variant_id Chr Start End Ref Alt VarType Quality GenoType GTQuality Depth Read1 Read2 VarFreq Region DBsnp Gene Inheritance ExonicEffect Transcripts Exon DnaChange ProChange PopAllFreq PopEasFreq Esp6500Freq ExacAllFreq ExacEasFreq SiftScore SiftClass MutationTasteProb MutationTasteClass MetasvmScore MetasvmClass PolyPhen2hdivScore PolyPhen2hdivClass PolyPhen2hvarScore PolyPhen2hvarClass Clinvar Cosmic Hgmd HgmdTag Acmg 1_69511_A->G 1 69511 69511 A G snp 2040.77 1/1 99 83 0 83 1.0 exonic rs2691305 OR4F5 AU nonsynonymous SNV NM_001005484 exon1 c.A421G p.T141A 0.759766 0.9394 0.9994 0.95 T 0.000 P -0.997 T 0.0 T 0.0 T Pathogenic 1_752894_T->C 1 752894 752894 T C snp 85.28 1/1 9 120 61 59 0.49 ncRNA_exonic rs3131971 FAM87B AU 0.753195 0.8839 Uncertain 1_762273_G->A 1 762273 762273 G A snp 3807.77 1/1 99 134 0 134 1.0 ncRNA_exonic rs3115849 LINC00115 AU 0.731829 0.8879 0.8060 0.9174 Uncertain 1_762320_C->T 1 762320 762320 C T snp 858.77 0/1 99 91 47 44 0.48 ncRNA_exonic rs75333668 LINC00115 AU 0.0694888 0.128 0.0215 0.1029 Uncertain 1_762589_G->C 1 762589 762589 G C snp 149.03 1/1 12 8 1 7 0.88 ncRNA_exonic rs3115848 LINC00115 AU 0.751597 0.8879 0.7773 0.8989 Uncertain 1_762592_C->G 1 762592 762592 C G snp 146.03 1/1 12 7 1 6 0.86 ncRNA_exonic rs3131950 LINC00115 AU 0.751597 0.8879 0.7761 0.8978 Uncertain 1_762601_T->C 1 762601 762601 T C snp 141.03 1/1 12 7 1 6 0.86 ncRNA_exonic rs3131949 LINC00115 AU 0.751597 0.8879 0.7756 0.8955 Uncertain 1_762632_T->A 1 762632 762632 T A snp 101.28 1/1 9 4 0 4 1.0 ncRNA_exonic rs3131948 LINC00115 AU 0.751997 0.8879 Uncertain 1_782981_C->T 1 782981 782981 C T snp 145.77 0/1 99 19 11 8 0.42 ncRNA_intronic rs6594026 LINC01128 AU 0.297923 0.2331 Uncertain 1_792263_A->G 1 792263 792263 A G snp 583.77 0/1 99 52 28 24 0.46 ncRNA_exonic rs1044922 LINC01128 AU 0.785942 0.8373 Uncertain 1_792480_C->T 1 792480 792480 C T snp 3197.84 1/1 99 111 0 111 1.0 ncRNA_exonic rs2905036 LINC01128 AU 0.976837 1 Uncertain 1_865694_C->T 1 865694 865694 C T snp 702.77 0/1 99 77 46 31 0.4 exonic rs9988179 SAMD11 AU nonsynonymous SNV NM_152486 exon3 c.C232T p.H78Y 0.052516 0.1389 0.007318 0.0381 0.1605 0 D 0.409 P -1.084 T 0.989 D 0.637 D Pathogenic 1_866319_G->A 1 866319 866319 G A snp 1981.77 1/1 99 69 0 69 1.0 intronic rs9988021 SAMD11 AU NM_152486 exon4 c.5097-99G>A 0.953474 0.998 Uncertain 1_871215_C->G 1 871215 871215 C G snp 4033.77 1/1 99 150 1 149 0.99 exonic rs28419423 SAMD11 AU synonymous SNV NM_152486 exon5 c.C369G p.P123P 0.0535144 0.1438 0.010380 0.0269 0.1138 0 D 1.000 P -1.073 T Likely benign 1_876445_A->G 1 876445 876445 A G snp 274.77 0/1 99 18 6 12 0.67 intronic rs533003420 SAMD11 AU NM_152486 exon8 c.15202-78A>G 0.000399361 0.002 Uncertain 1_876499_A->G 1 876499 876499 A G snp 351.77 0/1 99 35 20 15 0.43 intronic rs4372192 SAMD11 AU NM_152486 exon8 c.15202-24A>G 0.913139 0.9206 0.919290 0.9276 0.9115 Uncertain 1_877715_C->G 1 877715 877715 C G snp 203.77 0/1 63 12 3 9 0.75 intronic rs6605066 SAMD11 AU NM_152486 exon10 c.16468-74C>G 0.887979 0.9256 Uncertain 1_877782_C->G 1 877782 877782 C G snp 140.77 0/1 99 12 6 6 0.5 intronic rs79037098 SAMD11 AU NM_152486 exon10 c.16468-7C>G 0.0549121 0.1399 0.0469 0.1316 Uncertain 1_877831_T->C 1 877831 877831 T C snp 203.84 1/1 18 9 0 9 1.0 exonic rs6672356 SAMD11 AU nonsynonymous SNV NM_152486 exon10 c.T1027C p.W343R 1 1 0.9999 1 1 T 0.000 P -0.980 T 0.0 T 0.0 T Pathogenic 1_879676_G->A 1 879676 879676 G A snp 275.77 0/1 99 14 5 9 0.64 UTR3 rs6605067 NOC2L AU 0.885982 0.9137 Uncertain 1_879687_T->C 1 879687 879687 T C snp 266.77 0/1 90 13 4 9 0.69 UTR3 rs2839 NOC2L AU 0.921126 0.9137 Uncertain 1_880238_A->G 1 880238 880238 A G snp 1684.77 0/1 99 132 59 73 0.55 intronic rs3748592 NOC2L AU NM_015658 exon1 c.107+58A>G 0.920927 0.9137 Uncertain 1_880880_G->C 1 880880 880880 G C snp 102.77 0/1 99 13 9 4 0.31 intronic NOC2L AU NM_015658 exon3 c.824-17G>C Uncertain 1_883625_A->G 1 883625 883625 A G snp 2237.77 1/1 99 89 0 89 1.0 intronic rs4970378 NOC2L AU NM_015658 exon6 c.3539+13A>G 1 1 0.999846 0.9999 1 Uncertain 1_884101_A->C 1 884101 884101 A C snp 820.77 0/1 99 91 55 36 0.4 intronic rs4970455 NOC2L AU NM_015658 exon7 c.3910+118A>C Uncertain 1_887560_A->C 1 887560 887560 A C snp 2681.77 0/1 99 249 134 115 0.46 intronic rs3748595 NOC2L AU NM_015658 exon9 c.7446+41A>C 0.89976 0.9206 0.898278 0.9241 0.9121 Uncertain 1_887801_A->G 1 887801 887801 A G snp 1164.77 0/1 99 73 32 41 0.56 exonic rs3828047 NOC2L AU synonymous SNV NM_015658 exon10 c.T1182C p.T394T 0.922324 0.9206 0.927418 0.9355 0.9127 Uncertain 1_888639_T->C 1 888639 888639 T C snp 1822.77 0/1 99 195 114 81 0.42 exonic rs3748596 NOC2L AU synonymous SNV NM_015658 exon9 c.A918G p.E306E 0.922724 0.9206 0.927264 0.9356 0.9124 Uncertain 1_888659_T->C 1 888659 888659 T C snp 1904.77 0/1 99 204 115 89 0.44 exonic rs3748597 NOC2L AU nonsynonymous SNV NM_015658 exon9 c.A898G p.I300V 0.922724 0.9206 0.927330 0.9355 0.9126 1 T 0.0 P -0.957 T 0.0 T 0.0 T Pathogenic 1_889131_A->G 1 889131 889131 A G snp 102.77 0/1 99 13 9 4 0.31 intronic rs3828048 NOC2L AU NM_015658 exon12 c.9088-30A>G 0.0569089 0.1438 0.011406 0.0297 0.1226 Uncertain 1_889158_G->C 1 889158 889158 G C snp 203.77 0/1 99 23 15 8 0.35 splicing rs13303056 NOC2L AU NM_015658 exon12 c.9088-3G>C 0.904353 0.9365 0.896231 0.9279 0.9204 Pathogenic 1_889159_A->C 1 889159 889159 A C snp 212.77 0/1 99 24 15 9 0.38 splicing rs13302945 NOC2L AU NM_015658 exon12 c.9088-2A>C 0.904353 0.9365 0.895385 0.9279 0.9202 Pathogenic 1_889238_G->A 1 889238 889238 G A snp 1954.77 0/1 99 148 71 77 0.52 exonic rs3828049 NOC2L AU nonsynonymous SNV NM_015658 exon8 c.C812T p.A271V 0.0565096 0.0774 0.047216 0.0578 0.0869 0.07 T 1.000 N -1.165 T 0.999 D 0.923 D Pathogenic 1_889638_G->C 1 889638 889638 G C snp 450.77 0/1 99 24 9 15 0.63 intronic rs13303206 NOC2L AU NM_015658 exon13 c.9389+176G>C 0.901558 0.9216 Uncertain 1_892745_G->A 1 892745 892745 G A snp 919.77 0/1 99 86 42 44 0.51 intronic rs13303227 NOC2L AU NM_015658 exon17 c.12580+92G>A 0.920727 0.9206 Uncertain 1_897325_G->C 1 897325 897325 G C snp 2488.77 0/1 99 246 140 106 0.43 exonic rs4970441 KLHL17 AU synonymous SNV NM_198317 exon4 c.G609C p.A203A 0.859225 0.9157 0.858890 0.9077 0.9079 Uncertain 1_897564_T->C 1 897564 897564 T C snp 2586.77 0/1 99 232 130 102 0.44 intronic rs13303229 KLHL17 AU NM_198317 exon4 c.1354+137T>C 0.89996 0.9196 0.9155 0.9411 Uncertain 1_897738_C->T 1 897738 897738 C T snp 2590.77 0/1 99 246 134 112 0.46 exonic rs6696971 KLHL17 AU synonymous SNV NM_198317 exon5 c.C715T p.L239L 0.102037 0.0774 0.107863 0.0812 0.0817 Uncertain 1_897879_C->T 1 897879 897879 C T snp 1090.77 0/1 99 93 49 44 0.47 intronic rs79008338 KLHL17 AU NM_198317 exon5 c.1778+28C>T 0.0577077 0.1091 0.013732 0.0301 0.0998 Uncertain 1_898323_T->C 1 898323 898323 T C snp 1002.77 0/1 99 98 57 41 0.42 intronic rs6605071 KLHL17 AU NM_198317 exon6 c.2224+26T>C 0.926917 0.9206 0.935941 0.9415 0.9184 Uncertain 1_898467_C->T 1 898467 898467 C T snp 1301.77 0/1 99 134 75 59 0.44 intronic rs41285808 KLHL17 AU NM_198317 exon7 c.2415-21C>T 0.0503195 0.0784 0.041055 0.0736 0.1204 Uncertain 1_898542_A->G 1 898542 898542 A G snp 2090.77 0/1 99 169 92 77 0.46 exonic rs186429850 KLHL17 AU nonsynonymous SNV NM_198317 exon7 c.A1096G p.T366A 0.000399361 0.002 0.000154 0.0013 0.0082 0.19 T 1 D -0.750 T 0.001 T 0.003 T Pathogenic 1_899000_C->T 1 899000 899000 C T snp 378.77 0/1 99 23 9 14 0.61 intronic rs3813184 KLHL17 AU NM_198317 exon8 c.2811+116C>T 0.0852636 0.1399 Uncertain 1_899928_G->C 1 899928 899928 G C snp 556.77 0/1 99 47 24 23 0.49 intronic rs6677386 KLHL17 AU NM_198317 exon11 c.3837+18G>C 0.828874 0.9196 0.873607 0.8819 0.9053 Uncertain 1_899937_G->T 1 899937 899937 G T snp 368.77 0/1 99 40 24 16 0.4 intronic rs143296006 KLHL17 AU NM_198317 exon11 c.3837+27G>T 0.832069 0.9216 0.866453 0.8821 0.9029 Uncertain 1_899938_G->C 1 899938 899938 G C snp 390.77 0/1 99 39 22 17 0.44 intronic rs147467971 KLHL17 AU NM_198317 exon11 c.3837+28G>C 0.832069 0.9216 0.8816 0.9111 Uncertain 1_899942_G->A 1 899942 899942 G A snp 373.77 0/1 99 36 19 17 0.47 intronic rs71509448 KLHL17 AU NM_198317 exon11 c.3837+32G>A 0.802516 0.9216 0.873848 0.8852 0.9174 Uncertain 1_899989_A->C 1 899989 899989 A C snp 259.77 0/1 99 15 5 10 0.67 intronic rs6669071 KLHL17 AU NM_198317 exon11 c.3837+79A>C 0.838458 0.9206 Uncertain 1_900001_G->A 1 900001 900001 G A snp 227.77 0/1 99 13 4 9 0.69 intronic rs28754834 KLHL17 AU NM_198317 exon11 c.3837+91G>A 0.808906 0.9127 Uncertain 1_900009_C->G 1 900009 900009 C G snp 180.9 1/1 15 6 0 6 1.0 intronic rs6704181 KLHL17 AU NM_198317 exon11 c.3837+99C>G 0.808906 0.9127 Uncertain 1_900285_C->T 1 900285 900285 C T snp 639.77 0/1 99 64 37 27 0.42 intronic rs4970435 KLHL17 AU NM_198317 exon12 c.4269-57C>T 0.797923 0.9196 Uncertain 1_900286_A->G 1 900286 900286 A G snp 673.77 0/1 99 66 40 26 0.39 intronic rs4970434 KLHL17 AU NM_198317 exon12 c.4269-56A>G 0.929513 0.9196 Uncertain 1_900319_G->A 1 900319 900319 G A snp 1175.77 0/1 99 137 82 55 0.4 intronic rs80351873 KLHL17 AU NM_198317 exon12 c.4269-23G>A 0.0561102 0.1409 0.011060 0.0463 0.2207 Uncertain 1_901806_G->C 1 901806 901806 G C snp 881.77 0/1 99 55 19 36 0.65 upstream;downstream rs2879815 PLEKHN1;KLHL17 UN 0.283546 0.2083 Uncertain 1_902128_C->T 1 902128 902128 C T snp 965.77 0/1 99 80 39 41 0.51 exonic rs28499371 PLEKHN1 AU nonsynonymous SNV NM_001160184 exon2 c.C128T p.A43V 0.0561102 0.1409 0.009658 0.0618 0.2491 0.03 T 0.0 P -1.080 T 0.208 T 0.067 T Pathogenic 1_902288_G->A 1 902288 902288 G A snp 37.77 0/1 66 7 5 2 0.29 intronic rs77359280 PLEKHN1 AU NM_001160184 exon2 c.272+105G>A 0.0447284 0.0804 Uncertain 1_906272_A->C 1 906272 906272 A C snp 3122.77 1/1 99 111 0 111 1.0 exonic rs28507236 PLEKHN1 AU synonymous SNV NM_001160184 exon6 c.A498C p.A166A 0.180112 0.3304 0.098788 0.1266 0.3149 Uncertain 1_907609_T->C 1 907609 907609 T C snp 2759.77 0/1 99 214 96 118 0.55 intronic rs79890672 PLEKHN1 AU NM_001160184 exon10 c.5756-58T>C 0.0696885 0.1528 Uncertain 1_907622_G->C 1 907622 907622 G C snp 2551.77 0/1 99 208 94 114 0.55 intronic rs59928984 PLEKHN1 AU NM_001160184 exon10 c.5756-45G>C 0.115016 0.1528 0.075816 0.0544 0.1371 Uncertain 1_908170_C->G 1 908170 908170 C G snp 99.28 1/1 9 3 0 3 1.0 intronic rs28542142 PLEKHN1 AU NM_001160184 exon11 c.6329-70C>G 0.20627 0.1528 Uncertain 1_908414_C->T 1 908414 908414 C T snp 895.77 0/1 99 76 36 40 0.53 intronic rs28504611 PLEKHN1 AU NM_001160184 exon11 c.6479+24C>T 0.18111 0.1538 0.131237 0.0857 0.1457 Uncertain 1_909238_G->C 1 909238 909238 G C snp 152.77 0/1 99 16 7 9 0.56 exonic rs3829740 PLEKHN1 AU nonsynonymous SNV NM_001160184 exon13 c.G1355C p.R452P 0.776558 0.8869 0.650131 0.6685 0.8778 0.28 T 0.0 P -1.043 T 0.0 T 0.0 T Pathogenic 1_909242_A->G 1 909242 909242 A G snp 209.77 0/1 99 17 8 9 0.53 exonic rs3829739 PLEKHN1 AU synonymous SNV NM_001160184 exon13 c.A1359G p.G453G 0.131789 0.1637 0.083731 0.0593 0.1525 Uncertain 1_909309_T->C 1 909309 909309 T C snp 341.77 0/1 99 28 11 17 0.61 exonic rs3829738 PLEKHN1 AU nonsynonymous SNV NM_001160184 exon13 c.T1426C p.S476P 0.254193 0.2758 0.194885 0.2271 0.2589 0.3 T 0.0 P -1.044 T 0.001 T 0.001 T Pathogenic 1_909419_C->T 1 909419 909419 C T snp 222.77 0/1 99 23 11 12 0.52 exonic rs28548431 PLEKHN1 AU synonymous SNV NM_001160184 exon13 c.C1536T p.D512D 0.111222 0.0962 0.143379 0.2293 0.1805 Uncertain 1_909537_C->T 1 909537 909537 C T snp 68.77 0/1 97 8 5 3 0.38 intronic rs536083829 PLEKHN1 AU NM_001160184 exon13 c.7520+106C>T 0.000798722 0.004 Uncertain 1_909555_A->G 1 909555 909555 A G snp 672.77 1/1 51 17 0 17 1.0 intronic rs2340594 PLEKHN1 AU NM_001160184 exon13 c.7520+124A>G 0.896965 0.9623 Uncertain 1_909768_A->G 1 909768 909768 A G snp 4728.77 1/1 99 184 0 184 1.0 intronic rs2340593 PLEKHN1 AU NM_001160184 exon14 c.7833+24A>G 0.999601 1 0.999846 0.9999 1 Uncertain 1_911595_A->G 1 911595 911595 A G snp 2166.77 1/1 99 76 0 76 1.0 exonic rs7417106 PERM1 AU nonsynonymous SNV NM_001291366 exon4 c.T2330C p.V777A 0.710264 0.9246 0.7712 0.915 0 D 0.0 P -1.052 T 0.518 P 0.103 P Pathogenic 1_912049_T->C 1 912049 912049 T C snp 949.77 0/1 99 89 47 42 0.47 intronic rs7367995 PERM1 AU NM_001291367 exon2 c.453+45T>C 0.51857 0.7123 0.5830 0.6991 Uncertain 1_912103_G->A 1 912103 912103 G A snp 509.77 1/1 39 13 0 13 1.0 intronic rs7366480 PERM1 AU NM_001291367 exon2 c.453+99G>A Uncertain 1_912126_G->A 1 912126 912126 G A snp 98.77 0/1 95 7 3 4 0.57 intronic rs75056944 PERM1 AU NM_001291367 exon2 c.453+122G>A Uncertain 1_912149_A->G 1 912149 912149 A G snp 41.77 0/1 66 4 2 2 0.5 intronic PERM1 AU NM_001291367 exon2 c.453+145A>G Uncertain 1_914192_G->C 1 914192 914192 G C snp 252.8 1/1 21 7 0 7 1.0 intronic rs2340595 PERM1 AU NM_001291367 exon3 c.2709-68G>C 0.935503 0.999 Uncertain 1_914333_C->G 1 914333 914333 C G snp 620.77 0/1 99 65 37 28 0.43 exonic rs13302979 PERM1 AU nonsynonymous SNV NM_001291366 exon2 c.G2077C p.E693Q 0.55631 0.8056 0.6617 0.8014 0.46 T 0.0 P -0.964 T 0.0 T 0.0 T Pathogenic 1_914852_G->C 1 914852 914852 G C snp 1303.77 0/1 99 110 58 52 0.47 exonic rs13303368 PERM1 AU nonsynonymous SNV NM_001291366 exon2 c.C1558G p.Q520E 0.51258 0.7123 0.5950 0.7054 1 T 0.0 P -0.955 T 0.0 T 0.0 T Pathogenic 1_914876_T->C 1 914876 914876 T C snp 4312.77 1/1 99 152 0 152 1.0 exonic rs13302983 PERM1 AU nonsynonymous SNV NM_001291366 exon2 c.A1534G p.S512G 0.966853 0.999 0.9664 0.9978 0.43 T 0.0 P -1.000 T 0.001 T 0.004 T Pathogenic 1_914940_T->C 1 914940 914940 T C snp 2854.77 0/1 99 248 122 126 0.51 exonic rs13303033 PERM1 AU synonymous SNV NM_001291366 exon2 c.A1470G p.A490A 0.509585 0.7123 0.5874 0.7 Uncertain 1_914958_G->A 1 914958 914958 G A snp 2360.77 0/1 99 250 135 115 0.46 exonic rs141876463 PERM1 AU synonymous SNV NM_001291366 exon2 c.C1452T p.P484P 0.00159744 0.006 0.0013 0.0023 Uncertain 1_915227_A->G 1 915227 915227 A G snp 4567.77 1/1 99 166 0 166 1.0 exonic rs13303355 PERM1 AU synonymous SNV NM_001291366 exon2 c.T1183C p.L395L 0.918131 0.999 0.9562 1 Uncertain 1_916549_A->G 1 916549 916549 A G snp 2120.77 0/1 99 219 127 92 0.42 exonic rs6660139 PERM1 AU nonsynonymous SNV NM_001291367 exon2 c.T58C p.W20R 0.758586 0.88 0.7836 0.8714 0.37 T 0.0 P -1.009 T Pathogenic 1_917640_G->A 1 917640 917640 G A snp 376.77 0/1 99 35 17 18 0.51 upstream rs41285816 PERM1 AU 0.151358 0.119 Uncertain 1_935222_C->A 1 935222 935222 C A snp 684.77 0/1 99 50 19 31 0.62 exonic rs2298214 HES4 AU nonsynonymous SNV NM_001142467 exon1 c.G132T p.R44S 0.49381 0.7718 0.436702 0.6611 0.8113 1 T 0.000 P -0.935 T 0.011 T 0.001 T Pathogenic 1_948846_-->A 1 948846 948846 - A indel 1871.73 1/1 99 45 0 45 1.0 upstream rs3841266 ISG15 AR 0.854433 0.9464 Uncertain 1_948870_C->G 1 948870 948870 C G snp 1571.77 1/1 99 61 0 61 1.0 UTR5 rs4615788 ISG15 AR 0.902955 0.999 0.889845 Uncertain 1_948921_T->C 1 948921 948921 T C snp 2388.77 1/1 99 94 0 94 1.0 UTR5 rs15842 ISG15 AR 0.903155 0.999 0.885787 0.9416 0.9998 Uncertain 1_949235_G->A 1 949235 949235 G A snp 514.77 1/1 39 14 0 14 1.0 intronic rs2465124 ISG15 AR NM_005101 exon2 c.410-128G>A 0.89976 0.999 Uncertain 1_949608_G->A 1 949608 949608 G A snp 2684.77 0/1 99 250 137 113 0.45 exonic rs1921 ISG15 AR nonsynonymous SNV NM_005101 exon2 c.G248A p.S83N 0.338858 0.1845 0.401584 0.3702 0.2051 0 D 0.000 P -0.903 T 0.01 T 0.005 T Pathogenic 1_949654_A->G 1 949654 949654 A G snp 6701.77 1/1 99 231 1 230 1.0 exonic rs8997 ISG15 AR synonymous SNV NM_005101 exon2 c.A294G p.V98V 0.825679 0.9266 0.820363 0.9122 0.9254 Uncertain 1_949925_C->T 1 949925 949925 C T snp 1281.77 1/1 93 41 0 41 1.0 downstream rs2799070 ISG15 AR 0.872804 0.9762 Uncertain 1_955597_G->T 1 955597 955597 G T snp 207.77 0/1 99 20 8 12 0.6 exonic rs115173026 AGRN AR synonymous SNV NM_198576 exon1 c.G45T p.P15P 0.282548 0.1667 0.4242 0.2237 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000116272.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 1_957898_G->T 1 957898 957898 G T snp 535.77 0/1 99 34 14 20 0.59 intronic rs2799064 AGRN AR NM_198576 exon2 c.2290+56G>T 0.328474 0.1806 Uncertain 1_970550_GG->- 1 970550 970551 GG - indel 512.73 1/1 47 19 1 18 0.95 intronic rs70949545 AGRN AR NM_198576 exon3 c.15104-106_15104-105delGG Uncertain 1_976514_C->A 1 976514 976514 C A snp 350.78 1/1 27 12 0 12 1.0 intronic rs79290478 AGRN AR NM_198576 exon5 c.21000-38C>A 1 1 Uncertain 1_977330_T->C 1 977330 977330 T C snp 1083.77 1/1 78 39 0 39 1.0 splicing rs2799066 AGRN AR NM_198576 exon7 c.21783-5T>C 0.885184 0.999 0.852593 0.9166 0.9998 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000116254.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 1_977570_G->A 1 977570 977570 G A snp 1735.77 1/1 99 56 0 56 1.0 intronic rs2710876 AGRN AR NM_198576 exon7 c.21990+28G>A 0.794129 0.9722 0.774115 0.8946 0.9691 Uncertain 1_978604_CT->- 1 978604 978605 CT - indel 1869.73 0/1 99 98 57 41 0.42 intronic rs35881187 AGRN AR NM_198576 exon8 c.23066-14_23066-13delCT 0.479233 0.8036 0.399263 0.5609 0.7856 Uncertain 1_980460_G->A 1 980460 980460 G A snp 214.84 1/1 18 6 0 6 1.0 intronic rs3128097 AGRN AR NM_198576 exon13 c.24988-80G>A 0.911941 0.999 Uncertain 1_981087_A->G 1 981087 981087 A G snp 7389.77 1/1 99 250 0 250 1.0 intronic rs3128098 AGRN AR NM_198576 exon15 c.25560-25A>G 0.869409 0.999 0.832078 0.9128 0.9999 Uncertain 1_981931_A->G 1 981931 981931 A G snp 3316.77 1/1 99 110 0 110 1.0 exonic rs2465128 AGRN AR synonymous SNV NM_198576 exon18 c.A3066G p.S1022S 0.797724 0.9633 0.780216 0.8767 0.9649 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000116259.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 1_982941_T->C 1 982941 982941 T C snp 7460.77 1/1 99 250 0 250 1.0 intronic rs3128102 AGRN AR NM_198576 exon21 c.27400-11T>C 0.79992 0.9722 0.766574 0.8859 0.9689 Uncertain 1_982994_T->C 1 982994 982994 T C snp 7549.77 1/1 99 250 0 250 1.0 exonic rs10267 AGRN AR synonymous SNV NM_198576 exon21 c.T3558C p.F1186F 0.835863 0.999 0.791173 0.8989 0.9995 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000116264.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 1_984302_T->C 1 984302 984302 T C snp 281.77 0/1 99 29 13 16 0.55 exonic rs9442391 AGRN AR synonymous SNV NM_198576 exon24 c.T4161C p.T1387T 0.545727 0.8294 0.458626 0.6295 0.8435 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000116269.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 1_985266_C->T 1 985266 985266 C T snp 1611.77 0/1 99 185 112 73 0.39 intronic rs2275813 AGRN AR NM_198576 exon27 c.29730-16C>T 0.495208 0.8155 0.402223 0.5436 0.8084 Uncertain 1_985444_G->- 1 985444 985444 G - indel 124.52 0/1 7 13 2 11 0.85 intronic rs71576592 AGRN AR NM_198576 exon27 c.29865+27delG 0.026322 0.3903 0.6513 Uncertain 1_985449_G->A 1 985449 985449 G A snp 60.77 0/1 89 10 6 4 0.4 intronic rs2799067 AGRN AR NM_198576 exon27 c.29865+32G>A 0.525559 0.5407 0.5301 0.25 Uncertain 1_985450_G->A 1 985450 985450 G A snp 192.77 0/1 99 10 4 6 0.6 intronic rs397834473 AGRN AR NM_198576 exon27 c.29865+33G>A 0.446486 0.4544 0.4975 0.7163 Uncertain 1_986443_C->T 1 986443 986443 C T snp 4270.77 1/1 99 152 0 152 1.0 intronic rs2710887 AGRN AR NM_001305275 exon31 c.31069-178C>T 0.788538 0.9931 0.8757 0.9981 Uncertain 1_987200_C->T 1 987200 987200 C T snp 3396.77 1/1 99 110 0 110 1.0 splicing rs9803031 AGRN AR NM_198576 exon33 c.31643+5C>T 0.788738 0.9931 0.756923 0.8757 0.9968 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000116279.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 1_988932_G->C 1 988932 988932 G C snp 1111.77 1/1 81 38 0 38 1.0 intronic rs2710871 AGRN AR NM_001305275 exon35 c.33321+59G>C 0.775359 0.9931 Uncertain 1_990280_C->T 1 990280 990280 C T snp 343.77 0/1 99 29 11 18 0.62 exonic rs4275402 AGRN AR synonymous SNV NM_198576 exon36 c.C6057T p.D2019D 0.585264 0.8214 0.579155 0.6376 0.8173 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000116281.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 1_990380_C->T 1 990380 990380 C T snp 131.77 0/1 99 20 15 5 0.25 UTR3 rs3121561 AGRN AR 0.34345 0.1726 0.341760 0.3334 0.2212 Uncertain 1_990417_T->C 1 990417 990417 T C snp 31.77 0/1 60 14 11 3 0.21 UTR3 rs2465136 AGRN AR 0.383986 0.1786 Uncertain 1_990517_C->T 1 990517 990517 C T snp 50.74 1/1 6 2 0 2 1.0 UTR3 rs2710872 AGRN AR 0.917931 0.999 Uncertain 1_1007203_A->G 1 1007203 1007203 A G snp 1108.77 1/1 81 34 0 34 1.0 exonic rs4633229 RNF223 AU synonymous SNV NM_001205252 exon2 c.T744C p.D248D 0.841254 0.9196 0.8154 0.8871 Uncertain 1_1007222_G->T 1 1007222 1007222 G T snp 867.77 0/1 99 51 17 34 0.67 exonic rs71628928 RNF223 AU nonsynonymous SNV NM_001205252 exon2 c.C725A p.P242H 0.117412 0.1091 0.2279 0.0547 0.01 T 0.0 P -0.913 T Pathogenic 1_1007432_G->A 1 1007432 1007432 G A snp 1952.77 0/1 99 151 63 88 0.58 exonic rs4333796 RNF223 AU nonsynonymous SNV NM_001205252 exon2 c.C515T p.A172V 0.532149 0.7917 0.5721 0.7969 0.45 T 0.0 P -0.966 T Pathogenic 1_1018144_T->C 1 1018144 1018144 T C snp 703.77 0/1 99 54 28 26 0.48 UTR3 rs9442395 C1orf159 AU 0.53774 0.7907 Uncertain 1_1019175_C->G 1 1019175 1019175 C G snp 972.77 1/1 72 33 0 33 1.0 intronic rs2298215 C1orf159 AU NM_017891 exon2 c.1460-557C>G 0.702875 0.8988 Uncertain 1_1019180_T->C 1 1019180 1019180 T C snp 294.77 0/1 99 34 19 15 0.44 intronic rs9442396 C1orf159 AU NM_017891 exon2 c.1460-552T>C 0.600639 0.7937 Uncertain 1_1020406_T->C 1 1020406 1020406 T C snp 179.9 1/1 15 6 0 6 1.0 intronic rs9442397 C1orf159 AU NM_017891 exon3 c.1614+520T>C 0.713458 0.8929 Uncertain 1_1021346_A->G 1 1021346 1021346 A G snp 1532.77 0/1 99 157 85 72 0.46 exonic rs10907177 C1orf159 AU synonymous SNV NM_017891 exon7 c.T357C p.I119I 0.178914 0.122 0.187144 0.1701 0.0964 Uncertain 1_1021415_A->G 1 1021415 1021415 A G snp 2038.77 1/1 99 66 0 66 1.0 intronic rs3737728 C1orf159 AU NM_017891 exon4 c.3120+23A>G 0.8127 0.9177 0.739997 0.7559 0.8943 Uncertain 1_1023145_G->A 1 1023145 1023145 G A snp 235.77 0/1 99 13 4 9 0.69 intronic rs3737727 C1orf159 AU NM_017891 exon6 c.4705+168G>A 0.166933 0.1181 Uncertain 1_1026572_C->G 1 1026572 1026572 C G snp 35.77 0/1 64 6 4 2 0.33 intronic rs148342202 C1orf159 AU NM_017891 exon8 c.8579-279C>G 0.00139776 0.006 0.0023 0.0288 Uncertain 1_1026707_C->A 1 1026707 1026707 C A snp 1904.77 1/1 99 67 0 67 1.0 intronic rs4074137 C1orf159 AU NM_017891 exon8 c.8579-144C>A 0.626997 0.9236 0.6665 0.9214 Uncertain 1_1026801_T->A 1 1026801 1026801 T A snp 3588.77 1/1 99 143 0 143 1.0 intronic rs4562563 C1orf159 AU NM_017891 exon8 c.8579-50T>A 0.626597 0.8879 0.555507 0.6723 0.9056 Uncertain 1_1102657_C->T 1 1102657 1102657 C T snp 411.77 0/1 99 38 24 14 0.37 upstream;downstream rs140316058 MIR200A;MIR200B UN 0.0323482 0.0109 Uncertain 1_1103471_C->T 1 1103471 1103471 C T snp 524.77 1/1 42 20 0 20 1.0 upstream;downstream rs12732261 MIR429;MIR200A UN Uncertain 1_1104584_T->C 1 1104584 1104584 T C snp 277.77 0/1 99 21 9 12 0.57 downstream rs112695918 MIR429 AU 0.0738818 0.0208 Uncertain 1_1111589_C->T 1 1111589 1111589 C T snp 56.74 1/1 6 2 0 2 1.0 intronic rs532013850 TTLL10 AU 0.0877 0.1378 Uncertain 1_1115994_G->A 1 1115994 1115994 G A snp 4308.77 1/1 99 142 1 141 0.99 intronic rs13376597 TTLL10 AU NM_153254 exon3 c.548+13G>A 0.270367 0.1538 0.221928 0.2814 0.1848 Uncertain 1_1116311_A->G 1 1116311 1116311 A G snp 56.74 1/1 6 3 0 3 1.0 intronic rs12096125 TTLL10 AU NM_153254 exon4 c.807+71A>G 0.740415 0.9236 Uncertain 1_1117398_A->G 1 1117398 1117398 A G snp 1933.77 1/1 99 61 0 61 1.0 intronic rs12097586 TTLL10 AU NM_153254 exon5 c.1762+203A>G 0.741214 0.9177 Uncertain 1_1119657_G->C 1 1119657 1119657 G C snp 274.78 1/1 24 9 0 9 1.0 intronic rs4560982 TTLL10 AU NM_153254 exon8 c.4038+186G>C 0.741014 0.9286 Uncertain 1_1120307_G->A 1 1120307 1120307 G A snp 1787.77 0/1 99 170 94 76 0.45 intronic rs7539911 TTLL10 AU NM_153254 exon9 c.4915-41G>A 0.316294 0.5645 0.3392 0.7085 Uncertain 1_1133077_A->G 1 1133077 1133077 A G snp 536.77 1/1 39 21 0 21 1.0 exonic rs2274789 TTLL10 AU synonymous SNV NM_001130045 exon16 c.A1872G p.P624P 0.546526 0.88 0.3817 0.8258 Uncertain 1_1133273_T->C 1 1133273 1133273 T C snp 272.8 1/1 21 10 0 10 1.0 UTR3 rs12031928 TTLL10 AU 0.529153 0.88 0.3918 0.8 Uncertain 1_1139565_G->A 1 1139565 1139565 G A snp 4345.77 1/1 99 163 3 160 0.98 exonic rs61761323 TNFRSF18 AU synonymous SNV NM_004195 exon4 c.C450T p.N150N 0.0105831 0.0486 0.000232 0.0046 0.0470 Uncertain 1_1147243_A->C 1 1147243 1147243 A C snp 1138.77 1/1 84 39 0 39 1.0 intronic rs2298211 TNFRSF4 AR NM_003327 exon2 c.278+31A>C 0.0872604 0.1329 0.054470 0.1291 0.2143 Uncertain 1_1147297_G->A 1 1147297 1147297 G A snp 1501.77 1/1 99 52 0 52 1.0 intronic rs2298212 TNFRSF4 AR NM_003327 exon3 c.387-24G>A 0.0850639 0.1329 0.061648 0.1338 0.2126 ID=CS060109;DIS=Myocardial infarction, protection against, association;TAG=DP;PUB=16329997 DP Uncertain 1_1153113_G->A 1 1153113 1153113 G A snp 5135.77 1/1 99 197 0 197 1.0 exonic rs12036216 SDF4 AU synonymous SNV NM_016547 exon7 c.C984T p.L328L 0.130591 0.252 0.105737 0.1143 0.2488 Uncertain 1_1158534_-->AC 1 1158534 1158534 - AC indel 467.73 1/1 33 11 0 11 1.0 intronic rs397959131 SDF4 AU NM_016547 exon4 c.5574-89insAC 0.124201 0.1587 0.1114 0.1991 Uncertain 1_1158563_AC->- 1 1158563 1158564 AC - indel 1172.73 1/1 75 25 0 25 1.0 intronic rs112936217 SDF4 AU NM_016547 exon4 c.5574-60_5574-59delAC 0.121206 0.1508 0.1114 0.1923 Uncertain 1_1158631_A->G 1 1158631 1158631 A G snp 2177.77 1/1 99 79 0 79 1.0 exonic rs6603781 SDF4 AU synonymous SNV NM_016176 exon4 c.T570C p.D190D 0.953275 1 0.919960 0.9166 0.9998 1.000 P Uncertain 1_1159485_C->T 1 1159485 1159485 C T snp 889.77 1/1 66 25 0 25 1.0 intronic rs75700266 SDF4 AU NM_016547 exon5 c.6299+137C>T 0.122804 0.1577 Uncertain 1_1159517_T->C 1 1159517 1159517 T C snp 50.74 1/1 6 3 0 3 1.0 intronic rs6702268 SDF4 AU NM_016547 exon5 c.6299+169T>C 0.974042 1 Uncertain 1_1163804_C->T 1 1163804 1163804 C T snp 3457.77 1/1 99 126 2 124 0.98 intronic rs7515488 SDF4 AU NM_016547 exon6 c.10798-43C>T 0.186901 0.1835 0.165458 0.1910 0.3115 Uncertain 1_1167796_C->T 1 1167796 1167796 C T snp 37.77 0/1 66 9 6 3 0.33 exonic rs190796582 B3GALT6 AR synonymous SNV NM_080605 exon1 c.C138T p.S46S 0.161542 0.1597 0 . Uncertain 1_1177919_T->- 1 1177919 1177919 T - indel 2903.73 0/1 99 161 81 80 0.5 UTR3 rs3835300 FAM132A AU 0.0746805 0.1567 0.054969 0.0979 0.2587 Uncertain 1_1178245_C->T 1 1178245 1178245 C T snp 1841.77 0/1 99 140 66 74 0.53 exonic rs11260566 FAM132A AU synonymous SNV NM_001014980 exon7 c.G780A p.T260T 0.178714 0.1637 0.137496 0.1248 0.1854 Uncertain 1_1178482_A->G 1 1178482 1178482 A G snp 1973.77 0/1 99 157 76 81 0.52 exonic rs78555129 FAM132A AU nonsynonymous SNV NM_001014980 exon6 c.T691C p.C231R 0.184904 0.1687 0.153133 0.1723 0.2462 1 T 0.820 P -0.950 T 0.0 T 0.0 T Pathogenic 1_1178925_G->A 1 1178925 1178925 G A snp 1145.77 0/1 99 137 86 51 0.37 exonic rs12093154 FAM132A AU nonsynonymous SNV NM_001014980 exon5 c.C539T p.A180V 0.131589 0.1687 0.096445 0.1283 0.2242 0.16 T 0.999 P -1.071 T 0.705 T 0.359 P Pathogenic 1_1179030_G->A 1 1179030 1179030 G A snp 146.77 0/1 99 14 8 6 0.43 intronic rs111673713 FAM132A AU NM_001014980 exon4 c.1005+98G>A 0.142572 0.1687 Uncertain 1_1179309_G->A 1 1179309 1179309 G A snp 557.77 0/1 99 67 33 34 0.51 intronic rs113164957 FAM132A AU NM_001014980 exon5 c.1406-24G>A 0.125799 0.1587 0.093840 0.1464 0.2397 Uncertain 1_1179983_G->A 1 1179983 1179983 G A snp 270.77 0/1 94 12 3 9 0.75 intronic rs76342560 FAM132A AU NM_001014980 exon7 c.1950+106G>A 0.16873 0.1687 Uncertain 1_1196863_T->C 1 1196863 1196863 T C snp 851.77 1/1 63 26 0 26 1.0 intronic rs6659787 UBE2J2 AU NM_058167 exon5 c.8143-1862T>C 1 1 Uncertain 1_1198618_T->A 1 1198618 1198618 T A snp 1067.77 0/1 99 87 43 44 0.51 intronic rs12563338 UBE2J2 AU NM_058167 exon5 c.8143-107T>A 0.325679 0.6637 Uncertain 1_1216195_C->A 1 1216195 1216195 C A snp 901.77 0/1 99 83 39 44 0.53 intronic rs55834051 SCNN1D AU NM_001130413 exon1 c.5+149C>A 0.318291 0.6429 Uncertain 1_1216552_G->T 1 1216552 1216552 G T snp 43.77 0/1 68 4 2 2 0.5 intronic rs200376001 SCNN1D AU NM_001130413 exon2 c.564-53G>T Uncertain 1_1220954_G->A 1 1220954 1220954 G A snp 1166.77 0/1 99 99 51 48 0.48 exonic rs12751100 SCNN1D AU synonymous SNV NM_001130413 exon6 c.G468A p.S156S 0.442692 0.6498 0.210746 0.3157 0.6456 0.13 T 0.000 P -0.979 T Likely benign 1_1221138_G->A 1 1221138 1221138 G A snp 1556.77 0/1 99 150 81 69 0.46 intronic rs11260578 SCNN1D AU NM_001130413 exon6 c.5003+94G>A 0.303714 0.63 Uncertain 1_1221717_C->T 1 1221717 1221717 C T snp 1504.77 0/1 99 119 60 59 0.5 intronic rs13306647 SCNN1D AU NM_001130413 exon7 c.5617+59C>T 0.304113 0.63 Uncertain 1_1222267_G->C 1 1222267 1222267 G C snp 1681.77 0/1 99 133 60 73 0.55 exonic rs11260579 SCNN1D AU nonsynonymous SNV NM_001130413 exon8 c.G1031C p.R344P 0.303315 0.63 0.088716 0.1535 0.5871 0.12 T 0.0 P -0.934 T 0.948 T 0.371 D Pathogenic 1_1222695_G->C 1 1222695 1222695 G C snp 458.77 0/1 99 40 23 17 0.42 intronic rs910556 SCNN1D AU NM_001130413 exon9 c.6638+16G>C 0.354832 0.6488 0.126898 0.2053 0.6253 Uncertain 1_1223413_GGCAGGTGAGGCTGGGCTGGCAGGGGGTGCGGG->- 1 1223413 1223445 GGCAGGTGAGGCTGGGCTGGCAGGGGGTGCGGG - indel 1410.73 0/1 99 48 8 40 0.83 exonic rs768185716 SCNN1D AU frameshift deletion NM_001130413 exon12 c.1658_1662del p.R553fs 0.0008 0.0075 Pathogenic 1_1225497_T->C 1 1225497 1225497 T C snp 77.77 0/1 99 7 4 3 0.43 intronic SCNN1D AU NM_001130413 exon13 c.9609-153T>C Uncertain 1_1225507_CC->- 1 1225507 1225508 CC - indel 301.77 1/1 21 7 0 7 1.0 intronic rs760148311 SCNN1D AU NM_001130413 exon13 c.9609-143_9609-142delCC Uncertain 1_1225544_-->CC 1 1225544 1225544 - CC indel 325.73 0/1 99 20 11 9 0.45 intronic rs772751725 SCNN1D AU NM_001130413 exon13 c.9609-106insCC Uncertain 1_1225553_C->T 1 1225553 1225553 C T snp 249.77 0/1 99 23 12 11 0.48 intronic rs5026410 SCNN1D AU NM_001130413 exon13 c.9609-97C>T 0.406949 0.4911 Uncertain 1_1225579_G->C 1 1225579 1225579 G C snp 1230.77 1/1 90 42 0 42 1.0 intronic rs1977348 SCNN1D AU NM_001130413 exon13 c.9609-71G>C 0.223243 0.619 Uncertain 1_1225641_C->A 1 1225641 1225641 C A snp 1016.77 0/1 99 86 47 39 0.45 intronic rs2748384 SCNN1D AU NM_001130413 exon13 c.9609-9C>A 0.490815 0.8274 0.292922 0.2766 0.8414 Uncertain 1_1225959_C->G 1 1225959 1225959 C G snp 4048.77 1/1 99 155 2 153 0.99 intronic rs1570867 SCNN1D AU NM_001130413 exon14 c.9894+24C>G 0.56869 0.877 0.299259 0.3432 0.8746 Uncertain 1_1226102_G->A 1 1226102 1226102 G A snp 1140.77 0/1 99 81 33 48 0.59 intronic rs2273274 SCNN1D AU NM_001130413 exon15 c.10033+28G>A 0.26238 0.5694 0.086583 0.1306 0.5311 Uncertain 1_1226129_G->T 1 1226129 1226129 G T snp 861.77 0/1 99 54 22 32 0.59 intronic SCNN1D AU NM_001130413 exon15 c.10033+55G>T Uncertain 1_1226221_A->G 1 1226221 1226221 A G snp 599.77 1/1 45 16 0 16 1.0 intronic rs2273275 SCNN1D AU NM_001130413 exon16 c.10233-53A>G 0.539337 0.8581 0.263877 Uncertain 1_1226348_C->G 1 1226348 1226348 C G snp 1101.77 0/1 99 78 33 45 0.58 intronic rs586965 SCNN1D AU NM_001130413 exon16 c.10292+15C>G 0.504193 0.7877 0.302403 0.3186 0.7966 Uncertain 1_1227182_G->A 1 1227182 1227182 G A snp 157.77 0/1 99 28 21 7 0.25 UTR3 rs13306642 SCNN1D AU 0.0139776 0.0655 Uncertain 1_1227244_G->A 1 1227244 1227244 G A snp 1051.77 0/1 99 88 48 40 0.45 UTR3 rs2239609 SCNN1D AU 0.129792 0.1925 Uncertain 1_1229114_C->A 1 1229114 1229114 C A snp 67.77 0/1 96 45 35 10 0.22 intronic rs2281459 ACAP3 AU NM_030649 exon1 c.145+26C>A 0.220847 0.5952 0.028997 0.1071 0.4306 Uncertain 1_1229680_G->T 1 1229680 1229680 G T snp 4967.77 1/1 99 171 0 171 1.0 intronic rs2477781 ACAP3 AU NM_030649 exon4 c.838-101G>T 0.98742 1 Uncertain 1_1233580_G->T 1 1233580 1233580 G T snp 279.77 0/1 99 23 13 10 0.43 intronic rs2297234 ACAP3 AU NM_030649 exon12 c.4550+87G>T 0.170128 0.5427 Uncertain 1_1233672_C->A 1 1233672 1233672 C A snp 1376.77 0/1 99 106 53 53 0.5 intronic rs2297233 ACAP3 AU NM_030649 exon13 c.4806-77C>A 0.222045 0.5992 Uncertain 1_1233941_T->C 1 1233941 1233941 T C snp 412.77 0/1 99 47 31 16 0.34 splicing rs1739855 ACAP3 AU NM_030649 exon14 c.5003-5T>C 0.496805 0.7659 0.290191 0.2527 0.7572 Pathogenic 1_1235710_T->A 1 1235710 1235710 T A snp 472.77 0/1 99 31 16 15 0.48 intronic rs640712 ACAP3 AU NM_030649 exon18 c.6639+128T>A 0.4998 0.7669 Uncertain 1_1237538_G->A 1 1237538 1237538 G A snp 230.77 0/1 99 18 9 9 0.5 intronic rs2296476 ACAP3 AU NM_030649 exon20 c.8483+112G>A 0.222843 0.6002 0.039138 Uncertain 1_1238492_G->A 1 1238492 1238492 G A snp 806.77 0/1 99 78 41 37 0.47 intronic rs12408158 ACAP3 AU NM_030649 exon22 c.9598-49G>A 0.161142 0.2123 0.096584 0.1712 0.2539 Uncertain 1_1238828_G->A 1 1238828 1238828 G A snp 56.74 1/1 6 2 0 2 1.0 intronic ACAP3 AU NM_030649 exon22 c.9718+167G>A Uncertain 1_1239339_T->G 1 1239339 1239339 T G snp 2798.77 1/1 99 83 0 83 1.0 intronic rs11260584 ACAP3 AU NM_030649 exon23 c.10522-126T>G 0.719249 0.8343 Uncertain 1_1242468_G->A 1 1242468 1242468 G A snp 939.77 0/1 99 62 26 36 0.58 intronic rs2274264 ACAP3 AU NM_030649 exon24 c.14205-680G>A 0.221845 0.5942 0.1376 0.5758 Uncertain 1_1242656_G->A 1 1242656 1242656 G A snp 2320.77 0/1 99 204 99 105 0.51 intronic rs2274263 ACAP3 AU NM_030649 exon24 c.14205-492G>A 0.221845 0.5942 Uncertain 1_1242707_A->G 1 1242707 1242707 A G snp 1898.77 0/1 99 186 97 89 0.48 intronic rs2274262 ACAP3 AU NM_030649 exon24 c.14205-441A>G 0.5 0.2401 0.7231 0.275 Uncertain 1_1242983_G->A 1 1242983 1242983 G A snp 44.74 1/1 6 2 0 2 1.0 intronic rs2887285 ACAP3 AU NM_030649 exon24 c.14205-165G>A 0.49381 0.2351 Uncertain 1_1246004_A->G 1 1246004 1246004 A G snp 2379.77 1/1 99 88 0 88 1.0 intronic rs2296474 PUSL1 AU NM_153339 exon6 c.1990-9A>G 0.951877 0.9127 0.976857 0.9629 0.9119 Uncertain 1_1247578_-->GG 1 1247578 1247578 - GG indel 447.73 1/1 42 19 0 19 1.0 intronic CPSF3L AU NM_017871 exon3 c.367-27insGG 0.0581 0.1234 Uncertain 1_1254136_G->A 1 1254136 1254136 G A snp 1733.77 1/1 99 59 0 59 1.0 intronic rs4970432 CPSF3L AU NM_017871 exon14 c.7437-539G>A 0.719249 0.8333 Uncertain 1_1254436_A->G 1 1254436 1254436 A G snp 3512.77 1/1 99 128 0 128 1.0 intronic rs1886773 CPSF3L AU NM_017871 exon14 c.7437-239A>G 0.873403 0.8353 0.9102 0.8314 Uncertain 1_1254443_G->A 1 1254443 1254443 G A snp 3630.77 1/1 99 136 0 136 1.0 intronic rs1886772 CPSF3L AU NM_017871 exon14 c.7437-232G>A 0.713458 0.8343 0.8608 0.8358 Uncertain 1_1254841_C->G 1 1254841 1254841 C G snp 3428.77 1/1 99 124 1 123 0.99 exonic rs10907179 CPSF3L AU synonymous SNV NM_017871 exon4 c.G264C p.G88G 0.713658 0.8353 0.751269 0.8476 0.8258 Uncertain 1_1257593_A->G 1 1257593 1257593 A G snp 798.77 1/1 60 21 0 21 1.0 intronic rs1810745 CPSF3L AU NM_001256456 exon17 c.10126+229A>G 0.869209 0.8393 Uncertain 1_1262591_C->T 1 1262591 1262591 C T snp 3967.77 1/1 99 142 0 142 1.0 intronic rs2296472 CPTP AU NM_001029885 exon3 c.330-29C>T 0.719848 0.8323 0.759806 0.8515 0.8255 Uncertain 1_1262966_C->T 1 1262966 1262966 C T snp 4417.77 1/1 99 165 0 165 1.0 exonic rs307349 CPTP AU synonymous SNV NM_001029885 exon3 c.C468T p.R156R 0.76258 0.8323 0.813060 0.8716 0.8336 Uncertain 1_1263144_G->A 1 1263144 1263144 G A snp 3092.77 1/1 99 110 0 110 1.0 UTR3 rs307350 CPTP AU 0.84984 0.8313 0.908324 0.8897 0.8253 Uncertain 1_1268847_T->G 1 1268847 1268847 T G snp 7561.77 1/1 99 249 2 247 0.99 intronic rs307378 TAS1R3 AU NM_152228 exon6 c.2160-38T>G 0.951677 0.9127 0.977308 0.9612 0.9122 Uncertain 1_1269554_T->C 1 1269554 1269554 T C snp 4982.77 1/1 99 174 0 174 1.0 exonic rs307377 TAS1R3 AU nonsynonymous SNV NM_152228 exon6 c.T2269C p.C757R 0.951877 0.9137 0.977375 0.9613 0.9128 0.33 T 0.0 P -0.948 T 0.0 T 0.0 T ID=CM098260;DIS=Insensitivity to glutamate taste, association with;TAG=DP;PUB=19571223 DP Pathogenic 1_1273116_A->G 1 1273116 1273116 A G snp 3733.77 1/1 99 145 0 145 1.0 intronic rs307371 DVL1 AD NM_004421 exon2 c.1835-240A>G 0.769569 0.8333 0.8717 0.8554 Uncertain 1_1273278_A->G 1 1273278 1273278 A G snp 331.77 0/1 99 19 7 12 0.63 intronic rs307370 DVL1 AD NM_004421 exon2 c.1835-78A>G 0.684305 0.623 0.7393 0.6894 Uncertain 1_1275291_G->A 1 1275291 1275291 G A snp 1223.77 1/1 96 42 1 41 0.98 intronic rs11582808 DVL1 AD NM_004421 exon7 c.3671+99G>A Uncertain 1_1275329_T->C 1 1275329 1275329 T C snp 309.18 0/1 10 10 1 9 0.9 intronic rs11585534 DVL1 AD NM_004421 exon8 c.3896-88T>C Uncertain 1_1275330_A->G 1 1275330 1275330 A G snp 315.03 0/1 12 10 1 9 0.9 intronic rs11585063 DVL1 AD NM_004421 exon8 c.3896-87A>G Uncertain 1_1276931_CA->- 1 1276931 1276932 CA - indel 6877.73 1/1 99 149 0 149 1.0 intronic rs372060668 DVL1 AD NM_004421 exon11 c.5525-115_5525-114delCA 0.376597 0.8611 Uncertain 1_1276973_-->ACAC 1 1276973 1276973 - ACAC indel 15971.7 1/1 99 241 0 241 1.0 intronic rs145370195 DVL1 AD NM_004421 exon11 c.5525-73insACAC 0.747005 0.744 Uncertain 1_1277533_T->C 1 1277533 1277533 T C snp 2279.77 1/1 99 85 0 85 1.0 exonic rs307362 DVL1 AD synonymous SNV NM_004421 exon4 c.A366G p.P122P 0.998003 0.999 0.999072 0.9976 0.9977 Uncertain 1_1278237_T->C 1 1278237 1278237 T C snp 3109.77 1/1 99 96 1 95 0.99 intronic rs307361 DVL1 AD NM_004421 exon14 c.6617+99T>C 0.951677 0.9127 Uncertain 1_1284490_G->A 1 1284490 1284490 G A snp 1651.77 1/1 99 53 0 53 1.0 UTR5 rs150789461 DVL1 AD 0.762979 0.8234 0.873124 0.8973 0.8689 Uncertain 1_1288471_C->T 1 1288471 1288471 C T snp 290.78 1/1 24 10 0 10 1.0 UTR3 rs3766183 MXRA8 AU 0.766374 0.8333 Uncertain 1_1288583_C->G 1 1288583 1288583 C G snp 1587.77 1/1 99 59 0 59 1.0 UTR3 rs3845295 MXRA8 AU 0.84365 0.8423 Uncertain 1_1288823_A->G 1 1288823 1288823 A G snp 577.77 1/1 42 20 0 20 1.0 UTR3 rs2296471 MXRA8 AU 0.760783 0.8333 Uncertain 1_1289368_TG->- 1 1289368 1289369 TG - indel 7765.73 1/1 99 147 0 147 1.0 intronic rs140777846 MXRA8 AU NM_032348 exon3 c.426-41_426-40delTG 0.820687 0.8333 0.874480 0.8809 0.8231 Uncertain 1_1289911_G->A 1 1289911 1289911 G A snp 3036.77 1/1 99 103 1 102 0.99 intronic rs4970365 MXRA8 AU NM_032348 exon5 c.906+22G>A 0.828474 0.8333 0.887059 0.8850 0.8293 Uncertain 1_1296691_C->G 1 1296691 1296691 C G snp 2337.77 1/1 99 81 0 81 1.0 UTR5 rs2765025 MXRA8 AU 0.951478 0.9127 0.9426 0.9375 Uncertain 1_1296818_C->G 1 1296818 1296818 C G snp 50.74 1/1 6 2 0 2 1.0 UTR5 rs2765024 MXRA8 AU 0.951078 0.9127 Uncertain 1_1309885_A->G 1 1309885 1309885 A G snp 2421.77 1/1 99 85 0 85 1.0 intronic rs35745967 AURKAIP1 AU NM_001127230 exon2 c.645+60A>G 0.392772 0.8641 Uncertain 1_1310074_C->G 1 1310074 1310074 C G snp 2952.77 1/1 99 106 0 106 1.0 intronic rs2765035 AURKAIP1 AU NM_001127230 exon3 c.904-10C>G 0.829073 0.9038 0.859385 0.8943 0.8834 Uncertain 1_1323946_TC->- 1 1323946 1323947 TC - indel 340.77 1/1 21 11 1 10 0.91 intronic rs70949586 CCNL2 AU NM_030937 exon3 c.835+501_835+502delTC Uncertain 1_1330726_A->G 1 1330726 1330726 A G snp 1878.77 1/1 99 69 0 69 1.0 intronic rs1240746 CCNL2 AU NM_030937 exon8 c.8163-47A>G 0.68111 0.9792 0.388675 0.4260 0.9857 Uncertain 1_1333436_C->A 1 1333436 1333436 C A snp 56.74 1/1 6 2 0 2 1.0 intronic rs1240743 CCNL2 AU NM_030937 exon9 c.11002-176C>A 0.86242 0.997 Uncertain 1_1333598_C->A 1 1333598 1333598 C A snp 3370.77 1/1 99 126 0 126 1.0 intronic rs35242196 CCNL2 AU NM_030937 exon9 c.11002-14C>A 0.370607 0.869 0.114332 0.2428 0.8799 Uncertain 1_1335790_A->G 1 1335790 1335790 A G snp 2090.77 1/1 99 59 0 59 1.0 ncRNA_intronic rs1240708 LOC148413 AU 0.653355 0.9792 Uncertain 1_1336137_GA->- 1 1336137 1336138 GA - indel 2529.73 1/1 99 52 0 52 1.0 ncRNA_exonic rs34091023 LOC148413 AU 0.370807 0.869 0.3323 0.8939 Uncertain 1_1337334_G->T 1 1337334 1337334 G T snp 347.78 1/1 27 9 0 9 1.0 ncRNA_exonic rs1171 LOC148413 AU 0.370807 0.869 Uncertain 1_1342612_G->C 1 1342612 1342612 G C snp 2384.77 1/1 99 81 0 81 1.0 UTR5 rs2275915 MRPL20 AU 0.430312 0.871 0.190218 0.3527 0.8712 Uncertain 1_1361544_G->A 1 1361544 1361544 G A snp 353.77 0/1 99 30 14 16 0.53 exonic rs145806019 TMEM88B AU nonsynonymous SNV NM_001146685 exon1 c.G37A p.G13R 0.0119808 0.0595 0.0050 0.0672 Pathogenic 1_1361633_G->A 1 1361633 1361633 G A snp 828.77 1/1 60 33 0 33 1.0 exonic rs12022947 TMEM88B AU synonymous SNV NM_001146685 exon1 c.G126A p.S42S 0.39996 0.875 0.4492 0.9066 Uncertain 1_1361641_C->T 1 1361641 1361641 C T snp 796.77 1/1 57 32 0 32 1.0 exonic rs12030806 TMEM88B AU nonsynonymous SNV NM_001146685 exon1 c.C134T p.P45L 0.68131 0.9891 0.6274 0.9933 Pathogenic 1_1363123_C->A 1 1363123 1363123 C A snp 777.77 0/1 99 86 49 37 0.43 exonic rs185086231 TMEM88B AU nonsynonymous SNV NM_001146685 exon2 c.C448A p.P150T 0.0053 0.1316 Pathogenic 1_1374834_A->G 1 1374834 1374834 A G snp 672.9 1/1 15 25 1 24 0.96 exonic rs1892289 VWA1 AU synonymous SNV NM_022834 exon3 c.A1005G p.P335P 0.669728 0.9911 0.5299 1 Uncertain 1_1386000_G->A 1 1386000 1386000 G A snp 858.77 0/1 99 97 53 44 0.45 UTR5 ATAD3C AU Uncertain 1_1386016_A->G 1 1386016 1386016 A G snp 976.77 0/1 99 104 58 46 0.44 UTR5 rs34301361 ATAD3C AU 0.272564 0.3819 0.2325 0.3759 Uncertain 1_1387348_C->T 1 1387348 1387348 C T snp 1509.77 0/1 99 117 59 58 0.5 intronic rs1781143 ATAD3C AU NM_001039211 exon2 c.1362-77C>T 0.413139 0.497 Uncertain 1_1387667_C->G 1 1387667 1387667 C G snp 6811.77 1/1 99 250 0 250 1.0 intronic rs1781144 ATAD3C AU NM_001039211 exon3 c.1681-77C>G 1 1 Uncertain 1_1387726_A->G 1 1387726 1387726 A G snp 1839.77 0/1 99 228 144 84 0.37 intronic rs9793066 ATAD3C AU NM_001039211 exon3 c.1681-18A>G 0.290535 0.3919 0.167105 0.2432 0.3776 Uncertain 1_1387764_G->A 1 1387764 1387764 G A snp 1383.77 0/1 99 153 94 59 0.39 exonic rs9793256 ATAD3C AU nonsynonymous SNV NM_001039211 exon3 c.G172A p.G58R 0.279952 0.3849 0.164915 0.2282 0.3727 0.04 T 1.000 P -1.539 T 0.999 D 0.99 D Pathogenic 1_1387891_A->G 1 1387891 1387891 A G snp 553.77 1/1 42 17 0 17 1.0 intronic rs1624483 ATAD3C AU NM_001039211 exon3 c.1751+77A>G 0.679513 0.9911 Uncertain 1_1387920_G->A 1 1387920 1387920 G A snp 148.77 0/1 99 12 3 9 0.75 intronic rs1625156 ATAD3C AU NM_001039211 exon3 c.1751+106G>A 0.39397 0.495 Uncertain 1_1389695_C->T 1 1389695 1389695 C T snp 516.77 1/1 39 27 1 26 0.96 intronic rs2986582 ATAD3C AU NM_001039211 exon4 c.3661-29C>T 0.668131 0.9871 0.4729 0.9637 Uncertain 1_1389886_G->A 1 1389886 1389886 G A snp 320.77 0/1 99 21 8 13 0.62 splicing rs112630825 ATAD3C AU NM_001039211 exon4 c.3817+6G>A 0.0295527 0.0169 0.0231 0.0296 Pathogenic 1_1390717_A->G 1 1390717 1390717 A G snp 44.77 0/1 33 4 2 2 0.5 intronic rs1695866 ATAD3C AU NM_001039211 exon5 c.4776-122A>G 0.426917 0.499 Uncertain 1_1390875_C->T 1 1390875 1390875 C T snp 449.77 0/1 99 41 19 22 0.54 exonic rs1781147 ATAD3C AU synonymous SNV NM_001039211 exon5 c.C414T p.D138D 0.42512 0.499 0.278800 0.3062 0.5 Uncertain 1_1390997_T->G 1 1390997 1390997 T G snp 1422.77 1/1 99 40 0 40 1.0 intronic rs1781148 ATAD3C AU NM_001039211 exon5 c.4836+98T>G 0.680312 0.9911 Uncertain 1_1391304_T->C 1 1391304 1391304 T C snp 630.77 0/1 99 52 30 22 0.42 intronic rs1695873 ATAD3C AU NM_001039211 exon6 c.5233+8T>C 0.427516 0.502 0.277486 0.3075 0.4966 Uncertain 1_1391597_T->C 1 1391597 1391597 T C snp 139.9 1/1 15 75 14 61 0.81 intronic rs2489824 ATAD3C AU NM_001039211 exon7 c.5541-7T>C 0.0022 0.5667 Uncertain 1_1392439_A->G 1 1392439 1392439 A G snp 119.78 0/1 27 5 1 4 0.8 intronic rs138918243 ATAD3C AU NM_001039211 exon8 c.6445-69A>G 0.0515176 0.0139 Uncertain 1_1392440_T->C 1 1392440 1392440 T C snp 191.8 0/1 21 7 1 6 0.86 intronic rs187077523 ATAD3C AU NM_001039211 exon8 c.6445-68T>C 0.0515176 0.0139 Uncertain 1_1392451_C->T 1 1392451 1392451 C T snp 346.77 0/1 99 16 5 11 0.69 intronic rs1781149 ATAD3C AU NM_001039211 exon8 c.6445-57C>T 0.441693 0.499 0.305129 Uncertain 1_1392722_A->C 1 1392722 1392722 A C snp 794.77 0/1 99 39 15 24 0.62 intronic rs113946614 ATAD3C AU NM_001039211 exon8 c.6497+162A>C 0.0383387 0.0129 Uncertain 1_1392726_G->A 1 1392726 1392726 G A snp 370.77 0/1 99 37 22 15 0.41 intronic rs77814176 ATAD3C AU NM_001039211 exon8 c.6497+166G>A 0.202676 0.4802 Uncertain 1_1394384_T->C 1 1394384 1394384 T C snp 119.77 0/1 99 7 3 4 0.57 intronic rs1751469 ATAD3C AU NM_001039211 exon9 c.8477-156T>C 0.414137 0.6022 Uncertain 1_1394653_T->C 1 1394653 1394653 T C snp 441.77 0/1 99 44 23 21 0.48 intronic rs34719940 ATAD3C AU NM_001039211 exon9 c.8548+42T>C 0.269768 0.4891 0.108191 0.1141 0.5054 Uncertain 1_1394664_C->- 1 1394664 1394664 C - indel 575.73 0/1 99 35 17 18 0.51 intronic rs76548509 ATAD3C AU NM_001039211 exon9 c.8548+53delC 0.270168 0.4871 0.126246 Uncertain 1_1395179_T->G 1 1395179 1395179 T G snp 143.78 0/1 27 9 2 7 0.78 intronic rs2489823 ATAD3C AU NM_001039211 exon9 c.8548+568T>G 0.258387 0.4881 Uncertain 1_1395402_C->T 1 1395402 1395402 C T snp 141.77 0/1 99 9 4 5 0.56 intronic rs372710996 ATAD3C AU NM_001039211 exon10 c.10066-727C>T 0.391773 0.5923 Uncertain 1_1395403_A->G 1 1395403 1395403 A G snp 119.77 0/1 99 8 4 4 0.5 intronic rs375327545 ATAD3C AU NM_001039211 exon10 c.10066-726A>G 0.391773 0.5923 Uncertain 1_1395404_G->C 1 1395404 1395404 G C snp 117.77 0/1 99 8 4 4 0.5 intronic rs369885742 ATAD3C AU NM_001039211 exon10 c.10066-725G>C 0.391773 0.5923 Uncertain 1_1396238_G->T 1 1396238 1396238 G T snp 2201.77 0/1 99 147 56 91 0.62 exonic rs72896283 ATAD3C AU synonymous SNV NM_001039211 exon10 c.G921T p.A307A 0.258187 0.4861 0.094831 0.1069 0.4953 Uncertain 1_1396338_G->A 1 1396338 1396338 G A snp 624.77 0/1 99 40 18 22 0.55 intronic rs76815729 ATAD3C AU NM_001039211 exon10 c.10234+41G>A 0.255591 0.4861 0.093298 0.1023 0.4960 Uncertain 1_1403972_-->G 1 1403972 1403972 - G indel 2257.73 1/1 99 60 0 60 1.0 UTR3 rs111566296 ATAD3C AU 0.414936 0.62 0.205588 0.2290 0.6415 Uncertain 1_1404016_G->A 1 1404016 1404016 G A snp 434.77 0/1 99 32 17 15 0.47 UTR3 rs12089719 ATAD3C AU 0.282548 0.4871 0.117617 0.1329 0.5100 Uncertain 1_1407372_T->C 1 1407372 1407372 T C snp 59.74 1/1 6 3 0 3 1.0 exonic rs188574574 ATAD3B AU synonymous SNV NM_031921 exon1 c.T108C p.G36G 0.6877 0.9891 0.2748 . Uncertain 1_1407538_C->G 1 1407538 1407538 C G snp 223.84 1/1 18 8 0 8 1.0 intronic rs78689788 ATAD3B AU NM_031921 exon1 c.205+69C>G 0.388379 0.62 Uncertain 1_1407554_T->C 1 1407554 1407554 T C snp 151.77 0/1 99 14 8 6 0.43 intronic ATAD3B AU NM_031921 exon1 c.205+85T>C Uncertain 1_1407740_G->A 1 1407740 1407740 G A snp 181.77 0/1 99 14 6 8 0.57 intronic rs190009463 ATAD3B AU NM_031921 exon1 c.205+271G>A 0.019369 0.0089 Uncertain 1_1414585_A->C 1 1414585 1414585 A C snp 135.9 1/1 15 8 0 8 1.0 intronic rs1153101 ATAD3B AU NM_031921 exon4 c.7224+97A>C Uncertain 1_1416370_T->C 1 1416370 1416370 T C snp 653.77 1/1 51 19 0 19 1.0 intronic rs1153096 ATAD3B AU NM_031921 exon5 c.9052+54T>C 0.437101 0.5813 Uncertain 1_1417696_C->G 1 1417696 1417696 C G snp 580.77 1/1 45 35 0 35 1.0 intronic rs819970 ATAD3B AU NM_031921 exon6 c.10419+13C>G 0.891573 0.999 0.6499 0.9978 Uncertain 1_1417782_A->G 1 1417782 1417782 A G snp 588.77 1/1 48 24 0 24 1.0 intronic rs819971 ATAD3B AU NM_031921 exon6 c.10419+99A>G 0.54353 0.6786 Uncertain 1_1418004_T->C 1 1418004 1418004 T C snp 2289.77 1/1 99 85 0 85 1.0 intronic rs819972 ATAD3B AU NM_031921 exon7 c.10730+10T>C 0.231852 0.2099 0.5711 1 N -0.956 T Uncertain 1_1420570_CCCTC->- 1 1420570 1420574 CCCTC - indel 520.73 0/1 99 15 7 8 0.53 intronic rs370138022 ATAD3B AU NM_031921 exon8 c.13287+19_13287+23delCCCTC 0.019369 0.0079 0.006489 0.0052 0.0045 Uncertain 1_1421531_C->A 1 1421531 1421531 C A snp 5255.77 1/1 99 206 0 206 1.0 exonic rs819976 ATAD3B AU synonymous SNV NM_031921 exon10 c.C1005A p.T335T 0.482628 0.622 0.294679 0.2476 0.6323 Uncertain 1_1421916_T->C 1 1421916 1421916 T C snp 184.77 0/1 99 195 161 34 0.17 intronic rs201951488 ATAD3B AU NM_031921 exon11 c.14659-7T>C 0.2466 0.3733 Uncertain 1_1421991_G->A 1 1421991 1421991 G A snp 1776.77 0/1 99 140 40 100 0.71 exonic rs860213 ATAD3B AU nonsynonymous SNV NM_031921 exon11 c.G1157A p.R386Q 0.386182 0.5764 0.2149 0.5837 0.03 T 1.0 P -0.900 T 1.0 D 0.99 D Pathogenic 1_1423267_A->G 1 1423267 1423267 A G snp 2960.77 1/1 99 113 1 112 0.99 exonic rs819977 ATAD3B AU synonymous SNV NM_031921 exon12 c.A1239G p.A413A 0.486821 0.626 0.301676 0.2539 0.6383 Uncertain 1_1424695_G->A 1 1424695 1424695 G A snp 949.77 0/1 99 90 52 38 0.42 intronic rs144622790 ATAD3B AU NM_031921 exon13 c.17390+41G>A 0.0159744 0.0099 0.007618 0.0150 0.0114 Uncertain 1_1425502_A->G 1 1425502 1425502 A G snp 434.77 0/1 99 31 14 17 0.55 intronic rs2242395 ATAD3B AU NM_031921 exon14 c.18372-134A>G 0.254992 0.4881 Uncertain 1_1425700_T->C 1 1425700 1425700 T C snp 7418.77 1/1 99 247 0 247 1.0 exonic rs819980 ATAD3B AU synonymous SNV NM_031921 exon14 c.T1401C p.I467I 0.485823 0.623 0.302876 0.2546 0.6331 Uncertain 1_1426003_G->A 1 1426003 1426003 G A snp 1387.77 0/1 99 181 106 75 0.41 exonic rs143153541 ATAD3B AU synonymous SNV NM_031921 exon15 c.G1566A p.T522T 0.0623003 0.2282 0.001866 0.0330 0.2400 Uncertain 1_1430737_G->A 1 1430737 1430737 G A snp 244.77 0/1 99 22 12 10 0.45 intronic rs28394081 ATAD3B AU NM_031921 exon16 c.23600-127G>A 0.235024 0.4901 Uncertain 1_1447692_G->A 1 1447692 1447692 G A snp 129.77 0/1 99 13 5 8 0.62 exonic rs2274435 ATAD3A AU nonsynonymous SNV NM_001170535 exon1 c.G44A p.G15D 0.179712 0.3343 0.032958 0.1276 0.4457 0.49 T 1.000 P -1.081 T 0.608 T 0.205 P ID=COSM3688961;OCCURENCE=1(large_intestine) Pathogenic 1_1447756_G->C 1 1447756 1447756 G C snp 174.9 1/1 15 7 0 7 1.0 exonic rs1240736 ATAD3A AU synonymous SNV NM_001170535 exon1 c.G108C p.G36G 0.46226 0.505 0.2371 0 Uncertain 1_1448100_A->G 1 1448100 1448100 A G snp 213.77 0/1 99 18 8 10 0.56 intronic rs143610735 ATAD3A AU NM_001170535 exon1 c.205+247A>G 0.0327476 0.0119 0.0442 0.0101 Uncertain 1_1451380_T->C 1 1451380 1451380 T C snp 3363.77 1/1 99 132 0 132 1.0 intronic rs9439458 ATAD3A AU NM_001170535 exon2 c.3743-11T>C 0.470847 0.506 0.338536 0.2836 0.5073 Uncertain 1_1451489_T->C 1 1451489 1451489 T C snp 1000.77 1/1 75 29 0 29 1.0 intronic rs9439459 ATAD3A AU NM_001170536 exon2 c.45+21T>C 0.288738 0.371 0.137716 0.1367 0.3763 Uncertain 1_1451490_G->A 1 1451490 1451490 G A snp 939.77 1/1 72 28 0 28 1.0 intronic rs9439460 ATAD3A AU NM_001170536 exon2 c.45+22G>A 0.284345 0.37 0.127912 0.1357 0.3760 Uncertain 1_1452482_G->A 1 1452482 1452482 G A snp 102.77 0/1 99 28 23 5 0.18 intronic rs113256690 ATAD3A AU NM_018188 exon3 c.4898-64G>A Uncertain 1_1452551_G->A 1 1452551 1452551 G A snp 127.77 0/1 99 55 46 9 0.16 exonic rs1619925 ATAD3A AU nonsynonymous SNV NM_018188 exon3 c.G287A p.R96Q 0.177915 0.3323 0.0268 0.2168 0.37 T 0.000 P -0.919 T 0.0 T 0.0 T Pathogenic 1_1452566_G->A 1 1452566 1452566 G A snp 72.77 0/1 99 58 51 7 0.12 exonic rs1619896 ATAD3A AU nonsynonymous SNV NM_018188 exon3 c.G302A p.S101N 0.172724 0.3214 0.0091 0.1020 0.52 T 1 N -1.012 T 0.029 T 0.028 T Pathogenic 1_1454069_A->C 1 1454069 1454069 A C snp 178.77 0/1 99 45 35 10 0.22 intronic rs12032157 ATAD3A AU NM_001170536 exon5 c.2877-231A>C Uncertain 1_1454272_T->A 1 1454272 1454272 T A snp 2223.77 0/1 99 250 161 89 0.36 intronic rs10159059 ATAD3A AU NM_001170536 exon5 c.2877-28T>A 0.210264 0.3542 0.087806 0.0879 0.3608 Uncertain 1_1455477_C->T 1 1455477 1455477 C T snp 50.77 0/1 79 16 13 3 0.19 intronic rs3128349 ATAD3A AU NM_001170536 exon6 c.4097-43C>T 0.0621006 0.0139 0.0071 0.0011 Uncertain 1_1458032_C->T 1 1458032 1458032 C T snp 71.77 0/1 99 9 6 3 0.33 intronic rs12068889 ATAD3A AU NM_001170536 exon8 c.6700-91C>T 0.0680911 0.0119 Uncertain 1_1458073_A->G 1 1458073 1458073 A G snp 236.77 0/1 99 28 18 10 0.36 intronic rs3118507 ATAD3A AU NM_001170536 exon8 c.6700-50A>G 0.0828674 0.003 0.157712 0.1693 0.0026 Uncertain 1_1458150_T->C 1 1458150 1458150 T C snp 332.77 0/1 99 48 30 18 0.38 exonic rs1135025 ATAD3A AU synonymous SNV NM_001170535 exon8 c.T777C p.V259V 0.0267572 0.0109 0.008156 0.0154 0.0112 1 D -0.767 T Likely benign 1_1458255_T->G 1 1458255 1458255 T G snp 179.77 0/1 99 20 12 8 0.4 exonic rs28675990 ATAD3A AU synonymous SNV NM_001170535 exon8 c.T882G p.L294L 0.238618 0.3879 0.0598 0.2585 1.0 P Uncertain 1_1458285_A->G 1 1458285 1458285 A G snp 398.77 1/1 30 15 0 15 1.0 splicing rs6675874 ATAD3A AU NM_001170536 exon8 c.6856+6A>G 0.334465 0.3492 0.0762 0.0795 Pathogenic 1_1458954_C->T 1 1458954 1458954 C T snp 184.77 0/1 99 24 13 11 0.46 intronic rs3737714 ATAD3A AU NM_001170536 exon9 c.7524+7C>T 0.214257 0.3581 0.095956 0.0926 0.3635 Uncertain 1_1459582_G->A 1 1459582 1459582 G A snp 3740.77 1/1 99 190 25 165 0.87 intronic rs74508282 ATAD3A AU NM_001170536 exon11 c.8229-70G>A 0.346246 0.381 Uncertain 1_1463318_C->A 1 1463318 1463318 C A snp 598.77 0/1 99 30 11 19 0.63 intronic rs11260608 ATAD3A AU NM_001170536 exon14 c.11819+76C>A 0.296126 0.4881 Uncertain 1_1463337_C->T 1 1463337 1463337 C T snp 215.77 0/1 99 11 4 7 0.64 intronic rs9439443 ATAD3A AU NM_001170536 exon14 c.11819+95C>T 0.255391 0.3492 Uncertain 1_1469221_T->C 1 1469221 1469221 T C snp 157.77 0/1 99 15 7 8 0.53 intronic rs6698376 ATAD3A AU NM_001170536 exon16 c.17882-84T>C 0.463059 0.5397 Uncertain 1_1469235_G->A 1 1469235 1469235 G A snp 274.77 0/1 99 20 8 12 0.6 intronic rs60473728 ATAD3A AU NM_001170536 exon16 c.17882-70G>A 0.152157 0.1468 Uncertain 1_1469263_G->T 1 1469263 1469263 G T snp 489.77 0/1 99 41 21 20 0.49 intronic rs6681228 ATAD3A AU NM_001170536 exon16 c.17882-42G>T 0.319089 0.4187 0.150361 0.1371 0.3728 Uncertain 1_1469546_G->A 1 1469546 1469546 G A snp 1191.77 1/1 87 36 0 36 1.0 UTR3 rs3128344 ATAD3A AU 0.838458 0.9931 Uncertain 1_1469598_C->G 1 1469598 1469598 C G snp 182.9 1/1 15 5 0 5 1.0 UTR3 rs9439464 ATAD3A AU 0.720647 0.9405 Uncertain 1_1469599_G->C 1 1469599 1469599 G C snp 175.9 1/1 15 5 0 5 1.0 UTR3 rs3128343 ATAD3A AU 0.722045 0.9405 Uncertain 1_1475801_C->T 1 1475801 1475801 C T snp 339.77 0/1 99 31 13 18 0.58 upstream rs190482382 TMEM240 AD 0.0656949 0.0823 Uncertain 1_1477244_T->C 1 1477244 1477244 T C snp 383.77 1/1 30 10 0 10 1.0 UTR3 rs7290 SSU72 AU 0.697883 0.8671 Uncertain 1_1479186_C->A 1 1479186 1479186 C A snp 427.77 0/1 99 37 19 18 0.49 intronic rs145399149 SSU72 AU NM_014188 exon2 c.1803-62C>A 0.071885 0.0873 0.0708 0.0917 Uncertain 1_1479333_A->G 1 1479333 1479333 A G snp 4049.77 1/1 99 150 0 150 1.0 exonic rs7533 SSU72 AU synonymous SNV NM_014188 exon4 c.T399C p.P133P 0.69369 0.8671 0.471782 0.4601 0.8837 Uncertain 1_1480226_C->T 1 1480226 1480226 C T snp 2720.77 0/1 99 224 101 123 0.55 intronic rs116703397 SSU72 AU NM_014188 exon3 c.2797-16C>T 0.0716853 0.0873 0.032600 0.0684 0.0898 Uncertain 1_1509825_A->G 1 1509825 1509825 A G snp 2995.77 1/1 99 116 0 116 1.0 intronic rs6666293 SSU72 AU NM_014188 exon5 c.32412-32A>G 0.701278 0.87 0.481024 0.5290 0.8906 Uncertain 1_1510036_GC->- 1 1510036 1510037 GC - indel 1044.73 1/1 63 25 0 25 1.0 UTR5 rs150737039 SSU72 AU 0.66893 0.869 Uncertain 1_1510724_C->T 1 1510724 1510724 C T snp 385.77 0/1 99 41 25 16 0.39 upstream rs77661767 SSU72 AU 0.0970447 0.0893 Uncertain 1_1510801_C->T 1 1510801 1510801 C T snp 216.84 1/1 18 6 0 6 1.0 upstream rs7519837 SSU72 AU 0.695687 0.87 Uncertain 1_1534710_G->C 1 1534710 1534710 G C snp 867.77 0/1 99 65 32 33 0.51 UTR3 rs79079518 C1orf233 AU 0.0485224 0.1895 0.0435 0.3431 Uncertain 1_1552097_G->A 1 1552097 1552097 G A snp 1301.77 0/1 99 130 70 60 0.46 intronic rs28502067 MIB2 AU NM_001170687 exon2 c.1155+103G>A 0.052516 0.2073 Uncertain 1_1558792_T->C 1 1558792 1558792 T C snp 241.77 0/1 99 34 22 12 0.35 exonic rs12755088 MIB2 AU nonsynonymous SNV NM_001170686 exon3 c.T305C p.M102T 0.773562 0.5516 0.885588 0.8797 0.6241 0.31 T 0.0 P -1.000 T 0.013 T 0.004 T Pathogenic 1_1559971_C->T 1 1559971 1559971 C T snp 271.78 1/1 24 9 0 9 1.0 intronic rs12748433 MIB2 AU NM_001170687 exon5 c.9335-203C>T 0.813498 0.7093 Uncertain 1_1560103_C->T 1 1560103 1560103 C T snp 2578.77 0/1 99 195 87 108 0.55 intronic rs28635343 MIB2 AU NM_001170687 exon5 c.9335-71C>T 0.240415 0.2946 Uncertain 1_1562437_C->G 1 1562437 1562437 C G snp 1253.77 0/1 99 101 53 48 0.48 intronic rs28510084 MIB2 AU NM_001170687 exon11 c.11614-16C>G 0.440495 0.3145 0.335976 0.3586 0.3846 Uncertain 1_1562895_C->T 1 1562895 1562895 C T snp 249.8 1/1 21 8 0 8 1.0 intronic rs12735861 MIB2 AU NM_001170687 exon12 c.11985+71C>T 0.548323 0.5496 Uncertain 1_1564712_G->T 1 1564712 1564712 G T snp 1010.77 0/1 99 84 36 48 0.57 intronic rs61774907 MIB2 AU NM_001170687 exon17 c.13852+21G>T 0.220647 0.252 0.223833 0.4143 0.3334 Uncertain 1_1566065_-->G 1 1566065 1566065 - G indel 363.73 1/1 52 36 2 34 0.94 downstream rs139398711 MIB2 AU Uncertain 1_1566068_A->G 1 1566068 1566068 A G snp 902.77 1/1 66 27 0 27 1.0 downstream rs28730454 MIB2 AU Uncertain 1_1571640_G->T 1 1571640 1571640 G T snp 130.77 0/1 99 27 21 6 0.22 intronic rs61774909 CDK11B AU NM_001787 exon3 c.569-54G>T 0.244209 0.2163 Uncertain 1_1572939_T->C 1 1572939 1572939 T C snp 436.77 0/1 99 92 63 29 0.32 intronic rs28688376 CDK11B AU NM_001787 exon7 c.1750+64T>C 0.236022 0.1736 Uncertain 1_1572944_C->A 1 1572944 1572944 C A snp 132.77 0/1 99 77 56 21 0.27 intronic rs376482852 CDK11B AU NM_001787 exon7 c.1750+69C>A 0.0357428 0.0526 Uncertain 1_1574019_A->G 1 1574019 1574019 A G snp 174.77 0/1 99 55 40 15 0.27 intronic rs9442412 CDK11B AU NM_001787 exon9 c.2827+67A>G 0.216853 0.1954 Uncertain 1_1575616_T->C 1 1575616 1575616 T C snp 814.77 1/1 66 29 0 29 1.0 intronic rs28394074 CDK11B AU NM_001787 exon10 c.4512-21T>C 0.867412 0.7044 0.8440 0.5702 Uncertain 1_1575836_C->G 1 1575836 1575836 C G snp 838.77 0/1 99 233 167 66 0.28 intronic rs72468213 CDK11B AU NM_001787 exon10 c.4688+23C>G 0.4013 0.3413 Uncertain 1_1576636_G->A 1 1576636 1576636 G A snp 182.9 1/1 15 5 0 5 1.0 intronic rs3765908 CDK11B AU NM_001787 exon11 c.5349+162G>A 0.547324 0.495 Uncertain 1_1580480_C->T 1 1580480 1580480 C T snp 40.77 0/1 69 35 30 5 0.14 intronic CDK11B AU NM_001787 exon14 c.6744+2611C>T Uncertain 1_1580738_T->A 1 1580738 1580738 T A snp 1547.77 0/1 99 141 76 65 0.46 intronic rs149767621 CDK11B AU NM_001787 exon14 c.6744+2869T>A 0.366214 0.4097 0.4710 0.4755 Uncertain 1_1581558_C->T 1 1581558 1581558 C T snp 528.77 1/1 45 17 0 17 1.0 intronic rs61774913 CDK11B AU NM_001787 exon14 c.6744+3689C>T 0.7394 0.4044 Uncertain 1_1581586_T->C 1 1581586 1581586 T C snp 255.78 1/1 24 8 0 8 1.0 intronic rs61774914 CDK11B AU NM_001787 exon14 c.6744+3717T>C 0.875399 0.7054 0.8173 0.4870 Uncertain 1_1581713_A->C 1 1581713 1581713 A C snp 1102.77 0/1 99 156 63 93 0.6 intronic rs76922129 CDK11B AU NM_001787 exon14 c.6744+3844A>C 0.249201 0.2282 0.359615 Uncertain 1_1581759_G->A 1 1581759 1581759 G A snp 2494.77 0/1 99 250 142 108 0.43 intronic rs61774915 CDK11B AU NM_001787 exon14 c.6744+3890G>A Uncertain 1_1581881_T->C 1 1581881 1581881 T C snp 824.77 0/1 99 226 179 47 0.21 intronic rs61774916 CDK11B AU NM_001787 exon14 c.6744+4012T>C Uncertain 1_1581926_G->T 1 1581926 1581926 G T snp 1687.77 0/1 99 135 70 65 0.48 intronic rs61774917 CDK11B AU NM_001787 exon14 c.6744+4057G>T Uncertain 1_1581958_T->C 1 1581958 1581958 T C snp 54.77 0/1 83 65 58 7 0.11 intronic rs200481124 CDK11B AU NM_001787 exon14 c.6744+4089T>C Uncertain 1_1582106_T->C 1 1582106 1582106 T C snp 6494.77 1/1 99 250 0 250 1.0 intronic rs4648753 CDK11B AU NM_001787 exon14 c.6744+4237T>C 0.943462 0.9285 0.7526 Uncertain 1_1582153_T->C 1 1582153 1582153 T C snp 1005.77 0/1 99 250 195 55 0.22 intronic rs376082003 CDK11B AU NM_001787 exon14 c.6744+4284T>C 0.000199681 0.001 0.000081 0.0002 0.0007 Uncertain 1_1582202_C->T 1 1582202 1582202 C T snp 3559.77 0/1 99 249 109 140 0.56 intronic rs61774918 CDK11B AU NM_001787 exon14 c.6744+4333C>T 0.440296 0.4573 Uncertain 1_1582455_G->A 1 1582455 1582455 G A snp 483.77 0/1 99 249 119 130 0.52 intronic rs61774919 CDK11B AU NM_001787 exon14 c.6744+4586G>A Uncertain 1_1582616_T->C 1 1582616 1582616 T C snp 171.77 0/1 99 130 100 30 0.23 intronic rs74047815 CDK11B AU NM_001787 exon14 c.6744+4747T>C Uncertain 1_1582641_T->C 1 1582641 1582641 T C snp 92.77 0/1 99 93 79 14 0.15 intronic rs115373564 CDK11B AU NM_001787 exon14 c.6744+4772T>C Uncertain 1_1582794_C->A 1 1582794 1582794 C A snp 77.28 1/1 9 7 0 7 1.0 intronic rs4648754 CDK11B AU NM_001787 exon14 c.6744+4925C>A Uncertain 1_1582841_A->G 1 1582841 1582841 A G snp 232.77 0/1 99 49 27 22 0.45 intronic rs61774920 CDK11B AU NM_001787 exon14 c.6744+4972A>G Uncertain 1_1582844_G->T 1 1582844 1582844 G T snp 285.77 0/1 99 53 28 25 0.47 intronic rs61774921 CDK11B AU NM_001787 exon14 c.6744+4975G>T Uncertain 1_1582880_G->C 1 1582880 1582880 G C snp 944.77 0/1 99 105 51 54 0.51 intronic rs61774922 CDK11B AU NM_001787 exon14 c.6744+5011G>C Uncertain 1_1582961_G->C 1 1582961 1582961 G C snp 1870.77 0/1 99 198 101 97 0.49 intronic rs3820001 CDK11B AU NM_001787 exon14 c.6744+5092G>C Uncertain 1_1583003_C->T 1 1583003 1583003 C T snp 1545.77 0/1 99 176 93 83 0.47 intronic rs72468214 CDK11B AU NM_001787 exon14 c.6744+5134C>T Uncertain 1_1583088_A->G 1 1583088 1583088 A G snp 135.77 0/1 99 41 30 11 0.27 intronic rs373218489 CDK11B AU NM_001787 exon14 c.6744+5219A>G Uncertain 1_1583277_C->- 1 1583277 1583277 C - indel 247.73 0/1 99 27 18 9 0.33 intronic CDK11B AU NM_001787 exon14 c.6744+5408delC Uncertain 1_1583495_T->C 1 1583495 1583495 T C snp 465.77 0/1 99 108 66 42 0.39 intronic rs61774952 CDK11B AU NM_001787 exon14 c.6744+5626T>C Uncertain 1_1585597_A->G 1 1585597 1585597 A G snp 3948.77 1/1 99 141 0 141 1.0 intronic rs7531938 CDK11B AU NM_001787 exon14 c.6744+7728A>G 0.621805 0.5327 0.650187 0.6858 0.5814 Uncertain 1_1585642_G->T 1 1585642 1585642 G T snp 5507.77 1/1 99 214 0 214 1.0 intronic rs3936009 CDK11B AU NM_001787 exon14 c.6744+7773G>T 0.620407 0.5327 0.649958 0.6735 0.5492 Uncertain 1_1586752_T->C 1 1586752 1586752 T C snp 2186.77 1/1 99 73 0 73 1.0 intronic rs11486023 CDK11B AU NM_001787 exon14 c.6744+8883T>C 0.863019 0.7034 Uncertain 1_1588670_G->A 1 1588670 1588670 G A snp 451.77 0/1 99 58 42 16 0.28 intronic rs61774958 CDK11B AU NM_001787 exon14 c.6744+10801G>A 0.4604 0.4259 Uncertain 1_1588717_G->A 1 1588717 1588717 G A snp 330.77 0/1 99 128 100 28 0.22 intronic rs61774959 CDK11B AU NM_001787 exon14 c.6744+10848G>A 0.4025 0.3371 Uncertain 1_1588737_C->T 1 1588737 1588737 C T snp 350.77 0/1 99 162 131 31 0.19 intronic rs61776760 CDK11B AU NM_001787 exon14 c.6744+10868C>T 0.3704 0.3062 Uncertain 1_1588743_A->T 1 1588743 1588743 A T snp 286.77 0/1 99 179 148 31 0.17 intronic rs61776761 CDK11B AU NM_001787 exon14 c.6744+10874A>T 0.3559 0.2899 Uncertain 1_1591779_C->T 1 1591779 1591779 C T snp 61.77 0/1 48 5 2 3 0.6 intronic rs145892638 CDK11B AU NM_001787 exon14 c.6744+13910C>T Uncertain 1_1591789_A->G 1 1591789 1591789 A G snp 98.03 1/1 12 4 0 4 1.0 intronic rs148316460 CDK11B AU NM_001787 exon14 c.6744+13920A>G Uncertain 1_1599812_C->T 1 1599812 1599812 C T snp 582.77 0/1 99 137 97 40 0.29 exonic rs12729295 SLC35E2B AU nonsynonymous SNV NM_001110781 exon8 c.G934A p.V312I 0.4744 0.4151 1 T 0.999 P -0.998 T 0.384 T 0.064 T Pathogenic 1_1599888_A->G 1 1599888 1599888 A G snp 1629.77 0/1 99 183 101 82 0.45 exonic rs2072923 SLC35E2B AU synonymous SNV NM_001110781 exon8 c.T858C p.S286S 0.5105 0.4662 Uncertain 1_1599940_C->T 1 1599940 1599940 C T snp 461.77 0/1 99 163 105 58 0.36 intronic rs61776767 CDK11B AU NM_001787 exon14 c.6744+22071C>T 0.2179 0.1348 Uncertain 1_1599974_A->C 1 1599974 1599974 A C snp 267.77 0/1 99 110 81 29 0.26 intronic rs113499489 CDK11B AU NM_001787 exon14 c.6744+22105A>C Uncertain 1_1602787_G->T 1 1602787 1602787 G T snp 424.77 1/1 33 15 0 15 1.0 intronic rs4639697 CDK11B AU NM_001787 exon14 c.6744+24918G>T 0.998602 1 Uncertain 1_1603163_C->T 1 1603163 1603163 C T snp 125.78 0/1 25 5 1 4 0.8 intronic rs7532034 CDK11B AU NM_001787 exon14 c.6744+25294C>T 0.379992 0.2847 Uncertain 1_1607686_A->G 1 1607686 1607686 A G snp 266.78 1/1 27 13 0 13 1.0 intronic rs61776788 CDK11B AU NM_001787 exon14 c.6744+29817A>G 0.1068 0.0790 Uncertain 1_1607726_C->T 1 1607726 1607726 C T snp 99.77 0/1 99 18 10 8 0.44 intronic rs4648610 CDK11B AU NM_001787 exon14 c.6744+29857C>T Uncertain 1_1608229_C->T 1 1608229 1608229 C T snp 55.77 0/1 84 28 18 10 0.36 UTR5 rs61776790 SLC35E2B AU 0.264577 0.2163 Uncertain 1_1635004_T->C 1 1635004 1635004 T C snp 1035.77 0/1 99 93 47 46 0.49 exonic rs874516 CDK11A AU synonymous SNV NM_024011 exon18 c.A1971G p.K657K 0.592252 0.3849 0.624052 0.5805 0.3821 Uncertain 1_1635619_T->C 1 1635619 1635619 T C snp 607.77 0/1 99 41 16 25 0.61 intronic rs2076329 CDK11A AU NM_033529 exon5 c.1240+34T>C 0.646965 0.4673 0.687965 0.6106 0.4601 Uncertain 1_1635749_C->A 1 1635749 1635749 C A snp 440.77 0/1 99 45 25 20 0.44 exonic rs55880629 CDK11A AU synonymous SNV NM_024011 exon15 c.G1599T p.R533R 0.397564 0.252 0.471463 0.4717 0.2278 Uncertain 1_1636044_G->A 1 1636044 1636044 G A snp 2321.77 0/1 99 250 138 112 0.45 exonic rs1059822 CDK11A AU synonymous SNV NM_024011 exon14 c.C1509T p.Y503Y 0.647963 0.4643 0.663348 0.5644 0.3992 Uncertain 1_1636209_A->G 1 1636209 1636209 A G snp 235.77 0/1 99 53 38 15 0.28 intronic rs2377228 CDK11A AU NM_033529 exon7 c.1749+115A>G 0.0177716 0.0278 0.0060 0.0088 Uncertain 1_1636274_C->T 1 1636274 1636274 C T snp 675.77 0/1 99 61 31 30 0.49 intronic rs2179381 CDK11A AU NM_033529 exon8 c.1997-68C>T 0.296725 0.249 0.4460 0.2228 Uncertain 1_1639046_C->G 1 1639046 1639046 C G snp 157.77 0/1 99 104 82 22 0.21 intronic rs138369165 CDK11A AU NM_033529 exon10 c.4678+23C>G 0.579473 0.3353 0.2956 0.1177 Uncertain 1_1639801_T->C 1 1639801 1639801 T C snp 199.77 0/1 99 31 16 15 0.48 intronic rs74378830 CDK11A AU NM_033529 exon11 c.5339+117T>C 0.573682 0.4067 Uncertain 1_1644836_G->A 1 1644836 1644836 G A snp 587.77 0/1 99 71 47 24 0.34 intronic rs2179382 CDK11A AU NM_033529 exon15 c.9494+997G>A Uncertain 1_1644908_C->T 1 1644908 1644908 C T snp 1136.77 1/1 84 48 0 48 1.0 intronic rs2179383 CDK11A AU NM_033529 exon15 c.9494+1069C>T 0.725639 0.745 Uncertain 1_1645050_C->T 1 1645050 1645050 C T snp 895.77 1/1 69 42 0 42 1.0 intronic rs77869096 CDK11A AU NM_033529 exon15 c.9494+1211C>T Uncertain 1_1645093_C->T 1 1645093 1645093 C T snp 40.74 1/1 6 11 0 11 1.0 intronic rs80318714 CDK11A AU NM_033529 exon15 c.9494+1254C>T 0.564497 0.631 Uncertain 1_1645366_A->G 1 1645366 1645366 A G snp 154.84 1/1 18 19 0 19 1.0 intronic rs7528782 CDK11A AU NM_033529 exon15 c.9494+1527A>G 0.654952 0.6716 Uncertain 1_1645839_A->- 1 1645839 1645839 A - indel 1235.73 1/1 90 30 0 30 1.0 intronic rs33938712 CDK11A AU NM_033529 exon16 c.13439-1945delA Uncertain 1_1646074_A->G 1 1646074 1646074 A G snp 131.77 0/1 71 32 8 24 0.75 intronic rs201159473 CDK11A AU NM_033529 exon16 c.13439-1710A>G 0.530152 0.5625 Uncertain 1_1646077_G->T 1 1646077 1646077 G T snp 131.77 0/1 71 32 8 24 0.75 intronic rs76473385 CDK11A AU NM_033529 exon16 c.13439-1707G>T 0.530152 0.5625 Uncertain 1_1646113_G->C 1 1646113 1646113 G C snp 170.77 0/1 68 36 8 28 0.78 intronic rs199941510 CDK11A AU NM_033529 exon16 c.13439-1671G>C 0.599241 0.7361 Uncertain 1_1646231_T->C 1 1646231 1646231 T C snp 222.84 1/1 18 10 0 10 1.0 intronic rs3820002 CDK11A AU NM_033529 exon16 c.13439-1553T>C Uncertain 1_1646236_C->T 1 1646236 1646236 C T snp 257.8 1/1 21 11 0 11 1.0 intronic rs61776849 CDK11A AU NM_033529 exon16 c.13439-1548C>T Uncertain 1_1646657_T->C 1 1646657 1646657 T C snp 45.74 1/1 6 8 0 8 1.0 intronic rs760926 CDK11A AU NM_033529 exon16 c.13439-1127T>C 0.749201 0.7798 Uncertain 1_1646789_T->C 1 1646789 1646789 T C snp 232.84 1/1 18 18 0 18 1.0 intronic rs760927 CDK11A AU NM_033529 exon16 c.13439-995T>C 0.749201 0.7798 Uncertain 1_1647686_A->C 1 1647686 1647686 A C snp 220.84 1/1 18 6 0 6 1.0 intronic rs909823 CDK11A AU NM_033529 exon16 c.13439-98A>C 0.751997 0.7788 Uncertain 1_1647722_G->T 1 1647722 1647722 G T snp 580.77 0/1 99 64 43 21 0.33 intronic rs114460890 CDK11A AU NM_033529 exon16 c.13439-62G>T Uncertain 1_1647725_G->A 1 1647725 1647725 G A snp 602.77 0/1 99 69 48 21 0.3 intronic rs368680882 CDK11A AU NM_033529 exon16 c.13439-59G>A Uncertain 1_1647726_T->G 1 1647726 1647726 T G snp 608.77 0/1 99 69 47 22 0.32 intronic rs80025558 CDK11A AU NM_033529 exon16 c.13439-58T>G Uncertain 1_1647729_C->T 1 1647729 1647729 C T snp 597.77 0/1 99 71 50 21 0.3 intronic CDK11A AU NM_033529 exon16 c.13439-55C>T Uncertain 1_1647730_A->G 1 1647730 1647730 A G snp 629.77 0/1 99 74 51 23 0.31 intronic CDK11A AU NM_033529 exon16 c.13439-54A>G Uncertain 1_1647745_G->A 1 1647745 1647745 G A snp 1499.77 0/1 99 129 65 64 0.5 intronic rs72634830 CDK11A AU NM_033529 exon16 c.13439-39G>A 0.4994 0.4989 Uncertain 1_1647753_C->T 1 1647753 1647753 C T snp 1751.77 0/1 99 144 75 69 0.48 intronic rs74045984 CDK11A AU NM_033529 exon16 c.13439-31C>T 0.4997 0.4993 Uncertain 1_1647778_C->G 1 1647778 1647778 C G snp 2387.77 0/1 99 200 102 98 0.49 intronic rs72901773 CDK11A AU NM_033529 exon16 c.13439-6C>G 0.5007 0.5001 Uncertain 1_1647814_T->C 1 1647814 1647814 T C snp 3004.77 0/1 99 250 129 121 0.48 exonic rs72901775 CDK11A AU synonymous SNV NM_001291345 exon5 c.A429G p.E143E 0.5011 0.5005 0.02 T 1.000 P -0.896 T Likely benign 1_1647871_T->C 1 1647871 1647871 T C snp 2801.77 0/1 99 250 136 114 0.46 exonic rs72909014 CDK11A AU synonymous SNV NM_001291345 exon5 c.A372G p.R124R 0.5010 0.5003 Uncertain 1_1647893_-->TTTCTT 1 1647893 1647893 - TTTCTT indel 8086.73 0/1 99 248 133 115 0.46 exonic rs144636354 CDK11A AU nonframeshift insertion NM_001291345 exon5 c.349_350insAAGAAA p.R117delinsKER 0.4974 0.4938 ID=COSM1335905,COSM1335906;OCCURENCE=2(large_intestine) Uncertain 1_1647928_A->G 1 1647928 1647928 A G snp 1461.77 0/1 99 220 146 74 0.34 intronic rs1883424 CDK11A AU NM_033529 exon16 c.13572+11A>G 0.347444 0.5357 0.2984 0.3908 Uncertain 1_1647968_-->AT 1 1647968 1647968 - AT indel 2089.73 0/1 99 141 92 49 0.35 intronic rs146207119 CDK11A AU NM_033529 exon16 c.13572+51insAT Uncertain 1_1647971_G->A 1 1647971 1647971 G A snp 931.77 0/1 99 128 88 40 0.31 intronic rs77394327 CDK11A AU NM_033529 exon16 c.13572+54G>A Uncertain 1_1647983_T->A 1 1647983 1647983 T A snp 823.77 0/1 99 104 70 34 0.33 intronic rs74429813 CDK11A AU NM_033529 exon16 c.13572+66T>A Uncertain 1_1647990_C->T 1 1647990 1647990 C T snp 497.77 0/1 99 80 59 21 0.26 intronic rs76519969 CDK11A AU NM_033529 exon16 c.13572+73C>T Uncertain 1_1648002_C->T 1 1648002 1648002 C T snp 372.77 0/1 99 60 45 15 0.25 intronic rs77107184 CDK11A AU NM_033529 exon16 c.13572+85C>T Uncertain 1_1648018_C->T 1 1648018 1648018 C T snp 156.77 0/1 99 44 35 9 0.2 intronic rs79409185 CDK11A AU NM_033529 exon16 c.13572+101C>T Uncertain 1_1648027_T->C 1 1648027 1648027 T C snp 1012.77 1/1 78 26 0 26 1.0 intronic rs61776857 CDK11A AU NM_033529 exon16 c.13572+110T>C 0.770168 0.7788 Uncertain 1_1650619_C->A 1 1650619 1650619 C A snp 74.77 0/1 99 6 3 3 0.5 intronic rs74763557 CDK11A AU NM_024011 exon17 c.16421-147C>A Uncertain 1_1650640_C->A 1 1650640 1650640 C A snp 297.77 0/1 99 19 10 9 0.47 intronic rs74871563 CDK11A AU NM_024011 exon17 c.16421-126C>A Uncertain 1_1650641_A->C 1 1650641 1650641 A C snp 330.77 0/1 99 19 9 10 0.53 intronic rs79670681 CDK11A AU NM_024011 exon17 c.16421-125A>C Uncertain 1_1650642_T->G 1 1650642 1650642 T G snp 364.77 0/1 99 21 10 11 0.52 intronic rs78989514 CDK11A AU NM_024011 exon17 c.16421-124T>G Uncertain 1_1650657_C->G 1 1650657 1650657 C G snp 709.77 0/1 99 48 25 23 0.48 intronic rs72909028 CDK11A AU NM_024011 exon17 c.16421-109C>G Uncertain 1_1650787_T->C 1 1650787 1650787 T C snp 3191.82 0/1 99 250 125 125 0.5 exonic rs1137003 CDK11A AU nonsynonymous SNV NM_001787 exon4 c.A335G p.H112R 0.5011 0.5007 1 T 1 D -0.873 T 0.001 T 0.002 T Pathogenic 1_1650797_A->G 1 1650797 1650797 A G snp 3211.76 0/1 99 249 127 122 0.49 exonic rs1059830 CDK11A AU nonsynonymous SNV NM_001291345 exon4 c.T325C p.W109R 0.5011 0.5007 1 T 1.000 N -0.904 T 0.012 T 0.001 T Pathogenic 1_1650801_T->C 1 1650801 1650801 T C snp 3170.77 0/1 99 250 127 123 0.49 exonic rs1137004 CDK11A AU synonymous SNV NM_001291345 exon4 c.A321G p.E107E 0.5011 0.5007 Uncertain 1_1650807_T->C 1 1650807 1650807 T C snp 3081.77 0/1 99 250 127 123 0.49 exonic rs1137005 CDK11A AU synonymous SNV NM_001291345 exon4 c.A315G p.R105R 0.747404 0.7788 0.4784 0.4648 Uncertain 1_1650832_A->G 1 1650832 1650832 A G snp 3357.77 0/1 99 250 122 128 0.51 exonic rs72909030 CDK11A AU nonsynonymous SNV NM_001291345 exon4 c.T290C p.V97A 0.5011 0.5007 0.96 T 0.000 P -0.923 T 0.033 T 0.018 T Pathogenic 1_1650845_G->A 1 1650845 1650845 G A snp 3316.77 0/1 99 250 126 124 0.5 exonic rs1059831 CDK11A AU nonsynonymous SNV NM_001291345 exon4 c.C277T p.R93W 0.747404 0.7788 0.449592 0.4784 0.4649 0.08 T 0.990 D -0.768 T 1.0 D 0.999 D ID=CM076089;DIS=Diabetes, type 2, association with;TAG=DP;PUB=17177267 DP Pathogenic 1_1650920_G->A 1 1650920 1650920 G A snp 3018.77 0/1 99 249 129 120 0.48 intronic rs36191908 CDK11A AU NM_033529 exon17 c.16549+26G>A 0.000199681 0.4484 0.3932 Uncertain 1_1650939_G->A 1 1650939 1650939 G A snp 2793.77 0/1 99 235 124 111 0.47 intronic rs201741924 CDK11A AU NM_033529 exon17 c.16549+45G>A 0.0085 0 Uncertain 1_1650940_G->A 1 1650940 1650940 G A snp 2771.77 0/1 99 234 122 112 0.48 intronic rs74345479 CDK11A AU NM_033529 exon17 c.16549+46G>A 0.0001 0.0002 Uncertain 1_1650942_A->G 1 1650942 1650942 A G snp 2734.77 0/1 99 233 124 109 0.47 intronic rs75972011 CDK11A AU NM_033529 exon17 c.16549+48A>G 1.789e-05 0 Uncertain 1_1650960_G->A 1 1650960 1650960 G A snp 2635.77 0/1 99 223 117 106 0.48 intronic rs72634834 CDK11A AU NM_033529 exon17 c.16549+66G>A Uncertain 1_1650967_T->C 1 1650967 1650967 T C snp 2290.77 0/1 99 207 113 94 0.45 intronic rs75384210 CDK11A AU NM_033529 exon17 c.16549+73T>C Uncertain 1_1650996_T->C 1 1650996 1650996 T C snp 1805.77 0/1 99 149 76 73 0.49 intronic rs74223875 CDK11A AU NM_033529 exon17 c.16549+102T>C 0.000199681 Uncertain 1_1651003_G->A 1 1651003 1651003 G A snp 1666.77 0/1 99 132 69 63 0.48 intronic rs76941027 CDK11A AU NM_033529 exon17 c.16549+109G>A 0.000399361 Uncertain 1_1651047_C->T 1 1651047 1651047 C T snp 431.77 0/1 99 44 27 17 0.39 intronic rs72909034 CDK11A AU NM_033529 exon17 c.16549+153C>T Uncertain 1_1651063_T->C 1 1651063 1651063 T C snp 88.77 0/1 99 17 13 4 0.24 intronic rs72634835 CDK11A AU NM_033529 exon17 c.16549+169T>C Uncertain 1_1653004_T->C 1 1653004 1653004 T C snp 3794.77 1/1 99 134 0 134 1.0 intronic rs36039898 CDK11A AU NM_033529 exon18 c.18689-30T>C 0.747404 0.7788 0.808472 0.8485 0.7633 Uncertain 1_1653028_C->T 1 1653028 1653028 C T snp 4308.77 1/1 99 169 0 169 1.0 intronic rs16825265 CDK11A AU NM_033529 exon18 c.18689-6C>T 0.747404 0.7788 0.812770 0.8549 0.7701 Uncertain 1_1653303_T->C 1 1653303 1653303 T C snp 56.74 1/1 6 2 0 2 1.0 intronic rs35548050 CDK11A AU NM_033529 exon18 c.18805+153T>C 0.747804 0.7798 Uncertain 1_1654013_C->G 1 1654013 1654013 C G snp 205.84 1/1 18 9 0 9 1.0 intronic rs74045997 CDK11A AU NM_033529 exon19 c.19801-133C>G 0.659345 0.6448 0.1681 0.0739 Uncertain 1_1654038_G->A 1 1654038 1654038 G A snp 1219.77 1/1 90 37 0 37 1.0 UTR5 rs61777494 CDK11B AU 0.2147 0.0966 Uncertain 1_1654058_C->T 1 1654058 1654058 C T snp 1492.77 1/1 99 47 0 47 1.0 UTR5 rs61777495 CDK11B AU 0.2989 0.1260 Uncertain 1_1654064_A->T 1 1654064 1654064 A T snp 1522.77 1/1 99 49 0 49 1.0 UTR5 rs200615789 CDK11B AU 0.667133 0.7312 0.3583 0.1465 Uncertain 1_1654066_GCG->- 1 1654066 1654068 GCG - indel 2945.73 1/1 99 47 0 47 1.0 UTR5 rs35174499 CDK11B AU 0.667133 0.7312 0.640749 0.3530 0.1417 Uncertain 1_1657021_T->C 1 1657021 1657021 T C snp 996.77 1/1 78 31 0 31 1.0 intronic rs9439499 SLC35E2 AU NM_001199787 exon1 c.9+160T>C Uncertain 1_1657078_A->G 1 1657078 1657078 A G snp 237.78 1/1 24 8 0 8 1.0 intronic rs61776763 SLC35E2 AU NM_001199787 exon1 c.9+217A>G Uncertain 1_1663831_C->T 1 1663831 1663831 C T snp 801.77 0/1 99 78 41 37 0.47 UTR3 rs3817856 SLC35E2 AU 0.285942 0.3026 0.400616 Uncertain 1_1663851_G->C 1 1663851 1663851 G C snp 943.77 0/1 99 85 42 43 0.51 UTR3 rs2294486 SLC35E2 AU 0.301118 0.3403 0.305044 0.4044 0.3950 Uncertain 1_1663861_G->A 1 1663861 1663861 G A snp 1029.77 0/1 99 83 41 42 0.51 UTR3 rs2294487 SLC35E2 AU 0.301118 0.3403 0.306011 0.4313 0.4142 Uncertain 1_1664019_T->C 1 1664019 1664019 T C snp 1159.77 1/1 84 39 0 39 1.0 intronic rs2294488 SLC35E2 AU NM_182838 exon1 c.69+57T>C 0.686901 0.7659 0.798153 Uncertain 1_1664124_T->C 1 1664124 1664124 T C snp 54.74 1/1 6 2 0 2 1.0 intronic rs2294489 SLC35E2 AU NM_182838 exon1 c.69+162T>C 0.590855 0.6518 Uncertain 1_1666175_C->T 1 1666175 1666175 C T snp 722.77 0/1 99 80 24 56 0.7 exonic rs61777509 SLC35E2 AU nonsynonymous SNV NM_182838 exon5 c.G686A p.R229H 0.4048 0.3259 0.51 T 0.947 N -1.082 T 0.989 D 0.49 D Pathogenic 1_1666251_G->A 1 1666251 1666251 G A snp 1106.77 0/1 99 107 48 59 0.55 exonic rs77655487 SLC35E2 AU nonsynonymous SNV NM_182838 exon5 c.C610T p.R204W 0.3081 0.2362 0.04 T 0.005 P -1.131 T 0.001 T 0.001 T Pathogenic 1_1666338_G->A 1 1666338 1666338 G A snp 1471.77 1/1 99 65 0 65 1.0 intronic rs2072924 SLC35E2 AU NM_182838 exon2 c.2381+64G>A 0.585064 0.6379 Uncertain 1_1666342_A->G 1 1666342 1666342 A G snp 76.77 0/1 99 62 49 13 0.21 intronic rs76084492 SLC35E2 AU NM_182838 exon2 c.2381+68A>G 0.285343 0.2986 Uncertain 1_1666447_-->GTTT 1 1666447 1666447 - GTTT indel 147.87 1/1 15 5 0 5 1.0 intronic rs34869725 SLC35E2 AU NM_182838 exon2 c.2381+173insGTTT 0.308307 0.3115 Uncertain 1_1669734_G->T 1 1669734 1669734 G T snp 919.77 0/1 99 67 28 39 0.58 intronic rs61777512 SLC35E2 AU NM_182838 exon3 c.5866-25G>T 0.288339 0.3016 0.385216 0.4676 0.3120 Uncertain 1_1669748_A->G 1 1669748 1669748 A G snp 694.77 0/1 99 73 42 31 0.42 intronic rs115554296 SLC35E2 AU NM_182838 exon3 c.5866-11A>G 0.304712 0.3403 0.298288 0.3838 0.3505 Uncertain 1_1670570_T->C 1 1670570 1670570 T C snp 118.03 1/1 12 5 0 5 1.0 intronic rs61777514 SLC35E2 AU NM_182838 exon4 c.6603+74T>C Uncertain 1_1670958_C->G 1 1670958 1670958 C G snp 98.03 1/1 12 128 48 80 0.63 exonic rs146637450 SLC35E2 AU synonymous SNV NM_182838 exon2 c.G39C p.L13L 0.7179 0.75 Uncertain 1_1684347_-->CCT 1 1684347 1684347 - CCT indel 3870.73 0/1 99 198 89 109 0.55 exonic rs150880809 NADK AU nonframeshift insertion NM_001198995 exon10 c.1240_1241insAGG p.G414delinsEG 0.2856 0.2179 ID=COSM1320774,COSM1320773;OCCURENCE=2(ovary) Uncertain 1_1684472_C->T 1 1684472 1684472 C T snp 2533.77 0/1 99 207 92 115 0.56 exonic rs7407 NADK AU synonymous SNV NM_001198995 exon10 c.G1116A p.P372P 0.339657 0.3452 0.381194 0.4650 0.3703 Uncertain 1_1685213_C->G 1 1685213 1685213 C G snp 478.77 1/1 36 13 0 13 1.0 intronic rs2072928 NADK AU NM_023018 exon2 c.746+125C>G 0.70607 0.7639 Uncertain 1_1685922_CCCTGGGACCGAAGTCGCCCCA->- 1 1685922 1685943 CCCTGGGACCGAAGTCGCCCCA - indel 4021.73 0/1 99 54 26 28 0.52 intronic rs139385870 NADK AU NM_023018 exon5 c.1640-60_1640-39delCCCTGGGACCGAAGTCGCCCCA 0.334465 0.3462 Uncertain 1_1686040_G->T 1 1686040 1686040 G T snp 2471.77 0/1 99 200 94 106 0.53 exonic rs4751 NADK AU nonsynonymous SNV NM_001198995 exon6 c.C690A p.N230K 0.249401 0.2837 0.317546 0.3564 0.2600 0.45 T 0.033 P -0.956 T 0.562 P 0.229 P Pathogenic 1_1686943_T->C 1 1686943 1686943 T C snp 1205.77 0/1 99 63 20 43 0.68 intronic rs2072929 NADK AU NM_023018 exon6 c.2573+28T>C 0.353235 0.3353 0.419191 0.4328 0.2990 Uncertain 1_1686962_C->T 1 1686962 1686962 C T snp 797.77 0/1 99 40 12 28 0.7 intronic rs2076327 NADK AU NM_023018 exon6 c.2573+47C>T 0.341853 0.3145 0.404506 0.4483 0.2873 Uncertain 1_1687625_T->C 1 1687625 1687625 T C snp 339.77 0/1 99 18 7 11 0.61 intronic rs34306661 NADK AU NM_023018 exon7 c.3354-71T>C 0.284145 0.2847 Uncertain 1_1688192_A->G 1 1688192 1688192 A G snp 3037.77 1/1 99 100 0 100 1.0 intronic rs2281173 NADK AU NM_001198994 exon8 c.3754+96A>G 0.626597 0.6329 Uncertain 1_1688469_C->G 1 1688469 1688469 C G snp 216.84 1/1 18 6 0 6 1.0 intronic rs4648623 NADK AU NM_001198994 exon9 c.4203-76C>G 0.713658 0.7659 Uncertain 1_1689762_T->C 1 1689762 1689762 T C snp 308.77 0/1 99 23 11 12 0.52 intronic rs2235537 NADK AU NM_001198995 exon10 c.5461-41T>C 0.359625 0.4177 0.408092 0.4000 0.3931 Uncertain 1_1690126_-->AC 1 1690126 1690126 - AC indel 1251.73 1/1 81 35 0 35 1.0 intronic rs35357728 NADK AU NM_001198995 exon10 c.5739+45insAC 0.714457 0.8393 Uncertain 1_1690793_G->A 1 1690793 1690793 G A snp 216.77 0/1 99 16 8 8 0.5 intronic rs2235538 NADK AU NM_001198994 exon10 c.6340+111G>A 0.325479 0.3462 Uncertain 1_1696659_A->G 1 1696659 1696659 A G snp 728.77 1/1 54 25 0 25 1.0 intronic rs5021859 NADK AU NM_023018 exon11 c.12324-7A>G 0.741214 0.8304 0.827157 0.8622 0.8054 Uncertain 1_1823524_G->C 1 1823524 1823524 G C snp 649.77 0/1 99 41 19 22 0.54 upstream rs3806168 GNB1 AU,AD 0.170527 0.2183 Uncertain 1_1823922_A->G 1 1823922 1823922 A G snp 5108.77 1/1 99 179 0 179 1.0 intergenic rs6688000 GNB1 AU,AD 0.765176 0.8958 Uncertain 1_1823951_C->T 1 1823951 1823951 C T snp 2066.77 0/1 99 155 76 79 0.51 intergenic GNB1 AU,AD Uncertain 1_1846582_A->G 1 1846582 1846582 A G snp 611.77 1/1 48 18 0 18 1.0 UTR5 rs2748987 CALML6 AU 0.84385 0.8145 Uncertain 1_1846765_G->A 1 1846765 1846765 G A snp 4318.77 1/1 99 167 0 167 1.0 intronic rs2247560 CALML6 AU NM_138705 exon1 c.27+19G>A 0.356629 0.4782 0.365663 0.4072 0.4966 Uncertain 1_1847856_G->T 1 1847856 1847856 G T snp 3327.77 1/1 99 120 0 120 1.0 intronic rs2748986 CALML6 AU NM_138705 exon3 c.1160-23G>T 0.573482 0.6359 0.530354 0.5544 0.6596 Uncertain 1_1847886_C->T 1 1847886 1847886 C T snp 1725.77 0/1 99 173 95 78 0.45 exonic rs75687095 CALML6 AU nonsynonymous SNV NM_138705 exon3 c.C85T p.R29C 0.00938498 0.0427 0.000624 0.0037 0.0510 0 D 1 N -1.076 T 0.993 D 0.446 D Pathogenic 1_1848109_G->C 1 1848109 1848109 G C snp 4400.77 1/1 99 148 1 147 0.99 intronic rs2803296 CALML6 AU NM_138705 exon3 c.1335+55G>C 0.585463 0.6359 Uncertain 1_1849529_A->G 1 1849529 1849529 A G snp 2417.77 1/1 99 75 0 75 1.0 exonic rs28640257 TMEM52 AU nonsynonymous SNV NM_178545 exon5 c.T422C p.M141T 0.352037 0.4623 0.370598 0.4434 0.4600 0.52 T 0.0 P -0.913 T 0.01 T 0.008 T Pathogenic 1_1850428_A->G 1 1850428 1850428 A G snp 1138.77 1/1 81 43 0 43 1.0 intronic rs2295363 TMEM52 AU NM_178545 exon4 c.1163-55A>G 0.594249 0.6359 Uncertain 1_1850628_AGCGGCAGG->- 1 1850628 1850636 AGCGGCAGG - indel 1423.73 1/1 42 31 0 31 1.0 exonic rs575852588 TMEM52 AU nonframeshift deletion NM_178545 exon1 c.69_77del p.23_26del 0.359026 0.4792 0.278682 0.0120 0.0181 ID=COSM1167507;OCCURENCE=1(NS),1(haematopoietic_and_lymphoid_tissue) Uncertain 1_1853615_-->CTGA 1 1853615 1853615 - CTGA indel 865.73 1/1 39 13 0 13 1.0 UTR3 rs113294876 CFAP74 AU 0.9998 1 Uncertain 1_1854109_A->G 1 1854109 1854109 A G snp 3647.77 1/1 99 143 0 143 1.0 exonic rs2803348 CFAP74 AU synonymous SNV NM_001304360 exon38 c.T4737C p.S1579S 0.598842 0.6359 0.531908 0.5677 0.6456 Uncertain 1_1854321_A->G 1 1854321 1854321 A G snp 441.77 1/1 33 13 0 13 1.0 intronic rs2250833 CFAP74 AU NM_001304360 exon3 c.698-102A>G 0.839457 0.8125 Uncertain 1_1855450_A->G 1 1855450 1855450 A G snp 530.77 1/1 39 17 0 17 1.0 intronic rs28423370 CFAP74 AU NM_001304360 exon5 c.1643+82A>G 0.856629 0.8145 Uncertain 1_1858309_T->C 1 1858309 1858309 T C snp 8155.77 1/1 99 250 1 249 1.0 intronic rs941530 CFAP74 AU NM_001304360 exon11 c.4607-23T>C 0.613019 0.6359 0.5853 0.6584 Uncertain 1_1859296_T->C 1 1859296 1859296 T C snp 2009.77 1/1 99 52 0 52 1.0 intronic rs2748984 CFAP74 AU NM_001304360 exon12 c.5460+111T>C 0.355631 0.4772 Uncertain 1_1860087_C->T 1 1860087 1860087 C T snp 1096.77 1/1 81 30 0 30 1.0 intronic rs2748983 CFAP74 AU NM_001304360 exon13 c.6497-135C>T 0.598043 0.6349 Uncertain 1_1861582_C->T 1 1861582 1861582 C T snp 3443.77 1/1 99 132 0 132 1.0 exonic rs2803295 CFAP74 AU nonsynonymous SNV NM_001304360 exon26 c.G3205A p.G1069R 0.355831 0.4752 0.3777 0.5 0.51 T 1.0 P -0.921 T Pathogenic 1_1870210_G->A 1 1870210 1870210 G A snp 1557.77 1/1 99 45 0 45 1.0 intronic rs2803323 CFAP74 AU NM_001304360 exon15 c.16568-83G>A 0.834665 0.8115 Uncertain 1_1871979_G->A 1 1871979 1871979 G A snp 1177.77 1/1 87 39 0 39 1.0 intronic rs2748982 CFAP74 AU NM_001304360 exon17 c.18117+137G>A 0.59405 0.6379 Uncertain 1_1873453_G->A 1 1873453 1873453 G A snp 791.77 1/1 57 31 0 31 1.0 intronic rs2748981 CFAP74 AU NM_001304360 exon18 c.19741-13G>A 0.592452 0.6379 0.5118 0.6802 Uncertain 1_1873514_A->G 1 1873514 1873514 A G snp 1610.77 1/1 99 61 0 61 1.0 exonic rs2803326 CFAP74 AU synonymous SNV NM_001304360 exon22 c.T2568C p.Y856Y 0.592452 0.6379 0.5740 0.7172 Uncertain 1_1873525_T->C 1 1873525 1873525 T C snp 1755.77 1/1 99 65 0 65 1.0 exonic rs2803327 CFAP74 AU nonsynonymous SNV NM_001304360 exon22 c.A2557G p.K853E 0.592452 0.6379 0.5733 0.7172 1 T 0.998 P -0.930 T Pathogenic 1_1873697_G->A 1 1873697 1873697 G A snp 977.77 1/1 72 35 0 35 1.0 intronic rs2748980 CFAP74 AU NM_001304360 exon18 c.19870+102G>A 0.591254 0.6379 Uncertain 1_1873699_G->C 1 1873699 1873699 G C snp 976.77 1/1 72 35 0 35 1.0 intronic rs2748979 CFAP74 AU NM_001304360 exon18 c.19870+104G>C 0.590655 0.6379 Uncertain 1_1875655_C->T 1 1875655 1875655 C T snp 56.74 1/1 6 2 0 2 1.0 intronic rs2803335 CFAP74 AU NM_001304360 exon19 c.22044-114C>T 0.367812 0.4782 Uncertain 1_1875858_C->G 1 1875858 1875858 C G snp 4543.77 1/1 99 156 0 156 1.0 exonic rs2803336 CFAP74 AU nonsynonymous SNV NM_001304360 exon21 c.G2398C p.V800L 0.384984 0.4792 0.3894 0.495 0.7 T 1.0 P -0.977 T Pathogenic 1_1875859_A->G 1 1875859 1875859 A G snp 4608.77 1/1 99 158 0 158 1.0 exonic rs2803337 CFAP74 AU synonymous SNV NM_001304360 exon21 c.T2397C p.D799D 0.397764 0.4792 0.3910 0.495 Uncertain 1_1876114_C->T 1 1876114 1876114 C T snp 54.74 1/1 6 2 0 2 1.0 intronic rs2803338 CFAP74 AU NM_001304360 exon19 c.22166+223C>T 0.383586 0.4782 Uncertain 1_1878071_C->T 1 1878071 1878071 C T snp 296.78 1/1 24 8 0 8 1.0 intronic rs2803340 CFAP74 AU NM_001304360 exon20 c.24153+193C>T 0.383387 0.4782 0.395094 Uncertain 1_1878628_C->T 1 1878628 1878628 C T snp 642.77 1/1 48 16 0 16 1.0 intronic rs2803341 CFAP74 AU NM_001304360 exon21 c.24768+135C>T 0.386382 0.4782 Uncertain 1_1886501_C->A 1 1886501 1886501 C A snp 94.77 0/1 99 14 10 4 0.29 UTR3 rs2748976 CFAP74 AU Uncertain 1_1886501_-->GGCTCACACCGGAAGTGA 1 1886501 1886501 - GGCTCACACCGGAAGTGA indel 945.73 1/1 42 14 0 14 1.0 UTR3 CFAP74 AU Uncertain 1_1886519_C->A 1 1886519 1886519 C A snp 998.77 1/1 75 33 1 32 0.97 UTR3 rs2748975 CFAP74 AU 0.607428 0.6339 Uncertain 1_1887019_A->G 1 1887019 1887019 A G snp 6045.77 1/1 99 218 1 217 1.0 exonic rs28548017 CFAP74 AU stoploss NM_001080484 exon18 c.T2287C p.X763Q 0.797724 0.8591 0.808489 0.8168 0.8514 0.0 P Uncertain 1_1888369_A->G 1 1888369 1888369 A G snp 168.9 1/1 15 7 0 7 1.0 intronic rs2803285 CFAP74 AU NM_001304360 exon23 c.34498+146A>G 0.867212 0.8601 Uncertain 1_1891263_A->T 1 1891263 1891263 A T snp 1513.77 1/1 99 51 0 51 1.0 intronic rs2474454 CFAP74 AU NM_001304360 exon25 c.37677-139A>T 0.167532 0.3313 Uncertain 1_1895177_C->T 1 1895177 1895177 C T snp 469.77 0/1 99 43 26 17 0.4 intronic rs7523728 CFAP74 AU NM_001304360 exon26 c.41462-10C>T 0.166534 0.1756 0.215449 0.2218 0.1800 Uncertain 1_1896223_C->T 1 1896223 1896223 C T snp 31.77 0/1 60 6 4 2 0.33 intronic rs13303202 CFAP74 AU NM_001304360 exon27 c.42601-103C>T 0.189696 0.2817 Uncertain 1_1896440_G->A 1 1896440 1896440 G A snp 697.77 0/1 99 78 48 30 0.38 exonic rs16824585 CFAP74 AU synonymous SNV NM_001080484 exon13 c.C1462T p.L488L 0.216653 0.2718 0.240619 0.2353 0.2603 Uncertain 1_1896553_C->T 1 1896553 1896553 C T snp 351.77 0/1 99 53 34 19 0.36 intronic rs28625839 CFAP74 AU NM_001304360 exon27 c.42775+53C>T 0.166134 0.1786 Uncertain 1_1897753_C->G 1 1897753 1897753 C G snp 1543.77 0/1 99 133 67 66 0.5 intronic rs4648600 CFAP74 AU NM_001304360 exon28 c.44084-56C>G 0.187899 0.2768 Uncertain 1_1900025_G->- 1 1900025 1900025 G - indel 205.73 0/1 99 10 4 6 0.6 intronic rs56985589 CFAP74 AU NM_001304360 exon29 c.46348-48delG 0.202276 0.3323 0.225918 0.2390 0.3319 Uncertain 1_1900106_-->CTC 1 1900106 1900106 - CTC indel 694.73 0/1 99 39 25 14 0.36 exonic rs145742571 CFAP74 AU nonframeshift insertion NM_001080484 exon11 c.1212_1213insGAG p.K405delinsEK 0.199081 0.3284 0.220822 0.2346 0.3311 Uncertain 1_1900232_T->C 1 1900232 1900232 T C snp 755.77 0/1 99 83 49 34 0.41 exonic rs16824588 CFAP74 AU nonsynonymous SNV NM_001080484 exon11 c.A1087G p.I363V 0.38778 0.3125 0.435143 0.4226 0.3195 1 T 0.000 P -0.921 T 0.001 T 0.001 T Pathogenic 1_1900332_A->G 1 1900332 1900332 A G snp 266.77 0/1 99 37 23 14 0.38 intronic rs55709963 CFAP74 AU NM_001304360 exon29 c.46547+60A>G 0.174521 0.2728 Uncertain 1_1900339_A->G 1 1900339 1900339 A G snp 205.77 0/1 99 31 20 11 0.35 intronic rs56126097 CFAP74 AU NM_001304360 exon29 c.46547+67A>G 0.180511 0.2718 Uncertain 1_1903303_C->T 1 1903303 1903303 C T snp 290.77 0/1 84 13 4 9 0.69 intronic rs4648603 CFAP74 AU NM_001304360 exon31 c.49693-115C>T 0.49381 0.4107 Uncertain 1_1916890_C->T 1 1916890 1916890 C T snp 1185.77 0/1 99 84 36 48 0.57 exonic rs3795280 CFAP74 AU synonymous SNV NM_001080484 exon6 c.G435A p.L145L 0.438498 0.4335 0.410408 0.3733 0.4395 Uncertain 1_1917058_A->G 1 1917058 1917058 A G snp 200.8 0/1 21 8 1 7 0.88 intronic rs34331632 CFAP74 AU NM_001304360 exon34 c.63204+129A>G 0.422324 0.4345 Uncertain 1_1918488_A->G 1 1918488 1918488 A G snp 1812.77 0/1 99 179 95 84 0.47 intronic rs4350140 CFAP74 AU NM_001304360 exon35 c.64749+14A>G 0.630591 0.5278 0.640385 0.5607 0.5339 Uncertain 1_1918535_A->T 1 1918535 1918535 A T snp 1480.77 0/1 99 141 78 63 0.45 intronic rs4535948 CFAP74 AU NM_001304360 exon35 c.64749+61A>T 0.273363 0.3214 Uncertain 1_1918584_C->T 1 1918584 1918584 C T snp 733.77 0/1 99 82 53 29 0.35 intronic rs4603072 CFAP74 AU NM_001304360 exon35 c.64749+110C>T 0.323482 0.4236 Uncertain 1_1918595_G->A 1 1918595 1918595 G A snp 573.77 0/1 99 62 42 20 0.32 intronic rs4466593 CFAP74 AU NM_001304360 exon35 c.64749+121G>A 0.272764 0.3204 Uncertain 1_1922303_C->T 1 1922303 1922303 C T snp 1251.77 0/1 99 152 94 58 0.38 intronic rs13303195 CFAP74 AU NM_001304360 exon38 c.68603-25C>T 0.649561 0.6032 0.642404 0.5785 0.6153 Uncertain 1_1956362_G->A 1 1956362 1956362 G A snp 5854.77 1/1 99 222 0 222 1.0 intronic rs2376805 GABRD AD NM_000815 exon2 c.5518-18G>A 0.775559 0.7381 0.819699 0.8044 0.7174 Uncertain 1_1957037_T->C 1 1957037 1957037 T C snp 3327.77 0/1 99 250 131 119 0.48 exonic rs2229110 GABRD AD synonymous SNV NM_000815 exon4 c.T330C p.G110G 0.561302 0.3462 0.684300 0.5934 0.3148 Uncertain 1_1957299_C->T 1 1957299 1957299 C T snp 35.77 0/1 64 6 4 2 0.33 intronic rs3820007 GABRD AD NM_000815 exon4 c.6315+122C>T 0.291334 0.1617 Uncertain 1_1958989_G->A 1 1958989 1958989 G A snp 1188.77 0/1 99 121 70 51 0.42 intronic rs181895553 GABRD AD NM_000815 exon5 c.8153-26G>A 0.000399361 0.002 0.0008 0.0098 Uncertain 1_1959261_A->G 1 1959261 1959261 A G snp 670.77 1/1 51 17 0 17 1.0 intronic rs28574670 GABRD AD NM_000815 exon5 c.8236+163A>G 0.856629 0.8155 Uncertain 1_1960674_C->T 1 1960674 1960674 C T snp 1623.77 0/1 99 144 77 67 0.47 exonic rs28408173 GABRD AD synonymous SNV NM_000815 exon7 c.C816T p.S272S 0.198283 0.4415 0.097757 0.2873 0.5830 Uncertain 1_1960926_T->C 1 1960926 1960926 T C snp 950.77 1/1 72 26 0 26 1.0 intronic rs28581504 GABRD AD NM_000815 exon8 c.10127-63T>C 0.823283 0.8155 Uncertain 1_1961408_C->T 1 1961408 1961408 C T snp 904.77 0/1 99 80 40 40 0.5 intronic rs28431879 GABRD AD NM_000815 exon9 c.10559-13C>T 0.19988 0.4683 0.096219 0.1834 0.4762 Uncertain 1_1986734_G->T 1 1986734 1986734 G T snp 507.77 0/1 99 33 16 17 0.52 intronic rs59687002 PRKCZ AU NM_002744 exon2 c.4810-145G>T 0.0479233 0.2133 Uncertain 1_1986737_A->G 1 1986737 1986737 A G snp 589.77 0/1 99 33 12 21 0.64 intronic rs58725160 PRKCZ AU NM_002744 exon2 c.4810-142A>G 0.141573 0.2242 Uncertain 1_1987803_G->A 1 1987803 1987803 G A snp 518.77 1/1 39 13 0 13 1.0 intronic rs2803309 PRKCZ AU NM_002744 exon3 c.5853-119G>A 0.556709 0.8333 Uncertain 1_1987889_C->T 1 1987889 1987889 C T snp 861.77 0/1 99 61 25 36 0.59 intronic rs70937051 PRKCZ AU NM_002744 exon3 c.5853-33C>T 0.00419329 0.0149 0.000231 0.0040 0.0267 Uncertain 1_1987993_T->C 1 1987993 1987993 T C snp 1750.77 1/1 99 66 0 66 1.0 exonic rs12184 PRKCZ AU synonymous SNV NM_002744 exon3 c.T264C p.D88D 0.669928 0.9454 0.504690 0.4623 0.9513 Uncertain 1_1988044_G->C 1 1988044 1988044 G C snp 691.77 0/1 99 53 21 32 0.6 intronic rs3820005 PRKCZ AU NM_002744 exon3 c.5943+32G>C 0.101238 0.123 0.107566 0.1348 0.1720 Uncertain 1_1991014_A->G 1 1991014 1991014 A G snp 2608.77 0/1 99 248 131 117 0.47 exonic rs1878745 PRKCZ AU synonymous SNV NM_002744 exon4 c.A318G p.P106P 0.23762 0.4752 0.153083 0.2079 0.4772 Uncertain 1_1991137_G->A 1 1991137 1991137 G A snp 1440.77 0/1 99 138 79 59 0.43 intronic rs2292859 PRKCZ AU NM_002744 exon4 c.8961+107G>A 0.0499201 0.2163 Uncertain 1_1991162_G->A 1 1991162 1991162 G A snp 1513.77 0/1 99 94 41 53 0.56 intronic rs1878747 PRKCZ AU NM_002744 exon4 c.8961+132G>A 0.425719 0.4742 Uncertain 1_1991173_A->G 1 1991173 1991173 A G snp 1292.77 0/1 99 74 30 44 0.59 intronic rs2247923 PRKCZ AU NM_002744 exon4 c.8961+143A>G 0.634385 0.8085 Uncertain 1_1991241_C->G 1 1991241 1991241 C G snp 151.77 0/1 99 9 4 5 0.56 intronic rs1105100 PRKCZ AU NM_002744 exon4 c.8961+211C>G 0.217053 0.3899 Uncertain 1_2005740_T->C 1 2005740 2005740 T C snp 830.77 1/1 60 32 0 32 1.0 intronic rs2459986 PRKCZ AU NM_001242874 exon1 c.22+26T>C 0.932508 0.999 0.9074 1 Uncertain 1_2103506_C->G 1 2103506 2103506 C G snp 2961.77 0/1 99 222 101 121 0.55 exonic rs2280272 PRKCZ AU synonymous SNV NM_001033581 exon9 c.C525G p.A175A 0.0161741 0.0744 0.000692 0.0079 0.0860 Uncertain 1_2106438_G->A 1 2106438 2106438 G A snp 182.77 0/1 99 14 8 6 0.43 intronic rs2292857 PRKCZ AU NM_002744 exon15 c.124203+166G>A 0.0161741 0.0744 Uncertain 1_2106596_A->G 1 2106596 2106596 A G snp 936.77 0/1 99 73 37 36 0.49 intronic rs2292858 PRKCZ AU NM_002744 exon16 c.124593-66A>G 0.0161741 0.0744 Uncertain 1_2106840_T->C 1 2106840 2106840 T C snp 587.77 1/1 45 15 0 15 1.0 intronic rs12135175 PRKCZ AU NM_002744 exon16 c.124683+88T>C 1 1 Uncertain 1_2106896_T->C 1 2106896 2106896 T C snp 141.03 1/1 12 4 0 4 1.0 intronic rs12135178 PRKCZ AU NM_002744 exon16 c.124683+144T>C 1 1 Uncertain 1_2118539_T->C 1 2118539 2118539 T C snp 1309.77 1/1 96 46 0 46 1.0 UTR5 rs2503699 C1orf86 AU 0.857228 0.9335 0.749452 Uncertain 1_2121118_C->T 1 2121118 2121118 C T snp 1468.77 0/1 99 139 74 65 0.47 UTR3 rs2503701 C1orf86 AU 0.702077 0.8641 0.598107 0.6729 0.8586 Uncertain 1_2126139_C->G 1 2126139 2126139 C G snp 50.74 1/1 6 2 0 2 1.0 exonic rs6662296 C1orf86 AU nonsynonymous SNV NM_001256945 exon1 c.G50C p.R17P 1 . 0 D 0.000 P -0.969 T 0.0 T 0.0 T Pathogenic 1_2130262_C->G 1 2130262 2130262 C G snp 2150.77 0/1 99 164 81 83 0.51 exonic rs144802031 C1orf86 AU nonsynonymous SNV NM_001282670 exon4 c.G166C p.G56R 0.0167732 0.0754 0.0047 0.1111 0 D 1.000 N -1.049 T Pathogenic 1_2144982_G->T 1 2144982 2144982 G T snp 1722.77 1/1 99 64 0 64 1.0 upstream rs2480714 C1orf86 AU 0.883187 0.9702 0.9231 1 0 D -1.036 T Uncertain 1_2234251_A->G 1 2234251 2234251 A G snp 298.78 1/1 24 9 0 9 1.0 intronic rs1496555 SKI AD NM_003036 exon2 c.74211-165A>G 0.866813 0.8393 Uncertain 1_2234903_C->T 1 2234903 2234903 C T snp 1141.77 0/1 99 77 31 46 0.6 intronic rs2256178 SKI AD NM_003036 exon3 c.74634+64C>T 0.269169 0.3026 Uncertain 1_2235662_G->A 1 2235662 2235662 G A snp 426.77 0/1 99 46 26 20 0.43 intronic rs2645073 SKI AD NM_003036 exon5 c.75526-69G>A 0.290535 0.2937 Uncertain 1_2235672_C->T 1 2235672 2235672 C T snp 375.77 0/1 99 49 29 20 0.41 intronic rs2843159 SKI AD NM_003036 exon5 c.75526-59C>T 0.34984 0.2946 Uncertain 1_2268040_T->A 1 2268040 2268040 T A snp 1079.77 0/1 99 88 42 46 0.52 intronic rs78290236 MORN1 AU NM_024848 exon3 c.15166+53T>A 0.0161741 0.0258 0.008760 Uncertain 1_2286947_A->G 1 2286947 2286947 A G snp 2487.77 1/1 99 95 0 95 1.0 intronic rs1039100 MORN1 AU NM_001301060 exon1 c.17+44A>G 0.882987 0.8383 0.8443 0.8416 Uncertain 1_2303512_G->A 1 2303512 2303512 G A snp 324.77 0/1 99 23 9 14 0.61 intronic rs10910061 MORN1 AU NM_024848 exon7 c.51098-407G>A 0.101438 0.1002 Uncertain 1_2306152_C->T 1 2306152 2306152 C T snp 36.77 0/1 65 6 4 2 0.33 intronic rs12031614 MORN1 AU NM_024848 exon8 c.53175+156C>T 0.394569 0.4901 Uncertain 1_2317069_A->C 1 2317069 2317069 A C snp 215.77 0/1 99 15 8 7 0.47 intronic rs16825089 MORN1 AU NM_024848 exon10 c.64424-176A>C 0.256989 0.4583 Uncertain 1_2317494_C->G 1 2317494 2317494 C G snp 231.77 0/1 99 18 10 8 0.44 intronic rs16825090 MORN1 AU NM_024848 exon10 c.64515+158C>G 0.0672923 0.1012 Uncertain 1_2328714_A->G 1 2328714 2328714 A G snp 885.77 1/1 32 32 1 31 0.97 intronic rs2645081 RER1 AU NM_007033 exon3 c.1430+55A>G 0.805911 0.9048 Uncertain 1_2333944_-->C 1 2333944 2333944 - C indel 194.8 1/1 18 7 0 7 1.0 intronic rs70954600 RER1 AU NM_007033 exon6 c.6552+163insC 0.778754 0.8304 Uncertain 1_2337032_C->T 1 2337032 2337032 C T snp 1238.77 1/1 90 39 0 39 1.0 UTR3 rs1129171 PEX10 AR 0.30651 0.4544 Uncertain 1_2338569_T->C 1 2338569 2338569 T C snp 162.9 1/1 15 5 0 5 1.0 intronic rs2494427 PEX10 AR NM_153818 exon3 c.1190+175T>C 0.770767 0.8304 Uncertain 1_2340200_T->C 1 2340200 2340200 T C snp 4183.77 1/1 99 162 1 161 0.99 exonic rs2494598 PEX10 AR synonymous SNV NM_153818 exon3 c.A291G p.T97T 0.698882 0.7282 0.743811 0.7714 0.7265 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000117902.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 1_2399119_A->G 1 2399119 2399119 A G snp 1634.77 1/1 99 67 0 67 1.0 intronic rs2494632 PLCH2 AU NM_001303012 exon1 c.43+18A>G 0.720048 0.869 0.6 0 Uncertain 1_2399149_A->G 1 2399149 2399149 A G snp 1413.77 1/1 99 58 0 58 1.0 intronic rs2494631 PLCH2 AU NM_001303012 exon1 c.43+48A>G 0.698682 0.869 0.5 0.5 Uncertain 1_2399225_C->T 1 2399225 2399225 C T snp 171.77 0/1 99 24 14 10 0.42 intronic PLCH2 AU NM_001303012 exon1 c.43+124C>T Uncertain 1_2409892_A->G 1 2409892 2409892 A G snp 661.77 0/1 99 79 50 29 0.37 intronic rs12727342 PLCH2 AU NM_014638 exon2 c.1887-22A>G 0.707069 0.7897 0.660780 0.6534 0.8065 Uncertain 1_2411451_A->G 1 2411451 2411451 A G snp 1206.77 0/1 99 106 56 50 0.47 intronic rs10797428 PLCH2 AU NM_014638 exon3 c.3389+35A>G 0.65655 0.7758 0.620752 0.6363 0.7875 Uncertain 1_2418625_C->T 1 2418625 2418625 C T snp 2304.77 0/1 99 193 97 96 0.5 exonic rs7512269 PLCH2 AU synonymous SNV NM_001303012 exon7 c.C843T p.Y281Y 0.119808 0.1637 0.098776 0.1877 0.2674 Uncertain 1_2418935_C->T 1 2418935 2418935 C T snp 116.77 0/1 99 9 4 5 0.56 intronic rs10910082 PLCH2 AU NM_014638 exon8 c.11009-101C>T 0.625998 0.7698 Uncertain 1_2420590_T->C 1 2420590 2420590 T C snp 1385.77 1/1 99 39 0 39 1.0 intronic rs10752744 PLCH2 AU NM_014638 exon9 c.12618-55T>C 0.86881 0.9871 Uncertain 1_2420913_A->G 1 2420913 2420913 A G snp 539.77 0/1 99 26 9 17 0.65 intronic rs6668720 PLCH2 AU NM_014638 exon9 c.12790+96A>G 0.673922 0.7907 Uncertain 1_2422614_G->A 1 2422614 2422614 G A snp 1516.77 1/1 99 58 0 58 1.0 intronic rs2477699 PLCH2 AU NM_014638 exon11 c.14603-16G>A 0.751997 0.9107 0.725479 0.7480 0.9139 Uncertain 1_2426766_A->G 1 2426766 2426766 A G snp 383.77 1/1 30 14 0 14 1.0 intronic rs3001347 PLCH2 AU NM_014638 exon13 c.18899-160A>G 0.382388 0.4742 Uncertain 1_2428874_T->C 1 2428874 2428874 T C snp 2251.77 1/1 99 75 0 75 1.0 intronic rs2477706 PLCH2 AU NM_014638 exon16 c.20913-66T>C 0.847045 0.9563 Uncertain 1_2430617_C->T 1 2430617 2430617 C T snp 5780.77 1/1 99 221 0 221 1.0 exonic rs2296442 PLCH2 AU synonymous SNV NM_001303012 exon19 c.C2448T p.I816I 0.366613 0.4812 0.386639 0.4352 0.5221 1.0 P -0.928 T Likely benign 1_2433900_C->T 1 2433900 2433900 C T snp 2248.77 1/1 99 89 0 89 1.0 exonic rs12736998 PLCH2 AU nonsynonymous SNV NM_001303012 exon21 c.C2930T p.P977L 0.379792 0.4851 0.4187 0.5202 0.31 T 0.0 P -0.925 T 0.007 T 0.003 T Pathogenic 1_2434075_A->G 1 2434075 2434075 A G snp 540.77 0/1 99 54 34 20 0.37 exonic rs761029213 PLCH2 AU synonymous SNV NM_001303012 exon21 c.A3105G p.S1035S 0.0003 0 Uncertain 1_2442725_C->A 1 2442725 2442725 C A snp 1011.77 0/1 99 67 28 39 0.58 intronic rs75446445 PANK4 AU NM_018216 exon5 c.2491-51C>A 0.0145767 0.0377 0.000583 Uncertain 1_2444414_G->A 1 2444414 2444414 G A snp 924.77 0/1 99 87 47 40 0.46 exonic rs7535528 PANK4 AU nonsynonymous SNV NM_018216 exon13 c.C1664T p.A555V 0.225639 0.3046 0.272112 0.3141 0.3693 0.02 T 0.0 P -0.867 T 0.769 T 0.119 P Pathogenic 1_2452569_T->C 1 2452569 2452569 T C snp 1744.77 1/1 99 55 0 55 1.0 exonic rs2985862 PANK4 AU synonymous SNV NM_018216 exon3 c.A417G p.K139K 0.846046 0.9563 0.795248 0.7806 0.9625 Uncertain 1_2518186_A->G 1 2518186 2518186 A G snp 214.84 1/1 18 6 0 6 1.0 upstream rs10752746 FAM213B AU 1 1 0.9979 1 Uncertain 1_2522392_G->A 1 2522392 2522392 G A snp 224.77 0/1 99 17 9 8 0.47 UTR3 rs2296443 FAM213B AU 0.196286 0.2927 0.240744 0.3678 0.4318 Uncertain 1_2527678_A->G 1 2527678 2527678 A G snp 1759.77 1/1 99 53 0 53 1.0 intronic rs2260976 MMEL1 AU NM_033467 exon10 c.5118+132A>G 0.502196 0.4712 Uncertain 1_2528133_T->C 1 2528133 2528133 T C snp 5692.77 1/1 99 214 0 214 1.0 splicing rs2843401 MMEL1 AU NM_033467 exon11 c.5700+5T>C 0.501597 0.4722 0.593880 0.6122 0.5136 Pathogenic 1_2530341_-->G 1 2530341 2530341 - G indel 835.73 1/1 63 21 0 21 1.0 intronic rs34705971 MMEL1 AU NM_033467 exon13 c.7801+112insG 0.504193 0.4722 Uncertain 1_2560735_A->G 1 2560735 2560735 A G snp 888.77 1/1 66 31 0 31 1.0 intronic rs4648657 MMEL1 AU NM_033467 exon23 c.38341-34A>G 0.517772 0.4702 0.652379 0.5842 0.5198 Uncertain 1_2560882_G->A 1 2560882 2560882 G A snp 1746.77 1/1 99 65 1 64 0.98 exonic rs4648658 MMEL1 AU synonymous SNV NM_033467 exon2 c.C42T p.A14A 0.461462 0.4633 0.590494 0.5836 0.5 Uncertain 1_2560903_T->G 1 2560903 2560903 T G snp 1491.77 1/1 99 55 0 55 1.0 exonic rs4648659 MMEL1 AU synonymous SNV NM_033467 exon2 c.A21C p.P7P 0.515775 0.4683 0.640413 0.6089 0.5 Uncertain 1_2573199_A->G 1 2573199 2573199 A G snp 2696.77 1/1 99 98 0 98 1.0 exonic rs4648662 TTC34 AU synonymous SNV NM_001242672 exon7 c.T1309C p.L437L 0.934704 0.9931 0.9058 1 Uncertain 1_2700117_C->G 1 2700117 2700117 C G snp 1689.77 1/1 99 58 0 58 1.0 intronic rs4648502 TTC34 AU NM_001242672 exon4 c.127347-36C>G 0.285343 0.3552 0.4053 0.3421 Uncertain 1_2938265_C->T 1 2938265 2938265 C T snp 340.77 0/1 99 48 33 15 0.31 exonic rs4576609 ACTRT2 AU synonymous SNV NM_080431 exon1 c.C15T p.H5H 0.201677 0.3978 0.166154 0.1941 0.4222 Uncertain 1_2938408_AGA->- 1 2938408 2938410 AGA - indel 3927.73 0/1 99 186 102 84 0.45 exonic rs4013154 ACTRT2 AU nonframeshift deletion NM_080431 exon1 c.158_160del p.53_54del 0.11242 0.1925 0.124900 0.1552 0.2243 Uncertain 1_2938697_T->G 1 2938697 2938697 T G snp 2645.77 0/1 99 226 117 109 0.48 exonic rs3795262 ACTRT2 AU synonymous SNV NM_080431 exon1 c.T447G p.S149S 0.209065 0.3958 0.175150 0.1923 0.4170 Uncertain 1_2984087_C->A 1 2984087 2984087 C A snp 2598.77 0/1 99 207 92 115 0.56 ncRNA_exonic rs2297829 LINC00982 AU 0.313698 0.4137 0.3914 0.4021 Uncertain 1_2985885_C->G 1 2985885 2985885 C G snp 647.77 1/1 48 21 0 21 1.0 intronic rs7413494 PRDM16 AD NM_199454 exon1 c.37+25C>G 0.360224 0.5496 0.304513 0.4600 0.5985 Uncertain 1_3044434_G->A 1 3044434 3044434 G A snp 269.77 0/1 99 15 5 10 0.67 intronic rs72846807 PRDM16 AD NM_199454 exon2 c.116865-58254G>A 0.135783 0.2302 Uncertain 1_3301721_C->T 1 3301721 3301721 C T snp 2028.77 1/1 99 63 0 63 1.0 exonic rs2282198 PRDM16 AD synonymous SNV NM_022114 exon4 c.C444T p.S148S 0.340455 0.622 0.204889 0.3295 0.5966 Uncertain 1_3311212_C->G 1 3311212 3311212 C G snp 403.77 1/1 30 18 0 18 1.0 intronic rs2493253 PRDM16 AD NM_199454 exon5 c.327231-1842C>G 0.758986 0.6349 Uncertain 1_3311261_C->T 1 3311261 3311261 C T snp 139.03 1/1 12 4 0 4 1.0 intronic rs6702992 PRDM16 AD NM_199454 exon5 c.327231-1793C>T 0.61262 0.6339 Uncertain 1_3311270_A->G 1 3311270 3311270 A G snp 44.77 0/1 33 3 1 2 0.67 intronic rs2493251 PRDM16 AD NM_199454 exon5 c.327231-1784A>G 0.120607 0.1448 Uncertain 1_3312914_T->G 1 3312914 3312914 T G snp 6721.77 1/1 99 244 0 244 1.0 intronic rs871822 PRDM16 AD NM_199454 exon5 c.327231-140T>G 0.460264 0.6319 0.4336 0.6582 Uncertain 1_3328358_T->C 1 3328358 3328358 T C snp 4773.77 1/1 99 186 0 186 1.0 exonic rs870124 PRDM16 AD nonsynonymous SNV NM_022114 exon9 c.T1597C p.S533P 0.945088 0.998 0.877738 0.8897 0.9998 0.53 T 0.091 P -0.955 T 0.0 T 0.0 T Pathogenic 1_3350134_T->C 1 3350134 3350134 T C snp 533.77 0/1 99 37 18 19 0.51 intronic rs10752734 PRDM16 AD NM_022114 exon17 c.364417-106T>C 0.466454 0.5159 Uncertain 1_3383593_G->T 1 3383593 3383593 G T snp 122.77 0/1 69 8 3 5 0.63 intronic rs3893316 ARHGEF16 AU NM_014448 exon4 c.4083-138G>T 0.697684 0.6647 Uncertain 1_3383665_G->A 1 3383665 3383665 G A snp 1241.77 0/1 99 72 23 49 0.68 intronic rs7550948 ARHGEF16 AU NM_014448 exon4 c.4083-66G>A 0.681909 0.6657 Uncertain 1_3383898_A->G 1 3383898 3383898 A G snp 1027.77 0/1 99 76 37 39 0.51 exonic rs6424078 ARHGEF16 AU synonymous SNV NM_014448 exon4 c.A801G p.P267P 0.860024 0.8026 0.897413 0.9026 0.8070 Uncertain 1_3385250_C->A 1 3385250 3385250 C A snp 587.77 1/1 45 19 0 19 1.0 intronic rs1417897 ARHGEF16 AU NM_014448 exon5 c.5795-193C>A 0.515375 0.7103 Uncertain 1_3385330_T->C 1 3385330 3385330 T C snp 1978.77 1/1 99 70 0 70 1.0 intronic rs2493249 ARHGEF16 AU NM_014448 exon5 c.5795-113T>C 0.969649 1 Uncertain 1_3385952_C->T 1 3385952 3385952 C T snp 2344.77 0/1 99 163 72 91 0.56 intronic rs118157011 ARHGEF16 AU NM_014448 exon6 c.6348-44C>T 0.00279553 0.0139 0.0018 0.0232 Uncertain 1_3389727_C->T 1 3389727 3389727 C T snp 5801.77 1/1 99 224 1 223 1.0 exonic rs2185639 ARHGEF16 AU nonsynonymous SNV NM_014448 exon7 c.C1108T p.H370Y 0.684505 0.6746 0.735353 0.8050 0.6607 0.71 T 1.000 P -0.940 T 0.011 T 0.038 T Pathogenic 1_3390238_T->A 1 3390238 3390238 T A snp 2294.77 1/1 99 86 0 86 1.0 intronic rs2493323 ARHGEF16 AU NM_014448 exon8 c.10438+152T>A 0.971446 1 0.9923 1 Uncertain 1_3394456_T->C 1 3394456 3394456 T C snp 2450.77 1/1 99 85 0 85 1.0 exonic rs4638054 ARHGEF16 AU synonymous SNV NM_014448 exon11 c.T1491C p.S497S 0.970647 1 0.968445 0.9903 1 Uncertain 1_3394640_A->G 1 3394640 3394640 A G snp 5092.77 1/1 99 194 0 194 1.0 intronic rs4422946 ARHGEF16 AU NM_014448 exon11 c.14942+50A>G 0.89976 0.87 0.912456 0.9338 0.8724 Uncertain 1_3394674_T->C 1 3394674 3394674 T C snp 3387.77 1/1 99 114 0 114 1.0 intronic rs4534324 ARHGEF16 AU NM_014448 exon11 c.14942+84T>C 0.971446 1 Uncertain 1_3395039_G->A 1 3395039 3395039 G A snp 6544.77 1/1 99 247 0 247 1.0 exonic rs10797395 ARHGEF16 AU synonymous SNV NM_014448 exon12 c.G1677A p.V559V 0.686102 0.6766 0.734238 0.8037 0.6602 Uncertain 1_3395229_T->C 1 3395229 3395229 T C snp 550.77 1/1 42 15 0 15 1.0 intronic rs4553117 ARHGEF16 AU NM_014448 exon12 c.15528+53T>C 0.973442 0.996 Uncertain 1_3395974_CC->- 1 3395974 3395975 CC - indel 4375.73 1/1 99 93 0 93 1.0 intronic rs397806933 ARHGEF16 AU NM_014448 exon13 c.16432-106_16432-105delCC Uncertain 1_3396420_G->A 1 3396420 3396420 G A snp 2486.77 0/1 99 250 143 107 0.43 exonic rs185082066 ARHGEF16 AU nonsynonymous SNV NM_014448 exon14 c.G1933A p.A645T 0.00119808 0.006 0.0003 0.0041 0.14 T 0.949 N -1.065 T 0.082 T 0.068 T Pathogenic 1_3396609_C->T 1 3396609 3396609 C T snp 461.77 1/1 36 13 0 13 1.0 intronic rs881978 ARHGEF16 AU NM_014448 exon14 c.16829+132C>T 0.679912 0.6766 Uncertain 1_3397188_T->C 1 3397188 3397188 T C snp 1919.77 1/1 99 60 0 60 1.0 UTR3 rs2487677 ARHGEF16 AU 0.991813 1 0.992714 0.9978 1 Uncertain 1_3417211_G->A 1 3417211 3417211 G A snp 1372.77 0/1 99 136 77 59 0.43 exonic rs61742846 MEGF6 AU nonsynonymous SNV NM_001409 exon21 c.C2693T p.P898L 0.0267572 0.0456 0.024498 0.0484 0.1131 0.47 T 1.000 N -1.041 T 0.006 T 0.013 T Pathogenic 1_3418053_G->A 1 3418053 3418053 G A snp 164.78 0/1 24 6 1 5 0.83 intronic rs116845611 MEGF6 AU NM_001409 exon19 c.10781+181G>A 0.00259585 0.0129 Uncertain 1_3418565_T->C 1 3418565 3418565 T C snp 1820.77 1/1 99 67 0 67 1.0 intronic rs2821030 MEGF6 AU NM_001409 exon20 c.11394+80T>C Uncertain 1_3418614_CG->- 1 3418614 3418615 CG - indel 1016.73 1/1 54 32 1 31 0.97 intronic rs139503756 MEGF6 AU NM_001409 exon20 c.11394+129_11394+130delCG Uncertain 1_3418616_G->A 1 3418616 3418616 G A snp 642.77 1/1 48 21 0 21 1.0 intronic rs57408931 MEGF6 AU NM_001409 exon20 c.11394+131G>A Uncertain 1_3418618_G->A 1 3418618 3418618 G A snp 494.77 1/1 39 21 0 21 1.0 intronic rs57082253 MEGF6 AU NM_001409 exon20 c.11394+133G>A Uncertain 1_3421586_C->T 1 3421586 3421586 C T snp 93.28 1/1 9 3 0 3 1.0 intronic rs6669870 MEGF6 AU NM_001409 exon21 c.14680-185C>T 0.322284 0.4286 Uncertain 1_3421658_A->T 1 3421658 3421658 A T snp 1416.77 1/1 99 44 0 44 1.0 intronic rs2821009 MEGF6 AU NM_001409 exon21 c.14680-113A>T 0.508986 0.6627 Uncertain 1_3424388_G->A 1 3424388 3424388 G A snp 2824.77 0/1 99 250 131 119 0.48 exonic rs947345 MEGF6 AU nonsynonymous SNV NM_001409 exon14 c.C1760T p.P587L 0.0597045 0.0466 0.064214 0.0477 0.0507 0.04 T 1.000 P -0.844 T 1.0 D 0.995 D Pathogenic 1_3428160_T->G 1 3428160 3428160 T G snp 4570.77 1/1 99 147 0 147 1.0 exonic rs2820999 MEGF6 AU synonymous SNV NM_001409 exon9 c.A1068C p.T356T 0.5 0.6409 0.421195 0.3713 0.6653 Uncertain 1_3428424_G->T 1 3428424 3428424 G T snp 1783.77 1/1 99 50 0 50 1.0 intronic rs4648391 MEGF6 AU NM_001409 exon30 c.21478-145G>T 0.346845 0.5089 Uncertain 1_3428428_C->T 1 3428428 3428428 C T snp 1419.77 1/1 99 39 0 39 1.0 intronic rs4648514 MEGF6 AU NM_001409 exon30 c.21478-141C>T 0.346845 0.5089 Uncertain 1_3428608_G->A 1 3428608 3428608 G A snp 2974.77 1/1 99 101 0 101 1.0 exonic rs11585362 MEGF6 AU nonsynonymous SNV NM_001409 exon8 c.C938T p.A313V 0.255192 0.4048 0.199116 0.1840 0.4212 0.3 T 0.0 P -1.110 T 0.95 T 0.36 D Pathogenic 1_3432278_C->G 1 3432278 3432278 C G snp 50.74 1/1 6 2 0 2 1.0 intronic rs12045137 MEGF6 AU NM_001409 exon32 c.25000+187C>G 0.290935 0.4206 Uncertain 1_3440647_T->C 1 3440647 3440647 T C snp 682.77 0/1 99 50 22 28 0.56 intronic rs2794322 MEGF6 AU NM_001409 exon33 c.33596-40T>C 0.937899 0.9137 0.958833 0.9493 0.8862 Uncertain 1_3440919_G->A 1 3440919 3440919 G A snp 414.77 0/1 99 26 11 15 0.58 intronic rs75891780 MEGF6 AU NM_001409 exon33 c.33719+109G>A 0.0545128 0.0833 Uncertain 1_3440943_A->C 1 3440943 3440943 A C snp 186.77 0/1 99 17 10 7 0.41 intronic rs12049449 MEGF6 AU NM_001409 exon33 c.33719+133A>C 0.302716 0.4187 Uncertain 1_3447797_G->A 1 3447797 3447797 G A snp 283.77 0/1 99 31 18 13 0.42 intronic rs4648521 MEGF6 AU NM_001409 exon33 c.33719+6987G>A 0.0489217 0.0873 0.0902 0.1293 0.01 T 1.000 N -0.872 T 0.0 T 0.001 T Uncertain 1_3496328_T->C 1 3496328 3496328 T C snp 381.77 0/1 99 27 10 17 0.63 intronic rs2821051 MEGF6 AU NM_001409 exon34 c.89297-60T>C 0.790535 0.7063 Uncertain 1_3496479_T->C 1 3496479 3496479 T C snp 673.77 0/1 99 88 53 35 0.4 exonic rs2794340 MEGF6 AU nonsynonymous SNV NM_001409 exon4 c.A391G p.S131G 0.852835 0.7054 0.904180 0.8831 0.6875 0.7 T 0.0 P -0.951 T 0.0 T 0.0 T Pathogenic 1_3511934_A->G 1 3511934 3511934 A G snp 5802.77 1/1 99 210 0 210 1.0 exonic rs7513275 MEGF6 AU nonsynonymous SNV NM_001409 exon3 c.T344C p.M115T 0.227236 0.3323 0.156890 0.1900 0.3726 0.92 T 0.000 P -1.101 T 0.0 T 0.0 T Pathogenic 1_3518857_A->C 1 3518857 3518857 A C snp 99.28 1/1 9 3 0 3 1.0 intronic rs2821014 MEGF6 AU NM_001409 exon36 c.111938-172A>C 0.998602 1 Uncertain 1_3518944_T->C 1 3518944 3518944 T C snp 531.77 0/1 99 36 15 21 0.58 intronic rs7521546 MEGF6 AU NM_001409 exon36 c.111938-85T>C 0.61881 0.6478 Uncertain 1_3519179_C->T 1 3519179 3519179 C T snp 507.77 0/1 99 60 35 25 0.42 intronic rs2794330 MEGF6 AU NM_001409 exon36 c.112073+15C>T 0.425519 0.4405 0.380093 0.4156 0.4799 Uncertain 1_3527944_C->G 1 3527944 3527944 C G snp 1556.77 1/1 99 56 0 56 1.0 UTR5 rs10797402 MEGF6 AU 0.936701 0.9851 Uncertain 1_3528082_T->C 1 3528082 3528082 T C snp 1130.77 1/1 81 43 0 43 1.0 upstream rs10797403 MEGF6 AU 0.983227 0.999 Uncertain 1_3548136_T->C 1 3548136 3548136 T C snp 4187.77 1/1 99 142 0 142 1.0 exonic rs2760321 WRAP73 AU synonymous SNV NM_017818 exon11 c.A1134G p.A378A 0.90615 0.995 0.850485 0.8727 0.9971 Uncertain 1_3563513_C->- 1 3563513 3563513 C - indel 235.8 1/1 18 6 0 6 1.0 intronic rs34514629 WRAP73 AU NM_017818 exon10 c.15808+167delC 0.514976 0.4762 Uncertain 1_3566626_GCAGGCTG->- 1 3566626 3566633 GCAGGCTG - indel 2693.73 1/1 75 40 0 40 1.0 UTR5 rs145464993 WRAP73 AU 0.374201 0.4653 0.309524 Uncertain 1_3566706_G->A 1 3566706 3566706 G A snp 261.8 1/1 21 8 0 8 1.0 upstream rs2251098 WRAP73 AU 0.707268 0.8036 Uncertain 1_3638674_C->T 1 3638674 3638674 C T snp 2719.77 0/1 99 250 136 114 0.46 exonic rs1801174 TP73 AU synonymous SNV NM_005427 exon5 c.C519T p.T173T 0.736022 0.5268 0.849462 0.8101 0.5180 Uncertain 1_3640085_C->G 1 3640085 3640085 C G snp 683.77 0/1 99 40 17 23 0.57 intronic rs6424091 TP73 AU NM_001204184 exon6 c.41104+52C>G 0.736621 0.5407 0.838920 0.7677 0.5397 Uncertain 1_3640135_CTGC->- 1 3640135 3640138 CTGC - indel 472.73 0/1 99 14 3 11 0.79 intronic rs35939665 TP73 AU NM_001204184 exon6 c.41104+102_41104+105delCTGC 0.713458 0.5486 Uncertain 1_3644349_A->G 1 3644349 3644349 A G snp 1262.77 0/1 99 89 36 53 0.6 intronic rs2181486 TP73 AU NM_001204184 exon8 c.45405+15A>G 0.64996 0.3353 0.787823 0.7240 0.3803 Uncertain 1_3644374_A->G 1 3644374 3644374 A G snp 729.77 0/1 99 50 22 28 0.56 intronic rs2146657 TP73 AU NM_001204184 exon8 c.45405+40A>G 0.64996 0.3353 0.793907 0.7272 0.3520 Uncertain 1_3644669_C->T 1 3644669 3644669 C T snp 1525.77 0/1 99 121 54 67 0.55 intronic rs2236367 TP73 AU NM_001204184 exon9 c.45763-23C>T 0.0722843 0.0625 0.050538 0.0683 0.0489 Uncertain 1_3644805_A->G 1 3644805 3644805 A G snp 1894.77 0/1 99 147 67 80 0.54 intronic rs2236366 TP73 AU NM_001204184 exon9 c.45852+24A>G 0.313099 0.2817 0.254578 0.1721 0.2758 Uncertain 1_3644858_G->C 1 3644858 3644858 G C snp 1205.77 0/1 99 99 45 54 0.55 intronic rs2236365 TP73 AU NM_001204184 exon9 c.45852+77G>C 0.192492 0.0625 Uncertain 1_3646192_G->A 1 3646192 3646192 G A snp 1191.77 0/1 99 102 49 53 0.52 intronic rs1885867 TP73 AU NM_001204184 exon10 c.47083+180G>A 0.597444 0.3284 0.739321 0.7228 0.3927 Uncertain 1_3646214_T->C 1 3646214 3646214 T C snp 1390.77 0/1 99 105 46 59 0.56 intronic rs1885866 TP73 AU NM_001204184 exon10 c.47083+202T>C 0.626398 0.3383 0.762531 0.7261 0.3944 Uncertain 1_3646291_G->A 1 3646291 3646291 G A snp 1549.77 0/1 99 109 45 64 0.59 intronic rs1885865 TP73 AU NM_001204184 exon11 c.47634-272G>A 0.597045 0.3284 Uncertain 1_3662845_A->G 1 3662845 3662845 A G snp 122.77 0/1 69 7 3 4 0.57 ncRNA_exonic;splicing rs3737589 TP73-AS1;TP73-AS1 UN 0.386981 0.2867 Uncertain 1_3669172_C->T 1 3669172 3669172 C T snp 2873.77 0/1 99 249 142 107 0.43 exonic rs41315312 CCDC27 AU nonsynonymous SNV NM_152492 exon1 c.C127T p.R43C 0.0778754 0.0645 0.062048 0.0730 0.0538 0.05 T 0.0 P -1.047 T 0.949 T 0.272 D Pathogenic 1_3669201_A->G 1 3669201 3669201 A G snp 2579.77 0/1 99 247 141 106 0.43 exonic rs10797410 CCDC27 AU synonymous SNV NM_152492 exon1 c.A156G p.P52P 0.508986 0.2897 0.497693 0.4108 0.2878 Uncertain 1_3669205_C->G 1 3669205 3669205 C G snp 2734.77 0/1 99 250 141 109 0.44 exonic rs10910021 CCDC27 AU nonsynonymous SNV NM_152492 exon1 c.C160G p.Q54E 0.387181 0.2897 0.377057 0.3773 0.2882 0.78 T 0.0 P -0.912 T 0.0 T 0.0 T Pathogenic 1_3677933_T->C 1 3677933 3677933 T C snp 844.77 0/1 99 67 29 38 0.57 exonic rs1181883 CCDC27 AU nonsynonymous SNV NM_152492 exon5 c.T800C p.M267T 0.476038 0.2788 0.468399 0.4149 0.2832 0.49 T 0.0 P -1.015 T 0.0 T 0.0 T Pathogenic 1_3679139_T->C 1 3679139 3679139 T C snp 222.77 0/1 99 36 23 13 0.36 intronic rs1181879 CCDC27 AU NM_152492 exon6 c.10138-44T>C 0.516973 0.2847 0.552921 0.4726 0.2878 Uncertain 1_3683914_T->A 1 3683914 3683914 T A snp 1985.77 0/1 99 200 117 83 0.41 exonic rs2275839 CCDC27 AU nonsynonymous SNV NM_152492 exon10 c.T1648A p.W550R 0.0273562 0.0883 0.001230 0.0181 0.1175 0.65 T 1 N -0.973 T 0.026 T 0.029 T Pathogenic 1_3684107_T->A 1 3684107 3684107 T A snp 54.74 1/1 6 2 0 2 1.0 intronic rs1181872 CCDC27 AU NM_152492 exon10 c.14964+98T>A 0.438898 0.1131 Uncertain 1_3686318_G->A 1 3686318 3686318 G A snp 1413.77 0/1 99 110 50 60 0.55 intronic rs2275837 CCDC27 AU NM_152492 exon11 c.17301-28G>A 0.0347444 0.0923 0.011456 0.0307 0.1204 Uncertain 1_3687889_C->T 1 3687889 3687889 C T snp 718.77 0/1 99 59 28 31 0.53 intronic rs76581100 CCDC27 AU NM_152492 exon12 c.18919-75C>T 0.0345447 0.0893 Uncertain 1_3703710_G->A 1 3703710 3703710 G A snp 1833.77 0/1 99 157 80 77 0.49 exonic rs2253143 LRRC47 AU synonymous SNV NM_020710 exon2 c.C780T p.V260V 0.0932508 0.2837 0.020068 0.0551 0.2868 Uncertain 1_3742847_C->A 1 3742847 3742847 C A snp 810.77 0/1 99 78 41 37 0.47 intronic CEP104 AR NM_014704 exon6 c.10968-86C>A Uncertain 1_3746254_T->C 1 3746254 3746254 T C snp 50.74 1/1 6 2 0 2 1.0 intronic rs2275830 CEP104 AR NM_014704 exon9 c.14389-100T>C 0.789537 0.4792 Uncertain 1_3746583_G->T 1 3746583 3746583 G T snp 936.77 1/1 69 33 0 33 1.0 intronic rs2275828 CEP104 AR NM_014704 exon9 c.14596+22G>T 0.34984 0.3383 0.373135 0.3833 0.3238 Uncertain 1_3746589_C->G 1 3746589 3746589 C G snp 879.77 1/1 63 33 0 33 1.0 intronic rs2275826 CEP104 AR NM_014704 exon9 c.14596+28C>G 0.789537 0.4792 0.939471 0.8589 0.4859 Uncertain 1_3747580_C->T 1 3747580 3747580 C T snp 206.84 1/1 18 7 0 7 1.0 intronic rs6424058 CEP104 AR NM_014704 exon10 c.15644-29C>T 0.345048 0.3383 0.369676 0.3847 0.3213 Uncertain 1_3747603_T->C 1 3747603 3747603 T C snp 349.78 1/1 27 11 0 11 1.0 intronic rs6413779 CEP104 AR NM_014704 exon10 c.15644-6T>C 0.789537 0.4792 0.939566 0.8587 0.4829 Uncertain 1_3753136_A->T 1 3753136 3753136 A T snp 3294.77 1/1 99 121 0 121 1.0 exonic rs2275824 CEP104 AR nonsynonymous SNV NM_014704 exon10 c.T1240A p.L414I 0.302716 0.3383 0.329002 0.3698 0.3225 0.3 T 0.000 P -0.898 T 0.022 T 0.018 T Pathogenic 1_3755675_T->C 1 3755675 3755675 T C snp 7360.77 1/1 99 249 0 249 1.0 exonic rs1891941 CEP104 AR synonymous SNV NM_014704 exon8 c.A744G p.E248E 0.789537 0.4792 0.939566 0.8584 0.4837 Uncertain 1_3755869_T->C 1 3755869 3755869 T C snp 393.77 1/1 30 10 0 10 1.0 intronic rs1891940 CEP104 AR NM_014704 exon15 c.23718+186T>C 0.789537 0.4792 Uncertain 1_3755875_T->G 1 3755875 3755875 T G snp 334.78 1/1 27 9 0 9 1.0 intronic rs1891939 CEP104 AR NM_014704 exon15 c.23718+192T>G 0.789537 0.4792 Uncertain 1_3756120_A->G 1 3756120 3756120 A G snp 2762.77 1/1 99 87 0 87 1.0 intronic rs1539649 CEP104 AR NM_014704 exon16 c.24206-51A>G 0.384385 0.4266 0.392845 Uncertain 1_3759784_A->G 1 3759784 3759784 A G snp 1347.77 1/1 96 53 0 53 1.0 intronic rs10797347 CEP104 AR NM_014704 exon17 c.29505-1686A>G 0.789537 0.4792 0.8273 0.4712 0.43 T 0.0 P -1.025 T Uncertain 1_3761479_C->T 1 3761479 3761479 C T snp 2179.77 1/1 99 84 2 82 0.98 exonic rs2275822 CEP104 AR synonymous SNV NM_014704 exon6 c.G558A p.T186T 0.349441 0.3383 0.376672 0.3832 0.3233 Uncertain 1_3761650_A->G 1 3761650 3761650 A G snp 1081.77 1/1 81 37 0 37 1.0 intronic rs2275821 CEP104 AR NM_014704 exon17 c.29582+103A>G 0.789337 0.4802 Uncertain 1_3775454_C->G 1 3775454 3775454 C G snp 2086.77 1/1 99 66 0 66 1.0 intronic rs4376673 DFFB AU NM_001282669 exon2 c.1263+24C>G 0.813299 0.5 0.954406 0.8670 0.5127 Uncertain 1_3782608_C->T 1 3782608 3782608 C T snp 207.84 1/1 18 9 0 9 1.0 intronic rs10909809 DFFB AU NM_004402 exon3 c.8397+44C>T 0.434305 0.3095 0.594383 0.5975 0.3425 Uncertain 1_3786189_G->A 1 3786189 3786189 G A snp 2271.77 1/1 99 79 1 78 0.99 exonic rs1141070 DFFB AU synonymous SNV NM_001282669 exon5 c.G603A p.T201T 0.214257 0.1349 0.306858 0.2939 0.1384 Uncertain 1_3789178_-->GGCCCTGTCCCTGCCGC 1 3789178 3789178 - GGCCCTGTCCCTGCCGC indel 10569.7 1/1 99 128 0 128 1.0 intronic rs202183040 DFFB AU NM_004402 exon6 c.14969+42insGGCCCTGTCCCTGCCGC Uncertain 1_3789195_T->C 1 3789195 3789195 T C snp 2095.77 1/1 99 75 0 75 1.0 intronic rs11581401 DFFB AU NM_004402 exon6 c.14969+59T>C 0.425519 0.2827 Uncertain 1_3789662_A->G 1 3789662 3789662 A G snp 56.74 1/1 6 2 0 2 1.0 intronic rs11581471 DFFB AU NM_004402 exon6 c.14969+526A>G 0.635184 0.5734 Uncertain 1_3800242_A->G 1 3800242 3800242 A G snp 3248.77 1/1 99 124 0 124 1.0 exonic rs3205087 DFFB AU synonymous SNV NM_001282669 exon7 c.A1026G p.P342P 0.355831 0.3482 0.412886 0.3971 0.3335 Uncertain 1_3807593_G->C 1 3807593 3807593 G C snp 5854.77 1/1 99 209 0 209 1.0 exonic rs4274008 C1orf174 AU nonsynonymous SNV NM_207356 exon3 c.C158G p.T53R 0.997804 0.999 0.994075 0.9941 0.9999 1 T 0.0 P -1.001 T 0.0 T 0.0 T Pathogenic 1_4715648_T->G 1 4715648 4715648 T G snp 1323.77 0/1 99 94 47 47 0.5 intronic rs180746966 AJAP1 AU NM_018836 exon1 c.29+134T>G 0.0521166 0.0764 Uncertain 1_4772053_T->C 1 4772053 4772053 T C snp 1466.77 0/1 99 188 117 71 0.38 exonic rs1061968 AJAP1 AU synonymous SNV NM_001042478 exon2 c.T123C p.C41C 0.526757 0.6567 0.411092 0.4616 0.6680 Uncertain 1_4772717_G->A 1 4772717 4772717 G A snp 1499.77 0/1 99 114 56 58 0.51 exonic rs242056 AJAP1 AU nonsynonymous SNV NM_001042478 exon2 c.G787A p.G263R 0.360823 0.2728 0.524066 0.5284 0.2568 0.32 T 0.171 P -1.012 T 0.999 D 0.892 D Pathogenic 1_4829795_C->T 1 4829795 4829795 C T snp 262.77 0/1 99 14 5 9 0.64 intronic rs3950181 AJAP1 AU NM_018836 exon3 c.114427-117C>T 0.126597 0.1746 Uncertain 1_4829835_A->G 1 4829835 4829835 A G snp 536.77 0/1 99 40 21 19 0.47 intronic rs2072901 AJAP1 AU NM_018836 exon3 c.114427-77A>G 0.214457 0.4038 Uncertain 1_4834420_C->T 1 4834420 4834420 C T snp 607.77 0/1 99 39 16 23 0.59 intronic rs12747519 AJAP1 AU NM_018836 exon5 c.119001-66C>T 0.162141 0.3849 Uncertain 1_5934500_T->C 1 5934500 5934500 T C snp 2625.77 0/1 99 242 130 112 0.46 intronic rs905467 NPHP4 AR NM_001291593 exon9 c.11206-30T>C 0.271166 0.3819 0.174984 0.3143 0.4473 Uncertain 1_5935110_G->A 1 5935110 5935110 G A snp 1176.77 0/1 99 96 46 50 0.52 exonic rs138025088 NPHP4 AR synonymous SNV NM_015102 exon21 c.C2868T p.A956A 0.00978435 0.0486 0.0029 0.0403 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000153586.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 ID=COSM298015;OCCURENCE=1(large_intestine) Uncertain 1_5935162_A->T 1 5935162 5935162 A T snp 876.77 0/1 99 70 37 33 0.47 splicing rs1287637 NPHP4 AR NM_001291593 exon10 c.11836+2A>T 0.843251 0.7907 0.843133 0.8362 0.8179 1.0 P CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000153587.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 1_5937091_T->C 1 5937091 5937091 T C snp 326.78 1/1 27 10 0 10 1.0 intronic rs1622955 NPHP4 AR NM_001291593 exon11 c.13828-61T>C 0.904153 0.8671 Uncertain 1_5937168_G->A 1 5937168 5937168 G A snp 1806.77 1/1 99 53 0 53 1.0 exonic rs3747992 NPHP4 AR synonymous SNV NM_015102 exon20 c.C2802T p.R934R 0.453474 0.7341 0.352415 0.4751 0.7722 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000081712.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 1_5937391_C->T 1 5937391 5937391 C T snp 5125.77 1/1 99 196 0 196 1.0 intronic rs3747989 NPHP4 AR NM_001291593 exon11 c.14034+33C>T 0.832668 0.8373 0.851553 0.8108 0.8503 Uncertain 1_5937413_A->C 1 5937413 5937413 A C snp 4359.77 1/1 99 153 0 153 1.0 intronic rs3747988 NPHP4 AR NM_001291593 exon11 c.14034+55A>C 0.471645 0.7351 Uncertain 1_5939544_T->G 1 5939544 5939544 T G snp 6118.77 1/1 99 223 0 223 1.0 intronic rs11121915 NPHP4 AR NM_001291593 exon12 c.16849-629T>G 0.834265 0.8423 0.842693 0.7983 0.8538 Uncertain 1_5948677_G->A 1 5948677 5948677 G A snp 4561.77 1/1 99 159 0 159 1.0 intronic rs2282281 NPHP4 AR NM_001291593 exon13 c.24202+1151G>A 0.833866 0.8413 0.842693 0.7974 0.8530 Uncertain 1_5964991_T->C 1 5964991 5964991 T C snp 442.77 0/1 99 54 37 17 0.31 intronic rs3737234 NPHP4 AR NM_001291593 exon15 c.41540+127T>C 0.832867 0.8254 Uncertain 1_6027252_A->G 1 6027252 6027252 A G snp 121.77 0/1 99 27 21 6 0.22 intronic rs875573 NPHP4 AR NM_001291593 exon23 c.104034-106A>G 0.660144 0.746 Uncertain 1_6038583_G->C 1 6038583 6038583 G C snp 204.77 0/1 99 34 23 11 0.32 intronic rs4908639 NPHP4 AR NM_001291593 exon25 c.115149+110G>C 0.838858 0.8333 Uncertain 1_6046432_C->G 1 6046432 6046432 C G snp 34.77 0/1 63 7 5 2 0.29 intronic rs1295111 NPHP4 AR NM_001291593 exon26 c.123063+45C>G 0.38778 0.256 Uncertain 1_6100458_G->A 1 6100458 6100458 G A snp 398.77 0/1 99 35 20 15 0.43 intronic rs12566866 KCNAB2 AU 0.435104 0.5675 Uncertain 1_6145365_A->G 1 6145365 6145365 A G snp 944.77 1/1 69 29 0 29 1.0 intronic rs2294936 KCNAB2 AU NM_172130 exon6 c.44680+57A>G 0.686502 0.7798 0.694481 Uncertain 1_6145379_C->T 1 6145379 6145379 C T snp 155.77 0/1 99 25 18 7 0.28 intronic rs2294935 KCNAB2 AU NM_172130 exon6 c.44680+71C>T 0.0894569 0.1994 0.088261 Uncertain 1_6145407_G->A 1 6145407 6145407 G A snp 230.77 0/1 99 11 4 7 0.64 intronic rs2294934 KCNAB2 AU NM_172130 exon6 c.44680+99G>A 0.142173 0.3373 Uncertain 1_6147298_C->T 1 6147298 6147298 C T snp 42.77 0/1 31 3 1 2 0.67 intronic rs11583631 KCNAB2 AU NM_172130 exon7 c.46898-228C>T 0.0950479 0.2123 Uncertain 1_6147341_A->C 1 6147341 6147341 A C snp 275.77 0/1 54 14 4 10 0.71 intronic rs11584419 KCNAB2 AU NM_172130 exon7 c.46898-185A>C 0.0980431 0.2143 Uncertain 1_6148922_G->C 1 6148922 6148922 G C snp 431.77 0/1 99 32 15 17 0.53 intronic rs2273044 KCNAB2 AU NM_172130 exon8 c.48439-145G>C 0.158946 0.3393 Uncertain 1_6149053_C->T 1 6149053 6149053 C T snp 490.77 0/1 99 49 26 23 0.47 intronic rs2273043 KCNAB2 AU NM_172130 exon8 c.48439-14C>T 0.0972444 0.2133 0.070506 0.0799 0.2141 Uncertain 1_6149122_G->A 1 6149122 6149122 G A snp 184.77 0/1 99 23 14 9 0.39 intronic rs2273042 KCNAB2 AU NM_172130 exon8 c.48483+11G>A 0.0970447 0.2133 0.071215 0.0800 0.2194 Uncertain 1_6150426_C->G 1 6150426 6150426 C G snp 1397.77 0/1 99 147 78 69 0.47 intronic rs183641398 KCNAB2 AU NM_172130 exon9 c.49820-22C>G 0.00579073 0.0258 0.0015 0.0204 Uncertain 1_6150637_C->T 1 6150637 6150637 C T snp 252.77 0/1 99 15 6 9 0.6 intronic rs12081978 KCNAB2 AU NM_172130 exon9 c.49907+102C>T 0.40655 0.4355 Uncertain 1_6154417_C->T 1 6154417 6154417 C T snp 606.77 0/1 99 64 39 25 0.39 intronic rs2294932 KCNAB2 AU NM_172130 exon10 c.53831-42C>T 0.23103 0.3899 0.201619 0.2509 0.4156 Uncertain 1_6155332_T->C 1 6155332 6155332 T C snp 690.77 1/1 51 23 0 23 1.0 intronic rs1555144 KCNAB2 AU NM_172130 exon11 c.54754-50T>C 0.727236 0.753 0.780026 0.6974 0.7453 Uncertain 1_6156915_G->A 1 6156915 6156915 G A snp 154.78 0/1 24 6 1 5 0.83 intronic rs2235792 KCNAB2 AU NM_172130 exon13 c.56188+99G>A 0.131789 0.3522 Uncertain 1_6157297_T->C 1 6157297 6157297 T C snp 821.77 0/1 99 62 31 31 0.5 intronic rs749435 KCNAB2 AU NM_172130 exon14 c.56700-31T>C 0.102436 0.2063 0.078882 0.1054 0.2232 Uncertain 1_6158562_A->G 1 6158562 6158562 A G snp 2380.77 0/1 99 250 141 109 0.44 exonic rs2229002 KCNAB2 AU synonymous SNV NM_003636 exon16 c.A1032G p.S344S 0.54393 0.4018 0.614580 0.5750 0.4055 Uncertain 1_6160115_G->A 1 6160115 6160115 G A snp 321.77 0/1 99 49 34 15 0.31 UTR3 rs34324678 KCNAB2 AU 0.129393 0.3562 0.1380 0.3786 Uncertain 1_6161959_G->A 1 6161959 6161959 G A snp 1412.77 0/1 99 128 62 66 0.52 UTR3 rs12758341 CHD5 AU 0.130192 0.3552 0.2268 0.5 Uncertain 1_6162054_T->C 1 6162054 6162054 T C snp 1370.77 1/1 99 43 0 43 1.0 UTR3 rs6696489 CHD5 AU 0.704473 0.8641 0.6180 0.8367 0.25 T 0.0 P -1.048 T Uncertain 1_6165419_C->T 1 6165419 6165419 C T snp 3505.77 1/1 99 131 0 131 1.0 UTR3 rs1883768 CHD5 AU 0.138379 0.378 0.1381 0.3837 Uncertain 1_6172875_G->A 1 6172875 6172875 G A snp 683.77 1/1 51 20 0 20 1.0 intronic rs4908515 CHD5 AU NM_015557 exon9 c.6629-93G>A 0.728035 0.995 Uncertain 1_6173649_A->G 1 6173649 6173649 A G snp 266.8 1/1 21 10 0 10 1.0 intronic rs2785580 CHD5 AU NM_015557 exon9 c.6719+591A>G 0.714457 0.995 Uncertain 1_6184092_A->G 1 6184092 6184092 A G snp 2239.77 1/1 99 85 0 85 1.0 exonic rs2843493 CHD5 AU nonsynonymous SNV NM_015557 exon31 c.T4615C p.S1539P 0.727636 0.994 0.587959 0.6570 0.9969 0.35 T 0.000 P -0.976 T 0.0 T 0.0 T Pathogenic 1_6184192_A->G 1 6184192 6184192 A G snp 1576.77 1/1 99 65 0 65 1.0 intronic rs2273041 CHD5 AU NM_015557 exon12 c.17828+25A>G 0.638379 0.8254 0.499539 0.5608 0.8318 Uncertain 1_6184286_A->G 1 6184286 6184286 A G snp 508.77 1/1 39 16 0 16 1.0 intronic rs2273040 CHD5 AU NM_015557 exon12 c.17828+119A>G 0.669728 0.8274 Uncertain 1_6186961_A->G 1 6186961 6186961 A G snp 378.77 1/1 30 11 0 11 1.0 intronic rs2746060 CHD5 AU NM_015557 exon17 c.20467+155A>G 1 1 Uncertain 1_6188803_T->A 1 6188803 6188803 T A snp 2264.77 1/1 99 64 0 64 1.0 intronic rs1883766 CHD5 AU NM_015557 exon20 c.22558-94T>A 0.133786 0.3512 Uncertain 1_6190215_C->T 1 6190215 6190215 C T snp 1567.77 1/1 99 60 0 60 1.0 intronic rs9434662 CHD5 AU NM_015557 exon21 c.23924-48C>T 0.283946 0.6339 0.173766 0.2335 0.6356 Uncertain 1_6190315_C->T 1 6190315 6190315 C T snp 3481.77 1/1 99 132 0 132 1.0 exonic rs17029184 CHD5 AU synonymous SNV NM_015557 exon22 c.G3336A p.A1112A 0.104832 0.3433 0.060587 0.0864 0.3374 Uncertain 1_6194347_T->G 1 6194347 6194347 T G snp 2685.77 1/1 99 101 0 101 1.0 intronic rs3765452 CHD5 AU NM_015557 exon23 c.27980+28T>G 0.33726 0.6438 0.224281 0.2461 0.6435 Uncertain 1_6195024_C->T 1 6195024 6195024 C T snp 168.9 1/1 15 5 0 5 1.0 intronic rs2746067 CHD5 AU NM_015557 exon24 c.28580+105C>T 0.551318 0.7956 Uncertain 1_6195493_G->A 1 6195493 6195493 G A snp 1475.77 1/1 99 41 0 41 1.0 intronic rs2250504 CHD5 AU NM_015557 exon25 c.29124+30G>A 0.509984 0.7956 0.378825 0.4817 0.7955 Uncertain 1_6196493_A->G 1 6196493 6196493 A G snp 250.8 1/1 21 8 0 8 1.0 intronic rs7526887 CHD5 AU NM_015557 exon26 c.30237-83A>G 0.516973 0.7986 Uncertain 1_6196517_G->A 1 6196517 6196517 G A snp 460.77 1/1 36 14 0 14 1.0 intronic rs7513548 CHD5 AU NM_015557 exon26 c.30237-59G>A 0.516773 0.7986 Uncertain 1_6196869_A->G 1 6196869 6196869 A G snp 2619.77 1/1 99 95 0 95 1.0 exonic rs2250358 CHD5 AU synonymous SNV NM_015557 exon16 c.T2493C p.I831I 0.517772 0.7996 0.389974 0.4835 0.7965 Uncertain 1_6196943_A->G 1 6196943 6196943 A G snp 1891.77 1/1 99 74 0 74 1.0 intronic rs2746066 CHD5 AU NM_015557 exon27 c.30586+18A>G 0.516973 0.7996 0.389974 0.4784 0.7903 Uncertain 1_6196951_T->A 1 6196951 6196951 T A snp 1647.77 1/1 99 69 0 69 1.0 intronic rs2785582 CHD5 AU NM_015557 exon27 c.30586+26T>A 0.517173 0.7996 0.389897 0.4769 0.7890 Uncertain 1_6197092_A->G 1 6197092 6197092 A G snp 94.28 1/1 9 3 0 3 1.0 intronic rs17436753 CHD5 AU NM_015557 exon27 c.30586+167A>G 0.513179 0.7956 Uncertain 1_6197107_G->A 1 6197107 6197107 G A snp 56.74 1/1 6 2 0 2 1.0 intronic rs58155258 CHD5 AU NM_015557 exon27 c.30586+182G>A 0.51278 0.7956 Uncertain 1_6202245_G->A 1 6202245 6202245 G A snp 3339.77 0/1 99 250 132 118 0.47 exonic rs2273032 CHD5 AU synonymous SNV NM_015557 exon15 c.C2379T p.N793N 0.132788 0.3323 0.094802 0.1181 0.3462 Uncertain 1_6204222_C->G 1 6204222 6204222 C G snp 1715.77 0/1 99 148 74 74 0.5 intronic rs17489787 CHD5 AU NM_015557 exon31 c.37876+7C>G 0.166933 0.1359 0.138705 0.1376 0.1319 Uncertain 1_6204266_A->G 1 6204266 6204266 A G snp 1310.77 0/1 99 102 49 53 0.52 intronic rs9435102 CHD5 AU NM_015557 exon31 c.37876+51A>G 0.710663 0.8413 0.575581 0.5871 0.8345 Uncertain 1_6239937_-->G 1 6239937 6239937 - G indel 2926.73 1/1 99 71 0 71 1.0 intronic rs70981314 CHD5 AU NM_015557 exon42 c.73665-67insG 0.998403 1 Uncertain 1_6257826_T->C 1 6257826 6257826 T C snp 1958.77 1/1 99 77 0 77 1.0 intronic rs2294714 RPL22 AU NM_000983 exon3 c.11085+10T>C 0.360224 0.4554 0.310165 0.3163 0.4690 Uncertain 1_6257856_G->A 1 6257856 6257856 G A snp 1986.77 1/1 99 78 0 78 1.0 intronic rs2294713 RPL22 AU NM_000983 exon3 c.11085+40G>A 0.565695 0.6607 0.525450 0.4992 0.6765 Uncertain 1_6310024_C->T 1 6310024 6310024 C T snp 377.77 1/1 30 14 0 14 1.0 exonic rs78132938 GPR153 AU nonsynonymous SNV NM_207370 exon6 c.G1204A p.V402M 0.0357428 0.1756 0.0324 0.2537 0.11 T 0.187 P -1.008 T 0.008 T 0.002 T Pathogenic 1_6453520_-->G 1 6453520 6453520 - G indel 551.73 1/1 39 13 0 13 1.0 intergenic rs76483502 ACOT7 AU 1 1 Uncertain 1_6490016_G->A 1 6490016 6490016 G A snp 338.77 0/1 99 27 13 14 0.52 intronic rs12075883 ESPN AR,AU NM_031475 exon2 c.3464+1537G>A 0.0874601 0.1438 Uncertain 1_6500919_T->C 1 6500919 6500919 T C snp 132.77 0/1 99 15 9 6 0.4 intronic rs3817918 ESPN AR,AU NM_031475 exon4 c.15853+51T>C 0.31869 0.1647 0.169765 0.2612 0.2604 Uncertain 1_6501044_C->G 1 6501044 6501044 C G snp 685.77 0/1 99 50 22 28 0.56 exonic rs2311045 ESPN AR,AU synonymous SNV NM_031475 exon5 c.C909G p.R303R 0.182109 0.1647 0.158452 0.1949 0.2247 Uncertain 1_6508712_T->C 1 6508712 6508712 T C snp 120.77 0/1 99 16 9 7 0.44 exonic rs77656032 ESPN AR,AU synonymous SNV NM_031475 exon8 c.T1476C p.C492C 0.229832 0.0159 0.153906 0.1558 0.0275 Uncertain 1_6508872_C->T 1 6508872 6508872 C T snp 79.77 0/1 99 13 7 6 0.46 exonic rs138198721 ESPN AR,AU nonsynonymous SNV NM_031475 exon8 c.C1636T p.R546C 0.216254 0.0159 0.2554 . 0.07 T 0.993 P -0.911 T 0.0 T 0.0 T Pathogenic 1_6511582_A->G 1 6511582 6511582 A G snp 406.77 0/1 99 28 14 14 0.5 intronic rs9434774 ESPN AR,AU NM_031475 exon9 c.26647-80A>G 0.298323 0.0218 Uncertain 1_6520024_C->A 1 6520024 6520024 C A snp 625.77 0/1 99 60 31 29 0.48 intronic rs3138159 ESPN AR,AU NM_031475 exon13 c.35043-34C>A 0.0640974 0.0159 0.074935 0.0727 0.0127 Uncertain 1_6521150_A->C 1 6521150 6521150 A C snp 1468.77 0/1 99 121 61 60 0.5 downstream rs2986758 ESPN AR,AU 0.297324 0.0228 Uncertain 1_6525915_T->C 1 6525915 6525915 T C snp 286.77 0/1 99 23 10 13 0.57 intronic rs1536593 TNFRSF25 AU NM_003790 exon10 c.4635-213T>C 0.101438 0.0109 Uncertain 1_6529183_TCCTCC->- 1 6529183 6529188 TCCTCC - indel 3291.73 0/1 99 110 36 74 0.67 exonic rs375111412 PLEKHG5 AR nonframeshift deletion NM_020631 exon19 c.2163_2168del p.721_723del 0.024916 0.0112 0.0114 Uncertain 1_6529550_T->G 1 6529550 6529550 T G snp 2418.77 0/1 99 197 102 95 0.48 intronic rs200711247 PLEKHG5 AR NM_001265592 exon4 c.1888+40T>G 0.00159744 0.0079 0.0005 0.0075 Uncertain 1_6530965_-->G 1 6530965 6530965 - G indel 2248.73 1/1 99 62 0 62 1.0 intronic rs111312565 PLEKHG5 AR NM_001265592 exon8 c.3322+21insG 1 1 0.998506 1 1 Uncertain 1_6545390_A->T 1 6545390 6545390 A T snp 577.77 0/1 99 48 23 25 0.52 intronic rs75490131 PLEKHG5 AR NM_001265593 exon21 c.17761+7A>T 0.292133 0.2569 0.3451 0.3293 1 T 0.000 P -0.964 T 0.0 T 0.0 T Uncertain 1_6557009_A->C 1 6557009 6557009 A C snp 1006.77 0/1 99 92 47 45 0.49 intergenic rs3007430 PLEKHG5 AR 0.324481 0.2758 0.1943 0.2692 Uncertain 1_6579607_C->T 1 6579607 6579607 C T snp 458.77 0/1 99 62 39 23 0.37 intergenic rs1556035 PLEKHG5 AR 0.746006 0.8075 0.774370 0.8523 0.8012 Uncertain 1_6579653_G->C 1 6579653 6579653 G C snp 583.77 0/1 99 29 8 21 0.72 intergenic rs41278014 PLEKHG5 AR 0.171725 0.1617 Uncertain 1_6585804_C->T 1 6585804 6585804 C T snp 403.77 0/1 99 24 11 13 0.54 UTR3 rs13513 NOL9 AU 0.741613 0.7917 Uncertain 1_6586070_C->T 1 6586070 6586070 C T snp 5579.77 1/1 99 207 0 207 1.0 intronic rs7548042 NOL9 AU NM_024654 exon1 c.150+7C>T 0.979433 1 0.975473 0.9935 1 Uncertain 1_6591937_T->C 1 6591937 6591937 T C snp 276.77 0/1 99 16 5 11 0.69 intronic rs932112 NOL9 AU NM_024654 exon4 c.6114-90T>C 0.779353 0.8234 Uncertain 1_6593532_G->A 1 6593532 6593532 G A snp 1012.77 0/1 99 90 48 42 0.47 intronic rs11122083 NOL9 AU NM_024654 exon6 c.7588+31G>A 0.146166 0.1667 0.121962 0.1212 0.1679 Uncertain 1_6609559_C->A 1 6609559 6609559 C A snp 397.77 0/1 99 23 9 14 0.61 intronic rs11122091 NOL9 AU NM_024654 exon10 c.23717-71C>A 0.717652 0.7937 Uncertain 1_6609564_AT->- 1 6609564 6609565 AT - indel 362.73 0/1 99 24 15 9 0.38 intronic rs112706751 NOL9 AU NM_024654 exon10 c.23717-66_23717-65delAT 0.202676 0.1766 Uncertain 1_6609792_-->T 1 6609792 6609792 - T indel 4086.73 0/1 99 225 109 116 0.52 intronic rs34858690 NOL9 AU NM_024654 exon10 c.23845+34insT 0.178115 0.1627 0.163153 0.1309 0.1658 Uncertain 1_6609851_A->G 1 6609851 6609851 A G snp 3615.77 1/1 99 127 0 127 1.0 intronic rs10864622 NOL9 AU NM_024654 exon10 c.23845+93A>G 0.982428 1 Uncertain 1_6609896_G->A 1 6609896 6609896 G A snp 855.77 0/1 99 52 22 30 0.58 intronic rs11579888 NOL9 AU NM_024654 exon10 c.23845+138G>A 0.767173 0.7937 Uncertain 1_6609958_C->T 1 6609958 6609958 C T snp 240.88 0/1 16 8 1 7 0.88 intronic rs11581831 NOL9 AU NM_024654 exon10 c.23845+200C>T 0.767173 0.7937 Uncertain 1_6610366_T->C 1 6610366 6610366 T C snp 37.77 0/1 66 6 4 2 0.33 intronic rs2063805 NOL9 AU NM_024654 exon11 c.24542-89T>C 0.770168 0.7937 Uncertain 1_6610382_C->T 1 6610382 6610382 C T snp 193.77 0/1 99 23 14 9 0.39 intronic rs2063806 NOL9 AU NM_024654 exon11 c.24542-73C>T 0.767372 0.7937 Uncertain 1_6614230_G->A 1 6614230 6614230 G A snp 109.77 0/1 99 38 30 8 0.21 exonic rs10864625 NOL9 AU synonymous SNV NM_024654 exon1 c.C333T p.L111L 0.188099 0.1766 0.126167 0.1848 0.2136 Uncertain 1_6614391_A->C 1 6614391 6614391 A C snp 1005.77 1/1 72 34 0 34 1.0 exonic rs6693391 NOL9 AU nonsynonymous SNV NM_024654 exon1 c.T172G p.S58A 0.95627 0.9692 0.961256 0.9785 0.9467 1 T 0.0 P -0.969 T 0.0 T 0.0 T Pathogenic 1_6614415_A->G 1 6614415 6614415 A G snp 867.77 1/1 63 30 0 30 1.0 exonic rs6693400 NOL9 AU nonsynonymous SNV NM_024654 exon1 c.T148C p.W50R 0.979832 1 0.972997 0.9912 1 1 T 0.000 P -0.964 T 0.0 T 0.0 T Pathogenic 1_6614535_G->A 1 6614535 6614535 G A snp 673.77 0/1 99 45 15 30 0.67 exonic rs4908923 NOL9 AU nonsynonymous SNV NM_024654 exon1 c.C28T p.R10W 0.722244 0.7927 0.786797 0.8446 0.7922 0 D 0.0 P -1.090 T 1.0 D 0.925 D Pathogenic 1_6614653_C->G 1 6614653 6614653 C G snp 168.77 0/1 88 12 3 9 0.75 UTR5 rs4908924 NOL9 AU 0.761781 0.7927 Uncertain 1_6615690_A->G 1 6615690 6615690 A G snp 328.77 0/1 99 34 20 14 0.41 intronic rs925745 TAS1R1 AU NM_138697 exon1 c.191+66A>G 0.724641 0.7907 Uncertain 1_6615695_C->T 1 6615695 6615695 C T snp 320.77 0/1 99 33 20 13 0.39 intronic rs925744 TAS1R1 AU NM_138697 exon1 c.191+71C>T 0.738419 0.7907 Uncertain 1_6631319_G->A 1 6631319 6631319 G A snp 301.78 1/1 24 8 0 8 1.0 intronic rs11122096 TAS1R1 AU NM_138697 exon2 c.15842+44G>A 0.888578 0.9385 0.900354 0.9543 0.9423 Uncertain 1_6635231_A->G 1 6635231 6635231 A G snp 6772.77 1/1 99 250 0 250 1.0 exonic rs10864628 TAS1R1 AU nonsynonymous SNV NM_138697 exon3 c.A1039G p.K347E 0.923323 1 0.919729 0.9769 1 1 T 0.0 P -0.971 T 0.056 T 0.028 T Pathogenic 1_6635306_G->A 1 6635306 6635306 G A snp 3607.77 0/1 99 250 111 139 0.56 exonic rs34160967 TAS1R1 AU nonsynonymous SNV NM_138697 exon3 c.G1114A p.A372T 0.135383 0.3204 0.106412 0.1349 0.3171 0.73 T 0.0 P -0.941 T 0.372 T 0.094 T ID=CM096405;DIS=Increased sensitivity of umami taste receptor;TAG=DFP;PUB=19696921 DFP Pathogenic 1_6636461_C->T 1 6636461 6636461 C T snp 1222.77 0/1 99 113 60 53 0.47 intronic rs17492553 TAS1R1 AU NM_138697 exon4 c.21041-13C>T 0.369808 0.3472 0.440181 0.4731 0.3345 Uncertain 1_6637171_G->A 1 6637171 6637171 G A snp 903.77 0/1 99 63 29 34 0.54 intronic rs12040340 TAS1R1 AU NM_138697 exon5 c.21697+41G>A 0.123203 0.13 0.104644 0.1168 0.1410 Uncertain 1_6646960_CCTGCCTTC->- 1 6646960 6646968 CCTGCCTTC - indel 7295.73 0/1 99 172 70 102 0.59 intronic rs374401991 ZBTB48 AU NM_001278648 exon5 c.6178+113_6178+121delCCTGCCTTC 0.670727 0.5843 0.7088 0.5852 Uncertain 1_6679848_C->T 1 6679848 6679848 C T snp 217.77 0/1 99 21 12 9 0.43 intronic rs2072948 PHF13 AU NM_153812 exon3 c.5736-14C>T 0.217652 0.1548 0.265846 0.2877 0.1570 Uncertain 1_6681375_C->T 1 6681375 6681375 C T snp 961.77 0/1 99 65 24 41 0.63 intronic rs6695474 PHF13 AU NM_153812 exon4 c.7344-95C>T 0.242013 0.1548 Uncertain 1_6681744_C->T 1 6681744 6681744 C T snp 858.77 0/1 99 52 24 28 0.54 UTR3 rs3747994 PHF13 AU 0.694688 0.5784 0.713033 0.6858 0.6144 Uncertain 1_6685442_A->G 1 6685442 6685442 A G snp 232.77 0/1 97 17 4 13 0.76 intronic rs12746591 THAP3 AU NM_138350 exon1 c.74+90A>G 0.685304 0.5813 Uncertain 1_6694927_C->T 1 6694927 6694927 C T snp 40.77 0/1 69 6 3 3 0.5 UTR3 rs2294532 DNAJC11 AU 0.300719 0.1895 Uncertain 1_6695802_A->G 1 6695802 6695802 A G snp 1513.77 0/1 99 136 72 64 0.47 intronic rs6577583 DNAJC11 AU NM_018198 exon1 c.26+42A>G 0.702476 0.6359 0.703906 0.6737 0.6360 Uncertain 1_6704635_A->G 1 6704635 6704635 A G snp 1887.77 0/1 99 198 113 85 0.43 exonic rs200458 DNAJC11 AU synonymous SNV NM_018198 exon10 c.T1080C p.G360G 0.833067 0.5704 0.899969 0.8836 0.5977 Uncertain 1_6713114_C->T 1 6713114 6713114 C T snp 165.77 0/1 99 40 31 9 0.23 intronic rs2235564 DNAJC11 AU NM_018198 exon11 c.17277+103C>T 0.324681 0.1776 Uncertain 1_6866978_G->A 1 6866978 6866978 G A snp 433.77 0/1 99 46 29 17 0.37 intronic rs660880 CAMTA1 AD NM_001242701 exon2 c.34650-13262G>A 0.3123 0.1111 Uncertain 1_7166332_G->A 1 7166332 7166332 G A snp 123.77 0/1 99 11 4 7 0.64 intronic rs72857584 CAMTA1 AD NM_015215 exon4 c.305841+14901G>A 0.137181 0.2798 Uncertain 1_7289606_T->G 1 7289606 7289606 T G snp 48.74 1/1 6 3 0 3 1.0 intronic rs6659573 CAMTA1 AD NM_015215 exon5 c.463960-19944T>G Uncertain 1_7289612_T->G 1 7289612 7289612 T G snp 86.28 1/1 9 4 0 4 1.0 intronic rs6659575 CAMTA1 AD NM_015215 exon5 c.463960-19938T>G Uncertain 1_7289619_G->A 1 7289619 7289619 G A snp 152.9 1/1 15 5 0 5 1.0 intronic rs6577423 CAMTA1 AD NM_015215 exon5 c.463960-19931G>A Uncertain 1_7289777_G->A 1 7289777 7289777 G A snp 151.77 0/1 99 43 34 9 0.21 intronic rs4243824 CAMTA1 AD NM_015215 exon5 c.463960-19773G>A 0.690895 0.6438 Uncertain 1_7527996_T->C 1 7527996 7527996 T C snp 2131.77 1/1 99 74 0 74 1.0 intronic rs1201529 CAMTA1 AD NM_015215 exon6 c.682371+35T>C 0.464058 0.2768 0.606566 0.4988 0.2715 Uncertain 1_7624855_G->T 1 7624855 7624855 G T snp 460.77 1/1 36 20 1 19 0.95 intronic rs17031140 CAMTA1 AD NM_015215 exon7 c.854869-75604G>T 0.239617 0.4028 Uncertain 1_7721951_C->T 1 7721951 7721951 C T snp 1623.77 0/1 99 117 52 65 0.56 intronic rs112532394 CAMTA1 AD NM_015215 exon8 c.876336+25C>T 0.110423 0.2312 0.032497 0.0990 0.3448 Uncertain 1_7723534_G->A 1 7723534 7723534 G A snp 3230.05 0/1 99 249 114 135 0.54 exonic rs3737907 CAMTA1 AD synonymous SNV NM_015215 exon9 c.G927A p.S309S 0.152955 0.2411 0.090574 0.1189 0.2544 Uncertain 1_7723957_G->A 1 7723957 7723957 G A snp 3407.77 0/1 99 250 131 119 0.48 exonic rs12128526 CAMTA1 AD synonymous SNV NM_015215 exon9 c.G1350A p.S450S 0.40016 0.3313 0.429955 0.4450 0.3479 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000116536.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 1_7724045_A->G 1 7724045 7724045 A G snp 3261.77 0/1 99 250 139 111 0.44 exonic rs138123146 CAMTA1 AD nonsynonymous SNV NM_015215 exon9 c.A1438G p.T480A 0.00199681 0.0099 0.0006 0.0086 0.32 T 0.986 N -1.055 T 0.0 T 0.001 T Pathogenic 1_7725309_C->T 1 7725309 7725309 C T snp 420.77 0/1 99 27 13 14 0.52 intronic rs76627442 CAMTA1 AD NM_015215 exon9 c.879669+50C>T 0.109625 0.25 0.026717 0.0785 0.2711 Uncertain 1_7737799_A->G 1 7737799 7737799 A G snp 2457.77 0/1 99 220 114 106 0.48 splicing rs3011926 CAMTA1 AD NM_015215 exon11 c.892203+6A>G 0.591653 0.6587 0.556282 0.5498 0.6461 Pathogenic 1_7792411_C->T 1 7792411 7792411 C T snp 327.77 0/1 99 22 10 12 0.55 intronic rs2301488 CAMTA1 AD NM_015215 exon12 c.946917-96C>T 0.455471 0.4365 Uncertain 1_7796641_A->G 1 7796641 7796641 A G snp 170.77 0/1 99 19 12 7 0.37 intronic rs2071985 CAMTA1 AD NM_015215 exon13 c.951010+41A>G 0.526757 0.5407 0.504844 0.5321 0.5157 Uncertain 1_7797734_T->A 1 7797734 7797734 T A snp 556.77 0/1 99 31 12 19 0.61 intronic rs1417986 CAMTA1 AD NM_015215 exon15 c.952040+104T>A 0.599241 0.5427 Uncertain 1_7807897_A->G 1 7807897 7807897 A G snp 1428.77 0/1 99 154 86 68 0.44 intronic rs12133253 CAMTA1 AD NM_015215 exon19 c.962251+56A>G 0.605831 0.4702 0.686378 Uncertain 1_7811014_G->A 1 7811014 7811014 G A snp 943.77 0/1 99 72 36 36 0.5 intronic rs1573753 CAMTA1 AD NM_015215 exon20 c.965668-244G>A 0.64357 0.4881 0.6501 0.5235 Uncertain 1_7811215_A->G 1 7811215 7811215 A G snp 2566.77 0/1 99 207 102 105 0.51 intronic rs10779689 CAMTA1 AD NM_015215 exon20 c.965668-43A>G 0.616014 0.4881 0.682685 0.6825 0.4856 Uncertain 1_7812398_A->G 1 7812398 7812398 A G snp 83.77 0/1 67 5 2 3 0.6 intronic rs9919223 CAMTA1 AD NM_015215 exon21 c.966928-120A>G 0.628594 0.4891 Uncertain 1_7826347_C->T 1 7826347 7826347 C T snp 50.74 1/1 6 2 0 2 1.0 intronic rs697672 CAMTA1 AD NM_015215 exon23 c.980928-171C>T 0.908147 0.9762 Uncertain 1_7831352_C->A 1 7831352 7831352 C A snp 1295.77 0/1 99 127 62 65 0.51 UTR5 rs72853889 VAMP3 AU 0.0932508 0.2698 Uncertain 1_7839405_G->T 1 7839405 7839405 G T snp 129.03 1/1 12 4 0 4 1.0 intronic rs697677 VAMP3 AU NM_004781 exon5 c.8242-280G>T 0.535743 0.5506 Uncertain 1_7845695_T->C 1 7845695 7845695 T C snp 393.77 0/1 99 33 20 13 0.39 intronic rs228729 PER3 AD NM_001289862 exon3 c.709+49T>C 0.724441 0.7619 0.689605 0.6871 0.7560 Uncertain 1_7847362_-->T 1 7847362 7847362 - T indel 132.87 1/1 15 5 0 5 1.0 intronic rs35115980 PER3 AD NM_001289862 exon4 c.1959+466insT 0.964257 1 Uncertain 1_7861304_T->C 1 7861304 7861304 T C snp 34.77 0/1 63 13 9 4 0.31 intronic rs707465 PER3 AD NM_001289862 exon8 c.16314+53T>C 0.446885 0.5288 0.402766 Uncertain 1_7861345_G->A 1 7861345 7861345 G A snp 127.78 0/1 25 6 1 5 0.83 intronic rs488728 PER3 AD NM_001289862 exon8 c.16314+94G>A 0.525559 0.4722 Uncertain 1_7863736_TTA->- 1 7863736 7863738 TTA - indel 2769.73 0/1 99 82 28 54 0.66 intronic rs149164395 PER3 AD NM_001289864 exon10 c.560-15_560-13delTTA 0.096845 0.2728 0.051063 0.1033 0.3240 Uncertain 1_7864030_G->A 1 7864030 7864030 G A snp 113.77 0/1 99 9 5 4 0.44 intronic rs12566042 PER3 AD NM_001289864 exon10 c.717+122G>A 0.0972444 0.2728 Uncertain 1_7868734_G->A 1 7868734 7868734 G A snp 40.77 0/1 33 3 1 2 0.67 intronic PER3 AD NM_001289864 exon11 c.5761-218G>A Uncertain 1_7869915_G->C 1 7869915 7869915 G C snp 2737.77 1/1 99 100 0 100 1.0 intronic rs228668 PER3 AD NM_001289864 exon12 c.6761-37G>C 0.976238 1 0.961692 0.9693 0.9998 Uncertain 1_7870048_T->C 1 7870048 7870048 T C snp 1111.77 0/1 99 97 51 46 0.47 exonic rs228669 PER3 AD synonymous SNV NM_016831 exon12 c.T1335C p.S445S 0.878994 0.7232 0.937414 0.8916 0.7226 Uncertain 1_7870144_A->C 1 7870144 7870144 A C snp 1359.77 1/1 96 49 0 49 1.0 intronic rs228670 PER3 AD NM_001289864 exon12 c.6890+63A>C 0.976238 1 Uncertain 1_7870715_A->C 1 7870715 7870715 A C snp 353.77 0/1 99 23 9 14 0.61 intronic rs79372391 PER3 AD NM_001289864 exon13 c.7457+67A>C 0.0976438 0.2768 Uncertain 1_7880469_A->G 1 7880469 7880469 A G snp 146.77 0/1 99 13 7 6 0.46 intronic rs228691 PER3 AD NM_001289864 exon16 c.17335-57A>G 0.552915 0.4722 Uncertain 1_7886424_G->A 1 7886424 7886424 G A snp 132.77 0/1 99 15 9 6 0.4 intronic rs697693 PER3 AD NM_001289864 exon17 c.23348-115G>A 0.317692 0.4851 Uncertain 1_7887248_G->A 1 7887248 7887248 G A snp 3212.77 1/1 99 116 1 115 0.99 exonic rs2859387 PER3 AD synonymous SNV NM_016831 exon18 c.G2235A p.P745P 0.516773 0.8026 0.406483 0.4343 0.8044 Uncertain 1_7887404_C->T 1 7887404 7887404 C T snp 2354.77 0/1 99 205 106 99 0.48 exonic rs35733104 PER3 AD synonymous SNV NM_016831 exon18 c.C2391T p.Y797Y 0.0161741 0.0764 0.000846 0.0089 0.0900 Uncertain 1_7887493_T->C 1 7887493 7887493 T C snp 7445.77 1/1 99 250 0 250 1.0 exonic rs228696 PER3 AD nonsynonymous SNV NM_016831 exon18 c.T2480C p.L827P 0.97524 1 0.961018 0.9688 0.9990 1 T 0.0 P -0.965 T 0.0 T 0.001 T Pathogenic 1_7887605_G->A 1 7887605 7887605 G A snp 3548.77 0/1 99 249 123 126 0.51 exonic rs17031614 PER3 AD synonymous SNV NM_016831 exon18 c.G2592A p.S864S 0.0964457 0.2728 0.024220 0.0775 0.2748 Uncertain 1_7889804_C->G 1 7889804 7889804 C G snp 2439.77 1/1 99 78 0 78 1.0 intronic rs228701 PER3 AD NM_001289862 exon19 c.44956-89C>G 0.700479 0.8522 Uncertain 1_7889941_C->T 1 7889941 7889941 C T snp 3711.77 0/1 99 246 119 127 0.52 exonic rs2640908 PER3 AD synonymous SNV NM_016831 exon19 c.C2907T p.T969T 0.304313 0.4851 0.226895 0.2269 0.4956 Uncertain 1_7890010_A->G 1 7890010 7890010 A G snp 52.77 0/1 81 215 188 27 0.13 exonic rs11576985 PER3 AD synonymous SNV NM_016831 exon19 c.A2976G p.T992T 0.000798722 ID=COSM1126941;OCCURENCE=1(prostate) Uncertain 1_7890013_A->G 1 7890013 7890013 A G snp 98.77 0/1 99 213 188 25 0.12 exonic PER3 AD synonymous SNV NM_016831 exon19 c.A2979G p.G993G 1 N Uncertain 1_7890016_G->A 1 7890016 7890016 G A snp 684.77 0/1 99 236 185 51 0.22 exonic rs12749159 PER3 AD synonymous SNV NM_016831 exon19 c.G2982A p.S994S Uncertain 1_7890024_T->G 1 7890024 7890024 T G snp 1617.77 0/1 99 241 162 79 0.33 exonic rs201662971 PER3 AD nonsynonymous SNV NM_016831 exon19 c.T2990G p.M997R 8.727e-06 0 0.65 T 1 N -1.014 T 0.0 T 0.0 T Pathogenic 1_7890026_A->G 1 7890026 7890026 A G snp 1804.77 0/1 99 242 160 82 0.34 exonic rs199947375 PER3 AD nonsynonymous SNV NM_016831 exon19 c.A2992G p.K998E 1 T 1 N -1.010 T 0.0 T 0.0 T Pathogenic 1_7890264_A->G 1 7890264 7890264 A G snp 4495.77 1/1 99 149 0 149 1.0 intronic rs1773135 PER3 AD NM_001289864 exon19 c.27030+43A>G 0.700879 0.8522 0.650161 0.6829 0.8537 Uncertain 1_7906476_G->T 1 7906476 7906476 G T snp 4336.77 1/1 99 164 1 163 0.99 intergenic rs172932 PER3 AD 0.976238 1 0.9720 1 Uncertain 1_7906958_-->AGAA 1 7906958 7906958 - AGAA indel 1342.73 0/1 99 54 22 32 0.59 downstream rs573961948 UTS2 AU 0.0972444 0.2738 Uncertain 1_7907007_G->A 1 7907007 7907007 G A snp 150.77 0/1 99 10 5 5 0.5 downstream rs697694 UTS2 AU 0.43131 0.5268 Uncertain 1_7909737_C->T 1 7909737 7909737 C T snp 628.77 0/1 99 75 47 28 0.37 exonic rs2890565 UTS2 AU nonsynonymous SNV NM_021995 exon4 c.G266A p.S89N 0.112819 0.2808 0.036764 0.0830 0.2816 0.27 T 0.0 P -1.002 T 0.557 P 0.215 P ID=CM032391;DIS=Reduced insulin sensitivity, association with;TAG=DP;PUB=12830381 DP Pathogenic 1_7998963_T->G 1 7998963 7998963 T G snp 2466.77 1/1 99 91 0 91 1.0 intronic rs226476 TNFRSF9 AU NM_001561 exon6 c.17994+75T>G 0.988019 1 Uncertain 1_8029494_T->G 1 8029494 8029494 T G snp 1795.77 1/1 99 70 0 70 1.0 intronic rs2641116 PARK7 AR NM_007262 exon4 c.6619+30T>G 0.316094 0.6538 0.199446 0.2673 0.6541 Uncertain 1_8029509_G->A 1 8029509 8029509 G A snp 1320.9 0/1 15 60 5 55 0.92 intronic rs2640906 PARK7 AR NM_007262 exon4 c.6619+45G>A 0.332268 0.6508 0.2463 0.6259 Uncertain 1_8029510_G->A 1 8029510 8029510 G A snp 1413.77 1/1 31 60 2 58 0.97 intronic rs2641117 PARK7 AR NM_007262 exon4 c.6619+46G>A 0.46865 0.6528 0.2860 0.6370 Uncertain 1_8031054_G->A 1 8031054 8031054 G A snp 1206.77 1/1 87 44 0 44 1.0 intronic rs389298 PARK7 AR NM_007262 exon5 c.8178+31G>A 0.171126 0.5863 0.018299 0.0900 0.5775 Uncertain 1_8031300_G->A 1 8031300 8031300 G A snp 54.74 1/1 6 2 0 2 1.0 intronic rs534623362 PARK7 AR NM_007262 exon5 c.8178+277G>A 0.000599042 0.003 Uncertain 1_8037850_C->T 1 8037850 8037850 C T snp 179.77 0/1 99 15 9 6 0.4 intronic rs190696182 PARK7 AR NM_007262 exon6 c.14953+52C>T 0.000599042 0.003 0.0001 0.0016 Uncertain 1_8384268_T->C 1 8384268 8384268 T C snp 2015.77 1/1 99 70 0 70 1.0 intronic rs6702047 SLC45A1 AU NM_001080397 exon2 c.6197-97T>C 0.972444 1 Uncertain 1_8390213_G->A 1 8390213 8390213 G A snp 516.77 1/1 39 16 0 16 1.0 intronic rs2289730 SLC45A1 AU NM_001080397 exon5 c.12100-55G>A 0.0541134 0.2202 Uncertain 1_8390495_A->G 1 8390495 8390495 A G snp 2743.77 1/1 99 91 0 91 1.0 exonic rs1058619 SLC45A1 AU synonymous SNV NM_001080397 exon5 c.A1044G p.P348P 0.776358 0.8482 0.743639 0.7693 0.8524 Uncertain 1_8397803_C->T 1 8397803 8397803 C T snp 1878.77 1/1 99 63 0 63 1.0 intronic rs7520373 SLC45A1 AU NM_001080397 exon7 c.19707-72C>T 0.313698 0.6438 Uncertain 1_8404169_T->A 1 8404169 8404169 T A snp 541.77 1/1 42 16 0 16 1.0 UTR3 rs6685844 SLC45A1 AU 0.996605 1 Uncertain 1_8418644_C->A 1 8418644 8418644 C A snp 2816.77 1/1 99 102 0 102 1.0 exonic rs11121172 RERE AD synonymous SNV NM_012102 exon21 c.G3951T p.R1317R 0.797524 0.8978 0.730781 0.7221 0.8888 Uncertain 1_8418650_T->C 1 8418650 8418650 T C snp 2931.77 1/1 99 107 0 107 1.0 exonic rs1058766 RERE AD synonymous SNV NM_012102 exon21 c.A3945G p.R1315R 0.80012 0.8998 0.733863 0.7225 0.8889 Uncertain 1_8418920_A->G 1 8418920 8418920 A G snp 580.77 0/1 99 44 18 26 0.59 exonic rs12047953 RERE AD synonymous SNV NM_012102 exon21 c.T3675C p.P1225P 0.0107827 0.0496 0.0053 0.0623 ID=COSM1627208;OCCURENCE=1(liver) Uncertain 1_8421092_C->T 1 8421092 8421092 C T snp 1699.77 1/1 99 69 0 69 1.0 exonic rs2784735 RERE AD synonymous SNV NM_012102 exon19 c.G2475A p.P825P 0.457867 0.8353 0.327534 0.5310 0.8678 Uncertain 1_8421203_T->C 1 8421203 8421203 T C snp 1414.77 1/1 99 52 0 52 1.0 exonic rs13596 RERE AD synonymous SNV NM_012102 exon19 c.A2364G p.P788P 0.79992 0.9206 0.729167 0.7516 0.9204 Uncertain 1_8422676_T->C 1 8422676 8422676 T C snp 1908.77 1/1 99 66 0 66 1.0 intronic rs2252865 RERE AD NM_001042681 exon8 c.7596-66T>C 0.798123 0.9196 Uncertain 1_8424985_A->- 1 8424985 8424985 A - indel 293.75 1/1 24 8 0 8 1.0 intronic rs34269918 RERE AD NM_001042681 exon10 c.9752+87delA 0.771965 0.9177 Uncertain 1_8525615_C->T 1 8525615 8525615 C T snp 180.9 1/1 15 5 0 5 1.0 intronic rs11589090 RERE AD NM_001042681 exon13 c.110838-369C>T 0.126597 0.0833 Uncertain 1_8526142_G->A 1 8526142 8526142 G A snp 271.77 0/1 99 28 15 13 0.46 intronic rs4908760 RERE AD NM_001042681 exon13 c.110937+59G>A 0.690695 0.8304 Uncertain 1_8557320_C->G 1 8557320 8557320 C G snp 77.77 0/1 99 8 4 4 0.5 intronic rs7518608 RERE AD NM_001042681 exon15 c.142318-144C>G 0.596645 0.8333 Uncertain 1_8557691_A->C 1 8557691 8557691 A C snp 308.77 0/1 99 23 11 12 0.52 intronic rs7530745 RERE AD NM_001042681 exon15 c.142443+102A>C 0.694289 0.8323 Uncertain 1_8616404_C->A 1 8616404 8616404 C A snp 510.77 0/1 99 36 16 20 0.56 intronic rs12122737 RERE AD NM_001042681 exon18 c.201387-129C>A 0.180711 0.1032 Uncertain 1_8716322_TCTTTG->- 1 8716322 8716327 TCTTTG - indel 868.73 0/1 99 34 15 19 0.56 exonic rs3831914 RERE AD nonframeshift deletion NM_012102 exon3 c.30_35del p.10_12del 0.0229633 0.0536 0.012390 0.0197 0.0514 ID=COSM1474231;OCCURENCE=1(breast) Uncertain 1_8926285_-->G 1 8926285 8926285 - G indel 621.73 0/1 99 43 23 20 0.47 intronic rs3831913 ENO1 AU NM_001201483 exon6 c.4919-52insG 0.31889 0.1706 Uncertain 1_8926752_T->C 1 8926752 8926752 T C snp 291.78 1/1 24 8 0 8 1.0 intronic rs2781065 ENO1 AU NM_001201483 exon6 c.5142+192T>C 0.825879 0.9167 Uncertain 1_8928125_G->T 1 8928125 8928125 G T snp 1348.77 0/1 99 97 44 53 0.55 intronic rs2071412 ENO1 AU NM_001201483 exon8 c.6698+9G>T 0.34345 0.7401 0.227741 0.3178 0.7480 Uncertain 1_8930369_T->C 1 8930369 8930369 T C snp 691.77 1/1 51 22 0 22 1.0 intronic rs2781060 ENO1 AU NM_001201483 exon9 c.9092-141T>C 0.782149 0.9157 Uncertain 1_8930385_G->A 1 8930385 8930385 G A snp 940.77 1/1 69 31 0 31 1.0 intronic rs2765511 ENO1 AU NM_001201483 exon9 c.9092-125G>A 0.781749 0.9137 Uncertain 1_8935149_A->G 1 8935149 8935149 A G snp 1601.77 1/1 99 47 0 47 1.0 intronic rs2038904 ENO1 AU NM_001428 exon11 c.13558+173A>G 0.84984 0.9147 Uncertain 1_9011292_AG->- 1 9011292 9011293 AG - indel 167.8 1/1 18 6 0 6 1.0 intronic rs200065733 CA6 AU NM_001270500 exon2 c.3556+1791_3556+1792delAG 0.220447 0.2718 Uncertain 1_9011586_T->G 1 9011586 9011586 T G snp 5239.77 1/1 99 190 0 190 1.0 intronic rs3765968 CA6 AU NM_001270500 exon2 c.3556+2085T>G 0.650359 0.7014 0.659400 0.6239 0.7110 1 T 0.0 P -0.917 T Uncertain 1_9011722_G->T 1 9011722 9011722 G T snp 1860.77 1/1 99 66 2 64 0.97 intronic rs3765966 CA6 AU NM_001270500 exon2 c.3556+2221G>T 0.723243 0.8036 0.704046 0.6596 0.8057 0.21 T 0.0 P -1.051 T Uncertain 1_9017204_A->G 1 9017204 9017204 A G snp 1176.77 0/1 99 106 56 50 0.47 exonic rs2274333 CA6 AU nonsynonymous SNV NM_001215 exon3 c.A268G p.S90G 0.34385 0.5575 0.249808 0.3317 0.5606 0.13 T 0.001 P -1.003 T 0.984 D 0.789 D ID=CM065045;DIS=Colorectal cancer, increased risk, association with;TAG=DP;PUB=17000706 DP Pathogenic 1_9027899_G->T 1 9027899 9027899 G T snp 1243.77 0/1 99 101 49 52 0.51 intronic rs2274334 CA6 AU NM_001270500 exon6 c.21930+24G>T 0.0349441 0.0079 0.038905 0.0564 0.0136 Uncertain 1_9034301_T->C 1 9034301 9034301 T C snp 1594.77 0/1 99 141 72 69 0.49 intronic rs72641578 CA6 AU NM_001270500 exon8 c.28460-104T>C 0.114617 0.1349 Uncertain 1_9034798_T->C 1 9034798 9034798 T C snp 1801.77 0/1 99 159 84 75 0.47 UTR3 rs113261721 CA6 AU 0.0135783 0.0089 0.008768 0.0060 0.0095 Uncertain 1_9034815_-->AGA 1 9034815 9034815 - AGA indel 3088.73 0/1 99 134 64 70 0.52 UTR3 rs35753212 CA6 AU 0.748003 0.8165 0.625080 0.6038 0.8275 Uncertain 1_9034972_C->A 1 9034972 9034972 C A snp 46.77 0/1 33 3 1 2 0.67 UTR3 rs3737664 CA6 AU 0.0313498 0.0139 Uncertain 1_9063602_G->C 1 9063602 9063602 G C snp 1001.77 0/1 99 80 41 39 0.49 intronic rs4908804 SLC2A7 AU NM_207420 exon1 c.219+25G>C 0.503395 0.7063 0.422036 0.5005 0.7121 Uncertain 1_9063646_T->C 1 9063646 9063646 T C snp 265.77 0/1 99 32 23 9 0.28 intronic rs4908805 SLC2A7 AU NM_207420 exon1 c.219+69T>C 0.46865 0.6429 Uncertain 1_9070178_A->G 1 9070178 9070178 A G snp 3251.77 1/1 99 124 0 124 1.0 intronic rs67090552 SLC2A7 AU NM_207420 exon4 c.6843-23A>G 0.18111 0.2569 0.098963 0.1331 0.2576 Uncertain 1_9073801_C->T 1 9073801 9073801 C T snp 828.77 1/1 60 29 0 29 1.0 intronic rs7537425 SLC2A7 AU NM_207420 exon5 c.10336+107C>T 0.424321 0.5585 Uncertain 1_9074932_G->A 1 9074932 9074932 G A snp 633.77 1/1 48 19 0 19 1.0 splicing rs1556757 SLC2A7 AU NM_207420 exon6 c.11569+5G>A 0.446486 0.5437 0.401125 0.4671 0.5753 Pathogenic 1_9079154_C->T 1 9079154 9079154 C T snp 288.77 0/1 99 22 12 10 0.45 intronic rs12031065 SLC2A7 AU NM_207420 exon9 c.15909-113C>T 0.396965 0.4087 Uncertain 1_9079365_G->A 1 9079365 9079365 G A snp 1701.77 0/1 99 152 80 72 0.47 exonic rs10864379 SLC2A7 AU synonymous SNV NM_207420 exon4 c.C339T p.I113I 0.0846645 0.1885 0.031678 0.0355 0.1824 Uncertain 1_9084924_T->C 1 9084924 9084924 T C snp 3044.77 1/1 99 95 0 95 1.0 intronic rs2027222 SLC2A7 AU NM_207420 exon11 c.21676-110T>C 0.817093 0.9563 Uncertain 1_9085006_-->GCCCACCTTGT 1 9085006 9085006 - GCCCACCTTGT indel 19220.7 1/1 99 217 0 217 1.0 intronic rs148146441 SLC2A7 AU NM_207420 exon11 c.21676-28insGCCCACCTTGT 0.211062 0.4464 0.1511 0.4436 Uncertain 1_9085279_C->T 1 9085279 9085279 C T snp 141.77 0/1 94 8 3 5 0.63 intronic rs12072306 SLC2A7 AU NM_207420 exon11 c.21775+146C>T 0.169728 0.2887 Uncertain 1_9107849_G->T 1 9107849 9107849 G T snp 2065.77 0/1 99 130 51 79 0.61 intronic rs3737661 SLC2A5 AU NM_001135585 exon2 c.6114+56G>T 0.145767 0.3125 Uncertain 1_9117371_A->G 1 9117371 9117371 A G snp 230.88 0/1 16 8 1 7 0.88 intronic rs11121310 SLC2A5 AU NM_001135585 exon3 c.15827-135A>G Uncertain 1_9118423_C->T 1 9118423 9118423 C T snp 1218.77 0/1 99 92 42 50 0.54 intronic rs17842190 SLC2A5 AU NM_001135585 exon4 c.16630+114C>T 0.0501198 0.125 Uncertain 1_9165868_A->G 1 9165868 9165868 A G snp 303.78 1/1 24 9 0 9 1.0 intronic rs1705303 GPR157 AU NM_024980 exon2 c.1262+129A>G 1 1 Uncertain 1_9306849_T->C 1 9306849 9306849 T C snp 295.77 0/1 99 20 11 9 0.45 intronic rs2310925 H6PD AR NM_004285 exon3 c.2031-175T>C 0.505791 0.4792 Uncertain 1_9307033_G->A 1 9307033 9307033 G A snp 2876.77 0/1 99 250 125 125 0.5 exonic rs7524046 H6PD AR synonymous SNV NM_004285 exon3 c.G636A p.A212A 0.222644 0.4038 0.211595 0.2235 0.4218 Uncertain 1_9307138_T->C 1 9307138 9307138 T C snp 1878.77 0/1 99 187 105 82 0.44 exonic rs11121350 H6PD AR synonymous SNV NM_004285 exon3 c.T741C p.A247A 0.275759 0.4196 0.261033 0.2390 0.4413 Uncertain 1_9307230_T->A 1 9307230 9307230 T A snp 284.77 0/1 99 46 33 13 0.28 intronic rs12032814 H6PD AR NM_004285 exon3 c.2149+88T>A 0.250799 0.4067 CLINSIG=probable-pathogenic;CLNDBN=not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000171451.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Uncertain 1_9323457_G->C 1 9323457 9323457 G C snp 255.77 0/1 99 17 8 9 0.53 intronic rs731183 H6PD AR NM_004285 exon5 c.18574-110G>C 0.193291 0.2758 Uncertain 1_9323910_G->A 1 9323910 9323910 G A snp 3694.77 0/1 99 249 110 139 0.56 exonic rs6688832 H6PD AR nonsynonymous SNV NM_004285 exon5 c.G1358A p.R453Q 0.389577 0.4812 0.306628 0.2851 0.4645 0.49 T 0.0 P -0.989 T 0.001 T 0.001 T CLINSIG=unknown;CLNDBN=Cortisone_reductase_deficiency_1;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000017511.1;CLNDSDB=MedGen:OMIM:Orphanet;CLNDSDBID=C3551716:604931:ORPHA168588 ID=CM031993;DIS=Cortisone reductase deficiency, partial;TAG=FP;PUB=12858176 FP Pathogenic 1_9658465_T->G 1 9658465 9658465 T G snp 3602.77 1/1 99 129 0 129 1.0 intronic rs9430181 TMEM201 AU NM_001010866 exon4 c.9518-41T>G 0.773762 0.7212 0.790866 0.8129 0.7235 Uncertain 1_9658707_G->A 1 9658707 9658707 G A snp 1709.77 1/1 99 61 0 61 1.0 intronic rs9430182 TMEM201 AU NM_001010866 exon4 c.9695+24G>A 0.746406 0.6964 0.788699 0.7963 0.7018 Uncertain 1_9661061_A->G 1 9661061 9661061 A G snp 1240.77 1/1 90 39 0 39 1.0 intronic rs9430184 TMEM201 AU NM_001010866 exon5 c.12174-101A>G 0.769169 0.7212 Uncertain 1_9670483_T->A 1 9670483 9670483 T A snp 2155.77 1/1 99 74 0 74 1.0 intronic rs4244632 TMEM201 AU NM_001130924 exon9 c.21575-80T>A 0.794529 0.6736 Uncertain 1_9670834_C->T 1 9670834 9670834 C T snp 1293.77 1/1 96 43 0 43 1.0 exonic rs4926472 TMEM201 AU nonsynonymous SNV NM_001130924 exon9 c.C1736T p.P579L 0.671126 0.6468 0.730837 0.7540 0.6272 0.15 T 0.0 P -0.977 T 0.007 T 0.004 T Pathogenic 1_9671258_T->- 1 9671258 9671258 T - indel 643.82 0/1 17 84 9 75 0.89 intronic rs397979148 TMEM201 AU NM_001130924 exon9 c.21875+395delT 0.786342 0.6756 Uncertain 1_9672091_G->A 1 9672091 9672091 G A snp 56.74 1/1 6 2 0 2 1.0 intronic rs4073293 TMEM201 AU NM_001130924 exon10 c.22960+143G>A 0.671925 0.6458 Uncertain 1_9714177_G->A 1 9714177 9714177 G A snp 1056.77 1/1 81 35 0 35 1.0 ncRNA_intronic rs7511971 PIK3CD-AS1 AU 0.438498 0.6478 Uncertain 1_9714539_T->- 1 9714539 9714539 T - indel 651.73 1/1 69 36 0 36 1.0 ncRNA_exonic rs779016016 PIK3CD-AS1 AU 0.0068 0.0019 Uncertain 1_9714540_-->AGGCCAGACC 1 9714540 9714540 - AGGCCAGACC indel 2593.73 1/1 69 23 0 23 1.0 ncRNA_exonic rs746695161 PIK3CD-AS1 AU 1.681e-05 0 Uncertain 1_9714542_G->C 1 9714542 9714542 G C snp 688.77 1/1 51 23 0 23 1.0 ncRNA_exonic rs201016347 PIK3CD-AS1 AU 6.85e-05 0 Uncertain 1_9714544_A->G 1 9714544 9714544 A G snp 689.77 1/1 51 23 0 23 1.0 ncRNA_exonic rs201683448 PIK3CD-AS1 AU 1.038e-05 0 Uncertain 1_9792105_-->A 1 9792105 9792105 - A indel 260.73 1/1 31 12 0 12 1.0 intronic rs377673198 CLSTN1 AU NM_001009566 exon3 c.1389+151insA 0.999002 0.999 Uncertain 1_9795502_G->A 1 9795502 9795502 G A snp 2629.77 0/1 99 196 88 108 0.55 intronic rs186522675 CLSTN1 AU NM_001009566 exon7 c.4959-22G>A 0.000399361 0.002 0.000154 0.0002 0.0016 Uncertain 1_9816620_T->C 1 9816620 9816620 T C snp 4508.77 1/1 99 167 0 167 1.0 intronic rs6680090 CLSTN1 AU NM_001009566 exon17 c.26003+52T>C 0.982228 0.999 0.967254 0.9673 0.9979 Uncertain 1_10001236_TTCG->- 1 10001236 10001239 TTCG - indel 2457.73 1/1 99 53 0 53 1.0 intronic rs137978085 LZIC AU NM_032368 exon7 c.12225-1445_12225-1442delTTCG 0.510184 0.6101 Uncertain 1_10027540_G->A 1 10027540 10027540 G A snp 1589.77 1/1 99 55 0 55 1.0 intronic rs2890358 NMNAT1 AR 0.530751 0.6091 0.9167 . Uncertain 1_10027646_A->G 1 10027646 10027646 A G snp 182.9 1/1 15 5 0 5 1.0 intronic rs2380188 NMNAT1 AR 0.724241 0.8413 Uncertain 1_10335315_G->A 1 10335315 10335315 G A snp 649.77 1/1 48 22 0 22 1.0 intronic rs6685773 KIF1B AD,AO NM_183416 exon10 c.43099-170G>A 0.998403 1 Uncertain 1_10471760_C->T 1 10471760 10471760 C T snp 1095.77 0/1 99 75 35 40 0.53 intronic rs2236677 PGD AU NM_001304451 exon6 c.12435+151C>T 0.0299521 0.1042 Uncertain 1_10502308_T->- 1 10502308 10502308 T - indel 601.73 1/1 58 22 1 21 0.95 intronic rs33919161 APITD1 AU NM_199294 exon5 c.11747-13delT 0.840855 0.8641 0.892440 0.8880 0.8400 Uncertain 1_10510047_C->T 1 10510047 10510047 C T snp 261.77 0/1 99 18 9 9 0.5 UTR5 CORT AU Uncertain 1_10511544_C->T 1 10511544 10511544 C T snp 1888.77 1/1 99 71 0 71 1.0 exonic rs628462 APITD1-CORT AU synonymous SNV NM_001302 exon2 c.C210T p.A70A 0.28754 0.4871 0.289660 0.3679 0.4906 Uncertain 1_10511589_T->C 1 10511589 10511589 T C snp 1528.77 1/1 99 56 0 56 1.0 exonic rs666103 APITD1-CORT AU synonymous SNV NM_001302 exon2 c.T255C p.S85S 0.867612 0.8591 0.926912 0.8965 0.8237 Uncertain 1_10529194_T->C 1 10529194 10529194 T C snp 1334.77 1/1 96 46 0 46 1.0 intronic rs2781233 DFFA AU NM_004401 exon5 c.7687-39T>C 0.364417 0.4732 0.414424 0.4673 0.4758 Uncertain 1_10555257_C->T 1 10555257 10555257 C T snp 3503.77 1/1 99 121 0 121 1.0 intronic rs622623 PEX14 AU NM_004565 exon2 c.20307-73C>T 0.646965 0.8095 0.636224 Uncertain 1_10596388_A->G 1 10596388 10596388 A G snp 1504.77 1/1 99 48 0 48 1.0 intronic rs2480779 PEX14 AU NM_004565 exon3 c.61331+34A>G 0.952676 1 0.958404 0.9878 1 Uncertain 1_10678655_T->C 1 10678655 10678655 T C snp 570.77 1/1 45 16 0 16 1.0 intronic rs284236 PEX14 AU NM_004565 exon5 c.143451+181T>C 0.998602 1 Uncertain 1_10713068_G->A 1 10713068 10713068 G A snp 151.77 0/1 99 16 9 7 0.44 intronic rs191911595 CASZ1 AU NM_001079843 exon11 c.14435-365G>A 0.00159744 0.0079 0 0 Uncertain 1_11007607_G->A 1 11007607 11007607 G A snp 86.78 0/1 24 4 1 3 0.75 intronic rs79148745 C1orf127 AU 0.00638978 0.0317 Uncertain 1_11008497_G->C 1 11008497 11008497 G C snp 4812.77 1/1 99 166 0 166 1.0 exonic rs1281017 C1orf127 AU synonymous SNV NM_001170754 exon12 c.C1695G p.G565G 0.32488 0.2371 0.231124 0.2661 0.2559 0.0 P -0.943 T Likely benign 1_11008695_T->C 1 11008695 11008695 T C snp 2003.77 1/1 99 59 0 59 1.0 exonic rs17036032 C1orf127 AU synonymous SNV NM_001170754 exon12 c.A1497G p.P499P 0.211861 0.2321 0.110411 0.2041 0.2481 0.000 P -0.953 T Likely benign 1_11014118_C->T 1 11014118 11014118 C T snp 6235.77 1/1 99 245 0 245 1.0 exonic rs45537241 C1orf127 AU nonsynonymous SNV NM_001170754 exon10 c.G1057A p.A353T 0.219449 0.2331 0.125711 0.2116 0.2479 0.43 T 0.0 P -1.010 T 0.009 T 0.01 T Pathogenic 1_11015165_A->G 1 11015165 11015165 A G snp 1495.77 1/1 70 58 2 56 0.97 exonic rs75130475 C1orf127 AU nonsynonymous SNV NM_001170754 exon9 c.T857C p.I286T 0.228235 0.2341 0.134246 0.2138 0.2480 0.59 T 0.0 P -1.005 T 0.397 T 0.086 T Pathogenic 1_11015325_C->T 1 11015325 11015325 C T snp 1031.77 1/1 75 33 0 33 1.0 intronic rs41274492 C1orf127 AU NM_001170754 exon5 c.7524+82C>T 0.219449 0.2331 Uncertain 1_11017022_-->AG 1 11017022 11017022 - AG indel 3024.73 1/1 99 62 0 62 1.0 intronic rs149410406 C1orf127 AU NM_001170754 exon6 c.9360-57insAG 0.230032 0.2371 0.128278 Uncertain 1_11017609_T->C 1 11017609 11017609 T C snp 553.77 1/1 42 20 0 20 1.0 intronic rs7511959 C1orf127 AU NM_001170754 exon7 c.9953-63T>C 0.415535 0.2381 0.334307 0.2985 0.2523 Uncertain 1_11017617_G->C 1 11017617 11017617 G C snp 708.77 1/1 54 23 0 23 1.0 intronic rs34691090 C1orf127 AU NM_001170754 exon7 c.9953-55G>C 0.301717 0.2371 0.218822 0.2668 0.2504 Uncertain 1_11017634_C->T 1 11017634 11017634 C T snp 984.77 1/1 72 37 0 37 1.0 intronic rs35950437 C1orf127 AU NM_001170754 exon7 c.9953-38C>T 0.299321 0.2371 0.215977 0.2659 0.2475 Uncertain 1_11018723_A->G 1 11018723 11018723 A G snp 4371.77 1/1 99 161 0 161 1.0 intronic rs60676743 C1orf127 AU NM_001170754 exon8 c.11051-47A>G 0.242013 0.2282 0.156928 0.2503 0.2422 Uncertain 1_11024353_A->G 1 11024353 11024353 A G snp 3029.77 0/1 99 245 120 125 0.51 intronic rs6659231 C1orf127 AU NM_001170754 exon9 c.16609+25A>G 0.442692 0.4236 0.324354 0.4004 0.4701 Uncertain 1_11024381_A->G 1 11024381 11024381 A G snp 2446.77 0/1 99 196 96 100 0.51 intronic rs6659326 C1orf127 AU NM_001170754 exon9 c.16609+53A>G 0.547524 0.4385 Uncertain 1_11024395_T->C 1 11024395 11024395 T C snp 1995.77 0/1 99 159 81 78 0.49 intronic rs11121663 C1orf127 AU NM_001170754 exon9 c.16609+67T>C 0.394169 0.4206 Uncertain 1_11079077_A->G 1 11079077 11079077 A G snp 687.77 1/1 54 18 0 18 1.0 intronic rs2273348 TARDBP AD NM_007375 exon4 c.5146+147A>G 0.585863 0.6687 Uncertain 1_11080723_-->G 1 11080723 11080723 - G indel 1874.73 1/1 99 51 0 51 1.0 intronic rs143130606 TARDBP AD NM_007375 exon5 c.6872+67insG 0.915335 0.9226 Uncertain 1_11082055_G->- 1 11082055 11082055 G - indel 189.87 1/1 15 5 0 5 1.0 intronic rs3835416 TARDBP AD NM_007375 exon6 c.8396-125delG 0.584465 0.6657 Uncertain 1_11086097_-->T 1 11086097 11086097 - T indel 4247.73 1/1 99 103 0 103 1.0 downstream rs3215616 MASP2 AR 0.586262 0.6667 Uncertain 1_11087524_G->A 1 11087524 11087524 G A snp 7255.77 1/1 99 250 0 250 1.0 exonic rs1782455 MASP2 AR synonymous SNV NM_006610 exon11 c.C1479T p.S493S 0.6875 0.8651 0.673151 0.7855 0.8675 Uncertain 1_11087835_T->C 1 11087835 11087835 T C snp 895.77 1/1 66 28 0 28 1.0 intronic rs1782454 MASP2 AR NM_006610 exon1 c.764+130T>C 0.83726 0.8671 Uncertain 1_11090916_C->A 1 11090916 11090916 C A snp 2894.77 1/1 99 93 0 93 1.0 exonic rs12711521 MASP2 AR nonsynonymous SNV NM_006610 exon9 c.G1111T p.D371Y 0.58127 0.6657 0.629786 0.7359 0.6551 0.04 T 1.000 P -1.010 T 0.748 T 0.566 P ID=CM117552;DIS=HCV infection, susceptibility to;TAG=DP;PUB=21843573 DP Pathogenic 1_11095039_C->T 1 11095039 11095039 C T snp 475.77 1/1 36 16 0 16 1.0 intronic rs6695096 MASP2 AR NM_006610 exon4 c.8022+76C>T 0.842452 0.8661 Uncertain 1_11104845_T->C 1 11104845 11104845 T C snp 1057.77 1/1 78 36 0 36 1.0 intronic rs9430347 MASP2 AR NM_006610 exon8 c.18523-619T>C 0.846246 0.8839 Uncertain 1_11105106_C->T 1 11105106 11105106 C T snp 2049.77 1/1 99 75 1 74 0.99 intronic rs2273345 MASP2 AR NM_139208 exon1 c.14+96C>T 0.577476 0.7698 Uncertain 1_11105122_C->T 1 11105122 11105122 C T snp 2138.77 1/1 99 79 0 79 1.0 intronic rs2273344 MASP2 AR NM_139208 exon1 c.14+112C>T 0.84345 0.8819 Uncertain 1_11119135_G->A 1 11119135 11119135 G A snp 50.74 1/1 6 2 0 2 1.0 intronic rs743577 SRM AU NM_003132 exon7 c.4360-146G>A 0.541334 0.7619 Uncertain 1_11119899_T->C 1 11119899 11119899 T C snp 2947.77 1/1 99 114 0 114 1.0 exonic rs7545802 SRM AU synonymous SNV NM_003132 exon1 c.A102G p.S34S 1 1 1 1 Uncertain 1_11126569_C->A 1 11126569 11126569 C A snp 799.77 1/1 60 22 0 22 1.0 downstream rs2791659 EXOSC10 AU 0.60603 0.7837 Uncertain 1_11126941_C->T 1 11126941 11126941 C T snp 1195.77 1/1 87 40 0 40 1.0 intronic rs6701726 EXOSC10 AU NM_001001998 exon1 c.31+136C>T 0.60603 0.7837 Uncertain 1_11128001_A->G 1 11128001 11128001 A G snp 2359.77 1/1 99 73 0 73 1.0 intronic rs2791657 EXOSC10 AU NM_001001998 exon2 c.1290-63A>G 0.607228 0.7897 Uncertain 1_11128329_A->G 1 11128329 11128329 A G snp 302.78 1/1 24 8 0 8 1.0 intronic rs2791656 EXOSC10 AU NM_001001998 exon2 c.1367+188A>G 0.714657 0.9415 Uncertain 1_11128654_G->A 1 11128654 11128654 G A snp 3056.77 1/1 99 107 0 107 1.0 intronic rs2791655 EXOSC10 AU NM_001001998 exon3 c.1927-47G>A 0.590256 0.7827 0.566508 0.6805 0.7946 Uncertain 1_11129848_A->G 1 11129848 11129848 A G snp 1061.77 1/1 78 32 0 32 1.0 intronic rs2791653 EXOSC10 AU NM_001001998 exon4 c.3013+61A>G 0.726438 0.9415 Uncertain 1_11132217_G->A 1 11132217 11132217 G A snp 3008.77 1/1 99 115 0 115 1.0 exonic rs1130683 EXOSC10 AU synonymous SNV NM_002685 exon19 c.C2094T p.R698R 0.60623 0.7837 0.585883 0.7022 0.7950 Uncertain 1_11133956_-->AG 1 11133956 11133956 - AG indel 1970.73 1/1 99 60 2 58 0.97 intronic rs377479487 EXOSC10 AU NM_001001998 exon7 c.7216-34insAG 0.6646 0.7775 Uncertain 1_11134157_T->G 1 11134157 11134157 T G snp 3376.77 1/1 99 100 1 99 0.99 intronic rs2748876 EXOSC10 AU NM_001001998 exon7 c.7291+92T>G 0.761981 0.9415 Uncertain 1_11137778_C->T 1 11137778 11137778 C T snp 443.77 1/1 33 15 0 15 1.0 intronic rs2259886 EXOSC10 AU NM_001001998 exon11 c.10934+70C>T 0.533347 0.7411 0.555629 Uncertain 1_11141187_C->G 1 11141187 11141187 C G snp 3437.77 1/1 99 125 0 125 1.0 exonic rs2258621 EXOSC10 AU synonymous SNV NM_001001998 exon11 c.G1389C p.P463P 0.772364 0.9405 0.692603 0.7790 0.9412 Uncertain 1_11151779_A->G 1 11151779 11151779 A G snp 554.77 1/1 42 16 0 16 1.0 intronic rs1148482 EXOSC10 AU NM_001001998 exon22 c.24880+125A>G 0.80651 0.9415 Uncertain 1_11187893_T->C 1 11187893 11187893 T C snp 1314.77 1/1 96 44 0 44 1.0 intronic rs1770344 MTOR AD NM_004958 exon15 c.20322+30T>C 0.990016 1 0.994772 0.9982 1 Uncertain 1_11205058_C->T 1 11205058 11205058 C T snp 7105.77 1/1 99 249 0 249 1.0 exonic rs1057079 MTOR AD synonymous SNV NM_004958 exon33 c.G4731A p.A1577A 0.547524 0.8165 0.545902 0.6779 0.8203 Uncertain 1_11276489_C->T 1 11276489 11276489 C T snp 514.77 0/1 99 35 17 18 0.51 intronic rs547713233 MTOR AD NM_004958 exon39 c.108750+198C>T 0.000199681 0.001 Uncertain 1_11288633_G->C 1 11288633 11288633 G C snp 90.28 1/1 9 3 0 3 1.0 intronic rs4845986 MTOR AD NM_004958 exon40 c.121183-91G>C 0.638179 0.877 Uncertain 1_11288758_G->A 1 11288758 11288758 G A snp 1545.77 1/1 99 51 0 51 1.0 exonic rs1064261 MTOR AD synonymous SNV NM_004958 exon19 c.C2997T p.N999N 0.700479 0.9187 0.617561 0.7429 0.9192 Uncertain 1_11289161_G->A 1 11289161 11289161 G A snp 347.78 1/1 27 9 0 9 1.0 intronic rs2076655 MTOR AD NM_004958 exon40 c.121434+186G>A 0.53754 0.7917 Uncertain 1_11292666_T->A 1 11292666 11292666 T A snp 543.77 1/1 42 14 0 14 1.0 intronic rs10864495 MTOR AD NM_004958 exon43 c.125044+81T>A 0.542332 0.7917 Uncertain 1_11294474_T->A 1 11294474 11294474 T A snp 730.77 1/1 54 21 0 21 1.0 intronic rs718206 MTOR AD NM_004958 exon45 c.126781+152T>A 0.694888 0.9187 Uncertain 1_11298790_T->C 1 11298790 11298790 T C snp 272.8 1/1 21 10 0 10 1.0 intronic rs2024627 MTOR AD NM_004958 exon47 c.131133+116T>C 0.700879 0.9187 Uncertain 1_11301714_A->G 1 11301714 11301714 A G snp 4257.77 1/1 99 155 0 155 1.0 exonic rs1135172 MTOR AD synonymous SNV NM_004958 exon10 c.T1437C p.D479D 0.639577 0.878 0.585345 0.7170 0.8811 Uncertain 1_11317320_C->T 1 11317320 11317320 C T snp 538.77 1/1 39 20 0 20 1.0 intronic rs2092642 MTOR AD NM_004958 exon55 c.149681+98C>T 0.540935 0.7907 Uncertain 1_11318763_C->G 1 11318763 11318763 C G snp 351.78 1/1 27 10 0 10 1.0 intronic rs2076657 MTOR AD NM_004958 exon56 c.151109+113C>G 0.541134 0.7907 Uncertain 1_11319587_A->G 1 11319587 11319587 A G snp 372.77 1/1 30 11 0 11 1.0 intronic rs4845988 MTOR AD NM_004958 exon57 c.151939+107A>G 0.538339 0.7718 Uncertain 1_11586996_C->T 1 11586996 11586996 C T snp 56.74 1/1 6 2 0 2 1.0 intronic rs35367501 PTCHD2 AU NM_020780 exon13 c.25843+104C>T 0.128395 0.2252 Uncertain 1_11593640_A->G 1 11593640 11593640 A G snp 44.74 1/1 6 2 0 2 1.0 intronic rs2745297 PTCHD2 AU NM_020780 exon18 c.33388-797A>G 0.945687 0.998 Uncertain 1_11593793_-->GCACACACGCAC 1 11593793 11593793 - GCACACACGCAC indel 4080.73 1/1 90 31 0 31 1.0 intronic rs113116961 PTCHD2 AU NM_020780 exon18 c.33388-644insGCACACACGCAC 0.38778 0.3929 Uncertain 1_11594400_T->C 1 11594400 11594400 T C snp 4122.77 1/1 99 148 0 148 1.0 intronic rs2235663 PTCHD2 AU NM_020780 exon18 c.33388-37T>C 0.638179 0.749 0.531132 0.4529 0.7540 Uncertain 1_11595038_A->G 1 11595038 11595038 A G snp 5132.77 1/1 99 182 0 182 1.0 intronic rs2076467 PTCHD2 AU NM_020780 exon19 c.34018-29A>G 0.137181 0.2341 0.103879 0.1819 0.2980 Uncertain 1_11595203_A->G 1 11595203 11595203 A G snp 783.77 1/1 57 31 0 31 1.0 intronic rs2235662 PTCHD2 AU NM_020780 exon19 c.34132+22A>G 0.175919 0.249 0.126168 0.1802 0.2832 Uncertain 1_11595293_A->G 1 11595293 11595293 A G snp 54.74 1/1 6 3 0 3 1.0 intronic rs2235661 PTCHD2 AU NM_020780 exon19 c.34132+112A>G 0.172923 0.249 Uncertain 1_11708736_T->C 1 11708736 11708736 T C snp 1309.77 0/1 99 142 81 61 0.43 UTR3 rs1055547 FBXO2 AU 0.504992 0.4077 0.628404 0.6481 0.4098 Uncertain 1_11709052_C->G 1 11709052 11709052 C G snp 145.77 0/1 99 12 5 7 0.58 intronic rs4397658 FBXO2 AU NM_012168 exon2 c.393-91C>G 0.554912 0.4345 Uncertain 1_11710224_C->T 1 11710224 11710224 C T snp 201.77 0/1 60 10 2 8 0.8 intronic FBXO2 AU NM_012168 exon4 c.1381+93C>T Uncertain 1_11710561_T->G 1 11710561 11710561 T G snp 2177.77 0/1 99 224 126 98 0.44 exonic rs9614 FBXO2 AU nonsynonymous SNV NM_012168 exon2 c.A353C p.K118T 0.24361 0.4494 0.183392 0.2612 0.5018 0.09 T 0.910 P -0.915 T 0.998 D 0.998 D Pathogenic 1_11714368_T->G 1 11714368 11714368 T G snp 719.77 1/1 54 27 0 27 1.0 intronic rs2272983 FBXO2 AU NM_012168 exon6 c.5625-7T>G 0.799121 0.7659 0.813945 0.7544 0.7436 Uncertain 1_11718701_G->A 1 11718701 11718701 G A snp 1041.77 0/1 99 69 24 45 0.65 intronic rs750684404 FBXO44 AU NM_033182 exon4 c.2793+16G>A 1.698e-05 0 Uncertain 1_11731928_G->- 1 11731928 11731928 G - indel 617.73 0/1 99 49 24 25 0.51 intronic rs3215521 FBXO6 AU NM_018438 exon4 c.3269-56delG Uncertain 1_11735245_A->C 1 11735245 11735245 A C snp 691.77 0/1 99 73 39 34 0.47 intronic rs878778 MAD2L2 AU NM_001127325 exon2 c.400+14A>C 0.149561 0.4544 0.033759 0.1009 0.4752 Uncertain 1_11735377_G->C 1 11735377 11735377 G C snp 41.77 0/1 70 4 2 2 0.5 intronic rs2272982 MAD2L2 AU NM_001127325 exon2 c.400+146G>C 0.605831 0.4246 Uncertain 1_11737051_G->C 1 11737051 11737051 G C snp 1614.77 0/1 99 147 73 74 0.5 intronic rs2294638 MAD2L2 AU NM_001127325 exon5 c.2174+46G>C 0.626997 0.4246 0.619040 0.5673 0.4027 Uncertain 1_11740330_GGCGTGAGCCAC->- 1 11740330 11740341 GGCGTGAGCCAC - indel 10122.7 0/1 99 144 71 73 0.51 intronic rs151210857 MAD2L2 AU NM_001127325 exon7 c.5578-79_5578-68delGGCGTGAGCCAC 0.29393 0.5129 Uncertain 1_11740358_A->G 1 11740358 11740358 A G snp 3131.77 0/1 99 231 108 123 0.53 intronic rs7417320 MAD2L2 AU NM_001127325 exon7 c.5578-51A>G 0.436502 0.4256 0.416812 Uncertain 1_11766424_C->T 1 11766424 11766424 C T snp 1452.77 0/1 99 96 34 62 0.65 exonic rs11121804 DRAXIN AU nonsynonymous SNV NM_198545 exon2 c.C109T p.L37F 0.150958 0.2817 0.138244 0.1594 0.2929 0.6 T 0.0 P -1.008 T 0.571 P 0.395 P Pathogenic 1_11771988_A->G 1 11771988 11771988 A G snp 1867.77 0/1 99 143 66 77 0.54 exonic rs17037327 DRAXIN AU synonymous SNV NM_198545 exon4 c.A723G p.L241L 0.0966454 0.0655 0.119714 0.1301 0.0492 Uncertain 1_11772229_A->G 1 11772229 11772229 A G snp 315.77 0/1 93 14 4 10 0.71 intronic rs60437934 DRAXIN AU NM_198545 exon5 c.6081-167A>G 0.135184 0.2282 Uncertain 1_11772303_A->G 1 11772303 11772303 A G snp 2288.77 1/1 99 80 0 80 1.0 intronic rs1883574 DRAXIN AU NM_198545 exon5 c.6081-93A>G 0.849241 0.8641 Uncertain 1_11772340_G->A 1 11772340 11772340 G A snp 813.77 0/1 99 122 83 39 0.32 intronic rs2336034 DRAXIN AU NM_198545 exon5 c.6081-56G>A 0.0964457 0.0655 Uncertain 1_11779499_T->C 1 11779499 11779499 T C snp 141.03 1/1 12 4 0 4 1.0 intronic rs4846028 DRAXIN AU NM_198545 exon7 c.13325-141T>C 0.529553 0.5913 Uncertain 1_11782736_C->T 1 11782736 11782736 C T snp 820.77 0/1 99 85 48 37 0.44 intergenic rs138525633 DRAXIN AU 0.00159744 0.0079 Uncertain 1_11782781_G->C 1 11782781 11782781 G C snp 2611.77 1/1 99 95 0 95 1.0 intergenic rs7533583 DRAXIN AU 0.412141 0.498 Uncertain 1_11782886_C->T 1 11782886 11782886 C T snp 839.78 1/1 27 34 1 33 0.97 intergenic rs6540990 DRAXIN AU 0.961262 0.9762 Uncertain 1_11796169_GGGCG->- 1 11796169 11796173 GGGCG - indel 907.73 1/1 39 13 0 13 1.0 UTR5 rs140821677 AGTRAP AU 0.988419 1 Uncertain 1_11807426_C->T 1 11807426 11807426 C T snp 3804.77 1/1 99 139 0 139 1.0 intronic rs12752700 AGTRAP AU NM_001040195 exon2 c.11231-70C>T 0.555911 0.8839 Uncertain 1_11808706_T->G 1 11808706 11808706 T G snp 310.77 0/1 99 26 15 11 0.42 intronic rs11121819 AGTRAP AU NM_001040197 exon5 c.12402+39T>G 0.398562 0.5883 0.341291 0.3914 0.5955 Uncertain 1_11824242_A->C 1 11824242 11824242 A C snp 385.77 1/1 30 13 0 13 1.0 intronic rs4845876 C1orf167 AU 0.658347 0.7917 Uncertain 1_11824303_T->C 1 11824303 11824303 T C snp 1597.77 1/1 99 52 0 52 1.0 intronic rs4845877 C1orf167 AU 0.591653 0.7917 Uncertain 1_11824346_G->A 1 11824346 11824346 G A snp 2177.77 1/1 99 78 0 78 1.0 intronic rs4845878 C1orf167 AU 0.582468 0.7808 0.4906 0.7836 Uncertain 1_11824556_A->G 1 11824556 11824556 A G snp 2431.77 1/1 99 82 0 82 1.0 intronic rs4845879 C1orf167 AU NM_001010881 exon2 c.70+29A>G 0.596446 0.7381 0.5127 0.7164 Uncertain 1_11824575_T->C 1 11824575 11824575 T C snp 1851.77 1/1 99 58 1 57 0.98 intronic rs10864536 C1orf167 AU NM_001010881 exon2 c.70+48T>C 0.757588 0.8968 0.6820 0.9104 Uncertain 1_11824578_C->T 1 11824578 11824578 C T snp 1700.77 1/1 99 56 0 56 1.0 intronic rs11121825 C1orf167 AU NM_001010881 exon2 c.70+51C>T 0.595847 0.7381 0.5098 0.7 Uncertain 1_11824621_T->C 1 11824621 11824621 T C snp 726.77 1/1 57 19 0 19 1.0 intronic rs11121826 C1orf167 AU NM_001010881 exon2 c.70+94T>C 0.632588 0.7421 Uncertain 1_11825851_G->C 1 11825851 11825851 G C snp 3025.77 1/1 99 112 0 112 1.0 intronic rs10218813 C1orf167 AU NM_001010881 exon3 c.1456-62G>C 0.651358 0.7421 Uncertain 1_11826630_C->T 1 11826630 11826630 C T snp 1823.77 1/1 99 55 0 55 1.0 exonic rs6668699 C1orf167 AU nonsynonymous SNV NM_001010881 exon3 c.C787T p.P263S 0.629593 0.7302 0.6345 0.7078 0.8 T 0.0 P -0.999 T Pathogenic 1_11827180_A->G 1 11827180 11827180 A G snp 2454.77 1/1 99 94 1 93 0.99 intronic rs6540995 C1orf167 AU NM_001010881 exon3 c.2685+38A>G 0.968051 1 0.9928 1 Uncertain 1_11827304_A->G 1 11827304 11827304 A G snp 3412.77 1/1 99 133 1 132 0.99 exonic rs6540996 C1orf167 AU synonymous SNV NM_001010881 exon4 c.A1326G p.P442P 0.968051 1 0.9956 1 Uncertain 1_11827355_A->G 1 11827355 11827355 A G snp 2110.77 1/1 99 80 0 80 1.0 intronic rs6540997 C1orf167 AU NM_001010881 exon4 c.2864+34A>G 0.632987 0.7302 0.5421 0.6684 Uncertain 1_11828238_G->A 1 11828238 11828238 G A snp 2821.77 1/1 99 101 0 101 1.0 exonic rs4845880 C1orf167 AU nonsynonymous SNV NM_001010881 exon5 c.G1448A p.R483Q 0.610623 0.7292 0.5587 0.6990 0.27 T 0.0 P -1.075 T Pathogenic 1_11828319_G->A 1 11828319 11828319 G A snp 2790.77 1/1 99 98 0 98 1.0 exonic rs4845881 C1orf167 AU nonsynonymous SNV NM_001010881 exon5 c.G1529A p.R510Q 0.611821 0.7292 0.5646 0.6964 0.58 T 0.000 P -1.066 T Pathogenic 1_11831615_C->T 1 11831615 11831615 C T snp 3002.77 1/1 99 109 0 109 1.0 exonic rs6667720 C1orf167 AU nonsynonymous SNV NM_001010881 exon7 c.C1732T p.R578W 0.696286 0.88 0.6423 0.8932 0.16 T 0.0 P -1.097 T Pathogenic 1_11831756_A->G 1 11831756 11831756 A G snp 853.77 1/1 63 25 0 25 1.0 intronic rs6680385 C1orf167 AU NM_001010881 exon7 c.7236+63A>G 0.698083 0.88 Uncertain 1_11832100_T->A 1 11832100 11832100 T A snp 1128.77 1/1 81 38 0 38 1.0 intronic rs11121827 C1orf167 AU NM_001010881 exon8 c.7681-38T>A 0.56869 0.7649 0.5766 0.76 Uncertain 1_11832311_G->C 1 11832311 11832311 G C snp 914.77 1/1 69 29 0 29 1.0 exonic rs10779764 C1orf167 AU synonymous SNV NM_001010881 exon8 c.G1983C p.L661L 0.56849 0.7649 0.5451 0.7616 1.000 P -1.004 T Likely benign 1_11836318_G->A 1 11836318 11836318 G A snp 90.28 1/1 9 3 0 3 1.0 intronic rs6659425 C1orf167 AU NM_001010881 exon10 c.12063-202G>A 0.933706 1 Uncertain 1_11836441_T->C 1 11836441 11836441 T C snp 2397.77 1/1 99 89 0 89 1.0 intronic rs6699669 C1orf167 AU NM_001010881 exon10 c.12063-79T>C 0.933107 1 Uncertain 1_11836442_G->A 1 11836442 11836442 G A snp 2429.77 1/1 99 90 0 90 1.0 intronic rs6659541 C1orf167 AU NM_001010881 exon10 c.12063-78G>A 0.569888 0.7698 Uncertain 1_11836628_T->C 1 11836628 11836628 T C snp 2806.77 1/1 99 99 0 99 1.0 exonic rs6699881 C1orf167 AU nonsynonymous SNV NM_001010881 exon10 c.T2272C p.W758R 0.70008 0.8839 0.6899 0.9038 0.9 T 0.0 P -1.023 T 0.0 T 0.0 T Pathogenic 1_11836682_C->T 1 11836682 11836682 C T snp 1836.77 1/1 99 62 0 62 1.0 exonic rs7538516 C1orf167 AU nonsynonymous SNV NM_001010881 exon10 c.C2326T p.R776C 0.570487 0.7698 0.5952 0.7552 0.16 T 0.000 P -1.095 T 0.032 T 0.012 T Pathogenic 1_11838848_G->T 1 11838848 11838848 G T snp 2926.77 1/1 99 104 0 104 1.0 exonic rs6697244 C1orf167 AU nonsynonymous SNV NM_001010881 exon11 c.G2471T p.S824I 0.570687 0.7698 0.5385 0.7572 0.35 T 0.0 P -1.069 T 0.006 T 0.005 T Pathogenic 1_11839966_G->A 1 11839966 11839966 G A snp 1126.77 1/1 81 41 0 41 1.0 exonic rs4846043 C1orf167 AU nonsynonymous SNV NM_001010881 exon13 c.G2759A p.R920H 0.569888 0.7649 0.5237 0.7619 0.23 T 0.000 P -1.133 T 0.271 T 0.046 T Pathogenic 1_11839998_T->C 1 11839998 11839998 T C snp 920.77 1/1 66 35 0 35 1.0 exonic rs4846044 C1orf167 AU nonsynonymous SNV NM_001010881 exon13 c.T2791C p.W931R 0.879792 0.994 0.9479 0.9976 0.58 T 0.0 P -0.985 T 0.0 T 0.0 T Pathogenic 1_11842144_C->G 1 11842144 11842144 C G snp 529.77 1/1 39 20 0 20 1.0 intronic rs10864542 C1orf167 AU NM_001010881 exon14 c.17788-101C>G 0.569688 0.7659 Uncertain 1_11844330_C->T 1 11844330 11844330 C T snp 5256.77 1/1 99 198 0 198 1.0 exonic rs10864543 C1orf167 AU synonymous SNV NM_001010881 exon15 c.C3105T p.A1035A 0.498003 0.7649 0.5379 0.7613 0.0 P -1.001 T Likely benign 1_11845113_G->A 1 11845113 11845113 G A snp 533.77 1/1 39 19 0 19 1.0 intronic rs11587953 C1orf167 AU NM_001010881 exon16 c.20747-91G>A 0.933506 1 Uncertain 1_11845169_T->G 1 11845169 11845169 T G snp 1354.77 1/1 96 48 0 48 1.0 intronic rs11586659 C1orf167 AU NM_001010881 exon16 c.20747-35T>G 0.654752 0.881 0.6069 0.8212 Uncertain 1_11847334_-->GAA 1 11847334 11847334 - GAA indel 539.74 1/1 30 10 0 10 1.0 UTR3 rs113394969 MTHFR AR,AD,AU 0.570088 0.7659 Uncertain 1_11847542_G->A 1 11847542 11847542 G A snp 722.77 0/1 99 66 33 33 0.5 exonic rs753706728 C1orf167 AU stopgain NM_001010881 exon17 c.G3665A p.W1222X 0.0002 0.0021 1.000 N -1.067 T Pathogenic 1_11847759_C->T 1 11847759 11847759 C T snp 99.28 1/1 9 3 0 3 1.0 UTR3 rs3737966 MTHFR AR,AD,AU 0.558506 0.7738 Uncertain 1_11848879_A->G 1 11848879 11848879 A G snp 2111.77 1/1 99 71 0 71 1.0 UTR3 rs2077360 MTHFR AR,AD,AU 0.930511 1 Uncertain 1_11849447_A->G 1 11849447 11849447 A G snp 1857.77 1/1 99 67 0 67 1.0 exonic rs868014 C1orf167 AU nonsynonymous SNV NM_001010881 exon21 c.A4294G p.R1432G 0.932907 1 0.9871 1 0.77 T 0.000 P -0.975 T 0.0 T 0.002 T Pathogenic 1_11854457_G->A 1 11854457 11854457 G A snp 3963.77 1/1 99 137 0 137 1.0 exonic rs4846051 MTHFR AR,AD,AU synonymous SNV NM_005957 exon8 c.C1305T p.F435F 0.902955 0.996 0.890512 0.9697 0.9990 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000153514.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 ID=CM044675;DIS=Preeclampsia, association with;TAG=DP;PUB=15059157 DP Uncertain 1_11854755_G->A 1 11854755 11854755 G A snp 2551.77 1/1 99 90 0 90 1.0 intronic rs1994798 MTHFR AR,AD,AU NM_005957 exon6 c.4049-30G>A 0.579273 0.754 0.535753 0.5952 0.7643 Uncertain 1_11863038_G->A 1 11863038 11863038 G A snp 2921.77 0/1 99 249 125 124 0.5 exonic rs138189536 MTHFR AR,AD,AU nonsynonymous SNV NM_005957 exon2 c.C136T p.R46W 0.000399361 0.002 0.0002 0.0027 0.05 T 0.994 D -0.111 T 0.99 D 0.53 D CLINSIG=pathogenic;CLNDBN=Homocysteinemia_due_to_MTHFR_deficiency;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000167586.1;CLNDSDB=MedGen:OMIM:Orphanet;CLNDSDBID=C1856058:236250:ORPHA395 ID=CM155646;DIS=Methylenetetrahydrofolate reductase deficiency;TAG=DM;PUB=25736335 DM Pathogenic 1_11867044_T->C 1 11867044 11867044 T C snp 1376.77 1/1 99 46 0 46 1.0 intronic rs3737964 CLCN6 AU NM_001256959 exon2 c.868-143T>C 0.76857 0.8968 Uncertain 1_11876417_C->T 1 11876417 11876417 C T snp 82.28 1/1 9 3 0 3 1.0 intronic rs198391 CLCN6 AU NM_001256959 exon3 c.10352-254C>T 0.59345 0.7679 Uncertain 1_11884555_A->G 1 11884555 11884555 A G snp 4345.77 1/1 99 164 0 164 1.0 exonic rs198400 CLCN6 AU nonsynonymous SNV NM_001286 exon8 c.A593G p.E198G 0.9998 1 0.999154 0.9994 1 1 T 0.117 P -0.910 T 0.001 T 0.0 T Pathogenic 1_11886137_C->T 1 11886137 11886137 C T snp 46.77 0/1 75 54 42 12 0.22 intronic CLCN6 AU NM_001256959 exon8 c.19893-75C>T Uncertain 1_11900035_G->A 1 11900035 11900035 G A snp 1258.77 1/1 93 38 0 38 1.0 intronic rs198410 CLCN6 AU NM_001256959 exon22 c.33880-164G>A 0.9998 1 Uncertain 1_11918444_C->T 1 11918444 11918444 C T snp 3185.74 0/1 99 250 114 136 0.54 exonic rs61761991 NPPB AU nonsynonymous SNV NM_002521 exon2 c.G215A p.R72H 0.00159744 0.004 0.000231 0.0034 0.0076 0.61 T 1 N -0.977 T 0.0 T 0.0 T ID=COSM240919;OCCURENCE=1(prostate) Pathogenic 1_11971345_T->C 1 11971345 11971345 T C snp 351.78 1/1 27 10 0 10 1.0 intergenic rs4845889 NPPB AU 0.684704 0.6815 Uncertain 1_11980449_T->C 1 11980449 11980449 T C snp 1760.77 0/1 99 132 58 74 0.56 intronic rs17037529 KIAA2013 AU NM_138346 exon1 c.18+60T>C 0.115815 0.0952 0.163820 Uncertain 1_11982544_T->C 1 11982544 11982544 T C snp 1752.77 1/1 99 67 0 67 1.0 intronic rs2639453 KIAA2013 AU NM_138346 exon2 c.2321-148T>C 0.820887 0.7589 0.8405 0.7590 Uncertain 1_11983041_G->A 1 11983041 11983041 G A snp 845.77 0/1 99 97 53 44 0.45 exonic rs33910280 KIAA2013 AU synonymous SNV NM_138346 exon2 c.C1539T p.S513S 0.0231629 0.0288 0.040923 0.0407 0.0241 Uncertain 1_11983206_A->G 1 11983206 11983206 A G snp 2443.77 1/1 99 90 0 90 1.0 exonic rs3795408 KIAA2013 AU synonymous SNV NM_138346 exon2 c.T1374C p.F458F 0.675319 0.6796 0.593349 0.5929 0.6658 Uncertain 1_11986229_G->A 1 11986229 11986229 G A snp 40.77 0/1 69 8 6 2 0.25 exonic rs112019995 KIAA2013 AU synonymous SNV NM_138346 exon1 c.C66T p.L22L 0.0213658 0.0288 0.0584 0.0706 Uncertain 1_12004479_-->ACACAC 1 12004479 12004479 - ACACAC indel 1804.73 ./1 99 25 0 25 1.0 intronic rs6143123 PLOD1 AR NM_000302 exon2 c.13196-3553insACACAC Uncertain 1_12004479_-->ACACACACAC 1 12004479 12004479 - ACACACACAC indel 1804.73 ./1 99 25 0 25 1.0 intronic rs753412969 PLOD1 AR NM_000302 exon2 c.13196-3553insACACACACAC Uncertain 1_12004512_T->A 1 12004512 12004512 T A snp 641.77 0/1 99 60 29 31 0.52 intronic rs61776487 PLOD1 AR NM_000302 exon2 c.13196-3520T>A Uncertain 1_12004694_C->T 1 12004694 12004694 C T snp 858.77 0/1 99 93 53 40 0.43 intronic rs78727544 PLOD1 AR NM_000302 exon2 c.13196-3338C>T 0.0081869 0.0308 0.0075 0.0275 Uncertain 1_12014458_G->A 1 12014458 12014458 G A snp 195.77 0/1 99 9 3 6 0.67 intronic rs190883913 PLOD1 AR NM_000302 exon6 c.20050-428G>A 0.0081869 0.0308 Uncertain 1_12024038_G->T 1 12024038 12024038 G T snp 228.77 0/1 97 10 3 7 0.7 intronic rs116185627 PLOD1 AR NM_000302 exon12 c.29395-193G>T 0.0385383 0.0327 Uncertain 1_12024869_C->T 1 12024869 12024869 C T snp 626.77 0/1 99 51 25 26 0.51 intronic rs76974801 PLOD1 AR NM_000302 exon13 c.30006+27C>T 0.0125799 0.0327 0.006920 0.0056 0.0265 Uncertain 1_12024923_T->C 1 12024923 12024923 T C snp 159.77 0/1 61 7 2 5 0.71 intronic rs7529312 PLOD1 AR NM_000302 exon13 c.30006+81T>C 0.185503 0.1528 Uncertain 1_12026090_A->G 1 12026090 12026090 A G snp 50.74 1/1 6 2 0 2 1.0 intronic rs6678553 PLOD1 AR NM_000302 exon15 c.31471-217A>G 0.657548 0.6845 Uncertain 1_12027188_G->A 1 12027188 12027188 G A snp 176.77 0/1 99 16 8 8 0.5 intronic rs75453415 PLOD1 AR NM_000302 exon16 c.32312+40G>A 0.0141773 0.0476 0.002537 0.0054 0.0391 Uncertain 1_12027204_C->T 1 12027204 12027204 C T snp 152.77 0/1 99 15 8 7 0.47 intronic rs2273293 PLOD1 AR NM_000302 exon16 c.32312+56C>T 0.563898 0.6359 Uncertain 1_12030995_A->G 1 12030995 12030995 A G snp 130.03 1/1 12 4 0 4 1.0 intronic rs59235751 PLOD1 AR NM_000302 exon17 c.36037+122A>G 0.631789 0.6885 Uncertain 1_12033113_A->G 1 12033113 12033113 A G snp 2678.77 1/1 99 78 0 78 1.0 intronic rs3737961 PLOD1 AR NM_000302 exon18 c.38218+59A>G 0.64976 0.6875 Uncertain 1_12033120_G->C 1 12033120 12033120 G C snp 2381.77 1/1 99 67 0 67 1.0 intronic rs3820190 PLOD1 AR NM_000302 exon18 c.38218+66G>C 0.659345 0.6875 Uncertain 1_12034805_T->C 1 12034805 12034805 T C snp 3198.81 0/1 99 218 81 137 0.63 exonic rs879690 PLOD1 AR synonymous SNV NM_000302 exon19 c.T2124C p.H708H 0.0613019 0.0476 0.049362 0.0224 0.0397 Uncertain 1_12049390_C->T 1 12049390 12049390 C T snp 1496.77 0/1 99 114 54 60 0.53 exonic rs77458527 MFN2 AR,AD synonymous SNV NM_014874 exon3 c.C165T p.T55T 0.0123802 0.0496 0.000077 0.0049 0.0417 CLINSIG=non-pathogenic;CLNDBN=not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000126757.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Uncertain 1_12056067_T->C 1 12056067 12056067 T C snp 597.77 0/1 99 29 11 18 0.62 intronic rs117309840 MFN2 AR,AD NM_014874 exon5 c.6987-145T>C 0.0125799 0.0496 Uncertain 1_12056309_A->T 1 12056309 12056309 A T snp 2468.77 0/1 99 220 116 104 0.47 exonic rs78814413 MFN2 AR,AD synonymous SNV NM_014874 exon5 c.A408T p.V136V 0.0123802 0.0496 0.000077 0.0049 0.0417 CLINSIG=non-pathogenic;CLNDBN=not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000126747.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Uncertain 1_12056440_C->T 1 12056440 12056440 C T snp 210.77 0/1 99 19 12 7 0.37 intronic rs2236056 MFN2 AR,AD NM_014874 exon5 c.7150+65C>T 0.653554 0.6349 Uncertain 1_12057321_C->T 1 12057321 12057321 C T snp 983.77 0/1 99 72 38 34 0.47 intronic rs76051569 MFN2 AR,AD NM_014874 exon6 c.8128-32C>T 0.0125799 0.0496 0.000538 0.0050 0.0416 Uncertain 1_12058802_T->C 1 12058802 12058802 T C snp 1334.77 0/1 99 124 66 58 0.47 intronic rs41278626 MFN2 AR,AD NM_014874 exon7 c.9601-24T>C 0.0688898 0.1389 0.047517 0.0554 0.1259 Uncertain 1_12062205_A->G 1 12062205 12062205 A G snp 3534.77 1/1 99 121 0 121 1.0 intronic rs2236057 MFN2 AR,AD NM_014874 exon11 c.12935+45A>G 0.657947 0.6845 0.650238 0.6615 0.6703 Uncertain 1_12065170_A->G 1 12065170 12065170 A G snp 60.77 0/1 89 9 6 3 0.33 intronic rs3766742 MFN2 AR,AD NM_014874 exon14 c.15759+186A>G 0.0688898 0.1389 Uncertain 1_12065841_C->T 1 12065841 12065841 C T snp 854.77 0/1 99 132 91 41 0.31 exonic rs1042837 MFN2 AR,AD synonymous SNV NM_014874 exon15 c.C1569T p.S523S 0.0690895 0.1389 0.047363 0.0553 0.1256 CLINSIG=non-pathogenic;CLNDBN=not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000126752.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Uncertain 1_12067044_T->G 1 12067044 12067044 T G snp 100.77 0/1 64 6 2 4 0.67 intronic rs7550536 MFN2 AR,AD NM_014874 exon17 c.17884-65T>G 0.526757 0.5456 Uncertain 1_12067388_C->T 1 12067388 12067388 C T snp 545.77 0/1 99 42 22 20 0.48 intronic rs11586204 MFN2 AR,AD NM_014874 exon17 c.18081+82C>T 0.0688898 0.1389 Uncertain 1_12069798_T->C 1 12069798 12069798 T C snp 1046.77 0/1 99 97 50 47 0.48 intronic rs77262016 MFN2 AR,AD NM_014874 exon18 c.20558+15T>C 0.102835 0.1389 0.081808 0.0648 0.1229 CLINSIG=non-pathogenic;CLNDBN=not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000126755.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Uncertain 1_12071680_A->G 1 12071680 12071680 A G snp 873.77 1/1 63 28 0 28 1.0 UTR3 rs1042842 MFN2 AR,AD 0.732428 0.6994 0.709155 Uncertain 1_12073650_G->T 1 12073650 12073650 G T snp 120.78 0/1 27 5 1 4 0.8 downstream rs77280815 MFN2 AR,AD 0.0273562 0.0486 Uncertain 1_12082583_T->C 1 12082583 12082583 T C snp 703.77 0/1 99 80 54 26 0.33 intronic rs2295282 MIIP AU NM_021933 exon3 c.716+84T>C 0.0135783 0.0486 Uncertain 1_12082926_A->G 1 12082926 12082926 A G snp 3869.77 1/1 99 132 0 132 1.0 exonic rs2295283 MIIP AU nonsynonymous SNV NM_021933 exon4 c.A499G p.K167E 0.669329 0.5516 0.738275 0.7058 0.5744 1 T 0.0 P -1.010 T 0.0 T 0.0 T ID=CM100611;DIS=Breast cancer, reduced risk, association with;TAG=DFP;PUB=20103646 DFP Pathogenic 1_12082985_-->T 1 12082985 12082985 - T indel 600.73 0/1 99 43 24 19 0.44 intronic rs138989678 MIIP AU NM_021933 exon4 c.1191+11insT 0.0125799 0.0486 0.000799 0.0050 0.0552 Uncertain 1_12089142_C->G 1 12089142 12089142 C G snp 984.77 0/1 99 139 93 46 0.33 exonic rs79856956 MIIP AU synonymous SNV NM_021933 exon5 c.C600G p.S200S 0.0125799 0.0486 0.000846 0.0037 0.0406 Uncertain 1_12089163_A->G 1 12089163 12089163 A G snp 1143.77 0/1 99 148 100 48 0.32 exonic rs2295284 MIIP AU synonymous SNV NM_021933 exon5 c.A621G p.E207E 0.0125799 0.0486 0.000846 0.0037 0.0408 Uncertain 1_12089359_A->T 1 12089359 12089359 A T snp 381.77 0/1 99 39 21 18 0.46 intronic rs2295285 MIIP AU NM_021933 exon6 c.7555+21A>T 0.0111821 0.0486 0.0041 0.0485 Uncertain 1_12089851_C->T 1 12089851 12089851 C T snp 1304.77 0/1 99 122 68 54 0.44 exonic rs2295290 MIIP AU synonymous SNV NM_021933 exon7 c.C745T p.L249L 0.0111821 0.0486 0.0035 0.0406 Uncertain 1_12089946_C->G 1 12089946 12089946 C G snp 2534.77 0/1 99 222 109 113 0.51 exonic rs117146839 MIIP AU nonsynonymous SNV NM_021933 exon7 c.C840G p.H280Q 0.0125799 0.0486 0.000692 0.0037 0.0413 0.68 T 1.000 N -0.983 T 0.001 T 0.001 T Pathogenic 1_12090154_C->T 1 12090154 12090154 C T snp 1421.77 0/1 99 90 29 61 0.68 exonic rs74797667 MIIP AU synonymous SNV NM_021933 exon8 c.C915T p.D305D 0.0111821 0.0486 0.000077 0.0034 0.0402 Uncertain 1_12091210_T->C 1 12091210 12091210 T C snp 800.77 1/1 60 24 0 24 1.0 intronic rs946461 MIIP AU NM_021933 exon9 c.9539-112T>C 0.707867 0.5556 Uncertain 1_12091753_C->T 1 12091753 12091753 C T snp 2202.77 0/1 99 210 109 101 0.48 intronic rs2295291 MIIP AU NM_021933 exon10 c.9995-25C>T 0.0111821 0.0486 0.0034 0.0406 Uncertain 1_12091962_C->T 1 12091962 12091962 C T snp 77.77 0/1 99 7 4 3 0.43 UTR3 rs2295292 MIIP AU 0.0111821 0.0486 Uncertain 1_12091969_A->G 1 12091969 12091969 A G snp 77.77 0/1 99 7 4 3 0.43 UTR3 rs2295293 MIIP AU 0.0111821 0.0486 Uncertain 1_12164437_C->T 1 12164437 12164437 C T snp 3409.77 1/1 99 110 0 110 1.0 exonic rs2230622 TNFRSF8 AU synonymous SNV NM_001243 exon4 c.C270T p.D90D 0.292732 0.3264 0.233584 0.2802 0.3293 Uncertain 1_12175729_C->T 1 12175729 12175729 C T snp 4218.77 1/1 99 156 0 156 1.0 exonic rs1763642 TNFRSF8 AU nonsynonymous SNV NM_001281430 exon7 c.C556T p.R186C 1 1 1.0000 1 1 T 0.003 P -0.939 T 0.0 T 0.0 T Pathogenic 1_12175818_A->G 1 12175818 12175818 A G snp 2094.77 1/1 99 77 0 77 1.0 intronic rs598661 TNFRSF8 AU NM_001243 exon8 c.52131+32A>G 0.399561 0.381 0.310703 0.3032 0.3817 Uncertain 1_12183174_A->C 1 12183174 12183174 A C snp 683.77 1/1 51 17 0 17 1.0 intronic rs4846096 TNFRSF8 AU NM_001243 exon9 c.59685-166A>C 0.682508 0.7083 Uncertain 1_12249031_A->G 1 12249031 12249031 A G snp 624.77 0/1 99 48 26 22 0.46 intronic rs1201157 TNFRSF1B AU NM_001066 exon2 c.21804+79A>G 0.611422 0.6954 Uncertain 1_12252333_-->TG 1 12252333 12252333 - TG indel 150.73 0/1 99 18 12 6 0.33 intronic rs150721544 TNFRSF1B AU NM_001066 exon5 c.25339-154insTG Uncertain 1_12401868_A->C 1 12401868 12401868 A C snp 2222.77 1/1 99 81 1 80 0.99 exonic rs28551666 VPS13D AU synonymous SNV NM_015378 exon41 c.A8658C p.P2886P 0.796725 0.8978 0.788559 0.7910 0.9027 1.000 P -1.029 T Likely benign 1_12418700_T->C 1 12418700 12418700 T C snp 2341.77 1/1 99 78 0 78 1.0 intronic rs10864552 VPS13D AU NM_018156 exon49 c.124334+43T>C 0.964058 0.999 0.929110 0.9310 0.9998 Uncertain 1_12567232_A->G 1 12567232 12567232 A G snp 3996.77 1/1 99 147 0 147 1.0 intronic rs7554257 VPS13D AU NM_018156 exon68 c.272824+85A>G 0.989617 0.997 Uncertain 1_12638964_T->C 1 12638964 12638964 T C snp 1341.77 0/1 99 93 37 56 0.6 exonic rs2275875 DHRS3 AU synonymous SNV NM_004753 exon4 c.A480G p.P160P 0.804712 0.7282 0.846609 0.8314 0.7254 Uncertain 1_12639018_C->T 1 12639018 12639018 C T snp 713.77 0/1 99 40 16 24 0.6 intronic rs2275874 DHRS3 AU NM_004753 exon3 c.10616+34C>T 0.391374 0.3591 0.418192 0.5308 0.3791 Uncertain 1_12639168_A->G 1 12639168 12639168 A G snp 794.77 0/1 99 72 39 33 0.46 intronic rs3128461 DHRS3 AU NM_004753 exon4 c.10952-152A>G 0.775759 0.7143 0.8338 0.7331 Uncertain 1_12776218_A->C 1 12776218 12776218 A C snp 380.77 1/1 30 13 0 13 1.0 exonic rs3000860 AADACL3 AU unknown 0.85643 0.7321 Uncertain 1_12776344_A->T 1 12776344 12776344 A T snp 2321.77 1/1 99 82 0 82 1.0 exonic rs3000859 AADACL3 AU unknown 0.65655 0.619 0.726267 0.7779 0.6424 1 T 1.000 P -0.907 T 0.0 T 0.0 T Uncertain 1_12779560_T->C 1 12779560 12779560 T C snp 4223.77 1/1 99 162 0 162 1.0 exonic rs3010876 AADACL3 AU unknown 0.849441 0.7817 0.856757 0.8328 0.7770 Uncertain 1_12779618_T->C 1 12779618 12779618 T C snp 2897.77 1/1 99 107 0 107 1.0 exonic rs3010877 AADACL3 AU unknown 0.848043 0.7817 0.857479 0.8317 0.7768 1 T 0.000 P -1.017 T 0.0 T 0.0 T Uncertain 1_12785093_T->G 1 12785093 12785093 T G snp 679.77 1/1 51 22 0 22 1.0 intronic rs4361998 AADACL3 AU NM_001103170 exon4 c.9009-95T>G 0.804712 0.7817 Uncertain 1_12785494_G->T 1 12785494 12785494 G T snp 6850.77 1/1 99 243 0 243 1.0 exonic rs7513079 AADACL3 AU unknown 0.682308 0.7798 0.667115 0.7182 0.78 1 T 0.000 P -0.963 T 0.132 T 0.22 T Uncertain 1_12786070_A->G 1 12786070 12786070 A G snp 381.77 1/1 30 10 0 10 1.0 UTR3 rs3000930 AADACL3 AU 0.763578 0.7798 Uncertain 1_12820870_T->C 1 12820870 12820870 T C snp 4604.77 1/1 99 157 0 157 1.0 exonic rs1132185 C1orf158 AU nonsynonymous SNV NM_152290 exon4 c.T571C p.F191L 0.823482 0.7808 0.824619 0.7952 0.7792 0.58 T 0.0 P -0.993 T 0.0 T 0.0 T Pathogenic 1_12835868_T->C 1 12835868 12835868 T C snp 1604.77 0/1 99 146 78 68 0.47 exonic rs1812242 PRAMEF12 AU nonsynonymous SNV NM_001080830 exon2 c.T470C p.M157T 0.716454 0.7183 0.736814 0.7739 0.7309 0.56 T 0.0 P -0.995 T 0.0 T 0.0 T Pathogenic 1_12837634_T->A 1 12837634 12837634 T A snp 720.77 0/1 99 63 33 30 0.48 exonic rs848578 PRAMEF12 AU synonymous SNV NM_001080830 exon3 c.T1344A p.I448I 0.663339 0.7192 0.682224 0.7635 0.7331 Uncertain 1_12837840_G->C 1 12837840 12837840 G C snp 142.77 0/1 99 13 8 5 0.38 UTR3 rs848577 PRAMEF12 AU 0.66254 0.7183 Uncertain 1_12854356_T->C 1 12854356 12854356 T C snp 178.77 0/1 99 43 29 14 0.33 exonic rs61775051 PRAMEF1 AU nonsynonymous SNV NM_023013 exon3 c.T580C p.Y194H 0.0067 0.0156 0.17 T 1 N -0.961 T 0.004 T 0.006 T Pathogenic 1_12854414_G->A 1 12854414 12854414 G A snp 875.77 0/1 99 181 115 66 0.36 exonic rs1063769 PRAMEF1 AU nonsynonymous SNV NM_023013 exon3 c.G638A p.R213H 0.3312 0.4230 0.52 T 0.0 P -0.903 T 0.002 T 0.002 T Pathogenic 1_12854530_C->G 1 12854530 12854530 C G snp 2900.77 0/1 99 244 114 130 0.53 exonic rs1063776 PRAMEF1 AU nonsynonymous SNV NM_023013 exon3 c.C754G p.Q252E 0.867212 0.7986 0.872808 0.8553 0.7989 1 T 0.0 P -1.000 T 0.0 T 0.001 T Pathogenic 1_12854583_T->C 1 12854583 12854583 T C snp 1655.77 0/1 99 157 88 69 0.44 exonic rs1063782 PRAMEF1 AU synonymous SNV NM_023013 exon3 c.T807C p.L269L 0.0030 0.0224 Uncertain 1_12888389_A->C 1 12888389 12888389 A C snp 115.77 0/1 84 22 15 7 0.32 exonic rs1830486 PRAMEF11 AU unknown 0.652556 0.8254 0.5426 0.6465 Uncertain 1_12888601_-->C 1 12888601 12888601 - C indel 824.73 1/1 66 22 0 22 1.0 exonic rs113914674 PRAMEF11 AU unknown 0.999601 1 0.9965 0.9987 Uncertain 1_12907199_T->A 1 12907199 12907199 T A snp 130.77 0/1 99 22 16 6 0.27 downstream rs5027837 HNRNPCL1 AU Uncertain 1_12907212_T->A 1 12907212 12907212 T A snp 274.77 0/1 99 33 21 12 0.36 downstream rs5027838 HNRNPCL1 AU 0.2967 0.2314 Uncertain 1_12907282_G->C 1 12907282 12907282 G C snp 854.77 0/1 99 149 101 48 0.32 exonic rs139731855 HNRNPCL1 AU synonymous SNV NM_001146181 exon1 c.C861G p.T287T 0.3646 0.2885 Uncertain 1_12907284_T->C 1 12907284 12907284 T C snp 865.77 0/1 99 151 103 48 0.32 exonic rs149796618 HNRNPCL1 AU nonsynonymous SNV NM_001146181 exon1 c.A859G p.T287A 0.4337 0.3812 1 T 1.000 N -0.932 T 0.0 T 0.001 T Pathogenic 1_12907285_G->C 1 12907285 12907285 G C snp 864.77 0/1 99 154 105 49 0.32 exonic rs148930640 HNRNPCL1 AU nonsynonymous SNV NM_001146181 exon1 c.C858G p.S286R 0.3641 0.2881 0.12 T 0.974 D -1.075 T 0.002 T 0.002 T Pathogenic 1_12907316_T->C 1 12907316 12907316 T C snp 860.77 0/1 99 215 153 62 0.29 exonic rs112607517 HNRNPCL1 AU nonsynonymous SNV NM_001146181 exon1 c.A827G p.E276G 0.3402 0.2327 0.1 T 0.996 P -1.092 T 0.001 T 0.0 T Pathogenic 1_12907350_C->T 1 12907350 12907350 C T snp 675.77 0/1 99 249 188 61 0.24 exonic rs2359486 HNRNPCL1 AU nonsynonymous SNV NM_001146181 exon1 c.G793A p.D265N 0.2818 0.1602 0.34 T 1 N -0.996 T 0.77 T 0.233 P Pathogenic 1_12907351_A->G 1 12907351 12907351 A G snp 658.77 0/1 99 249 188 61 0.24 exonic rs2359485 HNRNPCL1 AU synonymous SNV NM_001146181 exon1 c.T792C p.D264D 0.2854 0.1649 Uncertain 1_12907370_A->T 1 12907370 12907370 A T snp 411.77 0/1 99 250 210 40 0.16 exonic rs2076063 HNRNPCL1 AU nonsynonymous SNV NM_001146181 exon1 c.T773A p.V258D 0.3316 0.2961 0.46 T 1 N -0.936 T 0.0 T 0.0 T Pathogenic 1_12907379_T->C 1 12907379 12907379 T C snp 2165.77 0/1 99 246 152 94 0.38 exonic rs74055698 HNRNPCL1 AU nonsynonymous SNV NM_001146181 exon1 c.A764G p.D255G 0.232029 0.3026 0.2109 0.3202 0.44 T 0.115 P -0.951 T 0.999 D 0.991 D Pathogenic 1_12907380_C->A 1 12907380 12907380 C A snp 208.77 0/1 99 246 214 32 0.13 exonic rs141207681 HNRNPCL1 AU nonsynonymous SNV NM_001146181 exon1 c.G763T p.D255Y 0.0617 0.0372 0.08 T 0.691 N -1.059 T 1.0 D 0.998 D Pathogenic 1_12907385_G->A 1 12907385 12907385 G A snp 172.77 0/1 99 250 216 34 0.14 exonic rs150590256 HNRNPCL1 AU nonsynonymous SNV NM_001146181 exon1 c.C758T p.P253L 0.1663 0.1727 0.12 T 0.996 N -0.915 T 0.0 T 0.0 T Pathogenic 1_12907449_C->G 1 12907449 12907449 C G snp 1436.77 0/1 99 250 188 62 0.25 exonic rs78163065 HNRNPCL1 AU nonsynonymous SNV NM_001146181 exon1 c.G694C p.D232H 0.036840 0.0588 0.2319 0.02 T 0.997 D -0.873 T 0.003 T 0.006 T Pathogenic 1_12907496_T->C 1 12907496 12907496 T C snp 1324.77 0/1 99 237 177 60 0.25 exonic rs138700801 HNRNPCL1 AU nonsynonymous SNV NM_001146181 exon1 c.A647G p.K216R 0.018487 0.0587 0.2321 0.19 T 1 N -0.966 T 0.258 T 0.05 T Pathogenic 1_12907507_C->T 1 12907507 12907507 C T snp 1282.77 0/1 99 231 170 61 0.26 exonic rs12409975 HNRNPCL1 AU synonymous SNV NM_001146181 exon1 c.G636A p.E212E 0.0742812 0.2242 0.0600 0.2331 Uncertain 1_12907508_T->C 1 12907508 12907508 T C snp 1214.77 0/1 99 231 173 58 0.25 exonic rs138145027 HNRNPCL1 AU nonsynonymous SNV NM_001146181 exon1 c.A635G p.E212G 0.0742812 0.2242 0.0599 0.2332 0.37 T 1.000 N -0.988 T 0.0 T 0.0 T Pathogenic 1_12907533_T->C 1 12907533 12907533 T C snp 1033.77 0/1 99 217 166 51 0.24 exonic rs141872266 HNRNPCL1 AU nonsynonymous SNV NM_001146181 exon1 c.A610G p.I204V 0.018481 0.0588 0.2322 0.01 T 0.663 N -1.062 T 0.014 T 0.009 T Pathogenic 1_12907633_G->A 1 12907633 12907633 G A snp 530.77 0/1 99 98 71 27 0.28 exonic rs75660350 HNRNPCL1 AU synonymous SNV NM_001146181 exon1 c.C510T p.S170S 0.035978 0.0596 0.2341 Uncertain 1_12907762_T->C 1 12907762 12907762 T C snp 514.77 0/1 99 250 210 40 0.16 exonic rs57026768 HNRNPCL1 AU synonymous SNV NM_001146181 exon1 c.A381G p.P127P 0.0576 0.2292 Uncertain 1_12907777_T->C 1 12907777 12907777 T C snp 2570.77 0/1 99 250 133 117 0.47 exonic rs1737104 HNRNPCL1 AU synonymous SNV NM_001146181 exon1 c.A366G p.G122G 0.4389 0.4606 Uncertain 1_12907781_T->C 1 12907781 12907781 T C snp 1662.77 0/1 99 249 160 89 0.36 exonic rs28441396 HNRNPCL1 AU nonsynonymous SNV NM_001146181 exon1 c.A362G p.D121G 0.000599042 0.002 0.4062 0.3004 0.11 T 0.999 P -1.083 T 0.188 T 0.1 T Pathogenic 1_12907798_A->C 1 12907798 12907798 A C snp 1780.77 0/1 99 250 156 94 0.38 exonic rs150096254 HNRNPCL1 AU nonsynonymous SNV NM_001146181 exon1 c.T345G p.F115L 0.4921 0.4695 0.41 T 0.987 P -0.989 T 0.001 T 0.002 T Pathogenic 1_12907802_C->T 1 12907802 12907802 C T snp 1634.77 0/1 99 248 160 88 0.35 exonic rs138087690 HNRNPCL1 AU nonsynonymous SNV NM_001146181 exon1 c.G341A p.G114D 0.4938 0.4712 0.43 T 0.000 P -0.949 T 0.0 T 0.0 T Pathogenic 1_12907803_C->T 1 12907803 12907803 C T snp 1733.77 0/1 99 249 159 90 0.36 exonic rs141460546 HNRNPCL1 AU nonsynonymous SNV NM_001146181 exon1 c.G340A p.G114S 0.4939 0.4716 0.41 T 0.000 P -1.010 T 0.0 T 0.0 T Pathogenic 1_12907837_C->T 1 12907837 12907837 C T snp 3712.77 0/1 99 250 107 143 0.57 exonic rs1736811 HNRNPCL1 AU synonymous SNV NM_001146181 exon1 c.G306A p.A102A 0.00738818 0.5023 0.4997 Uncertain 1_12907885_T->C 1 12907885 12907885 T C snp 2885.77 0/1 99 249 144 105 0.42 exonic rs848418 HNRNPCL1 AU synonymous SNV NM_001146181 exon1 c.A258G p.A86A 0.913938 0.8125 0.4959 0.4986 Uncertain 1_12908080_C->T 1 12908080 12908080 C T snp 282.77 0/1 99 250 222 28 0.11 exonic rs41279490 HNRNPCL1 AU synonymous SNV NM_001146181 exon1 c.G63A p.G21G 0.000846 0.0505 0.2025 Uncertain 1_12908130_C->T 1 12908130 12908130 C T snp 378.77 0/1 99 250 226 24 0.1 exonic rs41279492 HNRNPCL1 AU nonsynonymous SNV NM_001146181 exon1 c.G13A p.V5I 0.009457 0.0454 0.1861 0.35 T 0.997 N -0.891 T 0.644 T 0.079 P Pathogenic 1_12908236_G->T 1 12908236 12908236 G T snp 2034.77 0/1 99 182 87 95 0.52 UTR5 rs1736809 HNRNPCL1 AU Uncertain 1_12908243_A->G 1 12908243 12908243 A G snp 1453.77 0/1 99 174 98 76 0.44 UTR5 rs1736808 HNRNPCL1 AU Uncertain 1_12919064_T->G 1 12919064 12919064 T G snp 381.77 0/1 99 106 84 22 0.21 exonic rs3204790 PRAMEF2 AU nonsynonymous SNV NM_023014 exon2 c.T200G p.V67G 0.186502 0.3333 0.153917 0.1701 0.3231 1 T 0.000 P -0.972 T 0.0 T 0.0 T Pathogenic 1_12919111_G->A 1 12919111 12919111 G A snp 340.77 0/1 99 73 56 17 0.23 exonic rs9728577 PRAMEF2 AU nonsynonymous SNV NM_023014 exon2 c.G247A p.E83K 0.032477 0.0582 0.2314 0.05 T 1 N -0.928 T 0.012 T 0.015 T Pathogenic 1_12919173_A->G 1 12919173 12919173 A G snp 91.77 0/1 99 23 17 6 0.26 intronic rs9308464 PRAMEF2 AU NM_023014 exon2 c.287+22A>G 0.195887 0.3353 0.136287 0.1714 0.3234 Uncertain 1_12919872_T->G 1 12919872 12919872 T G snp 1414.77 0/1 99 166 105 61 0.37 exonic rs3204798 PRAMEF2 AU nonsynonymous SNV NM_023014 exon3 c.T612G p.I204M 0.0776757 0.2292 0.037887 0.0596 0.2349 0.11 T 1 N -0.895 T 0.002 T 0.018 T Pathogenic 1_12919891_G->T 1 12919891 12919891 G T snp 1486.77 0/1 99 201 132 69 0.34 exonic rs75411676 PRAMEF2 AU stopgain NM_023014 exon3 c.G631T p.E211X 0.037887 0.0594 0.2346 0.06 T 1 A ID=CM1212930;DIS=Potential protein deficiency;TAG=DM?;PUB=22865819 DM? Pathogenic 1_12919934_A->G 1 12919934 12919934 A G snp 1620.77 0/1 99 250 177 73 0.29 exonic rs3204805 PRAMEF2 AU nonsynonymous SNV NM_023014 exon3 c.A674G p.Y225C 0.169529 0.3125 0.151524 0.1534 0.3064 0.02 T 0.0 P -0.906 T 0.022 T 0.067 T Pathogenic 1_12920132_A->G 1 12920132 12920132 A G snp 337.77 0/1 99 46 32 14 0.3 splicing rs58524511 PRAMEF2 AU NM_023014 exon3 c.1262+6A>G 0.0583 0.2266 Pathogenic 1_12920139_T->C 1 12920139 12920139 T C snp 203.77 0/1 99 37 28 9 0.24 intronic rs201144653 PRAMEF2 AU NM_023014 exon3 c.1262+13T>C 0.0004 0 Uncertain 1_12920140_G->A 1 12920140 12920140 G A snp 204.77 0/1 99 37 28 9 0.24 intronic rs202064543 PRAMEF2 AU NM_023014 exon3 c.1262+14G>A 0.0004 0 Uncertain 1_12920143_C->T 1 12920143 12920143 C T snp 206.77 0/1 99 36 27 9 0.25 intronic rs200616844 PRAMEF2 AU NM_023014 exon3 c.1262+17C>T Uncertain 1_12920191_T->C 1 12920191 12920191 T C snp 38.77 0/1 31 3 1 2 0.67 intronic rs57640138 PRAMEF2 AU NM_023014 exon3 c.1262+65T>C Uncertain 1_12921127_A->G 1 12921127 12921127 A G snp 1096.77 0/1 99 212 155 57 0.27 exonic rs1063785 PRAMEF2 AU synonymous SNV NM_023014 exon4 c.A918G p.L306L 0.322684 0.3472 0.306893 0.2648 0.3227 Uncertain 1_12921229_A->C 1 12921229 12921229 A C snp 188.77 0/1 99 72 60 12 0.17 exonic rs1063789 PRAMEF2 AU synonymous SNV NM_023014 exon4 c.A1020C p.L340L 0.0197684 0.0496 0.002770 0.0072 0.0162 Uncertain 1_13183439_T->C 1 13183439 13183439 T C snp 6899.77 1/1 99 243 0 243 1.0 exonic rs28713604 HNRNPCL2 AU nonsynonymous SNV NM_001136561 exon2 c.A434G p.H145R 0.679712 0.7163 0.7542 0.7790 Pathogenic 1_13183511_T->C 1 13183511 13183511 T C snp 1788.77 0/1 99 250 163 87 0.35 exonic rs1737105 HNRNPCL2 AU nonsynonymous SNV NM_001136561 exon2 c.A362G p.D121G 0.5000 0.5 Pathogenic 1_13183528_A->C 1 13183528 13183528 A C snp 1262.77 0/1 99 244 178 66 0.27 exonic rs76937665 HNRNPCL2 AU nonsynonymous SNV NM_001136561 exon2 c.T345G p.F115L 0.4995 0.4998 Pathogenic 1_13183532_C->T 1 13183532 13183532 C T snp 1273.77 0/1 99 242 177 65 0.27 exonic rs77505369 HNRNPCL2 AU nonsynonymous SNV NM_001136561 exon2 c.G341A p.G114D 0.4992 0.4998 Pathogenic 1_13183533_C->T 1 13183533 13183533 C T snp 1275.77 0/1 99 244 180 64 0.26 exonic rs77556803 HNRNPCL2 AU nonsynonymous SNV NM_001136561 exon2 c.G340A p.G114S 0.4992 0.4998 Pathogenic 1_13183567_C->T 1 13183567 13183567 C T snp 882.77 0/1 99 250 195 55 0.22 exonic rs78160026 HNRNPCL2 AU synonymous SNV NM_001136561 exon2 c.G306A p.A102A 0.00159744 0.4769 0.4573 Uncertain 1_13183573_G->T 1 13183573 13183573 G T snp 833.77 0/1 99 247 195 52 0.21 exonic rs76669210 HNRNPCL2 AU synonymous SNV NM_001136561 exon2 c.C300A p.S100S 0.0491214 0.129 0.4782 0.4700 Uncertain 1_13183578_G->C 1 13183578 13183578 G C snp 66.77 0/1 95 250 221 29 0.12 exonic rs115194400 HNRNPCL2 AU nonsynonymous SNV NM_001136561 exon2 c.C295G p.R99G 0.0222 0.1092 Pathogenic 1_13183631_A->T 1 13183631 13183631 A T snp 74.77 0/1 99 189 168 21 0.11 exonic rs80009603 HNRNPCL2 AU nonsynonymous SNV NM_001136561 exon2 c.T242A p.V81D 0.0329473 0.0903 0.0022 0.0015 Pathogenic 1_13183966_G->T 1 13183966 13183966 G T snp 711.77 0/1 99 131 60 71 0.54 UTR5 rs80025711 HNRNPCL2 AU 0.00798722 0.0149 Uncertain 1_13183973_G->A 1 13183973 13183973 G A snp 1022.77 0/1 99 119 69 50 0.42 UTR5 rs3929664 HNRNPCL2 AU 0.568291 0.5228 Uncertain 1_13184008_A->C 1 13184008 13184008 A C snp 290.77 0/1 99 27 11 16 0.59 UTR5 rs79143802 HNRNPCL2 AU 0.0299521 0.003 Uncertain 1_13475186_A->G 1 13475186 13475186 A G snp 73.77 0/1 99 119 57 62 0.52 intergenic rs201814272 PRAMEF5 AU 0.0798722 0.2679 0.0943 0.3251 0.17 T 1 N -0.952 T 0.0 T 0.0 T Uncertain 1_13695974_T->C 1 13695974 13695974 T C snp 446.77 1/1 42 74 47 27 0.36 exonic rs12119874 PRAMEF19 AU nonsynonymous SNV NM_001099790 exon3 c.A991G p.T331A 0.99381 0.998 0.3948 0.9277 0.59 T 0.0 P -1.088 T 0.0 T 0.001 T Pathogenic 1_13696022_A->G 1 13696022 13696022 A G snp 253.77 1/1 30 91 28 63 0.69 exonic rs201136502 PRAMEF19 AU nonsynonymous SNV NM_001099790 exon3 c.T943C p.W315R 0.995208 0.999 0.6641 0.9474 0.18 T 1 N -0.958 T 0.0 T 0.0 T Pathogenic 1_13696029_A->G 1 13696029 13696029 A G snp 246.77 1/1 30 93 72 21 0.23 exonic rs2359295 PRAMEF19 AU synonymous SNV NM_001099790 exon3 c.T936C p.C312C 0.992412 0.999 0.7647 0.9634 Uncertain 1_13696047_A->T 1 13696047 13696047 A T snp 217.78 1/1 27 94 71 23 0.24 exonic rs2101624 PRAMEF19 AU nonsynonymous SNV NM_001099790 exon3 c.T918A p.D306E 0.993011 0.999 0.7011 0.9357 0.09 T 0.0 P -1.054 T 0.0 T 0.0 T Pathogenic 1_13696054_G->A 1 13696054 13696054 G A snp 125.84 1/1 18 89 70 19 0.21 exonic rs200378484 PRAMEF19 AU nonsynonymous SNV NM_001099790 exon3 c.C911T p.S304F 0.99381 0.999 0.6445 0.9394 0.69 T 0.0 P -1.081 T 0.0 T 0.002 T Pathogenic 1_13696090_T->C 1 13696090 13696090 T C snp 75.03 1/1 12 74 59 15 0.2 exonic rs731980 PRAMEF19 AU nonsynonymous SNV NM_001099790 exon3 c.A875G p.K292R 0.995208 0.999 0.8949 0.9922 0.26 T 0.0 P -0.986 T 0.001 T 0.007 T Pathogenic 1_13802325_T->C 1 13802325 13802325 T C snp 267.77 0/1 99 34 22 12 0.35 exonic rs3013105 LRRC38 AU nonsynonymous SNV NM_001010847 exon2 c.A874G p.K292E 0.462061 0.62 0.4142 0.6045 1 T 0.0 P -0.922 T 0.0 T 0.0 T Pathogenic 1_13802437_G->A 1 13802437 13802437 G A snp 1529.77 0/1 99 131 63 68 0.52 exonic rs3013106 LRRC38 AU synonymous SNV NM_001010847 exon2 c.C762T p.S254S 0.324681 0.3879 0.2701 0.375 Uncertain 1_13839382_C->G 1 13839382 13839382 C G snp 398.77 0/1 99 19 5 14 0.74 intronic rs2990682 LRRC38 AU NM_001010847 exon2 c.37144-75C>G 0.414736 0.6359 Uncertain 1_13910417_C->T 1 13910417 13910417 C T snp 7893.77 1/1 99 250 1 249 1.0 exonic rs355025 PDPN AU synonymous SNV NM_006474 exon1 c.C117T p.P39P 0.563099 0.6577 0.405668 0.4473 0.7028 Uncertain 1_13940864_C->G 1 13940864 13940864 C G snp 4585.77 1/1 99 175 0 175 1.0 exonic rs2486188 PDPN AU nonsynonymous SNV NM_001006624 exon5 c.C314G p.A105G 0.98143 1 0.966861 0.9552 0.9999 1 T 0.000 P -0.947 T 0.0 T 0.0 T Pathogenic 1_14042309_G->A 1 14042309 14042309 G A snp 221.77 0/1 99 19 11 8 0.42 intronic rs7411176 PRDM2 AU NM_012231 exon2 c.9+200G>A 0.163738 0.2163 Uncertain 1_14059395_T->C 1 14059395 14059395 T C snp 398.77 0/1 99 22 7 15 0.68 intronic rs33969518 PRDM2 AU NM_012231 exon4 c.17277+18T>C 0.167133 0.2282 0.164922 0.2312 0.2223 Uncertain 1_14096821_T->C 1 14096821 14096821 T C snp 585.77 0/1 99 54 29 25 0.46 intronic rs1210110 PRDM2 AU NM_012231 exon7 c.57472-2751T>C 0.173922 0.2292 0.176204 0.2320 0.2289 Uncertain 1_14099763_C->T 1 14099763 14099763 C T snp 1076.77 0/1 99 82 40 42 0.51 intronic rs10803426 PRDM2 AU NM_012231 exon7 c.57583+80C>T 0.317692 0.373 0.302453 Uncertain 1_14105139_T->A 1 14105139 14105139 T A snp 2236.77 0/1 99 186 94 92 0.49 exonic rs2076324 PRDM2 AU nonsynonymous SNV NM_012231 exon8 c.T849A p.D283E 0.371206 0.3988 0.320621 0.3563 0.3538 1 T 0.000 P -1.058 T 0.005 T 0.002 T Pathogenic 1_14105298_G->A 1 14105298 14105298 G A snp 2970.77 0/1 99 250 123 127 0.51 exonic rs1203678 PRDM2 AU synonymous SNV NM_012231 exon8 c.G1008A p.E336E 0.316294 0.373 0.310395 0.3560 0.3673 Uncertain 1_14106394_-->CTC 1 14106394 14106394 - CTC indel 4026.73 0/1 99 201 105 96 0.48 exonic rs2308040 PRDM2 AU nonframeshift insertion NM_012231 exon8 c.2104_2105insCTC p.T702delinsTP 0.470133 0.4687 0.6027 ID=COSM112121;OCCURENCE=1(ovary),1(upper_aerodigestive_tract) Uncertain 1_14109114_A->G 1 14109114 14109114 A G snp 1760.77 0/1 99 151 78 73 0.48 exonic rs1203651 PRDM2 AU synonymous SNV NM_012231 exon8 c.A4824G p.S1608S 0.365016 0.3988 0.330847 0.3881 0.3830 Uncertain 1_14143003_A->G 1 14143003 14143003 A G snp 4752.77 1/1 99 180 1 179 0.99 exonic rs1046331 PRDM2 AU synonymous SNV NM_012231 exon9 c.A5118G p.P1706P 0.821286 0.7073 0.874443 0.8256 0.7162 0.49 T 0.000 P -1.038 T 0.0 T 0.0 T Likely benign 1_14149505_C->A 1 14149505 14149505 C A snp 601.77 1/1 45 22 0 22 1.0 intronic rs2697970 PRDM2 AU NM_012231 exon10 c.107553-148C>A 0.714257 0.621 Uncertain 1_14149601_C->T 1 14149601 14149601 C T snp 2965.77 1/1 99 110 1 109 0.99 intronic rs2697969 PRDM2 AU NM_012231 exon10 c.107553-52C>T 0.714257 0.621 0.745948 Uncertain 1_14149622_T->C 1 14149622 14149622 T C snp 3185.74 1/1 99 125 3 122 0.98 intronic rs2697968 PRDM2 AU NM_012231 exon10 c.107553-31T>C 0.714657 0.621 0.751359 0.7510 0.6371 Uncertain 1_14149844_T->A 1 14149844 14149844 T A snp 139.03 1/1 12 4 0 4 1.0 UTR3 rs1046333 PRDM2 AU Uncertain 1_14220186_A->G 1 14220186 14220186 A G snp 1038.77 0/1 99 109 61 48 0.44 intergenic rs1358577 PRDM2 AU 0.315695 0.1052 0.3075 0.1193 0.71 T -0.948 T Uncertain 1_14507057_A->G 1 14507057 14507057 A G snp 2187.77 0/1 99 158 70 88 0.56 intergenic rs10928050 PRDM2 AU 0.163339 0.3611 0.1373 0.3776 0.12 T -0.999 T Uncertain 1_15370458_G->C 1 15370458 15370458 G C snp 769.77 0/1 99 46 18 28 0.61 intronic rs41310369 KAZN AU NM_015209 exon4 c.444991-26G>C 0.0597045 0.0685 0.078911 0.1062 0.0833 Uncertain 1_15370755_G->A 1 15370755 15370755 G A snp 43.77 0/1 72 4 2 2 0.5 intronic rs11808219 KAZN AU NM_015209 exon4 c.445162+100G>A 0.187101 0.0675 Uncertain 1_15386628_T->C 1 15386628 15386628 T C snp 3518.77 1/1 99 128 0 128 1.0 intronic rs2073091 KAZN AU NM_015209 exon6 c.461174-39T>C 0.271565 0.6151 0.147394 0.2189 0.6268 Uncertain 1_15390145_A->G 1 15390145 15390145 A G snp 5618.77 1/1 99 210 0 210 1.0 intronic rs2076565 KAZN AU NM_015209 exon7 c.464625+27A>G 0.460264 0.7133 0.354836 0.3136 0.7035 Uncertain 1_15390178_C->T 1 15390178 15390178 C T snp 4208.77 1/1 99 142 0 142 1.0 intronic rs2076564 KAZN AU NM_015209 exon7 c.464625+60C>T 0.432708 0.6746 0.333333 Uncertain 1_15390211_G->A 1 15390211 15390211 G A snp 3243.77 1/1 99 99 0 99 1.0 intronic rs2076563 KAZN AU NM_015209 exon7 c.464625+93G>A 0.4373 0.6736 Uncertain 1_15427934_C->T 1 15427934 15427934 C T snp 205.77 0/1 99 19 12 7 0.37 intronic rs10927676 KAZN AU NM_201628 exon11 c.502545-104C>T 0.50599 0.7688 Uncertain 1_15427982_G->A 1 15427982 15427982 G A snp 637.77 0/1 99 54 29 25 0.46 intronic rs502918 KAZN AU NM_201628 exon11 c.502545-56G>A 0.598043 0.8393 Uncertain 1_15428358_T->C 1 15428358 15428358 T C snp 502.77 1/1 39 15 0 15 1.0 intronic rs477953 KAZN AU NM_201628 exon11 c.502777+88T>C 0.944089 0.9901 Uncertain 1_15438826_TGTGTGTGTGTGTG->- 1 15438826 15438839 TGTGTGTGTGTGTG - indel 1405.74 1/1 27 9 0 9 1.0 ncRNA_exonic rs139705142 TMEM51-AS1 AU Uncertain 1_15438990_G->A 1 15438990 15438990 G A snp 2158.77 0/1 99 204 105 99 0.49 exonic rs10803354 KAZN AU nonsynonymous SNV NM_201628 exon14 c.G2116A p.A706T 0.442093 0.6558 0.362923 0.4799 0.6988 0.17 T 1.000 P -1.025 T 0.001 T 0.002 T Pathogenic 1_15441090_C->T 1 15441090 15441090 C T snp 386.77 0/1 99 48 31 17 0.35 exonic rs12048768 KAZN AU nonsynonymous SNV NM_201628 exon15 c.C2287T p.R763C 0.0513179 0.1746 0.002537 0.0327 0.2165 0.01 T 1.000 P -1.048 T 0.016 T 0.002 T Pathogenic 1_15490865_T->A 1 15490865 15490865 T A snp 5511.77 1/1 99 214 0 214 1.0 exonic rs61561984 C1orf195 AU nonsynonymous SNV NM_001278502 exon3 c.A191T p.Y64F 0.226438 0.5228 0.1939 0.6515 0 D 0.0 P -0.934 T Pathogenic 1_15497727_T->C 1 15497727 15497727 T C snp 1988.77 1/1 99 75 0 75 1.0 exonic rs6429722 C1orf195 AU synonymous SNV NM_001278501 exon2 c.A48G p.R16R 0.95627 0.994 0.9663 0.9979 Uncertain 1_15497844_T->A 1 15497844 15497844 T A snp 1389.77 1/1 99 54 0 54 1.0 intronic rs10429935 C1orf195 AU NM_001278502 exon2 c.6972+33T>A 0.758586 0.9712 Uncertain 1_15497954_A->G 1 15497954 15497954 A G snp 93.28 1/1 9 3 0 3 1.0 intronic rs6689923 C1orf195 AU NM_001278502 exon2 c.6972+143A>G 0.748203 0.9712 Uncertain 1_15541407_C->T 1 15541407 15541407 C T snp 288.78 1/1 24 8 0 8 1.0 UTR5 rs3753316 TMEM51 AU 0.41234 0.5437 Uncertain 1_15541537_C->T 1 15541537 15541537 C T snp 1853.77 1/1 99 66 0 66 1.0 UTR5 rs3753314 TMEM51 AU 0.857228 0.9762 0.813271 0.8753 0.9715 Uncertain 1_15573775_A->G 1 15573775 15573775 A G snp 271.8 1/1 21 13 0 13 1.0 UTR5 rs1780598 FHAD1 AU 0.548323 0.4315 0.7273 . Uncertain 1_15578195_T->C 1 15578195 15578195 T C snp 713.77 1/1 54 19 0 19 1.0 intronic rs1622686 FHAD1 AU 0.502796 0.4127 Uncertain 1_15599021_C->T 1 15599021 15599021 C T snp 106.77 0/1 99 7 3 4 0.57 exonic rs6679905 FHAD1 AU nonsynonymous SNV NM_052929 exon3 c.C296T p.P99L 0.10643 0.1389 0.0463 0.1446 0.01 T 0.000 P -1.050 T 0.731 T 0.154 P Pathogenic 1_15599025_G->A 1 15599025 15599025 G A snp 83.77 0/1 69 5 2 3 0.6 exonic rs75432354 FHAD1 AU synonymous SNV NM_052929 exon3 c.G300A p.P100P 0.127596 0.1409 0.123522 0.1699 0.1598 Uncertain 1_15599069_G->A 1 15599069 15599069 G A snp 54.74 1/1 6 2 0 2 1.0 intronic rs56987602 FHAD1 AU NM_052929 exon3 c.20745+44G>A 0.16274 0.1409 0.1793 0.1509 Uncertain 1_15616183_T->C 1 15616183 15616183 T C snp 1540.77 0/1 99 106 41 65 0.61 intronic rs487338 FHAD1 AU NM_052929 exon4 c.37882+21T>C 0.461861 0.3026 0.5015 0.3168 Uncertain 1_15623214_A->G 1 15623214 15623214 A G snp 1153.77 0/1 99 128 76 52 0.41 exonic rs12032022 FHAD1 AU synonymous SNV NM_052929 exon5 c.A603G p.S201S 0.0465256 0.0923 0.018397 0.0193 0.0935 0.51 T 1 N -1.071 T Likely benign 1_15650784_T->G 1 15650784 15650784 T G snp 185.77 0/1 99 14 8 6 0.43 intronic rs3765354 FHAD1 AU NM_052929 exon11 c.72667-163T>G 0.309704 0.0724 Uncertain 1_15650791_G->C 1 15650791 15650791 G C snp 225.77 0/1 99 17 8 9 0.53 intronic rs3765355 FHAD1 AU NM_052929 exon11 c.72667-156G>C 0.309505 0.0724 Uncertain 1_15651062_A->G 1 15651062 15651062 A G snp 1024.77 0/1 99 94 53 41 0.44 intronic rs3765356 FHAD1 AU NM_052929 exon11 c.72775+7A>G 0.311102 0.0724 0.344503 0.3406 0.0675 Uncertain 1_15653503_A->G 1 15653503 15653503 A G snp 1309.77 0/1 99 118 55 63 0.53 intronic rs7532559 FHAD1 AU NM_052929 exon12 c.75274-51A>G 0.32488 0.0724 0.353263 Uncertain 1_15653563_C->T 1 15653563 15653563 C T snp 1969.77 0/1 99 176 90 86 0.49 exonic rs3765357 FHAD1 AU synonymous SNV NM_052929 exon12 c.C1482T p.H494H 0.221046 0.0486 0.254709 0.2988 0.0539 1.000 P -0.938 T Likely benign 1_15654737_-->T 1 15654737 15654737 - T indel 80.73 0/1 99 38 21 17 0.45 intronic rs144888008 FHAD1 AU NM_052929 exon13 c.76492-35insT 0.2925 0.1122 Uncertain 1_15668276_G->A 1 15668276 15668276 G A snp 685.77 0/1 99 59 30 29 0.49 exonic rs763821 FHAD1 AU nonsynonymous SNV NM_052929 exon15 c.G1951A p.G651R 0.345847 0.0407 0.431888 0.3971 0.0481 0.53 T 0.000 P -0.919 T 0.0 T 0.001 T Pathogenic 1_15671483_G->A 1 15671483 15671483 G A snp 586.77 0/1 99 36 15 21 0.58 intronic rs486089 FHAD1 AU NM_052929 exon16 c.93298-95G>A 0.46865 0.8938 Uncertain 1_15687059_A->G 1 15687059 15687059 A G snp 804.77 0/1 99 66 32 34 0.52 exonic rs4661330 FHAD1 AU nonsynonymous SNV NM_052929 exon21 c.A2756G p.E919G 0.252995 0.2887 0.276391 0.2354 0.2772 0.02 T 0.0 P -1.081 T 1.0 D 0.997 D Pathogenic 1_15714831_C->T 1 15714831 15714831 C T snp 1408.77 1/1 99 42 0 42 1.0 intronic rs6669577 FHAD1 AU NM_052929 exon30 c.130409+6142C>T 0.0069 0.0294 Uncertain 1_15754484_T->C 1 15754484 15754484 T C snp 1256.77 1/1 90 45 0 45 1.0 intronic rs2473356 EFHD2 AU NM_024329 exon4 c.18621-604T>C 0.912141 0.998 0.8660 1 0.0 P -1.021 T Uncertain 1_15769139_G->A 1 15769139 15769139 G A snp 2185.77 1/1 99 67 0 67 1.0 intronic rs3765373 CTRC AD NM_007272 exon4 c.4108+71G>A 0.182907 0.498 Uncertain 1_15769876_-->C 1 15769876 15769876 - C indel 2956.73 1/1 99 74 0 74 1.0 intronic rs35149641 CTRC AD NM_007272 exon5 c.4953-37insC 1 1 1.0000 1 Uncertain 1_15783097_A->- 1 15783097 15783097 A - indel 5858.73 1/1 99 199 0 199 1.0 upstream rs5772641 CELA2A AU 0.827276 0.8264 Uncertain 1_15783117_-->A 1 15783117 15783117 - A indel 10469.7 1/1 99 249 0 249 1.0 upstream rs397795356 CELA2A AU 0.965855 0.9831 Uncertain 1_15783553_-->G 1 15783553 15783553 - G indel 3448.73 0/1 99 192 96 96 0.5 intronic rs35457461 CELA2A AU NM_033440 exon2 c.332-27insG 0.145168 0.0357 0.183836 0.1446 0.0418 Uncertain 1_15788269_A->C 1 15788269 15788269 A C snp 1513.77 0/1 99 128 67 61 0.48 intronic rs3737696 CELA2A AU NM_033440 exon3 c.4905+116A>C 0.676717 0.744 0.7439 0.7644 Uncertain 1_15788491_C->T 1 15788491 15788491 C T snp 619.77 0/1 99 66 38 28 0.42 intronic rs3737697 CELA2A AU NM_033440 exon3 c.4905+338C>T 0.288339 0.2391 Uncertain 1_15788630_G->A 1 15788630 15788630 G A snp 181.77 0/1 99 25 16 9 0.36 intronic rs7512589 CELA2A AU NM_033440 exon3 c.4905+477G>A 0.288339 0.2391 0.2745 0.2247 Uncertain 1_15789080_T->G 1 15789080 15789080 T G snp 38.77 0/1 67 5 3 2 0.4 intronic rs3815785 CELA2A AU NM_033440 exon4 c.5979-147T>G 0.291733 0.2391 Uncertain 1_15789176_C->T 1 15789176 15789176 C T snp 1732.77 0/1 99 134 67 67 0.5 intronic rs3815786 CELA2A AU NM_033440 exon4 c.5979-51C>T 0.285942 0.2391 0.272061 Uncertain 1_15789297_A->C 1 15789297 15789297 A C snp 2688.77 0/1 99 250 147 103 0.41 exonic rs3815787 CELA2A AU synonymous SNV NM_033440 exon4 c.A297C p.A99A 0.398762 0.2321 0.425342 0.3399 0.2393 Uncertain 1_15789446_C->G 1 15789446 15789446 C G snp 707.77 0/1 99 46 22 24 0.52 intronic rs3815788 CELA2A AU NM_033440 exon4 c.6108+90C>G 0.397364 0.2321 Uncertain 1_15789450_T->A 1 15789450 15789450 T A snp 649.77 0/1 99 41 20 21 0.51 intronic rs3815789 CELA2A AU NM_033440 exon4 c.6108+94T>A 0.409744 0.2321 Uncertain 1_15792426_C->G 1 15792426 15792426 C G snp 44.77 0/1 33 3 1 2 0.67 intronic rs2901964 CELA2A AU NM_033440 exon6 c.9245-67C>G 0.307308 0.0714 Uncertain 1_15793913_G->A 1 15793913 15793913 G A snp 3220.76 0/1 99 249 110 139 0.56 exonic rs1042010 CELA2A AU synonymous SNV NM_033440 exon7 c.G672A p.A224A 0.179912 0.0446 0.217592 0.1828 0.0507 Uncertain 1_15798433_T->C 1 15798433 15798433 T C snp 683.77 0/1 99 57 30 27 0.47 intronic rs3820070 CELA2A AU NM_033440 exon8 c.15236-51T>C 0.0846645 0.2837 0.022524 Uncertain 1_15808198_C->T 1 15808198 15808198 C T snp 334.77 0/1 99 22 9 13 0.59 intronic rs7520335 CELA2B AU NM_015849 exon3 c.5070+508C>T 0.297324 0.5496 0.2228 0.5474 0 D 0.0 P -1.011 T Uncertain 1_15808702_C->T 1 15808702 15808702 C T snp 1164.77 0/1 99 99 56 43 0.43 intronic rs4661635 CELA2B AU NM_015849 exon4 c.6139-57C>T 0.314896 0.5575 Uncertain 1_15808767_G->A 1 15808767 15808767 G A snp 2579.77 0/1 99 250 139 111 0.44 exonic rs3820071 CELA2B AU nonsynonymous SNV NM_015849 exon4 c.G235A p.G79R 0.326478 0.5685 0.250807 0.2770 0.5567 1 T 0.0 P -0.951 T 0.0 T 0.001 T Pathogenic 1_15808872_G->A 1 15808872 15808872 G A snp 2778.77 0/1 99 237 120 117 0.49 exonic rs3766160 CELA2B AU nonsynonymous SNV NM_015849 exon4 c.G340A p.D114N 0.315096 0.5575 0.250807 0.2711 0.5424 1 T 0.0 P -0.989 T 0.0 T 0.001 T Pathogenic 1_15809876_G->A 1 15809876 15809876 G A snp 2280.77 0/1 99 231 122 109 0.47 exonic rs10927792 CELA2B AU synonymous SNV NM_015849 exon5 c.G474A p.T158T 0.346246 0.5694 0.271538 0.2831 0.5567 Uncertain 1_15812432_A->G 1 15812432 15812432 A G snp 2265.77 1/1 99 80 0 80 1.0 exonic rs6429745 CELA2B AU nonsynonymous SNV NM_015849 exon6 c.A530G p.Q177R 0.993211 1 0.992849 0.9982 0.9995 0.37 T 0.0 P -0.971 T 0.0 T 0.0 T Pathogenic 1_15812665_G->T 1 15812665 15812665 G T snp 283.77 0/1 99 19 9 10 0.53 intronic rs2861484 CELA2B AU NM_015849 exon6 c.9921+124G>T 0.158746 0.0456 Uncertain 1_15813751_C->T 1 15813751 15813751 C T snp 4241.77 1/1 99 148 0 148 1.0 intronic rs2011159 CELA2B AU NM_015849 exon7 c.11159-28C>T 1 1 0.999923 1.0000 1 Uncertain 1_15813969_A->C 1 15813969 15813969 A C snp 2172.77 1/1 99 65 0 65 1.0 intronic rs3737704 CELA2B AU NM_015849 exon7 c.11312+37A>C 0.651558 0.6776 0.653852 0.5760 0.6754 Uncertain 1_15820307_-->C 1 15820307 15820307 - C indel 694.73 0/1 99 43 20 23 0.53 intronic rs2234723 CASP9 AU NM_001229 exon2 c.949-79insC 0.235823 0.0565 0.2696 0.0847 Uncertain 1_15820576_T->A 1 15820576 15820576 T A snp 929.77 1/1 69 25 0 25 1.0 intronic rs2020900 CASP9 AU NM_001229 exon2 c.1059+80T>A 0.634385 0.6538 Uncertain 1_15820607_A->G 1 15820607 15820607 A G snp 509.77 1/1 39 13 0 13 1.0 intronic rs2020895 CASP9 AU NM_001229 exon2 c.1059+111A>G 0.594249 0.6538 Uncertain 1_15820618_A->G 1 15820618 15820618 A G snp 294.78 1/1 24 8 0 8 1.0 intronic rs2020898 CASP9 AU NM_001229 exon2 c.1059+122A>G 0.634385 0.6538 Uncertain 1_15821673_C->T 1 15821673 15821673 C T snp 123.77 0/1 99 18 12 6 0.33 intronic rs4646092 CASP9 AU NM_001229 exon3 c.2330-94C>T 0.235823 0.0565 Uncertain 1_15822043_T->C 1 15822043 15822043 T C snp 203.77 0/1 99 15 7 8 0.53 intronic rs4646091 CASP9 AU NM_001229 exon3 c.2510+96T>C 0.236022 0.0565 Uncertain 1_15822073_A->G 1 15822073 15822073 A G snp 66.77 0/1 95 9 6 3 0.33 intronic rs4646090 CASP9 AU NM_001229 exon3 c.2510+126A>G 0.34365 0.5972 Uncertain 1_15832383_G->T 1 15832383 15832383 G T snp 1509.77 1/1 99 42 0 42 1.0 intronic rs1800614 CASP9 AU NM_001229 exon5 c.13047-101G>T 0.584665 0.6538 Uncertain 1_15832543_T->C 1 15832543 15832543 T C snp 6290.77 1/1 99 235 0 235 1.0 exonic rs1052576 CASP9 AU nonsynonymous SNV NM_001229 exon5 c.A662G p.Q221R 0.584864 0.6538 0.587652 0.5369 0.6510 1 T 0.0 P -0.917 T 0.0 T 0.001 T ID=CM096313;DIS=Multiple sclerosis, association with;TAG=DP;PUB=19359048 DP Pathogenic 1_15834297_G->A 1 15834297 15834297 G A snp 751.77 1/1 57 25 0 25 1.0 intronic rs2020903 CASP9 AU NM_001229 exon7 c.14930-70G>A 0.584265 0.6538 0.582786 Uncertain 1_15834360_A->G 1 15834360 15834360 A G snp 1003.77 0/1 99 75 32 43 0.57 intronic rs2020902 CASP9 AU NM_001229 exon7 c.14930-7A>G 0.0928514 0.0317 0.124250 0.1225 0.0360 Uncertain 1_15834491_G->A 1 15834491 15834491 G A snp 2909.77 1/1 99 114 0 114 1.0 intronic rs4646032 CASP9 AU NM_001229 exon7 c.14965+89G>A 0.584265 0.6538 Uncertain 1_15844615_A->G 1 15844615 15844615 A G snp 1006.77 1/1 75 36 0 36 1.0 exonic rs1132312 CASP9 AU synonymous SNV NM_001229 exon2 c.T408C p.F136F 0.584864 0.6538 0.587498 0.5365 0.6511 Uncertain 1_15844926_C->T 1 15844926 15844926 C T snp 1432.77 1/1 99 47 0 47 1.0 intronic rs1820205 CASP9 AU NM_001229 exon8 c.25453+36C>T 0.584665 0.6538 0.587281 0.5398 0.6515 Uncertain 1_15845022_-->TGAG 1 15845022 15845022 - TGAG indel 969.73 1/1 45 15 0 15 1.0 intronic rs4646006 CASP9 AU NM_001229 exon8 c.25453+132insTGAG 0.583866 0.6538 Uncertain 1_15850553_C->G 1 15850553 15850553 C G snp 50.74 1/1 6 2 0 2 1.0 intronic rs374868466 CASP9 AU NM_001229 exon9 c.31126-10C>G 0.0001 0 Uncertain 1_15850603_G->A 1 15850603 15850603 G A snp 201.77 0/1 99 21 9 12 0.57 exonic rs4645983 CASP9 AU synonymous SNV NM_001229 exon1 c.C93T p.S31S 0.235623 0.0565 0.251437 0.2516 0.0896 Uncertain 1_15850613_G->A 1 15850613 15850613 G A snp 474.77 1/1 36 23 0 23 1.0 exonic rs1052571 CASP9 AU nonsynonymous SNV NM_001229 exon1 c.C83T p.A28V 0.584665 0.6538 0.5026 0.6015 0.4 T 1.000 P -0.987 T 0.793 T 0.303 P Pathogenic 1_15860803_C->T 1 15860803 15860803 C T snp 3040.77 0/1 99 250 126 124 0.5 splicing rs11583306 DNAJC16 AU NM_015291 exon3 c.5198+5C>T 0.229832 0.0466 0.288790 0.2224 0.0490 Pathogenic 1_15873386_A->G 1 15873386 15873386 A G snp 1429.77 0/1 99 145 80 65 0.45 intronic rs7515244 DNAJC16 AU NM_015291 exon6 c.17766+20A>G 0.346246 0.5992 0.292865 0.3131 0.5825 Uncertain 1_15874961_T->A 1 15874961 15874961 T A snp 1294.77 0/1 99 104 53 51 0.49 intronic rs2295626 DNAJC16 AU NM_015291 exon7 c.19323+38T>A 0.346446 0.5992 0.291404 0.3129 0.5836 Uncertain 1_15890355_-->AAG 1 15890355 15890355 - AAG indel 303.73 0/1 99 17 7 10 0.59 intronic DNAJC16 AU NM_015291 exon10 c.34823-68insAAG Uncertain 1_15892415_A->C 1 15892415 15892415 A C snp 1621.77 0/1 99 153 83 70 0.46 exonic rs2236215 DNAJC16 AU synonymous SNV NM_001287811 exon11 c.A664C p.R222R 0.288139 0.0565 0.358757 0.2552 0.0682 Uncertain 1_15901121_C->T 1 15901121 15901121 C T snp 164.77 0/1 99 18 11 7 0.39 intronic rs61213091 AGMAT AU NM_024758 exon2 c.1106-130C>T 0.23722 0.0565 Uncertain 1_15904318_C->T 1 15904318 15904318 C T snp 937.77 0/1 99 74 37 37 0.5 exonic rs11544523 AGMAT AU synonymous SNV NM_024758 exon5 c.G762A p.S254S 0.23742 0.0565 0.293249 0.2248 0.0681 Uncertain 1_15905206_T->A 1 15905206 15905206 T A snp 61.77 0/1 90 6 3 3 0.5 intronic rs6669156 AGMAT AU NM_024758 exon4 c.5208-147T>A 0.251398 0.0565 Uncertain 1_15905501_G->A 1 15905501 15905501 G A snp 1798.77 0/1 99 160 75 85 0.53 exonic rs41270261 AGMAT AU synonymous SNV NM_024758 exon4 c.C573T p.T191T 0.0922524 0.0308 0.124020 0.1231 0.0325 Uncertain 1_15909547_G->A 1 15909547 15909547 G A snp 182.9 1/1 15 5 0 5 1.0 intronic rs6429756 AGMAT AU NM_024758 exon6 c.9542-140G>A 0.613818 0.6359 Uncertain 1_15909625_GAGTACAG->- 1 15909625 15909632 GAGTACAG - indel 3319.73 1/1 93 31 0 31 1.0 intronic rs111921608 AGMAT AU NM_024758 exon6 c.9542-62_9542-55delGAGTACAG 0.612819 0.6359 Uncertain 1_15909744_C->T 1 15909744 15909744 C T snp 677.77 0/1 99 53 23 30 0.57 exonic rs11580170 AGMAT AU nonsynonymous SNV NM_024758 exon2 c.G419A p.R140Q 0.272364 0.0565 0.341458 0.2511 0.0682 0.62 T 0.000 P -0.950 T 0.016 T 0.042 T Pathogenic 1_15909850_C->G 1 15909850 15909850 C G snp 1633.77 1/1 99 65 0 65 1.0 exonic rs6429757 AGMAT AU nonsynonymous SNV NM_024758 exon2 c.G313C p.G105R 0.633187 0.6359 0.653852 0.5669 0.6322 1 T 0.0 P -0.981 T 0.0 T 0.001 T Pathogenic 1_15909895_A->G 1 15909895 15909895 A G snp 1110.77 1/1 78 43 0 43 1.0 splicing rs6429758 AGMAT AU NM_024758 exon6 c.9745+5A>G 0.612819 0.6359 0.632093 0.5731 0.6399 Pathogenic 1_15911010_T->G 1 15911010 15911010 T G snp 419.77 1/1 33 11 0 11 1.0 intronic rs10927807 AGMAT AU NM_024758 exon7 c.11045-180T>G 0.613219 0.6359 Uncertain 1_15911031_T->G 1 15911031 15911031 T G snp 673.77 1/1 54 22 0 22 1.0 intronic rs10927808 AGMAT AU NM_024758 exon7 c.11045-159T>G 0.613219 0.6359 Uncertain 1_15911131_G->A 1 15911131 15911131 G A snp 1618.77 0/1 99 140 73 67 0.48 intronic rs59475085 AGMAT AU NM_024758 exon7 c.11045-59G>A 0.273562 0.0565 Uncertain 1_15911349_G->A 1 15911349 15911349 G A snp 491.77 0/1 99 41 20 21 0.51 exonic rs3737705 AGMAT AU synonymous SNV NM_024758 exon1 c.C114T p.D38D 0.33766 0.5794 0.232192 0.4495 0.6293 Uncertain 1_15911493_A->G 1 15911493 15911493 A G snp 143.03 1/1 12 5 0 5 1.0 UTR5 rs6687474 AGMAT AU 0.612819 0.6359 0.4643 . Uncertain 1_15944384_G->A 1 15944384 15944384 G A snp 1635.77 0/1 99 127 57 70 0.55 intronic rs75354298 DDI2 AU NM_032341 exon1 c.138+81G>A 0.163738 0.0288 Uncertain 1_15956769_G->T 1 15956769 15956769 G T snp 1834.77 0/1 99 174 95 79 0.45 intronic rs72647120 DDI2 AU NM_032341 exon3 c.12654-50G>T 0.251198 0.0317 0.325311 0.2633 0.0280 Uncertain 1_15959886_C->G 1 15959886 15959886 C G snp 1100.77 1/1 78 41 0 41 1.0 intronic rs3795762 DDI2 AU NM_032341 exon4 c.15768-47C>G 0.659944 0.6567 0.680609 0.5998 0.6531 Uncertain 1_15959977_C->T 1 15959977 15959977 C T snp 701.77 0/1 99 81 46 35 0.43 exonic rs3795763 DDI2 AU synonymous SNV NM_032341 exon4 c.C549T p.A183A 0.250998 0.0317 0.327464 0.2642 0.0280 Uncertain 1_15983301_A->G 1 15983301 15983301 A G snp 309.77 0/1 99 14 5 9 0.64 intronic rs941686 DDI2 AU NM_032341 exon9 c.39009+127A>G 0.164337 0.0288 Uncertain 1_15986547_T->C 1 15986547 15986547 T C snp 1451.77 0/1 99 138 74 64 0.46 exonic rs3766163 RSC1A1 AU nonsynonymous SNV NM_006511 exon1 c.T184C p.F62L 0.250799 0.0317 0.327157 0.2642 0.0280 1 T 0.152 P -0.958 T 0.021 T 0.013 T Pathogenic 1_16011005_-->GGC 1 16011005 16011005 - GGC indel 3320.73 1/1 99 65 0 65 1.0 UTR5 rs767880122 PLEKHM2 AU 0.5964 0.5909 ID=COSM1724613;OCCURENCE=1(NS) Uncertain 1_16042766_T->C 1 16042766 16042766 T C snp 468.77 0/1 99 98 69 29 0.3 exonic rs12091750 PLEKHM2 AU nonsynonymous SNV NM_015164 exon2 c.T95C p.I32T 0.323083 0.0367 0.382053 0.3420 0.0494 1 T 0.000 P -0.989 T 0.0 T 0.0 T Pathogenic 1_16043157_G->A 1 16043157 16043157 G A snp 1182.77 0/1 99 117 63 54 0.46 intronic rs2280115 PLEKHM2 AU NM_015164 exon3 c.32148-44G>A 0.186102 0.0337 0.214624 0.1891 0.0202 Uncertain 1_16044401_G->A 1 16044401 16044401 G A snp 1008.77 0/1 99 102 58 44 0.43 exonic rs16851970 PLEKHM2 AU synonymous SNV NM_015164 exon4 c.G291A p.L97L 0.186102 0.0337 0.225659 0.2769 0.0614 Uncertain 1_16044929_A->G 1 16044929 16044929 A G snp 723.77 0/1 99 69 38 31 0.45 intronic rs35757484 PLEKHM2 AU NM_015164 exon5 c.33979-103A>G 0.1873 0.0337 Uncertain 1_16044945_G->A 1 16044945 16044945 G A snp 797.77 0/1 99 80 44 36 0.45 intronic rs12091644 PLEKHM2 AU NM_015164 exon5 c.33979-87G>A 0.323083 0.0367 Uncertain 1_16047726_T->C 1 16047726 16047726 T C snp 548.77 0/1 99 40 21 19 0.47 intronic rs12734937 PLEKHM2 AU NM_015164 exon7 c.36770-97T>C 0.323283 0.0367 Uncertain 1_16048005_A->G 1 16048005 16048005 A G snp 283.77 0/1 99 19 7 12 0.63 intronic rs12091326 PLEKHM2 AU NM_015164 exon7 c.36830+122A>G 0.311502 0.0367 Uncertain 1_16048038_T->C 1 16048038 16048038 T C snp 196.77 0/1 99 14 6 8 0.57 intronic rs12092485 PLEKHM2 AU NM_015164 exon7 c.36830+155T>C 0.311901 0.0367 Uncertain 1_16053493_G->A 1 16053493 16053493 G A snp 410.77 0/1 99 34 18 16 0.47 intronic rs41393951 PLEKHM2 AU NM_015164 exon9 c.42455-15G>A 0.237021 0.0625 0.273813 0.3042 0.1129 Uncertain 1_16055039_C->T 1 16055039 16055039 C T snp 115.77 0/1 99 11 6 5 0.45 intronic rs12724755 PLEKHM2 AU NM_015164 exon12 c.44110-124C>T 0.159944 0.0427 Uncertain 1_16055732_C->T 1 16055732 16055732 C T snp 983.77 0/1 99 93 48 45 0.48 intronic rs6429772 PLEKHM2 AU NM_015164 exon13 c.44632+47C>T 0.313299 0.0704 0.358189 0.2858 0.0924 Uncertain 1_16056364_G->A 1 16056364 16056364 G A snp 901.77 0/1 99 74 38 36 0.49 exonic rs3817269 PLEKHM2 AU synonymous SNV NM_015164 exon14 c.G2148A p.T716T 0.306709 0.0437 0.354102 0.2415 0.0453 Uncertain 1_16058699_A->- 1 16058699 16058699 A - indel 716.73 0/1 99 50 29 21 0.42 intronic rs77293491 PLEKHM2 AU NM_015164 exon18 c.47791-145delA 0.162939 0.0446 Uncertain 1_16064411_T->C 1 16064411 16064411 T C snp 1872.77 0/1 99 125 50 75 0.6 intronic rs937592 SLC25A34 AU NM_207348 exon2 c.1443-12T>C 0.224441 0.0446 0.282177 0.2202 0.0468 Uncertain 1_16069644_C->T 1 16069644 16069644 C T snp 1759.77 0/1 99 124 49 75 0.6 exonic rs11584945 TMEM82 AU synonymous SNV NM_001013641 exon3 c.C291T p.L97L 0.185304 0.0337 0.254192 0.2340 0.0360 Uncertain 1_16091634_C->T 1 16091634 16091634 C T snp 1592.77 0/1 99 114 46 68 0.6 exonic rs138714730 FBLIM1 AU synonymous SNV NM_001024215 exon2 c.C156T p.P52P 0.000399361 0.001 0.000385 0.0004 0.0029 Uncertain 1_16097237_G->A 1 16097237 16097237 G A snp 625.77 1/1 48 18 0 18 1.0 intronic rs10803398 FBLIM1 AU NM_001024216 exon2 c.5595+164G>A 0.815695 0.995 Uncertain 1_16242620_C->A 1 16242620 16242620 C A snp 7054.77 1/1 99 250 0 250 1.0 splicing rs12063905 SPEN AU NM_015001 exon6 c.68060-2C>A 0.120607 0.2222 0.080886 0.1313 0.2388 Pathogenic 1_16245362_G->A 1 16245362 16245362 G A snp 1078.77 1/1 84 34 0 34 1.0 intronic rs848201 SPEN AU NM_015001 exon7 c.70858-58G>A 0.120807 0.2222 Uncertain 1_16255644_C->T 1 16255644 16255644 C T snp 2400.77 1/1 99 85 0 85 1.0 exonic rs848208 SPEN AU nonsynonymous SNV NM_015001 exon11 c.C2909T p.A970V 0.120807 0.2222 0.080886 0.1309 0.2395 0.26 T 0.0 P -1.063 T 0.006 T 0.005 T Pathogenic 1_16256007_T->C 1 16256007 16256007 T C snp 4370.77 1/1 99 152 0 152 1.0 exonic rs848209 SPEN AU nonsynonymous SNV NM_015001 exon11 c.T3272C p.L1091P 0.648962 0.3214 0.687759 0.6154 0.3288 0.43 T 0.000 P -1.030 T 0.0 T 0.0 T Pathogenic 1_16258281_G->A 1 16258281 16258281 G A snp 730.77 0/1 99 75 43 32 0.43 exonic SPEN AU nonsynonymous SNV NM_015001 exon11 c.G5546A p.R1849Q 0.31 T 0.977 D -1.115 T 0.999 D 0.971 D Pathogenic 1_16259813_A->G 1 16259813 16259813 A G snp 3483.77 1/1 99 110 0 110 1.0 exonic rs848210 SPEN AU nonsynonymous SNV NM_015001 exon11 c.A7078G p.N2360D 0.648962 0.3214 0.689605 0.6146 0.3278 0.63 T 0.0 P -1.042 T 0.0 T 0.0 T Pathogenic 1_16260916_C->T 1 16260916 16260916 C T snp 6804.77 1/1 99 242 0 242 1.0 exonic rs848211 SPEN AU synonymous SNV NM_015001 exon11 c.C8181T p.A2727A 0.121206 0.2232 0.081424 0.1311 0.2437 Uncertain 1_16262404_C->T 1 16262404 16262404 C T snp 1661.77 1/1 99 54 0 54 1.0 exonic rs61749277 SPEN AU synonymous SNV NM_015001 exon11 c.C9669T p.S3223S 0.121206 0.2242 0.076229 0.1309 0.2433 Uncertain 1_16264264_G->A 1 16264264 16264264 G A snp 7506.77 1/1 99 250 0 250 1.0 intronic rs848213 SPEN AU NM_015001 exon13 c.89744-42G>A 0.126997 0.2242 0.088575 0.1371 0.2449 Uncertain 1_16265422_A->G 1 16265422 16265422 A G snp 5133.77 1/1 99 177 0 177 1.0 intronic rs848214 SPEN AU NM_015001 exon14 c.90809+51A>G 0.564097 0.3244 0.604336 0.5899 0.3288 Uncertain 1_16271180_T->C 1 16271180 16271180 T C snp 3181.78 1/1 99 120 0 120 1.0 intronic rs848216 ZBTB17 AU NM_003443 exon9 c.2728-11T>C 0.184505 0.2331 0.142165 0.1579 0.2479 Uncertain 1_16272250_A->G 1 16272250 16272250 A G snp 2645.77 1/1 99 89 0 89 1.0 exonic rs848217 ZBTB17 AU synonymous SNV NM_001242884 exon5 c.T375C p.A125A 0.483027 0.3175 0.477192 0.5232 0.3291 Uncertain 1_16274769_C->T 1 16274769 16274769 C T snp 5845.77 1/1 99 202 0 202 1.0 intronic rs698891 ZBTB17 AU NM_003443 exon14 c.6322-16C>T 0.166134 0.2282 0.129094 0.1539 0.2462 Uncertain 1_16330816_C->T 1 16330816 16330816 C T snp 3044.77 1/1 99 113 0 113 1.0 exonic rs1763617 C1orf64 AU synonymous SNV NM_178840 exon1 c.C18T p.D6D 0.195088 0.2917 0.147557 0.2197 0.3558 Uncertain 1_16330937_C->T 1 16330937 16330937 C T snp 811.77 1/1 60 29 0 29 1.0 intronic rs1763615 C1orf64 AU NM_178840 exon1 c.82+57C>T 0.195088 0.2917 0.147394 Uncertain 1_16332679_T->C 1 16332679 16332679 T C snp 4828.77 1/1 99 155 0 155 1.0 exonic rs3738646 C1orf64 AU synonymous SNV NM_178840 exon2 c.T348C p.S116S 0.0908546 0.2113 0.067738 0.1027 0.2321 Uncertain 1_16344466_C->T 1 16344466 16344466 C T snp 2291.77 1/1 99 73 0 73 1.0 UTR5 rs3738640 HSPB7 AU 0.0904553 0.2123 0.067123 0.1041 0.2318 0.16 T 0.001 P -1.034 T 0.0 T 0.0 T Uncertain 1_16344684_G->A 1 16344684 16344684 G A snp 1320.77 1/1 96 50 0 50 1.0 UTR5 rs56783248 HSPB7 AU 0.0902556 0.2123 0.0572 0.2179 Uncertain 1_16344730_T->C 1 16344730 16344730 T C snp 643.77 1/1 48 19 0 19 1.0 UTR5 rs945418 HSPB7 AU 0.748802 0.9762 0.6451 0.9591 Uncertain 1_16349336_C->T 1 16349336 16349336 C T snp 2008.77 1/1 99 75 0 75 1.0 intronic rs61771056 CLCNKA AO NM_004070 exon2 c.100+122C>T 0.100439 0.2063 Uncertain 1_16352946_G->A 1 16352946 16352946 G A snp 770.77 0/1 99 87 52 35 0.4 intronic CLCNKA AO NM_004070 exon6 c.3916-84G>A Uncertain 1_16353400_T->C 1 16353400 16353400 T C snp 305.78 1/1 24 10 0 10 1.0 intronic rs9442216 CLCNKA AO NM_004070 exon7 c.4156+130T>C 0.751198 0.9752 Uncertain 1_16354280_G->C 1 16354280 16354280 G C snp 92.28 1/1 9 5 1 4 0.8 intronic rs10927889 CLCNKA AO NM_004070 exon9 c.5201-35G>C 0.642372 0.875 0.6290 0.8903 Uncertain 1_16354590_A->T 1 16354590 16354590 A T snp 4582.77 1/1 99 165 1 164 0.99 exonic rs12126269 CLCNKA AO nonsynonymous SNV NM_004070 exon10 c.A944T p.Y315F 0.154553 0.2123 0.187788 0.2070 0.2278 0.71 T 0.0 P -1.067 T 0.0 T 0.001 T Pathogenic 1_16355060_G->A 1 16355060 16355060 G A snp 510.77 0/1 99 57 35 22 0.39 intronic rs80172269 CLCNKA AO NM_004070 exon11 c.6141-195G>A 0.000599042 0.001 0 0 Uncertain 1_16355425_A->G 1 16355425 16355425 A G snp 5500.77 1/1 99 205 2 203 0.99 intronic rs45451292 CLCNKA AO NM_004070 exon11 c.6226+85A>G 0.100639 0.2063 Uncertain 1_16358148_T->C 1 16358148 16358148 T C snp 5543.77 1/1 99 196 0 196 1.0 intronic rs2015509 CLCNKA AO NM_004070 exon16 c.9090-56T>C 0.749201 0.9742 Uncertain 1_16358685_C->G 1 16358685 16358685 C G snp 3842.77 1/1 99 147 0 147 1.0 intronic rs6669935 CLCNKA AO NM_004070 exon17 c.9583-12C>G 0.686701 0.9683 0.593091 0.6088 0.9682 Uncertain 1_16358932_T->C 1 16358932 16358932 T C snp 4314.77 1/1 99 156 0 156 1.0 splicing rs10803407 CLCNKA AO NM_004070 exon18 c.9823-5T>C 0.749002 0.9742 0.695218 0.6882 0.9709 Pathogenic 1_16359052_A->G 1 16359052 16359052 A G snp 4573.77 1/1 99 175 0 175 1.0 intronic rs10927893 CLCNKA AO NM_004070 exon18 c.9907+31A>G 0.763978 0.7609 0.854836 0.9230 0.9998 Uncertain 1_16359123_A->G 1 16359123 16359123 A G snp 1586.77 1/1 99 42 0 42 1.0 intronic rs9442217 CLCNKA AO NM_004070 exon18 c.9907+102A>G 0.749002 0.9742 Uncertain 1_16359920_C->A 1 16359920 16359920 C A snp 215.77 0/1 99 12 5 7 0.58 intronic CLCNKA AO NM_004070 exon19 c.10637+169C>A Uncertain 1_16361737_A->G 1 16361737 16361737 A G snp 45.74 1/1 6 2 0 2 1.0 intergenic rs2863413 CLCNKA AO 0.606629 0.9643 Uncertain 1_16361875_A->G 1 16361875 16361875 A G snp 301.78 1/1 24 11 0 11 1.0 intergenic rs11807054 CLCNKA AO 0.9375 0.999 Uncertain 1_16361916_G->A 1 16361916 16361916 G A snp 439.89 0/1 2 21 1 20 0.95 intergenic rs11811753 CLCNKA AO Uncertain 1_16363132_C->T 1 16363132 16363132 C T snp 667.77 1/1 51 25 0 25 1.0 intergenic rs1889787 CLCNKA AO 0.163139 0.2183 Uncertain 1_16363149_G->- 1 16363149 16363149 G - indel 1217.73 0/1 99 35 5 30 0.86 intergenic rs150833594 CLCNKA AO 0.0866613 0.2063 Uncertain 1_16363158_G->A 1 16363158 16363158 G A snp 85.77 0/1 99 39 31 8 0.21 intergenic rs74057560 CLCNKA AO Uncertain 1_16363237_C->T 1 16363237 16363237 C T snp 211.77 0/1 99 47 28 19 0.4 intergenic rs143626665 CLCNKA AO Uncertain 1_16363243_A->G 1 16363243 16363243 A G snp 530.77 0/1 99 44 20 24 0.55 intergenic rs35030434 CLCNKA AO Uncertain 1_16370846_T->A 1 16370846 16370846 T A snp 80.28 1/1 9 3 0 3 1.0 intronic CLCNKB AR,AO Uncertain 1_16370851_T->C 1 16370851 16370851 T C snp 96.28 1/1 9 3 0 3 1.0 intronic rs75954594 CLCNKB AR,AO Uncertain 1_16370873_C->T 1 16370873 16370873 C T snp 258.8 1/1 21 7 0 7 1.0 intronic rs10803411 CLCNKB AR,AO Uncertain 1_16370899_G->A 1 16370899 16370899 G A snp 468.77 1/1 36 14 0 14 1.0 intronic rs945394 CLCNKB AR,AO 0.542931 0.6935 Uncertain 1_16371067_G->T 1 16371067 16371067 G T snp 3434.77 1/1 99 123 0 123 1.0 exonic rs2015352 CLCNKB AR,AO nonsynonymous SNV NM_000085 exon2 c.G80T p.R27L 0.555511 0.6498 0.526296 0.6413 0.6597 0.22 T 1.000 P -0.903 T 0.468 P 0.162 P Pathogenic 1_16371872_C->G 1 16371872 16371872 C G snp 54.74 1/1 6 3 0 3 1.0 intronic rs6604908 CLCNKB AR,AO NM_000085 exon3 c.1065-180C>G 0.566494 0.7004 Uncertain 1_16371932_A->C 1 16371932 16371932 A C snp 778.77 1/1 57 24 0 24 1.0 intronic rs6604909 CLCNKB AR,AO NM_000085 exon3 c.1065-120A>C 0.819888 0.999 Uncertain 1_16372003_G->C 1 16372003 16372003 G C snp 1658.77 1/1 99 60 0 60 1.0 intronic rs6604910 CLCNKB AR,AO NM_000085 exon3 c.1065-49G>C 0.566494 0.7004 0.521144 0.6260 0.6876 Uncertain 1_16372274_-->G 1 16372274 16372274 - G indel 356.73 1/1 42 30 1 29 0.97 intronic rs397962925 CLCNKB AR,AO NM_000085 exon3 c.1194+93insG 0.0185703 0.0258 Uncertain 1_16372283_T->G 1 16372283 16372283 T G snp 632.77 1/1 48 20 0 20 1.0 intronic rs6604911 CLCNKB AR,AO NM_000085 exon3 c.1194+102T>G 0.458466 0.5645 Uncertain 1_16372971_G->A 1 16372971 16372971 G A snp 48.74 1/1 6 2 0 2 1.0 intronic rs2014841 CLCNKB AR,AO NM_000085 exon4 c.2042-58G>A 0.740415 0.9881 Uncertain 1_16373124_A->G 1 16373124 16373124 A G snp 3774.77 1/1 99 137 0 137 1.0 exonic rs5257 CLCNKB AR,AO synonymous SNV NM_000085 exon4 c.A324G p.S108S 0.740415 0.9881 0.672151 0.8022 0.9898 Uncertain 1_16373200_CTT->- 1 16373200 16373202 CTT - indel 8412.73 1/1 99 152 0 152 1.0 intronic rs35820664 CLCNKB AR,AO NM_000085 exon4 c.2171+42_2171+44delCTT 0.723442 0.9861 0.642252 0.7753 0.9888 Uncertain 1_16373282_A->G 1 16373282 16373282 A G snp 1500.77 1/1 74 57 2 55 0.96 intronic rs2095540 CLCNKB AR,AO NM_000085 exon4 c.2171+124A>G 0.740016 0.9881 Uncertain 1_16374533_G->C 1 16374533 16374533 G C snp 1541.77 1/1 99 60 0 60 1.0 exonic rs2014562 CLCNKB AR,AO synonymous SNV NM_000085 exon5 c.G492C p.G164G 0.89397 0.999 0.878441 0.9298 0.9997 Uncertain 1_16374622_C->G 1 16374622 16374622 C G snp 1458.77 1/1 99 52 0 52 1.0 intronic rs2863440 CLCNKB AR,AO NM_000085 exon5 c.3552+83C>G 0.740615 0.9881 Uncertain 1_16374656_A->G 1 16374656 16374656 A G snp 1522.77 1/1 99 50 0 50 1.0 intronic rs2902490 CLCNKB AR,AO NM_000085 exon5 c.3552+117A>G 0.740216 0.9881 Uncertain 1_16374994_C->T 1 16374994 16374994 C T snp 1015.77 1/1 75 50 4 46 0.92 splicing rs1889788 CLCNKB AR,AO NM_000085 exon7 c.4011-4C>T 0.738618 0.9881 0.8008 0.9897 Pathogenic 1_16375063_C->G 1 16375063 16375063 C G snp 1100.77 1/1 78 45 3 42 0.93 exonic rs1889789 CLCNKB AR,AO nonsynonymous SNV NM_000085 exon7 c.C641G p.A214G 0.827276 0.998 0.9006 0.9993 0.54 T 0.971 P -0.924 T 0.0 T 0.0 T Pathogenic 1_16375064_A->C 1 16375064 16375064 A C snp 1124.77 1/1 81 46 3 43 0.93 exonic rs1889790 CLCNKB AR,AO synonymous SNV NM_000085 exon7 c.A642C p.A214A 0.827276 0.998 0.9006 0.9993 Uncertain 1_16375210_G->A 1 16375210 16375210 G A snp 142.03 1/1 12 7 0 7 1.0 intronic rs9633514 CLCNKB AR,AO NM_000085 exon7 c.4090+133G>A 0.357029 0.6915 Uncertain 1_16376191_C->T 1 16376191 16376191 C T snp 2258.77 1/1 99 78 5 73 0.94 exonic rs7367494 CLCNKB AR,AO nonsynonymous SNV NM_000085 exon9 c.C860T p.A287V 0.829872 0.998 0.9096 0.9986 0.52 T 0.0 P -0.972 T 0.003 T 0.006 T Pathogenic 1_16376230_-->T 1 16376230 16376230 - T indel 4848.73 1/1 99 117 0 117 1.0 intronic rs59006537 CLCNKB AR,AO NM_001165945 exon2 c.731+33insT 0.8869 0.9895 Uncertain 1_16376232_A->T 1 16376232 16376232 A T snp 3514.77 1/1 99 124 4 120 0.97 intronic rs59924562 CLCNKB AR,AO NM_001165945 exon2 c.731+35A>T 0.754193 0.8224 0.8911 0.9897 Uncertain 1_16376239_C->- 1 16376239 16376239 C - indel 4438.73 1/1 99 123 0 123 1.0 intronic rs34589727 CLCNKB AR,AO NM_001165945 exon2 c.731+42delC 0.830072 0.999 0.9050 0.9995 Uncertain 1_16376278_G->A 1 16376278 16376278 G A snp 5518.77 1/1 99 213 0 213 1.0 intronic rs7365182 CLCNKB AR,AO NM_001165945 exon3 c.843-31G>A 0.827875 0.999 0.812625 0.9106 0.9998 Uncertain 1_16376319_T->C 1 16376319 16376319 T C snp 6116.77 1/1 99 233 0 233 1.0 exonic rs7368151 CLCNKB AR,AO synonymous SNV NM_000085 exon10 c.T876C p.C292C 0.830072 0.999 0.815085 0.9114 0.9998 Uncertain 1_16376458_T->C 1 16376458 16376458 T C snp 2105.77 1/1 99 67 0 67 1.0 intronic rs7368166 CLCNKB AR,AO NM_001165945 exon3 c.945+47T>C 0.830072 0.998 0.802522 0.9088 0.9983 Uncertain 1_16379008_C->T 1 16379008 16379008 C T snp 1206.77 1/1 90 35 0 35 1.0 intronic rs2050522 CLCNKB AR,AO NM_001165945 exon8 c.3440+102C>T 0.749201 0.9891 Uncertain 1_16380196_T->C 1 16380196 16380196 T C snp 6392.77 1/1 99 230 1 229 1.0 exonic rs5253 CLCNKB AR,AO nonsynonymous SNV NM_000085 exon16 c.T1685C p.M562T 0.838259 0.8353 0.888248 0.9310 0.8081 0.44 T 0.0 P -0.983 T 0.0 T 0.003 T Pathogenic 1_16380243_A->G 1 16380243 16380243 A G snp 3728.77 1/1 99 122 0 122 1.0 exonic rs2275166 CLCNKB AR,AO nonsynonymous SNV NM_000085 exon16 c.A1732G p.K578E 0.701677 0.8056 0.700830 0.6586 0.7950 0.46 T 0.0 P -0.936 T 0.0 T 0.001 T Pathogenic 1_16380252_C->T 1 16380252 16380252 C T snp 3386.77 1/1 99 104 0 104 1.0 exonic rs2275167 CLCNKB AR,AO synonymous SNV NM_000085 exon16 c.C1741T p.L581L 0.613618 0.8016 0.611333 0.6210 0.7899 Uncertain 1_16381718_T->C 1 16381718 16381718 T C snp 511.77 1/1 39 13 0 13 1.0 intronic rs1414498 CLCNKB AR,AO NM_001165945 exon10 c.6463-211T>C 0.721246 0.8234 Uncertain 1_16381722_C->T 1 16381722 16381722 C T snp 438.77 1/1 33 14 0 14 1.0 intronic rs12691552 CLCNKB AR,AO NM_001165945 exon10 c.6463-207C>T 0.439297 0.8016 Uncertain 1_16381792_T->A 1 16381792 16381792 T A snp 1892.77 1/1 99 66 0 66 1.0 intronic rs12047858 CLCNKB AR,AO NM_001165945 exon10 c.6463-137T>A 0.457867 0.8026 Uncertain 1_16381816_C->T 1 16381816 16381816 C T snp 2110.77 1/1 99 81 0 81 1.0 intronic rs12029508 CLCNKB AR,AO NM_001165945 exon10 c.6463-113C>T 0.457867 0.8026 Uncertain 1_16382086_C->T 1 16382086 16382086 C T snp 2499.77 1/1 99 85 0 85 1.0 intronic rs2297727 CLCNKB AR,AO NM_001165945 exon10 c.6552+68C>T 0.458666 0.8046 Uncertain 1_16382718_T->C 1 16382718 16382718 T C snp 763.77 1/1 60 20 0 20 1.0 intronic rs12048851 CLCNKB AR,AO NM_001165945 exon12 c.7450-198T>C 0.472644 0.8026 Uncertain 1_16382730_C->T 1 16382730 16382730 C T snp 1442.77 1/1 99 36 0 36 1.0 intronic rs12030469 CLCNKB AR,AO NM_001165945 exon12 c.7450-186C>T 0.45647 0.8026 Uncertain 1_16382791_G->C 1 16382791 16382791 G C snp 5542.77 1/1 99 179 0 179 1.0 intronic rs12023153 CLCNKB AR,AO NM_001165945 exon12 c.7450-125G>C 0.457668 0.8026 Uncertain 1_16382828_TCT->- 1 16382828 16382830 TCT - indel 14703.7 1/1 99 250 0 250 1.0 intronic rs77508204 CLCNKB AR,AO NM_001165945 exon12 c.7450-88_7450-86delTCT 0.402556 0.8026 Uncertain 1_16382831_T->A 1 16382831 16382831 T A snp 6634.77 1/1 99 242 0 242 1.0 intronic rs61769890 CLCNKB AR,AO NM_001165945 exon12 c.7450-85T>A 0.402556 0.8026 Uncertain 1_16382834_T->A 1 16382834 16382834 T A snp 6815.77 1/1 99 249 0 249 1.0 intronic rs61769891 CLCNKB AR,AO NM_001165945 exon12 c.7450-82T>A 0.402756 0.8026 Uncertain 1_16382877_A->G 1 16382877 16382877 A G snp 7537.77 1/1 99 250 0 250 1.0 intronic rs7517792 CLCNKB AR,AO NM_001165945 exon12 c.7450-39A>G 0.784145 0.8234 0.761956 0.7931 0.8073 Uncertain 1_16383329_-->C 1 16383329 16383329 - C indel 640.73 1/1 74 35 0 35 1.0 intronic rs138507185 CLCNKB AR,AO NM_001165945 exon13 c.7897-34insC 0.632788 0.7609 0.5002 0.4674 Uncertain 1_16383336_G->C 1 16383336 16383336 G C snp 940.77 1/1 75 35 0 35 1.0 intronic rs12746138 CLCNKB AR,AO NM_001165945 exon13 c.7897-27G>C 0.714657 0.8214 0.6138 0.6094 Uncertain 1_16383448_A->C 1 16383448 16383448 A C snp 1870.77 1/1 99 82 0 82 1.0 UTR3 rs10803415 CLCNKB AR,AO 0.900958 0.8244 0.9401 0.7985 Uncertain 1_16383581_G->T 1 16383581 16383581 G T snp 685.77 1/1 57 19 0 19 1.0 UTR3 rs1057844 CLCNKB AR,AO Uncertain 1_16383605_A->G 1 16383605 16383605 A G snp 1075.77 1/1 81 33 0 33 1.0 UTR3 rs1057845 CLCNKB AR,AO Uncertain 1_16383668_T->G 1 16383668 16383668 T G snp 1976.77 1/1 99 77 0 77 1.0 UTR3 rs6660218 CLCNKB AR,AO 1 1 0.9999 1 Uncertain 1_16383742_C->G 1 16383742 16383742 C G snp 2482.77 1/1 99 92 1 91 0.99 UTR3 rs1057857 CLCNKB AR,AO 0.6207 0.4944 0.18 T 0.000 P -0.681 T Uncertain 1_16383890_G->A 1 16383890 16383890 G A snp 37.77 0/1 66 6 4 2 0.33 downstream rs77463117 CLCNKB AR,AO Uncertain 1_16383914_C->T 1 16383914 16383914 C T snp 44.74 1/1 6 2 0 2 1.0 downstream rs10927896 CLCNKB AR,AO 0.313898 0.494 Uncertain 1_16385178_G->A 1 16385178 16385178 G A snp 686.77 0/1 29 35 4 31 0.89 exonic rs80297394 FAM131C AU synonymous SNV NM_182623 exon7 c.C597T p.P199P 0.1044 0.2079 Uncertain 1_16385323_A->G 1 16385323 16385323 A G snp 207.84 1/1 18 8 0 8 1.0 intronic rs77017249 FAM131C AU NM_182623 exon1 c.281+111A>G Uncertain 1_16385330_G->T 1 16385330 16385330 G T snp 125.03 1/1 12 5 0 5 1.0 intronic rs3978476 FAM131C AU NM_182623 exon1 c.281+118G>T Uncertain 1_16385739_C->- 1 16385739 16385739 C - indel 324.74 1/1 27 9 0 9 1.0 intronic rs33918184 FAM131C AU NM_182623 exon2 c.1057-249delC Uncertain 1_16385797_C->G 1 16385797 16385797 C G snp 1245.77 0/1 99 101 53 48 0.48 intronic rs3978478 FAM131C AU NM_182623 exon2 c.1057-191C>G Uncertain 1_16385874_T->C 1 16385874 16385874 T C snp 3772.77 0/1 99 250 117 133 0.53 intronic rs3978464 FAM131C AU NM_182623 exon2 c.1057-114T>C Uncertain 1_16385980_G->A 1 16385980 16385980 G A snp 6372.77 1/1 99 236 2 234 0.99 intronic rs3884058 FAM131C AU NM_182623 exon2 c.1057-8G>A 0.715056 0.8333 0.677070 0.7421 0.8065 Uncertain 1_16386008_T->C 1 16386008 16386008 T C snp 6334.77 1/1 99 218 0 218 1.0 exonic rs2863452 FAM131C AU synonymous SNV NM_182623 exon6 c.A543G p.Q181Q 0.721645 0.8343 0.7498 0.8142 Uncertain 1_16386065_T->A 1 16386065 16386065 T A snp 1151.77 0/1 99 66 28 38 0.58 exonic rs61769893 FAM131C AU synonymous SNV NM_182623 exon6 c.A486T p.T162T 0.1034 0.2149 Uncertain 1_16386247_T->C 1 16386247 16386247 T C snp 55.74 1/1 6 2 0 2 1.0 intronic rs2095543 FAM131C AU NM_182623 exon3 c.1432-116T>C 0.916733 0.8234 Uncertain 1_16386305_-->C 1 16386305 16386305 - C indel 353.73 1/1 33 11 0 11 1.0 intronic rs372070031 FAM131C AU NM_182623 exon3 c.1432-58insC 0.367812 0.3581 Uncertain 1_16386416_G->A 1 16386416 16386416 G A snp 821.77 1/1 60 33 0 33 1.0 exonic rs9442230 FAM131C AU synonymous SNV NM_182623 exon5 c.C399T p.D133D 0.710463 0.8155 0.685214 0.7488 0.8056 Uncertain 1_16386447_G->C 1 16386447 16386447 G C snp 777.77 1/1 57 28 0 28 1.0 exonic rs11576236 FAM131C AU nonsynonymous SNV NM_182623 exon5 c.C368G p.P123R 0.915935 0.8185 0.9500 0.7949 0.74 T 0.0 P -1.023 T 0.0 T 0.0 T Pathogenic 1_16386495_C->T 1 16386495 16386495 C T snp 655.77 1/1 48 25 0 25 1.0 exonic rs71510977 FAM131C AU nonsynonymous SNV NM_182623 exon5 c.G320A p.R107Q 0.396965 0.7966 0.4590 0.7428 1 T 0.940 P -1.119 T 1.0 D 0.997 D Pathogenic 1_16388556_C->T 1 16388556 16388556 C T snp 261.8 1/1 21 9 0 9 1.0 intronic rs2863455 FAM131C AU NM_182623 exon4 c.3662-37C>T 0.640176 0.7976 0.544058 0.6817 0.7862 Uncertain 1_16388565_C->G 1 16388565 16388565 C G snp 344.78 1/1 27 13 0 13 1.0 intronic rs7524413 FAM131C AU NM_182623 exon4 c.3662-28C>G 0.394369 0.7788 0.313534 0.4418 0.7769 Uncertain 1_16388646_T->C 1 16388646 16388646 T C snp 786.84 1/1 18 35 2 33 0.94 exonic rs2863456 FAM131C AU synonymous SNV NM_182623 exon4 c.A216G p.R72R 0.816693 0.8304 0.821773 0.8516 0.8321 Uncertain 1_16388709_G->T 1 16388709 16388709 G T snp 708.03 1/1 12 35 2 33 0.94 intronic rs28570004 FAM131C AU NM_182623 exon4 c.3756+22G>T 0.465655 0.5575 0.548379 0.5091 0.5843 Uncertain 1_16388766_C->T 1 16388766 16388766 C T snp 610.77 1/1 45 20 1 19 0.95 intronic rs3978469 FAM131C AU NM_182623 exon4 c.3756+79C>T 0.750799 0.753 Uncertain 1_16451767_G->A 1 16451767 16451767 G A snp 1342.77 0/1 99 125 62 63 0.5 exonic rs3754334 EPHA2 AD synonymous SNV NM_004431 exon17 c.C2874T p.I958I 0.236621 0.1548 0.227895 0.2751 0.1479 Uncertain 1_16456176_G->A 1 16456176 16456176 G A snp 403.77 0/1 99 25 11 14 0.56 intronic rs3768294 EPHA2 AD NM_004431 exon2 c.4375+92G>A 0.186102 0.126 Uncertain 1_16458814_C->T 1 16458814 16458814 C T snp 1505.77 0/1 99 119 58 61 0.51 intronic rs2291805 EPHA2 AD NM_004431 exon5 c.7059+46C>T 0.127396 0.1131 0.094432 0.0799 0.1235 Uncertain 1_16459745_G->A 1 16459745 16459745 G A snp 3183.76 0/1 99 250 127 123 0.49 exonic rs10907223 EPHA2 AD synonymous SNV NM_004431 exon11 c.C1983T p.L661L 0.192692 0.1071 0.161310 0.0918 0.1165 Uncertain 1_16460339_G->A 1 16460339 16460339 G A snp 806.77 0/1 99 74 39 35 0.47 intronic rs6669624 EPHA2 AD NM_004431 exon9 c.8645-15G>A 0.230431 0.1151 0.185208 0.1721 0.1179 Uncertain 1_16460541_T->C 1 16460541 16460541 T C snp 750.77 0/1 99 60 28 32 0.53 intronic rs6603855 EPHA2 AD NM_004431 exon9 c.8701+131T>C 0.289736 0.1151 Uncertain 1_16460840_G->A 1 16460840 16460840 G A snp 832.77 0/1 99 61 31 30 0.49 intronic rs6603856 EPHA2 AD NM_004431 exon10 c.9253-122G>A 0.225839 0.1141 Uncertain 1_16464260_T->C 1 16464260 16464260 T C snp 362.77 0/1 99 34 22 12 0.35 intronic rs11260742 EPHA2 AD NM_004431 exon13 c.12638-87T>C 0.158746 0.121 Uncertain 1_16528218_G->T 1 16528218 16528218 G T snp 1706.77 1/1 99 54 0 54 1.0 intronic rs6676143 ARHGEF19 AU NM_153213 exon3 c.3195-58G>T 0.472244 0.7123 0.471091 Uncertain 1_16528470_CCTACCCTAGGGAC->- 1 16528470 16528483 CCTACCCTAGGGAC - indel 6135.73 1/1 99 65 0 65 1.0 intronic rs151266607 ARHGEF19 AU NM_153213 exon3 c.3275+114_3275+127delCCTACCCTAGGGAC 0.333267 0.3829 Uncertain 1_16528484_C->T 1 16528484 16528484 C T snp 1252.77 1/1 90 38 0 38 1.0 intronic rs200992860 ARHGEF19 AU NM_153213 exon3 c.3275+128C>T Uncertain 1_16528843_A->G 1 16528843 16528843 A G snp 584.77 1/1 45 20 0 20 1.0 intronic rs1693540 ARHGEF19 AU NM_153213 exon4 c.3829-67A>G 0.813898 0.8661 Uncertain 1_16533022_C->T 1 16533022 16533022 C T snp 2934.77 1/1 99 104 0 104 1.0 intronic rs221052 ARHGEF19 AU NM_153213 exon10 c.7754+187C>T 0.773163 0.8601 0.7665 0.8214 0.000 P -1.015 T Uncertain 1_16543175_A->C 1 16543175 16543175 A C snp 1916.77 1/1 99 70 0 70 1.0 intergenic rs221024 ARHGEF19 AU 0.992612 1 Uncertain 1_16558838_C->A 1 16558838 16558838 C A snp 1603.77 1/1 99 59 1 58 0.98 intronic rs6700888 RSG1 AU NM_030907 exon1 c.250+46C>A 0.361022 0.6736 0.304013 0.4502 0.7044 Uncertain 1_16562968_C->A 1 16562968 16562968 C A snp 718.77 1/1 54 22 0 22 1.0 intronic rs6603850 RSG1 AU NM_030907 exon5 c.4583-157C>A 0.660343 0.8472 Uncertain 1_16621183_C->T 1 16621183 16621183 C T snp 2073.77 1/1 99 74 0 74 1.0 intronic rs1007150 FBXO42 AU NM_018994 exon7 c.44113-94C>T 0.629193 0.8522 Uncertain 1_16641899_C->T 1 16641899 16641899 C T snp 3237.77 1/1 99 116 1 115 0.99 exonic rs2273311 FBXO42 AU synonymous SNV NM_018994 exon2 c.G15A p.S5S 0.357428 0.6786 0.303398 0.3970 0.6819 Uncertain 1_16730582_C->G 1 16730582 16730582 C G snp 1076.77 1/1 78 33 0 33 1.0 intronic rs17419150 SPATA21 AU NM_198546 exon5 c.5275+48C>G 0.370008 0.6806 0.288844 0.3732 0.6928 Uncertain 1_16731646_T->C 1 16731646 16731646 T C snp 909.77 1/1 66 30 0 30 1.0 intronic rs3106498 SPATA21 AU NM_198546 exon6 c.6340+47T>C 0.961062 1 0.960627 0.9895 0.9999 Uncertain 1_16731647_G->C 1 16731647 16731647 G C snp 940.77 1/1 69 30 0 30 1.0 intronic rs526481 SPATA21 AU NM_198546 exon6 c.6340+48G>C 0.462859 0.6796 0.272573 0.4980 0.6760 Uncertain 1_16731653_C->T 1 16731653 16731653 C T snp 939.77 1/1 69 30 0 30 1.0 intronic rs526489 SPATA21 AU NM_198546 exon6 c.6340+54C>T 0.367212 0.6786 Uncertain 1_16731661_T->C 1 16731661 16731661 T C snp 825.77 1/1 60 27 0 27 1.0 intronic rs526513 SPATA21 AU NM_198546 exon6 c.6340+62T>C 0.463059 0.6806 Uncertain 1_16736546_C->T 1 16736546 16736546 C T snp 2111.77 1/1 99 68 0 68 1.0 intronic rs10907226 SPATA21 AU NM_198546 exon8 c.11279+8C>T 0.620607 0.9097 0.647012 0.6409 0.9242 Uncertain 1_16767506_T->C 1 16767506 16767506 T C snp 224.84 1/1 18 6 0 6 1.0 intronic rs2783371 NECAP2 AU NM_001145277 exon1 c.92+158T>C 0.997604 1 Uncertain 1_16774625_G->A 1 16774625 16774625 G A snp 714.77 0/1 99 60 31 29 0.48 exonic rs553360398 NECAP2 AU synonymous SNV NM_001145277 exon4 c.G369A p.Q123Q 0.000199681 0.001 2.471e-05 0.0003 Uncertain 1_16862282_G->A 1 16862282 16862282 G A snp 1287.77 0/1 99 101 57 44 0.44 intergenic rs11260784 CROCCP3 AU 0.2582 0.4565 0 D -0.629 T Uncertain 1_16862454_T->G 1 16862454 16862454 T G snp 2942.77 0/1 99 250 153 97 0.39 intergenic rs915324 CROCCP3 AU 0.5002 0.5 1 T -0.967 T Uncertain 1_16862461_T->A 1 16862461 16862461 T A snp 2932.77 0/1 99 250 153 97 0.39 intergenic rs1759228 CROCCP3 AU 0.5007 0.5 0.07 T -1.038 T Uncertain 1_16862502_A->G 1 16862502 16862502 A G snp 3056.77 0/1 99 250 148 102 0.41 intergenic rs915326 CROCCP3 AU 0.234026 0.1379 0.5026 0.5 1 T -0.960 T Uncertain 1_16862633_C->T 1 16862633 16862633 C T snp 193.77 0/1 99 234 189 45 0.19 intergenic rs3863772 CROCCP3 AU Uncertain 1_16862708_T->G 1 16862708 16862708 T G snp 1082.77 0/1 99 89 37 52 0.58 intergenic rs1762987 CROCCP3 AU Uncertain 1_16862712_G->T 1 16862712 16862712 G T snp 949.77 0/1 99 80 31 49 0.61 intergenic rs61769538 CROCCP3 AU Uncertain 1_16862714_T->G 1 16862714 16862714 T G snp 959.77 0/1 99 77 29 48 0.62 intergenic rs1762986 CROCCP3 AU Uncertain 1_16862732_A->G 1 16862732 16862732 A G snp 464.77 0/1 99 49 26 23 0.47 intergenic CROCCP3 AU Uncertain 1_16863259_T->G 1 16863259 16863259 T G snp 105.77 0/1 99 191 148 43 0.23 intergenic rs114741004 CROCCP3 AU 0.1975 0.0930 Uncertain 1_16863304_T->C 1 16863304 16863304 T C snp 1099.77 0/1 99 250 192 58 0.23 intergenic rs61769542 CROCCP3 AU 0.2726 0.18 0.24 T -1.027 T Uncertain 1_16863308_G->T 1 16863308 16863308 G T snp 1163.77 0/1 99 250 187 63 0.25 intergenic rs112689425 CROCCP3 AU 0.2682 0.18 0.78 T -1.006 T Uncertain 1_16863314_A->G 1 16863314 16863314 A G snp 1434.77 0/1 99 250 175 75 0.3 intergenic rs74927161 CROCCP3 AU 0.2718 0.1814 Uncertain 1_16863328_T->G 1 16863328 16863328 T G snp 1859.77 0/1 99 250 154 96 0.38 intergenic rs61769543 CROCCP3 AU 0.2766 0.2059 0.54 T -1.004 T Uncertain 1_16863352_C->T 1 16863352 16863352 C T snp 1973.77 0/1 99 249 142 107 0.43 intergenic rs61769544 CROCCP3 AU 0.3097 0.2452 Uncertain 1_16863382_A->T 1 16863382 16863382 A T snp 2227.77 0/1 99 239 112 127 0.53 intergenic rs1759237 CROCCP3 AU 0.0403355 0.0464 0.1845 Uncertain 1_16863398_A->C 1 16863398 16863398 A C snp 2315.77 0/1 99 236 112 124 0.53 intergenic rs61769545 CROCCP3 AU 0.00239617 0.4007 0.3738 Uncertain 1_16863514_C->T 1 16863514 16863514 C T snp 428.77 0/1 99 25 11 14 0.56 intergenic rs79847558 CROCCP3 AU Uncertain 1_16946407_T->G 1 16946407 16946407 T G snp 84.77 0/1 99 39 31 8 0.21 ncRNA_exonic rs10796418 CROCCP2 AU Uncertain 1_16946434_C->T 1 16946434 16946434 C T snp 211.77 0/1 99 37 26 11 0.3 ncRNA_exonic rs367060 CROCCP2 AU 0.0505192 0.0119 Uncertain 1_16946437_C->T 1 16946437 16946437 C T snp 115.77 0/1 99 36 28 8 0.22 ncRNA_exonic rs2262202 CROCCP2 AU 0.159744 0.2659 Uncertain 1_16946438_G->A 1 16946438 16946438 G A snp 387.77 0/1 99 37 19 18 0.49 ncRNA_exonic rs28392876 CROCCP2 AU Uncertain 1_16946535_T->C 1 16946535 16946535 T C snp 313.78 1/1 24 12 0 12 1.0 ncRNA_splicing rs437905 CROCCP2 AU Uncertain 1_16948473_C->T 1 16948473 16948473 C T snp 235.77 0/1 99 63 50 13 0.21 ncRNA_intronic rs446948 CROCCP2 AU 0.383187 0.3938 Uncertain 1_16948474_C->G 1 16948474 16948474 C G snp 1706.77 1/1 99 64 0 64 1.0 ncRNA_intronic rs2781579 CROCCP2 AU 0.746206 0.7827 Uncertain 1_16950470_C->T 1 16950470 16950470 C T snp 37.77 0/1 66 13 10 3 0.23 ncRNA_intronic rs12144467 CROCCP2 AU Uncertain 1_16969246_G->A 1 16969246 16969246 G A snp 1276.77 0/1 99 157 105 52 0.33 intergenic rs11260857 CROCCP2 AU Uncertain 1_16969381_C->T 1 16969381 16969381 C T snp 5681.77 1/1 99 222 0 222 1.0 intergenic rs9727604 CROCCP2 AU Uncertain 1_16971948_C->G 1 16971948 16971948 C G snp 113.77 0/1 99 12 6 6 0.5 upstream rs2209174 MST1P2 AU 0.477636 0.4901 Uncertain 1_16972067_C->T 1 16972067 16972067 C T snp 721.77 0/1 99 63 32 31 0.49 upstream rs1360574 MST1P2 AU 0.281949 0.4226 Uncertain 1_16972068_A->G 1 16972068 16972068 A G snp 1137.77 0/1 99 63 18 45 0.71 upstream rs1360575 MST1P2 AU 0.453275 0.5823 Uncertain 1_16972134_C->T 1 16972134 16972134 C T snp 135.77 0/1 99 95 78 17 0.18 ncRNA_exonic rs4661404 MST1P2 AU Uncertain 1_16972189_C->A 1 16972189 16972189 C A snp 608.77 0/1 99 72 44 28 0.39 ncRNA_intronic rs9728527 MST1P2 AU Uncertain 1_16972940_G->A 1 16972940 16972940 G A snp 1471.77 1/1 99 42 0 42 1.0 ncRNA_exonic rs1970921 MST1P2 AU Uncertain 1_16973152_A->G 1 16973152 16973152 A G snp 4407.77 1/1 99 160 0 160 1.0 ncRNA_exonic rs1970920 MST1P2 AU Uncertain 1_16973184_G->A 1 16973184 16973184 G A snp 3472.77 0/1 99 182 37 145 0.8 ncRNA_exonic rs55828106 MST1P2 AU Uncertain 1_16973198_G->A 1 16973198 16973198 G A snp 294.77 0/1 99 177 137 40 0.23 ncRNA_exonic rs368927391 MST1P2 AU Uncertain 1_16973327_G->A 1 16973327 16973327 G A snp 95.77 0/1 99 250 173 77 0.31 ncRNA_intronic rs200697339 MST1P2 AU Uncertain 1_16973388_C->T 1 16973388 16973388 C T snp 1197.77 1/1 99 250 1 249 1.0 ncRNA_intronic rs2490833 MST1P2 AU Uncertain 1_16973400_G->A 1 16973400 16973400 G A snp 1313.77 1/1 99 250 0 250 1.0 ncRNA_intronic rs2761542 MST1P2 AU Uncertain 1_16973419_G->A 1 16973419 16973419 G A snp 361.77 0/1 99 250 169 81 0.32 ncRNA_intronic rs202199433 MST1P2 AU Uncertain 1_16973423_C->T 1 16973423 16973423 C T snp 1001.77 0/1 99 250 111 139 0.56 ncRNA_intronic rs61499416 MST1P2 AU Uncertain 1_16973606_G->T 1 16973606 16973606 G T snp 1340.77 0/1 99 247 188 59 0.24 ncRNA_exonic rs76859932 MST1P2 AU Uncertain 1_16973648_A->G 1 16973648 16973648 A G snp 52.77 0/1 81 237 198 39 0.16 ncRNA_intronic rs2261168 MST1P2 AU Uncertain 1_16973919_A->G 1 16973919 16973919 A G snp 1271.77 0/1 99 121 48 73 0.6 ncRNA_intronic rs141898836 MST1P2 AU Uncertain 1_16974021_G->A 1 16974021 16974021 G A snp 607.77 0/1 99 53 25 28 0.53 ncRNA_exonic rs142740321 MST1P2 AU Uncertain 1_16974054_A->G 1 16974054 16974054 A G snp 131.77 0/1 99 25 14 11 0.44 ncRNA_exonic rs1736754 MST1P2 AU Uncertain 1_16974224_C->G 1 16974224 16974224 C G snp 37.77 0/1 66 20 17 3 0.15 ncRNA_intronic rs368571421 MST1P2 AU Uncertain 1_16974243_G->C 1 16974243 16974243 G C snp 155.77 0/1 99 42 31 11 0.26 ncRNA_intronic rs372123873 MST1P2 AU Uncertain 1_16974256_G->C 1 16974256 16974256 G C snp 1870.77 1/1 99 64 0 64 1.0 ncRNA_intronic rs2743519 MST1P2 AU 0.540335 0.6736 Uncertain 1_16974277_A->C 1 16974277 16974277 A C snp 422.77 0/1 99 101 76 25 0.25 ncRNA_splicing rs201514041 MST1P2 AU Uncertain 1_16974511_G->A 1 16974511 16974511 G A snp 966.77 0/1 99 154 108 46 0.3 ncRNA_exonic rs58679574 MST1P2 AU Uncertain 1_16974549_C->G 1 16974549 16974549 C G snp 232.77 0/1 99 154 134 20 0.13 ncRNA_exonic MST1P2 AU Uncertain 1_16974637_T->C 1 16974637 16974637 T C snp 710.77 0/1 99 137 97 40 0.29 ncRNA_exonic rs16854791 MST1P2 AU Uncertain 1_16974662_C->A 1 16974662 16974662 C A snp 609.77 0/1 99 114 85 29 0.25 ncRNA_exonic rs28460410 MST1P2 AU Uncertain 1_16974666_C->T 1 16974666 16974666 C T snp 1693.77 0/1 99 114 35 79 0.69 ncRNA_exonic rs28503658 MST1P2 AU Uncertain 1_16974745_G->A 1 16974745 16974745 G A snp 82.77 0/1 99 43 36 7 0.16 ncRNA_exonic rs28526603 MST1P2 AU Uncertain 1_16974758_G->A 1 16974758 16974758 G A snp 905.77 1/1 72 28 0 28 1.0 ncRNA_exonic rs28484638 MST1P2 AU Uncertain 1_16974786_G->C 1 16974786 16974786 G C snp 347.96 1/1 5 16 3 13 0.81 ncRNA_exonic rs28622547 MST1P2 AU 0.211262 0.2897 Uncertain 1_16974868_G->T 1 16974868 16974868 G T snp 66.28 1/1 9 11 0 11 1.0 ncRNA_exonic rs28715800 MST1P2 AU Uncertain 1_16974901_A->G 1 16974901 16974901 A G snp 851.77 1/1 72 38 0 38 1.0 ncRNA_exonic rs28562993 MST1P2 AU Uncertain 1_16974915_C->T 1 16974915 16974915 C T snp 1115.77 1/1 90 49 3 46 0.94 ncRNA_exonic rs59636978 MST1P2 AU Uncertain 1_16974972_C->T 1 16974972 16974972 C T snp 3686.77 1/1 99 155 12 143 0.92 ncRNA_exonic rs58464479 MST1P2 AU Uncertain 1_16975002_C->T 1 16975002 16975002 C T snp 5462.77 1/1 99 224 0 224 1.0 ncRNA_exonic rs2093773 MST1P2 AU 0.509185 0.6647 Uncertain 1_16975045_G->A 1 16975045 16975045 G A snp 504.77 0/1 99 250 209 41 0.16 ncRNA_exonic rs55763726 MST1P2 AU Uncertain 1_16975084_G->A 1 16975084 16975084 G A snp 1674.77 0/1 99 250 180 70 0.28 ncRNA_exonic rs28506999 MST1P2 AU 0.103435 0.1786 Uncertain 1_16975087_G->T 1 16975087 16975087 G T snp 393.77 0/1 99 250 220 30 0.12 ncRNA_exonic MST1P2 AU Uncertain 1_16975202_T->C 1 16975202 16975202 T C snp 2028.77 0/1 99 250 160 90 0.36 ncRNA_intronic rs28602904 MST1P2 AU Uncertain 1_16975230_G->C 1 16975230 16975230 G C snp 8200.77 1/1 99 250 0 250 1.0 ncRNA_intronic rs2761535 MST1P2 AU Uncertain 1_16975289_T->A 1 16975289 16975289 T A snp 569.77 0/1 99 248 212 36 0.15 ncRNA_splicing rs200220176 MST1P2 AU Uncertain 1_16975429_T->C 1 16975429 16975429 T C snp 974.77 1/1 93 71 0 71 1.0 ncRNA_exonic rs60947741 MST1P2 AU Uncertain 1_16975626_G->C 1 16975626 16975626 G C snp 134.77 0/1 99 14 9 5 0.36 ncRNA_intronic rs12031642 MST1P2 AU Uncertain 1_16975725_C->- 1 16975725 16975725 C - indel 4583.73 0/1 99 168 41 127 0.76 ncRNA_exonic rs149232270 MST1P2 AU 0.245807 0.4385 Uncertain 1_16975831_C->T 1 16975831 16975831 C T snp 560.77 0/1 99 250 180 70 0.28 ncRNA_intronic rs28504091 MST1P2 AU Uncertain 1_16975868_T->A 1 16975868 16975868 T A snp 3405.77 0/1 99 234 80 154 0.66 ncRNA_splicing rs200822664 MST1P2 AU Uncertain 1_16975913_CCTGTT->- 1 16975913 16975918 CCTGTT - indel 3450.73 0/1 99 93 38 55 0.59 ncRNA_exonic rs148656339 MST1P2 AU Uncertain 1_16975947_C->T 1 16975947 16975947 C T snp 332.77 0/1 99 98 71 27 0.28 ncRNA_exonic rs201766038 MST1P2 AU Uncertain 1_16975994_T->C 1 16975994 16975994 T C snp 1342.77 1/1 61 69 2 67 0.97 ncRNA_exonic rs2261801 MST1P2 AU Uncertain 1_16976193_C->T 1 16976193 16976193 C T snp 1652.77 1/1 99 73 0 73 1.0 ncRNA_exonic rs61772256 MST1P2 AU Uncertain 1_16976345_T->C 1 16976345 16976345 T C snp 35.74 1/1 6 6 0 6 1.0 ncRNA_exonic rs1064317 MST1P2 AU 0.329673 0.5784 Uncertain 1_16976451_G->A 1 16976451 16976451 G A snp 97.03 1/1 12 14 2 12 0.86 ncRNA_intronic rs201492135 MST1P2 AU Uncertain 1_16976539_A->G 1 16976539 16976539 A G snp 1748.77 0/1 99 112 16 96 0.86 ncRNA_intronic rs199931165 MST1P2 AU Uncertain 1_16976569_G->A 1 16976569 16976569 G A snp 1546.77 0/1 99 188 101 87 0.46 ncRNA_exonic rs78288272 MST1P2 AU Uncertain 1_16976585_C->T 1 16976585 16976585 C T snp 1253.77 0/1 99 234 167 67 0.29 ncRNA_exonic rs1135350 MST1P2 AU Uncertain 1_16976641_C->T 1 16976641 16976641 C T snp 519.77 0/1 99 250 206 44 0.18 ncRNA_exonic rs1057417 MST1P2 AU Uncertain 1_16976649_C->T 1 16976649 16976649 C T snp 591.77 0/1 99 250 204 46 0.18 ncRNA_exonic rs1057333 MST1P2 AU Uncertain 1_16976681_G->T 1 16976681 16976681 G T snp 37.77 0/1 66 245 222 23 0.09 ncRNA_exonic rs3175284 MST1P2 AU Uncertain 1_16976772_G->T 1 16976772 16976772 G T snp 695.77 0/1 99 102 66 36 0.35 ncRNA_exonic rs79425189 MST1P2 AU Uncertain 1_16976786_G->C 1 16976786 16976786 G C snp 221.77 0/1 99 70 50 20 0.29 ncRNA_exonic rs201445230 MST1P2 AU Uncertain 1_17017675_C->A 1 17017675 17017675 C A snp 4195.77 0/1 99 250 93 157 0.63 downstream rs2743471 ESPNP AU 0.5308 0.4968 Uncertain 1_17017717_C->T 1 17017717 17017717 C T snp 1734.77 0/1 99 229 156 73 0.32 ncRNA_exonic rs12561804 ESPNP AU 0.3086 0.4512 Uncertain 1_17017734_C->T 1 17017734 17017734 C T snp 1554.77 0/1 99 213 147 66 0.31 ncRNA_exonic rs12561805 ESPNP AU 0.290136 0.4425 0.3092 0.4488 Uncertain 1_17022952_C->A 1 17022952 17022952 C A snp 3799.77 1/1 99 158 1 157 0.99 ncRNA_exonic rs557690 ESPNP AU 0.962859 0.995 0.9461 0.9974 Uncertain 1_17023110_G->A 1 17023110 17023110 G A snp 433.77 0/1 99 131 108 23 0.18 ncRNA_exonic rs11260887 ESPNP AU 0.323882 0.4792 0.3618 0.4497 Uncertain 1_17023143_C->T 1 17023143 17023143 C T snp 486.77 0/1 99 121 96 25 0.21 ncRNA_exonic rs559507 ESPNP AU 0.4394 0.4931 Uncertain 1_17023182_C->G 1 17023182 17023182 C G snp 731.77 0/1 99 128 93 35 0.27 ncRNA_exonic rs614461 ESPNP AU 0.482827 0.5357 0.4886 0.5185 Uncertain 1_17023376_C->T 1 17023376 17023376 C T snp 1564.77 0/1 99 250 184 66 0.26 ncRNA_exonic rs613579 ESPNP AU 0.394968 0.497 0.4346 0.4938 Uncertain 1_17023403_G->A 1 17023403 17023403 G A snp 1263.77 0/1 99 243 184 59 0.24 ncRNA_exonic rs10907267 ESPNP AU 0.314497 0.4563 0.3512 0.4568 Uncertain 1_17023483_C->T 1 17023483 17023483 C T snp 669.77 0/1 99 126 99 27 0.21 ncRNA_intronic rs563062 ESPNP AU Uncertain 1_17023509_T->C 1 17023509 17023509 T C snp 234.77 0/1 99 59 48 11 0.19 ncRNA_intronic rs563142 ESPNP AU 0.340056 0.4782 Uncertain 1_17023511_C->A 1 17023511 17023511 C A snp 2116.77 1/1 99 57 0 57 1.0 ncRNA_intronic rs563144 ESPNP AU 0.722444 0.8284 Uncertain 1_17023569_T->C 1 17023569 17023569 T C snp 44.74 1/1 6 2 0 2 1.0 ncRNA_intronic rs563960 ESPNP AU 0.888978 0.994 Uncertain 1_17025992_G->A 1 17025992 17025992 G A snp 755.77 0/1 99 114 80 34 0.3 ncRNA_exonic rs12026928 ESPNP AU 0.3798 0.5 Uncertain 1_17026004_C->G 1 17026004 17026004 C G snp 2167.77 0/1 99 131 41 90 0.69 ncRNA_exonic rs9661305 ESPNP AU 0.4434 0.4915 Uncertain 1_17026009_G->C 1 17026009 17026009 G C snp 131.77 0/1 99 131 118 13 0.1 ncRNA_exonic rs374225255 ESPNP AU 0.0031 0.1275 Uncertain 1_17026043_-->GCA 1 17026043 17026043 - GCA indel 2497.73 0/1 99 178 116 62 0.35 ncRNA_exonic rs532832462 ESPNP AU 0.4433 0.5 Uncertain 1_17026087_G->A 1 17026087 17026087 G A snp 1313.77 0/1 99 212 147 65 0.31 ncRNA_exonic rs678369 ESPNP AU 0.4473 0.5 Uncertain 1_17026232_G->C 1 17026232 17026232 G C snp 243.77 0/1 99 23 14 9 0.39 ncRNA_intronic rs677827 ESPNP AU Uncertain 1_17026254_G->A 1 17026254 17026254 G A snp 170.77 0/1 99 14 6 8 0.57 ncRNA_intronic rs77347183 ESPNP AU Uncertain 1_17026551_G->C 1 17026551 17026551 G C snp 112.77 0/1 99 35 28 7 0.2 ncRNA_intronic rs665763 ESPNP AU 0.4574 0.4973 Uncertain 1_17029462_A->G 1 17029462 17029462 A G snp 845.77 0/1 99 126 85 41 0.33 ncRNA_exonic rs11260891 ESPNP AU 0.3427 0.4521 Uncertain 1_17029513_C->G 1 17029513 17029513 C G snp 1768.77 0/1 99 112 37 75 0.67 ncRNA_intronic rs523936 ESPNP AU 0.4993 0.5017 Uncertain 1_17030325_A->G 1 17030325 17030325 A G snp 569.77 0/1 99 23 5 18 0.78 ncRNA_intronic rs601893 ESPNP AU Uncertain 1_17030336_C->T 1 17030336 17030336 C T snp 236.77 0/1 99 32 22 10 0.31 ncRNA_intronic rs4661915 ESPNP AU Uncertain 1_17030504_T->A 1 17030504 17030504 T A snp 2280.77 0/1 99 250 152 98 0.39 ncRNA_exonic rs601031 ESPNP AU 0.3292 0.3988 Uncertain 1_17030515_G->A 1 17030515 17030515 G A snp 2201.77 0/1 99 250 162 88 0.35 ncRNA_exonic rs201665864 ESPNP AU 0.3338 0.3873 Uncertain 1_17030518_C->T 1 17030518 17030518 C T snp 1990.77 0/1 99 250 163 87 0.35 ncRNA_exonic rs200139772 ESPNP AU 0.3334 0.3875 Uncertain 1_17030519_T->G 1 17030519 17030519 T G snp 2174.77 0/1 99 250 164 86 0.34 ncRNA_exonic rs201039793 ESPNP AU 0.3350 0.3920 Uncertain 1_17030590_G->A 1 17030590 17030590 G A snp 2012.77 0/1 99 250 171 79 0.32 ncRNA_exonic rs590170 ESPNP AU 0.3515 0.4169 Uncertain 1_17030716_G->A 1 17030716 17030716 G A snp 1394.77 0/1 99 125 74 51 0.41 ncRNA_intronic rs4661917 ESPNP AU Uncertain 1_17030729_C->T 1 17030729 17030729 C T snp 489.77 0/1 99 99 77 22 0.22 ncRNA_intronic rs12029338 ESPNP AU Uncertain 1_17030795_G->A 1 17030795 17030795 G A snp 34.78 0/1 27 3 1 2 0.67 ncRNA_intronic rs4661918 ESPNP AU Uncertain 1_17033758_A->G 1 17033758 17033758 A G snp 2083.77 0/1 99 121 41 80 0.66 ncRNA_intronic rs1736691 ESPNP AU 0.5386 0.5220 Uncertain 1_17033805_C->T 1 17033805 17033805 C T snp 1039.77 0/1 99 183 128 55 0.3 ncRNA_exonic rs59259153 ESPNP AU 0.3901 0.4649 Uncertain 1_17033854_C->T 1 17033854 17033854 C T snp 2708.77 0/1 99 187 70 117 0.63 ncRNA_exonic rs2476568 ESPNP AU 0.510583 0.5258 0.5322 0.5314 Uncertain 1_17034041_T->C 1 17034041 17034041 T C snp 528.77 0/1 99 31 10 21 0.68 ncRNA_exonic rs2743505 ESPNP AU 0.73742 0.7282 0.7564 0.6197 Uncertain 1_17034125_-->AGCT 1 17034125 17034125 - AGCT indel 593.73 0/1 99 41 29 12 0.29 ncRNA_exonic rs141324796 ESPNP AU 0.299521 0.4177 0.3865 0.4450 Uncertain 1_17034250_C->G 1 17034250 17034250 C G snp 98.77 0/1 99 35 30 5 0.14 ncRNA_intronic rs61773400 ESPNP AU 0.6057 0.5319 Uncertain 1_17034268_G->A 1 17034268 17034268 G A snp 249.77 0/1 99 41 25 16 0.39 ncRNA_intronic rs55732718 ESPNP AU 0.1672 0.4118 Uncertain 1_17034456_GCGCGCGT->- 1 17034456 17034463 GCGCGCGT - indel 4500.73 0/1 99 156 108 48 0.31 ncRNA_exonic rs140689885 ESPNP AU 0.202077 0.3135 0.2381 0.3348 ID=COSN216608;OCCURENCE=3(pancreas) Uncertain 1_17044433_C->T 1 17044433 17044433 C T snp 81.28 1/1 9 3 0 3 1.0 ncRNA_intronic rs3856289 ESPNP AU Uncertain 1_17044457_G->C 1 17044457 17044457 G C snp 272.8 1/1 21 9 0 9 1.0 ncRNA_intronic rs1318341 ESPNP AU 0.922125 0.996 Uncertain 1_17044511_T->C 1 17044511 17044511 T C snp 676.77 0/1 99 47 18 29 0.62 ncRNA_intronic rs2773185 ESPNP AU Uncertain 1_17044589_G->A 1 17044589 17044589 G A snp 600.77 0/1 99 106 73 33 0.31 ncRNA_intronic rs944147 ESPNP AU Uncertain 1_17044662_G->C 1 17044662 17044662 G C snp 521.77 0/1 99 83 55 28 0.34 ncRNA_intronic rs13374664 ESPNP AU Uncertain 1_17046361_A->T 1 17046361 17046361 A T snp 431.77 0/1 99 38 23 15 0.39 ncRNA_intronic rs3856291 ESPNP AU Uncertain 1_17046456_T->C 1 17046456 17046456 T C snp 2038.77 0/1 99 164 75 89 0.54 ncRNA_splicing rs3856292 ESPNP AU 0.4431 0.4994 Uncertain 1_17046549_G->A 1 17046549 17046549 G A snp 4274.77 0/1 99 245 68 177 0.72 ncRNA_exonic rs1755332 ESPNP AU 0.00319489 0.003 0.4503 0.4990 Uncertain 1_17046595_T->C 1 17046595 17046595 T C snp 1579.77 0/1 99 250 181 69 0.28 ncRNA_exonic rs3856293 ESPNP AU Uncertain 1_17046613_C->T 1 17046613 17046613 C T snp 3794.77 0/1 99 240 84 156 0.65 ncRNA_exonic rs3856294 ESPNP AU 0.00958466 Uncertain 1_17046698_C->G 1 17046698 17046698 C G snp 757.77 0/1 99 100 70 30 0.3 upstream rs3982089 ESPNP AU Uncertain 1_17083652_C->T 1 17083652 17083652 C T snp 127.77 0/1 99 46 33 13 0.28 UTR3 rs113710576 MST1L AU Uncertain 1_17083671_C->G 1 17083671 17083671 C G snp 238.77 0/1 99 60 37 23 0.38 UTR3 rs1057420 MST1L AU Uncertain 1_17083685_C->A 1 17083685 17083685 C A snp 245.77 0/1 99 69 44 25 0.36 UTR3 rs3197973 MST1L AU 0.4412 0.4871 Uncertain 1_17083807_T->C 1 17083807 17083807 T C snp 2117.77 1/1 99 99 0 99 1.0 exonic rs1057346 MST1L AU nonsynonymous SNV NM_001271733 exon15 c.A1990G p.T664A 0.689696 0.8819 0.5823 0.8186 1 T -0.978 T 0.0 T 0.0 T Pathogenic 1_17083888_C->T 1 17083888 17083888 C T snp 874.77 0/1 99 91 40 51 0.56 exonic rs1071687 MST1L AU nonsynonymous SNV NM_001271733 exon15 c.G1909A p.G637S 0.4278 0.4937 0.02 T -0.450 T 1.0 D 0.998 D Pathogenic 1_17083929_A->C 1 17083929 17083929 A C snp 127.77 0/1 99 81 59 22 0.27 intronic rs138589297 MST1L AU NM_001271733 exon1 c.162+41A>C 0.4548 0.4792 Uncertain 1_17083984_C->T 1 17083984 17083984 C T snp 644.77 0/1 99 180 144 36 0.2 intronic rs71269410 MST1L AU NM_001271733 exon2 c.286-28C>T 0.1631 0.2406 Uncertain 1_17084006_C->T 1 17084006 17084006 C T snp 5538.77 0/1 99 250 34 216 0.86 intronic rs2446544 MST1L AU NM_001271733 exon2 c.286-6C>T 0.4938 0.5075 Uncertain 1_17084027_C->G 1 17084027 17084027 C G snp 371.77 0/1 99 250 222 28 0.11 exonic rs751620437 MST1L AU nonsynonymous SNV NM_001271733 exon14 c.G1894C p.V632L 0.0002 0.0015 0.02 T -0.879 T 0.99 D 0.539 D Pathogenic 1_17084510_G->A 1 17084510 17084510 G A snp 1330.77 0/1 99 250 176 74 0.3 exonic rs11260921 MST1L AU synonymous SNV NM_001271733 exon12 c.C1588T p.L530L 0.1920 0.4038 Uncertain 1_17084537_GGAACA->- 1 17084537 17084542 GGAACA - indel 4709.73 0/1 99 205 141 64 0.31 exonic rs142741624 MST1L AU nonframeshift deletion NM_001271733 exon12 c.1556_1561del p.519_521del 0.1536 0.3508 Uncertain 1_17084589_A->T 1 17084589 17084589 A T snp 256.77 0/1 99 250 214 36 0.14 splicing rs12036749 MST1L AU NM_001271733 exon4 c.857+6A>T 0.2236 0.4447 Pathogenic 1_17084755_T->C 1 17084755 17084755 T C snp 2382.77 1/1 99 87 0 87 1.0 intronic rs140682808 MST1L AU NM_001271733 exon4 c.857+172T>C 0.1537 0.3695 Uncertain 1_17084815_G->A 1 17084815 17084815 G A snp 454.77 0/1 90 24 4 20 0.83 intronic rs11260922 MST1L AU NM_001271733 exon5 c.1234-145G>A 0.591653 0.5575 0.6766 0.6205 Uncertain 1_17084831_C->G 1 17084831 17084831 C G snp 168.77 0/1 99 28 21 7 0.25 intronic rs376787430 MST1L AU NM_001271733 exon5 c.1234-129C>G 0.1952 0.2488 Uncertain 1_17084948_A->C 1 17084948 17084948 A C snp 2791.77 0/1 99 236 120 116 0.49 intronic rs199741699 MST1L AU NM_001271733 exon5 c.1234-12A>C 0.3205 0.4767 Uncertain 1_17084968_G->C 1 17084968 17084968 G C snp 575.77 0/1 99 250 210 40 0.16 exonic rs2761533 MST1L AU nonsynonymous SNV NM_001271733 exon11 c.C1507G p.R503G 0.4756 0.4731 0.01 T -0.613 T 0.973 D 0.908 D Pathogenic 1_17085006_C->T 1 17085006 17085006 C T snp 639.77 0/1 99 250 202 48 0.19 exonic rs11800295 MST1L AU nonsynonymous SNV NM_001271733 exon11 c.G1469A p.G490E 0.1096 0.2363 0.21 T -0.615 T 1.0 D 0.997 D Pathogenic 1_17085165_G->C 1 17085165 17085165 G C snp 1805.77 1/1 99 123 1 122 0.99 intronic rs2490828 MST1L AU NM_001271733 exon5 c.1355+84G>C 0.963259 1 0.8811 0.9971 Uncertain 1_17085168_A->T 1 17085168 17085168 A T snp 180.77 0/1 99 114 86 28 0.25 intronic rs199962909 MST1L AU NM_001271733 exon5 c.1355+87A>T 0.0497204 0.1369 0.0697 0.2647 Uncertain 1_17085255_A->G 1 17085255 17085255 A G snp 220.77 0/1 99 48 25 23 0.48 intronic rs2281029 MST1L AU NM_001271733 exon6 c.1571-42A>G 0.408746 0.4683 0.4453 0.5036 Uncertain 1_17085265_T->C 1 17085265 17085265 T C snp 594.77 1/1 54 35 0 35 1.0 intronic rs2490829 MST1L AU NM_001271733 exon6 c.1571-32T>C 0.687899 0.9276 0.2856 0.5928 Uncertain 1_17085267_A->G 1 17085267 17085267 A G snp 632.77 1/1 57 37 0 37 1.0 intronic rs2077142 MST1L AU NM_001271733 exon6 c.1571-30A>G 0.686701 0.9276 0.2818 0.5943 Uncertain 1_17085412_C->T 1 17085412 17085412 C T snp 1162.77 0/1 99 250 182 68 0.27 exonic rs872964 MST1L AU nonsynonymous SNV NM_001271733 exon10 c.G1279A p.A427T 0.459864 0.4554 0.4743 0.4860 0.14 T -1.043 T 0.11 T 0.009 T Pathogenic 1_17085427_T->C 1 17085427 17085427 T C snp 1342.77 0/1 99 249 173 76 0.31 exonic rs2002186 MST1L AU nonsynonymous SNV NM_001271733 exon10 c.A1264G p.I422V 0.4958 0.4925 0 D -1.001 T 0.004 T 0.003 T Pathogenic 1_17085502_T->C 1 17085502 17085502 T C snp 3656.77 0/1 99 250 102 148 0.59 exonic rs2329006 MST1L AU nonsynonymous SNV NM_001271733 exon10 c.A1189G p.M397V 0.4899 0.4972 -1.027 T 0.235 T 0.015 T Pathogenic 1_17085542_G->A 1 17085542 17085542 G A snp 262.77 0/1 99 234 185 49 0.21 intronic rs2261754 MST1L AU NM_001271733 exon6 c.1804+12G>A 0.2144 0.1402 Uncertain 1_17085564_A->G 1 17085564 17085564 A G snp 1597.77 0/1 99 211 92 119 0.56 exonic rs3851921 MST1L AU nonsynonymous SNV NM_001271733 exon9 c.T1157C p.L386P 0.1686 0.1184 0.4 T -1.061 T 0.001 T 0.003 T Pathogenic 1_17085671_C->G 1 17085671 17085671 C G snp 805.77 0/1 99 144 87 57 0.4 intronic rs3863806 MST1L AU NM_001271733 exon7 c.1937+8C>G 0.4762 0.4916 Uncertain 1_17085677_G->A 1 17085677 17085677 G A snp 280.77 0/1 99 140 107 33 0.24 intronic rs3863805 MST1L AU NM_001271733 exon7 c.1937+14G>A 0.4195 0.4172 Uncertain 1_17085712_C->T 1 17085712 17085712 C T snp 319.77 0/1 99 116 93 23 0.2 intronic rs3863803 MST1L AU NM_001271733 exon7 c.1937+49C>T 0.4393 0.4499 Uncertain 1_17085791_G->A 1 17085791 17085791 G A snp 175.77 0/1 99 122 104 18 0.15 exonic rs2297532 MST1L AU nonsynonymous SNV NM_001271733 exon8 c.C1030T p.R344C 0.0175 0.0636 0 D -0.848 T 1.0 D 0.991 D Pathogenic 1_17085834_G->T 1 17085834 17085834 G T snp 2659.77 1/1 99 106 1 105 0.99 exonic rs2005622 MST1L AU synonymous SNV NM_001271733 exon8 c.C987A p.T329T 0.7900 0.7884 Uncertain 1_17085908_C->G 1 17085908 17085908 C G snp 1031.77 0/1 99 104 55 49 0.47 intronic rs1805293 MST1L AU NM_001271733 exon8 c.2168+14C>G 0.2784 0.3615 Uncertain 1_17086000_CCCG->- 1 17086000 17086003 CCCG - indel 673.73 0/1 99 41 18 23 0.56 exonic rs59375146 MST1L AU frameshift deletion NM_001271733 exon7 c.894_897del p.G298fs 0.0008 0.0030 ID=COSM1744914;OCCURENCE=2(biliary_tract) Pathogenic 1_17086052_T->C 1 17086052 17086052 T C snp 206.78 1/1 24 17 0 17 1.0 exonic rs1057286 MST1L AU nonsynonymous SNV NM_001271733 exon7 c.A845G p.H282R 0.994808 0.999 0.9899 0.9994 0.28 T -1.054 T 0.001 T 0.001 T Pathogenic 1_17086236_G->C 1 17086236 17086236 G C snp 87.77 0/1 99 32 24 8 0.25 intronic rs61769737 MST1L AU NM_001271733 exon9 c.2455+55G>C Uncertain 1_17086870_T->C 1 17086870 17086870 T C snp 1395.77 1/1 99 79 2 77 0.97 exonic rs2261727 MST1L AU nonsynonymous SNV NM_001271733 exon4 c.A454G p.S152G 0.500399 0.7867 0.1606 0.3336 0.76 T -1.008 T 0.001 T 0.001 T Pathogenic 1_17087245_C->- 1 17087245 17087245 C - indel 3133.73 0/1 99 209 107 102 0.49 splicing rs58502471 MST1L AU NM_001271733 exon13 c.3519delC 0.248203 0.3621 0.2752 0.3969 Pathogenic 1_17087262_C->T 1 17087262 17087262 C T snp 74.77 0/1 99 250 212 38 0.15 exonic rs2926375 MST1L AU nonsynonymous SNV NM_001271733 exon3 c.G322A p.E108K 0.3692 0.3125 1 T -1.014 T 0.001 T 0.001 T Pathogenic 1_17087292_A->G 1 17087292 17087292 A G snp 241.77 0/1 99 250 210 40 0.16 exonic rs2179161 MST1L AU nonsynonymous SNV NM_001271733 exon3 c.T292C p.W98R 0.0730 0.0482 0.4 T -1.008 T 0.0 T 0.001 T Pathogenic 1_17087299_T->C 1 17087299 17087299 T C snp 461.77 0/1 99 250 204 46 0.18 exonic rs2179162 MST1L AU synonymous SNV NM_001271733 exon3 c.A285G p.S95S 0.1223 0.0504 Uncertain 1_17087305_G->C 1 17087305 17087305 G C snp 581.77 0/1 99 250 200 50 0.2 exonic rs12046578 MST1L AU synonymous SNV NM_001271733 exon3 c.C279G p.P93P 0.0773 0.0510 Uncertain 1_17087365_C->G 1 17087365 17087365 C G snp 4387.77 0/1 99 250 77 173 0.69 exonic rs2446556 MST1L AU synonymous SNV NM_001271733 exon3 c.G219C p.A73A 0.5517 0.5407 Uncertain 1_17087465_G->A 1 17087465 17087465 G A snp 1586.77 0/1 99 236 163 73 0.31 exonic rs11260924 MST1L AU nonsynonymous SNV NM_001271733 exon2 c.C200T p.P67L 0.4670 0.4922 0.34 T -1.043 T 0.007 T 0.009 T Pathogenic 1_17087542_GTGCT->- 1 17087542 17087546 GTGCT - indel 4375.73 0/1 99 207 135 72 0.35 exonic rs113982165 MST1L AU frameshift deletion NM_001271733 exon2 c.119_123del p.Q40fs 0.4409 0.4701 ID=COSM1317622,COSM1317623;OCCURENCE=2(haematopoietic_and_lymphoid_tissue),3(breast) Pathogenic 1_17087582_G->A 1 17087582 17087582 G A snp 1219.77 0/1 99 178 120 58 0.33 exonic rs10907280 MST1L AU nonsynonymous SNV NM_001271733 exon2 c.C83T p.S28L 0.4796 0.4823 1 T -0.961 T 0.001 T 0.0 T Pathogenic 1_17197525_T->G 1 17197525 17197525 T G snp 387.77 0/1 99 250 204 46 0.18 intergenic rs72907888 MIR3675 AU 0.0897 0.1402 Uncertain 1_17197563_G->T 1 17197563 17197563 G T snp 3616.77 0/1 99 250 83 167 0.67 intergenic rs7556482 MIR3675 AU 0.3761 0.4747 Uncertain 1_17197571_G->A 1 17197571 17197571 G A snp 1537.77 0/1 99 250 166 84 0.34 intergenic rs76372883 MIR3675 AU 0.1020 0.1105 Uncertain 1_17197595_A->C 1 17197595 17197595 A C snp 1474.77 0/1 99 250 162 88 0.35 intergenic rs201521253 MIR3675 AU 0.0948 0.15 0.53 T -0.993 T Uncertain 1_17197609_T->C 1 17197609 17197609 T C snp 1588.77 0/1 99 250 163 87 0.35 intergenic rs150993810 MIR3675 AU 0.1770 0.2524 Uncertain 1_17197615_C->A 1 17197615 17197615 C A snp 1530.77 0/1 99 247 161 86 0.35 intergenic rs146936960 MIR3675 AU 0.1770 0.25 0.7 T -0.989 T Uncertain 1_17197619_A->G 1 17197619 17197619 A G snp 1602.77 0/1 99 250 161 89 0.36 intergenic rs113661539 MIR3675 AU 0.1844 0.2624 0.15 T -0.994 T Uncertain 1_17197685_G->A 1 17197685 17197685 G A snp 1586.77 0/1 99 235 157 78 0.33 intergenic rs7513766 MIR3675 AU Uncertain 1_17197690_T->G 1 17197690 17197690 T G snp 2116.77 0/1 99 231 136 95 0.41 intergenic rs72642967 MIR3675 AU Uncertain 1_17197694_G->A 1 17197694 17197694 G A snp 1850.77 0/1 99 227 134 93 0.41 intergenic rs72642969 MIR3675 AU Uncertain 1_17197710_G->C 1 17197710 17197710 G C snp 1735.77 0/1 99 212 130 82 0.39 intergenic rs114564385 MIR3675 AU Uncertain 1_17197715_G->A 1 17197715 17197715 G A snp 1669.77 0/1 99 208 126 82 0.39 intergenic rs202012907 MIR3675 AU Uncertain 1_17197724_C->G 1 17197724 17197724 C G snp 1593.77 0/1 99 186 117 69 0.37 intergenic rs3897252 MIR3675 AU Uncertain 1_17197725_C->G 1 17197725 17197725 C G snp 1550.77 0/1 99 182 111 71 0.39 intergenic rs75030124 MIR3675 AU Uncertain 1_17197758_C->G 1 17197758 17197758 C G snp 1056.77 0/1 99 101 59 42 0.42 intergenic rs143100028 MIR3675 AU Uncertain 1_17197764_G->A 1 17197764 17197764 G A snp 882.77 0/1 99 82 46 36 0.44 intergenic rs150815118 MIR3675 AU 0.00159744 0.003 Uncertain 1_17197771_G->A 1 17197771 17197771 G A snp 749.77 0/1 99 69 40 29 0.42 intergenic rs139655267 MIR3675 AU 0.00678914 0.005 Uncertain 1_17197777_T->G 1 17197777 17197777 T G snp 600.77 0/1 99 57 35 22 0.39 intergenic rs149102001 MIR3675 AU Uncertain 1_17197779_G->A 1 17197779 17197779 G A snp 552.77 0/1 99 53 32 21 0.4 intergenic rs138448635 MIR3675 AU Uncertain 1_17197798_A->G 1 17197798 17197798 A G snp 339.77 0/1 99 28 16 12 0.43 intergenic rs112783082 MIR3675 AU Uncertain 1_17197801_C->G 1 17197801 17197801 C G snp 191.77 0/1 99 23 15 8 0.35 intergenic rs1755367 MIR3675 AU Uncertain 1_17197817_C->A 1 17197817 17197817 C A snp 57.77 0/1 86 12 8 4 0.33 intergenic rs143935929 MIR3675 AU Uncertain 1_17197818_C->G 1 17197818 17197818 C G snp 55.77 0/1 84 12 8 4 0.33 intergenic rs201954177 MIR3675 AU Uncertain 1_17198209_A->C 1 17198209 17198209 A C snp 276.77 0/1 99 43 19 24 0.56 intergenic rs61768108 MIR3675 AU Uncertain 1_17198211_C->A 1 17198211 17198211 C A snp 289.77 0/1 99 43 20 23 0.53 intergenic rs61768109 MIR3675 AU Uncertain 1_17198215_A->C 1 17198215 17198215 A C snp 332.77 0/1 99 48 24 24 0.5 intergenic rs61768117 MIR3675 AU Uncertain 1_17198381_T->G 1 17198381 17198381 T G snp 676.77 1/1 63 53 0 53 1.0 intergenic rs199674141 MIR3675 AU 0.327676 0.6736 0.0045 0.0463 1 T -1.013 T Uncertain 1_17248500_A->G 1 17248500 17248500 A G snp 1865.77 0/1 99 158 81 77 0.49 UTR5 rs6683035 CROCC AU 0.431953 0.5033 0.5163 Uncertain 1_17248532_A->G 1 17248532 17248532 A G snp 5533.77 1/1 99 203 0 203 1.0 exonic rs6586566 CROCC AU nonsynonymous SNV NM_014675 exon1 c.A19G p.R7G 1 1 0.9998 1 1 T 0.0 P -0.982 T 0.0 T 0.0 T Pathogenic 1_17248797_G->A 1 17248797 17248797 G A snp 37.77 0/1 66 4 2 2 0.5 intronic rs11203422 CROCC AU NM_014675 exon1 c.60+224G>A 0.196486 0.376 Uncertain 1_17249395_A->G 1 17249395 17249395 A G snp 2680.77 0/1 99 209 106 103 0.49 intronic rs6586567 CROCC AU NM_014675 exon2 c.780+102A>G 0.681709 0.5774 Uncertain 1_17250762_G->C 1 17250762 17250762 G C snp 121.77 0/1 99 10 4 6 0.6 intronic rs58609892 CROCC AU NM_014675 exon3 c.2306-57G>C Uncertain 1_17250836_A->G 1 17250836 17250836 A G snp 855.77 0/1 99 63 30 33 0.52 exonic rs57174186 CROCC AU synonymous SNV NM_014675 exon3 c.A213G p.T71T 0.341280 0.3367 0.4356 Uncertain 1_17251055_C->T 1 17251055 17251055 C T snp 1004.77 0/1 99 118 70 48 0.41 intronic rs9435703 CROCC AU NM_014675 exon3 c.2461+81C>T 0.544728 0.5516 Uncertain 1_17256313_G->A 1 17256313 17256313 G A snp 40.77 0/1 69 10 7 3 0.3 intronic rs9435710 CROCC AU NM_014675 exon4 c.7827-27G>A 0.4377 0.4916 Uncertain 1_17262942_G->T 1 17262942 17262942 G T snp 98.77 0/1 99 13 8 5 0.38 intronic rs7529769 CROCC AU NM_014675 exon9 c.14618-189G>T Uncertain 1_17262953_A->G 1 17262953 17262953 A G snp 61.77 0/1 90 15 10 5 0.33 intronic rs7521989 CROCC AU NM_014675 exon9 c.14618-178A>G Uncertain 1_17264863_A->G 1 17264863 17264863 A G snp 164.77 0/1 57 8 2 6 0.75 intronic rs4275496 CROCC AU NM_014675 exon11 c.16381-31A>G 0.4636 0.4863 Uncertain 1_17264920_C->T 1 17264920 17264920 C T snp 246.77 0/1 99 17 4 13 0.76 exonic rs4463721 CROCC AU nonsynonymous SNV NM_014675 exon11 c.C1316T p.A439V 0.4003 0.4803 0.63 T 0.992 N -0.903 T 0.655 T 0.135 P Pathogenic 1_17264939_T->C 1 17264939 17264939 T C snp 287.77 0/1 99 23 8 15 0.65 exonic rs4558023 CROCC AU synonymous SNV NM_014675 exon11 c.T1335C p.D445D 0.4080 0.4812 Uncertain 1_17265327_A->G 1 17265327 17265327 A G snp 1327.77 0/1 99 132 68 64 0.48 intronic rs4269813 CROCC AU NM_014675 exon12 c.16890-76A>G Uncertain 1_17265366_C->G 1 17265366 17265366 C G snp 1964.77 0/1 99 169 80 89 0.53 intronic rs4269812 CROCC AU NM_014675 exon12 c.16890-37C>G 0.336746 0.3435 0.4404 Uncertain 1_17265560_C->T 1 17265560 17265560 C T snp 489.77 0/1 99 26 10 16 0.62 exonic rs9435793 CROCC AU nonsynonymous SNV NM_014675 exon12 c.C1531T p.P511S 0.3898 0.4628 0.81 T 0.888 N -0.958 T 0.634 T 0.367 P Pathogenic 1_17266536_G->C 1 17266536 17266536 G C snp 241.77 0/1 99 16 6 10 0.63 exonic rs9435714 CROCC AU nonsynonymous SNV NM_014675 exon13 c.G1756C p.D586H 0.2566 0.4145 0.09 T 0.990 D -0.955 T 1.0 D 0.974 D Pathogenic 1_17267302_A->G 1 17267302 17267302 A G snp 651.77 0/1 99 57 29 28 0.49 intronic rs6586577 CROCC AU NM_014675 exon13 c.18075+714A>G 0.4574 0.4940 Uncertain 1_17267496_C->T 1 17267496 17267496 C T snp 808.77 0/1 99 74 38 36 0.49 intronic rs6586578 CROCC AU NM_014675 exon13 c.18075+908C>T 0.4022 0.4896 Uncertain 1_17270751_G->A 1 17270751 17270751 G A snp 1280.77 0/1 99 109 49 60 0.55 exonic rs12025984 CROCC AU synonymous SNV NM_014675 exon14 c.G1965A p.A655A 0.23762 0.4643 0.2454 0.4844 Uncertain 1_17270823_C->T 1 17270823 17270823 C T snp 416.77 0/1 99 89 65 24 0.27 intronic CROCC AU NM_014675 exon14 c.22264+46C>T Uncertain 1_17270845_-->G 1 17270845 17270845 - G indel 1375.73 0/1 99 60 24 36 0.6 intronic rs564050385 CROCC AU NM_014675 exon14 c.22264+68insG 0.29972 0.4048 Uncertain 1_17273174_T->G 1 17273174 17273174 T G snp 73.77 0/1 99 67 58 9 0.13 intronic rs375844839 CROCC AU NM_014675 exon17 c.24742-81T>G Uncertain 1_17273396_A->G 1 17273396 17273396 A G snp 1264.77 0/1 99 98 42 56 0.57 exonic rs7537468 CROCC AU synonymous SNV NM_014675 exon17 c.A2424G p.L808L 0.120956 0.2735 0.4630 Uncertain 1_17273444_G->A 1 17273444 17273444 G A snp 615.77 0/1 99 46 22 24 0.52 exonic rs7545185 CROCC AU synonymous SNV NM_014675 exon17 c.G2472A p.T824T 0.110578 0.2456 0.4569 Uncertain 1_17273493_A->C 1 17273493 17273493 A C snp 494.77 0/1 99 31 13 18 0.58 intronic rs7537563 CROCC AU NM_014675 exon17 c.24973+7A>C 0.4583 0.4868 Uncertain 1_17275054_G->C 1 17275054 17275054 G C snp 348.77 0/1 99 22 9 13 0.59 intronic rs6698564 CROCC AU NM_014675 exon18 c.26506+35G>C 0.329872 0.4077 0.4298 0.4799 Uncertain 1_17275072_A->G 1 17275072 17275072 A G snp 158.77 0/1 99 9 4 5 0.56 intronic rs6690301 CROCC AU NM_014675 exon18 c.26506+53A>G Uncertain 1_17279893_A->T 1 17279893 17279893 A T snp 195.77 0/1 99 22 11 11 0.5 exonic CROCC AU stopgain NM_014675 exon21 c.A3103T p.K1035X 1 T 1 A Pathogenic 1_17281003_T->C 1 17281003 17281003 T C snp 513.77 1/1 39 16 0 16 1.0 intronic rs2076606 CROCC AU NM_014675 exon22 c.32339+151T>C 0.672524 0.87 Uncertain 1_17295679_T->C 1 17295679 17295679 T C snp 2810.77 1/1 99 103 0 103 1.0 exonic rs4920574 CROCC AU synonymous SNV NM_014675 exon32 c.T5145C p.A1715A 0.944688 0.9663 0.926362 0.9155 0.9653 Uncertain 1_17297289_C->T 1 17297289 17297289 C T snp 351.78 1/1 27 10 0 10 1.0 intronic rs9435656 CROCC AU NM_014675 exon35 c.48749+27C>T 0.639177 0.8512 0.622440 0.7043 0.8495 Uncertain 1_17299014_A->C 1 17299014 17299014 A C snp 508.77 1/1 39 14 0 14 1.0 UTR3 rs6661019 CROCC AU 0.551118 0.5556 Uncertain 1_17301448_C->T 1 17301448 17301448 C T snp 197.77 0/1 59 9 3 6 0.67 exonic rs2235933 MFAP2 AU synonymous SNV NM_002403 exon9 c.G519A p.A173A 0.341054 0.6151 0.3551 0.6461 Uncertain 1_17301672_T->C 1 17301672 17301672 T C snp 703.77 0/1 99 60 34 26 0.43 intronic rs761423 MFAP2 AU NM_002403 exon2 c.349-91T>C 0.377796 0.2401 Uncertain 1_17301780_A->G 1 17301780 17301780 A G snp 979.77 0/1 99 71 27 44 0.62 exonic rs761422 MFAP2 AU synonymous SNV NM_002403 exon8 c.T432C p.H144H 0.415335 0.2401 0.465631 0.4427 0.2560 Uncertain 1_17303589_C->T 1 17303589 17303589 C T snp 2248.77 0/1 99 189 94 95 0.5 intronic rs2235932 MFAP2 AU NM_002403 exon7 c.2189-14C>T 0.376797 0.2331 0.486698 0.5106 0.2560 Uncertain 1_17303792_C->T 1 17303792 17303792 C T snp 556.77 1/1 42 15 0 15 1.0 intronic rs4920588 MFAP2 AU NM_002403 exon7 c.2279+99C>T 0.779353 0.8423 Uncertain 1_17312743_C->T 1 17312743 17312743 C T snp 827.77 0/1 99 62 27 35 0.56 exonic rs3170740 ATP13A2 AR synonymous SNV NM_022089 exon29 c.G3516A p.P1172P 0.33127 0.246 0.421318 0.5065 0.3343 1 T 0.969 P -1.033 T 0.001 T 0.001 T CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000116444.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Likely benign 1_17313157_G->A 1 17313157 17313157 G A snp 436.77 0/1 99 24 10 14 0.58 intronic rs2076605 ATP13A2 AR NM_022089 exon2 c.412+30G>A 0.346845 0.2599 0.423184 0.4958 0.3426 Uncertain 1_17313343_G->A 1 17313343 17313343 G A snp 842.77 0/1 99 51 19 32 0.63 exonic rs9435659 ATP13A2 AR synonymous SNV NM_022089 exon27 c.C3192T p.A1064A 0.338458 0.2599 0.416423 0.4648 0.2930 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000116442.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 1_17313454_G->A 1 17313454 17313454 G A snp 745.77 0/1 99 81 49 32 0.4 splicing rs7531163 ATP13A2 AR NM_022089 exon3 c.736+3G>A 0.30651 0.5774 0.215285 0.2739 0.5515 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000116440.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 1_17313654_C->T 1 17313654 17313654 C T snp 834.77 0/1 99 73 39 34 0.47 exonic rs761421 ATP13A2 AR synonymous SNV NM_022089 exon26 c.G2970A p.V990V 0.346246 0.252 0.425561 0.4639 0.2894 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000116439.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 1_17314702_C->T 1 17314702 17314702 C T snp 3348.77 0/1 99 240 109 131 0.55 exonic rs3738815 ATP13A2 AR synonymous SNV NM_022089 exon25 c.G2790A p.S930S 0.290935 0.5774 0.178072 0.2414 0.5525 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000116437.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 1_17314942_G->A 1 17314942 17314942 G A snp 1696.77 0/1 99 130 60 70 0.54 exonic rs9435662 ATP13A2 AR synonymous SNV NM_022089 exon24 c.C2637T p.G879G 0.338658 0.2599 0.415424 0.4590 0.2900 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000116435.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 1_17318065_T->C 1 17318065 17318065 T C snp 50.74 1/1 6 2 0 2 1.0 intronic rs2076604 ATP13A2 AR NM_022089 exon10 c.5513-163T>C 0.291134 0.5804 Uncertain 1_17319011_G->A 1 17319011 17319011 G A snp 1514.77 0/1 99 150 85 65 0.43 exonic rs2076603 ATP13A2 AR synonymous SNV NM_022089 exon17 c.C1815T p.P605P 0.448482 0.2589 0.569276 0.5540 0.2867 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000116434.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 1_17323449_T->C 1 17323449 17323449 T C snp 185.9 1/1 15 7 0 7 1.0 intronic rs9435736 ATP13A2 AR NM_022089 exon18 c.10799-65T>C 0.792532 0.8383 Uncertain 1_17331676_A->G 1 17331676 17331676 A G snp 480.77 0/1 99 57 38 19 0.33 intronic rs3738814 ATP13A2 AR NM_022089 exon26 c.18852+109A>G 0.603035 0.7331 Uncertain 1_17355336_T->G 1 17355336 17355336 T G snp 40.77 0/1 33 3 1 2 0.67 intronic rs79034454 SDHB AU,AD,AO NM_003000 exon5 c.9856+105T>G 0.000798722 0.003 Uncertain 1_17359386_T->C 1 17359386 17359386 T C snp 40.77 0/1 69 5 3 2 0.4 intronic rs10887990 SDHB AU,AD,AO NM_003000 exon6 c.14179-168T>C 0.346446 0.2907 Uncertain 1_17359676_C->A 1 17359676 17359676 C A snp 1235.77 1/1 90 37 0 37 1.0 intronic rs1022580 SDHB AU,AD,AO NM_003000 exon6 c.14265+36C>A 0.959065 0.996 0.952330 0.9719 0.9985 Uncertain 1_17371152_T->C 1 17371152 17371152 T C snp 88.77 0/1 99 20 15 5 0.25 intronic rs12073028 SDHB AU,AD,AO NM_003000 exon7 c.25880-103T>C 0.475439 0.2887 Uncertain 1_17371494_C->T 1 17371494 17371494 C T snp 43.77 0/1 72 6 3 3 0.5 intronic rs9435745 SDHB AU,AD,AO NM_003000 exon7 c.26008+111C>T 0.345647 0.2887 Uncertain 1_17380497_G->T 1 17380497 17380497 G T snp 2269.77 1/1 99 86 0 86 1.0 exonic rs2746462 SDHB AU,AD,AO synonymous SNV NM_003000 exon1 c.C18A p.A6A 0.957069 0.996 0.951469 0.9721 0.9986 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|Hereditary_cancer-predisposing_syndrome;CLNREVSTAT=criteria_provided\x2c_multiple_submitters\x2c_no_conflicts|criteria_provided\x2c_single_submitter;CLNACC=RCV000037717.5|RCV000162442.1;CLNDSDB=MedGen|MedGen:SNOMED_CT;CLNDSDBID=CN169374|C0027672:699346009 Uncertain 1_17395480_G->A 1 17395480 17395480 G A snp 723.77 0/1 99 72 46 26 0.36 UTR3 rs2076599 PADI2 AU 0.441494 0.3938 Uncertain 1_17395521_G->A 1 17395521 17395521 G A snp 1743.77 0/1 99 181 111 70 0.39 UTR3 rs2076598 PADI2 AU 0.441494 0.3938 0.526219 0.5534 0.4072 Uncertain 1_17396498_T->C 1 17396498 17396498 T C snp 928.77 0/1 99 40 10 30 0.75 intronic rs2076596 PADI2 AU NM_007365 exon2 c.1044-84T>C 0.441893 0.3938 Uncertain 1_17396703_T->C 1 17396703 17396703 T C snp 2375.77 0/1 99 216 105 111 0.51 exonic rs2076595 PADI2 AU synonymous SNV NM_007365 exon15 c.A1644G p.L548L 0.444688 0.3929 0.528910 0.5538 0.4075 Uncertain 1_17396876_C->A 1 17396876 17396876 C A snp 40.77 0/1 69 5 3 2 0.4 intronic rs2076594 PADI2 AU NM_007365 exon2 c.1173+165C>A 0.444289 0.3958 Uncertain 1_17398066_G->C 1 17398066 17398066 G C snp 401.77 0/1 99 37 18 19 0.51 intronic rs875219 PADI2 AU NM_007365 exon3 c.2448+80G>C 0.527756 0.4107 Uncertain 1_17398069_T->C 1 17398069 17398069 T C snp 419.77 0/1 99 36 18 18 0.5 intronic rs875218 PADI2 AU NM_007365 exon3 c.2448+83T>C 0.527756 0.4107 Uncertain 1_17401283_C->T 1 17401283 17401283 C T snp 667.77 0/1 99 34 10 24 0.71 intronic rs3818041 PADI2 AU NM_007365 exon4 c.5812-67C>T 0.526558 0.4028 Uncertain 1_17402116_G->T 1 17402116 17402116 G T snp 1666.77 0/1 99 140 74 66 0.47 intronic rs3818035 PADI2 AU NM_007365 exon5 c.6635-57G>T 0.526358 0.4028 Uncertain 1_17402135_T->C 1 17402135 17402135 T C snp 1958.77 0/1 99 171 92 79 0.46 intronic rs3818034 PADI2 AU NM_007365 exon5 c.6635-38T>C 0.526158 0.4028 0.615639 0.6161 0.4118 Uncertain 1_17402159_G->A 1 17402159 17402159 G A snp 2385.77 0/1 99 207 107 100 0.48 intronic rs3818033 PADI2 AU NM_007365 exon5 c.6635-14G>A 0.525759 0.4018 0.615331 0.6144 0.4120 Uncertain 1_17402255_C->T 1 17402255 17402255 C T snp 2985.77 0/1 99 247 122 125 0.51 exonic rs3818032 PADI2 AU synonymous SNV NM_007365 exon12 c.G1374A p.A458A 0.525958 0.4028 0.615101 0.6133 0.4127 Uncertain 1_17402347_C->T 1 17402347 17402347 C T snp 5770.77 1/1 99 212 0 212 1.0 intronic rs2647205 PADI2 AU NM_007365 exon5 c.6780+29C>T 0.983227 0.996 0.970860 0.9779 0.9985 Uncertain 1_17402418_A->G 1 17402418 17402418 A G snp 1206.77 0/1 99 96 45 51 0.53 intronic rs3818031 PADI2 AU NM_007365 exon5 c.6780+100A>G 0.526158 0.4038 Uncertain 1_17402420_A->G 1 17402420 17402420 A G snp 1066.77 0/1 99 93 50 43 0.46 intronic rs2647204 PADI2 AU NM_007365 exon5 c.6780+102A>G 0.442292 0.5923 Uncertain 1_17405809_G->A 1 17405809 17405809 G A snp 1896.77 0/1 99 161 82 79 0.49 exonic rs2057096 PADI2 AU synonymous SNV NM_007365 exon11 c.C1260T p.N420N 0.434505 0.3879 0.504767 0.5377 0.4020 Uncertain 1_17405916_C->T 1 17405916 17405916 C T snp 1187.77 0/1 99 116 65 51 0.44 splicing rs2057095 PADI2 AU NM_007365 exon6 c.10372+6C>T 0.434105 0.3879 0.504536 0.5382 0.4006 Pathogenic 1_17405949_C->T 1 17405949 17405949 C T snp 808.77 0/1 99 65 33 32 0.49 intronic rs2057094 PADI2 AU NM_007365 exon6 c.10372+39C>T 0.504792 0.3879 0.569429 0.5560 0.3995 Uncertain 1_17406015_C->T 1 17406015 17406015 C T snp 585.77 1/1 45 18 0 18 1.0 intronic rs2057093 PADI2 AU NM_007365 exon6 c.10372+105C>T 0.913339 0.9812 Uncertain 1_17406045_C->T 1 17406045 17406045 C T snp 164.78 0/1 24 6 1 5 0.83 intronic rs2057092 PADI2 AU NM_007365 exon6 c.10372+135C>T 0.424121 0.3879 Uncertain 1_17409017_G->A 1 17409017 17409017 G A snp 517.77 0/1 99 39 18 21 0.54 intronic rs2076617 PADI2 AU NM_007365 exon7 c.13501-22G>A 0.395367 0.5933 0.304244 0.3502 0.5904 Uncertain 1_17409241_G->A 1 17409241 17409241 G A snp 500.77 0/1 99 35 15 20 0.57 intronic rs2235925 PADI2 AU NM_007365 exon7 c.13609+94G>A 0.478035 0.5933 Uncertain 1_17410364_G->A 1 17410364 17410364 G A snp 627.77 0/1 99 57 30 27 0.47 intronic rs1883913 PADI2 AU NM_007365 exon8 c.14794+32G>A 0.42472 0.3879 0.492004 0.5350 0.4003 Uncertain 1_17413121_A->C 1 17413121 17413121 A C snp 2521.77 0/1 99 167 62 105 0.63 exonic rs2076615 PADI2 AU synonymous SNV NM_007365 exon7 c.T729G p.G243G 0.363618 0.5585 0.251346 0.2969 0.5703 0.991 P -0.970 T 0.008 T 0.01 T Likely benign 1_17418883_A->G 1 17418883 17418883 A G snp 1759.77 1/1 99 63 0 63 1.0 intronic rs2647184 PADI2 AU NM_007365 exon11 c.23364-19A>G 0.975639 0.997 0.949716 0.9556 0.9984 Uncertain 1_17418894_A->G 1 17418894 17418894 A G snp 1021.77 0/1 99 72 29 43 0.6 intronic rs2273111 PADI2 AU NM_007365 exon11 c.23364-8A>G 0.48722 0.4048 0.568891 0.5613 0.4096 Uncertain 1_17419024_G->A 1 17419024 17419024 G A snp 1596.77 0/1 99 131 59 72 0.55 exonic rs11203297 PADI2 AU synonymous SNV NM_007365 exon6 c.C534T p.L178L 0.28135 0.5099 0.167922 0.2479 0.4983 Uncertain 1_17419066_T->C 1 17419066 17419066 T C snp 1110.77 0/1 99 117 63 54 0.46 intronic rs11203298 PADI2 AU NM_007365 exon11 c.23490+38T>C 0.48742 0.4048 0.569199 0.5646 0.4119 Uncertain 1_17420398_C->G 1 17420398 17420398 C G snp 107.77 0/1 99 7 3 4 0.57 intronic rs2235920 PADI2 AU NM_007365 exon12 c.24641+219C>G 0.388179 0.3889 Uncertain 1_17422192_G->A 1 17422192 17422192 G A snp 141.77 0/1 99 14 9 5 0.36 intronic rs2076610 PADI2 AU NM_007365 exon13 c.26865-211G>A 0.563299 0.4196 Uncertain 1_17422226_C->T 1 17422226 17422226 C T snp 422.77 0/1 99 42 26 16 0.38 intronic rs2076609 PADI2 AU NM_007365 exon13 c.26865-177C>T 0.49401 0.4196 Uncertain 1_17422302_T->C 1 17422302 17422302 T C snp 2063.77 0/1 99 164 81 83 0.51 intronic rs2076608 PADI2 AU NM_007365 exon13 c.26865-101T>C 0.563099 0.4196 Uncertain 1_17422610_A->G 1 17422610 17422610 A G snp 179.77 0/1 99 13 7 6 0.46 intronic rs2235918 PADI2 AU NM_007365 exon13 c.26927+145A>G 0.493211 0.4196 Uncertain 1_17431618_A->G 1 17431618 17431618 A G snp 771.77 0/1 99 50 21 29 0.58 intronic rs11203300 PADI2 AU NM_007365 exon15 c.36018+62A>G 0.696685 0.8373 Uncertain 1_17431681_C->A 1 17431681 17431681 C A snp 121.77 0/1 99 10 5 5 0.5 intronic rs2647172 PADI2 AU NM_007365 exon15 c.36018+125C>A 0.73762 0.8363 Uncertain 1_17550121_G->A 1 17550121 17550121 G A snp 681.77 0/1 99 62 35 27 0.44 exonic rs2293912 PADI1 AU synonymous SNV NM_013358 exon3 c.G279A p.R93R 0.146765 0.1567 0.124173 0.1662 0.1437 Uncertain 1_17550225_T->C 1 17550225 17550225 T C snp 2876.77 1/1 99 110 0 110 1.0 intronic rs3003481 PADI1 AU NM_013358 exon3 c.18476+37T>C 0.996805 1 0.997770 0.9994 1 Uncertain 1_17550314_G->A 1 17550314 17550314 G A snp 847.77 0/1 99 73 35 38 0.52 intronic rs2293914 PADI1 AU NM_013358 exon3 c.18476+126G>A 0.160543 0.1974 Uncertain 1_17557039_T->C 1 17557039 17557039 T C snp 2251.77 1/1 99 70 0 70 1.0 intronic rs10888010 PADI1 AU NM_013358 exon10 c.25354-27T>C 0.480232 0.4504 0.468092 0.4694 0.4720 Uncertain 1_17557133_A->C 1 17557133 17557133 A C snp 5308.77 1/1 99 195 0 195 1.0 exonic rs3003406 PADI1 AU synonymous SNV NM_013358 exon10 c.A1120C p.R374R 0.407947 0.372 0.412502 0.4193 0.3643 Uncertain 1_17557178_C->T 1 17557178 17557178 C T snp 5366.77 1/1 99 199 0 199 1.0 splicing rs2977235 PADI1 AU NM_013358 exon10 c.25462+4C>T 0.358427 0.3036 0.329925 0.3562 0.3222 Pathogenic 1_17557310_G->A 1 17557310 17557310 G A snp 1159.77 1/1 84 31 0 31 1.0 intronic rs3003407 PADI1 AU NM_013358 exon10 c.25462+136G>A 0.461062 0.374 Uncertain 1_17563967_T->C 1 17563967 17563967 T C snp 4515.77 1/1 99 169 0 169 1.0 intronic rs2977306 PADI1 AU NM_013358 exon12 c.32241+14T>C 0.484026 0.4355 0.454944 0.4396 0.4119 Uncertain 1_17564990_T->C 1 17564990 17564990 T C snp 303.78 1/1 24 9 0 9 1.0 intronic rs2977310 PADI1 AU NM_013358 exon13 c.33398-120T>C 0.533347 0.4474 Uncertain 1_17570466_T->C 1 17570466 17570466 T C snp 3993.77 1/1 99 138 0 138 1.0 intronic rs2293921 PADI1 AU NM_013358 exon16 c.38792-38T>C 0.512181 0.4425 0.492617 0.4834 0.4428 Uncertain 1_17593144_C->G 1 17593144 17593144 C G snp 699.77 0/1 99 64 34 30 0.47 intronic rs2272628 PADI3 AU NM_016233 exon5 c.17581-69C>G 0.527756 0.4405 Uncertain 1_17597314_-->C 1 17597314 17597314 - C indel 589.73 0/1 99 40 18 22 0.55 intronic rs3215408 PADI3 AU NM_016233 exon8 c.21741-59insC 0.23123 0.1845 Uncertain 1_17609448_G->T 1 17609448 17609448 G T snp 4972.77 1/1 99 176 0 176 1.0 exonic rs2293920 PADI3 AU synonymous SNV NM_016233 exon16 c.G1869T p.P623P 0.404952 0.623 0.370983 0.4399 0.6425 Uncertain 1_17657534_G->A 1 17657534 17657534 G A snp 2921.77 0/1 99 205 77 128 0.62 exonic rs11203366 PADI4 AU nonsynonymous SNV NM_012387 exon2 c.G163A p.G55S 0.524561 0.5635 0.545364 0.5612 0.5836 1 T 0.0 P -0.912 T 0.0 T 0.001 T Pathogenic 1_17657616_T->C 1 17657616 17657616 T C snp 2622.77 0/1 99 161 55 106 0.66 exonic rs11203367 PADI4 AU nonsynonymous SNV NM_012387 exon2 c.T245C p.V82A 0.533347 0.5635 0.553514 0.5641 0.5837 1 T 0.0 P -0.959 T 0.0 T 0.0 T Pathogenic 1_17660499_G->C 1 17660499 17660499 G C snp 771.77 0/1 99 80 46 34 0.42 exonic rs874881 PADI4 AU nonsynonymous SNV NM_012387 exon3 c.G335C p.G112A 0.521965 0.5585 0.529064 0.5462 0.5812 0.66 T 0.710 P -1.027 T 0.639 T 0.19 P ID=CM1211521;DIS=Rheumatoid arthritis, association with;TAG=DP;PUB=22505706 DP Pathogenic 1_17660660_G->A 1 17660660 17660660 G A snp 218.77 0/1 99 17 9 8 0.47 intronic rs874882 PADI4 AU NM_012387 exon3 c.25787+156G>A 0.52476 0.5605 Uncertain 1_17660697_T->C 1 17660697 17660697 T C snp 46.77 0/1 72 5 2 3 0.6 intronic rs1548323 PADI4 AU NM_012387 exon3 c.25787+193T>C 0.528355 0.5605 Uncertain 1_17661128_A->C 1 17661128 17661128 A C snp 310.77 0/1 99 24 11 13 0.54 intronic rs1555658 PADI4 AU NM_012387 exon3 c.25787+624A>C 0.595048 0.6141 0.6245 0.7188 Uncertain 1_17661805_A->G 1 17661805 17661805 A G snp 551.77 0/1 99 42 15 27 0.64 intronic rs1635594 PADI4 AU NM_012387 exon4 c.27936-848A>G 0.629593 0.6141 Uncertain 1_17662541_A->C 1 17662541 17662541 A C snp 108.77 0/1 99 9 5 4 0.44 intronic rs1748034 PADI4 AU NM_012387 exon4 c.27936-112A>C 0.610423 0.6141 Uncertain 1_17662639_T->C 1 17662639 17662639 T C snp 1157.77 0/1 99 99 47 52 0.53 intronic rs2240340 PADI4 AU NM_012387 exon4 c.27936-14T>C 0.515176 0.5605 0.539751 0.5619 0.5824 Uncertain 1_17662662_T->C 1 17662662 17662662 T C snp 1387.77 0/1 99 118 59 59 0.5 exonic rs1748033 PADI4 AU synonymous SNV NM_012387 exon4 c.T349C p.L117L 0.591853 0.6151 0.636245 0.6373 0.6332 Uncertain 1_17662751_C->G 1 17662751 17662751 C G snp 1248.77 0/1 99 111 54 57 0.51 intronic rs1621005 PADI4 AU NM_012387 exon4 c.28004+30C>G 0.604433 0.6141 0.644779 0.6407 0.6341 Uncertain 1_17662804_C->T 1 17662804 17662804 C T snp 811.77 0/1 99 69 33 36 0.52 intronic rs1748032 PADI4 AU NM_012387 exon4 c.28004+83C>T 0.603634 0.6131 Uncertain 1_17662907_A->T 1 17662907 17662907 A T snp 149.77 0/1 99 14 8 6 0.43 intronic rs1748031 PADI4 AU NM_012387 exon4 c.28004+186A>T 0.608826 0.6141 Uncertain 1_17664770_A->G 1 17664770 17664770 A G snp 203.77 0/1 99 21 14 7 0.33 intronic rs1635586 PADI4 AU NM_012387 exon5 c.29933+120A>G 0.601837 0.6141 Uncertain 1_17664813_T->G 1 17664813 17664813 T G snp 46.77 0/1 33 3 1 2 0.67 intronic rs1635585 PADI4 AU NM_012387 exon5 c.29933+163T>G 0.601637 0.6141 Uncertain 1_17666095_T->C 1 17666095 17666095 T C snp 395.77 0/1 99 26 14 12 0.46 intronic rs1635578 PADI4 AU NM_012387 exon6 c.31465-87T>C 0.596246 0.6131 Uncertain 1_17666508_C->T 1 17666508 17666508 C T snp 40.77 0/1 69 5 3 2 0.4 intronic rs11203368 PADI4 AU NM_012387 exon6 c.31591+200C>T 0.53734 0.5575 Uncertain 1_17668270_A->G 1 17668270 17668270 A G snp 74.77 0/1 99 8 5 3 0.38 intronic rs1748021 PADI4 AU NM_012387 exon7 c.33720-167A>G 0.636781 0.619 Uncertain 1_17672730_G->A 1 17672730 17672730 G A snp 86.77 0/1 33 5 2 3 0.6 intronic rs2301888 PADI4 AU NM_012387 exon9 c.37917+96G>A 0.363019 0.5546 Uncertain 1_17674402_C->T 1 17674402 17674402 C T snp 1463.77 0/1 99 111 53 58 0.52 intronic rs2240336 PADI4 AU NM_012387 exon10 c.39718-33C>T 0.499401 0.6151 0.443103 0.4542 0.6360 Uncertain 1_17674537_C->A 1 17674537 17674537 C A snp 3381.77 0/1 99 250 112 138 0.55 exonic rs2240335 PADI4 AU synonymous SNV NM_012387 exon10 c.C1149A p.R383R 0.421326 0.5635 0.358373 0.3895 0.5867 Uncertain 1_17681277_T->C 1 17681277 17681277 T C snp 514.77 1/1 39 16 0 16 1.0 intronic rs6683201 PADI4 AU NM_012387 exon11 c.46465+95T>C 0.775359 0.7669 Uncertain 1_17683041_T->C 1 17683041 17683041 T C snp 4144.77 1/1 99 150 0 150 1.0 intronic rs1635567 PADI4 AU NM_012387 exon13 c.48237+87T>C 0.752995 0.7917 Uncertain 1_17683157_A->G 1 17683157 17683157 A G snp 260.8 1/1 21 7 0 7 1.0 intronic rs1635566 PADI4 AU NM_012387 exon13 c.48237+203A>G 0.715855 0.7887 Uncertain 1_17685174_T->C 1 17685174 17685174 T C snp 1149.77 1/1 84 40 0 40 1.0 intronic rs2428735 PADI4 AU NM_012387 exon14 c.50615-158T>C 0.759784 0.7907 Uncertain 1_17685466_C->A 1 17685466 17685466 C A snp 452.77 0/1 99 60 36 24 0.4 intronic rs34481461 PADI4 AU NM_012387 exon14 c.50686+63C>A 0.148562 0.2629 0.149365 Uncertain 1_17689954_C->T 1 17689954 17689954 C T snp 63.77 0/1 92 8 5 3 0.38 intronic rs2477150 PADI4 AU NM_012387 exon16 c.55299-62C>T 0.220447 0.3036 Uncertain 1_17698725_C->T 1 17698725 17698725 C T snp 1348.77 0/1 99 102 40 62 0.61 UTR5 rs1204873 PADI6 AU 0.261382 0.3085 0.255521 0.2228 0.2951 Uncertain 1_17698891_C->T 1 17698891 17698891 C T snp 1098.77 0/1 99 108 58 50 0.46 intronic rs6700319 PADI6 AU NM_207421 exon1 c.116+35C>T 0.197484 0.2698 0.181963 0.1809 0.2611 Uncertain 1_17698961_T->C 1 17698961 17698961 T C snp 435.77 0/1 99 36 19 17 0.47 intronic rs1204872 PADI6 AU NM_207421 exon1 c.116+105T>C 0.261581 0.3065 Uncertain 1_17699017_A->G 1 17699017 17699017 A G snp 284.84 0/1 18 12 3 9 0.75 intronic rs6656582 PADI6 AU NM_207421 exon1 c.116+161A>G 0.204073 0.2698 Uncertain 1_17699385_G->A 1 17699385 17699385 G A snp 108.77 0/1 99 10 6 4 0.4 intronic rs74549349 PADI6 AU NM_207421 exon2 c.810-165G>A 0.16893 0.2341 Uncertain 1_17699463_C->T 1 17699463 17699463 C T snp 1059.77 0/1 99 86 44 42 0.49 intronic rs1204869 PADI6 AU NM_207421 exon2 c.810-87C>T 0.26258 0.3065 Uncertain 1_17699509_-->GTGA 1 17699509 17699509 - GTGA indel 4770.73 0/1 99 155 79 76 0.49 intronic rs2308230 PADI6 AU NM_207421 exon2 c.810-41insGTGA 0.261981 0.3065 0.252596 0.2241 0.2938 Uncertain 1_17707601_T->C 1 17707601 17707601 T C snp 550.77 0/1 99 80 54 26 0.33 exonic rs6669650 PADI6 AU synonymous SNV NM_207421 exon5 c.T495C p.P165P 0.162141 0.2788 0.140697 0.2033 0.3175 Uncertain 1_17707739_T->C 1 17707739 17707739 T C snp 273.77 0/1 99 45 30 15 0.33 intronic rs1204898 PADI6 AU NM_207421 exon5 c.8919+80T>C 0.720248 0.8155 Uncertain 1_17707757_C->T 1 17707757 17707757 C T snp 237.77 0/1 99 36 22 14 0.39 intronic rs6664321 PADI6 AU NM_207421 exon5 c.8919+98C>T 0.230831 0.2867 Uncertain 1_17707758_G->C 1 17707758 17707758 G C snp 250.77 0/1 99 36 22 14 0.39 intronic rs6703392 PADI6 AU NM_207421 exon5 c.8919+99G>C 0.254992 0.2867 Uncertain 1_17707798_C->T 1 17707798 17707798 C T snp 184.77 0/1 99 19 10 9 0.47 intronic rs10788668 PADI6 AU NM_207421 exon5 c.8919+139C>T 0.661941 0.5923 Uncertain 1_17714864_T->C 1 17714864 17714864 T C snp 454.77 0/1 99 61 39 22 0.36 intronic rs6696295 PADI6 AU NM_207421 exon7 c.16135-11T>C 0.232827 0.3175 0.213298 0.2646 0.3327 Uncertain 1_17715081_C->T 1 17715081 17715081 C T snp 615.77 0/1 99 62 35 27 0.44 intronic rs2526842 PADI6 AU NM_207421 exon7 c.16314+27C>T 0.321086 0.3571 0.303982 0.3139 0.3735 Uncertain 1_17715135_T->C 1 17715135 17715135 T C snp 178.77 0/1 99 30 23 7 0.23 intronic rs2526841 PADI6 AU NM_207421 exon7 c.16314+81T>C 0.321086 0.3571 Uncertain 1_17715475_T->C 1 17715475 17715475 T C snp 250.8 0/1 21 12 2 10 0.83 intronic rs2800688 PADI6 AU NM_207421 exon8 c.16635+100T>C 0.321885 0.3571 Uncertain 1_17718672_G->- 1 17718672 17718672 G - indel 3081.73 1/1 99 79 0 79 1.0 splicing rs10709483 PADI6 AU NM_207421 exon10 c.19932delG 1 1 0.999577 1 1 Pathogenic 1_17718750_C->T 1 17718750 17718750 C T snp 430.77 0/1 99 48 25 23 0.48 intronic rs12737852 PADI6 AU NM_207421 exon10 c.19981+29C>T 0.27476 0.3542 0.245670 0.2796 0.3696 Uncertain 1_17720439_T->C 1 17720439 17720439 T C snp 1023.77 0/1 99 102 54 48 0.47 intronic rs6695849 PADI6 AU NM_207421 exon11 c.21730-31T>C 0.570887 0.5268 0.610602 0.6244 0.5180 Uncertain 1_17720615_A->C 1 17720615 17720615 A C snp 1344.77 0/1 99 119 63 56 0.47 intronic rs10458537 PADI6 AU NM_207421 exon11 c.21838+37A>C 0.572085 0.5268 0.614413 0.6260 0.5169 Uncertain 1_17720687_G->- 1 17720687 17720687 G - indel 1702.73 0/1 99 134 70 64 0.48 intronic rs34075690 PADI6 AU NM_207421 exon12 c.22055-108delG 0.588658 0.5258 Uncertain 1_17721388_C->T 1 17721388 17721388 C T snp 49.77 0/1 33 4 1 3 0.75 intronic rs6691485 PADI6 AU NM_207421 exon13 c.22706-58C>T 0.571286 0.5268 Uncertain 1_17721707_T->G 1 17721707 17721707 T G snp 99.28 1/1 9 4 0 4 1.0 intronic rs12239645 PADI6 AU NM_207421 exon13 c.22863+104T>G 0.31869 0.4087 Uncertain 1_17725358_C->G 1 17725358 17725358 C G snp 1700.77 0/1 99 183 106 77 0.42 intronic rs2244936 PADI6 AU NM_207421 exon16 c.26603+15C>G 0.6248 0.5377 0.660870 0.6384 0.5278 Uncertain 1_17738571_C->- 1 17738571 17738571 C - indel 2848.73 0/1 99 159 73 86 0.54 intronic rs397979380 RCC2 AU NM_001136204 exon3 c.3032-46delC 0.244808 0.3819 0.240217 0.2642 0.3688 Uncertain 1_17739820_T->C 1 17739820 17739820 T C snp 806.77 0/1 99 54 21 33 0.61 intronic rs1075535 RCC2 AU NM_001136204 exon4 c.4089+146T>C 0.638179 0.5476 Uncertain 1_17740357_G->A 1 17740357 17740357 G A snp 77.77 0/1 96 7 4 3 0.43 intronic rs2003871 RCC2 AU NM_001136204 exon5 c.4628+144G>A 0.286941 0.3819 Uncertain 1_17907108_T->G 1 17907108 17907108 T G snp 929.77 0/1 99 86 45 41 0.48 exonic rs35812446 ARHGEF10L AU synonymous SNV NM_001011722 exon1 c.T18G p.P6P 0.0227636 0.0685 0.016838 0.0254 0.0922 Uncertain 1_17914846_C->T 1 17914846 17914846 C T snp 349.77 0/1 99 39 22 17 0.44 intronic rs1193343 ARHGEF10L AU NM_018125 exon4 c.7850-94C>T 0.732228 0.6548 Uncertain 1_17929980_C->G 1 17929980 17929980 C G snp 3123.77 1/1 99 118 1 117 0.99 intronic rs1193338 ARHGEF10L AU NM_018125 exon6 c.22912-22C>G 0.461262 0.6448 0.460249 0.5129 0.6378 Uncertain 1_17960812_T->C 1 17960812 17960812 T C snp 373.77 1/1 30 10 0 10 1.0 intronic rs2354289 ARHGEF10L AU NM_018125 exon17 c.53952-230T>C 0.997404 1 Uncertain 1_17991052_T->C 1 17991052 17991052 T C snp 2787.77 1/1 99 107 0 107 1.0 exonic rs6695710 ARHGEF10L AU nonsynonymous SNV NM_001011722 exon24 c.T2854C p.W952R 0.9998 1 0.999769 1.0000 1 0.89 T 0.000 P -0.995 T 0.0 T 0.0 T Pathogenic 1_18017522_T->C 1 18017522 18017522 T C snp 4230.77 1/1 99 157 2 155 0.99 intronic rs871087 ARHGEF10L AU NM_018125 exon27 c.107152+3280T>C 0.88119 0.9067 Uncertain 1_18017558_A->G 1 18017558 18017558 A G snp 5871.77 1/1 99 224 0 224 1.0 intronic rs871088 ARHGEF10L AU NM_018125 exon27 c.107152+3316A>G 0.880791 0.9077 Uncertain 1_18017704_C->T 1 18017704 18017704 C T snp 3905.77 1/1 99 142 0 142 1.0 intronic rs871089 ARHGEF10L AU NM_018125 exon27 c.107152+3462C>T 0.880391 0.9067 Uncertain 1_18021406_T->C 1 18021406 18021406 T C snp 3794.77 1/1 99 137 0 137 1.0 intronic rs905389 ARHGEF10L AU NM_018125 exon28 c.114562-246T>C 0.821685 0.9077 0.8661 0.8960 Uncertain 1_18021867_T->C 1 18021867 18021867 T C snp 135.03 1/1 12 4 0 4 1.0 intronic rs2279816 ARHGEF10L AU NM_018125 exon28 c.114685+92T>C 0.824281 0.9077 Uncertain 1_18023154_A->G 1 18023154 18023154 A G snp 50.74 1/1 6 2 0 2 1.0 intronic rs4920620 ARHGEF10L AU NM_018125 exon29 c.116252-188A>G 0.826677 0.8988 Uncertain 1_18023290_C->T 1 18023290 18023290 C T snp 2675.77 1/1 99 101 0 101 1.0 intronic rs2270979 ARHGEF10L AU NM_018125 exon29 c.116252-52C>T 0.785743 0.8363 Uncertain 1_18023365_C->T 1 18023365 18023365 C T snp 4306.77 1/1 99 160 1 159 0.99 exonic rs2270978 ARHGEF10L AU synonymous SNV NM_001011722 exon27 c.C3213T p.N1071N 0.784744 0.8363 0.764801 0.8169 0.8160 Uncertain 1_18023509_T->C 1 18023509 18023509 T C snp 2673.77 1/1 99 87 0 87 1.0 exonic rs2270977 ARHGEF10L AU synonymous SNV NM_001011722 exon27 c.T3357C p.D1119D 0.834665 0.8988 0.806203 0.8351 0.8931 Uncertain 1_18023690_A->G 1 18023690 18023690 A G snp 3084.77 1/1 99 107 0 107 1.0 exonic rs2270976 ARHGEF10L AU nonsynonymous SNV NM_001011722 exon27 c.A3538G p.I1180V 0.822684 0.8988 0.795131 0.8355 0.8953 1 T 0.0 P -0.952 T 0.0 T 0.001 T Pathogenic 1_18023997_-->C 1 18023997 18023997 - C indel 217.8 1/1 18 6 0 6 1.0 UTR3 rs3835471 ARHGEF10L AU 0.786142 0.8363 Uncertain 1_18149510_G->T 1 18149510 18149510 G T snp 1879.77 0/1 99 158 79 79 0.5 exonic rs694214 ACTL8 AU nonsynonymous SNV NM_030812 exon2 c.G7T p.A3S 0.305711 0.4315 0.347609 0.3921 0.4187 0 D 0.0 P -1.017 T 0.004 T 0.008 T Pathogenic 1_18149566_C->A 1 18149566 18149566 C A snp 2910.77 0/1 99 250 130 120 0.48 exonic rs2296035 ACTL8 AU synonymous SNV NM_030812 exon2 c.C63A p.G21G 0.482827 0.6865 0.421959 0.4969 0.6575 Uncertain 1_18554345_T->C 1 18554345 18554345 T C snp 1727.77 0/1 99 139 71 68 0.49 intronic rs61762155 IGSF21 AU NM_032880 exon2 c.119769-46T>C 0.183906 0.1756 0.209134 0.2481 0.1705 Uncertain 1_18554356_C->T 1 18554356 18554356 C T snp 2033.77 0/1 99 162 78 84 0.52 intronic rs3738087 IGSF21 AU NM_032880 exon2 c.119769-35C>T 0.183706 0.1756 0.213978 0.2484 0.1704 Uncertain 1_18554670_G->T 1 18554670 18554670 G T snp 255.77 0/1 99 17 9 8 0.47 intronic rs3738088 IGSF21 AU NM_032880 exon2 c.119882+166G>T 0.0413339 0.125 Uncertain 1_18661583_T->C 1 18661583 18661583 T C snp 1229.77 0/1 99 104 53 51 0.49 intronic rs536540 IGSF21 AU NM_032880 exon4 c.226882+79T>C 0.38099 0.3502 Uncertain 1_18691614_T->C 1 18691614 18691614 T C snp 500.77 0/1 99 58 39 19 0.33 intronic rs12079178 IGSF21 AU NM_032880 exon6 c.257094-102T>C 0.167332 0.2073 Uncertain 1_18691665_G->T 1 18691665 18691665 G T snp 1251.77 0/1 99 134 80 54 0.4 intronic rs41300138 IGSF21 AU NM_032880 exon6 c.257094-51G>T 0.144369 0.2063 0.109173 Uncertain 1_18702988_T->C 1 18702988 18702988 T C snp 508.77 1/1 39 15 0 15 1.0 intronic rs10796450 IGSF21 AU NM_032880 exon7 c.268267+99T>C 0.990815 0.999 Uncertain 1_18703208_C->G 1 18703208 18703208 C G snp 225.84 1/1 18 7 0 7 1.0 intronic rs10796451 IGSF21 AU NM_032880 exon8 c.268671-85C>G 0.739617 0.7292 Uncertain 1_18703544_G->A 1 18703544 18703544 G A snp 2245.77 0/1 99 206 105 101 0.49 intronic rs10465915 IGSF21 AU NM_032880 exon8 c.268864+58G>A 0.198083 0.3125 Uncertain 1_18703672_G->A 1 18703672 18703672 G A snp 52.74 1/1 6 2 0 2 1.0 intronic rs2271861 IGSF21 AU NM_032880 exon8 c.268864+186G>A 0.13099 0.1974 Uncertain 1_18704862_A->G 1 18704862 18704862 A G snp 1420.77 0/1 99 145 80 65 0.45 UTR3 rs1043459 IGSF21 AU 0.604233 0.6052 0.518145 0.5053 0.6415 Uncertain 1_18807897_C->G 1 18807897 18807897 C G snp 2575.77 0/1 99 195 99 96 0.49 exonic rs2992755 KLHDC7A AU nonsynonymous SNV NM_152375 exon1 c.C422G p.P141R 0.646965 0.8958 0.621324 0.6493 0.8993 0.39 T 0.0 P -1.015 T 0.0 T 0.0 T Pathogenic 1_18807938_C->A 1 18807938 18807938 C A snp 3286.77 0/1 99 250 121 129 0.52 exonic rs2992754 KLHDC7A AU nonsynonymous SNV NM_152375 exon1 c.C463A p.P155T 0.266773 0.623 0.159380 0.2014 0.6250 0.47 T 0.0 P -0.985 T 0.845 T 0.421 P Pathogenic 1_18808292_C->A 1 18808292 18808292 C A snp 3160.77 0/1 99 248 112 136 0.55 exonic rs2992753 KLHDC7A AU nonsynonymous SNV NM_152375 exon1 c.C817A p.H273N 0.672923 0.8958 0.641012 0.6539 0.8996 1 T 0.0 P -0.948 T 0.0 T 0.0 T Pathogenic 1_18808465_T->A 1 18808465 18808465 T A snp 1509.77 0/1 99 126 64 62 0.49 exonic rs3007718 KLHDC7A AU synonymous SNV NM_152375 exon1 c.T990A p.A330A 0.672724 0.8948 0.640333 0.6557 0.8988 Uncertain 1_18808526_A->C 1 18808526 18808526 A C snp 1493.77 0/1 99 112 47 65 0.58 exonic rs2992752 KLHDC7A AU nonsynonymous SNV NM_152375 exon1 c.A1051C p.T351P 0.672724 0.8948 0.641001 0.6552 0.8983 1 T 0.0 P -0.969 T 0.0 T 0.0 T Pathogenic 1_18808711_G->C 1 18808711 18808711 G C snp 1616.77 0/1 99 106 48 58 0.55 exonic rs2992751 KLHDC7A AU synonymous SNV NM_152375 exon1 c.G1236C p.G412G 0.263778 0.625 0.145779 0.1906 0.6259 Uncertain 1_18809896_A->T 1 18809896 18809896 A T snp 403.77 0/1 99 28 14 14 0.5 UTR3 rs2992745 KLHDC7A AU 0.642772 0.8958 Uncertain 1_18810344_G->T 1 18810344 18810344 G T snp 996.77 0/1 99 68 31 37 0.54 UTR3 rs2992740 KLHDC7A AU 0.621206 0.8958 Uncertain 1_18810484_G->A 1 18810484 18810484 G A snp 2202.77 0/1 99 214 114 100 0.47 UTR3 rs1889861 KLHDC7A AU 0.260982 0.6032 0.1647 0.6136 Uncertain 1_18810486_A->C 1 18810486 18810486 A C snp 2262.77 0/1 99 215 115 100 0.47 UTR3 rs1889862 KLHDC7A AU 0.316094 0.7083 0.1911 0.7146 Uncertain 1_18961088_G->T 1 18961088 18961088 G T snp 1264.77 0/1 99 98 45 53 0.54 intronic rs183073774 PAX7 AR NM_002584 exon2 c.2935+56G>T 0.00199681 0.0099 Uncertain 1_19027239_A->G 1 19027239 19027239 A G snp 2474.77 1/1 99 91 0 91 1.0 exonic rs2743201 PAX7 AR synonymous SNV NM_002584 exon6 c.A879G p.P293P 0.488618 0.6042 0.372059 0.3747 0.6047 Uncertain 1_19029546_A->G 1 19029546 19029546 A G snp 477.77 1/1 36 14 0 14 1.0 intronic rs1416464 PAX7 AR NM_002584 exon7 c.71490-41A>G 0.489816 0.6071 0.352831 0.3694 0.6029 Uncertain 1_19071153_C->T 1 19071153 19071153 C T snp 49.77 0/1 78 12 9 3 0.25 intergenic PAX7 AR Uncertain 1_19071182_A->G 1 19071182 19071182 A G snp 280.77 0/1 99 27 17 10 0.37 intergenic rs3915506 PAX7 AR Uncertain 1_19071183_A->G 1 19071183 19071183 A G snp 285.77 0/1 99 27 17 10 0.37 intergenic rs3915505 PAX7 AR 0.558506 0.494 Uncertain 1_19071184_ATGGATGG->- 1 19071184 19071191 ATGGATGG - indel 1503.73 ./1 99 27 1 26 0.96 intergenic rs201043748 PAX7 AR Uncertain 1_19071184_ATGG->- 1 19071184 19071187 ATGG - indel 1503.73 ./1 99 27 1 26 0.96 intergenic PAX7 AR Uncertain 1_19071393_C->A 1 19071393 19071393 C A snp 1824.77 0/1 99 155 77 78 0.5 intergenic rs575465655 PAX7 AR 0.000399361 0.002 Uncertain 1_19166294_G->A 1 19166294 19166294 G A snp 4164.77 1/1 99 134 0 134 1.0 exonic rs12033832 TAS1R2 AU synonymous SNV NM_152232 exon6 c.C2319T p.S773S 0.299521 0.4583 0.303860 0.3122 0.4544 Uncertain 1_19181014_C->G 1 19181014 19181014 C G snp 2362.77 0/1 99 183 91 92 0.5 exonic rs34545913 TAS1R2 AU nonsynonymous SNV NM_152232 exon3 c.G950C p.R317P 0.013778 0.0625 0.0053 0.0622 0.41 T 1 N -0.664 T 0.794 T 0.53 P Pathogenic 1_19181015_G->C 1 19181015 19181015 G C snp 2429.77 0/1 99 182 91 91 0.5 exonic rs34447754 TAS1R2 AU nonsynonymous SNV NM_152232 exon3 c.C949G p.R317G 0.238219 0.1032 0.299216 0.2886 0.1111 0.63 T 0.0 P -1.097 T 0.002 T 0.005 T Pathogenic 1_19181082_A->C 1 19181082 19181082 A C snp 2923.77 0/1 99 209 91 118 0.56 exonic rs28470550 TAS1R2 AU synonymous SNV NM_152232 exon3 c.T882G p.T294T 0.238818 0.1032 0.300323 0.2893 0.1113 Uncertain 1_19181393_T->C 1 19181393 19181393 T C snp 3213.77 0/1 99 249 117 132 0.53 exonic rs35874116 TAS1R2 AU nonsynonymous SNV NM_152232 exon3 c.A571G p.I191V 0.266973 0.1042 0.322467 0.3006 0.1122 1 T 0.0 P -1.063 T 0.0 T 0.002 T ID=CM109811;DIS=Reduced sugar consumption in obesity, association;TAG=DP;PUB=20943793 DP Pathogenic 1_19184077_A->G 1 19184077 19184077 A G snp 2428.77 0/1 99 249 137 112 0.45 exonic rs68081213 TAS1R2 AU synonymous SNV NM_152232 exon2 c.T231C p.F77F 0.275759 0.1052 0.333538 0.3036 0.1123 Uncertain 1_19184176_G->A 1 19184176 19184176 G A snp 1145.77 0/1 99 97 54 43 0.44 intronic rs72953138 TAS1R2 AU NM_152232 exon5 c.18033+51G>A 0.188698 0.0694 0.252653 0.2086 0.0654 Uncertain 1_19186129_G->C 1 19186129 19186129 G C snp 4468.77 1/1 99 167 1 166 0.99 exonic rs9701796 TAS1R2 AU nonsynonymous SNV NM_152232 exon1 c.C26G p.S9C 0.797923 0.7748 0.792557 0.7804 0.7517 1 T 0.0 P -0.963 T 0.0 T 0.0 T Pathogenic 1_19186260_C->T 1 19186260 19186260 C T snp 460.77 0/1 99 31 14 17 0.55 upstream rs9700646 TAS1R2 AU 0.582668 0.7014 Uncertain 1_19186320_G->C 1 19186320 19186320 G C snp 269.8 1/1 21 9 0 9 1.0 upstream rs9701803 TAS1R2 AU 0.785743 0.7798 Uncertain 1_19202770_T->C 1 19202770 19202770 T C snp 3040.77 1/1 99 108 0 108 1.0 intronic rs7550822 ALDH4A1 AR NM_003748 exon4 c.3470-38T>C 0.919529 1 0.913578 0.9615 1 Uncertain 1_19203997_C->G 1 19203997 19203997 C G snp 821.77 0/1 99 89 46 43 0.48 exonic rs2230705 ALDH4A1 AR synonymous SNV NM_003748 exon10 c.G1050C p.A350A 0.641573 0.4683 0.711538 0.7072 0.5004 Uncertain 1_19204154_G->A 1 19204154 19204154 G A snp 517.77 1/1 39 20 0 20 1.0 intronic rs6426813 ALDH4A1 AR NM_003748 exon6 c.4768+48G>A 0.810903 0.9583 0.726323 0.7719 0.9580 Uncertain 1_19204173_A->G 1 19204173 19204173 A G snp 489.77 1/1 39 15 0 15 1.0 intronic rs6426814 ALDH4A1 AR NM_003748 exon6 c.4768+67A>G 0.828874 0.8621 Uncertain 1_19208145_-->GGTTGCCT 1 19208145 19208145 - GGTTGCCT indel 10050.7 1/1 99 90 0 90 1.0 intronic rs112548638 ALDH4A1 AR NM_003748 exon8 c.8855-48insGGTTGCCT 0.983027 1 0.972369 0.9946 1 Uncertain 1_19208944_A->G 1 19208944 19208944 A G snp 875.77 1/1 66 25 0 25 1.0 intronic rs28566028 ALDH4A1 AR NM_003748 exon8 c.9043+563A>G 0.960463 0.9643 Uncertain 1_19209543_A->G 1 19209543 19209543 A G snp 1924.77 1/1 99 67 0 67 1.0 intronic rs6426611 ALDH4A1 AR NM_003748 exon9 c.10279-74A>G 0.968051 1 Uncertain 1_19215834_T->C 1 19215834 19215834 T C snp 5923.77 1/1 99 209 0 209 1.0 intronic rs941495 ALDH4A1 AR NM_003748 exon13 c.16517-21T>C 0.984425 1 0.972335 0.9742 1 Uncertain 1_19243589_A->G 1 19243589 19243589 A G snp 1338.77 0/1 99 94 41 53 0.56 intronic rs3748586 IFFO2 AU NM_001136265 exon5 c.8482+53A>G 0.434704 0.2728 Uncertain 1_19243651_G->A 1 19243651 19243651 G A snp 314.77 0/1 99 27 17 10 0.37 intronic rs78284463 IFFO2 AU NM_001136265 exon5 c.8482+115G>A 0.0479233 0.1022 Uncertain 1_19282981_A->C 1 19282981 19282981 A C snp 299.78 1/1 24 9 0 9 1.0 upstream rs1886768 IFFO2 AU 0.994409 1 Uncertain 1_19401405_G->A 1 19401405 19401405 G A snp 2265.77 0/1 99 238 139 99 0.42 intronic rs2281748 UBR4 AU NM_020765 exon1 c.65+15G>A 0.387181 0.6101 0.335384 0.4093 0.5918 Uncertain 1_19401445_C->T 1 19401445 19401445 C T snp 2925.77 0/1 99 216 89 127 0.59 intronic rs41273185 UBR4 AU NM_020765 exon1 c.65+55C>T 0.0439297 0.0397 0.043145 Uncertain 1_19401542_A->T 1 19401542 19401542 A T snp 572.77 0/1 99 47 24 23 0.49 intronic rs16862503 UBR4 AU NM_020765 exon1 c.65+152A>T 0.0439297 0.0397 Uncertain 1_19410913_G->A 1 19410913 19410913 G A snp 361.77 0/1 99 21 9 12 0.57 intronic rs79727477 UBR4 AU NM_020765 exon5 c.9672-84G>A 0.0245607 0.0407 Uncertain 1_19411129_A->G 1 19411129 19411129 A G snp 3563.77 1/1 99 129 0 129 1.0 exonic rs1043905 UBR4 AU synonymous SNV NM_020765 exon102 c.T14877C p.H4959H 0.71885 0.8105 0.671459 0.6447 0.8122 Uncertain 1_19412464_C->T 1 19412464 19412464 C T snp 156.77 0/1 99 8 3 5 0.63 intronic rs2274009 UBR4 AU NM_020765 exon6 c.11313-174C>T 0.601038 0.7589 Uncertain 1_19413261_T->A 1 19413261 19413261 T A snp 1320.77 0/1 99 120 62 58 0.48 exonic rs12584 UBR4 AU nonsynonymous SNV NM_020765 exon100 c.A14599T p.M4867L 0.601438 0.7589 0.559895 0.5830 0.7618 0.41 T 0.249 P -1.040 T 0.0 T 0.0 T Pathogenic 1_19413420_T->G 1 19413420 19413420 T G snp 855.77 1/1 63 26 0 26 1.0 intronic rs2274008 UBR4 AU NM_020765 exon7 c.11990+105T>G 0.718251 0.8105 Uncertain 1_19415304_C->T 1 19415304 19415304 C T snp 890.77 0/1 99 75 36 39 0.52 exonic rs1043899 UBR4 AU synonymous SNV NM_020765 exon98 c.G14379A p.K4793K 0.591853 0.7589 0.552591 0.5807 0.7607 Uncertain 1_19419251_G->C 1 19419251 19419251 G C snp 412.77 0/1 99 47 28 19 0.4 intronic rs75794545 UBR4 AU NM_020765 exon10 c.17987-61G>C 0.0247604 0.0407 Uncertain 1_19420392_G->A 1 19420392 19420392 G A snp 993.77 1/1 72 30 0 30 1.0 intronic rs1106839 UBR4 AU NM_020765 exon12 c.19117-50G>A 0.714058 0.8105 0.666462 0.6442 0.8073 Uncertain 1_19426199_G->A 1 19426199 19426199 G A snp 2670.77 1/1 99 85 0 85 1.0 intronic rs2236377 UBR4 AU NM_020765 exon17 c.24846+28G>A 0.714257 0.8105 0.666385 0.6436 0.8112 Uncertain 1_19431700_C->T 1 19431700 19431700 C T snp 384.77 0/1 99 43 25 18 0.42 intronic rs78576462 UBR4 AU NM_020765 exon22 c.30358+17C>T 0.024361 0.0407 0.019299 0.0278 0.0427 Uncertain 1_19433449_A->G 1 19433449 19433449 A G snp 475.77 1/1 36 16 0 16 1.0 exonic rs6426677 UBR4 AU synonymous SNV NM_020765 exon82 c.T12117C p.V4039V 0.719249 0.8105 0.671767 0.6461 0.8107 Uncertain 1_19440107_A->G 1 19440107 19440107 A G snp 307.78 1/1 24 8 0 8 1.0 intronic rs9661719 UBR4 AU NM_020765 exon30 c.38867-85A>G 0.712859 0.8105 Uncertain 1_19441699_A->G 1 19441699 19441699 A G snp 34.77 0/1 33 3 1 2 0.67 intronic UBR4 AU NM_020765 exon33 c.40566-192A>G Uncertain 1_19444359_G->A 1 19444359 19444359 G A snp 1690.77 0/1 99 149 69 80 0.54 exonic rs151119836 UBR4 AU synonymous SNV NM_020765 exon72 c.C10587T p.S3529S 0.000199681 0.000384 0.0002 0.0003 ID=COSM901426;OCCURENCE=1(endometrium) Uncertain 1_19447843_C->G 1 19447843 19447843 C G snp 1769.77 0/1 99 136 65 71 0.52 exonic rs1044010 UBR4 AU synonymous SNV NM_020765 exon68 c.G9981C p.L3327L 0.600439 0.7589 0.560126 0.5831 0.7611 Uncertain 1_19448312_G->A 1 19448312 19448312 G A snp 1186.77 0/1 99 82 37 45 0.55 intronic rs77437768 UBR4 AU NM_020765 exon40 c.47102-115G>A 0.0245607 0.0407 Uncertain 1_19448326_C->T 1 19448326 19448326 C T snp 2809.77 1/1 99 105 0 105 1.0 intronic rs6681662 UBR4 AU NM_020765 exon40 c.47102-101C>T 0.632987 0.7996 Uncertain 1_19448545_C->T 1 19448545 19448545 C T snp 512.77 0/1 99 33 14 19 0.58 intronic UBR4 AU NM_020765 exon40 c.47181+39C>T Uncertain 1_19448608_C->G 1 19448608 19448608 C G snp 381.77 1/1 30 10 0 10 1.0 intronic rs7535738 UBR4 AU NM_020765 exon40 c.47181+102C>G 0.664337 0.8006 Uncertain 1_19464773_C->T 1 19464773 19464773 C T snp 96.28 1/1 9 3 0 3 1.0 intronic rs2274001 UBR4 AU NM_020765 exon47 c.63350+98C>T 0.694888 0.8105 Uncertain 1_19470749_G->C 1 19470749 19470749 G C snp 56.74 1/1 6 2 0 2 1.0 intronic rs2296109 UBR4 AU NM_020765 exon52 c.69260+164G>C 0.694888 0.8046 Uncertain 1_19474975_T->G 1 19474975 19474975 T G snp 1397.77 0/1 99 136 72 64 0.47 intronic rs2296108 UBR4 AU NM_020765 exon57 c.73731-81T>G 0.516773 0.7579 Uncertain 1_19481849_G->A 1 19481849 19481849 G A snp 338.77 0/1 99 28 13 15 0.54 intronic rs79789247 UBR4 AU NM_020765 exon64 c.80609-85G>A 0.0245607 0.0407 Uncertain 1_19483209_A->G 1 19483209 19483209 A G snp 931.77 1/1 69 32 0 32 1.0 intronic rs10799710 UBR4 AU NM_020765 exon66 c.81935-51A>G 0.565695 0.7986 0.468434 Uncertain 1_19483593_T->C 1 19483593 19483593 T C snp 174.9 1/1 15 5 0 5 1.0 intronic rs10753518 UBR4 AU NM_020765 exon66 c.82094+174T>C 0.558107 0.7986 Uncertain 1_19486839_T->C 1 19486839 19486839 T C snp 389.77 1/1 30 11 0 11 1.0 intronic rs946419 UBR4 AU NM_020765 exon68 c.85450+64T>C 0.717053 0.8105 Uncertain 1_19487656_T->C 1 19487656 19487656 T C snp 2485.77 1/1 99 87 0 87 1.0 intronic rs3748759 UBR4 AU NM_020765 exon69 c.86316+15T>C 0.5623 0.7986 0.463555 0.5091 0.8054 Uncertain 1_19488493_A->C 1 19488493 19488493 A C snp 174.9 1/1 15 5 0 5 1.0 intronic rs3748758 UBR4 AU NM_020765 exon71 c.87066+102A>C 0.517372 0.7579 Uncertain 1_19489275_G->A 1 19489275 19489275 G A snp 156.77 0/1 98 8 3 5 0.63 intronic rs10799715 UBR4 AU NM_020765 exon72 c.87780+170G>A 0.517173 0.7579 Uncertain 1_19491857_T->C 1 19491857 19491857 T C snp 5922.77 1/1 99 224 0 224 1.0 intronic rs3748757 UBR4 AU NM_020765 exon76 c.90518+14T>C 0.718051 0.8105 0.671844 0.6450 0.8122 Uncertain 1_19494718_T->C 1 19494718 19494718 T C snp 369.77 0/1 99 40 20 20 0.5 intronic rs191568471 UBR4 AU NM_020765 exon79 c.93353+40T>C 0.000599042 0.003 0.0003 0.0033 Uncertain 1_19499835_G->C 1 19499835 19499835 G C snp 5804.77 1/1 99 191 0 191 1.0 intronic rs951908 UBR4 AU NM_020765 exon83 c.98475+35G>C 0.71226 0.8105 0.666000 0.6419 0.8111 Uncertain 1_19500729_G->A 1 19500729 19500729 G A snp 2441.77 1/1 99 81 0 81 1.0 intronic rs6694521 UBR4 AU NM_020765 exon85 c.99487-83G>A 0.71226 0.8105 Uncertain 1_19503936_A->T 1 19503936 19503936 A T snp 1324.77 0/1 99 131 73 58 0.44 intronic rs78463695 UBR4 AU NM_020765 exon88 c.102629-18A>T 0.0245607 0.0407 0.019145 0.0278 0.0430 Uncertain 1_19510394_A->G 1 19510394 19510394 A G snp 4694.77 1/1 99 171 0 171 1.0 splicing rs3762396 UBR4 AU NM_020765 exon90 c.109065+4A>G 0.716853 0.8105 0.671690 0.6444 0.8129 Pathogenic 1_19518659_G->A 1 19518659 19518659 G A snp 440.77 0/1 99 57 37 20 0.35 intronic rs11588032 UBR4 AU NM_020765 exon96 c.117356-22G>A 0.487819 0.6885 0.409588 0.4434 0.6739 Uncertain 1_19519782_C->T 1 19519782 19519782 C T snp 988.77 0/1 99 59 27 32 0.54 intronic rs10799734 UBR4 AU NM_020765 exon98 c.118601-144C>T 0.488019 0.6905 Uncertain 1_19519887_G->C 1 19519887 19519887 G C snp 3125.77 0/1 99 250 129 121 0.48 intronic rs72651403 UBR4 AU NM_020765 exon98 c.118601-39G>C 0.339457 0.629 0.242503 0.3248 0.6039 Uncertain 1_19549343_G->C 1 19549343 19549343 G C snp 1974.77 0/1 99 177 84 93 0.53 intronic rs2073106 EMC1 AR NM_015047 exon4 c.3532+15G>C 0.333466 0.6815 0.219053 0.3081 0.6653 Uncertain 1_19549759_G->A 1 19549759 19549759 G A snp 96.28 1/1 9 3 0 3 1.0 intronic rs710870 EMC1 AR NM_015047 exon5 c.4093-130G>A 0.502796 0.7222 Uncertain 1_19549864_T->C 1 19549864 19549864 T C snp 891.77 0/1 99 61 25 36 0.59 intronic rs2073105 EMC1 AR NM_015047 exon5 c.4093-25T>C 0.332468 0.6835 0.212671 0.2960 0.6644 Uncertain 1_19554099_T->G 1 19554099 19554099 T G snp 708.77 1/1 54 20 0 20 1.0 intronic rs7515397 EMC1 AR NM_015047 exon6 c.8148+155T>G 0.672724 0.7391 Uncertain 1_19557713_G->C 1 19557713 19557713 G C snp 417.77 1/1 33 13 1 12 0.92 intronic rs2275403 EMC1 AR NM_015047 exon8 c.11958-41G>C 0.667931 0.7401 0.625788 0.5809 0.7257 Uncertain 1_19559306_A->G 1 19559306 19559306 A G snp 1003.77 0/1 99 107 62 45 0.42 intronic rs79432876 EMC1 AR NM_015047 exon9 c.13471+39A>G 0.0239617 0.0417 0.019145 0.0267 0.0417 Uncertain 1_19559729_A->G 1 19559729 19559729 A G snp 37.77 0/1 66 8 6 2 0.25 intronic rs16862625 EMC1 AR NM_015047 exon10 c.13833+100A>G 0.194289 0.125 Uncertain 1_19561618_T->C 1 19561618 19561618 T C snp 3582.77 0/1 99 250 120 130 0.52 splicing rs79970487 EMC1 AR NM_015047 exon11 c.15827-5T>C 0.0239617 0.0417 0.019145 0.0270 0.0417 Pathogenic 1_19564650_C->G 1 19564650 19564650 C G snp 1178.77 0/1 99 102 47 55 0.54 intronic rs2073104 EMC1 AR NM_015047 exon13 c.18837+17C>G 0.307308 0.6141 0.183608 0.2690 0.5910 Uncertain 1_19565175_T->C 1 19565175 19565175 T C snp 161.77 0/1 63 7 2 5 0.71 intronic rs709681 EMC1 AR NM_015047 exon14 c.19492-113T>C 0.194489 0.126 Uncertain 1_19565338_C->T 1 19565338 19565338 C T snp 1196.77 0/1 99 120 69 51 0.42 exonic rs709682 EMC1 AR nonsynonymous SNV NM_015047 exon10 c.G1040A p.S347N 0.170128 0.124 0.191911 0.1422 0.1275 0.49 T 0.000 P -0.904 T 0.001 T 0.001 T Pathogenic 1_19565344_C->G 1 19565344 19565344 C G snp 3513.77 1/1 99 126 0 126 1.0 exonic rs709683 EMC1 AR nonsynonymous SNV NM_015047 exon10 c.G1034C p.S345T 0.572284 0.7401 0.469553 0.4418 0.7224 0.17 T 0.000 P -1.041 T 0.0 T 0.0 T Pathogenic 1_19565587_G->T 1 19565587 19565587 G T snp 980.77 0/1 99 61 28 33 0.54 intronic rs75908290 EMC1 AR NM_015047 exon15 c.19928-137G>T 0.0239617 0.0417 Uncertain 1_19566296_T->C 1 19566296 19566296 T C snp 2143.77 0/1 99 190 94 96 0.51 intronic rs2273046 EMC1 AR NM_015047 exon16 c.20515-15T>C 0.42472 0.6806 0.283100 0.3122 0.6715 Uncertain 1_19566957_G->A 1 19566957 19566957 G A snp 852.77 0/1 99 85 45 40 0.47 intronic rs16862640 EMC1 AR NM_015047 exon17 c.21144+17G>A 0.023762 0.0407 0.019068 0.0268 0.0418 Uncertain 1_19568722_G->C 1 19568722 19568722 G C snp 252.8 1/1 21 8 0 8 1.0 intronic rs710866 EMC1 AR NM_015047 exon19 c.23042-116G>C 0.574081 0.7401 Uncertain 1_19568972_A->G 1 19568972 19568972 A G snp 1605.77 1/1 99 58 0 58 1.0 splicing rs710865 EMC1 AR NM_015047 exon19 c.23171+5A>G 0.581869 0.7401 0.482239 0.4483 0.7223 Pathogenic 1_19578027_C->T 1 19578027 19578027 C T snp 2233.77 0/1 99 181 89 92 0.51 UTR5 rs2294943 EMC1 AR 0.029353 0.0397 0.029068 0.0351 0.0400 Uncertain 1_19578192_G->A 1 19578192 19578192 G A snp 446.77 0/1 99 29 12 17 0.59 UTR5 rs2294942 MRTO4 AU 0.645367 0.8264 Uncertain 1_19578385_G->C 1 19578385 19578385 G C snp 2146.77 0/1 99 200 113 87 0.43 intronic rs17522898 MRTO4 AU NM_016183 exon1 c.28+28G>C 0.0295527 0.0407 0.025160 0.0614 0.0794 Uncertain 1_19581226_G->A 1 19581226 19581226 G A snp 1190.77 0/1 99 91 45 46 0.51 intronic rs735026 MRTO4 AU NM_016183 exon2 c.2946-49G>A 0.251797 0.1032 0.322543 0.2268 0.1180 Uncertain 1_19581442_-->AAA 1 19581442 19581442 - AAA indel 416.73 0/1 99 41 12 29 0.71 intronic rs529464146 MRTO4 AU NM_016183 exon2 c.3005+108insAAA Uncertain 1_19581467_C->T 1 19581467 19581467 C T snp 298.77 0/1 99 21 8 13 0.62 intronic rs1774081 MRTO4 AU NM_016183 exon2 c.3005+133C>T 0.251398 0.1012 Uncertain 1_19582563_G->A 1 19582563 19582563 G A snp 2059.77 1/1 99 76 0 76 1.0 intronic rs1557133 MRTO4 AU NM_016183 exon3 c.4216+18G>A 0.898962 0.9266 0.865293 0.8660 0.9170 Uncertain 1_19583400_A->G 1 19583400 19583400 A G snp 744.77 1/1 54 25 0 25 1.0 intronic rs1774075 MRTO4 AU NM_016183 exon4 c.5228-157A>G 0.986022 1 Uncertain 1_19583680_C->T 1 19583680 19583680 C T snp 444.77 0/1 99 32 16 16 0.5 intronic rs75881622 MRTO4 AU NM_016183 exon4 c.5310+41C>T 0.0297524 0.0417 0.029064 0.0347 0.0393 Uncertain 1_19583684_C->T 1 19583684 19583684 C T snp 361.77 0/1 99 29 16 13 0.45 intronic rs1774074 MRTO4 AU NM_016183 exon4 c.5310+45C>T 0.251398 0.1012 0.322467 0.2287 0.1184 Uncertain 1_19583725_T->C 1 19583725 19583725 T C snp 292.77 0/1 99 22 12 10 0.45 intronic rs1738017 MRTO4 AU NM_016183 exon4 c.5310+86T>C 0.251398 0.1012 Uncertain 1_19583734_G->A 1 19583734 19583734 G A snp 379.77 0/1 99 20 7 13 0.65 intronic rs4912057 MRTO4 AU NM_016183 exon4 c.5310+95G>A 0.645367 0.8254 Uncertain 1_19584004_G->A 1 19584004 19584004 G A snp 939.77 0/1 99 99 57 42 0.42 exonic rs1042380 MRTO4 AU synonymous SNV NM_016183 exon5 c.G330A p.E110E 0.251398 0.1012 0.322543 0.2271 0.1182 Uncertain 1_19584030_G->A 1 19584030 19584030 G A snp 600.77 0/1 99 62 39 23 0.37 intronic rs76779645 MRTO4 AU NM_016183 exon5 c.5686+15G>A 0.0297524 0.0417 0.028833 0.0346 0.0393 Uncertain 1_19585115_C->G 1 19585115 19585115 C G snp 2646.77 0/1 99 227 110 117 0.52 intronic rs2294941 MRTO4 AU NM_016183 exon8 c.6845-59C>G 0.0297524 0.0417 Uncertain 1_19585124_C->T 1 19585124 19585124 C T snp 2675.77 0/1 99 223 106 117 0.52 intronic rs2294940 MRTO4 AU NM_016183 exon8 c.6845-50C>T 0.0297524 0.0417 0.029064 0.0346 0.0391 Uncertain 1_19585207_G->A 1 19585207 19585207 G A snp 1653.77 0/1 99 125 60 65 0.52 exonic rs2294939 MRTO4 AU synonymous SNV NM_016183 exon8 c.G603A p.K201K 0.109225 0.1012 0.130248 0.1293 0.1178 Uncertain 1_19593677_T->- 1 19593677 19593677 T - indel 666.73 0/1 99 50 25 25 0.5 ncRNA_exonic rs145751450 AKR7L AU 0.0309505 0.0476 Uncertain 1_19593826_A->C 1 19593826 19593826 A C snp 1599.77 0/1 99 122 48 74 0.61 ncRNA_exonic rs2982534 AKR7L AU 0.0311502 0.0476 0.029371 0.0347 0.0397 1 T 0.997 N -0.905 T 0.0 T 0.0 T Uncertain 1_19594016_T->C 1 19594016 19594016 T C snp 99.77 0/1 99 119 72 47 0.39 ncRNA_intronic rs61764915 AKR7L AU 0.0303514 0.0466 Uncertain 1_19595137_C->T 1 19595137 19595137 C T snp 1862.77 0/1 99 174 95 79 0.45 ncRNA_exonic rs2235795 AKR7L AU 0.665136 0.8016 0.588344 0.6876 0.7769 0.35 T 0.0 P -1.041 T 0.003 T 0.011 T Uncertain 1_19595159_C->T 1 19595159 19595159 C T snp 2773.77 0/1 99 219 102 117 0.53 ncRNA_exonic rs116631486 AKR7L AU 0.0309505 0.0476 0.029371 0.0346 0.0395 Uncertain 1_19595696_C->T 1 19595696 19595696 C T snp 2003.77 0/1 99 224 131 93 0.42 ncRNA_intronic rs140814189 AKR7L AU 0.0309505 0.0476 Uncertain 1_19595760_A->G 1 19595760 19595760 A G snp 2202.77 0/1 99 249 144 105 0.42 ncRNA_splicing rs76554243 AKR7L AU 0.0311502 0.0476 0.028252 0.0347 0.0396 Uncertain 1_19595892_G->A 1 19595892 19595892 G A snp 912.77 0/1 99 78 42 36 0.46 ncRNA_intronic rs6665423 AKR7L AU 0.666134 0.8016 0.594612 0.6896 0.7781 Uncertain 1_19596124_C->T 1 19596124 19596124 C T snp 678.77 0/1 99 51 24 27 0.53 ncRNA_exonic rs2235794 AKR7L AU 0.664936 0.8016 0.593955 0.6867 0.7756 0.01 T 1.0 P -0.962 T 1.0 D 0.997 D Uncertain 1_19596156_G->T 1 19596156 19596156 G T snp 974.77 0/1 99 89 46 43 0.48 ncRNA_exonic rs6665756 AKR7L AU 0.665935 0.8016 0.594612 0.6863 0.7749 Uncertain 1_19596841_G->A 1 19596841 19596841 G A snp 80.77 0/1 69 5 2 3 0.6 ncRNA_intronic rs7536049 AKR7L AU 0.86881 0.7966 Uncertain 1_19597156_T->A 1 19597156 19597156 T A snp 385.77 0/1 99 49 30 19 0.39 ncRNA_intronic rs115567428 AKR7L AU 0.0335463 0.0476 Uncertain 1_19597275_C->- 1 19597275 19597275 C - indel 957.73 0/1 99 47 22 25 0.53 ncRNA_exonic rs140586925 AKR7L AU 0.0309505 0.0476 0.029308 0.0352 0.0401 Uncertain 1_19597289_C->T 1 19597289 19597289 C T snp 745.77 0/1 99 55 24 31 0.56 ncRNA_exonic rs116080943 AKR7L AU 0.0315495 0.0476 0.029755 0.0349 0.0395 1 T 1 D -1.080 T 0.0 T 0.0 T Uncertain 1_19597328_A->G 1 19597328 19597328 A G snp 1200.77 0/1 99 102 51 51 0.5 ncRNA_exonic rs190747734 AKR7L AU 0.0309505 0.0476 0.029371 0.0346 0.0395 1.000 N Uncertain 1_19597477_C->T 1 19597477 19597477 C T snp 1272.77 0/1 99 71 22 49 0.69 ncRNA_intronic rs115245335 AKR7L AU 0.0309505 0.0476 0.027595 0.0364 0.0416 Uncertain 1_19600395_A->C 1 19600395 19600395 A C snp 34.77 0/1 63 33 29 4 0.12 ncRNA_exonic rs370005459 AKR7L AU 0.0289537 0.0446 0.0218 0.0241 0 D 1 D -0.807 T Uncertain 1_19609204_G->A 1 19609204 19609204 G A snp 1984.77 0/1 99 182 93 89 0.49 UTR3 rs116787495 AKR7A3 AU 0.0309505 0.0476 0.029543 0.0347 0.0398 Uncertain 1_19609254_T->C 1 19609254 19609254 T C snp 5331.77 1/1 99 206 0 206 1.0 exonic rs1738025 AKR7A3 AU nonsynonymous SNV NM_012067 exon7 c.A967G p.T323A 0.83147 0.8413 0.797322 0.8271 0.8158 1 T 0.000 P -0.989 T 0.0 T 0.0 T Pathogenic 1_19609437_T->C 1 19609437 19609437 T C snp 69.77 0/1 98 98 50 48 0.49 intronic rs12070508 AKR7A3 AU NM_012067 exon1 c.162+51T>C 0.181909 0.1994 0.027869 0.0626 0.0387 Uncertain 1_19609448_G->A 1 19609448 19609448 G A snp 1077.77 0/1 99 97 48 49 0.51 intronic rs117166526 AKR7A3 AU NM_012067 exon1 c.162+62G>A 0.00559105 0.0278 Uncertain 1_19609522_G->A 1 19609522 19609522 G A snp 587.77 0/1 45 58 33 25 0.43 intronic rs140599506 AKR7A3 AU NM_012067 exon1 c.162+136G>A 0.746406 0.7927 Uncertain 1_19610598_A->G 1 19610598 19610598 A G snp 2333.77 0/1 99 208 109 99 0.48 exonic rs116050237 AKR7A3 AU synonymous SNV NM_012067 exon6 c.T726C p.F242F 0.0309505 0.0476 0.029543 0.0351 0.0399 Uncertain 1_19610812_A->G 1 19610812 19610812 A G snp 113.77 0/1 97 7 3 4 0.57 intronic rs78167373 AKR7A3 AU NM_012067 exon2 c.1395+193A>G 0.0309505 0.0476 Uncertain 1_19610995_T->A 1 19610995 19610995 T A snp 331.77 0/1 99 23 12 11 0.48 intronic rs114675589 AKR7A3 AU NM_012067 exon3 c.1955-184T>A 0.0307508 0.0476 Uncertain 1_19610999_C->A 1 19610999 19610999 C A snp 400.77 0/1 99 26 13 13 0.5 intronic rs116582396 AKR7A3 AU NM_012067 exon3 c.1955-180C>A 0.0307508 0.0476 Uncertain 1_19611006_C->A 1 19611006 19611006 C A snp 439.77 0/1 99 35 20 15 0.43 intronic rs114307705 AKR7A3 AU NM_012067 exon3 c.1955-173C>A 0.0307508 0.0476 Uncertain 1_19611241_T->C 1 19611241 19611241 T C snp 5097.77 1/1 99 174 0 174 1.0 exonic rs1738023 AKR7A3 AU nonsynonymous SNV NM_012067 exon5 c.A643G p.N215D 0.807708 0.8502 0.773657 0.8247 0.8202 1 T 0.000 P -0.957 T 0.0 T 0.001 T ID=CM062419;DIS=Leukemia, risk, association with;TAG=DP;PUB=16574953 DP Pathogenic 1_19611844_G->A 1 19611844 19611844 G A snp 83.77 0/1 69 5 2 3 0.6 intronic rs114311422 AKR7A3 AU NM_012067 exon4 c.2384+236G>A 0.0311502 0.0486 Uncertain 1_19612477_C->T 1 19612477 19612477 C T snp 879.77 0/1 99 88 50 38 0.43 exonic rs2231198 AKR7A3 AU nonsynonymous SNV NM_012067 exon3 c.G412A p.V138M 0.463259 0.6905 0.363441 0.4239 0.6814 0.15 T 0.012 P -0.983 T 0.375 T 0.057 T Pathogenic 1_19614928_A->G 1 19614928 19614928 A G snp 52.77 0/1 81 14 11 3 0.21 intronic rs117022236 AKR7A3 AU NM_012067 exon7 c.5765-61A>G 0.0215655 0.0526 Uncertain 1_19615042_G->A 1 19615042 19615042 G A snp 96.77 0/1 99 30 22 8 0.27 exonic rs118060916 AKR7A3 AU synonymous SNV NM_012067 exon1 c.C162T p.S54S 0.019369 0.0476 0.0087 0.0450 Uncertain 1_19634940_C->G 1 19634940 19634940 C G snp 102.77 0/1 99 11 7 4 0.36 intronic rs74058542 AKR7A2 AU NM_003689 exon6 c.4230-8C>G 0.0916534 0.0466 0.072659 0.0313 0.0414 Uncertain 1_19634964_C->G 1 19634964 19634964 C G snp 279.77 0/1 99 26 17 9 0.35 exonic rs859208 AKR7A2 AU nonsynonymous SNV NM_003689 exon2 c.G471C p.Q157H 0.101238 0.0466 0.094187 0.0337 0.0389 0.68 T 0.001 P -0.945 T 0.0 T 0.005 T Pathogenic 1_19635195_C->A 1 19635195 19635195 C A snp 1615.77 0/1 99 115 48 67 0.58 intronic rs72955249 AKR7A2 AU NM_003689 exon6 c.4418+59C>A 0.052516 0.0466 Uncertain 1_19635213_T->A 1 19635213 19635213 T A snp 1486.77 0/1 99 94 37 57 0.61 intronic rs60823204 AKR7A2 AU NM_003689 exon6 c.4418+77T>A 0.0916534 0.0466 Uncertain 1_19638309_A->G 1 19638309 19638309 A G snp 158.77 0/1 99 13 7 6 0.46 intronic rs2227295 AKR7A2 AU NM_003689 exon7 c.7602-11A>G 0.710064 0.5714 0.765047 0.7234 0.5584 Uncertain 1_19669235_A->G 1 19669235 19669235 A G snp 280.77 0/1 99 37 24 13 0.35 intronic rs12124843 CAPZB AU NM_001282162 exon2 c.4828-1616A>G 0.201278 0.1885 0.203174 0.2380 0.2076 Uncertain 1_19683301_G->T 1 19683301 19683301 G T snp 393.77 0/1 99 39 24 15 0.38 intronic rs169957 CAPZB AU NM_001282162 exon4 c.17222+56G>T 0.477835 0.5556 Uncertain 1_19746008_C->A 1 19746008 19746008 C A snp 138.77 0/1 99 10 5 5 0.5 intronic rs117139190 CAPZB AU NM_001282162 exon8 c.80131-146C>A 0.00479233 0.0238 Uncertain 1_19775113_T->C 1 19775113 19775113 T C snp 138.77 0/1 99 12 7 5 0.42 intronic rs4912096 CAPZB AU NM_001206541 exon8 c.109267-214T>C 0.235623 0.2351 Uncertain 1_19775246_C->T 1 19775246 19775246 C T snp 1222.77 0/1 99 116 60 56 0.48 intronic rs10442634 CAPZB AU NM_001206541 exon8 c.109267-81C>T 0.227636 0.2351 Uncertain 1_19775492_A->G 1 19775492 19775492 A G snp 53.77 0/1 82 19 16 3 0.16 UTR5 rs10442635 CAPZB AU 0.235823 0.2341 Uncertain 1_19934900_G->A 1 19934900 19934900 G A snp 1479.77 0/1 99 143 81 62 0.43 ncRNA_exonic rs61740466 RPS14P3 AU 0.243411 0.5248 0.2537 0.5266 Uncertain 1_19948507_A->G 1 19948507 19948507 A G snp 289.77 0/1 99 36 23 13 0.36 intronic rs728611 MINOS1 AU NM_001204083 exon2 c.25054-86A>G 0.346246 0.1419 Uncertain 1_19950062_T->C 1 19950062 19950062 T C snp 1004.77 0/1 99 87 46 41 0.47 exonic rs1737428 MINOS1 AU synonymous SNV NM_001204082 exon2 c.T159C p.H53H 0.345647 0.1419 0.353990 0.2465 0.1741 Uncertain 1_19972586_A->G 1 19972586 19972586 A G snp 677.77 0/1 99 47 19 28 0.6 intronic rs11810271 MINOS1-NBL1 AU NM_001204088 exon3 c.54062-8918A>G 0.398962 0.1617 Uncertain 1_19992513_C->T 1 19992513 19992513 C T snp 3115.77 0/1 99 250 134 116 0.46 exonic rs1805054 HTR6 AU synonymous SNV NM_000871 exon1 c.C267T p.Y89Y 0.172524 0.2123 0.152231 0.1512 0.2375 ID=CM994739;DIS=Clozapine response, association with;TAG=DP;PUB=10363930 DP Uncertain 1_20005346_A->C 1 20005346 20005346 A C snp 1374.77 0/1 99 102 57 45 0.44 intronic rs8192532 HTR6 AU NM_000871 exon3 c.13165-65A>C 0.197684 0.2133 Uncertain 1_20027049_A->C 1 20027049 20027049 A C snp 165.9 1/1 15 5 0 5 1.0 intronic rs10917520 TMCO4 AU NM_181719 exon3 c.17728-211A>C 0.54353 0.6438 Uncertain 1_20027404_G->A 1 20027404 20027404 G A snp 4325.77 1/1 99 154 0 154 1.0 intronic rs10799834 TMCO4 AU NM_181719 exon3 c.17846+26G>A 0.408546 0.6319 0.332693 0.3431 0.6571 Uncertain 1_20027423_T->G 1 20027423 20027423 T G snp 3606.77 1/1 99 126 0 126 1.0 intronic rs10737480 TMCO4 AU NM_181719 exon3 c.17846+45T>G 0.558107 0.7004 0.469937 0.4314 0.7314 Uncertain 1_20066485_G->A 1 20066485 20066485 G A snp 1764.77 0/1 99 159 85 74 0.47 intronic rs6426824 TMCO4 AU NM_181719 exon5 c.56921+32G>A 0.152756 0.0496 0.187529 0.1338 0.0608 Uncertain 1_20066490_T->C 1 20066490 20066490 T C snp 1758.77 0/1 99 154 84 70 0.45 intronic rs6426825 TMCO4 AU NM_181719 exon5 c.56921+37T>C 0.153754 0.0496 0.187529 0.1345 0.0606 Uncertain 1_20067186_T->C 1 20067186 20067186 T C snp 1603.77 0/1 99 148 82 66 0.45 intronic rs12065466 TMCO4 AU NM_181719 exon6 c.57737-83T>C 0.153554 0.0496 Uncertain 1_20073146_G->A 1 20073146 20073146 G A snp 95.77 0/1 99 11 7 4 0.36 intronic rs36067693 TMCO4 AU NM_181719 exon8 c.63560+54G>A 0.195687 0.3849 Uncertain 1_20097611_G->A 1 20097611 20097611 G A snp 52.74 1/1 6 2 0 2 1.0 intronic rs1266436 TMCO4 AU NM_181719 exon12 c.88268-189G>A 0.93151 0.9196 Uncertain 1_20141283_C->T 1 20141283 20141283 C T snp 3937.77 1/1 99 132 0 132 1.0 exonic rs1541184 RNF186 AU synonymous SNV NM_019062 exon1 c.G312A p.A104A 0.151757 0.1776 0.064662 0.1112 0.1846 Uncertain 1_20141528_C->T 1 20141528 20141528 C T snp 4925.77 1/1 99 190 0 190 1.0 exonic rs1541185 RNF186 AU nonsynonymous SNV NM_019062 exon1 c.G67A p.A23T 0.288538 0.3323 0.236429 0.2846 0.3340 0.05 T 0.0 P -0.969 T 0.341 T 0.024 T Pathogenic 1_20216860_G->A 1 20216860 20216860 G A snp 2135.77 0/1 99 175 92 83 0.47 intronic rs10799593 OTUD3 AU NM_015207 exon2 c.7871-17G>A 0.454073 0.2331 0.548003 0.4904 0.2666 Uncertain 1_20234397_T->A 1 20234397 20234397 T A snp 56.74 1/1 6 2 0 2 1.0 UTR3 rs139726765 OTUD3 AU 0.00219649 0.0109 Uncertain 1_20246876_C->T 1 20246876 20246876 C T snp 1725.77 0/1 99 127 56 71 0.56 exonic rs61729970 PLA2G2E AU nonsynonymous SNV NM_014589 exon4 c.G353A p.R118H 0.0936502 0.1548 0.088651 0.0936 0.1513 0.1 T 0.0 P -1.058 T 0.003 T 0.014 T Pathogenic 1_20248646_G->A 1 20248646 20248646 G A snp 320.77 0/1 99 23 13 10 0.43 intronic rs1108972 PLA2G2E AU NM_014589 exon2 c.1991-144G>A 0.139776 0.1766 Uncertain 1_20248651_A->G 1 20248651 20248651 A G snp 387.77 0/1 99 28 16 12 0.43 intronic rs1108973 PLA2G2E AU NM_014589 exon2 c.1991-139A>G 0.139776 0.1766 Uncertain 1_20248709_A->G 1 20248709 20248709 A G snp 1373.77 0/1 99 104 50 54 0.52 intronic rs1108974 PLA2G2E AU NM_014589 exon2 c.1991-81A>G 0.139976 0.1766 Uncertain 1_20305065_C->T 1 20305065 20305065 C T snp 1265.77 1/1 90 46 0 46 1.0 intronic rs10732279 PLA2G2A AD NM_000300 exon3 c.2824+48C>T 0.834265 0.9425 0.779948 0.7801 0.9460 Uncertain 1_20395587_G->A 1 20395587 20395587 G A snp 2175.77 0/1 99 204 106 98 0.48 intergenic rs2148911 PLA2G2A AD 0.102037 0.2411 Uncertain 1_20411301_T->- 1 20411301 20411301 T - indel 606.73 0/1 99 42 17 25 0.6 intronic rs2020883 PLA2G5 AR 0.0740815 0.126 0.026433 0.0611 0.1480 Uncertain 1_20442054_T->C 1 20442054 20442054 T C snp 2736.77 1/1 99 107 0 107 1.0 exonic rs584367 PLA2G2D AU nonsynonymous SNV NM_012400 exon3 c.A238G p.S80G 0.769369 0.7569 0.690912 0.6607 0.7723 0.83 T 0.0 P -0.975 T 0.0 T 0.0 T ID=CM058252;DIS=Reduced BMI, in COPD, association with;TAG=DFP;PUB=16002569 DFP Pathogenic 1_20442691_C->T 1 20442691 20442691 C T snp 263.77 0/1 99 23 12 11 0.48 intronic rs3736979 PLA2G2D AU NM_012400 exon3 c.2219-134C>T 0.451078 0.7431 Uncertain 1_20446171_T->- 1 20446171 20446171 T - indel 522.73 1/1 40 22 1 21 0.95 upstream rs11298078 PLA2G2D AU 1 1 Uncertain 1_20474907_T->C 1 20474907 20474907 T C snp 120.77 0/1 99 24 18 6 0.25 UTR3 rs3738126 PLA2G2F AU 0.148962 0.1558 0.115290 0.1324 0.1454 Uncertain 1_20490518_T->C 1 20490518 20490518 T C snp 2210.77 0/1 99 209 117 92 0.44 exonic rs6426616 PLA2G2C AU nonsynonymous SNV NM_001105572 exon3 c.A419G p.Q140R 0.659944 0.7272 0.636356 0.6079 0.7346 0.48 T 0.0 P -0.948 T 0.0 T 0.001 T Pathogenic 1_20499168_T->C 1 20499168 20499168 T C snp 714.77 0/1 99 44 19 25 0.57 intronic rs2301475 PLA2G2C AU NM_001105572 exon2 c.8803-118T>C 0.422125 0.6627 Uncertain 1_20501582_G->A 1 20501582 20501582 G A snp 1385.77 0/1 99 107 45 62 0.58 exonic rs12139100 PLA2G2C AU stopgain NM_001105572 exon1 c.C106T p.R36X 0.240216 0.1766 0.199706 0.2095 0.1585 0.38 T 1.000 P Pathogenic 1_20637043_C->T 1 20637043 20637043 C T snp 1437.77 0/1 99 102 46 56 0.55 intronic rs12726937 VWA5B1 AU 0.241613 0.374 Uncertain 1_20637374_T->C 1 20637374 20637374 T C snp 1220.77 0/1 99 88 42 46 0.52 intronic rs10916761 VWA5B1 AU NM_001039500 exon2 c.139+141T>C 0.783946 0.9325 Uncertain 1_20645213_C->T 1 20645213 20645213 C T snp 582.77 0/1 99 38 19 19 0.5 exonic rs370976049 VWA5B1 AU synonymous SNV NM_001039500 exon6 c.C840T p.S280S 0.0001 0 Uncertain 1_20649814_T->C 1 20649814 20649814 T C snp 1453.77 0/1 99 122 63 59 0.48 intronic rs4655194 VWA5B1 AU NM_001039500 exon8 c.12754-34T>C 0.607628 0.9087 0.490145 0.5103 0.8864 Uncertain 1_20657352_T->C 1 20657352 20657352 T C snp 1395.77 0/1 99 154 91 63 0.41 intronic rs2072753 VWA5B1 AU NM_001039500 exon11 c.20267-9T>C 0.605032 0.9097 0.485107 0.4883 0.8842 Uncertain 1_20664128_T->C 1 20664128 20664128 T C snp 936.77 0/1 99 87 45 42 0.48 intronic rs57312184 VWA5B1 AU NM_001039500 exon14 c.27044-10T>C 0.198682 0.5407 0.089794 0.1574 0.5195 Uncertain 1_20671833_C->A 1 20671833 20671833 C A snp 821.77 0/1 99 57 27 30 0.53 intronic rs10799629 VWA5B1 AU NM_001039500 exon17 c.34854-115C>A 0.608826 0.9077 Uncertain 1_20676932_T->A 1 20676932 20676932 T A snp 111.77 0/1 99 9 5 4 0.44 intronic rs179471 VWA5B1 AU NM_001039500 exon19 c.39629+209T>A 0.566494 0.9077 Uncertain 1_20677197_G->C 1 20677197 20677197 G C snp 56.74 1/1 6 2 0 2 1.0 intronic rs10916772 VWA5B1 AU NM_001039500 exon20 c.40255-152G>C 0.247804 0.6002 Uncertain 1_20680760_A->G 1 20680760 20680760 A G snp 1195.77 0/1 99 108 48 60 0.56 UTR3 rs230180 VWA5B1 AU 0.587859 0.9087 0.5278 0.8891 Uncertain 1_20829560_G->A 1 20829560 20829560 G A snp 95.77 0/1 99 22 17 5 0.23 intronic rs2641114 MUL1 AU NM_024544 exon3 c.2532-154G>A 0.460663 0.5397 Uncertain 1_20880207_G->T 1 20880207 20880207 G T snp 459.77 0/1 99 32 13 19 0.59 exonic FAM43B AU synonymous SNV NM_207334 exon1 c.G741T p.R247R Uncertain 1_20915590_C->- 1 20915590 20915590 C - indel 1700.73 0/1 99 93 43 50 0.54 UTR5 rs3215400 CDA AU 0.540535 0.4335 0.583613 0.5407 0.4332 Uncertain 1_20915813_G->A 1 20915813 20915813 G A snp 897.77 0/1 99 76 43 33 0.43 intronic rs12059454 CDA AU NM_001785 exon1 c.154+37G>A 0.152157 0.2411 0.075993 0.0688 0.2327 ID=CS102723;DIS=CDA deficiency;TAG=DM?;PUB=20010457 DM? Uncertain 1_20931601_-->ATTC 1 20931601 20931601 - ATTC indel 1419.73 0/1 99 97 42 55 0.57 intronic rs144224977 CDA AU NM_001785 exon2 c.15910+69insATTC 0.101038 0.1845 Uncertain 1_20940258_T->A 1 20940258 20940258 T A snp 1417.77 1/1 99 50 0 50 1.0 intronic rs488991 CDA AU NM_001785 exon3 c.24712-76T>A 0.97484 1 Uncertain 1_20960230_C->T 1 20960230 20960230 C T snp 582.77 0/1 99 60 34 26 0.43 exonic rs45530340 PINK1 AR synonymous SNV NM_032409 exon1 c.C189T p.L63L 0.128594 0.127 0.121555 0.2250 0.2908 Uncertain 1_20964328_A->G 1 20964328 20964328 A G snp 932.77 1/1 69 28 0 28 1.0 intronic rs2298298 PINK1 AR NM_032409 exon2 c.4293-6A>G 0.821885 0.8165 0.843380 0.8623 0.8102 Uncertain 1_20970949_T->C 1 20970949 20970949 T C snp 1058.77 0/1 99 99 50 49 0.49 ncRNA_intronic rs199769220 PINK1-AS AU 0.00199681 0.0099 0.0008 0.0114 Uncertain 1_20971911_G->C 1 20971911 20971911 G C snp 71.77 0/1 99 6 3 3 0.5 ncRNA_intronic rs56125389 PINK1-AS AU 0.11222 0.126 Uncertain 1_20972048_G->A 1 20972048 20972048 G A snp 2225.77 1/1 99 72 0 72 1.0 splicing rs3131713 PINK1 AR NM_032409 exon5 c.12011-4G>A 0.820687 0.8145 0.844226 0.8628 0.8091 Pathogenic 1_20972111_G->A 1 20972111 20972111 G A snp 1565.77 0/1 99 142 71 71 0.5 exonic rs3738136 PINK1 AR nonsynonymous SNV NM_032409 exon5 c.G1018A p.A340T 0.122804 0.2748 0.037444 0.0921 0.2733 1 T 0.0 P -1.075 T 0.002 T 0.002 T ID=CM068600;DIS=Parkinson disease, increased risk, association with;TAG=DP;PUB=17084972 DP Pathogenic 1_20972340_G->A 1 20972340 20972340 G A snp 41.77 0/1 64 4 2 2 0.5 ncRNA_intronic rs3131714 PINK1-AS AU 0.471446 0.4196 Uncertain 1_20974802_A->G 1 20974802 20974802 A G snp 65.77 0/1 94 10 7 3 0.3 ncRNA_splicing rs2298299 PINK1-AS AU 0.115016 0.127 Uncertain 1_20976759_C->T 1 20976759 20976759 C T snp 90.28 1/1 9 3 0 3 1.0 ncRNA_exonic rs540038 PINK1-AS AU 0.836861 0.8165 Uncertain 1_20977000_A->C 1 20977000 20977000 A C snp 893.77 0/1 99 104 61 43 0.41 exonic rs1043424 PINK1 AR nonsynonymous SNV NM_032409 exon8 c.A1562C p.N521T 0.300519 0.3571 0.270029 0.2974 0.3596 0.24 T 0.0 P -1.033 T 0.022 T 0.006 T ID=CM1110088;DIS=Diabetes, type 2, increased risk;TAG=DP;PUB=21677397 DP Pathogenic 1_20977221_A->T 1 20977221 20977221 A T snp 1344.77 1/1 99 38 0 38 1.0 ncRNA_exonic rs686658 PINK1-AS AU 0.834465 0.8165 0.853353 0.8639 0.8094 Uncertain 1_20978832_T->C 1 20978832 20978832 T C snp 1229.77 1/1 90 42 0 42 1.0 UTR3 rs6893 DDOST AR 0.82488 0.8274 0.844024 0.8695 0.8308 Uncertain 1_20979307_-->T 1 20979307 20979307 - T indel 2508.73 0/1 99 178 97 81 0.46 intronic rs11428148 DDOST AR NM_005216 exon3 c.472-36insT 0.501997 0.4206 0.567162 0.5563 0.4262 Uncertain 1_20979580_T->G 1 20979580 20979580 T G snp 261.77 0/1 99 16 7 9 0.56 intronic rs12410193 DDOST AR NM_005216 exon3 c.593+116T>G 0.283946 0.3661 Uncertain 1_20980406_G->A 1 20980406 20980406 G A snp 73.77 0/1 28 4 1 3 0.75 intronic rs139460438 DDOST AR NM_005216 exon4 c.1396+139G>A 0.00139776 0.0069 Uncertain 1_20980734_G->A 1 20980734 20980734 G A snp 499.77 0/1 99 44 25 19 0.43 exonic rs138061134 DDOST AR nonsynonymous SNV NM_005216 exon7 c.C827T p.A276V 0.00219649 0.0069 0.000407 0.0015 0.0063 0.28 T 1 D -0.527 T 0.763 T 0.202 P Pathogenic 1_20981806_G->A 1 20981806 20981806 G A snp 434.77 1/1 33 14 0 14 1.0 intronic rs592851 DDOST AR NM_005216 exon7 c.3061-126G>A 0.973043 1 Uncertain 1_20987873_G->C 1 20987873 20987873 G C snp 3749.77 1/1 99 142 0 142 1.0 exonic rs537816 DDOST AR nonsynonymous SNV NM_005216 exon1 c.C22G p.R8G 0.973043 1 0.974613 0.9925 1 1 T 0.0 P -0.922 T 0.0 T 0.0 T Pathogenic 1_20991273_G->A 1 20991273 20991273 G A snp 34.77 0/1 63 8 6 2 0.25 intronic rs56070322 KIF17 AU NM_001122819 exon1 c.179+18G>A 0.126198 0.127 0.149623 0.1712 0.1430 Uncertain 1_20992819_G->C 1 20992819 20992819 G C snp 1369.77 0/1 99 129 73 56 0.43 exonic rs631357 KIF17 AU nonsynonymous SNV NM_020816 exon14 c.C2799G p.D933E 0.704473 0.5536 0.790251 0.7523 0.5474 1 T 0.000 P -0.942 T 0.0 T 0.0 T Pathogenic 1_20992933_G->C 1 20992933 20992933 G C snp 389.77 1/1 30 10 0 10 1.0 intronic rs573268 KIF17 AU NM_001122819 exon2 c.1748+109G>C 0.973043 1 Uncertain 1_21016906_G->T 1 21016906 21016906 G T snp 700.77 1/1 51 24 0 24 1.0 intronic rs493018 KIF17 AU NM_001122819 exon9 c.25752+78G>T 0.633187 0.7639 Uncertain 1_21024743_G->A 1 21024743 21024743 G A snp 54.74 1/1 6 2 0 2 1.0 intronic rs521424 KIF17 AU NM_001122819 exon10 c.33795-128G>A 0.476637 0.4077 Uncertain 1_21031042_T->C 1 21031042 21031042 T C snp 3433.77 0/1 99 250 120 130 0.52 exonic rs2296225 KIF17 AU nonsynonymous SNV NM_020816 exon5 c.A1021G p.I341V 0.163738 0.2927 0.088267 0.1202 0.3173 0.05 T 0.998 P -1.086 T 0.084 T 0.094 T Pathogenic 1_21040079_C->A 1 21040079 21040079 C A snp 3748.77 1/1 99 137 0 137 1.0 intronic rs10799661 KIF17 AU NM_001122819 exon13 c.48972+31C>A 0.751797 0.8889 0.715967 0.7318 0.9116 Uncertain 1_21042094_G->A 1 21042094 21042094 G A snp 1366.77 0/1 99 121 60 61 0.5 exonic rs12046928 KIF17 AU synonymous SNV NM_020816 exon2 c.C270T p.Y90Y 0.280351 0.7232 0.113409 0.2013 0.7505 Uncertain 1_21042157_C->T 1 21042157 21042157 C T snp 1170.77 0/1 99 100 53 47 0.47 intronic rs61778523 KIF17 AU NM_001122819 exon14 c.51056+25C>T 0.066893 0.0883 0.047747 0.0725 0.0853 Uncertain 1_21042300_C->G 1 21042300 21042300 C G snp 227.84 1/1 18 7 0 7 1.0 intronic rs554111 KIF17 AU NM_001122819 exon14 c.51056+168C>G 0.711661 0.8879 Uncertain 1_21043790_T->C 1 21043790 21043790 T C snp 216.84 1/1 18 6 0 6 1.0 intronic rs519209 KIF17 AU NM_001287212 exon15 c.52765-51T>C 0.671126 0.8601 Uncertain 1_21043913_T->C 1 21043913 21043913 T C snp 3255.77 1/1 99 120 0 120 1.0 intronic rs604659 KIF17 AU NM_001122819 exon15 c.52892-55T>C 0.670727 0.8601 Uncertain 1_21043926_T->C 1 21043926 21043926 T C snp 3742.77 1/1 99 144 0 144 1.0 intronic rs604645 KIF17 AU NM_001122819 exon15 c.52892-42T>C 0.769369 0.8879 0.734639 0.7234 0.9027 Uncertain 1_21044074_C->T 1 21044074 21044074 C T snp 2892.77 0/1 99 247 112 135 0.55 exonic rs560896028 KIF17 AU synonymous SNV NM_020816 exon1 c.G126A p.P42P 0.000599042 0.003 0.0001 0.0019 Uncertain 1_21044161_A->G 1 21044161 21044161 A G snp 3648.77 1/1 99 132 0 132 1.0 exonic rs601329 KIF17 AU synonymous SNV NM_020816 exon1 c.T39C p.R13R 0.712061 0.8879 0.669573 0.7131 0.9048 Uncertain 1_21044219_A->C 1 21044219 21044219 A C snp 1353.77 1/1 99 47 0 47 1.0 UTR5 rs601392 KIF17 AU 0.92472 0.994 0.881990 0.8526 0.9994 Uncertain 1_21049518_C->T 1 21049518 21049518 C T snp 503.77 0/1 99 29 8 21 0.72 intronic rs12403580 SH2D5 AU NM_001103161 exon2 c.1124+110C>T 0.276158 0.7143 Uncertain 1_21050270_C->T 1 21050270 21050270 C T snp 657.77 0/1 99 53 22 31 0.58 intronic rs3753047 SH2D5 AU NM_001103161 exon3 c.1943+43C>T 0.136981 0.2996 0.054438 0.1253 0.3429 Uncertain 1_21050958_C->T 1 21050958 21050958 C T snp 3573.77 1/1 99 122 0 122 1.0 exonic rs592060 SH2D5 AU synonymous SNV NM_001103160 exon5 c.G309A p.Q103Q 0.879593 0.9802 0.820260 0.8054 0.9932 Uncertain 1_21051092_G->A 1 21051092 21051092 G A snp 730.77 0/1 99 55 24 31 0.56 exonic SH2D5 AU stopgain NM_001103160 exon5 c.C175T p.Q59X 0.57 T 1 A Pathogenic 1_21052693_G->T 1 21052693 21052693 G T snp 209.84 1/1 18 7 0 7 1.0 intronic rs10916852 SH2D5 AU NM_001103161 exon6 c.4275+134G>T 0.158347 0.0972 Uncertain 1_21053887_C->T 1 21053887 21053887 C T snp 1059.77 0/1 99 65 24 41 0.63 intronic rs10916853 SH2D5 AU NM_001103161 exon8 c.5731-128C>T 0.295527 0.7143 Uncertain 1_21071967_C->T 1 21071967 21071967 C T snp 1558.77 0/1 99 128 59 69 0.54 intronic rs2274119 HP1BP3 AU NM_016287 exon2 c.746-68C>T 0.136781 0.2946 Uncertain 1_21074221_T->C 1 21074221 21074221 T C snp 329.77 0/1 99 19 9 10 0.53 intronic rs76336624 HP1BP3 AU NM_016287 exon3 c.2859+73T>C 0.0662939 0.126 Uncertain 1_21099846_A->G 1 21099846 21099846 A G snp 193.77 0/1 99 15 6 9 0.6 intronic rs589755 HP1BP3 AU NM_016287 exon9 c.28654-97A>G 0.40635 0.1696 Uncertain 1_21143771_A->- 1 21143771 21143771 A - indel 153.8 1/1 18 7 0 7 1.0 intronic rs376814165 EIF4G3 AU NM_001198801 exon4 c.10073-113delA 0.999002 1 Uncertain 1_21143782_-->AT 1 21143782 21143782 - AT indel 405.27 1/1 1 11 2 9 0.82 intronic rs76848587 EIF4G3 AU NM_001198801 exon4 c.10073-102insAT 0.999002 1 Uncertain 1_21167404_A->G 1 21167404 21167404 A G snp 3035.77 1/1 99 107 0 107 1.0 exonic rs2230573 EIF4G3 AU synonymous SNV NM_003760 exon25 c.T3838C p.L1280L 0.9377 1 0.936875 0.9831 1 Uncertain 1_21175855_C->A 1 21175855 21175855 C A snp 323.78 1/1 27 10 0 10 1.0 intronic rs7525082 EIF4G3 AU NM_001198801 exon9 c.42096-52C>A 0.9373 1 Uncertain 1_21176042_A->C 1 21176042 21176042 A C snp 345.77 0/1 99 40 19 21 0.53 intronic rs74654140 EIF4G3 AU NM_001198801 exon9 c.42212+19A>C 0.0648962 0.125 0.0541 0.1235 Uncertain 1_21179969_G->A 1 21179969 21179969 G A snp 909.77 1/1 66 34 0 34 1.0 intronic rs7542882 EIF4G3 AU NM_001198801 exon11 c.46241-83G>A 0.9373 1 Uncertain 1_21180013_C->T 1 21180013 21180013 C T snp 515.77 0/1 99 50 27 23 0.46 intronic rs3767244 EIF4G3 AU NM_001198801 exon11 c.46241-39C>T 0.0654952 0.125 0.020683 0.0475 0.1125 Uncertain 1_21180181_C->T 1 21180181 21180181 C T snp 370.77 0/1 99 36 21 15 0.42 intronic rs2305463 EIF4G3 AU NM_001198801 exon11 c.46359+11C>T 0.572684 0.8313 0.503767 0.5765 0.8466 Uncertain 1_21180250_G->A 1 21180250 21180250 G A snp 76.77 0/1 99 11 6 5 0.45 intronic rs7543140 EIF4G3 AU NM_001198801 exon11 c.46359+80G>A 0.586262 0.8313 Uncertain 1_21181595_A->G 1 21181595 21181595 A G snp 805.77 0/1 99 53 22 31 0.58 intronic rs1463273 EIF4G3 AU NM_001198801 exon12 c.47753+31A>G 0.166334 0.3026 0.089882 0.1381 0.3471 Uncertain 1_21188703_A->T 1 21188703 21188703 A T snp 1023.77 0/1 99 179 125 54 0.3 intronic rs10916885 EIF4G3 AU NM_001198801 exon15 c.54909-17A>T 0.575679 0.8313 0.493388 0.5362 0.7865 Uncertain 1_21295864_C->T 1 21295864 21295864 C T snp 227.77 0/1 99 14 6 8 0.57 intronic rs2271115 EIF4G3 AU NM_001198803 exon4 c.28098-102C>T 0.317891 0.2302 Uncertain 1_21307734_A->- 1 21307734 21307734 A - indel 240.73 0/1 99 40 16 24 0.6 intronic rs199719743 EIF4G3 AU NM_001198803 exon7 c.39852+14delA 0.014146 0.0197 0.0706 Uncertain 1_21324191_A->C 1 21324191 21324191 A C snp 479.77 0/1 99 34 15 19 0.56 intronic rs41265977 EIF4G3 AU NM_001198803 exon8 c.56258+65A>C 0.0607029 0.1369 Uncertain 1_21325360_C->A 1 21325360 21325360 C A snp 649.77 0/1 99 53 23 30 0.57 intronic rs885363 EIF4G3 AU NM_001198803 exon8 c.56258+1234C>A 0.318291 0.2302 0.3826 0.2172 Uncertain 1_21326309_T->A 1 21326309 21326309 T A snp 1281.77 0/1 99 95 44 51 0.54 intronic rs181004405 EIF4G3 AU NM_001198803 exon8 c.56258+2183T>A 0.00159744 0.0079 Uncertain 1_21327637_C->T 1 21327637 21327637 C T snp 6100.77 1/1 99 218 0 218 1.0 intronic rs1395508 EIF4G3 AU NM_001198803 exon9 c.61337-1568C>T 0.9375 1 Uncertain 1_21329128_T->C 1 21329128 21329128 T C snp 2029.77 0/1 99 184 96 88 0.48 intronic rs2174689 EIF4G3 AU NM_001198803 exon9 c.61337-77T>C 0.0607029 0.1369 0.012265 Uncertain 1_21377314_C->T 1 21377314 21377314 C T snp 858.77 1/1 63 28 0 28 1.0 intronic rs6426663 EIF4G3 AU NM_001198803 exon10 c.109490-44C>T 0.936701 1 0.9914 1 Uncertain 1_21494634_C->T 1 21494634 21494634 C T snp 111.77 0/1 99 7 3 4 0.57 intronic rs61779121 EIF4G3 AU NM_001198803 exon13 c.226664+102C>T 0.317692 0.2312 Uncertain 1_21494635_G->A 1 21494635 21494635 G A snp 74.77 0/1 99 7 4 3 0.43 intronic rs74580828 EIF4G3 AU NM_001198803 exon13 c.226664+103G>A 0.150759 0.2371 Uncertain 1_21502724_-->GCC 1 21502724 21502724 - GCC indel 710.73 0/1 99 33 16 17 0.52 UTR5 rs769138453 EIF4G3 AU 0.0202 0 Uncertain 1_21548068_A->G 1 21548068 21548068 A G snp 167.77 0/1 99 25 18 7 0.28 intronic rs2076281 ECE1 AD,AO NM_001113347 exon2 c.1792-171A>G 0.134185 0.2292 Uncertain 1_21554319_A->G 1 21554319 21554319 A G snp 801.77 1/1 60 23 0 23 1.0 intronic rs6426676 ECE1 AD,AO NM_001113347 exon5 c.7976-104A>G 0.98742 0.999 Uncertain 1_21559940_C->T 1 21559940 21559940 C T snp 43.77 0/1 66 4 2 2 0.5 intronic rs182882667 ECE1 AD,AO NM_001113347 exon6 c.13603-110C>T 0.00179712 0.0079 Uncertain 1_21582425_C->T 1 21582425 21582425 C T snp 1770.77 0/1 99 145 76 69 0.48 intronic rs212522 ECE1 AD,AO NM_001113347 exon12 c.35992-14C>T 0.114617 0.1845 0.092803 0.1293 0.1636 Uncertain 1_21671943_T->G 1 21671943 21671943 T G snp 166.77 0/1 99 13 5 8 0.62 intergenic rs2072654 LOC100506801 AU 0.611022 0.4167 Uncertain 1_21751068_C->G 1 21751068 21751068 C G snp 202.8 1/1 21 9 0 9 1.0 intergenic rs71512975 LOC100506801 AU 0.879393 0.9911 Uncertain 1_21751142_A->G 1 21751142 21751142 A G snp 1526.77 0/1 99 105 43 62 0.59 intergenic rs150916531 LOC100506801 AU Uncertain 1_21751214_G->A 1 21751214 21751214 G A snp 3709.77 0/1 99 250 102 148 0.59 intergenic rs4291472 LOC100506801 AU Uncertain 1_21752682_G->A 1 21752682 21752682 G A snp 447.77 0/1 99 72 45 27 0.38 intergenic rs2316503 LOC100506801 AU Uncertain 1_21752766_A->G 1 21752766 21752766 A G snp 682.77 0/1 99 116 77 39 0.34 intergenic rs3928620 LOC100506801 AU Uncertain 1_21752782_T->G 1 21752782 21752782 T G snp 641.77 0/1 99 112 75 37 0.33 intergenic rs140348908 LOC100506801 AU Uncertain 1_21752830_C->T 1 21752830 21752830 C T snp 376.77 0/1 99 64 42 22 0.34 intergenic rs139145324 LOC100506801 AU Uncertain 1_21752882_A->G 1 21752882 21752882 A G snp 61.28 1/1 9 10 0 10 1.0 intergenic rs200097127 LOC100506801 AU Uncertain 1_21753562_A->C 1 21753562 21753562 A C snp 303.78 1/1 24 21 0 21 1.0 intergenic rs146549873 LOC100506801 AU Uncertain 1_21754874_G->C 1 21754874 21754874 G C snp 301.77 0/1 99 31 17 14 0.45 intergenic rs190943762 LOC100506801 AU 0.0239617 0.1131 Uncertain 1_21754996_C->T 1 21754996 21754996 C T snp 689.77 1/1 51 33 0 33 1.0 intergenic rs12024079 LOC100506801 AU 0.873003 1 Uncertain 1_21755055_C->A 1 21755055 21755055 C A snp 333.77 1/1 30 37 13 24 0.65 intergenic rs12024104 LOC100506801 AU 0.683107 0.8373 Uncertain 1_21755135_T->G 1 21755135 21755135 T G snp 129.03 1/1 12 39 17 22 0.56 intergenic rs41302024 LOC100506801 AU 0.475839 0.756 Uncertain 1_21755347_C->T 1 21755347 21755347 C T snp 1136.77 1/1 84 34 0 34 1.0 intergenic rs41310392 LOC100506801 AU 0.476038 0.756 Uncertain 1_21755453_G->A 1 21755453 21755453 G A snp 222.84 1/1 18 10 1 9 0.9 intergenic rs3856177 LOC100506801 AU Uncertain 1_21755539_C->A 1 21755539 21755539 C A snp 201.84 1/1 18 38 18 20 0.53 intergenic rs3855556 LOC100506801 AU 0.687899 0.8383 Uncertain 1_21755756_G->C 1 21755756 21755756 G C snp 3549.77 1/1 99 141 1 140 0.99 intergenic rs56343055 LOC100506801 AU 0.688498 0.8393 Uncertain 1_21755867_A->G 1 21755867 21755867 A G snp 3133.77 1/1 99 110 0 110 1.0 intergenic rs7522332 LOC100506801 AU 0.688498 0.8393 Uncertain 1_21755906_G->A 1 21755906 21755906 G A snp 2212.77 1/1 99 86 0 86 1.0 intergenic rs3738922 LOC100506801 AU 0.688498 0.8393 Uncertain 1_21756008_G->T 1 21756008 21756008 G T snp 668.77 1/1 51 22 0 22 1.0 intergenic rs3894725 LOC100506801 AU 0.688698 0.8403 Uncertain 1_21756069_G->A 1 21756069 21756069 G A snp 209.84 1/1 18 9 0 9 1.0 intergenic rs7532750 LOC100506801 AU 0.688698 0.8403 Uncertain 1_21795388_A->G 1 21795388 21795388 A G snp 1029.77 0/1 99 94 43 51 0.54 exonic rs1827293 NBPF3 AU nonsynonymous SNV NM_001256416 exon3 c.A341G p.Y114C 0.423922 0.5804 0.440258 0.5182 0.5618 0 D 0.0 P -0.903 T 1.0 D 0.998 D Pathogenic 1_21799489_T->C 1 21799489 21799489 T C snp 329.77 0/1 99 40 24 16 0.4 intronic rs1971327 NBPF3 AU NM_032264 exon6 c.27829+81T>C 0.749601 0.8125 Uncertain 1_21799823_A->G 1 21799823 21799823 A G snp 278.77 0/1 99 23 13 10 0.43 intronic rs1971328 NBPF3 AU NM_032264 exon7 c.28293-49A>G 0.70647 0.8125 0.643549 0.7400 0.8084 Uncertain 1_21800185_T->G 1 21800185 21800185 T G snp 335.77 0/1 99 25 12 13 0.52 intronic rs7520015 NBPF3 AU NM_032264 exon7 c.28499+107T>G 0.749601 0.8125 Uncertain 1_21800219_C->T 1 21800219 21800219 C T snp 116.77 0/1 99 9 5 4 0.44 intronic rs10916996 NBPF3 AU NM_032264 exon7 c.28499+141C>T 0.70647 0.8125 Uncertain 1_21801346_G->A 1 21801346 21801346 G A snp 405.77 0/1 99 29 14 15 0.52 intronic rs7531217 NBPF3 AU NM_032264 exon8 c.29813-46G>A 0.749601 0.8125 0.708596 0.7819 0.8079 Uncertain 1_21804815_T->G 1 21804815 21804815 T G snp 754.77 1/1 54 29 0 29 1.0 intronic rs7535654 NBPF3 AU NM_032264 exon9 c.33221+15T>G 0.942093 1 0.935953 0.9820 1 Uncertain 1_21805730_A->G 1 21805730 21805730 A G snp 300.77 0/1 99 27 13 14 0.52 intronic rs2316504 NBPF3 AU NM_032264 exon10 c.34262-111A>G 0.7498 0.8135 Uncertain 1_21805978_G->A 1 21805978 21805978 G A snp 74.77 0/1 99 9 6 3 0.33 intronic rs4654948 NBPF3 AU NM_032264 exon10 c.34314+85G>A 0.749201 0.8125 Uncertain 1_21808159_G->A 1 21808159 21808159 G A snp 728.77 0/1 99 224 176 48 0.21 exonic rs71512991 NBPF3 AU synonymous SNV NM_001256417 exon12 c.G1293A p.S431S 0.467053 0.4871 0.4913 0.5062 Uncertain 1_21808207_A->C 1 21808207 21808207 A C snp 490.77 0/1 99 183 148 35 0.19 exonic rs146564096 NBPF3 AU synonymous SNV NM_001256417 exon12 c.A1341C p.G447G 0.4490 0.4705 Uncertain 1_21808223_T->C 1 21808223 21808223 T C snp 342.77 0/1 99 149 119 30 0.2 exonic rs145079058 NBPF3 AU synonymous SNV NM_001256417 exon12 c.T1357C p.L453L 0.4252 0.4339 Uncertain 1_21809750_T->C 1 21809750 21809750 T C snp 281.77 0/1 99 153 138 15 0.1 exonic rs202069483 NBPF3 AU synonymous SNV NM_001256417 exon14 c.T1563C p.Y521Y 0.7113 0.7381 Uncertain 1_21809924_G->C 1 21809924 21809924 G C snp 35.74 1/1 6 2 0 2 1.0 UTR3 rs1966022 NBPF3 AU 0.992212 0.999 0.9921 1 Uncertain 1_21889635_T->C 1 21889635 21889635 T C snp 2498.77 1/1 99 91 0 91 1.0 exonic rs1780316 ALPL AR,AD synonymous SNV NM_000478 exon5 c.T330C p.S110S 0.929513 0.9821 0.921728 0.9450 0.9878 Uncertain 1_21890464_A->G 1 21890464 21890464 A G snp 1299.77 1/1 96 41 0 41 1.0 intronic rs1767428 ALPL AR,AD NM_001177520 exon4 c.3361-69A>G 0.986422 1 Uncertain 1_21894735_T->C 1 21894735 21894735 T C snp 1168.77 0/1 99 97 46 51 0.53 exonic rs3200254 ALPL AR,AD nonsynonymous SNV NM_000478 exon7 c.T787C p.Y263H 0.266973 0.4534 0.158773 0.1791 0.4525 0.6 T 0.0 P -0.974 T 0.0 T 0.004 T ID=CM980072;DIS=Hypophosphatasia, association with;TAG=DFP;PUB=9781036 DFP Pathogenic 1_21894785_G->T 1 21894785 21894785 G T snp 670.77 0/1 99 39 14 25 0.64 intronic rs3738098 ALPL AR,AD NM_001177520 exon5 c.7568+45G>T 0.183307 0.4534 0.050900 0.1261 0.4499 Uncertain 1_21894816_T->C 1 21894816 21894816 T C snp 112.77 0/1 99 12 7 5 0.42 intronic rs3738097 ALPL AR,AD NM_001177520 exon5 c.7568+76T>C 0.267173 0.4534 Uncertain 1_21896887_G->T 1 21896887 21896887 G T snp 1104.77 0/1 99 91 43 48 0.53 intronic rs2275377 ALPL AR,AD NM_001177520 exon6 c.9695+20G>T 0.267572 0.4544 0.158696 0.1781 0.4480 Uncertain 1_21896918_G->A 1 21896918 21896918 G A snp 475.77 0/1 99 47 29 18 0.38 intronic rs2275376 ALPL AR,AD NM_001177520 exon6 c.9695+51G>A 0.26857 0.4544 0.159926 0.1756 0.4404 Uncertain 1_21896925_C->T 1 21896925 21896925 C T snp 342.77 0/1 99 33 21 12 0.36 intronic rs2275375 ALPL AR,AD NM_001177520 exon6 c.9695+58C>T 0.323083 0.4702 0.238283 Uncertain 1_21900112_G->A 1 21900112 21900112 G A snp 207.77 0/1 99 26 18 8 0.31 intronic rs74063110 ALPL AR,AD NM_001177520 exon7 c.12985-45G>A 0.271765 0.4484 0.157158 0.1672 0.4142 Uncertain 1_21900146_C->G 1 21900146 21900146 C G snp 372.77 0/1 99 51 35 16 0.31 intronic rs75829132 ALPL AR,AD NM_001177520 exon7 c.12985-11C>G 0.271765 0.4484 0.148393 0.1779 0.4285 Uncertain 1_21900151_T->C 1 21900151 21900151 T C snp 383.77 0/1 99 56 39 17 0.3 intronic rs74063111 ALPL AR,AD NM_001177520 exon7 c.12985-6T>C 0.257987 0.4484 0.130478 0.1721 0.4291 Uncertain 1_21900171_A->G 1 21900171 21900171 A G snp 575.77 0/1 99 78 50 28 0.36 exonic rs3200255 ALPL AR,AD synonymous SNV NM_000478 exon9 c.A876G p.P292P 0.271565 0.4474 0.162310 0.1803 0.4385 Uncertain 1_21900396_A->C 1 21900396 21900396 A C snp 395.77 0/1 99 36 21 15 0.42 intronic rs2275372 ALPL AR,AD NM_001177520 exon7 c.13120+104A>C 0.271765 0.4484 Uncertain 1_21900397_G->T 1 21900397 21900397 G T snp 329.77 0/1 99 34 20 14 0.41 intronic rs2275371 ALPL AR,AD NM_001177520 exon7 c.13120+105G>T 0.271765 0.4484 Uncertain 1_21900420_A->G 1 21900420 21900420 A G snp 653.77 1/1 48 22 0 22 1.0 intronic rs2275370 ALPL AR,AD NM_001177520 exon7 c.13120+128A>G 0.753395 0.7887 Uncertain 1_21900444_A->G 1 21900444 21900444 A G snp 255.77 0/1 99 15 7 8 0.53 intronic rs2275369 ALPL AR,AD NM_001177520 exon7 c.13120+152A>G 0.271965 0.4484 Uncertain 1_21902950_C->A 1 21902950 21902950 C A snp 256.77 0/1 99 14 6 8 0.57 intronic rs1780329 ALPL AR,AD NM_001177520 exon9 c.15842-64C>A 0.322684 0.4673 Uncertain 1_21903180_C->T 1 21903180 21903180 C T snp 1702.77 0/1 99 155 77 78 0.5 intronic rs4654760 ALPL AR,AD NM_001177520 exon9 c.15962+46C>T 0.179912 0.4444 0.050515 0.1240 0.4573 Uncertain 1_21925108_T->C 1 21925108 21925108 T C snp 139.03 1/1 12 4 0 4 1.0 intronic rs2794278 RAP1GAP AU NM_001145658 exon4 c.783+113T>C 0.933107 0.9812 Uncertain 1_21926187_C->T 1 21926187 21926187 C T snp 122.77 0/1 67 7 3 4 0.57 intronic rs1767445 RAP1GAP AU NM_001145658 exon5 c.1898+77C>T 0.540735 0.7044 Uncertain 1_21928344_C->G 1 21928344 21928344 C G snp 1243.77 1/1 90 38 0 38 1.0 intronic rs2275366 RAP1GAP AU NM_001145658 exon6 c.4078+54C>G 0.387181 0.5853 Uncertain 1_21929260_A->G 1 21929260 21929260 A G snp 3520.77 1/1 99 131 0 131 1.0 intronic rs829368 RAP1GAP AU NM_001145658 exon7 c.5084-36A>G 0.932308 0.9802 0.909783 0.9109 0.9716 Uncertain 1_21929457_C->- 1 21929457 21929457 C - indel 266.73 0/1 99 25 11 14 0.56 intronic rs3215988 RAP1GAP AU NM_001145658 exon7 c.5194+51delC 0.739816 0.7083 0.7576 0.6907 Uncertain 1_21930542_C->T 1 21930542 21930542 C T snp 373.77 0/1 99 22 9 13 0.59 intronic rs3767111 RAP1GAP AU NM_001145657 exon8 c.6193+137C>T 0.270367 0.2639 Uncertain 1_21932530_C->A 1 21932530 21932530 C A snp 1093.77 1/1 81 37 0 37 1.0 intronic rs1767443 RAP1GAP AU NM_001145658 exon8 c.8346-28C>A 0.796326 0.9484 0.776898 0.8275 0.9711 Uncertain 1_21932625_G->A 1 21932625 21932625 G A snp 1027.77 0/1 99 80 38 42 0.53 exonic rs2275365 RAP1GAP AU synonymous SNV NM_001145658 exon18 c.C1554T p.T518T 0.140575 0.2401 0.085529 0.1991 0.3124 Uncertain 1_21934678_C->G 1 21934678 21934678 C G snp 1259.77 0/1 99 124 67 57 0.46 intronic rs3736386 RAP1GAP AU NM_001145658 exon9 c.10493-27C>G 0.0175719 0.0546 0.007229 0.0125 0.0527 Uncertain 1_21935433_G->T 1 21935433 21935433 G T snp 1009.77 0/1 99 92 48 44 0.48 splicing rs861212 RAP1GAP AU NM_001145658 exon10 c.11217+4G>T 0.454673 0.6518 0.415270 0.4894 0.6499 Pathogenic 1_21935885_A->- 1 21935885 21935885 A - indel 64 1/1 12 5 0 5 1.0 intronic rs34097078 RAP1GAP AU NM_001145658 exon11 c.11855-182delA Uncertain 1_21939741_G->C 1 21939741 21939741 G C snp 2477.77 1/1 99 79 0 79 1.0 intronic rs1256282 RAP1GAP AU NM_001145658 exon16 c.15510+19G>C 0.48103 0.5357 0.427803 0.4675 0.5501 Uncertain 1_21943820_G->A 1 21943820 21943820 G A snp 1716.77 1/1 99 60 0 60 1.0 exonic rs2275360 RAP1GAP AU synonymous SNV NM_001145658 exon7 c.C462T p.Y154Y 0.326078 0.5298 0.235403 0.4005 0.6099 Uncertain 1_21946396_T->C 1 21946396 21946396 T C snp 394.77 0/1 99 25 11 14 0.56 intronic rs12134357 RAP1GAP AU NM_001145658 exon22 c.22295-111T>C 0.321286 0.3681 Uncertain 1_21946415_G->A 1 21946415 21946415 G A snp 1362.77 1/1 99 41 0 41 1.0 intronic rs1681255 RAP1GAP AU NM_001145658 exon22 c.22295-92G>A 0.807109 0.9802 Uncertain 1_21953287_G->A 1 21953287 21953287 G A snp 3230.05 0/1 99 250 114 136 0.54 intronic rs7354914 RAP1GAP AU NM_001145658 exon23 c.28678+397G>A 0.154752 0.2341 Uncertain 1_21953304_G->A 1 21953304 21953304 G A snp 3287.77 0/1 99 250 122 128 0.51 intronic rs1531829 RAP1GAP AU NM_001145658 exon23 c.28678+414G>A 0.387181 0.5377 Uncertain 1_21953436_A->G 1 21953436 21953436 A G snp 7984.77 1/1 99 250 0 250 1.0 intronic rs829412 RAP1GAP AU NM_001145658 exon23 c.28678+546A>G 0.863818 0.9792 0.8739 0.98 Uncertain 1_21961338_G->A 1 21961338 21961338 G A snp 1594.77 0/1 99 156 86 70 0.45 intronic rs12045185 RAP1GAP AU NM_001145658 exon23 c.28678+8448G>A 0.138978 0.2292 Uncertain 1_21961339_A->T 1 21961339 21961339 A T snp 4285.77 1/1 99 155 0 155 1.0 intronic rs10799706 RAP1GAP AU NM_001145658 exon23 c.28678+8449A>T 0.994808 1 Uncertain 1_21978465_G->A 1 21978465 21978465 G A snp 46.77 0/1 73 6 3 3 0.5 intronic rs181939530 RAP1GAP AU NM_001145658 exon25 c.54136+117G>A 0.170927 0.2639 Uncertain 1_22013561_C->A 1 22013561 22013561 C A snp 475.77 1/1 36 15 0 15 1.0 intronic rs829420 USP48 AU NM_032236 exon3 c.7774-122C>A 0.672125 0.6587 Uncertain 1_22013771_G->A 1 22013771 22013771 G A snp 3194.83 1/1 99 124 1 123 0.99 intronic rs10493008 USP48 AU NM_032236 exon3 c.7823+39G>A 0.478435 0.6359 0.408504 0.5060 0.6832 Uncertain 1_22016719_T->C 1 22016719 22016719 T C snp 99.28 1/1 9 3 0 3 1.0 intronic rs1618590 USP48 AU NM_032236 exon4 c.10683+127T>C 0.977236 0.9435 Uncertain 1_22032472_-->T 1 22032472 22032472 - T indel 486.73 1/1 39 13 0 13 1.0 intronic rs11426922 USP48 AU NM_032236 exon9 c.26421+142insT Uncertain 1_22050649_C->A 1 22050649 22050649 C A snp 3828.77 1/1 99 130 1 129 0.99 intronic rs2275668 USP48 AU NM_032236 exon16 c.44679+61C>A 0.688099 0.6587 0.7716 0.7072 0.0 P -1.019 T Uncertain 1_22063149_G->A 1 22063149 22063149 G A snp 1448.77 1/1 99 54 0 54 1.0 intronic rs10753517 USP48 AU NM_001032730 exon3 c.8064+31G>A 0.586062 0.6567 0.580424 0.6604 0.6835 Uncertain 1_22082923_G->A 1 22082923 22082923 G A snp 505.77 1/1 39 13 0 13 1.0 intronic rs10458384 USP48 AU NM_001032730 exon9 c.27984-115G>A 0.672724 0.6657 Uncertain 1_22082968_A->- 1 22082968 22082968 A - indel 237.73 0/1 13 30 6 24 0.8 intronic rs35545280 USP48 AU NM_001032730 exon9 c.27984-70delA 0.598243 0.6081 Uncertain 1_22109370_G->A 1 22109370 22109370 G A snp 2418.77 1/1 99 95 0 95 1.0 exonic rs10917042 USP48 AU synonymous SNV NM_001032730 exon1 c.C81T p.H27H 0.281749 0.5893 0.166277 0.3638 0.6977 Uncertain 1_22141206_A->C 1 22141206 22141206 A C snp 3016.77 1/1 99 107 0 107 1.0 exonic rs10917051 LDLRAD2 AU nonsynonymous SNV NM_001013693 exon2 c.A401C p.N134T 0.612819 0.6319 0.635016 0.6910 0.6905 1 T 0.001 P -0.937 T 0.0 T 0.0 T Pathogenic 1_22147764_A->G 1 22147764 22147764 A G snp 49.77 0/1 33 4 1 3 0.75 intronic rs6684152 LDLRAD2 AU NM_001013693 exon4 c.8998-178A>G 0.366613 0.1587 Uncertain 1_22148164_G->A 1 22148164 22148164 G A snp 407.77 0/1 99 45 30 15 0.33 intronic rs6695528 LDLRAD2 AU NM_001013693 exon4 c.9160+60G>A 0.295527 0.1577 Uncertain 1_22149935_T->C 1 22149935 22149935 T C snp 5249.77 1/1 99 197 0 197 1.0 exonic rs897467 HSPG2 AR synonymous SNV NM_005529 exon97 c.A13050G p.S4350S 0.780351 0.8155 0.792328 0.8204 0.8206 Uncertain 1_22150120_C->T 1 22150120 22150120 C T snp 1416.77 0/1 99 136 71 65 0.48 exonic rs3736360 HSPG2 AR nonsynonymous SNV NM_005529 exon96 c.G12992A p.S4331N 0.176118 0.1567 0.145933 0.1849 0.1612 0.76 T 0.103 P -1.106 T 0.001 T 0.004 T Pathogenic 1_22150160_G->T 1 22150160 22150160 G T snp 1365.77 0/1 99 127 61 66 0.52 exonic rs3736358 HSPG2 AR synonymous SNV NM_005529 exon96 c.C12952A p.R4318R 0.129556 0.1808 0.1613 Uncertain 1_22150257_C->T 1 22150257 22150257 C T snp 656.77 0/1 99 39 15 24 0.62 UTR3 rs3736357 LDLRAD2 AU 0.3752 0.6488 0.374500 0.4593 0.6513 Uncertain 1_22154845_A->G 1 22154845 22154845 A G snp 3089.77 0/1 99 238 110 128 0.54 exonic rs2228347 HSPG2 AR synonymous SNV NM_005529 exon89 c.T12312C p.D4104D 0.257188 0.1577 0.252345 0.2982 0.1607 Uncertain 1_22154987_G->A 1 22154987 22154987 G A snp 537.77 0/1 99 45 25 20 0.44 intronic rs10917052 HSPG2 AR NM_005529 exon9 c.5111+68G>A 0.2498 0.1558 Uncertain 1_22155723_T->C 1 22155723 22155723 T C snp 139.03 1/1 12 4 0 4 1.0 intronic rs7518070 HSPG2 AR NM_005529 exon10 c.5764+151T>C 0.763379 0.8056 Uncertain 1_22155841_T->C 1 22155841 22155841 T C snp 1060.77 0/1 99 96 48 48 0.5 intronic rs12042189 HSPG2 AR NM_005529 exon11 c.6067-34T>C 0.15635 0.1558 0.130632 0.1821 0.1607 Uncertain 1_22155853_C->T 1 22155853 22155853 C T snp 1169.77 0/1 99 111 56 55 0.5 intronic rs12023794 HSPG2 AR NM_005529 exon11 c.6067-22C>T 0.171526 0.1617 0.145318 0.1847 0.1674 Uncertain 1_22157689_G->A 1 22157689 22157689 G A snp 7429.77 1/1 99 250 0 250 1.0 intronic rs3736355 HSPG2 AR NM_005529 exon14 c.7899-18G>A 0.759185 0.8046 0.769840 0.7923 0.8061 Uncertain 1_22158120_G->T 1 22158120 22158120 G T snp 1328.77 0/1 99 137 75 62 0.45 intronic rs2270701 HSPG2 AR NM_005529 exon16 c.8336-24G>T 0.165136 0.1567 0.137783 0.1950 0.1723 Uncertain 1_22159008_C->A 1 22159008 22159008 C A snp 1082.77 0/1 99 101 58 43 0.43 exonic rs2229487 HSPG2 AR synonymous SNV NM_005529 exon81 c.G11187T p.V3729V 0.157748 0.1567 0.132477 0.1731 0.1621 Uncertain 1_22160111_C->T 1 22160111 22160111 C T snp 918.77 0/1 99 96 61 35 0.36 splicing rs17459139 HSPG2 AR NM_005529 exon19 c.10299+4C>T 0.164137 0.1577 0.132939 0.1757 0.1629 Pathogenic 1_22160148_C->T 1 22160148 22160148 C T snp 833.77 0/1 99 54 21 33 0.61 intronic rs7547731 HSPG2 AR NM_005529 exon19 c.10299+41C>T 0.375 0.6478 0.374154 0.4552 0.6478 Uncertain 1_22161275_G->A 1 22161275 22161275 G A snp 2759.77 0/1 99 250 146 104 0.42 exonic rs2229492 HSPG2 AR synonymous SNV NM_005529 exon77 c.C10617T p.V3539V 0.159545 0.1577 0.133246 0.1748 0.1622 Uncertain 1_22165901_A->G 1 22165901 22165901 A G snp 3126.77 0/1 99 250 115 135 0.54 exonic rs2291826 HSPG2 AR synonymous SNV NM_005529 exon73 c.T9852C p.A3284A 0.346046 0.1587 0.349915 0.2876 0.1621 Uncertain 1_22165987_G->A 1 22165987 22165987 G A snp 3078.77 0/1 99 250 124 126 0.5 exonic rs2291827 HSPG2 AR nonsynonymous SNV NM_005529 exon73 c.C9766T p.H3256Y 0.152157 0.1577 0.124635 0.1728 0.1616 1 T 1.000 P -1.097 T 0.387 T 0.194 T Pathogenic 1_22167785_G->A 1 22167785 22167785 G A snp 2311.77 0/1 99 192 98 94 0.49 intronic rs2270695 HSPG2 AR NM_005529 exon27 c.17970+7G>A 0.0573083 0.1994 0.008150 0.0333 0.2049 Uncertain 1_22167786_G->A 1 22167786 22167786 G A snp 2271.77 0/1 99 192 98 94 0.49 intronic rs2270696 HSPG2 AR NM_005529 exon27 c.17970+8G>A 0.0573083 0.1994 0.008150 0.0333 0.2048 Uncertain 1_22167988_G->T 1 22167988 22167988 G T snp 2029.77 0/1 99 223 130 93 0.42 intronic rs2270697 HSPG2 AR NM_005529 exon28 c.18223-43G>T 0.152756 0.1607 0.125404 0.1734 0.1720 Uncertain 1_22168216_C->T 1 22168216 22168216 C T snp 2434.77 1/1 99 78 1 77 0.99 intronic rs7556412 HSPG2 AR NM_005529 exon28 c.18358+50C>T 0.623802 0.8075 0.607104 0.6516 0.8165 Uncertain 1_22168310_A->G 1 22168310 22168310 A G snp 40.77 0/1 33 3 1 2 0.67 intronic rs12043008 HSPG2 AR NM_005529 exon28 c.18358+144A>G 0.269569 0.1607 Uncertain 1_22170828_C->G 1 22170828 22170828 C G snp 422.77 0/1 99 42 21 21 0.5 intronic rs2270698 HSPG2 AR NM_005529 exon33 c.20984+36C>G 0.157947 0.1607 0.125462 0.1758 0.1726 Uncertain 1_22173762_G->A 1 22173762 22173762 G A snp 1560.77 0/1 99 136 70 66 0.49 intronic rs12023884 HSPG2 AR NM_005529 exon36 c.24038-84G>A 0.152955 0.1607 Uncertain 1_22174426_T->G 1 22174426 22174426 T G snp 3084.77 0/1 99 245 117 128 0.52 intronic rs2290501 HSPG2 AR NM_005529 exon38 c.24642-24T>G 0.3748 0.1617 0.384669 0.3372 0.1720 0.0 P -0.929 T Uncertain 1_22174600_A->G 1 22174600 22174600 A G snp 2116.77 1/1 99 72 1 71 0.99 intronic rs3767138 HSPG2 AR NM_005529 exon38 c.24778+14A>G 0.761981 0.8085 0.783865 0.8116 0.8316 Uncertain 1_22176831_C->T 1 22176831 22176831 C T snp 1121.77 0/1 99 80 38 42 0.53 intronic rs2290500 HSPG2 AR NM_005529 exon42 c.27047-24C>T 0.194888 0.1736 0.161661 0.2057 0.2000 Uncertain 1_22179673_T->C 1 22179673 22179673 T C snp 1154.77 0/1 99 75 36 39 0.52 intronic rs12049614 HSPG2 AR NM_005529 exon47 c.29755+110T>C 0.377796 0.6389 Uncertain 1_22180254_T->A 1 22180254 22180254 T A snp 59.74 1/1 6 3 0 3 1.0 intronic rs748834607 HSPG2 AR NM_005529 exon48 c.30877-431T>A 0.0008 0 Uncertain 1_22180548_T->C 1 22180548 22180548 T C snp 1422.77 0/1 99 143 77 66 0.46 intronic rs12117402 HSPG2 AR NM_005529 exon48 c.30877-137T>C 0.676118 0.62 Uncertain 1_22182173_C->T 1 22182173 22182173 C T snp 1899.77 0/1 99 157 74 83 0.53 splicing rs2290498 HSPG2 AR NM_005529 exon52 c.32360+5C>T 0.052516 0.1915 0.002929 0.0425 0.25 Pathogenic 1_22183471_A->C 1 22183471 22183471 A C snp 4179.77 1/1 99 146 0 146 1.0 intronic rs12024579 HSPG2 AR NM_005529 exon54 c.33699-36A>C 0.749002 0.8095 0.764878 0.7910 0.8154 Uncertain 1_22186234_A->G 1 22186234 22186234 A G snp 2039.77 1/1 99 61 0 61 1.0 intronic rs10917056 HSPG2 AR NM_005529 exon56 c.36361+65A>G 0.929313 0.9712 Uncertain 1_22191454_G->A 1 22191454 22191454 G A snp 1619.77 0/1 99 118 53 65 0.55 exonic rs897471 HSPG2 AR nonsynonymous SNV NM_005529 exon36 c.C4508T p.A1503V 0.691494 0.8889 0.699136 0.7463 0.9042 0.07 T 0.001 P -1.100 T 1.0 D 0.997 D Pathogenic 1_22199081_A->T 1 22199081 22199081 A T snp 504.77 1/1 39 17 0 17 1.0 intronic rs2501266 HSPG2 AR NM_005529 exon66 c.49304-31A>T 0.979832 1 0.982729 0.9936 1 Uncertain 1_22199245_C->T 1 22199245 22199245 C T snp 1896.77 1/1 99 72 0 72 1.0 exonic rs2229482 HSPG2 AR synonymous SNV NM_005529 exon32 c.G3897A p.V1299V 0.42492 0.4058 0.524692 0.6066 0.5027 Uncertain 1_22199821_G->A 1 22199821 22199821 G A snp 3373.77 1/1 99 127 0 127 1.0 intronic rs2454290 HSPG2 AR NM_005529 exon68 c.50059-46G>A 0.742013 0.9722 0.733277 0.8192 0.9776 Uncertain 1_22200067_A->G 1 22200067 22200067 A G snp 609.77 0/1 99 45 25 20 0.44 intronic rs2247741 HSPG2 AR NM_005529 exon68 c.50109+150A>G 0.388578 0.2133 Uncertain 1_22200082_T->C 1 22200082 22200082 T C snp 1078.77 1/1 81 32 0 32 1.0 intronic rs2445136 HSPG2 AR NM_005529 exon68 c.50109+165T>C 0.977636 1 Uncertain 1_22200835_C->G 1 22200835 22200835 C G snp 96.28 1/1 9 3 0 3 1.0 intronic rs2445135 HSPG2 AR NM_005529 exon70 c.51090-63C>G 0.978235 1 Uncertain 1_22202109_C->T 1 22202109 22202109 C T snp 1881.77 1/1 99 65 0 65 1.0 intronic rs2501265 HSPG2 AR NM_005529 exon73 c.52313-12C>T 0.942292 1 0.940873 0.9837 1 Uncertain 1_22203259_A->G 1 22203259 22203259 A G snp 1776.77 1/1 99 48 0 48 1.0 intronic rs2454295 HSPG2 AR NM_005529 exon76 c.53337+114A>G 0.451677 0.3522 Uncertain 1_22205408_T->C 1 22205408 22205408 T C snp 334.78 1/1 27 9 0 9 1.0 intronic rs2454294 HSPG2 AR NM_005529 exon80 c.55678-78T>C 0.973642 1 Uncertain 1_22205466_T->C 1 22205466 22205466 T C snp 1435.77 1/1 99 41 0 41 1.0 intronic rs2454293 HSPG2 AR NM_005529 exon80 c.55678-20T>C 0.959465 1 0.961840 0.9878 0.9974 Uncertain 1_22206649_T->C 1 22206649 22206649 T C snp 4218.77 1/1 99 142 0 142 1.0 exonic rs989994 HSPG2 AR nonsynonymous SNV NM_005529 exon17 c.A2294G p.N765S 0.929912 1 0.935184 0.9811 1 0.24 T 0.998 P -0.967 T 0.003 T 0.016 T Pathogenic 1_22206942_G->A 1 22206942 22206942 G A snp 5553.77 1/1 99 204 0 204 1.0 exonic rs1874793 HSPG2 AR synonymous SNV NM_005529 exon16 c.C2109T p.A703A 0.929912 1 0.935184 0.9812 1 Uncertain 1_22207235_T->C 1 22207235 22207235 T C snp 2223.77 1/1 99 71 0 71 1.0 exonic rs1874792 HSPG2 AR nonsynonymous SNV NM_005529 exon15 c.A1912G p.M638V 0.973642 1 0.975659 0.9931 1 1 T 0.000 P -0.979 T 0.0 T 0.0 T Pathogenic 1_22207805_CCCAGGGTGGCAG->- 1 22207805 22207817 CCCAGGGTGGCAG - indel 15505.7 1/1 99 105 0 105 1.0 intronic rs139046040 HSPG2 AR NM_005529 exon84 c.58023-26_58023-14delCCCAGGGTGGCAG 0.959665 1 0.955495 0.9888 0.9999 Uncertain 1_22208030_C->T 1 22208030 22208030 C T snp 621.77 1/1 48 17 0 17 1.0 intronic rs921847 HSPG2 AR NM_005529 exon84 c.58187+35C>T 0.925919 1 0.926880 0.9688 1 Uncertain 1_22211222_T->C 1 22211222 22211222 T C snp 6288.77 1/1 99 230 0 230 1.0 intronic rs4654994 HSPG2 AR NM_005529 exon86 c.61451-37T>C 0.896366 0.9583 0.906529 0.9126 0.9639 Uncertain 1_22215088_T->C 1 22215088 22215088 T C snp 1572.77 1/1 99 59 0 59 1.0 intronic rs2445140 HSPG2 AR NM_005529 exon91 c.64751+529T>C 0.979233 1 Uncertain 1_22216574_C->A 1 22216574 22216574 C A snp 3013.77 1/1 99 113 1 112 0.99 exonic rs2254358 HSPG2 AR synonymous SNV NM_005529 exon6 c.G474T p.G158G 0.444489 0.3522 0.550284 0.5769 0.3736 0.24 T 0.002 P -0.960 T 0.617 T 0.226 P Likely benign 1_22216604_C->G 1 22216604 22216604 C G snp 2612.77 1/1 99 97 0 97 1.0 exonic rs2254357 HSPG2 AR synonymous SNV NM_005529 exon6 c.G444C p.L148L 0.444489 0.3522 0.550361 0.5770 0.3732 0.91 T 1.0 P -1.050 T 0.946 T 0.509 D Likely benign 1_22217108_G->A 1 22217108 22217108 G A snp 3786.77 1/1 99 135 0 135 1.0 exonic rs2501260 HSPG2 AR synonymous SNV NM_005529 exon4 c.C324T p.F108F 0.948083 1 0.953791 0.9861 1 Uncertain 1_22408106_G->A 1 22408106 22408106 G A snp 4471.77 1/1 99 168 0 168 1.0 intronic rs2501282 CDC42 AU NM_001791 exon3 c.3243-108G>A 0.971645 0.999 Uncertain 1_22447148_G->C 1 22447148 22447148 G C snp 476.77 1/1 36 14 0 14 1.0 intronic rs12756110 WNT4 AR,AD NM_030761 exon1 c.468+138G>C 0.963059 0.999 Uncertain 1_22447645_-->TG 1 22447645 22447645 - TG indel 1735.73 1/1 99 35 0 35 1.0 intronic rs397776728 WNT4 AR,AD NM_030761 exon2 c.1161-58insTG 0.855631 0.999 Uncertain 1_22827931_C->T 1 22827931 22827931 C T snp 682.77 0/1 99 69 38 31 0.45 intronic rs4655071 ZBTB40 AU NM_014870 exon4 c.11543-53C>T 0.400958 0.3532 Uncertain 1_22832743_A->T 1 22832743 22832743 A T snp 1097.77 1/1 81 37 0 37 1.0 intronic rs209732 ZBTB40 AU NM_014870 exon6 c.16293+9A>T 0.799121 0.8929 0.707673 0.6929 0.8964 Uncertain 1_22835677_A->G 1 22835677 22835677 A G snp 5465.77 1/1 99 199 0 199 1.0 exonic rs209729 ZBTB40 AU nonsynonymous SNV NM_001083621 exon10 c.A1784G p.Y595C 0.822484 0.8929 0.781793 0.7648 0.8982 0.24 T 0.0 P -1.050 T 0.0 T 0.0 T Pathogenic 1_22837587_T->- 1 22837587 22837587 T - indel 231.73 0/1 99 50 26 24 0.48 intronic rs34404742 ZBTB40 AU NM_014870 exon10 c.21230-84delT 0.522364 0.5685 Uncertain 1_22837849_C->T 1 22837849 22837849 C T snp 188.77 0/1 99 17 9 8 0.47 intronic rs209727 ZBTB40 AU NM_014870 exon10 c.21399+9C>T 0.483626 0.3978 0.466631 0.4146 0.4158 Uncertain 1_22846452_C->G 1 22846452 22846452 C G snp 742.77 0/1 99 44 19 25 0.57 intronic rs7551801 ZBTB40 AU NM_014870 exon14 c.30112-101C>G 0.359225 0.3562 Uncertain 1_22846709_G->A 1 22846709 22846709 G A snp 4343.77 1/1 99 151 0 151 1.0 exonic rs209720 ZBTB40 AU nonsynonymous SNV NM_001083621 exon15 c.G2989A p.V997M 0.998403 1 0.996079 0.9970 1 0.3 T 0.000 P -0.944 T 0.001 T 0.001 T Pathogenic 1_22849003_A->C 1 22849003 22849003 A C snp 588.77 0/1 99 46 25 21 0.46 intronic rs998978 ZBTB40 AU NM_014870 exon16 c.32515+47A>C 0.318091 0.4692 0.298247 0.3426 0.4561 Uncertain 1_22852715_G->C 1 22852715 22852715 G C snp 1137.77 0/1 99 131 79 52 0.4 exonic rs881646 ZBTB40 AU synonymous SNV NM_001083621 exon19 c.G3546C p.P1182P 0.318091 0.4692 0.298016 0.3422 0.4547 Uncertain 1_22852904_G->A 1 22852904 22852904 G A snp 408.77 0/1 99 27 13 14 0.52 UTR3 rs2281355 ZBTB40 AU 0.114816 0.3562 0.026142 0.0821 0.3864 Uncertain 1_22925292_C->G 1 22925292 22925292 C G snp 3595.77 1/1 99 134 0 134 1.0 intronic rs664340 EPHA8 AU NM_020526 exon13 c.35202-38C>G 1 1 0.999923 0.9998 1 Uncertain 1_22965438_A->G 1 22965438 22965438 A G snp 1660.77 0/1 99 143 72 71 0.5 exonic rs172378 C1QA AR synonymous SNV NM_015991 exon3 c.A276G p.G92G 0.616414 0.6111 0.487965 0.5387 0.6170 1 T 1.000 P -0.938 T ID=CM035950;DIS=Subacute cutaneous lupus erythematosus, association with;TAG=DP;PUB=12630757 DP Likely benign 1_22970642_C->T 1 22970642 22970642 C T snp 1085.77 0/1 99 95 46 49 0.52 exonic rs15940 C1QC AR synonymous SNV NM_172369 exon2 c.C126T p.P42P 0.299321 0.2927 0.289954 0.3615 0.3195 Uncertain 1_22970828_G->T 1 22970828 22970828 G T snp 678.77 1/1 51 20 0 20 1.0 intronic rs666656 C1QC AR NM_172369 exon2 c.181+131G>T 0.676318 0.6806 Uncertain 1_22970883_A->G 1 22970883 22970883 A G snp 74.77 0/1 99 7 4 3 0.43 intronic rs76828554 C1QC AR NM_172369 exon2 c.181+186A>G 0.0499201 0.1786 Uncertain 1_22974297_C->A 1 22974297 22974297 C A snp 1128.77 1/1 87 33 0 33 1.0 UTR3 rs9434 C1QC AR 0.58766 0.622 0.512917 0.4438 0.5862 Uncertain 1_22985832_A->G 1 22985832 22985832 A G snp 36.77 0/1 65 5 3 2 0.4 intronic rs776246676 C1QB AR Uncertain 1_22987958_A->G 1 22987958 22987958 A G snp 2210.77 1/1 99 69 0 69 1.0 UTR3 rs10580 C1QB AR 0.991414 1 Uncertain 1_23045943_A->G 1 23045943 23045943 A G snp 795.77 0/1 99 85 53 32 0.38 intronic rs2869513 EPHB2 AU NM_017449 exon1 c.61+8407A>G 0.342652 0.4901 Uncertain 1_23107832_A->G 1 23107832 23107832 A G snp 1010.77 1/1 75 33 0 33 1.0 intronic rs3738296 EPHB2 AU NM_017449 exon2 c.70438-81A>G 0.206669 0.5109 Uncertain 1_23208925_G->A 1 23208925 23208925 G A snp 1623.77 0/1 99 120 51 69 0.57 exonic rs2229872 EPHB2 AU synonymous SNV NM_017449 exon6 c.G1377A p.P459P 0.214457 0.4901 0.118022 0.1370 0.5190 Uncertain 1_23216712_T->C 1 23216712 23216712 T C snp 927.77 0/1 99 70 31 39 0.56 intronic rs309474 EPHB2 AU NM_017449 exon7 c.181901-2664T>C 0.51278 0.253 Uncertain 1_23219187_C->T 1 23219187 23219187 C T snp 296.77 0/1 99 24 14 10 0.42 intronic rs116119 EPHB2 AU NM_017449 exon7 c.181901-189C>T 0.357428 0.253 Uncertain 1_23219493_T->C 1 23219493 23219493 T C snp 7183.77 1/1 99 248 0 248 1.0 exonic rs309472 EPHB2 AU synonymous SNV NM_017449 exon7 c.T1545C p.G515G 0.998203 1 0.994157 0.9963 1 Uncertain 1_23223116_C->T 1 23223116 23223116 C T snp 2007.77 0/1 99 169 88 81 0.48 intronic rs309466 EPHB2 AU NM_017449 exon9 c.185496+145C>T 0.384784 0.252 Uncertain 1_23236826_C->T 1 23236826 23236826 C T snp 1092.77 0/1 99 96 51 45 0.47 intronic rs309497 EPHB2 AU NM_017449 exon14 c.199399-48C>T 0.512979 0.2659 0.582347 0.4955 0.2294 Uncertain 1_23280424_G->T 1 23280424 23280424 G T snp 1771.77 0/1 99 178 95 83 0.47 exonic rs12048993 LACTBL1 AU unknown 0.394369 0.5605 0.3702 0.5795 -0.920 T Uncertain 1_23289703_A->G 1 23289703 23289703 A G snp 730.77 0/1 99 79 46 33 0.42 exonic rs6426777 LACTBL1 AU unknown 0.122204 0.0665 0.0831 0.0733 -1.020 T Uncertain 1_23291582_G->A 1 23291582 23291582 G A snp 580.77 0/1 99 30 9 21 0.7 intronic rs4655138 LACTBL1 AU NM_001289974 exon6 c.12247-200G>A 0.527556 0.6151 Uncertain 1_23342362_A->G 1 23342362 23342362 A G snp 640.77 0/1 99 68 38 30 0.44 upstream rs681648 C1orf234 AU 0.734425 0.8204 Uncertain 1_23380198_A->G 1 23380198 23380198 A G snp 783.77 0/1 99 54 26 28 0.52 intronic rs579785 KDM1A AD NM_001009999 exon5 c.34164-55A>G 0.749601 0.8056 0.831143 Uncertain 1_23385827_TT->- 1 23385827 23385828 TT - indel 1451.73 0/1 99 79 45 34 0.43 intronic rs79588010 KDM1A AD NM_001009999 exon9 c.39571+167_39571+168delTT 0.272764 0.254 0.317321 0.3420 0.2888 Uncertain 1_23399932_C->T 1 23399932 23399932 C T snp 1670.77 0/1 99 162 86 76 0.47 intronic rs967605 KDM1A AD NM_001009999 exon15 c.53807+36C>T 0.739816 0.8056 0.820698 0.7676 0.8099 Uncertain 1_23405794_A->C 1 23405794 23405794 A C snp 713.77 1/1 54 23 0 23 1.0 intronic rs2072945 KDM1A AD NM_001009999 exon17 c.59581+124A>C 0.742412 0.873 Uncertain 1_23418153_C->T 1 23418153 23418153 C T snp 1776.77 0/1 99 153 80 73 0.48 exonic rs10799790 LUZP1 AU nonsynonymous SNV NM_033631 exon4 c.G2602A p.D868N 0.746206 0.8065 0.825696 0.7686 0.8123 1 T 0.0 P -1.004 T 0.0 T 0.0 T Pathogenic 1_23419261_G->A 1 23419261 23419261 G A snp 2185.77 0/1 99 151 65 86 0.57 exonic rs477717 LUZP1 AU synonymous SNV NM_033631 exon4 c.C1494T p.S498S 0.690495 0.8065 0.769799 0.7529 0.8124 Uncertain 1_23419374_G->T 1 23419374 23419374 G T snp 3110.77 0/1 99 246 110 136 0.55 exonic rs3765407 LUZP1 AU nonsynonymous SNV NM_033631 exon4 c.C1381A p.Q461K 0.676917 0.8065 0.755728 0.7490 0.8119 0.13 T 0.000 P -1.097 T 0.634 T 0.116 P Pathogenic 1_23419383_C->T 1 23419383 23419383 C T snp 3157.77 0/1 99 250 115 135 0.54 exonic rs477830 LUZP1 AU nonsynonymous SNV NM_033631 exon4 c.G1372A p.G458S 0.690296 0.8065 0.769875 0.7530 0.8125 0.55 T 0.0 P -1.062 T 0.038 T 0.012 T Pathogenic 1_23419855_T->C 1 23419855 23419855 T C snp 1852.77 0/1 99 148 71 77 0.52 exonic rs1983965 LUZP1 AU synonymous SNV NM_033631 exon4 c.A900G p.T300T 0.747404 0.8065 0.826926 0.7691 0.8113 Uncertain 1_23519477_C->T 1 23519477 23519477 C T snp 390.77 0/1 99 28 12 16 0.57 UTR3 rs623988 HTR1D AU 0.342452 0.2649 Uncertain 1_23519508_-->A 1 23519508 23519508 - A indel 1139.73 1/1 99 51 2 49 0.96 UTR3 rs113803399 HTR1D AU Uncertain 1_23519633_A->G 1 23519633 23519633 A G snp 1786.77 0/1 99 177 98 79 0.45 exonic rs6300 HTR1D AU synonymous SNV NM_000864 exon1 c.T1080C p.N360N 0.20627 0.1845 0.129863 0.1617 0.1787 Uncertain 1_23689083_G->A 1 23689083 23689083 G A snp 3458.77 1/1 99 118 0 118 1.0 exonic rs3795308 ZNF436 AU synonymous SNV NM_030634 exon3 c.C792T p.H264H 0.121206 0.1776 0.057819 0.1102 0.1820 Uncertain 1_23689787_T->- 1 23689787 23689787 T - indel 139.77 1/1 21 21 0 21 1.0 intronic rs35676026 ZNF436 AU NM_030634 exon1 c.1253+73delT 0.330871 0.3363 Uncertain 1_23693385_T->C 1 23693385 23693385 T C snp 347.78 1/1 27 9 0 9 1.0 intronic rs618237 ZNF436 AU NM_030634 exon2 c.5073-149T>C 0.274161 0.2748 Uncertain 1_23696152_G->A 1 23696152 23696152 G A snp 1992.77 1/1 99 69 0 69 1.0 ncRNA_exonic rs665977 ZNF436-AS1 AU 0.781749 0.9067 0.808165 0.8854 0.9191 0 D 0.000 P -1.057 T 0.0 T 0.0 T Uncertain 1_23697617_T->C 1 23697617 23697617 T C snp 1208.77 1/1 87 42 0 42 1.0 ncRNA_exonic rs638722 ZNF436-AS1 AU 0.272165 0.2659 0.215836 0.3398 0.3626 Uncertain 1_23698120_C->G 1 23698120 23698120 C G snp 1549.77 1/1 99 45 0 45 1.0 ncRNA_exonic rs754984 ZNF436-AS1 AU 0.128994 0.1796 Uncertain 1_23710805_A->G 1 23710805 23710805 A G snp 2313.77 1/1 99 85 0 85 1.0 intronic rs605468 TCEA3 AU NM_003196 exon2 c.2880-33A>G 0.851837 0.9077 0.876824 0.8986 0.9177 Uncertain 1_23713626_A->G 1 23713626 23713626 A G snp 162.9 1/1 15 5 0 5 1.0 intronic rs1198445 TCEA3 AU NM_003196 exon3 c.5807-139A>G 0.851837 0.9077 Uncertain 1_23713952_T->G 1 23713952 23713952 T G snp 1725.77 1/1 99 61 0 61 1.0 intronic rs676363 TCEA3 AU NM_003196 exon3 c.5954+40T>G 0.852037 0.9077 0.879769 0.8887 0.9165 Uncertain 1_23720260_T->G 1 23720260 23720260 T G snp 592.77 1/1 45 17 0 17 1.0 intronic rs2486078 TCEA3 AU NM_003196 exon4 c.12413-111T>G 0.896765 0.8571 Uncertain 1_23723935_G->A 1 23723935 23723935 G A snp 808.77 1/1 60 21 0 21 1.0 intronic rs7516962 TCEA3 AU NM_003196 exon5 c.16077-100G>A 0.196486 0.248 Uncertain 1_23724514_C->T 1 23724514 23724514 C T snp 2428.77 1/1 99 85 0 85 1.0 intronic rs12568007 TCEA3 AU NM_003196 exon6 c.16490+66C>T 0.123403 0.247 Uncertain 1_23724637_T->C 1 23724637 23724637 T C snp 99.28 1/1 9 3 0 3 1.0 intronic rs7549560 TCEA3 AU NM_003196 exon6 c.16490+189T>C 0.123403 0.247 Uncertain 1_23735241_G->T 1 23735241 23735241 G T snp 1787.77 1/1 99 66 0 66 1.0 intronic rs1198423 TCEA3 AU NM_003196 exon7 c.27261+22G>T 0.842452 0.8829 0.845907 0.8778 0.8998 Uncertain 1_23755513_T->C 1 23755513 23755513 T C snp 1406.77 1/1 99 51 0 51 1.0 UTR3 rs1198430 ASAP3 AU 0.870607 0.881 Uncertain 1_23765472_A->G 1 23765472 23765472 A G snp 725.84 1/1 18 25 1 24 0.96 intronic rs1767148 ASAP3 AU NM_001143778 exon14 c.8979+145A>G 0.870008 0.878 Uncertain 1_23836364_A->G 1 23836364 23836364 A G snp 995.77 0/1 99 115 69 46 0.4 UTR3 rs2075993 E2F2 AU 0.348842 0.5605 0.380114 0.4727 0.5988 Uncertain 1_23843110_C->T 1 23843110 23843110 C T snp 412.77 0/1 99 35 18 17 0.49 intronic rs2075994 E2F2 AU NM_004091 exon2 c.6648+91C>T 0.148962 0.252 Uncertain 1_23845742_C->T 1 23845742 23845742 C T snp 391.77 0/1 99 31 17 14 0.45 intronic rs3218175 E2F2 AU NM_004091 exon3 c.9251+120C>T 0.152556 0.2242 Uncertain 1_23847464_C->A 1 23847464 23847464 C A snp 1620.77 0/1 99 123 52 71 0.58 exonic rs2075995 E2F2 AU nonsynonymous SNV NM_004091 exon4 c.G678T p.Q226H 0.355232 0.5992 0.375827 0.4514 0.6199 0.36 T 0.976 P -0.876 T 0.985 D 0.669 D Pathogenic 1_23885493_C->T 1 23885493 23885493 C T snp 1118.77 0/1 99 111 60 51 0.46 exonic rs142466418 ID3 AU synonymous SNV NM_002167 exon2 c.G318A p.P106P 0.00219649 0.0089 0.000077 0.0005 0.0053 Uncertain 1_23885498_T->C 1 23885498 23885498 T C snp 3204.83 1/1 99 115 0 115 1.0 exonic rs11574 ID3 AU nonsynonymous SNV NM_002167 exon2 c.A313G p.T105A 0.890375 0.9692 0.821928 0.8037 0.9754 0.99 T 0.0 P -0.986 T 0.0 T 0.0 T ID=CM102358;DIS=Increased intima-media thickness, association;TAG=DFP;PUB=20185798 DFP Pathogenic 1_23885599_T->C 1 23885599 23885599 T C snp 1900.77 0/1 99 180 100 80 0.44 intronic rs2067053 ID3 AU NM_002167 exon3 c.167-18T>C 0.463658 0.3403 0.411425 0.3787 0.3437 Uncertain 1_23954126_-->AC 1 23954126 23954126 - AC indel 220.73 0/1 99 14 7 7 0.5 ncRNA_intronic rs34020220 MDS2 AU 0.527356 0.5317 Uncertain 1_23965517_G->A 1 23965517 23965517 G A snp 217.77 0/1 99 15 8 7 0.47 ncRNA_intronic rs61777309 MDS2 AU 0.285543 0.4315 Uncertain 1_23965704_A->C 1 23965704 23965704 A C snp 1278.77 0/1 99 127 71 56 0.44 ncRNA_exonic rs10917403 MDS2 AU 0.274361 0.4315 0.203000 0.2848 0.4485 0 D 0.0 P -0.954 T Uncertain 1_23965829_C->T 1 23965829 23965829 C T snp 218.77 0/1 99 24 14 10 0.42 ncRNA_intronic rs10917404 MDS2 AU 0.274161 0.4315 Uncertain 1_23966837_C->T 1 23966837 23966837 C T snp 877.77 0/1 99 72 34 38 0.53 ncRNA_intronic rs1317329 MDS2 AU 0.276358 0.4315 0.2495 0.4567 Uncertain 1_23966894_-->AAG 1 23966894 23966894 - AAG indel 2357.73 0/1 99 95 45 50 0.53 ncRNA_exonic rs3072132 MDS2 AU 0.276757 0.4306 0.3197 0.4641 Uncertain 1_24018277_C->G 1 24018277 24018277 C G snp 3817.77 1/1 99 141 0 141 1.0 UTR5 rs10917413 RPL11 AD 0.976837 0.996 0.983854 0.9946 0.9984 CLINSIG=non-pathogenic;CLNDBN=not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000127804.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Uncertain 1_24022437_A->G 1 24022437 24022437 A G snp 2752.77 1/1 99 105 0 105 1.0 intronic rs2280437 RPL11 AD NM_001199802 exon5 c.4085+39A>G 0.333666 0.5724 0.333462 0.3628 0.5811 Uncertain 1_24082270_A->- 1 24082270 24082270 A - indel 198.73 0/1 99 34 18 16 0.47 intronic rs371132818 TCEB3 AU NM_003198 exon8 c.12417-62delA 0.379992 0.3879 Uncertain 1_24083649_T->C 1 24083649 24083649 T C snp 1426.77 0/1 99 124 62 62 0.5 intronic rs2076346 TCEB3 AU NM_003198 exon10 c.13700+34T>C 0.292931 0.5169 0.200446 0.2709 0.5775 Uncertain 1_24106510_-->T 1 24106510 24106510 - T indel 843.73 0/1 99 62 26 36 0.58 intronic rs3831910 PITHD1 AU NM_020362 exon3 c.1426+79insT Uncertain 1_24122986_C->T 1 24122986 24122986 C T snp 519.77 0/1 99 37 14 23 0.62 intronic rs760941 GALE AR NM_001127621 exon3 c.560-12C>T 0.534918 0.6309 0.6126 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000078694.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 1_24133612_G->A 1 24133612 24133612 G A snp 1172.77 0/1 99 102 51 51 0.5 intronic rs1018396 HMGCL AR NM_000191 exon3 c.5672-1012G>A 0.554712 0.5119 0.527032 0.5904 0.5431 Uncertain 1_24134721_T->C 1 24134721 24134721 T C snp 2463.77 0/1 99 166 65 101 0.61 exonic rs719400 HMGCL AR synonymous SNV NM_000191 exon7 c.A654G p.L218L 0.88738 0.7817 0.926265 0.9042 0.7920 1.0 P -1.024 T CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter|criteria_provided\x2c_single_submitter;CLNACC=RCV000078343.3|RCV000125367.1;CLNDSDB=MedGen|MedGen;CLNDSDBID=CN169374|CN221809 Likely benign 1_24143932_A->G 1 24143932 24143932 A G snp 701.77 0/1 99 82 50 32 0.39 intronic rs2076344 HMGCL AR NM_000191 exon7 c.15013-33A>G 0.88778 0.7817 0.926495 0.9053 0.7961 Uncertain 1_24151996_C->A 1 24151996 24151996 C A snp 107.77 0/1 99 20 15 5 0.25 upstream rs6697805 HMGCL AR 0.392772 0.4871 Uncertain 1_24180807_A->- 1 24180807 24180807 A - indel 196.73 0/1 99 21 8 13 0.62 intronic rs55699941 FUCA1 AR NM_000147 exon4 c.8645-42delA 0.3496 0.3989 Uncertain 1_24192200_A->G 1 24192200 24192200 A G snp 541.77 0/1 99 31 10 21 0.68 intronic rs34902309 FUCA1 AR NM_000147 exon7 c.19911+85A>G 0.354633 0.499 Uncertain 1_24194748_G->C 1 24194748 24194748 G C snp 1329.77 0/1 99 88 37 51 0.58 exonic rs2070956 FUCA1 AR nonsynonymous SNV NM_000147 exon1 c.C29G p.P10R 0.142971 0.2183 0.1465 0.2525 0.44 T 0.0 P -1.091 T 0.272 T 0.018 T Pathogenic 1_24194773_G->A 1 24194773 24194773 G A snp 783.77 0/1 99 43 18 25 0.58 exonic rs2070955 FUCA1 AR nonsynonymous SNV NM_000147 exon1 c.C4T p.R2W 0.142971 0.2183 0.082365 0.1420 0.262 0.01 T 0.0 P -1.032 T 0.004 T 0.001 T Pathogenic 1_24194788_A->G 1 24194788 24194788 A G snp 601.77 0/1 99 33 15 18 0.55 UTR5 rs2070954 FUCA1 AR 0.142772 0.2183 0.078094 0.1357 0.2548 Uncertain 1_24200903_G->C 1 24200903 24200903 G C snp 211.77 0/1 99 30 20 10 0.33 UTR3 rs2229586 CNR2 AU 0.602037 0.502 Uncertain 1_24200921_T->C 1 24200921 24200921 T C snp 231.77 0/1 99 38 25 13 0.34 UTR3 rs2229585 CNR2 AU 0.653355 0.502 Uncertain 1_24200969_T->C 1 24200969 24200969 T C snp 393.77 0/1 99 62 44 18 0.29 UTR3 rs2229584 CNR2 AU 0.653355 0.502 Uncertain 1_24200983_C->T 1 24200983 24200983 C T snp 481.77 0/1 99 73 50 23 0.32 UTR3 rs2229583 CNR2 AU 0.661342 0.502 0.640890 0.6201 0.5380 Uncertain 1_24201094_G->C 1 24201094 24201094 G C snp 1330.77 0/1 99 129 75 54 0.42 exonic rs2229581 CNR2 AU synonymous SNV NM_001841 exon2 c.C1014G p.T338T 0.653355 0.502 0.634169 0.6190 0.5385 Uncertain 1_24201109_C->T 1 24201109 24201109 C T snp 1477.77 0/1 99 145 84 61 0.42 exonic rs2229580 CNR2 AU synonymous SNV NM_001841 exon2 c.G999A p.P333P 0.653355 0.502 0.634015 0.6190 0.5391 Uncertain 1_24201162_G->A 1 24201162 24201162 G A snp 2690.77 0/1 99 207 94 113 0.55 exonic rs2229579 CNR2 AU nonsynonymous SNV NM_001841 exon2 c.C946T p.H316Y 0.107428 0.2143 0.074120 0.0972 0.2043 0.62 T 0.0 P -1.059 T 0.298 T 0.057 T ID=CM101178;DIS=Increased activity;TAG=FP;PUB=20124950 FP Pathogenic 1_24201262_A->G 1 24201262 24201262 A G snp 2676.77 0/1 99 247 137 110 0.45 exonic rs2502993 CNR2 AU synonymous SNV NM_001841 exon2 c.T846C p.A282A 0.653355 0.502 0.633861 0.6190 0.5389 Uncertain 1_24201357_A->G 1 24201357 24201357 A G snp 2436.77 0/1 99 211 117 94 0.45 exonic rs4649124 CNR2 AU synonymous SNV NM_001841 exon2 c.T751C p.L251L 0.653355 0.502 0.633938 0.6184 0.5370 Uncertain 1_24201448_C->T 1 24201448 24201448 C T snp 2529.77 0/1 99 200 103 97 0.48 exonic rs3003336 CNR2 AU synonymous SNV NM_001841 exon2 c.G660A p.V220V 0.653355 0.502 0.634553 0.6191 0.5402 Uncertain 1_24201643_G->A 1 24201643 24201643 G A snp 1048.77 0/1 99 65 30 35 0.54 exonic rs2501431 CNR2 AU synonymous SNV NM_001841 exon2 c.C465T p.G155G 0.653355 0.502 0.633938 0.6198 0.5412 Uncertain 1_24201919_T->C 1 24201919 24201919 T C snp 1810.77 0/1 99 148 71 77 0.52 exonic rs2502992 CNR2 AU synonymous SNV NM_001841 exon2 c.A189G p.Q63Q 0.653954 0.503 0.612948 0.6183 0.5381 Uncertain 1_24201920_T->C 1 24201920 24201920 T C snp 1834.77 0/1 99 149 72 77 0.52 exonic rs2501432 CNR2 AU nonsynonymous SNV NM_001841 exon2 c.A188G p.Q63R 0.653355 0.502 0.610487 0.6182 0.5376 0.66 T 0.0 P -0.955 T 0.0 T 0.0 T ID=CM098300;DIS=Eating disorders, association with;TAG=DFP;PUB=19768813 DFP Pathogenic 1_24288404_A->G 1 24288404 24288404 A G snp 456.77 1/1 36 18 0 18 1.0 UTR3 rs3211051 PNRC2 AU Uncertain 1_24288432_C->T 1 24288432 24288432 C T snp 302.78 1/1 24 13 0 13 1.0 UTR3 rs115735413 PNRC2 AU 0.0117812 0.0327 Uncertain 1_24294249_C->T 1 24294249 24294249 C T snp 4590.77 1/1 99 163 1 162 0.99 intergenic rs4276860 PNRC2 AU 0.983826 1 0.5148 1 Uncertain 1_24294362_A->T 1 24294362 24294362 A T snp 5482.77 1/1 99 200 0 200 1.0 intergenic rs145308205 PNRC2 AU 0.00658946 0.0109 Uncertain 1_24294451_A->- 1 24294451 24294451 A - indel 521.76 0/1 22 65 9 56 0.86 intergenic rs150302572 PNRC2 AU Uncertain 1_24298263_T->C 1 24298263 24298263 T C snp 838.77 1/1 63 29 0 29 1.0 intergenic rs116679590 PNRC2 AU Uncertain 1_24301685_C->A 1 24301685 24301685 C A snp 4369.77 1/1 99 160 0 160 1.0 intergenic rs114213119 PNRC2 AU Uncertain 1_24301721_T->C 1 24301721 24301721 T C snp 2465.77 1/1 99 77 0 77 1.0 intergenic rs4649147 PNRC2 AU Uncertain 1_24383819_T->C 1 24383819 24383819 T C snp 944.77 1/1 69 27 0 27 1.0 UTR3 rs7540491 MYOM3 AU 0.692492 0.9514 0.677563 0.7056 0.9547 Uncertain 1_24384198_T->A 1 24384198 24384198 T A snp 592.77 0/1 99 52 28 24 0.46 intronic rs79620625 MYOM3 AU NM_152372 exon1 c.264+81T>A Uncertain 1_24388371_T->C 1 24388371 24388371 T C snp 1311.77 1/1 93 48 0 48 1.0 intronic rs4649168 MYOM3 AU NM_152372 exon5 c.4582-64T>C 0.947883 0.994 Uncertain 1_24389510_AA->- 1 24389510 24389511 AA - indel 277.8 1/1 18 6 0 6 1.0 intronic rs67138023 MYOM3 AU NM_152372 exon6 c.5762-105_5762-104delAA 0.645168 0.9385 Uncertain 1_24390731_C->T 1 24390731 24390731 C T snp 860.78 1/1 27 32 1 31 0.97 intronic rs7555384 MYOM3 AU NM_152372 exon8 c.6796+82C>T 0.271765 0.4315 Uncertain 1_24393656_G->A 1 24393656 24393656 G A snp 4142.77 1/1 99 153 0 153 1.0 intronic rs12026723 MYOM3 AU NM_152372 exon10 c.9725+78G>A 0.253594 0.4276 Uncertain 1_24393729_G->A 1 24393729 24393729 G A snp 1640.77 1/1 99 45 0 45 1.0 intronic rs11249090 MYOM3 AU NM_152372 exon10 c.9725+151G>A 0.554912 0.624 Uncertain 1_24393773_-->CTTT 1 24393773 24393773 - CTTT indel 287.8 1/1 18 13 0 13 1.0 intronic rs775863848 MYOM3 AU NM_152372 exon10 c.9725+195insCTTT Uncertain 1_24395003_T->G 1 24395003 24395003 T G snp 339.78 1/1 27 9 0 9 1.0 intronic rs6660675 MYOM3 AU NM_152372 exon12 c.11004+146T>G 0.551318 0.623 Uncertain 1_24400430_A->T 1 24400430 24400430 A T snp 96.28 1/1 9 3 0 3 1.0 intronic rs6675170 MYOM3 AU NM_152372 exon15 c.16796-219A>T 0.946286 0.9921 Uncertain 1_24400584_G->C 1 24400584 24400584 G C snp 2206.77 1/1 99 82 0 82 1.0 intronic rs6660949 MYOM3 AU NM_152372 exon15 c.16796-65G>C 0.967252 0.9921 Uncertain 1_24400633_C->G 1 24400633 24400633 C G snp 2274.77 1/1 99 87 0 87 1.0 intronic rs10903083 MYOM3 AU NM_152372 exon15 c.16796-16C>G 0.967252 0.9921 0.979502 0.9874 0.9948 Uncertain 1_24406647_G->A 1 24406647 24406647 G A snp 4814.77 1/1 99 171 0 171 1.0 exonic rs4649175 MYOM3 AU synonymous SNV NM_152372 exon20 c.C2445T p.A815A 0.354233 0.4276 0.388060 0.3933 0.4445 Uncertain 1_24408015_C->G 1 24408015 24408015 C G snp 1541.77 1/1 99 53 0 53 1.0 intronic rs10903090 MYOM3 AU NM_152372 exon19 c.24093+69C>G 0.366813 0.4266 Uncertain 1_24408765_T->C 1 24408765 24408765 T C snp 865.77 1/1 63 30 0 30 1.0 intronic rs4333801 MYOM3 AU NM_152372 exon20 c.24825+87T>C 0.366414 0.4266 Uncertain 1_24409191_C->T 1 24409191 24409191 C T snp 3710.77 1/1 99 143 0 143 1.0 exonic rs4320729 MYOM3 AU nonsynonymous SNV NM_152372 exon17 c.G1984A p.G662R 0.256789 0.4266 0.310037 0.3683 0.4431 0.03 T 1.000 P -1.025 T 1.0 D 0.999 D Pathogenic 1_24413159_T->C 1 24413159 24413159 T C snp 4539.77 1/1 99 167 0 167 1.0 exonic rs6424152 MYOM3 AU synonymous SNV NM_152372 exon15 c.A1773G p.E591E 0.3748 0.4623 0.402905 0.4012 0.4801 Uncertain 1_24413427_T->G 1 24413427 24413427 T G snp 345.78 1/1 27 11 0 11 1.0 intronic rs6686608 MYOM3 AU NM_152372 exon23 c.29464+110T>G 0.353834 0.4782 Uncertain 1_24416059_T->C 1 24416059 24416059 T C snp 1449.77 1/1 99 49 0 49 1.0 exonic rs4393101 MYOM3 AU nonsynonymous SNV NM_152372 exon14 c.A1583G p.D528G 0.978834 1 0.979036 0.9940 1 1 T 0.003 P -0.935 T 0.0 T 0.0 T Pathogenic 1_24416070_G->C 1 24416070 24416070 G C snp 1490.77 1/1 99 53 0 53 1.0 exonic rs7533060 MYOM3 AU synonymous SNV NM_152372 exon14 c.C1572G p.P524P 0.500599 0.7321 0.472597 0.5067 0.7307 Uncertain 1_24434595_T->C 1 24434595 24434595 T C snp 3998.77 1/1 99 143 0 143 1.0 intronic rs11249170 MYOM3 AU NM_152372 exon35 c.50710+32T>C 0.702676 0.6984 0.667073 0.6349 0.6955 Uncertain 1_24447116_C->T 1 24447116 24447116 C T snp 251.8 1/1 21 7 0 7 1.0 UTR3 rs3795302 IL22RA1 AU 0.486821 0.7262 Uncertain 1_24447214_G->A 1 24447214 24447214 G A snp 2067.77 1/1 99 69 0 69 1.0 UTR3 rs3795300 IL22RA1 AU 0.717053 0.7282 Uncertain 1_24447468_G->C 1 24447468 24447468 G C snp 2898.77 1/1 99 93 0 93 1.0 exonic rs3795299 IL22RA1 AU nonsynonymous SNV NM_021258 exon7 c.C1552G p.R518G 0.466254 0.7252 0.372597 0.4174 0.6988 0.32 T 0.0 P -0.974 T 0.178 T 0.039 T Pathogenic 1_24460797_T->G 1 24460797 24460797 T G snp 968.77 0/1 99 79 33 46 0.58 exonic rs17852649 IL22RA1 AU synonymous SNV NM_021258 exon4 c.A435C p.P145P 0.523562 0.2956 0.633246 0.5715 0.3207 Uncertain 1_24465113_C->T 1 24465113 24465113 C T snp 2020.77 0/1 99 184 104 80 0.43 exonic rs10903022 IL22RA1 AU synonymous SNV NM_021258 exon2 c.G135A p.P45P 0.470647 0.7619 0.344303 0.4218 0.7316 Uncertain 1_24484441_A->G 1 24484441 24484441 A G snp 1691.77 1/1 99 59 0 59 1.0 intronic rs946671 IFNLR1 AU NM_170743 exon1 c.762+60A>G 0.996006 1 0.998029 Uncertain 1_24485518_T->C 1 24485518 24485518 T C snp 964.77 1/1 72 29 0 29 1.0 intronic rs10751769 IFNLR1 AU NM_173064 exon2 c.1922-23T>C 0.995807 1 0.997155 0.9983 1 Uncertain 1_24485813_T->C 1 24485813 24485813 T C snp 1414.77 1/1 99 39 0 39 1.0 intronic rs4649194 IFNLR1 AU NM_173064 exon2 c.2053+141T>C 0.996006 1 Uncertain 1_24485941_T->C 1 24485941 24485941 T C snp 927.77 0/1 99 104 59 45 0.43 intronic rs4649195 IFNLR1 AU NM_173064 exon3 c.2344-22T>C 0.593251 0.5069 0.620790 0.6601 0.5248 Uncertain 1_24513768_G->A 1 24513768 24513768 G A snp 538.77 1/1 39 21 0 21 1.0 upstream rs4090311 IFNLR1 AU 0.838458 0.6379 0.940287 0.8840 0.7692 Uncertain 1_24668842_T->C 1 24668842 24668842 T C snp 820.77 0/1 99 46 17 29 0.63 intronic rs4648974 GRHL3 AD NM_001195010 exon9 c.10727+79T>C 0.275359 0.4593 Uncertain 1_24673282_G->C 1 24673282 24673282 G C snp 40.77 0/1 33 3 1 2 0.67 intronic rs2272932 GRHL3 AD NM_001195010 exon13 c.15095+151G>C 0.270168 0.3849 Uncertain 1_24673866_A->G 1 24673866 24673866 A G snp 1596.77 0/1 99 122 60 62 0.51 intronic rs6691722 GRHL3 AD NM_001195010 exon14 c.15921-91A>G 0.577276 0.5 Uncertain 1_24680665_C->T 1 24680665 24680665 C T snp 206.84 1/1 18 6 0 6 1.0 intronic rs12029270 GRHL3 AD NM_001195010 exon16 c.22827-198C>T 0.269569 0.4127 Uncertain 1_24680915_C->T 1 24680915 24680915 C T snp 1387.77 0/1 99 120 63 57 0.47 intronic rs12030057 GRHL3 AD NM_001195010 exon16 c.22827+52C>T 0.269968 0.4127 0.215285 0.2875 0.4051 Uncertain 1_24687526_T->- 1 24687526 24687526 T - indel 2175.73 0/1 99 142 63 79 0.56 exonic rs533375823 STPG1 AU frameshift deletion NM_178122 exon7 c.602delA p.N201fs 0.000599042 0.003 0.0004 0.0055 Pathogenic 1_24687653_T->C 1 24687653 24687653 T C snp 269.8 1/1 21 9 0 9 1.0 intronic rs532147 GRHL3 AD NM_198174 exon16 c.44633-3021T>C 0.790335 0.875 Uncertain 1_24690764_T->A 1 24690764 24690764 T A snp 1606.77 0/1 99 152 86 66 0.43 exonic rs545809 GRHL3 AD nonsynonymous SNV NM_198174 exon16 c.T1784A p.M595K 0.298922 0.4127 0.3173 0.4367 0 D 0.0 P -0.935 T Pathogenic 1_24695749_C->G 1 24695749 24695749 C G snp 1013.77 0/1 99 72 30 42 0.58 intronic rs35671964 STPG1 AU NM_001199014 exon3 c.11131-414C>G 0.298722 0.4157 Uncertain 1_24706113_G->A 1 24706113 24706113 G A snp 629.77 0/1 99 46 25 21 0.46 intronic rs3765428 STPG1 AU NM_001199014 exon5 c.21110-29G>A 0.415335 0.4444 0.389128 0.3694 0.4370 0.0 P -0.951 T Uncertain 1_24706269_A->G 1 24706269 24706269 A G snp 1745.77 0/1 99 167 90 77 0.46 exonic rs1064842 STPG1 AU synonymous SNV NM_178122 exon4 c.T195C p.N65N 0.419129 0.4444 0.393511 0.3706 0.4380 0.000 P -1.122 T Likely benign 1_24706292_T->C 1 24706292 24706292 T C snp 1722.77 0/1 99 164 89 75 0.46 exonic rs1142057 STPG1 AU nonsynonymous SNV NM_178122 exon4 c.A172G p.I58V 0.365615 0.4444 0.333231 0.3493 0.4372 0.55 T 0.0 P -0.925 T 0.002 T 0.01 T Pathogenic 1_24706410_T->C 1 24706410 24706410 T C snp 592.77 0/1 99 43 21 22 0.51 intronic rs3765431 STPG1 AU NM_001199014 exon5 c.21281+97T>C 0.415136 0.4444 Uncertain 1_24706461_A->G 1 24706461 24706461 A G snp 41.77 0/1 66 5 3 2 0.4 intronic rs3765432 STPG1 AU NM_001199014 exon5 c.21281+148A>G 0.415335 0.4444 Uncertain 1_24718075_T->C 1 24718075 24718075 T C snp 2132.77 0/1 99 153 67 86 0.56 exonic rs2294520 STPG1 AU synonymous SNV NM_001199012 exon3 c.A165G p.Q55Q 0.281749 0.4593 0.2647 0.4239 1.0 P -0.886 T Likely benign 1_24718079_C->A 1 24718079 24718079 C A snp 1479.77 0/1 99 153 86 67 0.44 exonic rs560219 STPG1 AU nonsynonymous SNV NM_001199012 exon3 c.G161T p.S54I 0.234225 0.3145 0.2336 0.3354 0.04 T 1.000 P -1.092 T 0.006 T 0.004 T Pathogenic 1_24727678_C->T 1 24727678 24727678 C T snp 1342.77 1/1 99 40 0 40 1.0 intronic rs2078445 STPG1 AU NM_001199014 exon9 c.42776-130C>T 0.722843 0.7877 Uncertain 1_24746205_C->T 1 24746205 24746205 C T snp 2016.77 0/1 99 190 105 85 0.45 intronic rs12125143 NIPAL3 AU NM_020448 exon2 c.93+75C>T 0.307109 0.4415 Uncertain 1_24768778_G->C 1 24768778 24768778 G C snp 343.78 1/1 27 10 0 10 1.0 intronic rs4648863 NIPAL3 AU NM_020448 exon4 c.22679+62G>C 0.735024 0.7798 Uncertain 1_24775967_G->A 1 24775967 24775967 G A snp 565.77 1/1 42 17 0 17 1.0 splicing rs4648989 NIPAL3 AU NM_020448 exon6 c.29933-3G>A 0.172125 0.3065 0.173382 0.2090 0.2921 Pathogenic 1_24779873_C->T 1 24779873 24779873 C T snp 2263.77 1/1 99 81 0 81 1.0 intronic rs1883462 NIPAL3 AU NM_020448 exon7 c.33860-24C>T 0.292532 0.3115 0.335614 0.3252 0.3045 Uncertain 1_24780356_C->A 1 24780356 24780356 C A snp 794.77 1/1 60 22 0 22 1.0 intronic rs11249117 NIPAL3 AU NM_020448 exon7 c.33957+362C>A 0.164936 0.3065 Uncertain 1_24780522_T->- 1 24780522 24780522 T - indel 236.73 0/1 55 33 7 26 0.79 intronic rs67528293 NIPAL3 AU NM_020448 exon7 c.33957+528delT 0.430711 0.374 0.2994 0.2808 Uncertain 1_24784197_T->C 1 24784197 24784197 T C snp 1764.77 1/1 99 60 0 60 1.0 intronic rs195718 NIPAL3 AU NM_020448 exon9 c.39340-1180T>C 0.566893 0.7659 0.501046 0.5445 0.7584 Uncertain 1_24792617_T->A 1 24792617 24792617 T A snp 6027.77 1/1 99 223 0 223 1.0 intronic rs195725 NIPAL3 AU NM_020448 exon11 c.44573+2007T>A 0.646166 0.7312 0.604050 0.6348 0.7305 Uncertain 1_24927561_T->C 1 24927561 24927561 T C snp 1106.77 1/1 78 44 0 44 1.0 intronic rs4553122 NCMAP AU NM_001010980 exon3 c.5594+46T>C 0.551917 0.5863 0.542980 0.5617 0.6190 Uncertain 1_24969974_C->- 1 24969974 24969974 C - indel 188.73 0/1 83 42 8 34 0.81 intronic rs71032840 SRRM1 AU NM_005839 exon1 c.21+136delC Uncertain 1_24989762_G->T 1 24989762 24989762 G T snp 2495.77 1/1 99 99 0 99 1.0 intronic rs4649011 SRRM1 AU NM_001303448 exon13 c.19898+47G>T 0.990415 1 0.9866 1 Uncertain 1_25098245_T->C 1 25098245 25098245 T C snp 737.77 0/1 99 50 25 25 0.5 intronic rs9332415 CLIC4 AU NM_013943 exon2 c.52188-25987T>C 0.541334 0.5159 Uncertain 1_25098341_C->T 1 25098341 25098341 C T snp 2245.77 0/1 99 178 81 97 0.54 intronic rs7548438 CLIC4 AU NM_013943 exon2 c.52188-25891C>T 0.541334 0.5159 0.616672 0.6422 0.5154 Uncertain 1_25140825_A->G 1 25140825 25140825 A G snp 367.77 0/1 99 33 17 16 0.48 intronic rs3890756 CLIC4 AU NM_013943 exon3 c.68666+115A>G 0.385583 0.4841 Uncertain 1_25153692_G->A 1 25153692 25153692 G A snp 1613.77 1/1 99 61 0 61 1.0 intronic rs4649022 CLIC4 AU NM_013943 exon4 c.81563+85G>A 0.975639 1 Uncertain 1_25234064_C->T 1 25234064 25234064 C T snp 107.77 0/1 99 9 5 4 0.44 intronic rs574747950 RUNX3 AU NM_001031680 exon2 c.5296+156C>T 0.000199681 0.001 Uncertain 1_25254317_C->T 1 25254317 25254317 C T snp 798.77 0/1 99 54 27 27 0.5 intronic rs7517302 RUNX3 AU NM_001031680 exon4 c.25609+96C>T 0.545128 0.5575 Uncertain 1_25256444_G->A 1 25256444 25256444 G A snp 209.77 0/1 99 15 7 8 0.53 intronic rs71514255 RUNX3 AU NM_001031680 exon5 c.27731+101G>A 0.46845 0.5585 Uncertain 1_25291010_A->T 1 25291010 25291010 A T snp 2194.77 1/1 99 82 0 82 1.0 exonic rs6672420 RUNX3 AU nonsynonymous SNV NM_001031680 exon1 c.T53A p.I18N 0.577676 0.6885 0.463550 0.5703 0.7180 0.01 T 1.0 P -0.903 T 1.0 D 0.994 D Pathogenic 1_25350186_G->C 1 25350186 25350186 G C snp 315.77 0/1 90 16 5 11 0.69 downstream rs416365 MIR4425 AU 0.297125 0.4008 Uncertain 1_25558748_C->G 1 25558748 25558748 C G snp 50.77 0/1 79 16 13 3 0.19 intronic rs769617954 SYF2 AU NM_015484 exon6 c.8946+46C>G 0 0 Uncertain 1_25570550_-->T 1 25570550 25570550 - T indel 189.7 1/1 6 11 1 10 0.91 intronic rs397816732 RSRP1 AU NM_020317 exon2 c.1045+426insT 0.908546 0.9028 Uncertain 1_25611035_G->C 1 25611035 25611035 G C snp 2954.77 0/1 99 175 60 115 0.66 intronic rs2301153 RHD AU NM_001282870 exon2 c.12025-28G>C 0.622404 0.8036 0.562264 0.7422 0.7785 Uncertain 1_25617399_T->C 1 25617399 25617399 T C snp 176.9 1/1 15 5 0 5 1.0 intronic rs28521909 RHD AU NM_001282870 exon3 c.18244+117T>C 0.805911 0.9871 Uncertain 1_25617406_G->A 1 25617406 25617406 G A snp 84.28 1/1 9 3 0 3 1.0 intronic rs28562109 RHD AU NM_001282870 exon3 c.18244+124G>A 0.801917 0.9831 Uncertain 1_25628814_A->C 1 25628814 25628814 A C snp 496.77 0/1 99 71 45 26 0.37 intronic rs549546052 RHD AU NM_001282870 exon5 c.29139+637A>C 0.0301518 Uncertain 1_25634143_T->C 1 25634143 25634143 T C snp 341.77 0/1 99 33 14 19 0.58 intronic rs2427766 RHD AU NM_001282872 exon8 c.35099+6T>C 0.135583 0.2619 0.2312 0.1980 0.05 T 0.0 P -1.048 T 0.642 T 0.478 P Uncertain 1_25634205_G->A 1 25634205 25634205 G A snp 747.77 0/1 99 68 37 31 0.46 intronic rs2257611 RHD AU NM_001282872 exon8 c.35099+68G>A 0.184704 0.1984 0.1903 0.2574 0.21 T 0.0 P -0.967 T 0.994 D 0.277 D Uncertain 1_25648349_T->C 1 25648349 25648349 T C snp 1613.77 0/1 99 126 58 68 0.54 intronic rs28669938 RHD AU NM_016124 exon9 c.49341-30T>C 0.186502 0.2083 0.222885 0.2496 0.2535 Uncertain 1_25678003_A->- 1 25678003 25678003 A - indel 145.37 1/1 8 11 1 10 0.91 intronic rs528939821 TMEM50A AU NM_014313 exon4 c.11139-113delA 0.643171 0.6786 Uncertain 1_25678238_T->A 1 25678238 25678238 T A snp 2006.77 1/1 99 67 0 67 1.0 intronic rs3093616 TMEM50A AU NM_014313 exon4 c.11207+54T>A 0.932708 1 0.941305 Uncertain 1_25717139_C->T 1 25717139 25717139 C T snp 428.77 0/1 99 19 6 13 0.68 intronic rs636889 RHCE AU NM_138618 exon5 c.20254-100C>T 0.444289 0.2361 Uncertain 1_25717365_C->G 1 25717365 25717365 C G snp 2375.77 0/1 99 176 75 101 0.57 exonic rs609320 RHCE AU nonsynonymous SNV NM_020485 exon5 c.G676C p.A226P 0.14377 0.2024 0.140858 0.1622 0.2422 0.04 T 0.734 P -1.046 T 0.032 T 0.151 T CLINSIG=non-pathogenic;CLNDBN=RH_E/e_POLYMORPHISM;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000019282.1;CLNDSDB=.;CLNDSDBID=. ID=CM930646;DIS=Rhesus blood group variant;TAG=FP;PUB=8220426 FP Pathogenic 1_25747230_G->C 1 25747230 25747230 G C snp 424.77 0/1 99 86 61 25 0.29 exonic rs586178 RHCE AU nonsynonymous SNV NM_020485 exon1 c.C48G p.C16W 0.398962 0.2202 0.3982 0.2242 0.47 T 0.0 P -0.901 T 0.001 T 0.006 T CLINSIG=non-pathogenic;CLNDBN=RH_C/c_POLYMORPHISM;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000019283.1;CLNDSDB=.;CLNDSDBID=. ID=CM011810;DIS=Rhesus blood group variant;TAG=FP;PUB=11380456 FP Pathogenic 1_25780668_C->T 1 25780668 25780668 C T snp 1160.77 0/1 99 72 29 43 0.6 intronic rs34006994 TMEM57 AU NM_018202 exon4 c.23160-81C>T 0.496406 0.7728 Uncertain 1_25780889_-->TG 1 25780889 25780889 - TG indel 443.73 0/1 99 45 19 26 0.58 intronic rs141203814 TMEM57 AU NM_018202 exon4 c.23284+16insTG 0.4564 0.6720 Uncertain 1_25780893_A->G 1 25780893 25780893 A G snp 703.77 0/1 99 40 18 22 0.55 intronic rs61775167 TMEM57 AU NM_018202 exon4 c.23284+20A>G 0.498403 0.7728 0.5016 0.7262 Uncertain 1_25783066_A->G 1 25783066 25783066 A G snp 510.77 0/1 99 30 10 20 0.67 intronic rs35497030 TMEM57 AU NM_018202 exon5 c.25554-77A>G 0.471046 0.7728 Uncertain 1_25785451_A->G 1 25785451 25785451 A G snp 811.77 0/1 99 53 25 28 0.53 intronic rs35530120 TMEM57 AU NM_018202 exon6 c.27794+68A>G 0.497204 0.7728 Uncertain 1_25815686_C->T 1 25815686 25815686 C T snp 2603.77 0/1 99 160 52 108 0.68 exonic rs747346736 TMEM57 AU nonsynonymous SNV NM_001282564 exon7 c.C838T p.R280W 8.433e-06 0 0 D 1.000 D 0.235 D 1.0 D 0.971 D Pathogenic 1_25870018_C->G 1 25870018 25870018 C G snp 59.74 1/1 6 3 0 3 1.0 upstream rs61776820 LDLRAP1 AU 0.994609 1 Uncertain 1_25889343_AG->- 1 25889343 25889344 AG - indel 605.73 0/1 99 38 19 19 0.5 intronic rs10687390 LDLRAP1 AU NM_015627 exon5 c.19018+136_19018+137delAG 0.434704 0.4415 Uncertain 1_25889422_C->T 1 25889422 25889422 C T snp 567.77 0/1 99 37 16 21 0.57 intronic rs12096438 LDLRAP1 AU NM_015627 exon6 c.19371-138C>T 0.433107 0.4415 Uncertain 1_25889632_T->C 1 25889632 25889632 T C snp 1190.77 0/1 99 98 50 48 0.49 exonic rs6687605 LDLRAP1 AU nonsynonymous SNV NM_015627 exon6 c.T604C p.S202P 0.434904 0.4425 0.469312 0.5011 0.4507 0.3 T 0.0 P -0.928 T 0.079 T 0.048 T Pathogenic 1_25889672_G->A 1 25889672 25889672 G A snp 731.77 0/1 99 62 29 33 0.53 intronic rs6688931 LDLRAP1 AU NM_015627 exon6 c.19455+28G>A 0.416534 0.4415 0.446692 0.4817 0.4495 Uncertain 1_25890050_A->G 1 25890050 25890050 A G snp 1305.77 0/1 99 112 60 52 0.46 intronic rs6661159 LDLRAP1 AU NM_015627 exon7 c.19962-101A>G 0.439297 0.4454 Uncertain 1_25890189_A->G 1 25890189 25890189 A G snp 2883.77 0/1 99 250 133 117 0.47 exonic rs28969504 LDLRAP1 AU synonymous SNV NM_015627 exon7 c.A654G p.T218T 0.586262 0.4435 0.632170 0.5515 0.4524 Uncertain 1_25893221_G->T 1 25893221 25893221 G T snp 485.77 0/1 99 28 13 15 0.54 intronic rs4523506 LDLRAP1 AU NM_015627 exon9 c.23149-117G>T 0.569489 0.5546 Uncertain 1_25893242_T->C 1 25893242 25893242 T C snp 645.77 0/1 99 41 20 21 0.51 intronic rs4418583 LDLRAP1 AU NM_015627 exon9 c.23149-96T>C 0.588059 0.5556 Uncertain 1_25893243_G->A 1 25893243 25893243 G A snp 621.77 0/1 99 41 20 21 0.51 intronic rs4603124 LDLRAP1 AU NM_015627 exon9 c.23149-95G>A 0.416334 0.5546 Uncertain 1_26080217_C->T 1 26080217 26080217 C T snp 37.77 0/1 66 4 2 2 0.5 intronic rs2281000 MAN1C1 AU NM_020379 exon5 c.135781+148C>T 0.164936 0.246 Uncertain 1_26085049_G->- 1 26085049 26085049 G - indel 5068.73 1/1 99 140 0 140 1.0 intronic rs11321223 MAN1C1 AU NM_020379 exon6 c.140794-33delG 0.909944 0.9901 0.8420 0.9870 Uncertain 1_26090072_A->G 1 26090072 26090072 A G snp 1824.77 1/1 99 60 0 60 1.0 intronic rs807270 MAN1C1 AU NM_020379 exon7 c.146076-292A>G 0.910144 0.9901 Uncertain 1_26098107_G->A 1 26098107 26098107 G A snp 2308.77 1/1 99 79 0 79 1.0 intronic rs2072747 MAN1C1 AU NM_020379 exon8 c.153859-40G>A 0.599042 0.744 0.562673 0.6340 0.7615 Uncertain 1_26098333_G->A 1 26098333 26098333 G A snp 1995.77 1/1 99 62 0 62 1.0 intronic rs807264 MAN1C1 AU NM_020379 exon8 c.153975+70G>A 0.884784 0.9901 Uncertain 1_26107321_A->C 1 26107321 26107321 A C snp 50.74 1/1 6 2 0 2 1.0 intronic rs807274 MAN1C1 AU NM_020379 exon10 c.163142-109A>C 0.908746 0.9901 Uncertain 1_26107688_C->A 1 26107688 26107688 C A snp 3731.77 1/1 99 132 1 131 0.99 intronic rs807273 MAN1C1 AU NM_020379 exon10 c.163315+85C>A 0.870607 0.9901 Uncertain 1_26109237_A->G 1 26109237 26109237 A G snp 3040.77 1/1 99 89 0 89 1.0 intronic rs12567324 MAN1C1 AU NM_020379 exon11 c.164903+46A>G 0.633586 0.7302 0.594894 0.6250 0.7316 Uncertain 1_26109307_G->C 1 26109307 26109307 G C snp 469.77 1/1 36 12 0 12 1.0 intronic rs2072746 MAN1C1 AU NM_020379 exon11 c.164903+116G>C 0.633786 0.7312 Uncertain 1_26110065_A->G 1 26110065 26110065 A G snp 4729.77 1/1 99 161 0 161 1.0 intronic rs3820514 MAN1C1 AU NM_020379 exon12 c.165865-88A>G 0.582867 0.7312 Uncertain 1_26110143_G->A 1 26110143 26110143 G A snp 7625.77 1/1 99 250 1 249 1.0 intronic rs3767877 MAN1C1 AU NM_020379 exon12 c.165865-10G>A 0.642173 0.7272 0.605490 0.6336 0.7377 Uncertain 1_26127020_G->A 1 26127020 26127020 G A snp 283.78 1/1 24 11 0 11 1.0 intronic rs13373825 SEPN1 AU NM_206926 exon1 c.183+116G>A 0.875399 0.9782 Uncertain 1_26127425_G->A 1 26127425 26127425 G A snp 708.77 1/1 54 19 0 19 1.0 intronic rs6659086 SEPN1 AU NM_206926 exon2 c.812-108G>A 0.689497 0.6448 Uncertain 1_26131654_G->A 1 26131654 26131654 G A snp 1304.77 1/1 96 43 0 43 1.0 exonic rs7349185 SEPN1 AU unknown 0.841853 0.9395 0.8144 0.9416 1 T 0.0 P -0.907 T 0.0 T 0.0 T CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_multiple_submitters\x2c_no_conflicts;CLNACC=RCV000082016.4;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 1_26136452_A->C 1 26136452 26136452 A C snp 666.77 1/1 51 17 0 17 1.0 intronic rs6686366 SEPN1 AU NM_206926 exon6 c.9590+141A>C 0.817492 0.9772 Uncertain 1_26138136_C->A 1 26138136 26138136 C A snp 7264.77 1/1 99 250 0 250 1.0 intronic rs760598 SEPN1 AU NM_206926 exon8 c.11460-45C>A 0.747005 0.9683 0.684802 0.7861 0.9645 Uncertain 1_26138262_T->C 1 26138262 26138262 T C snp 4640.77 1/1 99 160 0 160 1.0 exonic rs760597 SEPN1 AU unknown 0.791933 0.9683 0.737172 0.8132 0.9641 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_multiple_submitters\x2c_no_conflicts;CLNACC=RCV000082009.4;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 1_26138451_A->G 1 26138451 26138451 A G snp 56.74 1/1 6 2 0 2 1.0 intronic rs11247744 SEPN1 AU NM_206926 exon8 c.11649+81A>G 0.791933 0.9683 Uncertain 1_26139137_C->T 1 26139137 26139137 C T snp 619.77 1/1 45 27 1 26 0.96 intronic rs10902685 SEPN1 AU NM_206926 exon9 c.12456-40C>T 0.697684 0.9683 0.637140 0.7944 0.9663 Uncertain 1_26139392_A->G 1 26139392 26139392 A G snp 846.77 1/1 63 29 0 29 1.0 intronic rs3738451 SEPN1 AU NM_206926 exon9 c.12562+109A>G 0.795327 0.9683 Uncertain 1_26139444_G->A 1 26139444 26139444 G A snp 219.84 1/1 18 9 0 9 1.0 intronic rs10751726 SEPN1 AU NM_206926 exon9 c.12562+161G>A 0.694688 0.9683 Uncertain 1_26139879_C->G 1 26139879 26139879 C G snp 139.03 1/1 12 4 0 4 1.0 intronic rs6676413 SEPN1 AU NM_206926 exon10 c.13650-492C>G 0.751198 0.9683 Uncertain 1_26139919_C->T 1 26139919 26139919 C T snp 504.77 1/1 39 14 0 14 1.0 intronic rs6676509 SEPN1 AU NM_206926 exon10 c.13650-452C>T 0.754792 0.9683 Uncertain 1_26140573_C->A 1 26140573 26140573 C A snp 4042.77 1/1 99 148 0 148 1.0 exonic rs2294228 SEPN1 AU unknown 0.697484 0.9683 0.631950 0.7747 0.9643 0.11 T 0.001 P -0.998 T 0.0 T 0.001 T CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_multiple_submitters\x2c_no_conflicts;CLNACC=RCV000082012.4;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 1_26146884_C->G 1 26146884 26146884 C G snp 2282.77 1/1 99 76 0 76 1.0 ncRNA_exonic rs984412 LOC646471 AU 0.792532 0.9782 0.8496 0.9923 0 D 0.000 P -1.011 T Uncertain 1_26149357_CT->- 1 26149357 26149358 CT - indel 406.75 1/1 24 8 0 8 1.0 ncRNA_exonic rs3033467 LOC646471 AU 0.836462 0.9782 Uncertain 1_26150023_C->T 1 26150023 26150023 C T snp 2579.77 1/1 99 83 0 83 1.0 ncRNA_exonic rs11247758 LOC646471 AU 0.756789 0.9683 Uncertain 1_26152666_T->C 1 26152666 26152666 T C snp 2115.77 1/1 99 69 0 69 1.0 intronic rs6598923 MTFR1L AU NM_001099626 exon4 c.3197-126T>C 0.839856 0.9782 Uncertain 1_26152758_A->G 1 26152758 26152758 A G snp 5095.77 1/1 99 193 0 193 1.0 intronic rs6598924 MTFR1L AU NM_001099626 exon4 c.3197-34A>G 0.86222 0.9782 0.803453 0.8264 0.9763 Uncertain 1_26155806_C->T 1 26155806 26155806 C T snp 44.74 1/1 6 2 0 2 1.0 intronic rs6664610 MTFR1L AU NM_001099626 exon6 c.6404-193C>T 0.796326 0.9782 Uncertain 1_26158337_C->T 1 26158337 26158337 C T snp 809.77 1/1 60 21 0 21 1.0 intronic rs1961580 MTFR1L AU NM_001099626 exon7 c.8816-74C>T 0.86222 0.9782 Uncertain 1_26310394_A->G 1 26310394 26310394 A G snp 1485.77 1/1 99 52 0 52 1.0 intronic rs2275102 PAFAH2 AU NM_000437 exon6 c.21957-42A>G 0.546725 0.7113 0.501461 0.6315 0.6857 Uncertain 1_26310836_G->T 1 26310836 26310836 G T snp 267.8 1/1 21 7 0 7 1.0 intronic rs3738458 PAFAH2 AU NM_000437 exon7 c.22471-114G>T 0.546126 0.7113 Uncertain 1_26314564_T->C 1 26314564 26314564 T C snp 837.77 1/1 63 25 0 25 1.0 intronic rs2245979 PAFAH2 AU NM_000437 exon8 c.26242-157T>C 0.805112 0.9266 Uncertain 1_26314810_G->A 1 26314810 26314810 G A snp 851.77 0/1 99 72 35 37 0.51 exonic rs79851686 PAFAH2 AU nonsynonymous SNV NM_000437 exon4 c.C253T p.R85C 0.00219649 0.0079 0.000154 0.0014 0.0155 0.01 T 1.000 D -0.657 T 0.999 D 0.916 D Pathogenic 1_26349967_C->T 1 26349967 26349967 C T snp 1406.77 1/1 99 50 0 50 1.0 intronic rs1938405 EXTL1 AU NM_004455 exon1 c.779+51C>T 0.58147 0.753 0.435202 0.5472 0.7460 Uncertain 1_26357656_C->A 1 26357656 26357656 C A snp 3068.77 0/1 99 250 128 122 0.49 exonic rs2736831 EXTL1 AU nonsynonymous SNV NM_004455 exon5 c.C1135A p.H379N 0.594249 0.75 0.546594 0.6742 0.7315 0.27 T 0.443 P -0.903 T 0.029 T 0.01 T Pathogenic 1_26357667_G->A 1 26357667 26357667 G A snp 2879.77 0/1 99 250 127 123 0.49 exonic rs11247848 EXTL1 AU synonymous SNV NM_004455 exon5 c.G1146A p.L382L 0.149361 0.1845 0.188605 0.1731 0.1987 Uncertain 1_26357855_A->G 1 26357855 26357855 A G snp 3553.77 1/1 99 124 0 124 1.0 intronic rs2802321 EXTL1 AU NM_004455 exon6 c.8813-95A>G 0.973243 1 Uncertain 1_26358752_-->A 1 26358752 26358752 - A indel 4503.73 1/1 99 112 0 112 1.0 intronic rs397758090 EXTL1 AU NM_004455 exon7 c.9749-134insA 0.873602 0.9345 Uncertain 1_26365374_T->G 1 26365374 26365374 T G snp 485.77 0/1 99 37 17 20 0.54 UTR3 rs4659404 SLC30A2 AD 0.591254 0.75 Uncertain 1_26365549_C->T 1 26365549 26365549 C T snp 1183.77 0/1 99 103 58 45 0.44 UTR3 rs2997452 SLC30A2 AD 0.700479 0.874 Uncertain 1_26369297_T->C 1 26369297 26369297 T C snp 94.28 1/1 9 3 0 3 1.0 intronic rs2997451 SLC30A2 AD NM_001004434 exon4 c.3549+98T>C 0.872204 0.9345 Uncertain 1_26370164_G->A 1 26370164 26370164 G A snp 375.77 0/1 99 18 7 11 0.61 intronic rs11585142 SLC30A2 AD NM_001004434 exon5 c.4392+122G>A 0.652356 0.8631 Uncertain 1_26372144_A->G 1 26372144 26372144 A G snp 975.77 1/1 72 26 0 26 1.0 intronic rs6686190 SLC30A2 AD NM_001004434 exon8 c.6687-193A>G 0.865815 0.9345 Uncertain 1_26383875_A->G 1 26383875 26383875 A G snp 410.77 0/1 99 26 10 16 0.62 intronic rs2275947 TRIM63 AU NM_032588 exon3 c.5455+57A>G 0.260783 0.1696 Uncertain 1_26384013_A->G 1 26384013 26384013 A G snp 113.77 0/1 99 9 5 4 0.44 intronic rs12059101 TRIM63 AU NM_032588 exon4 c.5755-105A>G 0.117412 0.0556 Uncertain 1_26385003_T->C 1 26385003 26385003 T C snp 2881.77 0/1 99 219 96 123 0.56 exonic rs2275950 TRIM63 AU nonsynonymous SNV NM_032588 exon5 c.A709G p.K237E 0.182308 0.1706 0.235045 0.1921 0.1937 1 T 0.000 P -0.985 T 0.0 T 0.0 T Pathogenic 1_26385150_G->C 1 26385150 26385150 G C snp 1464.77 0/1 99 134 75 59 0.44 intronic rs2275949 TRIM63 AU NM_032588 exon5 c.6751+36G>C 0.156749 0.1706 0.208596 0.1867 0.1938 Uncertain 1_26387625_A->C 1 26387625 26387625 A C snp 808.77 0/1 99 48 20 28 0.58 intronic rs41311276 TRIM63 AU NM_032588 exon7 c.9293-31A>C 0.11881 0.0337 0.178994 0.1507 0.0416 Uncertain 1_26440718_A->T 1 26440718 26440718 A T snp 1010.77 0/1 99 91 51 40 0.44 intronic rs56134135 PDIK1L AU 0.117412 0.0159 Uncertain 1_26448447_A->G 1 26448447 26448447 A G snp 1715.77 0/1 99 236 155 81 0.34 exonic rs17257107 PDIK1L AU synonymous SNV NM_001243532 exon3 c.A405G p.K135K 0.117212 0.0159 0.186837 0.1456 0.0209 Uncertain 1_26448849_T->C 1 26448849 26448849 T C snp 3505.77 0/1 99 249 122 127 0.51 exonic rs17356867 PDIK1L AU synonymous SNV NM_001243532 exon3 c.T807C p.Y269Y 0.117212 0.0159 0.186837 0.1457 0.0209 Uncertain 1_26488019_G->A 1 26488019 26488019 G A snp 2848.77 0/1 99 215 109 106 0.49 exonic rs3748857 FAM110D AU synonymous SNV NM_024869 exon2 c.G237A p.P79P 0.282149 0.5794 0.061736 0.2706 0.6296 Uncertain 1_26496651_T->C 1 26496651 26496651 T C snp 2318.77 1/1 99 85 0 85 1.0 exonic rs7087 ZNF593 AU synonymous SNV NM_015871 exon1 c.T177C p.G59G 0.534744 0.6429 0.369116 0.4912 0.6932 Uncertain 1_26496870_A->G 1 26496870 26496870 A G snp 1393.77 1/1 99 43 0 43 1.0 intronic rs2232654 ZNF593 AU NM_015871 exon2 c.434-38A>G 0.460863 0.6429 0.329617 0.3859 0.6559 Uncertain 1_26503884_G->A 1 26503884 26503884 G A snp 46.77 0/1 33 3 1 2 0.67 upstream rs184253542 CNKSR1 AU 0.00179712 0.0069 Uncertain 1_26504036_G->A 1 26504036 26504036 G A snp 611.77 0/1 99 58 33 25 0.43 UTR5 rs17356937 CNKSR1 AU 0.0998403 0.0109 0.180609 0.1542 0.0124 Uncertain 1_26504196_C->G 1 26504196 26504196 C G snp 644.77 1/1 48 21 0 21 1.0 intronic rs2783707 CNKSR1 AU NM_006314 exon1 c.52+106C>G 0.535343 0.6419 Uncertain 1_26508293_G->A 1 26508293 26508293 G A snp 1069.77 0/1 99 98 51 47 0.48 intronic rs3819033 CNKSR1 AU NM_006314 exon4 c.4309-54G>A 0.285942 0.5933 0.077092 Uncertain 1_26508480_T->C 1 26508480 26508480 T C snp 524.77 0/1 99 29 9 20 0.69 intronic rs2275945 CNKSR1 AU NM_006314 exon4 c.4394+48T>C 0.336462 0.6329 0.120483 0.2179 0.6432 Uncertain 1_26508542_C->T 1 26508542 26508542 C T snp 50.74 1/1 6 3 0 3 1.0 intronic rs138871245 CNKSR1 AU NM_006314 exon4 c.4394+110C>T 0.00259585 0.0109 Uncertain 1_26511700_A->G 1 26511700 26511700 A G snp 1576.77 0/1 99 140 69 71 0.51 intronic rs2783680 CNKSR1 AU NM_006314 exon14 c.7639+23A>G 0.710863 0.9702 0.569279 0.6954 0.9680 Uncertain 1_26513565_C->A 1 26513565 26513565 C A snp 95.77 0/1 99 10 5 5 0.5 intronic rs77391153 CNKSR1 AU NM_006314 exon15 c.9620-93C>A 0.00199681 0.0079 Uncertain 1_26517267_A->G 1 26517267 26517267 A G snp 996.77 0/1 99 100 55 45 0.45 exonic rs41284333 CATSPER4 AU nonsynonymous SNV NM_198137 exon1 c.A149G p.H50R 0.123203 0.0089 0.200600 0.1620 0.0135 0.09 T 0.0 P -0.790 T 0.003 T 0.002 T Pathogenic 1_26517667_T->C 1 26517667 26517667 T C snp 459.77 0/1 99 31 14 17 0.55 intronic rs11247864 CATSPER4 AU NM_198137 exon2 c.659-110T>C 0.295527 0.124 Uncertain 1_26517773_T->C 1 26517773 26517773 T C snp 1417.77 0/1 99 125 66 59 0.47 splicing rs11247865 CATSPER4 AU NM_198137 exon2 c.659-4T>C 0.134984 0.0089 0.208596 0.1596 0.0127 Pathogenic 1_26517794_A->G 1 26517794 26517794 A G snp 1498.77 0/1 99 140 75 65 0.46 exonic rs11247866 CATSPER4 AU nonsynonymous SNV NM_198137 exon2 c.A230G p.Q77R 0.122005 0.0109 0.199985 0.1547 0.0129 0.38 T 0.118 P -1.134 T 0.799 T 0.343 P Pathogenic 1_26517891_C->T 1 26517891 26517891 C T snp 1433.77 0/1 99 134 72 62 0.46 exonic rs11247867 CATSPER4 AU synonymous SNV NM_198137 exon2 c.C327T p.I109I 0.117013 0.0089 0.195986 0.1534 0.0130 Uncertain 1_26524401_A->G 1 26524401 26524401 A G snp 753.77 0/1 99 56 31 25 0.45 intronic rs57653638 CATSPER4 AU NM_198137 exon5 c.7329-46A>G 0.124201 0.0109 0.193449 0.1543 0.0129 Uncertain 1_26524706_A->G 1 26524706 26524706 A G snp 1040.77 0/1 99 100 59 41 0.41 intronic rs9970046 CATSPER4 AU NM_198137 exon6 c.7658-70A>G 0.672524 0.4216 Uncertain 1_26526348_G->C 1 26526348 26526348 G C snp 185.77 0/1 99 17 9 8 0.47 intronic rs17257148 CATSPER4 AU NM_198137 exon7 c.9256-26G>C 0.131989 0.0119 0.190835 0.1615 0.0134 Uncertain 1_26526439_A->G 1 26526439 26526439 A G snp 712.77 0/1 99 64 35 29 0.45 exonic rs17257155 CATSPER4 AU nonsynonymous SNV NM_198137 exon7 c.A877G p.I293V 0.132588 0.0119 0.190835 0.1621 0.0133 0.11 T 0.0 P -0.592 T 0.051 T 0.033 T Pathogenic 1_26529121_G->C 1 26529121 26529121 G C snp 313.77 0/1 93 13 4 9 0.69 downstream rs6691747 CATSPER4 AU 0.440495 0.4008 Uncertain 1_26583998_T->C 1 26583998 26583998 T C snp 219.84 1/1 18 7 0 7 1.0 intronic rs4659417 CEP85 AU NM_001281517 exon4 c.17813-89T>C 0.726438 0.4583 Uncertain 1_26597435_G->A 1 26597435 26597435 G A snp 3471.77 1/1 99 132 0 132 1.0 intronic rs4659419 CEP85 AU NM_001281517 exon9 c.31230-69G>A 0.726438 0.4583 Uncertain 1_26597673_G->A 1 26597673 26597673 G A snp 237.77 0/1 97 10 3 7 0.7 intronic rs11247894 CEP85 AU NM_001281518 exon3 c.39+75G>A 0.525958 0.4077 Uncertain 1_26601385_G->A 1 26601385 26601385 G A snp 1385.77 0/1 99 123 65 58 0.47 intronic rs3795685 CEP85 AU NM_001281518 exon5 c.3895-69G>A 0.390176 0.3095 Uncertain 1_26608769_C->T 1 26608769 26608769 C T snp 238.77 0/1 99 32 18 14 0.44 downstream rs35567724 SH3BGRL3 AU 0.172524 0.126 0.120419 0.1776 0.2679 Uncertain 1_26608843_C->A 1 26608843 26608843 C A snp 76.77 0/1 99 29 21 8 0.28 exonic rs6667693 UBXN11 AU nonsynonymous SNV NM_001077262 exon11 c.G1150T p.G384C 0.0063 0.0012 0.01 T 1.000 N -1.048 T 1.0 D 0.992 D Pathogenic 1_26608852_G->A 1 26608852 26608852 G A snp 243.77 0/1 99 32 22 10 0.31 exonic rs61775089 UBXN11 AU nonsynonymous SNV NM_001077262 exon11 c.C1141T p.P381S 0.0010 0 1 T 0.000 P -0.936 T Pathogenic 1_26608854_CCGGGACCGGGACCGGGACTGGGGCCGGGA->- 1 26608854 26608883 CCGGGACCGGGACCGGGACTGGGGCCGGGA - indel 2276.73 0/1 99 34 10 24 0.71 exonic rs758272984 UBXN11 AU nonframeshift deletion NM_001077262 exon11 c.1110_1139del p.370_380del 0.0059 0.0018 ID=COSM907610;OCCURENCE=1(endometrium) Uncertain 1_26608896_C->G 1 26608896 26608896 C G snp 526.77 0/1 99 63 42 21 0.33 exonic rs72872911 UBXN11 AU nonsynonymous SNV NM_001077262 exon11 c.G1097C p.C366S 0.142460 0.0065 0.0002 0.86 T 0.000 P -0.980 T 0.0 T 0.0 T Pathogenic 1_26609093_A->T 1 26609093 26609093 A T snp 2796.77 0/1 99 233 114 119 0.51 intronic rs72872912 UBXN11 AU NM_001077262 exon1 c.271+33A>T 0.172724 0.126 0.134245 0.1426 0.1385 Uncertain 1_26609259_C->T 1 26609259 26609259 C T snp 2920.77 0/1 99 250 127 123 0.49 exonic rs7522905 UBXN11 AU synonymous SNV NM_001077262 exon10 c.G813A p.T271T 0.384585 0.3095 0.580952 0.5273 0.29 Uncertain 1_26609307_G->T 1 26609307 26609307 G T snp 5554.77 1/1 99 205 2 203 0.99 intronic rs6598952 UBXN11 AU NM_001077262 exon2 c.491+27G>T 0.726238 0.4583 0.918634 0.8272 0.4453 Uncertain 1_26610891_A->C 1 26610891 26610891 A C snp 4198.77 1/1 99 142 0 142 1.0 exonic rs4332350 UBXN11 AU nonsynonymous SNV NM_001077262 exon7 c.T575G p.L192R 0.727037 0.4603 0.919189 0.8276 0.4478 0.55 T 0.000 P -1.021 T 0.0 T 0.0 T Pathogenic 1_26612042_A->G 1 26612042 26612042 A G snp 1233.77 1/1 51 49 1 48 0.98 intronic rs11247898 UBXN11 AU NM_001077262 exon6 c.3243+10A>G 0.722843 0.4583 0.918516 0.8326 0.4549 Uncertain 1_26620846_-->A 1 26620846 26620846 - A indel 7320.73 1/1 99 163 0 163 1.0 intronic rs3832184 UBXN11 AU NM_145345 exon8 c.12033+24insA 0.719449 0.4583 0.913563 0.8237 0.4463 Uncertain 1_26624327_G->A 1 26624327 26624327 G A snp 80.28 1/1 9 3 0 3 1.0 intronic rs4290051 UBXN11 AU NM_145345 exon11 c.15663-125G>A 0.719848 0.4603 Uncertain 1_26627283_A->G 1 26627283 26627283 A G snp 341.78 1/1 27 9 0 9 1.0 intronic rs4291487 UBXN11 AU NM_001077262 exon8 c.18627-133A>G 0.720048 0.4613 Uncertain 1_26627478_T->C 1 26627478 26627478 T C snp 7451.77 1/1 99 250 0 250 1.0 exonic rs2276712 UBXN11 AU synonymous SNV NM_001077262 exon4 c.A138G p.S46S 0.567292 0.4385 0.727583 0.6687 0.4300 Uncertain 1_26629465_G->C 1 26629465 26629465 G C snp 573.77 1/1 42 21 0 21 1.0 intronic rs11803933 UBXN11 AU NM_001077262 exon10 c.20620+56G>C 0.567891 0.4385 Uncertain 1_26646574_G->A 1 26646574 26646574 G A snp 430.77 0/1 99 33 16 17 0.52 intronic rs112252579 CD52 AU NM_001803 exon2 c.2153-87G>A 0.167532 0.128 Uncertain 1_26646726_A->G 1 26646726 26646726 A G snp 3410.77 1/1 99 126 0 126 1.0 exonic rs1071849 CD52 AU nonsynonymous SNV NM_001803 exon2 c.A119G p.N40S 0.580671 0.4415 0.732047 0.6711 0.4292 0.53 T 0.0 P -1.013 T 0.009 T 0.007 T Pathogenic 1_26646730_A->G 1 26646730 26646730 A G snp 3302.77 1/1 99 126 1 125 0.99 exonic rs17645 CD52 AU nonsynonymous SNV NM_001803 exon2 c.A123G p.I41M 0.580671 0.4415 0.732047 0.6711 0.4293 0.54 T 0.0 P -0.972 T 0.0 T 0.001 T Pathogenic 1_26648551_G->C 1 26648551 26648551 G C snp 7347.77 1/1 99 250 0 250 1.0 splicing rs11247913 AIM1L AU NM_001039775 exon1 c.89+4G>C 0.559704 0.4405 0.707904 0.6672 0.4344 Pathogenic 1_26648826_G->A 1 26648826 26648826 G A snp 890.77 0/1 99 56 24 32 0.57 intronic rs60799739 AIM1L AU NM_001039775 exon2 c.356+12G>A 0.135982 0.126 0.102369 0.1288 0.1412 Uncertain 1_26650550_C->A 1 26650550 26650550 C A snp 1153.77 0/1 99 96 51 45 0.47 intronic rs11247915 AIM1L AU NM_001039775 exon3 c.2184-92C>A 0.309904 0.0724 Uncertain 1_26654937_G->C 1 26654937 26654937 G C snp 4559.77 1/1 99 161 0 161 1.0 intronic rs11589684 AIM1L AU NM_001039775 exon4 c.6365+114G>C 0.678914 0.4484 Uncertain 1_26655208_C->T 1 26655208 26655208 C T snp 2816.77 1/1 99 89 0 89 1.0 intronic rs11247916 AIM1L AU NM_001039775 exon5 c.6766-16C>T 0.457069 0.1825 0.561356 0.4883 0.1756 Uncertain 1_26655462_C->T 1 26655462 26655462 C T snp 1533.77 1/1 99 48 0 48 1.0 intronic rs12057290 AIM1L AU NM_001039775 exon5 c.6906+98C>T 0.456669 0.1806 Uncertain 1_26655507_C->A 1 26655507 26655507 C A snp 304.77 0/1 99 17 6 11 0.65 intronic rs11247917 AIM1L AU NM_001039775 exon5 c.6906+143C>A 0.282548 0.0556 Uncertain 1_26662774_C->T 1 26662774 26662774 C T snp 5538.77 1/1 99 207 0 207 1.0 intronic rs7517559 AIM1L AU NM_001039775 exon8 c.14370-54C>T 0.671126 0.4464 0.826763 Uncertain 1_26663362_C->T 1 26663362 26663362 C T snp 2708.77 1/1 99 93 0 93 1.0 exonic rs10751735 AIM1L AU nonsynonymous SNV NM_001039775 exon11 c.G3881A p.S1294N 0.455871 0.1825 0.560932 0.5604 0.2759 0.37 T 0.000 P -0.943 T 0.001 T 0.006 T Pathogenic 1_26664907_A->C 1 26664907 26664907 A C snp 468.77 0/1 99 58 35 23 0.4 exonic rs151324745 AIM1L AU nonsynonymous SNV NM_001039775 exon7 c.T3406G p.Y1136D 0.00139776 0.0069 0.000154 0.0018 0.0205 0 D 1 D 0.703 D 1.0 D 0.999 D Pathogenic 1_26664968_C->T 1 26664968 26664968 C T snp 908.77 0/1 99 69 28 41 0.59 exonic rs11247919 AIM1L AU synonymous SNV NM_001039775 exon7 c.G3345A p.L1115L 0.286142 0.0556 0.420806 0.3550 0.0338 1.0 P -0.899 T Likely benign 1_26665991_C->G 1 26665991 26665991 C G snp 174.9 1/1 15 5 0 5 1.0 intronic rs6675432 AIM1L AU NM_001039775 exon15 c.17462+71C>G 0.478634 0.2014 Uncertain 1_26670752_C->T 1 26670752 26670752 C T snp 2830.77 0/1 99 229 110 119 0.52 exonic rs11247923 AIM1L AU synonymous SNV NM_001039775 exon2 c.G2397A p.T799T 0.204872 0.1438 0.2574 0.1528 Uncertain 1_26671084_G->T 1 26671084 26671084 G T snp 2373.77 0/1 99 167 70 97 0.58 exonic rs12562454 AIM1L AU nonsynonymous SNV NM_001039775 exon2 c.C2065A p.P689T 0.180911 0.1458 0.2342 0.1518 Pathogenic 1_26671248_A->G 1 26671248 26671248 A G snp 945.77 0/1 99 72 33 39 0.54 exonic rs57268417 AIM1L AU nonsynonymous SNV NM_001039775 exon2 c.T1901C p.V634A 0.18111 0.1458 0.2290 0.1549 Pathogenic 1_26671556_G->A 1 26671556 26671556 G A snp 63.77 0/1 92 48 43 5 0.1 exonic rs12119322 AIM1L AU synonymous SNV NM_001039775 exon2 c.C1593T p.V531V Uncertain 1_26671575_A->G 1 26671575 26671575 A G snp 135.77 0/1 99 42 34 8 0.19 exonic rs11579834 AIM1L AU nonsynonymous SNV NM_001039775 exon2 c.T1574C p.F525S 0.505791 0.3274 0.0101 0 Pathogenic 1_26671578_A->G 1 26671578 26671578 A G snp 97.77 0/1 99 39 30 9 0.23 exonic rs11579835 AIM1L AU nonsynonymous SNV NM_001039775 exon2 c.T1571C p.L524S 0.504992 0.3214 0.0122 0 Pathogenic 1_26671594_T->C 1 26671594 26671594 T C snp 67.77 0/1 96 48 38 10 0.21 exonic AIM1L AU nonsynonymous SNV NM_001039775 exon2 c.A1555G p.S519G Pathogenic 1_26671625_A->G 1 26671625 26671625 A G snp 152.77 0/1 99 61 50 11 0.18 exonic rs778892737 AIM1L AU synonymous SNV NM_001039775 exon2 c.T1524C p.S508S 5.267e-05 0 Uncertain 1_26673076_G->A 1 26673076 26673076 G A snp 3725.77 0/1 99 239 97 142 0.59 exonic rs11247924 AIM1L AU nonsynonymous SNV NM_001039775 exon2 c.C73T p.R25W 0.179513 0.1458 0.176338 0.2614 0.2421 0.04 T 0.013 P -1.061 T 1.0 D 0.994 D Pathogenic 1_26673108_C->T 1 26673108 26673108 C T snp 3398.77 0/1 99 230 95 135 0.59 exonic rs11247925 AIM1L AU nonsynonymous SNV NM_001039775 exon2 c.G41A p.R14Q 0.179313 0.1438 0.174283 0.2721 0.2383 1 T 0.001 P -1.013 T 0.708 T 0.087 P Pathogenic 1_26673220_A->G 1 26673220 26673220 A G snp 435.77 0/1 99 26 12 14 0.54 intronic rs11247926 AIM1L AU NM_001039775 exon19 c.24745+17A>G 0.210264 0.1458 Uncertain 1_26689659_G->A 1 26689659 26689659 G A snp 1344.77 0/1 99 107 53 54 0.5 intronic rs11247932 ZNF683 AU NM_173574 exon2 c.1504+14G>A 0.253994 0.2778 0.286560 0.3294 0.2640 Uncertain 1_26690864_G->T 1 26690864 26690864 G T snp 56.74 1/1 6 2 0 2 1.0 intronic rs7534104 ZNF683 AU NM_173574 exon3 c.2881-158G>T 0.769768 0.8998 Uncertain 1_26691174_C->A 1 26691174 26691174 C A snp 2264.77 0/1 99 173 76 97 0.56 exonic rs11247933 ZNF683 AU nonsynonymous SNV NM_001114759 exon4 c.G863T p.R288L 0.263379 0.2778 0.292865 0.3251 0.2583 0.69 T 0.0 P -0.933 T 0.006 T 0.017 T Pathogenic 1_26700574_C->G 1 26700574 26700574 C G snp 213.77 0/1 99 24 14 10 0.42 intergenic rs533758450 ZNF683 AU 0.00139776 0.0069 Uncertain 1_26700795_T->C 1 26700795 26700795 T C snp 2723.77 1/1 99 109 0 109 1.0 intergenic rs7520030 ZNF683 AU 0.992412 1 0.9980 1 Uncertain 1_26752129_A->G 1 26752129 26752129 A G snp 146.77 0/1 99 10 5 5 0.5 intronic rs35015532 LIN28A AU NM_024674 exon3 c.14596+151A>G 0.196486 0.128 Uncertain 1_26752992_T->C 1 26752992 26752992 T C snp 2420.77 1/1 99 80 0 80 1.0 UTR3 rs4659441 LIN28A AU 0.843251 0.8631 0.818273 0.8288 0.8853 Uncertain 1_26786627_G->A 1 26786627 26786627 G A snp 1264.77 0/1 99 111 54 57 0.51 exonic rs3816539 DHDDS AR nonsynonymous SNV NM_024887 exon8 c.G757A p.V253M 0.455272 0.7093 0.287483 0.3133 0.7230 0.06 T 0.0 P -0.970 T 0.002 T 0.006 T Pathogenic 1_26856462_T->G 1 26856462 26856462 T G snp 630.77 1/1 45 26 0 26 1.0 exonic rs11800553 RPS6KA1 AU synonymous SNV NM_002953 exon1 c.T51G p.P17P 0.936701 0.9583 0.9212 0.9478 Uncertain 1_26869610_G->A 1 26869610 26869610 G A snp 2413.77 0/1 99 219 120 99 0.45 intronic rs921893 RPS6KA1 AU NM_002953 exon3 c.16946-3747G>A 0.72504 0.7887 0.6692 0.7941 Uncertain 1_26870730_C->G 1 26870730 26870730 C G snp 1261.77 0/1 99 101 49 52 0.51 intronic rs1466286 RPS6KA1 AU NM_002953 exon3 c.16946-2627C>G 0.507987 0.7698 Uncertain 1_26872554_A->G 1 26872554 26872554 A G snp 800.77 0/1 99 64 32 32 0.5 intronic rs12723936 RPS6KA1 AU NM_001006665 exon1 c.135+28A>G 0.505591 0.7659 0.321286 0.3825 0.7611 Uncertain 1_26873245_A->G 1 26873245 26873245 A G snp 127.77 0/1 99 17 12 5 0.29 intronic rs2278978 RPS6KA1 AU NM_002953 exon3 c.16946-112A>G 0.781949 0.7867 Uncertain 1_26873700_C->T 1 26873700 26873700 C T snp 878.77 0/1 99 105 65 40 0.38 exonic rs12028491 RPS6KA1 AU synonymous SNV NM_001006665 exon3 c.C273T p.V91V 0.0163738 0.0714 0.000538 0.0112 0.0873 Uncertain 1_26879376_T->C 1 26879376 26879376 T C snp 1514.77 0/1 99 178 100 78 0.44 intronic rs7543005 RPS6KA1 AU NM_002953 exon7 c.23470-505T>C 0.509385 0.7639 0.4068 0.75 Uncertain 1_26879792_T->C 1 26879792 26879792 T C snp 110.77 0/1 99 8 4 4 0.5 intronic rs4970489 RPS6KA1 AU NM_002953 exon7 c.23470-89T>C 0.722843 0.7847 Uncertain 1_26879920_T->C 1 26879920 26879920 T C snp 3619.77 1/1 99 135 0 135 1.0 exonic rs4970490 RPS6KA1 AU synonymous SNV NM_001006665 exon6 c.T534C p.A178A 0.991214 1 0.991927 0.9978 1 Uncertain 1_26880989_T->C 1 26880989 26880989 T C snp 1392.77 0/1 99 77 35 42 0.55 intronic rs873151 RPS6KA1 AU NM_002953 exon9 c.24675-97T>C 0.459665 0.7639 0.272011 0.3569 0.7656 Uncertain 1_26881806_C->A 1 26881806 26881806 C A snp 619.77 0/1 99 53 25 28 0.53 intronic rs897641 RPS6KA1 AU NM_002953 exon10 c.25301+94C>A 0.509784 0.754 Uncertain 1_26883377_G->A 1 26883377 26883377 G A snp 1264.77 0/1 99 97 54 43 0.44 intronic rs2290590 RPS6KA1 AU NM_002953 exon13 c.27077-111G>A 0.0161741 0.0079 Uncertain 1_26883511_A->C 1 26883511 26883511 A C snp 2546.77 0/1 99 250 144 106 0.42 exonic rs2229712 RPS6KA1 AU nonsynonymous SNV NM_001006665 exon12 c.A1031C p.K344T 0.160942 0.1855 0.173766 0.2115 0.1750 0.09 T 1.000 P -1.031 T 0.295 T 0.104 T Pathogenic 1_26887150_A->G 1 26887150 26887150 A G snp 369.77 0/1 99 36 20 16 0.44 intronic rs34062688 RPS6KA1 AU NM_002953 exon15 c.30805-66A>G 0.511382 0.7599 Uncertain 1_26887592_T->C 1 26887592 26887592 T C snp 840.77 0/1 99 54 18 36 0.67 exonic rs1064196 RPS6KA1 AU synonymous SNV NM_001006665 exon15 c.T1425C p.Y475Y 0.510383 0.756 0.330617 0.3793 0.7558 Uncertain 1_26898142_A->G 1 26898142 26898142 A G snp 2747.77 0/1 99 211 101 110 0.52 intronic rs188158 RPS6KA1 AU NM_002953 exon18 c.41690+41A>G 0.538538 0.755 0.348431 0.4052 0.7627 Uncertain 1_26898956_T->C 1 26898956 26898956 T C snp 65.77 0/1 94 10 7 3 0.3 intronic rs282176 RPS6KA1 AU NM_002953 exon20 c.42373+172T>C 0.564297 0.7877 Uncertain 1_26899687_C->A 1 26899687 26899687 C A snp 1081.77 0/1 99 84 41 43 0.51 intronic rs282178 RPS6KA1 AU NM_002953 exon21 c.43303-27C>A 0.329073 0.4623 0.249500 0.2927 0.4412 Uncertain 1_26900735_C->G 1 26900735 26900735 C G snp 1419.77 0/1 99 110 52 58 0.53 UTR3 rs282179 RPS6KA1 AU 0.785942 0.8492 0.757189 0.7790 0.8475 Uncertain 1_26901090_C->T 1 26901090 26901090 C T snp 284.77 0/1 99 21 11 10 0.48 UTR3 rs11113 RPS6KA1 AU 0.651757 0.7133 Uncertain 1_27088546_A->T 1 27088546 27088546 A T snp 140.77 0/1 99 21 15 6 0.29 intronic rs113319329 ARID1A AD NM_139135 exon7 c.65748-96A>T 0.0279553 0.0079 Uncertain 1_27094156_A->G 1 27094156 27094156 A G snp 59.74 1/1 6 3 0 3 1.0 intronic rs34502618 ARID1A AD NM_139135 exon11 c.71386-124A>G 0.081869 0.0367 Uncertain 1_27097515_A->G 1 27097515 27097515 A G snp 238.77 0/1 99 24 14 10 0.42 intronic rs76490152 ARID1A AD NM_139135 exon12 c.74715-94A>G 0.0283546 0.0079 Uncertain 1_27153703_A->G 1 27153703 27153703 A G snp 158.77 0/1 99 13 6 7 0.54 intronic rs112408368 ZDHHC18 AU NM_032283 exon1 c.335+73A>G 0.0307508 0.0079 Uncertain 1_27158844_G->T 1 27158844 27158844 G T snp 839.77 0/1 99 77 43 34 0.44 intronic rs34924059 ZDHHC18 AU NM_032283 exon2 c.5642-93G>T 0.0836661 0.0327 Uncertain 1_27174976_C->G 1 27174976 27174976 C G snp 498.77 0/1 99 42 24 18 0.43 intronic rs17370283 ZDHHC18 AU NM_032283 exon3 c.21803-122C>G 0.0301518 0.0079 Uncertain 1_27179062_G->T 1 27179062 27179062 G T snp 276.77 0/1 99 20 7 13 0.65 intronic rs10902645 ZDHHC18 AU NM_032283 exon7 c.25948-181G>T 0.379992 0.8532 Uncertain 1_27210721_T->C 1 27210721 27210721 T C snp 1624.77 1/1 99 59 0 59 1.0 exonic rs3170660 GPN2 AU nonsynonymous SNV NM_018066 exon4 c.A790G p.R264G 0.873203 0.997 0.724896 0.7320 0.9985 1 T 0.083 P -0.920 T 0.0 T 0.0 T Pathogenic 1_27220625_T->C 1 27220625 27220625 T C snp 55.77 0/1 84 13 10 3 0.23 intronic rs78128878 GPATCH3 AU NM_022078 exon5 c.3226-101T>C 0.0325479 0.0119 Uncertain 1_27238150_A->G 1 27238150 27238150 A G snp 83.78 0/1 24 4 1 3 0.75 UTR3 rs7504 NR0B2 AR,AD,AO 0.47524 0.0526 Uncertain 1_27238235_G->C 1 27238235 27238235 G C snp 569.77 0/1 99 43 19 24 0.56 UTR3 rs41303639 NR0B2 AR,AD,AO 0.048722 0.0169 Uncertain 1_27248273_C->A 1 27248273 27248273 C A snp 46.77 0/1 70 5 2 3 0.6 UTR5 rs41311274 NUDC AU 0.0325479 0.0119 Uncertain 1_27320356_T->C 1 27320356 27320356 T C snp 1458.77 1/1 99 59 0 59 1.0 exonic rs6689941 TRNP1 AU nonsynonymous SNV NM_001013642 exon1 c.T79C p.W27R 0.982029 1 0.987873 0.9947 1 0.87 T 0.0 P -1.004 T 0.0 T 0.0 T Pathogenic 1_27339103_G->T 1 27339103 27339103 G T snp 138.77 0/1 99 19 14 5 0.26 exonic rs4970471 FAM46B AU nonsynonymous SNV NM_052943 exon1 c.C59A p.T20K 0.335863 0.7232 0.3054 0.7381 0.04 T 0.0 P -0.914 T 0.001 T 0.001 T Pathogenic 1_27426624_C->T 1 27426624 27426624 C T snp 65.77 0/1 94 9 5 4 0.44 UTR3 rs200099613 SLC9A1 AR 0.00259585 0.0119 Uncertain 1_27426796_T->C 1 27426796 27426796 T C snp 1796.77 1/1 99 59 0 59 1.0 UTR3 rs4266911 SLC9A1 AR 0.98742 1 0.969928 0.9685 1 Uncertain 1_27427041_T->C 1 27427041 27427041 T C snp 5485.77 1/1 99 207 0 207 1.0 exonic rs4418629 SLC9A1 AR synonymous SNV NM_003047 exon12 c.A2205G p.E735E 0.989217 1 0.971321 0.9694 1 Uncertain 1_27609980_T->G 1 27609980 27609980 T G snp 3468.77 1/1 99 118 0 118 1.0 intronic rs6670124 WDTC1 AU NM_015023 exon5 c.22395+40T>G 0.977835 1 0.976542 0.9917 0.9991 Uncertain 1_27610069_C->T 1 27610069 27610069 C T snp 501.77 1/1 39 15 0 15 1.0 intronic rs10902656 WDTC1 AU NM_015023 exon5 c.22395+129C>T 0.721645 0.8651 Uncertain 1_27622596_A->G 1 27622596 27622596 A G snp 476.77 1/1 36 12 0 12 1.0 intronic rs4970517 WDTC1 AU NM_015023 exon10 c.35271-220A>G 0.849042 0.9861 Uncertain 1_27659965_C->T 1 27659965 27659965 C T snp 296.78 1/1 24 8 0 8 1.0 intronic rs6687283 TMEM222 AU NM_032125 exon4 c.11760-483C>T 0.967053 1 0.9926 1 Uncertain 1_27660340_T->C 1 27660340 27660340 T C snp 180.77 0/1 99 14 8 6 0.43 intronic rs12758154 TMEM222 AU NM_032125 exon4 c.11760-108T>C 0.29992 0.2143 Uncertain 1_27660568_G->A 1 27660568 27660568 G A snp 3192.79 0/1 99 250 128 122 0.49 intronic rs35771571 TMEM222 AU NM_032125 exon4 c.11857+23G>A 0.359625 0.2133 0.427495 0.3862 0.2154 Uncertain 1_27661037_T->C 1 27661037 27661037 T C snp 1133.77 0/1 99 75 35 40 0.53 intronic rs12565684 TMEM222 AU NM_032125 exon5 c.12084+265T>C 0.265176 0.2133 Uncertain 1_27661755_-->GTA 1 27661755 27661755 - GTA indel 526.73 0/1 99 20 10 10 0.5 intronic rs56322013 TMEM222 AU NM_032125 exon6 c.13181-114insGTA 0.297524 0.2143 Uncertain 1_27676925_G->A 1 27676925 27676925 G A snp 3091.77 0/1 99 250 125 125 0.5 exonic rs6702341 SYTL1 AU synonymous SNV NM_001193308 exon10 c.G954A p.K318K 0.244808 0.1786 0.305859 0.3132 0.1726 1.0 P -0.917 T Likely benign 1_27677930_G->A 1 27677930 27677930 G A snp 993.77 0/1 99 98 53 45 0.46 intronic rs12561870 SYTL1 AU NM_001193308 exon13 c.6121-16G>A 0.0161741 0.0308 0.010125 0.0193 0.0266 Uncertain 1_27679692_A->G 1 27679692 27679692 A G snp 774.77 0/1 99 55 27 28 0.51 intronic rs11247639 SYTL1 AU NM_001193308 exon14 c.7948-81A>G 0.481629 0.253 Uncertain 1_27679797_A->G 1 27679797 27679797 A G snp 2469.77 0/1 99 212 106 106 0.5 exonic rs3813795 SYTL1 AU nonsynonymous SNV NM_001193308 exon14 c.A1367G p.Q456R 0.482228 0.25 0.599339 0.6508 0.3327 1 T 0.0 P -0.999 T 0.0 T 0.001 T Pathogenic 1_27679954_G->A 1 27679954 27679954 G A snp 1185.77 0/1 99 102 57 45 0.44 exonic rs1128918 SYTL1 AU synonymous SNV NM_001193308 exon14 c.G1524A p.G508G 0.241014 0.1756 0.294647 0.3509 0.1983 Uncertain 1_27680292_A->G 1 27680292 27680292 A G snp 948.77 0/1 99 98 57 41 0.42 exonic rs8533 SYTL1 AU synonymous SNV NM_001193308 exon15 c.A1638G p.E546E 0.546326 0.2431 0.717515 0.6224 0.2405 Uncertain 1_27684396_G->A 1 27684396 27684396 G A snp 385.77 0/1 99 33 19 14 0.42 intronic rs4970520 MAP3K6 AU NM_004672 exon8 c.2486+29G>A 0.260184 0.5089 0.151808 0.2860 0.5220 Uncertain 1_27686063_G->C 1 27686063 27686063 G C snp 941.77 1/1 69 29 0 29 1.0 intronic rs7521552 MAP3K6 AU NM_004672 exon12 c.4132+50G>C 0.988019 1 0.985468 0.9939 1 Uncertain 1_27687366_C->G 1 27687366 27687366 C G snp 3853.77 1/1 99 145 0 145 1.0 intronic rs35733093 MAP3K6 AU NM_004672 exon15 c.5448+37C>G 0.310304 0.5546 0.267021 0.3325 0.5270 Uncertain 1_27688633_G->A 1 27688633 27688633 G A snp 4667.77 1/1 99 169 1 168 0.99 exonic rs1138294 MAP3K6 AU nonsynonymous SNV NM_004672 exon9 c.C1364T p.T455I 0.310503 0.5397 0.281793 0.3293 0.5177 0.17 T 0.0 P -0.927 T 0.0 T 0.001 T Pathogenic 1_27696011_C->T 1 27696011 27696011 C T snp 1528.77 1/1 99 44 0 44 1.0 intronic rs10218730 FCN3 AR NM_173452 exon1 c.242+43C>T 0.992412 1 0.992002 0.9976 1 Uncertain 1_27699449_A->T 1 27699449 27699449 A T snp 52.74 1/1 6 2 0 2 1.0 intronic rs10794501 FCN3 AR NM_173452 exon4 c.3900-177A>T 0.72484 0.9077 Uncertain 1_27705915_C->T 1 27705915 27705915 C T snp 470.77 0/1 99 50 27 23 0.46 UTR3 rs2273269 CD164L2 AU 0.180112 0.3829 Uncertain 1_27709020_T->C 1 27709020 27709020 T C snp 1039.77 0/1 99 94 53 41 0.44 exonic rs2504779 CD164L2 AU nonsynonymous SNV NM_207397 exon2 c.A226G p.M76V 0.336661 0.3998 0.242888 0.1798 0.3688 1 T 0.000 P -0.918 T 0.0 T 0.0 T Pathogenic 1_27720178_T->C 1 27720178 27720178 T C snp 416.77 0/1 99 33 16 17 0.52 intronic rs2504786 GPR3 AU 0.498602 0.4603 Uncertain 1_27736478_T->C 1 27736478 27736478 T C snp 340.77 0/1 99 33 16 17 0.52 exonic rs2273270 WASF2 AU synonymous SNV NM_006990 exon8 c.A1047G p.P349P 0.146366 0.3879 0.020683 0.0603 0.3565 Uncertain 1_27875824_C->T 1 27875824 27875824 C T snp 4357.77 1/1 99 160 0 160 1.0 exonic rs4908364 AHDC1 AD nonsynonymous SNV NM_001029882 exon6 c.G2803A p.A935T 0.998003 1 0.994925 0.9956 1 1 T 0.0 P -0.955 T 0.0 T 0.0 T Pathogenic 1_27876482_C->A 1 27876482 27876482 C A snp 1281.77 0/1 99 117 62 55 0.47 exonic rs2076457 AHDC1 AD synonymous SNV NM_001029882 exon6 c.G2145T p.P715P 0.792931 0.8204 0.716890 0.6813 0.7942 Uncertain 1_27944000_T->A 1 27944000 27944000 T A snp 421.77 1/1 33 11 0 11 1.0 intronic rs1292089 FGR AU NM_001042747 exon8 c.4383+193T>A 0.944489 0.9712 Uncertain 1_27995077_G->T 1 27995077 27995077 G T snp 869.77 0/1 99 69 31 38 0.55 intronic rs56015130 IFI6 AU NM_002038 exon3 c.2155+31G>T 0.744409 0.7401 0.818633 0.9109 0.7692 Uncertain 1_27995557_T->C 1 27995557 27995557 T C snp 331.78 1/1 27 10 0 10 1.0 intronic rs112730044 IFI6 AU NM_022873 exon4 c.2840-174T>C 0.529353 0.5129 Uncertain 1_27995565_C->T 1 27995565 27995565 C T snp 464.77 1/1 36 13 0 13 1.0 intronic rs71514291 IFI6 AU NM_022873 exon4 c.2840-166C>T Uncertain 1_28058934_G->A 1 28058934 28058934 G A snp 65.77 0/1 94 14 11 3 0.21 intronic rs76507279 FAM76A AU NM_001143914 exon3 c.6522-179G>A 0.19389 0.2669 Uncertain 1_28058990_G->T 1 28058990 28058990 G T snp 712.77 0/1 99 76 43 33 0.43 intronic rs74063884 FAM76A AU NM_001143914 exon3 c.6522-123G>T 0.19389 0.2669 0.112790 Uncertain 1_28060574_A->G 1 28060574 28060574 A G snp 2095.77 0/1 99 215 114 101 0.47 exonic rs6670793 FAM76A AU synonymous SNV NM_001143914 exon4 c.A234G p.A78A 0.252995 0.2669 0.184146 0.0929 0.2651 Uncertain 1_28086955_C->A 1 28086955 28086955 C A snp 1078.77 1/1 81 36 0 36 1.0 intronic rs10902671 FAM76A AU NM_001143914 exon8 c.34414-50C>A 0.977835 1 0.946846 0.9514 0.9999 Uncertain 1_28116000_A->G 1 28116000 28116000 A G snp 227.77 0/1 99 16 9 7 0.44 intronic rs2294229 STX12 AU NM_177424 exon2 c.16254-72A>G 0.253994 0.2688 Uncertain 1_28173614_C->G 1 28173614 28173614 C G snp 1126.77 0/1 99 109 60 49 0.45 intronic rs12567719 PPP1R8 AU NM_002713 exon5 c.30+11C>G 0.113818 0.2679 0.045825 0.0555 0.2613 Uncertain 1_28206588_T->C 1 28206588 28206588 T C snp 1629.77 0/1 99 131 64 67 0.51 intronic rs12568383 THEMIS2 AU NM_001105556 exon3 c.7483+23T>C 0.273962 0.3919 0.295633 0.3673 0.4354 Uncertain 1_28209305_A->G 1 28209305 28209305 A G snp 1662.77 0/1 99 160 95 65 0.41 exonic rs3766398 THEMIS2 AU synonymous SNV NM_001105556 exon4 c.A1470G p.L490L 0.472444 0.5099 0.518830 0.5906 0.5385 0.252 P Uncertain 1_28209362_T->C 1 28209362 28209362 T C snp 1525.77 0/1 99 141 82 59 0.42 exonic rs3766399 THEMIS2 AU synonymous SNV NM_001105556 exon4 c.T1527C p.V509V 0.474441 0.504 0.524654 0.5908 0.5260 1.000 P -1.089 T Likely benign 1_28209366_A->G 1 28209366 28209366 A G snp 1518.77 0/1 99 136 76 60 0.44 exonic rs3766400 THEMIS2 AU nonsynonymous SNV NM_001105556 exon4 c.A1531G p.K511E 0.450479 0.501 0.480775 0.5829 0.5262 0.29 T 0.000 P -0.933 T 0.0 T 0.0 T Pathogenic 1_28211650_T->C 1 28211650 28211650 T C snp 471.77 0/1 99 37 20 17 0.46 intronic rs1467464 THEMIS2 AU NM_001105556 exon5 c.12723-155T>C 0.458267 0.4921 Uncertain 1_28212272_G->A 1 28212272 28212272 G A snp 1280.77 0/1 99 94 46 48 0.51 intronic rs11247705 THEMIS2 AU NM_001105556 exon6 c.13295-105G>A 0.480032 0.497 Uncertain 1_28224312_C->T 1 28224312 28224312 C T snp 146.77 0/1 99 14 8 6 0.43 intronic rs2295367 RPA2 AU NM_002946 exon5 c.5545+94C>T 0.471845 0.4881 Uncertain 1_28268573_C->T 1 28268573 28268573 C T snp 82.77 0/1 99 7 3 4 0.57 intronic rs10902678 SMPDL3B AU NM_014474 exon2 c.10048-3169C>T 0.694089 0.7877 Uncertain 1_28268706_G->A 1 28268706 28268706 G A snp 793.77 0/1 99 91 56 35 0.38 intronic rs4908341 SMPDL3B AU NM_014474 exon2 c.10048-3036G>A 0.457069 0.5238 Uncertain 1_28268793_G->T 1 28268793 28268793 G T snp 1747.77 0/1 99 150 77 73 0.49 intronic rs74601865 SMPDL3B AU NM_014474 exon2 c.10048-2949G>T 0.00179712 0.0089 0.0002 0.0062 Uncertain 1_28268833_-->G 1 28268833 28268833 - G indel 2467.73 0/1 99 137 67 70 0.51 intronic rs11386058 SMPDL3B AU NM_014474 exon2 c.10048-2909insG 0.458267 0.5268 0.5603 0.5266 Uncertain 1_28268835_A->C 1 28268835 28268835 A C snp 1389.77 0/1 99 131 67 64 0.49 intronic rs5018921 SMPDL3B AU NM_014474 exon2 c.10048-2907A>C 0.694289 0.7877 0.7540 0.7735 Uncertain 1_28282292_T->C 1 28282292 28282292 T C snp 1655.77 0/1 99 125 56 69 0.55 exonic rs3813803 SMPDL3B AU nonsynonymous SNV NM_001009568 exon6 c.T788C p.V263A 0.186302 0.2123 0.231662 0.2507 0.2648 0.06 T 0.580 P -1.516 T 0.992 D 0.814 D Pathogenic 1_28282819_T->C 1 28282819 28282819 T C snp 1774.77 1/1 99 48 0 48 1.0 UTR3 rs4908381 SMPDL3B AU 0.932508 1 Uncertain 1_28290231_C->G 1 28290231 28290231 C G snp 320.77 0/1 99 22 12 10 0.45 intronic rs4373781 XKR8 AU NM_018053 exon2 c.3624+27C>G 0.827476 0.7252 0.908553 0.9126 0.7532 Uncertain 1_28305214_C->T 1 28305214 28305214 C T snp 41.77 0/1 70 4 2 2 0.5 intronic rs60161336 EYA3 AU NM_001282562 exon2 c.4009+229C>T 0.129992 0.2639 Uncertain 1_28323719_G->- 1 28323719 28323719 G - indel 1468.73 0/1 99 91 51 40 0.44 intronic rs3831309 EYA3 AU NM_001282562 exon6 c.22854-111delG 0.145767 0.1994 Uncertain 1_28343518_G->T 1 28343518 28343518 G T snp 809.77 0/1 99 47 18 29 0.62 intronic rs17162928 EYA3 AU NM_001282562 exon11 c.42688-146G>T 0.130791 0.2669 Uncertain 1_28369279_G->A 1 28369279 28369279 G A snp 2789.77 1/1 99 88 0 88 1.0 intronic rs2476547 EYA3 AU NM_001282561 exon14 c.68185+118G>A 0.654952 0.7391 Uncertain 1_28374837_A->- 1 28374837 28374837 A - indel 161.73 0/1 71 12 4 8 0.67 intronic rs199586294 EYA3 AU NM_001282562 exon15 c.73917-56delA Uncertain 1_28422419_A->G 1 28422419 28422419 A G snp 2300.77 0/1 99 216 111 105 0.49 intergenic rs767838699 EYA3 AU 2.484e-05 0.0003 Uncertain 1_28422847_C->T 1 28422847 28422847 C T snp 783.77 0/1 99 82 50 32 0.39 intergenic rs2989472 EYA3 AU 0.717053 0.8611 0.6510 0.8520 Uncertain 1_28834752_T->G 1 28834752 28834752 T G snp 176.77 0/1 99 18 9 9 0.5 ncRNA_intronic SNHG3 AU Uncertain 1_29019724_G->A 1 29019724 29019724 G A snp 717.77 1/1 54 19 0 19 1.0 intronic rs4654365 GMEB1 AU NM_024482 exon5 c.9433+167G>A 0.483227 0.7748 Uncertain 1_29037253_A->T 1 29037253 29037253 A T snp 34.79 0/1 23 3 1 2 0.67 intronic rs199899562 GMEB1 AU NM_024482 exon9 c.27030+99A>T Uncertain 1_29063559_A->C 1 29063559 29063559 A C snp 1616.77 1/1 99 59 0 59 1.0 UTR5 rs6697540 YTHDF2 AU 0.961262 1 Uncertain 1_29065039_T->C 1 29065039 29065039 T C snp 169.9 1/1 15 5 0 5 1.0 intronic rs6704457 YTHDF2 AU NM_016258 exon3 c.1218+189T>C 0.86901 0.8611 Uncertain 1_29069631_C->T 1 29069631 29069631 C T snp 522.77 0/1 99 64 40 24 0.38 exonic rs202121136 YTHDF2 AU synonymous SNV NM_016258 exon4 c.C849T p.P283P 0.000199681 0.001 0.0002 0.0022 Uncertain 1_29070609_-->G 1 29070609 29070609 - G indel 189.87 1/1 15 8 0 8 1.0 intronic rs3835537 YTHDF2 AU NM_001172828 exon3 c.1566+111insG Uncertain 1_29138975_G->T 1 29138975 29138975 G T snp 2906.77 1/1 99 101 0 101 1.0 exonic rs1042114 OPRD1 AU nonsynonymous SNV NM_000911 exon1 c.G80T p.C27F 0.944489 1 0.915790 0.9198 1 0.73 T 0.0 P -0.951 T 0.0 T 0.0 T ID=CM092036;DIS=Opioid dependence, association with;TAG=DFP;PUB=17622222 DFP Pathogenic 1_29185313_C->T 1 29185313 29185313 C T snp 306.77 0/1 99 13 4 9 0.69 intronic rs112411290 OPRD1 AU NM_000911 exon2 c.46570-152C>T 0.183107 0.4296 Uncertain 1_29189483_C->T 1 29189483 29189483 C T snp 1681.77 0/1 99 125 58 67 0.54 exonic rs118175398 OPRD1 AU synonymous SNV NM_000911 exon3 c.C807T p.A269A 0.0207668 0.0992 0.000308 0.0062 0.0719 Uncertain 1_29189597_C->T 1 29189597 29189597 C T snp 7374.77 1/1 99 250 0 250 1.0 exonic rs2234918 OPRD1 AU synonymous SNV NM_000911 exon3 c.C921T p.G307G 0.58127 0.754 0.471009 0.5918 0.7615 Uncertain 1_29345009_-->TT 1 29345009 29345009 - TT indel 1236.73 1/1 69 24 0 24 1.0 intronic rs5773229 EPB41 AU NM_004437 exon8 c.24954+55insTT 0.927716 0.9256 Uncertain 1_29345027_T->G 1 29345027 29345027 T G snp 432.77 1/1 33 12 0 12 1.0 intronic rs2985334 EPB41 AU NM_004437 exon8 c.24954+73T>G 0.851637 0.9256 Uncertain 1_29379992_G->A 1 29379992 29379992 G A snp 758.77 0/1 99 45 20 25 0.56 intronic rs2788888 EPB41 AU NM_004437 exon13 c.59824+168G>A 0.420527 0.4921 Uncertain 1_29385486_G->C 1 29385486 29385486 G C snp 832.77 0/1 99 56 26 30 0.54 intronic rs2153165 EPB41 AU NM_001166005 exon14 c.71415+122G>C 0.420327 0.4921 Uncertain 1_29391396_A->G 1 29391396 29391396 A G snp 147.78 0/1 24 7 1 6 0.86 intronic rs12070152 EPB41 AU NM_004437 exon15 c.71493-97A>G 0.420128 0.4921 Uncertain 1_29439016_T->A 1 29439016 29439016 T A snp 917.77 0/1 99 96 56 40 0.42 intronic rs4654390 EPB41 AU NM_004437 exon17 c.118960+56T>A 0.402556 0.4325 0.393561 Uncertain 1_29475341_C->T 1 29475341 29475341 C T snp 448.77 0/1 99 40 24 16 0.4 exonic rs2230678 SRSF4 AU nonsynonymous SNV NM_005626 exon6 c.G1066A p.G356S 0.495008 0.1528 0.734154 0.6603 0.1629 0.65 T 1.000 P -1.052 T 0.008 T 0.003 T Pathogenic 1_29475394_C->G 1 29475394 29475394 C G snp 769.77 0/1 99 56 29 27 0.48 exonic rs2230677 SRSF4 AU nonsynonymous SNV NM_005626 exon6 c.G1013C p.G338A 0.495208 0.1528 0.733964 0.6586 0.1594 1 T 0.000 P -0.969 T 0.0 T 0.0 T Pathogenic 1_29475648_T->G 1 29475648 29475648 T G snp 1042.77 0/1 99 87 49 38 0.44 exonic rs2230679 SRSF4 AU nonsynonymous SNV NM_005626 exon6 c.A759C p.E253D 0.720248 0.5635 0.849300 0.8179 0.5665 0.87 T 0.000 P -0.959 T 0.0 T 0.0 T Pathogenic 1_29529699_T->C 1 29529699 29529699 T C snp 2137.77 0/1 99 247 151 96 0.39 exonic rs1062924 MECR AU synonymous SNV NM_001024732 exon5 c.A369G p.A123A 0.746805 0.5615 0.876327 0.8089 0.5825 Uncertain 1_29529943_C->T 1 29529943 29529943 C T snp 108.77 0/1 99 9 5 4 0.44 intronic rs12032476 MECR AU NM_016011 exon6 c.9212+198C>T 0.236222 0.0754 Uncertain 1_29542435_C->G 1 29542435 29542435 C G snp 310.77 0/1 99 25 11 14 0.56 intronic rs2640469 MECR AU NM_016011 exon8 c.21983-81C>G 0.889776 0.8254 Uncertain 1_29542637_A->G 1 29542637 29542637 A G snp 754.77 0/1 99 81 46 35 0.43 exonic rs1128400 MECR AU nonsynonymous SNV NM_001024732 exon3 c.T58C p.F20L 0.718051 0.5625 0.848839 0.8168 0.5670 0.65 T 0.000 P -1.017 T 0.0 T 0.0 T Pathogenic 1_29557224_C->T 1 29557224 29557224 C T snp 1457.77 0/1 99 149 87 62 0.42 intronic rs2640466 MECR AU NM_016011 exon10 c.36709-18C>T 0.700479 0.5625 0.827673 0.7924 0.5962 Uncertain 1_29563059_C->T 1 29563059 29563059 C T snp 83.77 0/1 72 6 3 3 0.5 UTR5 rs75011501 PTPRU AU 0.223043 0.0744 Uncertain 1_29602320_G->A 1 29602320 29602320 G A snp 550.77 0/1 99 58 35 23 0.4 intronic rs76920782 PTPRU AU NM_005704 exon8 c.39112+52G>A 0.310104 0.6756 0.119499 0.2002 0.6573 Uncertain 1_29609503_G->- 1 29609503 29609503 G - indel 1729.73 1/1 99 59 0 59 1.0 intronic rs111595207 PTPRU AU NM_005704 exon12 c.46305+42delG 0.460463 0.6488 0.288017 0.2998 0.6556 Uncertain 1_29609536_G->A 1 29609536 29609536 G A snp 951.77 1/1 72 27 0 27 1.0 intronic rs72884571 PTPRU AU NM_005704 exon12 c.46305+75G>A 0.328275 0.6448 Uncertain 1_29611123_C->T 1 29611123 29611123 C T snp 1004.77 1/1 75 29 0 29 1.0 intronic rs2281378 PTPRU AU NM_005704 exon14 c.48086-119C>T 0.417532 0.6448 Uncertain 1_29630455_C->T 1 29630455 29630455 C T snp 1446.77 1/1 99 54 0 54 1.0 exonic rs2295061 PTPRU AU synonymous SNV NM_001195001 exon16 c.C2565T p.Y855Y 0.3752 0.6419 0.201907 0.2631 0.6492 Uncertain 1_29631050_G->A 1 29631050 29631050 G A snp 371.77 1/1 30 10 0 10 1.0 intronic rs7524056 PTPRU AU NM_005704 exon18 c.68129-235G>A 0.715056 0.8075 Uncertain 1_29631236_-->TA 1 29631236 29631236 - TA indel 12879.7 1/1 99 248 0 248 1.0 intronic rs10641752 PTPRU AU NM_005704 exon18 c.68129-49insTA 0.634784 0.8313 0.492572 0.5107 0.8135 Uncertain 1_29631909_A->G 1 29631909 29631909 A G snp 4388.77 1/1 99 165 0 165 1.0 exonic rs2235937 PTPRU AU nonsynonymous SNV NM_001195001 exon18 c.A2789G p.N930S 0.336462 0.4851 0.230278 0.2945 0.4782 0.096 P -0.902 T 0.0 T 0.001 T Pathogenic 1_29633491_-->CAGCC 1 29633491 29633491 - CAGCC indel 783.73 1/1 33 11 0 11 1.0 intronic rs3835409 PTPRU AU NM_133177 exon19 c.70484-149insCAGCC 0.409545 0.7093 Uncertain 1_29637136_T->C 1 29637136 29637136 T C snp 797.77 1/1 60 20 0 20 1.0 intronic rs2235939 PTPRU AU NM_005704 exon20 c.74099-119T>C 0.567692 0.6696 Uncertain 1_29642318_G->T 1 29642318 29642318 G T snp 60.77 0/1 89 9 6 3 0.33 intronic rs2179795 PTPRU AU NM_005704 exon25 c.79357-195G>T 0.314497 0.5129 Uncertain 1_29644271_G->T 1 29644271 29644271 G T snp 523.77 0/1 99 69 47 22 0.32 exonic rs2235941 PTPRU AU synonymous SNV NM_001195001 exon25 c.G3516T p.S1172S 0.00419329 0.0198 0.000231 0.0019 0.0170 Uncertain 1_29649874_T->C 1 29649874 29649874 T C snp 1237.77 0/1 99 94 45 49 0.52 intronic rs10915252 PTPRU AU NM_005704 exon28 c.86726-8T>C 0.451278 0.5605 0.364329 0.4294 0.5669 Uncertain 1_29652068_T->C 1 29652068 29652068 T C snp 1840.77 0/1 99 154 74 80 0.52 intronic rs2076618 PTPRU AU NM_005704 exon31 c.88954-42T>C 0.46845 0.5615 0.386360 0.4151 0.5633 Uncertain 1_29691759_T->G 1 29691759 29691759 T G snp 68.77 0/1 97 12 8 4 0.33 intergenic rs553942768 LOC101928460 AU 0.000599042 0.003 Uncertain 1_29842261_A->T 1 29842261 29842261 A T snp 139.03 1/1 12 4 0 4 1.0 intergenic rs10915168 LOC101928460 AU 1 1 Uncertain 1_31186254_A->G 1 31186254 31186254 A G snp 335.77 0/1 99 19 8 11 0.58 UTR3 rs1188405 MATN1 AU 0.593251 0.5992 Uncertain 1_31188089_C->T 1 31188089 31188089 C T snp 805.77 0/1 99 106 69 37 0.35 exonic rs1065755 MATN1 AU synonymous SNV NM_002379 exon6 c.G1275A p.E425E 0.28754 0.1835 0.323235 0.3253 0.1700 Uncertain 1_31188316_A->C 1 31188316 31188316 A C snp 46.77 0/1 33 3 1 2 0.67 intronic rs34804437 MATN1 AU NM_002379 exon3 c.1728+160A>C 0.296526 0.1835 Uncertain 1_31188901_A->G 1 31188901 31188901 A G snp 1820.77 0/1 99 208 124 84 0.4 exonic rs20566 MATN1 AU synonymous SNV NM_002379 exon5 c.T1062C p.T354T 0.604233 0.6052 0.561510 0.5111 0.5979 Uncertain 1_31191516_G->C 1 31191516 31191516 G C snp 241.77 0/1 99 20 10 10 0.5 intronic rs10914186 MATN1 AU NM_002379 exon6 c.5153-65G>C 0.289537 0.1825 Uncertain 1_31192128_C->T 1 31192128 31192128 C T snp 191.77 0/1 99 22 15 7 0.32 ncRNA_exonic rs3790493 MATN1-AS1 AU 0.14397 0.1032 Uncertain 1_31196255_G->A 1 31196255 31196255 G A snp 310.77 0/1 99 27 10 17 0.63 ncRNA_intronic rs45601237 MATN1-AS1 AU 0.221446 0.1726 0.223766 0.3414 0.1975 Uncertain 1_31196464_C->T 1 31196464 31196464 C T snp 444.77 0/1 99 42 18 24 0.57 ncRNA_intronic rs74975149 MATN1-AS1 AU 0.105831 0.1032 Uncertain 1_31207902_C->T 1 31207902 31207902 C T snp 542.77 0/1 99 45 22 23 0.51 intronic rs1535637 LAPTM5 AU NM_006762 exon2 c.1345-117C>T 0.0786741 0.2054 Uncertain 1_31210667_G->A 1 31210667 31210667 G A snp 269.77 0/1 99 18 8 10 0.56 intronic rs1188355 LAPTM5 AU NM_006762 exon3 c.3872+121G>A 0.170927 0.0833 Uncertain 1_31215364_T->C 1 31215364 31215364 T C snp 3024.77 0/1 99 250 132 118 0.47 exonic rs1050663 LAPTM5 AU synonymous SNV NM_006762 exon2 c.A120G p.S40S 0.604633 0.6716 0.523143 0.5520 0.6951 Uncertain 1_31230668_C->T 1 31230668 31230668 C T snp 456.77 0/1 99 41 21 20 0.49 UTR5 rs2273979 LAPTM5 AU 0.259185 0.2569 Uncertain 1_31346199_G->A 1 31346199 31346199 G A snp 1497.77 0/1 99 117 52 65 0.56 exonic rs1539360 SDC3 AR,AD,AO synonymous SNV NM_014654 exon5 c.C1188T p.G396G 0.0593051 0.0754 0.083654 0.0905 0.0782 Uncertain 1_31351513_G->A 1 31351513 31351513 G A snp 1465.77 0/1 99 140 79 61 0.44 exonic rs1891419 SDC3 AR,AD,AO synonymous SNV NM_014654 exon2 c.C213T p.P71P 0.177915 0.1111 0.212364 0.2595 0.1210 Uncertain 1_31422799_C->T 1 31422799 31422799 C T snp 88.28 1/1 9 3 0 3 1.0 intronic rs2275740 PUM1 AU NM_001020658 exon6 c.16916-174C>T 0.287939 0.5218 Uncertain 1_31426474_ATTT->- 1 31426474 31426477 ATTT - indel 1210.73 0/1 99 35 15 20 0.57 intronic PUM1 AU NM_014676 exon8 c.20503-86_20503-83delATTT Uncertain 1_31440921_G->A 1 31440921 31440921 G A snp 390.77 1/1 30 11 0 11 1.0 intronic rs4317854 PUM1 AU NM_014676 exon12 c.35143-279G>A 0.83127 0.869 Uncertain 1_31445932_C->G 1 31445932 31445932 C G snp 664.77 1/1 48 28 0 28 1.0 intronic rs2491135 PUM1 AU NM_014676 exon13 c.41440-1565C>G 0.767572 0.8671 0.5551 0.8095 Uncertain 1_31478639_AGAGAGAGAG->- 1 31478639 31478648 AGAGAGAGAG - indel 4518.73 1/1 99 42 0 42 1.0 intronic rs66522510 PUM1 AU NM_014676 exon18 c.72642-60_72642-51delAGAGAGAGAG Uncertain 1_31712314_C->T 1 31712314 31712314 C T snp 397.77 0/1 99 43 20 23 0.53 intronic rs12025507 NKAIN1 AU NM_024522 exon7 c.57791-26C>T 0.275559 0.4474 0.3787 0.5 Uncertain 1_31732390_G->A 1 31732390 31732390 G A snp 205.84 1/1 18 6 0 6 1.0 downstream rs6425725 SNRNP40 AU 0.98742 1 Uncertain 1_31733721_-->AAG 1 31733721 31733721 - AAG indel 224.73 0/1 38 9 2 7 0.78 intronic rs140443791 SNRNP40 AU NM_004814 exon2 c.1457-654insAAG 0.601837 0.3532 Uncertain 1_31733782_T->A 1 31733782 31733782 T A snp 312.77 0/1 99 30 13 17 0.57 intronic rs10914338 SNRNP40 AU NM_004814 exon2 c.1457-593T>A 0.411342 0.1756 0.5009 0.2237 Uncertain 1_31733926_A->G 1 31733926 31733926 A G snp 108.77 0/1 99 19 12 7 0.37 intronic rs12121460 SNRNP40 AU NM_004814 exon2 c.1457-449A>G 0.698482 0.5546 0.6794 0.5303 Uncertain 1_31740668_C->T 1 31740668 31740668 C T snp 2188.77 0/1 99 145 51 94 0.65 intronic rs3753374 SNRNP40 AU NM_004814 exon3 c.7799-49C>T 0.302716 0.1756 0.468784 0.5011 0.1753 Uncertain 1_31740706_A->G 1 31740706 31740706 A G snp 1670.77 0/1 99 199 123 76 0.38 intronic rs3753373 SNRNP40 AU NM_004814 exon3 c.7799-11A>G 0.27496 0.4454 0.174304 0.2519 0.4798 Uncertain 1_31744168_G->A 1 31744168 31744168 G A snp 43.77 0/1 72 5 3 2 0.4 intronic rs3737755 SNRNP40 AU NM_004814 exon5 c.11307-57G>A 0.303115 0.1766 Uncertain 1_31754511_G->C 1 31754511 31754511 G C snp 545.77 0/1 99 37 18 19 0.51 intronic rs4949374 SNRNP40 AU NM_004814 exon6 c.21425+168G>C 0.447085 0.3462 Uncertain 1_31761936_T->A 1 31761936 31761936 T A snp 126.03 1/1 12 4 0 4 1.0 intronic rs7521463 SNRNP40 AU NM_004814 exon7 c.29182-164T>A 0.446685 0.3442 Uncertain 1_31761989_G->A 1 31761989 31761989 G A snp 1161.77 1/1 84 37 0 37 1.0 intronic rs1532859 SNRNP40 AU NM_004814 exon7 c.29182-111G>A 0.985823 1 Uncertain 1_31762374_C->T 1 31762374 31762374 C T snp 101.77 0/1 99 14 10 4 0.29 intronic rs1532858 SNRNP40 AU NM_004814 exon7 c.29348+108C>T 0.704273 0.5536 Uncertain 1_31764693_G->A 1 31764693 31764693 G A snp 449.77 0/1 99 22 7 15 0.68 intronic rs12135540 SNRNP40 AU NM_004814 exon8 c.31841-66G>A 0.302915 0.1756 Uncertain 1_31764713_-->AAG 1 31764713 31764713 - AAG indel 1010.73 0/1 99 35 15 20 0.57 intronic rs142762586 SNRNP40 AU NM_004814 exon8 c.31841-46insAAG 0.447085 0.3462 0.573231 0.5400 0.3229 Uncertain 1_31764930_T->C 1 31764930 31764930 T C snp 1149.77 1/1 84 38 0 38 1.0 intronic rs10733007 SNRNP40 AU NM_004814 exon8 c.31935+77T>C 0.979233 1 Uncertain 1_31792141_A->G 1 31792141 31792141 A G snp 545.77 0/1 75 23 4 19 0.83 intronic rs4949384 ZCCHC17 AU NM_001282569 exon4 c.972+128A>G 0.301318 0.1835 Uncertain 1_31840426_C->G 1 31840426 31840426 C G snp 405.77 0/1 99 31 16 15 0.48 intronic rs2271072 FABP3 AU NM_004102 exon2 c.1609+85C>G 0.409944 0.1825 Uncertain 1_31882582_-->GCCTCA 1 31882582 31882582 - GCCTCA indel 1906.73 0/1 99 57 33 24 0.42 intergenic FABP3 AU 0.59345 0.7996 Uncertain 1_31883295_T->C 1 31883295 31883295 T C snp 257.77 0/1 99 30 16 14 0.47 intergenic FABP3 AU 0.59345 0.7996 0.5414 0.8049 Uncertain 1_31886163_C->T 1 31886163 31886163 C T snp 960.77 0/1 99 87 44 43 0.49 intronic SERINC2 AU NM_178865 exon1 c.39+12C>T 0.284744 0.4008 0.4474 0.4432 Uncertain 1_31886750_-->TCCC 1 31886750 31886750 - TCCC indel 1015.73 0/1 99 50 32 18 0.36 intronic rs142597528 SERINC2 AU NM_178865 exon1 c.39+599insTCCC 0.239417 0.371 Uncertain 1_31886833_T->C 1 31886833 31886833 T C snp 1091.77 0/1 99 108 59 49 0.45 intronic SERINC2 AU NM_018565 exon1 c.51-78T>C 0.592652 0.7996 0.5653 0.7879 Uncertain 1_31897493_A->G 1 31897493 31897493 A G snp 1423.77 1/1 99 39 0 39 1.0 intronic SERINC2 AU NM_178865 exon3 c.11417-36A>G 0.909145 1 0.922631 0.9708 1 Uncertain 1_31898132_T->C 1 31898132 31898132 T C snp 2675.77 0/1 99 250 144 106 0.42 intronic SERINC2 AU NM_178865 exon4 c.12064-44T>C 0.316494 0.1994 0.450484 0.4744 0.1983 Uncertain 1_31898162_C->T 1 31898162 31898162 C T snp 2866.77 0/1 99 248 135 113 0.46 intronic SERINC2 AU NM_178865 exon4 c.12064-14C>T 0.316693 0.1994 0.453099 0.4748 0.1986 Uncertain 1_31898234_T->C 1 31898234 31898234 T C snp 2525.77 0/1 99 243 133 110 0.45 exonic SERINC2 AU synonymous SNV NM_178865 exon4 c.T450C p.I150I 0.35004 0.3591 0.453637 0.4862 0.3402 Uncertain 1_31898279_A->C 1 31898279 31898279 A C snp 1926.77 0/1 99 162 79 83 0.51 intronic rs4949403 SERINC2 AU NM_178865 exon4 c.12144+23A>C 0.316693 0.1994 0.452868 0.4752 0.1975 Uncertain 1_31898687_C->T 1 31898687 31898687 C T snp 876.77 0/1 99 75 41 34 0.45 exonic rs2275434 SERINC2 AU synonymous SNV NM_178865 exon5 c.C537T p.I179I 0.0607029 0.0863 0.027833 0.0607 0.0916 Uncertain 1_31899684_A->T 1 31899684 31899684 A T snp 1671.77 1/1 99 58 0 58 1.0 intronic SERINC2 AU NM_178865 exon6 c.13558+14A>T 0.91254 1 0.921882 0.9765 1 Uncertain 1_31899704_C->T 1 31899704 31899704 C T snp 1057.77 1/1 78 32 0 32 1.0 intronic SERINC2 AU NM_178865 exon6 c.13558+34C>T 0.739018 0.8353 0.737044 0.8601 0.8571 Uncertain 1_31902418_A->G 1 31902418 31902418 A G snp 1365.77 0/1 99 108 56 52 0.48 intronic SERINC2 AU NM_178865 exon8 c.16273+33A>G 0.430511 0.4058 0.404506 0.3987 0.4524 Uncertain 1_31905730_T->C 1 31905730 31905730 T C snp 32.77 0/1 61 5 3 2 0.4 intronic SERINC2 AU NM_178865 exon9 c.19701-83T>C 0.739018 0.5308 Uncertain 1_31905767_G->C 1 31905767 31905767 G C snp 261.77 0/1 99 17 9 8 0.47 intronic SERINC2 AU NM_178865 exon9 c.19701-46G>C 0.113618 0.2619 0.015159 0.0883 0.2692 Uncertain 1_31905889_-->CAG 1 31905889 31905889 - CAG indel 3482.73 0/1 99 165 82 83 0.5 exonic rs5773362 SERINC2 AU nonframeshift insertion NM_178865 exon9 c.1089_1090insCAG p.T363delinsTQ 0.739018 0.63 0.824361 0.7309 0.5890 ID=COSM1317544;OCCURENCE=1(haematopoietic_and_lymphoid_tissue),1(ovary),4(large_intestine) Uncertain 1_31906882_A->G 1 31906882 31906882 A G snp 3075.77 1/1 99 107 0 107 1.0 intronic SERINC2 AU NM_178865 exon10 c.20798-28A>G 0.851438 0.7331 0.954790 0.9128 0.7546 Uncertain 1_31907102_A->G 1 31907102 31907102 A G snp 958.77 1/1 72 32 0 32 1.0 UTR3 SERINC2 AU 0.655551 0.5734 ID=CR139520;DIS=Alcohol dependence, association with;TAG=DP;PUB=23778322 DP Uncertain 1_31971702_C->- 1 31971702 31971702 C - indel 1194.73 1/1 99 33 0 33 1.0 upstream rs201612393 LINC01225 AU 0.276358 0.3601 Uncertain 1_31971707_G->A 1 31971707 31971707 G A snp 1329.77 1/1 99 37 0 37 1.0 upstream rs35567548 LINC01225 AU 0.257588 0.3601 Uncertain 1_31972099_T->C 1 31972099 31972099 T C snp 54.74 1/1 6 2 0 2 1.0 ncRNA_intronic rs1320587 LINC01225 AU 0.996406 1 Uncertain 1_32044568_C->T 1 32044568 32044568 C T snp 54.74 1/1 6 2 0 2 1.0 intronic rs12750545 TINAGL1 AU NM_022164 exon3 c.2055-236C>T 1 1 Uncertain 1_32044589_T->C 1 32044589 32044589 T C snp 140.03 1/1 12 4 0 4 1.0 intronic rs12736080 TINAGL1 AU NM_022164 exon3 c.2055-215T>C Uncertain 1_32044595_C->G 1 32044595 32044595 C G snp 134.03 1/1 12 4 0 4 1.0 intronic rs12750558 TINAGL1 AU NM_022164 exon3 c.2055-209C>G 1 1 Uncertain 1_32044607_G->C 1 32044607 32044607 G C snp 180.9 1/1 15 8 1 7 0.88 intronic rs28402919 TINAGL1 AU NM_022164 exon3 c.2055-197G>C 0.884585 0.9444 Uncertain 1_32044609_G->A 1 32044609 32044609 G A snp 180.9 1/1 15 8 0 8 1.0 intronic rs28520749 TINAGL1 AU NM_022164 exon3 c.2055-195G>A 0.768171 0.8631 Uncertain 1_32044641_G->A 1 32044641 32044641 G A snp 432.77 1/1 33 19 0 19 1.0 intronic rs12753402 TINAGL1 AU NM_022164 exon3 c.2055-163G>A Uncertain 1_32045777_TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTG->- 1 32045777 32045814 TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTG - indel 697.87 1/1 15 5 0 5 1.0 intronic TINAGL1 AU NM_022164 exon3 c.2119+909_2119+946delTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTG Uncertain 1_32119348_AC->- 1 32119348 32119349 AC - indel 610.73 0/1 99 45 16 29 0.64 intronic rs376725697 COL16A1 AU NM_001856 exon2 c.1026+71_1026+72delAC Uncertain 1_32127911_C->T 1 32127911 32127911 C T snp 4639.77 1/1 99 185 0 185 1.0 intronic rs2271927 COL16A1 AU NM_001856 exon14 c.9683-23C>T 0.472444 0.6389 0.424463 0.4579 0.6614 Uncertain 1_32127953_G->A 1 32127953 32127953 G A snp 4077.77 1/1 99 158 0 158 1.0 exonic rs2271928 COL16A1 AU synonymous SNV NM_001856 exon58 c.C3663T p.D1221D 0.471845 0.6369 0.424505 0.4388 0.6451 Uncertain 1_32128283_C->G 1 32128283 32128283 C G snp 460.77 1/1 39 21 7 14 0.67 intronic rs1568396 COL16A1 AU NM_001856 exon15 c.10008+24C>G 0.509784 0.6825 0.593329 0.4873 0.7418 Uncertain 1_32133118_C->T 1 32133118 32133118 C T snp 155.77 0/1 99 24 17 7 0.29 intronic COL16A1 AU NM_001856 exon20 c.14924-57C>T Uncertain 1_32133737_C->T 1 32133737 32133737 C T snp 1463.77 1/1 99 58 0 58 1.0 intronic rs2292988 COL16A1 AU NM_001856 exon21 c.15514-28C>T 0.317093 0.5883 0.279160 0.3432 0.6111 Uncertain 1_32136168_G->T 1 32136168 32136168 G T snp 2152.77 1/1 99 89 1 88 0.99 intronic rs2292990 COL16A1 AU NM_001856 exon23 c.17951-34G>T 0.340455 0.5962 0.3397 0.5827 Uncertain 1_32145009_C->T 1 32145009 32145009 C T snp 2305.77 1/1 99 77 0 77 1.0 intronic rs4949461 COL16A1 AU NM_001856 exon30 c.26981-223C>T 0.963259 1 0.9897 1 Uncertain 1_32148571_A->G 1 32148571 32148571 A G snp 3096.77 1/1 99 112 0 112 1.0 exonic rs10737358 COL16A1 AU synonymous SNV NM_001856 exon37 c.T2502C p.P834P 0.999401 1 0.999260 0.9998 1 Uncertain 1_32156869_A->T 1 32156869 32156869 A T snp 6764.77 1/1 99 250 2 248 0.99 intronic rs10798884 COL16A1 AU NM_001856 exon52 c.38576+42A>T 0.999201 1 0.999097 0.9997 1 Uncertain 1_32167526_G->C 1 32167526 32167526 G C snp 546.77 1/1 42 18 0 18 1.0 intronic rs1815465 COL16A1 AU NM_001856 exon70 c.49470-195G>C 0.999201 1 Uncertain 1_32205180_T->A 1 32205180 32205180 T A snp 1901.77 0/1 99 143 65 78 0.55 exonic rs148929083 ADGRB2 AU nonsynonymous SNV NM_001294335 exon15 c.A2224T p.M742L 0.00519169 0.0248 0.000077 0.0031 0.0359 0.19 T 0.978 D -1.101 T 0.565 P 0.499 P Pathogenic 1_32266026_A->G 1 32266026 32266026 A G snp 1710.77 0/1 99 166 91 75 0.45 intronic rs552124 SPOCD1 AU NM_001281988 exon13 c.9838-15A>G 0.736422 0.5585 0.761044 0.7776 0.6208 Uncertain 1_32279629_G->A 1 32279629 32279629 G A snp 753.77 0/1 99 80 44 36 0.45 exonic rs6669563 SPOCD1 AU nonsynonymous SNV NM_001281987 exon2 c.C1306T p.R436W 0.346246 0.4226 0.365600 0.4068 0.4407 0 D 0.0 P -0.929 T 0.825 T 0.237 P Pathogenic 1_32280610_T->C 1 32280610 32280610 T C snp 5177.77 1/1 99 191 0 191 1.0 exonic rs6664445 SPOCD1 AU nonsynonymous SNV NM_001281987 exon2 c.A325G p.T109A 0.6875 0.7212 0.671767 0.6822 0.7016 1 T 0.0 P -0.938 T 0.0 T 0.0 T Pathogenic 1_32496069_T->C 1 32496069 32496069 T C snp 934.77 0/1 99 90 47 43 0.48 intronic rs750452800 KHDRBS1 AU NM_006559 exon2 c.16427+46T>C 1.761e-05 0 Uncertain 1_32502430_T->A 1 32502430 32502430 T A snp 174.77 0/1 99 24 16 8 0.33 intronic rs3738002 KHDRBS1 AU NM_006559 exon5 c.22914-80T>A 0.167732 0.2371 Uncertain 1_32538782_G->A 1 32538782 32538782 G A snp 324.77 0/1 99 25 13 12 0.48 intronic rs2296450 TMEM39B AU NM_018056 exon1 c.4+130G>A 0.0866613 0.128 Uncertain 1_32542507_C->A 1 32542507 32542507 C A snp 168.77 0/1 99 18 12 6 0.33 intronic rs4317856 TMEM39B AU NM_018056 exon4 c.3799+60C>A 0.155551 0.2341 0.064827 Uncertain 1_32557486_A->G 1 32557486 32557486 A G snp 2255.77 0/1 99 185 93 92 0.5 exonic rs744455 TMEM39B AU synonymous SNV NM_018056 exon6 c.A801G p.S267S 0.223642 0.2351 0.134092 0.1241 0.2426 0 D 1.0 P -1.012 T Likely benign 1_32557673_C->T 1 32557673 32557673 C T snp 875.77 0/1 99 81 43 38 0.47 intronic rs744454 TMEM39B AU NM_018056 exon6 c.18964+61C>T 0.145367 0.2351 Uncertain 1_32623108_A->G 1 32623108 32623108 A G snp 1532.77 0/1 99 144 82 62 0.43 intronic rs41311207 KPNA6 AU NM_012316 exon4 c.49315+62A>G 0.163538 0.2321 Uncertain 1_32625250_G->C 1 32625250 32625250 G C snp 37.77 0/1 66 6 4 2 0.33 intronic rs41308244 KPNA6 AU NM_012316 exon6 c.51401+118G>C 0.152756 0.2321 Uncertain 1_32631637_C->A 1 32631637 32631637 C A snp 221.77 0/1 99 21 9 12 0.57 intronic rs72666768 KPNA6 AU NM_012316 exon11 c.57974-68C>A 0.210264 0.2331 Uncertain 1_32646186_C->G 1 32646186 32646186 C G snp 150.77 0/1 99 9 3 6 0.67 intronic rs2273164 TXLNA AU NM_175852 exon2 c.169+71C>G 0.20647 0.2312 Uncertain 1_32655958_TCC->- 1 32655958 32655960 TCC - indel 343.73 0/1 99 19 9 10 0.53 intronic rs10551696 TXLNA AU NM_175852 exon6 c.9904+108_9904+110delTCC 0.22524 0.2312 Uncertain 1_32658062_-->GT 1 32658062 32658062 - GT indel 1668.73 1/1 99 40 0 40 1.0 intronic rs397808632 TXLNA AU NM_175852 exon7 c.12085+31insGT 0.828474 0.9216 0.713099 0.6983 0.9237 Uncertain 1_32658447_G->A 1 32658447 32658447 G A snp 255.77 0/1 99 19 11 8 0.42 intronic rs16834916 TXLNA AU NM_175852 exon8 c.12386+115G>A 0.20647 0.2312 Uncertain 1_32671030_C->T 1 32671030 32671030 C T snp 790.77 0/1 99 68 35 33 0.49 upstream;downstream rs2295116 IQCC;CCDC28B UN 0.177316 0.2302 Uncertain 1_32671065_A->C 1 32671065 32671065 A C snp 388.77 0/1 99 38 22 16 0.42 upstream;downstream rs2295117 IQCC;CCDC28B UN 0.210064 0.2302 Uncertain 1_32671307_A->C 1 32671307 32671307 A C snp 2343.77 0/1 99 200 103 97 0.48 exonic rs200205658 IQCC AU nonsynonymous SNV NM_001160042 exon1 c.A25C p.K9Q 1.052e-05 0 0.07 T 1 N -1.066 T 0.835 T 0.318 P Pathogenic 1_32672784_G->C 1 32672784 32672784 G C snp 1714.77 0/1 99 132 61 71 0.54 intronic rs56663136 IQCC AU NM_001160042 exon5 c.1558-56G>C 0.209265 0.2302 Uncertain 1_32672785_A->T 1 32672785 32672785 A T snp 1687.77 0/1 99 132 61 71 0.54 intronic rs60559680 IQCC AU NM_001160042 exon5 c.1558-55A>T 0.209265 0.2302 Uncertain 1_32672908_T->G 1 32672908 32672908 T G snp 2799.77 0/1 99 218 101 117 0.54 exonic rs3903683 IQCC AU nonsynonymous SNV NM_001160042 exon5 c.T866G p.F289C 0.227436 0.2302 0.141858 0.1264 0.2398 1 T 0.0 P -0.929 T 0.0 T 0.0 T Pathogenic 1_32677212_C->T 1 32677212 32677212 C T snp 83.77 0/1 30 4 1 3 0.75 intronic rs35178513 DCDC2B AU NM_001099434 exon3 c.2667-149C>T 0.177117 0.2302 Uncertain 1_32682962_C->A 1 32682962 32682962 C A snp 1527.77 0/1 99 124 66 58 0.47 intronic rs41311189 TMEM234 AU NM_019118 exon2 c.499+10C>A 0.177915 0.2302 0.085807 0.1113 0.2387 Uncertain 1_32686594_A->G 1 32686594 32686594 A G snp 31.77 0/1 60 9 7 2 0.22 intronic rs3738001 TMEM234 AU NM_019118 exon3 c.4278-137A>G 0.294728 0.2312 Uncertain 1_32687777_A->G 1 32687777 32687777 A G snp 77.77 0/1 96 6 3 3 0.5 intronic rs17523023 TMEM234 AU NM_019118 exon5 c.5454-130A>G 0.208067 0.2302 Uncertain 1_32689521_A->G 1 32689521 32689521 A G snp 606.77 0/1 99 44 16 28 0.64 intronic rs16834931 EIF3I AU NM_003757 exon3 c.1592-113A>G 0.227436 0.2302 Uncertain 1_32689857_A->G 1 32689857 32689857 A G snp 1153.77 1/1 84 38 0 38 1.0 intronic rs589034 EIF3I AU NM_003757 exon3 c.1680+135A>G 0.608227 0.6895 Uncertain 1_32694673_C->T 1 32694673 32694673 C T snp 408.77 0/1 99 35 18 17 0.49 intronic rs182451914 EIF3I AU NM_003757 exon9 c.6693-62C>T 0.000199681 0.001 Uncertain 1_32694819_A->G 1 32694819 32694819 A G snp 1035.77 0/1 99 104 57 47 0.45 intronic rs72666792 EIF3I AU NM_003757 exon9 c.6767+10A>G 0.171126 0.2302 0.076119 0.1089 0.2395 Uncertain 1_32696628_A->C 1 32696628 32696628 A C snp 1661.77 0/1 99 169 95 74 0.44 intronic rs72666795 EIF3I AU NM_003757 exon10 c.8578+8A>C 0.210663 0.2302 0.123712 0.1214 0.2391 Uncertain 1_32713199_A->G 1 32713199 32713199 A G snp 3349.77 1/1 99 121 0 121 1.0 exonic rs2291063 FAM167B AU synonymous SNV NM_032648 exon1 c.A177G p.Q59Q 0.168131 0.255 0.061010 0.0971 0.2802 Uncertain 1_32801510_G->A 1 32801510 32801510 G A snp 107.77 0/1 99 13 8 5 0.38 intronic rs769555255 MARCKSL1 AU NM_023009 exon2 c.1350-37G>A 0.0002 0.0018 Uncertain 1_32860161_T->C 1 32860161 32860161 T C snp 3197.05 1/1 99 93 0 93 1.0 upstream rs547329 BSDC1 AU 0.970248 1 Uncertain 1_33065947_G->C 1 33065947 33065947 G C snp 6111.77 1/1 99 224 0 224 1.0 exonic rs704886 ZBTB8A AU nonsynonymous SNV NM_001040441 exon5 c.G1253C p.G418A 0.9998 1 0.999923 1.0000 1 1 T 1.0 P -0.974 T 0.0 T 0.0 T Pathogenic 1_33099637_A->G 1 33099637 33099637 A G snp 787.77 0/1 99 73 39 34 0.47 exonic rs704878 ZBTB8OS AU synonymous SNV NM_178547 exon3 c.T195C p.F65F 0.213658 0.1319 0.169998 0.1003 0.1650 1.0 P Uncertain 1_33099798_A->G 1 33099798 33099798 A G snp 841.77 1/1 60 31 0 31 1.0 intronic rs704877 ZBTB8OS AU NM_178547 exon5 c.12211+125A>G 0.405751 0.2321 Uncertain 1_33117071_T->G 1 33117071 33117071 T G snp 1743.77 1/1 99 65 0 65 1.0 intronic rs583114 RBBP4 AU NM_001135255 exon1 c.16+148T>G 0.965256 1 Uncertain 1_33117092_C->T 1 33117092 33117092 C T snp 344.77 0/1 99 47 33 14 0.3 intronic rs12407673 RBBP4 AU NM_001135255 exon1 c.16+169C>T 0.0644968 0.1062 Uncertain 1_33117137_C->G 1 33117137 33117137 C G snp 209.77 0/1 99 22 13 9 0.41 intronic rs12407680 RBBP4 AU NM_001135255 exon1 c.16+214C>G 0.0644968 0.1062 Uncertain 1_33127730_T->C 1 33127730 33127730 T C snp 99.28 1/1 9 4 0 4 1.0 intronic rs1085416 RBBP4 AU NM_001135255 exon3 c.6266+4557T>C 0.968251 1 Uncertain 1_33133968_T->C 1 33133968 33133968 T C snp 4773.77 1/1 99 171 0 171 1.0 exonic rs2762904 RBBP4 AU synonymous SNV NM_001135255 exon4 c.T450C p.V150V 0.967851 1 0.969860 0.9913 1 1.0 P -1.004 T Likely benign 1_33134989_A->G 1 33134989 33134989 A G snp 100.77 0/1 99 14 8 6 0.43 intronic rs359956 RBBP4 AU NM_001135255 exon7 c.18051+31A>G 0.78095 0.869 0.830942 0.9019 0.8362 Uncertain 1_33138361_T->- 1 33138361 33138361 T - indel 811.73 0/1 99 151 82 69 0.46 intronic rs376876157 RBBP4 AU NM_001135255 exon11 c.21484-30delT 0.13738 0.1052 Uncertain 1_33138363_T->A 1 33138363 33138363 T A snp 1081.77 0/1 99 126 82 44 0.35 intronic rs543138675 RBBP4 AU NM_001135255 exon11 c.21484-28T>A 0.13738 0.1052 9.452e-06 0 Uncertain 1_33138364_C->A 1 33138364 33138364 C A snp 1080.77 0/1 99 126 82 44 0.35 intronic rs561212517 RBBP4 AU NM_001135255 exon11 c.21484-27C>A 0.13738 0.1052 8.269e-06 0 Uncertain 1_33138366_C->A 1 33138366 33138366 C A snp 1025.77 0/1 99 125 81 44 0.35 intronic rs367873300 RBBP4 AU NM_001135255 exon11 c.21484-25C>A 0.13738 0.1052 0.003767 0.0700 0.1165 Uncertain 1_33138516_A->C 1 33138516 33138516 A C snp 96.28 1/1 9 3 0 3 1.0 intronic rs607202 RBBP4 AU NM_001135255 exon11 c.21595+14A>C 0.968051 1 0.970168 0.9915 1 Uncertain 1_33149699_AG->- 1 33149699 33149700 AG - indel 2905.73 0/1 99 180 89 91 0.51 UTR3 rs34250196 RBBP4 AU 0.146166 0.1062 0.0732 0.1187 Uncertain 1_33160644_T->G 1 33160644 33160644 T G snp 1048.77 0/1 99 73 31 42 0.58 exonic rs3795424 SYNC AU nonsynonymous SNV NM_001161708 exon2 c.A1055C p.E352A 0.0642971 0.1062 0.026988 0.0497 0.1193 0.02 T 0.839 P -0.650 T 1.0 D 0.997 D Pathogenic 1_33160878_C->T 1 33160878 33160878 C T snp 2437.77 0/1 99 239 128 111 0.46 exonic rs360042 SYNC AU nonsynonymous SNV NM_001161708 exon2 c.G821A p.R274Q 0.86262 0.8681 0.911958 0.9260 0.8480 0.1 T 0.038 P -0.928 T 0.811 T 0.185 P Pathogenic 1_33161212_T->C 1 33161212 33161212 T C snp 3939.77 0/1 99 249 116 133 0.53 exonic rs360041 SYNC AU nonsynonymous SNV NM_001161708 exon2 c.A487G p.M163V 0.86262 0.8681 0.911520 0.9251 0.8558 0.45 T 0.0 P -1.032 T 0.0 T 0.0 T Pathogenic 1_33161264_C->T 1 33161264 33161264 C T snp 2731.77 0/1 99 250 138 112 0.45 exonic rs74519835 SYNC AU synonymous SNV NM_001161708 exon2 c.G435A p.R145R 0.0642971 0.1062 0.031537 0.0431 0.1013 Uncertain 1_33161612_T->G 1 33161612 33161612 T G snp 1478.77 0/1 99 103 45 58 0.56 exonic rs3806248 SYNC AU synonymous SNV NM_001161708 exon2 c.A87C p.P29P 0.0644968 0.1071 0.030880 0.0446 0.1202 Uncertain 1_33219928_A->G 1 33219928 33219928 A G snp 122.77 0/1 58 6 2 4 0.67 intronic KIAA1522 AU NM_020888 exon1 c.235+12138A>G Uncertain 1_33231283_A->G 1 33231283 33231283 A G snp 931.77 0/1 99 74 35 39 0.53 UTR5 rs150638017 KIAA1522 AU 0.00379393 0.0169 Uncertain 1_33231380_T->G 1 33231380 33231380 T G snp 1364.77 0/1 99 141 78 63 0.45 exonic rs6694085 KIAA1522 AU nonsynonymous SNV NM_001198972 exon1 c.T10G p.F4V 0.141374 0.2262 0.2085 0.2152 0 D 0.023 P -1.057 T 0.419 T 0.118 T Pathogenic 1_33231403_G->T 1 33231403 33231403 G T snp 1203.77 0/1 99 127 72 55 0.43 exonic rs6702519 KIAA1522 AU synonymous SNV NM_001198972 exon1 c.G33T p.A11A 0.141374 0.2262 0.2087 0.2140 Uncertain 1_33233223_C->T 1 33233223 33233223 C T snp 83.77 0/1 69 5 2 3 0.6 intronic rs4951771 KIAA1522 AU NM_001198973 exon2 c.2017-164C>T 0.66853 0.7718 Uncertain 1_33233237_G->A 1 33233237 33233237 G A snp 147.77 0/1 99 9 4 5 0.56 intronic rs360524 KIAA1522 AU NM_001198973 exon2 c.2017-150G>A 0.667332 0.7718 Uncertain 1_33233323_A->G 1 33233323 33233323 A G snp 3097.77 1/1 99 110 0 110 1.0 intronic rs360523 KIAA1522 AU NM_001198973 exon2 c.2017-64A>G 0.982628 1 Uncertain 1_33234110_C->T 1 33234110 33234110 C T snp 43.77 0/1 66 4 2 2 0.5 intronic rs111335810 KIAA1522 AU NM_001198973 exon4 c.2882-142C>T 0.0988419 0.0387 Uncertain 1_33234128_G->A 1 33234128 33234128 G A snp 73.77 0/1 99 12 8 4 0.33 intronic rs3737992 KIAA1522 AU NM_001198973 exon4 c.2882-124G>A 0.141174 0.2252 Uncertain 1_33234136_T->C 1 33234136 33234136 T C snp 426.77 1/1 33 14 0 14 1.0 intronic rs360522 KIAA1522 AU NM_001198973 exon4 c.2882-116T>C 0.978435 1 Uncertain 1_33256884_C->A 1 33256884 33256884 C A snp 1216.77 0/1 99 97 42 55 0.57 intronic rs1765223 YARS AD NM_003680 exon8 c.15274+29C>A 0.291134 0.2272 0.307704 0.3082 0.2100 Uncertain 1_33276424_G->A 1 33276424 33276424 G A snp 4633.77 1/1 99 165 0 165 1.0 intronic rs4951787 YARS AD NM_003680 exon11 c.34786+57G>A 0.984026 1 Uncertain 1_33293748_T->C 1 33293748 33293748 T C snp 908.77 1/1 66 27 0 27 1.0 intronic rs10753266 S100PBP AU NM_001256121 exon4 c.1982+66T>C 0.984026 1 Uncertain 1_33299816_A->T 1 33299816 33299816 A T snp 93.28 1/1 9 4 0 4 1.0 intronic rs4951773 S100PBP AU NM_001256121 exon5 c.3968+4148A>T 0.984026 1 Uncertain 1_33318561_T->C 1 33318561 33318561 T C snp 1675.77 1/1 99 57 0 57 1.0 intronic rs702836 S100PBP AU NM_001256121 exon6 c.26979-118T>C 0.984026 1 Uncertain 1_33318634_G->A 1 33318634 33318634 G A snp 3243.77 1/1 99 120 0 120 1.0 intronic rs785274 S100PBP AU NM_001256121 exon6 c.26979-45G>A 0.984026 1 0.985468 0.9956 1 Uncertain 1_33330432_A->G 1 33330432 33330432 A G snp 1204.77 1/1 87 44 0 44 1.0 intronic rs1284368 FNDC5 AU NM_001171941 exon1 c.188+34A>G 0.984026 1 0.985468 0.9956 1 Uncertain 1_33361228_A->G 1 33361228 33361228 A G snp 1976.77 0/1 99 180 90 90 0.5 exonic rs79980208 TMEM54 AU synonymous SNV NM_033504 exon4 c.T387C p.A129A 0.0159744 0.0764 0.0084 0.1140 Uncertain 1_33409551_C->T 1 33409551 33409551 C T snp 838.77 0/1 99 77 44 33 0.43 intronic rs194644 RNF19B AU NM_001127361 exon4 c.6731-68C>T 0.370008 0.3284 Uncertain 1_33409693_G->A 1 33409693 33409693 G A snp 1736.77 0/1 99 159 81 78 0.49 exonic rs194645 RNF19B AU synonymous SNV NM_001127361 exon6 c.C1329T p.G443G 0.188498 0.2748 0.169153 0.2301 0.2551 Uncertain 1_33430102_T->G 1 33430102 33430102 T G snp 309.78 1/1 24 11 0 11 1.0 exonic rs113840389 RNF19B AU nonsynonymous SNV NM_001127361 exon1 c.A185C p.Q62P 0.29 T 0.0 P -1.012 T 0.0 T 0.0 T Pathogenic 1_33476292_A->G 1 33476292 33476292 A G snp 65.77 0/1 94 12 9 3 0.25 UTR3 rs74066439 AK2 AR 0.4912 0.4931 Uncertain 1_33476353_C->T 1 33476353 33476353 C T snp 36.77 0/1 65 46 40 6 0.13 UTR3 rs66599471 AK2 AR 0.3611 0.3539 Uncertain 1_33485790_ACACACAC->- 1 33485790 33485797 ACACACAC - indel 3418.73 ./1 99 113 0 113 1.0 intronic rs140580245 AK2 AR NM_001625 exon3 c.8186-1177_8186-1170delACACACAC 0.2727 0.2222 Uncertain 1_33485789_-->ACACAC 1 33485789 33485789 - ACACAC indel 3418.73 ./1 99 113 0 113 1.0 intronic rs56098182 AK2 AR NM_001625 exon3 c.8186-1178insACACAC 0.0520 0.0778 Uncertain 1_33497070_G->A 1 33497070 33497070 G A snp 600.77 1/1 45 18 0 18 1.0 intronic rs1012884 AK2 AR NM_001625 exon6 c.23555-5266G>A 0.989816 1 Uncertain 1_33547768_T->C 1 33547768 33547768 T C snp 789.77 0/1 99 67 34 33 0.49 intronic rs1871322 AZIN2 AU 0.315296 0.2768 Uncertain 1_33560338_A->G 1 33560338 33560338 A G snp 3251.77 1/1 99 112 0 112 1.0 intronic rs804428 AZIN2 AU NM_001301823 exon5 c.2658+24A>G 0.988618 1 0.960403 0.9701 0.9999 Uncertain 1_33631069_C->A 1 33631069 33631069 C A snp 623.77 0/1 99 40 15 25 0.63 splicing rs2306257 TRIM62 AU NM_018207 exon4 c.18294-2C>A 0.1877 0.2014 0.187711 0.3338 0.3311 Pathogenic 1_33641932_A->G 1 33641932 33641932 A G snp 3923.77 1/1 99 144 0 144 1.0 intronic rs604941 TRIM62 AU NM_018207 exon5 c.33848-4693A>G 0.983826 1 Uncertain 1_33642152_C->T 1 33642152 33642152 C T snp 423.77 0/1 99 38 20 18 0.47 intronic rs643402 TRIM62 AU NM_018207 exon5 c.33848-4473C>T 0.749201 0.7956 Uncertain 1_33646950_A->G 1 33646950 33646950 A G snp 1763.77 0/1 99 151 75 76 0.5 exonic rs622407 TRIM62 AU synonymous SNV NM_018207 exon1 c.T84C p.H28H 0.749601 0.7946 0.780441 0.7747 0.7854 Uncertain 1_33741787_G->A 1 33741787 33741787 G A snp 2254.77 0/1 99 193 87 106 0.55 intronic rs12743549 ZNF362 AU NM_152493 exon3 c.5589+23G>A 0.166733 0.2143 0.168768 0.2034 0.2186 Uncertain 1_33741895_G->A 1 33741895 33741895 G A snp 2051.77 0/1 99 176 96 80 0.45 intronic rs12743740 ZNF362 AU NM_152493 exon4 c.5773-53G>A 0.166534 0.2143 Uncertain 1_33742228_T->C 1 33742228 33742228 T C snp 212.84 1/1 18 7 0 7 1.0 intronic rs4475712 ZNF362 AU NM_152493 exon4 c.6020+33T>C 0.992212 1 1 . Uncertain 1_33746163_T->C 1 33746163 33746163 T C snp 413.77 1/1 33 12 0 12 1.0 intronic rs10914676 ZNF362 AU NM_152493 exon5 c.9883+105T>C 0.992212 1 Uncertain 1_33760743_T->C 1 33760743 33760743 T C snp 2554.77 0/1 99 188 79 109 0.58 splicing rs4641276 ZNF362 AU NM_152493 exon8 c.24572-4T>C 0.817292 0.7589 0.816854 0.7866 0.7727 Pathogenic 1_33777524_T->C 1 33777524 33777524 T C snp 949.77 0/1 99 61 29 32 0.52 intronic rs6679416 A3GALT2 AU NM_001080438 exon2 c.5286-128T>C 0.72504 0.751 Uncertain 1_33778063_G->A 1 33778063 33778063 G A snp 160.77 0/1 99 13 6 7 0.54 intronic rs60103055 A3GALT2 AU NM_001080438 exon3 c.5735-38G>A 0.0836661 0.1567 0.073059 0.0684 0.1950 Uncertain 1_33778226_G->A 1 33778226 33778226 G A snp 235.77 0/1 99 19 9 10 0.53 intronic rs12563102 A3GALT2 AU NM_001080438 exon3 c.5825+35G>A 0.392372 0.253 0.406804 0.3424 0.2955 Uncertain 1_33778591_T->C 1 33778591 33778591 T C snp 112.77 0/1 99 13 8 5 0.38 intronic rs6664593 A3GALT2 AU NM_001080438 exon4 c.6125+100T>C 0.721845 0.751 Uncertain 1_33778625_G->A 1 33778625 33778625 G A snp 119.78 0/1 25 5 1 4 0.8 intronic rs76399999 A3GALT2 AU NM_001080438 exon4 c.6125+134G>A 0.00878594 0.0407 Uncertain 1_33786878_G->A 1 33786878 33786878 G A snp 255.77 0/1 99 17 7 10 0.59 upstream rs59971635 A3GALT2 AU 0.0479233 0.1567 Uncertain 1_33794853_A->G 1 33794853 33794853 A G snp 50.74 1/1 6 2 0 2 1.0 intronic rs7551448 PHC2 AU NM_198040 exon2 c.4282+106A>G 0.998003 1 Uncertain 1_33795531_G->C 1 33795531 33795531 G C snp 44.77 0/1 33 3 1 2 0.67 intronic rs4653043 PHC2 AU NM_198040 exon3 c.5206-140G>C 0.391573 0.252 Uncertain 1_33795572_G->A 1 33795572 33795572 G A snp 331.77 0/1 99 18 8 10 0.56 intronic rs10914684 PHC2 AU NM_198040 exon3 c.5206-99G>A 0.229633 0.2103 Uncertain 1_33795590_A->T 1 33795590 33795590 A T snp 441.77 0/1 99 26 9 17 0.65 intronic rs10914685 PHC2 AU NM_198040 exon3 c.5206-81A>T 0.275559 0.249 Uncertain 1_33796835_A->- 1 33796835 33796835 A - indel 306.73 0/1 91 12 3 9 0.75 intronic rs34504596 PHC2 AU NM_198040 exon4 c.6483-113delA 0.275359 0.249 Uncertain 1_33832865_A->G 1 33832865 33832865 A G snp 2356.77 0/1 99 189 89 100 0.53 exonic rs6425816 PHC2 AU synonymous SNV NM_198040 exon6 c.T828C p.P276P 0.728235 0.7708 0.729817 0.6850 0.7781 Uncertain 1_33834455_A->G 1 33834455 33834455 A G snp 34.77 0/1 63 5 3 2 0.4 intronic rs4653111 PHC2 AU NM_198040 exon10 c.43758+232A>G 0.727037 0.7778 Uncertain 1_33836796_C->G 1 33836796 33836796 C G snp 529.77 0/1 99 50 31 19 0.38 intronic rs7545416 PHC2 AU NM_198040 exon12 c.46230+101C>G 0.728834 0.7708 Uncertain 1_33954352_A->G 1 33954352 33954352 A G snp 50.74 1/1 6 2 0 2 1.0 intronic rs3795418 ZSCAN20 AU NM_145238 exon3 c.9362+101A>G 0.753794 0.7381 Uncertain 1_33954470_G->- 1 33954470 33954470 G - indel 174.87 1/1 15 5 0 5 1.0 intronic rs3838985 ZSCAN20 AU NM_145238 exon3 c.9362+219delG 0.752596 0.7381 Uncertain 1_33957130_C->A 1 33957130 33957130 C A snp 1608.77 0/1 99 123 55 68 0.55 exonic rs3795419 ZSCAN20 AU synonymous SNV NM_145238 exon6 c.C1272A p.A424A 0.194489 0.3651 0.131744 0.1951 0.3859 Uncertain 1_33957152_T->G 1 33957152 33957152 T G snp 3458.77 1/1 99 122 0 122 1.0 exonic rs4403594 ZSCAN20 AU nonsynonymous SNV NM_145238 exon6 c.T1294G p.Y432D 0.999201 1 0.997704 0.9944 1 1 T 0.000 P -0.966 T 0.0 T 0.0 T Pathogenic 1_33960062_A->G 1 33960062 33960062 A G snp 5666.77 1/1 99 201 0 201 1.0 exonic rs9943259 ZSCAN20 AU synonymous SNV NM_145238 exon8 c.A2118G p.A706A 0.752596 0.7381 0.805375 0.7443 0.7444 Uncertain 1_33961147_T->G 1 33961147 33961147 T G snp 687.77 1/1 51 23 0 23 1.0 UTR3 rs3795420 ZSCAN20 AU 0.752796 0.7381 Uncertain 1_33985353_C->G 1 33985353 33985353 C G snp 4943.77 1/1 99 184 0 184 1.0 intronic rs2641959 CSMD2 AU NM_001281956 exon3 c.294-58C>G 0.64357 0.7341 Uncertain 1_33999599_C->A 1 33999599 33999599 C A snp 664.77 0/1 99 52 25 27 0.52 intronic rs1532306 CSMD2 AU NM_001281956 exon9 c.14390+92C>A 0.190495 0.2986 Uncertain 1_34003368_G->A 1 34003368 34003368 G A snp 80.77 0/1 59 5 2 3 0.6 intronic rs2641954 CSMD2 AU NM_001281956 exon11 c.18092+159G>A 0.323682 0.3442 Uncertain 1_34007019_C->T 1 34007019 34007019 C T snp 247.77 0/1 99 18 10 8 0.44 intronic rs75547179 CSMD2 AU NM_001281956 exon13 c.21792+110C>T 0.0135783 0.0605 Uncertain 1_34008297_A->G 1 34008297 34008297 A G snp 490.77 0/1 99 38 19 19 0.5 intronic rs1000418 CSMD2 AU NM_001281956 exon14 c.23202-22A>G 0.238618 0.3423 0.194141 0.2343 0.3470 Uncertain 1_34008665_G->C 1 34008665 34008665 G C snp 144.77 0/1 63 8 3 5 0.63 intronic rs2078248 CSMD2 AU NM_001281956 exon14 c.23379+169G>C 0.196086 0.3353 Uncertain 1_34023253_C->T 1 34023253 34023253 C T snp 56.74 1/1 6 2 0 2 1.0 intronic rs2641963 CSMD2 AU NM_001281956 exon17 c.38216-80C>T Uncertain 1_34024928_T->C 1 34024928 34024928 T C snp 1109.77 0/1 99 118 70 48 0.41 intronic rs16835591 CSMD2 AU NM_001281956 exon18 c.39782+29T>C 0.123003 0.2192 0.1368 0.2374 Uncertain 1_34025030_A->G 1 34025030 34025030 A G snp 1462.77 0/1 99 145 80 65 0.45 intronic rs16835593 CSMD2 AU NM_001281956 exon18 c.39956-43A>G 0.120008 0.2192 0.1312 0.2374 Uncertain 1_34038214_T->C 1 34038214 34038214 T C snp 1519.77 0/1 99 140 74 66 0.47 exonic rs2641962 CSMD2 AU nonsynonymous SNV NM_052896 exon51 c.A7660G p.M2554V 0.509984 0.4087 0.484930 0.4996 0.3764 0.68 T 0.972 P -0.933 T 0.0 T 0.001 T Pathogenic 1_34038413_A->C 1 34038413 34038413 A C snp 146.77 0/1 99 16 10 6 0.38 intronic rs2794602 CSMD2 AU NM_001281956 exon22 c.53174+122A>C 0.523762 0.4018 Uncertain 1_34042834_C->A 1 34042834 34042834 C A snp 43.77 0/1 72 4 2 2 0.5 intronic rs16835628 CSMD2 AU NM_001281956 exon23 c.57778-61C>A 0.118211 0.2222 Uncertain 1_34043170_C->- 1 34043170 34043170 C - indel 1535.73 1/1 99 51 0 51 1.0 intronic rs11291100 CSMD2 AU NM_001281956 exon23 c.57967+86delC 0.9998 0.999 Uncertain 1_34052305_C->T 1 34052305 34052305 C T snp 629.77 0/1 99 63 38 25 0.4 intronic rs12727575 CSMD2 AU NM_001281956 exon26 c.67100+88C>T 0.199481 0.2054 Uncertain 1_34052403_A->G 1 34052403 34052403 A G snp 291.78 1/1 24 8 0 8 1.0 intronic rs6425831 CSMD2 AU NM_001281956 exon26 c.67100+186A>G 0.54393 0.7391 Uncertain 1_34052605_A->G 1 34052605 34052605 A G snp 483.77 1/1 36 14 0 14 1.0 intronic rs7526990 CSMD2 AU NM_001281956 exon27 c.67570-82A>G 0.697284 0.7589 Uncertain 1_34070826_G->A 1 34070826 34070826 G A snp 377.77 1/1 30 10 0 10 1.0 intronic rs12733436 CSMD2 AU NM_001281956 exon30 c.85764-55G>A 0.54353 0.5536 Uncertain 1_34071434_C->T 1 34071434 34071434 C T snp 1077.77 1/1 78 37 0 37 1.0 intronic rs1874044 CSMD2 AU NM_052896 exon29 c.86345-28C>T 0.527756 0.5516 0.520529 0.5932 0.5940 Uncertain 1_34071521_G->A 1 34071521 34071521 G A snp 504.77 0/1 99 63 39 24 0.38 exonic rs117594187 CSMD2 AU synonymous SNV NM_052896 exon42 c.C6291T p.T2097T 0.00299521 0.0129 0.000538 0.0014 0.0100 Uncertain 1_34071525_C->T 1 34071525 34071525 C T snp 1693.77 1/1 99 61 0 61 1.0 exonic rs1874045 CSMD2 AU nonsynonymous SNV NM_052896 exon42 c.G6287A p.R2096K 0.518371 0.5516 0.514916 0.5727 0.5781 Pathogenic 1_34158472_C->T 1 34158472 34158472 C T snp 1221.77 0/1 99 79 34 45 0.57 intronic rs12757315 CSMD2 AU NM_001281956 exon47 c.173412-57C>T 0.344848 0.3254 Uncertain 1_34158482_C->T 1 34158482 34158482 C T snp 1350.77 0/1 99 91 39 52 0.57 intronic rs12757320 CSMD2 AU NM_001281956 exon47 c.173412-47C>T 0.344848 0.3254 0.340766 0.3832 0.3102 Uncertain 1_34164286_A->G 1 34164286 34164286 A G snp 108.77 0/1 99 9 5 4 0.44 intronic rs1887918 CSMD2 AU NM_001281956 exon48 c.179235-66A>G 0.367612 0.378 Uncertain 1_34189917_C->T 1 34189917 34189917 C T snp 1698.77 1/1 99 58 0 58 1.0 splicing rs519370 CSMD2 AU NM_001281956 exon53 c.204796+4C>T 0.789736 0.994 0.682531 0.7140 0.9976 Pathogenic 1_34189958_G->- 1 34189958 34189958 G - indel 1303.73 1/1 99 35 0 35 1.0 intronic rs11346874 CSMD2 AU NM_001281956 exon53 c.204796+45delG 1 1 1.0000 1 Uncertain 1_34190903_C->G 1 34190903 34190903 C G snp 337.77 0/1 99 17 5 12 0.71 intronic rs12046855 CSMD2 AU NM_001281956 exon55 c.205832-46C>G 0.00139776 0.0069 0.0007 0.0097 Uncertain 1_34205134_C->T 1 34205134 34205134 C T snp 48.74 1/1 6 2 0 2 1.0 intronic rs12117137 CSMD2 AU NM_001281956 exon57 c.219818+199C>T 0.507188 0.6101 Uncertain 1_34254416_C->T 1 34254416 34254416 C T snp 158.77 0/1 57 9 2 7 0.78 intronic rs6425838 CSMD2 AU NM_001281956 exon60 c.269196+103C>T 0.277955 0.249 Uncertain 1_34270498_G->A 1 34270498 34270498 G A snp 4757.77 1/1 99 180 1 179 0.99 intronic rs10737374 CSMD2 AU NM_001281956 exon62 c.291226-5845G>A 0.884984 0.9633 0.8326 0.9671 0.91 T 0.0 P -1.014 T Uncertain 1_34285342_G->A 1 34285342 34285342 G A snp 1142.77 0/1 99 90 38 52 0.58 exonic rs17342512 CSMD2 AU synonymous SNV NM_052896 exon9 c.C1176T p.A392A 0.601637 0.6627 0.534446 0.5524 0.6625 Uncertain 1_34285381_C->T 1 34285381 34285381 C T snp 1523.77 0/1 99 143 73 70 0.49 exonic rs11578857 CSMD2 AU synonymous SNV NM_052896 exon9 c.G1137A p.K379K 0.601438 0.6627 0.534753 0.5528 0.6635 Uncertain 1_34285995_G->A 1 34285995 34285995 G A snp 375.77 0/1 99 45 27 18 0.4 intronic rs3795414 CSMD2 AU NM_001281956 exon64 c.300952-74G>A 0.482628 0.6161 Uncertain 1_34286189_-->C 1 34286189 34286189 - C indel 466.73 0/1 99 38 17 21 0.55 intronic rs371046549 CSMD2 AU NM_001281956 exon64 c.301040+32insC 0.5198 0.6091 Uncertain 1_34312358_T->A 1 34312358 34312358 T A snp 182.77 0/1 99 14 8 6 0.43 intronic rs746666 CSMD2 AU NM_001281956 exon66 c.327367-126T>A 0.0660942 0.244 Uncertain 1_34329897_T->C 1 34329897 34329897 T C snp 4758.77 1/1 99 169 0 169 1.0 exonic rs911218 HMGB4 AU synonymous SNV NM_145205 exon2 c.T105C p.Y35Y 0.988219 1 0.966861 0.9713 1 Uncertain 1_34330067_A->C 1 34330067 34330067 A C snp 6939.77 1/1 99 245 1 244 1.0 exonic rs10379 HMGB4 AU nonsynonymous SNV NM_145205 exon2 c.A275C p.E92A 0.901158 0.9008 0.823159 0.8262 0.8863 1 T 0.034 P -0.930 T 0.0 T 0.0 T Pathogenic 1_34643837_A->G 1 34643837 34643837 A G snp 1242.77 1/1 93 37 0 37 1.0 intronic rs750572 C1orf94 AU NM_001134734 exon1 c.320+127A>G 0.164337 0.0962 Uncertain 1_34662672_G->C 1 34662672 34662672 G C snp 37.77 0/1 60 4 2 2 0.5 intronic rs67117400 C1orf94 AU NM_001134734 exon2 c.19435-153G>C 0.086262 0.0446 Uncertain 1_34663180_G->A 1 34663180 34663180 G A snp 3162.77 0/1 99 247 128 119 0.48 exonic rs3795412 C1orf94 AU synonymous SNV NM_001134734 exon2 c.G675A p.R225R 0.115016 0.0575 0.182531 0.1537 0.0532 Uncertain 1_34663208_C->G 1 34663208 34663208 C G snp 3097.77 0/1 99 242 125 117 0.48 exonic rs1382602 C1orf94 AU nonsynonymous SNV NM_001134734 exon2 c.C703G p.Q235E 0.379992 0.1409 0.401507 0.2847 0.1244 1 T 0.0 P -0.986 T 0.0 T 0.0 T Pathogenic 1_34663411_C->G 1 34663411 34663411 C G snp 2048.77 0/1 99 169 81 88 0.52 exonic rs1414474 C1orf94 AU nonsynonymous SNV NM_001134734 exon2 c.C906G p.D302E 0.166933 0.0863 0.213056 0.2021 0.0815 0.19 T 0.001 P -0.995 T 0.008 T 0.007 T Pathogenic 1_34663612_T->G 1 34663612 34663612 T G snp 133.03 1/1 12 4 0 4 1.0 intronic rs71647966 C1orf94 AU NM_001134734 exon2 c.20124+98T>G 0.0856629 0.0446 Uncertain 1_34663618_G->A 1 34663618 34663618 G A snp 90.28 1/1 9 3 0 3 1.0 intronic rs67904100 C1orf94 AU NM_001134734 exon2 c.20124+104G>A 0.165735 0.0853 Uncertain 1_34667863_C->A 1 34667863 34667863 C A snp 1860.77 0/1 99 153 77 76 0.5 splicing rs12746310 C1orf94 AU NM_001134734 exon4 c.24470+3C>A 0.138179 0.0734 0.189067 0.1899 0.0698 Pathogenic 1_34684463_G->A 1 34684463 34684463 G A snp 1087.77 1/1 78 43 0 43 1.0 UTR3 rs705207 C1orf94 AU 0.771565 0.7917 Uncertain 1_35135315_C->T 1 35135315 35135315 C T snp 107.77 0/1 99 14 10 4 0.29 upstream rs2147385 MIR552 AU 0.364018 0.4256 0.349540 0.3688 0.4191 Uncertain 1_35183838_A->C 1 35183838 35183838 A C snp 1783.77 1/1 99 64 0 64 1.0 intergenic rs683589 MIR552 AU 0.783347 0.7946 Uncertain 1_35183884_A->C 1 35183884 35183884 A C snp 1160.77 0/1 99 105 56 49 0.47 intergenic rs59601962 MIR552 AU 0.0329473 0.0873 Uncertain 1_35184033_C->T 1 35184033 35184033 C T snp 2845.77 1/1 99 94 0 94 1.0 intergenic rs693582 MIR552 AU 0.782149 0.7946 0.7456 0.7955 Uncertain 1_35184084_C->T 1 35184084 35184084 C T snp 1671.77 1/1 99 54 0 54 1.0 intergenic rs693852 MIR552 AU 0.782548 0.7956 Uncertain 1_35184172_A->T 1 35184172 35184172 A T snp 180.9 1/1 15 5 0 5 1.0 intergenic rs1024219 MIR552 AU 0.784744 0.8056 Uncertain 1_35223248_G->A 1 35223248 35223248 G A snp 2559.77 0/1 99 180 88 92 0.51 exonic rs373223088 GJB5 AU nonsynonymous SNV NM_005268 exon2 c.G317A p.R106Q 0.000199681 0.001 0.000077 0.0002 0.0031 0.58 T 1 N 0.295 D 0.014 T 0.033 T Pathogenic 1_35227362_C->G 1 35227362 35227362 C G snp 3896.77 0/1 99 250 119 131 0.52 exonic rs79193415 GJB4 AR,AD nonsynonymous SNV NM_153212 exon2 c.C507G p.C169W 0.0313498 0.0714 0.028141 0.0349 0.0700 0 D 1.000 D 0.148 D 1.0 D 1.0 D ID=CM073103;DIS=Deafness;TAG=DM?;PUB=17259707 DM? Pathogenic 1_35250720_C->T 1 35250720 35250720 C T snp 2999.77 0/1 99 250 139 111 0.44 exonic rs41310442 GJB3 AU,AD,AO,AR synonymous SNV NM_024009 exon2 c.C357T p.N119N 0.0976438 0.122 0.066969 0.0749 0.1102 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000039321.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 1_35259961_A->G 1 35259961 35259961 A G snp 7354.77 1/1 99 250 0 250 1.0 exonic rs1764390 GJA4 AU synonymous SNV NM_002060 exon2 c.A147G p.Q49Q 0.621406 0.4841 0.706136 0.6175 0.4783 Uncertain 1_35260929_G->A 1 35260929 35260929 G A snp 899.77 1/1 66 28 0 28 1.0 UTR3 rs3543 GJA4 AU 0.655551 0.4831 Uncertain 1_35332926_G->C 1 35332926 35332926 G C snp 626.77 1/1 48 20 0 20 1.0 intronic rs1001616 DLGAP3 AU NM_001080418 exon2 c.1109+134G>C 0.402556 0.8006 Uncertain 1_35366056_C->T 1 35366056 35366056 C T snp 56.74 1/1 6 2 0 2 1.0 intronic rs1931059 DLGAP3 AU NM_001080418 exon9 c.34191+182C>T 0.391174 0.9167 Uncertain 1_35442168_A->C 1 35442168 35442168 A C snp 1562.77 0/1 99 106 46 60 0.57 ncRNA_exonic rs142337170 LOC653160 AU 0.00698882 0.0337 0.0025 0.025 Uncertain 1_35474623_A->C 1 35474623 35474623 A C snp 812.77 0/1 99 40 13 27 0.68 intronic rs74585389 ZMYM6 AU NM_007167 exon6 c.21821+98A>C 0.00559105 0.0278 Uncertain 1_35561510_G->A 1 35561510 35561510 G A snp 641.77 0/1 99 47 17 30 0.64 intronic rs2101973 ZMYM1 AU NM_024772 exon3 c.1904+18G>A 0.557508 0.3522 0.723968 0.7620 0.3622 Uncertain 1_35562965_G->A 1 35562965 35562965 G A snp 3405.77 0/1 99 250 113 137 0.55 exonic rs2971408 ZMYM1 AU nonsynonymous SNV NM_001289089 exon4 c.G217A p.V73M 0.829073 0.7411 0.894716 0.8804 0.7640 0.29 T 0.0 P -1.052 T 0.001 T 0.001 T Pathogenic 1_35563206_C->G 1 35563206 35563206 C G snp 1360.77 0/1 99 78 27 51 0.65 intronic rs6658571 ZMYM1 AU NM_024772 exon4 c.3579+39C>G 0.590056 0.3522 0.753445 0.7709 0.3623 Uncertain 1_35576145_C->T 1 35576145 35576145 C T snp 44.77 0/1 72 5 2 3 0.6 intronic rs2935955 ZMYM1 AU NM_024772 exon7 c.16460+97C>T 0.84365 0.7391 Uncertain 1_35652770_C->G 1 35652770 35652770 C G snp 1748.77 0/1 99 154 76 78 0.51 intronic rs3738697 SFPQ AU NM_005066 exon3 c.2747-33C>G 0.0617013 0.1617 0.012840 0.0343 0.1651 Uncertain 1_35653783_G->C 1 35653783 35653783 G C snp 1196.77 0/1 99 80 39 41 0.51 intronic rs4652873 SFPQ AU NM_005066 exon4 c.3635+92G>C 0.39397 0.6677 Uncertain 1_35654765_G->A 1 35654765 35654765 G A snp 959.77 0/1 99 86 45 41 0.48 intronic rs2088481 SFPQ AU NM_005066 exon6 c.4730-21G>A 0.39397 0.6677 0.198908 0.1774 0.6584 Uncertain 1_35654777_G->A 1 35654777 35654777 G A snp 951.77 0/1 99 88 43 45 0.51 intronic rs2088482 SFPQ AU NM_005066 exon6 c.4730-9G>A 0.398163 0.6677 0.202291 0.1785 0.6593 Uncertain 1_35655014_G->A 1 35655014 35655014 G A snp 1039.77 0/1 99 96 52 44 0.46 intronic rs2101972 SFPQ AU NM_005066 exon6 c.4927+31G>A 0.0471246 0.1458 0.005382 0.0303 0.1659 Uncertain 1_35656064_T->A 1 35656064 35656064 T A snp 977.77 0/1 99 63 27 36 0.57 intronic rs11264114 SFPQ AU NM_005066 exon7 c.6042-34T>A 0.40615 0.6677 0.207109 0.2081 0.6753 Uncertain 1_35656664_G->A 1 35656664 35656664 G A snp 625.77 0/1 99 50 25 25 0.5 intronic rs11264115 SFPQ AU NM_005066 exon8 c.6540+68G>A 0.397364 0.6677 Uncertain 1_35656709_T->C 1 35656709 35656709 T C snp 421.77 0/1 99 23 8 15 0.65 intronic rs72908993 SFPQ AU NM_005066 exon8 c.6540+113T>C 0.0617013 0.1617 Uncertain 1_35657256_T->C 1 35657256 35657256 T C snp 770.77 0/1 99 37 12 25 0.68 intronic rs12040066 SFPQ AU NM_005066 exon9 c.7074+126T>C 0.394768 0.6865 Uncertain 1_35657285_T->C 1 35657285 35657285 T C snp 414.77 0/1 99 17 5 12 0.71 intronic rs12040069 SFPQ AU NM_005066 exon9 c.7074+155T>C 0.397963 0.6865 Uncertain 1_35657874_G->C 1 35657874 35657874 G C snp 357.77 0/1 99 47 30 17 0.36 exonic rs118141562 SFPQ AU synonymous SNV NM_005066 exon1 c.C777G p.P259P 0.401757 0.6865 0.1201 0.6562 Uncertain 1_35863963_A->G 1 35863963 35863963 A G snp 584.77 0/1 99 41 16 25 0.61 intronic rs16837325 ZMYM4 AU NM_005095 exon21 c.129366-50A>G 0.0806709 0.2351 0.019111 0.0372 0.2490 Uncertain 1_35879548_A->G 1 35879548 35879548 A G snp 259.77 0/1 99 20 10 10 0.5 intronic rs77094563 ZMYM4 AU NM_005095 exon27 c.144925-24A>G 0.00419329 0.0208 0.000155 0.0023 0.0320 Uncertain 1_35900615_A->G 1 35900615 35900615 A G snp 1149.77 0/1 99 94 46 48 0.51 exonic rs3814302 KIAA0319L AU synonymous SNV NM_024874 exon21 c.T3030C p.D1010D 0.453674 0.7679 0.224435 0.2044 0.7865 Uncertain 1_35900725_A->C 1 35900725 35900725 A C snp 970.77 0/1 99 73 35 38 0.52 intronic rs10157108 KIAA0319L AU NM_024874 exon1 c.188+43A>C 0.164137 0.2431 0.099723 0.0679 0.2589 Uncertain 1_35908451_T->C 1 35908451 35908451 T C snp 670.77 0/1 99 51 22 29 0.57 intronic rs2275247 KIAA0319L AU NM_024874 exon4 c.8012-55T>C 0.452276 0.7659 Uncertain 1_35910096_T->C 1 35910096 35910096 T C snp 77.77 0/1 99 6 3 3 0.5 intronic rs3738691 KIAA0319L AU NM_024874 exon5 c.9410+192T>C 0.0748802 0.2371 Uncertain 1_35919979_A->G 1 35919979 35919979 A G snp 947.77 0/1 99 52 18 34 0.65 exonic rs10796920 KIAA0319L AU synonymous SNV NM_024874 exon11 c.T1764C p.T588T 0.0770767 0.2371 0.013225 0.0364 0.2501 Uncertain 1_35925861_C->A 1 35925861 35925861 C A snp 3010.77 1/1 99 109 0 109 1.0 intronic rs2819002 KIAA0319L AU NM_024874 exon13 c.25411-44C>A 0.986621 1 0.962863 0.9678 0.9995 Uncertain 1_35926150_T->C 1 35926150 35926150 T C snp 930.77 0/1 99 63 30 33 0.52 intronic rs1768560 KIAA0319L AU NM_024874 exon13 c.25544+112T>C 0.55631 0.7738 Uncertain 1_36023660_T->- 1 36023660 36023660 T - indel 382.73 0/1 99 55 32 23 0.42 UTR5 rs112310803 NCDN AU Uncertain 1_36029343_C->T 1 36029343 36029343 C T snp 2142.77 0/1 99 250 148 102 0.41 intronic rs12094935 NCDN AU NM_001014839 exon7 c.5576-24C>T 0.167931 0.2401 0.103337 0.0676 0.2568 Uncertain 1_36031342_T->A 1 36031342 36031342 T A snp 115.77 0/1 99 16 9 7 0.44 UTR3 rs58718331 NCDN AU 0.434505 0.7649 0.2870 0.8367 Uncertain 1_36032617_C->T 1 36032617 36032617 C T snp 732.77 0/1 99 62 34 28 0.45 downstream rs2107782 NCDN AU 0.309505 0.6528 Uncertain 1_36032657_C->T 1 36032657 36032657 C T snp 401.77 0/1 99 29 16 13 0.45 downstream rs2158594 NCDN AU 0.0960463 0.2341 Uncertain 1_36101730_T->C 1 36101730 36101730 T C snp 261.8 1/1 21 7 0 7 1.0 intronic rs523743 PSMB2 AU NM_002794 exon5 c.33043-180T>C 0.994808 1 Uncertain 1_36107250_G->C 1 36107250 36107250 G C snp 261.8 1/1 21 7 0 7 1.0 UTR5 rs567476 PSMB2 AU 0.994808 1 Uncertain 1_36205166_A->G 1 36205166 36205166 A G snp 635.77 0/1 99 50 24 26 0.52 intronic rs577483 CLSPN AU NM_001190481 exon7 c.3034+36A>G 0.520367 0.2599 0.690989 0.7271 0.2057 Uncertain 1_36213712_G->T 1 36213712 36213712 G T snp 1462.77 1/1 99 50 0 50 1.0 intronic rs516992 CLSPN AU NM_001190481 exon12 c.11566+50G>T 0.975639 1 0.979929 0.9944 1 Uncertain 1_36216835_C->T 1 36216835 36216835 C T snp 68.77 0/1 97 11 8 3 0.27 intronic rs535638 CLSPN AU NM_001190481 exon16 c.14754-15C>T 0.520367 0.2599 0.690557 0.7282 0.2019 Uncertain 1_36225948_T->C 1 36225948 36225948 T C snp 2185.77 0/1 99 166 78 88 0.53 exonic rs7537203 CLSPN AU nonsynonymous SNV NM_001190481 exon8 c.A1574G p.N525S 0.453674 0.7401 0.288713 0.2718 0.7944 0.13 T 0.985 P -1.044 T 0.999 D 0.994 D Pathogenic 1_36282400_AAAAAAAAAAAAA->- 1 36282400 36282412 AAAAAAAAAAAAA - indel 1399.73 0/1 99 18 8 10 0.56 intronic rs554873179 AGO4 AU NM_017629 exon2 c.8465-82_8465-70delAAAAAAAAAAAAA 0.688498 0.8601 Uncertain 1_36282417_A->G 1 36282417 36282417 A G snp 263.77 0/1 99 31 18 13 0.42 intronic rs2791960 AGO4 AU NM_017629 exon2 c.8465-65A>G Uncertain 1_36307120_G->A 1 36307120 36307120 G A snp 1093.77 0/1 99 107 58 49 0.46 intronic rs41308341 AGO4 AU NM_017629 exon14 c.33064+39G>A 0.0335463 0.053214 0.0597 0.0007 Uncertain 1_36316418_-->A 1 36316418 36316418 - A indel 735.73 1/1 39 34 2 32 0.94 intronic rs11403763 AGO4 AU NM_017629 exon17 c.42437-36insA 0.993411 0.9891 0.8292 0.8319 Uncertain 1_36316571_A->C 1 36316571 36316571 A C snp 1278.77 0/1 99 124 66 58 0.47 exonic rs4652895 AGO4 AU synonymous SNV NM_017629 exon17 c.A2394C p.S798S 0.491014 0.253 0.657466 0.7157 0.1941 Uncertain 1_36359669_A->G 1 36359669 36359669 A G snp 356.77 0/1 99 41 26 15 0.37 exonic rs2296470 AGO1 AU synonymous SNV NM_012199 exon6 c.A681G p.P227P 0.306709 0.6558 0.124481 0.1519 0.7228 Uncertain 1_36367377_A->G 1 36367377 36367377 A G snp 105.77 0/1 99 8 4 4 0.5 intronic rs2297957 AGO1 AU NM_012199 exon10 c.18526-171A>G 0.218051 0.6518 Uncertain 1_36367780_A->G 1 36367780 36367780 A G snp 1863.77 0/1 99 165 80 85 0.52 intronic rs595961 AGO1 AU NM_012199 exon11 c.18782-24A>G 0.546326 0.7748 0.348685 0.3055 0.8258 Uncertain 1_36384215_T->C 1 36384215 36384215 T C snp 86.77 0/1 30 4 1 3 0.75 intronic rs654688 AGO1 AU NM_012199 exon17 c.35002+191T>C 0.371406 0.6607 Uncertain 1_36385061_G->A 1 36385061 36385061 G A snp 1233.77 0/1 99 102 49 53 0.52 intronic rs4142288 AGO1 AU NM_012199 exon19 c.36077-38G>A 0.217252 0.6498 0.041179 0.1344 0.7115 Uncertain 1_36439249_C->G 1 36439249 36439249 C G snp 56.74 1/1 6 2 0 2 1.0 intronic rs3736910 AGO3 AU NM_024852 exon5 c.42085+137C>G 0.218051 0.6528 Uncertain 1_36550658_C->T 1 36550658 36550658 C T snp 2194.77 0/1 99 222 122 100 0.45 exonic rs12043423 TEKT2 AU nonsynonymous SNV NM_014466 exon2 c.C136T p.R46C 0.0734824 0.2321 0.020990 0.0310 0.2359 0.18 T 1.000 P -1.029 T 1.0 D 0.986 D Pathogenic 1_36553673_A->G 1 36553673 36553673 A G snp 4193.77 1/1 99 154 0 154 1.0 exonic rs399393 TEKT2 AU synonymous SNV NM_014466 exon10 c.A1179G p.T393T 0.938698 0.999 0.920332 0.9252 0.9992 Uncertain 1_36556757_G->T 1 36556757 36556757 G T snp 509.77 0/1 99 46 25 21 0.46 intronic rs767999 ADPRHL2 AU NM_017825 exon2 c.2339-87G>T 0.0589058 0.2331 Uncertain 1_36556867_C->T 1 36556867 36556867 C T snp 1931.77 0/1 99 159 75 84 0.53 exonic rs768000 ADPRHL2 AU synonymous SNV NM_017825 exon2 c.C234T p.D78D 0.0736821 0.2331 0.020375 0.0310 0.2364 Uncertain 1_36558164_C->T 1 36558164 36558164 C T snp 1203.77 0/1 99 120 64 56 0.47 intronic rs60590162 ADPRHL2 AU NM_017825 exon5 c.3618+41C>T 0.0736821 0.2331 0.020375 0.0310 0.2363 Uncertain 1_36563158_C->A 1 36563158 36563158 C A snp 563.77 0/1 99 36 15 21 0.58 UTR3 rs3738360 COL8A2 AU,AD 0.65635 0.5218 0.783869 0.8004 0.4663 Uncertain 1_36563777_G->A 1 36563777 36563777 G A snp 96.77 0/1 99 19 15 4 0.21 exonic rs117860804 COL8A2 AU,AD nonsynonymous SNV NM_005202 exon4 c.C1505T p.T502M 0.0587061 0.2321 0.0186 0.2969 0.11 T 0.0 P -0.970 T 0.001 T 0.005 T Pathogenic 1_36563797_C->T 1 36563797 36563797 C T snp 180.77 0/1 99 21 14 7 0.33 exonic rs35495320 COL8A2 AU,AD synonymous SNV NM_005202 exon4 c.G1485A p.G495G 0.18151 0.4692 0.022429 0.0584 0.5410 Uncertain 1_36565584_C->G 1 36565584 36565584 C G snp 646.77 1/1 48 20 0 20 1.0 intronic rs274753 COL8A2 AU,AD NM_005202 exon2 c.2481-66C>G 0.921725 0.999 Uncertain 1_36565617_G->A 1 36565617 36565617 G A snp 513.77 0/1 99 40 20 20 0.5 intronic rs274754 COL8A2 AU,AD NM_005202 exon2 c.2481-33G>A 0.482628 0.2609 0.652929 0.6492 0.2092 Uncertain 1_36565999_A->G 1 36565999 36565999 A G snp 136.03 1/1 12 4 0 4 1.0 intronic rs4652900 COL8A2 AU,AD NM_005202 exon2 c.2690+140A>G 0.493411 0.2728 Uncertain 1_36602943_C->T 1 36602943 36602943 C T snp 404.77 0/1 99 36 19 17 0.47 intronic rs2231318 TRAPPC3 AU NM_001270895 exon1 c.120+20C>T 0.750399 0.7063 0.771644 0.7423 0.7195 Uncertain 1_36614713_C->G 1 36614713 36614713 C G snp 463.77 1/1 36 12 0 12 1.0 UTR5 rs10752586 TRAPPC3 AU 0.809505 0.9157 Uncertain 1_36614784_C->G 1 36614784 36614784 C G snp 1316.77 0/1 99 89 41 48 0.54 UTR5 rs2296267 TRAPPC3 AU 0.0533147 0.2093 Uncertain 1_36638949_C->G 1 36638949 36638949 C G snp 1114.77 0/1 99 120 70 50 0.42 intronic rs2296265 MAP7D1 AU NM_001286366 exon5 c.16946-15C>G 0.0463259 0.1726 0.004229 0.0237 0.1742 Uncertain 1_36641729_C->T 1 36641729 36641729 C T snp 171.77 0/1 94 14 4 10 0.71 intronic rs2296263 MAP7D1 AU NM_001286366 exon7 c.19781-70C>T 0.446885 0.502 Uncertain 1_36642065_G->A 1 36642065 36642065 G A snp 367.77 0/1 99 30 17 13 0.43 exonic rs139644057 MAP7D1 AU synonymous SNV NM_001286365 exon6 c.G1005A p.P335P 0.0467252 0.1736 0.003968 0.0495 0.3361 Uncertain 1_36642420_T->C 1 36642420 36642420 T C snp 1192.77 1/1 84 46 0 46 1.0 exonic rs475591 MAP7D1 AU synonymous SNV NM_001286365 exon7 c.T1245C p.S415S 0.750399 0.9137 0.662089 0.6682 0.9305 0.000 P -1.025 T Likely benign 1_36643685_C->A 1 36643685 36643685 C A snp 815.77 0/1 99 68 33 35 0.51 exonic rs12563354 MAP7D1 AU nonsynonymous SNV NM_001286365 exon8 c.C1480A p.R494S 0.0527157 0.1736 0.010094 0.0339 0.2130 0.81 T 0.0 P -1.097 T 0.019 T 0.005 T Pathogenic 1_36643783_C->T 1 36643783 36643783 C T snp 344.77 0/1 99 21 6 15 0.71 exonic rs12563364 MAP7D1 AU synonymous SNV NM_001286365 exon8 c.C1578T p.P526P 0.0527157 0.1736 0.007795 0.0617 0.2961 0.63 T 0.000 P -1.020 T Likely benign 1_36644432_-->GGCG 1 36644432 36644432 - GGCG indel 743.73 0/1 99 33 17 16 0.48 intronic rs142470160 MAP7D1 AU NM_001286366 exon12 c.22406+8insGGCG 0.29373 0.4058 0.122465 0.0873 0.4032 Uncertain 1_36752433_C->T 1 36752433 36752433 C T snp 3832.77 1/1 99 130 0 130 1.0 exonic rs6425977 THRAP3 AU nonsynonymous SNV NM_005119 exon4 c.C602T p.A201V 0.795527 0.9484 0.781255 0.8625 0.9406 0.15 T 0.737 P -1.020 T 0.103 T 0.058 T Pathogenic 1_36762396_C->T 1 36762396 36762396 C T snp 1055.77 1/1 78 34 0 34 1.0 intronic rs1566589 THRAP3 AU NM_005119 exon9 c.14207+25C>T 0.926118 0.9702 0.940181 0.9788 0.9717 Uncertain 1_36767400_C->T 1 36767400 36767400 C T snp 1380.77 1/1 99 44 0 44 1.0 intronic rs882799 THRAP3 AU NM_005119 exon11 c.19133+103C>T 0.794329 0.9484 Uncertain 1_36773405_T->G 1 36773405 36773405 T G snp 5843.77 1/1 99 203 1 202 1.0 exonic rs35343437 SH3D21 AU synonymous SNV NM_024676 exon3 c.T138G p.P46P 0.421126 0.7192 0.399474 0.4518 0.7186 Uncertain 1_36773819_C->G 1 36773819 36773819 C G snp 3496.77 1/1 99 126 0 126 1.0 intronic rs11263871 SH3D21 AU NM_024676 exon5 c.936+9C>G 0.927117 0.9742 0.945028 0.9744 0.9770 Uncertain 1_36785270_C->T 1 36785270 36785270 C T snp 2651.77 1/1 99 91 0 91 1.0 splicing rs2282431 SH3D21 AU NM_024676 exon11 c.12401-5C>T 0.375599 0.6637 0.265221 0.4276 0.7167 Pathogenic 1_36788356_A->G 1 36788356 36788356 A G snp 1084.77 1/1 78 42 0 42 1.0 intronic rs7536394 EVA1B AU NM_001304762 exon1 c.431+30A>G 0.974241 0.9712 0.988743 0.9938 0.9759 Uncertain 1_36809697_C->T 1 36809697 36809697 C T snp 2911.77 0/1 99 225 104 121 0.54 intronic rs3795497 STK40 AU NM_032017 exon4 c.2365-23C>T 0.0061901 0.0159 0.004230 0.0019 0.0126 Uncertain 1_36814528_T->C 1 36814528 36814528 T C snp 759.77 0/1 99 38 14 24 0.63 intronic rs12564657 STK40 AU NM_032017 exon5 c.7061+112T>C 0.0872604 0.2073 Uncertain 1_36859470_G->A 1 36859470 36859470 G A snp 2740.77 0/1 99 216 104 112 0.52 exonic rs78136170 LSM10 AU synonymous SNV NM_032881 exon2 c.C261T p.D87D 0.00958466 0.0149 0.000538 0.0065 0.0175 Uncertain 1_36883946_T->C 1 36883946 36883946 T C snp 2744.77 1/1 99 84 0 84 1.0 intronic rs16822888 OSCP1 AU NM_145047 exon1 c.117+90T>C 0.386581 0.5685 Uncertain 1_36884473_A->G 1 36884473 36884473 A G snp 86.28 1/1 9 3 0 3 1.0 intronic rs57413616 OSCP1 AU NM_145047 exon2 c.852-118A>G 0.386382 0.5685 Uncertain 1_36884530_G->- 1 36884530 36884530 G - indel 389.73 0/1 37 16 2 14 0.88 intronic rs202052052 OSCP1 AU NM_145047 exon2 c.852-61delG 0.154553 0.2569 Uncertain 1_36884698_T->C 1 36884698 36884698 T C snp 3131.77 1/1 99 122 0 122 1.0 intronic rs3738835 OSCP1 AU NM_145047 exon2 c.916+43T>C 0.0808706 0.3065 0.002537 0.0354 0.3045 Uncertain 1_36886364_C->G 1 36886364 36886364 C G snp 676.77 1/1 51 22 0 22 1.0 intronic rs2275478 OSCP1 AU NM_145047 exon3 c.2477+148C>G 0.694489 0.6885 Uncertain 1_36887702_C->T 1 36887702 36887702 C T snp 2431.77 1/1 99 84 0 84 1.0 intronic rs2236565 OSCP1 AU NM_145047 exon4 c.4011-48C>T 0.706669 0.6845 0.703906 0.6545 0.6493 Uncertain 1_36887870_C->T 1 36887870 36887870 C T snp 4463.77 1/1 99 166 0 166 1.0 intronic rs16822940 OSCP1 AU NM_145047 exon4 c.4081+50C>T 0.134585 0.3065 0.090189 0.1089 0.3038 Uncertain 1_36887965_T->C 1 36887965 36887965 T C snp 1578.77 1/1 99 43 0 43 1.0 intronic rs16822942 OSCP1 AU NM_145047 exon4 c.4081+145T>C 0.134784 0.3065 Uncertain 1_36888265_C->T 1 36888265 36888265 C T snp 674.77 1/1 51 18 0 18 1.0 intronic rs16822947 OSCP1 AU NM_145047 exon5 c.4629-103C>T 0.0808706 0.3065 Uncertain 1_36888302_-->T 1 36888302 36888302 - T indel 704.52 1/1 7 42 5 37 0.88 intronic rs35889349 OSCP1 AU NM_145047 exon5 c.4629-66insT Uncertain 1_36888462_A->G 1 36888462 36888462 A G snp 5134.77 1/1 99 218 1 217 1.0 exonic rs1416840 OSCP1 AU nonsynonymous SNV NM_145047 exon6 c.T656C p.I219T 0.135383 0.3065 0.091727 0.1104 0.3042 0.82 T 0.0 P -0.928 T 0.0 T 0.001 T Pathogenic 1_36889005_G->A 1 36889005 36889005 G A snp 4510.77 1/1 99 167 0 167 1.0 exonic rs16822954 OSCP1 AU synonymous SNV NM_145047 exon5 c.C579T p.S193S 0.134585 0.3065 0.090266 0.1093 0.3038 Uncertain 1_36889197_T->C 1 36889197 36889197 T C snp 387.77 1/1 30 10 0 10 1.0 intronic rs11263892 OSCP1 AU NM_145047 exon6 c.5328+130T>C 0.695288 0.6885 Uncertain 1_36889209_A->C 1 36889209 36889209 A C snp 180.9 1/1 15 5 0 5 1.0 intronic rs145090458 OSCP1 AU NM_145047 exon6 c.5328+142A>C 0.134585 0.3065 Uncertain 1_36893968_A->G 1 36893968 36893968 A G snp 4916.77 1/1 99 183 0 183 1.0 exonic rs61308377 OSCP1 AU nonsynonymous SNV NM_206837 exon5 c.T625C p.Y209H 0.134784 0.3075 0.090266 0.1094 0.3047 0.01 T 0.0 P -0.975 T 0.0 T 0.0 T Pathogenic 1_36898249_C->A 1 36898249 36898249 C A snp 3633.77 1/1 99 129 0 129 1.0 intronic rs12563008 OSCP1 AU NM_145047 exon8 c.14451+59C>A 0.0808706 0.3065 Uncertain 1_36898360_G->A 1 36898360 36898360 G A snp 383.77 1/1 30 10 0 10 1.0 intronic rs12566128 OSCP1 AU NM_145047 exon8 c.14451+170G>A 0.134585 0.3065 Uncertain 1_36909567_G->A 1 36909567 36909567 G A snp 5819.77 1/1 99 220 0 220 1.0 intronic rs3795495 OSCP1 AU NM_145047 exon9 c.20772+5056G>A 0.134185 0.3056 0.090958 0.1097 0.3041 Uncertain 1_36913601_T->C 1 36913601 36913601 T C snp 941.77 1/1 69 29 0 29 1.0 intronic rs16823009 OSCP1 AU NM_145047 exon10 c.32119-2257T>C 0.134585 0.3056 Uncertain 1_36915751_AA->- 1 36915751 36915752 AA - indel 497.74 1/1 30 10 0 10 1.0 intronic rs3079364 OSCP1 AU NM_145047 exon10 c.32119-107_32119-106delAA 0.134784 0.3056 Uncertain 1_36921227_A->G 1 36921227 36921227 A G snp 254.8 1/1 21 7 0 7 1.0 downstream rs2275479 MRPS15 AU 0.135783 0.3065 Uncertain 1_36921533_A->G 1 36921533 36921533 A G snp 1601.77 1/1 99 61 0 61 1.0 intronic rs2275480 MRPS15 AU NM_031280 exon1 c.138+7A>G 0.135783 0.3065 0.091804 0.1102 0.3080 Uncertain 1_36926409_G->C 1 36926409 36926409 G C snp 4281.77 1/1 99 157 0 157 1.0 intronic rs3738838 MRPS15 AU NM_031280 exon4 c.4989+32G>C 0.135383 0.3056 0.092419 0.1114 0.3116 Uncertain 1_36926461_C->T 1 36926461 36926461 C T snp 3048.77 1/1 99 102 0 102 1.0 intronic rs3738840 MRPS15 AU NM_031280 exon4 c.4989+84C>T 0.135383 0.3056 Uncertain 1_36926853_G->A 1 36926853 36926853 G A snp 1274.77 1/1 90 45 0 45 1.0 intronic rs2275476 MRPS15 AU NM_031280 exon5 c.5476-11G>A 0.0806709 0.3056 0.002614 0.0354 0.3041 Uncertain 1_36926946_T->G 1 36926946 36926946 T G snp 2761.77 1/1 99 97 0 97 1.0 intronic rs2275475 MRPS15 AU NM_031280 exon5 c.5525+33T>G 0.135383 0.3056 0.085345 0.1099 0.3044 Uncertain 1_36927733_G->A 1 36927733 36927733 G A snp 2063.77 1/1 99 72 0 72 1.0 exonic rs7065 MRPS15 AU synonymous SNV NM_031280 exon3 c.C207T p.P69P 0.978634 1 0.947409 0.9479 0.9998 Uncertain 1_36929172_G->C 1 36929172 36929172 G C snp 180.9 1/1 15 5 0 5 1.0 intronic rs76179589 MRPS15 AU NM_031280 exon7 c.8018-234G>C 0.141773 0.3046 Uncertain 1_36929533_G->A 1 36929533 36929533 G A snp 3026.77 1/1 99 90 0 90 1.0 intronic rs2275474 MRPS15 AU NM_031280 exon7 c.8063+82G>A 0.0802716 0.3056 Uncertain 1_36929660_-->TCTCCCCTACTCCTGTGCTTCCT 1 36929660 36929660 - TCTCCCCTACTCCTGTGCTTCCT indel 24523.7 1/1 99 141 0 141 1.0 intronic rs369032961 MRPS15 AU NM_031280 exon8 c.8358-86insTCTCCCCTACTCCTGTGCTTCCT Uncertain 1_36929988_T->C 1 36929988 36929988 T C snp 644.77 1/1 48 19 0 19 1.0 UTR5 rs3806289 MRPS15 AU 0.141174 0.3075 Uncertain 1_36939294_T->C 1 36939294 36939294 T C snp 4302.77 1/1 99 146 0 146 1.0 intronic rs2275471 CSF3R AR NM_156039 exon13 c.7407-70T>C 0.077476 0.3145 Uncertain 1_37282927_G->A 1 37282927 37282927 G A snp 678.77 0/1 99 51 24 27 0.53 intronic rs376032792 GRIK3 AU NM_000831 exon4 c.15427+49G>A 0.000199681 0.001 0.000077 0.0003 0.0022 Uncertain 1_37335233_C->T 1 37335233 37335233 C T snp 572.77 0/1 99 45 23 22 0.49 intronic rs575247 GRIK3 AU NM_000831 exon12 c.67897-115C>T 0.0611022 0.0496 Uncertain 1_37335458_A->G 1 37335458 37335458 A G snp 1245.77 1/1 90 41 0 41 1.0 intronic rs577094 GRIK3 AU NM_000831 exon12 c.67951+56A>G 0.917532 0.9871 0.881735 Uncertain 1_37335485_A->G 1 37335485 37335485 A G snp 562.77 1/1 42 17 0 17 1.0 intronic rs509284 GRIK3 AU NM_000831 exon12 c.67951+83A>G 0.917532 0.9871 Uncertain 1_37335494_G->T 1 37335494 37335494 G T snp 476.77 1/1 36 13 0 13 1.0 intronic rs577813 GRIK3 AU NM_000831 exon12 c.67951+92G>T 0.917532 0.9871 Uncertain 1_37335551_G->A 1 37335551 37335551 G A snp 56.74 1/1 6 2 0 2 1.0 intronic rs3738085 GRIK3 AU NM_000831 exon12 c.67951+149G>A 0.85643 0.9385 Uncertain 1_37337725_G->A 1 37337725 37337725 G A snp 56.77 0/1 85 15 12 3 0.2 intronic rs536787 GRIK3 AU NM_000831 exon13 c.70337-63G>A 0.0601038 0.0516 Uncertain 1_37346428_A->G 1 37346428 37346428 A G snp 1117.77 0/1 99 116 73 43 0.37 exonic rs550250 GRIK3 AU synonymous SNV NM_000831 exon3 c.T357C p.N119N 0.0932508 0.1419 0.042519 0.0335 0.1257 Uncertain 1_37346528_C->T 1 37346528 37346528 C T snp 488.77 0/1 99 70 45 25 0.36 intronic rs544774 GRIK3 AU NM_000831 exon14 c.79041+36C>T 0.0926518 0.1419 0.041313 0.0409 0.1464 Uncertain 1_37356469_G->A 1 37356469 37356469 G A snp 475.77 0/1 99 41 24 17 0.41 intronic rs511852 GRIK3 AU NM_000831 exon15 c.89069-51G>A 0.0599042 0.1339 0.018137 Uncertain 1_37626981_T->C 1 37626981 37626981 T C snp 211.77 0/1 99 19 10 9 0.47 upstream rs215756 MIR4255 AU 0.746406 0.8175 Uncertain 1_37941662_G->A 1 37941662 37941662 G A snp 395.77 0/1 99 26 13 13 0.5 intronic rs41267297 ZC3H12A AU NM_025079 exon2 c.443+122G>A 0.137181 0.3363 Uncertain 1_37959450_T->C 1 37959450 37959450 T C snp 2086.77 0/1 99 193 102 91 0.47 UTR3 rs215210 MEAF6 AU 0.730431 0.9038 0.7886 0.8811 Uncertain 1_37959470_C->G 1 37959470 37959470 C G snp 1935.77 0/1 99 177 95 82 0.46 UTR3 rs215211 MEAF6 AU 0.748203 0.9038 Uncertain 1_37961298_C->A 1 37961298 37961298 C A snp 41.77 0/1 70 9 3 6 0.67 intronic rs2783732 MEAF6 AU NM_022756 exon2 c.1786-187C>A 0.650759 0.8601 Uncertain 1_37961307_-->C 1 37961307 37961307 - C indel 136.73 0/1 99 16 11 5 0.31 intronic rs371789033 MEAF6 AU NM_022756 exon2 c.1786-178insC Uncertain 1_37975279_C->T 1 37975279 37975279 C T snp 816.77 1/1 60 26 0 26 1.0 intronic rs215214 MEAF6 AU NM_022756 exon6 c.15444+136C>T 0.945088 0.9603 Uncertain 1_37975312_T->C 1 37975312 37975312 T C snp 269.8 1/1 21 9 0 9 1.0 intronic rs2036637 MEAF6 AU NM_022756 exon6 c.15444+169T>C 0.730232 0.9613 Uncertain 1_38006359_A->G 1 38006359 38006359 A G snp 2093.77 1/1 99 74 0 74 1.0 splicing rs2174769 SNIP1 AR NM_024700 exon2 c.3008+3A>G 0.722045 0.9702 0.723820 0.8128 0.9639 Pathogenic 1_38018536_G->A 1 38018536 38018536 G A snp 157.78 0/1 24 6 1 5 0.83 intronic rs11264072 SNIP1 AR NM_024700 exon3 c.15000+188G>A 0.0888578 0.0585 Uncertain 1_38019747_C->T 1 38019747 38019747 C T snp 1315.77 0/1 99 147 91 56 0.38 exonic rs2273013 SNIP1 AR synonymous SNV NM_024700 exon1 c.G84A p.V28V 0.229233 0.3938 0.146923 0.2183 0.3880 Uncertain 1_38022452_C->A 1 38022452 38022452 C A snp 710.77 1/1 54 23 0 23 1.0 upstream rs2273014 DNALI1 AU 0.400559 0.5675 Uncertain 1_38030696_T->C 1 38030696 38030696 T C snp 1589.77 1/1 99 53 0 53 1.0 UTR3 rs6619 DNALI1 AU 0.410942 0.5694 0.375519 0.4452 0.5627 Uncertain 1_38046920_G->T 1 38046920 38046920 G T snp 4136.77 1/1 99 145 0 145 1.0 intronic rs2360010 GNL2 AU NM_013285 exon9 c.15368-903G>T 0.729433 0.9712 0.7375 0.9545 Uncertain 1_38049373_C->T 1 38049373 38049373 C T snp 2980.77 1/1 99 110 0 110 1.0 intronic rs3753372 GNL2 AU NM_013285 exon11 c.17012-94C>T 0.411142 0.5694 Uncertain 1_38049552_C->G 1 38049552 38049552 C G snp 4473.77 1/1 99 167 0 167 1.0 intronic rs6426024 GNL2 AU NM_013285 exon11 c.17079+18C>G 0.730831 0.9712 0.732047 0.8105 0.9639 Uncertain 1_38052867_-->A 1 38052867 38052867 - A indel 1086.25 1/1 9 67 8 59 0.88 intronic rs11420067 GNL2 AU NM_013285 exon12 c.20456-44insA 0.4589 0.4844 Uncertain 1_38061572_G->T 1 38061572 38061572 G T snp 884.77 1/1 66 23 0 23 1.0 UTR5 rs6697632 GNL2 AU 0.755791 0.9702 Uncertain 1_38078300_A->G 1 38078300 38078300 A G snp 2305.77 1/1 99 69 0 69 1.0 UTR3 rs4652964 RSPO1 AU 0.46865 0.6766 Uncertain 1_38148765_A->G 1 38148765 38148765 A G snp 2641.77 1/1 99 93 0 93 1.0 UTR3 rs684260 C1orf109 AU 0.828474 0.9514 0.769183 0.7846 0.9689 Uncertain 1_38155841_A->T 1 38155841 38155841 A T snp 256.8 1/1 21 7 0 7 1.0 intronic rs681191 C1orf109 AU NM_001303030 exon5 c.7093-46A>T 0.540136 0.7054 0.5221 0.8017 Uncertain 1_38161694_A->G 1 38161694 38161694 A G snp 4073.77 1/1 99 156 0 156 1.0 intronic rs615530 CDCA8 AU NM_018101 exon4 c.3260+72A>G 0.582468 0.7034 0.517959 Uncertain 1_38164439_C->- 1 38164439 38164439 C - indel 280.77 1/1 21 7 0 7 1.0 intronic rs3842536 CDCA8 AU NM_018101 exon5 c.6214-137delC 0.365615 0.6746 Uncertain 1_38164724_C->G 1 38164724 38164724 C G snp 3799.77 1/1 99 135 0 135 1.0 intronic rs557290 CDCA8 AU NM_018101 exon5 c.6287+75C>G 0.538339 0.7034 Uncertain 1_38166022_T->C 1 38166022 38166022 T C snp 1868.77 1/1 99 69 0 69 1.0 intronic rs513826 CDCA8 AU NM_018101 exon6 c.7745-85T>C 0.538339 0.7034 Uncertain 1_38166327_A->T 1 38166327 38166327 A T snp 209.84 1/1 18 8 0 8 1.0 intronic rs661460 CDCA8 AU NM_018101 exon6 c.7831+134A>T 0.538339 0.7034 Uncertain 1_38167345_-->A 1 38167345 38167345 - A indel 183.75 1/1 24 21 1 20 0.95 intronic rs71701232 CDCA8 AU NM_018101 exon7 c.9063-80insA 0.306909 0.4722 Uncertain 1_38173984_TTC->- 1 38173984 38173986 TTC - indel 12101.7 1/1 99 216 0 216 1.0 intronic rs145033890 CDCA8 AU NM_018101 exon11 c.15631-9_15631-7delTTC 0.364217 0.6746 0.2783 0.7111 Uncertain 1_38174185_G->T 1 38174185 38174185 G T snp 1023.77 1/1 75 34 0 34 1.0 UTR3 rs557897 CDCA8 AU 0.57488 0.7034 Uncertain 1_38184055_C->T 1 38184055 38184055 C T snp 1183.77 0/1 99 87 40 47 0.54 exonic rs78757428 EPHA10 AU nonsynonymous SNV NM_001099439 exon17 c.G3016A p.V1006M 0.0109824 0.0536 0.000080 0.0055 0.0586 0.02 T 1 D -0.443 T 0.999 D 0.956 D Pathogenic 1_38185169_G->A 1 38185169 38185169 G A snp 1697.77 0/1 99 144 68 76 0.53 exonic rs35909785 EPHA10 AU synonymous SNV NM_001099439 exon15 c.C2673T p.P891P 0.0990415 0.2351 0.032413 0.0462 0.2371 Uncertain 1_38226964_C->T 1 38226964 38226964 C T snp 365.77 0/1 99 43 27 16 0.37 UTR3 rs55695553 EPHA10 AU 0.185104 0.2212 Uncertain 1_38272660_G->A 1 38272660 38272660 G A snp 1237.77 0/1 99 122 66 56 0.46 intronic rs2291297 YRDC AU NM_024640 exon3 c.3052+12G>A 0.204673 0.2639 0.218130 0.2609 0.2749 Uncertain 1_38289383_T->C 1 38289383 38289383 T C snp 2352.77 0/1 99 204 108 96 0.47 exonic rs12751325 MTF1 AU synonymous SNV NM_005955 exon8 c.A1170G p.T390T 0.211462 0.2639 0.227049 0.2655 0.2772 Uncertain 1_38293992_C->T 1 38293992 38293992 C T snp 1366.77 1/1 96 53 0 53 1.0 intronic rs9329568 MTF1 AU NM_005955 exon5 c.17109-3924C>T 0.955072 1 Uncertain 1_38301235_C->T 1 38301235 38301235 C T snp 457.77 0/1 99 31 16 15 0.48 intronic rs56659814 MTF1 AU NM_005955 exon7 c.20535-107C>T 0.058107 0.1726 Uncertain 1_38301250_A->G 1 38301250 38301250 A G snp 698.77 0/1 99 41 20 21 0.51 intronic rs3912368 MTF1 AU NM_005955 exon7 c.20535-92A>G 0.523962 0.4792 Uncertain 1_38301476_G->A 1 38301476 38301476 G A snp 816.77 0/1 99 58 27 31 0.53 intronic rs3762359 MTF1 AU NM_005955 exon7 c.20609+60G>A 0.523163 0.4802 0.601183 Uncertain 1_38327982_G->T 1 38327982 38327982 G T snp 1421.77 0/1 99 133 73 60 0.45 UTR3 rs3843 INPP5B AU 0.525559 0.4802 0.603702 0.6405 0.5007 Uncertain 1_38332057_-->TC 1 38332057 38332057 - TC indel 551.73 0/1 99 56 36 20 0.36 intronic rs372024625 INPP5B AU NM_005540 exon4 c.4144-73insTC Uncertain 1_38332075_CTCTCACA->- 1 38332075 38332082 CTCTCACA - indel 4390.73 0/1 99 75 26 49 0.65 intronic rs149926262 INPP5B AU NM_005540 exon4 c.4144-55_4144-48delCTCTCACA 0.099549 ID=COSN168854;OCCURENCE=1(large_intestine) Uncertain 1_38338795_A->G 1 38338795 38338795 A G snp 2485.77 0/1 99 243 130 113 0.47 exonic rs11488569 INPP5B AU nonsynonymous SNV NM_001297434 exon13 c.T1502C p.M501T 0.523562 0.4752 0.602778 0.6401 0.4994 0.65 T 0.0 P -0.950 T 0.0 T 0.0 T Pathogenic 1_38341518_G->A 1 38341518 38341518 G A snp 222.84 1/1 18 6 0 6 1.0 intronic rs12752414 INPP5B AU NM_005540 exon8 c.13402+130G>A 0.955471 1 Uncertain 1_38345896_A->C 1 38345896 38345896 A C snp 413.77 0/1 99 28 11 17 0.61 intronic rs2306427 INPP5B AU NM_005540 exon10 c.17880+30A>C 0.522963 0.4752 0.601362 0.6410 0.4998 Uncertain 1_38352849_G->C 1 38352849 38352849 G C snp 290.77 0/1 99 24 13 11 0.46 intronic rs2279261 INPP5B AU NM_005540 exon14 c.25036-173G>C 0.522564 0.4742 Uncertain 1_38397341_G->A 1 38397341 38397341 G A snp 1841.77 0/1 99 153 78 75 0.49 splicing rs34655914 INPP5B AU NM_001297434 exon18 c.69358-3G>A 0.355032 0.3185 0.5348 0.37 0.11 T 0.016 P -0.939 T 0.0 T 0.0 T Pathogenic 1_38397369_C->T 1 38397369 38397369 C T snp 1980.77 0/1 99 182 97 85 0.47 exonic rs35267671 INPP5B AU nonsynonymous SNV NM_001297434 exon1 c.G16A p.G6S 0.355232 0.3185 0.5872 0.492 0 D 1.000 P -0.936 T 0.697 T 0.077 P Pathogenic 1_38411350_C->T 1 38411350 38411350 C T snp 1851.77 0/1 99 136 57 79 0.58 intronic rs11485595 INPP5B AU NM_005540 exon22 c.83441-77C>T 0.280551 0.3155 Uncertain 1_38411445_G->A 1 38411445 38411445 G A snp 2580.77 0/1 99 209 95 114 0.55 exonic rs871524 INPP5B AU synonymous SNV NM_005540 exon3 c.C135T p.H45H 0.201877 0.2401 0.234417 0.2858 0.2332 Uncertain 1_38423853_G->C 1 38423853 38423853 G C snp 1159.77 1/1 87 35 0 35 1.0 UTR3 rs9293 SF3A3 AU 0.922125 1 0.896817 0.8891 0.9987 Uncertain 1_38425724_T->C 1 38425724 38425724 T C snp 1257.77 1/1 90 43 0 43 1.0 intronic rs17531342 SF3A3 AU NM_006802 exon2 c.1934-67T>C 0.922923 1 0.893561 Uncertain 1_38425895_T->C 1 38425895 38425895 T C snp 2001.77 1/1 99 72 0 72 1.0 intronic rs28675056 SF3A3 AU NM_006802 exon2 c.1990+48T>C 0.922923 1 0.896663 0.8899 0.9987 Uncertain 1_38442547_G->A 1 38442547 38442547 G A snp 6076.77 1/1 99 230 0 230 1.0 intronic rs10890216 SF3A3 AU NM_006802 exon6 c.18698-8G>A 0.921526 1 0.895186 0.8885 0.9987 Uncertain 1_38444749_T->C 1 38444749 38444749 T C snp 761.77 0/1 99 52 23 29 0.56 intronic rs7555461 SF3A3 AU NM_006802 exon8 c.20870+22T>C 0.499401 0.6825 0.417013 0.4620 0.6712 Uncertain 1_38447615_G->T 1 38447615 38447615 G T snp 382.77 1/1 30 13 0 13 1.0 intronic rs7533079 SF3A3 AU NM_006802 exon11 c.23626+132G>T 0.905551 0.999 Uncertain 1_38449910_T->C 1 38449910 38449910 T C snp 1474.77 0/1 99 125 69 56 0.45 exonic rs11210870 SF3A3 AU synonymous SNV NM_006802 exon6 c.A399G p.E133E 0.292931 0.2421 0.279410 0.3370 0.2764 Uncertain 1_38450367_A->G 1 38450367 38450367 A G snp 6349.77 1/1 99 237 0 237 1.0 intronic rs6680796 SF3A3 AU NM_006802 exon13 c.26521-11A>G 0.923323 1 0.896894 0.8900 0.9985 Uncertain 1_38453576_A->C 1 38453576 38453576 A C snp 1754.77 0/1 99 150 73 77 0.51 intronic rs10890285 SF3A3 AU NM_006802 exon15 c.29651+68A>C 0.369409 0.502 0.305738 Uncertain 1_38455389_C->T 1 38455389 38455389 C T snp 1462.77 1/1 99 51 0 51 1.0 intronic rs3935867 SF3A3 AU NM_006802 exon16 c.31410+122C>T 0.904353 0.998 Uncertain 1_38462898_T->A 1 38462898 38462898 T A snp 730.77 1/1 54 26 0 26 1.0 UTR3 rs4274021 FHL3 AU 0.936102 0.998 Uncertain 1_38462905_C->G 1 38462905 38462905 C G snp 831.77 1/1 60 27 0 27 1.0 UTR3 rs12724533 FHL3 AU 0.937101 0.998 Uncertain 1_38463504_C->T 1 38463504 38463504 C T snp 2902.77 0/1 99 249 137 112 0.45 exonic rs7366048 FHL3 AU synonymous SNV NM_001243878 exon4 c.G216A p.P72P 0.575679 0.6756 0.497463 0.4748 0.6674 Uncertain 1_38464639_C->G 1 38464639 38464639 C G snp 7695.77 1/1 99 250 1 249 1.0 intronic rs4570384 FHL3 AU NM_001243878 exon4 c.1569-6C>G 0.998003 1 0.998232 0.9995 1 Uncertain 1_38554751_T->C 1 38554751 38554751 T C snp 56.74 1/1 6 3 0 3 1.0 upstream rs554916 MIR3659 AU 0.733427 0.9335 Uncertain 1_39305403_C->T 1 39305403 39305403 C T snp 1398.77 0/1 99 140 78 62 0.44 intronic rs17499125 RRAGC AU NM_022157 exon1 c.152+27C>T 0.102037 0.1329 0.151776 0.1720 0.1256 Uncertain 1_39325063_T->C 1 39325063 39325063 T C snp 312.77 0/1 99 34 17 17 0.5 intronic rs1925678 RRAGC AU NM_022157 exon7 c.19857-18T>C 0.418131 0.4048 0.4998 0.4076 Uncertain 1_39330399_G->A 1 39330399 39330399 G A snp 1372.77 0/1 99 128 67 61 0.48 ncRNA_intronic rs3828041 GJA9-MYCBP AU 0.101837 0.1329 0.149854 0.1698 0.1244 Uncertain 1_39340862_A->G 1 39340862 39340862 A G snp 3116.77 0/1 99 250 135 115 0.46 exonic rs874243 GJA9 AU synonymous SNV NM_030772 exon2 c.T909C p.S303S 0.103634 0.1319 0.154775 0.1721 0.1237 Uncertain 1_39361569_G->A 1 39361569 39361569 G A snp 475.77 0/1 99 37 18 19 0.51 intronic rs12085567 RHBDL2 AU NM_001304746 exon4 c.9465-71G>A 0.125799 0.13 Uncertain 1_39385086_A->C 1 39385086 39385086 A C snp 444.77 0/1 99 33 16 17 0.52 intronic rs7522863 RHBDL2 AU NM_001304746 exon7 c.32834+77A>C 0.844249 0.7331 Uncertain 1_39391842_T->C 1 39391842 39391842 T C snp 382.77 0/1 99 21 8 13 0.62 intronic rs16825647 RHBDL2 AU NM_001304746 exon8 c.42891-3224T>C 0.0157748 0.0734 Uncertain 1_39494687_G->A 1 39494687 39494687 G A snp 205.77 0/1 99 28 18 10 0.36 intronic rs3768323 NDUFS5 AU NM_004552 exon2 c.216+75G>A 0.539736 0.4018 Uncertain 1_39550138_C->T 1 39550138 39550138 C T snp 760.77 0/1 99 79 52 27 0.34 intronic rs117942915 MACF1 AU NM_012090 exon1 c.220+28C>T 0.00838658 0.0407 0.000308 0.0046 0.0695 Uncertain 1_39550210_C->T 1 39550210 39550210 C T snp 586.77 1/1 45 16 0 16 1.0 intronic rs260972 MACF1 AU NM_012090 exon1 c.220+100C>T 0.833466 1 Uncertain 1_39717566_T->C 1 39717566 39717566 T C snp 1300.77 1/1 93 52 0 52 1.0 intronic rs2490948 MACF1 AU NM_012090 exon3 c.165885+1791T>C 0.957268 0.998 0.9905 1 Uncertain 1_39734598_G->C 1 39734598 39734598 G C snp 4281.77 1/1 99 144 0 144 1.0 intronic rs16826022 MACF1 AU NM_012090 exon5 c.173810+10898G>C 0.0974441 0.12 0.1338 0.1010 0.02 T 1.0 P -0.664 T Uncertain 1_39748921_G->A 1 39748921 39748921 G A snp 2689.77 1/1 99 96 1 95 0.99 exonic rs2275188 MACF1 AU synonymous SNV NM_012090 exon7 c.G771A p.Q257Q 0.59405 0.6498 0.577810 0.6818 0.6356 Uncertain 1_39758955_A->G 1 39758955 39758955 A G snp 129.03 1/1 12 4 0 4 1.0 intronic rs2484749 MACF1 AU NM_012090 exon17 c.209239-174A>G 0.711861 0.6706 Uncertain 1_39758993_C->G 1 39758993 39758993 C G snp 383.77 1/1 30 11 0 11 1.0 intronic rs6688708 MACF1 AU NM_012090 exon17 c.209239-136C>G 0.651558 0.6706 Uncertain 1_39763242_G->A 1 39763242 39763242 G A snp 5025.77 1/1 99 178 0 178 1.0 intronic rs2275187 MACF1 AU NM_012090 exon20 c.213401-49G>A 0.583866 0.5982 0.577349 0.6776 0.5777 Uncertain 1_39766055_C->T 1 39766055 39766055 C T snp 1911.77 1/1 99 64 0 64 1.0 intronic rs2275186 MACF1 AU NM_012090 exon21 c.216144+21C>T 0.598842 0.6696 0.577656 0.6917 0.6598 Uncertain 1_39797055_A->G 1 39797055 39797055 A G snp 3294.77 1/1 99 115 0 115 1.0 intronic rs16826069 MACF1 AU NM_012090 exon35 c.243135+4030A>G 0.159944 0.2629 0.165231 0.2123 0.2842 0.18 T 1.000 P -1.090 T 0.0 T 0.0 T Uncertain 1_39802283_G->C 1 39802283 39802283 G C snp 259.77 0/1 99 30 17 13 0.43 intronic rs118188721 MACF1 AU NM_012090 exon35 c.243135+9258G>C 0.00738818 0.0357 0.000616 0.0038 0.0287 0.08 T 1 N -1.050 T 0.213 T 0.129 T Uncertain 1_39806610_C->T 1 39806610 39806610 C T snp 3328.77 1/1 99 120 0 120 1.0 intronic rs3116396 MACF1 AU NM_012090 exon36 c.265259-8539C>T 0.955272 0.9405 0.964401 0.9838 0.9348 Uncertain 1_39812620_G->T 1 39812620 39812620 G T snp 2086.77 1/1 99 75 0 75 1.0 intronic rs2490944 MACF1 AU NM_012090 exon36 c.265259-2529G>T 0.954273 0.9405 0.963402 0.9836 0.9352 Uncertain 1_39812822_C->A 1 39812822 39812822 C A snp 1967.77 1/1 99 72 0 72 1.0 intronic rs2761764 MACF1 AU NM_012090 exon36 c.265259-2327C>A 0.954273 0.9405 0.963402 0.9836 0.9354 Uncertain 1_39847730_G->A 1 39847730 39847730 G A snp 5356.77 1/1 99 184 0 184 1.0 exonic rs79306726 MACF1 AU nonsynonymous SNV NM_012090 exon50 c.G7568A p.R2523Q 0.0415335 0.1042 0.002999 0.0287 0.1070 0.31 T 1.0 P -1.233 T 1.0 D 0.97 D Pathogenic 1_39894839_A->G 1 39894839 39894839 A G snp 719.77 1/1 54 19 0 19 1.0 intronic rs645061 MACF1 AU NM_012090 exon58 c.345023-74A>G 0.749002 0.623 Uncertain 1_39908701_G->A 1 39908701 39908701 G A snp 671.77 1/1 51 22 0 22 1.0 intronic rs75882914 MACF1 AU NM_012090 exon73 c.358693+118G>A 0.0972444 0.1151 Uncertain 1_39910257_A->T 1 39910257 39910257 A T snp 494.77 1/1 39 16 0 16 1.0 intronic rs78256423 MACF1 AU NM_012090 exon75 c.360443-76A>T 0.0972444 0.1151 Uncertain 1_39927507_G->A 1 39927507 39927507 G A snp 2060.77 1/1 99 64 0 64 1.0 intronic rs783820 MACF1 AU NM_012090 exon88 c.377664-47G>A 0.942093 1 0.940950 0.9586 0.9998 Uncertain 1_39929240_T->C 1 39929240 39929240 T C snp 3450.77 1/1 99 126 1 125 0.99 intronic rs7554206 MACF1 AU NM_012090 exon89 c.379393-43T>C 0.672324 0.6944 0.647086 0.7061 0.6705 Uncertain 1_39930582_A->C 1 39930582 39930582 A C snp 44.74 1/1 6 2 0 2 1.0 intronic MACF1 AU NM_012090 exon89 c.379468+1224A>C Uncertain 1_39957913_A->G 1 39957913 39957913 A G snp 568.77 0/1 99 30 7 23 0.77 exonic rs4660269 BMP8A AU nonsynonymous SNV NM_181809 exon1 c.A250G p.M84V 0.672324 0.6825 0.790334 0.8538 0.6773 0.984 P -1.003 T 0.008 T 0.021 T Pathogenic 1_39958080_C->G 1 39958080 39958080 C G snp 400.77 0/1 99 24 8 16 0.67 intronic rs10888798 BMP8A AU NM_181809 exon1 c.334+83C>G 0.552117 0.5556 Uncertain 1_39976930_C->T 1 39976930 39976930 C T snp 30.77 0/1 59 103 80 23 0.22 exonic rs1737739 BMP8A AU nonsynonymous SNV NM_181809 exon2 c.C419T p.A140V 0.222644 0.3135 0.1806 0.3369 0.000 P -0.989 T 0.987 D 0.636 D Pathogenic 1_39977342_A->T 1 39977342 39977342 A T snp 246.77 0/1 99 54 40 14 0.26 intronic rs199794231 BMP8A AU NM_181809 exon3 c.19764-85A>T Uncertain 1_39977575_C->T 1 39977575 39977575 C T snp 140.18 0/1 10 52 11 41 0.79 exonic rs200415763 BMP8A AU synonymous SNV NM_181809 exon3 c.C672T p.D224D 0.6723 0.6406 Uncertain 1_39981462_G->T 1 39981462 39981462 G T snp 604.77 0/1 99 250 211 39 0.16 intronic rs34458767 BMP8A AU NM_181809 exon3 c.19913+3886G>T Uncertain 1_39986888_G->A 1 39986888 39986888 G A snp 48.74 1/1 6 21 11 10 0.48 intronic rs561572033 BMP8A AU NM_181809 exon4 c.29384-159G>A 0.000399361 0.001 Uncertain 1_39988084_G->A 1 39988084 39988084 G A snp 386.77 0/1 99 126 104 22 0.17 exonic rs6525 BMP8A AU nonsynonymous SNV NM_181809 exon5 c.G878A p.R293H 0.4724 0.4217 0.0 P -0.985 T 0.001 T 0.0 T Pathogenic 1_39988145_T->C 1 39988145 39988145 T C snp 649.77 0/1 99 138 97 41 0.3 exonic rs6524 BMP8A AU synonymous SNV NM_181809 exon5 c.T939C p.L313L 0.0987 0.0736 Uncertain 1_39988914_AG->- 1 39988914 39988915 AG - indel 1289.73 0/1 99 67 34 33 0.49 ncRNA_intronic rs148144829 PPIEL AU 0.0866613 0.3105 Uncertain 1_39991588_G->T 1 39991588 39991588 G T snp 697.77 0/1 99 69 38 31 0.45 ncRNA_intronic rs3738676 PPIEL AU 0.338658 0.4405 Uncertain 1_40033651_C->T 1 40033651 40033651 C T snp 611.77 0/1 99 56 33 23 0.41 ncRNA_intronic rs11206343 LOC101929516 AU 0.091853 0.3115 Uncertain 1_40092089_T->C 1 40092089 40092089 T C snp 748.77 1/1 54 28 0 28 1.0 UTR3 rs2695320 HEYL AU 0.953874 0.999 Uncertain 1_40097136_T->C 1 40097136 40097136 T C snp 477.77 0/1 99 42 24 18 0.43 intronic rs11206504 HEYL AU NM_014571 exon3 c.4989-31T>C 0.0992412 0.1706 0.119406 0.1345 0.1596 Uncertain 1_40098328_T->C 1 40098328 40098328 T C snp 2306.77 1/1 99 86 0 86 1.0 exonic rs784625 HEYL AU nonsynonymous SNV NM_014571 exon2 c.A140G p.H47R 0.989217 0.999 0.992542 0.9887 0.9999 1 T 0.000 P -0.915 T 0.0 T 0.0 T Pathogenic 1_40137754_G->A 1 40137754 40137754 G A snp 750.77 0/1 99 38 15 23 0.61 upstream rs2871601 NT5C1A AU 0.255791 0.3552 0.183700 0.2452 0.4224 Uncertain 1_40149515_A->G 1 40149515 40149515 A G snp 216.77 0/1 99 19 12 7 0.37 intronic rs784633 HPCAL4 AU NM_001282396 exon2 c.1401-93A>G 0.85623 0.8165 Uncertain 1_40149642_G->T 1 40149642 40149642 G T snp 2018.77 0/1 99 206 114 92 0.45 exonic rs784634 HPCAL4 AU synonymous SNV NM_016257 exon3 c.C345A p.R115R 0.85623 0.8165 0.829975 0.8273 0.7934 Uncertain 1_40149870_C->G 1 40149870 40149870 C G snp 664.77 0/1 99 45 25 20 0.44 intronic rs113763288 HPCAL4 AU NM_001282396 exon2 c.1617+46C>G 0.85643 0.8175 0.854137 0.8524 0.8202 Uncertain 1_40150370_C->T 1 40150370 40150370 C T snp 111.77 0/1 99 11 7 4 0.36 intronic rs2746058 HPCAL4 AU NM_001282397 exon2 c.2076+87C>T 0.85603 0.8165 Uncertain 1_40207169_T->G 1 40207169 40207169 T G snp 3852.77 1/1 99 140 0 140 1.0 intronic rs497333 PPIE AU NM_001195007 exon3 c.2509+88T>G 0.573283 0.4633 Uncertain 1_40226103_G->A 1 40226103 40226103 G A snp 545.77 0/1 99 64 42 22 0.34 exonic rs41267037 BMP8B AU synonymous SNV NM_001720 exon7 c.C1197T p.C399C 0.0325479 0.0685 0.019914 0.0335 0.0880 Uncertain 1_40229297_-->C 1 40229297 40229297 - C indel 735.73 1/1 57 19 0 19 1.0 intronic rs71060328 BMP8B AU NM_001720 exon3 c.3293-86insC 0.376597 0.3204 0.437645 Uncertain 1_40229368_A->G 1 40229368 40229368 A G snp 111.77 0/1 99 54 41 13 0.24 exonic rs2463260 PPIE AU nonsynonymous SNV NM_203456 exon10 c.A845G p.E282G 0.365815 0.3075 0.3960 0.2964 1 T 0.0 P -1.027 T 0.0 T 0.0 T Pathogenic 1_40229393_G->A 1 40229393 40229393 G A snp 274.77 0/1 99 68 49 19 0.28 exonic rs77290565 BMP8B AU synonymous SNV NM_001720 exon5 c.C939T p.L313L 0.1087 0.0812 Uncertain 1_40229616_T->G 1 40229616 40229616 T G snp 45.79 0/1 23 3 1 2 0.67 intronic rs202005319 BMP8B AU NM_001720 exon3 c.3373+153T>G Uncertain 1_40230336_C->G 1 40230336 40230336 C G snp 705.77 0/1 99 120 81 39 0.33 exonic rs179472 BMP8B AU nonsynonymous SNV NM_001720 exon4 c.G827C p.S276T 0.3416 0.3509 0.54 T 0.0 P -1.036 T 0.0 T 0.001 T Pathogenic 1_40230385_G->A 1 40230385 40230385 G A snp 193.77 0/1 99 141 123 18 0.13 exonic rs199806017 BMP8B AU nonsynonymous SNV NM_001720 exon4 c.C778T p.R260C 0.0032 0.0409 0.01 T 0.594 N -0.200 T 1.0 D 0.935 D ID=COSM328674;OCCURENCE=1(liver) Pathogenic 1_40235277_A->G 1 40235277 40235277 A G snp 125.85 0/1 17 8 3 5 0.63 UTR3 rs230320 OXCT2 AU 0.258586 0.0942 Uncertain 1_40235331_C->T 1 40235331 40235331 C T snp 112.77 0/1 99 32 14 18 0.56 UTR3 rs1050918 OXCT2 AU 0.0263 0.0348 Uncertain 1_40235345_C->G 1 40235345 40235345 C G snp 76.77 0/1 99 42 29 13 0.31 UTR3 rs577912182 OXCT2 AU 0.0004 0.0056 Uncertain 1_40235448_C->T 1 40235448 40235448 C T snp 670.77 0/1 99 189 110 79 0.42 exonic rs150795467 OXCT2 AU nonsynonymous SNV NM_022120 exon1 c.G1480A p.D494N 0.0539 0.1360 0.03 T 0.086 P 0.886 D 0.988 D 0.784 D Pathogenic 1_40235489_T->C 1 40235489 40235489 T C snp 964.77 0/1 99 249 91 158 0.63 exonic rs1050917 OXCT2 AU nonsynonymous SNV NM_022120 exon1 c.A1439G p.E480G 0.0220 0.0592 1 T 1.000 N -0.754 T 0.0 T 0.0 T Pathogenic 1_40236074_A->C 1 40236074 40236074 A C snp 1354.77 0/1 99 106 47 59 0.56 exonic rs230321 OXCT2 AU nonsynonymous SNV NM_022120 exon1 c.T854G p.L285R 0.2008 0.0688 1 T 0.0 P -1.083 T 0.0 T 0.0 T Pathogenic 1_40236128_T->C 1 40236128 40236128 T C snp 37.77 0/1 66 105 92 13 0.12 exonic rs112946539 OXCT2 AU nonsynonymous SNV NM_022120 exon1 c.A800G p.D267G 0.006009 0.0030 0.0015 0.03 T 1 N -0.538 T 0.866 T 0.61 P ID=COSM3930778;OCCURENCE=2(urinary_tract) Pathogenic 1_40236981_G->A 1 40236981 40236981 G A snp 171.9 1/1 15 5 0 5 1.0 UTR5 rs369406165 OXCT2 AU 0.0543131 0.0952 Uncertain 1_40240691_C->T 1 40240691 40240691 C T snp 255.8 1/1 21 90 62 28 0.31 exonic rs370056406 BMP8B AU synonymous SNV NM_001720 exon2 c.G354A p.L118L 0.0469249 0.0952 0.1048 0.1437 Uncertain 1_40253688_G->A 1 40253688 40253688 G A snp 43.77 0/1 61 4 2 2 0.5 intronic rs11581134 BMP8B AU NM_001720 exon7 c.27733-135G>A 0.0439297 0.1171 Uncertain 1_40253699_C->A 1 40253699 40253699 C A snp 74.77 0/1 58 5 2 3 0.6 intronic rs11585053 BMP8B AU NM_001720 exon7 c.27733-124C>A 0.0427316 0.1171 Uncertain 1_40253726_C->T 1 40253726 40253726 C T snp 264.77 0/1 96 16 4 12 0.75 intronic rs230328 BMP8B AU NM_001720 exon7 c.27733-97C>T 0.45008 0.3155 Uncertain 1_40253768_-->A 1 40253768 40253768 - A indel 948.73 1/1 69 23 0 23 1.0 intronic rs60164088 BMP8B AU NM_001720 exon7 c.27733-55insA 0.494209 0.4315 Uncertain 1_40253770_C->T 1 40253770 40253770 C T snp 622.77 1/1 48 25 0 25 1.0 intronic rs4068800 BMP8B AU NM_001720 exon7 c.27733-53C>T 0.494808 0.4325 Uncertain 1_40253786_C->T 1 40253786 40253786 C T snp 788.77 1/1 57 30 0 30 1.0 intronic rs230329 BMP8B AU NM_001720 exon7 c.27733-37C>T 0.492612 0.4325 0.4873 0.4618 Uncertain 1_40253834_G->A 1 40253834 40253834 G A snp 241.77 0/1 99 46 33 13 0.28 exonic rs140337041 BMP8B AU synonymous SNV NM_001720 exon1 c.C324T p.F108F 0.0439297 0.1171 0.0386 0.1313 Uncertain 1_40253868_C->T 1 40253868 40253868 C T snp 202.77 0/1 99 41 30 11 0.27 exonic rs191429577 BMP8B AU nonsynonymous SNV NM_001720 exon1 c.G290A p.R97Q 0.0439297 0.1171 0.005736 0.0312 0.1065 0.41 T 0.0 P -0.919 T 0.933 T 0.473 D Pathogenic 1_40254099_C->T 1 40254099 40254099 C T snp 73.77 0/1 99 13 7 6 0.46 exonic rs183210360 BMP8B AU nonsynonymous SNV NM_001720 exon1 c.G59A p.G20E 0.0427316 0.1171 0 . 0.42 T 1.000 N -1.179 T 0.414 T 0.122 T Pathogenic 1_40307719_A->G 1 40307719 40307719 A G snp 389.77 1/1 30 10 0 10 1.0 intronic rs230310 TRIT1 AU NM_017646 exon1 c.170+134A>G 0.783746 0.6766 Uncertain 1_40310221_G->A 1 40310221 40310221 G A snp 1619.77 0/1 99 153 86 67 0.44 exonic rs16826617 TRIT1 AU synonymous SNV NM_017646 exon9 c.C1098T p.I366I 0.0301518 0.1071 0.015685 0.0246 0.1104 Uncertain 1_40319496_G->T 1 40319496 40319496 G T snp 732.77 0/1 99 71 36 35 0.49 intronic rs78738576 TRIT1 AU NM_017646 exon9 c.12226-145G>T 0.0299521 0.1062 Uncertain 1_40319587_A->C 1 40319587 40319587 A C snp 1826.77 0/1 99 191 109 82 0.43 intronic rs2294814 TRIT1 AU NM_017646 exon9 c.12226-54A>C 0.605631 0.5933 0.5212 0.6016 Uncertain 1_40349131_G->A 1 40349131 40349131 G A snp 1416.77 0/1 99 111 52 59 0.53 exonic rs3845570 TRIT1 AU synonymous SNV NM_017646 exon1 c.C33T p.P11P 0.508586 0.5933 0.451938 0.4452 0.5952 Uncertain 1_40363054_G->C 1 40363054 40363054 G C snp 2182.77 1/1 99 73 1 72 0.99 exonic rs3134614 MYCL AU nonsynonymous SNV NM_001033082 exon3 c.C1175G p.T392S 0.935703 1 0.903660 0.8865 0.9994 0.71 T 1.0 P -0.955 T 0.0 T 0.0 T Pathogenic 1_40367592_A->G 1 40367592 40367592 A G snp 411.77 1/1 30 19 0 19 1.0 UTR5 rs804719 MYCL AU 1 1 1 . Uncertain 1_40367607_G->C 1 40367607 40367607 G C snp 168.77 0/1 99 18 8 10 0.56 UTR5 rs200275407 MYCL AU 0.014377 0.0635 0 . Uncertain 1_40421073_C->A 1 40421073 40421073 C A snp 953.77 0/1 99 92 46 46 0.5 intronic rs189000715 MFSD2A AR NM_001287809 exon1 c.93+16C>A 0.00479233 0.0119 0.000235 0.0079 0.0344 Uncertain 1_40431727_A->G 1 40431727 40431727 A G snp 437.77 0/1 99 37 17 20 0.54 intronic rs6676052 MFSD2A AR NM_001287809 exon6 c.10722+41A>G 0.179912 0.4196 0.065816 0.0811 0.4280 Uncertain 1_40526003_T->C 1 40526003 40526003 T C snp 760.77 1/1 57 25 0 25 1.0 intronic rs3122419 CAP1 AU NM_006367 exon3 c.824+161T>C 0.848043 0.8829 Uncertain 1_40533266_T->G 1 40533266 40533266 T G snp 1538.77 1/1 99 51 0 51 1.0 exonic rs11207440 CAP1 AU nonsynonymous SNV NM_001105530 exon8 c.T685G p.C229G 1 1 1 1 0.68 T 0.000 P -0.960 T 0.0 T 0.0 T Pathogenic 1_40533287_T->G 1 40533287 40533287 T G snp 1595.77 1/1 99 62 1 61 0.98 exonic rs6665926 CAP1 AU nonsynonymous SNV NM_001105530 exon8 c.T706G p.C236G 1 1 1 1 0.29 T 0.000 P -0.938 T 0.0 T 0.0 T Pathogenic 1_40533315_T->G 1 40533315 40533315 T G snp 1647.77 1/1 99 64 0 64 1.0 exonic rs6665933 CAP1 AU nonsynonymous SNV NM_001105530 exon8 c.T734G p.I245S 1 1 1 1 0.85 T 0.002 P -0.961 T 0.0 T 0.0 T Pathogenic 1_40533320_T->G 1 40533320 40533320 T G snp 1642.77 1/1 99 66 0 66 1.0 exonic rs6665936 CAP1 AU nonsynonymous SNV NM_001105530 exon8 c.T739G p.C247G 1 1 1 1 0.48 T 0.000 P -0.984 T 0.0 T 0.0 T Pathogenic 1_40533326_T->G 1 40533326 40533326 T G snp 1698.77 1/1 99 64 0 64 1.0 exonic rs6665937 CAP1 AU nonsynonymous SNV NM_001105530 exon8 c.T745G p.Y249D 1 1 1 1 0.97 T 0.000 P -0.959 T 0.0 T 0.0 T Pathogenic 1_40533347_T->G 1 40533347 40533347 T G snp 1763.77 1/1 99 65 0 65 1.0 exonic rs6665944 CAP1 AU nonsynonymous SNV NM_001105530 exon8 c.T766G p.S256A 1 1 1 1 1 T 0.0 P -0.953 T 0.0 T 0.001 T Pathogenic 1_40536074_-->T 1 40536074 40536074 - T indel 8860.73 1/1 99 198 0 198 1.0 intronic rs58190778 CAP1 AU NM_006367 exon11 c.11083-27insT 0.736621 0.7411 0.993020 0.9983 1 Uncertain 1_40545964_T->G 1 40545964 40545964 T G snp 3263.77 1/1 99 121 0 121 1.0 intronic rs3122428 PPT1 AR NM_000310 exon4 c.6336-104T>G 0.734225 0.7202 Uncertain 1_40555321_C->T 1 40555321 40555321 C T snp 733.77 1/1 54 22 0 22 1.0 intronic rs3131651 PPT1 AR NM_000310 exon5 c.15452+137C>T 0.446286 0.4534 Uncertain 1_40556922_T->C 1 40556922 40556922 T C snp 2485.77 1/1 99 88 0 88 1.0 intronic rs3122439 PPT1 AR NM_000310 exon6 c.17268-78T>C 0.994209 1 Uncertain 1_40557656_G->A 1 40557656 40557656 G A snp 2158.77 1/1 99 70 0 70 1.0 intronic rs6672053 PPT1 AR NM_000310 exon7 c.17984-60G>A 0.621206 0.6577 Uncertain 1_40558256_C->G 1 40558256 40558256 C G snp 907.77 1/1 69 25 0 25 1.0 intronic rs4481840 PPT1 AR NM_000310 exon8 c.18447+77C>G 0.994609 1 Uncertain 1_40562993_T->C 1 40562993 40562993 T C snp 676.77 1/1 51 19 0 19 1.0 UTR5 rs6600313 PPT1 AR 0.832668 0.881 Uncertain 1_40703440_C->T 1 40703440 40703440 C T snp 3281.77 0/1 99 250 127 123 0.49 exonic rs2235986 RLF AU synonymous SNV NM_012421 exon8 c.C3066T p.S1022S 0.028754 0.1329 0.001153 0.0122 0.1528 ID=COSM146479;OCCURENCE=1(stomach),1(large_intestine) Uncertain 1_40733658_A->G 1 40733658 40733658 A G snp 843.77 0/1 99 48 23 25 0.52 intronic rs7516571 ZMPSTE24 AR NM_005857 exon3 c.9601+114A>G 0.222644 0.2212 CLINSIG=untested;CLNDBN=not_provided;CLNREVSTAT=no_assertion_provided;CLNACC=RCV000128739.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Uncertain 1_40737516_T->G 1 40737516 40737516 T G snp 1409.77 1/1 99 43 0 43 1.0 intronic rs6677717 ZMPSTE24 AR NM_005857 exon6 c.13622-49T>G 0.993211 1 0.989848 0.9859 1 CLINSIG=untested,untested;CLNDBN=not_provided,not_provided;CLNREVSTAT=no_assertion_provided,no_assertion_provided;CLNACC=RCV000128750.1,RCV000128751.1;CLNDSDB=MedGen,MedGen;CLNDSDBID=CN221809,CN221809 Uncertain 1_40737589_T->C 1 40737589 40737589 T C snp 1779.77 0/1 99 133 53 80 0.6 exonic rs2076697 ZMPSTE24 AR synonymous SNV NM_005857 exon6 c.T651C p.D217D 0.127796 0.2093 0.067584 0.1058 0.2381 CLINSIG=untested;CLNDBN=not_provided;CLNREVSTAT=no_assertion_provided;CLNACC=RCV000128752.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Uncertain 1_40771973_C->G 1 40771973 40771973 C G snp 2436.77 0/1 99 197 90 107 0.54 intronic rs2076696 COL9A2 AR,AD,AU NM_001852 exon13 c.5006+114C>G 0.160543 0.3264 Uncertain 1_40771994_G->C 1 40771994 40771994 G C snp 1699.77 0/1 99 154 82 72 0.47 intronic rs2281399 COL9A2 AR,AD,AU NM_001852 exon13 c.5006+135G>C 0.158946 0.2063 Uncertain 1_40773149_T->C 1 40773149 40773149 T C snp 4397.77 1/1 99 155 0 155 1.0 exonic rs2228564 COL9A2 AR,AD,AU nonsynonymous SNV NM_001852 exon19 c.A977G p.Q326R 0.397364 0.6171 0.278102 0.3033 0.5978 0.58 T 0.000 P -0.934 T 0.0 T 0.0 T Pathogenic 1_40776752_C->A 1 40776752 40776752 C A snp 443.77 1/1 33 14 0 14 1.0 intronic rs3737815 COL9A2 AR,AD,AU NM_001852 exon21 c.9911-12C>A 0.178115 0.4266 0.122713 0.1693 0.3886 Uncertain 1_40777800_T->G 1 40777800 40777800 T G snp 933.77 1/1 66 35 0 35 1.0 intronic rs1979785 COL9A2 AR,AD,AU NM_001852 exon25 c.10931+16T>G 0.401558 0.7044 0.272266 0.3268 0.7047 Uncertain 1_40777842_A->G 1 40777842 40777842 A G snp 1010.77 1/1 72 34 0 34 1.0 intronic rs209918 COL9A2 AR,AD,AU NM_001852 exon25 c.10931+58A>G 0.427117 0.7044 0.288655 Uncertain 1_40778377_C->T 1 40778377 40778377 C T snp 645.77 0/1 99 70 42 28 0.4 intronic rs1983658 COL9A2 AR,AD,AU NM_001852 exon28 c.11549-25C>T 0.374401 0.6736 0.237733 0.3347 0.7099 Uncertain 1_40781038_G->A 1 40781038 40781038 G A snp 168.9 1/1 15 5 0 5 1.0 intronic rs1846158 COL9A2 AR,AD,AU NM_001852 exon31 c.14408-223G>A 0.233027 0.496 Uncertain 1_40781176_G->- 1 40781176 40781176 G - indel 2557.73 1/1 99 78 0 78 1.0 intronic rs111700365 COL9A2 AR,AD,AU NM_001852 exon31 c.14408-85delG 0.423922 0.6954 Uncertain 1_40781177_A->C 1 40781177 40781177 A C snp 2095.77 1/1 99 68 0 68 1.0 intronic rs115504008 COL9A2 AR,AD,AU NM_001852 exon31 c.14408-84A>C 0.420327 0.6875 Uncertain 1_40840269_GT->- 1 40840269 40840270 GT - indel 871.14 1/1 10 35 7 28 0.8 intronic rs72258841 SMAP2 AU NM_022733 exon1 c.103+374_103+375delGT Uncertain 1_40840296_T->A 1 40840296 40840296 T A snp 608.77 0/1 99 51 26 25 0.49 intronic rs4561032 SMAP2 AU NM_022733 exon1 c.103+401T>A 0.452077 0.4772 Uncertain 1_40840353_A->G 1 40840353 40840353 A G snp 2836.77 1/1 99 111 0 111 1.0 UTR5 rs1003710 SMAP2 AU 0.576278 0.5843 0.5034 0.5490 Uncertain 1_40872623_C->T 1 40872623 40872623 C T snp 77.77 0/1 99 8 4 4 0.5 intronic rs2982510 SMAP2 AU NM_001198979 exon2 c.13453+82C>T 0.317093 0.2857 Uncertain 1_40879636_T->C 1 40879636 40879636 T C snp 99.28 1/1 9 3 0 3 1.0 intronic rs209604 SMAP2 AU NM_001198980 exon6 c.5503-194T>C 0.948083 0.9772 Uncertain 1_40879808_G->T 1 40879808 40879808 G T snp 4081.77 1/1 99 149 0 149 1.0 intronic rs209605 SMAP2 AU NM_001198980 exon6 c.5503-22G>T 0.861222 0.7708 0.942334 0.8577 0.7723 Uncertain 1_40879952_T->G 1 40879952 40879952 T G snp 1870.77 0/1 99 166 85 81 0.49 intronic rs2294752 SMAP2 AU NM_001198980 exon6 c.5585+40T>G 0.319289 0.2867 0.318315 0.2577 0.2971 Uncertain 1_40881041_C->G 1 40881041 40881041 C G snp 4194.77 1/1 99 159 0 159 1.0 exonic rs209606 SMAP2 AU synonymous SNV NM_001198978 exon7 c.C579G p.S193S 0.948083 0.9772 0.915347 0.8978 0.9674 Uncertain 1_40881247_A->G 1 40881247 40881247 A G snp 86.78 0/1 24 4 1 3 0.75 intronic rs72637911 SMAP2 AU NM_001198980 exon7 c.6726+194A>G 0.248602 0.2996 Uncertain 1_40881840_G->A 1 40881840 40881840 G A snp 591.77 0/1 99 37 17 20 0.54 intronic rs1007263 SMAP2 AU NM_001198980 exon8 c.7520-7G>A 0.0948482 0.1766 0.080040 0.0998 0.1613 Uncertain 1_40980731_G->T 1 40980731 40980731 G T snp 2489.77 1/1 99 88 0 88 1.0 exonic rs11208299 EXO5 AU nonsynonymous SNV NM_022774 exon3 c.G515T p.G172V 0.542133 0.5 0.461864 0.4444 0.4951 1 T 0.060 P -0.951 T 0.0 T 0.0 T Pathogenic 1_40998902_A->G 1 40998902 40998902 A G snp 1243.77 1/1 90 45 0 45 1.0 intronic rs1001400 ZNF684 AU NM_152373 exon2 c.15+49A>G 0.384784 0.4732 0.238428 0.2512 0.4770 Uncertain 1_41006545_G->C 1 41006545 41006545 G C snp 141.03 1/1 12 4 0 4 1.0 intronic rs3738471 ZNF684 AU NM_152373 exon3 c.7546+161G>C 0.251797 0.4524 Uncertain 1_41007124_G->A 1 41007124 41007124 G A snp 1147.77 1/1 54 36 1 35 0.97 intronic rs61779162 ZNF684 AU NM_152373 exon4 c.8448-162G>A 0.292732 0.4554 Uncertain 1_41013015_C->T 1 41013015 41013015 C T snp 2859.77 1/1 99 101 0 101 1.0 exonic rs2297755 ZNF684 AU synonymous SNV NM_152373 exon5 c.C1020T p.S340S 0.249201 0.4514 0.105336 0.1847 0.4410 Uncertain 1_41101572_A->G 1 41101572 41101572 A G snp 353.77 0/1 99 40 22 18 0.45 intronic rs2253835 RIMS3 AU NM_014747 exon5 c.9399-15A>G 0.709065 0.5357 0.833461 0.7393 0.5562 Uncertain 1_41107239_G->A 1 41107239 41107239 G A snp 691.77 0/1 99 38 16 22 0.58 intronic rs7535398 RIMS3 AU NM_014747 exon6 c.15192-141G>A 0.216254 0.3194 Uncertain 1_41107360_T->C 1 41107360 41107360 T C snp 2380.77 0/1 99 210 110 100 0.48 intronic rs491619 RIMS3 AU NM_014747 exon6 c.15192-20T>C 0.697883 0.5089 0.824312 0.7278 0.5427 Uncertain 1_41204569_C->T 1 41204569 41204569 C T snp 1068.77 1/1 75 42 0 42 1.0 exonic rs1057925 NFYC AU synonymous SNV NM_001142587 exon2 c.C54T p.S18S 0.482029 0.4692 0.537598 0.5294 0.5043 Uncertain 1_41215075_T->A 1 41215075 41215075 T A snp 222.84 1/1 18 6 0 6 1.0 intronic rs3818758 NFYC AU NM_001142587 exon4 c.10729-169T>A 0.251398 0.3958 Uncertain 1_41228898_G->A 1 41228898 41228898 G A snp 56.74 1/1 6 2 0 2 1.0 intronic rs4660454 NFYC AU NM_001142587 exon7 c.24203+180G>A 0.916933 0.9901 Uncertain 1_41229180_G->A 1 41229180 41229180 G A snp 187.9 1/1 15 7 0 7 1.0 intronic rs4660455 NFYC AU NM_001142587 exon7 c.24203+462G>A 0.916733 0.9901 0.9058 0.9921 Uncertain 1_41235177_G->C 1 41235177 41235177 G C snp 980.77 1/1 72 34 0 34 1.0 intronic rs10889608 NFYC AU NM_001142587 exon9 c.30572+90G>C 0.377596 0.4484 Uncertain 1_41235946_G->A 1 41235946 41235946 G A snp 563.77 1/1 42 17 0 17 1.0 intronic rs3754176 NFYC AU NM_001142589 exon9 c.31865-434G>A 0.294129 0.3958 Uncertain 1_41282919_C->T 1 41282919 41282919 C T snp 2489.77 1/1 99 94 0 94 1.0 intronic rs13374844 KCNQ4 AD NM_172163 exon2 c.33171-17C>T 0.200479 0.3363 0.148239 0.1754 0.3152 Uncertain 1_41282921_C->T 1 41282921 41282921 C T snp 2563.77 1/1 99 96 0 96 1.0 intronic rs13374845 KCNQ4 AD NM_172163 exon2 c.33171-15C>T 0.198482 0.3363 0.148085 0.1737 0.3129 Uncertain 1_41283147_A->G 1 41283147 41283147 A G snp 41.77 0/1 70 5 3 2 0.4 intronic rs2281965 KCNQ4 AD NM_172163 exon2 c.33262+120A>G Uncertain 1_41284119_C->G 1 41284119 41284119 C G snp 1041.77 1/1 78 45 2 43 0.96 intronic rs2296838 KCNQ4 AD NM_172163 exon4 c.34411-57C>G 0.199481 0.3373 Uncertain 1_41284366_G->C 1 41284366 41284366 G C snp 2044.77 1/1 99 74 0 74 1.0 intronic rs2361660 KCNQ4 AD NM_172163 exon4 c.34587+14G>C 0.567492 0.4841 0.691697 0.6757 0.5163 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000038246.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 1_41284406_A->G 1 41284406 41284406 A G snp 1254.77 1/1 90 42 0 42 1.0 intronic rs2361659 KCNQ4 AD NM_172163 exon4 c.34587+54A>G 0.566893 0.4841 Uncertain 1_41285087_T->C 1 41285087 41285087 T C snp 6488.77 1/1 99 232 1 231 1.0 exonic rs4660468 KCNQ4 AD synonymous SNV NM_004700 exon5 c.T777C p.A259A 0.563299 0.4683 0.676303 0.6512 0.4488 1.000 P CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000038247.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 1_41285553_T->C 1 41285553 41285553 T C snp 2641.77 0/1 99 241 122 119 0.49 exonic rs55737429 KCNQ4 AD synonymous SNV NM_004700 exon6 c.T841C p.L281L 0.038139 0.0635 0.038674 0.0388 0.0575 1 D -1.114 T CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000038248.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Likely benign 1_41285585_G->A 1 41285585 41285585 G A snp 2500.77 0/1 99 197 89 108 0.55 exonic rs12117176 KCNQ4 AD synonymous SNV NM_004700 exon6 c.G873A p.P291P 0.115615 0.247 0.065893 0.1050 0.2151 1.000 P -1.084 T CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000038249.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Likely benign 1_41285591_A->G 1 41285591 41285591 A G snp 2381.77 0/1 99 185 84 101 0.55 exonic rs12143503 KCNQ4 AD synonymous SNV NM_004700 exon6 c.A879G p.T293T 0.116214 0.25 0.063970 0.1051 0.2170 1.000 P -1.055 T CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000038250.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Likely benign 1_41288092_T->G 1 41288092 41288092 T G snp 48.77 0/1 77 33 19 14 0.42 intronic KCNQ4 AD NM_172163 exon8 c.38309+18T>G 4.828e-05 0 Uncertain 1_41288098_T->G 1 41288098 41288098 T G snp 56.77 0/1 85 32 18 14 0.44 intronic KCNQ4 AD NM_172163 exon8 c.38309+24T>G Uncertain 1_41288102_T->G 1 41288102 41288102 T G snp 51.77 0/1 80 29 15 14 0.48 intronic rs376712113 KCNQ4 AD NM_172163 exon8 c.38309+28T>G 0.00399361 0.001 0.000388 0.0036 0 Uncertain 1_41292377_G->A 1 41292377 41292377 G A snp 1307.77 0/1 99 91 38 53 0.58 intronic rs2025897 KCNQ4 AD NM_004700 exon9 c.40165+2447G>A 0.0403355 0.0804 0.0422 0.0746 Uncertain 1_41298546_-->C 1 41298546 41298546 - C indel 374.73 1/1 33 11 0 11 1.0 intronic rs397746889 KCNQ4 AD NM_172163 exon10 c.48920-139insC 0.921326 0.999 Uncertain 1_41298626_G->A 1 41298626 41298626 G A snp 2738.77 0/1 99 173 67 106 0.61 intronic rs566509511 KCNQ4 AD NM_172163 exon10 c.48920-59G>A 0.000599042 Uncertain 1_41298652_T->C 1 41298652 41298652 T C snp 7409.77 1/1 99 250 0 250 1.0 intronic rs913378 KCNQ4 AD NM_172163 exon10 c.48920-33T>C 0.738618 0.8403 0.669614 0.7139 0.8603 Uncertain 1_41298910_G->A 1 41298910 41298910 G A snp 116.77 0/1 66 6 2 4 0.67 intronic rs55916242 KCNQ4 AD NM_172163 exon10 c.49020+125G>A 0.04373 0.0923 Uncertain 1_41304121_G->A 1 41304121 41304121 G A snp 3586.77 0/1 99 250 121 129 0.52 exonic rs754076761 KCNQ4 AD nonsynonymous SNV NM_004700 exon14 c.G2014A p.V672M 5.776e-05 0.0008 0.06 T 0.991 D 1.048 D 0.984 D 0.736 D ID=CM1310603;DIS=Deafness;TAG=DM;PUB=23967202 DM Pathogenic 1_41327873_G->C 1 41327873 41327873 G C snp 160.77 0/1 99 11 3 8 0.73 UTR5 rs12081504 CITED4 AU 0.69389 0.7847 Uncertain 1_41449302_T->C 1 41449302 41449302 T C snp 266.77 0/1 99 12 4 8 0.67 intronic rs72663731 CTPS1 AR NM_001905 exon2 c.166+174T>C 0.120208 0.0972 Uncertain 1_41453287_T->- 1 41453287 41453287 T - indel 4316.73 1/1 99 105 0 105 1.0 intronic rs397979978 CTPS1 AR NM_001905 exon4 c.4182+143delT 0.889177 0.9048 Uncertain 1_41475085_A->G 1 41475085 41475085 A G snp 725.77 0/1 99 82 48 34 0.41 intronic rs12144160 CTPS1 AR NM_001301237 exon13 c.20821-31A>G 0.467851 0.5675 0.462402 0.5378 0.5400 Uncertain 1_41481596_A->G 1 41481596 41481596 A G snp 501.77 0/1 99 37 19 18 0.49 ncRNA_exonic rs41308248 SLFNL1-AS1 AU 0.122404 0.123 Uncertain 1_41494222_G->T 1 41494222 41494222 G T snp 2047.77 0/1 99 220 128 92 0.42 ncRNA_exonic rs11578697 SLFNL1-AS1 AU 0.423922 0.5655 0.401738 0.4802 0.5438 Uncertain 1_41540853_A->T 1 41540853 41540853 A T snp 3627.77 1/1 99 130 0 130 1.0 intronic rs2011981 SCMH1 AU NM_001172222 exon7 c.47025-37A>T 0.909145 0.9504 0.838997 0.8335 0.9607 Uncertain 1_41540861_T->C 1 41540861 41540861 T C snp 4003.77 1/1 99 144 0 144 1.0 intronic rs2011982 SCMH1 AU NM_001172222 exon7 c.47025-29T>C 0.910942 0.9524 0.840228 0.8339 0.9614 Uncertain 1_41582831_C->A 1 41582831 41582831 C A snp 93.28 1/1 9 3 0 3 1.0 intronic rs148839315 SCMH1 AU NM_012236 exon9 c.88817+149C>A 0.0894569 0.12 Uncertain 1_41618442_A->T 1 41618442 41618442 A T snp 1564.77 1/1 99 58 0 58 1.0 intronic rs213768 SCMH1 AU NM_001031694 exon13 c.124548+29A>T 0.911142 0.9524 Uncertain 1_41848060_C->T 1 41848060 41848060 C T snp 813.77 0/1 99 62 28 34 0.55 exonic rs12092825 FOXO6 AU nonsynonymous SNV NM_001291281 exon3 c.C1186T p.P396S 0.6896 0.4444 0.03 T 0.0 P -1.245 T Pathogenic 1_41848296_G->A 1 41848296 41848296 G A snp 2252.77 0/1 99 234 125 109 0.47 exonic rs4359027 FOXO6 AU synonymous SNV NM_001291281 exon3 c.G1422A p.P474P 0.386781 0.3482 0.4437 0.3854 0 D 0.0 P -0.960 T Likely benign 1_41949595_G->A 1 41949595 41949595 G A snp 1572.77 1/1 99 45 0 45 1.0 intronic rs2759256 EDN2 AU NM_001302269 exon3 c.4638-122G>A 0.995208 1 Uncertain 1_41949628_A->C 1 41949628 41949628 A C snp 2609.77 1/1 99 91 0 91 1.0 intronic rs2759257 EDN2 AU NM_001302269 exon3 c.4638-89A>C 0.823283 0.9077 Uncertain 1_41950312_T->C 1 41950312 41950312 T C snp 2340.77 1/1 99 79 0 79 1.0 UTR5 rs2984691 EDN2 AU 0.896965 0.9494 0.922758 0.8836 0.9575 Uncertain 1_41976017_C->T 1 41976017 41976017 C T snp 989.77 1/1 72 35 0 35 1.0 UTR3 rs678110 HIVEP3 AU 0.627396 0.996 Uncertain 1_41976328_T->C 1 41976328 41976328 T C snp 900.77 1/1 66 26 0 26 1.0 exonic rs9439043 HIVEP3 AU nonsynonymous SNV NM_001127714 exon8 c.A7012G p.T2338A 0.963059 1 0.969067 0.9890 1 1 T 0.0 P -0.989 T 0.0 T 0.001 T Pathogenic 1_41978566_T->G 1 41978566 41978566 T G snp 1643.77 1/1 99 55 0 55 1.0 exonic rs2991344 HIVEP3 AU nonsynonymous SNV NM_001127714 exon7 c.A6326C p.D2109A 0.995403 0.9987 1 1 T 0.0 P -0.960 T 0.0 T 0.0 T Pathogenic 1_41978825_C->G 1 41978825 41978825 C G snp 5228.77 1/1 99 185 0 185 1.0 exonic rs2483689 HIVEP3 AU nonsynonymous SNV NM_001127714 exon7 c.G6067C p.A2023P 0.994209 1 0.994772 0.9986 1 1 T 0.0 P -0.947 T 0.0 T 0.0 T Pathogenic 1_41979156_A->G 1 41979156 41979156 A G snp 2320.77 1/1 99 77 0 77 1.0 exonic rs615177 HIVEP3 AU synonymous SNV NM_001127714 exon7 c.T5736C p.A1912A 0.734425 0.9931 0.621670 0.6687 0.9948 Uncertain 1_41983912_C->A 1 41983912 41983912 C A snp 508.77 1/1 39 15 0 15 1.0 intronic rs2810547 HIVEP3 AU NM_024503 exon3 c.7951-160C>A 0.946885 1 Uncertain 1_42046812_C->T 1 42046812 42046812 C T snp 1826.77 1/1 99 72 0 72 1.0 exonic rs2810565 HIVEP3 AU synonymous SNV NM_001127714 exon3 c.G3657A p.Q1219Q 0.977236 1 0.978933 0.9934 1 Uncertain 1_42047300_A->T 1 42047300 42047300 A T snp 2248.77 0/1 99 215 118 97 0.45 exonic rs41269473 HIVEP3 AU nonsynonymous SNV NM_001127714 exon3 c.T3169A p.S1057T 0.0375399 0.0367 0.025988 0.0453 0.0457 0.7 T 1 N -1.037 T 0.0 T 0.0 T Pathogenic 1_42048745_T->C 1 42048745 42048745 T C snp 4811.77 1/1 99 162 0 162 1.0 exonic rs2810566 HIVEP3 AU nonsynonymous SNV NM_001127714 exon3 c.A1724G p.H575R 0.988019 1 0.988851 0.9969 0.9998 1 T 0.000 P -1.012 T 0.0 T 0.0 T Pathogenic 1_42049032_G->A 1 42049032 42049032 G A snp 2732.77 1/1 99 91 0 91 1.0 exonic rs2984694 HIVEP3 AU synonymous SNV NM_001127714 exon3 c.C1437T p.S479S 0.949281 1 0.954944 0.9868 1 Uncertain 1_42049140_C->G 1 42049140 42049140 C G snp 4670.77 1/1 99 161 0 161 1.0 exonic rs2475842 HIVEP3 AU synonymous SNV NM_001127714 exon3 c.G1329C p.L443L 0.949281 1 0.955021 0.9868 1 Uncertain 1_42050366_C->T 1 42050366 42050366 C T snp 1158.77 0/1 99 112 63 49 0.44 exonic rs2146315 HIVEP3 AU nonsynonymous SNV NM_001127714 exon3 c.G103A p.V35I 0.309305 0.4345 0.254959 0.2722 0.4319 0.42 T 0.0 P -0.909 T 0.0 T 0.001 T Pathogenic 1_42619139_A->G 1 42619139 42619139 A G snp 794.77 0/1 99 68 32 36 0.53 exonic rs1047047 GUCA2B AU synonymous SNV NM_007102 exon1 c.A18G p.A6A 0.315495 0.4038 0.230586 0.2124 0.3851 Uncertain 1_42629040_A->G 1 42629040 42629040 A G snp 900.77 1/1 66 30 0 30 1.0 intronic rs2232224 GUCA2A AU NM_033553 exon2 c.497-33A>G 0.916933 1 0.916333 0.9766 1 Uncertain 1_42629346_G->A 1 42629346 42629346 G A snp 31.77 0/1 60 7 5 2 0.29 intronic rs2071500 GUCA2A AU NM_033553 exon2 c.705+65G>A 0.170327 0.3502 Uncertain 1_42630364_G->A 1 42630364 42630364 G A snp 662.77 0/1 99 57 28 29 0.51 exonic rs2071499 GUCA2A AU nonsynonymous SNV NM_033553 exon1 c.C20T p.S7F 0.384984 0.4028 0.450000 0.5157 0.4305 0.18 T 0.0 P -0.925 T 0.845 T 0.367 P Pathogenic 1_42647536_-->CA 1 42647536 42647536 - CA indel 251.73 0/1 99 12 4 8 0.67 intronic rs545263830 FOXJ3 AU NM_001198852 exon2 c.2207-51insCA Uncertain 1_42654308_C->T 1 42654308 42654308 C T snp 378.77 0/1 99 23 9 14 0.61 intronic rs565827632 FOXJ3 AU NM_001198852 exon3 c.9027-99C>T Uncertain 1_42693597_A->G 1 42693597 42693597 A G snp 5443.77 1/1 99 207 2 205 0.99 exonic rs343376 FOXJ3 AU nonsynonymous SNV NM_001198850 exon5 c.T485C p.V162A 0.795327 0.8482 0.782331 0.8034 0.8265 0.51 T 0.000 P -0.924 T 0.0 T 0.0 T Pathogenic 1_42846786_G->C 1 42846786 42846786 G C snp 436.77 0/1 99 54 33 21 0.39 intronic rs11210626 RIMKLA AU NM_173642 exon1 c.163+18G>C 0.525359 0.3403 0.672621 0.6898 0.3 Uncertain 1_42870338_C->T 1 42870338 42870338 C T snp 119.78 0/1 27 5 1 4 0.8 intronic rs1105670 RIMKLA AU NM_173642 exon3 c.23663+70C>T 0.153954 0.2252 Uncertain 1_42880516_T->C 1 42880516 42880516 T C snp 2319.77 0/1 99 155 61 94 0.61 exonic rs1055055 RIMKLA AU synonymous SNV NM_173642 exon5 c.T1047C p.S349S 0.489417 0.3433 0.602645 0.5800 0.3624 Uncertain 1_42898843_A->G 1 42898843 42898843 A G snp 5242.77 1/1 99 186 0 186 1.0 exonic rs1034268 ZMYND12 AU nonsynonymous SNV NM_001146192 exon6 c.T616C p.F206L 0.649361 0.6508 0.645933 0.6636 0.6646 1 T 0.000 P -0.916 T 0.0 T 0.0 T Pathogenic 1_42901082_A->C 1 42901082 42901082 A C snp 1211.77 0/1 99 116 65 51 0.44 intronic rs3748845 ZMYND12 AU NM_001146192 exon3 c.4650+26A>C 0.17472 0.2083 0.173151 0.1499 0.2455 Uncertain 1_42901173_C->T 1 42901173 42901173 C T snp 341.77 0/1 99 18 5 13 0.72 intronic rs4660634 ZMYND12 AU NM_001146192 exon3 c.4650+117C>T 0.173922 0.2083 Uncertain 1_42915727_C->G 1 42915727 42915727 C G snp 1731.77 0/1 99 173 96 77 0.45 exonic rs12047095 ZMYND12 AU synonymous SNV NM_032257 exon2 c.G114C p.G38G 0.283147 0.4355 0.194141 0.2358 0.4054 Uncertain 1_42915753_T->C 1 42915753 42915753 T C snp 4611.77 1/1 99 170 0 170 1.0 intronic rs11210647 ZMYND12 AU NM_001146192 exon6 c.19324+23T>C 0.46246 0.5992 0.384822 0.3961 0.6129 Uncertain 1_42925080_T->C 1 42925080 42925080 T C snp 436.77 1/1 33 11 0 11 1.0 intronic rs55861965 PPCS AU NM_001287508 exon3 c.2345-193T>C 0.467652 0.5992 Uncertain 1_42925688_T->G 1 42925688 42925688 T G snp 54.74 1/1 6 2 0 2 1.0 UTR3 rs9787162 PPCS AU 0.46865 0.5992 Uncertain 1_42948563_A->- 1 42948563 42948563 A - indel 408.73 0/1 99 62 18 44 0.71 intergenic rs202122677 PPCS AU 0.167532 0.1746 Uncertain 1_42948585_C->A 1 42948585 42948585 C A snp 791.9 0/1 15 29 2 27 0.93 intergenic rs6656344 PPCS AU 0.480232 0.5962 Uncertain 1_42956001_G->A 1 42956001 42956001 G A snp 184.77 0/1 99 17 9 8 0.47 intergenic rs72659920 PPCS AU 0.120807 0.1637 Uncertain 1_42956034_A->G 1 42956034 42956034 A G snp 116.77 0/1 99 9 4 5 0.56 intergenic rs72659921 PPCS AU 0.122005 0.1637 Uncertain 1_42962800_A->T 1 42962800 42962800 A T snp 2095.77 0/1 99 157 69 88 0.56 intergenic rs3748841 PPCS AU 0.128594 0.1637 Uncertain 1_42986956_T->C 1 42986956 42986956 T C snp 172.77 0/1 99 33 23 10 0.3 intergenic rs72659942 PPCS AU 0.128594 0.1637 0.1523 0.2121 Uncertain 1_43002347_A->G 1 43002347 43002347 A G snp 1818.77 0/1 99 103 39 64 0.62 intronic rs72659956 CCDC30 AU NM_001080850 exon2 c.117+75A>G 0.121605 0.1637 Uncertain 1_43002358_A->G 1 43002358 43002358 A G snp 1508.77 0/1 99 84 33 51 0.61 intronic rs72659958 CCDC30 AU NM_001080850 exon2 c.117+86A>G 0.128594 0.1637 Uncertain 1_43002744_G->A 1 43002744 43002744 G A snp 1766.77 1/1 99 57 0 57 1.0 intronic rs4660643 CCDC30 AU NM_001080850 exon2 c.117+472G>A 0.464856 0.5982 Uncertain 1_43011030_A->G 1 43011030 43011030 A G snp 34.77 0/1 63 7 5 2 0.29 intronic rs11210668 CCDC30 AU NM_001080850 exon4 c.8925-50A>G 0.300919 0.4554 0.204861 0.2325 0.4186 Uncertain 1_43011389_A->G 1 43011389 43011389 A G snp 139.03 1/1 12 4 0 4 1.0 intronic rs6661835 CCDC30 AU NM_001080850 exon4 c.9095+139A>G 0.480032 0.5992 Uncertain 1_43021810_C->T 1 43021810 43021810 C T snp 1423.77 1/1 99 53 0 53 1.0 intronic rs12038786 CCDC30 AU NM_001080850 exon5 c.19671-16C>T 0.459864 0.5992 0.375846 0.3952 0.6114 Uncertain 1_43023713_-->A 1 43023713 43023713 - A indel 644.73 0/1 99 50 22 28 0.56 intronic rs71798684 CCDC30 AU NM_001080850 exon5 c.19921+1637insA Uncertain 1_43030158_G->A 1 43030158 43030158 G A snp 56.74 1/1 6 2 0 2 1.0 intronic rs67724541 CCDC30 AU NM_001080850 exon6 c.29811-1808G>A 0.464457 0.5992 Uncertain 1_43042703_C->T 1 43042703 43042703 C T snp 1952.77 0/1 99 175 95 80 0.46 exonic rs12049046 CCDC30 AU synonymous SNV NM_001080850 exon7 c.C868T p.L290L 0.285543 0.4563 0.193372 0.2373 0.4208 Uncertain 1_43047057_A->G 1 43047057 43047057 A G snp 446.77 0/1 99 49 26 23 0.47 exonic rs12037518 CCDC30 AU synonymous SNV NM_001080850 exon8 c.A1092G p.E364E 0.278954 0.4395 0.192219 0.2318 0.3996 Uncertain 1_43054909_T->C 1 43054909 43054909 T C snp 73.77 0/1 98 6 3 3 0.5 intronic rs7527588 CCDC30 AU NM_001080850 exon9 c.52836-82T>C 0.304513 0.4474 Uncertain 1_43055243_C->G 1 43055243 43055243 C G snp 506.77 1/1 39 13 0 13 1.0 intronic rs10789417 CCDC30 AU NM_001080850 exon9 c.52999+89C>G 0.665136 0.5933 Uncertain 1_43076556_TT->- 1 43076556 43076557 TT - indel 145.25 0/1 9 8 1 7 0.88 intronic rs201279077 CCDC30 AU NM_001080850 exon10 c.74493-92_74493-91delTT 0.171526 0.125 Uncertain 1_43108188_G->A 1 43108188 43108188 G A snp 2650.77 0/1 99 231 117 114 0.49 exonic rs12036818 CCDC30 AU synonymous SNV NM_001080850 exon12 c.G1683A p.L561L 0.144768 0.3105 0.084576 0.1209 0.2866 Uncertain 1_43110276_G->A 1 43110276 43110276 G A snp 736.77 1/1 54 24 0 24 1.0 intronic rs7523056 CCDC30 AU NM_001080850 exon13 c.108208-87G>A 0.669129 0.6438 Uncertain 1_43111741_G->A 1 43111741 43111741 G A snp 213.77 0/1 99 14 7 7 0.5 intronic rs16829824 CCDC30 AU NM_001080850 exon14 c.109650-64G>A 0.144968 0.3095 Uncertain 1_43124220_G->A 1 43124220 43124220 G A snp 1719.77 0/1 99 169 90 79 0.47 intronic rs3820545 PPIH AU NM_006347 exon1 c.66+37G>A 0.144968 0.3095 0.084346 0.1216 0.2872 Uncertain 1_43124701_A->G 1 43124701 43124701 A G snp 3715.77 1/1 99 120 1 119 0.99 intronic rs6600419 PPIH AU NM_006347 exon2 c.462+122A>G 0.601038 0.6458 Uncertain 1_43124859_C->T 1 43124859 43124859 C T snp 5918.77 1/1 99 207 0 207 1.0 intronic rs3738494 PPIH AU NM_006347 exon3 c.781-39C>T 0.636781 0.6458 0.614332 0.6196 0.6563 Uncertain 1_43131653_G->A 1 43131653 43131653 G A snp 1578.77 0/1 99 142 71 71 0.5 exonic rs12244 PPIH AU synonymous SNV NM_006347 exon7 c.G339A p.A113A 0.150359 0.3185 0.094495 0.1265 0.2796 Uncertain 1_43132393_-->A 1 43132393 43132393 - A indel 903.73 0/1 99 64 34 30 0.47 intronic rs35844708 PPIH AU NM_006347 exon8 c.8141+135insA 0.429513 0.3224 Uncertain 1_43200526_T->C 1 43200526 43200526 T C snp 50.74 1/1 6 2 0 2 1.0 UTR3 rs912075 CLDN19 AR 0.606829 0.6677 Uncertain 1_43212427_G->C 1 43212427 43212427 G C snp 691.77 0/1 99 77 46 31 0.4 exonic rs533729683 P3H1 AR nonsynonymous SNV NM_022356 exon15 c.C2152G p.P718A 0.00259585 0.0119 0.0008 0.0193 0.19 T 1 N -1.026 T 0.104 T 0.014 T Pathogenic 1_43212431_A->G 1 43212431 43212431 A G snp 2273.77 1/1 99 80 0 80 1.0 exonic rs4660662 P3H1 AR synonymous SNV NM_022356 exon15 c.T2148C p.G716G 1 1 1.0000 1 Uncertain 1_43213499_C->T 1 43213499 43213499 C T snp 325.77 0/1 99 42 27 15 0.36 intronic rs3738499 P3H1 AR NM_001146289 exon3 c.966+30C>T 0.554113 0.6677 0.517377 0.5969 0.6697 Uncertain 1_43213610_T->C 1 43213610 43213610 T C snp 96.28 1/1 9 3 0 3 1.0 intronic rs7552138 P3H1 AR NM_001146289 exon3 c.966+141T>C 0.751997 0.7093 Uncertain 1_43217415_T->A 1 43217415 43217415 T A snp 188.77 0/1 99 15 6 9 0.6 intronic rs146703749 P3H1 AR NM_001146289 exon6 c.5441-529T>A 0.023762 0.0992 0.0047 0.1 1.000 N -1.064 T Uncertain 1_43227867_G->A 1 43227867 43227867 G A snp 114.78 0/1 27 5 1 4 0.8 intronic rs2760070 P3H1 AR NM_001146289 exon14 c.15490-126G>A 0.717452 0.7083 Uncertain 1_43228189_T->A 1 43228189 43228189 T A snp 1399.77 1/1 99 53 0 53 1.0 intronic rs2816593 P3H1 AR NM_001146289 exon14 c.15643+43T>A 0.99361 1 0.988544 0.9857 1 Uncertain 1_43232877_A->T 1 43232877 43232877 A T snp 56.74 1/1 6 2 0 2 1.0 upstream rs3738505 C1orf50 AU 0.285942 0.4415 Uncertain 1_43239395_G->A 1 43239395 43239395 G A snp 736.77 0/1 99 69 41 28 0.41 intronic rs2760075 C1orf50 AU NM_024097 exon3 c.6338+75G>A 0.71226 0.7073 Uncertain 1_43296118_G->A 1 43296118 43296118 G A snp 1474.77 0/1 99 120 60 60 0.5 UTR5 rs12124733 ERMAP AU 0.335064 0.4435 0.269875 0.2417 0.3972 Uncertain 1_43296354_G->T 1 43296354 43296354 G T snp 684.77 0/1 99 53 28 25 0.47 intronic rs12727498 ERMAP AU NM_018538 exon3 c.319-84G>T Uncertain 1_43300663_T->C 1 43300663 43300663 T C snp 140.77 0/1 99 15 10 5 0.33 intronic rs4660672 ERMAP AU NM_018538 exon4 c.4589-45T>C 0.582468 0.3601 0.666077 0.6670 0.3756 Uncertain 1_43300921_C->G 1 43300921 43300921 C G snp 407.77 0/1 99 40 20 20 0.5 intronic rs4660673 ERMAP AU NM_018538 exon4 c.4706+96C>G 0.747604 0.5843 Uncertain 1_43305753_G->A 1 43305753 43305753 G A snp 2541.77 0/1 99 228 123 105 0.46 intronic rs12034000 ERMAP AU NM_018538 exon8 c.9605+29G>A 0.260383 0.3393 0.226126 0.2370 0.3154 Uncertain 1_43315531_T->C 1 43315531 43315531 T C snp 167.77 0/1 99 28 21 7 0.25 intronic rs56653907 ZNF691 AU NM_001242739 exon3 c.84+118T>C 0.261382 0.3452 Uncertain 1_43392250_C->G 1 43392250 43392250 C G snp 689.77 0/1 99 54 25 29 0.54 UTR3 rs4658 SLC2A1 AR,AD,AU 0.383387 0.3085 Uncertain 1_43393245_-->GGTGAGAAAT 1 43393245 43393245 - GGTGAGAAAT indel 1865.73 1/1 45 15 0 15 1.0 intronic rs11282849 SLC2A1 AR,AD,AU NM_006516 exon2 c.564-30insGGTGAGAAAT 0.617412 0.4752 0.555493 0.5171 0.4712 Uncertain 1_43394509_G->- 1 43394509 43394509 G - indel 2150.73 0/1 99 140 77 63 0.45 intronic SLC2A1 AR,AD,AU NM_006516 exon3 c.1891-93delG Uncertain 1_43418026_C->T 1 43418026 43418026 C T snp 2526.77 1/1 99 89 0 89 1.0 intronic rs2297972 SLC2A1 AR,AD,AU NM_006516 exon10 c.31593-6278C>T 0.580671 0.6379 0.642857 0.7169 0.6859 Uncertain 1_43610910_T->G 1 43610910 43610910 T G snp 675.77 0/1 99 67 35 32 0.48 intergenic rs626842 SLC2A1-AS1 AU 0.524361 0.3274 0.4739 0.3238 Uncertain 1_43613808_A->G 1 43613808 43613808 A G snp 1149.77 0/1 99 93 47 46 0.49 intronic rs60192064 FAM183A AU NM_001101376 exon1 c.133+53A>G 0.185903 0.3194 0.1136 0.2786 Uncertain 1_43618726_A->G 1 43618726 43618726 A G snp 571.77 0/1 99 40 17 23 0.57 intronic rs2453416 FAM183A AU NM_001101376 exon3 c.4980+124A>G 0.358626 0.3264 Uncertain 1_43621759_G->T 1 43621759 43621759 G T snp 797.77 0/1 99 72 40 32 0.44 intronic rs589819 FAM183A AU NM_001101376 exon4 c.8254-117G>T 0.263978 0.3165 Uncertain 1_43632353_C->G 1 43632353 43632353 C G snp 196.77 0/1 63 9 3 6 0.67 intronic rs1749436 EBNA1BP2 AU NM_001159936 exon3 c.2383-143C>G 0.526358 0.3254 Uncertain 1_43632354_A->C 1 43632354 43632354 A C snp 190.77 0/1 60 9 3 6 0.67 intronic rs1749437 EBNA1BP2 AU NM_001159936 exon3 c.2383-142A>C 0.526358 0.3254 Uncertain 1_43647035_A->G 1 43647035 43647035 A G snp 43.77 0/1 64 4 2 2 0.5 intronic rs616045 CFAP57 AU NM_001195831 exon3 c.8780-169A>G 0.263978 0.3185 Uncertain 1_43649336_T->C 1 43649336 43649336 T C snp 1274.77 0/1 99 104 44 60 0.58 exonic rs75528102 CFAP57 AU synonymous SNV NM_152498 exon4 c.T549C p.A183A 0.127796 0.3175 0.039213 0.0994 0.2773 Uncertain 1_43649393_T->C 1 43649393 43649393 T C snp 869.77 0/1 99 82 45 37 0.45 exonic rs663336 CFAP57 AU synonymous SNV NM_152498 exon4 c.T606C p.A202A 0.263978 0.3185 0.174765 0.1608 0.2771 Uncertain 1_43649508_A->G 1 43649508 43649508 A G snp 135.77 0/1 99 55 46 9 0.16 exonic rs663824 CFAP57 AU nonsynonymous SNV NM_152498 exon4 c.A721G p.N241D 0.520168 0.3194 0.517838 0.4499 0.2788 0.64 T 0.0 P -1.047 T 0.0 T 0.001 T Pathogenic 1_43650741_T->C 1 43650741 43650741 T C snp 597.77 0/1 99 55 29 26 0.47 intronic rs598336 CFAP57 AU NM_001195831 exon5 c.12395-78T>C 0.473043 0.3204 Uncertain 1_43652222_C->T 1 43652222 43652222 C T snp 120.03 1/1 12 7 1 6 0.86 intronic rs1976285 CFAP57 AU NM_001195831 exon6 c.13953-155C>T 0.255791 0.3185 Uncertain 1_43652282_AAAAAAA->- 1 43652282 43652288 AAAAAAA - indel 688.73 0/1 99 21 6 15 0.71 intronic rs575256375 CFAP57 AU NM_001195831 exon6 c.13953-95_13953-89delAAAAAAA 0.707069 0.9216 Uncertain 1_43652369_T->C 1 43652369 43652369 T C snp 3613.77 1/1 99 126 0 126 1.0 intronic rs6413971 CFAP57 AU NM_001195831 exon6 c.13953-8T>C 0.996805 1 0.996617 0.9992 1 Uncertain 1_43652442_G->C 1 43652442 43652442 G C snp 1984.77 0/1 99 151 63 88 0.58 exonic rs11210805 CFAP57 AU nonsynonymous SNV NM_152498 exon6 c.G1034C p.C345S 0.128395 0.3175 0.039290 0.0995 0.2789 0.45 T 1.000 P -0.837 T 0.42 T 0.312 T Pathogenic 1_43663376_A->G 1 43663376 43663376 A G snp 1115.77 0/1 99 92 42 50 0.54 intronic rs513009 CFAP57 AU NM_001195831 exon7 c.24939+13A>G 0.71885 0.6806 0.806089 0.8344 0.7218 Uncertain 1_43672636_T->G 1 43672636 43672636 T G snp 415.77 0/1 99 24 10 14 0.58 intronic rs11210812 CFAP57 AU NM_001195831 exon10 c.34179+33T>G 0.474241 0.6835 0.436817 0.5364 0.7239 Uncertain 1_43675467_G->A 1 43675467 43675467 G A snp 1671.77 0/1 99 144 78 66 0.46 exonic rs2453412 CFAP57 AU synonymous SNV NM_152498 exon11 c.G1809A p.S603S 0.694888 0.6786 0.773566 0.7914 0.7230 Uncertain 1_43680855_G->A 1 43680855 43680855 G A snp 694.77 1/1 51 24 0 24 1.0 intergenic rs4233492 CFAP57 AU 0.992212 1 Uncertain 1_43681184_C->T 1 43681184 43681184 C T snp 181.77 0/1 99 19 11 8 0.42 intergenic rs612626 CFAP57 AU 0.695288 0.6776 Uncertain 1_43697968_G->A 1 43697968 43697968 G A snp 724.77 0/1 99 41 17 24 0.59 intergenic rs3120045 CFAP57 AU 0.467452 0.5863 Uncertain 1_43699813_A->G 1 43699813 43699813 A G snp 211.84 1/1 18 9 0 9 1.0 intergenic rs3820588 CFAP57 AU 0.785743 0.8948 Uncertain 1_43699935_C->T 1 43699935 43699935 C T snp 2963.77 1/1 99 116 3 113 0.97 intergenic rs2477561 CFAP57 AU 0.994609 1 0.9992 1 Uncertain 1_43699970_G->A 1 43699970 43699970 G A snp 1544.77 0/1 99 147 77 70 0.48 intergenic rs2484714 CFAP57 AU 0.121406 0.2173 0.1032 0.2137 Uncertain 1_43700140_A->G 1 43700140 43700140 A G snp 5850.77 1/1 99 219 0 219 1.0 intergenic rs2483688 CFAP57 AU 0.796326 0.9177 0.8312 0.9488 Uncertain 1_43719778_G->A 1 43719778 43719778 G A snp 586.77 0/1 99 45 21 24 0.53 intergenic rs41269537 CFAP57 AU 0.0127796 0.0546 0.0057 0.0533 Uncertain 1_43738340_A->C 1 43738340 43738340 A C snp 62.77 0/1 91 18 15 3 0.17 UTR5 rs10890247 TMEM125 AU 0.60004 0.4415 Uncertain 1_43770518_C->G 1 43770518 43770518 C G snp 193.77 0/1 99 16 6 10 0.63 splicing rs12022684 TIE1 AU NM_005424 exon2 c.3779-3C>G 0.0469249 0.1548 0.0305 0.1739 Pathogenic 1_43771017_A->- 1 43771017 43771017 A - indel 6248.73 1/1 99 163 0 163 1.0 splicing rs3831248 TIE1 AU NM_005424 exon3 c.4272+3delA 0.762181 0.8631 0.656045 0.7044 0.8786 Pathogenic 1_43771090_G->A 1 43771090 43771090 G A snp 2127.77 1/1 99 70 0 70 1.0 intronic rs3120044 TIE1 AU NM_005424 exon3 c.4272+76G>A 0.776558 0.8631 Uncertain 1_43773033_A->G 1 43773033 43773033 A G snp 2779.77 1/1 99 89 0 89 1.0 intronic rs2275180 TIE1 AU NM_005424 exon6 c.6360-69A>G 0.80651 0.87 Uncertain 1_43774437_G->A 1 43774437 43774437 G A snp 180.9 1/1 15 5 0 5 1.0 intronic rs1467809 TIE1 AU NM_005424 exon8 c.7914-219G>A 0.775559 0.8433 Uncertain 1_43774495_G->C 1 43774495 43774495 G C snp 211.77 0/1 99 32 23 9 0.28 intronic rs2282225 TIE1 AU NM_005424 exon8 c.7914-161G>C 0.586062 0.6835 0.5659 0.7080 Uncertain 1_43777852_C->T 1 43777852 43777852 C T snp 1390.77 0/1 99 94 44 50 0.53 intronic rs1999595 TIE1 AU NM_005424 exon11 c.11060+50C>T 0.810503 0.8373 0.815308 0.8400 0.8466 Uncertain 1_43779564_T->C 1 43779564 43779564 T C snp 4015.77 1/1 99 150 0 150 1.0 exonic rs3120276 TIE1 AU synonymous SNV NM_001253357 exon14 c.T2199C p.A733A 0.803115 0.879 0.692603 0.6994 0.8860 Uncertain 1_43779869_T->G 1 43779869 43779869 T G snp 646.77 1/1 48 20 0 20 1.0 intronic rs2991990 TIE1 AU NM_005424 exon14 c.12897+230T>G 0.790535 0.8591 Uncertain 1_43782846_G->A 1 43782846 43782846 G A snp 1459.77 1/1 99 46 0 46 1.0 intronic rs1198982 TIE1 AU NM_005424 exon15 c.16127-23G>A 0.80012 0.872 0.691066 0.6981 0.8749 Uncertain 1_43787437_A->G 1 43787437 43787437 A G snp 186.77 0/1 99 24 17 7 0.29 intronic rs11210834 TIE1 AU NM_005424 exon22 c.20644+51A>G 0.264776 0.3958 0.194387 0.2545 0.4162 Uncertain 1_43788172_T->C 1 43788172 43788172 T C snp 34.77 0/1 63 5 3 2 0.4 intronic rs839997 TIE1 AU NM_005424 exon23 c.21579-149T>C 0.594249 0.5208 Uncertain 1_43826312_C->A 1 43826312 43826312 C A snp 3527.77 0/1 99 250 115 135 0.54 intronic rs710251 CDC20 AU NM_001255 exon7 c.1378+48C>A 0.596046 0.5208 0.664386 0.6218 0.5474 Uncertain 1_43855578_G->C 1 43855578 43855578 G C snp 2770.77 0/1 99 188 80 108 0.57 UTR5 rs839753 SZT2 AR 0.596645 0.5089 0.660534 Uncertain 1_43907092_G->A 1 43907092 43907092 G A snp 1659.77 0/1 99 119 47 72 0.61 intronic rs12407785 SZT2 AR NM_015284 exon52 c.51412+41G>A 0.209665 0.3859 0.147778 0.2204 0.4132 Uncertain 1_43908274_C->T 1 43908274 43908274 C T snp 743.77 0/1 99 71 40 31 0.44 exonic rs2275098 SZT2 AR synonymous SNV NM_015284 exon57 c.C7965T p.P2655P 0.0081869 0.0387 0.000077 0.0035 0.0442 Uncertain 1_43916642_T->C 1 43916642 43916642 T C snp 3143.77 0/1 99 225 90 135 0.6 UTR3 rs6954 SZT2 AR 0.584864 0.5069 0.637251 0.5867 0.5342 Uncertain 1_43919413_A->G 1 43919413 43919413 A G snp 389.77 0/1 99 41 20 21 0.51 exonic rs6692611 HYI AU nonsynonymous SNV NM_001190880 exon1 c.T52C p.S18P 0.595847 0.5089 0.7182 0.6465 1.000 P -1.003 T 0.0 T 0.001 T Pathogenic 1_43998398_T->- 1 43998398 43998398 T - indel 1195.73 1/1 99 40 0 40 1.0 intronic rs11350891 PTPRF AR 0.984824 1 Uncertain 1_44019731_C->T 1 44019731 44019731 C T snp 206.84 1/1 18 6 0 6 1.0 intronic rs2842185 PTPRF AR NM_002840 exon5 c.8866+119C>T 0.813898 0.8254 Uncertain 1_44057950_T->C 1 44057950 44057950 T C snp 46.77 0/1 33 3 1 2 0.67 intronic rs573350 PTPRF AR NM_002840 exon11 c.47381-177T>C 0.650958 0.7698 Uncertain 1_44058265_C->A 1 44058265 44058265 C A snp 1513.77 0/1 99 144 81 63 0.44 exonic rs3828151 PTPRF AR synonymous SNV NM_002840 exon11 c.C1806A p.A602A 0.446486 0.5585 0.421728 0.4199 0.5746 1.0 P -0.896 T Likely benign 1_44064319_A->G 1 44064319 44064319 A G snp 1516.77 0/1 99 126 67 59 0.47 intronic rs17849103 PTPRF AR NM_002840 exon13 c.53644-71A>G 0.394768 0.5595 Uncertain 1_44067859_A->G 1 44067859 44067859 A G snp 2674.77 0/1 99 226 111 115 0.51 intronic rs12023161 PTPRF AR NM_002840 exon14 c.57022+91A>G 0.394968 0.5595 Uncertain 1_44071221_G->A 1 44071221 44071221 G A snp 1509.77 0/1 99 130 63 67 0.52 exonic rs631248 PTPRF AR synonymous SNV NM_002840 exon19 c.G3411A p.V1137V 0.602436 0.7579 0.668999 0.6949 0.7793 1.000 P -1.004 T Likely benign 1_44071853_T->C 1 44071853 44071853 T C snp 304.78 1/1 24 8 0 8 1.0 intronic rs512579 PTPRF AR NM_002840 exon20 c.61164-57T>C 0.764177 0.7341 Uncertain 1_44072420_A->G 1 44072420 44072420 A G snp 1193.77 0/1 99 94 47 47 0.5 intronic rs539096 PTPRF AR NM_002840 exon21 c.61738-64A>G 0.723043 0.7718 Uncertain 1_44075227_T->C 1 44075227 44075227 T C snp 2583.77 1/1 99 72 0 72 1.0 intronic rs517622 PTPRF AR NM_002840 exon22 c.64423+58T>C 0.985224 1 Uncertain 1_44078604_A->G 1 44078604 44078604 A G snp 1096.77 0/1 99 98 53 45 0.46 intronic rs10890267 PTPRF AR NM_002840 exon23 c.68542-684A>G 0.140176 0.0794 Uncertain 1_44083110_C->T 1 44083110 44083110 C T snp 1441.77 0/1 99 98 47 51 0.52 splicing rs571862 PTPRF AR NM_002840 exon24 c.72369-5C>T 0.73742 0.7649 0.805167 0.7191 0.7871 Pathogenic 1_44083507_T->C 1 44083507 44083507 T C snp 2152.77 0/1 99 205 114 91 0.44 exonic rs641365 PTPRF AR synonymous SNV NM_002840 exon25 c.T4296C p.G1432G 0.73722 0.7649 0.805167 0.7188 0.7858 1.000 P -1.096 T Likely benign 1_44083519_G->A 1 44083519 44083519 G A snp 1972.77 0/1 99 188 102 86 0.46 exonic rs641351 PTPRF AR synonymous SNV NM_002840 exon25 c.G4308A p.R1436R 0.73722 0.7649 0.805090 0.7185 0.7853 1.0 P -1.040 T Likely benign 1_44084620_G->T 1 44084620 44084620 G T snp 725.77 0/1 99 61 34 27 0.44 intronic rs16831024 PTPRF AR NM_002840 exon27 c.73972-98G>T 0.141174 0.0794 Uncertain 1_44084739_C->T 1 44084739 44084739 C T snp 1526.77 0/1 99 189 122 67 0.35 exonic rs1143701 PTPRF AR synonymous SNV NM_002840 exon27 c.C4512T p.R1504R 0.73742 0.7649 0.805090 0.7192 0.7866 1 T 1.0 P -0.958 T Likely benign 1_44086080_T->C 1 44086080 44086080 T C snp 1789.77 0/1 99 166 89 77 0.46 intronic rs568639 PTPRF AR NM_002840 exon31 c.75378-44T>C 0.73762 0.7649 0.805906 0.7227 0.7863 Uncertain 1_44087496_C->T 1 44087496 44087496 C T snp 1745.77 0/1 99 139 68 71 0.51 intronic rs673485 PTPRF AR NM_002840 exon34 c.76859-109C>T 0.742812 0.7659 Uncertain 1_44087541_T->C 1 44087541 44087541 T C snp 2788.77 0/1 99 216 101 115 0.53 intronic rs184879510 PTPRF AR NM_002840 exon34 c.76859-64T>C 0.000798722 0.004 Uncertain 1_44125963_A->- 1 44125963 44125963 A - indel 1061.73 0/1 99 95 59 36 0.38 splicing rs3215843 KDM4A AU NM_014663 exon4 c.7122-5delA 0.547724 0.5278 0.4373 0.5372 Pathogenic 1_44132744_C->T 1 44132744 44132744 C T snp 2194.77 0/1 99 208 109 99 0.48 exonic rs78418435 KDM4A AU synonymous SNV NM_014663 exon8 c.C897T p.Y299Y 0.0209665 0.0635 0.010534 0.0081 0.0637 Uncertain 1_44137257_C->A 1 44137257 44137257 C A snp 1453.77 0/1 99 151 86 65 0.43 exonic rs586339 KDM4A AU nonsynonymous SNV NM_014663 exon11 c.C1445A p.A482E 0.740216 0.7946 0.794326 0.7111 0.8116 1 T 0.000 P -0.969 T 0.0 T 0.0 T Pathogenic 1_44280381_A->T 1 44280381 44280381 A T snp 1324.77 1/1 96 44 0 44 1.0 intronic rs37468 ST3GAL3 AR NM_001270463 exon3 c.78629-181A>T 0.885982 0.9147 Uncertain 1_44290530_A->G 1 44290530 44290530 A G snp 1942.77 0/1 99 213 122 91 0.43 intronic rs37458 ST3GAL3 AR NM_174971 exon4 c.88631-34A>G 0.236422 0.1429 0.335288 0.3476 0.1938 0.79 T 0.0 P -0.958 T 0.0 T 0.0 T CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000118418.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 1_44323736_T->C 1 44323736 44323736 T C snp 1535.77 1/1 99 58 0 58 1.0 intronic rs2906465 ST3GAL3 AR NM_001270463 exon4 c.102050+19753T>C 0.885783 0.9077 Uncertain 1_44344796_T->C 1 44344796 44344796 T C snp 744.77 0/1 99 73 45 28 0.38 intronic rs2527777 ST3GAL3 AR NM_001270463 exon5 c.158121-15258T>C 0.234225 0.1786 Uncertain 1_44365457_A->G 1 44365457 44365457 A G snp 331.77 0/1 99 35 20 15 0.43 intronic rs783304 ST3GAL3 AR NM_001270459 exon9 c.163466+58A>G 0.280351 0.2252 Uncertain 1_44365529_G->A 1 44365529 44365529 G A snp 61.77 0/1 90 8 5 3 0.38 intronic rs783303 ST3GAL3 AR NM_001270459 exon9 c.163466+130G>A 0.767372 0.8224 Uncertain 1_44386305_C->T 1 44386305 44386305 C T snp 451.77 0/1 99 18 5 13 0.72 intronic rs3120802 ST3GAL3 AR NM_001270459 exon10 c.184289+83C>T 0.7498 0.8304 Uncertain 1_44386615_A->G 1 44386615 44386615 A G snp 858.77 0/1 99 103 68 35 0.34 intronic rs3120803 ST3GAL3 AR NM_001270459 exon11 c.184667+15A>G 0.809105 0.8363 0.850431 0.8813 0.8484 Uncertain 1_44386642_G->C 1 44386642 44386642 G C snp 338.77 0/1 99 62 45 17 0.27 intronic rs3764833 ST3GAL3 AR NM_001270459 exon11 c.184667+42G>C 0.0686901 0.1349 0.052196 0.0673 0.1755 Uncertain 1_44401225_T->C 1 44401225 44401225 T C snp 1181.77 0/1 99 71 27 44 0.62 intronic rs113785268 ARTN AU 0.0748802 0.1359 Uncertain 1_44401384_A->G 1 44401384 44401384 A G snp 2800.77 0/1 99 250 132 118 0.47 exonic rs2242637 ARTN AU nonsynonymous SNV NM_001136215 exon2 c.A56G p.Q19R 0.836861 0.8254 0.872136 0.8848 0.8358 0.98 T 0.0 P -0.963 T 0.0 T 0.001 T Pathogenic 1_44401966_C->T 1 44401966 44401966 C T snp 88.77 0/1 33 7 2 5 0.71 intronic rs115571163 ARTN AU NM_057091 exon5 c.645-7C>T 0.057508 0.125 0.1222 0.5 Uncertain 1_44415424_A->G 1 44415424 44415424 A G snp 3452.77 0/1 99 250 122 128 0.51 exonic rs41270385 IPO13 AU synonymous SNV NM_014652 exon2 c.A420G p.P140P 0.0517173 0.1181 0.026834 0.0452 0.1135 Uncertain 1_44426823_C->T 1 44426823 44426823 C T snp 2660.77 0/1 99 250 131 119 0.48 intronic rs2301992 IPO13 AU NM_014652 exon14 c.13565-14C>T 0.102636 0.1181 0.080655 0.0652 0.1123 Uncertain 1_44426948_G->A 1 44426948 44426948 G A snp 2019.77 0/1 99 171 88 83 0.49 intronic rs2906596 IPO13 AU NM_014652 exon14 c.13662+14G>A 0.821685 0.8284 0.860372 0.8877 0.8450 Uncertain 1_44432732_C->T 1 44432732 44432732 C T snp 563.77 0/1 99 48 25 23 0.48 intronic rs147777752 IPO13 AU NM_014652 exon18 c.19419+41C>T 0.00199681 0.0089 0.0008 0.0096 Uncertain 1_44440769_G->C 1 44440769 44440769 G C snp 1077.77 0/1 99 80 34 46 0.57 exonic rs2286241 ATP6V0B AU synonymous SNV NM_004047 exon1 c.G57C p.A19A 0.0802716 0.1786 0.044178 0.1086 0.2660 Uncertain 1_44441533_A->G 1 44441533 44441533 A G snp 1345.77 0/1 99 99 43 56 0.57 intronic rs2286243 ATP6V0B AU NM_004047 exon2 c.808+13A>G 0.0916534 0.1786 0.065893 0.0695 0.1696 Uncertain 1_44442521_A->C 1 44442521 44442521 A C snp 414.77 0/1 99 41 24 17 0.41 intronic rs12410334 ATP6V0B AU NM_004047 exon6 c.1784+25A>C 0.559305 0.7361 0.618484 0.7159 0.7520 Uncertain 1_44445667_T->C 1 44445667 44445667 T C snp 1072.77 0/1 99 109 64 45 0.41 UTR5 rs3762423 B4GALT2 AU 0.122404 0.1786 0.0826 0.1505 Uncertain 1_44447413_G->C 1 44447413 44447413 G C snp 3176.77 0/1 99 250 139 111 0.44 exonic rs1859728 B4GALT2 AU nonsynonymous SNV NM_001005417 exon3 c.G366C p.Q122H 0.0796725 0.1786 0.054744 0.0651 0.1691 0.18 T 1.000 P -1.111 T 0.998 D 0.975 D Pathogenic 1_44451234_C->T 1 44451234 44451234 C T snp 2422.77 0/1 99 220 106 114 0.52 exonic rs1061781 B4GALT2 AU synonymous SNV NM_001005417 exon6 c.C909T p.I303I 0.0934505 0.1528 0.089036 0.0935 0.1265 Uncertain 1_44455871_T->C 1 44455871 44455871 T C snp 2168.77 1/1 99 74 0 74 1.0 intronic rs2231284 B4GALT2 AU NM_030587 exon7 c.10286-98T>C 0.286142 0.2867 Uncertain 1_44457739_-->C 1 44457739 44457739 - C indel 1150.73 1/1 84 28 0 28 1.0 intronic rs11376967 CCDC24 AU NM_152499 exon2 c.126+63insC 1 1 1.0000 1 Uncertain 1_44461822_C->T 1 44461822 44461822 C T snp 1980.77 0/1 99 145 60 85 0.59 exonic rs2301983 CCDC24 AU nonsynonymous SNV NM_152499 exon9 c.C914T p.A305V 0.0567093 0.1141 0.033431 0.0671 0.1472 0 D 0.992 N -1.173 T 0.987 D 0.662 D Pathogenic 1_44463170_G->A 1 44463170 44463170 G A snp 370.77 0/1 99 39 25 14 0.36 UTR3 rs2248253 SLC6A9 AU 0.15655 0.1548 0.114030 0.1064 0.1456 Uncertain 1_44463204_C->T 1 44463204 44463204 C T snp 1048.77 0/1 99 78 35 43 0.55 UTR3 rs2286245 SLC6A9 AU 0.0591054 0.1131 0.032523 0.0495 0.1146 Uncertain 1_44466606_G->A 1 44466606 44466606 G A snp 2476.77 0/1 99 246 130 116 0.47 intronic rs2248632 SLC6A9 AU NM_006934 exon4 c.3411-21G>A 0.166933 0.1677 0.123020 0.1123 0.1560 0.000 P -1.086 T 0.0 T 0.0 T Uncertain 1_44468235_G->A 1 44468235 44468235 G A snp 2044.77 0/1 99 202 115 87 0.43 exonic rs2248829 SLC6A9 AU synonymous SNV NM_001261380 exon6 c.C819T p.D273D 0.173722 0.1667 0.132554 0.1127 0.1565 Uncertain 1_44475586_G->A 1 44475586 44475586 G A snp 461.77 0/1 99 39 22 17 0.44 intronic rs1766967 SLC6A9 AU NM_006934 exon11 c.12420-50G>A 0.154952 0.1746 0.111871 0.1084 0.1639 Uncertain 1_44595047_T->A 1 44595047 44595047 T A snp 3017.77 0/1 99 250 132 118 0.47 exonic rs11210969 KLF17 AU nonsynonymous SNV NM_173484 exon2 c.T104A p.I35N 0.217452 0.2044 0.242503 0.2729 0.1964 0.06 T 0.0 P -0.925 T 0.868 T 0.4 P Pathogenic 1_44595113_G->C 1 44595113 44595113 G C snp 3139.77 0/1 99 250 123 127 0.51 exonic rs2429051 KLF17 AU nonsynonymous SNV NM_173484 exon2 c.G170C p.S57T 0.496406 0.628 0.539828 0.6088 0.6680 0.4 T 0.0 P -0.990 T 0.183 T 0.053 T Pathogenic 1_44596380_CAA->- 1 44596380 44596382 CAA - indel 5658.73 0/1 99 247 121 126 0.51 exonic rs200059598 KLF17 AU nonframeshift deletion NM_173484 exon3 c.1122_1124del p.374_375del 0.230232 0.2887 0.161636 0.2178 0.2505 Uncertain 1_44679556_A->G 1 44679556 44679556 A G snp 3548.77 1/1 99 139 1 138 0.99 intronic rs803369 DMAP1 AU NM_001034023 exon2 c.105+26A>G 0.714856 0.5139 0.707261 0.7011 0.5446 Uncertain 1_44680719_G->C 1 44680719 44680719 G C snp 2826.77 0/1 99 231 116 115 0.5 intronic rs4660780 DMAP1 AU NM_001034023 exon4 c.1145+149G>C 0.216254 0.2341 0.3143 0.2882 Uncertain 1_44681113_T->C 1 44681113 44681113 T C snp 386.77 0/1 99 24 12 12 0.5 intronic rs1291169 DMAP1 AU NM_001034023 exon4 c.1145+543T>C 0.301917 0.2123 Uncertain 1_44684995_T->C 1 44684995 44684995 T C snp 889.77 0/1 99 80 43 37 0.46 intronic rs2799480 DMAP1 AU NM_001034023 exon8 c.5652-82T>C 0.310304 0.2123 Uncertain 1_44686322_T->C 1 44686322 44686322 T C snp 1412.77 0/1 99 124 64 60 0.48 UTR3 rs12419 DMAP1 AU 0.274161 0.2371 0.266877 0.3022 0.2327 Uncertain 1_44785571_G->A 1 44785571 44785571 G A snp 101.77 0/1 99 13 9 4 0.31 intronic rs75262528 ERI3 AU NM_001301698 exon6 c.98187+155G>A 0.0419329 0.002 Uncertain 1_44788398_A->T 1 44788398 44788398 A T snp 1473.77 1/1 99 55 0 55 1.0 intronic rs161721 ERI3 AU NM_001301698 exon6 c.98187+2982A>T 0.979233 0.9921 0.9833 0.9897 0.02 T 0.000 P -1.043 T Uncertain 1_45080061_C->T 1 45080061 45080061 C T snp 78.77 0/1 69 5 2 3 0.6 intronic rs415707 RNF220 AU NM_018150 exon3 c.202200+92C>T 0.156749 0.2619 Uncertain 1_45121018_T->C 1 45121018 45121018 T C snp 423.77 1/1 33 11 0 11 1.0 intronic rs59257919 TMEM53 AU NM_001300746 exon1 c.651+137T>C 0.240016 0.5883 Uncertain 1_45121045_T->C 1 45121045 45121045 T C snp 50.74 1/1 6 2 0 2 1.0 intronic rs11211020 TMEM53 AU NM_001300746 exon1 c.651+164T>C 0.724241 0.8204 Uncertain 1_45166513_T->A 1 45166513 45166513 T A snp 1081.77 1/1 81 34 0 34 1.0 intronic rs2355710 C1orf228 AU NM_001145636 exon5 c.11225-81T>A 0.410543 0.6855 Uncertain 1_45170012_A->G 1 45170012 45170012 A G snp 483.77 1/1 36 15 0 15 1.0 intronic rs12088087 C1orf228 AU NM_001145636 exon6 c.14476+167A>G 0.527157 0.7629 Uncertain 1_45362992_T->C 1 45362992 45362992 T C snp 2954.77 1/1 99 120 0 120 1.0 intronic rs263978 EIF2B3 AR NM_001166588 exon5 c.22714-34T>C 0.791134 0.9742 0.661080 0.6589 0.9733 Uncertain 1_45470130_T->C 1 45470130 45470130 T C snp 513.77 1/1 39 15 0 15 1.0 intronic rs7528534 HECTD3 AU NM_024602 exon5 c.886+81T>C 0.896366 0.874 Uncertain 1_45472799_TGTGTGTG->- 1 45472799 45472806 TGTGTGTG - indel 2110.73 1/1 72 36 0 36 1.0 intronic rs147908761 HECTD3 AU NM_024602 exon11 c.3727-91_3727-84delTGTGTGTG 0.990615 1 Uncertain 1_45473316_C->T 1 45473316 45473316 C T snp 182.9 1/1 15 5 0 5 1.0 intronic rs4660830 HECTD3 AU NM_024602 exon12 c.4104+49C>T 0.644968 0.5853 0.688859 0.6685 0.6114 Uncertain 1_45474157_G->A 1 45474157 45474157 G A snp 1846.77 1/1 99 60 0 60 1.0 intronic rs2298006 HECTD3 AU NM_024602 exon14 c.5044-50G>A 0.570088 0.5853 0.608935 0.6394 0.6056 Uncertain 1_45475566_A->G 1 45475566 45475566 A G snp 1355.77 1/1 99 36 0 36 1.0 intronic rs6429552 HECTD3 AU NM_024602 exon18 c.6494-91A>G 1 1 Uncertain 1_45476069_C->A 1 45476069 45476069 C A snp 465.77 1/1 36 12 0 12 1.0 intronic rs7533668 HECTD3 AU NM_024602 exon19 c.6802+104C>A 0.990016 0.9921 Uncertain 1_45479874_G->T 1 45479874 45479874 G T snp 1074.77 1/1 78 35 0 35 1.0 intronic rs6698485 UROD AD NM_000374 exon6 c.1805+132G>T 0.992612 1 Uncertain 1_45480733_C->T 1 45480733 45480733 C T snp 61.28 1/1 9 3 0 3 1.0 intronic rs6429553 UROD AD NM_000374 exon9 c.2741+55C>T 0.992612 1 0.988392 Uncertain 1_45485015_G->A 1 45485015 45485015 G A snp 169.77 0/1 99 21 12 9 0.43 intronic rs145543390 ZSWIM5 AU NM_020883 exon1 c.863+27G>A 0.000599042 0.003 0.0004 0.0057 Uncertain 1_45486272_T->C 1 45486272 45486272 T C snp 303.78 1/1 24 9 0 9 1.0 intronic rs998418 ZSWIM5 AU NM_020883 exon3 c.2171-24T>C 0.648363 0.7024 0.679588 0.7093 0.7355 Uncertain 1_45500294_A->G 1 45500294 45500294 A G snp 176.9 1/1 15 5 0 5 1.0 intronic rs6671633 ZSWIM5 AU NM_020883 exon4 c.16016+153A>G 0.56869 0.5853 Uncertain 1_45504720_G->C 1 45504720 45504720 G C snp 2175.77 1/1 99 77 0 77 1.0 exonic rs7551698 ZSWIM5 AU synonymous SNV NM_020883 exon8 c.C1782G p.T594T 0.510383 0.4544 0.534630 0.5688 0.5086 Uncertain 1_45524213_C->T 1 45524213 45524213 C T snp 1314.77 1/1 99 38 0 38 1.0 intronic rs3738246 ZSWIM5 AU NM_020883 exon11 c.40155-67C>T 0.880791 0.869 Uncertain 1_45671372_G->C 1 45671372 45671372 G C snp 1574.77 0/1 99 178 105 73 0.41 intronic rs371872676 ZSWIM5 AU NM_020883 exon14 c.187302-55G>C 0.000399361 Uncertain 1_45796269_G->C 1 45796269 45796269 G C snp 2472.77 1/1 99 90 0 90 1.0 intronic rs3219493 MUTYH AR,AO,AU NM_001048174 exon2 c.1252+40G>C 0.935304 0.9137 0.926253 0.9245 0.8938 Uncertain 1_45796354_G->T 1 45796354 45796354 G T snp 351.77 0/1 99 22 8 14 0.64 intronic rs3219492 MUTYH AR,AO,AU NM_001048174 exon2 c.1252+125G>T 0.151957 0.1607 Uncertain 1_45797505_C->G 1 45797505 45797505 C G snp 679.77 0/1 99 42 16 26 0.62 exonic rs3219489 MUTYH AR,AO,AU nonsynonymous SNV NM_001128425 exon12 c.G1014C p.Q338H 0.313498 0.3909 0.254115 0.2967 0.4303 0.14 T 0.054 P -0.933 T 0.645 T 0.18 P CLINSIG=non-pathogenic|non-pathogenic|non-pathogenic|non-pathogenic;CLNDBN=not_provided|not_specified|Hereditary_cancer-predisposing_syndrome|Carcinoma_of_colon;CLNREVSTAT=no_assertion_criteria_provided|criteria_provided\x2c_single_submitter|criteria_provided\x2c_single_submitter|no_assertion_criteria_provided;CLNACC=RCV000034684.1|RCV000079500.4|RCV000131427.2|RCV000144634.1;CLNDSDB=MedGen|MedGen|MedGen:SNOMED_CT|MedGen:SNOMED_CT;CLNDSDBID=CN221809|CN169374|C0027672:699346009|C0699790:269533000 ID=CM083726;DIS=Reduced activity;TAG=DFP;PUB=18534194 DFP Pathogenic 1_45798555_T->C 1 45798555 45798555 T C snp 7275.77 1/1 99 249 0 249 1.0 intronic rs3219487 MUTYH AR,AO,AU NM_001048174 exon11 c.3612-34T>C 0.937101 0.9137 0.930263 0.9255 0.8881 Uncertain 1_45805566_G->C 1 45805566 45805566 G C snp 3741.77 1/1 99 133 0 133 1.0 UTR5 rs3219468 TOE1 AU 0.994409 1 0.9879 1 Uncertain 1_45813441_T->C 1 45813441 45813441 T C snp 212.77 0/1 99 24 15 9 0.38 intronic rs2298018 TESK2 AU NM_007170 exon5 c.2854+76T>C 0.41893 0.3859 Uncertain 1_45813820_G->A 1 45813820 45813820 G A snp 314.77 0/1 99 26 16 10 0.38 intronic rs2153607 TESK2 AU NM_007170 exon6 c.3161+148G>A 0.41873 0.3859 Uncertain 1_45887288_T->C 1 45887288 45887288 T C snp 415.77 0/1 99 24 11 13 0.54 intronic rs3790582 TESK2 AU NM_007170 exon9 c.76885-108T>C 0.287939 0.3492 Uncertain 1_45961955_A->G 1 45961955 45961955 A G snp 437.77 1/1 33 15 0 15 1.0 ncRNA_intronic rs937290 CCDC163P AU 0.822484 0.9365 Uncertain 1_45962137_T->C 1 45962137 45962137 T C snp 1194.77 0/1 99 118 67 51 0.43 ncRNA_intronic rs41302744 CCDC163P AU 0.165136 0.4663 0.1236 0.5596 0 D 0.0 P -0.951 T Uncertain 1_45965307_G->A 1 45965307 45965307 G A snp 2831.77 0/1 99 220 109 111 0.5 ncRNA_exonic rs12568144 CCDC163P AU 0.471046 0.5952 0.414257 0.5001 0.6234 Uncertain 1_45965340_T->C 1 45965340 45965340 T C snp 4422.77 1/1 99 140 1 139 0.99 ncRNA_exonic rs7546268 CCDC163P AU 0.82528 0.9444 0.707622 Uncertain 1_45973928_G->A 1 45973928 45973928 G A snp 2882.77 0/1 99 250 128 122 0.49 exonic rs2275276 MMACHC AR synonymous SNV NM_015506 exon3 c.G321A p.V107V 0.47524 0.5952 0.416191 0.4664 0.5740 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter|criteria_provided\x2c_single_submitter;CLNACC=RCV000081738.3|RCV000126793.1;CLNDSDB=MedGen|MedGen;CLNDSDBID=CN169374|CN221809 Uncertain 1_45980862_T->G 1 45980862 45980862 T G snp 569.77 1/1 45 15 0 15 1.0 intronic rs2356561 PRDX1 AU NM_001202431 exon3 c.3667+195T>G 0.744209 0.9137 Uncertain 1_45981512_T->C 1 45981512 45981512 T C snp 3147.77 1/1 99 120 0 120 1.0 intronic rs2356559 PRDX1 AU NM_001202431 exon4 c.4479+33T>C 0.81849 0.9216 0.7272 0.9265 Uncertain 1_45984853_TGT->- 1 45984853 45984855 TGT - indel 570.73 0/1 99 36 19 17 0.47 intronic rs3082814 PRDX1 AU NM_001202431 exon5 c.7726+127_7726+129delTGT 0.263379 0.3006 Uncertain 1_46027355_T->C 1 46027355 46027355 T C snp 828.77 0/1 99 80 42 38 0.47 intronic rs512083 AKR1A1 AU 0.576078 0.6706 Uncertain 1_46035371_A->T 1 46035371 46035371 A T snp 336.77 0/1 99 21 8 13 0.62 intronic AKR1A1 AU NM_001202413 exon10 c.8096-191A>T Uncertain 1_46035760_A->T 1 46035760 46035760 A T snp 150.77 0/1 99 8 3 5 0.63 downstream rs3014216 AKR1A1 AU 0.500399 0.6488 Uncertain 1_46050005_TCGG->- 1 46050005 46050008 TCGG - indel 1196.73 0/1 99 47 23 24 0.51 intronic rs57257530 NASP AU NM_152298 exon1 c.59+128_59+131delTCGG 0.663738 0.6617 Uncertain 1_46065998_T->C 1 46065998 46065998 T C snp 4694.77 1/1 99 175 0 175 1.0 intronic rs3014211 NASP AU NM_152298 exon3 c.18108-1928T>C 0.985224 0.994 0.968025 Uncertain 1_46072887_G->C 1 46072887 46072887 G C snp 444.77 0/1 99 39 19 20 0.51 intronic rs193229931 NASP AU NM_002482 exon6 c.23174-105G>C 0.00279553 0.0139 0.0012 0.0231 Uncertain 1_46073489_G->A 1 46073489 46073489 G A snp 772.77 0/1 99 59 24 35 0.59 exonic rs2230657 NASP AU synonymous SNV NM_001195193 exon4 c.G714A p.P238P 0.573482 0.6329 0.540597 0.5181 0.6109 Uncertain 1_46078630_A->G 1 46078630 46078630 A G snp 62.77 0/1 91 8 4 4 0.5 intronic rs2050376 NASP AU NM_152298 exon6 c.29022-210A>G 0.679113 0.6577 Uncertain 1_46078854_A->G 1 46078854 46078854 A G snp 475.77 0/1 99 74 52 22 0.3 exonic rs2230658 NASP AU synonymous SNV NM_001195193 exon5 c.A1248G p.S416S 0.679113 0.6577 0.720283 0.6993 0.6344 1.000 P -0.969 T Likely benign 1_46078884_C->T 1 46078884 46078884 C T snp 506.77 0/1 99 58 39 19 0.33 exonic rs2230659 NASP AU synonymous SNV NM_001195193 exon5 c.C1278T p.T426T 0.678315 0.6577 0.719207 0.6996 0.6348 1.0 P -0.998 T Likely benign 1_46080530_T->C 1 46080530 46080530 T C snp 582.77 0/1 99 33 15 18 0.55 intronic rs2991985 NASP AU NM_152298 exon9 c.30866-154T>C 0.528754 0.6468 Uncertain 1_46080947_A->C 1 46080947 46080947 A C snp 2626.77 0/1 99 230 121 109 0.47 intronic rs1972410 NASP AU NM_152298 exon10 c.31158-29A>C 0.6875 0.6925 0.722359 0.7073 0.6677 Uncertain 1_46081940_T->A 1 46081940 46081940 T A snp 2486.77 1/1 99 89 0 89 1.0 intronic rs2356581 NASP AU NM_152298 exon11 c.32190-68T>A 0.984824 0.9931 0.967806 Uncertain 1_46081960_C->T 1 46081960 46081960 C T snp 1354.77 0/1 99 117 58 59 0.5 intronic rs2253862 NASP AU NM_152298 exon11 c.32190-48C>T 0.685503 0.6835 0.721898 0.7063 0.6561 Uncertain 1_46082431_C->A 1 46082431 46082431 C A snp 1498.77 0/1 99 161 96 65 0.4 intronic rs2991988 NASP AU NM_152298 exon12 c.32557+56C>A 0.685503 0.6835 0.717258 Uncertain 1_46085852_C->T 1 46085852 46085852 C T snp 508.77 0/1 99 34 17 17 0.5 UTR3 rs2275085 CCDC17 AU 0.678115 0.6577 Uncertain 1_46085879_C->G 1 46085879 46085879 C G snp 597.77 0/1 99 66 41 25 0.38 UTR3 rs2275086 CCDC17 AU 0.685304 0.6835 Uncertain 1_46086077_C->T 1 46086077 46086077 C T snp 1059.77 0/1 99 99 52 47 0.47 exonic rs3014246 CCDC17 AU nonsynonymous SNV NM_001114938 exon13 c.G1739A p.S580N 0.686502 0.6925 0.719779 0.7094 0.6771 0.79 T 0.0 P -0.917 T 0.001 T 0.002 T Pathogenic 1_46086351_G->A 1 46086351 46086351 G A snp 1147.77 0/1 99 89 48 41 0.46 intronic rs75656203 CCDC17 AU NM_001190182 exon2 c.448-43G>A 0.0285543 0.13 0.002157 0.0195 0.2376 Uncertain 1_46086913_C->T 1 46086913 46086913 C T snp 110.77 0/1 99 18 13 5 0.28 intronic rs3014245 CCDC17 AU NM_001190182 exon4 c.1006-39C>T 0.685703 0.6835 0.724064 0.7291 0.7046 Uncertain 1_46087577_G->A 1 46087577 46087577 G A snp 2562.77 0/1 99 240 128 112 0.47 exonic rs3014242 CCDC17 AU nonsynonymous SNV NM_001114938 exon8 c.C1058T p.P353L 0.677117 0.6518 0.719360 0.7094 0.6419 1 T 0.996 P -0.954 T 0.14 T 0.031 T Pathogenic 1_46087879_A->G 1 46087879 46087879 A G snp 3097.77 0/1 99 202 85 117 0.58 intronic rs3014241 CCDC17 AU NM_001190182 exon7 c.1966-33A>G 0.685503 0.6925 0.720624 0.7211 0.6981 Uncertain 1_46089225_C->G 1 46089225 46089225 C G snp 3154.77 0/1 99 238 110 128 0.54 splicing rs3014240 CCDC17 AU NM_001190182 exon12 c.3282-3C>G 0.685503 0.6835 0.6917 0.6900 Pathogenic 1_46094027_A->G 1 46094027 46094027 A G snp 1334.77 0/1 99 136 79 57 0.42 exonic rs1250 GPBP1L1 AU synonymous SNV NM_021639 exon13 c.T1326C p.S442S 0.322484 0.3472 0.280870 0.3009 0.3683 Uncertain 1_46095143_C->A 1 46095143 46095143 C A snp 134.77 0/1 99 11 5 6 0.55 intronic rs10159068 GPBP1L1 AU NM_021639 exon2 c.1320-104C>A 0.33127 0.3125 Uncertain 1_46095272_T->C 1 46095272 46095272 T C snp 1676.77 0/1 99 127 55 72 0.57 exonic rs1135812 GPBP1L1 AU synonymous SNV NM_021639 exon12 c.A1248G p.K416K 0.319089 0.3165 0.281639 0.3049 0.3464 Uncertain 1_46096403_T->- 1 46096403 46096403 T - indel 361.73 0/1 99 24 6 18 0.75 intronic rs10708598 GPBP1L1 AU NM_021639 exon3 c.2351+125delT 0.325479 0.3423 Uncertain 1_46124558_A->G 1 46124558 46124558 A G snp 118.77 0/1 99 9 4 5 0.56 intronic rs10789468 GPBP1L1 AU NM_021639 exon10 c.30772-141A>G 0.357228 0.3423 Uncertain 1_46124663_A->G 1 46124663 46124663 A G snp 1207.77 0/1 99 117 67 50 0.43 intronic rs6671802 GPBP1L1 AU NM_021639 exon10 c.30772-36A>G 0.503395 0.3532 0.546286 0.5187 0.3745 Uncertain 1_46160260_C->T 1 46160260 46160260 C T snp 1310.77 0/1 99 115 58 57 0.5 intronic rs6658700 IPP AU NM_001145349 exon1 c.98+73C>T 0.319489 0.3165 Uncertain 1_46165875_-->A 1 46165875 46165875 - A indel 158.73 0/1 99 33 11 22 0.67 intronic rs397749022 IPP AU NM_005897 exon1 c.225+13insA 0.294329 0.3135 0.278630 0.3135 0.3557 Uncertain 1_46166861_G->C 1 46166861 46166861 G C snp 480.77 0/1 99 78 49 29 0.37 intronic rs4564187 IPP AU NM_005897 exon1 c.225+999G>C 0.32508 0.3393 Uncertain 1_46195212_AAC->- 1 46195212 46195214 AAC - indel 2125.73 0/1 99 82 39 43 0.52 intronic rs139068713 IPP AU NM_005897 exon6 c.29648-73_29648-71delAAC 0.312899 0.3046 ID=COSN168855;OCCURENCE=1(large_intestine) Uncertain 1_46195375_T->C 1 46195375 46195375 T C snp 2879.77 0/1 99 221 93 128 0.58 exonic rs28375469 IPP AU nonsynonymous SNV NM_001145349 exon4 c.A791G p.K264R 0.314896 0.3135 0.279410 0.3040 0.3433 0.04 T 1.000 P -1.089 T 0.006 T 0.005 T Pathogenic 1_46206540_A->G 1 46206540 46206540 A G snp 585.77 0/1 99 43 22 21 0.49 intronic rs28507722 IPP AU NM_005897 exon7 c.40935-32A>G 0.314896 0.3135 0.279222 0.3073 0.3487 Uncertain 1_46290312_TA->- 1 46290312 46290313 TA - indel 1801.73 0/1 99 84 32 52 0.62 intronic rs10561161 MAST2 AU NM_015112 exon2 c.20685+60_20685+61delTA 0.376398 0.2976 Uncertain 1_46347875_A->T 1 46347875 46347875 A T snp 170.9 1/1 15 6 0 6 1.0 intronic rs56242896 MAST2 AU NM_015112 exon4 c.78468-160A>T 0.99401 1 Uncertain 1_46347879_T->- 1 46347879 46347879 T - indel 241.75 1/1 24 9 0 9 1.0 intronic rs201525530 MAST2 AU NM_015112 exon4 c.78468-156delT 0.99401 1 Uncertain 1_46347910_G->A 1 46347910 46347910 G A snp 1269.77 1/1 93 37 0 37 1.0 intronic rs6665193 MAST2 AU NM_015112 exon4 c.78468-125G>A 0.874401 0.9841 Uncertain 1_46348229_C->G 1 46348229 46348229 C G snp 255.77 0/1 99 19 10 9 0.47 intronic rs11211217 MAST2 AU NM_015112 exon4 c.78500+162C>G 0.377396 0.2996 Uncertain 1_46379518_A->G 1 46379518 46379518 A G snp 5089.77 1/1 99 182 0 182 1.0 intronic rs4256763 MAST2 AU NM_015112 exon4 c.78500+31451A>G 0.874201 0.9841 0.8121 0.9903 Uncertain 1_46382852_T->C 1 46382852 46382852 T C snp 77.77 0/1 99 7 4 3 0.43 intronic rs6687301 MAST2 AU NM_015112 exon4 c.78500+34785T>C 0.3752 0.2907 Uncertain 1_46424864_G->T 1 46424864 46424864 G T snp 71.77 0/1 99 6 3 3 0.5 intronic rs34102169 MAST2 AU NM_015112 exon5 c.155490-193G>T 0.485623 0.6607 Uncertain 1_46424964_G->A 1 46424964 46424964 G A snp 2313.77 1/1 99 79 0 79 1.0 intronic rs4460582 MAST2 AU NM_015112 exon5 c.155490-93G>A 0.998003 1 Uncertain 1_46466721_T->C 1 46466721 46466721 T C snp 2709.77 0/1 99 242 124 118 0.49 intronic rs11589562 MAST2 AU NM_015112 exon7 c.198909-1755T>C 0.484026 0.6607 Uncertain 1_46472153_G->A 1 46472153 46472153 G A snp 141.03 1/1 12 4 0 4 1.0 intronic rs6429592 MAST2 AU NM_015112 exon8 c.202500+86G>A 0.874401 0.9841 Uncertain 1_46473802_A->G 1 46473802 46473802 A G snp 178.77 0/1 99 11 4 7 0.64 intronic rs3922887 MAST2 AU NM_015112 exon9 c.204400-165A>G 0.366813 0.2917 Uncertain 1_46473902_A->T 1 46473902 46473902 A T snp 871.77 0/1 99 71 33 38 0.54 intronic rs3922886 MAST2 AU NM_015112 exon9 c.204400-65A>T 0.366813 0.2917 Uncertain 1_46476587_T->G 1 46476587 46476587 T G snp 1502.77 1/1 99 59 0 59 1.0 exonic rs11211247 MAST2 AU nonsynonymous SNV NM_015112 exon10 c.T1164G p.D388E 0.874401 0.9841 0.786384 0.7924 0.9823 1 T 1.0 P -0.982 T 0.0 T 0.002 T Pathogenic 1_46485548_G->T 1 46485548 46485548 G T snp 119.77 0/1 99 10 4 6 0.6 intronic rs946529 MAST2 AU NM_015112 exon11 c.215802+179G>T 0.484824 0.6607 Uncertain 1_46485562_C->T 1 46485562 46485562 C T snp 85.77 0/1 99 8 3 5 0.63 intronic rs946528 MAST2 AU NM_015112 exon11 c.215802+193C>T 0.620607 0.7083 Uncertain 1_46487552_G->A 1 46487552 46487552 G A snp 2039.77 0/1 99 177 93 84 0.47 intronic rs2275426 MAST2 AU NM_015112 exon12 c.218054-69G>A 0.484824 0.6607 Uncertain 1_46487560_A->G 1 46487560 46487560 A G snp 2165.77 0/1 99 195 100 95 0.49 intronic rs946524 MAST2 AU NM_015112 exon12 c.218054-61A>G 0.624601 0.7083 Uncertain 1_46491635_C->T 1 46491635 46491635 C T snp 317.77 0/1 99 38 24 14 0.37 intronic rs785478 MAST2 AU NM_015112 exon16 c.221920+148C>T 0.624401 0.7073 Uncertain 1_46493460_T->G 1 46493460 46493460 T G snp 2354.77 0/1 99 177 73 104 0.59 exonic rs1707336 MAST2 AU nonsynonymous SNV NM_015112 exon17 c.T1977G p.I659M 0.485224 0.6607 0.429693 0.4612 0.6417 1 T 1.000 P -0.961 T 1.0 D 0.999 D Pathogenic 1_46496709_A->G 1 46496709 46496709 A G snp 1221.77 0/1 99 103 48 55 0.53 exonic rs925524 MAST2 AU synonymous SNV NM_015112 exon23 c.A2739G p.S913S 0.64397 0.6984 0.689819 0.6908 0.6837 Uncertain 1_46498375_A->G 1 46498375 46498375 A G snp 720.77 0/1 99 82 54 28 0.34 exonic rs1622208 MAST2 AU synonymous SNV NM_015112 exon26 c.A3522G p.V1174V 0.6877 0.7073 0.723547 0.6971 0.6883 Uncertain 1_46511487_G->C 1 46511487 46511487 G C snp 284.77 0/1 99 23 13 10 0.43 intronic rs2297883 PIK3R3 AU NM_001303427 exon2 c.2245-102G>C 0.63778 0.6885 Uncertain 1_46521517_G->A 1 46521517 46521517 G A snp 1373.77 0/1 99 137 73 64 0.47 exonic rs785468 PIK3R3 AU synonymous SNV NM_003629 exon7 c.C891T p.S297S 0.637979 0.6885 0.671536 0.6810 0.6729 Uncertain 1_46521559_A->T 1 46521559 46521559 A T snp 1477.77 0/1 99 138 72 66 0.48 exonic rs785467 PIK3R3 AU nonsynonymous SNV NM_003629 exon7 c.T849A p.N283K 0.682109 0.6885 0.718284 0.6940 0.6723 1 T 1.0 P -0.960 T 0.0 T 0.001 T Pathogenic 1_46546208_T->C 1 46546208 46546208 T C snp 723.77 0/1 99 61 36 25 0.41 intronic rs1768803 PIK3R3 AU NM_001303427 exon9 c.36969-105T>C 0.496206 0.6429 Uncertain 1_46598269_C->A 1 46598269 46598269 C A snp 574.77 0/1 99 68 42 26 0.38 UTR5 rs1707304 PIK3R3 AU 0.497404 0.6419 Uncertain 1_46598273_A->C 1 46598273 46598273 A C snp 612.77 0/1 99 71 43 28 0.39 UTR5 rs1707303 PIK3R3 AU 0.638978 0.6885 Uncertain 1_46641741_A->G 1 46641741 46641741 A G snp 295.78 1/1 24 10 0 10 1.0 intronic rs11211261 TSPAN1 AU 0.410343 0.6319 Uncertain 1_46655158_T->C 1 46655158 46655158 T C snp 1751.77 1/1 99 63 0 63 1.0 exonic rs6659553 POMGNT1 AR nonsynonymous SNV NM_017739 exon21 c.A1867G p.M623V 0.942492 1 0.941258 0.9838 1 1 T 1.0 P -0.926 T 0.0 T 0.0 T CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000153758.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 1_46810530_A->G 1 46810530 46810530 A G snp 4889.77 1/1 99 168 0 168 1.0 exonic rs3737744 NSUN4 AU nonsynonymous SNV NM_001256127 exon2 c.A4G p.T2A 0.304513 0.5169 0.280640 0.3227 0.4855 0.5 T 0.995 P -0.912 T 0.004 T 0.005 T Pathogenic 1_46827214_A->C 1 46827214 46827214 A C snp 809.77 1/1 60 27 0 27 1.0 intronic rs324414 NSUN4 AU NM_001256127 exon6 c.16715-27A>C 0.996605 1 0.985084 0.9877 1 Uncertain 1_46871986_T->C 1 46871986 46871986 T C snp 4571.77 1/1 99 174 0 174 1.0 exonic rs324419 FAAH AU synonymous SNV NM_001441 exon7 c.T897C p.C299C 0.884385 0.995 0.841765 0.8593 0.9979 Uncertain 1_46972694_C->T 1 46972694 46972694 C T snp 2639.77 0/1 99 250 138 112 0.45 exonic rs12567122 DMBX1 AU synonymous SNV NM_147192 exon1 c.C12T p.Y4Y 0.0840655 0.2688 0.006920 0.0359 0.2317 Uncertain 1_46976462_G->A 1 46976462 46976462 G A snp 60.77 0/1 89 7 4 3 0.43 intronic rs57363509 DMBX1 AU NM_172225 exon2 c.3644+136G>A 0.0838658 0.2688 Uncertain 1_46977008_G->A 1 46977008 46977008 G A snp 71.77 0/1 99 8 5 3 0.38 intronic rs41294766 DMBX1 AU NM_172225 exon3 c.4273+53G>A 0.0840655 0.2698 Uncertain 1_47013180_A->G 1 47013180 47013180 A G snp 1901.77 0/1 99 183 99 84 0.46 ncRNA_intronic rs10890404 MKNK1-AS1 AU 0.509784 0.3016 0.6192 0.3435 Uncertain 1_47013364_T->C 1 47013364 47013364 T C snp 2213.77 1/1 99 82 2 80 0.98 ncRNA_intronic rs1258041 MKNK1-AS1 AU 0.909345 0.6905 0.992201 0.9579 0.7266 Uncertain 1_47014821_-->AAAAG 1 47014821 47014821 - AAAAG indel 1218.73 0/1 99 45 18 27 0.6 ncRNA_intronic rs372272313 MKNK1-AS1 AU 0.558906 0.3204 0.6156 0.3601 Uncertain 1_47025840_C->- 1 47025840 47025840 C - indel 1943.73 0/1 99 122 59 63 0.52 ncRNA_intronic rs3831020 MKNK1-AS1 AU 0.175319 0.1756 0.154927 Uncertain 1_47033849_T->C 1 47033849 47033849 T C snp 96.28 1/1 9 3 0 3 1.0 ncRNA_intronic rs2181414 MKNK1-AS1 AU 0.527756 0.6607 Uncertain 1_47059934_T->C 1 47059934 47059934 T C snp 4419.77 1/1 99 169 0 169 1.0 UTR5 rs1258021 MKNK1 AU 0.996605 1 0.9982 1 0 D 0.000 P -0.982 T Uncertain 1_47060078_G->A 1 47060078 47060078 G A snp 294.77 0/1 99 21 11 10 0.48 intronic rs7556307 MKNK1 AU NM_001135553 exon12 c.35706+126G>A 0.253594 0.2371 Uncertain 1_47075932_C->T 1 47075932 47075932 C T snp 179.77 0/1 99 19 12 7 0.37 intronic rs3818323 MOB3C AU NM_145279 exon2 c.550+56C>T 0.288339 0.2371 Uncertain 1_47078637_T->C 1 47078637 47078637 T C snp 7762.77 1/1 99 250 0 250 1.0 exonic rs4660947 MOB3C AU synonymous SNV NM_145279 exon2 c.A513G p.A171A 0.673123 0.9583 0.511386 0.5853 0.9456 Uncertain 1_47080665_C->T 1 47080665 47080665 C T snp 2169.77 0/1 99 203 108 95 0.47 exonic rs11211328 MOB3C AU nonsynonymous SNV NM_145279 exon1 c.G84A p.M28I 0.254593 0.246 0.249116 0.2553 0.2481 0.64 T 0.0 P -0.997 T Pathogenic 1_47080679_G->A 1 47080679 47080679 G A snp 5102.77 1/1 99 194 1 193 0.99 exonic rs6671527 MOB3C AU stopgain NM_145279 exon1 c.C70T p.R24X 0.642173 0.9256 0.498770 0.5572 0.9168 0.19 T 0.0 P Pathogenic 1_47080741_C->T 1 47080741 47080741 C T snp 1268.77 0/1 99 108 54 54 0.5 exonic rs12029680 MOB3C AU nonsynonymous SNV NM_145279 exon1 c.G8A p.R3H 0.334265 0.246 0.332078 0.2787 0.2476 0 D 0.0 P -1.020 T Pathogenic 1_47099346_C->A 1 47099346 47099346 C A snp 535.77 0/1 99 43 24 19 0.44 intergenic rs723333 MOB3C AU 0.749201 0.5724 Uncertain 1_47108828_T->C 1 47108828 47108828 T C snp 899.77 0/1 99 61 23 38 0.62 intronic rs736188 ATPAF1 AU NM_022745 exon2 c.7418-37T>C 0.751597 0.5754 0.865021 0.9079 0.6059 Uncertain 1_47110766_-->C 1 47110766 47110766 - C indel 515.73 0/1 99 42 26 16 0.38 intronic rs3215990 ATPAF1 AU NM_022745 exon3 c.9385-66insC 0.750799 0.5754 Uncertain 1_47118067_G->A 1 47118067 47118067 G A snp 1607.77 1/1 99 43 0 43 1.0 intronic rs620913 ATPAF1 AU NM_022745 exon4 c.16805-185G>A 0.538938 0.7996 Uncertain 1_47118096_C->A 1 47118096 47118096 C A snp 1131.77 0/1 99 91 48 43 0.47 intronic rs2289446 ATPAF1 AU NM_022745 exon4 c.16805-156C>A 0.288738 0.375 Uncertain 1_47118189_G->T 1 47118189 47118189 G T snp 6918.77 1/1 99 250 0 250 1.0 intronic rs620431 ATPAF1 AU NM_022745 exon4 c.16805-63G>T 0.538938 0.7996 0.361805 Uncertain 1_47119348_C->T 1 47119348 47119348 C T snp 767.77 0/1 99 76 40 36 0.47 intronic rs604264 ATPAF1 AU NM_022745 exon5 c.18041-140C>T 0.188898 0.4246 Uncertain 1_47123599_C->A 1 47123599 47123599 C A snp 83.77 0/1 65 6 2 4 0.67 intronic rs2486160 ATPAF1 AU NM_022745 exon6 c.22351-199C>A 0.249201 0.4246 Uncertain 1_47124204_-->A 1 47124204 47124204 - A indel 1500.73 1/1 99 39 0 39 1.0 intronic rs34308534 ATPAF1 AU NM_022745 exon7 c.22911-154insA 0.538538 0.7996 Uncertain 1_47124479_A->G 1 47124479 47124479 A G snp 2446.77 1/1 99 86 0 86 1.0 intronic rs611468 ATPAF1 AU NM_022745 exon7 c.22962+70A>G 0.538738 0.7996 0.367499 Uncertain 1_47124554_T->A 1 47124554 47124554 T A snp 68.77 0/1 97 9 6 3 0.33 intronic rs611919 ATPAF1 AU NM_022745 exon7 c.22962+145T>A 0.249201 0.4246 Uncertain 1_47130873_A->G 1 47130873 47130873 A G snp 1069.77 1/1 78 37 0 37 1.0 intronic rs594118 ATPAF1 AU NM_022745 exon8 c.29480-54A>G 0.547125 0.7659 Uncertain 1_47131248_G->A 1 47131248 47131248 G A snp 1132.77 0/1 99 95 42 53 0.56 intronic rs596794 ATPAF1 AU NM_001256418 exon10 c.29871-70G>A 0.248802 0.4246 Uncertain 1_47131319_A->T 1 47131319 47131319 A T snp 1119.77 0/1 99 101 54 47 0.47 exonic rs597221 ATPAF1 AU nonsynonymous SNV NM_001243728 exon1 c.T2A p.M1K 0.248802 0.4246 0.0944 0.3433 0.000 P -0.915 T 0.0 T 0.002 T Pathogenic 1_47133811_T->C 1 47133811 47133811 T C snp 1102.77 1/1 78 45 0 45 1.0 exonic rs11211337 ATPAF1 AU nonsynonymous SNV NM_001042546 exon1 c.A253G p.S85G 0.834665 0.9345 0.7343 0.9 0.39 T 0.000 P -1.049 T 0.0 T 0.0 T Pathogenic 1_47137313_T->G 1 47137313 47137313 T G snp 122.77 0/1 66 7 2 5 0.71 upstream rs57495753 TEX38 AU 0.169728 0.4246 Uncertain 1_47138444_C->T 1 47138444 47138444 C T snp 432.77 1/1 33 14 0 14 1.0 intronic rs616249 TEX38 AU NM_001145474 exon2 c.938-100C>T 0.999002 1 Uncertain 1_47138819_T->G 1 47138819 47138819 T G snp 7806.77 1/1 99 250 3 247 0.99 exonic rs614486 TEX38 AU nonsynonymous SNV NM_001145474 exon2 c.T312G p.D104E 0.539337 0.7996 0.369032 0.3689 0.7621 Pathogenic 1_47139103_C->T 1 47139103 47139103 C T snp 2419.77 0/1 99 209 105 104 0.5 exonic rs1025806 TEX38 AU nonsynonymous SNV NM_001145474 exon2 c.C596T p.A199V 0.266174 0.3353 0.242444 0.2700 0.3285 Pathogenic 1_47144083_T->C 1 47144083 47144083 T C snp 613.77 0/1 99 42 17 25 0.6 ncRNA_intronic rs9094 EFCAB14-AS1 AU 0.16893 0.4246 0.045748 0.0670 0.4009 Uncertain 1_47150039_C->T 1 47150039 47150039 C T snp 83.77 0/1 63 6 2 4 0.67 ncRNA_intronic rs2241864 EFCAB14-AS1 AU 0.167332 0.4246 Uncertain 1_47152630_C->A 1 47152630 47152630 C A snp 357.77 0/1 99 30 17 13 0.43 ncRNA_intronic rs3766223 EFCAB14-AS1 AU 0.227037 0.4246 Uncertain 1_47154166_C->G 1 47154166 47154166 C G snp 1064.77 0/1 99 92 51 41 0.45 exonic rs2304746 EFCAB14 AU synonymous SNV NM_014774 exon7 c.G846C p.V282V 0.00399361 0.0198 0.0020 0.0275 Uncertain 1_47154272_C->T 1 47154272 47154272 C T snp 147.77 0/1 99 9 4 5 0.56 ncRNA_intronic rs2304745 EFCAB14-AS1 AU 0.254593 0.3353 Uncertain 1_47155098_G->A 1 47155098 47155098 G A snp 44.77 0/1 33 3 1 2 0.67 ncRNA_intronic rs2241863 EFCAB14-AS1 AU 0.167332 0.4246 Uncertain 1_47155462_G->A 1 47155462 47155462 G A snp 1445.77 1/1 99 40 0 40 1.0 ncRNA_intronic rs2241862 EFCAB14-AS1 AU 0.53754 0.7996 Uncertain 1_47157306_A->C 1 47157306 47157306 A C snp 180.77 0/1 99 10 4 6 0.6 ncRNA_intronic rs3766218 EFCAB14-AS1 AU 0.167931 0.4246 Uncertain 1_47182206_C->T 1 47182206 47182206 C T snp 318.77 0/1 99 20 9 11 0.55 intronic rs3737731 EFCAB14 AU NM_014774 exon10 c.37983+91C>T 0.27496 0.3353 Uncertain 1_47276728_G->C 1 47276728 47276728 G C snp 1707.77 0/1 99 135 71 64 0.47 intronic rs2297812 CYP4B1 AU NM_000779 exon3 c.12058-83G>C 0.496006 0.5556 Uncertain 1_47279789_C->T 1 47279789 47279789 C T snp 2634.77 0/1 99 209 100 109 0.52 intronic rs2297811 CYP4B1 AU NM_000779 exon6 c.14982+54C>T 0.144369 0.251 Uncertain 1_47280747_AT->- 1 47280747 47280748 AT - indel 2873.73 0/1 99 125 61 64 0.51 exonic rs3215983 CYP4B1 AU frameshift deletion NM_001099772 exon8 c.884_885del p.D295fs 0.135383 0.255 0.114279 0.1475 0.2505 ID=COSM1343170;OCCURENCE=1(large_intestine) Pathogenic 1_47280859_G->A 1 47280859 47280859 G A snp 1060.77 0/1 99 87 41 46 0.53 exonic rs2297810 CYP4B1 AU nonsynonymous SNV NM_001099772 exon8 c.G996A p.M332I 0.270767 0.2808 0.237121 0.1943 0.2696 0.06 T 0.999 P -0.940 T 0.153 T 0.078 T Pathogenic 1_47280884_C->T 1 47280884 47280884 C T snp 954.77 0/1 99 74 33 41 0.55 exonic rs4646491 CYP4B1 AU nonsynonymous SNV NM_001099772 exon8 c.C1021T p.R341C 0.134984 0.255 0.114178 0.1528 0.2559 0.01 T 0.000 P -1.117 T 0.525 P 0.431 P Pathogenic 1_47282772_C->T 1 47282772 47282772 C T snp 2859.77 0/1 99 249 127 122 0.49 exonic rs2297809 CYP4B1 AU nonsynonymous SNV NM_001099772 exon9 c.C1126T p.R376C 0.158347 0.254 0.139551 0.1555 0.2549 0 D 1.000 P -1.730 T 1.0 D 1.0 D Pathogenic 1_47282888_C->T 1 47282888 47282888 C T snp 975.77 0/1 99 82 45 37 0.45 intronic rs35333582 CYP4B1 AU NM_000779 exon9 c.18100+35C>T 0.125399 0.2073 0.112640 0.1430 0.2108 Uncertain 1_47333836_G->C 1 47333836 47333836 G C snp 400.77 0/1 99 31 16 15 0.48 ncRNA_intronic rs4660963 CYP4Z2P AU 0.73742 0.8938 Uncertain 1_47351034_T->A 1 47351034 47351034 T A snp 395.77 1/1 36 12 0 12 1.0 ncRNA_intronic rs5003006 CYP4Z2P AU 0.505591 0.5437 Uncertain 1_47351052_A->T 1 47351052 47351052 A T snp 633.77 1/1 51 19 0 19 1.0 ncRNA_intronic rs5003005 CYP4Z2P AU 0.526558 0.5645 Uncertain 1_47395973_G->A 1 47395973 47395973 G A snp 3355.77 1/1 99 122 0 122 1.0 exonic rs1126743 CYP4A11 AU synonymous SNV NM_000778 exon12 c.C1374T p.I458I 0.571486 0.495 0.660234 0.7032 0.5182 Uncertain 1_47398743_G->C 1 47398743 47398743 G C snp 4605.77 1/1 99 165 0 165 1.0 intronic rs3890011 CYP4A11 AU NM_000778 exon3 c.2933+24G>C 0.571486 0.496 0.660157 0.7019 0.5197 Uncertain 1_47400059_A->G 1 47400059 47400059 A G snp 5034.77 1/1 99 214 0 214 1.0 intronic rs71500102 CYP4A11 AU NM_000778 exon5 c.4252+21A>G 0.978634 1 0.9933 1 Uncertain 1_47401424_A->T 1 47401424 47401424 A T snp 744.77 1/1 60 30 0 30 1.0 intronic rs2269231 CYP4A11 AU NM_000778 exon8 c.5533+105A>T 0.570687 0.4931 Uncertain 1_47401466_T->C 1 47401466 47401466 T C snp 275.78 1/1 24 8 0 8 1.0 intronic rs2269232 CYP4A11 AU NM_000778 exon8 c.5533+147T>C 0.570687 0.4931 Uncertain 1_47402488_TGTG->- 1 47402488 47402491 TGTG - indel 5168.73 1/1 99 109 0 109 1.0 intronic rs35456301 CYP4A11 AU NM_000778 exon9 c.6677+25_6677+28delTGTG 0.6001 0.5996 Uncertain 1_47489786_T->C 1 47489786 47489786 T C snp 135.03 1/1 12 4 0 4 1.0 intronic rs2036462 CYP4X1 AU NM_178033 exon1 c.177+120T>C 0.458866 0.6915 Uncertain 1_47495822_C->T 1 47495822 47495822 C T snp 2688.77 1/1 99 101 0 101 1.0 intronic rs12141009 CYP4X1 AU NM_178033 exon2 c.6314+19C>T 0.366214 0.6925 0.208596 0.3192 0.6900 Uncertain 1_47496983_C->A 1 47496983 47496983 C A snp 2686.77 1/1 99 92 0 92 1.0 intronic rs12041262 CYP4X1 AU NM_178033 exon3 c.7618-124C>A 0.457268 0.7371 Uncertain 1_47514024_A->G 1 47514024 47514024 A G snp 59.74 1/1 6 3 0 3 1.0 intronic rs10890447 CYP4X1 AU NM_178033 exon10 c.24747-212A>G 0.550919 0.9722 Uncertain 1_47515563_-->A 1 47515563 47515563 - A indel 1219.73 1/1 99 36 0 36 1.0 intronic rs11448645 CYP4X1 AU NM_178033 exon12 c.26182-108insA 0.580272 0.9722 Uncertain 1_47515596_A->C 1 47515596 47515596 A C snp 1996.77 1/1 99 63 0 63 1.0 intronic rs1393659 CYP4X1 AU NM_178033 exon12 c.26182-75A>C 0.583466 0.9722 Uncertain 1_47550246_-->A 1 47550246 47550246 - A indel 864.73 1/1 69 23 0 23 1.0 intronic rs201981953 CYP4Z1 AU NM_178134 exon5 c.17129-45insA 0.569289 0.9712 0.266975 0.3145 0.9390 Uncertain 1_47571902_C->T 1 47571902 47571902 C T snp 3394.77 1/1 99 101 0 101 1.0 exonic rs4926802 CYP4Z1 AU synonymous SNV NM_178134 exon9 c.C1170T p.I390I 0.589657 0.9563 0.383438 0.4266 0.8573 Uncertain 1_47571905_C->T 1 47571905 47571905 C T snp 3507.77 1/1 99 101 0 101 1.0 exonic rs28463559 CYP4Z1 AU synonymous SNV NM_178134 exon9 c.C1173T p.T391T 0.579473 0.9563 0.4241 0.8576 Uncertain 1_47571944_TTT->- 1 47571944 47571946 TTT - indel 4085.73 1/1 99 113 0 113 1.0 intronic rs149137568 CYP4Z1 AU NM_178134 exon9 c.38771+11_38771+13delTTT 0.521765 0.8135 0.352322 0.3612 0.6481 Uncertain 1_47571996_T->C 1 47571996 47571996 T C snp 2318.77 1/1 99 84 0 84 1.0 intronic rs4926804 CYP4Z1 AU NM_178134 exon9 c.38771+63T>C 0.595248 0.9643 Uncertain 1_47572046_C->T 1 47572046 47572046 C T snp 722.77 1/1 57 21 0 21 1.0 intronic rs4926805 CYP4Z1 AU NM_178134 exon9 c.38771+113C>T 0.592851 0.9544 Uncertain 1_47581122_A->T 1 47581122 47581122 A T snp 568.77 1/1 42 22 1 21 0.95 intronic rs7547893 CYP4Z1 AU NM_178134 exon10 c.48038-78A>T 0.58107 0.9643 Uncertain 1_47582195_G->A 1 47582195 47582195 G A snp 481.77 1/1 36 16 0 16 1.0 intronic rs10890464 CYP4Z1 AU NM_178134 exon11 c.49159-126G>A 0.59345 0.9722 Uncertain 1_47582243_TTTCGT->- 1 47582243 47582248 TTTCGT - indel 2832.73 1/1 99 34 0 34 1.0 intronic rs145561171 CYP4Z1 AU NM_178134 exon11 c.49159-78_49159-73delTTTCGT 0.408946 0.6687 Uncertain 1_47582292_T->G 1 47582292 47582292 T G snp 1473.77 1/1 99 52 0 52 1.0 intronic rs10890465 CYP4Z1 AU NM_178134 exon11 c.49159-29T>G 0.59345 0.9722 0.389846 0.4640 0.9670 Uncertain 1_47583415_G->T 1 47583415 47583415 G T snp 1204.77 1/1 87 39 0 39 1.0 intronic rs6664496 CYP4Z1 AU NM_178134 exon12 c.50275-22G>T 0.59345 0.9722 0.389205 0.4640 0.9677 Uncertain 1_47603034_T->- 1 47603034 47603034 T - indel 259.77 1/1 21 7 0 7 1.0 upstream rs34164833 CYP4A22 AU 0.580272 0.9335 Uncertain 1_47607281_C->T 1 47607281 47607281 C T snp 5841.77 1/1 99 214 1 213 1.0 exonic rs12564525 CYP4A22 AU nonsynonymous SNV NM_001010969 exon3 c.C376T p.R126W 0.371206 0.6141 0.223051 0.2919 0.6084 1 T 0.000 P -0.903 T 0.0 T 0.0 T Pathogenic 1_47607641_C->T 1 47607641 47607641 C T snp 1386.77 0/1 99 87 36 51 0.59 intronic rs11211465 CYP4A22 AU NM_001010969 exon4 c.4622-138C>T 0.336262 0.5546 Uncertain 1_47607762_T->C 1 47607762 47607762 T C snp 2764.77 0/1 99 248 132 116 0.47 intronic rs2056901 CYP4A22 AU NM_001010969 exon4 c.4622-17T>C 0.345048 0.5546 0.218976 0.2802 0.5515 Uncertain 1_47607785_G->A 1 47607785 47607785 G A snp 2611.77 0/1 99 248 139 109 0.44 exonic rs2056900 CYP4A22 AU nonsynonymous SNV NM_001010969 exon4 c.G388A p.G130S 0.336262 0.5546 0.210518 0.2694 0.5507 0.01 T 0.999 P -0.924 T 0.997 D 0.893 D Pathogenic 1_47607851_A->T 1 47607851 47607851 A T snp 4973.77 1/1 99 174 0 174 1.0 exonic rs2056899 CYP4A22 AU nonsynonymous SNV NM_001010969 exon4 c.A454T p.N152Y 0.730831 0.9802 0.542903 0.5301 0.9828 1 T 0.000 P -0.965 T 0.0 T 0.0 T Pathogenic 1_47608983_G->T 1 47608983 47608983 G T snp 738.77 0/1 99 94 56 38 0.4 exonic rs113777592 CYP4A22 AU nonsynonymous SNV NM_001010969 exon5 c.G553T p.V185F 0.335663 0.5536 0.210506 0.2679 0.5495 0.03 T 0.001 P -0.970 T 0.872 T 0.616 P Pathogenic 1_47609407_C->T 1 47609407 47609407 C T snp 2096.77 0/1 99 142 59 83 0.58 intronic rs10890469 CYP4A22 AU NM_001010969 exon6 c.6276-26C>T 0.195288 0.247 0.145010 0.1540 0.2465 Uncertain 1_47609489_T->C 1 47609489 47609489 T C snp 6142.77 1/1 99 226 1 225 1.0 exonic rs10789501 CYP4A22 AU nonsynonymous SNV NM_001010969 exon6 c.T691C p.C231R 0.580671 0.9335 0.391665 0.4542 0.9360 1 T 0.0 P -0.930 T 0.0 T 0.0 T Pathogenic 1_47609668_T->C 1 47609668 47609668 T C snp 3744.77 1/1 99 138 0 138 1.0 intronic rs911909 CYP4A22 AU NM_001010969 exon6 c.6431+80T>C 0.579673 0.9335 Uncertain 1_47610436_G->A 1 47610436 47610436 G A snp 3706.77 ./1 99 183 19 164 0.9 intronic rs147000658 CYP4A22 AU NM_001010969 exon8 c.7255+24G>A 0.0227636 0.0595 0.0136 0.0609 Uncertain 1_47610436_G->C 1 47610436 47610436 G C snp 3706.77 ./1 99 183 19 164 0.9 intronic rs147000658 CYP4A22 AU NM_001010969 exon8 c.7255+24G>C 0.185903 0.247 0.132312 0.1520 0.2451 Uncertain 1_47610590_A->C 1 47610590 47610590 A C snp 755.77 0/1 99 101 63 38 0.38 exonic rs2405593 CYP4A22 AU synonymous SNV NM_001010969 exon9 c.A1170C p.G390G 0.101238 0.2292 0.026911 0.0777 0.2249 Uncertain 1_47611598_T->C 1 47611598 47611598 T C snp 4348.77 1/1 99 149 0 149 1.0 exonic rs2405599 CYP4A22 AU nonsynonymous SNV NM_001010969 exon10 c.T1283C p.L428P 0.375799 0.6141 0.234353 0.3026 0.6100 1 T 0.807 P -0.934 T 0.001 T 0.004 T Pathogenic 1_47611940_A->G 1 47611940 47611940 A G snp 441.77 0/1 99 31 15 16 0.52 intronic rs911905 CYP4A22 AU NM_001010969 exon11 c.8668+115A>G 0.0261581 0.0595 Uncertain 1_47614185_G->C 1 47614185 47614185 G C snp 591.77 1/1 45 17 0 17 1.0 intronic rs760440 CYP4A22 AU NM_001010969 exon12 c.11116-88G>C 0.582867 0.9315 Uncertain 1_47614621_A->G 1 47614621 47614621 A G snp 432.77 1/1 36 12 0 12 1.0 downstream rs11211469 CYP4A22 AU 0.585463 0.9355 Uncertain 1_47652871_CTTGAG->- 1 47652871 47652876 CTTGAG - indel 1374.73 0/1 99 36 18 18 0.5 intronic rs781213906 PDZK1IP1 AU NM_005764 exon3 c.3348-119_3348-114delCTTGAG Uncertain 1_47652877_C->A 1 47652877 47652877 C A snp 570.77 0/1 99 38 20 18 0.47 intronic PDZK1IP1 AU NM_005764 exon3 c.3348-113C>A Uncertain 1_47652879_T->A 1 47652879 47652879 T A snp 591.77 0/1 99 43 23 20 0.47 intronic rs60327556 PDZK1IP1 AU NM_005764 exon3 c.3348-111T>A 0.544928 0.3621 Uncertain 1_47655816_A->G 1 47655816 47655816 A G snp 276.77 0/1 99 25 16 9 0.36 upstream rs2248907 PDZK1IP1 AU 0.865216 0.8006 Uncertain 1_47685455_T->C 1 47685455 47685455 T C snp 3275.77 1/1 99 122 0 122 1.0 exonic rs927462 TAL1 AU synonymous SNV NM_003189 exon6 c.A933G p.K311K 1 1 1.0000 1 Uncertain 1_47717189_A->G 1 47717189 47717189 A G snp 2981.77 0/1 99 250 124 126 0.5 exonic rs2758735 STIL AR synonymous SNV NM_003035 exon17 c.T3483C p.P1161P 0.393371 0.4296 0.408504 0.4979 0.4494 CLINSIG=non-pathogenic,non-pathogenic|non-pathogenic;CLNDBN=not_specified,not_specified|not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter,criteria_provided\x2c_multiple_submitters\x2c_no_conflicts|criteria_provided\x2c_single_submitter;CLNACC=RCV000147697.1,RCV000080044.4|RCV000128291.1;CLNDSDB=MedGen,MedGen|MedGen;CLNDSDBID=CN169374,CN169374|CN221809 Uncertain 1_47735280_T->C 1 47735280 47735280 T C snp 631.77 0/1 99 31 8 23 0.74 intronic rs2742104 STIL AR NM_001048166 exon4 c.18499-26T>C 0.394369 0.4325 0.408720 0.5069 0.4628 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000147688.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 1_47746678_G->C 1 47746678 47746678 G C snp 1937.77 0/1 99 155 76 79 0.51 exonic rs10789505 STIL AR synonymous SNV NM_003035 exon12 c.C1452G p.S484S 0.232029 0.3095 0.165001 0.1269 0.3102 0.0 P -0.915 T CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000147681.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Likely benign 1_47765490_T->C 1 47765490 47765490 T C snp 396.77 1/1 30 11 0 11 1.0 intronic rs9436838 STIL AR NM_001048166 exon12 c.48769-86T>C 0.613618 0.5843 Uncertain 1_47767141_C->A 1 47767141 47767141 C A snp 523.77 1/1 39 15 0 15 1.0 intronic rs6689687 STIL AR NM_001048166 exon13 c.50425-91C>A 0.613618 0.5843 Uncertain 1_47767914_G->A 1 47767914 47767914 G A snp 1927.77 0/1 99 179 95 84 0.47 exonic rs3125630 STIL AR nonsynonymous SNV NM_003035 exon4 c.C257T p.A86V 0.60643 0.5675 0.593111 0.5034 0.5500 1 T 0.000 P -0.967 T 0.0 T 0.0 T CLINSIG=non-pathogenic|probable-non-pathogenic;CLNDBN=Primary_autosomal_recessive_microcephaly_7|not_specified;CLNREVSTAT=no_assertion_criteria_provided|no_assertion_criteria_provided;CLNACC=RCV000020526.1|RCV000147687.1;CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet|MedGen;CLNDSDBID=NBK9587:C2675187:612703:ORPHA2512|CN169374 Pathogenic 1_47770441_A->C 1 47770441 47770441 A C snp 379.77 0/1 99 26 14 12 0.46 intronic rs3122615 STIL AR NM_001048166 exon15 c.53753-119A>C 0.606629 0.5675 Uncertain 1_47770466_T->C 1 47770466 47770466 T C snp 880.77 0/1 99 65 32 33 0.51 intronic rs3122616 STIL AR NM_001048166 exon15 c.53753-94T>C 0.317093 0.5377 Uncertain 1_47799608_G->C 1 47799608 47799608 G C snp 215.77 0/1 99 24 12 12 0.5 UTR5 rs66904716 CMPK1 AU 0.00579073 0.0169 0.003196 0.0155 0.0720 Uncertain 1_47799639_G->C 1 47799639 47799639 G C snp 982.77 1/1 72 36 0 36 1.0 exonic rs7543016 CMPK1 AU nonsynonymous SNV NM_001136140 exon1 c.G22C p.G8R 0.596446 0.5843 0.569070 0.5647 0.6339 0.7 T 0.0 P -0.952 T 0.0 T 0.0 T Pathogenic 1_47838652_A->G 1 47838652 47838652 A G snp 236.77 0/1 99 31 20 11 0.35 exonic rs72553947 CMPK1 AU nonsynonymous SNV NM_001136140 exon2 c.A197G p.N66S 0.00579073 0.0169 0.004921 0.0065 0.0308 0.39 T 1.000 D -0.804 T 0.005 T 0.017 T ID=COSM146505;OCCURENCE=1(stomach) Pathogenic 1_47840778_C->T 1 47840778 47840778 C T snp 681.77 0/1 99 43 19 24 0.56 intronic rs72553949 CMPK1 AU NM_016308 exon5 c.41251-90C>T 0.00579073 0.0169 ID=COSN163077;OCCURENCE=1(breast),1(thyroid) Uncertain 1_47841104_C->T 1 47841104 47841104 C T snp 119.77 0/1 99 7 3 4 0.57 intronic rs2306470 CMPK1 AU NM_016308 exon5 c.41348+139C>T 0.265775 0.5536 Uncertain 1_47841109_T->C 1 47841109 47841109 T C snp 119.77 0/1 99 7 3 4 0.57 intronic rs2253511 CMPK1 AU NM_016308 exon5 c.41348+144T>C 0.946286 0.9831 Uncertain 1_47842431_G->A 1 47842431 47842431 G A snp 1370.77 1/1 96 54 0 54 1.0 UTR3 rs3125648 CMPK1 AU 0.953674 1 0.947316 0.9847 1 Uncertain 1_47882605_C->G 1 47882605 47882605 C G snp 1278.77 1/1 90 50 0 50 1.0 exonic rs189628587 FOXE3 AR,AD synonymous SNV NM_012186 exon1 c.C618G p.A206A 0.0227636 0.0942 0.0120 0.0859 Uncertain 1_47883019_T->C 1 47883019 47883019 T C snp 218.84 1/1 18 7 0 7 1.0 ncRNA_intronic rs6666370 LINC01389 AU 0.796925 0.7163 Uncertain 1_47883024_A->G 1 47883024 47883024 A G snp 182.9 1/1 15 5 0 5 1.0 ncRNA_intronic rs2820969 LINC01389 AU 0.994808 1 Uncertain 1_47904668_-->CCGCAC 1 47904668 47904668 - CCGCAC indel 3102.73 1/1 99 46 0 46 1.0 exonic rs3046924 FOXD2 AU nonframeshift insertion NM_004474 exon1 c.861_862insCCGCAC p.H287delinsHPH 0.964457 0.9881 0.903846 0.9876 0.9891 Uncertain 1_47904909_G->C 1 47904909 47904909 G C snp 1848.77 1/1 99 59 0 59 1.0 exonic rs2405913 FOXD2 AU nonsynonymous SNV NM_004474 exon1 c.G1102C p.A368P 0.999601 1 1 1 1 T 0.000 P -0.945 T 0.0 T 0.0 T Pathogenic 1_48459907_C->T 1 48459907 48459907 C T snp 3117.77 0/1 99 250 126 124 0.5 exonic rs3814006 TRABD2B AU synonymous SNV NM_001194986 exon2 c.G465A p.A155A 0.165735 0.253 0.3003 0.4559 Uncertain 1_48690229_C->A 1 48690229 48690229 C A snp 507.77 1/1 39 13 0 13 1.0 intronic rs10788884 SLC5A9 AU NM_001135181 exon2 c.1987-166C>A 0.63139 0.9841 Uncertain 1_48694594_G->A 1 48694594 48694594 G A snp 922.77 0/1 99 70 33 37 0.53 exonic rs61746559 SLC5A9 AU nonsynonymous SNV NM_001135181 exon3 c.G307A p.G103R 0.052516 0.1994 0.007843 0.0303 0.1998 0.01 T 1.000 P -1.116 T 1.0 D 1.0 D Pathogenic 1_48697226_T->C 1 48697226 48697226 T C snp 840.77 0/1 99 82 45 37 0.45 exonic rs12047252 SLC5A9 AU nonsynonymous SNV NM_001135181 exon7 c.T695C p.M232T 0.0736821 0.2351 0.008381 0.0432 0.2435 0.2 T 1.000 P -1.064 T 0.0 T 0.0 T Pathogenic 1_48697733_T->G 1 48697733 48697733 T G snp 5025.77 1/1 99 177 1 176 0.99 exonic rs212991 SLC5A9 AU nonsynonymous SNV NM_001135181 exon8 c.T882G p.I294M 0.999401 1 0.999077 0.9993 0.9999 1 T 1.0 P -0.915 T 0.001 T 0.007 T Pathogenic 1_48697781_C->T 1 48697781 48697781 C T snp 1048.77 0/1 99 113 65 48 0.42 exonic rs12161316 SLC5A9 AU synonymous SNV NM_001135181 exon8 c.C930T p.F310F 0.0527157 0.1994 0.007919 0.0306 0.1996 Uncertain 1_48698010_G->A 1 48698010 48698010 G A snp 615.77 0/1 99 63 36 27 0.43 intronic rs12161552 SLC5A9 AU NM_001135181 exon9 c.9630-28G>A 0.0527157 0.1994 0.007919 0.0314 0.2019 Uncertain 1_48699222_C->G 1 48699222 48699222 C G snp 1047.77 0/1 99 91 49 42 0.46 intronic rs41287922 SLC5A9 AU NM_001135181 exon10 c.10918-104C>G 0.0527157 0.1994 Uncertain 1_48701623_A->G 1 48701623 48701623 A G snp 428.77 0/1 99 35 21 14 0.4 intronic rs12563106 SLC5A9 AU NM_001135181 exon11 c.13143+72A>G 0.0736821 0.2351 Uncertain 1_48707838_A->G 1 48707838 48707838 A G snp 2073.77 1/1 99 58 0 58 1.0 intronic rs705430 SLC5A9 AU NM_001135181 exon14 c.19720-290A>G 0.981629 0.996 Uncertain 1_48708058_A->G 1 48708058 48708058 A G snp 1136.77 0/1 99 89 42 47 0.53 intronic rs75324786 SLC5A9 AU NM_001135181 exon14 c.19720-70A>G 0.0527157 0.1994 Uncertain 1_48713100_C->A 1 48713100 48713100 C A snp 1888.77 0/1 99 178 90 88 0.49 exonic rs12040115 SLC5A9 AU nonsynonymous SNV NM_001135181 exon15 c.C2006A p.A669E 0.0527157 0.1994 0.007919 0.0305 0.1997 0.49 T 1.000 P -1.074 T 0.646 T 0.254 P Pathogenic 1_48764419_C->T 1 48764419 48764419 C T snp 1741.77 0/1 99 181 106 75 0.41 exonic rs1056042 SPATA6 AU nonsynonymous SNV NM_001286239 exon12 c.G1391A p.C464Y 0.273962 0.3492 0.308781 0.3636 0.3560 0.15 T 0.896 P -0.865 T 0.997 D 0.994 D Pathogenic 1_48860814_G->A 1 48860814 48860814 G A snp 357.77 0/1 99 31 17 14 0.45 intronic rs2297819 SPATA6 AU NM_001286238 exon6 c.96554-124G>A 0.0519169 0.1885 Uncertain 1_48902552_G->A 1 48902552 48902552 G A snp 914.77 0/1 99 90 53 37 0.41 intronic rs1890321 SPATA6 AU NM_001286238 exon11 c.152839-14671G>A 0.272564 0.3462 Uncertain 1_48902977_G->C 1 48902977 48902977 G C snp 1290.77 1/1 93 53 0 53 1.0 intronic rs2261674 SPATA6 AU NM_001286238 exon11 c.152839-14246G>C 0.980032 1 Uncertain 1_48937691_A->T 1 48937691 48937691 A T snp 543.77 0/1 99 74 42 32 0.43 UTR5 rs2275309 SPATA6 AU 0.273363 0.3452 0.288089 0.4347 0.4166 Uncertain 1_49056762_-->CC 1 49056762 49056762 - CC indel 153.73 0/1 99 22 6 16 0.73 intronic AGBL4 AU NM_032785 exon5 c.56813+105insCC Uncertain 1_49113319_T->C 1 49113319 49113319 T C snp 1415.77 0/1 99 140 77 63 0.45 intronic rs319953 AGBL4 AU NM_032785 exon7 c.119164-5689T>C 0.65595 0.3651 0.6823 0.4179 Uncertain 1_49128720_C->T 1 49128720 49128720 C T snp 213.77 0/1 99 51 38 13 0.25 intronic rs320007 AGBL4 AU NM_032785 exon8 c.128979-103C>T 0.421725 0.3274 Uncertain 1_49193394_G->T 1 49193394 49193394 G T snp 628.77 1/1 48 17 0 17 1.0 UTR3 rs1385152 BEND5 AU 0.770567 0.7589 Uncertain 1_49224584_G->T 1 49224584 49224584 G T snp 1828.77 0/1 99 179 102 77 0.43 exonic rs1128934 BEND5 AU synonymous SNV NM_001302082 exon3 c.C226A p.R76R 0.689896 0.5327 0.806089 0.8008 0.4953 Uncertain 1_49511424_A->G 1 49511424 49511424 A G snp 2444.77 0/1 99 196 91 105 0.54 exonic rs3934240 AGBL4 AU synonymous SNV NM_032785 exon5 c.T426C p.H142H 0.22504 0.4246 0.176522 0.2289 0.4850 Uncertain 1_50331725_T->C 1 50331725 50331725 T C snp 1156.77 1/1 84 42 0 42 1.0 intronic rs10788920 AGBL4 AU NM_032785 exon13 c.1317346+14535T>C 0.875599 0.6944 Uncertain 1_50572096_C->A 1 50572096 50572096 C A snp 4175.77 1/1 99 151 1 150 0.99 intronic rs12138061 ELAVL4 AU NM_001144775 exon1 c.117+31C>A 0.21226 0.3482 0.178155 0.2304 0.3543 Uncertain 1_50661411_C->T 1 50661411 50661411 C T snp 5187.77 1/1 99 196 0 196 1.0 exonic rs2480683 ELAVL4 AU synonymous SNV NM_001144774 exon5 c.C687T p.P229P 0.816494 0.999 0.796632 0.9282 0.9988 Uncertain 1_50666515_C->T 1 50666515 50666515 C T snp 2534.77 1/1 99 89 0 89 1.0 exonic rs2494876 ELAVL4 AU nonsynonymous SNV NM_021952 exon7 c.C808T p.P270S 0.697085 0.6528 0.754113 0.8398 0.6538 0.67 T 1.000 P -1.017 T 0.001 T 0.002 T Pathogenic 1_50884778_G->A 1 50884778 50884778 G A snp 921.77 1/1 69 36 0 36 1.0 exonic rs2746610 DMRTA2 AU synonymous SNV NM_032110 exon3 c.C1188T p.A396A 1 . Uncertain 1_50941040_T->C 1 50941040 50941040 T C snp 363.77 0/1 99 28 16 12 0.43 intronic rs17106231 FAF1 AU NM_007051 exon2 c.34024-95T>C 0.0091853 0.0149 Uncertain 1_50956164_AAGG->- 1 50956164 50956167 AAGG - indel 4713.73 1/1 99 81 1 80 0.99 intronic rs143167159 FAF1 AU NM_007051 exon3 c.49148-95_49148-92delAAGG 0.478235 0.7083 Uncertain 1_50956212_-->AAATACAGTGG 1 50956212 50956212 - AAATACAGTGG indel 23876.7 1/1 99 176 0 176 1.0 intronic rs149582773 FAF1 AU NM_007051 exon3 c.49148-47insAAATACAGTGG 1 1 0.991852 0.9993 1 Uncertain 1_50957509_A->T 1 50957509 50957509 A T snp 1820.77 1/1 99 56 0 56 1.0 intronic rs1149790 FAF1 AU NM_007051 exon4 c.50362+36A>T 0.933906 1 0.923728 0.8998 0.9977 Uncertain 1_51759989_C->A 1 51759989 51759989 C A snp 495.77 0/1 99 28 11 17 0.61 intronic rs186617327 TTC39A AU NM_001297665 exon5 c.6234-73C>A 0.00379393 0.0099 Uncertain 1_51873951_G->A 1 51873951 51873951 G A snp 3369.77 1/1 99 111 0 111 1.0 exonic rs1065754 EPS15 AU synonymous SNV NM_001159969 exon3 c.C387T p.Y129Y 0.822684 0.9921 0.729279 0.7347 0.9935 Uncertain 1_51905949_-->TG 1 51905949 51905949 - TG indel 722.73 0/1 47 25 3 22 0.88 intronic rs149345524 EPS15 AU NM_001981 exon14 c.83647-69insTG Uncertain 1_52256102_C->T 1 52256102 52256102 C T snp 724.77 0/1 99 36 12 24 0.67 intronic rs143906002 NRD1 AU NM_001101662 exon3 c.1297-102C>T 0.00778754 0.0367 Uncertain 1_52266242_G->A 1 52266242 52266242 G A snp 3309.77 1/1 99 118 0 118 1.0 exonic rs8375 NRD1 AU synonymous SNV NM_001101662 exon21 c.C2427T p.P809P 0.489018 0.8234 0.426649 0.5032 0.8304 1.000 P Uncertain 1_52279650_T->G 1 52279650 52279650 T G snp 2723.77 1/1 99 102 0 102 1.0 intronic rs2982846 NRD1 AU NM_001101662 exon18 c.24799-56T>G 0.834465 0.9831 0.721638 Uncertain 1_52289221_GTATTAAGGTCAA->- 1 52289221 52289233 GTATTAAGGTCAA - indel 1424.74 1/1 27 9 0 9 1.0 intronic rs34812066 NRD1 AU NM_001101662 exon25 c.34428-114_34428-102delGTATTAAGGTCAA 0.5623 0.9266 Uncertain 1_52290984_T->G 1 52290984 52290984 T G snp 913.77 1/1 66 35 0 35 1.0 exonic rs11205896 NRD1 AU synonymous SNV NM_001101662 exon6 c.A1011C p.G337G 0.498403 0.8313 0.430340 0.5039 0.8300 Uncertain 1_52293570_G->A 1 52293570 52293570 G A snp 4709.77 1/1 99 166 0 166 1.0 intronic rs2077725 NRD1 AU NM_001101662 exon27 c.38634+29G>A 0.624601 0.9256 0.549592 0.6242 0.9435 Uncertain 1_52293638_G->A 1 52293638 52293638 G A snp 1256.77 1/1 93 33 0 33 1.0 intronic rs706495 NRD1 AU NM_001101662 exon27 c.38634+97G>A 1 1 Uncertain 1_52305886_C->T 1 52305886 52305886 C T snp 1069.77 0/1 99 78 34 44 0.56 intronic rs147476178 NRD1 AU NM_001101662 exon30 c.50990-11C>T 0.00179712 0.0089 0.0013 0.0165 Uncertain 1_52306064_TCT->- 1 52306064 52306066 TCT - indel 4392.73 1/1 99 93 0 93 1.0 exonic rs35723519 NRD1 AU nonframeshift deletion NM_001101662 exon2 c.462_464del p.154_155del 0.561701 0.9256 0.5572 0.9442 ID=COSM1237693;OCCURENCE=1(thyroid) Uncertain 1_52344414_A->C 1 52344414 52344414 A C snp 887.77 1/1 69 24 0 24 1.0 UTR5 rs736756 NRD1 AU 0.4998 0.8313 Uncertain 1_52402856_T->G 1 52402856 52402856 T G snp 406.77 1/1 33 12 0 12 1.0 intronic rs10888741 RAB3B AU NM_002867 exon3 c.17367-109T>G 0.881789 0.997 Uncertain 1_52402956_G->A 1 52402956 52402956 G A snp 3462.77 1/1 99 128 1 127 0.99 intronic rs10888742 RAB3B AU NM_002867 exon3 c.17367-9G>A 0.881589 0.997 0.881901 0.9327 0.9997 Uncertain 1_52403276_T->A 1 52403276 52403276 T A snp 56.74 1/1 6 2 0 2 1.0 intronic rs6697270 RAB3B AU NM_002867 exon3 c.17486+192T>A 0.578075 0.8482 Uncertain 1_52489322_G->A 1 52489322 52489322 G A snp 4317.77 1/1 99 150 0 150 1.0 intronic rs2783178 TXNDC12 AU NM_015913 exon2 c.2642+76G>A 0.923722 1 Uncertain 1_52490418_C->T 1 52490418 52490418 C T snp 908.77 1/1 66 27 0 27 1.0 intronic rs4926906 TXNDC12 AU NM_015913 exon3 c.3647+167C>T 0.703674 0.8214 Uncertain 1_52517412_A->G 1 52517412 52517412 A G snp 4650.77 1/1 99 168 0 168 1.0 ncRNA_intronic rs7529324 TXNDC12-AS1 AU 0.703474 0.8224 Uncertain 1_52729432_C->G 1 52729432 52729432 C G snp 1507.77 0/1 99 158 76 82 0.52 intronic rs3833531 ZFYVE9 AU NM_007324 exon5 c.30566-12C>G 0.290136 0.4851 0.337069 0.6134 0.6747 Uncertain 1_52820226_G->A 1 52820226 52820226 G A snp 6281.77 1/1 99 213 0 213 1.0 intronic rs2820334 CC2D1B AU NM_032449 exon2 c.1089-53G>A 0.994808 1 0.994306 Uncertain 1_52840672_C->G 1 52840672 52840672 C G snp 326.77 0/1 99 45 26 19 0.42 intronic ORC1 AR NM_004153 exon2 c.1717+103C>G Uncertain 1_52876562_A->G 1 52876562 52876562 A G snp 335.78 1/1 27 12 0 12 1.0 intronic rs11205954 PRPF38A AU NM_032864 exon4 c.6365-224A>G 0.996406 1 Uncertain 1_53072454_T->C 1 53072454 53072454 T C snp 6309.77 1/1 99 228 1 227 1.0 exonic rs1970951 GPX7 AU synonymous SNV NM_015696 exon2 c.T237C p.F79F 0.877995 0.7996 0.875903 0.8478 0.7817 Uncertain 1_53072741_A->G 1 53072741 53072741 A G snp 216.84 1/1 18 6 0 6 1.0 intronic rs1970950 GPX7 AU NM_015696 exon2 c.4536+124A>G 0.819489 0.7986 Uncertain 1_53099517_A->G 1 53099517 53099517 A G snp 187.77 0/1 99 11 4 7 0.64 intronic rs61780593 FAM159A AU NM_001042693 exon1 c.182+170A>G 0.261581 0.3393 Uncertain 1_53237526_G->A 1 53237526 53237526 G A snp 1265.77 1/1 93 35 0 35 1.0 intronic rs1571979 ZYG11B AU NM_024646 exon3 c.45121+80G>A 0.714856 0.9792 Uncertain 1_53245472_A->T 1 53245472 53245472 A T snp 3187.75 1/1 99 113 0 113 1.0 intronic rs9661082 ZYG11B AU NM_024646 exon4 c.53199-52A>T 0.714856 0.9792 Uncertain 1_53250650_G->A 1 53250650 53250650 G A snp 4086.77 1/1 99 151 0 151 1.0 exonic rs6588443 ZYG11B AU synonymous SNV NM_024646 exon5 c.G1194A p.G398G 0.714856 0.9792 0.573658 0.5462 0.9674 Uncertain 1_53271225_T->C 1 53271225 53271225 T C snp 920.77 1/1 66 37 0 37 1.0 intronic rs487453 ZYG11B AU NM_024646 exon10 c.75486+3414T>C 0.527556 0.6081 Uncertain 1_53323492_C->A 1 53323492 53323492 C A snp 1421.77 1/1 99 46 0 46 1.0 intronic rs10788945 ZYG11A AU NM_001004339 exon3 c.14866+71C>A 0.90595 0.8353 Uncertain 1_53364909_AA->- 1 53364909 53364910 AA - indel 4206.73 0/1 99 207 102 105 0.51 intronic rs3216045 ECHDC2 AU NM_018281 exon3 c.2705+13_2705+14delAA 0.122804 0.2044 0.096870 0.0651 0.1896 Uncertain 1_53364976_A->G 1 53364976 53364976 A G snp 1330.77 0/1 99 112 62 50 0.45 intronic rs576891 ECHDC2 AU NM_018281 exon3 c.2705+80A>G 0.588059 0.256 Uncertain 1_53377629_C->A 1 53377629 53377629 C A snp 30.77 0/1 59 7 5 2 0.29 intronic rs76269507 ECHDC2 AU NM_001198962 exon7 c.15271+167C>A 0.0409345 0.1915 Uncertain 1_53383320_T->C 1 53383320 53383320 T C snp 605.77 0/1 99 67 37 30 0.45 intronic rs74482100 ECHDC2 AU NM_001198962 exon8 c.25033-3904T>C 0.0541134 0.1925 0.0464 0.1377 Uncertain 1_53442376_A->G 1 53442376 53442376 A G snp 595.77 0/1 99 43 17 26 0.6 exonic rs41294530 SCP2 AR synonymous SNV NM_002979 exon8 c.A609G p.E203E 0.096246 0.2034 0.062827 0.0537 0.1903 Uncertain 1_53453640_A->G 1 53453640 53453640 A G snp 351.78 1/1 27 10 0 10 1.0 intronic rs7528565 SCP2 AR NM_001193617 exon10 c.37230-60A>G 0.395767 0.378 Uncertain 1_53453683_C->T 1 53453683 53453683 C T snp 776.77 1/1 57 25 0 25 1.0 intronic rs7516939 SCP2 AR NM_001193617 exon10 c.37230-17C>T 0.402157 0.378 0.310058 0.2220 0.3503 Uncertain 1_53480745_G->A 1 53480745 53480745 G A snp 1666.77 1/1 99 66 0 66 1.0 intronic rs7529265 SCP2 AR NM_001193617 exon11 c.64245+30G>A 0.207668 0.3383 0.129479 0.1280 0.3195 Uncertain 1_53493540_T->C 1 53493540 53493540 T C snp 143.03 1/1 12 5 0 5 1.0 intronic rs17107639 SCP2 AR NM_001193617 exon12 c.77170-100T>C 0.201677 0.3403 Uncertain 1_53493625_A->G 1 53493625 53493625 A G snp 1164.77 1/1 84 38 0 38 1.0 intronic rs17107640 SCP2 AR NM_001193617 exon12 c.77170-15A>G 0.201478 0.3393 0.122251 0.1374 0.3323 Uncertain 1_53493822_G->T 1 53493822 53493822 G T snp 2401.77 1/1 99 95 0 95 1.0 intronic rs17107643 SCP2 AR NM_001193617 exon12 c.77273+79G>T 0.201478 0.3393 Uncertain 1_53527948_T->G 1 53527948 53527948 T G snp 1262.77 1/1 87 55 0 55 1.0 exonic rs7513730 PODN AU synonymous SNV NM_001199082 exon1 c.T57G p.P19P 0.407348 0.3819 0.261065 0.3810 0.4509 Uncertain 1_53527996_A->G 1 53527996 53527996 A G snp 860.77 1/1 63 30 0 30 1.0 intronic rs56054926 PODN AU NM_153703 exon1 c.89+16A>G 0.407149 0.3819 0.164865 0.2575 0.2991 Uncertain 1_53532535_G->C 1 53532535 53532535 G C snp 1480.77 0/1 99 106 40 66 0.62 exonic rs17107806 PODN AU nonsynonymous SNV NM_001199081 exon2 c.G28C p.A10P 0.128794 0.1786 0.0488 0.1967 0 D 0.0 P -1.054 T 0.118 T 0.087 T Pathogenic 1_53535443_G->A 1 53535443 53535443 G A snp 281.77 0/1 88 16 5 11 0.69 intronic rs1531703 PODN AU NM_153703 exon2 c.7581-29G>A 0.0603035 0.2054 0.030283 0.0875 0.2963 Uncertain 1_53535478_G->A 1 53535478 53535478 G A snp 362.77 0/1 93 19 5 14 0.74 exonic rs1288386 PODN AU nonsynonymous SNV NM_001199082 exon2 c.G95A p.R32H 0.357428 0.5536 0.340798 0.5010 0.6319 0.35 T 0.0 P -0.907 T 0.345 T 0.02 T Pathogenic 1_53535859_T->C 1 53535859 53535859 T C snp 1394.77 0/1 99 122 60 62 0.51 intronic rs2275451 PODN AU NM_153703 exon2 c.7948+20T>C 0.0720847 0.2004 0.022608 0.0527 0.1799 Uncertain 1_53535860_G->A 1 53535860 53535860 G A snp 1283.77 0/1 99 122 61 61 0.5 intronic rs2275452 PODN AU NM_153703 exon2 c.7948+21G>A 0.0720847 0.2004 0.025532 0.0528 0.1797 Uncertain 1_53535876_T->C 1 53535876 53535876 T C snp 1225.77 0/1 99 101 49 52 0.51 intronic rs2275453 PODN AU NM_153703 exon2 c.7948+37T>C 0.0728834 0.2004 0.044843 0.0529 0.1810 Uncertain 1_53535918_A->C 1 53535918 53535918 A C snp 660.77 0/1 99 56 30 26 0.46 intronic rs2275454 PODN AU NM_153703 exon2 c.7948+79A>C 0.0714856 0.2004 Uncertain 1_53535924_A->C 1 53535924 53535924 A C snp 629.77 0/1 99 48 23 25 0.52 intronic rs2275455 PODN AU NM_153703 exon2 c.7948+85A>C 0.0714856 0.2004 Uncertain 1_53537266_G->A 1 53537266 53537266 G A snp 3416.77 0/1 99 246 109 137 0.56 exonic rs1769316 PODN AU synonymous SNV NM_153703 exon3 c.G516A p.T172T 0.55611 0.7371 0.487235 0.5116 0.7575 Uncertain 1_53542793_G->T 1 53542793 53542793 G T snp 830.77 0/1 99 55 24 31 0.56 intronic rs899972 PODN AU NM_153703 exon6 c.14970-68G>T 0.11222 0.2192 Uncertain 1_53543112_C->G 1 53543112 53543112 C G snp 811.77 0/1 99 42 18 24 0.57 intronic rs946590 PODN AU NM_153703 exon6 c.15127+94C>G 0.833666 0.7788 Uncertain 1_53544289_C->T 1 53544289 53544289 C T snp 3173.77 0/1 99 250 131 119 0.48 exonic rs11206087 PODN AU synonymous SNV NM_001199082 exon4 c.C825T p.N275N 0.127995 0.2222 0.055897 0.0915 0.2374 Uncertain 1_53553639_CCTGCCCCTGGAGGCCTCG->- 1 53553639 53553657 CCTGCCCCTGGAGGCCTCG - indel 1625.73 0/1 99 19 11 8 0.42 UTR3 rs140025278 SLC1A7 AU 0.130591 0.244 0.043624 0.1106 0.2821 Uncertain 1_53553702_A->G 1 53553702 53553702 A G snp 1260.77 1/1 90 43 0 43 1.0 exonic rs1288400 SLC1A7 AU synonymous SNV NM_001287595 exon11 c.T1839C p.S613S 0.942891 1 0.942796 0.9828 0.9998 Uncertain 1_53554680_T->C 1 53554680 53554680 T C snp 948.77 0/1 99 99 56 43 0.43 intronic rs3816744 SLC1A7 AU NM_006671 exon2 c.971+29T>C 0.123203 0.245 0.037982 0.0902 0.2395 Uncertain 1_53556696_G->A 1 53556696 53556696 G A snp 465.77 0/1 99 52 30 22 0.42 intronic rs79161054 SLC1A7 AU NM_001287595 exon4 c.2975+41G>A 0.0333466 0.1488 0.0137 0.1719 Uncertain 1_53558270_A->G 1 53558270 53558270 A G snp 4744.77 1/1 99 165 0 165 1.0 exonic rs1288406 SLC1A7 AU synonymous SNV NM_001287597 exon6 c.T771C p.R257R 0.846046 0.9544 0.813548 0.8389 0.9595 Uncertain 1_53558357_C->G 1 53558357 53558357 C G snp 3057.77 0/1 99 250 121 129 0.52 exonic rs2279275 SLC1A7 AU synonymous SNV NM_001287597 exon6 c.G684C p.V228V 0.033147 0.1488 0.000923 0.0149 0.1623 Uncertain 1_53558366_T->C 1 53558366 53558366 T C snp 3204.83 0/1 99 250 122 128 0.51 exonic rs12129653 SLC1A7 AU synonymous SNV NM_001287597 exon6 c.A675G p.S225S 0.145567 0.247 0.060587 0.0980 0.2404 Uncertain 1_53558521_C->T 1 53558521 53558521 C T snp 1098.77 0/1 99 83 45 38 0.46 intronic rs12140504 SLC1A7 AU NM_006671 exon5 c.4779+62C>T 0.123802 0.247 Uncertain 1_53558583_-->TG 1 53558583 53558583 - TG indel 792.73 1/1 51 18 0 18 1.0 intronic rs34983198 SLC1A7 AU NM_006671 exon5 c.4779+124insTG 0.960064 1 Uncertain 1_53559247_C->T 1 53559247 53559247 C T snp 1127.77 0/1 99 104 57 47 0.45 intronic rs12045217 SLC1A7 AU NM_006671 exon6 c.5552+15C>T 0.123602 0.247 0.037000 0.1190 0.2816 Uncertain 1_53559310_T->C 1 53559310 53559310 T C snp 749.77 1/1 57 22 0 22 1.0 intronic rs11206091 SLC1A7 AU NM_006671 exon6 c.5552+78T>C 0.830671 0.9563 Uncertain 1_53568980_G->A 1 53568980 53568980 G A snp 145.77 0/1 99 10 4 6 0.6 intronic rs2242274 SLC1A7 AU NM_006671 exon7 c.15337-37G>A 0.192093 0.1925 0.197395 0.2477 0.2209 Uncertain 1_53571288_C->G 1 53571288 53571288 C G snp 408.77 1/1 33 15 1 14 0.93 intronic rs1288422 SLC1A7 AU NM_006671 exon8 c.17723-115C>G 0.964457 1 Uncertain 1_53574123_C->T 1 53574123 53574123 C T snp 468.77 1/1 36 14 0 14 1.0 UTR3 rs1769289 SLC1A7 AU 0.965256 1 Uncertain 1_53580396_C->G 1 53580396 53580396 C G snp 544.77 0/1 99 51 27 24 0.47 intronic rs3737988 SLC1A7 AU NM_006671 exon9 c.26749-33C>G 0.0289537 0.1062 0.002153 0.0192 0.1144 Uncertain 1_53600078_A->G 1 53600078 53600078 A G snp 991.77 0/1 99 89 46 43 0.48 exonic rs3737989 SLC1A7 AU synonymous SNV NM_001287595 exon2 c.T159C p.P53P 0.188099 0.2907 0.158312 0.1920 0.3137 Uncertain 1_53677119_A->C 1 53677119 53677119 A C snp 43.77 0/1 70 4 2 2 0.5 intronic rs80332673 CPT2 AR,AD NM_000098 exon4 c.14376+128A>C 0.0213658 0.0357 Uncertain 1_53681782_A->C 1 53681782 53681782 A C snp 511.77 0/1 99 38 18 20 0.53 intronic rs17108139 C1orf123 AU NM_001304759 exon2 c.1398+54A>C 0.0177716 0.0357 0.008979 Uncertain 1_53684525_C->G 1 53684525 53684525 C G snp 2919.77 1/1 99 115 1 114 0.99 intronic rs436887 C1orf123 AU NM_017887 exon6 c.4208-13C>G 0.766185 0.7696 0.9991 Uncertain 1_53686210_C->T 1 53686210 53686210 C T snp 393.77 0/1 99 60 36 24 0.4 intronic rs61769597 C1orf123 AU NM_001304759 exon7 c.5911-31C>T 0.0129792 0.0139 0.006470 0.0132 0.0104 Uncertain 1_53686383_C->G 1 53686383 53686383 C G snp 137.03 1/1 12 5 0 5 1.0 upstream rs1679913 C1orf123 AU 0.797524 0.9325 Uncertain 1_53716231_G->C 1 53716231 53716231 G C snp 428.77 0/1 99 24 10 14 0.58 intronic rs61769625 LRP8 AU NM_033300 exon3 c.3672-130G>C 0.0129792 0.0139 Uncertain 1_53716416_G->A 1 53716416 53716416 G A snp 6564.77 1/1 99 240 0 240 1.0 exonic rs3737983 LRP8 AU synonymous SNV NM_004631 exon17 c.C2622T p.D874D 0.370807 0.6984 0.362448 0.4015 0.7263 Uncertain 1_53723190_G->T 1 53723190 53723190 G T snp 916.77 1/1 66 33 0 33 1.0 intronic rs869987 LRP8 AU NM_033300 exon5 c.10447+54G>T 0.385583 0.7579 Uncertain 1_53732138_C->T 1 53732138 53732138 C T snp 2785.77 1/1 99 102 0 102 1.0 intronic rs17108177 LRP8 AU NM_033300 exon11 c.19455-6C>T 0.023762 0.0665 0.007074 0.0183 0.0821 Uncertain 1_53732405_C->A 1 53732405 53732405 C A snp 74.77 0/1 67 5 2 3 0.6 intronic rs2297659 LRP8 AU NM_033300 exon11 c.19630+86C>A 0.0105831 0.0526 Uncertain 1_53738100_C->T 1 53738100 53738100 C T snp 630.77 1/1 48 16 0 16 1.0 intronic rs10788952 LRP8 AU NM_033300 exon13 c.24329+1082C>T 0.364816 0.6984 Uncertain 1_53738110_-->C 1 53738110 53738110 - C indel 288.73 0/1 99 16 5 11 0.69 intronic rs199911825 LRP8 AU NM_033300 exon13 c.24329+1092insC 0.0105831 0.0526 Uncertain 1_53738183_A->G 1 53738183 53738183 A G snp 3468.77 1/1 99 104 0 104 1.0 intronic rs7546246 LRP8 AU NM_033300 exon13 c.24329+1165A>G 0.39377 0.7599 Uncertain 1_53740567_A->G 1 53740567 53740567 A G snp 1541.77 1/1 99 48 0 48 1.0 intronic rs79638976 LRP8 AU NM_004631 exon14 c.28613-735A>G 0.0285543 0.0665 Uncertain 1_53742506_A->G 1 53742506 53742506 A G snp 1007.77 1/1 72 39 0 39 1.0 exonic rs56300220 LRP8 AU synonymous SNV NM_004631 exon5 c.T741C p.R247R 0.370008 0.6974 0.2092 0.45 Uncertain 1_53746134_G->A 1 53746134 53746134 G A snp 101.28 1/1 9 4 0 4 1.0 intronic rs1288518 LRP8 AU NM_033300 exon14 c.33569-124G>A 0.371406 0.6865 Uncertain 1_53746153_C->A 1 53746153 53746153 C A snp 189.8 0/1 21 8 1 7 0.88 intronic rs116935422 LRP8 AU NM_033300 exon14 c.33569-105C>A 0.0105831 0.0526 Uncertain 1_53755151_T->C 1 53755151 53755151 T C snp 1255.77 0/1 99 86 36 50 0.58 intronic rs12035577 LRP8 AU NM_033300 exon15 c.42549-87T>C 0.353035 0.6032 Uncertain 1_53792651_A->C 1 53792651 53792651 A C snp 2406.77 0/1 99 192 98 94 0.49 exonic rs3820198 LRP8 AU nonsynonymous SNV NM_004631 exon2 c.T138G p.D46E 0.550319 0.4841 0.517300 0.4121 0.4424 1 T 0.001 P -0.940 T 0.001 T 0.001 T ID=CM119908;DIS=Plasma cholesterol levels, association with;TAG=DP;PUB=21316997 DP Pathogenic 1_53793248_T->G 1 53793248 53793248 T G snp 56.74 1/1 6 2 0 2 1.0 intronic rs1933533 LRP8 AU NM_033300 exon17 c.80771-212T>G 0.550319 0.4841 Uncertain 1_53793511_T->C 1 53793511 53793511 T C snp 490.77 0/1 99 31 14 17 0.55 exonic rs4926972 LRP8 AU nonsynonymous SNV NM_004631 exon1 c.A74G p.Q25R 0.550319 0.4841 0.4430 0.4203 0.62 T 0.0 P -0.996 T 0.011 T 0.008 T Pathogenic 1_53930551_G->A 1 53930551 53930551 G A snp 416.77 0/1 99 49 27 22 0.45 intronic rs943514 DMRTB1 AU NM_033067 exon3 c.5394+31G>A 0.100639 0.0327 0.103798 0.0554 0.0256 Uncertain 1_53972115_G->A 1 53972115 53972115 G A snp 52.74 1/1 6 2 0 2 1.0 UTR3 rs2296760 GLIS1 AU 0.0700879 0.0228 Uncertain 1_53972205_T->C 1 53972205 53972205 T C snp 1369.77 1/1 99 41 0 41 1.0 UTR3 rs2296758 GLIS1 AU 0.510383 0.5377 Uncertain 1_53974987_G->T 1 53974987 53974987 G T snp 1324.77 1/1 96 50 0 50 1.0 intronic rs10749691 GLIS1 AU NM_147193 exon2 c.2669+27G>T 0.59385 0.5248 0.673261 0.7379 0.5378 Uncertain 1_53990321_C->T 1 53990321 53990321 C T snp 1119.77 1/1 84 31 0 31 1.0 intronic rs541224 GLIS1 AU NM_147193 exon6 c.18158-128C>T 0.78115 0.9742 Uncertain 1_53990715_T->C 1 53990715 53990715 T C snp 48.74 1/1 6 2 0 2 1.0 intronic rs492600 GLIS1 AU NM_147193 exon6 c.18269+155T>C 0.933906 0.996 Uncertain 1_54331715_C->G 1 54331715 54331715 C G snp 102.77 0/1 99 13 9 4 0.31 intronic rs1883452 YIPF1 AU NM_018982 exon3 c.6136-157C>G 0.483626 0.5685 Uncertain 1_54331763_A->G 1 54331763 54331763 A G snp 461.77 0/1 99 44 22 22 0.5 intronic rs1883453 YIPF1 AU NM_018982 exon3 c.6136-109A>G 0.53155 0.6766 Uncertain 1_54344282_C->A 1 54344282 54344282 C A snp 1118.77 0/1 99 97 44 53 0.55 intronic rs2272928 YIPF1 AU NM_018982 exon7 c.18578-32C>A 0.692891 0.8502 0.618330 0.6034 0.8626 Uncertain 1_54344619_C->T 1 54344619 54344619 C T snp 50.74 1/1 6 2 0 2 1.0 intronic rs2316993 YIPF1 AU NM_018982 exon7 c.18659+224C>T 0.430112 0.5694 Uncertain 1_54370306_G->A 1 54370306 54370306 G A snp 3987.77 1/1 99 149 0 149 1.0 intronic rs2294512 DIO1 AU NM_000792 exon2 c.10455-32G>A 0.416534 0.627 0.330535 0.3378 0.6314 Uncertain 1_54387577_T->C 1 54387577 54387577 T C snp 63.77 0/1 92 11 8 3 0.27 intronic rs12090789 HSPB11 AU NM_016126 exon1 c.117+137T>C 0.203275 0.0575 Uncertain 1_54389471_C->A 1 54389471 54389471 C A snp 308.77 0/1 99 21 9 12 0.57 intronic rs12067895 HSPB11 AU NM_016126 exon2 c.2253-105C>A 0.203275 0.0575 Uncertain 1_54389517_-->T 1 54389517 54389517 - T indel 872.73 0/1 99 49 23 26 0.53 intronic rs3830768 HSPB11 AU NM_016126 exon2 c.2253-59insT 0.228435 0.0575 0.245681 0.1505 0.0579 Uncertain 1_54394015_T->C 1 54394015 54394015 T C snp 1167.77 0/1 99 102 47 55 0.54 intronic rs78432903 HSPB11 AU NM_016126 exon3 c.6721-29T>C 0.00499201 0.0248 0.0024 0.0320 Uncertain 1_54395674_A->- 1 54395674 54395674 A - indel 122.73 0/1 76 19 7 12 0.63 intronic rs538438023 HSPB11 AU NM_016126 exon4 c.8388-37delA 0.461462 0.3978 0.3744 0.3716 Uncertain 1_54432019_G->A 1 54432019 54432019 G A snp 1305.77 0/1 99 127 70 57 0.45 exonic rs2294514 LRRC42 AU synonymous SNV NM_052940 exon7 c.G978A p.E326E 0.259784 0.0605 0.300554 0.1752 0.0580 Uncertain 1_54474472_T->C 1 54474472 54474472 T C snp 221.77 0/1 99 11 4 7 0.64 UTR3 rs6672989 LDLRAD1 AU 0.354034 0.5347 Uncertain 1_54477726_T->G 1 54477726 54477726 T G snp 103.77 0/1 97 7 3 4 0.57 intronic rs55766128 LDLRAD1 AU NM_001276395 exon3 c.1855-89T>G 0.541933 0.5942 Uncertain 1_54477873_C->T 1 54477873 54477873 C T snp 2691.77 0/1 99 226 118 108 0.48 exonic rs12042590 LDLRAD1 AU nonsynonymous SNV NM_001010978 exon4 c.G283A p.V95I 0.00359425 0.0179 0.0019 0.0264 0.14 T 0.758 D 0.710 D 0.976 D 0.741 D Pathogenic 1_54483694_C->T 1 54483694 54483694 C T snp 1130.77 0/1 99 86 38 48 0.56 intronic rs34764952 LDLRAD1 AU NM_001276395 exon5 c.7804-70C>T 0.344449 0.5565 0.319536 Uncertain 1_54561916_C->T 1 54561916 54561916 C T snp 1887.77 0/1 99 166 83 83 0.5 intronic rs7555099 TCEANC2 AU NM_153035 exon5 c.41862-41C>T 0.579872 0.6002 0.539006 0.4547 0.6073 Uncertain 1_54605318_-->GG 1 54605318 54605318 - GG indel 1337.73 0/1 99 93 47 46 0.49 exonic rs36013100 CDCP2 AU frameshift insertion NM_201546 exon4 c.1224_1225insCC p.M409fs 0.208267 0.3929 0.2278 0.4290 Pathogenic 1_54605319_-->C 1 54605319 54605319 - C indel 1861.73 0/1 99 97 45 52 0.54 exonic rs36013100 CDCP2 AU frameshift insertion NM_201546 exon4 c.1223_1224insG p.P408fs 0.479832 0.3889 0.6984 0.6180 ID=COSM291917;OCCURENCE=1(large_intestine) Pathogenic 1_54606804_C->T 1 54606804 54606804 C T snp 5269.77 1/1 99 190 0 190 1.0 exonic rs3766465 CDCP2 AU nonsynonymous SNV NM_201546 exon3 c.G730A p.G244R 0.824081 0.8681 0.824846 0.8286 0.8896 0.12 T 1.000 P -1.107 T 0.999 D 0.934 D Pathogenic 1_54607051_A->G 1 54607051 54607051 A G snp 7023.77 1/1 99 245 1 244 1.0 exonic rs671103 CDCP2 AU synonymous SNV NM_201546 exon3 c.T483C p.Y161Y 0.996605 1 0.997001 0.9992 1 Uncertain 1_54607157_G->A 1 54607157 54607157 G A snp 2944.77 1/1 99 97 0 97 1.0 intronic rs671539 CDCP2 AU NM_201546 exon2 c.1914+51G>A 0.876398 0.9742 0.847793 0.8482 0.9802 Uncertain 1_54618435_A->T 1 54618435 54618435 A T snp 2299.77 0/1 99 199 102 97 0.49 intronic rs7528345 CDCP2 AU NM_201546 exon4 c.13324-81A>T 0.646166 0.6935 Uncertain 1_54636689_A->G 1 54636689 54636689 A G snp 419.77 0/1 99 50 31 19 0.38 intergenic rs7552121 CDCP2 AU 0.140375 0.2718 Uncertain 1_54637167_T->C 1 54637167 54637167 T C snp 210.84 1/1 18 6 0 6 1.0 downstream rs625643 CYB5RL AU 0.689696 0.7153 0.7057 0.7671 Uncertain 1_54661150_C->T 1 54661150 54661150 C T snp 1586.77 0/1 99 152 78 74 0.49 exonic rs946448 CYB5RL AU nonsynonymous SNV NM_001031672 exon3 c.G140A p.R47K 0.316294 0.255 0.300385 0.3504 0.2311 0.29 T 0.007 P -0.953 T 0.159 T 0.056 T Pathogenic 1_54678305_C->G 1 54678305 54678305 C G snp 2457.77 1/1 99 80 0 80 1.0 exonic rs2275408 MRPL37 AU nonsynonymous SNV NM_016491 exon5 c.C964G p.L322V 0.0547125 0.2341 0.001615 0.0287 0.2377 0.18 T 1.000 P -1.033 T 1.0 D 0.998 D Pathogenic 1_54681920_G->C 1 54681920 54681920 G C snp 2351.77 1/1 99 91 0 91 1.0 exonic rs13571 MRPL37 AU nonsynonymous SNV NM_016491 exon6 c.G1097C p.C366S 0.583267 0.4028 0.739966 0.6806 0.4196 1 T 0.0 P -0.990 T 0.001 T 0.0 T Pathogenic 1_54686325_C->T 1 54686325 54686325 C T snp 2462.77 0/1 99 185 82 103 0.56 intergenic MRPL37 AU 1.000 N -1.005 T Uncertain 1_54703630_C->T 1 54703630 54703630 C T snp 159.77 0/1 63 7 2 5 0.71 ncRNA_exonic rs113556489 SSBP3-AS1 AU 0.107428 0.0526 Uncertain 1_54703702_C->A 1 54703702 54703702 C A snp 578.77 0/1 99 48 25 23 0.48 ncRNA_exonic rs946443 SSBP3-AS1 AU 0.115415 0.0516 0.1112 0.0593 Uncertain 1_54706733_A->G 1 54706733 54706733 A G snp 2048.77 0/1 99 186 91 95 0.51 intronic rs2297027 SSBP3 AU NM_018070 exon6 c.13829+101A>G 0.659545 0.4355 Uncertain 1_54870485_-->A 1 54870485 54870485 - A indel 1586.73 0/1 99 64 20 44 0.69 intronic rs59426527 SSBP3 AU NM_018070 exon16 c.177727-45insA 0.0974441 0.0982 0.054573 0.0854 0.1354 Uncertain 1_54871710_CGCCGC->- 1 54871710 54871715 CGCCGC - indel 574.73 0/1 99 18 8 10 0.56 UTR5 rs777834565 SSBP3 AU 0.064924 0.0205 0.0259 Uncertain 1_55014099_C->T 1 55014099 55014099 C T snp 1200.77 1/1 87 40 0 40 1.0 intronic rs299874 ACOT11 AU NM_147161 exon1 c.33+84C>T 0.751198 0.9157 0.679807 Uncertain 1_55014160_C->T 1 55014160 55014160 C T snp 491.77 1/1 36 18 0 18 1.0 intronic rs299872 ACOT11 AU NM_147161 exon1 c.33+145C>T 0.628994 0.756 Uncertain 1_55050361_C->T 1 55050361 55050361 C T snp 2212.77 0/1 99 220 121 99 0.45 exonic rs201305708 ACOT11 AU nonsynonymous SNV NM_015547 exon2 c.C67T p.R23W 0.000199681 0.001 0.0001 0.0014 0.04 T 0.554 D -1.041 T 0.539 P 0.026 P Pathogenic 1_55051663_G->A 1 55051663 55051663 G A snp 1487.77 0/1 99 130 65 65 0.5 intronic rs1172795 ACOT11 AU NM_147161 exon3 c.37595+86G>A 0.182308 0.1825 Uncertain 1_55059593_G->A 1 55059593 55059593 G A snp 2329.77 0/1 99 201 92 109 0.54 intronic rs2304307 ACOT11 AU NM_147161 exon5 c.45631-20G>A 0.0115815 0.0248 0.002691 0.0068 0.0221 Uncertain 1_55060224_G->A 1 55060224 55060224 G A snp 2926.77 0/1 99 250 124 126 0.5 splicing rs1755591 ACOT11 AU NM_147161 exon6 c.46246-4G>A 0.199081 0.1815 0.110564 0.1050 0.2085 Pathogenic 1_55060362_G->A 1 55060362 55060362 G A snp 1421.77 0/1 99 122 63 59 0.48 exonic rs1702003 ACOT11 AU nonsynonymous SNV NM_015547 exon6 c.G605A p.G202D 0.255391 0.1825 0.171536 0.1194 0.2016 0.89 T 0.0 P -0.944 T 0.0 T 0.001 T Pathogenic 1_55073719_G->A 1 55073719 55073719 G A snp 1276.77 0/1 99 96 42 54 0.56 exonic rs12403630 ACOT11 AU nonsynonymous SNV NM_015547 exon15 c.G1607A p.R536H 0.063099 0.0248 0.051899 0.0213 0.0226 0.11 T 0.000 P -1.048 T 0.019 T 0.003 T Pathogenic 1_55075993_G->A 1 55075993 55075993 G A snp 725.77 0/1 99 51 25 26 0.51 UTR3 rs3820113 ACOT11 AU 0.123802 0.2083 Uncertain 1_55076113_G->A 1 55076113 55076113 G A snp 1823.77 0/1 99 162 78 84 0.52 exonic rs4926650 FAM151A AU synonymous SNV NM_176782 exon7 c.C1056T p.S352S 0.129593 0.2083 0.035522 0.0819 0.2319 Uncertain 1_55076197_C->T 1 55076197 55076197 C T snp 890.77 0/1 99 69 38 31 0.45 exonic rs58464768 FAM151A AU synonymous SNV NM_176782 exon7 c.G972A p.T324T 0.0632987 0.0248 0.051822 0.0209 0.0223 Uncertain 1_55077973_T->C 1 55077973 55077973 T C snp 88.28 1/1 9 3 0 3 1.0 intronic rs1655529 ACOT11 AU NM_147161 exon16 c.62023+1968T>C 0.989816 1 Uncertain 1_55080613_GTGT->- 1 55080613 55080616 GTGT - indel 932.73 0/1 99 71 39 32 0.45 intronic rs147772009 ACOT11 AU NM_147161 exon16 c.62023+4608_62023+4611delGTGT 0.378594 0.5605 Uncertain 1_55080629_A->G 1 55080629 55080629 A G snp 492.77 0/1 99 54 34 20 0.37 intronic rs1702015 ACOT11 AU NM_147161 exon16 c.62023+4624A>G 0.741214 0.7431 Uncertain 1_55085499_T->C 1 55085499 55085499 T C snp 931.77 1/1 69 27 0 27 1.0 intronic rs11206396 ACOT11 AU NM_147161 exon16 c.62023+9494T>C 0.586661 0.4931 0.519683 0.5185 0.4942 Uncertain 1_55085703_G->T 1 55085703 55085703 G T snp 1611.77 0/1 99 140 70 70 0.5 intronic rs11583256 ACOT11 AU NM_147161 exon16 c.62023+9698G>T 0.0339457 0.0476 0.035753 0.0422 0.0290 Uncertain 1_55100328_T->C 1 55100328 55100328 T C snp 679.77 1/1 51 24 0 24 1.0 intronic rs6588520 ACOT11 AU NM_015547 exon17 c.86378-32T>C 0.541534 0.5565 0.4668 0.5511 Uncertain 1_55118566_C->G 1 55118566 55118566 C G snp 3646.77 1/1 99 131 0 131 1.0 ncRNA_exonic rs1655520 MROH7-TTC4 AU 0.948682 1 0.954082 0.9848 1 Uncertain 1_55119515_T->G 1 55119515 55119515 T G snp 2993.77 0/1 99 249 130 119 0.48 exonic rs1655519 MROH7 AU nonsynonymous SNV NM_001039464 exon3 c.T916G p.Y306D 0.425519 0.4157 0.354538 0.3893 0.4017 1 T 0.0 P -0.937 T 0.0 T 0.0 T Pathogenic 1_55119546_A->G 1 55119546 55119546 A G snp 6975.77 1/1 99 250 0 250 1.0 exonic rs1655518 MROH7 AU nonsynonymous SNV NM_001039464 exon3 c.A947G p.E316G 0.953075 1 0.958820 0.9873 1 1 T 0.0 P -0.993 T 0.0 T 0.0 T Pathogenic 1_55130972_C->T 1 55130972 55130972 C T snp 610.77 1/1 45 19 0 19 1.0 ncRNA_intronic rs471724 MROH7-TTC4 AU 0.865615 0.9226 0.776172 Uncertain 1_55134379_C->T 1 55134379 55134379 C T snp 2499.77 1/1 99 67 0 67 1.0 ncRNA_intronic rs627095 MROH7-TTC4 AU 0.892572 0.998 Uncertain 1_55134487_G->A 1 55134487 55134487 G A snp 3364.77 0/1 99 250 116 134 0.54 ncRNA_intronic rs478513 MROH7-TTC4 AU 0.388379 0.379 0.289387 0.3588 0.3542 Uncertain 1_55134585_A->G 1 55134585 55134585 A G snp 2597.77 0/1 99 225 116 109 0.48 exonic rs2304314 MROH7 AU nonsynonymous SNV NM_001039464 exon5 c.A1364G p.K455R 0.0327476 0.0179 0.025050 0.0242 0.0175 0.02 T 1 D -1.219 T 0.998 D 0.973 D Pathogenic 1_55136067_T->G 1 55136067 55136067 T G snp 675.77 1/1 51 19 0 19 1.0 ncRNA_intronic rs2251719 MROH7-TTC4 AU 0.92472 0.999 Uncertain 1_55136356_C->T 1 55136356 55136356 C T snp 509.77 0/1 99 23 7 16 0.7 ncRNA_intronic rs627226 MROH7-TTC4 AU 0.265974 0.3046 Uncertain 1_55136529_T->C 1 55136529 55136529 T C snp 514.77 0/1 99 68 44 24 0.35 exonic rs480963 MROH7 AU nonsynonymous SNV NM_001291332 exon5 c.T80C p.V27A 0.378994 0.372 0.277778 0.3769 0.3650 0.15 T 0.075 P -0.863 T 0.999 D 0.962 D Pathogenic 1_55139741_A->G 1 55139741 55139741 A G snp 1905.77 1/1 99 71 0 71 1.0 exonic rs570218 MROH7 AU nonsynonymous SNV NM_001291332 exon8 c.A407G p.H136R 0.909744 0.998 0.826698 0.8441 0.9997 1 T 0.000 P -1.010 T 0.0 T 0.0 T Pathogenic 1_55139912_T->G 1 55139912 55139912 T G snp 600.77 1/1 45 18 0 18 1.0 ncRNA_intronic rs12122650 MROH7-TTC4 AU 0.305112 0.3958 Uncertain 1_55144249_G->T 1 55144249 55144249 G T snp 198.77 0/1 99 10 3 7 0.7 ncRNA_intronic rs79887715 MROH7-TTC4 AU 0.0591054 0.0675 Uncertain 1_55144466_A->G 1 55144466 55144466 A G snp 1581.77 0/1 99 117 52 65 0.56 exonic rs75269200 MROH7 AU nonsynonymous SNV NM_001291332 exon9 c.A542G p.K181R 0.0563099 0.0675 0.026673 0.0250 0.0745 0.3 T 0.876 N -1.156 T 0.932 T 0.828 D Pathogenic 1_55152223_C->T 1 55152223 55152223 C T snp 554.77 0/1 99 35 18 17 0.49 ncRNA_intronic rs17110938 MROH7-TTC4 AU 0.204273 0.3075 Uncertain 1_55166842_C->T 1 55166842 55166842 C T snp 440.77 0/1 99 38 20 18 0.47 exonic rs1065173 MROH7 AU synonymous SNV NM_001291332 exon17 c.C1686T p.P562P 0.25 0.1141 0.288422 0.2815 0.1009 Uncertain 1_55167773_T->A 1 55167773 55167773 T A snp 2835.77 1/1 99 101 0 101 1.0 exonic rs646356 MROH7 AU nonsynonymous SNV NM_001291332 exon18 c.T1850A p.V617D 0.917931 0.9365 0.878312 0.8727 0.9364 1 T 0.000 P -0.985 T 0.0 T 0.0 T Pathogenic 1_55174819_C->T 1 55174819 55174819 C T snp 593.77 0/1 99 74 45 29 0.39 ncRNA_intronic rs12028701 MROH7-TTC4 AU 0.169329 0.3165 0.119360 Uncertain 1_55182300_T->A 1 55182300 55182300 T A snp 823.77 0/1 99 71 36 35 0.49 exonic rs1147990 TTC4 AU nonsynonymous SNV NM_004623 exon2 c.T139A p.S47T 0.668331 0.9683 0.524912 0.5990 0.9636 1 T 0.000 P -0.965 T 0.001 T 0.0 T Pathogenic 1_55197149_T->C 1 55197149 55197149 T C snp 1439.77 0/1 99 148 84 64 0.43 ncRNA_intronic rs3815226 MROH7-TTC4 AU 0.255192 0.5347 0.155620 0.2449 0.5417 Uncertain 1_55247518_C->A 1 55247518 55247518 C A snp 141.77 0/1 92 8 3 5 0.63 intronic rs3815225 TTC22 AU NM_001114108 exon1 c.537+66C>A 0.282748 0.4762 Uncertain 1_55250684_A->G 1 55250684 55250684 A G snp 43.77 0/1 72 4 2 2 0.5 UTR3 rs2286202 TTC22 AU 0.287939 0.4921 Uncertain 1_55251689_T->C 1 55251689 55251689 T C snp 1631.77 1/1 99 54 0 54 1.0 exonic rs586462 TTC22 AU synonymous SNV NM_001114108 exon5 c.A987G p.E329E 0.999002 1 0.997155 0.9993 1 Uncertain 1_55253346_G->A 1 55253346 55253346 G A snp 823.77 0/1 99 65 31 34 0.52 intronic rs2269999 TTC22 AU NM_017904 exon4 c.2165-37G>A 0.329473 0.4702 0.259707 0.3128 0.5227 Uncertain 1_55253575_T->C 1 55253575 55253575 T C snp 2052.77 1/1 99 69 0 69 1.0 intronic rs665118 TTC22 AU NM_017904 exon4 c.2281+76T>C 1 1 Uncertain 1_55253594_G->A 1 55253594 55253594 G A snp 1741.77 1/1 99 57 0 57 1.0 intronic rs2269998 TTC22 AU NM_017904 exon4 c.2281+95G>A 0.261781 0.5149 Uncertain 1_55266845_C->T 1 55266845 55266845 C T snp 4341.77 1/1 99 160 1 159 0.99 UTR5 rs1147984 TTC22 AU 0.4998 0.2788 0.579038 0.5682 0.2809 Uncertain 1_55271774_A->G 1 55271774 55271774 A G snp 1668.77 1/1 99 58 0 58 1.0 UTR5 rs757581 C1orf177 AU 0.55012 0.3988 0.583076 0.6244 0.4596 Uncertain 1_55273580_G->T 1 55273580 55273580 G T snp 3865.77 1/1 99 150 1 149 0.99 exonic rs9782980 C1orf177 AU nonsynonymous SNV NM_001110533 exon4 c.G376T p.G126C 0.498003 0.2708 0.568199 0.5604 0.2698 0 D 1.000 P -0.903 T 1.0 D 0.999 D Pathogenic 1_55277430_T->A 1 55277430 55277430 T A snp 478.77 1/1 36 12 0 12 1.0 intronic rs10788986 C1orf177 AU NM_152607 exon5 c.5677-36T>A 0.47524 0.2411 0.560049 0.5548 0.2351 Uncertain 1_55277599_T->C 1 55277599 55277599 T C snp 4245.77 1/1 99 152 0 152 1.0 exonic rs600499 C1orf177 AU nonsynonymous SNV NM_001110533 exon5 c.T613C p.Y205H 1 1 0.999923 1.0000 1 0.58 T 0.0 P -1.023 T 0.0 T 0.0 T Pathogenic 1_55279346_CCGGCCT->- 1 55279346 55279352 CCGGCCT - indel 1003.73 1/1 33 11 0 11 1.0 intronic rs149536795 C1orf177 AU NM_152607 exon7 c.7697-140_7697-134delCCGGCCT 0.940695 0.9355 Uncertain 1_55279744_G->T 1 55279744 55279744 G T snp 137.77 0/1 99 11 6 5 0.45 intronic rs602067 C1orf177 AU NM_152607 exon7 c.7859+96G>T 0.207668 0.3224 Uncertain 1_55282556_A->G 1 55282556 55282556 A G snp 355.77 0/1 99 30 18 12 0.4 intronic rs733168 C1orf177 AU NM_152607 exon9 c.10872-105A>G 0.578275 0.4474 Uncertain 1_55307501_A->G 1 55307501 55307501 A G snp 2148.77 0/1 99 213 116 97 0.46 exonic rs41297871 C1orf177 AU synonymous SNV NM_001110533 exon10 c.A1212G p.G404G 0.230431 0.4405 0.194919 0.2272 0.5100 Uncertain 1_55307640_C->T 1 55307640 55307640 C T snp 442.77 0/1 99 39 23 16 0.41 UTR3 rs59138759 C1orf177 AU 0.228235 0.4395 Uncertain 1_55318108_C->T 1 55318108 55318108 C T snp 1724.77 0/1 99 150 80 70 0.47 intronic rs667222 DHCR24 AR NM_014762 exon1 c.154+49C>T 0.372604 0.5833 0.333308 0.3360 0.6058 Uncertain 1_55319008_T->C 1 55319008 55319008 T C snp 592.77 0/1 99 56 34 22 0.39 intronic rs631749 DHCR24 AR NM_014762 exon2 c.1201-98T>C 0.433107 0.5833 Uncertain 1_55319902_A->G 1 55319902 55319902 A G snp 1199.77 0/1 99 122 67 55 0.45 exonic rs718265 DHCR24 AR synonymous SNV NM_014762 exon7 c.T1026C p.I342I 0.627596 0.4167 0.666154 0.6651 0.3970 Uncertain 1_55330966_T->C 1 55330966 55330966 T C snp 1491.77 1/1 99 42 0 42 1.0 intronic rs611057 DHCR24 AR NM_014762 exon4 c.13070-9T>C 0.988618 1 0.987929 0.9968 1 Uncertain 1_55473043_G->A 1 55473043 55473043 G A snp 307.77 0/1 99 18 6 12 0.67 intronic rs6687801 BSND AR NM_057176 exon3 c.8086+98G>A 0.439297 0.2222 Uncertain 1_55474325_A->C 1 55474325 55474325 A C snp 2396.77 0/1 99 223 117 106 0.48 UTR3 rs6682884 BSND AR 0.36242 0.3343 0.446486 0.3755 0.2970 Uncertain 1_55474476_C->G 1 55474476 55474476 C G snp 324.77 0/1 99 23 10 13 0.57 downstream rs4339899 BSND AR 0.429912 0.3294 Uncertain 1_55505732_A->G 1 55505732 55505732 A G snp 2600.77 1/1 99 95 0 95 1.0 intronic rs2495482 PCSK9 AU NM_174936 exon1 c.207+15A>G 0.908546 0.9444 0.911640 0.9370 0.9410 Uncertain 1_55516781_G->T 1 55516781 55516781 G T snp 2913.77 1/1 99 109 0 109 1.0 intronic rs599037 PCSK9 AU NM_174936 exon4 c.12440-1169G>T 0.973243 1 Uncertain 1_55517861_C->G 1 55517861 55517861 C G snp 568.77 0/1 99 48 27 21 0.44 intronic rs613855 PCSK9 AU NM_174936 exon4 c.12440-89C>G 0.488818 0.7956 Uncertain 1_55517883_C->G 1 55517883 55517883 C G snp 795.77 0/1 99 73 41 32 0.44 intronic rs624612 PCSK9 AU NM_174936 exon4 c.12440-67C>G 0.421326 0.751 Uncertain 1_55518166_G->A 1 55518166 55518166 G A snp 502.77 0/1 99 35 17 18 0.51 intronic rs625619 PCSK9 AU NM_174936 exon4 c.12574+82G>A 0.549321 0.8046 Uncertain 1_55518191_C->- 1 55518191 55518191 C - indel 331.73 0/1 99 27 10 17 0.63 intronic rs397735050 PCSK9 AU NM_174936 exon4 c.12574+107delC Uncertain 1_55518316_C->T 1 55518316 55518316 C T snp 334.77 0/1 99 59 43 16 0.27 intronic rs2483205 PCSK9 AU NM_174936 exon5 c.12812-6C>T 0.394169 0.1964 0.458173 0.4276 0.2256 CLINSIG=non-pathogenic;CLNDBN=Familial_hypercholesterolemia;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000030351.1;CLNDSDB=MedGen:OMIM:OMIM:SNOMED_CT:SNOMED_CT;CLNDSDBID=C0020445:143890:144400:397915002:398036000 Uncertain 1_55518467_A->G 1 55518467 55518467 A G snp 708.77 0/1 99 59 28 31 0.53 splicing rs2495477 PCSK9 AU NM_174936 exon5 c.12954+3A>G 0.466254 0.2272 0.504153 0.4311 0.2630 Pathogenic 1_55518528_C->A 1 55518528 55518528 C A snp 414.77 0/1 99 29 12 17 0.59 intronic rs494198 PCSK9 AU NM_174936 exon5 c.12954+64C>A 0.629193 0.8026 Uncertain 1_55523033_A->G 1 55523033 55523033 A G snp 3009.77 1/1 99 106 0 106 1.0 exonic rs509504 PCSK9 AU synonymous SNV NM_174936 exon7 c.A1026G p.Q342Q 0.981829 1 0.979702 0.9945 1 Uncertain 1_55524116_C->T 1 55524116 55524116 C T snp 274.8 1/1 21 10 0 10 1.0 intronic rs585131 PCSK9 AU NM_174936 exon9 c.18661-55C>T 0.869209 0.9881 Uncertain 1_55524197_A->G 1 55524197 55524197 A G snp 496.77 1/1 36 21 0 21 1.0 exonic rs540796 PCSK9 AU synonymous SNV NM_174936 exon9 c.A1380G p.V460V 0.869209 0.9881 0.817776 0.8544 0.9914 0.16 T 0.037 P -1.013 T Likely benign 1_55524237_G->A 1 55524237 55524237 G A snp 480.77 1/1 36 19 0 19 1.0 exonic rs562556 PCSK9 AU nonsynonymous SNV NM_174936 exon9 c.G1420A p.V474I 0.86901 0.9881 0.817776 0.8544 0.9914 0.29 T 0.0 P -0.970 T 0.013 T 0.002 T ID=CM045990;DIS=High LDL cholesterol, association with;TAG=DP;PUB=14727156 DP Pathogenic 1_55525400_G->A 1 55525400 55525400 G A snp 99.28 1/1 9 3 0 3 1.0 intronic rs483462 PCSK9 AU NM_174936 exon10 c.19826+64G>A 0.674321 0.873 Uncertain 1_55527323_G->A 1 55527323 55527323 G A snp 1606.77 1/1 99 54 0 54 1.0 intronic rs630431 PCSK9 AU NM_174936 exon11 c.21719+94G>A 0.674521 0.872 Uncertain 1_55529187_G->A 1 55529187 55529187 G A snp 2725.77 1/1 99 91 0 91 1.0 exonic rs505151 PCSK9 AU nonsynonymous SNV NM_174936 exon12 c.G2009A p.G670E 0.898962 0.9603 0.889436 0.9433 0.9460 1 T 0.000 P -0.976 T 0.0 T 0.0 T CLINSIG=non-pathogenic;CLNDBN=Familial_hypercholesterolemia;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000030349.1;CLNDSDB=MedGen:OMIM:OMIM:SNOMED_CT:SNOMED_CT;CLNDSDBID=C0020445:143890:144400:397915002:398036000 ID=CM051950;DIS=Atherosclerosis, severity, association with;TAG=DP;PUB=15893176 DP Pathogenic 1_55538385_T->C 1 55538385 55538385 T C snp 1992.77 1/1 99 64 0 64 1.0 intronic rs654674 USP24 AU NM_015306 exon4 c.3741-73T>C 0.908746 0.997 Uncertain 1_55541174_A->G 1 55541174 55541174 A G snp 1396.77 1/1 99 49 0 49 1.0 exonic rs487230 USP24 AU nonsynonymous SNV NM_015306 exon63 c.T7403C p.V2468A 0.692292 0.9187 0.640088 0.7697 0.9040 0.86 T 0.305 P -1.024 T 0.0 T 0.001 T Pathogenic 1_55545515_C->G 1 55545515 55545515 C G snp 99.28 1/1 9 3 0 3 1.0 intronic rs550336 USP24 AU NM_015306 exon9 c.10615+183C>G 0.802716 0.9593 Uncertain 1_55546895_T->C 1 55546895 55546895 T C snp 819.77 1/1 63 23 0 23 1.0 intronic rs683880 USP24 AU NM_015306 exon10 c.12277-99T>C 0.691494 0.9196 Uncertain 1_55555285_G->A 1 55555285 55555285 G A snp 1078.77 1/1 78 37 0 37 1.0 intronic rs548852 USP24 AU NM_015306 exon14 c.20582-14G>A 0.691294 0.9196 0.636014 0.7701 0.9013 Uncertain 1_55557540_T->C 1 55557540 55557540 T C snp 139.03 1/1 12 4 0 4 1.0 intronic rs667353 USP24 AU NM_015306 exon15 c.22978-155T>C 0.560304 0.7917 Uncertain 1_55557859_-->TT 1 55557859 55557859 - TT indel 458.74 1/1 27 9 0 9 1.0 intronic rs34673217 USP24 AU NM_015306 exon15 c.23082+60insTT 0.908746 0.997 Uncertain 1_55557864_C->T 1 55557864 55557864 C T snp 216.84 1/1 18 6 0 6 1.0 intronic rs3736992 USP24 AU NM_015306 exon15 c.23082+65C>T 0.691494 0.9196 Uncertain 1_55558661_A->G 1 55558661 55558661 A G snp 129.03 1/1 12 4 0 4 1.0 intronic rs585203 USP24 AU NM_015306 exon16 c.23872+72A>G 0.692292 0.9196 Uncertain 1_55560796_T->C 1 55560796 55560796 T C snp 296.78 1/1 24 8 0 8 1.0 intronic rs503495 USP24 AU NM_015306 exon18 c.26210-131T>C 0.767772 0.9593 Uncertain 1_55562125_G->T 1 55562125 55562125 G T snp 261.8 1/1 21 7 0 7 1.0 intronic rs580485 USP24 AU NM_015306 exon19 c.27453-45G>T 0.908746 0.997 0.845161 0.8483 0.9959 Uncertain 1_55566412_TAGTC->- 1 55566412 55566416 TAGTC - indel 2938.73 1/1 99 38 0 38 1.0 intronic rs2307833 USP24 AU NM_015306 exon25 c.31794-99_31794-95delTAGTC 0.76897 0.9593 Uncertain 1_55567143_T->C 1 55567143 55567143 T C snp 593.77 1/1 45 19 0 19 1.0 intronic rs1165282 USP24 AU NM_015306 exon26 c.32539-113T>C 0.909345 0.996 Uncertain 1_55567410_A->G 1 55567410 55567410 A G snp 3182.76 1/1 99 104 0 104 1.0 intronic rs615652 USP24 AU NM_015306 exon26 c.32659+34A>G 0.904353 0.997 0.853619 0.8826 0.9967 Uncertain 1_55572867_G->A 1 55572867 55572867 G A snp 2493.77 1/1 99 85 0 85 1.0 intronic rs594226 USP24 AU NM_015306 exon29 c.38194-44G>A 0.691893 0.9196 0.640301 0.7580 0.9057 Uncertain 1_55575670_A->C 1 55575670 55575670 A C snp 345.78 1/1 27 9 0 9 1.0 intronic rs534741 USP24 AU NM_015306 exon30 c.41140-187A>C 0.692492 0.9196 Uncertain 1_55590828_G->A 1 55590828 55590828 G A snp 54.74 1/1 6 2 0 2 1.0 intronic rs502793 USP24 AU NM_015306 exon35 c.56275-164G>A 0.768171 0.9593 Uncertain 1_55614037_AT->- 1 55614037 55614038 AT - indel 366.75 1/1 24 8 0 8 1.0 intronic rs34030121 USP24 AU NM_015306 exon52 c.79418-98_79418-97delAT 0.777955 0.9593 Uncertain 1_55619422_G->A 1 55619422 55619422 G A snp 171.9 1/1 15 5 0 5 1.0 intronic rs1165230 USP24 AU NM_015306 exon53 c.84825-120G>A 0.768371 0.9593 Uncertain 1_55638075_G->A 1 55638075 55638075 G A snp 4487.77 1/1 99 166 0 166 1.0 exonic rs1165222 USP24 AU nonsynonymous SNV NM_015306 exon4 c.C677T p.T226I 0.907149 0.995 0.850633 0.8763 0.9952 0.23 T 0.000 P -0.996 T 0.0 T 0.0 T ID=CM065514;DIS=Parkinson disease, risk, association with;TAG=DP;PUB=16917932 DP Pathogenic 1_55643838_A->- 1 55643838 55643838 A - indel 1771.73 1/1 99 55 0 55 1.0 intronic rs11350615 USP24 AU NM_015306 exon67 c.109088+33delA 0.903954 0.997 0.851568 0.8713 0.9984 Uncertain 1_57158051_G->A 1 57158051 57158051 G A snp 2207.77 0/1 99 205 108 97 0.47 exonic rs17848595 PRKAA2 AU synonymous SNV NM_006252 exon4 c.G351A p.R117R 0.173722 0.2252 0.094110 0.0988 0.2529 Uncertain 1_57173061_C->T 1 57173061 57173061 C T snp 374.77 0/1 99 28 12 16 0.57 intronic rs17848597 PRKAA2 AU NM_006252 exon9 c.62087-86C>T 0.0523163 0.1101 Uncertain 1_57185818_A->G 1 57185818 57185818 A G snp 1873.77 1/1 99 68 0 68 1.0 intronic rs857141 C1orf168 AU NM_001004303 exon3 c.502-27A>G 0.832668 0.8254 0.776091 0.7565 0.8374 Uncertain 1_57216631_T->C 1 57216631 57216631 T C snp 630.77 0/1 99 46 23 23 0.5 intronic rs12046225 C1orf168 AU NM_001004303 exon12 c.31373-85T>C 0.116813 0.2321 Uncertain 1_57219631_-->A 1 57219631 57219631 - A indel 620.73 1/1 63 28 0 28 1.0 intronic rs11404547 C1orf168 AU NM_001004303 exon13 c.34265+23insA 0.839856 0.9425 0.753197 0.7359 0.9417 Uncertain 1_57221553_G->T 1 57221553 57221553 G T snp 3066.77 1/1 99 113 6 107 0.95 intronic rs1774808 C1orf168 AU NM_001004303 exon14 c.36225-15G>T 0.826078 0.9335 0.040526 0.7302 0.9292 Uncertain 1_57224460_G->C 1 57224460 57224460 G C snp 3555.77 1/1 99 135 0 135 1.0 intronic rs857103 C1orf168 AU NM_001004303 exon15 c.39080+37G>C 0.827276 0.9345 0.727994 0.7195 0.9306 Uncertain 1_57340860_G->A 1 57340860 57340860 G A snp 464.77 1/1 36 13 0 13 1.0 intronic rs2269118 C8A AR NM_000562 exon3 c.20192+94G>A 0.242013 0.3452 Uncertain 1_57349407_A->T 1 57349407 57349407 A T snp 1388.77 1/1 99 39 0 39 1.0 intronic rs6694643 C8A AR NM_000562 exon6 c.28780+53A>T 0.211062 0.3393 Uncertain 1_57349464_T->C 1 57349464 57349464 T C snp 345.78 1/1 27 9 0 9 1.0 intronic rs6697228 C8A AR NM_000562 exon6 c.28780+110T>C 0.211062 0.3393 Uncertain 1_57372591_C->T 1 57372591 57372591 C T snp 924.77 1/1 69 31 0 31 1.0 intronic rs619545 C8A AR NM_000562 exon8 c.51891+126C>T 0.863818 0.997 Uncertain 1_57395251_T->C 1 57395251 57395251 T C snp 4455.77 1/1 99 173 0 173 1.0 intronic rs605648 C8B AR NM_001278544 exon1 c.155+20T>C 0.880391 0.9306 0.829694 0.8822 0.9388 Uncertain 1_57395434_C->G 1 57395434 57395434 C G snp 180.9 1/1 15 6 0 6 1.0 intronic rs2281598 C8B AR NM_001278544 exon1 c.155+203C>G 0.176717 0.3462 Uncertain 1_57406392_T->C 1 57406392 57406392 T C snp 493.77 1/1 39 16 0 16 1.0 intronic rs6669836 C8B AR NM_001278544 exon4 c.11445-129T>C 0.388179 0.4038 Uncertain 1_57422484_C->T 1 57422484 57422484 C T snp 5933.77 1/1 99 205 0 205 1.0 exonic rs1013579 C8B AR nonsynonymous SNV NM_000066 exon3 c.G349A p.G117R 0.986422 1 0.975780 0.9773 0.9999 0.8 T 0.000 P -0.949 T 0.0 T 0.0 T Pathogenic 1_57477034_G->C 1 57477034 57477034 G C snp 82.77 0/1 99 17 13 4 0.24 intronic rs697580 DAB1 AU NM_021080 exon3 c.578+89G>C 0.336262 0.3185 Uncertain 1_57489137_T->C 1 57489137 57489137 T C snp 255.77 0/1 99 21 12 9 0.43 intronic rs3738558 DAB1 AU NM_021080 exon5 c.12836-66T>C 0.205272 0.3204 Uncertain 1_57528772_A->G 1 57528772 57528772 A G snp 1571.77 1/1 99 51 0 51 1.0 intronic rs1261611 DAB1 AU NM_021080 exon7 c.52249+156A>G 0.871805 0.87 Uncertain 1_57535198_C->A 1 57535198 57535198 C A snp 689.77 0/1 99 60 33 27 0.45 intronic rs3738556 DAB1 AU NM_021080 exon8 c.58731+100C>A 0.297324 0.4544 Uncertain 1_57602383_T->C 1 57602383 57602383 T C snp 1962.77 0/1 99 174 87 87 0.5 intronic rs563921 DAB1 AU NM_021080 exon12 c.125947+69T>C 0.393171 0.2312 Uncertain 1_58996203_T->C 1 58996203 58996203 T C snp 1347.77 0/1 99 99 47 52 0.53 intronic rs2271004 OMA1 AU NM_145243 exon4 c.49636-69T>C 0.157947 0.1706 Uncertain 1_59004979_C->T 1 59004979 59004979 C T snp 1412.77 1/1 99 52 0 52 1.0 UTR5 rs902925 OMA1 AU 0.975439 1 0.975085 0.9929 1 Uncertain 1_59125894_A->G 1 59125894 59125894 A G snp 182.77 0/1 99 17 9 8 0.47 intronic rs12092264 MYSM1 AU NM_001085487 exon1 c.159+67A>G 0.344449 0.4117 Uncertain 1_59125899_G->A 1 59125899 59125899 G A snp 118.77 0/1 99 13 7 6 0.46 intronic rs12082192 MYSM1 AU NM_001085487 exon1 c.159+72G>A 0.344449 0.4117 Uncertain 1_59126616_A->G 1 59126616 59126616 A G snp 52.74 1/1 6 2 0 2 1.0 intronic rs232778 MYSM1 AU NM_001085487 exon2 c.1173-225A>G 0.914537 0.9365 Uncertain 1_59126676_A->C 1 59126676 59126676 A C snp 535.77 1/1 42 14 0 14 1.0 intronic rs232779 MYSM1 AU NM_001085487 exon2 c.1173-165A>C 0.914736 0.9365 Uncertain 1_59127024_T->G 1 59127024 59127024 T G snp 975.77 0/1 99 91 51 40 0.44 intronic rs4912364 MYSM1 AU NM_001085487 exon3 c.1409-53T>G 0.340455 0.4127 Uncertain 1_59127086_G->A 1 59127086 59127086 G A snp 1113.77 0/1 99 100 53 47 0.47 exonic rs7523134 MYSM1 AU synonymous SNV NM_001085487 exon18 c.C2262T p.L754L 0.247804 0.3095 0.257186 0.2821 0.2790 Uncertain 1_59127193_C->T 1 59127193 59127193 C T snp 383.77 0/1 99 49 32 17 0.35 intronic rs7525365 MYSM1 AU NM_001085487 exon3 c.1515+10C>T 0.240016 0.3095 0.248901 0.2828 0.2814 Uncertain 1_59131311_G->T 1 59131311 59131311 G T snp 1494.77 1/1 99 52 0 52 1.0 intronic rs232790 MYSM1 AU NM_001085487 exon4 c.5635+8G>T 0.895168 0.9365 0.864798 0.8933 0.9303 Uncertain 1_59134586_G->C 1 59134586 59134586 G C snp 1213.77 0/1 99 100 52 48 0.48 intronic rs11207284 MYSM1 AU NM_001085487 exon8 c.8987-69G>C 0.366623 Uncertain 1_59134607_-->AG 1 59134607 59134607 - AG indel 4786.73 1/1 99 89 0 89 1.0 intronic rs57822474 MYSM1 AU NM_001085487 exon8 c.8987-48insAG 0.987021 1 0.9807 0.9995 Uncertain 1_59137783_A->G 1 59137783 59137783 A G snp 302.77 0/1 99 16 6 10 0.63 intronic rs539141 MYSM1 AU NM_001085487 exon9 c.11962+153A>G 0.647963 0.628 Uncertain 1_59139223_C->G 1 59139223 59139223 C G snp 2833.77 0/1 99 250 115 135 0.54 intronic rs2064370 MYSM1 AU NM_001085487 exon10 c.13576-21C>G 0.582069 0.628 0.549975 0.5978 0.6544 Uncertain 1_59142713_T->C 1 59142713 59142713 T C snp 681.77 0/1 99 66 38 28 0.42 exonic rs579110 MYSM1 AU synonymous SNV NM_001085487 exon9 c.A1275G p.P425P 0.647364 0.629 0.607137 0.6118 0.6532 Uncertain 1_59147420_G->A 1 59147420 59147420 G A snp 427.77 0/1 99 27 10 17 0.63 intronic rs11207292 MYSM1 AU NM_001085487 exon13 c.21788-36G>A 0.582268 0.629 0.545423 0.6047 0.6474 Uncertain 1_59147926_T->C 1 59147926 59147926 T C snp 2144.77 0/1 99 220 122 98 0.45 exonic rs12139511 MYSM1 AU nonsynonymous SNV NM_001085487 exon8 c.A790G p.T264A 0.631989 0.629 0.591938 0.6078 0.6527 0.8 T 0.0 P -0.946 T 0.0 T 0.0 T Pathogenic 1_59150941_G->A 1 59150941 59150941 G A snp 483.77 1/1 36 20 0 20 1.0 intronic rs2206764 MYSM1 AU NM_001085487 exon14 c.25255+18G>A 0.728834 0.7897 0.8994 0.9311 Uncertain 1_59156155_C->T 1 59156155 59156155 C T snp 388.77 0/1 99 33 14 19 0.58 intronic rs12076049 MYSM1 AU NM_001085487 exon17 c.30421+66C>T 0.581869 0.628 Uncertain 1_59158632_T->C 1 59158632 59158632 T C snp 632.77 0/1 99 48 20 28 0.58 intronic rs12097333 MYSM1 AU NM_001085487 exon18 c.32935+29T>C 0.581869 0.628 0.545121 0.5947 0.6532 Uncertain 1_59160725_A->- 1 59160725 59160725 A - indel 196.86 0/1 2 20 2 18 0.9 intronic rs397980294 MYSM1 AU NM_001085487 exon19 c.35132-75delA 0.569888 0.619 Uncertain 1_59160735_A->G 1 59160735 59160735 A G snp 408.77 0/1 99 27 11 16 0.59 intronic rs2473746 MYSM1 AU NM_001085487 exon19 c.35132-65A>G 0.333866 0.372 Uncertain 1_59160885_A->G 1 59160885 59160885 A G snp 953.77 0/1 99 62 24 38 0.61 splicing rs2064374 MYSM1 AU NM_001085487 exon19 c.35211+6A>G 0.368211 0.372 0.407789 0.4058 0.3574 Pathogenic 1_59160983_TACT->- 1 59160983 59160986 TACT - indel 1455.73 0/1 99 38 11 27 0.71 intronic rs34580410 MYSM1 AU NM_001085487 exon19 c.35211+104_35211+107delTACT 0.368011 0.372 Uncertain 1_59165838_T->G 1 59165838 59165838 T G snp 316.77 0/1 86 14 3 11 0.79 upstream rs11207297 MYSM1 AU 0.334265 0.3938 Uncertain 1_59248813_G->C 1 59248813 59248813 G C snp 2427.77 1/1 99 76 0 76 1.0 UTR5 rs2760499 JUN AU 0.951877 1 Uncertain 1_59251097_T->G 1 59251097 59251097 T G snp 221.77 0/1 99 16 9 7 0.44 ncRNA_intronic rs2760501 LINC01135 AU 0.358027 0.1657 ID=CR115661;DIS=Colorectal cancer, increased risk, association with;TAG=DFP;PUB=21393476 DFP Uncertain 1_59364615_G->C 1 59364615 59364615 G C snp 939.77 0/1 99 69 29 40 0.58 ncRNA_intronic rs11207326 LINC01135 AU 0.322883 0.4276 Uncertain 1_59364918_G->A 1 59364918 59364918 G A snp 443.77 0/1 99 39 21 18 0.46 ncRNA_exonic rs6658104 LINC01135 AU 0.408946 0.497 0.4470 0.4926 Uncertain 1_59787350_T->G 1 59787350 59787350 T G snp 2017.77 1/1 99 73 0 73 1.0 exonic rs835409 FGGY AU nonsynonymous SNV NM_001113411 exon2 c.T129G p.N43K 0.467252 0.4782 0.391921 0.4018 0.5190 1.000 P -0.931 T 0.0 T 0.0 T Pathogenic 1_59844471_G->A 1 59844471 59844471 G A snp 6454.77 1/1 99 241 0 241 1.0 exonic rs835435 FGGY AU synonymous SNV NM_001244714 exon3 c.G252A p.P84P 0.493211 0.4266 0.461781 0.4233 0.4865 Uncertain 1_60223460_A->G 1 60223460 60223460 A G snp 288.78 1/1 24 11 0 11 1.0 intronic rs590704 FGGY AU NM_018291 exon15 c.436381-142A>G 0.341454 0.2817 Uncertain 1_60228310_-->TC 1 60228310 60228310 - TC indel 7115.73 1/1 99 142 0 142 1.0 UTR3 rs10626387 FGGY AU 0.855232 0.997 0.807219 Uncertain 1_60280750_T->- 1 60280750 60280750 T - indel 11179.7 1/1 99 249 0 249 1.0 UTR5 rs113730234 HOOK1 AU 1 1 0.999636 1 1 Uncertain 1_60299820_C->G 1 60299820 60299820 C G snp 4319.77 1/1 99 163 0 163 1.0 intronic rs618716 HOOK1 AU NM_015888 exon5 c.18420+611C>G 0.958466 0.9633 Uncertain 1_60373775_T->C 1 60373775 60373775 T C snp 54.74 1/1 6 2 0 2 1.0 intronic rs1155002 CYP2J2 AU NM_000775 exon4 c.14277+176T>C 0.723642 0.6796 Uncertain 1_60377373_G->A 1 60377373 60377373 G A snp 1795.77 0/1 99 161 80 81 0.5 exonic rs76900855 CYP2J2 AU synonymous SNV NM_000775 exon4 c.C591T p.F197F 0.00119808 0.006 0.0007 0.0090 Uncertain 1_60466912_CAG->- 1 60466912 60466914 CAG - indel 1319.73 1/1 69 23 0 23 1.0 intronic rs34585993 C1orf87 AU NM_152377 exon3 c.10484+84_10484+86delCAG Uncertain 1_60475930_C->G 1 60475930 60475930 C G snp 3208.76 1/1 99 112 0 112 1.0 intronic rs616949 C1orf87 AU NM_152377 exon4 c.19719-133C>G 0.640775 0.4345 Uncertain 1_60503594_C->T 1 60503594 60503594 C T snp 2050.77 1/1 99 72 0 72 1.0 intronic rs72669614 C1orf87 AU NM_152377 exon7 c.47319-69C>T 0.121805 0.2103 Uncertain 1_60505578_A->G 1 60505578 60505578 A G snp 1868.77 1/1 99 59 0 59 1.0 intronic rs680390 C1orf87 AU NM_152377 exon8 c.49244-10A>G 0.852037 0.7004 0.905707 0.8704 0.7592 Uncertain 1_60505783_G->C 1 60505783 60505783 G C snp 5453.77 1/1 99 201 0 201 1.0 exonic rs12737449 C1orf87 AU nonsynonymous SNV NM_152377 exon5 c.C553G p.L185V 0.11881 0.2192 0.110641 0.1370 0.2577 0.06 T 1.000 P -1.090 T 0.974 D 0.754 D Pathogenic 1_60505965_T->G 1 60505965 60505965 T G snp 1071.77 1/1 78 36 0 36 1.0 intronic rs12723322 C1orf87 AU NM_152377 exon8 c.49508+113T>G 0.123403 0.2222 Uncertain 1_60506744_G->A 1 60506744 60506744 G A snp 2467.77 1/1 99 88 0 88 1.0 exonic rs10493277 C1orf87 AU synonymous SNV NM_152377 exon4 c.C402T p.S134S 0.119609 0.2222 0.110026 0.1370 0.2594 Uncertain 1_61548519_-->G 1 61548519 61548519 - G indel 343.73 0/1 99 46 25 21 0.46 intronic rs201335260 NFIA AU NM_005595 exon1 c.27+29insG 0.0513179 0.1746 0.000821 0.0213 0.1810 Uncertain 1_61553801_C->G 1 61553801 61553801 C G snp 2608.77 1/1 99 99 0 99 1.0 intronic rs3767302 NFIA AU NM_005595 exon2 c.5357-19C>G 0.2502 0.4534 0.159370 0.1700 0.4733 Uncertain 1_61743160_G->A 1 61743160 61743160 G A snp 5360.77 1/1 99 197 0 197 1.0 intronic rs332827 NFIA AU NM_005595 exon3 c.194728-31G>A 0.35024 0.4663 0.337998 0.4430 0.4727 Uncertain 1_61818422_A->G 1 61818422 61818422 A G snp 1001.77 1/1 75 25 0 25 1.0 intronic rs7528918 NFIA AU NM_005595 exon5 c.269776+183A>G 0.884984 0.9544 Uncertain 1_61869783_G->A 1 61869783 61869783 G A snp 858.77 0/1 99 73 35 38 0.52 exonic rs2236059 NFIA AU synonymous SNV NM_005595 exon8 c.G1083A p.P361P 0.353834 0.5625 0.273566 0.3185 0.5786 Uncertain 1_61872228_-->T 1 61872228 61872228 - T indel 336.73 0/1 99 19 9 10 0.53 splicing rs764183696 NFIA AU NM_005595 exon9 c.323770-5insT 0.192962 0.0093 0.0176 Pathogenic 1_61872541_G->A 1 61872541 61872541 G A snp 956.77 0/1 99 71 38 33 0.46 intronic rs10889221 NFIA AU NM_005595 exon9 c.323936+142G>A 0.234225 0.2202 Uncertain 1_61892301_-->G 1 61892301 61892301 - G indel 9524.73 1/1 99 230 0 230 1.0 intronic rs397779589 NFIA AU NM_001134673 exon10 c.343765+73insG 0.9998 1 Uncertain 1_61921185_-->T 1 61921185 61921185 - T indel 422.73 1/1 62 33 0 33 1.0 UTR3 rs11423561 NFIA AU 0.491414 0.5833 Uncertain 1_62149330_C->T 1 62149330 62149330 C T snp 309.77 0/1 99 27 12 15 0.56 intronic TM2D1 AU NM_032027 exon2 c.111+112C>T Uncertain 1_62160542_A->G 1 62160542 62160542 A G snp 125.78 0/1 25 5 1 4 0.8 intronic rs1151765 TM2D1 AU NM_032027 exon3 c.11335+100A>G 0.928315 0.8472 Uncertain 1_62231924_-->TGA 1 62231924 62231924 - TGA indel 1072.73 1/1 57 19 0 19 1.0 intronic rs10631100 INADL AU NM_176877 exon4 c.3386-26insTGA 0.683107 0.871 0.611955 0.6741 0.8882 Uncertain 1_62232031_C->T 1 62232031 62232031 C T snp 4005.77 1/1 99 154 0 154 1.0 exonic rs1286835 INADL AU synonymous SNV NM_176877 exon4 c.C270T p.I90I 0.910144 1 0.903583 0.9636 0.9998 Uncertain 1_62232130_T->C 1 62232130 62232130 T C snp 3683.77 1/1 99 135 0 135 1.0 exonic rs11207827 INADL AU synonymous SNV NM_176877 exon4 c.T369C p.I123I 0.25639 0.369 0.270414 0.2442 0.4344 Uncertain 1_62257223_A->G 1 62257223 62257223 A G snp 56.74 1/1 6 2 0 2 1.0 intronic rs3790577 INADL AU NM_176877 exon9 c.28555+104A>G 0.447284 0.4514 Uncertain 1_62261168_A->G 1 62261168 62261168 A G snp 6143.77 1/1 99 230 2 228 0.99 exonic rs7516332 INADL AU nonsynonymous SNV NM_176877 exon10 c.A1198G p.I400V 0.434904 0.4514 0.403122 0.4909 0.4165 0.41 T 1.000 P -0.970 T 0.013 T 0.034 T Pathogenic 1_62329886_T->- 1 62329886 62329886 T - indel 401.73 0/1 99 29 14 15 0.52 intronic rs35853578 INADL AU NM_176877 exon20 c.101345-23delT 0.395567 0.1726 0.418238 0.3949 0.1918 Uncertain 1_62330080_T->G 1 62330080 62330080 T G snp 5667.77 1/1 99 205 0 205 1.0 exonic rs2799627 INADL AU nonsynonymous SNV NM_176877 exon20 c.T2610G p.I870M 0.990815 1 0.987467 0.9968 1 1 T 1.000 P -0.973 T 0.0 T 0.0 T Pathogenic 1_62330353_G->A 1 62330353 62330353 G A snp 1421.77 0/1 99 121 58 63 0.52 intronic rs2275859 INADL AU NM_176877 exon20 c.101741+48G>A 0.0836661 0.1042 0.088507 0.0799 0.1052 Uncertain 1_62340855_G->C 1 62340855 62340855 G C snp 428.77 0/1 99 26 10 16 0.62 intronic rs12753462 INADL AU NM_176877 exon21 c.112350-59G>C 0.297724 0.1617 Uncertain 1_62365183_A->G 1 62365183 62365183 A G snp 318.77 0/1 99 51 36 15 0.29 intronic INADL AU NM_176877 exon23 c.136690-71A>G Uncertain 1_62365217_C->T 1 62365217 62365217 C T snp 765.77 0/1 99 87 52 35 0.4 intronic rs1412622 INADL AU NM_176877 exon23 c.136690-37C>T 0.558307 0.4147 0.622405 0.6337 0.4123 Uncertain 1_62366878_T->G 1 62366878 62366878 T G snp 54.74 1/1 6 2 0 2 1.0 intronic rs2499002 INADL AU NM_176877 exon24 c.138389-75T>G 0.804912 0.999 Uncertain 1_62374267_T->C 1 62374267 62374267 T C snp 427.77 1/1 33 11 0 11 1.0 intronic rs2151122 INADL AU NM_176877 exon25 c.145590+113T>C 0.883387 0.999 Uncertain 1_62380124_A->G 1 62380124 62380124 A G snp 435.77 0/1 99 28 12 16 0.57 intronic rs4915789 INADL AU NM_176877 exon26 c.151694-134A>G 0.682308 0.7986 Uncertain 1_62380270_C->T 1 62380270 62380270 C T snp 4503.77 1/1 99 176 0 176 1.0 exonic rs1134766 INADL AU synonymous SNV NM_176877 exon26 c.C3504T p.N1168N 0.776957 0.7431 0.792173 0.7480 0.7420 Uncertain 1_62380298_G->A 1 62380298 62380298 G A snp 1701.77 0/1 99 163 90 73 0.45 exonic rs1056513 INADL AU nonsynonymous SNV NM_176877 exon26 c.G3532A p.G1178S 0.445088 0.5655 0.485238 0.5643 0.5659 0.79 T 0.0 P -0.959 T 0.0 T 0.001 T ID=CM1212295;DIS=Weight variance, association with;TAG=DP;PUB=23251661 DP Pathogenic 1_62393394_A->G 1 62393394 62393394 A G snp 7272.77 1/1 99 250 0 250 1.0 intronic rs2251182 INADL AU NM_176877 exon27 c.164837-7A>G 0.846645 0.8125 0.868907 0.8561 0.8328 Uncertain 1_62417925_-->GAGAGAGAGAGA 1 62417925 62417925 - GAGAGAGAGAGA indel 965.75 1/1 24 8 0 8 1.0 intronic INADL AU NM_176877 exon27 c.164937+24424insGAGAGAGAGAGA Uncertain 1_62417952_A->G 1 62417952 62417952 A G snp 1174.77 1/1 87 36 0 36 1.0 intronic rs2482877 INADL AU NM_176877 exon27 c.164937+24451A>G 0.590056 0.6171 Uncertain 1_62579672_A->C 1 62579672 62579672 A C snp 403.77 0/1 99 25 11 14 0.56 intronic rs1475564 INADL AU NM_176877 exon35 c.351160-52A>C 0.803315 0.8958 Uncertain 1_62579823_G->A 1 62579823 62579823 G A snp 1889.77 0/1 99 192 108 84 0.44 exonic rs1475563 INADL AU synonymous SNV NM_176877 exon35 c.G4560A p.E1520E 0.609026 0.754 0.620406 0.6621 0.7816 Uncertain 1_62579907_C->T 1 62579907 62579907 C T snp 1917.77 0/1 99 187 102 85 0.45 exonic rs7418709 INADL AU synonymous SNV NM_176877 exon35 c.C4644T p.I1548I 0.297524 0.7113 0.146010 0.1742 0.7347 Uncertain 1_62644118_A->G 1 62644118 62644118 A G snp 1058.77 1/1 78 37 0 37 1.0 intergenic rs2481703 INADL AU 0.720248 0.8859 0.6909 0.9091 Uncertain 1_62672546_G->A 1 62672546 62672546 G A snp 1166.77 0/1 99 118 72 46 0.39 exonic rs2457829 L1TD1 AU synonymous SNV NM_019079 exon3 c.G246A p.G82G 0.880791 0.8522 0.884124 0.8595 0.8355 Uncertain 1_62704134_A->G 1 62704134 62704134 A G snp 682.77 0/1 99 57 26 31 0.54 intronic rs41289438 KANK4 AU NM_181712 exon1 c.105+81A>G 0.283147 0.1429 Uncertain 1_62713000_G->- 1 62713000 62713000 G - indel 160.73 0/1 99 11 5 6 0.55 intronic rs111297754 KANK4 AU NM_181712 exon2 c.9195-143delG 0.346046 0.1419 Uncertain 1_62713224_C->G 1 62713224 62713224 C G snp 2774.77 1/1 99 104 0 104 1.0 exonic rs2941679 KANK4 AU nonsynonymous SNV NM_181712 exon9 c.G2803C p.V935L 0.986222 1 0.970783 0.9744 0.9998 0.3 T 0.000 P -0.996 T 0.0 T 0.001 T Pathogenic 1_62713246_G->A 1 62713246 62713246 G A snp 1306.77 0/1 99 113 53 60 0.53 exonic rs10889315 KANK4 AU synonymous SNV NM_181712 exon9 c.C2781T p.H927H 0.31889 0.1429 0.390897 0.3896 0.1617 Uncertain 1_62728784_A->G 1 62728784 62728784 A G snp 726.77 0/1 99 51 20 31 0.61 exonic rs2666472 KANK4 AU nonsynonymous SNV NM_181712 exon7 c.T2519C p.V840A 0.715855 0.8433 0.674304 0.7444 0.8406 0.22 T 0.337 P -0.962 T 0.068 T 0.06 T Pathogenic 1_62728838_T->C 1 62728838 62728838 T C snp 1528.77 0/1 99 104 47 57 0.55 exonic rs2258470 KANK4 AU nonsynonymous SNV NM_181712 exon7 c.A2465G p.H822R 0.716254 0.8442 0.674612 0.7426 0.8400 0.21 T 0.000 P -0.992 T 0.0 T 0.0 T Pathogenic 1_62728861_T->C 1 62728861 62728861 T C snp 2065.77 0/1 99 148 66 82 0.55 exonic rs2260581 KANK4 AU synonymous SNV NM_181712 exon7 c.A2442G p.K814K 0.716254 0.8433 0.674535 0.7426 0.8404 Uncertain 1_62728918_G->A 1 62728918 62728918 G A snp 2617.77 0/1 99 226 104 122 0.54 exonic rs2262110 KANK4 AU synonymous SNV NM_181712 exon7 c.C2385T p.P795P 0.716054 0.8433 0.674535 0.7437 0.8428 Uncertain 1_62729015_G->A 1 62729015 62729015 G A snp 2385.77 0/1 99 192 90 102 0.53 intronic rs2262106 KANK4 AU NM_181712 exon4 c.25035+32G>A 0.709465 0.8433 0.666744 0.7535 0.85 Uncertain 1_62732421_T->C 1 62732421 62732421 T C snp 909.77 0/1 99 88 42 46 0.52 exonic rs11207949 KANK4 AU nonsynonymous SNV NM_181712 exon6 c.A2302G p.T768A 0.305511 0.5873 0.237429 0.2850 0.5904 0.25 T 0.0 P -0.935 T 0.006 T 0.011 T Pathogenic 1_62738904_T->C 1 62738904 62738904 T C snp 271.77 0/1 99 24 12 12 0.5 exonic rs7516290 KANK4 AU synonymous SNV NM_181712 exon3 c.A1872G p.P624P 0.800519 0.8403 0.734575 0.7470 0.8452 Uncertain 1_62740446_T->C 1 62740446 62740446 T C snp 1492.77 0/1 99 118 58 60 0.51 exonic rs2666506 KANK4 AU synonymous SNV NM_181712 exon3 c.A330G p.P110P 0.804513 0.8522 0.735267 0.7448 0.8634 Uncertain 1_62740449_T->C 1 62740449 62740449 T C snp 1505.77 0/1 99 118 61 57 0.48 exonic rs2666507 KANK4 AU synonymous SNV NM_181712 exon3 c.A327G p.S109S 0.78095 0.8522 0.707109 0.7374 0.8635 Uncertain 1_62939634_C->T 1 62939634 62939634 C T snp 1750.77 1/1 99 65 0 65 1.0 intronic rs1168007 DOCK7 AR NM_001272001 exon3 c.18568-18C>T 0.963059 1 0.961172 0.9892 1 Uncertain 1_62943264_C->T 1 62943264 62943264 C T snp 1580.77 1/1 99 39 0 39 1.0 intronic rs1168008 DOCK7 AR NM_001272001 exon7 c.22286-106C>T 0.975439 0.9683 Uncertain 1_62945418_A->G 1 62945418 62945418 A G snp 32.77 0/1 61 9 5 4 0.44 intronic rs1183260 DOCK7 AR NM_001272001 exon7 c.22421+1913A>G 0.564497 0.7659 0.5827 0.7073 Uncertain 1_62953183_C->T 1 62953183 62953183 C T snp 910.77 1/1 66 29 0 29 1.0 intronic rs1168025 DOCK7 AR NM_033407 exon8 c.31999+100C>T 0.995208 1 Uncertain 1_62960101_A->G 1 62960101 62960101 A G snp 995.77 0/1 99 86 45 41 0.48 exonic rs10889335 DOCK7 AR synonymous SNV NM_001271999 exon40 c.T5035C p.L1679L 0.349641 0.1815 0.353375 0.3469 0.1939 1.000 P -1.008 T Likely benign 1_62960250_T->C 1 62960250 62960250 T C snp 231.77 0/1 57 9 2 7 0.78 intronic rs1168041 DOCK7 AR NM_001272001 exon10 c.39054+112T>C 0.617412 0.8056 Uncertain 1_62961928_T->C 1 62961928 62961928 T C snp 143.03 1/1 12 5 0 5 1.0 intronic rs1168038 DOCK7 AR NM_001272001 exon12 c.40925-81T>C 0.980431 1 Uncertain 1_62970184_T->C 1 62970184 62970184 T C snp 40.77 0/1 69 6 4 2 0.33 intronic rs1168027 DOCK7 AR NM_001272001 exon13 c.49216-116T>C 0.567891 0.7679 Uncertain 1_62973795_A->G 1 62973795 62973795 A G snp 185.77 0/1 99 16 10 6 0.38 intronic rs1184865 DOCK7 AR NM_001272001 exon15 c.52645+66A>G 0.560104 0.7679 Uncertain 1_62976472_T->G 1 62976472 62976472 T G snp 537.77 1/1 42 14 0 14 1.0 intronic rs1168043 DOCK7 AR NM_001272001 exon16 c.55260+128T>G 0.983626 1 Uncertain 1_63001120_A->C 1 63001120 63001120 A C snp 872.77 0/1 99 79 43 36 0.46 intronic rs1168018 DOCK7 AR NM_001272001 exon21 c.80079-43A>C 0.57508 0.7679 0.570506 0.6352 0.7541 Uncertain 1_63027412_G->- 1 63027412 63027412 G - indel 1462.73 1/1 99 37 0 37 1.0 intronic rs5774610 DOCK7 AR NM_001272001 exon30 c.106290+38delG 0.972244 1 0.971449 0.9917 1 Uncertain 1_63050598_T->G 1 63050598 63050598 T G snp 330.77 0/1 99 29 17 12 0.41 intronic rs3850634 DOCK7 AR NM_001272002 exon1 c.99+49T>G 0.331669 0.1776 0.3647 0.22 Uncertain 1_63070538_GTTAATGTG->- 1 63070538 63070546 GTTAATGTG - indel 750.73 0/1 99 21 12 9 0.43 UTR3 rs34483103 ANGPTL3 AR 0.348442 0.1776 0.339525 0.3330 0.1913 Uncertain 1_63090858_C->T 1 63090858 63090858 C T snp 402.77 0/1 99 28 13 15 0.54 intronic rs6587980 DOCK7 AR NM_001272002 exon5 c.40479-71C>T 0.410343 0.2321 Uncertain 1_63099023_T->C 1 63099023 63099023 T C snp 304.77 0/1 99 22 12 10 0.45 intronic rs10889352 DOCK7 AR NM_001272002 exon7 c.48718-145T>C 0.332468 0.1776 Uncertain 1_63113511_C->A 1 63113511 63113511 C A snp 735.77 0/1 99 77 42 35 0.45 intronic rs746735 DOCK7 AR NM_001272002 exon10 c.62997+64C>A 0.574681 0.7669 Uncertain 1_63113689_T->C 1 63113689 63113689 T C snp 642.77 1/1 48 19 0 19 1.0 intronic rs1168088 DOCK7 AR NM_001272002 exon11 c.63326-87T>C 0.982827 1 Uncertain 1_63113719_T->C 1 63113719 63113719 T C snp 641.77 0/1 99 53 29 24 0.45 intronic rs1168089 DOCK7 AR NM_001272002 exon11 c.63326-57T>C 0.571885 0.7679 Uncertain 1_63113968_T->C 1 63113968 63113968 T C snp 1008.77 0/1 99 78 38 40 0.51 exonic rs61743961 DOCK7 AR nonsynonymous SNV NM_001271999 exon6 c.A541G p.M181V 0.0609026 0.128 0.037916 0.0208 0.1253 0.34 T 1.000 P -0.908 T 0.001 T 0.006 T ID=COSM146534;OCCURENCE=1(stomach) Pathogenic 1_63153953_C->T 1 63153953 63153953 C T snp 730.77 0/1 99 70 37 33 0.47 UTR5 rs4344355 DOCK7 AR 0.325479 0.1776 0.4472 0.3056 Uncertain 1_63154044_C->T 1 63154044 63154044 C T snp 41.77 0/1 70 4 2 2 0.5 upstream rs151283599 DOCK7 AR 0.00559105 0.0268 Uncertain 1_63307303_A->G 1 63307303 63307303 A G snp 208.77 0/1 54 11 2 9 0.82 intronic rs3737892 ATG4C AU NM_032852 exon10 c.37761+85A>G 0.490815 0.6627 Uncertain 1_63788951_C->A 1 63788951 63788951 C A snp 835.77 0/1 99 59 25 34 0.58 exonic rs2274187 FOXD3 AU synonymous SNV NM_012183 exon1 c.C222A p.P74P 0.117812 0.1617 0.2105 0.1667 Uncertain 1_63836513_C->G 1 63836513 63836513 C G snp 577.77 0/1 99 44 20 24 0.55 UTR5 rs34542411 ALG6 AR 0.205272 0.1806 Uncertain 1_63872600_T->C 1 63872600 63872600 T C snp 67.77 0/1 96 15 11 4 0.27 intronic rs12755065 ALG6 AR NM_013339 exon7 c.36084-132T>C 0.181709 0.1855 Uncertain 1_63872871_A->G 1 63872871 63872871 A G snp 1400.77 1/1 99 45 0 45 1.0 intronic rs6588028 ALG6 AR NM_013339 exon7 c.36149+74A>G 0.669329 0.6687 Uncertain 1_63881552_C->T 1 63881552 63881552 C T snp 1313.77 1/1 93 48 0 48 1.0 exonic rs4630153 ALG6 AR nonsynonymous SNV NM_013339 exon11 c.C911T p.S304F 0.830471 0.8571 0.736996 0.7514 0.8596 0.31 T 0.0 P -1.019 T 0.0 T 0.001 T ID=CM001812;DIS=Congenital disorder of glycosylation 1c, mild;TAG=DFP;PUB=10914684 DFP Pathogenic 1_63912546_G->T 1 63912546 63912546 G T snp 493.77 0/1 99 50 25 25 0.5 intronic rs12760364 ITGB3BP AU NM_001206739 exon2 c.50+19G>T 0.182109 0.1657 0.133595 0.1851 0.1944 Uncertain 1_63912564_CAATT->- 1 63912564 63912568 CAATT - indel 1180.73 0/1 99 44 26 18 0.41 intronic rs374869283 ITGB3BP AU NM_001206739 exon2 c.50+37_50+41delCAATT 0.389177 0.4812 0.299488 0.3677 0.4664 Uncertain 1_63991140_T->C 1 63991140 63991140 T C snp 354.78 1/1 27 11 0 11 1.0 intronic rs9436686 EFCAB7 AU 0.9373 1 Uncertain 1_63991267_T->C 1 63991267 63991267 T C snp 593.77 0/1 99 78 54 24 0.31 exonic rs217478 EFCAB7 AU synonymous SNV NM_032437 exon2 c.T24C p.D8D 0.401757 0.4812 0.321390 0.3762 0.4743 Uncertain 1_63997633_A->T 1 63997633 63997633 A T snp 1362.77 0/1 99 97 42 55 0.57 exonic rs9804078 EFCAB7 AU synonymous SNV NM_032437 exon3 c.A330T p.S110S 0.196286 0.1855 0.178593 0.1726 0.1847 Uncertain 1_63999087_T->C 1 63999087 63999087 T C snp 469.77 0/1 99 40 21 19 0.47 intronic rs217454 EFCAB7 AU NM_032437 exon5 c.7881-37T>C 0.401757 0.4812 0.320274 0.3821 0.4834 Uncertain 1_63999826_C->T 1 63999826 63999826 C T snp 1889.77 0/1 99 146 62 84 0.58 exonic rs6693255 EFCAB7 AU nonsynonymous SNV NM_032437 exon6 c.C743T p.T248I 0.144968 0.1855 0.132093 0.1585 0.1839 0.01 T 1.000 P -1.083 T 0.294 T 0.07 T Pathogenic 1_63999868_T->C 1 63999868 63999868 T C snp 1371.77 0/1 99 108 51 57 0.53 exonic rs6657480 EFCAB7 AU nonsynonymous SNV NM_032437 exon6 c.T785C p.M262T 0.28754 0.1925 0.265032 0.2014 0.1923 0.77 T 0.000 P -0.980 T 0.0 T 0.0 T Pathogenic 1_63999891_T->C 1 63999891 63999891 T C snp 871.77 0/1 99 74 38 36 0.49 splicing rs6657559 EFCAB7 AU NM_032437 exon6 c.8644+4T>C 0.138978 0.1855 0.127442 0.1619 0.1878 Pathogenic 1_64015217_G->A 1 64015217 64015217 G A snp 2146.77 1/1 99 84 0 84 1.0 ncRNA_exonic rs217485 DLEU2L AU 0.683107 0.6667 0.5849 0.6958 1 T 0.041 P -0.997 T Uncertain 1_64021096_G->A 1 64021096 64021096 G A snp 1098.77 0/1 99 113 64 49 0.43 exonic rs2273367 EFCAB7 AU nonsynonymous SNV NM_032437 exon9 c.G1124A p.R375K 0.139976 0.1855 0.128710 0.1575 0.1839 0.25 T 1.000 P -1.089 T 0.001 T 0.002 T Pathogenic 1_64036838_G->A 1 64036838 64036838 G A snp 339.77 0/1 99 31 16 15 0.48 intronic rs4915903 EFCAB7 AU NM_032437 exon13 c.45556+39G>A 0.145567 0.1865 0.131255 0.1605 0.1888 Uncertain 1_64038107_G->T 1 64038107 64038107 G T snp 232.77 0/1 99 21 10 11 0.52 splicing rs6588050 EFCAB7 AU NM_032437 exon14 c.46869-5G>T 0.196685 0.1865 0.174923 0.1736 0.1849 Pathogenic 1_64100478_A->T 1 64100478 64100478 A T snp 145.77 0/1 99 17 10 7 0.41 intronic rs6588052 PGM1 AR NM_001172819 exon5 c.3137-21A>T 0.5002 0.6488 0.423497 0.4141 0.6782 Uncertain 1_64102114_A->G 1 64102114 64102114 A G snp 68.77 0/1 97 11 8 3 0.27 intronic rs2269248 PGM1 AR NM_001172819 exon6 c.4697+55A>G 0.49401 0.62 Uncertain 1_64474804_C->T 1 64474804 64474804 C T snp 54.74 1/1 6 2 0 2 1.0 intronic rs285399 ROR1 AU NM_005012 exon2 c.234888-172C>T 0.66274 0.9494 Uncertain 1_64515379_C->T 1 64515379 64515379 C T snp 2411.77 1/1 99 84 0 84 1.0 exonic rs1772626 ROR1 AU synonymous SNV NM_001083592 exon3 c.C180T p.L60L 0.778754 0.9415 0.779794 0.8384 0.9585 Uncertain 1_64608329_G->T 1 64608329 64608329 G T snp 4222.77 1/1 99 156 0 156 1.0 exonic rs2762833 ROR1 AU synonymous SNV NM_001083592 exon7 c.G1170T p.A390A 1 1 1 1 Uncertain 1_64624612_G->A 1 64624612 64624612 G A snp 815.77 1/1 60 28 0 28 1.0 intronic rs4362024 ROR1 AU NM_005012 exon8 c.384575-51G>A 0.960663 1 0.962853 Uncertain 1_64624842_A->G 1 64624842 64624842 A G snp 1956.77 0/1 99 172 86 86 0.5 exonic rs6668545 ROR1 AU synonymous SNV NM_005012 exon8 c.A1353G p.V451V 0.345847 0.4127 0.320160 0.3592 0.4068 Uncertain 1_64643277_C->T 1 64643277 64643277 C T snp 2433.77 0/1 99 189 92 97 0.51 exonic rs7527017 ROR1 AU nonsynonymous SNV NM_005012 exon9 c.C1553T p.T518M 0.243211 0.3115 0.246271 0.3043 0.3000 0.07 T 1.000 P -0.285 T 0.788 T 0.532 P Pathogenic 1_64669567_A->T 1 64669567 64669567 A T snp 200.77 0/1 87 11 3 8 0.73 UTR5 rs2806529 UBE2U AU 0.402157 0.3958 Uncertain 1_64680654_G->A 1 64680654 64680654 G A snp 477.77 0/1 99 49 27 22 0.45 intronic rs7534166 UBE2U AU NM_152489 exon5 c.10882+39G>A 0.242612 0.5169 0.141934 0.1817 0.5392 Uncertain 1_64680682_C->G 1 64680682 64680682 C G snp 332.77 0/1 99 28 14 14 0.5 intronic rs825174 UBE2U AU NM_152489 exon5 c.10882+67C>G 0.746805 0.7034 Uncertain 1_64726414_A->C 1 64726414 64726414 A C snp 861.77 0/1 99 54 18 36 0.67 intergenic rs705542 UBE2U AU 0.602236 0.7073 0.6789 0.7510 Uncertain 1_65016349_A->T 1 65016349 65016349 A T snp 6260.77 1/1 99 221 1 220 1.0 intronic rs2164571 CACHD1 AU NM_020925 exon2 c.79759+10A>T 0.915735 1 0.892235 0.9361 1 Uncertain 1_65016399_G->A 1 65016399 65016399 G A snp 2365.77 0/1 99 187 84 103 0.55 intronic rs11808959 CACHD1 AU NM_020925 exon2 c.79759+60G>A 0.102236 0.1071 0.116732 Uncertain 1_65045603_A->- 1 65045603 65045603 A - indel 371.73 0/1 99 38 16 22 0.58 ncRNA_exonic rs397808274 MIR4794 AU 0.747005 0.5486 1 . Uncertain 1_65068638_T->C 1 65068638 65068638 T C snp 1441.77 1/1 99 49 0 49 1.0 intronic rs6665437 CACHD1 AU NM_020925 exon4 c.132015+43T>C 0.987819 1 0.984738 0.9961 1 Uncertain 1_65099978_G->A 1 65099978 65099978 G A snp 1463.77 1/1 99 51 0 51 1.0 intronic rs2118102 CACHD1 AU NM_001293274 exon6 c.118+35G>A 0.921526 1 0.916193 0.9773 1 Uncertain 1_65100061_G->T 1 65100061 65100061 G T snp 50.74 1/1 6 2 0 2 1.0 intronic rs2164572 CACHD1 AU NM_001293274 exon6 c.118+118G>T 0.955871 0.9712 Uncertain 1_65107372_C->T 1 65107372 65107372 C T snp 2491.77 1/1 99 84 0 84 1.0 intronic rs6664905 CACHD1 AU NM_001293274 exon7 c.7677-130C>T 0.980431 1 Uncertain 1_65113351_T->C 1 65113351 65113351 T C snp 419.77 1/1 33 11 0 11 1.0 intronic rs7534210 CACHD1 AU NM_001293274 exon8 c.13658-132T>C 0.998003 1 Uncertain 1_65113568_T->C 1 65113568 65113568 T C snp 3494.77 1/1 99 128 0 128 1.0 exonic rs6588100 CACHD1 AU nonsynonymous SNV NM_020925 exon9 c.T1088C p.M363T 0.997804 1 0.996617 0.9990 1 0.51 T 0.0 P -0.925 T 0.0 T 0.0 T Pathogenic 1_65119397_A->G 1 65119397 65119397 A G snp 963.77 0/1 99 93 51 42 0.45 intronic rs7518616 CACHD1 AU NM_001293274 exon10 c.19615-43A>G 0.376797 0.6349 0.183069 0.2066 0.6452 Uncertain 1_65124699_G->T 1 65124699 65124699 G T snp 257.77 0/1 99 14 5 9 0.64 intronic rs11208491 CACHD1 AU NM_001293274 exon12 c.24731+143G>T 0.224441 0.4415 Uncertain 1_65130059_A->T 1 65130059 65130059 A T snp 55.77 0/1 84 9 6 3 0.33 intronic rs4578253 CACHD1 AU NM_001293274 exon14 c.30355-121A>T 0.397364 0.7202 Uncertain 1_65131893_A->- 1 65131893 65131893 A - indel 324.73 0/1 99 36 24 12 0.33 intronic rs10713356 CACHD1 AU NM_001293274 exon15 c.32025+43delA 0.40016 0.7192 0.194649 0.2223 0.7284 Uncertain 1_65147228_T->G 1 65147228 65147228 T G snp 40.78 0/1 27 3 1 2 0.67 intronic CACHD1 AU NM_001293274 exon24 c.47193+210T>G Uncertain 1_65247394_T->C 1 65247394 65247394 T C snp 34.78 0/1 27 3 1 2 0.67 intronic rs2478151 RAVER2 AU NM_018211 exon4 c.36399+140T>C 0.321486 0.3165 Uncertain 1_65255018_G->A 1 65255018 65255018 G A snp 898.77 0/1 99 55 24 31 0.56 intronic rs2500232 RAVER2 AU NM_018211 exon5 c.44215-52G>A 0.534944 0.5942 Uncertain 1_65301669_C->A 1 65301669 65301669 C A snp 469.77 1/1 36 12 0 12 1.0 intronic rs2254002 JAK1 AU NM_002227 exon3 c.1536-111C>A 0.571685 0.619 Uncertain 1_65305522_G->A 1 65305522 65305522 G A snp 263.77 0/1 99 17 8 9 0.53 intronic rs2274943 JAK1 AU NM_002227 exon6 c.5234+44G>A 0.0924521 0.253 0.022881 0.0581 0.3138 Uncertain 1_65310489_T->C 1 65310489 65310489 T C snp 848.77 0/1 99 86 47 39 0.45 exonic rs2230588 JAK1 AU synonymous SNV NM_002227 exon16 c.A2199G p.P733P 0.372604 0.2996 0.349196 0.2935 0.3136 ID=COSM3751351;OCCURENCE=1(large_intestine) Uncertain 1_65311116_G->C 1 65311116 65311116 G C snp 439.77 0/1 99 27 8 19 0.7 intronic rs2780821 JAK1 AU NM_002227 exon11 c.10951-79G>C 0.370807 0.2996 Uncertain 1_65311117_C->T 1 65311117 65311117 C T snp 444.77 0/1 99 28 8 20 0.71 intronic rs2780896 JAK1 AU NM_002227 exon11 c.10951-78C>T 0.372404 0.2996 Uncertain 1_65311262_G->A 1 65311262 65311262 G A snp 1326.77 0/1 99 126 64 62 0.49 exonic rs2230587 JAK1 AU synonymous SNV NM_002227 exon15 c.C2049T p.S683S 0.198283 0.3165 0.135553 0.1507 0.3245 ID=COSM3751352;OCCURENCE=1(large_intestine),1(thyroid) Uncertain 1_65316675_G->A 1 65316675 65316675 G A snp 1365.77 0/1 99 114 56 58 0.51 intronic rs310216 JAK1 AU NM_002227 exon14 c.16349+82G>A 0.364417 0.2996 Uncertain 1_65321388_G->A 1 65321388 65321388 G A snp 1446.77 0/1 99 130 67 63 0.48 intronic rs310229 JAK1 AU NM_002227 exon15 c.21137+7G>A 0.402556 0.3065 0.380134 0.3574 0.3264 Uncertain 1_65325970_C->T 1 65325970 65325970 C T snp 808.77 0/1 99 60 25 35 0.58 intronic rs310224 JAK1 AU NM_002227 exon17 c.25701+25C>T 0.404153 0.3065 0.382736 0.3568 0.3226 Uncertain 1_65330682_G->A 1 65330682 65330682 G A snp 281.77 0/1 99 15 6 9 0.6 intronic rs2256298 JAK1 AU NM_002227 exon18 c.30411+27G>A 0.367212 0.3065 0.329873 0.2984 0.3273 Uncertain 1_65523519_A->G 1 65523519 65523519 A G snp 520.77 0/1 99 32 13 19 0.59 ncRNA_exonic rs521188 MIR3671 AU 0.121206 0.3056 0.0615 0.3281 Uncertain 1_65614154_T->A 1 65614154 65614154 T A snp 350.77 0/1 99 63 46 17 0.27 exonic rs17853973 AK4 AU nonsynonymous SNV NM_013410 exon1 c.T64A p.C22S 0.216853 0.2728 0.123638 0.1547 0.3828 0.43 T 0.973 P -1.071 T 0.004 T 0.004 T Pathogenic 1_65614318_A->G 1 65614318 65614318 A G snp 609.77 0/1 99 45 21 24 0.53 intronic rs6664331 AK4 AU NM_013410 exon1 c.145+83A>G 0.228834 0.2738 Uncertain 1_65684425_C->T 1 65684425 65684425 C T snp 1338.77 0/1 99 124 62 62 0.5 intronic rs11208611 AK4 AU NM_013410 exon3 c.70346-11C>T 0.603435 0.7163 0.492926 0.4504 0.6903 Uncertain 1_65690461_G->A 1 65690461 65690461 G A snp 356.77 0/1 99 19 5 14 0.74 exonic rs4915685 AK4 AU synonymous SNV NM_013410 exon4 c.G465A p.P155P 0.370008 0.6726 0.244503 0.2810 0.6442 Uncertain 1_65832014_A->G 1 65832014 65832014 A G snp 348.77 0/1 99 29 18 11 0.38 intronic rs35329755 DNAJC6 AR NM_001256864 exon4 c.56451+135A>G 0.299521 0.5863 Uncertain 1_65844963_A->G 1 65844963 65844963 A G snp 640.77 0/1 99 39 16 23 0.59 intronic rs3818449 DNAJC6 AR NM_001256864 exon5 c.69656-121A>G 0.760184 0.8085 Uncertain 1_65845042_A->T 1 65845042 65845042 A T snp 1309.77 0/1 99 111 54 57 0.51 intronic rs2296480 DNAJC6 AR NM_001256864 exon5 c.69656-42A>T 0.399161 0.625 0.229125 0.2121 0.6109 Uncertain 1_65845076_C->T 1 65845076 65845076 C T snp 1655.77 0/1 99 142 73 69 0.49 intronic rs2296481 DNAJC6 AR NM_001256864 exon5 c.69656-8C>T 0.398962 0.624 0.229740 0.2130 0.6135 Uncertain 1_65858151_C->T 1 65858151 65858151 C T snp 673.77 0/1 99 42 14 28 0.67 exonic rs11208644 DNAJC6 AR synonymous SNV NM_001256864 exon12 c.C1506T p.H502H 0.313898 0.5873 0.156697 0.1398 0.5796 Uncertain 1_65860660_T->C 1 65860660 65860660 T C snp 1816.77 0/1 99 218 128 90 0.41 exonic rs12077111 DNAJC6 AR synonymous SNV NM_001256864 exon13 c.T1983C p.S661S 0.314297 0.5883 0.156774 0.1386 0.5806 Uncertain 1_65860687_A->C 1 65860687 65860687 A C snp 1792.77 0/1 99 214 124 90 0.42 exonic rs4582839 DNAJC6 AR synonymous SNV NM_001256864 exon13 c.A2010C p.P670P 0.757788 0.7927 0.695448 0.6468 0.7779 Uncertain 1_65867391_C->G 1 65867391 65867391 C G snp 1371.77 0/1 99 95 41 54 0.57 intronic rs4592284 DNAJC6 AR NM_001256864 exon15 c.92015-52C>G 0.73143 0.7927 Uncertain 1_65867519_G->A 1 65867519 65867519 G A snp 1411.77 0/1 99 140 74 66 0.47 exonic rs4915691 DNAJC6 AR nonsynonymous SNV NM_001256864 exon15 c.G2183A p.S728N 0.360224 0.6042 0.183300 0.1728 0.5971 0.59 T 0.0 P -0.855 T 0.001 T 0.005 T Pathogenic 1_65874544_G->A 1 65874544 65874544 G A snp 422.77 0/1 99 60 42 18 0.3 intronic rs58308432 DNAJC6 AR NM_001256864 exon17 c.99038+78G>A 0.0167732 0.0337 Uncertain 1_65886398_T->C 1 65886398 65886398 T C snp 944.77 0/1 99 122 78 44 0.36 UTR5 rs3790435 LEPR AU 0.567891 0.8681 0.441844 0.5515 0.8521 Uncertain 1_65886448_T->C 1 65886448 65886448 T C snp 1546.77 0/1 99 186 116 70 0.38 intronic rs3790434 LEPR AU 0.542532 0.8681 0.421184 0.5236 0.8431 Uncertain 1_65887013_A->C 1 65887013 65887013 A C snp 2744.77 0/1 99 212 97 115 0.54 UTR5 rs12145690 LEPROT AU 0.541933 0.8681 Uncertain 1_66036441_A->G 1 66036441 66036441 A G snp 726.77 0/1 99 67 37 30 0.45 exonic rs1137100 LEPR AU nonsynonymous SNV NM_002303 exon4 c.A326G p.K109R 0.320288 0.8046 0.233354 0.2942 0.8221 0.43 T 1.000 P -0.885 T 0.99 D 0.851 D CLINSIG=non-pathogenic;CLNDBN=LEPTIN_RECEPTOR_POLYMORPHISM;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000009049.1;CLNDSDB=.;CLNDSDBID=. ID=CM032948;DIS=Increased birth weight, association with;TAG=DFP;PUB=18490929 DFP Pathogenic 1_66036501_G->T 1 66036501 66036501 G T snp 1025.77 1/1 75 32 0 32 1.0 intronic rs2186248 LEPR AU NM_002303 exon4 c.5237+16G>T 1 1 0.999461 0.9999 1 Uncertain 1_66058513_A->G 1 66058513 66058513 A G snp 2027.77 0/1 99 198 105 93 0.47 exonic rs1137101 LEPR AU nonsynonymous SNV NM_002303 exon6 c.A668G p.Q223R 0.584265 0.869 0.490312 0.5103 0.8783 0.41 T 1.000 P -1.102 T 0.828 T 0.234 P CLINSIG=non-pathogenic;CLNDBN=LEPTIN_RECEPTOR_POLYMORPHISM;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000009047.1;CLNDSDB=.;CLNDSDBID=. ID=CM010905;DIS=Higher body mass index, association with;TAG=DP;PUB=11354636 DP Pathogenic 1_66062325_A->G 1 66062325 66062325 A G snp 278.77 0/1 99 16 5 11 0.69 intronic rs3828034 LEPR AU NM_002303 exon7 c.31028+49A>G 0.0950479 0.0446 0.126204 0.1539 0.0393 Uncertain 1_66064293_A->C 1 66064293 66064293 A C snp 160.77 0/1 99 12 5 7 0.58 intronic rs3762273 LEPR AU NM_002303 exon8 c.33094-49A>C 0.573882 0.873 0.440864 0.4731 0.8868 Uncertain 1_66071082_T->A 1 66071082 66071082 T A snp 86.77 0/1 30 4 1 3 0.75 intronic rs79035087 LEPR AU NM_002303 exon11 c.39672+162T>A 0.0890575 0.0585 Uncertain 1_66075952_G->C 1 66075952 66075952 G C snp 143.77 0/1 99 33 26 7 0.21 exonic rs1805094 LEPR AU nonsynonymous SNV NM_002303 exon14 c.G1968C p.K656N 0.142372 0.0585 0.176674 0.1579 0.0550 0.37 T 0.987 P -1.004 T 0.944 T 0.581 D CLINSIG=non-pathogenic;CLNDBN=LEPTIN_RECEPTOR_POLYMORPHISM;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000009050.1;CLNDSDB=.;CLNDSDBID=. ID=CM025915;DIS=Altered carbohydrate metabolism;TAG=FP;PUB=12006639 FP Pathogenic 1_66085525_T->A 1 66085525 66085525 T A snp 107.77 0/1 99 14 8 6 0.43 intronic rs3790438 LEPR AU NM_002303 exon17 c.54362-85T>A 0.142772 0.0625 Uncertain 1_66085574_T->A 1 66085574 66085574 T A snp 1031.77 1/1 75 36 0 36 1.0 intronic rs3790439 LEPR AU NM_002303 exon17 c.54362-36T>A 0.563898 0.869 0.435464 0.4675 0.8709 Uncertain 1_66087301_G->C 1 66087301 66087301 G C snp 369.77 1/1 30 11 0 11 1.0 intronic rs4655743 LEPR AU NM_002303 exon18 c.55893+160G>C 0.563898 0.869 Uncertain 1_66088701_C->A 1 66088701 66088701 C A snp 783.77 1/1 57 30 0 30 1.0 intronic rs12067936 LEPR AU NM_002303 exon19 c.57416+37C>A 0.563299 0.869 0.435395 0.4677 0.8706 Uncertain 1_66092017_T->A 1 66092017 66092017 T A snp 99.28 1/1 9 3 0 3 1.0 intronic rs6588153 LEPR AU NM_001198688 exon19 c.60669+100T>A 0.527955 0.869 Uncertain 1_66094928_A->T 1 66094928 66094928 A T snp 348.77 0/1 99 34 18 16 0.47 intronic rs1938499 LEPR AU NM_001198687 exon19 c.64636-956A>T 0.0980431 0.0625 Uncertain 1_66099013_C->A 1 66099013 66099013 C A snp 314.77 0/1 99 17 6 11 0.65 intronic rs17415296 LEPR AU NM_001198689 exon19 c.67586+179C>A 0.0976438 0.0625 Uncertain 1_66102257_G->A 1 66102257 66102257 G A snp 4461.77 1/1 99 165 0 165 1.0 exonic rs1805096 LEPR AU synonymous SNV NM_002303 exon20 c.G3057A p.P1019P 0.529752 0.869 0.407496 0.4526 0.8706 Uncertain 1_66102755_-->TTACT 1 66102755 66102755 - TTACT indel 906.73 0/1 99 31 14 17 0.55 UTR3 rs113673239 LEPR AU 0.236022 0.1002 Uncertain 1_66732299_-->TGTTT 1 66732299 66732299 - TGTTT indel 2294.73 0/1 99 58 22 36 0.62 intronic rs142998183 PDE4B AU NM_001297441 exon6 c.352773+529insTGTTT 0.0846645 0.2262 Uncertain 1_66732529_A->T 1 66732529 66732529 A T snp 1255.77 1/1 93 35 0 35 1.0 intronic rs6701329 PDE4B AU NM_001297441 exon6 c.352773+759A>T 0.445288 0.5099 Uncertain 1_66829262_A->G 1 66829262 66829262 A G snp 2586.77 1/1 99 90 0 90 1.0 intronic rs783039 PDE4B AU NM_001037339 exon5 c.31182+8A>G 0.86901 0.9454 0.790943 0.7917 0.9477 Uncertain 1_67000103_A->G 1 67000103 67000103 A G snp 1768.77 0/1 99 109 45 64 0.59 intronic rs1445578 SGIP1 AU NM_032291 exon1 c.10+52A>G 0.176917 0.3294 0.144114 0.1892 0.3626 Uncertain 1_67000162_T->G 1 67000162 67000162 T G snp 944.77 0/1 99 55 24 31 0.56 intronic rs1445579 SGIP1 AU NM_032291 exon1 c.10+111T>G 0.177117 0.3294 Uncertain 1_67094171_G->A 1 67094171 67094171 G A snp 1737.77 0/1 99 137 66 71 0.52 ncRNA_exonic rs12402181 MIR3117 AU 0.292332 0.3214 0.2216 0.3594 Uncertain 1_67094336_G->A 1 67094336 67094336 G A snp 351.78 1/1 27 10 0 10 1.0 intronic rs4655646 SGIP1 AU NM_032291 exon2 c.91552+2743G>A 0.836462 1 Uncertain 1_67101802_A->G 1 67101802 67101802 A G snp 219.77 0/1 99 13 5 8 0.62 intronic rs7546825 SGIP1 AU NM_032291 exon4 c.101657+104A>G 0.573882 0.503 Uncertain 1_67109335_A->G 1 67109335 67109335 A G snp 2554.77 0/1 99 176 69 107 0.61 exonic rs7526812 SGIP1 AU nonsynonymous SNV NM_032291 exon7 c.A392G p.K131R 0.282348 0.2738 0.223666 0.2145 0.2787 0.48 T 0.001 P -1.031 T 0.006 T 0.003 T Pathogenic 1_67125952_A->T 1 67125952 67125952 A T snp 145.77 0/1 98 9 4 5 0.56 intronic rs12746750 SGIP1 AU NM_032291 exon8 c.126154-243A>T 0.244409 0.5099 Uncertain 1_67126114_A->G 1 67126114 67126114 A G snp 7061.77 1/1 99 250 0 250 1.0 intronic rs12094526 SGIP1 AU NM_032291 exon8 c.126154-81A>G 0.652955 0.874 0.474376 Uncertain 1_67133111_T->C 1 67133111 67133111 T C snp 681.77 0/1 99 72 42 30 0.42 intronic rs11208941 SGIP1 AU NM_032291 exon9 c.133171-101T>C 0.244609 0.5099 Uncertain 1_67136537_C->T 1 67136537 67136537 C T snp 338.77 0/1 99 27 14 13 0.48 intronic rs6686606 SGIP1 AU NM_032291 exon10 c.136636-140C>T 0.148562 0.252 Uncertain 1_67136845_G->T 1 67136845 67136845 G T snp 116.77 0/1 99 10 5 5 0.5 intronic rs11208942 SGIP1 AU NM_032291 exon10 c.136661+143G>T 0.114018 0.252 Uncertain 1_67138878_G->- 1 67138878 67138878 G - indel 2022.73 0/1 99 115 58 57 0.5 intronic rs35377023 SGIP1 AU NM_032291 exon12 c.138922-85delG 0.24361 0.5198 Uncertain 1_67145156_T->A 1 67145156 67145156 T A snp 96.28 1/1 9 3 0 3 1.0 intronic rs11208945 SGIP1 AU NM_032291 exon14 c.145319-204T>A 0.46845 0.7827 Uncertain 1_67145322_C->A 1 67145322 67145322 C A snp 6804.77 1/1 99 250 0 250 1.0 intronic rs10889644 SGIP1 AU NM_032291 exon14 c.145319-38C>A 0.774161 1 0.598493 0.6778 0.9995 Uncertain 1_67149706_G->C 1 67149706 67149706 G C snp 388.77 1/1 30 11 0 11 1.0 intronic rs10749764 SGIP1 AU NM_032291 exon15 c.148011+1654G>C 0.605232 0.871 Uncertain 1_67154731_AA->- 1 67154731 67154732 AA - indel 1849.73 ./1 99 76 3 73 0.96 intronic rs139348429 SGIP1 AU NM_032291 exon16 c.154789-99_154789-98delAA Uncertain 1_67154731_AAA->- 1 67154731 67154733 AAA - indel 1849.73 ./1 99 76 3 73 0.96 intronic rs764285168 SGIP1 AU NM_032291 exon16 c.154789-99_154789-97delAAA Uncertain 1_67160336_A->G 1 67160336 67160336 A G snp 2096.77 1/1 99 68 0 68 1.0 intronic rs2146904 SGIP1 AU NM_032291 exon18 c.161075-780A>G 0.740815 0.996 Uncertain 1_67266756_T->A 1 67266756 67266756 T A snp 1841.77 1/1 99 74 0 74 1.0 exonic rs549148 INSL5 AU nonsynonymous SNV NM_005478 exon1 c.A149T p.Q50L 0.871206 0.9901 0.842611 0.8764 0.9951 1 T 0.0 P -0.901 T 0.0 T 0.0 T Pathogenic 1_67288045_C->T 1 67288045 67288045 C T snp 5760.77 1/1 99 214 0 214 1.0 exonic rs482082 WDR78 AU nonsynonymous SNV NM_024763 exon16 c.G2495A p.R832Q 0.514776 0.6419 0.516146 0.5009 0.6522 0.46 T 0.105 P -1.057 T 0.005 T 0.003 T Pathogenic 1_67313793_G->A 1 67313793 67313793 G A snp 495.77 0/1 99 35 19 16 0.46 intronic rs79498460 WDR78 AU NM_207014 exon3 c.10026+432G>A 0.132788 0.1468 Uncertain 1_67390416_G->C 1 67390416 67390416 G C snp 6720.77 1/1 99 244 0 244 1.0 exonic rs3008858 WDR78 AU nonsynonymous SNV NM_024763 exon1 c.C99G p.C33W 0.837859 0.8829 0.768415 0.7845 0.8752 0.33 T 0.000 P -1.105 T 0.0 T 0.0 T Pathogenic 1_67390468_C->G 1 67390468 67390468 C G snp 5687.77 1/1 99 195 0 195 1.0 exonic rs1886686 WDR78 AU nonsynonymous SNV NM_024763 exon1 c.G47C p.G16A 0.842652 0.8829 0.772413 0.7859 0.8757 1 T 0.001 P -0.993 T 0.0 T 0.0 T Pathogenic 1_67390999_G->C 1 67390999 67390999 G C snp 264.8 1/1 21 7 0 7 1.0 intronic rs3008859 MIER1 AU NM_001077703 exon1 c.67+221G>C 0.838059 0.8829 Uncertain 1_67391003_G->C 1 67391003 67391003 G C snp 262.8 1/1 21 7 0 7 1.0 intronic rs3008860 MIER1 AU NM_001077703 exon1 c.67+225G>C 0.838658 0.8829 Uncertain 1_67396222_T->G 1 67396222 67396222 T G snp 600.77 1/1 45 15 0 15 1.0 intronic rs3008861 MIER1 AU NM_001077701 exon1 c.9+139T>G 0.879393 0.8829 Uncertain 1_67425311_T->G 1 67425311 67425311 T G snp 434.77 1/1 33 19 0 19 1.0 intronic rs2985794 MIER1 AU NM_001077703 exon7 c.34650-50T>G 0.838858 0.8829 0.771818 0.7854 0.8735 Uncertain 1_67473977_A->G 1 67473977 67473977 A G snp 120.03 1/1 12 4 0 4 1.0 intronic rs2755266 SLC35D1 AR NM_015139 exon2 c.4745-790A>G 0.61242 0.8413 Uncertain 1_67487119_C->A 1 67487119 67487119 C A snp 1498.77 1/1 99 45 0 45 1.0 intronic rs2065002 SLC35D1 AR NM_015139 exon4 c.17195-98C>A 0.632188 0.8413 Uncertain 1_67487375_CCAACA->- 1 67487375 67487380 CCAACA - indel 4836.73 1/1 99 73 0 73 1.0 intronic rs548048694 SLC35D1 AR NM_015139 exon4 c.17263+90_17263+95delCCAACA 0.620407 0.8383 Uncertain 1_67487395_G->C 1 67487395 67487395 G C snp 1166.77 1/1 84 44 1 43 0.98 intronic rs11576752 SLC35D1 AR NM_015139 exon4 c.17263+110G>C 0.625799 0.8234 Uncertain 1_67487401_G->C 1 67487401 67487401 G C snp 1029.85 1/1 17 43 2 41 0.95 intronic rs11576753 SLC35D1 AR NM_015139 exon4 c.17263+116G>C 0.631589 0.8155 Uncertain 1_67487407_G->C 1 67487407 67487407 G C snp 1050.77 1/1 50 39 1 38 0.97 intronic rs11208992 SLC35D1 AR NM_015139 exon4 c.17263+122G>C 0.642772 0.7976 Uncertain 1_67508081_CACT->- 1 67508081 67508084 CACT - indel 2652.73 0/1 99 88 39 49 0.56 intronic rs10543599 SLC35D1 AR NM_015139 exon5 c.37989+70_37989+73delCACT 0.373802 0.501 Uncertain 1_67512903_G->T 1 67512903 67512903 G T snp 1161.77 1/1 48 48 1 47 0.98 intronic rs1024229 SLC35D1 AR NM_015139 exon6 c.42925-44G>T 0.709465 0.6389 0.689048 0.6788 0.6324 Uncertain 1_67512920_A->C 1 67512920 67512920 A C snp 1304.77 1/1 57 52 1 51 0.98 intronic rs1024230 SLC35D1 AR NM_015139 exon6 c.42925-27A>C 0.709465 0.6389 0.687990 0.6816 0.6355 Uncertain 1_67558739_C->T 1 67558739 67558739 C T snp 1373.77 1/1 99 46 0 46 1.0 exonic rs6588237 C1orf141 AU synonymous SNV NM_001276351 exon8 c.G1152A p.T384T 0.920727 0.9722 0.876827 0.8872 0.9725 Uncertain 1_67560897_A->G 1 67560897 67560897 A G snp 2251.77 1/1 99 82 0 82 1.0 intronic rs10889653 C1orf141 AU NM_001276351 exon2 c.2230-20A>G 0.932308 0.9722 0.886171 0.8880 0.9719 Uncertain 1_67560956_C->T 1 67560956 67560956 C T snp 3091.77 1/1 99 116 0 116 1.0 exonic rs11208997 C1orf141 AU nonsynonymous SNV NM_001276351 exon7 c.G565A p.V189I 0.938498 0.9722 0.893555 0.8923 0.9720 1 T 0.000 P -0.913 T 0.0 T 0.0 T Pathogenic 1_67562106_G->T 1 67562106 67562106 G T snp 528.77 1/1 39 18 0 18 1.0 intronic rs6670381 C1orf141 AU NM_001276352 exon2 c.2742+102G>T 0.709065 0.8512 Uncertain 1_67568824_G->T 1 67568824 67568824 G T snp 220.84 1/1 18 6 0 6 1.0 intronic rs1885276 C1orf141 AU NM_001276352 exon3 c.9658-96G>T 0.919329 0.9722 Uncertain 1_67577367_A->T 1 67577367 67577367 A T snp 1976.77 1/1 99 78 0 78 1.0 intronic rs6588240 C1orf141 AU NM_001276352 exon4 c.18065+40A>T 0.805312 0.9077 0.8292 0.8870 Uncertain 1_67579245_G->A 1 67579245 67579245 G A snp 258.8 1/1 21 8 0 8 1.0 intronic rs2144655 C1orf141 AU NM_001276352 exon5 c.21772-1789G>A 0.659345 0.7887 Uncertain 1_67579386_A->G 1 67579386 67579386 A G snp 1270.77 1/1 90 47 0 47 1.0 intronic rs2144656 C1orf141 AU NM_001276352 exon5 c.21772-1648A>G 0.917931 0.9722 0.9376 0.9773 Uncertain 1_67591347_A->G 1 67591347 67591347 A G snp 717.77 1/1 54 19 0 19 1.0 intronic rs6691094 C1orf141 AU NM_001276352 exon6 c.32172-87A>G 0.611821 0.7907 Uncertain 1_67591660_G->A 1 67591660 67591660 G A snp 54.74 1/1 6 2 0 2 1.0 intronic rs4655520 C1orf141 AU NM_001276352 exon6 c.32330+68G>A 0.76857 0.8998 Uncertain 1_67633812_G->T 1 67633812 67633812 G T snp 2905.77 1/1 99 109 0 109 1.0 exonic rs1884444 IL23R AU nonsynonymous SNV NM_144701 exon2 c.G9T p.Q3H 0.530152 0.6369 0.518453 0.5285 0.6498 0.48 T 0.0 P -1.029 T 0.002 T 0.005 T ID=CM106957;DIS=Gastric cancer, decreased risk, association with;TAG=DP;PUB=20607725 DP Pathogenic 1_67648460_T->C 1 67648460 67648460 T C snp 2529.77 1/1 99 83 1 82 0.99 intronic rs6687620 IL23R AU NM_144701 exon4 c.14715-58T>C 0.952077 0.996 Uncertain 1_67672765_G->A 1 67672765 67672765 G A snp 952.77 0/1 99 106 62 44 0.42 intronic rs7539625 IL23R AU NM_144701 exon6 c.38935+27G>A 0.381589 0.5427 0.294326 0.3304 0.5311 Uncertain 1_67672911_C->T 1 67672911 67672911 C T snp 56.74 1/1 6 3 1 2 0.67 intronic rs7539643 IL23R AU NM_144701 exon6 c.38935+173C>T 0.369409 0.5427 Uncertain 1_67685387_T->C 1 67685387 67685387 T C snp 3373.77 1/1 99 127 0 127 1.0 exonic rs7530511 IL23R AU nonsynonymous SNV NM_144701 exon7 c.T929C p.L310P 0.875998 0.9871 0.834000 0.8776 0.9831 1 T 0.000 P -1.067 T 0.0 T 0.0 T ID=CM073141;DIS=Psoriasis, increased risk, association with;TAG=DP;PUB=17236132 DP Pathogenic 1_67705726_A->G 1 67705726 67705726 A G snp 491.77 1/1 36 18 0 18 1.0 intronic rs10889671 IL23R AU NM_144701 exon9 c.72058-135A>G 0.882188 0.9881 Uncertain 1_67792325_G->T 1 67792325 67792325 G T snp 247.77 0/1 99 19 10 9 0.47 intronic rs183241753 IL12RB2 AU NM_001258215 exon4 c.6366-92G>T 0.0091853 0.0069 Uncertain 1_67795319_T->C 1 67795319 67795319 T C snp 3245.77 1/1 99 121 0 121 1.0 exonic rs1495963 IL12RB2 AU synonymous SNV NM_001559 exon6 c.T714C p.S238S 0.85024 0.8056 0.910349 0.9317 0.7884 0.000 P -1.083 T Likely benign 1_67852141_A->G 1 67852141 67852141 A G snp 1740.77 1/1 99 54 0 54 1.0 intronic rs12138812 IL12RB2 AU NM_001258215 exon12 c.66210-120A>G 0.632987 0.5843 Uncertain 1_67852335_G->A 1 67852335 67852335 G A snp 6776.77 1/1 99 249 0 249 1.0 exonic rs2228420 IL12RB2 AU synonymous SNV NM_001559 exon14 c.G1929A p.T643T 0.413538 0.3442 0.456020 0.5277 0.3391 Uncertain 1_67856021_A->G 1 67856021 67856021 A G snp 54.74 1/1 6 2 0 2 1.0 intronic rs2270614 IL12RB2 AU NM_001258215 exon13 c.69760+210A>G 0.414137 0.3452 Uncertain 1_67861520_C->A 1 67861520 67861520 C A snp 6352.77 1/1 99 222 0 222 1.0 exonic rs2229546 IL12RB2 AU synonymous SNV NM_001559 exon16 c.C2337A p.P779P 0.555112 0.3829 0.612948 0.6307 0.3711 Uncertain 1_67890526_A->G 1 67890526 67890526 A G snp 146.03 1/1 12 6 0 6 1.0 intronic rs6702742 SERBP1 AU NM_015640 exon5 c.11681-44A>G 0.408347 0.3383 0.454091 0.5281 0.3285 Uncertain 1_68151980_T->G 1 68151980 68151980 T G snp 1073.77 0/1 99 76 40 36 0.47 intronic rs2759219 GADD45A AU NM_001199741 exon2 c.855-52T>G 0.748003 0.6121 Uncertain 1_68152363_G->A 1 68152363 68152363 G A snp 81.78 0/1 24 4 1 3 0.75 intronic rs3783468 GADD45A AU NM_001199741 exon2 c.1093+93G>A 0.420327 0.4425 Uncertain 1_68152388_T->C 1 68152388 68152388 T C snp 54.74 1/1 6 2 0 2 1.0 intronic rs681673 GADD45A AU NM_001199741 exon2 c.1093+118T>C 0.58746 0.5823 Uncertain 1_68173264_C->T 1 68173264 68173264 C T snp 1978.77 0/1 99 184 94 90 0.49 intronic rs2295942 GNG12 AU NM_018841 exon2 c.2143-12C>T 0.413738 0.4216 0.435645 0.5066 0.4377 Uncertain 1_68603586_C->T 1 68603586 68603586 C T snp 2020.77 0/1 99 166 80 86 0.52 exonic rs983034 WLS AU nonsynonymous SNV NM_001193334 exon10 c.G1120A p.V374I 0.236621 0.1419 0.312164 0.3451 0.1421 0.45 T 0.224 P -1.010 T 0.001 T 0.001 T Pathogenic 1_68603731_A->G 1 68603731 68603731 A G snp 1429.77 1/1 99 40 0 40 1.0 ncRNA_intronic rs1831297 GNG12-AS1 AU 0.590256 0.5347 Uncertain 1_68614013_A->G 1 68614013 68614013 A G snp 3071.77 1/1 99 115 0 115 1.0 ncRNA_intronic rs2566789 GNG12-AS1 AU 0.965256 0.9871 Uncertain 1_68620762_G->A 1 68620762 68620762 G A snp 2672.77 0/1 99 250 141 109 0.44 ncRNA_intronic rs3762371 GNG12-AS1 AU 0.26258 0.1567 0.350992 0.3640 0.1572 Uncertain 1_68624878_C->T 1 68624878 68624878 C T snp 1671.77 0/1 99 117 44 73 0.62 exonic rs3748705 WLS AU synonymous SNV NM_001193334 exon2 c.G159A p.A53A 0.349641 0.4127 0.313317 0.3638 0.4601 0.0 P -1.069 T Likely benign 1_68652084_T->C 1 68652084 68652084 T C snp 46.74 1/1 6 2 0 2 1.0 ncRNA_intronic rs2772297 GNG12-AS1 AU 0.704073 0.7956 Uncertain 1_68693796_A->G 1 68693796 68693796 A G snp 56.74 1/1 6 2 0 2 1.0 intronic rs12566109 WLS AU NM_024911 exon12 c.105968-4080A>G 0.196685 0.372 Uncertain 1_68896644_G->A 1 68896644 68896644 G A snp 216.84 1/1 18 6 0 6 1.0 intronic rs932783 RPE65 AR NM_000329 exon2 c.1289-103G>A 0.563099 0.745 Uncertain 1_68896945_T->G 1 68896945 68896945 T G snp 1754.77 0/1 99 130 68 62 0.48 intronic rs12564647 RPE65 AR NM_000329 exon3 c.1506-19T>G 0.109824 0.3631 0.013994 0.0637 0.3972 CLINSIG=non-pathogenic;CLNDBN=not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000085167.2;CLNDSDB=MedGen;CLNDSDBID=CN221809 Uncertain 1_68903942_C->T 1 68903942 68903942 C T snp 1276.77 0/1 99 115 61 54 0.47 exonic rs12145904 RPE65 AR synonymous SNV NM_000329 exon10 c.G1056A p.E352E 0.223842 0.3641 0.156005 0.1565 0.3947 CLINSIG=non-pathogenic;CLNDBN=not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000085144.2;CLNDSDB=MedGen;CLNDSDBID=CN221809 Uncertain 1_68904513_A->G 1 68904513 68904513 A G snp 526.77 0/1 99 28 9 19 0.68 intronic rs12138573 RPE65 AR NM_000329 exon6 c.9166-111A>G 0.223642 0.3631 Uncertain 1_68905358_G->C 1 68905358 68905358 G C snp 2827.77 1/1 99 110 0 110 1.0 intronic rs1925955 RPE65 AR NM_000329 exon8 c.9867+33G>C 0.69349 0.8641 0.518914 0.5272 0.8806 Uncertain 1_70034263_C->G 1 70034263 70034263 C G snp 2970.77 0/1 99 250 138 112 0.45 intergenic rs72671185 DEPDC1-AS1 AU 0.127995 0.0982 Uncertain 1_70034370_-->CAGCCGCGTG 1 70034370 70034370 - CAGCCGCGTG indel 18263.7 1/1 99 164 0 164 1.0 intergenic rs11280966 DEPDC1-AS1 AU 0.885383 0.8621 0.9171 0.8812 Uncertain 1_70144056_T->C 1 70144056 70144056 T C snp 920.77 0/1 99 85 45 40 0.47 intergenic rs72938954 DEPDC1-AS1 AU 0.0984425 0.1062 0.103490 0.1818 0.2596 Uncertain 1_70225923_G->A 1 70225923 70225923 G A snp 1144.77 0/1 99 105 63 42 0.4 exonic rs1340770 LRRC7 AU synonymous SNV NM_020794 exon1 c.G36A p.V12V 0.0766773 0.127 0.046301 0.0654 0.1211 Uncertain 1_70226125_T->C 1 70226125 70226125 T C snp 884.77 0/1 99 69 34 35 0.51 intronic rs12407496 LRRC7 AU NM_020794 exon1 c.189+49T>C 0.173323 0.1419 0.159214 0.1705 0.1520 Uncertain 1_70226213_C->A 1 70226213 70226213 C A snp 71.77 0/1 99 6 3 3 0.5 intronic rs12411214 LRRC7 AU NM_020794 exon1 c.189+137C>A 0.144768 0.1419 Uncertain 1_70304758_A->G 1 70304758 70304758 A G snp 777.77 0/1 99 86 51 35 0.41 intronic rs12735430 LRRC7 AU NM_020794 exon5 c.78079+792A>G 0.352236 0.5397 0.355556 0.4147 0.5629 Uncertain 1_70397087_T->C 1 70397087 70397087 T C snp 2765.77 0/1 99 237 119 118 0.5 intronic rs7530457 LRRC7 AU NM_020794 exon6 c.171302-102T>C 0.563498 0.6776 Uncertain 1_70518558_G->T 1 70518558 70518558 G T snp 225.77 0/1 99 11 4 7 0.64 intronic rs2421317 LRRC7 AU NM_020794 exon21 c.292821-150G>T 0.182708 0.1667 Uncertain 1_70518561_A->C 1 70518561 70518561 A C snp 228.77 0/1 99 12 5 7 0.58 intronic rs2421318 LRRC7 AU NM_020794 exon21 c.292821-147A>C 0.121206 0.1637 Uncertain 1_70587360_C->T 1 70587360 70587360 C T snp 855.77 0/1 99 45 13 32 0.71 intronic rs641909 LRRC7 AU NM_020794 exon25 c.361575-102C>T 0.735224 0.628 Uncertain 1_70611347_A->G 1 70611347 70611347 A G snp 391.77 1/1 30 11 0 11 1.0 UTR3 rs595662 LRRC40 AU 0.979034 1 Uncertain 1_70883840_A->G 1 70883840 70883840 A G snp 68.77 0/1 97 8 5 3 0.38 intronic rs1145920 CTH AR,AU NM_153742 exon3 c.6617+125A>G 0.798722 0.8294 Uncertain 1_70904523_-->TGTG 1 70904523 70904523 - TGTG indel 1555.73 0/1 99 111 25 86 0.77 intronic rs112004441 CTH AR,AU NM_153742 exon10 c.27411+14insTGTG 0.372204 0.4097 Uncertain 1_70904800_G->T 1 70904800 70904800 G T snp 2763.77 0/1 99 228 108 120 0.53 exonic rs1021737 CTH AR,AU nonsynonymous SNV NM_001902 exon12 c.G1208T p.S403I 0.205272 0.2173 0.237813 0.2770 0.2130 0.12 T 0.0 P -1.095 T 0.343 T 0.206 T CLINSIG=other;CLNDBN=Homocysteine\x2c_total_plasma\x2c_elevated;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000003075.3;CLNDSDB=.;CLNDSDBID=. ID=CM041751;DIS=Altered homocysteine levels;TAG=FP;PUB=15151507 FP Pathogenic 1_71327942_A->G 1 71327942 71327942 A G snp 1182.77 0/1 99 82 33 49 0.6 intronic rs34745168 PTGER3 AU NM_198717 exon1 c.21+9400A>G 0.10004 0.2202 Uncertain 1_71328234_A->G 1 71328234 71328234 A G snp 701.77 1/1 54 18 0 18 1.0 intronic rs7533733 PTGER3 AU NM_198717 exon1 c.21+9692A>G 0.606829 0.8224 Uncertain 1_71328260_G->A 1 71328260 71328260 G A snp 74.77 0/1 99 6 3 3 0.5 intronic rs34087524 PTGER3 AU NM_198717 exon1 c.21+9718G>A 0.0904553 0.2202 Uncertain 1_71331498_A->G 1 71331498 71331498 A G snp 1728.77 1/1 99 63 0 63 1.0 intronic rs1409986 PTGER3 AU NM_198717 exon1 c.21+12956A>G 0.973442 1 0.939720 0.9413 0.9999 0.34 T 0.0 P -1.007 T Uncertain 1_71349774_C->T 1 71349774 71349774 C T snp 79.77 0/1 99 12 7 5 0.42 intronic rs13306022 PTGER3 AU NM_198717 exon1 c.21+31232C>T 0.0688898 0.1925 0.0538 0.2143 Uncertain 1_71351785_C->T 1 71351785 71351785 C T snp 1416.77 1/1 99 41 0 41 1.0 intronic rs11209707 PTGER3 AU NM_198717 exon1 c.21+33243C>T 0.285743 0.4236 Uncertain 1_71351885_C->T 1 71351885 71351885 C T snp 2206.77 0/1 99 195 98 97 0.5 intronic rs11809115 PTGER3 AU NM_198717 exon1 c.21+33343C>T 0.0686901 0.1925 Uncertain 1_71419499_C->T 1 71419499 71419499 C T snp 949.77 1/1 69 29 0 29 1.0 intronic rs571705 PTGER3 AU NM_198714 exon2 c.4+27C>T 0.867812 0.9544 0.835534 0.8551 0.9384 Uncertain 1_71440217_C->T 1 71440217 71440217 C T snp 114.77 0/1 99 8 4 4 0.5 intronic rs2072947 PTGER3 AU NM_198719 exon2 c.2659+146C>T 0.52476 0.7421 Uncertain 1_71531596_A->G 1 71531596 71531596 A G snp 255.77 0/1 99 19 10 9 0.47 ncRNA_intronic rs17090778 ZRANB2-AS1 AU 0.215455 0.4157 Uncertain 1_71533287_A->T 1 71533287 71533287 A T snp 95.28 1/1 9 4 0 4 1.0 intronic rs66461782 ZRANB2 AU NM_005455 exon3 c.1216+670A>T 0.365216 0.7133 0.218092 0.3572 0.7337 Uncertain 1_71537943_A->G 1 71537943 71537943 A G snp 1031.77 1/1 75 44 1 43 0.98 splicing rs11209745 ZRANB2 AU NM_005455 exon6 c.6537+5A>G 0.363019 0.7133 0.225551 0.3315 0.6941 Pathogenic 1_71544080_AAG->- 1 71544080 71544082 AAG - indel 1176.73 0/1 99 56 34 22 0.39 intronic rs10574763 ZRANB2 AU NM_005455 exon9 c.12738-59_12738-57delAAG 0.177716 0.2887 Uncertain 1_71546398_G->A 1 71546398 71546398 G A snp 36.78 0/1 27 3 1 2 0.67 intronic rs55669216 ZRANB2 AU NM_005455 exon11 c.15221-224G>A 0.177716 0.2887 Uncertain 1_72058367_C->T 1 72058367 72058367 C T snp 500.77 0/1 99 33 12 21 0.64 intronic rs1334004 NEGR1 AU NM_173808 exon2 c.185371-132C>T 0.84984 0.8482 Uncertain 1_72058405_T->C 1 72058405 72058405 T C snp 749.77 0/1 99 49 17 32 0.65 intronic rs1334005 NEGR1 AU NM_173808 exon2 c.185371-94T>C 0.84984 0.8482 Uncertain 1_72058543_A->T 1 72058543 72058543 A T snp 1462.77 0/1 99 122 61 61 0.5 exonic rs3795696 NEGR1 AU synonymous SNV NM_173808 exon6 c.T897A p.A299A 0.067492 0.1032 0.035291 0.0262 0.0789 Uncertain 1_72058552_G->A 1 72058552 72058552 G A snp 1603.77 0/1 99 128 62 66 0.52 exonic rs1413368 NEGR1 AU synonymous SNV NM_173808 exon6 c.C888T p.T296T 0.849641 0.8472 0.896740 0.9433 0.8724 Uncertain 1_72241925_G->A 1 72241925 72241925 G A snp 844.77 0/1 99 85 44 41 0.48 exonic rs139658965 NEGR1 AU synonymous SNV NM_173808 exon3 c.C465T p.N155N 0.00459265 0.0218 0.000077 0.0019 0.0244 Uncertain 1_72242039_G->A 1 72242039 72242039 G A snp 359.78 1/1 27 13 0 13 1.0 intronic rs6424448 NEGR1 AU NM_173808 exon5 c.368852+59G>A 0.748403 0.879 Uncertain 1_72400656_A->G 1 72400656 72400656 A G snp 408.77 0/1 99 24 10 14 0.58 intronic rs11209871 NEGR1 AU NM_173808 exon6 c.527633-105A>G 0.186502 0.4196 Uncertain 1_72747844_C->T 1 72747844 72747844 C T snp 1115.77 1/1 84 33 0 33 1.0 intronic rs3101341 NEGR1 AU NM_173808 exon7 c.874873-157C>T 0.594649 0.8631 Uncertain 1_74492769_G->T 1 74492769 74492769 G T snp 86.77 0/1 30 4 1 3 0.75 intronic rs1384884 LRRIQ3 AU NM_001105659 exon1 c.157+116G>T 0.811502 0.9573 Uncertain 1_74506942_G->A 1 74506942 74506942 G A snp 348.77 0/1 99 29 11 18 0.62 exonic rs79435376 LRRIQ3 AU nonsynonymous SNV NM_001105659 exon7 c.C1673T p.A558V 0.0597045 0.0546 0.033937 0.0538 0.0429 0.27 T 1 N -0.901 T 0.049 T 0.026 T Pathogenic 1_74507315_C->T 1 74507315 74507315 C T snp 1126.77 0/1 99 103 60 43 0.42 exonic rs17094777 LRRIQ3 AU nonsynonymous SNV NM_001105659 exon7 c.G1300A p.E434K 0.0597045 0.0546 0.034076 0.0534 0.0425 0.06 T 1 N -0.956 T 0.18 T 0.044 T Pathogenic 1_74507711_T->G 1 74507711 74507711 T G snp 34.77 0/1 63 6 4 2 0.33 intronic rs7538410 LRRIQ3 AU NM_001105659 exon2 c.15121+94T>G 0.836661 0.9573 Uncertain 1_74550023_A->T 1 74550023 74550023 A T snp 162.78 0/1 24 6 1 5 0.83 intronic rs11210406 LRRIQ3 AU NM_001105659 exon3 c.47978+9549A>T 0.139177 0.0427 Uncertain 1_74575182_C->T 1 74575182 74575182 C T snp 156.77 0/1 99 20 11 9 0.45 exonic rs1340472 LRRIQ3 AU nonsynonymous SNV NM_001105659 exon5 c.G763A p.A255T 0.804912 0.9573 0.822553 0.8853 0.9674 1 T 0.0 P -0.974 T 0.0 T 0.0 T Pathogenic 1_74646514_C->T 1 74646514 74646514 C T snp 2470.77 1/1 99 77 0 77 1.0 intronic rs6701961 LRRIQ3 AU NM_001105659 exon6 c.155725-1707C>T 0.997804 1 0.998029 Uncertain 1_74648408_C->T 1 74648408 74648408 C T snp 1439.77 0/1 99 173 112 61 0.35 exonic rs17094900 LRRIQ3 AU nonsynonymous SNV NM_001105659 exon3 c.G387A p.M129I 0.0694888 0.1012 0.033605 0.0559 0.0799 0.09 T 0.949 D -1.129 T 0.036 T 0.02 T Pathogenic 1_74669973_T->G 1 74669973 74669973 T G snp 126.03 0/1 12 6 1 5 0.83 intronic rs9425024 FPGT AU NM_003838 exon4 c.6151-101T>G 0.832069 0.9573 Uncertain 1_74701295_T->A 1 74701295 74701295 T A snp 224.84 1/1 18 6 0 6 1.0 intronic rs505508 FPGT-TNNI3K AU NM_001112808 exon4 c.37862-490T>A 0.976837 1 Uncertain 1_74797140_G->C 1 74797140 74797140 G C snp 2691.77 0/1 99 199 89 110 0.55 exonic rs34874695 FPGT-TNNI3K AU nonsynonymous SNV NM_015978 exon6 c.G451C p.D151H 0.00299521 0.0149 0.0005 0.0062 0.02 T 1.000 D -0.868 T 0.026 T 0.029 T Pathogenic 1_74801864_A->G 1 74801864 74801864 A G snp 900.77 0/1 99 56 23 33 0.59 intronic rs11210450 FPGT-TNNI3K AU NM_001112808 exon9 c.137910+31A>G 0.113019 0.1062 0.079898 0.0683 0.0927 Uncertain 1_74819077_T->G 1 74819077 74819077 T G snp 3363.77 1/1 99 137 0 137 1.0 intronic rs6424586 FPGT-TNNI3K AU NM_001112808 exon12 c.155121+33T>G 0.939097 1 0.921882 0.9429 0.9981 Uncertain 1_74836228_T->A 1 74836228 74836228 T A snp 628.77 0/1 99 31 10 21 0.68 intronic rs3765667 FPGT-TNNI3K AU NM_001112808 exon19 c.172153+152T>A 0.0852636 0.1052 Uncertain 1_74841173_A->C 1 74841173 74841173 A C snp 219.84 1/1 18 8 0 8 1.0 intronic rs2880795 FPGT-TNNI3K AU NM_001112808 exon19 c.172153+5097A>C 0.997204 1 Uncertain 1_74929170_T->C 1 74929170 74929170 T C snp 1901.77 0/1 99 160 79 81 0.51 exonic rs3737564 FPGT-TNNI3K AU nonsynonymous SNV NM_015978 exon21 c.T2057C p.I686T 0.0209665 0.0486 0.004075 0.0169 0.0441 0 D 1.000 D 0.007 D 0.763 T 0.272 P Pathogenic 1_74936374_A->G 1 74936374 74936374 A G snp 4148.77 1/1 99 135 1 134 0.99 intronic rs596204 FPGT-TNNI3K AU NM_001199327 exon24 c.266686+5765A>G 0.760982 0.8681 0.8333 1 Uncertain 1_74936454_G->C 1 74936454 74936454 G C snp 2711.77 0/1 99 250 139 111 0.44 intronic rs491922 FPGT-TNNI3K AU NM_001199327 exon24 c.266686+5845G>C 0.576478 0.6855 0.8889 . Uncertain 1_74937749_A->G 1 74937749 74937749 A G snp 2633.77 0/1 99 236 122 114 0.48 intronic rs3765674 FPGT-TNNI3K AU NM_001199327 exon24 c.266686+7140A>G 0.576877 0.6855 0.5861 0.6980 Uncertain 1_74941210_C->T 1 74941210 74941210 C T snp 3217.75 0/1 99 250 133 117 0.47 intronic rs648614 FPGT-TNNI3K AU NM_001199327 exon24 c.266686+10601C>T 0.575479 0.6806 0.5783 0.6926 0.09 T 0.0 P -0.952 T Uncertain 1_74941293_G->A 1 74941293 74941293 G A snp 7962.77 1/1 99 250 0 250 1.0 intronic rs649058 FPGT-TNNI3K AU NM_001199327 exon24 c.266686+10684G>A 0.760783 0.8681 0.6540 0.8760 0.15 T 1.000 P -1.035 T Uncertain 1_74955069_T->G 1 74955069 74955069 T G snp 855.77 0/1 99 74 38 36 0.49 intronic rs9326114 FPGT-TNNI3K AU NM_001112808 exon24 c.291009+137T>G 0.117013 0.0496 Uncertain 1_74957696_A->G 1 74957696 74957696 A G snp 1196.77 0/1 99 100 54 46 0.46 intronic rs3819944 FPGT-TNNI3K AU NM_001112808 exon25 c.293857-84A>G 0.131589 0.0496 Uncertain 1_75006027_A->G 1 75006027 75006027 A G snp 2050.77 0/1 99 159 72 87 0.55 intronic rs3895907 FPGT-TNNI3K AU NM_001112808 exon26 c.342074+30A>G 0.324481 0.1468 0.444641 0.4555 0.1557 Uncertain 1_75006076_G->A 1 75006076 75006076 G A snp 998.77 0/1 99 76 40 36 0.47 intronic rs3845348 FPGT-TNNI3K AU NM_001112808 exon26 c.342074+79G>A 0.916334 0.8938 Uncertain 1_75036783_T->C 1 75036783 75036783 T C snp 3020.77 1/1 99 102 0 102 1.0 UTR3 rs9326115 ERICH3 AU 0.97504 1 0.972320 0.9917 1 Uncertain 1_75036812_C->T 1 75036812 75036812 C T snp 4107.77 1/1 99 146 0 146 1.0 exonic rs9326116 ERICH3 AU nonsynonymous SNV NM_001002912 exon14 c.G4582A p.V1528M 0.97484 1 0.972244 0.9918 1 0.22 T 0.0 P -0.929 T 0.005 T 0.006 T Pathogenic 1_75037845_A->G 1 75037845 75037845 A G snp 1989.77 0/1 99 172 94 78 0.45 exonic rs12723334 ERICH3 AU synonymous SNV NM_001002912 exon14 c.T3549C p.S1183S 0.3752 0.5843 0.329079 0.3761 0.5808 Uncertain 1_75037858_CCT->- 1 75037858 75037860 CCT - indel 4378.73 0/1 99 174 76 98 0.56 exonic rs10539747 ERICH3 AU nonframeshift deletion NM_001002912 exon14 c.3534_3536del p.1178_1179del 0.123602 0.2212 0.081536 0.1169 0.2115 Uncertain 1_75038228_A->C 1 75038228 75038228 A C snp 3030.77 0/1 99 250 127 123 0.49 exonic rs11580409 ERICH3 AU nonsynonymous SNV NM_001002912 exon14 c.T3166G p.L1056V 0.375799 0.5794 0.331232 0.3785 0.5771 0.37 T 0.0 P -0.900 T 0.0 T 0.0 T Pathogenic 1_75055419_T->C 1 75055419 75055419 T C snp 3201.82 0/1 99 249 134 115 0.46 exonic rs2305549 ERICH3 AU nonsynonymous SNV NM_001002912 exon12 c.A2072G p.H691R 0.117612 0.2252 0.072044 0.1095 0.2168 0.52 T 0.0 P -0.970 T 0.664 T 0.244 P Pathogenic 1_75086412_G->C 1 75086412 75086412 G C snp 1265.77 0/1 99 145 86 59 0.41 splicing rs41289218 ERICH3 AU NM_001002912 exon8 c.49617-5G>C 0.171925 0.2659 0.096571 0.1602 0.2437 Pathogenic 1_75108863_A->C 1 75108863 75108863 A C snp 447.77 0/1 99 36 19 17 0.47 intronic rs623171 ERICH3 AU NM_001002912 exon12 c.71982+81A>C 0.674521 0.3919 Uncertain 1_75132462_-->A 1 75132462 75132462 - A indel 1392.73 0/1 99 133 63 70 0.53 intronic rs397860285 ERICH3 AU NM_001002912 exon15 c.102380-6718insA 0.319888 0.6766 Uncertain 1_75172757_A->- 1 75172757 75172757 A - indel 408.73 0/1 99 59 22 37 0.63 intronic rs10601033 CRYZ AU NM_001889 exon3 c.807-29delA 0.351438 0.4177 0.3050 0.5128 Uncertain 1_75175886_T->C 1 75175886 75175886 T C snp 878.77 0/1 99 99 59 40 0.4 exonic rs3819946 CRYZ AU nonsynonymous SNV NM_001134759 exon4 c.A115G p.I39V 0.460663 0.7669 0.238428 0.2799 0.7782 1 T 0.000 P -0.946 T 0.0 T 0.001 T Pathogenic 1_75190452_C->T 1 75190452 75190452 C T snp 1550.77 0/1 99 187 118 69 0.37 exonic rs1051122 CRYZ AU synonymous SNV NM_001130043 exon2 c.G54A p.G18G 0.773562 0.7728 0.766877 0.7529 0.7896 Uncertain 1_75199152_C->T 1 75199152 75199152 C T snp 2007.77 1/1 99 66 0 66 1.0 intronic rs277373 TYW3 AU NM_138467 exon1 c.174+50C>T 0.996006 1 0.995694 0.9989 1 Uncertain 1_75199214_G->A 1 75199214 75199214 G A snp 256.77 0/1 99 16 8 8 0.5 intronic rs745108 TYW3 AU NM_138467 exon1 c.174+112G>A 0.359225 0.7063 Uncertain 1_75214441_A->G 1 75214441 75214441 A G snp 867.77 0/1 99 119 78 41 0.34 exonic rs1133891 TYW3 AU nonsynonymous SNV NM_001162916 exon3 c.A262G p.M88V 0.359225 0.7063 0.149854 0.2399 0.7169 1 T 1.0 P -0.958 T 0.0 T 0.0 T Pathogenic 1_75603055_A->G 1 75603055 75603055 A G snp 855.77 1/1 63 25 0 25 1.0 intronic rs1526503 LHX8 AU NM_001256114 exon3 c.647+109A>G 0.999401 1 Uncertain 1_75609049_A->C 1 75609049 75609049 A C snp 820.77 1/1 60 27 0 27 1.0 intronic rs12041465 LHX8 AU NM_001256114 exon5 c.6724+26A>C 0.322484 0.7956 0.166102 0.2856 0.7942 Uncertain 1_75626420_A->T 1 75626420 75626420 A T snp 3724.77 1/1 99 116 0 116 1.0 intronic rs2462955 LHX8 AU NM_001256114 exon9 c.24204-83A>T 0.938898 0.9881 Uncertain 1_75669619_-->TTG 1 75669619 75669619 - TTG indel 348.75 1/1 24 10 0 10 1.0 intronic rs149321205 SLC44A5 AU NM_001130058 exon1 c.107+101insTTG 0.981629 1 Uncertain 1_75672376_A->G 1 75672376 75672376 A G snp 7108.77 1/1 99 246 0 246 1.0 exonic rs1948874 SLC44A5 AU synonymous SNV NM_152697 exon24 c.T2076C p.S692S 0.440695 0.8323 0.319852 0.4054 0.8216 Uncertain 1_75679496_A->T 1 75679496 75679496 A T snp 1087.77 0/1 99 81 37 44 0.54 intronic rs78929216 SLC44A5 AU NM_152697 exon3 c.7187+18A>T 0.0181709 0.0883 0.000154 0.0083 0.1109 Uncertain 1_75680545_T->G 1 75680545 75680545 T G snp 303.78 1/1 24 9 0 9 1.0 intronic rs688513 SLC44A5 AU NM_152697 exon5 c.8072+182T>G 0.819289 0.9871 Uncertain 1_75680565_G->A 1 75680565 75680565 G A snp 202.84 1/1 18 6 0 6 1.0 intronic rs688539 SLC44A5 AU NM_152697 exon5 c.8072+202G>A 0.819289 0.9871 Uncertain 1_75681351_A->T 1 75681351 75681351 A T snp 345.78 1/1 27 9 0 9 1.0 intronic rs594470 SLC44A5 AU NM_152697 exon6 c.9147-87A>T 0.819289 0.9871 Uncertain 1_75681511_T->C 1 75681511 75681511 T C snp 2132.77 1/1 99 90 0 90 1.0 exonic rs595009 SLC44A5 AU synonymous SNV NM_001130058 exon19 c.A1656G p.Q552Q 0.896565 0.996 0.849200 0.8680 0.9945 Uncertain 1_75684529_A->G 1 75684529 75684529 A G snp 562.77 1/1 42 15 0 15 1.0 intronic rs610159 SLC44A5 AU NM_152697 exon8 c.12146+92A>G 0.915335 0.996 Uncertain 1_75685643_T->C 1 75685643 75685643 T C snp 1025.77 1/1 75 31 0 31 1.0 intronic rs12042874 SLC44A5 AU NM_152697 exon10 c.13286+66T>C 0.507788 0.8413 Uncertain 1_75716925_C->T 1 75716925 75716925 C T snp 2529.77 1/1 99 88 0 88 1.0 exonic rs588098 SLC44A5 AU synonymous SNV NM_001130058 exon7 c.G315A p.V105V 0.744609 0.9494 0.678225 0.7398 0.9316 Uncertain 1_75740845_A->G 1 75740845 75740845 A G snp 525.77 1/1 39 16 0 16 1.0 intronic rs1144298 SLC44A5 AU NM_152697 exon19 c.68436+118A>G 0.425519 0.8661 Uncertain 1_75766186_G->A 1 75766186 75766186 G A snp 133.03 1/1 12 4 0 4 1.0 intronic rs623850 SLC44A5 AU NM_152697 exon20 c.94005-110G>A 0.673323 0.8363 Uncertain 1_75805327_A->T 1 75805327 75805327 A T snp 615.77 0/1 99 66 39 27 0.41 intronic rs183663855 SLC44A5 AU NM_152697 exon21 c.133024+12A>T 0.00139776 0.002 0.000154 0.0020 0.0006 Uncertain 1_75823084_C->T 1 75823084 75823084 C T snp 415.77 1/1 33 11 0 11 1.0 intronic rs1249833 SLC44A5 AU NM_152697 exon21 c.133024+17769C>T 0.938898 1 Uncertain 1_76143505_T->C 1 76143505 76143505 T C snp 472.77 0/1 99 47 25 22 0.47 intergenic rs1746748 SLC44A5 AU 0.901158 0.753 0.9351 0.8305 Uncertain 1_76194230_T->- 1 76194230 76194230 T - indel 2082.73 1/1 99 60 0 60 1.0 intronic rs11316888 ACADM AR NM_000016 exon2 c.3701+57delT 1 1 Uncertain 1_76194306_A->G 1 76194306 76194306 A G snp 253.77 0/1 99 14 5 9 0.64 intronic rs1146572 ACADM AR NM_000016 exon2 c.3701+133A>G 0.895966 0.747 Uncertain 1_76234886_A->G 1 76234886 76234886 A G snp 282.77 0/1 99 24 9 15 0.63 intergenic rs1146593 ACADM AR 0.884585 0.744 0.9248 0.7803 Uncertain 1_76235001_A->G 1 76235001 76235001 A G snp 117.78 0/1 27 5 1 4 0.8 intergenic rs1826978 ACADM AR 0.350439 0.6994 Uncertain 1_76257892_A->T 1 76257892 76257892 A T snp 1302.77 0/1 99 111 53 58 0.52 exonic rs12703 RABGGTB AU synonymous SNV NM_004582 exon7 c.A606T p.A202A 0.897165 0.7371 0.949946 0.8991 0.7359 Uncertain 1_76272837_A->G 1 76272837 76272837 A G snp 1221.77 0/1 99 97 50 47 0.48 intronic rs3737574 MSH4 AU NM_002440 exon3 c.10156+11A>G 0.330272 0.6895 0.224854 0.3315 0.6955 Uncertain 1_76313874_C->T 1 76313874 76313874 C T snp 568.77 0/1 99 68 42 26 0.38 intronic rs2047435 MSH4 AU NM_002440 exon8 c.51223-19C>T 0.233027 0.2698 0.185977 0.1866 0.2716 Uncertain 1_76333172_T->C 1 76333172 76333172 T C snp 302.77 0/1 99 47 31 16 0.34 intronic rs3765682 MSH4 AU NM_002440 exon9 c.70528-26T>C 0.102835 0.2639 0.051108 0.1015 0.2638 Uncertain 1_76344011_C->A 1 76344011 76344011 C A snp 1415.77 1/1 99 47 0 47 1.0 intronic rs1493367 MSH4 AU NM_002440 exon11 c.81333+8C>A 0.792732 0.9851 0.741119 0.7967 0.9875 Uncertain 1_76344705_T->C 1 76344705 76344705 T C snp 604.77 0/1 99 70 39 31 0.44 exonic rs5745448 MSH4 AU synonymous SNV NM_002440 exon12 c.T1569C p.Y523Y 0.33746 0.6964 0.243310 0.3450 0.6986 Uncertain 1_76344711_A->T 1 76344711 76344711 A T snp 1942.77 1/1 99 73 1 72 0.99 exonic rs5745449 MSH4 AU synonymous SNV NM_002440 exon12 c.A1575T p.L525L 0.792732 0.9851 0.741541 0.7963 0.9873 Uncertain 1_76344856_T->C 1 76344856 76344856 T C snp 777.77 0/1 99 44 17 27 0.61 intronic rs5745451 MSH4 AU NM_002440 exon12 c.82143+43T>C 0.232428 0.2679 0.186422 0.1887 0.2768 Uncertain 1_76344920_G->A 1 76344920 76344920 G A snp 182.9 1/1 15 5 0 5 1.0 intronic rs5745453 MSH4 AU NM_002440 exon12 c.82143+107G>A 0.95647 0.999 Uncertain 1_76345640_G->T 1 76345640 76345640 G T snp 416.77 0/1 99 37 20 17 0.46 intronic rs2307077 MSH4 AU NM_002440 exon13 c.83064-94G>T 0.560304 0.7173 Uncertain 1_76345884_T->A 1 76345884 76345884 T A snp 239.77 0/1 99 13 4 9 0.69 intronic rs2307078 MSH4 AU NM_002440 exon13 c.83168+46T>A 0.33746 0.6964 0.231483 0.3532 0.6985 Uncertain 1_76346832_T->C 1 76346832 76346832 T C snp 110.77 0/1 99 11 7 4 0.36 intronic rs5745465 MSH4 AU NM_002440 exon14 c.84260-98T>C 0.101238 0.2619 Uncertain 1_76346920_-->AT 1 76346920 76346920 - AT indel 2933.73 1/1 99 54 0 54 1.0 intronic rs5745466 MSH4 AU NM_002440 exon14 c.84260-10insAT 0.956669 1 0.955911 0.9880 1 Uncertain 1_76365191_C->A 1 76365191 76365191 C A snp 227.77 0/1 99 19 10 9 0.47 intronic rs5745544 MSH4 AU NM_002440 exon19 c.102632-111C>A 0.288738 0.6944 Uncertain 1_76378360_TT->- 1 76378360 76378361 TT - indel 675.73 1/1 65 25 0 25 1.0 intronic MSH4 AU NM_002440 exon20 c.115710-20_115710-19delTT 0.166933 0.255 0.2320 0.4921 Uncertain 1_76378363_T->A 1 76378363 76378363 T A snp 163.77 0/1 99 31 22 9 0.29 intronic rs28693610 MSH4 AU NM_002440 exon20 c.115710-17T>A 0.30631 0.5724 0.056818 0.2635 0.3929 Uncertain 1_76387748_T->A 1 76387748 76387748 T A snp 967.77 0/1 99 85 42 43 0.51 intronic rs12567390 ASB17 AU NM_080868 exon2 c.3128-16T>A 0.336661 0.7054 0.228049 0.3688 0.7077 Uncertain 1_76387774_C->T 1 76387774 76387774 C T snp 1539.77 0/1 99 125 63 62 0.5 exonic rs142146544 ASB17 AU synonymous SNV NM_080868 exon2 c.G672A p.K224K 0.00159744 0.002 0.000231 0.0043 0.0005 Uncertain 1_76397972_C->T 1 76397972 76397972 C T snp 1835.77 0/1 99 136 67 69 0.51 exonic rs3795251 ASB17 AU nonsynonymous SNV NM_080868 exon1 c.G5A p.S2N 0.396565 0.7073 0.300077 0.3856 0.7095 0.22 T 0.010 P -1.034 T 0.002 T 0.002 T Pathogenic 1_76608520_C->T 1 76608520 76608520 C T snp 81.77 0/1 99 80 66 14 0.17 intronic rs777951850 ST6GALNAC3 AU NM_001160011 exon1 c.18+67951C>T 0.0009 0 Uncertain 1_76608691_G->T 1 76608691 76608691 G T snp 1052.77 0/1 99 86 42 44 0.51 intronic rs12064337 ST6GALNAC3 AU NM_001160011 exon1 c.18+68122G>T 0.210264 0.0595 Uncertain 1_76608777_C->T 1 76608777 76608777 C T snp 388.77 0/1 87 16 4 12 0.75 intronic rs184095 ST6GALNAC3 AU NM_001160011 exon1 c.18+68208C>T 0.613219 0.8581 Uncertain 1_76771475_G->T 1 76771475 76771475 G T snp 1300.77 1/1 93 43 0 43 1.0 intronic rs10782610 ST6GALNAC3 AU NM_001160011 exon2 c.238938-8014G>T 0.697484 0.7103 Uncertain 1_76771495_G->C 1 76771495 76771495 G C snp 883.77 0/1 99 64 26 38 0.59 intronic rs11162118 ST6GALNAC3 AU NM_001160011 exon2 c.238938-7994G>C 0.256589 0.4444 Uncertain 1_76775659_G->T 1 76775659 76775659 G T snp 1892.77 0/1 99 188 111 77 0.41 intronic rs117283537 ST6GALNAC3 AU NM_001160011 exon2 c.238938-3830G>T 0.00758786 0.0367 0.0042 0.0525 1 N -1.000 T Uncertain 1_76878156_C->T 1 76878156 76878156 C T snp 1122.77 0/1 99 106 58 48 0.45 intronic rs17098942 ST6GALNAC3 AU NM_001160011 exon3 c.337551+54C>T 0.251997 0.3988 Uncertain 1_77042405_G->A 1 77042405 77042405 G A snp 1091.77 0/1 99 76 38 38 0.5 intronic rs315029 ST6GALNAC3 AU NM_001160011 exon4 c.501979-125G>A 0.300719 0.2579 Uncertain 1_77092972_A->G 1 77092972 77092972 A G snp 599.77 1/1 45 16 0 16 1.0 intronic rs12562880 ST6GALNAC3 AU NM_152996 exon4 c.552585-164A>G 0.183307 0.4097 Uncertain 1_77627096_G->A 1 77627096 77627096 G A snp 1077.77 1/1 78 37 0 37 1.0 splicing rs839825 PIGK AU NM_005482 exon4 c.69032+6G>A 0.988618 1 0.987613 0.9967 1 Pathogenic 1_77627450_T->C 1 77627450 77627450 T C snp 252.77 0/1 99 20 12 8 0.4 intronic rs17099983 PIGK AU NM_005482 exon5 c.69338+54T>C 0.0948482 0.1558 Uncertain 1_77629444_T->C 1 77629444 77629444 T C snp 216.77 0/1 99 20 12 8 0.4 intronic rs2293253 PIGK AU NM_005482 exon6 c.71472-86T>C 0.0948482 0.1558 Uncertain 1_77634948_G->A 1 77634948 77634948 G A snp 2983.77 1/1 99 110 0 110 1.0 exonic rs1779199 PIGK AU synonymous SNV NM_005482 exon4 c.C372T p.Y124Y 0.986621 1 0.983159 0.9955 1 Uncertain 1_77752937_C->T 1 77752937 77752937 C T snp 56.74 1/1 6 2 0 2 1.0 intronic rs4033037 AK5 AU NM_174858 exon2 c.4814+125C>T 0.158746 0.2143 Uncertain 1_77763542_G->A 1 77763542 77763542 G A snp 1295.77 1/1 93 47 0 47 1.0 exonic rs1167206 AK5 AU synonymous SNV NM_012093 exon5 c.G531A p.K177K 0.978834 1 0.983930 0.9955 1 Uncertain 1_77883412_C->T 1 77883412 77883412 C T snp 635.77 0/1 99 44 17 27 0.61 intronic rs1532507 AK5 AU NM_174858 exon8 c.135402+12C>T 0.125399 0.1111 0.129365 0.1383 0.1263 Uncertain 1_77987778_G->A 1 77987778 77987778 G A snp 218.77 0/1 99 18 11 7 0.39 intronic rs76689814 AK5 AU NM_174858 exon12 c.239630+150G>A 0.0081869 0.0407 Uncertain 1_78001881_T->C 1 78001881 78001881 T C snp 124.03 1/1 12 6 0 6 1.0 intronic rs10873948 AK5 AU NM_174858 exon13 c.253725+158T>C 0.971446 1 Uncertain 1_78024284_T->C 1 78024284 78024284 T C snp 790.77 1/1 57 33 0 33 1.0 splicing rs6675743 AK5 AU NM_174858 exon14 c.276288-2T>C 0.685304 0.7411 0.716823 0.7462 0.7433 Pathogenic 1_78024345_-->TAT 1 78024345 78024345 - TAT indel 3309.73 1/1 99 60 0 60 1.0 exonic rs6485 AK5 AU nonframeshift insertion NM_012093 exon14 c.1601_1602insTAT p.S534delinsSI 0.619609 0.7411 0.640632 0.7135 0.7415 Uncertain 1_78031690_G->A 1 78031690 78031690 G A snp 691.77 0/1 99 54 29 25 0.46 intronic rs2291689 ZZZ3 AU NM_015534 exon2 c.441-75G>A 0.0644968 0.1379 Uncertain 1_78031994_A->G 1 78031994 78031994 A G snp 169.77 0/1 99 15 8 7 0.47 intronic rs7552291 ZZZ3 AU NM_015534 exon2 c.542+128A>G 0.544928 0.5992 Uncertain 1_78033982_AAATG->- 1 78033982 78033986 AAATG - indel 512.73 0/1 99 20 12 8 0.4 intronic rs145860524 ZZZ3 AU NM_015534 exon3 c.2692-34_2692-30delAAATG 0.536142 0.5992 0.601025 0.6615 0.6241 Uncertain 1_78045369_G->A 1 78045369 78045369 G A snp 873.77 1/1 66 28 0 28 1.0 intronic rs1565852 ZZZ3 AU NM_015534 exon6 c.13989+56G>A 0.633187 0.7381 Uncertain 1_78047628_T->G 1 78047628 78047628 T G snp 776.77 0/1 99 60 29 31 0.52 intronic rs2270539 ZZZ3 AU NM_015534 exon9 c.16339-35T>G 0.0804712 0.1399 0.063010 0.0396 0.1151 Uncertain 1_78178976_T->A 1 78178976 78178976 T A snp 512.77 0/1 99 46 24 22 0.48 intronic rs6603958 USP33 AU NM_201626 exon2 c.1547+10T>A 0.492612 0.4087 0.428033 0.3660 0.3803 Uncertain 1_78200005_T->C 1 78200005 78200005 T C snp 476.77 0/1 99 24 6 18 0.75 intronic rs3767037 USP33 AU NM_201626 exon15 c.22612-26T>C 0.491214 0.4097 0.430005 0.5015 0.5489 Uncertain 1_78201745_G->T 1 78201745 78201745 G T snp 694.77 0/1 99 72 37 35 0.49 exonic rs2296227 USP33 AU synonymous SNV NM_201624 exon6 c.C450A p.A150A 0.489417 0.4077 0.428571 0.3660 0.3797 Uncertain 1_78272902_G->A 1 78272902 78272902 G A snp 46.77 0/1 33 3 1 2 0.67 intronic rs4949822 FAM73A AU NM_198549 exon5 c.27446+116G>A 0.572484 0.619 Uncertain 1_78281002_T->C 1 78281002 78281002 T C snp 362.77 0/1 99 20 7 13 0.65 intronic rs11162386 FAM73A AU NM_198549 exon7 c.35576+86T>C 0.582668 0.62 Uncertain 1_78383467_G->A 1 78383467 78383467 G A snp 248.77 0/1 99 28 17 11 0.39 intronic rs1749913 NEXN AU,AD NM_144573 exon3 c.1651+25G>A 0.763778 0.7669 0.825503 0.8117 0.7990 Uncertain 1_78399207_C->G 1 78399207 78399207 C G snp 40.77 0/1 69 9 6 3 0.33 intronic rs4483454 NEXN AU,AD NM_001172309 exon9 c.17373+43C>G 0.664537 0.7669 0.718993 0.7599 0.8027 Uncertain 1_78426231_A->G 1 78426231 78426231 A G snp 185.9 1/1 15 7 0 7 1.0 intronic rs2296455 FUBP1 AU NM_003902 exon6 c.11730+51A>G 0.113219 0.1429 0.075096 0.0940 0.1345 Uncertain 1_78426284_T->C 1 78426284 78426284 T C snp 96.28 1/1 9 3 0 3 1.0 intronic rs2296454 FUBP1 AU NM_003902 exon6 c.11730+104T>C 0.335663 0.2331 Uncertain 1_78430689_-->G 1 78430689 78430689 - G indel 5249.73 1/1 99 130 1 129 0.99 intronic rs11409017 FUBP1 AU NM_003902 exon12 c.16203+36insG 0.9998 1 0.9999 0.9999 Uncertain 1_78432503_G->C 1 78432503 78432503 G C snp 880.77 0/1 99 78 35 43 0.55 intronic rs3736909 FUBP1 AU NM_003902 exon15 c.18117-64G>C 0.335663 0.2331 0.278703 Uncertain 1_78478675_G->A 1 78478675 78478675 G A snp 364.77 0/1 99 37 24 13 0.35 intronic rs3790586 DNAJB4 AU NM_007034 exon2 c.7940-59G>A 0.665935 0.7708 Uncertain 1_78481640_G->A 1 78481640 78481640 G A snp 286.77 0/1 99 19 10 9 0.47 intronic rs1039863 DNAJB4 AU NM_007034 exon3 c.10903-57G>A 0.666134 0.7708 Uncertain 1_78560583_G->A 1 78560583 78560583 G A snp 512.77 0/1 99 35 16 19 0.54 intronic rs565164 GIPC2 AU NM_001304725 exon3 c.49875-52G>A 0.238219 0.504 Uncertain 1_78578177_T->C 1 78578177 78578177 T C snp 2634.77 1/1 99 89 0 89 1.0 intronic rs6666954 GIPC2 AU NM_001304725 exon4 c.74316-6899T>C 0.448882 0.629 0.372864 0.3224 0.6258 Uncertain 1_78585086_T->C 1 78585086 78585086 T C snp 4517.77 1/1 99 169 0 169 1.0 exonic rs540742 GIPC2 AU nonsynonymous SNV NM_001304725 exon4 c.T395C p.L132P 0.307109 0.6637 0.220514 0.2531 0.6679 1 T 0.0 P -1.038 T 0.0 T 0.0 T Pathogenic 1_78601465_-->T 1 78601465 78601465 - T indel 1934.73 1/1 99 76 1 75 0.99 UTR3 rs3838409 GIPC2 AU 0.357827 0.7837 0.247005 0.2874 0.7811 ID=COSN229922;OCCURENCE=1(NS) Uncertain 1_79093818_A->G 1 79093818 79093818 A G snp 3702.77 1/1 99 128 0 128 1.0 exonic rs273259 IFI44L AU nonsynonymous SNV NM_006820 exon2 c.A218G p.H73R 0.444888 0.751 0.343688 0.3820 0.7572 0.58 T 0.0 P -1.062 T 0.0 T 0.0 T Pathogenic 1_79094081_T->A 1 79094081 79094081 T A snp 359.78 1/1 27 12 0 12 1.0 splicing rs1333973 IFI44L AU NM_006820 exon2 c.478+3T>A 0.428514 0.751 0.311878 0.3824 0.7566 Pathogenic 1_79094593_A->G 1 79094593 79094593 A G snp 1993.77 1/1 99 75 0 75 1.0 intronic rs273257 IFI44L AU NM_006820 exon3 c.1035-42A>G 0.99361 1 0.987533 0.9855 1 Uncertain 1_79095339_A->C 1 79095339 79095339 A C snp 2577.77 1/1 99 87 0 87 1.0 intronic rs273256 IFI44L AU NM_006820 exon4 c.1804-65A>C 0.472843 0.751 Uncertain 1_79095526_G->A 1 79095526 79095526 G A snp 4350.77 1/1 99 163 2 161 0.99 exonic rs3820093 IFI44L AU nonsynonymous SNV NM_006820 exon4 c.G649A p.V217I 0.146366 0.4157 0.069660 0.1101 0.4190 0.32 T 1.000 P -0.953 T 0.773 T 0.297 P Pathogenic 1_79102726_C->T 1 79102726 79102726 C T snp 4572.77 1/1 99 163 0 163 1.0 exonic rs1981071 IFI44L AU nonsynonymous SNV NM_006820 exon6 c.C886T p.R296C 0.129992 0.4147 0.054513 0.0893 0.4182 0.21 T 0.0 P -1.038 T 0.0 T 0.0 T Pathogenic 1_79106899_T->C 1 79106899 79106899 T C snp 1441.77 1/1 99 53 0 53 1.0 intronic rs273252 IFI44L AU NM_006820 exon7 c.13206+93T>C 0.46905 0.751 Uncertain 1_79355596_A->G 1 79355596 79355596 A G snp 966.77 1/1 69 37 0 37 1.0 UTR3 rs1061728 ADGRL4 AU 0.758387 0.6458 Uncertain 1_79383301_A->- 1 79383301 79383301 A - indel 465.73 1/1 36 12 0 12 1.0 intronic rs397688783 ADGRL4 AU NM_022159 exon4 c.26480-17delA 0.436102 0.3512 0.469415 0.5596 0.4192 Uncertain 1_79383458_A->T 1 79383458 79383458 A T snp 2336.77 1/1 99 82 0 82 1.0 intronic rs12569007 ADGRL4 AU NM_022159 exon5 c.26676-56A>T 0.636182 0.7044 Uncertain 1_79392756_C->A 1 79392756 79392756 C A snp 248.8 1/1 21 8 0 8 1.0 exonic rs12754818 ADGRL4 AU nonsynonymous SNV NM_022159 exon8 c.G898T p.V300L 0.620607 0.7044 0.604586 0.6478 0.6999 0.000 P -0.917 T 0.0 T 0.001 T Pathogenic 1_79401927_A->G 1 79401927 79401927 A G snp 1865.77 1/1 99 68 0 68 1.0 intronic rs61770681 ADGRL4 AU NM_022159 exon9 c.45141-52A>G 0.620807 0.7044 Uncertain 1_79403335_T->C 1 79403335 79403335 T C snp 86.28 1/1 9 3 0 3 1.0 intronic rs1352555 ADGRL4 AU NM_022159 exon10 c.46653-156T>C 0.711062 0.7688 Uncertain 1_79403751_T->G 1 79403751 79403751 T G snp 2478.77 1/1 99 87 0 87 1.0 intronic rs985277 ADGRL4 AU NM_022159 exon11 c.46946-33T>G 0.592252 0.7034 0.558734 0.6127 0.6993 Uncertain 1_79411888_T->C 1 79411888 79411888 T C snp 1522.77 1/1 99 51 0 51 1.0 intronic rs723898 ADGRL4 AU NM_022159 exon13 c.55120-70T>C 0.456669 0.3552 Uncertain 1_81967466_-->CAG 1 81967466 81967466 - CAG indel 515.73 0/1 99 35 22 13 0.37 intergenic rs111927236 LOC101927412 AU 0.331669 0.372 Uncertain 1_81967772_C->T 1 81967772 81967772 C T snp 71.77 0/1 99 39 31 8 0.21 intergenic rs4083533 LOC101927412 AU 0.494609 0.5565 Uncertain 1_82409587_T->C 1 82409587 82409587 T C snp 46.77 0/1 31 3 1 2 0.67 intronic rs3790893 ADGRL2 AU NM_001297705 exon5 c.106784+134T>C 0.0944489 0.0982 Uncertain 1_82415814_T->C 1 82415814 82415814 T C snp 1775.77 1/1 99 59 0 59 1.0 intronic rs9438715 ADGRL2 AU NM_001297705 exon6 c.113203-58T>C 0.99361 1 Uncertain 1_82416220_G->A 1 82416220 82416220 G A snp 543.77 1/1 42 16 0 16 1.0 intronic rs2148630 ADGRL2 AU NM_001297705 exon6 c.113497+54G>A 0.757987 0.8343 Uncertain 1_82417552_T->G 1 82417552 82417552 T G snp 384.77 0/1 45 14 2 12 0.86 intronic rs7413275 ADGRL2 AU NM_001297705 exon8 c.114971-88T>G 0.66274 0.7361 Uncertain 1_82421596_C->T 1 82421596 82421596 C T snp 7176.77 1/1 99 250 0 250 1.0 exonic rs11163397 ADGRL2 AU synonymous SNV NM_012302 exon9 c.C1818T p.P606P 0.99401 1 0.992004 0.9979 1 0 D 1.0 P -1.025 T Likely benign 1_82433929_A->T 1 82433929 82433929 A T snp 1117.77 0/1 99 86 39 47 0.55 intronic rs41485748 ADGRL2 AU NM_001297705 exon12 c.131214+46A>T 0.0772764 0.0962 0.065057 0.0635 0.1147 Uncertain 1_82436281_G->A 1 82436281 82436281 G A snp 46.77 0/1 33 3 1 2 0.67 intronic rs1327022 ADGRL2 AU NM_001297705 exon14 c.133549+63G>A 0.493211 0.6786 Uncertain 1_82437671_TTTGT->- 1 82437671 82437675 TTTGT - indel 963.73 0/1 99 39 20 19 0.49 intronic rs144957268 ADGRL2 AU NM_001297705 exon15 c.134933+69_134933+73delTTTGT 0.246605 0.1558 0.266928 Uncertain 1_82437682_G->A 1 82437682 82437682 G A snp 326.77 0/1 99 32 19 13 0.41 intronic rs41292976 ADGRL2 AU NM_001297705 exon15 c.134933+80G>A 0.263578 0.1558 Uncertain 1_82450194_C->A 1 82450194 82450194 C A snp 553.77 0/1 99 36 15 21 0.58 intronic rs1154816 ADGRL2 AU NM_001297705 exon18 c.147597-72C>A 0.326278 0.5873 Uncertain 1_82450844_C->G 1 82450844 82450844 C G snp 341.77 0/1 99 50 33 17 0.34 intronic rs1409765 ADGRL2 AU NM_001297705 exon19 c.148273-98C>G 0.326278 0.5873 Uncertain 1_82456930_T->G 1 82456930 82456930 T G snp 958.77 0/1 99 39 10 29 0.74 UTR3 rs7536425 ADGRL2 AU 0.116813 0.1052 Uncertain 1_82459781_C->A 1 82459781 82459781 C A snp 400.77 0/1 99 33 15 18 0.55 intergenic rs61773977 ADGRL2 AU 0.118211 0.1042 Uncertain 1_84394792_G->A 1 84394792 84394792 G A snp 817.77 0/1 99 68 37 31 0.46 intronic rs12094835 TTLL7 AU NM_024686 exon12 c.59174-26G>A 0.0860623 0.0942 0.093938 0.0938 0.0823 Uncertain 1_84640691_T->G 1 84640691 84640691 T G snp 635.77 1/1 45 27 0 27 1.0 intronic rs582201 PRKACB AU NM_001242857 exon3 c.10620-24T>G 0.952875 0.9355 0.9778 0.9346 Uncertain 1_84640834_T->G 1 84640834 84640834 T G snp 57.74 1/1 6 3 0 3 1.0 intronic rs12132002 PRKACB AU NM_001242857 exon3 c.10644+95T>G 0.270966 0.381 Uncertain 1_84791239_T->C 1 84791239 84791239 T C snp 174.9 1/1 15 5 0 5 1.0 intronic rs315555 SAMD13 AU NM_001134664 exon3 c.22402-80T>C 0.878395 0.8562 Uncertain 1_84810345_G->A 1 84810345 84810345 G A snp 48.74 1/1 6 2 0 2 1.0 intronic rs186405 SAMD13 AU NM_001134664 exon4 c.46396-4968G>A 0.774561 0.8502 Uncertain 1_84810396_A->C 1 84810396 84810396 A C snp 903.77 1/1 66 24 0 24 1.0 intronic rs315528 SAMD13 AU NM_001134664 exon4 c.46396-4917A>C 0.77516 0.8522 Uncertain 1_84810815_A->G 1 84810815 84810815 A G snp 7275.77 1/1 99 250 1 249 1.0 intronic rs315527 SAMD13 AU NM_001134664 exon4 c.46396-4498A>G 0.933307 0.8581 0.9839 0.9023 Uncertain 1_84853957_A->T 1 84853957 84853957 A T snp 1899.77 1/1 99 62 0 62 1.0 ncRNA_intronic rs665074 UOX AU 0.984425 1 0.9957 1 Uncertain 1_84854282_C->T 1 84854282 84854282 C T snp 347.78 1/1 27 9 0 9 1.0 ncRNA_intronic rs663708 UOX AU 0.984425 1 Uncertain 1_84876711_-->A 1 84876711 84876711 - A indel 2413.73 0/1 99 125 60 65 0.52 intronic rs3216015 DNASE2B AU NM_021233 exon4 c.12435+29insA 0.544728 0.6062 0.518759 0.5478 0.6047 Uncertain 1_84876731_T->G 1 84876731 84876731 T G snp 1215.77 0/1 99 94 44 50 0.53 intronic rs1506700 DNASE2B AU NM_021233 exon4 c.12435+49T>G 0.544728 0.6062 0.518543 0.5167 0.5707 Uncertain 1_84944989_A->G 1 84944989 84944989 A G snp 1511.77 1/1 99 48 0 48 1.0 exonic rs2292191 RPF1 AU nonsynonymous SNV NM_025065 exon1 c.A25G p.S9G 0.490415 0.7331 0.509078 0.5782 0.7672 0.48 T 0.0 P -1.002 T 0.0 T 0.0 T Pathogenic 1_84946745_C->T 1 84946745 84946745 C T snp 773.77 1/1 57 25 0 25 1.0 intronic rs7413066 RPF1 AU NM_025065 exon2 c.1731+50C>T 0.988419 1 0.985369 0.9962 1 Uncertain 1_84986214_T->- 1 84986214 84986214 T - indel 374.73 1/1 42 14 0 14 1.0 intergenic rs397714457 GNG5 AU 0.992412 0.9911 Uncertain 1_85014463_T->A 1 85014463 85014463 T A snp 239.77 0/1 99 18 8 10 0.56 intergenic GNG5 AU Uncertain 1_85040065_C->A 1 85040065 85040065 C A snp 288.77 0/1 99 21 11 10 0.48 exonic rs772631953 CTBS AU nonsynonymous SNV NM_004388 exon1 c.G34T p.V12F 0 0 0.02 T 1 N -1.034 T 0.028 T 0.011 T Pathogenic 1_85096589_T->G 1 85096589 85096589 T G snp 850.77 0/1 99 76 40 36 0.47 ncRNA_intronic rs12125951 LINC01555 AU 0.147364 0.1954 0.1211 0.2072 Uncertain 1_85331808_-->AGA 1 85331808 85331808 - AGA indel 2098.73 0/1 99 108 45 63 0.58 UTR5 rs113879527 LPAR3 AU 0.742013 0.5327 0.779508 0.7073 0.5042 Uncertain 1_85392324_C->T 1 85392324 85392324 C T snp 1698.77 0/1 99 137 66 71 0.52 UTR3 rs6681025 MCOLN2 AU 0.263179 0.371 0.238813 0.2870 0.3901 Uncertain 1_85418307_C->G 1 85418307 85418307 C G snp 2329.77 1/1 99 71 0 71 1.0 intronic rs677476 MCOLN2 AU NM_153259 exon10 c.25846+94C>G 0.570487 0.6607 Uncertain 1_85422061_C->T 1 85422061 85422061 C T snp 5208.77 1/1 99 186 0 186 1.0 intronic rs632545 MCOLN2 AU NM_153259 exon11 c.29746-52C>T 0.553115 0.6607 Uncertain 1_85462582_C->G 1 85462582 85462582 C G snp 1497.77 1/1 99 51 0 51 1.0 UTR5 rs11161503 MCOLN2 AU 0.452077 0.63 0.420114 0.4714 0.6197 Uncertain 1_85462652_G->T 1 85462652 85462652 G T snp 306.78 1/1 24 11 0 11 1.0 UTR5 rs11161504 MCOLN2 AU 0.451478 0.629 Uncertain 1_85462665_T->G 1 85462665 85462665 T G snp 263.8 1/1 21 8 0 8 1.0 UTR5 rs11161505 MCOLN2 AU 0.451478 0.629 Uncertain 1_85488154_G->C 1 85488154 85488154 G C snp 769.77 1/1 60 24 0 24 1.0 intronic rs2039814 MCOLN3 AU NM_018298 exon4 c.3278+71G>C 0.945487 0.994 Uncertain 1_85537502_T->A 1 85537502 85537502 T A snp 332.78 1/1 27 10 0 10 1.0 intronic rs4907131 WDR63 AU 0.79373 0.7679 Uncertain 1_85537522_T->C 1 85537522 85537522 T C snp 590.77 1/1 45 20 0 20 1.0 intronic rs4907132 WDR63 AU 0.774161 0.7679 Uncertain 1_85559119_T->- 1 85559119 85559119 T - indel 1625.73 0/1 99 102 46 56 0.55 intronic rs11304107 WDR63 AU NM_145172 exon9 c.21516-21delT 0.626597 0.5863 0.646725 0.6287 0.5778 Uncertain 1_85559452_A->G 1 85559452 85559452 A G snp 3119.77 0/1 99 249 115 134 0.54 intronic rs709762 WDR63 AU NM_145172 exon9 c.21707+121A>G 0.571286 0.4435 0.6093 0.5189 Uncertain 1_85560313_T->C 1 85560313 85560313 T C snp 513.77 0/1 99 35 16 19 0.54 intronic rs709765 WDR63 AU NM_145172 exon10 c.22614+75T>C 0.571885 0.4444 Uncertain 1_85561546_T->C 1 85561546 85561546 T C snp 1380.77 0/1 99 81 30 51 0.63 intronic rs709766 WDR63 AU NM_145172 exon11 c.23989-67T>C 0.569888 0.4375 Uncertain 1_85564138_A->G 1 85564138 85564138 A G snp 468.77 0/1 99 55 34 21 0.38 intronic rs817489 WDR63 AU NM_145172 exon13 c.26588-74A>G 0.570487 0.4385 Uncertain 1_85573705_-->C 1 85573705 85573705 - C indel 460.73 0/1 99 26 13 13 0.5 intronic rs11427716 WDR63 AU NM_145172 exon15 c.36091-10insC 0.6497 0.5348 Uncertain 1_85583293_A->G 1 85583293 85583293 A G snp 338.77 0/1 99 16 6 10 0.63 intronic rs6678615 WDR63 AU NM_145172 exon17 c.45787-118A>G 0.147564 0.1667 Uncertain 1_85587576_G->T 1 85587576 85587576 G T snp 1555.77 0/1 99 124 57 67 0.54 intronic rs578152156 WDR63 AU NM_145172 exon18 c.49873+79G>T 0.000399361 0.002 Uncertain 1_85589940_T->- 1 85589940 85589940 T - indel 8271.73 1/1 99 202 0 202 1.0 splicing rs11356964 WDR63 AU NM_145172 exon19 c.52310+6delT 0.665335 0.5794 0.664990 0.7125 0.5573 Pathogenic 1_85592126_G->T 1 85592126 85592126 G T snp 1087.77 1/1 78 36 0 36 1.0 intronic rs817474 WDR63 AU NM_145172 exon20 c.54569-67G>T 0.876797 0.9266 Uncertain 1_85595645_C->T 1 85595645 85595645 C T snp 4067.77 1/1 99 158 0 158 1.0 intronic rs1020770 WDR63 AU NM_145172 exon22 c.58048-27C>T 0.598842 0.5685 0.612025 0.6840 0.5500 Uncertain 1_85598528_C->- 1 85598528 85598528 C - indel 2688.73 1/1 99 84 0 84 1.0 intronic rs36118758 WDR63 AU NM_145172 exon23 c.60913-9delC 0.982428 1 0.9953 1 Uncertain 1_85624549_C->T 1 85624549 85624549 C T snp 3788.77 1/1 99 141 0 141 1.0 exonic rs709786 SYDE2 AU nonsynonymous SNV NM_032184 exon7 c.G3469A p.V1157I 0.999201 1 0.998908 0.9995 1 1 T 0.000 P -0.946 T 0.0 T 0.0 T Pathogenic 1_85624864_G->A 1 85624864 85624864 G A snp 5570.77 1/1 99 207 1 206 1.0 exonic rs817412 SYDE2 AU synonymous SNV NM_032184 exon7 c.C3154T p.L1052L 0.98103 1 0.985351 0.9956 1 Uncertain 1_85647713_T->C 1 85647713 85647713 T C snp 646.77 1/1 48 23 0 23 1.0 intronic rs817444 SYDE2 AU NM_032184 exon5 c.23348-67T>C 0.979433 1 0.9940 1 Uncertain 1_85648620_C->T 1 85648620 85648620 C T snp 3397.77 1/1 99 124 1 123 0.99 exonic rs817443 SYDE2 AU nonsynonymous SNV NM_032184 exon3 c.G1705A p.V569I 0.979433 1 0.984188 0.9953 1 1 T 0.0 P -0.913 T 0.0 T 0.0 T Pathogenic 1_85648905_T->C 1 85648905 85648905 T C snp 1601.77 1/1 99 54 0 54 1.0 intronic rs11161539 SYDE2 AU NM_032184 exon5 c.24451+22T>C 0.514177 0.5397 0.550630 0.6193 0.5407 Uncertain 1_85666156_T->G 1 85666156 85666156 T G snp 7046.77 1/1 99 248 1 247 1.0 exonic rs12121540 SYDE2 AU nonsynonymous SNV NM_032184 exon1 c.A524C p.Q175P 0.304513 0.4683 0.214168 0.2861 0.4789 0.71 T 0.0 P -0.928 T 0.0 T 0.001 T Pathogenic 1_85725032_G->T 1 85725032 85725032 G T snp 1055.77 0/1 99 113 64 49 0.43 intronic rs75231029 C1orf52 AU NM_198077 exon3 c.6729-8G>T 0.0698882 0.1468 0.041673 0.0643 0.1428 Uncertain 1_85725354_CCGGAAA->- 1 85725354 85725360 CCGGAAA - indel 1878.73 1/1 63 35 0 35 1.0 UTR5 rs112918702 C1orf52 AU 0.404553 0.3363 0.367653 0.3250 0.2790 Uncertain 1_85733374_C->T 1 85733374 85733374 C T snp 1493.77 0/1 99 120 57 63 0.53 exonic rs3768235 BCL10 AR,AU nonsynonymous SNV NM_003921 exon3 c.G638A p.G213E 0.0720847 0.1538 0.041904 0.0640 0.1519 0.61 T 0.000 P -0.973 T 0.0 T 0.0 T Pathogenic 1_85741921_G->C 1 85741921 85741921 G C snp 2315.77 1/1 99 86 0 86 1.0 intronic rs2735594 BCL10 AR,AU NM_003921 exon3 c.8669-57G>C 0.770567 0.7173 0.800263 Uncertain 1_85742012_G->C 1 85742012 85742012 G C snp 1208.77 0/1 99 101 47 54 0.53 exonic rs11576939 BCL10 AR,AU synonymous SNV NM_003921 exon1 c.C24G p.L8L 0.228235 0.0744 0.286791 0.2755 0.0773 ID=CM062460;DIS=Advanced germ cell tumors, association with;TAG=DP;PUB=16229939 DP Uncertain 1_85787114_A->T 1 85787114 85787114 A T snp 873.77 1/1 66 29 0 29 1.0 UTR3 rs233116 DDAH1 AU 1 1 1.0000 1 Uncertain 1_85787118_G->C 1 85787118 85787118 G C snp 506.77 0/1 99 34 12 22 0.65 UTR3 rs3087894 DDAH1 AU 0.280551 0.2927 0.266339 0.3389 0.2874 Uncertain 1_85787323_T->A 1 85787323 85787323 T A snp 329.77 0/1 99 61 45 16 0.26 intronic rs1498375 DDAH1 AU NM_001134445 exon1 c.117+72T>A 0.279153 0.2927 Uncertain 1_85790633_G->A 1 85790633 85790633 G A snp 667.77 0/1 99 40 18 22 0.55 intronic rs1498373 DDAH1 AU NM_001134445 exon2 c.3432+67G>A 0.279553 0.2937 Uncertain 1_85930272_-->AC 1 85930272 85930272 - AC indel 964.73 ./1 99 37 0 37 1.0 intronic rs754526731 DDAH1 AU NM_012137 exon6 c.143291-153insAC Uncertain 1_85930273_AC->- 1 85930273 85930274 AC - indel 964.73 ./1 99 37 0 37 1.0 intronic rs397820642 DDAH1 AU NM_012137 exon6 c.143291-152_143291-151delAC 0.758387 0.7877 Uncertain 1_86046561_C->A 1 86046561 86046561 C A snp 583.77 1/1 45 16 0 16 1.0 UTR5 rs2297140 CYR61 AU 0.585663 0.5784 Uncertain 1_86046924_G->A 1 86046924 86046924 G A snp 773.77 0/1 99 53 27 26 0.49 intronic rs2297141 CYR61 AU NM_001554 exon2 c.380-123G>A 0.467452 0.4157 Uncertain 1_86119898_A->G 1 86119898 86119898 A G snp 274.77 0/1 99 20 9 11 0.55 intronic rs2274738 ZNHIT6 AU NM_001170670 exon1 c.41+117A>G 0.193291 0.248 Uncertain 1_86167957_C->T 1 86167957 86167957 C T snp 763.77 1/1 57 27 0 27 1.0 intronic rs1764298 ZNHIT6 AU NM_001170670 exon6 c.48203+14C>T 0.706669 0.9157 0.700908 0.7986 0.9365 Uncertain 1_86173298_C->T 1 86173298 86173298 C T snp 4854.77 1/1 99 165 1 164 0.99 intronic rs1539444 ZNHIT6 AU NM_001170670 exon10 c.53571-13C>T 0.444289 0.5119 0.457481 0.4768 0.4893 Uncertain 1_86202016_C->T 1 86202016 86202016 C T snp 4803.77 1/1 99 163 0 163 1.0 intronic rs1481200 COL24A1 AU NM_152890 exon3 c.6850-1062C>T 0.885383 0.9444 0.9609 0.9296 Uncertain 1_86210241_-->T 1 86210241 86210241 - T indel 1531.73 1/1 99 42 0 42 1.0 intronic rs11387251 COL24A1 AU NM_152890 exon4 c.14120-107insT 0.845048 0.9296 Uncertain 1_86210546_G->A 1 86210546 86210546 G A snp 1430.77 1/1 99 48 0 48 1.0 intronic rs7547023 COL24A1 AU NM_152890 exon4 c.14289+29G>A 0.846845 0.9306 0.897375 0.9167 0.9396 Uncertain 1_86211325_G->A 1 86211325 86211325 G A snp 911.77 1/1 66 27 0 27 1.0 intronic rs10747324 COL24A1 AU NM_152890 exon5 c.14961+136G>A 0.847244 0.9306 Uncertain 1_86246849_A->C 1 86246849 86246849 A C snp 606.77 0/1 99 45 17 28 0.62 intronic rs313722 COL24A1 AU NM_152890 exon9 c.50674-53A>C 0.723043 0.7788 0.763919 Uncertain 1_86249063_C->T 1 86249063 86249063 C T snp 1978.77 1/1 99 66 0 66 1.0 intronic rs313724 COL24A1 AU NM_152890 exon10 c.52950-115C>T 0.897364 0.9444 Uncertain 1_86249735_A->C 1 86249735 86249735 A C snp 414.77 0/1 99 40 25 15 0.38 intronic rs41371348 COL24A1 AU NM_152890 exon11 c.53567-60A>C 0.133586 0.1607 0.145989 Uncertain 1_86249911_A->G 1 86249911 86249911 A G snp 5575.77 1/1 99 207 0 207 1.0 intronic rs313725 COL24A1 AU NM_152890 exon12 c.53713-30A>G 0.85643 0.9444 0.879715 0.9317 0.9508 Uncertain 1_86334070_T->A 1 86334070 86334070 T A snp 310.77 0/1 99 36 24 12 0.33 intronic rs313775 COL24A1 AU NM_152890 exon24 c.137973-131T>A 0.467652 0.5942 Uncertain 1_86334316_T->C 1 86334316 86334316 T C snp 541.77 0/1 99 42 18 24 0.57 intronic rs17411495 COL24A1 AU NM_152890 exon24 c.138081+7T>C 0.465855 0.5942 0.396932 0.4591 0.5816 Uncertain 1_86340523_T->C 1 86340523 86340523 T C snp 86.77 0/1 30 4 1 3 0.75 intronic rs1564518 COL24A1 AU NM_152890 exon26 c.144157+138T>C 0.694089 0.625 Uncertain 1_86340524_G->A 1 86340524 86340524 G A snp 86.77 0/1 30 4 1 3 0.75 intronic rs1564517 COL24A1 AU NM_152890 exon26 c.144157+139G>A 0.294529 0.0853 Uncertain 1_86340794_T->C 1 86340794 86340794 T C snp 254.77 0/1 99 23 11 12 0.52 intronic rs1564516 COL24A1 AU NM_152890 exon27 c.144731-165T>C 0.71905 0.626 Uncertain 1_86340892_A->G 1 86340892 86340892 A G snp 882.77 0/1 99 93 54 39 0.42 intronic rs7536101 COL24A1 AU NM_152890 exon27 c.144731-67A>G 0.435304 0.5893 0.378230 Uncertain 1_86355212_C->A 1 86355212 86355212 C A snp 670.77 0/1 99 54 27 27 0.5 intronic rs76666601 COL24A1 AU NM_152890 exon29 c.159014-30C>A 0.0974441 0.1766 0.033491 0.0633 0.1775 Uncertain 1_86361802_C->G 1 86361802 86361802 C G snp 1051.77 1/1 75 42 0 42 1.0 intronic rs7541806 COL24A1 AU NM_152890 exon31 c.165520+54C>G 0.695288 0.8036 0.666813 Uncertain 1_86372839_-->G 1 86372839 86372839 - G indel 2607.73 1/1 99 88 2 86 0.98 intronic rs576391147 COL24A1 AU NM_152890 exon33 c.176648-37insG 0.3725 0.5346 Uncertain 1_86375654_C->G 1 86375654 86375654 C G snp 5388.77 1/1 99 220 0 220 1.0 exonic rs1502657 COL24A1 AU synonymous SNV NM_152890 exon26 c.G2649C p.P883P 0.691893 0.8026 0.674423 0.7044 0.7997 Uncertain 1_86377028_C->T 1 86377028 86377028 C T snp 1606.77 1/1 99 60 0 60 1.0 intronic rs10493777 COL24A1 AU NM_152890 exon36 c.180834-34C>T 0.34345 0.5347 0.280356 0.3661 0.5348 Uncertain 1_86435850_T->C 1 86435850 86435850 T C snp 229.77 0/1 99 27 14 13 0.48 intronic rs7538391 COL24A1 AU NM_152890 exon39 c.239681-59T>C 0.311701 0.4097 0.188708 Uncertain 1_86453237_T->G 1 86453237 86453237 T G snp 680.77 0/1 99 53 23 30 0.57 intronic rs11799965 COL24A1 AU NM_152890 exon41 c.257055-46T>G 0.219649 0.2212 0.262355 0.2541 0.2338 Uncertain 1_86482958_T->A 1 86482958 86482958 T A snp 465.77 0/1 99 29 12 17 0.59 intronic rs17128726 COL24A1 AU NM_152890 exon42 c.286659+71T>A 0.185104 0.4405 0.062445 Uncertain 1_86487914_C->A 1 86487914 86487914 C A snp 1317.77 0/1 99 156 98 58 0.37 intronic rs11161721 COL24A1 AU NM_152890 exon43 c.291694-8C>A 0.259585 0.2688 0.266429 0.2655 0.2582 Uncertain 1_86487981_G->A 1 86487981 86487981 G A snp 2783.77 1/1 99 98 0 98 1.0 splicing rs516213 COL24A1 AU NM_152890 exon43 c.291748+5G>A 0.78774 0.872 0.699729 0.6671 0.8333 Pathogenic 1_86487992_-->ACAG 1 86487992 86487992 - ACAG indel 4967.73 1/1 99 92 0 92 1.0 intronic rs35501628 COL24A1 AU NM_152890 exon43 c.291748+16insACAG 0.780351 0.8552 0.699398 0.6638 0.8294 Uncertain 1_86497769_C->G 1 86497769 86497769 C G snp 258.8 1/1 21 7 0 7 1.0 intronic rs582141 COL24A1 AU NM_152890 exon47 c.301377+164C>G 0.777955 0.876 Uncertain 1_86512536_C->T 1 86512536 86512536 C T snp 639.77 0/1 99 72 40 32 0.44 exonic rs60891279 COL24A1 AU nonsynonymous SNV NM_152890 exon12 c.G1922A p.R641H 0.183906 0.2788 0.136743 0.1703 0.2870 0.15 T 0.186 P -0.003 T 0.025 T 0.009 T Pathogenic 1_86557967_G->A 1 86557967 86557967 G A snp 264.77 0/1 99 28 15 13 0.46 exonic rs11161732 COL24A1 AU nonsynonymous SNV NM_152890 exon6 c.C1636T p.P546S 0.370208 0.3849 0.373760 0.3614 0.3950 0.11 T 0.000 P -0.568 T 0.005 T 0.01 T Pathogenic 1_86578449_A->C 1 86578449 86578449 A C snp 47.77 0/1 76 15 12 3 0.2 intronic rs2039602 COL24A1 AU NM_152890 exon56 c.382075+146A>C 0.16234 0.0605 Uncertain 1_86590915_G->A 1 86590915 86590915 G A snp 6195.77 1/1 99 208 0 208 1.0 exonic rs2174767 COL24A1 AU synonymous SNV NM_152890 exon3 c.C1104T p.S368S 0.964457 0.9722 0.974085 0.9892 0.9693 Uncertain 1_86590948_A->G 1 86590948 86590948 A G snp 2769.77 0/1 99 250 131 119 0.48 exonic rs11161746 COL24A1 AU synonymous SNV NM_152890 exon3 c.T1071C p.S357S 0.138179 0.0605 0.129040 0.1631 0.0646 Uncertain 1_86591141_A->G 1 86591141 86591141 A G snp 2803.77 0/1 99 225 121 104 0.46 exonic rs17128866 COL24A1 AU nonsynonymous SNV NM_152890 exon3 c.T878C p.I293T 0.0640974 0.1538 0.061489 0.0679 0.1405 0.45 T 0.0 P -0.443 T 0.103 T 0.037 T Pathogenic 1_86611702_T->C 1 86611702 86611702 T C snp 416.77 0/1 99 31 15 16 0.52 intronic rs2892908 COL24A1 AU NM_152890 exon59 c.415573-99T>C 0.102436 0.2272 Uncertain 1_86621992_C->A 1 86621992 86621992 C A snp 579.77 0/1 99 39 17 22 0.56 intronic rs1999747 COL24A1 AU NM_152890 exon60 c.425795-31C>A 0.550319 0.5506 0.642451 0.6450 0.5831 Uncertain 1_86621998_C->T 1 86621998 86621998 C T snp 548.77 0/1 99 43 19 24 0.56 intronic rs41287729 COL24A1 AU NM_152890 exon60 c.425795-25C>T 0.0712859 0.1597 0.058789 0.0770 0.1527 Uncertain 1_86890931_T->A 1 86890931 86890931 T A snp 397.77 1/1 30 14 0 14 1.0 intronic rs1158505 CLCA2 AU NM_006536 exon2 c.1091-90T>A 0.617612 0.7014 Uncertain 1_86891005_C->A 1 86891005 86891005 C A snp 1056.77 1/1 75 40 0 40 1.0 intronic rs1158506 CLCA2 AU NM_006536 exon2 c.1091-16C>A 0.555911 0.5893 0.582715 0.6018 0.5719 Uncertain 1_86894371_G->T 1 86894371 86894371 G T snp 430.77 1/1 33 12 0 12 1.0 intronic rs1334147 CLCA2 AU NM_006536 exon3 c.4321+120G>T 0.618411 0.7014 Uncertain 1_86896354_G->A 1 86896354 86896354 G A snp 866.77 1/1 66 25 0 25 1.0 intronic rs4292929 CLCA2 AU NM_006536 exon4 c.6614-190G>A 0.823083 0.7361 Uncertain 1_86896706_C->A 1 86896706 86896706 C A snp 1387.77 1/1 99 38 0 38 1.0 intronic rs3737673 CLCA2 AU NM_006536 exon4 c.6723+53C>A 0.235423 0.1796 Uncertain 1_86897970_T->A 1 86897970 86897970 T A snp 405.77 1/1 33 11 0 11 1.0 intronic rs12407985 CLCA2 AU NM_006536 exon5 c.8121-81T>A 0.235623 0.1796 Uncertain 1_86897973_T->C 1 86897973 86897973 T C snp 349.78 1/1 27 11 0 11 1.0 intronic rs1334150 CLCA2 AU NM_006536 exon5 c.8121-78T>C 0.811901 0.7351 Uncertain 1_86900332_T->C 1 86900332 86900332 T C snp 5278.77 1/1 99 200 0 200 1.0 exonic rs17449526 CLCA2 AU synonymous SNV NM_006536 exon6 c.T876C p.N292N 0.234824 0.1796 0.282716 0.2978 0.1784 Uncertain 1_86900372_C->G 1 86900372 86900372 C G snp 5006.77 1/1 99 179 0 179 1.0 exonic rs17409304 CLCA2 AU nonsynonymous SNV NM_006536 exon6 c.C916G p.Q306E 0.234824 0.1796 0.282639 0.2977 0.1782 0.06 T 0.993 P -1.097 T 0.976 D 0.523 D ID=CM063904;DIS=Leukemia, risk, association with;TAG=DP;PUB=16574953 DP Pathogenic 1_86900491_C->T 1 86900491 86900491 C T snp 1510.77 1/1 99 52 0 52 1.0 intronic rs56408800 CLCA2 AU NM_006536 exon6 c.10498+63C>T 0.235024 0.1776 Uncertain 1_86904588_C->T 1 86904588 86904588 C T snp 1322.77 0/1 99 113 62 51 0.45 exonic rs11161830 CLCA2 AU synonymous SNV NM_006536 exon7 c.C1002T p.A334A 0.109026 0.0546 0.112256 0.0892 0.0481 Uncertain 1_86904850_C->T 1 86904850 86904850 C T snp 1248.77 0/1 99 123 69 54 0.44 intronic rs10493791 CLCA2 AU NM_006536 exon7 c.14859+61C>T 0.108626 0.0546 Uncertain 1_86905759_G->C 1 86905759 86905759 G C snp 714.77 0/1 99 34 12 22 0.65 intronic rs11161835 CLCA2 AU NM_006536 exon8 c.15900-71G>C 0.0690895 0.0546 Uncertain 1_86906114_T->C 1 86906114 86906114 T C snp 199.84 1/1 18 6 0 6 1.0 intronic rs1981082 CLCA2 AU NM_006536 exon8 c.16078+106T>C 0.521565 0.3343 Uncertain 1_86909493_C->T 1 86909493 86909493 C T snp 2090.77 0/1 99 175 87 88 0.5 exonic rs2390059 CLCA2 AU synonymous SNV NM_006536 exon10 c.C1512T p.V504V 0.112021 0.0585 0.113332 0.0907 0.0484 Uncertain 1_86909582_G->A 1 86909582 86909582 G A snp 2259.77 0/1 99 212 102 110 0.52 exonic rs1413426 CLCA2 AU nonsynonymous SNV NM_006536 exon10 c.G1601A p.G534D 0.102436 0.0585 0.099493 0.0870 0.0481 0.58 T 0.0 P -1.006 T 0.001 T 0.007 T Pathogenic 1_86913074_A->G 1 86913074 86913074 A G snp 300.77 0/1 99 25 14 11 0.44 intronic rs12752909 CLCA2 AU NM_006536 exon11 c.23260-116A>G 0.106629 0.0585 Uncertain 1_86919011_G->A 1 86919011 86919011 G A snp 263.77 0/1 99 25 13 12 0.48 intronic rs3820041 CLCA2 AU NM_006536 exon13 c.29121-40G>A 0.0621006 0.1131 0.042308 0.0617 0.1044 Uncertain 1_86920904_A->G 1 86920904 86920904 A G snp 2763.77 0/1 99 249 135 114 0.46 exonic rs2390057 CLCA2 AU synonymous SNV NM_006536 exon14 c.A2526G p.Q842Q 0.328874 0.4405 0.304552 0.3432 0.4193 Uncertain 1_86939130_C->T 1 86939130 86939130 C T snp 2291.77 1/1 99 93 0 93 1.0 exonic rs2145412 CLCA1 AU nonsynonymous SNV NM_001285 exon2 c.C193T p.L65F 0.882188 0.9871 0.884438 0.9404 0.9873 1 T 0.000 P -0.922 T 0.0 T 0.0 T Pathogenic 1_86939390_G->A 1 86939390 86939390 G A snp 2315.77 1/1 99 82 0 82 1.0 intronic rs2180762 CLCA1 AU NM_001285 exon3 c.4757-21G>A 0.915136 0.9871 0.914270 0.9507 0.9874 Uncertain 1_86947975_A->T 1 86947975 86947975 A T snp 2902.77 0/1 99 238 119 119 0.5 exonic rs1321694 CLCA1 AU synonymous SNV NM_001285 exon5 c.A645T p.V215V 0.367612 0.505 0.319852 0.3709 0.4740 Uncertain 1_86948169_T->C 1 86948169 86948169 T C snp 1365.77 0/1 99 72 27 45 0.63 intronic rs2791514 CLCA1 AU NM_001285 exon5 c.13411+104T>C 0.120807 0.0804 Uncertain 1_86952324_A->G 1 86952324 86952324 A G snp 3123.77 1/1 99 114 0 114 1.0 exonic rs2734705 CLCA1 AU nonsynonymous SNV NM_001285 exon7 c.A1070G p.N357S 0.886981 0.8472 0.869137 0.8629 0.8719 1 T 0.000 P -0.912 T 0.0 T 0.001 T ID=CM109978;DIS=Cystic fibrosis, modifier of;TAG=DP;PUB=20179644 DP Pathogenic 1_86952601_A->G 1 86952601 86952601 A G snp 99.28 1/1 9 3 0 3 1.0 intronic rs2075630 CLCA1 AU NM_001285 exon7 c.17782+165A>G 0.627196 0.7649 Uncertain 1_86956785_C->G 1 86956785 86956785 C G snp 309.78 1/1 24 9 0 9 1.0 intronic rs2753342 CLCA1 AU NM_001285 exon9 c.22293-162C>G 0.876198 0.9107 Uncertain 1_86959014_T->C 1 86959014 86959014 T C snp 174.9 1/1 15 5 0 5 1.0 intronic rs2753346 CLCA1 AU NM_001285 exon10 c.24412-52T>C 0.854034 0.9107 Uncertain 1_86959173_T->C 1 86959173 86959173 T C snp 3482.77 1/1 99 126 0 126 1.0 exonic rs2791494 CLCA1 AU nonsynonymous SNV NM_001285 exon10 c.T1571C p.M524T 0.849641 0.9058 0.801707 0.8419 0.9213 0.76 T 0.0 P -0.952 T 0.0 T 0.0 T Pathogenic 1_86959424_C->A 1 86959424 86959424 C A snp 99.28 1/1 9 3 0 3 1.0 intronic rs1321690 CLCA1 AU NM_001285 exon10 c.24628+142C>A 0.736621 0.7014 Uncertain 1_86959796_C->T 1 86959796 86959796 C T snp 2753.77 1/1 99 95 0 95 1.0 intronic rs1321689 CLCA1 AU NM_001285 exon11 c.25215-73C>T 0.721246 0.6954 Uncertain 1_86965419_T->C 1 86965419 86965419 T C snp 3177.77 1/1 99 113 2 111 0.98 exonic rs1882753 CLCA1 AU synonymous SNV NM_001285 exon14 c.T2436C p.T812T 0.352636 0.5446 0.262304 0.2985 0.5561 Uncertain 1_87036746_C->A 1 87036746 87036746 C A snp 3309.77 1/1 99 123 0 123 1.0 intronic rs772599 CLCA4 AU NM_012128 exon8 c.23957-13C>A 0.864617 0.9395 0.778931 0.8011 0.9406 Uncertain 1_87045897_CCTACA->- 1 87045897 87045902 CCTACA - indel 19984.7 1/1 99 244 0 244 1.0 exonic rs4001061 CLCA4 AU nonframeshift deletion NM_012128 exon14 c.2629_2634del p.877_878del 0.707069 0.7282 0.7279 0.7248 ID=COSM1317507;OCCURENCE=1(liver),1(haematopoietic_and_lymphoid_tissue) Uncertain 1_87101245_A->G 1 87101245 87101245 A G snp 380.77 0/1 99 44 29 15 0.34 ncRNA_intronic rs2292831 CLCA3P AU 0.477835 0.4077 0.517462 0.4331 0.4027 Uncertain 1_87101375_C->G 1 87101375 87101375 C G snp 1167.77 0/1 99 106 53 53 0.5 ncRNA_exonic rs2292830 CLCA3P AU 0.477636 0.4077 0.515618 0.4261 0.4020 Uncertain 1_87101649_T->C 1 87101649 87101649 T C snp 438.77 0/1 99 35 18 17 0.49 ncRNA_exonic rs2292829 CLCA3P AU 0.155152 0.3651 0.101799 0.1381 0.3657 Uncertain 1_87200729_C->G 1 87200729 87200729 C G snp 3275.77 0/1 99 250 121 129 0.52 intronic rs263483 SH3GLB1 AU NM_001206653 exon6 c.15486-32C>G 0.569489 0.7242 0.478779 0.4316 0.7349 Uncertain 1_87458695_G->A 1 87458695 87458695 G A snp 1503.77 1/1 99 52 0 52 1.0 intronic rs10873810 HS2ST1 AU NM_001134492 exon1 c.124+77852G>A 0.761581 0.9633 Uncertain 1_87538063_T->C 1 87538063 87538063 T C snp 110.77 0/1 99 9 5 4 0.44 intronic rs79305922 HS2ST1 AU NM_001134492 exon2 c.157897-553T>C 0.0295527 0.12 Uncertain 1_87538183_TG->- 1 87538183 87538184 TG - indel 3052.73 1/1 99 66 0 66 1.0 intronic rs34124612 HS2ST1 AU NM_001134492 exon2 c.157897-433_157897-432delTG 0.71905 0.9643 Uncertain 1_87538200_G->A 1 87538200 87538200 G A snp 1858.77 1/1 99 72 0 72 1.0 intronic rs10782592 HS2ST1 AU NM_001134492 exon2 c.157897-416G>A 0.748403 0.9653 Uncertain 1_87538962_G->A 1 87538962 87538962 G A snp 349.78 1/1 27 9 0 9 1.0 intronic rs1539610 HS2ST1 AU NM_001134492 exon2 c.158136+107G>A 0.851837 0.9653 Uncertain 1_87549858_A->G 1 87549858 87549858 A G snp 1072.77 1/1 78 37 0 37 1.0 intronic rs2798675 HS2ST1 AU NM_001134492 exon3 c.169157-18A>G 0.937101 0.994 0.912335 0.9399 0.9958 Uncertain 1_87563668_G->A 1 87563668 87563668 G A snp 747.77 1/1 54 25 0 25 1.0 UTR3 rs1199677 HS2ST1 AU 0.966853 0.995 0.955943 0.9660 0.9961 Uncertain 1_87570398_G->A 1 87570398 87570398 G A snp 4834.77 1/1 99 167 0 167 1.0 UTR3 rs1621247 HS2ST1 AU 0.707867 0.9653 0.655196 0.7839 0.9732 Uncertain 1_87598117_T->G 1 87598117 87598117 T G snp 2709.77 1/1 99 87 0 87 1.0 ncRNA_intronic rs6686259 LINC01140 AU 0.740815 0.8433 0.7051 0.7792 Uncertain 1_87599697_G->A 1 87599697 87599697 G A snp 4786.77 1/1 99 172 0 172 1.0 ncRNA_exonic rs6576865 LINC01140 AU 0.841054 0.8373 0.7674 0.7879 Uncertain 1_87633761_C->T 1 87633761 87633761 C T snp 1028.77 1/1 75 33 0 33 1.0 ncRNA_intronic rs10782593 LINC01140 AU 0.935104 1 Uncertain 1_87798013_G->T 1 87798013 87798013 G T snp 1494.77 0/1 99 89 39 50 0.56 intronic rs3753291 LMO4 AU NM_006769 exon2 c.236+79G>T 0.114816 0.1607 Uncertain 1_89322982_G->A 1 89322982 89322982 G A snp 5225.77 1/1 99 192 0 192 1.0 exonic rs2794318 GTF2B AU synonymous SNV NM_001514 exon6 c.C724T p.L242L 0.986022 1 0.982470 0.9954 0.9999 Uncertain 1_89426902_G->A 1 89426902 89426902 G A snp 5599.77 1/1 99 207 0 207 1.0 exonic rs3738055 CCBL2 AU synonymous SNV NM_001008662 exon7 c.C633T p.S211S 0.369409 0.4633 0.421113 0.4373 0.4491 Uncertain 1_89427252_G->A 1 89427252 89427252 G A snp 101.28 1/1 9 4 0 4 1.0 intronic rs10922530 CCBL2 AU NM_001008661 exon8 c.25324+63G>A 0.275759 0.3403 Uncertain 1_89427571_G->C 1 89427571 89427571 G C snp 54.74 1/1 6 2 0 2 1.0 intronic rs3753683 CCBL2 AU NM_001008661 exon9 c.25876-170G>C 0.370008 0.4633 Uncertain 1_89430420_A->G 1 89430420 89430420 A G snp 954.77 1/1 69 35 0 35 1.0 intronic rs1536259 CCBL2 AU NM_001008661 exon10 c.28646-91A>G 0.369409 0.4633 0.5463 0.5903 Uncertain 1_89434176_C->T 1 89434176 89434176 C T snp 137.77 0/1 99 16 10 6 0.38 intronic rs181870685 CCBL2 AU NM_001008661 exon11 c.32487-176C>T 0.00239617 0.0109 Uncertain 1_89473736_C->T 1 89473736 89473736 C T snp 46.77 0/1 33 3 1 2 0.67 intronic rs7550155 GBP3 AU NM_018284 exon1 c.129+201C>T 0.28774 0.3849 Uncertain 1_89473740_G->A 1 89473740 89473740 G A snp 46.77 0/1 31 3 1 2 0.67 intronic rs7527086 GBP3 AU NM_018284 exon1 c.129+205G>A 0.28774 0.3849 Uncertain 1_89474818_A->G 1 89474818 89474818 A G snp 798.77 0/1 99 59 26 33 0.56 exonic rs17433780 GBP3 AU nonsynonymous SNV NM_018284 exon10 c.T1471C p.C491R 0.260184 0.2113 0.295787 0.2829 0.1990 1 T 0.0 P -1.046 T 0.0 T 0.0 T Pathogenic 1_89475135_C->T 1 89475135 89475135 C T snp 1735.77 0/1 99 149 68 81 0.54 exonic rs10493821 GBP3 AU nonsynonymous SNV NM_018284 exon9 c.G1405A p.V469M 0.198682 0.2034 0.237275 0.2641 0.1892 0.23 T 0.0 P -0.918 T 0.114 T 0.124 T Pathogenic 1_89475230_T->G 1 89475230 89475230 T G snp 2775.77 1/1 99 91 0 91 1.0 intronic rs4142706 GBP3 AU NM_018284 exon3 c.1771+53T>G 0.535743 0.5962 Uncertain 1_89476441_CTCC->- 1 89476441 89476444 CTCC - indel 498.75 1/1 24 8 0 8 1.0 intronic rs112348491 GBP3 AU NM_018284 exon4 c.3180-145_3180-142delCTCC 0.396366 0.4692 Uncertain 1_89477830_T->C 1 89477830 89477830 T C snp 737.77 1/1 54 23 0 23 1.0 intronic rs6659829 GBP3 AU NM_018284 exon5 c.4304+120T>C 0.463059 0.4702 Uncertain 1_89478854_C->G 1 89478854 89478854 C G snp 356.77 0/1 48 14 2 12 0.86 intronic rs4656076 GBP3 AU NM_018284 exon6 c.5461-13C>G 0.547324 0.5268 0.635399 0.6895 0.5457 Uncertain 1_89479758_T->C 1 89479758 89479758 T C snp 2681.77 0/1 99 224 114 110 0.49 intronic rs3795543 GBP3 AU NM_018284 exon7 c.6359-7T>C 0.643371 0.5188 0.736506 0.7133 0.5301 0.0 P Uncertain 1_89486037_C->T 1 89486037 89486037 C T snp 1016.77 0/1 99 69 30 39 0.57 intronic rs7555039 GBP3 AU NM_018284 exon10 c.12808-177C>T 0.642173 0.5188 Uncertain 1_89520330_AAAAAC->- 1 89520330 89520335 AAAAAC - indel 2692.73 0/1 99 70 36 34 0.49 intronic rs66614512 GBP1 AU NM_002053 exon2 c.1327-34_1327-29delAAAAAC 0.384984 0.381 0.433717 0.4653 0.3797 Uncertain 1_89520574_C->A 1 89520574 89520574 C A snp 1766.77 0/1 99 132 59 73 0.55 intronic rs10922554 GBP1 AU NM_002053 exon2 c.1521+16C>A 0.71885 0.5585 0.797094 0.7497 0.5666 Uncertain 1_89520636_G->A 1 89520636 89520636 G A snp 794.77 0/1 99 44 19 25 0.57 intronic rs10922555 GBP1 AU NM_002053 exon2 c.1521+78G>A 0.717053 0.5585 Uncertain 1_89520643_C->T 1 89520643 89520643 C T snp 611.77 0/1 99 39 15 24 0.62 intronic rs10922556 GBP1 AU NM_002053 exon2 c.1521+85C>T 0.717053 0.5585 Uncertain 1_89522512_C->T 1 89522512 89522512 C T snp 2505.77 0/1 99 189 80 109 0.58 intronic rs4376712 GBP1 AU NM_002053 exon5 c.3499-24C>T 0.35643 0.3581 0.415334 0.4461 0.3690 Uncertain 1_89522646_G->C 1 89522646 89522646 G C snp 2126.77 0/1 99 171 88 83 0.49 exonic rs1048425 GBP1 AU nonsynonymous SNV NM_002053 exon7 c.C1046G p.T349S 0.718251 0.5595 0.794018 0.7451 0.5705 0.06 T 0.000 P -1.185 T 0.254 T 0.438 T Pathogenic 1_89524068_T->C 1 89524068 89524068 T C snp 54.74 1/1 6 2 0 2 1.0 intronic rs1328225 GBP1 AU NM_002053 exon6 c.4880+151T>C 0.36242 0.3581 Uncertain 1_89574026_G->A 1 89574026 89574026 G A snp 830.77 0/1 99 66 32 34 0.52 intronic rs1329119 GBP2 AU NM_004120 exon1 c.117+52G>A 0.738419 0.7847 0.743262 0.7228 0.7899 Uncertain 1_89579941_T->C 1 89579941 89579941 T C snp 2476.77 0/1 99 213 97 116 0.54 exonic rs2230338 GBP2 AU nonsynonymous SNV NM_004120 exon7 c.A907G p.S303G 0.626997 0.7758 0.614178 0.6702 0.7763 0.01 T 0.000 P -0.909 T 0.007 T 0.018 T Pathogenic 1_89582690_G->C 1 89582690 89582690 G C snp 1041.77 0/1 99 115 72 43 0.37 exonic rs1803632 GBP2 AU nonsynonymous SNV NM_004120 exon6 c.C853G p.P285A 0.626997 0.7758 0.614255 0.6702 0.7780 0.48 T 0.0 P -1.073 T 0.004 T 0.004 T Pathogenic 1_89583544_T->C 1 89583544 89583544 T C snp 188.77 0/1 99 12 6 6 0.5 intronic rs2209956 GBP2 AU NM_004120 exon7 c.9599+88T>C 0.626797 0.7758 Uncertain 1_89597755_T->C 1 89597755 89597755 T C snp 83.77 0/1 28 4 1 3 0.75 UTR3 rs942442 GBP7 AU 0.628794 0.7728 Uncertain 1_89598214_G->T 1 89598214 89598214 G T snp 182.9 1/1 15 5 0 5 1.0 intronic rs942441 GBP7 AU NM_207398 exon1 c.255+128G>T 0.999601 1 Uncertain 1_89607479_G->T 1 89607479 89607479 G T snp 646.77 0/1 99 45 20 25 0.56 intronic rs6666846 GBP7 AU NM_207398 exon3 c.9500+148G>T 0.628794 0.7728 Uncertain 1_89607486_T->C 1 89607486 89607486 T C snp 596.77 0/1 99 41 20 21 0.51 intronic rs6658235 GBP7 AU NM_207398 exon3 c.9500+155T>C 0.741214 0.7847 Uncertain 1_89615979_C->T 1 89615979 89615979 C T snp 629.77 0/1 99 36 14 22 0.61 intronic rs586609 GBP7 AU NM_207398 exon6 c.18181-33C>T 0.701877 0.7748 0.688528 0.6923 0.7780 Uncertain 1_89618473_A->- 1 89618473 89618473 A - indel 255.73 0/1 50 31 9 22 0.71 intronic rs10710842 GBP7 AU NM_207398 exon8 c.20629+13delA 0.640176 0.6677 0.3594 0.3326 Uncertain 1_89637578_G->A 1 89637578 89637578 G A snp 2852.77 0/1 99 246 125 121 0.49 exonic rs676913 GBP7 AU nonsynonymous SNV NM_207398 exon2 c.C41T p.T14I 0.714657 0.7718 0.706443 0.6970 0.7788 1 T 0.0 P -0.959 T 0.0 T 0.0 T Pathogenic 1_89650850_A->T 1 89650850 89650850 A T snp 267.77 0/1 99 13 4 9 0.69 UTR3 rs623134 GBP4 AU 0.394369 0.3998 Uncertain 1_89652071_T->C 1 89652071 89652071 T C snp 872.77 0/1 99 84 48 36 0.43 exonic rs561042 GBP4 AU nonsynonymous SNV NM_052941 exon10 c.A1652G p.E551G 0.357428 0.3978 0.016915 0.4319 0.3717 0.07 T 0.0 P -0.931 T 0.095 T 0.158 T Pathogenic 1_89652072_C->T 1 89652072 89652072 C T snp 858.77 0/1 99 83 47 36 0.43 exonic rs561037 GBP4 AU nonsynonymous SNV NM_052941 exon10 c.G1651A p.E551K 0.358826 0.3978 0.010687 0.4319 0.3722 0.37 T 1 N -0.912 T 0.001 T 0.006 T Pathogenic 1_89652078_A->T 1 89652078 89652078 A T snp 898.77 0/1 99 81 44 37 0.46 exonic rs608339 GBP4 AU nonsynonymous SNV NM_052941 exon10 c.T1645A p.L549M 0.359425 0.3988 0.378538 0.4316 0.3714 1 T 0.000 P -1.009 T 0.011 T 0.062 T Pathogenic 1_89652087_C->T 1 89652087 89652087 C T snp 795.77 0/1 99 74 43 31 0.42 exonic rs1142890 GBP4 AU nonsynonymous SNV NM_052941 exon10 c.G1636A p.E546K 0.359026 0.3988 0.105308 0.4312 0.3715 0.84 T 0.0 P -0.990 T 0.001 T 0.009 T Pathogenic 1_89652088_C->G 1 89652088 89652088 C G snp 793.77 0/1 99 74 43 31 0.42 exonic rs1142889 GBP4 AU nonsynonymous SNV NM_052941 exon10 c.G1635C p.M545I 0.359026 0.3988 0.105164 0.4312 0.3714 0.09 T 0.0 P -0.919 T 0.004 T 0.012 T Pathogenic 1_89652090_T->G 1 89652090 89652090 T G snp 799.77 0/1 99 74 43 31 0.42 exonic rs1142888 GBP4 AU nonsynonymous SNV NM_052941 exon10 c.A1633C p.M545L 0.359026 0.3988 0.119415 0.4314 0.3717 1 T 0.0 P -1.000 T 0.0 T 0.0 T Pathogenic 1_89652094_G->A 1 89652094 89652094 G A snp 796.77 0/1 99 76 46 30 0.39 exonic rs1142887 GBP4 AU synonymous SNV NM_052941 exon10 c.C1629T p.A543A 0.359026 0.3988 0.228236 0.4310 0.3715 Uncertain 1_89652097_C->T 1 89652097 89652097 C T snp 799.77 0/1 99 78 47 31 0.4 exonic rs1142886 GBP4 AU nonsynonymous SNV NM_052941 exon10 c.G1626A p.M542I 0.359625 0.3998 0.261572 0.4313 0.3714 1 T 0.0 P -1.024 T 0.0 T 0.002 T Pathogenic 1_89652102_A->T 1 89652102 89652102 A T snp 842.77 0/1 99 76 44 32 0.42 exonic rs655260 GBP4 AU nonsynonymous SNV NM_052941 exon10 c.T1621A p.Y541N 0.359625 0.3998 0.260880 0.4310 0.3707 1 T 0.0 P -1.050 T 0.0 T 0.0 T Pathogenic 1_89660811_A->T 1 89660811 89660811 A T snp 82.77 0/1 28 5 1 4 0.8 intronic rs3795541 GBP4 AU NM_052941 exon9 c.10043-168A>T 0.0163738 0.0625 Uncertain 1_89661228_T->G 1 89661228 89661228 T G snp 111.77 0/1 99 10 6 4 0.4 intronic rs650448 GBP4 AU NM_052941 exon9 c.10171+121T>G 0.625 0.7907 Uncertain 1_89726592_G->A 1 89726592 89726592 G A snp 1241.77 1/1 90 35 1 34 0.97 intronic rs535351 GBP5 AU NM_052942 exon1 c.114+92G>A 0.678714 0.5645 Uncertain 1_89727870_A->T 1 89727870 89727870 A T snp 585.77 0/1 99 42 20 22 0.52 intronic rs76346754 GBP5 AU NM_052942 exon2 c.1516-32A>T 0.142772 0.2411 0.134707 0.1747 0.2509 Uncertain 1_89730723_C->T 1 89730723 89730723 C T snp 855.77 0/1 99 88 49 39 0.44 intronic rs9628688 GBP5 AU NM_052942 exon5 c.4263+74C>T 0.426118 0.3234 Uncertain 1_89731959_G->A 1 89731959 89731959 G A snp 438.77 0/1 99 38 21 17 0.45 intronic rs12729209 GBP5 AU NM_052942 exon6 c.5642-69G>A 0.415335 0.3115 Uncertain 1_89732237_G->A 1 89732237 89732237 G A snp 1220.77 0/1 99 85 37 48 0.56 exonic rs61729628 GBP5 AU synonymous SNV NM_001134486 exon6 c.C660T p.P220P 0.14357 0.245 0.134630 0.1739 0.2577 Uncertain 1_89733273_T->C 1 89733273 89733273 T C snp 976.77 0/1 99 74 32 42 0.57 intronic rs6690597 GBP5 AU NM_052942 exon8 c.6823+64T>C 0.458067 0.3264 Uncertain 1_89734274_A->C 1 89734274 89734274 A C snp 80.28 1/1 9 3 0 3 1.0 intronic rs3795542 GBP5 AU NM_052942 exon9 c.8025-137A>C 0.425319 0.3194 Uncertain 1_89735314_G->A 1 89735314 89735314 G A snp 310.77 0/1 99 22 12 10 0.45 intronic rs3806338 GBP5 AU NM_052942 exon10 c.8871+57G>A 0.130791 0.246 Uncertain 1_89845927_T->- 1 89845927 89845927 T - indel 1688.73 0/1 99 112 48 64 0.57 intronic rs11361992 GBP6 AU NM_198460 exon6 c.11834-17delT 0.861222 0.7272 0.898130 0.8841 0.7534 Uncertain 1_89847372_G->T 1 89847372 89847372 G T snp 1741.77 0/1 99 203 122 81 0.4 exonic rs4658359 GBP6 AU nonsynonymous SNV NM_198460 exon7 c.G991T p.A331S 0.805911 0.7262 0.791096 0.7769 0.7494 0.11 T 0.0 P -0.897 T 0.835 T 0.612 P Pathogenic 1_89847411_C->T 1 89847411 89847411 C T snp 1667.77 0/1 99 176 99 77 0.44 exonic rs4658360 GBP6 AU nonsynonymous SNV NM_198460 exon7 c.C1030T p.L344F 0.805911 0.7262 0.791096 0.7771 0.7501 0.33 T 0.0 P -0.902 T 0.01 T 0.025 T Pathogenic 1_89847444_A->G 1 89847444 89847444 A G snp 1493.77 0/1 99 164 102 62 0.38 exonic rs4658146 GBP6 AU nonsynonymous SNV NM_198460 exon7 c.A1063G p.M355V 0.80651 0.7252 0.791096 0.7771 0.7497 0.94 T 0.0 P -1.015 T 0.0 T 0.0 T Pathogenic 1_89849201_C->G 1 89849201 89849201 C G snp 512.77 0/1 99 48 26 22 0.46 intronic rs928652 GBP6 AU NM_198460 exon9 c.15100-9C>G 0.860623 0.7272 0.897355 0.8828 0.7505 Uncertain 1_89849350_G->A 1 89849350 89849350 G A snp 455.77 0/1 99 28 10 18 0.64 intronic rs928653 GBP6 AU NM_198460 exon9 c.15203+37G>A 0.860623 0.7272 0.897355 0.8827 0.7505 Uncertain 1_89849441_T->G 1 89849441 89849441 T G snp 163.77 0/1 99 11 4 7 0.64 intronic rs928654 GBP6 AU NM_198460 exon9 c.15203+128T>G 0.860623 0.7272 Uncertain 1_89849742_A->T 1 89849742 89849742 A T snp 429.77 0/1 99 46 27 19 0.41 exonic rs959460 GBP6 AU nonsynonymous SNV NM_198460 exon10 c.A1559T p.D520V 0.860623 0.7272 0.897355 0.8828 0.7505 0.04 T 0.0 P -1.036 T 0.011 T 0.063 T Pathogenic 1_89885854_G->A 1 89885854 89885854 G A snp 509.77 0/1 99 45 20 25 0.56 ncRNA_exonic rs6673154 GBP1P1 AU 0.86262 0.7282 Uncertain 1_89888530_C->T 1 89888530 89888530 C T snp 1424.77 0/1 99 135 74 61 0.45 ncRNA_intronic rs4261099 GBP1P1 AU 0.86242 0.7282 Uncertain 1_89888552_T->A 1 89888552 89888552 T A snp 1866.77 0/1 99 182 98 84 0.46 ncRNA_intronic rs4282800 GBP1P1 AU 0.862021 0.7282 Uncertain 1_89888585_C->G 1 89888585 89888585 C G snp 2533.77 0/1 99 249 141 108 0.43 ncRNA_intronic rs4415545 GBP1P1 AU 0.86262 0.7282 Uncertain 1_89888588_G->T 1 89888588 89888588 G T snp 2512.77 0/1 99 250 144 106 0.42 ncRNA_intronic rs4506445 GBP1P1 AU 0.86262 0.7282 Uncertain 1_90048132_T->C 1 90048132 90048132 T C snp 204.77 0/1 99 16 9 7 0.44 intronic rs2279085 LRRC8B AU 0.167532 0.1687 Uncertain 1_90049040_A->G 1 90049040 90049040 A G snp 3226.07 0/1 99 250 118 132 0.53 exonic rs36084789 LRRC8B AU synonymous SNV NM_015350 exon5 c.A831G p.P277P 0.161542 0.1677 0.197678 0.2344 0.1986 Uncertain 1_90171835_C->T 1 90171835 90171835 C T snp 2650.77 1/1 99 102 0 102 1.0 intronic rs6657969 LRRC8C AU NM_032270 exon3 c.26235-6432C>T 0.987819 1 0.9989 1 Uncertain 1_90178743_A->G 1 90178743 90178743 A G snp 5119.77 1/1 99 163 0 163 1.0 exonic rs474536 LRRC8C AU nonsynonymous SNV NM_032270 exon3 c.A614G p.D205G 0.986022 1 0.984161 0.9952 1 0.56 T 0.000 P -0.990 T 0.0 T 0.0 T Pathogenic 1_90179704_A->G 1 90179704 90179704 A G snp 2180.77 0/1 99 156 70 86 0.55 exonic rs147530701 LRRC8C AU synonymous SNV NM_032270 exon3 c.A1575G p.L525L 0.000998403 0.005 0.000077 0.0006 0.0084 Uncertain 1_90470915_T->A 1 90470915 90470915 T A snp 665.77 1/1 51 18 0 18 1.0 UTR3 rs11808927 ZNF326 AU 0.638179 0.8889 Uncertain 1_90475947_A->G 1 90475947 90475947 A G snp 304.78 1/1 24 8 0 8 1.0 intergenic rs12086543 ZNF326 AU 0.852037 0.9732 Uncertain 1_90486412_T->G 1 90486412 90486412 T G snp 3008.77 1/1 99 111 0 111 1.0 intergenic rs2816881 ZNF326 AU 0.693091 0.8909 0.593188 0.6211 0.9027 Uncertain 1_90493026_G->A 1 90493026 90493026 G A snp 2118.77 1/1 99 76 0 76 1.0 intergenic rs10922744 ZNF326 AU 0.631989 0.8899 0.535676 0.6007 0.9010 Uncertain 1_91447985_C->T 1 91447985 91447985 C T snp 885.77 1/1 63 35 0 35 1.0 intronic rs358691 ZNF644 AD NM_201269 exon5 c.65573+58C>T 0.954473 1 0.925154 Uncertain 1_91728053_G->A 1 91728053 91728053 G A snp 1779.77 1/1 99 66 0 66 1.0 exonic rs585898 HFM1 AR synonymous SNV NM_001017975 exon37 c.C4071T p.A1357A 0.999201 1 0.999000 0.9997 1 1.000 P -1.069 T Likely benign 1_91728202_T->C 1 91728202 91728202 T C snp 394.77 1/1 30 12 0 12 1.0 intronic rs555432 HFM1 AR NM_001017975 exon3 c.1303+53T>C 0.999201 1 Uncertain 1_91739208_C->T 1 91739208 91739208 C T snp 780.77 1/1 57 25 0 25 1.0 intronic rs281964 HFM1 AR NM_001017975 exon6 c.12422-60C>T 0.999201 1 Uncertain 1_91739414_G->A 1 91739414 91739414 G A snp 569.77 1/1 42 20 0 20 1.0 intronic rs281963 HFM1 AR NM_001017975 exon6 c.12526+42G>A 0.999201 1 0.998996 0.9997 1 Uncertain 1_91781304_T->C 1 91781304 91781304 T C snp 190.9 1/1 15 10 0 10 1.0 intronic rs281991 HFM1 AR NM_001017975 exon12 c.54525-67T>C 0.999201 1 Uncertain 1_91781413_T->G 1 91781413 91781413 T G snp 1170.77 1/1 84 48 0 48 1.0 exonic rs281992 HFM1 AR synonymous SNV NM_001017975 exon28 c.A3099C p.I1033I 0.762979 0.8244 0.688106 0.7059 0.8425 1.0 P Uncertain 1_91793877_T->C 1 91793877 91793877 T C snp 727.77 1/1 54 24 0 24 1.0 intronic rs281972 HFM1 AR NM_001017975 exon19 c.63477+3554T>C 0.999201 1 Uncertain 1_91794091_G->C 1 91794091 91794091 G C snp 773.77 0/1 99 52 23 29 0.56 intronic rs7541566 HFM1 AR NM_001017975 exon19 c.63477+3768G>C 0.338259 0.5347 Uncertain 1_91813184_C->T 1 91813184 91813184 C T snp 355.78 1/1 27 14 0 14 1.0 intronic rs281936 HFM1 AR NM_001017975 exon21 c.86187+151C>T 0.999201 1 Uncertain 1_91840784_T->C 1 91840784 91840784 T C snp 99.28 1/1 9 3 0 3 1.0 intronic rs282037 HFM1 AR NM_001017975 exon27 c.114068-130T>C 0.999201 1 Uncertain 1_91841301_T->C 1 91841301 91841301 T C snp 1962.77 1/1 99 64 0 64 1.0 intronic rs282036 HFM1 AR NM_001017975 exon28 c.114438+17T>C 0.999201 1 0.999065 0.9997 1 Uncertain 1_91846374_C->A 1 91846374 91846374 C A snp 360.78 1/1 27 15 0 15 1.0 intronic rs282033 HFM1 AR NM_001017975 exon33 c.119622-94C>A 0.999201 1 Uncertain 1_91851253_T->C 1 91851253 91851253 T C snp 2100.77 1/1 99 77 0 77 1.0 exonic rs282026 HFM1 AR synonymous SNV NM_001017975 exon5 c.A633G p.Q211Q 0.999201 1 0.999000 0.9997 1 Uncertain 1_91859795_T->C 1 91859795 91859795 T C snp 3323.77 1/1 99 125 0 125 1.0 exonic rs282009 HFM1 AR nonsynonymous SNV NM_001017975 exon4 c.A349G p.I117V 0.999201 1 0.999077 0.9997 1 0.92 T 0.000 P -0.972 T 0.0 T 0.0 T Pathogenic 1_91870410_G->C 1 91870410 91870410 G C snp 2005.77 0/1 99 205 115 90 0.44 UTR5 rs17131429 HFM1 AR 0.242013 0.2857 0.3835 0.2836 0 D 0.092 P -0.949 T Uncertain 1_91973557_T->G 1 91973557 91973557 T G snp 1425.77 1/1 99 49 0 49 1.0 intronic rs553606 CDC7 AU NM_001134419 exon3 c.6221+63T>G 0.999201 1 Uncertain 1_91974034_G->A 1 91974034 91974034 G A snp 174.9 1/1 15 6 0 6 1.0 intronic rs1876264 CDC7 AU NM_001134419 exon4 c.6681+80G>A 0.339856 0.498 Uncertain 1_91980447_A->G 1 91980447 91980447 A G snp 7267.77 1/1 99 250 0 250 1.0 exonic rs483532 CDC7 AU synonymous SNV NM_001134419 exon9 c.A990G p.T330T 0.76897 0.7579 0.779179 0.7773 0.7572 Uncertain 1_91980649_G->A 1 91980649 91980649 G A snp 2284.77 1/1 99 65 0 65 1.0 intronic rs10874758 CDC7 AU NM_001134419 exon9 c.13281+95G>A 0.340056 0.498 Uncertain 1_91989572_T->G 1 91989572 91989572 T G snp 1448.77 1/1 99 47 1 46 0.98 intronic rs488126 CDC7 AU NM_001134419 exon12 c.22324-25T>G 0.988419 1 0.989006 0.9749 0.9999 Uncertain 1_92108899_C->T 1 92108899 92108899 C T snp 7492.77 1/1 99 250 0 250 1.0 intergenic rs2493202 CDC7 AU 0.821086 0.9643 0.7816 0.9720 Uncertain 1_92109076_A->T 1 92109076 92109076 A T snp 2376.77 0/1 99 204 109 95 0.47 intergenic rs184539919 CDC7 AU 0.00738818 0.004 0.0054 0.0067 Uncertain 1_92149277_C->T 1 92149277 92149277 C T snp 332.77 0/1 99 20 7 13 0.65 UTR3 rs1131243 TGFBR3 AU 0.101238 0.1062 0.143941 0.1789 0.1864 Uncertain 1_92163786_G->T 1 92163786 92163786 G T snp 264.77 0/1 99 16 8 8 0.5 intronic rs2296621 TGFBR3 AU NM_001195683 exon3 c.14392+99G>T 0.105032 0.0565 Uncertain 1_92174260_A->G 1 92174260 92174260 A G snp 3401.77 1/1 99 124 0 124 1.0 exonic rs284878 TGFBR3 AU synonymous SNV NM_003243 exon14 c.T2247C p.T749T 0.906749 0.7351 0.939413 0.9337 0.7731 Uncertain 1_92174415_G->A 1 92174415 92174415 G A snp 236.77 0/1 99 12 4 8 0.67 intronic rs2038931 TGFBR3 AU NM_001195683 exon4 c.25045+75G>A 0.204673 0.3671 Uncertain 1_92177938_A->G 1 92177938 92177938 A G snp 1996.77 0/1 99 182 94 88 0.48 exonic rs1805113 TGFBR3 AU synonymous SNV NM_003243 exon13 c.T2028C p.F676F 0.279752 0.0863 0.404813 0.3660 0.1070 Uncertain 1_92184814_G->T 1 92184814 92184814 G T snp 659.77 0/1 99 91 60 31 0.34 intronic rs7524066 TGFBR3 AU NM_001195683 exon8 c.35573-54G>T 0.227236 0.0625 Uncertain 1_92185657_C->T 1 92185657 92185657 C T snp 875.77 0/1 99 60 26 34 0.57 exonic rs1805112 TGFBR3 AU synonymous SNV NM_003243 exon9 c.G1206A p.P402P 0.40615 0.5308 0.381670 0.4177 0.5325 Uncertain 1_92200382_T->C 1 92200382 92200382 T C snp 3400.77 0/1 99 250 123 127 0.51 exonic rs2306888 TGFBR3 AU synonymous SNV NM_003243 exon5 c.A519G p.S173S 0.0323482 0.0913 0.000538 0.0177 0.0993 Uncertain 1_92200593_A->G 1 92200593 92200593 A G snp 1694.77 0/1 99 117 58 59 0.5 intronic rs11165376 TGFBR3 AU NM_001195683 exon13 c.51221+77A>G 0.616613 0.5784 Uncertain 1_92200597_G->A 1 92200597 92200597 G A snp 1458.77 0/1 99 106 51 55 0.52 intronic rs12124904 TGFBR3 AU NM_001195683 exon13 c.51221+81G>A 0.372005 0.4216 Uncertain 1_92200627_T->C 1 92200627 92200627 T C snp 1862.77 1/1 99 53 0 53 1.0 intronic rs10874913 TGFBR3 AU NM_001195683 exon13 c.51221+111T>C 0.890575 0.996 Uncertain 1_92223976_A->G 1 92223976 92223976 A G snp 536.77 1/1 42 14 0 14 1.0 intronic rs284176 TGFBR3 AU NM_001195683 exon14 c.74874-193A>G 0.663938 0.5238 Uncertain 1_92224067_C->T 1 92224067 92224067 C T snp 2849.77 1/1 99 105 0 105 1.0 intronic rs3738441 TGFBR3 AU NM_001195683 exon14 c.74874-102C>T 0.362021 0.6548 Uncertain 1_92251600_C->G 1 92251600 92251600 C G snp 86.77 0/1 30 4 1 3 0.75 intronic rs72967197 TGFBR3 AU NM_001195683 exon15 c.113548-11243C>G 0.21246 0.2827 Uncertain 1_92262874_T->C 1 92262874 92262874 T C snp 1367.77 0/1 99 97 39 58 0.6 exonic rs2810904 TGFBR3 AU synonymous SNV NM_003243 exon3 c.A216G p.A72A 0.715256 0.7748 0.678610 0.6631 0.7921 Uncertain 1_92428495_C->A 1 92428495 92428495 C A snp 1715.77 1/1 99 64 0 64 1.0 exonic rs10783071 BRDT AU nonsynonymous SNV NM_001242806 exon2 c.C184A p.Q62K 0.75599 0.6141 0.859219 0.8763 0.6033 0.44 T 0.0 P -0.952 T 0.0 T 0.0 T Pathogenic 1_92446112_T->C 1 92446112 92446112 T C snp 336.78 1/1 27 11 0 11 1.0 intronic rs11165911 BRDT AU NM_001242810 exon9 c.15989-87T>C 0.715655 0.6111 Uncertain 1_92446398_T->A 1 92446398 92446398 T A snp 1497.77 1/1 99 53 1 52 0.98 intronic rs2303967 BRDT AU NM_001242810 exon9 c.16162+26T>A 0.661542 0.6081 0.703615 0.7601 0.5999 Uncertain 1_92447004_A->G 1 92447004 92447004 A G snp 632.77 1/1 48 21 0 21 1.0 intronic rs10875104 BRDT AU NM_001242810 exon11 c.16728+66A>G 0.715655 0.6111 Uncertain 1_92457843_C->T 1 92457843 92457843 C T snp 622.77 1/1 45 28 0 28 1.0 exonic rs10747493 BRDT AU nonsynonymous SNV NM_001242807 exon13 c.C1949T p.P650L 0.710064 0.6081 0.778205 0.8166 0.6111 0.16 T 0.0 P -0.913 T 0.0 T 0.0 T Pathogenic 1_92458024_G->A 1 92458024 92458024 G A snp 122.77 0/1 66 6 2 4 0.67 intronic BRDT AU NM_001242810 exon14 c.27661+153G>A Uncertain 1_92568263_A->G 1 92568263 92568263 A G snp 433.77 1/1 33 15 0 15 1.0 intronic rs527412 BTBD8 AU NM_183242 exon3 c.22098+37A>G 0.778355 0.9732 0.698276 0.7060 0.9786 Uncertain 1_92573670_G->A 1 92573670 92573670 G A snp 1155.77 0/1 99 81 34 47 0.58 intronic rs11166163 BTBD8 AU NM_183242 exon4 c.27430+112G>A 0.205272 0.1548 Uncertain 1_92632496_-->T 1 92632496 92632496 - T indel 883.73 0/1 99 73 34 39 0.53 upstream KIAA1107 AU Uncertain 1_92646021_G->A 1 92646021 92646021 G A snp 3271.77 1/1 99 116 0 116 1.0 exonic rs1483022 KIAA1107 AU synonymous SNV NM_015237 exon8 c.G1467A p.K489K 0.710863 0.9732 0.6736 0.9695 Uncertain 1_92647223_A->G 1 92647223 92647223 A G snp 2342.77 1/1 99 76 0 76 1.0 exonic rs560389 KIAA1107 AU nonsynonymous SNV NM_015237 exon8 c.A2669G p.N890S 0.83127 0.9752 0.751096 0.7387 0.9773 0.88 T 0.0 P -0.925 T 0.0 T 0.0 T Pathogenic 1_92647532_C->A 1 92647532 92647532 C A snp 3298.77 1/1 99 113 0 113 1.0 exonic rs565156 KIAA1107 AU nonsynonymous SNV NM_015237 exon8 c.C2978A p.T993N 0.995607 1 0.986640 0.9918 1 0.34 T 0.040 P -0.949 T 0.003 T 0.015 T Pathogenic 1_92711067_A->T 1 92711067 92711067 A T snp 1146.77 1/1 81 43 0 43 1.0 intronic rs3131827 C1orf146 AU NM_001012425 exon6 c.14119-29A>T 0.620807 0.9732 0.452839 0.5246 0.9709 Uncertain 1_92712266_C->T 1 92712266 92712266 C T snp 1088.77 1/1 78 43 0 43 1.0 intronic rs974924 GLMN AD NM_053274 exon1 c.117+63C>T 0.996406 1 Uncertain 1_92712599_AA->- 1 92712599 92712600 AA - indel 5472.73 1/1 99 116 0 116 1.0 intronic rs35752451 GLMN AD NM_053274 exon2 c.532-19_532-18delAA 0.61881 0.9732 0.450487 0.5242 0.9707 Uncertain 1_92729446_C->T 1 92729446 92729446 C T snp 99.28 1/1 9 3 0 3 1.0 intronic rs3103176 GLMN AD NM_053274 exon5 c.17203+157C>T 0.619209 0.9732 Uncertain 1_92735359_T->C 1 92735359 92735359 T C snp 1520.77 1/1 99 55 0 55 1.0 intronic rs1487540 GLMN AD NM_053274 exon11 c.23247+26T>C 0.619808 0.9732 0.454399 0.5443 0.9717 Uncertain 1_92755943_G->A 1 92755943 92755943 G A snp 340.78 1/1 27 12 0 12 1.0 intronic rs3103178 GLMN AD NM_053274 exon15 c.43777+80G>A 0.73143 0.9732 Uncertain 1_92764828_T->A 1 92764828 92764828 T A snp 1297.77 1/1 93 46 0 46 1.0 intronic rs10875348 RPAP2 AU NM_024813 exon1 c.73+125T>A 0.996406 1 Uncertain 1_92765848_A->T 1 92765848 92765848 A T snp 1157.77 1/1 84 43 2 41 0.95 intronic rs1542685 RPAP2 AU NM_024813 exon2 c.1166+52A>T 0.619609 0.9732 0.447882 0.5231 0.9711 Uncertain 1_92799151_C->T 1 92799151 92799151 C T snp 182.9 1/1 15 5 0 5 1.0 intronic rs1487537 RPAP2 AU NM_024813 exon9 c.34400+121C>T 0.931709 0.998 Uncertain 1_92852504_A->G 1 92852504 92852504 A G snp 833.77 1/1 60 33 0 33 1.0 intronic rs10747411 RPAP2 AU NM_024813 exon13 c.87937-63A>G 0.93151 0.998 0.848664 Uncertain 1_92946479_G->A 1 92946479 92946479 G A snp 1892.77 1/1 99 62 0 62 1.0 exonic rs11164605 GFI1 AD synonymous SNV NM_005263 exon4 c.C465T p.C155C 0.91893 0.9752 0.851884 0.8883 0.9696 Uncertain 1_92979124_G->A 1 92979124 92979124 G A snp 209.84 1/1 18 6 0 6 1.0 UTR3 rs6603978 EVI5 AU 0.837859 0.9593 Uncertain 1_92979354_A->G 1 92979354 92979354 A G snp 4225.77 1/1 99 146 0 146 1.0 exonic rs6603979 EVI5 AU synonymous SNV NM_005665 exon18 c.T2292C p.G764G 0.920327 0.9752 0.838382 0.8520 0.9633 Uncertain 1_93029453_A->G 1 93029453 93029453 A G snp 428.77 1/1 33 13 0 13 1.0 intronic rs6656432 EVI5 AU NM_005665 exon2 c.50082+159A>G 0.919928 0.9752 Uncertain 1_93071048_G->T 1 93071048 93071048 G T snp 2438.77 1/1 99 83 0 83 1.0 intronic rs2050597 EVI5 AU NM_005665 exon3 c.91747+89G>T 0.950479 0.9752 Uncertain 1_93089823_T->C 1 93089823 93089823 T C snp 3873.77 1/1 99 151 0 151 1.0 exonic rs7514716 EVI5 AU synonymous SNV NM_005665 exon14 c.A1689G p.Q563Q 0.949081 0.9752 0.913194 0.9216 0.9635 Uncertain 1_93128854_A->G 1 93128854 93128854 A G snp 935.77 1/1 69 35 0 35 1.0 intronic rs10747450 EVI5 AU NM_005665 exon8 c.152283-2641A>G 0.950479 0.9752 Uncertain 1_93160902_T->C 1 93160902 93160902 T C snp 4241.77 1/1 99 156 0 156 1.0 exonic rs2391199 EVI5 AU nonsynonymous SNV NM_005665 exon7 c.A1006G p.I336V 0.95028 0.9752 0.912963 0.9216 0.9634 0.82 T 0.988 P -0.935 T 0.0 T 0.006 T Pathogenic 1_93163385_A->G 1 93163385 93163385 A G snp 1785.77 1/1 99 67 0 67 1.0 intronic rs7418336 EVI5 AU NM_005665 exon13 c.184204-31A>G 0.709065 0.9296 0.601000 0.6838 0.9201 Uncertain 1_93163633_C->T 1 93163633 93163633 C T snp 512.77 1/1 39 14 0 14 1.0 intronic rs1017008 EVI5 AU NM_005665 exon13 c.184330+91C>T 0.95028 0.9752 Uncertain 1_93167610_C->T 1 93167610 93167610 C T snp 311.78 1/1 24 9 0 9 1.0 intronic rs10218567 EVI5 AU NM_005665 exon14 c.188485-87C>T 0.95008 0.9742 Uncertain 1_93167854_A->G 1 93167854 93167854 A G snp 1187.77 1/1 87 40 0 40 1.0 intronic rs10218670 EVI5 AU NM_005665 exon14 c.188560+82A>G 0.95008 0.9752 Uncertain 1_93306317_G->A 1 93306317 93306317 G A snp 3741.77 1/1 99 135 0 135 1.0 ncRNA_exonic rs10874744 SNORA66 AU 0.691893 0.9603 0.569062 0.6770 0.9502 Uncertain 1_93426866_T->C 1 93426866 93426866 T C snp 1052.77 1/1 75 36 0 36 1.0 intronic rs945629 FAM69A AU NM_001006605 exon5 c.117993-66T>C 0.994209 1 Uncertain 1_93426869_G->C 1 93426869 93426869 G C snp 405.77 0/1 99 36 18 18 0.5 intronic rs1415069 FAM69A AU NM_001006605 exon5 c.117993-63G>C 0.775559 0.7639 Uncertain 1_93545157_G->A 1 93545157 93545157 G A snp 1299.77 1/1 93 50 0 50 1.0 intronic rs2815419 MTF2 AU NM_001164392 exon1 c.5+69G>A 0.77496 0.9335 0.795445 Uncertain 1_93580581_G->C 1 93580581 93580581 G C snp 2192.77 1/1 99 90 0 90 1.0 exonic rs2815427 MTF2 AU nonsynonymous SNV NM_001164393 exon3 c.G113C p.C38S 0.999201 1 0.998693 0.9996 1 1 T 0.000 P -0.993 T 0.0 T 0.0 T Pathogenic 1_93580879_T->C 1 93580879 93580879 T C snp 182.9 1/1 15 5 0 5 1.0 intronic rs2295424 MTF2 AU NM_001164393 exon4 c.762-147T>C 0.492013 0.6409 Uncertain 1_93580992_C->T 1 93580992 93580992 C T snp 2545.77 1/1 99 93 1 92 0.99 intronic rs566843 MTF2 AU NM_001164393 exon4 c.762-34C>T 0.665735 0.9365 0.599493 0.7437 0.9330 Uncertain 1_93581024_T->C 1 93581024 93581024 T C snp 3942.77 1/1 99 153 0 153 1.0 splicing rs2295423 MTF2 AU NM_001164393 exon4 c.762-2T>C 0.497604 0.6409 0.479317 0.5919 0.6416 Pathogenic 1_93592577_T->A 1 93592577 93592577 T A snp 207.84 1/1 18 7 0 7 1.0 intronic rs490153 MTF2 AU NM_001164393 exon8 c.12524-211T>A 0.665735 0.9365 Uncertain 1_93602194_C->T 1 93602194 93602194 C T snp 2753.77 1/1 99 99 1 98 0.99 intronic rs2281524 MTF2 AU NM_001164393 exon13 c.21962-32C>T 0.846845 0.7024 0.910643 0.8636 0.7058 Uncertain 1_93620393_G->A 1 93620393 93620393 G A snp 4531.77 1/1 99 169 0 169 1.0 exonic rs1060622 TMED5 AU nonsynonymous SNV NM_016040 exon4 c.C524T p.T175I 0.490415 0.6438 0.470321 0.5864 0.6418 0.06 T 1.0 P -1.034 T 0.945 T 0.71 D Pathogenic 1_93621483_A->G 1 93621483 93621483 A G snp 611.77 1/1 45 21 0 21 1.0 intronic rs1057257 TMED5 AU NM_001167830 exon2 c.1209-109A>G 0.516374 0.6448 Uncertain 1_93646207_T->C 1 93646207 93646207 T C snp 6344.77 1/1 99 218 0 218 1.0 UTR5 rs2297707 TMED5 AU 0.515176 0.6438 0.530335 0.6157 0.6424 Uncertain 1_93646620_C->T 1 93646620 93646620 C T snp 50.74 1/1 6 2 0 2 1.0 intronic rs2815408 CCDC18 AU 0.885583 1 Uncertain 1_93648816_A->G 1 93648816 93648816 A G snp 101.28 1/1 9 4 0 4 1.0 intronic rs2815409 CCDC18 AU 0.885583 1 Uncertain 1_93649732_A->G 1 93649732 93649732 A G snp 1768.77 1/1 99 54 0 54 1.0 intronic rs6682670 CCDC18 AU NM_206886 exon3 c.785+29A>G 0.515775 0.6448 0.527106 0.6248 0.6494 Uncertain 1_93659350_A->T 1 93659350 93659350 A T snp 396.77 1/1 30 13 0 13 1.0 intronic rs2815411 CCDC18 AU NM_206886 exon6 c.10383+49A>T 0.885184 1 0.817714 0.8615 0.9999 Uncertain 1_93672723_A->C 1 93672723 93672723 A C snp 1105.77 1/1 78 43 0 43 1.0 exonic rs2815413 CCDC18 AU nonsynonymous SNV NM_206886 exon9 c.A977C p.N326T 0.748003 0.9623 0.698543 0.8245 0.9593 0.47 T 1.000 P -1.032 T 0.649 T 0.359 P Pathogenic 1_93676314_A->G 1 93676314 93676314 A G snp 921.77 1/1 69 27 0 27 1.0 intronic rs555161 CCDC18 AU NM_206886 exon10 c.27440-44A>G 0.515775 0.6448 0.528097 0.6209 0.6517 Uncertain 1_93676578_A->G 1 93676578 93676578 A G snp 473.77 1/1 36 15 0 15 1.0 intronic rs797676 CCDC18 AU NM_206886 exon10 c.27565+95A>G 0.489816 0.6448 Uncertain 1_93687327_T->- 1 93687327 93687327 T - indel 761.73 0/1 99 89 60 29 0.33 intronic rs370389215 CCDC18 AU NM_206886 exon15 c.38382+27delT 0.00199681 0.0099 0.0016 0.0194 Uncertain 1_93711782_T->A 1 93711782 93711782 T A snp 2900.77 1/1 99 105 0 105 1.0 intronic rs3754186 CCDC18 AU NM_206886 exon22 c.62843+21T>A 0.442292 0.6429 0.385527 0.5061 0.6387 Uncertain 1_93724457_A->C 1 93724457 93724457 A C snp 914.77 0/1 99 80 39 41 0.51 intronic rs79846387 CCDC18 AU NM_206886 exon26 c.75524+15A>C 0.00539137 0.0268 0.000169 0.0027 0.0340 Uncertain 1_93744077_T->C 1 93744077 93744077 T C snp 322.77 0/1 99 42 27 15 0.36 UTR3 rs191814946 CCDC18 AU 0.000599042 0.003 0.0003 0.0042 Uncertain 1_93998641_T->- 1 93998641 93998641 T - indel 1787.73 1/1 99 43 0 43 1.0 intronic rs34814765 FNBP1L AU NM_001164473 exon8 c.84787+16delT 0.473214 0.5571 0.5940 Uncertain 1_94012287_G->A 1 94012287 94012287 G A snp 343.78 1/1 27 9 0 9 1.0 intronic rs237425 FNBP1L AU NM_001164473 exon13 c.98560-111G>A 0.885583 1 Uncertain 1_94041787_-->AC 1 94041787 94041787 - AC indel 2297.73 1/1 99 52 0 52 1.0 intronic rs25569 BCAR3 AU NM_003567 exon5 c.13889+101insAC 0.926118 0.998 Uncertain 1_94312482_-->C 1 94312482 94312482 - C indel 10283.7 1/1 99 250 0 250 1.0 intronic rs5776191 BCAR3 AU NM_001261408 exon14 c.284828-143insC 0.9998 1 0.999467 1.0000 0.9998 Uncertain 1_94312528_-->C 1 94312528 94312528 - C indel 9508.73 1/1 99 230 0 230 1.0 intronic rs147446599 BCAR3 AU NM_001261408 exon14 c.284828-97insC 1 1 0.998592 Uncertain 1_94312533_-->C 1 94312533 94312533 - C indel 3060.73 1/1 99 79 0 79 1.0 intronic rs202198870 BCAR3 AU NM_001261408 exon14 c.284828-92insC 0.9998 1 0.997674 Uncertain 1_94312543_-->CG 1 94312543 94312543 - CG indel 2794.73 1/1 99 74 0 74 1.0 intronic BCAR3 AU NM_001261408 exon14 c.284828-82insCG Uncertain 1_94312544_G->C 1 94312544 94312544 G C snp 2678.77 1/1 99 72 0 72 1.0 intronic BCAR3 AU NM_001261408 exon14 c.284828-81G>C Uncertain 1_94312554_-->G 1 94312554 94312554 - G indel 2756.73 1/1 99 69 0 69 1.0 intronic rs370018837 BCAR3 AU NM_001261408 exon14 c.284828-71insG 1 1 Uncertain 1_94312558_-->C 1 94312558 94312558 - C indel 2573.73 1/1 99 67 0 67 1.0 intronic rs374051518 BCAR3 AU NM_001261408 exon14 c.284828-67insC 0.999201 1 Uncertain 1_94312563_T->C 1 94312563 94312563 T C snp 1396.77 0/1 99 66 24 42 0.64 intronic rs78232831 BCAR3 AU NM_001261408 exon14 c.284828-62T>C Uncertain 1_94312566_G->T 1 94312566 94312566 G T snp 2302.77 1/1 99 66 0 66 1.0 intronic rs2391318 BCAR3 AU NM_001261408 exon14 c.284828-59G>T 0.821885 0.8651 Uncertain 1_94312567_T->C 1 94312567 94312567 T C snp 2422.77 1/1 99 66 0 66 1.0 intronic rs2391319 BCAR3 AU NM_001261408 exon14 c.284828-58T>C 0.821885 0.8651 Uncertain 1_94312573_GCGGCGGCCGGG->- 1 94312573 94312584 GCGGCGGCCGGG - indel 6478.73 1/1 99 66 0 66 1.0 intronic BCAR3 AU NM_001261408 exon14 c.284828-52_284828-41delGCGGCGGCCGGG Uncertain 1_94312581_-->GGCCCG 1 94312581 94312581 - GGCCCG indel 2129.73 1/1 99 66 0 66 1.0 intronic BCAR3 AU NM_001261408 exon14 c.284828-44insGGCCCG Uncertain 1_94335194_A->T 1 94335194 94335194 A T snp 96.77 0/1 99 13 8 5 0.38 UTR3 rs1051394 DNTTIP2 AU 0.536342 0.621 Uncertain 1_94341137_C->T 1 94341137 94341137 C T snp 325.77 0/1 99 24 14 10 0.42 intronic rs2273166 DNTTIP2 AU NM_014597 exon5 c.5794-63C>T 0.446486 0.619 Uncertain 1_94341267_A->G 1 94341267 94341267 A G snp 1855.77 0/1 99 170 88 82 0.48 exonic rs2273165 DNTTIP2 AU synonymous SNV NM_014597 exon3 c.T1740C p.F580F 0.533746 0.621 0.455496 0.4754 0.6274 Uncertain 1_94342564_C->A 1 94342564 94342564 C A snp 2178.77 0/1 99 196 109 87 0.44 exonic rs3747965 DNTTIP2 AU nonsynonymous SNV NM_014597 exon2 c.G927T p.E309D 0.344848 0.5565 0.274526 0.3538 0.5633 0.18 T 0.0 P -0.977 T 0.006 T 0.005 T Pathogenic 1_94343023_A->G 1 94343023 94343023 A G snp 3608.77 0/1 99 250 106 144 0.58 exonic rs2391322 DNTTIP2 AU synonymous SNV NM_014597 exon2 c.T468C p.P156P 0.436901 0.5585 0.364434 0.3931 0.5730 Uncertain 1_94343233_T->C 1 94343233 94343233 T C snp 2118.77 0/1 99 189 103 86 0.46 exonic rs3789457 DNTTIP2 AU synonymous SNV NM_014597 exon2 c.A258G p.E86E 0.759185 0.7857 0.725601 0.7170 0.7785 Uncertain 1_94344716_C->T 1 94344716 94344716 C T snp 3561.77 0/1 99 247 125 122 0.49 UTR5 rs2235971 DNTTIP2 AU 0.348243 0.5565 0.273731 0.3577 0.5681 Uncertain 1_94471075_A->G 1 94471075 94471075 A G snp 4387.77 1/1 99 158 2 156 0.99 exonic rs1762114 ABCA4 AU,AD,AR synonymous SNV NM_000350 exon44 c.T6069C p.I2023I 0.769968 0.8968 0.775719 0.8894 0.8885 CLINSIG=non-pathogenic;CLNDBN=not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000123433.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Uncertain 1_94474020_G->A 1 94474020 94474020 G A snp 715.77 1/1 54 18 0 18 1.0 intronic rs1191234 ABCA4 AU,AD,AR NM_000350 exon9 c.15061+167G>A 0.891174 0.9792 Uncertain 1_94476555_G->A 1 94476555 94476555 G A snp 728.77 1/1 57 21 0 21 1.0 intronic rs537831 ABCA4 AU,AD,AR NM_000350 exon11 c.17693+70G>A 0.691494 0.8194 CLINSIG=untested;CLNDBN=not_provided;CLNREVSTAT=no_assertion_provided;CLNACC=RCV000085743.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Uncertain 1_94480037_C->T 1 94480037 94480037 C T snp 477.77 0/1 99 31 14 17 0.55 intronic rs2275033 ABCA4 AU,AD,AR NM_000350 exon13 c.21306-61C>T 0.327077 0.1399 Uncertain 1_94480412_C->T 1 94480412 94480412 C T snp 46.79 0/1 23 3 1 2 0.67 intronic ABCA4 AU,AD,AR NM_000350 exon13 c.21454+166C>T Uncertain 1_94484060_T->- 1 94484060 94484060 T - indel 1944.73 0/1 99 105 49 56 0.53 intronic rs3838275 ABCA4 AU,AD,AR NM_000350 exon15 c.26345-1077delT 0.0626997 0.0694 Uncertain 1_94487286_AC->- 1 94487286 94487287 AC - indel 1240.73 0/1 99 72 42 30 0.42 intronic rs3831251 ABCA4 AU,AD,AR NM_000350 exon17 c.28478+16_28478+17delAC 0.224042 0.4762 0.149065 0.2135 0.4694 Uncertain 1_94487354_G->A 1 94487354 94487354 G A snp 1547.77 0/1 99 131 65 66 0.5 intronic rs472908 ABCA4 AU,AD,AR NM_000350 exon18 c.28609-47G>A 0.588858 0.4633 0.630231 0.5819 0.4556 CLINSIG=untested;CLNDBN=not_provided;CLNREVSTAT=no_assertion_provided;CLNACC=RCV000085672.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 ID=CS138134;DIS=Stargardt disease;TAG=DM?;PUB=23953153 DM? Uncertain 1_94495930_T->C 1 94495930 94495930 T C snp 1459.77 1/1 99 46 0 46 1.0 intronic rs547806 ABCA4 AU,AD,AR NM_000350 exon22 c.37191-53T>C 0.988219 0.999 Uncertain 1_94496253_G->A 1 94496253 94496253 G A snp 467.77 0/1 99 29 13 16 0.55 intronic rs2297671 ABCA4 AU,AD,AR NM_000350 exon22 c.37290+171G>A 0.391174 0.2639 Uncertain 1_94509226_G->T 1 94509226 94509226 G T snp 56.74 1/1 6 2 0 2 1.0 intronic rs4147839 ABCA4 AU,AD,AR NM_000350 exon30 c.50239+195G>T 0.42472 0.6627 Uncertain 1_94510415_C->T 1 94510415 94510415 C T snp 655.77 0/1 99 48 26 22 0.46 intronic rs72958486 ABCA4 AU,AD,AR NM_000350 exon31 c.51508+115C>T 0.0341454 0.0585 Uncertain 1_94528363_C->T 1 94528363 94528363 C T snp 2156.77 1/1 99 65 0 65 1.0 intronic rs4147833 ABCA4 AU,AD,AR NM_000350 exon38 c.69517+54C>T 0.373602 0.7758 CLINSIG=untested;CLNDBN=not_provided;CLNREVSTAT=no_assertion_provided;CLNACC=RCV000085423.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Uncertain 1_94544135_-->C 1 94544135 94544135 - C indel 1078.73 1/1 99 38 0 38 1.0 intronic rs281865386 ABCA4 AU,AD,AR NM_000350 exon41 c.85353-10insC 0.724405 0.7369 0.8127 CLINSIG=untested;CLNDBN=not_provided;CLNREVSTAT=no_assertion_provided;CLNACC=RCV000085391.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Uncertain 1_94544234_T->C 1 94544234 94544234 T C snp 1515.77 0/1 99 148 85 63 0.43 exonic rs3112831 ABCA4 AU,AD,AR nonsynonymous SNV NM_000350 exon10 c.A1268G p.H423R 0.220847 0.254 0.260649 0.2553 0.2477 0.39 T 0.001 P -1.070 T 0.0 T 0.0 T CLINSIG=untested;CLNDBN=not_provided;CLNREVSTAT=no_assertion_provided;CLNACC=RCV000085382.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 ID=CM015072;DIS=Stargardt disease;TAG=DM?;PUB=11328725 DM? Pathogenic 1_94544276_G->A 1 94544276 94544276 G A snp 1874.77 0/1 99 170 83 87 0.51 intronic rs4147830 ABCA4 AU,AD,AR NM_000350 exon41 c.85470+14G>A 0.514776 0.5992 0.465477 0.4814 0.5627 CLINSIG=non-pathogenic;CLNDBN=not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000085380.2;CLNDSDB=MedGen;CLNDSDBID=CN221809 Uncertain 1_94544327_T->- 1 94544327 94544327 T - indel 2269.73 0/1 99 126 58 68 0.54 intronic rs3215952 ABCA4 AU,AD,AR NM_000350 exon41 c.85470+65delT 0.514976 0.5982 Uncertain 1_94544805_-->CA 1 94544805 94544805 - CA indel 130.73 0/1 99 22 16 6 0.27 intronic rs139796930 ABCA4 AU,AD,AR NM_000350 exon42 c.86085-72insCA 0.186701 0.2222 Uncertain 1_94545160_C->T 1 94545160 94545160 C T snp 225.77 0/1 99 16 8 8 0.5 intronic rs2275035 ABCA4 AU,AD,AR NM_000350 exon42 c.86225+143C>T 0.35603 0.5417 Uncertain 1_94545203_A->C 1 94545203 94545203 A C snp 54.74 1/1 6 2 0 2 1.0 intronic rs17111014 ABCA4 AU,AD,AR NM_000350 exon42 c.86225+186A>C 0.0301518 0.0278 Uncertain 1_94549083_T->C 1 94549083 94549083 T C snp 569.77 1/1 42 21 0 21 1.0 intronic rs574741 ABCA4 AU,AD,AR NM_000350 exon44 c.90205+86T>C 0.745407 0.8651 Uncertain 1_94568491_A->G 1 94568491 94568491 A G snp 281.77 0/1 99 32 19 13 0.41 intronic rs4847278 ABCA4 AU,AD,AR NM_000350 exon46 c.109778-79A>G 0.340455 0.2173 Uncertain 1_94574053_C->A 1 94574053 94574053 C A snp 411.74 0/1 6 18 1 17 0.94 intronic rs11165073 ABCA4 AU,AD,AR NM_000350 exon47 c.115340-79C>A 0.542732 0.6528 Uncertain 1_94576968_T->C 1 94576968 94576968 T C snp 754.77 0/1 99 64 33 31 0.48 intronic rs2297634 ABCA4 AU,AD,AR NM_000350 exon48 c.118201-25T>C 0.546925 0.6528 0.473089 0.5219 0.6535 CLINSIG=untested;CLNDBN=not_provided;CLNREVSTAT=no_assertion_provided;CLNACC=RCV000085538.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Uncertain 1_94578548_T->C 1 94578548 94578548 T C snp 3787.77 1/1 99 136 0 136 1.0 exonic rs4847281 ABCA4 AU,AD,AR synonymous SNV NM_000350 exon2 c.A141G p.P47P 0.987021 1 0.987698 0.9964 1 CLINSIG=untested,non-pathogenic;CLNDBN=not_provided,not_specified;CLNREVSTAT=no_assertion_provided,no_assertion_criteria_provided;CLNACC=RCV000085396.1,RCV000152712.2;CLNDSDB=MedGen,MedGen;CLNDSDBID=CN221809,CN169374 Uncertain 1_94639337_A->G 1 94639337 94639337 A G snp 2148.77 1/1 99 75 0 75 1.0 UTR3 rs1330858 ARHGAP29 AU 0.972045 1 Uncertain 1_94639447_C->T 1 94639447 94639447 C T snp 7496.77 1/1 99 250 0 250 1.0 exonic rs1999272 ARHGAP29 AU nonsynonymous SNV NM_004815 exon23 c.G3764A p.G1255D 0.94389 1 0.944180 0.9849 1 0.38 T 1.0 P -0.947 T 0.0 T 0.0 T Pathogenic 1_94649558_T->C 1 94649558 94649558 T C snp 56.74 1/1 6 2 0 2 1.0 intronic ARHGAP29 AU NM_004815 exon5 c.10282-148T>C Uncertain 1_94667430_-->A 1 94667430 94667430 - A indel 190.75 1/1 24 11 0 11 1.0 intronic rs397722381 ARHGAP29 AU NM_004815 exon12 c.27989+17insA 0.936502 0.995 0.9523 0.9780 Uncertain 1_94667970_T->C 1 94667970 94667970 T C snp 1012.77 0/1 99 88 46 42 0.48 intronic rs1541098 ARHGAP29 AU NM_004815 exon13 c.28675-129T>C 0.17492 0.3105 Uncertain 1_94668046_C->T 1 94668046 94668046 C T snp 5844.77 1/1 99 204 0 204 1.0 intronic rs1541099 ARHGAP29 AU NM_004815 exon13 c.28675-53C>T 0.931709 0.999 0.9834 0.9998 Uncertain 1_94670784_T->C 1 94670784 94670784 T C snp 517.77 0/1 99 40 20 20 0.5 intronic rs10443184 ARHGAP29 AU NM_004815 exon17 c.31330+30T>C 0.349441 0.4028 0.307444 0.3773 0.4138 Uncertain 1_94674723_G->A 1 94674723 94674723 G A snp 1126.77 1/1 81 40 0 40 1.0 intronic rs6684237 ARHGAP29 AU NM_004815 exon20 c.35385-86G>A 0.972045 1 Uncertain 1_94674726_T->C 1 94674726 94674726 T C snp 441.77 0/1 99 42 22 20 0.48 intronic rs2274788 ARHGAP29 AU NM_004815 exon20 c.35385-83T>C 0.183906 0.3135 Uncertain 1_94883977_-->GCC 1 94883977 94883977 - GCC indel 978.73 0/1 99 50 25 25 0.5 UTR5 rs28365841 ABCD3 AR Uncertain 1_94921128_A->G 1 94921128 94921128 A G snp 228.84 0/1 18 8 1 7 0.88 intronic rs61772854 ABCD3 AR NM_002858 exon2 c.40128-3034A>G 0.275559 0.2024 Uncertain 1_94930345_G->A 1 94930345 94930345 G A snp 1228.77 0/1 99 116 58 58 0.5 exonic rs16946 ABCD3 AR synonymous SNV NM_002858 exon3 c.G162A p.K54K 0.279952 0.1994 0.372213 0.3923 0.2093 Uncertain 1_94980671_C->G 1 94980671 94980671 C G snp 3119.77 1/1 99 125 0 125 1.0 intronic rs3118109 ABCD3 AR NM_002858 exon22 c.96667-30C>G 0.983626 1 0.984459 0.9957 1 Uncertain 1_94998559_A->G 1 94998559 94998559 A G snp 83.77 0/1 61 5 2 3 0.6 intronic rs610277 F3 AU NM_001993 exon3 c.2630-86A>G 0.0389377 0.1032 Uncertain 1_95001600_A->C 1 95001600 95001600 A C snp 1989.77 1/1 99 78 0 78 1.0 exonic rs698946 F3 AU synonymous SNV NM_001993 exon3 c.T333G p.P111P 0.982628 1 0.983700 0.9950 1 Uncertain 1_95211285_C->T 1 95211285 95211285 C T snp 433.77 0/1 99 33 19 14 0.42 ncRNA_intronic rs6541364 LINC01057 AU 0.32488 0.3413 Uncertain 1_95211525_G->A 1 95211525 95211525 G A snp 2308.77 1/1 99 80 0 80 1.0 ncRNA_intronic rs1333953 LINC01057 AU 0.713458 0.6111 Uncertain 1_95285887_C->G 1 95285887 95285887 C G snp 49.77 0/1 31 4 1 3 0.75 upstream rs187254725 LINC01057 AU 0.0986422 0.0317 Uncertain 1_95286094_G->T 1 95286094 95286094 G T snp 1347.77 1/1 96 55 0 55 1.0 intronic rs10782992 SLC44A3 AU NM_001258342 exon1 c.27+60G>T 0.954673 0.9921 Uncertain 1_95286658_C->A 1 95286658 95286658 C A snp 1798.77 1/1 99 63 0 63 1.0 intronic rs6676991 SLC44A3 AU NM_001258341 exon2 c.605+46C>A 0.556909 0.3938 0.586509 0.6260 0.4065 Uncertain 1_95286676_TCCCAAATGTAAA->- 1 95286676 95286688 TCCCAAATGTAAA - indel 6697.73 1/1 99 49 0 49 1.0 intronic rs11274910 SLC44A3 AU NM_001258341 exon2 c.605+64_605+76delTCCCAAATGTAAA 0.556709 0.3938 Uncertain 1_95290003_C->T 1 95290003 95290003 C T snp 1323.77 1/1 96 42 0 42 1.0 intronic rs6687749 SLC44A3 AU NM_001258342 exon2 c.4041-45C>T 0.557109 0.3929 0.598336 0.6009 0.4160 Uncertain 1_95290305_T->C 1 95290305 95290305 T C snp 223.84 1/1 18 8 0 8 1.0 intronic rs6541372 SLC44A3 AU NM_001258342 exon2 c.4184+114T>C 0.951877 0.9921 Uncertain 1_95291366_A->G 1 95291366 95291366 A G snp 1430.77 1/1 99 45 0 45 1.0 intronic rs10874894 SLC44A3 AU NM_001258342 exon2 c.4184+1175A>G 0.949481 0.9921 0.9937 0.9848 Uncertain 1_95291479_A->C 1 95291479 95291479 A C snp 1104.77 0/1 99 120 69 51 0.42 intronic rs12057188 SLC44A3 AU NM_001258342 exon2 c.4184+1288A>C 0.152556 0.0317 0.1747 0.0682 Uncertain 1_95293005_A->G 1 95293005 95293005 A G snp 2839.77 0/1 99 216 101 115 0.53 intronic rs17407097 SLC44A3 AU NM_001258342 exon3 c.7055-57A>G 0.0934505 0.0317 Uncertain 1_95294089_T->C 1 95294089 95294089 T C snp 1106.77 0/1 99 109 62 47 0.43 exonic rs2640065 SLC44A3 AU synonymous SNV NM_001258342 exon4 c.T348C p.Y116Y 0.202077 0.1012 0.219822 0.2059 0.1212 Uncertain 1_95305440_A->G 1 95305440 95305440 A G snp 2937.77 0/1 99 250 129 121 0.48 intronic rs859120 SLC44A3 AU NM_001258342 exon6 c.19496-63A>G 0.566693 0.7044 Uncertain 1_95330372_G->A 1 95330372 95330372 G A snp 4024.77 1/1 99 150 0 150 1.0 exonic rs859098 SLC44A3 AU nonsynonymous SNV NM_001258342 exon10 c.G1204A p.V402I 0.754593 0.9831 0.679686 0.7701 0.9812 0.09 T 0.0 P -1.103 T 0.848 T 0.366 P Pathogenic 1_95332814_C->T 1 95332814 95332814 C T snp 1074.77 1/1 78 35 0 35 1.0 intronic rs74104711 SLC44A3 AU NM_001258342 exon11 c.46879-72C>T 0.243411 0.2192 Uncertain 1_95333195_G->A 1 95333195 95333195 G A snp 218.84 1/1 18 6 0 6 1.0 intronic rs859095 SLC44A3 AU NM_001258342 exon11 c.46966+222G>A 0.979832 0.9692 Uncertain 1_95358096_A->G 1 95358096 95358096 A G snp 2187.77 1/1 99 78 0 78 1.0 intronic rs859063 SLC44A3 AU NM_001258342 exon13 c.72066+23A>G 0.452676 0.4157 0.522144 0.5409 0.4464 Uncertain 1_95367109_CC->- 1 95367109 95367110 CC - indel 168.87 1/1 15 5 0 5 1.0 intronic rs10605235 CNN3 AU NM_001286055 exon3 c.3927-115_3927-114delCC 0.432907 0.4236 Uncertain 1_95367136_G->A 1 95367136 95367136 G A snp 435.77 1/1 33 14 0 14 1.0 intronic rs859059 CNN3 AU NM_001286055 exon3 c.3927-88G>A 0.991613 1 Uncertain 1_95367649_T->C 1 95367649 95367649 T C snp 2469.77 1/1 99 88 0 88 1.0 intronic rs859058 CNN3 AU NM_001839 exon4 c.4379-27T>C 0.441094 0.4196 0.510072 0.5402 0.4573 Uncertain 1_95367894_A->C 1 95367894 95367894 A C snp 1025.77 1/1 75 33 0 33 1.0 intronic rs859057 CNN3 AU NM_001839 exon4 c.4517+80A>C 0.71905 0.5694 Uncertain 1_95369198_G->C 1 95369198 95369198 G C snp 2745.77 1/1 99 89 0 89 1.0 intronic rs11165268 CNN3 AU NM_001286055 exon5 c.5783+118G>C 0.0856629 0.1389 Uncertain 1_95369211_T->G 1 95369211 95369211 T G snp 2300.77 1/1 99 72 0 72 1.0 intronic rs859054 CNN3 AU NM_001286055 exon5 c.5783+131T>G 0.851837 0.9435 Uncertain 1_95427042_T->- 1 95427042 95427042 T - indel 837.73 1/1 99 44 0 44 1.0 ncRNA_intronic rs3831103 LOC729970 AU 0.564696 0.7679 Uncertain 1_95428414_G->A 1 95428414 95428414 G A snp 892.77 1/1 66 26 0 26 1.0 ncRNA_intronic rs2766005 LOC729970 AU 0.626797 0.875 Uncertain 1_95428455_-->T 1 95428455 95428455 - T indel 215.73 0/1 99 48 10 38 0.79 ncRNA_intronic rs397976783 LOC729970 AU 0.346645 0.4206 0.3564 0.42 Uncertain 1_95614215_G->A 1 95614215 95614215 G A snp 343.77 0/1 99 52 34 18 0.35 intronic rs76921353 TMEM56 AU NM_001199679 exon3 c.4800-42G>A 0.128395 0.0694 0.159745 0.1604 0.0642 Uncertain 1_95615678_T->C 1 95615678 95615678 T C snp 110.78 0/1 27 6 1 5 0.83 intronic rs76086699 TMEM56 AU NM_001199679 exon4 c.6306-85T>C 0.128395 0.0694 Uncertain 1_95615888_T->C 1 95615888 95615888 T C snp 242.77 0/1 99 19 6 13 0.68 intronic rs35206271 TMEM56 AU NM_001199679 exon4 c.6365+66T>C 0.128594 0.0694 0.159877 Uncertain 1_95696612_C->T 1 95696612 95696612 C T snp 1158.77 0/1 99 98 51 47 0.48 ncRNA_intronic rs6663164 LOC101928118 AU 0.339058 0.4573 Uncertain 1_95705615_G->A 1 95705615 95705615 G A snp 2051.77 1/1 99 73 0 73 1.0 intronic rs640527 RWDD3 AU NM_001278247 exon2 c.40+150G>A 0.927316 1 Uncertain 1_95709821_T->C 1 95709821 95709821 T C snp 5419.77 1/1 99 202 0 202 1.0 exonic rs259358 RWDD3 AU nonsynonymous SNV NM_001128142 exon2 c.T140C p.V47A 0.984625 1 0.985995 0.9955 1 0.79 T 0.0 P -0.978 T 0.001 T 0.002 T Pathogenic 1_95709939_T->G 1 95709939 95709939 T G snp 5362.77 1/1 99 177 0 177 1.0 exonic rs2296308 RWDD3 AU nonsynonymous SNV NM_001128142 exon2 c.T258G p.N86K 0.817292 0.8036 0.820053 0.8548 0.7729 1 T 0.0 P -0.999 T 0.0 T 0.0 T Pathogenic 1_97189091_G->A 1 97189091 97189091 G A snp 753.77 0/1 99 96 57 39 0.41 intronic rs3762411 PTBP2 AU NM_001300988 exon2 c.1699-28G>A 0.631789 0.6339 0.592419 0.5503 0.6471 Uncertain 1_97272456_A->G 1 97272456 97272456 A G snp 1887.77 0/1 99 152 69 83 0.55 exonic rs6699932 PTBP2 AU synonymous SNV NM_001300990 exon10 c.A957G p.L319L 0.277955 0.2103 0.292019 0.2123 0.2116 Uncertain 1_97278804_G->A 1 97278804 97278804 G A snp 574.77 0/1 99 63 40 23 0.37 intronic rs273886 PTBP2 AU NM_001300985 exon14 c.91408-24G>A 0.63099 0.6339 0.590748 0.5499 0.6466 Uncertain 1_97544771_T->C 1 97544771 97544771 T C snp 258.8 1/1 21 7 0 7 1.0 intronic rs290855 DPYD AR NM_000110 exon1 c.171+69T>C 0.835863 0.995 Uncertain 1_97547831_G->A 1 97547831 97547831 G A snp 3184.79 1/1 99 106 0 106 1.0 intronic rs290854 DPYD AR NM_000110 exon2 c.3354-54G>A 1 1 Uncertain 1_97771947_C->A 1 97771947 97771947 C A snp 386.77 0/1 99 46 30 16 0.35 ncRNA_intronic rs7556439 DPYD-AS1 AU 0.254393 0.3145 Uncertain 1_97839016_A->G 1 97839016 97839016 A G snp 384.77 0/1 99 40 22 18 0.45 intronic rs1890138 DPYD AR NM_000110 exon8 c.294585-100A>G 0.318291 0.3948 Uncertain 1_97915624_A->G 1 97915624 97915624 A G snp 2153.77 0/1 99 216 122 94 0.44 exonic rs17376848 DPYD AR synonymous SNV NM_000110 exon14 c.T1896C p.F632F 0.0521166 0.1141 0.036752 0.0468 0.1263 CLINSIG=untested;CLNDBN=not_provided;CLNREVSTAT=no_assertion_provided;CLNACC=RCV000086470.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Uncertain 1_97981242_T->C 1 97981242 97981242 T C snp 518.77 1/1 39 15 0 15 1.0 intronic rs2811178 DPYD AR NM_000110 exon11 c.436750-39T>C 0.651757 0.7341 0.599041 0.6609 0.7674 CLINSIG=untested;CLNDBN=not_provided;CLNREVSTAT=no_assertion_provided;CLNACC=RCV000086472.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Uncertain 1_98348885_G->A 1 98348885 98348885 G A snp 3212.77 1/1 99 128 0 128 1.0 exonic rs1801265 DPYD AR nonsynonymous SNV NM_000110 exon2 c.C85T p.R29C 0.739816 0.9137 0.715900 0.7652 0.9258 0.18 T 1.000 P -0.126 T 0.964 D 0.663 D CLINSIG=pathogenic,untested;CLNDBN=Dihydropyrimidine_dehydrogenase_deficiency,not_provided;CLNREVSTAT=no_assertion_criteria_provided,no_assertion_provided;CLNACC=RCV000000464.1,RCV000086506.1;CLNDSDB=MedGen:OMIM,MedGen;CLNDSDBID=C2720286:274270,CN221809 ID=CM970421;DIS=Dihydropyrimidine dehydrogenase deficiency;TAG=DM?;PUB=9266349 DM? Pathogenic 1_98349390_-->A 1 98349390 98349390 - A indel 578.73 1/1 71 30 0 30 1.0 intronic rs111231337 DPYD AR NM_000110 exon22 c.804399+460insA 0.86222 0.9147 0.6648 0.6912 Uncertain 1_99127205_A->G 1 99127205 99127205 A G snp 266.8 1/1 21 9 0 9 1.0 upstream rs12723363 SNX7 AU 0.865216 0.8948 Uncertain 1_99127392_T->C 1 99127392 99127392 T C snp 1045.77 1/1 75 39 0 39 1.0 exonic rs9728148 SNX7 AU synonymous SNV NM_015976 exon1 c.T105C p.S35S 0.995407 1 0.9979 1 Uncertain 1_99150635_G->A 1 99150635 99150635 G A snp 1823.77 1/1 99 74 0 74 1.0 intronic rs9433747 SNX7 AU NM_015976 exon2 c.23336+12G>A 0.858427 0.8958 0.869518 0.9330 0.9047 Uncertain 1_99156634_T->A 1 99156634 99156634 T A snp 241.77 0/1 99 42 30 12 0.29 exonic rs35296149 SNX7 AU nonsynonymous SNV NM_015976 exon3 c.T367A p.S123T 0.0904553 0.3264 0.013071 0.0557 0.3566 1 T 0.996 P -0.956 T 0.027 T 0.033 T Pathogenic 1_99225627_G->A 1 99225627 99225627 G A snp 3669.77 1/1 99 141 1 140 0.99 exonic rs2019213 SNX7 AU synonymous SNV NM_152238 exon8 c.G1131A p.E377E 0.875399 0.6657 0.957789 0.9378 0.6455 Uncertain 1_99387628_-->A 1 99387628 99387628 - A indel 1304.73 0/1 99 121 53 68 0.56 intronic rs34854879 LPPR5 AU NM_001037317 exon3 c.28987+14insA 0.69349 0.7996 0.727360 0.7320 0.7868 Uncertain 1_99418647_G->C 1 99418647 99418647 G C snp 871.77 0/1 99 66 33 33 0.5 exonic rs309087 LPPR5 AU synonymous SNV NM_001010861 exon3 c.C600G p.V200V 0.223043 0.2351 0.206213 0.1952 0.2305 Uncertain 1_99418948_-->GTGTGTGA 1 99418948 99418948 - GTGTGTGA indel 1919.73 ./1 99 27 0 27 1.0 intronic LPPR5 AU NM_001037317 exon4 c.60249+72insGTGTGTGA Uncertain 1_99418948_-->GTGTGA 1 99418948 99418948 - GTGTGA indel 1919.73 ./1 99 27 0 27 1.0 intronic rs377156706 LPPR5 AU NM_001037317 exon4 c.60249+72insGTGTGA 0.641973 0.9097 Uncertain 1_99470269_T->C 1 99470269 99470269 T C snp 2524.77 0/1 99 174 70 104 0.6 ncRNA_intronic rs12057990 LOC100129620 AU 0.255591 0.4365 0.148844 0.2653 0.4103 Uncertain 1_99753631_G->A 1 99753631 99753631 G A snp 2274.77 0/1 99 206 107 99 0.48 exonic rs35121076 LPPR4 AU synonymous SNV NM_001166252 exon2 c.G333A p.P111P 0.0750799 0.128 0.038213 0.0538 0.1332 Uncertain 1_100133077_G->A 1 100133077 100133077 G A snp 141.77 0/1 99 11 6 5 0.45 intronic rs575074793 PALMD AU NM_017734 exon3 c.21324-120G>A 0.000599042 0.003 Uncertain 1_100152443_T->C 1 100152443 100152443 T C snp 1740.77 1/1 99 62 0 62 1.0 intronic rs1338576 PALMD AU NM_017734 exon5 c.40612-42T>C 0.44369 0.4722 0.507763 0.5201 0.4874 Uncertain 1_100182884_C->T 1 100182884 100182884 C T snp 2136.77 1/1 99 67 0 67 1.0 intronic rs6696586 FRRS1 AU NM_001013660 exon7 c.8512-81C>T 0.407548 0.3423 Uncertain 1_100185282_G->T 1 100185282 100185282 G T snp 738.77 1/1 54 25 0 25 1.0 intronic rs6679013 FRRS1 AU NM_001013660 exon8 c.10750+79G>T 0.403554 0.3363 Uncertain 1_100194305_C->G 1 100194305 100194305 C G snp 3026.77 1/1 99 104 0 104 1.0 intronic rs7522921 FRRS1 AU NM_001013660 exon9 c.19743+109C>G 0.57528 0.4345 Uncertain 1_100195477_A->G 1 100195477 100195477 A G snp 48.74 1/1 6 2 0 2 1.0 intronic rs12145556 FRRS1 AU NM_001013660 exon10 c.20851+173A>G 0.574281 0.4355 Uncertain 1_100203571_A->G 1 100203571 100203571 A G snp 935.77 0/1 99 86 47 39 0.45 intronic rs7548709 FRRS1 AU NM_001013660 exon11 c.29188-70A>G 0.558307 0.3909 Uncertain 1_100203597_G->A 1 100203597 100203597 G A snp 1249.77 0/1 99 108 58 50 0.46 intronic rs7513916 FRRS1 AU NM_001013660 exon11 c.29188-44G>A 0.558307 0.3909 0.506997 0.4185 0.3895 Uncertain 1_100203648_C->T 1 100203648 100203648 C T snp 1891.77 0/1 99 159 79 80 0.5 exonic rs7537296 FRRS1 AU synonymous SNV NM_001013660 exon7 c.G753A p.Q251Q 0.558307 0.3909 0.507074 0.4233 0.3900 Uncertain 1_100203693_G->A 1 100203693 100203693 G A snp 2049.77 0/1 99 169 77 92 0.54 exonic rs7514021 FRRS1 AU synonymous SNV NM_001013660 exon7 c.C708T p.S236S 0.558307 0.3909 0.507074 0.4219 0.3905 Uncertain 1_100214391_T->A 1 100214391 100214391 T A snp 83.77 0/1 63 6 2 4 0.67 intronic rs1416237 FRRS1 AU NM_001013660 exon16 c.39999-61T>A 0.558706 0.3909 Uncertain 1_100598866_G->A 1 100598866 100598866 G A snp 3921.77 1/1 99 137 1 136 0.99 exonic rs472498 TRMT13 AU nonsynonymous SNV NM_019083 exon1 c.G142A p.A48T 0.75639 0.9286 0.713748 0.8402 0.9562 0.53 T 0.072 P -1.080 T 0.196 T 0.04 T Pathogenic 1_100598867_C->T 1 100598867 100598867 C T snp 3792.77 1/1 99 133 0 133 1.0 exonic rs687513 TRMT13 AU nonsynonymous SNV NM_019083 exon1 c.C143T p.A48V 0.75639 0.9286 0.713286 0.8403 0.9562 0.31 T 0.175 P -1.073 T 0.327 T 0.055 T Pathogenic 1_100617887_C->T 1 100617887 100617887 C T snp 2190.77 1/1 99 77 0 77 1.0 intronic rs2784177 LRRC39 AU NM_144620 exon2 c.3343-53C>T 0.902756 0.9474 Uncertain 1_100662016_G->A 1 100662016 100662016 G A snp 31.79 0/1 23 3 1 2 0.67 intronic rs778926561 DBT AR NM_001918 exon1 c.168+38G>A 0.0004 0 Uncertain 1_100672060_T->C 1 100672060 100672060 T C snp 4189.77 1/1 99 157 0 157 1.0 exonic rs12021720 DBT AR nonsynonymous SNV NM_001918 exon9 c.A1150G p.S384G 0.891773 0.9494 0.859219 0.9138 0.9703 1 T 0.001 P -1.012 T 0.0 T 0.0 T CLINSIG=pathogenic;CLNDBN=Intermediate_maple_syrup_urine_disease_type_2;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000012727.21;CLNDSDB=MedGen;CLNDSDBID=CN069615 ID=CM983430;DIS=Maple syrup urine disease;TAG=DM?;PUB=9621512 DM? Pathogenic 1_100715454_G->A 1 100715454 100715454 G A snp 4642.77 1/1 99 160 0 160 1.0 upstream rs3806235 DBT AR 0.72504 0.9216 Uncertain 1_100733207_-->T 1 100733207 100733207 - T indel 1151.73 1/1 77 114 5 109 0.96 intronic rs397742472 RTCA AU NM_001130841 exon3 c.1163+113insT 0.741014 0.8423 Uncertain 1_100733552_T->C 1 100733552 100733552 T C snp 1471.77 1/1 99 42 0 42 1.0 intronic rs4298755 RTCA AU NM_003729 exon3 c.1776-155T>C 0.770168 0.9216 Uncertain 1_100735903_A->G 1 100735903 100735903 A G snp 52.74 1/1 6 2 0 2 1.0 intronic rs4579779 RTCA AU NM_003729 exon4 c.4181-209A>G 0.72524 0.9216 Uncertain 1_100742670_A->G 1 100742670 100742670 A G snp 413.77 1/1 33 11 0 11 1.0 intronic rs4495726 RTCA AU NM_003729 exon8 c.10882-143A>G 0.770168 0.9216 Uncertain 1_100743078_A->G 1 100743078 100743078 A G snp 194.84 1/1 18 6 0 6 1.0 intronic rs4433415 RTCA AU NM_003729 exon8 c.10941+206A>G 0.770168 0.9216 Uncertain 1_100750734_GTTTT->- 1 100750734 100750738 GTTTT - indel 4525.73 1/1 99 66 0 66 1.0 intronic rs397803798 RTCA AU NM_003729 exon9 c.18852-49_18852-45delGTTTT 0.8444 0.9605 Uncertain 1_100817530_GT->- 1 100817530 100817531 GT - indel 203.19 1/1 4 12 1 11 0.92 upstream rs35169146 CDC14A AR 0.451278 0.504 Uncertain 1_100818464_T->C 1 100818464 100818464 T C snp 1645.77 1/1 99 62 0 62 1.0 UTR5 rs594529 CDC14A AR 0.983427 0.9812 0.984469 0.9785 0.9829 Uncertain 1_100818728_T->G 1 100818728 100818728 T G snp 68.77 0/1 97 7 4 3 0.43 intronic rs17420882 CDC14A AR NM_033312 exon1 c.49+169T>G 0.23123 0.3214 Uncertain 1_100908324_A->G 1 100908324 100908324 A G snp 249.8 1/1 21 8 0 8 1.0 intronic rs584350 CDC14A AR NM_033312 exon7 c.89979-165A>G 0.71246 0.6855 Uncertain 1_100961419_A->G 1 100961419 100961419 A G snp 141.03 1/1 12 4 0 4 1.0 intronic rs2270692 CDC14A AR NM_033312 exon13 c.143047-138A>G 0.908746 0.9137 Uncertain 1_100961780_TT->- 1 100961780 100961781 TT - indel 375.94 1/1 13 33 1 32 0.97 intronic rs149672640 CDC14A AR NM_033312 exon13 c.143095+175_143095+176delTT 0.906749 0.9127 Uncertain 1_100963480_AG->- 1 100963480 100963481 AG - indel 266.8 1/1 18 6 0 6 1.0 intronic rs35904273 CDC14A AR NM_033312 exon14 c.145130-160_145130-159delAG 0.328275 0.4663 Uncertain 1_100970346_T->C 1 100970346 100970346 T C snp 1979.77 0/1 99 205 116 89 0.43 intronic rs10875295 CDC14A AR NM_033312 exon15 c.146511+5325T>C 0.49361 0.5079 0.4396 0.4798 Uncertain 1_101005090_G->A 1 101005090 101005090 G A snp 3125.77 1/1 99 111 0 111 1.0 exonic rs2809819 GPR88 AR nonsynonymous SNV NM_022049 exon2 c.G568A p.V190I 0.483227 0.6915 0.359383 0.5986 0.8064 0.54 T 0.0 P -1.084 T 0.0 T 0.001 T Pathogenic 1_101189027_C->G 1 101189027 101189027 C G snp 54.74 1/1 6 2 0 2 1.0 intronic rs1476408 VCAM1 AU NM_001078 exon3 c.3480+131C>G 0.984425 1 Uncertain 1_101190173_C->T 1 101190173 101190173 C T snp 1785.77 0/1 99 165 87 78 0.47 intronic rs2392221 VCAM1 AU NM_001078 exon4 c.4763-6C>T 0.140176 0.1339 0.125192 0.1604 0.1433 Uncertain 1_101199979_A->G 1 101199979 101199979 A G snp 218.84 1/1 18 6 0 6 1.0 intronic rs3176875 VCAM1 AU NM_001078 exon8 c.14641-78A>G 0.914137 0.8532 Uncertain 1_101203827_G->A 1 101203827 101203827 G A snp 1700.77 1/1 99 64 0 64 1.0 exonic rs3176879 VCAM1 AU synonymous SNV NM_001078 exon9 c.G2208A p.K736K 0.871206 0.8512 0.884574 0.9374 0.8306 Uncertain 1_101343626_C->A 1 101343626 101343626 C A snp 80.77 0/1 67 5 2 3 0.6 intronic rs79654648 EXTL2 AU NM_001261440 exon3 c.3962+167C>A 0.0091853 0.0446 Uncertain 1_101372607_C->A 1 101372607 101372607 C A snp 429.77 1/1 33 14 0 14 1.0 intronic rs4908106 SLC30A7 AU NM_001144884 exon3 c.10703+86C>A 0.997604 1 Uncertain 1_101476712_G->C 1 101476712 101476712 G C snp 160.77 0/1 66 11 3 8 0.73 intronic rs11166536 DPH5 AU NM_015958 exon5 c.23302-2553G>C 0.104233 0.1815 Uncertain 1_101704496_T->C 1 101704496 101704496 T C snp 100.77 0/1 99 16 11 5 0.31 UTR5 rs3737578 S1PR1 AU 0.109425 0.2659 0.069152 0.0973 0.2871 Uncertain 1_102271774_G->A 1 102271774 102271774 G A snp 5868.77 1/1 99 212 0 212 1.0 intronic rs4907955 OLFM3 AU NM_058170 exon2 c.1945+36G>A 0.524361 0.6478 0.575131 0.5577 0.6547 Uncertain 1_102462447_TCAGT->- 1 102462447 102462451 TCAGT - indel 3567.73 0/1 99 123 69 54 0.44 UTR5 rs11276972 OLFM3 AU 0.27476 0.2192 Uncertain 1_103352451_A->G 1 103352451 103352451 A G snp 2849.77 0/1 99 217 100 117 0.54 exonic rs2229783 COL11A1 AR,AD,AU synonymous SNV NM_001854 exon63 c.T4770C p.I1590I 0.484625 0.6647 0.448408 0.5801 0.6445 Uncertain 1_103353933_G->T 1 103353933 103353933 G T snp 46.77 0/1 33 3 1 2 0.67 intronic rs11164633 COL11A1 AR,AD,AU NM_001854 exon6 c.10558-199G>T 0.484425 0.6647 Uncertain 1_103353934_C->T 1 103353934 103353934 C T snp 46.77 0/1 33 3 1 2 0.67 intronic rs2615980 COL11A1 AR,AD,AU NM_001854 exon6 c.10558-198C>T 0.582867 0.7302 Uncertain 1_103354115_T->C 1 103354115 103354115 T C snp 1398.77 0/1 99 113 48 65 0.58 intronic rs17127203 COL11A1 AR,AD,AU NM_001854 exon6 c.10558-17T>C 0.173522 0.245 0.128402 0.1354 0.2698 Uncertain 1_103354138_A->G 1 103354138 103354138 A G snp 1309.77 0/1 99 130 73 57 0.44 exonic rs1676486 COL11A1 AR,AD,AU nonsynonymous SNV NM_001854 exon62 c.T4603C p.S1535P 0.782947 0.748 0.807012 0.7942 0.7304 1 T 0.399 P -0.805 T 0.0 T 0.0 T CLINSIG=other;CLNDBN=Lumbar_disc_herniation\x2c_susceptibility_to;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000018675.4;CLNDSDB=MedGen;CLNDSDBID=C2676840 ID=CM074756;DIS=Lumbar disc herniation, association with;TAG=DFP;PUB=17999364 DFP Pathogenic 1_103354428_A->G 1 103354428 103354428 A G snp 893.77 0/1 99 67 27 40 0.6 exonic rs1763347 COL11A1 AR,AD,AU synonymous SNV NM_001854 exon60 c.T4512C p.G1504G 0.622604 0.746 0.622943 0.7239 0.7251 Uncertain 1_103356107_A->G 1 103356107 103356107 A G snp 333.77 0/1 99 28 16 12 0.43 intronic rs11164634 COL11A1 AR,AD,AU NM_001854 exon10 c.12486+47A>G 0.173722 0.247 0.123280 0.1396 0.2819 Uncertain 1_103356168_A->C 1 103356168 103356168 A C snp 144.77 0/1 99 12 7 5 0.42 intronic rs1085 COL11A1 AR,AD,AU NM_001854 exon10 c.12486+108A>C 0.626797 0.746 Uncertain 1_103379918_G->A 1 103379918 103379918 G A snp 590.77 0/1 99 58 28 30 0.52 exonic rs3753841 COL11A1 AR,AD,AU nonsynonymous SNV NM_001854 exon52 c.C3968T p.P1323L 0.496605 0.7034 0.451715 0.5916 0.6892 0.09 T 1.000 P 0.969 D 0.935 T 0.715 D Pathogenic 1_103380379_-->A 1 103380379 103380379 - A indel 322.73 1/1 45 17 0 17 1.0 intronic rs34228277 COL11A1 AR,AD,AU NM_001854 exon17 c.36793+12insA 0.459265 0.5675 0.5085 0.5981 Uncertain 1_103381129_C->T 1 103381129 103381129 C T snp 1705.77 0/1 99 158 84 74 0.47 intronic rs4908273 COL11A1 AR,AD,AU NM_001854 exon18 c.37612-57C>T 0.151957 0.2123 0.116294 Uncertain 1_103400491_G->A 1 103400491 103400491 G A snp 829.77 1/1 60 26 0 26 1.0 intronic rs11164641 COL11A1 AR,AD,AU NM_001854 exon23 c.57041-124G>A 0.777556 0.9931 Uncertain 1_103400492_A->T 1 103400492 103400492 A T snp 855.77 1/1 63 27 0 27 1.0 intronic rs11164642 COL11A1 AR,AD,AU NM_001854 exon23 c.57041-123A>T 0.777556 0.9931 Uncertain 1_103428389_G->A 1 103428389 103428389 G A snp 1189.77 1/1 87 37 0 37 1.0 intronic rs1841834 COL11A1 AR,AD,AU NM_001854 exon29 c.84742+73G>A 0.948682 1 Uncertain 1_103435626_G->A 1 103435626 103435626 G A snp 206.84 1/1 18 7 0 7 1.0 intronic rs2061710 COL11A1 AR,AD,AU NM_001854 exon31 c.92200-148G>A 0.932708 1 Uncertain 1_103444679_T->G 1 103444679 103444679 T G snp 4191.77 1/1 99 162 0 162 1.0 intronic rs11164649 COL11A1 AR,AD,AU NM_001854 exon35 c.101086+19T>G 0.629193 0.9127 0.551668 0.6912 0.9116 Uncertain 1_103449598_G->C 1 103449598 103449598 G C snp 437.77 1/1 33 15 0 15 1.0 intronic rs2615978 COL11A1 AR,AD,AU NM_001854 exon37 c.106119-95G>C 0.948283 1 Uncertain 1_103455217_C->T 1 103455217 103455217 C T snp 730.77 1/1 54 26 0 26 1.0 intronic rs1463034 COL11A1 AR,AD,AU NM_001854 exon39 c.111553+90C>T 0.807109 0.9325 Uncertain 1_103461508_T->A 1 103461508 103461508 T A snp 1598.77 1/1 99 58 0 58 1.0 intronic rs2622867 COL11A1 AR,AD,AU NM_001854 exon41 c.117970-36T>A 0.923922 1 0.905480 0.9536 1 Uncertain 1_103462473_A->G 1 103462473 103462473 A G snp 471.77 1/1 36 12 0 12 1.0 intronic rs2786125 COL11A1 AR,AD,AU NM_001854 exon42 c.119061-162A>G 0.849441 0.9335 Uncertain 1_103467615_C->T 1 103467615 103467615 C T snp 540.77 1/1 42 17 0 17 1.0 intronic rs2929162 COL11A1 AR,AD,AU NM_001854 exon44 c.123951+90C>T 0.924121 1 Uncertain 1_103468609_A->G 1 103468609 103468609 A G snp 1132.77 1/1 81 39 0 39 1.0 intronic rs2251895 COL11A1 AR,AD,AU NM_001854 exon47 c.125196-161A>G 0.924321 1 Uncertain 1_103470100_A->G 1 103470100 103470100 A G snp 184.77 0/1 99 28 18 10 0.36 intronic rs527396002 COL11A1 AR,AD,AU NM_001854 exon48 c.126470+56A>G 0.000199681 0.001 Uncertain 1_103471457_CAT->- 1 103471457 103471459 CAT - indel 3138.73 1/1 99 77 0 77 1.0 intronic rs112482103 COL11A1 AR,AD,AU NM_001854 exon50 c.127873+10_127873+12delCAT 0.7685 0.9162 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000079905.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 1_103483514_C->T 1 103483514 103483514 C T snp 939.77 1/1 69 35 0 35 1.0 intronic rs945748 COL11A1 AR,AD,AU NM_001854 exon57 c.139864+76C>T 0.638978 0.9117 Uncertain 1_103487395_T->- 1 103487395 103487395 T - indel 929.73 1/1 99 51 0 51 1.0 intronic rs35291481 COL11A1 AR,AD,AU NM_001854 exon59 c.143751+70delT 0.926318 0.9891 Uncertain 1_103496620_G->T 1 103496620 103496620 G T snp 1132.77 1/1 84 40 0 40 1.0 intronic rs7523441 COL11A1 AR,AD,AU NM_001854 exon63 c.153097-51G>T 0.943091 1 0.925358 0.9594 1 Uncertain 1_103496806_A->- 1 103496806 103496806 A - indel 738.73 1/1 88 46 1 45 0.98 splicing rs36076089 COL11A1 AR,AD,AU NM_001854 exon63 c.153226+6delA 0.477436 0.5298 0.6075 0.6401 Pathogenic 1_103548319_C->G 1 103548319 103548319 C G snp 315.78 1/1 24 12 0 12 1.0 intronic rs11164662 COL11A1 AR,AD,AU NM_001854 exon66 c.204786-41C>G 0.576278 0.9058 0.456246 0.5918 0.9109 Uncertain 1_103573547_G->A 1 103573547 103573547 G A snp 1135.77 1/1 84 42 0 42 1.0 intronic rs6691654 COL11A1 AR,AD,AU NM_001854 exon67 c.230054-81G>A 0.871605 0.995 Uncertain 1_104086145_A->G 1 104086145 104086145 A G snp 1617.77 1/1 99 62 0 62 1.0 intronic rs10785725 RNPC3 AU NM_017619 exon9 c.17377+76A>G 0.999201 0.999 Uncertain 1_107946262_G->A 1 107946262 107946262 G A snp 387.77 0/1 99 41 22 19 0.46 intronic rs12126267 NTNG1 AU NM_014917 exon5 c.259088-4041G>A 0.417931 0.4792 0.6667 1 0.0 P -1.062 T Uncertain 1_107946325_A->- 1 107946325 107946325 A - indel 586.73 0/1 99 86 39 47 0.55 intronic NTNG1 AU NM_014917 exon5 c.259088-3978delA 0.293331 0.3224 Uncertain 1_107979396_A->C 1 107979396 107979396 A C snp 3192.79 1/1 99 112 0 112 1.0 intronic rs480392 NTNG1 AU NM_001113226 exon7 c.288206-25A>C 0.95028 1 0.954660 0.9858 1 Uncertain 1_107998296_G->T 1 107998296 107998296 G T snp 799.77 0/1 99 78 43 35 0.45 intronic rs117721859 NTNG1 AU NM_001113226 exon7 c.288206+18875G>T 0.0235623 0.0724 0.005938 0.0227 0.0878 Uncertain 1_108002764_C->A 1 108002764 108002764 C A snp 54.74 1/1 6 2 0 2 1.0 intronic rs488747 NTNG1 AU NM_014917 exon6 c.332017-20468C>A 0.968251 1 Uncertain 1_108185301_C->G 1 108185301 108185301 C G snp 1963.77 1/1 99 72 0 72 1.0 exonic rs12403266 VAV3 AU nonsynonymous SNV NM_006113 exon20 c.G1854C p.Q618H 0.152157 0.2262 0.125481 0.1545 0.2334 0.17 T 1.000 P -1.022 T 0.0 T 0.001 T Pathogenic 1_108185309_G->A 1 108185309 108185309 G A snp 816.77 0/1 99 73 35 38 0.52 exonic rs12410676 VAV3 AU nonsynonymous SNV NM_006113 exon20 c.C1846T p.P616S 0.141973 0.2073 0.105182 0.1360 0.2112 0.21 T 1.000 P -1.061 T 0.138 T 0.055 T Pathogenic 1_108292260_A->G 1 108292260 108292260 A G snp 1516.77 1/1 99 59 0 59 1.0 intronic rs6672483 VAV3 AU NM_006113 exon14 c.176264+44A>G 0.77476 0.9563 0.631291 0.7028 0.9788 Uncertain 1_108299776_TG->- 1 108299776 108299777 TG - indel 307.73 0/1 99 20 8 12 0.6 intronic rs34437461 VAV3 AU NM_006113 exon17 c.183930-106_183930-105delTG Uncertain 1_108299809_G->A 1 108299809 108299809 G A snp 242.77 0/1 99 37 24 13 0.35 intronic rs12138353 VAV3 AU NM_006113 exon17 c.183930-73G>A 0.494609 0.3641 Uncertain 1_108307642_C->T 1 108307642 108307642 C T snp 349.77 0/1 99 23 8 15 0.65 intronic rs7514025 VAV3 AU NM_006113 exon19 c.191745-55C>T 0.688898 0.7302 Uncertain 1_108307727_T->A 1 108307727 108307727 T A snp 1354.77 0/1 99 100 40 60 0.6 exonic rs7528153 VAV3 AU nonsynonymous SNV NM_006113 exon9 c.A892T p.T298S 0.507788 0.3879 0.667615 0.5883 0.3820 0.69 T 0.999 P -1.046 T 0.566 P 0.338 P Pathogenic 1_108313258_C->T 1 108313258 108313258 C T snp 755.77 0/1 99 68 32 36 0.53 exonic rs6583048 VAV3 AU synonymous SNV NM_006113 exon6 c.G648A p.K216K 0.670927 0.6776 0.759695 0.7279 0.6726 1.0 P -0.971 T Likely benign 1_108315305_C->T 1 108315305 108315305 C T snp 1927.77 1/1 99 69 0 69 1.0 intronic rs4611048 VAV3 AU NM_006113 exon23 c.199404-51C>T 0.955471 1 0.961941 Uncertain 1_108690739_G->A 1 108690739 108690739 G A snp 256.77 0/1 99 16 8 8 0.5 intronic rs74505543 SLC25A24 AU NM_213651 exon4 c.11626-161G>A 0.0061901 0.0179 Uncertain 1_108697845_C->G 1 108697845 108697845 C G snp 382.77 0/1 99 18 7 11 0.61 intronic rs7555964 SLC25A24 AU NM_213651 exon5 c.18483+88C>G 0.509185 0.5446 Uncertain 1_108724518_A->G 1 108724518 108724518 A G snp 1365.77 0/1 99 108 49 59 0.55 intronic rs490680 SLC25A24 AU NM_213651 exon8 c.45288-44A>G 0.688299 0.624 0.743310 0.6718 0.6737 Uncertain 1_108724693_G->A 1 108724693 108724693 G A snp 233.77 0/1 99 31 21 10 0.32 intronic rs491785 SLC25A24 AU NM_213651 exon8 c.45376+43G>A 0.688299 0.624 0.745388 0.6709 0.6757 Uncertain 1_108766133_A->G 1 108766133 108766133 A G snp 93.77 0/1 99 13 9 4 0.31 UTR3 rs3870737 NBPF4 AU 0.444089 0.5456 Uncertain 1_108766424_A->G 1 108766424 108766424 A G snp 2260.77 0/1 99 176 83 93 0.53 intronic rs3879436 NBPF4 AU NM_001143989 exon1 c.42+56A>G 0.404553 0.5456 Uncertain 1_108771524_C->T 1 108771524 108771524 C T snp 32.77 0/1 61 47 30 17 0.36 intronic rs61799399 NBPF4 AU NM_001143989 exon3 c.5215-17C>T 0.4131 0.4558 Uncertain 1_108771721_T->C 1 108771721 108771721 T C snp 1278.77 0/1 99 201 131 70 0.35 exonic rs1992354 NBPF4 AU nonsynonymous SNV NM_001143989 exon13 c.A1481G p.Q494R 0.1567 0.1897 0.91 T 1 N -0.976 T 0.0 T 0.0 T Pathogenic 1_109010230_G->A 1 109010230 109010230 G A snp 1443.77 0/1 99 250 173 77 0.31 exonic rs201618980 NBPF6 AU synonymous SNV NM_001143988 exon14 c.G1818A p.P606P 0.0794 0.1656 Uncertain 1_109013458_C->T 1 109013458 109013458 C T snp 132.03 1/1 12 4 0 4 1.0 downstream rs2992768 NBPF6 AU 0.909944 0.9891 Uncertain 1_109103207_G->T 1 109103207 109103207 G T snp 1338.77 0/1 99 110 56 54 0.49 intronic rs72978732 FAM102B AU NM_001010883 exon1 c.137+20G>T 0.266573 0.2569 0.187606 0.1362 0.2578 Uncertain 1_109143457_A->G 1 109143457 109143457 A G snp 194.77 0/1 99 26 18 8 0.31 intronic rs7534348 FAM102B AU NM_001010883 exon2 c.40258+149A>G 0.184904 0.1756 Uncertain 1_109154974_G->A 1 109154974 109154974 G A snp 282.77 0/1 99 31 17 14 0.45 intronic rs2358522 FAM102B AU NM_001010883 exon4 c.51866+58G>A 0.184904 0.1756 Uncertain 1_109170746_C->T 1 109170746 109170746 C T snp 432.77 0/1 99 38 23 15 0.39 intronic rs2133198 FAM102B AU NM_001010883 exon7 c.67738-42C>T 0.746206 0.7599 0.811472 0.8688 0.7677 Uncertain 1_109172593_C->T 1 109172593 109172593 C T snp 96.28 1/1 9 3 0 3 1.0 intronic rs4617435 FAM102B AU NM_001010883 exon10 c.69229+314C>T 0.988219 1 Uncertain 1_109173710_G->A 1 109173710 109173710 G A snp 1531.77 0/1 99 127 63 64 0.5 intronic rs17025410 FAM102B AU NM_001010883 exon10 c.69229+1431G>A 0.134784 0.1756 0.1434 0.1949 Uncertain 1_109255513_G->T 1 109255513 109255513 G T snp 1144.77 0/1 99 122 69 53 0.43 upstream rs3006864 FNDC7 AU 0.863618 0.9018 0.888524 0.9335 0.8891 Uncertain 1_109256135_T->C 1 109256135 109256135 T C snp 610.77 0/1 99 77 45 32 0.42 exonic rs11102279 FNDC7 AU synonymous SNV NM_001144937 exon2 c.T66C p.V22V 0.076877 0.3105 0.003066 0.0157 0.3055 Uncertain 1_109260357_G->A 1 109260357 109260357 G A snp 2001.77 0/1 99 184 95 89 0.48 intronic rs4970804 FNDC7 AU NM_001144937 exon3 c.4843-41G>A 0.585064 0.8185 0.535042 0.6178 0.8311 Uncertain 1_109265029_G->T 1 109265029 109265029 G T snp 772.77 0/1 99 94 61 33 0.35 exonic rs4423040 FNDC7 AU nonsynonymous SNV NM_001144937 exon5 c.G671T p.R224L 0.578674 0.8621 0.505767 0.6062 0.8759 0.2 T 0.0 P -1.026 T 0.0 T 0.0 T Pathogenic 1_109265326_G->C 1 109265326 109265326 G C snp 80.77 0/1 30 4 1 3 0.75 intronic rs4970743 FNDC7 AU NM_001144937 exon5 c.9659+112G>C 0.597244 0.8641 Uncertain 1_109268573_T->C 1 109268573 109268573 T C snp 1567.77 0/1 99 142 76 66 0.46 exonic rs4494160 FNDC7 AU nonsynonymous SNV NM_001144937 exon6 c.T1058C p.V353A 0.592851 0.2341 0.739120 0.6521 0.2349 1 T 0.000 P -0.956 T 0.0 T 0.0 T Pathogenic 1_109270402_G->A 1 109270402 109270402 G A snp 901.77 0/1 99 51 21 30 0.59 intronic rs10494096 FNDC7 AU NM_001144937 exon7 c.14874-27G>A 0.329073 0.1865 0.411425 0.4333 0.1923 Uncertain 1_109273456_A->G 1 109273456 109273456 A G snp 2580.77 0/1 99 249 140 109 0.44 exonic rs4970809 FNDC7 AU synonymous SNV NM_001144937 exon9 c.A1785G p.G595G 0.45028 0.2014 0.550592 0.4934 0.2091 1.0 P -1.060 T Likely benign 1_109273610_G->A 1 109273610 109273610 G A snp 826.77 0/1 99 92 53 39 0.42 intronic rs4970810 FNDC7 AU NM_001144937 exon9 c.17995+60G>A 0.450879 0.1984 Uncertain 1_109289236_C->A 1 109289236 109289236 C A snp 177.77 0/1 99 20 12 8 0.4 upstream rs1124426 STXBP3 AU 0.587061 0.2232 Uncertain 1_109289353_C->G 1 109289353 109289353 C G snp 706.77 0/1 99 78 45 33 0.42 UTR5 rs1124427 STXBP3 AU 0.573083 0.2232 0.772093 0.6849 0.2333 Uncertain 1_109289487_C->T 1 109289487 109289487 C T snp 365.77 0/1 99 38 22 16 0.42 intronic rs6604120 STXBP3 AU NM_007269 exon1 c.49+79C>T 0.572684 0.2232 Uncertain 1_109299453_C->G 1 109299453 109299453 C G snp 150.77 0/1 99 22 13 9 0.41 intronic rs1277044 STXBP3 AU NM_007269 exon4 c.10029+65C>G 0.575679 0.2222 Uncertain 1_109301250_G->C 1 109301250 109301250 G C snp 695.77 0/1 99 58 24 34 0.59 intronic rs1277042 STXBP3 AU NM_007269 exon5 c.11851+40G>C 0.575479 0.2222 0.744199 0.6775 0.2357 Uncertain 1_109321824_G->T 1 109321824 109321824 G T snp 860.77 0/1 99 80 48 32 0.4 intronic rs1759481 STXBP3 AU NM_007269 exon9 c.32548-83G>T 0.576078 0.2232 Uncertain 1_109337572_A->C 1 109337572 109337572 A C snp 253.77 0/1 99 34 23 11 0.32 intronic rs1149158 STXBP3 AU NM_007269 exon13 c.48170+43A>C 0.423123 0.7768 0.245820 0.3593 0.7675 Uncertain 1_109338861_G->C 1 109338861 109338861 G C snp 285.77 0/1 99 36 23 13 0.36 exonic rs1127635 STXBP3 AU synonymous SNV NM_007269 exon14 c.G1116C p.L372L 0.329473 0.1925 0.396202 0.3948 0.2001 Uncertain 1_109342716_A->G 1 109342716 109342716 A G snp 202.77 0/1 99 12 4 8 0.67 intronic rs1277239 STXBP3 AU NM_007269 exon17 c.53482-125A>G 0.415136 0.7768 Uncertain 1_109351501_A->G 1 109351501 109351501 A G snp 534.77 0/1 99 38 16 22 0.58 UTR3 rs1149154 STXBP3 AU 0.407348 0.7768 0.237044 0.3191 0.7698 Uncertain 1_109358755_-->T 1 109358755 109358755 - T indel 2031.73 0/1 99 161 80 81 0.5 UTR3 rs11453763 AKNAD1 AU 0.329473 0.2173 0.391870 0.3987 0.2166 Uncertain 1_109363075_T->C 1 109363075 109363075 T C snp 445.77 0/1 99 47 27 20 0.43 intronic rs1333128 AKNAD1 AU NM_152763 exon3 c.4374-91T>C 0.386382 0.6974 Uncertain 1_109363140_T->C 1 109363140 109363140 T C snp 689.77 0/1 99 69 41 28 0.41 intronic rs1333129 AKNAD1 AU NM_152763 exon3 c.4374-26T>C 0.386182 0.6974 0.245733 0.3106 0.6998 Uncertain 1_109363232_T->C 1 109363232 109363232 T C snp 554.77 0/1 99 52 25 27 0.52 exonic rs1333130 AKNAD1 AU synonymous SNV NM_152763 exon14 c.A2184G p.K728K 0.386382 0.6974 0.245963 0.3105 0.7001 Uncertain 1_109365984_G->T 1 109365984 109365984 G T snp 1141.77 0/1 99 92 40 52 0.57 intronic rs75963324 AKNAD1 AU NM_152763 exon4 c.7199-7G>T 0.00698882 0.0268 0.000461 0.0048 0.0172 1 T 0.999 N Uncertain 1_109365991_C->T 1 109365991 109365991 C T snp 1194.77 0/1 99 95 42 53 0.56 splicing rs78237904 AKNAD1 AU NM_152763 exon4 c.7199C>T 0.00698882 0.0268 0.000461 0.0048 0.0175 0.01 T 0.989 N -1.123 T 0.99 D 0.808 D Pathogenic 1_109372968_T->G 1 109372968 109372968 T G snp 141.03 1/1 12 5 0 5 1.0 intronic rs1277221 AKNAD1 AU NM_152763 exon7 c.14388-212T>G 0.666933 0.8036 Uncertain 1_109377055_C->T 1 109377055 109377055 C T snp 792.77 0/1 99 66 31 35 0.53 intronic rs188844055 AKNAD1 AU NM_152763 exon8 c.18276-13C>T 0.00738818 0.0357 0.000231 0.0032 0.0377 Uncertain 1_109377158_A->- 1 109377158 109377158 A - indel 1642.73 1/1 99 103 5 98 0.95 intronic rs540382671 AKNAD1 AU NM_152763 exon8 c.18358+8delA 0.501198 0.5268 0.7117 0.7083 Uncertain 1_109391486_G->A 1 109391486 109391486 G A snp 1697.77 1/1 99 63 0 63 1.0 intronic rs1149142 AKNAD1 AU NM_152763 exon13 c.32741-47G>A 0.988618 1 0.987767 0.9967 1 Uncertain 1_109395105_C->T 1 109395105 109395105 C T snp 7343.77 1/1 99 250 0 250 1.0 exonic rs1277207 AKNAD1 AU nonsynonymous SNV NM_152763 exon2 c.G182A p.S61N 0.867013 0.9395 0.833231 0.8324 0.9383 0.74 T 0.0 P -0.948 T 0.0 T 0.0 T Pathogenic 1_109486196_A->G 1 109486196 109486196 A G snp 1544.77 0/1 99 152 81 71 0.47 exonic rs338466 CLCC1 AU synonymous SNV NM_001048210 exon6 c.T603C p.T201T 0.538339 0.3958 0.594802 0.5287 0.4057 Uncertain 1_109486241_A->- 1 109486241 109486241 A - indel 1806.73 0/1 99 139 77 62 0.45 splicing rs3215062 CLCC1 AU NM_001048210 exon7 c.8946+4delA 0.483626 0.3948 0.508066 0.4689 0.4038 Pathogenic 1_109490457_T->C 1 109490457 109490457 T C snp 644.77 0/1 99 47 21 26 0.55 intronic rs839543 CLCC1 AU NM_001048210 exon9 c.13049+117T>C 0.526757 0.3958 Uncertain 1_109524584_C->A 1 109524584 109524584 C A snp 307.77 0/1 84 15 3 12 0.8 intronic rs487901 WDR47 AU NM_014969 exon3 c.10435+98C>A 0.185304 0.2163 Uncertain 1_109529322_-->AA 1 109529322 109529322 - AA indel 2210.73 1/1 99 47 0 47 1.0 intronic rs397818205 WDR47 AU NM_014969 exon6 c.15251+20insAA 0.980631 1 0.981458 0.9939 1 Uncertain 1_109545046_C->T 1 109545046 109545046 C T snp 474.77 1/1 36 16 0 16 1.0 intronic rs184606 WDR47 AU NM_014969 exon9 c.30973+22C>T 0.98143 1 0.983338 0.9934 0.9998 Uncertain 1_109618257_C->T 1 109618257 109618257 C T snp 96.28 1/1 9 3 0 3 1.0 intronic rs673365 TAF13 AU NM_005645 exon4 c.11398-285C>T 0.972045 1 Uncertain 1_109618308_G->A 1 109618308 109618308 G A snp 225.77 0/1 99 13 6 7 0.54 intronic rs34069017 TAF13 AU NM_005645 exon4 c.11398-234G>A 0.475839 0.5198 Uncertain 1_109633256_C->G 1 109633256 109633256 C G snp 219.77 0/1 99 20 10 10 0.5 upstream rs521734 TMEM167B AU 0.605831 0.4831 Uncertain 1_109635398_A->G 1 109635398 109635398 A G snp 757.77 0/1 99 63 33 30 0.48 intronic rs512671 TMEM167B AU NM_020141 exon2 c.2017-113A>G 0.472045 0.4683 Uncertain 1_109643380_G->C 1 109643380 109643380 G C snp 114.77 0/1 66 6 2 4 0.67 downstream rs534027 SCARNA2 AU 0.48742 0.4534 Uncertain 1_109648870_C->G 1 109648870 109648870 C G snp 240.77 0/1 99 22 11 11 0.5 intronic rs533212 C1orf194 AU NM_001122961 exon1 c.71+150C>G 0.372804 0.4633 Uncertain 1_109656038_A->G 1 109656038 109656038 A G snp 83.77 0/1 67 6 2 4 0.67 intronic rs6701236 C1orf194 AU NM_001122961 exon5 c.7605-216A>G Uncertain 1_109656420_T->C 1 109656420 109656420 T C snp 43.77 0/1 72 6 3 3 0.5 UTR5 rs536176 C1orf194 AU 0.537141 0.4821 Uncertain 1_109656946_T->C 1 109656946 109656946 T C snp 2170.77 0/1 99 170 81 89 0.52 exonic rs667524 KIAA1324 AU synonymous SNV NM_001267048 exon1 c.T141C p.H47H 0.537141 0.4812 0.465077 0.5048 0.5309 Uncertain 1_109656981_T->C 1 109656981 109656981 T C snp 1939.77 0/1 99 161 79 82 0.51 intronic rs586530 KIAA1324 AU NM_020775 exon1 c.153+23T>C 0.392572 0.4167 0.294708 0.3401 0.4828 Uncertain 1_109704390_C->G 1 109704390 109704390 C G snp 1615.77 1/1 99 47 0 47 1.0 intronic rs643197 KIAA1324 AU NM_020775 exon2 c.47710-125C>G 0.970647 0.999 Uncertain 1_109704618_A->G 1 109704618 109704618 A G snp 3412.77 1/1 99 125 2 123 0.98 exonic rs678238 KIAA1324 AU nonsynonymous SNV NM_001267048 exon2 c.A256G p.I86V 0.995607 0.999 0.995464 0.9987 0.9986 1 T 0.032 P -0.992 T 0.0 T 0.0 T Pathogenic 1_109714750_T->C 1 109714750 109714750 T C snp 170.77 0/1 99 24 16 8 0.33 intronic rs2297758 KIAA1324 AU NM_020775 exon4 c.57830+115T>C 0.522364 0.4901 Uncertain 1_109727475_T->C 1 109727475 109727475 T C snp 455.77 1/1 36 13 0 13 1.0 intronic rs649531 KIAA1324 AU NM_020775 exon8 c.70861-191T>C 0.871406 1 Uncertain 1_109727529_G->A 1 109727529 109727529 G A snp 285.77 0/1 99 31 19 12 0.39 intronic rs12036884 KIAA1324 AU NM_020775 exon8 c.70861-137G>A 0.155152 0.4226 Uncertain 1_109732080_C->T 1 109732080 109732080 C T snp 56.74 1/1 6 2 0 2 1.0 intronic rs603285 KIAA1324 AU NM_020775 exon11 c.75408-133C>T 0.705072 0.998 Uncertain 1_109734157_T->C 1 109734157 109734157 T C snp 1890.77 1/1 99 58 0 58 1.0 intronic rs606066 KIAA1324 AU NM_020775 exon12 c.77288+64T>C 0.764377 0.998 Uncertain 1_109734225_G->T 1 109734225 109734225 G T snp 710.77 1/1 54 21 0 21 1.0 intronic rs643785 KIAA1324 AU NM_020775 exon13 c.77542-122G>T 0.73123 0.998 Uncertain 1_109734541_C->T 1 109734541 109734541 C T snp 1693.77 1/1 99 47 0 47 1.0 intronic rs645128 KIAA1324 AU NM_020775 exon13 c.77680+56C>T 0.872604 0.998 Uncertain 1_109735298_T->C 1 109735298 109735298 T C snp 3577.77 1/1 99 124 0 124 1.0 exonic rs658779 KIAA1324 AU synonymous SNV NM_001284353 exon7 c.T735C p.G245G 0.741613 0.999 0.636475 0.7832 0.9992 Uncertain 1_109735416_A->C 1 109735416 109735416 A C snp 2116.77 1/1 99 79 0 79 1.0 exonic rs659543 KIAA1324 AU nonsynonymous SNV NM_001284353 exon7 c.A853C p.T285P 0.740016 0.998 0.636322 0.7829 0.9975 1 T 0.0 P -0.993 T 0.0 T 0.0 T Pathogenic 1_109735504_T->C 1 109735504 109735504 T C snp 847.77 1/1 63 24 0 24 1.0 intronic rs659659 KIAA1324 AU NM_020775 exon14 c.78691+8T>C 0.741414 0.998 0.636552 0.7835 0.9975 Uncertain 1_109737063_C->T 1 109737063 109737063 C T snp 1706.77 1/1 99 59 0 59 1.0 exonic rs2359246 KIAA1324 AU synonymous SNV NM_001284353 exon8 c.C954T p.N318N 0.713658 0.9702 0.626634 0.7772 0.9731 Uncertain 1_109737090_G->A 1 109737090 109737090 G A snp 2049.77 1/1 99 82 0 82 1.0 exonic rs2359245 KIAA1324 AU synonymous SNV NM_001284353 exon8 c.G981A p.P327P 0.715256 0.9702 0.627403 0.7772 0.9728 Uncertain 1_109737132_T->C 1 109737132 109737132 T C snp 2562.77 1/1 99 93 0 93 1.0 exonic rs2359244 KIAA1324 AU synonymous SNV NM_001284353 exon8 c.T1023C p.T341T 0.766573 0.9702 0.667999 0.7948 0.9731 Uncertain 1_109737172_C->T 1 109737172 109737172 C T snp 2335.77 1/1 99 87 0 87 1.0 exonic rs2359243 KIAA1324 AU synonymous SNV NM_001284353 exon8 c.C1063T p.L355L 0.714058 0.9702 0.626711 0.7772 0.9731 Uncertain 1_109737314_T->C 1 109737314 109737314 T C snp 388.77 1/1 30 12 0 12 1.0 intronic rs2359242 KIAA1324 AU NM_020775 exon15 c.80411+98T>C 0.715855 0.998 Uncertain 1_109737320_G->A 1 109737320 109737320 G A snp 314.78 1/1 24 10 0 10 1.0 intronic rs2359241 KIAA1324 AU NM_020775 exon15 c.80411+104G>A 0.715655 0.998 Uncertain 1_109740310_-->GAGAGAGTGT 1 109740310 109740310 - GAGAGAGTGT indel 993.73 0/1 99 24 11 13 0.54 intronic rs113482805 KIAA1324 AU NM_020775 exon16 c.83471+34insGAGAGAGTGT Uncertain 1_109740473_C->T 1 109740473 109740473 C T snp 274.77 0/1 99 36 24 12 0.33 intronic rs3818508 KIAA1324 AU NM_020775 exon17 c.83795-127C>T 0.15615 0.4306 Uncertain 1_109740548_G->T 1 109740548 109740548 G T snp 696.77 0/1 99 85 53 32 0.38 intronic rs2296696 KIAA1324 AU NM_020775 exon17 c.83795-52G>T 0.34405 0.5109 0.242882 Uncertain 1_109741516_A->C 1 109741516 109741516 A C snp 385.77 1/1 30 10 0 10 1.0 intronic rs10858081 KIAA1324 AU NM_020775 exon18 c.84491+220A>C 0.88119 0.9603 Uncertain 1_109742452_C->T 1 109742452 109742452 C T snp 216.84 1/1 18 6 0 6 1.0 intronic rs913178 KIAA1324 AU NM_020775 exon19 c.85670-23C>T 0.757788 0.9593 0.700523 0.8027 0.9677 Uncertain 1_109742485_G->A 1 109742485 109742485 G A snp 680.77 1/1 51 21 0 21 1.0 exonic rs913179 KIAA1324 AU synonymous SNV NM_001284353 exon12 c.G1497A p.S499S 0.758786 0.9593 0.700984 0.8024 0.9676 Uncertain 1_109743622_C->T 1 109743622 109743622 C T snp 155.77 0/1 99 25 17 8 0.32 intronic rs3736956 KIAA1324 AU NM_020775 exon21 c.86717+100C>T 0.366813 0.4504 Uncertain 1_109745618_T->C 1 109745618 109745618 T C snp 4248.77 1/1 99 153 0 153 1.0 exonic rs1052878 KIAA1324 AU nonsynonymous SNV NM_001284353 exon15 c.T2012C p.L671P 0.890375 0.9593 0.852914 0.9056 0.9682 0.19 T 0.443 P -0.965 T 0.0 T 0.0 T Pathogenic 1_109771063_T->C 1 109771063 109771063 T C snp 4744.77 1/1 99 185 0 185 1.0 intronic rs683182 SARS AU NM_006513 exon3 c.14440+9T>C 0.679912 0.8879 0.691758 0.7571 0.8970 Uncertain 1_109771881_G->T 1 109771881 109771881 G T snp 272.8 1/1 21 9 0 9 1.0 intronic rs657511 SARS AU NM_006513 exon4 c.15421-154G>T 0.988818 1 Uncertain 1_109778577_T->C 1 109778577 109778577 T C snp 1885.77 1/1 99 67 0 67 1.0 intronic rs658092 SARS AU NM_006513 exon8 c.21984-21T>C 0.689297 0.8879 0.699062 0.7638 0.8976 Uncertain 1_109779556_T->A 1 109779556 109779556 T A snp 2624.77 1/1 99 101 0 101 1.0 intronic rs631927 SARS AU NM_006513 exon10 c.23251-309T>A 0.988618 1 Uncertain 1_109779621_-->C 1 109779621 109779621 - C indel 1574.73 1/1 99 42 0 42 1.0 intronic rs11439617 SARS AU NM_006513 exon10 c.23251-244insC 0.747204 0.9206 Uncertain 1_109792735_-->CGC 1 109792735 109792735 - CGC indel 1300.73 0/1 99 53 24 29 0.55 exonic rs144034706 CELSR2 AU nonframeshift insertion NM_001408 exon1 c.34_35insCGC p.T12delinsTP 0.568291 0.5298 0.621885 0.6876 0.5845 Uncertain 1_109794252_T->C 1 109794252 109794252 T C snp 7999.77 1/1 99 250 0 250 1.0 exonic rs454107 CELSR2 AU synonymous SNV NM_001408 exon1 c.T1551C p.S517S 0.901957 0.997 0.900200 0.9466 0.9993 Uncertain 1_109795026_T->C 1 109795026 109795026 T C snp 6815.77 1/1 99 231 0 231 1.0 exonic rs413380 CELSR2 AU synonymous SNV NM_001408 exon1 c.T2325C p.Y775Y 0.901957 0.997 0.900123 0.9466 0.9993 Uncertain 1_109795608_T->C 1 109795608 109795608 T C snp 6211.77 1/1 99 209 0 209 1.0 exonic rs437444 CELSR2 AU synonymous SNV NM_001408 exon1 c.T2907C p.F969F 0.914337 0.997 0.913501 0.9505 0.9993 Uncertain 1_109796053_C->T 1 109796053 109796053 C T snp 588.77 0/1 99 42 18 24 0.57 intronic rs2359414 CELSR2 AU NM_001408 exon1 c.3310+42C>T 0.303514 0.4504 0.239619 0.2937 0.4663 Uncertain 1_109801393_C->T 1 109801393 109801393 C T snp 1969.77 0/1 99 130 52 78 0.6 exonic rs777728438 CELSR2 AU nonsynonymous SNV NM_001408 exon2 c.C3650T p.T1217M 4.924e-05 0 0.08 T 1.000 D -0.990 T 0.073 T 0.022 T Pathogenic 1_109804646_G->A 1 109804646 109804646 G A snp 285.77 0/1 99 22 11 11 0.5 intronic rs4970833 CELSR2 AU NM_001408 exon5 c.11817+128G>A 0.353035 0.497 Uncertain 1_109806442_C->A 1 109806442 109806442 C A snp 592.77 0/1 99 59 36 23 0.39 intronic rs1337248 CELSR2 AU NM_001408 exon9 c.13698+43C>A 0.489217 0.5536 0.484038 0.5584 0.5399 Uncertain 1_109806834_C->T 1 109806834 109806834 C T snp 2536.77 0/1 99 221 107 114 0.52 exonic rs6698843 CELSR2 AU synonymous SNV NM_001408 exon10 c.C5136T p.P1712P 0.353435 0.498 0.353914 0.4312 0.4711 Uncertain 1_109807099_G->A 1 109807099 109807099 G A snp 1931.77 0/1 99 135 53 82 0.61 exonic rs6689614 CELSR2 AU synonymous SNV NM_001408 exon11 c.G5313A p.P1771P 0.353035 0.497 0.352683 0.4286 0.4701 Uncertain 1_109810544_C->A 1 109810544 109810544 C A snp 817.77 0/1 99 90 53 37 0.41 exonic rs2281894 CELSR2 AU synonymous SNV NM_001408 exon17 c.C6180A p.R2060R 0.225839 0.4206 0.147317 0.2156 0.4352 Uncertain 1_109813020_G->A 1 109813020 109813020 G A snp 626.77 0/1 99 54 33 21 0.39 intronic rs3895559 CELSR2 AU NM_001408 exon24 c.20346-27G>A 0.41873 0.496 0.425957 0.4456 0.4672 Uncertain 1_109813237_TCCCAGTCTTGGGG->- 1 109813237 109813250 TCCCAGTCTTGGGG - indel 13501.7 0/1 99 191 97 94 0.49 intronic rs111491315 CELSR2 AU NM_001408 exon24 c.20521+15_20521+28delTCCCAGTCTTGGGG 0.380391 0.495 0.358333 0.4255 0.4556 Uncertain 1_109816176_A->C 1 109816176 109816176 A C snp 2907.77 1/1 99 108 0 108 1.0 exonic rs441853 CELSR2 AU synonymous SNV NM_001408 exon33 c.A8628C p.G2876G 0.969848 1 0.975160 0.9935 1 Uncertain 1_109825360_C->T 1 109825360 109825360 C T snp 230.84 1/1 18 9 0 9 1.0 splicing rs643457 PSRC1 AU NM_001032291 exon7 c.2584+2C>T 0.971046 1 0.971122 0.9892 1 Pathogenic 1_109836835_A->G 1 109836835 109836835 A G snp 5326.77 1/1 99 196 0 196 1.0 UTR3 rs3738777 MYBPHL AU 0.324081 0.4732 0.241043 0.3216 0.4666 Uncertain 1_109838833_T->C 1 109838833 109838833 T C snp 187.9 1/1 15 7 0 7 1.0 intronic rs616899 MYBPHL AU NM_001265613 exon4 c.1995-22T>C 0.965655 1 0.965170 0.9902 1 Uncertain 1_109838918_C->T 1 109838918 109838918 C T snp 1260.77 1/1 90 50 0 50 1.0 exonic rs629001 MYBPHL AU nonsynonymous SNV NM_001010985 exon6 c.G805A p.D269N 0.874601 1 0.859988 0.9219 0.9999 0.35 T 0.992 P -1.093 T 0.01 T 0.012 T Pathogenic 1_109839392_A->G 1 109839392 109839392 A G snp 2865.77 1/1 99 91 0 91 1.0 intronic rs604349 MYBPHL AU NM_001265613 exon5 c.2544-12A>G 0.752995 0.9722 0.721590 0.8676 0.9685 Uncertain 1_109839433_A->G 1 109839433 109839433 A G snp 4305.77 1/1 99 156 0 156 1.0 exonic rs1278285 MYBPHL AU synonymous SNV NM_001010985 exon5 c.T702C p.T234T 0.925319 1 0.924189 0.9780 1 Uncertain 1_109839954_G->C 1 109839954 109839954 G C snp 202.77 0/1 99 29 20 9 0.31 intronic rs603624 MYBPHL AU NM_001010985 exon7 c.3183-89G>C 0.732228 0.6855 Uncertain 1_109856842_-->G 1 109856842 109856842 - G indel 1003.73 0/1 99 150 72 78 0.52 intronic rs376512771 SORT1 AD NM_002959 exon2 c.218-40insG 0.0423 0.0021 Uncertain 1_109883576_-->AT 1 109883576 109883576 - AT indel 4393.73 1/1 99 83 0 83 1.0 intronic rs3217347 SORT1 AD NM_002959 exon11 c.26837+75insAT 0.740615 0.9563 Uncertain 1_109884775_T->G 1 109884775 109884775 T G snp 1115.77 1/1 78 44 0 44 1.0 exonic rs2228604 SORT1 AD synonymous SNV NM_002959 exon9 c.A969C p.T323T 0.685503 0.9563 0.623020 0.7290 0.9611 Uncertain 1_109897103_A->G 1 109897103 109897103 A G snp 3734.77 1/1 99 140 0 140 1.0 exonic rs11142 SORT1 AD synonymous SNV NM_002959 exon5 c.T594C p.F198F 0.776358 0.9563 0.707673 0.7532 0.9612 Uncertain 1_109898267_G->C 1 109898267 109898267 G C snp 156.78 0/1 24 7 2 5 0.71 intronic rs12027996 SORT1 AD NM_002959 exon17 c.41427+176G>C 0.540935 0.7143 Uncertain 1_109958035_T->C 1 109958035 109958035 T C snp 913.77 1/1 66 38 0 38 1.0 intronic rs1465607 PSMA5 AU NM_001199774 exon7 c.13351+50T>C 0.746006 0.9563 0.677226 0.7446 0.9610 Uncertain 1_110009434_A->C 1 110009434 110009434 A C snp 1178.77 1/1 87 35 0 35 1.0 UTR5 rs2787015 SYPL2 AU 0.747604 0.9633 0.7352 0.9322 Uncertain 1_110009655_C->- 1 110009655 110009655 C - indel 4080.73 1/1 99 118 0 118 1.0 intronic rs138525393 SYPL2 AU NM_001040709 exon2 c.215-25delC 0.687101 0.9633 0.635450 0.7296 0.9386 Uncertain 1_110018148_C->T 1 110018148 110018148 C T snp 2150.77 1/1 99 70 0 70 1.0 intronic rs530565 SYPL2 AU NM_001040709 exon3 c.8737-54C>T 0.99381 1 Uncertain 1_110031188_T->G 1 110031188 110031188 T G snp 782.77 0/1 99 35 8 27 0.77 intronic rs12049330 ATXN7L2 AU NM_153340 exon6 c.4512+101T>G 0.151158 0.2897 Uncertain 1_110086451_G->A 1 110086451 110086451 G A snp 2446.77 0/1 99 201 108 93 0.46 exonic rs17575798 GPR61 AU synonymous SNV NM_031936 exon2 c.G807A p.S269S 0.216853 0.3621 0.170178 0.2084 0.3577 Uncertain 1_110091271_C->T 1 110091271 110091271 C T snp 339.77 0/1 99 22 9 13 0.59 UTR5 rs3737182 GNAI3 AD 0.227037 0.3661 Uncertain 1_110141421_T->C 1 110141421 110141421 T C snp 227.77 0/1 99 18 9 9 0.5 upstream rs1889470 MIR197 AU 0.345647 0.3433 Uncertain 1_110148974_C->T 1 110148974 110148974 C T snp 2944.77 0/1 99 240 113 127 0.53 exonic rs1799875 GNAT2 AU synonymous SNV NM_005272 exon5 c.G546A p.T182T 0.378594 0.626 0.330617 0.4490 0.6399 Uncertain 1_110153198_G->A 1 110153198 110153198 G A snp 480.77 0/1 99 40 21 19 0.47 intronic rs6658641 GNAT2 AU NM_005272 exon7 c.7154+69G>A 0.121605 0.1131 0.139728 Uncertain 1_110155524_T->C 1 110155524 110155524 T C snp 1394.77 0/1 99 96 41 55 0.57 UTR5 rs2304355 GNAT2 AU 0.120607 0.1091 0.134169 0.1526 0.1134 Uncertain 1_110162918_T->C 1 110162918 110162918 T C snp 637.77 0/1 99 50 20 30 0.6 intronic rs28362580 AMPD2 AR NM_139156 exon1 c.10+18T>C 0.188898 0.3036 0.091958 0.1136 0.3114 Uncertain 1_110163076_A->G 1 110163076 110163076 A G snp 96.28 1/1 9 3 0 3 1.0 intronic rs6669802 AMPD2 AR NM_139156 exon1 c.10+176A>G 0.639976 0.9504 Uncertain 1_110163879_G->A 1 110163879 110163879 G A snp 1461.77 0/1 99 128 65 63 0.49 exonic rs28362581 AMPD2 AR nonsynonymous SNV NM_001257360 exon2 c.G244A p.A82T 0.236222 0.3095 0.129253 0.1345 0.3160 0.09 T 1.000 P -1.066 T 0.059 T 0.017 T Pathogenic 1_110164963_C->T 1 110164963 110164963 C T snp 1719.77 0/1 99 128 52 76 0.59 intronic rs12028540 AMPD2 AR NM_004037 exon1 c.253+1075C>T 0.240815 0.3105 0.1960 0.3333 Uncertain 1_110165001_T->A 1 110165001 110165001 T A snp 1300.77 0/1 99 106 45 61 0.58 intronic rs12046933 AMPD2 AR NM_004037 exon1 c.253+1113T>A 0.196286 0.3105 Uncertain 1_110168888_C->G 1 110168888 110168888 C G snp 4116.77 1/1 99 155 0 155 1.0 intronic rs493972 AMPD2 AR NM_004037 exon4 c.5215+38C>G 0.804513 0.9802 0.673843 0.7248 0.9822 Uncertain 1_110169957_A->G 1 110169957 110169957 A G snp 6152.77 1/1 99 202 0 202 1.0 intronic rs524998 AMPD2 AR NM_004037 exon7 c.6303+19A>G 0.850439 0.9812 0.721282 0.7462 0.9808 Uncertain 1_110170896_T->C 1 110170896 110170896 T C snp 2781.77 1/1 99 95 0 95 1.0 exonic rs863978 AMPD2 AR synonymous SNV NM_001257360 exon11 c.T1434C p.H478H 0.807708 0.9802 0.684223 0.7353 0.9820 1.0 P -1.028 T Likely benign 1_110171705_A->C 1 110171705 110171705 A C snp 4413.77 1/1 99 159 0 159 1.0 intronic rs523786 AMPD2 AR NM_004037 exon13 c.8095-25A>C 0.830272 0.9802 0.703752 0.7428 0.9824 Uncertain 1_110172346_-->G 1 110172346 110172346 - G indel 1067.73 1/1 93 31 0 31 1.0 intronic rs397952933 AMPD2 AR NM_004037 exon15 c.8782-71insG 0.85004 0.9802 Uncertain 1_110172362_C->T 1 110172362 110172362 C T snp 582.77 0/1 99 40 17 23 0.57 intronic rs2269341 AMPD2 AR NM_004037 exon15 c.8782-55C>T 0.363419 0.5119 Uncertain 1_110200360_T->C 1 110200360 110200360 T C snp 2830.77 0/1 99 217 105 112 0.52 intronic rs560018 GSTM4 AU NM_000850 exon5 c.1382-33T>C 0.154952 0.0466 0.285868 0.2650 0.0480 Uncertain 1_110201580_C->T 1 110201580 110201580 C T snp 5947.77 1/1 99 221 0 221 1.0 intronic rs650985 GSTM4 AU NM_000850 exon7 c.2610-41C>T 0.979633 1 0.957020 0.9586 1 Uncertain 1_110201699_T->C 1 110201699 110201699 T C snp 3625.77 1/1 99 109 0 109 1.0 exonic rs506008 GSTM4 AU synonymous SNV NM_000850 exon7 c.T534C p.F178F 0.805312 0.9702 0.785462 0.8598 0.9762 Uncertain 1_110201809_G->T 1 110201809 110201809 G T snp 4175.77 1/1 99 155 0 155 1.0 intronic rs562996 GSTM4 AU NM_000850 exon7 c.2721+77G>T 0.874002 0.9692 0.8799 0.9742 0.000 P -0.882 T Uncertain 1_110201812_A->G 1 110201812 110201812 A G snp 4255.77 1/1 99 160 2 158 0.99 intronic rs563003 GSTM4 AU NM_000850 exon7 c.2721+80A>G 0.874002 0.9692 0.8800 0.9742 0.0 P -0.923 T Uncertain 1_110210780_C->G 1 110210780 110210780 C G snp 2335.77 1/1 99 83 0 83 1.0 intronic rs530021 GSTM2 AU NM_001142368 exon1 c.36+7C>G 0.904752 0.9702 0.911733 0.9091 0.9766 Uncertain 1_110230767_G->A 1 110230767 110230767 G A snp 734.77 1/1 57 21 0 21 1.0 intronic rs10857795 GSTM1 AU NM_000561 exon2 c.296-24G>A 0.894169 0.996 0.819355 0.8321 0.9974 Uncertain 1_110231592_T->C 1 110231592 110231592 T C snp 683.77 1/1 51 19 0 19 1.0 intronic rs737497 GSTM1 AU NM_000561 exon4 c.1174-77T>C 0.313099 0.5347 0.3517 0.6376 Uncertain 1_110233138_G->C 1 110233138 110233138 G C snp 1991.77 1/1 99 67 0 67 1.0 exonic rs74837985 GSTM1 AU nonsynonymous SNV NM_000561 exon7 c.G519C p.K173N 0.461661 0.7778 0.289537 0.3680 0.6754 0.18 T 0.997 P -0.951 T 0.028 T 0.033 T Pathogenic 1_110252010_T->C 1 110252010 110252010 T C snp 2552.77 1/1 99 99 0 99 1.0 intergenic rs1292098 GSTM1 AU 0.858027 0.8482 Uncertain 1_110252091_G->A 1 110252091 110252091 G A snp 728.77 0/1 99 68 32 36 0.53 intergenic rs35677255 GSTM1 AU 0.377396 0.6885 Uncertain 1_110255174_T->G 1 110255174 110255174 T G snp 656.77 0/1 99 46 21 25 0.54 intronic rs929166 GSTM5 AU NM_000851 exon2 c.305-65T>G 0.353435 0.6865 Uncertain 1_110256473_C->G 1 110256473 110256473 C G snp 1418.77 0/1 99 116 59 57 0.49 intronic rs17014553 GSTM5 AU NM_000851 exon5 c.1449+90C>G 0.0199681 0.0992 Uncertain 1_110279701_C->T 1 110279701 110279701 C T snp 1118.77 0/1 99 119 71 48 0.4 exonic rs7483 GSTM3 AU nonsynonymous SNV NM_000849 exon9 c.G670A p.V224I 0.360623 0.7252 0.233969 0.3415 0.7378 1 T 0.0 P -0.926 T 0.0 T 0.0 T ID=CM097909;DIS=Reduced IgG titer levels in serum against Helicobacter pylori, association with;TAG=DFP;PUB=19696791 DFP Pathogenic 1_110279821_C->A 1 110279821 110279821 C A snp 2166.77 0/1 99 243 144 99 0.41 intronic rs1537234 GSTM3 AU NM_000849 exon1 c.99+30C>A 0.486821 0.8611 0.352376 0.4648 0.8450 Uncertain 1_110279914_C->T 1 110279914 110279914 C T snp 1104.77 0/1 99 104 62 42 0.4 intronic rs1571858 GSTM3 AU NM_000849 exon1 c.99+123C>T 0.369409 0.7113 Uncertain 1_110281941_G->A 1 110281941 110281941 G A snp 224.77 0/1 99 20 10 10 0.5 intronic rs10735234 GSTM3 AU NM_000849 exon6 c.2358-109G>A 0.748403 0.8601 Uncertain 1_110282972_G->T 1 110282972 110282972 G T snp 2929.77 0/1 99 222 107 115 0.52 UTR5 rs1332018 GSTM3 AU 0.741414 0.8611 0.649146 0.6759 0.8565 ID=CR058050;DIS=Reduced expression;TAG=FP;PUB=15665284 FP Uncertain 1_110292856_G->C 1 110292856 110292856 G C snp 119.77 0/1 95 8 3 5 0.63 UTR3 rs15864 EPS8L3 AU 0.347843 0.744 ID=CR109636;DIS=Head and neck cancer, second primary tumour, reduced risk, assoc;TAG=DP;PUB=20819778 DP Uncertain 1_110295772_T->C 1 110295772 110295772 T C snp 1563.77 0/1 99 148 80 68 0.46 exonic rs1887547 EPS8L3 AU synonymous SNV NM_139053 exon13 c.A1170G p.S390S 0.770168 0.8601 0.689297 0.6614 0.8389 Uncertain 1_110295890_C->G 1 110295890 110295890 C G snp 489.77 0/1 99 61 39 22 0.36 intronic rs1887548 EPS8L3 AU NM_139053 exon7 c.2808+70C>G 0.767173 0.8591 Uncertain 1_110300441_G->A 1 110300441 110300441 G A snp 1129.77 0/1 99 107 62 45 0.42 exonic rs3818562 EPS8L3 AU nonsynonymous SNV NM_139053 exon10 c.C880T p.H294Y 0.473243 0.7907 0.403429 0.4843 0.7775 1 T 0.0 P -0.962 T 0.0 T 0.0 T Pathogenic 1_110300504_A->G 1 110300504 110300504 A G snp 4041.77 1/1 99 142 0 142 1.0 intronic rs10776700 EPS8L3 AU NM_139053 exon10 c.7473+19A>G 0.992412 1 0.981931 0.9833 1 Uncertain 1_110301767_GT->- 1 110301767 110301768 GT - indel 1698.73 1/1 1 54 4 50 0.93 intronic rs35360175 EPS8L3 AU NM_139053 exon14 c.8727+28_8727+29delGT 0.2374 0.2974 Uncertain 1_110304537_G->A 1 110304537 110304537 G A snp 672.77 0/1 99 48 24 24 0.5 intronic rs6676659 EPS8L3 AU NM_139053 exon18 c.11383+142G>A 0.317093 0.126 Uncertain 1_110456866_C->A 1 110456866 110456866 C A snp 916.77 0/1 99 93 49 44 0.47 intronic rs2297706 CSF1 AU NM_000757 exon2 c.3235-14C>A 0.324281 0.5337 0.242119 0.2289 0.5150 Uncertain 1_110459773_C->T 1 110459773 110459773 C T snp 80.77 0/1 61 5 2 3 0.6 intronic rs333967 CSF1 AU NM_000757 exon4 c.6269-141C>T 0.310104 0.4018 Uncertain 1_110466338_C->A 1 110466338 110466338 C A snp 3820.77 0/1 99 250 111 139 0.56 exonic rs333970 CSF1 AU synonymous SNV NM_000757 exon6 c.C1095A p.T365T 0.430112 0.4018 0.464632 0.5573 0.4316 Uncertain 1_110466466_T->C 1 110466466 110466466 T C snp 1703.77 0/1 99 171 101 70 0.41 exonic rs1058885 CSF1 AU nonsynonymous SNV NM_000757 exon6 c.T1223C p.L408P 0.421526 0.5972 0.395510 0.3815 0.5875 0.33 T 0.000 P -0.974 T 0.002 T 0.007 T ID=CM066774;DIS=Periodontitis, association with;TAG=DP;PUB=16844084 DP Pathogenic 1_110466555_G->A 1 110466555 110466555 G A snp 1360.77 0/1 99 135 77 58 0.43 exonic rs2229165 CSF1 AU nonsynonymous SNV NM_000757 exon6 c.G1312A p.G438R 0.111422 0.1488 0.052976 0.0504 0.1601 0.51 T 0.0 P -0.930 T 0.046 T 0.046 T Pathogenic 1_110466709_T->C 1 110466709 110466709 T C snp 5174.77 1/1 99 191 0 191 1.0 exonic rs333971 CSF1 AU nonsynonymous SNV NM_000757 exon6 c.T1466C p.F489S 0.996805 1 0.996848 0.9991 1 1 T 0.0 P -0.915 T 0.002 T 0.001 T Pathogenic 1_110466810_C->A 1 110466810 110466810 C A snp 663.77 0/1 99 44 20 24 0.55 exonic rs2229166 CSF1 AU synonymous SNV NM_000757 exon6 c.C1567A p.R523R 0.316494 0.5268 0.236472 0.2337 0.5152 Uncertain 1_110467745_A->G 1 110467745 110467745 A G snp 1051.77 1/1 75 38 0 38 1.0 intronic rs333972 CSF1 AU NM_000757 exon8 c.14123-23A>G 0.996805 1 0.996848 0.9991 1 Uncertain 1_110558276_-->C 1 110558276 110558276 - C indel 1026.73 1/1 72 24 0 24 1.0 intronic rs11384766 AHCYL1 AU NM_001242676 exon7 c.6477+123insC 0.96246 1 Uncertain 1_110580702_A->G 1 110580702 110580702 A G snp 46.77 0/1 31 3 1 2 0.67 intronic rs2021518 STRIP1 AU NM_033088 exon2 c.3323+120A>G Uncertain 1_110580704_A->G 1 110580704 110580704 A G snp 44.78 0/1 27 3 1 2 0.67 intronic rs4494133 STRIP1 AU NM_033088 exon2 c.3323+122A>G Uncertain 1_110581780_T->G 1 110581780 110581780 T G snp 1522.77 0/1 99 97 38 59 0.61 intronic rs1834 STRIP1 AU NM_033088 exon4 c.4534-13T>G 0.297923 0.3403 0.179840 0.2573 0.3909 Uncertain 1_110591655_G->A 1 110591655 110591655 G A snp 430.77 0/1 99 41 25 16 0.39 intronic STRIP1 AU NM_033088 exon16 c.14474-78G>A Uncertain 1_110593528_T->C 1 110593528 110593528 T C snp 1152.77 0/1 99 90 49 41 0.46 intronic rs576186243 STRIP1 AU NM_033088 exon19 c.16318-49T>C 0.000998403 0.005 0.0005 0.0071 Uncertain 1_110603286_-->GGTGCTTCCTCCGTGGTGTCCAGGCAGG 1 110603286 110603286 - GGTGCTTCCTCCGTGGTGTCCAGGCAGG indel 5511.73 1/1 54 18 0 18 1.0 UTR3 rs144523285 ALX3 AR 0.719848 0.7629 Uncertain 1_110612925_G->A 1 110612925 110612925 G A snp 348.78 1/1 27 15 0 15 1.0 intronic rs2274568 ALX3 AR NM_006492 exon4 c.9603-32G>A 0.693291 0.7679 0.668119 0.6573 0.8218 Uncertain 1_110735037_T->G 1 110735037 110735037 T G snp 558.77 1/1 45 16 0 16 1.0 intronic rs2603583 SLC6A17 AR NM_001010898 exon8 c.25576-90T>G 0.534744 0.3532 Uncertain 1_110738296_G->A 1 110738296 110738296 G A snp 1410.77 0/1 99 137 72 65 0.47 exonic rs2784140 SLC6A17 AR synonymous SNV NM_001010898 exon10 c.G1581A p.S527S 0.289736 0.3016 0.367600 0.4141 0.2750 Uncertain 1_110740273_G->T 1 110740273 110740273 G T snp 581.77 0/1 99 30 8 22 0.73 intronic rs2603581 SLC6A17 AR NM_001010898 exon11 c.30670+52G>T 0.316494 0.3056 0.379196 0.4228 0.2782 Uncertain 1_110740688_C->T 1 110740688 110740688 C T snp 1341.77 0/1 99 117 67 50 0.43 intronic rs2761445 SLC6A17 AR NM_001010898 exon12 c.31146-9C>T 0.319489 0.3056 0.398201 0.4355 0.2774 Uncertain 1_110740931_G->A 1 110740931 110740931 G A snp 2624.77 0/1 99 250 137 113 0.45 exonic rs6685009 SLC6A17 AR synonymous SNV NM_001010898 exon12 c.G2049A p.E683E 0.155351 0.0357 0.151392 0.0548 0.0355 Uncertain 1_110741098_C->G 1 110741098 110741098 C G snp 1018.77 0/1 99 77 38 39 0.51 UTR3 rs201988914 SLC6A17 AR 0.0001 0.0014 Uncertain 1_110754052_A->T 1 110754052 110754052 A T snp 588.77 0/1 99 28 9 19 0.68 UTR5 rs114915950 KCNC4 AU 0.124002 0.0308 Uncertain 1_110766466_G->A 1 110766466 110766466 G A snp 6612.77 1/1 99 225 0 225 1.0 exonic rs12411176 KCNC4 AU nonsynonymous SNV NM_001039574 exon2 c.G1559A p.C520Y 0.0748802 0.0893 0.048439 0.0370 0.1016 1 T 0.000 P -0.201 T 0.0 T 0.0 T ID=COSM4142121,COSM4142122;OCCURENCE=1(thyroid) Pathogenic 1_110882444_A->G 1 110882444 110882444 A G snp 3219.84 1/1 99 112 0 112 1.0 exonic rs814771 RBM15 AU synonymous SNV NM_022768 exon1 c.A417G p.E139E 0.822883 0.7738 0.791817 0.7613 0.7513 Uncertain 1_110883917_A->G 1 110883917 110883917 A G snp 5904.77 1/1 99 207 0 207 1.0 exonic rs3738751 RBM15 AU synonymous SNV NM_022768 exon1 c.A1890G p.R630R 0.0702875 0.2411 0.007996 0.0290 0.2318 Uncertain 1_110931783_C->T 1 110931783 110931783 C T snp 1967.77 1/1 99 60 0 60 1.0 intronic rs80270177 SLC16A4 AU NM_004696 exon8 c.25471-75C>T 0.0704872 0.2421 Uncertain 1_110949720_C->T 1 110949720 110949720 C T snp 2248.77 1/1 99 81 0 81 1.0 intronic rs6671673 LAMTOR5 AU NM_006402 exon4 c.6063-487C>T 0.577476 0.5159 0.5157 0.4769 Uncertain 1_110949857_A->T 1 110949857 110949857 A T snp 254.8 1/1 21 7 0 7 1.0 intronic rs6684395 LAMTOR5 AU NM_006402 exon4 c.6063-350A>T 0.577276 0.5159 Uncertain 1_110993990_G->A 1 110993990 110993990 G A snp 2754.77 1/1 99 104 0 104 1.0 intronic rs4839391 PROK1 AU NM_032414 exon1 c.72+80G>A 0.166134 0.2917 Uncertain 1_110998766_T->A 1 110998766 110998766 T A snp 599.77 1/1 45 17 0 17 1.0 intronic rs7551116 PROK1 AU NM_032414 exon3 c.5015-87T>A 0.443091 0.5774 Uncertain 1_110998854_G->A 1 110998854 110998854 G A snp 2441.77 1/1 99 87 0 87 1.0 exonic rs7514102 PROK1 AU nonsynonymous SNV NM_032414 exon3 c.G199A p.V67I 0.441094 0.5754 0.405428 0.4362 0.5693 0.582 P -1.067 T 0.003 T 0.009 T Pathogenic 1_111059825_G->A 1 111059825 111059825 G A snp 927.77 0/1 99 66 36 30 0.45 downstream rs3768457 KCNA10 AU 0.153554 0.1736 0.182224 0.2002 0.1645 Uncertain 1_111060669_T->C 1 111060669 111060669 T C snp 3814.77 1/1 99 133 0 133 1.0 exonic rs1281175 KCNA10 AU synonymous SNV NM_005549 exon1 c.A741G p.L247L 0.624201 0.5853 0.671536 0.7049 0.5743 Uncertain 1_111061011_C->A 1 111061011 111061011 C A snp 2271.77 0/1 99 227 129 98 0.43 exonic rs3748731 KCNA10 AU synonymous SNV NM_005549 exon1 c.G399T p.R133R 0.181909 0.1736 0.212056 0.2117 0.1668 Uncertain 1_111061062_T->C 1 111061062 111061062 T C snp 5651.77 1/1 99 196 0 196 1.0 exonic rs1281174 KCNA10 AU synonymous SNV NM_005549 exon1 c.A348G p.E116E 0.624201 0.5853 0.671152 0.7050 0.5743 Uncertain 1_111136611_G->A 1 111136611 111136611 G A snp 1435.77 0/1 99 137 65 72 0.53 intergenic rs17026168 KCNA10 AU 0.19349 0.4792 Uncertain 1_111144526_T->G 1 111144526 111144526 T G snp 384.77 1/1 30 13 0 13 1.0 intergenic rs4839071 KCNA10 AU 0.998802 1 Uncertain 1_111144661_A->G 1 111144661 111144661 A G snp 1768.77 1/1 99 64 0 64 1.0 intergenic rs12407942 KCNA10 AU 0.215655 0.3879 0.1350 0.3704 Uncertain 1_111390625_T->- 1 111390625 111390625 T - indel 141.94 0/1 13 18 4 14 0.78 intergenic rs112561357 KCNA3 AU 0.461462 0.5288 Uncertain 1_111436857_T->G 1 111436857 111436857 T G snp 2249.77 0/1 99 194 102 92 0.47 intronic rs1578956 CD53 AU NM_000560 exon4 c.2918-91T>G 0.559704 0.501 Uncertain 1_111436858_C->T 1 111436858 111436858 C T snp 2278.77 0/1 99 196 102 94 0.48 intronic rs1936943 CD53 AU NM_000560 exon4 c.2918-90C>T 0.559704 0.501 Uncertain 1_111437129_A->C 1 111437129 111437129 A C snp 732.77 0/1 99 46 19 27 0.59 intronic rs1343817 CD53 AU NM_000560 exon4 c.2993+106A>C 0.391973 0.4276 Uncertain 1_111437176_-->A 1 111437176 111437176 - A indel 144.73 0/1 99 15 7 8 0.53 intronic rs386368055 CD53 AU NM_000560 exon4 c.2993+153insA 0.559904 0.501 Uncertain 1_111439527_A->G 1 111439527 111439527 A G snp 46.77 0/1 31 3 1 2 0.67 intronic rs2070750 CD53 AU NM_000560 exon6 c.5325+172A>G 0.56849 0.501 Uncertain 1_111441829_C->T 1 111441829 111441829 C T snp 1918.77 0/1 99 181 96 85 0.47 UTR3 rs1803259 CD53 AU 0.556709 0.501 0.636399 0.6871 0.4830 Uncertain 1_111492807_G->A 1 111492807 111492807 G A snp 323.77 0/1 99 24 13 11 0.46 intronic rs2232044 LRIF1 AU NM_018372 exon2 c.2165+62G>A 0.214457 0.3502 Uncertain 1_111661413_T->C 1 111661413 111661413 T C snp 2015.77 0/1 99 186 89 97 0.52 intronic rs325916 DRAM2 AR NM_178454 exon2 c.645-13T>C 0.476438 0.2827 0.452930 0.4532 0.3100 Uncertain 1_111661528_T->C 1 111661528 111661528 T C snp 1294.77 0/1 99 110 57 53 0.48 intronic rs325917 DRAM2 AR NM_178454 exon2 c.738+9T>C 0.328474 0.2808 0.242578 0.2599 0.2906 Uncertain 1_111662723_G->A 1 111662723 111662723 G A snp 445.77 0/1 99 24 10 14 0.58 intronic rs325918 DRAM2 AR NM_178454 exon3 c.1800+142G>A 0.315695 0.2808 Uncertain 1_111726026_G->A 1 111726026 111726026 G A snp 1195.77 0/1 99 112 56 56 0.5 intronic rs2243393 CEPT1 AU NM_006090 exon8 c.35747-57G>A 0.488219 0.3105 Uncertain 1_111726213_A->G 1 111726213 111726213 A G snp 1916.77 1/1 99 67 0 67 1.0 splicing rs694180 CEPT1 AU NM_006090 exon8 c.35873+4A>G 0.754992 0.6458 0.710057 0.7003 0.6469 Pathogenic 1_111726869_G->A 1 111726869 111726869 G A snp 2079.77 0/1 99 181 91 90 0.5 exonic rs3795823 CEPT1 AU synonymous SNV NM_001007794 exon9 c.G1188A p.A396A 0.189297 0.3294 0.206520 0.2421 0.3625 Uncertain 1_111731158_A->G 1 111731158 111731158 A G snp 117.77 0/1 99 8 3 5 0.63 intronic rs2297703 DENND2D AU NM_024901 exon3 c.1097-165A>G 0.272165 0.3373 Uncertain 1_111731215_G->A 1 111731215 111731215 G A snp 432.77 0/1 99 29 15 14 0.48 intronic rs2297702 DENND2D AU NM_024901 exon3 c.1097-108G>A 0.0704872 0.1627 Uncertain 1_111737183_C->T 1 111737183 111737183 C T snp 612.77 1/1 45 22 0 22 1.0 intronic rs660173 DENND2D AU NM_024901 exon6 c.6973-16C>T 0.767971 0.6597 0.724127 0.7169 0.6500 Uncertain 1_111737398_G->A 1 111737398 111737398 G A snp 246.77 0/1 99 32 23 9 0.28 intronic rs9970286 DENND2D AU NM_024901 exon6 c.7122+50G>A 0.303914 0.376 0.302168 0.2947 0.3909 Uncertain 1_111739771_-->CAGGACAAA 1 111739771 111739771 - CAGGACAAA indel 13797.7 1/1 99 120 0 120 1.0 intronic rs3833538 DENND2D AU NM_024901 exon8 c.9571-26insCAGGACAAA 0.60024 0.5853 0.475817 0.5167 0.6147 Uncertain 1_111742838_G->C 1 111742838 111742838 G C snp 130.03 1/1 12 4 0 4 1.0 intronic rs639306 DENND2D AU NM_024901 exon12 c.12788-176G>C 0.911542 0.994 Uncertain 1_111770423_T->G 1 111770423 111770423 T G snp 835.77 0/1 99 74 35 39 0.53 intronic rs755467 CHI3L2 AU NM_001025197 exon1 c.40+32T>G 0.690895 0.6716 0.696602 0.7132 0.6566 ID=CR057791;DIS=Increased promoter activity;TAG=FP;PUB=16251966 FP Uncertain 1_111773568_G->C 1 111773568 111773568 G C snp 2116.77 0/1 99 175 85 90 0.51 splicing rs2255089 CHI3L2 AU NM_001025197 exon2 c.3214+3G>C 0.404952 0.5575 0.386975 0.4347 0.5478 Pathogenic 1_111773600_A->G 1 111773600 111773600 A G snp 1641.77 0/1 99 117 55 62 0.53 intronic rs2274232 CHI3L2 AU NM_001025197 exon2 c.3214+35A>G 0.15615 0.3581 0.070737 0.1231 0.3683 Uncertain 1_111773830_A->T 1 111773830 111773830 A T snp 1596.77 0/1 99 117 56 61 0.52 intronic rs2147789 CHI3L2 AU NM_001025197 exon3 c.3508-29A>T 0.411342 0.5565 0.392050 0.4311 0.5468 Uncertain 1_111778187_A->G 1 111778187 111778187 A G snp 107.77 0/1 99 13 8 5 0.38 intronic rs2251715 CHI3L2 AU NM_001025197 exon5 c.7909-73A>G 0.341454 0.5585 Uncertain 1_111778241_C->T 1 111778241 111778241 C T snp 1334.77 1/1 99 41 0 41 1.0 intronic rs2764544 CHI3L2 AU NM_001025197 exon5 c.7909-19C>T 0.961262 1 0.960710 0.9892 1 Uncertain 1_111778468_G->A 1 111778468 111778468 G A snp 1307.77 0/1 99 110 54 56 0.51 intronic rs961364 CHI3L2 AU NM_001025197 exon5 c.8034+83G>A 0.237021 0.3204 Uncertain 1_111778824_T->C 1 111778824 111778824 T C snp 278.77 0/1 99 32 22 10 0.31 intronic rs2251608 CHI3L2 AU NM_001025197 exon6 c.8424+49T>C 0.646965 0.6756 0.649431 0.6899 0.6658 Uncertain 1_111783942_C->T 1 111783942 111783942 C T snp 965.77 0/1 99 88 45 43 0.49 intronic rs56403938 CHI3L2 AU NM_001025197 exon8 c.13597-6C>T 0.148962 0.3601 0.063432 0.1144 0.3601 Uncertain 1_111783996_A->G 1 111783996 111783996 A G snp 3644.77 1/1 99 131 1 130 0.99 exonic rs2494007 CHI3L2 AU synonymous SNV NM_004000 exon9 c.A966G p.Q322Q 0.999401 1 0.999385 0.9998 1 Uncertain 1_111784148_T->G 1 111784148 111784148 T G snp 2386.77 1/1 99 77 0 77 1.0 intronic rs2764551 CHI3L2 AU NM_001025197 exon8 c.13714+83T>G 1 1 Uncertain 1_111785550_C->T 1 111785550 111785550 C T snp 48.74 1/1 6 2 0 2 1.0 intronic rs3135451 CHI3L2 AU NM_001025197 exon10 c.15487-288C>T 0.967452 1 Uncertain 1_111785929_C->A 1 111785929 111785929 C A snp 619.77 0/1 99 55 32 23 0.42 UTR3 rs8535 CHI3L2 AU 0.239617 0.3214 Uncertain 1_111785930_T->C 1 111785930 111785930 T C snp 811.77 0/1 99 55 23 32 0.58 UTR3 rs1056825 CHI3L2 AU 0.543331 0.6567 Uncertain 1_111825883_T->C 1 111825883 111825883 T C snp 1550.77 0/1 99 97 47 50 0.52 ncRNA_intronic rs4406629 CHIAP2 AU 0.439896 0.6954 Uncertain 1_111826007_C->T 1 111826007 111826007 C T snp 1273.77 0/1 99 120 68 52 0.43 ncRNA_exonic rs58982671 CHIAP2 AU 0.216254 0.3006 Uncertain 1_111833441_G->A 1 111833441 111833441 G A snp 2962.77 1/1 99 122 2 120 0.98 upstream rs11102235 CHIA AU 0.465455 0.7411 0.4186 0.7548 Uncertain 1_111833488_-->CT 1 111833488 111833488 - CT indel 5023.73 1/1 99 115 0 115 1.0 UTR5 rs34698010 CHIA AU 0.470048 0.7411 0.4360 0.7540 Uncertain 1_111833517_G->A 1 111833517 111833517 G A snp 2258.77 1/1 99 84 0 84 1.0 UTR5 rs12026825 CHIA AU 0.465455 0.7411 0.4359 0.7543 0.13 T 0.0 P -0.894 T Uncertain 1_111854096_A->G 1 111854096 111854096 A G snp 120.03 1/1 12 4 0 4 1.0 intronic rs4839121 CHIA AU NM_201653 exon3 c.1221-214A>G 0.981829 1 Uncertain 1_111854207_T->C 1 111854207 111854207 T C snp 4616.77 1/1 99 151 0 151 1.0 intronic rs4839122 CHIA AU NM_201653 exon3 c.1221-103T>C 0.686701 0.8442 Uncertain 1_111854223_C->T 1 111854223 111854223 C T snp 5411.77 1/1 99 184 0 184 1.0 intronic rs6537695 CHIA AU NM_201653 exon3 c.1221-87C>T 0.577875 0.8442 Uncertain 1_111854755_A->C 1 111854755 111854755 A C snp 471.77 1/1 36 14 1 13 0.93 intronic rs4423003 CHIA AU NM_201653 exon4 c.1722-56A>C 0.958067 1 Uncertain 1_111957097_C->G 1 111957097 111957097 C G snp 2249.77 1/1 99 79 0 79 1.0 exonic rs7825 OVGP1 AU nonsynonymous SNV NM_002557 exon11 c.G2026C p.E676Q 0.622404 0.7589 0.524685 0.5127 0.7568 1 T 0.0 P -0.978 T 0.0 T 0.0 T Pathogenic 1_111957311_G->C 1 111957311 111957311 G C snp 1264.77 0/1 99 130 72 58 0.45 exonic rs10067 OVGP1 AU nonsynonymous SNV NM_002557 exon11 c.C1812G p.H604Q 0.294928 0.3919 0.185222 0.1649 0.4026 0.02 T 0.0 P -0.918 T 0.005 T 0.005 T ID=CM066158;DIS=Leukemia, risk, association with;TAG=DP;PUB=16574953 DP Pathogenic 1_111957560_T->C 1 111957560 111957560 T C snp 809.77 0/1 99 182 138 44 0.24 exonic rs201210901 OVGP1 AU synonymous SNV NM_002557 exon11 c.A1563G p.E521E 0.0002 0.0003 Uncertain 1_111957562_C->G 1 111957562 111957562 C G snp 683.77 0/1 99 179 139 40 0.22 exonic rs201662631 OVGP1 AU nonsynonymous SNV NM_002557 exon11 c.G1561C p.E521Q 0.0001 0.0003 0.06 T 1 N -0.916 T 0.939 T 0.396 D Pathogenic 1_111957563_C->T 1 111957563 111957563 C T snp 486.77 0/1 99 181 142 39 0.22 exonic rs374145757 OVGP1 AU synonymous SNV NM_002557 exon11 c.G1560A p.G520G 0.0002 0.0002 Uncertain 1_111957568_G->T 1 111957568 111957568 G T snp 573.77 0/1 99 183 144 39 0.21 exonic rs113984808 OVGP1 AU nonsynonymous SNV NM_002557 exon11 c.C1555A p.P519T 4.234e-05 0.0002 0 D 1 N -0.951 T 0.43 T 0.132 T Pathogenic 1_111957583_A->G 1 111957583 111957583 A G snp 619.77 0/1 99 195 156 39 0.2 exonic rs1126656 OVGP1 AU nonsynonymous SNV NM_002557 exon11 c.T1540C p.Y514H 0.0065 0.0009 0.47 T 0.0 P -0.937 T 0.0 T 0.0 T Pathogenic 1_111957592_A->G 1 111957592 111957592 A G snp 529.77 0/1 99 206 171 35 0.17 exonic rs56294468 OVGP1 AU nonsynonymous SNV NM_002557 exon11 c.T1531C p.S511P 0.223243 0.1587 0.258241 0.0041 0.0011 0.34 T 0.0 P -0.920 T 0.0 T 0.0 T Pathogenic 1_111957605_C->T 1 111957605 111957605 C T snp 88.77 0/1 99 196 176 20 0.1 exonic rs755213706 OVGP1 AU synonymous SNV NM_002557 exon11 c.G1518A p.Q506Q 0.0009 0 Uncertain 1_111957608_T->C 1 111957608 111957608 T C snp 44.77 0/1 73 189 173 16 0.08 exonic rs747900476 OVGP1 AU synonymous SNV NM_002557 exon11 c.A1515G p.G505G 0.0009 0 Uncertain 1_111957693_A->G 1 111957693 111957693 A G snp 4875.77 1/1 99 175 0 175 1.0 exonic rs2485319 OVGP1 AU nonsynonymous SNV NM_002557 exon11 c.T1430C p.M477T 0.631789 0.7718 0.531831 0.5137 0.7644 0.72 T 0.0 P -0.939 T 0.0 T 0.0 T Pathogenic 1_111962455_C->T 1 111962455 111962455 C T snp 136.03 1/1 12 4 0 4 1.0 intronic rs1264881 OVGP1 AU NM_002557 exon3 c.5263+107C>T 0.463059 0.5923 Uncertain 1_111964144_G->C 1 111964144 111964144 G C snp 1187.77 0/1 99 101 51 50 0.5 intronic rs1264885 OVGP1 AU NM_002557 exon5 c.7101-42G>C 0.226238 0.4395 0.130017 0.1710 0.4440 Uncertain 1_111968121_C->T 1 111968121 111968121 C T snp 629.77 0/1 99 56 26 30 0.54 intronic rs1264887 OVGP1 AU NM_002557 exon8 c.10976+60C>T 0.263179 0.4395 0.145423 0.1896 0.4805 0.0 P Uncertain 1_111969294_A->G 1 111969294 111969294 A G snp 1212.77 0/1 99 130 78 52 0.4 intronic rs1264892 OVGP1 AU NM_002557 exon9 c.12178+31A>G 0.597244 0.744 0.501230 0.5307 0.7662 Uncertain 1_111969432_C->G 1 111969432 111969432 C G snp 343.77 0/1 99 26 13 13 0.5 intronic rs1264893 OVGP1 AU NM_002557 exon9 c.12178+169C>G 0.184704 0.3859 0.1483 0.4018 0.0 P -1.011 T Uncertain 1_111969719_A->G 1 111969719 111969719 A G snp 1317.77 0/1 99 136 76 60 0.44 splicing rs1264894 OVGP1 AU NM_002557 exon10 c.12628+6A>G 0.58147 0.744 0.487390 0.4703 0.7422 Pathogenic 1_111985229_G->T 1 111985229 111985229 G T snp 303.77 0/1 91 13 3 10 0.77 intronic rs1264902 WDR77 AU NM_024102 exon3 c.1423-45G>T 0.580871 0.744 0.486696 0.4973 0.7521 Uncertain 1_111991845_C->A 1 111991845 111991845 C A snp 2272.77 0/1 99 231 130 101 0.44 UTR5 rs1270853 ATP5F1 AU 0.532149 0.744 0.5549 0.7532 Uncertain 1_111992095_C->T 1 111992095 111992095 C T snp 2456.77 0/1 99 230 124 106 0.46 UTR5 rs1264899 ATP5F1 AU 0.492412 0.744 0.403636 0.4466 0.7438 Uncertain 1_112020223_C->- 1 112020223 112020223 C - indel 588.73 1/1 51 19 0 19 1.0 intronic rs3831358 C1orf162 AU NM_001300835 exon4 c.1630-49delC 0.000199681 0.689113 0.7178 0.4562 Uncertain 1_112020224_C->A 1 112020224 112020224 C A snp 470.77 0/1 30 19 3 16 0.84 intronic rs115634476 C1orf162 AU NM_001300835 exon4 c.1630-48C>A 0.7121 0.4499 Uncertain 1_112020238_A->C 1 112020238 112020238 A C snp 739.77 1/1 57 23 0 23 1.0 intronic rs2211494 C1orf162 AU NM_001300835 exon4 c.1630-34A>C 1 1 0.9961 0.9951 Uncertain 1_112028577_A->T 1 112028577 112028577 A T snp 678.77 0/1 99 49 25 24 0.49 intronic rs2275796 TMIGD3 AU NM_020683 exon2 c.2154+115A>T 0.43111 0.4345 Uncertain 1_112029193_A->G 1 112029193 112029193 A G snp 464.77 0/1 99 47 27 20 0.43 intronic rs2252739 TMIGD3 AU NM_020683 exon3 c.2899-14A>G 0.790735 0.7887 0.795095 0.8142 0.7876 Uncertain 1_112029325_A->G 1 112029325 112029325 A G snp 906.77 0/1 99 73 36 37 0.51 intronic rs2800906 TMIGD3 AU NM_020683 exon3 c.2966+51A>G 0.787939 0.7887 0.792096 0.8138 0.7887 Uncertain 1_112032347_G->A 1 112032347 112032347 G A snp 1508.77 0/1 99 160 89 71 0.44 intronic rs2789539 TMIGD3 AU NM_020683 exon4 c.5338+701G>A 0.489617 0.4484 Uncertain 1_112033456_-->A 1 112033456 112033456 - A indel 1326.73 0/1 99 100 55 45 0.45 intronic rs3831359 TMIGD3 AU NM_020683 exon5 c.7076+72insA 0.513778 0.5139 Uncertain 1_112033515_T->C 1 112033515 112033515 T C snp 620.77 0/1 99 50 26 24 0.48 intronic rs2252198 TMIGD3 AU NM_020683 exon5 c.7076+131T>C 0.513778 0.5139 Uncertain 1_112033519_A->G 1 112033519 112033519 A G snp 596.77 0/1 99 47 24 23 0.49 intronic rs2252197 TMIGD3 AU NM_020683 exon5 c.7076+135A>G 0.513578 0.5139 Uncertain 1_112042632_A->G 1 112042632 112042632 A G snp 2241.77 0/1 99 182 89 93 0.51 exonic rs2229155 ADORA3 AU synonymous SNV NM_000677 exon2 c.T897C p.A299A 0.773562 0.7579 0.790020 0.8065 0.7683 Uncertain 1_112106444_G->A 1 112106444 112106444 G A snp 4276.77 1/1 99 163 0 163 1.0 intronic rs1591712 TMIGD3 AU NM_001302680 exon5 c.80159-23G>A 0.894768 0.9474 0.894828 0.9086 0.9347 Uncertain 1_112237915_A->T 1 112237915 112237915 A T snp 88.28 1/1 9 3 0 3 1.0 intronic rs7525307 RAP1A AU NM_001291896 exon3 c.3980-47A>T 0.322684 0.4375 0.293326 0.3599 0.4733 Uncertain 1_112239851_C->T 1 112239851 112239851 C T snp 52.74 1/1 6 2 0 2 1.0 intronic rs2365323 RAP1A AU NM_001291896 exon4 c.6080-211C>T 0.307508 0.4375 Uncertain 1_112251983_C->G 1 112251983 112251983 C G snp 5139.77 1/1 99 193 0 193 1.0 intronic rs3738300 RAP1A AU NM_001291896 exon7 c.17904+97C>G 0.322484 0.4375 Uncertain 1_112269872_G->A 1 112269872 112269872 G A snp 7881.77 1/1 99 250 0 250 1.0 exonic rs197434 FAM212B AU synonymous SNV NM_019099 exon2 c.C612T p.F204F 0.860623 0.8254 0.857450 0.8237 0.8253 Uncertain 1_112305407_A->- 1 112305407 112305407 A - indel 217.73 0/1 99 122 72 50 0.41 splicing rs752233854 DDX20 AU NM_007204 exon9 c.6858+3delA 0.4581 0.4650 Pathogenic 1_112539061_A->G 1 112539061 112539061 A G snp 2274.77 0/1 99 200 94 106 0.53 exonic rs2366125 LOC643355 AU nonsynonymous SNV NM_001270945 exon2 c.A304G p.I102V 0.34345 0.6002 0.2407 0.5303 Pathogenic 1_112991698_T->C 1 112991698 112991698 T C snp 1758.77 0/1 99 149 75 74 0.5 exonic rs2256883 CTTNBP2NL AU synonymous SNV NM_018704 exon4 c.T234C p.N78N 0.525359 0.4464 0.559127 0.5987 0.4277 Uncertain 1_112991862_G->T 1 112991862 112991862 G T snp 621.77 0/1 99 58 32 26 0.45 intronic rs3818729 CTTNBP2NL AU NM_018704 exon4 c.33007+68G>T 0.264976 0.5536 Uncertain 1_112999227_G->A 1 112999227 112999227 G A snp 4821.77 1/1 99 158 1 157 0.99 exonic rs1175641 CTTNBP2NL AU synonymous SNV NM_018704 exon6 c.G1113A p.Q371Q 0.939696 1 0.883054 0.8917 0.9984 Uncertain 1_113052155_C->G 1 113052155 113052155 C G snp 239.77 0/1 99 17 6 11 0.65 intronic rs3790605 WNT2B AU NM_024494 exon1 c.182+89C>G 0.260783 0.3968 Uncertain 1_113052186_G->C 1 113052186 113052186 G C snp 105.77 0/1 99 9 4 5 0.56 intronic rs3790606 WNT2B AU NM_024494 exon1 c.182+120G>C 0.260783 0.3988 Uncertain 1_113063125_A->G 1 113063125 113063125 A G snp 896.77 0/1 99 78 38 40 0.51 exonic rs910697 WNT2B AU synonymous SNV NM_001291880 exon5 c.A894G p.Q298Q 0.483427 0.6151 0.475780 0.4752 0.6507 Uncertain 1_113068577_C->T 1 113068577 113068577 C T snp 1805.77 0/1 99 157 81 76 0.48 UTR3 rs35147679 ST7L AU 0.227037 0.4266 Uncertain 1_113083439_C->T 1 113083439 113083439 C T snp 927.77 0/1 99 71 30 41 0.58 intronic rs10745330 ST7L AU NM_017744 exon2 c.15938-1133C>T 0.489816 0.6151 0.4333 0.6111 Uncertain 1_113093294_G->A 1 113093294 113093294 G A snp 1149.77 0/1 99 98 47 51 0.52 exonic rs190286242 ST7L AU nonsynonymous SNV NM_017744 exon13 c.C1418T p.P473L 0.000998403 0.004 0.0003 0.0034 0 D 1 D -0.916 T 1.0 D 0.999 D Pathogenic 1_113113194_C->T 1 113113194 113113194 C T snp 219.77 0/1 99 13 5 8 0.62 intronic rs60579835 ST7L AU NM_017744 exon5 c.50973-6413C>T 0.225439 0.4206 Uncertain 1_113140583_T->C 1 113140583 113140583 T C snp 866.77 0/1 99 69 35 34 0.49 intronic rs12049572 ST7L AU NM_017744 exon11 c.71958-9T>C 0.227236 0.4266 0.163079 0.2431 0.4675 Uncertain 1_113196197_A->- 1 113196197 113196197 A - indel 228.75 1/1 24 8 0 8 1.0 intronic rs397981271 CAPZA1 AU NM_006135 exon4 c.33753-22delA 0.143371 0.2222 0.4122 0.5259 Uncertain 1_113202417_G->A 1 113202417 113202417 G A snp 848.77 0/1 99 87 47 40 0.46 intronic rs2932536 CAPZA1 AU NM_006135 exon7 c.39935+16G>A 0.521965 0.372 0.525296 0.5246 0.3603 Uncertain 1_113202571_G->A 1 113202571 113202571 G A snp 82.77 0/1 99 7 3 4 0.57 intronic rs12120956 CAPZA1 AU NM_006135 exon7 c.39935+170G>A 0.235623 0.4375 Uncertain 1_113231503_G->T 1 113231503 113231503 G T snp 43.77 0/1 72 4 2 2 0.5 intronic rs12129649 MOV10 AU NM_001130079 exon3 c.14022-53G>T 0.128994 0.372 Uncertain 1_113234456_G->A 1 113234456 113234456 G A snp 989.77 0/1 99 117 77 40 0.34 intronic rs2932532 MOV10 AU NM_001130079 exon6 c.16887+35G>A 0.519569 0.371 0.522989 0.5107 0.3384 Uncertain 1_113236681_C->T 1 113236681 113236681 C T snp 1909.77 0/1 99 152 66 86 0.57 exonic rs3748656 MOV10 AU synonymous SNV NM_001130079 exon8 c.C1182T p.G394G 0.284744 0.5427 0.197832 0.2648 0.5689 Uncertain 1_113237171_A->G 1 113237171 113237171 A G snp 1303.77 0/1 99 135 79 56 0.41 exonic rs883593 MOV10 AU synonymous SNV NM_001130079 exon9 c.A1392G p.T464T 0.284744 0.5427 0.197294 0.2662 0.5717 Uncertain 1_113239382_G->A 1 113239382 113239382 G A snp 2295.77 0/1 99 184 83 101 0.55 exonic rs17030651 MOV10 AU synonymous SNV NM_001130079 exon14 c.G2112A p.E704E 0.234625 0.4425 0.167077 0.2842 0.5068 Uncertain 1_113239478_T->C 1 113239478 113239478 T C snp 3016.77 1/1 99 107 1 106 0.99 intronic rs2999158 MOV10 AU NM_001130079 exon14 c.21934+10T>C 0.80631 0.8442 0.729080 0.7382 0.8310 Uncertain 1_113240790_G->T 1 113240790 113240790 G T snp 643.77 0/1 99 42 22 20 0.48 intronic rs12133583 MOV10 AU NM_001130079 exon15 c.23199+57G>T 0.284744 0.5417 Uncertain 1_113241052_T->C 1 113241052 113241052 T C snp 1030.77 0/1 99 124 75 49 0.4 exonic rs2306940 MOV10 AU synonymous SNV NM_001130079 exon16 c.T2460C p.A820A 0.287141 0.5417 0.199370 0.2661 0.5702 Uncertain 1_113242488_C->T 1 113242488 113242488 C T snp 2109.77 0/1 99 204 107 97 0.48 intronic rs3013431 MOV10 AU NM_001130079 exon19 c.24981-27C>T 0.545727 0.369 0.582423 0.5664 0.3362 Uncertain 1_113243048_C->T 1 113243048 113243048 C T snp 2316.77 0/1 99 206 106 100 0.49 exonic rs6679 MOV10 AU synonymous SNV NM_001130079 exon21 c.C2931T p.S977S 0.283946 0.5407 0.199216 0.2649 0.5676 Uncertain 1_113244433_T->C 1 113244433 113244433 T C snp 2047.77 1/1 99 58 0 58 1.0 intronic rs2279500 RHOC AU NM_001042679 exon1 c.174+98T>C 0.89377 0.9107 Uncertain 1_113246229_T->A 1 113246229 113246229 T A snp 307.77 0/1 99 21 10 11 0.52 intronic rs937053 RHOC AU NM_001042679 exon4 c.2104-36T>A 0.473043 0.3026 0.525142 0.4978 0.2744 Uncertain 1_113246506_C->T 1 113246506 113246506 C T snp 74.77 0/1 99 10 6 4 0.4 intronic rs2306937 RHOC AU NM_001042679 exon4 c.2267+78C>T 0.228834 0.4425 Uncertain 1_113247563_G->A 1 113247563 113247563 G A snp 34.77 0/1 63 7 5 2 0.29 intronic rs2279499 RHOC AU NM_001042679 exon5 c.3560-158G>A 0.240615 0.4494 Uncertain 1_113248365_A->G 1 113248365 113248365 A G snp 413.77 0/1 99 20 8 12 0.6 intronic rs954679 RHOC AU NM_001042679 exon5 c.3629+575A>G 0.555911 0.3958 Uncertain 1_113254125_G->A 1 113254125 113254125 G A snp 468.77 0/1 99 29 10 19 0.66 intronic rs12040903 PPM1J AU NM_005167 exon5 c.1222+119G>A 0.21845 0.5188 0.1821 0.5588 Uncertain 1_113254484_A->G 1 113254484 113254484 A G snp 146.03 1/1 12 6 0 6 1.0 intronic rs4839258 PPM1J AU NM_005167 exon6 c.1808-108A>G 0.986422 1 Uncertain 1_113255389_C->T 1 113255389 113255389 C T snp 182.9 1/1 15 5 0 5 1.0 exonic rs10857971 PPM1J AU nonsynonymous SNV NM_005167 exon3 c.G706A p.V236I 0.967851 1 0.960864 0.9897 1 0.6 T 0.000 P -0.920 T 0.002 T 0.001 T Pathogenic 1_113256382_A->C 1 113256382 113256382 A C snp 225.77 0/1 99 11 4 7 0.64 intronic rs45492096 PPM1J AU NM_005167 exon9 c.3449+149A>C 0.470248 0.3879 Uncertain 1_113616382_-->A 1 113616382 113616382 - A indel 161.73 0/1 99 17 9 8 0.47 intronic rs397745555 LRIG2 AR NM_014813 exon1 c.239+115insA 0.391174 0.3095 Uncertain 1_113636924_T->C 1 113636924 113636924 T C snp 878.77 1/1 66 24 0 24 1.0 intronic rs1216802 LRIG2 AR NM_014813 exon5 c.20932-36T>C 0.847444 0.9514 0.863164 0.9558 0.9730 Uncertain 1_113638917_A->C 1 113638917 113638917 A C snp 2801.77 0/1 99 219 94 125 0.57 exonic rs760970098 LRIG2 AR nonsynonymous SNV NM_014813 exon8 c.A1021C p.N341H 8.237e-05 0.0012 0.56 T 1.000 D -1.035 T 0.028 T 0.056 T ID=COSM3704841;OCCURENCE=2(liver) Pathogenic 1_113641103_G->C 1 113641103 113641103 G C snp 54.74 1/1 6 2 0 2 1.0 intronic rs1216809 LRIG2 AR NM_014813 exon9 c.25298-223G>C 0.967452 1 Uncertain 1_113657092_A->C 1 113657092 113657092 A C snp 3564.77 1/1 99 122 0 122 1.0 exonic rs1216793 LRIG2 AR synonymous SNV NM_014813 exon15 c.A2124C p.T708T 0.901757 0.9504 0.903122 0.9633 0.9677 Uncertain 1_113658887_G->A 1 113658887 113658887 G A snp 684.77 0/1 99 47 22 25 0.53 intronic rs1216791 LRIG2 AR NM_014813 exon16 c.42880-21G>A 0.789936 0.9266 0.764570 0.8386 0.9484 Uncertain 1_113659066_CT->- 1 113659066 113659067 CT - indel 2308.73 0/1 99 119 60 59 0.5 intronic rs10541977 LRIG2 AR NM_014813 exon16 c.43030+8_43030+9delCT 0.789936 0.9266 0.764974 0.8386 0.9481 Uncertain 1_113662249_G->C 1 113662249 113662249 G C snp 442.77 0/1 99 27 13 14 0.52 intronic rs12568813 LRIG2 AR NM_014813 exon17 c.46117+104G>C 0.284744 0.3611 Uncertain 1_114133023_T->- 1 114133023 114133023 T - indel 279.74 1/1 27 9 0 9 1.0 intronic rs397981324 MAGI3 AU NM_152900 exon5 c.199450-82delT 0.663339 0.3601 Uncertain 1_114137013_-->AT 1 114137013 114137013 - AT indel 925.73 1/1 57 19 0 19 1.0 intronic rs3834733 MAGI3 AU NM_152900 exon6 c.203447-89insAT 0.663139 0.3552 Uncertain 1_114196364_T->G 1 114196364 114196364 T G snp 558.77 1/1 42 20 0 20 1.0 intronic rs2359174 MAGI3 AU NM_152900 exon15 c.262796-87T>G 0.195487 0.0942 Uncertain 1_114196495_A->G 1 114196495 114196495 A G snp 2235.77 1/1 99 79 0 79 1.0 exonic rs2359173 MAGI3 AU synonymous SNV NM_001142782 exon15 c.A2484G p.T828T 0.194289 0.0933 0.223820 0.2628 0.1040 Uncertain 1_114196674_C->A 1 114196674 114196674 C A snp 834.77 0/1 99 53 21 32 0.6 intronic MAGI3 AU NM_152900 exon15 c.262985+34C>A Uncertain 1_114201658_G->C 1 114201658 114201658 G C snp 977.77 1/1 72 28 0 28 1.0 intronic rs191466491 MAGI3 AU NM_152900 exon16 c.268046-43G>C 0.00399361 0.0188 0.0012 0.0159 Uncertain 1_114224782_-->T 1 114224782 114224782 - T indel 401.73 0/1 99 104 28 76 0.73 intronic rs11438160 MAGI3 AU NM_152900 exon21 c.291178-51insT 0.342652 0.252 Uncertain 1_114240319_-->A 1 114240319 114240319 - A indel 7405.73 1/1 99 177 0 177 1.0 UTR3 rs3835263 PHTF1 AU 0.678115 0.3631 0.785338 0.7078 0.3555 Uncertain 1_114242122_T->C 1 114242122 114242122 T C snp 309.78 1/1 24 9 0 9 1.0 intronic rs3752954 PHTF1 AU NM_006608 exon3 c.1999-203T>C 0.226637 0.246 Uncertain 1_114242250_C->T 1 114242250 114242250 C T snp 1529.77 1/1 99 56 0 56 1.0 intronic rs3752953 PHTF1 AU NM_006608 exon3 c.1999-75C>T 0.201078 0.0794 Uncertain 1_114249382_C->T 1 114249382 114249382 C T snp 2281.77 1/1 99 79 1 78 0.99 intronic rs6698586 PHTF1 AU NM_006608 exon8 c.9018+38C>T 0.679313 0.3958 0.778914 0.7056 0.3925 Uncertain 1_114267347_C->T 1 114267347 114267347 C T snp 2992.77 1/1 99 108 0 108 1.0 intronic rs1230640 PHTF1 AU NM_006608 exon13 c.27054-33C>T 0.703474 0.3958 0.805321 0.7164 0.3958 Uncertain 1_114280717_A->C 1 114280717 114280717 A C snp 2031.77 1/1 99 61 0 61 1.0 intronic rs2273758 PHTF1 AU NM_006608 exon15 c.40405-14A>C 0.557109 0.1667 0.662233 0.5787 0.1664 Uncertain 1_114339956_-->TAAA 1 114339956 114339956 - TAAA indel 2945.73 1/1 99 45 0 45 1.0 intronic rs34169583 RSBN1 AU NM_018364 exon6 c.31383-28insTAAA 0.701478 0.3968 0.790849 0.7063 0.3904 Uncertain 1_114354933_G->A 1 114354933 114354933 G A snp 6113.77 1/1 99 240 0 240 1.0 exonic rs192007948 RSBN1 AU synonymous SNV NM_018364 exon1 c.C102T p.D34D 0.00419329 0.0188 0.0012 0.0159 Uncertain 1_114372333_A->- 1 114372333 114372333 A - indel 297.73 1/1 36 20 0 20 1.0 splicing rs397981340 PTPN22 AR,AD,AU NM_001193431 exon4 c.14803+4delA 0.515375 0.3006 0.5438 0.4114 Pathogenic 1_114377093_A->G 1 114377093 114377093 A G snp 2484.77 1/1 99 82 0 82 1.0 ncRNA_intronic rs1599971 AP4B1-AS1 AU 0.701278 0.3948 0.802676 0.7161 0.3930 Uncertain 1_114377568_A->G 1 114377568 114377568 A G snp 3005.77 1/1 99 125 0 125 1.0 exonic rs2476601 PTPN22 AR,AD,AU nonsynonymous SNV NM_015967 exon14 c.T1858C p.W620R 0.972644 1 0.931647 0.9332 1 1 T 0.000 P -0.906 T 0.0 T 0.0 T CLINSIG=other|other|other|other|other;CLNDBN=Diabetes_mellitus\x2c_insulin-dependent\x2c_susceptibility_to|Rheumatoid_arthritis|Systemic_lupus_erythematosus\x2c_susceptibility_to|Hashimoto_thyroiditis\x2c_susceptibility_to|Addison_disease\x2c_susceptibility_to;CLNREVSTAT=no_assertion_criteria_provided|no_assertion_criteria_provided|no_assertion_criteria_provided|no_assertion_criteria_provided|no_assertion_criteria_provided;CLNACC=RCV000009460.1|RCV000009461.1|RCV000009462.1|RCV000009463.1|RCV000009464.1;CLNDSDB=.|MedGen:OMIM:SNOMED_CT|.|.|.;CLNDSDBID=.|C0003873:180300:69896004|.|.|. ID=CM041826;DIS=Rheumatoid arthritis, association with;TAG=DFP;PUB=15208781 DFP Pathogenic 1_114401231_A->G 1 114401231 114401231 A G snp 471.77 1/1 36 18 0 18 1.0 ncRNA_intronic rs1217418 AP4B1-AS1 AU 0.515375 0.1706 0.591826 0.5884 0.2334 Uncertain 1_114401904_T->G 1 114401904 114401904 T G snp 645.77 1/1 48 21 0 21 1.0 ncRNA_intronic rs1217419 AP4B1-AS1 AU 0.511981 0.1706 Uncertain 1_114424601_C->T 1 114424601 114424601 C T snp 1807.77 1/1 99 69 0 69 1.0 exonic rs1217381 BCL2L15 AU nonsynonymous SNV NM_001010922 exon3 c.G268A p.D90N 0.999401 1 0.999846 0.9999 1 0.98 T 0.0 P -0.919 T 0.001 T 0.002 T Pathogenic 1_114472218_A->G 1 114472218 114472218 A G snp 731.77 1/1 54 23 0 23 1.0 intronic rs1217441 HIPK1 AU 0.78734 0.8611 Uncertain 1_114508685_A->G 1 114508685 114508685 A G snp 3313.77 1/1 99 119 0 119 1.0 intronic rs72691850 HIPK1 AU NM_181358 exon9 c.11497-66A>G 0.0277556 0.0198 Uncertain 1_114512939_A->T 1 114512939 114512939 A T snp 1160.77 1/1 84 38 0 38 1.0 intronic rs3811018 HIPK1 AU NM_181358 exon12 c.15565+120A>T 0.788738 0.8611 Uncertain 1_114515717_G->A 1 114515717 114515717 G A snp 6136.77 1/1 99 224 0 224 1.0 exonic rs2358996 HIPK1 AU synonymous SNV NM_181358 exon14 c.G2034A p.A678A 0.486222 0.5238 0.447640 0.4156 0.4866 1.0 P -0.988 T Likely benign 1_114641685_A->G 1 114641685 114641685 A G snp 1970.77 1/1 99 67 0 67 1.0 intronic rs2774285 SYT6 AU NM_205848 exon4 c.5308-30A>G 0.857827 0.9325 0.814086 0.7975 0.9239 Uncertain 1_114940633_A->- 1 114940633 114940633 A - indel 466.06 1/1 11 36 5 31 0.86 intronic rs397981357 TRIM33 AU NM_015906 exon2 c.343+21delA 0.696685 0.7202 0.5981 0.6319 Uncertain 1_114947935_G->A 1 114947935 114947935 G A snp 344.78 1/1 27 9 0 9 1.0 intronic rs1230795 TRIM33 AU NM_015906 exon6 c.7762-96G>A 1 1 Uncertain 1_114948281_A->G 1 114948281 114948281 A G snp 7421.77 1/1 99 250 0 250 1.0 exonic rs6537825 TRIM33 AU nonsynonymous SNV NM_015906 exon15 c.T2519C p.I840T 0.85643 0.5823 0.942334 0.8921 0.6074 1 T 0.000 P -1.066 T 0.0 T 0.0 T Pathogenic 1_115128087_A->G 1 115128087 115128087 A G snp 50.74 1/1 6 2 0 2 1.0 UTR3 rs222493 DENND2C AU 0.828275 0.5159 Uncertain 1_115144703_A->G 1 115144703 115144703 A G snp 7231.77 1/1 99 250 0 250 1.0 intronic rs28398 DENND2C AU NM_198459 exon10 c.16525-42A>G 0.998403 1 0.992465 0.9939 1 Uncertain 1_115165472_T->A 1 115165472 115165472 T A snp 222.84 1/1 18 6 0 6 1.0 intronic rs222502 DENND2C AU NM_198459 exon15 c.37387-135T>A 0.828474 0.5169 Uncertain 1_115218413_G->A 1 115218413 115218413 G A snp 1568.77 1/1 99 52 0 52 1.0 intronic rs2070986 AMPD1 AR NM_000036 exon6 c.2763-84G>A 0.275958 0.3899 Uncertain 1_115220421_TCCT->- 1 115220421 115220424 TCCT - indel 779.73 1/1 42 14 0 14 1.0 intronic rs543962875 AMPD1 AR NM_000036 exon8 c.4796-109_4796-106delTCCT 0.670927 0.87 Uncertain 1_115222434_G->A 1 115222434 115222434 G A snp 216.84 1/1 18 7 0 7 1.0 intronic rs761755 AMPD1 AR NM_000036 exon10 c.6595+105G>A 0.825879 0.504 Uncertain 1_115238017_A->- 1 115238017 115238017 A - indel 452.73 1/1 52 25 2 23 0.92 intronic rs397981383 AMPD1 AR NM_000036 exon16 c.22336-53delA 0.538339 0.4712 Uncertain 1_115256669_G->A 1 115256669 115256669 G A snp 837.77 1/1 63 23 0 23 1.0 intronic rs969273 NRAS AU,AD NM_002524 exon5 c.5444+70G>A 0.8752 0.999 Uncertain 1_115398045_C->- 1 115398045 115398045 C - indel 1404.73 1/1 99 41 0 41 1.0 intronic rs397981387 SYCP1 AU 0.9998 1 0.992649 0.9997 1 Uncertain 1_115399940_T->G 1 115399940 115399940 T G snp 434.77 0/1 99 27 9 18 0.67 intronic rs360614 SYCP1 AU NM_003176 exon4 c.1811+44T>G 0.330871 0.5258 0.343255 0.3876 0.5005 Uncertain 1_115401136_G->A 1 115401136 115401136 G A snp 314.78 1/1 24 11 0 11 1.0 intronic rs360615 SYCP1 AU NM_003176 exon6 c.3082-31G>A 0.98722 1 0.987455 0.9966 1 Uncertain 1_115420905_T->C 1 115420905 115420905 T C snp 322.77 0/1 99 47 30 17 0.36 intronic rs360636 SYCP1 AU NM_003176 exon12 c.22738+82T>C 0.333267 0.5129 Uncertain 1_115524216_C->T 1 115524216 115524216 C T snp 150.77 0/1 99 8 3 5 0.63 intronic rs12026343 SYCP1 AU NM_003176 exon29 c.126048+83C>T 0.360623 0.5298 Uncertain 1_115576023_A->G 1 115576023 115576023 A G snp 6035.77 1/1 99 225 0 225 1.0 exonic rs10776792 TSHB AR nonsynonymous SNV NM_000549 exon2 c.A40G p.T14A 0.983626 1 0.975242 0.9707 1 1 T 0.0 P -1.039 T 0.0 T 0.0 T ID=CM991218;DIS=Hypothyroidism;TAG=DM?;PUB=10411113 DM? Pathogenic 1_115576482_C->G 1 115576482 115576482 C G snp 507.77 0/1 99 37 18 19 0.51 intronic rs28566771 TSHB AR NM_000549 exon3 c.610-111C>G 0.438898 0.5278 Uncertain 1_115601615_A->G 1 115601615 115601615 A G snp 4402.77 1/1 99 159 1 158 0.99 intronic rs7523818 TSPAN2 AU NM_005725 exon4 c.8492+13A>G 0.965655 1 0.934107 0.9350 1 Uncertain 1_115604681_A->G 1 115604681 115604681 A G snp 72.77 0/1 99 38 30 8 0.21 intronic rs11102881 TSPAN2 AU NM_005725 exon6 c.11645-74A>G 0.320088 0.4921 Uncertain 1_115604798_C->T 1 115604798 115604798 C T snp 1260.77 0/1 99 152 92 60 0.39 exonic rs10776795 TSPAN2 AU synonymous SNV NM_005725 exon3 c.G228A p.G76G 0.320088 0.4921 0.292615 0.3422 0.4809 Uncertain 1_115631924_C->T 1 115631924 115631924 C T snp 1254.77 1/1 90 48 0 48 1.0 intronic rs4240540 TSPAN2 AU NM_005725 exon8 c.38874-60C>T 0.973043 1 Uncertain 1_115829313_G->A 1 115829313 115829313 G A snp 3080.77 0/1 99 247 116 131 0.53 exonic rs6330 NGF AR nonsynonymous SNV NM_002506 exon3 c.C104T p.A35V 0.247404 0.1637 0.369137 0.3656 0.1670 0.03 T 0.746 P -1.002 T 0.002 T 0.003 T ID=CM086294;DIS=Anxiety-related traits, gender-dependent, association with;TAG=DFP;PUB=18763222 DFP Pathogenic 1_116206951_C->G 1 116206951 116206951 C G snp 125.78 0/1 27 5 1 4 0.8 intronic rs12739928 VANGL1 AD NM_001172411 exon4 c.12855+62C>G 0.114417 0.1022 Uncertain 1_116224925_G->A 1 116224925 116224925 G A snp 2681.77 1/1 99 88 0 88 1.0 intronic rs10923176 VANGL1 AD NM_001172411 exon5 c.30950-59G>A 0.677915 0.7202 Uncertain 1_116224940_C->A 1 116224940 116224940 C A snp 3540.77 1/1 99 116 0 116 1.0 intronic rs10754330 VANGL1 AD NM_001172411 exon5 c.30950-44C>A 0.678315 0.7202 0.634323 0.6803 0.7205 Uncertain 1_116225180_A->C 1 116225180 116225180 A C snp 3159.77 1/1 99 94 0 94 1.0 intronic rs10923177 VANGL1 AD NM_001172411 exon5 c.31084+62A>C 0.680511 0.7202 Uncertain 1_116226459_C->T 1 116226459 116226459 C T snp 216.84 1/1 18 6 0 6 1.0 intronic rs12144356 VANGL1 AD NM_001172411 exon6 c.32530-105C>T 0.696286 0.7202 Uncertain 1_116228220_C->T 1 116228220 116228220 C T snp 1199.77 1/1 87 36 0 36 1.0 intronic rs12145661 VANGL1 AD NM_001172411 exon7 c.34114+72C>T 0.594649 0.7163 Uncertain 1_116245381_G->T 1 116245381 116245381 G T snp 48.74 1/1 6 2 0 2 1.0 intronic rs3934652 CASQ2 AR NM_001232 exon2 c.1680-160G>T 0.134984 0.2302 Uncertain 1_116245761_G->- 1 116245761 116245761 G - indel 654.73 0/1 99 50 29 21 0.42 intronic rs141002491 CASQ2 AR NM_001232 exon2 c.1755+145delG 0.0103834 0.0516 Uncertain 1_116245809_C->T 1 116245809 116245809 C T snp 477.77 1/1 36 14 0 14 1.0 intronic rs6667224 CASQ2 AR NM_001232 exon2 c.1755+193C>T 0.626797 0.7163 Uncertain 1_116247790_G->A 1 116247790 116247790 G A snp 1222.77 1/1 90 43 1 42 0.98 intronic rs3811003 CASQ2 AR NM_001232 exon3 c.3951-22G>A 0.428714 0.5198 0.401199 0.3486 0.5152 Uncertain 1_116260532_A->T 1 116260532 116260532 A T snp 3274.77 1/1 99 120 0 120 1.0 intronic rs2997741 CASQ2 AR NM_001232 exon4 c.16654+17A>T 0.642772 0.6706 0.599262 0.5802 0.6451 Uncertain 1_116260604_G->A 1 116260604 116260604 G A snp 1240.77 1/1 90 41 0 41 1.0 intronic rs2997742 CASQ2 AR NM_001232 exon4 c.16654+89G>A 0.630591 0.6706 Uncertain 1_116268283_C->T 1 116268283 116268283 C T snp 56.74 1/1 6 2 0 2 1.0 intronic rs4475752 CASQ2 AR NM_001232 exon5 c.24313+109C>T 0.567292 0.6706 Uncertain 1_116283343_A->G 1 116283343 116283343 A G snp 2809.77 1/1 99 106 0 106 1.0 splicing rs9428083 CASQ2 AR NM_001232 exon9 c.39487-5A>G 0.64357 0.7431 0.708442 0.7872 0.7627 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000037139.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 1_116283526_G->A 1 116283526 116283526 G A snp 2035.77 1/1 99 67 1 66 0.99 intronic rs7538337 CASQ2 AR NM_001232 exon9 c.39588+77G>A 0.64357 0.7421 Uncertain 1_116287305_C->T 1 116287305 116287305 C T snp 129.03 1/1 12 4 0 4 1.0 intronic rs10127797 CASQ2 AR NM_001232 exon10 c.43587-143C>T 0.299321 0.4296 Uncertain 1_116287634_A->G 1 116287634 116287634 A G snp 1635.77 1/1 87 52 1 51 0.98 intronic rs10801969 CASQ2 AR NM_001232 exon10 c.43672+101A>G 0.299521 0.4296 Uncertain 1_116287651_G->A 1 116287651 116287651 G A snp 1230.77 1/1 90 36 0 36 1.0 intronic rs10801970 CASQ2 AR NM_001232 exon10 c.43672+118G>A 0.299521 0.4296 Uncertain 1_116310818_G->C 1 116310818 116310818 G C snp 1349.77 1/1 99 37 0 37 1.0 intronic rs4484922 CASQ2 AR NM_001232 exon11 c.67067-110G>C 0.401757 0.5159 Uncertain 1_116310967_T->C 1 116310967 116310967 T C snp 7085.77 1/1 99 250 0 250 1.0 exonic rs4074536 CASQ2 AR nonsynonymous SNV NM_001232 exon1 c.A196G p.T66A 0.401158 0.5159 0.339382 0.3265 0.5483 0.93 T 0.0 P -0.939 T 0.0 T 0.0 T CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_multiple_submitters\x2c_no_conflicts;CLNACC=RCV000037136.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 ID=CM108210;DIS=QRS interval, association with;TAG=DP;PUB=21076409 DP Pathogenic 1_116311198_T->C 1 116311198 116311198 T C snp 1110.77 1/1 81 38 0 38 1.0 UTR5 rs4074537 CASQ2 AR 0.96246 1 0.957077 0.9878 1 Uncertain 1_116534852_C->T 1 116534852 116534852 C T snp 709.77 0/1 99 61 29 32 0.52 exonic rs4046190 SLC22A15 AU synonymous SNV NM_018420 exon2 c.C288T p.S96S 0.435304 0.4196 0.486248 0.5994 0.4712 Uncertain 1_116534952_G->T 1 116534952 116534952 G T snp 152.77 0/1 99 14 8 6 0.43 intronic rs10923941 SLC22A15 AU NM_018420 exon2 c.15616+88G>T 0.260982 0.4514 Uncertain 1_116534953_C->T 1 116534953 116534953 C T snp 142.77 0/1 99 13 7 6 0.46 intronic rs10923942 SLC22A15 AU NM_018420 exon2 c.15616+89C>T 0.260982 0.4514 Uncertain 1_116569530_G->C 1 116569530 116569530 G C snp 981.77 1/1 72 31 0 31 1.0 exonic rs2488429 SLC22A15 AU synonymous SNV NM_018420 exon5 c.G615C p.L205L 0.903355 0.874 0.927104 0.9283 0.8953 Uncertain 1_116577981_G->A 1 116577981 116577981 G A snp 1606.77 1/1 99 48 0 48 1.0 intronic rs1935828 SLC22A15 AU NM_018420 exon7 c.58700+33G>A 0.960264 1 0.964093 0.9882 1 Uncertain 1_116607254_G->T 1 116607254 116607254 G T snp 882.77 1/1 66 23 0 23 1.0 intronic rs1281748 SLC22A15 AU NM_018420 exon10 c.87881+125G>T 0.982029 1 Uncertain 1_116609127_C->- 1 116609127 116609127 C - indel 5811.73 1/1 99 151 0 151 1.0 intronic rs3833541 SLC22A15 AU NM_018420 exon11 c.89892-13delC 0.624869 0.7516 0.7867 Uncertain 1_116916056_C->T 1 116916056 116916056 C T snp 2023.77 0/1 99 128 42 86 0.67 UTR5 rs11540947 ATP1A1 AU 0.217652 0.0813 0.1535 0.0896 Uncertain 1_116926433_G->A 1 116926433 116926433 G A snp 123.78 0/1 25 5 1 4 0.8 intronic rs10924075 ATP1A1 AU NM_001160233 exon2 c.9784-202G>A 0.0942492 0.0298 Uncertain 1_116931225_G->A 1 116931225 116931225 G A snp 1229.77 0/1 99 94 43 51 0.54 intronic rs10924077 ATP1A1 AU NM_001160233 exon6 c.14408-34G>A 0.145367 0.0427 0.132247 0.0522 0.0457 Uncertain 1_116931507_C->T 1 116931507 116931507 C T snp 2005.77 0/1 99 157 79 78 0.5 intronic rs12079355 ATP1A1 AU NM_001160233 exon7 c.14672-16C>T 0.127995 0.0427 0.115639 0.0473 0.0457 Uncertain 1_116931628_C->A 1 116931628 116931628 C A snp 858.77 0/1 99 77 39 38 0.49 exonic rs12079419 ATP1A1 AU synonymous SNV NM_000701 exon7 c.C741A p.T247T 0.135583 0.0427 0.123020 0.0494 0.0458 Uncertain 1_116931953_T->C 1 116931953 116931953 T C snp 46.77 0/1 33 3 1 2 0.67 intronic rs12082964 ATP1A1 AU NM_001160233 exon8 c.15209-107T>C 0.0591054 0.0298 Uncertain 1_116933372_G->A 1 116933372 116933372 G A snp 2575.77 0/1 99 241 132 109 0.45 intronic rs12130872 ATP1A1 AU NM_001160233 exon10 c.16552-31G>A 0.220447 0.0427 0.212748 0.0905 0.0458 Uncertain 1_116940381_G->A 1 116940381 116940381 G A snp 249.77 0/1 99 19 11 8 0.42 ncRNA_intronic rs55634679 ATP1A1-AS1 AU 0.0593051 0.0298 Uncertain 1_116943451_-->TTC 1 116943451 116943451 - TTC indel 1849.73 0/1 99 80 42 38 0.47 ncRNA_intronic rs112204234 ATP1A1-AS1 AU 0.145823 0.0555 0.0456 Uncertain 1_116947051_G->A 1 116947051 116947051 G A snp 1473.77 0/1 99 123 64 59 0.48 exonic rs9567 ATP1A1 AU synonymous SNV NM_000701 exon23 c.G3057A p.K1019K 0.0591054 0.0298 0.051361 0.0263 0.0327 Uncertain 1_116952787_C->T 1 116952787 116952787 C T snp 1961.77 0/1 99 202 114 88 0.44 ncRNA_intronic rs1885802 ATP1A1-AS1 AU 0.255791 0.0427 0.0751 0.0412 Uncertain 1_117102649_C->T 1 117102649 117102649 C T snp 803.77 1/1 57 33 0 33 1.0 intronic rs1414273 CD58 AU NM_001779 exon6 c.56090-10875C>T 0.428115 0.5853 0.5 . Uncertain 1_117121865_G->A 1 117121865 117121865 G A snp 1006.77 0/1 99 61 26 35 0.57 intronic rs12066192 IGSF3 AR NM_001542 exon2 c.2080-148G>A 0.382388 0.0754 Uncertain 1_117122130_T->C 1 117122130 117122130 T C snp 2274.77 0/1 99 231 133 98 0.42 exonic rs6703791 IGSF3 AR nonsynonymous SNV NM_001542 exon10 c.A3278G p.Q1093R 0.344249 0.5169 0.239505 0.2577 0.5219 0.52 T 0.0 P -0.995 T 0.0 T 0.0 T Pathogenic 1_117122285_-->TCC 1 117122285 117122285 - TCC indel 3201.73 0/1 99 179 79 100 0.56 exonic rs576658823 IGSF3 AR nonframeshift insertion NM_001542 exon10 c.3122_3123insGGA p.D1041delinsED 0.245607 0.1022 0.2508 0.1026 Uncertain 1_117122288_G->C 1 117122288 117122288 G C snp 2379.77 0/1 99 174 75 99 0.57 exonic rs647711 IGSF3 AR nonsynonymous SNV NM_001542 exon10 c.C3120G p.D1040E 0.261581 0.1101 0.236199 0.2949 0.1134 0.83 T 0.0 P -0.902 T 0.0 T 0.0 T Pathogenic 1_117142531_G->A 1 117142531 117142531 G A snp 1076.77 1/1 78 36 1 35 0.97 intronic rs631461 IGSF3 AR NM_001542 exon5 c.22629-31G>A 0.691094 0.5635 0.624154 0.6012 0.5303 Uncertain 1_117142583_T->A 1 117142583 117142583 T A snp 178.77 0/1 99 79 61 18 0.23 exonic rs74624405 IGSF3 AR nonsynonymous SNV NM_001542 exon7 c.A2069T p.E690V 6.702e-05 0 0.12 T 0.999 D -1.090 T 1.0 D 0.999 D Pathogenic 1_117142613_C->T 1 117142613 117142613 C T snp 569.77 0/1 99 114 77 37 0.32 exonic rs76151115 IGSF3 AR nonsynonymous SNV NM_001542 exon7 c.G2039A p.R680Q 0.0437 0.0536 0.39 T 0.840 D -0.649 T 0.986 D 0.476 D Pathogenic 1_117142641_G->A 1 117142641 117142641 G A snp 278.77 0/1 99 153 127 26 0.17 exonic rs76417519 IGSF3 AR nonsynonymous SNV NM_001542 exon7 c.C2011T p.R671W 0.0343 0.0326 0.02 T 1.000 D -1.070 T 1.0 D 1.0 D Pathogenic 1_117142700_C->A 1 117142700 117142700 C A snp 432.77 0/1 99 200 166 34 0.17 exonic rs75947003 IGSF3 AR nonsynonymous SNV NM_001542 exon7 c.G1952T p.S651I 0.0016 0.0016 0.09 T 1.000 D -1.117 T 1.0 D 0.999 D Pathogenic 1_117142736_A->G 1 117142736 117142736 A G snp 1834.77 0/1 99 190 102 88 0.46 exonic rs138851517 IGSF3 AR nonsynonymous SNV NM_001542 exon7 c.T1916C p.I639T 0.00199681 0.001 0.0005 0.0007 0.08 T 1.000 D -1.039 T 0.3 T 0.164 T Pathogenic 1_117142855_C->T 1 117142855 117142855 C T snp 1130.77 0/1 99 128 77 51 0.4 exonic rs61786568 IGSF3 AR synonymous SNV NM_001542 exon7 c.G1797A p.S599S 0.000798722 0.000384 0.0003 0.0002 Uncertain 1_117142868_C->T 1 117142868 117142868 C T snp 1027.77 0/1 99 122 75 47 0.39 exonic rs61730489 IGSF3 AR stopgain NM_001542 exon7 c.G1784A p.W595X 0.03 T 1 A Pathogenic 1_117142869_A->G 1 117142869 117142869 A G snp 1049.77 0/1 99 122 75 47 0.39 exonic rs78806598 IGSF3 AR nonsynonymous SNV NM_001542 exon7 c.T1783C p.W595R 0.000077 2.489e-05 0 0.53 T 0.998 N -0.932 T 0.0 T 0.006 T Pathogenic 1_117142977_A->G 1 117142977 117142977 A G snp 366.77 0/1 99 39 21 18 0.46 intronic rs138030652 IGSF3 AR NM_001542 exon5 c.23034+10A>G 0.0004 0.0005 Uncertain 1_117146423_C->T 1 117146423 117146423 C T snp 209.77 0/1 99 185 153 32 0.17 exonic IGSF3 AR nonsynonymous SNV NM_001542 exon6 c.G1507A p.G503S 0.4 T 1.000 D -0.972 T 0.968 D 0.674 D Pathogenic 1_117146504_G->A 1 117146504 117146504 G A snp 1181.77 0/1 99 217 130 87 0.4 exonic rs61786577 IGSF3 AR nonsynonymous SNV NM_001542 exon6 c.C1426T p.R476C 8.361e-06 0 0.02 T 1 D -0.584 T 1.0 D 1.0 D Pathogenic 1_117146563_G->A 1 117146563 117146563 G A snp 1327.77 0/1 99 173 90 83 0.48 exonic rs61786578 IGSF3 AR nonsynonymous SNV NM_001542 exon6 c.C1367T p.T456M 1.683e-05 0 0.18 T 0.998 D -0.468 T 0.85 T 0.293 P Pathogenic 1_117146571_A->G 1 117146571 117146571 A G snp 1155.77 0/1 99 158 85 73 0.46 exonic rs61786579 IGSF3 AR synonymous SNV NM_001542 exon6 c.T1359C p.S453S Uncertain 1_117146585_G->A 1 117146585 117146585 G A snp 437.77 0/1 99 135 102 33 0.24 exonic IGSF3 AR nonsynonymous SNV NM_001542 exon6 c.C1345T p.R449C 0.04 T 0.996 D -0.761 T 0.987 D 0.79 D ID=COSM1333075,COSM1333076;OCCURENCE=1(large_intestine) Pathogenic 1_117146592_C->G 1 117146592 117146592 C G snp 960.77 0/1 99 125 67 58 0.46 exonic rs532709767 IGSF3 AR nonsynonymous SNV NM_001542 exon6 c.G1338C p.E446D 0.27 T 0.995 D -0.880 T 0.004 T 0.014 T Pathogenic 1_117146629_T->C 1 117146629 117146629 T C snp 492.77 0/1 99 67 37 30 0.45 exonic IGSF3 AR nonsynonymous SNV NM_001542 exon6 c.A1301G p.E434G 0.26 T 0.973 D -0.646 T 0.739 T 0.403 P Pathogenic 1_117150617_A->G 1 117150617 117150617 A G snp 133.77 0/1 99 144 119 25 0.17 exonic rs61786588 IGSF3 AR nonsynonymous SNV NM_001542 exon4 c.T1169C p.I390T 9.087e-05 0.0002 0.39 T 1.000 D -0.704 T 0.999 D 0.984 D Pathogenic 1_117150628_G->C 1 117150628 117150628 G C snp 131.77 0/1 99 154 128 26 0.17 exonic rs79475403 IGSF3 AR synonymous SNV NM_001542 exon4 c.C1158G p.T386T Uncertain 1_117150736_C->G 1 117150736 117150736 C G snp 734.77 0/1 99 206 144 62 0.3 exonic rs61786589 IGSF3 AR nonsynonymous SNV NM_001542 exon4 c.G1050C p.K350N 0.1 T 0.955 N -1.150 T 0.018 T 0.024 T Pathogenic 1_117150928_C->T 1 117150928 117150928 C T snp 1483.77 0/1 99 114 52 62 0.54 exonic rs150982249 IGSF3 AR synonymous SNV NM_001542 exon4 c.G858A p.E286E Uncertain 1_117150933_G->A 1 117150933 117150933 G A snp 1436.77 0/1 99 111 49 62 0.56 exonic rs115837117 IGSF3 AR synonymous SNV NM_001542 exon4 c.C853T p.L285L Uncertain 1_117150966_G->T 1 117150966 117150966 G T snp 916.77 0/1 99 62 25 37 0.6 intronic rs79107296 IGSF3 AR NM_001542 exon8 c.31020+13G>T Uncertain 1_117151023_G->T 1 117151023 117151023 G T snp 376.77 0/1 99 42 26 16 0.38 intronic IGSF3 AR NM_001542 exon8 c.31020+70G>T Uncertain 1_117151062_C->T 1 117151062 117151062 C T snp 255.77 0/1 99 16 6 10 0.63 intronic rs78660628 IGSF3 AR NM_001542 exon8 c.31020+109C>T Uncertain 1_117151066_G->A 1 117151066 117151066 G A snp 181.77 0/1 99 13 6 7 0.54 intronic rs79155130 IGSF3 AR NM_001542 exon8 c.31020+113G>A 0.000199681 0.001 Uncertain 1_117151079_G->A 1 117151079 117151079 G A snp 105.77 0/1 99 8 4 4 0.5 intronic rs74866769 IGSF3 AR NM_001542 exon8 c.31020+126G>A 0.000599042 Uncertain 1_117151085_A->G 1 117151085 117151085 A G snp 106.77 0/1 97 7 3 4 0.57 intronic rs78995719 IGSF3 AR NM_001542 exon8 c.31020+132A>G 0.000599042 Uncertain 1_117151091_A->T 1 117151091 117151091 A T snp 66.77 0/1 69 5 2 3 0.6 intronic IGSF3 AR NM_001542 exon8 c.31020+138A>T Uncertain 1_117156326_C->T 1 117156326 117156326 C T snp 393.77 0/1 99 64 38 26 0.41 intronic rs201074598 IGSF3 AR NM_001542 exon9 c.36453-60C>T Uncertain 1_117156333_T->C 1 117156333 117156333 T C snp 448.77 0/1 99 71 42 29 0.41 intronic rs202116033 IGSF3 AR NM_001542 exon9 c.36453-53T>C Uncertain 1_117156340_C->T 1 117156340 117156340 C T snp 524.77 0/1 99 78 45 33 0.42 intronic rs200526371 IGSF3 AR NM_001542 exon9 c.36453-46C>T Uncertain 1_117156459_C->T 1 117156459 117156459 C T snp 1415.77 0/1 99 140 71 69 0.49 exonic rs61786651 IGSF3 AR nonsynonymous SNV NM_001542 exon3 c.G760A p.D254N 0.01 T 1 D -1.002 T 1.0 D 1.0 D Pathogenic 1_117156490_T->C 1 117156490 117156490 T C snp 1365.77 0/1 99 122 59 63 0.52 exonic rs61786652 IGSF3 AR synonymous SNV NM_001542 exon3 c.A729G p.E243E 0.0002 0 Uncertain 1_117156584_T->C 1 117156584 117156584 T C snp 686.77 0/1 99 103 66 37 0.36 exonic rs143106517 IGSF3 AR nonsynonymous SNV NM_001542 exon3 c.A635G p.Q212R 8.272e-06 0 0.14 T 1.000 D -0.888 T 0.453 P 0.573 P Pathogenic 1_117156585_G->A 1 117156585 117156585 G A snp 653.77 0/1 99 102 66 36 0.35 exonic rs139013364 IGSF3 AR stopgain NM_001542 exon3 c.C634T p.Q212X 8.27e-06 0 0.23 T 1 A Pathogenic 1_117156600_T->C 1 117156600 117156600 T C snp 561.77 0/1 99 103 71 32 0.31 exonic rs547741844 IGSF3 AR nonsynonymous SNV NM_001542 exon3 c.A619G p.S207G 1.65e-05 0 1 T 0.729 D -0.907 T 0.001 T 0.004 T Pathogenic 1_117487710_A->G 1 117487710 117487710 A G snp 3463.77 1/1 99 118 0 118 1.0 exonic rs10159095 PTGFRN AU synonymous SNV NM_020440 exon3 c.A828G p.P276P 0.859425 0.8452 0.644802 0.8916 0.8467 Uncertain 1_117487711_T->A 1 117487711 117487711 T A snp 3428.77 1/1 99 116 0 116 1.0 exonic rs4546904 PTGFRN AU nonsynonymous SNV NM_020440 exon3 c.T829A p.S277T 0.859425 0.8452 0.640363 0.8916 0.8464 1 T 0.000 P -0.918 T 0.0 T 0.001 T Pathogenic 1_117487884_G->A 1 117487884 117487884 G A snp 178.9 1/1 15 5 0 5 1.0 intronic rs10923173 PTGFRN AU NM_020440 exon3 c.34889+170G>A 0.66893 0.7966 Uncertain 1_117503940_G->A 1 117503940 117503940 G A snp 7239.77 1/1 99 243 0 243 1.0 exonic rs34625170 PTGFRN AU nonsynonymous SNV NM_020440 exon5 c.G1289A p.R430Q 0.122204 0.3839 0.027603 0.0725 0.3992 0.48 T 0.561 P -0.963 T 0.313 T 0.028 T Pathogenic 1_117527646_TCT->- 1 117527646 117527648 TCT - indel 3429.73 1/1 99 75 0 75 1.0 intronic rs36119404 PTGFRN AU NM_020440 exon8 c.74782+39_74782+41delTCT 0.380591 0.4514 0.354986 0.3103 0.4619 Uncertain 1_117529458_G->A 1 117529458 117529458 G A snp 6182.77 1/1 99 237 0 237 1.0 exonic rs10801922 PTGFRN AU nonsynonymous SNV NM_020440 exon9 c.G2509A p.V837I 0.498003 0.6597 0.400046 0.4911 0.6637 0.84 T 0.000 P -0.933 T 0.005 T 0.003 T Pathogenic 1_117555898_G->A 1 117555898 117555898 G A snp 384.77 1/1 30 13 0 13 1.0 intronic rs2764849 CD101 AU NM_004258 exon4 c.11588-129G>A 0.992412 1 Uncertain 1_117559598_C->A 1 117559598 117559598 C A snp 694.77 1/1 54 21 0 21 1.0 intronic rs60689130 CD101 AU NM_004258 exon5 c.15272-113C>A 0.127396 0.4117 Uncertain 1_117559726_A->G 1 117559726 117559726 A G snp 4090.77 1/1 99 140 0 140 1.0 exonic rs2249265 CD101 AU nonsynonymous SNV NM_001256106 exon5 c.A1243G p.M415V 0.935304 0.8462 0.975088 0.9518 0.8401 1 T 0.0 P -1.053 T 0.0 T 0.0 T Pathogenic 1_117560818_A->G 1 117560818 117560818 A G snp 1880.77 1/1 99 60 0 60 1.0 exonic rs3736908 CD101 AU synonymous SNV NM_001256106 exon6 c.A1653G p.Q551Q 0.344449 0.6181 0.210057 0.3397 0.6094 Uncertain 1_117602960_C->A 1 117602960 117602960 C A snp 3641.77 1/1 99 128 0 128 1.0 UTR5 rs2244501 TTF2 AU 0.732628 0.9018 0.729509 0.8186 0.8799 Uncertain 1_117603188_G->T 1 117603188 117603188 G T snp 1414.77 1/1 99 43 0 43 1.0 intronic rs2244406 TTF2 AU NM_003594 exon2 c.211+9G>T 0.716254 0.9415 0.634092 0.7013 0.9302 Uncertain 1_117617705_A->G 1 117617705 117617705 A G snp 5959.77 1/1 99 197 1 196 0.99 exonic rs998532 TTF2 AU nonsynonymous SNV NM_003594 exon5 c.A499G p.K167E 0.514577 0.7679 0.469322 0.5755 0.7424 0.08 T 0.0 P -0.932 T 0.208 T 0.063 T Pathogenic 1_117618067_C->T 1 117618067 117618067 C T snp 5086.77 1/1 99 188 0 188 1.0 exonic rs1289673 TTF2 AU synonymous SNV NM_003594 exon5 c.C861T p.N287N 0.513778 0.7679 0.468553 0.5747 0.7417 Uncertain 1_117618722_T->C 1 117618722 117618722 T C snp 560.77 1/1 42 20 0 20 1.0 intronic rs1289672 TTF2 AU NM_003594 exon6 c.15833-79T>C 0.992212 1 Uncertain 1_117622286_A->G 1 117622286 117622286 A G snp 6362.77 1/1 99 229 0 229 1.0 intronic rs2801939 TTF2 AU NM_003594 exon9 c.19303+15A>G 0.539537 0.7688 0.536675 0.6406 0.7433 Uncertain 1_117631391_T->C 1 117631391 117631391 T C snp 4695.77 1/1 99 165 0 165 1.0 intronic rs1555792 TTF2 AU NM_003594 exon13 c.28454-31T>C 0.908546 1 0.865447 0.9149 1 Uncertain 1_117659352_C->T 1 117659352 117659352 C T snp 1543.77 0/1 99 128 57 71 0.55 exonic rs3738413 TRIM45 AU nonsynonymous SNV NM_001145635 exon3 c.G1184A p.R395Q 0.091254 0.1329 0.091189 0.1046 0.1450 0.35 T 0.998 P -0.101 T 0.998 D 0.838 D Pathogenic 1_117660608_C->T 1 117660608 117660608 C T snp 388.77 0/1 99 21 6 15 0.71 intronic rs1289655 TRIM45 AU NM_025188 exon5 c.5729-47C>T 0.868011 0.8671 0.873443 0.8829 0.8538 Uncertain 1_117663913_C->T 1 117663913 117663913 C T snp 998.77 1/1 72 35 0 35 1.0 UTR5 rs3795655 TRIM45 AU 0.766573 0.9673 Uncertain 1_117690272_G->A 1 117690272 117690272 G A snp 1497.77 1/1 99 51 0 51 1.0 UTR3 rs10754339 VTCN1 AU 0.734625 0.9206 0.751269 0.8725 0.8939 Uncertain 1_117715026_C->T 1 117715026 117715026 C T snp 2821.77 1/1 99 101 0 101 1.0 intronic rs6657810 VTCN1 AU NM_001253849 exon5 c.22514+2233C>T 0.653954 0.9157 0.583188 0.6476 0.9022 Uncertain 1_117715987_-->AC 1 117715987 117715987 - AC indel 374.5 0/1 3 21 1 20 0.95 intronic rs140251705 VTCN1 AU NM_001253849 exon5 c.22514+3194insAC 0.638778 0.7718 Uncertain 1_118065841_A->G 1 118065841 118065841 A G snp 4729.77 1/1 99 177 0 177 1.0 UTR3 rs1290558 MAN1A2 AU 0.417133 0.4464 0.3864 0.4275 Uncertain 1_118320644_A->G 1 118320644 118320644 A G snp 234.8 1/1 21 9 0 9 1.0 intergenic rs1780028 FAM46C AU 0.802117 0.9147 Uncertain 1_118320859_T->A 1 118320859 118320859 T A snp 1440.77 1/1 99 67 1 66 0.99 intergenic rs1775749 FAM46C AU 0.999201 1 Uncertain 1_118321119_T->C 1 118321119 118321119 T C snp 1634.77 1/1 99 64 1 63 0.98 intergenic rs1655201 FAM46C AU 0.802316 0.9147 Uncertain 1_118484265_G->A 1 118484265 118484265 G A snp 265.8 1/1 21 8 0 8 1.0 intronic rs10733098 WDR3 AU NM_006784 exon9 c.8430-107G>A 1 1 Uncertain 1_118495652_C->T 1 118495652 118495652 C T snp 797.77 0/1 99 77 39 38 0.49 intronic rs191840950 WDR3 AU NM_006784 exon20 c.19677+33C>T 0.000998403 0.005 0.0003 0.0041 Uncertain 1_118526592_G->A 1 118526592 118526592 G A snp 270.77 0/1 54 10 2 8 0.8 intronic rs4347199 SPAG17 AU NM_206996 exon8 c.20115+56G>A 0.850439 0.6587 Uncertain 1_118530209_T->A 1 118530209 118530209 T A snp 68.77 0/1 61 5 2 3 0.6 intronic rs10923460 SPAG17 AU NM_206996 exon10 c.24035-247T>A 0.138179 0.3403 Uncertain 1_118530796_C->T 1 118530796 118530796 C T snp 1727.77 0/1 99 162 89 73 0.45 exonic rs12040811 SPAG17 AU synonymous SNV NM_206996 exon39 c.G5553A p.Q1851Q 0.138379 0.3403 0.054744 0.0909 0.3273 Uncertain 1_118533521_A->T 1 118533521 118533521 A T snp 494.77 0/1 99 39 16 23 0.59 exonic SPAG17 AU synonymous SNV NM_206996 exon38 c.T5484A p.P1828P Uncertain 1_118537074_A->G 1 118537074 118537074 A G snp 2321.77 0/1 99 201 103 98 0.49 exonic rs12031260 SPAG17 AU synonymous SNV NM_206996 exon35 c.T5133C p.P1711P 0.128395 0.3204 0.051753 0.0851 0.3248 Uncertain 1_118550552_-->A 1 118550552 118550552 - A indel 599.73 0/1 99 42 22 20 0.48 intronic rs71663884 SPAG17 AU NM_206996 exon19 c.44245-114insA Uncertain 1_118550555_T->G 1 118550555 118550555 T G snp 624.77 0/1 99 44 23 21 0.48 intronic rs202006843 SPAG17 AU NM_206996 exon19 c.44245-111T>G Uncertain 1_118550594_C->A 1 118550594 118550594 C A snp 1133.77 0/1 99 100 52 48 0.48 intronic rs10923465 SPAG17 AU NM_206996 exon19 c.44245-72C>A 0.11242 0.3085 Uncertain 1_118571089_C->A 1 118571089 118571089 C A snp 308.77 0/1 99 29 16 13 0.45 intronic rs17037839 SPAG17 AU NM_206996 exon24 c.64596+72C>A 0.13778 0.3204 Uncertain 1_118623655_G->T 1 118623655 118623655 G T snp 32.77 0/1 61 15 12 3 0.2 intronic SPAG17 AU NM_206996 exon35 c.117302-68G>T Uncertain 1_118629125_T->C 1 118629125 118629125 T C snp 351.78 1/1 27 9 0 9 1.0 intronic rs2798150 SPAG17 AU NM_206996 exon38 c.122872-168T>C 0.986222 1 Uncertain 1_118693217_T->C 1 118693217 118693217 T C snp 726.77 0/1 99 48 16 32 0.67 exonic rs1935992 SPAG17 AU synonymous SNV NM_206996 exon3 c.A264G p.S88S 0.227037 0.4048 0.160497 0.2430 0.3825 Uncertain 1_119427454_G->A 1 119427454 119427454 G A snp 1241.77 0/1 99 124 71 53 0.43 exonic rs12569041 TBX15 AR synonymous SNV NM_152380 exon8 c.C1392T p.S464S 0.0746805 0.1171 0.091881 0.1059 0.1017 Uncertain 1_119466275_A->G 1 119466275 119466275 A G snp 1932.77 1/1 99 68 0 68 1.0 intronic rs4659129 TBX15 AR NM_152380 exon4 c.38872+49A>G 0.641573 0.7817 0.651007 0.6598 0.7787 Uncertain 1_119466374_G->T 1 119466374 119466374 G T snp 93.28 1/1 9 3 0 3 1.0 intronic rs1766793 TBX15 AR NM_152380 exon4 c.38872+148G>T 0.674321 0.7946 Uncertain 1_119467127_C->T 1 119467127 119467127 C T snp 254.8 1/1 21 7 0 7 1.0 intronic rs1779437 TBX15 AR NM_152380 exon5 c.39914-141C>T 0.670327 0.7927 Uncertain 1_119923531_A->C 1 119923531 119923531 A C snp 602.77 0/1 99 58 33 25 0.43 intronic rs2224995 HAO2 AU NM_001005783 exon3 c.385-169A>C 0.66853 0.6726 Uncertain 1_119923982_G->T 1 119923982 119923982 G T snp 219.77 0/1 99 16 8 8 0.5 intronic rs117942585 HAO2 AU NM_016527 exon2 c.131+143G>T 0.00539137 0.0258 Uncertain 1_119927680_A->G 1 119927680 119927680 A G snp 2480.77 0/1 99 173 69 104 0.6 splicing rs6667679 HAO2 AU NM_016527 exon4 c.3968+4A>G 0.667532 0.6726 0.645856 0.6586 0.6977 Pathogenic 1_119935507_A->T 1 119935507 119935507 A T snp 213.77 0/1 99 15 8 7 0.47 intronic rs10802092 HAO2 AU NM_016527 exon7 c.11602+197A>T 0.551118 0.4931 Uncertain 1_120057158_C->T 1 120057158 120057158 C T snp 6429.77 1/1 99 223 0 223 1.0 exonic rs6203 HSD3B1 AU synonymous SNV NM_000862 exon4 c.C1012T p.L338L 0.366813 0.6528 0.321928 0.4388 0.6688 ID=CM021275;DIS=Hypertension, association with;TAG=DP;PUB=12054649 DP Uncertain 1_120057246_C->A 1 120057246 120057246 C A snp 1504.77 1/1 99 49 0 49 1.0 exonic rs1047303 HSD3B1 AU nonsynonymous SNV NM_000862 exon4 c.C1100A p.T367N 0.833466 0.9177 0.749154 0.7554 0.9376 0.37 T 0.0 P -1.061 T 0.021 T 0.025 T Pathogenic 1_120165826_C->T 1 120165826 120165826 C T snp 2843.77 0/1 99 245 116 129 0.53 exonic rs12076924 ZNF697 AU synonymous SNV NM_001080470 exon3 c.G1140A p.P380P 0.715855 0.7738 0.677006 0.7163 0.8440 Uncertain 1_120166681_G->A 1 120166681 120166681 G A snp 2523.77 0/1 99 209 99 110 0.53 exonic rs12067843 ZNF697 AU synonymous SNV NM_001080470 exon3 c.C285T p.S95S 0.672324 0.7758 0.577992 0.5715 0.8096 Uncertain 1_120254545_G->C 1 120254545 120254545 G C snp 212.84 1/1 18 6 0 6 1.0 UTR5 rs562038 PHGDH AR 0.817492 0.9266 Uncertain 1_120263657_A->G 1 120263657 120263657 A G snp 3255.77 1/1 99 103 0 103 1.0 intronic rs894079 PHGDH AR NM_006623 exon2 c.9147-135A>G 0.296326 0.2996 Uncertain 1_120267544_C->T 1 120267544 120267544 C T snp 3779.77 1/1 99 147 2 145 0.99 intronic rs1886736 PHGDH AR NM_006623 exon3 c.11419+1480C>T 0.257188 0.2877 0.1583 0.2788 Uncertain 1_120267598_C->- 1 120267598 120267598 C - indel 2417.73 1/1 99 62 0 62 1.0 intronic rs3838425 PHGDH AR NM_006623 exon3 c.11419+1534delC 0.483826 0.3631 0.4035 0.3349 Uncertain 1_120267701_AGA->- 1 120267701 120267703 AGA - indel 267.73 0/1 99 11 5 6 0.55 intronic rs3838424 PHGDH AR NM_006623 exon3 c.11419+1637_11419+1639delAGA 0.0309505 0.0754 Uncertain 1_120269567_G->C 1 120269567 120269567 G C snp 3944.77 1/1 99 146 0 146 1.0 intronic rs2236398 PHGDH AR NM_006623 exon4 c.14883+39G>C 0.255791 0.2867 0.201522 0.1593 0.3154 Uncertain 1_120336785_C->T 1 120336785 120336785 C T snp 897.77 0/1 99 99 60 39 0.39 UTR3 rs1052972 REG4 AU 0.536741 0.2411 0.616324 0.5243 0.2302 1 T 0.0 P Uncertain 1_120336876_T->G 1 120336876 120336876 T G snp 909.77 0/1 99 70 31 39 0.56 UTR3 rs699778 REG4 AU 0.458267 0.7589 Uncertain 1_120337203_G->- 1 120337203 120337203 G - indel 2563.73 0/1 99 147 67 80 0.54 UTR3 rs80287294 REG4 AU 0.0413339 0.0933 0.009503 0.0196 0.0925 Uncertain 1_120337384_T->C 1 120337384 120337384 T C snp 724.77 0/1 99 46 18 28 0.61 intronic rs947270 REG4 AU NM_001159352 exon1 c.68+76T>C 0.458666 0.7589 Uncertain 1_120337403_A->G 1 120337403 120337403 A G snp 497.77 0/1 99 25 9 16 0.64 intronic rs947271 REG4 AU NM_001159352 exon1 c.68+95A>G 0.459065 0.7589 Uncertain 1_120340918_G->A 1 120340918 120340918 G A snp 136.03 1/1 12 4 0 4 1.0 intronic rs1163541 REG4 AU NM_001159352 exon2 c.3879-201G>A 0.775759 0.9117 Uncertain 1_120341236_A->C 1 120341236 120341236 A C snp 870.77 0/1 99 80 45 35 0.44 intronic rs3213910 REG4 AU NM_001159352 exon2 c.3985+11A>C 0.0623003 0.0933 0.026219 0.0251 0.0926 Uncertain 1_120381686_-->TGTGAGTCA 1 120381686 120381686 - TGTGAGTCA indel 608.8 1/1 18 6 0 6 1.0 intronic rs5777416 NBPF7 AU NM_001047980 exon4 c.4419-120insTGTGAGTCA Uncertain 1_120381687_G->C 1 120381687 120381687 G C snp 261.8 1/1 21 7 0 7 1.0 intronic rs200209132 NBPF7 AU NM_001047980 exon4 c.4419-119G>C Uncertain 1_120465007_T->A 1 120465007 120465007 T A snp 1882.77 0/1 99 178 97 81 0.46 exonic rs60854092 NOTCH2 AD nonsynonymous SNV NM_024408 exon28 c.A5065T p.I1689F 0.00758786 0.0347 0.000154 0.0019 0.0251 0.06 T 1.000 D -0.685 T 0.664 T 0.203 P CLINSIG=untested;CLNDBN=not_specified;CLNREVSTAT=no_assertion_provided;CLNACC=RCV000121728.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 ID=COSM146592;OCCURENCE=1(stomach) Pathogenic 1_120468425_G->A 1 120468425 120468425 G A snp 1654.77 0/1 99 141 74 67 0.48 exonic rs17024525 NOTCH2 AD synonymous SNV NM_024408 exon25 c.C4014T p.S1338S 0.0357428 0.1399 0.005159 0.0177 0.1616 Uncertain 1_120478285_T->C 1 120478285 120478285 T C snp 2484.77 1/1 99 85 0 85 1.0 intronic NOTCH2 AD NM_001200001 exon1 c.186+58T>C 0.604433 0.8879 Uncertain 1_120480394_T->C 1 120480394 120480394 T C snp 536.77 1/1 42 14 0 14 1.0 intronic NOTCH2 AD NM_001200001 exon3 c.2438-85T>C 0.978634 1 Uncertain 1_120505996_G->C 1 120505996 120505996 G C snp 54.74 1/1 6 2 0 2 1.0 intronic NOTCH2 AD NM_001200001 exon12 c.28155-200G>C 0.59984 0.8869 Uncertain 1_120512104_T->C 1 120512104 120512104 T C snp 1064.77 1/1 78 28 0 28 1.0 intronic NOTCH2 AD NM_001200001 exon17 c.34092-29T>C 0.978634 1 0.973551 0.9929 1 Uncertain 1_120539331_C->T 1 120539331 120539331 C T snp 2689.77 0/1 99 249 142 107 0.43 intronic NOTCH2 AD NM_001200001 exon19 c.61578-288C>T 0.4411 0.4699 Uncertain 1_120572547_T->C 1 120572547 120572547 T C snp 105.77 0/1 99 249 194 55 0.22 exonic NOTCH2 AD nonsynonymous SNV NM_024408 exon2 c.A137G p.N46S 0.4736 0.4819 0.8 T 0.999 P -0.943 T 0.713 T 0.678 P ID=COSM3773408;OCCURENCE=1(kidney),2(thyroid) Pathogenic 1_120572572_C->T 1 120572572 120572572 C T snp 181.77 0/1 99 250 199 51 0.2 exonic NOTCH2 AD nonsynonymous SNV NM_024408 exon2 c.G112A p.E38K 0.4699 0.4770 0.03 T 0.567 P -1.097 T 0.044 T 0.036 T ID=COSM1736165;OCCURENCE=1(thyroid),1(central_nervous_system) Pathogenic 1_120611496_C->A 1 120611496 120611496 C A snp 1022.77 0/1 99 138 79 59 0.43 intronic rs2794164 NOTCH2 AD NM_001200001 exon22 c.133906-451C>A 0.0662 0.0345 Uncertain 1_120611498_G->C 1 120611498 120611498 G C snp 610.77 0/1 99 143 104 39 0.27 intronic rs2489097 NOTCH2 AD NM_001200001 exon22 c.133906-449G>C 0.0464 0.025 0 D 0.997 D -0.645 T Uncertain 1_120611554_T->C 1 120611554 120611554 T C snp 1416.77 0/1 99 250 167 83 0.33 intronic rs2794165 NOTCH2 AD NM_001200001 exon22 c.133906-393T>C 0.4931 0.4453 0 D 1 D -0.735 T Uncertain 1_120611555_T->G 1 120611555 120611555 T G snp 1355.77 0/1 99 250 170 80 0.32 intronic rs77254078 NOTCH2 AD NM_001200001 exon22 c.133906-392T>G 0.4874 0.4453 0 D 1 D -0.888 T Uncertain 1_120611715_A->G 1 120611715 120611715 A G snp 2163.77 0/1 99 221 105 116 0.52 intronic rs2794167 NOTCH2 AD NM_001200001 exon22 c.133906-232A>G 0.3565 0.3707 Uncertain 1_120611758_G->A 1 120611758 120611758 G A snp 1272.77 0/1 99 115 59 56 0.49 intronic rs61790276 NOTCH2 AD NM_001200001 exon22 c.133906-189G>A 0.4517 0.4855 0 D 0.978 N -1.048 T Uncertain 1_120611830_G->A 1 120611830 120611830 G A snp 683.77 0/1 99 54 26 28 0.52 intronic rs61790277 NOTCH2 AD NM_001200001 exon22 c.133906-117G>A 0.4564 0.4890 0 D 1.000 N Uncertain 1_120611876_C->T 1 120611876 120611876 C T snp 628.77 0/1 99 51 25 26 0.51 intronic rs11801062 NOTCH2 AD NM_001200001 exon22 c.133906-71C>T 0.4703 0.4889 Uncertain 1_120611964_G->C 1 120611964 120611964 G C snp 493.77 0/1 99 42 19 23 0.55 exonic rs11810554 NOTCH2 AD nonsynonymous SNV NM_024408 exon1 c.C57G p.C19W 0.4493 0.4715 0 D 0.970 N -1.048 T 0.002 T 0.0 T ID=COSM132738;OCCURENCE=1(thyroid),1(central_nervous_system),2(urinary_tract) Pathogenic 1_120612006_G->A 1 120612006 120612006 G A snp 483.77 0/1 99 36 16 20 0.56 exonic rs4021006 NOTCH2 AD synonymous SNV NM_024408 exon1 c.C15T p.R5R 0.39397 0.4315 0.4638 0.4781 1 D ID=COSM1320072;OCCURENCE=2(thyroid),1(ovary) Uncertain 1_120612040_-->CCTCCGCCG 1 120612040 120612040 - CCTCCGCCG indel 1435.73 0/1 99 42 25 17 0.4 UTR5 rs782658834 NOTCH2 AD 0.019636 0.0833 0.0582 Uncertain 1_120612154_C->G 1 120612154 120612154 C G snp 378.77 0/1 99 72 48 24 0.33 UTR5 rs56375229 NOTCH2 AD Uncertain 1_120612163_C->A 1 120612163 120612163 C A snp 397.77 0/1 99 67 42 25 0.37 UTR5 rs55899574 NOTCH2 AD Uncertain 1_120612168_C->T 1 120612168 120612168 C T snp 172.77 0/1 99 65 53 12 0.18 UTR5 rs11801102 NOTCH2 AD Uncertain 1_120612265_A->G 1 120612265 120612265 A G snp 187.77 0/1 99 16 8 8 0.5 UTR5 rs2746700 NOTCH2 AD 0.227236 0.127 Uncertain 1_120925908_G->A 1 120925908 120925908 G A snp 141.77 0/1 99 104 88 16 0.15 downstream FCGR1B AU Uncertain 1_121115761_T->G 1 121115761 121115761 T G snp 273.77 0/1 99 50 34 16 0.32 ncRNA_intronic rs28439812 SRGAP2-AS1 AU Uncertain 1_121115786_C->A 1 121115786 121115786 C A snp 548.77 0/1 99 91 64 27 0.3 ncRNA_intronic rs199825051 SRGAP2-AS1 AU 0.4937 0.4958 Uncertain 1_121115958_T->A 1 121115958 121115958 T A snp 895.77 ./1 99 87 0 87 1.0 ncRNA_exonic rs2289361 SRGAP2D AU 0.0139776 0.0526 0.0059 0.0878 Uncertain 1_121115958_T->C 1 121115958 121115958 T C snp 895.77 ./1 99 87 0 87 1.0 ncRNA_exonic rs2289361 SRGAP2D AU 0.165335 0.2748 0.0021 0.0115 Uncertain 1_121115981_C->T 1 121115981 121115981 C T snp 408.77 0/1 99 68 28 40 0.59 ncRNA_exonic rs201138873 SRGAP2D AU 0.0923 0.2134 Uncertain 1_121116647_T->A 1 121116647 121116647 T A snp 364.77 0/1 99 68 44 24 0.35 ncRNA_intronic rs2772072 SRGAP2-AS1 AU 0.5000 0.5001 Uncertain 1_121116678_C->T 1 121116678 121116678 C T snp 2378.77 0/1 99 143 56 87 0.61 ncRNA_intronic rs61806689 SRGAP2-AS1 AU 0.3677 0.3722 Uncertain 1_121116688_A->G 1 121116688 121116688 A G snp 2777.77 0/1 99 174 61 113 0.65 ncRNA_exonic rs61806690 SRGAP2D AU 0.5277 0.5324 Uncertain 1_121116733_A->G 1 121116733 121116733 A G snp 495.77 0/1 99 250 192 58 0.23 ncRNA_exonic rs61806691 SRGAP2D AU 0.4974 0.4980 Uncertain 1_121116933_T->C 1 121116933 121116933 T C snp 1196.77 1/1 87 34 0 34 1.0 ncRNA_intronic rs61806692 SRGAP2-AS1 AU 0.60024 0.7738 Uncertain 1_121116953_A->G 1 121116953 121116953 A G snp 685.77 1/1 51 19 0 19 1.0 ncRNA_intronic rs2993862 SRGAP2-AS1 AU 0.654553 0.7827 Uncertain 1_121124501_C->A 1 121124501 121124501 C A snp 168.77 0/1 99 149 104 45 0.3 ncRNA_intronic rs201210511 SRGAP2-AS1 AU Uncertain 1_121124514_G->A 1 121124514 121124514 G A snp 118.77 0/1 99 193 141 52 0.27 ncRNA_intronic rs4844653 SRGAP2-AS1 AU Uncertain 1_121129557_T->C 1 121129557 121129557 T C snp 61.77 0/1 90 249 129 120 0.48 ncRNA_exonic rs2580438 SRGAP2D AU 0.4995 0.4991 Uncertain 1_121306744_T->C 1 121306744 121306744 T C snp 442.77 0/1 99 26 8 18 0.69 ncRNA_intronic EMBP1 AU 0.0131789 0.0645 0.0057 0.0747 Uncertain 1_144013853_T->C 1 144013853 144013853 T C snp 1668.77 0/1 99 250 175 75 0.3 intergenic rs6600697 FAM72D AU 0.4875 0.4864 Uncertain 1_144013865_T->G 1 144013865 144013865 T G snp 1833.77 0/1 99 250 171 79 0.32 intergenic rs6600696 FAM72D AU 0.4986 0.4981 Uncertain 1_144014051_G->A 1 144014051 144014051 G A snp 1890.77 0/1 99 225 145 80 0.36 intergenic rs1884147 FAM72D AU 0.4994 0.4982 Uncertain 1_144014068_T->C 1 144014068 144014068 T C snp 4079.77 0/1 99 208 59 149 0.72 intergenic rs1884146 FAM72D AU 0.5013 0.5 Uncertain 1_144680070_T->C 1 144680070 144680070 T C snp 2183.77 1/1 99 117 0 117 1.0 intronic rs150219082 NBPF20 AU NM_001278267 exon53 c.666321-144634T>C 0.920327 0.8472 Uncertain 1_144854397_T->C 1 144854397 144854397 T C snp 172.9 1/1 15 6 0 6 1.0 intronic NBPF20 AU NM_001278267 exon53 c.666373+29641T>C 0.907548 0.9504 Uncertain 1_144854412_A->C 1 144854412 144854412 A C snp 134.77 0/1 99 12 6 6 0.5 intronic NBPF20 AU NM_001278267 exon53 c.666373+29656A>C 0.506789 0.5188 Uncertain 1_144854454_A->C 1 144854454 144854454 A C snp 483.77 0/1 99 41 18 23 0.56 intronic NBPF20 AU NM_001278267 exon53 c.666373+29698A>C Uncertain 1_144854491_T->G 1 144854491 144854491 T G snp 837.77 0/1 99 86 51 35 0.41 intronic NBPF20 AU NM_001278267 exon53 c.666373+29735T>G 0.5000 0.5 Uncertain 1_144854497_A->G 1 144854497 144854497 A G snp 828.77 0/1 99 90 54 36 0.4 intronic NBPF20 AU NM_001278267 exon53 c.666373+29741A>G 0.4998 0.5 Uncertain 1_144854528_A->G 1 144854528 144854528 A G snp 945.77 0/1 99 110 66 44 0.4 exonic PDE4DIP AU synonymous SNV NM_001198834 exon42 c.T6942C p.I2314I 0.4443 0.4696 Uncertain 1_144854537_T->C 1 144854537 144854537 T C snp 933.77 0/1 99 113 68 45 0.4 exonic PDE4DIP AU synonymous SNV NM_001198834 exon42 c.A6933G p.E2311E 0.4562 0.4713 Uncertain 1_144854581_T->C 1 144854581 144854581 T C snp 440.77 0/1 99 100 74 26 0.26 exonic PDE4DIP AU nonsynonymous SNV NM_001198834 exon42 c.A6889G p.T2297A 0.4675 0.4750 0.74 T 1 N -1.022 T 0.0 T 0.0 T Pathogenic 1_144854594_G->T 1 144854594 144854594 G T snp 403.77 0/1 99 98 73 25 0.26 exonic PDE4DIP AU synonymous SNV NM_001198834 exon42 c.C6876A p.L2292L 0.441094 0.4464 0.4866 0.4909 Uncertain 1_144854597_T->C 1 144854597 144854597 T C snp 2556.77 1/1 99 96 0 96 1.0 exonic PDE4DIP AU synonymous SNV NM_001198834 exon42 c.A6873G p.R2291R 0.441094 0.4464 0.5102 0.6062 Uncertain 1_144854598_C->T 1 144854598 144854598 C T snp 1080.77 0/1 99 95 49 46 0.48 exonic PDE4DIP AU nonsynonymous SNV NM_001198834 exon42 c.G6872A p.R2291Q 0.5 0.5 1 T 1 N -0.918 T 0.002 T 0.001 T Pathogenic 1_144859720_G->C 1 144859720 144859720 G C snp 682.77 1/1 51 20 0 20 1.0 intronic NBPF20 AU NM_001278267 exon53 c.666373+34964G>C 0.923922 0.996 0.8557 0.9937 Uncertain 1_144860011_G->A 1 144860011 144860011 G A snp 446.77 0/1 99 91 66 25 0.27 intronic NBPF20 AU NM_001278267 exon53 c.666373+35255G>A 0.00159744 0.0069 0.0009 0.0125 Uncertain 1_144860026_G->C 1 144860026 144860026 G C snp 949.77 0/1 99 73 34 39 0.53 intronic NBPF20 AU NM_001278267 exon53 c.666373+35270G>C 0.4999 0.5 Uncertain 1_144860131_A->G 1 144860131 144860131 A G snp 38.77 0/1 31 3 1 2 0.67 intronic NBPF20 AU NM_001278267 exon53 c.666373+35375A>G Uncertain 1_144864454_G->A 1 144864454 144864454 G A snp 156.77 0/1 99 8 3 5 0.63 intronic NBPF20 AU NM_001278267 exon53 c.666373+39698G>A Uncertain 1_144865850_G->T 1 144865850 144865850 G T snp 2718.77 0/1 99 214 92 122 0.57 exonic PDE4DIP AU nonsynonymous SNV NM_001198834 exon35 c.C5730A p.D1910E 0.5 0.5 1 T 1 D -0.963 T 0.0 T 0.0 T Pathogenic 1_144866509_G->A 1 144866509 144866509 G A snp 2224.77 0/1 99 146 66 80 0.55 intronic NBPF20 AU NM_001278267 exon53 c.666373+41753G>A Uncertain 1_144866643_G->A 1 144866643 144866643 G A snp 3347.77 0/1 99 249 124 125 0.5 exonic PDE4DIP AU nonsynonymous SNV NM_001198834 exon34 c.C5599T p.R1867C 0.5 0.5 0.01 T 1 D -1.099 T 1.0 D 0.995 D Pathogenic 1_144866662_T->C 1 144866662 144866662 T C snp 7553.77 1/1 99 249 1 248 1.0 exonic PDE4DIP AU synonymous SNV NM_001198834 exon34 c.A5580G p.E1860E 0.5103 0.6086 1.000 P -1.075 T Likely benign 1_144868170_C->T 1 144868170 144868170 C T snp 2124.77 0/1 99 166 92 74 0.45 exonic PDE4DIP AU nonsynonymous SNV NM_001198834 exon33 c.G5269A p.A1757T 0.5 0.5 0.44 T 1.000 D -0.924 T 0.034 T 0.022 T Pathogenic 1_144868204_A->C 1 144868204 144868204 A C snp 939.77 0/1 99 71 40 31 0.44 intronic NBPF20 AU NM_001278267 exon53 c.666373+43448A>C 0.5000 0.4999 Uncertain 1_144868245_T->C 1 144868245 144868245 T C snp 128.77 0/1 99 16 11 5 0.31 intronic NBPF20 AU NM_001278267 exon53 c.666373+43489T>C Uncertain 1_144871738_C->A 1 144871738 144871738 C A snp 229.77 0/1 99 23 13 10 0.43 exonic PDE4DIP AU nonsynonymous SNV NM_001198834 exon32 c.G5224T p.A1742S 0.5000 0.4998 0.48 T 1 D -0.798 T 0.997 D 0.985 D Pathogenic 1_144871755_A->T 1 144871755 144871755 A T snp 229.77 0/1 99 26 14 12 0.46 exonic PDE4DIP AU nonsynonymous SNV NM_001198834 exon32 c.T5207A p.V1736E 0.5000 0.4998 0.32 T 1.000 N -0.931 T 0.361 T 0.069 T Pathogenic 1_144871782_A->G 1 144871782 144871782 A G snp 455.77 0/1 99 42 23 19 0.45 exonic PDE4DIP AU nonsynonymous SNV NM_001198834 exon32 c.T5180C p.L1727P 0.5 0.5 1 T 1 D -0.939 T 0.0 T 0.0 T Pathogenic 1_144871889_A->C 1 144871889 144871889 A C snp 745.77 0/1 99 66 35 31 0.47 intronic NBPF20 AU NM_001278267 exon53 c.666373+47133A>C 0.5000 0.5 Uncertain 1_144873794_C->T 1 144873794 144873794 C T snp 425.77 0/1 99 17 4 13 0.76 intronic NBPF20 AU NM_001278267 exon53 c.666373+49038C>T Uncertain 1_144873818_A->G 1 144873818 144873818 A G snp 755.77 0/1 99 42 18 24 0.57 intronic NBPF20 AU NM_001278267 exon53 c.666373+49062A>G Uncertain 1_144873840_A->G 1 144873840 144873840 A G snp 1160.77 0/1 99 72 34 38 0.53 intronic NBPF20 AU NM_001278267 exon53 c.666373+49084A>G 0.5 0.5 Uncertain 1_144873887_C->T 1 144873887 144873887 C T snp 1939.77 0/1 99 186 100 86 0.46 exonic PDE4DIP AU synonymous SNV NM_001198834 exon31 c.G5070A p.Q1690Q 0.5 0.5 Uncertain 1_144874038_T->C 1 144874038 144874038 T C snp 2198.77 0/1 99 169 81 88 0.52 intronic NBPF20 AU NM_001278267 exon53 c.666373+49282T>C 0.5 0.5 Uncertain 1_144874070_C->T 1 144874070 144874070 C T snp 1450.77 0/1 99 96 45 51 0.53 intronic NBPF20 AU NM_001278267 exon53 c.666373+49314C>T 0.5 0.5 Uncertain 1_144874088_G->C 1 144874088 144874088 G C snp 869.77 0/1 99 58 30 28 0.48 intronic NBPF20 AU NM_001278267 exon53 c.666373+49332G>C Uncertain 1_144874641_G->C 1 144874641 144874641 G C snp 511.77 0/1 99 46 25 21 0.46 intronic NBPF20 AU NM_001278267 exon53 c.666373+49885G>C 0.5 0.5 Uncertain 1_144874760_T->C 1 144874760 144874760 T C snp 1577.77 0/1 99 167 95 72 0.43 exonic PDE4DIP AU synonymous SNV NM_001198834 exon30 c.A4848G p.E1616E 0.5 0.5 Uncertain 1_144874815_T->C 1 144874815 144874815 T C snp 1334.77 0/1 99 148 86 62 0.42 exonic PDE4DIP AU nonsynonymous SNV NM_001198834 exon30 c.A4793G p.H1598R 0.269580 0.4040 0.4966 0.15 T 1 D -0.923 T 0.001 T 0.006 T Pathogenic 1_144874950_G->A 1 144874950 144874950 G A snp 578.77 0/1 99 40 16 24 0.6 intronic NBPF20 AU NM_001278267 exon53 c.666373+50194G>A 0.4999 0.4997 Uncertain 1_144875940_G->A 1 144875940 144875940 G A snp 1210.77 0/1 99 95 48 47 0.49 intronic NBPF20 AU NM_001278267 exon53 c.666373+51184G>A 0.019541 0.0745 0.3585 Uncertain 1_144875979_G->C 1 144875979 144875979 G C snp 1361.77 0/1 99 124 64 60 0.48 exonic PDE4DIP AU synonymous SNV NM_001198834 exon29 c.C4701G p.L1567L 0.128635 0.1948 0.3985 Uncertain 1_144877176_C->T 1 144877176 144877176 C T snp 1154.77 0/1 99 106 61 45 0.42 exonic PDE4DIP AU nonsynonymous SNV NM_001198834 exon28 c.G4511A p.R1504Q 0.5000 0.5 1 T 1 D -0.991 T 0.0 T 0.0 T Pathogenic 1_144877366_A->G 1 144877366 144877366 A G snp 1728.77 0/1 99 141 69 72 0.51 intronic NBPF20 AU NM_001278267 exon53 c.666373+52610A>G Uncertain 1_144877390_G->A 1 144877390 144877390 G A snp 1107.77 0/1 99 83 41 42 0.51 intronic NBPF20 AU NM_001278267 exon53 c.666373+52634G>A Uncertain 1_144879264_A->G 1 144879264 144879264 A G snp 3197.84 1/1 99 118 0 118 1.0 exonic PDE4DIP AU nonsynonymous SNV NM_001198834 exon27 c.T4186C p.W1396R 0.710064 0.9296 0.6879 0.9285 0.82 T 1.000 P -1.062 T 0.0 T 0.0 T Pathogenic 1_144879375_T->C 1 144879375 144879375 T C snp 1370.77 0/1 99 110 53 57 0.52 exonic PDE4DIP AU nonsynonymous SNV NM_001198834 exon27 c.A4075G p.K1359E 0.5 0.5 0.92 T 0.788 N -0.976 T 0.229 T 0.053 T Pathogenic 1_144880693_G->T 1 144880693 144880693 G T snp 400.77 0/1 99 49 27 22 0.45 intronic NBPF20 AU NM_001278267 exon53 c.666373+55937G>T 0.118411 0.3492 0.010232 0.0738 0.3562 Uncertain 1_144880864_T->A 1 144880864 144880864 T A snp 540.77 0/1 99 63 36 27 0.43 splicing PDE4DIP AU NM_001198834 exon19 c.28508+3T>A 0.025081 0.0743 0.3582 Pathogenic 1_144881389_T->C 1 144881389 144881389 T C snp 98.77 0/1 99 8 4 4 0.5 intronic NBPF20 AU NM_001278267 exon53 c.666373+56633T>C 0.5000 0.5 Uncertain 1_144881666_C->A 1 144881666 144881666 C A snp 863.77 0/1 99 67 31 36 0.54 intronic NBPF20 AU NM_001278267 exon53 c.666373+56910C>A 0.015156 0.0718 0.3551 Uncertain 1_144882581_A->G 1 144882581 144882581 A G snp 1499.77 0/1 99 91 46 45 0.49 exonic PDE4DIP AU synonymous SNV NM_001198834 exon24 c.T3438C p.I1146I 0.5000 0.5 1.000 N Uncertain 1_144882823_C->T 1 144882823 144882823 C T snp 3223.52 0/1 99 241 118 123 0.51 exonic PDE4DIP AU nonsynonymous SNV NM_001198834 exon24 c.G3196A p.A1066T 0.5000 0.5 0.58 T 1 D -0.530 T 0.998 D 0.995 D Pathogenic 1_144886063_T->C 1 144886063 144886063 T C snp 480.77 0/1 99 47 24 23 0.49 intronic NBPF20 AU NM_001278267 exon53 c.666373+61307T>C 0.5000 0.5 Uncertain 1_144886092_C->T 1 144886092 144886092 C T snp 719.77 0/1 99 70 37 33 0.47 splicing PDE4DIP AU NM_001198834 exon22 c.33743-4C>T 0.5000 0.5 Pathogenic 1_144886197_A->T 1 144886197 144886197 A T snp 1701.77 0/1 99 130 58 72 0.55 exonic PDE4DIP AU nonsynonymous SNV NM_001198834 exon23 c.T3037A p.F1013I 0.5000 0.5 0.55 T 0.972 D -1.018 T 0.0 T 0.0 T Pathogenic 1_144886350_G->T 1 144886350 144886350 G T snp 744.77 0/1 99 60 31 29 0.48 intronic NBPF20 AU NM_001278267 exon53 c.666373+61594G>T 0.066877 0.1931 0.3986 Uncertain 1_144886409_A->C 1 144886409 144886409 A C snp 283.77 0/1 99 18 9 9 0.5 intronic NBPF20 AU NM_001278267 exon53 c.666373+61653A>C Uncertain 1_144890833_T->C 1 144890833 144890833 T C snp 973.77 0/1 99 66 32 34 0.52 UTR3 PDE4DIP AU Uncertain 1_144891147_T->C 1 144891147 144891147 T C snp 516.77 0/1 99 47 30 17 0.36 UTR3 PDE4DIP AU Uncertain 1_144892089_G->T 1 144892089 144892089 G T snp 438.77 0/1 99 33 15 18 0.55 UTR3 PDE4DIP AU Uncertain 1_144892149_G->A 1 144892149 144892149 G A snp 898.77 0/1 99 62 24 38 0.61 UTR3 PDE4DIP AU Uncertain 1_144892368_A->T 1 144892368 144892368 A T snp 1749.77 0/1 99 117 53 64 0.55 intronic NBPF20 AU NM_001278267 exon53 c.666373+67612A>T Uncertain 1_144895411_T->C 1 144895411 144895411 T C snp 1482.77 0/1 99 136 64 72 0.53 intronic NBPF20 AU NM_001278267 exon53 c.666373+70655T>C Uncertain 1_144895460_C->T 1 144895460 144895460 C T snp 667.77 0/1 99 68 40 28 0.41 intronic NBPF20 AU NM_001278267 exon53 c.666373+70704C>T Uncertain 1_144909956_G->A 1 144909956 144909956 G A snp 36.77 0/1 65 63 54 9 0.14 exonic PDE4DIP AU synonymous SNV NM_001002811 exon13 c.C2721T p.D907D 0.225511 0.2725 0.3304 Uncertain 1_144910082_A->G 1 144910082 144910082 A G snp 1885.77 1/1 99 72 0 72 1.0 intronic NBPF20 AU NM_001278267 exon53 c.666373+85326A>G 0.883187 0.9435 Uncertain 1_144912153_A->G 1 144912153 144912153 A G snp 595.77 1/1 45 17 0 17 1.0 exonic PDE4DIP AU nonsynonymous SNV NM_001002811 exon11 c.T2611C p.C871R 0.883786 0.9395 0.826618 0.8255 0.9281 0.47 T 0.000 P -0.906 T 0.002 T 0.001 T Pathogenic 1_144912233_C->T 1 144912233 144912233 C T snp 578.77 0/1 99 54 26 28 0.52 exonic PDE4DIP AU nonsynonymous SNV NM_001002811 exon11 c.G2531A p.R844H 0.5 0.5 0.12 T 1 D -1.123 T 1.0 D 0.998 D Pathogenic 1_144915412_T->C 1 144915412 144915412 T C snp 2248.77 0/1 99 150 60 90 0.6 intronic NBPF20 AU NM_001278267 exon53 c.666373+90656T>C 0.269349 0.4038 0.4966 Uncertain 1_144915561_G->A 1 144915561 144915561 G A snp 1914.77 0/1 99 172 88 84 0.49 exonic PDE4DIP AU stopgain NM_001002811 exon10 c.C2353T p.R785X 0.5 0.5 1 T 1.000 D Pathogenic 1_144915624_G->- 1 144915624 144915624 G - indel 930.73 0/1 99 59 31 28 0.47 exonic PDE4DIP AU frameshift deletion NM_001002811 exon10 c.2290delC p.L764fs 0.128256 0.1924 0.3971 Pathogenic 1_144916486_T->G 1 144916486 144916486 T G snp 282.77 0/1 99 20 11 9 0.45 intronic NBPF20 AU NM_001278267 exon53 c.666373+91730T>G Uncertain 1_144916493_A->G 1 144916493 144916493 A G snp 338.77 0/1 99 25 14 11 0.44 intronic NBPF20 AU NM_001278267 exon53 c.666373+91737A>G Uncertain 1_144916644_G->A 1 144916644 144916644 G A snp 1024.77 0/1 99 250 196 54 0.22 exonic PDE4DIP AU nonsynonymous SNV NM_001002811 exon9 c.C2200T p.R734C 0.000599042 0.003 0.000231 0.0003 0.0036 0.01 T 1.000 D -0.717 T 1.0 D 0.959 D Pathogenic 1_144916748_C->G 1 144916748 144916748 C G snp 2103.77 0/1 99 162 75 87 0.54 exonic PDE4DIP AU nonsynonymous SNV NM_001002811 exon9 c.G2096C p.S699T 0.5 0.5 0.06 T 1 D -0.400 T 0.998 D 0.991 D Pathogenic 1_144917546_A->G 1 144917546 144917546 A G snp 1337.77 0/1 99 118 61 57 0.48 exonic PDE4DIP AU synonymous SNV NM_001002811 exon8 c.T2047C p.L683L 0.5 0.5 Uncertain 1_144917841_T->C 1 144917841 144917841 T C snp 530.77 0/1 99 53 31 22 0.42 exonic PDE4DIP AU nonsynonymous SNV NM_001002811 exon7 c.A1934G p.H645R 0.5 0.5 0.64 T 1 D -1.036 T 0.053 T 0.058 T Pathogenic 1_144918957_T->A 1 144918957 144918957 T A snp 3314.77 0/1 99 250 105 145 0.58 exonic PDE4DIP AU nonsynonymous SNV NM_001002811 exon6 c.A1718T p.E573V 0.5 0.5 0 D 1 D -1.092 T 1.0 D 0.998 D Pathogenic 1_144919094_C->T 1 144919094 144919094 C T snp 769.77 0/1 99 47 22 25 0.53 intronic NBPF20 AU NM_001278267 exon53 c.666373+94338C>T Uncertain 1_144921924_G->A 1 144921924 144921924 G A snp 4020.77 0/1 99 250 111 139 0.56 exonic PDE4DIP AU synonymous SNV NM_001002811 exon5 c.C1594T p.L532L 0.125712 0.1950 0.3985 Uncertain 1_144922109_A->G 1 144922109 144922109 A G snp 2718.77 0/1 99 250 151 99 0.4 intronic NBPF20 AU NM_001278267 exon53 c.666373+97353A>G Uncertain 1_144922171_C->T 1 144922171 144922171 C T snp 3652.77 0/1 99 250 124 126 0.5 intronic NBPF20 AU NM_001278267 exon53 c.666373+97415C>T 0.5 0.5 Uncertain 1_144922583_G->A 1 144922583 144922583 G A snp 3255.77 0/1 99 249 128 121 0.49 exonic PDE4DIP AU nonsynonymous SNV NM_001002811 exon3 c.C1313T p.S438L 0.5 0.5 0.01 T 1 D -0.958 T 0.723 T 0.172 P Pathogenic 1_144923535_A->G 1 144923535 144923535 A G snp 113.78 0/1 27 5 1 4 0.8 intronic NBPF20 AU NM_001278267 exon53 c.666373+98779A>G Uncertain 1_144923729_T->- 1 144923729 144923729 T - indel 3706.73 0/1 99 250 142 108 0.43 exonic PDE4DIP AU frameshift deletion NM_001002811 exon2 c.1218delA p.E406fs 0.185304 0.3988 0.1929 0.3985 Pathogenic 1_144923824_AGGAAGAAACGGCA->- 1 144923824 144923837 AGGAAGAAACGGCA - indel 24343.7 1/1 99 224 0 224 1.0 splicing rs11268079 PDE4DIP AU NM_001198834 exon39 c.71468+3_71468+16delAGGAAGAAACGGCA 0.903754 0.9911 0.826614 0.8329 0.9738 ID=COSM1600693,COSM1600691,COSM1600692,COSM1600690;OCCURENCE=1(liver) Pathogenic 1_144930441_G->T 1 144930441 144930441 G T snp 71.77 0/1 99 6 3 3 0.5 intronic NBPF20 AU NM_001278267 exon53 c.666373+105685G>T Uncertain 1_144930571_C->A 1 144930571 144930571 C A snp 1132.77 0/1 99 81 35 46 0.57 intronic NBPF20 AU NM_001278267 exon53 c.666373+105815C>A 0.5 0.5 Uncertain 1_144930596_C->A 1 144930596 144930596 C A snp 1484.77 0/1 99 106 46 60 0.57 exonic PDE4DIP AU synonymous SNV NM_001002811 exon1 c.G1113T p.P371P 0.5 0.5 Uncertain 1_144930940_T->C 1 144930940 144930940 T C snp 3147.77 0/1 99 240 117 123 0.51 exonic PDE4DIP AU nonsynonymous SNV NM_001002811 exon1 c.A769G p.K257E 0.5 0.5 1 T 1 D -1.113 T 0.763 T 0.311 P Pathogenic 1_144931330_C->T 1 144931330 144931330 C T snp 3042.77 0/1 99 250 134 116 0.46 exonic PDE4DIP AU nonsynonymous SNV NM_001002811 exon1 c.G379A p.A127T 0.5 0.5 0.02 T 1 D -1.152 T 1.0 D 0.988 D Pathogenic 1_144931392_G->A 1 144931392 144931392 G A snp 2426.77 0/1 99 249 151 98 0.39 exonic PDE4DIP AU nonsynonymous SNV NM_001002811 exon1 c.C317T p.A106V 0.5 0.5 0.32 T 0.994 N -0.938 T 0.036 T 0.01 T Pathogenic 1_144946510_C->T 1 144946510 144946510 C T snp 3384.77 1/1 99 109 0 109 1.0 intronic NBPF20 AU NM_001278267 exon53 c.666373+121754C>T 0.82508 0.744 Uncertain 1_144946768_G->A 1 144946768 144946768 G A snp 1915.77 0/1 99 140 75 65 0.46 intronic NBPF20 AU NM_001278267 exon53 c.666373+122012G>A 0.5 0.5 Uncertain 1_144946876_C->T 1 144946876 144946876 C T snp 144.77 0/1 99 9 4 5 0.56 intronic NBPF20 AU NM_001278267 exon53 c.666373+122120C>T Uncertain 1_144946883_G->C 1 144946883 144946883 G C snp 78.77 0/1 69 5 2 3 0.6 intronic NBPF20 AU NM_001278267 exon53 c.666373+122127G>C Uncertain 1_144951880_A->T 1 144951880 144951880 A T snp 208.77 0/1 99 52 38 14 0.27 intronic NBPF20 AU NM_001278267 exon53 c.666373+127124A>T Uncertain 1_144951973_T->C 1 144951973 144951973 T C snp 4634.77 0/1 99 250 88 162 0.65 intronic NBPF20 AU NM_001278267 exon53 c.666373+127217T>C Uncertain 1_144952078_C->A 1 144952078 144952078 C A snp 2148.77 0/1 99 250 164 86 0.34 intronic NBPF20 AU NM_001278267 exon53 c.666373+127322C>A 0.4999 0.5 Uncertain 1_144952220_C->T 1 144952220 144952220 C T snp 1232.77 0/1 99 250 172 78 0.31 exonic PDE4DIP AU nonsynonymous SNV NM_001198834 exon4 c.G499A p.A167T 0.5000 0.4998 0.22 T 1 D -1.034 T 0.132 T 0.042 T Pathogenic 1_144955288_A->G 1 144955288 144955288 A G snp 469.77 0/1 99 250 182 68 0.27 exonic PDE4DIP AU nonsynonymous SNV NM_001198834 exon2 c.T146C p.I49T 0.01 T 1 D -0.906 T 0.994 D 0.974 D Pathogenic 1_144994658_C->A 1 144994658 144994658 C A snp 3524.77 0/1 99 250 122 128 0.51 exonic PDE4DIP AU nonsynonymous SNV NM_001198834 exon1 c.G74T p.R25L 0.4998 0.5 0 D 1 D -0.625 T 1.0 D 1.0 D Pathogenic 1_144994861_C->T 1 144994861 144994861 C T snp 4079.77 0/1 99 250 115 135 0.54 UTR5 PDE4DIP AU Uncertain 1_145014053_T->C 1 145014053 145014053 T C snp 125.77 0/1 99 61 49 12 0.2 intronic NBPF20 AU NM_001278267 exon53 c.666373+189297T>C 0.3122 0.1039 Uncertain 1_145014103_G->C 1 145014103 145014103 G C snp 1126.77 0/1 99 105 57 48 0.46 intronic NBPF20 AU NM_001278267 exon53 c.666373+189347G>C 0.5 0.5 0 D 1.000 N -1.028 T Uncertain 1_145014263_C->T 1 145014263 145014263 C T snp 3233.06 0/1 99 250 134 116 0.46 intronic NBPF20 AU NM_001278267 exon53 c.666373+189507C>T 0.4998 0.5 Uncertain 1_145014394_C->T 1 145014394 145014394 C T snp 2957.77 0/1 99 196 90 106 0.54 intronic NBPF20 AU NM_001278267 exon53 c.666373+189638C>T Uncertain 1_145014411_T->C 1 145014411 145014411 T C snp 2524.77 0/1 99 145 60 85 0.59 intronic NBPF20 AU NM_001278267 exon53 c.666373+189655T>C Uncertain 1_145014436_G->A 1 145014436 145014436 G A snp 603.77 0/1 99 79 56 23 0.29 intronic NBPF20 AU NM_001278267 exon53 c.666373+189680G>A Uncertain 1_145016020_T->G 1 145016020 145016020 T G snp 6213.77 1/1 99 221 0 221 1.0 intronic NBPF20 AU NM_001278267 exon53 c.666373+191264T>G 0.935104 0.9593 0.965016 0.9661 0.9102 Uncertain 1_145016032_-->A 1 145016032 145016032 - A indel 2553.73 0/1 99 214 84 130 0.61 intronic NBPF20 AU NM_001278267 exon53 c.666373+191276insA 0.4472 0.4970 Uncertain 1_145017851_T->C 1 145017851 145017851 T C snp 139.77 0/1 99 21 12 9 0.43 intronic NBPF20 AU NM_001278267 exon53 c.666373+193095T>C Uncertain 1_145018023_G->T 1 145018023 145018023 G T snp 936.77 0/1 99 83 42 41 0.49 intronic NBPF20 AU NM_001278267 exon53 c.666373+193267G>T 0.5001 0.5 Uncertain 1_145020936_A->G 1 145020936 145020936 A G snp 237.77 0/1 99 21 13 8 0.38 intronic NBPF20 AU NM_001278267 exon53 c.666373+196180A>G Uncertain 1_145021024_G->C 1 145021024 145021024 G C snp 2141.77 0/1 99 165 88 77 0.47 intronic NBPF20 AU NM_001278267 exon53 c.666373+196268G>C Uncertain 1_145021034_C->A 1 145021034 145021034 C A snp 270.77 0/1 99 197 174 23 0.12 intronic NBPF20 AU NM_001278267 exon53 c.666373+196278C>A 0.269569 0.125 Uncertain 1_145021089_G->A 1 145021089 145021089 G A snp 3277.77 0/1 99 249 125 124 0.5 intronic NBPF20 AU NM_001278267 exon53 c.666373+196333G>A 0.3955 0.4736 Uncertain 1_145021265_A->G 1 145021265 145021265 A G snp 600.77 0/1 99 234 198 36 0.15 intronic NBPF20 AU NM_001278267 exon53 c.666373+196509A>G 0.28155 0.127 Uncertain 1_145038687_G->- 1 145038687 145038687 G - indel 442.73 0/1 99 32 19 13 0.41 intronic NBPF20 AU NM_001278267 exon53 c.666373+213931delG 0.324681 0.3849 Uncertain 1_145038736_C->G 1 145038736 145038736 C G snp 1464.77 0/1 99 112 60 52 0.46 intronic NBPF20 AU NM_001278267 exon53 c.666373+213980C>G Uncertain 1_145038815_A->G 1 145038815 145038815 A G snp 7412.77 1/1 99 250 0 250 1.0 intronic NBPF20 AU NM_001278267 exon53 c.666373+214059A>G 0.914537 0.9325 Uncertain 1_145038889_G->A 1 145038889 145038889 G A snp 308.77 0/1 99 250 216 34 0.14 intronic NBPF20 AU NM_001278267 exon53 c.666373+214133G>A 0.201078 0.2847 0.0989 0.2654 Uncertain 1_145038952_C->T 1 145038952 145038952 C T snp 2983.77 0/1 99 236 114 122 0.52 intronic NBPF20 AU NM_001278267 exon53 c.666373+214196C>T 0.488419 0.498 0.4998 0.5 Uncertain 1_145038954_G->T 1 145038954 145038954 G T snp 233.77 0/1 99 236 209 27 0.11 intronic NBPF20 AU NM_001278267 exon53 c.666373+214198G>T 0.216853 0.3234 0.0910 0.2840 Uncertain 1_145039026_T->C 1 145039026 145039026 T C snp 1114.77 0/1 99 111 64 47 0.42 intronic NBPF20 AU NM_001278267 exon53 c.666373+214270T>C Uncertain 1_145039562_C->T 1 145039562 145039562 C T snp 3027.77 0/1 99 250 135 115 0.46 intronic NBPF20 AU NM_001278267 exon53 c.666373+214806C>T 0.4997 0.4998 Uncertain 1_145039633_C->T 1 145039633 145039633 C T snp 374.77 0/1 99 250 217 33 0.13 intronic NBPF20 AU NM_001278267 exon53 c.666373+214877C>T 0.224241 0.1478 0.2089 0.0736 Uncertain 1_145039821_C->A 1 145039821 145039821 C A snp 106.77 0/1 99 99 88 11 0.11 intronic NBPF20 AU NM_001278267 exon53 c.666373+215065C>A Uncertain 1_145039831_A->G 1 145039831 145039831 A G snp 73.77 0/1 99 65 58 7 0.11 intronic NBPF20 AU NM_001278267 exon53 c.666373+215075A>G Uncertain 1_145039866_A->G 1 145039866 145039866 A G snp 207.77 0/1 99 11 4 7 0.64 intronic NBPF20 AU NM_001278267 exon53 c.666373+215110A>G Uncertain 1_145074882_G->T 1 145074882 145074882 G T snp 240.77 0/1 99 115 100 15 0.13 intronic NBPF20 AU NM_001278267 exon54 c.1154950-238451G>T 0.319089 0.3264 Uncertain 1_145074939_T->C 1 145074939 145074939 T C snp 2894.77 0/1 99 250 133 117 0.47 intronic NBPF20 AU NM_001278267 exon54 c.1154950-238394T>C 0.4997 0.4995 Uncertain 1_145075519_G->C 1 145075519 145075519 G C snp 103.77 0/1 99 16 11 5 0.31 intronic NBPF20 AU NM_001278267 exon54 c.1154950-237814G>C Uncertain 1_145075683_C->T 1 145075683 145075683 C T snp 2428.77 0/1 99 233 123 110 0.47 intronic NBPF20 AU NM_001278267 exon54 c.1154950-237650C>T 0.4999 0.5 1 T 1 A Uncertain 1_145075854_G->C 1 145075854 145075854 G C snp 3201.82 0/1 99 249 132 117 0.47 intronic NBPF20 AU NM_001278267 exon54 c.1154950-237479G>C 0.5000 0.5 Uncertain 1_145075903_C->T 1 145075903 145075903 C T snp 1646.77 0/1 99 248 178 70 0.28 intronic NBPF20 AU NM_001278267 exon54 c.1154950-237430C>T 0.324681 0.4256 0.3740 0.4279 Uncertain 1_145075923_C->T 1 145075923 145075923 C T snp 407.77 0/1 99 240 207 33 0.14 intronic NBPF20 AU NM_001278267 exon54 c.1154950-237410C>T 0.412141 0.3899 Uncertain 1_145103844_G->A 1 145103844 145103844 G A snp 1377.77 0/1 99 228 163 65 0.29 intronic rs2590144 NBPF20 AU NM_001278267 exon54 c.1154950-209489G>A Uncertain 1_145103928_G->A 1 145103928 145103928 G A snp 1782.77 0/1 99 250 178 72 0.29 exonic rs2596251 SEC22B AU unknown 0.340056 0.4454 0.3813 0.4323 Uncertain 1_145103947_T->C 1 145103947 145103947 T C snp 1570.77 0/1 99 249 179 70 0.28 exonic rs2794062 SEC22B AU unknown 0.4981 0.4967 Uncertain 1_145109430_A->T 1 145109430 145109430 A T snp 542.77 0/1 99 150 124 26 0.17 intronic NBPF20 AU NM_001278267 exon54 c.1154950-203903A>T Uncertain 1_145109456_C->T 1 145109456 145109456 C T snp 1560.77 0/1 99 250 178 72 0.29 intronic rs7553975 NBPF20 AU NM_001278267 exon54 c.1154950-203877C>T Uncertain 1_145109468_A->G 1 145109468 145109468 A G snp 8468.77 1/1 99 250 0 250 1.0 intronic rs2442652 NBPF20 AU NM_001278267 exon54 c.1154950-203865A>G 0.946885 0.9871 Uncertain 1_145109493_C->T 1 145109493 145109493 C T snp 1106.77 0/1 99 250 200 50 0.2 intronic rs2442651 NBPF20 AU NM_001278267 exon54 c.1154950-203840C>T 0.4457 0.4234 Uncertain 1_145109549_G->T 1 145109549 145109549 G T snp 1411.77 0/1 99 250 195 55 0.22 exonic rs2596331 SEC22B AU unknown 0.309100 0.4997 0.4988 Uncertain 1_145109583_C->A 1 145109583 145109583 C A snp 3998.77 0/1 99 249 125 124 0.5 exonic rs2794053 SEC22B AU unknown 0.5 0.5 Uncertain 1_145109661_G->A 1 145109661 145109661 G A snp 814.77 0/1 99 250 204 46 0.18 exonic rs2655551 SEC22B AU unknown 0.381220 0.4969 0.4982 Uncertain 1_145109809_T->A 1 145109809 145109809 T A snp 537.77 0/1 99 50 32 18 0.36 intronic rs2596327 NBPF20 AU NM_001278267 exon54 c.1154950-203524T>A Uncertain 1_145112285_C->T 1 145112285 145112285 C T snp 517.77 0/1 99 105 82 23 0.22 intronic rs139568698 NBPF20 AU NM_001278267 exon54 c.1154950-201048C>T 0.505591 0.502 Uncertain 1_145112287_T->C 1 145112287 145112287 T C snp 1300.77 0/1 99 108 61 47 0.44 intronic rs2794042 NBPF20 AU NM_001278267 exon54 c.1154950-201046T>C 0.505591 0.502 Uncertain 1_145112288_G->A 1 145112288 145112288 G A snp 488.77 0/1 99 113 90 23 0.2 intronic rs151321719 NBPF20 AU NM_001278267 exon54 c.1154950-201045G>A 0.505591 0.502 Uncertain 1_145112313_T->C 1 145112313 145112313 T C snp 1125.77 0/1 99 206 159 47 0.23 intronic rs2596302 NBPF20 AU NM_001278267 exon54 c.1154950-201020T>C Uncertain 1_145112414_T->C 1 145112414 145112414 T C snp 1564.77 0/1 99 250 191 59 0.24 exonic rs2590131 SEC22B AU unknown 0.372946 0.4987 0.4957 Uncertain 1_145112420_C->T 1 145112420 145112420 C T snp 1515.77 0/1 99 250 189 61 0.24 exonic rs2794041 SEC22B AU unknown 0.399395 0.4937 0.4942 Uncertain 1_145112428_C->T 1 145112428 145112428 C T snp 1601.77 0/1 99 250 182 68 0.27 exonic rs2794040 SEC22B AU unknown 0.4992 0.4965 Uncertain 1_145112485_C->T 1 145112485 145112485 C T snp 994.77 0/1 99 249 202 47 0.19 exonic rs2794039 SEC22B AU unknown 0.422732 0.4995 0.4979 Uncertain 1_145112501_C->T 1 145112501 145112501 C T snp 1510.77 0/1 99 250 182 68 0.27 exonic rs3871984 SEC22B AU unknown 0.023217 0.0723 0.2290 Uncertain 1_145115602_C->T 1 145115602 145115602 C T snp 173.77 0/1 99 29 22 7 0.24 intronic rs7540746 NBPF20 AU NM_001278267 exon54 c.1154950-197731C>T Uncertain 1_145115810_A->G 1 145115810 145115810 A G snp 3839.77 0/1 99 250 122 128 0.51 exonic rs2655557 SEC22B AU unknown 0.5000 0.5001 Uncertain 1_145115820_T->C 1 145115820 145115820 T C snp 1381.77 0/1 99 250 188 62 0.25 exonic rs2655558 SEC22B AU unknown 0.456714 0.4913 0.4952 Uncertain 1_145139088_-->G 1 145139088 145139088 - G indel 2671.73 1/1 99 64 0 64 1.0 intronic rs150935736 NBPF20 AU NM_001278267 exon54 c.1154950-174245insG Uncertain 1_145209330_G->C 1 145209330 145209330 G C snp 279.77 0/1 99 61 48 13 0.21 UTR5 rs1738644 NOTCH2NL AU 0.1468 0.1985 Uncertain 1_145209350_A->C 1 145209350 145209350 A C snp 48.77 0/1 77 57 47 10 0.18 UTR5 rs782761673 NOTCH2NL AU 0.0006 0.0003 Uncertain 1_145209366_A->G 1 145209366 145209366 A G snp 48.77 0/1 77 63 52 11 0.17 UTR5 rs856450 NOTCH2NL AU 0.0574 0.0149 Uncertain 1_145209613_CCCCGCCAACCGCCGGGGTT->- 1 145209613 145209632 CCCCGCCAACCGCCGGGGTT - indel 4965.73 0/1 99 64 8 56 0.88 intronic rs587749761 NBPF20 AU NM_001278267 exon54 c.1154950-103720_1154950-103701delCCCCGCCAACCGCCGGGGTT 0.421925 0.4256 Uncertain 1_145209819_C->T 1 145209819 145209819 C T snp 106.77 0/1 99 250 210 40 0.16 intronic rs860659 NBPF20 AU NM_001278267 exon54 c.1154950-103514C>T Uncertain 1_145209926_C->G 1 145209926 145209926 C G snp 455.77 0/1 99 194 153 41 0.21 intronic rs201021906 NBPF20 AU NM_001278267 exon54 c.1154950-103407C>G Uncertain 1_145210099_A->C 1 145210099 145210099 A C snp 131.77 0/1 99 38 32 6 0.16 intronic rs61814513 NBPF20 AU NM_001278267 exon54 c.1154950-103234A>C Uncertain 1_145248811_A->G 1 145248811 145248811 A G snp 49.77 0/1 78 250 224 26 0.1 splicing rs199902817 NOTCH2NL AU 0.2817 0.1804 Pathogenic 1_145273302_A->G 1 145273302 145273302 A G snp 1107.77 0/1 99 250 197 53 0.21 exonic rs10910778 NOTCH2NL AU synonymous SNV NM_203458 exon3 c.A156G p.R52R 0.3888 0.4285 Uncertain 1_145273345_T->C 1 145273345 145273345 T C snp 1092.77 0/1 99 249 201 48 0.19 exonic rs10910779 NOTCH2NL AU nonsynonymous SNV NM_203458 exon3 c.T199C p.S67P 0.4176 0.4537 0.28 T 0.998 N -1.086 T 0.95 T 0.719 D Pathogenic 1_145273431_A->G 1 145273431 145273431 A G snp 222.77 0/1 99 250 224 26 0.1 exonic rs1132928 NOTCH2NL AU synonymous SNV NM_203458 exon3 c.A285G p.Q95Q 0.2577 0.4192 Uncertain 1_145273473_T->C 1 145273473 145273473 T C snp 1431.77 0/1 99 244 185 59 0.24 intronic rs61813225 NBPF20 AU NM_001278267 exon54 c.1154950-39860T>C 0.4300 0.4644 Uncertain 1_145273520_G->A 1 145273520 145273520 G A snp 972.77 0/1 99 210 164 46 0.22 intronic rs2793994 NBPF20 AU NM_001278267 exon54 c.1154950-39813G>A Uncertain 1_145281247_T->A 1 145281247 145281247 T A snp 314.77 0/1 99 54 39 15 0.28 intronic rs2596060 NBPF20 AU NM_001278267 exon54 c.1154950-32086T>A Uncertain 1_145281408_C->T 1 145281408 145281408 C T snp 1197.77 0/1 99 249 196 53 0.21 exonic rs201164506 NOTCH2NL AU nonsynonymous SNV NM_203458 exon4 c.C338T p.P113L 0.4144 0.4439 0 D 1.000 D 1.040 D 1.0 D 1.0 D Pathogenic 1_145281541_C->G 1 145281541 145281541 C G snp 715.77 0/1 99 250 207 43 0.17 exonic rs782068490 NOTCH2NL AU synonymous SNV NM_203458 exon4 c.C471G p.G157G 0.0005 0.0059 Uncertain 1_145281543_C->T 1 145281543 145281543 C T snp 1846.77 0/1 99 250 181 69 0.28 exonic rs8002 NOTCH2NL AU nonsynonymous SNV NM_203458 exon4 c.C473T p.T158I 0.4808 0.4932 0.06 T 0.997 N -0.067 T 1.0 D 0.996 D Pathogenic 1_145281613_C->A 1 145281613 145281613 C A snp 1080.77 0/1 99 250 197 53 0.21 exonic rs12120756 NOTCH2NL AU nonsynonymous SNV NM_203458 exon4 c.C543A p.S181R 0.4148 0.4450 0.46 T 0.999 N -1.068 T 0.979 D 0.9 D Pathogenic 1_145281633_C->A 1 145281633 145281633 C A snp 1058.77 0/1 99 250 199 51 0.2 exonic rs28576333 NOTCH2NL AU nonsynonymous SNV NM_203458 exon4 c.C563A p.P188H 0.4053 0.4333 0.09 T 0.910 D -1.112 T 1.0 D 0.968 D Pathogenic 1_145281656_A->T 1 145281656 145281656 A T snp 930.77 0/1 99 250 200 50 0.2 exonic rs4649852 NOTCH2NL AU nonsynonymous SNV NM_203458 exon4 c.A586T p.T196S 0.3049 0.3416 0.09 T 0.985 N 0.007 D 0.999 D 0.987 D Pathogenic 1_145281780_T->A 1 145281780 145281780 T A snp 453.77 0/1 99 141 115 26 0.18 intronic rs190671398 NBPF20 AU NM_001278267 exon54 c.1154950-31553T>A Uncertain 1_145281824_T->G 1 145281824 145281824 T G snp 307.77 0/1 99 94 78 16 0.17 intronic rs4089950 NBPF20 AU NM_001278267 exon54 c.1154950-31509T>G Uncertain 1_145282093_G->A 1 145282093 145282093 G A snp 1648.77 0/1 99 178 114 64 0.36 UTR3 rs976689 NOTCH2NL AU Uncertain 1_145457714_C->A 1 145457714 145457714 C A snp 37.77 0/1 66 7 5 2 0.29 intronic rs2296959 NBPF10 AU NM_001302371 exon68 c.72054+92255C>A 0.0205671 0.0903 Uncertain 1_145477257_T->C 1 145477257 145477257 T C snp 281.77 0/1 99 31 18 13 0.42 exonic rs2282013 LIX1L AU synonymous SNV NM_153713 exon1 c.T99C p.A33A 0.114217 0.2123 0.1219 0.1111 Uncertain 1_145507826_A->T 1 145507826 145507826 A T snp 509.77 0/1 99 40 17 23 0.57 intronic rs872786 NBPF10 AU NM_001302371 exon68 c.72054+142367A>T 0.288738 0.4345 CLINSIG=non-pathogenic;CLNDBN=not_provided;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000097479.2;CLNDSDB=MedGen;CLNDSDBID=CN221809 Uncertain 1_145510376_A->G 1 145510376 145510376 A G snp 287.78 1/1 27 11 0 11 1.0 ncRNA_intronic GNRHR2 AU 0.797125 0.8274 Uncertain 1_145516481_T->G 1 145516481 145516481 T G snp 158.77 0/1 99 64 42 22 0.34 intronic NBPF10 AU NM_001302371 exon68 c.72054+151022T>G Uncertain 1_145531980_T->C 1 145531980 145531980 T C snp 723.77 1/1 57 20 0 20 1.0 intronic rs4384171 ITGA10 AU NM_001303041 exon4 c.7049-134T>C 0.988019 1 Uncertain 1_145532010_-->TG 1 145532010 145532010 - TG indel 529.73 0/1 99 44 24 20 0.45 intronic rs55794832 ITGA10 AU NM_001303041 exon4 c.7049-104insTG Uncertain 1_145532052_A->G 1 145532052 145532052 A G snp 36.77 0/1 65 85 71 14 0.16 intronic rs28369274 ITGA10 AU NM_001303041 exon4 c.7049-62A>G Uncertain 1_145532549_T->C 1 145532549 145532549 T C snp 3593.77 1/1 99 129 0 129 1.0 exonic rs1328584 ITGA10 AU synonymous SNV NM_001303041 exon5 c.T573C p.F191F 0.988019 1 0.988159 0.9967 1 Uncertain 1_145535921_T->C 1 145535921 145535921 T C snp 3497.77 0/1 99 250 114 136 0.54 intronic rs2274617 ITGA10 AU NM_001303041 exon12 c.10836+20T>C 0.58766 0.4454 0.668076 0.6091 0.4481 Uncertain 1_145538664_A->G 1 145538664 145538664 A G snp 721.77 0/1 99 54 25 29 0.54 intronic rs1109216 ITGA10 AU NM_001303041 exon20 c.13658-59A>G 0.585663 0.4415 Uncertain 1_145555653_C->T 1 145555653 145555653 C T snp 2956.77 0/1 99 249 130 119 0.48 intronic rs6424379 ANKRD35 AU NM_144698 exon2 c.6375-38C>T 0.40655 0.3085 0.537598 0.5129 0.3067 Uncertain 1_145558565_C->G 1 145558565 145558565 C G snp 1190.77 1/1 87 37 0 37 1.0 intronic rs11801520 ANKRD35 AU NM_144698 exon6 c.9196+53C>G 0.946885 1 0.952694 Uncertain 1_145561594_C->T 1 145561594 145561594 C T snp 7828.77 1/1 99 250 1 249 1.0 exonic rs6670984 ANKRD35 AU nonsynonymous SNV NM_001280799 exon8 c.C1012T p.P338S 0.564696 0.7252 0.422036 0.4587 0.7298 0.75 T 0.0 P -1.089 T 0.001 T 0.002 T Pathogenic 1_145562881_T->C 1 145562881 145562881 T C snp 1867.77 1/1 99 63 0 63 1.0 exonic rs10910824 ANKRD35 AU synonymous SNV NM_001280799 exon8 c.T2299C p.L767L 0.588858 0.7252 0.455735 0.5038 0.7344 Uncertain 1_145566535_C->T 1 145566535 145566535 C T snp 2442.77 1/1 99 81 0 81 1.0 intronic rs1819347 ANKRD35 AU NM_144698 exon11 c.17369-150C>T 0.56869 0.7063 Uncertain 1_145585317_A->G 1 145585317 145585317 A G snp 2086.77 1/1 99 74 0 74 1.0 intronic rs4128488 NBPF10 AU NM_001302371 exon68 c.72054+219858A>G 0.919928 1 0.919576 0.9749 1 Uncertain 1_145586403_G->T 1 145586403 145586403 G T snp 50.74 1/1 6 2 0 2 1.0 UTR3 rs1050057 PIAS3 AU 0.909145 1 Uncertain 1_145586780_T->C 1 145586780 145586780 T C snp 2710.77 0/1 99 246 123 123 0.5 intronic rs10910829 NBPF10 AU NM_001302371 exon68 c.72054+221321T>C 0.269169 0.4196 0.234507 0.3053 0.4102 Uncertain 1_145588536_C->T 1 145588536 145588536 C T snp 2976.77 0/1 99 250 128 122 0.49 intronic NBPF10 AU NM_001302371 exon68 c.72054+223077C>T 0.698682 0.8353 0.628340 Uncertain 1_145589491_A->T 1 145589491 145589491 A T snp 96.28 1/1 9 3 0 3 1.0 intronic NBPF10 AU NM_001302371 exon68 c.72054+224032A>T 0.949281 1 Uncertain 1_145597116_C->T 1 145597116 145597116 C T snp 2301.77 1/1 99 76 0 76 1.0 intronic rs9728311 NBPF10 AU NM_001302371 exon68 c.72054+231657C>T 0.959665 1 Uncertain 1_145597417_C->A 1 145597417 145597417 C A snp 310.77 0/1 99 47 29 18 0.38 intronic rs9728345 NBPF10 AU NM_001302371 exon68 c.72054+231958C>A 0.201078 0.1548 Uncertain 1_145598459_T->C 1 145598459 145598459 T C snp 4194.77 1/1 99 130 0 130 1.0 intronic rs9729715 NBPF10 AU NM_001302371 exon68 c.72054+233000T>C 0.960064 1 Uncertain 1_145601861_G->A 1 145601861 145601861 G A snp 4179.77 1/1 99 146 0 146 1.0 intronic rs9286837 NBPF10 AU NM_001302371 exon68 c.72054+236402G>A 0.96885 1 0.970475 0.9910 1 Uncertain 1_145696694_G->A 1 145696694 145696694 G A snp 2115.77 0/1 99 168 78 90 0.54 intronic rs2231375 CD160 AU NM_007053 exon1 c.8+94G>A 0.205072 0.1558 0.274420 Uncertain 1_145826770_G->A 1 145826770 145826770 G A snp 369.77 0/1 99 23 11 12 0.52 intronic rs34955113 GPR89A AU NM_001097613 exon15 c.61869-117G>A 0.404752 0.4206 Uncertain 1_146316483_C->G 1 146316483 146316483 C G snp 1978.77 1/1 99 70 0 70 1.0 intronic rs373572280 NBPF10 AU NM_001302371 exon69 c.1127505-104427C>G Uncertain 1_146316492_C->A 1 146316492 146316492 C A snp 2157.77 1/1 99 79 0 79 1.0 intronic rs372657169 NBPF10 AU NM_001302371 exon69 c.1127505-104418C>A Uncertain 1_146317771_C->A 1 146317771 146317771 C A snp 912.77 0/1 99 124 83 41 0.33 intronic rs376457100 NBPF10 AU NM_001302371 exon69 c.1127505-103139C>A Uncertain 1_146334172_G->A 1 146334172 146334172 G A snp 662.77 0/1 99 52 25 27 0.52 intronic rs377555855 NBPF10 AU NM_001302371 exon69 c.1127505-86738G>A Uncertain 1_146633933_G->A 1 146633933 146633933 G A snp 1759.77 1/1 99 64 0 64 1.0 intronic rs1036852 PRKAB2 AU NM_005399 exon3 c.2875-85G>A 0.714457 0.8532 Uncertain 1_146643555_A->G 1 146643555 146643555 A G snp 2566.77 1/1 99 98 0 98 1.0 intronic rs1348316 PRKAB2 AU NM_005399 exon7 c.12424-12A>G 0.669529 0.8542 0.490306 0.5236 0.8360 Uncertain 1_146650058_T->C 1 146650058 146650058 T C snp 2150.77 1/1 99 65 0 65 1.0 ncRNA_exonic PDIA3P1 AU 0.23123 0.5278 0.2036 0.5814 Uncertain 1_146656292_A->G 1 146656292 146656292 A G snp 1122.77 1/1 81 40 0 40 1.0 intergenic rs4950385 PDIA3P1 AU 0.904752 0.9861 Uncertain 1_146672906_C->T 1 146672906 146672906 C T snp 5722.77 1/1 99 206 0 206 1.0 exonic rs894469 FMO5 AU synonymous SNV NM_001461 exon7 c.G1011A p.P337P 0.895767 0.9871 0.894972 0.9209 0.9832 Uncertain 1_146673178_A->G 1 146673178 146673178 A G snp 664.77 1/1 51 18 0 18 1.0 intronic rs6683215 FMO5 AU NM_001144829 exon3 c.17016+92A>G 0.970647 0.9881 Uncertain 1_146680262_A->G 1 146680262 146680262 A G snp 1564.77 1/1 99 46 0 46 1.0 intronic rs2354433 FMO5 AU NM_001144829 exon4 c.24343-151A>G 0.895767 0.9871 Uncertain 1_146684131_G->A 1 146684131 146684131 G A snp 2302.77 1/1 99 70 0 70 1.0 intronic rs2297753 FMO5 AU NM_001144829 exon5 c.28033+28G>A 0.166933 0.3998 0.054590 0.1382 0.4147 Uncertain 1_146685121_G->A 1 146685121 146685121 G A snp 890.77 1/1 66 24 0 24 1.0 intronic rs1530336 FMO5 AU NM_001144829 exon6 c.28967+84G>A 0.895367 0.9871 Uncertain 1_146687250_A->T 1 146687250 146687250 A T snp 1602.77 1/1 99 44 0 44 1.0 intronic rs1822312 FMO5 AU NM_001144829 exon7 c.31253-73A>T 0.959665 0.9881 Uncertain 1_146714392_G->C 1 146714392 146714392 G C snp 1178.77 1/1 87 43 0 43 1.0 exonic CHD1L AU synonymous SNV NM_004284 exon1 c.G39C p.A13A 0.535343 0.5417 0.5616 0.5392 Uncertain 1_146714588_C->T 1 146714588 146714588 C T snp 835.77 1/1 63 28 0 28 1.0 intronic CHD1L AU NM_001256338 exon1 c.127+108C>T 0.538339 0.5427 Uncertain 1_146723941_C->T 1 146723941 146723941 C T snp 2813.77 1/1 99 93 0 93 1.0 intronic CHD1L AU NM_004284 exon2 c.9924-336C>T 0.252196 0.4226 Uncertain 1_146724093_A->G 1 146724093 146724093 A G snp 1731.77 1/1 99 48 0 48 1.0 intronic CHD1L AU NM_004284 exon2 c.9924-184A>G 0.968051 0.9881 Uncertain 1_146724321_C->T 1 146724321 146724321 C T snp 2681.77 0/1 99 186 79 107 0.58 exonic CHD1L AU synonymous SNV NM_004284 exon2 c.C171T p.L57L 0.000399361 0.002 0.0001 0.0019 Uncertain 1_146727593_G->A 1 146727593 146727593 G A snp 2039.77 1/1 99 72 0 72 1.0 intronic CHD1L AU NM_024568 exon4 c.959+11G>A 0.252196 0.4226 0.135553 0.1906 0.4579 Uncertain 1_146728162_-->A 1 146728162 146728162 - A indel 3058.73 1/1 99 73 0 73 1.0 intronic rs61409326 CHD1L AU NM_024568 exon5 c.1561-22insA 0.966853 0.9881 0.954705 0.9666 0.9844 Uncertain 1_146739277_T->C 1 146739277 146739277 T C snp 5814.77 1/1 99 204 0 204 1.0 intronic CHD1L AU NM_024568 exon9 c.12554+100T>C 0.570288 0.5556 Uncertain 1_146740576_G->A 1 146740576 146740576 G A snp 4157.77 1/1 99 157 0 157 1.0 intronic CHD1L AU NM_024568 exon10 c.13914+39G>A 0.73722 0.6667 0.798524 0.8196 0.6442 Uncertain 1_146747153_T->C 1 146747153 146747153 T C snp 3694.77 1/1 99 135 0 135 1.0 intronic CHD1L AU NM_024568 exon13 c.20508+22T>C 0.717053 0.6667 0.776180 0.8079 0.6456 Uncertain 1_146747232_C->T 1 146747232 146747232 C T snp 888.77 1/1 66 29 0 29 1.0 intronic CHD1L AU NM_024568 exon13 c.20508+101C>T 0.336262 0.4216 Uncertain 1_146748009_AGCCA->- 1 146748009 146748013 AGCCA - indel 1656.73 1/1 63 31 0 31 1.0 intronic rs3831929 CHD1L AU NM_024568 exon14 c.21298+88_21298+92delAGCCA 0.336262 0.4216 Uncertain 1_146748072_A->G 1 146748072 146748072 A G snp 182.9 1/1 15 5 0 5 1.0 intronic CHD1L AU NM_024568 exon14 c.21298+151A>G 0.98762 1 Uncertain 1_146751782_A->C 1 146751782 146751782 A C snp 1534.77 1/1 99 58 0 58 1.0 exonic CHD1L AU synonymous SNV NM_004284 exon15 c.A1623C p.I541I 0.967851 0.9881 0.953714 0.9658 0.9844 Uncertain 1_146756223_AAAC->- 1 146756223 146756226 AAAC - indel 2144.73 1/1 99 48 0 48 1.0 intronic rs67503815 CHD1L AU NM_024568 exon16 c.29549+51_29549+54delAAAC 0.32528 0.3919 0.316918 0.3244 0.3757 Uncertain 1_146759528_A->G 1 146759528 146759528 A G snp 887.77 1/1 66 26 0 26 1.0 intronic CHD1L AU NM_024568 exon19 c.32789+116A>G 0.319089 0.4514 Uncertain 1_146763089_G->A 1 146763089 146763089 G A snp 3546.77 1/1 99 117 0 117 1.0 intronic CHD1L AU NM_024568 exon20 c.36540-74G>A 0.823882 0.8958 Uncertain 1_146763415_T->C 1 146763415 146763415 T C snp 858.77 1/1 63 22 0 22 1.0 intronic CHD1L AU NM_024568 exon20 c.36611+181T>C 0.823682 0.8948 Uncertain 1_146763438_A->G 1 146763438 146763438 A G snp 427.77 1/1 33 11 0 11 1.0 intronic CHD1L AU NM_024568 exon20 c.36611+204A>G 0.953075 0.9881 Uncertain 1_146766069_-->AT 1 146766069 146766069 - AT indel 3398.73 1/1 99 62 0 62 1.0 intronic rs71083827 CHD1L AU NM_024568 exon22 c.39467-21insAT 0.968051 0.9881 0.954480 0.9665 0.9843 Uncertain 1_146767149_G->T 1 146767149 146767149 G T snp 1518.77 1/1 99 56 0 56 1.0 exonic CHD1L AU nonsynonymous SNV NM_004284 exon23 c.G2653T p.A885S 0.968051 0.9881 0.954559 0.9666 0.9843 1 T 0.0 P -1.054 T 0.0 T 0.0 T Pathogenic 1_146767320_A->G 1 146767320 146767320 A G snp 511.77 1/1 39 17 0 17 1.0 UTR3 CHD1L AU 0.823882 0.8958 Uncertain 1_147083744_C->T 1 147083744 147083744 C T snp 403.77 0/1 99 47 28 19 0.4 intronic rs677977 BCL9 AU NM_004326 exon4 c.53+56C>T 0.305911 0.2778 0.287122 Uncertain 1_147087721_T->A 1 147087721 147087721 T A snp 1844.77 0/1 99 139 62 77 0.55 intronic rs3737843 BCL9 AU NM_004326 exon7 c.4067+19T>A 0.316693 0.4028 0.370368 0.4461 0.4361 Uncertain 1_147096794_A->G 1 147096794 147096794 A G snp 782.77 0/1 99 53 26 27 0.51 UTR3 rs867270 BCL9 AU 0.838259 0.7093 0.886059 0.8661 0.6681 Uncertain 1_147096828_C->G 1 147096828 147096828 C G snp 680.77 1/1 51 20 0 20 1.0 UTR3 rs946902 BCL9 AU 0.963458 1 Uncertain 1_147121977_C->T 1 147121977 147121977 C T snp 1322.77 1/1 96 43 0 43 1.0 exonic rs6593795 ACP6 AU nonsynonymous SNV NM_016361 exon8 c.G946A p.V316M 0.984425 1 0.985468 0.9958 1 0.19 T 0.0 P -1.028 T 0.588 P 0.089 P Pathogenic 1_147124310_T->G 1 147124310 147124310 T G snp 552.77 0/1 99 53 29 24 0.45 exonic rs2153463 ACP6 AU synonymous SNV NM_016361 exon7 c.A823C p.R275R 0.725665 0.7107 0.7137 Uncertain 1_147131465_T->C 1 147131465 147131465 T C snp 582.77 0/1 99 44 18 26 0.59 intronic rs6674938 ACP6 AU NM_016361 exon8 c.12286-45T>C 0.701278 0.7163 0.718438 0.7109 0.7116 Uncertain 1_147131710_A->C 1 147131710 147131710 A C snp 1392.77 0/1 99 126 69 57 0.45 intronic rs3818888 ACP6 AU NM_016361 exon9 c.12537-51A>C 0.132987 0.2927 0.090862 Uncertain 1_147131945_T->C 1 147131945 147131945 T C snp 83.77 0/1 28 4 1 3 0.75 intronic rs2275552 ACP6 AU NM_016361 exon9 c.12666+55T>C 0.70028 0.7163 Uncertain 1_147142296_T->C 1 147142296 147142296 T C snp 74.77 0/1 99 10 7 3 0.3 UTR5 rs2883202 ACP6 AU 0.483227 0.6141 Uncertain 1_147230217_T->C 1 147230217 147230217 T C snp 2987.77 1/1 99 94 0 94 1.0 UTR3 GJA5 AD 0.880391 0.9018 Uncertain 1_147381397_-->A 1 147381397 147381397 - A indel 587.73 ./1 99 74 7 67 0.91 downstream GJA8 AD 0.369409 0.4246 0.4152 0.4210 Uncertain 1_147381398_A->- 1 147381398 147381398 A - indel 587.73 ./1 99 74 7 67 0.91 downstream GJA8 AD 0.1588 0.1010 Uncertain 1_147381444_A->C 1 147381444 147381444 A C snp 278.77 0/1 99 26 14 12 0.46 downstream GJA8 AD 0.63758 0.7034 Uncertain 1_147806559_C->T 1 147806559 147806559 C T snp 1063.77 0/1 99 87 45 42 0.48 downstream MIR5087 AU 0.616414 0.628 0.75 1 Uncertain 1_147806874_G->C 1 147806874 147806874 G C snp 435.77 0/1 99 33 16 17 0.52 upstream MIR5087 AU 0.666534 0.629 Uncertain 1_147806880_T->C 1 147806880 147806880 T C snp 959.77 1/1 72 28 0 28 1.0 upstream MIR5087 AU 0.973642 1 Uncertain 1_149379515_C->T 1 149379515 149379515 C T snp 49.77 0/1 48 12 9 3 0.25 intergenic FCGR1C AU Uncertain 1_149676264_T->C 1 149676264 149676264 T C snp 259.77 0/1 99 170 145 25 0.15 intergenic rs199745503 LOC103091866 AU 0.1107 0.1071 Uncertain 1_149676401_A->G 1 149676401 149676401 A G snp 1291.77 0/1 99 163 91 72 0.44 intergenic rs630607 LOC103091866 AU 0.4998 0.5 1 T 1 N -0.927 T Uncertain 1_149760214_C->G 1 149760214 149760214 C G snp 2321.77 0/1 99 166 73 93 0.56 intronic FCGR1A AU NM_000566 exon4 c.5874+41C>G 0.0141773 0.0685 0.0056 0.0754 Uncertain 1_149764430_CGAGT->- 1 149764430 149764434 CGAGT - indel 1281.73 1/1 48 17 0 17 1.0 intronic HIST2H2BF AU NM_001161334 exon1 c.28+9614_28+9618delCGAGT 0.238219 0.3571 0.1887 0.375 Uncertain 1_149764702_GAG->- 1 149764702 149764704 GAG - indel 324.73 0/1 99 12 5 7 0.58 intronic HIST2H2BF AU NM_001161334 exon1 c.28+9886_28+9888delGAG 0.0081869 0.0407 0.0018 0.0833 Uncertain 1_149905279_G->A 1 149905279 149905279 G A snp 1161.77 0/1 99 98 45 53 0.54 intronic MTMR11 AU NM_181873 exon9 c.4540-19G>A 0.179912 0.3403 0.112333 0.1790 0.3301 Uncertain 1_149908108_A->G 1 149908108 149908108 A G snp 940.77 0/1 99 86 43 43 0.5 exonic MTMR11 AU synonymous SNV NM_001145862 exon2 c.T81C p.N27N 0.416733 0.3571 0.380132 0.3108 0.3401 Uncertain 1_149931541_G->A 1 149931541 149931541 G A snp 876.77 0/1 99 59 27 32 0.54 intronic rs4926400 OTUD7B AU NM_020205 exon6 c.15847-61G>A 0.191094 0.3433 Uncertain 1_150055021_G->A 1 150055021 150055021 G A snp 427.77 1/1 33 11 0 11 1.0 intronic rs3736082 VPS45 AR NM_007259 exon10 c.15053+54G>A 0.132788 0.2708 Uncertain 1_150122493_T->C 1 150122493 150122493 T C snp 798.77 1/1 57 33 0 33 1.0 intronic PLEKHO1 AU NM_016274 exon1 c.30+16T>C 0.992812 1 0.9983 1 Uncertain 1_150123132_C->G 1 150123132 150123132 C G snp 1285.77 0/1 99 124 70 54 0.44 exonic PLEKHO1 AU nonsynonymous SNV NM_016274 exon2 c.C61G p.P21A 0.0219649 0.1052 0.000692 0.0102 0.1140 0.61 T 1.000 N -0.925 T 0.0 T 0.0 T Pathogenic 1_150128425_C->T 1 150128425 150128425 C T snp 1322.77 1/1 96 45 0 45 1.0 intronic PLEKHO1 AU NM_016274 exon3 c.5953+25C>T 0.766973 0.999 0.706597 0.8383 1 Uncertain 1_150129267_G->A 1 150129267 150129267 G A snp 504.77 1/1 39 18 0 18 1.0 intronic PLEKHO1 AU NM_016274 exon4 c.6762+58G>A 0.979832 1 0.978975 Uncertain 1_150199040_TCCTCT->- 1 150199040 150199045 TCCTCT - indel 1526.73 0/1 99 50 28 22 0.44 exonic rs56692627 ANP32E AU nonframeshift deletion NM_001136478 exon4 c.453_458del p.151_153del 0.350639 0.5446 0.202763 0.3069 0.4898 Uncertain 1_150199123_G->T 1 150199123 150199123 G T snp 674.77 0/1 99 74 40 34 0.46 exonic rs7522034 ANP32E AU nonsynonymous SNV NM_001280560 exon4 c.C332A p.A111E 0.602037 0.5456 0.553514 0.4619 0.4921 0.55 T 1.000 P -1.083 T 0.0 T 0.0 T Pathogenic 1_150203082_-->T 1 150203082 150203082 - T indel 179.86 0/1 2 32 2 30 0.94 intronic rs11412482 ANP32E AU NM_001136479 exon5 c.10036+54insT 0.360024 0.4673 Uncertain 1_150203985_T->- 1 150203985 150203985 T - indel 865.73 1/1 60 20 0 20 1.0 intronic rs113913866 ANP32E AU NM_001136479 exon6 c.11122-129delT 0.345248 0.622 Uncertain 1_150241230_G->T 1 150241230 150241230 G T snp 3165.77 1/1 99 119 2 117 0.98 UTR5 APH1A AU 0.150559 0.38 0.088827 0.1662 0.3916 Uncertain 1_150249101_C->A 1 150249101 150249101 C A snp 1038.77 1/1 75 34 0 34 1.0 intronic rs11205354 C1orf54 AU NM_024579 exon4 c.3820+61C>A 0.6877 0.6915 Uncertain 1_150255587_T->C 1 150255587 150255587 T C snp 391.77 1/1 30 11 0 11 1.0 UTR5 rs2147324 CIART AU 0.730631 0.7788 Uncertain 1_150258838_C->G 1 150258838 150258838 C G snp 3458.77 1/1 99 120 0 120 1.0 splicing rs1122967 CIART AU NM_001300838 exon6 c.3164-3C>G 0.747804 0.7738 0.636629 0.5977 0.7658 Pathogenic 1_150259400_A->C 1 150259400 150259400 A C snp 2367.77 1/1 99 73 0 73 1.0 UTR3 rs9126 CIART AU 0.513978 0.7163 0.386898 0.4400 0.7185 Uncertain 1_150276429_G->A 1 150276429 150276429 G A snp 1407.77 1/1 99 51 0 51 1.0 intronic rs471738 MRPS21 AU NM_031901 exon3 c.13695-4052G>A 0.599042 0.7748 Uncertain 1_150276461_G->A 1 150276461 150276461 G A snp 801.77 1/1 60 27 0 27 1.0 intronic rs471657 MRPS21 AU NM_031901 exon3 c.13695-4020G>A 0.515575 0.7183 Uncertain 1_150277387_T->C 1 150277387 150277387 T C snp 350.78 1/1 27 12 0 12 1.0 intronic rs11205359 MRPS21 AU NM_031901 exon3 c.13695-3094T>C 0.599042 0.7748 0.5107 0.7295 Uncertain 1_150280801_G->C 1 150280801 150280801 G C snp 88.28 1/1 9 3 0 3 1.0 UTR3 rs8006 MRPS21 AU 0.598642 0.7748 Uncertain 1_150281202_A->C 1 150281202 150281202 A C snp 1463.77 1/1 99 47 0 47 1.0 UTR3 rs580060 MRPS21 AU 0.773962 0.7768 Uncertain 1_150281501_A->C 1 150281501 150281501 A C snp 157.9 1/1 15 5 0 5 1.0 downstream rs1260396 MRPS21 AU 0.772963 0.7768 Uncertain 1_150284494_A->- 1 150284494 150284494 A - indel 509.73 1/1 39 13 0 13 1.0 intergenic MRPS21 AU 0.491613 0.7183 Uncertain 1_150464264_A->G 1 150464264 150464264 A G snp 134.77 0/1 99 13 7 6 0.46 intronic TARS2 AR NM_025150 exon6 c.4212+126A>G Uncertain 1_150469480_C->T 1 150469480 150469480 C T snp 563.77 1/1 42 22 0 22 1.0 intronic rs12119249 TARS2 AR NM_025150 exon9 c.9458+96C>T 0.171925 0.4524 Uncertain 1_150485531_T->C 1 150485531 150485531 T C snp 99.28 1/1 9 3 0 3 1.0 intronic rs945715 ECM1 AR NM_004425 exon10 c.5027-181T>C 0.980631 1 Uncertain 1_150485571_T->C 1 150485571 150485571 T C snp 570.77 1/1 42 19 0 19 1.0 intronic rs12031974 ECM1 AR NM_004425 exon10 c.5027-141T>C 0.999401 1 Uncertain 1_150526044_G->C 1 150526044 150526044 G C snp 6347.77 1/1 99 235 0 235 1.0 exonic rs41317515 ADAMTSL4 AR nonsynonymous SNV NM_019032 exon6 c.G577C p.A193P 0.528355 0.5675 0.547055 0.5231 0.5486 0.3 T 0.0 P -1.058 T 0.0 T 0.0 T Pathogenic 1_150526406_C->T 1 150526406 150526406 C T snp 987.77 0/1 99 84 41 43 0.51 exonic rs6681639 ADAMTSL4 AR synonymous SNV NM_019032 exon6 c.C939T p.G313G 0.347244 0.3056 0.355446 0.3038 0.3056 Uncertain 1_150528090_-->ACAC 1 150528090 150528090 - ACAC indel 1840.73 1/1 79 43 1 42 0.98 intronic rs10687239 ADAMTSL4 AR NM_001288607 exon9 c.3277+49insACAC 0.6596 0.7971 Uncertain 1_150528118_-->ACAC 1 150528118 150528118 - ACAC indel 1223.73 1/1 57 27 0 27 1.0 intronic rs10687240 ADAMTSL4 AR NM_001288607 exon9 c.3277+77insACAC 0.689097 0.8363 Uncertain 1_150528176_CA->- 1 150528176 150528177 CA - indel 266.8 1/1 18 7 0 7 1.0 intronic rs35233292 ADAMTSL4 AR NM_001288607 exon9 c.3277+135_3277+136delCA 0.714657 0.8403 Uncertain 1_150528208_C->T 1 150528208 150528208 C T snp 129.03 1/1 12 4 0 4 1.0 intronic rs9728540 ADAMTSL4 AR NM_001288607 exon9 c.3277+167C>T 0.525559 0.5556 Uncertain 1_150529322_-->AA 1 150529322 150529322 - AA indel 2828.73 1/1 99 52 0 52 1.0 intronic rs34379037 ADAMTSL4 AR NM_001288607 exon11 c.4505+53insAA 0.945887 0.999 Uncertain 1_150530273_C->A 1 150530273 150530273 C A snp 73.77 0/1 99 12 8 4 0.33 intronic ADAMTSL4 AR NM_001288607 exon15 c.5656-147C>A Uncertain 1_150530274_C->A 1 150530274 150530274 C A snp 67.77 0/1 96 12 8 4 0.33 intronic rs375427068 ADAMTSL4 AR NM_001288607 exon15 c.5656-146C>A 0.120208 0.2996 Uncertain 1_150531008_T->C 1 150531008 150531008 T C snp 5047.77 1/1 99 174 0 174 1.0 exonic rs10888382 ADAMTSL4 AR synonymous SNV NM_019032 exon15 c.T2442C p.N814N 0.814497 0.8373 0.867523 0.9067 0.8448 Uncertain 1_150531050_G->A 1 150531050 150531050 G A snp 5542.77 1/1 99 201 0 201 1.0 exonic rs10749657 ADAMTSL4 AR synonymous SNV NM_019032 exon15 c.G2484A p.P828P 0.878395 0.9831 0.843534 0.8676 0.9745 Uncertain 1_150531170_C->T 1 150531170 150531170 C T snp 5039.77 1/1 99 181 1 180 0.99 intronic rs10749658 ADAMTSL4 AR NM_001288607 exon16 c.6361+45C>T 0.921526 1 0.915962 0.9768 1 Uncertain 1_150531380_T->C 1 150531380 150531380 T C snp 1375.77 1/1 99 43 0 43 1.0 intronic rs11204664 ADAMTSL4 AR NM_001288607 exon17 c.6673-57T>C 0.524161 0.6915 Uncertain 1_150549737_GCTAGGTT->- 1 150549737 150549744 GCTAGGTT - indel 2506.73 0/1 99 44 17 27 0.61 UTR3 rs3841831 MCL1 AU 0.0265575 0.122 Uncertain 1_150550019_-->A 1 150550019 150550019 - A indel 1818.73 1/1 99 46 0 46 1.0 intronic rs11428742 MCL1 AU NM_182763 exon1 c.128+52insA 1 1 0.9999 1 Uncertain 1_150600181_C->T 1 150600181 150600181 C T snp 1208.77 1/1 87 43 0 43 1.0 intronic rs2280078 ENSA AU NM_207042 exon4 c.4749+113C>T 0.612021 0.6409 Uncertain 1_150634472_A->G 1 150634472 150634472 A G snp 1452.77 0/1 99 93 39 54 0.58 intronic rs3754207 GOLPH3L AU NM_018178 exon2 c.13608+68A>G 0.0790735 0.1736 Uncertain 1_150727394_G->A 1 150727394 150727394 G A snp 428.77 0/1 99 31 17 14 0.45 intronic rs11576175 CTSS AU NM_004079 exon5 c.21955-82G>A 0.0792732 0.1726 Uncertain 1_150771703_T->C 1 150771703 150771703 T C snp 6393.77 1/1 99 240 3 237 0.99 exonic rs10788796 CTSK AR synonymous SNV NM_000396 exon7 c.A831G p.A277A 0.963259 0.9931 0.977856 0.9887 0.9946 Uncertain 1_150779556_T->A 1 150779556 150779556 T A snp 56.74 1/1 6 2 0 2 1.0 intronic rs4970977 CTSK AR NM_000396 exon7 c.10008+274T>A Uncertain 1_150779755_C->T 1 150779755 150779755 C T snp 4707.77 1/1 99 174 0 174 1.0 intronic rs6587522 CTSK AR NM_000396 exon7 c.10008+473C>T 0.982428 1 0.9960 1 0.54 T 0.000 P -1.081 T Uncertain 1_150789961_A->T 1 150789961 150789961 A T snp 227.77 0/1 99 16 7 9 0.56 intronic rs3894771 ARNT AU NM_001668 exon7 c.5413+52A>T 0.513978 0.505 0.530399 0.5154 0.5668 Uncertain 1_150790290_A->- 1 150790290 150790290 A - indel 46.73 0/1 84 23 15 8 0.35 intronic ARNT AU NM_001668 exon8 c.5899-105delA Uncertain 1_150799112_A->C 1 150799112 150799112 A C snp 238.77 0/1 99 19 7 12 0.63 intronic rs3768017 ARNT AU NM_001668 exon10 c.14597+19A>C 0.0780751 0.1726 0.067909 0.0958 0.2155 Uncertain 1_150801466_T->C 1 150801466 150801466 T C snp 681.77 0/1 99 61 34 27 0.44 intronic rs3738483 ARNT AU NM_001668 exon11 c.17072-102T>C 0.815895 0.8204 Uncertain 1_150938616_G->A 1 150938616 150938616 G A snp 2489.77 1/1 99 92 0 92 1.0 UTR3 rs267739 CERS2 AU 0.979233 1 0.979702 0.9940 1 Uncertain 1_150944169_G->C 1 150944169 150944169 G C snp 56.74 1/1 6 2 0 2 1.0 intronic rs11579289 CERS2 AU NM_181746 exon10 c.2984+2562G>C 0.0992412 0.1607 Uncertain 1_150944541_A->G 1 150944541 150944541 A G snp 139.03 1/1 12 4 0 4 1.0 intronic rs267737 CERS2 AU NM_181746 exon11 c.8471-2553A>G 1 1 Uncertain 1_150956947_C->T 1 150956947 150956947 C T snp 604.77 0/1 99 36 13 23 0.64 intronic rs2305815 ANXA9 AU NM_003568 exon6 c.1289+77C>T 0.0786741 0.1617 Uncertain 1_150958977_T->C 1 150958977 150958977 T C snp 976.77 0/1 99 85 44 41 0.48 intronic rs2305814 ANXA9 AU NM_003568 exon8 c.3310+86T>C 0.550919 0.5883 Uncertain 1_150960350_A->C 1 150960350 150960350 A C snp 549.77 0/1 99 53 28 25 0.47 exonic rs7532008 ANXA9 AU synonymous SNV NM_003568 exon10 c.A615C p.A205A 0.491813 0.5813 0.353145 0.3926 0.5756 Uncertain 1_150960928_G->A 1 150960928 150960928 G A snp 93.28 1/1 9 3 0 3 1.0 intronic rs12033744 ANXA9 AU NM_003568 exon12 c.5236+111G>A 0.177316 0.2669 Uncertain 1_150969992_T->C 1 150969992 150969992 T C snp 4197.77 1/1 99 145 0 145 1.0 intronic rs2925740 FAM63A AU NM_001163258 exon2 c.337-107T>C 0.890375 1 0.9408 1 0.0 P -1.016 T Uncertain 1_150970577_G->T 1 150970577 150970577 G T snp 1046.77 1/1 75 39 0 39 1.0 exonic rs2925741 FAM63A AU nonsynonymous SNV NM_001040217 exon8 c.C728A p.T243K 0.943291 1 0.942411 0.9830 1 1 T 0.0 P -1.008 T 0.0 T 0.001 T Pathogenic 1_150970811_G->C 1 150970811 150970811 G C snp 646.77 0/1 99 38 15 23 0.61 intronic rs74602660 FAM63A AU NM_001163258 exon3 c.987+62G>C 0.153554 0.1587 Uncertain 1_150970836_T->A 1 150970836 150970836 T A snp 103.77 0/1 99 18 12 6 0.33 intronic rs1673160 FAM63A AU NM_001163258 exon3 c.987+87T>A 0.376198 0.4236 Uncertain 1_150972538_G->A 1 150972538 150972538 G A snp 551.77 1/1 42 19 0 19 1.0 intronic rs708909 FAM63A AU NM_001163258 exon5 c.2678+98G>A 0.956669 1 Uncertain 1_150973514_G->A 1 150973514 150973514 G A snp 296.77 0/1 99 14 5 9 0.64 intronic rs771203 FAM63A AU NM_001163258 exon7 c.3963-211G>A 0.676717 0.8413 Uncertain 1_150974162_G->A 1 150974162 150974162 G A snp 707.77 0/1 99 63 32 31 0.49 intronic rs771204 FAM63A AU NM_001163258 exon8 c.4438-38G>A 0.822484 0.8413 0.818161 0.8361 0.8011 Uncertain 1_150975108_T->C 1 150975108 150975108 T C snp 942.77 0/1 99 89 52 37 0.42 exonic rs771205 FAM63A AU nonsynonymous SNV NM_001163258 exon3 c.A130G p.K44E 0.758986 0.8492 0.802014 0.9048 0.8052 1 T 0.0 P -1.020 T Pathogenic 1_150981237_G->A 1 150981237 150981237 G A snp 1580.77 0/1 99 134 66 68 0.51 intronic rs2305812 PRUNE AU NM_001303242 exon1 c.39+90G>A 0.076877 0.1498 Uncertain 1_150990825_A->G 1 150990825 150990825 A G snp 481.77 1/1 36 14 0 14 1.0 intronic rs3738480 PRUNE AU NM_001303242 exon3 c.9834-117A>G 0.778954 0.88 0.730555 0.7637 0.8892 Uncertain 1_150991221_A->G 1 150991221 150991221 A G snp 2541.77 1/1 99 80 0 80 1.0 intronic rs11204758 PRUNE AU NM_001303242 exon3 c.10037+76A>G 0.196885 0.4048 Uncertain 1_150991285_A->G 1 150991285 150991285 A G snp 630.03 1/1 12 21 1 20 0.95 intronic rs6664220 PRUNE AU NM_001303242 exon3 c.10037+140A>G 0.842452 0.88 Uncertain 1_150999737_A->G 1 150999737 150999737 A G snp 1650.77 1/1 99 61 0 61 1.0 exonic rs11204762 PRUNE AU synonymous SNV NM_001303243 exon4 c.A105G p.K35K 0.275759 0.4613 0.236737 0.2530 0.5021 Uncertain 1_150999863_A->G 1 150999863 150999863 A G snp 512.77 0/1 99 49 26 23 0.47 intronic rs55717234 PRUNE AU NM_001303229 exon5 c.1787+60A>G 0.48103 0.2629 Uncertain 1_151001583_G->A 1 151001583 151001583 G A snp 455.77 1/1 36 14 0 14 1.0 intronic rs6691701 PRUNE AU NM_001303229 exon6 c.3404+163G>A 0.650359 0.8671 Uncertain 1_151006537_G->A 1 151006537 151006537 G A snp 2178.77 0/1 99 181 83 98 0.54 exonic rs3738477 PRUNE AU nonsynonymous SNV NM_001303243 exon6 c.G586A p.G196S 0.0816693 0.3383 0.001768 0.0366 0.3658 0.000 P -1.089 T 0.952 T 0.449 D Pathogenic 1_151006539_C->A 1 151006539 151006539 C A snp 4713.77 1/1 99 180 0 180 1.0 exonic rs3738476 PRUNE AU synonymous SNV NM_001303243 exon6 c.C588A p.G196G 0.509385 0.5952 0.854529 0.8457 0.8703 Uncertain 1_151019180_A->G 1 151019180 151019180 A G snp 2096.77 1/1 99 71 0 71 1.0 UTR3 rs6587553 BNIPL AU 0.811502 0.9077 0.777872 0.8130 0.9244 Uncertain 1_151022998_C->T 1 151022998 151022998 C T snp 819.77 0/1 99 100 59 41 0.41 UTR3 C1orf56 AU Uncertain 1_151026815_C->T 1 151026815 151026815 C T snp 5639.77 1/1 99 210 0 210 1.0 intronic rs2902810 CDC42SE1 AU NM_001038707 exon2 c.75+18C>T 0.801917 0.9058 0.765800 0.8061 0.9222 Uncertain 1_151028234_G->T 1 151028234 151028234 G T snp 4332.77 1/1 99 163 0 163 1.0 UTR5 rs11204767 CDC42SE1 AU 1 1 1 1 Uncertain 1_151039609_A->G 1 151039609 151039609 A G snp 551.77 1/1 42 17 0 17 1.0 intronic rs3738481 MLLT11 AU 0.846845 0.9048 Uncertain 1_151070253_A->- 1 151070253 151070253 A - indel 688.73 1/1 89 30 0 30 1.0 intronic rs35034487 GABPB2 AU NM_144618 exon5 c.9662-74delA 0.599042 0.5446 Uncertain 1_151104950_G->A 1 151104950 151104950 G A snp 3390.77 1/1 99 124 0 124 1.0 UTR3 rs10788800 SEMA6C AU 0.622005 0.877 0.633506 0.7163 0.8868 0.07 T 0.002 P -0.960 T Uncertain 1_151105824_C->G 1 151105824 151105824 C G snp 1069.77 1/1 78 38 0 38 1.0 exonic rs4971006 SEMA6C AU synonymous SNV NM_001178062 exon19 c.G1905C p.P635P 0.758187 0.9028 0.734307 0.8219 0.9228 Uncertain 1_151106518_A->G 1 151106518 151106518 A G snp 767.77 0/1 99 67 34 33 0.49 exonic rs587655411 SEMA6C AU synonymous SNV NM_001178062 exon18 c.T1653C p.P551P 0.000199681 0.001 Uncertain 1_151108028_T->C 1 151108028 151108028 T C snp 1074.77 0/1 99 89 50 39 0.44 intronic rs117575586 SEMA6C AU NM_030913 exon6 c.3107-38T>C 0.0167732 0.0833 0.000077 0.0093 0.1220 Uncertain 1_151108137_T->G 1 151108137 151108137 T G snp 7860.77 1/1 99 249 1 248 1.0 exonic rs4971007 SEMA6C AU nonsynonymous SNV NM_001178062 exon13 c.A1243C p.T415P 0.823482 0.9048 0.798862 0.8189 0.9196 0.36 T 0.010 P -0.967 T 0.0 T 0.0 T Pathogenic 1_151109641_G->A 1 151109641 151109641 G A snp 56.74 1/1 6 2 0 2 1.0 intronic rs4971008 SEMA6C AU NM_030913 exon9 c.4591+91G>A 0.757188 0.8978 Uncertain 1_151114882_-->T 1 151114882 151114882 - T indel 3223.52 1/1 99 77 0 77 1.0 intronic rs11464219 SEMA6C AU NM_030913 exon17 c.10020-97insT 0.771166 0.8631 Uncertain 1_151115186_C->T 1 151115186 151115186 C T snp 262.8 1/1 21 8 0 8 1.0 intronic rs12569193 SEMA6C AU NM_030913 exon17 c.10192+35C>T 0.610024 0.8333 Uncertain 1_151144057_C->T 1 151144057 151144057 C T snp 1859.77 0/1 99 143 67 76 0.53 intronic rs28730723 TMOD4 AU NM_013353 exon4 c.1460+41C>T 0.109625 0.1081 0.126865 0.1507 0.0890 Uncertain 1_151146186_C->G 1 151146186 151146186 C G snp 1793.77 1/1 99 61 0 61 1.0 intronic rs7552226 TMOD4 AU NM_013353 exon7 c.3535+95C>G 0.92472 0.9286 Uncertain 1_151146276_T->C 1 151146276 151146276 T C snp 301.78 1/1 24 8 0 8 1.0 intronic rs7521416 TMOD4 AU NM_013353 exon7 c.3535+185T>C 0.923722 0.9276 Uncertain 1_151149601_A->G 1 151149601 151149601 A G snp 229.84 1/1 18 8 0 8 1.0 intronic rs6656261 VPS72 AU NM_001271087 exon1 c.421+61A>G 0.977436 1 Uncertain 1_151171811_C->G 1 151171811 151171811 C G snp 68.28 1/1 9 3 0 3 1.0 intronic rs6683396 PIP5K1A AU NM_001135637 exon1 c.85+254C>G 0.640176 0.6111 Uncertain 1_151205303_A->G 1 151205303 151205303 A G snp 1098.77 1/1 81 30 0 30 1.0 intronic rs7544947 PIP5K1A AU NM_001135637 exon6 c.33707+124A>G 0.641374 0.6121 Uncertain 1_151205349_A->G 1 151205349 151205349 A G snp 133.03 1/1 12 4 0 4 1.0 intronic rs7545024 PIP5K1A AU NM_001135637 exon6 c.33707+170A>G 0.776957 0.6736 Uncertain 1_151209063_C->T 1 151209063 151209063 C T snp 5577.77 1/1 99 216 0 216 1.0 exonic rs12407426 PIP5K1A AU synonymous SNV NM_001135636 exon8 c.C933T p.Y311Y 0.641374 0.6121 0.686760 0.6618 0.6259 Uncertain 1_151210789_C->T 1 151210789 151210789 C T snp 7129.77 1/1 99 250 1 249 1.0 intronic rs7532935 PIP5K1A AU NM_001135637 exon9 c.39269+48C>T 0.594649 0.6121 0.640166 0.6444 0.6266 Uncertain 1_151212399_-->CTT 1 151212399 151212399 - CTT indel 2842.73 1/1 99 48 0 48 1.0 intronic rs141190258 PIP5K1A AU NM_001135637 exon11 c.40958-31insCTT 0.779752 0.6736 0.8221 0.6817 Uncertain 1_151227371_A->G 1 151227371 151227371 A G snp 630.77 1/1 48 16 0 16 1.0 intronic rs3811405 PSMD4 AU NM_002810 exon1 c.26+87A>G 0.761182 0.6766 Uncertain 1_151237590_C->- 1 151237590 151237590 C - indel 2002.73 1/1 99 61 0 61 1.0 intronic rs3216063 PSMD4 AU NM_002810 exon5 c.10383-51delC 0.642772 0.6121 0.689757 Uncertain 1_151238222_G->A 1 151238222 151238222 G A snp 681.77 1/1 51 21 0 21 1.0 intronic rs2275900 PSMD4 AU NM_002810 exon6 c.10827+137G>A 0.609225 0.6121 Uncertain 1_151239051_T->C 1 151239051 151239051 T C snp 2802.77 1/1 99 100 0 100 1.0 exonic rs7489 PSMD4 AU synonymous SNV NM_002810 exon9 c.T951C p.S317S 0.635383 0.6121 0.681301 0.6640 0.6288 1.000 P -1.079 T Likely benign 1_151239570_C->T 1 151239570 151239570 C T snp 2420.77 1/1 99 81 0 81 1.0 intronic rs10888408 PSMD4 AU NM_002810 exon10 c.12390-78C>T 0.617212 0.6121 Uncertain 1_151254041_T->C 1 151254041 151254041 T C snp 2420.77 1/1 99 86 0 86 1.0 UTR5 rs3811406 ZNF687 AD 0.745208 0.6796 0.7411 0.6929 0 D -1.026 T Uncertain 1_151260736_C->T 1 151260736 151260736 C T snp 1536.77 0/1 99 97 39 58 0.6 exonic rs587707391 ZNF687 AD nonsynonymous SNV NM_001304764 exon2 c.C1969T p.L657F 0.000399361 0.002 0.0002 0.0030 0.02 T 1.000 N -0.920 T 0.996 D 0.851 D ID=COSM1185592;OCCURENCE=1(lung) Pathogenic 1_151263782_A->G 1 151263782 151263782 A G snp 349.78 1/1 27 10 0 10 1.0 UTR3 rs10788803 ZNF687 AD 0.570487 0.62 Uncertain 1_151278505_A->G 1 151278505 151278505 A G snp 141.03 1/1 12 4 0 4 1.0 intronic rs2031797 PI4KB AU NM_002651 exon8 c.13284-106A>G 0.741414 0.6815 Uncertain 1_151280400_C->G 1 151280400 151280400 C G snp 679.77 1/1 51 20 0 20 1.0 intronic rs1536617 PI4KB AU NM_002651 exon9 c.14950+123C>G 0.752796 0.6815 Uncertain 1_151282698_A->G 1 151282698 151282698 A G snp 349.77 0/1 99 21 8 13 0.62 exonic PI4KB AU nonsynonymous SNV NM_002651 exon4 c.T979C p.S327P 0.27 T 1.000 D -1.073 T 0.001 T 0.001 T Pathogenic 1_151288172_G->A 1 151288172 151288172 G A snp 2916.77 1/1 99 104 0 104 1.0 exonic rs1056847 PI4KB AU synonymous SNV NM_001198774 exon2 c.C786T p.D262D 0.509585 0.5764 0.545364 0.5932 0.5756 Uncertain 1_151288391_A->G 1 151288391 151288391 A G snp 3532.77 1/1 99 126 1 125 0.99 exonic rs1752379 PI4KB AU synonymous SNV NM_001198774 exon2 c.T567C p.D189D 0.978235 1 0.975473 0.9934 1 Uncertain 1_151314379_T->C 1 151314379 151314379 T C snp 301.78 1/1 24 8 0 8 1.0 UTR3 rs1752387 RFX5 AR 0.764377 0.7014 Uncertain 1_151316161_G->A 1 151316161 151316161 G A snp 2250.77 1/1 99 83 1 82 0.99 exonic rs1752386 RFX5 AR synonymous SNV NM_000449 exon9 c.C753T p.L251L 0.978035 1 0.975242 0.9934 1 Uncertain 1_151337788_A->G 1 151337788 151337788 A G snp 2022.77 1/1 99 70 0 70 1.0 intronic rs10788804 SELENBP1 AU NM_001258288 exon3 c.739+31A>G 0.508387 0.5863 0.526069 0.5995 0.6011 Uncertain 1_151341417_G->A 1 151341417 151341417 G A snp 563.77 0/1 99 75 49 26 0.35 intronic rs744459 SELENBP1 AU NM_003944 exon9 c.4461-62G>A 0.127596 0.2431 Uncertain 1_151341728_-->C 1 151341728 151341728 - C indel 314.73 0/1 99 15 4 11 0.73 intronic rs35093538 SELENBP1 AU NM_003944 exon9 c.4647+63insC 0.494409 0.2956 Uncertain 1_151341848_G->- 1 151341848 151341848 G - indel 193.73 0/1 99 17 9 8 0.47 intronic rs537023335 SELENBP1 AU NM_001258288 exon9 c.4899-69delG 0.000599042 0.003 Uncertain 1_151372138_G->A 1 151372138 151372138 G A snp 1199.77 0/1 99 108 52 56 0.52 exonic rs7172 PSMB4 AU synonymous SNV NM_002796 exon1 c.G75A p.P25P 0.493011 0.2123 0.674074 0.6746 0.2253 Uncertain 1_151372770_A->G 1 151372770 151372770 A G snp 548.77 1/1 42 14 0 14 1.0 intronic rs2495390 PSMB4 AU NM_002796 exon2 c.600+107A>G 0.978035 1 Uncertain 1_151373200_T->C 1 151373200 151373200 T C snp 2531.77 1/1 99 95 0 95 1.0 intronic rs2495391 PSMB4 AU NM_002796 exon4 c.1176-39T>C 0.975839 1 0.970321 0.9923 1 Uncertain 1_151374025_T->C 1 151374025 151374025 T C snp 3135.77 0/1 99 239 112 127 0.53 exonic rs4603 PSMB4 AU nonsynonymous SNV NM_002796 exon6 c.T701C p.I234T 0.192093 0.3165 0.146163 0.1937 0.3645 0 D 1.000 P -0.840 T 0.836 T 0.776 P Pathogenic 1_151377248_T->C 1 151377248 151377248 T C snp 994.77 1/1 75 29 0 29 1.0 UTR3 rs6667714 POGZ AD 0.975839 1 0.970385 0.9921 1 Uncertain 1_151379250_G->A 1 151379250 151379250 G A snp 566.77 0/1 99 33 13 20 0.61 intronic rs2274535 POGZ AD NM_001194938 exon3 c.2109-136G>A 0.492013 0.2093 Uncertain 1_151381321_A->- 1 151381321 151381321 A - indel 1180.73 0/1 99 101 51 50 0.5 intronic rs3831142 POGZ AD NM_001194938 exon7 c.4027+17delA 0.492013 0.2113 0.672923 0.6753 0.2246 Uncertain 1_151384711_A->G 1 151384711 151384711 A G snp 842.77 0/1 99 67 29 38 0.57 intronic rs1887545 POGZ AD NM_001194938 exon9 c.7494-60A>G 0.784145 0.6825 Uncertain 1_151384733_G->A 1 151384733 151384733 G A snp 1001.77 0/1 99 81 36 45 0.56 intronic rs3748550 POGZ AD NM_001194938 exon9 c.7494-38G>A 0.784145 0.6825 0.825235 0.8001 0.6395 Uncertain 1_151395782_T->C 1 151395782 151395782 T C snp 883.77 0/1 99 39 12 27 0.69 intronic rs2274533 POGZ AD NM_001194938 exon10 c.18595-90T>C 0.552516 0.2113 Uncertain 1_151396037_A->C 1 151396037 151396037 A C snp 1169.77 0/1 99 115 64 51 0.44 intronic rs2274534 POGZ AD NM_001194938 exon10 c.18750+10A>C 0.490815 0.2113 0.673151 0.6746 0.2261 Uncertain 1_151400942_A->C 1 151400942 151400942 A C snp 791.77 0/1 99 54 23 31 0.57 intronic rs11204811 POGZ AD NM_001194938 exon14 c.23612+53A>C 0.503195 0.2113 Uncertain 1_151402045_A->G 1 151402045 151402045 A G snp 1524.77 0/1 99 139 72 67 0.48 intronic rs6587577 POGZ AD NM_001194938 exon15 c.24801-33A>G 0.758986 0.6825 0.801861 0.7931 0.6361 Uncertain 1_151495796_T->C 1 151495796 151495796 T C snp 699.77 0/1 99 61 33 28 0.46 intronic rs2337359 CGN AU NM_020770 exon6 c.4914-113T>C 0.465056 0.8115 Uncertain 1_151497140_T->C 1 151497140 151497140 T C snp 108.77 0/1 99 20 13 7 0.35 intronic rs1573130 CGN AU NM_020770 exon8 c.6154-9T>C 0.465256 0.8115 0.257664 0.3502 0.8114 Uncertain 1_151497202_G->A 1 151497202 151497202 G A snp 172.77 0/1 99 27 18 9 0.33 exonic rs12038198 CGN AU nonsynonymous SNV NM_020770 exon8 c.G1454A p.R485Q 0.0992412 0.2292 0.023604 0.0767 0.2307 0.05 T 0.120 P -1.037 T 0.041 T 0.003 T Pathogenic 1_151499635_C->T 1 151499635 151499635 C T snp 298.77 0/1 99 24 13 11 0.46 intronic rs2298168 CGN AU NM_020770 exon10 c.8588+52C>T 0.500599 0.1885 0.689356 0.6858 0.1951 Uncertain 1_151501698_A->G 1 151501698 151501698 A G snp 337.78 1/1 27 11 0 11 1.0 intronic rs2096232 CGN AU NM_020770 exon11 c.10830-127A>G 0.932708 1 Uncertain 1_151501737_T->C 1 151501737 151501737 T C snp 882.77 1/1 66 27 0 27 1.0 intronic rs6678068 CGN AU NM_020770 exon11 c.10830-88T>C 0.936302 1 Uncertain 1_151501841_C->G 1 151501841 151501841 C G snp 871.77 0/1 99 97 55 42 0.43 exonic rs12044926 CGN AU nonsynonymous SNV NM_020770 exon11 c.C1912G p.Q638E 0.100639 0.2063 0.034676 0.0772 0.2349 0.14 T 0.229 P -0.885 T 0.817 T 0.366 P Pathogenic 1_151508061_A->C 1 151508061 151508061 A C snp 172.77 0/1 99 17 11 6 0.35 intronic rs11204842 CGN AU NM_020770 exon17 c.17080-14A>C 0.263578 0.0952 0.368907 0.3424 0.0841 Uncertain 1_151518484_-->TC 1 151518484 151518484 - TC indel 515.73 0/1 99 26 9 17 0.65 intronic rs35467387 TUFT1 AU NM_020127 exon1 c.60+5582insTC 0.254193 0.0952 Uncertain 1_151534321_G->A 1 151534321 151534321 G A snp 861.77 0/1 99 56 26 30 0.54 exonic rs78802584 TUFT1 AU nonsynonymous SNV NM_001301317 exon2 c.G106A p.A36T 0.0201677 0.0506 0.0037 0.0543 0.43 T 1 N -0.923 T 0.093 T 0.039 T Pathogenic 1_151538784_-->TC 1 151538784 151538784 - TC indel 581.73 0/1 99 53 29 24 0.45 intronic rs140188723 TUFT1 AU NM_020127 exon6 c.25862+80insTC 0.202276 0.369 Uncertain 1_151546931_A->G 1 151546931 151546931 A G snp 1428.77 1/1 99 41 0 41 1.0 intronic rs6660238 TUFT1 AU NM_020127 exon8 c.34032+57A>G 0.900559 0.9296 Uncertain 1_151551078_A->G 1 151551078 151551078 A G snp 96.28 1/1 9 3 0 3 1.0 intronic rs1544218 TUFT1 AU NM_020127 exon10 c.38354-118A>G 0.777955 0.875 Uncertain 1_151554471_CCTC->- 1 151554471 151554474 CCTC - indel 2240.73 1/1 99 33 0 33 1.0 UTR3 rs143483175 TUFT1 AU 0.135583 0.3135 Uncertain 1_151665077_G->A 1 151665077 151665077 G A snp 256.77 0/1 99 24 13 11 0.46 intronic rs185748265 SNX27 AU NM_030918 exon9 c.80383+17G>A 0.000199681 0.001 0.0006 0.0088 Uncertain 1_151665562_-->T 1 151665562 151665562 - T indel 1283.73 1/1 74 76 3 73 0.96 intronic rs35971824 SNX27 AU NM_030918 exon10 c.80838+47insT 0.190495 0.3204 0.1132 0.3484 Uncertain 1_151665858_T->- 1 151665858 151665858 T - indel 3898.73 1/1 99 87 0 87 1.0 intronic rs3215299 SNX27 AU NM_030918 exon11 c.81222-41delT 0.199681 0.3165 0.067881 0.0954 0.3599 Uncertain 1_151675618_T->C 1 151675618 151675618 T C snp 3026.77 1/1 99 112 0 112 1.0 UTR3 rs1308150 CELF3 AU 0.971645 1 0.974561 0.9942 1 Uncertain 1_151679441_T->C 1 151679441 151679441 T C snp 143.03 1/1 12 5 0 5 1.0 intronic rs1308152 CELF3 AU NM_001172648 exon6 c.2104-179T>C 0.519369 0.6359 Uncertain 1_151679596_G->A 1 151679596 151679596 G A snp 1518.77 1/1 99 60 0 60 1.0 intronic rs1308153 CELF3 AU NM_001172648 exon6 c.2104-24G>A 0.19369 0.3462 0.058564 0.1604 0.4403 Uncertain 1_151679900_C->T 1 151679900 151679900 C T snp 3000.77 1/1 99 102 0 102 1.0 intronic rs10888428 CELF3 AU NM_001172648 exon7 c.2466-82C>T 0.511781 0.6359 Uncertain 1_151686983_T->A 1 151686983 151686983 T A snp 2156.77 1/1 99 74 0 74 1.0 intronic rs939592 CELF3 AU NM_001172648 exon12 c.9553-86T>A 0.708666 0.8224 0.6079 0.8333 Uncertain 1_151700189_-->CTG 1 151700189 151700189 - CTG indel 3692.73 1/1 99 62 0 62 1.0 intronic rs3216068 RIIAD1 AU NM_001144956 exon3 c.6085+92insCTG 0.876597 0.8601 Uncertain 1_151734136_G->A 1 151734136 151734136 G A snp 1373.77 1/1 99 51 0 51 1.0 intronic rs1196454 MRPL9 AU NM_031420 exon3 c.1503+108G>A 0.169129 0.3353 Uncertain 1_151735545_A->G 1 151735545 151735545 A G snp 5231.77 1/1 99 188 1 187 0.99 exonic rs1196455 MRPL9 AU synonymous SNV NM_001300733 exon2 c.T231C p.H77H 0.174321 0.3611 0.045517 0.0856 0.3962 Uncertain 1_151740479_C->A 1 151740479 151740479 C A snp 370.77 1/1 30 10 0 10 1.0 intronic rs1196457 OAZ3 AU NM_001134939 exon3 c.4922-54C>A 0.9998 1 Uncertain 1_151740666_T->C 1 151740666 151740666 T C snp 3097.77 1/1 99 114 0 114 1.0 exonic rs2495397 OAZ3 AU unknown 0.999601 1 0.999424 0.9998 1 1.000 P -0.962 T Uncertain 1_151747799_G->A 1 151747799 151747799 G A snp 1053.77 1/1 78 33 0 33 1.0 intronic rs1781419 TDRKH AU NM_006862 exon5 c.940-68G>A 0.707268 0.6954 Uncertain 1_151748829_G->A 1 151748829 151748829 G A snp 3668.77 1/1 99 120 0 120 1.0 intronic rs3811413 TDRKH AU NM_006862 exon8 c.1987-85G>A 0.161342 0.376 Uncertain 1_151773387_G->A 1 151773387 151773387 G A snp 4115.77 1/1 99 161 0 161 1.0 UTR3 rs1521179 LINGO4 AU 0.180112 0.3462 0.029462 0.0975 0.3894 Uncertain 1_151773851_T->A 1 151773851 151773851 T A snp 4798.77 1/1 99 168 1 167 0.99 exonic rs61746299 LINGO4 AU nonsynonymous SNV NM_001004432 exon2 c.A1330T p.T444S 0.180112 0.3462 0.030447 0.0947 0.3873 0.76 T 0.146 P -1.077 T 0.083 T 0.086 T Pathogenic 1_151783688_A->C 1 151783688 151783688 A C snp 286.77 0/1 99 14 5 9 0.64 intronic rs939595 RORC AR NM_001001523 exon2 c.3853-112A>C 0.697085 0.7063 Uncertain 1_151783736_G->A 1 151783736 151783736 G A snp 792.77 0/1 99 46 14 32 0.7 intronic rs2280471 RORC AR NM_001001523 exon2 c.3853-64G>A 0.0988419 0.1478 Uncertain 1_151787219_G->A 1 151787219 151787219 G A snp 198.77 0/1 99 27 18 9 0.33 intronic rs118043804 RORC AR NM_001001523 exon6 c.7224+48G>A 0.00978435 0.0476 0.000154 0.0044 0.0535 Uncertain 1_151789588_-->TGTGTGTG 1 151789588 151789588 - TGTGTGTG indel 1271.73 1/1 39 17 2 15 0.88 intronic rs151171878 RORC AR NM_001001523 exon9 c.9723-82insTGTGTGTG 0.390375 0.4504 Uncertain 1_151789647_T->G 1 151789647 151789647 T G snp 1104.77 0/1 99 103 53 50 0.49 intronic rs12144914 RORC AR NM_001001523 exon9 c.9723-23T>G 0.398163 0.4702 0.443949 0.4530 0.4591 Uncertain 1_151801951_G->A 1 151801951 151801951 G A snp 821.77 0/1 99 100 63 37 0.37 intronic rs4845606 RORC AR NM_005060 exon10 c.21987+17G>A 0.147963 0.1488 0.122636 0.1443 0.1308 Uncertain 1_151803664_C->T 1 151803664 151803664 C T snp 1008.77 0/1 99 55 20 35 0.64 intronic rs72692783 RORC AR NM_005060 exon11 c.24253-536C>T 0.115615 0.1627 Uncertain 1_151810304_G->C 1 151810304 151810304 G C snp 123.78 0/1 25 5 1 4 0.8 upstream;downstream rs12122596 LOC100132111;C2CD4D UN 0.512181 0.375 Uncertain 1_151811226_G->A 1 151811226 151811226 G A snp 979.77 1/1 72 34 0 34 1.0 exonic rs6673556 C2CD4D AU synonymous SNV NM_001136003 exon2 c.C240T p.C80C 0.931709 1 0.9853 1 Uncertain 1_151820298_G->C 1 151820298 151820298 G C snp 2696.77 1/1 99 111 1 110 0.99 exonic rs6587624 THEM5 AU nonsynonymous SNV NM_182578 exon5 c.C616G p.L206V 0.996605 1 0.995310 0.9988 1 1 T 0.0 P -0.957 T 0.0 T 0.001 T Pathogenic 1_151820324_T->C 1 151820324 151820324 T C snp 1135.77 0/1 99 103 49 54 0.52 exonic rs6587625 THEM5 AU nonsynonymous SNV NM_182578 exon5 c.A590G p.D197G 0.777955 0.6815 0.825465 0.7861 0.6513 1 T 0.000 P -0.965 T 0.0 T 0.0 T Pathogenic 1_151820845_C->T 1 151820845 151820845 C T snp 132.77 0/1 99 17 12 5 0.29 intronic rs60166269 THEM5 AU NM_182578 exon3 c.922+77C>T 0.192093 0.3185 Uncertain 1_151825991_G->T 1 151825991 151825991 G T snp 335.77 0/1 99 39 23 16 0.41 exonic rs7556386 THEM5 AU synonymous SNV NM_182578 exon1 c.C51A p.G17G 0.626597 0.6567 0.691988 0.6443 0.6253 Uncertain 1_151867560_G->A 1 151867560 151867560 G A snp 2510.77 1/1 99 84 0 84 1.0 exonic rs3762427 THEM4 AU synonymous SNV NM_053055 exon2 c.C210T p.D70D 0.923123 0.9504 0.911475 0.9148 0.9453 Uncertain 1_151881885_A->C 1 151881885 151881885 A C snp 1379.77 1/1 99 50 0 50 1.0 exonic rs3748805 THEM4 AU nonsynonymous SNV NM_053055 exon1 c.T50G p.L17R 0.922923 0.9494 0.9136 0.9660 0.7 T 0.0 P -1.025 T 0.0 T 0.0 T Pathogenic 1_151958735_A->G 1 151958735 151958735 A G snp 2995.77 0/1 99 232 115 117 0.5 intronic rs190916122 S100A10 AU NM_002966 exon2 c.3089+8A>G 0.000998403 0.005 0.0005 0.0069 Uncertain 1_152009530_T->C 1 152009530 152009530 T C snp 302.78 1/1 24 8 0 8 1.0 upstream rs3811422 S100A11 AU 0.875799 0.8938 Uncertain 1_152056600_T->C 1 152056600 152056600 T C snp 269.77 0/1 99 41 30 11 0.27 downstream rs4147208 TCHHL1 AU 0.0071885 0.0337 Uncertain 1_152079823_C->G 1 152079823 152079823 C G snp 2437.77 0/1 99 201 93 108 0.54 UTR3 rs1131473 TCHH AU 0.470248 0.496 0.357838 0.4365 0.5121 Uncertain 1_152079989_T->G 1 152079989 152079989 T G snp 3955.77 0/1 99 250 110 140 0.56 exonic rs1131471 TCHH AU nonsynonymous SNV NM_007113 exon3 c.A5704C p.K1902Q 0.578075 0.5992 0.447429 0.5093 0.5791 0.44 T 0.0 P -0.899 T 0.0 T 0.0 T Pathogenic 1_152081921_G->C 1 152081921 152081921 G C snp 2748.77 0/1 99 250 142 108 0.43 exonic rs2496253 TCHH AU nonsynonymous SNV NM_007113 exon3 c.C3772G p.L1258V 0.56849 0.5992 0.439958 0.5071 0.5797 0.3 T 0.0 P -0.896 T 0.0 T 0.0 T Pathogenic 1_152085505_A->C 1 152085505 152085505 A C snp 2990.77 1/1 99 104 0 104 1.0 exonic rs2515663 TCHH AU nonsynonymous SNV NM_007113 exon3 c.T188G p.L63R 0.989217 1 0.990155 0.9970 1 1 T 0.052 P -0.948 T 0.197 T 0.003 T Pathogenic 1_152185500_C->G 1 152185500 152185500 C G snp 2312.77 1/1 99 65 0 65 1.0 UTR3 rs12726613 HRNR AU 0.377396 0.619 0.192455 Uncertain 1_152185750_G->A 1 152185750 152185750 G A snp 7516.77 1/1 99 250 0 250 1.0 exonic rs12729662 HRNR AU synonymous SNV NM_001009931 exon3 c.C8355T p.Y2785Y 0.342652 0.6181 0.2651 0.6051 Uncertain 1_152192555_T->C 1 152192555 152192555 T C snp 6998.77 1/1 99 250 0 250 1.0 exonic rs41266134 HRNR AU nonsynonymous SNV NM_001009931 exon3 c.A1550G p.Y517C 0.292332 0.5962 0.111256 0.2286 0.5706 0.18 T 0.0 P -0.915 T 0.003 T 0.001 T Pathogenic 1_152192687_T->C 1 152192687 152192687 T C snp 7275.77 1/1 99 246 0 246 1.0 exonic rs6587648 HRNR AU nonsynonymous SNV NM_001009931 exon3 c.A1418G p.E473G 0.942492 1 0.950331 0.9857 0.9997 0.98 T 0.0 P -0.989 T 0.0 T 0.0 T Pathogenic 1_152192978_T->C 1 152192978 152192978 T C snp 6980.77 1/1 99 248 1 247 1.0 exonic rs6587649 HRNR AU nonsynonymous SNV NM_001009931 exon3 c.A1127G p.Q376R 0.942292 0.999 0.950331 0.9858 1 0.58 T 0.0 P -0.909 T 0.0 T 0.0 T Pathogenic 1_152193052_A->G 1 152193052 152193052 A G snp 7123.77 1/1 99 242 0 242 1.0 exonic rs6587650 HRNR AU synonymous SNV NM_001009931 exon3 c.T1053C p.H351H 0.914736 1 0.917038 0.9765 0.9986 Uncertain 1_152193547_G->A 1 152193547 152193547 G A snp 7576.77 1/1 99 250 0 250 1.0 exonic rs6587653 HRNR AU synonymous SNV NM_001009931 exon3 c.C558T p.S186S 0.942292 1 0.950331 0.9858 1 Uncertain 1_152195579_G->A 1 152195579 152195579 G A snp 4957.77 1/1 99 189 0 189 1.0 intronic rs74127901 HRNR AU NM_001009931 exon2 c.10040-12G>A 0.330671 0.6091 0.143165 0.2552 0.5811 Uncertain 1_152195729_T->- 1 152195729 152195729 T - indel 1620.73 1/1 99 76 0 76 1.0 exonic rs34061715 HRNR AU frameshift deletion NM_001009931 exon2 c.1delA p.M1fs 0.874002 0.9544 0.7530 0.7208 ID=COSM111478;OCCURENCE=2(ovary),3(large_intestine) Pathogenic 1_152276149_C->T 1 152276149 152276149 C T snp 5715.77 1/1 99 205 3 202 0.99 exonic rs77422831 FLG AU,AD nonsynonymous SNV NM_002016 exon3 c.G11213A p.R3738H 0.286941 0.5804 0.107873 0.2288 0.5597 0.27 T 0.0 P -0.947 T 0.751 T 0.065 P Pathogenic 1_152276659_T->C 1 152276659 152276659 T C snp 963.9 0/1 15 41 8 33 0.8 exonic rs7532285 FLG AU,AD nonsynonymous SNV NM_002016 exon3 c.A10703G p.Q3568R 0.206669 0.3403 0.1874 0.3528 0.55 T 1 N -0.923 T 0.014 T 0.005 T Pathogenic 1_152276660_G->C 1 152276660 152276660 G C snp 1108.22 1/1 4 45 8 37 0.82 exonic rs7540123 FLG AU,AD nonsynonymous SNV NM_002016 exon3 c.C10702G p.Q3568E 0.206669 0.3403 0.1874 0.3547 1 T 1 N -0.991 T 0.737 T 0.226 P Pathogenic 1_152276671_C->T 1 152276671 152276671 C T snp 1838.77 1/1 62 66 8 58 0.88 exonic rs7518080 FLG AU,AD nonsynonymous SNV NM_002016 exon3 c.G10691A p.R3564H 0.25639 0.38 0.1950 0.3743 0.71 T 1 N -0.983 T 0.045 T 0.003 T Pathogenic 1_152276772_C->A 1 152276772 152276772 C A snp 7286.77 1/1 99 250 4 246 0.98 exonic rs72697000 FLG AU,AD nonsynonymous SNV NM_002016 exon3 c.G10590T p.R3530S 0.290535 0.5853 0.109565 0.2343 0.5649 0.69 T 0.0 P -1.010 T 0.998 D 0.998 D Pathogenic 1_152276871_A->G 1 152276871 152276871 A G snp 7043.77 1/1 99 248 0 248 1.0 exonic rs3126066 FLG AU,AD synonymous SNV NM_002016 exon3 c.T10491C p.D3497D 0.447085 0.6448 0.255077 0.2779 0.5929 Uncertain 1_152276889_A->G 1 152276889 152276889 A G snp 6830.77 1/1 99 238 0 238 1.0 exonic rs3126067 FLG AU,AD synonymous SNV NM_002016 exon3 c.T10473C p.N3491N 0.522564 0.6498 0.333385 0.3007 0.5955 Uncertain 1_152277168_A->G 1 152277168 152277168 A G snp 3228.29 1/1 99 100 0 100 1.0 exonic rs3091276 FLG AU,AD synonymous SNV NM_002016 exon3 c.T10194C p.S3398S 0.473642 0.6587 0.262729 0.2896 0.6037 Uncertain 1_152277345_C->T 1 152277345 152277345 C T snp 7482.77 1/1 99 249 0 249 1.0 exonic rs2065956 FLG AU,AD synonymous SNV NM_002016 exon3 c.G10017A p.Q3339Q 0.28754 0.5823 0.108027 0.2293 0.5600 Uncertain 1_152277396_T->C 1 152277396 152277396 T C snp 6820.77 1/1 99 235 0 235 1.0 exonic rs6681433 FLG AU,AD synonymous SNV NM_002016 exon3 c.A9966G p.Q3322Q 0.341054 0.6062 0.156005 0.2611 0.5814 Uncertain 1_152277717_C->A 1 152277717 152277717 C A snp 2292.77 1/1 99 178 1 177 0.99 exonic rs9436066 FLG AU,AD synonymous SNV NM_002016 exon3 c.G9645T p.V3215V 0.469649 0.6835 0.251771 0.2992 0.6441 Uncertain 1_152277822_T->C 1 152277822 152277822 T C snp 842.77 1/1 69 33 0 33 1.0 exonic rs3126069 FLG AU,AD synonymous SNV NM_002016 exon3 c.A9540G p.S3180S 0.223842 0.4831 0.0917 0.2618 Uncertain 1_152277826_A->C 1 152277826 152277826 A C snp 853.77 1/1 69 32 0 32 1.0 exonic rs2065957 FLG AU,AD nonsynonymous SNV NM_002016 exon3 c.T9536G p.V3179G 0.39357 0.5883 0.148844 0.1330 0.2995 0.58 T 0.0 P -1.135 T 0.0 T 0.0 T Pathogenic 1_152278643_A->G 1 152278643 152278643 A G snp 773.77 0/1 99 250 196 54 0.22 exonic rs772689628 FLG AU,AD nonsynonymous SNV NM_002016 exon3 c.T8719C p.W2907R 8.417e-06 0 0.66 T 1 N -0.995 T 0.0 T 0.0 T Pathogenic 1_152278662_A->G 1 152278662 152278662 A G snp 1073.77 0/1 99 250 187 63 0.25 exonic rs776862937 FLG AU,AD synonymous SNV NM_002016 exon3 c.T8700C p.H2900H 7.541e-05 0 Uncertain 1_152278670_C->G 1 152278670 152278670 C G snp 1235.77 0/1 99 250 186 64 0.26 exonic rs150427834 FLG AU,AD nonsynonymous SNV NM_002016 exon3 c.G8692C p.E2898Q 0.007427 0.0035 0.0002 0.18 T 1 N -0.951 T 0.896 T 0.734 P Pathogenic 1_152278689_C->A 1 152278689 152278689 C A snp 7869.77 1/1 99 250 1 249 1.0 exonic rs57672167 FLG AU,AD synonymous SNV NM_002016 exon3 c.G8673T p.V2891V 0.396366 0.6101 0.180231 0.2692 0.5836 Uncertain 1_152278762_A->C 1 152278762 152278762 A C snp 431.77 0/1 99 250 215 35 0.14 exonic rs562496957 FLG AU,AD nonsynonymous SNV NM_002016 exon3 c.T8600G p.I2867S 0.0139776 1.664e-05 0 1 T 1 N -0.932 T 0.0 T 0.0 T Pathogenic 1_152278770_A->C 1 152278770 152278770 A C snp 312.77 0/1 99 250 220 30 0.12 exonic FLG AU,AD nonsynonymous SNV NM_002016 exon3 c.T8592G p.H2864Q 0.51 T 1 N -0.941 T 0.0 T 0.0 T Pathogenic 1_152278771_T->C 1 152278771 152278771 T C snp 284.77 0/1 99 250 219 31 0.12 exonic FLG AU,AD nonsynonymous SNV NM_002016 exon3 c.A8591G p.H2864R 0.9 T 1 N -0.950 T 0.0 T 0.0 T Pathogenic 1_152278772_G->A 1 152278772 152278772 G A snp 278.77 0/1 99 250 219 31 0.12 exonic FLG AU,AD nonsynonymous SNV NM_002016 exon3 c.C8590T p.H2864Y 0.43 T 1 N -0.913 T 0.028 T 0.015 T Pathogenic 1_152278775_T->A 1 152278775 152278775 T A snp 276.77 0/1 99 250 219 31 0.12 exonic FLG AU,AD nonsynonymous SNV NM_002016 exon3 c.A8587T p.T2863S 0.38 T 1 N -0.932 T 0.477 P 0.241 P Pathogenic 1_152278788_G->A 1 152278788 152278788 G A snp 328.77 0/1 99 249 215 34 0.14 exonic rs748144732 FLG AU,AD synonymous SNV NM_002016 exon3 c.C8574T p.H2858H 0.0002 0 Uncertain 1_152278809_G->A 1 152278809 152278809 G A snp 292.77 0/1 99 238 206 32 0.13 exonic FLG AU,AD synonymous SNV NM_002016 exon3 c.C8553T p.S2851S Uncertain 1_152278814_C->T 1 152278814 152278814 C T snp 1721.77 0/1 99 233 163 70 0.3 exonic rs2184952 FLG AU,AD nonsynonymous SNV NM_002016 exon3 c.G8548A p.G2850S 0.060298 0.1115 0.3499 0.56 T 1 N -0.988 T 0.221 T 0.121 T Pathogenic 1_152278856_T->G 1 152278856 152278856 T G snp 1372.77 0/1 99 191 141 50 0.26 exonic rs11582087 FLG AU,AD nonsynonymous SNV NM_002016 exon3 c.A8506C p.S2836R 0.084081 0.1893 0.3978 0.3 T 1 N -0.925 T 0.797 T 0.088 P Pathogenic 1_152279019_G->A 1 152279019 152279019 G A snp 1679.77 0/1 99 250 166 84 0.34 exonic rs57670307 FLG AU,AD synonymous SNV NM_002016 exon3 c.C8343T p.D2781D 0.057488 0.1823 0.3884 Uncertain 1_152279729_C->T 1 152279729 152279729 C T snp 7554.77 1/1 99 250 0 250 1.0 exonic rs3126072 FLG AU,AD nonsynonymous SNV NM_002016 exon3 c.G7633A p.G2545R 0.47484 0.6548 0.281154 0.2974 0.6037 0.57 T 0.0 P -1.054 T 0.0 T 0.0 T Pathogenic 1_152279841_G->C 1 152279841 152279841 G C snp 4930.77 1/1 99 162 0 162 1.0 exonic rs3126074 FLG AU,AD nonsynonymous SNV NM_002016 exon3 c.C7521G p.H2507Q 0.46226 0.6548 0.269799 0.2943 0.6041 0.64 T 0.0 P -0.937 T 0.0 T 0.0 T Pathogenic 1_152279920_A->G 1 152279920 152279920 A G snp 1407.77 1/1 99 36 0 36 1.0 exonic rs55650366 FLG AU,AD nonsynonymous SNV NM_002016 exon3 c.T7442C p.L2481S 0.342452 0.6071 0.157620 0.2608 0.5822 1 T 0.0 P -1.020 T 0.0 T 0.0 T Pathogenic 1_152280685_C->A 1 152280685 152280685 C A snp 339.77 0/1 99 247 219 28 0.11 exonic rs544807449 FLG AU,AD nonsynonymous SNV NM_002016 exon3 c.G6677T p.G2226V 0.183307 0.3026 0.0814 0.1924 0.27 T 1 N -0.974 T 0.868 T 0.372 P Pathogenic 1_152280687_C->T 1 152280687 152280687 C T snp 333.77 0/1 99 247 220 27 0.11 exonic rs564482396 FLG AU,AD synonymous SNV NM_002016 exon3 c.G6675A p.V2225V 0.183307 0.3026 0.0825 0.1965 Uncertain 1_152280688_A->G 1 152280688 152280688 A G snp 345.77 0/1 99 247 219 28 0.11 exonic rs116918835 FLG AU,AD nonsynonymous SNV NM_002016 exon3 c.T6674C p.V2225A 0.183307 0.3026 0.0849 0.2071 0.8 T 1 N -0.929 T 0.001 T 0.0 T Pathogenic 1_152280691_A->T 1 152280691 152280691 A T snp 445.77 0/1 99 244 213 31 0.13 exonic rs117945779 FLG AU,AD nonsynonymous SNV NM_002016 exon3 c.T6671A p.L2224Q 0.191494 0.3026 0.0900 0.2142 0.77 T 1 N -0.999 T 0.0 T 0.0 T Pathogenic 1_152280736_T->C 1 152280736 152280736 T C snp 2716.77 0/1 99 250 152 98 0.39 exonic rs66977240 FLG AU,AD nonsynonymous SNV NM_002016 exon3 c.A6626G p.H2209R 0.2357 0.4141 0.71 T 1 N -0.984 T 0.0 T 0.0 T Pathogenic 1_152280759_A->G 1 152280759 152280759 A G snp 2663.77 0/1 99 250 152 98 0.39 exonic rs2338554 FLG AU,AD synonymous SNV NM_002016 exon3 c.T6603C p.D2201D 0.367212 0.4454 0.203829 0.2416 0.4183 Uncertain 1_152280782_A->G 1 152280782 152280782 A G snp 8612.77 1/1 99 249 0 249 1.0 exonic rs2184953 FLG AU,AD nonsynonymous SNV NM_002016 exon3 c.T6580C p.Y2194H 0.539736 0.6607 0.3176 0.6083 0.12 T 0.0 P -0.924 T 0.003 T 0.001 T Pathogenic 1_152280788_T->G 1 152280788 152280788 T G snp 2795.77 0/1 99 243 139 104 0.43 exonic rs66954353 FLG AU,AD nonsynonymous SNV NM_002016 exon3 c.A6574C p.K2192Q 0.143626 0.2371 0.4187 0.55 T 0.0 P -1.050 T 0.0 T 0.0 T Pathogenic 1_152280864_A->G 1 152280864 152280864 A G snp 6894.77 1/1 99 212 0 212 1.0 exonic rs2184954 FLG AU,AD synonymous SNV NM_002016 exon3 c.T6498C p.S2166S 0.463658 0.6577 0.269840 0.2946 0.6055 Uncertain 1_152280900_T->G 1 152280900 152280900 T G snp 2765.77 0/1 99 209 108 101 0.48 exonic rs74129452 FLG AU,AD nonsynonymous SNV NM_002016 exon3 c.A6462C p.Q2154H 0.34385 0.4444 0.2366 0.4189 0.18 T 1 N -0.888 T 0.0 T 0.0 T Pathogenic 1_152281007_A->G 1 152281007 152281007 A G snp 3380.77 0/1 99 250 122 128 0.51 exonic rs7512553 FLG AU,AD nonsynonymous SNV NM_002016 exon3 c.T6355C p.Y2119H 0.327676 0.4355 0.195294 0.2207 0.4116 0.56 T 1 N -0.997 T 0.0 T 0.0 T Pathogenic 1_152281008_A->G 1 152281008 152281008 A G snp 3419.77 0/1 99 250 122 128 0.51 exonic rs7512554 FLG AU,AD synonymous SNV NM_002016 exon3 c.T6354C p.H2118H 0.327676 0.4355 0.194449 0.2207 0.4116 Uncertain 1_152281039_G->A 1 152281039 152281039 G A snp 3385.77 0/1 99 250 122 128 0.51 exonic rs7522925 FLG AU,AD nonsynonymous SNV NM_002016 exon3 c.C6323T p.A2108V 0.209519 0.2208 0.4111 0.3 T 1 N -0.931 T 0.324 T 0.021 T Pathogenic 1_152281228_C->G 1 152281228 152281228 C G snp 2245.77 0/1 99 199 114 85 0.43 exonic rs7546186 FLG AU,AD nonsynonymous SNV NM_002016 exon3 c.G6134C p.S2045T 0.197846 0.2189 0.4047 0.54 T 1 N -1.007 T 0.899 T 0.722 P Pathogenic 1_152281290_A->G 1 152281290 152281290 A G snp 1237.77 0/1 99 81 40 41 0.51 exonic rs80353812 FLG AU,AD synonymous SNV NM_002016 exon3 c.T6072C p.H2024H 0.328075 0.4355 0.172305 0.2205 0.4093 Uncertain 1_152281304_A->C 1 152281304 152281304 A C snp 862.77 0/1 99 53 26 27 0.51 exonic rs7512857 FLG AU,AD nonsynonymous SNV NM_002016 exon3 c.T6058G p.S2020A 0.198601 0.2186 0.4103 0.21 T 1 N -1.046 T 0.998 D 0.929 D Pathogenic 1_152281479_G->T 1 152281479 152281479 G T snp 1405.77 1/1 99 41 0 41 1.0 exonic rs3126079 FLG AU,AD nonsynonymous SNV NM_002016 exon3 c.C5883A p.H1961Q 0.538139 0.6607 0.346917 0.3173 0.6078 0.59 T 0.0 P -0.955 T 0.0 T 0.0 T Pathogenic 1_152281523_A->C 1 152281523 152281523 A C snp 707.77 0/1 99 95 62 33 0.35 exonic rs80059102 FLG AU,AD nonsynonymous SNV NM_002016 exon3 c.T5839G p.W1947G 0.2197 0.4090 0.43 T 1 N -0.950 T 0.0 T 0.0 T Pathogenic 1_152281534_A->T 1 152281534 152281534 A T snp 588.77 0/1 99 116 84 32 0.28 exonic rs113544881 FLG AU,AD nonsynonymous SNV NM_002016 exon3 c.T5828A p.L1943H 0.313498 0.4335 0.2157 0.4072 0.2 T 1 N -0.989 T 0.0 T 0.0 T Pathogenic 1_152281690_C->T 1 152281690 152281690 C T snp 7821.77 1/1 99 250 0 250 1.0 exonic rs12407748 FLG AU,AD nonsynonymous SNV NM_002016 exon3 c.G5672A p.R1891Q 0.28754 0.5843 0.107950 0.2286 0.5600 0.76 T 0.0 P -0.962 T 0.665 T 0.172 P Pathogenic 1_152281948_G->A 1 152281948 152281948 G A snp 4285.77 1/1 99 153 0 153 1.0 exonic rs12405241 FLG AU,AD nonsynonymous SNV NM_002016 exon3 c.C5414T p.A1805V 0.28754 0.5843 0.107753 0.2288 0.5616 0.35 T 0.0 P -0.975 T 0.999 D 0.959 D Pathogenic 1_152282267_G->A 1 152282267 152282267 G A snp 3960.77 1/1 99 141 0 141 1.0 exonic rs12405278 FLG AU,AD nonsynonymous SNV NM_002016 exon3 c.C5095T p.R1699C 0.28774 0.5843 0.107720 0.2288 0.5618 0.06 T 0.0 P -1.024 T 0.999 D 0.912 D Pathogenic 1_152282311_C->T 1 152282311 152282311 C T snp 2655.77 1/1 99 92 1 91 0.99 exonic rs12407807 FLG AU,AD nonsynonymous SNV NM_002016 exon3 c.G5051A p.R1684H 0.296725 0.5843 0.118714 0.2320 0.5622 0.3 T 0.0 P -1.019 T 0.999 D 0.974 D Pathogenic 1_152282917_G->T 1 152282917 152282917 G T snp 4289.77 1/1 99 155 0 155 1.0 exonic rs11204978 FLG AU,AD nonsynonymous SNV NM_002016 exon3 c.C4445A p.S1482Y 0.287141 0.5823 0.107720 0.2287 0.5608 1 T 0.0 P -0.973 T 0.767 T 0.341 P Pathogenic 1_152283236_T->C 1 152283236 152283236 T C snp 2537.77 1/1 99 85 0 85 1.0 exonic rs11581433 FLG AU,AD nonsynonymous SNV NM_002016 exon3 c.A4126G p.R1376G 0.343051 0.6062 0.157130 0.2614 0.5787 1 T 0.0 P -0.960 T 0.0 T 0.001 T Pathogenic 1_152283283_C->T 1 152283283 152283283 C T snp 2373.77 1/1 99 76 0 76 1.0 exonic rs11586631 FLG AU,AD nonsynonymous SNV NM_002016 exon3 c.G4079A p.R1360H 0.28774 0.5823 0.107676 0.2289 0.5593 0.55 T 0.0 P -0.896 T 0.406 T 0.051 T Pathogenic 1_152283862_G->C 1 152283862 152283862 G C snp 175.77 0/1 63 16 5 11 0.69 exonic rs58001094 FLG AU,AD nonsynonymous SNV NM_002016 exon3 c.C3500G p.A1167G 0.534145 0.6577 0.310165 0.3040 0.5799 0.41 T 0.0 P -0.905 T 0.011 T 0.005 T Pathogenic 1_152283975_A->G 1 152283975 152283975 A G snp 4996.77 1/1 99 178 0 178 1.0 exonic rs66831674 FLG AU,AD synonymous SNV NM_002016 exon3 c.T3387C p.S1129S 0.463059 0.6558 0.263611 0.2943 0.6018 Uncertain 1_152284854_A->G 1 152284854 152284854 A G snp 4838.77 1/1 99 171 2 169 0.99 exonic rs3120653 FLG AU,AD synonymous SNV NM_002016 exon3 c.T2508C p.D836D 0.473243 0.6558 0.282177 0.2978 0.6039 Uncertain 1_152285099_C->T 1 152285099 152285099 C T snp 6117.77 1/1 99 217 0 217 1.0 exonic rs74129461 FLG AU,AD nonsynonymous SNV NM_002016 exon3 c.G2263A p.E755K 0.327676 0.6062 0.139243 0.2559 0.5815 0.15 T 0.0 P -0.909 T 0.808 T 0.224 P Pathogenic 1_152285930_G->A 1 152285930 152285930 G A snp 4383.77 1/1 99 149 0 149 1.0 exonic rs11584340 FLG AU,AD nonsynonymous SNV NM_002016 exon3 c.C1432T p.P478S 0.344649 0.6062 0.158312 0.2613 0.5820 1 T 0.0 P -0.999 T 0.02 T 0.034 T ID=CM084968;DIS=Psoriasis, increased risk, association with;TAG=DP;PUB=18193244 DP Pathogenic 1_152286002_T->C 1 152286002 152286002 T C snp 6279.77 1/1 99 215 0 215 1.0 exonic rs2011331 FLG AU,AD nonsynonymous SNV NM_002016 exon3 c.A1360G p.T454A 0.464058 0.6587 0.270567 0.2949 0.6055 0.96 T 0.0 P -0.902 T 0.04 T 0.006 T Pathogenic 1_152286032_C->T 1 152286032 152286032 C T snp 6686.77 1/1 99 243 0 243 1.0 exonic rs11588170 FLG AU,AD nonsynonymous SNV NM_002016 exon3 c.G1330A p.G444R 0.287141 0.5823 0.107796 0.2287 0.5609 0.57 T 0.0 P -0.906 T 0.942 T 0.816 D Pathogenic 1_152286367_C->A 1 152286367 152286367 C A snp 1353.77 1/1 99 37 0 37 1.0 exonic rs41267154 FLG AU,AD nonsynonymous SNV NM_002016 exon3 c.G995T p.G332V 0.340655 0.6062 0.155774 0.2603 0.5803 0.24 T 0.0 P -0.920 T 1.0 D 0.995 D Pathogenic 1_152287342_T->- 1 152287342 152287342 T - indel 214.74 1/1 27 14 0 14 1.0 ncRNA_exonic rs34224823 FLG-AS1 AU 0.350839 0.6101 Uncertain 1_152323132_G->T 1 152323132 152323132 G T snp 5074.77 1/1 99 177 0 177 1.0 exonic rs12568784 FLG2 AU stopgain NM_001014342 exon3 c.C7130A p.S2377X 0.316893 0.4554 0.193449 0.2323 0.4564 0.81 T 0.029 P ID=CM1311867;DIS=Potential protein deficiency;TAG=DP;PUB=24176758 DP Pathogenic 1_152325732_G->A 1 152325732 152325732 G A snp 8065.77 1/1 99 249 3 246 0.99 exonic rs12022217 FLG2 AU synonymous SNV NM_001014342 exon3 c.C4530T p.H1510H 0.316494 0.4534 0.193449 0.2322 0.4576 Uncertain 1_152327469_C->T 1 152327469 152327469 C T snp 6190.77 1/1 99 198 1 197 0.99 exonic rs76514540 FLG2 AU synonymous SNV NM_001014342 exon3 c.G2793A p.Q931Q 0.239617 0.4534 0.097801 0.1833 0.3789 Uncertain 1_152327502_A->G 1 152327502 152327502 A G snp 5370.77 1/1 99 165 1 164 0.99 exonic rs138997916 FLG2 AU synonymous SNV NM_001014342 exon3 c.T2760C p.S920S 0.194688 0.4018 0.0278 0.0934 Uncertain 1_152327526_T->C 1 152327526 152327526 T C snp 3406.77 1/1 99 101 0 101 1.0 exonic rs12758283 FLG2 AU synonymous SNV NM_001014342 exon3 c.A2736G p.Q912Q 0.0451278 0.1081 0.0001 0.0004 Uncertain 1_152327535_A->G 1 152327535 152327535 A G snp 2462.77 1/1 99 67 0 67 1.0 exonic rs12754184 FLG2 AU synonymous SNV NM_001014342 exon3 c.T2727C p.G909G 0.047524 0.1161 2.614e-05 0 Uncertain 1_152327542_T->G 1 152327542 152327542 T G snp 1583.77 1/1 99 44 0 44 1.0 exonic rs12758293 FLG2 AU nonsynonymous SNV NM_001014342 exon3 c.A2720C p.Y907S 0.0505192 0.124 1.742e-05 0 0.95 T 1 N -0.952 T 0.0 T 0.0 T Pathogenic 1_152327558_T->A 1 152327558 152327558 T A snp 122.9 1/1 15 8 0 8 1.0 exonic rs147523097 FLG2 AU nonsynonymous SNV NM_001014342 exon3 c.A2704T p.T902S 0.0469249 0.1141 1 T 1 N -0.947 T 0.001 T 0.0 T Pathogenic 1_152327620_T->G 1 152327620 152327620 T G snp 58.28 1/1 9 12 0 12 1.0 exonic rs79239476 FLG2 AU nonsynonymous SNV NM_001014342 exon3 c.A2642C p.Y881S 0.0417332 0.0982 0.001162 0.0005 0 1 T 1 N -0.933 T 0.0 T 0.0 T Pathogenic 1_152327633_T->C 1 152327633 152327633 T C snp 615.77 1/1 51 28 0 28 1.0 exonic rs144938115 FLG2 AU nonsynonymous SNV NM_001014342 exon3 c.A2629G p.S877G 0.0419329 0.0982 0.002788 0.0002 0 0.63 T 1 N -0.909 T 0.0 T 0.001 T Pathogenic 1_152327652_G->T 1 152327652 152327652 G T snp 1707.77 1/1 99 60 3 57 0.95 exonic rs12737224 FLG2 AU synonymous SNV NM_001014342 exon3 c.C2610A p.G870G 0.0443291 0.1062 3.473e-05 0 Uncertain 1_152327656_G->A 1 152327656 152327656 G A snp 1742.77 1/1 86 65 4 61 0.94 exonic rs34309186 FLG2 AU nonsynonymous SNV NM_001014342 exon3 c.C2606T p.S869F 0.0421326 0.0942 3.471e-05 0 0.08 T 1 N -1.120 T 0.999 D 0.921 D Pathogenic 1_152327658_T->A 1 152327658 152327658 T A snp 1826.77 1/1 99 65 0 65 1.0 exonic rs12724005 FLG2 AU synonymous SNV NM_001014342 exon3 c.A2604T p.T868T 0.0449281 0.1071 3.494e-05 0 Uncertain 1_152327667_C->T 1 152327667 152327667 C T snp 1880.77 1/1 99 65 0 65 1.0 exonic rs12738471 FLG2 AU synonymous SNV NM_001014342 exon3 c.G2595A p.S865S 0.157149 0.3373 0.0005 0.0003 Uncertain 1_152328411_A->G 1 152328411 152328411 A G snp 7781.77 1/1 99 250 0 250 1.0 exonic rs6679449 FLG2 AU synonymous SNV NM_001014342 exon3 c.T1851C p.S617S 0.483227 0.5079 0.332231 0.2941 0.4846 Uncertain 1_152329435_C->T 1 152329435 152329435 C T snp 7865.77 1/1 99 250 0 250 1.0 exonic rs2282303 FLG2 AU nonsynonymous SNV NM_001014342 exon3 c.G827A p.R276Q 0.348243 0.502 0.216362 0.2407 0.4827 0.68 T 0.0 P -1.090 T 0.005 T 0.0 T Pathogenic 1_152331240_G->A 1 152331240 152331240 G A snp 3534.77 1/1 99 131 0 131 1.0 exonic rs3818831 FLG2 AU nonsynonymous SNV NM_001014342 exon2 c.C121T p.L41F 0.371805 0.501 0.243195 0.2485 0.4783 1 T 0.000 P -0.934 T 0.0 T 0.0 T Pathogenic 1_152331533_T->G 1 152331533 152331533 T G snp 48.74 1/1 6 2 0 2 1.0 ncRNA_intronic rs2275264 FLG-AS1 AU 0.48123 0.5079 Uncertain 1_152382062_C->T 1 152382062 152382062 C T snp 1847.77 1/1 99 60 0 60 1.0 UTR3 rs10888486 CRNN AU 0.234425 0.4296 0.114409 0.2041 0.4191 Uncertain 1_152382120_C->T 1 152382120 152382120 C T snp 4547.77 1/1 99 152 2 150 0.99 exonic rs3829868 CRNN AU nonsynonymous SNV NM_016190 exon3 c.G1438A p.G480S 0.246805 0.4315 0.128402 0.2071 0.4189 0.03 T 0.0 P -1.028 T 0.18 T 0.079 T Pathogenic 1_152384498_-->T 1 152384498 152384498 - T indel 280.77 1/1 21 7 0 7 1.0 intronic rs3215709 CRNN AU NM_016190 exon2 c.2502-73insT Uncertain 1_152384759_A->G 1 152384759 152384759 A G snp 3885.77 1/1 99 140 0 140 1.0 intronic rs7521839 CRNN AU NM_016190 exon2 c.2653+37A>G 0.307907 0.4325 0.182070 0.2226 0.4208 Uncertain 1_152384833_T->C 1 152384833 152384833 T C snp 1332.77 1/1 99 43 0 43 1.0 intronic rs1923492 CRNN AU NM_016190 exon2 c.2653+111T>C 0.876797 0.9802 Uncertain 1_152484129_G->A 1 152484129 152484129 G A snp 3100.77 0/1 99 250 124 126 0.5 exonic rs2105117 LCE5A AU nonsynonymous SNV NM_178438 exon2 c.G119A p.C40Y 0.521965 0.6111 0.536214 0.6103 0.6628 0.05 T 0.0 P -0.971 T 0.014 T 0.003 T Pathogenic 1_152487979_C->T 1 152487979 152487979 C T snp 370.77 0/1 99 41 24 17 0.41 exonic rs2282296 CRCT1 AU synonymous SNV NM_019060 exon2 c.C120T p.C40C 0.479633 0.6081 0.567326 0.6420 0.6948 Uncertain 1_152488063_C->T 1 152488063 152488063 C T snp 214.77 0/1 99 35 22 13 0.37 exonic rs1053588 CRCT1 AU synonymous SNV NM_019060 exon2 c.C204T p.R68R 0.585064 0.6478 0.640156 0.6949 0.7383 Uncertain 1_152681543_T->C 1 152681543 152681543 T C snp 5330.77 1/1 99 189 0 189 1.0 UTR5 rs1332496 LCE4A AU 0.9998 1 0.999616 0.9996 1 Uncertain 1_152882135_A->G 1 152882135 152882135 A G snp 297.78 1/1 24 9 0 9 1.0 intronic rs11205132 IVL AU 0.413538 0.5615 Uncertain 1_152882610_A->G 1 152882610 152882610 A G snp 3993.77 1/1 99 134 0 134 1.0 exonic rs2229496 IVL AU nonsynonymous SNV NM_005547 exon2 c.A337G p.T113A 0.413738 0.5615 0.255497 0.2184 0.5928 0.77 T 0.000 P -0.929 T 0.0 T 0.0 T Pathogenic 1_152882979_C->T 1 152882979 152882979 C T snp 449.77 0/1 99 30 10 20 0.67 exonic rs17855670 IVL AU nonsynonymous SNV NM_005547 exon2 c.C706T p.P236S 0.72 T 1 N -0.906 T 0.0 T 0.003 T Pathogenic 1_152882981_A->T 1 152882981 152882981 A T snp 526.77 0/1 85 30 9 21 0.7 exonic rs62637699 IVL AU synonymous SNV NM_005547 exon2 c.A708T p.P236P Uncertain 1_152882982_C->G 1 152882982 152882982 C G snp 899.77 1/1 72 33 1 32 0.97 exonic rs7520711 IVL AU nonsynonymous SNV NM_005547 exon2 c.C709G p.Q237E 0.424321 0.5625 1 T 0.0 P -0.943 T 0.0 T 0.0 T Pathogenic 1_152883163_A->T 1 152883163 152883163 A T snp 1162.77 0/1 99 112 55 57 0.51 exonic rs190594462 IVL AU nonsynonymous SNV NM_005547 exon2 c.A890T p.D297V 0.00479233 0.0238 0.000082 0.0014 0.0316 0.26 T 1 N -0.934 T 0.174 T 0.08 T Pathogenic 1_152883608_G->A 1 152883608 152883608 G A snp 2912.77 1/1 99 102 3 99 0.97 exonic rs7545413 IVL AU synonymous SNV NM_005547 exon2 c.G1335A p.Q445Q 0.41234 0.5615 0.244846 0.2905 0.6484 Uncertain 1_152883680_A->G 1 152883680 152883680 A G snp 3628.77 1/1 99 133 0 133 1.0 exonic rs7535306 IVL AU synonymous SNV NM_005547 exon2 c.A1407G p.Q469Q 0.413538 0.5615 0.244798 0.2870 0.6273 Uncertain 1_152883711_G->C 1 152883711 152883711 G C snp 3916.77 1/1 99 143 1 142 0.99 exonic rs7545520 IVL AU nonsynonymous SNV NM_005547 exon2 c.G1438C p.V480L 0.41234 0.5615 0.243329 0.2679 0.6072 0.34 T 0.0 P -0.919 T 0.004 T 0.001 T Pathogenic 1_152884111_G->A 1 152884111 152884111 G A snp 522.77 1/1 39 19 0 19 1.0 UTR3 rs913996 IVL AU 0.411741 0.5615 Uncertain 1_152944594_C->T 1 152944594 152944594 C T snp 1756.77 0/1 99 165 96 69 0.42 exonic rs3170863 SPRR4 AU synonymous SNV NM_173080 exon2 c.C228T p.S76S 0.6252 0.6319 0.641012 0.5686 0.6712 Uncertain 1_152957573_T->C 1 152957573 152957573 T C snp 85.77 0/1 99 17 13 4 0.24 intronic rs1611760 SPRR1A AU 0.588259 0.6319 Uncertain 1_152957832_C->A 1 152957832 152957832 C A snp 1105.77 0/1 99 81 40 41 0.51 exonic rs1611762 SPRR1A AU nonsynonymous SNV NM_001199828 exon2 c.C126A p.H42Q 0.505391 0.5972 0.4921 0.5694 0.2 T 0.000 P -0.954 T 0.166 T 0.056 T Pathogenic 1_152957887_G->A 1 152957887 152957887 G A snp 1374.77 0/1 99 122 65 57 0.47 exonic rs1611764 SPRR1A AU nonsynonymous SNV NM_001199828 exon2 c.G181A p.V61I 0.561102 0.6319 0.575042 0.5345 0.6643 0.12 T 0.000 P -1.025 T 0.828 T 0.542 P Pathogenic 1_152975495_G->A 1 152975495 152975495 G A snp 1251.77 0/1 99 97 45 52 0.54 UTR5 rs2075739 SPRR3 AU 0.52496 0.6319 0.537214 0.5337 0.6746 Uncertain 1_152975715_C->T 1 152975715 152975715 C T snp 394.77 0/1 99 52 35 17 0.33 exonic rs28989168 SPRR3 AU synonymous SNV NM_005416 exon3 c.C219T p.G73G 0.000399361 0.0168 0.0273 Uncertain 1_152975739_T->A 1 152975739 152975739 T A snp 100.77 0/1 99 48 39 9 0.19 exonic rs17851565 SPRR3 AU synonymous SNV NM_005416 exon3 c.T243A p.G81G 2.57e-05 0.0001 Uncertain 1_152975763_C->A 1 152975763 152975763 C A snp 449.77 0/1 99 46 24 22 0.48 exonic rs1977734 SPRR3 AU synonymous SNV NM_005416 exon3 c.C267A p.G89G 0.524561 0.6319 0.536835 0.1596 0.3024 Uncertain 1_152975829_A->G 1 152975829 152975829 A G snp 1301.77 0/1 99 110 55 55 0.5 exonic rs1970328 SPRR3 AU synonymous SNV NM_005416 exon3 c.A333G p.E111E 0.52496 0.6319 0.537137 0.5296 0.6726 Uncertain 1_152975936_C->G 1 152975936 152975936 C G snp 1614.77 0/1 99 152 85 67 0.44 exonic rs139275808 SPRR3 AU nonsynonymous SNV NM_005416 exon3 c.C440G p.T147R 0.00778754 0.0387 0.0038 0.0527 0.13 T 1 N -1.120 T 1.0 D 0.986 D Pathogenic 1_152975941_C->G 1 152975941 152975941 C G snp 1570.77 0/1 99 150 85 65 0.43 exonic rs1055935 SPRR3 AU nonsynonymous SNV NM_005416 exon3 c.C445G p.L149V 0.583466 0.6319 0.591881 0.5448 0.6710 0.38 T 0.0 P -0.920 T 0.002 T 0.002 T Pathogenic 1_152976108_C->T 1 152976108 152976108 C T snp 102.77 0/1 99 11 6 5 0.45 UTR3 rs1015996 SPRR3 AU 0.52496 0.6319 Uncertain 1_152976114_G->C 1 152976114 152976114 G C snp 68.77 0/1 97 7 4 3 0.43 UTR3 rs1015995 SPRR3 AU 0.52496 0.6319 Uncertain 1_153004652_G->A 1 153004652 153004652 G A snp 37.77 0/1 66 6 4 2 0.33 intronic rs1334849 SPRR1B AU 0.49401 0.5913 Uncertain 1_153004721_A->T 1 153004721 153004721 A T snp 73.77 0/1 99 28 22 6 0.21 intronic rs1334848 SPRR1B AU 0.49401 0.5913 Uncertain 1_153004778_C->T 1 153004778 153004778 C T snp 478.77 0/1 99 74 49 25 0.34 intronic rs3820141 SPRR1B AU 0.49401 0.5913 0.491081 0.5045 0.6328 Uncertain 1_153004809_T->C 1 153004809 153004809 T C snp 845.77 0/1 99 100 64 36 0.36 UTR5 rs3181787 SPRR1B AU 0.49401 0.5913 0.496540 0.5058 0.6322 Uncertain 1_153004848_T->C 1 153004848 153004848 T C snp 1017.77 0/1 99 114 69 45 0.39 exonic rs3795381 SPRR1B AU synonymous SNV NM_003125 exon2 c.T27C p.P9P 0.49401 0.5913 0.496694 0.5025 0.6298 Uncertain 1_153004853_C->T 1 153004853 153004853 C T snp 1020.77 0/1 99 113 68 45 0.4 exonic rs3795382 SPRR1B AU nonsynonymous SNV NM_003125 exon2 c.C32T p.T11I 0.49401 0.5913 0.496694 0.5025 0.6301 0.37 T 0.0 P -0.911 T 0.0 T 0.001 T Pathogenic 1_153004983_C->T 1 153004983 153004983 C T snp 1281.77 0/1 99 102 55 47 0.46 exonic rs12195 SPRR1B AU synonymous SNV NM_003125 exon2 c.C162T p.P54P 0.497604 0.5923 0.505307 0.5094 0.6320 Uncertain 1_153005156_C->T 1 153005156 153005156 C T snp 2067.77 0/1 99 190 102 88 0.46 UTR3 rs2711 SPRR1B AU 0.49401 0.5913 Uncertain 1_153113139_G->A 1 153113139 153113139 G A snp 240.77 0/1 99 22 10 12 0.55 ncRNA_exonic rs2291979 SPRR2C AU 0.154752 0.3562 0.0797 0.3796 0 D 1.000 P -0.699 T Uncertain 1_153122310_G->A 1 153122310 153122310 G A snp 1272.77 1/1 90 47 0 47 1.0 UTR3 rs510277 SPRR2G AU 0.426518 0.5149 Uncertain 1_153233578_C->T 1 153233578 153233578 C T snp 221.77 0/1 99 33 21 12 0.36 exonic rs1143389 LOR AD synonymous SNV NM_000427 exon2 c.C153T p.C51C 0.20028 0.3194 0.120058 0.4103 0.5093 Uncertain 1_153233701_A->C 1 153233701 153233701 A C snp 301.77 0/1 99 37 16 21 0.57 exonic rs1143390 LOR AD synonymous SNV NM_000427 exon2 c.A276C p.G92G 0.398163 0.3562 0.5312 0.625 Uncertain 1_153270362_C->G 1 153270362 153270362 C G snp 556.77 1/1 42 14 0 14 1.0 UTR3 rs2771110 PGLYRP3 AU 0.541334 0.7282 Uncertain 1_153271524_C->T 1 153271524 153271524 C T snp 959.77 1/1 69 33 0 33 1.0 intronic rs821431 PGLYRP3 AU NM_052891 exon2 c.1157-64C>T 0.557508 0.7083 Uncertain 1_153276449_T->C 1 153276449 153276449 T C snp 1759.77 1/1 99 71 0 71 1.0 exonic rs41264632 PGLYRP3 AU nonsynonymous SNV NM_052891 exon4 c.A413G p.E138G 0.0405351 0.1062 0.011149 0.0206 0.0985 0.02 T 0.984 N -1.007 T 0.04 T 0.075 T ID=CM135667;DIS=Ulcerative colitis, association with;TAG=DP;PUB=23840689 DP Pathogenic 1_153277660_A->T 1 153277660 153277660 A T snp 1885.77 1/1 99 62 0 62 1.0 intronic rs2771112 PGLYRP3 AU NM_052891 exon5 c.7110+119A>T 0.571885 0.6895 Uncertain 1_153279598_C->T 1 153279598 153279598 C T snp 6300.77 1/1 99 240 0 240 1.0 exonic rs79540951 PGLYRP3 AU synonymous SNV NM_052891 exon2 c.G201A p.L67L 0.028754 0.0992 0.002614 0.0187 0.0930 Uncertain 1_153312850_C->T 1 153312850 153312850 C T snp 3683.77 1/1 99 134 0 134 1.0 intronic rs74604375 PGLYRP4 AU NM_020393 exon3 c.9614-6C>T 0.0225639 0.0962 0.002691 0.0122 0.0841 Uncertain 1_153314153_C->A 1 153314153 153314153 C A snp 663.77 1/1 48 25 0 25 1.0 exonic rs3006448 PGLYRP4 AU nonsynonymous SNV NM_020393 exon6 c.G575T p.G192V 0.844449 0.9058 0.823851 0.8447 0.8741 0.38 T 0.158 P -0.935 T 0.0 T 0.0 T ID=CM135679;DIS=Crohn's disease, increased risk;TAG=DP;PUB=23840689 DP Pathogenic 1_153315467_-->AAG 1 153315467 153315467 - AAG indel 798.73 1/1 45 15 0 15 1.0 intronic rs111499850 PGLYRP4 AU NM_020393 exon5 c.12323-98insAAG 0.927716 0.9058 Uncertain 1_153315579_A->G 1 153315579 153315579 A G snp 2652.77 1/1 99 94 0 94 1.0 exonic rs3014863 PGLYRP4 AU synonymous SNV NM_020393 exon5 c.T459C p.F153F 0.927117 0.9058 0.933415 0.9059 0.8746 Uncertain 1_153315784_T->C 1 153315784 153315784 T C snp 1141.77 1/1 84 38 0 38 1.0 intronic rs1865234 PGLYRP4 AU NM_020393 exon5 c.12442+100T>C 0.928115 0.9058 Uncertain 1_153320152_G->A 1 153320152 153320152 G A snp 292.78 1/1 24 8 0 8 1.0 intronic rs75404325 PGLYRP4 AU NM_020393 exon8 c.17117-207G>A 0.0239617 0.0982 Uncertain 1_153320159_G->C 1 153320159 153320159 G C snp 391.77 1/1 30 10 0 10 1.0 intronic rs2916207 PGLYRP4 AU NM_020393 exon8 c.17117-200G>C 0.84365 0.9058 Uncertain 1_153320334_T->C 1 153320334 153320334 T C snp 2517.77 1/1 99 90 0 90 1.0 intronic rs3006457 PGLYRP4 AU NM_020393 exon8 c.17117-25T>C 0.84365 0.9058 0.822670 0.8435 0.8732 Uncertain 1_153320343_A->G 1 153320343 153320343 A G snp 2695.77 1/1 99 95 0 95 1.0 intronic rs77835676 PGLYRP4 AU NM_020393 exon8 c.17117-16A>G 0.0239617 0.0982 0.003844 0.0126 0.0852 Uncertain 1_153320581_T->C 1 153320581 153320581 T C snp 886.77 1/1 66 28 0 28 1.0 intronic rs3006459 PGLYRP4 AU NM_020393 exon8 c.17212+127T>C 0.84365 0.9058 Uncertain 1_153332982_C->T 1 153332982 153332982 C T snp 188.77 0/1 99 12 5 7 0.58 intronic rs565507587 S100A9 AU NM_002965 exon3 c.2360-137C>T 0.000199681 0.001 Uncertain 1_153410822_C->A 1 153410822 153410822 C A snp 1760.77 1/1 99 59 0 59 1.0 exonic rs10888561 S100A7L2 AU nonsynonymous SNV NM_001045479 exon2 c.G17T p.G6V 0.614217 0.6042 0.667384 0.6923 0.5647 0.02 T 0.0 P -0.968 T Pathogenic 1_153412392_T->G 1 153412392 153412392 T G snp 5369.77 1/1 99 203 0 203 1.0 intronic rs3006428 S100A7L2 AU NM_001045479 exon3 c.2876-17T>G 0.826078 0.7649 0.871879 0.7919 0.7781 Uncertain 1_153431406_C->G 1 153431406 153431406 C G snp 1904.77 1/1 99 63 0 63 1.0 exonic rs3014837 S100A7 AU nonsynonymous SNV NM_002963 exon2 c.G84C p.E28D 0.983427 1 0.957942 0.9609 1 1 T 0.0 P -0.921 T 0.0 T 0.0 T Pathogenic 1_153509890_T->C 1 153509890 153509890 T C snp 988.77 0/1 99 123 75 48 0.39 exonic rs3795393 S100A5 AU nonsynonymous SNV NM_002962 exon4 c.A161G p.D54G 0.107029 0.244 0.056282 0.0908 0.2572 0.05 T 0.0 P -0.972 T 0.043 T 0.027 T Pathogenic 1_153516210_C->A 1 153516210 153516210 C A snp 182.77 0/1 99 17 9 8 0.47 UTR3 rs771748042 S100A4 AU 4.965e-05 0.0002 Uncertain 1_153587256_A->T 1 153587256 153587256 A T snp 688.77 1/1 54 19 0 19 1.0 UTR3 rs11548102 S100A14 AU 0.422724 0.6736 Uncertain 1_153587308_C->T 1 153587308 153587308 C T snp 1782.77 1/1 99 64 0 64 1.0 UTR3 rs11548104 S100A14 AU 0.662141 0.6776 Uncertain 1_153588208_G->A 1 153588208 153588208 G A snp 1209.77 1/1 87 38 0 38 1.0 intronic rs9792963 S100A14 AU NM_020672 exon3 c.944-96G>A 0.422324 0.6726 Uncertain 1_153588279_G->A 1 153588279 153588279 G A snp 3082.77 1/1 99 110 0 110 1.0 intronic rs9792967 S100A14 AU NM_020672 exon3 c.944-25G>A 0.422324 0.6726 0.371598 0.4797 0.6658 Uncertain 1_153591652_G->A 1 153591652 153591652 G A snp 304.78 1/1 24 9 0 9 1.0 intronic rs9726753 S100A13 AU NM_005979 exon1 c.144+138G>A 0.421925 0.6726 Uncertain 1_153600778_G->A 1 153600778 153600778 G A snp 921.77 1/1 69 25 1 24 0.96 intronic rs3806233 S100A13 AU NM_005979 exon4 c.9345+63G>A 0.447085 0.6845 Uncertain 1_153604029_C->T 1 153604029 153604029 C T snp 4181.77 1/1 99 155 0 155 1.0 intronic rs1046379 S100A1 AU NM_006271 exon3 c.1176-144C>T 0.863419 0.8353 0.7812 0.8493 Uncertain 1_153604112_G->A 1 153604112 153604112 G A snp 4919.77 1/1 99 170 0 170 1.0 intronic rs1046381 S100A1 AU NM_006271 exon3 c.1176-61G>A 0.588259 0.6825 Uncertain 1_153604422_T->C 1 153604422 153604422 T C snp 46.74 1/1 6 2 0 2 1.0 UTR3 rs1128894 S100A1 AU 0.621206 0.6935 Uncertain 1_153609039_T->C 1 153609039 153609039 T C snp 2903.77 1/1 99 103 0 103 1.0 intronic rs4845557 CHTOP AU 0.636182 0.6925 0.568353 0.5960 0.6822 Uncertain 1_153635425_G->A 1 153635425 153635425 G A snp 598.77 1/1 45 19 0 19 1.0 intronic rs3795396 ILF2 AU NM_001267809 exon3 c.623-69G>A 0.647564 0.6766 Uncertain 1_153636433_TAC->- 1 153636433 153636435 TAC - indel 578.73 0/1 51 16 2 14 0.88 intronic rs10598064 ILF2 AU NM_001267809 exon5 c.1647-85_1647-83delTAC 0.214457 0.0764 Uncertain 1_153636472_T->C 1 153636472 153636472 T C snp 1282.77 1/1 55 44 2 42 0.95 intronic rs4515830 ILF2 AU NM_001267809 exon5 c.1647-46T>C 0.170927 0.3036 0.386591 0.1647 0.2273 Uncertain 1_153636860_A->G 1 153636860 153636860 A G snp 4279.77 1/1 99 151 0 151 1.0 intronic rs4351684 ILF2 AU NM_001267809 exon6 c.2000-11A>G 0.651158 0.6954 0.582654 0.5939 0.6854 Uncertain 1_153637617_G->A 1 153637617 153637617 G A snp 1116.77 1/1 81 40 0 40 1.0 intronic rs3862047 ILF2 AU NM_001267809 exon7 c.2824-78G>A 0.470048 0.6815 Uncertain 1_153640665_G->A 1 153640665 153640665 G A snp 174.9 1/1 15 5 0 5 1.0 intronic rs10797096 ILF2 AU NM_001267809 exon10 c.5682+112G>A 0.471446 0.6885 Uncertain 1_153642835_G->C 1 153642835 153642835 G C snp 1172.77 1/1 84 41 0 41 1.0 intronic rs6663046 ILF2 AU NM_001267809 exon13 c.7835+129G>C 0.998203 0.999 Uncertain 1_153642909_A->G 1 153642909 153642909 A G snp 139.03 1/1 12 4 0 4 1.0 intronic rs11265625 ILF2 AU NM_001267809 exon13 c.7835+203A>G 0.462061 0.6885 Uncertain 1_153656352_T->G 1 153656352 153656352 T G snp 180.77 0/1 99 28 21 7 0.25 intronic rs9662664 NPR1 AU NM_000906 exon7 c.4716+52T>G 0.464257 0.6885 0.377338 0.4769 0.6843 Uncertain 1_153658480_G->A 1 153658480 153658480 G A snp 394.77 0/1 99 30 13 17 0.57 intronic rs11264236 NPR1 AU NM_000906 exon10 c.7014-118G>A 0.141973 0.1647 Uncertain 1_153661375_G->- 1 153661375 153661375 G - indel 2356.73 0/1 99 133 67 66 0.5 intronic rs34402066 NPR1 AU NM_000906 exon16 c.9844-53delG 0.46865 0.6885 Uncertain 1_153733334_G->A 1 153733334 153733334 G A snp 911.77 0/1 99 99 54 45 0.45 exonic INTS3 AU nonsynonymous SNV NM_023015 exon13 c.G1349A p.G450D 1 T 0.989 D -0.924 T 0.503 P 0.176 P Pathogenic 1_153743234_T->C 1 153743234 153743234 T C snp 2215.77 1/1 99 80 0 80 1.0 intronic rs6675978 INTS3 AU NM_023015 exon25 c.42099+25T>C 0.442292 0.7004 0.393049 0.4467 0.7145 Uncertain 1_153743289_C->G 1 153743289 153743289 C G snp 997.77 0/1 99 71 28 43 0.61 intronic rs12068256 INTS3 AU NM_023015 exon25 c.42099+80C>G 0.335264 0.4127 Uncertain 1_153750207_-->CTT 1 153750207 153750207 - CTT indel 5706.73 0/1 99 205 99 106 0.52 intronic rs139720425 SLC27A3 AU NM_024330 exon4 c.2404-29insCTT 0.367013 0.5198 0.373582 0.3138 0.4052 Uncertain 1_153750215_C->- 1 153750215 153750215 C - indel 3488.73 0/1 99 220 104 116 0.53 intronic rs374974027 SLC27A3 AU NM_024330 exon4 c.2404-21delC 0.390974 0.5417 0.3029 0.3836 Uncertain 1_153906397_A->G 1 153906397 153906397 A G snp 2753.77 1/1 99 103 0 103 1.0 intronic rs11264621 DENND4B AU NM_014856 exon9 c.3575+50A>G 0.672724 0.9315 0.534483 0.5787 0.9391 Uncertain 1_153913684_C->A 1 153913684 153913684 C A snp 1151.77 1/1 84 43 0 43 1.0 intronic rs2297895 DENND4B AU NM_014856 exon21 c.10934-22C>A 0.177117 0.4752 0.096593 0.1497 0.5062 Uncertain 1_153913770_A->G 1 153913770 153913770 A G snp 2535.77 1/1 99 93 0 93 1.0 splicing rs2252508 DENND4B AU NM_014856 exon21 c.10993+5A>G 0.705072 0.9315 0.551211 0.5800 0.9392 Pathogenic 1_153954674_T->C 1 153954674 153954674 T C snp 1348.77 1/1 96 48 0 48 1.0 intronic rs10908578 RAB13 AU NM_002870 exon1 c.78+22T>C 0.684704 0.9296 0.518453 0.5728 0.9382 Uncertain 1_153954779_ACAC->- 1 153954779 153954782 ACAC - indel 607.73 1/1 37 21 0 21 1.0 intronic rs56853500 RAB13 AU NM_002870 exon2 c.292-87_292-84delACAC 0.168331 0.3046 Uncertain 1_153964396_-->AA 1 153964396 153964396 - AA indel 9020.73 1/1 99 173 0 173 1.0 intronic rs34521811 RPS27 AU NM_001030 exon4 c.1268-144insAA 0.682508 0.9375 Uncertain 1_154026642_A->G 1 154026642 154026642 A G snp 1726.77 1/1 99 57 0 57 1.0 intronic rs34752019 NUP210L AU NM_001159484 exon14 c.61393-61A>G 0.180911 0.4494 Uncertain 1_154061855_T->G 1 154061855 154061855 T G snp 1532.77 1/1 99 60 0 60 1.0 intronic rs2066135 NUP210L AU NM_001159484 exon23 c.96586-41T>G 1 1 1 1 Uncertain 1_154108387_G->A 1 154108387 154108387 G A snp 4821.77 1/1 99 171 0 171 1.0 exonic rs3001361 NUP210L AU synonymous SNV NM_001159484 exon7 c.C912T p.N304N 0.96905 1 0.972815 0.9915 1 Uncertain 1_154141908_A->G 1 154141908 154141908 A G snp 1815.77 1/1 99 63 0 63 1.0 intronic rs4845364 TPM3 AR,AD NM_152263 exon2 c.1447+49A>G 0.732228 0.8562 0.602184 0.6077 0.8769 Uncertain 1_154144681_A->T 1 154144681 154144681 A T snp 5781.77 1/1 99 201 0 201 1.0 intronic rs34335016 TPM3 AR,AD NM_001278188 exon4 c.14466+101A>T 0.137979 0.3313 0.1269 0.3951 Uncertain 1_154145532_C->G 1 154145532 154145532 C G snp 3411.77 1/1 99 125 0 125 1.0 intronic rs28372838 TPM3 AR,AD NM_152263 exon7 c.5147-27C>G 0.202077 0.3323 0.146625 0.1375 0.3782 Uncertain 1_154163526_G->C 1 154163526 154163526 G C snp 288.78 1/1 24 8 0 8 1.0 intronic rs11802893 TPM3 AR,AD NM_152263 exon9 c.23249-135G>C 0.191693 0.3353 Uncertain 1_154192143_G->A 1 154192143 154192143 G A snp 1234.77 1/1 90 37 0 37 1.0 intronic rs9803862 C1orf43 AU NM_001297720 exon5 c.12383-168G>A 0.664137 0.9524 Uncertain 1_154192463_-->T 1 154192463 154192463 - T indel 376.73 1/1 45 17 0 17 1.0 intronic rs34176728 C1orf43 AU NM_001297720 exon5 c.12485+50insT 0.652955 0.9335 0.5485 0.8843 Uncertain 1_154199543_T->C 1 154199543 154199543 T C snp 56.74 1/1 6 3 0 3 1.0 intronic rs4845365 UBAP2L AU NM_001127320 exon3 c.2158-214T>C 1 1 Uncertain 1_154207635_G->T 1 154207635 154207635 G T snp 574.77 1/1 42 22 0 22 1.0 intronic rs12023901 UBAP2L AU NM_001127320 exon6 c.10072-36G>T 0.142971 0.4256 0.060092 0.1123 0.4067 Uncertain 1_154209169_A->T 1 154209169 154209169 A T snp 1592.77 1/1 99 61 0 61 1.0 intronic rs3762340 UBAP2L AU NM_001127320 exon7 c.11488+82A>T 0.136781 0.4177 Uncertain 1_154209490_T->C 1 154209490 154209490 T C snp 5921.77 1/1 99 202 0 202 1.0 intronic rs2274993 UBAP2L AU NM_001127320 exon8 c.11900-9T>C 0.145367 0.4286 0.083884 0.1266 0.4581 Uncertain 1_154218551_T->- 1 154218551 154218551 T - indel 199.8 1/1 18 6 0 6 1.0 intronic rs11301778 UBAP2L AU NM_001127320 exon11 c.21080-128delT 0.771965 0.9534 Uncertain 1_154227239_C->A 1 154227239 154227239 C A snp 880.77 1/1 66 25 0 25 1.0 intronic rs1194604 UBAP2L AU NM_001127320 exon16 c.29712-72C>A Uncertain 1_154227292_-->T 1 154227292 154227292 - T indel 926.14 1/1 9 78 8 70 0.9 intronic rs11412846 UBAP2L AU NM_001127320 exon16 c.29712-19insT 0.446255 0.4615 0.5114 Uncertain 1_154228287_T->C 1 154228287 154228287 T C snp 3188.81 1/1 99 118 0 118 1.0 intronic rs1194603 UBAP2L AU NM_001127320 exon18 c.30632+56T>C 0.773762 0.9534 0.606220 Uncertain 1_154232610_A->G 1 154232610 154232610 A G snp 1183.77 1/1 87 40 0 40 1.0 intronic rs3828077 UBAP2L AU NM_001127320 exon22 c.34906+105A>G 0.145168 0.4286 Uncertain 1_154243097_G->A 1 154243097 154243097 G A snp 1310.77 1/1 99 34 0 34 1.0 UTR3 rs2282227 UBAP2L AU 0.207867 0.4236 Uncertain 1_154243115_C->T 1 154243115 154243115 C T snp 767.77 1/1 57 19 0 19 1.0 UTR3 rs1044013 UBAP2L AU 0.489217 0.4752 Uncertain 1_154245142_T->G 1 154245142 154245142 T G snp 2520.77 1/1 99 93 0 93 1.0 UTR5 rs11265425 HAX1 AR 0.207668 0.4226 0.212659 Uncertain 1_154285052_G->A 1 154285052 154285052 G A snp 1441.77 1/1 99 55 2 53 0.96 intergenic rs11265530 HAX1 AR 0.321286 0.254 Uncertain 1_154285078_T->G 1 154285078 154285078 T G snp 1102.77 1/1 81 49 0 49 1.0 intergenic rs11581043 HAX1 AR 0.465655 0.3502 Uncertain 1_154293675_G->A 1 154293675 154293675 G A snp 1036.77 0/1 99 105 61 44 0.42 exonic rs6668968 AQP10 AU nonsynonymous SNV NM_080429 exon1 c.G44A p.R15Q 0.273163 0.2093 0.284715 0.2921 0.2251 0.77 T 0.0 P -0.970 T 0.002 T 0.005 T Pathogenic 1_154294656_T->C 1 154294656 154294656 T C snp 3036.77 1/1 99 115 0 115 1.0 intronic rs1194607 AQP10 AU NM_080429 exon2 c.904+121T>C 0.577476 0.3591 Uncertain 1_154295592_C->T 1 154295592 154295592 C T snp 1259.77 0/1 99 127 74 53 0.42 exonic rs6685323 AQP10 AU nonsynonymous SNV NM_080429 exon3 c.C367T p.H123Y 0.293331 0.2103 0.299862 0.2972 0.2268 1 T 0.000 P -1.058 T 0.0 T 0.0 T Pathogenic 1_154296076_T->C 1 154296076 154296076 T C snp 1418.77 0/1 99 107 52 55 0.51 exonic rs1194610 AQP10 AU synonymous SNV NM_080429 exon5 c.T501C p.T167T 0.27516 0.1488 0.317546 0.2358 0.1569 Uncertain 1_154302826_C->T 1 154302826 154302826 C T snp 1477.77 0/1 99 122 55 67 0.55 intronic rs6691345 ATP8B2 AU NM_020452 exon3 c.2596-45C>T 0.16274 0.1329 0.153006 0.1391 0.1329 Uncertain 1_154303705_C->T 1 154303705 154303705 C T snp 537.77 0/1 99 29 13 16 0.55 intronic rs12727865 ATP8B2 AU NM_020452 exon5 c.3347+83C>T 0.291334 0.2103 Uncertain 1_154303976_T->C 1 154303976 154303976 T C snp 777.77 0/1 99 68 38 30 0.44 exonic rs6702754 ATP8B2 AU synonymous SNV NM_001005855 exon6 c.T360C p.N120N 0.291334 0.2103 0.299862 0.2966 0.2274 Uncertain 1_154305010_A->G 1 154305010 154305010 A G snp 595.77 1/1 45 16 0 16 1.0 intronic rs1209264 ATP8B2 AU NM_020452 exon9 c.4818-83A>G 0.894369 0.9692 Uncertain 1_154305190_G->C 1 154305190 154305190 G C snp 1429.77 0/1 99 125 59 66 0.53 intronic rs12077870 ATP8B2 AU NM_020452 exon9 c.4898+17G>C 0.291334 0.2103 0.295703 0.3567 0.3045 Uncertain 1_154310223_-->A 1 154310223 154310223 - A indel 1402.73 1/1 99 65 0 65 1.0 UTR3 rs11448687 ATP8B2 AU 0.310304 0.251 Uncertain 1_154317281_G->A 1 154317281 154317281 G A snp 268.77 0/1 99 23 11 12 0.52 intronic rs9660850 ATP8B2 AU NM_020452 exon21 c.16986+20G>A 0.137979 0.1161 0.137783 0.1626 0.1344 Uncertain 1_154318172_A->G 1 154318172 154318172 A G snp 994.77 0/1 99 68 31 37 0.54 intronic rs1979575 ATP8B2 AU NM_020452 exon24 c.18000-103A>G 0.138978 0.1161 Uncertain 1_154321072_A->G 1 154321072 154321072 A G snp 1671.77 1/1 99 50 0 50 1.0 intronic rs1194591 ATP8B2 AU NM_020452 exon27 c.20739+58A>G 0.940096 1 Uncertain 1_154401679_G->A 1 154401679 154401679 G A snp 2277.77 0/1 99 159 72 87 0.55 exonic rs2228144 IL6R AU synonymous SNV NM_000565 exon2 c.G93A p.A31A 0.117812 0.1042 0.129709 0.1410 0.1106 Uncertain 1_154401972_T->C 1 154401972 154401972 T C snp 3305.77 1/1 99 113 0 113 1.0 intronic rs6694817 IL6R AU NM_000565 exon2 c.23815+52T>C 0.569888 0.4345 0.619818 0.5713 0.5147 Uncertain 1_154407419_A->C 1 154407419 154407419 A C snp 149.77 0/1 99 12 6 6 0.5 intronic rs7518199 IL6R AU NM_000565 exon5 c.29360-46A>C 0.327476 0.3323 0.348161 0.3899 0.4037 Uncertain 1_154407713_T->C 1 154407713 154407713 T C snp 752.77 0/1 99 52 22 30 0.58 intronic rs7521458 IL6R AU NM_000565 exon5 c.29527+81T>C 0.30012 0.3442 Uncertain 1_154408340_T->C 1 154408340 154408340 T C snp 96.28 1/1 9 3 0 3 1.0 intronic rs4845371 IL6R AU NM_000565 exon6 c.30339-104T>C 0.567492 0.4296 Uncertain 1_154409893_-->T 1 154409893 154409893 - T indel 41.73 0/1 79 17 8 9 0.53 intronic rs71586015 IL6R AU NM_001206866 exon7 c.31805-17insT 0.291334 0.3304 0.4151 0.4057 Uncertain 1_154420402_G->C 1 154420402 154420402 G C snp 56.74 1/1 6 3 1 2 0.67 intronic rs7512646 IL6R AU NM_000565 exon7 c.42495-198G>C 0.454073 0.3204 Uncertain 1_154426947_T->A 1 154426947 154426947 T A snp 614.77 0/1 99 48 22 26 0.54 intronic rs4845374 IL6R AU NM_000565 exon9 c.48858-16T>A 0.177716 0.1042 0.175150 0.2550 0.1878 Uncertain 1_154426970_A->C 1 154426970 154426970 A C snp 522.77 0/1 99 53 28 25 0.47 exonic rs2228145 IL6R AU nonsynonymous SNV NM_000565 exon9 c.A1073C p.D358A 0.293131 0.3234 0.316854 0.3756 0.3938 0.35 T 1.000 P -0.977 T 0.123 T 0.02 T CLINSIG=other|other;CLNDBN=Serum_level_of_interleukin-6_soluble_receptor|Serum_level_of_interleukin_6;CLNREVSTAT=no_assertion_criteria_provided|no_assertion_criteria_provided;CLNACC=RCV000015767.1|RCV000029243.1;CLNDSDB=MedGen:OMIM|MedGen:OMIM;CLNDSDBID=C3553493:614689|C3540094:614752 ID=CM034737;DIS=Increased BMI, association with;TAG=DFP;PUB=14680981 DFP Pathogenic 1_154437896_T->C 1 154437896 154437896 T C snp 4516.77 1/1 99 150 0 150 1.0 UTR3 rs2229238 IL6R AU 0.796925 0.8065 0.803462 0.7975 0.8470 ID=CR034762;DIS=Increased BMI, association with;TAG=DP;PUB=14680981 DP Uncertain 1_154442960_G->A 1 154442960 154442960 G A snp 1276.77 0/1 99 98 45 53 0.54 intergenic rs11265621 IL6R AU 0.552915 0.7232 Uncertain 1_154458932_A->G 1 154458932 154458932 A G snp 348.78 1/1 27 11 0 11 1.0 intronic rs4845632 SHE AU NM_001010846 exon3 c.2378-70A>G 0.901158 1 Uncertain 1_154459197_C->G 1 154459197 154459197 C G snp 1258.77 1/1 93 41 0 41 1.0 intronic rs4845633 SHE AU NM_001010846 exon3 c.2535+38C>G 0.961062 1 0.958942 0.9889 1 Uncertain 1_154473726_G->A 1 154473726 154473726 G A snp 258.8 1/1 21 8 0 8 1.0 intronic rs6683078 SHE AU NM_001010846 exon6 c.17287-185G>A 0.898762 1 Uncertain 1_154473809_ACCTATCCTC->- 1 154473809 154473818 ACCTATCCTC - indel 4154.73 0/1 99 83 49 34 0.41 intronic SHE AU NM_001010846 exon6 c.17287-102_17287-93delACCTATCCTC Uncertain 1_154474131_C->G 1 154474131 154474131 C G snp 2436.77 0/1 99 190 89 101 0.53 exonic rs4845635 SHE AU synonymous SNV NM_001010846 exon1 c.G372C p.R124R 0.776957 0.9117 0.760458 0.8280 0.9128 Uncertain 1_154474557_T->C 1 154474557 154474557 T C snp 155.77 0/1 99 13 5 8 0.62 upstream rs6703672 SHE AU 0.778954 0.9117 Uncertain 1_154479657_-->AT 1 154479657 154479657 - AT indel 1430.73 1/1 81 27 0 27 1.0 intronic rs10654618 TDRD10 AU NM_001098475 exon3 c.337-59insAT 0.902157 1 0.904364 Uncertain 1_154479670_C->T 1 154479670 154479670 C T snp 282.77 0/1 99 33 21 12 0.36 intronic rs6664608 TDRD10 AU NM_001098475 exon3 c.337-46C>T 0.510383 0.7401 0.475370 0.5981 0.7750 Uncertain 1_154492702_G->A 1 154492702 154492702 G A snp 784.77 0/1 99 68 37 31 0.46 intronic rs10908842 TDRD10 AU NM_001098475 exon5 c.13400-77G>A 0.509585 0.7381 Uncertain 1_154493721_T->C 1 154493721 154493721 T C snp 1144.77 1/1 84 35 0 35 1.0 intronic rs6684225 TDRD10 AU NM_001098475 exon6 c.14419-77T>C 0.900759 1 Uncertain 1_154514331_C->A 1 154514331 154514331 C A snp 224.77 0/1 99 17 9 8 0.47 intronic rs4845647 TDRD10 AU NM_001098475 exon7 c.35120-168C>A 0.596645 0.7381 Uncertain 1_154514338_A->T 1 154514338 154514338 A T snp 255.77 0/1 99 18 9 9 0.5 intronic rs4845648 TDRD10 AU NM_001098475 exon7 c.35120-161A>T 0.116014 0.0903 Uncertain 1_154516571_T->C 1 154516571 154516571 T C snp 6516.77 1/1 99 233 0 233 1.0 exonic rs6678164 TDRD10 AU synonymous SNV NM_001098475 exon9 c.T636C p.A212A 0.900359 1 0.904813 0.9728 1 Uncertain 1_154523215_C->T 1 154523215 154523215 C T snp 542.77 1/1 42 15 0 15 1.0 intronic rs4520411 UBE2Q1 AU NM_017582 exon2 c.500-198C>T 0.91254 1 Uncertain 1_154523562_G->T 1 154523562 154523562 G T snp 330.77 0/1 99 24 13 11 0.46 intronic rs9427082 UBE2Q1 AU NM_017582 exon2 c.567+82G>T 0.119409 0.0982 Uncertain 1_154523588_T->G 1 154523588 154523588 T G snp 383.77 1/1 30 10 0 10 1.0 intronic rs10908849 UBE2Q1 AU NM_017582 exon2 c.567+108T>G 0.852037 0.999 Uncertain 1_154528053_G->A 1 154528053 154528053 G A snp 445.77 0/1 99 43 22 21 0.49 intronic rs56047170 UBE2Q1 AU NM_017582 exon11 c.5095+45G>A 0.179313 0.0982 0.192296 0.1577 0.1127 Uncertain 1_154528086_T->C 1 154528086 154528086 T C snp 871.77 1/1 63 27 0 27 1.0 intronic rs4078519 UBE2Q1 AU NM_017582 exon11 c.5095+78T>C 0.850439 1 Uncertain 1_154540468_C->T 1 154540468 154540468 C T snp 534.77 0/1 99 33 15 18 0.55 UTR5 rs2280781 CHRNB2 AU 0.114816 0.1161 Uncertain 1_154544651_G->T 1 154544651 154544651 G T snp 393.77 0/1 99 30 11 19 0.63 intronic rs4845378 CHRNB2 AU NM_000748 exon5 c.4117+14G>T 0.110024 0.128 0.054187 0.1282 0.1919 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000145708.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 1_154557685_C->T 1 154557685 154557685 C T snp 1253.77 0/1 99 85 43 42 0.49 intronic rs9427094 ADAR AR,AD NM_001025107 exon2 c.411-7C>T 0.388778 0.499 0.403199 0.4630 0.5374 Uncertain 1_154561261_G->C 1 154561261 154561261 G C snp 672.77 1/1 51 19 0 19 1.0 intronic rs9427095 ADAR AR,AD NM_001025107 exon6 c.3868+112G>C 0.911342 0.995 Uncertain 1_154562625_G->C 1 154562625 154562625 G C snp 1302.77 1/1 99 43 0 43 1.0 intronic rs7532276 ADAR AR,AD NM_001025107 exon9 c.5378-34G>C 0.461062 0.4177 0.5729 0.5559 Uncertain 1_154571174_-->GGA 1 154571174 154571174 - GGA indel 430.75 1/1 24 12 0 12 1.0 intronic rs111401592 ADAR AR,AD NM_001025107 exon13 c.13780+113insGGA 0.996006 1 Uncertain 1_154573967_T->C 1 154573967 154573967 T C snp 7463.77 1/1 99 250 1 249 1.0 exonic rs2229857 ADAR AR,AD nonsynonymous SNV NM_001111 exon2 c.A1151G p.K384R 0.622604 0.6687 0.607873 0.6956 0.7166 0.42 T 0.0 P -0.976 T 0.001 T 0.001 T ID=CM1412786;DIS=IFN gamma response to Rubella, association with;TAG=DP;PUB=25098560 DP Pathogenic 1_154574820_T->C 1 154574820 154574820 T C snp 5047.77 1/1 99 186 0 186 1.0 exonic rs1466731 ADAR AR,AD nonsynonymous SNV NM_001111 exon2 c.A298G p.R100G 0.996206 1 0.995694 0.9988 1 0.75 T 0.0 P -1.015 T 0.0 T 0.0 T Pathogenic 1_154575040_C->T 1 154575040 154575040 C T snp 1745.77 1/1 99 63 0 63 1.0 exonic rs1802645 ADAR AR,AD synonymous SNV NM_001111 exon2 c.G78A p.R26R 0.997005 1 0.997155 0.9992 1 Uncertain 1_154580458_C->A 1 154580458 154580458 C A snp 2846.77 0/1 99 243 122 121 0.5 intronic rs58655370 ADAR AR,AD NM_015840 exon15 c.23186-9C>A 0.304712 0.1369 0.279163 0.2584 0.1560 Uncertain 1_154600372_A->G 1 154600372 154600372 A G snp 2633.77 1/1 99 95 0 95 1.0 intergenic rs6426859 ADAR AR,AD 0.981629 1 0.983258 0.9954 1 0 D 0.0 P -0.979 T Uncertain 1_154709683_G->- 1 154709683 154709683 G - indel 901.73 1/1 96 36 0 36 1.0 intronic rs35539682 KCNN3 AU NM_001204087 exon6 c.29113+119delG 0.697484 0.7798 Uncertain 1_154744807_C->G 1 154744807 154744807 C G snp 4804.77 1/1 99 153 0 153 1.0 exonic rs1051614 KCNN3 AU synonymous SNV NM_002249 exon3 c.G1092C p.L364L 0.535343 0.5198 0.581578 0.5813 0.5098 Uncertain 1_154744852_A->G 1 154744852 154744852 A G snp 2506.77 1/1 99 87 0 87 1.0 exonic rs1131820 KCNN3 AU synonymous SNV NM_002249 exon3 c.T1047C p.N349N 0.779153 0.9831 0.705136 0.7616 0.9863 Uncertain 1_154744937_C->T 1 154744937 154744937 C T snp 95.77 0/1 99 16 12 4 0.25 intronic rs11589471 KCNN3 AU NM_002249 exon6 c.64418+68C>T 0.336661 0.3661 Uncertain 1_154832304_T->C 1 154832304 154832304 T C snp 1825.77 1/1 99 61 0 61 1.0 intronic rs4845397 KCNN3 AU NM_170782 exon8 c.151887-34T>C 0.717252 0.9841 Uncertain 1_154832322_A->C 1 154832322 154832322 A C snp 1357.77 1/1 99 41 0 41 1.0 intronic rs1218586 KCNN3 AU NM_170782 exon8 c.151887-16A>C 0.957867 1 Uncertain 1_154841413_AA->- 1 154841413 154841414 AA - indel 389.73 0/1 99 21 12 9 0.43 intronic rs67898630 KCNN3 AU NM_002249 exon8 c.161056-94_161056-93delAA Uncertain 1_154842199_-->GCTGCTGCT 1 154842199 154842199 - GCTGCTGCT indel 2074.73 1/1 65 50 0 50 1.0 exonic rs3831942 KCNN3 AU nonframeshift insertion NM_002249 exon1 c.241_242insAGCAGCAGC p.P81delinsQQQP 0.1054 0.0192 Uncertain 1_154897561_A->C 1 154897561 154897561 A C snp 52.77 0/1 81 40 26 14 0.35 UTR3 rs763078182 PMVK AD 0.0020 0 Uncertain 1_154909268_A->G 1 154909268 154909268 A G snp 331.77 0/1 99 18 8 10 0.56 UTR5 rs1109815 PMVK AD 0.653754 0.8929 Uncertain 1_154917701_A->G 1 154917701 154917701 A G snp 2493.77 1/1 99 96 0 96 1.0 intronic rs906594 PBXIP1 AU NM_020524 exon1 c.94+108A>G 0.979832 1 Uncertain 1_154919080_C->T 1 154919080 154919080 C T snp 1318.77 0/1 99 128 74 54 0.42 exonic rs2061690 PBXIP1 AU nonsynonymous SNV NM_020524 exon10 c.G1070A p.G357D 0.515974 0.8958 0.356220 0.4977 0.8854 0.61 T 0.0 P -0.965 T 0.087 T 0.063 T Pathogenic 1_154948327_G->T 1 154948327 154948327 G T snp 665.77 0/1 99 63 35 28 0.44 intronic rs12087657 CKS1B AU NM_001826 exon1 c.59+1047G>T 0.161941 0.0288 Uncertain 1_154950727_A->T 1 154950727 154950727 A T snp 401.77 0/1 99 38 21 17 0.45 intronic rs369038429 CKS1B AU NM_001826 exon2 c.3369+137A>T 0.00798722 0.002 Uncertain 1_154988957_A->G 1 154988957 154988957 A G snp 1499.77 0/1 99 132 72 60 0.45 exonic rs2242195 ZBTB7B AU synonymous SNV NM_001256455 exon3 c.A1416G p.P472P 0.673522 0.9127 0.541750 0.6192 0.8998 Uncertain 1_154995503_G->A 1 154995503 154995503 G A snp 47.77 0/1 31 4 1 3 0.75 intronic rs2242193 DCST2 AU NM_144622 exon2 c.4573-89G>A 0.61901 0.9058 Uncertain 1_155001929_T->C 1 155001929 155001929 T C snp 373.77 0/1 99 37 20 17 0.46 intronic rs10908452 DCST2 AU NM_144622 exon8 c.10854+56T>C 0.567093 0.879 Uncertain 1_155006001_G->A 1 155006001 155006001 G A snp 2111.77 0/1 99 179 89 90 0.5 exonic DCST2 AU synonymous SNV NM_144622 exon1 c.C177T p.T59T Uncertain 1_155006091_A->G 1 155006091 155006091 A G snp 2877.77 0/1 99 249 128 121 0.49 exonic rs10908453 DCST2 AU synonymous SNV NM_144622 exon1 c.T87C p.G29G 0.598842 0.881 0.410503 0.4681 0.8607 Uncertain 1_155006999_C->T 1 155006999 155006999 C T snp 2071.77 0/1 99 184 100 84 0.46 exonic rs6680600 DCST1 AU synonymous SNV NM_152494 exon3 c.C150T p.L50L 0.565695 0.8819 0.373597 0.4552 0.8613 Uncertain 1_155007293_C->T 1 155007293 155007293 C T snp 500.77 0/1 99 26 10 16 0.62 intronic rs4845404 DCST1 AU NM_152494 exon4 c.691+90C>T 0.565895 0.8819 Uncertain 1_155007302_C->A 1 155007302 155007302 C A snp 386.77 0/1 99 21 7 14 0.67 intronic rs4845405 DCST1 AU NM_152494 exon4 c.691+99C>A 0.566893 0.8819 Uncertain 1_155019710_A->C 1 155019710 155019710 A C snp 704.77 0/1 99 80 46 34 0.42 exonic rs11264300 DCST1 AU nonsynonymous SNV NM_152494 exon14 c.A1534C p.M512L 0.554513 0.8849 0.367676 0.4524 0.8688 0.89 T 0.148 P -1.017 T 0.016 T 0.022 T Pathogenic 1_155025361_T->C 1 155025361 155025361 T C snp 34.77 0/1 63 10 7 3 0.3 ncRNA_intronic rs2306125 LOC100505666 AU 0.379792 0.9048 Uncertain 1_155026942_A->C 1 155026942 155026942 A C snp 2766.77 1/1 99 97 0 97 1.0 exonic rs6427128 ADAM15 AU nonsynonymous SNV NM_001261464 exon6 c.A602C p.K201T 0.901957 0.9901 0.872290 0.8881 0.9919 0.61 T 0.0 P -1.055 T 0.0 T 0.001 T Pathogenic 1_155031376_C->T 1 155031376 155031376 C T snp 550.77 0/1 99 47 24 23 0.49 ncRNA_intronic rs12023499 LOC100505666 AU 0.451278 0.8661 Uncertain 1_155033317_T->C 1 155033317 155033317 T C snp 986.77 0/1 99 99 57 42 0.42 ncRNA_intronic rs11264304 LOC100505666 AU 0.696685 0.9276 0.638628 0.7060 0.9077 Uncertain 1_155033334_G->A 1 155033334 155033334 G A snp 1111.77 0/1 99 80 35 45 0.56 ncRNA_intronic rs12743272 LOC100505666 AU 0.0764776 0.0099 0.101722 0.1234 0.0172 Uncertain 1_155057499_A->G 1 155057499 155057499 A G snp 1148.77 0/1 99 99 49 50 0.51 intronic rs3766918 EFNA3 AU NM_004952 exon2 c.6149-67A>G 0.697883 0.9177 Uncertain 1_155105882_T->G 1 155105882 155105882 T G snp 1056.77 0/1 99 86 39 47 0.55 intronic rs4971066 EFNA1 AU NM_004428 exon3 c.5525-96T>G 0.323482 0.7768 Uncertain 1_155106054_A->G 1 155106054 155106054 A G snp 1812.77 0/1 99 156 76 80 0.51 intronic rs4390169 EFNA1 AU NM_004428 exon3 c.5591+10A>G 0.319688 0.1954 0.408581 0.4487 0.1997 Uncertain 1_155106227_A->T 1 155106227 155106227 A T snp 1471.77 0/1 99 165 102 63 0.38 exonic rs4745 EFNA1 AU nonsynonymous SNV NM_004428 exon4 c.A476T p.D159V 0.319888 0.1964 0.408504 0.4485 0.1961 0.32 T 0.994 P -0.901 T 0.0 T 0.0 T Pathogenic 1_155106550_A->G 1 155106550 155106550 A G snp 1060.77 0/1 99 110 62 48 0.44 UTR3 rs9297 EFNA1 AU 0.484225 0.8046 0.365216 0.4800 0.8019 Uncertain 1_155106697_G->A 1 155106697 155106697 G A snp 35.77 0/1 64 4 2 2 0.5 UTR3 rs12904 EFNA1 AU 0.488818 0.8046 ID=CR143971;DIS=Gastric cancer, reduced risk, association with;TAG=DFP;PUB=23065816 DFP Uncertain 1_155108287_G->A 1 155108287 155108287 G A snp 586.77 0/1 99 42 21 21 0.5 intronic rs11264333 SLC50A1 AU NM_001287590 exon1 c.9+131G>A 0.503594 0.8046 Uncertain 1_155108663_A->G 1 155108663 155108663 A G snp 31.77 0/1 60 26 22 4 0.15 intronic SLC50A1 AU NM_001287590 exon2 c.627-111A>G Uncertain 1_155108663_-->G 1 155108663 155108663 - G indel 767.73 1/1 69 26 0 26 1.0 intronic rs397731889 SLC50A1 AU NM_001287590 exon2 c.627-111insG 0.977636 1 Uncertain 1_155142210_A->G 1 155142210 155142210 A G snp 937.77 0/1 99 78 39 39 0.5 intronic rs4421576 KRTCAP2 AU NM_173852 exon2 c.351-56A>G 0.625599 0.7897 0.532852 Uncertain 1_155142229_G->A 1 155142229 155142229 G A snp 847.77 0/1 99 76 41 35 0.46 intronic rs4276914 KRTCAP2 AU NM_173852 exon2 c.351-37G>A 0.625399 0.7897 0.541256 0.5798 0.8034 Uncertain 1_155148781_G->A 1 155148781 155148781 G A snp 505.77 0/1 99 28 11 17 0.61 intronic rs4971059 TRIM46 AU NM_001256599 exon3 c.840+74G>A 0.429912 0.7599 Uncertain 1_155149718_G->A 1 155149718 155149718 G A snp 3104.77 0/1 99 248 121 127 0.51 exonic rs3814316 TRIM46 AU synonymous SNV NM_001282378 exon4 c.G483A p.T161T 0.445887 0.7629 0.327926 0.4216 0.7685 Uncertain 1_155162067_C->T 1 155162067 155162067 C T snp 1269.77 0/1 99 120 63 57 0.47 exonic rs4072037 MUC1 AD synonymous SNV NM_002456 exon2 c.G66A p.T22T 0.628794 0.7619 0.572351 0.5790 0.7838 Uncertain 1_155178782_A->T 1 155178782 155178782 A T snp 1252.77 0/1 99 81 32 49 0.6 exonic rs760077 MTX1 AU nonsynonymous SNV NM_002455 exon1 c.A187T p.T63S 0.666733 0.7738 0.629415 0.6688 0.8142 1 T 0.0 P -1.021 T 0.0 T 0.0 T ID=CM1111601;DIS=Parkinson disease, GBA-associated, modifier of;TAG=DP;PUB=21837367 DP Pathogenic 1_155181843_G->T 1 155181843 155181843 G T snp 650.77 0/1 99 37 12 25 0.68 intronic MTX1 AU NM_002455 exon4 c.3322-74G>T 0.621406 0.7609 Uncertain 1_155182164_C->T 1 155182164 155182164 C T snp 1393.77 0/1 99 147 86 61 0.41 intronic MTX1 AU NM_002455 exon5 c.3580-11C>T 0.622604 0.7609 0.552284 0.5578 0.7789 Uncertain 1_155184975_A->G 1 155184975 155184975 A G snp 2635.77 0/1 99 217 104 113 0.52 ncRNA_intronic GBAP1 AU 0.664537 0.7669 0.6369 0.7805 Uncertain 1_155186729_T->C 1 155186729 155186729 T C snp 949.77 0/1 99 71 34 37 0.52 ncRNA_exonic GBAP1 AU 0.623802 0.7629 0.5743 0.7851 0.01 T 1.000 N -1.084 T 0.008 T 0.016 T Uncertain 1_155186742_G->A 1 155186742 155186742 G A snp 839.77 0/1 99 63 27 36 0.57 ncRNA_exonic GBAP1 AU 0.444289 0.7411 0.4770 0.7585 1 T 0.997 P -0.971 T 0.011 T 0.002 T Uncertain 1_155202689_A->C 1 155202689 155202689 A C snp 563.77 0/1 99 30 11 19 0.63 intergenic GBAP1 AU 0.469649 0.6944 Uncertain 1_155203060_G->A 1 155203060 155203060 G A snp 922.77 0/1 99 85 43 42 0.49 intergenic GBAP1 AU 0.46865 0.6944 Uncertain 1_155205669_G->T 1 155205669 155205669 G T snp 4231.77 1/1 99 147 0 147 1.0 intronic GBA AR,AD,AO NM_001171811 exon3 c.850+34G>T 0.940895 0.999 0.9842 0.9994 Uncertain 1_155206341_T->G 1 155206341 155206341 T G snp 803.77 0/1 99 72 38 34 0.47 intronic GBA AR,AD,AO NM_001171811 exon4 c.1475+81T>G 0.467053 0.6964 Uncertain 1_155207549_T->C 1 155207549 155207549 T C snp 40.77 0/1 33 3 1 2 0.67 intronic GBA AR,AD,AO NM_001171811 exon5 c.2584+180T>C 0.467053 0.6964 Uncertain 1_155209360_C->T 1 155209360 155209360 C T snp 182.77 0/1 99 10 4 6 0.6 intronic GBA AR,AD,AO NM_001171811 exon8 c.4621-46C>T 0.490016 0.6984 0.402122 0.3663 0.7066 Uncertain 1_155217436_G->A 1 155217436 155217436 G A snp 231.77 0/1 99 22 10 12 0.55 UTR3 FAM189B AU 0.466853 0.7014 Uncertain 1_155217437_G->T 1 155217437 155217437 G T snp 184.77 0/1 99 22 10 12 0.55 UTR3 FAM189B AU 0.466653 0.7004 Uncertain 1_155217438_A->T 1 155217438 155217438 A T snp 208.77 0/1 99 22 10 12 0.55 UTR3 FAM189B AU 0.466853 0.7014 Uncertain 1_155217643_C->T 1 155217643 155217643 C T snp 655.77 0/1 99 51 26 25 0.49 exonic FAM189B AU nonsynonymous SNV NM_198264 exon9 c.G1649A p.R550H 0.00958466 0.0437 0.000234 0.0168 0.0976 0 D 0.608 N -0.966 T 1.0 D 0.997 D Pathogenic 1_155218168_T->C 1 155218168 155218168 T C snp 2548.77 0/1 99 198 93 105 0.53 intronic FAM189B AU NM_006589 exon3 c.623-27T>C 0.467053 0.7014 0.366369 0.3317 0.7108 Uncertain 1_155218365_T->C 1 155218365 155218365 T C snp 291.77 0/1 99 20 10 10 0.5 intronic FAM189B AU NM_006589 exon3 c.692+101T>C 0.370807 0.7014 Uncertain 1_155221837_C->A 1 155221837 155221837 C A snp 282.77 0/1 52 12 2 10 0.83 intronic rs2072647 FAM189B AU NM_001267608 exon7 c.4127+138C>A 0.465056 0.6935 Uncertain 1_155224091_C->A 1 155224091 155224091 C A snp 1202.77 0/1 99 90 42 48 0.53 intronic rs2075566 FAM189B AU NM_006589 exon11 c.6618-99C>A 0.468051 0.6974 Uncertain 1_155224301_C->A 1 155224301 155224301 C A snp 1067.77 0/1 99 88 45 43 0.49 intronic rs2242577 FAM189B AU NM_006589 exon11 c.6675+54C>A 0.46845 0.6974 0.358958 Uncertain 1_155294274_A->G 1 155294274 155294274 A G snp 1690.77 1/1 99 62 0 62 1.0 exonic rs914616 RUSC1 AU synonymous SNV NM_001105205 exon1 c.A66G p.L22L 0.948283 1 0.956815 0.9886 1 Uncertain 1_155294772_A->G 1 155294772 155294772 A G snp 3645.77 1/1 99 110 0 110 1.0 intronic rs4971075 RUSC1 AU NM_014328 exon2 c.49+38A>G 0.915335 0.999 0.931032 0.9774 0.9999 Uncertain 1_155313047_T->C 1 155313047 155313047 T C snp 1813.77 1/1 99 58 1 57 0.98 intronic rs4971051 ASH1L AU NM_018489 exon5 c.5654-57T>C 0.915735 0.999 Uncertain 1_155408635_T->C 1 155408635 155408635 T C snp 5831.77 1/1 99 206 0 206 1.0 exonic rs4971053 ASH1L AU nonsynonymous SNV NM_018489 exon5 c.A5311G p.T1771A 0.948682 1 0.952099 0.9869 1 0.09 T 1.000 P -0.875 T 0.0 T 0.0 T Pathogenic 1_155452063_G->A 1 155452063 155452063 G A snp 3648.77 0/1 99 250 101 149 0.6 exonic rs771535213 ASH1L AU nonsynonymous SNV NM_018489 exon3 c.C598T p.R200W 7.414e-05 0.0007 0.02 T 1 D -0.034 T 0.986 D 0.432 D Pathogenic 1_155532316_T->C 1 155532316 155532316 T C snp 1522.77 1/1 99 52 0 52 1.0 ncRNA_exonic rs12403379 ASH1L-AS1 AU 1 1 1 1 Uncertain 1_155532325_T->C 1 155532325 155532325 T C snp 1421.77 1/1 99 49 0 49 1.0 ncRNA_exonic rs12403380 ASH1L-AS1 AU 1 1 1 1 Uncertain 1_155532332_T->C 1 155532332 155532332 T C snp 1583.77 1/1 99 53 0 53 1.0 ncRNA_exonic rs34869594 ASH1L-AS1 AU 0.988818 1 0.9989 1 Uncertain 1_155532341_T->C 1 155532341 155532341 T C snp 1661.77 1/1 99 53 0 53 1.0 ncRNA_exonic rs61812107 ASH1L-AS1 AU 1 1 1 1 Uncertain 1_155581757_A->G 1 155581757 155581757 A G snp 165.84 1/1 18 9 0 9 1.0 ncRNA_intronic rs1200697 MSTO2P AU 0.8579 0.9829 Uncertain 1_155618416_T->- 1 155618416 155618416 T - indel 7608.73 1/1 99 199 0 199 1.0 intergenic rs397981621 MSTO1 AU 0.908546 1 Uncertain 1_155657660_T->G 1 155657660 155657660 T G snp 56.74 1/1 6 2 0 2 1.0 intronic rs552291822 YY1AP1 AU NM_139118 exon10 c.28414-201T>G 0.000199681 0.001 Uncertain 1_155686740_A->- 1 155686740 155686740 A - indel 87.73 0/1 99 29 16 13 0.45 intronic rs377724521 DAP3 AU NM_004632 exon3 c.7226-56delA Uncertain 1_155722506_C->G 1 155722506 155722506 C G snp 86.77 0/1 33 6 2 4 0.67 intronic rs12134456 GON4L AU NM_001282856 exon3 c.2007+125C>G 0.142971 0.004 Uncertain 1_155737385_C->T 1 155737385 155737385 C T snp 306.78 1/1 24 34 1 33 0.97 intronic rs849712 GON4L AU NM_001282856 exon13 c.16958+53C>T 0.927915 1 Uncertain 1_155746341_T->- 1 155746341 155746341 T - indel 187.75 1/1 24 11 0 11 1.0 intronic rs551984336 GON4L AU NM_001282856 exon17 c.25898+69delT 0.829673 0.9583 Uncertain 1_155754117_G->A 1 155754117 155754117 G A snp 171.9 1/1 15 5 0 5 1.0 intronic rs822020 GON4L AU NM_001282856 exon19 c.33506+237G>A 0.869209 1 Uncertain 1_155755097_G->A 1 155755097 155755097 G A snp 4341.77 1/1 99 155 1 154 0.99 intronic rs822021 GON4L AU NM_001282856 exon20 c.34750-27G>A 0.928514 1 0.923881 0.9792 1 Uncertain 1_155755239_T->C 1 155755239 155755239 T C snp 165.9 1/1 15 5 0 5 1.0 intronic rs822022 GON4L AU NM_001282856 exon20 c.34791+74T>C 0.86242 0.998 0.858519 Uncertain 1_155774599_T->C 1 155774599 155774599 T C snp 264.8 1/1 21 7 0 7 1.0 intronic rs822016 GON4L AU NM_001282856 exon22 c.54365-140T>C 0.868211 1 Uncertain 1_155775005_ATCTT->- 1 155775005 155775009 ATCTT - indel 818.73 0/1 99 17 6 11 0.65 intronic rs201226887 GON4L AU NM_001282856 exon22 c.54558+73_54558+77delATCTT 0.00119808 0.005 Uncertain 1_155784372_G->A 1 155784372 155784372 G A snp 723.77 1/1 54 18 0 18 1.0 intronic rs822013 GON4L AU NM_001282856 exon24 c.63866+132G>A 0.928115 1 Uncertain 1_155785579_AACT->- 1 155785579 155785582 AACT - indel 6384.73 1/1 99 95 0 95 1.0 intronic rs148569012 GON4L AU NM_001282856 exon25 c.65221-16_65221-13delAACT 0.86262 0.998 0.845712 0.9260 0.9987 Uncertain 1_155822971_C->T 1 155822971 155822971 C T snp 719.77 1/1 54 18 0 18 1.0 intronic rs822490 GON4L AU NM_001282856 exon31 c.102692-95C>T 0.447883 0.3056 Uncertain 1_155823002_T->C 1 155823002 155823002 T C snp 1685.77 1/1 99 46 0 46 1.0 intronic rs822491 GON4L AU NM_001282856 exon31 c.102692-64T>C 0.9998 1 Uncertain 1_155829360_C->A 1 155829360 155829360 C A snp 215.84 1/1 18 6 0 6 1.0 UTR5 rs1749412 SYT11 AU 0.927316 1 Uncertain 1_155837865_G->C 1 155837865 155837865 G C snp 3670.77 1/1 99 137 0 137 1.0 exonic rs822522 SYT11 AU nonsynonymous SNV NM_152280 exon2 c.G144C p.Q48H 0.954673 1 0.954790 0.9880 1 0.64 T 1.000 P -0.978 T 0.0 T 0.0 T Pathogenic 1_155838267_T->C 1 155838267 155838267 T C snp 6044.77 1/1 99 200 0 200 1.0 exonic rs822521 SYT11 AU synonymous SNV NM_152280 exon2 c.T546C p.H182H 0.93111 1 0.925342 0.9799 0.9998 Uncertain 1_155850558_T->C 1 155850558 155850558 T C snp 1645.77 1/1 99 48 0 48 1.0 intronic rs822508 SYT11 AU NM_152280 exon3 c.20862+144T>C 0.433906 0.1845 Uncertain 1_155850811_G->A 1 155850811 155850811 G A snp 129.03 1/1 12 4 0 4 1.0 intronic rs822509 SYT11 AU NM_152280 exon4 c.21436-177G>A 0.433906 0.1845 Uncertain 1_155870416_G->A 1 155870416 155870416 G A snp 3253.77 1/1 99 119 0 119 1.0 intronic rs1749409 RIT1 AD NM_001256820 exon1 c.231+7G>A 0.779752 0.9405 0.793403 0.8772 0.9361 CLINSIG=non-pathogenic;CLNDBN=Rasopathy;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000159097.1;CLNDSDB=MedGen;CLNDSDBID=CN166718 Uncertain 1_155880573_C->G 1 155880573 155880573 C G snp 4737.77 1/1 99 172 0 172 1.0 UTR5 rs493446 RIT1 AD 0.779952 0.9405 0.795248 0.8775 0.9354 0.49 T 0.000 P -1.065 T Uncertain 1_155880760_-->A 1 155880760 155880760 - A indel 495.73 1/1 36 12 0 12 1.0 intronic rs79437610 RIT1 AD NM_001256821 exon6 c.10528+54insA 0.754992 0.9405 Uncertain 1_155891045_A->C 1 155891045 155891045 A C snp 2301.77 1/1 99 72 0 72 1.0 intronic rs625658 KIAA0907 AU NM_014949 exon5 c.7254-120A>C 0.399561 0.1786 Uncertain 1_155891877_-->AG 1 155891877 155891877 - AG indel 829.73 1/1 54 21 0 21 1.0 intronic rs397777292 KIAA0907 AU NM_014949 exon6 c.7798+168insAG Uncertain 1_155899020_A->T 1 155899020 155899020 A T snp 4710.77 1/1 99 178 0 178 1.0 intronic rs539602 KIAA0907 AU NM_014949 exon11 c.15175-66A>T 0.398962 0.1786 Uncertain 1_155903310_T->C 1 155903310 155903310 T C snp 711.77 1/1 54 22 0 22 1.0 intronic rs4661150 KIAA0907 AU NM_014949 exon13 c.19512-113T>C 0.96266 1 Uncertain 1_155903408_C->T 1 155903408 155903408 C T snp 3466.77 1/1 99 132 1 131 0.99 intronic rs4661151 KIAA0907 AU NM_014949 exon13 c.19512-15C>T 0.398962 0.1786 0.511841 0.6024 0.2310 Uncertain 1_155904177_T->C 1 155904177 155904177 T C snp 7976.77 1/1 99 250 0 250 1.0 UTR5 rs2275079 KIAA0907 AU 0.779553 0.9395 0.793507 0.8771 0.9353 Uncertain 1_155904392_G->A 1 155904392 155904392 G A snp 707.77 1/1 54 19 0 19 1.0 upstream rs2275081 KIAA0907 AU 0.779752 0.9405 Uncertain 1_155912486_T->C 1 155912486 155912486 T C snp 6135.77 1/1 99 227 0 227 1.0 exonic rs2152051 RXFP4 AU nonsynonymous SNV NM_181885 exon1 c.T986C p.L329S 0.924121 0.999 0.937096 0.9797 0.9997 0.95 T 0.0 P -0.943 T 0.0 T 0.0 T Pathogenic 1_155917880_T->A 1 155917880 155917880 T A snp 6267.77 1/1 99 238 0 238 1.0 intronic rs1010033 ARHGEF2 AU NM_001162383 exon1 c.74+74T>A 0.773163 0.9405 Uncertain 1_155928232_T->C 1 155928232 155928232 T C snp 1028.77 1/1 75 33 0 33 1.0 intronic rs2364404 ARHGEF2 AU NM_001162383 exon11 c.10455+45T>C 0.773962 0.9405 0.787406 0.8758 0.9338 Uncertain 1_155928242_C->T 1 155928242 155928242 C T snp 809.77 1/1 60 27 0 27 1.0 intronic rs2886069 ARHGEF2 AU NM_001162383 exon11 c.10455+55C>T 0.780351 0.9405 0.807490 Uncertain 1_155931266_T->C 1 155931266 155931266 T C snp 141.03 1/1 12 4 0 4 1.0 intronic rs1964951 ARHGEF2 AU NM_001162383 exon12 c.13719-185T>C 0.865615 0.999 Uncertain 1_155931368_G->A 1 155931368 155931368 G A snp 1947.77 1/1 99 67 0 67 1.0 intronic rs4661175 ARHGEF2 AU NM_001162383 exon12 c.13719-83G>A 0.398562 0.1577 Uncertain 1_155955076_A->G 1 155955076 155955076 A G snp 1280.77 1/1 90 51 0 51 1.0 intergenic rs4661216 ARHGEF2 AU 1 1 1 1 Uncertain 1_155981489_C->G 1 155981489 155981489 C G snp 54.74 1/1 6 2 0 2 1.0 intronic rs1475766 SSR2 AU NM_003145 exon2 c.2270-111C>G 0.416933 0.1498 Uncertain 1_156011444_T->C 1 156011444 156011444 T C snp 2770.77 1/1 99 105 0 105 1.0 exonic rs2297792 UBQLN4 AU nonsynonymous SNV NM_001304342 exon10 c.A1425G p.I475M 0.433107 0.1438 0.553401 0.5802 0.1877 0.28 T 0.000 P -1.026 T 0.019 T 0.004 T Pathogenic 1_156107534_C->T 1 156107534 156107534 C T snp 427.77 0/1 99 32 14 18 0.56 exonic rs4641 LMNA AR,AD synonymous SNV NM_005572 exon10 c.C1698T p.H566H 0.220248 0.2738 0.197012 0.2655 0.3081 CLINSIG=non-pathogenic;CLNDBN=not_provided;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000057348.2;CLNDSDB=MedGen;CLNDSDBID=CN221809 ID=CM003892;DIS=Metabolic syndrome, association with;TAG=DP;PUB=15205219 DP Uncertain 1_156132910_CA->- 1 156132910 156132911 CA - indel 1350.73 0/1 99 79 42 37 0.47 intronic rs143862668 SEMA4A AR,AD NM_001193301 exon10 c.8516+25_8516+26delCA 0.123802 0.0149 0.196534 0.1766 0.0087 Uncertain 1_156146218_C->T 1 156146218 156146218 C T snp 1724.77 0/1 99 133 62 71 0.53 exonic rs12401573 SEMA4A AR,AD synonymous SNV NM_022367 exon15 c.C1716T p.P572P 0.430911 0.2321 0.531755 0.5272 0.2381 Uncertain 1_156169610_A->G 1 156169610 156169610 A G snp 936.77 0/1 99 52 23 29 0.56 intronic rs2072499 SLC25A44 AU 0.381989 0.1369 0.441642 0.3514 0.1573 Uncertain 1_156182710_T->C 1 156182710 156182710 T C snp 293.77 0/1 99 18 8 10 0.56 upstream;downstream rs2241107 PMF1 AU 0.381789 0.1379 Uncertain 1_156195205_C->T 1 156195205 156195205 C T snp 37.77 0/1 66 4 2 2 0.5 intronic rs2758600 PMF1 AU NM_001199654 exon2 c.12541-142C>T 0.245407 0.1369 Uncertain 1_156202173_A->G 1 156202173 156202173 A G snp 2421.77 1/1 99 94 0 94 1.0 exonic rs1052053 PMF1 AU nonsynonymous SNV NM_001199653 exon2 c.A224G p.Q75R 0.447284 0.3313 0.469399 0.3852 0.3437 1 T 0.0 P -0.942 T 0.0 T 0.0 T Pathogenic 1_156206121_G->A 1 156206121 156206121 G A snp 3665.77 1/1 99 126 0 126 1.0 exonic rs1052067 PMF1 AU nonsynonymous SNV NM_001199664 exon2 c.G204A p.M68I 0.19369 0.2073 0.236506 0.2344 0.1882 0.08 T 1.000 P -1.085 T 0.139 T 0.127 T Pathogenic 1_156247907_C->T 1 156247907 156247907 C T snp 430.77 1/1 33 13 0 13 1.0 intronic rs2248273 SMG5 AU NM_015327 exon20 c.27462+68C>T 0.234425 0.2599 Uncertain 1_156255833_G->C 1 156255833 156255833 G C snp 1590.77 1/1 99 44 0 44 1.0 intronic rs2842883 TMEM79 AU NM_032323 exon2 c.757+59G>C 0.978035 1 Uncertain 1_156279210_T->C 1 156279210 156279210 T C snp 1655.77 1/1 90 56 1 55 0.98 intronic rs3001784 CCT3 AU NM_005998 exon1 c.105+116T>C 1 1 Uncertain 1_156280297_ATAA->- 1 156280297 156280300 ATAA - indel 709.73 1/1 39 13 0 13 1.0 intronic rs67432426 CCT3 AU NM_005998 exon2 c.1359-51_1359-48delATAA 0.234625 0.2599 Uncertain 1_156287117_T->C 1 156287117 156287117 T C snp 1398.77 0/1 99 98 48 50 0.51 intronic rs146070631 CCT3 AU NM_005998 exon5 c.8049+79T>C 0.00159744 0.0079 Uncertain 1_156287360_C->T 1 156287360 156287360 C T snp 1076.77 1/1 78 39 0 39 1.0 intronic rs2249790 CCT3 AU NM_005998 exon6 c.8349+22C>T 0.235224 0.2619 0.252499 0.2557 0.2330 Uncertain 1_156303527_C->T 1 156303527 156303527 C T snp 841.77 1/1 63 26 0 26 1.0 intronic rs2764402 CCT3 AU NM_005998 exon10 c.24445+93C>T 0.184904 0.256 Uncertain 1_156348006_T->G 1 156348006 156348006 T G snp 132.77 0/1 99 76 53 23 0.3 intronic rs748210997 RHBG AU NM_020407 exon4 c.9002-36T>G 4.318e-05 0 Uncertain 1_156351699_G->A 1 156351699 156351699 G A snp 4422.77 1/1 99 155 0 155 1.0 exonic rs3748569 RHBG AU nonsynonymous SNV NM_020407 exon6 c.G943A p.G315R 0.544728 0.7014 0.458533 0.4800 0.7071 0.01 T 1.0 P -0.251 T 1.0 D 1.0 D Pathogenic 1_156351792_G->A 1 156351792 156351792 G A snp 3209.76 1/1 99 123 0 123 1.0 intronic rs3748568 RHBG AU NM_020407 exon6 c.12694+58G>A 0.536941 0.748 Uncertain 1_156352870_G->A 1 156352870 156352870 G A snp 54.74 1/1 6 2 0 2 1.0 intronic rs4618959 RHBG AU NM_020407 exon8 c.13620+210G>A 0.437899 0.5437 Uncertain 1_156354293_A->G 1 156354293 156354293 A G snp 5859.77 1/1 99 210 0 210 1.0 intronic rs6668731 RHBG AU NM_020407 exon9 c.15277-24A>G 0.423123 0.5446 0.341345 0.3200 0.5663 Uncertain 1_156354348_C->- 1 156354348 156354348 C - indel 5305.73 1/1 99 168 0 168 1.0 splicing rs11303415 RHBG AU NM_020407 exon10 c.15308delC 0.422923 0.5446 0.3226 0.5681 ID=COSM1334849,COSM111464,COSM1334848;OCCURENCE=1(ovary),2(large_intestine) Pathogenic 1_156354367_A->G 1 156354367 156354367 A G snp 4403.77 1/1 99 151 0 151 1.0 exonic rs6668857 RHBG AU nonsynonymous SNV NM_020407 exon10 c.A1283G p.H428R 0.733027 0.8978 0.633355 0.6122 0.9116 0 D 1.0 P -1.076 T Pathogenic 1_156374256_C->T 1 156374256 156374256 C T snp 891.77 0/1 99 61 27 34 0.56 UTR3 rs3431 C1orf61 AU 0.238818 0.3204 Uncertain 1_156376680_A->G 1 156376680 156376680 A G snp 176.9 1/1 15 6 0 6 1.0 intronic rs6662064 C1orf61 AU NM_006365 exon2 c.2526-191A>G 0.9998 1 Uncertain 1_156446242_C->A 1 156446242 156446242 C A snp 1748.77 1/1 99 65 0 65 1.0 intronic rs2274316 MEF2D AU NM_005920 exon5 c.8849-43C>A 0.571086 0.756 0.540289 0.6259 0.7210 Uncertain 1_156446450_C->T 1 156446450 156446450 C T snp 694.77 1/1 51 23 0 23 1.0 intronic rs12131289 MEF2D AU NM_005920 exon5 c.8870+144C>T 0.571486 0.756 Uncertain 1_156446903_T->C 1 156446903 156446903 T C snp 4059.77 1/1 99 143 0 143 1.0 exonic rs2274317 MEF2D AU synonymous SNV NM_001271629 exon7 c.A756G p.P252P 0.571685 0.756 0.541289 0.6213 0.7224 Uncertain 1_156450740_G->A 1 156450740 156450740 G A snp 1523.77 1/1 99 55 0 55 1.0 exonic rs1925950 MEF2D AU synonymous SNV NM_001271629 exon4 c.C282T p.N94N 0.572284 0.756 0.541455 0.6217 0.7215 Uncertain 1_156450873_T->C 1 156450873 156450873 T C snp 56.74 1/1 6 2 0 2 1.0 intronic rs2274319 MEF2D AU NM_001271629 exon8 c.13327+110T>C 0.651757 0.756 Uncertain 1_156452870_G->A 1 156452870 156452870 G A snp 2913.77 1/1 99 85 0 85 1.0 intronic rs2282286 MEF2D AU NM_001271629 exon10 c.15594-160G>A 0.571885 0.756 Uncertain 1_156453247_T->A 1 156453247 156453247 T A snp 215.84 1/1 18 6 0 6 1.0 intronic rs2274320 MEF2D AU NM_005920 exon11 c.15786+25T>A 0.572085 0.756 Uncertain 1_156496188_A->G 1 156496188 156496188 A G snp 1301.77 1/1 93 46 0 46 1.0 UTR3 rs6427315 IQGAP3 AU 0.938299 1 Uncertain 1_156498673_T->A 1 156498673 156498673 T A snp 1642.77 0/1 99 165 98 67 0.41 intronic rs1171564 IQGAP3 AU NM_178229 exon4 c.2430-34T>A 0.59984 0.5933 0.457174 0.4223 0.5654 Uncertain 1_156499969_T->C 1 156499969 156499969 T C snp 1692.77 0/1 99 179 106 73 0.41 exonic rs1171566 IQGAP3 AU synonymous SNV NM_178229 exon34 c.A4332G p.L1444L 0.605631 0.6022 0.462940 0.4576 0.5960 Uncertain 1_156500128_T->C 1 156500128 156500128 T C snp 119.77 0/1 99 21 16 5 0.24 intronic rs746505 IQGAP3 AU NM_178229 exon5 c.3832+19T>C 0.453674 0.5744 0.296171 0.3136 0.5615 Uncertain 1_156502991_A->G 1 156502991 156502991 A G snp 414.77 0/1 99 36 21 15 0.42 intronic rs1609666 IQGAP3 AU NM_178229 exon7 c.6621+93A>G 0.624401 0.6032 Uncertain 1_156503541_T->C 1 156503541 156503541 T C snp 388.77 1/1 30 12 0 12 1.0 intronic rs6699212 IQGAP3 AU NM_178229 exon8 c.7287-23T>C 0.98762 1 0.986314 0.9958 1 Uncertain 1_156504104_A->C 1 156504104 156504104 A C snp 77.77 0/1 30 4 1 3 0.75 intronic rs7552082 IQGAP3 AU NM_178229 exon9 c.7656+171A>C 0.607628 0.6022 Uncertain 1_156505061_C->T 1 156505061 156505061 C T snp 745.77 0/1 99 73 41 32 0.44 intronic rs942965 IQGAP3 AU NM_178229 exon11 c.8762+22C>T 0.366613 0.5655 0.213901 0.2726 0.5372 Uncertain 1_156509552_C->G 1 156509552 156509552 C G snp 1627.77 1/1 99 50 0 50 1.0 intronic rs1171570 IQGAP3 AU NM_178229 exon15 c.13352-77C>G 0.98762 1 Uncertain 1_156518379_G->A 1 156518379 156518379 G A snp 1211.77 0/1 99 114 63 51 0.45 exonic rs744224 IQGAP3 AU nonsynonymous SNV NM_178229 exon17 c.C1987T p.R663C 0.407149 0.5724 0.283408 0.3402 0.5532 0.1 T 0.0 P -0.947 T 0.003 T 0.0 T Pathogenic 1_156520173_T->A 1 156520173 156520173 T A snp 1398.77 1/1 99 60 0 60 1.0 intronic rs1778819 IQGAP3 AU NM_178229 exon23 c.23866+30T>A 0.988019 1 0.987314 0.9960 1 Uncertain 1_156520320_C->T 1 156520320 156520320 C T snp 113.78 0/1 25 6 1 5 0.83 intronic rs1778818 IQGAP3 AU NM_178229 exon23 c.23866+177C>T 0.359625 0.5169 Uncertain 1_156524221_G->T 1 156524221 156524221 G T snp 750.77 0/1 99 61 34 27 0.44 intronic rs6694580 IQGAP3 AU NM_178229 exon26 c.27907+37G>T 0.396166 0.5367 0.285791 0.3605 0.5128 Uncertain 1_156526234_C->T 1 156526234 156526234 C T snp 1815.77 1/1 99 56 0 56 1.0 intronic rs2489139 IQGAP3 AU NM_178229 exon27 c.30047-90C>T 0.960064 1 Uncertain 1_156526383_T->C 1 156526383 156526383 T C snp 1447.77 0/1 99 152 87 65 0.43 exonic IQGAP3 AU nonsynonymous SNV NM_178229 exon12 c.A1232G p.Y411C 0.15 T 0.997 D -1.127 T 0.994 D 0.819 D Pathogenic 1_156526387_C->G 1 156526387 156526387 C G snp 1421.77 0/1 99 152 90 62 0.41 exonic rs11264498 IQGAP3 AU nonsynonymous SNV NM_178229 exon12 c.G1228C p.V410L 0.378195 0.4286 0.502460 0.5376 0.4542 0.01 T 1.000 P -1.148 T 0.994 D 0.97 D Pathogenic 1_156526444_T->C 1 156526444 156526444 T C snp 2955.77 1/1 99 106 0 106 1.0 exonic rs2488269 IQGAP3 AU nonsynonymous SNV NM_178229 exon12 c.A1171G p.R391G 0.960064 1 0.957558 0.9878 1 1 T 0.055 P -0.935 T 0.0 T 0.0 T Pathogenic 1_156526564_C->A 1 156526564 156526564 C A snp 142.77 0/1 99 12 6 6 0.5 intronic rs2489138 IQGAP3 AU NM_178229 exon27 c.30208+79C>A 0.388978 0.5397 Uncertain 1_156531871_A->G 1 156531871 156531871 A G snp 2077.77 1/1 99 69 0 69 1.0 intronic rs1171545 IQGAP3 AU NM_178229 exon29 c.35516+78A>G 0.959864 1 Uncertain 1_156532250_T->C 1 156532250 156532250 T C snp 180.9 1/1 15 5 0 5 1.0 intronic rs1778828 IQGAP3 AU NM_178229 exon30 c.36101-128T>C 0.959864 1 Uncertain 1_156532252_C->T 1 156532252 156532252 C T snp 182.9 1/1 15 5 0 5 1.0 intronic rs1778827 IQGAP3 AU NM_178229 exon30 c.36101-126C>T 0.960064 1 Uncertain 1_156532344_T->G 1 156532344 156532344 T G snp 959.77 0/1 99 80 41 39 0.49 intronic rs7548309 IQGAP3 AU NM_178229 exon30 c.36101-34T>G 0.571286 0.4633 0.684530 0.6430 0.4909 Uncertain 1_156532733_T->C 1 156532733 156532733 T C snp 37.77 0/1 66 6 4 2 0.33 intronic rs4661183 IQGAP3 AU NM_178229 exon31 c.36648-192T>C 0.386781 0.4286 Uncertain 1_156532908_C->A 1 156532908 156532908 C A snp 1590.77 0/1 99 170 98 72 0.42 intronic rs16837492 IQGAP3 AU NM_178229 exon31 c.36648-17C>A 0.558107 0.4603 0.674381 0.6482 0.4866 Uncertain 1_156532977_T->C 1 156532977 156532977 T C snp 4948.77 1/1 99 178 0 178 1.0 exonic rs1171547 IQGAP3 AU synonymous SNV NM_178229 exon8 c.A747G p.Q249Q 0.959864 1 0.957481 0.9878 1 Uncertain 1_156534525_A->C 1 156534525 156534525 A C snp 260.77 0/1 99 20 10 10 0.5 intronic rs4661184 IQGAP3 AU NM_178229 exon34 c.38206+42A>C 0.501997 0.4504 0.620098 0.6154 0.4712 Uncertain 1_156534539_G->A 1 156534539 156534539 G A snp 213.77 0/1 99 18 9 9 0.5 intronic rs4661185 IQGAP3 AU NM_178229 exon34 c.38206+56G>A 0.557308 0.4554 0.680245 Uncertain 1_156536123_T->C 1 156536123 156536123 T C snp 720.77 1/1 54 21 0 21 1.0 intronic rs2066378 IQGAP3 AU NM_178229 exon36 c.39904-58T>C 0.959864 1 Uncertain 1_156536133_A->G 1 156536133 156536133 A G snp 936.77 1/1 69 29 0 29 1.0 intronic rs4382715 IQGAP3 AU NM_178229 exon36 c.39904-48A>G 0.959864 1 0.957404 0.9876 1 Uncertain 1_156536221_G->C 1 156536221 156536221 G C snp 2764.77 1/1 99 99 0 99 1.0 exonic rs2066377 IQGAP3 AU synonymous SNV NM_178229 exon3 c.C243G p.P81P 0.959864 1 0.957481 0.9878 1 Uncertain 1_156536251_T->C 1 156536251 156536251 T C snp 3368.77 1/1 99 122 0 122 1.0 exonic rs947662 IQGAP3 AU synonymous SNV NM_178229 exon3 c.A213G p.L71L 0.959864 1 0.957481 0.9878 1 Uncertain 1_156536353_A->G 1 156536353 156536353 A G snp 2931.77 1/1 99 106 0 106 1.0 intronic rs947663 IQGAP3 AU NM_178229 exon36 c.40061+15A>G 0.959864 1 0.957558 0.9879 1 Uncertain 1_156536480_T->C 1 156536480 156536480 T C snp 814.77 1/1 60 26 0 26 1.0 intronic rs947664 IQGAP3 AU NM_178229 exon36 c.40061+142T>C 0.959864 1 Uncertain 1_156539154_T->C 1 156539154 156539154 T C snp 1302.77 1/1 93 46 0 46 1.0 intronic rs6427319 IQGAP3 AU NM_178229 exon37 c.42890-13T>C 0.990815 1 0.989159 0.9954 0.9996 Uncertain 1_156552720_T->G 1 156552720 156552720 T G snp 54.74 1/1 6 2 0 2 1.0 intronic rs6688600 TTC24 AU NM_001105669 exon4 c.1677-113T>G 0.909545 0.9692 Uncertain 1_156553103_G->- 1 156553103 156553103 G - indel 966.73 0/1 99 64 35 29 0.45 intronic rs34924172 TTC24 AU NM_001105669 exon5 c.1973-26delG 0.317492 0.4583 0.196265 0.2858 0.4358 Uncertain 1_156553762_A->C 1 156553762 156553762 A C snp 624.77 1/1 48 17 0 17 1.0 intronic rs11264502 TTC24 AU NM_001105669 exon6 c.2531+75A>C 0.909545 0.9692 Uncertain 1_156555200_G->A 1 156555200 156555200 G A snp 258.8 1/1 21 7 0 7 1.0 intronic rs10796960 TTC24 AU NM_001105669 exon8 c.3867+177G>A 0.991214 1 Uncertain 1_156556321_G->A 1 156556321 156556321 G A snp 2602.77 1/1 99 97 0 97 1.0 exonic rs10796961 TTC24 AU synonymous SNV NM_001105669 exon11 c.G1728A p.S576S 0.767971 0.9692 0.796491 0.9156 0.9737 1.000 P -0.989 T Likely benign 1_156561157_C->T 1 156561157 156561157 C T snp 1111.77 0/1 99 88 37 51 0.58 upstream rs117354680 APOA1BP AU 0.00998403 0.0437 Uncertain 1_156561414_T->C 1 156561414 156561414 T C snp 50.74 1/1 6 2 0 2 1.0 upstream rs6698493 APOA1BP AU 0.928315 0.9722 Uncertain 1_156561557_-->GGGCCGGGCC 1 156561557 156561557 - GGGCCGGGCC indel 4496.73 ./1 99 41 0 41 1.0 upstream rs149629319 APOA1BP AU 0.475 0.1923 Uncertain 1_156561557_-->GGGTCGGGCC 1 156561557 156561557 - GGGTCGGGCC indel 4496.73 ./1 99 41 0 41 1.0 upstream rs149629319 APOA1BP AU 0.4857 0.8077 Uncertain 1_156561651_G->C 1 156561651 156561651 G C snp 3509.77 1/1 99 115 0 115 1.0 exonic rs7516274 APOA1BP AU nonsynonymous SNV NM_144772 exon1 c.G55C p.V19L 0.928714 0.9722 0.947721 0.9575 0.9742 1 T 0.0 P -0.944 T 0.0 T 0.0 T Pathogenic 1_156562008_G->A 1 156562008 156562008 G A snp 1463.77 1/1 99 44 0 44 1.0 intronic rs1925949 APOA1BP AU NM_144772 exon2 c.405+7G>A 0.928514 0.9722 0.931647 0.9552 0.9745 Uncertain 1_156562143_G->A 1 156562143 156562143 G A snp 127.03 1/1 12 5 0 5 1.0 intronic rs942959 APOA1BP AU NM_144772 exon3 c.560-13G>A 0.928514 0.9722 0.931801 0.9551 0.9745 Uncertain 1_156563375_G->A 1 156563375 156563375 G A snp 3956.77 1/1 99 141 0 141 1.0 intronic rs6427321 APOA1BP AU NM_144772 exon5 c.1751+28G>A 0.928514 0.9722 0.931801 0.9552 0.9744 0.0 P -1.084 T 0.994 D 0.941 D Uncertain 1_156563726_A->C 1 156563726 156563726 A C snp 2891.77 1/1 99 109 0 109 1.0 exonic rs6427322 APOA1BP AU synonymous SNV NM_144772 exon6 c.A717C p.I239I 0.928514 0.9722 0.931801 0.9551 0.9745 0.64 T 1.0 P -1.006 T 0.0 T 0.0 T Likely benign 1_156563813_G->A 1 156563813 156563813 G A snp 2402.77 1/1 99 85 0 85 1.0 exonic rs6668178 APOA1BP AU synonymous SNV NM_144772 exon6 c.G804A p.E268E 0.928514 0.9722 0.931801 0.9552 0.9745 0.03 T 1.000 P -1.094 T 0.0 T 0.0 T Likely benign 1_156563852_C->T 1 156563852 156563852 C T snp 1568.77 1/1 99 49 0 49 1.0 exonic rs942963 APOA1BP AU synonymous SNV NM_144772 exon6 c.C843T p.T281T 0.928514 0.9722 0.931801 0.9551 0.9745 Uncertain 1_156563898_T->C 1 156563898 156563898 T C snp 556.77 1/1 42 14 0 14 1.0 UTR3 rs1270 APOA1BP AU 0.928514 0.9722 0.929648 0.9551 0.9744 Uncertain 1_156564640_G->A 1 156564640 156564640 G A snp 736.77 0/1 99 46 21 25 0.54 UTR3 rs3795732 GPATCH4 AU 0.523562 0.5169 Uncertain 1_156564922_C->T 1 156564922 156564922 C T snp 2654.77 0/1 99 191 92 99 0.52 UTR3 rs3795733 GPATCH4 AU 0.435503 0.4911 0.6206 0.5296 0.01 T 0.257 P -0.998 T Uncertain 1_156565049_-->AC 1 156565049 156565049 - AC indel 10497.7 1/1 99 204 0 204 1.0 exonic rs10637036 GPATCH4 AU frameshift insertion NM_015590 exon8 c.1083_1084insGT p.F362fs 0.994209 1 0.995528 0.9983 1 Pathogenic 1_156565834_G->C 1 156565834 156565834 G C snp 791.77 0/1 99 64 34 30 0.47 intronic rs12024215 GPATCH4 AU NM_015590 exon2 c.868-38G>C 0.317492 0.4544 0.199985 0.2818 0.4273 Uncertain 1_156567496_C->T 1 156567496 156567496 C T snp 263.77 0/1 99 22 11 11 0.5 intronic rs879461 GPATCH4 AU NM_015590 exon4 c.2822-330C>T 0.520567 0.5169 Uncertain 1_156594364_T->C 1 156594364 156594364 T C snp 992.77 0/1 99 106 64 42 0.4 intronic rs12405992 HAPLN2 AU NM_021817 exon6 c.1110-28T>C 0.292931 0.377 0.197287 0.2886 0.3627 Uncertain 1_156594656_C->A 1 156594656 156594656 C A snp 214.77 0/1 99 22 13 9 0.41 intronic rs12567958 HAPLN2 AU NM_021817 exon6 c.1293+81C>A 0.465256 0.5556 Uncertain 1_156617968_G->A 1 156617968 156617968 G A snp 615.77 1/1 45 20 0 20 1.0 intronic rs2277873 BCAN AU NM_198427 exon5 c.2056+66G>A 0.359425 0.3482 Uncertain 1_156618768_T->G 1 156618768 156618768 T G snp 1126.77 1/1 84 33 0 33 1.0 intronic rs4661209 BCAN AU NM_198427 exon6 c.2807+115T>G 0.610423 0.4038 Uncertain 1_156622252_G->A 1 156622252 156622252 G A snp 2591.77 1/1 99 86 0 86 1.0 exonic rs1056695 BCAN AU nonsynonymous SNV NM_021948 exon8 c.G1510A p.E504K 0.374201 0.3532 0.338953 0.3953 0.3521 0.48 T 0.009 P -0.975 T 0.228 T 0.083 T Pathogenic 1_156626358_C->A 1 156626358 156626358 C A snp 375.77 1/1 30 14 0 14 1.0 intronic rs6700323 BCAN AU NM_021948 exon9 c.10335+177C>A 0.580072 0.3948 Uncertain 1_156626789_T->C 1 156626789 156626789 T C snp 2422.77 0/1 99 231 131 100 0.43 exonic rs140303758 BCAN AU nonsynonymous SNV NM_021948 exon10 c.T2110C p.S704P 0.000998403 0.005 0.000231 0.0005 0.0050 0.34 T 0.999 N -0.952 T 0.062 T 0.017 T ID=COSM1235840;OCCURENCE=2(haematopoietic_and_lymphoid_tissue) Pathogenic 1_156626920_T->C 1 156626920 156626920 T C snp 7269.77 1/1 99 242 0 242 1.0 intronic rs7524611 BCAN AU NM_021948 exon10 c.11042+32T>C 1 1 0.9999 1 Uncertain 1_156627996_T->C 1 156627996 156627996 T C snp 2917.77 0/1 99 236 118 118 0.5 exonic rs2298135 BCAN AU synonymous SNV NM_021948 exon12 c.T2370C p.H790H 0.146765 0.2937 0.033446 0.0899 0.2652 Uncertain 1_156628252_G->A 1 156628252 156628252 G A snp 155.77 0/1 63 8 2 6 0.75 intronic rs2298133 BCAN AU NM_021948 exon13 c.12488-82G>A 0.141573 0.2817 Uncertain 1_156628717_C->A 1 156628717 156628717 C A snp 1845.77 1/1 99 57 0 57 1.0 intronic rs951964 BCAN AU NM_021948 exon14 c.12972-101C>A 0.473442 0.3968 Uncertain 1_156629037_A->G 1 156629037 156629037 A G snp 266.8 1/1 21 9 0 9 1.0 UTR3 rs11360 BCAN AU 0.543331 0.4077 Uncertain 1_156639000_A->G 1 156639000 156639000 A G snp 295.77 0/1 99 23 11 12 0.52 UTR3 rs1046650 NES AU 0.226837 0.2946 Uncertain 1_156639636_G->A 1 156639636 156639636 G A snp 2800.77 0/1 99 228 115 113 0.5 exonic rs11549292 NES AU synonymous SNV NM_006617 exon4 c.C4344T p.A1448A 0.224042 0.2946 0.211538 0.2603 0.2690 Uncertain 1_156639753_G->A 1 156639753 156639753 G A snp 2508.77 0/1 99 241 124 117 0.49 exonic rs11582300 NES AU synonymous SNV NM_006617 exon4 c.C4227T p.S1409S 0.618411 0.8611 0.544776 0.6230 0.8493 Uncertain 1_156640156_G->A 1 156640156 156640156 G A snp 2224.77 0/1 99 170 67 103 0.61 exonic rs3748570 NES AU nonsynonymous SNV NM_006617 exon4 c.C3824T p.P1275L 0.724441 0.87 0.659849 0.6745 0.8565 1 T 0.000 P -1.028 T 0.0 T 0.0 T Pathogenic 1_156640308_C->T 1 156640308 156640308 C T snp 2313.77 0/1 99 229 120 109 0.48 exonic rs3748571 NES AU synonymous SNV NM_006617 exon4 c.G3672A p.T1224T 0.224241 0.2946 0.210134 0.2631 0.2684 Uncertain 1_156640503_C->T 1 156640503 156640503 C T snp 1936.77 0/1 99 162 80 82 0.51 exonic rs3828043 NES AU synonymous SNV NM_006617 exon4 c.G3477A p.G1159G 0.223842 0.2946 0.210441 0.2583 0.2687 Uncertain 1_156640678_G->A 1 156640678 156640678 G A snp 1405.77 0/1 99 118 64 54 0.46 exonic rs2886443 NES AU nonsynonymous SNV NM_006617 exon4 c.C3302T p.P1101L 0.622204 0.8621 0.558878 0.6389 0.8475 0.85 T 0.0 P -0.989 T 0.001 T 0.0 T Pathogenic 1_156641537_C->T 1 156641537 156641537 C T snp 2079.77 0/1 99 183 94 89 0.49 exonic rs951781 NES AU nonsynonymous SNV NM_006617 exon4 c.G2443A p.V815I 0.204273 0.12 0.265339 0.3053 0.1374 0.18 T 0.0 P -0.860 T 0.026 T 0.001 T Pathogenic 1_156644919_C->T 1 156644919 156644919 C T snp 1636.77 0/1 99 145 75 70 0.48 intronic rs74695162 NES AU NM_006617 exon3 c.5894-88C>T 0.00858626 0.0407 Uncertain 1_156646668_A->G 1 156646668 156646668 A G snp 1670.77 1/1 99 60 0 60 1.0 exonic rs4278369 NES AU nonsynonymous SNV NM_006617 exon1 c.T389C p.V130A 0.998403 1 0.998122 0.9996 0.9997 0.86 T 0.000 P -1.065 T 0.0 T 0.0 T Pathogenic 1_156670545_C->T 1 156670545 156670545 C T snp 686.77 1/1 51 20 0 20 1.0 intronic rs4661213 CRABP2 AU NM_001878 exon2 c.633+95C>T 0.913139 1 Uncertain 1_156705593_G->C 1 156705593 156705593 G C snp 4947.77 1/1 99 186 0 186 1.0 exonic rs4311877 RRNAD1 AU nonsynonymous SNV NM_001142560 exon6 c.G713C p.R238P 0.971046 1 0.972628 0.9922 1 0.21 T 0.000 P -0.948 T 0.0 T 0.0 T Pathogenic 1_156706559_A->C 1 156706559 156706559 A C snp 674.77 ./1 99 24 0 24 1.0 UTR3 rs8658 RRNAD1 AU 0.320887 0.6865 0.283946 0.3200 0.6861 Uncertain 1_156706559_A->G 1 156706559 156706559 A G snp 674.77 ./1 99 24 0 24 1.0 UTR3 rs8658 RRNAD1 AU 0.638179 0.3135 0.716054 0.6687 0.3139 Uncertain 1_156707697_G->A 1 156707697 156707697 G A snp 32.77 0/1 61 5 3 2 0.4 intronic rs11581044 MRPL24 AU NM_024540 exon3 c.633-125G>A 0.316094 0.6855 Uncertain 1_156707775_T->G 1 156707775 156707775 T G snp 2173.77 1/1 99 67 0 67 1.0 intronic rs6670122 MRPL24 AU NM_024540 exon3 c.633-47T>G 0.961661 1 0.965477 0.9901 1 Uncertain 1_156713512_C->T 1 156713512 156713512 C T snp 1554.77 1/1 99 58 0 58 1.0 exonic rs4437869 HDGF AU synonymous SNV NM_001126050 exon5 c.G696A p.E232E 0.962061 1 0.965247 0.9896 1 Uncertain 1_156713558_G->A 1 156713558 156713558 G A snp 783.77 0/1 99 49 21 28 0.57 exonic rs4399146 HDGF AU nonsynonymous SNV NM_001126050 exon5 c.C650T p.P217L 0.192093 0.125 0.266416 0.2854 0.1115 0.07 T 0.609 P -1.040 T 0.001 T 0.001 T Pathogenic 1_156721032_T->A 1 156721032 156721032 T A snp 297.77 0/1 99 17 8 9 0.53 intronic rs12030654 HDGF AU NM_004494 exon6 c.7894-102T>A 0.188299 0.125 Uncertain 1_156752048_C->G 1 156752048 156752048 C G snp 1117.77 0/1 99 101 54 47 0.47 intronic rs2274503 PRCC AU NM_005973 exon2 c.14510-25C>G 0.645767 0.8145 0.625711 0.6717 0.8332 Uncertain 1_156752232_T->- 1 156752232 156752232 T - indel 144.73 0/1 60 8 2 6 0.75 intronic rs367770256 PRCC AU NM_005973 exon2 c.14558+111delT 0.645767 0.8145 Uncertain 1_156760887_C->A 1 156760887 156760887 C A snp 2310.77 0/1 99 174 77 97 0.56 intronic rs11264554 PRCC AU NM_005973 exon4 c.23925-601C>A 0.348442 0.7282 0.319498 0.4084 0.7406 0.02 T 0.0 P -1.024 T Uncertain 1_156761618_C->T 1 156761618 156761618 C T snp 1610.77 0/1 99 122 53 69 0.57 intronic rs2644615 PRCC AU NM_005973 exon4 c.24021+34C>T 0.155551 0.122 0.204829 0.2164 0.1069 Uncertain 1_156777248_T->C 1 156777248 156777248 T C snp 350.77 0/1 99 41 25 16 0.39 intronic rs3765782 SH2D2A AU NM_001161441 exon2 c.168+111T>C 0.00199681 0.0099 Uncertain 1_156784982_T->C 1 156784982 156784982 T C snp 512.77 0/1 99 46 22 24 0.52 exonic rs926103 SH2D2A AU nonsynonymous SNV NM_001161443 exon2 c.A71G p.N24S 0.59365 0.8155 0.552899 0.6612 0.8311 0.92 T 0.0 P -1.042 T 0.0 T 0.0 T Pathogenic 1_156785617_G->A 1 156785617 156785617 G A snp 2405.77 0/1 99 194 88 106 0.55 intronic rs1800601 SH2D2A AU NM_001161441 exon8 c.8828-180G>A 0.636981 0.8135 0.617715 0.6674 0.8218 Uncertain 1_156785763_G->- 1 156785763 156785763 G - indel 2840.73 0/1 99 163 84 79 0.48 intronic rs11325907 SH2D2A AU NM_001161441 exon8 c.8828-34delG 0.580871 0.8125 0.536895 0.6215 0.8126 Uncertain 1_156785771_A->G 1 156785771 156785771 A G snp 1794.77 0/1 99 151 76 75 0.5 intronic rs7546838 SH2D2A AU NM_001161441 exon8 c.8828-26A>G 0.616014 0.8125 0.576196 0.6336 0.8129 Uncertain 1_156785779_G->A 1 156785779 156785779 G A snp 1741.77 0/1 99 146 75 71 0.49 intronic rs1800600 SH2D2A AU NM_001161441 exon8 c.8828-18G>A 0.662939 0.8135 0.640397 0.6705 0.8141 Uncertain 1_156814478_G->A 1 156814478 156814478 G A snp 1032.77 0/1 99 93 49 44 0.47 intronic rs41267423 INSRR AU NM_014215 exon10 c.3834-20G>A 0.154752 0.1657 0.155159 0.1524 0.1578 Uncertain 1_156821268_T->C 1 156821268 156821268 T C snp 1090.77 0/1 99 71 29 42 0.59 intronic INSRR AU NM_014215 exon18 c.10562+42T>C Uncertain 1_156838141_T->C 1 156838141 156838141 T C snp 93.28 1/1 9 3 0 3 1.0 intronic rs1800879 NTRK1 AR,AD NM_001007792 exon6 c.52420+100T>C 0.711661 0.9554 Uncertain 1_156841259_A->C 1 156841259 156841259 A C snp 133.03 1/1 12 4 0 4 1.0 intronic rs2644614 NTRK1 AR,AD NM_001007792 exon8 c.55793-155A>C 0.977835 1 Uncertain 1_156845805_C->- 1 156845805 156845805 C - indel 1929.73 0/1 99 113 62 51 0.45 intronic NTRK1 AR,AD NM_001007792 exon13 c.60250-66delC Uncertain 1_156846120_C->T 1 156846120 156846120 C T snp 314.77 0/1 99 24 11 13 0.54 intronic rs1800880 NTRK1 AR,AD NM_001007792 exon14 c.60570-71C>T 0.231829 0.5407 Uncertain 1_156846233_G->A 1 156846233 156846233 G A snp 928.77 0/1 99 105 62 43 0.41 exonic rs6334 NTRK1 AR,AD synonymous SNV NM_001012331 exon13 c.G1656A p.Q552Q 0.212859 0.3204 0.193603 0.2203 0.3553 Uncertain 1_156848808_T->C 1 156848808 156848808 T C snp 311.78 1/1 24 10 0 10 1.0 intronic rs2768757 NTRK1 AR,AD NM_001007792 exon15 c.63292-105T>C 0.628594 0.3522 Uncertain 1_156873727_G->A 1 156873727 156873727 G A snp 3864.77 1/1 99 150 0 150 1.0 exonic rs12407843 PEAR1 AU synonymous SNV NM_001080471 exon2 c.G9A p.P3P 0.194489 0.3442 0.123943 0.1516 0.3831 Uncertain 1_156875037_T->G 1 156875037 156875037 T G snp 608.77 1/1 45 19 0 19 1.0 intronic rs6676171 PEAR1 AU NM_001080471 exon4 c.1397-78T>G 0.563498 0.7966 Uncertain 1_156875377_G->C 1 156875377 156875377 G C snp 209.84 1/1 18 7 0 7 1.0 intronic rs2644591 PEAR1 AU NM_001080471 exon4 c.1498+161G>C 0.910144 0.998 Uncertain 1_156875935_T->C 1 156875935 156875935 T C snp 1296.77 1/1 96 39 0 39 1.0 intronic rs41267435 PEAR1 AU NM_001080471 exon5 c.2349-132T>C 0.254193 0.3641 Uncertain 1_156875985_G->A 1 156875985 156875985 G A snp 2238.77 1/1 99 77 0 77 1.0 intronic rs2644593 PEAR1 AU NM_001080471 exon5 c.2349-82G>A 0.972644 1 Uncertain 1_156876206_G->A 1 156876206 156876206 G A snp 1696.77 1/1 99 59 0 59 1.0 intronic rs6688345 PEAR1 AU NM_001080471 exon5 c.2442+46G>A 0.252995 0.3641 0.190835 0.1709 0.3996 Uncertain 1_156876221_G->A 1 156876221 156876221 G A snp 1562.77 1/1 99 47 0 47 1.0 intronic rs6688349 PEAR1 AU NM_001080471 exon5 c.2442+61G>A 0.252796 0.3641 Uncertain 1_156876237_C->T 1 156876237 156876237 C T snp 1311.77 1/1 96 36 0 36 1.0 intronic rs6664765 PEAR1 AU NM_001080471 exon5 c.2442+77C>T 0.253195 0.3641 Uncertain 1_156876260_C->T 1 156876260 156876260 C T snp 784.77 1/1 60 21 0 21 1.0 intronic rs6664770 PEAR1 AU NM_001080471 exon5 c.2442+100C>T 0.252995 0.3631 Uncertain 1_156876373_A->G 1 156876373 156876373 A G snp 1175.77 1/1 87 32 0 32 1.0 intronic rs6677442 PEAR1 AU NM_001080471 exon6 c.2710-55A>G 0.258586 0.3681 Uncertain 1_156876729_T->C 1 156876729 156876729 T C snp 4089.77 1/1 99 147 0 147 1.0 intronic rs735953 PEAR1 AU NM_001080471 exon6 c.2954+57T>C 0.254393 0.3641 Uncertain 1_156877249_A->G 1 156877249 156877249 A G snp 1671.77 1/1 99 53 0 53 1.0 intronic rs6680819 PEAR1 AU NM_001080471 exon7 c.3683-152A>G 0.231629 0.369 Uncertain 1_156877457_T->C 1 156877457 156877457 T C snp 4979.77 1/1 99 185 0 185 1.0 exonic rs1952294 PEAR1 AU nonsynonymous SNV NM_001080471 exon7 c.T700C p.S234P 0.975839 1 0.976780 0.9936 1 1 T 0.000 P -0.972 T 0.0 T 0.0 T Pathogenic 1_156877797_C->A 1 156877797 156877797 C A snp 6068.77 1/1 99 225 0 225 1.0 exonic rs77235035 PEAR1 AU synonymous SNV NM_001080471 exon8 c.C856A p.R286R 0.227636 0.3502 0.156284 0.2354 0.4418 Uncertain 1_156877884_-->G 1 156877884 156877884 - G indel 4628.73 1/1 99 137 0 137 1.0 intronic rs150532135 PEAR1 AU NM_001080471 exon9 c.4201-35insG 0.20607 0.3492 0.133745 0.2254 0.4381 Uncertain 1_156878420_G->A 1 156878420 156878420 G A snp 34.77 0/1 63 8 6 2 0.25 intronic rs4661076 PEAR1 AU NM_001080471 exon10 c.4728-26G>A 0.171725 0.4415 0.006494 0.1947 0.5111 Uncertain 1_156878421_C->T 1 156878421 156878421 C T snp 34.77 0/1 63 8 6 2 0.25 intronic rs4661011 PEAR1 AU NM_001080471 exon10 c.4728-25C>T 0.171526 0.4415 0.006775 0.1974 0.5106 Uncertain 1_156878435_C->T 1 156878435 156878435 C T snp 229.77 0/1 99 12 4 8 0.67 intronic rs11800463 PEAR1 AU NM_001080471 exon10 c.4728-11C>T 0.223243 0.3135 0.126656 0.2479 0.3831 Uncertain 1_156878531_T->C 1 156878531 156878531 T C snp 522.77 0/1 99 40 21 19 0.47 exonic rs11264580 PEAR1 AU synonymous SNV NM_001080471 exon10 c.T1200C p.H400H 0.223243 0.3135 0.159151 0.2749 0.4612 Uncertain 1_156878737_T->C 1 156878737 156878737 T C snp 2980.77 0/1 99 250 127 123 0.49 exonic rs6671392 PEAR1 AU synonymous SNV NM_001080471 exon11 c.T1320C p.P440P 0.223442 0.3145 0.169076 0.1714 0.3431 Uncertain 1_156878887_G->A 1 156878887 156878887 G A snp 1729.77 0/1 99 109 45 64 0.59 intronic rs11810027 PEAR1 AU NM_001080471 exon11 c.5110+59G>A 0.204073 0.3135 Uncertain 1_156879395_C->T 1 156879395 156879395 C T snp 438.77 0/1 99 39 20 19 0.49 intronic rs72698693 PEAR1 AU NM_001080471 exon12 c.5824-147C>T 0.224042 0.3175 Uncertain 1_156879504_A->G 1 156879504 156879504 A G snp 2291.77 0/1 99 198 96 102 0.52 intronic rs41273205 PEAR1 AU NM_001080471 exon12 c.5824-38A>G 0.207268 0.3145 0.154083 0.1466 0.3405 Uncertain 1_156879580_C->T 1 156879580 156879580 C T snp 2040.77 0/1 99 180 95 85 0.47 exonic rs3737224 PEAR1 AU synonymous SNV NM_001080471 exon12 c.C1449T p.P483P 0.176717 0.3145 0.121329 0.1364 0.3433 Uncertain 1_156881959_C->T 1 156881959 156881959 C T snp 214.77 0/1 99 15 8 7 0.47 intronic rs41273215 PEAR1 AU NM_001080471 exon16 c.8320-79C>T 0.172724 0.3145 Uncertain 1_156882261_C->T 1 156882261 156882261 C T snp 1884.77 0/1 99 142 67 75 0.53 intronic rs57731889 PEAR1 AU NM_001080471 exon17 c.8567-24C>T 0.253994 0.4732 0.093265 0.1596 0.4608 Uncertain 1_156883493_G->A 1 156883493 156883493 G A snp 1889.77 1/1 99 60 0 60 1.0 exonic rs11264581 PEAR1 AU nonsynonymous SNV NM_001080471 exon21 c.G2654A p.R885H 0.231829 0.4732 0.143780 0.2186 0.4611 0.55 T 0.0 P -1.004 T 0.004 T 0.001 T Pathogenic 1_156883546_A->G 1 156883546 156883546 A G snp 3362.77 1/1 99 123 0 123 1.0 exonic rs12137505 PEAR1 AU nonsynonymous SNV NM_001080471 exon21 c.A2707G p.N903D 0.451078 0.5913 0.354913 0.4337 0.5871 0.36 T 0.0 P -0.991 T 0.094 T 0.016 T Pathogenic 1_156884365_T->C 1 156884365 156884365 T C snp 2338.77 1/1 99 68 0 68 1.0 intronic rs749256 PEAR1 AU NM_001080471 exon23 c.10720-73T>C 0.910343 1 Uncertain 1_156894006_C->G 1 156894006 156894006 C G snp 354.78 1/1 27 11 0 11 1.0 intronic rs822438 LRRC71 AU NM_144702 exon2 c.3295+116C>G 0.763379 0.8512 Uncertain 1_156902259_G->A 1 156902259 156902259 G A snp 1801.77 1/1 99 62 0 62 1.0 exonic rs822430 LRRC71 AU synonymous SNV NM_144702 exon14 c.G1485A p.T495T 0.754792 0.8492 0.640352 0.6262 0.8664 Uncertain 1_156907081_T->C 1 156907081 156907081 T C snp 1820.77 1/1 99 73 0 73 1.0 exonic rs945508 ARHGEF11 AU nonsynonymous SNV NM_014784 exon38 c.A4280G p.H1427R 0.76238 0.8512 0.650315 0.6393 0.8678 1 T 0.000 P -1.030 T 0.0 T 0.001 T ID=CM074015;DIS=Diabetes, type 2, association with;TAG=DP;PUB=17369523 DP Pathogenic 1_156907115_T->C 1 156907115 156907115 T C snp 1980.77 1/1 99 77 0 77 1.0 exonic rs868188 ARHGEF11 AU nonsynonymous SNV NM_014784 exon38 c.A4246G p.S1416G 0.40655 0.5169 0.311702 0.3943 0.4909 0.04 T 0.075 P -1.091 T 0.003 T 0.009 T ID=CM061640;DIS=Lung cancer, reduced risk in Mexican Americans, association with;TAG=DP;PUB=16691626 DP Pathogenic 1_156914241_CATT->- 1 156914241 156914244 CATT - indel 1754.73 1/1 93 53 0 53 1.0 intronic rs398053432 ARHGEF11 AU NM_014784 exon11 c.8434+16_8434+19delCATT 0.480431 0.501 0.4102 0.4596 Uncertain 1_156939175_C->T 1 156939175 156939175 C T snp 237.84 1/1 18 12 0 12 1.0 intronic rs1336149 ARHGEF11 AU NM_014784 exon32 c.33359+25C>T 0.715256 0.8353 0.582052 0.6345 0.8611 Uncertain 1_156948957_CCT->- 1 156948957 156948959 CCT - indel 2253.73 1/1 99 39 0 39 1.0 intronic rs3831270 ARHGEF11 AU NM_014784 exon36 c.43229-63_43229-61delCCT 0.234026 0.4534 0.157084 Uncertain 1_156954267_C->T 1 156954267 156954267 C T snp 1871.77 1/1 99 70 0 70 1.0 intronic rs6427339 ARHGEF11 AU NM_014784 exon38 c.48438+38C>T 0.591853 0.7798 0.487442 0.4908 0.7972 Uncertain 1_156954384_T->C 1 156954384 156954384 T C snp 347.78 1/1 27 9 0 9 1.0 intronic rs6427340 ARHGEF11 AU NM_014784 exon38 c.48438+155T>C 0.549321 0.7808 Uncertain 1_156956057_T->C 1 156956057 156956057 T C snp 410.77 1/1 33 11 0 11 1.0 intronic rs3737599 ARHGEF11 AU NM_014784 exon39 c.50174+92T>C 0.23742 0.4563 Uncertain 1_157095470_A->G 1 157095470 157095470 A G snp 3663.77 0/1 99 250 119 131 0.52 exonic rs2231856 ETV3 AU synonymous SNV NM_001145312 exon5 c.T702C p.F234F 0.242013 0.5565 0.074463 0.1827 0.5418 Uncertain 1_157485275_T->G 1 157485275 157485275 T G snp 223.77 0/1 99 18 9 9 0.5 UTR3 rs3811036 FCRL5 AU 0.213059 0.1409 Uncertain 1_157485561_G->A 1 157485561 157485561 G A snp 627.77 0/1 99 48 22 26 0.54 intronic rs3811035 FCRL5 AU NM_031281 exon1 c.90+7G>A 0.504792 0.6558 0.481547 0.6255 0.6558 Uncertain 1_157485720_T->C 1 157485720 157485720 T C snp 104.28 1/1 9 5 0 5 1.0 intronic rs1002967 FCRL5 AU NM_031281 exon2 c.199+57T>C 0.967452 1 0.965834 Uncertain 1_157488085_C->A 1 157488085 157488085 C A snp 211.77 0/1 99 20 12 8 0.4 intronic rs1571967 FCRL5 AU NM_031281 exon3 c.2754-133C>A 0.16873 0.0883 Uncertain 1_157488435_G->A 1 157488435 157488435 G A snp 937.77 0/1 99 72 34 38 0.53 intronic rs74799115 FCRL5 AU NM_031281 exon4 c.3025-54G>A 0.0355431 0.0893 0.007227 Uncertain 1_157488487_C->T 1 157488487 157488487 C T snp 1194.77 0/1 99 76 27 49 0.64 splicing rs6663265 FCRL5 AU NM_031281 exon4 c.3025-2C>T 0.16873 0.0893 0.145779 0.0613 0.0944 Pathogenic 1_157488760_C->A 1 157488760 157488760 C A snp 166.77 0/1 63 9 2 7 0.78 intronic rs12122119 FCRL5 AU NM_031281 exon4 c.3108+188C>A 0.16873 0.0893 Uncertain 1_157488773_G->A 1 157488773 157488773 G A snp 127.78 0/1 27 6 1 5 0.83 intronic rs12144232 FCRL5 AU NM_031281 exon4 c.3108+201G>A 0.16873 0.0893 Uncertain 1_157488810_T->A 1 157488810 157488810 T A snp 56.74 1/1 6 2 0 2 1.0 intronic rs12141689 FCRL5 AU NM_031281 exon4 c.3108+238T>A 0.16873 0.0893 Uncertain 1_157489488_T->C 1 157489488 157489488 T C snp 528.77 0/1 99 55 29 26 0.47 intronic rs3811032 FCRL5 AU NM_031281 exon5 c.4068-44T>C 0.061901 0.0893 0.030755 0.0268 0.0927 Uncertain 1_157489535_G->A 1 157489535 157489535 G A snp 584.77 0/1 99 59 32 27 0.46 exonic rs3827757 FCRL5 AU synonymous SNV NM_001195388 exon13 c.C2658T p.A886A 0.143371 0.0893 0.114409 0.0508 0.0929 Uncertain 1_157491173_T->A 1 157491173 157491173 T A snp 530.77 0/1 99 38 17 21 0.55 intronic rs6427383 FCRL5 AU NM_031281 exon7 c.5618+91T>A 0.665535 0.7847 Uncertain 1_157494106_C->T 1 157494106 157494106 C T snp 2123.77 0/1 99 202 109 93 0.46 exonic rs34273689 FCRL5 AU synonymous SNV NM_001195388 exon10 c.G2202A p.E734E 0.126198 0.0893 0.096571 0.0457 0.0944 Uncertain 1_157494358_A->- 1 157494358 157494358 A - indel 2534.73 0/1 99 136 52 84 0.62 intronic rs113588617 FCRL5 AU NM_031281 exon8 c.8883+11delA 0.126198 0.0893 0.097444 0.0466 0.0949 Uncertain 1_157494415_T->G 1 157494415 157494415 T G snp 1092.77 0/1 99 75 33 42 0.56 intronic rs73011532 FCRL5 AU NM_031281 exon8 c.8883+68T>G 0.102037 0.0893 Uncertain 1_157497263_T->C 1 157497263 157497263 T C snp 4733.77 1/1 99 146 0 146 1.0 intronic rs3761961 FCRL5 AU NM_031281 exon9 c.11942-143T>C 0.842252 0.8839 Uncertain 1_157504143_G->A 1 157504143 157504143 G A snp 585.77 0/1 99 44 18 26 0.59 intronic rs73011564 FCRL5 AU NM_031281 exon10 c.18939-260G>A 0.1252 0.0893 0.0517 0.1154 Uncertain 1_157504422_C->T 1 157504422 157504422 C T snp 691.77 0/1 99 79 47 32 0.41 exonic rs73011567 FCRL5 AU nonsynonymous SNV NM_001195388 exon8 c.G1663A p.V555M 0.1252 0.0893 0.095110 0.0455 0.0946 0.14 T 0.0 P -0.941 T 0.973 D 0.843 D Pathogenic 1_157504433_C->G 1 157504433 157504433 C G snp 681.77 0/1 99 73 44 29 0.4 exonic rs73011568 FCRL5 AU nonsynonymous SNV NM_001195388 exon8 c.G1652C p.R551P 0.125399 0.0893 0.095033 0.0455 0.0945 0.28 T 0.001 P -1.119 T 1.0 D 0.995 D Pathogenic 1_157508882_C->T 1 157508882 157508882 C T snp 441.77 0/1 99 25 10 15 0.6 exonic rs6427384 FCRL5 AU nonsynonymous SNV NM_001195388 exon7 c.G1396A p.V466I 0.693291 0.7887 0.699216 0.8142 0.7772 0.28 T 0.000 P -0.965 T 0.718 T 0.242 P Pathogenic 1_157509025_C->T 1 157509025 157509025 C T snp 4590.77 1/1 99 181 0 181 1.0 exonic rs2012199 FCRL5 AU nonsynonymous SNV NM_001195388 exon7 c.G1253A p.G418D 0.841054 0.878 0.824389 0.8667 0.8716 1 T 0.0 P -0.931 T 0.01 T 0.018 T Pathogenic 1_157514097_A->G 1 157514097 157514097 A G snp 1247.77 0/1 99 119 65 54 0.45 exonic rs6679793 FCRL5 AU nonsynonymous SNV NM_001195388 exon5 c.T799C p.Y267H 0.707268 0.9067 0.698062 0.7814 0.9030 0.4 T 0.0 P -0.949 T 0.001 T 0.004 T Pathogenic 1_157545231_G->T 1 157545231 157545231 G T snp 77.77 0/1 99 8 5 3 0.38 UTR3 rs849827 FCRL4 AU 0.440895 0.245 Uncertain 1_157548669_T->A 1 157548669 157548669 T A snp 264.77 0/1 99 18 8 10 0.56 intronic rs1885561 FCRL4 AU NM_031282 exon4 c.3329+27T>A 0.440895 0.245 0.480240 0.3678 0.2456 Uncertain 1_157550066_T->C 1 157550066 157550066 T C snp 2498.77 0/1 99 250 141 109 0.44 intronic rs10489673 FCRL4 AU NM_031282 exon5 c.4797-44T>C 0.382588 0.619 0.285176 0.4194 0.6140 Uncertain 1_157557701_G->A 1 157557701 157557701 G A snp 1801.77 1/1 99 57 0 57 1.0 exonic rs2777962 FCRL4 AU synonymous SNV NM_031282 exon4 c.C516T p.D172D 0.498403 0.6806 0.410734 0.4813 0.6894 Uncertain 1_157565970_A->G 1 157565970 157565970 A G snp 139.03 1/1 12 4 0 4 1.0 intronic rs1885560 FCRL4 AU NM_031282 exon11 c.20804-147A>G 0.795727 0.9008 Uncertain 1_157567751_A->G 1 157567751 157567751 A G snp 2320.77 1/1 99 79 0 79 1.0 UTR5 rs1361889 FCRL4 AU 0.796126 0.9008 0.736968 0.7766 0.9032 Uncertain 1_157651032_T->A 1 157651032 157651032 T A snp 108.77 0/1 97 8 3 5 0.63 intronic rs7546300 FCRL3 AU NM_052939 exon4 c.2390+143T>A 0.27496 0.2599 Uncertain 1_157668390_T->C 1 157668390 157668390 T C snp 1807.77 0/1 99 172 89 83 0.48 exonic rs7522061 FCRL3 AU nonsynonymous SNV NM_052939 exon4 c.A82G p.N28D 0.470647 0.4345 0.519914 0.4503 0.4048 0.66 T 0.0 P -0.983 T 0.0 T 0.002 T Pathogenic 1_157668427_G->A 1 157668427 157668427 G A snp 1413.77 0/1 99 124 62 62 0.5 intronic rs12140725 FCRL3 AU NM_052939 exon12 c.19920+8G>A 0.141374 0.1954 0.163002 0.1841 0.1744 Uncertain 1_157669668_G->A 1 157669668 157669668 G A snp 356.77 0/1 99 36 20 16 0.44 intronic rs10489678 FCRL3 AU NM_052939 exon13 c.21003+166G>A 0.185304 0.1954 Uncertain 1_157670290_C->G 1 157670290 157670290 C G snp 715.77 0/1 99 81 47 34 0.42 UTR5 rs945635 FCRL3 AU 0.543331 0.4355 0.577964 0.4540 0.4024 ID=CR067134;DIS=Graves' disease, association with;TAG=DP;PUB=16384851 DP Uncertain 1_157718283_A->T 1 157718283 157718283 A T snp 1981.77 1/1 99 58 0 58 1.0 intronic rs6696643 FCRL2 AU NM_030764 exon3 c.1817-59A>T 0.944888 1 0.869251 Uncertain 1_157737504_G->A 1 157737504 157737504 G A snp 227.84 1/1 18 7 0 7 1.0 intronic rs2873413 FCRL2 AU NM_030764 exon7 c.20774+205G>A 0.595048 0.4772 Uncertain 1_157740187_TC->- 1 157740187 157740188 TC - indel 3963.73 1/1 99 86 0 86 1.0 intronic rs10540465 FCRL2 AU NM_030764 exon10 c.23673-11_23673-10delTC 0.558906 0.4772 0.4844 0.4524 Uncertain 1_157740189_A->G 1 157740189 157740189 A G snp 2469.77 1/1 99 80 1 79 0.99 intronic rs57139984 FCRL2 AU NM_030764 exon10 c.23673-9A>G 0.558906 0.4772 0.4838 0.4526 Uncertain 1_157744142_A->T 1 157744142 157744142 A T snp 1339.77 1/1 96 46 0 46 1.0 intronic rs6700883 FCRL2 AU NM_030764 exon11 c.29039-1422A>T 0.173123 0.1845 Uncertain 1_157767519_C->T 1 157767519 157767519 C T snp 514.77 0/1 99 26 9 17 0.65 intronic rs41273453 FCRL1 AU NM_001159397 exon3 c.1598-29C>T 0.0225639 0.052343 0.0697 0 Uncertain 1_157768000_G->C 1 157768000 157768000 G C snp 2076.77 1/1 99 72 0 72 1.0 exonic rs3811024 FCRL1 AU synonymous SNV NM_001159397 exon7 c.C948G p.T316T 0.23123 0.1855 0.267492 0.2317 0.1689 Uncertain 1_157963363_CGGGCTCC->- 1 157963363 157963370 CGGGCTCC - indel 2674.73 0/1 99 55 27 28 0.51 UTR5 rs148023130 KIRREL AU 0.477636 0.6042 Uncertain 1_158047657_G->A 1 158047657 158047657 G A snp 194.77 0/1 99 17 9 8 0.47 intronic rs12133744 KIRREL AU NM_018240 exon3 c.84314-123G>A 0.0393371 Uncertain 1_158056299_C->G 1 158056299 158056299 C G snp 1518.77 1/1 99 49 0 49 1.0 intronic rs7367384 KIRREL AU NM_001286349 exon3 c.92919-86C>G 0.42492 0.7609 Uncertain 1_158057420_A->T 1 158057420 158057420 A T snp 1288.77 1/1 93 40 0 40 1.0 intronic rs7514301 KIRREL AU NM_001286349 exon4 c.94078-124A>T 0.480631 0.6954 Uncertain 1_158058109_C->A 1 158058109 158058109 C A snp 2674.77 1/1 99 94 1 93 0.99 intronic rs6427419 KIRREL AU NM_001286349 exon6 c.94650-7C>A 0.452476 0.6974 0.383900 0.5241 0.6847 Uncertain 1_158066834_A->G 1 158066834 158066834 A G snp 2364.77 1/1 99 87 0 87 1.0 UTR3 rs6427420 KIRREL AU 0.502995 0.6954 0.5295 0.6214 Uncertain 1_158067047_A->C 1 158067047 158067047 A C snp 240.77 0/1 60 12 3 9 0.75 UTR3 rs874844 KIRREL AU 0.454073 0.6954 Uncertain 1_158067061_G->- 1 158067061 158067061 G - indel 169.73 0/1 51 9 2 7 0.78 UTR3 rs11339854 KIRREL AU 0.502396 0.6954 Uncertain 1_158146946_T->C 1 158146946 158146946 T C snp 1142.77 0/1 99 106 60 46 0.43 intergenic rs3021477 LOC646268 AU 0.727636 0.8482 Uncertain 1_158153996_T->C 1 158153996 158153996 T C snp 1732.77 1/1 99 52 0 52 1.0 UTR3 rs426336 CD1D AU 0.99361 1 0.994744 Uncertain 1_158224576_TGTGTGTG->- 1 158224576 158224583 TGTGTGTG - indel 5801.73 ./1 99 177 4 173 0.98 intronic rs533766475 CD1A AU NM_001763 exon1 c.58+59_58+66delTGTGTGTG Uncertain 1_158224576_TGTGTGTGTG->- 1 158224576 158224585 TGTGTGTGTG - indel 5801.73 ./1 99 177 4 173 0.98 intronic rs370074413 CD1A AU NM_001763 exon1 c.58+59_58+68delTGTGTGTGTG Uncertain 1_158224825_C->T 1 158224825 158224825 C T snp 435.77 0/1 99 41 22 19 0.46 intronic rs411089 CD1A AU NM_001763 exon2 c.414-48C>T 0.542732 0.6607 0.409657 0.3938 0.6358 Uncertain 1_158226466_A->- 1 158226466 158226466 A - indel 176.73 0/1 70 17 5 12 0.71 intronic rs34315183 CD1A AU NM_001763 exon4 c.2116-109delA 0.487021 0.4544 Uncertain 1_158324425_A->G 1 158324425 158324425 A G snp 1865.77 0/1 99 157 78 79 0.5 exonic rs1065457 CD1E AU nonsynonymous SNV NM_030893 exon2 c.A317G p.Q106R 0.616414 0.6617 0.482269 0.4501 0.6609 1 T 0.0 P -1.017 T 0.0 T 0.001 T ID=CM067657;DIS=Guillain-Barre syndrome, reduced risk, association with;TAG=DP;PUB=16820217 DP Pathogenic 1_158368309_T->G 1 158368309 158368309 T G snp 272.77 0/1 99 31 19 12 0.39 downstream rs10489826 OR10T2 AU 0.107827 0.1369 0.079914 0.2371 0.2844 Uncertain 1_158368541_A->G 1 158368541 158368541 A G snp 1314.77 0/1 99 104 51 53 0.51 exonic rs34465440 OR10T2 AU nonsynonymous SNV NM_001004475 exon1 c.T716C p.V239A 0.365216 0.2262 0.338690 0.3398 0.2283 0.28 T 0.000 P -1.215 T 0.0 T 0.0 T Pathogenic 1_158368846_T->C 1 158368846 158368846 T C snp 1518.77 0/1 99 172 106 66 0.38 exonic rs6662382 OR10T2 AU nonsynonymous SNV NM_001004475 exon1 c.A411G p.I137M 0.365216 0.2262 0.338767 0.3399 0.2289 1 T 0.000 P -0.915 T 0.0 T 0.0 T Pathogenic 1_158368964_C->T 1 158368964 158368964 C T snp 1170.77 0/1 99 98 50 48 0.49 exonic rs61818749 OR10T2 AU nonsynonymous SNV NM_001004475 exon1 c.G293A p.C98Y 0.102037 0.1369 0.073889 0.1002 0.1266 0 D 1.000 P -1.118 T 1.0 D 0.999 D Pathogenic 1_158368974_A->G 1 158368974 158368974 A G snp 1158.77 0/1 99 91 48 43 0.47 exonic rs61818750 OR10T2 AU nonsynonymous SNV NM_001004475 exon1 c.T283C p.F95L 0.108626 0.1369 0.084499 0.1030 0.1269 0.31 T 0.0 P -0.826 T 0.092 T 0.05 T Pathogenic 1_158369064_A->G 1 158369064 158369064 A G snp 805.77 0/1 99 78 47 31 0.4 exonic rs41488350 OR10T2 AU nonsynonymous SNV NM_001004475 exon1 c.T193C p.F65L 0.108626 0.1369 0.084499 0.1031 0.1270 0.16 T 0.0 P -0.884 T 0.478 P 0.148 P Pathogenic 1_158369319_C->A 1 158369319 158369319 C A snp 271.77 0/1 99 16 5 11 0.69 upstream rs6696357 OR10T2 AU 0.365016 0.2262 Uncertain 1_158389208_-->A 1 158389208 158389208 - A indel 608.73 0/1 99 60 25 35 0.58 downstream rs34276698 OR10K2 AU Uncertain 1_158389659_T->C 1 158389659 158389659 T C snp 271.77 0/1 99 23 11 12 0.52 downstream rs58605957 OR10K2 AU 0.280551 0.1687 Uncertain 1_158389693_C->T 1 158389693 158389693 C T snp 384.77 0/1 99 37 18 19 0.51 downstream rs77441663 OR10K2 AU 0.0377396 0.072132 0.0820 0.0001 Uncertain 1_158390252_T->G 1 158390252 158390252 T G snp 1826.77 0/1 99 152 81 71 0.47 exonic rs12239443 OR10K2 AU synonymous SNV NM_001004476 exon1 c.A405C p.L135L 0.290136 0.1687 0.380824 0.3825 0.1547 Uncertain 1_158390501_G->A 1 158390501 158390501 G A snp 3171.77 0/1 99 248 123 125 0.5 exonic rs34616883 OR10K2 AU synonymous SNV NM_001004476 exon1 c.C156T p.D52D 0.280551 0.1687 0.371905 0.3799 0.1541 Uncertain 1_158390834_C->A 1 158390834 158390834 C A snp 35.77 0/1 64 4 2 2 0.5 upstream rs10489830 OR10K2 AU 0.280751 0.1687 Uncertain 1_158435250_C->T 1 158435250 158435250 C T snp 1400.77 0/1 99 125 70 55 0.44 upstream rs1002599 OR10K1 AU 0.397165 0.5208 Uncertain 1_158435278_G->A 1 158435278 158435278 G A snp 4515.77 1/1 99 159 0 159 1.0 upstream rs1573519 OR10K1 AU 0.459465 0.5208 Uncertain 1_158435928_G->A 1 158435928 158435928 G A snp 2690.77 0/1 99 220 110 110 0.5 exonic rs41273489 OR10K1 AU nonsynonymous SNV NM_001004473 exon1 c.G577A p.G193S 0.0363419 0.068353 0.0711 0.0001 0.75 T 0.0 P -1.073 T 0.009 T 0.003 T Pathogenic 1_158436299_T->C 1 158436299 158436299 T C snp 4187.77 1/1 99 145 0 145 1.0 downstream rs4657080 OR10K1 AU 0.572284 0.5208 0.618213 0.5951 0.5149 Uncertain 1_158436355_T->- 1 158436355 158436355 T - indel 1206.73 1/1 99 41 0 41 1.0 downstream rs398049621 OR10K1 AU 0.517173 0.5208 Uncertain 1_158450192_C->T 1 158450192 158450192 C T snp 3608.77 0/1 99 250 115 135 0.54 exonic rs61741711 OR10R2 AU synonymous SNV NM_001004472 exon1 c.C525T p.A175A 0.0375399 0.072659 0.0740 0.0001 Uncertain 1_158450238_G->A 1 158450238 158450238 G A snp 3317.77 0/1 99 250 123 127 0.51 exonic rs3820678 OR10R2 AU nonsynonymous SNV NM_001004472 exon1 c.G571A p.A191T 0.182907 0.1935 0.182300 0.1963 0.1791 0.28 T 0.000 P -1.002 T 0.386 T 0.064 T Pathogenic 1_158450314_A->G 1 158450314 158450314 A G snp 7208.77 1/1 99 245 0 245 1.0 exonic rs6679056 OR10R2 AU nonsynonymous SNV NM_001004472 exon1 c.A647G p.E216G 0.496406 0.5675 0.515608 0.5226 0.5540 0.05 T 0.000 P -1.019 T 0.041 T 0.06 T Pathogenic 1_158450382_C->T 1 158450382 158450382 C T snp 2296.77 0/1 99 181 94 87 0.48 exonic rs1418843 OR10R2 AU nonsynonymous SNV NM_001004472 exon1 c.C715T p.L239F 0.434704 0.5685 0.418730 0.4406 0.5529 0.41 T 0.0 P -1.140 T 0.336 T 0.195 T Pathogenic 1_158507157_A->T 1 158507157 158507157 A T snp 4075.77 1/1 99 148 0 148 1.0 intergenic rs2051665 OR10R2 AU 0.567292 0.5754 0.5527 0.5581 Uncertain 1_158507160_T->G 1 158507160 158507160 T G snp 4239.77 1/1 99 148 0 148 1.0 intergenic rs2051666 OR10R2 AU 0.567292 0.5754 0.572027 0.5530 0.5584 Uncertain 1_158507184_A->G 1 158507184 158507184 A G snp 2081.77 0/1 99 208 119 89 0.43 intergenic rs2051068 OR10R2 AU 0.484225 0.5744 0.459714 0.4694 0.5606 Uncertain 1_158507223_A->- 1 158507223 158507223 A - indel 8208.73 1/1 99 248 0 248 1.0 intergenic rs397863702 OR10R2 AU 0.566294 0.5744 0.5540 0.5605 Uncertain 1_158507360_G->C 1 158507360 158507360 G C snp 964.77 0/1 99 84 48 36 0.43 intergenic rs77684327 OR10R2 AU 0.0375399 Uncertain 1_158507398_G->T 1 158507398 158507398 G T snp 1357.77 1/1 99 40 0 40 1.0 intergenic rs2051067 OR10R2 AU 0.566294 0.5744 Uncertain 1_158532405_T->G 1 158532405 158532405 T G snp 183.77 0/1 99 15 9 6 0.4 downstream rs7526514 OR6P1 AU 0.502796 0.5863 0.490145 0.4751 0.5429 Uncertain 1_158533140_A->G 1 158533140 158533140 A G snp 1502.77 0/1 99 125 62 63 0.5 exonic rs12080815 OR6P1 AU synonymous SNV NM_001160325 exon1 c.T255C p.F85F 0.503994 0.5863 0.490364 0.4714 0.5434 Uncertain 1_158533224_A->G 1 158533224 158533224 A G snp 1245.77 0/1 99 110 58 52 0.47 exonic rs12081915 OR6P1 AU synonymous SNV NM_001160325 exon1 c.T171C p.R57R 0.526558 0.5863 0.514017 0.4795 0.5437 Uncertain 1_158549264_G->A 1 158549264 158549264 G A snp 1112.77 0/1 99 95 48 47 0.49 exonic rs863360 OR10X1 AU synonymous SNV NM_001004477 exon1 c.C426T p.I142I 0.502396 0.5853 0.486314 0.4772 0.5720 Uncertain 1_158549420_C->T 1 158549420 158549420 C T snp 1800.77 0/1 99 145 80 65 0.45 exonic rs863361 OR10X1 AU synonymous SNV NM_001004477 exon1 c.G270A p.T90T 0.518371 0.5853 0.503998 0.4816 0.5714 Uncertain 1_158549421_G->A 1 158549421 158549421 G A snp 1931.77 0/1 99 145 66 79 0.54 exonic rs77690058 OR10X1 AU nonsynonymous SNV NM_001004477 exon1 c.C269T p.T90M 0.0379393 0.072813 0.0743 0.0001 0.01 T 0.532 N -1.085 T 1.0 D 0.998 D Pathogenic 1_158549492_C->T 1 158549492 158549492 C T snp 2109.77 0/1 99 166 77 89 0.54 exonic rs863362 OR10X1 AU stopgain NM_001004477 exon1 c.G198A p.W66X 0.502396 0.5853 0.486314 0.4769 0.5711 0.25 T 1.0 P Pathogenic 1_158549511_A->G 1 158549511 158549511 A G snp 2131.77 0/1 99 174 83 91 0.52 exonic rs863363 OR10X1 AU nonsynonymous SNV NM_001004477 exon1 c.T179C p.I60T 0.518171 0.5853 0.503998 0.4817 0.5722 0.69 T 0.0 P -0.996 T 0.0 T 0.0 T Pathogenic 1_158577109_A->C 1 158577109 158577109 A C snp 1300.77 0/1 99 105 52 53 0.5 exonic rs857685 OR10Z1 AU nonsynonymous SNV NM_001004478 exon1 c.A881C p.N294T 0.242212 0.495 0.200062 0.2637 0.4648 0 D 0.000 P -0.782 T 1.0 D 0.991 D ID=CM1212303;DIS=Mean cell haemoglobin concentration, association with;TAG=DP;PUB=23222517 DP Pathogenic 1_158580887_T->C 1 158580887 158580887 T C snp 38.77 0/1 67 5 3 2 0.4 UTR3 rs3768535 SPTA1 AR,AD 0.227436 0.2014 Uncertain 1_158580922_CA->- 1 158580922 158580923 CA - indel 238.73 0/1 52 15 5 10 0.67 UTR3 rs66981873 SPTA1 AR,AD Uncertain 1_158582543_G->A 1 158582543 158582543 G A snp 637.77 0/1 99 85 56 29 0.34 intronic rs2251963 SPTA1 AR,AD NM_003126 exon2 c.1553-63G>A 0.276957 0.4306 Uncertain 1_158582552_G->A 1 158582552 158582552 G A snp 920.77 0/1 99 98 62 36 0.37 intronic rs2251964 SPTA1 AR,AD NM_003126 exon2 c.1553-54G>A 0.276957 0.4306 Uncertain 1_158582646_T->C 1 158582646 158582646 T C snp 4422.77 1/1 99 169 0 169 1.0 exonic rs2251969 SPTA1 AR,AD synonymous SNV NM_003126 exon51 c.A7095G p.A2365A 0.504792 0.6319 0.509482 0.5385 0.6071 Uncertain 1_158582838_G->C 1 158582838 158582838 G C snp 264.77 0/1 48 10 2 8 0.8 intronic rs2157691 SPTA1 AR,AD NM_003126 exon2 c.1698+87G>C 0.252196 0.4306 Uncertain 1_158584091_A->G 1 158584091 158584091 A G snp 1138.77 1/1 90 41 1 40 0.98 exonic rs952094 SPTA1 AR,AD nonsynonymous SNV NM_003126 exon49 c.T6794C p.I2265T 0.50619 0.6319 0.506814 0.5374 0.6049 1 T 0.000 P -0.960 T 0.0 T 0.0 T Pathogenic 1_158584103_-->AA 1 158584103 158584103 - AA indel 582.73 ./1 99 32 2 30 0.94 intronic rs386368439 SPTA1 AR,AD NM_003126 exon4 c.3043+7insAA 0.239217 0.3829 0.2510 0.3351 Uncertain 1_158584103_-->A 1 158584103 158584103 - A indel 582.73 ./1 99 32 2 30 0.94 intronic rs57778257 SPTA1 AR,AD NM_003126 exon4 c.3043+7insA 0.249002 0.2153 0.2934 0.2399 Uncertain 1_158585230_C->T 1 158585230 158585230 C T snp 297.77 0/1 99 51 37 14 0.27 intronic rs2518491 SPTA1 AR,AD NM_003126 exon5 c.4140+37C>T 0.231629 0.4306 0.210376 0.2705 0.4194 Uncertain 1_158587390_C->T 1 158587390 158587390 C T snp 6835.77 1/1 99 249 0 249 1.0 intronic rs857716 SPTA1 AR,AD NM_003126 exon6 c.6325+12C>T 0.491014 0.63 0.485240 0.5331 0.6030 Uncertain 1_158587784_T->G 1 158587784 158587784 T G snp 1407.77 1/1 99 46 0 46 1.0 intronic rs857717 SPTA1 AR,AD NM_003126 exon7 c.6775-44T>G 0.9998 1 0.999320 0.9999 1 Uncertain 1_158587858_G->A 1 158587858 158587858 G A snp 1097.77 0/1 99 92 39 53 0.58 intronic rs28525570 SPTA1 AR,AD NM_003126 exon7 c.6793+12G>A 0.227835 0.2044 0.249114 0.2564 0.1912 ID=CS995155;DIS=Reduced expression;TAG=FP;PUB=10192450 FP Uncertain 1_158588916_C->G 1 158588916 158588916 C G snp 412.77 0/1 99 23 8 15 0.65 intronic rs7553252 SPTA1 AR,AD NM_003126 exon8 c.7958-95C>G 0.321286 0.2044 Uncertain 1_158592935_G->A 1 158592935 158592935 G A snp 874.77 0/1 99 109 62 47 0.43 exonic rs3753068 SPTA1 AR,AD synonymous SNV NM_003126 exon43 c.C5958T p.P1986P 0.310503 0.2044 0.325929 0.2956 0.1909 Uncertain 1_158595824_T->C 1 158595824 158595824 T C snp 322.77 0/1 99 26 16 10 0.38 intronic rs56954229 SPTA1 AR,AD NM_003126 exon11 c.14882-111T>C 0.246006 0.2044 Uncertain 1_158595842_C->A 1 158595842 158595842 C A snp 492.77 0/1 99 42 26 16 0.38 intronic rs11265038 SPTA1 AR,AD NM_003126 exon11 c.14882-93C>A 0.246006 0.2044 Uncertain 1_158596524_A->G 1 158596524 158596524 A G snp 591.77 0/1 99 40 18 22 0.55 intronic rs12088990 SPTA1 AR,AD NM_003126 exon12 c.15575-104A>G 0.225639 0.2044 Uncertain 1_158597507_G->C 1 158597507 158597507 G C snp 2532.77 0/1 99 202 100 102 0.5 exonic rs3737515 SPTA1 AR,AD nonsynonymous SNV NM_003126 exon40 c.C5572G p.L1858V 0.227835 0.2054 0.249537 0.2567 0.1910 0.05 T 0.968 P -1.004 T 0.601 T 0.395 P Pathogenic 1_158606449_G->T 1 158606449 158606449 G T snp 674.77 0/1 99 71 42 29 0.41 exonic rs3738791 SPTA1 AR,AD synonymous SNV NM_003126 exon37 c.C5292A p.A1764A 0.320487 0.2054 0.337849 0.2980 0.1909 Uncertain 1_158607788_T->G 1 158607788 158607788 T G snp 1867.77 1/1 99 65 0 65 1.0 intronic rs2518492 SPTA1 AR,AD NM_003126 exon17 c.26769-34T>G 0.9998 1 0.999165 0.9998 1 Uncertain 1_158607935_T->G 1 158607935 158607935 T G snp 2501.77 0/1 99 203 91 112 0.55 exonic rs857725 SPTA1 AR,AD nonsynonymous SNV NM_003126 exon36 c.A5077C p.K1693Q 0.245607 0.4365 0.218360 0.2737 0.4281 0.59 T 0.0 P -1.006 T 0.0 T 0.004 T ID=CM1212304;DIS=Mean cell haemoglobin concentration, association with;TAG=DP;PUB=23222517 DP Pathogenic 1_158609300_C->G 1 158609300 158609300 C G snp 663.77 0/1 99 51 24 27 0.53 intronic rs17635857 SPTA1 AR,AD NM_003126 exon18 c.28318-71C>G 0.245407 0.2004 Uncertain 1_158612236_A->G 1 158612236 158612236 A G snp 2674.77 1/1 99 112 0 112 1.0 exonic rs863931 SPTA1 AR,AD nonsynonymous SNV NM_003126 exon33 c.T4702C p.C1568R 0.59405 0.6359 0.599561 0.5789 0.6143 0.69 T 0.003 P -0.946 T 0.0 T 0.0 T Pathogenic 1_158612548_T->A 1 158612548 158612548 T A snp 945.77 0/1 99 90 45 45 0.5 intronic rs857721 SPTA1 AR,AD NM_003126 exon21 c.31550-55T>A 0.23722 0.4365 Uncertain 1_158614198_C->T 1 158614198 158614198 C T snp 1010.77 0/1 99 86 44 42 0.49 intronic rs6702040 SPTA1 AR,AD NM_003126 exon23 c.33133+12C>T 0.319688 0.2004 0.336485 0.2977 0.1875 Uncertain 1_158614884_A->C 1 158614884 158614884 A C snp 521.77 0/1 99 47 29 18 0.38 intronic SPTA1 AR,AD NM_003126 exon24 c.33924-93A>C Uncertain 1_158618223_C->T 1 158618223 158618223 C T snp 1067.77 1/1 78 38 0 38 1.0 intronic rs857677 SPTA1 AR,AD NM_003126 exon27 c.37245-75C>T 0.544129 0.5883 Uncertain 1_158618455_G->A 1 158618455 158618455 G A snp 514.77 0/1 99 44 24 20 0.45 intronic rs2246434 SPTA1 AR,AD NM_003126 exon27 c.37390+12G>A 0.228235 0.3988 0.203333 0.2534 0.4003 Uncertain 1_158618480_A->T 1 158618480 158618480 A T snp 418.77 0/1 99 30 13 17 0.57 intronic rs11265044 SPTA1 AR,AD NM_003126 exon27 c.37390+37A>T 0.246605 0.1915 0.259357 0.2471 0.1776 Uncertain 1_158619728_A->C 1 158619728 158619728 A C snp 3703.77 1/1 99 136 0 136 1.0 exonic rs2482965 SPTA1 AR,AD nonsynonymous SNV NM_003126 exon25 c.T3487G p.S1163A 0.994609 1 0.993966 0.9983 1 0.65 T 0.0 P -1.062 T 0.0 T 0.001 T Pathogenic 1_158619822_A->C 1 158619822 158619822 A C snp 1150.77 0/1 99 103 53 50 0.49 intronic rs857689 SPTA1 AR,AD NM_003126 exon28 c.38684+85A>C 0.417931 0.4097 Uncertain 1_158626378_C->T 1 158626378 158626378 C T snp 1777.77 0/1 99 168 89 79 0.47 exonic rs857691 SPTA1 AR,AD synonymous SNV NM_003126 exon20 c.G2874A p.L958L 0.423522 0.4087 0.386956 0.3093 0.4122 Uncertain 1_158627401_G->A 1 158627401 158627401 G A snp 1784.77 0/1 99 148 74 74 0.5 exonic rs755630903 SPTA1 AR,AD stopgain NM_003126 exon19 c.C2671T p.R891X 8.281e-06 0 1 T 1 A ID=COSM897821;OCCURENCE=3(central_nervous_system),1(lung),1(endometrium) ID=CM148356;DIS=Spherocytosis;TAG=DM;PUB=24895341 DM Pathogenic 1_158631171_A->C 1 158631171 158631171 A C snp 2371.77 0/1 99 210 115 95 0.45 exonic rs2518493 SPTA1 AR,AD synonymous SNV NM_003126 exon18 c.T2493G p.L831L 0.24361 0.4087 0.225358 0.2624 0.4134 Uncertain 1_158637866_AA->- 1 158637866 158637867 AA - indel 970.73 ./1 99 52 3 49 0.94 intronic rs201627640 SPTA1 AR,AD NM_003126 exon38 c.56799+14_56799+15delAA 0.0810703 0.0169 0.0685 0.0444 Uncertain 1_158637866_AAA->- 1 158637866 158637868 AAA - indel 970.73 ./1 99 52 3 49 0.94 intronic rs140998442 SPTA1 AR,AD NM_003126 exon38 c.56799+14_56799+16delAAA 0.261382 0.4018 0.284981 0.2751 0.3391 Uncertain 1_158647312_A->G 1 158647312 158647312 A G snp 925.77 1/1 69 24 0 24 1.0 intronic rs325997 SPTA1 AR,AD NM_003126 exon46 c.66426-167A>G 0.957468 1 Uncertain 1_158647495_A->T 1 158647495 158647495 A T snp 6945.77 1/1 99 249 0 249 1.0 exonic rs325996 SPTA1 AR,AD synonymous SNV NM_003126 exon7 c.T942A p.A314A 0.956869 1 0.958048 0.9850 1 Uncertain 1_158647522_A->G 1 158647522 158647522 A G snp 6639.77 1/1 99 240 2 238 0.99 exonic rs703121 SPTA1 AR,AD synonymous SNV NM_003126 exon7 c.T915C p.S305S 0.453874 0.5833 0.477734 0.5449 0.5476 Uncertain 1_158647631_T->A 1 158647631 158647631 T A snp 2069.77 1/1 99 61 1 60 0.98 intronic rs325995 SPTA1 AR,AD NM_003126 exon46 c.66571+7T>A 0.956869 1 0.958110 0.9849 1 Uncertain 1_158647669_T->C 1 158647669 158647669 T C snp 816.77 1/1 60 23 0 23 1.0 intronic rs703122 SPTA1 AR,AD NM_003126 exon46 c.66571+45T>C 0.453874 0.5833 0.476469 0.5453 0.5485 Uncertain 1_158654786_C->T 1 158654786 158654786 C T snp 800.77 1/1 60 25 0 25 1.0 intronic rs385096 SPTA1 AR,AD NM_003126 exon51 c.73844-111C>T 0.969848 1 Uncertain 1_158654852_A->G 1 158654852 158654852 A G snp 2922.77 1/1 99 105 0 105 1.0 intronic rs857937 SPTA1 AR,AD NM_003126 exon51 c.73844-45A>G 0.459065 0.5833 0.487376 0.5465 0.5482 Uncertain 1_158655036_G->A 1 158655036 158655036 G A snp 5502.77 1/1 99 203 0 203 1.0 exonic rs435080 SPTA1 AR,AD synonymous SNV NM_003126 exon2 c.C126T p.V42V 0.969848 1 0.973189 0.9920 1 Uncertain 1_158655162_C->A 1 158655162 158655162 C A snp 3076.77 1/1 99 113 0 113 1.0 intronic rs2564859 SPTA1 AR,AD NM_003126 exon51 c.74084+25C>A 0.969848 1 0.973605 0.9920 1 Uncertain 1_158656281_T->C 1 158656281 158656281 T C snp 638.77 1/1 48 27 0 27 1.0 splicing rs2564858 SPTA1 AR,AD NM_003126 exon52 c.75230-2T>C 0.969848 1 0.973127 0.9919 1 Pathogenic 1_158656347_-->AGAG 1 158656347 158656347 - AGAG indel 1128.73 1/1 60 24 0 24 1.0 UTR5 rs111674514 SPTA1 AR,AD 0.6227 0.6295 Uncertain 1_158656432_-->A 1 158656432 158656432 - A indel 132.77 1/1 21 8 0 8 1.0 UTR5 rs34783066 SPTA1 AR,AD 0.405751 0.4772 Uncertain 1_158687163_G->A 1 158687163 158687163 G A snp 7577.77 1/1 99 249 1 248 1.0 exonic rs28568406 OR6K3 AU nonsynonymous SNV NM_001005327 exon1 c.C743T p.P248L 0.388978 0.4474 0.411502 0.3888 0.4282 0.83 T 0.0 P -0.941 T 0.001 T 0.0 T Pathogenic 1_158687224_G->A 1 158687224 158687224 G A snp 7021.77 1/1 99 250 2 248 0.99 exonic rs857703 OR6K3 AU nonsynonymous SNV NM_001005327 exon1 c.C682T p.P228S 0.280351 0.4474 0.294941 0.3563 0.4274 0.1 T 0.0 P -1.062 T 0.08 T 0.05 T Pathogenic 1_158725080_C->T 1 158725080 158725080 C T snp 5558.77 1/1 99 202 2 200 0.99 exonic rs16841001 OR6K6 AU nonsynonymous SNV NM_001005184 exon1 c.C475T p.R159C 0.103435 0.1667 0.106182 0.1257 0.1719 0.05 T 1.000 P -0.924 T 0.373 T 0.066 T Pathogenic 1_158736215_G->A 1 158736215 158736215 G A snp 3624.77 1/1 99 130 0 130 1.0 exonic rs6666753 OR6N1 AU synonymous SNV NM_001005185 exon1 c.C258T p.L86L 0.8125 0.9087 0.864370 0.8701 0.9184 Uncertain 1_158747432_C->A 1 158747432 158747432 C A snp 568.77 0/1 99 49 23 26 0.53 upstream rs41264044 OR6N2 AU 0.00259585 0.004160 0.0046 0 Uncertain 1_158747506_C->G 1 158747506 158747506 C G snp 151.77 0/1 99 14 7 7 0.5 upstream rs11805711 OR6N2 AU 0.119808 0.129 Uncertain 1_158813819_A->G 1 158813819 158813819 A G snp 1984.77 0/1 99 145 60 85 0.59 exonic rs857870 MNDA AU synonymous SNV NM_002432 exon4 c.A477G p.P159P 0.528155 0.6954 0.504690 0.5601 0.6692 Uncertain 1_158817474_A->G 1 158817474 158817474 A G snp 212.77 0/1 99 17 10 7 0.41 intronic rs2261107 MNDA AU NM_002432 exon6 c.5574-43A>G 0.194089 0.2569 0.252268 0.2689 0.2621 Uncertain 1_158909164_C->A 1 158909164 158909164 C A snp 1419.77 1/1 99 38 0 38 1.0 intronic rs2325704 PYHIN1 AU NM_198930 exon4 c.2337+127C>A 0.797724 0.8522 0.7918 0.8659 Uncertain 1_158913525_A->G 1 158913525 158913525 A G snp 1751.77 1/1 99 55 0 55 1.0 intronic rs856082 PYHIN1 AU NM_198930 exon6 c.6879-54A>G 0.916933 1 Uncertain 1_158913532_C->T 1 158913532 158913532 C T snp 758.77 0/1 99 67 38 29 0.43 intronic rs4656498 PYHIN1 AU NM_198930 exon6 c.6879-47C>T 0.366014 0.503 0.360243 0.4395 0.5323 Uncertain 1_158984262_T->A 1 158984262 158984262 T A snp 48.74 1/1 6 2 0 2 1.0 intronic rs72480249 IFI16 AU Uncertain 1_158986225_T->C 1 158986225 158986225 T C snp 148.77 0/1 99 10 5 5 0.5 intronic rs856042 IFI16 AU NM_005531 exon4 c.1852-97T>C 0.640575 0.5933 Uncertain 1_158986477_G->C 1 158986477 158986477 G C snp 2934.77 0/1 99 202 77 125 0.62 exonic rs866484 IFI16 AU nonsynonymous SNV NM_005531 exon4 c.G536C p.S179T 0.636182 0.5933 0.671152 0.7286 0.6444 1 T 0.0 P -0.919 T 0.0 T 0.001 T Pathogenic 1_158987941_A->G 1 158987941 158987941 A G snp 874.77 0/1 99 58 23 35 0.6 intronic rs856046 IFI16 AU NM_005531 exon5 c.3548-77A>G 0.511382 0.504 Uncertain 1_158988463_G->A 1 158988463 158988463 G A snp 445.77 0/1 99 28 12 16 0.57 intronic rs41264055 IFI16 AU NM_005531 exon5 c.3971+22G>A 0.00958466 0.0218 0.008385 0.0112 0.0200 Uncertain 1_159002155_T->A 1 159002155 159002155 T A snp 212.84 1/1 18 6 0 6 1.0 intronic rs856058 IFI16 AU NM_005531 exon7 c.17843-158T>A 0.632588 0.6002 Uncertain 1_159002222_A->G 1 159002222 159002222 A G snp 1047.77 1/1 78 30 0 30 1.0 intronic rs861318 IFI16 AU NM_005531 exon7 c.17843-91A>G 0.632788 0.6002 Uncertain 1_159002301_T->C 1 159002301 159002301 T C snp 3228.29 1/1 99 120 0 120 1.0 intronic rs2518553 IFI16 AU NM_005531 exon7 c.17843-12T>C 0.630192 0.5873 0.686068 0.7760 0.6582 Uncertain 1_159002377_C->A 1 159002377 159002377 C A snp 5304.77 1/1 99 206 1 205 1.0 exonic rs1057027 IFI16 AU nonsynonymous SNV NM_001206567 exon6 c.C1057A p.R353S 0.63099 0.5883 0.686068 0.7674 0.6382 1 T 0.0 P -0.924 T 0.0 T 0.001 T Pathogenic 1_159002389_T->A 1 159002389 159002389 T A snp 5311.77 1/1 99 207 0 207 1.0 exonic rs1057028 IFI16 AU nonsynonymous SNV NM_001206567 exon6 c.T1069A p.Y357N 0.630791 0.5873 0.686145 0.7674 0.6376 0.58 T 0.0 P -0.927 T 0.0 T 0.0 T Pathogenic 1_159002557_A->G 1 159002557 159002557 A G snp 347.78 1/1 27 9 0 9 1.0 intronic rs1633256 IFI16 AU NM_005531 exon7 c.18011+76A>G 0.629792 0.5893 Uncertain 1_159043352_G->A 1 159043352 159043352 G A snp 914.77 0/1 99 89 51 38 0.43 intronic rs74555135 AIM2 AU NM_004833 exon5 c.10828+43G>A 0.138978 0.3571 Uncertain 1_159169641_T->C 1 159169641 159169641 T C snp 587.77 0/1 99 51 25 26 0.51 exonic rs862999 CADM3 AU synonymous SNV NM_001127173 exon8 c.T1053C p.L351L 0.83107 0.9276 0.789636 0.7743 0.9296 Uncertain 1_159174824_G->C 1 159174824 159174824 G C snp 7790.77 1/1 99 248 0 248 1.0 upstream rs863001 ACKR1 AU,AD 1 1 Uncertain 1_159174920_C->T 1 159174920 159174920 C T snp 2633.77 0/1 99 207 95 112 0.54 upstream rs863002 ACKR1 AU,AD 0.200879 0.0774 Uncertain 1_159175005_T->- 1 159175005 159175005 T - indel 579.73 0/1 99 35 11 24 0.69 upstream rs17838198 ACKR1 AU,AD 0.777556 0.6766 Uncertain 1_159175354_G->A 1 159175354 159175354 G A snp 3515.77 0/1 99 250 116 134 0.54 exonic rs12075 ACKR1 AU,AD nonsynonymous SNV NM_001122951 exon1 c.G131A p.G44D 0.540535 0.0774 0.692296 0.5235 0.0507 1 T 0.0 P -0.945 T 0.0 T 0.0 T CLINSIG=non-pathogenic;CLNDBN=DUFFY_BLOOD_GROUP_SYSTEM\x2c_FYA/FYB_POLYMORPHISM;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000000005.1;CLNDSDB=.;CLNDSDBID=. ID=CM950484;DIS=Duffy blood group antigen, absence;TAG=FP;PUB=7705836 FP Pathogenic 1_159277542_G->A 1 159277542 159277542 G A snp 2038.77 0/1 99 212 125 87 0.41 exonic rs142312060 FCER1A AU synonymous SNV NM_002001 exon6 c.G594A p.P198P 0.00658946 0.0109 0.003076 0.0057 0.0079 Uncertain 1_159402584_-->T 1 159402584 159402584 - T indel 3653.73 1/1 99 100 1 99 0.99 intergenic rs11419544 OR10J3 AU 0.905152 1 0.9601 1 Uncertain 1_159409196_T->C 1 159409196 159409196 T C snp 3422.77 1/1 99 124 0 124 1.0 upstream rs6691297 OR10J1 AU 0.904752 1 Uncertain 1_159409479_T->G 1 159409479 159409479 T G snp 1047.77 0/1 99 64 29 35 0.55 upstream rs12145616 OR10J1 AU 0.127196 0.252 Uncertain 1_159409533_G->A 1 159409533 159409533 G A snp 4319.77 1/1 99 148 1 147 0.99 UTR5 rs10908721 OR10J1 AU 0.910743 1 0.910272 0.9622 0.9999 Uncertain 1_159409734_G->T 1 159409734 159409734 G T snp 7812.77 1/1 99 250 0 250 1.0 exonic rs10908722 OR10J1 AU nonsynonymous SNV NM_012351 exon1 c.G186T p.M62I 0.988219 1 0.989236 0.9969 1 0.51 T 0.0 P -0.903 T 0.0 T 0.0 T Pathogenic 1_159409884_G->A 1 159409884 159409884 G A snp 2253.77 0/1 99 158 71 87 0.55 exonic rs12118628 OR10J1 AU nonsynonymous SNV NM_012351 exon1 c.G336A p.M112I 0.127196 0.252 0.097570 0.1362 0.2293 0.03 T 0.047 P -0.912 T 0.08 T 0.05 T Pathogenic 1_159410340_T->A 1 159410340 159410340 T A snp 1586.77 0/1 99 172 99 73 0.42 exonic rs12409540 OR10J1 AU stopgain NM_012351 exon1 c.T792A p.C264X 0.0844649 0.0278 0.107104 0.1235 0.0135 1 T 1.000 P Pathogenic 1_159505101_G->A 1 159505101 159505101 G A snp 1870.77 0/1 99 153 80 73 0.48 exonic rs35393723 OR10J5 AU nonsynonymous SNV NM_001004469 exon1 c.C697T p.R233W 0.0984425 0.0248 0.139859 0.1618 0.0099 0.01 T 0.0 P -1.027 T 0.145 T 0.045 T ID=CM141941;DIS=Altered receptor function;TAG=FP;PUB=24316890 FP Pathogenic 1_159505297_C->T 1 159505297 159505297 C T snp 2679.77 0/1 99 249 133 116 0.47 exonic rs4656837 OR10J5 AU synonymous SNV NM_001004469 exon1 c.G501A p.P167P 0.552915 0.494 0.598339 0.6475 0.4722 Uncertain 1_159558258_A->G 1 159558258 159558258 A G snp 3495.77 1/1 99 118 0 118 1.0 exonic rs2808661 APCS AU synonymous SNV NM_001639 exon2 c.A432G p.V144V 0.900359 0.9921 0.866677 0.8462 0.9880 Uncertain 1_159684048_CACACACA->- 1 159684048 159684055 CACACACA - indel 1842.73 ./1 99 37 0 37 1.0 intronic rs113155790 CRP AU NM_000567 exon1 c.614+120_614+127delCACACACA Uncertain 1_159684048_CACACACACA->- 1 159684048 159684057 CACACACACA - indel 1842.73 ./1 99 37 0 37 1.0 intronic CRP AU NM_000567 exon1 c.614+120_614+129delCACACACACA Uncertain 1_159750802_G->C 1 159750802 159750802 G C snp 302.77 0/1 99 42 30 12 0.29 intronic rs3806189 DUSP23 AU 0.134385 0.121 Uncertain 1_159778699_G->A 1 159778699 159778699 G A snp 1106.77 0/1 99 107 64 43 0.4 intronic rs12042065 FCRL6 AU NM_001284217 exon5 c.8363-51G>A 0.308906 0.374 0.377355 Uncertain 1_159783412_A->G 1 159783412 159783412 A G snp 1067.77 0/1 99 84 38 46 0.55 intronic rs76282094 FCRL6 AU NM_001284217 exon8 c.12957+68A>G 0.130591 0.2321 0.027376 Uncertain 1_159785284_C->G 1 159785284 159785284 C G snp 4541.77 1/1 99 163 0 163 1.0 intronic rs4411129 FCRL6 AU NM_001284217 exon10 c.14862+35C>G 0.795727 0.7867 0.778794 0.7419 0.8159 Uncertain 1_159799599_-->A 1 159799599 159799599 - A indel 1271.73 0/1 99 103 61 42 0.41 intronic rs11422063 SLAMF8 AU NM_020125 exon2 c.2967-56insA 0.876597 0.8274 Uncertain 1_159824967_G->C 1 159824967 159824967 G C snp 2599.77 1/1 99 90 0 90 1.0 exonic rs2501340 C1orf204 AU nonsynonymous SNV NM_001134233 exon1 c.C61G p.Q21E 0.93111 0.9474 0.899255 0.9057 0.9506 0.04 T 0.000 P -1.071 T 0.0 T 0.0 T Pathogenic 1_159825061_G->C 1 159825061 159825061 G C snp 2687.77 1/1 99 105 0 105 1.0 UTR5 rs2501339 C1orf204 AU 0.632388 0.6161 0.602278 0.5403 0.5698 Uncertain 1_159826048_C->T 1 159826048 159826048 C T snp 178.9 1/1 15 5 0 5 1.0 intronic rs2494500 VSIG8 AU NM_001013661 exon2 c.1329+177C>T 0.99381 1 Uncertain 1_159826561_-->CACA 1 159826561 159826561 - CACA indel 1002.92 0/1 5 41 1 40 0.98 intronic rs111861505 VSIG8 AU NM_001013661 exon3 c.1891+128insCACA Uncertain 1_159827416_C->A 1 159827416 159827416 C A snp 141.03 1/1 12 4 0 4 1.0 intronic rs4477268 VSIG8 AU NM_001013661 exon4 c.2992-118C>A 0.359824 0.3819 Uncertain 1_159827456_A->G 1 159827456 159827456 A G snp 476.77 1/1 36 13 0 13 1.0 intronic rs2494503 VSIG8 AU NM_001013661 exon4 c.2992-78A>G 0.661342 0.7192 Uncertain 1_159827475_G->A 1 159827475 159827475 G A snp 884.77 1/1 66 25 0 25 1.0 intronic rs11584200 VSIG8 AU NM_001013661 exon4 c.2992-59G>A 0.358826 0.38 Uncertain 1_159828128_A->G 1 159828128 159828128 A G snp 1512.77 1/1 99 50 0 50 1.0 intronic rs2494504 VSIG8 AU NM_001013661 exon5 c.3539+47A>G 0.930711 0.9504 0.899969 0.9008 0.9475 Uncertain 1_159828746_G->A 1 159828746 159828746 G A snp 1026.77 1/1 75 34 0 34 1.0 intronic rs2501337 VSIG8 AU NM_001013661 exon6 c.4160+44G>A 0.638978 0.745 0.609411 0.6731 0.7199 Uncertain 1_159842088_T->A 1 159842088 159842088 T A snp 594.77 1/1 45 17 0 17 1.0 downstream rs2494518 CFAP45 AU 0.798522 0.8442 Uncertain 1_159842566_T->A 1 159842566 159842566 T A snp 94.28 1/1 9 3 0 3 1.0 intronic rs4545332 CFAP45 AU NM_012337 exon2 c.459-167T>A 0.608826 0.7887 Uncertain 1_159842691_C->G 1 159842691 159842691 C G snp 4233.77 1/1 99 151 0 151 1.0 intronic rs4460634 CFAP45 AU NM_012337 exon2 c.459-42C>G 0.609026 0.7887 0.559674 0.6600 0.7648 Uncertain 1_159854392_C->A 1 159854392 159854392 C A snp 1022.77 1/1 75 35 0 35 1.0 intronic rs2501325 CFAP45 AU NM_012337 exon6 c.12081+37C>A 0.801318 0.8433 0.780025 0.7799 0.8376 Uncertain 1_159857555_G->T 1 159857555 159857555 G T snp 56.74 1/1 6 2 0 2 1.0 intronic rs74124749 CFAP45 AU NM_012337 exon8 c.15356-75G>T 0.140974 0.2877 Uncertain 1_159889686_G->A 1 159889686 159889686 G A snp 3112.77 1/1 99 118 0 118 1.0 intronic rs2252815 TAGLN2 AU NM_001277224 exon3 c.1036+61G>A 0.510583 0.6419 Uncertain 1_159897126_C->T 1 159897126 159897126 C T snp 235.77 0/1 99 22 12 10 0.45 UTR3 rs13052 IGSF9 AU 0.667332 0.7143 0.598718 0.5858 0.7255 Uncertain 1_159897132_T->C 1 159897132 159897132 T C snp 353.77 0/1 99 26 12 14 0.54 UTR3 rs2153209 IGSF9 AU 0.13099 0.0625 0.124497 0.0651 0.0362 Uncertain 1_159897327_C->T 1 159897327 159897327 C T snp 1765.77 0/1 99 151 72 79 0.52 intronic rs2153208 IGSF9 AU NM_001135050 exon1 c.182+11C>T 0.16893 0.0635 0.184239 0.1148 0.0362 Uncertain 1_159897638_T->C 1 159897638 159897638 T C snp 440.77 0/1 99 75 48 27 0.36 exonic rs77570237 IGSF9 AU synonymous SNV NM_001135050 exon20 c.A3270G p.S1090S 0.077476 0.0625 0.062510 0.0432 0.0363 Uncertain 1_159897682_A->- 1 159897682 159897682 A - indel 1032.73 1/1 99 64 1 63 0.98 splicing rs560105134 IGSF9 AU NM_001135050 exon2 c.543+5delA 0.366014 0.3095 0.3583 0.2698 Pathogenic 1_159897754_C->T 1 159897754 159897754 C T snp 201.77 0/1 99 26 17 9 0.35 intronic rs80070763 IGSF9 AU NM_001135050 exon2 c.543+77C>T 0.13119 0.0635 Uncertain 1_159898913_A->G 1 159898913 159898913 A G snp 417.77 0/1 99 41 23 18 0.44 intronic rs7543462 IGSF9 AU NM_001135050 exon3 c.1674+105A>G 0.669329 0.7153 Uncertain 1_159902520_G->C 1 159902520 159902520 G C snp 674.77 0/1 99 60 29 31 0.52 intronic rs75376900 IGSF9 AU NM_001135050 exon12 c.5308+78G>C 0.15016 0.0883 Uncertain 1_159902526_T->C 1 159902526 159902526 T C snp 608.77 0/1 99 56 29 27 0.48 intronic rs3827531 IGSF9 AU NM_001135050 exon12 c.5308+84T>C 0.669129 0.7113 Uncertain 1_159907441_C->T 1 159907441 159907441 C T snp 1100.77 0/1 99 89 39 50 0.56 intronic rs12751760 IGSF9 AU NM_001135050 exon18 c.10341-34C>T 0.109824 0.1796 0.055744 0.0729 0.1668 Uncertain 1_159912899_C->T 1 159912899 159912899 C T snp 887.77 0/1 99 70 33 37 0.53 exonic rs3747617 IGSF9 AU nonsynonymous SNV NM_001135050 exon3 c.G101A p.G34E 0.0784744 0.1528 0.045608 0.0677 0.1272 1.000 P -0.494 T 1.0 D 0.999 D Pathogenic 1_159913229_C->T 1 159913229 159913229 C T snp 1544.77 0/1 99 129 61 68 0.53 exonic rs141770733 IGSF9 AU nonsynonymous SNV NM_001135050 exon2 c.G16A p.G6S 0.000399361 0.002 0.0003 0.0030 1 N -1.027 T 0.168 T 0.01 T Pathogenic 1_159922369_C->T 1 159922369 159922369 C T snp 1646.77 1/1 99 54 0 54 1.0 intronic rs2840583 SLAMF9 AU NM_033438 exon2 c.874+45C>T 0.892772 1 0.859603 0.9032 0.9998 Uncertain 1_159922458_A->G 1 159922458 159922458 A G snp 119.77 0/1 99 8 4 4 0.5 intronic rs1317520 SLAMF9 AU NM_033438 exon2 c.874+134A>G 0.271366 0.1508 Uncertain 1_159922959_C->T 1 159922959 159922959 C T snp 86.77 0/1 30 5 1 4 0.8 intronic rs2249707 SLAMF9 AU NM_001146172 exon2 c.1648-139C>T 0.585463 0.8393 Uncertain 1_159923111_T->G 1 159923111 159923111 T G snp 2655.77 1/1 99 93 0 93 1.0 exonic rs2789417 SLAMF9 AU nonsynonymous SNV NM_001146172 exon2 c.A379C p.I127L 0.890176 1 0.858604 0.9030 0.9998 0.0 P -0.970 T 0.0 T 0.001 T Pathogenic 1_160062340_G->A 1 160062340 160062340 G A snp 925.77 0/1 99 71 33 38 0.54 exonic rs41265757 IGSF8 AU synonymous SNV NM_052868 exon5 c.C1458T p.D486D 0.0946486 0.1786 0.088937 0.1321 0.1760 Uncertain 1_160085868_A->C 1 160085868 160085868 A C snp 261.8 1/1 21 7 0 7 1.0 intronic rs2854244 ATP1A2 AD NM_000702 exon1 c.12+205A>C 0.578474 0.6062 Uncertain 1_160090674_T->C 1 160090674 160090674 T C snp 1960.77 1/1 99 73 0 73 1.0 intronic rs2854246 ATP1A2 AD NM_000702 exon2 c.5044-21T>C 1 1 0.999766 0.9999 1 Uncertain 1_160090682_CCTT->- 1 160090682 160090685 CCTT - indel 4908.73 1/1 99 74 0 74 1.0 intronic rs373796693 ATP1A2 AD NM_000702 exon2 c.5044-13_5044-10delCCTT 0.689297 0.8472 0.686024 0.7739 0.8392 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000152809.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 1_160093222_C->T 1 160093222 160093222 C T snp 3906.77 1/1 99 141 0 141 1.0 intronic rs2820581 ATP1A2 AD NM_000702 exon4 c.7555+16C>T 0.942492 1 0.949408 0.9849 1 Uncertain 1_160093911_T->C 1 160093911 160093911 T C snp 1086.77 1/1 78 36 0 36 1.0 intronic rs2820582 ATP1A2 AD NM_000702 exon5 c.8195+65T>C 0.954673 1 Uncertain 1_160093927_T->A 1 160093927 160093927 T A snp 916.77 1/1 66 30 0 30 1.0 intronic rs2854248 ATP1A2 AD NM_000702 exon5 c.8195+81T>A 0.407149 0.4732 Uncertain 1_160094343_T->C 1 160094343 160094343 T C snp 137.03 1/1 12 5 0 5 1.0 intronic rs1023420 ATP1A2 AD NM_000702 exon6 c.8569+123T>C 0.242612 0.3373 Uncertain 1_160124875_G->A 1 160124875 160124875 G A snp 1567.77 1/1 99 57 0 57 1.0 exonic rs6427504 ATP1A4 AU nonsynonymous SNV NM_144699 exon3 c.G248A p.G83D 0.693091 0.6835 0.727126 0.6977 0.6695 1 T 1.0 P -1.035 T 0.0 T 0.0 T Pathogenic 1_160128671_G->A 1 160128671 160128671 G A snp 335.77 0/1 99 30 13 17 0.57 intronic rs4656888 ATP1A4 AU NM_144699 exon5 c.6961-120G>A 0.340655 0.3988 Uncertain 1_160128994_C->T 1 160128994 160128994 C T snp 433.77 1/1 33 14 0 14 1.0 intronic rs10908764 ATP1A4 AU NM_144699 exon5 c.7096+68C>T 0.86881 0.995 Uncertain 1_160134205_C->T 1 160134205 160134205 C T snp 883.77 0/1 99 71 38 33 0.46 exonic rs11265338 ATP1A4 AU synonymous SNV NM_144699 exon7 c.C1038T p.A346A 0.528754 0.5417 0.550515 0.6055 0.5870 Uncertain 1_160136350_G->A 1 160136350 160136350 G A snp 4249.77 1/1 99 140 0 140 1.0 exonic rs7529215 ATP1A4 AU synonymous SNV NM_144699 exon8 c.G1080A p.A360A 0.468251 0.4851 0.487621 0.5294 0.4521 Uncertain 1_160140998_G->A 1 160140998 160140998 G A snp 754.77 1/1 57 24 0 24 1.0 intronic rs1209804 ATP1A4 AU NM_144699 exon11 c.19210-42G>A 0.563099 0.9167 0.457481 0.5618 0.9039 Uncertain 1_160141196_C->T 1 160141196 160141196 C T snp 4772.77 1/1 99 182 0 182 1.0 exonic rs625549 ATP1A4 AU synonymous SNV NM_144699 exon11 c.C1647T p.Y549Y 0.993011 1 0.991927 0.9978 1 Uncertain 1_160145688_C->G 1 160145688 160145688 C G snp 425.77 1/1 33 12 0 12 1.0 intronic rs1884996 ATP1A4 AU NM_144699 exon16 c.24051-193C>G 0.802117 0.8938 Uncertain 1_160146173_T->C 1 160146173 160146173 T C snp 2489.77 1/1 99 84 0 84 1.0 intronic rs881291 ATP1A4 AU NM_144699 exon17 c.24438-95T>C 0.296326 0.624 Uncertain 1_160147502_T->G 1 160147502 160147502 T G snp 1615.77 1/1 99 56 0 56 1.0 intronic rs731852 ATP1A4 AU NM_144699 exon18 c.25624+48T>G 0.786542 0.881 0.708673 0.7188 0.8784 Uncertain 1_160147510_G->A 1 160147510 160147510 G A snp 1464.77 1/1 99 52 0 52 1.0 intronic rs731853 ATP1A4 AU NM_144699 exon18 c.25624+56G>A 0.290535 0.62 Uncertain 1_160151421_G->C 1 160151421 160151421 G C snp 1898.77 1/1 99 65 0 65 1.0 intronic rs11265350 ATP1A4 AU NM_144699 exon19 c.29643-52G>C 0.310304 0.6409 Uncertain 1_160151450_T->C 1 160151450 160151450 T C snp 2544.77 1/1 99 91 0 91 1.0 intronic rs7519748 ATP1A4 AU NM_144699 exon19 c.29643-23T>C 0.805511 0.8889 0.737583 0.7330 0.8893 Uncertain 1_160151624_-->C 1 160151624 160151624 - C indel 7975.73 1/1 99 215 0 215 1.0 intronic rs36097870 ATP1A4 AU NM_144699 exon19 c.29774+20insC 0.683506 0.8889 0.6298 0.8892 Uncertain 1_160156027_C->G 1 160156027 160156027 C G snp 2722.77 1/1 99 96 0 96 1.0 intronic rs12131640 ATP1A4 AU NM_144699 exon21 c.34235-38C>G 0.376997 0.7054 0.309549 0.3546 0.7045 Uncertain 1_160163446_C->T 1 160163446 160163446 C T snp 122.77 0/1 66 6 2 4 0.67 intronic rs3747621 CASQ1 AD NM_001231 exon3 c.2995-90C>T 0.482628 0.6835 Uncertain 1_160163509_C->T 1 160163509 160163509 C T snp 455.77 0/1 99 33 16 17 0.52 intronic rs3747623 CASQ1 AD NM_001231 exon3 c.2995-27C>T 0.303914 0.5665 0.290020 0.3682 0.5469 Uncertain 1_160164668_T->C 1 160164668 160164668 T C snp 582.77 1/1 45 17 0 17 1.0 intronic rs1186693 CASQ1 AD NM_001231 exon4 c.4260-133T>C 0.978035 1 Uncertain 1_160165246_C->G 1 160165246 160165246 C G snp 2556.77 0/1 99 249 130 119 0.48 splicing rs78149381 CASQ1 AD NM_001231 exon5 c.4709-4C>G 0.0199681 0.0794 0.000769 0.0070 0.0675 Pathogenic 1_160165451_C->T 1 160165451 160165451 C T snp 135.77 0/1 99 12 6 6 0.5 intronic rs10908769 CASQ1 AD NM_001231 exon5 c.4783+127C>T 0.350639 0.2927 Uncertain 1_160165561_CA->- 1 160165561 160165562 CA - indel 1263.73 0/1 99 65 35 30 0.46 intronic rs138817826 CASQ1 AD NM_001231 exon6 c.5145-125_5145-124delCA 0.0225639 0.0962 Uncertain 1_160168368_G->A 1 160168368 160168368 G A snp 682.77 0/1 99 63 33 30 0.48 intronic rs822450 CASQ1 AD NM_001231 exon8 c.7925-98G>A 0.325679 0.5476 Uncertain 1_160169473_T->C 1 160169473 160169473 T C snp 296.78 1/1 24 8 0 8 1.0 intronic rs959166 CASQ1 AD NM_001231 exon10 c.9099-167T>C 0.990016 1 Uncertain 1_160178356_A->G 1 160178356 160178356 A G snp 1229.77 1/1 87 44 0 44 1.0 ncRNA_intronic rs667306 LOC729867 AU 0.990415 1 0.9980 1 Uncertain 1_160178376_C->G 1 160178376 160178376 C G snp 525.77 0/1 99 51 26 25 0.49 ncRNA_intronic rs3789040 LOC729867 AU 0.0397364 0.0933 0.0369 0.1010 Uncertain 1_160251792_A->G 1 160251792 160251792 A G snp 1335.77 0/1 99 123 65 58 0.47 intronic rs2795067 PEX19 AU NM_002857 exon4 c.2488-36A>G 0.670327 0.4484 0.655467 0.5955 0.4852 Uncertain 1_160254928_A->C 1 160254928 160254928 A C snp 929.77 0/1 99 109 69 40 0.37 UTR5 rs2301297 PEX19 AU 0.0221645 0.0933 0.000615 0.0092 0.0827 Uncertain 1_160262825_AA->- 1 160262825 160262826 AA - indel 2201.73 0/1 99 75 28 47 0.63 intronic rs3834718 COPA AD NM_004371 exon7 c.3009-130_3009-129delAA 0.0938498 0.0923 Uncertain 1_160263124_C->T 1 160263124 160263124 C T snp 2363.77 0/1 99 203 104 99 0.49 intronic rs1317944 COPA AD NM_004371 exon8 c.3229-51C>T 0.669129 0.4435 0.644660 Uncertain 1_160267555_G->A 1 160267555 160267555 G A snp 528.77 0/1 99 33 14 19 0.58 intronic rs10159339 COPA AD NM_004371 exon14 c.7589+20G>A 0.0429313 0.0913 0.017838 0.0298 0.0829 Uncertain 1_160275434_A->G 1 160275434 160275434 A G snp 3802.77 1/1 99 133 0 133 1.0 intronic rs2066320 COPA AD NM_004371 exon18 c.15531-43A>G 0.978035 1 0.963248 0.9610 0.9988 Uncertain 1_160302444_G->A 1 160302444 160302444 G A snp 163.77 0/1 99 10 3 7 0.7 intronic rs4656897 COPA AD NM_004371 exon28 c.42401+97G>A 0.668331 0.4395 Uncertain 1_160303416_G->A 1 160303416 160303416 G A snp 2288.77 0/1 99 206 107 99 0.48 exonic rs1802778 COPA AD synonymous SNV NM_004371 exon5 c.C363T p.N121N 0.66274 0.4395 0.644702 0.5788 0.4686 Uncertain 1_160309664_T->G 1 160309664 160309664 T G snp 1567.77 0/1 99 116 53 63 0.54 intronic rs1886419 COPA AD NM_004371 exon31 c.49752-34T>G 0.667332 0.4385 0.655313 0.5899 0.4696 Uncertain 1_160313330_C->G 1 160313330 160313330 C G snp 369.77 0/1 99 29 14 15 0.52 UTR5 rs3737794 COPA AD 0.166134 0.0913 Uncertain 1_160318940_A->G 1 160318940 160318940 A G snp 1202.77 0/1 99 99 44 55 0.56 intronic rs6669689 NCSTN AD NM_015331 exon3 c.5726+28A>G 0.558906 0.4802 0.524988 0.5276 0.4929 Uncertain 1_160319055_T->C 1 160319055 160319055 T C snp 118.77 0/1 99 9 4 5 0.56 intronic rs12239946 NCSTN AD NM_015331 exon3 c.5726+143T>C 0.149561 0.1369 Uncertain 1_160321656_G->A 1 160321656 160321656 G A snp 225.77 0/1 99 16 8 8 0.5 intronic rs1041066 NCSTN AD NM_015331 exon7 c.8409+61G>A 0.0453275 0.0764 Uncertain 1_160327820_G->C 1 160327820 160327820 G C snp 410.77 0/1 99 40 25 15 0.38 intronic rs17370539 NCSTN AD NM_015331 exon17 c.14752-118G>C 0.108027 0.1071 Uncertain 1_160327865_C->T 1 160327865 160327865 C T snp 778.77 0/1 99 67 33 34 0.51 intronic rs41266887 NCSTN AD NM_015331 exon17 c.14752-73C>T 0.0459265 0.0764 Uncertain 1_160385990_G->A 1 160385990 160385990 G A snp 999.77 0/1 99 79 35 44 0.56 intronic rs201963368 VANGL2 AD NM_020335 exon3 c.345+18G>A 0.00139776 0.0069 0.0007 0.0079 Uncertain 1_160393905_A->G 1 160393905 160393905 A G snp 1758.77 0/1 99 160 82 78 0.49 exonic rs12086448 VANGL2 AD synonymous SNV NM_020335 exon7 c.A1137G p.K379K 0.576677 0.371 0.608719 0.5214 0.3691 Uncertain 1_160394156_T->- 1 160394156 160394156 T - indel 869.73 0/1 99 61 37 24 0.39 intronic rs68148622 VANGL2 AD NM_020335 exon7 c.8446+83delT 0.0880591 0.1052 Uncertain 1_160456712_G->C 1 160456712 160456712 G C snp 141.77 0/1 99 13 8 5 0.38 intronic rs3795329 SLAMF6 AU NM_001184716 exon1 c.48+168G>C 0.171526 0.1915 Uncertain 1_160459909_C->A 1 160459909 160459909 C A snp 909.77 0/1 99 72 32 40 0.56 intronic rs12119876 SLAMF6 AU NM_001184716 exon4 c.3491-78C>A 0.166933 0.1885 0.180245 Uncertain 1_160460099_T->A 1 160460099 160460099 T A snp 108.77 0/1 99 13 8 5 0.38 intronic rs11265413 SLAMF6 AU NM_001184716 exon4 c.3530+73T>A 0.168331 0.1905 0.180683 Uncertain 1_160460127_A->G 1 160460127 160460127 A G snp 122.77 0/1 62 8 3 5 0.63 intronic rs41266907 SLAMF6 AU NM_001184716 exon4 c.3530+101A>G 0.0415335 0.0565 Uncertain 1_160461060_C->T 1 160461060 160461060 C T snp 1923.77 0/1 99 173 84 89 0.51 exonic rs16832061 SLAMF6 AU synonymous SNV NM_001184716 exon2 c.G168A p.E56E 0.0413339 0.0565 0.031985 0.0367 0.0514 Uncertain 1_160461186_C->T 1 160461186 160461186 C T snp 1043.77 0/1 99 92 42 50 0.54 intronic rs111565716 SLAMF6 AU NM_001184716 exon6 c.4682+8C>T 0.0413339 0.0565 0.032062 0.0370 0.0514 Uncertain 1_160461250_T->C 1 160461250 160461250 T C snp 400.77 0/1 99 26 14 12 0.46 intronic rs16832062 SLAMF6 AU NM_001184716 exon6 c.4682+72T>C 0.0411342 0.0556 Uncertain 1_160466322_-->A 1 160466322 160466322 - A indel 606.73 0/1 99 36 17 19 0.53 intronic rs3838979 SLAMF6 AU NM_001184714 exon7 c.9687+139insA 0.0417332 0.0565 Uncertain 1_160466356_A->G 1 160466356 160466356 A G snp 184.77 0/1 99 12 6 6 0.5 intronic rs3795326 SLAMF6 AU NM_001184714 exon7 c.9687+173A>G 0.202276 0.1925 Uncertain 1_160519812_-->A 1 160519812 160519812 - A indel 2170.73 1/1 99 58 1 57 0.98 intronic rs3832278 CD84 AU NM_001184879 exon2 c.1724+43insA 0.322284 0.2212 0.369228 0.0700 0.0411 Uncertain 1_160519815_-->T 1 160519815 160519815 - T indel 1910.73 1/1 99 46 0 46 1.0 intronic rs397757172 CD84 AU NM_001184879 exon2 c.1724+46insT 0.322085 0.2212 0.295488 0.0682 0.0384 Uncertain 1_160522787_A->G 1 160522787 160522787 A G snp 46.77 0/1 33 3 1 2 0.67 intronic rs41266913 CD84 AU NM_001184879 exon4 c.4482+260A>G 0.0497204 0.0605 Uncertain 1_160549054_C->G 1 160549054 160549054 C G snp 604.77 0/1 99 41 22 19 0.46 intronic rs146763202 CD84 AU NM_001184879 exon8 c.31136-127C>G 0.00499201 0.0198 Uncertain 1_160580807_T->C 1 160580807 160580807 T C snp 56.74 1/1 6 2 0 2 1.0 intronic rs349251 SLAMF1 AU NM_003037 exon1 c.51+219T>C 0.840455 0.8829 Uncertain 1_160585554_C->G 1 160585554 160585554 C G snp 3995.77 1/1 99 155 0 155 1.0 intronic rs149160 SLAMF1 AU NM_003037 exon2 c.1833+3184C>G 0.985024 1 0.9982 1 0.75 T 0.0 P -0.966 T Uncertain 1_160585706_C->T 1 160585706 160585706 C T snp 573.77 0/1 99 50 27 23 0.46 intronic rs151607 SLAMF1 AU NM_003037 exon2 c.1833+3336C>T 0.815495 0.8601 Uncertain 1_160650913_A->G 1 160650913 160650913 A G snp 769.77 1/1 57 24 0 24 1.0 exonic rs4656926 CD48 AU nonsynonymous SNV NM_001256030 exon3 c.T731C p.I244T 0.828674 1 0.9621 0.9996 Pathogenic 1_160650919_C->- 1 160650919 160650919 C - indel 456.73 0/1 99 26 11 15 0.58 exonic rs142100077 CD48 AU frameshift deletion NM_001256030 exon3 c.725delG p.G242fs 0.043131 0.1081 0.0423 0.1291 Pathogenic 1_160654786_G->A 1 160654786 160654786 G A snp 2159.77 0/1 99 191 98 93 0.49 exonic rs1980606 CD48 AU synonymous SNV NM_001256030 exon2 c.C276T p.G92G 0.234425 0.1448 0.247886 0.2238 0.1438 Uncertain 1_160681775_A->G 1 160681775 160681775 A G snp 56.74 1/1 6 2 0 2 1.0 upstream rs352684 CD48 AU 0.6875 0.8115 Uncertain 1_160717872_T->G 1 160717872 160717872 T G snp 174.9 1/1 15 5 0 5 1.0 intronic rs527733 SLAMF7 AU NM_021181 exon2 c.8892-111T>G 0.999601 1 Uncertain 1_160719843_A->C 1 160719843 160719843 A C snp 262.77 0/1 99 53 41 12 0.23 exonic rs117009784 SLAMF7 AU nonsynonymous SNV NM_001282590 exon2 c.A288C p.R96S 0.023762 0.0417 0.003614 0.0155 0.0487 0.69 T 1 N -0.947 T 0.0 T 0.0 T Pathogenic 1_160722064_A->G 1 160722064 160722064 A G snp 781.77 1/1 57 27 0 27 1.0 intronic rs527342 SLAMF7 AU NM_001282596 exon4 c.12947+26A>G 0.908746 0.9683 0.917500 0.9554 0.9722 Uncertain 1_160723049_T->C 1 160723049 160723049 T C snp 507.77 0/1 99 43 23 20 0.47 UTR3 rs2295619 SLAMF7 AU 0.023762 0.0417 Uncertain 1_160771761_C->A 1 160771761 160771761 C A snp 838.77 0/1 99 80 46 34 0.42 UTR3 rs1556517 LY9 AU 0.211462 0.2867 Uncertain 1_160786549_A->G 1 160786549 160786549 A G snp 1628.77 0/1 99 151 79 72 0.48 exonic rs141800928 LY9 AU nonsynonymous SNV NM_001261456 exon5 c.A1238G p.N413S 0.0111821 0.004 0.001461 0.0063 0.0040 0.77 T 1 N -0.935 T 0.37 T 0.191 T Pathogenic 1_160788131_T->C 1 160788131 160788131 T C snp 1299.77 1/1 96 44 0 44 1.0 intronic rs3817407 LY9 AU NM_002348 exon6 c.22132+22T>C 0.35643 0.3373 0.268338 0.2956 0.3751 Uncertain 1_160789196_A->C 1 160789196 160789196 A C snp 3081.77 1/1 99 106 0 106 1.0 intronic rs537540 LY9 AU NM_002348 exon7 c.23187+32A>C 0.992412 1 0.990773 0.9975 1 Uncertain 1_160789308_C->T 1 160789308 160789308 C T snp 220.84 1/1 18 6 0 6 1.0 intronic rs522897 LY9 AU NM_002348 exon7 c.23187+144C>T 0.688299 0.7044 Uncertain 1_160793442_A->G 1 160793442 160793442 A G snp 7487.77 1/1 99 250 1 249 1.0 exonic rs474131 LY9 AU synonymous SNV NM_001261457 exon7 c.A1416G p.V472V 0.632188 0.7034 0.494387 0.5295 0.7304 Uncertain 1_160793560_A->G 1 160793560 160793560 A G snp 6659.77 1/1 99 234 0 234 1.0 exonic rs509749 LY9 AU nonsynonymous SNV NM_001261457 exon7 c.A1534G p.M512V 0.660144 0.7034 0.527910 0.5388 0.7304 1 T 0.0 P -1.011 T 0.0 T 0.0 T Pathogenic 1_160793962_G->C 1 160793962 160793962 G C snp 1565.77 1/1 99 58 0 58 1.0 intronic rs506081 LY9 AU NM_002348 exon9 c.27993-8G>C 0.635982 0.7034 0.500846 0.5310 0.7294 Uncertain 1_160797323_T->G 1 160797323 160797323 T G snp 286.77 0/1 99 18 9 9 0.5 intronic rs577453 LY9 AU NM_002348 exon10 c.31560-214T>G 0.596845 0.6954 Uncertain 1_160797514_C->G 1 160797514 160797514 C G snp 2377.77 0/1 99 209 105 104 0.5 intronic rs576334 LY9 AU NM_002348 exon10 c.31560-23C>G 0.629393 0.6954 0.504690 0.5477 0.7282 Uncertain 1_160797684_A->G 1 160797684 160797684 A G snp 701.77 0/1 99 44 20 24 0.55 UTR3 rs574610 LY9 AU 0.601438 0.6954 Uncertain 1_160803802_A->G 1 160803802 160803802 A G snp 1308.77 1/1 96 41 0 41 1.0 intronic rs11265493 CD244 AU NM_016382 exon3 c.2704-38A>G 0.503195 0.4583 0.531370 0.5865 0.5020 Uncertain 1_160809003_G->A 1 160809003 160809003 G A snp 522.77 1/1 39 16 0 16 1.0 intronic rs6682654 CD244 AU NM_016382 exon6 c.7703+164G>A 0.403754 0.4117 Uncertain 1_160848993_G->A 1 160848993 160848993 G A snp 164.78 0/1 24 6 1 5 0.83 intronic rs3766357 ITLN1 AU NM_017625 exon2 c.2647-107G>A 0.563698 0.6935 Uncertain 1_160849030_T->A 1 160849030 160849030 T A snp 267.77 0/1 99 15 5 10 0.67 intronic rs3766358 ITLN1 AU NM_017625 exon2 c.2647-70T>A 0.578674 0.6935 Uncertain 1_160849060_G->A 1 160849060 160849060 G A snp 493.77 0/1 99 38 20 18 0.47 intronic rs3766359 ITLN1 AU NM_017625 exon2 c.2647-40G>A 0.563299 0.6954 0.558665 0.6431 0.6867 Uncertain 1_160849082_A->G 1 160849082 160849082 A G snp 770.77 0/1 99 66 36 30 0.45 intronic rs3820094 ITLN1 AU NM_017625 exon2 c.2647-18A>G 0.638778 0.6974 0.623866 0.6710 0.6866 Uncertain 1_160849367_G->T 1 160849367 160849367 G T snp 222.77 0/1 99 16 8 8 0.5 intronic rs2274905 ITLN1 AU NM_017625 exon2 c.2751+163G>T 0.563498 0.6935 Uncertain 1_160850280_G->A 1 160850280 160850280 G A snp 506.77 0/1 99 35 16 19 0.54 intronic rs4656957 ITLN1 AU NM_017625 exon3 c.3924-97G>A 0.667332 0.6974 Uncertain 1_160850936_T->C 1 160850936 160850936 T C snp 2969.77 0/1 99 250 135 115 0.46 intronic rs2236515 ITLN1 AU NM_017625 exon4 c.4490-7T>C 0.672324 0.6974 0.661233 0.6830 0.6881 Uncertain 1_160851619_A->G 1 160851619 160851619 A G snp 122.77 0/1 99 10 5 5 0.5 intronic rs10908808 ITLN1 AU NM_017625 exon5 c.5293-127A>G 0.581669 0.6944 Uncertain 1_160851826_A->T 1 160851826 160851826 A T snp 1374.77 0/1 99 82 28 54 0.66 exonic rs2274907 ITLN1 AU nonsynonymous SNV NM_017625 exon4 c.T326A p.V109D 0.58127 0.6935 0.578502 0.6487 0.6884 0.87 T 0.025 P -0.950 T 0.0 T 0.0 T Pathogenic 1_160851894_G->A 1 160851894 160851894 G A snp 1264.77 0/1 99 79 30 49 0.62 exonic rs2274908 ITLN1 AU synonymous SNV NM_017625 exon4 c.C258T p.H86H 0.577875 0.6944 0.575273 0.6475 0.6883 Uncertain 1_160852022_C->T 1 160852022 160852022 C T snp 1184.77 0/1 99 106 52 54 0.51 intronic rs2274909 ITLN1 AU NM_017625 exon5 c.5541+28C>T 0.567492 0.6935 0.564739 0.6441 0.6873 Uncertain 1_160852046_T->C 1 160852046 160852046 T C snp 1076.77 0/1 99 92 48 44 0.48 intronic rs2274910 ITLN1 AU NM_017625 exon5 c.5541+52T>C 0.567492 0.6935 0.562156 0.6442 0.6866 Uncertain 1_160852125_C->T 1 160852125 160852125 C T snp 245.77 0/1 99 24 14 10 0.42 intronic rs11265508 ITLN1 AU NM_017625 exon5 c.5541+131C>T 0.0447284 0.0397 Uncertain 1_160852167_C->T 1 160852167 160852167 C T snp 210.84 1/1 18 6 0 6 1.0 intronic rs6427552 ITLN1 AU NM_017625 exon5 c.5541+173C>T 0.629992 0.7331 Uncertain 1_160853379_A->T 1 160853379 160853379 A T snp 1253.77 0/1 99 132 78 54 0.41 intronic rs11265509 ITLN1 AU NM_017625 exon6 c.6863+63A>T 0.0551118 0.0397 Uncertain 1_160854526_G->A 1 160854526 160854526 G A snp 630.77 1/1 48 17 0 17 1.0 intronic rs2297559 ITLN1 AU NM_017625 exon7 c.8156-83G>A 0.669728 0.7371 Uncertain 1_160854620_T->C 1 160854620 160854620 T C snp 736.77 0/1 99 80 46 34 0.42 exonic rs35779394 ITLN1 AU synonymous SNV NM_017625 exon2 c.A48G p.G16G 0.116813 0.0992 0.076888 0.0492 0.1210 Uncertain 1_160854698_C->T 1 160854698 160854698 C T snp 1778.77 0/1 99 180 102 78 0.43 intronic rs2297560 ITLN1 AU NM_017625 exon7 c.8220+25C>T 0.117013 0.0992 0.077195 0.0488 0.1203 Uncertain 1_160854703_T->C 1 160854703 160854703 T C snp 1937.77 0/1 99 186 105 81 0.44 intronic rs74315633 ITLN1 AU NM_017625 exon7 c.8220+30T>C 0.117013 0.0992 0.074812 0.0487 0.1203 Uncertain 1_160854749_T->C 1 160854749 160854749 T C snp 1836.77 0/1 99 189 103 86 0.46 intronic rs77824633 ITLN1 AU NM_017625 exon7 c.8220+76T>C 0.117013 0.0992 Uncertain 1_160917792_C->T 1 160917792 160917792 C T snp 1278.77 0/1 99 116 64 52 0.45 exonic rs149869952 ITLN2 AU nonsynonymous SNV NM_080878 exon7 c.G752A p.R251Q 0.00399361 0.0198 0.0021 0.0262 0 D 0.721 N -0.895 T 0.998 D 0.942 D Pathogenic 1_160920809_A->G 1 160920809 160920809 A G snp 3090.77 1/1 99 119 0 119 1.0 intronic rs3829790 ITLN2 AU NM_080878 exon5 c.5903-23A>G 0.480431 0.5694 0.470936 0.5377 0.5529 Uncertain 1_160920813_A->G 1 160920813 160920813 A G snp 3176.77 1/1 99 124 0 124 1.0 intronic rs790059 ITLN2 AU NM_080878 exon5 c.5903-19A>G 0.999002 1 0.995387 0.9959 1 Uncertain 1_160920966_C->T 1 160920966 160920966 C T snp 2907.77 1/1 99 100 1 99 0.99 exonic rs6680969 ITLN2 AU nonsynonymous SNV NM_080878 exon4 c.G308A p.R103H 0.488219 0.5635 0.490850 0.5356 0.5507 0.54 T 0.0 P -1.093 T 0.007 T 0.004 T Pathogenic 1_160921230_T->G 1 160921230 160921230 T G snp 571.77 1/1 45 16 0 16 1.0 intronic rs4656971 ITLN2 AU NM_080878 exon5 c.6151+150T>G 0.479433 0.5565 Uncertain 1_160924575_T->G 1 160924575 160924575 T G snp 1174.77 0/1 99 102 52 50 0.49 UTR5 ITLN2 AU Uncertain 1_160969008_-->G 1 160969008 160969008 - G indel 1086.73 1/1 90 35 0 35 1.0 intronic rs3831190 F11R AU NM_016946 exon2 c.221+127insG 0.829473 0.8343 Uncertain 1_160969585_C->T 1 160969585 160969585 C T snp 4525.77 1/1 99 158 1 157 0.99 intronic rs790056 F11R AU NM_016946 exon4 c.877+48C>T 0.841054 0.8343 0.830847 0.8114 0.8570 Uncertain 1_160971146_A->G 1 160971146 160971146 A G snp 1650.77 1/1 99 61 0 61 1.0 splicing rs790055 F11R AU NM_016946 exon9 c.2483+3A>G 0.829872 0.8343 0.822390 0.8049 0.8582 Pathogenic 1_160990875_T->C 1 160990875 160990875 T C snp 4766.77 1/1 99 166 0 166 1.0 UTR5 rs28365980 F11R AU 0.625998 0.6339 0.125557 0.5572 0.6640 Uncertain 1_160990876_C->A 1 160990876 160990876 C A snp 4581.77 1/1 99 161 0 161 1.0 UTR5 rs28365979 F11R AU 0.6252 0.6329 0.045825 0.5526 0.6625 Uncertain 1_160990878_C->T 1 160990878 160990878 C T snp 4493.77 1/1 99 161 0 161 1.0 UTR5 rs28365978 F11R AU 0.6252 0.6329 0.316700 0.5527 0.6623 Uncertain 1_161008572_C->A 1 161008572 161008572 C A snp 946.77 0/1 99 85 42 43 0.51 intronic rs3766383 TSTD1 AU NM_001113206 exon3 c.1105-97C>A 0.384984 0.497 Uncertain 1_161008803_G->T 1 161008803 161008803 G T snp 741.77 0/1 99 76 41 35 0.46 upstream;downstream rs3766382 TSTD1;USF1 UN 0.384385 0.497 Uncertain 1_161010774_A->G 1 161010774 161010774 A G snp 762.77 1/1 57 22 0 22 1.0 intronic rs2516841 USF1 AU NM_007122 exon4 c.953+112A>G 0.78135 0.8294 Uncertain 1_161010791_C->T 1 161010791 161010791 C T snp 126.77 0/1 99 17 11 6 0.35 intronic rs2073657 USF1 AU NM_007122 exon4 c.953+129C>T 0.363818 0.3313 Uncertain 1_161011317_A->G 1 161011317 161011317 A G snp 54.74 1/1 6 2 0 2 1.0 intronic rs2516840 USF1 AU NM_007122 exon5 c.1492+116A>G 0.775958 0.8294 Uncertain 1_161011716_G->C 1 161011716 161011716 G C snp 1202.77 1/1 87 38 0 38 1.0 intronic rs2774276 USF1 AU NM_007122 exon6 c.1927+80G>C 0.78155 0.8284 Uncertain 1_161012760_T->C 1 161012760 161012760 T C snp 1753.77 0/1 99 183 103 80 0.44 intronic rs2073653 USF1 AU NM_007122 exon9 c.2963+88T>C 0.384784 0.495 Uncertain 1_161013121_C->T 1 161013121 161013121 C T snp 626.77 0/1 99 84 55 29 0.35 UTR5 rs2516839 USF1 AU 0.396765 0.3333 0.507884 Uncertain 1_161017556_C->T 1 161017556 161017556 C T snp 1260.77 0/1 99 186 121 65 0.35 exonic rs2774279 ARHGAP30 AU synonymous SNV NM_001287602 exon8 c.G2724A p.R908R 0.218251 0.1389 0.284638 0.2772 0.1471 Uncertain 1_161019040_G->C 1 161019040 161019040 G C snp 2967.77 0/1 99 249 125 124 0.5 exonic rs3813609 ARHGAP30 AU nonsynonymous SNV NM_001287602 exon8 c.C1240G p.L414V 0.395966 0.3333 0.490543 0.5195 0.3314 0.67 T 0.000 P -1.032 T 0.763 T 0.288 P Pathogenic 1_161019621_C->T 1 161019621 161019621 C T snp 201.77 0/1 60 10 2 8 0.8 intronic rs11588189 ARHGAP30 AU NM_001287602 exon2 c.1975+142C>T 0.218051 0.1389 Uncertain 1_161022380_G->A 1 161022380 161022380 G A snp 2434.77 1/1 99 82 0 82 1.0 intronic rs4396136 ARHGAP30 AU NM_001287602 exon6 c.4911-35G>A 0.782947 0.7083 0.812164 0.7712 0.7035 Uncertain 1_161026079_A->T 1 161026079 161026079 A T snp 158.77 0/1 97 9 3 6 0.67 intronic rs7516231 ARHGAP30 AU NM_001025598 exon10 c.8673-98A>T 0.324481 0.3581 Uncertain 1_161043735_A->C 1 161043735 161043735 A C snp 1298.77 1/1 96 38 0 38 1.0 intronic rs4656285 PVRL4 AU NM_030916 exon3 c.1135+150A>C 0.734225 0.6726 Uncertain 1_161043764_G->A 1 161043764 161043764 G A snp 554.77 1/1 42 15 0 15 1.0 intronic rs4656978 PVRL4 AU NM_030916 exon3 c.1135+179G>A 0.72524 0.6617 Uncertain 1_161047126_TATA->- 1 161047126 161047129 TATA - indel 897.73 1/1 42 14 0 14 1.0 intronic rs397823657 PVRL4 AU NM_030916 exon7 c.4792-116_4792-113delTATA 0.777556 0.6647 Uncertain 1_161049358_G->A 1 161049358 161049358 G A snp 2029.77 1/1 99 75 0 75 1.0 intronic rs3820097 PVRL4 AU NM_030916 exon8 c.6929-21G>A 0.860623 0.6756 0.927472 0.8664 0.6737 Uncertain 1_161068240_G->A 1 161068240 161068240 G A snp 108.77 0/1 99 7 3 4 0.57 UTR5 rs3813611 KLHDC9 AU 0.34405 0.4375 Uncertain 1_161068836_A->C 1 161068836 161068836 A C snp 2890.77 0/1 99 250 127 123 0.49 exonic rs11576830 KLHDC9 AU nonsynonymous SNV NM_001007255 exon1 c.A511C p.S171R 0.239217 0.371 0.218026 0.3060 0.3870 0.53 T 0.0 P -1.097 T 0.0 T 0.001 T Pathogenic 1_161089288_C->T 1 161089288 161089288 C T snp 1382.77 0/1 99 119 59 60 0.5 intronic rs182544592 NIT1 AU NM_001185094 exon4 c.365-10C>T 0.00239617 0.0119 0.0006 0.0080 Uncertain 1_161089450_-->TAAACT 1 161089450 161089450 - TAAACT indel 2316.73 0/1 99 60 30 30 0.5 intronic rs111473243 NIT1 AU NM_001185094 exon4 c.469+48insTAAACT 0.357228 0.4494 0.333999 0.3638 0.4211 Uncertain 1_161126975_C->G 1 161126975 161126975 C G snp 1833.77 0/1 99 139 68 71 0.51 intronic rs12031437 UFC1 AU NM_016406 exon3 c.3256-68C>G 0.354633 0.4494 0.348883 Uncertain 1_161136843_C->G 1 161136843 161136843 C G snp 1164.77 0/1 99 111 65 46 0.41 intronic rs2301287 PPOX AD NM_001122764 exon3 c.252-46C>G 0.353435 0.4474 0.341842 0.3717 0.4288 Uncertain 1_161143969_A->G 1 161143969 161143969 A G snp 113.77 0/1 99 9 3 6 0.67 intronic rs11265561 B4GALT3 AU NM_001199874 exon4 c.2234+130A>G 0.353834 0.4514 Uncertain 1_161160872_T->C 1 161160872 161160872 T C snp 31.77 0/1 60 8 6 2 0.25 UTR3 rs34884997 ADAMTS4 AU 0.164736 0.3621 Uncertain 1_161162173_G->A 1 161162173 161162173 G A snp 561.77 1/1 42 16 0 16 1.0 intronic rs7512012 ADAMTS4 AU NM_005099 exon2 c.1103+143G>A 0.708666 0.8859 Uncertain 1_161163021_G->A 1 161163021 161163021 G A snp 379.77 0/1 99 38 16 22 0.58 exonic rs116198355 ADAMTS4 AU synonymous SNV NM_005099 exon7 c.C1893T p.Y631Y 0.00499201 0.0238 0.0025 0.0334 Uncertain 1_161163037_T->C 1 161163037 161163037 T C snp 1054.77 1/1 75 40 0 40 1.0 exonic rs4233367 ADAMTS4 AU nonsynonymous SNV NM_005099 exon7 c.A1877G p.Q626R 0.706869 0.8859 0.602799 0.6623 0.9037 1 T 1.000 P -0.962 T 0.0 T 0.0 T Pathogenic 1_161163633_C->T 1 161163633 161163633 C T snp 3646.77 1/1 99 125 0 125 1.0 intronic rs3813622 ADAMTS4 AU NM_005099 exon4 c.2689+17C>T 0.702476 0.8909 0.587267 0.6489 0.9048 Uncertain 1_161164166_A->G 1 161164166 161164166 A G snp 52.74 1/1 6 2 0 2 1.0 intronic rs11265564 ADAMTS4 AU NM_005099 exon5 c.3084+155A>G 0.714657 0.8909 Uncertain 1_161167698_T->G 1 161167698 161167698 T G snp 1123.77 1/1 84 30 0 30 1.0 intronic rs4589131 ADAMTS4 AU NM_005099 exon9 c.6857-86T>G 0.716254 0.8909 Uncertain 1_161168004_C->T 1 161168004 161168004 C T snp 4597.77 1/1 99 162 0 162 1.0 exonic rs33941127 ADAMTS4 AU synonymous SNV NM_005099 exon1 c.G414A p.S138S 0.365016 0.4494 0.258573 0.2819 0.4985 Uncertain 1_161176137_A->G 1 161176137 161176137 A G snp 2008.77 1/1 99 75 0 75 1.0 intronic rs4656993 NDUFS2 AR,XD,AO NM_004550 exon4 c.4021-59A>G 0.704473 0.8909 Uncertain 1_161184059_-->TG 1 161184059 161184059 - TG indel 876.73 ./1 99 66 2 64 0.97 UTR3 rs10629771 NDUFS2 AR,XD,AO 0.280161 Uncertain 1_161184059_-->TGTG 1 161184059 161184059 - TGTG indel 876.73 ./1 99 66 2 64 0.97 UTR3 rs10629771 NDUFS2 AR,XD,AO 0.104677 Uncertain 1_161184097_A->G 1 161184097 161184097 A G snp 592.77 1/1 45 15 0 15 1.0 UTR3 rs1136224 NDUFS2 AR,XD,AO 0.182109 0.2758 Uncertain 1_161185058_G->T 1 161185058 161185058 G T snp 1548.77 1/1 99 60 0 60 1.0 upstream;downstream rs2070901 FCER1G;NDUFS2 UN 0.390775 0.4464 0.304205 Uncertain 1_161187665_C->T 1 161187665 161187665 C T snp 828.77 1/1 63 25 0 25 1.0 intronic rs2070902 FCER1G AU NM_004106 exon2 c.2664-110C>T 0.367812 0.3968 Uncertain 1_161192846_CACACACA->- 1 161192846 161192853 CACACACA - indel 7648.73 ./1 99 167 3 164 0.98 splicing rs758323947 APOA2 AU,AD NM_001643 exon2 c.646+6_646+13delCACACACA 0.0671 0.1034 Pathogenic 1_161192846_CACACA->- 1 161192846 161192851 CACACA - indel 7648.73 ./1 99 167 3 164 0.98 splicing rs141599125 APOA2 AU,AD NM_001643 exon2 c.646+6_646+11delCACACA 0.2676 0.3239 Pathogenic 1_161196166_A->C 1 161196166 161196166 A C snp 159.77 0/1 99 23 16 7 0.3 UTR5 rs3813628 TOMM40L AU 0.313698 0.5367 Uncertain 1_161197244_C->A 1 161197244 161197244 C A snp 40.77 0/1 69 5 3 2 0.4 intronic rs4233368 TOMM40L AU NM_001286373 exon4 c.861+104C>A 0.36861 0.3631 Uncertain 1_161200487_C->A 1 161200487 161200487 C A snp 742.77 1/1 57 21 0 21 1.0 UTR3 rs4073054 TOMM40L AU 0.765375 0.8998 Uncertain 1_161201350_G->T 1 161201350 161201350 G T snp 67.77 0/1 72 8 4 4 0.5 intronic rs11265567 NR1I3 AU NM_005122 exon4 c.1678+86G>T 0.33746 0.5218 Uncertain 1_161201352_G->A 1 161201352 161201352 G A snp 80.77 0/1 93 7 3 4 0.57 intronic rs11265568 NR1I3 AU NM_005122 exon4 c.1678+88G>A 0.33746 0.5218 Uncertain 1_161202605_G->A 1 161202605 161202605 G A snp 1138.77 0/1 99 116 66 50 0.43 exonic rs2307424 NR1I3 AU synonymous SNV NM_005122 exon5 c.C540T p.P180P 0.336262 0.5188 0.269875 0.3534 0.5363 Uncertain 1_161204906_G->A 1 161204906 161204906 G A snp 149.03 1/1 12 7 0 7 1.0 intronic rs3123553 NR1I3 AU NM_005122 exon7 c.6050-730G>A 0.505591 0.5744 Uncertain 1_161205898_G->T 1 161205898 161205898 G T snp 215.77 0/1 99 18 10 8 0.44 intronic rs6686001 NR1I3 AU NM_005122 exon7 c.6181+131G>T 0.133387 0.2262 Uncertain 1_161228843_G->A 1 161228843 161228843 G A snp 154.77 0/1 99 15 8 7 0.47 intronic rs16832733 PCP4L1 AU NM_001102566 exon1 c.9+70G>A 0.112021 0.2718 Uncertain 1_161253657_C->T 1 161253657 161253657 C T snp 83.77 0/1 72 7 3 4 0.57 intronic rs4255401 PCP4L1 AU NM_001102566 exon2 c.24748+145C>T 0.531949 0.6567 Uncertain 1_161276376_G->A 1 161276376 161276376 G A snp 702.77 0/1 99 55 26 29 0.53 intronic rs6685495 MPZ AR,AD NM_000530 exon4 c.832-121G>A 0.220248 0.1399 Uncertain 1_161276434_A->G 1 161276434 161276434 A G snp 1112.77 1/1 81 36 0 36 1.0 intronic rs6674383 MPZ AR,AD NM_000530 exon4 c.832-63A>G 1 1 Uncertain 1_161284224_-->GT 1 161284224 161284224 - GT indel 4790.73 0/1 99 222 103 119 0.54 intronic rs35215598 SDHC AU,AD,AO NM_003001 exon1 c.20+9insGT 0.169728 0.2133 0.112362 0.1053 0.1994 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000037724.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 1_161284297_T->C 1 161284297 161284297 T C snp 2303.77 0/1 99 201 96 105 0.52 intronic rs11265589 SDHC AU,AD,AO NM_003001 exon1 c.20+82T>C 0.106629 0.1478 0.070959 Uncertain 1_161293193_C->T 1 161293193 161293193 C T snp 287.77 0/1 99 22 12 10 0.45 intronic rs386457183 SDHC AU,AD,AO NM_003001 exon2 c.9208-210C>T 0.169529 0.2133 Uncertain 1_161293215_A->G 1 161293215 161293215 A G snp 276.77 0/1 99 34 23 11 0.32 intronic rs4622080 SDHC AU,AD,AO NM_003001 exon2 c.9208-188A>G 0.169529 0.2133 Uncertain 1_161293308_C->T 1 161293308 161293308 C T snp 789.77 0/1 99 91 56 35 0.38 intronic rs4255403 SDHC AU,AD,AO NM_003001 exon2 c.9208-95C>T 0.236621 0.2133 Uncertain 1_161309173_A->G 1 161309173 161309173 A G snp 324.77 0/1 99 26 12 14 0.54 intronic rs56868836 SDHC AU,AD,AO NM_003001 exon4 c.26188-1210A>G 0.16853 0.2123 Uncertain 1_161309192_C->T 1 161309192 161309192 C T snp 397.77 0/1 99 35 19 16 0.46 intronic rs59774375 SDHC AU,AD,AO NM_003001 exon4 c.26188-1191C>T 0.16853 0.2123 Uncertain 1_161310519_C->T 1 161310519 161310519 C T snp 2575.77 0/1 99 241 129 112 0.46 intronic rs9970904 SDHC AU,AD,AO NM_003001 exon4 c.26250+74C>T 0.16873 0.2123 Uncertain 1_161334735_G->A 1 161334735 161334735 G A snp 346.77 0/1 99 23 9 14 0.61 UTR3 rs16832869 CFAP126 AU 0.169129 0.2123 0.110949 0.1047 0.2007 Uncertain 1_161334989_G->A 1 161334989 161334989 G A snp 678.77 0/1 99 52 26 26 0.5 intronic rs201952864 CFAP126 AU NM_001013625 exon1 c.186+49G>A 0.000199681 0.001 1.701e-05 0.0002 Uncertain 1_161335281_T->A 1 161335281 161335281 T A snp 990.77 0/1 99 102 56 46 0.45 intronic rs13374037 CFAP126 AU NM_001013625 exon2 c.561-34T>A 0.16893 0.2123 0.110641 0.1049 0.2006 Uncertain 1_161335955_A->C 1 161335955 161335955 A C snp 1030.77 0/1 99 95 46 49 0.52 intronic rs16832874 CFAP126 AU NM_001013625 exon3 c.1233-32A>C 0.16893 0.2123 0.110872 0.1049 0.2009 Uncertain 1_161337509_A->G 1 161337509 161337509 A G snp 653.77 0/1 99 39 20 19 0.49 intronic rs10494351 CFAP126 AU NM_001013625 exon5 c.2877-122A>G 0.16893 0.2123 Uncertain 1_161337604_G->A 1 161337604 161337604 G A snp 2305.77 0/1 99 205 100 105 0.51 intronic rs41270861 CFAP126 AU NM_001013625 exon5 c.2877-27G>A 0.16893 0.2123 0.110872 0.1046 0.2006 Uncertain 1_161483579_C->T 1 161483579 161483579 C T snp 68.77 0/1 97 58 38 20 0.34 intronic rs383958 FCGR2A AU,AD,AR NM_021642 exon6 c.8427-105C>T Uncertain 1_161495477_A->T 1 161495477 161495477 A T snp 1926.77 0/1 99 233 141 92 0.39 exonic rs17853454 HSPA6 AU synonymous SNV NM_002155 exon1 c.A1029T p.T343T 0.653083 0.6432 0.6876 Uncertain 1_161495885_T->C 1 161495885 161495885 T C snp 1994.77 0/1 99 157 76 81 0.52 exonic rs404508 HSPA6 AU synonymous SNV NM_002155 exon1 c.T1437C p.T479T 0.801118 0.9117 0.765570 0.7705 0.9314 Uncertain 1_161518159_C->T 1 161518159 161518159 C T snp 431.77 0/1 99 140 107 33 0.24 intronic rs200225944 FCGR3A AR NM_000569 exon3 c.5409-51C>T Uncertain 1_161518214_T->C 1 161518214 161518214 T C snp 906.77 0/1 99 250 182 68 0.27 exonic rs148181339 FCGR3A AR nonsynonymous SNV NM_000569 exon3 c.A424G p.I142V 0.2987 0.4424 0.91 T 1 N -0.978 T 0.0 T 0.0 T CLINSIG=untested;CLNDBN=not_provided;CLNREVSTAT=no_assertion_provided;CLNACC=RCV000144415.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Pathogenic 1_161518336_C->T 1 161518336 161518336 C T snp 1862.77 0/1 99 248 159 89 0.36 exonic rs77144485 FCGR3A AR nonsynonymous SNV NM_000569 exon3 c.G302A p.S101N 0.1015 0.2076 0.42 T 1 N -1.034 T 0.164 T 0.039 T CLINSIG=untested;CLNDBN=not_provided;CLNREVSTAT=no_assertion_provided;CLNACC=RCV000144414.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Pathogenic 1_161559256_C->T 1 161559256 161559256 C T snp 696.77 0/1 99 34 10 24 0.71 intronic rs114945036 FCGR2C AD NM_201563 exon3 c.8124-95C>T 0.245008 0.1716 Uncertain 1_161559327_A->G 1 161559327 161559327 A G snp 3626.77 1/1 99 125 0 125 1.0 intronic rs3933769 FCGR2C AD NM_201563 exon3 c.8124-24A>G 0.702476 0.7341 0.682799 0.7391 0.7605 Uncertain 1_161559571_C->T 1 161559571 161559571 C T snp 1336.77 0/1 99 91 39 52 0.57 exonic rs138747765 FCGR2C AD unknown 0.19389 0.1716 0.210807 0.2749 0.1691 Uncertain 1_161561151_G->A 1 161561151 161561151 G A snp 1770.77 0/1 73 181 73 108 0.6 exonic rs74341264 FCGR2C AD unknown 0.198882 0.4067 0.090952 0.1253 0.4215 Uncertain 1_161561287_A->G 1 161561287 161561287 A G snp 584.77 1/1 48 30 0 30 1.0 intronic rs2125686 FCGR2C AD NM_201563 exon4 c.9961+99A>G 0.994409 1 Uncertain 1_161565324_C->T 1 161565324 161565324 C T snp 3851.77 1/1 99 204 1 203 1.0 intronic rs61801822 FCGR2C AD NM_201563 exon6 c.14115-18C>T 0.699081 0.7272 0.7411 0.7452 Uncertain 1_161565408_T->C 1 161565408 161565408 T C snp 3593.77 0/1 99 250 81 169 0.68 intronic rs114010589 FCGR2C AD NM_201563 exon6 c.14153+28T>C 0.211661 0.4167 0.075304 0.1387 0.4418 0.0 P -1.031 T Uncertain 1_161565479_G->A 1 161565479 161565479 G A snp 6680.77 1/1 99 235 0 235 1.0 intronic rs111504845 FCGR2C AD NM_201563 exon6 c.14153+99G>A 0.441893 0.62 0.4006 0.6319 Uncertain 1_161565604_G->A 1 161565604 161565604 G A snp 527.77 0/1 99 27 10 17 0.63 intronic rs147165343 FCGR2C AD NM_201563 exon6 c.14153+224G>A 0.157947 0.3403 Uncertain 1_161569419_C->G 1 161569419 161569419 C G snp 3250.77 1/1 99 182 0 182 1.0 splicing rs430178 FCGR2C AD NM_201563 exon7 c.18192C>G 0.741414 0.6766 0.4234 0.3522 Pathogenic 1_161576196_C->G 1 161576196 161576196 C G snp 192.77 0/1 99 169 111 58 0.34 ncRNA_exonic rs778912907 HSPA7 AU 0.0004 0.0072 Uncertain 1_161576227_C->G 1 161576227 161576227 C G snp 2924.77 1/1 99 216 34 182 0.84 ncRNA_exonic rs145679054 HSPA7 AU 0.661941 0.6567 0.7183 0.6912 Uncertain 1_161577657_G->A 1 161577657 161577657 G A snp 1095.77 0/1 99 187 139 48 0.26 ncRNA_exonic rs61802306 HSPA7 AU 0.286142 0.2728 Uncertain 1_161577669_G->A 1 161577669 161577669 G A snp 5100.77 1/1 99 178 1 177 0.99 ncRNA_exonic rs61802307 HSPA7 AU 0.662141 0.6577 Uncertain 1_161594226_C->T 1 161594226 161594226 C T snp 3064.77 1/1 99 97 0 97 1.0 UTR3 rs61803008 FCGR3B AU 0.895966 0.7411 Uncertain 1_161594246_G->T 1 161594246 161594246 G T snp 4177.77 1/1 99 137 1 136 0.99 UTR3 rs61803009 FCGR3B AU 0.895966 0.7411 Uncertain 1_161594525_G->C 1 161594525 161594525 G C snp 1185.77 1/1 90 33 0 33 1.0 intronic rs61803010 FCGR3B AU NM_001271036 exon1 c.125+96G>C 0.895767 0.7411 Uncertain 1_161594526_T->G 1 161594526 161594526 T G snp 1108.77 1/1 84 31 0 31 1.0 intronic rs61803011 FCGR3B AU NM_001271036 exon1 c.125+97T>G 0.895367 0.7411 Uncertain 1_161594561_C->G 1 161594561 161594561 C G snp 303.78 1/1 24 8 0 8 1.0 intronic rs61803012 FCGR3B AU NM_001271036 exon1 c.125+132C>G 0.868411 0.7421 Uncertain 1_161596283_G->A 1 161596283 161596283 G A snp 942.77 1/1 69 27 0 27 1.0 intronic rs41508344 FCGR3B AU NM_001271036 exon2 c.1888+91G>A 0.871805 0.745 Uncertain 1_161599529_C->T 1 161599529 161599529 C T snp 458.77 0/1 99 108 73 35 0.32 intronic rs202089363 FCGR3B AU NM_001271036 exon3 c.5263-38C>T 0.00738818 0.0337 0.0046 0.0477 Uncertain 1_161599693_T->C 1 161599693 161599693 T C snp 4966.77 1/1 99 250 21 229 0.92 exonic rs448740 FCGR3B AU nonsynonymous SNV NM_000570 exon4 c.A194G p.N65S 0.532947 0.3383 0.5887 0.3522 0.94 T 0.0 P -0.925 T CLINSIG=pathogenic;CLNDBN=Neutrophil-specific_antigens_na1/na2;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000030607.1;CLNDSDB=.;CLNDSDBID=. Pathogenic 1_161600345_C->T 1 161600345 161600345 C T snp 100.77 0/1 99 7 3 4 0.57 intronic rs145831350 FCGR3B AU NM_001271036 exon4 c.5874+167C>T 0.464657 0.3393 Uncertain 1_161600832_G->T 1 161600832 161600832 G T snp 258.77 0/1 99 15 7 8 0.53 intronic rs3883934 FCGR3B AU NM_001271036 exon5 c.6533-5G>T 0.5002 0.3393 0.608294 0.6104 0.3922 Uncertain 1_161600995_C->T 1 161600995 161600995 C T snp 991.77 0/1 99 204 150 54 0.26 intronic rs34085961 FCGR3B AU NM_000570 exon5 c.6624+67C>T 0.445088 0.6627 0.4224 0.6341 Uncertain 1_161601118_G->C 1 161601118 161601118 G C snp 684.77 0/1 99 40 19 21 0.53 intronic rs61803026 FCGR3B AU NM_001244753 exon5 c.6948-134G>C 0.48742 0.7202 Uncertain 1_161601133_T->C 1 161601133 161601133 T C snp 1011.77 1/1 75 29 0 29 1.0 intronic rs61803027 FCGR3B AU NM_001244753 exon5 c.6948-119T>C 0.96905 1 Uncertain 1_161641384_G->A 1 161641384 161641384 G A snp 788.77 0/1 99 65 34 31 0.48 exonic rs6665610 FCGR2B AU,AD synonymous SNV NM_004001 exon3 c.G336A p.T112T 0.138179 0.0595 0.182948 0.1504 0.0616 Uncertain 1_161642982_G->A 1 161642982 161642982 G A snp 1140.77 0/1 99 250 185 65 0.26 exonic rs146214041 FCGR2B AU,AD synonymous SNV NM_004001 exon4 c.G609A p.T203T 0.029353 0.0565 0.0043 0.0141 Uncertain 1_161643044_A->G 1 161643044 161643044 A G snp 1558.77 0/1 99 236 110 126 0.53 intronic rs2125685 FCGR2B AU,AD NM_001190828 exon3 c.9988+25A>G 0.402356 0.4752 0.096649 0.0998 0.1556 Uncertain 1_161643327_C->G 1 161643327 161643327 C G snp 186.77 0/1 99 45 29 16 0.36 intronic rs112516248 FCGR2B AU,AD NM_001190828 exon3 c.9988+308C>G 0.0978435 0.0565 0.0138 0.0042 Uncertain 1_161643663_C->T 1 161643663 161643663 C T snp 86.77 0/1 99 102 85 17 0.17 intronic rs7552498 FCGR2B AU,AD NM_001190828 exon4 c.10718-86C>T 0.223043 0.0585 Uncertain 1_161645259_T->G 1 161645259 161645259 T G snp 43.77 0/1 72 4 2 2 0.5 intronic rs1674759 FCGR2B AU,AD NM_001190828 exon5 c.12072+156T>G 0.792532 0.7808 Uncertain 1_161676904_T->C 1 161676904 161676904 T C snp 586.77 1/1 45 16 0 16 1.0 UTR5 rs1340977 FCRLA AU 0.616014 0.8254 Uncertain 1_161676970_A->G 1 161676970 161676970 A G snp 1385.77 1/1 99 54 0 54 1.0 UTR5 rs1340978 FCRLA AU 0.639177 0.8254 0.636245 0.6330 0.8317 Uncertain 1_161680258_G->A 1 161680258 161680258 G A snp 3580.77 1/1 99 125 0 125 1.0 intronic rs6427618 FCRLA AU NM_001184866 exon2 c.3261-6G>A 0.443091 0.3601 0.5972 0.3534 Uncertain 1_161680868_T->C 1 161680868 161680868 T C snp 90.28 1/1 9 3 0 3 1.0 intronic rs1934908 FCRLA AU NM_001184866 exon4 c.3994-129T>C 0.300719 0.2401 Uncertain 1_161683136_G->A 1 161683136 161683136 G A snp 3553.77 1/1 99 127 2 125 0.98 exonic rs11746 FCRLA AU nonsynonymous SNV NM_001184871 exon2 c.G392A p.R131Q 0.297125 0.2371 0.359603 0.4183 0.2600 0.34 T 0.0 P -1.012 T 0.121 T 0.014 T Pathogenic 1_161695639_G->T 1 161695639 161695639 G T snp 3758.77 1/1 99 146 3 143 0.98 exonic rs7520519 FCRLB AU synonymous SNV NM_001288830 exon3 c.G315T p.A105A 0.927716 1 0.901584 0.8849 0.9979 Uncertain 1_161696088_T->C 1 161696088 161696088 T C snp 6761.77 1/1 99 248 0 248 1.0 intronic rs1417582 FCRLB AU NM_001288831 exon4 c.3415+211T>C 0.581869 0.8026 0.5910 0.8021 Uncertain 1_161696782_G->C 1 161696782 161696782 G C snp 1320.77 1/1 96 48 0 48 1.0 exonic rs11585450 FCRLB AU nonsynonymous SNV NM_001288830 exon4 c.G698C p.R233P 0.314497 0.2629 0.367189 0.4900 0.3420 0.18 T 1.000 P -1.036 T 0.0 T 0.003 T Pathogenic 1_161696998_C->G 1 161696998 161696998 C G snp 148.77 0/1 99 11 5 6 0.55 intronic rs1875763 FCRLB AU NM_001288831 exon6 c.4574-38C>G 0.322085 0.2401 0.388112 0.4443 0.2695 Uncertain 1_161721351_A->G 1 161721351 161721351 A G snp 176.9 1/1 15 5 0 5 1.0 intronic rs7540096 DUSP12 AU NM_007240 exon2 c.1866-106A>G 0.58147 0.7034 Uncertain 1_161721707_C->T 1 161721707 161721707 C T snp 284.77 0/1 99 29 16 13 0.45 exonic rs1063178 DUSP12 AU synonymous SNV NM_007240 exon3 c.C510T p.Y170Y 0.360024 0.4831 0.353990 0.3399 0.4780 Uncertain 1_161722204_C->T 1 161722204 161722204 C T snp 794.77 0/1 99 77 38 39 0.51 exonic rs1063179 DUSP12 AU synonymous SNV NM_007240 exon4 c.C624T p.T208T 0.170727 0.2192 0.142495 0.0780 0.2251 Uncertain 1_161722779_-->AAA 1 161722779 161722779 - AAA indel 826.73 1/1 57 19 0 19 1.0 intronic rs35439833 DUSP12 AU NM_007240 exon5 c.3273-85insAAA 0.59405 0.5635 Uncertain 1_161736035_A->G 1 161736035 161736035 A G snp 1084.77 1/1 78 39 0 39 1.0 UTR5 rs2298019 ATF6 AR 0.91234 0.875 Uncertain 1_161751741_A->G 1 161751741 161751741 A G snp 976.77 0/1 99 71 27 44 0.62 exonic rs1058405 ATF6 AR nonsynonymous SNV NM_007348 exon3 c.A199G p.M67V 0.166933 0.2629 0.211825 0.2360 0.2926 0.31 T 0.046 P -1.043 T 0.049 T 0.039 T ID=CM077506;DIS=Fasting plasma glucose levels, association with;TAG=DFP;PUB=17440018 DFP Pathogenic 1_161822959_C->T 1 161822959 161822959 C T snp 101.28 1/1 9 4 0 4 1.0 intronic rs2340717 ATF6 AR NM_007348 exon12 c.86863-54C>T 0.966054 1 Uncertain 1_161823011_T->A 1 161823011 161823011 T A snp 322.77 0/1 99 26 14 12 0.46 splicing rs2257107 ATF6 AR NM_007348 exon12 c.86863-2T>A 0.400958 0.3056 0.493847 0.6184 0.4452 Pathogenic 1_161823197_-->T 1 161823197 161823197 - T indel 2345.73 0/1 99 141 69 72 0.51 intronic rs3215134 ATF6 AR NM_007348 exon12 c.86963+84insT 0.607428 0.6329 Uncertain 1_161928327_A->G 1 161928327 161928327 A G snp 2801.77 1/1 99 107 1 106 0.99 exonic rs9482 ATF6 AR synonymous SNV NM_007348 exon16 c.A1896G p.S632S 0.558706 0.506 0.649469 0.6540 0.5405 Uncertain 1_161953402_G->A 1 161953402 161953402 G A snp 577.77 0/1 99 38 21 17 0.45 UTR3 rs12407643 OLFML2B AU 0.0772764 0.2411 Uncertain 1_161954448_C->T 1 161954448 161954448 C T snp 72.77 0/1 69 5 2 3 0.6 intronic rs12726227 OLFML2B AU NM_001297713 exon2 c.1129-145C>T 0.329673 0.2163 Uncertain 1_161967681_A->G 1 161967681 161967681 A G snp 6246.77 1/1 99 233 1 232 1.0 exonic rs2499836 OLFML2B AU nonsynonymous SNV NM_001297713 exon6 c.T1411C p.W471R 0.633187 0.6587 0.654160 0.6577 0.6543 0.56 T 1.000 P -1.082 T 0.0 T 0.0 T Pathogenic 1_161968297_T->G 1 161968297 161968297 T G snp 182.9 1/1 15 5 0 5 1.0 intronic rs12756866 OLFML2B AU NM_001297713 exon3 c.14675+158T>G 0.51897 0.5089 Uncertain 1_161976234_A->G 1 161976234 161976234 A G snp 1043.77 0/1 99 114 63 51 0.45 exonic rs12022536 OLFML2B AU synonymous SNV NM_001297713 exon4 c.T576C p.N192N 0.590655 0.4583 0.717438 0.7328 0.4770 Uncertain 1_161976272_-->A 1 161976272 161976272 - A indel 2083.73 1/1 99 92 2 90 0.98 intronic rs34863451 OLFML2B AU NM_001297713 exon5 c.22799+9insA 0.729433 0.7778 0.727599 0.7165 0.7045 Uncertain 1_162257033_C->G 1 162257033 162257033 C G snp 589.77 0/1 99 55 29 26 0.47 intronic rs10800405 NOS1AP AU NM_014697 exon3 c.217166-100C>G 0.383586 0.6151 Uncertain 1_162313518_A->G 1 162313518 162313518 A G snp 1174.77 0/1 99 93 43 50 0.54 intronic rs3751285 NOS1AP AU NM_014697 exon6 c.273657-106A>G 0.354433 0.5556 Uncertain 1_162313597_T->C 1 162313597 162313597 T C snp 5012.77 1/1 99 180 0 180 1.0 intronic rs347278 NOS1AP AU NM_014697 exon6 c.273657-27T>C 0.925919 1 0.919345 0.9656 1 Uncertain 1_162313735_C->T 1 162313735 162313735 C T snp 3548.77 1/1 99 128 0 128 1.0 exonic rs3751284 NOS1AP AU synonymous SNV NM_014697 exon6 c.C564T p.S188S 0.430911 0.6339 0.334307 0.4072 0.6054 Uncertain 1_162335052_C->T 1 162335052 162335052 C T snp 2161.77 1/1 99 69 0 69 1.0 intronic rs905721 NOS1AP AU NM_014697 exon9 c.295226-141C>T 0.315495 0.5437 Uncertain 1_162335424_T->C 1 162335424 162335424 T C snp 571.77 1/1 45 15 0 15 1.0 intronic rs1964052 NOS1AP AU NM_014697 exon9 c.295392+65T>C 0.719249 0.873 Uncertain 1_162343774_A->G 1 162343774 162343774 A G snp 2283.77 0/1 99 167 69 98 0.59 UTR3 rs7512126 C1orf111 AU 0.353035 0.5099 Uncertain 1_162344102_C->T 1 162344102 162344102 C T snp 2012.77 0/1 99 191 108 83 0.43 exonic rs2282397 C1orf111 AU synonymous SNV NM_182581 exon3 c.G522A p.R174R 0.340455 0.5089 0.322390 0.3674 0.5026 Uncertain 1_162344390_A->G 1 162344390 162344390 A G snp 4028.77 1/1 99 132 0 132 1.0 exonic rs164159 C1orf111 AU synonymous SNV NM_182581 exon3 c.T234C p.D78D 0.996206 1 0.995464 0.9989 1 Uncertain 1_162345091_G->A 1 162345091 162345091 G A snp 1874.77 1/1 99 64 0 64 1.0 exonic rs164181 C1orf111 AU nonsynonymous SNV NM_182581 exon2 c.C206T p.A69V 0.938498 1 0.935338 0.9788 1 1 T 1.000 P -0.954 T 0.0 T 0.0 T Pathogenic 1_162346434_A->- 1 162346434 162346434 A - indel 1428.73 0/1 99 108 50 58 0.54 intronic rs150155141 C1orf111 AU NM_182581 exon3 c.2640-43delA 0.285543 0.504 0.3814 0.5298 Uncertain 1_162348662_C->T 1 162348662 162348662 C T snp 523.77 1/1 39 15 0 15 1.0 upstream rs164188 C1orf226 AU 0.995807 1 0.995182 0.9986 1 Uncertain 1_162351455_G->T 1 162351455 162351455 G T snp 54.74 1/1 6 2 0 2 1.0 intronic rs1984871 C1orf226 AU NM_001135240 exon2 c.2977-225G>T 0.161542 0.3631 Uncertain 1_162352819_A->G 1 162352819 162352819 A G snp 106.77 0/1 62 6 2 4 0.67 intronic rs1123005 C1orf226 AU NM_001135240 exon3 c.4268-152A>G 0.221246 0.3641 Uncertain 1_162367235_G->A 1 162367235 162367235 G A snp 2295.77 1/1 99 70 0 70 1.0 intronic rs164124 SH2D1B AU NM_053282 exon1 c.36+130G>A 0.58726 0.7619 Uncertain 1_162372718_G->A 1 162372718 162372718 G A snp 86.28 1/1 9 3 0 3 1.0 intronic rs3121196 SH2D1B AU NM_053282 exon3 c.5523+126G>A 0.879593 0.8413 Uncertain 1_162467014_C->G 1 162467014 162467014 C G snp 2284.77 1/1 99 80 0 80 1.0 UTR5 rs10919549 UHMK1 AU 0.429313 0.4683 0.4322 0.4844 Uncertain 1_162722846_C->G 1 162722846 162722846 C G snp 1175.77 1/1 87 42 0 42 1.0 intronic rs1632311 DDR2 AR NM_006182 exon4 c.34031-38C>G 0.970447 1 0.973012 0.9923 1 Uncertain 1_162725655_A->C 1 162725655 162725655 A C snp 584.77 1/1 45 15 0 15 1.0 intronic rs1115570 DDR2 AR NM_006182 exon7 c.36706+96A>C 0.927915 0.9603 Uncertain 1_162731404_C->T 1 162731404 162731404 C T snp 307.78 1/1 24 8 0 8 1.0 intronic rs2684867 DDR2 AR NM_006182 exon9 c.42391+160C>T 0.971246 1 Uncertain 1_162737116_C->G 1 162737116 162737116 C G snp 348.77 0/1 99 50 32 18 0.36 exonic rs2298258 DDR2 AR synonymous SNV NM_006182 exon11 c.C1260G p.L420L 0.348442 0.4077 0.257266 0.2242 0.4040 0 D 0.718 P -0.552 T Likely benign 1_162740327_T->C 1 162740327 162740327 T C snp 7199.77 1/1 99 245 0 245 1.0 intronic rs1780003 DDR2 AR NM_006182 exon12 c.51449+25T>C 0.945487 1 0.947563 0.9855 0.9999 1.000 P -1.062 T Uncertain 1_162742180_T->C 1 162742180 162742180 T C snp 896.77 1/1 66 28 0 28 1.0 intronic rs1704762 DDR2 AR NM_006182 exon13 c.53184+143T>C 0.945487 1 Uncertain 1_162743418_G->T 1 162743418 162743418 G T snp 1867.77 1/1 99 67 0 67 1.0 intronic rs1355287 DDR2 AR NM_006182 exon14 c.54533+32G>T 0.992412 1 0.994772 0.9986 1 Uncertain 1_162748588_C->A 1 162748588 162748588 C A snp 1265.77 1/1 93 38 0 38 1.0 intronic rs907074 DDR2 AR NM_006182 exon17 c.59666+69C>A 0.96885 1 Uncertain 1_162749761_T->C 1 162749761 162749761 T C snp 425.77 1/1 33 11 0 11 1.0 intronic rs1510315 DDR2 AR NM_006182 exon18 c.61048-140T>C 0.945487 1 Uncertain 1_162754049_G->A 1 162754049 162754049 G A snp 221.77 0/1 99 20 11 9 0.45 intergenic rs11338 DDR2 AR 0.53135 0.5764 Uncertain 1_162754244_T->G 1 162754244 162754244 T G snp 822.77 1/1 63 36 0 36 1.0 intergenic rs2257976 DDR2 AR 0.945687 1 Uncertain 1_162760551_C->T 1 162760551 162760551 C T snp 1715.77 0/1 99 141 71 70 0.5 UTR5 rs1704754 HSD17B7 AU 0.53135 0.5764 0.7140 0.6193 Uncertain 1_162760554_T->C 1 162760554 162760554 T C snp 3872.77 1/1 99 145 0 145 1.0 UTR5 rs1780010 HSD17B7 AU 0.945887 1 0.9807 0.9991 Uncertain 1_162765475_G->C 1 162765475 162765475 G C snp 3911.77 1/1 99 176 1 175 0.99 intronic rs2684884 HSD17B7 AU NM_001304512 exon3 c.5784-899G>C 0.945687 1 0.9868 1 Uncertain 1_162766476_C->T 1 162766476 162766476 C T snp 3015.77 0/1 99 216 93 123 0.57 intronic rs1780019 HSD17B7 AU NM_001304512 exon3 c.5877+9C>T 0.534145 0.5645 0.625019 0.6990 0.5739 Uncertain 1_162774236_A->G 1 162774236 162774236 A G snp 331.77 0/1 99 36 22 14 0.39 intronic rs11590943 HSD17B7 AU NM_016371 exon7 c.13523+123A>G 0.209864 0.2282 Uncertain 1_162775267_C->T 1 162775267 162775267 C T snp 1436.77 0/1 99 161 97 64 0.4 exonic rs12563263 HSD17B7 AU synonymous SNV NM_016371 exon8 c.C888T p.Y296Y 0.182907 0.1369 0.274615 0.2732 0.1776 Uncertain 1_162787243_T->A 1 162787243 162787243 T A snp 313.77 0/1 99 61 31 30 0.49 intergenic rs2803865 HSD17B7 AU 0.440296 0.3552 Uncertain 1_162822771_A->C 1 162822771 162822771 A C snp 670.77 0/1 99 48 24 24 0.5 intergenic rs2684878 HSD17B7 AU 0.772963 0.5823 0.8511 0.5884 Uncertain 1_163038613_C->A 1 163038613 163038613 C A snp 285.77 0/1 99 21 11 10 0.48 UTR5 rs7515900 RGS4 AU 0.454872 0.4335 Uncertain 1_163038853_G->A 1 163038853 163038853 G A snp 216.77 0/1 99 32 19 13 0.41 intronic rs10917671 RGS4 AU NM_001102445 exon1 c.58+71G>A 0.455671 0.4355 0.437336 Uncertain 1_163117351_G->T 1 163117351 163117351 G T snp 767.77 0/1 99 50 21 29 0.58 intronic rs3768560 RGS5 AO NM_001254748 exon1 c.162+58G>T 0.375799 0.4563 Uncertain 1_163122528_G->C 1 163122528 163122528 G C snp 312.77 0/1 99 31 18 13 0.42 intronic rs1354939 RGS5 AO NM_001254748 exon2 c.5375+22G>C 0.557508 0.623 0.513385 0.6454 0.6320 Uncertain 1_163137907_T->A 1 163137907 163137907 T A snp 503.77 0/1 99 45 20 25 0.56 ncRNA_intronic rs16850057 LOC101928404 AU 0.246805 0.2827 Uncertain 1_163142537_G->A 1 163142537 163142537 G A snp 200.8 0/1 21 9 1 8 0.89 ncRNA_intronic rs10917691 LOC101928404 AU 0.334065 0.4236 Uncertain 1_163142555_G->A 1 163142555 163142555 G A snp 49.77 0/1 33 4 1 3 0.75 ncRNA_intronic rs12035879 LOC101928404 AU 0.322684 0.3988 Uncertain 1_163172574_G->C 1 163172574 163172574 G C snp 1743.77 0/1 99 152 74 78 0.51 ncRNA_intronic rs2292270 LOC101928404 AU 0.0928514 0.0397 0.133169 0.1427 0.0387 Uncertain 1_163187263_G->A 1 163187263 163187263 G A snp 198.77 0/1 99 26 17 9 0.35 intronic rs2814368 RGS5 AO NM_001254749 exon5 c.55832+14300G>A 0.701877 0.4246 Uncertain 1_163297322_A->C 1 163297322 163297322 A C snp 1089.77 0/1 99 95 47 48 0.51 exonic rs16852612 NUF2 AU synonymous SNV NM_031423 exon3 c.A168C p.V56V 0.0780751 0.0238 0.129248 0.1411 0.0297 Uncertain 1_163297381_G->A 1 163297381 163297381 G A snp 476.77 0/1 99 48 27 21 0.44 intronic rs12691496 NUF2 AU NM_031423 exon3 c.1511+29G>A 0.122204 0.0228 0.169153 0.1653 0.0299 Uncertain 1_163298548_T->C 1 163298548 163298548 T C snp 535.77 0/1 99 33 12 21 0.64 intronic rs2271226 NUF2 AU NM_031423 exon5 c.2794-87T>C 0.122204 0.0228 Uncertain 1_163306431_G->T 1 163306431 163306431 G T snp 152.77 0/1 98 8 3 5 0.63 intronic rs7541849 NUF2 AU NM_031423 exon6 c.10699-109G>T 0.122604 0.0228 Uncertain 1_163309302_C->T 1 163309302 163309302 C T snp 3287.77 1/1 99 115 0 115 1.0 intronic rs2999852 NUF2 AU NM_031423 exon8 c.13426+35C>T 0.890176 0.9722 0.882882 0.9388 0.9805 Uncertain 1_163313539_C->T 1 163313539 163313539 C T snp 148.77 0/1 99 19 10 9 0.47 exonic rs11802875 NUF2 AU nonsynonymous SNV NM_031423 exon10 c.C686T p.S229L 0.124002 0.0228 0.161955 0.1767 0.0314 0.3 T 0.727 P -1.025 T 0.861 T 0.062 P Pathogenic 1_163317427_T->C 1 163317427 163317427 T C snp 43.77 0/1 70 4 2 2 0.5 intronic rs2292271 NUF2 AU NM_031423 exon12 c.21711-125T>C 0.552716 0.374 Uncertain 1_164529120_G->A 1 164529120 164529120 G A snp 586.77 0/1 99 79 49 30 0.38 exonic rs2275558 PBX1 AU nonsynonymous SNV NM_002585 exon1 c.G61A p.G21S 0.307308 0.6101 0.138099 0.2977 0.6226 0.43 T 1.0 N -0.502 T 0.491 P 0.025 P Pathogenic 1_164776947_C->T 1 164776947 164776947 C T snp 1506.77 0/1 99 126 69 57 0.45 intronic rs201098311 PBX1 AU NM_001204963 exon5 c.247855+33C>T 0.000199681 0.001 Uncertain 1_164789444_A->G 1 164789444 164789444 A G snp 1050.77 1/1 78 34 0 34 1.0 intronic rs1538488 PBX1 AU NM_001204963 exon7 c.260362+23A>G 1 1 0.999846 0.9998 0.9999 Uncertain 1_165173216_A->G 1 165173216 165173216 A G snp 2492.77 1/1 99 85 0 85 1.0 exonic rs1354509 LMX1A AU synonymous SNV NM_001174069 exon9 c.T1050C p.D350D 0.998802 1 0.999154 0.9997 1 Uncertain 1_165174959_C->T 1 165174959 165174959 C T snp 64.77 0/1 67 5 2 3 0.6 intronic rs16841013 LMX1A AU NM_001174069 exon2 c.1984-141C>T 0.280152 0.4762 Uncertain 1_165175374_G->A 1 165175374 165175374 G A snp 272.77 0/1 99 21 10 11 0.52 intronic rs4656435 LMX1A AU NM_001174069 exon2 c.2155+103G>A 0.451478 0.2778 Uncertain 1_165180089_T->A 1 165180089 165180089 T A snp 282.77 0/1 99 29 17 12 0.41 intronic rs1532815 LMX1A AU NM_001174069 exon4 c.6897+76T>A 0.66853 0.3581 Uncertain 1_165218533_A->G 1 165218533 165218533 A G snp 252.8 1/1 21 7 0 7 1.0 intronic rs12747984 LMX1A AU NM_001174069 exon6 c.45528-111A>G 0.32488 0.5615 Uncertain 1_165218792_G->A 1 165218792 165218792 G A snp 6764.77 1/1 99 250 0 250 1.0 exonic rs10753668 LMX1A AU synonymous SNV NM_001174069 exon4 c.C349T p.L117L 0.324681 0.5605 0.215055 0.3039 0.5618 Uncertain 1_165375835_A->G 1 165375835 165375835 A G snp 56.74 1/1 6 2 0 2 1.0 intronic rs283698 RXRG AU NM_001256570 exon2 c.5549-213A>G 0.872005 0.9276 Uncertain 1_165375895_A->C 1 165375895 165375895 A C snp 301.78 1/1 24 12 0 12 1.0 intronic rs283697 RXRG AU NM_001256570 exon2 c.5549-153A>C 0.872005 0.9276 Uncertain 1_165376043_T->C 1 165376043 165376043 T C snp 1508.77 1/1 99 57 0 57 1.0 splicing rs283696 RXRG AU NM_001256570 exon2 c.5549-5T>C 0.872005 0.9276 0.813394 0.8290 0.9255 ID=CR023840;DIS=Diabetes, type 2, susceptibility to, association;TAG=DP;PUB=12175776 DP Pathogenic 1_165376229_C->G 1 165376229 165376229 C G snp 490.77 1/1 36 18 0 18 1.0 intronic rs10800095 RXRG AU NM_001256570 exon2 c.5655+75C>G 0.779353 0.8423 Uncertain 1_165376233_G->C 1 165376233 165376233 G C snp 482.77 1/1 36 18 0 18 1.0 intronic rs10800096 RXRG AU NM_001256570 exon2 c.5655+79G>C 0.869409 0.9276 Uncertain 1_165377389_T->C 1 165377389 165377389 T C snp 519.77 1/1 39 16 0 16 1.0 intronic rs283692 RXRG AU NM_001256570 exon3 c.6964-74T>C 0.996206 1 Uncertain 1_165377552_G->A 1 165377552 165377552 G A snp 4030.77 1/1 99 160 0 160 1.0 exonic rs2134095 RXRG AU synonymous SNV NM_006917 exon8 c.C1050T p.V350V 0.478834 0.5079 0.554436 0.6105 0.5311 Uncertain 1_165378730_ACAC->- 1 165378730 165378733 ACAC - indel 3432.73 1/1 99 58 0 58 1.0 intronic rs58727696 RXRG AU NM_001256570 exon4 c.8295-64_8295-61delACAC Uncertain 1_165386567_C->T 1 165386567 165386567 C T snp 113.77 0/1 99 10 5 5 0.5 intronic rs2281986 RXRG AU NM_001256570 exon7 c.15958+110C>T 0.391573 0.3214 Uncertain 1_165406187_T->C 1 165406187 165406187 T C snp 80.77 0/1 99 6 3 3 0.5 intronic rs79627842 RXRG AU NM_001256570 exon11 c.43582-7894T>C 0.124401 0.1171 Uncertain 1_165406243_C->T 1 165406243 165406243 C T snp 354.77 0/1 99 29 13 16 0.55 intronic rs77182452 RXRG AU NM_001256570 exon11 c.43582-7838C>T 0.123802 0.1171 Uncertain 1_165406313_T->G 1 165406313 165406313 T G snp 866.77 0/1 99 71 33 38 0.54 intronic rs77875554 RXRG AU NM_001256570 exon11 c.43582-7768T>G 0.124201 0.1161 0.116732 Uncertain 1_165601215_G->C 1 165601215 165601215 G C snp 48.74 1/1 6 2 0 2 1.0 intronic rs4147595 MGST3 AU 0.737021 0.8145 Uncertain 1_165601365_T->C 1 165601365 165601365 T C snp 1061.77 0/1 99 76 28 48 0.63 intronic rs4147596 MGST3 AU 0.447684 0.7798 Uncertain 1_165601466_G->A 1 165601466 165601466 G A snp 2160.77 1/1 99 76 0 76 1.0 intronic rs9333378 MGST3 AU 0.651558 0.9633 0.536275 0.6702 0.9754 Uncertain 1_165621323_ATTATC->- 1 165621323 165621328 ATTATC - indel 5002.73 0/1 99 97 30 67 0.69 intronic rs77176546 MGST3 AU NM_004528 exon4 c.2188+51_2188+56delATTATC 0.244609 0.1865 0.204745 0.2190 0.1935 Uncertain 1_165623386_C->G 1 165623386 165623386 C G snp 218.84 1/1 18 6 0 6 1.0 intronic rs4147604 MGST3 AU NM_004528 exon5 c.4431-129C>G 0.421725 0.8175 Uncertain 1_165623411_C->G 1 165623411 165623411 C G snp 845.77 1/1 63 22 0 22 1.0 intronic rs4147605 MGST3 AU NM_004528 exon5 c.4431-104C>G 0.421725 0.8175 Uncertain 1_165623451_C->T 1 165623451 165623451 C T snp 2500.77 1/1 99 74 0 74 1.0 intronic rs4147606 MGST3 AU NM_004528 exon5 c.4431-64C>T 0.421725 0.8175 Uncertain 1_165623693_G->C 1 165623693 165623693 G C snp 2308.77 1/1 99 70 0 70 1.0 intronic rs4147607 MGST3 AU NM_004528 exon5 c.4504+105G>C 0.421725 0.8175 Uncertain 1_165630475_C->T 1 165630475 165630475 C T snp 269.8 1/1 21 8 0 8 1.0 downstream rs7544840 ALDH9A1 AU 0.823682 0.994 Uncertain 1_165630495_T->C 1 165630495 165630495 T C snp 533.77 1/1 42 16 0 16 1.0 downstream rs7511691 ALDH9A1 AU 0.823682 0.994 Uncertain 1_165630698_A->G 1 165630698 165630698 A G snp 1346.77 1/1 99 45 0 45 1.0 downstream rs6667681 ALDH9A1 AU 0.823682 0.994 0.7455 0.9957 0.08 T 1.000 N -0.928 T Uncertain 1_165651153_T->A 1 165651153 165651153 T A snp 182.9 1/1 15 5 0 5 1.0 intronic rs2882006 ALDH9A1 AU NM_000696 exon8 c.19057-190T>A 0.746006 0.9881 Uncertain 1_165651502_G->C 1 165651502 165651502 G C snp 222.84 1/1 18 6 0 6 1.0 intronic rs1913844 ALDH9A1 AU NM_000696 exon8 c.19192+24G>C 0.746006 0.9881 0.650085 0.7178 0.9810 Uncertain 1_165652273_A->G 1 165652273 165652273 A G snp 3886.77 1/1 99 154 0 154 1.0 exonic rs1143659 ALDH9A1 AU synonymous SNV NM_000696 exon3 c.T402C p.I134I 0.746206 0.9881 0.650161 0.7172 0.9810 Uncertain 1_165652445_A->G 1 165652445 165652445 A G snp 1048.77 1/1 78 30 0 30 1.0 intronic rs4233407 ALDH9A1 AU NM_000696 exon9 c.20061+98A>G 0.746006 0.9881 Uncertain 1_165667512_T->C 1 165667512 165667512 T C snp 330.77 0/1 99 27 15 12 0.44 intronic rs4646883 ALDH9A1 AU NM_000696 exon11 c.35328-102T>C 0.214257 0.5933 Uncertain 1_165667548_G->C 1 165667548 165667548 G C snp 705.77 0/1 99 53 26 27 0.51 intronic rs4646882 ALDH9A1 AU NM_000696 exon11 c.35328-66G>C 0.181909 0.5942 Uncertain 1_165721489_A->T 1 165721489 165721489 A T snp 43.77 0/1 72 6 4 2 0.33 intronic rs386457189 TMCO1 AR NM_001256164 exon3 c.24147+83A>T 0.249201 0.5833 Uncertain 1_165727275_TCT->- 1 165727275 165727277 TCT - indel 4869.73 0/1 99 204 95 109 0.53 intronic rs368377165 TMCO1 AR NM_001256164 exon5 c.31502-1486_31502-1484delTCT 0.245008 0.2411 Uncertain 1_165737704_C->G 1 165737704 165737704 C G snp 5539.77 1/1 99 210 0 210 1.0 intronic rs2790053 TMCO1 AR NM_001256165 exon7 c.40459-14C>G 0.921526 0.9911 0.9171 0.9896 Uncertain 1_165859630_C->G 1 165859630 165859630 C G snp 4055.77 1/1 99 139 0 139 1.0 intronic rs477033 UCK2 AU NM_012474 exon2 c.62530+30C>G 1 1 1.0000 1 Uncertain 1_165865694_G->A 1 165865694 165865694 G A snp 80.77 0/1 72 6 3 3 0.5 intronic rs2241965 UCK2 AU NM_012474 exon4 c.68499+125G>A 0.340855 0.5218 Uncertain 1_166029970_T->C 1 166029970 166029970 T C snp 2478.77 1/1 99 86 0 86 1.0 intergenic rs4353067 UCK2 AU 0.727037 0.8046 Uncertain 1_166124134_A->G 1 166124134 166124134 A G snp 6017.77 1/1 99 220 0 220 1.0 intronic rs896402 FAM78B AU NM_001017961 exon2 c.95745-11088A>G 0.990415 1 Uncertain 1_166591043_T->C 1 166591043 166591043 T C snp 1817.77 1/1 99 53 0 53 1.0 ncRNA_intronic rs530513 FMO9P AU 0.529752 0.3393 Uncertain 1_166591271_T->C 1 166591271 166591271 T C snp 1643.77 0/1 99 137 72 65 0.47 ncRNA_splicing rs17472444 FMO9P AU 0.138578 0.1865 0.1606 0.145 Uncertain 1_166591460_T->G 1 166591460 166591460 T G snp 93.28 1/1 9 3 0 3 1.0 ncRNA_intronic rs72691675 FMO9P AU 0.091254 0.001 Uncertain 1_166816108_T->A 1 166816108 166816108 T A snp 102.77 0/1 99 12 8 4 0.33 intronic rs56229522 POGK AU NM_017542 exon3 c.5782+133T>A 0.289736 0.5565 Uncertain 1_166818566_A->G 1 166818566 166818566 A G snp 2888.77 0/1 99 250 142 108 0.43 exonic rs2075946 POGK AU synonymous SNV NM_017542 exon5 c.A750G p.A250A 0.276757 0.5565 0.181608 0.2239 0.5722 Uncertain 1_166826773_C->T 1 166826773 166826773 C T snp 299.77 0/1 99 20 10 10 0.5 UTR3 rs6675153 TADA1 AU 0.442292 0.2996 0.476011 0.3996 0.2940 Uncertain 1_166827602_A->T 1 166827602 166827602 A T snp 504.77 0/1 99 27 8 19 0.7 intronic rs10800270 TADA1 AU NM_053053 exon2 c.715+84A>T 0.28135 0.5754 Uncertain 1_166827674_T->C 1 166827674 166827674 T C snp 46.77 0/1 75 7 3 4 0.57 intronic rs6691431 TADA1 AU NM_053053 exon2 c.715+156T>C 0.34345 0.3006 Uncertain 1_166831404_A->C 1 166831404 166831404 A C snp 153.77 0/1 57 7 2 5 0.71 intronic rs2075947 TADA1 AU NM_053053 exon4 c.4636-35A>C 0.353834 0.2996 0.380209 0.3578 0.2939 Uncertain 1_166831703_-->A 1 166831703 166831703 - A indel 267.73 0/1 99 17 6 11 0.65 intronic rs35181816 TADA1 AU NM_053053 exon4 c.4846+54insA 0.353834 0.2996 Uncertain 1_166833199_C->A 1 166833199 166833199 C A snp 1395.77 0/1 99 117 63 54 0.46 intronic rs2272793 TADA1 AU NM_053053 exon5 c.6355+41C>A 0.353235 0.2996 0.377961 0.3572 0.2921 Uncertain 1_166838866_-->ATTTT 1 166838866 166838866 - ATTTT indel 442.73 0/1 99 23 16 7 0.3 intronic rs58827294 TADA1 AU NM_053053 exon6 c.11944+119insATTTT 0.373602 0.5645 Uncertain 1_166839174_G->A 1 166839174 166839174 G A snp 585.77 0/1 99 64 41 23 0.36 intronic rs4657609 TADA1 AU NM_053053 exon7 c.12288+83G>A 0.25639 0.5635 Uncertain 1_166925806_A->C 1 166925806 166925806 A C snp 184.77 0/1 99 12 6 6 0.5 intronic rs2075981 ILDR2 AU NM_199351 exon8 c.37378-163A>C 0.447284 0.5853 Uncertain 1_166958601_T->C 1 166958601 166958601 T C snp 3237.77 0/1 99 249 114 135 0.54 exonic rs2296837 MAEL AU synonymous SNV NM_001286377 exon1 c.T12C p.R4R 0.301917 0.247 0.340766 0.2841 0.2691 Uncertain 1_166958710_T->G 1 166958710 166958710 T G snp 2519.77 0/1 99 195 91 104 0.53 exonic rs11578336 MAEL AU nonsynonymous SNV NM_001286377 exon1 c.T121G p.S41A 0.248602 0.248 0.282866 0.2770 0.2779 0.81 T 0.0 P -0.969 T 0.0 T 0.001 T Pathogenic 1_166958937_G->T 1 166958937 166958937 G T snp 143.77 0/1 99 17 10 7 0.41 intronic rs41269702 MAEL AU NM_032858 exon2 c.384-36G>T 0.233626 0.247 0.247808 0.2215 0.2602 Uncertain 1_166961857_G->A 1 166961857 166961857 G A snp 1448.77 1/1 99 42 0 42 1.0 intronic rs7511933 MAEL AU NM_001286377 exon3 c.3333-65G>A 0.292332 0.246 Uncertain 1_166963234_T->C 1 166963234 166963234 T C snp 1479.77 1/1 99 54 0 54 1.0 intronic rs3736988 MAEL AU NM_001286377 exon4 c.4675-30T>C 0.38119 0.247 0.434903 0.3667 0.2585 Uncertain 1_166974420_T->C 1 166974420 166974420 T C snp 952.77 0/1 99 91 53 38 0.42 intronic rs1041238 MAEL AU NM_001286377 exon6 c.15778+53T>C 0.175519 0.246 0.162505 Uncertain 1_167032796_C->T 1 167032796 167032796 C T snp 120.77 0/1 99 12 4 8 0.67 intronic rs12742013 GPA33 AU NM_005814 exon4 c.9248-22C>T 0.0934505 0.153852 0.1556 0.0008 Uncertain 1_167042590_C->T 1 167042590 167042590 C T snp 1013.77 0/1 99 80 41 39 0.49 intronic rs12139875 GPA33 AU NM_005814 exon6 c.19051-31C>T 0.139577 0.213440 0.1919 0.0006 Uncertain 1_167059336_C->T 1 167059336 167059336 C T snp 261.77 0/1 99 16 8 8 0.5 intronic rs2281964 GPA33 AU NM_005814 exon7 c.35911-145C>T 0.315695 0.1736 Uncertain 1_167059462_G->C 1 167059462 167059462 G C snp 2185.77 0/1 99 173 80 93 0.54 intronic rs2281963 GPA33 AU NM_005814 exon7 c.35911-19G>C 0.383586 0.1736 0.510457 0.4204 0.1673 Uncertain 1_167059575_G->T 1 167059575 167059575 G T snp 1670.77 0/1 99 151 79 72 0.48 UTR5 rs28384507 GPA33 AU 0.335264 0.1736 0.435261 0.3689 0.1674 Uncertain 1_167082869_G->A 1 167082869 167082869 G A snp 2317.77 0/1 99 174 81 93 0.53 intronic rs12122365 DUSP27 AU NM_001080426 exon2 c.18860-77G>A 0.666334 0.8929 Uncertain 1_167088473_C->A 1 167088473 167088473 C A snp 547.77 0/1 99 48 27 21 0.44 intronic rs1410244 DUSP27 AU NM_001080426 exon4 c.24399-12C>A 0.404952 0.7351 0.289636 0.3257 0.7386 Uncertain 1_167353259_T->- 1 167353259 167353259 T - indel 944.73 1/1 96 40 0 40 1.0 intronic rs35617253 POU2F1 AU NM_002697 exon8 c.163054+71delT 0.766973 0.8899 Uncertain 1_167367193_C->T 1 167367193 167367193 C T snp 3283.77 1/1 99 117 1 116 0.99 intronic rs7524019 POU2F1 AU NM_002697 exon11 c.177096-37C>T 0.459864 0.6994 0.352837 0.5026 0.7100 Uncertain 1_167370988_C->A 1 167370988 167370988 C A snp 56.74 1/1 6 2 0 2 1.0 intronic rs2273964 POU2F1 AU NM_002697 exon13 c.180659+195C>A 0.769768 0.8899 Uncertain 1_167382374_A->C 1 167382374 167382374 A C snp 1728.77 1/1 99 59 0 59 1.0 intronic rs10753757 POU2F1 AU NM_002697 exon15 c.192217+23A>C 0.769968 0.8899 0.704213 0.7371 0.8796 Uncertain 1_167382400_GTGT->- 1 167382400 167382403 GTGT - indel 1578.73 1/1 81 40 0 40 1.0 intronic rs112044990 POU2F1 AU NM_002697 exon15 c.192217+49_192217+52delGTGT 0.4877 0.5525 Uncertain 1_167385178_-->A 1 167385178 167385178 - A indel 155.73 1/1 32 14 0 14 1.0 UTR3 rs35216157 POU2F1 AU Uncertain 1_167403504_A->G 1 167403504 167403504 A G snp 339.78 1/1 27 11 0 11 1.0 intronic rs952962 CD247 AR NM_000734 exon3 c.2396+191A>G 0.842652 0.7431 Uncertain 1_167404078_G->A 1 167404078 167404078 G A snp 802.77 1/1 57 33 0 33 1.0 intronic rs3108156 CD247 AR NM_000734 exon4 c.3718-557G>A 0.843051 0.751 Uncertain 1_167404535_T->C 1 167404535 167404535 T C snp 56.77 0/1 85 15 11 4 0.27 intronic rs56387336 CD247 AR NM_000734 exon4 c.3718-100T>C Uncertain 1_167407686_T->C 1 167407686 167407686 T C snp 343.78 1/1 27 10 0 10 1.0 intronic rs2462553 CD247 AR NM_000734 exon5 c.6889-120T>C 0.844649 0.751 Uncertain 1_167408073_C->A 1 167408073 167408073 C A snp 52.74 1/1 6 3 0 3 1.0 intronic rs2258497 CD247 AR NM_000734 exon5 c.6970+186C>A 0.844848 0.751 Uncertain 1_167408670_C->T 1 167408670 167408670 C T snp 1549.77 0/1 99 127 62 65 0.51 intronic rs840016 CD247 AR NM_000734 exon6 c.7720+33C>T 0.190695 0.0913 0.300015 0.3114 0.1048 Uncertain 1_167515272_T->C 1 167515272 167515272 T C snp 1837.77 1/1 99 66 0 66 1.0 intronic rs7513428 CREG1 AU NM_003851 exon2 c.3803-65T>C 0.85623 0.9802 Uncertain 1_167522453_C->T 1 167522453 167522453 C T snp 141.03 1/1 12 5 0 5 1.0 intronic rs2995069 CREG1 AU NM_003851 exon4 c.11090-171C>T 0.896765 1 Uncertain 1_167599533_C->T 1 167599533 167599533 C T snp 520.77 1/1 39 14 0 14 1.0 UTR5 rs3738220 RCSD1 AU 0.124601 0.2431 Uncertain 1_167734793_C->T 1 167734793 167734793 C T snp 1720.77 0/1 99 112 45 67 0.6 intronic rs763283 MPZL1 AU NM_003953 exon2 c.43431-26C>T 0.222644 0.371 0.140627 0.2230 0.3743 Uncertain 1_167778843_G->A 1 167778843 167778843 G A snp 1060.77 1/1 81 29 0 29 1.0 UTR3 rs3213588 ADCY10 AD 0.471046 0.1766 Uncertain 1_167787265_C->T 1 167787265 167787265 C T snp 2378.77 1/1 99 72 0 72 1.0 intronic rs12060498 ADCY10 AD NM_001167749 exon3 c.8395-44C>T 0.11901 0.0327 0.178533 0.1351 0.0403 Uncertain 1_167792079_G->T 1 167792079 167792079 G T snp 171.9 1/1 15 5 0 5 1.0 intronic rs2269673 ADCY10 AD NM_001167749 exon5 c.13331-166G>T 0.568291 0.4246 Uncertain 1_167793670_C->T 1 167793670 167793670 C T snp 533.77 1/1 39 20 0 20 1.0 intronic rs1476074 ADCY10 AD NM_001167749 exon6 c.14799-43C>T 0.371805 0.4226 0.393187 0.4044 0.4321 Uncertain 1_167803896_T->A 1 167803896 167803896 T A snp 1404.77 1/1 99 40 0 40 1.0 intronic rs2863273 ADCY10 AD NM_001167749 exon10 c.24401+581T>A 0.214058 0.2192 0.5 . Uncertain 1_167805439_G->A 1 167805439 167805439 G A snp 1471.77 1/1 99 52 0 52 1.0 intronic rs7550383 ADCY10 AD NM_001167749 exon11 c.26632-107G>A 0.471246 0.25 Uncertain 1_167805865_C->T 1 167805865 167805865 C T snp 54.74 1/1 6 2 0 2 1.0 intronic rs36060877 ADCY10 AD NM_001167749 exon11 c.26864+87C>T 0.0656949 0.0476 Uncertain 1_167806647_T->A 1 167806647 167806647 T A snp 3649.77 1/1 99 132 0 132 1.0 intronic rs1034463 ADCY10 AD NM_001167749 exon12 c.27642+91T>A 0.709665 0.497 Uncertain 1_167806696_T->C 1 167806696 167806696 T C snp 2060.77 1/1 99 69 0 69 1.0 intronic rs1034464 ADCY10 AD NM_001167749 exon12 c.27642+140T>C 0.844449 0.7927 Uncertain 1_167806714_G->A 1 167806714 167806714 G A snp 1549.77 1/1 99 49 0 49 1.0 intronic rs1034465 ADCY10 AD NM_001167749 exon12 c.27642+158G>A 0.470447 0.252 Uncertain 1_167815167_T->C 1 167815167 167815167 T C snp 3494.77 1/1 99 114 1 113 0.99 intronic rs2269678 ADCY10 AD NM_001167749 exon14 c.36308-55T>C 0.23143 0.38 Uncertain 1_167815610_C->A 1 167815610 167815610 C A snp 774.77 1/1 57 24 0 24 1.0 intronic rs2269679 ADCY10 AD NM_001167749 exon14 c.36587+109C>A 0.317292 0.4385 Uncertain 1_167817639_A->G 1 167817639 167817639 A G snp 5323.77 1/1 99 202 0 202 1.0 exonic rs203795 ADCY10 AD synonymous SNV NM_018417 exon19 c.T2397C p.G799G 0.822085 0.8571 0.773258 0.7555 0.8630 Uncertain 1_167823512_T->C 1 167823512 167823512 T C snp 1578.77 1/1 99 49 0 49 1.0 intronic rs3738236 ADCY10 AD NM_001167749 exon16 c.44676-78T>C 0.636781 0.6746 Uncertain 1_167825485_T->C 1 167825485 167825485 T C snp 4857.77 1/1 99 172 0 172 1.0 exonic rs2071921 ADCY10 AD nonsynonymous SNV NM_018417 exon17 c.A2089G p.I697V 0.504593 0.7113 0.420421 0.4558 0.7074 0.18 T 1.000 P -1.015 T 0.001 T 0.001 T Pathogenic 1_167825606_A->G 1 167825606 167825606 A G snp 1624.77 1/1 99 57 0 57 1.0 exonic rs2071922 ADCY10 AD synonymous SNV NM_018417 exon17 c.T1968C p.F656F 0.208267 0.4177 0.106182 0.1770 0.4315 Uncertain 1_167830006_G->C 1 167830006 167830006 G C snp 1606.77 1/1 99 48 0 48 1.0 intronic rs7518237 ADCY10 AD NM_001167749 exon19 c.51194-102G>C 0.307308 0.4028 Uncertain 1_167839578_G->A 1 167839578 167839578 G A snp 2681.77 1/1 99 103 0 103 1.0 exonic rs67878347 ADCY10 AD synonymous SNV NM_018417 exon14 c.C1533T p.V511V 0.125599 0.126 0.161156 0.1856 0.1325 Uncertain 1_167844553_C->A 1 167844553 167844553 C A snp 1341.77 1/1 99 39 0 39 1.0 intronic rs203826 ADCY10 AD NM_001167749 exon21 c.65510+129C>A 0.315695 0.1875 Uncertain 1_167844582_C->G 1 167844582 167844582 C G snp 583.77 1/1 45 15 0 15 1.0 intronic rs203827 ADCY10 AD NM_001167749 exon21 c.65510+158C>G 0.316494 0.1875 Uncertain 1_167847584_T->C 1 167847584 167847584 T C snp 99.28 1/1 9 3 0 3 1.0 intronic rs203838 ADCY10 AD NM_001167749 exon22 c.68769-99T>C 0.323682 0.1875 Uncertain 1_167849318_A->G 1 167849318 167849318 A G snp 647.77 1/1 48 24 0 24 1.0 intronic rs203847 ADCY10 AD NM_001167749 exon23 c.70438-34A>G 0.285543 0.127 0.361679 0.3091 0.1381 Uncertain 1_167849414_A->G 1 167849414 167849414 A G snp 1626.77 1/1 99 63 0 63 1.0 exonic rs203849 ADCY10 AD synonymous SNV NM_018417 exon11 c.T1155C p.G385G 0.493211 0.3224 0.534297 0.4775 0.3295 Uncertain 1_167889094_T->A 1 167889094 167889094 T A snp 471.77 1/1 36 15 0 15 1.0 intronic rs17556487 MPC2 AU NM_001143674 exon2 c.1656-122T>A 0.171326 0.131 Uncertain 1_167893759_G->A 1 167893759 167893759 G A snp 429.77 1/1 33 20 0 20 1.0 exonic rs9618 MPC2 AU synonymous SNV NM_001143674 exon3 c.C126T p.F42F 0.40655 0.1806 0.422063 0.3954 0.2043 Uncertain 1_167906239_A->C 1 167906239 167906239 A C snp 1478.77 1/1 99 57 0 57 1.0 exonic;splicing rs203788 DCAF6;MPC2 UN synonymous SNV NM_001017977 exon1 c.A90C p.R30R 1 1 1 1 Uncertain 1_167971979_G->T 1 167971979 167971979 G T snp 99.28 1/1 9 3 0 3 1.0 intronic rs436256 DCAF6 AU NM_018442 exon8 c.65664+166G>T 0.680711 0.5317 Uncertain 1_167971980_C->G 1 167971980 167971980 C G snp 99.28 1/1 9 3 0 3 1.0 intronic rs428694 DCAF6 AU NM_018442 exon8 c.65664+167C>G 0.68151 0.5317 Uncertain 1_167973328_C->G 1 167973328 167973328 C G snp 182.77 0/1 99 19 12 7 0.37 intronic rs149966666 DCAF6 AU NM_018442 exon9 c.67078+101C>G 0.0133786 0.0308 Uncertain 1_167973976_C->T 1 167973976 167973976 C T snp 5885.77 1/1 99 230 0 230 1.0 exonic rs1060041 DCAF6 AU synonymous SNV NM_001198957 exon9 c.C1230T p.D410D 0.167931 0.1339 0.187404 0.2318 0.1360 Uncertain 1_167985327_G->- 1 167985327 167985327 G - indel 490.73 1/1 39 13 0 13 1.0 intronic rs3831959 DCAF6 AU NM_001198956 exon11 c.79040+138delG 0.428714 0.1905 Uncertain 1_167988653_A->G 1 167988653 167988653 A G snp 2345.77 1/1 99 80 0 80 1.0 intronic rs202255 DCAF6 AU NM_001198956 exon11 c.79040+3464A>G 0.3127 0.1915 Uncertain 1_167992344_T->A 1 167992344 167992344 T A snp 3161.77 1/1 99 100 0 100 1.0 intronic rs201541 DCAF6 AU NM_018442 exon11 c.86136+59T>A 0.433506 0.1895 0.459921 Uncertain 1_168019995_G->A 1 168019995 168019995 G A snp 71.77 0/1 99 8 5 3 0.38 intronic rs148418100 DCAF6 AU NM_001198956 exon17 c.113980-134G>A 0.00559105 0.0258 Uncertain 1_168035104_G->C 1 168035104 168035104 G C snp 267.8 1/1 21 8 0 8 1.0 intronic rs380095 DCAF6 AU NM_018442 exon17 c.128835+120G>C 0.901158 0.8115 Uncertain 1_168056724_A->G 1 168056724 168056724 A G snp 4929.77 1/1 99 164 0 164 1.0 intronic rs275143 GPR161 AU NM_001267611 exon2 c.2054-98A>G 0.438498 0.2163 Uncertain 1_168059866_A->G 1 168059866 168059866 A G snp 5629.77 1/1 99 203 0 203 1.0 exonic rs275149 GPR161 AU synonymous SNV NM_001267609 exon5 c.T1200C p.G400G 0.320487 0.1518 0.431647 0.3539 0.2017 Uncertain 1_168073601_C->A 1 168073601 168073601 C A snp 1044.77 1/1 78 33 0 33 1.0 intronic rs2294817 GPR161 AU NM_001267611 exon5 c.18946-113C>A 0.28774 0.1498 Uncertain 1_168074145_G->A 1 168074145 168074145 G A snp 1719.77 1/1 99 53 0 53 1.0 intronic rs6427119 GPR161 AU NM_001267611 exon5 c.19364+13G>A 0.286941 0.1488 0.3360 0.1576 Uncertain 1_168106716_T->C 1 168106716 168106716 T C snp 3306.77 1/1 99 113 0 113 1.0 UTR5 rs6664903 GPR161 AU 0.851637 0.8065 Uncertain 1_168106783_C->T 1 168106783 168106783 C T snp 1373.77 1/1 99 40 0 40 1.0 UTR5 rs41271651 GPR161 AU 0.138179 0.1508 Uncertain 1_168153090_A->T 1 168153090 168153090 A T snp 3380.77 1/1 99 105 0 105 1.0 intronic rs2038035 TIPRL AU NM_152902 exon2 c.4824-49A>T 0.327077 0.4147 0.254805 0.2737 0.3982 Uncertain 1_168153370_A->G 1 168153370 168153370 A G snp 1673.77 1/1 99 52 0 52 1.0 intronic rs2038034 TIPRL AU NM_152902 exon2 c.5004+51A>G 0.335264 0.4157 0.262956 0.2812 0.4136 Uncertain 1_168169452_G->A 1 168169452 168169452 G A snp 56.74 1/1 6 2 0 2 1.0 UTR3 rs2072776 TIPRL AU 0.538339 0.4415 Uncertain 1_168260377_-->GTTTC 1 168260377 168260377 - GTTTC indel 3108.73 0/1 99 102 57 45 0.44 intronic rs140045735 TBX19 AR NM_005149 exon2 c.10069-20insGTTTC 0.036593 0.0415 0.0913 Uncertain 1_168262289_A->G 1 168262289 168262289 A G snp 1287.77 0/1 99 92 45 47 0.51 intronic rs7543224 TBX19 AR NM_005149 exon3 c.12053-92A>G 0.580671 0.5 Uncertain 1_168274201_G->A 1 168274201 168274201 G A snp 501.77 0/1 99 61 37 24 0.39 intronic rs4656579 TBX19 AR NM_005149 exon6 c.23917-44G>A 0.48762 0.378 0.633169 0.6047 0.3461 Uncertain 1_168278264_G->A 1 168278264 168278264 G A snp 191.77 0/1 99 14 7 7 0.5 intronic rs1883148 TBX19 AR NM_005149 exon7 c.27787+149G>A 0.725439 0.7183 Uncertain 1_168510122_T->A 1 168510122 168510122 T A snp 469.77 0/1 99 38 18 20 0.53 UTR3 rs470733 XCL2 AU 0.627596 0.8671 Uncertain 1_168511155_T->C 1 168511155 168511155 T C snp 451.77 0/1 99 38 21 17 0.45 intronic rs76400946 XCL2 AU NM_003175 exon2 c.1041-75T>C 0.661741 0.8661 Uncertain 1_168511284_T->C 1 168511284 168511284 T C snp 389.77 0/1 99 60 38 22 0.37 exonic rs4282797 XCL2 AU synonymous SNV NM_003175 exon2 c.A123G p.P41P 0.352037 0.6429 0.138671 0.2325 0.6220 Uncertain 1_168511321_C->T 1 168511321 168511321 C T snp 173.77 0/1 99 39 28 11 0.28 exonic rs4501820 XCL2 AU nonsynonymous SNV NM_003175 exon2 c.G86A p.R29K 0.119609 0.3254 0.019874 0.0265 0.0016 1 T 1.0 N -0.971 T 0.0 T 0.001 T Pathogenic 1_168511325_G->C 1 168511325 168511325 G C snp 58.77 0/1 87 37 28 9 0.24 exonic rs4301615 XCL2 AU nonsynonymous SNV NM_003175 exon2 c.C82G p.H28D 0.120407 0.3254 0.025184 0.0267 0.0034 0.32 T 1.000 P -0.912 T 0.0 T 0.0 T Pathogenic 1_168513129_C->T 1 168513129 168513129 C T snp 1643.77 0/1 99 150 79 71 0.47 intronic rs3820405 XCL2 AU NM_003175 exon3 c.2952-12C>T 0.353235 0.6617 0.2879 0.6853 Uncertain 1_168513243_G->A 1 168513243 168513243 G A snp 1196.77 0/1 99 106 55 51 0.48 upstream rs1933114 XCL2 AU 0.387181 0.6756 0.245688 0.3048 0.6931 Uncertain 1_168513346_A->T 1 168513346 168513346 A T snp 65.77 0/1 94 10 7 3 0.3 upstream rs3820411 XCL2 AU 0.301118 0.6548 Uncertain 1_168545758_C->T 1 168545758 168545758 C T snp 176.77 0/1 99 12 6 6 0.5 UTR5 rs28433337 XCL1 AU 0.404153 0.3641 Uncertain 1_168545949_G->A 1 168545949 168545949 G A snp 1197.77 0/1 99 131 76 55 0.42 intronic rs34933908 XCL1 AU NM_002995 exon1 c.61+13G>A 0.5688 0.3414 Uncertain 1_168549422_C->T 1 168549422 168549422 C T snp 739.77 0/1 99 98 64 34 0.35 intronic rs6427130 XCL1 AU NM_002995 exon2 c.3540+7C>T 0.424321 0.1935 0.537675 0.4699 0.1694 Uncertain 1_168698173_C->T 1 168698173 168698173 C T snp 1731.77 0/1 99 133 67 66 0.5 exonic rs1052591 DPT AU synonymous SNV NM_001937 exon1 c.G240A p.T80T 0.317492 0.1637 0.468707 0.4302 0.1543 Uncertain 1_169080837_C->T 1 169080837 169080837 C T snp 2177.77 1/1 99 72 0 72 1.0 intronic rs1200138 ATP1B1 AO NM_001677 exon2 c.4669+101C>T 0.746805 0.8938 Uncertain 1_169094100_T->A 1 169094100 169094100 T A snp 3690.77 1/1 99 130 0 130 1.0 intronic rs968304 ATP1B1 AO NM_001677 exon3 c.18054-21T>A 0.657947 0.8135 0.614024 0.6073 0.8207 Uncertain 1_169099061_G->A 1 169099061 169099061 G A snp 357.78 1/1 27 13 0 13 1.0 intronic rs1200157 ATP1B1 AO NM_001677 exon5 c.23180-186G>A 0.639377 0.8115 Uncertain 1_169101935_C->T 1 169101935 169101935 C T snp 3007.77 1/1 99 106 0 106 1.0 UTR3 rs1138486 ATP1B1 AO 0.26877 0.7282 Uncertain 1_169102181_AATC->- 1 169102181 169102184 AATC - indel 5526.73 1/1 99 109 0 109 1.0 intronic rs3060498 NME7 AU NM_013330 exon1 c.33+126_33+129delAATC Uncertain 1_169138027_A->G 1 169138027 169138027 A G snp 1242.77 1/1 87 49 0 49 1.0 intronic rs10919082 NME7 AU NM_013330 exon2 c.36662-657A>G 0.400559 0.7222 Uncertain 1_169138307_C->A 1 169138307 169138307 C A snp 1027.77 1/1 75 41 0 41 1.0 intronic rs4656656 NME7 AU NM_013330 exon2 c.36662-377C>A 0.385383 0.7212 0.3674 0.6653 Uncertain 1_169138318_T->A 1 169138318 169138318 T A snp 1059.77 1/1 75 42 0 42 1.0 intronic rs4656657 NME7 AU NM_013330 exon2 c.36662-366T>A 0.400559 0.7222 0.3802 0.6855 Uncertain 1_169138868_C->T 1 169138868 169138868 C T snp 1157.77 1/1 87 32 0 32 1.0 intronic rs3737681 NME7 AU NM_013330 exon2 c.36770+76C>T 0.400559 0.7222 Uncertain 1_169159866_G->T 1 169159866 169159866 G T snp 662.77 1/1 48 23 0 23 1.0 intronic rs7526721 NME7 AU NM_013330 exon2 c.36770+21074G>T 0.476438 0.744 Uncertain 1_169200111_C->T 1 169200111 169200111 C T snp 775.77 1/1 57 31 0 31 1.0 intronic rs10800420 NME7 AU NM_013330 exon3 c.98035+54C>T 0.411142 0.7679 Uncertain 1_169206744_T->C 1 169206744 169206744 T C snp 162.78 0/1 24 7 1 6 0.86 intronic rs34246691 NME7 AU NM_013330 exon5 c.104838-116T>C 0.181709 0.6319 Uncertain 1_169206994_-->T 1 169206994 169206994 - T indel 208.37 0/1 8 13 1 12 0.92 intronic rs35686505 NME7 AU NM_013330 exon5 c.104903+69insT 0.184505 0.6319 0.020951 Uncertain 1_169216412_C->G 1 169216412 169216412 C G snp 637.77 1/1 48 19 0 19 1.0 intronic rs2040445 NME7 AU NM_013330 exon5 c.104903+9487C>G 0.992812 1 Uncertain 1_169272451_A->T 1 169272451 169272451 A T snp 693.77 1/1 51 22 0 22 1.0 intronic rs10800427 NME7 AU NM_013330 exon8 c.170411+18A>T 0.982029 0.997 0.962434 0.9608 0.9994 Uncertain 1_169272453_G->A 1 169272453 169272453 G A snp 659.77 1/1 48 21 0 21 1.0 intronic rs10800428 NME7 AU NM_013330 exon8 c.170411+20G>A 0.982827 0.999 0.962589 0.9607 0.9994 Uncertain 1_169292573_G->A 1 169292573 169292573 G A snp 93.77 0/1 99 15 11 4 0.27 intronic rs117580104 NME7 AU NM_013330 exon10 c.190499+52G>A 0.00399361 0.0188 0.0028 0.0350 Uncertain 1_169293826_G->C 1 169293826 169293826 G C snp 509.77 1/1 39 13 0 13 1.0 intronic rs3213587 NME7 AU NM_013330 exon11 c.191716+88G>C 0.197085 0.6319 Uncertain 1_169293840_T->C 1 169293840 169293840 T C snp 373.77 1/1 30 10 0 10 1.0 intronic rs3213586 NME7 AU NM_013330 exon11 c.191716+102T>C 0.197085 0.6319 Uncertain 1_169345868_A->G 1 169345868 169345868 A G snp 3923.77 1/1 99 143 1 142 0.99 exonic rs1028180 BLZF1 AU nonsynonymous SNV NM_003666 exon3 c.A119G p.Q40R 0.203275 0.631 0.039674 0.1033 0.6738 0.46 T 0.997 P -1.089 T 0.902 T 0.382 P Pathogenic 1_169347545_G->A 1 169347545 169347545 G A snp 2540.77 1/1 99 82 1 81 0.99 intronic rs2271762 BLZF1 AU NM_003666 exon4 c.8807-22G>A 0.181909 0.631 0.017530 0.0970 0.6737 Uncertain 1_169349608_-->TA 1 169349608 169349608 - TA indel 486.74 1/1 30 10 0 10 1.0 intronic rs3830533 BLZF1 AU NM_003666 exon5 c.10958-110insTA 0.669529 0.9236 Uncertain 1_169351596_A->G 1 169351596 169351596 A G snp 1089.77 1/1 78 39 0 39 1.0 intronic rs3905328 BLZF1 AU NM_003666 exon6 c.12759+77A>G 0.689097 0.9236 Uncertain 1_169366516_G->A 1 169366516 169366516 G A snp 2603.77 1/1 99 105 0 105 1.0 exonic rs2272801 CCDC181 AU synonymous SNV NM_001300969 exon5 c.C1329T p.F443F 0.203075 0.631 0.038674 0.1020 0.6700 Uncertain 1_169388193_T->C 1 169388193 169388193 T C snp 1007.77 1/1 75 30 0 30 1.0 intronic rs3765229 CCDC181 AU NM_021179 exon3 c.23966-57T>C 0.203275 0.631 0.1065 0.6774 Uncertain 1_169391135_G->A 1 169391135 169391135 G A snp 934.77 0/1 99 83 44 39 0.47 exonic rs80127542 CCDC181 AU synonymous SNV NM_001300969 exon3 c.C534T p.N178N 0.00419329 0.0188 0.000154 0.0028 0.0354 Uncertain 1_169391154_A->G 1 169391154 169391154 A G snp 2019.77 1/1 99 77 0 77 1.0 exonic rs3820059 CCDC181 AU nonsynonymous SNV NM_001300969 exon3 c.T515C p.F172S 0.688898 0.9236 0.644362 0.6728 0.9284 0.49 T 1.000 P -0.935 T 0.001 T 0.001 T Pathogenic 1_169394226_A->G 1 169394226 169394226 A G snp 1591.77 1/1 99 56 0 56 1.0 intronic rs10919168 CCDC181 AU NM_021179 exon5 c.29904+38A>G 0.758387 0.9355 Uncertain 1_169435027_C->T 1 169435027 169435027 C T snp 2481.77 1/1 99 73 0 73 1.0 UTR3 rs2678166 SLC19A2 AR 0.997604 1 Uncertain 1_169455435_G->C 1 169455435 169455435 G C snp 3482.77 1/1 99 129 0 129 1.0 upstream rs2056926 SLC19A2 AR 0.484425 0.8224 Uncertain 1_169489946_A->G 1 169489946 169489946 A G snp 372.77 0/1 99 19 8 11 0.58 intronic rs9332658 F5 AR,AD,AO NM_000130 exon4 c.6352+44A>G 0.1877 0.6081 0.017563 0.1024 0.6569 Uncertain 1_169493953_A->C 1 169493953 169493953 A C snp 1033.77 0/1 99 79 39 40 0.51 intronic rs12131397 F5 AR,AD,AO NM_000130 exon7 c.10524-121A>C 0.271366 0.0437 Uncertain 1_169494196_C->T 1 169494196 169494196 C T snp 173.77 0/1 99 20 13 7 0.35 intronic rs2301515 F5 AR,AD,AO NM_000130 exon7 c.10596+50C>T 0.540735 0.8879 0.329142 0.4086 0.8694 Uncertain 1_169498834_T->C 1 169498834 169498834 T C snp 2485.77 1/1 99 74 0 74 1.0 intronic rs6009 F5 AR,AD,AO NM_000130 exon10 c.15295-11T>C 0.936302 1 0.916346 0.9326 0.9999 Uncertain 1_169498835_G->A 1 169498835 169498835 G A snp 1163.77 0/1 99 80 40 40 0.5 intronic rs6008 F5 AR,AD,AO NM_000130 exon10 c.15295-10G>A 0.217452 0.6081 0.046517 0.1027 0.6413 Uncertain 1_169499190_A->G 1 169499190 169499190 A G snp 329.77 0/1 99 19 9 10 0.53 intronic rs2157581 F5 AR,AD,AO NM_000130 exon10 c.15506+134A>G 0.540335 0.8889 Uncertain 1_169510139_G->A 1 169510139 169510139 G A snp 1235.77 0/1 99 117 61 56 0.48 exonic rs13306334 F5 AR,AD,AO nonsynonymous SNV NM_000130 exon13 c.C4189T p.L1397F 0.172324 0.6022 0.007227 0.0898 0.6406 0.71 T 0.999 P -1.072 T 0.012 T 0.007 T Pathogenic 1_169510475_G->T 1 169510475 169510475 G T snp 1847.77 0/1 99 152 68 84 0.55 exonic rs1046712 F5 AR,AD,AO nonsynonymous SNV NM_000130 exon13 c.C3853A p.L1285I 0.164736 0.1131 0.175073 0.1788 0.1016 0.41 T 1.000 N -1.052 T 0.003 T 0.002 T Pathogenic 1_169515925_A->G 1 169515925 169515925 A G snp 350.77 0/1 99 25 14 11 0.44 intronic rs12139696 F5 AR,AD,AO NM_000130 exon15 c.32280+95A>G 0.072484 0.0496 Uncertain 1_169519049_T->C 1 169519049 169519049 T C snp 2614.77 1/1 99 99 0 99 1.0 exonic rs6025 F5 AR,AD,AO nonsynonymous SNV NM_000130 exon10 c.A1601G p.Q534R 0.99401 1 0.978625 0.9785 1 1 T 0.0 P -0.025 T CLINSIG=pathogenic|other|other|other;CLNDBN=Thrombophilia_due_to_factor_V_Leiden|Ischemic_stroke\x2c_susceptibility_to|Budd-Chiari_syndrome\x2c_susceptibility_to|Recurrent_abortion;CLNREVSTAT=no_assertion_criteria_provided|no_assertion_criteria_provided|no_assertion_criteria_provided|no_assertion_criteria_provided;CLNACC=RCV000000674.1|RCV000000675.2|RCV000000676.1|RCV000023935.1;CLNDSDB=MedGen|.|.|MedGen:OMIM:SNOMED_CT;CLNDSDBID=C2674152|.|.|C0000809:614389:102878001 ID=CM940389;DIS=Thrombosis, increased risk;TAG=DFP;PUB=8164741 DFP Pathogenic 1_169519112_C->T 1 169519112 169519112 C T snp 1241.77 0/1 99 122 72 50 0.41 exonic rs6020 F5 AR,AD,AO nonsynonymous SNV NM_000130 exon10 c.G1538A p.R513K 0.263578 0.627 0.098109 0.1119 0.6486 0.32 T 0.046 P 0.742 D 0.911 T 0.382 D ID=CM980660;DIS=Thrombosis, increased risk, association with;TAG=DP;PUB=9798997 DP Pathogenic 1_169519765_A->G 1 169519765 169519765 A G snp 1148.77 0/1 99 77 34 43 0.56 intronic rs13306331 F5 AR,AD,AO NM_000130 exon17 c.36327-112A>G 0.246805 0.629 Uncertain 1_169520098_A->G 1 169520098 169520098 A G snp 93.28 1/1 9 3 0 3 1.0 intronic rs10800456 F5 AR,AD,AO NM_000130 exon17 c.36427+121A>G 0.587859 0.8819 Uncertain 1_169525766_T->C 1 169525766 169525766 T C snp 821.77 1/1 60 23 0 23 1.0 intronic rs2239853 F5 AR,AD,AO NM_000130 exon20 c.42333-117T>C 0.688498 0.869 Uncertain 1_169525808_G->A 1 169525808 169525808 G A snp 1476.77 1/1 74 52 1 51 0.98 intronic rs2239854 F5 AR,AD,AO NM_000130 exon20 c.42333-75G>A 0.278554 0.2044 Uncertain 1_169551682_T->C 1 169551682 169551682 T C snp 583.77 1/1 42 23 0 23 1.0 exonic rs6028 F5 AR,AD,AO synonymous SNV NM_000130 exon2 c.A237G p.Q79Q 0.226438 0.2044 0.205411 0.3135 0.2230 Uncertain 1_169560727_-->A 1 169560727 169560727 - A indel 311.73 1/1 44 21 0 21 1.0 intronic rs35706397 SELP AD NM_003005 exon3 c.1309+33insA 0.268371 0.2599 0.228578 0.3319 0.3092 Uncertain 1_169564167_G->C 1 169564167 169564167 G C snp 1000.77 1/1 75 27 0 27 1.0 intronic rs742127 SELP AD NM_003005 exon5 c.4730+52G>C 0.252596 0.2401 0.227173 0.3099 0.2678 Uncertain 1_169566313_C->T 1 169566313 169566313 C T snp 3917.77 1/1 99 151 0 151 1.0 exonic rs6127 SELP AD nonsynonymous SNV NM_003005 exon11 c.G1807A p.D603N 0.750799 0.9573 0.645471 0.6386 0.9721 0.83 T 0.0 P -1.032 T 0.0 T 0.001 T ID=CM093649;DIS=Higher platelet SELP measures;TAG=FP;PUB=19395438 FP Pathogenic 1_169572546_TGTGTGTG->- 1 169572546 169572553 TGTGTGTG - indel 860.74 1/1 27 31 0 31 1.0 intronic rs201543202 SELP AD NM_003005 exon8 c.13064+97_13064+104delTGTGTGTG Uncertain 1_169572555_G->C 1 169572555 169572555 G C snp 204.77 0/1 99 25 16 9 0.36 intronic rs201923719 SELP AD NM_003005 exon8 c.13064+106G>C Uncertain 1_169572557_G->C 1 169572557 169572557 G C snp 200.77 0/1 99 23 14 9 0.39 intronic rs199963384 SELP AD NM_003005 exon8 c.13064+108G>C Uncertain 1_169599254_T->C 1 169599254 169599254 T C snp 1515.77 0/1 99 160 89 71 0.44 intronic rs732314 SELP AD NM_003005 exon17 c.39924-55T>C 0.46865 0.3343 0.538546 Uncertain 1_169672595_G->A 1 169672595 169672595 G A snp 125.77 0/1 99 30 20 10 0.33 intronic rs201137167 SELL AU NM_000655 exon4 c.11657+14G>A 0.428315 0.376 0.1371 0.1324 Uncertain 1_169697444_C->T 1 169697444 169697444 C T snp 451.77 0/1 99 46 24 22 0.48 intronic rs1076637 SELE AO NM_000450 exon7 c.2503+57C>T 0.329073 0.494 Uncertain 1_169698825_T->G 1 169698825 169698825 T G snp 2803.77 0/1 99 234 115 119 0.51 intronic rs1534904 SELE AO NM_000450 exon9 c.3930+11T>G 0.801917 0.6935 0.767415 0.7430 0.6931 Uncertain 1_169702278_A->G 1 169702278 169702278 A G snp 77.77 0/1 99 6 3 3 0.5 intronic rs3917406 SELE AO NM_000450 exon12 c.7255+139A>G 0.383586 0.5079 Uncertain 1_169702705_G->A 1 169702705 169702705 G A snp 2796.77 0/1 99 247 129 118 0.48 intronic rs932307 SELE AO NM_000450 exon13 c.7832-11G>A 0.383786 0.5079 0.281485 0.3225 0.5048 Uncertain 1_169764420_C->T 1 169764420 169764420 C T snp 1308.77 0/1 99 83 30 53 0.64 upstream rs41304562 C1orf112 AU 0.0417332 0.0109 Uncertain 1_169768033_T->C 1 169768033 169768033 T C snp 353.77 0/1 99 47 30 17 0.36 UTR5 rs6680938 C1orf112 AU 0.680112 0.6607 0.6728 0.6687 Uncertain 1_169768080_C->A 1 169768080 169768080 C A snp 729.77 0/1 99 76 45 31 0.41 UTR5 rs6668114 C1orf112 AU 0.680112 0.6607 0.6783 0.6585 0.69 T 1.000 P -1.055 T Uncertain 1_169772285_G->T 1 169772285 169772285 G T snp 1558.77 0/1 99 157 87 70 0.45 intronic rs76475485 C1orf112 AU NM_018186 exon5 c.2263-24G>T 0.0435304 0.0109 0.070978 0.0775 0.0166 Uncertain 1_169792642_A->T 1 169792642 169792642 A T snp 661.77 0/1 99 72 43 29 0.4 intronic rs12121443 C1orf112 AU NM_018186 exon10 c.22567+29A>T 0.0417332 0.0109 0.070165 0.0738 0.0156 Uncertain 1_169792692_T->C 1 169792692 169792692 T C snp 429.77 0/1 99 44 26 18 0.41 intronic rs3766141 C1orf112 AU NM_018186 exon10 c.22567+79T>C 0.038738 0.0109 Uncertain 1_169795130_A->G 1 169795130 169795130 A G snp 623.77 0/1 99 48 20 28 0.58 intronic rs17601414 C1orf112 AU NM_018186 exon11 c.26145-1061A>G 0.0435304 0.0109 Uncertain 1_169795215_T->- 1 169795215 169795215 T - indel 232.73 0/1 99 29 17 12 0.41 intronic rs57068023 C1orf112 AU NM_018186 exon11 c.26145-976delT 0.680911 0.6607 0.7176 0.6721 Uncertain 1_169795276_A->C 1 169795276 169795276 A C snp 52.74 1/1 6 2 0 2 1.0 intronic rs6682137 C1orf112 AU NM_018186 exon11 c.26145-915A>C 0.788538 0.6716 0.7760 0.6694 Uncertain 1_169799572_-->TA 1 169799572 169799572 - TA indel 407.73 0/1 99 21 11 10 0.48 intronic rs3215498 C1orf112 AU NM_018186 exon14 c.29436+90insTA 0.0443291 0.0109 Uncertain 1_169799880_G->T 1 169799880 169799880 G T snp 2513.77 0/1 99 237 123 114 0.48 exonic rs2272920 C1orf112 AU nonsynonymous SNV NM_018186 exon15 c.G1441T p.A481S 0.0435304 0.0109 0.071198 0.0742 0.0155 0.02 T 1 D -0.631 T 0.999 D 0.983 D Pathogenic 1_169800090_C->T 1 169800090 169800090 C T snp 77.77 0/1 99 6 3 3 0.5 intronic rs10489174 C1orf112 AU NM_018186 exon15 c.29842+202C>T 0.0417332 0.0109 Uncertain 1_169816662_T->A 1 169816662 169816662 T A snp 511.77 0/1 99 41 22 19 0.46 intronic rs41272481 C1orf112 AU NM_018186 exon20 c.46784-168T>A 0.0443291 0.0109 Uncertain 1_169819605_A->G 1 169819605 169819605 A G snp 238.77 0/1 99 21 9 12 0.57 intronic rs6664099 C1orf112 AU NM_018186 exon22 c.49440+119A>G 0.678714 0.6607 Uncertain 1_169821135_C->T 1 169821135 169821135 C T snp 1825.77 0/1 99 177 101 76 0.43 intronic rs16862714 C1orf112 AU NM_018186 exon23 c.51031+58C>T 0.0706869 0.2302 0.0375 0.2490 Uncertain 1_169822140_-->GGCAGAACT 1 169822140 169822140 - GGCAGAACT indel 1383.73 0/1 99 29 10 19 0.66 UTR3 rs112674836 C1orf112 AU 0.0766773 0.2302 0.021802 0.0334 0.2256 Uncertain 1_169823296_-->CTTGA 1 169823296 169823296 - CTTGA indel 458.73 0/1 99 22 14 8 0.36 intronic rs112604424 SCYL3 AU NM_181093 exon2 c.557-114insCTTGA 0.532748 0.6548 Uncertain 1_169823718_T->C 1 169823718 169823718 T C snp 2356.77 0/1 99 231 136 95 0.41 exonic rs4656197 SCYL3 AU nonsynonymous SNV NM_020423 exon12 c.A1700G p.Q567R 0.679712 0.6607 0.626634 0.6433 0.6650 0.52 T 0.0 P -0.996 T 0.589 P 0.211 P Pathogenic 1_169823790_C->G 1 169823790 169823790 C G snp 2735.77 0/1 99 185 77 108 0.58 exonic rs12143301 SCYL3 AU nonsynonymous SNV NM_020423 exon12 c.G1628C p.G543A 0.0425319 0.0109 0.070275 0.0744 0.0156 0.35 T 1 N -1.014 T 0.925 T 0.54 D Pathogenic 1_169824068_A->G 1 169824068 169824068 A G snp 1640.77 0/1 99 129 61 68 0.53 exonic rs12132384 SCYL3 AU synonymous SNV NM_020423 exon12 c.T1350C p.N450N 0.0443291 0.0109 0.070373 0.0759 0.0157 Uncertain 1_169824104_G->A 1 169824104 169824104 G A snp 1014.77 0/1 99 69 34 35 0.51 exonic rs12135726 SCYL3 AU synonymous SNV NM_020423 exon12 c.C1314T p.G438G 0.0425319 0.0109 0.067683 0.0791 0.0173 Uncertain 1_169824203_A->G 1 169824203 169824203 A G snp 54.74 1/1 6 2 0 2 1.0 intronic rs10489173 SCYL3 AU NM_181093 exon2 c.1252+98A>G 0.0425319 0.0109 0.069895 Uncertain 1_169828098_A->G 1 169828098 169828098 A G snp 178.77 0/1 99 13 6 7 0.54 intronic rs17543370 SCYL3 AU NM_181093 exon4 c.5328-83A>G 0.0443291 0.0109 Uncertain 1_169828327_G->A 1 169828327 169828327 G A snp 1309.77 0/1 99 123 63 60 0.49 exonic rs17602701 SCYL3 AU synonymous SNV NM_020423 exon11 c.C1167T p.S389S 0.0447284 0.0109 0.071352 0.0751 0.0154 Uncertain 1_169831993_A->G 1 169831993 169831993 A G snp 1513.77 1/1 99 55 0 55 1.0 intronic rs7525259 SCYL3 AU NM_181093 exon5 c.9085+55A>G 0.728035 0.6706 Uncertain 1_169833822_T->C 1 169833822 169833822 T C snp 90.28 1/1 9 3 0 3 1.0 intronic rs1883436 SCYL3 AU NM_181093 exon6 c.10796+173T>C 0.728035 0.6696 Uncertain 1_169836175_T->C 1 169836175 169836175 T C snp 987.77 0/1 99 86 40 46 0.53 intronic rs17543611 SCYL3 AU NM_181093 exon7 c.13261+61T>C 0.0443291 0.0109 0.069824 Uncertain 1_169838016_G->A 1 169838016 169838016 G A snp 148.77 0/1 99 15 7 8 0.53 intronic rs2272914 SCYL3 AU NM_181093 exon8 c.15215-52G>A 0.0706869 0.2302 Uncertain 1_169843017_C->T 1 169843017 169843017 C T snp 454.77 0/1 99 40 20 20 0.5 intronic rs12122419 SCYL3 AU NM_181093 exon10 c.20040+124C>T 0.0423323 0.0109 Uncertain 1_169847683_G->A 1 169847683 169847683 G A snp 602.77 1/1 45 20 0 20 1.0 intronic rs6683056 SCYL3 AU NM_181093 exon12 c.24921-91G>A 0.73143 0.6696 Uncertain 1_169890933_A->G 1 169890933 169890933 A G snp 1181.77 0/1 99 102 54 48 0.47 intronic rs518928 KIFAP3 AU NM_014970 exon1 c.106+11A>G 0.95647 0.9901 0.929340 0.9273 0.9886 Uncertain 1_169891057_T->- 1 169891057 169891057 T - indel 117.73 0/1 88 15 4 11 0.73 intronic rs3838393 KIFAP3 AU NM_014970 exon1 c.106+135delT Uncertain 1_169941408_T->C 1 169941408 169941408 T C snp 99.28 1/1 9 3 0 3 1.0 intronic rs688565 KIFAP3 AU NM_014970 exon4 c.50837-245T>C 0.984225 1 Uncertain 1_169941761_A->T 1 169941761 169941761 A T snp 388.77 1/1 30 12 0 12 1.0 intronic rs511443 KIFAP3 AU NM_014970 exon4 c.50923+22A>T 0.957668 0.998 0.930693 0.9306 0.9985 Uncertain 1_169947146_-->A 1 169947146 169947146 - A indel 377.7 1/1 6 22 2 20 0.91 intronic rs11396984 KIFAP3 AU NM_014970 exon5 c.56409-79insA 0.697883 0.753 Uncertain 1_169951748_A->G 1 169951748 169951748 A G snp 547.77 1/1 42 15 0 15 1.0 intronic rs638486 KIFAP3 AU NM_014970 exon7 c.61026-94A>G 0.957867 0.998 Uncertain 1_169952385_G->T 1 169952385 169952385 G T snp 1976.77 1/1 99 66 0 66 1.0 intronic rs2057249 KIFAP3 AU NM_014970 exon8 c.61594-25G>T 0.958267 0.998 0.930242 0.9297 0.9984 Uncertain 1_169953653_T->C 1 169953653 169953653 T C snp 308.77 0/1 99 21 8 13 0.62 intronic rs2273459 KIFAP3 AU NM_014970 exon9 c.62906-69T>C 0.0397364 0.0377 Uncertain 1_169985559_T->C 1 169985559 169985559 T C snp 1144.77 0/1 99 121 67 54 0.45 intronic rs16862931 KIFAP3 AU NM_014970 exon11 c.94786-43T>C 0.0573083 0.124 0.026142 0.0212 0.1286 Uncertain 1_170135669_C->T 1 170135669 170135669 C T snp 1227.77 1/1 87 46 0 46 1.0 exonic rs6427234 METTL11B AU synonymous SNV NM_001136107 exon3 c.C357T p.C119C 0.291134 0.1349 0.337714 0.2695 0.1587 Uncertain 1_170135760_T->C 1 170135760 170135760 T C snp 2566.77 1/1 99 91 0 91 1.0 exonic rs6427235 METTL11B AU nonsynonymous SNV NM_001136107 exon3 c.T448C p.S150P 0.291334 0.1349 0.337714 0.2670 0.1561 0.3 T 0.0 P -0.933 T 0.001 T 0.001 T Pathogenic 1_170135765_T->C 1 170135765 170135765 T C snp 2617.77 1/1 99 92 0 92 1.0 exonic rs6669514 METTL11B AU synonymous SNV NM_001136107 exon3 c.T453C p.F151F 0.265575 0.1349 0.295883 0.2342 0.1561 Uncertain 1_170501385_A->C 1 170501385 170501385 A C snp 1320.77 1/1 93 50 0 50 1.0 exonic rs7531125 GORAB AR synonymous SNV NM_152281 exon1 c.A96C p.G32G 0.927516 1 0.935491 0.9797 1 Uncertain 1_170502517_A->G 1 170502517 170502517 A G snp 219.84 1/1 18 7 0 7 1.0 intronic rs1412892 GORAB AR NM_001146039 exon1 c.136+1092A>G 0.921526 1 Uncertain 1_170508755_-->T 1 170508755 170508755 - T indel 382.73 0/1 87 25 4 21 0.84 intronic rs141412003 GORAB AR NM_001146039 exon2 c.7419+47insT 0.240216 0.5724 0.145547 0.2400 0.6292 Uncertain 1_170511604_T->C 1 170511604 170511604 T C snp 627.77 0/1 99 53 28 25 0.47 intronic rs7538037 GORAB AR NM_001146039 exon3 c.10342-27T>C 0.369808 0.6776 0.253462 0.3837 0.7106 Uncertain 1_170521376_G->A 1 170521376 170521376 G A snp 6353.77 1/1 99 219 0 219 1.0 exonic rs913257 GORAB AR nonsynonymous SNV NM_152281 exon5 c.G958A p.E320K 0.592652 0.877 0.485853 0.5394 0.9121 0.09 T 1.000 P -1.034 T 0.777 T 0.112 P Pathogenic 1_170916646_G->T 1 170916646 170916646 G T snp 1522.77 0/1 99 179 110 69 0.39 intronic rs4656817 MROH9 AU NM_025063 exon3 c.1970-21G>T 0.250399 0.3204 0.178035 0.2321 0.3466 Uncertain 1_170993444_-->GT 1 170993444 170993444 - GT indel 363.73 1/1 33 11 0 11 1.0 intronic rs3077629 MROH9 AU NM_001163629 exon18 c.78838-91insGT Uncertain 1_171080080_G->A 1 171080080 171080080 G A snp 964.77 0/1 99 89 49 40 0.45 exonic rs1736557 FMO3 AR nonsynonymous SNV NM_006894 exon6 c.G769A p.V257M 0.0976438 0.2054 0.058435 0.0805 0.2004 0.1 T 0.0 P -1.097 T 0.043 T 0.01 T CLINSIG=pathogenic;CLNDBN=Trimethylaminuria;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000017698.26;CLNDSDB=GeneReviews:MedGen:OMIM:SNOMED_CT;CLNDSDBID=NBK1103:C0342739:602079:237959005 ID=CM033906;DIS=FMO3 variant;TAG=FP;PUB=12527699 FP Pathogenic 1_171112490_C->T 1 171112490 171112490 C T snp 1151.77 0/1 99 95 46 49 0.52 ncRNA_intronic rs1736565 FMO6P AU 0.637979 0.5823 0.6040 0.6932 0.27 T 1.0 P Uncertain 1_171130599_ACACA->- 1 171130599 171130603 ACACA - indel 1508.73 1/1 63 23 0 23 1.0 ncRNA_exonic rs145126383 FMO6P AU 0.420927 0.2589 Uncertain 1_171154959_A->G 1 171154959 171154959 A G snp 2798.77 1/1 99 106 0 106 1.0 exonic rs2020870 FMO2 AU unknown 0.0920527 0.1508 0.067123 0.0815 0.1343 0.01 T 1.000 P -0.445 T 0.402 T 0.46 T ID=CM033897;DIS=FMO2 variant;TAG=FP;PUB=12527699 FP Uncertain 1_171155103_C->T 1 171155103 171155103 C T snp 225.84 1/1 18 7 0 7 1.0 intronic rs6657314 FMO2 AU NM_001460 exon2 c.132+119C>T 0.654153 0.6042 Uncertain 1_171168584_C->T 1 171168584 171168584 C T snp 2088.77 1/1 99 73 0 73 1.0 exonic rs2020862 FMO2 AU unknown 0.472843 0.5456 0.378825 0.3960 0.5607 0 D 1.000 P -0.027 T 0.238 T 0.366 T ID=CM033900;DIS=FMO2 variant;TAG=FP;PUB=12527699 FP Uncertain 1_171168585_A->G 1 171168585 171168585 A G snp 2108.77 1/1 99 73 0 73 1.0 exonic rs2020861 FMO2 AU unknown 0.589257 0.6032 0.502845 0.5021 0.6039 Uncertain 1_171168693_C->T 1 171168693 171168693 C T snp 372.77 1/1 30 11 0 11 1.0 intronic rs7542361 FMO2 AU NM_001460 exon5 c.13775+66C>T 0.130391 0.1438 Uncertain 1_171177119_T->C 1 171177119 171177119 T C snp 314.78 1/1 24 11 0 11 1.0 intronic rs2075989 FMO2 AU NM_001301347 exon6 c.3893+190T>C 0.102436 0.1429 Uncertain 1_171227216_T->C 1 171227216 171227216 T C snp 685.77 0/1 99 73 41 32 0.44 splicing rs10912675 FMO1 AU NM_001282692 exon1 c.144-142T>C 0.419329 0.1855 0.413271 0.3217 0.1973 ID=CR114770;DIS=Nicotine dependence, association with;TAG=DP;PUB=21540762 DP Pathogenic 1_171250216_T->C 1 171250216 171250216 T C snp 913.77 0/1 99 69 31 38 0.55 intronic rs16864312 FMO1 AU NM_002021 exon6 c.22898+92T>C 0.0351438 0.0149 Uncertain 1_171251196_A->G 1 171251196 171251196 A G snp 2550.77 0/1 99 179 74 105 0.59 exonic rs16864314 FMO1 AU nonsynonymous SNV NM_002021 exon7 c.A907G p.I303V 0.0527157 0.0149 0.047363 0.0149 0.0086 1 T 0.000 P -0.973 T 0.005 T 0.114 T ID=CM033895;DIS=FMO1 variant;TAG=FP;PUB=12527699 FP Pathogenic 1_171251509_G->T 1 171251509 171251509 G T snp 331.77 0/1 99 30 16 14 0.47 intronic rs12091482 FMO1 AU NM_002021 exon7 c.24246+37G>T 0.267173 0.0367 0.278026 0.1711 0.0302 Uncertain 1_171252102_C->T 1 171252102 171252102 C T snp 56.74 1/1 6 2 0 2 1.0 intronic rs7512853 FMO1 AU NM_002021 exon8 c.25056-180C>T 0.267572 0.0367 Uncertain 1_171252287_A->G 1 171252287 171252287 A G snp 663.77 0/1 99 52 19 33 0.63 exonic rs1126692 FMO1 AU synonymous SNV NM_002021 exon8 c.A1188G p.V396V 0.250599 0.0367 0.263417 0.1635 0.0290 Uncertain 1_171254804_G->A 1 171254804 171254804 G A snp 111.77 0/1 64 6 2 4 0.67 UTR3 rs28360434 FMO1 AU 0.0385383 0.0149 Uncertain 1_171254816_G->A 1 171254816 171254816 G A snp 56.74 1/1 6 2 0 2 1.0 UTR3 rs28360435 FMO1 AU 0.0385383 0.0149 Uncertain 1_171293464_T->C 1 171293464 171293464 T C snp 2274.77 0/1 99 236 133 103 0.44 intronic rs45452395 FMO4 AU NM_002022 exon5 c.4475+25T>C 0.0509185 0.0159 0.047670 0.0161 0.0092 Uncertain 1_171293470_T->C 1 171293470 171293470 T C snp 2222.77 0/1 99 228 129 99 0.43 intronic rs45560645 FMO4 AU NM_002022 exon5 c.4475+31T>C 0.0509185 0.0159 0.048747 0.0161 0.0092 Uncertain 1_171300959_T->C 1 171300959 171300959 T C snp 731.77 0/1 99 55 27 28 0.51 intronic rs2294482 FMO4 AU NM_002022 exon6 c.11957+38T>C 0.284545 0.4365 0.204829 0.2661 0.4636 Uncertain 1_171301033_C->G 1 171301033 171301033 C G snp 228.77 0/1 99 14 7 7 0.5 intronic rs2294483 FMO4 AU NM_002022 exon6 c.11957+112C>G 0.566094 0.4454 Uncertain 1_171302094_A->C 1 171302094 171302094 A C snp 174.9 1/1 15 5 0 5 1.0 intronic rs4140632 FMO4 AU NM_002022 exon7 c.13083+47A>C 0.58766 0.4603 0.562010 0.5387 0.5319 Uncertain 1_171303925_C->T 1 171303925 171303925 C T snp 4138.77 1/1 99 155 0 155 1.0 intronic rs3820170 FMO4 AU NM_002022 exon8 c.14938+23C>T 0.541733 0.4563 0.497540 0.4816 0.4818 Uncertain 1_171311003_A->C 1 171311003 171311003 A C snp 4011.77 1/1 99 145 1 144 0.99 UTR3 rs1042772 FMO4 AU 0.575479 0.4206 0.546988 0.5143 0.4468 Uncertain 1_171482686_A->T 1 171482686 171482686 A T snp 1707.77 1/1 99 55 0 55 1.0 intronic rs2294292 PRRC2C AU NM_015172 exon3 c.1084+375A>T 0.135383 0.0635 Uncertain 1_171482699_G->C 1 171482699 171482699 G C snp 1307.77 1/1 96 39 0 39 1.0 intronic rs2294293 PRRC2C AU NM_015172 exon3 c.1084+388G>C 0.133986 0.0625 Uncertain 1_171483717_A->C 1 171483717 171483717 A C snp 1887.77 1/1 99 75 0 75 1.0 exonic rs1055417 PRRC2C AU synonymous SNV NM_015172 exon4 c.A327C p.A109A 0.128195 0.0625 0.142680 0.2280 0.1285 Uncertain 1_171496895_A->G 1 171496895 171496895 A G snp 187.9 1/1 15 7 0 7 1.0 intronic rs10753126 PRRC2C AU NM_015172 exon11 c.15702-34A>G 0.810903 0.8988 0.802058 0.8396 0.8986 Uncertain 1_171505524_G->A 1 171505524 171505524 G A snp 154.9 1/1 15 6 0 6 1.0 intronic rs12139715 PRRC2C AU NM_015172 exon14 c.24190+107G>A 0.130192 0.0625 Uncertain 1_171509058_G->A 1 171509058 171509058 G A snp 250.8 1/1 21 8 0 8 1.0 intronic rs2015996 PRRC2C AU NM_015172 exon16 c.27882-51G>A 0.807508 0.8958 Uncertain 1_171509327_G->A 1 171509327 171509327 G A snp 4338.77 1/1 99 149 0 149 1.0 exonic rs760644 PRRC2C AU nonsynonymous SNV NM_015172 exon16 c.G2716A p.A906T 0.800919 0.8958 0.794787 0.8174 0.8896 0.86 T 0.0 P -0.930 T 0.001 T 0.002 T Pathogenic 1_171511039_C->G 1 171511039 171511039 C G snp 5917.77 1/1 99 205 0 205 1.0 exonic rs1687064 PRRC2C AU synonymous SNV NM_015172 exon16 c.C4428G p.S1476S 0.810304 0.8958 0.797478 0.8193 0.8893 1.0 P -1.026 T Likely benign 1_171514731_C->G 1 171514731 171514731 C G snp 1946.77 1/1 99 75 0 75 1.0 exonic rs235468 PRRC2C AU nonsynonymous SNV NM_015172 exon17 c.C4871G p.S1624C 0.804712 0.8968 0.792865 0.8232 0.8937 0.13 T 0.0 P -0.828 T 0.547 P 0.416 P Pathogenic 1_171519487_A->C 1 171519487 171519487 A C snp 486.77 1/1 36 17 0 17 1.0 intronic rs235470 PRRC2C AU NM_015172 exon18 c.38152+108A>C 0.801318 0.8958 Uncertain 1_171526570_G->A 1 171526570 171526570 G A snp 7487.77 1/1 99 250 2 248 0.99 exonic rs1687057 PRRC2C AU synonymous SNV NM_015172 exon19 c.G5313A p.P1771P 0.810304 0.8958 0.810011 0.8393 0.8738 0.375 P -1.013 T Likely benign 1_171527322_A->G 1 171527322 171527322 A G snp 1301.77 1/1 96 41 0 41 1.0 intronic rs235482 PRRC2C AU NM_015172 exon19 c.46055+40A>G 0.810503 0.8968 0.798000 0.8177 0.8913 Uncertain 1_171546911_-->A 1 171546911 171546911 - A indel 388.73 1/1 60 23 0 23 1.0 intronic PRRC2C AU NM_015172 exon26 c.65549+135insA Uncertain 1_171546912_T->A 1 171546912 171546912 T A snp 277.77 0/1 44 10 2 8 0.8 intronic rs10659826 PRRC2C AU NM_015172 exon26 c.65549+136T>A Uncertain 1_171548772_A->G 1 171548772 171548772 A G snp 425.77 1/1 33 11 0 11 1.0 intronic rs235488 PRRC2C AU NM_015172 exon27 c.67378+167A>G 0.13099 0.0625 Uncertain 1_171548868_T->C 1 171548868 171548868 T C snp 1307.77 1/1 99 41 0 41 1.0 intronic rs235489 PRRC2C AU NM_015172 exon28 c.67739-98T>C 0.816893 0.8988 Uncertain 1_171553778_A->G 1 171553778 171553778 A G snp 130.03 1/1 12 4 0 4 1.0 intronic rs235495 PRRC2C AU NM_015172 exon30 c.72438+113A>G 0.127995 0.0625 Uncertain 1_171556165_G->C 1 171556165 171556165 G C snp 4403.77 1/1 99 169 0 169 1.0 exonic rs235501 PRRC2C AU synonymous SNV NM_015172 exon31 c.G7767C p.S2589S 0.793131 0.8958 0.788021 0.8190 0.8898 1.0 P -1.031 T Likely benign 1_171558516_C->T 1 171558516 171558516 C T snp 1595.77 1/1 99 50 0 50 1.0 intronic rs235503 PRRC2C AU NM_015172 exon33 c.76417+872C>T 0.796925 0.8978 0.8503 0.865 Uncertain 1_171607702_C->T 1 171607702 171607702 C T snp 2354.77 1/1 99 92 0 92 1.0 intronic rs2032555 MYOC AD NM_000261 exon2 c.2672-34C>T 0.784545 0.7917 0.758804 0.7287 0.7766 ID=CS066300;DIS=Glaucoma 1, open angle, association with;TAG=DP;PUB=16863615 DP Uncertain 1_171621525_C->T 1 171621525 171621525 C T snp 6030.77 1/1 99 219 2 217 0.99 exonic rs2234926 MYOC AD nonsynonymous SNV NM_000261 exon1 c.G227A p.R76K 0.136182 0.0794 0.098185 0.1501 0.0834 0.03 T 0.005 P -0.614 T 0.984 D 0.956 D ID=CM1111597;DIS=Glaucoma, primary congenital;TAG=DM?;PUB=21168818 DM? Pathogenic 1_171679958_G->A 1 171679958 171679958 G A snp 1070.77 0/1 99 79 34 45 0.57 splicing rs10913530 VAMP4 AU NM_003762 exon4 c.6309+4G>A 0.351038 0.3829 0.362483 0.3141 0.3956 Pathogenic 1_171707272_T->C 1 171707272 171707272 T C snp 93.28 1/1 9 3 0 3 1.0 intronic rs10753179 VAMP4 AU NM_003762 exon7 c.33843-216T>C 0.632188 0.5685 Uncertain 1_171750774_C->T 1 171750774 171750774 C T snp 80.77 0/1 63 5 2 3 0.6 UTR5 rs2294717 METTL13 AU 0.306909 0.5238 Uncertain 1_171751051_A->G 1 171751051 171751051 A G snp 2082.77 0/1 99 124 45 79 0.64 UTR5 rs2294719 METTL13 AU 0.485623 0.6567 Uncertain 1_171751236_T->C 1 171751236 171751236 T C snp 565.77 0/1 99 40 15 25 0.63 exonic rs2294720 METTL13 AU synonymous SNV NM_001007239 exon1 c.T129C p.H43H 0.533746 0.6577 0.547901 0.4706 0.6442 Uncertain 1_171753039_A->G 1 171753039 171753039 A G snp 1465.77 0/1 99 132 70 62 0.47 exonic rs2232816 METTL13 AU nonsynonymous SNV NM_001007239 exon2 c.A313G p.M105V 0.306909 0.5238 0.284792 0.2858 0.5373 1 T 0.274 P -1.067 T 0.023 T 0.02 T Pathogenic 1_171755170_G->A 1 171755170 171755170 G A snp 1570.77 0/1 99 147 78 69 0.47 exonic rs2232818 METTL13 AU synonymous SNV NM_001007239 exon3 c.G597A p.S199S 0.318091 0.5238 0.297478 0.2904 0.5345 Uncertain 1_171763522_C->A 1 171763522 171763522 C A snp 1231.77 0/1 99 102 55 47 0.46 intronic rs909958 METTL13 AU NM_015935 exon7 c.12428-13C>A 0.313698 0.5228 0.294249 0.2887 0.5348 Uncertain 1_171765591_G->A 1 171765591 171765591 G A snp 1412.77 0/1 99 155 88 67 0.43 intronic rs2232826 METTL13 AU NM_015935 exon8 c.14514-30G>A 0.296725 0.5228 0.275334 0.2841 0.5349 Uncertain 1_171810682_G->A 1 171810682 171810682 G A snp 422.77 0/1 99 25 9 16 0.64 UTR5 rs114247451 DNM3 AU 0.114816 0.0268 Uncertain 1_171810960_A->G 1 171810960 171810960 A G snp 200.77 0/1 60 8 2 6 0.75 splicing rs12239702 DNM3 AU NM_001278252 exon1 c.161+3A>G 0.632788 0.7907 0.610879 0.5981 0.7970 Pathogenic 1_172011059_G->A 1 172011059 172011059 G A snp 701.77 0/1 63 30 4 26 0.87 intronic rs3736791 DNM3 AU NM_001278252 exon8 c.200352-89G>A 0.442093 0.622 Uncertain 1_172013849_G->T 1 172013849 172013849 G T snp 50.74 1/1 6 2 0 2 1.0 intronic rs1555382 DNM3 AU NM_001278252 exon9 c.202796+257G>T 0.452676 0.6746 Uncertain 1_172038079_T->C 1 172038079 172038079 T C snp 991.77 0/1 99 80 41 39 0.49 intronic rs12760234 DNM3 AU NM_001278252 exon11 c.227249+34T>C 0.247404 0.1637 0.286705 0.3702 0.1722 Uncertain 1_172100831_G->A 1 172100831 172100831 G A snp 611.77 0/1 99 44 19 25 0.57 intronic rs2421987 DNM3 AU NM_001278252 exon14 c.289632+403G>A 0.3127 0.4663 Uncertain 1_172222630_CTCTCCTCTCCTCTCCTCTCCTCTC->- 1 172222630 172222654 CTCTCCTCTCCTCTCCTCTCCTCTC - indel 3027.73 ./1 99 16 0 16 1.0 intronic DNM3 AU NM_015569 exon15 c.411916-82_411916-58delCTCTCCTCTCCTCTCCTCTCCTCTC Uncertain 1_172222630_CTCTC->- 1 172222630 172222634 CTCTC - indel 3027.73 ./1 99 16 0 16 1.0 intronic rs374567538 DNM3 AU NM_015569 exon15 c.411916-82_411916-78delCTCTC 0.49381 0.4861 Uncertain 1_172356437_A->G 1 172356437 172356437 A G snp 2403.77 1/1 99 77 0 77 1.0 exonic rs6688654 DNM3 AU synonymous SNV NM_015569 exon19 c.A2223G p.T741T 0.996605 1 0.989369 0.9919 1 Uncertain 1_172410967_G->A 1 172410967 172410967 G A snp 2344.77 1/1 99 82 2 80 0.98 exonic rs1063412 PIGC AU nonsynonymous SNV NM_002642 exon2 c.C796T p.P266S 0.454273 0.6597 0.419652 0.5482 0.6374 0.13 T 1.0 P -0.772 T 1.0 D 1.0 D Pathogenic 1_172411496_A->G 1 172411496 172411496 A G snp 603.77 1/1 45 19 0 19 1.0 exonic rs2230471 PIGC AU synonymous SNV NM_002642 exon2 c.T267C p.G89G 0.924121 1 0.853760 0.8747 0.9995 Uncertain 1_172417781_A->G 1 172417781 172417781 A G snp 454.77 1/1 36 12 0 12 1.0 intronic rs2157451 C1orf105 AU NM_139240 exon3 c.27646+110A>G 0.947484 1 Uncertain 1_172425529_C->G 1 172425529 172425529 C G snp 5608.77 1/1 99 211 2 209 0.99 intronic rs2285170 C1orf105 AU NM_139240 exon4 c.35529-25C>G 0.419129 0.6567 0.367061 0.4924 0.6326 Uncertain 1_172431210_G->A 1 172431210 172431210 G A snp 507.77 1/1 39 16 0 16 1.0 intronic rs4916261 C1orf105 AU NM_139240 exon5 c.41292-107G>A 0.848043 1 Uncertain 1_172434375_G->A 1 172434375 172434375 G A snp 1507.77 1/1 99 46 0 46 1.0 intronic rs2901655 C1orf105 AU NM_139240 exon6 c.44413-63G>A 0.847843 1 0.761279 Uncertain 1_172434812_C->T 1 172434812 172434812 C T snp 4431.77 1/1 99 168 0 168 1.0 intronic rs2901656 C1orf105 AU NM_139240 exon6 c.44478+309C>T 0.475639 0.6935 0.4491 0.6566 Uncertain 1_172437592_G->A 1 172437592 172437592 G A snp 3133.77 1/1 99 118 0 118 1.0 exonic rs1129942 C1orf105 AU nonsynonymous SNV NM_001300760 exon5 c.G380A p.S127N 0.841254 1 0.758881 0.8251 0.9992 0.12 T 1.000 P -1.073 T 0.04 T 0.027 T Pathogenic 1_172501677_C->T 1 172501677 172501677 C T snp 2279.77 0/1 99 188 89 99 0.53 upstream rs183778659 SUCO AU 0.00159744 0.0069 0.0001 0.0016 0.24 T 1.000 N -1.017 T Uncertain 1_172502041_A->G 1 172502041 172502041 A G snp 54.74 1/1 6 2 0 2 1.0 upstream rs10798043 SUCO AU 1 1 Uncertain 1_172634734_T->C 1 172634734 172634734 T C snp 1447.77 1/1 99 45 0 45 1.0 intronic rs2639653 FASLG AR,AD NM_001302746 exon3 c.6420-27T>C 0.995807 1 0.986929 0.9905 1 Uncertain 1_173457017_C->T 1 173457017 173457017 C T snp 40.77 0/1 69 5 3 2 0.4 UTR3 rs4611 PRDX6 AU 0.416134 0.5853 0.369829 0.2930 0.6219 Uncertain 1_173470105_A->G 1 173470105 173470105 A G snp 430.77 0/1 99 46 27 19 0.41 UTR3 rs12065426 SLC9C2 AU 0.234425 0.2986 Uncertain 1_173472551_T->C 1 173472551 173472551 T C snp 839.77 0/1 99 59 23 36 0.61 intronic rs10912625 SLC9C2 AU NM_178527 exon2 c.2233+86T>C 0.304513 0.6448 Uncertain 1_173472689_A->G 1 173472689 173472689 A G snp 94.28 1/1 9 3 0 3 1.0 intronic rs10912626 SLC9C2 AU NM_178527 exon2 c.2233+224A>G 0.304513 0.6448 Uncertain 1_173474262_G->A 1 173474262 173474262 G A snp 291.77 0/1 99 20 10 10 0.5 intronic rs6687872 SLC9C2 AU NM_178527 exon3 c.4153-123G>A 0.304313 0.6448 Uncertain 1_173474429_T->C 1 173474429 173474429 T C snp 3073.77 0/1 99 249 114 135 0.54 exonic rs12026637 SLC9C2 AU synonymous SNV NM_178527 exon26 c.A3267G p.Q1089Q 0.304313 0.6448 0.153314 0.2702 0.6488 Uncertain 1_173478648_T->C 1 173478648 173478648 T C snp 142.77 0/1 99 11 5 6 0.55 intronic rs10737303 SLC9C2 AU NM_178527 exon5 c.8474-58T>C 0.449481 0.6448 Uncertain 1_173490408_AA->- 1 173490408 173490409 AA - indel 766.73 ./1 99 36 0 36 1.0 intronic rs200616970 SLC9C2 AU NM_178527 exon7 c.20207-31_20207-30delAA 0.367013 0.4673 0.3343 0.4639 Uncertain 1_173490408_A->- 1 173490408 173490408 A - indel 766.73 ./1 99 36 0 36 1.0 intronic rs530354410 SLC9C2 AU NM_178527 exon7 c.20207-31delA 0.345048 0.4395 0.3128 0.32 Uncertain 1_173493312_A->G 1 173493312 173493312 A G snp 222.84 1/1 18 6 0 6 1.0 intronic rs10912633 SLC9C2 AU NM_178527 exon8 c.23001+79A>G 0.491014 0.9395 Uncertain 1_173494210_C->A 1 173494210 173494210 C A snp 166.77 0/1 99 17 11 6 0.35 intronic rs6696443 SLC9C2 AU NM_178527 exon9 c.23834+144C>A 0.229832 0.2946 Uncertain 1_173506199_G->A 1 173506199 173506199 G A snp 607.77 0/1 99 55 27 28 0.51 intronic rs117086900 SLC9C2 AU NM_178527 exon15 c.35946+21G>A 0.0139776 0.0694 0.0041 0.0530 Uncertain 1_173516871_G->C 1 173516871 173516871 G C snp 1617.77 0/1 99 187 109 78 0.42 exonic rs16846206 SLC9C2 AU nonsynonymous SNV NM_178527 exon13 c.C1514G p.A505G 0.334665 0.6448 0.181070 0.2771 0.6492 0.27 T 0.001 P -0.947 T 0.167 T 0.034 T Pathogenic 1_173516903_A->G 1 173516903 173516903 A G snp 1556.77 0/1 99 162 94 68 0.42 exonic rs10494490 SLC9C2 AU synonymous SNV NM_178527 exon13 c.T1482C p.N494N 0.485224 0.6448 0.338613 0.3220 0.6492 Uncertain 1_173526449_T->C 1 173526449 173526449 T C snp 840.77 0/1 99 51 17 34 0.67 intronic rs201046133 SLC9C2 AU NM_178527 exon19 c.56246-29T>C 0.000199681 0.001 0.0003 0.0036 Uncertain 1_173552783_G->A 1 173552783 173552783 G A snp 842.77 0/1 99 47 13 34 0.72 intronic rs12032386 SLC9C2 AU NM_178527 exon23 c.82529+22G>A 0.525958 0.6895 0.386371 0.3569 0.6831 Uncertain 1_173556699_G->T 1 173556699 173556699 G T snp 121.03 1/1 12 5 0 5 1.0 intronic rs301698 SLC9C2 AU NM_178527 exon24 c.86571-104G>T 0.985423 1 Uncertain 1_173606179_A->T 1 173606179 173606179 A T snp 620.77 0/1 99 46 23 23 0.5 UTR3 rs12065988 LOC730159 AU 0.360623 0.2718 0.1902 0.3456 Uncertain 1_173606207_T->A 1 173606207 173606207 T A snp 325.77 0/1 99 19 9 10 0.53 UTR3 rs12067170 LOC730159 AU 0.474441 0.5962 0.2847 0.6591 Uncertain 1_173702764_C->T 1 173702764 173702764 C T snp 194.77 0/1 99 31 22 9 0.29 intronic rs45467799 KLHL20 AU NM_014458 exon3 c.17669-87C>T 0.21226 0.2758 Uncertain 1_173724942_A->G 1 173724942 173724942 A G snp 227.77 0/1 99 21 13 8 0.38 intronic rs2273366 KLHL20 AU NM_014458 exon6 c.39879-119A>G 0.21246 0.2758 Uncertain 1_173797451_T->C 1 173797451 173797451 T C snp 1881.77 0/1 99 182 91 91 0.5 intronic rs55878143 DARS2 AR NM_018122 exon3 c.3103-19T>C 0.000998403 0.2495 0.2967 CLINSIG=non-pathogenic;CLNDBN=not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000124657.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Uncertain 1_173825692_T->G 1 173825692 173825692 T G snp 95.77 0/1 99 9 5 4 0.44 intronic rs2295366 DARS2 AR NM_018122 exon16 c.31436-111T>G 0.342252 0.2768 Uncertain 1_173833451_G->A 1 173833451 173833451 G A snp 1025.77 0/1 99 74 33 41 0.55 ncRNA_intronic rs189896715 GAS5 AU 0.000199681 0.001 Uncertain 1_173835211_C->T 1 173835211 173835211 C T snp 1293.77 0/1 99 94 45 49 0.52 ncRNA_intronic rs2067079 GAS5 AU 0.192692 0.2778 0.182072 0.2157 0.3060 Uncertain 1_173839240_C->T 1 173839240 173839240 C T snp 260.77 0/1 99 16 7 9 0.56 intronic rs1322774 ZBTB37 AU 0.335264 0.2748 Uncertain 1_173842467_A->G 1 173842467 173842467 A G snp 333.77 0/1 88 13 3 10 0.77 intronic rs9286895 ZBTB37 AU NM_001122770 exon4 c.3241-137A>G 0.535144 0.5913 Uncertain 1_173854659_C->T 1 173854659 173854659 C T snp 40.77 0/1 69 5 3 2 0.4 intronic rs4652283 ZBTB37 AU NM_001122770 exon5 c.15410-114C>T 0.240815 0.2232 Uncertain 1_173855298_A->T 1 173855298 173855298 A T snp 780.77 0/1 99 63 30 33 0.52 UTR3 rs1322775 ZBTB37 AU 0.535144 0.5913 0.455410 0.4541 0.6034 Uncertain 1_173876561_C->G 1 173876561 173876561 C G snp 1029.77 0/1 99 80 40 40 0.5 intronic rs677 SERPINC1 AR,AD NM_000488 exon2 c.3561-26C>G 0.116414 0.2242 0.087883 0.1245 0.2516 Uncertain 1_173878832_T->C 1 173878832 173878832 T C snp 2502.77 0/1 99 243 130 113 0.47 exonic rs5878 SERPINC1 AR,AD synonymous SNV NM_000488 exon5 c.A1011G p.Q337Q 0.535743 0.5923 0.488236 0.4029 0.6493 Uncertain 1_173878862_T->C 1 173878862 173878862 T C snp 2346.77 0/1 99 219 120 99 0.45 exonic rs5877 SERPINC1 AR,AD synonymous SNV NM_000488 exon5 c.A981G p.V327V 0.545327 0.619 0.483623 0.4079 0.6744 Uncertain 1_173907812_C->T 1 173907812 173907812 C T snp 631.77 0/1 99 69 42 27 0.39 UTR3 rs6703547 RC3H1 AU 0.332668 0.2024 0.312394 0.1848 0.2251 Uncertain 1_173921292_G->A 1 173921292 173921292 G A snp 43.77 0/1 72 40 33 7 0.17 intronic rs751536704 RC3H1 AU NM_001300850 exon7 c.13418+16G>A 0.0529 0.0887 Uncertain 1_173921301_C->A 1 173921301 173921301 C A snp 66.77 0/1 95 24 16 8 0.33 intronic rs199928760 RC3H1 AU NM_001300850 exon7 c.13418+25C>A 0.542133 0.4782 0.0673 0.1120 Uncertain 1_173933901_C->T 1 173933901 173933901 C T snp 40.77 0/1 33 3 1 2 0.67 intronic rs80142373 RC3H1 AU NM_001300850 exon11 c.26118-75C>T 0.116014 0.3224 Uncertain 1_173947571_T->C 1 173947571 173947571 T C snp 1971.77 0/1 99 175 92 83 0.47 intronic rs78576697 RC3H1 AU NM_001300850 exon14 c.39767-54T>C 0.125799 0.3224 Uncertain 1_173950205_T->C 1 173950205 173950205 T C snp 220.77 0/1 99 15 7 8 0.53 intronic rs7530661 RC3H1 AU NM_001300850 exon15 c.42289+58T>C 0.333666 0.2024 Uncertain 1_173952539_T->A 1 173952539 173952539 T A snp 3309.77 1/1 99 124 0 124 1.0 intronic rs6686083 RC3H1 AU NM_001300850 exon17 c.44697-16T>A 0.48742 0.5248 0.422805 0.3225 0.5800 Uncertain 1_173952836_A->G 1 173952836 173952836 A G snp 1040.77 0/1 99 84 38 46 0.55 intronic rs61826774 RC3H1 AU NM_001300850 exon17 c.44937+41A>G 0.16873 0.2024 0.140188 0.1361 0.2254 Uncertain 1_173953860_G->C 1 173953860 173953860 G C snp 496.77 0/1 99 36 20 16 0.44 intronic rs60551050 RC3H1 AU NM_001300850 exon18 c.45899+103G>C 0.16873 0.2024 Uncertain 1_173961807_-->AC 1 173961807 173961807 - AC indel 124.73 0/1 99 18 12 6 0.33 intronic rs34709821 RC3H1 AU NM_001300850 exon19 c.54034-85insAC Uncertain 1_173961835_C->G 1 173961835 173961835 C G snp 49.77 0/1 78 27 22 5 0.19 intronic rs200607410 RC3H1 AU NM_001300850 exon19 c.54034-57C>G Uncertain 1_173961835_-->AG 1 173961835 173961835 - AG indel 280.73 0/1 99 27 14 13 0.48 intronic rs765200828 RC3H1 AU NM_001300850 exon19 c.54034-57insAG Uncertain 1_173961837_C->G 1 173961837 173961837 C G snp 422.77 0/1 99 28 12 16 0.57 intronic rs6425268 RC3H1 AU NM_001300850 exon19 c.54034-55C>G 0.241014 0.3899 Uncertain 1_174219799_G->T 1 174219799 174219799 G T snp 1597.77 0/1 99 150 86 64 0.43 intronic rs41265242 RABGAP1L AU NM_014857 exon6 c.31475+29G>T 0.111222 0.2054 0.083731 0.1161 0.2235 Uncertain 1_174417231_G->A 1 174417231 174417231 G A snp 2578.77 1/1 99 85 0 85 1.0 UTR5 rs7516240 GPR52 AU 0.985224 1 0.968630 0.9677 0.9998 Uncertain 1_174927388_G->C 1 174927388 174927388 G C snp 772.77 1/1 57 21 0 21 1.0 intronic rs10798329 RABGAP1L AU NM_014857 exon21 c.739032+61G>C 0.986821 1 Uncertain 1_174959108_G->A 1 174959108 174959108 G A snp 2759.77 0/1 99 194 81 113 0.58 exonic rs41266060 RABGAP1L AU synonymous SNV NM_001243764 exon7 c.G732A p.P244P 0.138778 0.3254 0.1275 0.3394 Uncertain 1_174969271_C->T 1 174969271 174969271 C T snp 2372.77 1/1 99 82 1 81 0.99 UTR5 rs1046439 CACYBP AU 0.739617 0.6161 0.771684 0.6842 0.6325 Uncertain 1_174978038_G->A 1 174978038 174978038 G A snp 41.77 0/1 70 4 2 2 0.5 intronic rs61828157 CACYBP AU NM_014412 exon5 c.8526+196G>A 0.129792 0.2163 Uncertain 1_174978933_G->A 1 174978933 174978933 G A snp 964.77 0/1 99 117 76 41 0.35 intronic rs41266068 CACYBP AU NM_014412 exon6 c.9742-125G>A 0.131589 0.2262 Uncertain 1_174984070_T->- 1 174984070 174984070 T - indel 734.37 1/1 8 49 8 41 0.84 intronic rs368085151 MRPS14 AU NM_022100 exon1 c.183+83delT Uncertain 1_175049379_G->A 1 175049379 175049379 G A snp 1249.77 0/1 99 101 48 53 0.52 exonic rs16847812 TNN AU nonsynonymous SNV NM_022093 exon4 c.G865A p.D289N 0.127596 0.251 0.108181 0.1470 0.2260 0.1 T 1.000 P -1.095 T 0.109 T 0.25 T Pathogenic 1_175086461_A->G 1 175086461 175086461 A G snp 299.77 0/1 99 13 4 9 0.69 intronic rs6690229 TNN AU NM_022093 exon10 c.39787+120A>G 0.647963 0.4167 Uncertain 1_175087884_C->T 1 175087884 175087884 C T snp 1986.77 0/1 99 165 83 82 0.5 exonic rs2269654 TNN AU synonymous SNV NM_022093 exon11 c.C2574T p.G858G 0.172923 0.3452 0.094110 0.1745 0.3264 Uncertain 1_175087885_A->G 1 175087885 175087885 A G snp 1983.77 0/1 99 165 85 80 0.48 exonic rs6694078 TNN AU nonsynonymous SNV NM_022093 exon11 c.A2575G p.M859V 0.172923 0.3462 0.098954 0.1747 0.3271 0.51 T 0.0 P -0.966 T 0.0 T 0.001 T Pathogenic 1_175092674_C->T 1 175092674 175092674 C T snp 3522.77 1/1 99 121 0 121 1.0 exonic rs2285215 TNN AU nonsynonymous SNV NM_022093 exon12 c.C2789T p.P930L 0.598243 0.4921 0.623020 0.6033 0.5052 0.41 T 0.0 P -0.911 T 0.973 D 0.703 D Pathogenic 1_175092707_C->T 1 175092707 175092707 C T snp 1842.77 0/1 99 124 51 73 0.59 exonic rs10798333 TNN AU nonsynonymous SNV NM_022093 exon12 c.C2822T p.T941M 0.300319 0.0972 0.412809 0.3428 0.0872 0.08 T 0.006 P -0.974 T 0.538 P 0.292 P Pathogenic 1_175092840_T->C 1 175092840 175092840 T C snp 3284.77 1/1 99 121 0 121 1.0 intronic rs2072041 TNN AU NM_022093 exon12 c.46245+41T>C 0.598442 0.4931 0.622482 0.6040 0.5077 Uncertain 1_175095936_C->T 1 175095936 175095936 C T snp 77.77 0/1 67 5 2 3 0.6 intronic rs7515770 TNN AU NM_022093 exon13 c.49536-154C>T 0.277955 0.0962 Uncertain 1_175096333_A->G 1 175096333 175096333 A G snp 822.77 0/1 99 46 14 32 0.7 intronic rs2072040 TNN AU NM_022093 exon13 c.49667+112A>G 0.490216 0.6468 Uncertain 1_175096389_C->T 1 175096389 175096389 C T snp 37.77 0/1 66 4 2 2 0.5 intronic rs10798334 TNN AU NM_022093 exon13 c.49667+168C>T 0.483227 0.6508 Uncertain 1_175097331_G->A 1 175097331 175097331 G A snp 533.77 0/1 99 60 36 24 0.4 intronic rs10912891 TNN AU NM_022093 exon14 c.50746+31G>A 0.407548 0.3581 0.524527 0.5397 0.3149 Uncertain 1_175097349_C->T 1 175097349 175097349 C T snp 1356.77 1/1 99 50 0 50 1.0 intronic rs7547567 TNN AU NM_022093 exon14 c.50746+49C>T 0.666733 0.4871 0.694679 0.6505 0.5060 Uncertain 1_175097991_C->T 1 175097991 175097991 C T snp 142.77 0/1 99 10 5 5 0.5 intronic rs10798335 TNN AU NM_022093 exon15 c.51328+109C>T 0.484824 0.3581 Uncertain 1_175104790_T->C 1 175104790 175104790 T C snp 56.74 1/1 6 2 0 2 1.0 intronic rs4651323 TNN AU NM_022093 exon16 c.58426-190T>C 0.279153 0.3899 Uncertain 1_175104796_G->T 1 175104796 175104796 G T snp 126.03 1/1 12 4 0 4 1.0 intronic rs4651324 TNN AU NM_022093 exon16 c.58426-184G>T 0.840256 0.748 Uncertain 1_175105880_G->A 1 175105880 175105880 G A snp 1239.77 1/1 90 33 0 33 1.0 intronic rs2072037 TNN AU NM_022093 exon17 c.59402-76G>A 0.670128 0.4851 Uncertain 1_175105942_G->A 1 175105942 175105942 G A snp 3063.77 1/1 99 102 0 102 1.0 intronic rs4650703 TNN AU NM_022093 exon17 c.59402-14G>A 0.987819 1 0.973397 0.9758 1 Uncertain 1_175113578_T->C 1 175113578 175113578 T C snp 2824.77 1/1 99 103 0 103 1.0 exonic rs10912897 TNN AU synonymous SNV NM_022093 exon18 c.T3651C p.N1217N 0.986022 0.997 0.971321 0.9749 0.9941 Uncertain 1_175116046_-->T 1 175116046 175116046 - T indel 95.73 0/1 46 37 5 32 0.86 intronic rs11450833 TNN AU NM_022093 exon19 c.69512-20insT 0.466653 0.4524 0.403695 0.4314 0.4010 Uncertain 1_175116252_C->G 1 175116252 175116252 C G snp 1177.77 1/1 87 38 0 38 1.0 UTR3 rs4651335 TNN AU 0.851038 0.7331 0.887898 0.8533 0.7186 Uncertain 1_175129925_CTTCTTCTT->- 1 175129925 175129933 CTTCTTCTT - indel 1327.73 0/1 99 28 13 15 0.54 exonic rs150137790 KIAA0040 AU nonframeshift deletion NM_001162895 exon3 c.217_225del p.73_75del Uncertain 1_175129946_C->T 1 175129946 175129946 C T snp 404.77 0/1 99 40 22 18 0.45 exonic rs2072035 KIAA0040 AU synonymous SNV NM_001162895 exon3 c.G204A p.K68K 0.5907 0.5505 Uncertain 1_175129955_G->T 1 175129955 175129955 G T snp 529.77 0/1 99 45 22 23 0.51 exonic rs3208835 KIAA0040 AU nonsynonymous SNV NM_001162895 exon3 c.C195A p.N65K Pathogenic 1_175130204_G->A 1 175130204 175130204 G A snp 80.77 0/1 99 6 3 3 0.5 UTR5 rs1057239 KIAA0040 AU 0.314696 0.1438 Uncertain 1_175293424_T->C 1 175293424 175293424 T C snp 44.77 0/1 33 4 2 2 0.5 intronic rs2213635 TNR AU NM_003285 exon2 c.999-67T>C 0.766174 0.7877 Uncertain 1_175299301_T->C 1 175299301 175299301 T C snp 1756.77 0/1 99 167 91 76 0.46 exonic rs2027867 TNR AU synonymous SNV NM_003285 exon21 c.A3702G p.Q1234Q 0.765974 0.7887 0.751038 0.7452 0.8202 Uncertain 1_175323446_A->G 1 175323446 175323446 A G snp 310.77 0/1 99 23 13 10 0.43 intronic rs2301432 TNR AU NM_003285 exon6 c.31034-80A>G 0.748203 0.7956 Uncertain 1_175324519_CA->- 1 175324519 175324520 CA - indel 638.73 0/1 99 53 37 16 0.3 intronic rs55715761 TNR AU NM_003285 exon7 c.32146-119_32146-118delCA 0.678315 0.7738 Uncertain 1_175324521_A->T 1 175324521 175324521 A T snp 389.77 0/1 99 55 38 17 0.31 intronic rs55973835 TNR AU NM_003285 exon7 c.32146-117A>T 0.678315 0.7738 Uncertain 1_175324651_A->G 1 175324651 175324651 A G snp 1552.77 0/1 99 156 86 70 0.45 exonic rs2228359 TNR AU synonymous SNV NM_003285 exon17 c.T3237C p.D1079D 0.665735 0.7946 0.635476 0.6892 0.8223 Uncertain 1_175335412_A->C 1 175335412 175335412 A C snp 173.77 0/1 99 25 16 9 0.36 intronic rs1385540 TNR AU NM_003285 exon13 c.42782+138A>C 0.79393 0.7976 Uncertain 1_175336530_T->C 1 175336530 175336530 T C snp 803.77 0/1 99 82 48 34 0.41 intronic rs6697701 TNR AU NM_003285 exon14 c.43941+97T>C 0.685703 0.7976 Uncertain 1_175336619_T->C 1 175336619 175336619 T C snp 31.77 0/1 60 11 8 3 0.27 intronic rs6697801 TNR AU NM_003285 exon14 c.43941+186T>C 0.654153 0.7956 Uncertain 1_175348723_C->T 1 175348723 175348723 C T snp 1846.77 1/1 99 65 0 65 1.0 exonic rs859427 TNR AU nonsynonymous SNV NM_003285 exon9 c.G1928A p.R643K 0.696286 0.8065 0.662079 0.6728 0.8223 1 T 0.016 P -0.920 T 0.0 T 0.009 T ID=CM099896;DIS=Schizophrenia, association with;TAG=DP;PUB=19435634 DP Pathogenic 1_175349054_A->C 1 175349054 175349054 A C snp 192.77 0/1 60 8 2 6 0.75 intronic rs10912967 TNR AU NM_003285 exon15 c.56381+181A>C 0.204473 0.2024 Uncertain 1_175355128_C->G 1 175355128 175355128 C G snp 3532.77 1/1 99 119 1 118 0.99 intronic rs859436 TNR AU NM_003285 exon16 c.62675-39C>G 0.652157 0.7252 0.610411 0.6291 0.7161 Uncertain 1_175355152_C->T 1 175355152 175355152 C T snp 1839.77 0/1 99 165 86 79 0.48 intronic rs72723450 TNR AU NM_003285 exon16 c.62675-15C>T 0.204673 0.2163 0.191143 0.2116 0.1902 Uncertain 1_175355391_A->G 1 175355391 175355391 A G snp 3860.77 1/1 99 137 1 136 0.99 exonic rs859437 TNR AU synonymous SNV NM_003285 exon8 c.T1554C p.T518T 0.832867 0.8919 0.798401 0.8141 0.9041 Uncertain 1_175355618_T->C 1 175355618 175355618 T C snp 56.74 1/1 6 2 0 2 1.0 intronic rs859438 TNR AU NM_003285 exon16 c.62945+181T>C 0.704872 0.8135 Uncertain 1_175360690_C->T 1 175360690 175360690 C T snp 717.77 1/1 54 23 0 23 1.0 intronic rs859444 TNR AU NM_003285 exon17 c.68082+116C>T 0.673522 0.8145 Uncertain 1_175362736_G->A 1 175362736 175362736 G A snp 425.77 1/1 33 11 0 11 1.0 intronic rs3752517 TNR AU NM_003285 exon18 c.70423-179G>A 0.719449 0.8145 Uncertain 1_175363204_C->T 1 175363204 175363204 C T snp 86.28 1/1 9 3 0 3 1.0 intronic rs12023965 TNR AU NM_003285 exon18 c.70539+173C>T 0.504393 0.6032 Uncertain 1_175365663_G->A 1 175365663 175365663 G A snp 2496.77 1/1 99 95 0 95 1.0 intronic rs859446 TNR AU NM_003285 exon19 c.73187-16G>A 0.504193 0.6032 0.465477 0.4679 0.6484 Uncertain 1_175375334_C->T 1 175375334 175375334 C T snp 1592.77 1/1 99 45 0 45 1.0 intronic rs859400 TNR AU NM_003285 exon21 c.82859-17C>T 0.41853 0.5188 0.382439 0.3994 0.5237 Uncertain 1_175375469_C->A 1 175375469 175375469 C A snp 7675.77 1/1 99 250 0 250 1.0 exonic rs2239819 TNR AU nonsynonymous SNV NM_003285 exon3 c.G382T p.A128S 0.287141 0.5179 0.223974 0.2933 0.5226 0.34 T 0.0 P -0.952 T 0.01 T 0.007 T Pathogenic 1_175375683_T->C 1 175375683 175375683 T C snp 7865.77 1/1 99 250 0 250 1.0 exonic rs859399 TNR AU synonymous SNV NM_003285 exon3 c.A168G p.T56T 0.726837 0.8194 0.680993 0.6758 0.8393 Uncertain 1_175375802_T->C 1 175375802 175375802 T C snp 7658.77 1/1 99 250 0 250 1.0 exonic rs859398 TNR AU nonsynonymous SNV NM_003285 exon3 c.A49G p.I17V 0.722045 0.8194 0.675381 0.6745 0.8395 1 T 0.0 P -0.970 T 0.0 T 0.0 T Pathogenic 1_175376020_G->- 1 175376020 175376020 G - indel 366.73 1/1 36 22 0 22 1.0 intronic rs60974501 TNR AU NM_003285 exon21 c.83421+107delG 0.72484 0.8175 Uncertain 1_175916267_T->C 1 175916267 175916267 T C snp 2051.77 1/1 99 70 0 70 1.0 intronic rs6674353 RFWD2 AU NM_022457 exon2 c.2042-63T>C 0.920128 0.999 0.926194 Uncertain 1_175916507_T->- 1 175916507 175916507 T - indel 82.73 0/1 52 29 5 24 0.83 intronic rs34272809 RFWD2 AU NM_022457 exon2 c.2087+132delT Uncertain 1_175937540_C->T 1 175937540 175937540 C T snp 3768.77 1/1 99 136 0 136 1.0 ncRNA_exonic rs4534339 SCARNA3 AU 0.9375 0.999 0.932682 0.9733 1 Uncertain 1_175951347_T->A 1 175951347 175951347 T A snp 1167.77 1/1 87 39 0 39 1.0 intronic rs10798430 RFWD2 AU NM_022457 exon3 c.41790-4731T>A 0.937899 0.999 Uncertain 1_175955996_T->C 1 175955996 175955996 T C snp 1132.77 0/1 99 72 30 42 0.58 intronic rs60964243 RFWD2 AU NM_022457 exon3 c.41790-82T>C 0.0926518 0.0119 Uncertain 1_176012807_G->A 1 176012807 176012807 G A snp 533.77 1/1 39 19 0 19 1.0 intronic rs4233165 RFWD2 AU NM_022457 exon8 c.98557-38G>A 0.937899 0.999 0.931329 0.9715 1 Uncertain 1_176103054_AC->- 1 176103054 176103055 AC - indel 534.73 0/1 99 40 26 14 0.35 intronic rs34010407 RFWD2 AU NM_022457 exon13 c.189857-1091_189857-1090delAC 0.377796 0.4137 0.3611 0.3636 Uncertain 1_176118219_G->A 1 176118219 176118219 G A snp 199.77 0/1 99 12 3 9 0.75 intronic rs3748618 RFWD2 AU NM_022457 exon15 c.203922+9G>A 0.27496 0.3542 0.265984 0.3504 0.3366 Uncertain 1_176132292_C->T 1 176132292 176132292 C T snp 180.9 1/1 15 5 0 5 1.0 intronic rs704828 RFWD2 AU NM_022457 exon16 c.217836+168C>T 0.937899 0.999 Uncertain 1_176153566_A->C 1 176153566 176153566 A C snp 101.28 1/1 9 5 0 5 1.0 intronic rs11587254 RFWD2 AU NM_022457 exon19 c.239480-202A>C 0.0219649 0.0119 Uncertain 1_176153658_T->C 1 176153658 176153658 T C snp 206.77 0/1 99 37 27 10 0.27 intronic rs791744 RFWD2 AU NM_022457 exon19 c.239480-110T>C 0.714856 0.9117 Uncertain 1_176845528_C->T 1 176845528 176845528 C T snp 251.77 0/1 99 19 10 9 0.47 intronic rs2076341 ASTN1 AU NM_004319 exon3 c.12253-144C>T 0.828674 0.7986 Uncertain 1_176857347_A->G 1 176857347 176857347 A G snp 298.77 0/1 99 28 16 12 0.43 intronic rs2072935 ASTN1 AU NM_004319 exon6 c.23921+7A>G 0.829073 0.8006 0.847301 0.8270 0.7902 Uncertain 1_176863836_G->C 1 176863836 176863836 G C snp 1376.77 0/1 99 115 57 58 0.5 exonic rs2281180 ASTN1 AU nonsynonymous SNV NM_001286164 exon17 c.C2802G p.H934Q 0.829273 0.8006 0.848301 0.8282 0.7917 0.76 T 0.000 P -1.012 T 0.0 T 0.0 T Pathogenic 1_176863867_T->C 1 176863867 176863867 T C snp 1546.77 0/1 99 133 67 66 0.5 exonic rs2228956 ASTN1 AU nonsynonymous SNV NM_001286164 exon17 c.A2771G p.H924R 0.828874 0.8006 0.847301 0.8268 0.7911 1 T 0.002 P -0.971 T 0.0 T 0.0 T Pathogenic 1_176905200_A->G 1 176905200 176905200 A G snp 504.77 0/1 99 32 15 17 0.53 intronic rs2076071 ASTN1 AU NM_004319 exon9 c.71982-201A>G 0.178315 0.1478 Uncertain 1_176915022_A->G 1 176915022 176915022 A G snp 1214.77 0/1 99 121 67 54 0.45 intronic rs2076070 ASTN1 AU NM_004319 exon11 c.81642-39A>G 0.240016 0.1488 0.253037 0.2095 0.1430 Uncertain 1_176918504_A->G 1 176918504 176918504 A G snp 744.77 0/1 99 76 43 33 0.43 intronic rs2076073 ASTN1 AU NM_004319 exon12 c.85068+17A>G 0.190695 0.1885 0.183838 0.1734 0.1858 Uncertain 1_176934389_T->A 1 176934389 176934389 T A snp 700.77 0/1 99 64 33 31 0.48 intronic rs12565733 ASTN1 AU NM_004319 exon15 c.100954+16T>A 0.121605 0.1984 0.110949 0.1464 0.1796 Uncertain 1_176992553_A->G 1 176992553 176992553 A G snp 2163.77 0/1 99 189 99 90 0.48 exonic rs172917 ASTN1 AU synonymous SNV NM_001286164 exon7 c.T1425C p.C475C 0.514177 0.2054 0.642033 0.6051 0.2881 Uncertain 1_176993918_G->A 1 176993918 176993918 G A snp 1301.77 0/1 99 113 60 53 0.47 intronic rs756510464 ASTN1 AU NM_004319 exon18 c.160449+50G>A 7.173e-05 0.0010 Uncertain 1_176998930_C->T 1 176998930 176998930 C T snp 3985.77 1/1 99 150 1 149 0.99 intronic rs56297461 ASTN1 AU NM_004319 exon19 c.165458+53C>T 0.141374 0.2569 Uncertain 1_176999917_G->A 1 176999917 176999917 G A snp 1788.77 1/1 99 69 0 69 1.0 intronic rs12568439 ASTN1 AU NM_004319 exon20 c.166522-24G>A 0.148962 0.256 0.127710 0.1690 0.2439 Uncertain 1_177001896_C->G 1 177001896 177001896 C G snp 7052.77 1/1 99 250 2 248 0.99 exonic rs2076069 ASTN1 AU synonymous SNV NM_001286164 exon3 c.G561C p.P187P 0.14996 0.2599 0.126557 0.1704 0.2485 Uncertain 1_177199323_C->T 1 177199323 177199323 C T snp 1093.77 0/1 99 88 41 47 0.53 intronic rs3176442 BRINP2 AU NM_021165 exon2 c.269+42C>T 0.397564 0.5298 0.322118 0.4027 0.4887 Uncertain 1_177225400_G->C 1 177225400 177225400 G C snp 168.77 0/1 99 13 7 6 0.46 intronic rs2861919 BRINP2 AU NM_021165 exon3 c.26233+155G>C 0.374601 0.5218 Uncertain 1_177899562_C->T 1 177899562 177899562 C T snp 56.74 1/1 6 2 0 2 1.0 intronic rs626976 SEC16B AU NM_033127 exon2 c.687-117C>T 0.595447 0.7143 Uncertain 1_177901741_A->G 1 177901741 177901741 A G snp 2231.77 0/1 99 156 63 93 0.6 intronic rs684227 SEC16B AU NM_033127 exon3 c.2712+37A>G 0.535743 0.6478 0.481805 0.5866 0.7087 Uncertain 1_177906657_G->A 1 177906657 177906657 G A snp 574.77 0/1 99 46 20 26 0.57 intronic rs6676302 SEC16B AU NM_033127 exon8 c.7656+9G>A 0.241813 0.25 0.212181 0.2956 0.2786 Uncertain 1_177908852_C->T 1 177908852 177908852 C T snp 2342.77 0/1 99 201 103 98 0.49 exonic rs943762 SEC16B AU nonsynonymous SNV NM_033127 exon18 c.G2188A p.G730R 0.161542 0.3294 0.096496 0.2163 0.4418 0.54 T 0.000 P -0.934 T 0.002 T 0.001 T Pathogenic 1_177910883_T->C 1 177910883 177910883 T C snp 197.77 0/1 94 9 3 6 0.67 intronic rs188599816 SEC16B AU NM_033127 exon11 c.12042-151T>C 0.00159744 0.0079 Uncertain 1_177910896_A->G 1 177910896 177910896 A G snp 230.77 0/1 99 14 6 8 0.57 intronic rs10913466 SEC16B AU NM_033127 exon11 c.12042-138A>G 0.117612 0.2044 Uncertain 1_177913980_T->C 1 177913980 177913980 T C snp 414.77 1/1 33 11 0 11 1.0 intronic rs532842 SEC16B AU NM_033127 exon12 c.14809+179T>C 0.959864 0.995 Uncertain 1_177915474_A->C 1 177915474 177915474 A C snp 1336.77 0/1 99 81 25 56 0.69 intronic rs842192 SEC16B AU NM_033127 exon13 c.16562-80A>C 0.791534 0.8224 0.8219 0.8179 0.42 T 0.0 P -1.005 T 0.002 T 0.001 T Uncertain 1_177915498_G->A 1 177915498 177915498 G A snp 551.77 0/1 99 84 56 28 0.33 intronic rs10159204 SEC16B AU NM_033127 exon13 c.16562-56G>A 0.0609026 0.129 0.0416 0.155 0.22 T 0.0 P -1.038 T 0.883 T 0.368 P Uncertain 1_177927188_A->G 1 177927188 177927188 A G snp 741.77 0/1 99 58 29 29 0.5 intronic rs73045023 SEC16B AU NM_033127 exon17 c.28274-78A>G 0.072484 0.1349 Uncertain 1_177929296_G->- 1 177929296 177929296 G - indel 190.73 0/1 99 9 3 6 0.67 intronic rs111481756 SEC16B AU NM_033127 exon19 c.30484-180delG 0.048123 0.1349 Uncertain 1_177929554_C->T 1 177929554 177929554 C T snp 1428.77 0/1 99 163 92 71 0.44 intronic rs10913472 SEC16B AU NM_033127 exon19 c.30546+16C>T 0.466254 0.5704 0.427524 0.5191 0.5880 Uncertain 1_177929628_G->A 1 177929628 177929628 G A snp 1200.77 0/1 99 80 32 48 0.6 intronic rs73045026 SEC16B AU NM_033127 exon19 c.30546+90G>A 0.0702875 0.1349 Uncertain 1_177929836_C->T 1 177929836 177929836 C T snp 120.77 0/1 66 6 2 4 0.67 intronic rs74128501 SEC16B AU NM_033127 exon20 c.30933-89C>T 0.0698882 0.1359 Uncertain 1_177929940_G->A 1 177929940 177929940 G A snp 1078.77 0/1 99 86 46 40 0.47 exonic rs7413442 SEC16B AU synonymous SNV NM_033127 exon7 c.C922T p.L308L 0.277955 0.1944 0.272670 0.2235 0.2129 Uncertain 1_177929987_T->C 1 177929987 177929987 T C snp 3774.77 1/1 99 139 0 139 1.0 exonic rs12040910 SEC16B AU nonsynonymous SNV NM_033127 exon7 c.A875G p.H292R 0.809904 0.8075 0.805216 0.7723 0.8020 0.36 T 0.0 P -1.024 T 0.0 T 0.001 T Pathogenic 1_177930096_T->C 1 177930096 177930096 T C snp 1707.77 0/1 99 126 57 69 0.55 intronic rs867275 SEC16B AU NM_033127 exon20 c.31082+22T>C 0.266174 0.3105 0.230567 0.3066 0.3200 Uncertain 1_177930894_C->T 1 177930894 177930894 C T snp 1083.77 1/1 78 41 0 41 1.0 intronic rs945641 SEC16B AU NM_033127 exon21 c.31877+25C>T 0.799121 0.7718 0.791729 0.7570 0.7638 Uncertain 1_177933443_G->A 1 177933443 177933443 G A snp 1593.77 0/1 99 148 76 72 0.49 intronic rs3813651 SEC16B AU NM_033127 exon22 c.34422+29G>A 0.409145 0.4236 0.442508 0.4442 0.4532 Uncertain 1_177933505_C->T 1 177933505 177933505 C T snp 738.77 0/1 99 67 38 29 0.43 intronic rs3813652 SEC16B AU NM_033127 exon22 c.34422+91C>T 0.207468 0.3284 Uncertain 1_177934044_T->C 1 177934044 177934044 T C snp 249.77 0/1 99 18 10 8 0.44 intronic rs10798587 SEC16B AU NM_033127 exon23 c.35189-137T>C 0.422524 0.4236 Uncertain 1_177934122_G->T 1 177934122 177934122 G T snp 1680.77 0/1 99 105 39 66 0.63 intronic rs80271131 SEC16B AU NM_033127 exon23 c.35189-59G>T 0.0471246 0.1359 Uncertain 1_177934351_G->T 1 177934351 177934351 G T snp 1072.77 0/1 99 121 74 47 0.39 intronic rs72703030 SEC16B AU NM_033127 exon23 c.35310+49G>T 0.203874 0.3284 0.188487 0.2204 0.3263 Uncertain 1_177934467_T->C 1 177934467 177934467 T C snp 41.77 0/1 55 4 2 2 0.5 intronic rs12135725 SEC16B AU NM_033127 exon23 c.35310+165T>C 0.413339 0.4236 Uncertain 1_177935050_T->A 1 177935050 177935050 T A snp 1055.77 0/1 99 78 34 44 0.56 exonic rs1889981 SEC16B AU synonymous SNV NM_033127 exon3 c.A390T p.P130P 0.207468 0.3284 0.193432 0.3172 0.4285 Uncertain 1_177935203_A->G 1 177935203 177935203 A G snp 1226.77 0/1 99 87 35 52 0.6 intronic rs954502 SEC16B AU NM_033127 exon24 c.36148+63A>G 0.412141 0.4236 Uncertain 1_177935275_A->G 1 177935275 177935275 A G snp 831.77 1/1 63 25 0 25 1.0 intronic rs1415085 SEC16B AU NM_033127 exon24 c.36148+135A>G 0.8123 0.7986 Uncertain 1_178063551_A->C 1 178063551 178063551 A C snp 56.74 1/1 6 2 0 2 1.0 UTR5 rs316255 RASAL2 AU 0.9998 1 Uncertain 1_178483231_G->A 1 178483231 178483231 G A snp 3214.74 0/1 99 249 120 129 0.52 intronic rs10913563 TEX35 AU NM_001170723 exon2 c.889+19G>A 0.366613 0.4048 0.361602 0.4029 0.3937 0.000 P -0.905 T Uncertain 1_178484834_A->G 1 178484834 178484834 A G snp 494.77 0/1 99 23 6 17 0.74 intronic rs10798611 TEX35 AU NM_001170723 exon4 c.2670-159A>G 0.564297 0.4702 Uncertain 1_178489978_T->G 1 178489978 178489978 T G snp 718.77 0/1 99 52 23 29 0.56 exonic rs3813636 TEX35 AU nonsynonymous SNV NM_001170722 exon7 c.T536G p.L179R 0.36901 0.4077 0.368599 0.4016 0.3970 0.18 T 0.0 P -0.932 T 0.95 T 0.698 D Pathogenic 1_178492447_T->A 1 178492447 178492447 T A snp 166.77 0/1 99 13 5 8 0.62 exonic rs7527160 TEX35 AU synonymous SNV NM_001170722 exon9 c.T621A p.A207A 0.57508 0.503 0.571616 0.5359 0.4633 Uncertain 1_178499068_T->A 1 178499068 178499068 T A snp 263.77 0/1 99 16 7 9 0.56 intergenic rs6675811 TEX35 AU 0.351637 0.4177 Uncertain 1_178514165_C->T 1 178514165 178514165 C T snp 1157.77 0/1 99 92 44 48 0.52 ncRNA_intronic rs12141152 C1orf220 AU 0.282348 0.4345 0.3650 0.4333 0.000 P Uncertain 1_178514560_-->T 1 178514560 178514560 - T indel 3551.73 0/1 99 242 117 125 0.52 ncRNA_exonic rs34632529 C1orf220 AU 0.382987 0.5357 0.4854 0.5541 Uncertain 1_178514622_C->T 1 178514622 178514622 C T snp 2262.77 0/1 99 205 105 100 0.49 ncRNA_exonic rs12568310 C1orf220 AU 0.309704 0.37 0.290402 0.4218 0.4881 0 D 0.0 P -0.940 T 0.253 T 0.05 T Uncertain 1_178515135_A->T 1 178515135 178515135 A T snp 581.77 0/1 99 27 8 19 0.7 ncRNA_intronic rs4650992 C1orf220 AU 0.383187 0.5357 Uncertain 1_178745799_TT->- 1 178745799 178745800 TT - indel 578.73 0/1 99 51 27 24 0.47 intronic rs201304729 RALGPS2 AU 0.0986422 0.129 Uncertain 1_178745947_T->G 1 178745947 178745947 T G snp 1380.77 0/1 99 150 86 64 0.43 exonic rs6665037 RALGPS2 AU synonymous SNV NM_001286247 exon2 c.T48G p.T16T 0.0964457 0.1012 0.091727 0.0803 0.0871 Uncertain 1_178780650_A->G 1 178780650 178780650 A G snp 367.77 0/1 99 25 10 15 0.6 intronic rs12131426 RALGPS2 AU NM_152663 exon6 c.34640+111A>G 0.604832 0.5437 Uncertain 1_178790583_T->C 1 178790583 178790583 T C snp 77.77 0/1 99 6 3 3 0.5 intronic rs2275099 RALGPS2 AU NM_152663 exon7 c.44847-163T>C 0.400958 0.2202 Uncertain 1_178820159_C->A 1 178820159 178820159 C A snp 372.77 0/1 99 18 7 11 0.61 UTR3 rs1544124 ANGPTL1 AU 0.600839 0.5397 Uncertain 1_178848223_A->G 1 178848223 178848223 A G snp 555.77 0/1 99 52 29 23 0.44 intronic rs3766637 RALGPS2 AU NM_152663 exon10 c.102228+96A>G 0.0964457 0.1012 Uncertain 1_178854162_C->T 1 178854162 178854162 C T snp 552.77 0/1 99 46 22 24 0.52 intronic rs6425503 RALGPS2 AU NM_152663 exon12 c.108311-48C>T 0.604633 0.5387 0.642626 0.5831 0.5292 Uncertain 1_178858711_C->A 1 178858711 178858711 C A snp 246.77 0/1 99 34 21 13 0.38 intronic rs10798635 RALGPS2 AU NM_152663 exon14 c.112877-65C>A 0.407149 0.2282 0.491670 Uncertain 1_178858759_G->A 1 178858759 178858759 G A snp 360.77 0/1 99 47 29 18 0.38 intronic rs3753534 RALGPS2 AU NM_152663 exon14 c.112877-17G>A 0.407149 0.2282 0.494618 0.3975 0.2295 Uncertain 1_178871217_G->A 1 178871217 178871217 G A snp 972.77 0/1 99 85 48 37 0.44 intronic rs2275100 RALGPS2 AU NM_152663 exon18 c.125341-23G>A 0.202676 0.1032 0.217438 0.1326 0.0958 Uncertain 1_179012947_C->G 1 179012947 179012947 C G snp 484.77 0/1 99 28 13 15 0.54 UTR5 rs72707294 FAM20B AU 0.13758 0.3036 0.132862 0.1538 0.3023 Uncertain 1_179023601_G->T 1 179023601 179023601 G T snp 1068.77 0/1 99 78 38 40 0.51 intronic rs2147769 FAM20B AU NM_014864 exon4 c.10681-62G>T 0.144768 0.3006 Uncertain 1_179041011_A->G 1 179041011 179041011 A G snp 1541.77 0/1 99 154 81 73 0.47 intronic rs3820163 FAM20B AU NM_014864 exon8 c.28065-36A>G 0.690695 0.626 0.717207 0.6461 0.6181 Uncertain 1_179041398_A->G 1 179041398 179041398 A G snp 510.77 0/1 99 28 11 17 0.61 UTR3 rs2025584 FAM20B AU 0.691094 0.626 Uncertain 1_179051300_T->C 1 179051300 179051300 T C snp 586.77 0/1 99 54 27 27 0.5 exonic rs2296377 TOR3A AU nonsynonymous SNV NM_022371 exon1 c.T37C p.F13L 0.767173 0.6677 0.818501 0.7553 0.6956 1 T 0.0 P -0.923 T 0.0 T 0.0 T Pathogenic 1_179054692_T->G 1 179054692 179054692 T G snp 1741.77 0/1 99 155 77 78 0.5 intronic rs912758 TOR3A AU NM_022371 exon3 c.3499-70T>G 0.684305 0.6091 0.6436 0.5943 Uncertain 1_179055020_C->T 1 179055020 179055020 C T snp 696.77 0/1 99 74 43 31 0.42 exonic rs2296376 TOR3A AU synonymous SNV NM_022371 exon3 c.C631T p.L211L 0.132388 0.255 0.117407 0.1271 0.2469 Uncertain 1_179067071_C->A 1 179067071 179067071 C A snp 637.77 0/1 99 48 20 28 0.58 intergenic rs10913690 TOR3A AU 0.627995 0.5427 0.6802 0.4959 Uncertain 1_179087934_T->C 1 179087934 179087934 T C snp 1506.77 0/1 99 124 65 59 0.48 intronic rs2171959 ABL2 AU NM_007314 exon6 c.11047+35T>C 0.629193 0.5407 0.651545 0.6247 0.5179 Uncertain 1_179089213_C->T 1 179089213 179089213 C T snp 376.77 0/1 99 26 11 15 0.58 intronic rs1858551 ABL2 AU NM_007314 exon7 c.12472-111C>T 0.629193 0.5407 Uncertain 1_179089475_C->G 1 179089475 179089475 C G snp 672.77 0/1 99 37 15 22 0.59 intronic rs9726961 ABL2 AU NM_007314 exon7 c.12557+66C>G 0.629193 0.5407 Uncertain 1_179089491_A->C 1 179089491 179089491 A C snp 563.77 0/1 99 27 9 18 0.67 intronic rs9728480 ABL2 AU NM_007314 exon7 c.12557+82A>C 0.629193 0.5407 Uncertain 1_179089518_C->G 1 179089518 179089518 C G snp 110.77 0/1 99 11 6 5 0.45 intronic rs9727252 ABL2 AU NM_007314 exon7 c.12557+109C>G 0.617013 0.5407 Uncertain 1_179292442_G->A 1 179292442 179292442 G A snp 793.77 1/1 57 31 0 31 1.0 intronic rs2902277 SOAT1 AU NM_003101 exon3 c.20752-129G>A 0.585064 0.8423 Uncertain 1_179304892_T->C 1 179304892 179304892 T C snp 1065.77 1/1 78 32 0 32 1.0 intronic rs1034269 SOAT1 AU NM_001252511 exon3 c.32858+100T>C 0.586661 0.8423 Uncertain 1_179308803_G->A 1 179308803 179308803 G A snp 629.77 0/1 99 51 28 23 0.45 intronic rs3753524 SOAT1 AU NM_001252511 exon5 c.36746+123G>A 0.255192 0.3631 Uncertain 1_179310262_C->T 1 179310262 179310262 C T snp 2584.77 0/1 99 231 121 110 0.48 exonic rs11576517 SOAT1 AU synonymous SNV NM_003101 exon7 c.C597T p.P199P 0.282348 0.4782 0.185914 0.2415 0.4767 Uncertain 1_179312102_T->C 1 179312102 179312102 T C snp 2513.77 0/1 99 208 98 110 0.53 intronic rs4651024 SOAT1 AU NM_001252511 exon8 c.40144+24T>C 0.456669 0.4871 0.469553 0.4617 0.4809 Uncertain 1_179312235_G->A 1 179312235 179312235 G A snp 545.77 0/1 99 31 14 17 0.55 intronic rs10913728 SOAT1 AU NM_001252511 exon8 c.40144+157G>A 0.426717 0.4216 Uncertain 1_179312250_T->- 1 179312250 179312250 T - indel 322.73 0/1 99 21 9 12 0.57 intronic rs11350945 SOAT1 AU NM_001252511 exon8 c.40144+172delT 0.456669 0.4861 Uncertain 1_179312525_G->A 1 179312525 179312525 G A snp 59.74 1/1 6 3 0 3 1.0 intronic rs12691483 SOAT1 AU NM_001252511 exon9 c.40790-199G>A 0.426518 0.4206 Uncertain 1_179312559_A->G 1 179312559 179312559 A G snp 106.28 1/1 9 6 0 6 1.0 intronic rs13306728 SOAT1 AU NM_001252511 exon9 c.40790-165A>G 0.182708 0.3829 Uncertain 1_179312752_C->T 1 179312752 179312752 C T snp 99.77 0/1 99 26 19 7 0.27 exonic rs10753191 SOAT1 AU synonymous SNV NM_003101 exon10 c.C969T p.V323V 0.26258 0.3542 0.199754 0.2135 0.3927 Uncertain 1_179317896_TGTGTGTGTGTGTGTGTGTGTGTG->- 1 179317896 179317919 TGTGTGTGTGTGTGTGTGTGTGTG - indel 5149.73 ./1 99 20 0 20 1.0 intronic rs71751221 SOAT1 AU NM_001252511 exon12 c.46044-82_46044-59delTGTGTGTGTGTGTGTGTGTGTGTG Uncertain 1_179317896_TGTGTGTGTGTGTGTGTGTGTGTGTG->- 1 179317896 179317921 TGTGTGTGTGTGTGTGTGTGTGTGTG - indel 5149.73 ./1 99 20 0 20 1.0 intronic rs200924427 SOAT1 AU NM_001252511 exon12 c.46044-82_46044-57delTGTGTGTGTGTGTGTGTGTGTGTGTG Uncertain 1_179319541_C->G 1 179319541 179319541 C G snp 2848.77 0/1 99 240 120 120 0.5 exonic rs3753526 SOAT1 AU synonymous SNV NM_003101 exon14 c.C1425G p.L475L 0.167332 0.3552 0.073120 0.1274 0.3871 Uncertain 1_179319580_T->C 1 179319580 179319580 T C snp 6059.77 1/1 99 216 0 216 1.0 intronic rs3753527 SOAT1 AU NM_001252511 exon13 c.47632+14T>C 0.732827 0.87 0.664847 0.6626 0.8880 Uncertain 1_179320578_A->G 1 179320578 179320578 A G snp 2940.77 0/1 99 249 128 121 0.49 exonic rs13306731 SOAT1 AU nonsynonymous SNV NM_003101 exon15 c.A1577G p.Q526R 0.125 0.3016 0.054436 0.1078 0.3361 1 T 0.843 P -0.999 T 0.0 T 0.001 T ID=CM146105;DIS=Reduced enzyme activity;TAG=FP;PUB=24517390 FP Pathogenic 1_179320665_A->G 1 179320665 179320665 A G snp 1721.77 0/1 99 144 78 66 0.46 intronic rs13306732 SOAT1 AU NM_001252511 exon14 c.48663+68A>G 0.369209 0.4097 Uncertain 1_179339262_C->G 1 179339262 179339262 C G snp 834.77 0/1 99 46 18 28 0.61 intronic rs16854009 AXDND1 AU NM_144696 exon4 c.3569+49C>G 0.165935 0.3254 0.083833 0.1450 0.3646 Uncertain 1_179339334_G->A 1 179339334 179339334 G A snp 80.77 0/1 99 7 3 4 0.57 intronic rs6666358 AXDND1 AU NM_144696 exon4 c.3569+121G>A 0.67492 0.5218 Uncertain 1_179347832_T->C 1 179347832 179347832 T C snp 3089.77 1/1 99 127 0 127 1.0 exonic rs10798674 AXDND1 AU synonymous SNV NM_144696 exon5 c.T435C p.V145V 0.511781 0.6974 0.415501 0.4845 0.7243 Uncertain 1_179351606_G->C 1 179351606 179351606 G C snp 258.8 1/1 21 7 0 7 1.0 intronic rs4625243 AXDND1 AU NM_144696 exon7 c.16190-228G>C 0.77476 0.8016 Uncertain 1_179352736_T->C 1 179352736 179352736 T C snp 1220.77 0/1 99 116 59 57 0.49 intronic rs4077551 AXDND1 AU NM_144696 exon8 c.17035+57T>C 0.172524 0.3264 Uncertain 1_179354304_A->G 1 179354304 179354304 A G snp 593.77 1/1 45 18 0 18 1.0 intronic rs7541905 AXDND1 AU NM_144696 exon9 c.18728-68A>G 0.777556 0.8016 Uncertain 1_179364372_G->C 1 179364372 179364372 G C snp 291.77 0/1 99 58 44 14 0.24 intronic rs12405133 AXDND1 AU NM_144696 exon11 c.28693+35G>C 0.15635 0.3264 0.072813 0.1286 0.3525 Uncertain 1_179364391_A->G 1 179364391 179364391 A G snp 825.77 0/1 99 46 14 32 0.7 intronic rs61173288 AXDND1 AU NM_144696 exon11 c.28693+54A>G 0.363419 0.4246 Uncertain 1_179380473_T->- 1 179380473 179380473 T - indel 309.73 0/1 99 39 17 22 0.56 intronic rs397982105 AXDND1 AU NM_144696 exon12 c.44757+72delT 0.593051 0.4792 Uncertain 1_179380519_G->T 1 179380519 179380519 G T snp 222.77 0/1 99 15 7 8 0.53 intronic rs10798676 AXDND1 AU NM_144696 exon12 c.44757+118G>T 0.173522 0.3224 Uncertain 1_179398536_G->A 1 179398536 179398536 G A snp 54.74 1/1 6 2 0 2 1.0 intronic rs6662859 AXDND1 AU NM_144696 exon13 c.63008-116G>A 0.872604 0.9028 Uncertain 1_179398563_C->G 1 179398563 179398563 C G snp 143.03 1/1 12 5 0 5 1.0 intronic rs4652382 AXDND1 AU NM_144696 exon13 c.63008-89C>G 0.775559 0.8016 Uncertain 1_179401503_G->A 1 179401503 179401503 G A snp 1542.77 0/1 99 149 83 66 0.44 intronic rs12097041 AXDND1 AU NM_144696 exon15 c.65833+26G>A 0.173522 0.3224 0.098242 0.1882 0.3964 Uncertain 1_179401565_T->- 1 179401565 179401565 T - indel 2207.73 1/1 32 135 13 122 0.9 intronic rs10706073 AXDND1 AU NM_144696 exon15 c.65833+88delT 0.753794 0.7897 Uncertain 1_179437827_G->A 1 179437827 179437827 G A snp 139.03 1/1 12 4 0 4 1.0 intronic rs7514278 AXDND1 AU NM_144696 exon17 c.102132+51G>A 0.859225 0.9048 0.856779 0.8842 0.9112 Uncertain 1_179452194_C->T 1 179452194 179452194 C T snp 219.77 0/1 99 19 11 8 0.42 intronic rs6668035 AXDND1 AU NM_144696 exon18 c.116618-68C>T 0.543331 0.75 Uncertain 1_179452275_G->A 1 179452275 179452275 G A snp 956.77 0/1 99 91 51 40 0.44 exonic rs10494520 AXDND1 AU synonymous SNV NM_144696 exon18 c.G2010A p.A670A 0.195288 0.3284 0.123943 0.1537 0.3483 Uncertain 1_179452520_C->A 1 179452520 179452520 C A snp 321.77 0/1 99 29 16 13 0.45 intronic rs76901676 AXDND1 AU NM_144696 exon18 c.116712+164C>A 0.0942492 0.1032 Uncertain 1_179452522_G->C 1 179452522 179452522 G C snp 455.77 0/1 99 26 10 16 0.62 intronic rs12407885 AXDND1 AU NM_144696 exon18 c.116712+166G>C 0.542732 0.75 Uncertain 1_179461975_T->C 1 179461975 179461975 T C snp 697.77 0/1 99 86 47 39 0.45 intronic rs59377201 AXDND1 AU NM_144696 exon20 c.126345-14T>C 0.0938498 0.1032 0.034215 0.0907 0.0965 Uncertain 1_179462149_A->G 1 179462149 179462149 A G snp 865.77 1/1 63 27 0 27 1.0 intronic rs7549194 AXDND1 AU NM_144696 exon20 c.126442+63A>G 0.997804 1 Uncertain 1_179494613_TACA->- 1 179494613 179494616 TACA - indel 470.73 0/1 99 25 5 20 0.8 intronic rs35486954 AXDND1 AU NM_144696 exon22 c.158938+31_158938+34delTACA 0.2602 0.1108 Uncertain 1_179494665_C->T 1 179494665 179494665 C T snp 208.84 1/1 18 9 0 9 1.0 intronic rs4620484 AXDND1 AU NM_144696 exon22 c.158938+83C>T 0.883387 0.9643 Uncertain 1_179497359_T->C 1 179497359 179497359 T C snp 1488.77 1/1 99 48 0 48 1.0 intronic rs6698201 AXDND1 AU NM_144696 exon23 c.161817-102T>C 0.88139 0.9643 Uncertain 1_179520151_C->T 1 179520151 179520151 C T snp 261.8 1/1 21 8 0 8 1.0 UTR3 rs1410590 NPHS2 AR 0.905152 0.9692 Uncertain 1_179520422_T->C 1 179520422 179520422 T C snp 1181.77 0/1 99 106 58 48 0.45 exonic rs3818587 NPHS2 AR synonymous SNV NM_014625 exon8 c.A1038G p.L346L 0.0710863 0.0942 0.089574 0.0737 0.0917 Uncertain 1_179533915_G->A 1 179533915 179533915 G A snp 541.77 0/1 99 41 18 23 0.56 exonic rs3738423 NPHS2 AR synonymous SNV NM_014625 exon2 c.C288T p.S96S 0.0710863 0.0952 0.089266 0.0745 0.0928 Uncertain 1_179544898_T->C 1 179544898 179544898 T C snp 2609.77 1/1 99 88 0 88 1.0 exonic rs1079292 NPHS2 AR synonymous SNV NM_014625 exon1 c.A102G p.G34G 0.930911 0.9812 0.966324 0.9616 0.9812 Uncertain 1_179561645_A->C 1 179561645 179561645 A C snp 198.84 1/1 18 7 0 7 1.0 UTR5 rs4652418 TDRD5 AU 0.779153 0.9038 Uncertain 1_179599327_T->C 1 179599327 179599327 T C snp 83.28 1/1 9 3 0 3 1.0 intronic rs35061972 TDRD5 AU NM_173533 exon7 c.38151-574T>C 0.257588 0.3562 Uncertain 1_179604864_C->T 1 179604864 179604864 C T snp 3756.77 1/1 99 137 0 137 1.0 exonic rs4628468 TDRD5 AU synonymous SNV NM_001199092 exon6 c.C27T p.D9D 0.796925 0.9048 0.746425 0.7652 0.8932 Uncertain 1_179609589_G->T 1 179609589 179609589 G T snp 4557.77 1/1 99 161 0 161 1.0 intronic rs16854429 TDRD5 AU NM_173533 exon11 c.47830+9G>T 0.220248 0.3552 0.168538 0.2134 0.3530 Uncertain 1_179816017_C->G 1 179816017 179816017 C G snp 679.77 0/1 99 51 21 30 0.59 intronic rs79921581 TOR1AIP2 AU NM_001199260 exon1 c.758+54C>G 0.0760783 0.125 Uncertain 1_179852074_T->C 1 179852074 179852074 T C snp 2726.77 0/1 99 193 88 105 0.54 exonic rs1281378 TOR1AIP1 AR nonsynonymous SNV NM_001267578 exon1 c.T437C p.M146T 0.608826 0.7778 0.569205 0.6503 0.7640 1 T 0.0 P -1.002 T 0.0 T 0.0 T Pathogenic 1_179852159_G->C 1 179852159 179852159 G C snp 999.77 0/1 99 74 33 41 0.55 intronic rs78856676 TOR1AIP1 AR NM_015602 exon1 c.475+47G>C 0.141573 0.125 0.1771 0.2339 Uncertain 1_179852160_C->T 1 179852160 179852160 C T snp 913.77 0/1 99 72 33 39 0.54 intronic rs76860548 TOR1AIP1 AR NM_015602 exon1 c.475+48C>T 0.141773 0.125 0.1749 0.2325 Uncertain 1_179852552_T->G 1 179852552 179852552 T G snp 658.77 0/1 99 46 22 24 0.52 intronic rs605807 TOR1AIP1 AR NM_015602 exon1 c.475+440T>G 0.608626 0.7778 Uncertain 1_179854026_A->T 1 179854026 179854026 A T snp 113.77 0/1 99 9 5 4 0.44 intronic rs10913901 TOR1AIP1 AR NM_015602 exon2 c.2267+122A>T 0.278954 0.1369 Uncertain 1_179858333_C->T 1 179858333 179858333 C T snp 182.77 0/1 99 18 11 7 0.39 intronic rs1300068 TOR1AIP1 AR NM_001267578 exon3 c.6807-111C>T 0.605232 0.7778 Uncertain 1_179858444_G->A 1 179858444 179858444 G A snp 815.77 0/1 99 91 54 37 0.41 splicing rs2245425 TOR1AIP1 AR NM_001267578 exon3 c.6807G>A 0.635383 0.7778 0.583064 0.6466 0.7603 1.000 P Pathogenic 1_179876988_C->G 1 179876988 179876988 C G snp 637.77 0/1 99 59 31 28 0.47 exonic rs609521 TOR1AIP1 AR nonsynonymous SNV NM_001267578 exon7 c.C830G p.P277R 0.584065 0.7778 0.540212 0.6329 0.7596 0.0 P -0.981 T 0.81 T 0.327 P Pathogenic 1_179887125_G->A 1 179887125 179887125 G A snp 7574.77 1/1 99 250 0 250 1.0 exonic rs627897 TOR1AIP1 AR synonymous SNV NM_001267578 exon10 c.G1506A p.A502A 0.91853 0.9147 0.927495 0.9485 0.9008 1.0 P -1.018 T Likely benign 1_179956356_AT->- 1 179956356 179956357 AT - indel 1553.73 0/1 99 76 40 36 0.47 intronic rs140510451 CEP350 AU NM_014810 exon3 c.1058-18_1058-17delAT 0.047524 0.0625 0.032119 0.0505 0.0989 Uncertain 1_179956359_T->C 1 179956359 179956359 T C snp 746.77 0/1 99 76 40 36 0.47 intronic rs58749862 CEP350 AU NM_014810 exon3 c.1058-15T>C 0.047524 0.0625 0.0508 0.0998 Uncertain 1_179956497_G->T 1 179956497 179956497 G T snp 136.77 0/1 99 17 11 6 0.35 intronic rs16855052 CEP350 AU NM_014810 exon3 c.1105+76G>T 0.109625 0.0764 0.109649 Uncertain 1_179961369_A->- 1 179961369 179961369 A - indel 973.73 0/1 99 76 23 53 0.7 intronic rs148001345 CEP350 AU NM_014810 exon5 c.6040+13delA 0.0515176 0.0655 0.071705 0.1005 0.1479 Uncertain 1_179983665_G->A 1 179983665 179983665 G A snp 1218.77 0/1 99 99 49 50 0.51 intronic rs2501607 CEP350 AU NM_014810 exon10 c.28324+25G>A 0.564696 0.7004 0.541589 0.6586 0.7142 Uncertain 1_179985156_C->T 1 179985156 179985156 C T snp 1232.77 0/1 99 104 56 48 0.46 intronic rs16855107 CEP350 AU NM_014810 exon11 c.29789+51C>T 0.111422 0.0764 0.131463 Uncertain 1_179989742_G->C 1 179989742 179989742 G C snp 1685.77 0/1 99 179 107 72 0.4 exonic rs2477120 CEP350 AU nonsynonymous SNV NM_014810 exon12 c.G2833C p.E945Q 0.564297 0.7044 0.538136 0.6407 0.7065 0.339 P -1.068 T 0.963 D 0.543 D Pathogenic 1_179992076_A->G 1 179992076 179992076 A G snp 690.77 1/1 51 19 0 19 1.0 intronic rs2477117 CEP350 AU NM_014810 exon13 c.36667+93A>G 0.801518 0.7887 Uncertain 1_179993793_T->C 1 179993793 179993793 T C snp 438.77 1/1 33 13 0 13 1.0 intronic rs4622030 CEP350 AU NM_014810 exon14 c.38401+76T>C 0.849241 0.8393 Uncertain 1_180003277_C->A 1 180003277 180003277 C A snp 527.77 0/1 99 38 19 19 0.5 intronic rs74487535 CEP350 AU NM_014810 exon16 c.47901+60C>A 0.109625 0.0764 Uncertain 1_180010702_T->C 1 180010702 180010702 T C snp 178.9 1/1 15 6 0 6 1.0 intronic rs4652461 CEP350 AU NM_014810 exon19 c.55480-94T>C 0.80012 0.7867 Uncertain 1_180010874_A->G 1 180010874 180010874 A G snp 1220.77 0/1 99 141 84 57 0.4 exonic rs141396106 CEP350 AU synonymous SNV NM_014810 exon19 c.A4299G p.K1433K 0.00339457 0.0159 0.0012 0.0135 1 D -0.978 T Likely benign 1_180022343_T->G 1 180022343 180022343 T G snp 1233.77 0/1 99 112 61 51 0.46 intronic rs9425854 CEP350 AU NM_014810 exon23 c.66985+42T>G 0.566094 0.7073 0.539302 0.6492 0.7233 Uncertain 1_180022760_A->T 1 180022760 180022760 A T snp 54.74 1/1 6 2 0 2 1.0 intronic rs2040083 CEP350 AU NM_014810 exon24 c.67568-124A>T 1 1 Uncertain 1_180034222_A->G 1 180034222 180034222 A G snp 638.77 0/1 99 72 44 28 0.39 intronic rs41267622 CEP350 AU NM_014810 exon27 c.78933-27A>G 0.0477236 0.0625 0.028756 0.0407 0.0797 Uncertain 1_180047817_A->C 1 180047817 180047817 A C snp 221.77 0/1 99 21 12 9 0.43 intronic rs74895300 CEP350 AU NM_014810 exon29 c.92493+8A>C 0.0547125 0.0625 0.036324 0.0525 0.0968 Uncertain 1_180059737_ACATACCT->- 1 180059737 180059744 ACATACCT - indel 1264.73 0/1 99 21 8 13 0.62 intronic rs67852047 CEP350 AU NM_014810 exon33 c.104532-111_104532-104delACATACCT 0.588458 0.7083 Uncertain 1_180059811_A->C 1 180059811 180059811 A C snp 1325.77 0/1 99 99 42 57 0.58 intronic rs10798729 CEP350 AU NM_014810 exon33 c.104532-37A>C 0.566294 0.7083 0.562903 0.6109 0.7129 Uncertain 1_180067914_G->A 1 180067914 180067914 G A snp 163.77 0/1 99 11 4 7 0.64 intronic rs12121834 CEP350 AU NM_014810 exon37 c.112681-83G>A 0.134185 0.0764 Uncertain 1_180067988_G->A 1 180067988 180067988 G A snp 471.77 0/1 99 42 20 22 0.52 intronic rs12121845 CEP350 AU NM_014810 exon37 c.112681-9G>A 0.127596 0.0764 0.144318 0.1316 0.0728 Uncertain 1_180080115_T->G 1 180080115 180080115 T G snp 405.77 0/1 99 35 17 18 0.51 intronic rs3767202 CEP350 AU NM_014810 exon38 c.124815-16T>G 0.551518 0.7083 0.523066 0.6370 0.7090 Uncertain 1_180080313_C->T 1 180080313 180080313 C T snp 1181.77 0/1 99 111 60 51 0.46 UTR3 rs16855289 CEP350 AU 0.048123 0.0615 0.028833 0.0312 0.0653 Uncertain 1_180144291_-->A 1 180144291 180144291 - A indel 204.73 0/1 38 16 4 12 0.75 intronic rs397982130 QSOX1 AU NM_002826 exon3 c.20413-164insA 0.513978 0.4365 Uncertain 1_180145088_A->G 1 180145088 180145088 A G snp 3930.77 1/1 99 149 1 148 0.99 exonic rs2298206 QSOX1 AU synonymous SNV NM_001004128 exon4 c.A435G p.T145T 0.885583 0.8472 0.917270 0.9278 0.8133 Uncertain 1_180155376_C->G 1 180155376 180155376 C G snp 391.77 1/1 30 11 0 11 1.0 intronic rs2298207 QSOX1 AU NM_002826 exon8 c.31275+59C>G 0.671326 0.5139 Uncertain 1_180155383_G->- 1 180155383 180155383 G - indel 301.75 1/1 24 8 0 8 1.0 intronic rs3216058 QSOX1 AU NM_002826 exon8 c.31275+66delG 0.818091 0.5873 Uncertain 1_180159798_C->- 1 180159798 180159798 C - indel 247.77 1/1 21 7 0 7 1.0 intronic rs3215795 QSOX1 AU NM_002826 exon10 c.35673+83delC 0.692492 0.5139 Uncertain 1_180167414_C->G 1 180167414 180167414 C G snp 2059.77 0/1 99 167 84 83 0.5 ncRNA_exonic rs3738112 FLJ23867 AU 0.180711 0.4534 0.1290 0.4078 Uncertain 1_180167644_T->C 1 180167644 180167644 T C snp 520.77 0/1 99 49 25 24 0.49 ncRNA_exonic rs7544147 FLJ23867 AU 0.183307 0.4643 0.1269 0.4304 Uncertain 1_180180669_A->G 1 180180669 180180669 A G snp 999.77 1/1 72 38 0 38 1.0 intergenic rs164980 FLJ23867 AU 0.779553 0.8046 Uncertain 1_180240752_C->T 1 180240752 180240752 C T snp 251.77 0/1 99 21 11 10 0.48 ncRNA_exonic rs3845397 LHX4-AS1 AU 0.40635 0.5615 Uncertain 1_180243249_T->C 1 180243249 180243249 T C snp 615.77 0/1 99 52 28 24 0.46 ncRNA_splicing rs79358478 LHX4-AS1 AU 0.00658946 0.0327 Uncertain 1_180243524_A->G 1 180243524 180243524 A G snp 2716.77 0/1 99 240 125 115 0.48 exonic rs7536561 LHX4 AD nonsynonymous SNV NM_033343 exon6 c.A983G p.N328S 0.426318 0.5942 0.410657 0.4850 0.5837 1 T 1.000 P -0.956 T 0.0 T 0.0 T Pathogenic 1_180257692_A->C 1 180257692 180257692 A C snp 568.77 1/1 42 21 0 21 1.0 intronic rs2254465 ACBD6 AU NM_032360 exon1 c.155+40A>C 0.951877 0.9871 0.947716 0.9456 0.9846 Uncertain 1_180283659_T->C 1 180283659 180283659 T C snp 230.84 1/1 18 9 0 9 1.0 intronic rs2764433 ACBD6 AU NM_032360 exon2 c.26329-167T>C 0.957468 0.9861 Uncertain 1_180757117_-->T 1 180757117 180757117 - T indel 718.73 1/1 51 17 0 17 1.0 intronic rs34984251 XPR1 AD NM_004736 exon3 c.155653+127insT 0.999601 1 Uncertain 1_180772414_G->A 1 180772414 180772414 G A snp 259.8 1/1 21 8 0 8 1.0 intronic rs3002117 XPR1 AD NM_004736 exon4 c.171186-109G>A 0.324481 0.5516 Uncertain 1_180849494_T->C 1 180849494 180849494 T C snp 679.77 1/1 51 18 0 18 1.0 intronic rs10914123 XPR1 AD NM_004736 exon14 c.248096+61T>C 0.624401 0.8393 Uncertain 1_180885430_T->C 1 180885430 180885430 T C snp 6904.77 1/1 99 236 0 236 1.0 exonic rs10732273 KIAA1614 AU nonsynonymous SNV NM_020950 exon2 c.T191C p.L64P 0.99401 1 0.996008 0.9984 1 0.12 T 0.0 P -0.936 T 0.0 T 0.0 T Pathogenic 1_180886810_C->G 1 180886810 180886810 C G snp 122.77 0/1 99 17 10 7 0.41 intronic rs3761905 KIAA1614 AU NM_020950 exon3 c.4607-176C>G 0.417133 0.5357 Uncertain 1_180897521_C->T 1 180897521 180897521 C T snp 5500.77 1/1 99 220 0 220 1.0 intronic rs7544551 KIAA1614 AU NM_020950 exon4 c.15186-44C>T 0.92472 1 0.926614 0.9768 1 Uncertain 1_180897569_C->T 1 180897569 180897569 C T snp 2249.77 0/1 99 199 100 99 0.5 exonic rs3747958 KIAA1614 AU synonymous SNV NM_020950 exon4 c.C1065T p.T355T 0.389976 0.5516 0.367224 0.4171 0.5652 Uncertain 1_180904697_G->A 1 180904697 180904697 G A snp 689.77 0/1 99 69 38 31 0.45 exonic rs146608925 KIAA1614 AU nonsynonymous SNV NM_020950 exon5 c.G1652A p.G551E 0.0119808 0.0179 0.0180 0.0374 0.62 T 0.992 N -0.988 T 0.093 T 0.018 T Pathogenic 1_180904709_C->A 1 180904709 180904709 C A snp 1060.77 0/1 99 71 31 40 0.56 exonic KIAA1614 AU nonsynonymous SNV NM_020950 exon5 c.C1664A p.P555H 0.07 T 1.000 N -0.891 T 0.999 D 0.948 D Pathogenic 1_180905294_C->T 1 180905294 180905294 C T snp 3334.77 0/1 99 249 120 129 0.52 exonic rs79791475 KIAA1614 AU nonsynonymous SNV NM_020950 exon5 c.C2249T p.T750I 0.0175719 0.0437 0.000401 0.0128 0.0541 0.05 T 1.000 N -1.072 T 0.815 T 0.295 P Pathogenic 1_180913597_A->G 1 180913597 180913597 A G snp 5714.77 1/1 99 205 0 205 1.0 exonic rs2331995 KIAA1614 AU nonsynonymous SNV NM_020950 exon8 c.A3232G p.N1078D 0.996406 1 0.996248 0.9988 1 1 T 1.0 N -0.988 T 0.0 T 0.0 T Pathogenic 1_180933498_C->T 1 180933498 180933498 C T snp 444.77 0/1 99 24 9 15 0.63 intergenic rs4652543 KIAA1614 AU 0.520567 0.4901 Uncertain 1_180953853_A->G 1 180953853 180953853 A G snp 2078.77 0/1 99 175 84 91 0.52 exonic rs3747957 STX6 AU synonymous SNV NM_001286210 exon5 c.T348C p.N116N 0.524361 0.631 0.552591 0.5745 0.6183 Uncertain 1_180962282_A->G 1 180962282 180962282 A G snp 233.77 0/1 55 10 2 8 0.8 intronic rs1411478 STX6 AU NM_005819 exon5 c.16793-216A>G 0.526358 0.631 Uncertain 1_180974324_T->C 1 180974324 180974324 T C snp 46.77 0/1 36 4 2 2 0.5 intronic STX6 AU NM_005819 exon7 c.28724-105T>C Uncertain 1_180991665_C->G 1 180991665 180991665 C G snp 1246.77 0/1 99 95 42 53 0.56 intronic rs12565758 STX6 AU NM_005819 exon8 c.46069-109C>G 0.267173 0.2004 Uncertain 1_181057874_T->G 1 181057874 181057874 T G snp 227.84 1/1 18 7 0 7 1.0 UTR5 rs6425663 IER5 AU Uncertain 1_181058313_G->A 1 181058313 181058313 G A snp 259.8 1/1 21 10 0 10 1.0 exonic rs3747955 IER5 AU nonsynonymous SNV NM_016545 exon1 c.G275A p.R92H 0.443291 0.6002 0.287162 0.5414 0.6774 0.55 T 0.0 P -0.975 T 0.014 T 0.011 T Pathogenic 1_181058618_C->G 1 181058618 181058618 C G snp 657.77 1/1 48 21 0 21 1.0 exonic rs1416829 IER5 AU nonsynonymous SNV NM_016545 exon1 c.C580G p.R194G 0.44369 0.6012 0.5280 0.6053 0.22 T 0.0 P -0.964 T 0.029 T 0.013 T Pathogenic 1_181058643_A->G 1 181058643 181058643 A G snp 595.77 1/1 45 19 0 19 1.0 exonic rs1361365 IER5 AU nonsynonymous SNV NM_016545 exon1 c.A605G p.Q202R 0.966054 1 0.9940 1 1 T 0.0 P -0.998 T 0.0 T 0.0 T Pathogenic 1_181549547_T->G 1 181549547 181549547 T G snp 48.74 1/1 6 2 0 2 1.0 intronic rs10494540 CACNA1E AU NM_000721 exon6 c.96850-183T>G 0.454473 0.6419 Uncertain 1_181684605_A->G 1 181684605 181684605 A G snp 1599.77 1/1 99 60 0 60 1.0 intronic rs12407563 CACNA1E AU NM_000721 exon9 c.231647+78A>G 0.836262 0.8056 Uncertain 1_181686216_T->C 1 181686216 181686216 T C snp 1933.77 1/1 99 70 0 70 1.0 intronic rs7540850 CACNA1E AU NM_000721 exon11 c.233348-12T>C 0.555112 0.755 0.592027 0.6736 0.7630 Uncertain 1_181706552_G->A 1 181706552 181706552 G A snp 139.03 1/1 12 5 0 5 1.0 intronic rs2280866 CACNA1E AU NM_000721 exon23 c.253780-108G>A 0.275359 0.2212 Uncertain 1_181719679_C->T 1 181719679 181719679 C T snp 3316.77 1/1 99 119 0 119 1.0 intronic rs704332 CACNA1E AU NM_000721 exon26 c.266743+56C>T 0.548522 0.7192 0.543364 Uncertain 1_181726413_G->A 1 181726413 181726413 G A snp 185.9 1/1 15 7 0 7 1.0 intronic rs704330 CACNA1E AU NM_000721 exon30 c.273382+151G>A 0.829872 0.7937 Uncertain 1_181727273_G->A 1 181727273 181727273 G A snp 1340.77 1/1 96 44 0 44 1.0 intronic rs704329 CACNA1E AU NM_000721 exon31 c.274367+26G>A 0.330272 0.379 0.361722 0.4092 0.4052 Uncertain 1_181750469_G->T 1 181750469 181750469 G T snp 94.28 1/1 9 3 0 3 1.0 intronic rs704328 CACNA1E AU NM_000721 exon39 c.297682-93G>T 0.288339 0.3829 Uncertain 1_181752769_-->T 1 181752769 181752769 - T indel 267.37 0/1 8 23 3 20 0.87 intronic rs144664284 CACNA1E AU NM_000721 exon40 c.299934-45insT 0.340256 0.4266 0.3636 0.3983 Uncertain 1_181752924_AGCTT->- 1 181752924 181752928 AGCTT - indel 4093.73 1/1 99 63 0 63 1.0 splicing rs36163765 CACNA1E AU NM_000721 exon40 c.300040+4_300040+8delAGCTT 0.8123 0.8274 0.780376 0.7742 0.8347 Pathogenic 1_181753030_T->C 1 181753030 181753030 T C snp 174.9 1/1 15 5 0 5 1.0 intronic rs546191 CACNA1E AU NM_000721 exon40 c.300040+110T>C 0.701677 0.8264 Uncertain 1_181759657_G->A 1 181759657 181759657 G A snp 4115.77 1/1 99 153 1 152 0.99 exonic rs704326 CACNA1E AU nonsynonymous SNV NM_000721 exon44 c.G5863A p.A1955T 0.276358 0.3879 0.359744 0.3859 0.3973 0.56 T 0.0 P -0.995 T 0.003 T 0.001 T Pathogenic 1_182026813_G->C 1 182026813 182026813 G C snp 2927.77 0/1 99 250 134 116 0.46 exonic rs12568050 ZNF648 AU nonsynonymous SNV NM_001009992 exon2 c.C333G p.N111K 0.176917 0.2837 0.123558 0.1683 0.2663 0.84 T 0.0 P -0.937 T 0.001 T 0.002 T Pathogenic 1_182027022_C->T 1 182027022 182027022 C T snp 2419.77 0/1 99 193 96 97 0.5 exonic rs12564283 ZNF648 AU nonsynonymous SNV NM_001009992 exon2 c.G124A p.E42K 0.175719 0.2827 0.122097 0.1681 0.2656 0.48 T 0.0 P -0.899 T 0.002 T 0.001 T Pathogenic 1_182354850_A->G 1 182354850 182354850 A G snp 411.77 1/1 33 11 0 11 1.0 intronic rs2296520 GLUL AR NM_001033056 exon3 c.1355-44A>G 0.675719 0.8323 0.590266 0.5747 0.8441 Uncertain 1_182355046_A->G 1 182355046 182355046 A G snp 1284.77 1/1 90 53 0 53 1.0 intronic rs2296519 GLUL AR NM_001033056 exon3 c.1483+24A>G 0.675719 0.8323 0.590916 0.5743 0.8437 Uncertain 1_182356399_A->G 1 182356399 182356399 A G snp 3744.77 1/1 99 143 0 143 1.0 exonic rs1058111 GLUL AR synonymous SNV NM_002065 exon4 c.T195C p.S65S 0.675719 0.8323 0.590497 0.5748 0.8435 Uncertain 1_182369078_G->A 1 182369078 182369078 G A snp 2510.77 1/1 99 88 0 88 1.0 exonic rs6698722 TEDDM1 AU synonymous SNV NM_172000 exon1 c.C543T p.P181P 0.853634 0.8373 0.838152 0.8151 0.8507 Uncertain 1_182369233_A->G 1 182369233 182369233 A G snp 4832.77 1/1 99 186 0 186 1.0 exonic rs6674281 TEDDM1 AU nonsynonymous SNV NM_172000 exon1 c.T388C p.Y130H 0.678115 0.8294 0.594034 0.5751 0.8415 1 T 0.0 P -0.958 T 0.0 T 0.0 T Pathogenic 1_182369738_G->A 1 182369738 182369738 G A snp 135.03 1/1 12 4 0 4 1.0 UTR5 rs7551829 TEDDM1 AU 0.852636 0.8373 Uncertain 1_182427355_G->A 1 182427355 182427355 G A snp 1560.77 0/1 99 101 40 61 0.6 intronic rs2765278 RGSL1 AU NM_001137669 exon3 c.8153-98G>A 0.0960463 0.2411 Uncertain 1_182427659_C->T 1 182427659 182427659 C T snp 214.77 0/1 99 12 5 7 0.58 intronic rs1822271 RGSL1 AU NM_001137669 exon3 c.8228+131C>T 0.304513 0.3829 Uncertain 1_182429296_TG->- 1 182429296 182429297 TG - indel 421.73 0/1 99 48 20 28 0.58 intronic rs10572829 RGSL1 AU NM_001137669 exon4 c.9968+28_9968+29delTG 0.5579 0.6579 Uncertain 1_182429728_T->C 1 182429728 182429728 T C snp 311.77 0/1 99 43 28 15 0.35 intronic rs266508 RGSL1 AU NM_001137669 exon4 c.9968+460T>C 0.794728 0.9415 0.7739 0.9167 Uncertain 1_182429995_C->A 1 182429995 182429995 C A snp 54.74 1/1 6 2 0 2 1.0 intronic rs10911080 RGSL1 AU NM_001137669 exon4 c.9968+727C>A 0.156749 0.0764 Uncertain 1_182440754_T->C 1 182440754 182440754 T C snp 43.77 0/1 70 4 2 2 0.5 intronic rs606661 RGSL1 AU NM_001137669 exon5 c.22230-776T>C 0.248802 0.3829 Uncertain 1_182441446_G->A 1 182441446 182441446 G A snp 178.77 0/1 99 18 10 8 0.44 intronic rs569654 RGSL1 AU NM_001137669 exon5 c.22230-84G>A 0.123003 0.246 Uncertain 1_182443014_G->C 1 182443014 182443014 G C snp 1365.77 0/1 99 149 90 59 0.4 exonic rs647224 RGSL1 AU nonsynonymous SNV NM_001137669 exon6 c.G768C p.W256C 0.123203 0.246 0.069645 0.0712 0.2594 Pathogenic 1_182443462_T->C 1 182443462 182443462 T C snp 6439.77 1/1 99 233 0 233 1.0 exonic rs649437 RGSL1 AU synonymous SNV NM_001137669 exon6 c.T1216C p.L406L 0.473842 0.4593 0.389838 0.4097 0.4938 Uncertain 1_182491107_A->C 1 182491107 182491107 A C snp 319.77 0/1 48 15 4 11 0.73 intronic rs607269 RGSL1 AU NM_001137669 exon10 c.71838-31A>C 0.785942 0.6131 0.879711 0.8315 0.6016 Uncertain 1_182491111_T->C 1 182491111 182491111 T C snp 322.77 0/1 49 16 4 12 0.75 intronic rs12142736 RGSL1 AU NM_001137669 exon10 c.71838-27T>C 0.128994 0.0774 0.156004 0.1767 0.0889 Uncertain 1_182502033_G->T 1 182502033 182502033 G T snp 1745.77 0/1 99 180 101 79 0.44 intronic rs266535 RGSL1 AU NM_001137669 exon14 c.82626+107G>T 0.699681 0.6131 Uncertain 1_182509269_G->A 1 182509269 182509269 G A snp 841.77 0/1 99 66 33 33 0.5 intronic rs266531 RGSL1 AU NM_001137669 exon15 c.90081-112G>A 0.769569 0.5198 Uncertain 1_182517642_C->A 1 182517642 182517642 C A snp 2517.77 0/1 99 184 81 103 0.56 intronic rs10911094 RGSL1 AU NM_001137669 exon16 c.98290+52C>A 0.21266 0.0784 0.218134 Uncertain 1_182522552_C->T 1 182522552 182522552 C T snp 1560.77 0/1 99 160 87 73 0.46 intronic rs266544 RGSL1 AU NM_001137669 exon19 c.103289-37C>T 0.224042 0.0813 0.280771 0.2685 0.0802 Uncertain 1_182523591_A->C 1 182523591 182523591 A C snp 117.77 0/1 99 7 3 4 0.57 intronic rs266547 RGSL1 AU NM_001137669 exon20 c.104461-170A>C 0.389577 0.2063 Uncertain 1_182544815_T->C 1 182544815 182544815 T C snp 426.77 0/1 99 28 11 17 0.61 intronic rs11807829 RNASEL AD NM_021133 exon1 c.187+102T>C 0.277556 0.2054 Uncertain 1_182549019_A->G 1 182549019 182549019 A G snp 3043.77 1/1 99 106 0 106 1.0 intronic rs533259 RNASEL AD NM_021133 exon3 c.5833-1340A>G 0.874002 0.9544 Uncertain 1_182550200_A->G 1 182550200 182550200 A G snp 364.77 1/1 30 11 0 11 1.0 intronic rs501286 RNASEL AD NM_021133 exon3 c.5833-159A>G 0.997804 1 Uncertain 1_182551337_A->C 1 182551337 182551337 A C snp 1688.77 0/1 99 158 84 74 0.47 exonic rs627928 RNASEL AD nonsynonymous SNV NM_021133 exon4 c.T1623G p.D541E 0.479832 0.7093 0.472167 0.5380 0.7216 1 T 0.0 P -0.958 T 0.0 T 0.0 T ID=CM034674;DIS=Prostate cancer, association with;TAG=DP;PUB=12915880 DP Pathogenic 1_182569626_T->C 1 182569626 182569626 T C snp 4418.77 1/1 99 158 0 158 1.0 exonic rs1144566 RGS16 AU nonsynonymous SNV NM_002928 exon5 c.A410G p.H137R 0.986022 1 0.975012 0.9824 1 1 T 0.001 P -0.948 T 0.0 T 0.0 T Pathogenic 1_182571003_C->T 1 182571003 182571003 C T snp 763.77 1/1 57 27 0 27 1.0 intronic rs610367 RGS16 AU NM_002928 exon2 c.1674-97C>T 0.576078 0.7054 0.6308 0.7297 Uncertain 1_182571277_C->T 1 182571277 182571277 C T snp 864.77 0/1 99 91 50 41 0.45 intronic rs569790 RGS16 AU NM_002928 exon2 c.1841+10C>T 0.3127 0.2381 0.321775 0.3728 0.2367 Uncertain 1_182573227_T->C 1 182573227 182573227 T C snp 2591.77 1/1 99 91 0 91 1.0 intronic rs509476 RGS16 AU NM_002928 exon5 c.3924-123T>C 0.992013 1 Uncertain 1_182772897_A->G 1 182772897 182772897 A G snp 2801.77 0/1 99 249 125 124 0.5 exonic rs193141545 NPL AU nonsynonymous SNV NM_030769 exon4 c.A133G p.N45D 0.00319489 0.0159 0.0009 0.0124 0.01 T 1 D 0.531 D 0.739 T 0.414 P ID=COSM328667,COSM328668;OCCURENCE=1(liver) Pathogenic 1_182778367_G->A 1 182778367 182778367 G A snp 3197.05 1/1 99 127 1 126 0.99 intronic rs971040 NPL AU NM_001200050 exon3 c.173+2701G>A 0.994808 1 0.9992 1 0.01 T 0.000 P -1.010 T Uncertain 1_182829456_A->G 1 182829456 182829456 A G snp 229.77 0/1 99 13 5 8 0.62 intronic rs182522130 DHX9 AU NM_001357 exon12 c.17618+137A>G 0.00159744 0.0079 Uncertain 1_182850727_T->C 1 182850727 182850727 T C snp 1796.77 1/1 99 55 0 55 1.0 exonic rs6677840 DHX9 AU synonymous SNV NM_001357 exon24 c.T2859C p.T953T 0.984625 1 0.987388 0.9963 1 Uncertain 1_182854017_G->A 1 182854017 182854017 G A snp 937.77 1/1 69 35 0 35 1.0 intronic rs3130492 DHX9 AU NM_001357 exon27 c.42247+69G>A 0.783946 0.9008 Uncertain 1_182993025_C->T 1 182993025 182993025 C T snp 7487.77 1/1 99 250 0 250 1.0 exonic rs10911194 LAMC1 AU synonymous SNV NM_002293 exon1 c.C174T p.A58A 0.519569 0.628 0.480547 0.5580 0.6314 Uncertain 1_182993438_T->C 1 182993438 182993438 T C snp 44.74 1/1 6 2 0 2 1.0 intronic rs10911195 LAMC1 AU NM_002293 exon1 c.418+169T>C 0.519569 0.628 Uncertain 1_183072590_T->C 1 183072590 183072590 T C snp 4711.77 1/1 99 163 0 163 1.0 exonic rs2296288 LAMC1 AU synonymous SNV NM_002293 exon2 c.T546C p.C182C 0.531949 0.628 0.505151 0.5737 0.6295 Uncertain 1_183072908_T->C 1 183072908 183072908 T C snp 50.74 1/1 6 2 0 2 1.0 intronic rs10797835 LAMC1 AU NM_002293 exon2 c.79916+141T>C 0.53135 0.628 Uncertain 1_183077296_-->G 1 183077296 183077296 - G indel 1235.73 1/1 84 29 0 29 1.0 intronic rs3835273 LAMC1 AU NM_002293 exon3 c.84559-114insG 0.53135 0.629 Uncertain 1_183077615_C->T 1 183077615 183077615 C T snp 725.77 1/1 54 18 0 18 1.0 intronic rs3765521 LAMC1 AU NM_002293 exon3 c.84690+74C>T 0.505192 0.629 Uncertain 1_183077618_C->T 1 183077618 183077618 C T snp 706.77 1/1 54 18 0 18 1.0 intronic rs3765522 LAMC1 AU NM_002293 exon3 c.84690+77C>T 0.531749 0.629 Uncertain 1_183079509_C->T 1 183079509 183079509 C T snp 981.77 1/1 72 27 0 27 1.0 intronic rs2296291 LAMC1 AU NM_002293 exon4 c.86771-113C>T 0.531749 0.629 Uncertain 1_183079749_G->A 1 183079749 183079749 G A snp 1719.77 0/1 99 164 88 76 0.46 exonic rs111388231 LAMC1 AU synonymous SNV NM_002293 exon4 c.G981A p.P327P 0.000199681 0.001 0.0004 0.0047 ID=COSM1560395;OCCURENCE=1(large_intestine) Uncertain 1_183079853_T->C 1 183079853 183079853 T C snp 731.77 0/1 99 31 9 22 0.71 intronic rs6672093 LAMC1 AU NM_002293 exon4 c.86938+64T>C 0.504992 0.628 Uncertain 1_183084607_A->G 1 183084607 183084607 A G snp 2214.77 1/1 99 72 0 72 1.0 intronic rs3736888 LAMC1 AU NM_002293 exon6 c.91803-47A>G 0.530351 0.628 0.035138 0.5695 0.6244 Uncertain 1_183084608_C->A 1 183084608 183084608 C A snp 2182.77 1/1 99 72 0 72 1.0 intronic rs2027082 LAMC1 AU NM_002293 exon6 c.91803-46C>A 0.530351 0.628 0.048362 0.5695 0.6241 Uncertain 1_183085611_-->A 1 183085611 183085611 - A indel 126.75 1/1 23 8 0 8 1.0 intronic rs10689020 LAMC1 AU NM_002293 exon7 c.92860-100insA 0.346246 0.4375 Uncertain 1_183085696_A->G 1 183085696 183085696 A G snp 3299.77 1/1 99 125 1 124 0.99 intronic rs6424888 LAMC1 AU NM_002293 exon7 c.92860-15A>G 0.530152 0.628 0.503152 0.5727 0.6291 Uncertain 1_183085755_A->G 1 183085755 183085755 A G snp 5486.77 1/1 99 206 0 206 1.0 exonic rs20563 LAMC1 AU nonsynonymous SNV NM_002293 exon7 c.A1372G p.I458V 0.531749 0.628 0.503460 0.5725 0.6295 1 T 0.0 P -1.041 T 0.0 T 0.0 T Pathogenic 1_183086190_T->C 1 183086190 183086190 T C snp 38.77 0/1 67 5 3 2 0.4 intronic rs10911253 LAMC1 AU NM_002293 exon8 c.93187+152T>C 0.336661 0.5159 Uncertain 1_183086586_G->A 1 183086586 183086586 G A snp 2108.77 0/1 99 181 94 87 0.48 intronic rs544527088 LAMC1 AU NM_002293 exon9 c.93726+9G>A 0.000199681 0.001 0.0004 0.0048 Uncertain 1_183086757_A->C 1 183086757 183086757 A C snp 2681.77 1/1 99 92 0 92 1.0 exonic rs2296292 LAMC1 AU synonymous SNV NM_002293 exon10 c.A1776C p.A592A 0.531749 0.628 0.503537 0.5724 0.6290 Uncertain 1_183086772_T->C 1 183086772 183086772 T C snp 728.77 0/1 99 84 53 31 0.37 exonic rs527705926 LAMC1 AU synonymous SNV NM_002293 exon10 c.T1791C p.L597L 0.000199681 0.001 0.0004 0.0047 Uncertain 1_183093875_T->C 1 183093875 183093875 T C snp 3444.77 1/1 99 116 1 115 0.99 exonic rs20557 LAMC1 AU synonymous SNV NM_002293 exon14 c.T2511C p.N837N 0.531749 0.628 0.503460 0.5724 0.6278 Uncertain 1_183094547_T->C 1 183094547 183094547 T C snp 4387.77 1/1 99 150 0 150 1.0 exonic rs20558 LAMC1 AU nonsynonymous SNV NM_002293 exon15 c.T2663C p.L888P 0.531749 0.628 0.503460 0.5723 0.6287 1 T 0.998 P -0.940 T 0.0 T 0.0 T Pathogenic 1_183094802_G->A 1 183094802 183094802 G A snp 74.77 0/1 99 8 5 3 0.38 intronic rs10797850 LAMC1 AU NM_002293 exon15 c.101834+117G>A 0.336462 0.5159 Uncertain 1_183095186_AA->- 1 183095186 183095187 AA - indel 2597.73 1/1 99 77 0 77 1.0 intronic rs398049833 LAMC1 AU NM_002293 exon16 c.102403-68_102403-67delAA 0.489816 0.5536 Uncertain 1_183095234_A->G 1 183095234 183095234 A G snp 4148.77 1/1 99 133 0 133 1.0 intronic rs1886501 LAMC1 AU NM_002293 exon16 c.102403-20A>G 0.531749 0.628 0.503383 0.5748 0.6279 Uncertain 1_183095477_G->A 1 183095477 183095477 G A snp 3014.77 1/1 99 104 1 103 0.99 intronic rs2296293 LAMC1 AU NM_002293 exon16 c.102546+80G>A 0.531749 0.628 Uncertain 1_183096634_G->A 1 183096634 183096634 G A snp 396.77 1/1 30 13 0 13 1.0 intronic rs1413390 LAMC1 AU NM_002293 exon17 c.103688+95G>A 0.531749 0.628 Uncertain 1_183096668_C->T 1 183096668 183096668 C T snp 171.9 1/1 15 5 0 5 1.0 intronic rs1413389 LAMC1 AU NM_002293 exon17 c.103688+129C>T 0.531749 0.628 Uncertain 1_183096694_T->C 1 183096694 183096694 T C snp 54.74 1/1 6 2 0 2 1.0 intronic rs1413388 LAMC1 AU NM_002293 exon17 c.103688+155T>C 0.531749 0.628 Uncertain 1_183097956_-->TTA 1 183097956 183097956 - TTA indel 1725.73 1/1 90 32 0 32 1.0 intronic rs113559578 LAMC1 AU NM_002293 exon18 c.105034+71insTTA 0.53155 0.628 Uncertain 1_183098001_A->G 1 183098001 183098001 A G snp 516.77 1/1 39 19 0 19 1.0 intronic rs10797851 LAMC1 AU NM_002293 exon18 c.105034+116A>G 0.53155 0.628 Uncertain 1_183099380_T->C 1 183099380 183099380 T C snp 175.77 0/1 99 14 7 7 0.5 intronic rs1360704 LAMC1 AU NM_002293 exon19 c.106627-98T>C 0.33726 0.5159 Uncertain 1_183099424_G->A 1 183099424 183099424 G A snp 785.77 0/1 99 58 30 28 0.48 intronic rs565284584 LAMC1 AU NM_002293 exon19 c.106627-54G>A 0.000199681 0.001 Uncertain 1_183099701_G->A 1 183099701 183099701 G A snp 1214.77 1/1 90 35 0 35 1.0 intronic rs2296300 LAMC1 AU NM_002293 exon19 c.106833+17G>A 0.531749 0.628 0.503460 0.5760 0.6322 Uncertain 1_183100555_T->C 1 183100555 183100555 T C snp 3700.77 1/1 99 134 0 134 1.0 intronic rs2333620 LAMC1 AU NM_002293 exon20 c.107662+42T>C 0.53095 0.628 0.503306 0.5690 0.6222 Uncertain 1_183100563_G->T 1 183100563 183100563 G T snp 3545.77 1/1 99 113 0 113 1.0 intronic rs4997370 LAMC1 AU NM_002293 exon20 c.107662+50G>T 0.575479 0.6756 Uncertain 1_183100596_A->G 1 183100596 183100596 A G snp 869.77 1/1 66 23 0 23 1.0 intronic rs2333619 LAMC1 AU NM_002293 exon20 c.107662+83A>G 0.530751 0.624 Uncertain 1_183100598_T->G 1 183100598 183100598 T G snp 715.77 1/1 54 18 0 18 1.0 intronic rs4047797 LAMC1 AU NM_002293 exon20 c.107662+85T>G 0.525759 0.624 Uncertain 1_183101444_A->C 1 183101444 183101444 A C snp 383.77 1/1 30 13 0 13 1.0 intronic rs12071514 LAMC1 AU NM_002293 exon21 c.108683-90A>C 0.546925 0.6458 Uncertain 1_183101451_T->G 1 183101451 183101451 T G snp 223.77 0/1 99 18 8 10 0.56 intronic rs12066735 LAMC1 AU NM_002293 exon21 c.108683-83T>G 0.342652 0.5159 Uncertain 1_183101471_G->A 1 183101471 183101471 G A snp 1233.77 1/1 54 37 1 36 0.97 intronic rs12061219 LAMC1 AU NM_002293 exon21 c.108683-63G>A 0.53155 0.628 Uncertain 1_183101686_G->A 1 183101686 183101686 G A snp 5374.77 1/1 99 196 0 196 1.0 intronic rs12095664 LAMC1 AU NM_002293 exon21 c.108821+14G>A 0.531749 0.628 0.503152 0.5725 0.6276 Uncertain 1_183104013_G->A 1 183104013 183104013 G A snp 3572.77 1/1 99 122 0 122 1.0 intronic rs2296299 LAMC1 AU NM_002293 exon23 c.111093+69G>A 0.429912 0.5188 Uncertain 1_183104341_T->- 1 183104341 183104341 T - indel 1614.73 1/1 99 75 0 75 1.0 intronic rs35182436 LAMC1 AU NM_002293 exon24 c.111440+50delT 0.577077 0.624 0.6117 0.6505 Uncertain 1_183105399_C->G 1 183105399 183105399 C G snp 787.77 1/1 60 23 0 23 1.0 intronic rs2296296 LAMC1 AU NM_002293 exon25 c.112669-121C>G 0.552915 0.62 Uncertain 1_183105534_T->C 1 183105534 183105534 T C snp 1782.77 0/1 99 181 104 77 0.43 exonic rs20560 LAMC1 AU synonymous SNV NM_002293 exon25 c.T4128C p.R1376R 0.560503 0.625 0.539905 0.5808 0.6276 Uncertain 1_183105705_G->A 1 183105705 183105705 G A snp 1431.77 0/1 99 116 61 55 0.47 exonic rs20561 LAMC1 AU synonymous SNV NM_002293 exon25 c.G4299A p.A1433A 0.351837 0.5109 0.358757 0.4498 0.5292 Uncertain 1_183106739_G->A 1 183106739 183106739 G A snp 740.77 1/1 57 25 0 25 1.0 intronic rs10797854 LAMC1 AU NM_002293 exon26 c.113952-64G>A 0.520168 0.622 Uncertain 1_183112041_G->C 1 183112041 183112041 G C snp 222.84 1/1 18 6 0 6 1.0 UTR3 rs3359 LAMC1 AU 0.576278 0.622 Uncertain 1_183155399_A->G 1 183155399 183155399 A G snp 85.77 0/1 57 6 2 4 0.67 UTR5 rs2276542 LAMC2 AR 0.209065 0.3016 Uncertain 1_183155482_C->A 1 183155482 183155482 C A snp 643.77 0/1 99 41 17 24 0.59 UTR5 rs684527 LAMC2 AR 0.27476 0.4315 0.221822 0.3799 0.4816 Uncertain 1_183155700_C->A 1 183155700 183155700 C A snp 696.77 0/1 99 73 41 32 0.44 intronic rs6678888 LAMC2 AR NM_005562 exon1 c.79+134C>A 0.321286 0.4365 Uncertain 1_183155716_T->- 1 183155716 183155716 T - indel 1948.73 1/1 99 61 0 61 1.0 intronic rs60707856 LAMC2 AR NM_005562 exon1 c.79+150delT 0.612021 0.7014 Uncertain 1_183155717_C->A 1 183155717 183155717 C A snp 1552.77 1/1 99 49 0 49 1.0 intronic rs61418038 LAMC2 AR NM_005562 exon1 c.79+151C>A 0.612021 0.7014 Uncertain 1_183155778_A->C 1 183155778 183155778 A C snp 222.84 1/1 18 7 0 7 1.0 intronic rs6703054 LAMC2 AR NM_005562 exon1 c.79+212A>C 0.611621 0.7004 Uncertain 1_183176970_-->T 1 183176970 183176970 - T indel 445.73 ./1 99 46 1 45 0.98 intronic rs11480551 LAMC2 AR NM_005562 exon2 c.21528-45insT 0.2586 0.2978 Uncertain 1_183176970_-->TT 1 183176970 183176970 - TT indel 445.73 ./1 99 46 1 45 0.98 intronic rs10668798 LAMC2 AR NM_005562 exon2 c.21528-45insTT 0.1477 0.1218 Uncertain 1_183177218_A->G 1 183177218 183177218 A G snp 798.77 1/1 60 22 0 22 1.0 intronic rs647347 LAMC2 AR NM_005562 exon2 c.21717+14A>G 0.496206 0.5734 0.447486 0.4739 0.5727 Uncertain 1_183259125_G->A 1 183259125 183259125 G A snp 41.74 1/1 6 2 0 2 1.0 intronic rs2301877 NMNAT2 AU NM_015039 exon8 c.37487-137G>A 0.254792 0.3006 Uncertain 1_183261710_A->G 1 183261710 183261710 A G snp 176.9 1/1 15 5 0 5 1.0 intronic rs944189 NMNAT2 AU NM_015039 exon9 c.40149-214A>G 0.521565 0.5397 Uncertain 1_183441977_C->T 1 183441977 183441977 C T snp 142.77 0/1 99 23 14 9 0.39 intronic rs3905118 SMG7 AU NM_201568 exon1 c.29+193C>T 0.183307 0.0952 Uncertain 1_183471295_G->T 1 183471295 183471295 G T snp 263.8 1/1 21 9 0 9 1.0 intronic rs789193 SMG7 AU NM_201568 exon2 c.40216-10676G>T 0.941893 0.998 Uncertain 1_183486859_G->A 1 183486859 183486859 G A snp 5964.77 1/1 99 214 0 214 1.0 exonic rs789169 SMG7 AU synonymous SNV NM_001174061 exon3 c.G90A p.L30L 0.941893 0.998 0.896740 0.9037 0.9992 Uncertain 1_183496658_A->G 1 183496658 183496658 A G snp 58.77 0/1 87 11 8 3 0.27 intronic rs2877978 SMG7 AU NM_201568 exon6 c.55335-432A>G 0.176917 0.0923 Uncertain 1_183516100_G->C 1 183516100 183516100 G C snp 94.77 0/1 99 19 14 5 0.26 intronic rs699246 SMG7 AU NM_001174061 exon17 c.31164-137G>C 0.571486 0.6548 Uncertain 1_183516440_G->A 1 183516440 183516440 G A snp 358.77 0/1 99 20 5 15 0.75 intronic rs2702182 SMG7 AU NM_001174061 exon17 c.31314+53G>A 0.329073 0.5238 Uncertain 1_183525452_T->G 1 183525452 183525452 T G snp 3683.77 1/1 99 120 0 120 1.0 intronic rs699244 NCF2 AR NM_001190789 exon1 c.113+87T>G 0.927516 0.998 Uncertain 1_183534935_C->T 1 183534935 183534935 C T snp 618.77 0/1 99 52 24 28 0.54 intronic rs2296164 NCF2 AR NM_001190789 exon6 c.9662+21C>T 0.477636 0.6081 0.429110 0.4832 0.6146 Uncertain 1_183542387_T->C 1 183542387 183542387 T C snp 1476.77 0/1 99 109 50 59 0.54 exonic rs2274064 NCF2 AR nonsynonymous SNV NM_000433 exon5 c.A542G p.K181R 0.491613 0.621 0.430032 0.4895 0.6286 0.86 T 1.000 P -0.933 T 0.0 T 0.001 T Pathogenic 1_183546997_T->C 1 183546997 183546997 T C snp 149.77 0/1 99 11 5 6 0.55 intronic rs13306576 NCF2 AR NM_001190789 exon11 c.21590+155T>C 0.00419329 0.0208 Uncertain 1_183711483_C->T 1 183711483 183711483 C T snp 1010.77 1/1 72 34 0 34 1.0 intronic rs3820689 RGL1 AU NM_001297669 exon3 c.132+59C>T 0.485623 0.7827 Uncertain 1_183816645_A->G 1 183816645 183816645 A G snp 179.77 0/1 99 18 11 7 0.39 intronic rs116915346 RGL1 AU NM_001297669 exon4 c.105407-54A>G 0.000998403 0.005 Uncertain 1_183852914_G->C 1 183852914 183852914 G C snp 2764.77 1/1 99 98 0 98 1.0 splicing rs10797919 RGL1 AU NM_001297669 exon7 c.141627-5G>C 0.453275 0.5099 0.441489 0.4249 0.5121 Pathogenic 1_183867085_C->T 1 183867085 183867085 C T snp 1680.77 1/1 99 47 0 47 1.0 intronic rs3814330 RGL1 AU NM_001297669 exon11 c.155739+54C>T 0.367013 0.499 0.302891 Uncertain 1_183871637_G->A 1 183871637 183871637 G A snp 1434.77 1/1 99 49 0 49 1.0 intronic rs4604659 RGL1 AU NM_001297669 exon13 c.160409-64G>A 0.552915 0.5694 0.557381 Uncertain 1_183873898_A->G 1 183873898 183873898 A G snp 393.77 1/1 30 11 0 11 1.0 intronic rs10797920 RGL1 AU NM_001297669 exon14 c.162691-85A>G 0.352835 0.5 Uncertain 1_183875923_C->- 1 183875923 183875923 C - indel 167.87 1/1 15 5 0 5 1.0 intronic rs75298680 RGL1 AU NM_001297669 exon15 c.164853-222delC 0.34984 0.497 Uncertain 1_183876287_T->C 1 183876287 183876287 T C snp 1016.77 1/1 75 30 0 30 1.0 intronic rs16861715 RGL1 AU NM_001297669 exon15 c.164943+52T>C 0.311302 0.497 0.256188 0.3160 0.5025 Uncertain 1_183891159_C->G 1 183891159 183891159 C G snp 1488.77 1/1 99 40 0 40 1.0 intronic rs11803613 RGL1 AU NM_001297669 exon18 c.180063-196C>G 0.348043 0.498 Uncertain 1_183895178_G->A 1 183895178 183895178 G A snp 3830.77 1/1 99 144 1 143 0.99 intronic rs4328036 RGL1 AU NM_001297669 exon19 c.183946-60G>A 0.563898 0.5764 Uncertain 1_183920391_C->T 1 183920391 183920391 C T snp 225.84 1/1 18 7 0 7 1.0 intronic rs2986549 COLGALT2 AU NM_001303420 exon5 c.20885+144C>T 0.866014 0.996 Uncertain 1_183942950_C->T 1 183942950 183942950 C T snp 404.77 0/1 99 35 19 16 0.46 intronic rs2296714 COLGALT2 AU NM_001303420 exon9 c.43522+66C>T 0.458666 0.3115 Uncertain 1_183944089_A->C 1 183944089 183944089 A C snp 269.77 0/1 99 15 6 9 0.6 intronic rs2077202 COLGALT2 AU NM_001303420 exon10 c.44868-141A>C 0.51238 0.3224 Uncertain 1_183944444_C->T 1 183944444 183944444 C T snp 73.77 0/1 99 10 6 4 0.4 intronic rs2378795 COLGALT2 AU NM_001303420 exon10 c.44986+96C>T 0.511182 0.3224 Uncertain 1_183944449_G->A 1 183944449 183944449 G A snp 195.77 0/1 99 9 3 6 0.67 intronic rs3762257 COLGALT2 AU NM_001303420 exon10 c.44986+101G>A 0.00758786 0.0377 Uncertain 1_184006128_A->G 1 184006128 184006128 A G snp 137.77 0/1 99 12 6 6 0.5 intronic rs74767794 COLGALT2 AU NM_001303420 exon12 c.106866-100A>G 0.305312 0.4425 Uncertain 1_184006549_C->G 1 184006549 184006549 C G snp 161.77 0/1 99 11 5 6 0.55 UTR5 rs114661926 COLGALT2 AU 0.283746 0.4425 Uncertain 1_184020788_G->A 1 184020788 184020788 G A snp 94.28 1/1 9 3 0 3 1.0 UTR5 rs530483302 TSEN15 AU 0.00239617 0.0099 Uncertain 1_184476621_T->C 1 184476621 184476621 T C snp 151.77 0/1 99 10 5 5 0.5 intronic rs9633308 C1orf21 AU NM_030806 exon3 c.30078-100T>C 0.577476 0.5179 Uncertain 1_184662181_C->T 1 184662181 184662181 C T snp 1717.77 0/1 99 133 60 73 0.55 UTR3 rs1061508 EDEM3 AU 0.434704 0.63 Uncertain 1_184663537_A->C 1 184663537 184663537 A C snp 1482.77 0/1 99 131 69 62 0.47 exonic rs9425343 EDEM3 AU nonsynonymous SNV NM_025191 exon20 c.T2459G p.I820S 0.353435 0.5784 0.286373 0.3911 0.5492 0.73 T 0.0 P -0.951 T 0.001 T 0.002 T Pathogenic 1_184663581_T->C 1 184663581 184663581 T C snp 616.77 0/1 99 73 45 28 0.38 exonic rs9425634 EDEM3 AU synonymous SNV NM_025191 exon20 c.A2415G p.Q805Q 0.422125 0.5873 0.375173 0.4555 0.5675 Uncertain 1_184663644_A->- 1 184663644 184663644 A - indel 87.73 0/1 99 19 12 7 0.37 intronic rs34236444 EDEM3 AU NM_025191 exon1 c.410+38delA 0.433906 0.63 0.378484 0.4463 0.5939 Uncertain 1_184675814_G->A 1 184675814 184675814 G A snp 2563.77 0/1 99 250 132 118 0.47 exonic rs1062994 EDEM3 AU synonymous SNV NM_025191 exon18 c.C2166T p.N722N 0.350639 0.5784 0.284484 0.3867 0.5471 Uncertain 1_184677464_G->A 1 184677464 184677464 G A snp 1469.77 0/1 99 138 76 62 0.45 exonic rs3736757 EDEM3 AU synonymous SNV NM_025191 exon17 c.C1860T p.I620I 0.651957 0.7004 0.582590 0.5353 0.6815 Uncertain 1_184681081_A->G 1 184681081 184681081 A G snp 99.77 0/1 99 11 7 4 0.36 intronic rs7525074 EDEM3 AU NM_025191 exon6 c.17815+70A>G 0.652756 0.7004 Uncertain 1_184695571_C->T 1 184695571 184695571 C T snp 528.77 0/1 99 45 27 18 0.4 intronic rs10752941 EDEM3 AU NM_025191 exon14 c.32327+48C>T 0.648562 0.7004 0.577680 0.5334 0.6806 Uncertain 1_184706213_T->- 1 184706213 184706213 T - indel 979.73 0/1 99 58 28 30 0.52 intronic rs10711907 EDEM3 AU NM_025191 exon17 c.43002+15delT 0.642971 0.7004 0.575712 0.5336 0.6807 Uncertain 1_184718751_AAA->- 1 184718751 184718753 AAA - indel 201.82 0/1 17 11 1 10 0.91 intronic rs35957626 EDEM3 AU NM_025191 exon19 c.55530+25_55530+27delAAA 0.384185 0.5397 0.4273 0.4929 Uncertain 1_184760001_T->C 1 184760001 184760001 T C snp 834.77 0/1 99 47 16 31 0.66 downstream rs570441 FAM129A AU 0.572684 0.6508 Uncertain 1_184764067_C->G 1 184764067 184764067 C G snp 2805.77 0/1 99 249 139 110 0.44 UTR3 rs581100 FAM129A AU 0.371006 0.5635 0.323235 0.3847 0.5049 Uncertain 1_184777079_G->A 1 184777079 184777079 G A snp 822.77 0/1 99 45 20 25 0.56 intronic rs338564 FAM129A AU NM_052966 exon5 c.13097-128G>A 0.378195 0.4861 0.2790 0.4718 Uncertain 1_184777101_G->A 1 184777101 184777101 G A snp 1071.77 0/1 99 82 46 36 0.44 intronic rs338565 FAM129A AU NM_052966 exon5 c.13097-106G>A 0.379193 0.4901 0.2806 0.4692 Uncertain 1_184777177_C->A 1 184777177 184777177 C A snp 2765.77 0/1 99 247 125 122 0.49 intronic rs543912 FAM129A AU NM_052966 exon5 c.13097-30C>A 0.217053 0.4058 0.139705 0.2172 0.3573 Uncertain 1_184777467_A->T 1 184777467 184777467 A T snp 331.77 0/1 99 19 7 12 0.63 intronic rs338566 FAM129A AU NM_052966 exon5 c.13259+98A>T 0.46246 0.5397 Uncertain 1_185119794_C->T 1 185119794 185119794 C T snp 651.77 1/1 48 21 0 21 1.0 intronic rs1544051 TRMT1L AU NM_001202423 exon13 c.30474+170C>T 0.999002 1 Uncertain 1_185267114_A->G 1 185267114 185267114 A G snp 480.77 0/1 99 37 20 17 0.46 UTR3 rs10174 IVNS1ABP AU 0.438299 0.247 Uncertain 1_185972777_G->A 1 185972777 185972777 G A snp 1686.77 0/1 99 117 58 59 0.5 intronic HMCN1 AD NM_031935 exon29 c.268938-72G>A Uncertain 1_185984517_T->C 1 185984517 185984517 T C snp 2600.77 0/1 99 215 108 107 0.5 exonic rs6665753 HMCN1 AD synonymous SNV NM_031935 exon31 c.T4857C p.H1619H 0.343051 0.4216 0.346432 0.4271 0.3851 Uncertain 1_186007217_A->G 1 186007217 186007217 A G snp 1172.77 0/1 99 76 30 46 0.61 intronic rs78606652 HMCN1 AD NM_031935 exon37 c.303256+50A>G 0.0171725 0.0813 0.000154 0.0040 0.0500 Uncertain 1_186022032_T->G 1 186022032 186022032 T G snp 735.77 0/1 99 47 19 28 0.6 intronic rs10911808 HMCN1 AD NM_031935 exon43 c.318172-51T>G 0.67472 0.5933 0.637251 Uncertain 1_186026474_T->C 1 186026474 186026474 T C snp 2094.77 0/1 99 181 84 97 0.54 exonic rs12129650 HMCN1 AD nonsynonymous SNV NM_031935 exon46 c.T7253C p.I2418T 0.529952 0.5675 0.525373 0.5389 0.6098 0.05 T 1.000 P -0.910 T 0.918 T 0.446 D Pathogenic 1_186030902_G->T 1 186030902 186030902 G T snp 347.77 0/1 99 38 23 15 0.39 ncRNA_intronic rs10737266 MIR548F1 AU 0.629992 0.5734 Uncertain 1_186031041_C->T 1 186031041 186031041 C T snp 1837.77 0/1 99 174 89 85 0.49 exonic rs7522627 HMCN1 AD synonymous SNV NM_031935 exon47 c.C7371T p.C2457C 0.654353 0.5903 0.628402 0.5980 0.6340 Uncertain 1_186039006_C->T 1 186039006 186039006 C T snp 147.77 0/1 99 12 7 5 0.42 ncRNA_intronic rs761905 MIR548F1 AU 0.651358 0.5754 Uncertain 1_186050417_A->G 1 186050417 186050417 A G snp 982.77 0/1 99 121 76 45 0.37 exonic rs10798035 HMCN1 AD nonsynonymous SNV NM_031935 exon56 c.A8678G p.E2893G 0.582668 0.5694 0.554975 0.5453 0.6124 0.1 T 1.000 P -0.918 T 0.999 D 0.996 D CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000082286.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 1_186055371_A->G 1 186055371 186055371 A G snp 1298.77 0/1 99 85 39 46 0.54 ncRNA_intronic rs6425017 MIR548F1 AU 0.661342 0.5794 0.628114 0.5783 0.6201 Uncertain 1_186057181_T->C 1 186057181 186057181 T C snp 2286.77 0/1 99 186 90 96 0.52 ncRNA_intronic rs10911816 MIR548F1 AU 0.686502 0.5942 0.639090 0.5898 0.6411 Uncertain 1_186077463_A->G 1 186077463 186077463 A G snp 183.77 0/1 99 13 7 6 0.46 ncRNA_intronic rs1555495 MIR548F1 AU 0.633187 0.5744 Uncertain 1_186081918_C->T 1 186081918 186081918 C T snp 1236.77 0/1 99 124 69 55 0.44 ncRNA_intronic rs7555520 MIR548F1 AU 0.686102 0.5913 0.638551 0.5854 0.6346 Uncertain 1_186086578_G->A 1 186086578 186086578 G A snp 835.77 0/1 99 105 63 42 0.4 ncRNA_intronic rs10157742 MIR548F1 AU 0.675519 0.5933 0.632631 0.5757 0.6389 Uncertain 1_186089072_G->A 1 186089072 186089072 G A snp 1975.77 0/1 99 155 70 85 0.55 ncRNA_intronic rs2891230 MIR548F1 AU 0.377396 0.5079 Uncertain 1_186089112_T->C 1 186089112 186089112 T C snp 1611.77 0/1 99 155 81 74 0.48 ncRNA_intronic rs2383434 MIR548F1 AU 0.472045 0.5159 0.374885 0.4068 0.5523 Uncertain 1_186089363_C->A 1 186089363 186089363 C A snp 166.77 0/1 99 21 14 7 0.33 ncRNA_intronic rs10752962 MIR548F1 AU 0.467851 0.5407 Uncertain 1_186092076_A->C 1 186092076 186092076 A C snp 420.77 0/1 99 25 8 17 0.68 ncRNA_intronic rs2057388 MIR548F1 AU 0.599441 0.5724 0.509150 0.4716 0.6131 Uncertain 1_186092206_C->G 1 186092206 186092206 C G snp 1252.77 0/1 99 88 39 49 0.56 exonic HMCN1 AD nonsynonymous SNV NM_031935 exon81 c.C12353G p.A4118G 0.32 T 1 N -0.971 T 0.571 P 0.386 P Pathogenic 1_186092540_A->G 1 186092540 186092540 A G snp 122.77 0/1 64 6 2 4 0.67 ncRNA_intronic rs6698064 MIR548F1 AU 0.55631 0.5724 Uncertain 1_186101539_A->G 1 186101539 186101539 A G snp 1870.77 0/1 99 143 64 79 0.55 exonic rs10911825 HMCN1 AD nonsynonymous SNV NM_031935 exon86 c.A13310G p.Q4437R 0.484425 0.5685 0.369963 0.4082 0.6292 0.58 T 1.000 P -0.931 T 0.735 T 0.46 P Pathogenic 1_186113348_C->T 1 186113348 186113348 C T snp 1867.77 0/1 99 135 51 84 0.62 exonic rs3737942 HMCN1 AD synonymous SNV NM_031935 exon90 c.C13968T p.S4656S 0.0401358 0.0794 0.002691 0.0336 0.1024 Uncertain 1_186113931_T->G 1 186113931 186113931 T G snp 846.77 0/1 99 66 36 30 0.45 ncRNA_intronic rs3737941 MIR548F1 AU 0.442292 0.5506 Uncertain 1_186114325_A->G 1 186114325 186114325 A G snp 54.74 1/1 6 2 0 2 1.0 ncRNA_intronic rs1322374 MIR548F1 AU 0.439297 0.5446 Uncertain 1_186114444_T->- 1 186114444 186114444 T - indel 753.73 0/1 99 47 18 29 0.62 ncRNA_intronic rs5779272 MIR548F1 AU Uncertain 1_186141181_C->G 1 186141181 186141181 C G snp 2278.77 0/1 99 187 85 102 0.55 exonic rs75161007 HMCN1 AD nonsynonymous SNV NM_031935 exon102 c.C15732G p.H5244Q 0.0209665 0.0913 0.001000 0.0091 0.0757 0.6 T 0.707 N -0.903 T 0.01 T 0.015 T ID=CM1410152;DIS=Splenic epidermoid cyst;TAG=DM?;PUB=25338956 DM? Pathogenic 1_186141301_G->A 1 186141301 186141301 G A snp 2353.77 0/1 99 172 72 100 0.58 ncRNA_intronic rs4651302 MIR548F1 AU 0.655551 0.5863 0.589882 0.5409 0.6255 Uncertain 1_186157184_T->G 1 186157184 186157184 T G snp 2600.77 0/1 99 240 128 112 0.47 ncRNA_intronic rs1008840 MIR548F1 AU 0.128794 0.0992 0.114870 0.1077 0.0998 Uncertain 1_186265948_T->A 1 186265948 186265948 T A snp 3650.77 1/1 99 136 0 136 1.0 ncRNA_intronic rs1293987 MIR548F1 AU 0.723243 0.9315 0.581253 Uncertain 1_186274133_C->T 1 186274133 186274133 C T snp 232.77 0/1 99 20 9 11 0.55 ncRNA_intronic rs6425024 MIR548F1 AU 0.175919 0.1339 Uncertain 1_186274157_G->T 1 186274157 186274157 G T snp 37.77 0/1 66 6 4 2 0.33 ncRNA_intronic rs6425025 MIR548F1 AU 0.123802 0.13 Uncertain 1_186274159_G->A 1 186274159 186274159 G A snp 40.77 0/1 69 5 3 2 0.4 ncRNA_intronic rs2273778 MIR548F1 AU 0.17512 0.13 Uncertain 1_186274175_G->A 1 186274175 186274175 G A snp 46.77 0/1 33 3 1 2 0.67 ncRNA_intronic rs2273777 MIR548F1 AU 0.175919 0.1339 Uncertain 1_186275760_G->A 1 186275760 186275760 G A snp 2797.77 0/1 99 226 111 115 0.51 exonic rs16825150 PRG4 AR synonymous SNV NM_005807 exon7 c.G909A p.K303K 0.177316 0.131 0.202445 0.1561 0.1180 Uncertain 1_186277088_G->C 1 186277088 186277088 G C snp 5797.77 1/1 99 210 0 210 1.0 exonic rs68069719 PRG4 AR nonsynonymous SNV NM_005807 exon7 c.G2237C p.C746S 1 1 0.999923 0.9998 1 0.0 P -1.047 T 0.0 T 0.0 T Pathogenic 1_186286782_A->G 1 186286782 186286782 A G snp 136.77 0/1 99 20 13 7 0.35 ncRNA_intronic rs34585917 MIR548F1 AU 0.177915 0.1339 0.196730 0.1592 0.1270 Uncertain 1_186292720_A->T 1 186292720 186292720 A T snp 37.77 0/1 66 6 4 2 0.33 ncRNA_intronic rs2273774 MIR548F1 AU 0.135583 0.3938 Uncertain 1_186295021_A->G 1 186295021 186295021 A G snp 1150.77 0/1 99 101 50 51 0.5 ncRNA_intronic rs76057663 MIR548F1 AU 0.120008 0.13 0.140010 0.1404 0.1189 Uncertain 1_186304109_C->T 1 186304109 186304109 C T snp 193.77 0/1 99 16 7 9 0.56 ncRNA_intronic rs2293569 MIR548F1 AU 0.135383 0.3938 Uncertain 1_186304298_C->T 1 186304298 186304298 C T snp 1720.77 0/1 99 161 84 77 0.48 ncRNA_intronic rs3817586 MIR548F1 AU 0.13778 0.3938 0.074030 0.1159 0.3989 Uncertain 1_186307064_T->G 1 186307064 186307064 T G snp 40.77 0/1 69 5 3 2 0.4 ncRNA_intronic rs16825185 MIR548F1 AU 0.178315 0.1349 Uncertain 1_186313249_A->G 1 186313249 186313249 A G snp 3682.77 1/1 99 127 0 127 1.0 ncRNA_intronic rs2950829 MIR548F1 AU 0.971246 0.9692 0.978301 0.9759 0.9768 Uncertain 1_186313293_G->A 1 186313293 186313293 G A snp 869.77 0/1 99 53 20 33 0.62 ncRNA_intronic rs76557279 MIR548F1 AU 0.177716 0.1339 Uncertain 1_186313830_A->G 1 186313830 186313830 A G snp 83.77 0/1 69 5 2 3 0.6 ncRNA_intronic rs16825201 MIR548F1 AU 0.124002 0.13 Uncertain 1_186314949_C->T 1 186314949 186314949 C T snp 116.77 0/1 60 6 2 4 0.67 ncRNA_intronic rs2272412 MIR548F1 AU 0.177516 0.1339 Uncertain 1_186315474_C->A 1 186315474 186315474 C A snp 350.77 0/1 99 23 10 13 0.57 ncRNA_intronic rs35942197 MIR548F1 AU 0.135184 0.3929 Uncertain 1_186316488_C->T 1 186316488 186316488 C T snp 2962.77 0/1 99 250 124 126 0.5 exonic rs3753565 TPR AU nonsynonymous SNV NM_003292 exon22 c.G2879A p.S960N 0.0980431 0.13 0.120335 0.1341 0.1179 0.08 T 0.965 P -1.188 T 0.956 T 0.63 D Pathogenic 1_186319282_C->T 1 186319282 186319282 C T snp 164.77 0/1 66 10 4 6 0.6 ncRNA_intronic rs3766701 MIR548F1 AU 0.138379 0.3929 Uncertain 1_186319580_C->A 1 186319580 186319580 C A snp 191.77 0/1 99 10 3 7 0.7 ncRNA_intronic rs6667940 MIR548F1 AU 0.176917 0.13 Uncertain 1_186326758_A->- 1 186326758 186326758 A - indel 905.73 0/1 99 61 27 34 0.56 splicing rs3841803 TPR AU NM_003292 exon38 c.43653+3delA 0.138379 0.3929 0.075784 0.1174 0.4013 Pathogenic 1_186329257_C->A 1 186329257 186329257 C A snp 50.74 1/1 6 2 0 2 1.0 ncRNA_intronic rs878041 MIR548F1 AU 0.56849 0.6548 Uncertain 1_186329869_C->G 1 186329869 186329869 C G snp 1609.77 1/1 99 57 0 57 1.0 ncRNA_intronic rs2026187 MIR548F1 AU 0.56869 0.6548 0.600118 0.5828 0.6607 Uncertain 1_186330643_T->C 1 186330643 186330643 T C snp 759.77 1/1 57 20 0 20 1.0 ncRNA_intronic rs10494586 MIR548F1 AU 0.561302 0.6548 Uncertain 1_186330700_-->G 1 186330700 186330700 - G indel 4306.73 1/1 99 97 0 97 1.0 ncRNA_intronic rs36117514 MIR548F1 AU 0.33147 0.5288 0.288325 Uncertain 1_186342323_C->G 1 186342323 186342323 C G snp 56.74 1/1 6 3 0 3 1.0 ncRNA_intronic rs7514615 MIR548F1 AU 0.124002 0.13 Uncertain 1_186344876_-->G 1 186344876 186344876 - G indel 173.73 0/1 99 18 5 13 0.72 ncRNA_intronic rs3831933 MIR548F1 AU 0.110623 0.13 Uncertain 1_186357523_T->C 1 186357523 186357523 T C snp 615.77 1/1 45 20 0 20 1.0 ncRNA_intronic rs1290390 MIR548F1 AU 0.977436 0.9683 Uncertain 1_186360814_G->A 1 186360814 186360814 G A snp 228.77 0/1 99 29 16 13 0.45 ncRNA_intronic rs77026585 MIR548F1 AU 0.135583 0.3938 0.071404 0.1843 0.4776 Uncertain 1_186363211_T->C 1 186363211 186363211 T C snp 70.77 0/1 99 13 9 4 0.31 ncRNA_intronic rs12728791 MIR548F1 AU 0.138778 0.3938 Uncertain 1_186367619_C->T 1 186367619 186367619 C T snp 645.77 0/1 99 51 28 23 0.45 ncRNA_intronic rs3766698 MIR548F1 AU 0.135383 0.3938 0.071088 0.1146 0.3956 Uncertain 1_186413714_G->C 1 186413714 186413714 G C snp 369.77 0/1 99 19 7 12 0.63 ncRNA_intronic rs11812050 LOC102724919 AU 0.167332 0.3889 Uncertain 1_186649221_A->G 1 186649221 186649221 A G snp 1279.77 1/1 93 45 0 45 1.0 intronic rs2745557 PTGS2 AU NM_000963 exon10 c.5886-149A>G 0.854034 0.9683 Uncertain 1_186839880_AG->- 1 186839880 186839881 AG - indel 2120.73 0/1 99 146 85 61 0.42 intronic rs12720508 PLA2G4A AU NM_024420 exon3 c.16162+232_16162+233delAG 0.285543 0.4375 0.3122 0.5138 Uncertain 1_186862419_A->G 1 186862419 186862419 A G snp 186.77 0/1 99 15 7 8 0.53 intronic rs7519192 PLA2G4A AU NM_024420 exon4 c.38805+128A>G 0.271166 0.1409 Uncertain 1_186863386_AA->- 1 186863386 186863387 AA - indel 420.73 0/1 99 27 12 15 0.56 intronic rs2307193 PLA2G4A AU NM_024420 exon5 c.39857+43_39857+44delAA 0.448083 0.3343 0.398945 0.3926 0.3504 Uncertain 1_186901739_TCTTCTTTTAAAA->- 1 186901739 186901751 TCTTCTTTTAAAA - indel 753.73 0/1 99 12 7 5 0.42 intronic rs12720584 PLA2G4A AU NM_024420 exon8 c.78408-155_78408-143delTCTTCTTTTAAAA 0.315895 0.4831 Uncertain 1_186919732_A->T 1 186919732 186919732 A T snp 1091.77 1/1 81 32 0 32 1.0 intronic rs4650709 PLA2G4A AU NM_024420 exon13 c.96302-56A>T 0.981629 0.997 Uncertain 1_186919993_G->A 1 186919993 186919993 G A snp 2346.77 1/1 99 67 1 66 0.99 intronic rs969357 PLA2G4A AU NM_024420 exon13 c.96374+133G>A 0.981629 0.997 Uncertain 1_186925168_A->G 1 186925168 186925168 A G snp 611.77 1/1 48 17 0 17 1.0 intronic rs5007825 PLA2G4A AU NM_024420 exon14 c.101747-65A>G 0.981629 0.997 Uncertain 1_186925194_T->C 1 186925194 186925194 T C snp 1018.77 1/1 78 31 0 31 1.0 intronic rs5007824 PLA2G4A AU NM_024420 exon14 c.101747-39T>C 0.981629 0.997 0.957712 0.9556 0.9994 Uncertain 1_186925552_T->C 1 186925552 186925552 T C snp 2942.77 1/1 99 97 0 97 1.0 intronic rs2307199 PLA2G4A AU NM_024420 exon14 c.101990+76T>C 0.981629 0.997 Uncertain 1_186925636_T->G 1 186925636 186925636 T G snp 465.77 1/1 36 12 0 12 1.0 intronic rs7547623 PLA2G4A AU NM_024420 exon14 c.101990+160T>G 0.973243 0.994 Uncertain 1_186946638_C->T 1 186946638 186946638 C T snp 637.77 0/1 99 39 18 21 0.54 intronic rs2891262 PLA2G4A AU NM_024420 exon16 c.123238-86C>T 0.183506 0.0992 Uncertain 1_186946641_C->G 1 186946641 186946641 C G snp 740.77 0/1 99 43 18 25 0.58 intronic rs2891263 PLA2G4A AU NM_024420 exon16 c.123238-83C>G 0.183506 0.0992 Uncertain 1_186946912_G->A 1 186946912 186946912 G A snp 3642.77 1/1 99 124 0 124 1.0 exonic rs2307198 PLA2G4A AU nonsynonymous SNV NM_024420 exon16 c.G1952A p.R651K 0.988219 0.998 0.985622 0.9804 0.9997 1 T 0.030 P -0.965 T 0.0 T 0.0 T ID=CM110727;DIS=Increased enzyme activity;TAG=FP;PUB=21247147 FP Pathogenic 1_187610537_A->G 1 187610537 187610537 A G snp 44.77 0/1 33 3 1 2 0.67 intergenic rs10159161 LINC01036 AU 0.342452 0.6786 0.195576 0.2955 0.7017 Uncertain 1_187610538_C->G 1 187610538 187610538 C G snp 130.03 1/1 12 4 0 4 1.0 intergenic rs10157977 LINC01036 AU 0.74381 0.8423 0.768068 0.7849 0.8481 Uncertain 1_187610698_C->A 1 187610698 187610698 C A snp 1732.77 0/1 99 137 65 72 0.53 intergenic rs10157987 LINC01036 AU 0.490415 0.6855 Uncertain 1_187610852_A->C 1 187610852 187610852 A C snp 5783.77 ./1 99 230 0 230 1.0 intergenic rs10159182 LINC01036 AU 0.488219 0.6855 0.550810 0.5063 0.7044 Uncertain 1_187610852_A->T 1 187610852 187610852 A T snp 5783.77 ./1 99 230 0 230 1.0 intergenic rs10159182 LINC01036 AU 0.255391 0.1567 0.449190 0.2737 0.1436 Uncertain 1_190234239_T->A 1 190234239 190234239 T A snp 346.77 0/1 99 42 26 16 0.38 intronic rs77612267 BRINP3 AU NM_199051 exon5 c.167038+54T>A 0.219649 0.252 Uncertain 1_192128183_G->A 1 192128183 192128183 G A snp 788.77 0/1 99 59 30 29 0.49 intronic rs4454527 RGS18 AU NM_130782 exon2 c.582-166G>A 0.647564 0.8016 Uncertain 1_192544795_A->G 1 192544795 192544795 A G snp 1062.77 1/1 81 32 1 31 0.97 upstream rs2984920 RGS1 AU 0.871206 0.8026 Uncertain 1_192545099_G->A 1 192545099 192545099 G A snp 792.77 0/1 99 68 39 29 0.43 intronic rs7535818 RGS1 AU NM_002922 exon1 c.137+40G>A 0.629792 0.6419 0.655308 0.7459 0.6394 Uncertain 1_192613378_A->G 1 192613378 192613378 A G snp 38.77 0/1 33 4 1 3 0.75 intronic rs60434338 RGS13 AU 0.0686901 0.129 Uncertain 1_192778159_A->T 1 192778159 192778159 A T snp 456.77 0/1 99 39 20 19 0.49 upstream rs12130714 RGS2 AU 0.0826677 0.0575 0.136322 0.1228 0.0475 Uncertain 1_192779227_T->A 1 192779227 192779227 T A snp 145.77 0/1 99 16 9 7 0.44 intronic rs2746073 RGS2 AU NM_002923 exon2 c.1094-68T>A 0.250799 0.4692 ID=CS056773;DIS=Hypertension, association with;TAG=DP;PUB=16003176 DP Uncertain 1_192780089_CT->- 1 192780089 192780090 CT - indel 4922.73 0/1 99 249 128 121 0.49 intronic rs34717272 RGS2 AU NM_002923 exon4 c.1909-21_1909-20delCT 0.320288 0.4732 0.283421 0.2847 0.4624 ID=COSN229951;OCCURENCE=1(NS) Uncertain 1_192780338_AA->- 1 192780338 192780339 AA - indel 189.73 0/1 99 10 3 7 0.7 intronic rs10607546 RGS2 AU NM_002923 exon4 c.2076+61_2076+62delAA 0.320687 0.4732 Uncertain 1_192780498_A->G 1 192780498 192780498 A G snp 167.77 0/1 99 25 18 7 0.28 intronic rs17647363 RGS2 AU NM_002923 exon5 c.2330-33A>G 0.0800719 0.0575 0.132793 0.1246 0.0493 Uncertain 1_193094369_TATC->- 1 193094369 193094372 TATC - indel 1840.73 0/1 99 87 42 45 0.52 intronic rs71945947 CDC73 AU,AD NM_024529 exon2 c.3017+22_3017+25delTATC 0.139177 0.4821 0.025315 0.0774 0.4823 CLINSIG=non-pathogenic;CLNDBN=Parathyroid_carcinoma;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000020882.2;CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT;CLNDSDBID=NBK3789:C0687150:608266:ORPHA143:255037004 Uncertain 1_196227526_A->G 1 196227526 196227526 A G snp 3106.77 1/1 99 110 1 109 0.99 exonic rs977157 KCNT2 AU synonymous SNV NM_001287819 exon25 c.T2937C p.D979D 0.98722 1 0.986468 0.9961 1 Uncertain 1_196242764_T->G 1 196242764 196242764 T G snp 897.77 1/1 66 26 0 26 1.0 intronic rs558895 KCNT2 AU NM_001287820 exon4 c.45265+146T>G 0.912939 0.9732 Uncertain 1_196251522_T->C 1 196251522 196251522 T C snp 732.77 1/1 54 25 0 25 1.0 intronic rs2477357 KCNT2 AU NM_198503 exon5 c.54133+36T>C 0.715855 0.9514 0.703869 0.8495 0.9617 Uncertain 1_196254970_C->T 1 196254970 196254970 C T snp 2596.77 1/1 99 79 0 79 1.0 intronic rs2477360 KCNT2 AU NM_198503 exon6 c.57535+82C>T 0.99381 1 Uncertain 1_196311513_G->A 1 196311513 196311513 G A snp 458.77 0/1 98 17 4 13 0.76 intronic rs6658788 KCNT2 AU NM_198503 exon14 c.114005+155G>A 0.434505 0.7054 Uncertain 1_196398619_T->C 1 196398619 196398619 T C snp 435.77 0/1 99 31 17 14 0.45 intronic rs1538684 KCNT2 AU NM_198503 exon20 c.201353-87T>C Uncertain 1_196398974_T->A 1 196398974 196398974 T A snp 345.77 0/1 99 15 5 10 0.67 intronic rs12121250 KCNT2 AU NM_198503 exon20 c.201534+87T>A 0.490615 0.6448 Uncertain 1_196461513_C->T 1 196461513 196461513 C T snp 297.78 1/1 24 8 0 8 1.0 intronic rs4607811 KCNT2 AU NM_198503 exon27 c.264118+42C>T 0.983227 1 0.984012 0.9945 1 Uncertain 1_196642072_C->T 1 196642072 196642072 C T snp 1546.77 1/1 99 53 0 53 1.0 intronic rs551397 CFH AR,AD,AU NM_000186 exon2 c.20860-35C>T 0.468051 0.4067 0.377721 0.3350 0.4369 Uncertain 1_196642233_G->A 1 196642233 196642233 G A snp 2183.77 1/1 99 76 0 76 1.0 exonic rs800292 CFH AR,AD,AU nonsynonymous SNV NM_000186 exon2 c.G184A p.V62I 0.468051 0.4067 0.386591 0.3210 0.4190 0.3 T 0.0 P -0.942 T 0.0 T 0.0 T CLINSIG=other;CLNDBN=Age-related_macular_degeneration_4;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000018017.1;CLNDSDB=MedGen:OMIM;CLNDSDBID=C1853147:610698 ID=CM062505;DIS=Membranoproliferative glomerulonephritis, association;TAG=DFP;PUB=16299065 DFP Pathogenic 1_196642969_-->TT 1 196642969 196642969 - TT indel 2181.73 1/1 99 67 0 67 1.0 intronic rs35507625 CFH AR,AD,AU NM_000186 exon3 c.21739-17insTT 0.305711 0.4821 0.2568 0.4612 Uncertain 1_196654324_A->C 1 196654324 196654324 A C snp 6602.77 1/1 99 250 1 249 1.0 exonic rs1061147 CFH AR,AD,AU synonymous SNV NM_000186 exon7 c.A921C p.A307A 0.713059 0.9504 0.608104 0.6666 0.9510 ID=CM057396;DIS=Macular degeneration, age-related, association with;TAG=DP;PUB=15870199 DP Uncertain 1_196658497_G->T 1 196658497 196658497 G T snp 424.77 1/1 33 16 0 16 1.0 intronic rs482934 CFH AR,AD,AU NM_000186 exon8 c.37302-52G>T 0.78155 0.9514 Uncertain 1_196658905_G->A 1 196658905 196658905 G A snp 222.84 1/1 18 7 0 7 1.0 intronic rs12029785 CFH AR,AD,AU NM_000186 exon8 c.37497+161G>A 0.733427 0.9514 Uncertain 1_196659237_C->T 1 196659237 196659237 C T snp 3265.77 1/1 99 123 0 123 1.0 exonic rs1061170 CFH AR,AD,AU nonsynonymous SNV NM_000186 exon9 c.C1204T p.H402Y 0.733427 0.9514 0.624327 0.6721 0.9506 1 T 0.0 P -1.007 T 0.0 T 0.001 T CLINSIG=other|pathogenic;CLNDBN=Age-related_macular_degeneration_4|Basal_laminar_drusen;CLNREVSTAT=no_assertion_criteria_provided|no_assertion_criteria_provided;CLNACC=RCV000018015.2|RCV000018016.27;CLNDSDB=MedGen:OMIM|MedGen:OMIM:Orphanet:SNOMED_CT;CLNDSDBID=C1853147:610698|C0730295:126700:ORPHA75376:312926005 ID=CM051020;DIS=Macular degeneration, age-related, association with;TAG=DFP;PUB=15761120 DFP Pathogenic 1_196682947_G->A 1 196682947 196682947 G A snp 4387.77 1/1 99 167 0 167 1.0 exonic rs2274700 CFH AR,AD,AU synonymous SNV NM_000186 exon10 c.G1419A p.A473A 0.479034 0.4246 0.426188 0.4431 0.4359 CLINSIG=other;CLNDBN=Age-related_macular_degeneration_4;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000018023.1;CLNDSDB=MedGen:OMIM;CLNDSDBID=C1853147:610698 ID=CM062504;DIS=Membranoproliferative glomerulonephritis, association;TAG=DP;PUB=16299065 DP Uncertain 1_196684625_G->T 1 196684625 196684625 G T snp 610.77 1/1 45 19 0 19 1.0 intronic rs203674 CFH AR,AD,AU NM_000186 exon11 c.63475-97G>T 0.754593 0.9514 Uncertain 1_196705926_C->A 1 196705926 196705926 C A snp 205.84 1/1 18 7 0 7 1.0 intronic rs375046 CFH AR,AD,AU NM_000186 exon16 c.84706-27C>A 0.77476 0.9405 0.6753 0.9545 Uncertain 1_196712577_T->C 1 196712577 196712577 T C snp 1475.77 0/1 99 246 173 73 0.3 splicing rs513699 CFH AR,AD,AU NM_000186 exon20 c.91334-4T>C 0.2585 0.3530 Pathogenic 1_196712586_C->T 1 196712586 196712586 C T snp 1945.77 0/1 99 250 164 86 0.34 exonic rs61822181 CFH AR,AD,AU synonymous SNV NM_000186 exon20 c.C3138T p.T1046T 0.2657 0.3597 Uncertain 1_196757258_C->T 1 196757258 196757258 C T snp 229.84 1/1 18 8 0 8 1.0 intronic rs400642 CFHR3 AR,AD NM_021023 exon4 c.13329-87C>T 0.646765 0.9484 Uncertain 1_196757392_C->T 1 196757392 196757392 C T snp 962.77 1/1 75 41 0 41 1.0 exonic rs400344 CFHR3 AR,AD synonymous SNV NM_021023 exon4 c.C477T p.S159S 0.649361 0.9484 0.4983 0.9372 Uncertain 1_196794519_C->T 1 196794519 196794519 C T snp 309.78 1/1 24 10 0 10 1.0 intronic rs442759 CFHR1 AR,AD NM_002113 exon2 c.5632-87C>T 0.472444 0.5427 Uncertain 1_196794909_G->C 1 196794909 196794909 G C snp 1968.77 1/1 99 60 0 60 1.0 intronic rs409549 CFHR1 AR,AD NM_002113 exon2 c.5827+108G>C 0.472644 0.5427 Uncertain 1_196796184_G->A 1 196796184 196796184 G A snp 2171.77 1/1 99 79 0 79 1.0 intronic rs399507 CFHR1 AR,AD NM_002113 exon3 c.7161+49G>A 0.473442 0.5446 0.459450 0.4460 0.5453 Uncertain 1_196796240_T->A 1 196796240 196796240 T A snp 1003.77 1/1 72 33 0 33 1.0 intronic rs438781 CFHR1 AR,AD NM_002113 exon3 c.7161+105T>A 0.497005 0.5446 Uncertain 1_196797044_T->C 1 196797044 196797044 T C snp 56.74 1/1 6 3 0 3 1.0 intronic rs678400 CFHR1 AR,AD NM_002113 exon4 c.8225-155T>C 0.444089 0.5238 Uncertain 1_196797123_C->T 1 196797123 196797123 C T snp 2212.77 1/1 99 85 0 85 1.0 intronic rs677961 CFHR1 AR,AD NM_002113 exon4 c.8225-76C>T 0.473842 0.5446 Uncertain 1_196797238_C->T 1 196797238 196797238 C T snp 2226.77 1/1 99 92 0 92 1.0 exonic rs425757 CFHR1 AR,AD nonsynonymous SNV NM_002113 exon4 c.C469T p.H157Y 0.305860 0.2607 0.3616 1 T 0.0 P -1.048 T 0.142 T 0.147 T Pathogenic 1_196797244_C->G 1 196797244 196797244 C G snp 2049.77 1/1 99 83 0 83 1.0 exonic rs113811987 CFHR1 AR,AD nonsynonymous SNV NM_002113 exon4 c.C475G p.L159V 0.288929 0.2102 0.3003 1 T 0.000 P -1.039 T 0.0 T 0.0 T Pathogenic 1_196797292_G->C 1 196797292 196797292 G C snp 644.77 1/1 54 25 0 25 1.0 exonic rs388862 CFHR1 AR,AD nonsynonymous SNV NM_002113 exon4 c.G523C p.E175Q 0.0799 0.0775 0.61 T 0.0 P -1.009 T 0.121 T 0.064 T Pathogenic 1_196801042_G->T 1 196801042 196801042 G T snp 7122.77 1/1 99 250 0 250 1.0 exonic rs4230 CFHR1 AR,AD synonymous SNV NM_002113 exon6 c.G906T p.R302R 0.507388 0.5437 0.481808 0.4557 0.5462 Uncertain 1_196801078_A->T 1 196801078 196801078 A T snp 6809.77 1/1 99 247 0 247 1.0 exonic rs414628 CFHR1 AR,AD synonymous SNV NM_002113 exon6 c.A942T p.R314R 0.423722 0.5228 0.397034 0.4303 0.5255 Uncertain 1_196801190_C->A 1 196801190 196801190 C A snp 1729.77 1/1 99 53 0 53 1.0 UTR3 rs390679 CFHR1 AR,AD 0.423522 0.5228 Uncertain 1_196874356_G->T 1 196874356 196874356 G T snp 5226.77 1/1 99 197 0 197 1.0 exonic rs10801578 CFHR4 AU nonsynonymous SNV NM_001201550 exon3 c.G375T p.E125D 0.994409 1 0.9980 1 0.44 T 0.0 P -1.011 T 0.0 T 0.0 T Pathogenic 1_196876458_A->G 1 196876458 196876458 A G snp 1156.77 1/1 87 37 0 37 1.0 exonic rs7417769 CFHR4 AU nonsynonymous SNV NM_001201550 exon5 c.A629G p.N210S 0.589058 0.8304 0.6852 0.8140 0.89 T 0.0 P -0.982 T 0.0 T 0.001 T Pathogenic 1_196920148_C->T 1 196920148 196920148 C T snp 2460.77 1/1 99 93 0 93 1.0 exonic rs4085749 CFHR2 AU synonymous SNV NM_005666 exon3 c.C420T p.C140C 0.32488 0.7024 0.170306 0.2962 0.7217 Uncertain 1_196920299_T->A 1 196920299 196920299 T A snp 227.84 1/1 18 7 0 7 1.0 intronic rs3790414 CFHR2 AU NM_005666 exon3 c.7148+141T>A 0.365815 0.7024 Uncertain 1_196928241_C->A 1 196928241 196928241 C A snp 341.77 0/1 99 22 9 13 0.59 UTR3 CFHR2 AU Uncertain 1_196967458_G->T 1 196967458 196967458 G T snp 931.77 1/1 66 34 0 34 1.0 intronic rs1332664 CFHR5 AD NM_030787 exon7 c.20640+24G>T 0.30611 0.6667 0.116059 0.2483 0.6979 Uncertain 1_197008597_A->C 1 197008597 197008597 A C snp 1491.77 1/1 99 57 0 57 1.0 intronic rs5990 F13B AR NM_001994 exon1 c.34+56A>C 0.52496 0.8194 0.391447 Uncertain 1_197009798_A->G 1 197009798 197009798 A G snp 1700.77 1/1 99 66 0 66 1.0 exonic rs5998 F13B AR synonymous SNV NM_001994 exon11 c.T1806C p.N602N 0.52496 0.8194 0.388607 0.5270 0.8177 Uncertain 1_197030201_T->C 1 197030201 197030201 T C snp 2126.77 1/1 99 61 1 60 0.98 exonic rs5997 F13B AR synonymous SNV NM_001994 exon4 c.A456G p.T152T 0.783746 1 0.756152 0.8805 0.9996 Uncertain 1_197030238_T->- 1 197030238 197030238 T - indel 179.8 1/1 18 10 0 10 1.0 intronic rs17549277 F13B AR NM_001994 exon9 c.21698+33delT 0.53115 0.8185 0.407062 0.5276 0.8031 Uncertain 1_197030829_A->T 1 197030829 197030829 A T snp 212.84 1/1 18 7 0 7 1.0 intronic rs5993 F13B AR NM_001994 exon10 c.22406-84A>T 0.298722 0.6696 Uncertain 1_197031021_C->T 1 197031021 197031021 C T snp 4354.77 1/1 99 166 0 166 1.0 exonic rs6003 F13B AR nonsynonymous SNV NM_001994 exon3 c.G344A p.R115H 0.761781 0.9831 0.738505 0.8720 0.9837 0.22 T 0.0 P -1.024 T 0.0 T 0.002 T CLINSIG=other;CLNDBN=Venous_thrombosis\x2c_susceptibility_to;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000017984.1;CLNDSDB=MedGen;CLNDSDBID=C1854471 ID=CM034655;DIS=Myocardial infarction, risk, association with;TAG=DP;PUB=12941053 DP Pathogenic 1_197053373_G->A 1 197053373 197053373 G A snp 1276.77 1/1 96 42 0 42 1.0 UTR3 rs12677 ASPM AR 0.782348 1 Uncertain 1_197055925_T->C 1 197055925 197055925 T C snp 978.77 1/1 69 39 0 39 1.0 intronic rs10754213 ASPM AR NM_018136 exon2 c.2479-7T>C 0.782748 1 0.755118 0.8786 0.9997 Uncertain 1_197059878_G->A 1 197059878 197059878 G A snp 1038.77 1/1 78 26 0 26 1.0 intronic rs4915315 ASPM AR NM_018136 exon6 c.6526-101G>A 0.76897 0.9831 Uncertain 1_197059892_A->G 1 197059892 197059892 A G snp 1497.77 1/1 99 38 0 38 1.0 intronic rs10754214 ASPM AR NM_018136 exon6 c.6526-87A>G 0.757188 0.9831 Uncertain 1_197059928_A->G 1 197059928 197059928 A G snp 2656.77 1/1 99 90 0 90 1.0 intronic rs4915316 ASPM AR NM_018136 exon6 c.6526-51A>G 0.75639 0.9831 0.745290 Uncertain 1_197070776_C->T 1 197070776 197070776 C T snp 4597.77 1/1 99 161 0 161 1.0 exonic rs10922162 ASPM AR synonymous SNV NM_018136 exon18 c.G7605A p.V2535V 0.294928 0.6696 0.114864 0.2396 0.7019 CLINSIG=non-pathogenic|non-pathogenic|non-pathogenic;CLNDBN=Primary_autosomal_recessive_microcephaly_5|not_provided|not_specified;CLNREVSTAT=no_assertion_criteria_provided|criteria_provided\x2c_single_submitter|criteria_provided\x2c_single_submitter;CLNACC=RCV000020793.1|RCV000123702.1|RCV000145189.1;CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet|MedGen|MedGen;CLNDSDBID=NBK9587:C1837501:608716:ORPHA2512|CN221809|CN169374 Uncertain 1_197070815_T->C 1 197070815 197070815 T C snp 5066.77 1/1 99 177 0 177 1.0 exonic rs1412640 ASPM AR synonymous SNV NM_018136 exon18 c.A7566G p.L2522L 0.815895 1 0.786923 0.8876 0.9995 CLINSIG=non-pathogenic;CLNDBN=Primary_autosomal_recessive_microcephaly_5;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000020792.1;CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet;CLNDSDBID=NBK9587:C1837501:608716:ORPHA2512 Uncertain 1_197070901_A->G 1 197070901 197070901 A G snp 5283.77 1/1 99 188 0 188 1.0 exonic rs964201 ASPM AR nonsynonymous SNV NM_018136 exon18 c.T7480C p.Y2494H 0.997404 1 0.995693 0.9956 1 1 T 1.0 P -0.934 T 0.001 T 0.01 T CLINSIG=non-pathogenic|non-pathogenic|non-pathogenic;CLNDBN=Primary_autosomal_recessive_microcephaly_5|not_provided|not_specified;CLNREVSTAT=no_assertion_criteria_provided|criteria_provided\x2c_single_submitter|criteria_provided\x2c_multiple_submitters\x2c_no_conflicts;CLNACC=RCV000020789.1|RCV000123700.1|RCV000145183.3;CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet|MedGen|MedGen;CLNDSDBID=NBK9587:C1837501:608716:ORPHA2512|CN221809|CN169374 Pathogenic 1_197091537_A->T 1 197091537 197091537 A T snp 5044.77 1/1 99 174 0 174 1.0 exonic rs4915337 ASPM AR synonymous SNV NM_018136 exon14 c.T3579A p.S1193S 0.782548 1 0.754729 0.8779 0.9997 CLINSIG=non-pathogenic|probable-non-pathogenic;CLNDBN=Primary_autosomal_recessive_microcephaly_5|not_specified;CLNREVSTAT=no_assertion_criteria_provided|no_assertion_criteria_provided;CLNACC=RCV000020768.1|RCV000145113.1;CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet|MedGen;CLNDSDBID=NBK9587:C1837501:608716:ORPHA2512|CN169374 Uncertain 1_197098143_G->C 1 197098143 197098143 G C snp 125.03 1/1 12 4 0 4 1.0 intronic rs6695300 ASPM AR NM_018136 exon20 c.44863-173G>C 0.873003 1 Uncertain 1_197102745_A->G 1 197102745 197102745 A G snp 1448.77 1/1 71 49 1 48 0.98 intronic rs4915344 ASPM AR NM_018136 exon23 c.49272+20A>G 0.29972 0.6706 0.114042 0.2416 0.7026 CLINSIG=non-pathogenic;CLNDBN=not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000123694.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Uncertain 1_197102839_A->C 1 197102839 197102839 A C snp 90.28 1/1 9 3 0 3 1.0 intronic rs4915345 ASPM AR NM_018136 exon23 c.49272+114A>C 0.815895 1 Uncertain 1_197109042_C->T 1 197109042 197109042 C T snp 563.77 1/1 42 17 0 17 1.0 intronic rs1332663 ASPM AR NM_018136 exon25 c.55548+41C>T 0.782548 1 0.755504 0.8779 0.9996 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000145090.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 1_197112533_G->A 1 197112533 197112533 G A snp 5256.77 1/1 99 181 0 181 1.0 exonic rs6677082 ASPM AR synonymous SNV NM_018136 exon3 c.C849T p.S283S 0.755591 0.9831 0.730775 0.8698 0.9834 Uncertain 1_197113073_G->A 1 197113073 197113073 G A snp 536.77 1/1 39 20 0 20 1.0 intronic rs1571964 ASPM AR NM_018136 exon27 c.59633-13G>A 0.755591 0.9831 0.730236 0.8704 0.9834 Uncertain 1_197128726_G->A 1 197128726 197128726 G A snp 6353.77 1/1 99 224 0 224 1.0 exonic rs12128631 ZBTB41 AU synonymous SNV NM_194314 exon10 c.C2493T p.L831L 0.297724 0.6716 0.115101 0.2392 0.7040 Uncertain 1_197141243_A->C 1 197141243 197141243 A C snp 834.77 1/1 63 32 0 32 1.0 intronic rs6428389 ZBTB41 AU NM_194314 exon2 c.12801-46A>C 0.692093 0.8879 0.744876 0.8111 0.9794 Uncertain 1_197141253_A->C 1 197141253 197141253 A C snp 963.77 1/1 69 38 0 38 1.0 intronic rs10429910 ZBTB41 AU NM_194314 exon2 c.12801-36A>C 0.370008 0.6696 0.137395 0.2905 0.7221 Uncertain 1_197144383_T->G 1 197144383 197144383 T G snp 176.9 1/1 15 5 0 5 1.0 intronic rs10801593 ZBTB41 AU NM_194314 exon3 c.15757+138T>G 0.7502 0.9831 Uncertain 1_197297540_A->T 1 197297540 197297540 A T snp 739.77 1/1 54 21 0 21 1.0 intronic rs12042179 CRB1 AU,AD,AR NM_201253 exon2 c.60009-11A>T 0.403155 0.7599 0.286572 0.4457 0.7926 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter|criteria_provided\x2c_single_submitter;CLNACC=RCV000082823.3|RCV000124604.1;CLNDSDB=MedGen|MedGen;CLNDSDBID=CN169374|CN221809 Uncertain 1_197316435_T->C 1 197316435 197316435 T C snp 1284.77 0/1 99 95 47 48 0.51 intronic rs1337167 CRB1 AU,AD,AR NM_201253 exon4 c.78927-34T>C 0.839257 0.7649 0.830847 0.8184 0.7925 Uncertain 1_197325908_T->G 1 197325908 197325908 T G snp 1942.77 0/1 99 169 87 82 0.49 intronic rs2786098 CRB1 AU,AD,AR NM_201253 exon5 c.88418-52T>G 0.842652 0.7649 Uncertain 1_197390368_A->G 1 197390368 197390368 A G snp 4935.77 1/1 99 157 0 157 1.0 exonic rs3902057 CRB1 AU,AD,AR synonymous SNV NM_201253 exon6 c.A1410G p.L470L 0.919728 1 0.921036 0.9781 0.9995 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000153108.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 1_197398086_A->G 1 197398086 197398086 A G snp 1372.77 0/1 99 115 53 62 0.54 intronic rs7534863 CRB1 AU,AD,AR NM_001257965 exon10 c.100415-17A>G 0.358427 0.3363 0.4236 0.3284 Uncertain 1_197404954_T->C 1 197404954 197404954 T C snp 129.03 1/1 12 4 0 4 1.0 intronic rs927511 CRB1 AU,AD,AR NM_201253 exon9 c.167200+212T>C 0.919728 1 Uncertain 1_197407942_A->G 1 197407942 197407942 A G snp 553.77 1/1 42 15 0 15 1.0 intronic rs980371 CRB1 AU,AD,AR NM_201253 exon10 c.170263+137A>G 0.919728 1 Uncertain 1_197446702_G->T 1 197446702 197446702 G T snp 2159.77 0/1 99 168 82 86 0.51 intronic rs1135810 CRB1 AU,AD,AR NM_201253 exon12 c.209251-91G>T 0.332069 0.3403 0.4800 0.4376 Uncertain 1_197482167_C->G 1 197482167 197482167 C G snp 604.77 1/1 45 19 0 19 1.0 intronic rs2013617 DENND1B AU NM_001195215 exon3 c.2494+84C>G 0.945487 1 Uncertain 1_197510025_G->T 1 197510025 197510025 G T snp 488.77 1/1 36 16 0 16 1.0 intronic rs3902061 DENND1B AU NM_001195215 exon5 c.30499-63G>T 0.949681 0.9911 0.951358 Uncertain 1_197510299_G->A 1 197510299 197510299 G A snp 182.9 1/1 15 5 0 5 1.0 intronic rs3850628 DENND1B AU NM_001195215 exon5 c.30556+154G>A 0.999201 1 Uncertain 1_197515777_A->T 1 197515777 197515777 A T snp 393.77 0/1 99 37 21 16 0.43 intronic rs4316386 DENND1B AU NM_001195215 exon7 c.36273-85A>T 0.807708 0.872 Uncertain 1_197576307_-->T 1 197576307 197576307 - T indel 930.73 1/1 69 23 0 23 1.0 splicing rs11411505 DENND1B AU NM_001195215 exon11 c.96715+3insT 0.978035 1 0.978904 0.9919 0.9994 Pathogenic 1_197741951_C->A 1 197741951 197741951 C A snp 1858.77 1/1 99 65 0 65 1.0 intronic rs2477067 DENND1B AU NM_001195216 exon2 c.37220-46C>A 0.997204 1 0.994744 0.9842 0.9850 Uncertain 1_197742171_C->T 1 197742171 197742171 C T snp 205.77 0/1 99 23 15 8 0.35 intronic rs2488396 DENND1B AU NM_001195216 exon2 c.37285+109C>T 0.876597 0.8829 0.8454 0.8753 Uncertain 1_197744098_G->C 1 197744098 197744098 G C snp 46.77 0/1 31 3 1 2 0.67 intronic rs117405403 DENND1B AU NM_001195216 exon3 c.39491-170G>C 0.584065 0.6538 Uncertain 1_197876533_C->A 1 197876533 197876533 C A snp 40.74 1/1 6 2 0 2 1.0 downstream rs1546244 C1orf53 AU 0.973442 1 Uncertain 1_197890422_C->G 1 197890422 197890422 C G snp 2603.77 1/1 99 87 0 87 1.0 intronic rs12122995 LHX9 AU NM_020204 exon3 c.3480-11C>G 0.929912 1 0.918268 0.9625 0.9995 Uncertain 1_197896728_T->C 1 197896728 197896728 T C snp 769.77 0/1 99 65 36 29 0.45 exonic rs12046958 LHX9 AU synonymous SNV NM_020204 exon4 c.T741C p.N247N 0.267971 0.4067 0.187913 0.2363 0.4439 Uncertain 1_198214462_G->A 1 198214462 198214462 G A snp 1941.77 0/1 99 229 142 87 0.38 intronic rs12046935 NEK7 AU NM_133494 exon3 c.20459-7707G>A 0.249601 0.5595 Uncertain 1_198288709_A->G 1 198288709 198288709 A G snp 3030.77 1/1 99 96 0 96 1.0 UTR3 rs6679100 NEK7 AU 0.694089 0.8988 Uncertain 1_198608242_C->T 1 198608242 198608242 C T snp 247.77 0/1 99 34 23 11 0.32 UTR5 PTPRC AR,AU 0.0219649 0.0962 Uncertain 1_198671653_A->G 1 198671653 198671653 A G snp 2982.77 0/1 99 236 113 123 0.52 exonic PTPRC AR,AU nonsynonymous SNV NM_002838 exon6 c.A577G p.T193A 0.0563099 0.1687 0.006689 0.0393 0.2057 0.16 T 0.003 P -1.092 T 0.008 T 0.004 T ID=CS034627;DIS=Defective splicing;TAG=DFP;PUB=12716971 DFP Pathogenic 1_198681999_C->A 1 198681999 198681999 C A snp 263.77 0/1 99 17 7 10 0.59 intronic PTPRC AR,AU NM_002838 exon12 c.73683-82C>A 0.0091853 0.0456 ID=COSN163381;OCCURENCE=1(breast) Uncertain 1_198687159_T->C 1 198687159 198687159 T C snp 584.77 0/1 99 51 28 23 0.45 intronic PTPRC AR,AU NM_002838 exon14 c.78824-63T>C 0.067492 0.2014 Uncertain 1_198701289_T->C 1 198701289 198701289 T C snp 379.77 1/1 30 10 0 10 1.0 intronic rs1932433 PTPRC AR,AU NM_002838 exon19 c.93030-139T>C 0.535543 0.3264 Uncertain 1_198703306_C->T 1 198703306 198703306 C T snp 152.77 0/1 99 9 4 5 0.56 intronic rs6683595 PTPRC AR,AU NM_002838 exon21 c.94926-18C>T 0.278754 0.2351 0.221222 0.1938 0.2614 Uncertain 1_198704294_C->T 1 198704294 198704294 C T snp 90.77 0/1 99 32 25 7 0.22 exonic rs7540378 PTPRC AR,AU synonymous SNV NM_002838 exon23 c.C2316T p.G772G 0.226238 0.2361 0.163873 0.1683 0.2655 Uncertain 1_198721192_T->C 1 198721192 198721192 T C snp 83.77 0/1 30 4 1 3 0.75 intronic rs12403075 PTPRC AR,AU NM_002838 exon30 c.112979-185T>C 0.222843 0.2371 Uncertain 1_199998304_G->A 1 199998304 199998304 G A snp 2876.77 0/1 99 207 92 115 0.56 intronic rs60535681 NR5A2 AU NM_003822 exon1 c.64+1265G>A 0.134784 0.0357 0.0479 0.0391 Uncertain 1_200013123_C->A 1 200013123 200013123 C A snp 641.77 0/1 99 43 18 25 0.58 intronic rs2737636 NR5A2 AU NM_003822 exon2 c.16045+103C>A 0.0872604 0.0347 Uncertain 1_200014762_A->G 1 200014762 200014762 A G snp 768.77 0/1 99 52 23 29 0.56 intronic rs2817008 NR5A2 AU NM_003822 exon3 c.17737+50A>G 0.36242 0.0635 0.464698 0.3216 0.0681 Uncertain 1_200014790_A->G 1 200014790 200014790 A G snp 521.77 0/1 99 29 10 19 0.66 intronic rs2817009 NR5A2 AU NM_003822 exon3 c.17737+78A>G 0.228035 0.0397 Uncertain 1_200017586_C->G 1 200017586 200017586 C G snp 2164.77 0/1 99 203 110 93 0.46 exonic rs2821368 NR5A2 AU synonymous SNV NM_001276464 exon4 c.C534G p.P178P 0.230232 0.0397 0.280332 0.1886 0.0379 1.0 P -1.017 T Likely benign 1_200080463_C->T 1 200080463 200080463 C T snp 208.77 0/1 99 29 18 11 0.38 intronic rs3828110 NR5A2 AU NM_003822 exon5 c.83474+14C>T 0.450679 0.2937 0.3150 0.2131 Uncertain 1_200080464_C->A 1 200080464 200080464 C A snp 30.77 0/1 59 30 22 8 0.27 intronic rs202167972 NR5A2 AU NM_003822 exon5 c.83474+15C>A 0.1455 0.1029 Uncertain 1_200089872_C->T 1 200089872 200089872 C T snp 1087.77 0/1 99 66 27 39 0.59 intronic rs10494808 NR5A2 AU NM_003822 exon6 c.92960-63C>T 0.36861 0.2927 Uncertain 1_200090050_G->A 1 200090050 200090050 G A snp 2514.77 0/1 99 180 78 102 0.57 exonic rs750928806 NR5A2 AU nonsynonymous SNV NM_001276464 exon6 c.G1129A p.V377I 1.651e-05 0.0001 1 D 0.672 D 0.597 T 0.061 P ID=COSM1337669;OCCURENCE=1(large_intestine) Pathogenic 1_200090120_G->A 1 200090120 200090120 G A snp 1072.77 0/1 99 67 27 40 0.6 intronic rs3762398 NR5A2 AU NM_003822 exon6 c.93108+37G>A 0.257788 0.2321 0.251115 0.2763 0.2168 Uncertain 1_200090219_C->T 1 200090219 200090219 C T snp 43.77 0/1 70 4 2 2 0.5 intronic rs3762397 NR5A2 AU NM_003822 exon6 c.93108+136C>T 0.36901 0.2927 Uncertain 1_200143281_C->T 1 200143281 200143281 C T snp 1070.77 0/1 99 98 52 46 0.47 exonic rs1060060 NR5A2 AU synonymous SNV NM_001276464 exon7 c.C1353T p.N451N 0.354433 0.5179 0.309165 0.3212 0.5260 Uncertain 1_200182654_T->C 1 200182654 200182654 T C snp 879.77 1/1 63 32 0 32 1.0 intergenic rs6427805 NR5A2 AU 0.930112 0.9415 0.934476 0.9079 0.9618 Uncertain 1_200182664_C->T 1 200182664 200182664 C T snp 988.77 1/1 72 35 0 35 1.0 intergenic rs6427806 NR5A2 AU 0.664537 0.8452 0.537980 0.6131 0.9124 Uncertain 1_200182704_GAGGACGCCGGAGAGGAGGCCGGA->- 1 200182704 200182727 GAGGACGCCGGAGAGGAGGCCGGA - indel 5011.73 1/1 41 44 1 43 0.98 intergenic rs141962771 NR5A2 AU 0.132588 0.0595 0.345364 0.3989 0.3799 Uncertain 1_200182710_GCCGGAGAGGAG->- 1 200182710 200182721 GCCGGAGAGGAG - indel 4449.73 1/1 99 44 0 44 1.0 intergenic rs565394962 NR5A2 AU 0.0385383 0.0724 0.2618 0.5196 Uncertain 1_200182834_A->G 1 200182834 200182834 A G snp 4690.77 1/1 99 158 0 158 1.0 intergenic rs12028402 NR5A2 AU 0.63778 0.8462 0.471782 0.5042 0.8829 Uncertain 1_200183398_C->A 1 200183398 200183398 C A snp 2214.77 1/1 99 83 0 83 1.0 intergenic rs10919847 NR5A2 AU 0.663938 0.8452 0.504767 0.5119 0.8820 Uncertain 1_200183460_C->T 1 200183460 200183460 C T snp 1382.77 1/1 99 53 0 53 1.0 intergenic rs10919848 NR5A2 AU 0.524561 0.6667 0.377364 0.4371 0.7160 Uncertain 1_200311868_C->G 1 200311868 200311868 C G snp 1060.77 1/1 75 43 0 43 1.0 ncRNA_exonic rs2790109 LINC00862 AU 0.744209 0.7044 0.7192 0.6776 0 D 0.0 P -1.003 T Uncertain 1_200311910_T->A 1 200311910 200311910 T A snp 433.77 0/1 99 34 13 21 0.62 ncRNA_exonic rs2225986 LINC00862 AU 0.201278 0.0804 0.3308 0.0781 Uncertain 1_200342046_A->C 1 200342046 200342046 A C snp 1220.77 0/1 99 91 38 53 0.58 ncRNA_intronic rs6677545 LINC00862 AU 0.272564 0.1647 Uncertain 1_200523514_A->G 1 200523514 200523514 A G snp 201.84 1/1 18 6 0 6 1.0 intronic rs7548174 KIF14 AR NM_014875 exon2 c.1080-81A>G 0.586861 0.6895 Uncertain 1_200534248_C->T 1 200534248 200534248 C T snp 4959.77 1/1 99 192 2 190 0.99 exonic rs7543730 KIF14 AR synonymous SNV NM_014875 exon25 c.G4020A p.E1340E 0.563498 0.6895 0.535907 0.5717 0.6811 Uncertain 1_200538885_C->T 1 200538885 200538885 C T snp 698.77 1/1 51 25 0 25 1.0 intronic rs10800711 KIF14 AR NM_014875 exon8 c.16523-153C>T 0.766573 0.6895 Uncertain 1_200549590_T->C 1 200549590 200549590 T C snp 387.77 1/1 30 14 0 14 1.0 intronic rs10753877 KIF14 AR NM_014875 exon10 c.26996+79T>C 0.557109 0.6885 Uncertain 1_200558363_T->C 1 200558363 200558363 T C snp 1727.77 1/1 99 68 1 67 0.99 exonic rs6665951 KIF14 AR synonymous SNV NM_014875 exon18 c.A3096G p.E1032E 0.766573 0.6875 0.806675 0.7515 0.6804 Uncertain 1_200569392_C->A 1 200569392 200569392 C A snp 5595.77 1/1 99 185 0 185 1.0 intronic rs2809357 KIF14 AR NM_014875 exon19 c.46968-91C>A 0.91234 0.871 Uncertain 1_200578093_G->A 1 200578093 200578093 G A snp 749.77 1/1 54 29 0 29 1.0 intronic rs2794409 KIF14 AR NM_014875 exon26 c.55541+37G>A 0.912141 0.871 0.948027 0.9305 0.8412 Uncertain 1_200594005_C->T 1 200594005 200594005 C T snp 2493.77 1/1 99 80 0 80 1.0 intergenic rs2808257 KIF14 AR 0.375399 0.497 0.235737 0.2671 0.4889 Uncertain 1_200594240_G->A 1 200594240 200594240 G A snp 1705.77 1/1 99 54 0 54 1.0 intergenic rs2809350 KIF14 AR 0.976038 1 Uncertain 1_200618238_T->C 1 200618238 200618238 T C snp 1313.77 1/1 93 57 0 57 1.0 exonic rs6665604 DDX59 AR synonymous SNV NM_001031725 exon6 c.A1431G p.S477S 0.957468 1 0.949562 0.9654 1 1.000 P -1.062 T Likely benign 1_200619478_C->A 1 200619478 200619478 C A snp 478.77 1/1 36 13 0 13 1.0 intronic rs2808230 DDX59 AR NM_001031725 exon4 c.6171-74C>A 0.985024 1 Uncertain 1_200619530_T->C 1 200619530 200619530 T C snp 1763.77 1/1 99 58 0 58 1.0 intronic rs2809365 DDX59 AR NM_001031725 exon4 c.6171-22T>C 0.975639 1 0.977382 0.9936 1 Uncertain 1_200632960_T->C 1 200632960 200632960 T C snp 1826.77 1/1 99 60 0 60 1.0 intronic rs57155598 DDX59 AR NM_001031725 exon6 c.19665-86T>C 0.21845 0.4365 Uncertain 1_200632966_A->G 1 200632966 200632966 A G snp 1989.77 1/1 99 64 1 63 0.98 intronic rs60572979 DDX59 AR NM_001031725 exon6 c.19665-80A>G 0.21845 0.4365 Uncertain 1_200635550_T->C 1 200635550 200635550 T C snp 5560.77 1/1 99 189 0 189 1.0 exonic rs3795634 DDX59 AR nonsynonymous SNV NM_001031725 exon2 c.A319G p.I107V 0.21845 0.4365 0.090266 0.1291 0.4080 1 T 0.001 P -0.942 T 0.0 T 0.001 T Pathogenic 1_200635560_T->C 1 200635560 200635560 T C snp 5317.77 1/1 99 183 0 183 1.0 exonic rs3795633 DDX59 AR synonymous SNV NM_001031725 exon2 c.A309G p.P103P 0.21845 0.4365 0.090266 0.1291 0.4086 Uncertain 1_200776641_C->T 1 200776641 200776641 C T snp 2930.77 0/1 99 240 119 121 0.5 exonic rs7552353 CAMSAP2 AU synonymous SNV NM_001297707 exon3 c.C537T p.D179D 0.251398 0.3552 0.123174 0.1736 0.3557 Uncertain 1_200802045_C->T 1 200802045 200802045 C T snp 203.77 0/1 99 24 16 8 0.33 intronic rs78225055 CAMSAP2 AU NM_203459 exon6 c.93018+72C>T 0.262979 0.3532 Uncertain 1_200816520_TG->- 1 200816520 200816521 TG - indel 312.27 0/1 1 33 3 30 0.91 intronic rs71138304 CAMSAP2 AU NM_203459 exon9 c.107465+100_107465+101delTG Uncertain 1_200816523_G->T 1 200816523 200816523 G T snp 152.77 0/1 99 30 21 9 0.3 intronic rs35428855 CAMSAP2 AU NM_203459 exon9 c.107465+103G>T Uncertain 1_200816658_T->C 1 200816658 200816658 T C snp 176.9 1/1 15 5 0 5 1.0 intronic rs2131834 CAMSAP2 AU NM_203459 exon10 c.107812-109T>C 1 1 Uncertain 1_200821924_C->T 1 200821924 200821924 C T snp 383.77 0/1 99 30 15 15 0.5 intronic rs2275194 CAMSAP2 AU NM_203459 exon12 c.112850+119C>T 0.157748 0.1815 Uncertain 1_200824108_C->T 1 200824108 200824108 C T snp 478.77 0/1 99 48 28 20 0.42 intronic rs2275193 CAMSAP2 AU NM_203459 exon14 c.115062+91C>T 0.157947 0.1815 Uncertain 1_200826395_A->T 1 200826395 200826395 A T snp 261.77 0/1 99 21 12 9 0.43 intronic rs2292095 CAMSAP2 AU NM_203459 exon16 c.117478-38A>T 0.153754 0.1815 0.131595 0.1289 0.1982 Uncertain 1_200826769_A->G 1 200826769 200826769 A G snp 198.77 0/1 60 9 2 7 0.78 intronic rs2292096 CAMSAP2 AU NM_203459 exon17 c.117926-112A>G 0.157947 0.1815 Uncertain 1_200843307_-->CCCG 1 200843307 200843307 - CCCG indel 1675.73 0/1 99 56 22 34 0.61 downstream rs3831962 GPR25 AU 0.251198 0.372 Uncertain 1_200880978_C->T 1 200880978 200880978 C T snp 629.77 1/1 48 22 0 22 1.0 exonic rs296520 C1orf106 AU nonsynonymous SNV NM_001142569 exon9 c.C1357T p.R453C 0.791933 0.997 0.678286 0.7650 0.9959 0.29 T 0.0 P -1.041 T 0.0 T 0.0 T Pathogenic 1_200881392_C->T 1 200881392 200881392 C T snp 225.77 0/1 99 13 6 7 0.54 intronic rs10800746 C1orf106 AU NM_001142569 exon9 c.13737+127C>T 0.338658 0.2341 Uncertain 1_200882764_G->A 1 200882764 200882764 G A snp 822.77 0/1 99 46 18 28 0.61 UTR3 rs2275487 C1orf106 AU 0.0794728 0.1825 0.033236 0.0599 0.1852 Uncertain 1_200882794_G->A 1 200882794 200882794 G A snp 313.77 0/1 86 13 3 10 0.77 UTR3 rs138338663 C1orf106 AU 0.057145 0.0686 0.1757 Uncertain 1_200943794_AGGA->- 1 200943794 200943797 AGGA - indel 8260.73 1/1 99 122 0 122 1.0 intronic rs201905676 KIF21B AU NM_001252103 exon2 c.1193-47_1193-44delAGGA 0.998802 1 0.998641 0.9997 1 Uncertain 1_200944840_T->G 1 200944840 200944840 T G snp 427.77 1/1 33 11 0 11 1.0 intronic rs296563 KIF21B AU NM_001252103 exon3 c.2149+43T>G 0.771765 0.7877 0.715351 0.7439 0.7927 Uncertain 1_200952336_C->G 1 200952336 200952336 C G snp 305.78 1/1 24 9 0 9 1.0 intronic rs12562818 KIF21B AU NM_001252102 exon8 c.9574+114C>G 0.264377 0.2917 Uncertain 1_200954186_T->C 1 200954186 200954186 T C snp 102.77 0/1 99 12 8 4 0.33 intronic rs12141466 KIF21B AU NM_001252103 exon8 c.11452+86T>C 0.26238 0.2907 Uncertain 1_200956288_A->G 1 200956288 200956288 A G snp 1382.77 0/1 99 126 66 60 0.48 exonic rs2275485 KIF21B AU synonymous SNV NM_017596 exon25 c.T3450C p.A1150A 0.261981 0.2897 0.261802 0.2030 0.2949 Uncertain 1_200957691_G->C 1 200957691 200957691 G C snp 938.77 0/1 99 44 11 33 0.75 intronic rs2297912 KIF21B AU NM_001252103 exon12 c.15024+19G>C 0.360024 0.5139 0.336269 0.3948 0.6111 Uncertain 1_200958111_A->C 1 200958111 200958111 A C snp 226.77 0/1 99 13 6 7 0.54 intronic rs12143520 KIF21B AU NM_001252103 exon13 c.15411+52A>C 0.263978 0.2986 0.268564 0.2139 0.3006 Uncertain 1_200959052_T->G 1 200959052 200959052 T G snp 1264.77 0/1 99 127 68 59 0.46 intronic rs57758014 KIF21B AU NM_001252103 exon14 c.16421-17T>G 0.263778 0.2976 0.261458 0.2043 0.3038 Uncertain 1_200959302_G->A 1 200959302 200959302 G A snp 1745.77 0/1 99 173 94 79 0.46 exonic rs2297911 KIF21B AU synonymous SNV NM_017596 exon20 c.C2994T p.D998D 0.263778 0.2976 0.261341 0.2033 0.3054 Uncertain 1_200960886_C->T 1 200960886 200960886 C T snp 749.77 0/1 99 93 55 38 0.41 intronic rs12123633 KIF21B AU NM_001252103 exon18 c.18205+33C>T 0.264177 0.2976 0.260880 0.2117 0.3179 Uncertain 1_200960898_A->T 1 200960898 200960898 A T snp 669.77 0/1 99 85 51 34 0.4 intronic rs12145860 KIF21B AU NM_001252103 exon18 c.18205+45A>T 0.257788 0.2976 0.254652 0.2078 0.3130 Uncertain 1_200960915_T->C 1 200960915 200960915 T C snp 660.77 0/1 99 77 44 33 0.43 intronic rs12142447 KIF21B AU NM_001252103 exon18 c.18205+62T>C 0.263778 0.2976 0.267411 Uncertain 1_200965601_G->A 1 200965601 200965601 G A snp 304.77 0/1 99 23 10 13 0.57 intronic rs10920088 KIF21B AU NM_001252103 exon20 c.22875+78G>A 0.589457 0.627 Uncertain 1_200967490_A->G 1 200967490 200967490 A G snp 112.77 0/1 99 11 6 5 0.45 intronic rs10920089 KIF21B AU NM_001252103 exon21 c.24863-21A>G 0.591454 0.627 0.587806 0.5203 0.6362 Uncertain 1_201009897_T->C 1 201009897 201009897 T C snp 980.77 1/1 72 33 0 33 1.0 intronic rs6427875 CACNA1S AU,AD,AO NM_000069 exon3 c.883+56T>C 0.997005 1 0.990132 Uncertain 1_201020105_A->G 1 201020105 201020105 A G snp 1478.77 1/1 99 48 0 48 1.0 intronic rs6702590 CACNA1S AU,AD,AO NM_000069 exon12 c.11153-6A>G 0.880391 0.9931 0.754805 0.7705 0.9947 Uncertain 1_201031307_A->C 1 201031307 201031307 A C snp 493.77 1/1 39 16 0 16 1.0 intronic rs2297903 CACNA1S AU,AD,AO NM_000069 exon21 c.22260+89A>C 0.61242 0.7609 Uncertain 1_201042153_C->T 1 201042153 201042153 C T snp 263.77 0/1 99 20 10 10 0.5 intronic rs3767506 CACNA1S AU,AD,AO NM_000069 exon29 c.32994+201C>T 0.0914537 0.1865 Uncertain 1_201042618_G->A 1 201042618 201042618 G A snp 1729.77 1/1 99 60 0 60 1.0 intronic rs9333652 CACNA1S AU,AD,AO NM_000069 exon30 c.33718-58G>A 0.591254 0.9633 Uncertain 1_201042983_G->A 1 201042983 201042983 G A snp 110.77 0/1 99 8 4 4 0.5 intronic rs2296386 CACNA1S AU,AD,AO NM_000069 exon30 c.33812+213G>A 0.38758 0.7679 Uncertain 1_201043846_CT->- 1 201043846 201043847 CT - indel 407.74 1/1 27 10 0 10 1.0 intronic rs373486562 CACNA1S AU,AD,AO NM_000069 exon31 c.34790+98_34790+99delCT 0.758387 0.9643 Uncertain 1_201044748_A->G 1 201044748 201044748 A G snp 2303.77 1/1 99 94 0 94 1.0 splicing rs1998721 CACNA1S AU,AD,AO NM_000069 exon32 c.35785+5A>G 0.759585 0.9643 0.703291 0.7814 0.9570 Pathogenic 1_201047075_A->G 1 201047075 201047075 A G snp 2208.77 0/1 99 159 69 90 0.57 exonic rs4915477 CACNA1S AU,AD,AO synonymous SNV NM_000069 exon11 c.T1551C p.G517G 0.571086 0.2302 0.736045 0.5839 0.2245 ID=CM023569;DIS=Hypokalaemic periodic paralysis, association with;TAG=DP;PUB=11940049 DP Uncertain 1_201047135_G->A 1 201047135 201047135 G A snp 3357.77 0/1 99 250 117 133 0.53 exonic rs16847674 CACNA1S AU,AD,AO synonymous SNV NM_000069 exon11 c.C1491T p.N497N 0.122005 0.1944 0.084423 0.0848 0.1782 Uncertain 1_201052283_G->A 1 201052283 201052283 G A snp 484.77 0/1 99 50 27 23 0.46 intronic rs3767512 CACNA1S AU,AD,AO NM_000069 exon35 c.43331-6G>A 0.0551118 0.1796 0.015224 0.0406 0.1680 Uncertain 1_201054117_A->T 1 201054117 201054117 A T snp 727.77 0/1 99 57 25 32 0.56 exonic CACNA1S AU,AD,AO nonsynonymous SNV NM_000069 exon9 c.T1193A p.L398Q 0.16 T 1.000 D 0.460 D 0.96 D 0.766 D Pathogenic 1_201060865_G->A 1 201060865 201060865 G A snp 1322.77 0/1 99 120 64 56 0.47 exonic rs2296383 CACNA1S AU,AD,AO synonymous SNV NM_000069 exon5 c.C597T p.I199I 0.305112 0.3929 0.329771 0.3887 0.3588 Uncertain 1_201079235_C->T 1 201079235 201079235 C T snp 873.77 0/1 99 85 54 31 0.36 intronic rs1325310 CACNA1S AU,AD,AO NM_000069 exon43 c.70333-56C>T 0.403754 0.6399 CLINSIG=other;CLNDBN=Thyrotoxic_periodic_paralysis;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000019195.1;CLNDSDB=MedGen:OMIM:Orphanet:SNOMED_CT;CLNDSDBID=C0268446:188580:ORPHA79102:30967002 Uncertain 1_201079458_T->A 1 201079458 201079458 T A snp 3907.77 1/1 99 137 0 137 1.0 intronic rs1325309 CACNA1S AU,AD,AO NM_000069 exon43 c.70439+61T>A 0.571486 0.8204 Uncertain 1_201079590_C->A 1 201079590 201079590 C A snp 258.8 1/1 21 7 0 7 1.0 intronic rs7513829 CACNA1S AU,AD,AO NM_000069 exon43 c.70439+193C>A 0.553115 0.8264 Uncertain 1_201081284_C->- 1 201081284 201081284 C - indel 792.73 0/1 99 50 19 31 0.62 intronic rs112984935 CACNA1S AU,AD,AO NM_000069 exon44 c.72357-31delC 0.293723 0.2858 0.2754 Uncertain 1_201112981_A->G 1 201112981 201112981 A G snp 1020.77 0/1 99 67 26 41 0.61 exonic rs8158 TMEM9 AU synonymous SNV NM_016456 exon5 c.T366C p.Y122Y 0.693091 0.626 0.732047 0.7481 0.6292 Uncertain 1_201113118_A->G 1 201113118 201113118 A G snp 767.77 0/1 99 52 20 32 0.62 intronic rs3738266 TMEM9 AU NM_016456 exon2 c.8289+39A>G 0.938698 0.874 0.947870 0.9420 0.8590 Uncertain 1_201115822_A->G 1 201115822 201115822 A G snp 752.77 0/1 99 109 78 31 0.28 intronic rs3752978 TMEM9 AU NM_016456 exon3 c.11077-45A>G 0.357228 0.3948 0.353683 0.3247 0.3973 Uncertain 1_201116018_C->G 1 201116018 201116018 C G snp 299.77 0/1 99 45 32 13 0.29 intronic rs3752979 TMEM9 AU NM_016456 exon3 c.11186+42C>G 0.938698 0.874 0.947939 0.9423 0.8612 Uncertain 1_201122784_C->T 1 201122784 201122784 C T snp 1192.77 0/1 99 83 40 43 0.52 intronic rs6684980 TMEM9 AU NM_001288571 exon5 c.18120-126C>T 0.685903 0.621 Uncertain 1_201122947_T->G 1 201122947 201122947 T G snp 2343.77 0/1 99 192 91 101 0.53 intronic rs1925361 TMEM9 AU NM_001288570 exon5 c.18186-29T>G 0.939497 0.875 0.947563 0.9443 0.8703 Uncertain 1_201163191_G->T 1 201163191 201163191 G T snp 1134.77 1/1 84 40 0 40 1.0 intronic rs1107128 IGFN1 AU NM_001164586 exon3 c.860-90G>T 0.73742 0.8591 Uncertain 1_201166281_C->T 1 201166281 201166281 C T snp 3263.77 1/1 99 114 0 114 1.0 intronic rs7533096 IGFN1 AU NM_001164586 exon5 c.3924-64C>T 0.503195 0.5347 Uncertain 1_201166383_G->A 1 201166383 201166383 G A snp 4533.77 1/1 99 161 0 161 1.0 exonic rs4915221 IGFN1 AU nonsynonymous SNV NM_001164586 exon5 c.G305A p.R102H 0.732628 0.8562 0.630092 0.6733 0.8441 0.25 T 1.000 P -1.061 T Pathogenic 1_201166435_T->C 1 201166435 201166435 T C snp 3843.77 1/1 99 136 0 136 1.0 exonic rs11589317 IGFN1 AU synonymous SNV NM_001164586 exon5 c.T357C p.T119T 0.867612 0.8552 0.905388 0.8957 0.8413 Uncertain 1_201168803_G->T 1 201168803 201168803 G T snp 616.77 0/1 99 60 37 23 0.38 intronic rs45555632 IGFN1 AU NM_001164586 exon7 c.6361+21G>T 0.096246 0.0853 0.084976 0.0646 0.0852 Uncertain 1_201170772_A->G 1 201170772 201170772 A G snp 1682.77 1/1 99 55 0 55 1.0 intronic rs10157730 IGFN1 AU NM_001164586 exon9 c.8425-74A>G 0.929513 1 Uncertain 1_201170824_C->G 1 201170824 201170824 C G snp 2639.77 1/1 99 104 0 104 1.0 intronic rs10158976 IGFN1 AU NM_001164586 exon9 c.8425-22C>G 0.929712 1 0.917871 0.9385 0.9984 Uncertain 1_201171007_T->G 1 201171007 201171007 T G snp 752.77 1/1 57 23 0 23 1.0 intronic rs10800762 IGFN1 AU NM_001164586 exon9 c.8539+47T>G 0.701478 0.9435 0.689882 0.7036 0.9446 Uncertain 1_201173104_C->T 1 201173104 201173104 C T snp 606.77 0/1 99 37 18 19 0.51 intronic rs832160 IGFN1 AU NM_001164586 exon10 c.10613+70C>T 0.532548 0.6587 Uncertain 1_201175075_C->G 1 201175075 201175075 C G snp 99.28 1/1 9 3 0 3 1.0 intronic rs10920142 IGFN1 AU NM_001164586 exon12 c.12789-135C>G 0.286741 0.3095 Uncertain 1_201175227_C->A 1 201175227 201175227 C A snp 1188.77 0/1 99 72 26 46 0.64 exonic rs832156 IGFN1 AU nonsynonymous SNV NM_001164586 exon12 c.C1206A p.D402E 0.762979 0.6687 0.750548 0.7474 0.6924 1 T 1.000 P -0.931 T Pathogenic 1_201175274_A->G 1 201175274 201175274 A G snp 719.77 0/1 99 93 62 31 0.33 exonic rs9651057 IGFN1 AU nonsynonymous SNV NM_001164586 exon12 c.A1253G p.Q418R 0.375799 0.5903 0.384363 0.4033 0.5788 0.000 P -0.916 T Pathogenic 1_201175715_G->T 1 201175715 201175715 G T snp 1767.77 0/1 99 137 61 76 0.55 exonic rs1341631 IGFN1 AU nonsynonymous SNV NM_001164586 exon12 c.G1694T p.R565L 0.763978 0.6736 0.750110 0.7515 0.7205 0.000 P -1.092 T Pathogenic 1_201176018_A->G 1 201176018 201176018 A G snp 346.77 0/1 99 27 13 14 0.52 exonic rs10753895 IGFN1 AU nonsynonymous SNV NM_001164586 exon12 c.A1997G p.D666G 0.763778 0.6716 0.750986 0.7515 0.6988 0.000 P -1.025 T Pathogenic 1_201176108_G->A 1 201176108 201176108 G A snp 291.77 0/1 99 38 22 16 0.42 exonic rs12094334 IGFN1 AU nonsynonymous SNV NM_001164586 exon12 c.G2087A p.G696D 0.309505 0.3095 0.297635 0.3350 0.3394 0.000 P -0.940 T Pathogenic 1_201176968_A->G 1 201176968 201176968 A G snp 554.77 0/1 99 53 29 24 0.45 exonic rs12063867 IGFN1 AU nonsynonymous SNV NM_001164586 exon12 c.A2947G p.M983V 0.303714 0.3095 0.294131 0.3319 0.3353 0.000 P -0.934 T Pathogenic 1_201177246_T->C 1 201177246 201177246 T C snp 1532.77 0/1 99 132 68 64 0.48 exonic rs72751165 IGFN1 AU synonymous SNV NM_001164586 exon12 c.T3225C p.G1075G 0.311701 0.3095 0.300701 0.3340 0.3373 Uncertain 1_201177278_C->T 1 201177278 201177278 C T snp 1226.77 0/1 99 113 58 55 0.49 exonic rs7551098 IGFN1 AU nonsynonymous SNV NM_001164586 exon12 c.C3257T p.A1086V 0.311502 0.3105 0.301577 0.3351 0.3364 0.000 P -0.936 T Pathogenic 1_201177538_G->T 1 201177538 201177538 G T snp 864.77 0/1 99 84 43 41 0.49 exonic rs7551538 IGFN1 AU nonsynonymous SNV NM_001164586 exon12 c.G3517T p.A1173S 0.304113 0.3105 0.291721 0.3462 0.3418 0.000 P -0.943 T Pathogenic 1_201178470_G->A 1 201178470 201178470 G A snp 1213.77 0/1 99 104 52 52 0.5 exonic rs12757706 IGFN1 AU synonymous SNV NM_001164586 exon12 c.G4449A p.R1483R 0.304113 0.3095 0.3503 0.3550 Uncertain 1_201178667_C->G 1 201178667 201178667 C G snp 60.77 0/1 89 66 55 11 0.17 exonic rs199718718 IGFN1 AU nonsynonymous SNV NM_001164586 exon12 c.C4646G p.T1549R 0 0 1.000 N -0.980 T Pathogenic 1_201178680_A->G 1 201178680 201178680 A G snp 373.77 0/1 99 84 60 24 0.29 exonic rs777956946 IGFN1 AU synonymous SNV NM_001164586 exon12 c.A4659G p.G1553G 0 0 Uncertain 1_201178768_A->G 1 201178768 201178768 A G snp 42.77 0/1 71 180 157 23 0.13 exonic rs199574248 IGFN1 AU nonsynonymous SNV NM_001164586 exon12 c.A4747G p.S1583G 1.000 N -1.014 T Pathogenic 1_201178788_A->G 1 201178788 201178788 A G snp 1383.77 0/1 99 193 110 83 0.43 exonic rs66922684 IGFN1 AU synonymous SNV NM_001164586 exon12 c.A4767G p.G1589G 0.4624 0.2593 Uncertain 1_201178819_G->A 1 201178819 201178819 G A snp 879.77 0/1 99 190 140 50 0.26 exonic rs72468019 IGFN1 AU nonsynonymous SNV NM_001164586 exon12 c.G4798A p.A1600T 0.0668 0.0570 0.000 P -0.480 T Pathogenic 1_201178836_C->T 1 201178836 201178836 C T snp 190.77 0/1 99 172 138 34 0.2 exonic rs367696690 IGFN1 AU synonymous SNV NM_001164586 exon12 c.C4815T p.D1605D 0.0052 0 Uncertain 1_201178866_A->G 1 201178866 201178866 A G snp 416.77 0/1 99 116 79 37 0.32 exonic rs111738288 IGFN1 AU synonymous SNV NM_001164586 exon12 c.A4845G p.G1615G 0.243011 0.2431 0.1135 0.1154 Uncertain 1_201178904_A->G 1 201178904 201178904 A G snp 133.77 0/1 99 76 58 18 0.24 exonic rs201227267 IGFN1 AU nonsynonymous SNV NM_001164586 exon12 c.A4883G p.E1628G 0.1374 0.2333 1.000 N -0.842 T Pathogenic 1_201178924_A->G 1 201178924 201178924 A G snp 73.77 0/1 99 56 44 12 0.21 exonic rs6678538 IGFN1 AU nonsynonymous SNV NM_001164586 exon12 c.A4903G p.K1635E 0.441893 0.4544 0.1416 0.1757 1.000 N -0.732 T Pathogenic 1_201178926_G->A 1 201178926 201178926 G A snp 52.77 0/1 81 55 46 9 0.16 exonic rs6702960 IGFN1 AU synonymous SNV NM_001164586 exon12 c.G4905A p.K1635K 0.442292 0.4554 0.1745 0.2321 Uncertain 1_201178965_A->G 1 201178965 201178965 A G snp 455.77 1/1 39 21 3 18 0.86 exonic rs12758143 IGFN1 AU nonsynonymous SNV NM_001164586 exon12 c.A4944G p.I1648M 0.4889 0.4896 0.999 N -0.858 T Pathogenic 1_201178977_C->T 1 201178977 201178977 C T snp 212.84 1/1 18 9 0 9 1.0 exonic rs368642483 IGFN1 AU synonymous SNV NM_001164586 exon12 c.C4956T p.S1652S 0.0084 0.0181 Uncertain 1_201178984_G->A 1 201178984 201178984 G A snp 135.03 1/1 12 5 0 5 1.0 exonic rs12758581 IGFN1 AU nonsynonymous SNV NM_001164586 exon12 c.G4963A p.G1655S 0.0020 0.0030 1.000 N -0.619 T Pathogenic 1_201181217_A->G 1 201181217 201181217 A G snp 2998.77 0/1 99 212 90 122 0.58 exonic rs12070918 IGFN1 AU nonsynonymous SNV NM_001164586 exon12 c.A7196G p.D2399G 0.324681 0.3105 0.314498 0.3405 0.3393 0.000 P -0.940 T Pathogenic 1_201181223_A->G 1 201181223 201181223 A G snp 5726.77 1/1 99 205 0 205 1.0 exonic rs12070919 IGFN1 AU nonsynonymous SNV NM_001164586 exon12 c.A7202G p.N2401S 0.998003 1 0.994744 0.9968 1 0.000 P -0.986 T Pathogenic 1_201181920_G->T 1 201181920 201181920 G T snp 1860.77 0/1 99 158 72 86 0.54 exonic rs12060924 IGFN1 AU synonymous SNV NM_001164586 exon12 c.G7899T p.G2633G 0.306909 0.3105 0.292159 0.3332 0.3350 0.000 P -0.958 T Likely benign 1_201182779_A->G 1 201182779 201182779 A G snp 2618.77 0/1 99 176 71 105 0.6 intronic rs2282413 IGFN1 AU NM_001164586 exon12 c.20328+30A>G 0.306909 0.3095 0.293249 0.3299 0.3525 Uncertain 1_201183363_C->T 1 201183363 201183363 C T snp 1030.77 0/1 99 107 62 45 0.42 exonic rs2282415 IGFN1 AU synonymous SNV NM_001164586 exon13 c.C8787T p.A2929A 0.32508 0.3095 0.311827 0.3309 0.3460 0.0 P -0.969 T Likely benign 1_201183402_T->C 1 201183402 201183402 T C snp 1118.77 0/1 99 129 76 53 0.41 exonic rs1568810 IGFN1 AU synonymous SNV NM_001164586 exon13 c.T8826C p.P2942P 0.315695 0.3403 0.294864 0.3305 0.3783 1.000 P -1.028 T Likely benign 1_201184097_G->A 1 201184097 201184097 G A snp 1336.77 0/1 99 133 72 61 0.46 intronic rs4915496 IGFN1 AU NM_001164586 exon14 c.21719-43G>A 0.22504 0.2986 0.230663 0.2623 0.2816 Uncertain 1_201184275_C->T 1 201184275 201184275 C T snp 779.77 0/1 99 65 32 33 0.51 exonic rs2275673 IGFN1 AU synonymous SNV NM_001164586 exon14 c.C8988T p.T2996T 0.329872 0.3452 0.312241 0.3371 0.3818 0.0 P -1.054 T Likely benign 1_201187764_T->C 1 201187764 201187764 T C snp 3479.77 1/1 99 131 0 131 1.0 exonic rs10920144 IGFN1 AU synonymous SNV NM_001164586 exon18 c.T9876C p.A3292A 0.929712 0.998 0.901276 0.8916 0.9993 0.980 P -1.046 T Likely benign 1_201187828_T->C 1 201187828 201187828 T C snp 2980.77 1/1 99 108 0 108 1.0 intronic rs3738268 IGFN1 AU NM_001164586 exon18 c.25365+42T>C 0.929513 0.997 0.900292 0.8908 0.9979 Uncertain 1_201187954_C->T 1 201187954 201187954 C T snp 303.78 1/1 24 10 0 10 1.0 intronic rs6667020 IGFN1 AU NM_001164586 exon18 c.25365+168C>T 0.926917 0.998 Uncertain 1_201193668_G->T 1 201193668 201193668 G T snp 216.84 1/1 18 6 0 6 1.0 intronic rs6687494 IGFN1 AU NM_001164586 exon21 c.31385-138G>T Uncertain 1_201195119_C->T 1 201195119 201195119 C T snp 4702.77 1/1 99 172 2 170 0.99 exonic rs3738270 IGFN1 AU nonsynonymous SNV NM_001164586 exon22 c.C10654T p.H3552Y 0.567692 0.8313 0.540674 0.6315 0.8222 0.14 T 1.000 P -1.033 T 0.076 T 0.11 T Pathogenic 1_201197331_G->A 1 201197331 201197331 G A snp 673.77 1/1 51 19 0 19 1.0 intronic rs3753971 IGFN1 AU NM_001164586 exon24 c.35092-182G>A 0.709265 0.6657 Uncertain 1_201282167_C->G 1 201282167 201282167 C G snp 2801.77 1/1 99 85 0 85 1.0 intronic rs1772860 PKP1 AU NM_000299 exon3 c.29463-126C>G 0.504393 0.7381 Uncertain 1_201285759_A->G 1 201285759 201285759 A G snp 1900.77 1/1 99 77 0 77 1.0 exonic rs1779297 PKP1 AU synonymous SNV NM_001005337 exon4 c.A780G p.K260K 0.969449 1 0.966554 0.9892 1 Uncertain 1_201285909_A->G 1 201285909 201285909 A G snp 178.9 1/1 15 5 0 5 1.0 intronic rs1534051 PKP1 AU NM_000299 exon4 c.32995+84A>G 0.811502 0.7698 Uncertain 1_201286615_A->- 1 201286615 201286615 A - indel 2217.73 1/1 99 75 1 74 0.99 intronic rs11336457 PKP1 AU NM_000299 exon5 c.33869-84delA 0.792532 0.9901 Uncertain 1_201286628_C->G 1 201286628 201286628 C G snp 2401.77 1/1 99 93 0 93 1.0 intronic rs1772823 PKP1 AU NM_000299 exon5 c.33869-71C>G 0.79353 0.9901 Uncertain 1_201288007_G->A 1 201288007 201288007 G A snp 59.74 1/1 6 3 0 3 1.0 intronic rs1794868 PKP1 AU NM_000299 exon6 c.35093+84G>A 0.79373 0.9901 Uncertain 1_201288898_A->C 1 201288898 201288898 A C snp 3439.77 1/1 99 124 0 124 1.0 intronic rs1722759 PKP1 AU NM_000299 exon7 c.36113-45A>C 0.989417 1 0.987544 0.9962 1 Uncertain 1_201289646_T->C 1 201289646 201289646 T C snp 984.77 1/1 75 27 0 27 1.0 intronic rs1628711 PKP1 AU NM_000299 exon8 c.36679+137T>C 0.793131 0.9901 Uncertain 1_201290968_T->G 1 201290968 201290968 T G snp 1879.77 1/1 99 56 0 56 1.0 intronic rs1779292 PKP1 AU NM_000299 exon9 c.38275-137T>G 0.989417 1 Uncertain 1_201291066_C->T 1 201291066 201291066 C T snp 6618.77 1/1 99 250 0 250 1.0 intronic rs2071960 PKP1 AU NM_000299 exon9 c.38275-39C>T 0.628594 0.7599 0.604875 0.6768 0.7610 Uncertain 1_201292110_T->C 1 201292110 201292110 T C snp 2400.77 1/1 99 83 0 83 1.0 intronic rs1779288 PKP1 AU NM_000299 exon10 c.39310-30T>C 0.989417 1 0.987929 0.9963 1 Uncertain 1_201293513_G->- 1 201293513 201293513 G - indel 2523.73 1/1 99 63 0 63 1.0 intronic rs36076398 PKP1 AU NM_000299 exon11 c.40725-42delG 0.528754 0.7361 0.487620 0.6087 0.7387 Uncertain 1_201293970_C->T 1 201293970 201293970 C T snp 297.78 1/1 24 10 0 10 1.0 intronic rs1620046 PKP1 AU NM_000299 exon12 c.41238-98C>T 0.944489 1 Uncertain 1_201293985_G->A 1 201293985 201293985 G A snp 506.77 1/1 39 16 0 16 1.0 intronic rs854505 PKP1 AU NM_000299 exon12 c.41238-83G>A 0.686701 0.746 Uncertain 1_201328824_G->A 1 201328824 201328824 G A snp 987.77 0/1 99 91 46 45 0.49 intronic rs2275863 TNNT2 AD NM_001001430 exon2 c.454+33G>A 0.277157 0.2847 0.224658 0.2084 0.3233 Uncertain 1_201328913_G->C 1 201328913 201328913 G C snp 282.77 0/1 99 26 14 12 0.46 intronic rs45509695 TNNT2 AD NM_001001430 exon2 c.454+122G>C 0.277955 0.2857 ID=CS123358;DIS=Cardiomyopathy, hypertrophic;TAG=DM?;PUB=22017532 DM? Uncertain 1_201330429_T->C 1 201330429 201330429 T C snp 1782.77 0/1 99 140 63 77 0.55 exonic rs3730238 TNNT2 AD nonsynonymous SNV NM_000364 exon14 c.A779G p.K260R 0.0974441 0.0466 0.060203 0.0507 0.0476 0.24 T 0.947 P -0.972 T 0.196 T 0.118 T CLINSIG=non-pathogenic|non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided|Primary_familial_hypertrophic_cardiomyopathy;CLNREVSTAT=criteria_provided\x2c_single_submitter|criteria_provided\x2c_single_submitter|criteria_provided\x2c_single_submitter;CLNACC=RCV000036617.3|RCV000125572.1|RCV000172779.1;CLNDSDB=MedGen|MedGen|GeneReviews:MedGen:OMIM:Orphanet:Orphanet:Orphanet:SNOMED_CT;CLNDSDBID=CN169374|CN221809|NBK1768:C0949658:192600:ORPHA155:ORPHA217569:ORPHA99739:83978005 Pathogenic 1_201331554_T->G 1 201331554 201331554 T G snp 1752.77 1/1 99 67 0 67 1.0 intronic rs1104859 TNNT2 AD NM_001001430 exon5 c.2906+311T>G 0.742212 0.5268 0.734123 0.7335 0.5510 Uncertain 1_201331664_C->A 1 201331664 201331664 C A snp 715.77 0/1 99 49 20 29 0.59 intronic rs2365652 TNNT2 AD NM_001001430 exon5 c.2906+421C>A 0.519569 0.4593 Uncertain 1_201333308_G->A 1 201333308 201333308 G A snp 106.77 0/1 66 6 2 4 0.67 intronic rs2001410 TNNT2 AD NM_001001430 exon7 c.5088-117G>A 0.166534 0.0685 Uncertain 1_201334382_G->A 1 201334382 201334382 G A snp 2648.77 1/1 99 99 0 99 1.0 exonic rs3729547 TNNT2 AD synonymous SNV NM_001001430 exon9 c.C318T p.I106I 0.695088 0.5268 0.682762 0.7194 0.5480 CLINSIG=non-pathogenic|non-pathogenic,unknown;CLNDBN=not_specified|Cardiomyopathy,not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter|criteria_provided\x2c_single_submitter,no_assertion_criteria_provided;CLNACC=RCV000036579.2|RCV000125571.2,RCV000168966.1;CLNDSDB=MedGen|MedGen,MedGen;CLNDSDBID=CN169374|CN001491,CN169374 Uncertain 1_201335899_C->T 1 201335899 201335899 C T snp 1505.77 1/1 99 39 0 39 1.0 intronic rs1573230 TNNT2 AD NM_001001430 exon10 c.7628-66C>T 0.98143 1 0.976128 Uncertain 1_201336984_C->T 1 201336984 201336984 C T snp 622.77 0/1 99 92 62 30 0.33 intronic rs3729843 TNNT2 AD NM_001001430 exon11 c.8597+50C>T 0.285543 0.1815 0.326849 0.4128 0.2070 Uncertain 1_201337170_A->G 1 201337170 201337170 A G snp 550.77 1/1 42 15 0 15 1.0 intronic rs3729842 TNNT2 AD NM_001001430 exon12 c.8952-119A>G 0.86222 0.8284 ID=CS146732;DIS=Cardiomyopathy, dilated, association with;TAG=DP;PUB=24992688 DP Uncertain 1_201338553_T->C 1 201338553 201338553 T C snp 2100.77 1/1 99 64 0 64 1.0 intronic rs10800776 TNNT2 AD NM_001001432 exon12 c.10133+83T>C 0.734625 0.5228 0.726894 Uncertain 1_201338586_A->G 1 201338586 201338586 A G snp 400.77 0/1 99 29 14 15 0.52 intronic rs10920183 TNNT2 AD NM_001001432 exon12 c.10133+116A>G 0.519169 0.4554 Uncertain 1_201338896_T->C 1 201338896 201338896 T C snp 1863.77 0/1 99 152 72 80 0.53 intronic rs10920184 TNNT2 AD NM_001276346 exon11 c.10606-47T>C 0.529952 0.4653 0.527372 0.5969 0.4838 Uncertain 1_201339043_C->T 1 201339043 201339043 C T snp 835.77 0/1 99 70 36 34 0.49 intronic rs12049476 TNNT2 AD NM_001276346 exon11 c.10636+70C>T 0.536142 0.4871 0.544678 Uncertain 1_201341176_AGAAG->- 1 201341176 201341180 AGAAG - indel 3049.73 0/1 99 87 41 46 0.53 intronic rs398053705 TNNT2 AD NM_001001430 exon13 c.12832+7_12832+11delAGAAG 0.520367 0.4663 0.504314 0.5919 0.4805 CLINSIG=non-pathogenic;CLNDBN=Cardiomyopathy;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000159266.1;CLNDSDB=MedGen;CLNDSDBID=CN001491 Uncertain 1_201341341_C->T 1 201341341 201341341 C T snp 1756.77 1/1 99 62 0 62 1.0 intronic rs868407 TNNT2 AD NM_001001430 exon14 c.12946+58C>T 0.771765 0.7391 0.720762 Uncertain 1_201353827_G->C 1 201353827 201353827 G C snp 389.77 0/1 99 20 6 14 0.7 intronic rs10920189 LAD1 AU NM_005558 exon6 c.2904-92G>C 0.502796 0.4802 0.5724 0.4823 Uncertain 1_201355522_T->C 1 201355522 201355522 T C snp 531.77 0/1 99 56 34 22 0.39 exonic rs4128458 LAD1 AU nonsynonymous SNV NM_005558 exon3 c.A967G p.K323E 0.553115 0.5188 0.595293 0.5229 0.5384 1 T 0.0 P -1.015 T 0.0 T 0.0 T Pathogenic 1_201355943_C->T 1 201355943 201355943 C T snp 1306.77 0/1 99 125 68 57 0.46 exonic rs2799677 LAD1 AU synonymous SNV NM_005558 exon3 c.G546A p.K182K 0.517572 0.5179 0.556743 0.4814 0.5141 Uncertain 1_201356428_C->A 1 201356428 201356428 C A snp 263.77 0/1 96 14 4 10 0.71 intronic rs4915230 LAD1 AU NM_005558 exon8 c.5291+122C>A 0.430312 0.4802 Uncertain 1_201383616_A->G 1 201383616 201383616 A G snp 418.77 1/1 33 14 0 14 1.0 intronic rs2026593 TNNI1 AU NM_003281 exon5 c.4190-29A>G 0.777756 0.7222 0.837510 0.8728 0.7965 Uncertain 1_201383643_A->C 1 201383643 201383643 A C snp 946.77 1/1 69 31 0 31 1.0 splicing rs2026594 TNNI1 AU NM_003281 exon5 c.4190-2A>C 0.778155 0.7222 0.820939 0.8501 0.7647 Pathogenic 1_201434740_G->A 1 201434740 201434740 G A snp 1746.77 0/1 99 151 77 74 0.49 UTR3 rs1053592 PHLDA3 AU 0.38119 0.122 Uncertain 1_201435303_G->A 1 201435303 201435303 G A snp 224.77 0/1 99 16 8 8 0.5 UTR3 rs12409710 PHLDA3 AU 0.146166 0.1627 Uncertain 1_201437477_A->T 1 201437477 201437477 A T snp 585.77 0/1 99 51 32 19 0.37 UTR3 rs1256930 PHLDA3 AU 0.381789 0.6786 Uncertain 1_201453289_T->C 1 201453289 201453289 T C snp 337.78 1/1 27 10 0 10 1.0 UTR3 rs576697 CSRP1 AU 0.864617 0.8185 Uncertain 1_201457914_A->C 1 201457914 201457914 A C snp 1367.77 0/1 99 128 68 60 0.47 intronic rs3738285 CSRP1 AU NM_001193572 exon3 c.4142-68A>C 0.111821 0.1736 Uncertain 1_201598915_A->C 1 201598915 201598915 A C snp 99.28 1/1 9 3 0 3 1.0 intergenic rs11584075 RPS10P7 AU 0.0625 0.1756 Uncertain 1_201687451_A->G 1 201687451 201687451 A G snp 2146.77 1/1 99 74 0 74 1.0 ncRNA_intronic rs11576721 IPO9-AS1 AU 0.572085 0.5952 Uncertain 1_201688897_T->C 1 201688897 201688897 T C snp 99.28 1/1 9 3 0 3 1.0 ncRNA_intronic rs11811659 IPO9-AS1 AU 0.588458 0.5893 Uncertain 1_201749520_G->C 1 201749520 201749520 G C snp 4284.77 1/1 99 146 0 146 1.0 ncRNA_intronic rs529581 IPO9-AS1 AU 0.290335 0.3075 0.319622 0.3588 0.3117 Uncertain 1_201752429_A->C 1 201752429 201752429 A C snp 1498.77 1/1 99 45 0 45 1.0 ncRNA_intronic rs527725 IPO9-AS1 AU 0.285543 0.2907 Uncertain 1_201754411_T->- 1 201754411 201754411 T - indel 135.73 0/1 99 29 11 18 0.62 ncRNA_intronic rs36061932 IPO9-AS1 AU 0.844848 0.9038 0.2977 0.2676 Uncertain 1_201755469_C->G 1 201755469 201755469 C G snp 522.77 1/1 39 17 0 17 1.0 ncRNA_intronic rs12563363 IPO9-AS1 AU 0.223243 0.2004 Uncertain 1_201772863_-->G 1 201772863 201772863 - G indel 2822.73 1/1 99 80 0 80 1.0 ncRNA_intronic rs34105833 IPO9-AS1 AU 0.980431 1 0.978278 0.9941 1 Uncertain 1_201816640_TCTTTT->- 1 201816640 201816645 TCTTTT - indel 2856.73 0/1 99 71 34 37 0.52 intronic rs146207613 IPO9 AU NM_018085 exon3 c.18342-39_18342-34delTCTTTT 0.274884 0.2794 0.1073 Uncertain 1_201821443_T->C 1 201821443 201821443 T C snp 622.77 0/1 99 48 25 23 0.48 intronic rs1400875 IPO9 AU NM_018085 exon5 c.22983+123T>C 0.222444 0.1022 Uncertain 1_201826340_C->T 1 201826340 201826340 C T snp 2529.77 0/1 99 226 115 111 0.49 intronic rs2172935 IPO9 AU NM_018085 exon11 c.27985+18C>T 0.221645 0.1022 0.286637 0.2800 0.1027 Uncertain 1_201826482_C->T 1 201826482 201826482 C T snp 241.77 0/1 99 21 12 9 0.43 intronic rs2132363 IPO9 AU NM_018085 exon11 c.27985+160C>T 0.221645 0.1022 Uncertain 1_201827919_C->G 1 201827919 201827919 C G snp 792.77 0/1 99 55 21 34 0.62 intronic rs72742073 IPO9 AU NM_018085 exon13 c.29645-63C>G 0.0904553 0.0724 Uncertain 1_201832864_G->C 1 201832864 201832864 G C snp 340.77 0/1 99 20 8 12 0.6 intronic rs2494115 IPO9 AU NM_018085 exon14 c.34398+129G>C 0.222045 0.1022 Uncertain 1_201837935_GT->- 1 201837935 201837936 GT - indel 2042.73 1/1 99 69 0 69 1.0 intronic rs34353605 IPO9 AU NM_018085 exon16 c.39587+11_39587+12delGT 0.698482 0.4137 0.7298 0.4272 Uncertain 1_201840060_TTATT->- 1 201840060 201840064 TTATT - indel 3410.73 1/1 99 66 0 66 1.0 intronic rs112851536 IPO9 AU NM_018085 exon18 c.41649+74_41649+78delTTATT 0.864217 0.7292 Uncertain 1_201840464_T->C 1 201840464 201840464 T C snp 2183.77 1/1 99 70 0 70 1.0 intronic rs2644124 IPO9 AU NM_018085 exon19 c.42118+9T>C 0.992412 1 0.993388 0.9980 1 Uncertain 1_201844128_G->A 1 201844128 201844128 G A snp 2324.77 1/1 99 81 0 81 1.0 intronic rs2678203 IPO9 AU NM_018085 exon22 c.45727+64G>A 0.970847 1 Uncertain 1_201860626_A->G 1 201860626 201860626 A G snp 1172.77 0/1 99 91 43 48 0.53 exonic rs2250377 SHISA4 AU nonsynonymous SNV NM_198149 exon4 c.A477G p.I159M 0.784345 0.8978 0.718361 0.7233 0.8979 0.41 T 0.000 P -1.021 T 0.0 T 0.0 T Pathogenic 1_201865763_A->G 1 201865763 201865763 A G snp 2385.77 0/1 99 196 97 99 0.51 UTR3 rs8028 LMOD1 AU 0.784145 0.8998 0.7281 0.915 Uncertain 1_201868530_A->G 1 201868530 201868530 A G snp 65.77 0/1 94 113 77 36 0.32 exonic LMOD1 AU synonymous SNV NM_012134 exon2 c.T1611C p.P537P Uncertain 1_201869257_G->A 1 201869257 201869257 G A snp 3097.77 0/1 99 209 80 129 0.62 exonic rs2820312 LMOD1 AU nonsynonymous SNV NM_012134 exon2 c.C884T p.T295M 0.217851 0.1012 0.279010 0.2790 0.1030 0.28 T 0.0 P -1.046 T 0.947 T 0.132 D Pathogenic 1_201924504_T->C 1 201924504 201924504 T C snp 2050.77 0/1 99 159 84 75 0.47 upstream rs3806355 TIMM17A AU 0.0800719 0.1607 Uncertain 1_201924749_G->C 1 201924749 201924749 G C snp 2995.77 1/1 99 99 0 99 1.0 intronic rs3820438 TIMM17A AU NM_006335 exon1 c.26+69G>C 0.285543 0.4365 0.200175 Uncertain 1_201926386_-->T 1 201926386 201926386 - T indel 2555.73 0/1 99 213 102 111 0.52 intronic rs397798620 TIMM17A AU NM_006335 exon2 c.1754-22insT 0.164936 0.2202 0.1925 0.2329 Uncertain 1_201952294_C->G 1 201952294 201952294 C G snp 311.03 0/1 12 13 1 12 0.92 intronic rs73074403 RNPEP AU NM_020216 exon1 c.447+53C>G 0.513179 0.5159 Uncertain 1_201952310_T->G 1 201952310 201952310 T G snp 243.88 0/1 16 9 1 8 0.89 intronic rs112370844 RNPEP AU NM_020216 exon1 c.447+69T>G 0.513379 0.5169 Uncertain 1_201952574_T->C 1 201952574 201952574 T C snp 1129.77 0/1 99 80 35 45 0.56 intronic rs4950806 RNPEP AU NM_020216 exon1 c.447+333T>C 0.564097 0.5159 0.5896 0.5 Uncertain 1_201952755_T->A 1 201952755 201952755 T A snp 950.77 0/1 99 82 40 42 0.51 intronic rs4950807 RNPEP AU NM_020216 exon1 c.447+514T>A 0.51278 0.5159 Uncertain 1_201969082_G->A 1 201969082 201969082 G A snp 624.77 0/1 99 83 54 29 0.35 exonic rs1130790 RNPEP AU synonymous SNV NM_020216 exon6 c.G1143A p.Q381Q 0.308506 0.3978 0.347916 0.3890 0.4336 Uncertain 1_201970562_T->C 1 201970562 201970562 T C snp 4624.77 1/1 99 172 0 172 1.0 exonic rs4332408 RNPEP AU synonymous SNV NM_020216 exon7 c.T1263C p.V421V 0.978634 1 0.979240 0.9938 1 Uncertain 1_201970748_G->A 1 201970748 201970748 G A snp 730.77 0/1 99 106 70 36 0.34 intronic rs4131469 RNPEP AU NM_020216 exon8 c.18992-38G>A 0.310304 0.3978 0.349223 0.3884 0.4336 Uncertain 1_201974712_G->C 1 201974712 201974712 G C snp 1664.77 0/1 99 148 78 70 0.47 exonic rs12712 RNPEP AU synonymous SNV NM_020216 exon11 c.G1821C p.L607L 0.0493211 0.003 0.057358 0.0568 0.0037 Uncertain 1_201980119_C->G 1 201980119 201980119 C G snp 472.77 1/1 36 14 0 14 1.0 intronic rs2819361 ELF3 AU 0.757788 0.9117 Uncertain 1_201981218_C->G 1 201981218 201981218 C G snp 1320.77 0/1 99 107 53 54 0.5 exonic rs11543979 ELF3 AU synonymous SNV NM_001114309 exon3 c.C297G p.G99G 0.338259 0.3363 0.295556 0.2550 0.3509 Uncertain 1_201981354_T->C 1 201981354 201981354 T C snp 532.77 0/1 99 40 24 16 0.4 intronic rs56310296 ELF3 AU NM_004433 exon3 c.1042+48T>C 0.349641 0.3413 0.267420 0.2630 0.3511 Uncertain 1_201981355_G->C 1 201981355 201981355 G C snp 500.77 0/1 99 40 25 15 0.38 intronic rs55666208 ELF3 AU NM_004433 exon3 c.1042+49G>C 0.34405 0.3373 0.267918 0.2591 0.3486 Uncertain 1_201981862_T->C 1 201981862 201981862 T C snp 864.77 0/1 99 71 39 32 0.45 exonic rs2819362 ELF3 AU synonymous SNV NM_001114309 exon5 c.T573C p.P191P 0.704273 0.7758 0.605890 0.6047 0.7806 Uncertain 1_202092046_C->T 1 202092046 202092046 C T snp 276.77 0/1 99 23 13 10 0.43 UTR5 rs3795593 GPR37L1 AU 0.599641 0.4901 0.719116 0.7399 0.4780 Uncertain 1_202092332_C->G 1 202092332 202092332 C G snp 1219.77 0/1 99 92 44 48 0.52 exonic rs3795594 GPR37L1 AU nonsynonymous SNV NM_004767 exon1 c.C241G p.P81A 0.223243 0.3423 0.135322 0.1421 0.3507 0.08 T 0.0 P -1.030 T 0.0 T 0.0 T Pathogenic 1_202092360_G->A 1 202092360 202092360 G A snp 3329.77 1/1 99 116 1 115 0.99 exonic rs3795595 GPR37L1 AU nonsynonymous SNV NM_004767 exon1 c.G269A p.G90D 0.850439 0.8353 0.865831 0.8861 0.8242 0.82 T 0.0 P -0.986 T 0.0 T 0.0 T Pathogenic 1_202092415_A->G 1 202092415 202092415 A G snp 4568.77 1/1 99 164 0 164 1.0 exonic rs3795596 GPR37L1 AU synonymous SNV NM_004767 exon1 c.A324G p.G108G 0.851637 0.8363 0.867753 0.8870 0.8274 Uncertain 1_202092580_T->C 1 202092580 202092580 T C snp 4127.77 1/1 99 147 0 147 1.0 exonic rs7516762 GPR37L1 AU synonymous SNV NM_004767 exon1 c.T489C p.S163S 0.83147 0.8353 0.849531 0.8819 0.8298 Uncertain 1_202096815_G->A 1 202096815 202096815 G A snp 870.77 0/1 99 91 52 39 0.43 intronic rs3820380 GPR37L1 AU NM_004767 exon2 c.4777-53G>A 0.518171 0.4792 Uncertain 1_202104616_T->A 1 202104616 202104616 T A snp 1265.77 0/1 99 123 64 59 0.48 exonic rs61758714 ARL8A AU synonymous SNV NM_138795 exon5 c.A411T p.A137A 0.0445288 0.1409 0.0244 0.1478 Uncertain 1_202107423_ACAC->- 1 202107423 202107426 ACAC - indel 701.73 ./1 99 16 0 16 1.0 intronic rs10531175 ARL8A AU NM_138795 exon6 c.3901-72_3901-69delACAC Uncertain 1_202107423_AC->- 1 202107423 202107424 AC - indel 701.73 ./1 99 16 0 16 1.0 intronic ARL8A AU NM_138795 exon6 c.3901-72_3901-71delAC Uncertain 1_202107627_A->G 1 202107627 202107627 A G snp 1271.77 0/1 99 98 43 55 0.56 intronic rs4950830 ARL8A AU NM_138795 exon6 c.3982+51A>G 0.058107 0.1399 0.016300 0.0290 0.1477 Uncertain 1_202113835_T->G 1 202113835 202113835 T G snp 723.77 0/1 99 40 19 21 0.53 UTR5 rs4989100 ARL8A AU 0.710463 0.5933 Uncertain 1_202119546_C->G 1 202119546 202119546 C G snp 458.77 0/1 99 30 13 17 0.57 exonic rs4950772 PTPN7 AU synonymous SNV NM_080588 exon8 c.G999C p.G333G 0.0443291 0.1399 0.001153 0.0322 0.1677 Uncertain 1_202129531_T->C 1 202129531 202129531 T C snp 94.28 1/1 9 3 0 3 1.0 intronic rs12082645 PTPN7 AU NM_002832 exon10 c.11939-141T>C 0.134984 0.1746 Uncertain 1_202130006_C->A 1 202130006 202130006 C A snp 1174.77 0/1 99 89 39 50 0.56 UTR5 rs4259724 PTPN7 AU 0.0946486 0.2272 Uncertain 1_202130754_T->C 1 202130754 202130754 T C snp 331.77 0/1 99 50 34 16 0.32 upstream rs3934648 PTPN7 AU 0.795527 0.7748 0.7871 0.7647 Uncertain 1_202155543_A->C 1 202155543 202155543 A C snp 3646.77 1/1 99 121 0 121 1.0 ncRNA_exonic rs2993432 PTPRVP AU 0.845248 0.8988 0.8963 0.8939 Uncertain 1_202156135_-->CCTCGCT 1 202156135 202156135 - CCTCGCT indel 1325.73 0/1 99 28 4 24 0.86 ncRNA_exonic rs139095833 PTPRVP AU 0.617412 0.6835 0.3828 0.2158 Uncertain 1_202156482_G->A 1 202156482 202156482 G A snp 1352.77 0/1 99 97 44 53 0.55 ncRNA_exonic rs3010088 PTPRVP AU 0.682508 0.7202 Uncertain 1_202156628_A->C 1 202156628 202156628 A C snp 2149.77 1/1 99 73 0 73 1.0 ncRNA_exonic rs3010089 PTPRVP AU 0.841853 0.8988 0.8954 0.895 Uncertain 1_202163063_T->C 1 202163063 202163063 T C snp 37.77 0/1 66 13 10 3 0.23 upstream rs2361431 LGR6 AU 0.680911 0.7192 Uncertain 1_202163364_C->G 1 202163364 202163364 C G snp 314.77 0/1 99 19 6 13 0.68 intronic rs2077598 LGR6 AU NM_001017403 exon1 c.212+35C>G 0.621206 0.6677 0.663415 0.7486 0.6814 Uncertain 1_202163516_C->A 1 202163516 202163516 C A snp 609.77 0/1 99 73 46 27 0.37 intronic rs1812761 LGR6 AU NM_001017403 exon1 c.212+187C>A 0.672923 0.7183 Uncertain 1_202163621_G->A 1 202163621 202163621 G A snp 1447.77 0/1 99 152 84 68 0.45 intronic rs3120747 LGR6 AU NM_001017403 exon1 c.212+292G>A 0.285343 0.2331 Uncertain 1_202194441_G->C 1 202194441 202194441 G C snp 1673.77 1/1 99 54 0 54 1.0 intronic rs3010067 LGR6 AU NM_021636 exon2 c.21603-109G>C 0.467652 0.6885 Uncertain 1_202194509_G->- 1 202194509 202194509 G - indel 7991.73 1/1 99 178 0 178 1.0 intronic rs149459287 LGR6 AU NM_021636 exon2 c.21603-41delG 0.185503 0.3185 0.086568 0.1487 0.3563 Uncertain 1_202196931_G->A 1 202196931 202196931 G A snp 2616.77 1/1 99 92 0 92 1.0 intronic rs1452070 LGR6 AU NM_021636 exon3 c.24116-132G>A 0.720048 0.9444 Uncertain 1_202266547_C->T 1 202266547 202266547 C T snp 2440.77 1/1 99 77 0 77 1.0 intronic rs788827 LGR6 AU NM_021636 exon7 c.93688-88C>T 0.642173 0.7688 Uncertain 1_202266607_C->T 1 202266607 202266607 C T snp 3178.77 1/1 99 118 0 118 1.0 intronic rs788826 LGR6 AU NM_021636 exon7 c.93688-28C>T 0.545927 0.7222 0.447716 0.5466 0.7131 Uncertain 1_202274936_T->C 1 202274936 202274936 T C snp 1601.77 1/1 99 60 0 60 1.0 intronic rs705762 LGR6 AU NM_021636 exon12 c.101930+59T>C 0.535942 0.7183 0.455760 Uncertain 1_202276494_C->T 1 202276494 202276494 C T snp 2879.77 1/1 99 110 0 110 1.0 exonic rs896551 LGR6 AU synonymous SNV NM_001017404 exon12 c.C828T p.P276P 0.533946 0.7173 0.438029 0.5399 0.7050 Uncertain 1_202287206_T->C 1 202287206 202287206 T C snp 5424.77 1/1 99 191 0 191 1.0 exonic rs788795 LGR6 AU nonsynonymous SNV NM_001017404 exon16 c.T1358C p.V453A 0.610024 0.7679 0.528141 0.6340 0.7521 0.72 T 0.0 P -0.987 T 0.0 T 0.002 T Pathogenic 1_202287537_G->A 1 202287537 202287537 G A snp 3509.77 1/1 99 126 0 126 1.0 exonic rs788794 LGR6 AU synonymous SNV NM_001017404 exon16 c.G1689A p.A563A 0.527955 0.7163 0.422899 0.5457 0.7094 Uncertain 1_202287813_T->C 1 202287813 202287813 T C snp 5180.77 1/1 99 187 0 187 1.0 exonic rs788793 LGR6 AU synonymous SNV NM_001017404 exon16 c.T1965C p.F655F 0.610423 0.7679 0.530832 0.6340 0.7511 Uncertain 1_202288462_C->A 1 202288462 202288462 C A snp 43.74 1/1 6 3 0 3 1.0 UTR3 rs788792 LGR6 AU 0.610224 0.7679 Uncertain 1_202302285_T->C 1 202302285 202302285 T C snp 2456.77 0/1 99 192 90 102 0.53 intronic rs145966979 UBE2T AR NM_014176 exon2 c.1259+64T>C 0.0071885 0.0129 Uncertain 1_202318316_A->C 1 202318316 202318316 A C snp 3211.76 1/1 99 106 0 106 1.0 intronic rs930734 PPP1R12B AU NM_001167858 exon1 c.291+46A>C 0.478035 0.7212 0.379677 0.5043 0.6892 Uncertain 1_202386075_T->C 1 202386075 202386075 T C snp 1560.77 1/1 99 51 0 51 1.0 intronic rs2843413 PPP1R12B AU NM_001167858 exon2 c.68066+30T>C 0.969449 1 0.967553 0.9897 1 Uncertain 1_202457784_T->A 1 202457784 202457784 T A snp 1282.77 1/1 93 43 0 43 1.0 intronic rs3820374 PPP1R12B AU NM_002481 exon14 c.139772+33T>A 0.474241 0.7232 0.373904 0.5226 0.7026 Uncertain 1_202457873_T->C 1 202457873 202457873 T C snp 88.28 1/1 9 4 0 4 1.0 intronic rs3767415 PPP1R12B AU NM_002481 exon14 c.139772+122T>C 0.510184 0.7272 Uncertain 1_202464280_G->A 1 202464280 202464280 G A snp 96.28 1/1 9 3 0 3 1.0 intronic rs12405771 PPP1R12B AU NM_002481 exon16 c.146441-140G>A 0.510184 0.7272 Uncertain 1_202531646_T->G 1 202531646 202531646 T G snp 52.74 1/1 6 2 0 2 1.0 intronic rs705750 PPP1R12B AU NM_032104 exon8 c.67308-259T>G 0.707069 0.8016 Uncertain 1_202531741_C->T 1 202531741 202531741 C T snp 1576.77 1/1 99 55 0 55 1.0 intronic rs2249811 PPP1R12B AU NM_032104 exon8 c.67308-164C>T 0.495407 0.7242 0.407394 0.5105 0.6868 Uncertain 1_202536848_C->T 1 202536848 202536848 C T snp 2536.77 1/1 99 94 0 94 1.0 intronic rs2292489 PPP1R12B AU NM_032104 exon10 c.72308-57C>T 0.475839 0.7242 0.393342 Uncertain 1_202572106_CC->- 1 202572106 202572107 CC - indel 7030.73 1/1 99 166 2 164 0.99 intronic rs397982663 SYT2 AD NM_177402 exon6 c.6242-20_6242-19delCC 0.636781 0.6974 0.6284 0.6833 Uncertain 1_202574784_G->A 1 202574784 202574784 G A snp 2643.77 1/1 99 100 0 100 1.0 exonic rs1968583 SYT2 AD synonymous SNV NM_177402 exon2 c.C117T p.S39S 0.358826 0.3621 0.403045 0.4699 0.3438 Uncertain 1_202703053_G->A 1 202703053 202703053 G A snp 1233.77 0/1 99 83 35 48 0.58 intronic rs4310498 KDM5B AU NM_006618 exon5 c.4851+39G>A 0.710663 0.8135 0.736281 0.8126 0.8095 Uncertain 1_202704860_G->A 1 202704860 202704860 G A snp 320.77 0/1 99 21 10 11 0.52 intronic rs4325196 KDM5B AU NM_006618 exon6 c.6552+145G>A 0.73762 0.8135 Uncertain 1_202705455_G->C 1 202705455 202705455 G C snp 697.77 0/1 99 56 28 28 0.5 exonic rs1141109 KDM5B AU synonymous SNV NM_006618 exon21 c.C3150G p.P1050P 0.639577 0.7837 0.641627 0.7394 0.7737 Uncertain 1_202715244_-->A 1 202715244 202715244 - A indel 1636.73 0/1 99 147 76 71 0.48 intronic rs3216061 KDM5B AU NM_006618 exon13 c.17106-25insA 0.638578 0.7817 0.640952 0.7388 0.7739 Uncertain 1_202715284_G->A 1 202715284 202715284 G A snp 2713.77 0/1 99 236 121 115 0.49 exonic rs1141108 KDM5B AU synonymous SNV NM_006618 exon15 c.C2184T p.Y728Y 0.639177 0.7837 0.641627 0.7400 0.7735 Uncertain 1_202718028_A->G 1 202718028 202718028 A G snp 257.77 0/1 99 22 10 12 0.55 intronic rs1892163 KDM5B AU NM_006618 exon14 c.19909-44A>G 0.520367 0.5208 0.598831 0.6700 0.5322 Uncertain 1_202718202_G->A 1 202718202 202718202 G A snp 2697.77 0/1 99 214 101 113 0.53 exonic rs1892164 KDM5B AU synonymous SNV NM_006618 exon14 c.C1887T p.H629H 0.520168 0.5208 0.598416 0.6691 0.5314 Uncertain 1_202722277_G->A 1 202722277 202722277 G A snp 362.77 0/1 99 23 9 14 0.61 intronic rs4950742 KDM5B AU NM_006618 exon16 c.24032+82G>A 0.520168 0.5208 Uncertain 1_202731986_-->CTCAA 1 202731986 202731986 - CTCAA indel 1400.73 0/1 99 46 19 27 0.59 intronic rs140328663 KDM5B AU NM_006618 exon21 c.33773+50insCTCAA 0.623802 0.5526 0.718086 0.7432 0.5650 Uncertain 1_202733238_C->T 1 202733238 202733238 C T snp 795.77 0/1 99 72 38 34 0.47 exonic rs3196669 KDM5B AU synonymous SNV NM_006618 exon6 c.G747A p.T249T 0.635383 0.7679 0.642088 0.7371 0.7551 Uncertain 1_202735751_T->C 1 202735751 202735751 T C snp 384.77 0/1 99 37 18 19 0.51 intronic rs12140729 KDM5B AU NM_006618 exon23 c.37890-302T>C 0.516773 0.5069 Uncertain 1_202743634_G->T 1 202743634 202743634 G T snp 408.77 0/1 99 21 9 12 0.57 intronic rs12410981 KDM5B AU NM_006618 exon25 c.45577-106G>T 0.148962 0.1786 Uncertain 1_202794787_T->C 1 202794787 202794787 T C snp 2367.77 0/1 99 184 84 100 0.54 ncRNA_exonic rs12139944 MGAT4EP AU 0.179513 0.2351 0.2350 0.2222 Uncertain 1_202795262_G->A 1 202795262 202795262 G A snp 743.77 0/1 99 90 58 32 0.36 ncRNA_exonic rs41270973 MGAT4EP AU 0.0537141 0.0764 0.0589 0.0909 Uncertain 1_202827088_A->G 1 202827088 202827088 A G snp 44.78 0/1 27 3 1 2 0.67 intergenic rs6687143 MGAT4EP AU 0.805312 0.8016 Uncertain 1_202866331_A->C 1 202866331 202866331 A C snp 37.77 0/1 66 4 2 2 0.5 intronic rs10920519 KLHL12 AU NM_001303051 exon6 c.4428+243A>C 0.292332 0.5208 Uncertain 1_202878454_T->A 1 202878454 202878454 T A snp 56.74 1/1 6 2 0 2 1.0 intronic rs1539357 KLHL12 AU NM_001303051 exon7 c.16592+202T>A 0.45028 0.3145 Uncertain 1_202887295_G->A 1 202887295 202887295 G A snp 2815.77 0/1 99 250 123 127 0.51 splicing rs2275734 KLHL12 AU NM_001303051 exon9 c.25638-3G>A 0.438299 0.3085 0.545133 0.5435 0.3246 Pathogenic 1_202888947_T->C 1 202888947 202888947 T C snp 1284.77 0/1 99 107 49 58 0.54 exonic rs3182429 KLHL12 AU synonymous SNV NM_001303051 exon3 c.A399G p.T133T 0.291733 0.5208 0.188990 0.2662 0.5300 Uncertain 1_202889207_T->C 1 202889207 202889207 T C snp 96.28 1/1 9 3 0 3 1.0 intronic rs7520522 KLHL12 AU NM_001303051 exon10 c.27376+171T>C 0.940895 1 Uncertain 1_202897431_A->G 1 202897431 202897431 A G snp 77.77 0/1 99 6 3 3 0.5 intronic rs10800882 KLHL12 AU NM_001303051 exon12 c.35948-177A>G 0.457069 0.3155 Uncertain 1_202917697_T->A 1 202917697 202917697 T A snp 1131.77 0/1 99 99 52 47 0.47 intronic rs72752793 ADIPOR1 AU NM_001290629 exon6 c.6848+149T>A 0.0882588 0.2153 Uncertain 1_202920300_A->C 1 202920300 202920300 A C snp 94.28 1/1 9 3 0 3 1.0 intronic rs2275737 ADIPOR1 AU NM_001290629 exon7 c.9592+8A>C 0.636182 0.8274 Uncertain 1_202931839_G->A 1 202931839 202931839 G A snp 1188.77 0/1 99 82 37 45 0.55 intronic rs2232854 CYB5R1 AU NM_016243 exon1 c.173+12G>A 0.313698 0.4296 0.305474 0.3279 0.4044 Uncertain 1_202931998_C->A 1 202931998 202931998 C A snp 343.77 0/1 99 14 4 10 0.71 intronic rs2232852 CYB5R1 AU NM_016243 exon1 c.173+171C>A 0.472444 0.625 Uncertain 1_202932154_G->A 1 202932154 202932154 G A snp 1337.77 0/1 99 100 46 54 0.54 intronic rs2232851 CYB5R1 AU NM_016243 exon2 c.539-39G>A 0.0924521 0.2153 0.022374 0.0604 0.2183 0.000 P -1.022 T Uncertain 1_202933992_G->C 1 202933992 202933992 G C snp 268.77 0/1 99 21 10 11 0.52 intronic rs1418445 CYB5R1 AU NM_016243 exon4 c.2169+169G>C 0.46865 0.625 Uncertain 1_202935819_C->A 1 202935819 202935819 C A snp 1822.77 0/1 99 190 112 78 0.41 intronic rs2232843 CYB5R1 AU NM_016243 exon8 c.4222-57C>A 0.0882588 0.2163 Uncertain 1_202935911_T->C 1 202935911 202935911 T C snp 2273.77 0/1 99 244 143 101 0.41 exonic rs2232842 CYB5R1 AU nonsynonymous SNV NM_016243 exon2 c.A131G p.N44S 0.192492 0.4117 0.068046 0.1091 0.4232 0.41 T 0.730 P -0.998 T 0.001 T 0.001 T Pathogenic 1_202978032_C->G 1 202978032 202978032 C G snp 220.77 0/1 99 14 6 8 0.57 intronic rs1418444 TMEM183A AU NM_138391 exon3 c.1345+94C>G 0.459864 0.3056 Uncertain 1_202983873_G->A 1 202983873 202983873 G A snp 752.77 0/1 99 64 32 32 0.5 intronic rs72754738 TMEM183A AU NM_138391 exon4 c.7423-143G>A 0.105631 0.2837 Uncertain 1_202987770_T->C 1 202987770 202987770 T C snp 661.77 0/1 99 66 38 28 0.42 intronic rs782788 TMEM183A AU NM_138391 exon6 c.11096+81T>C 0.349042 0.1369 Uncertain 1_202987796_G->A 1 202987796 202987796 G A snp 554.77 0/1 99 52 29 23 0.44 intronic rs782787 TMEM183A AU NM_138391 exon6 c.11096+107G>A 0.333067 0.1369 Uncertain 1_203003870_G->A 1 203003870 203003870 G A snp 2516.77 1/1 99 83 0 83 1.0 intronic rs782800 PPFIA4 AU 0.489617 0.5317 0.5831 0.5158 Uncertain 1_203004627_-->C 1 203004627 203004627 - C indel 780.73 1/1 69 23 0 23 1.0 intronic rs397771953 PPFIA4 AU 0.897963 1 Uncertain 1_203006098_A->G 1 203006098 203006098 A G snp 262.77 0/1 99 17 8 9 0.53 intronic rs782803 PPFIA4 AU 0.362819 0.4385 Uncertain 1_203006179_G->A 1 203006179 203006179 G A snp 1065.77 0/1 99 101 54 47 0.47 intronic rs782804 PPFIA4 AU 0.353235 0.4236 Uncertain 1_203006243_A->G 1 203006243 203006243 A G snp 5499.77 1/1 99 208 0 208 1.0 intronic rs782805 PPFIA4 AU 0.882987 0.9891 Uncertain 1_203008174_G->C 1 203008174 203008174 G C snp 3634.77 1/1 99 125 0 125 1.0 exonic rs61821060 PPFIA4 AU nonsynonymous SNV NM_001304331 exon2 c.G38C p.R13P 1 1 1 1 0.57 T 1.0 P -0.975 T 0.0 T 0.0 T Pathogenic 1_203008286_C->G 1 203008286 203008286 C G snp 794.77 0/1 99 64 32 32 0.5 exonic rs10920553 PPFIA4 AU synonymous SNV NM_001304331 exon2 c.C150G p.T50T 0.503994 0.5863 0.517620 0.5829 0.5936 Uncertain 1_203012906_G->A 1 203012906 203012906 G A snp 288.77 0/1 99 25 12 13 0.52 intronic rs4950908 PPFIA4 AU NM_001304332 exon4 c.4922-152G>A 0.672724 0.7976 Uncertain 1_203013663_A->G 1 203013663 203013663 A G snp 457.77 0/1 99 52 32 20 0.38 intronic rs4950909 PPFIA4 AU NM_001304332 exon5 c.5445+82A>G 0.0990415 0.2431 Uncertain 1_203017575_A->G 1 203017575 203017575 A G snp 145.77 0/1 99 14 7 7 0.5 intronic rs72754766 PPFIA4 AU NM_001304332 exon11 c.9574-135A>G 0.0123802 0.0377 Uncertain 1_203026203_T->G 1 203026203 203026203 T G snp 133.03 1/1 12 4 0 4 1.0 intronic rs903362 PPFIA4 AU NM_015053 exon6 c.5175+125T>G 0.998802 1 Uncertain 1_203040673_A->G 1 203040673 203040673 A G snp 473.77 1/1 36 12 0 12 1.0 intronic rs9803710 PPFIA4 AU NM_015053 exon15 c.19916-146A>G 1 1 Uncertain 1_203053768_T->C 1 203053768 203053768 T C snp 884.77 0/1 99 96 53 43 0.45 intronic rs903356 MYOG AU NM_002479 exon2 c.737-6T>C 0.95607 0.8819 0.973089 0.9644 0.9031 Uncertain 1_203055101_A->G 1 203055101 203055101 A G snp 1080.77 0/1 99 99 52 47 0.47 UTR5 rs4950877 MYOG AU 0.520367 0.5308 0.539136 0.5534 0.5617 Uncertain 1_203098275_T->G 1 203098275 203098275 T G snp 3334.77 0/1 99 247 122 125 0.51 exonic rs2228079 ADORA1 AU synonymous SNV NM_000674 exon3 c.T306G p.A102A 0.233626 0.1448 0.263494 0.3068 0.1520 Uncertain 1_203098455_T->C 1 203098455 203098455 T C snp 603.77 0/1 99 41 18 23 0.56 intronic rs10920569 ADORA1 AU NM_000674 exon3 c.341+145T>C 0.229233 0.1478 Uncertain 1_203137784_-->CT 1 203137784 203137784 - CT indel 2852.73 0/1 99 168 101 67 0.4 UTR3 rs34556384 MYBPH AU 0.724241 0.4067 0.840872 0.8283 0.4790 Uncertain 1_203138304_C->T 1 203138304 203138304 C T snp 498.77 0/1 99 26 9 17 0.65 intronic rs33945931 MYBPH AU NM_004997 exon4 c.594-76C>T 0.108427 0.0804 Uncertain 1_203148633_A->G 1 203148633 203148633 A G snp 2952.77 1/1 99 104 0 104 1.0 exonic rs4950927 CHI3L1 AU,AD synonymous SNV NM_001276 exon10 c.T1092C p.C364C 0.999601 1 0.998155 0.9988 0.9998 1.000 P -1.061 T Likely benign 1_203154512_G->A 1 203154512 203154512 G A snp 141.77 0/1 99 16 11 5 0.31 exonic rs182806418 CHI3L1 AU,AD synonymous SNV NM_001276 exon3 c.C57T p.C19C 0.000599042 0.003 0.0001 0.0012 Uncertain 1_203155882_G->C 1 203155882 203155882 G C snp 1536.77 1/1 99 44 0 44 1.0 UTR5 rs4950928 CHI3L1 AU,AD 0.785543 0.8512 ID=CR070419;DIS=Schizophrenia, association with;TAG=DFP;PUB=17160890 DFP Uncertain 1_203174864_T->C 1 203174864 203174864 T C snp 820.77 1/1 60 26 0 26 1.0 intergenic rs4950932 CHI3L1 AU,AD 0.282748 0.5317 Uncertain 1_203174921_A->G 1 203174921 203174921 A G snp 2136.77 1/1 99 75 0 75 1.0 intergenic rs2486951 CHI3L1 AU,AD 0.292332 0.5744 Uncertain 1_203175107_A->C 1 203175107 203175107 A C snp 1063.77 1/1 78 35 0 35 1.0 intergenic rs2494296 CHI3L1 AU,AD 0.713858 0.9643 Uncertain 1_203186950_-->AGACCATGGCCCCGCCCAGTCCCT 1 203186950 203186950 - AGACCATGGCCCCGCCCAGTCCCT indel 14511.7 1/1 99 97 0 97 1.0 exonic rs150192398 CHIT1 AR stopgain NM_003465 exon10 c.1072_1073insAGGGACTGGGCGGGGCCATGGTCT p.W358delinsX 0.289137 0.5704 0.2309 0.5197 ID=COSM1745478;OCCURENCE=4(urinary_tract) Pathogenic 1_203187341_-->GGTCAA 1 203187341 203187341 - GGTCAA indel 1420.73 0/1 99 48 13 35 0.73 intronic rs142759151 CHIT1 AR NM_001256125 exon2 c.977+348insGGTCAA 0.469249 0.7758 Uncertain 1_203188692_A->C 1 203188692 203188692 A C snp 2714.77 1/1 99 95 0 95 1.0 intronic rs2486958 CHIT1 AR NM_001256125 exon4 c.2775-99A>C 0.67512 0.9325 Uncertain 1_203191262_C->G 1 203191262 203191262 C G snp 475.77 1/1 39 13 0 13 1.0 intronic rs2244385 CHIT1 AR NM_001256125 exon5 c.5313-67C>G 0.330272 0.5327 Uncertain 1_203192449_C->- 1 203192449 203192449 C - indel 1697.73 1/1 99 49 0 49 1.0 intronic rs3216011 CHIT1 AR NM_001256125 exon6 c.6371+62delC 0.329273 0.5347 Uncertain 1_203198939_A->G 1 203198939 203198939 A G snp 98.77 0/1 99 14 10 4 0.29 upstream rs74136959 CHIT1 AR 0.101238 0.122 Uncertain 1_203274536_C->A 1 203274536 203274536 C A snp 231.8 1/1 21 7 0 7 1.0 upstream rs6682221 BTG2 AU 0.85024 0.877 Uncertain 1_203276546_G->A 1 203276546 203276546 G A snp 1369.77 0/1 99 133 74 59 0.44 exonic rs12039961 BTG2 AU nonsynonymous SNV NM_006763 exon2 c.G457A p.V153M 0.00858626 0.0188 0.000308 0.0088 0.0250 0.13 T 0.839 N -1.032 T 0.007 T 0.003 T Pathogenic 1_203311736_T->C 1 203311736 203311736 T C snp 929.77 0/1 99 56 22 34 0.61 intronic rs1891180 FMOD AU NM_002023 exon1 c.152+114T>C 0.496406 0.4831 Uncertain 1_203317162_C->T 1 203317162 203317162 C T snp 1420.77 0/1 99 111 52 59 0.53 exonic rs7543148 FMOD AU synonymous SNV NM_002023 exon2 c.G237A p.E79E 0.618411 0.6528 0.668614 0.7595 0.6391 0.27 T 1.0 P -1.044 T Likely benign 1_203452226_T->C 1 203452226 203452226 T C snp 340.77 0/1 99 40 26 14 0.35 intronic rs2233724 PRELP AU 0.203075 0.2411 Uncertain 1_203455754_G->A 1 203455754 203455754 G A snp 430.77 0/1 99 38 21 17 0.45 intronic rs2233731 PRELP AU NM_201348 exon3 c.3521-79G>A 0.0972444 0.1984 Uncertain 1_203465396_T->C 1 203465396 203465396 T C snp 848.77 0/1 99 75 42 33 0.44 intronic rs2242199 OPTC AU NM_014359 exon2 c.231+32T>C 0.385184 0.4692 0.361910 0.4039 0.4888 Uncertain 1_203467660_G->A 1 203467660 203467660 G A snp 289.77 0/1 99 20 11 9 0.45 intronic rs6668135 OPTC AU NM_014359 exon4 c.2675-148G>A 0.178914 0.2976 Uncertain 1_203652444_A->G 1 203652444 203652444 A G snp 2395.77 1/1 99 89 0 89 1.0 exonic rs1419114 ATP2B4 AU synonymous SNV NM_001001396 exon2 c.A111G p.S37S 0.85004 0.999 0.828925 0.8756 0.9995 Uncertain 1_203667409_T->C 1 203667409 203667409 T C snp 3794.77 1/1 99 142 0 142 1.0 exonic rs2228445 ATP2B4 AU synonymous SNV NM_001001396 exon3 c.T318C p.L106L 0.859824 0.999 0.844841 0.8801 0.9995 Uncertain 1_203667536_A->G 1 203667536 203667536 A G snp 2143.77 1/1 99 70 0 70 1.0 intronic rs6676272 ATP2B4 AU NM_001001396 exon3 c.15149+54A>G 0.391174 0.6419 Uncertain 1_203670128_A->T 1 203670128 203670128 A T snp 510.77 1/1 39 15 0 15 1.0 intronic rs3820197 ATP2B4 AU NM_001001396 exon6 c.17718+77A>T 0.365216 0.5933 Uncertain 1_203670179_A->G 1 203670179 203670179 A G snp 99.28 1/1 9 3 0 3 1.0 intronic rs3766752 ATP2B4 AU NM_001001396 exon6 c.17718+128A>G 0.369209 0.5992 Uncertain 1_203673069_G->A 1 203673069 203673069 G A snp 105.77 0/1 66 7 2 5 0.71 intronic ATP2B4 AU NM_001001396 exon8 c.20608+128G>A Uncertain 1_203673088_A->G 1 203673088 203673088 A G snp 172.9 1/1 15 5 0 5 1.0 intronic rs2236550 ATP2B4 AU NM_001001396 exon8 c.20608+147A>G 0.127796 0.2986 Uncertain 1_203679934_A->G 1 203679934 203679934 A G snp 2207.77 1/1 99 76 0 76 1.0 intronic rs2032018 ATP2B4 AU NM_001001396 exon12 c.27671-70A>G 0.654952 0.7966 Uncertain 1_203681085_T->C 1 203681085 203681085 T C snp 769.77 0/1 99 74 41 33 0.45 splicing rs2275321 ATP2B4 AU NM_001001396 exon13 c.28754-2T>C 0.157348 0.3194 0.093649 0.0617 0.3313 Pathogenic 1_203689936_C->G 1 203689936 203689936 C G snp 1008.77 1/1 75 32 0 32 1.0 intronic rs4951112 ATP2B4 AU NM_001001396 exon16 c.37535+68C>G 0.361621 0.4623 Uncertain 1_203690633_A->G 1 203690633 203690633 A G snp 155.77 0/1 63 7 2 5 0.71 intronic rs2275323 ATP2B4 AU NM_001001396 exon17 c.38205+95A>G 0.166134 0.3919 Uncertain 1_203740458_C->A 1 203740458 203740458 C A snp 887.77 0/1 99 75 39 36 0.48 intronic rs3820196 LAX1 AU NM_017773 exon3 c.5801-36C>A 0.290535 0.6101 0.115870 0.1837 0.6008 Uncertain 1_203740462_G->A 1 203740462 203740462 G A snp 884.77 0/1 99 77 41 36 0.47 intronic rs3820195 LAX1 AU NM_017773 exon3 c.5801-32G>A 0.290535 0.6101 0.115870 0.1837 0.6012 Uncertain 1_203740615_T->C 1 203740615 203740615 T C snp 1527.77 0/1 99 120 54 66 0.55 intronic rs3737976 LAX1 AU NM_001282878 exon3 c.82+10T>C 0.370208 0.1042 0.473320 0.4990 0.0895 Uncertain 1_203741368_C->A 1 203741368 203741368 C A snp 404.77 0/1 99 41 23 18 0.44 intronic rs3737973 LAX1 AU NM_001282878 exon4 c.752+93C>A 0.372005 0.1369 Uncertain 1_203766964_A->G 1 203766964 203766964 A G snp 3698.77 0/1 99 250 106 144 0.58 exonic rs3737972 ZBED6 AU nonsynonymous SNV NM_001174108 exon1 c.A314G p.N105S 0.134784 0.38 0.0464 0.3032 1 T 0.0 P -0.972 T Pathogenic 1_203768328_T->C 1 203768328 203768328 T C snp 2896.77 0/1 99 249 139 110 0.44 exonic rs7552670 ZBED6 AU nonsynonymous SNV NM_001174108 exon1 c.T1678C p.F560L 0.183706 0.2887 0.1637 0.2828 0.6 T 0.573 P -0.900 T Pathogenic 1_203769532_G->A 1 203769532 203769532 G A snp 883.77 0/1 99 68 30 38 0.56 exonic rs7540041 ZBED6 AU nonsynonymous SNV NM_001174108 exon1 c.G2882A p.S961N 0.183706 0.2887 0.1786 0.2857 0.17 T 0.001 P -0.984 T Pathogenic 1_203786152_A->C 1 203786152 203786152 A C snp 256.77 0/1 99 32 18 14 0.44 UTR5 rs7555435 ZC3H11A AU 0.239617 0.4921 0.1754 0.4564 Uncertain 1_203787700_T->C 1 203787700 203787700 T C snp 1377.77 1/1 99 45 0 45 1.0 exonic rs4951260 ZC3H11A AU synonymous SNV NM_014827 exon6 c.T57C p.G19G 0.978834 1 0.975704 0.9936 1 Uncertain 1_203803016_A->G 1 203803016 203803016 A G snp 1580.77 1/1 99 57 0 57 1.0 intronic rs6694647 ZC3H11A AU NM_014827 exon12 c.16783+35A>G 0.978834 1 0.975857 0.9936 1 Uncertain 1_203819440_A->C 1 203819440 203819440 A C snp 266.77 0/1 99 19 10 9 0.47 intronic rs10494847 ZC3H11A AU NM_014827 exon18 c.33444-202A>C 0.183906 0.2877 Uncertain 1_203821133_C->T 1 203821133 203821133 C T snp 105.77 0/1 99 10 6 4 0.4 intronic rs16830293 ZC3H11A AU NM_014827 exon20 c.35070-135C>T 0.139976 0.4573 Uncertain 1_203821200_G->A 1 203821200 203821200 G A snp 1451.77 1/1 99 48 0 48 1.0 intronic rs7512877 ZC3H11A AU NM_014827 exon20 c.35070-68G>A 0.978834 1 Uncertain 1_203833111_T->C 1 203833111 203833111 T C snp 63.77 0/1 92 8 5 3 0.38 intronic rs6697629 SNRPE AD NM_003094 exon3 c.2066+258T>C 0.765575 0.8343 Uncertain 1_204006095_A->G 1 204006095 204006095 A G snp 1350.77 0/1 99 90 42 48 0.53 ncRNA_splicing rs41264273 LINC00303 AU 0.211861 0.25 Uncertain 1_204006538_T->C 1 204006538 204006538 T C snp 65.77 0/1 94 11 7 4 0.36 ncRNA_intronic rs4951291 LINC00303 AU 0.895567 0.8016 Uncertain 1_204006597_G->A 1 204006597 204006597 G A snp 580.77 0/1 99 54 28 26 0.48 ncRNA_exonic rs4951039 LINC00303 AU 0.864417 0.755 0.894921 0.8688 0.7423 Uncertain 1_204010389_G->T 1 204010389 204010389 G T snp 984.77 0/1 99 71 36 35 0.49 ncRNA_exonic rs10437107 LINC00303 AU 0.877995 0.7996 Uncertain 1_204081655_-->CACACT 1 204081655 204081655 - CACACT indel 1254.73 1/1 59 23 1 22 0.96 intronic rs34093119 SOX13 AU Uncertain 1_204081892_C->T 1 204081892 204081892 C T snp 857.77 1/1 63 29 0 29 1.0 intronic rs2250538 SOX13 AU 0.346246 0.5784 Uncertain 1_204085609_A->G 1 204085609 204085609 A G snp 6729.77 1/1 99 241 0 241 1.0 intronic rs7551756 SOX13 AU NM_005686 exon5 c.3591-25A>G 0.395567 0.7292 0.325115 0.3782 0.7341 Uncertain 1_204091245_G->A 1 204091245 204091245 G A snp 882.77 0/1 99 79 45 34 0.43 intronic rs2692018 SOX13 AU NM_005686 exon9 c.9321-119G>A 0.154752 0.3621 Uncertain 1_204094902_T->C 1 204094902 204094902 T C snp 341.78 1/1 27 10 0 10 1.0 intronic rs2692010 SOX13 AU NM_005686 exon14 c.12942-83T>C 0.920128 1 Uncertain 1_204094963_C->T 1 204094963 204094963 C T snp 1028.77 0/1 99 66 28 38 0.58 intronic rs12566764 SOX13 AU NM_005686 exon14 c.12942-22C>T 0.136781 0.3462 0.062490 0.1158 0.3723 Uncertain 1_204103618_G->A 1 204103618 204103618 G A snp 872.77 0/1 99 78 39 39 0.5 intronic rs2293335 ETNK2 AU NM_018208 exon2 c.2331-24G>A 0.49361 0.5298 0.543441 0.6372 0.5303 Uncertain 1_204108961_A->G 1 204108961 204108961 A G snp 179.77 0/1 99 12 6 6 0.5 intronic rs11799485 ETNK2 AU NM_018208 exon4 c.7851-201A>G 0.285343 0.3889 Uncertain 1_204110334_A->G 1 204110334 204110334 A G snp 4857.77 1/1 99 185 0 185 1.0 intronic rs10793755 ETNK2 AU NM_018208 exon5 c.9131-108A>G 0.948682 0.996 0.9691 0.9983 Uncertain 1_204116452_G->A 1 204116452 204116452 G A snp 691.77 0/1 99 49 24 25 0.51 intronic rs45528645 ETNK2 AU NM_018208 exon6 c.14581+560G>A 0.170327 0.2837 Uncertain 1_204130376_G->C 1 204130376 204130376 G C snp 1375.77 0/1 99 101 42 59 0.58 intronic rs2272237 REN AR,AD,AU NM_000537 exon8 c.6276-43G>C 0.195487 0.1567 0.258804 0.2897 0.1654 Uncertain 1_204214976_ACACAC->- 1 204214976 204214981 ACACAC - indel 627.73 0/1 99 41 10 31 0.76 intronic rs533951551 PLEKHA6 AU NM_014935 exon10 c.22257+122_22257+127delACACAC 0.67512 0.7688 Uncertain 1_204216410_C->T 1 204216410 204216410 C T snp 839.77 0/1 99 114 77 37 0.32 intronic rs4951329 PLEKHA6 AU NM_014935 exon11 c.23895-82C>T 0.704273 0.8085 Uncertain 1_204216468_C->T 1 204216468 204216468 C T snp 1080.77 0/1 99 144 94 50 0.35 intronic rs4512713 PLEKHA6 AU NM_014935 exon11 c.23895-24C>T 0.66893 0.8085 0.649777 0.6703 0.8156 Uncertain 1_204216601_G->A 1 204216601 204216601 G A snp 945.77 0/1 99 91 48 43 0.47 intronic rs4288652 PLEKHA6 AU NM_014935 exon11 c.23991+13G>A 0.667732 0.8085 0.649931 0.6695 0.8163 Uncertain 1_204219850_G->A 1 204219850 204219850 G A snp 1238.77 0/1 99 83 35 48 0.58 intronic rs4951331 PLEKHA6 AU NM_014935 exon14 c.27145+108G>A 0.705072 0.8085 Uncertain 1_204230581_G->A 1 204230581 204230581 G A snp 567.77 0/1 99 63 40 23 0.37 splicing rs3795569 PLEKHA6 AU NM_014935 exon17 c.37979+5G>A 0.597644 0.8095 0.556897 0.6058 0.8158 0.3 T 0.999 P -1.147 T Pathogenic 1_204234197_GT->- 1 204234197 204234198 GT - indel 1479.73 0/1 99 122 45 77 0.63 intronic rs765726933 PLEKHA6 AU NM_014935 exon18 c.41573+27_41573+28delGT 0.2207 0.3215 Uncertain 1_204234222_T->C 1 204234222 204234222 T C snp 810.77 0/1 99 73 40 33 0.45 intronic rs4076020 PLEKHA6 AU NM_014935 exon18 c.41573+52T>C 0.702077 0.8036 0.692519 0.6948 0.8113 Uncertain 1_204236377_A->G 1 204236377 204236377 A G snp 85.77 0/1 67 6 2 4 0.67 intronic rs4951340 PLEKHA6 AU NM_014935 exon19 c.44005-225A>G 0.703874 0.8363 Uncertain 1_204237416_C->T 1 204237416 204237416 C T snp 1438.77 0/1 99 106 48 58 0.55 exonic rs10900571 PLEKHA6 AU nonsynonymous SNV NM_014935 exon4 c.G127A p.V43I 0.632588 0.8046 0.616254 0.6810 0.8165 0.5 T 0.001 P -1.071 T 0.0 T 0.0 T Pathogenic 1_204242731_C->A 1 204242731 204242731 C A snp 1093.77 0/1 99 92 47 45 0.49 intronic rs35803438 PLEKHA6 AU NM_014935 exon21 c.50156-22C>A 0.20028 0.2946 0.162156 0.1893 0.2738 Uncertain 1_204242838_A->C 1 204242838 204242838 A C snp 2156.77 0/1 99 182 86 96 0.53 exonic rs33911350 PLEKHA6 AU synonymous SNV NM_014935 exon3 c.T18G p.G6G 0.200479 0.2946 0.162617 0.1898 0.2752 Uncertain 1_204379617_T->C 1 204379617 204379617 T C snp 4115.77 1/1 99 135 0 135 1.0 exonic rs3014626 PPP1R15B AR nonsynonymous SNV NM_032833 exon1 c.A923G p.N308S 0.96885 1 0.968630 0.9914 1 1 T 0.000 P -0.999 T 0.0 T 0.0 T Pathogenic 1_204401059_A->G 1 204401059 204401059 A G snp 522.77 0/1 99 32 15 17 0.53 intronic rs949696 PIK3C2B AU NM_002646 exon6 c.6942+138A>G 0.096845 0.1419 Uncertain 1_204409281_C->G 1 204409281 204409281 C G snp 3290.77 1/1 99 106 0 106 1.0 intronic rs3014631 PIK3C2B AU NM_002646 exon12 c.15340-38C>G 0.912141 1 0.913578 0.9755 1 Uncertain 1_204410861_T->C 1 204410861 204410861 T C snp 88.28 1/1 9 3 0 3 1.0 intronic rs2942125 PIK3C2B AU NM_002646 exon13 c.16712+170T>C 0.906749 1 Uncertain 1_204413297_C->T 1 204413297 204413297 C T snp 2532.77 1/1 99 83 0 83 1.0 intronic rs2292459 PIK3C2B AU NM_002646 exon16 c.19311+7C>T 0.610823 0.494 0.710518 0.7286 0.4810 Uncertain 1_204413299_G->A 1 204413299 204413299 G A snp 1134.77 0/1 99 84 37 47 0.56 intronic rs2292460 PIK3C2B AU NM_002646 exon16 c.19311+9G>A 0.561502 0.3869 0.692680 0.7081 0.3514 Uncertain 1_204418198_T->C 1 204418198 204418198 T C snp 99.28 1/1 9 3 0 3 1.0 intronic rs2271427 PIK3C2B AU NM_002646 exon20 c.24333-114T>C 0.672923 0.5685 Uncertain 1_204418364_G->A 1 204418364 204418364 G A snp 854.77 0/1 99 71 33 38 0.54 exonic rs17847754 PIK3C2B AU synonymous SNV NM_002646 exon15 c.C2295T p.S765S 0.0355431 0.1052 0.007996 0.0193 0.1399 Uncertain 1_204418645_C->T 1 204418645 204418645 C T snp 56.74 1/1 6 2 0 2 1.0 intronic rs3014636 PIK3C2B AU NM_002646 exon20 c.24445+221C>T 0.865216 0.9216 Uncertain 1_204418889_C->T 1 204418889 204418889 C T snp 250.8 1/1 21 8 0 8 1.0 intronic rs2999492 PIK3C2B AU NM_002646 exon21 c.24998-88C>T 0.61861 0.4911 Uncertain 1_204418939_C->T 1 204418939 204418939 C T snp 248.77 0/1 99 20 10 10 0.5 intronic rs3014637 PIK3C2B AU NM_002646 exon21 c.24998-38C>T 0.557907 0.3859 0.687779 0.7174 0.3653 Uncertain 1_204425028_G->A 1 204425028 204425028 G A snp 1332.77 0/1 99 116 57 59 0.51 exonic rs3765156 PIK3C2B AU synonymous SNV NM_002646 exon12 c.C1899T p.F633F 0.203275 0.3998 0.138936 0.1914 0.4051 Uncertain 1_204426295_A->G 1 204426295 204426295 A G snp 641.77 0/1 99 61 31 30 0.49 intronic rs1008833 PIK3C2B AU NM_002646 exon24 c.32219+97A>G 0.168131 0.373 Uncertain 1_204426373_C->T 1 204426373 204426373 C T snp 221.77 0/1 99 18 10 8 0.44 intronic rs2137255 PIK3C2B AU NM_002646 exon24 c.32219+175C>T 0.205471 0.3998 Uncertain 1_204428998_G->C 1 204428998 204428998 G C snp 148.77 0/1 99 20 12 8 0.4 intronic rs17847745 PIK3C2B AU NM_002646 exon26 c.35026-7G>C 0.0367412 0.1022 0.008765 0.0176 0.1271 Uncertain 1_204429212_A->T 1 204429212 204429212 A T snp 140.77 0/1 99 18 13 5 0.28 intronic rs5013460 PIK3C2B AU NM_002646 exon26 c.35090+143A>T 0.887181 0.8968 Uncertain 1_204429213_T->G 1 204429213 204429213 T G snp 140.77 0/1 99 18 13 5 0.28 intronic rs5013459 PIK3C2B AU NM_002646 exon26 c.35090+144T>G 0.887181 0.8968 Uncertain 1_204429215_T->A 1 204429215 204429215 T A snp 140.77 0/1 99 18 13 5 0.28 intronic rs5013458 PIK3C2B AU NM_002646 exon26 c.35090+146T>A 0.887181 0.8968 Uncertain 1_204429216_A->G 1 204429216 204429216 A G snp 138.77 0/1 99 18 13 5 0.28 intronic rs5013457 PIK3C2B AU NM_002646 exon26 c.35090+147A>G 0.887181 0.8968 Uncertain 1_204429285_A->G 1 204429285 204429285 A G snp 129.03 1/1 12 5 0 5 1.0 intronic rs2999485 PIK3C2B AU NM_002646 exon27 c.35472-166A>G 0.925519 1 Uncertain 1_204429801_G->A 1 204429801 204429801 G A snp 412.77 0/1 99 39 21 18 0.46 intronic rs2271413 PIK3C2B AU NM_002646 exon28 c.35810+12G>A 0.0299521 0.1012 0.003076 0.0158 0.1260 Uncertain 1_204429838_C->G 1 204429838 204429838 C G snp 491.77 0/1 99 37 17 20 0.54 intronic rs2271414 PIK3C2B AU NM_002646 exon28 c.35810+49C>G 0.764377 0.8224 0.820160 0.9138 0.7964 Uncertain 1_204433511_-->C 1 204433511 204433511 - C indel 768.73 1/1 57 19 0 19 1.0 intronic rs11455991 PIK3C2B AU NM_002646 exon30 c.39598-66insC 0.915535 0.999 Uncertain 1_204434277_T->C 1 204434277 204434277 T C snp 569.77 1/1 42 20 0 20 1.0 intronic rs2942149 PIK3C2B AU NM_002646 exon31 c.40367-69T>C 0.915535 0.999 Uncertain 1_204434325_-->CT 1 204434325 204434325 - CT indel 1991.73 1/1 99 40 0 40 1.0 intronic rs58247897 PIK3C2B AU NM_002646 exon31 c.40367-21insCT 0.341653 0.5754 0.231033 0.2543 0.6100 Uncertain 1_204434326_A->G 1 204434326 204434326 A G snp 1032.77 1/1 81 41 0 41 1.0 intronic rs17847779 PIK3C2B AU NM_002646 exon31 c.40367-20A>G 0.341653 0.5754 0.2544 0.6103 Uncertain 1_204436066_G->A 1 204436066 204436066 G A snp 718.77 0/1 99 59 29 30 0.51 intronic rs16853773 PIK3C2B AU NM_002646 exon31 c.40468+1619G>A 0.203674 0.3978 0.143630 0.1973 0.3994 0 D 1.0 P -1.039 T Uncertain 1_204436076_C->A 1 204436076 204436076 C A snp 596.77 0/1 99 55 29 26 0.47 intronic rs556503299 PIK3C2B AU NM_002646 exon31 c.40468+1629C>A 0.000399361 0.002 0.0004 0.0061 Uncertain 1_204438334_C->T 1 204438334 204438334 C T snp 1405.77 0/1 99 121 61 60 0.5 exonic rs1124777 PIK3C2B AU synonymous SNV NM_002646 exon3 c.G597A p.P199P 0.728035 0.8194 0.776718 0.8916 0.7845 Uncertain 1_204438643_G->T 1 204438643 204438643 G T snp 1449.77 0/1 99 127 63 64 0.5 exonic rs1553921 PIK3C2B AU synonymous SNV NM_002646 exon3 c.C288A p.L96L 0.727236 0.8194 0.776257 0.8903 0.7835 Uncertain 1_204501383_C->T 1 204501383 204501383 C T snp 2362.77 0/1 99 234 131 103 0.44 intronic rs4252697 MDM4 AU NM_001204171 exon5 c.6728+9C>T 0.198083 0.4018 0.155697 0.1897 0.3852 Uncertain 1_204506107_C->T 1 204506107 204506107 C T snp 402.77 0/1 99 53 33 20 0.38 intronic rs4245738 MDM4 AU NM_001204171 exon6 c.11911-450C>T 0.551518 0.7024 Uncertain 1_204506175_T->- 1 204506175 204506175 T - indel 484.73 0/1 99 37 20 17 0.46 intronic rs398089823 MDM4 AU NM_001204171 exon6 c.11911-382delT 0.196685 0.4008 Uncertain 1_204512100_T->C 1 204512100 204512100 T C snp 327.77 0/1 99 27 16 11 0.41 intronic rs4252717 MDM4 AU NM_001204171 exon8 c.17426+28T>C 0.535144 0.7024 0.541519 0.6420 0.6838 Uncertain 1_204515863_C->T 1 204515863 204515863 C T snp 734.77 0/1 99 49 25 24 0.49 intronic rs2290855 MDM4 AU NM_001204171 exon9 c.21278-61C>T 0.536741 0.7024 Uncertain 1_204516025_A->G 1 204516025 204516025 A G snp 3126.77 0/1 99 250 128 122 0.49 intronic rs2290854 MDM4 AU NM_001204171 exon9 c.21359+20A>G 0.539337 0.7024 0.553591 0.6451 0.6842 Uncertain 1_204518842_C->A 1 204518842 204518842 C A snp 1700.77 1/1 99 56 0 56 1.0 UTR3 rs4245739 MDM4 AU 0.785942 0.9504 0.767792 0.7694 0.9673 ID=CR108921;DIS=Ovarian cancer, delayed progression, association with;TAG=DFP;PUB=21084273 DFP Uncertain 1_204586812_C->T 1 204586812 204586812 C T snp 134.03 1/1 12 4 0 4 1.0 UTR3 rs3789045 LRRN2 AU 0.184305 0.3075 Uncertain 1_204587047_G->A 1 204587047 204587047 G A snp 1658.77 1/1 99 60 0 60 1.0 exonic rs11588857 LRRN2 AU nonsynonymous SNV NM_201630 exon2 c.C2074T p.P692S 0.184305 0.3075 0.168307 0.1990 0.3198 0.68 T 0.775 P -1.043 T 0.047 T 0.025 T Pathogenic 1_204587569_G->C 1 204587569 204587569 G C snp 6507.77 1/1 99 232 0 232 1.0 exonic rs3747631 LRRN2 AU nonsynonymous SNV NM_201630 exon2 c.C1552G p.L518V 0.184704 0.3095 0.168614 0.1991 0.3215 0.52 T 0.000 P -1.011 T 0.001 T 0.001 T Pathogenic 1_204588140_G->A 1 204588140 204588140 G A snp 6786.77 1/1 99 228 0 228 1.0 exonic rs3747630 LRRN2 AU synonymous SNV NM_201630 exon2 c.C981T p.H327H 0.210663 0.3234 0.199523 0.2313 0.3376 Uncertain 1_204589101_G->A 1 204589101 204589101 G A snp 2380.77 1/1 99 84 0 84 1.0 exonic rs3789044 LRRN2 AU nonsynonymous SNV NM_201630 exon2 c.C20T p.P7L 0.178714 0.3085 0.167104 0.2357 0.3478 0.53 T 0.0 P -0.940 T 0.005 T 0.006 T Pathogenic 1_204931137_A->G 1 204931137 204931137 A G snp 1095.77 0/1 99 100 57 43 0.43 intronic rs16854813 NFASC AU NM_001160331 exon6 c.17792-98A>G 0.141374 0.0873 Uncertain 1_204943121_C->T 1 204943121 204943121 C T snp 50.74 1/1 6 2 0 2 1.0 intronic rs2802807 NFASC AU NM_001160331 exon11 c.29863-185C>T 0.915136 0.995 Uncertain 1_204943285_A->T 1 204943285 204943285 A T snp 4243.77 1/1 99 156 0 156 1.0 intronic rs2595945 NFASC AU NM_001160331 exon11 c.29863-21A>T 0.915136 0.995 0.914655 0.9724 0.9944 Uncertain 1_204943947_C->A 1 204943947 204943947 C A snp 1820.77 1/1 99 60 0 60 1.0 exonic rs2246662 NFASC AU synonymous SNV NM_015090 exon14 c.C1587A p.V529V 0.467652 0.6716 0.330309 0.4538 0.6795 1.0 P Uncertain 1_204943991_C->T 1 204943991 204943991 C T snp 858.77 1/1 63 27 0 27 1.0 intronic rs2246661 NFASC AU NM_001160331 exon12 c.30508+40C>T 0.511981 0.6875 0.307243 0.4675 0.6946 Uncertain 1_204943992_A->G 1 204943992 204943992 A G snp 863.77 1/1 63 27 0 27 1.0 intronic rs2794861 NFASC AU NM_001160331 exon12 c.30508+41A>G 0.927915 0.995 0.926649 0.9746 0.9948 Uncertain 1_204962718_A->G 1 204962718 204962718 A G snp 50.74 1/1 6 2 0 2 1.0 intronic rs2841628 NFASC AU NM_001160331 exon24 c.46991+2284A>G 0.998203 1 Uncertain 1_204966428_C->G 1 204966428 204966428 C G snp 2894.77 0/1 99 203 79 124 0.61 intronic rs2802808 NFASC AU NM_001005388 exon25 c.53091-106C>G 0.310503 0.4345 0.263020 0.3431 0.4864 0.07 T 0.765 P -1.018 T 0.223 T 0.027 T Uncertain 1_204966690_G->A 1 204966690 204966690 G A snp 2918.77 1/1 99 94 0 94 1.0 intronic rs2794858 NFASC AU NM_001005388 exon25 c.53091+156G>A 0.901158 0.999 0.9502 1 Uncertain 1_204966749_A->G 1 204966749 204966749 A G snp 1119.77 1/1 84 37 0 37 1.0 intronic rs2595944 NFASC AU NM_001005388 exon25 c.53091+215A>G 0.860823 0.9345 0.8364 0.9145 Uncertain 1_205022191_C->G 1 205022191 205022191 C G snp 88.28 1/1 9 3 0 3 1.0 intronic rs16855008 CNTN2 AR 0.115615 0.121 Uncertain 1_205028581_C->G 1 205028581 205028581 C G snp 2049.77 1/1 99 67 0 67 1.0 intronic rs2305278 CNTN2 AR NM_005076 exon7 c.6397-129C>G 0.23103 0.3948 Uncertain 1_205030817_C->T 1 205030817 205030817 C T snp 143.03 1/1 12 5 0 5 1.0 intronic rs41264867 CNTN2 AR NM_005076 exon9 c.8679-175C>T 0.185304 0.3869 Uncertain 1_205030862_C->T 1 205030862 205030862 C T snp 390.77 1/1 30 12 0 12 1.0 intronic rs41264869 CNTN2 AR NM_005076 exon9 c.8679-130C>T 0.23123 0.3948 Uncertain 1_205031116_C->T 1 205031116 205031116 C T snp 4430.77 1/1 99 166 0 166 1.0 exonic rs2229866 CNTN2 AR nonsynonymous SNV NM_005076 exon9 c.C1097T p.P366L 0.551118 0.876 0.341052 0.4754 0.8797 0.03 T 1.000 P -0.957 T 0.029 T 0.023 T Pathogenic 1_205031449_A->G 1 205031449 205031449 A G snp 123.03 1/1 12 5 0 5 1.0 intronic rs7545698 CNTN2 AR NM_005076 exon10 c.9254-118A>G 1 1 Uncertain 1_205031744_G->A 1 205031744 205031744 G A snp 3479.77 1/1 99 135 0 135 1.0 intronic rs2242001 CNTN2 AR NM_005076 exon10 c.9384+47G>A 0.232029 0.3958 0.152622 0.2071 0.4034 Uncertain 1_205031769_G->A 1 205031769 205031769 G A snp 3129.77 1/1 99 128 0 128 1.0 intronic rs2242000 CNTN2 AR NM_005076 exon10 c.9384+72G>A 0.232029 0.3958 Uncertain 1_205033283_G->A 1 205033283 205033283 G A snp 629.77 1/1 48 17 0 17 1.0 intronic rs1470637 CNTN2 AR NM_005076 exon11 c.11136-166G>A 0.60623 0.9454 Uncertain 1_205033374_T->C 1 205033374 205033374 T C snp 2341.77 1/1 99 85 0 85 1.0 intronic rs2305277 CNTN2 AR NM_005076 exon11 c.11136-75T>C 0.557109 0.876 Uncertain 1_205034488_A->G 1 205034488 205034488 A G snp 1657.77 1/1 99 53 0 53 1.0 intronic rs4460698 CNTN2 AR NM_005076 exon13 c.12077+98A>G 0.444688 0.8542 Uncertain 1_205038731_C->T 1 205038731 205038731 C T snp 2047.77 1/1 99 72 0 72 1.0 intronic rs2305275 CNTN2 AR NM_005076 exon17 c.16376+42C>T 0.579473 0.501 0.644549 0.6556 0.4979 Uncertain 1_205039295_A->C 1 205039295 205039295 A C snp 2379.77 1/1 99 78 0 78 1.0 intronic rs56283998 CNTN2 AR NM_005076 exon18 c.16876+106A>C 0.252196 0.3829 Uncertain 1_205041542_T->C 1 205041542 205041542 T C snp 583.77 1/1 45 17 0 17 1.0 intronic rs3903399 CNTN2 AR NM_005076 exon21 c.19297-68T>C 0.269369 0.4335 Uncertain 1_205042583_C->T 1 205042583 205042583 C T snp 242.8 1/1 21 8 0 8 1.0 intronic rs1002926 CNTN2 AR NM_005076 exon23 c.20470-200C>T 0.238019 0.379 Uncertain 1_205052939_G->A 1 205052939 205052939 G A snp 3422.77 1/1 99 126 0 126 1.0 exonic rs4950979 TMEM81 AU synonymous SNV NM_203376 exon1 c.C510T p.L170L 0.798722 0.9762 0.757343 0.8548 0.9711 Uncertain 1_205053219_C->T 1 205053219 205053219 C T snp 3053.77 1/1 99 107 0 107 1.0 exonic rs4951168 TMEM81 AU nonsynonymous SNV NM_203376 exon1 c.G230A p.R77Q 0.817292 0.9762 0.775104 0.8644 0.9711 0.87 T 0.000 P -0.964 T 0.0 T 0.0 T Pathogenic 1_205070573_G->A 1 205070573 205070573 G A snp 249.8 1/1 21 8 0 8 1.0 intronic rs11240358 RBBP5 AU NM_001193273 exon9 c.12813-154G>A 0.515176 0.9107 Uncertain 1_205085358_T->C 1 205085358 205085358 T C snp 96.28 1/1 9 3 0 3 1.0 intronic rs12025836 RBBP5 AU NM_001193273 exon13 c.27097+347T>C 0.242612 0.3938 Uncertain 1_205129319_G->A 1 205129319 205129319 G A snp 1463.77 1/1 99 58 0 58 1.0 exonic rs1062715 DSTYK AD synonymous SNV NM_015375 exon8 c.C2028T p.F676F 0.371406 0.4008 0.285637 0.3010 0.4131 Uncertain 1_205130413_A->G 1 205130413 205130413 A G snp 2127.77 1/1 99 79 0 79 1.0 exonic rs3851294 DSTYK AD nonsynonymous SNV NM_015375 exon7 c.T1921C p.C641R 0.961062 1 0.930186 0.9317 1 0.86 T 1.0 P -0.948 T 0.0 T 0.0 T Pathogenic 1_205131059_-->AC 1 205131059 205131059 - AC indel 167.74 0/1 27 6 1 5 0.83 intronic rs10631913 DSTYK AD NM_015375 exon8 c.14478-104insAC 0.928315 0.999 Uncertain 1_205240913_A->G 1 205240913 205240913 A G snp 966.77 1/1 72 25 0 25 1.0 intronic rs9659978 TMCC2 AU NM_001242925 exon5 c.30281-27A>G 0.961661 1 0.931186 0.9327 1 Uncertain 1_205272926_C->T 1 205272926 205272926 C T snp 2433.77 0/1 99 207 105 102 0.49 exonic rs1106201 NUAK2 AU synonymous SNV NM_030952 exon7 c.G1671A p.L557L 0.323083 0.4603 0.250231 0.3383 0.4829 Uncertain 1_205272983_C->G 1 205272983 205272983 C G snp 2799.77 0/1 99 242 120 122 0.5 exonic rs1106202 NUAK2 AU synonymous SNV NM_030952 exon7 c.G1614C p.L538L 0.322484 0.4603 0.249039 0.3353 0.4816 Uncertain 1_205274174_A->G 1 205274174 205274174 A G snp 342.77 0/1 90 14 4 10 0.71 intronic rs10793728 NUAK2 AU NM_030952 exon2 c.1749-152A>G 0.644968 0.496 Uncertain 1_205275206_A->T 1 205275206 205275206 A T snp 1128.77 1/1 81 43 0 43 1.0 intronic rs4951195 NUAK2 AU NM_030952 exon3 c.2738-109A>T 0.984824 1 Uncertain 1_205275207_G->T 1 205275207 205275207 G T snp 1148.77 1/1 84 43 0 43 1.0 intronic rs4951196 NUAK2 AU NM_030952 exon3 c.2738-108G>T 0.984625 0.999 Uncertain 1_205275421_A->G 1 205275421 205275421 A G snp 1699.77 1/1 99 64 0 64 1.0 exonic rs4951197 NUAK2 AU synonymous SNV NM_030952 exon5 c.T717C p.G239G 0.979233 1 0.979471 0.9938 1 Uncertain 1_205306590_G->A 1 205306590 205306590 G A snp 317.77 0/1 99 27 14 13 0.48 exonic rs3210952 KLHDC8A AU synonymous SNV NM_018203 exon6 c.C990T p.A330A 0.178514 0.3383 0.138936 0.1845 0.3330 Uncertain 1_205312280_C->G 1 205312280 205312280 C G snp 458.77 0/1 99 36 22 14 0.39 intronic rs7549293 KLHDC8A AU NM_001271864 exon5 c.5830-76C>G 0.624002 0.6448 Uncertain 1_205312767_G->T 1 205312767 205312767 G T snp 541.77 0/1 99 34 15 19 0.56 UTR5 rs7526603 KLHDC8A AU 0.319289 0.3522 0.316145 0.3997 0.3865 Uncertain 1_205325458_G->A 1 205325458 205325458 G A snp 68.77 0/1 97 8 5 3 0.38 intronic rs2298251 KLHDC8A AU NM_001271864 exon6 c.19134-202G>A 0.277157 0.4931 Uncertain 1_205385498_C->T 1 205385498 205385498 C T snp 4820.77 1/1 99 182 0 182 1.0 intronic rs6688045 LEMD1 AU NM_001199050 exon3 c.34639+74C>T 0.810104 0.999 Uncertain 1_205492679_G->A 1 205492679 205492679 G A snp 2168.77 0/1 99 179 81 98 0.55 exonic rs4623769 CDK18 AU nonsynonymous SNV NM_002596 exon3 c.G199A p.G67R 0.100439 0.0407 0.078789 0.1152 0.0612 0.38 T 0.000 P -1.047 T 0.048 T 0.014 T Pathogenic 1_205492756_A->G 1 205492756 205492756 A G snp 3630.77 1/1 99 128 0 128 1.0 exonic;splicing rs7529442 CDK18;CDK18 UN synonymous SNV NM_212503 exon3 c.A276G p.V92V 0.921326 0.7659 0.959382 0.9521 0.7608 Uncertain 1_205493545_C->T 1 205493545 205493545 C T snp 346.77 0/1 99 46 32 14 0.3 intronic rs41264889 CDK18 AU NM_212502 exon4 c.1190+60C>T 0.0878594 0.1111 Uncertain 1_205494411_G->A 1 205494411 205494411 G A snp 660.77 0/1 99 50 27 23 0.46 intronic rs41310919 CDK18 AU NM_212502 exon5 c.2028+88G>A 0.0952476 0.0407 Uncertain 1_205495392_A->G 1 205495392 205495392 A G snp 6007.77 1/1 99 194 0 194 1.0 intronic rs2297837 CDK18 AU NM_212502 exon6 c.3012+85A>G 0.896765 0.7639 Uncertain 1_205495976_A->G 1 205495976 205495976 A G snp 4545.77 1/1 99 166 0 166 1.0 intronic rs1544154 CDK18 AU NM_212502 exon8 c.3670+11A>G 1 1 0.999846 1.0000 1 Uncertain 1_205497066_G->A 1 205497066 205497066 G A snp 966.77 0/1 99 90 49 41 0.46 intronic rs2297836 CDK18 AU NM_212502 exon9 c.4750+21G>A 0.15615 0.0625 0.123789 0.1209 0.0610 Uncertain 1_205498021_T->C 1 205498021 205498021 T C snp 297.77 0/1 99 16 6 10 0.63 intronic rs7531230 CDK18 AU NM_212502 exon11 c.5831-105T>C 0.636182 0.5 Uncertain 1_205498843_G->T 1 205498843 205498843 G T snp 2497.77 0/1 99 247 141 106 0.43 intronic rs45479796 CDK18 AU NM_212502 exon13 c.6396+152G>T 0.122404 0.1012 0.0929 0.1239 Uncertain 1_205499577_C->G 1 205499577 205499577 C G snp 357.77 0/1 99 35 21 14 0.4 intronic rs6668356 CDK18 AU NM_212502 exon14 c.7182+100C>G 0.569089 0.4464 Uncertain 1_205555145_G->A 1 205555145 205555145 G A snp 176.9 1/1 15 5 0 5 1.0 intronic rs7531623 MFSD4 AU NM_181644 exon6 c.16964-16G>A 0.417931 0.2143 0.460557 0.4311 0.1984 Uncertain 1_205561495_TCTT->- 1 205561495 205561498 TCTT - indel 202.73 0/1 99 17 10 7 0.41 intronic rs111772304 MFSD4 AU NM_181644 exon7 c.23218+80_23218+83delTCTT Uncertain 1_205568213_C->T 1 205568213 205568213 C T snp 1243.77 0/1 99 113 54 59 0.52 intronic rs2282449 MFSD4 AU NM_181644 exon9 c.30061-45C>T 0.353235 0.6399 0.197447 0.2864 0.6229 Uncertain 1_205568390_T->A 1 205568390 205568390 T A snp 639.77 0/1 99 94 60 34 0.36 intronic rs2282450 MFSD4 AU NM_181644 exon9 c.30182+11T>A 0.44389 0.6458 0.296479 0.3333 0.6277 Uncertain 1_205568438_G->T 1 205568438 205568438 G T snp 419.77 0/1 99 38 21 17 0.45 intronic rs2282451 MFSD4 AU NM_181644 exon9 c.30182+59G>T 0.351438 0.6399 Uncertain 1_205589574_C->T 1 205589574 205589574 C T snp 2645.77 0/1 99 213 96 117 0.55 exonic rs1064406 ELK4 AU synonymous SNV NM_001973 exon3 c.G600A p.P200P 0.195887 0.37 0.104106 0.1306 0.3451 Uncertain 1_205615947_C->A 1 205615947 205615947 C A snp 485.77 1/1 36 15 0 15 1.0 intergenic rs4951250 ELK4 AU 0.897364 0.999 0.5469 0.5339 Uncertain 1_205630893_A->G 1 205630893 205630893 A G snp 441.77 0/1 99 39 22 17 0.44 intronic rs3761916 SLC45A3 AU NM_033102 exon2 c.2627-95A>G 0.347444 0.4504 Uncertain 1_205632218_GCCGACAGCCCTTCTGCTGGCTCGGTGGGGCCCAGC->- 1 205632218 205632253 GCCGACAGCCCTTCTGCTGGCTCGGTGGGGCCCAGC - indel 7648.73 0/1 99 61 28 33 0.54 exonic rs71152447 SLC45A3 AU nonframeshift deletion NM_033102 exon3 c.666_701del p.222_234del 0.034345 0.0903 0.0223 0.0914 ID=COSM111686;OCCURENCE=1(lung),1(endometrium),1(ovary) Uncertain 1_205696671_G->A 1 205696671 205696671 G A snp 249.77 0/1 99 19 11 8 0.42 intronic rs1772147 NUCKS1 AU NM_022731 exon5 c.9420-156G>A 0.822684 0.8522 Uncertain 1_205739396_T->G 1 205739396 205739396 T G snp 1054.77 0/1 99 96 48 48 0.5 UTR3 rs823139 RAB29 AU 0.721046 0.8462 Uncertain 1_205741816_A->T 1 205741816 205741816 A T snp 74.77 0/1 99 7 4 3 0.43 intronic rs823142 RAB29 AU NM_001135664 exon4 c.2226+121A>T 0.823882 0.8542 Uncertain 1_205744218_C->T 1 205744218 205744218 C T snp 739.77 0/1 99 64 30 34 0.53 splicing rs1572931 RAB29 AU NM_001135662 exon5 c.4745+4C>T 0.208866 0.3423 ID=CR120222;DIS=Parkinson disease, reduced risk, association with;TAG=DP;PUB=22232350 DP Pathogenic 1_205764640_G->A 1 205764640 205764640 G A snp 920.77 0/1 99 63 25 38 0.6 intronic rs823156 SLC41A1 AU NM_173854 exon3 c.3946+34G>A 0.649161 0.755 0.684146 0.7681 0.7961 Uncertain 1_205766160_A->- 1 205766160 205766160 A - indel 2295.73 0/1 99 118 51 67 0.57 intronic rs397982731 SLC41A1 AU NM_173854 exon4 c.5471+29delA 0.723842 0.756 0.790449 0.8381 0.7978 Uncertain 1_205798033_G->A 1 205798033 205798033 G A snp 197.8 0/1 21 7 1 6 0.86 intronic rs823085 PM20D1 AU NM_152491 exon1 c.124+162G>A 0.783347 0.7649 Uncertain 1_205809642_G->C 1 205809642 205809642 G C snp 158.77 0/1 99 8 3 5 0.63 intronic rs10900525 PM20D1 AU NM_152491 exon4 c.11704+191G>C 0.481829 0.3313 Uncertain 1_205810947_C->T 1 205810947 205810947 C T snp 530.77 0/1 99 67 42 25 0.37 exonic rs11240573 PM20D1 AU nonsynonymous SNV NM_152491 exon9 c.G1036A p.G346R 0.118211 0.2113 0.078680 0.1200 0.3192 0.04 T 1.000 P -0.933 T 0.935 T 0.816 D Pathogenic 1_205811828_A->T 1 205811828 205811828 A T snp 1519.77 0/1 99 150 78 72 0.48 exonic rs4951025 PM20D1 AU synonymous SNV NM_152491 exon7 c.T879A p.T293T 0.284545 0.2917 0.212825 0.1976 0.2779 Uncertain 1_205814497_T->C 1 205814497 205814497 T C snp 2511.77 0/1 99 249 138 111 0.45 exonic rs1891460 PM20D1 AU nonsynonymous SNV NM_152491 exon3 c.A445G p.I149V 0.838458 0.7411 0.924958 0.8833 0.7406 0.37 T 0.0 P -1.026 T 0.0 T 0.0 T Pathogenic 1_205814695_A->G 1 205814695 205814695 A G snp 980.77 0/1 99 83 40 43 0.52 intronic rs71633564 PM20D1 AU NM_152491 exon11 c.16938+10A>G 0.160543 0.4206 0.072505 0.1100 0.4415 Uncertain 1_205817018_T->C 1 205817018 205817018 T C snp 400.77 0/1 99 28 13 15 0.54 exonic rs11540015 PM20D1 AU nonsynonymous SNV NM_152491 exon2 c.A251G p.H84R 0.155551 0.3978 0.067063 0.1082 0.4299 0.61 T 0.0 P -0.930 T 0.0 T 0.0 T Pathogenic 1_205819039_C->T 1 205819039 205819039 C T snp 1978.77 0/1 99 242 147 95 0.39 exonic rs11540016 PM20D1 AU synonymous SNV NM_152491 exon1 c.G162A p.A54A 0.160144 0.4246 0.070121 0.1087 0.4421 Uncertain 1_205819104_G->A 1 205819104 205819104 G A snp 2526.77 0/1 99 246 137 109 0.44 exonic rs11540014 PM20D1 AU nonsynonymous SNV NM_152491 exon1 c.C97T p.H33Y 0.160942 0.4266 0.070275 0.1076 0.4409 1 T 0.0 P -0.926 T 0.0 T 0.0 T Pathogenic 1_205883890_G->C 1 205883890 205883890 G C snp 152.77 0/1 98 9 3 6 0.67 UTR3 rs11240589 SLC26A9 AU 0.116613 0.4494 Uncertain 1_205886381_C->T 1 205886381 205886381 C T snp 2784.77 1/1 99 111 0 111 1.0 intronic rs11240591 SLC26A9 AU NM_052934 exon2 c.1926-29C>T 0.21885 0.5357 0.092188 0.1574 0.5637 Uncertain 1_205888143_G->C 1 205888143 205888143 G C snp 2429.77 1/1 99 82 0 82 1.0 intronic rs11240593 SLC26A9 AU NM_052934 exon3 c.3629+30G>C 0.218051 0.5347 0.092573 0.1581 0.5644 Uncertain 1_205888272_T->C 1 205888272 205888272 T C snp 139.03 1/1 12 4 0 4 1.0 intronic rs7366689 SLC26A9 AU NM_052934 exon3 c.3629+159T>C 0.904153 0.8869 Uncertain 1_205890679_T->C 1 205890679 205890679 T C snp 2611.77 1/1 99 100 0 100 1.0 intronic rs12759719 SLC26A9 AU NM_052934 exon5 c.6209-14T>C 0.914137 0.8849 0.904275 0.9150 0.9235 Uncertain 1_205892411_T->C 1 205892411 205892411 T C snp 3660.77 1/1 99 126 0 126 1.0 intronic rs3811427 SLC26A9 AU NM_052934 exon7 c.7978-51T>C 0.212061 0.5516 0.081262 Uncertain 1_205892415_C->T 1 205892415 205892415 C T snp 3590.77 1/1 99 125 0 125 1.0 intronic rs3811426 SLC26A9 AU NM_052934 exon7 c.7978-47C>T 0.21226 0.5516 0.079194 0.1479 0.5733 Uncertain 1_205893699_T->C 1 205893699 205893699 T C snp 1781.77 1/1 99 65 0 65 1.0 intronic rs9438402 SLC26A9 AU NM_052934 exon9 c.9133+82T>C 0.213458 0.5575 Uncertain 1_205893754_T->- 1 205893754 205893754 T - indel 846.73 1/1 72 28 0 28 1.0 intronic rs34907090 SLC26A9 AU NM_052934 exon9 c.9133+137delT 0.292332 0.5585 Uncertain 1_205896235_G->A 1 205896235 205896235 G A snp 796.77 1/1 57 28 0 28 1.0 intronic rs11240594 SLC26A9 AU NM_052934 exon11 c.11854-103G>A 0.288339 0.5585 Uncertain 1_205896475_C->T 1 205896475 205896475 C T snp 1733.77 1/1 99 61 0 61 1.0 intronic rs7366204 SLC26A9 AU NM_052934 exon11 c.11932+59C>T 0.870607 0.8879 Uncertain 1_205897876_C->T 1 205897876 205897876 C T snp 4876.77 1/1 99 190 0 190 1.0 intronic rs12568779 SLC26A9 AU NM_052934 exon14 c.13470-78C>T 0.210463 0.5675 Uncertain 1_205898638_C->T 1 205898638 205898638 C T snp 99.28 1/1 9 3 0 3 1.0 intronic rs16856494 SLC26A9 AU NM_052934 exon15 c.14000+154C>T 0.285942 0.6746 Uncertain 1_205899311_T->A 1 205899311 205899311 T A snp 1413.77 1/1 99 37 0 37 1.0 intronic rs9438405 SLC26A9 AU NM_052934 exon16 c.14700+127T>A 0.282548 0.6419 Uncertain 1_205901287_T->A 1 205901287 205901287 T A snp 395.77 1/1 33 11 0 11 1.0 intronic rs11240596 SLC26A9 AU NM_052934 exon17 c.16679+124T>A 0.26258 0.6667 Uncertain 1_205901788_G->T 1 205901788 205901788 G T snp 215.84 1/1 18 8 0 8 1.0 intronic rs3811423 SLC26A9 AU NM_052934 exon18 c.17345-41G>T 0.454073 0.6667 0.377518 0.3365 0.6811 Uncertain 1_206516261_C->T 1 206516261 206516261 C T snp 1358.77 0/1 99 240 148 92 0.38 exonic rs201036189 SRGAP2 AU unknown 0.4997 0.4998 0 D 1.000 D -0.227 T Uncertain 1_206566048_G->C 1 206566048 206566048 G C snp 528.77 0/1 99 132 81 51 0.39 exonic rs782625719 SRGAP2 AU unknown 0.0002 0.0003 -0.881 T Uncertain 1_206566195_C->T 1 206566195 206566195 C T snp 215.77 0/1 99 248 206 42 0.17 exonic rs12090039 SRGAP2 AU unknown 0.3004 0.3907 0.723 N -0.659 T Uncertain 1_206566861_A->- 1 206566861 206566861 A - indel 281.73 0/1 99 47 30 17 0.36 intronic rs11361942 SRGAP2 AU NM_015326 exon4 c.50702-40delA 0.156278 0.2017 0.1848 Uncertain 1_206566903_G->A 1 206566903 206566903 G A snp 417.77 0/1 99 212 180 32 0.15 exonic rs2987927 SRGAP2 AU unknown 0.000599042 0.0100 0.0105 0 D 1.000 D -0.212 T 1.0 D 0.996 D Uncertain 1_206566904_T->C 1 206566904 206566904 T C snp 2962.77 0/1 99 215 100 115 0.53 exonic rs2919105 SRGAP2 AU unknown 0.494409 0.4851 0.4997 0.4993 -0.830 T Uncertain 1_206567100_C->T 1 206567100 206567100 C T snp 1963.77 0/1 99 209 132 77 0.37 intronic rs2480377 SRGAP2 AU NM_015326 exon4 c.50831+70C>T Uncertain 1_206567165_T->A 1 206567165 206567165 T A snp 115.77 0/1 99 59 51 8 0.14 intronic rs2480376 SRGAP2 AU NM_015326 exon4 c.50831+135T>A Uncertain 1_206579798_T->C 1 206579798 206579798 T C snp 82.85 0/1 17 250 139 111 0.44 exonic rs200703951 SRGAP2 AU unknown 0.5006 0.5013 0.711 P Uncertain 1_206579936_A->G 1 206579936 206579936 A G snp 932.77 0/1 99 244 169 75 0.31 exonic;splicing rs2772061 SRGAP2B AU unknown 0.4919 0.4953 Uncertain 1_206580084_C->G 1 206580084 206580084 C G snp 331.77 0/1 89 16 4 12 0.75 UTR3 rs2772060 SRGAP2C AU Uncertain 1_206603535_G->A 1 206603535 206603535 G A snp 4708.77 1/1 99 186 0 186 1.0 exonic rs2297539 SRGAP2 AU unknown 0.52496 0.7024 0.436899 0.4929 0.7109 0.711 P -0.990 T Uncertain 1_206646427_C->A 1 206646427 206646427 C A snp 697.77 0/1 99 47 22 25 0.53 intronic rs1930437 IKBKE AU 0.376797 0.3323 Uncertain 1_206647742_A->G 1 206647742 206647742 A G snp 4827.77 1/1 99 179 0 179 1.0 exonic rs1539242 IKBKE AU synonymous SNV NM_014002 exon4 c.A156G p.Q52Q 0.999401 1 0.998385 0.9986 1 Uncertain 1_206647787_T->C 1 206647787 206647787 T C snp 4828.77 1/1 99 179 0 179 1.0 exonic rs1539243 IKBKE AU synonymous SNV NM_014002 exon4 c.T201C p.I67I 0.899161 0.9732 0.845917 0.8591 0.9764 Uncertain 1_206648037_C->G 1 206648037 206648037 C G snp 356.78 1/1 27 13 0 13 1.0 intronic rs2297546 IKBKE AU NM_014002 exon5 c.1637-170C>G 0.638379 0.7292 Uncertain 1_206651107_G->A 1 206651107 206651107 G A snp 760.77 0/1 99 64 35 29 0.45 exonic rs2297545 IKBKE AU synonymous SNV NM_014002 exon8 c.G717A p.T239T 0.315495 0.6131 0.194160 0.3248 0.68 Uncertain 1_206651350_C->T 1 206651350 206651350 C T snp 272.77 0/1 99 18 7 11 0.61 intronic rs2297543 IKBKE AU NM_014002 exon8 c.4632+148C>T 0.300919 0.6181 Uncertain 1_206665896_C->G 1 206665896 206665896 C G snp 3233.06 1/1 99 106 0 106 1.0 intronic rs2336940 IKBKE AU NM_014002 exon19 c.19785-459C>G 0.64357 0.5377 0.7818 0.5531 0 D 0.0 P -1.010 T Uncertain 1_206666734_T->G 1 206666734 206666734 T G snp 1120.77 0/1 99 107 61 46 0.43 intronic rs12026566 IKBKE AU NM_014002 exon20 c.20141+23T>G 0.293131 0.244 0.304475 0.2764 0.2564 Uncertain 1_206667441_G->A 1 206667441 206667441 G A snp 1419.77 0/1 99 122 61 61 0.5 intronic rs2184030 IKBKE AU NM_014002 exon21 c.20754+117G>A 0.369209 0.3155 Uncertain 1_206669465_C->T 1 206669465 206669465 C T snp 849.77 0/1 99 91 53 38 0.42 exonic rs3748022 IKBKE AU nonsynonymous SNV NM_014002 exon22 c.C2138T p.P713L 0.148163 0.1935 0.159234 0.1930 0.2130 0.2 T 0.000 P -1.059 T 0.03 T 0.022 T ID=CM136351;DIS=Systemic lupus erythematosus, increased risk, association with;TAG=DP;PUB=23535865 DP Pathogenic 1_206670827_G->T 1 206670827 206670827 G T snp 1388.77 0/1 99 123 62 61 0.5 downstream IKBKE AU 0.429313 0.3383 Uncertain 1_206680983_A->C 1 206680983 206680983 A C snp 1201.77 1/1 87 44 0 44 1.0 exonic RASSF5 AU synonymous SNV NM_182663 exon1 c.A48C p.L16L 0.953674 1 0.888293 0.8806 0.9994 Uncertain 1_206758077_T->A 1 206758077 206758077 T A snp 1366.77 0/1 99 113 55 58 0.51 intronic RASSF5 AU NM_182665 exon3 c.27115+61T>A 0.727436 0.6756 0.7986 0.7184 Uncertain 1_206766846_GTGTGTGTGTGC->- 1 206766846 206766857 GTGTGTGTGTGC - indel 1178.74 1/1 27 9 0 9 1.0 intronic rs371749910 EIF2D AU NM_006893 exon2 c.1861-121_1861-110delGTGTGTGTGTGC Uncertain 1_206770284_C->- 1 206770284 206770284 C - indel 559.73 1/1 51 17 0 17 1.0 intronic rs11284613 EIF2D AU NM_006893 exon4 c.5343-165delC Uncertain 1_206772195_CT->- 1 206772195 206772196 CT - indel 1226.73 1/1 78 26 0 26 1.0 intronic rs373767533 EIF2D AU NM_006893 exon5 c.7250-161_7250-160delCT 0.485823 0.4742 Uncertain 1_206772753_A->G 1 206772753 206772753 A G snp 286.78 1/1 24 8 0 8 1.0 intronic rs4845116 EIF2D AU NM_006893 exon6 c.7710-63A>G 0.763179 0.6577 Uncertain 1_206773659_A->G 1 206773659 206773659 A G snp 4869.77 1/1 99 168 0 168 1.0 exonic rs6662929 EIF2D AU synonymous SNV NM_001201478 exon6 c.T534C p.P178P 0.9998 1 0.999616 1.0000 1 Uncertain 1_206773822_C->T 1 206773822 206773822 C T snp 333.78 1/1 27 9 0 9 1.0 intronic rs6658201 EIF2D AU NM_006893 exon8 c.8556+160C>T 0.485423 0.4752 Uncertain 1_206776200_C->T 1 206776200 206776200 C T snp 626.77 1/1 48 20 0 20 1.0 intronic rs6668054 EIF2D AU NM_006893 exon10 c.11198-104C>T 0.760982 0.6587 Uncertain 1_206776203_T->C 1 206776203 206776203 T C snp 553.77 1/1 42 20 0 20 1.0 intronic rs6675741 EIF2D AU NM_006893 exon10 c.11198-101T>C 0.999401 1 Uncertain 1_206904464_C->T 1 206904464 206904464 C T snp 2492.77 1/1 99 88 0 88 1.0 intronic MAPKAPK2 AU NM_004759 exon7 c.45908-18C>T 0.305911 0.5387 0.275565 0.3197 0.5672 Uncertain 1_206943116_T->C 1 206943116 206943116 T C snp 290.77 0/1 99 31 18 13 0.42 intronic rs5743627 IL10 AU NM_000572 exon2 c.1193-57T>C 0.0119808 0.0327 0.000876 Uncertain 1_206943351_T->C 1 206943351 206943351 T C snp 563.77 1/1 42 20 0 20 1.0 intronic rs3024494 IL10 AU NM_000572 exon2 c.1259+112T>C 0.976837 1 Uncertain 1_207009910_T->C 1 207009910 207009910 T C snp 37.77 0/1 66 4 2 2 0.5 intronic rs2243170 IL19 AU NM_153758 exon2 c.37766-95T>C 0.823882 0.7976 Uncertain 1_207014472_A->C 1 207014472 207014472 A C snp 512.77 0/1 99 53 28 25 0.47 intronic rs2243188 IL19 AU NM_153758 exon5 c.42184+49A>C 0.613818 0.4058 0.713517 0.6920 0.3755 ID=CS105036;DIS=Vitiligo, association with;TAG=DP;PUB=20699607 DP Uncertain 1_207072959_C->T 1 207072959 207072959 C T snp 269.77 0/1 99 14 5 9 0.64 intronic rs1150255 IL24 AU NM_001185157 exon3 c.1683+99C>T 0.309904 0.2123 Uncertain 1_207073491_T->C 1 207073491 207073491 T C snp 145.77 0/1 99 13 7 6 0.46 intronic rs1150257 IL24 AU NM_001185158 exon3 c.2462-148T>C 0.480831 0.2431 Uncertain 1_207074905_T->C 1 207074905 207074905 T C snp 1206.77 0/1 99 123 68 55 0.45 exonic rs1150258 IL24 AU nonsynonymous SNV NM_001185156 exon5 c.T373C p.Y125H 0.315695 0.2123 0.411964 0.3976 0.2157 0.13 T 1.000 P -0.915 T 1.0 D 0.999 D Pathogenic 1_207075171_T->C 1 207075171 207075171 T C snp 588.77 0/1 99 48 26 22 0.46 intronic rs291107 IL24 AU NM_001185158 exon4 c.4165-171T>C 0.48103 0.2431 Uncertain 1_207082909_C->A 1 207082909 207082909 C A snp 262.77 0/1 99 50 36 14 0.28 intronic rs2306713 FAIM3 AU NM_001142473 exon2 c.4502+44C>A 0.0758786 0.0734 0.1364 0.05 Uncertain 1_207082960_C->A 1 207082960 207082960 C A snp 131.77 0/1 99 37 29 8 0.22 intronic rs2306712 FAIM3 AU NM_001142473 exon2 c.4502+95C>A 0.0742812 0.0734 Uncertain 1_207083044_T->G 1 207083044 207083044 T G snp 173.77 0/1 99 25 16 9 0.36 intronic rs2306711 FAIM3 AU NM_001142473 exon3 c.4706-25T>G 0.0758786 0.0734 0.028395 0.0972 0.1222 Uncertain 1_207087053_A->G 1 207087053 207087053 A G snp 1564.77 1/1 99 53 0 53 1.0 intronic rs72758947 FAIM3 AU NM_001193338 exon6 c.8619-50A>G 0.109625 0.1657 0.096702 0.1200 0.1797 Uncertain 1_207110764_C->T 1 207110764 207110764 C T snp 2167.77 0/1 99 210 120 90 0.43 exonic rs137917999 PIGR AU nonsynonymous SNV NM_002644 exon4 c.G721A p.E241K 0.000077 4.124e-05 0.0002 0.06 T 1 N -1.040 T 0.93 T 0.372 D Pathogenic 1_207111257_G->T 1 207111257 207111257 G T snp 119.77 0/1 99 7 3 4 0.57 intronic rs291095 PIGR AU NM_002644 exon8 c.7434+161G>T 0.711462 0.5556 Uncertain 1_207134036_C->T 1 207134036 207134036 C T snp 2080.77 0/1 99 179 90 89 0.5 exonic rs3813956 FCAMR AU synonymous SNV NM_001170631 exon6 c.G1185A p.T395T 0.0215655 0.0605 0.000657 0.0072 0.0369 Uncertain 1_207135457_C->T 1 207135457 207135457 C T snp 299.77 0/1 99 27 15 12 0.44 intronic FCAMR AU NM_001170631 exon4 c.3697-100C>T Uncertain 1_207195779_A->G 1 207195779 207195779 A G snp 4013.77 1/1 99 146 0 146 1.0 exonic rs2842726 C1orf116 AU nonsynonymous SNV NM_001083924 exon3 c.T592C p.S198P 0.995208 1 0.988698 0.9883 1 1 T 0.0 P -1.016 T 0.0 T 0.0 T Pathogenic 1_207243851_A->G 1 207243851 207243851 A G snp 657.77 1/1 48 22 0 22 1.0 intronic rs923109 PFKFB2 AU NM_006212 exon12 c.15692+97A>G 0.877196 0.9921 Uncertain 1_207245045_T->C 1 207245045 207245045 T C snp 517.77 0/1 99 47 28 19 0.4 intronic rs11120137 PFKFB2 AU NM_006212 exon14 c.16856+127T>C 0.513179 0.7589 Uncertain 1_207262980_T->G 1 207262980 207262980 T G snp 3541.77 1/1 99 119 0 119 1.0 intronic rs12711513 C4BPB AU NM_000716 exon1 c.58+46T>G 0.61242 0.8373 0.500308 0.5639 0.8531 Uncertain 1_207263539_C->T 1 207263539 207263539 C T snp 185.9 1/1 15 6 0 6 1.0 intronic rs11120184 C4BPB AU NM_000716 exon2 c.776-113C>T 0.167332 0.0913 Uncertain 1_207269858_T->C 1 207269858 207269858 T C snp 2466.77 1/1 99 89 0 89 1.0 intronic rs3813948 C4BPB AU NM_000716 exon4 c.6990-8T>C 0.123203 0.1587 0.106412 0.0968 0.1662 Uncertain 1_207269919_C->T 1 207269919 207269919 C T snp 3200.06 1/1 99 123 0 123 1.0 exonic rs8942 C4BPB AU synonymous SNV NM_000716 exon4 c.C462T p.N154N 0.389776 0.1617 0.382900 0.2455 0.1690 Uncertain 1_207297484_G->C 1 207297484 207297484 G C snp 1606.77 0/1 99 90 30 60 0.67 intronic rs2842707 C4BPA AU NM_000715 exon6 c.11149-35G>C 0.525759 0.6052 0.444564 0.4523 0.6112 Uncertain 1_207297680_T->C 1 207297680 207297680 T C snp 2464.77 0/1 99 184 75 109 0.59 exonic rs1126618 C4BPA AU synonymous SNV NM_000715 exon6 c.T675C p.G225G 0.857827 0.7639 0.860987 0.8545 0.8103 Uncertain 1_207510289_T->C 1 207510289 207510289 T C snp 4119.77 1/1 99 134 0 134 1.0 intronic rs2490257 CD55 AU NM_000574 exon7 c.15053+126T>C 0.99401 1 Uncertain 1_207520788_G->A 1 207520788 207520788 G A snp 267.8 1/1 21 9 0 9 1.0 intronic rs1257729 CD55 AU NM_001300903 exon10 c.25681-3G>A 0.300719 0.5873 0.5482 0.7222 Uncertain 1_207639695_C->G 1 207639695 207639695 C G snp 84.28 1/1 9 3 0 3 1.0 intronic rs311311 CR2 AR,AU NM_001877 exon2 c.12107-175C>G 0.709864 0.8909 Uncertain 1_207643949_G->A 1 207643949 207643949 G A snp 873.77 1/1 66 22 0 22 1.0 intronic rs10863322 CR2 AR,AU NM_001877 exon7 c.16321-135G>A 0.540735 0.7252 Uncertain 1_207653395_C->A 1 207653395 207653395 C A snp 7213.77 1/1 99 248 0 248 1.0 exonic rs17617 CR2 AR,AU nonsynonymous SNV NM_001006658 exon18 c.C3185A p.A1062E 0.942891 1 0.878788 0.8835 0.9999 1 T 0.000 P -0.955 T 0.0 T 0.0 T Pathogenic 1_207679229_T->G 1 207679229 207679229 T G snp 2909.77 0/1 99 229 109 120 0.52 intronic rs4844599 CR1 AU NM_000573 exon2 c.9636-19T>G 0.271565 0.3036 0.178206 0.2469 0.2697 Uncertain 1_207679307_A->G 1 207679307 207679307 A G snp 7169.77 1/1 99 250 0 250 1.0 exonic rs4844600 CR1 AU synonymous SNV NM_000651 exon2 c.A180G p.E60E 0.850439 0.6488 0.849294 0.8217 0.6336 0.0 P -1.025 T Likely benign 1_207753345_C->T 1 207753345 207753345 C T snp 36.77 0/1 65 5 3 2 0.4 intronic rs2274566 CR1 AU NM_000573 exon22 c.83972-239C>T 0.382788 0.3542 Uncertain 1_207753621_A->G 1 207753621 207753621 A G snp 2487.77 0/1 99 188 94 94 0.5 exonic rs2274567 CR1 AU nonsynonymous SNV NM_000651 exon30 c.A4973G p.H1658R 0.294329 0.3274 0.196061 0.2510 0.2821 0.35 T 0.0 P -1.065 T 0.995 D 0.984 D ID=CM1111731;DIS=Erythrocyte sedimentation rate, association with;TAG=DP;PUB=21700265 DP Pathogenic 1_207757936_A->G 1 207757936 207757936 A G snp 578.77 0/1 99 36 17 19 0.53 intronic rs646817 CR1 AU NM_000573 exon25 c.88381-57A>G 0.484824 0.3294 Uncertain 1_207758232_A->G 1 207758232 207758232 A G snp 1778.77 0/1 99 162 95 67 0.41 intronic rs1752688 CR1 AU NM_000573 exon25 c.88609+11A>G 0.484824 0.3294 0.381784 0.3256 0.2812 Uncertain 1_207760773_C->T 1 207760773 207760773 C T snp 1600.77 0/1 99 150 79 71 0.47 exonic rs3737002 CR1 AU nonsynonymous SNV NM_000651 exon34 c.C5573T p.T1858M 0.248802 0.3264 0.213911 0.2750 0.3408 0.11 T 0.0 P -1.028 T 1.0 D 0.995 D ID=CM116073;DIS=Knops blood group variation;TAG=FP;PUB=21214579 FP Pathogenic 1_207782916_A->T 1 207782916 207782916 A T snp 6194.77 1/1 99 229 0 229 1.0 exonic rs4844609 CR1 AU nonsynonymous SNV NM_000651 exon37 c.A6178T p.T2060S 0.995008 1 0.981543 0.9853 1 1 T 0.0 P -0.947 T 0.003 T 0.005 T ID=CM024383;DIS=Knops blood group variation;TAG=FP;PUB=11896343 FP Pathogenic 1_207782931_A->G 1 207782931 207782931 A G snp 2179.77 0/1 99 203 110 93 0.46 exonic rs6691117 CR1 AU nonsynonymous SNV NM_000651 exon37 c.A6193G p.I2065V 0.493411 0.3433 0.384291 0.3341 0.3014 1 T 0.0 P -0.964 T 0.001 T 0.005 T ID=CM115653;DIS=Erythrocyte sedimentation rate, association with;TAG=DP;PUB=21700265 DP Pathogenic 1_207784968_A->G 1 207784968 207784968 A G snp 7748.77 1/1 99 250 0 250 1.0 intronic rs3818361 CR1 AU NM_000573 exon30 c.115409-53A>G 0.751398 0.6885 Uncertain 1_207790088_C->G 1 207790088 207790088 C G snp 2710.77 0/1 99 246 127 119 0.48 exonic rs3811381 CR1 AU nonsynonymous SNV NM_000651 exon41 c.C6830G p.P2277R 0.26278 0.3224 0.164669 0.2403 0.2780 0.64 T 0.0 P -0.960 T 0.643 T 0.142 P ID=CM025385;DIS=Idiopathic pulmonary fibrosis, association with;TAG=DP;PUB=12091241 DP Pathogenic 1_207795320_A->G 1 207795320 207795320 A G snp 3117.77 1/1 99 112 0 112 1.0 exonic rs2296160 CR1 AU nonsynonymous SNV NM_000651 exon44 c.A7255G p.T2419A 0.828075 0.6885 0.817006 0.8159 0.6571 0.8 T 0.0 P -1.013 T 0.0 T 0.001 T Pathogenic 1_207804141_A->C 1 207804141 207804141 A C snp 54.74 1/1 6 2 0 2 1.0 intronic rs1408077 CR1 AU NM_000573 exon38 c.134354+175A>C 0.858826 0.6954 Uncertain 1_207812791_A->G 1 207812791 207812791 A G snp 185.77 0/1 99 13 7 6 0.46 UTR3 rs41274776 CR1 AU 0.119609 0.3264 0.052289 0.1116 0.3717 Uncertain 1_207850717_G->A 1 207850717 207850717 G A snp 1191.77 0/1 99 103 50 53 0.51 intronic rs74231794 CR1L AU NM_175710 exon2 c.32155-16G>A 0.121206 0.3462 0.050687 0.0895 0.3668 Uncertain 1_207851487_-->A 1 207851487 207851487 - A indel 614.73 0/1 99 69 38 31 0.45 intronic rs3215758 CR1L AU NM_175710 exon3 c.32964-55insA 0.121006 0.3462 Uncertain 1_207851611_A->G 1 207851611 207851611 A G snp 2052.77 0/1 99 192 99 93 0.48 exonic rs2296158 CR1L AU nonsynonymous SNV NM_175710 exon3 c.A346G p.R116G 0.526558 0.6984 0.508746 0.5171 0.6917 1 T 0.0 P -0.921 T 0.0 T 0.0 T Pathogenic 1_207857254_A->G 1 207857254 207857254 A G snp 3192.79 0/1 99 250 131 119 0.48 exonic rs3085 CR1L AU nonsynonymous SNV NM_175710 exon4 c.A415G p.I139V 0.161142 0.3601 0.088235 0.1390 0.3797 0.41 T 0.0 P -0.900 T 0.005 T 0.066 T Pathogenic 1_207872507_G->A 1 207872507 207872507 G A snp 420.77 0/1 99 46 31 15 0.33 intronic rs41313728 CR1L AU NM_175710 exon8 c.53955-26G>A 0.211661 0.3651 0.136188 0.1532 0.3831 Uncertain 1_207875117_AGA->- 1 207875117 207875119 AGA - indel 882.73 0/1 99 53 28 25 0.47 intronic rs150293968 CR1L AU NM_175710 exon9 c.56385+154_56385+156delAGA 0.122005 0.3512 0.0874 0.3744 Uncertain 1_207875175_G->T 1 207875175 207875175 G T snp 219.77 0/1 99 16 9 7 0.44 intronic rs4844614 CR1L AU NM_175710 exon9 c.56385+212G>T 0.321486 0.3175 Uncertain 1_207888739_G->T 1 207888739 207888739 G T snp 2582.77 1/1 99 90 0 90 1.0 intronic rs7553211 CR1L AU NM_175710 exon11 c.72230-2069G>T 0.569289 0.878 Uncertain 1_207925595_C->T 1 207925595 207925595 C T snp 3023.77 0/1 99 244 117 127 0.52 exonic rs138843816 CD46 AR,AD nonsynonymous SNV NM_002389 exon1 c.C38T p.S13F 0.00858626 0.0228 0.001461 0.0050 0.0334 0.33 T 1 N -1.024 T 0.998 D 0.992 D ID=CM1213045;DIS=Hemolysis, elevated liver enzymes & low platelet count;TAG=DM?;PUB=22594569 DM? Pathogenic 1_207933047_C->T 1 207933047 207933047 C T snp 505.77 0/1 99 54 31 23 0.43 exonic rs145041158 CD46 AR,AD synonymous SNV NM_002389 exon4 c.C453T p.S151S 0.0101837 0.0228 0.003462 0.0060 0.0341 ID=COSM1338466;OCCURENCE=1(large_intestine) Uncertain 1_207941191_G->T 1 207941191 207941191 G T snp 2299.77 1/1 99 77 0 77 1.0 intronic rs2724374 CD46 AR,AD NM_172359 exon8 c.15611+23G>T 0.833067 0.9901 0.789065 0.8005 0.9953 Uncertain 1_207959123_T->- 1 207959123 207959123 T - indel 159.74 1/1 26 12 0 12 1.0 intronic rs539627064 CD46 AR,AD NM_172359 exon12 c.33470+96delT 0.850839 0.7718 Uncertain 1_207959136_T->A 1 207959136 207959136 T A snp 187.9 1/1 15 8 0 8 1.0 intronic rs56114948 CD46 AR,AD NM_172359 exon12 c.33470+109T>A 0.935503 0.999 Uncertain 1_208050484_T->C 1 208050484 208050484 T C snp 44.74 1/1 6 2 0 2 1.0 intergenic rs2745946 LOC148696 AU 0.401757 0.629 Uncertain 1_208050487_G->C 1 208050487 208050487 G C snp 50.74 1/1 6 2 0 2 1.0 intergenic rs2785640 LOC148696 AU 0.401757 0.629 Uncertain 1_208062260_T->C 1 208062260 208062260 T C snp 1642.77 1/1 99 59 0 59 1.0 intronic rs2745952 CD34 AU NM_001773 exon2 c.743+69T>C 0.764976 0.9246 Uncertain 1_208062471_A->C 1 208062471 208062471 A C snp 3830.77 1/1 99 145 0 145 1.0 intronic rs2073070 CD34 AU NM_001773 exon3 c.1057-34A>C 0.278954 0.3145 0.246655 0.2924 0.3587 Uncertain 1_208063067_G->A 1 208063067 208063067 G A snp 3181.78 1/1 99 112 0 112 1.0 intronic rs2179634 CD34 AU NM_001773 exon4 c.1518+101G>A 0.233027 0.2083 0.295780 0.2742 0.2406 0.48 T 0.000 P -0.959 T 0.0 T 0.0 T Uncertain 1_208063101_A->- 1 208063101 208063101 A - indel 1341.73 1/1 99 61 1 60 0.98 intronic rs3043874 CD34 AU NM_001773 exon4 c.1518+135delA 0.0798722 0.1835 0.064985 0.0509 0.2312 Uncertain 1_208072626_A->C 1 208072626 208072626 A C snp 891.77 1/1 66 29 0 29 1.0 intronic rs12029239 CD34 AU NM_001773 exon6 c.11123+55A>C 0.294728 0.3889 Uncertain 1_208200737_C->G 1 208200737 208200737 C G snp 403.77 0/1 99 46 27 19 0.41 intronic rs659192 PLXNA2 AU NM_025179 exon1 c.96+54C>G 0.179912 0.3562 0.117170 Uncertain 1_208204795_TGTT->- 1 208204795 208204798 TGTT - indel 503.73 0/1 99 25 16 9 0.36 intronic rs76190764 PLXNA2 AU NM_025179 exon4 c.4347-139_4347-136delTGTT 0.503794 0.7341 Uncertain 1_208207839_G->A 1 208207839 208207839 G A snp 559.77 0/1 99 47 23 24 0.51 exonic rs3736963 PLXNA2 AU synonymous SNV NM_025179 exon27 c.C4863T p.Y1621Y 0.442692 0.2579 0.566738 0.5120 0.2590 Uncertain 1_208211887_T->C 1 208211887 208211887 T C snp 455.77 0/1 99 35 18 17 0.49 intronic rs905100 PLXNA2 AU NM_025179 exon7 c.11232+68T>C 0.876597 0.8859 Uncertain 1_208212115_T->C 1 208212115 208212115 T C snp 883.77 0/1 99 105 64 41 0.39 intronic rs72739448 PLXNA2 AU NM_025179 exon8 c.11582-54T>C 0.0505192 0.1141 Uncertain 1_208212122_C->T 1 208212122 208212122 C T snp 919.77 0/1 99 105 64 41 0.39 intronic rs80345877 PLXNA2 AU NM_025179 exon8 c.11582-47C>T 0.0505192 0.1141 0.013763 0.0436 0.1048 Uncertain 1_208212397_A->G 1 208212397 208212397 A G snp 372.77 0/1 99 26 13 13 0.5 intronic rs2767566 PLXNA2 AU NM_025179 exon8 c.11742+68A>G 0.483826 0.7401 Uncertain 1_208213125_A->G 1 208213125 208213125 A G snp 4350.77 1/1 99 161 0 161 1.0 intronic rs1751580 PLXNA2 AU NM_025179 exon9 c.12525+13A>G 0.954273 1 0.954944 0.9871 1 Uncertain 1_208213241_C->T 1 208213241 208213241 C T snp 1615.77 0/1 99 128 63 65 0.51 intronic rs41283118 PLXNA2 AU NM_025179 exon10 c.12749-95C>T 0.0658946 0.1151 Uncertain 1_208219164_A->C 1 208219164 208219164 A C snp 338.77 0/1 99 32 18 14 0.44 intronic rs1536471 PLXNA2 AU NM_025179 exon15 c.18635-58A>C 0.755192 0.621 Uncertain 1_208219545_T->C 1 208219545 208219545 T C snp 82.77 0/1 99 17 13 4 0.24 intronic rs74152180 PLXNA2 AU NM_025179 exon15 c.18875+83T>C 0.145966 0.2034 Uncertain 1_208224957_C->T 1 208224957 208224957 C T snp 133.03 1/1 12 4 0 4 1.0 intronic rs681429 PLXNA2 AU NM_025179 exon17 c.24181+189C>T 0.958866 1 Uncertain 1_208225909_G->A 1 208225909 208225909 G A snp 592.77 0/1 99 54 30 24 0.44 intronic rs841865 PLXNA2 AU NM_025179 exon18 c.25221+101G>A 0.18111 0.3145 Uncertain 1_208233998_C->T 1 208233998 208233998 C T snp 1348.77 0/1 99 88 36 52 0.59 intronic rs2251465 PLXNA2 AU NM_025179 exon20 c.33443-32C>T 0.077476 0.1052 0.061126 0.0717 0.0983 Uncertain 1_208252777_G->C 1 208252777 208252777 G C snp 1087.77 0/1 99 84 34 50 0.6 exonic rs17011882 PLXNA2 AU nonsynonymous SNV NM_025179 exon12 c.C2414G p.A805G 0.0455272 0.1022 0.013688 0.0609 0.1561 0.41 T 1.000 P -1.098 T 0.004 T 0.006 T Pathogenic 1_208255877_T->C 1 208255877 208255877 T C snp 749.77 0/1 99 49 20 29 0.59 intronic rs6540453 PLXNA2 AU NM_025179 exon22 c.55266+24T>C 0.563898 0.6558 0.626480 0.6435 0.6871 Uncertain 1_208266469_G->T 1 208266469 208266469 G T snp 96.28 1/1 9 3 0 3 1.0 intronic rs2478805 PLXNA2 AU NM_025179 exon24 c.65658+224G>T 0.952875 1 Uncertain 1_208276399_-->CTCT 1 208276399 208276399 - CTCT indel 9225.73 1/1 99 143 0 143 1.0 intronic rs10654695 PLXNA2 AU NM_025179 exon28 c.75904-92insCTCT 0.94369 1 Uncertain 1_208383361_T->C 1 208383361 208383361 T C snp 50.74 1/1 6 2 0 2 1.0 intronic rs74155208 PLXNA2 AU NM_025179 exon30 c.183037-263T>C 0.108826 0.2252 Uncertain 1_208390086_G->C 1 208390086 208390086 G C snp 1327.77 0/1 99 126 70 56 0.44 exonic rs1664227 PLXNA2 AU synonymous SNV NM_025179 exon2 c.C1182G p.T394T 0.367212 0.4048 0.335307 0.3476 0.4183 Uncertain 1_208390155_C->T 1 208390155 208390155 C T snp 2212.77 0/1 99 164 77 87 0.53 exonic rs4844657 PLXNA2 AU synonymous SNV NM_025179 exon2 c.G1113A p.L371L 0.127596 0.1429 0.146394 0.1729 0.1380 Uncertain 1_208390162_T->C 1 208390162 208390162 T C snp 2308.77 0/1 99 173 79 94 0.54 exonic rs4844658 PLXNA2 AU nonsynonymous SNV NM_025179 exon2 c.A1106G p.E369G 0.11861 0.1429 0.137936 0.1706 0.1382 0 D 1.000 P -1.075 T 0.979 D 0.828 D Pathogenic 1_208391254_C->T 1 208391254 208391254 C T snp 1712.77 0/1 99 127 57 70 0.55 exonic rs2782948 PLXNA2 AU nonsynonymous SNV NM_025179 exon2 c.G14A p.R5Q 0.364617 0.4018 0.330930 0.3521 0.4261 0.02 T 0.150 P -0.902 T 0.883 T 0.174 P Pathogenic 1_209605637_AGCAGCAGCAGC->- 1 209605637 209605648 AGCAGCAGCAGC - indel 1124.74 1/1 27 17 0 17 1.0 exonic rs3842530 MIR205HG AU nonframeshift deletion NM_001104548 exon4 c.252_263del p.84_88del 0.5668 0.6771 Uncertain 1_209782343_A->G 1 209782343 209782343 A G snp 2553.77 1/1 99 91 0 91 1.0 exonic rs11119314 CAMK1G AU synonymous SNV NM_020439 exon8 c.A654G p.P218P 0.545527 0.5714 0.480932 0.4533 0.5801 0 D 1.000 P -0.967 T Likely benign 1_209784663_A->C 1 209784663 209784663 A C snp 524.77 1/1 42 16 0 16 1.0 intronic rs10746421 CAMK1G AU NM_020439 exon10 c.16481-146A>C 0.777556 0.7421 Uncertain 1_209785957_T->G 1 209785957 209785957 T G snp 506.77 1/1 39 14 0 14 1.0 intronic rs2272879 CAMK1G AU NM_020439 exon12 c.17801-172T>G 0.775759 0.7431 Uncertain 1_209786078_G->A 1 209786078 209786078 G A snp 2063.77 1/1 99 91 2 89 0.98 intronic rs2272880 CAMK1G AU NM_020439 exon12 c.17801-51G>A 0.758387 0.7431 0.693107 Uncertain 1_209788514_G->A 1 209788514 209788514 G A snp 2955.77 1/1 99 95 0 95 1.0 UTR3 rs2566 LAMB3 AR,AD 0.295128 0.3601 ID=CR1010233;DIS=Cervical cancer, increased risk, association with;TAG=DP;PUB=20163849 DP Uncertain 1_209792015_-->C 1 209792015 209792015 - C indel 6192.73 1/1 99 149 0 149 1.0 intronic rs397807887 LAMB3 AR,AD NM_001017402 exon5 c.3389+11insC 0.983626 1 0.952244 0.9567 0.9997 Uncertain 1_209796267_G->A 1 209796267 209796267 G A snp 95.28 1/1 9 4 0 4 1.0 intronic rs3737913 LAMB3 AR,AD NM_001017402 exon7 c.7711-59G>A 0.296725 0.3661 Uncertain 1_209799253_A->G 1 209799253 209799253 A G snp 4035.77 1/1 99 141 0 141 1.0 exonic rs2179402 LAMB3 AR,AD synonymous SNV NM_000228 exon14 c.T1716C p.C572C 0.764976 0.8304 0.746001 0.7565 0.8259 Uncertain 1_209800230_C->T 1 209800230 209800230 C T snp 2385.77 1/1 99 90 0 90 1.0 exonic rs2076349 LAMB3 AR,AD nonsynonymous SNV NM_000228 exon13 c.G1579A p.V527M 0.255192 0.5794 0.103952 0.1279 0.5762 0.09 T 0.0 P -0.925 T 0.596 P 0.368 P Pathogenic 1_209800341_C->T 1 209800341 209800341 C T snp 3174.77 1/1 99 117 0 117 1.0 intronic rs2076350 LAMB3 AR,AD NM_001017402 exon11 c.11708+18C>T 0.257188 0.5873 0.102323 0.1470 0.5991 Uncertain 1_209801519_C->T 1 209801519 209801519 C T snp 3618.77 1/1 99 133 0 133 1.0 exonic rs2076351 LAMB3 AR,AD synonymous SNV NM_000228 exon11 c.G1149A p.P383P 0.115415 0.2599 0.040958 0.0576 0.3262 Uncertain 1_209802958_C->T 1 209802958 209802958 C T snp 1716.77 1/1 99 53 0 53 1.0 intronic rs12567766 LAMB3 AR,AD NM_001017402 exon14 c.14466-123C>T 0.142372 0.2599 Uncertain 1_209803783_C->T 1 209803783 209803783 C T snp 515.77 1/1 39 15 0 15 1.0 intronic rs12568035 LAMB3 AR,AD NM_001017402 exon15 c.15344-176C>T 0.14397 0.2609 Uncertain 1_209804095_G->A 1 209804095 209804095 G A snp 1260.77 1/1 93 42 0 42 1.0 intronic rs4844863 LAMB3 AR,AD NM_001017402 exon15 c.15465+15G>A 0.823283 0.8234 0.840612 0.8472 0.8278 Uncertain 1_209807972_G->A 1 209807972 209807972 G A snp 1078.77 0/1 99 95 46 49 0.52 exonic rs1130667 LAMB3 AR,AD synonymous SNV NM_000228 exon6 c.C384T p.P128P 0.245407 0.2381 0.313701 0.3625 0.2551 Uncertain 1_209811829_A->T 1 209811829 209811829 A T snp 295.77 0/1 99 34 20 14 0.41 intronic rs2076355 LAMB3 AR,AD NM_001017402 exon20 c.23263-49A>T 0.455072 0.7153 0.260418 0.3396 0.7079 Uncertain 1_209811886_T->G 1 209811886 209811886 T G snp 654.77 0/1 99 45 18 27 0.6 exonic rs2076356 LAMB3 AR,AD synonymous SNV NM_000228 exon4 c.A291C p.S97S 0.432508 0.2847 0.574581 0.5709 0.2927 Uncertain 1_209812063_T->C 1 209812063 209812063 T C snp 686.77 1/1 51 24 0 24 1.0 intronic rs2076357 LAMB3 AR,AD NM_001017402 exon20 c.23378+70T>C 0.578874 0.6458 Uncertain 1_209823354_G->A 1 209823354 209823354 G A snp 1268.77 0/1 99 107 52 55 0.51 exonic rs2228339 LAMB3 AR,AD synonymous SNV NM_000228 exon3 c.C138T p.T46T 0.297923 0.3393 0.242350 0.2779 0.3319 Uncertain 1_209849406_T->G 1 209849406 209849406 T G snp 456.77 0/1 99 50 27 23 0.46 UTR3 rs1473683 G0S2 AU 0.919329 0.7381 Uncertain 1_209950681_T->C 1 209950681 209950681 T C snp 288.77 0/1 99 42 27 15 0.36 intronic rs649275 TRAF3IP3 AU NM_025228 exon12 c.17312-15T>C 0.613818 0.6329 0.611256 0.6226 0.6438 Uncertain 1_209950760_C->G 1 209950760 209950760 C G snp 551.77 0/1 99 62 34 28 0.45 exonic rs669694 TRAF3IP3 AU nonsynonymous SNV NM_001287754 exon5 c.C325G p.Q109E 0.8123 0.8135 0.818699 0.7901 0.8086 1 T 0.000 P -0.947 T 0.0 T 0.0 T Pathogenic 1_209952865_C->G 1 209952865 209952865 C G snp 923.77 0/1 99 74 36 38 0.51 UTR3 rs623360 TRAF3IP3 AU 0.28115 0.2282 Uncertain 1_210012102_A->G 1 210012102 210012102 A G snp 183.77 0/1 99 17 10 7 0.41 intronic rs1962735 DIEXF AU NM_014388 exon7 c.10845-151A>G 0.724641 0.8026 0.7538 0.8021 Uncertain 1_210015569_CT->- 1 210015569 210015570 CT - indel 715.73 0/1 99 42 23 19 0.45 intronic rs10570454 DIEXF AU NM_014388 exon9 c.14201-40_14201-39delCT 0.779752 0.8016 0.794089 0.7752 0.8001 Uncertain 1_210111493_C->T 1 210111493 210111493 C T snp 767.77 0/1 99 55 27 28 0.51 upstream rs139994721 SYT14 AR 0.076877 0.1687 0.0515 0.2333 Uncertain 1_210194685_A->G 1 210194685 210194685 A G snp 255.8 1/1 21 8 0 8 1.0 intronic rs11119394 SYT14 AR NM_001146264 exon5 c.83004+86A>G 0.153954 0.4504 Uncertain 1_210406940_T->C 1 210406940 210406940 T C snp 538.77 1/1 42 16 0 16 1.0 ncRNA_intronic rs624270 SERTAD4-AS1 AU 0.632788 0.7768 0.4879 0.7197 Uncertain 1_210407031_G->T 1 210407031 210407031 G T snp 1999.77 1/1 99 73 1 72 0.99 ncRNA_exonic rs624706 SERTAD4-AS1 AU 0.63099 0.7768 0.4943 0.7531 0 D 0.618 P -0.993 T Uncertain 1_210407338_T->A 1 210407338 210407338 T A snp 43.77 0/1 72 8 5 3 0.38 ncRNA_exonic rs200920236 SERTAD4-AS1 AU Uncertain 1_210407339_T->A 1 210407339 210407339 T A snp 86.77 0/1 33 8 4 4 0.5 ncRNA_exonic rs34824193 SERTAD4-AS1 AU Uncertain 1_210536025_C->T 1 210536025 210536025 C T snp 702.77 0/1 99 45 19 26 0.58 intronic rs7527939 HHAT AU NM_001170587 exon2 c.33841-170C>T 0.301917 0.1161 Uncertain 1_210536078_C->G 1 210536078 210536078 C G snp 1289.77 0/1 99 108 56 52 0.48 intronic rs2294848 HHAT AU NM_001170587 exon2 c.33841-117C>G 0.800519 0.5893 Uncertain 1_210560647_G->A 1 210560647 210560647 G A snp 37.77 0/1 66 6 4 2 0.33 intronic rs2273009 HHAT AU NM_001170587 exon3 c.58457-164G>A 0.0790735 0.1032 Uncertain 1_210560682_-->AT 1 210560682 210560682 - AT indel 263.73 0/1 99 22 15 7 0.32 intronic rs3215543 HHAT AU NM_001170587 exon3 c.58457-129insAT 0.215655 0.121 Uncertain 1_210577873_G->C 1 210577873 210577873 G C snp 537.77 0/1 99 36 13 23 0.64 exonic rs2066721 HHAT AU synonymous SNV NM_018194 exon6 c.G534C p.L178L 0.759984 0.628 0.778948 0.7706 0.6207 Uncertain 1_210591743_G->- 1 210591743 210591743 G - indel 231.73 0/1 99 40 23 17 0.42 intronic rs3215542 HHAT AU NM_001170587 exon6 c.89315+74delG 0.611821 0.7163 Uncertain 1_210686570_A->G 1 210686570 210686570 A G snp 536.77 0/1 99 52 29 23 0.44 intronic rs4545340 HHAT AU NM_001170587 exon8 c.184178+38A>G 0.711262 0.6796 0.729167 0.7339 0.7035 Uncertain 1_210761462_G->C 1 210761462 210761462 G C snp 1944.77 1/1 99 55 0 55 1.0 intronic rs4297293 HHAT AU NM_001170587 exon9 c.259089+19G>C 0.94988 1 0.949923 0.9847 1 Uncertain 1_210847514_A->T 1 210847514 210847514 A T snp 423.77 0/1 99 21 6 15 0.71 intronic rs1934615 HHAT AU NM_001170587 exon11 c.345275-115A>T 0.664736 0.6518 Uncertain 1_210856585_G->T 1 210856585 210856585 G T snp 620.77 0/1 99 60 35 25 0.42 UTR3 rs3135473 KCNH1 AD 0.756789 0.6617 0.758243 0.7090 0.6476 Uncertain 1_210857457_A->G 1 210857457 210857457 A G snp 616.77 0/1 99 71 44 27 0.38 exonic rs1135317 KCNH1 AD synonymous SNV NM_172362 exon11 c.T2136C p.D712D 0.739417 0.6528 0.741387 0.7114 0.6478 Uncertain 1_210977630_G->A 1 210977630 210977630 G A snp 190.77 0/1 99 10 4 6 0.6 intronic rs191069528 KCNH1 AD NM_002238 exon4 c.120886+122G>A 0.000798722 0.004 Uncertain 1_211264140_A->G 1 211264140 211264140 A G snp 215.77 0/1 99 26 17 9 0.35 intronic rs79802694 KCNH1 AD NM_002238 exon8 c.407410+108A>G 0.0996406 0.1111 Uncertain 1_211280725_A->- 1 211280725 211280725 A - indel 437.74 1/1 25 75 6 69 0.92 splicing rs111658240 KCNH1 AD NM_002238 exon10 c.424097+6delA 0.381789 0.3185 0.3920 0.3662 Pathogenic 1_211280737_-->C 1 211280737 211280737 - C indel 1221.73 0/1 99 61 23 38 0.62 intronic rs56223346 KCNH1 AD NM_002238 exon10 c.424097+18insC 0.0952476 0.1081 0.1097 0.1055 Uncertain 1_211380770_T->C 1 211380770 211380770 T C snp 2292.77 0/1 99 214 119 95 0.44 intergenic rs7525401 KCNH1 AD 0.544129 0.3919 Uncertain 1_211444382_G->A 1 211444382 211444382 G A snp 30.77 0/1 33 3 1 2 0.67 intronic rs36104032 RCOR3 AU NM_001136223 exon3 c.11671-191G>A 0.28155 0.1071 Uncertain 1_211447625_G->A 1 211447625 211447625 G A snp 908.77 0/1 99 67 25 42 0.63 intronic rs11580084 RCOR3 AU NM_001136223 exon4 c.14702+21G>A 0.45607 0.6171 0.472859 0.5690 0.6235 Uncertain 1_211449451_A->G 1 211449451 211449451 A G snp 767.77 1/1 57 19 0 19 1.0 intronic rs10732682 RCOR3 AU NM_001136223 exon5 c.16696-147A>G 0.954872 0.997 Uncertain 1_211451394_ATC->- 1 211451394 211451396 ATC - indel 425.73 0/1 99 21 12 9 0.43 intronic rs35547699 RCOR3 AU NM_001136223 exon6 c.18556-64_18556-62delATC 0.282149 0.1071 Uncertain 1_211451467_T->C 1 211451467 211451467 T C snp 1296.77 0/1 99 101 49 52 0.51 exonic rs11577985 RCOR3 AU synonymous SNV NM_018254 exon5 c.T351C p.D117D 0.173722 0.0655 0.189605 0.1529 0.0555 Uncertain 1_211452678_G->A 1 211452678 211452678 G A snp 226.77 0/1 99 29 16 13 0.45 intronic rs3767377 RCOR3 AU NM_001136223 exon7 c.19756+20G>A 0.456669 0.62 0.473012 0.5673 0.6288 Uncertain 1_211452728_G->A 1 211452728 211452728 G A snp 131.77 0/1 99 16 11 5 0.31 intronic rs3767378 RCOR3 AU NM_001136223 exon7 c.19756+70G>A 0.456669 0.62 Uncertain 1_211527609_C->A 1 211527609 211527609 C A snp 670.77 1/1 51 20 0 20 1.0 intronic rs7530570 TRAF5 AU NM_004619 exon3 c.1170-142C>A 0.999002 1 Uncertain 1_211545443_T->- 1 211545443 211545443 T - indel 287.73 1/1 45 22 2 20 0.91 intronic rs10717294 TRAF5 AU NM_004619 exon11 c.18888-26delT 0.4864 0.4935 Uncertain 1_211545459_C->- 1 211545459 211545459 C - indel 146.73 0/1 99 31 20 11 0.35 intronic rs375079903 TRAF5 AU NM_004619 exon11 c.18888-10delC 0.0056 0.0063 Uncertain 1_211652755_T->A 1 211652755 211652755 T A snp 288.77 0/1 99 21 8 13 0.62 intronic rs11119749 RD3 AR NM_001164688 exon1 c.292+86T>A 0.24381 0.3145 Uncertain 1_211652793_C->T 1 211652793 211652793 C T snp 71.77 0/1 99 6 3 3 0.5 intronic rs17017534 RD3 AR NM_001164688 exon1 c.292+124C>T 0.189696 0.4802 Uncertain 1_211749734_G->C 1 211749734 211749734 G C snp 169.9 1/1 15 5 0 5 1.0 intronic rs3738198 SLC30A1 AU NM_021194 exon1 c.902+103G>C 0.186302 0.1915 Uncertain 1_211840278_T->C 1 211840278 211840278 T C snp 314.78 1/1 24 11 0 11 1.0 intronic rs1542140 NEK2 AR NM_001204182 exon2 c.8449-169T>C 0.288139 0.4613 Uncertain 1_211842808_A->C 1 211842808 211842808 A C snp 456.77 1/1 36 13 1 12 0.92 intronic rs697004 NEK2 AR NM_001204183 exon2 c.2271+134A>C 0.846645 1 Uncertain 1_211846876_A->G 1 211846876 211846876 A G snp 3182.76 1/1 99 133 0 133 1.0 exonic rs701929 NEK2 AR synonymous SNV NM_002497 exon3 c.T504C p.H168H 0.603035 0.7252 0.501461 0.5584 0.7285 Uncertain 1_212150061_C->A 1 212150061 212150061 C A snp 1782.77 0/1 99 136 57 79 0.58 exonic rs767886053 INTS7 AU nonsynonymous SNV NM_001199809 exon11 c.G1324T p.V442L 6.603e-05 0.0009 0.36 T 1 D -0.526 T 0.99 D 0.98 D Pathogenic 1_212236157_G->T 1 212236157 212236157 G T snp 2226.77 1/1 99 76 0 76 1.0 intronic rs4951436 DTL AU NM_016448 exon6 c.26993-68G>T 0.938898 0.998 Uncertain 1_212240063_G->A 1 212240063 212240063 G A snp 1802.77 1/1 99 50 0 50 1.0 intronic rs3738449 DTL AU NM_016448 exon8 c.30921-90G>A 0.451478 0.5754 Uncertain 1_212241848_T->C 1 212241848 212241848 T C snp 1226.77 1/1 90 41 0 41 1.0 intronic rs2248191 DTL AU NM_016448 exon10 c.32708-92T>C 0.160144 0.5288 Uncertain 1_212251103_A->G 1 212251103 212251103 A G snp 575.77 1/1 42 20 0 20 1.0 intronic rs6658972 DTL AU NM_016448 exon12 c.42282-411A>G 0.96246 1 Uncertain 1_212251368_T->- 1 212251368 212251368 T - indel 1225.73 1/1 99 43 1 42 0.98 intronic rs397982813 DTL AU NM_016448 exon12 c.42282-146delT 0.936102 0.997 Uncertain 1_212273639_C->T 1 212273639 212273639 C T snp 5285.77 1/1 99 194 0 194 1.0 exonic rs3135474 DTL AU nonsynonymous SNV NM_001286229 exon12 c.C494T p.A165V 0.959465 1 0.949331 0.9627 0.9994 0.5 T 0.0 P -0.956 T 0.0 T 0.001 T Pathogenic 1_212274413_A->C 1 212274413 212274413 A C snp 1098.77 1/1 81 35 0 35 1.0 exonic rs6540718 DTL AU nonsynonymous SNV NM_001286229 exon12 c.A1268C p.K423T 0.996605 1 0.990620 0.9887 1 1 T 0.0 P -0.950 T 0.0 T 0.0 T Pathogenic 1_212475573_T->C 1 212475573 212475573 T C snp 370.77 0/1 99 40 22 18 0.45 intronic rs2298114 PPP2R5A AU NM_001199756 exon1 c.10+139T>C 0.126597 0.2917 Uncertain 1_212515613_C->T 1 212515613 212515613 C T snp 748.77 0/1 99 92 58 34 0.37 exonic rs1774249 PPP2R5A AU synonymous SNV NM_001199756 exon4 c.C393T p.F131F 0.28155 0.2837 0.306089 0.3279 0.2972 Uncertain 1_212521639_T->G 1 212521639 212521639 T G snp 1984.77 0/1 99 185 94 91 0.49 intronic rs701908 PPP2R5A AU NM_001199756 exon7 c.46306-91T>G 0.8125 0.7778 Uncertain 1_212526288_C->T 1 212526288 212526288 C T snp 3209.76 0/1 99 243 115 128 0.53 ncRNA_exonic rs792442 SNORA16B AU 0.802915 0.7768 0.826822 0.7790 0.7822 Uncertain 1_212530192_T->C 1 212530192 212530192 T C snp 1030.77 1/1 78 32 1 31 0.97 intronic rs792439 PPP2R5A AU NM_001199756 exon10 c.54867-99T>C 0.993411 1 Uncertain 1_212560327_A->G 1 212560327 212560327 A G snp 6190.77 1/1 99 232 1 231 1.0 exonic rs792449 TMEM206 AU synonymous SNV NM_018252 exon3 c.T249C p.F83F 0.99381 1 0.986468 0.9871 0.9999 Uncertain 1_212615875_T->C 1 212615875 212615875 T C snp 632.77 0/1 99 82 50 32 0.39 intronic rs521469 NENF AU NM_013349 exon2 c.9621-31T>C 0.473043 0.6746 0.426572 0.4270 0.6808 Uncertain 1_212619339_T->C 1 212619339 212619339 T C snp 871.77 0/1 99 70 32 38 0.54 exonic rs4804 NENF AU synonymous SNV NM_013349 exon4 c.T510C p.D170D 0.479233 0.6746 0.432339 0.4287 0.6804 Uncertain 1_212900434_-->G 1 212900434 212900434 - G indel 507.73 1/1 36 12 0 12 1.0 UTR3 rs3835160 NSL1 AU 0.691899 0.6631 0.5428 Uncertain 1_212900487_A->G 1 212900487 212900487 A G snp 1050.77 1/1 78 40 0 40 1.0 exonic rs2244935 NSL1 AU synonymous SNV NM_001297739 exon5 c.T534C p.V178V 0.909944 0.8938 0.914341 0.9154 0.9022 Uncertain 1_212911836_T->C 1 212911836 212911836 T C snp 4042.77 1/1 99 150 0 150 1.0 exonic rs15702 NSL1 AU nonsynonymous SNV NM_001297736 exon4 c.A637G p.M213V 0.607428 0.5308 0.678533 0.6402 0.5234 1 T 0.000 P -0.969 T 0.0 T 0.0 T Pathogenic 1_212912109_TT->- 1 212912109 212912110 TT - indel 275.74 1/1 27 15 0 15 1.0 intronic rs76008099 NSL1 AU NM_015471 exon1 c.279+81_279+82delTT 0.260982 0.37 Uncertain 1_212939491_C->A 1 212939491 212939491 C A snp 181.9 1/1 15 8 0 8 1.0 intronic rs10863991 NSL1 AU NM_001042549 exon3 c.26645-39C>A 0.317492 0.3472 0.3356 0.2593 Uncertain 1_212955231_A->C 1 212955231 212955231 A C snp 96.28 1/1 9 3 0 3 1.0 intronic rs11120025 NSL1 AU NM_001297739 exon2 c.55230-482A>C 0.363818 0.3889 Uncertain 1_212955454_G->A 1 212955454 212955454 G A snp 4489.77 1/1 99 171 0 171 1.0 intronic rs11120026 NSL1 AU NM_001297739 exon2 c.55230-259G>A 0.27476 0.372 0.309383 0.3549 0.3575 Uncertain 1_212970375_A->G 1 212970375 212970375 A G snp 1656.77 1/1 99 57 0 57 1.0 intronic rs1284800 TATDN3 AU NM_001146170 exon4 c.5190-78A>G 0.978035 0.999 Uncertain 1_212985466_C->T 1 212985466 212985466 C T snp 451.77 1/1 33 17 0 17 1.0 intronic rs12130945 TATDN3 AU NM_001146171 exon9 c.20305-102C>T 0.345447 0.381 Uncertain 1_213009179_A->- 1 213009179 213009179 A - indel 63.73 0/1 99 28 18 10 0.36 intronic rs369495200 SPATA45 AU NM_001024601 exon2 c.5631-35delA 0.464058 0.4613 0.4459 0.4421 Uncertain 1_213009383_G->A 1 213009383 213009383 G A snp 2499.77 0/1 99 195 95 100 0.51 exonic rs80161538 SPATA45 AU stopgain NM_001024601 exon2 c.C109T p.R37X 0.0257588 0.127 0.000077 0.0087 0.1175 1 T 1 A Pathogenic 1_213009469_A->G 1 213009469 213009469 A G snp 1421.77 0/1 99 111 54 57 0.51 exonic rs10864004 SPATA45 AU nonsynonymous SNV NM_001024601 exon2 c.T23C p.I8T 0.660543 0.5407 0.737615 0.6720 0.5389 1 T 0.0 P -1.041 T 0.0 T 0.0 T Pathogenic 1_213031709_C->T 1 213031709 213031709 C T snp 116.77 0/1 99 8 4 4 0.5 UTR5 rs2201603 FLVCR1 AR 0.444089 0.5456 Uncertain 1_213031948_G->C 1 213031948 213031948 G C snp 813.77 0/1 99 80 45 35 0.44 exonic rs11120047 FLVCR1 AR nonsynonymous SNV NM_014053 exon1 c.G154C p.A52P 0.444489 0.5476 0.394563 0.5741 0.6319 0.28 T 0.0 P -0.964 T 0.072 T 0.043 T CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000117087.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 1_213032568_T->A 1 213032568 213032568 T A snp 808.77 0/1 99 62 30 32 0.52 intronic rs12023052 FLVCR1 AR NM_014053 exon1 c.738+36T>A 0.421126 0.5327 0.423651 0.4764 0.5295 Uncertain 1_213037310_T->C 1 213037310 213037310 T C snp 34.77 0/1 63 8 5 3 0.38 intronic rs3768548 FLVCR1 AR NM_014053 exon2 c.5417+99T>C 0.286941 0.4484 Uncertain 1_213046236_G->A 1 213046236 213046236 G A snp 167.77 0/1 99 14 7 7 0.5 intronic rs1890932 FLVCR1 AR NM_014053 exon3 c.14366+76G>A 0.285743 0.4415 Uncertain 1_213056819_A->G 1 213056819 213056819 A G snp 1950.77 1/1 99 77 0 77 1.0 intronic rs2644547 FLVCR1 AR NM_014053 exon4 c.24986+39A>G 0.996206 1 0.995767 0.9988 1 Uncertain 1_213056892_A->G 1 213056892 213056892 A G snp 687.77 0/1 99 40 15 25 0.63 intronic rs12125982 FLVCR1 AR NM_014053 exon4 c.24986+112A>G 0.42512 0.5397 Uncertain 1_213058852_T->A 1 213058852 213058852 T A snp 149.77 0/1 99 13 6 7 0.54 intronic rs7536716 FLVCR1 AR NM_014053 exon5 c.26944+114T>A 0.445887 0.5536 Uncertain 1_213058871_C->G 1 213058871 213058871 C G snp 97.77 0/1 99 9 5 4 0.44 intronic rs7522693 FLVCR1 AR NM_014053 exon5 c.26944+133C>G 0.445687 0.5526 Uncertain 1_213061362_T->A 1 213061362 213061362 T A snp 547.77 0/1 99 60 35 25 0.42 intronic rs2291772 FLVCR1 AR NM_014053 exon6 c.29549+19T>A 0.284744 0.4415 0.197785 0.2599 0.4424 Uncertain 1_213061460_T->C 1 213061460 213061460 T C snp 198.77 0/1 99 12 5 7 0.58 intronic rs2291771 FLVCR1 AR NM_014053 exon6 c.29549+117T>C 0.284744 0.4415 Uncertain 1_213062017_-->TTG 1 213062017 213062017 - TTG indel 1109.73 1/1 66 44 0 44 1.0 intronic rs112024320 FLVCR1 AR NM_014053 exon7 c.30142+81insTTG Uncertain 1_213062067_T->C 1 213062067 213062067 T C snp 44.78 0/1 27 3 1 2 0.67 intronic rs10864022 FLVCR1 AR NM_014053 exon7 c.30142+131T>C 0.444489 0.5486 Uncertain 1_213068192_T->C 1 213068192 213068192 T C snp 893.77 1/1 66 27 1 26 0.96 intronic rs2792558 FLVCR1 AR NM_014053 exon9 c.36533-135T>C 0.930911 0.998 Uncertain 1_213068233_C->T 1 213068233 213068233 C T snp 1614.77 1/1 99 61 0 61 1.0 intronic rs12408694 FLVCR1 AR NM_014053 exon9 c.36533-94C>T 0.663538 0.9038 Uncertain 1_213068404_T->C 1 213068404 213068404 T C snp 763.77 0/1 99 48 18 30 0.63 intronic rs17019870 FLVCR1 AR NM_014053 exon9 c.36601+9T>C 0.284345 0.4454 0.197275 0.2597 0.4430 Uncertain 1_213068436_A->G 1 213068436 213068436 A G snp 708.77 0/1 99 39 14 25 0.64 intronic rs17019873 FLVCR1 AR NM_014053 exon9 c.36601+41A>G 0.284345 0.4454 0.196827 0.2601 0.4445 Uncertain 1_213068542_-->TGAT 1 213068542 213068542 - TGAT indel 4086.73 0/1 99 110 43 67 0.61 intronic rs146462077 FLVCR1 AR NM_014053 exon10 c.36763-15insTGAT 0.284944 0.4454 0.197093 0.2577 0.4380 Uncertain 1_213068595_C->T 1 213068595 213068595 C T snp 1824.77 0/1 99 183 101 82 0.45 exonic rs3207090 FLVCR1 AR nonsynonymous SNV NM_014053 exon10 c.C1631T p.T544M 0.379393 0.4583 0.384899 0.4492 0.4787 0.04 T 0.0 P -1.009 T 0.863 T 0.198 P CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000117088.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 1_213124868_C->T 1 213124868 213124868 C T snp 303.78 1/1 24 12 0 12 1.0 UTR5 rs149535079 VASH2 AU 0.00998403 0.0466 0.0195 0.0714 Uncertain 1_213124871_G->A 1 213124871 213124871 G A snp 419.77 1/1 33 13 0 13 1.0 UTR5 rs3123305 VASH2 AU 0.304113 0.4028 0.300275 0.5847 0.5857 Uncertain 1_213139748_T->G 1 213139748 213139748 T G snp 2647.77 1/1 99 87 0 87 1.0 intronic rs3738805 VASH2 AU NM_001136474 exon6 c.14608+61T>G 0.609225 0.6171 0.600088 Uncertain 1_213140362_G->A 1 213140362 213140362 G A snp 1077.77 1/1 78 35 0 35 1.0 intronic rs10779597 VASH2 AU NM_001136474 exon6 c.14608+675G>A 0.332468 0.4871 Uncertain 1_213140398_A->C 1 213140398 213140398 A C snp 2043.77 1/1 99 72 0 72 1.0 intronic rs10779598 VASH2 AU NM_001136474 exon6 c.14608+711A>C 0.420927 0.4911 Uncertain 1_213146944_A->G 1 213146944 213146944 A G snp 1485.77 1/1 99 42 0 42 1.0 intronic rs7511930 VASH2 AU NM_001136474 exon8 c.22217-352A>G 0.675919 0.6726 Uncertain 1_213161795_T->- 1 213161795 213161795 T - indel 3272.73 0/1 99 183 97 86 0.47 intronic VASH2 AU NM_001136474 exon9 c.36774-58delT Uncertain 1_213173457_C->T 1 213173457 213173457 C T snp 59.74 1/1 6 3 0 3 1.0 intronic rs3738806 ANGEL2 AU NM_001300755 exon3 c.5285-210C>T 0.413938 0.5268 Uncertain 1_213178340_G->A 1 213178340 213178340 G A snp 1256.77 1/1 93 36 0 36 1.0 intronic rs11120076 ANGEL2 AU NM_001300755 exon5 c.9992-34G>A 0.413938 0.5258 0.456723 0.5451 0.5237 Uncertain 1_213180441_G->A 1 213180441 213180441 G A snp 32.77 0/1 61 30 20 10 0.33 intronic rs116147385 ANGEL2 AU NM_001300755 exon6 c.12088-29G>A 0.0010 0.0005 Uncertain 1_213224719_T->C 1 213224719 213224719 T C snp 1734.77 1/1 99 64 0 64 1.0 UTR5 rs4951476 RPS6KC1 AU 0.721845 0.6161 0.750936 0.6884 0.6236 Uncertain 1_213405415_GCAACTGAGGAT->- 1 213405415 213405426 GCAACTGAGGAT - indel 6219.73 1/1 99 47 0 47 1.0 intronic rs11271079 RPS6KC1 AU NM_001287218 exon10 c.102525-50_102525-39delGCAACTGAGGAT 0.717252 0.6171 0.735953 Uncertain 1_213416197_G->A 1 213416197 213416197 G A snp 135.03 1/1 12 4 0 4 1.0 intronic rs4411110 RPS6KC1 AU NM_001287218 exon12 c.113061+196G>A 0.978235 1 Uncertain 1_214478459_G->A 1 214478459 214478459 G A snp 2815.77 0/1 99 204 84 120 0.59 intronic rs6540819 SMYD2 AU NM_020197 exon2 c.23932-70G>A 0.576078 0.62 Uncertain 1_214492286_G->A 1 214492286 214492286 G A snp 1484.77 0/1 99 130 69 61 0.47 exonic rs1134647 SMYD2 AU nonsynonymous SNV NM_020197 exon5 c.G494A p.G165E 0.830671 0.623 0.938336 0.8580 0.6172 1 T 0.000 P -0.917 T 0.001 T 0.001 T Pathogenic 1_214501190_C->A 1 214501190 214501190 C A snp 117.77 0/1 99 7 3 4 0.57 intronic rs3754136 SMYD2 AU NM_020197 exon7 c.46470+123C>A 0.313898 0.4802 Uncertain 1_214503489_T->G 1 214503489 214503489 T G snp 1741.77 0/1 99 175 95 80 0.46 intronic rs2291830 SMYD2 AU NM_020197 exon8 c.48913-21T>G 0.561901 0.62 0.556205 0.5696 0.6314 Uncertain 1_214504604_T->C 1 214504604 214504604 T C snp 554.77 0/1 99 38 18 20 0.53 intronic rs2270704 SMYD2 AU NM_020197 exon9 c.49816+191T>C 0.813099 0.622 Uncertain 1_214505596_C->T 1 214505596 214505596 C T snp 213.77 0/1 99 32 19 13 0.41 intronic rs1874804 SMYD2 AU NM_020197 exon10 c.50938+61C>T 0.309305 0.4772 Uncertain 1_214505716_T->C 1 214505716 214505716 T C snp 54.74 1/1 6 2 0 2 1.0 intronic rs6419474 SMYD2 AU NM_020197 exon10 c.50938+181T>C 0.957668 0.999 Uncertain 1_214510115_T->G 1 214510115 214510115 T G snp 1680.77 0/1 99 130 57 73 0.56 exonic rs11120301 SMYD2 AU nonsynonymous SNV NM_020197 exon12 c.T1290G p.I430M 0.0778754 0.246 0.002460 0.0476 0.2681 0.41 T 1.000 P -0.973 T 0.004 T 0.003 T Pathogenic 1_214542668_T->C 1 214542668 214542668 T C snp 348.78 1/1 27 11 0 11 1.0 intronic rs3002311 PTPN14 AR NM_005401 exon3 c.11535-131T>C 0.784145 0.6488 Uncertain 1_214542819_T->C 1 214542819 214542819 T C snp 6554.77 1/1 99 249 1 248 1.0 exonic rs1135352 PTPN14 AR synonymous SNV NM_005401 exon17 c.A3252G p.E1084E 0.783946 0.6488 0.826695 0.7695 0.6186 Uncertain 1_214543098_A->G 1 214543098 214543098 A G snp 293.77 0/1 99 24 13 11 0.46 intronic rs3738425 PTPN14 AR NM_005401 exon3 c.11770+64A>G 0.150559 0.2589 Uncertain 1_214549501_C->T 1 214549501 214549501 C T snp 497.77 0/1 99 39 19 20 0.51 intronic rs1125452 PTPN14 AR NM_005401 exon5 c.18297-60C>T 0.150958 0.1885 Uncertain 1_214551276_G->A 1 214551276 214551276 G A snp 1506.77 1/1 99 55 0 55 1.0 intronic rs3013451 PTPN14 AR NM_005401 exon6 c.20037-25G>A 0.786542 0.6488 0.831770 0.7778 0.6173 Uncertain 1_214558228_A->G 1 214558228 214558228 A G snp 381.77 1/1 30 11 0 11 1.0 intronic rs3013446 PTPN14 AR NM_005401 exon7 c.26867+97A>G 0.799321 0.6389 Uncertain 1_214564257_T->A 1 214564257 214564257 T A snp 2939.77 0/1 99 250 130 120 0.48 intronic rs79862878 PTPN14 AR NM_005401 exon9 c.33066-73T>A 0.00279553 0.0139 Uncertain 1_214564340_T->C 1 214564340 214564340 T C snp 5747.77 1/1 99 199 0 199 1.0 exonic rs7550799 PTPN14 AR synonymous SNV NM_005401 exon11 c.A978G p.R326R 0.786342 0.6349 0.839228 0.7725 0.6137 Uncertain 1_214564442_C->G 1 214564442 214564442 C G snp 1235.77 1/1 90 36 0 36 1.0 intronic rs11120307 PTPN14 AR NM_005401 exon9 c.33124+54C>G 0.466254 0.4663 0.418747 Uncertain 1_214566845_A->G 1 214566845 214566845 A G snp 284.78 1/1 24 8 0 8 1.0 intronic rs7355212 PTPN14 AR NM_005401 exon10 c.35773-192A>G 0.964856 0.999 Uncertain 1_214566952_A->G 1 214566952 214566952 A G snp 1808.77 1/1 99 62 0 62 1.0 intronic rs4655342 PTPN14 AR NM_005401 exon10 c.35773-85A>G 0.785942 0.6359 Uncertain 1_214567014_G->- 1 214567014 214567014 G - indel 2908.73 1/1 99 88 0 88 1.0 intronic rs11322819 PTPN14 AR NM_005401 exon10 c.35773-23delG 0.837965 0.7754 0.6184 Uncertain 1_214571251_A->C 1 214571251 214571251 A C snp 3320.77 0/1 99 230 100 130 0.57 splicing rs11580603 PTPN14 AR NM_005401 exon12 c.39991-4A>C 0.350439 0.4365 0.371060 0.3734 0.4419 Pathogenic 1_214575122_T->C 1 214575122 214575122 T C snp 1851.77 0/1 99 161 79 82 0.51 intronic rs17022807 PTPN14 AR NM_005401 exon13 c.43851+7T>C 0.124201 0.1706 0.083884 0.0950 0.1514 Uncertain 1_214637882_A->G 1 214637882 214637882 A G snp 887.77 1/1 66 23 0 23 1.0 intronic rs7528315 PTPN14 AR NM_005401 exon18 c.106708-90A>G 0.826078 0.7847 Uncertain 1_214638172_C->T 1 214638172 214638172 C T snp 4833.77 1/1 99 162 0 162 1.0 UTR5 rs10864100 PTPN14 AR 0.826078 0.7847 0.834410 0.8081 0.7764 Uncertain 1_214826196_G->A 1 214826196 214826196 G A snp 1008.77 1/1 72 38 0 38 1.0 exonic rs335524 CENPF AR nonsynonymous SNV NM_016343 exon16 c.G8186A p.R2729Q 0.561102 0.8849 0.391435 0.5174 0.8872 0.65 T 0.000 P -1.022 T 0.003 T 0.001 T Pathogenic 1_214826364_G->A 1 214826364 214826364 G A snp 751.77 1/1 54 30 0 30 1.0 intronic rs335523 CENPF AR NM_016343 exon16 c.39235+32G>A 0.538339 0.8393 0.404015 0.5086 0.8450 Uncertain 1_214826811_T->- 1 214826811 214826811 T - indel 1866.73 1/1 99 118 6 112 0.95 intronic rs11303309 CENPF AR NM_016343 exon16 c.39235+479delT 0.513179 0.5744 Uncertain 1_214826988_A->C 1 214826988 214826988 A C snp 290.78 1/1 24 9 0 9 1.0 intronic rs335522 CENPF AR NM_016343 exon16 c.39235+656A>C 0.846645 1 Uncertain 1_214828812_A->G 1 214828812 214828812 A G snp 3081.77 1/1 99 108 0 108 1.0 intronic rs435043 CENPF AR NM_016343 exon17 c.41649+66A>G 0.736422 0.8879 Uncertain 1_214830617_A->G 1 214830617 214830617 A G snp 6052.77 1/1 99 215 0 215 1.0 exonic rs438034 CENPF AR nonsynonymous SNV NM_016343 exon18 c.A8827G p.R2943G 0.618411 0.8879 0.492004 0.5987 0.8838 0.39 T 0.000 P -1.060 T 0.0 T 0.0 T Pathogenic 1_214837110_C->G 1 214837110 214837110 C G snp 3646.77 1/1 99 125 0 125 1.0 exonic rs7289 CENPF AR nonsynonymous SNV NM_016343 exon20 c.C9318G p.N3106K 0.63099 0.8889 0.503921 0.6080 0.8807 1 T 0.0 P -1.012 T 0.0 T 0.0 T Pathogenic 1_215239896_T->C 1 215239896 215239896 T C snp 588.77 1/1 45 15 0 15 1.0 intronic rs1545505 KCNK2 AU NM_001017424 exon2 c.80446-19814T>C 0.955871 1 Uncertain 1_215260152_A->T 1 215260152 215260152 A T snp 306.77 0/1 99 20 9 11 0.55 intronic rs11586565 KCNK2 AU NM_014217 exon2 c.3372+131A>T 0.29972 0.5079 Uncertain 1_215345264_TCTCTC->- 1 215345264 215345269 TCTCTC - indel 427.73 0/1 62 7 1 6 0.86 intronic rs3834061 KCNK2 AU NM_014217 exon5 c.88690-75_88690-70delTCTCTC Uncertain 1_215368514_A->G 1 215368514 215368514 A G snp 80.77 0/1 99 7 3 4 0.57 intronic rs1556907 KCNK2 AU NM_014217 exon6 c.111786+79A>G 0.384784 0.3452 Uncertain 1_215408057_G->T 1 215408057 215408057 G T snp 374.77 0/1 99 22 9 13 0.59 intronic rs11120527 KCNK2 AU NM_014217 exon7 c.151521-113G>T 0.302716 0.2817 Uncertain 1_215741053_T->G 1 215741053 215741053 T G snp 1254.77 0/1 99 84 27 57 0.68 exonic rs2275768 KCTD3 AU nonsynonymous SNV NM_016121 exon1 c.T25G p.F9V 0.291334 0.4276 0.154692 0.3080 0.4 0.37 T 0.000 P -0.906 T 0.005 T 0.003 T Pathogenic 1_215753355_T->G 1 215753355 215753355 T G snp 1949.77 0/1 99 139 56 83 0.6 intronic rs11803705 KCTD3 AU NM_016121 exon8 c.12314+13T>G 0.295727 0.4444 0.212979 0.3007 0.4404 Uncertain 1_215781574_A->G 1 215781574 215781574 A G snp 140.77 0/1 99 16 11 5 0.31 intronic rs3767255 KCTD3 AU NM_016121 exon14 c.40486+60A>G 0.302716 0.4415 Uncertain 1_215793834_G->A 1 215793834 215793834 G A snp 960.77 0/1 99 83 47 36 0.43 exonic rs14137 KCTD3 AU synonymous SNV NM_016121 exon18 c.G2322A p.A774A 0.414337 0.3492 0.540750 0.5547 0.3625 Uncertain 1_215798992_C->T 1 215798992 215798992 C T snp 601.77 0/1 99 53 29 24 0.45 UTR3 rs148615639 USH2A AU,AR 0.0349441 0.0377 Uncertain 1_215821013_C->G 1 215821013 215821013 C G snp 507.77 0/1 99 66 40 26 0.39 exonic rs200949691 USH2A AU,AR nonsynonymous SNV NM_206933 exon67 c.G14642C p.S4881T 0.00119808 0.006 0.0006 0.0054 0.66 T 0.999 N -1.017 T 0.028 T 0.031 T Pathogenic 1_215848062_C->T 1 215848062 215848062 C T snp 1993.77 1/1 99 72 0 72 1.0 exonic rs2009923 USH2A AU,AR synonymous SNV NM_206933 exon63 c.G13191A p.E4397E 0.203474 0.3522 0.144472 0.1993 0.3529 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=criteria_provided\x2c_multiple_submitters\x2c_no_conflicts|criteria_provided\x2c_single_submitter;CLNACC=RCV000041736.2|RCV000126269.1;CLNDSDB=MedGen|MedGen;CLNDSDBID=CN169374|CN221809 Uncertain 1_215849044_C->G 1 215849044 215849044 C G snp 521.77 1/1 39 15 0 15 1.0 intronic rs4443864 USH2A AU,AR NM_206933 exon10 c.49836+86C>G 0.245008 0.369 Uncertain 1_215853357_G->A 1 215853357 215853357 G A snp 66.77 0/1 95 9 6 3 0.33 intronic rs10864183 USH2A AU,AR NM_206933 exon11 c.54368-133G>A 0.298123 0.4167 Uncertain 1_215853749_T->- 1 215853749 215853749 T - indel 990.73 1/1 99 53 0 53 1.0 intronic rs397828675 USH2A AU,AR NM_206933 exon11 c.54596+31delT 0.795527 0.8452 0.8154 0.9225 Uncertain 1_215853835_A->G 1 215853835 215853835 A G snp 156.77 0/1 46 10 2 8 0.8 intronic rs12140451 USH2A AU,AR NM_206933 exon11 c.54596+117A>G 0.254992 0.2986 Uncertain 1_215914646_T->A 1 215914646 215914646 T A snp 348.77 0/1 99 16 5 11 0.69 intronic rs6694510 USH2A AU,AR NM_206933 exon13 c.115594-70T>A 0.277955 0.3938 Uncertain 1_215916728_-->TATGTGTGTG 1 215916728 215916728 - TATGTGTGTG indel 338.06 0/1 11 11 1 10 0.91 intronic USH2A AU,AR NM_206933 exon14 c.117555+51insTATGTGTGTG Uncertain 1_215932957_G->A 1 215932957 215932957 G A snp 621.77 0/1 99 48 25 23 0.48 intronic rs17025373 USH2A AU,AR NM_206933 exon16 c.133879-44G>A 0.132188 0.3948 0.045825 0.1004 0.3706 Uncertain 1_215956304_A->G 1 215956304 215956304 A G snp 1525.77 1/1 99 53 1 52 0.98 intronic rs7518466 USH2A AU,AR NM_206933 exon20 c.157155+27A>G 0.601637 0.6518 0.584000 0.5770 0.6536 Uncertain 1_215960167_T->G 1 215960167 215960167 T G snp 3573.77 1/1 99 124 2 122 0.98 exonic rs10864198 USH2A AU,AR nonsynonymous SNV NM_206933 exon52 c.A10232C p.E3411A 0.588658 0.6518 0.570583 0.5469 0.6404 1 T 0.000 P -0.970 T 0.0 T 0.0 T CLINSIG=non-pathogenic,non-pathogenic|non-pathogenic;CLNDBN=not_specified,not_specified|not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter,criteria_provided\x2c_multiple_submitters\x2c_no_conflicts|criteria_provided\x2c_single_submitter;CLNACC=RCV000154357.1,RCV000041665.5|RCV000126257.1;CLNDSDB=MedGen,MedGen|MedGen;CLNDSDBID=CN169374,CN169374|CN221809 Pathogenic 1_216051287_A->G 1 216051287 216051287 A G snp 5345.77 1/1 99 195 1 194 0.99 intronic rs7518358 USH2A AU,AR NM_206933 exon30 c.252100+65A>G 0.326078 0.4226 Uncertain 1_216172380_A->G 1 216172380 216172380 A G snp 1086.77 1/1 78 36 0 36 1.0 exonic rs10864219 USH2A AU,AR nonsynonymous SNV NM_206933 exon34 c.T6506C p.I2169T 0.59345 0.8343 0.480932 0.5567 0.8351 0.65 T 0.000 P -0.984 T 0.094 T 0.016 T CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=criteria_provided\x2c_multiple_submitters\x2c_no_conflicts|criteria_provided\x2c_single_submitter;CLNACC=RCV000041888.2|RCV000126249.1;CLNDSDB=MedGen|MedGen;CLNDSDBID=CN169374|CN221809 Pathogenic 1_216219781_A->G 1 216219781 216219781 A G snp 1158.77 0/1 99 96 49 47 0.49 exonic rs6657250 USH2A AU,AR nonsynonymous SNV NM_206933 exon32 c.T6317C p.I2106T 0.595647 0.4544 0.700446 0.6069 0.4430 0.56 T 0.0 P -0.969 T 0.0 T 0.0 T CLINSIG=non-pathogenic|non-pathogenic,non-pathogenic;CLNDBN=not_provided|not_specified,not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter|criteria_provided\x2c_single_submitter,criteria_provided\x2c_single_submitter;CLNACC=RCV000126248.1|RCV000154356.1,RCV000154111.3;CLNDSDB=MedGen|MedGen,MedGen;CLNDSDBID=CN221809|CN169374,CN169374 Pathogenic 1_216221721_C->T 1 216221721 216221721 C T snp 195.77 0/1 94 9 3 6 0.67 intronic rs10864227 USH2A AU,AR NM_206933 exon42 c.422753-154C>T 0.345447 0.5218 Uncertain 1_216246676_G->- 1 216246676 216246676 G - indel 1746.73 1/1 99 47 0 47 1.0 ncRNA_intronic rs35944387 LOC102723833 AU 0.78734 0.9454 0.708513 0.7320 0.9525 Uncertain 1_216348764_C->T 1 216348764 216348764 C T snp 3126.77 1/1 99 112 0 112 1.0 exonic rs1805049 USH2A AU,AR nonsynonymous SNV NM_206933 exon21 c.G4457A p.R1486K 0.66234 0.7788 0.606412 0.6580 0.7839 0.12 T 0.0 P -1.017 T 0.118 T 0.031 T CLINSIG=non-pathogenic|non-pathogenic,non-pathogenic;CLNDBN=not_provided|not_specified,not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter|criteria_provided\x2c_single_submitter,criteria_provided\x2c_single_submitter;CLNACC=RCV000126245.1|RCV000154339.1,RCV000154668.1;CLNDSDB=MedGen|MedGen,MedGen;CLNDSDBID=CN221809|CN169374,CN169374 Pathogenic 1_216370130_T->G 1 216370130 216370130 T G snp 689.77 1/1 51 22 0 22 1.0 intronic rs386851 USH2A AU,AR NM_007123 exon3 c.21485+66T>G 0.938698 0.9861 Uncertain 1_216390694_C->T 1 216390694 216390694 C T snp 2784.77 1/1 99 98 0 98 1.0 intronic rs1324330 USH2A AU,AR NM_007123 exon7 c.42149-34C>T 0.58746 0.7738 0.522913 0.6337 0.7811 Uncertain 1_216592003_T->C 1 216592003 216592003 T C snp 1974.77 0/1 99 171 84 87 0.51 exonic rs4253963 USH2A AU,AR synonymous SNV NM_206933 exon3 c.A504G p.T168T 0.632788 0.8175 0.596340 0.6485 0.8390 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter|criteria_provided\x2c_single_submitter;CLNACC=RCV000041854.2|RCV000126251.1;CLNDSDB=MedGen|MedGen;CLNDSDBID=CN169374|CN221809 Uncertain 1_216679858_-->T 1 216679858 216679858 - T indel 200.73 0/1 99 18 8 10 0.56 UTR3 rs144848582 ESRRG AU 0.427316 0.6062 Uncertain 1_216692669_C->T 1 216692669 216692669 C T snp 1704.77 0/1 99 129 60 69 0.53 exonic rs945453 ESRRG AU synonymous SNV NM_001438 exon6 c.G957A p.S319S 0.632588 0.7381 0.498078 0.5030 0.7183 Uncertain 1_216737861_G->T 1 216737861 216737861 G T snp 74.77 0/1 99 9 5 4 0.44 intronic rs11117622 ESRRG AU NM_001243518 exon3 c.57463+118G>T 0.133387 0.1429 Uncertain 1_216824505_C->G 1 216824505 216824505 C G snp 412.77 0/1 99 34 15 19 0.56 intronic rs10863261 ESRRG AU NM_001243515 exon5 c.144151+74C>G 0.133586 0.0774 Uncertain 1_216851005_T->C 1 216851005 216851005 T C snp 77.77 0/1 99 6 3 3 0.5 intronic rs11117657 ESRRG AU NM_001243515 exon6 c.170553+172T>C 0.157748 0.0774 Uncertain 1_216896444_A->G 1 216896444 216896444 A G snp 545.77 1/1 42 14 0 14 1.0 intronic rs2813709 ESRRG AU NM_001243519 exon9 c.216301-137A>G 0.971246 0.9444 Uncertain 1_217856622_A->G 1 217856622 217856622 A G snp 558.77 0/1 99 32 11 21 0.66 exonic rs12035909 SPATA17 AU nonsynonymous SNV NM_138796 exon5 c.A314G p.Y105C 0.0257588 0.0675 0.006386 0.0164 0.0836 0 D 0.802 N -0.999 T 1.0 D 0.988 D Pathogenic 1_217947738_G->A 1 217947738 217947738 G A snp 3638.77 1/1 99 132 0 132 1.0 exonic rs6604561 SPATA17 AU synonymous SNV NM_138796 exon7 c.G582A p.Q194Q 0.726837 0.7292 0.769183 0.7737 0.7615 Uncertain 1_218036237_T->G 1 218036237 218036237 T G snp 387.77 0/1 99 22 8 14 0.64 intronic rs6658846 SPATA17 AU NM_138796 exon10 c.231478+39T>G 0.217652 0.1062 0.262527 0.2867 0.0897 Uncertain 1_218458551_T->C 1 218458551 218458551 T C snp 186.77 0/1 99 12 6 6 0.5 upstream rs946213 RRP15 AU 0.466853 0.377 Uncertain 1_218475441_G->T 1 218475441 218475441 G T snp 96.28 1/1 9 3 0 3 1.0 intronic rs11118073 RRP15 AU NM_016052 exon2 c.16977-194G>T 0.0854633 0.0595 Uncertain 1_218475533_C->T 1 218475533 218475533 C T snp 169.77 0/1 99 27 18 9 0.33 intronic rs2251169 RRP15 AU NM_016052 exon2 c.16977-102C>T 0.301118 0.4137 Uncertain 1_218475625_T->A 1 218475625 218475625 T A snp 1270.77 0/1 99 98 50 48 0.49 intronic rs79780813 RRP15 AU NM_016052 exon2 c.16977-10T>A 0.0854633 0.0595 0.087191 0.0476 0.0746 Uncertain 1_218478411_G->C 1 218478411 218478411 G C snp 1296.77 0/1 99 123 62 61 0.5 exonic rs11118075 RRP15 AU nonsynonymous SNV NM_016052 exon3 c.G447C p.K149N 0.0275559 0.0595 0.029448 0.0306 0.0742 0.06 T 1.000 D -0.736 T 1.0 D 0.999 D Pathogenic 1_218480697_C->T 1 218480697 218480697 C T snp 114.77 0/1 99 8 4 4 0.5 intronic rs79801491 RRP15 AU NM_016052 exon4 c.22114-75C>T 0.0277556 0.0605 Uncertain 1_218504466_-->T 1 218504466 218504466 - T indel 573.74 1/1 25 24 1 23 0.96 UTR3 rs200918227 RRP15 AU 0.0291534 0.0675 0.030032 0.0314 0.0796 Uncertain 1_218610663_T->- 1 218610663 218610663 T - indel 189.76 0/1 22 21 5 16 0.76 intronic rs11285412 TGFB2 AD NM_003238 exon6 c.90641-21delT 0.474241 0.506 0.4702 0.4784 Uncertain 1_218683417_-->T 1 218683417 218683417 - T indel 229.73 0/1 99 41 18 23 0.56 intergenic rs11422961 TGFB2 AD 0.2730 0.3228 Uncertain 1_218683528_A->G 1 218683528 218683528 A G snp 170.77 0/1 99 19 11 8 0.42 intergenic rs7532546 TGFB2 AD 0.224042 0.248 0.2193 0.2748 0.01 T -0.969 T Uncertain 1_218683536_A->G 1 218683536 218683536 A G snp 132.77 0/1 99 17 10 7 0.41 intergenic rs7532551 TGFB2 AD 0.223642 0.248 0.2070 0.2752 Uncertain 1_218696903_C->T 1 218696903 218696903 C T snp 1550.77 0/1 99 162 91 71 0.44 intergenic rs41313742 TGFB2 AD 0.129593 0.1617 Uncertain 1_218698728_G->A 1 218698728 218698728 G A snp 1786.77 0/1 99 141 66 75 0.53 intergenic rs72738863 TGFB2 AD 0.216254 0.2371 0.1835 0.3011 Uncertain 1_218698832_C->T 1 218698832 218698832 C T snp 1985.77 0/1 99 186 94 92 0.49 intergenic rs76205268 TGFB2 AD 0.0251597 0.1161 0.0060 0.1343 0 D -1.012 T Uncertain 1_219366307_A->G 1 219366307 219366307 A G snp 37.77 0/1 66 4 2 2 0.5 intronic rs12023395 LYPLAL1 AU NM_138794 exon3 c.19191-116A>G 0.0173722 0.0734 Uncertain 1_219366400_-->G 1 219366400 219366400 - G indel 289.73 0/1 99 37 18 19 0.51 intronic rs35359058 LYPLAL1 AU NM_138794 exon3 c.19191-23insG 0.733427 0.6438 0.7555 0.6553 Uncertain 1_219383848_-->CTTTTT 1 219383848 219383848 - CTTTTT indel 1437.73 1/1 51 17 0 17 1.0 intronic rs3087015 LYPLAL1 AU NM_001300769 exon3 c.36624-8insCTTTTT 0.961462 1 0.9892 0.9994 Uncertain 1_219383867_T->C 1 219383867 219383867 T C snp 734.77 1/1 54 31 0 31 1.0 intronic rs940571 LYPLAL1 AU NM_138794 exon4 c.36641-6T>C 0.960264 1 0.959699 0.9886 1 Uncertain 1_219383905_A->G 1 219383905 219383905 A G snp 801.77 1/1 57 33 0 33 1.0 exonic rs940570 LYPLAL1 AU nonsynonymous SNV NM_138794 exon4 c.A393G p.I131M 0.963259 1 0.964549 0.9895 1 0.23 T 0.000 P -0.954 T 0.0 T 0.001 T Pathogenic 1_219706428_T->C 1 219706428 219706428 T C snp 6246.77 1/1 99 234 0 234 1.0 intergenic rs10746385 LYPLAL1 AU 0.536542 0.752 0.537496 0.5622 0.7423 Uncertain 1_219783279_T->A 1 219783279 219783279 T A snp 4835.77 1/1 99 222 0 222 1.0 intergenic rs2653989 LYPLAL1 AU Uncertain 1_219783709_G->A 1 219783709 219783709 G A snp 570.77 1/1 57 235 118 117 0.5 intergenic rs368783050 LYPLAL1 AU 0.378195 0.6726 Uncertain 1_219785163_A->G 1 219785163 219785163 A G snp 35.74 1/1 6 31 0 31 1.0 intergenic rs2796886 LYPLAL1 AU 0.0309505 0.0377 Uncertain 1_220089352_A->C 1 220089352 220089352 A C snp 450.77 0/1 99 24 7 17 0.71 ncRNA_intronic rs2231734 RNU5F-1 AU 0.292532 0.4107 Uncertain 1_220101008_A->C 1 220101008 220101008 A C snp 42.77 0/1 33 3 1 2 0.67 ncRNA_intronic rs79951865 RNU5F-1 AU Uncertain 1_220101029_-->C 1 220101029 220101029 - C indel 299.73 0/1 99 17 8 9 0.53 ncRNA_intronic rs372482196 RNU5F-1 AU Uncertain 1_220142023_C->T 1 220142023 220142023 C T snp 300.77 0/1 99 20 9 11 0.55 ncRNA_intronic rs1061248 RNU5F-1 AU 0.476438 0.5804 Uncertain 1_220142070_C->T 1 220142070 220142070 C T snp 368.77 0/1 99 38 22 16 0.42 ncRNA_intronic rs1061242 RNU5F-1 AU 0.476238 0.5804 Uncertain 1_220145371_T->G 1 220145371 220145371 T G snp 774.77 1/1 57 26 0 26 1.0 ncRNA_intronic rs2795315 RNU5F-1 AU 0.890176 0.9216 0.869163 0.8425 0.9133 Uncertain 1_220145584_C->T 1 220145584 220145584 C T snp 484.77 0/1 99 37 18 19 0.51 ncRNA_intronic rs1982986 RNU5F-1 AU 0.476438 0.5804 Uncertain 1_220145637_A->G 1 220145637 220145637 A G snp 187.77 0/1 99 20 10 10 0.5 ncRNA_intronic rs1982985 RNU5F-1 AU 0.291334 0.2887 Uncertain 1_220145655_C->T 1 220145655 220145655 C T snp 185.77 0/1 99 13 7 6 0.46 ncRNA_intronic rs1982984 RNU5F-1 AU 0.476238 0.5804 Uncertain 1_220151808_-->AA 1 220151808 220151808 - AA indel 546.73 0/1 99 27 15 12 0.44 ncRNA_intronic rs3215088 RNU5F-1 AU 0.477236 0.5804 Uncertain 1_220153332_-->AA 1 220153332 220153332 - AA indel 3710.73 1/1 99 74 0 74 1.0 ncRNA_intronic rs34917248 RNU5F-1 AU 0.836462 0.9216 Uncertain 1_220154247_T->- 1 220154247 220154247 T - indel 604.73 1/1 69 33 0 33 1.0 ncRNA_intronic rs35193743 RNU5F-1 AU 0.697684 0.7232 0.6429 0.7052 Uncertain 1_220154602_T->C 1 220154602 220154602 T C snp 193.84 1/1 18 6 0 6 1.0 ncRNA_intronic rs1694599 RNU5F-1 AU 0.836462 0.9216 Uncertain 1_220154660_AAA->- 1 220154660 220154662 AAA - indel 1070.73 1/1 78 26 0 26 1.0 ncRNA_intronic rs10595099 RNU5F-1 AU 0.848043 0.9216 Uncertain 1_220154768_C->T 1 220154768 220154768 C T snp 1577.77 0/1 99 180 103 77 0.43 exonic rs1061160 EPRS AU synonymous SNV NM_004446 exon24 c.G3405A p.Q1135Q 0.354034 0.3423 0.352683 0.3461 0.3908 Uncertain 1_220155920_G->A 1 220155920 220155920 G A snp 108.77 0/1 99 8 4 4 0.5 ncRNA_intronic rs2133194 RNU5F-1 AU 0.48103 0.5794 Uncertain 1_220156090_T->C 1 220156090 220156090 T C snp 4085.77 1/1 99 163 0 163 1.0 ncRNA_intronic rs2647462 RNU5F-1 AU 0.836462 0.9216 0.812394 0.8259 0.9129 Uncertain 1_220156427_T->C 1 220156427 220156427 T C snp 261.77 0/1 99 20 10 10 0.5 ncRNA_intronic rs1391566 RNU5F-1 AU 0.48103 0.5813 Uncertain 1_220160360_A->G 1 220160360 220160360 A G snp 781.77 0/1 99 40 13 27 0.68 ncRNA_intronic rs2647435 RNU5F-1 AU 0.560104 0.5804 Uncertain 1_220160433_A->G 1 220160433 220160433 A G snp 3592.77 1/1 99 125 0 125 1.0 ncRNA_intronic rs2647434 RNU5F-1 AU 0.895966 0.9474 0.859197 0.8430 0.9435 Uncertain 1_220161751_A->G 1 220161751 220161751 A G snp 176.9 1/1 15 6 0 6 1.0 ncRNA_intronic rs2795310 RNU5F-1 AU 0.830471 0.9454 Uncertain 1_220161859_C->G 1 220161859 220161859 C G snp 941.77 0/1 99 58 23 35 0.6 ncRNA_intronic rs2291838 RNU5F-1 AU 0.270367 0.3651 Uncertain 1_220162195_T->C 1 220162195 220162195 T C snp 456.77 0/1 99 31 14 17 0.55 ncRNA_intronic rs2254494 RNU5F-1 AU 0.560304 0.5804 0.615046 0.6502 0.5965 Uncertain 1_220174732_C->T 1 220174732 220174732 C T snp 311.77 0/1 99 15 5 10 0.67 ncRNA_intronic rs1694575 RNU5F-1 AU 0.553315 0.5228 Uncertain 1_220178717_-->A 1 220178717 220178717 - A indel 1539.73 1/1 99 44 0 44 1.0 ncRNA_intronic rs397746590 RNU5F-1 AU 0.898962 0.9395 0.859735 0.8441 0.9331 Uncertain 1_220179322_A->T 1 220179322 220179322 A T snp 59.74 1/1 6 3 0 3 1.0 ncRNA_intronic rs2647420 RNU5F-1 AU 0.828275 0.9375 Uncertain 1_220180833_C->T 1 220180833 220180833 C T snp 101.77 0/1 99 9 5 4 0.44 ncRNA_intronic rs2270709 RNU5F-1 AU 0.27476 0.4147 Uncertain 1_220184164_-->G 1 220184164 220184164 - G indel 713.73 1/1 57 19 0 19 1.0 ncRNA_intronic rs111370390 RNU5F-1 AU Uncertain 1_220192193_A->- 1 220192193 220192193 A - indel 211.73 1/1 33 11 0 11 1.0 ncRNA_intronic rs34320023 RNU5F-1 AU 0.404952 0.4196 Uncertain 1_220192495_C->G 1 220192495 220192495 C G snp 1848.77 1/1 99 54 0 54 1.0 ncRNA_intronic rs2245457 RNU5F-1 AU 0.898962 0.9395 Uncertain 1_220193215_T->A 1 220193215 220193215 T A snp 74.77 0/1 99 7 4 3 0.43 ncRNA_intronic rs3820457 RNU5F-1 AU 0.19389 0.3532 Uncertain 1_220197545_C->T 1 220197545 220197545 C T snp 1093.77 1/1 81 34 0 34 1.0 ncRNA_intronic rs2577159 RNU5F-1 AU 0.828474 0.9375 Uncertain 1_220197625_G->T 1 220197625 220197625 G T snp 3660.77 1/1 99 133 0 133 1.0 exonic rs2230301 EPRS AU nonsynonymous SNV NM_004446 exon8 c.C924A p.D308E 0.898962 0.9395 0.859065 0.8450 0.9329 1 T 0.000 P -0.988 T 0.0 T 0.001 T Pathogenic 1_220205704_T->A 1 220205704 220205704 T A snp 384.77 0/1 99 23 8 15 0.65 ncRNA_intronic rs3738339 RNU5F-1 AU 0.210264 0.3413 0.050054 0.1199 0.3372 Uncertain 1_220205943_G->A 1 220205943 220205943 G A snp 1332.77 1/1 99 42 0 42 1.0 ncRNA_intronic rs2789816 RNU5F-1 AU 0.828275 0.9375 Uncertain 1_220205980_A->C 1 220205980 220205980 A C snp 630.77 1/1 48 17 0 17 1.0 ncRNA_intronic rs2577138 RNU5F-1 AU 0.828474 0.9385 Uncertain 1_220207017_C->T 1 220207017 220207017 C T snp 1754.77 1/1 99 58 0 58 1.0 ncRNA_intronic rs2647456 RNU5F-1 AU 0.899161 0.9405 0.859065 0.8438 0.9331 Uncertain 1_220208154_C->A 1 220208154 220208154 C A snp 1052.77 1/1 78 30 0 30 1.0 ncRNA_intronic rs2789817 RNU5F-1 AU 0.827875 0.9385 Uncertain 1_220239448_T->C 1 220239448 220239448 T C snp 1495.77 0/1 99 129 65 64 0.5 ncRNA_intronic rs1146773 RNU5F-1 AU 0.657748 0.5248 0.7640 0.495 Uncertain 1_220240862_A->G 1 220240862 220240862 A G snp 612.77 0/1 99 39 12 27 0.69 ncRNA_intronic rs17563262 RNU5F-1 AU 0.121605 0.124 Uncertain 1_220267830_G->C 1 220267830 220267830 G C snp 1531.77 0/1 99 104 49 55 0.53 splicing rs117860947 IARS2 AR NM_018060 exon1 c.267+5G>C 0.00319489 0.0159 0.0012 0.0157 Pathogenic 1_220275378_G->A 1 220275378 220275378 G A snp 125.78 0/1 25 5 1 4 0.8 ncRNA_intronic rs2789788 RNU5F-1 AU 0.514776 0.6101 Uncertain 1_220321023_A->G 1 220321023 220321023 A G snp 1354.77 0/1 99 132 72 60 0.45 UTR3 rs11095 IARS2 AR 0.126797 0.1329 0.137091 0.1836 0.1335 Uncertain 1_220331319_T->G 1 220331319 220331319 T G snp 1428.77 0/1 99 102 47 55 0.54 intronic rs3767654 RAB3GAP2 AR NM_012414 exon6 c.6626+101T>G 0.122804 0.125 Uncertain 1_220332552_C->T 1 220332552 220332552 C T snp 251.77 0/1 99 18 9 9 0.5 intronic rs2789792 RAB3GAP2 AR NM_012414 exon7 c.8135-175C>T 0.552716 0.6885 Uncertain 1_220335430_A->G 1 220335430 220335430 A G snp 122.77 0/1 69 7 3 4 0.57 intronic rs2164790 RAB3GAP2 AR NM_012414 exon8 c.10947-109A>G 0.298123 0.3819 Uncertain 1_220369746_A->- 1 220369746 220369746 A - indel 531.73 0/1 99 59 23 36 0.61 splicing rs35396665 RAB3GAP2 AR NM_012414 exon26 c.45148+6delA 0.304113 0.3988 0.254075 0.3371 0.4287 Pathogenic 1_220383613_G->A 1 220383613 220383613 G A snp 445.77 0/1 99 24 9 15 0.63 intronic rs149215068 RAB3GAP2 AR NM_012414 exon29 c.59137-116G>A 0.00379393 0.0188 Uncertain 1_220406291_A->G 1 220406291 220406291 A G snp 335.77 0/1 99 19 7 12 0.63 intronic rs10863538 RAB3GAP2 AR NM_012414 exon34 c.81613+86A>G 0.500799 0.4395 Uncertain 1_220427810_A->G 1 220427810 220427810 A G snp 2211.77 0/1 99 193 102 91 0.47 intronic rs143759389 RAB3GAP2 AR NM_012414 exon35 c.120972-17754A>G 0.0539137 0.0714 Uncertain 1_220603311_GTGA->- 1 220603311 220603314 GTGA - indel 5369.73 1/1 99 88 0 88 1.0 intergenic rs10553491 RAB3GAP2 AR 0.5646 0.5246 Uncertain 1_220603324_A->G 1 220603324 220603324 A G snp 2861.77 1/1 99 105 1 104 0.99 intergenic rs12402904 RAB3GAP2 AR 0.166933 0.3423 0.1241 0.3281 0 D -0.904 T Uncertain 1_220607685_G->A 1 220607685 220607685 G A snp 3100.77 1/1 99 109 1 108 0.99 intergenic rs1361256 RAB3GAP2 AR 0.810104 0.8839 0.8733 0.8788 Uncertain 1_220607891_A->G 1 220607891 220607891 A G snp 2632.77 1/1 99 87 0 87 1.0 intergenic rs1338767 RAB3GAP2 AR 0.923922 1 Uncertain 1_220608142_C->T 1 220608142 220608142 C T snp 1192.77 1/1 87 35 0 35 1.0 intergenic rs12032166 RAB3GAP2 AR 0.167133 0.3423 Uncertain 1_220789236_C->T 1 220789236 220789236 C T snp 969.77 1/1 69 41 0 41 1.0 intronic rs2786599 MARK1 AU NM_018650 exon7 c.87116-44C>T 0.932508 0.999 0.924149 0.9797 1 Uncertain 1_220921945_G->C 1 220921945 220921945 G C snp 601.77 0/1 99 36 16 20 0.56 exonic rs337188 MARC2 AU synonymous SNV NM_017898 exon1 c.G72C p.G24G 0.206869 0.253 0.076527 0.2272 0.3305 Uncertain 1_220922199_G->- 1 220922199 220922199 G - indel 344.73 0/1 99 47 23 24 0.51 intronic rs573517065 MARC2 AU NM_017898 exon1 c.272+54delG 0.0275559 0.0694 Uncertain 1_220927771_C->T 1 220927771 220927771 C T snp 1788.77 0/1 99 167 85 82 0.49 intronic rs41314538 MARC2 AU NM_017898 exon2 c.6415-517C>T 0.183107 0.2381 Uncertain 1_220927805_T->C 1 220927805 220927805 T C snp 1197.77 0/1 99 103 52 51 0.5 intronic rs60183673 MARC2 AU NM_017898 exon2 c.6415-483T>C 0.0249601 0.0605 Uncertain 1_220927867_C->T 1 220927867 220927867 C T snp 332.77 0/1 99 17 7 10 0.59 intronic rs58538649 MARC2 AU NM_017898 exon2 c.6415-421C>T 0.0235623 0.0585 Uncertain 1_220928313_T->C 1 220928313 220928313 T C snp 535.77 0/1 99 66 42 24 0.36 exonic rs12044903 MARC2 AU synonymous SNV NM_017898 exon2 c.T297C p.D99D 0.0221645 0.0585 0.004767 0.0123 0.0685 Uncertain 1_220928334_A->G 1 220928334 220928334 A G snp 592.77 0/1 99 76 48 28 0.37 exonic rs12048193 MARC2 AU synonymous SNV NM_017898 exon2 c.A318G p.R106R 0.0221645 0.0585 0.004767 0.0122 0.0685 Uncertain 1_220928376_T->C 1 220928376 220928376 T C snp 751.77 0/1 99 91 56 35 0.38 exonic rs371348 MARC2 AU synonymous SNV NM_017898 exon2 c.T360C p.N120N 0.0615016 0.0625 0.042519 0.0262 0.0731 Uncertain 1_220935081_G->A 1 220935081 220935081 G A snp 1547.77 0/1 99 165 93 72 0.44 exonic rs2275575 MARC2 AU synonymous SNV NM_017898 exon3 c.G528A p.A176A 0.208067 0.2312 0.146010 0.1928 0.2652 Uncertain 1_220935255_C->A 1 220935255 220935255 C A snp 720.77 0/1 99 50 23 27 0.54 intronic rs2275574 MARC2 AU NM_017898 exon3 c.13289+93C>A 0.0319489 0.0585 Uncertain 1_220936372_G->A 1 220936372 220936372 G A snp 1790.77 0/1 99 173 96 77 0.45 exonic rs3795535 MARC2 AU nonsynonymous SNV NM_017898 exon4 c.G730A p.G244S 0.0321486 0.0585 0.013840 0.0143 0.0682 0.02 T 0.999 D -0.660 T 1.0 D 0.997 D ID=CM1413080;DIS=Decreased catalytic efficiency;TAG=FP;PUB=24423752 FP Pathogenic 1_220936420_A->G 1 220936420 220936420 A G snp 1438.77 0/1 99 126 64 62 0.49 intronic rs182872 MARC2 AU NM_017898 exon4 c.14519+28A>G 0.0692891 0.0625 0.050284 0.0279 0.0730 Uncertain 1_220953201_T->G 1 220953201 220953201 T G snp 50.74 1/1 6 2 0 2 1.0 intronic rs12030456 MARC2 AU NM_017898 exon5 c.31486-158T>G 0.0311502 0.0526 Uncertain 1_220953310_A->C 1 220953310 220953310 A C snp 305.77 0/1 99 24 11 13 0.54 intronic rs17008680 MARC2 AU NM_017898 exon5 c.31486-49A>C 0.0315495 0.0526 0.015147 0.0136 0.0647 Uncertain 1_220955168_A->G 1 220955168 220955168 A G snp 3022.77 0/1 99 250 120 130 0.52 exonic rs12030434 MARC2 AU synonymous SNV NM_017898 exon7 c.A933G p.P311P 0.0311502 0.0526 0.015224 0.0140 0.0646 Uncertain 1_220957430_G->T 1 220957430 220957430 G T snp 744.77 0/1 99 46 20 26 0.57 UTR3 rs12026176 MARC2 AU 0.0311502 0.0526 Uncertain 1_220960457_A->C 1 220960457 220960457 A C snp 885.77 0/1 99 106 61 45 0.42 exonic rs79575000 MARC1 AU synonymous SNV NM_022746 exon1 c.A171C p.T57T 0.0235623 0.0556 0.005587 0.0302 0.1704 ID=COSM3689359;OCCURENCE=1(large_intestine) Uncertain 1_220960576_C->G 1 220960576 220960576 C G snp 853.77 0/1 99 76 35 41 0.54 intronic rs72470443 MARC1 AU NM_022746 exon1 c.275+15C>G 0.0229633 0.0556 0.004979 0.0295 0.1591 Uncertain 1_220960603_G->A 1 220960603 220960603 G A snp 581.77 0/1 99 48 21 27 0.56 intronic rs72470444 MARC1 AU NM_022746 exon1 c.275+42G>A 0.0229633 0.0556 0.006151 0.0240 0.1088 Uncertain 1_220960667_C->T 1 220960667 220960667 C T snp 61.77 0/1 90 14 10 4 0.29 intronic rs72470575 MARC1 AU NM_022746 exon1 c.275+106C>T 0.0229633 0.0556 Uncertain 1_220964798_T->C 1 220964798 220964798 T C snp 710.77 0/1 99 53 28 25 0.47 intronic rs953970 MARC1 AU NM_022746 exon2 c.4546-34T>C 0.0233626 0.0556 0.007535 0.0129 0.0658 Uncertain 1_220964843_G->C 1 220964843 220964843 G C snp 1827.77 0/1 99 142 71 71 0.5 exonic rs12023067 MARC1 AU nonsynonymous SNV NM_022746 exon2 c.G286C p.V96L 0.0115815 0.0546 0.0052 0.0657 0.01 T 1.000 D -1.174 T 0.989 D 0.901 D Pathogenic 1_220965086_G->C 1 220965086 220965086 G C snp 926.77 0/1 99 80 46 34 0.42 intronic rs3738177 MARC1 AU NM_022746 exon2 c.4720+80G>C 0.229433 0.3065 Uncertain 1_220965099_T->C 1 220965099 220965099 T C snp 778.77 0/1 99 61 33 28 0.46 intronic rs12026877 MARC1 AU NM_022746 exon2 c.4720+93T>C 0.0231629 0.0556 Uncertain 1_220969924_C->A 1 220969924 220969924 C A snp 583.77 0/1 99 49 23 26 0.53 intronic rs6671579 MARC1 AU NM_022746 exon3 c.9698-60C>A 0.0359425 0.0575 Uncertain 1_220970028_A->G 1 220970028 220970028 A G snp 5440.77 1/1 99 201 0 201 1.0 exonic rs2642438 MARC1 AU nonsynonymous SNV NM_022746 exon3 c.A493G p.T165A 0.809505 0.7679 0.776642 0.7542 0.7948 1 T 0.0 P -0.972 T 0.0 T 0.001 T Pathogenic 1_220971073_C->T 1 220971073 220971073 C T snp 87.77 0/1 99 10 6 4 0.4 intronic rs67889619 MARC1 AU NM_022746 exon4 c.10929-142C>T 0.0513179 0.0575 Uncertain 1_220971263_G->A 1 220971263 220971263 G A snp 2834.77 0/1 99 244 124 120 0.49 exonic rs72470600 MARC1 AU synonymous SNV NM_022746 exon4 c.G660A p.S220S 0.0153754 0.0565 0.005459 0.0063 0.0644 1.000 N -1.097 T Likely benign 1_220986516_C->T 1 220986516 220986516 C T snp 235.77 0/1 99 17 9 8 0.47 intronic rs12144830 MARC1 AU NM_022746 exon7 c.26347-117C>T 0.229034 0.2946 Uncertain 1_220986546_G->A 1 220986546 220986546 G A snp 394.77 0/1 99 34 19 15 0.44 intronic rs17650107 MARC1 AU NM_022746 exon7 c.26347-87G>A 0.221645 0.2946 Uncertain 1_221053545_T->C 1 221053545 221053545 T C snp 1502.77 0/1 99 125 58 67 0.54 exonic rs12141189 HLX AU nonsynonymous SNV NM_021958 exon1 c.T346C p.S116P 0.210863 0.2252 0.212028 0.2416 0.2280 0.33 T 1.0 P -0.957 T 0.048 T 0.023 T Pathogenic 1_221053600_-->GCAGCAACAGCCGCC 1 221053600 221053600 - GCAGCAACAGCCGCC indel 8791.73 0/1 99 149 79 70 0.47 exonic rs752844857 HLX AU nonframeshift insertion NM_021958 exon1 c.401_402insGCAGCAACAGCCGCC p.Q134delinsQQQQPP 0.0107 0.0364 Uncertain 1_221054648_A->C 1 221054648 221054648 A C snp 3293.77 0/1 99 249 120 129 0.52 exonic rs146391223 HLX AU synonymous SNV NM_021958 exon2 c.A705C p.A235A 0.0203674 0.0327 0.000615 0.0104 0.0371 Uncertain 1_221054761_C->G 1 221054761 221054761 C G snp 1858.77 0/1 99 126 58 68 0.54 intronic rs17597773 HLX AU NM_021958 exon2 c.1516+46C>G 0.210663 0.2252 0.219899 0.2388 0.2256 Uncertain 1_221055299_C->T 1 221055299 221055299 C T snp 1148.77 0/1 99 81 37 44 0.54 intronic rs118059254 HLX AU NM_021958 exon3 c.2306-206C>T 0.0203674 0.0327 Uncertain 1_221507141_C->T 1 221507141 221507141 C T snp 2478.77 1/1 99 81 1 80 0.99 ncRNA_exonic rs7555947 C1orf140 AU 0.990615 1 0.992773 0.9960 1 Uncertain 1_221509161_G->C 1 221509161 221509161 G C snp 107.77 0/1 99 8 4 4 0.5 ncRNA_intronic rs6685717 C1orf140 AU 0.504593 0.3869 0.608410 0.5807 0.3674 Uncertain 1_221912361_T->C 1 221912361 221912361 T C snp 2869.77 1/1 99 106 0 106 1.0 exonic rs1141714 DUSP10 AU synonymous SNV NM_007207 exon2 c.A726G p.E242E 0.720248 0.6736 0.708442 0.6737 0.6839 Uncertain 1_221912808_T->C 1 221912808 221912808 T C snp 2174.77 0/1 99 169 79 90 0.53 exonic rs1136448 DUSP10 AU synonymous SNV NM_007207 exon2 c.A279G p.Q93Q 0.343251 0.4484 0.318622 0.3899 0.4721 Uncertain 1_222697088_G->A 1 222697088 222697088 G A snp 2433.77 0/1 99 231 119 112 0.48 intronic rs3748662 HHIPL2 AU NM_024746 exon2 c.1094+52G>A 0.264976 0.3254 0.271315 0.2802 0.3419 Uncertain 1_222700416_C->T 1 222700416 222700416 C T snp 1804.77 0/1 99 171 93 78 0.46 intronic rs1487523 HHIPL2 AU NM_024746 exon3 c.4450+24C>T 0.319089 0.3383 0.328925 0.3133 0.3646 Uncertain 1_222700590_C->T 1 222700590 222700590 C T snp 146.77 0/1 99 12 7 5 0.42 intronic rs1487524 HHIPL2 AU NM_024746 exon3 c.4450+198C>T 0.0527157 0.1002 Uncertain 1_222705111_G->A 1 222705111 222705111 G A snp 90.28 1/1 9 3 0 3 1.0 intronic rs4846372 HHIPL2 AU NM_024746 exon4 c.9365-196G>A 0.997204 1 Uncertain 1_222705270_T->C 1 222705270 222705270 T C snp 3378.77 1/1 99 118 0 118 1.0 intronic rs4846373 HHIPL2 AU NM_024746 exon4 c.9365-37T>C 0.550519 0.6548 0.484238 0.4443 0.6847 Uncertain 1_222705546_G->A 1 222705546 222705546 G A snp 773.77 1/1 57 23 0 23 1.0 intronic rs17163175 HHIPL2 AU NM_024746 exon4 c.9511+93G>A 0.517173 0.6548 Uncertain 1_222713221_C->T 1 222713221 222713221 C T snp 191.77 0/1 99 12 5 7 0.58 intronic rs11487853 HHIPL2 AU NM_024746 exon6 c.17409-130C>T 0.0551118 0.1012 Uncertain 1_222713503_C->G 1 222713503 222713503 C G snp 2634.77 0/1 99 231 117 114 0.49 exonic rs3748664 HHIPL2 AU synonymous SNV NM_024746 exon4 c.G1299C p.T433T 0.375599 0.5089 0.303783 0.3413 0.5406 Uncertain 1_222713631_G->C 1 222713631 222713631 G C snp 936.77 0/1 99 91 55 36 0.4 exonic rs3748666 HHIPL2 AU nonsynonymous SNV NM_024746 exon4 c.C1171G p.H391D 0.375599 0.5089 0.303937 0.3418 0.5406 0.96 T 0.0 P -0.911 T 0.0 T 0.0 T Pathogenic 1_222713750_G->A 1 222713750 222713750 G A snp 650.77 1/1 51 18 0 18 1.0 intronic rs3828079 HHIPL2 AU NM_024746 exon6 c.17741+67G>A 0.54992 0.6538 Uncertain 1_222713830_T->C 1 222713830 222713830 T C snp 46.77 0/1 33 3 1 2 0.67 intronic rs74148125 HHIPL2 AU NM_024746 exon6 c.17741+147T>C 0.0551118 0.1012 Uncertain 1_222715247_A->G 1 222715247 222715247 A G snp 96.28 1/1 9 4 0 4 1.0 intronic rs11487812 HHIPL2 AU NM_024746 exon7 c.19411-106A>G 0.550519 0.6558 Uncertain 1_222715591_G->A 1 222715591 222715591 G A snp 509.77 0/1 99 42 23 19 0.45 intronic rs117326786 HHIPL2 AU NM_024746 exon7 c.19555+94G>A 0.0239617 0.1002 Uncertain 1_222717132_C->T 1 222717132 222717132 C T snp 2988.77 0/1 99 250 125 125 0.5 exonic rs3811466 HHIPL2 AU nonsynonymous SNV NM_024746 exon2 c.G721A p.V241M 0.0984425 0.2669 0.004152 0.0601 0.2753 0.07 T 1.000 P -1.003 T 1.0 D 0.993 D Pathogenic 1_222721288_C->T 1 222721288 222721288 C T snp 2896.77 1/1 99 108 0 108 1.0 exonic rs4846382 HHIPL2 AU synonymous SNV NM_024746 exon1 c.G99A p.L33L 0.581869 0.6379 0.541956 0.6369 0.6436 Uncertain 1_222734803_G->C 1 222734803 222734803 G C snp 1822.77 0/1 99 174 86 88 0.51 exonic rs1134898 TAF1A AU synonymous SNV NM_139352 exon9 c.C801G p.G267G 0.3125 0.3671 0.355836 0.4328 0.3596 Uncertain 1_222737265_G->T 1 222737265 222737265 G T snp 658.77 1/1 48 23 0 23 1.0 intronic rs35877231 TAF1A AU NM_005681 exon4 c.5399-135G>T 0.996605 1 Uncertain 1_222737568_C->T 1 222737568 222737568 C T snp 197.84 1/1 18 6 0 6 1.0 intronic rs3008640 TAF1A AU NM_005681 exon4 c.5466+101C>T 1 1 Uncertain 1_222742676_T->C 1 222742676 222742676 T C snp 897.77 1/1 66 26 0 26 1.0 intronic rs4846766 TAF1A AU NM_005681 exon5 c.10850-175T>C 0.595847 0.7391 0.6144 0.7601 Uncertain 1_222751034_T->C 1 222751034 222751034 T C snp 952.77 0/1 99 91 54 37 0.41 intronic rs2936033 TAF1A AU NM_005681 exon7 c.18984+49T>C 0.545927 0.5714 0.610385 0.6452 0.5730 Uncertain 1_222761649_C->A 1 222761649 222761649 C A snp 363.77 1/1 30 10 0 10 1.0 intronic rs4525045 TAF1A AU NM_005681 exon10 c.29783-135C>A 0.689097 0.7788 Uncertain 1_222798106_G->A 1 222798106 222798106 G A snp 1738.77 1/1 99 67 0 67 1.0 splicing rs3008617 MIA3 AU NM_198551 exon3 c.6657-3G>A 0.998403 1 0.996119 0.9992 1 Pathogenic 1_222802006_A->G 1 222802006 222802006 A G snp 4060.77 1/1 99 153 0 153 1.0 exonic rs2936053 MIA3 AU nonsynonymous SNV NM_198551 exon4 c.A1444G p.K482E 0.995607 1 0.992691 0.9983 1 1 T 0.0 P -0.991 T 0.0 T 0.0 T Pathogenic 1_222802803_T->G 1 222802803 222802803 T G snp 6028.77 1/1 99 203 0 203 1.0 exonic rs3748626 MIA3 AU synonymous SNV NM_198551 exon4 c.T2241G p.P747P 0.507388 0.5823 0.585178 0.6337 0.5816 0.0 P -0.984 T Likely benign 1_222802926_C->T 1 222802926 222802926 C T snp 6984.77 1/1 99 248 0 248 1.0 exonic rs3008620 MIA3 AU synonymous SNV NM_198551 exon4 c.C2364T p.S788S 0.800519 0.8899 0.799950 0.8685 0.8872 0.0 P Uncertain 1_222821211_C->T 1 222821211 222821211 C T snp 527.77 1/1 39 19 0 19 1.0 intronic rs61824282 MIA3 AU NM_198551 exon8 c.30718-959C>T 0.35643 0.4196 Uncertain 1_222823529_A->C 1 222823529 222823529 A C snp 1089.77 1/1 78 39 0 39 1.0 intronic rs17465637 MIA3 AU NM_198551 exon9 c.32181-104A>C 0.503794 0.6052 0.6543 0.6242 ID=CR114607;DIS=Myocardial infarction, association with;TAG=DP;PUB=21463265 DP Uncertain 1_222823743_T->G 1 222823743 222823743 T G snp 923.77 1/1 69 32 0 32 1.0 intronic rs67180937 MIA3 AU NM_198551 exon9 c.32270+21T>G 0.493011 0.5823 0.592196 0.6309 0.5786 Uncertain 1_222825088_C->G 1 222825088 222825088 C G snp 59.74 1/1 6 3 0 3 1.0 intronic rs17011681 MIA3 AU NM_198551 exon12 c.33866-230C>G 0.492612 0.5813 Uncertain 1_222825403_G->A 1 222825403 222825403 G A snp 1376.77 1/1 99 49 0 49 1.0 intronic rs3002150 MIA3 AU NM_198551 exon12 c.33938+13G>A 0.932508 0.8869 0.957836 0.9529 0.8792 Uncertain 1_222825717_T->C 1 222825717 222825717 T C snp 4659.77 1/1 99 172 0 172 1.0 intronic rs10495198 MIA3 AU NM_198551 exon13 c.34222+43T>C 0.503794 0.6052 0.579930 0.6405 0.5975 Uncertain 1_222825761_G->A 1 222825761 222825761 G A snp 2923.77 1/1 99 93 0 93 1.0 intronic rs2936019 MIA3 AU NM_198551 exon13 c.34222+87G>A 0.932508 0.8869 Uncertain 1_222826481_G->A 1 222826481 222826481 G A snp 2754.77 1/1 99 89 0 89 1.0 intronic rs2291832 MIA3 AU NM_198551 exon14 c.35020+9G>A 0.484824 0.5813 0.574174 0.6335 0.5790 Uncertain 1_222826847_A->T 1 222826847 222826847 A T snp 139.03 1/1 12 4 0 4 1.0 intronic rs2291833 MIA3 AU NM_198551 exon15 c.35229+166A>T 0.779752 0.8819 Uncertain 1_222832295_T->C 1 222832295 222832295 T C snp 525.77 1/1 39 17 0 17 1.0 intronic rs2291834 MIA3 AU NM_198551 exon19 c.40713+130T>C 0.493011 0.5813 Uncertain 1_222833601_T->C 1 222833601 222833601 T C snp 2741.77 1/1 99 99 1 98 0.99 exonic rs3002153 MIA3 AU synonymous SNV NM_198551 exon24 c.T5058C p.P1686P 0.995008 1 0.992351 0.9982 1 Uncertain 1_222837594_G->A 1 222837594 222837594 G A snp 1096.77 1/1 81 34 0 34 1.0 intronic rs2270707 MIA3 AU NM_198551 exon27 c.46038+104G>A 0.652955 0.6091 Uncertain 1_222838216_C->T 1 222838216 222838216 C T snp 2573.77 1/1 99 87 0 87 1.0 intronic rs2936026 MIA3 AU NM_198551 exon28 c.47198-434C>T 0.932109 0.8859 0.9205 0.8642 Uncertain 1_222846882_G->A 1 222846882 222846882 G A snp 701.77 1/1 54 22 0 22 1.0 intronic rs12138316 AIDA AU NM_022831 exon3 c.3543+105G>A 0.484824 0.5813 Uncertain 1_222860734_C->T 1 222860734 222860734 C T snp 146.03 1/1 12 6 0 6 1.0 intronic rs3008638 AIDA AU NM_022831 exon6 c.17702-202C>T 0.998403 1 Uncertain 1_222886119_A->G 1 222886119 222886119 A G snp 7167.77 1/1 99 246 0 246 1.0 UTR5 rs3811465 BROX AU 0.757188 0.7262 0.7819 0.7714 0 D 1.000 P -1.023 T 0.0 T 0.0 T Uncertain 1_222919895_T->G 1 222919895 222919895 T G snp 411.77 0/1 99 26 10 16 0.62 exonic rs2378607 FAM177B AU nonsynonymous SNV NM_207468 exon3 c.T8G p.I3S 0.589257 0.7708 0.547901 0.6738 0.7725 0.53 T 0.000 P -1.007 T 0.006 T 0.007 T Pathogenic 1_222923001_A->G 1 222923001 222923001 A G snp 668.77 0/1 99 65 37 28 0.43 intronic rs2068814 FAM177B AU NM_207468 exon5 c.3017+97A>G 0.588259 0.7708 Uncertain 1_222923351_A->G 1 222923351 222923351 A G snp 567.77 0/1 99 43 18 25 0.58 exonic rs6683071 FAM177B AU nonsynonymous SNV NM_207468 exon6 c.A428G p.Q143R 0.791534 0.8006 0.796332 0.8032 0.7926 0.84 T 0.0 P -1.027 T 0.0 T 0.0 T Pathogenic 1_223152868_G->A 1 223152868 223152868 G A snp 1419.77 1/1 99 42 0 42 1.0 intronic rs1815607 DISP1 AU NM_032890 exon5 c.40256-3553G>A 0.974042 1 Uncertain 1_223156382_C->T 1 223156382 223156382 C T snp 637.77 1/1 48 23 0 23 1.0 intronic rs2926159 DISP1 AU NM_032890 exon5 c.40256-39C>T 0.9998 1 0.999846 0.9999 1 Uncertain 1_223178561_A->C 1 223178561 223178561 A C snp 7475.77 1/1 99 250 0 250 1.0 exonic rs9441941 DISP1 AU synonymous SNV NM_032890 exon10 c.A3822C p.P1274P 0.498003 0.4782 0.534907 0.5453 0.5169 Uncertain 1_223283910_A->G 1 223283910 223283910 A G snp 6913.77 1/1 99 250 0 250 1.0 exonic rs7512943 TLR5 AU nonsynonymous SNV NM_003268 exon6 c.T2464C p.F822L 1 1 1.0000 1 0.7 T 0.0 P -1.005 T 0.0 T 0.0 T ID=CM068204;DIS=Reduced function;TAG=FP;PUB=16470719 FP Pathogenic 1_223284528_A->G 1 223284528 223284528 A G snp 1495.77 0/1 99 105 48 57 0.54 exonic rs5744174 TLR5 AU nonsynonymous SNV NM_003268 exon6 c.T1846C p.F616L 0.290335 0.1984 0.334615 0.3901 0.2163 1 T 0.0 P -1.014 T 0.0 T 0.002 T ID=CM109522;DIS=Chronic yersiniosis susceptibility;TAG=DFP;PUB=21071776 DFP Pathogenic 1_223286426_A->G 1 223286426 223286426 A G snp 947.77 0/1 99 82 38 44 0.54 intronic rs45506101 TLR5 AU NM_003268 exon1 c.2581+49A>G 0.0265575 0.0565 Uncertain 1_223286551_A->C 1 223286551 223286551 A C snp 46.77 0/1 33 3 1 2 0.67 intronic rs1773727 TLR5 AU NM_003268 exon1 c.2581+174A>C 0.289337 0.1984 Uncertain 1_223394228_T->C 1 223394228 223394228 T C snp 83.77 0/1 99 22 17 5 0.23 UTR3 rs3768284 SUSD4 AU 0.0499201 0.0992 Uncertain 1_223396838_G->T 1 223396838 223396838 G T snp 2586.77 0/1 99 195 89 106 0.54 exonic rs76683056 SUSD4 AU synonymous SNV NM_017982 exon8 c.C1197A p.G399G 0.0251597 0.0972 0.001496 0.0109 0.1036 Uncertain 1_223397037_T->C 1 223397037 223397037 T C snp 1410.77 0/1 99 120 62 58 0.48 intronic rs851149 SUSD4 AU NM_017982 exon2 c.1440+64T>C 0.266573 0.1974 Uncertain 1_223397054_G->A 1 223397054 223397054 G A snp 1164.77 0/1 99 95 51 44 0.46 intronic rs77269074 SUSD4 AU NM_017982 exon2 c.1440+81G>A 0.0453275 0.0972 Uncertain 1_223402440_G->T 1 223402440 223402440 G T snp 222.77 0/1 99 12 5 7 0.58 intronic rs75029427 SUSD4 AU NM_017982 exon4 c.7005-98G>T 0.0670927 0.1379 Uncertain 1_223402441_G->A 1 223402441 223402441 G A snp 231.77 0/1 99 12 5 7 0.58 intronic rs79446368 SUSD4 AU NM_017982 exon4 c.7005-97G>A 0.0319489 0.1369 Uncertain 1_223408224_T->C 1 223408224 223408224 T C snp 917.77 0/1 99 73 33 40 0.55 intronic rs11485987 SUSD4 AU NM_017982 exon4 c.7197+5494T>C 0.0415335 0.12 Uncertain 1_223715249_T->- 1 223715249 223715249 T - indel 706.73 0/1 99 49 28 21 0.43 intronic rs36108579 CAPN8 AU NM_001143962 exon1 c.24+27delT 0.467652 0.5337 0.469051 0.5066 0.5402 Uncertain 1_223716349_G->A 1 223716349 223716349 G A snp 4090.77 1/1 99 135 0 135 1.0 intronic rs4072246 CAPN8 AU NM_001143962 exon2 c.1271-120G>A 0.692891 0.7044 Uncertain 1_223717379_A->C 1 223717379 223717379 A C snp 2330.77 1/1 99 92 0 92 1.0 intronic rs61823524 CAPN8 AU NM_001143962 exon3 c.2230-49A>C 0.977037 0.9365 0.998467 0.9949 0.9443 Uncertain 1_223717484_G->A 1 223717484 223717484 G A snp 3182.76 1/1 99 108 0 108 1.0 exonic rs34158997 CAPN8 AU unknown 0.67472 0.6687 0.705431 0.7453 0.6720 Uncertain 1_223718462_G->A 1 223718462 223718462 G A snp 720.77 1/1 54 21 0 21 1.0 intronic rs61823525 CAPN8 AU NM_001143962 exon5 c.3394-130G>A 0.682907 0.6687 Uncertain 1_223718518_C->A 1 223718518 223718518 C A snp 1719.77 1/1 99 55 0 55 1.0 intronic rs61823552 CAPN8 AU NM_001143962 exon5 c.3394-74C>A 0.684305 0.6746 Uncertain 1_223718651_G->A 1 223718651 223718651 G A snp 941.77 0/1 99 125 79 46 0.37 exonic rs61823553 CAPN8 AU unknown 0.441094 0.5397 0.455979 0.5019 0.5402 0.01 T 0.000 P -1.185 T 0.998 D 0.828 D Uncertain 1_223718670_G->A 1 223718670 223718670 G A snp 932.77 0/1 99 124 81 43 0.35 intronic rs61823554 CAPN8 AU NM_001143962 exon5 c.3463+9G>A 0.458866 0.5456 0.468901 0.5069 0.5433 Uncertain 1_223722646_-->A 1 223722646 223722646 - A indel 215.74 1/1 30 10 0 10 1.0 intronic rs34630115 CAPN8 AU NM_001143962 exon6 c.7482-34insA 0.613419 0.6369 0.5656 0.5425 Uncertain 1_223722780_G->A 1 223722780 223722780 G A snp 1634.77 0/1 99 124 55 69 0.56 intronic rs34606532 CAPN8 AU NM_001143962 exon6 c.7547+35G>A 0.44349 0.5496 0.456417 0.5061 0.5543 0.03 T 1.000 P Uncertain 1_223724559_G->A 1 223724559 223724559 G A snp 150.77 0/1 99 9 4 5 0.56 intronic rs77191447 CAPN8 AU NM_001143962 exon7 c.9184+177G>A 0.0920527 0.0665 Uncertain 1_223799857_C->T 1 223799857 223799857 C T snp 3281.77 1/1 99 126 1 125 0.99 intronic rs34786756 CAPN8 AU NM_001143962 exon8 c.88471-3812C>T 0.76877 0.6994 Uncertain 1_223799871_C->T 1 223799871 223799871 C T snp 1436.77 0/1 99 128 61 67 0.52 intronic rs35116708 CAPN8 AU NM_001143962 exon8 c.88471-3798C>T 0.545128 0.4752 Uncertain 1_223810318_G->A 1 223810318 223810318 G A snp 86.77 0/1 28 4 1 3 0.75 intronic rs61825177 CAPN8 AU NM_001143962 exon11 c.95318-198G>A 0.395966 0.3532 Uncertain 1_223813299_G->A 1 223813299 223813299 G A snp 165.9 1/1 15 5 0 5 1.0 intronic rs34993691 CAPN8 AU NM_001143962 exon12 c.98308-207G>A 0.604633 0.5675 Uncertain 1_223813586_G->T 1 223813586 223813586 G T snp 2947.77 1/1 99 104 0 104 1.0 exonic rs35539373 CAPN8 AU unknown 0.604233 0.5675 0.579720 0.5895 0.5370 0.06 T 0.900 P -0.954 T 0.998 D 0.939 D Uncertain 1_223814671_A->T 1 223814671 223814671 A T snp 1636.77 1/1 99 54 0 54 1.0 intronic rs61825208 CAPN8 AU NM_001143962 exon13 c.99492-19A>T 0.604034 0.5685 0.579720 0.5998 0.5423 Uncertain 1_223815575_G->A 1 223815575 223815575 G A snp 613.77 1/1 48 17 0 17 1.0 intronic rs34187970 CAPN8 AU NM_001143962 exon14 c.100512-135G>A 0.796526 0.6885 Uncertain 1_223816322_A->G 1 223816322 223816322 A G snp 3182.76 1/1 99 117 0 117 1.0 intronic rs66602040 CAPN8 AU NM_001143962 exon15 c.101165-41A>G 0.796126 0.6925 0.805519 0.7697 0.6634 Uncertain 1_223816347_A->G 1 223816347 223816347 A G snp 4162.77 1/1 99 153 0 153 1.0 intronic rs61825210 CAPN8 AU NM_001143962 exon15 c.101165-16A>G 0.798722 0.6925 0.810118 0.7721 0.6688 Uncertain 1_223816383_G->A 1 223816383 223816383 G A snp 1711.77 0/1 99 186 107 79 0.42 exonic rs71644745 CAPN8 AU unknown 0.0810703 0.0704 0.064827 0.0666 0.0649 0.01 T 1 D -0.849 T 1.0 D 0.999 D Uncertain 1_223816577_T->C 1 223816577 223816577 T C snp 536.77 1/1 42 14 0 14 1.0 intronic rs61825211 CAPN8 AU NM_001143962 exon15 c.101284+95T>C 0.796725 0.6935 Uncertain 1_223841836_C->T 1 223841836 223841836 C T snp 135.03 1/1 12 4 0 4 1.0 intronic rs2105405 CAPN8 AU NM_001143962 exon16 c.126833-195C>T 0.229034 0.244 Uncertain 1_223841877_C->G 1 223841877 223841877 C G snp 920.77 1/1 69 24 0 24 1.0 intronic rs2105406 CAPN8 AU NM_001143962 exon16 c.126833-154C>G 0.390375 0.501 Uncertain 1_223853440_A->G 1 223853440 223853440 A G snp 99.28 1/1 9 3 0 3 1.0 upstream rs10916015 CAPN8 AU 0.932708 0.8472 Uncertain 1_223900408_C->G 1 223900408 223900408 C G snp 5881.77 1/1 99 219 0 219 1.0 exonic rs25655 CAPN2 AU nonsynonymous SNV NM_001748 exon1 c.C66G p.D22E 0.98742 1 0.984440 0.9959 1 1 T 0.031 P -0.952 T 0.0 T 0.0 T Pathogenic 1_223900612_G->A 1 223900612 223900612 G A snp 808.77 0/1 99 50 18 32 0.64 intronic rs2275877 CAPN2 AU NM_001748 exon1 c.237+33G>A 0.151558 0.1786 0.060733 0.1245 0.2720 Uncertain 1_223905532_G->A 1 223905532 223905532 G A snp 1742.77 0/1 99 144 75 69 0.48 exonic rs17596 CAPN2 AU synonymous SNV NM_001146068 exon2 c.G72A p.L24L 0.595447 0.5823 0.662540 0.7173 0.5570 Uncertain 1_223931648_T->C 1 223931648 223931648 T C snp 218.84 1/1 18 7 0 7 1.0 intronic rs1222137 CAPN2 AU NM_001146068 exon3 c.42271-153T>C 0.996805 1 Uncertain 1_223933079_C->T 1 223933079 223933079 C T snp 801.77 0/1 99 92 52 40 0.43 exonic rs17598 CAPN2 AU synonymous SNV NM_001146068 exon4 c.C264T p.L88L 0.27516 0.1905 0.241658 0.1540 0.2098 Uncertain 1_223934720_G->A 1 223934720 223934720 G A snp 919.77 0/1 99 86 42 44 0.51 exonic rs17600 CAPN2 AU synonymous SNV NM_001146068 exon5 c.G348A p.A116A 0.683906 0.7143 0.735737 0.8303 0.6789 Uncertain 1_223936864_G->A 1 223936864 223936864 G A snp 1177.77 0/1 99 96 48 48 0.5 intronic rs10915715 CAPN2 AU NM_001146068 exon6 c.47294+40G>A 0.192891 0.1825 0.156413 0.1297 0.1939 Uncertain 1_223938565_A->C 1 223938565 223938565 A C snp 981.77 0/1 99 103 59 44 0.43 intronic rs1153968 CAPN2 AU NM_001146068 exon7 c.49061-26A>C 0.520168 0.4444 0.466054 0.4423 0.4413 Uncertain 1_223940382_T->C 1 223940382 223940382 T C snp 219.77 0/1 99 30 22 8 0.27 intronic rs1153964 CAPN2 AU NM_001146068 exon9 c.50967-115T>C 0.138379 0.1141 Uncertain 1_223944173_T->C 1 223944173 223944173 T C snp 437.77 0/1 99 24 7 17 0.71 intronic rs1153957 CAPN2 AU NM_001146068 exon10 c.53821+822T>C 0.290136 0.2222 Uncertain 1_223946830_G->A 1 223946830 223946830 G A snp 573.77 0/1 99 40 17 23 0.57 intronic rs1222080 CAPN2 AU NM_001146068 exon12 c.57441-141G>A 0.128594 0.1131 Uncertain 1_223949158_G->A 1 223949158 223949158 G A snp 107.77 0/1 99 19 14 5 0.26 intronic rs6687003 CAPN2 AU NM_001146068 exon13 c.59752-124G>A 0.145966 0.1815 Uncertain 1_223949349_T->C 1 223949349 223949349 T C snp 1404.77 0/1 99 161 98 63 0.39 intronic rs6704537 CAPN2 AU NM_001146068 exon13 c.59789+30T>C 0.0838658 0.1151 0.051668 0.0422 0.1352 Uncertain 1_223951985_C->A 1 223951985 223951985 C A snp 1000.77 0/1 99 97 52 45 0.46 intronic rs737066 CAPN2 AU NM_001146068 exon15 c.62379+76C>A 0.163938 0.1815 Uncertain 1_223959796_G->A 1 223959796 223959796 G A snp 1518.77 0/1 99 111 59 52 0.47 intronic rs1153950 CAPN2 AU NM_001146068 exon20 c.70352-86G>A 0.35024 0.3046 Uncertain 1_223959959_G->A 1 223959959 223959959 G A snp 531.77 0/1 99 71 44 27 0.38 intronic rs1153949 CAPN2 AU NM_001146068 exon20 c.70411+18G>A 0.174321 0.1944 0.126557 0.1105 0.2169 Uncertain 1_223980207_G->C 1 223980207 223980207 G C snp 1999.77 0/1 99 169 83 86 0.51 exonic rs1153936 TP53BP2 AU synonymous SNV NM_001031685 exon15 c.C2880G p.L960L 0.213858 0.1935 0.165231 0.1230 0.2162 Uncertain 1_223989966_C->T 1 223989966 223989966 C T snp 2303.77 0/1 99 198 94 104 0.53 exonic rs1153933 TP53BP2 AU synonymous SNV NM_001031685 exon9 c.G1077A p.S359S 0.212859 0.1935 0.162463 0.1218 0.2161 Uncertain 1_224001904_G->A 1 224001904 224001904 G A snp 1166.77 0/1 99 146 90 56 0.38 intronic rs3753048 TP53BP2 AU NM_005426 exon16 c.33387-37G>A 0.0393371 0.1141 0.001647 0.0257 0.1324 Uncertain 1_224008913_G->A 1 224008913 224008913 G A snp 602.77 0/1 99 57 32 25 0.44 intronic rs3738370 TP53BP2 AU NM_005426 exon18 c.40367-8G>A 0.200479 0.1925 0.142614 0.1167 0.2160 Uncertain 1_224301749_C->T 1 224301749 224301749 C T snp 88.77 0/1 30 5 1 4 0.8 upstream rs6690695 FBXO28 AU 0.45028 0.3968 Uncertain 1_224302154_-->GAG 1 224302154 224302154 - GAG indel 4484.73 1/1 99 83 0 83 1.0 intronic rs3066024 FBXO28 AU NM_001136115 exon1 c.267+56insGAG 0.984824 1 Uncertain 1_224302230_C->G 1 224302230 224302230 C G snp 197.77 0/1 97 9 3 6 0.67 intronic rs2280291 FBXO28 AU NM_001136115 exon1 c.267+132C>G 0.455871 0.4008 Uncertain 1_224318151_-->TTG 1 224318151 224318151 - TTG indel 4242.73 1/1 99 75 0 75 1.0 intronic rs10651854 FBXO28 AU NM_001136115 exon2 c.16342-22insTTG 0.985024 1 0.986264 0.9958 0.9998 Uncertain 1_224321984_C->T 1 224321984 224321984 C T snp 502.77 1/1 39 15 0 15 1.0 intronic rs1472167 FBXO28 AU NM_001136115 exon3 c.20083+70C>T 0.994609 1 Uncertain 1_224345012_G->A 1 224345012 224345012 G A snp 939.77 1/1 69 31 0 31 1.0 intronic rs7543762 FBXO28 AU NM_001136115 exon4 c.43222-41G>A 0.994609 1 0.994615 0.9982 1 Uncertain 1_224380234_A->G 1 224380234 224380234 A G snp 741.77 0/1 99 49 22 27 0.55 UTR3 rs908804 DEGS1 AU 0.191294 0.3581 Uncertain 1_224415616_C->T 1 224415616 224415616 C T snp 99.28 1/1 9 3 0 3 1.0 ncRNA_exonic rs3767731 LOC101927164 AU 0.378994 0.5149 Uncertain 1_224424266_G->A 1 224424266 224424266 G A snp 2771.77 0/1 99 240 122 118 0.49 exonic rs764585473 NVL AU synonymous SNV NM_002533 exon20 c.C2308T p.L770L 9.067e-05 0.0013 1.000 D -0.978 T Likely benign 1_224444628_C->T 1 224444628 224444628 C T snp 3355.77 1/1 99 129 0 129 1.0 intronic rs10799556 NVL AU NM_001243146 exon5 c.22693+6608C>T 0.930911 1 Uncertain 1_224444901_G->C 1 224444901 224444901 G C snp 357.77 1/1 30 10 0 10 1.0 intronic rs2897055 NVL AU NM_001243146 exon5 c.22693+6881G>C 1 1 Uncertain 1_224482216_T->C 1 224482216 224482216 T C snp 551.77 1/1 42 15 0 15 1.0 intronic rs2404783 NVL AU NM_001243146 exon12 c.66786+103T>C 0.821286 0.8899 Uncertain 1_224491264_T->A 1 224491264 224491264 T A snp 267.8 1/1 21 8 0 8 1.0 intronic rs4654018 NVL AU NM_001243146 exon16 c.76097-160T>A 0.989617 1 Uncertain 1_224492381_C->T 1 224492381 224492381 C T snp 1166.77 1/1 84 40 0 40 1.0 intronic rs7522125 NVL AU NM_001243146 exon17 c.77110-56C>T 0.989617 1 0.989269 Uncertain 1_224492746_C->T 1 224492746 224492746 C T snp 7168.77 1/1 99 250 0 250 1.0 exonic rs3754090 NVL AU synonymous SNV NM_002533 exon7 c.G738A p.L246L 0.820088 0.8899 0.825235 0.9137 0.8982 0.239 P -1.032 T Likely benign 1_224495852_C->T 1 224495852 224495852 C T snp 6841.77 1/1 99 250 0 250 1.0 exonic rs7534447 NVL AU synonymous SNV NM_002533 exon6 c.G456A p.R152R 0.821685 0.8899 0.827157 0.9143 0.8986 Uncertain 1_224505570_-->AA 1 224505570 224505570 - AA indel 3730.73 1/1 99 75 0 75 1.0 intronic rs3066969 NVL AU NM_001243146 exon20 c.90252-9insAA 1 1 0.999680 0.9998 1 Uncertain 1_224505719_T->G 1 224505719 224505719 T G snp 258.8 1/1 21 8 0 8 1.0 intronic rs4436353 NVL AU NM_001243146 exon20 c.90305+87T>G 0.993411 1 Uncertain 1_224514275_G->A 1 224514275 224514275 G A snp 491.77 1/1 39 14 0 14 1.0 intronic rs4653578 NVL AU NM_002533 exon22 c.98839+109G>A 1 1 Uncertain 1_224517842_C->T 1 224517842 224517842 C T snp 4700.77 1/1 99 181 0 181 1.0 UTR5 rs2896990 NVL AU 0.829872 0.8899 0.833308 0.9164 0.8985 Uncertain 1_224517907_A->T 1 224517907 224517907 A T snp 2892.77 1/1 99 101 1 100 0.99 upstream rs4146965 NVL AU 0.820288 0.8899 Uncertain 1_224544529_A->G 1 224544529 224544529 A G snp 1306.77 1/1 96 34 0 34 1.0 UTR5 rs7517754 CNIH4 AU 0.731629 0.9891 Uncertain 1_224577599_C->G 1 224577599 224577599 C G snp 56.77 0/1 85 46 27 19 0.41 intronic rs746568623 WDR26 AU NM_001115113 exon1 c.26+37C>G 0.0166 0.0042 Uncertain 1_224600910_C->A 1 224600910 224600910 C A snp 470.77 1/1 36 21 1 20 0.95 intronic rs10916612 WDR26 AU NM_001115113 exon8 c.21731+1643C>A 0.931909 0.9921 Uncertain 1_224600920_C->A 1 224600920 224600920 C A snp 578.77 1/1 42 22 0 22 1.0 intronic rs10916613 WDR26 AU NM_001115113 exon8 c.21731+1653C>A 0.991214 1 Uncertain 1_224621368_G->C 1 224621368 224621368 G C snp 1035.77 1/1 75 34 0 34 1.0 intronic rs2405033 WDR26 AU NM_001115113 exon14 c.43849-17G>C 1 1 0.999781 1 1 Uncertain 1_225084219_C->T 1 225084219 225084219 C T snp 34.77 0/1 63 7 5 2 0.29 intergenic rs12563323 CNIH3 AU 0.165335 0.2401 Uncertain 1_225111228_T->A 1 225111228 225111228 T A snp 305.77 0/1 99 21 9 12 0.57 intergenic rs16858299 CNIH3 AU 0.148962 0.2252 Uncertain 1_225117561_T->C 1 225117561 225117561 T C snp 740.77 0/1 99 52 23 29 0.56 intronic rs2501078 DNAH14 AU 0.29373 0.2391 0.2191 0.2717 Uncertain 1_225155114_A->T 1 225155114 225155114 A T snp 114.77 0/1 64 7 2 5 0.71 intronic rs2501155 DNAH14 AU NM_001145154 exon6 c.14728-18A>T 0.195887 0.1508 0.1402 0.2879 Uncertain 1_225156655_C->T 1 225156655 225156655 C T snp 475.77 0/1 99 31 11 20 0.65 intronic rs10495229 DNAH14 AU NM_001145154 exon7 c.16172+79C>T 0.110423 0.2222 Uncertain 1_225156712_C->T 1 225156712 225156712 C T snp 161.77 0/1 57 8 2 6 0.75 intronic rs16858932 DNAH14 AU NM_001145154 exon7 c.16172+136C>T 0.110423 0.2222 Uncertain 1_225195135_T->G 1 225195135 225195135 T G snp 824.77 0/1 99 75 38 37 0.49 exonic DNAH14 AU stopgain NM_001373 exon10 c.T996G p.Y332X 1 T 1 D Pathogenic 1_225211263_C->A 1 225211263 225211263 C A snp 107.77 0/1 99 17 11 6 0.35 intronic rs12563857 DNAH14 AU NM_001145154 exon11 c.70912-53C>A 0.110623 0.2232 Uncertain 1_225230608_C->T 1 225230608 225230608 C T snp 951.77 0/1 99 90 50 40 0.44 exonic rs2501107 DNAH14 AU synonymous SNV NM_001373 exon13 c.C1560T p.C520C 0.701278 0.7212 0.824354 0.8659 0.6833 Uncertain 1_225266966_C->G 1 225266966 225266966 C G snp 393.77 0/1 99 32 18 14 0.44 exonic rs3105559 DNAH14 AU nonsynonymous SNV NM_001373 exon18 c.C2482G p.L828V 0.702276 0.7212 0.826611 0.8654 0.6833 1 T 1.000 P -0.962 T 0.0 T 0.0 T Pathogenic 1_225268343_A->G 1 225268343 225268343 A G snp 1554.77 0/1 99 170 107 63 0.37 exonic rs3128651 DNAH14 AU nonsynonymous SNV NM_001373 exon19 c.A3029G p.K1010R 0.703275 0.7262 0.826763 0.8654 0.6857 0.56 T 0.000 P -0.999 T 0.0 T 0.0 T Pathogenic 1_225268346_G->A 1 225268346 225268346 G A snp 1404.77 0/1 99 164 103 61 0.37 exonic rs3128652 DNAH14 AU nonsynonymous SNV NM_001373 exon19 c.G3032A p.R1011Q 0.702676 0.7262 0.826763 0.8663 0.6857 0.59 T 0.0 P -1.022 T 0.0 T 0.0 T Pathogenic 1_225270409_A->T 1 225270409 225270409 A T snp 580.77 0/1 99 46 20 26 0.57 exonic rs3128655 DNAH14 AU nonsynonymous SNV NM_001373 exon20 c.A3295T p.N1099Y 0.662141 0.7133 0.761717 0.8020 0.6780 0.08 T 0.000 P -0.990 T 0.965 D 0.66 D Pathogenic 1_225273248_G->T 1 225273248 225273248 G T snp 665.77 0/1 99 55 27 28 0.51 exonic rs3128658 DNAH14 AU nonsynonymous SNV NM_001373 exon21 c.G3330T p.M1110I 0.702077 0.7202 0.825132 0.8666 0.6855 0.17 T 1.000 P -1.011 T 0.11 T 0.082 T Pathogenic 1_225288534_A->C 1 225288534 225288534 A C snp 463.77 0/1 99 36 18 18 0.5 exonic rs3105571 DNAH14 AU nonsynonymous SNV NM_001373 exon23 c.A3815C p.E1272A 0.124201 0.2232 0.045614 0.0748 0.2671 0.09 T 0.332 P -1.116 T 0.573 P 0.23 P Pathogenic 1_225305572_C->G 1 225305572 225305572 C G snp 1115.77 0/1 99 103 56 47 0.46 intronic rs16843988 DNAH14 AU NM_001373 exon25 c.165178-10C>G 0.112021 0.2232 0.035480 0.0700 0.2653 Uncertain 1_225311428_T->- 1 225311428 225311428 T - indel 318.73 0/1 99 28 13 15 0.54 intronic rs398074688 DNAH14 AU NM_001373 exon26 c.166592+4432delT 0.130591 0.2232 Uncertain 1_225334800_T->A 1 225334800 225334800 T A snp 317.77 0/1 88 19 4 15 0.79 splicing rs1480104 DNAH14 AU NM_001373 exon30 c.194401-5T>A 0.1248 0.2232 0.014023 0.0764 0.2955 Pathogenic 1_225335028_-->T 1 225335028 225335028 - T indel 465.73 0/1 99 35 16 19 0.54 intronic rs398074689 DNAH14 AU NM_001373 exon30 c.194547+77insT 0.292532 0.2788 Uncertain 1_225341687_A->G 1 225341687 225341687 A G snp 837.77 0/1 99 68 33 35 0.51 intronic rs16844377 DNAH14 AU NM_001373 exon33 c.201124+159A>G 0.176318 0.2202 Uncertain 1_225355902_A->G 1 225355902 225355902 A G snp 40.77 0/1 33 3 1 2 0.67 intronic rs7518395 DNAH14 AU NM_001373 exon35 c.215326+172A>G 0.430511 0.6012 Uncertain 1_225439988_T->C 1 225439988 225439988 T C snp 842.77 0/1 99 88 52 36 0.41 intronic rs630120 DNAH14 AU NM_001373 exon44 c.299598-14T>C 0.485024 0.5982 0.347350 0.3252 0.6559 Uncertain 1_225445652_G->T 1 225445652 225445652 G T snp 683.77 0/1 99 70 43 27 0.39 intronic rs670255 DNAH14 AU NM_001373 exon45 c.305257-9G>T 0.485024 0.5982 0.324354 0.3248 0.6637 Uncertain 1_225446805_G->C 1 225446805 225446805 G C snp 1002.77 0/1 99 130 81 49 0.38 intronic rs183102697 DNAH14 AU NM_001373 exon46 c.306418-17G>C 0.000798722 0.004 0.0002 0.0048 Uncertain 1_225446838_G->A 1 225446838 225446838 G A snp 1243.77 0/1 99 144 87 57 0.4 exonic rs41303311 DNAH14 AU nonsynonymous SNV NM_001373 exon46 c.G7022A p.G2341E 0.0261581 0.0337 0.017083 0.0302 0.0322 0 D 1 D 0.291 D 0.93 T 0.653 D Pathogenic 1_225460626_T->A 1 225460626 225460626 T A snp 846.77 0/1 99 51 20 31 0.61 intronic rs656649 DNAH14 AU NM_001373 exon52 c.320252-30T>A 0.442093 0.6438 0.208589 0.3483 0.6816 Uncertain 1_225477491_C->T 1 225477491 225477491 C T snp 143.03 1/1 12 5 0 5 1.0 intronic rs12024361 DNAH14 AU NM_001373 exon53 c.337182-95C>T 0.338458 0.4484 Uncertain 1_225477546_A->C 1 225477546 225477546 A C snp 848.77 1/1 63 26 0 26 1.0 intronic rs12042076 DNAH14 AU NM_001373 exon53 c.337182-40A>C 0.338658 0.4484 0.293693 0.3509 0.4695 Uncertain 1_225477793_T->G 1 225477793 225477793 T G snp 617.77 1/1 45 21 0 21 1.0 intronic rs12042900 DNAH14 AU NM_001373 exon53 c.337380+9T>G 0.338458 0.4484 0.294131 0.3935 0.4680 Uncertain 1_225492545_A->G 1 225492545 225492545 A G snp 381.77 1/1 30 11 0 11 1.0 intronic rs1995482 DNAH14 AU NM_001373 exon56 c.352205-64A>G 0.325679 0.4415 Uncertain 1_225492845_C->T 1 225492845 225492845 C T snp 507.77 1/1 39 17 0 17 1.0 intronic rs12034925 DNAH14 AU NM_001373 exon56 c.352387+54C>T 0.338059 0.4415 Uncertain 1_225506294_A->G 1 225506294 225506294 A G snp 5019.77 1/1 99 189 0 189 1.0 exonic rs10495237 DNAH14 AU nonsynonymous SNV NM_001373 exon59 c.A8971G p.N2991D 0.149161 0.2569 0.093079 0.0898 0.2952 0.43 T 1.000 P -1.093 T 0.038 T 0.023 T Pathogenic 1_225510564_C->T 1 225510564 225510564 C T snp 1735.77 1/1 99 57 1 56 0.98 intronic rs67676118 DNAH14 AU NM_001373 exon60 c.370121+39C>T 0.125599 0.252 0.068988 0.0869 0.2869 Uncertain 1_225519481_A->T 1 225519481 225519481 A T snp 302.78 1/1 24 8 0 8 1.0 intronic rs72750816 DNAH14 AU NM_001373 exon63 c.378875+202A>T 0.13099 0.252 Uncertain 1_225525698_-->T 1 225525698 225525698 - T indel 195.74 1/1 27 9 0 9 1.0 intronic rs34298762 DNAH14 AU NM_001373 exon66 c.385358-64insT 0.156949 0.2569 Uncertain 1_225528486_G->A 1 225528486 225528486 G A snp 431.77 1/1 33 11 0 11 1.0 intronic rs16844711 DNAH14 AU NM_001373 exon67 c.387999+83G>A 0.151757 0.252 Uncertain 1_225533731_T->A 1 225533731 225533731 T A snp 6100.77 1/1 99 215 0 215 1.0 exonic rs12742757 DNAH14 AU synonymous SNV NM_001373 exon68 c.T10467A p.I3489I 0.152356 0.253 0.091765 0.0889 0.2922 Uncertain 1_225539665_T->A 1 225539665 225539665 T A snp 852.77 1/1 63 24 0 24 1.0 intronic rs3856150 DNAH14 AU NM_001373 exon70 c.399181+80T>A 0.710663 0.7698 Uncertain 1_225541649_A->G 1 225541649 225541649 A G snp 625.77 1/1 48 26 0 26 1.0 intronic rs3915578 DNAH14 AU NM_001373 exon71 c.401186+59A>G 0.152356 0.253 0.087980 Uncertain 1_225541899_C->T 1 225541899 225541899 C T snp 2218.77 1/1 99 69 0 69 1.0 intronic rs3915579 DNAH14 AU NM_001373 exon71 c.401186+309C>T 0.152356 0.253 0.0722 0.3158 0.02 T 0.000 P -1.022 T Uncertain 1_225545301_A->T 1 225545301 225545301 A T snp 44.74 1/1 6 2 0 2 1.0 intronic rs199771652 DNAH14 AU NM_001373 exon72 c.405793-896A>T Uncertain 1_225545580_A->C 1 225545580 225545580 A C snp 3327.77 1/1 99 111 0 111 1.0 intronic rs12745950 DNAH14 AU NM_001373 exon72 c.405793-617A>C 0.450479 0.5893 0.3450 0.6667 Uncertain 1_225546172_C->G 1 225546172 225546172 C G snp 393.77 1/1 30 13 0 13 1.0 intronic rs9659299 DNAH14 AU NM_001373 exon72 c.405793-25C>G 0.450879 0.5893 0.351689 0.3859 0.6466 Uncertain 1_225552624_G->A 1 225552624 225552624 G A snp 851.77 1/1 60 35 0 35 1.0 intronic rs10495239 DNAH14 AU NM_001373 exon74 c.412192+28G>A 0.481829 0.5962 0.390933 0.4027 0.6629 Uncertain 1_225552650_C->T 1 225552650 225552650 C T snp 644.77 1/1 48 21 0 21 1.0 intronic rs12563830 DNAH14 AU NM_001373 exon74 c.412192+54C>T 0.48143 0.5952 Uncertain 1_225562385_C->T 1 225562385 225562385 C T snp 2101.77 1/1 99 79 0 79 1.0 splicing rs10915816 DNAH14 AU NM_001373 exon76 c.421985-4C>T 0.709665 0.9663 0.723390 0.7486 0.9484 Pathogenic 1_225565015_T->C 1 225565015 225565015 T C snp 1416.77 0/1 99 135 73 62 0.46 exonic rs3856154 DNAH14 AU nonsynonymous SNV NM_001373 exon77 c.T12287C p.L4096P 0.55631 0.7619 0.561761 0.5572 0.7283 0.32 T 0.000 P -1.087 T 0.0 T 0.001 T Pathogenic 1_225565073_C->T 1 225565073 225565073 C T snp 1132.77 0/1 99 112 60 52 0.46 exonic rs3856155 DNAH14 AU synonymous SNV NM_001373 exon77 c.C12345T p.G4115G 0.491813 0.7411 0.490145 0.5003 0.7055 Uncertain 1_225569241_T->G 1 225569241 225569241 T G snp 1286.77 0/1 99 65 20 45 0.69 exonic rs950210 DNAH14 AU nonsynonymous SNV NM_001373 exon79 c.T12731G p.F4244C 0.528355 0.7639 0.531975 0.5483 0.7299 0.16 T 0.0 P -1.083 T 0.0 T 0.0 T Pathogenic 1_225576058_T->C 1 225576058 225576058 T C snp 1086.77 0/1 99 91 46 45 0.49 intronic rs6679430 DNAH14 AU NM_001373 exon80 c.435676-22T>C 0.525958 0.7639 0.529785 0.5487 0.7289 Uncertain 1_225576311_A->G 1 225576311 225576311 A G snp 1513.77 0/1 99 112 48 64 0.57 intronic rs10753405 DNAH14 AU NM_001373 exon80 c.435789+118A>G 0.490615 0.7411 Uncertain 1_225577648_C->T 1 225577648 225577648 C T snp 779.77 0/1 99 40 15 25 0.63 intronic rs12134158 DNAH14 AU NM_001373 exon81 c.437171+73C>T 0.490815 0.7371 Uncertain 1_225579918_A->T 1 225579918 225579918 A T snp 436.77 0/1 99 22 9 13 0.59 intronic rs41268717 DNAH14 AU NM_001373 exon82 c.439588-74A>T 0.0902556 0.0655 Uncertain 1_225594516_T->C 1 225594516 225594516 T C snp 2155.77 0/1 99 193 99 94 0.49 exonic rs148033978 LBR AR,AD nonsynonymous SNV NM_002296 exon11 c.A1333G p.M445V 0.000077 2.48e-05 0 0.08 T 0.981 D 1.108 D 0.986 D 0.93 D Pathogenic 1_225597846_A->G 1 225597846 225597846 A G snp 48.74 1/1 6 2 0 2 1.0 intronic rs1011319 LBR AR,AD NM_194442 exon5 c.6988-146A>G 0.722644 0.9643 Uncertain 1_225601647_C->T 1 225601647 225601647 C T snp 3335.77 1/1 99 117 0 117 1.0 intronic rs3766928 LBR AR,AD NM_194442 exon7 c.9343+1300C>T 0.580871 0.8552 0.5864 0.8687 Uncertain 1_225603103_C->T 1 225603103 225603103 C T snp 141.03 1/1 12 4 0 4 1.0 intronic rs6702433 LBR AR,AD NM_194442 exon8 c.12030+69C>T 0.711861 0.9643 Uncertain 1_225607144_C->T 1 225607144 225607144 C T snp 637.77 1/1 48 19 0 19 1.0 exonic rs2230419 LBR AR,AD nonsynonymous SNV NM_002296 exon5 c.G461A p.S154N 0.71226 0.9633 0.703291 0.8009 0.9561 0.53 T 0.0 P -1.020 T 0.014 T 0.01 T Pathogenic 1_225609884_A->G 1 225609884 225609884 A G snp 1111.77 1/1 81 38 0 38 1.0 exonic rs1056608 LBR AR,AD synonymous SNV NM_002296 exon3 c.T261C p.P87P 0.670927 0.9018 0.659157 0.7502 0.8991 Uncertain 1_225611661_C->T 1 225611661 225611661 C T snp 1081.77 0/1 99 105 57 48 0.46 exonic rs1056607 LBR AR,AD synonymous SNV NM_002296 exon2 c.G117A p.V39V 0.657149 0.744 0.698985 0.7112 0.7676 Uncertain 1_225611845_C->T 1 225611845 225611845 C T snp 622.77 0/1 99 53 28 25 0.47 intronic rs1340867 LBR AR,AD NM_194442 exon13 c.20787+54C>T 0.601837 0.751 Uncertain 1_225685622_AAG->- 1 225685622 225685624 AAG - indel 486.73 0/1 99 22 10 12 0.55 intronic rs145776060 ENAH AU NM_018212 exon1 c.38+108_38+110delAAG 0.635982 0.7034 Uncertain 1_225686025_T->C 1 225686025 225686025 T C snp 347.77 0/1 99 21 7 14 0.67 intronic rs2297747 ENAH AU NM_018212 exon2 c.572-23T>C 0.0323482 0.0784 0.011619 0.0262 0.0815 Uncertain 1_225699681_G->A 1 225699681 225699681 G A snp 281.77 0/1 96 15 4 11 0.73 intronic rs2184778 ENAH AU NM_018212 exon5 c.14085+120G>A 0.108227 0.1042 Uncertain 1_225702610_A->G 1 225702610 225702610 A G snp 414.77 0/1 99 59 37 22 0.37 intronic rs151230297 ENAH AU NM_018212 exon8 c.17126+8A>G 0.0325479 0.0784 0.011610 0.0246 0.0802 Uncertain 1_226016633_G->A 1 226016633 226016633 G A snp 212.77 0/1 99 32 22 10 0.31 intronic rs3738047 EPHX1 AU,AD NM_000120 exon2 c.183+20G>A 0.120607 0.2639 0.061285 0.1361 0.2972 Uncertain 1_226019633_T->C 1 226019633 226019633 T C snp 1461.77 0/1 99 114 50 64 0.56 exonic rs1051740 EPHX1 AU,AD nonsynonymous SNV NM_000120 exon3 c.T337C p.Y113H 0.313299 0.4821 0.257804 0.3134 0.4559 0 D 1.000 P -0.886 T 0.998 D 0.986 D CLINSIG=other|other|other|other;CLNDBN=Lymphoproliferative_disorders\x2c_susceptibility_to|Preeclampsia\x2c_susceptibility_to|Emphysema\x2c_susceptibility_to|Pulmonary_disease\x2c_chronic_obstructive\x2c_susceptibility_to;CLNREVSTAT=no_assertion_criteria_provided|no_assertion_criteria_provided|no_assertion_criteria_provided|no_assertion_criteria_provided;CLNACC=RCV000018075.1|RCV000018076.1|RCV000018077.1|RCV000018078.1;CLNDSDB=MedGen|.|.|.;CLNDSDBID=C1851509|.|.|. ID=CM940369;DIS=Epoxide hydrolase deficiency, association with;TAG=DFP;PUB=7516776 DFP Pathogenic 1_226019774_G->C 1 226019774 226019774 G C snp 870.77 1/1 63 30 0 30 1.0 intronic rs2260863 EPHX1 AU,AD NM_000120 exon3 c.3230+114G>C 0.74361 0.9494 Uncertain 1_226026406_A->G 1 226026406 226026406 A G snp 2887.77 0/1 99 210 90 120 0.57 exonic rs2234922 EPHX1 AU,AD nonsynonymous SNV NM_000120 exon4 c.A416G p.H139R 0.215455 0.1181 0.249654 0.1963 0.1284 0.62 T 0.0 P -0.956 T 0.0 T 0.0 T CLINSIG=non-pathogenic;CLNDBN=EPOXIDE_HYDROLASE_POLYMORPHISM;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000018079.1;CLNDSDB=.;CLNDSDBID=. ID=CM024366;DIS=Preeclampsia, association with;TAG=DFP;PUB=12173035 DFP Pathogenic 1_226026645_C->T 1 226026645 226026645 C T snp 1136.77 0/1 99 92 47 45 0.49 intronic rs4149224 EPHX1 AU,AD NM_000120 exon4 c.10152+63C>T 0.00159744 0.0069 Uncertain 1_226027067_-->GTGTGT 1 226027067 226027067 - GTGTGT indel 504.73 0/1 99 48 10 38 0.79 intronic EPHX1 AU,AD NM_000120 exon5 c.10617+20insGTGTGT Uncertain 1_226032229_C->T 1 226032229 226032229 C T snp 2512.77 0/1 99 248 145 103 0.42 exonic rs1051741 EPHX1 AU,AD synonymous SNV NM_000120 exon8 c.C1071T p.N357N 0.126398 0.1141 0.106566 0.1119 0.1244 Uncertain 1_226034909_G->A 1 226034909 226034909 G A snp 2121.77 0/1 99 205 110 95 0.46 exonic rs41441645 TMEM63A AU synonymous SNV NM_014698 exon24 c.C2256T p.Y752Y 0.0225639 0.0863 0.013771 0.0176 0.1068 Uncertain 1_226036309_A->G 1 226036309 226036309 A G snp 1652.77 0/1 99 143 75 68 0.48 intronic rs360063 TMEM63A AU NM_014698 exon3 c.1515+54A>G 0.695088 0.6935 0.658125 Uncertain 1_226040404_C->T 1 226040404 226040404 C T snp 661.77 0/1 99 60 32 28 0.47 exonic rs1009668 TMEM63A AU nonsynonymous SNV NM_014698 exon20 c.G1864A p.V622M 0.0732827 0.0933 0.073428 0.1091 0.0958 0.62 T 1.0 P -0.988 T 0.002 T 0.003 T ID=CM1311285;DIS=Lower sST2 levels, association with;TAG=DP;PUB=23999434 DP Pathogenic 1_226040526_T->C 1 226040526 226040526 T C snp 724.77 0/1 99 58 28 30 0.52 intronic rs2292557 TMEM63A AU NM_014698 exon6 c.5730+56T>C 0.0223642 0.0883 Uncertain 1_226044489_-->C 1 226044489 226044489 - C indel 1048.73 1/1 87 32 0 32 1.0 intronic rs397790336 TMEM63A AU NM_014698 exon9 c.9699+50insC 1 1 0.999840 0.9999 0.9998 Uncertain 1_226044766_G->A 1 226044766 226044766 G A snp 568.77 0/1 99 31 12 19 0.61 intronic rs9919303 TMEM63A AU NM_014698 exon10 c.9977+49G>A 0.437899 0.5179 0.349669 0.3652 0.5628 Uncertain 1_226048745_A->- 1 226048745 226048745 A - indel 1043.73 0/1 99 64 33 31 0.48 intronic rs3215221 TMEM63A AU NM_014698 exon12 c.13957+48delA 0.310304 0.3194 0.340920 0.3868 0.3058 Uncertain 1_226053805_G->A 1 226053805 226053805 G A snp 371.77 0/1 99 33 18 15 0.45 intronic rs7515156 TMEM63A AU NM_014698 exon16 c.18927+138G>A 0.304712 0.4077 Uncertain 1_226054656_G->A 1 226054656 226054656 G A snp 339.78 1/1 27 9 0 9 1.0 intronic rs360084 TMEM63A AU NM_014698 exon18 c.20071-155G>A 0.858826 0.8423 Uncertain 1_226054681_T->A 1 226054681 226054681 T A snp 803.77 1/1 60 22 0 22 1.0 intronic rs360085 TMEM63A AU NM_014698 exon18 c.20071-130T>A 0.967652 1 Uncertain 1_226054714_G->A 1 226054714 226054714 G A snp 767.77 0/1 99 50 20 30 0.6 intronic rs2292563 TMEM63A AU NM_014698 exon18 c.20071-97G>A 0.469649 0.5169 Uncertain 1_226055595_G->A 1 226055595 226055595 G A snp 926.77 0/1 99 76 33 43 0.57 exonic rs2292564 TMEM63A AU synonymous SNV NM_014698 exon7 c.C507T p.D169D 0.430112 0.5188 0.339997 0.3353 0.5411 Uncertain 1_226074563_T->G 1 226074563 226074563 T G snp 723.77 0/1 99 72 43 29 0.4 exonic rs360057 LEFTY1 AU nonsynonymous SNV NM_020997 exon4 c.A965C p.D322A 0.254792 0.2073 0.300938 0.3359 0.1804 0.41 T 0.000 P -0.965 T 0.0 T 0.0 T Pathogenic 1_226108200_C->T 1 226108200 226108200 C T snp 207.77 0/1 99 23 14 9 0.39 exonic rs73131849 PYCR2 AR synonymous SNV NM_013328 exon7 c.G918A p.G306G 0.172524 0.0833 0.197601 0.1780 0.0926 Uncertain 1_226109473_G->A 1 226109473 226109473 G A snp 701.77 0/1 99 61 36 25 0.41 intronic rs147519768 PYCR2 AR NM_013328 exon4 c.1403-84G>A 0.00419329 0.0208 Uncertain 1_226125385_G->A 1 226125385 226125385 G A snp 537.77 0/1 99 67 41 26 0.39 exonic rs2295418 LEFTY2 AU nonsynonymous SNV NM_003240 exon4 c.C857T p.P286L 0.0511182 0.1052 0.026065 0.0424 0.1008 0 D 1.000 P -0.636 T 1.0 D 1.0 D CLINSIG=non-pathogenic;CLNDBN=not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000126616.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Pathogenic 1_226125543_-->A 1 226125543 226125543 - A indel 460.73 1/1 36 12 0 12 1.0 intronic rs397691660 LEFTY2 AU NM_003240 exon1 c.364+39insA 1 1 0.999600 1.0000 0.9999 Uncertain 1_226127443_G->C 1 226127443 226127443 G C snp 461.77 0/1 99 33 18 15 0.45 intronic rs74578461 LEFTY2 AU NM_003240 exon3 c.2315-12G>C 0.291733 0.1518 0.253180 0.3440 0.1792 CLINSIG=non-pathogenic;CLNDBN=not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000126614.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Uncertain 1_226180814_TTC->- 1 226180814 226180816 TTC - indel 171.73 0/1 99 15 7 8 0.53 intronic rs151278173 SDE2 AU NM_152608 exon5 c.7701+111_7701+113delTTC Uncertain 1_226182800_A->G 1 226182800 226182800 A G snp 173.77 0/1 99 13 6 7 0.54 intronic rs4653702 SDE2 AU NM_152608 exon6 c.9964-166A>G 0.321286 0.2609 Uncertain 1_226252232_C->T 1 226252232 226252232 C T snp 1055.77 1/1 75 40 0 40 1.0 ncRNA_intronic rs2036870 H3F3AP4 AU 0.982628 1 0.979084 0.9949 1 Uncertain 1_226253127_T->G 1 226253127 226253127 T G snp 54.74 1/1 6 2 0 2 1.0 ncRNA_intronic rs1511056 H3F3AP4 AU 0.97524 1 Uncertain 1_226253316_G->T 1 226253316 226253316 G T snp 1376.77 1/1 96 56 0 56 1.0 ncRNA_intronic rs1849032 H3F3AP4 AU 0.982628 1 0.979317 0.9948 1 Uncertain 1_226334578_G->A 1 226334578 226334578 G A snp 2206.77 1/1 99 76 0 76 1.0 intronic rs1219666 ACBD3 AU NM_022735 exon1 c.212+56G>A 0.999601 1 Uncertain 1_226352498_T->G 1 226352498 226352498 T G snp 5751.77 1/1 99 225 1 224 1.0 exonic rs2306120 ACBD3 AU nonsynonymous SNV NM_022735 exon3 c.A561C p.E187D 0.53115 0.4504 0.598954 0.5747 0.4270 0.38 T 0.646 P -1.048 T 0.612 T 0.237 P Pathogenic 1_226353521_T->A 1 226353521 226353521 T A snp 6166.77 1/1 99 226 2 224 0.99 intronic rs2306121 ACBD3 AU NM_022735 exon7 c.19249-38T>A 0.412939 0.37 0.452176 0.4179 0.3533 Uncertain 1_226411317_C->T 1 226411317 226411317 C T snp 1228.77 1/1 87 51 0 51 1.0 upstream rs10915962 MIXL1 AU 0.618211 0.6994 Uncertain 1_226420040_T->C 1 226420040 226420040 T C snp 373.77 0/1 99 18 7 11 0.61 UTR3 rs61836886 LIN9 AU 0.117412 0.3075 Uncertain 1_226420722_A->G 1 226420722 226420722 A G snp 395.77 1/1 30 13 0 13 1.0 intronic rs2306119 LIN9 AU NM_173083 exon2 c.595-74A>G 0.401358 0.5446 Uncertain 1_226438449_T->C 1 226438449 226438449 T C snp 474.77 1/1 36 14 0 14 1.0 intronic rs6678137 LIN9 AU NM_173083 exon5 c.18338-90T>C 0.858626 0.9593 Uncertain 1_226474132_G->A 1 226474132 226474132 G A snp 1289.77 1/1 90 53 0 53 1.0 exonic rs10799347 LIN9 AU synonymous SNV NM_001270409 exon5 c.C369T p.F123F 0.707468 0.745 0.704615 0.7070 0.7391 Uncertain 1_226485327_-->T 1 226485327 226485327 - T indel 2018.73 1/1 99 61 0 61 1.0 intronic rs11390947 LIN9 AU NM_173083 exon13 c.65218-92insT 0.632588 0.7123 Uncertain 1_226550741_C->T 1 226550741 226550741 C T snp 1483.77 0/1 99 130 70 60 0.46 intronic rs747659 PARP1 AU NM_001618 exon3 c.1639-58C>T 0.256589 0.3125 0.234779 Uncertain 1_226552631_T->C 1 226552631 226552631 T C snp 150.77 0/1 99 8 3 5 0.63 intronic rs375896690 PARP1 AU NM_001618 exon5 c.3542-71T>C 0.000998403 0.005 Uncertain 1_226555302_A->G 1 226555302 226555302 A G snp 935.77 0/1 99 93 50 43 0.46 exonic rs1136410 PARP1 AU nonsynonymous SNV NM_001618 exon17 c.T2285C p.V762A 0.196885 0.4365 0.123328 0.2018 0.4376 0.24 T 1.0 P -0.836 T 0.728 T 0.731 P ID=CM042761;DIS=Prostate cancer, susceptibility, association with;TAG=DFP;PUB=15342424 DFP Pathogenic 1_226556094_T->C 1 226556094 226556094 T C snp 1825.77 1/1 99 66 0 66 1.0 intronic rs1805400 PARP1 AU NM_001618 exon8 c.6862+72T>C 0.986422 1 Uncertain 1_226558271_G->A 1 226558271 226558271 G A snp 877.77 0/1 99 66 35 31 0.47 intronic rs73089862 PARP1 AU NM_001618 exon9 c.9058+53G>A 0.00838658 0.005 0.008322 Uncertain 1_226566726_A->C 1 226566726 226566726 A C snp 124.77 0/1 60 8 3 5 0.63 intronic rs907190 PARP1 AU NM_001618 exon12 c.17682-116A>C 0.741214 0.5179 Uncertain 1_226567008_C->G 1 226567008 226567008 C G snp 1128.77 0/1 99 135 84 51 0.38 intronic rs732284 PARP1 AU NM_001618 exon12 c.17815+33C>G 0.246406 0.3125 0.231662 0.1913 0.3407 Uncertain 1_226567554_C->T 1 226567554 226567554 C T snp 342.77 0/1 46 14 2 12 0.86 intronic rs2271344 PARP1 AU NM_001618 exon14 c.18462-68C>T 0.0309505 0.1458 Uncertain 1_226567563_C->G 1 226567563 226567563 C G snp 379.77 0/1 99 18 4 14 0.78 intronic rs2271343 PARP1 AU NM_001618 exon14 c.18462-59C>G 0.283946 0.3581 Uncertain 1_226570840_T->C 1 226570840 226570840 T C snp 334.77 0/1 99 30 15 15 0.5 exonic rs1805415 PARP1 AU synonymous SNV NM_001618 exon8 c.A1056G p.K352K 0.789337 0.5635 0.860065 0.7939 0.5649 Uncertain 1_226573364_A->G 1 226573364 226573364 A G snp 2898.77 1/1 99 105 0 105 1.0 exonic rs1805414 PARP1 AU synonymous SNV NM_001618 exon7 c.T852C p.A284A 0.516573 0.7946 0.407735 0.4228 0.8053 ID=CM071915;DIS=Colorectal adenoma, association with;TAG=DP;PUB=17283177 DP Uncertain 1_226573402_T->C 1 226573402 226573402 T C snp 673.77 0/1 99 71 43 28 0.39 intronic rs1805408 PARP1 AU NM_001618 exon17 c.24221+21T>C 0.262979 0.3125 0.249116 0.1965 0.3389 Uncertain 1_226576270_A->G 1 226576270 226576270 A G snp 1497.77 0/1 99 144 78 66 0.46 intronic rs2255403 PARP1 AU NM_001618 exon19 c.27196-86A>G 0.252196 0.4841 Uncertain 1_226576296_G->A 1 226576296 226576296 G A snp 1970.77 0/1 99 174 85 89 0.51 intronic rs2293464 PARP1 AU NM_001618 exon19 c.27196-60G>A 0.255391 0.3115 Uncertain 1_226578099_T->C 1 226578099 226578099 T C snp 378.77 1/1 30 10 0 10 1.0 intronic rs1805403 PARP1 AU NM_001618 exon20 c.28950-11T>C 0.857628 0.9315 0.823312 0.8059 0.9365 Uncertain 1_226580021_G->T 1 226580021 226580021 G T snp 850.77 0/1 99 63 32 31 0.49 splicing rs1805405 PARP1 AU NM_001618 exon21 c.30855+6G>T 0.255791 0.3125 0.241735 0.1944 0.3388 Pathogenic 1_226580093_C->T 1 226580093 226580093 C T snp 288.77 0/1 99 25 13 12 0.48 intronic rs2280712 PARP1 AU NM_001618 exon21 c.30855+78C>T 0.155152 0.3135 Uncertain 1_226589709_C->T 1 226589709 226589709 C T snp 1283.77 1/1 93 46 0 46 1.0 intronic rs2666428 PARP1 AU NM_001618 exon22 c.40754-205C>T 0.541534 0.7946 0.4671 0.8127 Uncertain 1_226589833_T->C 1 226589833 226589833 T C snp 1102.77 0/1 99 96 44 52 0.54 intronic rs1805407 PARP1 AU NM_001618 exon22 c.40754-81T>C 0.26258 0.3125 0.2379 0.3784 0.77 T 0.0 P -0.944 T Uncertain 1_226589958_G->A 1 226589958 226589958 G A snp 396.77 0/1 99 46 30 16 0.35 exonic rs1805404 PARP1 AU synonymous SNV NM_001618 exon2 c.C243T p.D81D 0.218251 0.4365 0.147701 0.2085 0.4375 Uncertain 1_226595647_C->G 1 226595647 226595647 C G snp 3055.77 0/1 99 238 112 126 0.53 UTR5 rs907187 PARP1 AU 0.199081 0.4375 0.119095 0.2035 0.4269 Uncertain 1_226789446_G->A 1 226789446 226789446 G A snp 37.77 0/1 66 4 2 2 0.5 intronic rs731039 C1orf95 AU NM_001003665 exon4 c.53099-258G>A 0.192692 0.2262 Uncertain 1_226835214_A->G 1 226835214 226835214 A G snp 149.77 0/1 99 11 6 5 0.45 intronic rs1144835 ITPKB AU NM_002221 exon5 c.12710+133A>G 0.673922 0.7758 Uncertain 1_226836590_A->G 1 226836590 226836590 A G snp 1432.77 0/1 99 133 69 64 0.48 intronic rs2298169 ITPKB AU NM_002221 exon6 c.14101+118A>G 0.545327 0.7589 Uncertain 1_226895413_C->T 1 226895413 226895413 C T snp 454.77 0/1 99 28 11 17 0.61 intronic rs4653766 ITPKB AU NM_002221 exon7 c.100856-27814C>T 0.0946486 0.0516 Uncertain 1_226923147_T->- 1 226923147 226923147 T - indel 787.73 0/1 99 35 13 22 0.63 intronic rs11337528 ITPKB AU NM_002221 exon7 c.100856-80delT 0.346845 0.3373 Uncertain 1_226923396_G->A 1 226923396 226923396 G A snp 1463.77 0/1 99 129 64 65 0.5 exonic rs56095953 ITPKB AU synonymous SNV NM_002221 exon2 c.C1764T p.S588S 0.0485224 0.0734 0.001000 0.0259 0.0760 Uncertain 1_226923505_G->T 1 226923505 226923505 G T snp 5087.77 1/1 99 192 0 192 1.0 exonic rs708776 ITPKB AU nonsynonymous SNV NM_002221 exon2 c.C1655A p.P552Q 0.979832 1 0.958788 0.9646 0.9999 0.61 T 0.0 P -1.012 T 0.0 T 0.0 T Pathogenic 1_226923938_A->C 1 226923938 226923938 A C snp 1557.77 0/1 99 151 88 63 0.42 exonic rs6667260 ITPKB AU nonsynonymous SNV NM_002221 exon2 c.T1222G p.S408A 0.610423 0.6786 0.514237 0.5305 0.6685 1 T 0.0 P -0.944 T 0.0 T 0.0 T Pathogenic 1_226924196_C->T 1 226924196 226924196 C T snp 2269.77 0/1 99 214 113 101 0.47 exonic rs3754413 ITPKB AU nonsynonymous SNV NM_002221 exon2 c.G964A p.A322T 0.0485224 0.0734 0.001000 0.0260 0.0748 0.47 T 1 N -0.990 T 0.01 T 0.006 T Pathogenic 1_226924940_C->T 1 226924940 226924940 C T snp 963.77 0/1 99 63 22 41 0.65 exonic rs77775944 ITPKB AU nonsynonymous SNV NM_002221 exon2 c.G220A p.G74S 0.0485224 0.0734 0.0404 0.1392 0.55 T 0.650 N -1.001 T 0.093 T 0.022 T Pathogenic 1_226925167_G->A 1 226925167 226925167 G A snp 951.77 0/1 99 109 64 45 0.41 UTR5 rs138545670 ITPKB AU 0.048123 0.0734 0.001069 0.0273 0.0758 Uncertain 1_226925239_G->A 1 226925239 226925239 G A snp 288.77 0/1 99 25 14 11 0.44 UTR5 rs117185933 ITPKB AU 0.029353 0.0198 Uncertain 1_227068243_GACA->- 1 227068243 227068246 GACA - indel 639.74 1/1 30 10 0 10 1.0 intronic rs753561991 PSEN2 AD Uncertain 1_227069677_T->C 1 227069677 227069677 T C snp 5414.77 1/1 99 201 0 201 1.0 exonic rs11405 PSEN2 AD synonymous SNV NM_000447 exon4 c.T69C p.A23A 0.735623 0.5427 0.793095 0.7603 0.5626 Uncertain 1_227069737_C->T 1 227069737 227069737 C T snp 3554.77 1/1 99 125 0 125 1.0 exonic rs6759 PSEN2 AD synonymous SNV NM_000447 exon4 c.C129T p.N43N 0.443291 0.3859 0.489542 0.4995 0.4064 Uncertain 1_227071364_G->A 1 227071364 227071364 G A snp 476.77 1/1 36 13 0 13 1.0 intronic rs1295643 PSEN2 AD NM_000447 exon5 c.1797-41G>A 0.443291 0.3859 0.488462 0.5016 0.4166 Uncertain 1_227071377_T->C 1 227071377 227071377 T C snp 719.77 1/1 54 20 0 20 1.0 intronic rs1295644 PSEN2 AD NM_000447 exon5 c.1797-28T>C 0.624401 0.4911 0.711672 0.7242 0.5277 Uncertain 1_227071525_C->T 1 227071525 227071525 C T snp 2158.77 1/1 99 82 0 82 1.0 exonic rs1046240 PSEN2 AD synonymous SNV NM_000447 exon5 c.C261T p.H87H 0.443291 0.3859 0.490158 0.4991 0.4064 Uncertain 1_227073410_G->C 1 227073410 227073410 G C snp 3183.76 1/1 99 118 0 118 1.0 intronic rs2236910 PSEN2 AD NM_000447 exon6 c.3772+30G>C 0.735623 0.5427 0.792942 0.7605 0.5616 Uncertain 1_227078955_T->C 1 227078955 227078955 T C snp 915.77 1/1 66 31 0 31 1.0 intronic rs2802267 PSEN2 AD NM_000447 exon10 c.9370-23T>C 0.722843 0.5565 0.780101 0.7643 0.5929 Uncertain 1_227079222_C->G 1 227079222 227079222 C G snp 1015.77 1/1 75 36 0 36 1.0 intronic rs2236915 PSEN2 AD NM_000447 exon10 c.9454+160C>G 0.441893 0.3889 Uncertain 1_227081622_A->G 1 227081622 227081622 A G snp 1032.77 1/1 75 36 0 36 1.0 intronic rs10753428 PSEN2 AD NM_000447 exon12 c.12099-85A>G 0.70008 0.4931 Uncertain 1_227081850_G->A 1 227081850 227081850 G A snp 957.77 1/1 69 35 0 35 1.0 intronic rs2855562 PSEN2 AD NM_000447 exon12 c.12218+24G>A 0.574081 0.6052 0.537758 0.5757 0.6536 Uncertain 1_227085155_G->A 1 227085155 227085155 G A snp 922.77 1/1 69 28 0 28 1.0 intergenic rs11802358 PSEN2 AD 0.348842 0.3859 Uncertain 1_227165097_G->A 1 227165097 227165097 G A snp 574.77 0/1 99 42 16 26 0.62 intronic rs3806263 ADCK3 AU NM_020247 exon5 c.16063-52G>A 0.26258 0.2788 0.231970 Uncertain 1_227170768_T->C 1 227170768 227170768 T C snp 259.8 1/1 21 9 0 9 1.0 intronic rs2256060 ADCK3 AU NM_020247 exon8 c.21649+33T>C 0.239417 0.256 0.198959 0.2285 0.3400 Uncertain 1_227171958_G->C 1 227171958 227171958 G C snp 939.77 0/1 99 73 39 34 0.47 intronic rs7530213 ADCK3 AU NM_020247 exon11 c.22850+22G>C 0.168331 0.0962 0.264801 0.2429 0.0963 Uncertain 1_227182033_G->A 1 227182033 227182033 G A snp 1137.77 1/1 81 47 1 46 0.98 exonic rs2802269 CDC42BPA AU nonsynonymous SNV NM_014826 exon35 c.C4853T p.A1618V 0.878195 0.8869 0.903337 0.8883 0.8916 1 T 0.0 P -0.940 T 0.0 T 0.002 T Pathogenic 1_227182575_A->G 1 227182575 227182575 A G snp 3457.77 1/1 99 128 0 128 1.0 exonic rs1045247 CDC42BPA AU synonymous SNV NM_014826 exon34 c.T4734C p.S1578S 0.826877 0.8274 0.855528 0.7983 0.8427 1.000 P -1.050 T Likely benign 1_227192857_T->C 1 227192857 227192857 T C snp 1269.77 0/1 99 101 52 49 0.49 intronic rs548235880 CDC42BPA AU NM_014826 exon3 c.10844+45T>C 0.000199681 0.001 3.334e-05 0.0005 Uncertain 1_227216662_T->C 1 227216662 227216662 T C snp 2803.77 0/1 99 248 140 108 0.44 exonic rs1929861 CDC42BPA AU synonymous SNV NM_014826 exon28 c.A3780G p.K1260K 0.404353 0.4038 0.460634 0.4318 0.4441 1.0 P -0.906 T Likely benign 1_227216775_C->T 1 227216775 227216775 C T snp 2815.77 0/1 99 249 136 113 0.45 exonic rs1929860 CDC42BPA AU nonsynonymous SNV NM_014826 exon28 c.G3667A p.V1223I 0.280152 0.4028 0.282408 0.3177 0.4421 0.99 T 0.000 P -0.927 T 0.001 T 0.004 T Pathogenic 1_227218069_-->AT 1 227218069 227218069 - AT indel 1374.73 1/1 78 26 0 26 1.0 intronic rs5781458 CDC42BPA AU NM_014826 exon9 c.36140-39insAT 0.750799 0.8681 0.831372 0.8303 0.8847 Uncertain 1_227221239_A->T 1 227221239 227221239 A T snp 288.77 0/1 99 35 21 14 0.4 intronic rs41268739 CDC42BPA AU NM_014826 exon11 c.39148+123A>T 0.11242 0.2391 Uncertain 1_227221251_T->C 1 227221251 227221251 T C snp 352.77 0/1 99 27 11 16 0.59 intronic rs12031609 CDC42BPA AU NM_014826 exon11 c.39148+135T>C 0.217452 0.2401 Uncertain 1_227222515_-->ACAA 1 227222515 227222515 - ACAA indel 9316.73 1/1 99 168 0 168 1.0 intronic rs112562427 CDC42BPA AU NM_014826 exon12 c.40527+20insACAA 0.995407 1 0.999281 0.9979 1 Uncertain 1_227222617_T->C 1 227222617 227222617 T C snp 259.77 0/1 99 15 6 9 0.6 intronic rs16846854 CDC42BPA AU NM_014826 exon12 c.40527+122T>C 0.0830671 0.2401 Uncertain 1_227227740_A->C 1 227227740 227227740 A C snp 874.77 0/1 99 53 25 28 0.53 intronic rs12026688 CDC42BPA AU NM_014826 exon14 c.45863-91A>C 0.223842 0.2401 Uncertain 1_227239746_G->T 1 227239746 227239746 G T snp 1346.77 1/1 99 45 0 45 1.0 intronic rs10799381 CDC42BPA AU NM_014826 exon15 c.53743+4035G>T 0.658347 0.7173 Uncertain 1_227261517_T->A 1 227261517 227261517 T A snp 733.77 0/1 99 44 22 22 0.5 intronic rs16846966 CDC42BPA AU NM_014826 exon18 c.79596-47T>A 0.0295527 0.0446 0.001615 0.0164 0.0471 Uncertain 1_227261520_C->T 1 227261520 227261520 C T snp 576.77 0/1 99 46 24 22 0.48 intronic rs16846968 CDC42BPA AU NM_014826 exon18 c.79596-44C>T 0.0970447 0.2391 0.051284 0.0883 0.2644 Uncertain 1_227268488_T->G 1 227268488 227268488 T G snp 1947.77 0/1 99 159 87 72 0.45 intronic rs1929853 CDC42BPA AU NM_014826 exon20 c.86625-105T>G 0.258187 0.247 Uncertain 1_227268836_T->C 1 227268836 227268836 T C snp 44.77 0/1 33 3 1 2 0.67 intronic rs12047828 CDC42BPA AU NM_014826 exon20 c.86750+118T>C 0.228634 0.2599 Uncertain 1_227288655_G->A 1 227288655 227288655 G A snp 557.77 1/1 42 17 0 17 1.0 intronic rs2104863 CDC42BPA AU NM_014826 exon22 c.106724-37G>A 0.834864 0.872 0.826786 0.8345 0.8821 Uncertain 1_227299978_C->T 1 227299978 227299978 C T snp 1750.77 0/1 99 179 110 69 0.39 intronic rs2458521 CDC42BPA AU NM_014826 exon23 c.118044-34C>T 0.257987 0.247 0.290449 0.2624 0.2727 Uncertain 1_227300277_G->A 1 227300277 227300277 G A snp 125.03 1/1 12 5 0 5 1.0 intronic rs488104 CDC42BPA AU NM_003607 exon24 c.118403-94G>A 0.658746 0.7192 Uncertain 1_227330759_A->G 1 227330759 227330759 A G snp 942.77 0/1 99 75 36 39 0.52 intronic rs12139502 CDC42BPA AU NM_014826 exon27 c.148757+34A>G 0.742013 0.753 0.709519 0.7444 0.7340 Uncertain 1_227348349_A->C 1 227348349 227348349 A C snp 684.77 0/1 99 59 29 30 0.51 intronic rs3754419 CDC42BPA AU NM_014826 exon30 c.166369+12A>C 0.0924521 0.0813 0.088846 0.0872 0.0839 Uncertain 1_227381326_C->T 1 227381326 227381326 C T snp 262.77 0/1 99 28 19 9 0.32 intronic rs6696485 CDC42BPA AU NM_014826 exon31 c.199518-160C>T 0.669529 0.6577 Uncertain 1_227381373_G->T 1 227381373 227381373 G T snp 776.77 0/1 99 77 46 31 0.4 intronic rs3768436 CDC42BPA AU NM_014826 exon31 c.199518-113G>T 0.669529 0.6577 Uncertain 1_227381675_A->- 1 227381675 227381675 A - indel 478.73 0/1 99 26 12 14 0.54 intronic rs35780410 CDC42BPA AU NM_014826 exon31 c.199667+40delA 0.221845 0.245 0.207029 0.2049 0.2360 ID=COSN229953;OCCURENCE=1(NS) Uncertain 1_227387361_A->G 1 227387361 227387361 A G snp 554.77 0/1 99 56 29 27 0.48 intronic rs3768434 CDC42BPA AU NM_014826 exon32 c.205385+8A>G 0.799321 0.6577 0.870191 0.8029 0.6154 Uncertain 1_227400792_A->T 1 227400792 227400792 A T snp 90.77 0/1 72 9 3 6 0.67 intronic rs1513612 CDC42BPA AU NM_014826 exon33 c.218868-44A>T 0.327276 0.3423 0.287387 0.3179 0.3907 Uncertain 1_227504794_T->C 1 227504794 227504794 T C snp 2700.77 0/1 99 229 109 120 0.52 exonic rs11804613 CDC42BPA AU synonymous SNV NM_003607 exon1 c.A90G p.T30T 0.271166 0.3363 0.195833 0.2172 0.3837 Uncertain 1_227834229_T->- 1 227834229 227834229 T - indel 3195.79 0/1 99 216 101 115 0.53 intronic rs79145640 ZNF678 AU NM_178549 exon3 c.82849-15delT 0.216054 0.2431 0.2666 0.3939 Uncertain 1_227834234_C->- 1 227834234 227834234 C - indel 3169.73 0/1 99 225 96 129 0.57 intronic rs398074708 ZNF678 AU NM_178549 exon3 c.82849-10delC 0.535343 0.5764 0.5077 0.5955 Uncertain 1_227834400_G->A 1 227834400 227834400 G A snp 2721.77 1/1 99 78 0 78 1.0 intronic rs6426468 ZNF678 AU NM_178549 exon3 c.82976+29G>A 0.772564 0.8214 0.675208 0.6584 0.8130 Uncertain 1_227920061_T->G 1 227920061 227920061 T G snp 979.77 1/1 75 28 0 28 1.0 ncRNA_intronic rs1060295 LOC100130093 AU 0.748802 0.7907 0.682196 0.6346 0.7776 Uncertain 1_227920103_G->A 1 227920103 227920103 G A snp 879.77 0/1 99 57 28 29 0.51 exonic rs3087908 JMJD4 AU nonsynonymous SNV NM_001161465 exon6 c.C1334T p.A445V 0.175919 0.2093 0.175996 0.1737 0.2381 0.6 T 0.0 P -0.915 T 0.032 T 0.003 T Pathogenic 1_227920447_C->T 1 227920447 227920447 C T snp 1130.77 0/1 99 67 28 39 0.58 ncRNA_exonic rs751748 LOC100130093 AU 0.175919 0.2093 Uncertain 1_227922640_T->C 1 227922640 227922640 T C snp 147.77 0/1 99 15 9 6 0.4 intronic rs2273938 JMJD4 AU NM_023007 exon6 c.2620-72T>C 0.157748 0.3482 Uncertain 1_227922918_A->C 1 227922918 227922918 A C snp 2350.77 0/1 99 243 136 107 0.44 exonic rs2295994 JMJD4 AU nonsynonymous SNV NM_001161465 exon1 c.T195G p.D65E 0.415335 0.3671 0.379091 0.4632 0.4551 1 T 0.0 P -0.951 T 0.001 T 0.003 T Pathogenic 1_227923081_G->A 1 227923081 227923081 G A snp 6445.77 1/1 99 250 0 250 1.0 exonic rs7419238 JMJD4 AU nonsynonymous SNV NM_001161465 exon1 c.C32T p.A11V 1 1 0.999917 0.9998 1 1 T 0.0 P -1.008 T 0.0 T 0.0 T Pathogenic 1_227935280_C->T 1 227935280 227935280 C T snp 2033.77 1/1 99 65 0 65 1.0 intronic rs2236361 SNAP47 AU NM_053052 exon2 c.12282-112C>T 0.748003 0.7887 Uncertain 1_227935355_T->C 1 227935355 227935355 T C snp 4632.77 1/1 99 175 0 175 1.0 intronic rs2236360 SNAP47 AU NM_053052 exon2 c.12282-37T>C 0.746206 0.7808 0.679456 0.6345 0.7693 Uncertain 1_227935444_A->G 1 227935444 227935444 A G snp 2781.77 0/1 99 241 120 121 0.5 exonic rs2236359 SNAP47 AU nonsynonymous SNV NM_053052 exon2 c.A142G p.R48G 0.419329 0.3651 0.421882 0.4018 0.3844 0.21 T 0.022 P -0.933 T 0.001 T 0.002 T Pathogenic 1_227935762_G->A 1 227935762 227935762 G A snp 1806.77 0/1 99 142 70 72 0.51 exonic rs2236358 SNAP47 AU nonsynonymous SNV NM_053052 exon2 c.G460A p.V154M 0.147364 0.3462 0.066815 0.1006 0.3255 0.26 T 0.0 P -0.967 T 0.99 D 0.556 D Pathogenic 1_227963491_G->T 1 227963491 227963491 G T snp 469.77 0/1 99 58 36 22 0.38 intronic rs754224 SNAP47 AU NM_053052 exon5 c.45117-4736G>T 0.139976 0.1964 0.1489 0.2284 0.64 T 0.0 P -0.916 T 0.007 T 0.01 T Uncertain 1_227968033_T->C 1 227968033 227968033 T C snp 180.9 1/1 15 5 0 5 1.0 intronic rs9786978 SNAP47 AU NM_053052 exon5 c.45117-194T>C 0.749002 0.7927 Uncertain 1_227968107_G->A 1 227968107 227968107 G A snp 520.77 0/1 99 43 22 21 0.49 intronic rs10799448 SNAP47 AU NM_053052 exon5 c.45117-120G>A 0.465455 0.3452 Uncertain 1_228003649_C->T 1 228003649 228003649 C T snp 585.77 0/1 99 37 15 22 0.59 intronic rs45576341 PRSS38 AU NM_183062 exon1 c.148+84C>T 0.0902556 0.2629 Uncertain 1_228003746_C->T 1 228003746 228003746 C T snp 535.77 0/1 99 39 17 22 0.56 intronic rs59917153 PRSS38 AU NM_183062 exon2 c.373-44C>T 0.0898562 0.2609 0.032921 0.0676 0.2479 Uncertain 1_228003839_C->T 1 228003839 228003839 C T snp 962.77 0/1 99 110 68 42 0.38 exonic rs79840641 PRSS38 AU nonsynonymous SNV NM_183062 exon2 c.C197T p.A66V 0.126398 0.1925 0.106121 0.1375 0.2282 0.04 T 0.0 P -1.079 T 0.892 T 0.189 P Pathogenic 1_228004080_C->T 1 228004080 228004080 C T snp 111.77 0/1 99 10 6 4 0.4 intronic rs72750297 PRSS38 AU NM_183062 exon2 c.536+127C>T 0.0930511 0.2629 Uncertain 1_228033070_C->A 1 228033070 228033070 C A snp 77.77 0/1 99 6 3 3 0.5 intronic rs78839211 PRSS38 AU NM_183062 exon4 c.29753-100C>A 0.128395 0.1964 Uncertain 1_228033197_A->G 1 228033197 228033197 A G snp 1554.77 0/1 99 127 57 70 0.55 exonic rs9426581 PRSS38 AU nonsynonymous SNV NM_183062 exon4 c.A610G p.M204V 0.797324 0.6915 0.837690 0.8277 0.7173 0.91 T 0.0 P -0.975 T 0.0 T 0.0 T Pathogenic 1_228033333_T->A 1 228033333 228033333 T A snp 1898.77 0/1 99 208 119 89 0.43 intronic rs16848162 PRSS38 AU NM_183062 exon4 c.29896+20T>A 0.130591 0.1944 0.108950 0.1407 0.2261 Uncertain 1_228112121_A->G 1 228112121 228112121 A G snp 1127.77 0/1 99 57 17 40 0.7 intronic rs4653889 WNT9A AU NM_003395 exon2 c.2883+20A>G 0.516174 0.3899 0.570198 0.5146 0.4387 Uncertain 1_228113163_A->G 1 228113163 228113163 A G snp 694.77 0/1 99 88 58 30 0.34 exonic rs3795768 WNT9A AU synonymous SNV NM_003395 exon2 c.T153C p.A51A 0.6877 0.6091 0.753507 0.6893 0.6480 Uncertain 1_228129197_T->C 1 228129197 228129197 T C snp 1851.77 1/1 99 69 0 69 1.0 intronic rs631768 WNT9A AU NM_003395 exon4 c.26275-6296T>C 0.558307 0.4504 Uncertain 1_228194775_C->G 1 228194775 228194775 C G snp 1234.77 0/1 99 107 53 54 0.5 UTR5 rs76933265 WNT3A AU 0.0830671 0.1111 Uncertain 1_228210179_A->G 1 228210179 228210179 A G snp 80.77 0/1 69 5 2 3 0.6 intronic rs3094911 WNT3A AU NM_033131 exon2 c.15538-188A>G 0.664137 0.7133 Uncertain 1_228284991_C->T 1 228284991 228284991 C T snp 4796.77 1/1 99 173 0 173 1.0 ncRNA_exonic rs2070960 MIR3620 AU 0.0948482 0.1895 0.077041 0.0874 0.1923 Uncertain 1_228289976_A->G 1 228289976 228289976 A G snp 864.77 0/1 99 103 63 40 0.39 intronic rs2295995 C1orf35 AU NM_024319 exon4 c.1179-34A>G 0.146366 0.1538 0.121583 0.1218 0.1798 Uncertain 1_228327999_C->T 1 228327999 228327999 C T snp 1358.77 0/1 99 123 64 59 0.48 UTR5 rs4653908 GUK1 AU 0.0541134 0.1171 0.031886 0.0567 0.1783 Uncertain 1_228333652_G->A 1 228333652 228333652 G A snp 3771.77 1/1 99 137 0 137 1.0 intronic rs11577976 GUK1 AU NM_001242839 exon3 c.513-74G>A 0.0878594 0.1994 0.055410 Uncertain 1_228335125_C->T 1 228335125 228335125 C T snp 1775.77 1/1 99 67 0 67 1.0 exonic rs1803695 GUK1 AU synonymous SNV NM_001159390 exon5 c.C333T p.A111A 0.086861 0.1984 0.054975 0.0624 0.1978 Uncertain 1_228335959_C->T 1 228335959 228335959 C T snp 286.77 0/1 99 28 16 12 0.43 intronic rs11580599 GUK1 AU NM_001242839 exon7 c.2858-112C>T 0.0529153 0.1121 0.037581 0.0914 0.22 0.01 T 1 N -1.053 T Uncertain 1_228346425_G->C 1 228346425 228346425 G C snp 40.77 0/1 69 9 6 3 0.33 exonic rs4653910 GJC2 AR,AD synonymous SNV NM_020435 exon2 c.G966C p.A322A 0.0876 0.1774 Uncertain 1_228351877_T->A 1 228351877 228351877 T A snp 1236.77 0/1 99 95 44 51 0.54 ncRNA_exonic rs13374714 IBA57-AS1 AU 0.0269569 0.0823 0.0110 0.0878 0 D 1 N -1.064 T Uncertain 1_228352160_T->C 1 228352160 228352160 T C snp 2262.77 1/1 99 80 0 80 1.0 ncRNA_exonic rs4348717 IBA57-AS1 AU 0.963059 1 0.9938 1 Uncertain 1_228353781_C->G 1 228353781 228353781 C G snp 2677.77 0/1 99 219 104 115 0.53 exonic rs13375853 IBA57 AR synonymous SNV NM_001010867 exon1 c.C264G p.A88A 0.0269569 0.0823 0.003843 0.0151 0.1585 Uncertain 1_228362213_C->G 1 228362213 228362213 C G snp 264.8 1/1 21 7 0 7 1.0 intronic rs12141488 IBA57 AR NM_001010867 exon2 c.8875-179C>G 0.93111 0.9841 Uncertain 1_228399482_C->G 1 228399482 228399482 C G snp 568.77 1/1 42 18 0 18 1.0 ncRNA_intronic rs11804508 C1orf145 AU 0.721046 0.8313 0.634161 0.6570 0.8257 Uncertain 1_228399671_G->A 1 228399671 228399671 G A snp 1921.77 0/1 99 144 64 80 0.56 exonic rs117484136 OBSCN AU nonsynonymous SNV NM_052843 exon2 c.G187A p.D63N 0.0245607 0.0645 0.007191 0.0173 0.1101 0.51 T 1 D -1.095 T 0.881 T 0.281 P Pathogenic 1_228399766_T->C 1 228399766 228399766 T C snp 3464.77 1/1 99 134 0 134 1.0 exonic rs55971985 OBSCN AU synonymous SNV NM_052843 exon2 c.T282C p.A94A 0.726238 0.8244 0.640864 0.6937 0.8338 Uncertain 1_228400646_T->C 1 228400646 228400646 T C snp 2383.77 1/1 99 87 0 87 1.0 ncRNA_intronic rs3121192 C1orf145 AU 0.719649 0.8244 0.7079 0.8367 Uncertain 1_228400653_A->T 1 228400653 228400653 A T snp 1925.77 1/1 99 78 0 78 1.0 ncRNA_intronic rs3121191 C1orf145 AU 0.719649 0.8244 0.7135 0.8368 Uncertain 1_228402047_A->G 1 228402047 228402047 A G snp 6761.77 1/1 99 249 0 249 1.0 exonic rs1620111 OBSCN AU synonymous SNV NM_052843 exon4 c.A1431G p.L477L 0.719848 0.8244 0.630541 0.6544 0.8132 Uncertain 1_228402121_A->G 1 228402121 228402121 A G snp 4517.77 1/1 99 156 1 155 0.99 exonic rs1771487 OBSCN AU nonsynonymous SNV NM_052843 exon4 c.A1505G p.Q502R 0.719649 0.8244 0.625665 0.6539 0.8131 0.75 T 1.0 P -1.001 T 0.018 T 0.016 T Pathogenic 1_228402283_C->G 1 228402283 228402283 C G snp 387.77 1/1 30 10 0 10 1.0 intronic rs1771486 OBSCN AU NM_052843 exon4 c.2651+148C>G 0.867412 0.879 Uncertain 1_228404547_G->A 1 228404547 228404547 G A snp 111.77 0/1 99 10 6 4 0.4 intronic rs10157758 OBSCN AU NM_052843 exon7 c.4919+144G>A 0.0245607 0.0675 Uncertain 1_228404668_T->C 1 228404668 228404668 T C snp 796.77 0/1 99 50 20 30 0.6 intronic rs3795777 OBSCN AU NM_052843 exon8 c.5229-45T>C 0.336462 0.3502 0.392163 0.3827 0.3910 Uncertain 1_228405118_-->A 1 228405118 228405118 - A indel 157.77 1/1 21 11 0 11 1.0 intronic rs397726771 OBSCN AU NM_052843 exon8 c.5505+129insA 0.990016 0.998 Uncertain 1_228412106_T->C 1 228412106 228412106 T C snp 541.77 0/1 99 50 27 23 0.46 intronic rs1771482 OBSCN AU NM_052843 exon9 c.12675-53T>C 0.412141 0.3839 Uncertain 1_228412227_T->C 1 228412227 228412227 T C snp 876.77 0/1 99 85 47 38 0.45 exonic rs1771480 OBSCN AU synonymous SNV NM_052843 exon9 c.T2721C p.S907S 0.41254 0.3849 0.4000 0.4163 Uncertain 1_228412308_G->A 1 228412308 228412308 G A snp 1423.77 0/1 99 126 70 56 0.44 exonic rs1757152 OBSCN AU synonymous SNV NM_052843 exon9 c.G2802A p.S934S 0.41254 0.3839 0.447140 0.4010 0.4144 Uncertain 1_228412537_G->A 1 228412537 228412537 G A snp 1424.77 0/1 99 127 68 59 0.46 intronic rs16848404 OBSCN AU NM_052843 exon9 c.12951+102G>A 0.0804712 0.1766 Uncertain 1_228431095_A->G 1 228431095 228431095 A G snp 1164.77 0/1 99 101 50 51 0.5 exonic rs1771455 OBSCN AU synonymous SNV NM_052843 exon10 c.A3141G p.T1047T 0.616613 0.5992 0.700254 0.6499 0.5783 Uncertain 1_228431930_C->T 1 228431930 228431930 C T snp 2028.77 0/1 99 184 93 91 0.49 intronic rs10916293 OBSCN AU NM_052843 exon11 c.32512-66C>T 0.616813 0.5982 Uncertain 1_228432323_T->C 1 228432323 228432323 T C snp 252.77 0/1 99 15 6 9 0.6 intronic rs12077365 OBSCN AU NM_052843 exon11 c.32788+51T>C 0.0832668 0.1964 0.039580 Uncertain 1_228433217_A->G 1 228433217 228433217 A G snp 1872.77 0/1 99 138 61 77 0.56 exonic rs2487384 OBSCN AU synonymous SNV NM_052843 exon12 c.A3585G p.T1195T 0.616613 0.5992 0.698740 0.6502 0.5806 Uncertain 1_228433346_C->T 1 228433346 228433346 C T snp 1223.77 0/1 99 96 49 47 0.49 exonic rs75801409 OBSCN AU synonymous SNV NM_052843 exon12 c.C3714T p.C1238C 0.0587061 0.1964 0.010309 0.0258 0.2169 Uncertain 1_228434395_T->C 1 228434395 228434395 T C snp 3262.77 0/1 99 243 110 133 0.55 exonic rs7517088 OBSCN AU synonymous SNV NM_052843 exon13 c.T3924C p.A1308A 0.617612 0.5992 0.698947 0.6498 0.5791 Uncertain 1_228434467_T->C 1 228434467 228434467 T C snp 2319.77 0/1 99 195 98 97 0.5 exonic rs7517108 OBSCN AU synonymous SNV NM_052843 exon13 c.T3996C p.A1332A 0.66254 0.6151 0.729456 0.6689 0.5954 Uncertain 1_228437603_T->C 1 228437603 228437603 T C snp 852.77 0/1 99 69 36 33 0.48 intronic rs6426494 OBSCN AU NM_052843 exon14 c.38181-62T>C 0.663738 0.6151 Uncertain 1_228437772_G->A 1 228437772 228437772 G A snp 1567.77 0/1 99 152 85 67 0.44 exonic rs12080655 OBSCN AU synonymous SNV NM_052843 exon14 c.G4140A p.E1380E 0.0611022 0.1746 0.019307 0.0256 0.1934 Uncertain 1_228444318_T->G 1 228444318 228444318 T G snp 1449.77 0/1 99 105 47 58 0.55 intronic rs7532144 OBSCN AU NM_052843 exon15 c.44867-33T>G 0.617013 0.5992 0.699210 0.6507 0.5813 Uncertain 1_228444565_T->A 1 228444565 228444565 T A snp 5834.77 1/1 99 218 0 218 1.0 exonic rs7532342 OBSCN AU nonsynonymous SNV NM_052843 exon15 c.T4523A p.V1508D 1 1 1 1 1 T 1.0 P -0.939 T 0.001 T 0.001 T Pathogenic 1_228444741_C->T 1 228444741 228444741 C T snp 193.77 0/1 99 19 12 7 0.37 intronic rs3795780 OBSCN AU NM_052843 exon15 c.45143+114C>T 0.617013 0.5992 Uncertain 1_228451826_C->T 1 228451826 228451826 C T snp 1405.77 0/1 99 125 66 59 0.47 exonic rs453140 OBSCN AU nonsynonymous SNV NM_052843 exon16 c.C4595T p.A1532V 0.30631 0.4226 0.267897 0.2944 0.4042 0.45 T 0.000 P -0.942 T 0.448 T 0.016 P Pathogenic 1_228452032_G->A 1 228452032 228452032 G A snp 1627.77 0/1 99 146 78 68 0.47 exonic rs55706639 OBSCN AU nonsynonymous SNV NM_052843 exon16 c.G4801A p.A1601T 0.0571086 0.1935 0.010806 0.0262 0.2210 0.65 T 1.0 P -0.994 T 0.998 D 0.79 D Pathogenic 1_228456147_T->C 1 228456147 228456147 T C snp 2845.77 0/1 99 249 126 123 0.49 intronic rs878388 OBSCN AU NM_052843 exon17 c.56746-83T>C 0.671126 0.6131 0.7215 0.6607 Uncertain 1_228461129_A->G 1 228461129 228461129 A G snp 1384.77 0/1 99 129 72 57 0.44 intronic rs1188724 OBSCN AU NM_001271223 exon21 c.61764-119A>G 0.69349 0.75 0.735737 0.6908 0.7286 0.4 T 0.0 P -1.004 T Uncertain 1_228461381_T->C 1 228461381 228461381 T C snp 429.77 0/1 99 33 16 17 0.52 intronic rs61825280 OBSCN AU NM_052843 exon18 c.61986-89T>C 0.0990415 0.3313 Uncertain 1_228461408_-->G 1 228461408 228461408 - G indel 1928.73 1/1 99 50 0 50 1.0 intronic rs11398292 OBSCN AU NM_052843 exon18 c.61986-62insG Uncertain 1_228464248_T->G 1 228464248 228464248 T G snp 2324.77 0/1 99 198 103 95 0.48 exonic rs1188721 OBSCN AU nonsynonymous SNV NM_052843 exon22 c.T6318G p.D2106E 0.695487 0.75 0.738366 0.6930 0.7280 1 T 1.0 P -1.037 T 0.001 T 0.001 T Pathogenic 1_228464276_T->C 1 228464276 228464276 T C snp 2686.77 0/1 99 232 118 114 0.49 exonic rs1188722 OBSCN AU nonsynonymous SNV NM_052843 exon22 c.T6346C p.F2116L 0.663538 0.75 0.708851 0.6843 0.7297 1 T 1.0 P -0.984 T 0.001 T 0.001 T Pathogenic 1_228464842_C->G 1 228464842 228464842 C G snp 1972.77 0/1 99 152 72 80 0.53 intronic rs936885 OBSCN AU NM_052843 exon24 c.65376-18C>G 0.69369 0.749 0.738689 0.6935 0.7475 Uncertain 1_228465346_A->G 1 228465346 228465346 A G snp 1546.77 0/1 99 109 46 63 0.58 intronic rs493945 OBSCN AU NM_001271223 exon29 c.65883-21A>G 0.330072 0.378 0.4609 0.5253 Uncertain 1_228465370_T->G 1 228465370 228465370 T G snp 1499.77 0/1 99 96 38 58 0.6 intronic rs867599 OBSCN AU NM_001271223 exon29 c.65883+3T>G 0.669529 0.744 0.7209 0.7850 Uncertain 1_228465403_G->T 1 228465403 228465403 G T snp 1332.77 0/1 99 108 49 59 0.55 intronic rs13376694 OBSCN AU NM_001271223 exon29 c.65883+36G>T 0.102835 0.3413 0.0904 0.4059 Uncertain 1_228467087_C->T 1 228467087 228467087 C T snp 1083.77 0/1 99 87 46 41 0.47 exonic rs12030528 OBSCN AU synonymous SNV NM_052843 exon27 c.C7338T p.T2446T 0.0107827 0.0228 0.000318 0.0098 0.024 Uncertain 1_228467711_G->A 1 228467711 228467711 G A snp 1089.77 0/1 99 147 98 49 0.33 exonic rs3795783 OBSCN AU nonsynonymous SNV NM_052843 exon28 c.G7586A p.R2529Q 0.0836661 0.3056 0.018349 0.0747 0.4141 0.6 T 0.002 P -1.001 T 1.0 D 0.96 D Pathogenic 1_228468244_G->A 1 228468244 228468244 G A snp 2058.77 0/1 99 184 97 87 0.47 exonic rs12061320 OBSCN AU synonymous SNV NM_052843 exon30 c.G7944A p.V2648V 0.113618 0.3185 0.047293 0.0571 0.3421 Uncertain 1_228469870_C->T 1 228469870 228469870 C T snp 1740.77 0/1 99 120 51 69 0.57 exonic rs3795785 OBSCN AU nonsynonymous SNV NM_052843 exon31 c.C8434T p.R2812W 0.0872604 0.2808 0.027311 0.0484 0.2893 0.02 T 0.929 P -1.013 T 0.058 T 0.03 T Pathogenic 1_228469903_A->T 1 228469903 228469903 A T snp 769.77 0/1 99 61 32 29 0.48 exonic rs3795786 OBSCN AU stopgain NM_052843 exon31 c.A8467T p.R2823X 0.0766773 0.2927 0.005209 0.0357 0.3005 0.53 T 1.000 P Pathogenic 1_228469904_G->T 1 228469904 228469904 G T snp 734.77 0/1 99 60 32 28 0.47 exonic rs3795787 OBSCN AU nonsynonymous SNV NM_052843 exon31 c.G8468T p.R2823I 0.0766773 0.2927 0.005293 0.0356 0.2999 0.19 T 1.0 P -1.081 T 0.59 P 0.327 P Pathogenic 1_228476366_G->T 1 228476366 228476366 G T snp 2977.77 0/1 99 248 135 113 0.46 exonic rs3795789 OBSCN AU nonsynonymous SNV NM_052843 exon38 c.G10116T p.E3372D 0.0958466 0.3165 0.024844 0.0514 0.3366 0.25 T 0.054 P -1.071 T 0.65 T 0.677 P Pathogenic 1_228476367_A->T 1 228476367 228476367 A T snp 3032.77 0/1 99 248 134 114 0.46 exonic rs3795790 OBSCN AU nonsynonymous SNV NM_052843 exon38 c.A10117T p.S3373C 0.0958466 0.3165 0.024049 0.0514 0.3372 0.22 T 0.000 P -1.045 T 0.951 T 0.852 D Pathogenic 1_228476414_G->A 1 228476414 228476414 G A snp 3018.77 0/1 99 248 133 115 0.46 exonic rs3795791 OBSCN AU synonymous SNV NM_052843 exon38 c.G10164A p.A3388A 0.0938498 0.3175 0.027782 0.0510 0.3409 Uncertain 1_228480282_A->G 1 228480282 228480282 A G snp 2821.77 0/1 99 249 134 115 0.46 exonic rs1150908 OBSCN AU synonymous SNV NM_052843 exon40 c.A10662G p.T3554T 0.698882 0.749 0.743825 0.6946 0.7309 Uncertain 1_228480964_A->G 1 228480964 228480964 A G snp 644.77 0/1 99 47 20 27 0.57 intronic rs10158357 OBSCN AU NM_052843 exon41 c.81569-89A>G 0.380391 0.503 Uncertain 1_228482285_T->C 1 228482285 228482285 T C snp 464.77 0/1 99 30 16 14 0.47 intronic rs1150909 OBSCN AU NM_052843 exon42 c.82632+169T>C 0.698682 0.749 Uncertain 1_228486504_C->T 1 228486504 228486504 C T snp 670.77 0/1 99 68 39 29 0.43 intronic rs549191808 OBSCN AU NM_001271223 exon49 c.86934+86C>T 0.000599042 0.003 Uncertain 1_228486524_G->A 1 228486524 228486524 G A snp 781.77 0/1 99 54 24 30 0.56 intronic rs61825285 OBSCN AU NM_001271223 exon49 c.86934+106G>A 0.0938498 0.3165 Uncertain 1_228494382_T->C 1 228494382 228494382 T C snp 2741.77 0/1 99 216 107 109 0.5 intronic rs1150911 OBSCN AU NM_052843 exon44 c.94855+43T>C 0.321486 0.497 0.2496 0.5149 Uncertain 1_228494696_G->A 1 228494696 228494696 G A snp 1525.77 0/1 99 110 47 63 0.57 exonic rs4653939 OBSCN AU synonymous SNV NM_052843 exon45 c.G12021A p.A4007A 0.308506 0.497 0.254686 0.3186 0.5720 Uncertain 1_228495664_T->A 1 228495664 228495664 T A snp 118.77 0/1 66 8 3 5 0.63 intronic rs419338 OBSCN AU NM_052843 exon47 c.96327-147T>A 0.698682 0.746 Uncertain 1_228495696_T->C 1 228495696 228495696 T C snp 222.77 0/1 99 19 10 9 0.47 intronic rs419173 OBSCN AU NM_052843 exon47 c.96327-115T>C 0.700479 0.748 Uncertain 1_228496135_G->A 1 228496135 228496135 G A snp 414.77 0/1 99 27 13 14 0.52 intronic rs368559472 OBSCN AU NM_052843 exon47 c.96600+51G>A 0.00139776 0.0069 Uncertain 1_228497053_A->G 1 228497053 228497053 A G snp 2511.77 0/1 99 174 83 91 0.52 intronic rs379620 OBSCN AU NM_052843 exon48 c.97512+57A>G 0.698682 0.746 Uncertain 1_228497286_C->A 1 228497286 228497286 C A snp 2399.77 0/1 99 202 104 98 0.49 intronic rs56852844 OBSCN AU NM_052843 exon49 c.97776+26C>A 0.0932508 0.3145 0.027522 0.0512 0.3417 Uncertain 1_228503677_A->G 1 228503677 228503677 A G snp 1831.77 0/1 99 180 101 79 0.44 exonic rs1150912 OBSCN AU nonsynonymous SNV NM_052843 exon50 c.A13142G p.H4381R 0.700879 0.748 0.749880 0.7014 0.7335 0.51 T 0.0 P -1.035 T 0.0 T 0.001 T Pathogenic 1_228504472_T->C 1 228504472 228504472 T C snp 1189.77 0/1 99 109 61 48 0.44 exonic rs1188732 OBSCN AU nonsynonymous SNV NM_052843 exon51 c.T13348C p.C4450R 0.699281 0.748 0.744069 0.6949 0.7283 0.57 T 0.0 P -1.024 T 0.0 T 0.0 T Pathogenic 1_228504701_-->CTCC 1 228504701 228504701 - CTCC indel 807.73 0/1 99 27 11 16 0.59 intronic rs111792077 OBSCN AU NM_052843 exon51 c.105201+16insCTCC 0.699081 0.748 0.687228 0.6429 0.7209 Uncertain 1_228505204_G->A 1 228505204 228505204 G A snp 1469.77 0/1 99 119 54 65 0.55 exonic rs4653942 OBSCN AU nonsynonymous SNV NM_052843 exon52 c.G13601A p.R4534H 0.315296 0.499 0.254239 0.2619 0.5245 0.12 T 0.0 P -0.932 T 0.994 D 0.706 D Pathogenic 1_228505668_C->G 1 228505668 228505668 C G snp 1622.77 0/1 99 148 78 70 0.47 exonic rs1188729 OBSCN AU nonsynonymous SNV NM_052843 exon53 c.C13925G p.S4642C 0.699281 0.748 0.745307 0.6940 0.7293 0.11 T 0.0 P -0.986 T 0.0 T 0.0 T Pathogenic 1_228505699_T->C 1 228505699 228505699 T C snp 1843.77 0/1 99 167 87 80 0.48 exonic rs1188728 OBSCN AU synonymous SNV NM_052843 exon53 c.T13956C p.G4652G 0.705871 0.748 0.753062 0.6974 0.7299 Uncertain 1_228505727_C->T 1 228505727 228505727 C T snp 1835.77 0/1 99 180 96 84 0.47 exonic rs3795800 OBSCN AU nonsynonymous SNV NM_052843 exon53 c.C13984T p.R4662C 0.086262 0.3165 0.018333 0.0488 0.3413 0.03 T 0.001 P -1.035 T 0.016 T 0.005 T Pathogenic 1_228509427_A->G 1 228509427 228509427 A G snp 2353.77 0/1 99 239 135 104 0.44 exonic rs373610 OBSCN AU nonsynonymous SNV NM_052843 exon55 c.A14885G p.D4962G 0.684704 0.7044 0.739736 0.6862 0.6881 0.42 T 0.000 P -1.006 T 0.0 T 0.0 T Pathogenic 1_228509589_G->A 1 228509589 228509589 G A snp 2323.77 0/1 99 148 60 88 0.59 exonic rs56249237 OBSCN AU nonsynonymous SNV NM_052843 exon55 c.G15047A p.R5016Q 0.0197684 0.0605 0.0098 0.0565 0.55 T 0.791 D -0.870 T 0.999 D 0.928 D Pathogenic 1_228523412_G->A 1 228523412 228523412 G A snp 471.77 0/1 99 43 25 18 0.42 intronic rs12061733 OBSCN AU NM_052843 exon63 c.124007-79G>A 0.126797 0.3155 Uncertain 1_228523442_T->C 1 228523442 228523442 T C snp 597.77 0/1 99 60 33 27 0.45 intronic rs1684868 OBSCN AU NM_052843 exon63 c.124007-49T>C 0.478435 0.5655 0.501223 0.4886 0.5482 Uncertain 1_228523447_T->C 1 228523447 228523447 T C snp 626.77 0/1 99 61 34 27 0.44 intronic rs10799473 OBSCN AU NM_052843 exon63 c.124007-44T>C 0.813498 0.7669 0.871142 0.8090 0.7680 Uncertain 1_228523618_G->A 1 228523618 228523618 G A snp 490.77 0/1 99 42 24 18 0.43 intronic rs1757160 OBSCN AU NM_052843 exon63 c.124068+66G>A 0.474241 0.5655 0.502847 Uncertain 1_228525898_C->G 1 228525898 228525898 C G snp 1011.77 0/1 99 85 40 45 0.53 intronic rs1188717 OBSCN AU NM_052843 exon67 c.126361+53C>G 0.538339 0.5962 Uncertain 1_228526665_T->C 1 228526665 228526665 T C snp 437.77 0/1 99 46 28 18 0.39 exonic rs505629 OBSCN AU synonymous SNV NM_052843 exon69 c.T17196C p.A5732A 0.494409 0.5665 0.555440 0.4897 0.6021 0.543 P -1.075 T Likely benign 1_228528563_C->G 1 228528563 228528563 C G snp 2224.77 0/1 99 168 69 99 0.59 exonic rs1188710 OBSCN AU nonsynonymous SNV NM_052843 exon72 c.C17671G p.Q5891E 0.538738 0.5942 0.548757 0.5468 0.6102 1 T 0.000 P -0.947 T 0.0 T 0.0 T Pathogenic 1_228529129_C->A 1 228529129 228529129 C A snp 726.77 0/1 99 81 54 27 0.33 intronic rs3795810 OBSCN AU NM_052843 exon74 c.129653-8C>A 0.138179 0.3284 0.083743 0.1386 0.3620 Uncertain 1_228538470_C->G 1 228538470 228538470 C G snp 1073.77 0/1 99 65 21 44 0.68 intronic rs12031395 OBSCN AU NM_052843 exon77 c.139057-71C>G 0.147764 0.3433 Uncertain 1_228538968_C->T 1 228538968 228538968 C T snp 43.77 0/1 72 7 4 3 0.43 intronic rs3795811 OBSCN AU NM_052843 exon78 c.139537-53C>T 0.139577 0.3125 Uncertain 1_228539300_G->A 1 228539300 228539300 G A snp 59.74 1/1 6 3 0 3 1.0 intronic rs3795812 OBSCN AU NM_052843 exon78 c.139667+149G>A 0.60024 0.7302 Uncertain 1_228540542_G->A 1 228540542 228540542 G A snp 67.77 0/1 67 5 2 3 0.6 intronic rs6695278 OBSCN AU NM_052843 exon79 c.141167-109G>A 0.461462 0.4028 Uncertain 1_228543800_C->T 1 228543800 228543800 C T snp 597.77 0/1 99 63 36 27 0.43 intronic rs3795814 OBSCN AU NM_052843 exon80 c.144367-51C>T 0.172125 0.3284 0.110819 Uncertain 1_228547256_G->A 1 228547256 228547256 G A snp 542.77 0/1 99 46 19 27 0.59 intronic rs12027720 OBSCN AU NM_052843 exon81 c.147813-41G>A 0.147564 0.3284 0.088112 0.1644 0.4255 Uncertain 1_228547901_C->T 1 228547901 228547901 C T snp 2226.77 0/1 99 168 81 87 0.52 exonic rs12035900 OBSCN AU synonymous SNV NM_052843 exon81 c.C19308T p.D6436D 0.298722 0.2669 0.253477 0.3126 0.2866 Uncertain 1_228548197_G->A 1 228548197 228548197 G A snp 1524.77 0/1 99 138 72 66 0.48 exonic rs10158354 OBSCN AU nonsynonymous SNV NM_052843 exon81 c.G19604A p.R6535H 0.147764 0.3284 0.089851 0.1311 0.3591 0.14 T 0.0 P -0.996 T 0.0 T 0.0 T Pathogenic 1_228550426_C->T 1 228550426 228550426 C T snp 728.77 0/1 99 49 17 32 0.65 intergenic rs35155240 OBSCN AU 0.146965 0.3264 0.086657 0.1695 0.4052 0.4 T 0.0 P -1.002 T 0.002 T 0.003 T Uncertain 1_228552571_T->C 1 228552571 228552571 T C snp 1893.77 0/1 99 146 69 77 0.53 intergenic rs541959 OBSCN AU 0.302117 0.3264 Uncertain 1_228553651_T->C 1 228553651 228553651 T C snp 428.77 0/1 99 33 18 15 0.45 intergenic rs572442 OBSCN AU 0.308107 0.3393 Uncertain 1_228553675_C->T 1 228553675 228553675 C T snp 751.77 0/1 99 54 30 24 0.44 intergenic rs573128 OBSCN AU 0.26897 0.3075 Uncertain 1_228556403_C->T 1 228556403 228556403 C T snp 2265.77 0/1 99 188 89 99 0.53 intergenic rs35711644 OBSCN AU 0.125599 0.3075 0.071533 0.1130 0.3299 Uncertain 1_228556788_C->T 1 228556788 228556788 C T snp 1082.77 0/1 99 86 47 39 0.45 intergenic rs3738685 OBSCN AU 0.320487 0.251 0.312087 0.3818 0.3030 Uncertain 1_228559168_C->T 1 228559168 228559168 C T snp 1069.77 0/1 99 108 59 49 0.45 intergenic rs777257727 OBSCN AU 0 0 0.07 T 1.000 N -0.810 T 1.0 D 0.952 D Uncertain 1_228559994_C->T 1 228559994 228559994 C T snp 2905.77 0/1 99 235 105 130 0.55 intergenic rs500049 OBSCN AU 0.589058 0.5625 0.554960 0.6192 0.6578 1 T 0.981 P -0.948 T 0.004 T 0.003 T Uncertain 1_228560139_A->G 1 228560139 228560139 A G snp 1930.77 1/1 99 59 1 58 0.98 intergenic rs498382 OBSCN AU 0.974241 1 0.944890 0.9502 1 0.948 P -1.022 T Uncertain 1_228560700_T->C 1 228560700 228560700 T C snp 3413.77 1/1 99 125 2 123 0.98 intergenic rs512253 OBSCN AU 0.757987 0.752 0.653542 0.6317 0.7978 0.976 P Uncertain 1_228560990_G->A 1 228560990 228560990 G A snp 50.74 1/1 6 2 0 2 1.0 intergenic rs579897 OBSCN AU 0.759185 0.7579 Uncertain 1_228563653_C->T 1 228563653 228563653 C T snp 1080.77 0/1 99 66 31 35 0.53 intergenic rs560718945 OBSCN AU 0.000199681 0.001 Uncertain 1_228564884_G->A 1 228564884 228564884 G A snp 2870.77 0/1 99 231 112 119 0.52 intergenic rs56174824 OBSCN AU 0.140775 0.3085 0.089045 0.1677 0.4193 0.43 T 1.000 P -1.004 T 0.0 T 0.001 T Uncertain 1_228565445_C->A 1 228565445 228565445 C A snp 295.77 0/1 99 33 19 14 0.42 intergenic rs3738687 OBSCN AU 0.124201 0.3105 0.074850 0.1189 0.3362 Uncertain 1_228588680_A->C 1 228588680 228588680 A C snp 176.77 0/1 99 23 15 8 0.35 exonic rs11555960 TRIM11 AU synonymous SNV NM_145214 exon3 c.T720G p.A240A 0.217252 0.377 0.128658 0.2233 0.4490 Uncertain 1_228601638_T->C 1 228601638 228601638 T C snp 1707.77 0/1 99 189 111 78 0.41 intronic rs472594 TRIM17 AU NM_001134855 exon4 c.4870+45T>C 0.444688 0.4365 0.396663 0.3184 0.4773 Uncertain 1_228602660_G->C 1 228602660 228602660 G C snp 1789.77 0/1 99 209 127 82 0.39 exonic rs503203 TRIM17 AU synonymous SNV NM_016102 exon2 c.C114G p.A38A 0.295927 0.3095 0.244656 0.1655 0.3380 Uncertain 1_228612838_G->T 1 228612838 228612838 G T snp 2269.77 0/1 99 161 77 84 0.52 exonic rs2230656 HIST3H3 AU synonymous SNV NM_003493 exon1 c.C189A p.I63I 0.690296 0.6895 0.726665 0.8208 0.6616 Uncertain 1_228613052_T->C 1 228613052 228613052 T C snp 1703.77 0/1 99 176 108 68 0.39 upstream rs1188474 HIST3H3 AU 0.866214 0.6954 0.904954 0.8752 0.6702 Uncertain 1_228645063_A->G 1 228645063 228645063 A G snp 711.77 0/1 99 50 23 27 0.54 upstream;downstream rs10916317 HIST3H2BB;HIST3H2A UN 0.846845 0.7044 Uncertain 1_228676824_C->T 1 228676824 228676824 C T snp 106.77 0/1 88 7 3 4 0.57 intronic rs12034519 RNF187 AU NM_001010858 exon2 c.1564+71C>T 0.0898562 0.2014 Uncertain 1_228785805_C->T 1 228785805 228785805 C T snp 261.77 0/1 99 20 11 9 0.45 ncRNA_splicing rs10916348 DUSP5P1 AU 0.216254 0.3462 Uncertain 1_228786415_G->A 1 228786415 228786415 G A snp 2017.77 0/1 99 163 77 86 0.53 ncRNA_exonic rs373158106 DUSP5P1 AU 0.0015 0.0004 Uncertain 1_229385407_G->C 1 229385407 229385407 G C snp 1646.77 0/1 99 112 45 67 0.6 intergenic rs9435867 MIR4454 XU 0.115415 0.1845 0.1249 0.1508 Uncertain 1_229407233_G->C 1 229407233 229407233 G C snp 68.77 0/1 97 10 7 3 0.3 intronic rs7519709 RAB4A AU NM_004578 exon1 c.31+116G>C 0.426318 0.4087 Uncertain 1_229422193_T->C 1 229422193 229422193 T C snp 759.77 0/1 99 61 29 32 0.52 intronic rs237764 RAB4A AU NM_004578 exon2 c.15146-39T>C 0.607228 0.494 0.673947 0.6310 0.5259 Uncertain 1_229438828_G->A 1 229438828 229438828 G A snp 399.77 0/1 45 15 2 13 0.87 intronic rs237787 RAB4A AU NM_004578 exon7 c.31650+92G>A 0.605032 0.4921 Uncertain 1_229461024_C->T 1 229461024 229461024 C T snp 1453.77 0/1 99 170 107 63 0.37 exonic rs2282083 CCSAP AU synonymous SNV NM_145257 exon4 c.G771A p.P257P 0.358826 0.3859 0.370060 0.4124 0.3839 Uncertain 1_229568231_T->G 1 229568231 229568231 T G snp 383.77 1/1 30 10 0 10 1.0 intronic rs527621 ACTA1 AR,AD NM_001100 exon4 c.933+53T>G 0.999002 0.999 Uncertain 1_229634866_T->C 1 229634866 229634866 T C snp 1072.77 0/1 99 81 39 42 0.52 intronic rs117446283 NUP133 AU NM_018230 exon22 c.57780-564T>C 0.0319489 0.0982 Uncertain 1_229663065_AGGAA->- 1 229663065 229663069 AGGAA - indel 12830.7 1/1 99 185 0 185 1.0 intronic rs113712941 ABCB10 AU NM_012089 exon5 c.9130+10_9130+14delAGGAA 1 1 0.9992 1 Uncertain 1_229738170_T->G 1 229738170 229738170 T G snp 2849.77 1/1 99 101 0 101 1.0 exonic rs3753886 TAF5L AU synonymous SNV NM_001025247 exon4 c.A744C p.R248R 0.573682 0.7639 0.511533 0.5508 0.7638 Uncertain 1_229738236_G->A 1 229738236 229738236 G A snp 3561.77 1/1 99 130 0 130 1.0 exonic rs4925500 TAF5L AU synonymous SNV NM_001025247 exon4 c.C678T p.P226P 0.842053 0.9415 0.807473 0.7898 0.9495 Uncertain 1_229746019_C->T 1 229746019 229746019 C T snp 2035.77 1/1 99 76 0 76 1.0 intronic rs2273573 TAF5L AU NM_001025247 exon2 c.8022+62C>T 0.574081 0.7639 Uncertain 1_229768297_C->T 1 229768297 229768297 C T snp 513.77 1/1 39 16 0 16 1.0 intronic rs1473719 URB2 AU NM_014777 exon3 c.4812+105C>T 0.571885 0.7639 Uncertain 1_229772693_T->G 1 229772693 229772693 T G snp 4392.77 1/1 99 160 0 160 1.0 exonic rs3811473 URB2 AU nonsynonymous SNV NM_014777 exon4 c.T2333G p.V778G 0.571885 0.7649 0.509995 0.5515 0.7640 0.0 P -1.014 T 0.0 T 0.0 T Pathogenic 1_229772932_A->G 1 229772932 229772932 A G snp 3546.77 1/1 99 111 0 111 1.0 exonic rs3811474 URB2 AU nonsynonymous SNV NM_014777 exon4 c.A2572G p.K858E 0.199281 0.4315 0.107412 0.1354 0.4355 0.0 P -0.913 T 0.055 T 0.032 T Pathogenic 1_229773441_C->T 1 229773441 229773441 C T snp 5191.77 1/1 99 177 0 177 1.0 exonic rs3811475 URB2 AU synonymous SNV NM_014777 exon4 c.C3081T p.T1027T 0.205072 0.4315 0.114332 0.1373 0.4326 Uncertain 1_229781532_T->G 1 229781532 229781532 T G snp 93.28 1/1 9 3 0 3 1.0 intronic rs881694 URB2 AU NM_014777 exon6 c.18225-73T>G 0.571086 0.7639 Uncertain 1_229781744_T->C 1 229781744 229781744 T C snp 3261.77 1/1 99 118 0 118 1.0 intronic rs2274994 URB2 AU NM_014777 exon6 c.18336+28T>C 0.571086 0.7639 0.507919 0.5515 0.7652 Uncertain 1_229783236_T->C 1 229783236 229783236 T C snp 2007.77 1/1 99 74 0 74 1.0 intronic rs6587349 URB2 AU NM_014777 exon7 c.19876-20T>C 0.963458 1 0.908658 0.9137 1 Uncertain 1_229783240_T->C 1 229783240 229783240 T C snp 2193.77 1/1 99 79 0 79 1.0 intronic rs2274995 URB2 AU NM_014777 exon7 c.19876-16T>C 0.561502 0.7639 0.498385 0.5488 0.7641 Uncertain 1_229790048_A->G 1 229790048 229790048 A G snp 4586.77 1/1 99 163 0 163 1.0 exonic rs7521953 URB2 AU synonymous SNV NM_014777 exon9 c.A4290G p.R1430R 0.604034 0.8502 0.519068 0.5635 0.8728 Uncertain 1_229795070_T->G 1 229795070 229795070 T G snp 900.77 1/1 66 37 0 37 1.0 UTR3 rs1048306 URB2 AU 0.602037 0.8343 0.522682 0.5637 0.8567 Uncertain 1_230371883_G->A 1 230371883 230371883 G A snp 1104.77 0/1 99 72 33 39 0.54 intronic rs3811488 GALNT2 AU NM_004481 exon4 c.168831+25G>A 0.68151 0.8978 0.540520 0.5219 0.8919 Uncertain 1_230384970_G->A 1 230384970 230384970 G A snp 708.77 0/1 99 90 56 34 0.38 exonic rs1923950 GALNT2 AU synonymous SNV NM_004481 exon9 c.G858A p.T286T 0.110024 0.0942 0.139013 0.1400 0.1125 Uncertain 1_230386341_T->A 1 230386341 230386341 T A snp 991.77 0/1 99 112 63 49 0.44 intronic rs2273966 GALNT2 AU NM_004481 exon10 c.183279+35T>A 0.283347 0.129 0.345225 0.3119 0.1549 Uncertain 1_230410162_C->T 1 230410162 230410162 C T snp 1098.77 0/1 99 86 43 43 0.5 intronic rs12091838 GALNT2 AU NM_004481 exon15 c.207163-28C>T 0.134185 0.0397 0.174150 0.1292 0.0564 Uncertain 1_230415025_A->G 1 230415025 230415025 A G snp 3961.77 1/1 99 148 0 148 1.0 intronic rs6698963 GALNT2 AU NM_004481 exon16 c.212021-23A>G 0.722843 0.9474 0.593279 0.5619 0.9447 Uncertain 1_230451849_T->C 1 230451849 230451849 T C snp 86.77 0/1 30 4 1 3 0.75 intergenic rs147121532 GALNT2 AU 0.0253594 0.0645 Uncertain 1_230451935_-->AT 1 230451935 230451935 - AT indel 1178.73 1/1 72 24 0 24 1.0 intergenic rs144363709 GALNT2 AU Uncertain 1_230451956_AC->- 1 230451956 230451957 AC - indel 660.73 0/1 99 31 15 16 0.52 intergenic rs368989586 GALNT2 AU Uncertain 1_230451975_TACG->- 1 230451975 230451978 TACG - indel 1044.73 0/1 99 33 16 17 0.52 intergenic rs142925572 GALNT2 AU Uncertain 1_230452088_C->T 1 230452088 230452088 C T snp 358.77 0/1 93 19 5 14 0.74 intergenic rs118047928 GALNT2 AU 0.0209665 0.0476 Uncertain 1_230452146_C->T 1 230452146 230452146 C T snp 43.77 0/1 72 4 2 2 0.5 intergenic rs78123681 GALNT2 AU 0.0215655 0.0496 Uncertain 1_230452151_G->A 1 230452151 230452151 G A snp 43.77 0/1 70 4 2 2 0.5 intergenic rs115670380 GALNT2 AU 0.0209665 0.0476 Uncertain 1_230459434_C->- 1 230459434 230459434 C - indel 1019.73 1/1 90 35 0 35 1.0 intronic rs35048134 PGBD5 AU NM_001258311 exon1 c.196+68delC Uncertain 1_230459495_A->G 1 230459495 230459495 A G snp 104.77 0/1 99 9 5 4 0.44 intronic rs78092885 PGBD5 AU NM_001258311 exon1 c.196+129A>G 0.0121805 0.0476 Uncertain 1_230461229_C->G 1 230461229 230461229 C G snp 1194.77 0/1 99 97 52 45 0.46 intronic rs75081927 PGBD5 AU NM_001258311 exon2 c.1991+68C>G 0.0119808 0.0466 Uncertain 1_230461291_A->- 1 230461291 230461291 A - indel 776.73 0/1 99 54 31 23 0.43 intronic rs200504937 PGBD5 AU NM_001258311 exon2 c.1991+130delA Uncertain 1_230461366_T->C 1 230461366 230461366 T C snp 274.77 0/1 54 10 2 8 0.8 intronic rs76543027 PGBD5 AU NM_001258311 exon2 c.1991+205T>C 0.0119808 0.0466 Uncertain 1_230473103_A->C 1 230473103 230473103 A C snp 2832.77 1/1 99 87 0 87 1.0 intronic rs10864744 PGBD5 AU NM_001258311 exon4 c.13864+69A>C 0.371605 0.4177 Uncertain 1_230778244_C->- 1 230778244 230778244 C - indel 758.73 0/1 99 65 37 28 0.43 UTR5 rs11361885 COG2 AU Uncertain 1_230778491_G->C 1 230778491 230778491 G C snp 1708.77 0/1 99 141 71 70 0.5 intronic rs4846864 COG2 AU NM_001145036 exon1 c.72+67G>C 0.820487 0.9504 Uncertain 1_230795177_T->C 1 230795177 230795177 T C snp 1397.77 0/1 99 97 40 57 0.59 intronic rs1359866 COG2 AU NM_001145036 exon2 c.16857-32T>C 0.755791 0.8998 0.654575 0.6775 0.9178 Uncertain 1_230796375_A->C 1 230796375 230796375 A C snp 593.77 0/1 99 43 24 19 0.44 intronic rs3736982 COG2 AU NM_001145036 exon3 c.18151-128A>C 0.323283 0.4365 Uncertain 1_230819296_TTC->- 1 230819296 230819298 TTC - indel 3523.73 0/1 99 123 50 73 0.59 intronic rs5781596 COG2 AU NM_001145036 exon11 c.40967-23_40967-21delTTC 0.351038 0.5982 0.220732 0.2924 0.5858 Uncertain 1_230819479_-->T 1 230819479 230819479 - T indel 315.77 1/1 21 33 1 32 0.97 intronic rs397727454 COG2 AU NM_001145036 exon11 c.41029+98insT 0.613818 0.6429 Uncertain 1_230820763_-->ACATT 1 230820763 230820763 - ACATT indel 1512.73 0/1 99 44 22 22 0.5 intronic rs150768186 COG2 AU NM_001145036 exon12 c.42478-67insACATT 0.233027 0.1012 Uncertain 1_230822607_G->A 1 230822607 230822607 G A snp 811.77 0/1 99 62 32 30 0.48 intronic rs1536591 COG2 AU NM_001145036 exon13 c.44328-73G>A 0.597444 0.3879 Uncertain 1_230825942_A->G 1 230825942 230825942 A G snp 821.77 0/1 99 65 32 33 0.51 intronic rs3000064 COG2 AU NM_001145036 exon16 c.47547+43A>G 0.226238 0.1012 0.334820 0.3510 0.1146 Uncertain 1_230828873_A->G 1 230828873 230828873 A G snp 74.77 0/1 99 8 5 3 0.38 intronic rs3789662 COG2 AU NM_001145036 exon18 c.50685-164A>G 0.344449 0.5913 Uncertain 1_230828987_C->A 1 230828987 230828987 C A snp 1508.77 0/1 99 129 62 67 0.52 intronic rs2478534 COG2 AU NM_001145036 exon18 c.50685-50C>A 0.225639 0.1012 0.326772 0.3485 0.1159 Uncertain 1_230829139_A->G 1 230829139 230829139 A G snp 1495.77 0/1 99 123 59 64 0.52 exonic rs1051038 COG2 AU synonymous SNV NM_007357 exon18 c.A2217G p.X739X 0.344649 0.5913 0.213594 0.2897 0.5872 Uncertain 1_230840096_T->C 1 230840096 230840096 T C snp 682.77 0/1 99 66 37 29 0.44 intronic rs1926723 AGT AR,AO,AU NM_000029 exon2 c.1197+13T>C 0.133187 0.3472 0.066969 0.1107 0.3403 Uncertain 1_230840197_C->A 1 230840197 230840197 C A snp 80.77 0/1 69 5 2 3 0.6 intronic rs1926722 AGT AR,AO,AU NM_000029 exon2 c.1197+114C>A 0.131589 0.3413 Uncertain 1_230841687_T->C 1 230841687 230841687 T C snp 4918.77 1/1 99 177 0 177 1.0 exonic rs7080 AGT AR,AO,AU synonymous SNV NM_000029 exon3 c.A1116G p.L372L 0.972644 1 0.940873 0.9441 1 Uncertain 1_230845794_A->G 1 230845794 230845794 A G snp 2926.77 0/1 99 249 139 110 0.44 exonic rs699 AGT AR,AO,AU nonsynonymous SNV NM_000029 exon2 c.T803C p.M268T 0.705072 0.8532 0.561664 0.5484 0.8378 0.68 T 0.0 P -0.991 T 0.0 T 0.0 T CLINSIG=other|other|other;CLNDBN=Hypertension\x2c_essential\x2c_susceptibility_to|Preeclampsia\x2c_susceptibility_to|Susceptibility_to_progression_to_renal_failure_in_IgA_nephropathy;CLNREVSTAT=no_assertion_criteria_provided|no_assertion_criteria_provided|no_assertion_criteria_provided;CLNACC=RCV000019691.2|RCV000019692.2|RCV000019693.2;CLNDSDB=.|.|MedGen;CLNDSDBID=.|.|C1862886 ID=CM920010;DIS=Hypertension, association with;TAG=DP;PUB=1394429 DP Pathogenic 1_230846679_T->C 1 230846679 230846679 T C snp 140.77 0/1 99 19 12 7 0.37 intronic rs11122576 AGT AR,AO,AU NM_000029 exon4 c.7713+80T>C 0.137181 0.3492 Uncertain 1_230883569_G->T 1 230883569 230883569 G T snp 1138.77 1/1 84 31 0 31 1.0 intronic rs28359584 CAPN9 AU NM_006615 exon1 c.213+114G>T 0.108826 0.3423 Uncertain 1_230898494_C->T 1 230898494 230898494 C T snp 1943.77 0/1 99 178 90 88 0.49 exonic rs2282319 CAPN9 AU synonymous SNV NM_006615 exon4 c.C498T p.N166N 0.332867 0.4385 0.337306 0.3475 0.4435 Uncertain 1_230903233_C->T 1 230903233 230903233 C T snp 145.77 0/1 99 9 3 6 0.67 intronic rs11579577 CAPN9 AU NM_006615 exon5 c.20044-53C>T 0.0898562 0.2361 Uncertain 1_230903234_A->G 1 230903234 230903234 A G snp 111.77 0/1 97 9 3 6 0.67 intronic rs11122590 CAPN9 AU NM_006615 exon5 c.20044-52A>G 0.555112 0.5506 Uncertain 1_230975454_A->G 1 230975454 230975454 A G snp 336.78 1/1 27 9 0 9 1.0 UTR3 rs1202550 C1orf198 AU 0.75639 0.9325 Uncertain 1_230979657_G->A 1 230979657 230979657 G A snp 310.77 0/1 99 31 19 12 0.39 intronic rs41314280 C1orf198 AU NM_001136495 exon2 c.4045+15G>A 0.185703 0.4067 0.134112 0.1980 0.3940 Uncertain 1_231003851_G->C 1 231003851 231003851 G C snp 40.77 0/1 69 6 4 2 0.33 intronic rs11122619 C1orf198 AU NM_001136494 exon4 c.28328-74G>C 0.201877 0.4613 Uncertain 1_231042732_T->A 1 231042732 231042732 T A snp 1144.77 0/1 99 106 50 56 0.53 exonic rs3811502 TTC13 AU synonymous SNV NM_001122835 exon21 c.A2340T p.V780V 0.515575 0.5446 0.482008 0.5364 0.5319 Uncertain 1_231047311_AC->- 1 231047311 231047312 AC - indel 497.73 0/1 99 27 15 12 0.44 intronic rs10568287 TTC13 AU NM_001122835 exon4 c.4645+16_4645+17delAC 0.657279 0.6697 0.5717 Uncertain 1_231047392_G->A 1 231047392 231047392 G A snp 63.77 0/1 92 6 3 3 0.5 intronic rs2153049 TTC13 AU NM_001122835 exon4 c.4645+97G>A 0.637979 0.5794 Uncertain 1_231052183_G->T 1 231052183 231052183 G T snp 52.74 1/1 6 2 0 2 1.0 intronic rs7537655 TTC13 AU NM_024525 exon6 c.9398+135G>T 0.665535 0.5903 Uncertain 1_231057310_C->T 1 231057310 231057310 C T snp 225.84 1/1 18 7 0 7 1.0 intronic rs2275334 TTC13 AU NM_001122835 exon8 c.14600+60C>T 0.664537 0.5903 Uncertain 1_231059784_C->T 1 231059784 231059784 C T snp 805.77 1/1 60 20 0 20 1.0 intronic rs3748774 TTC13 AU NM_001122835 exon9 c.17029+105C>T 0.664936 0.5923 Uncertain 1_231060736_T->C 1 231060736 231060736 T C snp 2402.77 1/1 99 88 0 88 1.0 intronic rs3748775 TTC13 AU NM_001122835 exon10 c.18069+17T>C 0.485224 0.5565 0.445410 0.5107 0.5356 Uncertain 1_231064546_T->C 1 231064546 231064546 T C snp 99.28 1/1 9 3 0 3 1.0 intronic rs1343674 TTC13 AU NM_001122835 exon12 c.22032-136T>C 0.907348 0.9782 Uncertain 1_231064578_-->CTC 1 231064578 231064578 - CTC indel 812.73 1/1 42 14 0 14 1.0 intronic rs5781609 TTC13 AU NM_001122835 exon12 c.22032-104insCTC 0.664137 0.5903 Uncertain 1_231064611_G->A 1 231064611 231064611 G A snp 1396.77 1/1 99 43 0 43 1.0 intronic rs950029 TTC13 AU NM_001122835 exon12 c.22032-71G>A 0.484625 0.5556 Uncertain 1_231067236_C->T 1 231067236 231067236 C T snp 3024.77 1/1 99 112 0 112 1.0 intronic rs11122624 TTC13 AU NM_001122835 exon13 c.24568+18C>T 0.485024 0.5565 0.444564 0.5109 0.5333 Uncertain 1_231067318_G->T 1 231067318 231067318 G T snp 1313.77 1/1 96 40 0 40 1.0 intronic rs11122625 TTC13 AU NM_001122835 exon13 c.24568+100G>T 0.484425 0.5565 Uncertain 1_231069652_A->C 1 231069652 231069652 A C snp 916.77 1/1 69 28 0 28 1.0 intronic rs1890351 TTC13 AU NM_001122835 exon15 c.26957+45A>C 0.664736 0.5913 0.681671 0.6788 0.5760 Uncertain 1_231079381_A->G 1 231079381 231079381 A G snp 56.74 1/1 6 2 0 2 1.0 intronic rs6541239 TTC13 AU NM_024525 exon18 c.36901-170A>G 0.879593 0.9782 Uncertain 1_231081269_-->A 1 231081269 231081269 - A indel 528.73 0/1 99 37 16 21 0.57 intronic rs141457550 TTC13 AU NM_024525 exon19 c.38550+69insA 0.0936502 0.129 0.054304 Uncertain 1_231081304_T->G 1 231081304 231081304 T G snp 761.77 1/1 57 21 0 21 1.0 intronic rs6673085 TTC13 AU NM_024525 exon19 c.38550+104T>G 0.553914 0.5556 Uncertain 1_231093786_T->- 1 231093786 231093786 T - indel 665.73 0/1 99 42 15 27 0.64 intronic rs397983175 TTC13 AU NM_001122835 exon19 c.51319-183delT 0.730032 0.6458 Uncertain 1_231114595_C->T 1 231114595 231114595 C T snp 54.77 0/1 83 7 4 3 0.43 UTR5 rs11122174 TTC13 AU 0.511182 0.6458 0.6487 0.6939 Uncertain 1_231124055_T->C 1 231124055 231124055 T C snp 983.77 0/1 99 74 29 45 0.61 intronic rs10779804 ARV1 AR NM_022786 exon2 c.9214-10T>C 0.384784 0.5129 0.338106 0.3587 0.5387 Uncertain 1_231156029_A->G 1 231156029 231156029 A G snp 75.77 0/1 99 7 3 4 0.57 intronic rs10864654 FAM89A AU NM_198552 exon1 c.264+157A>G 0.325479 0.3621 Uncertain 1_231161773_C->T 1 231161773 231161773 C T snp 369.77 0/1 99 32 16 16 0.5 intronic rs12569337 FAM89A AU NM_198552 exon1 c.264+5901C>T 0.159744 0.119 Uncertain 1_231162072_C->T 1 231162072 231162072 C T snp 80.77 0/1 99 6 3 3 0.5 intronic rs4133249 FAM89A AU NM_198552 exon1 c.264+6200C>T 0.610024 0.4901 Uncertain 1_231298699_T->G 1 231298699 231298699 T G snp 4340.77 1/1 99 153 0 153 1.0 UTR5 rs112692510 TRIM67 AU 0.152356 0.2569 0.097286 0.1262 0.3226 Uncertain 1_231298898_C->A 1 231298898 231298898 C A snp 1782.77 0/1 99 138 63 75 0.54 exonic rs61750990 TRIM67 AU synonymous SNV NM_001004342 exon1 c.C183A p.A61A 0.0860623 0.2282 0.0764 0.2664 Uncertain 1_231337214_G->A 1 231337214 231337214 G A snp 1411.77 0/1 99 116 52 64 0.55 exonic rs748012084 TRIM67 AU synonymous SNV NM_001004342 exon5 c.G1485A p.P495P 8.691e-06 0 Uncertain 1_231353589_A->G 1 231353589 231353589 A G snp 558.77 0/1 99 57 32 25 0.44 UTR3 rs4658907 TRIM67 AU 0.264776 0.3532 0.3038 0.3947 0.188 P Uncertain 1_231360962_T->C 1 231360962 231360962 T C snp 83.77 0/1 30 4 1 3 0.75 intronic rs515826 C1orf131 AU NM_152379 exon2 c.1192-254T>C 0.324281 0.3522 Uncertain 1_231362923_G->A 1 231362923 231362923 G A snp 889.77 0/1 99 77 38 39 0.51 intronic rs491182 C1orf131 AU NM_152379 exon4 c.2790+109G>A 0.32488 0.3502 Uncertain 1_231377081_C->T 1 231377081 231377081 C T snp 1499.77 0/1 99 121 57 64 0.53 UTR5 rs518686 GNPAT AR 0.581869 0.63 0.550900 0.5490 0.5936 Uncertain 1_231401204_T->C 1 231401204 231401204 T C snp 857.77 0/1 99 82 48 34 0.41 intronic rs6702011 GNPAT AR NM_014236 exon5 c.24042+38T>C 0.267772 0.2411 0.270183 0.2712 0.2144 Uncertain 1_231401596_T->C 1 231401596 231401596 T C snp 1140.77 0/1 99 133 86 47 0.35 intronic rs532226 GNPAT AR NM_014236 exon6 c.24409+63T>C 0.57528 0.63 0.545554 Uncertain 1_231401902_G->A 1 231401902 231401902 G A snp 2035.77 0/1 99 150 69 81 0.54 exonic rs574553 GNPAT AR synonymous SNV NM_014236 exon7 c.G915A p.E305E 0.628594 0.6339 0.594802 0.5676 0.5969 Uncertain 1_231403830_C->T 1 231403830 231403830 C T snp 38.77 0/1 67 5 3 2 0.4 intronic rs579924 GNPAT AR NM_014236 exon9 c.26525+181C>T 0.576278 0.63 Uncertain 1_231471269_T->- 1 231471269 231471269 T - indel 432.73 0/1 99 22 9 13 0.59 UTR3 rs35468792 EXOC8 AU 0.268371 0.2877 0.234213 0.2331 0.2452 Uncertain 1_231480507_A->G 1 231480507 231480507 A G snp 162.77 0/1 99 22 11 11 0.5 intronic rs1009227 SPRTN AR NM_001010984 exon3 c.9413-3035A>G 0.520168 0.5308 0.6169 0.5597 Uncertain 1_231486989_A->C 1 231486989 231486989 A C snp 245.77 0/1 99 17 8 9 0.53 intronic rs2474633 SPRTN AR NM_001010984 exon4 c.12920-60A>C 0.562101 0.5308 Uncertain 1_231487017_T->C 1 231487017 231487017 T C snp 409.77 0/1 99 27 13 14 0.52 intronic rs2474634 SPRTN AR NM_001010984 exon4 c.12920-32T>C 0.53135 0.5308 0.577361 0.6108 0.5801 Uncertain 1_231488524_C->T 1 231488524 231488524 C T snp 1751.77 0/1 99 151 87 64 0.42 exonic rs2437150 SPRTN AR nonsynonymous SNV NM_032018 exon5 c.C887T p.P296L 0.532947 0.5248 0.579271 0.5988 0.5722 1 T 0.0 P -0.903 T 0.0 T 0.0 T Pathogenic 1_231502310_T->C 1 231502310 231502310 T C snp 377.77 0/1 99 30 13 17 0.57 intronic rs1435166 EGLN1 AD NM_022051 exon1 c.65+89T>C 0.471246 0.5278 Uncertain 1_231506557_G->A 1 231506557 231506557 G A snp 357.77 0/1 99 31 16 15 0.48 intronic rs2256908 EGLN1 AD NM_022051 exon3 c.4288+113G>A 0.492812 0.5327 Uncertain 1_231557255_C->G 1 231557255 231557255 C G snp 1666.77 1/1 99 62 0 62 1.0 exonic rs12097901 EGLN1 AD nonsynonymous SNV NM_022051 exon1 c.G380C p.C127S 0.260383 0.4593 0.2963 0.6429 0.73 T 0.0 P -1.059 T 0.0 T 0.0 T ID=CM140742;DIS=Reduced haemoglobin levels;TAG=DFP;PUB=24711448 DFP Pathogenic 1_231557276_G->A 1 231557276 231557276 G A snp 642.77 0/1 99 48 19 29 0.6 exonic EGLN1 AD nonsynonymous SNV NM_022051 exon1 c.C359T p.P120L 0.67 T 0.997 N -0.685 T 0.028 T 0.007 T ID=COSM1185785;OCCURENCE=1(lung) Pathogenic 1_231664753_T->A 1 231664753 231664753 T A snp 643.77 1/1 48 17 0 17 1.0 ncRNA_intronic rs1621135 TSNAX-DISC1 AU 0.290935 0.5159 Uncertain 1_231762607_G->A 1 231762607 231762607 G A snp 344.77 0/1 99 24 10 14 0.58 ncRNA_intronic rs3738399 TSNAX-DISC1 AU 0.0758786 0.2232 0.1239 0.3148 Uncertain 1_231830295_G->A 1 231830295 231830295 G A snp 2630.77 0/1 99 213 108 105 0.49 exonic rs3738401 DISC1 AU,AD nonsynonymous SNV NM_018662 exon2 c.G791A p.R264Q 0.232228 0.2173 0.260034 0.2923 0.2432 0.34 T 0.0 P -0.991 T 0.181 T 0.007 T CLINSIG=untested;CLNDBN=not_provided;CLNREVSTAT=no_assertion_provided;CLNACC=RCV000084637.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 ID=CM1111296;DIS=Schizophrenia, ultra-resistant, association with;TAG=DP;PUB=20531374 DP Pathogenic 1_231903010_C->T 1 231903010 231903010 C T snp 626.77 0/1 99 55 30 25 0.45 exonic rs3738402 DISC1 AU,AD synonymous SNV NM_018662 exon5 c.C1393T p.L465L 0.0990415 0.2044 0.035599 0.0703 0.2093 Uncertain 1_231906589_C->T 1 231906589 231906589 C T snp 1670.77 0/1 99 166 95 71 0.43 exonic rs2492367 DISC1 AU,AD synonymous SNV NM_018662 exon6 c.C1407T p.I469I 0.142173 0.1409 0.144933 0.1265 0.1490 Uncertain 1_231906847_C->T 1 231906847 231906847 C T snp 1261.77 0/1 99 99 49 50 0.51 ncRNA_intronic rs16854940 TSNAX-DISC1 AU 0.0984425 0.2014 0.034475 0.0906 0.3096 Uncertain 1_231931048_T->C 1 231931048 231931048 T C snp 770.77 0/1 99 62 32 30 0.48 splicing rs2273890 DISC1 AU,AD NM_001164537 exon8 c.168429+6T>C 0.104433 0.124 0.127403 0.1180 0.1186 Pathogenic 1_231935699_T->C 1 231935699 231935699 T C snp 116.77 0/1 62 6 2 4 0.67 ncRNA_intronic rs4658884 TSNAX-DISC1 AU 0.695487 0.5962 Uncertain 1_231936016_A->G 1 231936016 231936016 A G snp 3948.77 1/1 99 145 0 145 1.0 ncRNA_intronic rs2759354 TSNAX-DISC1 AU 0.988419 1 Uncertain 1_231954427_C->T 1 231954427 231954427 C T snp 636.77 1/1 48 16 0 16 1.0 ncRNA_exonic rs1535530 TSNAX-DISC1 AU 0.682109 0.7927 Uncertain 1_231957336_C->T 1 231957336 231957336 C T snp 618.77 1/1 45 25 0 25 1.0 ncRNA_intronic rs16855093 TSNAX-DISC1 AU 0.138379 0.373 Uncertain 1_232002392_A->G 1 232002392 232002392 A G snp 1552.77 1/1 99 60 0 60 1.0 ncRNA_intronic rs3082 TSNAX-DISC1 AU 0.344649 0.4226 0.312089 Uncertain 1_232534957_T->C 1 232534957 232534957 T C snp 2807.77 1/1 99 107 0 107 1.0 exonic rs12043251 SIPA1L2 AU synonymous SNV NM_020808 exon21 c.A5085G p.R1695R 0.401558 0.7371 0.253229 0.3342 0.7388 Uncertain 1_232535030_C->T 1 232535030 232535030 C T snp 2848.77 1/1 99 112 0 112 1.0 intronic rs629939 SIPA1L2 AU NM_020808 exon1 c.147+11C>T 0.997604 1 0.995661 0.9956 1 Uncertain 1_232539219_C->T 1 232539219 232539219 C T snp 4308.77 1/1 99 156 0 156 1.0 exonic rs2275303 SIPA1L2 AU nonsynonymous SNV NM_020808 exon19 c.G4915A p.G1639S 0.123203 0.4593 0.005691 0.0648 0.4877 0.28 T 0.676 P -0.914 T 0.09 T 0.089 T Pathogenic 1_232539412_T->C 1 232539412 232539412 T C snp 2178.77 1/1 99 72 0 72 1.0 intronic rs2275304 SIPA1L2 AU NM_020808 exon3 c.4445+95T>C 0.136182 0.4593 Uncertain 1_232539811_T->A 1 232539811 232539811 T A snp 1291.77 1/1 93 47 0 47 1.0 intronic rs2275306 SIPA1L2 AU NM_020808 exon4 c.4998-59T>A 0.135982 0.4593 0.042488 Uncertain 1_232551416_G->A 1 232551416 232551416 G A snp 2135.77 1/1 99 79 0 79 1.0 intronic rs12569188 SIPA1L2 AU NM_020808 exon5 c.16499+45G>A 0.315096 0.4306 0.315917 0.3601 0.4428 Uncertain 1_232567946_C->T 1 232567946 232567946 C T snp 220.84 1/1 18 6 0 6 1.0 intronic rs3765572 SIPA1L2 AU NM_020808 exon8 c.33120-46C>T 0.114018 0.379 0.009992 0.0693 0.4158 Uncertain 1_232568233_G->T 1 232568233 232568233 G T snp 1504.77 0/1 99 136 74 62 0.46 intronic SIPA1L2 AU NM_020808 exon8 c.33345+16G>T Uncertain 1_232568293_A->G 1 232568293 232568293 A G snp 1819.77 1/1 99 62 0 62 1.0 intronic rs1547741 SIPA1L2 AU NM_020808 exon8 c.33345+76A>G 0.977835 1 Uncertain 1_232574921_T->C 1 232574921 232574921 T C snp 4271.77 1/1 99 150 0 150 1.0 exonic rs2275307 SIPA1L2 AU nonsynonymous SNV NM_020808 exon13 c.A3964G p.T1322A 0.352236 0.4643 0.271991 0.2822 0.4779 1 T 0.0 P -1.038 T 0.0 T 0.0 T Pathogenic 1_232576998_T->A 1 232576998 232576998 T A snp 2699.77 1/1 99 101 0 101 1.0 intronic rs12036020 SIPA1L2 AU NM_020808 exon10 c.42164-38T>A 0.248802 0.5377 0.072115 0.1467 0.5624 Uncertain 1_232579597_T->A 1 232579597 232579597 T A snp 262.8 1/1 21 10 0 10 1.0 intronic rs4649372 SIPA1L2 AU NM_020808 exon12 c.44559+166T>A 0.386182 0.5387 Uncertain 1_232581247_C->G 1 232581247 232581247 C G snp 250.77 0/1 99 28 16 12 0.43 intronic rs1409369 SIPA1L2 AU NM_020808 exon13 c.46402-27C>G 0.385583 0.5347 0.278004 0.3175 0.5595 Uncertain 1_232601208_A->G 1 232601208 232601208 A G snp 1891.77 1/1 99 61 0 61 1.0 intronic rs7536385 SIPA1L2 AU NM_020808 exon15 c.66290+46A>G 0.287939 0.6974 0.072610 0.1580 0.7176 Uncertain 1_232601242_AC->- 1 232601242 232601243 AC - indel 260.73 0/1 99 27 10 17 0.63 intronic rs144055946 SIPA1L2 AU NM_020808 exon15 c.66290+80_66290+81delAC Uncertain 1_232607050_T->A 1 232607050 232607050 T A snp 172.77 0/1 99 22 14 8 0.36 intronic rs12116796 SIPA1L2 AU NM_020808 exon16 c.72244-66T>A 0.239816 0.1647 Uncertain 1_232607065_G->A 1 232607065 232607065 G A snp 490.77 0/1 99 28 12 16 0.57 intronic rs16857291 SIPA1L2 AU NM_020808 exon16 c.72244-51G>A 0.141773 0.5506 0.005581 Uncertain 1_232607094_T->C 1 232607094 232607094 T C snp 505.77 0/1 99 43 24 19 0.44 intronic rs12116822 SIPA1L2 AU NM_020808 exon16 c.72244-22T>C 0.252196 0.1647 0.241456 0.2558 0.1716 Uncertain 1_232629171_A->- 1 232629171 232629171 A - indel 1217.73 0/1 99 96 48 48 0.5 intronic rs11294872 SIPA1L2 AU NM_020808 exon20 c.94400-101delA 0.258387 0.1637 Uncertain 1_232629475_C->T 1 232629475 232629475 C T snp 111.77 0/1 99 21 16 5 0.24 intronic rs3737839 SIPA1L2 AU NM_020808 exon20 c.94534+69C>T 0.251997 0.1637 Uncertain 1_232650750_A->G 1 232650750 232650750 A G snp 3056.77 0/1 99 232 114 118 0.51 exonic rs3795366 SIPA1L2 AU synonymous SNV NM_020808 exon1 c.T336C p.S112S 0.835064 0.504 0.948408 0.8710 0.4609 Uncertain 1_232941354_G->T 1 232941354 232941354 G T snp 2865.77 1/1 99 104 0 104 1.0 exonic rs12567597 MAP10 AU synonymous SNV NM_019090 exon1 c.G585T p.L195L 0.122404 0.1726 0.100568 0.1839 0.3401 Uncertain 1_233086456_T->C 1 233086456 233086456 T C snp 1794.77 1/1 99 65 0 65 1.0 UTR5 rs13381 NTPCR AU 0.227236 0.1825 0.269994 0.2290 0.2214 Uncertain 1_233111951_G->A 1 233111951 233111951 G A snp 345.78 1/1 27 9 0 9 1.0 intronic rs1885004 NTPCR AU NM_032324 exon5 c.27452-1957G>A 0.233427 0.1815 Uncertain 1_233113827_G->T 1 233113827 233113827 G T snp 1927.77 1/1 99 69 0 69 1.0 intronic rs1045158 NTPCR AU NM_032324 exon5 c.27452-81G>T 0.209465 0.1756 Uncertain 1_233120192_G->A 1 233120192 233120192 G A snp 1779.77 0/1 99 168 91 77 0.46 exonic rs113070999 PCNXL2 AU nonsynonymous SNV NM_014801 exon34 c.C6272T p.A2091V 0.0317492 0.0665 0.026889 0.0332 0.0684 0.13 T 1 N -0.979 T 0.001 T 0.003 T Pathogenic 1_233121791_G->A 1 233121791 233121791 G A snp 836.77 0/1 99 71 37 34 0.48 intronic rs12038915 PCNXL2 AU NM_014801 exon2 c.1788-46G>A 0.175719 0.1637 0.218514 0.2004 0.1996 0 D 0.0 P -0.952 T 0.001 T 0.001 T Uncertain 1_233122127_C->T 1 233122127 233122127 C T snp 780.77 0/1 99 64 31 33 0.52 exonic rs41309639 PCNXL2 AU nonsynonymous SNV NM_014801 exon33 c.G5951A p.R1984Q 0.172324 0.1667 0.234247 0.2576 0.2580 1 T 1.0 P -0.956 T 0.013 T 0.005 T Pathogenic 1_233134086_C->T 1 233134086 233134086 C T snp 1644.77 0/1 99 141 80 61 0.43 exonic rs56231757 PCNXL2 AU nonsynonymous SNV NM_014801 exon32 c.G5702A p.S1901N 0.183506 0.12 0.235464 0.1972 0.1491 0.13 T 0.013 P -1.002 T 0.004 T 0.004 T Pathogenic 1_233150270_T->C 1 233150270 233150270 T C snp 348.78 1/1 27 10 0 10 1.0 intronic rs6424263 PCNXL2 AU NM_014801 exon7 c.30361-140T>C 0.473043 0.5446 Uncertain 1_233160772_T->C 1 233160772 233160772 T C snp 669.77 0/1 99 52 28 24 0.46 intronic rs17355937 PCNXL2 AU NM_014801 exon9 c.40842-119T>C 0.247204 0.2063 Uncertain 1_233225958_A->- 1 233225958 233225958 A - indel 577.73 0/1 99 68 29 39 0.57 intronic rs3215688 PCNXL2 AU NM_014801 exon12 c.105887+22delA 0.147963 0.1538 0.2612 0.2940 Uncertain 1_233269818_T->A 1 233269818 233269818 T A snp 74.77 0/1 99 7 4 3 0.43 intronic rs74317094 PCNXL2 AU NM_014801 exon14 c.150709-940T>A 0.0151757 0.0337 Uncertain 1_233296891_T->C 1 233296891 233296891 T C snp 376.77 0/1 99 25 10 15 0.6 intronic rs2296515 PCNXL2 AU NM_014801 exon17 c.176967-125T>C 0.565296 0.4157 Uncertain 1_233296908_T->G 1 233296908 233296908 T G snp 348.77 0/1 99 33 15 18 0.55 intronic rs2296516 PCNXL2 AU NM_014801 exon17 c.176967-108T>G 0.564497 0.4117 Uncertain 1_233297018_C->T 1 233297018 233297018 C T snp 579.77 0/1 99 48 20 28 0.58 exonic rs200009477 PCNXL2 AU nonsynonymous SNV NM_014801 exon18 c.G3365A p.R1122Q 0.000399 0.0001 0 1 T 1 D -1.040 T 0.128 T 0.042 T Pathogenic 1_233336044_T->A 1 233336044 233336044 T A snp 1166.77 0/1 99 107 54 53 0.5 intronic rs12024129 PCNXL2 AU NM_014801 exon21 c.215961+34T>A 0.26857 0.5496 0.148278 0.2126 0.5796 Uncertain 1_233362930_G->A 1 233362930 233362930 G A snp 1260.77 0/1 99 114 64 50 0.44 intronic rs701176 PCNXL2 AU NM_014801 exon25 c.242922-41G>A 0.339657 0.5298 0.218398 0.2863 0.5545 Uncertain 1_233395214_T->A 1 233395214 233395214 T A snp 602.77 1/1 45 15 0 15 1.0 intronic rs2139998 PCNXL2 AU NM_014801 exon30 c.275041+124T>A 0.467652 0.6062 Uncertain 1_233489499_A->G 1 233489499 233489499 A G snp 1057.77 1/1 78 33 0 33 1.0 intronic rs7539016 KIAA1804 AU NM_032435 exon3 c.25778-53A>G 0.510383 0.5595 Uncertain 1_233489529_G->A 1 233489529 233489529 G A snp 1378.77 1/1 99 42 1 41 0.98 intronic rs7549137 KIAA1804 AU NM_032435 exon3 c.25778-23G>A 0.510383 0.5595 0.419499 0.4496 0.4985 Uncertain 1_233489707_G->T 1 233489707 233489707 G T snp 2635.77 1/1 99 99 2 97 0.98 splicing rs7551511 KIAA1804 AU NM_032435 exon3 c.25927+6G>T 0.510383 0.5595 0.418576 0.5619 0.6112 Pathogenic 1_233490536_-->ATGTCTTGGGGATAATCTG 1 233490536 233490536 - ATGTCTTGGGGATAATCTG indel 11301.7 1/1 99 51 0 51 1.0 intronic rs137943316 KIAA1804 AU NM_032435 exon4 c.26807-45insATGTCTTGGGGATAATCTG 0.440096 0.499 0.4385 0.4872 Uncertain 1_233490543_G->A 1 233490543 233490543 G A snp 3676.77 1/1 99 124 0 124 1.0 intronic rs2049182 KIAA1804 AU NM_032435 exon4 c.26807-38G>A 0.510982 0.5595 0.410489 0.4392 0.4865 Uncertain 1_233490764_G->T 1 233490764 233490764 G T snp 1240.77 1/1 90 36 0 36 1.0 intronic rs4649219 KIAA1804 AU NM_032435 exon4 c.26983+7G>T 0.332069 0.3373 0.266416 0.2750 0.2899 Uncertain 1_233490776_C->T 1 233490776 233490776 C T snp 1041.77 1/1 78 27 0 27 1.0 intronic rs4649220 KIAA1804 AU NM_032435 exon4 c.26983+19C>T 0.356829 0.4018 0.266185 0.2895 0.3616 Uncertain 1_233512362_A->G 1 233512362 233512362 A G snp 4938.77 1/1 99 173 0 173 1.0 intronic rs10489691 KIAA1804 AU NM_032435 exon8 c.48499+89A>G 0.21246 0.3433 Uncertain 1_233514934_G->A 1 233514934 233514934 G A snp 3730.77 1/1 99 122 0 122 1.0 exonic rs3795375 KIAA1804 AU nonsynonymous SNV NM_032435 exon9 c.G2182A p.V728I 0.261182 0.3433 0.181916 0.2237 0.3082 0.15 T 0.0 P -1.007 T 0.901 T 0.254 P Pathogenic 1_233514975_G->T 1 233514975 233514975 G T snp 4112.77 1/1 99 146 0 146 1.0 exonic rs3795374 KIAA1804 AU nonsynonymous SNV NM_032435 exon9 c.G2223T p.E741D 0.276558 0.3442 0.197370 0.2273 0.3087 0.03 T 0.570 P -1.008 T 0.997 D 0.975 D Pathogenic 1_233515071_C->T 1 233515071 233515071 C T snp 5780.77 1/1 99 210 0 210 1.0 exonic rs963982 KIAA1804 AU synonymous SNV NM_032435 exon9 c.C2319T p.S773S 0.276757 0.3433 0.197294 0.2271 0.3080 Uncertain 1_233515102_T->G 1 233515102 233515102 T G snp 6387.77 1/1 99 228 0 228 1.0 exonic rs963981 KIAA1804 AU nonsynonymous SNV NM_032435 exon9 c.T2350G p.C784G 0.276358 0.3433 0.197294 0.2271 0.3088 0.61 T 0.0 P -1.045 T 0.0 T 0.0 T Pathogenic 1_233749855_A->G 1 233749855 233749855 A G snp 218.84 1/1 18 6 0 6 1.0 UTR5 rs2795294 KCNK1 AU 0.675519 0.744 Uncertain 1_233749896_-->TTGGCTTTGGCT 1 233749896 233749896 - TTGGCTTTGGCT indel 1065.73 0/1 99 14 6 8 0.57 UTR5 rs140745317 KCNK1 AU 0.28734 0.245 0.6306 0.6960 Uncertain 1_233759918_T->C 1 233759918 233759918 T C snp 667.77 0/1 99 67 35 32 0.48 ncRNA_exonic rs701213 MIR4427 AU 0.327476 0.3423 0.6875 . Uncertain 1_233760106_A->G 1 233760106 233760106 A G snp 50.74 1/1 6 2 0 2 1.0 intronic rs633860 KCNK1 AU NM_002245 exon1 c.355+9834A>G 0.566494 0.5913 Uncertain 1_233785786_A->C 1 233785786 233785786 A C snp 3824.77 1/1 99 131 0 131 1.0 intronic rs4649241 KCNK1 AU NM_002245 exon2 c.52423-16554A>C 0.535743 0.5704 0.465644 0.4795 0.5953 0 D 0.0 P -0.960 T Uncertain 1_234040742_A->C 1 234040742 234040742 A C snp 1312.77 0/1 99 110 53 57 0.52 UTR5 rs12136133 SLC35F3 AU 0.449481 0.4464 Uncertain 1_234040898_G->A 1 234040898 234040898 G A snp 1405.77 0/1 99 107 51 56 0.52 intronic rs78485515 SLC35F3 AU NM_173508 exon1 c.53+22G>A 0.0698882 0.1508 0.031240 0.0752 0.1820 Uncertain 1_234041317_C->T 1 234041317 234041317 C T snp 2449.77 0/1 99 185 87 98 0.53 exonic rs79244900 SLC35F3 AU synonymous SNV NM_173508 exon2 c.C96T p.S32S 0.0589058 0.1508 0.018991 0.0424 0.1607 Uncertain 1_234041422_G->C 1 234041422 234041422 G C snp 3546.77 0/1 99 250 117 133 0.53 exonic rs57010808 SLC35F3 AU synonymous SNV NM_173508 exon2 c.G201C p.P67P 0.450679 0.4474 0.496309 0.4853 0.4394 Uncertain 1_234367549_T->C 1 234367549 234367549 T C snp 674.77 0/1 99 59 31 28 0.47 intronic rs2236220 SLC35F3 AU NM_173508 exon3 c.326664+62T>C 0.391773 0.2252 Uncertain 1_234442376_G->A 1 234442376 234442376 G A snp 180.9 1/1 15 5 0 5 1.0 intronic rs674385 SLC35F3 AU NM_173508 exon4 c.404023-2470G>A 0.63139 0.6637 Uncertain 1_234454405_A->C 1 234454405 234454405 A C snp 588.77 1/1 45 17 0 17 1.0 intronic rs657010 SLC35F3 AU NM_173508 exon6 c.413673-91A>C 0.99401 1 Uncertain 1_234458668_G->A 1 234458668 234458668 G A snp 147.77 0/1 99 12 7 5 0.42 intronic rs35870005 SLC35F3 AU NM_173508 exon8 c.417930-85G>A 0.385783 0.5724 Uncertain 1_234563060_T->C 1 234563060 234563060 T C snp 1253.77 1/1 90 47 0 47 1.0 splicing rs443685 TARBP1 AU NM_005646 exon12 c.35740-2T>C 0.415136 0.4464 0.388000 0.3705 0.4307 Pathogenic 1_234607056_G->- 1 234607056 234607056 G - indel 799.73 0/1 99 54 32 22 0.41 intronic rs10713847 TARBP1 AU NM_005646 exon28 c.79681+53delG 0.136581 0.0863 0.144585 0.0994 0.0789 Uncertain 1_234607086_G->A 1 234607086 234607086 G A snp 281.77 0/1 99 36 22 14 0.39 intronic rs6687548 TARBP1 AU NM_005646 exon28 c.79681+83G>A 0.136581 0.0863 Uncertain 1_234607104_C->T 1 234607104 234607104 C T snp 213.77 0/1 99 18 9 9 0.5 intronic rs6697027 TARBP1 AU NM_005646 exon28 c.79681+101C>T 0.136581 0.0863 Uncertain 1_234613860_A->G 1 234613860 234613860 A G snp 484.77 0/1 99 64 42 22 0.34 intronic rs12082841 TARBP1 AU NM_005646 exon30 c.86596-58A>G 0.127396 0.0853 Uncertain 1_234614698_C->T 1 234614698 234614698 C T snp 251.77 0/1 99 20 6 14 0.7 exonic rs941965 TARBP1 AU nonsynonymous SNV NM_005646 exon1 c.G152A p.S51N 0.0890575 0.0804 0.037863 0.1003 0.1569 0.16 T 0.000 P -0.900 T 0.012 T 0.007 T Pathogenic 1_234744250_G->A 1 234744250 234744250 G A snp 1833.77 0/1 99 161 80 81 0.5 exonic rs8722 IRF2BP2 AU synonymous SNV NM_182972 exon1 c.C991T p.L331L 0.135783 0.2034 0.167820 0.2129 0.2289 Uncertain 1_234744413_C->A 1 234744413 234744413 C A snp 719.77 0/1 99 89 51 38 0.43 exonic rs4636 IRF2BP2 AU synonymous SNV NM_182972 exon1 c.G828T p.A276A 0.260783 0.2083 0.282225 0.4352 0.375 Uncertain 1_234745009_A->G 1 234745009 234745009 A G snp 858.77 0/1 99 74 39 35 0.47 exonic rs7545855 IRF2BP2 AU nonsynonymous SNV NM_182972 exon1 c.T232C p.S78P 0.603834 0.2679 0.6365 0.2 0.8 T 0.0 P -0.996 T 0.0 T 0.0 T Pathogenic 1_234953834_A->C 1 234953834 234953834 A C snp 84.28 1/1 9 11 0 11 1.0 intergenic rs200007946 LINC01132 AU 0.682907 0.8214 Uncertain 1_234953875_-->A 1 234953875 234953875 - A indel 369.74 1/1 30 10 0 10 1.0 intergenic rs138215498 LINC01132 AU 0.748003 0.8135 Uncertain 1_235384838_G->A 1 235384838 235384838 G A snp 187.77 0/1 99 23 14 9 0.39 intronic rs12117563 ARID4B AU NM_001206794 exon11 c.53040-41G>A 0.25599 0.6081 0.125771 0.2057 0.6003 Uncertain 1_235543477_TG->- 1 235543477 235543478 TG - indel 3430.73 ./1 99 120 2 118 0.98 intronic rs55672139 TBCE AR NM_003193 exon2 c.100+13_100+14delTG Uncertain 1_235543477_TGTGTGTGTGTGTG->- 1 235543477 235543490 TGTGTGTGTGTGTG - indel 3430.73 ./1 99 120 2 118 0.98 intronic rs750237565 TBCE AR NM_003193 exon2 c.100+13_100+26delTGTGTGTGTGTGTG 0.1814 0.0761 Uncertain 1_235594182_A->G 1 235594182 235594182 A G snp 624.77 1/1 48 25 0 25 1.0 intronic rs2291687 TBCE AR NM_003193 exon7 c.50755+63A>G 0.733826 0.6726 Uncertain 1_235594250_A->G 1 235594250 235594250 A G snp 99.28 1/1 9 3 0 3 1.0 intronic rs2291688 TBCE AR NM_003193 exon7 c.50755+131A>G 0.504593 0.6508 Uncertain 1_235598973_C->T 1 235598973 235598973 C T snp 1564.77 1/1 99 54 0 54 1.0 intronic rs2055127 TBCE AR NM_003193 exon9 c.55695-86C>T 0.50619 0.6558 Uncertain 1_235600053_-->C 1 235600053 235600053 - C indel 138.73 0/1 99 14 9 5 0.36 intronic rs60243825 TBCE AR NM_003193 exon11 c.56559+130insC 0.210064 0.494 Uncertain 1_235600056_C->T 1 235600056 235600056 C T snp 104.77 0/1 99 13 9 4 0.31 intronic rs199538420 TBCE AR NM_003193 exon11 c.56559+133C>T 0.0231629 0.1131 Uncertain 1_235601958_G->T 1 235601958 235601958 G T snp 1326.77 1/1 96 42 0 42 1.0 intronic rs3819974 TBCE AR NM_003193 exon13 c.58719-125G>T 0.723442 0.6776 Uncertain 1_235612320_C->T 1 235612320 235612320 C T snp 99.28 1/1 9 3 0 3 1.0 UTR3 rs704705 B3GALNT2 AR 0.744609 0.6756 Uncertain 1_235628908_G->A 1 235628908 235628908 G A snp 684.77 0/1 99 50 20 30 0.6 intronic rs1305556 B3GALNT2 AR NM_152490 exon6 c.15432-44G>A 0.673522 0.8413 0.514224 0.5818 0.8606 Uncertain 1_235647631_G->T 1 235647631 235647631 G T snp 302.77 0/1 99 30 20 10 0.33 intronic rs291387 B3GALNT2 AR NM_152490 exon9 c.34117-6G>T 0.678315 0.8403 0.520913 0.5847 0.8609 Uncertain 1_235652513_T->C 1 235652513 235652513 T C snp 2799.77 0/1 99 250 133 117 0.47 exonic rs291396 B3GALNT2 AR synonymous SNV NM_152490 exon3 c.A321G p.E107E 0.678714 0.8413 0.520913 0.5840 0.8609 Uncertain 1_235652776_T->- 1 235652776 235652776 T - indel 218.73 0/1 99 24 13 11 0.46 intronic rs11299116 B3GALNT2 AR NM_152490 exon10 c.39053+203delT 0.67472 0.8413 Uncertain 1_235667399_C->- 1 235667399 235667399 C - indel 107.73 0/1 99 10 5 5 0.5 intronic rs149884283 B3GALNT2 AR NM_152490 exon12 c.53920-41delC 0.365815 0.5188 0.228956 0 . Uncertain 1_235667690_A->G 1 235667690 235667690 A G snp 307.78 1/1 24 9 0 9 1.0 UTR5 rs291348 B3GALNT2 AR 0.678714 0.8433 Uncertain 1_235715523_A->G 1 235715523 235715523 A G snp 2483.77 1/1 99 98 0 98 1.0 exonic rs14326 GNG4 AU synonymous SNV NM_004485 exon3 c.T114C p.A38A 0.63119 0.8383 0.539136 0.5815 0.8604 Uncertain 1_235715556_C->G 1 235715556 235715556 C G snp 1807.77 1/1 99 61 0 61 1.0 intronic rs423026 GNG4 AU NM_004485 exon1 c.129+19C>G 0.623403 0.8383 0.531216 0.5800 0.8607 Uncertain 1_235715601_A->G 1 235715601 235715601 A G snp 951.77 1/1 69 28 0 28 1.0 intronic rs400948 GNG4 AU NM_004485 exon1 c.129+64A>G 0.623802 0.8383 Uncertain 1_235715617_A->C 1 235715617 235715617 A C snp 596.77 1/1 45 16 0 16 1.0 intronic rs452950 GNG4 AU NM_004485 exon1 c.129+80A>C 0.623802 0.8383 Uncertain 1_235747005_C->T 1 235747005 235747005 C T snp 1284.77 1/1 93 40 0 40 1.0 intronic rs2774335 GNG4 AU NM_004485 exon2 c.31631-34C>T 0.499401 0.7996 0.370368 0.4446 0.8038 Uncertain 1_235747154_A->G 1 235747154 235747154 A G snp 2992.77 1/1 99 113 0 113 1.0 splicing rs2774336 GNG4 AU NM_004485 exon2 c.31740+6A>G 0.494808 0.7996 0.364601 0.4419 0.8039 Pathogenic 1_235826383_A->- 1 235826383 235826383 A - indel 175.73 0/1 99 29 13 16 0.55 splicing rs36014994 LYST AR NM_000081 exon1 c.139+5delA 0.422724 0.1062 0.5064 0.2160 Pathogenic 1_235827443_T->C 1 235827443 235827443 T C snp 374.77 0/1 99 21 7 14 0.67 intronic rs3819013 LYST AR NM_000081 exon2 c.1116+88T>C 0.246406 0.0437 Uncertain 1_235827641_C->T 1 235827641 235827641 C T snp 116.77 0/1 99 8 4 4 0.5 intronic rs12092604 LYST AR NM_000081 exon3 c.1525-123C>T 0.402955 0.0437 Uncertain 1_235860340_C->T 1 235860340 235860340 C T snp 911.77 0/1 99 67 28 39 0.58 intronic rs7541057 LYST AR NM_000081 exon8 c.34143-42C>T 0.39996 0.0437 0.582282 0.4366 0.0535 Uncertain 1_235878431_-->GTT 1 235878431 235878431 - GTT indel 259.73 0/1 99 21 14 7 0.33 intronic rs3831362 LYST AR NM_000081 exon12 c.52261-69insGTT 0.126797 0.1667 Uncertain 1_235887276_G->T 1 235887276 235887276 G T snp 224.77 0/1 99 18 10 8 0.44 intronic rs6667717 LYST AR NM_000081 exon15 c.61088-51G>T 0.411741 0.0655 0.528253 Uncertain 1_235896726_C->T 1 235896726 235896726 C T snp 601.77 0/1 99 42 20 22 0.52 intronic rs6429275 LYST AR NM_000081 exon20 c.70563-76C>T 0.41254 0.0655 Uncertain 1_235910392_A->G 1 235910392 235910392 A G snp 407.77 0/1 99 37 20 17 0.46 intronic rs6676149 LYST AR NM_000081 exon25 c.83588+565A>G 0.304513 0.0655 Uncertain 1_235910448_CATTCCTGCAC->- 1 235910448 235910458 CATTCCTGCAC - indel 5453.73 0/1 99 77 35 42 0.55 intronic LYST AR NM_000081 exon25 c.83588+621_83588+631delCATTCCTGCAC Uncertain 1_235910542_C->T 1 235910542 235910542 C T snp 1045.77 0/1 99 117 67 50 0.43 intronic rs3754234 LYST AR NM_000081 exon25 c.83588+715C>T 0.411941 0.0655 0.2893 0.0657 1.000 P -1.037 T Uncertain 1_235918689_AAAAG->- 1 235918689 235918693 AAAAG - indel 757.73 0/1 99 24 11 13 0.54 intronic rs149138177 LYST AR NM_000081 exon29 c.92538-88_92538-84delAAAAG Uncertain 1_235940450_C->T 1 235940450 235940450 C T snp 1334.77 0/1 99 92 41 51 0.55 exonic rs2273584 LYST AR synonymous SNV NM_000081 exon17 c.G5373A p.K1791K 0.300919 0.0655 0.435414 0.3483 0.0604 Uncertain 1_235945186_G->A 1 235945186 235945186 G A snp 628.77 0/1 99 62 35 27 0.44 intronic rs72763416 LYST AR NM_000081 exon39 c.118987-40G>A 0.0706869 0.0407 0.116331 0.1057 0.0525 Uncertain 1_235945294_T->C 1 235945294 235945294 T C snp 1444.77 0/1 99 130 65 65 0.5 exonic rs6696123 LYST AR synonymous SNV NM_000081 exon15 c.A4956G p.L1652L 0.303514 0.0655 0.436106 0.3501 0.0605 Uncertain 1_235955150_G->A 1 235955150 235955150 G A snp 2650.77 0/1 99 231 123 108 0.47 exonic rs11583387 LYST AR synonymous SNV NM_000081 exon12 c.C4392T p.N1464N 0.0642971 0.0407 0.097724 0.0859 0.0501 Uncertain 1_235963454_C->A 1 235963454 235963454 C A snp 57.74 1/1 6 3 0 3 1.0 intronic rs72763422 LYST AR NM_000081 exon44 c.137380-165C>A 0.0706869 0.0407 Uncertain 1_235971763_A->G 1 235971763 235971763 A G snp 1045.77 0/1 99 122 72 50 0.41 exonic rs3768066 LYST AR synonymous SNV NM_000081 exon5 c.T2355C p.L785L 0.0706869 0.0407 0.116485 0.1035 0.0507 Uncertain 1_235972435_T->C 1 235972435 235972435 T C snp 3319.77 0/1 99 250 116 134 0.54 exonic rs3820553 LYST AR synonymous SNV NM_000081 exon5 c.A1683G p.L561L 0.302716 0.0665 0.436645 0.3499 0.0602 Uncertain 1_235972867_T->C 1 235972867 235972867 T C snp 3016.77 0/1 99 249 130 119 0.48 exonic rs1063128 LYST AR synonymous SNV NM_000081 exon5 c.A1251G p.Q417Q 0.303315 0.0655 0.436491 0.3500 0.0601 Uncertain 1_236141174_T->C 1 236141174 236141174 T C snp 895.77 0/1 99 112 72 40 0.36 exonic rs3213190 NID1 AU nonsynonymous SNV NM_002508 exon20 c.A3737G p.Q1246R 0.344249 0.6131 0.233969 0.2374 0.6005 1 T 0.000 P -0.926 T 0.0 T 0.0 T Pathogenic 1_236141227_C->T 1 236141227 236141227 C T snp 1556.77 0/1 99 119 51 68 0.57 exonic rs145340331 NID1 AU synonymous SNV NM_002508 exon20 c.G3684A p.G1228G 0.00219649 0.0099 0.000231 0.0011 0.0133 Uncertain 1_236142253_T->G 1 236142253 236142253 T G snp 1740.77 0/1 99 131 61 70 0.53 intronic rs12032474 NID1 AU NM_002508 exon2 c.1128-41T>G 0.34385 0.6141 0.233200 0.2378 0.6034 Uncertain 1_236142565_T->C 1 236142565 236142565 T C snp 2473.77 1/1 99 72 0 72 1.0 intronic rs1536132 NID1 AU NM_002508 exon2 c.1241+158T>C 0.777756 0.7212 Uncertain 1_236142570_C->G 1 236142570 236142570 C G snp 714.77 0/1 99 63 38 25 0.4 intronic rs3738524 NID1 AU NM_002508 exon2 c.1241+163C>G 0.297923 0.6141 Uncertain 1_236143302_-->A 1 236143302 236143302 - A indel 581.73 0/1 99 80 43 37 0.46 intronic rs3831989 NID1 AU NM_002508 exon3 c.2079+57insA 0.337859 0.6141 Uncertain 1_236144754_C->A 1 236144754 236144754 C A snp 56.74 1/1 6 2 0 2 1.0 intronic rs3820558 NID1 AU NM_002508 exon5 c.3744-156C>A 0.310104 0.6319 Uncertain 1_236144951_A->G 1 236144951 236144951 A G snp 1088.77 0/1 99 93 42 51 0.55 exonic rs3738525 NID1 AU synonymous SNV NM_002508 exon16 c.T3187C p.L1063L 0.334465 0.6151 0.227510 0.2346 0.6015 Uncertain 1_236145145_T->C 1 236145145 236145145 T C snp 83.77 0/1 33 5 2 3 0.6 intronic rs715956 NID1 AU NM_002508 exon5 c.3916+63T>C 0.334864 0.6151 Uncertain 1_236154058_GGACTACAT->- 1 236154058 236154066 GGACTACAT - indel 1944.73 0/1 99 29 10 19 0.66 intronic rs139359390 NID1 AU NM_002508 exon7 c.13019-127_13019-119delGGACTACAT 0.303115 0.624 Uncertain 1_236154365_G->T 1 236154365 236154365 G T snp 585.77 0/1 99 33 14 19 0.58 intronic rs4660137 NID1 AU NM_002508 exon7 c.13192+7G>T 0.347843 0.6429 0.239736 0.2598 0.6301 Uncertain 1_236157277_T->G 1 236157277 236157277 T G snp 1426.77 0/1 99 129 73 56 0.43 intronic rs16833075 NID1 AU NM_002508 exon8 c.16006+105T>G 0.307308 0.5456 Uncertain 1_236175339_T->C 1 236175339 236175339 T C snp 2307.77 0/1 99 168 69 99 0.59 exonic rs2031487 NID1 AU synonymous SNV NM_002508 exon12 c.A2409G p.V803V 0.696685 0.7698 0.585115 0.5915 0.7648 Uncertain 1_236180580_C->G 1 236180580 236180580 C G snp 750.77 0/1 99 67 37 30 0.45 intronic rs3768081 NID1 AU NM_002508 exon11 c.39407+7C>G 0.404353 0.6706 0.188528 0.2681 0.6869 Uncertain 1_236192782_G->A 1 236192782 236192782 G A snp 181.77 0/1 99 24 14 10 0.42 intronic rs3818238 NID1 AU NM_002508 exon14 c.51683-67G>A 0.219249 0.4117 Uncertain 1_236193145_G->C 1 236193145 236193145 G C snp 725.77 0/1 99 58 28 30 0.52 intronic rs2273586 NID1 AU NM_002508 exon14 c.51884+95G>C 0.442492 0.498 Uncertain 1_236205121_T->C 1 236205121 236205121 T C snp 147.77 0/1 99 9 4 5 0.56 intronic rs4297282 NID1 AU NM_002508 exon17 c.64043-88T>C 0.584864 0.7034 Uncertain 1_236208688_A->G 1 236208688 236208688 A G snp 368.77 0/1 99 34 21 13 0.38 intronic rs10733131 NID1 AU NM_002508 exon18 c.67590-68A>G 0.585663 0.7034 Uncertain 1_236208689_T->A 1 236208689 236208689 T A snp 399.77 0/1 99 34 21 13 0.38 intronic rs10733132 NID1 AU NM_002508 exon18 c.67590-67T>A Uncertain 1_236208773_C->T 1 236208773 236208773 C T snp 2204.77 0/1 99 223 123 100 0.45 exonic rs10733133 NID1 AU nonsynonymous SNV NM_002508 exon3 c.G736A p.V246I 0.58726 0.7063 0.493311 0.4858 0.6800 1 T 0.0 P -0.962 T 0.0 T 0.004 T Pathogenic 1_236209024_C->G 1 236209024 236209024 C G snp 1043.77 0/1 99 69 29 40 0.58 intronic rs3768088 NID1 AU NM_002508 exon18 c.67817+41C>G 0.58726 0.7063 0.491073 0.5117 0.6946 Uncertain 1_236209081_G->A 1 236209081 236209081 G A snp 353.77 0/1 99 17 5 12 0.71 intronic rs3768089 NID1 AU NM_002508 exon18 c.67817+98G>A 0.565495 0.7063 Uncertain 1_236368708_T->C 1 236368708 236368708 T C snp 197.77 0/1 87 10 4 6 0.6 intronic rs1254206 GPR137B AU NM_003272 exon6 c.62628+158T>C 0.663339 0.8502 Uncertain 1_236371260_C->T 1 236371260 236371260 C T snp 243.77 0/1 99 19 11 8 0.42 intronic rs1880913 GPR137B AU NM_003272 exon7 c.65427-89C>T 0.27496 0.2073 Uncertain 1_236381825_G->C 1 236381825 236381825 G C snp 736.77 1/1 54 29 0 29 1.0 exonic rs1055851 ERO1LB AU nonsynonymous SNV NM_019891 exon16 c.C1395G p.H465Q 0.569289 0.8839 0.431327 0.4961 0.8873 0.42 T 1.000 P -0.969 T 0.001 T 0.001 T Pathogenic 1_236381897_T->A 1 236381897 236381897 T A snp 322.78 1/1 24 13 0 13 1.0 intronic rs1615601 ERO1LB AU NM_019891 exon1 c.61+21T>A 0.569289 0.8839 0.429078 0.4983 0.8878 Uncertain 1_236381917_T->A 1 236381917 236381917 T A snp 229.84 1/1 18 8 0 8 1.0 intronic rs1614938 ERO1LB AU NM_019891 exon1 c.61+41T>A 0.569289 0.8839 0.428296 0.4953 0.8875 Uncertain 1_236384022_-->TTT 1 236384022 236384022 - TTT indel 285.77 1/1 21 7 0 7 1.0 intronic rs34880815 ERO1LB AU NM_019891 exon2 c.2316-109insTTT 0.549321 0.8502 Uncertain 1_236384278_G->C 1 236384278 236384278 G C snp 745.77 1/1 54 26 0 26 1.0 intronic rs1405624 ERO1LB AU NM_019891 exon2 c.2450+13G>C 0.569489 0.8849 0.429154 0.5074 0.8882 Uncertain 1_236385116_C->T 1 236385116 236385116 C T snp 345.78 1/1 27 10 0 10 1.0 intronic rs2463190 ERO1LB AU NM_019891 exon3 c.3408-107C>T 0.569289 0.8849 Uncertain 1_236385165_G->C 1 236385165 236385165 G C snp 1297.77 1/1 93 44 0 44 1.0 intronic rs2463189 ERO1LB AU NM_019891 exon3 c.3408-58G>C 0.569289 0.8849 Uncertain 1_236385360_C->T 1 236385360 236385360 C T snp 2126.77 1/1 99 77 0 77 1.0 intronic rs2477587 ERO1LB AU NM_019891 exon3 c.3495+50C>T 0.569489 0.8849 0.431979 0.5003 0.8886 Uncertain 1_236385379_A->G 1 236385379 236385379 A G snp 1693.77 1/1 99 59 0 59 1.0 intronic rs2463188 ERO1LB AU NM_019891 exon3 c.3495+69A>G 0.569489 0.8849 Uncertain 1_236388346_G->A 1 236388346 236388346 G A snp 2366.77 0/1 99 226 123 103 0.46 intronic rs3768092 ERO1LB AU NM_019891 exon4 c.6554-23G>A 0.126997 0.124 0.102952 0.1375 0.1108 Uncertain 1_236393654_A->G 1 236393654 236393654 A G snp 523.77 1/1 39 16 0 16 1.0 intronic rs2812471 ERO1LB AU NM_019891 exon7 c.11735+104A>G 0.95627 1 Uncertain 1_236398938_C->T 1 236398938 236398938 C T snp 43.77 0/1 72 4 2 2 0.5 intronic rs1268614 ERO1LB AU NM_019891 exon9 c.17273-150C>T 0.251198 0.3929 Uncertain 1_236413147_T->C 1 236413147 236413147 T C snp 306.77 0/1 99 33 20 13 0.39 intronic rs1726639 ERO1LB AU NM_019891 exon12 c.31369-37T>C 0.260783 0.3968 0.229109 0.2825 0.4135 Uncertain 1_236413282_G->A 1 236413282 236413282 G A snp 512.77 0/1 99 80 51 29 0.36 intronic rs2056713 ERO1LB AU NM_019891 exon12 c.31452+15G>A 0.260783 0.3968 0.229099 0.2800 0.4087 Uncertain 1_236413362_C->T 1 236413362 236413362 C T snp 206.77 0/1 99 23 15 8 0.35 intronic rs2477598 ERO1LB AU NM_019891 exon12 c.31452+95C>T 0.260783 0.3968 Uncertain 1_236413384_T->C 1 236413384 236413384 T C snp 140.77 0/1 99 13 8 5 0.38 intronic rs2477597 ERO1LB AU NM_019891 exon12 c.31452+117T>C 0.260783 0.3968 Uncertain 1_236415347_T->C 1 236415347 236415347 T C snp 916.77 0/1 99 69 29 40 0.58 splicing rs1749589 ERO1LB AU NM_019891 exon13 c.33534-2T>C 0.260783 0.3968 0.229202 0.2686 0.4007 Pathogenic 1_236415444_G->A 1 236415444 236415444 G A snp 277.77 0/1 99 18 5 13 0.72 intronic rs1618510 ERO1LB AU NM_019891 exon13 c.33576+53G>A 0.252396 0.3968 Uncertain 1_236416557_A->G 1 236416557 236416557 A G snp 68.77 0/1 97 9 6 3 0.33 intronic rs1726659 ERO1LB AU NM_019891 exon14 c.34906-164A>G 0.260783 0.3968 Uncertain 1_236416921_C->T 1 236416921 236416921 C T snp 252.77 0/1 99 33 23 10 0.3 intronic rs2812465 ERO1LB AU NM_019891 exon14 c.34990+116C>T 0.260783 0.3968 Uncertain 1_236416923_C->T 1 236416923 236416923 C T snp 626.77 0/1 99 31 10 21 0.68 intronic rs10082203 ERO1LB AU NM_019891 exon14 c.34990+118C>T 0.192292 0.0962 Uncertain 1_236433136_T->- 1 236433136 236433136 T - indel 717.73 0/1 99 48 28 20 0.42 intronic rs3834089 ERO1LB AU NM_019891 exon15 c.51359-38delT 0.809904 0.8829 0.823027 0.8450 0.8904 Uncertain 1_236444879_-->GCCCGGCCCT 1 236444879 236444879 - GCCCGGCCCT indel 899.73 0/1 99 13 5 8 0.62 intronic rs11281666 ERO1LB AU NM_019891 exon16 c.63166-102insGCCCGGCCCT 0.63738 0.8591 Uncertain 1_236444973_C->T 1 236444973 236444973 C T snp 502.77 0/1 99 47 21 26 0.55 intronic rs1269025 ERO1LB AU NM_019891 exon16 c.63166-8C>T 0.252396 0.379 0.224453 0.3438 0.4458 Uncertain 1_236445212_A->G 1 236445212 236445212 A G snp 56.74 1/1 6 2 0 2 1.0 UTR5 rs2764567 ERO1LB AU 0.965655 0.999 Uncertain 1_236557771_G->A 1 236557771 236557771 G A snp 2163.77 1/1 99 90 0 90 1.0 exonic rs966365 EDARADD AR,AD nonsynonymous SNV NM_145861 exon1 c.G27A p.M9I 0.776757 0.9187 0.738352 0.8308 0.9191 0.33 T 0.000 P -0.991 T 0.0 T 0.0 T Pathogenic 1_236557804_G->A 1 236557804 236557804 G A snp 735.77 0/1 99 93 55 38 0.41 exonic rs60808129 EDARADD AR,AD synonymous SNV NM_145861 exon1 c.G60A p.E20E 0.0910543 0.3065 0.006151 0.0440 0.3108 Uncertain 1_236557928_G->A 1 236557928 236557928 G A snp 361.78 1/1 27 13 0 13 1.0 intronic rs966364 EDARADD AR,AD NM_145861 exon1 c.61+123G>A 0.772364 0.9187 Uncertain 1_236572389_G->A 1 236572389 236572389 G A snp 153.77 0/1 61 9 3 6 0.67 intronic rs659901 EDARADD AR,AD NM_080738 exon2 c.13586-126G>A 0.613219 0.3899 Uncertain 1_236572475_A->G 1 236572475 236572475 A G snp 491.77 0/1 99 55 31 24 0.44 intronic rs669710 EDARADD AR,AD NM_080738 exon2 c.13586-40A>G 0.461861 0.2927 0.544749 0.5302 0.2599 Uncertain 1_236590563_C->T 1 236590563 236590563 C T snp 126.77 0/1 99 36 26 10 0.28 intronic rs1778861 EDARADD AR,AD NM_080738 exon4 c.31762-128C>T 0.358227 0.2619 Uncertain 1_236590629_C->T 1 236590629 236590629 C T snp 269.77 0/1 99 40 26 14 0.35 intronic rs636378 EDARADD AR,AD NM_080738 exon4 c.31762-62C>T 0.358027 0.2609 0.469969 Uncertain 1_236590659_G->C 1 236590659 236590659 G C snp 284.77 0/1 99 32 21 11 0.34 intronic rs636048 EDARADD AR,AD NM_080738 exon4 c.31762-32G>C 0.358227 0.2619 0.452142 0.5081 0.2382 Uncertain 1_236590816_T->G 1 236590816 236590816 T G snp 181.77 0/1 99 16 6 10 0.63 intronic rs635487 EDARADD AR,AD NM_080738 exon4 c.31821+66T>G 0.395367 0.2619 0.503530 Uncertain 1_236631633_A->G 1 236631633 236631633 A G snp 897.77 0/1 99 103 61 42 0.41 intronic rs16833716 EDARADD AR,AD NM_080738 exon5 c.72647+57A>G 0.0457268 0.0764 0.028909 Uncertain 1_236701105_T->A 1 236701105 236701105 T A snp 56.74 1/1 6 2 0 2 1.0 intronic rs75416658 LGALS8 AU NM_201545 exon4 c.11515+220T>A 0.0379393 0.0288 Uncertain 1_236702210_A->G 1 236702210 236702210 A G snp 118.77 0/1 99 13 7 6 0.46 exonic rs1041937 LGALS8 AU nonsynonymous SNV NM_006499 exon5 c.A166G p.M56V 0.630391 0.6577 0.697524 0.6754 0.6336 1 T 0.000 P -0.993 T 0.0 T 0.001 T Pathogenic 1_236703832_-->G 1 236703832 236703832 - G indel 369.73 0/1 99 27 11 16 0.59 intronic rs3216037 LGALS8 AU NM_201545 exon6 c.14493-31insG 0.0367 0.1479 Uncertain 1_236706278_G->T 1 236706278 236706278 G T snp 3068.77 0/1 99 240 106 134 0.56 exonic rs2273863 LGALS8 AU nonsynonymous SNV NM_006499 exon9 c.G613T p.D205Y 0.13119 0.1806 0.091650 0.0678 0.1469 1 T 0.001 P -1.097 T 0.729 T 0.351 P Pathogenic 1_236706300_T->A 1 236706300 236706300 T A snp 2872.77 0/1 99 223 98 125 0.56 exonic rs2273865 LGALS8 AU stopgain NM_006499 exon9 c.T635A p.L212X 0.13119 0.1806 0.091650 0.0678 0.1469 0.63 T 1.0 P Pathogenic 1_236706671_T->A 1 236706671 236706671 T A snp 221.84 1/1 18 7 0 7 1.0 intronic rs2243530 LGALS8 AU NM_201545 exon10 c.17489-188T>A 0.677716 0.6855 Uncertain 1_236706780_C->T 1 236706780 236706780 C T snp 1467.77 1/1 99 50 0 50 1.0 intronic rs2243527 LGALS8 AU NM_201545 exon10 c.17489-79C>T 0.677915 0.6865 0.7361 0.6947 0.08 T 0.0 P -1.007 T Uncertain 1_236706862_G->C 1 236706862 236706862 G C snp 2213.77 1/1 99 83 0 83 1.0 exonic rs2243525 LGALS8 AU nonsynonymous SNV NM_006499 exon10 c.G678C p.R226S 0.677716 0.6865 0.742657 0.7188 0.6589 0.49 T 0.0 P -1.044 T 0.0 T 0.0 T Pathogenic 1_236711218_A->T 1 236711218 236711218 A T snp 36.77 0/1 33 3 1 2 0.67 intronic rs117527236 LGALS8 AU NM_201545 exon12 c.21941-93A>T 0.0379393 0.0278 Uncertain 1_236711618_A->C 1 236711618 236711618 A C snp 336.77 0/1 99 21 9 12 0.57 UTR3 rs1041939 LGALS8 AU 0.137979 0.1806 Uncertain 1_236716833_T->C 1 236716833 236716833 T C snp 1235.77 0/1 99 125 72 53 0.42 intronic rs115237098 HEATR1 AU NM_018072 exon3 c.2679-47T>C 0.0383387 0.0298 0.023912 0.0387 0.0210 Uncertain 1_236717102_A->T 1 236717102 236717102 A T snp 72.77 0/1 99 7 4 3 0.43 intronic rs79114936 HEATR1 AU NM_018072 exon3 c.2838+63A>T 0.038139 0.0298 Uncertain 1_236717849_C->T 1 236717849 236717849 C T snp 1266.77 0/1 99 122 67 55 0.45 intronic rs74827320 HEATR1 AU NM_018072 exon4 c.3696-48C>T 0.0684904 0.1756 0.016761 0.0329 0.1411 Uncertain 1_236718060_C->T 1 236718060 236718060 C T snp 457.77 0/1 99 44 26 18 0.41 intronic rs73113054 HEATR1 AU NM_018072 exon4 c.3851+8C>T 0.122604 0.1766 0.071505 0.0514 0.1416 Uncertain 1_236719135_T->C 1 236719135 236719135 T C snp 3509.77 1/1 99 124 0 124 1.0 exonic rs1885532 HEATR1 AU synonymous SNV NM_018072 exon39 c.A5619G p.E1873E 0.873003 0.9593 0.840766 0.8414 0.9619 Uncertain 1_236719688_A->G 1 236719688 236719688 A G snp 144.77 0/1 99 10 5 5 0.5 intronic rs1407518 HEATR1 AU NM_018072 exon8 c.5357+130A>G 0.621805 0.6538 Uncertain 1_236720733_A->T 1 236720733 236720733 A T snp 320.77 0/1 99 34 21 13 0.38 intronic rs3754246 HEATR1 AU NM_018072 exon9 c.6444+88A>T 0.0684904 0.1756 Uncertain 1_236720761_T->C 1 236720761 236720761 T C snp 214.77 0/1 99 18 10 8 0.44 intronic rs2799404 HEATR1 AU NM_018072 exon9 c.6444+116T>C 0.614816 0.6538 Uncertain 1_236721610_G->A 1 236721610 236721610 G A snp 1421.77 0/1 99 134 71 63 0.47 exonic rs2275688 HEATR1 AU synonymous SNV NM_018072 exon36 c.C5131T p.L1711L 0.614816 0.6538 0.692911 0.6731 0.6327 Uncertain 1_236721660_T->C 1 236721660 236721660 T C snp 5937.77 1/1 99 219 1 218 1.0 exonic rs2275689 HEATR1 AU nonsynonymous SNV NM_018072 exon36 c.A5081G p.N1694S 0.677316 0.6825 0.742888 0.7187 0.6533 0.77 T 0.0 P -1.000 T 0.0 T 0.0 T Pathogenic 1_236721731_T->C 1 236721731 236721731 T C snp 6928.77 1/1 99 249 0 249 1.0 exonic rs819431 HEATR1 AU synonymous SNV NM_018072 exon36 c.A5010G p.A1670A 0.999601 1 0.998693 0.9996 0.9999 Uncertain 1_236722182_A->T 1 236722182 236722182 A T snp 990.77 1/1 75 34 0 34 1.0 intronic rs819432 HEATR1 AU NM_018072 exon11 c.8093-112A>T 0.999601 1 Uncertain 1_236722489_C->T 1 236722489 236722489 C T snp 164.77 0/1 63 10 3 7 0.7 intronic rs2146122 HEATR1 AU NM_018072 exon11 c.8234+54C>T 0.615615 0.6538 Uncertain 1_236723074_G->C 1 236723074 236723074 G C snp 826.77 0/1 99 79 40 39 0.49 exonic rs77776078 HEATR1 AU nonsynonymous SNV NM_018072 exon34 c.C4710G p.D1570E 0.0684904 0.1756 0.016838 0.0329 0.1416 0.08 T 1.000 P -1.089 T 0.349 T 0.131 T Pathogenic 1_236723108_C->T 1 236723108 236723108 C T snp 790.77 0/1 99 80 42 38 0.47 exonic rs6661946 HEATR1 AU nonsynonymous SNV NM_018072 exon34 c.G4676A p.S1559N 0.171725 0.1766 0.133477 0.0795 0.1417 0.8 T 1.000 P -0.948 T 0.0 T 0.0 T Pathogenic 1_236724504_G->A 1 236724504 236724504 G A snp 817.77 0/1 99 67 34 33 0.49 intronic rs1077439 HEATR1 AU NM_018072 exon13 c.10323-20G>A 0.578874 0.6538 0.643165 0.6634 0.6319 Uncertain 1_236724605_G->T 1 236724605 236724605 G T snp 999.77 0/1 99 110 65 45 0.41 intronic rs1077438 HEATR1 AU NM_018072 exon13 c.10370+34G>T 0.578674 0.6538 0.645109 0.6630 0.6314 Uncertain 1_236724715_T->G 1 236724715 236724715 T G snp 528.77 0/1 99 39 20 19 0.49 intronic rs1077437 HEATR1 AU NM_018072 exon13 c.10370+144T>G 0.578874 0.6538 Uncertain 1_236724766_C->T 1 236724766 236724766 C T snp 79.77 0/1 99 8 4 4 0.5 intronic rs1077436 HEATR1 AU NM_018072 exon13 c.10370+195C>T 0.578474 0.6518 Uncertain 1_236729418_G->A 1 236729418 236729418 G A snp 398.77 0/1 99 26 12 14 0.54 intronic rs539454578 HEATR1 AU NM_018072 exon15 c.15144+73G>A 0.000399361 0.001 Uncertain 1_236729834_G->A 1 236729834 236729834 G A snp 990.77 0/1 99 62 28 34 0.55 intronic rs7544230 HEATR1 AU NM_018072 exon16 c.15744-111G>A 0.163538 0.1766 Uncertain 1_236732427_G->A 1 236732427 236732427 G A snp 889.77 0/1 99 80 39 41 0.51 splicing rs79830964 HEATR1 AU NM_018072 exon17 c.18223+3G>A 0.067492 0.1756 0.016533 0.0337 0.1425 Pathogenic 1_236737396_T->C 1 236737396 236737396 T C snp 347.77 0/1 99 25 8 17 0.68 intronic rs10495379 HEATR1 AU NM_018072 exon22 c.23300-105T>C 0.102636 0.1756 Uncertain 1_236737657_A->G 1 236737657 236737657 A G snp 161.77 0/1 99 23 17 6 0.26 intronic rs74145926 HEATR1 AU NM_018072 exon22 c.23432+24A>G 0.102636 0.1756 0.066231 0.0574 0.1427 Uncertain 1_236737874_-->T 1 236737874 236737874 - T indel 88.73 0/1 99 11 5 6 0.55 intronic rs199519007 HEATR1 AU NM_018072 exon23 c.23759-86insT Uncertain 1_236737888_C->T 1 236737888 236737888 C T snp 456.77 0/1 99 29 10 19 0.66 intronic rs78822940 HEATR1 AU NM_018072 exon23 c.23759-72C>T 0.0377396 0.0278 Uncertain 1_236737983_A->G 1 236737983 236737983 A G snp 1137.77 0/1 99 138 84 54 0.39 exonic rs79225714 HEATR1 AU nonsynonymous SNV NM_018072 exon23 c.T3305C p.I1102T 0.067492 0.1756 0.016690 0.0328 0.1419 0.3 T 1.000 P -1.105 T 0.0 T 0.0 T Pathogenic 1_236738237_T->C 1 236738237 236738237 T C snp 740.77 0/1 99 57 30 27 0.47 intronic rs74145927 HEATR1 AU NM_018072 exon23 c.24002+34T>C 0.102636 0.1756 0.066672 0.0590 0.1440 Uncertain 1_236739416_C->T 1 236739416 236739416 C T snp 449.77 0/1 99 44 24 20 0.45 intronic rs2115740 HEATR1 AU NM_018072 exon24 c.25317-102C>T 0.560104 0.6548 Uncertain 1_236740039_G->C 1 236740039 236740039 G C snp 909.77 0/1 99 54 20 34 0.63 intronic rs6658793 HEATR1 AU NM_018072 exon25 c.25878-40G>C 0.559505 0.6518 0.635091 0.6566 0.6322 Uncertain 1_236740135_T->C 1 236740135 236740135 T C snp 889.77 0/1 99 111 70 41 0.37 exonic rs16833953 HEATR1 AU nonsynonymous SNV NM_018072 exon21 c.A2870G p.D957G 0.0377396 0.0278 0.023758 0.0380 0.0202 0.09 T 0.005 P -0.961 T 0.054 T 0.034 T Pathogenic 1_236744721_A->- 1 236744721 236744721 A - indel 452.86 1/1 2 45 4 41 0.91 intronic rs11338847 HEATR1 AU NM_018072 exon26 c.30513+7delA 0.326278 0.2956 0.3223 0.2669 Uncertain 1_236746275_G->C 1 236746275 236746275 G C snp 1639.77 0/1 99 117 55 62 0.53 intronic rs2794769 HEATR1 AU NM_018072 exon28 c.32111-37G>C 0.51857 0.6518 0.580348 0.6247 0.6298 Uncertain 1_236746443_C->T 1 236746443 236746443 C T snp 763.77 0/1 99 57 25 32 0.56 exonic rs2794768 HEATR1 AU synonymous SNV NM_018072 exon18 c.G2295A p.V765V 0.51857 0.6518 0.580271 0.6237 0.6307 Uncertain 1_236746511_G->A 1 236746511 236746511 G A snp 376.77 0/1 99 27 13 14 0.52 intronic rs16833972 HEATR1 AU NM_018072 exon28 c.32295+15G>A 0.0882588 0.1756 0.054360 0.0617 0.1423 Uncertain 1_236748433_G->A 1 236748433 236748433 G A snp 3067.77 0/1 99 250 130 120 0.48 exonic rs3738535 HEATR1 AU synonymous SNV NM_018072 exon17 c.C2133T p.L711L 0.0882588 0.1756 0.055667 0.0608 0.1418 Uncertain 1_236748505_T->C 1 236748505 236748505 T C snp 3353.77 0/1 99 245 115 130 0.53 exonic rs1006456 HEATR1 AU synonymous SNV NM_018072 exon17 c.A2061G p.L687L 0.51857 0.6518 0.580194 0.6248 0.6319 Uncertain 1_236748630_C->T 1 236748630 236748630 C T snp 948.77 0/1 99 37 9 28 0.76 intronic rs1006455 HEATR1 AU NM_018072 exon29 c.34315+114C>T 0.51857 0.6518 Uncertain 1_236749022_G->A 1 236749022 236749022 G A snp 103.77 0/1 99 10 6 4 0.4 intronic rs10925166 HEATR1 AU NM_018072 exon30 c.34918-97G>A 0.51857 0.6518 Uncertain 1_236749026_T->A 1 236749026 236749026 T A snp 92.77 0/1 99 11 6 5 0.45 intronic rs10925167 HEATR1 AU NM_018072 exon30 c.34918-93T>A 0.508786 0.6508 Uncertain 1_236749348_C->T 1 236749348 236749348 C T snp 232.77 0/1 88 11 4 7 0.64 intronic rs2794764 HEATR1 AU NM_018072 exon30 c.35040+107C>T 0.51857 0.6518 Uncertain 1_236749626_C->T 1 236749626 236749626 C T snp 570.77 0/1 99 53 26 27 0.51 exonic rs3738541 HEATR1 AU synonymous SNV NM_018072 exon15 c.G1842A p.T614T 0.0890575 0.1766 0.055607 0.0608 0.1414 Uncertain 1_236749730_C->T 1 236749730 236749730 C T snp 615.77 0/1 99 71 43 28 0.39 exonic rs60920266 HEATR1 AU nonsynonymous SNV NM_018072 exon15 c.G1738A p.A580T 0.0700879 0.1756 0.019535 0.0335 0.1415 0.29 T 0.002 P -1.087 T 0.002 T 0.002 T Pathogenic 1_236749817_C->T 1 236749817 236749817 C T snp 207.77 0/1 99 21 13 8 0.38 intronic rs2799420 HEATR1 AU NM_018072 exon31 c.35551+65C>T 0.51857 0.6518 Uncertain 1_236751269_C->T 1 236751269 236751269 C T snp 1155.77 0/1 99 99 48 51 0.52 exonic rs78459283 HEATR1 AU synonymous SNV NM_018072 exon13 c.G1605A p.L535L 0.0672923 0.1756 0.016613 0.0327 0.1412 Uncertain 1_236754110_A->G 1 236754110 236754110 A G snp 399.77 0/1 99 26 12 14 0.54 intronic rs78564511 HEATR1 AU NM_018072 exon34 c.39945-36A>G 0.0942492 0.249 0.012458 0.0726 0.3308 Uncertain 1_236755170_G->T 1 236755170 236755170 G T snp 1141.77 0/1 99 104 56 48 0.46 intronic rs2794760 HEATR1 AU NM_018072 exon35 c.41091-122G>T 0.557708 0.7242 Uncertain 1_236755427_A->G 1 236755427 236755427 A G snp 417.77 0/1 99 29 15 14 0.48 intronic rs2794759 HEATR1 AU NM_018072 exon35 c.41209+17A>G 0.559505 0.7242 0.605676 0.6565 0.7306 Uncertain 1_236755690_G->A 1 236755690 236755690 G A snp 154.77 0/1 99 16 8 8 0.5 intronic rs2794758 HEATR1 AU NM_018072 exon36 c.41621-132G>A 0.559704 0.7242 Uncertain 1_236755814_G->A 1 236755814 236755814 G A snp 708.77 0/1 99 77 41 36 0.47 intronic rs2794757 HEATR1 AU NM_018072 exon36 c.41621-8G>A 0.559305 0.7232 0.601220 0.6311 0.6987 Uncertain 1_236755837_C->T 1 236755837 236755837 C T snp 556.77 0/1 99 72 40 32 0.44 exonic rs2564739 HEATR1 AU synonymous SNV NM_018072 exon10 c.G1290A p.R430R 0.559505 0.7242 0.601728 0.6416 0.7156 Uncertain 1_236755856_T->C 1 236755856 236755856 T C snp 511.77 0/1 99 68 42 26 0.38 exonic rs78786861 HEATR1 AU nonsynonymous SNV NM_018072 exon10 c.A1271G p.Q424R 0.0105831 0.0298 0.000386 0.0087 0.0347 0.39 T 1 D -1.032 T 0.001 T 0.001 T Pathogenic 1_236755938_A->- 1 236755938 236755938 A - indel 187.73 0/1 99 31 13 18 0.58 splicing rs67239913 HEATR1 AU NM_018072 exon36 c.41732+5delA 0.546925 0.7014 0.6083 0.6699 Pathogenic 1_236757121_G->C 1 236757121 236757121 G C snp 44.77 0/1 33 3 1 2 0.67 intronic rs2794755 HEATR1 AU NM_018072 exon37 c.43110-190G>C 0.559704 0.7242 Uncertain 1_236757200_A->G 1 236757200 236757200 A G snp 344.77 0/1 99 23 10 13 0.57 intronic rs2564738 HEATR1 AU NM_018072 exon37 c.43110-111A>G 0.559505 0.7242 Uncertain 1_236757229_G->A 1 236757229 236757229 G A snp 500.77 0/1 99 30 11 19 0.63 intronic rs2794754 HEATR1 AU NM_018072 exon37 c.43110-82G>A 0.559505 0.7242 Uncertain 1_236758887_T->C 1 236758887 236758887 T C snp 1558.77 0/1 99 132 58 74 0.56 exonic rs2794751 HEATR1 AU nonsynonymous SNV NM_018072 exon8 c.A1043G p.H348R 0.559505 0.7242 0.605567 0.6549 0.7302 0.41 T 1.000 P -0.962 T 0.0 T 0.001 T Pathogenic 1_236759060_T->C 1 236759060 236759060 T C snp 395.77 0/1 99 33 18 15 0.45 intronic rs2794750 HEATR1 AU NM_018072 exon39 c.44931-72T>C 0.550519 0.7242 Uncertain 1_236766447_T->A 1 236766447 236766447 T A snp 1445.77 0/1 99 95 44 51 0.54 intronic rs16834050 HEATR1 AU NM_018072 exon43 c.52258-12T>A 0.038139 0.0278 0.022913 0.0380 0.0204 Uncertain 1_236767072_A->G 1 236767072 236767072 A G snp 93.28 1/1 9 6 0 6 1.0 intronic rs1529540 HEATR1 AU NM_018072 exon44 c.53052-181A>G 0.578874 0.752 Uncertain 1_236767179_G->- 1 236767179 236767179 G - indel 1354.73 1/1 99 41 1 40 0.98 intronic rs375752396 HEATR1 AU NM_018072 exon44 c.53052-74delG 0.554712 0.6429 Uncertain 1_236767182_G->A 1 236767182 236767182 G A snp 56.77 0/1 85 41 31 10 0.24 intronic rs6650089 HEATR1 AU NM_018072 exon44 c.53052-71G>A 0.141973 0.1062 Uncertain 1_236767330_A->G 1 236767330 236767330 A G snp 1836.77 1/1 99 72 0 72 1.0 exonic rs10802551 HEATR1 AU synonymous SNV NM_018072 exon2 c.T66C p.S22S 0.583267 0.752 0.601338 0.6658 0.7505 Uncertain 1_236882110_G->A 1 236882110 236882110 G A snp 2153.77 1/1 99 81 0 81 1.0 intronic rs1341865 ACTN2 AD NM_001278343 exon3 c.32220-83G>A 0.992612 1 Uncertain 1_236882303_T->C 1 236882303 236882303 T C snp 2258.77 1/1 99 77 0 77 1.0 exonic rs1341864 ACTN2 AD synonymous SNV NM_001103 exon3 c.T351C p.I117I 0.992612 1 0.992234 0.9979 1 CLINSIG=non-pathogenic|non-pathogenic,non-pathogenic;CLNDBN=not_provided|not_specified,not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter|criteria_provided\x2c_single_submitter,criteria_provided\x2c_single_submitter;CLNACC=RCV000123504.1|RCV000150147.1,RCV000036910.2;CLNDSDB=MedGen|MedGen,MedGen;CLNDSDBID=CN221809|CN169374,CN169374 Uncertain 1_236883240_T->C 1 236883240 236883240 T C snp 224.84 1/1 18 6 0 6 1.0 intronic rs1768053 ACTN2 AD NM_001278343 exon4 c.33431-164T>C 0.992013 1 Uncertain 1_236883421_C->T 1 236883421 236883421 C T snp 1372.77 0/1 99 124 61 63 0.51 exonic rs1341863 ACTN2 AD synonymous SNV NM_001103 exon4 c.C378T p.N126N 0.920727 0.9831 0.937721 0.9624 0.9812 CLINSIG=non-pathogenic|non-pathogenic,non-pathogenic;CLNDBN=not_provided|not_specified,not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter|criteria_provided\x2c_single_submitter,criteria_provided\x2c_single_submitter;CLNACC=RCV000123505.1|RCV000154428.1,RCV000036911.2;CLNDSDB=MedGen|MedGen,MedGen;CLNDSDBID=CN221809|CN169374,CN169374 Uncertain 1_236883564_G->A 1 236883564 236883564 G A snp 499.77 0/1 99 47 28 19 0.4 intronic rs1341862 ACTN2 AD NM_001278343 exon4 c.33518+73G>A 0.922324 0.9831 Uncertain 1_236889111_G->C 1 236889111 236889111 G C snp 161.77 0/1 99 15 9 6 0.4 intronic rs12081658 ACTN2 AD NM_001278343 exon5 c.39259-121G>C 0.0692891 0.0179 Uncertain 1_236890815_GAT->- 1 236890815 236890817 GAT - indel 654.73 0/1 99 19 6 13 0.68 intronic rs147735389 ACTN2 AD NM_001278343 exon6 c.41004-162_41004-160delGAT 0.0577077 0.0179 Uncertain 1_236894647_G->A 1 236894647 236894647 G A snp 2140.77 0/1 99 210 112 98 0.47 intronic rs819640 ACTN2 AD NM_001278343 exon7 c.44641+33G>A 0.491613 0.5595 0.398047 0.3882 0.5539 Uncertain 1_236897633_A->G 1 236897633 236897633 A G snp 4275.77 1/1 99 134 0 134 1.0 intronic rs707203 ACTN2 AD NM_001278343 exon8 c.47759-99A>G 1 1 Uncertain 1_236897867_T->C 1 236897867 236897867 T C snp 1621.77 0/1 99 124 62 62 0.5 intronic rs16834301 ACTN2 AD NM_001278343 exon8 c.47845+49T>C 0.165535 0.2907 0.0850 0.2423 Uncertain 1_236899042_G->A 1 236899042 236899042 G A snp 2175.77 0/1 99 214 113 101 0.47 intronic rs2288600 ACTN2 AD NM_001103 exon8 c.49047+22G>A 0.195887 0.1935 0.156620 0.1667 0.1983 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000154429.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 1_236899900_C->- 1 236899900 236899900 C - indel 1331.73 0/1 99 90 40 50 0.56 intronic rs11355106 ACTN2 AD NM_001278344 exon10 c.885+43delC 0.528155 0.4802 0.6069 0.5253 Uncertain 1_236902594_C->G 1 236902594 236902594 C G snp 2065.77 0/1 99 203 115 88 0.43 intronic rs2288601 ACTN2 AD NM_001278343 exon10 c.52628-7C>G 0.767572 0.7837 0.777487 0.7753 0.7994 CLINSIG=non-pathogenic,non-pathogenic|non-pathogenic;CLNDBN=not_specified,not_specified|not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter,criteria_provided\x2c_single_submitter|criteria_provided\x2c_single_submitter;CLNACC=RCV000154430.1,RCV000036923.2|RCV000123510.1;CLNDSDB=MedGen,MedGen|MedGen;CLNDSDBID=CN169374,CN169374|CN221809 Uncertain 1_236908199_A->C 1 236908199 236908199 A C snp 234.77 0/1 99 20 10 10 0.5 intronic rs146451960 ACTN2 AD NM_001278343 exon12 c.58103+123A>C 0.0147764 0.0149 Uncertain 1_236910863_T->C 1 236910863 236910863 T C snp 35.77 0/1 64 6 4 2 0.33 intronic rs10802557 ACTN2 AD NM_001278343 exon13 c.60993-103T>C 0.327875 0.4306 Uncertain 1_236912286_G->A 1 236912286 236912286 G A snp 292.78 1/1 24 8 0 8 1.0 intronic rs2297956 ACTN2 AD NM_001278343 exon14 c.62450-137G>A 0.916334 0.9563 Uncertain 1_236914576_C->T 1 236914576 236914576 C T snp 182.9 1/1 15 5 0 5 1.0 intronic rs3738544 ACTN2 AD NM_001278343 exon15 c.64796-193C>T 0.585463 0.5714 Uncertain 1_236914610_G->C 1 236914610 236914610 G C snp 634.77 1/1 48 19 0 19 1.0 intronic rs3738545 ACTN2 AD NM_001278343 exon15 c.64796-159G>C 0.586661 0.5714 Uncertain 1_236918211_C->T 1 236918211 236918211 C T snp 43.77 0/1 72 4 2 2 0.5 intronic rs147972685 ACTN2 AD NM_001278343 exon17 c.68345-107C>T 0.00199681 0.0089 Uncertain 1_236924280_G->A 1 236924280 236924280 G A snp 868.77 0/1 99 71 38 33 0.46 intronic rs76681978 ACTN2 AD NM_001278343 exon20 c.74341-34G>A 0.00139776 0.006 0.000615 0.0016 0.0053 Uncertain 1_236924334_G->A 1 236924334 236924334 G A snp 2425.77 0/1 99 179 78 101 0.56 exonic rs772409484 ACTN2 AD nonsynonymous SNV NM_001103 exon20 c.G2387A p.R796H 8.236e-06 0.0001 0.07 T 1 D 0.204 D 0.999 D 0.998 D Pathogenic 1_236924506_A->G 1 236924506 236924506 A G snp 3675.77 1/1 99 123 0 123 1.0 intronic rs2282366 ACTN2 AD NM_001278343 exon20 c.74500+33A>G 0.798123 0.7421 0.860910 0.8500 0.7159 Uncertain 1_236925844_G->A 1 236925844 236925844 G A snp 1087.77 0/1 99 103 53 50 0.49 exonic rs12063382 ACTN2 AD synonymous SNV NM_001103 exon21 c.G2610A p.S870S 0.196086 0.2183 0.155697 0.1688 0.1860 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter|criteria_provided\x2c_single_submitter;CLNACC=RCV000036905.2|RCV000123526.1;CLNDSDB=MedGen|MedGen;CLNDSDBID=CN169374|CN221809 Uncertain 1_236926030_A->G 1 236926030 236926030 A G snp 119.78 0/1 27 6 1 5 0.83 UTR3 rs1051251 ACTN2 AD 0.34984 0.3532 Uncertain 1_236958532_G->T 1 236958532 236958532 G T snp 844.77 0/1 99 73 38 35 0.48 upstream rs28372871 MTR AR 0.467252 0.4692 Uncertain 1_236978992_-->TCTG 1 236978992 236978992 - TCTG indel 8805.73 1/1 99 138 0 138 1.0 intronic rs3054157 MTR AR NM_000254 exon7 c.19960+29insTCTG 0.769569 0.7847 0.730591 0.6832 0.8125 Uncertain 1_236979597_A->G 1 236979597 236979597 A G snp 135.03 1/1 12 4 0 4 1.0 intronic rs3795708 MTR AR NM_000254 exon8 c.20745-151A>G 0.316893 0.3968 Uncertain 1_236988593_-->T 1 236988593 236988593 - T indel 2445.73 1/1 99 70 0 70 1.0 intronic rs397705283 MTR AR NM_000254 exon10 c.29634-44insT 0.315495 0.3919 0.344034 0.3776 0.4075 Uncertain 1_237001926_A->G 1 237001926 237001926 A G snp 1281.77 1/1 96 38 0 38 1.0 intronic rs3820568 MTR AR NM_000254 exon15 c.42896+27A>G 0.327676 0.4266 0.351146 0.3889 0.4424 Uncertain 1_237023333_T->C 1 237023333 237023333 T C snp 361.77 1/1 30 10 0 10 1.0 intronic rs10925254 MTR AR NM_000254 exon19 c.64219+111T>C 0.641773 0.5774 Uncertain 1_237038008_T->A 1 237038008 237038008 T A snp 113.77 0/1 99 9 5 4 0.44 intronic rs10925256 MTR AR NM_000254 exon24 c.79022-17T>A 0.381989 0.3889 0.000698 0.3603 0.3546 Uncertain 1_237038161_T->C 1 237038161 237038161 T C snp 1030.77 0/1 99 99 48 51 0.52 intronic rs1770449 MTR AR NM_000254 exon24 c.79143+15T>C 0.232228 0.2222 0.266646 0.3184 0.1938 CLINSIG=non-pathogenic;CLNDBN=not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000126867.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Uncertain 1_237048562_G->A 1 237048562 237048562 G A snp 626.77 1/1 48 17 0 17 1.0 intronic rs2275566 MTR AR NM_000254 exon26 c.89516+43G>A 0.761781 0.7788 0.722419 0.6799 0.8108 Uncertain 1_237049879_C->T 1 237049879 237049879 C T snp 384.77 1/1 30 12 0 12 1.0 intronic rs12065382 MTR AR NM_000254 exon27 c.90664+212C>T 0.324281 0.4236 Uncertain 1_237052792_T->A 1 237052792 237052792 T A snp 264.8 1/1 21 8 0 8 1.0 intronic rs3768150 MTR AR NM_000254 exon28 c.93633+156T>A 0.733427 0.7847 Uncertain 1_237054569_A->G 1 237054569 237054569 A G snp 696.77 0/1 99 62 35 27 0.44 exonic rs2229276 MTR AR synonymous SNV NM_000254 exon29 c.A3144G p.A1048A 0.323283 0.4276 0.340535 0.3833 0.4469 CLINSIG=non-pathogenic;CLNDBN=not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000126869.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Uncertain 1_237057608_G->A 1 237057608 237057608 G A snp 1731.77 0/1 99 116 53 63 0.54 intronic rs2297965 MTR AR NM_000254 exon30 c.98653-48G>A 0.53754 0.5218 0.560587 0.5898 0.5470 Uncertain 1_237058744_C->A 1 237058744 237058744 C A snp 1916.77 0/1 99 189 102 87 0.46 exonic rs12070777 MTR AR synonymous SNV NM_000254 exon31 c.C3492A p.R1164R 0.321486 0.4196 0.341664 0.4330 0.4739 CLINSIG=non-pathogenic;CLNDBN=not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000126862.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Uncertain 1_237058828_C->T 1 237058828 237058828 C T snp 787.77 0/1 99 80 46 34 0.42 exonic rs1131449 MTR AR synonymous SNV NM_000254 exon31 c.C3576T p.L1192L 0.529153 0.5198 0.546064 0.6193 0.6073 CLINSIG=non-pathogenic;CLNDBN=not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000126863.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Uncertain 1_237060433_G->T 1 237060433 237060433 G T snp 1994.77 0/1 99 133 53 80 0.6 intronic rs3820571 MTR AR NM_000254 exon32 c.101415+15G>T 0.752396 0.7778 0.713363 0.6756 0.8104 CLINSIG=non-pathogenic;CLNDBN=not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000126864.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Uncertain 1_237061056_A->C 1 237061056 237061056 A C snp 216.84 1/1 18 6 0 6 1.0 UTR3 rs2853522 MTR AR 0.540136 0.5258 Uncertain 1_237063335_G->C 1 237063335 237063335 G C snp 4741.77 1/1 99 181 0 181 1.0 UTR3 rs1050996 MTR AR 0.732827 0.7847 Uncertain 1_237063504_A->G 1 237063504 237063504 A G snp 2578.77 1/1 99 90 0 90 1.0 UTR3 rs9779 MTR AR 0.321885 0.4256 0.3793 0.5 Uncertain 1_237433524_C->T 1 237433524 237433524 C T snp 1534.77 0/1 99 177 105 72 0.41 intronic rs2275288 RYR2 AD NM_001035 exon2 c.227975-272C>T 0.241414 0.5238 Uncertain 1_237433625_C->T 1 237433625 237433625 C T snp 1409.77 0/1 99 168 106 62 0.37 intronic rs2275287 RYR2 AD NM_001035 exon2 c.227975-171C>T 0.411542 0.6954 0.3757 0.6767 Uncertain 1_237540802_T->G 1 237540802 237540802 T G snp 449.77 0/1 99 33 17 16 0.48 intronic rs76433903 RYR2 AD NM_001035 exon8 c.334914+67T>G 0.0357428 0.1687 Uncertain 1_237551376_T->A 1 237551376 237551376 T A snp 881.77 0/1 99 71 35 36 0.51 intronic rs10754602 RYR2 AD NM_001035 exon10 c.345565-10T>A 0.55651 0.6458 0.527282 0.5751 0.6446 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_multiple_submitters\x2c_no_conflicts;CLNACC=RCV000036781.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 1_237580606_G->T 1 237580606 237580606 G T snp 810.77 1/1 60 22 0 22 1.0 intronic rs6673182 RYR2 AD NM_001035 exon11 c.374602+183G>T 0.874201 0.998 Uncertain 1_237580612_G->C 1 237580612 237580612 G C snp 755.77 1/1 57 20 0 20 1.0 intronic rs6673187 RYR2 AD NM_001035 exon11 c.374602+189G>C 0.873602 0.998 Uncertain 1_237617757_C->T 1 237617757 237617757 C T snp 4310.77 1/1 99 163 0 163 1.0 exonic rs3765097 RYR2 AD synonymous SNV NM_001035 exon15 c.C1359T p.S453S 0.535743 0.7391 0.511932 0.5755 0.7367 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_multiple_submitters\x2c_no_conflicts;CLNACC=RCV000036681.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 1_237619875_-->T 1 237619875 237619875 - T indel 1239.73 0/1 74 101 15 86 0.85 intronic rs397516518 RYR2 AD NM_001035 exon16 c.414078-24insT 0.417332 0.5069 0.3928 0.4494 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000036702.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 1_237620049_T->C 1 237620049 237620049 T C snp 4106.77 1/1 99 147 0 147 1.0 intronic rs2045955 RYR2 AD NM_001035 exon16 c.414214+14T>C 0.53115 0.7788 0.463378 0.5514 0.7990 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_multiple_submitters\x2c_no_conflicts;CLNACC=RCV000036708.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 1_237632285_-->T 1 237632285 237632285 - T indel 871.73 1/1 60 20 0 20 1.0 intronic rs35662567 RYR2 AD NM_001035 exon17 c.426570-106insT 0.530351 0.7431 Uncertain 1_237656185_-->AGGGAGGG 1 237656185 237656185 - AGGGAGGG indel 875.73 0/1 99 30 20 10 0.33 intronic rs139196633 RYR2 AD NM_001035 exon19 c.450432-68insAGGGAGGG Uncertain 1_237666549_C->G 1 237666549 237666549 C G snp 1135.77 0/1 99 94 43 51 0.54 intronic rs573884918 RYR2 AD NM_001035 exon22 c.460767-39C>G 0.00119808 0.006 0.0003 0.0075 Uncertain 1_237670140_A->G 1 237670140 237670140 A G snp 1640.77 0/1 99 138 68 70 0.51 intronic rs2618702 RYR2 AD NM_001035 exon23 c.464293+26A>G 0.699481 0.7272 0.710468 0.6804 0.7145 Uncertain 1_237693610_-->A 1 237693610 237693610 - A indel 354.73 0/1 99 64 33 31 0.48 intronic rs34521733 RYR2 AD NM_001035 exon25 c.487905-116insA 0.417732 0.4752 Uncertain 1_237693921_A->G 1 237693921 237693921 A G snp 264.8 1/1 21 7 0 7 1.0 intronic rs2779365 RYR2 AD NM_001035 exon25 c.487989+111A>G 0.775559 0.8988 Uncertain 1_237711644_T->C 1 237711644 237711644 T C snp 813.77 1/1 60 25 0 25 1.0 intronic rs2618661 RYR2 AD NM_001035 exon26 c.505909-86T>C 0.830272 0.872 Uncertain 1_237711797_A->G 1 237711797 237711797 A G snp 2739.77 1/1 99 101 0 101 1.0 exonic rs2253273 RYR2 AD synonymous SNV NM_001035 exon26 c.A2973G p.S991S 0.830272 0.872 0.851108 0.9262 0.8849 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_multiple_submitters\x2c_no_conflicts;CLNACC=RCV000036722.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 1_237714103_G->A 1 237714103 237714103 G A snp 351.78 1/1 27 10 0 10 1.0 intronic rs2306238 RYR2 AD NM_001035 exon27 c.508170+112G>A 0.201877 0.2222 Uncertain 1_237729774_G->A 1 237729774 237729774 G A snp 99.28 1/1 9 4 0 4 1.0 intronic rs2248295 RYR2 AD NM_001035 exon28 c.524045-92G>A 0.795527 0.8661 Uncertain 1_237730124_A->G 1 237730124 237730124 A G snp 739.77 1/1 57 26 0 26 1.0 intronic rs2805390 RYR2 AD NM_001035 exon28 c.524254+49A>G 0.905551 0.999 0.905522 0.9575 0.9994 Uncertain 1_237730169_C->T 1 237730169 237730169 C T snp 99.28 1/1 9 6 0 6 1.0 intronic rs2779401 RYR2 AD NM_001035 exon28 c.524254+94C>T 0.919329 0.999 Uncertain 1_237732395_G->A 1 237732395 237732395 G A snp 330.78 1/1 27 9 0 9 1.0 intronic rs2805396 RYR2 AD NM_001035 exon29 c.526623-49G>A 0.492812 0.2619 0.593504 0.6443 0.2708 Uncertain 1_237753075_T->- 1 237753075 237753075 T - indel 4629.73 1/1 99 159 3 156 0.98 intronic rs11331089 RYR2 AD NM_001035 exon30 c.547271-17delT 0.285144 0.2659 0.346829 0.4622 0.3421 CLINSIG=probable-non-pathogenic;CLNDBN=Cardiomyopathy;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000030420.1;CLNDSDB=MedGen:SNOMED_CT;CLNDSDBID=C0878544:85898001 Uncertain 1_237753364_A->C 1 237753364 237753364 A C snp 461.77 1/1 36 12 0 12 1.0 intronic rs2805409 RYR2 AD NM_001035 exon30 c.547480+63A>C 0.336861 0.3105 Uncertain 1_237753390_A->G 1 237753390 237753390 A G snp 99.28 1/1 9 3 0 3 1.0 intronic rs2805410 RYR2 AD NM_001035 exon30 c.547480+89A>G 0.337061 0.3115 Uncertain 1_237754340_A->G 1 237754340 237754340 A G snp 1194.77 1/1 90 36 0 36 1.0 intronic rs1332777 RYR2 AD NM_001035 exon31 c.548471+48A>G 0.33746 0.3105 0.386307 0.4467 0.3210 Uncertain 1_237755188_C->T 1 237755188 237755188 C T snp 6150.77 1/1 99 212 0 212 1.0 intronic rs2618713 RYR2 AD NM_001035 exon32 c.549332+35C>T 0.335863 0.3105 0.389149 0.4598 0.3536 Uncertain 1_237755203_T->C 1 237755203 237755203 T C snp 5634.77 1/1 99 189 0 189 1.0 intronic rs2779430 RYR2 AD NM_001035 exon32 c.549332+50T>C 0.33746 0.3105 0.381897 0.4317 0.3243 Uncertain 1_237757027_G->A 1 237757027 237757027 G A snp 772.77 1/1 57 22 0 22 1.0 intronic rs1478915 RYR2 AD NM_001035 exon33 c.551115+91G>A 0.337859 0.3105 Uncertain 1_237765200_G->A 1 237765200 237765200 G A snp 301.78 1/1 24 9 0 9 1.0 intronic rs2805418 RYR2 AD NM_001035 exon35 c.559503-124G>A 0.341454 0.3105 Uncertain 1_237765470_A->T 1 237765470 237765470 A T snp 529.77 1/1 39 19 0 19 1.0 intronic rs791541 RYR2 AD NM_001035 exon35 c.559590+59A>T 0.293131 0.2659 0.360352 Uncertain 1_237788844_T->C 1 237788844 237788844 T C snp 93.28 1/1 9 3 0 3 1.0 intronic rs571092 RYR2 AD NM_001035 exon40 c.583139-116T>C 0.741214 0.6736 Uncertain 1_237788862_T->C 1 237788862 237788862 T C snp 99.28 1/1 9 3 0 3 1.0 intronic rs571026 RYR2 AD NM_001035 exon40 c.583139-98T>C 0.740016 0.6726 Uncertain 1_237789317_A->G 1 237789317 237789317 A G snp 56.74 1/1 6 2 0 2 1.0 intronic rs512336 RYR2 AD NM_001035 exon40 c.583283+213A>G 0.83107 0.8026 Uncertain 1_237794603_A->G 1 237794603 237794603 A G snp 1011.77 1/1 75 29 0 29 1.0 intronic rs1759123 RYR2 AD NM_001035 exon42 c.588905-123A>G 0.615016 0.5784 Uncertain 1_237796759_G->C 1 237796759 237796759 G C snp 332.77 0/1 99 32 19 13 0.41 intronic rs10925478 RYR2 AD NM_001035 exon43 c.591056-118G>C 0.245208 0.4266 Uncertain 1_237796837_G->A 1 237796837 237796837 G A snp 1161.77 0/1 99 118 69 49 0.42 intronic rs10802626 RYR2 AD NM_001035 exon43 c.591056-40G>A 0.428514 0.4782 0.386791 0.3636 0.4728 Uncertain 1_237796850_A->G 1 237796850 237796850 A G snp 1892.77 0/1 99 136 60 76 0.56 intronic rs12563366 RYR2 AD NM_001035 exon43 c.591056-27A>G 0.155152 0.3313 0.083540 0.1078 0.3305 Uncertain 1_237797082_T->G 1 237797082 237797082 T G snp 261.77 0/1 99 23 13 10 0.43 intronic rs1967579 RYR2 AD NM_001035 exon43 c.591189+72T>G 0.440695 0.4792 Uncertain 1_237797103_C->A 1 237797103 237797103 C A snp 71.77 0/1 99 6 3 3 0.5 intronic rs1967580 RYR2 AD NM_001035 exon43 c.591189+93C>A 0.274361 0.4246 Uncertain 1_237798450_G->A 1 237798450 237798450 G A snp 177.77 0/1 99 13 7 6 0.46 intronic rs3736543 RYR2 AD NM_001035 exon44 c.592471+158G>A 0.314896 0.4236 Uncertain 1_237801770_T->C 1 237801770 237801770 T C snp 3783.77 1/1 99 142 0 142 1.0 exonic rs707189 RYR2 AD synonymous SNV NM_001035 exon45 c.T6906C p.L2302L 0.954872 1 0.959206 0.9884 1 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_multiple_submitters\x2c_no_conflicts;CLNACC=RCV000036783.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 1_237802559_T->C 1 237802559 237802559 T C snp 1319.77 1/1 93 52 0 52 1.0 intronic rs530109 RYR2 AD NM_001035 exon46 c.596680+58T>C 0.998203 1 Uncertain 1_237813126_A->G 1 237813126 237813126 A G snp 108.77 0/1 99 18 12 6 0.33 intronic rs625006 RYR2 AD NM_001035 exon50 c.607355-50A>G 0.573083 0.8105 Uncertain 1_237814783_C->T 1 237814783 237814783 C T snp 688.77 0/1 99 55 27 28 0.51 exonic rs684923 RYR2 AD synonymous SNV NM_001035 exon51 c.C7806T p.H2602H 0.554912 0.7956 0.450733 0.5198 0.7888 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_multiple_submitters\x2c_no_conflicts;CLNACC=RCV000036793.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 1_237817515_A->- 1 237817515 237817515 A - indel 827.73 0/1 99 55 23 32 0.58 intronic rs3831940 RYR2 AD NM_001035 exon52 c.611752-58delA 0.447484 0.5437 Uncertain 1_237817784_A->G 1 237817784 237817784 A G snp 675.77 0/1 99 42 18 24 0.57 intronic rs669375 RYR2 AD NM_001035 exon52 c.611893+70A>G 0.353435 0.5228 Uncertain 1_237819014_C->G 1 237819014 237819014 C G snp 225.77 0/1 99 13 6 7 0.54 intronic rs515474 RYR2 AD NM_001035 exon53 c.613299-106C>G 0.389577 0.5129 Uncertain 1_237823476_A->G 1 237823476 237823476 A G snp 83.77 0/1 30 4 1 3 0.75 intronic rs1342834 RYR2 AD NM_001035 exon55 c.617553+102A>G 0.277756 0.4603 Uncertain 1_237823959_C->T 1 237823959 237823959 C T snp 50.74 1/1 6 2 0 2 1.0 intronic rs475234 RYR2 AD NM_001035 exon56 c.618288-150C>T 0.995607 1 Uncertain 1_237824332_G->A 1 237824332 237824332 G A snp 176.9 1/1 15 6 0 6 1.0 intronic rs471647 RYR2 AD NM_001035 exon56 c.618426+85G>A 0.994808 1 Uncertain 1_237831103_C->A 1 237831103 237831103 C A snp 180.9 1/1 15 5 0 5 1.0 intronic rs477245 RYR2 AD NM_001035 exon58 c.625361-79C>A 0.952077 1 Uncertain 1_237862164_G->C 1 237862164 237862164 G C snp 516.77 0/1 99 38 16 22 0.58 intronic rs1521745 RYR2 AD NM_001035 exon64 c.656443-100G>C 0.491414 0.4067 Uncertain 1_237863439_G->A 1 237863439 237863439 G A snp 721.77 0/1 99 46 20 26 0.57 intronic rs12754190 RYR2 AD NM_001035 exon65 c.657707-89G>A 0.461462 0.4028 Uncertain 1_237863718_T->G 1 237863718 237863718 T G snp 1738.77 1/1 99 60 0 60 1.0 exonic rs2797436 RYR2 AD synonymous SNV NM_001035 exon65 c.T9318G p.S3106S 0.969249 1 0.971824 0.9917 1 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_multiple_submitters\x2c_no_conflicts;CLNACC=RCV000036803.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 1_237865203_C->T 1 237865203 237865203 C T snp 1155.77 1/1 84 36 0 36 1.0 intronic rs939699 RYR2 AD NM_001035 exon66 c.659456-74C>T 0.969249 1 Uncertain 1_237872715_T->- 1 237872715 237872715 T - indel 592.73 1/1 69 23 0 23 1.0 intronic rs35261418 RYR2 AD NM_001035 exon70 c.666958-64delT 0.765974 0.8958 Uncertain 1_237881770_C->T 1 237881770 237881770 C T snp 2221.77 1/1 99 87 0 87 1.0 exonic rs2797441 RYR2 AD synonymous SNV NM_001035 exon73 c.C10503T p.T3501T 0.960463 1 0.961616 0.9886 1 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_multiple_submitters\x2c_no_conflicts;CLNACC=RCV000036650.5;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 1_237890437_C->T 1 237890437 237890437 C T snp 4085.77 1/1 99 157 0 157 1.0 exonic rs2685301 RYR2 AD synonymous SNV NM_001035 exon76 c.C10776T p.S3592S 0.960264 1 0.960779 0.9885 1 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_multiple_submitters\x2c_no_conflicts;CLNACC=RCV000036653.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 1_237893674_C->T 1 237893674 237893674 C T snp 4131.77 1/1 99 154 0 154 1.0 intronic rs2797445 RYR2 AD NM_001035 exon77 c.687835+18C>T 0.985224 1 0.985376 0.9954 1 Uncertain 1_237923053_C->T 1 237923053 237923053 C T snp 4495.77 1/1 99 167 0 167 1.0 intronic rs2253831 RYR2 AD NM_001035 exon83 c.717254-22C>T 0.761581 0.8204 0.725983 0.7109 0.7763 Uncertain 1_237946964_T->C 1 237946964 237946964 T C snp 1333.77 1/1 96 43 0 43 1.0 intronic rs790889 RYR2 AD NM_001035 exon90 c.741153-10T>C 0.414736 0.6964 0.326707 0.4859 0.7067 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_multiple_submitters\x2c_no_conflicts;CLNACC=RCV000036668.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 1_237951451_A->G 1 237951451 237951451 A G snp 3239.77 1/1 99 112 0 112 1.0 intronic rs2256242 RYR2 AD NM_001035 exon92 c.745614+16A>G 0.636581 0.7024 0.617642 0.5750 0.6762 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000079376.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 1_237954545_G->C 1 237954545 237954545 G C snp 209.84 1/1 18 6 0 6 1.0 intronic rs790904 RYR2 AD NM_001035 exon93 c.748907-183G>C 0.61222 0.8552 Uncertain 1_237955650_TGTG->- 1 237955650 237955653 TGTG - indel 528.73 1/1 33 27 0 27 1.0 intronic rs529587905 RYR2 AD NM_001035 exon94 c.749802+27_749802+30delTGTG 0.528155 0.6746 0.4514 0.4979 Uncertain 1_237955678_T->C 1 237955678 237955678 T C snp 285.9 0/1 15 11 1 10 0.91 intronic rs144369382 RYR2 AD NM_001035 exon94 c.749802+55T>C 0.528155 0.6746 Uncertain 1_237955680_T->C 1 237955680 237955680 T C snp 348.78 1/1 27 11 0 11 1.0 intronic rs146659498 RYR2 AD NM_001035 exon94 c.749802+57T>C 0.528155 0.6746 Uncertain 1_237957146_G->A 1 237957146 237957146 G A snp 1844.77 1/1 99 59 0 59 1.0 intronic rs790902 RYR2 AD NM_001035 exon95 c.751345-20G>A 0.734026 0.9454 0.624191 0.7134 0.9371 Uncertain 1_237957161_A->G 1 237957161 237957161 A G snp 2735.77 1/1 99 92 1 91 0.99 splicing rs790901 RYR2 AD NM_001035 exon95 c.751345-5A>G 0.757588 0.9494 0.651378 0.7399 0.9441 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=criteria_provided\x2c_multiple_submitters\x2c_no_conflicts|criteria_provided\x2c_single_submitter;CLNACC=RCV000036684.2|RCV000127854.1;CLNDSDB=MedGen|MedGen;CLNDSDBID=CN169374|CN221809 Pathogenic 1_237957309_A->C 1 237957309 237957309 A C snp 4086.77 1/1 99 160 0 160 1.0 intronic rs790900 RYR2 AD NM_001035 exon95 c.751476+12A>C 0.750799 0.9494 0.647839 0.7273 0.9444 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_multiple_submitters\x2c_no_conflicts;CLNACC=RCV000036685.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 1_237965035_C->A 1 237965035 237965035 C A snp 229.77 0/1 99 23 15 8 0.35 intronic rs2790346 RYR2 AD NM_001035 exon98 c.759334-120C>A 0.463059 0.6349 Uncertain 1_237965043_A->G 1 237965043 237965043 A G snp 271.77 0/1 99 26 17 9 0.35 intronic rs2790347 RYR2 AD NM_001035 exon98 c.759334-112A>G 0.46226 0.6349 Uncertain 1_237965094_G->T 1 237965094 237965094 G T snp 851.77 0/1 99 61 30 31 0.51 intronic rs2794820 RYR2 AD NM_001035 exon98 c.759334-61G>T 0.46226 0.6349 Uncertain 1_237965131_G->A 1 237965131 237965131 G A snp 964.77 0/1 99 98 52 46 0.47 intronic rs9428384 RYR2 AD NM_001035 exon98 c.759334-24G>A 0.405152 0.6349 0.348680 0.4178 0.6195 Uncertain 1_237965133_-->T 1 237965133 237965133 - T indel 661.73 0/1 99 97 46 51 0.53 intronic rs35563566 RYR2 AD NM_001035 exon98 c.759334-22insT 0.377995 0.6091 0.3303 0.4156 CLINSIG=probable-non-pathogenic,probable-non-pathogenic;CLNDBN=not_specified,not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter,criteria_provided\x2c_single_submitter;CLNACC=RCV000036691.2,RCV000036690.2;CLNDSDB=MedGen,MedGen;CLNDSDBID=CN169374,CN169374 Uncertain 1_237969638_A->G 1 237969638 237969638 A G snp 1340.77 0/1 99 105 52 53 0.5 intronic rs790879 RYR2 AD NM_001035 exon99 c.763762+55A>G 0.28774 0.496 Uncertain 1_238048325_A->G 1 238048325 238048325 A G snp 396.77 1/1 30 11 0 11 1.0 ncRNA_intronic rs2298100 LOC100130331 AU 0.877596 0.7827 Uncertain 1_240070603_T->C 1 240070603 240070603 T C snp 95.77 0/1 99 16 11 5 0.31 intronic rs3738435 CHRM3 AR 0.269369 0.3859 ID=CR067509;DIS=Diabetes, type 2, increased risk, association;TAG=DP;PUB=17130513 DP Uncertain 1_240255471_G->A 1 240255471 240255471 G A snp 1299.77 0/1 99 87 36 51 0.59 exonic FMN2 AR nonsynonymous SNV NM_020066 exon1 c.G62A p.G21D 0.2 T 1 D -1.074 T 0.036 T 0.023 T Pathogenic 1_240421383_G->A 1 240421383 240421383 G A snp 1245.77 1/1 90 38 0 38 1.0 intronic rs10926181 FMN2 AR NM_020066 exon7 c.165923+51G>A 0.768171 0.8403 0.721247 0.6819 0.8356 Uncertain 1_240421437_C->T 1 240421437 240421437 C T snp 303.78 1/1 24 8 0 8 1.0 intronic rs10926182 FMN2 AR NM_020066 exon7 c.165923+105C>T 0.423123 0.5615 Uncertain 1_240492543_G->A 1 240492543 240492543 G A snp 3151.77 1/1 99 93 0 93 1.0 intronic rs6686353 FMN2 AR NM_020066 exon9 c.237058+76G>A 0.623602 0.5 Uncertain 1_240492734_G->A 1 240492734 240492734 G A snp 7374.77 1/1 99 250 0 250 1.0 exonic rs3795677 FMN2 AR nonsynonymous SNV NM_020066 exon10 c.G4403A p.R1468H 0.320887 0.3185 0.287790 0.3027 0.3111 0.9 T 1.000 P -0.994 T 0.472 P 0.258 P Pathogenic 1_240497265_A->C 1 240497265 240497265 A C snp 1361.77 1/1 96 52 0 52 1.0 intronic rs10157874 FMN2 AR NM_020066 exon12 c.241837+19A>C 0.65016 0.5278 0.621403 0.5717 0.5408 Uncertain 1_240497598_T->C 1 240497598 240497598 T C snp 754.77 1/1 57 19 0 19 1.0 intronic rs12122068 FMN2 AR NM_020066 exon13 c.242120+69T>C 0.205272 0.251 Uncertain 1_240497657_C->T 1 240497657 240497657 C T snp 96.28 1/1 9 3 0 3 1.0 intronic rs10926220 FMN2 AR NM_020066 exon13 c.242120+128C>T 0.452276 0.499 Uncertain 1_240556035_T->C 1 240556035 240556035 T C snp 40.77 0/1 33 3 1 2 0.67 intronic rs9730073 FMN2 AR NM_020066 exon15 c.300453+173T>C 0.605032 0.6498 Uncertain 1_240601269_A->G 1 240601269 240601269 A G snp 2807.77 1/1 99 88 0 88 1.0 intronic rs2356386 FMN2 AR NM_020066 exon16 c.345951-91A>G 0.927316 0.9752 Uncertain 1_240655330_G->A 1 240655330 240655330 G A snp 535.77 1/1 42 19 0 19 1.0 ncRNA_intronic rs9287248 MIR1273E AU 0.727436 0.8145 Uncertain 1_240656797_G->A 1 240656797 240656797 G A snp 1077.77 0/1 99 67 28 39 0.58 ncRNA_intronic rs11806449 MIR1273E AU 0.203075 0.3214 0.146205 0.2380 0.3421 Uncertain 1_240656824_C->A 1 240656824 240656824 C A snp 485.77 0/1 99 51 32 19 0.37 ncRNA_intronic rs10926280 MIR1273E AU 0.28774 0.4266 0.261085 0.4311 0.5130 Uncertain 1_240656841_A->T 1 240656841 240656841 A T snp 368.77 0/1 99 23 9 14 0.61 ncRNA_intronic rs45519645 MIR1273E AU 0.255391 0.3462 Uncertain 1_240656852_-->A 1 240656852 240656852 - A indel 218.73 0/1 99 14 5 9 0.64 ncRNA_intronic rs34695275 MIR1273E AU 0.202875 0.3204 Uncertain 1_240975213_T->C 1 240975213 240975213 T C snp 2478.77 0/1 99 217 110 107 0.49 splicing rs2275742 RGS7 AU NM_001282773 exon5 c.11271-4T>C 0.404553 0.4683 0.473547 0.5060 0.4555 Pathogenic 1_240975435_C->T 1 240975435 240975435 C T snp 1132.77 0/1 99 79 39 40 0.51 intronic rs2275744 RGS7 AU NM_001282773 exon5 c.11397+92C>T 0.404353 0.4683 Uncertain 1_240977964_G->T 1 240977964 240977964 G T snp 363.77 0/1 99 29 15 14 0.48 intronic rs12744536 RGS7 AU NM_001282773 exon7 c.14069-51G>T 0.529153 0.4851 0.631057 Uncertain 1_240979803_G->A 1 240979803 240979803 G A snp 182.9 1/1 15 5 0 5 1.0 intronic rs3738068 RGS7 AU NM_001282773 exon8 c.15769+88G>A 0.693291 0.5933 Uncertain 1_241100122_G->T 1 241100122 241100122 G T snp 116.77 0/1 99 8 4 4 0.5 intronic rs261857 RGS7 AU NM_001282775 exon14 c.136060+116G>T 0.347843 0.248 Uncertain 1_241146322_A->G 1 241146322 241146322 A G snp 530.77 0/1 99 58 32 26 0.45 intronic rs7520707 RGS7 AU NM_001282773 exon13 c.182432-56A>G 0.35603 0.2857 0.379939 Uncertain 1_241519098_T->A 1 241519098 241519098 T A snp 2404.77 1/1 99 87 0 87 1.0 UTR5 rs4659599 RGS7 AU 0.948283 0.9921 0.951099 0.9778 0.9965 Uncertain 1_241729614_T->G 1 241729614 241729614 T G snp 34.77 0/1 63 7 5 2 0.29 intronic rs10754731 KMO AU NM_003679 exon9 c.34046-176T>G 0.811302 0.8194 Uncertain 1_241767930_G->A 1 241767930 241767930 G A snp 1077.77 1/1 78 37 0 37 1.0 intronic rs632966 OPN3 AU NM_014322 exon3 c.10152+49G>A 0.907548 0.8333 0.944009 0.9313 0.8096 Uncertain 1_241798631_C->T 1 241798631 241798631 C T snp 2718.77 0/1 99 215 101 114 0.53 exonic rs3737604 CHML AU synonymous SNV NM_001821 exon1 c.G438A p.S146S 0.276558 0.2232 0.318210 0.3240 0.2352 Uncertain 1_241847018_C->T 1 241847018 241847018 C T snp 195.77 0/1 99 24 16 8 0.33 intronic rs10802979 WDR64 AU NM_144625 exon6 c.31217+15C>T 0.691094 0.5923 0.7588 0.5786 Uncertain 1_241850713_T->C 1 241850713 241850713 T C snp 430.77 0/1 99 29 9 20 0.69 intronic rs75208052 WDR64 AU NM_144625 exon7 c.34976-49T>C 0.0930511 0.1567 0.042287 0.0565 0.1518 Uncertain 1_241875326_T->C 1 241875326 241875326 T C snp 343.77 0/1 99 32 19 13 0.41 intronic rs12092919 WDR64 AU NM_144625 exon8 c.59397+143T>C 0.209265 0.0208 Uncertain 1_241886754_T->C 1 241886754 241886754 T C snp 808.77 0/1 99 61 25 36 0.59 intronic rs10926548 WDR64 AU NM_144625 exon9 c.70952+16T>C 0.18131 0.1101 0.168922 0.2055 0.1401 Uncertain 1_241886764_A->G 1 241886764 241886764 A G snp 718.77 0/1 99 50 19 31 0.62 intronic rs10926549 WDR64 AU NM_144625 exon9 c.70952+26A>G 0.18131 0.1101 0.168153 0.2074 0.1422 Uncertain 1_241907691_A->G 1 241907691 241907691 A G snp 1514.77 0/1 99 118 52 66 0.56 splicing rs7418599 WDR64 AU NM_144625 exon12 c.91908-3A>G 0.350439 0.5119 0.289405 0.3743 0.5221 Pathogenic 1_241907817_T->C 1 241907817 241907817 T C snp 2057.77 0/1 99 211 121 90 0.43 exonic rs10802990 WDR64 AU synonymous SNV NM_144625 exon12 c.T1563C p.N521N 0.590855 0.5149 0.608488 0.5354 0.5236 Uncertain 1_241913062_-->T 1 241913062 241913062 - T indel 323.73 0/1 99 23 10 13 0.57 intronic rs11432682 WDR64 AU NM_144625 exon13 c.97238+38insT 0.609026 0.5546 0.640393 0.6262 0.5744 Uncertain 1_241932567_C->G 1 241932567 241932567 C G snp 110.77 0/1 99 8 4 4 0.5 intronic rs56396922 WDR64 AU NM_144625 exon16 c.116919-138C>G 0.478035 0.5595 Uncertain 1_241933876_A->G 1 241933876 241933876 A G snp 386.77 0/1 99 47 28 19 0.4 intronic rs11809239 WDR64 AU NM_144625 exon17 c.118136-46A>G 0.485823 0.5694 0.5878 0.5997 Uncertain 1_241935988_C->- 1 241935988 241935988 C - indel 490.73 0/1 99 21 8 13 0.62 intronic rs35632793 WDR64 AU NM_144625 exon19 c.120307-105delC 0.294529 0.4266 Uncertain 1_241946766_A->C 1 241946766 241946766 A C snp 1519.77 0/1 99 115 52 63 0.55 intronic rs953597 WDR64 AU NM_144625 exon22 c.130897+83A>C 0.509385 0.4137 Uncertain 1_241951034_C->T 1 241951034 241951034 C T snp 284.77 0/1 99 23 13 10 0.43 intronic rs6429312 WDR64 AU NM_144625 exon23 c.135364-116C>T 0.419529 0.4375 Uncertain 1_241951106_A->G 1 241951106 241951106 A G snp 1004.77 0/1 99 92 44 48 0.52 intronic rs6429313 WDR64 AU NM_144625 exon23 c.135364-44A>G 0.419329 0.4325 0.397740 0.3887 0.4199 Uncertain 1_241954006_A->- 1 241954006 241954006 A - indel 306.73 0/1 99 92 23 69 0.75 intronic rs35435449 WDR64 AU NM_144625 exon24 c.138212+8delA 0.499401 0.498 0.4615 0.4606 Uncertain 1_241958401_-->TTGT 1 241958401 241958401 - TTGT indel 282.73 0/1 99 11 6 5 0.45 intronic rs146518112 WDR64 AU NM_144625 exon25 c.142722-107insTTGT 0.294329 0.4325 Uncertain 1_241958409_C->T 1 241958409 241958409 C T snp 165.77 0/1 99 19 13 6 0.32 intronic rs55865277 WDR64 AU NM_144625 exon25 c.142722-99C>T 0.29393 0.4325 Uncertain 1_241964559_C->T 1 241964559 241964559 C T snp 2386.77 0/1 99 207 105 102 0.49 UTR3 rs4658661 WDR64 AU 0.38139 0.4077 0.469014 0.4743 0.4375 Uncertain 1_242015820_A->G 1 242015820 242015820 A G snp 218.84 1/1 18 6 0 6 1.0 intronic rs2526704 EXO1 AU NM_003686 exon3 c.1986+107A>G 0.72524 0.8065 Uncertain 1_242020495_C->T 1 242020495 242020495 C T snp 1065.77 1/1 78 34 0 34 1.0 intronic rs2995544 EXO1 AU NM_003686 exon5 c.6919-151C>T 0.721446 0.8065 Uncertain 1_242030151_A->G 1 242030151 242030151 A G snp 4044.77 1/1 99 149 0 149 1.0 exonic rs735943 EXO1 AU nonsynonymous SNV NM_006027 exon9 c.A1061G p.H354R 0.636981 0.7956 0.567430 0.5930 0.7996 0.62 T 0.000 P -0.990 T 0.0 T 0.001 T Pathogenic 1_242035673_A->G 1 242035673 242035673 A G snp 436.77 0/1 99 26 11 15 0.58 intronic rs4149969 EXO1 AU NM_003686 exon10 c.21853+93A>G 0.205072 0.4306 Uncertain 1_242035722_G->A 1 242035722 242035722 G A snp 176.9 1/1 15 5 0 5 1.0 intronic rs851780 EXO1 AU NM_003686 exon10 c.21853+142G>A 0.692891 0.8056 Uncertain 1_242042545_A->G 1 242042545 242042545 A G snp 3342.77 1/1 99 125 0 125 1.0 exonic rs1776148 EXO1 AU nonsynonymous SNV NM_006027 exon11 c.A2009G p.E670G 0.681909 0.8085 0.655005 0.6573 0.8119 0.39 T 0.0 P -1.000 T 0.0 T 0.0 T Pathogenic 1_242042690_A->G 1 242042690 242042690 A G snp 1100.77 1/1 78 39 0 39 1.0 intronic rs1418760 EXO1 AU NM_003686 exon11 c.28918+45A>G 0.730232 0.749 0.778396 0.7833 0.7621 Uncertain 1_242045275_C->T 1 242045275 242045275 C T snp 1598.77 1/1 99 64 0 64 1.0 exonic rs1635498 EXO1 AU nonsynonymous SNV NM_006027 exon12 c.C2167T p.R723C 0.915335 0.869 0.945197 0.9564 0.8708 0.23 T 0.000 P -0.976 T 0.85 T 0.34 P Pathogenic 1_242048674_C->T 1 242048674 242048674 C T snp 2049.77 1/1 99 80 0 80 1.0 exonic rs9350 EXO1 AU nonsynonymous SNV NM_006027 exon13 c.C2270T p.P757L 0.251597 0.4683 0.167384 0.2036 0.4204 0.03 T 0.040 P -0.995 T 0.827 T 0.389 P ID=CM107549;DIS=Colorectal cancer, reduced risk, association with;TAG=DP;PUB=20854105 DP Pathogenic 1_242052685_C->G 1 242052685 242052685 C G snp 596.77 1/1 45 16 0 16 1.0 intronic rs4150020 EXO1 AU NM_006027 exon14 c.39039-81C>G 0.251997 0.4702 Uncertain 1_242053031_T->- 1 242053031 242053031 T - indel 987.73 1/1 78 30 0 30 1.0 UTR3 rs4150021 EXO1 AU 0.243211 0.4702 Uncertain 1_242383170_-->AC 1 242383170 242383170 - AC indel 964.73 0/1 99 45 22 23 0.51 intronic rs3051891 PLD5 AU NM_001195811 exon6 c.130134-119insAC 0.377596 0.5536 Uncertain 1_242383201_T->G 1 242383201 242383201 T G snp 1090.77 0/1 99 76 31 45 0.59 intronic rs1973498 PLD5 AU NM_001195811 exon6 c.130134-88T>G 0.377796 0.5536 Uncertain 1_242383510_T->C 1 242383510 242383510 T C snp 290.77 0/1 99 33 22 11 0.33 intronic rs7547029 PLD5 AU NM_001195811 exon6 c.130262+93T>C 0.377596 0.5536 Uncertain 1_242428834_T->A 1 242428834 242428834 T A snp 210.77 0/1 99 21 13 8 0.38 intronic rs2053192 PLD5 AU NM_001195811 exon7 c.175595+84T>A 0.327476 0.621 Uncertain 1_242511557_ACAAAG->- 1 242511557 242511562 ACAAAG - indel 5860.73 1/1 99 89 0 89 1.0 intronic rs112478548 PLD5 AU NM_001195811 exon9 c.258389+13_258389+18delACAAAG 0.699081 0.6915 0.7614 0.6853 Uncertain 1_243328208_G->A 1 243328208 243328208 G A snp 189.77 0/1 99 250 171 79 0.32 exonic rs2631166 CEP170 AU synonymous SNV NM_001042404 exon12 c.C2760T p.P920P 0.0014 0.0003 0.2 T 1 D -1.018 T Likely benign 1_243328887_G->T 1 243328887 243328887 G T snp 69.77 0/1 98 249 214 35 0.14 exonic rs2728433 CEP170 AU stopgain NM_001042404 exon12 c.C2081A p.S694X 0.1762 0.2154 1 N -0.993 T Pathogenic 1_243329049_G->A 1 243329049 243329049 G A snp 1169.77 0/1 99 250 172 78 0.31 exonic rs3766664 CEP170 AU nonsynonymous SNV NM_001042404 exon12 c.C1919T p.T640I 0.3293 0.3836 0.13 T 0.973 N -1.003 T 0.441 T 0.2 T Pathogenic 1_243329075_T->C 1 243329075 243329075 T C snp 578.77 0/1 99 249 188 61 0.24 exonic rs61833876 CEP170 AU synonymous SNV NM_001042404 exon12 c.A1893G p.K631K 0.2923 0.3610 0.52 T 1 D -1.091 T Likely benign 1_243332885_AG->- 1 243332885 243332886 AG - indel 487.73 0/1 99 39 26 13 0.33 intronic rs140816120 CEP170 AU NM_014812 exon9 c.43179-44_43179-43delAG 0.318291 0.3065 0.310580 0.3887 0.3266 Uncertain 1_243335941_A->- 1 243335941 243335941 A - indel 339.73 0/1 99 28 13 15 0.54 intronic rs74889777 CEP170 AU NM_014812 exon10 c.46248-57delA 0.345647 0.4395 Uncertain 1_243354791_C->T 1 243354791 243354791 C T snp 154.84 1/1 18 39 0 39 1.0 exonic rs144272877 CEP170 AU nonsynonymous SNV NM_001042404 exon8 c.G637A p.G213S 0.847444 0.9335 0.0354 0.0559 1 T 1.0 P -0.957 T 0.0 T 0.0 T Pathogenic 1_243362331_C->T 1 243362331 243362331 C T snp 3137.77 1/1 99 111 0 111 1.0 intronic rs2789172 CEP170 AU NM_014812 exon14 c.72611-30C>T 0.881989 0.9425 0.7834 0.8989 Uncertain 1_243388370_A->T 1 243388370 243388370 A T snp 1574.77 1/1 99 48 0 48 1.0 intronic rs10926973 CEP170 AU NM_014812 exon19 c.98727-107A>T 0.425319 0.2887 Uncertain 1_243433654_A->G 1 243433654 243433654 A G snp 951.77 1/1 69 31 0 31 1.0 intronic rs2275154 SDCCAG8 AR,AU NM_006642 exon2 c.14084+95A>G 0.286941 0.1944 Uncertain 1_243493907_A->T 1 243493907 243493907 A T snp 2976.77 1/1 99 120 0 120 1.0 exonic rs2275155 SDCCAG8 AR,AU nonsynonymous SNV NM_006642 exon10 c.A1134T p.E378D 0.271366 0.1935 0.268184 0.2976 0.2000 0.24 T 0.250 P -1.017 T 0.939 T 0.536 D Pathogenic 1_243709071_G->A 1 243709071 243709071 G A snp 99.28 1/1 9 3 0 3 1.0 intronic rs1473466 AKT3 AD NM_001206729 exon3 c.45855+172G>A 0.972244 1 Uncertain 1_243859036_G->A 1 243859036 243859036 G A snp 487.77 0/1 99 44 22 22 0.5 intronic rs186964075 AKT3 AD NM_001206729 exon12 c.195974+18G>A 0.000399361 0.002 7.19e-05 0.0005 Uncertain 1_244528127_T->C 1 244528127 244528127 T C snp 2423.77 1/1 99 85 0 85 1.0 intronic rs9782996 C1orf100 AU NM_001276349 exon2 c.56+69T>C 0.790136 0.9117 0.719667 Uncertain 1_244542085_G->A 1 244542085 244542085 G A snp 162.78 0/1 24 6 1 5 0.83 intronic rs78482860 C1orf100 AU NM_001276348 exon4 c.13939+144G>A 0.0824681 0.1508 Uncertain 1_244579519_T->C 1 244579519 244579519 T C snp 426.77 1/1 33 13 0 13 1.0 intronic rs3123696 ADSS AU NM_001126 exon3 c.6493+139T>C 0.322484 0.6329 Uncertain 1_244581156_C->A 1 244581156 244581156 C A snp 297.77 0/1 99 38 22 16 0.42 intronic rs6661148 ADSS AU NM_001126 exon4 c.8167+102C>A 0.129992 0.3988 Uncertain 1_244587729_A->C 1 244587729 244587729 A C snp 381.77 0/1 99 41 22 19 0.46 intronic rs6679230 ADSS AU NM_001126 exon9 c.14802+40A>C 0.131589 0.4058 0.053744 0.0687 0.4385 Uncertain 1_244601152_C->T 1 244601152 244601152 C T snp 714.77 0/1 99 56 28 28 0.5 intronic rs3127465 ADSS AU NM_001126 exon12 c.28183+82C>T 0.821685 0.7718 Uncertain 1_244624635_G->C 1 244624635 244624635 G C snp 238.77 0/1 99 19 9 10 0.53 upstream rs3006006 C1orf101 AU 0.653554 0.7282 0.6840 0.7955 Uncertain 1_244624887_T->C 1 244624887 244624887 T C snp 473.77 0/1 99 50 29 21 0.42 intronic rs3124058 C1orf101 AU NM_173807 exon1 c.65+91T>C 0.633387 0.7361 Uncertain 1_244723920_C->G 1 244723920 244723920 C G snp 626.77 0/1 99 32 13 19 0.59 intronic rs7522899 C1orf101 AU NM_173807 exon10 c.99238-49C>G 0.273562 0.376 0.177995 0.1658 0.4039 Uncertain 1_244724092_G->A 1 244724092 244724092 G A snp 2688.77 0/1 99 250 142 108 0.43 exonic rs7544794 C1orf101 AU synonymous SNV NM_001242340 exon7 c.G699A p.S233S 0.273163 0.376 0.187913 0.1655 0.4057 Uncertain 1_244735858_A->G 1 244735858 244735858 A G snp 1477.77 0/1 99 149 88 61 0.41 exonic rs10927267 C1orf101 AU synonymous SNV NM_001242340 exon8 c.A1281G p.T427T 0.271965 0.373 0.188990 0.1658 0.4052 Uncertain 1_244747051_G->C 1 244747051 244747051 G C snp 149.77 0/1 99 15 9 6 0.4 intronic rs6429486 C1orf101 AU NM_173807 exon13 c.122434-114G>C 0.259585 0.372 Uncertain 1_244747150_G->A 1 244747150 244747150 G A snp 1617.77 0/1 99 119 49 70 0.59 intronic rs6429487 C1orf101 AU NM_173807 exon13 c.122434-15G>A 0.25639 0.372 0.169230 0.1608 0.4006 Uncertain 1_244747293_C->T 1 244747293 244747293 C T snp 1304.77 0/1 99 86 31 55 0.64 intronic rs6429488 C1orf101 AU NM_173807 exon13 c.122510+52C>T 0.261781 0.372 0.162541 0.1595 0.3990 Uncertain 1_244747294_G->A 1 244747294 244747294 G A snp 1308.77 0/1 99 84 29 55 0.65 intronic rs6429489 C1orf101 AU NM_173807 exon13 c.122510+53G>A 0.271965 0.372 0.149584 Uncertain 1_244747339_G->A 1 244747339 244747339 G A snp 667.77 0/1 99 37 11 26 0.7 intronic rs6429490 C1orf101 AU NM_173807 exon13 c.122510+98G>A 0.259984 0.372 Uncertain 1_244754961_C->A 1 244754961 244754961 C A snp 446.77 0/1 99 51 32 19 0.37 intronic rs41269387 C1orf101 AU NM_173807 exon15 c.130251-21C>A 0.159744 0.371 0.073963 0.1428 0.4021 Uncertain 1_244773784_T->C 1 244773784 244773784 T C snp 817.77 1/1 60 26 0 26 1.0 intronic rs6698173 C1orf101 AU NM_173807 exon19 c.148897+156T>C 0.747804 0.8413 0.8100 0.8175 Uncertain 1_244773803_T->C 1 244773803 244773803 T C snp 225.77 0/1 99 16 8 8 0.5 intronic rs6698180 C1orf101 AU NM_173807 exon19 c.148897+175T>C 0.625 0.5208 0.6861 0.4667 Uncertain 1_245027349_C->T 1 245027349 245027349 C T snp 1809.77 0/1 99 156 81 75 0.48 exonic rs6675421 HNRNPU AU synonymous SNV NM_031844 exon1 c.G261A p.E87E 0.285144 0.1706 0.258886 0.2801 0.1980 Uncertain 1_245133489_T->G 1 245133489 245133489 T G snp 963.77 1/1 69 36 0 36 1.0 ncRNA_intronic rs7545078 LOC101928068 AU 0.48762 0.7282 0.6193 0.7550 0 D 0.000 P -0.953 T 0.127 T 0.009 T Uncertain 1_245133539_A->G 1 245133539 245133539 A G snp 1310.77 1/1 96 46 0 46 1.0 ncRNA_intronic rs7542813 LOC101928068 AU 1 1 0.9994 1 0.01 T 0.000 P -0.996 T 0.0 T 0.0 T Uncertain 1_245133550_GC->- 1 245133550 245133551 GC - indel 1983.73 1/1 99 46 0 46 1.0 ncRNA_intronic rs10536649 LOC101928068 AU 0.482029 0.7282 0.6006 0.7808 Uncertain 1_245133623_-->CCTCC 1 245133623 245133623 - CCTCC indel 5251.73 1/1 99 73 0 73 1.0 ncRNA_intronic rs145835471 LOC101928068 AU 0.497204 0.7272 0.6146 0.7772 Uncertain 1_245133662_G->C 1 245133662 245133662 G C snp 777.77 0/1 99 81 46 35 0.43 ncRNA_intronic rs61844237 LOC101928068 AU 0.371206 0.5903 0.5119 0.6654 0.01 T 0.011 P -0.915 T 0.015 T 0.004 T Uncertain 1_245179012_A->- 1 245179012 245179012 A - indel 395.73 0/1 99 43 13 30 0.7 intronic rs201488109 EFCAB2 AU NM_032328 exon3 c.46823-1531delA 0.735823 0.8383 0.4472 0.4706 Uncertain 1_245179171_C->T 1 245179171 245179171 C T snp 1341.77 0/1 99 136 73 63 0.46 intronic rs1196365 EFCAB2 AU NM_032328 exon3 c.46823-1372C>T 0.606629 0.7282 Uncertain 1_245179188_G->T 1 245179188 245179188 G T snp 1140.77 0/1 99 102 51 51 0.5 intronic rs1196366 EFCAB2 AU NM_032328 exon3 c.46823-1355G>T 0.789936 0.874 Uncertain 1_245222634_C->G 1 245222634 245222634 C G snp 1215.77 1/1 90 38 0 38 1.0 intronic rs694793 EFCAB2 AU NM_032328 exon4 c.88967-53C>G 0.885583 0.8532 0.943252 Uncertain 1_245222839_G->T 1 245222839 245222839 G T snp 2244.77 1/1 99 87 0 87 1.0 intronic rs579269 EFCAB2 AU NM_032328 exon4 c.89040+79G>T 0.97524 1 Uncertain 1_245245378_T->C 1 245245378 245245378 T C snp 1115.77 0/1 99 105 54 51 0.49 intronic rs10927386 EFCAB2 AU NM_032328 exon5 c.111664-6T>C 0.301717 0.1935 0.358604 0.3477 0.1711 Uncertain 1_245245402_C->T 1 245245402 245245402 C T snp 1084.77 0/1 99 97 49 48 0.49 exonic rs10927387 EFCAB2 AU synonymous SNV NM_001143943 exon4 c.C201T p.P67P 0.289337 0.1935 0.346379 0.3438 0.1706 0 D 1.000 P -1.012 T Likely benign 1_245318688_C->T 1 245318688 245318688 C T snp 2745.77 0/1 99 247 129 118 0.48 UTR5 rs12409851 KIF26B AU 0.405551 0.5823 0.342565 0.4520 0.6003 Uncertain 1_245703819_T->C 1 245703819 245703819 T C snp 445.77 0/1 99 49 29 20 0.41 intronic rs7551348 KIF26B AU NM_018012 exon5 c.385342-249T>C 0.465256 0.5099 Uncertain 1_245703990_G->T 1 245703990 245703990 G T snp 5695.77 1/1 99 211 0 211 1.0 intronic rs9919234 KIF26B AU NM_018012 exon5 c.385342-78G>T 0.6252 0.6448 0.5997 0.6613 Uncertain 1_245765719_C->G 1 245765719 245765719 C G snp 176.9 1/1 15 6 0 6 1.0 intronic rs1771526 KIF26B AU NM_018012 exon6 c.447152-159C>G 0.800719 0.9405 Uncertain 1_245765800_T->A 1 245765800 245765800 T A snp 506.77 0/1 99 43 24 19 0.44 intronic rs7541927 KIF26B AU NM_018012 exon6 c.447152-78T>A 0.326078 0.4474 Uncertain 1_245847748_C->T 1 245847748 245847748 C T snp 1169.77 0/1 99 85 38 47 0.55 intronic rs12040925 KIF26B AU NM_018012 exon11 c.528971+51C>T 0.0882588 0.249 0.018761 Uncertain 1_245851304_A->G 1 245851304 245851304 A G snp 5090.77 1/1 99 181 0 181 1.0 exonic rs6701084 KIF26B AU synonymous SNV NM_018012 exon12 c.A5019G p.T1673T 0.989816 1 0.984823 0.9843 0.9995 Uncertain 1_245861571_C->T 1 245861571 245861571 C T snp 1601.77 0/1 99 114 52 62 0.54 exonic rs3205034 KIF26B AU synonymous SNV NM_018012 exon13 c.C5988T p.D1996D 0.400359 0.378 0.526423 0.4942 0.3931 Uncertain 1_245912840_C->T 1 245912840 245912840 C T snp 494.77 0/1 99 64 41 23 0.36 UTR3 rs8025 SMYD3 AU 0.348043 0.4683 0.258727 0.2950 0.4413 Uncertain 1_246027034_G->C 1 246027034 246027034 G C snp 2260.77 1/1 99 71 0 71 1.0 intronic rs2153404 SMYD3 AU NM_001167740 exon4 c.114236-66G>C 0.990615 1 Uncertain 1_246078824_C->T 1 246078824 246078824 C T snp 751.77 0/1 99 84 51 33 0.39 intronic rs12065652 SMYD3 AU NM_001167740 exon5 c.165967-7C>T 0.0213658 0.0099 0.022067 0.0085 0.0060 Uncertain 1_246078968_G->A 1 246078968 246078968 G A snp 916.77 0/1 99 88 50 38 0.43 intronic rs41305945 SMYD3 AU NM_001167740 exon5 c.166078+26G>A 0.111821 0.119 0.057896 0.0585 0.1188 Uncertain 1_246079000_A->G 1 246079000 246079000 A G snp 1084.77 0/1 99 67 22 45 0.67 intronic rs10924386 SMYD3 AU NM_001167740 exon5 c.166078+58A>G 0.0808706 0.0099 Uncertain 1_246091457_T->C 1 246091457 246091457 T C snp 2228.77 1/1 99 80 0 80 1.0 intronic rs6669768 SMYD3 AU NM_001167740 exon6 c.178471+122T>C 0.996605 1 Uncertain 1_246091515_C->T 1 246091515 246091515 C T snp 319.77 0/1 99 24 14 10 0.42 intronic rs2275318 SMYD3 AU NM_001167740 exon6 c.178471+180C>T 0.666134 0.4722 Uncertain 1_246091531_T->C 1 246091531 246091531 T C snp 687.77 1/1 51 18 0 18 1.0 intronic rs6669866 SMYD3 AU NM_001167740 exon6 c.178471+196T>C 0.988419 1 Uncertain 1_246093466_A->- 1 246093466 246093466 A - indel 731.73 0/1 99 108 48 60 0.56 intronic rs11295264 SMYD3 AU NM_001167740 exon7 c.180375+227delA Uncertain 1_246093644_T->C 1 246093644 246093644 T C snp 38.77 0/1 33 4 2 2 0.5 intronic rs3738057 SMYD3 AU NM_001167740 exon7 c.180375+405T>C 0.61222 0.4683 Uncertain 1_246110573_A->G 1 246110573 246110573 A G snp 1501.77 0/1 99 143 84 59 0.41 intronic rs10802300 SMYD3 AU NM_001167740 exon7 c.180375+17334A>G 0.507788 0.4663 Uncertain 1_246490438_T->C 1 246490438 246490438 T C snp 3370.77 1/1 99 118 1 117 0.99 intronic rs3737245 SMYD3 AU NM_001167740 exon8 c.577638-64T>C 0.816294 0.6865 Uncertain 1_246490442_A->G 1 246490442 246490442 A G snp 3599.77 1/1 99 127 1 126 0.99 intronic rs3737246 SMYD3 AU NM_001167740 exon8 c.577638-60A>G 0.816294 0.6865 Uncertain 1_246670281_G->C 1 246670281 246670281 G C snp 1595.77 1/1 99 50 0 50 1.0 intergenic rs6671418 SMYD3 AU 1 1 Uncertain 1_246670299_CT->- 1 246670299 246670300 CT - indel 1227.73 0/1 99 75 37 38 0.51 intergenic rs150603688 SMYD3 AU Uncertain 1_246670333_A->G 1 246670333 246670333 A G snp 2800.77 1/1 99 110 0 110 1.0 intergenic rs6426303 SMYD3 AU 0.983427 1 0.9839 1 Uncertain 1_246670481_C->G 1 246670481 246670481 C G snp 1735.77 0/1 99 174 94 80 0.46 intergenic rs7520453 SMYD3 AU 0.748602 0.9028 0.776610 0.8099 0.8997 0.5 T 0.000 P -1.047 T 0.0 T 0.0 T Uncertain 1_246708165_C->T 1 246708165 246708165 C T snp 90.28 1/1 9 3 0 3 1.0 intronic rs7527607 TFB2M AU NM_022366 exon2 c.3651+182C>T 0.859225 0.997 Uncertain 1_246711789_T->A 1 246711789 246711789 T A snp 590.77 1/1 45 19 0 19 1.0 intronic rs3124131 TFB2M AU NM_022366 exon3 c.7514-57T>A 0.592053 0.622 0.528909 Uncertain 1_246712033_A->G 1 246712033 246712033 A G snp 855.77 1/1 63 24 0 24 1.0 intronic rs1890160 TFB2M AU NM_022366 exon3 c.7577+124A>G 1 1 Uncertain 1_246720174_A->G 1 246720174 246720174 A G snp 182.9 1/1 15 5 0 5 1.0 intronic rs3120710 TFB2M AU NM_022366 exon5 c.15691+151A>G 0.992013 1 Uncertain 1_246720798_G->A 1 246720798 246720798 G A snp 4026.77 1/1 99 156 1 155 0.99 exonic rs3124071 TFB2M AU synonymous SNV NM_022366 exon3 c.C441T p.I147I 1 1 0.999923 1.0000 1 Uncertain 1_246727558_G->T 1 246727558 246727558 G T snp 779.77 1/1 57 27 0 27 1.0 intronic rs3120713 TFB2M AU NM_022366 exon7 c.23315-89G>T 0.992212 1 Uncertain 1_246754778_-->A 1 246754778 246754778 - A indel 187.8 1/1 18 6 0 6 1.0 intronic rs35302997 CNST AU 0.460663 0.6855 Uncertain 1_246755124_T->C 1 246755124 246755124 T C snp 2472.77 1/1 99 92 0 92 1.0 exonic rs6702823 CNST AU nonsynonymous SNV NM_001139459 exon2 c.T260C p.L87S 0.883387 0.8919 0.884592 0.9088 0.9031 1 T 0.0 P -0.990 T 0.0 T 0.001 T Pathogenic 1_246797710_G->T 1 246797710 246797710 G T snp 272.8 1/1 21 10 0 10 1.0 intronic rs35650980 CNST AU NM_152609 exon6 c.42910-64G>T 0.40615 0.6944 Uncertain 1_246797714_-->T 1 246797714 246797714 - T indel 280.74 1/1 30 10 0 10 1.0 intronic rs11396823 CNST AU NM_152609 exon6 c.42910-60insT 0.396965 0.6944 Uncertain 1_246797974_T->A 1 246797974 246797974 T A snp 490.77 1/1 36 17 0 17 1.0 intronic rs6680646 CNST AU NM_152609 exon6 c.43025+85T>A 0.40615 0.6944 Uncertain 1_246804824_T->C 1 246804824 246804824 T C snp 555.77 1/1 42 17 0 17 1.0 intronic rs12401692 CNST AU NM_152609 exon7 c.50186-226T>C 0.397963 0.6964 Uncertain 1_246805435_G->T 1 246805435 246805435 G T snp 384.77 1/1 30 12 0 12 1.0 intronic rs12748305 CNST AU NM_152609 exon8 c.50475+96G>T 0.617812 0.7024 Uncertain 1_246823857_G->A 1 246823857 246823857 G A snp 38.77 0/1 31 3 1 2 0.67 intronic rs7534740 CNST AU NM_152609 exon10 c.68772+221G>A 0.288738 0.3512 Uncertain 1_246890158_T->C 1 246890158 246890158 T C snp 1784.77 0/1 99 136 61 75 0.55 intronic rs34677128 SCCPDH AU NM_016002 exon2 c.2469-35T>C 0.205072 0.1786 0.170075 0.1431 0.1807 Uncertain 1_246903654_G->C 1 246903654 246903654 G C snp 513.77 0/1 99 33 13 20 0.61 intronic rs3007322 SCCPDH AU NM_016002 exon4 c.15879+51G>C 0.261581 0.2312 0.288462 0.3500 0.2433 Uncertain 1_246922390_A->G 1 246922390 246922390 A G snp 2556.77 0/1 99 249 133 116 0.47 exonic rs1127098 SCCPDH AU synonymous SNV NM_016002 exon7 c.A750G p.G250G 0.0960463 0.1736 0.049669 0.0679 0.1622 Uncertain 1_246929183_G->C 1 246929183 246929183 G C snp 186.77 0/1 99 10 4 6 0.6 intronic rs4926450 SCCPDH AU NM_016002 exon11 c.41635-176G>C 0.163139 0.1746 Uncertain 1_246929483_A->G 1 246929483 246929483 A G snp 1065.77 0/1 99 74 32 42 0.57 intronic rs12144408 SCCPDH AU NM_016002 exon11 c.41717+42A>G 0.297724 0.2302 0.338690 0.3845 0.2444 Uncertain 1_246939610_-->TATT 1 246939610 246939610 - TATT indel 8398.73 1/1 99 138 0 138 1.0 intergenic rs373879896 SCCPDH AU 0.47524 0.4038 Uncertain 1_246939856_G->A 1 246939856 246939856 G A snp 2315.77 1/1 99 82 1 81 0.99 intergenic rs3795465 SCCPDH AU 0.474241 0.3958 0.4500 0.4102 0.14 T -1.081 T Uncertain 1_246939943_T->C 1 246939943 246939943 T C snp 1257.77 0/1 99 105 50 55 0.52 intergenic rs6685364 SCCPDH AU 0.273962 0.2282 0.3912 0.2169 0.34 T -0.927 T Uncertain 1_246940179_G->A 1 246940179 246940179 G A snp 796.77 0/1 99 83 51 32 0.39 intergenic rs3795464 SCCPDH AU 0.254193 0.2282 Uncertain 1_246940182_C->A 1 246940182 246940182 C A snp 816.77 0/1 99 86 52 34 0.4 intergenic rs3795463 SCCPDH AU 0.292133 0.2292 Uncertain 1_246940442_T->C 1 246940442 246940442 T C snp 973.77 1/1 72 28 0 28 1.0 intergenic rs3795462 SCCPDH AU 0.475439 0.4038 Uncertain 1_246940826_G->C 1 246940826 246940826 G C snp 80.77 0/1 30 4 1 3 0.75 intergenic rs4926454 SCCPDH AU 0.288938 0.2292 Uncertain 1_246942107_G->A 1 246942107 246942107 G A snp 1052.77 0/1 99 84 44 40 0.48 intergenic rs4926443 SCCPDH AU 0.100839 0.1746 0.0567 0.2179 Uncertain 1_246942171_G->A 1 246942171 246942171 G A snp 1741.77 0/1 99 171 94 77 0.45 intergenic rs4926444 SCCPDH AU 0.176118 0.1746 0.0891 0.2133 Uncertain 1_247006160_G->T 1 247006160 247006160 G T snp 869.77 0/1 99 61 26 35 0.57 intronic rs5021094 AHCTF1 AU NM_015446 exon2 c.1971+82G>T 0.692093 0.5923 Uncertain 1_247025531_C->T 1 247025531 247025531 C T snp 678.77 0/1 99 43 18 25 0.58 intronic rs55727006 AHCTF1 AU NM_015446 exon9 c.21348+76C>T 0.226438 0.3998 Uncertain 1_247031237_C->G 1 247031237 247031237 C G snp 65.77 0/1 94 12 9 3 0.25 intronic rs2800222 AHCTF1 AU NM_015446 exon12 c.27006+124C>G 0.68111 0.5873 Uncertain 1_247048834_T->C 1 247048834 247048834 T C snp 109.77 0/1 99 9 5 4 0.44 exonic rs2642990 AHCTF1 AU nonsynonymous SNV NM_015446 exon21 c.A2648G p.N883S 0.681709 0.622 0.630268 0.5662 0.5986 1 T 0.0 P -0.992 T 0.0 T 0.001 T Pathogenic 1_247054530_T->C 1 247054530 247054530 T C snp 43.77 0/1 72 5 3 2 0.4 intronic rs1472275 AHCTF1 AU NM_015446 exon21 c.50255+168T>C 0.592053 0.5397 Uncertain 1_247109014_G->C 1 247109014 247109014 G C snp 97.77 0/1 99 18 12 6 0.33 ncRNA_exonic rs2642982 ZNF670-ZNF695 AU 0.499002 0.5546 Uncertain 1_247109168_G->A 1 247109168 247109168 G A snp 1428.77 0/1 99 152 91 61 0.4 ncRNA_intronic rs6426191 ZNF670-ZNF695 AU 0.323682 0.3284 0.3125 0.2895 Uncertain 1_247109267_A->C 1 247109267 247109267 A C snp 1309.77 0/1 99 135 78 57 0.42 ncRNA_intronic rs2642983 ZNF670-ZNF695 AU 0.499201 0.5556 Uncertain 1_247129945_A->G 1 247129945 247129945 A G snp 188.77 0/1 99 10 4 6 0.6 ncRNA_intronic rs1779985 ZNF670-ZNF695 AU 0.669728 0.5417 Uncertain 1_247150740_T->C 1 247150740 247150740 T C snp 1965.77 1/1 99 67 0 67 1.0 exonic rs3749427 ZNF695 AU synonymous SNV NM_020394 exon4 c.A1077G p.K359K 0.588858 0.9722 0.511295 0.6538 0.9821 Uncertain 1_247151557_A->G 1 247151557 247151557 A G snp 3366.77 1/1 99 117 0 117 1.0 exonic rs2642992 ZNF695 AU nonsynonymous SNV NM_001204221 exon4 c.T260C p.V87A 0.625599 0.9712 0.548721 0.6678 0.9819 0.76 T 0.0 P -1.052 T 0.0 T 0.0 T Pathogenic 1_247162658_C->T 1 247162658 247162658 C T snp 6804.77 1/1 99 245 0 245 1.0 exonic rs2642973 ZNF695 AU nonsynonymous SNV NM_001204221 exon3 c.G251A p.R84K 0.83107 0.9742 0.829752 0.8270 0.9822 1 T 0.0 P -0.924 T 0.0 T 0.002 T Pathogenic 1_247163187_T->C 1 247163187 247163187 T C snp 829.77 1/1 63 22 0 22 1.0 ncRNA_intronic rs2818870 ZNF670-ZNF695 AU 0.819888 0.9742 0.817820 0.8253 0.9826 Uncertain 1_247365430_A->G 1 247365430 247365430 A G snp 1688.77 0/1 99 135 66 69 0.51 upstream rs10754539 MIR3916 AU 0.523962 0.4206 Uncertain 1_247365452_C->T 1 247365452 247365452 C T snp 1151.77 0/1 99 109 54 55 0.5 upstream rs139194021 MIR3916 AU 0.00439297 0.0218 Uncertain 1_247419509_T->C 1 247419509 247419509 T C snp 7331.77 1/1 99 250 0 250 1.0 exonic rs1778540 VN1R5 AU unknown 0.781949 0.8353 0.812796 0.8598 0.8479 Uncertain 1_247419664_C->T 1 247419664 247419664 C T snp 7395.77 1/1 99 245 0 245 1.0 exonic rs1778541 VN1R5 AU unknown 0.771965 0.8353 0.803028 0.8576 0.8483 Uncertain 1_247485932_A->G 1 247485932 247485932 A G snp 830.77 1/1 60 31 0 31 1.0 intronic rs10924984 ZNF496 AU NM_032752 exon5 c.22635-523A>G 0.901158 0.997 Uncertain 1_247486213_G->A 1 247486213 247486213 G A snp 403.77 0/1 99 33 15 18 0.55 intronic rs41268345 ZNF496 AU NM_032752 exon5 c.22635-242G>A 0.233626 0.0635 Uncertain 1_247486421_G->C 1 247486421 247486421 G C snp 182.77 0/1 99 16 9 7 0.44 intronic rs6692645 ZNF496 AU NM_032752 exon5 c.22635-34G>C 0.502995 0.4802 0.556589 0.5695 0.4680 Uncertain 1_247486678_T->C 1 247486678 247486678 T C snp 297.77 0/1 99 25 11 14 0.56 intronic rs7540329 ZNF496 AU NM_032752 exon5 c.22712+146T>C 0.395567 0.5169 Uncertain 1_247582462_ATA->- 1 247582462 247582464 ATA - indel 305.77 1/1 21 9 0 9 1.0 intronic rs368835809 NLRP3 AU,AD NM_001243133 exon1 c.277+83_277+85delATA Uncertain 1_247587477_G->A 1 247587477 247587477 G A snp 7677.77 1/1 99 250 1 249 1.0 exonic rs3806268 NLRP3 AU,AD synonymous SNV NM_004895 exon3 c.G732A p.A244A 0.38738 0.5437 0.405966 0.4996 0.5386 CLINSIG=non-pathogenic;CLNDBN=not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000127218.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Uncertain 1_247587531_A->G 1 247587531 247587531 A G snp 7433.77 1/1 99 250 0 250 1.0 exonic rs4925543 NLRP3 AU,AD synonymous SNV NM_004895 exon3 c.A786G p.R262R 0.919928 0.998 0.918807 0.9426 0.9986 CLINSIG=non-pathogenic;CLNDBN=not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000127219.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Uncertain 1_247597281_A->G 1 247597281 247597281 A G snp 48.74 1/1 6 2 0 2 1.0 intronic rs12117378 NLRP3 AU,AD NM_001243133 exon5 c.15302-123A>G Uncertain 1_247597297_T->C 1 247597297 247597297 T C snp 54.74 1/1 6 2 0 2 1.0 intronic rs12143631 NLRP3 AU,AD NM_001243133 exon5 c.15302-107T>C Uncertain 1_247597302_A->G 1 247597302 247597302 A G snp 50.74 1/1 6 2 0 2 1.0 intronic rs80316563 NLRP3 AU,AD NM_001243133 exon5 c.15302-102A>G Uncertain 1_247597306_C->T 1 247597306 247597306 C T snp 55.74 1/1 6 2 0 2 1.0 intronic rs10925020 NLRP3 AU,AD NM_001243133 exon5 c.15302-98C>T Uncertain 1_247597314_C->T 1 247597314 247597314 C T snp 46.74 1/1 6 2 0 2 1.0 intronic rs55687367 NLRP3 AU,AD NM_001243133 exon5 c.15302-90C>T Uncertain 1_247597318_A->G 1 247597318 247597318 A G snp 55.74 1/1 6 2 0 2 1.0 intronic rs74997528 NLRP3 AU,AD NM_001243133 exon5 c.15302-86A>G Uncertain 1_247597323_G->A 1 247597323 247597323 G A snp 50.74 1/1 6 2 0 2 1.0 intronic rs10925021 NLRP3 AU,AD NM_001243133 exon5 c.15302-81G>A Uncertain 1_247597329_C->T 1 247597329 247597329 C T snp 54.74 1/1 6 2 0 2 1.0 intronic rs12124866 NLRP3 AU,AD NM_001243133 exon5 c.15302-75C>T 0.917732 0.998 Uncertain 1_247597334_T->G 1 247597334 247597334 T G snp 54.74 1/1 6 2 0 2 1.0 intronic rs75201011 NLRP3 AU,AD NM_001243133 exon5 c.15302-70T>G Uncertain 1_247597339_C->T 1 247597339 247597339 C T snp 55.74 1/1 6 2 0 2 1.0 intronic rs77719569 NLRP3 AU,AD NM_001243133 exon5 c.15302-65C>T Uncertain 1_247597344_G->A 1 247597344 247597344 G A snp 55.74 1/1 6 2 0 2 1.0 intronic rs61841186 NLRP3 AU,AD NM_001243133 exon5 c.15302-60G>A Uncertain 1_247597348_T->C 1 247597348 247597348 T C snp 55.74 1/1 6 2 0 2 1.0 intronic rs80093553 NLRP3 AU,AD NM_001243133 exon5 c.15302-56T>C 0.014377 Uncertain 1_247597349_G->A 1 247597349 247597349 G A snp 77.28 1/1 9 3 0 3 1.0 intronic rs75241539 NLRP3 AU,AD NM_001243133 exon5 c.15302-55G>A Uncertain 1_247597365_G->A 1 247597365 247597365 G A snp 1900.77 1/1 99 54 0 54 1.0 intronic rs10925022 NLRP3 AU,AD NM_001243133 exon5 c.15302-39G>A 0.788738 0.8492 0.907427 Uncertain 1_247597657_G->- 1 247597657 247597657 G - indel 2048.73 0/1 99 137 58 79 0.58 intronic rs3835304 NLRP3 AU,AD NM_001243133 exon5 c.15473+82delG 0.476238 0.5248 Uncertain 1_247599232_G->A 1 247599232 247599232 G A snp 525.77 1/1 42 14 0 14 1.0 intronic rs10754557 NLRP3 AU,AD NM_001243133 exon6 c.17169-39G>A 0.484026 0.6617 0.496848 0.5860 0.6745 Uncertain 1_247614617_C->T 1 247614617 247614617 C T snp 2135.77 0/1 99 192 96 96 0.5 exonic rs4925663 OR2B11 AU nonsynonymous SNV NM_001004492 exon1 c.G668A p.G223D 0.399161 0.503 0.337537 0.4013 0.5076 0 D 0.000 P -1.097 T 0.351 T 0.121 T ID=CM141879;DIS=Altered receptor function;TAG=FP;PUB=24316890 FP Pathogenic 1_247614693_C->T 1 247614693 247614693 C T snp 5944.77 1/1 99 207 0 207 1.0 exonic rs6695302 OR2B11 AU nonsynonymous SNV NM_001004492 exon1 c.G592A p.V198M 0.895567 1 0.896817 0.9695 1 0.24 T 0.0 P -0.923 T 0.007 T 0.009 T ID=CM141876;DIS=Altered receptor function;TAG=FP;PUB=24316890 FP Pathogenic 1_247614896_A->C 1 247614896 247614896 A C snp 2428.77 0/1 99 208 112 96 0.46 exonic rs11583410 OR2B11 AU nonsynonymous SNV NM_001004492 exon1 c.T389G p.I130S 0.369609 0.4474 0.361602 0.4321 0.4556 0 D 0.990 P -0.959 T 0.998 D 0.905 D ID=CM141880;DIS=Altered receptor function;TAG=FP;PUB=24316890 FP Pathogenic 1_247615252_G->A 1 247615252 247615252 G A snp 2403.77 0/1 99 228 125 103 0.45 exonic rs12028142 OR2B11 AU synonymous SNV NM_001004492 exon1 c.C33T p.D11D 0.101837 0.1935 0.095417 0.1312 0.1858 Uncertain 1_247615262_A->- 1 247615262 247615262 A - indel 3411.73 0/1 99 225 124 101 0.45 exonic rs35305980 OR2B11 AU frameshift deletion NM_001004492 exon1 c.23delT p.F8fs 0.449081 0.4762 0.394745 0.4629 0.4698 Pathogenic 1_247615470_T->C 1 247615470 247615470 T C snp 82.28 1/1 9 3 0 3 1.0 upstream rs4269805 OR2B11 AU 0.814497 0.9911 Uncertain 1_247695612_G->A 1 247695612 247695612 G A snp 5503.77 1/1 99 191 0 191 1.0 exonic rs6657127 OR2C3 AU nonsynonymous SNV NM_198074 exon2 c.C202T p.P68S 0.998403 1 0.998078 0.9995 1 1 T 0.001 P -0.987 T 0.0 T 0.0 T Pathogenic 1_247695756_T->C 1 247695756 247695756 T C snp 3894.77 1/1 99 140 0 140 1.0 exonic rs6697472 OR2C3 AU nonsynonymous SNV NM_198074 exon2 c.A58G p.T20A 0.977037 1 0.973858 0.9925 0.9999 0.04 T 0.0 P -0.912 T 0.0 T 0.0 T Pathogenic 1_247695958_T->C 1 247695958 247695958 T C snp 99.28 1/1 9 3 0 3 1.0 intronic rs6697675 GCSAML AU 0.976837 1 Uncertain 1_247728962_C->T 1 247728962 247728962 C T snp 52.74 1/1 6 2 0 2 1.0 intronic rs1151694 GCSAML AU NM_001281834 exon6 c.16739-270C>T 0.627196 0.7837 Uncertain 1_247752019_G->C 1 247752019 247752019 G C snp 4138.77 1/1 99 145 0 145 1.0 exonic rs1151687 OR2G2 AU nonsynonymous SNV NM_001001915 exon1 c.G358C p.V120L 0.579473 0.7599 0.553360 0.6779 0.7922 0.01 T 0.000 P -1.090 T 0.112 T 0.082 T Pathogenic 1_247752161_T->C 1 247752161 247752161 T C snp 1674.77 0/1 99 154 77 77 0.5 exonic rs10925085 OR2G2 AU nonsynonymous SNV NM_001001915 exon1 c.T500C p.L167P 0.307508 0.5228 0.302091 0.3623 0.5234 0 D 0.274 P -1.097 T 0.999 D 0.99 D Pathogenic 1_247752367_A->G 1 247752367 247752367 A G snp 1941.77 0/1 99 197 112 85 0.43 exonic rs869111 OR2G2 AU nonsynonymous SNV NM_001001915 exon1 c.A706G p.R236G 0.388778 0.4444 0.435722 0.4545 0.4652 1 T 0.000 P -1.023 T 0.0 T 0.0 T Pathogenic 1_247752651_T->- 1 247752651 247752651 T - indel 221.73 0/1 49 17 3 14 0.82 downstream rs35280339 OR2G2 AU 0.4671 0.5597 Uncertain 1_247769592_C->T 1 247769592 247769592 C T snp 2604.77 0/1 99 220 118 102 0.46 exonic rs1151683 OR2G3 AU synonymous SNV NM_001001914 exon1 c.C705T p.H235H 0.309904 0.3413 0.256805 0.2776 0.3498 Uncertain 1_247769752_A->G 1 247769752 247769752 A G snp 911.77 0/1 99 78 42 36 0.46 exonic rs61730407 OR2G3 AU nonsynonymous SNV NM_001001914 exon1 c.A865G p.I289V 0.338059 0.4325 0.361602 0.3979 0.4538 0.02 T 0.000 P -0.969 T 0.992 D 0.994 D Pathogenic 1_247835352_C->T 1 247835352 247835352 C T snp 885.77 1/1 66 25 0 25 1.0 downstream rs1151641 OR13G1 AU 0.808307 0.9802 Uncertain 1_247835674_G->A 1 247835674 247835674 G A snp 2521.77 0/1 99 211 106 105 0.5 exonic rs28446289 OR13G1 AU nonsynonymous SNV NM_001005487 exon1 c.C670T p.R224C 0.330871 0.3839 0.339074 0.3384 0.3889 0.01 T 0.0 P -0.937 T 0.112 T 0.052 T Pathogenic 1_247835908_T->A 1 247835908 247835908 T A snp 1361.77 0/1 99 118 62 56 0.47 exonic rs28556931 OR13G1 AU nonsynonymous SNV NM_001005487 exon1 c.A436T p.M146L 0.330272 0.376 0.339997 0.3384 0.3866 0.02 T 0.0 P -0.918 T 0.03 T 0.063 T Pathogenic 1_247835950_T->C 1 247835950 247835950 T C snp 1437.77 0/1 99 116 60 56 0.48 exonic rs1151640 OR13G1 AU nonsynonymous SNV NM_001005487 exon1 c.A394G p.I132V 0.40595 0.6032 0.337767 0.4453 0.6035 0.49 T 0.0 P -1.077 T 0.002 T 0.006 T ID=CM053366;DIS=Myocardial infarction, association with;TAG=DP;PUB=16175505 DP Pathogenic 1_247836008_G->A 1 247836008 247836008 G A snp 1180.77 0/1 99 102 52 50 0.49 exonic rs28555391 OR13G1 AU synonymous SNV NM_001005487 exon1 c.C336T p.F112F 0.329273 0.376 0.339074 0.3379 0.3855 Uncertain 1_247836207_T->A 1 247836207 247836207 T A snp 2077.77 0/1 99 176 91 85 0.48 exonic rs28711149 OR13G1 AU nonsynonymous SNV NM_001005487 exon1 c.A137T p.K46I 0.329473 0.376 0.339074 0.3383 0.3862 1 T 0.0 P -0.968 T 0.0 T 0.0 T Pathogenic 1_247836494_T->A 1 247836494 247836494 T A snp 80.77 0/1 99 6 3 3 0.5 upstream rs28607552 OR13G1 AU 0.329473 0.376 Uncertain 1_247875415_A->G 1 247875415 247875415 A G snp 2378.77 0/1 99 250 150 100 0.4 exonic rs2282316 OR6F1 AU nonsynonymous SNV NM_001005286 exon1 c.T643C p.F215L 0.352037 0.2401 0.356682 0.2534 0.2434 0.55 T 0.0 P -0.882 T 0.0 T 0.0 T Pathogenic 1_247875608_C->G 1 247875608 247875608 C G snp 1855.77 0/1 99 195 112 83 0.43 exonic rs6587382 OR6F1 AU synonymous SNV NM_001005286 exon1 c.G450C p.V150V 0.326278 0.2232 0.350531 0.2624 0.2324 Uncertain 1_247875689_A->G 1 247875689 247875689 A G snp 1458.77 0/1 99 142 84 58 0.41 exonic rs7512807 OR6F1 AU synonymous SNV NM_001005286 exon1 c.T369C p.C123C 0.157548 0.2202 0.140320 0.1319 0.2343 Uncertain 1_247921100_T->G 1 247921100 247921100 T G snp 1298.77 0/1 99 127 70 57 0.45 exonic rs1552812 OR1C1 AU synonymous SNV NM_012353 exon1 c.A609C p.G203G 0.732428 0.7659 0.769182 0.8463 0.7571 Uncertain 1_247921352_C->T 1 247921352 247921352 C T snp 3561.77 1/1 99 129 0 129 1.0 exonic rs1552813 OR1C1 AU synonymous SNV NM_012353 exon1 c.G357A p.A119A 0.84405 0.9851 0.841388 0.9195 0.9901 Uncertain 1_247921717_C->A 1 247921717 247921717 C A snp 909.77 1/1 69 31 0 31 1.0 upstream rs10888359 OR1C1 AU 0.845647 0.9851 0.842021 0.9217 0.9895 Uncertain 1_247978087_G->A 1 247978087 247978087 G A snp 1740.77 1/1 99 63 0 63 1.0 downstream rs10888248 OR14A16 AU 0.834065 1 0.809399 0.9078 0.9995 Uncertain 1_247978319_A->G 1 247978319 247978319 A G snp 3543.77 1/1 99 130 1 129 0.99 exonic rs6695283 OR14A16 AU nonsynonymous SNV NM_001001966 exon1 c.T713C p.I238T 0.998802 1 0.998770 0.9997 1 1 T 0.003 P -0.960 T 0.004 T 0.002 T Pathogenic 1_247978542_AGG->- 1 247978542 247978544 AGG - indel 11704.7 1/1 99 203 0 203 1.0 exonic rs35979231 OR14A16 AU nonframeshift deletion NM_001001966 exon1 c.488_490del p.163_164del 0.720647 0.9851 0.684076 0.8424 0.9907 Uncertain 1_247978996_A->G 1 247978996 247978996 A G snp 2011.77 1/1 99 72 0 72 1.0 exonic rs10888249 OR14A16 AU synonymous SNV NM_001001966 exon1 c.T36C p.L12L 0.846845 1 0.821363 0.9140 0.9995 Uncertain 1_248004614_G->A 1 248004614 248004614 G A snp 6918.77 1/1 99 235 0 235 1.0 exonic rs6667389 OR11L1 AU synonymous SNV NM_001001959 exon1 c.C585T p.T195T 0.846845 0.996 0.804782 0.8915 0.9975 Uncertain 1_248004687_C->G 1 248004687 248004687 C G snp 7251.77 1/1 99 250 1 249 1.0 exonic rs10888255 OR11L1 AU nonsynonymous SNV NM_001001959 exon1 c.G512C p.R171P 0.870407 0.996 0.829925 0.8983 0.9975 1 T 0.000 P -0.964 T 0.0 T 0.0 T Pathogenic 1_248004775_C->T 1 248004775 248004775 C T snp 6799.77 1/1 99 246 0 246 1.0 exonic rs10888256 OR11L1 AU nonsynonymous SNV NM_001001959 exon1 c.G424A p.A142T 0.890575 0.996 0.848224 0.9033 0.9975 0.5 T 0.0 P -0.988 T 0.0 T 0.01 T Pathogenic 1_248004848_G->C 1 248004848 248004848 G C snp 3805.77 1/1 99 121 0 121 1.0 exonic rs4607924 OR11L1 AU nonsynonymous SNV NM_001001959 exon1 c.C351G p.F117L 0.890375 0.996 0.848147 0.9033 0.9973 0.1 T 0.000 P -0.993 T 0.0 T 0.0 T Pathogenic 1_248004877_C->T 1 248004877 248004877 C T snp 2906.77 1/1 99 97 0 97 1.0 exonic rs10888257 OR11L1 AU nonsynonymous SNV NM_001001959 exon1 c.G322A p.G108S 0.871006 0.996 0.830002 0.8983 0.9974 0.29 T 0.004 P -0.950 T 0.998 D 0.892 D Pathogenic 1_248004884_T->C 1 248004884 248004884 T C snp 2748.77 1/1 99 91 0 91 1.0 exonic rs1339845 OR11L1 AU synonymous SNV NM_001001959 exon1 c.A315G p.V105V 0.95627 1 0.944103 0.9691 1 Uncertain 1_248005213_G->C 1 248005213 248005213 G C snp 1836.77 1/1 99 70 0 70 1.0 upstream rs7522811 OR11L1 AU 0.844848 0.996 0.816110 0.8926 0.9975 Uncertain 1_248020448_G->A 1 248020448 248020448 G A snp 227.84 1/1 18 7 0 7 1.0 upstream rs10749636 TRIM58 AU 0.654752 0.7738 Uncertain 1_248020556_G->C 1 248020556 248020556 G C snp 1987.77 1/1 99 68 0 68 1.0 exonic rs11204523 TRIM58 AU nonsynonymous SNV NM_015431 exon1 c.G8C p.W3S 0.680112 0.7897 0.678015 0.7660 0.7898 1 T 0.0 P -0.941 T 0.0 T 0.0 T Pathogenic 1_248028032_G->A 1 248028032 248028032 G A snp 589.77 0/1 99 61 35 26 0.43 exonic rs147592698 TRIM58 AU nonsynonymous SNV NM_015431 exon3 c.G542A p.R181H 0.00159744 0.0079 0.000077 0.0009 0.0122 0.01 T 1.000 N -1.001 T 0.285 T 0.048 T ID=COSM907105;OCCURENCE=1(endometrium),1(pancreas) Pathogenic 1_248028219_G->A 1 248028219 248028219 G A snp 157.77 0/1 99 19 11 8 0.42 exonic rs946696 TRIM58 AU synonymous SNV NM_015431 exon3 c.G729A p.P243P 0.415735 0.5744 0.415091 0.5855 0.5989 Uncertain 1_248039451_C->T 1 248039451 248039451 C T snp 1859.77 0/1 99 176 103 73 0.41 exonic rs3811444 TRIM58 AU nonsynonymous SNV NM_015431 exon6 c.C1121T p.T374M 0.227436 0.2292 0.258727 0.3049 0.2429 0.22 T 0.000 P -1.046 T 0.999 D 0.964 D ID=CM1212305;DIS=Red blood cell count, association with;TAG=DP;PUB=23222517 DP Pathogenic 1_248039713_A->G 1 248039713 248039713 A G snp 1369.77 0/1 99 155 99 56 0.36 exonic rs3811445 TRIM58 AU synonymous SNV NM_015431 exon6 c.A1383G p.T461T 0.584065 0.5417 0.586037 0.6086 0.5830 Uncertain 1_248058755_A->G 1 248058755 248058755 A G snp 83.77 0/1 69 5 2 3 0.6 upstream rs1337876 OR2W3 AU 0.951677 0.9415 Uncertain 1_248058761_G->C 1 248058761 248058761 G C snp 74.77 0/1 99 9 6 3 0.33 upstream rs11204543 OR2W3 AU 0.296725 0.4216 Uncertain 1_248058797_T->G 1 248058797 248058797 T G snp 632.77 0/1 99 34 15 19 0.56 upstream rs1856248 OR2W3 AU 0.951278 0.9405 Uncertain 1_248058845_A->C 1 248058845 248058845 A C snp 1556.77 0/1 99 131 64 67 0.51 upstream rs4500353 OR2W3 AU 0.951478 0.9425 0.955923 0.9705 0.9470 Uncertain 1_248058879_A->T 1 248058879 248058879 A T snp 2229.77 0/1 99 205 110 95 0.46 upstream rs6587387 OR2W3 AU 0.95028 0.9415 0.953252 0.9703 0.9442 Uncertain 1_248059423_C->T 1 248059423 248059423 C T snp 2923.77 0/1 99 188 72 116 0.62 exonic rs10888267 OR2W3 AU nonsynonymous SNV NM_001001957 exon1 c.C535T p.R179C 0.388978 0.5714 0.429955 0.4775 0.5547 1 T 0.005 P -0.914 T 0.001 T 0.0 T Pathogenic 1_248059456_G->A 1 248059456 248059456 G A snp 2711.77 0/1 99 173 66 107 0.62 exonic rs12135078 OR2W3 AU nonsynonymous SNV NM_001001957 exon1 c.G568A p.V190I 0.363618 0.5327 0.399969 0.4613 0.5182 0.08 T 0.0 P -1.000 T 0.145 T 0.104 T Pathogenic 1_248059476_A->C 1 248059476 248059476 A C snp 2698.77 0/1 99 169 68 101 0.6 exonic rs12139390 OR2W3 AU nonsynonymous SNV NM_001001957 exon1 c.A588C p.E196D 0.576078 0.5833 0.655851 0.7155 0.5609 0.05 T 0.000 P -0.914 T 0.999 D 0.986 D Pathogenic 1_248059703_T->A 1 248059703 248059703 T A snp 1682.77 0/1 99 163 97 66 0.4 exonic rs11204545 OR2W3 AU nonsynonymous SNV NM_001001957 exon1 c.T815A p.M272K 0.478035 0.5893 0.549900 0.5747 0.5714 1 T 0.0 P -1.028 T 0.0 T 0.0 T Pathogenic 1_248059712_T->C 1 248059712 248059712 T C snp 1597.77 0/1 99 159 96 63 0.4 exonic rs11204546 OR2W3 AU nonsynonymous SNV NM_001001957 exon1 c.T824C p.M275T 0.479832 0.5903 0.553206 0.5799 0.5727 0.83 T 0.000 P -1.069 T 0.0 T 0.0 T Pathogenic 1_248059804_C->T 1 248059804 248059804 C T snp 1189.77 0/1 99 67 23 44 0.66 exonic rs77494867 OR2W3 AU synonymous SNV NM_001001957 exon1 c.C916T p.L306L 0.0922524 0.1825 0.024839 0.0747 0.1756 Uncertain 1_248059856_T->C 1 248059856 248059856 T C snp 194.77 0/1 99 32 22 10 0.31 downstream rs10888268 OR2W3 AU 0.477236 0.5893 0.550832 0.5940 0.5802 Uncertain 1_248084222_T->C 1 248084222 248084222 T C snp 691.77 0/1 99 44 20 24 0.55 upstream rs12048237 OR2T8 AU 0.439696 0.5526 Uncertain 1_248084434_G->A 1 248084434 248084434 G A snp 1866.77 0/1 99 144 72 72 0.5 exonic rs11204563 OR2T8 AU nonsynonymous SNV NM_001005522 exon1 c.G115A p.G39S 0.462859 0.372 0.6421 0.3717 0.08 T 0.958 P -1.038 T 0.026 T 0.107 T Pathogenic 1_248084464_T->C 1 248084464 248084464 T C snp 2088.77 1/1 99 79 4 75 0.95 exonic rs11204564 OR2T8 AU nonsynonymous SNV NM_001005522 exon1 c.T145C p.W49R 0.7463 0.7200 0.15 T 0.0 P -1.010 T 0.0 T 0.0 T Pathogenic 1_248084511_T->C 1 248084511 248084511 T C snp 421.77 0/1 99 29 13 16 0.55 exonic rs41315864 OR2T8 AU synonymous SNV NM_001005522 exon1 c.T192C p.L64L 0.5143 0.5312 Uncertain 1_248085108_C->T 1 248085108 248085108 C T snp 114.77 0/1 99 28 22 6 0.21 exonic rs4625315 OR2T8 AU synonymous SNV NM_001005522 exon1 c.C789T p.H263H 0.6774 0.4451 Uncertain 1_248085124_G->A 1 248085124 248085124 G A snp 795.77 0/1 99 39 13 26 0.67 exonic rs4590708 OR2T8 AU nonsynonymous SNV NM_001005522 exon1 c.G805A p.D269N 0.350439 0.5387 0.231503 0.2865 0.5531 0.02 T 0.0 P -1.341 T 0.734 T 0.415 P Pathogenic 1_248085341_T->A 1 248085341 248085341 T A snp 633.77 0/1 99 52 31 21 0.4 downstream rs4925773 OR2T8 AU 0.625998 0.4474 Uncertain 1_248112627_T->C 1 248112627 248112627 T C snp 7007.77 1/1 99 245 1 244 1.0 exonic rs4925787 OR2L8 AU synonymous SNV NM_001001963 exon1 c.T468C p.C156C 0.411941 0.4385 0.461633 0.5293 0.4283 Uncertain 1_248112745_G->T 1 248112745 248112745 G T snp 7095.77 1/1 99 250 0 250 1.0 exonic rs4925788 OR2L8 AU nonsynonymous SNV NM_001001963 exon1 c.G586T p.G196C 0.722843 0.7808 0.8267 0.7444 0.16 T 0.000 P -0.903 T 0.008 T 0.013 T Pathogenic 1_248112762_T->C 1 248112762 248112762 T C snp 6898.77 1/1 99 244 0 244 1.0 exonic rs4925789 OR2L8 AU synonymous SNV NM_001001963 exon1 c.T603C p.S201S 0.729832 0.8165 0.555538 0.7907 0.7135 Uncertain 1_248112763_G->A 1 248112763 248112763 G A snp 6863.77 1/1 99 245 0 245 1.0 exonic rs4925790 OR2L8 AU nonsynonymous SNV NM_001001963 exon1 c.G604A p.A202T 0.743211 0.8165 0.579370 0.7948 0.7128 0.39 T 0.0 P -1.047 T 0.0 T 0.008 T Pathogenic 1_248112771_C->T 1 248112771 248112771 C T snp 7148.77 1/1 99 250 0 250 1.0 exonic rs4925791 OR2L8 AU synonymous SNV NM_001001963 exon1 c.C612T p.I204I 0.632554 0.7945 0.7146 Uncertain 1_248112809_A->G 1 248112809 248112809 A G snp 7514.77 1/1 99 250 0 250 1.0 exonic rs4925583 OR2L8 AU nonsynonymous SNV NM_001001963 exon1 c.A650G p.Y217C 0.75599 0.8829 0.753652 0.8623 0.7840 0.01 T 0.662 P -0.903 T 1.0 D 1.0 D Pathogenic 1_248112836_A->G 1 248112836 248112836 A G snp 7888.77 1/1 99 250 0 250 1.0 exonic rs4925792 OR2L8 AU nonsynonymous SNV NM_001001963 exon1 c.A677G p.H226R 0.761981 0.8849 0.765877 0.8965 0.8696 1 T 0.0 P -0.905 T 0.0 T 0.004 T Pathogenic 1_248129240_G->A 1 248129240 248129240 G A snp 5683.77 1/1 99 191 0 191 1.0 exonic rs4478844 OR2AK2 AU nonsynonymous SNV NM_001004491 exon1 c.G607A p.V203M 0.43131 0.4623 0.489466 0.5658 0.4562 0 D 0.0 P -1.052 T 1.0 D 0.994 D Pathogenic 1_248154493_T->C 1 248154493 248154493 T C snp 598.77 0/1 99 119 86 33 0.28 ncRNA_exonic rs201911921 OR2L1P AU 0.0603 0.1469 Uncertain 1_248154505_A->G 1 248154505 248154505 A G snp 461.77 0/1 99 110 84 26 0.24 intronic rs200140719 OR2L13 AU 0.0446 0.1113 Uncertain 1_248154521_C->T 1 248154521 248154521 C T snp 122.77 0/1 99 91 78 13 0.14 intronic rs530838308 OR2L13 AU 0.0644968 0.129 8.913e-05 0.0002 Uncertain 1_248154522_C->G 1 248154522 248154522 C G snp 112.77 0/1 99 89 77 12 0.13 intronic rs552808217 OR2L13 AU 0.0644968 0.129 8.034e-05 0.0002 Uncertain 1_248202344_G->C 1 248202344 248202344 G C snp 3336.77 0/1 99 249 127 122 0.49 exonic rs6658141 OR2L2 AU nonsynonymous SNV NM_001004686 exon1 c.G775C p.V259L 0.345048 0.3036 0.327080 0.1973 0.3193 0.63 T 0.0 P -0.989 T 0.0 T 0.001 T Pathogenic 1_248202474_A->G 1 248202474 248202474 A G snp 885.77 0/1 99 250 190 60 0.24 exonic rs144950416 OR2L2 AU nonsynonymous SNV NM_001004686 exon1 c.A905G p.Q302R 0.0344 0.0967 0.61 T 1 N -0.993 T 0.0 T 0.0 T Pathogenic 1_248224690_C->T 1 248224690 248224690 C T snp 2618.77 0/1 99 201 100 101 0.5 exonic rs148941926 OR2L3 AU nonsynonymous SNV NM_001004687 exon1 c.C707T p.A236V 0.00938498 0.0456 0.000154 0.0026 0.0352 0.04 T 0.559 N -1.001 T 0.209 T 0.181 T Pathogenic 1_248308723_A->C 1 248308723 248308723 A C snp 1104.77 0/1 99 75 40 35 0.47 exonic OR2M5 AU nonsynonymous SNV NM_001004690 exon1 c.A274C p.I92L 0 D 1.000 N -1.000 T 0.949 T 0.607 D Pathogenic 1_248343543_C->T 1 248343543 248343543 C T snp 1313.77 0/1 99 109 56 53 0.49 exonic rs9435919 OR2M2 AU synonymous SNV NM_001004688 exon1 c.C256T p.L86L 0.578474 0.4306 0.639111 0.6131 0.4139 Uncertain 1_248366702_G->A 1 248366702 248366702 G A snp 3551.77 0/1 99 250 114 136 0.54 exonic rs4916112 OR2M3 AU synonymous SNV NM_001004689 exon1 c.G333A p.E111E 0.483027 0.4325 0.537829 0.5658 0.4304 Uncertain 1_248366792_T->C 1 248366792 248366792 T C snp 2764.77 0/1 99 250 145 105 0.42 exonic rs12562957 OR2M3 AU synonymous SNV NM_001004689 exon1 c.T423C p.C141C 0.246006 0.3542 0.149623 0.1966 0.3678 Uncertain 1_248367415_C->T 1 248367415 248367415 C T snp 1194.77 1/1 87 37 0 37 1.0 downstream rs4916082 OR2M3 AU 0.798323 0.7897 Uncertain 1_248402758_C->T 1 248402758 248402758 C T snp 6300.77 1/1 99 221 0 221 1.0 exonic rs6666148 OR2M4 AU synonymous SNV NM_017504 exon1 c.C528T p.H176H 0.702875 0.7966 0.663924 0.7488 0.8014 Uncertain 1_248457979_C->A 1 248457979 248457979 C A snp 4567.77 1/1 99 174 0 174 1.0 exonic rs6667171 OR2T12 AU nonsynonymous SNV NM_001004692 exon1 c.G902T p.R301L 0.794728 0.8591 0.754729 0.7749 0.8586 0 D 0.0 P -0.917 T 0.01 T 0.014 T Pathogenic 1_248457993_C->G 1 248457993 248457993 C G snp 1729.77 0/1 99 159 82 77 0.48 exonic rs11204625 OR2T12 AU nonsynonymous SNV NM_001004692 exon1 c.G888C p.K296N 0.213059 0.3591 0.128249 0.2092 0.3690 0.22 T 0.0 P -1.060 T 0.952 T 0.703 D Pathogenic 1_248458569_T->G 1 248458569 248458569 T G snp 38.74 1/1 6 4 2 2 0.5 exonic rs35216356 OR2T12 AU synonymous SNV NM_001004692 exon1 c.A312C p.T104T 0.033147 0.0208 0.0944 0.1824 Uncertain 1_248458676_T->C 1 248458676 248458676 T C snp 920.77 1/1 33 38 1 37 0.97 exonic rs6678138 OR2T12 AU nonsynonymous SNV NM_001004692 exon1 c.A205G p.M69V 0.2988 0.2802 0.25 T 0.0 P -0.928 T 0.0 T 0.001 T Pathogenic 1_248458689_A->G 1 248458689 248458689 A G snp 1264.77 1/1 57 50 2 48 0.96 exonic rs6674940 OR2T12 AU synonymous SNV NM_001004692 exon1 c.T192C p.L64L 0.2927 0.2592 Uncertain 1_248458717_C->G 1 248458717 248458717 C G snp 1621.77 1/1 99 60 0 60 1.0 exonic rs12745228 OR2T12 AU nonsynonymous SNV NM_001004692 exon1 c.G164C p.R55T 0.7107 0.8505 1 T 0.000 P -0.919 T 0.0 T 0.0 T Pathogenic 1_248458736_A->G 1 248458736 248458736 A G snp 567.77 0/1 99 71 42 29 0.41 exonic rs28409263 OR2T12 AU nonsynonymous SNV NM_001004692 exon1 c.T145C p.W49R 0.227236 0.3601 0.115331 0.2061 0.3639 0.19 T 0.0 P -0.905 T 0.0 T 0.0 T Pathogenic 1_248458760_C->A 1 248458760 248458760 C A snp 745.77 0/1 99 81 48 33 0.41 exonic rs12135684 OR2T12 AU nonsynonymous SNV NM_001004692 exon1 c.G121T p.A41S 0.251198 0.3591 0.164616 0.2192 0.3626 0.74 T 0.0 P -1.028 T 0.001 T 0.008 T Pathogenic 1_248458876_T->- 1 248458876 248458876 T - indel 1079.73 0/1 99 50 21 29 0.58 exonic rs11339452 OR2T12 AU frameshift deletion NM_001004692 exon1 c.5delA p.E2fs 0.214657 0.3591 0.130251 0.2035 0.3677 ID=COSM327981;OCCURENCE=1(pancreas) Pathogenic 1_248486895_G->T 1 248486895 248486895 G T snp 2587.77 1/1 99 100 0 100 1.0 downstream rs4244184 OR2M7 AU 0.82528 0.8621 0.778649 0.7788 0.8605 Uncertain 1_248486913_A->G 1 248486913 248486913 A G snp 3124.77 1/1 99 119 0 119 1.0 downstream rs4244185 OR2M7 AU 0.801318 0.8621 0.756420 0.7727 0.8601 Uncertain 1_248487016_C->T 1 248487016 248487016 C T snp 1040.77 0/1 99 85 43 42 0.49 exonic rs4451579 OR2M7 AU synonymous SNV NM_001004691 exon1 c.G855A p.L285L 0.213658 0.3641 0.126480 0.2088 0.3765 Uncertain 1_248487338_C->A 1 248487338 248487338 C A snp 2130.77 1/1 99 58 0 58 1.0 exonic rs4916130 OR2M7 AU nonsynonymous SNV NM_001004691 exon1 c.G533T p.C178F 0.827476 0.8621 0.776573 0.7827 0.8603 1 T 0.000 P -0.903 T 0.0 T 0.0 T Pathogenic 1_248487638_A->G 1 248487638 248487638 A G snp 3408.77 1/1 99 102 0 102 1.0 exonic rs7555310 OR2M7 AU nonsynonymous SNV NM_001004691 exon1 c.T233C p.V78A 0.800519 0.8601 0.756574 0.7757 0.8609 0.01 T 0.0 P -1.077 T 0.969 D 0.701 D Pathogenic 1_248487768_A->G 1 248487768 248487768 A G snp 3370.77 1/1 99 117 0 117 1.0 exonic rs7555424 OR2M7 AU nonsynonymous SNV NM_001004691 exon1 c.T103C p.F35L 0.800919 0.8621 0.756497 0.7757 0.8610 0.01 T 0.000 P -1.110 T 0.85 T 0.291 P Pathogenic 1_248511928_G->T 1 248511928 248511928 G T snp 71.77 0/1 99 7 4 3 0.43 upstream rs28419186 OR14C36 AU 0.464457 0.4315 Uncertain 1_248512064_T->G 1 248512064 248512064 T G snp 2790.77 0/1 99 246 126 120 0.49 upstream rs28372410 OR14C36 AU 0.464657 0.4315 0.517607 0.5290 0.4226 Uncertain 1_248512094_C->T 1 248512094 248512094 C T snp 2880.77 0/1 99 250 128 122 0.49 exonic rs28728105 OR14C36 AU synonymous SNV NM_001001918 exon1 c.C18T p.T6T 0.464257 0.4315 0.517838 0.5324 0.4223 Uncertain 1_248512498_A->G 1 248512498 248512498 A G snp 1813.77 0/1 99 142 66 76 0.54 exonic rs28448343 OR14C36 AU nonsynonymous SNV NM_001001918 exon1 c.A422G p.Q141R 0.254393 0.4276 0.163079 0.2321 0.4304 0.49 T 0.0 P -1.060 T 0.988 D 0.93 D Pathogenic 1_248512637_C->T 1 248512637 248512637 C T snp 1496.77 0/1 99 127 67 60 0.47 exonic rs2039824 OR14C36 AU synonymous SNV NM_001001918 exon1 c.C561T p.C187C 0.460463 0.4315 0.511918 0.5264 0.4210 Uncertain 1_248512749_G->A 1 248512749 248512749 G A snp 1216.77 0/1 99 104 57 47 0.45 exonic rs28377739 OR14C36 AU nonsynonymous SNV NM_001001918 exon1 c.G673A p.G225R 0.460463 0.4315 0.511918 0.5264 0.4214 1 T 0.0 P -0.969 T 0.002 T 0.0 T Pathogenic 1_248512767_G->T 1 248512767 248512767 G T snp 1106.77 0/1 99 100 55 45 0.45 exonic rs28545014 OR14C36 AU nonsynonymous SNV NM_001001918 exon1 c.G691T p.D231Y 0.460863 0.4315 0.512225 0.5263 0.4216 0 D 0.0 P -1.097 T 1.0 D 0.987 D Pathogenic 1_248513023_G->A 1 248513023 248513023 G A snp 469.77 0/1 99 30 12 18 0.6 downstream rs28607995 OR14C36 AU 0.460863 0.4325 0.554893 0.5303 0.4246 Uncertain 1_248513088_G->C 1 248513088 248513088 G C snp 114.77 0/1 66 6 2 4 0.67 downstream rs28481429 OR14C36 AU 0.460663 0.4315 Uncertain 1_248524992_A->G 1 248524992 248524992 A G snp 116.77 0/1 99 140 125 15 0.11 exonic rs45552134 OR2T4 AU nonsynonymous SNV NM_001004696 exon1 c.A110G p.N37S 0.022562 0.01 T 0.002 P -0.865 T 0.028 T 0.028 T Pathogenic 1_248525021_T->A 1 248525021 248525021 T A snp 186.77 0/1 99 151 132 19 0.13 exonic rs45438195 OR2T4 AU nonsynonymous SNV NM_001004696 exon1 c.T139A p.L47M 0.064596 6.206e-05 0 0.23 T 0.0 P -0.932 T 0.002 T 0.015 T Pathogenic 1_248525053_A->T 1 248525053 248525053 A T snp 403.77 0/1 99 165 138 27 0.16 exonic rs28415565 OR2T4 AU synonymous SNV NM_001004696 exon1 c.A171T p.A57A 0.294129 0.4276 0.2126 0.3905 Uncertain 1_248525060_T->A 1 248525060 248525060 T A snp 345.77 0/1 99 155 129 26 0.17 exonic rs28491677 OR2T4 AU nonsynonymous SNV NM_001004696 exon1 c.T178A p.C60S 0.294928 0.4276 0.2121 0.3889 0.04 T 0.0 P -0.950 T 0.002 T 0.006 T Pathogenic 1_248525071_T->C 1 248525071 248525071 T C snp 426.77 0/1 99 144 117 27 0.19 exonic rs28499298 OR2T4 AU synonymous SNV NM_001004696 exon1 c.T189C p.I63I 0.346246 0.4385 0.1966 0.3734 Uncertain 1_248525135_G->A 1 248525135 248525135 G A snp 127.77 0/1 99 131 111 20 0.15 exonic rs76721536 OR2T4 AU nonsynonymous SNV NM_001004696 exon1 c.G253A p.A85T 0.308307 0.3819 0.2861 0.3922 0.71 T 1 N -0.959 T 0.0 T 0.002 T Pathogenic 1_248525138_C->T 1 248525138 248525138 C T snp 88.77 0/1 99 132 111 21 0.16 exonic rs75096121 OR2T4 AU nonsynonymous SNV NM_001004696 exon1 c.C256T p.H86Y 0.307508 0.3819 0.2848 0.3927 0 D 1 N -0.931 T 0.003 T 0.022 T Pathogenic 1_248525146_C->T 1 248525146 248525146 C T snp 667.77 0/1 99 134 97 37 0.28 exonic rs28482938 OR2T4 AU synonymous SNV NM_001004696 exon1 c.C264T p.H88H 0.167231 0.2032 0.3428 Uncertain 1_248525193_C->T 1 248525193 248525193 C T snp 700.77 0/1 99 128 88 40 0.31 exonic rs28655275 OR2T4 AU nonsynonymous SNV NM_001004696 exon1 c.C311T p.A104V 0.092063 0.1812 0.3371 0.14 T 0.0 P -1.004 T 0.0 T 0.0 T Pathogenic 1_248525285_T->C 1 248525285 248525285 T C snp 1348.77 0/1 99 200 139 61 0.3 exonic rs28637620 OR2T4 AU nonsynonymous SNV NM_001004696 exon1 c.T403C p.F135L 0.335264 0.4514 0.2543 0.4402 1 T 0.0 P -0.921 T 0.0 T 0.001 T Pathogenic 1_248525290_C->T 1 248525290 248525290 C T snp 1361.77 0/1 99 197 139 58 0.29 exonic rs202028348 OR2T4 AU synonymous SNV NM_001004696 exon1 c.C408T p.Y136Y 0.309305 0.4405 0.2447 0.4307 Uncertain 1_248525291_G->C 1 248525291 248525291 G C snp 1368.77 0/1 99 197 139 58 0.29 exonic rs28540568 OR2T4 AU nonsynonymous SNV NM_001004696 exon1 c.G409C p.V137L 0.269169 0.4266 0.2469 0.4347 1 T 1 N -0.946 T 0.0 T 0.0 T Pathogenic 1_248525328_-->TA 1 248525328 248525328 - TA indel 3584.73 0/1 99 230 145 85 0.37 exonic rs61248663 OR2T4 AU frameshift insertion NM_001004696 exon1 c.446_447insTA p.T149fs 0.271166 0.381 0.2099 0.3659 Pathogenic 1_248525330_A->G 1 248525330 248525330 A G snp 1960.77 0/1 99 237 147 90 0.38 exonic rs56721857 OR2T4 AU nonsynonymous SNV NM_001004696 exon1 c.A448G p.M150V 0.271166 0.381 0.2099 0.3660 0 D 0.959 D -1.090 T 0.989 D 0.844 D Pathogenic 1_248525647_C->A 1 248525647 248525647 C A snp 2427.77 0/1 99 249 135 114 0.46 exonic rs28405645 OR2T4 AU synonymous SNV NM_001004696 exon1 c.C765A p.L255L 0.293131 0.4256 0.188836 0.2258 0.4221 Uncertain 1_248525650_C->T 1 248525650 248525650 C T snp 2566.77 0/1 99 250 133 117 0.47 exonic rs28602650 OR2T4 AU synonymous SNV NM_001004696 exon1 c.C768T p.T256T 0.294129 0.4276 0.188759 0.2258 0.4223 Uncertain 1_248525657_G->A 1 248525657 248525657 G A snp 2753.77 0/1 99 250 130 120 0.48 exonic rs28718027 OR2T4 AU nonsynonymous SNV NM_001004696 exon1 c.G775A p.G259R 0.294728 0.4296 0.187759 0.2259 0.4234 1 T 0.0 P -0.966 T 0.0 T 0.001 T Pathogenic 1_248525780_C->T 1 248525780 248525780 C T snp 1944.77 0/1 99 208 122 86 0.41 exonic rs28698997 OR2T4 AU nonsynonymous SNV NM_001004696 exon1 c.C898T p.P300S 0.294329 0.4276 0.189374 0.2271 0.4266 0.06 T 0.0 P -1.106 T 0.34 T 0.279 T Pathogenic 1_248550894_T->G 1 248550894 248550894 T G snp 1117.77 0/1 99 98 53 45 0.46 upstream rs7418152 OR2T6 AU 0.377596 0.4375 0.253268 0.2471 0.4309 Uncertain 1_248550970_A->G 1 248550970 248550970 A G snp 2351.77 0/1 99 226 124 102 0.45 exonic rs7417616 OR2T6 AU nonsynonymous SNV NM_001005471 exon1 c.A61G p.N21D 0.377396 0.4375 0.253883 0.2454 0.4300 0.03 T 0.0 P -0.953 T 0.0 T 0.0 T Pathogenic 1_248550976_T->G 1 248550976 248550976 T G snp 2503.77 0/1 99 238 128 110 0.46 exonic rs6587467 OR2T6 AU nonsynonymous SNV NM_001005471 exon1 c.T67G p.C23G 0.772764 0.749 0.751115 0.7212 0.7115 0.33 T 0.0 P -1.034 T 0.0 T 0.0 T Pathogenic 1_248551203_T->C 1 248551203 248551203 T C snp 740.77 0/1 99 59 35 24 0.41 exonic rs6700947 OR2T6 AU synonymous SNV NM_001005471 exon1 c.T294C p.T98T 0.369409 0.4365 0.245271 0.2432 0.4305 Uncertain 1_248551560_C->T 1 248551560 248551560 C T snp 1647.77 0/1 99 156 78 78 0.5 exonic rs954474 OR2T6 AU synonymous SNV NM_001005471 exon1 c.C651T p.S217S 0.29373 0.4365 0.174842 0.2224 0.4309 Uncertain 1_248551636_T->G 1 248551636 248551636 T G snp 2253.77 0/1 99 197 105 92 0.47 exonic rs954475 OR2T6 AU nonsynonymous SNV NM_001005471 exon1 c.T727G p.S243A 0.369609 0.4365 0.247424 0.2429 0.4311 0 D 0.000 P -0.926 T 1.0 D 1.0 D Pathogenic 1_248551955_C->A 1 248551955 248551955 C A snp 187.77 0/1 57 9 3 6 0.67 downstream rs28437787 OR2T6 AU 0.29373 0.4365 Uncertain 1_248570440_G->A 1 248570440 248570440 G A snp 878.77 1/1 63 33 0 33 1.0 downstream rs6695780 OR2T1 AU 0.854034 0.8621 0.833077 0.8251 0.8522 Uncertain 1_248604365_A->G 1 248604365 248604365 A G snp 108.77 0/1 80 7 3 4 0.57 intergenic rs61834484 OR2T1 AU Uncertain 1_248604384_A->G 1 248604384 248604384 A G snp 132.77 0/1 99 13 8 5 0.38 intergenic rs74154431 OR2T1 AU Uncertain 1_248604452_A->G 1 248604452 248604452 A G snp 102.77 0/1 99 41 32 9 0.22 intergenic rs78822516 OR2T1 AU 0.378594 0.4554 Uncertain 1_248604455_AT->- 1 248604455 248604456 AT - indel 1437.73 0/1 99 39 7 32 0.82 intergenic rs113331655 OR2T1 AU 0.286741 0.3413 Uncertain 1_248604465_C->T 1 248604465 248604465 C T snp 1264.77 1/1 93 49 0 49 1.0 intergenic rs1770074 OR2T1 AU 0.4345 0.6213 Uncertain 1_248604542_C->T 1 248604542 248604542 C T snp 1909.77 1/1 99 78 0 78 1.0 intergenic rs61834485 OR2T1 AU 0.672324 0.8641 0.7275 0.9625 Uncertain 1_248604614_A->T 1 248604614 248604614 A T snp 960.77 0/1 99 176 94 82 0.47 intergenic rs61834486 OR2T1 AU 0.5136 0.5048 Uncertain 1_248604765_T->A 1 248604765 248604765 T A snp 6163.77 1/1 99 250 0 250 1.0 intergenic rs144165631 OR2T1 AU 0.669329 0.7232 0.6162 0.7162 Uncertain 1_248605065_C->T 1 248605065 248605065 C T snp 824.77 0/1 99 216 170 46 0.21 intergenic rs201562043 OR2T1 AU 0.1004 0.1113 Uncertain 1_248616401_G->A 1 248616401 248616401 G A snp 966.77 0/1 99 250 143 107 0.43 exonic rs77680148 OR2T2 AU synonymous SNV NM_001004136 exon1 c.G303A p.Q101Q 0.3274 0.3973 Uncertain 1_248616408_C->T 1 248616408 248616408 C T snp 1026.77 0/1 99 248 141 107 0.43 exonic rs67700848 OR2T2 AU nonsynonymous SNV NM_001004136 exon1 c.C310T p.L104F 0.3273 0.3973 1 T 0.0 P -1.018 T 0.008 T 0.01 T Pathogenic 1_248617173_A->G 1 248617173 248617173 A G snp 589.77 0/1 99 81 45 36 0.44 downstream rs78428672 OR2T2 AU Uncertain 1_248617181_C->T 1 248617181 248617181 C T snp 477.77 0/1 99 76 44 32 0.42 downstream rs556864149 OR2T2 AU 0.0694888 0.0456 Uncertain 1_248636579_C->T 1 248636579 248636579 C T snp 726.77 0/1 99 130 93 37 0.28 upstream rs1782198 OR2T3 AU Uncertain 1_248637046_G->A 1 248637046 248637046 G A snp 1099.77 0/1 99 250 171 79 0.32 exonic rs148025314 OR2T3 AU nonsynonymous SNV NM_001005495 exon1 c.G395A p.C132Y 0.2863 0.4450 0 D 0.446 P -0.940 T 1.0 D 0.999 D Pathogenic 1_248637065_A->G 1 248637065 248637065 A G snp 792.77 0/1 99 250 171 79 0.32 exonic rs139758663 OR2T3 AU synonymous SNV NM_001005495 exon1 c.A414G p.P138P 0.1367 0.1527 Uncertain 1_248637115_T->C 1 248637115 248637115 T C snp 603.77 0/1 99 250 127 123 0.49 exonic rs79056151 OR2T3 AU nonsynonymous SNV NM_001005495 exon1 c.T464C p.V155A 0.2589 0.3912 0.28 T 0.0 P -0.901 T 0.14 T 0.103 T Pathogenic 1_248637291_G->A 1 248637291 248637291 G A snp 35.77 0/1 64 167 155 12 0.07 exonic rs1770109 OR2T3 AU nonsynonymous SNV NM_001005495 exon1 c.G640A p.A214T 0.190495 0.2867 0.0042 0.0123 0.05 T 1 N -0.946 T 0.677 T 0.166 P Pathogenic 1_248637362_C->T 1 248637362 248637362 C T snp 1784.77 0/1 99 250 168 82 0.33 exonic rs77686526 OR2T3 AU synonymous SNV NM_001005495 exon1 c.C711T p.A237A 0.382388 0.503 0.3176 0.4956 Uncertain 1_248637367_A->G 1 248637367 248637367 A G snp 744.77 0/1 99 250 186 64 0.26 exonic rs1770108 OR2T3 AU nonsynonymous SNV NM_001005495 exon1 c.A716G p.H239R 0.0089 0.0028 1 T 1 N -0.908 T 0.0 T 0.0 T Pathogenic 1_248637391_C->T 1 248637391 248637391 C T snp 518.77 0/1 99 250 210 40 0.16 exonic rs150934113 OR2T3 AU nonsynonymous SNV NM_001005495 exon1 c.C740T p.S247F 0.0166 0.0093 0.01 T 1 N -1.148 T 0.886 T 0.768 P Pathogenic 1_248637416_G->C 1 248637416 248637416 G C snp 565.77 0/1 99 250 212 38 0.15 exonic rs75924848 OR2T3 AU synonymous SNV NM_001005495 exon1 c.G765C p.L255L 0.290136 0.3661 0.2351 0.3501 Uncertain 1_248637417_C->T 1 248637417 248637417 C T snp 591.77 0/1 99 250 211 39 0.16 exonic rs74711605 OR2T3 AU nonsynonymous SNV NM_001005495 exon1 c.C766T p.L256F 0.290136 0.3661 0.2458 0.3566 1 T 1 N -0.963 T 0.0 T 0.001 T Pathogenic 1_248637480_A->G 1 248637480 248637480 A G snp 1462.77 0/1 99 250 184 66 0.26 exonic rs74498773 OR2T3 AU nonsynonymous SNV NM_001005495 exon1 c.A829G p.M277V 0.090203 0.1217 0.1103 0 D 1 N -0.982 T 0.08 T 0.05 T Pathogenic 1_248637543_C->T 1 248637543 248637543 C T snp 1398.77 0/1 99 248 181 67 0.27 exonic rs139993642 OR2T3 AU nonsynonymous SNV NM_001005495 exon1 c.C892T p.R298C 0.093149 0.2681 0.3850 0.01 T 0.152 P -0.989 T 1.0 D 0.983 D Pathogenic 1_248637597_C->T 1 248637597 248637597 C T snp 1711.77 0/1 99 226 151 75 0.33 exonic rs138170450 OR2T3 AU stopgain NM_001005495 exon1 c.C946T p.Q316X 0.000385 0.0039 0.0480 0.92 T 1 N Pathogenic 1_248637685_T->C 1 248637685 248637685 T C snp 883.77 0/1 99 49 16 33 0.67 downstream rs201431222 OR2T3 AU Uncertain 1_248637739_G->A 1 248637739 248637739 G A snp 76.77 0/1 99 10 6 4 0.4 downstream rs200378687 OR2T3 AU Uncertain 1_248651905_A->T 1 248651905 248651905 A T snp 42.77 0/1 71 123 100 23 0.19 exonic rs199833498 OR2T5 AU nonsynonymous SNV NM_001004697 exon1 c.A16T p.R6W 0.260579 0.0869 0.3067 0.43 T 0.0 P -1.079 T 0.0 T 0.0 T ID=COSM1743982;OCCURENCE=1(biliary_tract) Pathogenic 1_248651927_A->G 1 248651927 248651927 A G snp 1317.77 1/1 99 155 0 155 1.0 exonic rs1770043 OR2T5 AU nonsynonymous SNV NM_001004697 exon1 c.A38G p.K13R 0.916534 0.997 0.5563 0.9929 0.43 T 0.0 P -0.938 T 0.0 T 0.0 T Pathogenic 1_248652011_A->T 1 248652011 248652011 A T snp 659.77 0/1 99 245 169 76 0.31 exonic rs150528589 OR2T5 AU nonsynonymous SNV NM_001004697 exon1 c.A122T p.K41M 0.391573 0.3542 0.212643 0.2796 0.3842 1 T 0.0 P -1.034 T 0.0 T 0.0 T Pathogenic 1_248652023_G->A 1 248652023 248652023 G A snp 654.77 0/1 99 250 175 75 0.3 exonic rs139516854 OR2T5 AU nonsynonymous SNV NM_001004697 exon1 c.G134A p.G45E 0.2616 0.3670 0.04 T 0.0 P -1.090 T 0.058 T 0.102 T Pathogenic 1_248652058_G->A 1 248652058 248652058 G A snp 604.77 0/1 99 200 135 65 0.33 exonic rs199730299 OR2T5 AU nonsynonymous SNV NM_001004697 exon1 c.G169A p.A57T 0.211462 0.2381 0.0097 0.0317 0.84 T 0.0 P -1.009 T 0.0 T 0.001 T Pathogenic 1_248652061_C->T 1 248652061 248652061 C T snp 596.77 0/1 99 197 130 67 0.34 exonic rs200544370 OR2T5 AU nonsynonymous SNV NM_001004697 exon1 c.C172T p.H58Y 0.211462 0.2381 0.0090 0.0300 0 D 0.0 P -1.041 T 0.005 T 0.013 T Pathogenic 1_248652071_G->C 1 248652071 248652071 G C snp 596.77 0/1 99 200 126 74 0.37 exonic rs199723306 OR2T5 AU nonsynonymous SNV NM_001004697 exon1 c.G182C p.S61T 0.386182 0.3591 0.0050 0.0218 1 T 0.0 P -1.016 T 0.0 T 0.0 T Pathogenic 1_248685253_T->C 1 248685253 248685253 T C snp 4766.77 1/1 99 159 0 159 1.0 exonic rs9727474 OR2G6 AU synonymous SNV NM_001013355 exon1 c.T306C p.Y102Y 0.951877 1 0.949100 0.9857 1 Uncertain 1_248685719_A->T 1 248685719 248685719 A T snp 3217.75 0/1 99 250 127 123 0.49 exonic rs9330305 OR2G6 AU nonsynonymous SNV NM_001013355 exon1 c.A772T p.M258L 0.159145 0.0913 0.170767 0.1372 0.1182 0.02 T 0.000 P -0.726 T 0.934 T 0.654 D Pathogenic 1_248722507_C->T 1 248722507 248722507 C T snp 44.74 1/1 6 237 112 125 0.53 exonic rs199706827 OR2T29 AU nonsynonymous SNV NM_001004694 exon1 c.G286A p.V96I 0.5073 0.6069 1 T 0.0 P -1.011 T 0.0 T 0.0 T Pathogenic 1_248722566_G->A 1 248722566 248722566 G A snp 93.77 0/1 99 179 159 20 0.11 exonic rs200777722 OR2T29 AU nonsynonymous SNV NM_001004694 exon1 c.C227T p.A76V 0.2196 0.3377 0.09 T 1 N -0.948 T 0.0 T 0.0 T Pathogenic 1_248722611_C->G 1 248722611 248722611 C G snp 1315.77 1/1 99 143 50 93 0.65 exonic rs200169450 OR2T29 AU nonsynonymous SNV NM_001004694 exon1 c.G182C p.S61T 0.462061 0.4544 0.3237 0.4147 1 T 1 N -0.945 T 0.0 T 0.0 T Pathogenic 1_248722613_G->A 1 248722613 248722613 G A snp 280.77 0/1 99 148 114 34 0.23 exonic rs199532952 OR2T29 AU synonymous SNV NM_001004694 exon1 c.C180T p.H60H 0.0557 0.1224 Uncertain 1_248722621_G->A 1 248722621 248722621 G A snp 1011.77 0/1 99 171 106 65 0.38 exonic rs201345491 OR2T29 AU nonsynonymous SNV NM_001004694 exon1 c.C172T p.H58Y 0.275958 0.3462 0.2288 0.2646 0 D 0.0 P -1.027 T 0.005 T 0.013 T Pathogenic 1_248722624_C->T 1 248722624 248722624 C T snp 1034.77 0/1 99 170 105 65 0.38 exonic rs200919674 OR2T29 AU nonsynonymous SNV NM_001004694 exon1 c.G169A p.A57T 0.293131 0.3462 0.2313 0.2704 0.83 T 0.0 P -1.018 T 0.0 T 0.001 T Pathogenic 1_248722659_C->T 1 248722659 248722659 C T snp 1823.77 0/1 99 233 128 105 0.45 exonic rs201896684 OR2T29 AU nonsynonymous SNV NM_001004694 exon1 c.G134A p.G45E 0.376198 0.3849 0.2533 0.2294 0.05 T 0.000 P -1.050 T 0.058 T 0.063 T Pathogenic 1_248722671_T->A 1 248722671 248722671 T A snp 3186.77 1/1 99 250 75 175 0.7 exonic rs140437806 OR2T29 AU nonsynonymous SNV NM_001004694 exon1 c.A122T p.K41M 0.498003 0.5427 0.5801 0.7084 1 T 0.0 P -1.027 T 0.0 T 0.0 T Pathogenic 1_248722722_T->C 1 248722722 248722722 T C snp 111.77 0/1 99 248 142 106 0.43 exonic rs1629363 OR2T29 AU nonsynonymous SNV NM_001004694 exon1 c.A71G p.Q24R 0.598442 0.5228 0.3354 0.2819 0.19 T 0.0 P -1.136 T 0.0 T 0.003 T Pathogenic 1_248722739_G->C 1 248722739 248722739 G C snp 310.77 0/1 99 249 208 41 0.16 exonic rs200935922 OR2T29 AU synonymous SNV NM_001004694 exon1 c.C54G p.L18L 0.1819 0.3198 Uncertain 1_248722752_A->G 1 248722752 248722752 A G snp 229.77 0/1 99 248 215 33 0.13 exonic rs768630054 OR2T29 AU nonsynonymous SNV NM_001004694 exon1 c.T41C p.L14S 0.0174 0.0446 1 T 1 N -0.971 T 0.0 T 0.0 T Pathogenic 1_248722756_T->A 1 248722756 248722756 T A snp 245.77 0/1 99 247 215 32 0.13 exonic rs776458271 OR2T29 AU nonsynonymous SNV NM_001004694 exon1 c.A37T p.R13W 0.0007 0.0017 0.18 T 1 N -0.961 T 0.0 T 0.0 T Pathogenic 1_248722767_T->C 1 248722767 248722767 T C snp 198.77 0/1 99 238 211 27 0.11 exonic rs764893066 OR2T29 AU nonsynonymous SNV NM_001004694 exon1 c.A26G p.N9S 9.122e-05 0.0002 0.01 T 1.000 N -0.766 T 0.026 T 0.033 T Pathogenic 1_248722777_T->A 1 248722777 248722777 T A snp 3064.77 1/1 99 216 77 139 0.64 exonic rs1890803 OR2T29 AU nonsynonymous SNV NM_001004694 exon1 c.A16T p.R6W 0.353561 0.3124 0.3933 0.43 T 0.0 P -1.251 T Pathogenic 1_248722788_G->T 1 248722788 248722788 G T snp 222.77 0/1 99 192 174 18 0.09 exonic OR2T29 AU nonsynonymous SNV NM_001004694 exon1 c.C5A p.A2D 1 T 1 N -0.948 T Pathogenic 1_248722883_A->G 1 248722883 248722883 A G snp 573.77 1/1 45 26 10 16 0.62 upstream rs78125102 OR2T29 AU 0.451078 0.6141 Uncertain 1_248722888_C->G 1 248722888 248722888 C G snp 527.77 1/1 42 22 7 15 0.68 upstream rs78981094 OR2T29 AU 0.451078 0.6141 Uncertain 1_248737230_T->C 1 248737230 248737230 T C snp 292.77 0/1 99 98 80 18 0.18 exonic rs199863869 OR2T34 AU nonsynonymous SNV NM_001001821 exon1 c.A829G p.M277V 0.158946 0.0942 0.1572 0.1326 0 D 0.0 P -1.057 T 0.037 T 0.05 T Pathogenic 1_248737259_C->G 1 248737259 248737259 C G snp 1580.77 1/1 99 87 0 87 1.0 exonic rs1770107 OR2T34 AU nonsynonymous SNV NM_001001821 exon1 c.G800C p.R267P 0.9959 0.9992 1 T 0.0 P -0.984 T 0.0 T 0.0 T Pathogenic 1_248737293_G->A 1 248737293 248737293 G A snp 1374.77 0/1 99 138 79 59 0.43 exonic rs200427293 OR2T34 AU nonsynonymous SNV NM_001001821 exon1 c.C766T p.L256F 0.302516 0.3194 0.2576 0.3453 1 T 1 N -0.930 T 0.0 T 0.001 T Pathogenic 1_248737294_C->G 1 248737294 248737294 C G snp 1443.77 0/1 99 141 80 61 0.43 exonic rs201475070 OR2T34 AU synonymous SNV NM_001001821 exon1 c.G765C p.L255L 0.302516 0.3194 0.2573 0.3457 Uncertain 1_248737319_G->A 1 248737319 248737319 G A snp 2078.77 0/1 99 216 121 95 0.44 exonic rs77940099 OR2T34 AU nonsynonymous SNV NM_001001821 exon1 c.C740T p.S247F 0.165740 0.1247 0.1127 0.01 T 0.000 P -1.095 T 0.975 D 0.896 D Pathogenic 1_248737343_C->T 1 248737343 248737343 C T snp 1180.77 0/1 99 250 189 61 0.24 exonic rs61833441 OR2T34 AU nonsynonymous SNV NM_001001821 exon1 c.G716A p.R239H 0.2466 0.3547 0.03 T 1 N -0.977 T 0.126 T 0.082 T Pathogenic 1_248737348_G->A 1 248737348 248737348 G A snp 4036.77 0/1 99 250 91 159 0.64 exonic rs61833442 OR2T34 AU synonymous SNV NM_001001821 exon1 c.C711T p.A237A 0.324481 0.251 0.3269 0.3946 Uncertain 1_248737511_A->G 1 248737511 248737511 A G snp 1032.77 0/1 99 250 194 56 0.22 exonic rs150608839 OR2T34 AU nonsynonymous SNV NM_001001821 exon1 c.T548C p.F183S 0.154952 0.0942 0.090860 0.1259 0.1133 0 D 0.000 P -0.887 T 0.999 D 0.993 D Pathogenic 1_248737595_A->G 1 248737595 248737595 A G snp 1308.77 0/1 99 245 115 130 0.53 exonic rs150601708 OR2T34 AU nonsynonymous SNV NM_001001821 exon1 c.T464C p.V155A 0.3379 0.4151 0.3 T 0.0 P -0.911 T 0.015 T 0.026 T Pathogenic 1_248737645_T->C 1 248737645 248737645 T C snp 112.77 0/1 99 244 181 63 0.26 exonic rs143071665 OR2T34 AU synonymous SNV NM_001001821 exon1 c.A414G p.P138P 0.1175 0.1191 Uncertain 1_248789454_G->C 1 248789454 248789454 G C snp 1725.77 1/1 99 59 0 59 1.0 downstream rs1892441 OR2T11 AU 0.876597 1 0.869032 0.9599 1 Uncertain 1_248789504_T->C 1 248789504 248789504 T C snp 2636.77 1/1 99 95 0 95 1.0 exonic rs1892442 OR2T11 AU nonsynonymous SNV NM_001001964 exon1 c.A926G p.Q309R 0.95607 1 0.946971 0.9805 0.9994 0.28 T 0.000 P -1.035 T 0.0 T 0.002 T Pathogenic 1_248790075_A->G 1 248790075 248790075 A G snp 3934.77 1/1 99 140 1 139 0.99 exonic rs1892443 OR2T11 AU nonsynonymous SNV NM_001001964 exon1 c.T355C p.C119R 0.912939 1 0.902641 0.9688 1 1 T 0.469 P -1.022 T 0.0 T 0.0 T Pathogenic 1_248801480_A->G 1 248801480 248801480 A G snp 260.77 0/1 99 31 20 11 0.35 downstream rs1770041 OR2T35 AU 0.135982 0.1885 Uncertain 1_248801488_C->T 1 248801488 248801488 C T snp 274.77 0/1 99 34 21 13 0.38 downstream rs1782216 OR2T35 AU Uncertain 1_248801505_-->CA 1 248801505 248801505 - CA indel 551.73 0/1 99 23 10 13 0.57 downstream OR2T35 AU Uncertain 1_248801511_A->G 1 248801511 248801511 A G snp 394.77 0/1 99 38 22 16 0.42 downstream OR2T35 AU Uncertain 1_248801515_C->- 1 248801515 248801515 C - indel 478.73 0/1 99 25 10 15 0.6 downstream OR2T35 AU Uncertain 1_248801528_G->A 1 248801528 248801528 G A snp 588.77 0/1 99 47 22 25 0.53 downstream rs764022470 OR2T35 AU Uncertain 1_248801538_G->A 1 248801538 248801538 G A snp 604.77 0/1 99 48 22 26 0.54 downstream rs769756693 OR2T35 AU 0 0 Uncertain 1_248801542_A->G 1 248801542 248801542 A G snp 643.77 0/1 99 50 21 29 0.58 downstream rs372631772 OR2T35 AU Uncertain 1_248801550_C->T 1 248801550 248801550 C T snp 691.77 0/1 99 53 22 31 0.58 downstream rs374446105 OR2T35 AU 0 0 Uncertain 1_248801556_C->T 1 248801556 248801556 C T snp 799.77 0/1 99 56 22 34 0.61 downstream rs79649486 OR2T35 AU 0.0004 0 Uncertain 1_248801566_T->G 1 248801566 248801566 T G snp 854.77 0/1 99 57 21 36 0.63 downstream rs74154510 OR2T35 AU 0.0372 . Uncertain 1_248801572_A->G 1 248801572 248801572 A G snp 251.77 0/1 99 58 37 21 0.36 downstream rs1782217 OR2T35 AU 0.291733 0.2679 0.0225 1 Uncertain 1_248801575_C->G 1 248801575 248801575 C G snp 251.77 0/1 99 58 37 21 0.36 downstream rs1770042 OR2T35 AU 0.269569 0.2669 0.0010 . Uncertain 1_248801592_C->T 1 248801592 248801592 C T snp 844.77 0/1 99 69 28 41 0.59 exonic rs78622116 OR2T35 AU nonsynonymous SNV NM_001001827 exon1 c.G968A p.G323D 0.0207 0.0312 0.05 T 0.0 P -1.105 T 0.0 T 0.0 T Pathogenic 1_248801602_-->CA 1 248801602 248801602 - CA indel 1453.73 0/1 99 43 7 36 0.84 exonic rs370874670 OR2T35 AU stopgain NM_001001827 exon1 c.957_958insTG p.I320_R321delinsX 0.0015 0 ID=COSM246232;OCCURENCE=1(prostate),1(large_intestine) Pathogenic 1_248801610_G->A 1 248801610 248801610 G A snp 831.77 0/1 99 71 32 39 0.55 exonic rs150878651 OR2T35 AU nonsynonymous SNV NM_001001827 exon1 c.C950T p.A317V 0.00339457 0.0055 0 0.33 T 1 N -0.924 T 0.0 T 0.0 T Pathogenic 1_248801611_C->T 1 248801611 248801611 C T snp 834.77 0/1 99 71 32 39 0.55 exonic rs143981271 OR2T35 AU nonsynonymous SNV NM_001001827 exon1 c.G949A p.A317T 0 0 0.58 T 1 N -0.893 T 0.005 T 0.005 T Pathogenic 1_248801633_A->G 1 248801633 248801633 A G snp 804.77 1/1 60 81 39 42 0.52 exonic rs74901534 OR2T35 AU synonymous SNV NM_001001827 exon1 c.T927C p.G309G 0.0147 0.0409 Uncertain 1_248801778_A->T 1 248801778 248801778 A T snp 710.78 1/1 26 166 106 60 0.36 exonic rs61834268 OR2T35 AU nonsynonymous SNV NM_001001827 exon1 c.T782A p.L261Q 0.580671 0.5913 0.6099 0.5348 0.28 T 0.139 P -1.009 T 1.0 D 0.998 D Pathogenic 1_248801945_CAGCACG->- 1 248801945 248801951 CAGCACG - indel 9697.73 1/1 99 117 0 117 1.0 exonic rs143010547 OR2T35 AU frameshift deletion NM_001001827 exon1 c.609_615del p.C203fs 0.6596 0.5525 ID=COSM1179048;OCCURENCE=3(prostate) Pathogenic 1_248802249_-->AGA 1 248802249 248802249 - AGA indel 226.87 1/1 15 7 0 7 1.0 exonic rs201931676 OR2T35 AU nonframeshift insertion NM_001001827 exon1 c.310_311insTCT p.Y104delinsFY 0.859425 0.9315 0.0059 0.0652 Uncertain 1_248813135_G->A 1 248813135 248813135 G A snp 336.78 1/1 27 11 0 11 1.0 downstream rs4916153 OR2T27 AU 0.714657 0.6567 Uncertain 1_248813547_G->C 1 248813547 248813547 G C snp 181.8 1/1 21 16 0 16 1.0 exonic rs201161767 OR2T27 AU synonymous SNV NM_001001824 exon1 c.C639G p.V213V 0.1797 0.1033 Uncertain 1_248813827_T->C 1 248813827 248813827 T C snp 209.8 1/1 21 27 0 27 1.0 exonic rs1782241 OR2T27 AU nonsynonymous SNV NM_001001824 exon1 c.A359G p.Y120C 0.2504 0.1957 0.03 T 0.004 P -1.014 T 0.984 D 0.875 D Pathogenic 1_248813901_A->T 1 248813901 248813901 A T snp 542.77 1/1 54 102 0 102 1.0 exonic rs144600224 OR2T27 AU synonymous SNV NM_001001824 exon1 c.T285A p.A95A 0.5772 0.72 Uncertain 1_248814052_T->A 1 248814052 248814052 T A snp 2197.77 0/1 99 172 59 113 0.66 exonic rs28533004 OR2T27 AU nonsynonymous SNV NM_001001824 exon1 c.A134T p.K45M 0.5445 0.5369 1 T 0.0 P -1.010 T 0.0 T 0.0 T Pathogenic 1_248814080_A->C 1 248814080 248814080 A C snp 3364.77 1/1 99 151 0 151 1.0 exonic rs1782242 OR2T27 AU nonsynonymous SNV NM_001001824 exon1 c.T106G p.L36V 0.944688 1 0.9839 1 0.24 T 0.0 P -1.066 T 0.0 T 0.004 T Pathogenic 1_248814126_G->A 1 248814126 248814126 G A snp 3417.77 1/1 99 137 0 137 1.0 exonic rs28418327 OR2T27 AU synonymous SNV NM_001001824 exon1 c.C60T p.N20N 0.5751 0.8414 Uncertain 1_248844959_T->C 1 248844959 248844959 T C snp 2154.77 0/1 99 174 91 83 0.48 exonic rs55871516 OR14I1 AU nonsynonymous SNV NM_001004734 exon1 c.A647G p.Y216C 0.132788 0.128 0.128095 0.1395 0.1701 0 D 0.711 P -1.124 T 1.0 D 1.0 D Pathogenic 1_248845097_C->T 1 248845097 248845097 C T snp 3185.74 0/1 99 250 128 122 0.49 exonic rs2000390 OR14I1 AU nonsynonymous SNV NM_001004734 exon1 c.G509A p.S170N 0.751797 0.872 0.750192 0.8262 0.8296 1 T 0.0 P -0.905 T 0.0 T 0.001 T Pathogenic 1_248845356_G->T 1 248845356 248845356 G T snp 1789.77 0/1 99 142 67 75 0.53 exonic rs41311583 OR14I1 AU nonsynonymous SNV NM_001004734 exon1 c.C250A p.L84M 0.131589 0.128 0.125711 0.1367 0.1713 0.02 T 0.0 P -1.014 T 0.897 T 0.666 P Pathogenic 1_248845411_G->A 1 248845411 248845411 G A snp 1511.77 0/1 99 150 82 68 0.45 exonic rs11485825 OR14I1 AU synonymous SNV NM_001004734 exon1 c.C195T p.S65S 0.773163 0.872 0.772720 0.8321 0.8307 Uncertain 1_248845458_C->T 1 248845458 248845458 C T snp 1510.77 0/1 99 141 72 69 0.49 exonic rs4509608 OR14I1 AU nonsynonymous SNV NM_001004734 exon1 c.G148A p.D50N 0.746406 0.872 0.740581 0.8264 0.8304 0.06 T 0.0 P -1.059 T 0.975 D 0.624 D Pathogenic 1_248845471_T->C 1 248845471 248845471 T C snp 3824.77 1/1 99 137 0 137 1.0 exonic rs4575113 OR14I1 AU synonymous SNV NM_001004734 exon1 c.A135G p.A45A 0.874002 1 0.863678 0.9610 1 Uncertain 1_248845499_A->G 1 248845499 248845499 A G snp 3396.77 1/1 99 122 0 122 1.0 exonic rs4462184 OR14I1 AU nonsynonymous SNV NM_001004734 exon1 c.T107C p.V36A 0.907149 1 0.901123 0.9721 0.9999 1 T 0.0 P -1.056 T 0.0 T 0.0 T Pathogenic 1_249110906_G->C 1 249110906 249110906 G C snp 1224.77 0/1 99 85 35 50 0.59 intronic rs4926508 SH3BP5L AU NM_030645 exon4 c.4763+45G>C 0.426518 0.3224 0.525834 0.5871 0.3484 Uncertain 2_45895_A->G 2 45895 45895 A G snp 1893.77 1/1 99 54 0 54 1.0 exonic rs4241318 FAM110C AU nonsynonymous SNV NM_001077710 exon1 c.T491C p.I164T 0.999201 1 0.997652 0.9952 1 0.74 T 0.0 P -0.980 T 0.0 T 0.0 T Pathogenic 2_224970_C->T 2 224970 224970 C T snp 378.77 0/1 99 42 23 19 0.45 intronic rs2290912 SH3YL1 AU NM_015677 exon2 c.6110+50C>T 0.595048 0.8313 0.625382 0.6503 0.8188 Uncertain 2_233416_G->A 2 233416 233416 G A snp 252.77 0/1 99 16 7 9 0.56 intronic rs300756 SH3YL1 AU NM_001159597 exon4 c.14419+187G>A 0.232827 0.0536 Uncertain 2_234130_T->G 2 234130 234130 T G snp 1174.77 0/1 99 112 63 49 0.44 intronic rs3748872 SH3YL1 AU NM_001159597 exon5 c.15349-29T>G 0.3127 0.5833 0.292745 0.3310 0.5877 Uncertain 2_242732_-->AAC 2 242732 242732 - AAC indel 1522.73 0/1 99 56 23 33 0.59 intronic rs113405432 SH3YL1 AU NM_001282682 exon6 c.23987-65insAAC Uncertain 2_242800_T->C 2 242800 242800 T C snp 1357.77 0/1 99 98 42 56 0.57 exonic rs10181051 SH3YL1 AU nonsynonymous SNV NM_001282682 exon6 c.A1G p.M1V 0.325479 0.5843 0.321670 0.3291 0.5723 0 D 1.0 P -0.975 T 0.011 T 0.043 T Pathogenic 2_243504_C->T 2 243504 243504 C T snp 764.77 0/1 99 100 66 34 0.34 UTR5 rs7556816 SH3YL1 AU 0.313299 0.5823 0.3079 0.5782 Uncertain 2_243567_-->A 2 243567 243567 - A indel 753.73 0/1 99 140 83 57 0.41 splicing rs11383620 SH3YL1 AU NM_001282682 exon7 c.24752+5insA 0.586262 0.7817 0.5279 0.7045 Pathogenic 2_262553_T->C 2 262553 262553 T C snp 1262.77 0/1 99 112 53 59 0.53 intronic rs7596678 SH3YL1 AU NM_001159597 exon9 c.45173-1430T>C 0.61262 0.8294 Uncertain 2_264895_G->C 2 264895 264895 G C snp 1641.77 1/1 99 58 0 58 1.0 UTR5 rs4854300 ACP1 AU 0.999002 1 0.999343 Uncertain 2_269352_G->A 2 269352 269352 G A snp 1095.77 0/1 99 97 51 46 0.47 intronic rs6755722 ACP1 AU NM_007099 exon2 c.6901-2513G>A 0.316494 0.5823 0.3074 0.5806 Uncertain 2_271998_-->A 2 271998 271998 - A indel 735.73 ./1 99 83 7 76 0.92 intronic rs34887991 ACP1 AU NM_004300 exon3 c.7072-38insA 0.167532 0.3343 0.2120 0.3428 Uncertain 2_271999_A->- 2 271999 271999 A - indel 735.73 ./1 99 83 7 76 0.92 intronic rs112400131 ACP1 AU NM_004300 exon3 c.7072-37delA 0.428514 0.2738 0.4154 0.2817 Uncertain 2_272840_G->A 2 272840 272840 G A snp 229.77 0/1 99 34 24 10 0.29 intronic rs12714401 ACP1 AU NM_001040649 exon3 c.7517+359G>A 0.598243 0.8313 Uncertain 2_272926_A->G 2 272926 272926 A G snp 1327.77 0/1 99 135 77 58 0.43 intronic rs12714402 ACP1 AU NM_001040649 exon3 c.7517+445A>G 0.598442 0.8313 Uncertain 2_273070_A->G 2 273070 273070 A G snp 2978.77 1/1 99 100 0 100 1.0 intronic rs12714403 ACP1 AU NM_001040649 exon3 c.7517+589A>G 0.921326 0.8849 Uncertain 2_275066_C->T 2 275066 275066 C T snp 31.77 0/1 60 24 19 5 0.21 intronic ACP1 AU NM_007099 exon4 c.10175-73C>T Uncertain 2_283229_G->A 2 283229 283229 G A snp 682.77 0/1 99 50 24 26 0.52 intronic rs543604426 FAM150B AU NM_001002919 exon2 c.3029+54G>A 0.0101837 0.0466 Uncertain 2_283231_-->T 2 283231 283231 - T indel 1225.73 1/1 90 50 1 49 0.98 intronic rs368562757 FAM150B AU NM_001002919 exon2 c.3029+56insT 0.920327 0.8849 Uncertain 2_675831_G->T 2 675831 675831 G T snp 344.77 0/1 99 29 16 13 0.45 intronic rs2293084 TMEM18 AU NM_152834 exon4 c.6051+201G>T 0.40635 0.4623 Uncertain 2_676177_C->G 2 676177 676177 C G snp 4047.77 1/1 99 143 1 142 0.99 intronic rs2293083 TMEM18 AU NM_152834 exon4 c.6051+547C>G 0.680911 0.8274 0.7143 0.8353 Uncertain 2_676457_G->C 2 676457 676457 G C snp 2561.77 1/1 99 85 0 85 1.0 intronic rs2293082 TMEM18 AU NM_152834 exon4 c.6051+827G>C 0.786741 0.8433 Uncertain 2_676478_-->GTAA 2 676478 676478 - GTAA indel 7703.73 1/1 99 110 0 110 1.0 intronic rs3215297 TMEM18 AU NM_152834 exon5 c.7709-810insGTAA 0.793331 0.8393 Uncertain 2_677213_G->A 2 677213 677213 G A snp 951.77 1/1 72 32 0 32 1.0 intronic rs3749138 TMEM18 AU NM_152834 exon5 c.7709-75G>A 0.804313 0.8433 Uncertain 2_1079130_G->A 2 1079130 1079130 G A snp 2748.77 1/1 99 86 0 86 1.0 intronic rs4971429 SNTG2 AU NM_018968 exon2 c.132521-73G>A 0.547724 0.6419 Uncertain 2_1079132_G->A 2 1079132 1079132 G A snp 2833.77 1/1 99 89 1 88 0.99 intronic rs4971430 SNTG2 AU NM_018968 exon2 c.132521-71G>A 0.548123 0.6419 Uncertain 2_1079143_A->G 2 1079143 1079143 A G snp 3263.77 1/1 99 106 0 106 1.0 intronic rs4971431 SNTG2 AU NM_018968 exon2 c.132521-60A>G 0.757188 0.7222 Uncertain 2_1079320_C->T 2 1079320 1079320 C T snp 4497.77 1/1 99 161 0 161 1.0 exonic rs4971432 SNTG2 AU synonymous SNV NM_018968 exon2 c.C189T p.G63G 0.669129 0.6796 0.725260 0.7349 0.6906 Uncertain 2_1168756_G->A 2 1168756 1168756 G A snp 1918.77 1/1 99 73 0 73 1.0 intronic rs4597564 SNTG2 AU NM_018968 exon8 c.222095-21G>A 0.372404 0.631 0.270555 0.3497 0.6628 Uncertain 2_1204848_G->A 2 1204848 1204848 G A snp 1267.77 0/1 99 118 65 53 0.45 exonic SNTG2 AU synonymous SNV NM_018968 exon9 c.G651A p.L217L Uncertain 2_1241592_C->T 2 1241592 1241592 C T snp 816.77 1/1 60 22 0 22 1.0 intronic rs146197111 SNTG2 AU NM_018968 exon10 c.294977-67C>T 0.999401 1 Uncertain 2_1418192_C->G 2 1418192 1418192 C G snp 993.77 0/1 99 87 43 44 0.51 exonic rs9678281 TPO AR synonymous SNV NM_000547 exon2 c.C12G p.L4L 0.311701 0.2361 0.355298 0.3691 0.2012 Uncertain 2_1426621_A->G 2 1426621 1426621 A G snp 214.84 1/1 18 7 0 7 1.0 intronic rs2276702 TPO AR NM_001206744 exon3 c.8636-195A>G 0.520966 0.5526 Uncertain 2_1437410_C->T 2 1437410 1437410 C T snp 1933.77 1/1 99 64 0 64 1.0 intronic rs4927578 TPO AR NM_001206744 exon4 c.19199+31C>T 0.4373 0.6151 0.495540 0.5671 0.6650 Uncertain 2_1457364_A->G 2 1457364 1457364 A G snp 4865.77 1/1 99 169 0 169 1.0 intronic rs2070881 TPO AR NM_001206744 exon6 c.39285-101A>G 0.927716 0.9613 Uncertain 2_1459806_A->G 2 1459806 1459806 A G snp 931.77 1/1 69 27 0 27 1.0 intronic rs4927610 TPO AR NM_001206744 exon7 c.41667-41A>G 0.935304 0.9613 0.928385 0.9465 0.9597 Uncertain 2_1460220_C->T 2 1460220 1460220 C T snp 50.74 1/1 6 2 0 2 1.0 intronic rs11694726 TPO AR NM_001206744 exon7 c.41874+166C>T 0.0876597 0.1448 0.067893 ID=COSN166001;OCCURENCE=1(breast) Uncertain 2_1481231_G->C 2 1481231 1481231 G C snp 1034.77 1/1 75 40 0 40 1.0 exonic rs2175977 TPO AR nonsynonymous SNV NM_000547 exon8 c.G1193C p.S398T 0.710264 0.7758 0.781629 0.6400 0.8718 0.1 T 1.0 P -0.999 T 0.999 D 0.965 D Pathogenic 2_1488668_T->C 2 1488668 1488668 T C snp 543.77 1/1 42 14 0 14 1.0 intronic rs6715129 TPO AR NM_001206744 exon9 c.70446+42T>C 0.597045 0.4901 0.550631 0.5173 0.5142 Uncertain 2_1491381_C->A 2 1491381 1491381 C A snp 50.74 1/1 6 2 0 2 1.0 intronic rs6714887 TPO AR NM_001206744 exon10 c.73412-211C>A 0.576278 0.4831 Uncertain 2_1491497_T->C 2 1491497 1491497 T C snp 1197.77 1/1 87 43 0 43 1.0 intronic rs6727192 TPO AR NM_001206744 exon10 c.73412-95T>C 0.576278 0.4831 Uncertain 2_1491511_A->- 2 1491511 1491511 A - indel 1369.73 1/1 99 60 1 59 0.98 intronic rs72230434 TPO AR NM_001206744 exon10 c.73412-81delA Uncertain 2_1497442_A->G 2 1497442 1497442 A G snp 2013.77 1/1 99 66 0 66 1.0 intronic rs9679267 TPO AR NM_001206744 exon11 c.79393-131A>G 0.577875 0.5149 Uncertain 2_1497803_C->T 2 1497803 1497803 C T snp 4849.77 1/1 99 173 0 173 1.0 exonic rs1126797 TPO AR synonymous SNV NM_000547 exon11 c.C1998T p.D666D 0.359026 0.4067 0.350531 0.3630 0.4090 1.000 P -1.037 T Likely benign 2_1499899_C->T 2 1499899 1499899 C T snp 2645.77 1/1 99 96 0 96 1.0 exonic rs732608 TPO AR synonymous SNV NM_000547 exon12 c.C2145T p.P715P 0.438898 0.4087 0.413040 0.4109 0.4035 0 D 1.000 P -0.999 T Likely benign 2_1499927_A->C 2 1499927 1499927 A C snp 2531.77 1/1 99 93 0 93 1.0 exonic rs732609 TPO AR nonsynonymous SNV NM_000547 exon12 c.A2173C p.T725P 0.498403 0.4087 0.470321 0.4280 0.4065 1 T 1.0 P -0.913 T 0.0 T 0.0 T ID=CM141568;DIS=Hypothyroidism, association with;TAG=DFP;PUB=24420335 DFP Pathogenic 2_1500665_C->T 2 1500665 1500665 C T snp 174.9 1/1 15 6 0 6 1.0 intronic rs867983 TPO AR NM_001206744 exon13 c.82357+128C>T 0.519169 0.501 Uncertain 2_1520676_T->C 2 1520676 1520676 T C snp 3011.77 1/1 99 100 0 100 1.0 exonic rs1126799 TPO AR nonsynonymous SNV NM_000547 exon15 c.T2540C p.V847A 0.663938 0.5833 0.613255 0.5898 0.5873 1 T 0.007 P -1.008 T 0.0 T 0.001 T Pathogenic 2_1544617_G->A 2 1544617 1544617 G A snp 4552.77 1/1 99 162 1 161 0.99 intronic rs12615819 TPO AR NM_001206744 exon16 c.126315+122G>A 0.337859 0.3224 0.4102 0.4017 0.0 P -1.000 T Uncertain 2_1642537_T->C 2 1642537 1642537 T C snp 391.77 1/1 30 11 0 11 1.0 intronic rs6729142 PXDN AR NM_012293 exon3 c.4642-80T>C 0.878195 0.999 Uncertain 2_1642539_C->T 2 1642539 1642539 C T snp 392.77 1/1 30 12 0 12 1.0 intronic rs6742040 PXDN AR NM_012293 exon3 c.4642-78C>T 0.874401 0.999 Uncertain 2_1642545_C->G 2 1642545 1642545 C G snp 522.77 1/1 39 17 0 17 1.0 intronic rs6742039 PXDN AR NM_012293 exon3 c.4642-72C>G 0.878195 0.999 Uncertain 2_1647171_T->C 2 1647171 1647171 T C snp 3835.77 1/1 99 144 1 143 0.99 exonic rs6730800 PXDN AR synonymous SNV NM_012293 exon19 c.A3921G p.V1307V 0.907748 0.999 0.863442 0.9088 0.9999 Uncertain 2_1652822_T->G 2 1652822 1652822 T G snp 4012.77 1/1 99 139 0 139 1.0 exonic rs1863135 PXDN AR synonymous SNV NM_012293 exon17 c.A2730C p.I910I 0.935503 0.999 0.899146 0.9176 0.9996 Uncertain 2_1664654_A->G 2 1664654 1664654 A G snp 1422.77 1/1 99 38 0 38 1.0 exonic rs17841813 PXDN AR synonymous SNV NM_012293 exon14 c.T1836C p.N612N 0.810903 0.9752 0.713489 0.7560 0.9799 1.0 P -1.028 T Likely benign 2_1667310_G->A 2 1667310 1667310 G A snp 2740.77 1/1 99 100 0 100 1.0 intronic rs12475392 PXDN AR NM_012293 exon12 c.29401-66G>A 0.852835 0.9782 Uncertain 2_1687662_C->T 2 1687662 1687662 C T snp 128.77 0/1 99 15 10 5 0.33 intronic PXDN AR NM_012293 exon18 c.49524+163C>T Uncertain 2_1687663_C->T 2 1687663 1687663 C T snp 54.77 0/1 83 15 10 5 0.33 intronic PXDN AR NM_012293 exon18 c.49524+164C>T Uncertain 2_1687665_G->T 2 1687665 1687665 G T snp 118.77 0/1 99 16 10 6 0.38 intronic PXDN AR NM_012293 exon18 c.49524+166G>T Uncertain 2_1691246_C->T 2 1691246 1691246 C T snp 159.9 1/1 15 5 0 5 1.0 intronic rs2278114 PXDN AR NM_012293 exon20 c.53428-157C>T 0.0896565 0.3046 Uncertain 2_1696016_G->A 2 1696016 1696016 G A snp 114.77 0/1 60 6 2 4 0.67 intronic rs2288183 PXDN AR NM_012293 exon21 c.57796+245G>A 0.594449 0.3532 Uncertain 2_1747993_G->A 2 1747993 1747993 G A snp 316.77 0/1 99 34 19 15 0.44 intronic rs62116430 PXDN AR NM_012293 exon23 c.110052-34G>A 0.407149 0.5595 0.3577 0.5729 Uncertain 2_1805430_G->A 2 1805430 1805430 G A snp 1910.77 0/1 99 163 78 85 0.52 intronic rs2288178 MYT1L AD NM_001303052 exon3 c.9829-37G>A 0.0591054 0.0754 0.031350 0.0597 0.0824 Uncertain 2_1805489_A->G 2 1805489 1805489 A G snp 1635.77 0/1 99 136 67 69 0.51 exonic rs2288179 MYT1L AD synonymous SNV NM_015025 exon23 c.T3249C p.D1083D 0.061901 0.0754 0.033880 0.0601 0.0823 Uncertain 2_1842848_G->A 2 1842848 1842848 G A snp 35.77 0/1 64 4 2 2 0.5 intronic rs182401539 MYT1L AD NM_001303052 exon5 c.47282-72G>A 0.000399361 Uncertain 2_1842968_T->C 2 1842968 1842968 T C snp 2285.77 0/1 99 196 91 105 0.54 exonic rs6728368 MYT1L AD synonymous SNV NM_015025 exon21 c.A3027G p.G1009G 0.456669 0.6558 0.431399 0.3670 0.6561 Uncertain 2_1843285_A->G 2 1843285 1843285 A G snp 46.77 0/1 33 3 1 2 0.67 intronic rs10196494 MYT1L AD NM_001303052 exon5 c.47504+143A>G 0.540735 0.6637 Uncertain 2_1844458_T->C 2 1844458 1844458 T C snp 684.77 0/1 99 58 30 28 0.48 intronic rs4381806 MYT1L AD NM_001303052 exon6 c.48893-73T>C 0.540735 0.6637 Uncertain 2_1844652_C->T 2 1844652 1844652 C T snp 695.77 0/1 99 60 35 25 0.42 intronic rs7425544 MYT1L AD NM_001303052 exon6 c.48977+37C>T 0.491613 0.6637 0.385453 0.4035 0.6893 Uncertain 2_1844676_C->T 2 1844676 1844676 C T snp 197.77 0/1 99 27 17 10 0.37 intronic rs7425542 MYT1L AD NM_001303052 exon6 c.48977+61C>T 0.637979 0.6925 Uncertain 2_1890173_A->G 2 1890173 1890173 A G snp 43.77 0/1 72 4 2 2 0.5 intronic rs4853824 MYT1L AD NM_001303052 exon8 c.94672-137A>G 0.374401 0.4792 Uncertain 2_1893133_C->T 2 1893133 1893133 C T snp 1003.77 0/1 99 101 57 44 0.44 exonic rs75247762 MYT1L AD synonymous SNV NM_015025 exon16 c.G2394A p.Q798Q 0.0640974 0.1994 0.038765 0.0562 0.1897 Uncertain 2_1925926_G->A 2 1925926 1925926 G A snp 120.77 0/1 64 6 2 4 0.67 intronic rs117642653 MYT1L AD NM_001303052 exon16 c.130419-131G>A 0.00519169 0.0258 Uncertain 2_1926437_G->T 2 1926437 1926437 G T snp 6678.77 1/1 99 233 1 232 1.0 exonic rs1529667 MYT1L AD synonymous SNV NM_015025 exon10 c.C1104A p.P368P 0.991214 1 0.976929 0.9802 1 Uncertain 2_1946646_A->C 2 1946646 1946646 A C snp 6818.77 1/1 99 250 1 249 1.0 intronic rs7355555 MYT1L AD NM_001303052 exon17 c.151115-107A>C 0.433107 0.6448 Uncertain 2_1946914_A->G 2 1946914 1946914 A G snp 2969.77 1/1 99 110 0 110 1.0 exonic rs3748988 MYT1L AD synonymous SNV NM_015025 exon9 c.T345C p.D115D 0.510783 0.6448 0.425081 0.4054 0.6726 Uncertain 2_1982916_A->- 2 1982916 1982916 A - indel 2423.73 0/1 99 162 65 97 0.6 intronic rs3214602 MYT1L AD NM_001303052 exon18 c.187298-20delA 0.221046 0.1042 0.1868 0.1687 Uncertain 2_1983374_A->C 2 1983374 1983374 A C snp 1450.77 0/1 99 134 76 58 0.43 intronic rs2304008 MYT1L AD NM_001303052 exon19 c.187688+48A>C 0.464058 0.4752 0.405255 0.3254 0.4697 Uncertain 2_1983619_A->G 2 1983619 1983619 A G snp 860.77 0/1 99 70 31 39 0.56 intronic rs7561518 MYT1L AD NM_001303052 exon20 c.187911+70A>G 0.47524 0.4762 0.436487 Uncertain 2_3212247_G->T 2 3212247 3212247 G T snp 2451.77 1/1 99 72 0 72 1.0 intronic rs7584823 TSSC1 AU NM_003310 exon5 c.24815-5672G>T 0.672125 0.7837 Uncertain 2_3212704_C->A 2 3212704 3212704 C A snp 776.77 0/1 99 76 42 34 0.45 intronic rs7595702 TSSC1 AU NM_003310 exon5 c.24815-5215C>A 0.51278 0.6845 0.4563 0.6872 0.02 T 1.000 P Uncertain 2_3217768_C->T 2 3217768 3217768 C T snp 50.77 0/1 79 16 13 3 0.19 intronic rs538336473 TSSC1 AU NM_003310 exon5 c.24815-151C>T 0.000798722 0.004 Uncertain 2_3217777_A->C 2 3217777 3217777 A C snp 837.77 1/1 63 22 0 22 1.0 intronic rs11127386 TSSC1 AU NM_003310 exon5 c.24815-142A>C 0.911142 0.9752 Uncertain 2_3217794_T->C 2 3217794 3217794 T C snp 1189.77 1/1 87 33 0 33 1.0 intronic rs10865535 TSSC1 AU NM_003310 exon5 c.24815-125T>C 0.911142 0.9752 Uncertain 2_3217908_G->C 2 3217908 3217908 G C snp 5051.77 1/1 99 179 0 179 1.0 intronic rs11682452 TSSC1 AU NM_003310 exon5 c.24815-11G>C 0.920727 0.9752 0.916885 0.9417 0.9709 Uncertain 2_3277947_T->A 2 3277947 3277947 T A snp 553.77 1/1 42 15 0 15 1.0 intronic rs2694081 TSSC1 AU NM_003310 exon6 c.68122+16721T>A 0.638379 0.752 Uncertain 2_3322797_C->A 2 3322797 3322797 C A snp 2427.77 1/1 99 86 1 85 0.99 intronic rs12618407 TSSC1 AU NM_003310 exon7 c.148683-18990C>A 0.573083 0.8234 Uncertain 2_3322905_A->G 2 3322905 3322905 A G snp 224.84 1/1 18 6 0 6 1.0 intronic rs34135516 TSSC1 AU NM_003310 exon7 c.148683-18882A>G 0.573083 0.8234 Uncertain 2_3322907_A->G 2 3322907 3322907 A G snp 224.84 1/1 18 6 0 6 1.0 intronic rs9309705 TSSC1 AU NM_003310 exon7 c.148683-18880A>G 0.997804 1 Uncertain 2_3322909_T->C 2 3322909 3322909 T C snp 224.84 1/1 18 6 0 6 1.0 intronic rs34071056 TSSC1 AU NM_003310 exon7 c.148683-18878T>C 0.411142 0.6419 Uncertain 2_3342009_T->C 2 3342009 3342009 T C snp 370.77 1/1 30 10 0 10 1.0 intronic rs3811617 TSSC1 AU NM_003310 exon7 c.148816+89T>C 0.602436 0.8036 Uncertain 2_3356953_A->T 2 3356953 3356953 A T snp 3967.77 1/1 99 162 0 162 1.0 intronic rs2875394 TSSC1 AU NM_003310 exon8 c.165216-1367A>T 0.997604 1 0.9951 1 Uncertain 2_3358459_TTATGAAGTTAGAT->- 2 3358459 3358472 TTATGAAGTTAGAT - indel 11383.7 1/1 99 97 0 97 1.0 intronic rs11269308 TSSC1 AU NM_003310 exon8 c.165300+55_165300+68delTTATGAAGTTAGAT 0.996406 1 0.989652 Uncertain 2_3391826_C->T 2 3391826 3391826 C T snp 433.77 0/1 99 55 33 22 0.4 exonic rs11127423 TRAPPC12 AU synonymous SNV NM_016030 exon2 c.C432T p.A144A 0.305112 0.4048 0.3771 0.4368 Uncertain 2_3392075_T->C 2 3392075 3392075 T C snp 7127.77 1/1 99 249 1 248 1.0 exonic rs10865541 TRAPPC12 AU synonymous SNV NM_016030 exon2 c.T681C p.F227F 0.653754 0.6806 0.621252 0.6030 0.7159 Uncertain 2_3392295_A->G 2 3392295 3392295 A G snp 5651.77 1/1 99 209 0 209 1.0 exonic rs11686212 TRAPPC12 AU nonsynonymous SNV NM_016030 exon2 c.A901G p.S301G 0.467851 0.6081 0.387206 0.4144 0.6491 0.02 T 1.000 P -0.854 T 0.998 D 0.969 D Pathogenic 2_3392513_T->C 2 3392513 3392513 T C snp 6265.77 1/1 99 230 0 230 1.0 intronic rs12999423 TRAPPC12 AU NM_016030 exon2 c.1047+72T>C 0.653754 0.6796 Uncertain 2_3392514_T->A 2 3392514 3392514 T A snp 6081.77 1/1 99 231 0 231 1.0 intronic rs12999424 TRAPPC12 AU NM_016030 exon2 c.1047+73T>A 0.654553 0.6815 Uncertain 2_3393565_-->AA 2 3393565 3393565 - AA indel 4081.73 1/1 99 75 0 75 1.0 intronic rs71396985 TRAPPC12 AU NM_016030 exon2 c.1047+1124insAA 0.504992 0.6696 0.4998 0.7016 Uncertain 2_3405768_T->C 2 3405768 3405768 T C snp 203.77 0/1 99 20 13 7 0.35 intronic rs80157314 TRAPPC12 AU NM_016030 exon3 c.14270+104T>C 0.0547125 0.1935 Uncertain 2_3425514_G->C 2 3425514 3425514 G C snp 4799.77 1/1 99 176 0 176 1.0 intronic rs7558487 TRAPPC12 AU NM_016030 exon4 c.34257-137G>C 0.676518 0.6379 0.6653 0.6934 Uncertain 2_3425729_C->T 2 3425729 3425729 C T snp 693.77 0/1 99 69 39 30 0.43 exonic rs1132171 TRAPPC12 AU synonymous SNV NM_016030 exon4 c.C1242T p.S414S 0.108826 0.2897 0.006151 0.0635 0.3151 1.000 P -1.043 T Likely benign 2_3425948_T->C 2 3425948 3425948 T C snp 222.84 1/1 18 7 0 7 1.0 intronic rs10206964 TRAPPC12 AU NM_016030 exon4 c.34371+183T>C 0.676118 0.6379 Uncertain 2_3428510_G->A 2 3428510 3428510 G A snp 493.77 0/1 99 44 24 20 0.45 intronic rs80212000 TRAPPC12 AU NM_016030 exon5 c.37040+76G>A 0.0547125 0.1865 Uncertain 2_3460870_T->C 2 3460870 3460870 T C snp 203.84 1/1 18 6 0 6 1.0 intronic rs7579428 TRAPPC12 AU NM_016030 exon7 c.69997-521T>C 0.607228 0.5069 Uncertain 2_3469278_C->G 2 3469278 3469278 C G snp 246.77 0/1 99 31 20 11 0.35 intronic rs4971513 TRAPPC12 AU NM_016030 exon9 c.77973-89C>G 0.326078 0.3452 Uncertain 2_3469463_G->C 2 3469463 3469463 G C snp 594.77 0/1 99 60 33 27 0.45 exonic rs4971514 TRAPPC12 AU synonymous SNV NM_016030 exon9 c.G1773C p.L591L 0.415335 0.3601 0.429955 0.4017 0.3752 1.0 P -0.990 T Likely benign 2_3470115_T->C 2 3470115 3470115 T C snp 1932.77 0/1 99 158 70 88 0.56 intronic rs7593516 TRAPPC12 AU NM_016030 exon9 c.78072+649T>C 0.529952 0.3988 0.4333 0.4218 0.000 P -1.026 T Uncertain 2_3470124_G->A 2 3470124 3470124 G A snp 2077.77 0/1 99 157 72 85 0.54 intronic rs7574517 TRAPPC12 AU NM_016030 exon9 c.78072+658G>A 0.411342 0.3562 0.3946 0.3704 0.000 P -0.917 T Uncertain 2_3470186_G->C 2 3470186 3470186 G C snp 1669.77 0/1 99 137 70 67 0.49 intronic rs11691759 TRAPPC12 AU NM_016030 exon9 c.78072+720G>C 0.419928 0.375 0.4011 0.3951 Uncertain 2_3470254_T->G 2 3470254 3470254 T G snp 2191.77 1/1 99 79 1 78 0.99 intronic rs11677515 TRAPPC12 AU NM_016030 exon9 c.78072+788T>G 0.528155 0.4554 Uncertain 2_3481637_T->C 2 3481637 3481637 T C snp 2123.77 1/1 99 78 0 78 1.0 intronic rs4535074 TRAPPC12 AU NM_016030 exon10 c.90172+71T>C 0.487819 0.4673 Uncertain 2_3481659_G->A 2 3481659 3481659 G A snp 1985.77 1/1 99 73 0 73 1.0 intronic rs4321399 TRAPPC12 AU NM_016030 exon10 c.90172+93G>A 0.430312 0.4653 Uncertain 2_3481716_T->C 2 3481716 3481716 T C snp 1048.77 1/1 75 37 0 37 1.0 intronic rs4535075 TRAPPC12 AU NM_016030 exon10 c.90172+150T>C 0.48742 0.4673 Uncertain 2_3482598_A->T 2 3482598 3482598 A T snp 350.77 0/1 99 45 29 16 0.36 intronic rs73910563 TRAPPC12 AU NM_016030 exon11 c.91222-18A>T 0.0591054 0.0784 0.024912 0.0305 0.0787 Uncertain 2_3482796_T->G 2 3482796 3482796 T G snp 1052.77 1/1 78 38 0 38 1.0 intronic rs11890651 TRAPPC12 AU NM_016030 exon11 c.91310+92T>G 0.361821 0.4593 Uncertain 2_3482912_G->A 2 3482912 3482912 G A snp 138.77 0/1 99 15 9 6 0.4 intronic rs13431788 TRAPPC12 AU NM_016030 exon12 c.91595-77G>A 0.288538 0.38 Uncertain 2_3483205_C->T 2 3483205 3483205 C T snp 3926.77 1/1 99 138 1 137 0.99 exonic rs6767 TRAPPC12 AU synonymous SNV NM_016030 exon12 c.C2181T p.F727F 0.485423 0.4653 0.445333 0.4213 0.4900 1.000 P Uncertain 2_3483390_T->G 2 3483390 3483390 T G snp 401.77 1/1 30 14 0 14 1.0 downstream rs7569694 TRAPPC12 AU 0.485423 0.4653 Uncertain 2_3488502_A->G 2 3488502 3488502 A G snp 4962.77 1/1 99 188 0 188 1.0 intergenic rs9752130 TRAPPC12 AU 0.585863 0.5506 0.4992 0.5542 0 D 0.0 P -0.985 T Uncertain 2_3502625_T->C 2 3502625 3502625 T C snp 44.77 0/1 33 3 1 2 0.67 UTR3 rs1130127 ADI1 AU 0.342652 0.2242 Uncertain 2_3502709_A->G 2 3502709 3502709 A G snp 295.77 0/1 99 34 23 11 0.32 UTR3 rs10208494 ADI1 AU 0.343051 0.2272 0.303168 0.2255 0.1941 Uncertain 2_3502909_-->CTT 2 3502909 3502909 - CTT indel 6775.73 1/1 99 119 0 119 1.0 intronic rs10627319 ADI1 AU NM_018269 exon1 c.120+56insCTT 0.542732 0.4871 Uncertain 2_3502910_G->T 2 3502910 3502910 G T snp 2881.77 1/1 99 100 0 100 1.0 intronic rs58219575 ADI1 AU NM_018269 exon1 c.120+57G>T 0.542732 0.4871 Uncertain 2_3502932_G->A 2 3502932 3502932 G A snp 845.77 0/1 99 83 44 39 0.47 intronic rs10194787 ADI1 AU NM_018269 exon1 c.120+79G>A 0.342851 0.2242 Uncertain 2_3504291_TGTACCTGCCGCCGCA->- 2 3504291 3504306 TGTACCTGCCGCCGCA - indel 6829.73 1/1 99 39 0 39 1.0 intronic rs6146601 ADI1 AU NM_018269 exon2 c.1851-293_1851-278delTGTACCTGCCGCCGCA 0.568291 0.4901 Uncertain 2_3504548_A->G 2 3504548 3504548 A G snp 1896.77 0/1 99 159 79 80 0.5 intronic rs116562960 ADI1 AU NM_018269 exon2 c.1851-36A>G 0.033147 0.0407 0.012148 0.0209 0.0503 0 D 1 N -1.004 T Uncertain 2_3504687_A->G 2 3504687 3504687 A G snp 2973.77 0/1 99 230 106 124 0.54 exonic rs9950 ADI1 AU synonymous SNV NM_018269 exon3 c.T318C p.D106D 0.533546 0.4484 0.506843 0.4086 0.4316 Uncertain 2_3504777_G->T 2 3504777 3504777 G T snp 1593.77 0/1 99 135 68 67 0.5 intronic rs76414067 ADI1 AU NM_018269 exon2 c.2031+13G>T 0.0313498 0.0407 0.011149 0.0242 0.0729 Uncertain 2_3504819_A->G 2 3504819 3504819 A G snp 979.77 0/1 99 70 32 38 0.54 intronic rs34240449 ADI1 AU NM_018269 exon2 c.2031+55A>G 0.535743 0.4246 Uncertain 2_3504893_-->A 2 3504893 3504893 - A indel 238.73 0/1 99 13 5 8 0.62 intronic rs35008570 ADI1 AU NM_018269 exon2 c.2031+129insA 0.525559 0.4236 Uncertain 2_3518417_T->C 2 3518417 3518417 T C snp 747.77 0/1 99 47 21 26 0.55 intronic rs78497022 ADI1 AU NM_018269 exon3 c.15014+670T>C 0.0279553 0.0407 Uncertain 2_3518643_T->C 2 3518643 3518643 T C snp 475.77 0/1 99 29 13 16 0.55 intronic rs7566663 ADI1 AU NM_018269 exon3 c.15014+896T>C 0.240016 0.2788 0.2216 0.2878 0.03 T 0.0 P -1.000 T Uncertain 2_3523324_A->G 2 3523324 3523324 A G snp 707.77 0/1 99 61 28 33 0.54 UTR5 rs10179340 ADI1 AU 0.745407 0.8175 Uncertain 2_3579760_T->C 2 3579760 3579760 T C snp 1241.77 0/1 99 107 59 48 0.45 intergenic rs1071625 ADI1 AU 0.3752 0.2371 Uncertain 2_3595834_C->A 2 3595834 3595834 C A snp 448.77 0/1 99 27 12 15 0.56 intronic rs13002108 RNASEH1 AR NM_002936 exon2 c.2271+189C>A 0.166134 0.1726 Uncertain 2_3597974_T->C 2 3597974 3597974 T C snp 466.77 0/1 99 19 5 14 0.74 exonic rs10186193 RNASEH1 AR synonymous SNV NM_002936 exon4 c.A498G p.P166P 0.375599 0.2371 0.444487 0.3410 0.2693 Uncertain 2_3599700_G->T 2 3599700 3599700 G T snp 41.74 1/1 6 2 0 2 1.0 intronic rs7563960 RNASEH1 AR NM_002936 exon6 c.6359-33G>T 0.632588 0.4206 0.714516 0.6131 0.4272 Uncertain 2_3605468_A->G 2 3605468 3605468 A G snp 1793.77 0/1 99 184 104 80 0.43 intronic rs12711976 RNASEH1 AR NM_001286837 exon8 c.12110-16A>G 0.691893 0.8075 0.7114 0.8148 Uncertain 2_3605978_A->G 2 3605978 3605978 A G snp 37.77 0/1 66 6 4 2 0.33 ncRNA_exonic rs28384453 RNASEH1-AS1 AU 0.0453275 0.0536 Uncertain 2_3623540_A->G 2 3623540 3623540 A G snp 59.74 1/1 6 3 0 3 1.0 intronic rs3087873 RPS7 AU NM_001011 exon3 c.279+62A>G 0.835264 0.9851 0.748576 Uncertain 2_3624051_C->A 2 3624051 3624051 C A snp 77.77 0/1 99 6 3 3 0.5 intronic rs62106034 RPS7 AU NM_001011 exon4 c.877-25C>A 0.0593051 0.0575 0.057663 0.0648 0.0606 Uncertain 2_3624303_G->A 2 3624303 3624303 G A snp 2654.77 0/1 99 221 110 111 0.5 intronic rs80103345 RPS7 AU NM_001011 exon4 c.1021+83G>A 0.0571086 0.0575 0.0633 0.0610 Uncertain 2_3627648_G->C 2 3627648 3627648 G C snp 2598.77 1/1 99 93 0 93 1.0 intronic rs7576238 RPS7 AU NM_001011 exon6 c.4500-51G>C 0.902556 0.997 0.818451 Uncertain 2_3652616_G->C 2 3652616 3652616 G C snp 822.77 0/1 99 84 43 41 0.49 intronic rs3769507 COLEC11 AR NM_024027 exon2 c.130+556G>C 0.728035 0.8393 0.7289 0.8642 Uncertain 2_3653576_A->G 2 3653576 3653576 A G snp 213.77 0/1 99 20 12 8 0.4 intronic rs7604806 COLEC11 AR NM_024027 exon2 c.130+1516A>G 0.663938 0.8135 Uncertain 2_3653844_T->C 2 3653844 3653844 T C snp 703.77 0/1 99 85 53 32 0.38 intronic rs3739147 COLEC11 AR NM_001255986 exon1 c.52+11T>C 0.751198 0.8274 0.7827 0.8525 Uncertain 2_3660752_T->C 2 3660752 3660752 T C snp 344.77 0/1 99 24 11 13 0.54 intronic rs3811531 COLEC11 AR NM_024027 exon3 c.8970-148T>C 0.575879 0.6875 Uncertain 2_3673648_G->A 2 3673648 3673648 G A snp 2448.77 0/1 99 245 139 106 0.43 intronic rs10170348 COLEC11 AR NM_199235 exon4 c.21664-34G>A 0.119209 0.3115 0.107950 0.1272 0.3289 Uncertain 2_3685046_T->C 2 3685046 3685046 T C snp 1322.77 1/1 96 41 0 41 1.0 intronic rs3811528 COLEC11 AR NM_024027 exon4 c.33192-76T>C 0.852037 0.878 Uncertain 2_3685074_A->G 2 3685074 3685074 A G snp 1951.77 1/1 99 63 0 63 1.0 intronic rs3811527 COLEC11 AR NM_024027 exon4 c.33192-48A>G 0.852436 0.878 0.813394 0.7952 0.8849 Uncertain 2_3691534_C->T 2 3691534 3691534 C T snp 3855.77 0/1 99 250 117 133 0.53 exonic rs200901540 COLEC11 AR synonymous SNV NM_024027 exon7 c.C642T p.F214F 0.000199681 0.001 3.304e-05 0.0005 ID=COSM1020609,COSM1020608;OCCURENCE=1(endometrium) Uncertain 2_3718646_G->A 2 3718646 3718646 G A snp 286.77 0/1 99 22 12 10 0.45 intronic rs60644898 ALLC AU 0.183906 0.0456 Uncertain 2_3718655_A->G 2 3718655 3718655 A G snp 280.77 0/1 99 27 15 12 0.44 intronic rs59726279 ALLC AU 0.183906 0.0456 Uncertain 2_3718692_C->T 2 3718692 3718692 C T snp 576.77 0/1 99 55 33 22 0.4 UTR5 rs13409104 ALLC AU 0.345447 0.2976 0.422032 Uncertain 2_3718985_A->G 2 3718985 3718985 A G snp 34.77 0/1 63 7 5 2 0.29 intronic rs34086816 ALLC AU NM_018436 exon2 c.33+205A>G 0.345847 0.2996 Uncertain 2_3721632_G->A 2 3721632 3721632 G A snp 279.77 0/1 99 22 8 14 0.64 intronic rs13390724 ALLC AU NM_018436 exon3 c.2917-32G>A 0.336262 0.2986 0.384722 0.3555 0.3366 Uncertain 2_3721638_TCTT->- 2 3721638 3721641 TCTT - indel 677.73 0/1 99 23 9 14 0.61 intronic rs150631803 ALLC AU NM_018436 exon3 c.2917-26_2917-23delTCTT 0.183906 0.0456 0.2225 0.0593 Uncertain 2_3721729_A->G 2 3721729 3721729 A G snp 552.77 0/1 99 61 34 27 0.44 intronic rs12105179 ALLC AU NM_018436 exon3 c.2968+14A>G 0.508986 0.3214 0.598179 0.5138 0.4323 Uncertain 2_3721821_A->G 2 3721821 3721821 A G snp 229.77 0/1 99 42 31 11 0.26 intronic rs13406032 ALLC AU NM_018436 exon3 c.2968+106A>G 0.184105 0.0456 Uncertain 2_3725964_C->T 2 3725964 3725964 C T snp 947.77 1/1 69 29 0 29 1.0 intronic rs72769388 ALLC AU NM_018436 exon4 c.7310-93C>T 0.173123 0.2371 Uncertain 2_3726163_T->C 2 3726163 3726163 T C snp 1723.77 1/1 99 62 0 62 1.0 intronic rs2043080 ALLC AU NM_018436 exon4 c.7398+18T>C 0.451877 0.375 0.546580 0.4499 0.4196 Uncertain 2_3749084_T->C 2 3749084 3749084 T C snp 4147.77 1/1 99 156 0 156 1.0 intronic rs11689171 ALLC AU NM_018436 exon11 c.30354-17T>C 0.294728 0.2411 0.344521 0.3834 0.3139 Uncertain 2_3749152_GAA->- 2 3749152 3749154 GAA - indel 7228.73 1/1 99 141 0 141 1.0 exonic rs201406139 ALLC AU nonframeshift deletion NM_018436 exon11 c.901_903del p.301_301del 0.411941 0.3284 0.4576 0.4030 ID=COSM128720;OCCURENCE=1(breast),1(ovary),1(endometrium),1(haematopoietic_and_lymphoid_tissue),1(upper_aerodigestive_tract) Uncertain 2_3749267_G->A 2 3749267 3749267 G A snp 903.77 1/1 66 29 0 29 1.0 intronic rs11681270 ALLC AU NM_018436 exon11 c.30479+41G>A 0.294728 0.2411 0.349032 0.3236 0.2479 Uncertain 2_3751606_C->T 2 3751606 3751606 C T snp 263.77 0/1 99 27 15 12 0.44 exonic rs56104311 DCDC2C AU nonsynonymous SNV NM_001287444 exon1 c.C265T p.R89C 0.13738 0.2202 0.1364 0.5 0.06 T -1.193 T Pathogenic 2_3751705_C->T 2 3751705 3751705 C T snp 171.9 1/1 15 5 0 5 1.0 intronic rs35537698 DCDC2C AU NM_001287444 exon1 c.287+77C>T 0.411941 0.3542 Uncertain 2_3756073_G->A 2 3756073 3756073 G A snp 76.77 0/1 99 11 6 5 0.45 intronic rs17505481 DCDC2C AU NM_001287444 exon2 c.4797-65G>A 0.329673 0.2252 Uncertain 2_3774436_C->T 2 3774436 3774436 C T snp 1838.77 1/1 99 57 0 57 1.0 intronic rs357940 DCDC2C AU NM_001287444 exon3 c.23251-156C>T 0.954073 1 Uncertain 2_3774448_T->C 2 3774448 3774448 T C snp 1978.77 1/1 99 69 0 69 1.0 intronic rs12711970 DCDC2C AU NM_001287444 exon3 c.23251-144T>C 0.52476 0.5446 Uncertain 2_3774519_T->C 2 3774519 3774519 T C snp 3781.77 1/1 99 144 0 144 1.0 intronic rs357941 DCDC2C AU NM_001287444 exon3 c.23251-73T>C 0.955072 0.996 Uncertain 2_3800095_C->T 2 3800095 3800095 C T snp 479.77 0/1 99 35 18 17 0.49 intronic rs56857953 DCDC2C AU NM_001287444 exon5 c.49011-257C>T 0.111621 0.3065 Uncertain 2_3800383_C->T 2 3800383 3800383 C T snp 6623.77 1/1 99 214 0 214 1.0 exonic rs357969 DCDC2C AU synonymous SNV NM_001287444 exon5 c.C576T p.G192G 0.512979 0.6756 0.6094 0.6337 Uncertain 2_3800496_C->T 2 3800496 3800496 C T snp 3866.77 1/1 99 133 0 133 1.0 splicing rs357968 DCDC2C AU NM_001287444 exon5 c.49149+6C>T 0.507987 0.6756 0.6134 0.6340 Pathogenic 2_3815250_A->G 2 3815250 3815250 A G snp 635.77 0/1 99 60 32 28 0.47 intronic rs10180257 DCDC2C AU NM_001287444 exon7 c.64002-93A>G 0.714058 0.6974 Uncertain 2_3815477_T->A 2 3815477 3815477 T A snp 1320.77 0/1 99 85 34 51 0.6 intronic rs17017989 DCDC2C AU NM_001287444 exon7 c.64129+7T>A 0.129393 0.3016 0.1390 0.3089 Uncertain 2_3826324_C->T 2 3826324 3826324 C T snp 550.77 0/1 99 53 29 24 0.45 intronic rs13005405 DCDC2C AU NM_001287444 exon9 c.75064-81C>T 0.363618 0.376 Uncertain 2_3826387_T->C 2 3826387 3826387 T C snp 1542.77 0/1 99 157 87 70 0.45 intronic rs13021385 DCDC2C AU NM_001287444 exon9 c.75064-18T>C 0.363019 0.376 0.4041 0.3560 Uncertain 2_3826597_G->A 2 3826597 3826597 G A snp 1202.77 0/1 99 104 50 54 0.52 intronic rs13035992 DCDC2C AU NM_001287444 exon9 c.75133+123G>A 0.361422 0.376 Uncertain 2_4672835_TG->- 2 4672835 4672836 TG - indel 123.73 0/1 99 14 5 9 0.64 intergenic rs71906919 LINC01304 AU Uncertain 2_7001119_G->A 2 7001119 7001119 G A snp 90.28 1/1 9 3 0 3 1.0 intronic rs2712046 CMPK2 AU NM_207315 exon3 c.11334-195G>A 0.899161 1 Uncertain 2_7001225_ACACACACACGC->- 2 7001225 7001236 ACACACACACGC - indel 5387.73 1/1 86 50 2 48 0.96 intronic rs139571871 CMPK2 AU NM_207315 exon3 c.11334-89_11334-78delACACACACACGC Uncertain 2_7001259_C->A 2 7001259 7001259 C A snp 2317.77 1/1 99 77 0 77 1.0 intronic rs2256410 CMPK2 AU NM_207315 exon3 c.11334-55C>A 0.94369 0.997 Uncertain 2_7003879_G->A 2 7003879 7003879 G A snp 221.84 1/1 18 7 0 7 1.0 intronic rs2712039 CMPK2 AU NM_207315 exon4 c.13729+170G>A 0.890775 1 Uncertain 2_7003902_G->A 2 7003902 7003902 G A snp 135.03 1/1 12 4 0 4 1.0 intronic rs2712040 CMPK2 AU NM_207315 exon4 c.13729+193G>A 0.94369 1 Uncertain 2_7005069_C->T 2 7005069 7005069 C T snp 3636.77 1/1 99 132 1 131 0.99 intronic rs2595172 CMPK2 AU NM_207315 exon5 c.15172-83C>T 0.935104 1 Uncertain 2_7005369_A->G 2 7005369 7005369 A G snp 3415.77 1/1 99 129 0 129 1.0 exonic rs11678810 CMPK2 AU synonymous SNV NM_207315 exon1 c.T459C p.C153C 0.998003 1 0.996614 0.9997 1 Uncertain 2_7005492_C->G 2 7005492 7005492 C G snp 508.77 0/1 99 46 25 21 0.46 exonic rs562597272 CMPK2 AU synonymous SNV NM_207315 exon1 c.G336C p.L112L 0.00159744 0.0069 0.0008 0.0204 Uncertain 2_7005992_C->T 2 7005992 7005992 C T snp 1075.77 1/1 81 34 0 34 1.0 upstream rs4669108 CMPK2 AU 0.936701 1 0.9954 1 Uncertain 2_7017903_A->G 2 7017903 7017903 A G snp 1882.77 1/1 99 57 0 57 1.0 UTR5 rs10182815 RSAD2 AU 0.953474 1 0.955328 0.9869 0.9995 Uncertain 2_7018021_G->A 2 7018021 7018021 G A snp 2464.77 0/1 99 229 122 107 0.47 exonic rs2305256 RSAD2 AU synonymous SNV NM_080657 exon1 c.G90A p.P30P 0.0081869 0.0169 0.000231 0.0051 0.0213 Uncertain 2_7019079_A->G 2 7019079 7019079 A G snp 2999.77 1/1 99 104 0 104 1.0 intronic rs6704746 RSAD2 AU NM_080657 exon1 c.346+802A>G 0.896166 1 Uncertain 2_7027323_T->A 2 7027323 7027323 T A snp 5335.77 1/1 99 187 0 187 1.0 intronic rs9917321 RSAD2 AU NM_080657 exon3 c.9364+28T>A 0.735423 0.8571 0.747347 0.8010 0.8484 Uncertain 2_7046273_ACACACACACACACACAC->- 2 7046273 7046290 ACACACACACACACACAC - indel 3929.73 ./1 99 33 0 33 1.0 intergenic rs768570352 RSAD2 AU Uncertain 2_7046273_ACAC->- 2 7046273 7046276 ACAC - indel 3929.73 ./1 99 33 0 33 1.0 intergenic rs567320629 RSAD2 AU Uncertain 2_7046309_A->T 2 7046309 7046309 A T snp 1404.77 0/1 99 96 44 52 0.54 intergenic rs13395107 RSAD2 AU Uncertain 2_7050483_-->TG 2 7050483 7050483 - TG indel 2409.73 ./1 99 102 3 99 0.97 intergenic rs369817064 RSAD2 AU Uncertain 2_7050484_TGTGTG->- 2 7050484 7050489 TGTGTG - indel 2409.73 ./1 99 102 3 99 0.97 intergenic RSAD2 AU Uncertain 2_7130517_ACACACACACAC->- 2 7130517 7130528 ACACACACACAC - indel 770.73 0/1 99 31 3 28 0.9 intronic rs769456256 RNF144A AU Uncertain 2_7137067_A->G 2 7137067 7137067 A G snp 689.77 1/1 51 23 0 23 1.0 exonic rs364891 RNF144A AU nonsynonymous SNV NM_014746 exon3 c.A10G p.T4A 0.841853 0.7817 0.814240 0.8242 0.8029 1 T 0.001 P -0.962 T 0.0 T 0.0 T Pathogenic 2_7154632_T->C 2 7154632 7154632 T C snp 7223.77 1/1 99 250 0 250 1.0 exonic rs309325 RNF144A AU synonymous SNV NM_014746 exon4 c.T183C p.T61T 0.9998 0.999 0.9995 0.9934 1.0 P -1.020 T Likely benign 2_7160490_C->T 2 7160490 7160490 C T snp 261.8 1/1 21 7 0 7 1.0 intronic rs309306 RNF144A AU NM_014746 exon6 c.23546-113C>T 0.503195 0.7192 Uncertain 2_7164483_C->T 2 7164483 7164483 C T snp 2726.77 1/1 99 105 2 103 0.98 intronic rs6709878 RNF144A AU NM_014746 exon7 c.27442-16C>T 0.511981 0.5962 0.371136 0.3464 0.6220 Uncertain 2_7170389_TGTGTGTGTGTG->- 2 7170389 7170400 TGTGTGTGTGTG - indel 7878.73 ./1 99 173 1 172 0.99 intronic rs71402828 RNF144A AU NM_014746 exon8 c.33289+43_33289+54delTGTGTGTGTGTG 0.565096 0.7827 Uncertain 2_7170389_TGTGTGTGTGTGTG->- 2 7170389 7170402 TGTGTGTGTGTGTG - indel 7878.73 ./1 99 173 1 172 0.99 intronic RNF144A AU NM_014746 exon8 c.33289+43_33289+56delTGTGTGTGTGTGTG Uncertain 2_7170517_G->T 2 7170517 7170517 G T snp 173.9 1/1 15 5 0 5 1.0 intronic rs34349013 RNF144A AU NM_014746 exon8 c.33289+171G>T 0.268171 0.5496 Uncertain 2_7187199_A->G 2 7187199 7187199 A G snp 3531.77 1/1 99 116 0 116 1.0 intergenic rs6722170 RNF144A AU 0.262181 0.5556 Uncertain 2_7187209_C->G 2 7187209 7187209 C G snp 3960.77 1/1 99 131 0 131 1.0 intergenic rs6707249 RNF144A AU 0.270567 0.5556 Uncertain 2_7187398_TA->- 2 7187398 7187399 TA - indel 7089.73 1/1 99 154 0 154 1.0 intergenic rs71402829 RNF144A AU 0.270767 0.5546 Uncertain 2_7208324_G->T 2 7208324 7208324 G T snp 1496.77 0/1 99 119 56 63 0.53 ncRNA_intronic rs1869298 LOC101929452 AU 0.375399 0.4881 0.3685 0.4733 Uncertain 2_7208422_T->C 2 7208422 7208422 T C snp 843.77 0/1 99 50 18 32 0.64 ncRNA_intronic rs1869297 LOC101929452 AU 0.374201 0.4881 0.3663 0.4735 Uncertain 2_7229778_G->C 2 7229778 7229778 G C snp 38.77 0/1 67 5 3 2 0.4 intergenic rs61329746 LOC101929452 AU 0.227436 0.4325 Uncertain 2_7230011_A->C 2 7230011 7230011 A C snp 1463.77 0/1 99 152 81 71 0.47 intergenic rs16865920 LOC101929452 AU 0.241414 0.4315 Uncertain 2_7230104_G->A 2 7230104 7230104 G A snp 359.77 0/1 99 24 13 11 0.46 intergenic rs16865922 LOC101929452 AU 0.239018 0.4315 Uncertain 2_7243450_GTGTGT->- 2 7243450 7243455 GTGTGT - indel 10097.7 ./1 99 151 1 150 0.99 intergenic rs398059922 LOC101929452 AU Uncertain 2_7243450_GTGT->- 2 7243450 7243453 GTGT - indel 10097.7 ./1 99 151 1 150 0.99 intergenic rs377485765 LOC101929452 AU Uncertain 2_7249578_G->A 2 7249578 7249578 G A snp 286.77 0/1 99 25 13 12 0.48 intergenic rs6746186 LOC101929452 AU 0.248403 0.4286 Uncertain 2_7403641_-->AC 2 7403641 7403641 - AC indel 2534.73 1/1 99 68 2 66 0.97 intergenic rs111726098 LOC101929452 AU Uncertain 2_7409990_TG->- 2 7409990 7409991 TG - indel 8518.73 1/1 99 235 0 235 1.0 intergenic rs10548278 LOC101929452 AU 0.485224 0.5367 Uncertain 2_7421557_C->G 2 7421557 7421557 C G snp 420.77 1/1 33 13 0 13 1.0 intergenic rs4668533 LOC101929452 AU 0.76278 0.9405 Uncertain 2_7471479_-->TC 2 7471479 7471479 - TC indel 791.73 1/1 57 19 0 19 1.0 intergenic rs72249212 LOC101929452 AU Uncertain 2_7471480_-->CTCA 2 7471480 7471480 - CTCA indel 593.73 1/1 52 19 0 19 1.0 intergenic rs544862195 LOC101929452 AU 0.286142 0.6518 Uncertain 2_7540646_-->A 2 7540646 7540646 - A indel 3094.73 1/1 99 79 0 79 1.0 intergenic rs397809437 LOC101929452 AU 0.712859 0.8264 0.6588 0.8252 Uncertain 2_8822278_C->T 2 8822278 8822278 C T snp 2040.77 0/1 99 184 97 87 0.47 UTR5 ID2 AU Uncertain 2_8822893_A->- 2 8822893 8822893 A - indel 40.73 0/1 78 21 12 9 0.43 intronic ID2 AU NM_002166 exon2 c.677-79delA Uncertain 2_8822912_-->AAC 2 8822912 8822912 - AAC indel 1695.73 0/1 99 73 16 57 0.78 intronic ID2 AU NM_002166 exon2 c.677-60insAAC Uncertain 2_8870814_A->G 2 8870814 8870814 A G snp 3471.77 1/1 99 125 0 125 1.0 UTR3 rs6431959 KIDINS220 AU 0.953674 0.9673 0.950238 0.9748 0.9406 Uncertain 2_8870862_T->C 2 8870862 8870862 T C snp 2204.77 0/1 99 172 78 94 0.55 exonic rs13406422 KIDINS220 AU synonymous SNV NM_020738 exon30 c.A5304G p.E1768E 0.0932508 0.3284 0.002660 0.0457 0.2733 Uncertain 2_8871689_C->T 2 8871689 8871689 C T snp 2205.77 0/1 99 149 66 83 0.56 exonic KIDINS220 AU nonsynonymous SNV NM_020738 exon30 c.G4477A p.G1493S 0.08 T 0.939 N -0.905 T 0.001 T 0.014 T Pathogenic 2_8887910_A->T 2 8887910 8887910 A T snp 593.77 1/1 45 16 0 16 1.0 intronic rs1978841 KIDINS220 AU NM_020738 exon6 c.17167-106A>T 0.44389 0.623 Uncertain 2_8898089_A->T 2 8898089 8898089 A T snp 56.74 1/1 6 2 0 2 1.0 intronic rs4669336 KIDINS220 AU NM_020738 exon8 c.20925+6315A>T 0.96905 0.9673 Uncertain 2_8910987_A->T 2 8910987 8910987 A T snp 2461.77 1/1 99 89 0 89 1.0 intronic rs12476359 KIDINS220 AU NM_020738 exon9 c.40113+25A>T 0.980631 0.9663 0.978829 0.9784 0.9422 Uncertain 2_8911010_T->C 2 8911010 8911010 T C snp 1771.77 1/1 99 61 0 61 1.0 intronic rs17630893 KIDINS220 AU NM_020738 exon9 c.40113+48T>C 0.447684 0.6359 0.465417 0.5497 0.6226 Uncertain 2_8916847_A->T 2 8916847 8916847 A T snp 484.77 1/1 36 17 0 17 1.0 intronic rs4669338 KIDINS220 AU NM_020738 exon10 c.46028-30A>T 0.948482 0.9663 0.943251 0.9686 0.9413 Uncertain 2_8943291_G->A 2 8943291 8943291 G A snp 300.78 1/1 24 8 0 8 1.0 intronic rs2356658 KIDINS220 AU NM_020738 exon23 c.72408+34G>A 0.99381 1 0.993368 0.9980 1 Uncertain 2_8998624_A->G 2 8998624 8998624 A G snp 384.77 1/1 30 15 0 15 1.0 UTR3 rs10929559 MBOAT2 AU 0.982029 1 Uncertain 2_9419411_G->A 2 9419411 9419411 G A snp 4055.77 1/1 99 145 0 145 1.0 intronic rs10193043 ASAP2 AU NM_001135191 exon2 c.72212-34G>A 0.131589 0.0298 0.754729 0.8072 0.7304 Uncertain 2_9419415_C->T 2 9419415 9419415 C T snp 4080.77 1/1 99 148 0 148 1.0 intronic rs10170149 ASAP2 AU NM_001135191 exon2 c.72212-30C>T 0.547923 0.7073 0.535676 0.5997 0.7015 Uncertain 2_9463454_C->T 2 9463454 9463454 C T snp 2708.77 1/1 99 99 1 98 0.99 intronic rs12475160 ASAP2 AU NM_001135191 exon6 c.116146+75C>T 0.619209 0.8502 Uncertain 2_9484542_C->T 2 9484542 9484542 C T snp 1424.77 1/1 99 40 0 40 1.0 intronic rs6724103 ASAP2 AU NM_001135191 exon10 c.137427-118C>T 0.866414 0.9187 Uncertain 2_9484562_AAAA->- 2 9484562 9484565 AAAA - indel 3223.52 1/1 99 50 0 50 1.0 intronic rs397756780 ASAP2 AU NM_001135191 exon10 c.137427-98_137427-95delAAAA 0.865615 0.9187 Uncertain 2_9491017_C->T 2 9491017 9491017 C T snp 2690.77 1/1 99 83 0 83 1.0 exonic rs4669385 ASAP2 AU synonymous SNV NM_003887 exon12 c.C1104T p.L368L 0.88099 0.9196 0.908734 0.9571 0.9042 Uncertain 2_9498863_T->C 2 9498863 9498863 T C snp 1091.77 0/1 99 94 46 48 0.51 intronic rs80340978 ASAP2 AU NM_001135191 exon15 c.151651-21T>C 0.0509185 0.2113 0.008688 0.0320 0.2209 Uncertain 2_9597276_-->TG 2 9597276 9597276 - TG indel 157.87 1/1 15 17 0 17 1.0 intronic rs397983831 CPSF3 AU NM_016207 exon14 c.33254+120insTG 0.29972 0.4147 Uncertain 2_9630585_C->T 2 9630585 9630585 C T snp 1002.77 0/1 99 98 55 43 0.44 exonic rs746436310 ADAM17 AR synonymous SNV NM_003183 exon19 c.G2196A p.A732A 1.656e-05 0 Uncertain 2_9770680_-->GGCGA 2 9770680 9770680 - GGCGA indel 964.73 0/1 99 52 18 34 0.65 intronic YWHAQ AU NM_006826 exon5 c.45249+17insGGCGA Uncertain 2_9983591_-->G 2 9983591 9983591 - G indel 2721.73 1/1 99 66 0 66 1.0 UTR5 rs35818430 TAF1B AU 0.998003 1 0.998887 Uncertain 2_9983686_G->T 2 9983686 9983686 G T snp 1289.77 1/1 96 49 1 48 0.98 exonic rs2303914 TAF1B AU nonsynonymous SNV NM_005680 exon1 c.G16T p.A6S 0.540735 0.6845 0.444703 0.5652 0.6830 1.000 P -0.944 T 0.192 T 0.099 T Pathogenic 2_9983716_A->C 2 9983716 9983716 A C snp 1002.77 1/1 72 36 0 36 1.0 intronic rs385513 TAF1B AU NM_005680 exon1 c.18+28A>C 0.926917 1 0.926523 0.9717 1 Uncertain 2_9989442_A->G 2 9989442 9989442 A G snp 438.77 0/1 99 55 32 23 0.42 intronic rs16867195 TAF1B AU NM_005680 exon3 c.5831-59A>G 0.214457 0.2986 Uncertain 2_9991556_G->A 2 9991556 9991556 G A snp 298.78 1/1 24 8 0 8 1.0 intronic rs287991 TAF1B AU NM_005680 exon4 c.7999-113G>A 0.996006 1 Uncertain 2_9994288_C->G 2 9994288 9994288 C G snp 214.77 0/1 99 18 10 8 0.44 intronic rs4669471 TAF1B AU NM_005680 exon5 c.10784-166C>G 0.20008 0.2986 Uncertain 2_10008872_A->G 2 10008872 10008872 A G snp 1077.77 0/1 99 96 51 45 0.47 intronic rs12623017 TAF1B AU NM_005680 exon6 c.24888+314A>G 0.214457 0.2986 Uncertain 2_10015879_A->G 2 10015879 10015879 A G snp 31.77 0/1 60 8 6 2 0.25 intronic rs12611655 TAF1B AU NM_005680 exon7 c.32323-114A>G 0.215056 0.2986 Uncertain 2_10044941_G->T 2 10044941 10044941 G T snp 540.77 0/1 99 39 20 19 0.49 intronic rs450192 TAF1B AU NM_005680 exon9 c.61317-46G>T 0.430312 0.4504 0.484043 0.5671 0.4690 Uncertain 2_10044951_A->G 2 10044951 10044951 A G snp 704.77 0/1 99 60 31 29 0.48 intronic rs2052948 TAF1B AU NM_005680 exon9 c.61317-36A>G 0.360224 0.38 0.303269 0.3113 0.3570 Uncertain 2_10045014_C->T 2 10045014 10045014 C T snp 4593.77 1/1 99 172 0 172 1.0 exonic rs400917 TAF1B AU synonymous SNV NM_005680 exon9 c.C834T p.Y278Y 0.819688 0.8294 0.851761 0.8918 0.8281 Uncertain 2_10045024_G->A 2 10045024 10045024 G A snp 5325.77 1/1 99 198 0 198 1.0 exonic rs396190 TAF1B AU nonsynonymous SNV NM_005680 exon9 c.G844A p.V282I 0.932109 1 0.930801 0.9796 1 0.0 P -1.012 T 0.0 T 0.0 T Pathogenic 2_10045147_A->G 2 10045147 10045147 A G snp 4623.77 1/1 99 173 0 173 1.0 intronic rs448327 TAF1B AU NM_005680 exon9 c.61465+12A>G 0.941494 1 0.939259 0.9820 1 Uncertain 2_10050947_T->C 2 10050947 10050947 T C snp 1085.77 0/1 99 86 40 46 0.53 exonic rs1054561 TAF1B AU synonymous SNV NM_005680 exon10 c.T1038C p.A346A 0.43131 0.4514 0.513071 0.5743 0.4761 Uncertain 2_10050960_A->G 2 10050960 10050960 A G snp 1085.77 0/1 99 80 37 43 0.54 exonic rs1054565 TAF1B AU nonsynonymous SNV NM_005680 exon10 c.A1051G p.T351A 0.43131 0.4514 0.512994 0.5743 0.4759 0.0 P -1.073 T 0.024 T 0.005 T Pathogenic 2_10051053_G->C 2 10051053 10051053 G C snp 302.77 0/1 99 25 11 14 0.56 intronic rs10495576 TAF1B AU NM_005680 exon10 c.67372+11G>C 0.43151 0.4514 0.515454 0.5743 0.4752 Uncertain 2_10053412_C->T 2 10053412 10053412 C T snp 2423.77 0/1 99 237 133 104 0.44 intronic rs12467598 TAF1B AU NM_005680 exon12 c.69708+34C>T 0.43131 0.4514 0.512686 0.5759 0.4778 Uncertain 2_10059097_A->C 2 10059097 10059097 A C snp 1951.77 0/1 99 194 105 89 0.46 intronic rs2303921 TAF1B AU NM_005680 exon13 c.75499-72A>C 0.502196 0.5476 Uncertain 2_10059620_G->C 2 10059620 10059620 G C snp 68.77 0/1 97 8 5 3 0.38 intronic rs1820966 TAF1B AU NM_005680 exon14 c.76056-106G>C 0.438299 0.4802 Uncertain 2_10059770_G->T 2 10059770 10059770 G T snp 1657.77 0/1 99 161 87 74 0.46 exonic rs1820965 TAF1B AU nonsynonymous SNV NM_005680 exon14 c.G1386T p.E462D 0.441494 0.4792 0.515301 0.5827 0.4942 0.0 P -0.965 T 0.0 T 0.0 T Pathogenic 2_10059844_C->T 2 10059844 10059844 C T snp 2358.77 0/1 99 187 87 100 0.53 exonic rs16867245 TAF1B AU nonsynonymous SNV NM_005680 exon14 c.C1460T p.T487M 0.13758 0.2312 0.084115 0.1380 0.2308 0.0 P -1.074 T 0.986 D 0.742 D Pathogenic 2_10093028_T->C 2 10093028 10093028 T C snp 442.77 0/1 99 47 27 20 0.43 intronic rs138337540 GRHL1 AU NM_198182 exon1 c.20+1046T>C 0.00479233 0.0139 Uncertain 2_10138981_-->AT 2 10138981 10138981 - AT indel 168.74 0/1 27 6 1 5 0.83 intronic rs554097850 GRHL1 AU NM_198182 exon15 c.47130-111insAT Uncertain 2_10183749_GCC->- 2 10183749 10183751 GCC - indel 243.73 0/1 99 13 7 6 0.46 UTR5 rs372827624 KLF11 AU 0.285743 0.1667 Uncertain 2_10188649_A->T 2 10188649 10188649 A T snp 1902.77 0/1 99 166 81 85 0.51 exonic rs11687357 KLF11 AU synonymous SNV NM_003597 exon3 c.A1185T p.V395V 0.835264 0.8313 0.808396 0.8340 0.8467 Uncertain 2_10220247_C->A 2 10220247 10220247 C A snp 165.77 0/1 99 17 7 10 0.59 exonic rs192172817 CYS1 AU nonsynonymous SNV NM_001037160 exon1 c.G104T p.R35L 0.136781 0.1806 0.5 . 0.27 T 0.0 P -0.988 T 0.046 T 0.007 T Pathogenic 2_10225241_C->T 2 10225241 10225241 C T snp 1186.77 1/1 87 38 0 38 1.0 intergenic rs6432058 CYS1 AU 0.895966 0.996 0.8894 0.9959 Uncertain 2_10226306_-->C 2 10226306 10226306 - C indel 758.73 0/1 99 61 37 24 0.39 intergenic rs34098251 CYS1 AU Uncertain 2_10262920_T->G 2 10262920 10262920 T G snp 1671.77 0/1 99 143 72 71 0.5 exonic rs1130609 RRM2 AU nonsynonymous SNV NM_001165931 exon1 c.T175G p.S59A 0.651757 0.3393 0.773572 0.7160 0.4320 0.98 T 0.000 P -0.902 T Pathogenic 2_10264057_T->C 2 10264057 10264057 T C snp 2654.77 0/1 99 235 127 108 0.46 intronic rs6432065 RRM2 AU NM_001034 exon4 c.1054+78T>C 0.65635 0.3363 Uncertain 2_10281903_-->C 2 10281903 10281903 - C indel 408.73 1/1 33 11 0 11 1.0 intronic rs398090136 C2orf48 AU 0.998602 0.999 Uncertain 2_10282147_T->C 2 10282147 10282147 T C snp 2452.77 0/1 99 237 128 109 0.46 intronic rs11896140 C2orf48 AU NM_182626 exon2 c.72+66T>C 0.486821 0.2887 0.606001 Uncertain 2_10332539_A->G 2 10332539 10332539 A G snp 476.77 1/1 36 13 0 13 1.0 intronic rs13392520 C2orf48 AU NM_182626 exon4 c.68427-17897A>G 0.39397 0.4137 Uncertain 2_10580967_G->A 2 10580967 10580967 G A snp 389.77 0/1 99 51 33 18 0.35 exonic rs1049500 ODC1 AD synonymous SNV NM_002539 exon12 c.C1269T p.P423P 0.272165 0.5694 0.106412 0.1379 0.5476 Uncertain 2_10584022_T->C 2 10584022 10584022 T C snp 1793.77 0/1 99 154 74 80 0.52 intronic rs3752661 ODC1 AD NM_001287190 exon7 c.3113+60T>C 0.210264 0.5218 Uncertain 2_10585302_T->C 2 10585302 10585302 T C snp 149.77 0/1 99 12 6 6 0.5 UTR5 rs2302613 ODC1 AD 0.115016 0.1875 Uncertain 2_10585311_A->C 2 10585311 10585311 A C snp 113.77 0/1 99 9 5 4 0.44 UTR5 rs2302614 ODC1 AD 0.26857 0.5615 Uncertain 2_10586780_T->C 2 10586780 10586780 T C snp 311.78 1/1 24 10 0 10 1.0 intronic rs28362380 ODC1 AD NM_001287189 exon12 c.6750-819T>C 0.115016 0.1885 Uncertain 2_10586790_A->G 2 10586790 10586790 A G snp 389.77 0/1 41 15 2 13 0.87 intronic rs7608353 ODC1 AD NM_001287189 exon12 c.6750-809A>G 0.128794 0.1885 Uncertain 2_10587169_T->A 2 10587169 10587169 T A snp 49.77 0/1 33 4 1 3 0.75 intronic rs7558559 ODC1 AD NM_001287189 exon12 c.6750-430T>A 0.189297 0.1925 Uncertain 2_10712278_C->T 2 10712278 10712278 C T snp 989.77 0/1 99 105 60 45 0.43 exonic rs3732114 NOL10 AU synonymous SNV NM_001261392 exon20 c.G1908A p.L636L 0.30651 0.4335 0.229048 0.2026 0.4572 Uncertain 2_10717714_G->C 2 10717714 10717714 G C snp 987.77 0/1 99 115 71 44 0.38 intronic rs12473957 NOL10 AU NM_001261394 exon2 c.5565-47G>C 0.282947 0.1905 0.359308 0.3628 0.1748 Uncertain 2_10718007_G->T 2 10718007 10718007 G T snp 56.74 1/1 6 2 0 2 1.0 intronic rs7570118 NOL10 AU NM_001261394 exon2 c.5668+143G>T 0.589856 0.624 Uncertain 2_10729032_C->T 2 10729032 10729032 C T snp 34.77 0/1 63 7 5 2 0.29 intronic rs6714787 NOL10 AU NM_001261394 exon3 c.16972-136C>T 0.282947 0.1905 Uncertain 2_10729554_A->T 2 10729554 10729554 A T snp 133.03 1/1 12 4 0 4 1.0 intronic rs759402 NOL10 AU NM_001261394 exon3 c.17220+138A>T 0.590455 0.626 Uncertain 2_10729897_C->T 2 10729897 10729897 C T snp 1289.77 1/1 93 46 0 46 1.0 intronic rs759403 NOL10 AU NM_001261394 exon4 c.17681+20C>T 0.590455 0.626 0.589341 0.5628 0.6217 Uncertain 2_10740841_T->C 2 10740841 10740841 T C snp 115.77 0/1 99 13 8 5 0.38 intronic rs4668692 NOL10 AU NM_001261394 exon5 c.28782-137T>C 0.306909 0.4335 Uncertain 2_10741141_A->G 2 10741141 10741141 A G snp 380.77 1/1 30 11 0 11 1.0 intronic rs10181806 NOL10 AU NM_001261394 exon5 c.28872+73A>G 0.589457 0.624 Uncertain 2_10743153_C->T 2 10743153 10743153 C T snp 2509.77 1/1 99 86 0 86 1.0 intronic rs2287061 NOL10 AU NM_001261394 exon7 c.31007-50C>T 0.589657 0.624 0.595435 Uncertain 2_10743191_G->A 2 10743191 10743191 G A snp 3638.77 1/1 99 132 0 132 1.0 intronic rs2287062 NOL10 AU NM_001261394 exon7 c.31007-12G>A 0.589657 0.624 0.589434 0.5832 0.6541 Uncertain 2_10743319_T->C 2 10743319 10743319 T C snp 1740.77 0/1 99 151 73 78 0.52 intronic rs2287063 NOL10 AU NM_001261394 exon7 c.31087+36T>C 0.307109 0.4335 0.229042 0.2273 0.4923 Uncertain 2_10747246_C->G 2 10747246 10747246 C G snp 259.8 1/1 21 8 0 8 1.0 intronic rs6744854 NOL10 AU NM_001261394 exon8 c.35114-64C>G 0.589657 0.624 Uncertain 2_10747271_A->G 2 10747271 10747271 A G snp 396.77 1/1 30 18 0 18 1.0 intronic rs6759740 NOL10 AU NM_001261394 exon8 c.35114-39A>G 0.589657 0.624 0.597000 0.5709 0.6910 Uncertain 2_10762303_A->- 2 10762303 10762303 A - indel 5247.73 1/1 99 128 0 128 1.0 intronic rs70953325 NOL10 AU NM_001261394 exon8 c.35241+14866delA 1 1 1 1 Uncertain 2_10784349_C->T 2 10784349 10784349 C T snp 43.77 0/1 72 6 4 2 0.33 intronic rs3732112 NOL10 AU NM_001261394 exon9 c.72249-96C>T 0.0109824 0.0546 ID=COSN166015;OCCURENCE=1(breast) Uncertain 2_10784491_A->G 2 10784491 10784491 A G snp 322.77 0/1 99 41 26 15 0.37 exonic rs3732111 NOL10 AU synonymous SNV NM_001261392 exon12 c.T903C p.L301L 0.248602 0.4157 0.162855 0.1544 0.4521 Uncertain 2_10784528_T->C 2 10784528 10784528 T C snp 208.77 0/1 99 35 23 12 0.34 intronic rs3821196 NOL10 AU NM_001261394 exon9 c.72302+30T>C 0.271765 0.4345 0.172453 0.1520 0.4470 Uncertain 2_10799468_GG->- 2 10799468 10799469 GG - indel 1077.73 1/1 90 39 0 39 1.0 intronic rs201112079 NOL10 AU NM_001261394 exon11 c.87180+92_87180+93delGG Uncertain 2_10803104_T->C 2 10803104 10803104 T C snp 1614.77 0/1 99 161 88 73 0.45 exonic rs201462244 NOL10 AU nonsynonymous SNV NM_001261392 exon8 c.A580G p.S194G 0.00219649 0.0109 0.000077 0.0011 0.0121 0.4 T 1.000 D -0.401 T 0.074 T 0.023 T ID=COSM148797;OCCURENCE=1(stomach) Pathogenic 2_10808776_-->AA 2 10808776 10808776 - AA indel 2845.73 1/1 99 53 0 53 1.0 intronic rs55925118 NOL10 AU NM_001261394 exon14 c.96587-7insAA 0.989598 0.9966 1 Uncertain 2_10813782_T->C 2 10813782 10813782 T C snp 737.77 1/1 54 24 0 24 1.0 intronic rs6748766 NOL10 AU NM_001261394 exon16 c.101487+99T>C 0.988419 1 Uncertain 2_10815833_A->G 2 10815833 10815833 A G snp 116.77 0/1 99 10 5 5 0.5 intronic rs9287721 NOL10 AU NM_001261394 exon17 c.103723-86A>G 0.219649 0.1925 Uncertain 2_10908893_A->G 2 10908893 10908893 A G snp 1118.77 0/1 99 93 40 53 0.57 exonic rs1198849 ATP6V1C2 AU nonsynonymous SNV NM_001039362 exon6 c.A427G p.N143D 0.452476 0.6597 0.357450 0.4212 0.6416 0.01 T 0.999 P -0.934 T 0.112 T 0.266 T Pathogenic 2_10911891_T->C 2 10911891 10911891 T C snp 1497.77 1/1 99 49 0 49 1.0 intronic rs1198850 ATP6V1C2 AU NM_144583 exon7 c.48989-73T>C 0.878594 0.9921 Uncertain 2_10912153_T->G 2 10912153 10912153 T G snp 240.77 0/1 99 28 19 9 0.32 intronic rs2171773 ATP6V1C2 AU NM_144583 exon7 c.49088+90T>G 0.363219 0.3304 Uncertain 2_10915090_T->A 2 10915090 10915090 T A snp 4362.77 1/1 99 176 0 176 1.0 intronic rs58188788 ATP6V1C2 AU NM_144583 exon10 c.52128-13T>A 0.26877 0.5258 0.205521 0.2717 0.5332 Uncertain 2_10961184_A->G 2 10961184 10961184 A G snp 83.77 0/1 67 5 2 3 0.6 intronic rs1686497 PDIA6 AU NM_001282704 exon14 c.36661+140A>G 0.448482 0.7391 Uncertain 2_10994418_T->C 2 10994418 10994418 T C snp 729.77 1/1 54 19 0 19 1.0 intergenic rs1198852 PDIA6 AU 0.996006 1 Uncertain 2_11053020_A->G 2 11053020 11053020 A G snp 7022.77 1/1 99 243 0 243 1.0 exonic rs3732104 KCNF1 AU synonymous SNV NM_002236 exon1 c.A468G p.A156A 0.892971 0.9653 0.875347 0.8534 0.9532 Uncertain 2_11053740_C->T 2 11053740 11053740 C T snp 2825.77 0/1 99 222 98 124 0.56 exonic rs3732105 KCNF1 AU synonymous SNV NM_002236 exon1 c.C1188T p.I396I 0.483027 0.5099 0.550438 0.5755 0.5334 Uncertain 2_11264763_A->T 2 11264763 11264763 A T snp 1265.77 0/1 99 101 48 53 0.52 ncRNA_exonic rs537189871 FLJ33534 AU 0.000199681 0.001 Uncertain 2_11264830_G->A 2 11264830 11264830 G A snp 5051.77 1/1 99 184 0 184 1.0 ncRNA_exonic rs7560331 FLJ33534 AU 0.732628 0.997 0.605344 0.6907 1 Uncertain 2_11295226_-->G 2 11295226 11295226 - G indel 187.8 1/1 18 6 0 6 1.0 upstream rs148805827 PQLC3 AU 0.999601 1 Uncertain 2_11295247_-->GGGCGAGGCGAGGTTGGCCAGA 2 11295247 11295247 - GGGCGAGGCGAGGTTGGCCAGA indel 1180.73 0/1 99 6 1 5 0.83 upstream rs368293631 PQLC3 AU Uncertain 2_11295867_G->C 2 11295867 11295867 G C snp 1611.77 1/1 99 61 0 61 1.0 intronic rs7598570 PQLC3 AU NM_001282710 exon1 c.143+52G>C 0.814696 0.998 0.7578 0.9934 Uncertain 2_11300732_C->T 2 11300732 11300732 C T snp 2932.77 0/1 99 208 83 125 0.6 intronic rs2271622 PQLC3 AU NM_001282710 exon3 c.5078-18C>T 0.382188 0.4683 0.391665 0.4522 0.4875 Uncertain 2_11300869_T->C 2 11300869 11300869 T C snp 2400.77 1/1 99 86 0 86 1.0 UTR3 rs6432182 PQLC3 AU 0.933107 0.999 0.910734 0.9045 0.9977 Uncertain 2_11300948_T->A 2 11300948 11300948 T A snp 155.77 0/1 99 10 5 5 0.5 intronic rs7608230 PQLC3 AU NM_001282712 exon3 c.5202+74T>A 0.181909 0.3383 Uncertain 2_11304172_C->T 2 11304172 11304172 C T snp 44.74 1/1 6 2 0 2 1.0 intronic rs33985535 PQLC3 AU NM_001282710 exon4 c.8657-157C>T 0.491214 0.4702 Uncertain 2_11312181_G->A 2 11312181 11312181 G A snp 1095.77 0/1 99 82 41 41 0.5 intronic rs12987956 PQLC3 AU NM_001282710 exon5 c.16499+10G>A 0.334665 0.3829 0.367446 0.4422 0.4193 Uncertain 2_11312224_C->T 2 11312224 11312224 C T snp 485.77 0/1 99 25 9 16 0.64 intronic rs3732103 PQLC3 AU NM_001282710 exon5 c.16499+53C>T 0.469848 0.4415 Uncertain 2_11333994_T->G 2 11333994 11333994 T G snp 516.77 0/1 99 43 23 20 0.47 intronic rs2271621 ROCK2 AU NM_004850 exon4 c.10421+11T>G 0.301917 0.5526 0.230934 0.3182 0.5318 Uncertain 2_11348610_AAAT->- 2 11348610 11348613 AAAT - indel 675.73 0/1 99 20 6 14 0.7 intronic rs5829297 ROCK2 AU NM_004850 exon15 c.25011+37_25011+40delAAAT 0.374601 0.3889 0.392481 0.4699 0.4451 Uncertain 2_11356190_G->A 2 11356190 11356190 G A snp 566.77 0/1 99 42 20 22 0.52 intronic rs726843 ROCK2 AU NM_004850 exon21 c.32721-93G>A 0.352037 0.3869 Uncertain 2_11359031_G->T 2 11359031 11359031 G T snp 343.78 1/1 27 13 0 13 1.0 intronic rs9808228 ROCK2 AU NM_004850 exon24 c.35529-60G>T 0.941294 0.999 Uncertain 2_11359120_G->T 2 11359120 11359120 G T snp 258.77 0/1 99 33 20 13 0.39 exonic rs2230774 ROCK2 AU nonsynonymous SNV NM_004850 exon10 c.C1292A p.T431N 0.39976 0.3889 0.450538 0.4981 0.4238 0.64 T 0.001 P -0.919 T 0.0 T 0.0 T ID=CM096319;DIS=Chronic kidney disease, in individuals with low triglycerides, association;TAG=DP;PUB=19578796 DP Pathogenic 2_11389907_C->T 2 11389907 11389907 C T snp 223.77 0/1 99 29 17 12 0.41 exonic rs41264193 ROCK2 AU synonymous SNV NM_004850 exon4 c.G342A p.S114S 0.0173722 0.0089 0.036175 0.0438 0.0144 Uncertain 2_11680897_AA->- 2 11680897 11680898 AA - indel 1168.73 1/1 69 32 0 32 1.0 intronic rs34137466 GREB1 AU 0.597045 0.7103 Uncertain 2_11702661_A->C 2 11702661 11702661 A C snp 3027.77 1/1 99 119 0 119 1.0 exonic rs10929757 GREB1 AU nonsynonymous SNV NM_014668 exon3 c.A230C p.N77T 0.415735 0.5496 0.417346 0.5328 0.4979 0.31 T 0.0 P -0.952 T 0.003 T 0.009 T Pathogenic 2_11718591_C->T 2 11718591 11718591 C T snp 2164.77 1/1 99 65 0 65 1.0 intronic rs1529868 GREB1 AU NM_033090 exon6 c.21817+34C>T 0.529752 0.5486 0.549900 0.5759 0.5483 Uncertain 2_11738091_T->C 2 11738091 11738091 T C snp 5899.77 1/1 99 221 0 221 1.0 exonic rs1435547 GREB1 AU synonymous SNV NM_014668 exon14 c.T2139C p.H713H 0.916733 0.9692 0.937031 0.9722 0.9757 Uncertain 2_11738765_C->T 2 11738765 11738765 C T snp 1111.77 1/1 84 29 0 29 1.0 intronic rs1865575 GREB1 AU NM_014668 exon15 c.42065-40C>T 0.911741 0.9692 0.932263 0.9707 0.9755 Uncertain 2_11741193_C->A 2 11741193 11741193 C A snp 732.77 1/1 57 21 0 21 1.0 intronic rs11681838 GREB1 AU NM_014668 exon16 c.44381+72C>A 0.927516 0.9702 Uncertain 2_11742700_G->A 2 11742700 11742700 G A snp 748.77 0/1 99 68 37 31 0.46 intronic rs181441545 GREB1 AU NM_014668 exon17 c.45928+32G>A 0.000199681 0.001 0.0001 0.0010 Uncertain 2_11752635_T->C 2 11752635 11752635 T C snp 1146.77 1/1 81 45 1 44 0.98 exonic rs2304399 GREB1 AU synonymous SNV NM_014668 exon19 c.T3021C p.I1007I 0.976438 0.9762 0.985555 0.9908 0.9782 Uncertain 2_11755443_T->G 2 11755443 11755443 T G snp 1270.77 1/1 93 40 0 40 1.0 intronic rs2252958 GREB1 AU NM_014668 exon20 c.58676+27T>G 0.822484 0.9732 0.779653 0.8285 0.9796 Uncertain 2_11757009_A->G 2 11757009 11757009 A G snp 1567.77 1/1 99 49 0 49 1.0 intronic rs6735957 GREB1 AU NM_014668 exon21 c.60106+163A>G 0.936302 0.9742 Uncertain 2_11758325_T->C 2 11758325 11758325 T C snp 207.77 0/1 99 21 13 8 0.38 intronic rs56678270 GREB1 AU NM_014668 exon22 c.61673-88T>C 0.188698 0.2718 Uncertain 2_11758326_G->C 2 11758326 11758326 G C snp 234.77 0/1 99 23 14 9 0.39 intronic rs61341568 GREB1 AU NM_014668 exon22 c.61673-87G>C 0.188698 0.2718 Uncertain 2_11761309_T->C 2 11761309 11761309 T C snp 298.77 0/1 99 13 4 9 0.69 intronic rs2304401 GREB1 AU NM_014668 exon23 c.64393+176T>C 0.885383 0.7391 Uncertain 2_11767295_C->G 2 11767295 11767295 C G snp 464.77 0/1 99 27 13 14 0.52 intronic rs78763938 GREB1 AU NM_014668 exon25 c.70490+65C>G 0.102037 0.2331 Uncertain 2_11777757_T->C 2 11777757 11777757 T C snp 291.78 1/1 24 8 0 8 1.0 intronic rs3749064 GREB1 AU NM_014668 exon31 c.81101-84T>C 0.273562 0.4087 Uncertain 2_11778184_G->A 2 11778184 11778184 G A snp 92.77 0/1 99 15 11 4 0.27 intronic rs33962728 GREB1 AU NM_014668 exon31 c.81302+142G>A 0.214457 0.2321 Uncertain 2_11810095_G->A 2 11810095 11810095 G A snp 2962.77 1/1 99 98 0 98 1.0 exonic rs6432225 NTSR2 AU nonsynonymous SNV NM_012344 exon1 c.C161T p.A54V 0.970647 1 0.984953 0.9965 1 1 T 0.0 P -0.914 T 0.0 T 0.001 T Pathogenic 2_11853774_T->C 2 11853774 11853774 T C snp 224.84 1/1 18 7 0 7 1.0 intergenic rs12465629 NTSR2 AU 0.39357 0.4732 Uncertain 2_11853988_A->T 2 11853988 11853988 A T snp 978.77 0/1 99 77 34 43 0.56 intergenic rs12465630 NTSR2 AU 0.393371 0.4722 0.5411 0.3433 Uncertain 2_11854012_G->A 2 11854012 11854012 G A snp 636.77 0/1 99 71 39 32 0.45 intergenic rs10182021 NTSR2 AU 0.176118 0.2738 Uncertain 2_11854099_T->C 2 11854099 11854099 T C snp 230.77 0/1 99 16 7 9 0.56 intergenic rs4668739 NTSR2 AU 0.39377 0.4722 Uncertain 2_11905637_T->- 2 11905637 11905637 T - indel 1286.73 0/1 99 72 22 50 0.69 intronic rs3214670 LPIN1 AR NM_001261429 exon3 c.24113-21delT 0.5205 0.2146 Uncertain 2_11905876_C->T 2 11905876 11905876 C T snp 786.77 0/1 99 51 25 26 0.51 intronic rs10209969 LPIN1 AR NM_001261429 exon3 c.24314+17C>T 0.204673 0.1915 0.264647 0.2979 0.1982 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000082647.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 2_11924950_T->C 2 11924950 11924950 T C snp 2079.77 0/1 99 181 94 87 0.48 intronic rs3795974 LPIN1 AR NM_001261427 exon10 c.43466-61T>C 0.532748 0.245 Uncertain 2_11931931_-->T 2 11931931 11931931 - T indel 340.73 0/1 99 41 23 18 0.44 intronic rs78343196 LPIN1 AR NM_001261427 exon13 c.50494-108insT 0.0910543 0.1349 0.1360 0.1782 Uncertain 2_11932173_G->T 2 11932173 11932173 G T snp 538.77 0/1 99 49 26 23 0.47 intronic rs7561070 LPIN1 AR NM_001261427 exon13 c.50587+41G>T 0.536941 0.1925 0.696217 0.5598 0.2107 Uncertain 2_11936798_A->G 2 11936798 11936798 A G snp 180.77 0/1 99 16 9 7 0.44 intronic rs2577264 LPIN1 AR NM_001261427 exon14 c.54068+1185A>G 0.526957 0.1429 Uncertain 2_11960455_A->T 2 11960455 11960455 A T snp 514.77 0/1 99 37 18 19 0.51 intronic LPIN1 AR NM_001261427 exon20 c.78991-81A>T Uncertain 2_12864766_C->T 2 12864766 12864766 C T snp 5503.77 1/1 99 191 0 191 1.0 intronic rs2288192 TRIB2 AU NM_021643 exon2 c.5245+1088C>T 0.296326 0.63 0.169341 0.2602 0.6334 0.79 T 0.0 P -0.999 T Uncertain 2_12865048_A->T 2 12865048 12865048 A T snp 141.03 1/1 12 4 0 4 1.0 intronic rs2288191 TRIB2 AU NM_021643 exon2 c.5245+1370A>T 0.296526 0.63 Uncertain 2_12877307_C->G 2 12877307 12877307 C G snp 99.28 1/1 9 3 0 3 1.0 intronic rs13016883 TRIB2 AU NM_021643 exon3 c.22018-3144C>G 0.510184 0.8284 Uncertain 2_12877501_-->A 2 12877501 12877501 - A indel 6400.73 1/1 99 142 0 142 1.0 ncRNA_exonic rs5829384 MIR3125 AU 0.71226 0.8442 0.6655 0.8780 Uncertain 2_13531245_A->G 2 13531245 13531245 A G snp 40.78 0/1 27 3 1 2 0.67 intergenic rs117238992 LOC100506474 AU 0.0213658 0.0774 Uncertain 2_15307496_G->A 2 15307496 15307496 G A snp 467.77 0/1 99 42 23 19 0.45 intronic rs528993237 NBAS AR NM_015909 exon1 c.276+49G>A 0.000199681 0.0002 0 Uncertain 2_15319071_A->- 2 15319071 15319071 A - indel 1160.73 1/1 99 50 0 50 1.0 intronic rs397983937 NBAS AR NM_015909 exon2 c.11940-40delA 0.638578 0.7202 0.5432 0.6875 Uncertain 2_15330211_G->A 2 15330211 15330211 G A snp 56.74 1/1 6 2 0 2 1.0 intronic rs2302941 NBAS AR NM_015909 exon4 c.23216-176G>A 0.275759 0.1835 Uncertain 2_15372731_T->G 2 15372731 15372731 T G snp 1808.77 1/1 99 55 0 55 1.0 intronic rs10929352 NBAS AR NM_015909 exon6 c.65464+96T>G 0.253195 0.1845 Uncertain 2_15378822_-->AATT 2 15378822 15378822 - AATT indel 654.73 1/1 33 11 0 11 1.0 intronic rs111370598 NBAS AR NM_015909 exon8 c.71639+12insAATT 0.983427 1 0.982789 0.9767 0.9991 Uncertain 2_15415525_C->T 2 15415525 15415525 C T snp 1300.77 1/1 93 43 0 43 1.0 intronic rs3755127 NBAS AR NM_015909 exon9 c.108436-82C>T 0.713259 0.8601 Uncertain 2_15417281_TT->- 2 15417281 15417282 TT - indel 1073.73 1/1 75 32 0 32 1.0 intronic rs3214432 NBAS AR NM_015909 exon10 c.110054+56_110054+57delTT 0.704872 0.8591 Uncertain 2_15417283_T->A 2 15417283 15417283 T A snp 96.77 0/1 99 29 24 5 0.17 intronic rs2302943 NBAS AR NM_015909 exon10 c.110054+58T>A Uncertain 2_15417285_T->A 2 15417285 15417285 T A snp 811.77 0/1 99 29 5 24 0.83 intronic rs75287593 NBAS AR NM_015909 exon10 c.110054+60T>A 0.704872 0.8591 Uncertain 2_15427173_C->T 2 15427173 15427173 C T snp 3747.77 1/1 99 135 0 135 1.0 intronic rs4668892 NBAS AR NM_015909 exon11 c.120025-23C>T 0.667332 0.8591 0.535291 0.5089 0.8598 Uncertain 2_15448311_A->T 2 15448311 15448311 A T snp 3524.77 1/1 99 128 0 128 1.0 intronic rs1318102 NBAS AR NM_015909 exon13 c.141168-28A>T 0.668331 0.8601 0.542442 0.5231 0.8609 Uncertain 2_15468025_T->C 2 15468025 15468025 T C snp 4400.77 1/1 99 158 0 158 1.0 intronic rs2042145 NBAS AR NM_015909 exon15 c.160823+31T>C 0.257388 0.2907 0.247732 0.2127 0.3230 Uncertain 2_15471000_C->T 2 15471000 15471000 C T snp 80.77 0/1 28 4 1 3 0.75 intronic rs59716943 NBAS AR NM_015909 exon17 c.163718+111C>T 0.0389377 0.1032 Uncertain 2_15471002_C->A 2 15471002 15471002 C A snp 46.77 0/1 31 3 1 2 0.67 intronic rs6759219 NBAS AR NM_015909 exon17 c.163718+113C>A 0.471845 0.2569 Uncertain 2_15491995_CACACACACA->- 2 15491995 15492004 CACACACACA - indel 5790.73 0/1 99 117 56 61 0.52 intronic rs10605991 NBAS AR NM_015909 exon18 c.184944-120_184944-111delCACACACACA Uncertain 2_15493881_A->G 2 15493881 15493881 A G snp 1418.77 0/1 99 112 53 59 0.53 intronic rs2277915 NBAS AR NM_015909 exon19 c.186663+47A>G 0.374601 0.1825 0.538444 0.5555 0.1668 Uncertain 2_15519658_A->G 2 15519658 15519658 A G snp 320.77 0/1 99 33 20 13 0.39 intronic rs192667981 NBAS AR NM_015909 exon23 c.212554-67A>G 0.00139776 0.0069 Uncertain 2_15519992_G->T 2 15519992 15519992 G T snp 696.77 0/1 99 73 41 32 0.44 intronic rs2058866 NBAS AR NM_015909 exon23 c.212784+37G>T 0.517372 0.2232 0.642692 0.6086 0.2253 Uncertain 2_15523266_A->T 2 15523266 15523266 A T snp 255.8 1/1 21 9 0 9 1.0 intronic rs6756934 NBAS AR NM_015909 exon24 c.216167-72A>T 0.982029 0.999 Uncertain 2_15523308_A->- 2 15523308 15523308 A - indel 303.73 0/1 99 26 13 13 0.5 intronic rs3834149 NBAS AR NM_015909 exon24 c.216167-30delA 0.491014 0.1696 0.6009 0.1691 Uncertain 2_15523549_T->C 2 15523549 15523549 T C snp 338.77 0/1 99 22 10 12 0.55 intronic rs3755129 NBAS AR NM_015909 exon24 c.216270+108T>C 0.517372 0.2232 Uncertain 2_15533689_T->C 2 15533689 15533689 T C snp 801.77 0/1 99 32 8 24 0.75 intronic rs2380650 NBAS AR NM_015909 exon25 c.227179-661T>C 0.527955 0.2242 Uncertain 2_15533734_-->AAATGAAAGCGTATGTCTACAC 2 15533734 15533734 - AAATGAAAGCGTATGTCTACAC indel 5749.73 0/1 99 60 22 38 0.63 intronic rs139494535 NBAS AR NM_015909 exon25 c.227179-616insAAATGAAAGCGTATGTCTACAC Uncertain 2_15533779_G->A 2 15533779 15533779 G A snp 1588.77 0/1 99 106 39 67 0.63 intronic rs9710889 NBAS AR NM_015909 exon25 c.227179-571G>A 0.530152 0.2242 0.6246 0.2293 Uncertain 2_15533884_C->A 2 15533884 15533884 C A snp 645.77 0/1 99 49 22 27 0.55 intronic rs9710962 NBAS AR NM_015909 exon25 c.227179-466C>A 0.528155 0.2242 0.6203 0.2313 Uncertain 2_15533895_A->G 2 15533895 15533895 A G snp 519.77 0/1 99 40 20 20 0.5 intronic rs13417550 NBAS AR NM_015909 exon25 c.227179-455A>G 0.482029 0.1706 0.5979 0.1704 Uncertain 2_15533899_A->G 2 15533899 15533899 A G snp 522.77 0/1 99 39 19 20 0.51 intronic rs11689153 NBAS AR NM_015909 exon25 c.227179-451A>G 0.517572 0.2242 0.6091 0.2267 Uncertain 2_15534269_A->G 2 15534269 15534269 A G snp 80.77 0/1 67 5 2 3 0.6 intronic rs117923116 NBAS AR NM_015909 exon25 c.227179-81A>G 0.00219649 0.0089 Uncertain 2_15542159_A->G 2 15542159 15542159 A G snp 37.77 0/1 66 6 4 2 0.33 intronic rs6733647 NBAS AR NM_015909 exon27 c.235120-132A>G 0.539936 0.2252 Uncertain 2_15564718_T->C 2 15564718 15564718 T C snp 269.77 0/1 99 17 7 10 0.59 intronic rs10929367 NBAS AR NM_015909 exon30 c.257421+126T>C 0.509984 0.1696 Uncertain 2_15567649_T->C 2 15567649 15567649 T C snp 313.77 0/1 91 14 3 11 0.79 intronic rs3796002 NBAS AR NM_015909 exon31 c.260663-185T>C 0.537141 0.2232 Uncertain 2_15601287_-->T 2 15601287 15601287 - T indel 631.73 0/1 99 43 25 18 0.42 intronic rs11411624 NBAS AR NM_015909 exon32 c.294153-37insT 0.525359 0.2222 0.647604 0.6055 0.2130 Uncertain 2_15601441_C->T 2 15601441 15601441 C T snp 1575.77 0/1 99 205 123 82 0.4 exonic rs7590340 NBAS AR synonymous SNV NM_015909 exon21 c.G2223A p.L741L 0.523562 0.2222 0.649316 0.6049 0.2117 Uncertain 2_15601574_C->T 2 15601574 15601574 C T snp 133.77 0/1 99 15 10 5 0.33 intronic rs7590458 NBAS AR NM_015909 exon32 c.294290+113C>T 0.525359 0.2222 Uncertain 2_15607842_T->C 2 15607842 15607842 T C snp 686.77 0/1 99 60 29 31 0.52 exonic rs4668909 NBAS AR nonsynonymous SNV NM_015909 exon18 c.A1964G p.K655R 0.360623 0.1617 0.524762 0.5505 0.1531 0 D 0.0 P -0.985 T 0.0 T 0.002 T Pathogenic 2_15608013_C->A 2 15608013 15608013 C A snp 160.77 0/1 99 12 5 7 0.58 intronic rs4668910 NBAS AR NM_015909 exon35 c.300757+85C>A 0.539936 0.2222 Uncertain 2_15614404_T->C 2 15614404 15614404 T C snp 1223.77 0/1 99 123 71 52 0.42 exonic rs13014906 NBAS AR synonymous SNV NM_015909 exon15 c.A1386G p.R462R 0.519369 0.2232 0.645625 0.6050 0.2167 Uncertain 2_15615704_T->C 2 15615704 15615704 T C snp 44.77 0/1 31 3 1 2 0.67 intronic rs35237017 NBAS AR NM_015909 exon39 c.308639-106T>C 0.360623 0.1617 Uncertain 2_15615910_A->G 2 15615910 15615910 A G snp 1719.77 0/1 99 175 101 74 0.42 exonic rs1990754 NBAS AR synonymous SNV NM_015909 exon14 c.T1242C p.S414S 0.492812 0.1696 0.636322 0.5909 0.1558 Uncertain 2_15616013_C->G 2 15616013 15616013 C G snp 690.77 0/1 99 67 39 28 0.42 intronic rs1990755 NBAS AR NM_015909 exon39 c.308833+9C>G 0.492812 0.1696 0.634861 0.5941 0.1588 Uncertain 2_15616030_C->T 2 15616030 15616030 C T snp 663.77 0/1 99 58 33 25 0.43 intronic rs1990756 NBAS AR NM_015909 exon39 c.308833+26C>T 0.492013 0.1696 0.634266 0.5908 0.1612 Uncertain 2_15618339_G->A 2 15618339 15618339 G A snp 377.77 0/1 99 46 26 20 0.43 intronic rs1125534 NBAS AR NM_015909 exon40 c.311178-10G>A 0.527556 0.2222 0.652568 0.6066 0.2140 Uncertain 2_15623608_C->G 2 15623608 15623608 C G snp 212.77 0/1 99 18 11 7 0.39 intronic rs10201564 NBAS AR NM_015909 exon40 c.311242+5195C>G 0.528954 0.2222 Uncertain 2_15644107_C->A 2 15644107 15644107 C A snp 496.77 0/1 99 36 19 17 0.47 intronic rs3732002 NBAS AR NM_015909 exon42 c.337097-161C>A 0.429513 0.2113 Uncertain 2_15644111_C->T 2 15644111 15644111 C T snp 581.77 0/1 99 40 20 20 0.5 intronic rs3732003 NBAS AR NM_015909 exon42 c.337097-157C>T 0.476038 0.2192 Uncertain 2_15644401_C->T 2 15644401 15644401 C T snp 1500.77 0/1 99 85 32 53 0.62 intronic rs2287265 NBAS AR NM_015909 exon42 c.337166+64C>T 0.515974 0.2192 0.579282 Uncertain 2_15674686_T->C 2 15674686 15674686 T C snp 1674.77 0/1 99 163 87 76 0.47 exonic rs13029846 NBAS AR nonsynonymous SNV NM_015909 exon9 c.A727G p.I243V 0.389177 0.1617 0.551053 0.5553 0.1510 0 D 0.0 P -0.931 T 0.001 T 0.002 T Pathogenic 2_15676686_G->A 2 15676686 15676686 G A snp 1207.77 0/1 99 94 44 50 0.53 intronic rs10208972 NBAS AR NM_015909 exon45 c.369504+11G>A 0.538339 0.2202 0.666154 0.6076 0.2108 Uncertain 2_15678368_C->T 2 15678368 15678368 C T snp 307.77 0/1 99 30 14 16 0.53 intronic rs7595512 NBAS AR NM_015909 exon46 c.372175-978C>T 0.502596 0.1696 Uncertain 2_15678482_T->C 2 15678482 15678482 T C snp 796.77 0/1 99 76 38 38 0.5 intronic rs2380657 NBAS AR NM_015909 exon46 c.372175-864T>C 0.502396 0.1696 0.653336 0.6184 0.1879 Uncertain 2_15678502_A->- 2 15678502 15678502 A - indel 830.73 0/1 99 72 32 40 0.56 intronic rs5829509 NBAS AR NM_015909 exon46 c.372175-844delA 0.533347 0.2202 0.6154 0.2445 Uncertain 2_15679609_A->T 2 15679609 15679609 A T snp 124.77 0/1 99 9 3 6 0.67 intronic rs2058868 NBAS AR NM_015909 exon46 c.372309+129A>T 0.538339 0.2202 Uncertain 2_15691791_G->T 2 15691791 15691791 G T snp 999.77 0/1 99 83 42 41 0.49 intronic rs55977282 NBAS AR NM_015909 exon47 c.384489+131G>T 0.329273 0.6657 Uncertain 2_15691886_G->A 2 15691886 15691886 G A snp 309.77 0/1 99 17 6 11 0.65 intronic rs7572131 NBAS AR NM_015909 exon47 c.384489+226G>A 0.497804 0.1696 Uncertain 2_15694164_-->A 2 15694164 15694164 - A indel 3832.73 0/1 99 194 96 98 0.51 intronic rs34789730 NBAS AR NM_015909 exon49 c.387013-20insA 0.538538 0.2202 0.667146 0.6108 0.2145 Uncertain 2_15731998_A->G 2 15731998 15731998 A G snp 2315.77 1/1 99 86 0 86 1.0 UTR5 rs10221770 DDX1 AU 0.770168 0.869 0.689118 Uncertain 2_15732238_G->C 2 15732238 15732238 G C snp 1611.77 1/1 99 50 0 50 1.0 intronic rs73915402 DDX1 AU NM_004939 exon1 c.16+165G>C 0.314896 0.1935 Uncertain 2_15737480_C->A 2 15737480 15737480 C A snp 904.77 1/1 66 31 0 31 1.0 intronic rs2302931 DDX1 AU NM_004939 exon5 c.5441-18C>A 0.292332 0.1935 0.239997 0.2167 0.1947 Uncertain 2_15737698_G->A 2 15737698 15737698 G A snp 309.78 1/1 24 10 0 10 1.0 intronic rs2302932 DDX1 AU NM_004939 exon5 c.5538+103G>A 0.500599 0.2867 Uncertain 2_15743816_G->A 2 15743816 15743816 G A snp 99.28 1/1 9 3 0 3 1.0 intronic rs6746074 DDX1 AU NM_004939 exon9 c.11880-121G>A 0.292532 0.1944 Uncertain 2_15744123_T->G 2 15744123 15744123 T G snp 998.77 1/1 72 31 0 31 1.0 intronic rs3213793 DDX1 AU NM_004939 exon9 c.11957+109T>G 0.292532 0.1944 Uncertain 2_15747393_C->T 2 15747393 15747393 C T snp 5056.77 1/1 99 191 0 191 1.0 exonic rs10929378 DDX1 AU synonymous SNV NM_004939 exon13 c.C912T p.N304N 0.744808 0.869 0.654160 0.6428 0.8911 Uncertain 2_15753307_-->T 2 15753307 15753307 - T indel 196.74 1/1 26 13 1 12 0.92 intronic rs3217220 DDX1 AU NM_004939 exon14 c.21290-40insT 0.3210 0.2967 Uncertain 2_15753482_C->G 2 15753482 15753482 C G snp 492.77 1/1 36 21 0 21 1.0 intronic rs2302935 DDX1 AU NM_004939 exon14 c.21351+74C>G 0.292732 0.1944 Uncertain 2_15758293_T->C 2 15758293 15758293 T C snp 997.77 1/1 72 40 0 40 1.0 intronic rs3770466 DDX1 AU NM_004939 exon16 c.26247-11T>C 0.293331 0.1944 0.241923 0.2079 0.1887 Uncertain 2_15763788_C->T 2 15763788 15763788 C T snp 650.77 1/1 48 20 0 20 1.0 intronic rs41264163 DDX1 AU NM_004939 exon19 c.31649+82C>T 0.288139 0.1915 Uncertain 2_15768847_T->- 2 15768847 15768847 T - indel 3099.73 1/1 99 101 0 101 1.0 intronic rs3835049 DDX1 AU NM_004939 exon22 c.36777+13delT 0.2092 0.1895 Uncertain 2_15770061_G->A 2 15770061 15770061 G A snp 243.8 1/1 21 8 0 8 1.0 intronic rs2302937 DDX1 AU NM_004939 exon25 c.38056-52G>A 0.290535 0.1915 Uncertain 2_15770775_C->T 2 15770775 15770775 C T snp 214.84 1/1 18 7 0 7 1.0 intronic rs3770471 DDX1 AU NM_004939 exon26 c.38842-124C>T 0.288938 0.1915 Uncertain 2_15840505_C->A 2 15840505 15840505 C A snp 2716.77 1/1 99 91 0 91 1.0 ncRNA_intronic rs4668460 LOC101926966 AU 0.577476 0.494 0.6319 0.5041 Uncertain 2_15840522_G->T 2 15840522 15840522 G T snp 3292.77 1/1 99 120 0 120 1.0 ncRNA_exonic rs4668461 LOC101926966 AU 0.577476 0.494 0.6298 0.5021 Uncertain 2_15840645_T->C 2 15840645 15840645 T C snp 3169.77 1/1 99 112 0 112 1.0 ncRNA_exonic rs4668962 LOC101926966 AU 0.607428 0.494 0.6396 0.5041 -0.971 T Uncertain 2_15840782_G->A 2 15840782 15840782 G A snp 50.74 1/1 6 2 0 2 1.0 ncRNA_intronic rs4668462 LOC101926966 AU 0.577476 0.494 Uncertain 2_15841230_T->A 2 15841230 15841230 T A snp 385.77 1/1 30 10 0 10 1.0 ncRNA_intronic rs1421610 LOC101926966 AU 0.577676 0.494 Uncertain 2_15841288_G->A 2 15841288 15841288 G A snp 1284.77 1/1 93 39 1 38 0.97 ncRNA_intronic rs1421609 LOC101926966 AU 0.577276 0.494 Uncertain 2_16743453_A->C 2 16743453 16743453 A C snp 322.77 0/1 99 35 22 13 0.37 intronic rs6751062 FAM49A AU NM_030797 exon7 c.9206+44A>C 0.520567 0.245 0.558991 0.4550 0.2622 Uncertain 2_16746897_C->G 2 16746897 16746897 C G snp 284.77 0/1 88 12 3 9 0.75 intronic rs62122698 FAM49A AU NM_030797 exon9 c.12710-16C>G 0.23143 0.126 0.269568 0.2795 0.1248 Uncertain 2_17696573_C->T 2 17696573 17696573 C T snp 3324.77 1/1 99 116 0 116 1.0 exonic rs834514 RAD51AP2 AU nonsynonymous SNV NM_001099218 exon1 c.G3110A p.G1037D 0.580671 0.8849 0.511555 0.6441 0.8785 0.28 T 0.0 P -1.071 T 0.087 T 0.063 T Pathogenic 2_17698678_A->G 2 17698678 17698678 A G snp 2822.77 1/1 99 86 0 86 1.0 exonic rs665312 RAD51AP2 AU synonymous SNV NM_001099218 exon1 c.T1005C p.S335S 0.598842 0.8839 0.545131 0.6720 0.8784 Uncertain 2_17773524_G->A 2 17773524 17773524 G A snp 1243.77 1/1 90 41 0 41 1.0 intronic rs2680827 VSNL1 AU NM_003385 exon2 c.162+21G>A 0.704273 0.9881 0.612179 0.7350 0.9829 Uncertain 2_17913266_A->C 2 17913266 17913266 A C snp 1163.77 1/1 84 35 0 35 1.0 intronic rs2052746 SMC6 AU NM_001142286 exon23 c.66379+122A>C 1 1 Uncertain 2_17941423_T->G 2 17941423 17941423 T G snp 1370.77 1/1 99 44 0 44 1.0 intronic rs2555072 GEN1 AU NM_001130009 exon2 c.161+52T>G 0.708866 0.9554 0.579758 0.6821 0.9562 Uncertain 2_17942775_T->A 2 17942775 17942775 T A snp 5668.77 1/1 99 227 0 227 1.0 exonic rs1812152 GEN1 AU nonsynonymous SNV NM_182625 exon3 c.T274A p.S92T 0.813698 0.9861 0.671229 0.7138 0.9842 0.64 T 0.000 P -1.005 T 0.0 T 0.002 T Pathogenic 2_17954027_G->A 2 17954027 17954027 G A snp 3322.77 1/1 99 118 0 118 1.0 exonic rs300175 GEN1 AU nonsynonymous SNV NM_182625 exon8 c.G929A p.S310N 0.977037 1 0.983546 0.9932 0.9998 0.44 T 0.0 P -0.973 T 0.001 T 0.001 T Pathogenic 2_17954140_A->G 2 17954140 17954140 A G snp 760.77 1/1 57 24 0 24 1.0 intronic rs300176 GEN1 AU NM_001130009 exon8 c.12841+89A>G 0.771366 0.9861 Uncertain 2_17954421_C->G 2 17954421 17954421 C G snp 401.77 1/1 30 14 0 14 1.0 intronic rs300177 GEN1 AU NM_001130009 exon9 c.13189+22C>G 0.811502 0.9861 0.669819 0.7165 0.9843 Uncertain 2_17954647_T->G 2 17954647 17954647 T G snp 90.28 1/1 9 3 0 3 1.0 intronic rs300178 GEN1 AU NM_001130009 exon10 c.13356+81T>G 0.758187 0.9861 Uncertain 2_17959421_AC->- 2 17959421 17959422 AC - indel 300.75 1/1 24 11 0 11 1.0 intronic rs70964006 GEN1 AU NM_001130009 exon12 c.18120+91_18120+92delAC 0.426717 0.623 Uncertain 2_17959466_T->C 2 17959466 17959466 T C snp 46.77 0/1 33 3 1 2 0.67 intronic rs201314104 GEN1 AU NM_001130009 exon12 c.18120+136T>C 0.159545 0.2758 Uncertain 2_17962450_A->G 2 17962450 17962450 A G snp 3829.77 1/1 99 133 0 133 1.0 exonic rs300168 GEN1 AU synonymous SNV NM_182625 exon14 c.A1971G p.E657E 0.573882 0.9226 0.426111 0.5758 0.9234 Uncertain 2_17962518_C->T 2 17962518 17962518 C T snp 2957.77 1/1 99 98 0 98 1.0 exonic rs300169 GEN1 AU nonsynonymous SNV NM_182625 exon14 c.C2039T p.T680I 0.757987 0.9851 0.618714 0.6981 0.9843 0.96 T 0.0 P -0.997 T 0.0 T 0.0 T Pathogenic 2_17962994_AAGTT->- 2 17962994 17962998 AAGTT - indel 4473.73 0/1 99 164 95 69 0.42 exonic rs149936944 GEN1 AU frameshift deletion NM_182625 exon14 c.2515_2519del p.K839fs 0.0593051 0.1081 0.080911 0.0876 0.1278 Pathogenic 2_18112473_G->A 2 18112473 18112473 G A snp 5970.77 1/1 99 214 0 214 1.0 exonic rs4240213 KCNS3 AU synonymous SNV NM_002252 exon3 c.G198A p.E66E 0.941094 1 0.928110 0.9629 1 Uncertain 2_18113508_G->A 2 18113508 18113508 G A snp 2649.77 0/1 99 248 128 120 0.48 exonic rs3747516 KCNS3 AU synonymous SNV NM_002252 exon3 c.G1233A p.K411K 0.357029 0.4702 0.201830 0.2614 0.4569 Uncertain 2_18113623_A->G 2 18113623 18113623 A G snp 5031.77 1/1 99 170 0 170 1.0 exonic rs4832524 KCNS3 AU nonsynonymous SNV NM_002252 exon3 c.A1348G p.T450A 0.796126 0.9831 0.665847 0.7120 0.9794 1 T 0.000 P -0.934 T 0.0 T 0.0 T Pathogenic 2_18113789_G->A 2 18113789 18113789 G A snp 200.77 0/1 99 30 22 8 0.27 UTR3 rs3747515 KCNS3 AU 0.257788 0.37 0.294858 0.3166 0.3936 Uncertain 2_20096936_C->A 2 20096936 20096936 C A snp 61.77 0/1 90 10 7 3 0.3 intronic rs7563410 TTC32 AU NM_001008237 exon1 c.140+49C>A 0.140974 0.1746 0.083971 0.1142 0.1823 Uncertain 2_20097874_T->C 2 20097874 20097874 T C snp 1385.77 0/1 99 128 66 62 0.48 intronic rs12328613 TTC32 AU NM_001008237 exon2 c.1049+78T>C 0.281949 0.4058 Uncertain 2_20101487_G->A 2 20101487 20101487 G A snp 1107.77 0/1 99 93 44 49 0.53 exonic rs2304589 TTC32 AU synonymous SNV NM_001008237 exon1 c.C129T p.S43S 0.281749 0.4028 0.176534 0.2214 0.4204 Uncertain 2_20101717_A->G 2 20101717 20101717 A G snp 974.77 0/1 99 76 38 38 0.5 UTR5 rs2304588 TTC32 AU 0.124201 0.1746 Uncertain 2_20130145_T->G 2 20130145 20130145 T G snp 1227.77 0/1 99 95 45 50 0.53 intronic rs28502265 WDR35 AR NM_020779 exon3 c.16838-11T>G 0.142971 0.1736 0.093803 0.1148 0.1821 Uncertain 2_20131184_C->A 2 20131184 20131184 C A snp 1396.77 1/1 99 54 0 54 1.0 intronic rs1191779 WDR35 AR NM_020779 exon4 c.17852+14C>A 0.964856 0.999 0.964549 0.9879 0.9997 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000154143.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 2_20135283_T->C 2 20135283 20135283 T C snp 1786.77 0/1 99 197 108 89 0.45 exonic rs6741091 WDR35 AR synonymous SNV NM_001006657 exon22 c.A2529G p.E843E 0.510783 0.623 0.429725 0.4735 0.6424 Uncertain 2_20136292_G->A 2 20136292 20136292 G A snp 111.77 0/1 66 6 2 4 0.67 intronic rs6755153 WDR35 AR NM_020779 exon8 c.22808+166G>A 0.140775 0.1736 Uncertain 2_20137864_T->C 2 20137864 20137864 T C snp 140.77 0/1 99 15 9 6 0.4 intronic rs2293671 WDR35 AR NM_020779 exon9 c.24389+157T>C 0.141973 0.1736 Uncertain 2_20160209_G->A 2 20160209 20160209 G A snp 305.77 0/1 99 22 10 12 0.55 intronic rs10169398 WDR35 AR NM_020779 exon17 c.46996-105G>A 0.140974 0.1736 Uncertain 2_20173255_A->C 2 20173255 20173255 A C snp 947.77 1/1 69 35 0 35 1.0 intronic rs10153717 WDR35 AR NM_020779 exon20 c.60005-68A>C 0.73143 0.8819 Uncertain 2_20189015_T->C 2 20189015 20189015 T C snp 2961.77 0/1 99 249 123 126 0.51 exonic rs1060742 WDR35 AR nonsynonymous SNV NM_001006657 exon2 c.A53G p.Q18R 0.11861 0.1736 0.065431 0.1065 0.1822 0.57 T 1.000 P -1.030 T 0.0 T 0.0 T Pathogenic 2_20189089_C->T 2 20189089 20189089 C T snp 2041.77 0/1 99 161 73 88 0.55 intronic rs3731663 WDR35 AR NM_020779 exon26 c.75725+46C>T 0.621605 0.6518 0.568122 0.5468 0.6734 Uncertain 2_20192696_G->A 2 20192696 20192696 G A snp 44.77 0/1 33 3 1 2 0.67 ncRNA_intronic rs7569975 LOC101928222 AU 0.509185 0.622 Uncertain 2_20194036_G->C 2 20194036 20194036 G C snp 752.77 0/1 99 76 44 32 0.42 ncRNA_intronic rs3820949 LOC101928222 AU 0.509385 0.622 0.420462 0.5158 0.6682 Uncertain 2_20201922_T->C 2 20201922 20201922 T C snp 164.78 0/1 24 6 1 5 0.83 ncRNA_intronic rs55977150 LOC101928222 AU 0.166733 0.1964 Uncertain 2_20205355_G->A 2 20205355 20205355 G A snp 123.8 0/1 21 5 1 4 0.8 intronic rs3731668 MATN3 AR,AD NM_002381 exon7 c.12633-149G>A 0.0159744 0.0754 Uncertain 2_20205680_C->T 2 20205680 20205680 C T snp 3397.77 0/1 99 250 117 133 0.53 exonic rs28401180 MATN3 AR,AD synonymous SNV NM_002381 exon2 c.G615A p.E205E 0.524361 0.619 0.429966 0.4837 0.6456 Uncertain 2_20205848_G->A 2 20205848 20205848 G A snp 2378.77 0/1 99 201 106 95 0.47 exonic rs28598872 MATN3 AR,AD synonymous SNV NM_002381 exon2 c.C447T p.A149A 0.52476 0.619 0.436879 0.4754 0.6397 Uncertain 2_20233929_C->T 2 20233929 20233929 C T snp 77.77 0/1 99 8 4 4 0.5 intronic rs936509 LAPTM4A AU NM_014713 exon2 c.1112-148C>T 0.342053 0.4782 Uncertain 2_20234642_G->A 2 20234642 20234642 G A snp 589.77 0/1 99 51 29 22 0.43 intronic LAPTM4A AU NM_014713 exon3 c.1762-85G>A Uncertain 2_20240668_C->A 2 20240668 20240668 C A snp 1628.77 0/1 99 144 72 72 0.5 exonic rs3731673 LAPTM4A AU synonymous SNV NM_014713 exon2 c.G216T p.S72S 0.16893 0.3056 0.139935 0.1894 0.2906 Uncertain 2_20302443_AGAAGGAGAAGG->- 2 20302443 20302454 AGAAGGAGAAGG - indel 1451.73 0/1 99 20 8 12 0.6 intergenic LAPTM4A AU Uncertain 2_20302478_G->A 2 20302478 20302478 G A snp 194.77 0/1 99 35 22 13 0.37 intergenic rs148032589 LAPTM4A AU Uncertain 2_20302484_G->A 2 20302484 20302484 G A snp 490.77 0/1 99 39 16 23 0.59 intergenic rs62112186 LAPTM4A AU 0.34365 0.4355 Uncertain 2_20302490_G->A 2 20302490 20302490 G A snp 507.77 0/1 99 40 16 24 0.6 intergenic rs7586260 LAPTM4A AU 0.444489 0.498 Uncertain 2_20320480_G->A 2 20320480 20320480 G A snp 80.77 0/1 98 6 3 3 0.5 intergenic rs11885236 LAPTM4A AU 0.597444 0.5794 Uncertain 2_20401859_A->- 2 20401859 20401859 A - indel 190.73 0/1 99 28 11 17 0.61 UTR3 rs11350492 SDC1 AU 0.473043 0.5417 Uncertain 2_20403794_A->T 2 20403794 20403794 A T snp 3247.77 1/1 99 120 0 120 1.0 exonic rs10205485 SDC1 AU nonsynonymous SNV NM_002997 exon3 c.T407A p.L136Q 0.966853 1 0.964549 0.9902 1 0 D 0.0 P -0.991 T 0.0 T 0.0 T Pathogenic 2_20405050_A->C 2 20405050 20405050 A C snp 754.77 1/1 57 24 0 24 1.0 intronic rs6531225 SDC1 AU NM_002997 exon4 c.2577-53A>C 0.985024 1 0.985764 Uncertain 2_20423154_A->G 2 20423154 20423154 A G snp 1195.77 1/1 87 38 0 38 1.0 intronic rs4666375 SDC1 AU NM_002997 exon5 c.22036-1408A>G 0.998403 1 Uncertain 2_20494066_A->T 2 20494066 20494066 A T snp 339.77 0/1 99 25 12 13 0.52 intronic PUM2 AU NM_001282790 exon12 c.42791-70A>T Uncertain 2_20699625_G->A 2 20699625 20699625 G A snp 169.77 0/1 51 10 2 8 0.8 intergenic rs13010768 RHOB AU 0.338059 0.6171 Uncertain 2_20699667_C->G 2 20699667 20699667 C G snp 177.77 0/1 99 19 13 6 0.32 intergenic rs342089 RHOB AU 0.658546 0.381 Uncertain 2_20699997_C->T 2 20699997 20699997 C T snp 177.77 0/1 99 18 11 7 0.39 intergenic rs13017877 RHOB AU 0.336861 0.6121 Uncertain 2_20700786_C->T 2 20700786 20700786 C T snp 159.77 0/1 63 7 2 5 0.71 intergenic rs961496 RHOB AU 0.490415 0.7679 Uncertain 2_20700900_A->G 2 20700900 20700900 A G snp 1556.77 1/1 99 61 0 61 1.0 intergenic rs342088 RHOB AU 0.989617 1 Uncertain 2_20818454_T->A 2 20818454 20818454 T A snp 2552.77 1/1 99 98 0 98 1.0 UTR3 rs3732152 HS1BP3 AU 0.811502 0.9087 Uncertain 2_20818458_G->A 2 20818458 20818458 G A snp 2614.77 1/1 99 101 0 101 1.0 UTR3 rs3732151 HS1BP3 AU 0.385982 0.6002 Uncertain 2_20822218_T->C 2 20822218 20822218 T C snp 1181.77 1/1 87 39 0 39 1.0 intronic rs4666444 HS1BP3 AU NM_022460 exon2 c.4909-1437T>C 0.996006 1 Uncertain 2_20823612_A->G 2 20823612 20823612 A G snp 800.77 1/1 57 33 0 33 1.0 intronic rs13030108 HS1BP3 AU NM_022460 exon2 c.4909-43A>G 0.794129 0.9058 0.746802 0.8113 0.9129 Uncertain 2_20823724_T->C 2 20823724 20823724 T C snp 1113.77 1/1 81 39 0 39 1.0 exonic rs6531248 HS1BP3 AU synonymous SNV NM_022460 exon6 c.A852G p.P284P 0.996206 1 0.993003 0.9984 0.9999 0.992 P -1.039 T Likely benign 2_20823816_G->T 2 20823816 20823816 G T snp 824.77 1/1 60 34 0 34 1.0 intronic rs2305460 HS1BP3 AU NM_022460 exon2 c.5045+25G>T 0.46845 0.7222 0.339563 0.4414 0.7193 Uncertain 2_20823850_T->C 2 20823850 20823850 T C snp 665.77 1/1 48 26 0 26 1.0 intronic rs6733419 HS1BP3 AU NM_022460 exon2 c.5045+59T>C 0.996206 1 Uncertain 2_20824559_C->T 2 20824559 20824559 C T snp 2177.77 1/1 99 78 1 77 0.99 exonic rs2305457 HS1BP3 AU synonymous SNV NM_022460 exon5 c.G717A p.E239E 0.275559 0.4881 0.196217 0.2916 0.4979 0.000 P -0.910 T Likely benign 2_20824658_G->A 2 20824658 20824658 G A snp 1304.77 1/1 93 45 0 45 1.0 splicing rs10199441 HS1BP3 AU NM_022460 exon3 c.5906+6G>A 0.424121 0.6002 0.301553 0.3553 0.5977 Pathogenic 2_20824708_T->C 2 20824708 20824708 T C snp 758.77 1/1 57 24 0 24 1.0 intronic rs10191266 HS1BP3 AU NM_022460 exon3 c.5906+56T>C 0.473642 0.6022 Uncertain 2_20838318_G->A 2 20838318 20838318 G A snp 5187.77 1/1 99 188 0 188 1.0 exonic rs3796064 HS1BP3 AU synonymous SNV NM_022460 exon4 c.C501T p.F167F 0.359026 0.5565 0.249039 0.3160 0.5572 Uncertain 2_20838560_A->G 2 20838560 20838560 A G snp 425.77 1/1 33 11 0 11 1.0 intronic rs7596314 HS1BP3 AU NM_022460 exon4 c.19666+148A>G 0.996406 1 Uncertain 2_20870579_G->A 2 20870579 20870579 G A snp 947.77 0/1 99 67 26 41 0.61 exonic rs13013489 GDF7 AU synonymous SNV NM_182828 exon2 c.G747A p.R249R 0.807708 0.8313 0.854712 0.8199 0.8582 Uncertain 2_20871190_A->C 2 20871190 20871190 A C snp 3416.77 1/1 99 114 0 114 1.0 UTR3 rs4666457 GDF7 AU 0.999002 1 0.996874 0.9995 1 Uncertain 2_20884550_C->A 2 20884550 20884550 C A snp 1823.77 0/1 99 139 59 80 0.58 UTR3 rs11693849 C2orf43 AU 0.169129 0.0437 Uncertain 2_20939706_T->C 2 20939706 20939706 T C snp 1868.77 0/1 99 158 84 74 0.47 intronic rs2046325 C2orf43 AU NM_021925 exon3 c.53068-24T>C 0.292133 0.4544 0.003230 0.3250 0.4540 Uncertain 2_20939708_C->T 2 20939708 20939708 C T snp 4793.77 1/1 99 164 0 164 1.0 intronic rs653347 C2orf43 AU NM_021925 exon3 c.53068-22C>T 0.4375 0.501 0.239889 0.4504 0.4936 Uncertain 2_21225281_C->T 2 21225281 21225281 C T snp 1000.77 0/1 99 83 46 37 0.45 exonic rs1042034 APOB AR,AD nonsynonymous SNV NM_000384 exon29 c.G13013A p.S4338N 0.629593 0.2798 0.802972 0.7057 0.2804 1 T 0.000 P -0.975 T 0.0 T 0.0 T CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000116382.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 ID=CM133911;DIS=Total cholesterol levels, association with;TAG=FP;PUB=23482652 FP Pathogenic 2_21231524_G->A 2 21231524 21231524 G A snp 2977.77 0/1 99 250 134 116 0.46 exonic rs676210 APOB AR,AD nonsynonymous SNV NM_000384 exon26 c.C8216T p.P2739L 0.366214 0.7192 0.196525 0.2928 0.7217 0 D 1.0 P -1.071 T 1.0 D 0.999 D CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000116390.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 ID=CM980093;DIS=Hypocholesterolaemia, association with;TAG=DFP;PUB=9490296 DFP Pathogenic 2_21232803_T->C 2 21232803 21232803 T C snp 5787.77 1/1 99 195 0 195 1.0 exonic rs584542 APOB AR,AD nonsynonymous SNV NM_000384 exon26 c.A6937G p.I2313V 0.986222 0.998 0.981624 0.9950 0.9994 0.57 T 0.000 P -0.985 T 0.002 T 0.003 T Pathogenic 2_21235475_T->C 2 21235475 21235475 T C snp 2709.77 1/1 99 96 0 96 1.0 exonic rs568413 APOB AR,AD nonsynonymous SNV NM_000384 exon26 c.A4265G p.Y1422C 1 1 0.999692 0.9999 1 0.46 T 0.000 P -1.008 T 0.0 T 0.0 T Pathogenic 2_21236482_A->G 2 21236482 21236482 A G snp 808.77 1/1 60 22 0 22 1.0 intronic rs488329 APOB AR,AD NM_000384 exon5 c.11804+77A>G 0.991014 1 Uncertain 2_21237544_G->A 2 21237544 21237544 G A snp 622.77 0/1 99 49 23 26 0.53 intronic rs673548 APOB AR,AD NM_000384 exon6 c.12864+79G>A 0.385783 0.7123 Uncertain 2_21250914_G->A 2 21250914 21250914 G A snp 2844.77 1/1 99 103 0 103 1.0 exonic rs679899 APOB AR,AD nonsynonymous SNV NM_000384 exon14 c.C1853T p.A618V 0.485024 0.8641 0.365524 0.4857 0.8565 0.23 T 1.000 P -0.928 T 1.0 D 0.998 D CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000116384.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 ID=CM984191;DIS=Altered APOB levels;TAG=FP;PUB=9690921 FP Pathogenic 2_21251040_T->G 2 21251040 21251040 T G snp 216.84 1/1 18 6 0 6 1.0 intronic rs570877 APOB AR,AD NM_000384 exon16 c.26336+103T>G 0.874002 0.9623 Uncertain 2_21252366_AGGA->- 2 21252366 21252369 AGGA - indel 1420.73 1/1 81 27 0 27 1.0 intronic rs533954660 APOB AR,AD NM_000384 exon18 c.27909-144_27909-141delAGGA 0.519569 0.8601 Uncertain 2_21252534_G->A 2 21252534 21252534 G A snp 3077.77 0/1 99 250 127 123 0.49 exonic rs13306194 APOB AR,AD nonsynonymous SNV NM_000384 exon12 c.C1594T p.R532W 0.0273562 0.128 0.000231 0.0114 0.1403 0 D 0.981 D -0.726 T 1.0 D 1.0 D ID=CM135480;DIS=Hypercholesterolaemia, association with;TAG=DP;PUB=23593297 DP Pathogenic 2_21255573_-->CATCT 2 21255573 21255573 - CATCT indel 3250.73 1/1 99 40 0 40 1.0 intronic rs10701091 APOB AR,AD NM_000384 exon20 c.30852+120insCATCT 0.875 0.9623 Uncertain 2_21263900_G->A 2 21263900 21263900 G A snp 544.77 0/1 99 52 25 27 0.52 exonic rs1367117 APOB AR,AD nonsynonymous SNV NM_000384 exon4 c.C293T p.T98I 0.169329 0.1151 0.250500 0.2619 0.1200 0.1 T 0.186 P -1.046 T 0.125 T 0.085 T CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000116386.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 ID=CM020623;DIS=Increased cholesterol levels;TAG=FP;PUB=11940087 FP Pathogenic 2_21360583_A->G 2 21360583 21360583 A G snp 1060.77 0/1 99 96 52 44 0.46 intergenic rs312966 APOB AR,AD 0.515375 0.7391 0.4937 0.7332 0.76 T -1.000 T Uncertain 2_23755208_A->G 2 23755208 23755208 A G snp 48.74 1/1 6 2 0 2 1.0 intronic rs748857 KLHL29 AU 0.648562 0.6002 Uncertain 2_23860168_G->A 2 23860168 23860168 G A snp 727.77 0/1 99 102 69 33 0.32 intronic rs2288697 KLHL29 AU NM_052920 exon4 c.76942-1840G>A 0.184305 0.4802 Uncertain 2_23860216_C->A 2 23860216 23860216 C A snp 527.77 0/1 99 81 54 27 0.33 intronic rs2288698 KLHL29 AU NM_052920 exon4 c.76942-1792C>A 0.184904 0.4802 Uncertain 2_23860259_A->G 2 23860259 23860259 A G snp 303.77 0/1 99 49 32 17 0.35 intronic rs2288699 KLHL29 AU NM_052920 exon4 c.76942-1749A>G 0.185503 0.4802 Uncertain 2_23861886_C->T 2 23861886 23861886 C T snp 86.78 0/1 24 4 1 3 0.75 intronic rs870314 KLHL29 AU NM_052920 exon4 c.76942-122C>T 0.185304 0.4772 Uncertain 2_23865085_T->C 2 23865085 23865085 T C snp 803.77 0/1 99 63 35 28 0.44 intronic rs4665623 KLHL29 AU NM_052920 exon5 c.80141-122T>C 0.184105 0.4732 Uncertain 2_23865109_C->A 2 23865109 23865109 C A snp 1100.77 0/1 99 80 42 38 0.47 intronic rs3806508 KLHL29 AU NM_052920 exon5 c.80141-98C>A 0.185304 0.4722 Uncertain 2_23865139_C->T 2 23865139 23865139 C T snp 1424.77 0/1 99 131 67 64 0.49 intronic rs3806509 KLHL29 AU NM_052920 exon5 c.80141-68C>T 0.183906 0.4722 Uncertain 2_23865176_G->A 2 23865176 23865176 G A snp 1830.77 0/1 99 175 94 81 0.46 intronic rs3806510 KLHL29 AU NM_052920 exon5 c.80141-31G>A 0.180511 0.4722 0.048620 0.0863 0.3870 Uncertain 2_23865260_T->C 2 23865260 23865260 T C snp 5059.77 1/1 99 181 0 181 1.0 exonic rs642931 KLHL29 AU synonymous SNV NM_052920 exon5 c.T480C p.I160I 0.876198 0.999 0.776610 0.7865 0.9937 Uncertain 2_23865908_G->C 2 23865908 23865908 G C snp 1012.77 0/1 99 88 45 43 0.49 intronic rs527176 KLHL29 AU NM_052920 exon5 c.80654+188G>C 0.454273 0.4276 0.5293 0.5677 Uncertain 2_23866082_C->T 2 23866082 23866082 C T snp 187.77 0/1 99 29 19 10 0.34 intronic rs3731615 KLHL29 AU NM_052920 exon5 c.80654+362C>T 0.186102 0.4802 0.1003 0.2895 Uncertain 2_23866090_-->GCA 2 23866090 23866090 - GCA indel 305.73 0/1 99 27 15 12 0.44 intronic rs150707812 KLHL29 AU NM_052920 exon5 c.80654+370insGCA 0.185304 0.4782 0.0798 0.2333 Uncertain 2_23919375_C->T 2 23919375 23919375 C T snp 1176.77 1/1 84 38 0 38 1.0 exonic rs3795942 KLHL29 AU synonymous SNV NM_052920 exon11 c.C2097T p.H699H 0.575479 0.7808 0.505037 0.5805 0.7377 1.000 P -1.030 T Likely benign 2_23925980_T->C 2 23925980 23925980 T C snp 1647.77 1/1 99 49 0 49 1.0 intronic rs12466745 KLHL29 AU NM_052920 exon12 c.140989-75T>C 0.585463 0.7887 Uncertain 2_23926659_T->C 2 23926659 23926659 T C snp 4659.77 1/1 99 171 0 171 1.0 exonic rs3795948 KLHL29 AU synonymous SNV NM_052920 exon13 c.T2370C p.A790A 0.552915 0.7837 0.461892 0.5136 0.7262 Uncertain 2_23929280_C->T 2 23929280 23929280 C T snp 381.77 0/1 99 33 19 14 0.42 intronic rs146111653 KLHL29 AU NM_052920 exon14 c.144284-70C>T 0.00119808 0.006 Uncertain 2_23985329_A->T 2 23985329 23985329 A T snp 393.77 1/1 30 10 0 10 1.0 intronic rs2712070 ATAD2B AU NM_017552 exon5 c.10301+113A>T 0.748602 0.8452 Uncertain 2_24009163_A->G 2 24009163 24009163 A G snp 1242.77 0/1 99 87 42 45 0.52 intronic rs9636434 ATAD2B AU NM_017552 exon8 c.34178+70A>G 0.382588 0.6389 Uncertain 2_24042550_C->T 2 24042550 24042550 C T snp 298.78 1/1 24 9 0 9 1.0 intronic rs2879639 ATAD2B AU NM_017552 exon12 c.67701-66C>T 0.963259 0.9921 Uncertain 2_24055058_G->C 2 24055058 24055058 G C snp 7074.77 1/1 99 247 0 247 1.0 intronic rs10432637 ATAD2B AU NM_017552 exon15 c.81873-1730G>C 0.931909 0.9921 0.9470 0.9816 Uncertain 2_24108652_T->C 2 24108652 24108652 T C snp 5822.77 1/1 99 217 0 217 1.0 exonic rs7579201 ATAD2B AU nonsynonymous SNV NM_001242338 exon5 c.A620G p.Q207R 1 1 0.999501 0.9998 1 1 T 0.001 P -0.946 T 0.002 T 0.002 T Pathogenic 2_24110611_G->C 2 24110611 24110611 G C snp 141.03 1/1 12 4 0 4 1.0 intronic rs17762465 ATAD2B AU NM_017552 exon25 c.135786-90G>C 0.515176 0.7768 Uncertain 2_24110911_-->A 2 24110911 24110911 - A indel 270.73 1/1 33 22 0 22 1.0 intronic rs34093830 ATAD2B AU NM_017552 exon25 c.135940+56insA 0.50599 0.7679 Uncertain 2_24193947_G->A 2 24193947 24193947 G A snp 56.74 1/1 6 2 0 2 1.0 intronic rs10166036 UBXN2A AU NM_181713 exon3 c.12961-198G>A 0.771565 0.8442 Uncertain 2_24194314_C->T 2 24194314 24194314 C T snp 991.77 1/1 72 31 0 31 1.0 intronic rs1533440 UBXN2A AU NM_181713 exon3 c.13100+30C>T 0.576278 0.7768 0.491618 0.5962 0.7755 Uncertain 2_24246175_C->T 2 24246175 24246175 C T snp 3735.77 1/1 99 128 0 128 1.0 intronic rs12989842 MFSD2B AU NM_001080473 exon11 c.13143+66C>T 0.772963 0.8899 Uncertain 2_24246679_A->G 2 24246679 24246679 A G snp 3245.77 1/1 99 100 0 100 1.0 intronic rs925228 MFSD2B AU NM_001080473 exon12 c.13630+83A>G 0.785743 0.8968 Uncertain 2_24255862_C->G 2 24255862 24255862 C G snp 1843.77 1/1 99 61 0 61 1.0 intronic rs10179142 C2orf44 AU NM_025203 exon2 c.2014+46C>G 0.9998 1 0.999077 0.9998 1 Uncertain 2_24369674_C->T 2 24369674 24369674 C T snp 4880.77 1/1 99 185 0 185 1.0 exonic rs11693860 FAM228B AU unknown 0.846046 0.9236 0.9140 0.9343 Uncertain 2_24384424_T->C 2 24384424 24384424 T C snp 3863.77 1/1 99 132 0 132 1.0 exonic rs4665667 FAM228B AU unknown 0.813898 0.9127 0.821507 0.8837 0.9119 Uncertain 2_24387178_-->C 2 24387178 24387178 - C indel 1524.73 1/1 99 40 0 40 1.0 exonic rs113322110 FAM228B AU unknown 0.962061 0.9335 0.970857 0.9666 0.9359 Uncertain 2_24388096_G->A 2 24388096 24388096 G A snp 290.78 1/1 24 10 0 10 1.0 intronic rs4665668 FAM228B AU NM_001145710 exon9 c.39973+892G>A 0.813698 0.9127 Uncertain 2_24390517_G->A 2 24390517 24390517 G A snp 2891.77 1/1 99 110 0 110 1.0 exonic rs2288072 FAM228B AU unknown 0.586661 0.7788 0.551029 0.6149 0.7564 0 D 0.000 P -0.959 T 0.97 D 0.441 D Uncertain 2_24395269_T->C 2 24395269 24395269 T C snp 305.78 1/1 24 9 0 9 1.0 intergenic rs918802 FAM228B AU 0.814097 0.9127 Uncertain 2_24395294_T->C 2 24395294 24395294 T C snp 679.77 1/1 51 25 0 25 1.0 intergenic rs918803 FAM228B AU 0.814097 0.9127 Uncertain 2_24395506_T->C 2 24395506 24395506 T C snp 1485.77 1/1 99 52 0 52 1.0 intergenic rs889830 FAM228B AU 0.813498 0.9127 0.8614 0.9260 Uncertain 2_24398281_T->G 2 24398281 24398281 T G snp 1620.77 1/1 99 59 0 59 1.0 intronic rs2042467 FAM228A AU 0.854633 0.9286 Uncertain 2_24398446_A->T 2 24398446 24398446 A T snp 2361.77 1/1 99 91 0 91 1.0 splicing rs2042468 FAM228A AU NM_001040710 exon2 c.93+4A>T 0.622005 0.7768 0.582208 0.6432 0.7351 Pathogenic 2_24402127_-->AA 2 24402127 24402127 - AA indel 1625.73 1/1 90 32 0 32 1.0 intronic rs61193015 FAM228A AU NM_001040710 exon3 c.2390+1388insAA 0.96226 0.9415 0.9715 0.9559 Uncertain 2_24427832_A->G 2 24427832 24427832 A G snp 287.77 0/1 99 17 8 9 0.53 intergenic rs3731627 FAM228A AU 0.0878594 0.2202 Uncertain 2_24432211_C->T 2 24432211 24432211 C T snp 1378.77 1/1 99 44 0 44 1.0 intergenic rs2303293 FAM228A AU 0.856829 0.9167 Uncertain 2_24432620_A->G 2 24432620 24432620 A G snp 1913.77 1/1 99 59 0 59 1.0 intergenic rs2303294 FAM228A AU 0.676917 0.7877 Uncertain 2_24432667_C->G 2 24432667 24432667 C G snp 3490.77 1/1 99 118 0 118 1.0 intergenic rs2303295 FAM228A AU 0.859625 0.9196 0.840458 0.8981 0.9172 Uncertain 2_24440997_A->T 2 24440997 24440997 A T snp 1485.77 1/1 99 43 0 43 1.0 intergenic rs2551183 FAM228A AU 0.96905 0.9931 Uncertain 2_24475205_T->C 2 24475205 24475205 T C snp 4983.77 1/1 99 173 1 172 0.99 intronic rs4450560 ITSN2 AU NM_147152 exon6 c.31451-8T>C 0.998203 1 0.998770 0.9984 1 Uncertain 2_24484150_T->C 2 24484150 24484150 T C snp 812.77 1/1 60 26 0 26 1.0 intronic rs4665680 ITSN2 AU NM_147152 exon9 c.40357+31T>C 0.970847 0.9931 0.977381 0.9793 0.9968 Uncertain 2_24493656_T->C 2 24493656 24493656 T C snp 1083.77 0/1 99 78 31 47 0.6 intronic rs139685390 ITSN2 AU NM_147152 exon11 c.49875+19T>C 0.00199681 0.0099 0.0011 0.0150 Uncertain 2_24498839_T->G 2 24498839 24498839 T G snp 348.78 1/1 27 10 0 10 1.0 intronic rs4411652 ITSN2 AU NM_147152 exon13 c.54956+121T>G 0.973043 0.9931 Uncertain 2_24521493_C->T 2 24521493 24521493 C T snp 1786.77 1/1 99 61 0 61 1.0 intronic rs7559133 ITSN2 AU NM_147152 exon18 c.77771-40C>T 0.973243 0.9931 0.977933 0.9792 0.9970 Uncertain 2_24521766_C->T 2 24521766 24521766 C T snp 348.78 1/1 27 11 0 11 1.0 intronic rs6707600 ITSN2 AU NM_147152 exon18 c.77921+83C>T 0.971446 0.9931 Uncertain 2_24550868_A->- 2 24550868 24550868 A - indel 1597.73 1/1 99 81 6 75 0.93 intronic rs537497285 ITSN2 AU NM_147152 exon29 c.107158-52delA 0.603435 0.6002 Uncertain 2_24896389_T->G 2 24896389 24896389 T G snp 1164.77 1/1 84 39 0 39 1.0 intronic rs4665712 NCOA1 AU NM_003743 exon5 c.14786+57T>G 0.583267 0.7004 Uncertain 2_24905927_G->C 2 24905927 24905927 G C snp 3724.77 1/1 99 151 0 151 1.0 exonic rs11125744 NCOA1 AU synonymous SNV NM_003743 exon6 c.G462C p.T154T 0.80651 0.996 0.786406 0.8689 0.9929 Uncertain 2_24933689_A->C 2 24933689 24933689 A C snp 704.77 1/1 54 19 0 19 1.0 intronic rs7593430 NCOA1 AU NM_003743 exon12 c.52253-110A>C 0.834465 0.996 Uncertain 2_24952740_-->T 2 24952740 24952740 - T indel 719.73 1/1 51 17 0 17 1.0 intronic rs11439247 NCOA1 AU NM_003743 exon15 c.71138+56insT 0.906949 0.995 Uncertain 2_24974945_T->G 2 24974945 24974945 T G snp 2094.77 1/1 99 77 0 77 1.0 exonic rs11125763 NCOA1 AU synonymous SNV NM_003743 exon18 c.T3801G p.L1267L 0.836062 0.996 0.818930 0.8784 0.9930 Uncertain 2_25013523_G->C 2 25013523 25013523 G C snp 46.74 1/1 6 2 0 2 1.0 intronic rs12471620 PTRHD1 AU NM_001013663 exon1 c.171+73G>C 0.43151 0.5794 Uncertain 2_25022443_A->- 2 25022443 25022443 A - indel 122.8 1/1 18 6 0 6 1.0 intronic rs34475213 CENPO AU NM_024322 exon3 c.5755-100delA 0.60024 0.6825 Uncertain 2_25037042_G->A 2 25037042 25037042 G A snp 632.77 1/1 48 16 0 16 1.0 intronic rs1003064 CENPO AU NM_024322 exon4 c.20456-202G>A 0.569489 0.7133 Uncertain 2_25038268_G->A 2 25038268 25038268 G A snp 218.84 1/1 18 6 0 6 1.0 intronic rs2082881 CENPO AU NM_024322 exon5 c.21577-97G>A 0.654952 0.7877 Uncertain 2_25039804_G->A 2 25039804 25039804 G A snp 352.78 1/1 27 11 0 11 1.0 intronic rs2099505 CENPO AU NM_024322 exon6 c.22898+118G>A 0.954673 1 Uncertain 2_25040346_G->A 2 25040346 25040346 G A snp 46.74 1/1 6 2 0 2 1.0 intronic rs11680229 CENPO AU NM_024322 exon7 c.23750-192G>A 0.445487 0.6062 Uncertain 2_25040423_G->A 2 25040423 25040423 G A snp 1586.77 1/1 99 51 0 51 1.0 intronic rs10178420 CENPO AU NM_024322 exon7 c.23750-115G>A 0.688498 0.7877 Uncertain 2_25042625_C->G 2 25042625 25042625 C G snp 93.28 1/1 9 3 0 3 1.0 UTR3 rs1044040 ADCY3 AU 0.82488 0.9931 Uncertain 2_25046090_T->C 2 25046090 25046090 T C snp 1035.77 1/1 75 36 1 35 0.97 exonic rs1127568 ADCY3 AU synonymous SNV NM_004036 exon17 c.A2871G p.S957S 0.691294 0.879 0.625404 0.6808 0.8577 Uncertain 2_25046355_T->C 2 25046355 25046355 T C snp 503.77 1/1 39 17 0 17 1.0 intronic rs4665273 ADCY3 AU NM_004036 exon5 c.3424+131T>C 0.572684 0.7133 Uncertain 2_25047408_A->G 2 25047408 25047408 A G snp 2481.77 1/1 99 95 1 94 0.99 splicing rs7604576 ADCY3 AU NM_004036 exon6 c.4605+3A>G 0.521565 0.6736 0.450254 0.5380 0.6406 Pathogenic 2_25048847_A->G 2 25048847 25048847 A G snp 2533.77 1/1 99 76 0 76 1.0 intronic rs2289090 ADCY3 AU NM_004036 exon7 c.6113-66A>G 0.659744 0.879 Uncertain 2_25049159_A->G 2 25049159 25049159 A G snp 180.9 1/1 15 6 0 6 1.0 intronic rs934611 ADCY3 AU NM_004036 exon7 c.6195+164A>G 0.953874 1 Uncertain 2_25050977_T->C 2 25050977 25050977 T C snp 2325.77 1/1 99 79 0 79 1.0 exonic rs7566416 ADCY3 AU synonymous SNV NM_004036 exon13 c.A2226G p.E742E 0.659545 0.878 0.590727 0.6712 0.8567 Uncertain 2_25062634_A->G 2 25062634 25062634 A G snp 218.84 1/1 18 6 0 6 1.0 intronic rs11125810 ADCY3 AU NM_004036 exon16 c.19941-107A>G 0.830072 0.994 Uncertain 2_25064079_G->A 2 25064079 25064079 G A snp 185.9 1/1 15 6 0 6 1.0 intronic rs2241757 ADCY3 AU NM_004036 exon17 c.21327-48G>A 0.371805 0.621 0.254990 0.3468 0.6089 Uncertain 2_25064193_G->A 2 25064193 25064193 G A snp 1111.77 1/1 81 41 0 41 1.0 exonic rs2241759 ADCY3 AU synonymous SNV NM_004036 exon5 c.C1131T p.P377P 0.510583 0.7421 0.446684 0.5761 0.7558 Uncertain 2_25100738_C->A 2 25100738 25100738 C A snp 1221.77 1/1 90 43 0 43 1.0 intronic rs10865315 ADCY3 AU NM_004036 exon20 c.52788+5150C>A 0.514976 0.4821 Uncertain 2_25100902_C->G 2 25100902 25100902 C G snp 2074.77 1/1 99 74 0 74 1.0 intronic rs2033656 ADCY3 AU NM_004036 exon20 c.52788+5314C>G 0.553514 0.4841 Uncertain 2_25141538_A->G 2 25141538 25141538 A G snp 3445.77 0/1 99 250 124 126 0.5 exonic rs11676272 ADCY3 AU nonsynonymous SNV NM_004036 exon1 c.T319C p.S107P 0.566893 0.4286 0.596648 0.4798 0.4337 0.29 T 0.000 P -0.994 T 0.0 T 0.0 T ID=CM122009;DIS=Body mass index, association with;TAG=DP;PUB=22344219 DP Pathogenic 2_25194741_G->A 2 25194741 25194741 G A snp 6434.77 1/1 99 245 0 245 1.0 exonic rs7593864 DNAJC27 AU synonymous SNV NM_001198559 exon1 c.C33T p.P11P 0.712859 0.744 0.737890 0.7508 0.7467 Uncertain 2_25314186_T->C 2 25314186 25314186 T C snp 1612.77 0/1 99 130 58 72 0.55 intronic rs2918630 EFR3B AU NM_014971 exon2 c.49012-7T>C 0.583267 0.7887 0.456198 0.5302 0.7797 Uncertain 2_25359254_C->T 2 25359254 25359254 C T snp 123.78 0/1 27 5 1 4 0.8 intronic rs10202934 EFR3B AU NM_014971 exon14 c.94210-137C>T 0.39996 0.5923 Uncertain 2_25359422_G->A 2 25359422 25359422 G A snp 666.77 0/1 99 71 40 31 0.44 exonic rs3731631 EFR3B AU synonymous SNV NM_014971 exon14 c.G1515A p.L505L 0.294728 0.3948 0.301577 0.2453 0.4389 Uncertain 2_25362194_G->A 2 25362194 25362194 G A snp 438.77 0/1 99 45 29 16 0.36 intronic rs6718083 EFR3B AU NM_014971 exon16 c.96878+135G>A 0.342452 0.3036 Uncertain 2_25368005_G->A 2 25368005 25368005 G A snp 432.77 0/1 99 30 16 14 0.47 intronic rs10188516 EFR3B AU NM_014971 exon19 c.102739+85G>A 0.447085 0.5863 0.3489 0.5390 Uncertain 2_25368030_T->C 2 25368030 25368030 T C snp 108.77 0/1 99 10 5 5 0.5 intronic rs10180231 EFR3B AU NM_014971 exon19 c.102739+110T>C 0.459465 0.5992 Uncertain 2_25377176_T->C 2 25377176 25377176 T C snp 2657.77 1/1 99 99 0 99 1.0 exonic rs2164808 EFR3B AU synonymous SNV NM_014971 exon23 c.T2421C p.Y807Y 0.810304 0.9871 0.642138 0.6584 0.9889 Uncertain 2_25377329_C->T 2 25377329 25377329 C T snp 114.77 0/1 99 8 4 4 0.5 UTR3 rs2118404 EFR3B AU 0.413738 0.5903 Uncertain 2_25466888_G->T 2 25466888 25466888 G T snp 787.77 0/1 99 49 18 31 0.63 intronic rs2289093 DNMT3A AD NM_153759 exon8 c.9704+37G>T 0.60024 0.6171 0.679481 0.7275 0.6506 Uncertain 2_25469502_C->T 2 25469502 25469502 C T snp 1368.77 0/1 99 142 81 61 0.43 exonic rs2276598 DNMT3A AD synonymous SNV NM_175629 exon10 c.G1266A p.L422L 0.223842 0.3204 0.204938 0.1913 0.3148 ID=COSM4001621;OCCURENCE=1(thyroid) Uncertain 2_25469913_C->T 2 25469913 25469913 C T snp 1736.77 0/1 99 117 53 64 0.55 intronic rs2276599 DNMT3A AD NM_153759 exon15 c.12772-6C>T 0.614018 0.6131 0.686299 0.7167 0.6084 Uncertain 2_25472784_C->T 2 25472784 25472784 C T snp 176.77 0/1 99 16 9 7 0.44 intronic rs11681447 DNMT3A AD NM_153759 exon18 c.15446+191C>T 0.600839 0.6151 Uncertain 2_25536827_G->A 2 25536827 25536827 G A snp 1225.77 1/1 90 41 0 41 1.0 exonic rs41284843 DNMT3A AD synonymous SNV NM_175629 exon2 c.C27T p.P9P 0.0948482 0.1121 0.076558 0.1550 0.1414 ID=COSM3766569;OCCURENCE=1(liver) Uncertain 2_25602142_G->A 2 25602142 25602142 G A snp 2481.77 0/1 99 184 89 95 0.52 intronic rs2304426 DTNB AU 0.483227 0.1528 0.640735 0.5621 0.1776 Uncertain 2_25602450_A->G 2 25602450 25602450 A G snp 180.77 0/1 99 12 6 6 0.5 intronic rs2304428 DTNB AU NM_033148 exon2 c.5+258A>G 0.529952 0.244 Uncertain 2_25656880_C->G 2 25656880 25656880 C G snp 2059.77 1/1 99 63 0 63 1.0 intronic rs1395949 DTNB AU NM_033148 exon8 c.54677+16C>G 0.816294 0.7262 0.905695 0.8657 0.7471 Uncertain 2_25656889_-->T 2 25656889 25656889 - T indel 142.73 0/1 99 39 13 26 0.67 intronic rs11451153 DTNB AU NM_033148 exon8 c.54677+25insT 0.397564 0.5804 0.3501 0.5203 Uncertain 2_25705871_A->- 2 25705871 25705871 A - indel 1382.73 0/1 99 101 46 55 0.54 intronic DTNB AU NM_033148 exon10 c.103555+129delA Uncertain 2_25754235_T->C 2 25754235 25754235 T C snp 510.77 1/1 39 19 0 19 1.0 intronic rs539879 DTNB AU NM_033148 exon11 c.152154-106T>C 0.371605 0.4524 Uncertain 2_25875401_-->AA 2 25875401 25875401 - AA indel 1090.73 ./1 99 68 2 66 0.97 intronic rs137982132 DTNB AU NM_033148 exon18 c.273275-61insAA 0.217676 Uncertain 2_25875401_-->A 2 25875401 25875401 - A indel 1090.73 ./1 99 68 2 66 0.97 intronic rs33949722 DTNB AU NM_033148 exon18 c.273275-61insA 0.413538 0.5417 0.278339 Uncertain 2_26152793_G->A 2 26152793 26152793 G A snp 1865.77 1/1 99 63 1 62 0.98 intronic rs3731640 KIF3C AU NM_002254 exon3 c.977-30G>A 0.436701 0.881 0.203598 0.2586 0.8849 Uncertain 2_26203678_T->C 2 26203678 26203678 T C snp 5953.77 1/1 99 214 0 214 1.0 exonic rs1465878 KIF3C AU nonsynonymous SNV NM_002254 exon1 c.A1109G p.Q370R 1 1 0.999846 1.0000 1 1 T 0.000 P -0.935 T 0.0 T 0.0 T Pathogenic 2_26321526_T->C 2 26321526 26321526 T C snp 962.77 1/1 69 40 0 40 1.0 splicing rs11678157 RAB10 AU NM_016131 exon2 c.64053-4T>C 0.756589 0.8899 0.733354 0.7744 0.8708 Pathogenic 2_26350136_G->T 2 26350136 26350136 G T snp 1554.77 1/1 99 56 0 56 1.0 intronic rs2289022 RAB10 AU NM_016131 exon4 c.92625+34G>T 0.785743 0.8899 0.755152 0.7841 0.8691 Uncertain 2_26357748_G->T 2 26357748 26357748 G T snp 3837.77 1/1 99 129 0 129 1.0 intronic rs2243834 RAB10 AU NM_016131 exon6 c.100329-58G>T 0.783546 0.8899 0.745291 Uncertain 2_26358110_G->C 2 26358110 26358110 G C snp 90.28 1/1 9 3 0 3 1.0 UTR3 rs6705 RAB10 AU 0.758586 0.8899 Uncertain 2_26399214_G->A 2 26399214 26399214 G A snp 6753.77 1/1 99 248 1 247 1.0 exonic rs4665830 GAREML AU synonymous SNV NM_001168241 exon2 c.G114A p.G38G 0.811701 0.8651 0.735436 0.7345 0.8564 Uncertain 2_26405985_A->G 2 26405985 26405985 A G snp 1401.77 1/1 99 45 0 45 1.0 intronic rs10779956 GAREML AU NM_001191033 exon2 c.626+19A>G 0.857228 0.8641 0.828296 0.7896 0.8526 Uncertain 2_26408064_T->C 2 26408064 26408064 T C snp 409.77 1/1 30 16 0 16 1.0 exonic rs4665833 GAREML AU synonymous SNV NM_001191033 exon3 c.T1116C p.D372D 0.919928 0.9603 0.9632 0.9308 Uncertain 2_26415093_A->C 2 26415093 26415093 A C snp 395.28 0/1 9 17 2 15 0.88 intronic rs1865323 HADHA AR NM_000182 exon3 c.1060-85A>C 0.284545 0.7847 Uncertain 2_26415429_A->G 2 26415429 26415429 A G snp 476.77 1/1 36 18 0 18 1.0 intronic rs5001914 HADHA AR NM_000182 exon3 c.1175+136A>G 0.859425 0.8651 Uncertain 2_26416301_A->G 2 26416301 26416301 A G snp 1443.77 1/1 99 46 0 46 1.0 intronic rs7582341 HADHA AR NM_000182 exon4 c.2327-144A>G 0.852636 0.8542 Uncertain 2_26417533_C->A 2 26417533 26417533 C A snp 421.77 1/1 33 11 0 11 1.0 intronic rs1865324 HADHA AR NM_000182 exon5 c.3389+26C>A 0.851837 0.8542 0.833077 0.7957 0.8458 Uncertain 2_26420708_T->G 2 26420708 26420708 T G snp 2377.77 1/1 99 84 0 84 1.0 intronic rs13387855 HADHA AR NM_000182 exon7 c.6528+62T>G 0.852835 0.8542 Uncertain 2_26420809_G->C 2 26420809 26420809 G C snp 385.77 1/1 30 11 0 11 1.0 intronic rs2289019 HADHA AR NM_000182 exon7 c.6528+163G>C 0.852636 0.8542 Uncertain 2_26507076_A->T 2 26507076 26507076 A T snp 2914.77 1/1 99 112 0 112 1.0 splicing rs2303893 HADHB AR NM_000183 exon13 c.29950+4A>T 0.221446 0.7391 0.051668 0.1379 0.7601 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter|criteria_provided\x2c_single_submitter;CLNACC=RCV000078337.3|RCV000125343.1;CLNDSDB=MedGen|MedGen;CLNDSDBID=CN169374|CN221809 Pathogenic 2_26532491_G->T 2 26532491 26532491 G T snp 1720.77 1/1 99 70 0 70 1.0 intronic rs2007556 ADGRF3 AU NM_001145169 exon1 c.60+42G>T 0.709065 0.751 0.728282 0.7161 0.7821 Uncertain 2_26532735_G->A 2 26532735 26532735 G A snp 1868.77 1/1 99 56 0 56 1.0 intronic rs3856397 ADGRF3 AU NM_001145169 exon2 c.521-175G>A 0.6248 0.7034 Uncertain 2_26533023_C->T 2 26533023 26533023 C T snp 3979.77 1/1 99 148 0 148 1.0 intronic rs3851967 ADGRF3 AU NM_001145169 exon3 c.674-40C>T 0.626198 0.7034 0.642780 0.6736 0.7265 Uncertain 2_26534801_G->A 2 26534801 26534801 G A snp 1625.77 1/1 99 62 0 62 1.0 exonic rs7568529 ADGRF3 AU nonsynonymous SNV NM_153835 exon8 c.C1198T p.H400Y 0.671326 0.754 0.684915 0.6956 0.7858 0.28 T 0.002 P -0.968 T 0.012 T 0.071 T Pathogenic 2_26536555_T->C 2 26536555 26536555 T C snp 756.77 1/1 57 21 0 21 1.0 intronic rs7566473 ADGRF3 AU NM_001145169 exon7 c.4238-72T>C 0.727236 0.7034 Uncertain 2_26536694_C->T 2 26536694 26536694 C T snp 2497.77 1/1 99 96 0 96 1.0 exonic rs2052937 ADGRF3 AU nonsynonymous SNV NM_153835 exon5 c.G613A p.A205T 0.663339 0.6687 0.689835 0.6759 0.7216 1 T 0.000 P -0.966 T 0.066 T 0.007 T Pathogenic 2_26537499_A->C 2 26537499 26537499 A C snp 4188.77 1/1 99 148 0 148 1.0 intronic rs10187359 ADGRF3 AU NM_001145169 exon8 c.5102+8A>C 0.916933 0.9444 0.947640 0.9538 0.9516 Uncertain 2_26606154_T->C 2 26606154 26606154 T C snp 1223.77 1/1 87 47 0 47 1.0 intronic rs1109465 EPT1 AU NM_033505 exon7 c.37066-12T>C 0.184904 0.5625 0.056078 0.1601 0.6709 Uncertain 2_26607815_T->C 2 26607815 26607815 T C snp 1468.77 1/1 99 51 0 51 1.0 intronic rs4665853 EPT1 AU NM_033505 exon8 c.38726-11T>C 0.183706 0.5595 0.049120 0.1557 0.6122 Uncertain 2_26607992_T->C 2 26607992 26607992 T C snp 2164.77 1/1 99 78 0 78 1.0 exonic rs934280 EPT1 AU unknown 0.939097 0.8899 0.952498 0.9629 0.8929 Uncertain 2_26667615_T->C 2 26667615 26667615 T C snp 2164.77 1/1 99 77 0 77 1.0 exonic rs939820 DRC1 AR nonsynonymous SNV NM_145038 exon10 c.T1195C p.W399R 0.999201 1 0.998001 0.9993 1 0.71 T 0.000 P -0.962 T 0.0 T 0.0 T Pathogenic 2_26676322_A->G 2 26676322 26676322 A G snp 3738.77 1/1 99 143 0 143 1.0 exonic rs1402962 DRC1 AR synonymous SNV NM_145038 exon14 c.A1824G p.E608E 0.994409 1 0.995310 0.9983 1 Uncertain 2_26676395_G->T 2 26676395 26676395 G T snp 2563.77 1/1 99 85 0 85 1.0 exonic rs12623642 DRC1 AR nonsynonymous SNV NM_145038 exon14 c.G1897T p.V633F 0.19389 0.5873 0.055897 0.1318 0.5853 0 D 0.991 P -0.920 T 0.979 D 0.884 D Pathogenic 2_26678169_G->A 2 26678169 26678169 G A snp 265.8 1/1 21 9 1 8 0.89 intronic rs1879759 DRC1 AR NM_145038 exon16 c.53244+68G>A 0.191494 0.5863 Uncertain 2_26693967_C->T 2 26693967 26693967 C T snp 4079.77 1/1 99 156 0 156 1.0 intronic rs2272072 OTOF AR NM_194248 exon17 c.11096-21C>T 0.204273 0.5903 0.058050 0.1411 0.5971 Uncertain 2_26698682_G->T 2 26698682 26698682 G T snp 1523.77 1/1 99 52 0 52 1.0 intronic rs6712188 OTOF AR NM_194248 exon24 c.15889-99G>T 0.496006 0.8472 Uncertain 2_26699126_C->G 2 26699126 26699126 C G snp 2112.77 1/1 99 80 0 80 1.0 exonic rs4335905 OTOF AR synonymous SNV NM_194322 exon5 c.G666C p.L222L 0.707867 0.9831 0.529792 0.5634 0.9868 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=Deafness\x2c_autosomal_recessive_9|not_specified;CLNREVSTAT=no_assertion_criteria_provided|criteria_provided\x2c_single_submitter;CLNACC=RCV000021051.1|RCV000041509.2;CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet|MedGen;CLNDSDBID=NBK1251:C1832828:601071:ORPHA90636|CN169374 Uncertain 2_26699855_G->C 2 26699855 26699855 G C snp 2637.77 1/1 99 93 0 93 1.0 exonic rs2272069 OTOF AR synonymous SNV NM_194322 exon4 c.C510G p.V170V 0.501597 0.8542 0.343798 0.4740 0.8550 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=Deafness\x2c_autosomal_recessive_9|not_specified;CLNREVSTAT=no_assertion_criteria_provided|criteria_provided\x2c_multiple_submitters\x2c_no_conflicts;CLNACC=RCV000021050.1|RCV000041505.2;CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet|MedGen;CLNDSDBID=NBK1251:C1832828:601071:ORPHA90636|CN169374 Uncertain 2_26700700_G->A 2 26700700 26700700 G A snp 6225.77 1/1 99 228 0 228 1.0 exonic rs4665855 OTOF AR nonsynonymous SNV NM_194322 exon1 c.C62T p.P21L 0.602636 0.9841 0.411004 0.5512 0.9877 0.000 P -0.999 T 0.0 T 0.0 T CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000041487.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 2_26700820_GG->- 2 26700820 26700821 GG - indel 1643.73 1/1 99 35 0 35 1.0 UTR5 rs55806442 OTOF AR 0.724641 0.9841 Uncertain 2_26700908_C->G 2 26700908 26700908 C G snp 167.9 1/1 15 5 0 5 1.0 UTR5 rs6749978 OTOF AR 0.727636 0.9841 Uncertain 2_26702058_T->- 2 26702058 26702058 T - indel 344.74 1/1 27 9 0 9 1.0 intronic rs10714255 OTOF AR NM_194248 exon30 c.19239-73delT 0.540735 0.8373 Uncertain 2_26717641_A->G 2 26717641 26717641 A G snp 302.78 1/1 24 8 0 8 1.0 intronic rs939814 OTOF AR NM_194248 exon39 c.34917-168A>G 0.723043 0.9107 Uncertain 2_26724442_A->G 2 26724442 26724442 A G snp 1182.77 1/1 87 40 0 40 1.0 intronic rs7589019 OTOF AR NM_194248 exon40 c.41729-179A>G 0.322085 0.496 Uncertain 2_26724725_T->G 2 26724725 26724725 T G snp 1015.77 1/1 72 37 0 37 1.0 intronic rs6547079 OTOF AR NM_194248 exon40 c.41784+49T>G 0.70028 0.8859 0.629786 0.6150 0.8826 Uncertain 2_26733500_C->T 2 26733500 26733500 C T snp 2999.77 1/1 99 110 0 110 1.0 intronic rs939817 OTOF AR NM_194248 exon43 c.56393-5785C>T 0.48762 0.8244 Uncertain 2_26733677_G->A 2 26733677 26733677 G A snp 3140.77 1/1 99 112 0 112 1.0 intronic rs7582117 OTOF AR NM_194248 exon43 c.56393-5608G>A 0.278754 0.4921 Uncertain 2_26739423_T->C 2 26739423 26739423 T C snp 1782.77 0/1 99 145 66 79 0.54 exonic rs11687696 OTOF AR synonymous SNV NM_194248 exon5 c.A372G p.T124T 0.255391 0.5248 0.212671 0.2975 0.5389 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=Deafness\x2c_autosomal_recessive_9|not_specified;CLNREVSTAT=no_assertion_criteria_provided|criteria_provided\x2c_single_submitter;CLNACC=RCV000021059.1|RCV000041530.2;CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet|MedGen;CLNDSDBID=NBK1251:C1832828:601071:ORPHA90636|CN169374 Uncertain 2_26739526_A->G 2 26739526 26739526 A G snp 402.77 0/1 99 32 18 14 0.44 intronic rs55682147 OTOF AR NM_194248 exon43 c.56575+59A>G 0.134984 0.3105 Uncertain 2_26750557_T->C 2 26750557 26750557 T C snp 785.77 1/1 60 20 0 20 1.0 intronic rs10865425 OTOF AR NM_194248 exon45 c.67807-142T>C 0.942891 1 Uncertain 2_26750645_G->A 2 26750645 26750645 G A snp 1208.77 0/1 99 117 58 59 0.5 intronic rs1879760 OTOF AR NM_194248 exon45 c.67807-54G>A 0.640375 0.4464 0.718134 Uncertain 2_26750769_G->A 2 26750769 26750769 G A snp 1020.77 0/1 99 113 68 45 0.4 exonic rs1879761 OTOF AR nonsynonymous SNV NM_194248 exon3 c.C158T p.A53V 0.10024 0.3016 0.003614 0.0537 0.2745 0.22 T 0.989 P -1.084 T 0.185 T 0.08 T CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=Deafness\x2c_autosomal_recessive_9|not_specified;CLNREVSTAT=no_assertion_criteria_provided|criteria_provided\x2c_single_submitter;CLNACC=RCV000021036.1|RCV000041465.2;CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet|MedGen;CLNDSDBID=NBK1251:C1832828:601071:ORPHA90636|CN169374 ID=CM138592;DIS=Sensorineural hearing loss, nonsyndromic;TAG=DM?;PUB=23525850 DM? Pathogenic 2_26794845_T->- 2 26794845 26794845 T - indel 684.73 1/1 54 18 0 18 1.0 intronic rs398080112 C2orf70 AU NM_001105519 exon2 c.13289-3924delT 0.407348 0.6161 Uncertain 2_26798893_A->T 2 26798893 26798893 A T snp 7518.77 1/1 99 250 1 249 1.0 exonic rs13002673 C2orf70 AU nonsynonymous SNV NM_001105519 exon2 c.A198T p.Q66H 0.334465 0.623 0.240237 0.3373 0.6355 0.04 T 0.0 P -0.958 T 0.728 T 0.217 P Pathogenic 2_26799031_G->A 2 26799031 26799031 G A snp 3132.77 1/1 99 105 0 105 1.0 exonic rs2272464 C2orf70 AU synonymous SNV NM_001105519 exon2 c.G336A p.T112T 0.359824 0.623 0.261247 0.3436 0.6351 0 D 0.0 P -0.997 T Likely benign 2_26800523_C->T 2 26800523 26800523 C T snp 1029.77 0/1 99 87 48 39 0.45 intronic rs767683380 C2orf70 AU NM_001105519 exon3 c.15016+27C>T 2.532e-05 0 Uncertain 2_26802392_A->T 2 26802392 26802392 A T snp 2479.77 1/1 99 85 0 85 1.0 UTR3 rs2272467 C2orf70 AU 0.361821 0.627 Uncertain 2_26804008_A->G 2 26804008 26804008 A G snp 196.77 0/1 63 9 3 6 0.67 downstream rs744538 CIB4 AU 0.300719 0.1181 Uncertain 2_26804122_T->G 2 26804122 26804122 T G snp 2830.77 1/1 99 94 0 94 1.0 UTR3 rs744539 CIB4 AU 0.619609 0.7609 Uncertain 2_26804143_T->C 2 26804143 26804143 T C snp 3464.77 1/1 99 124 0 124 1.0 UTR3 rs744540 CIB4 AU 0.658546 0.7847 Uncertain 2_26804218_G->A 2 26804218 26804218 G A snp 5197.77 1/1 99 193 0 193 1.0 UTR3 rs935171 CIB4 AU 0.961462 1 0.960326 0.9895 1 Uncertain 2_26804247_T->C 2 26804247 26804247 T C snp 5062.77 1/1 99 193 0 193 1.0 exonic rs935172 CIB4 AU nonsynonymous SNV NM_001029881 exon7 c.A542G p.H181R 0.585064 0.6855 0.509073 0.5473 0.6702 1 T 0.051 P -0.910 T 0.001 T 0.0 T Pathogenic 2_26806803_T->C 2 26806803 26806803 T C snp 605.77 0/1 99 46 19 27 0.59 intronic rs2305000 CIB4 AU NM_001029881 exon3 c.2536+37T>C 0.170128 0.3849 0.076657 0.0640 0.3646 Uncertain 2_26818006_T->C 2 26818006 26818006 T C snp 1734.77 1/1 99 64 0 64 1.0 intronic rs1148962 CIB4 AU NM_001029881 exon4 c.13813-37T>C 0.878195 0.997 0.842227 0.8901 0.9991 Uncertain 2_26818021_C->T 2 26818021 26818021 C T snp 1917.77 1/1 99 72 0 72 1.0 intronic rs1148963 CIB4 AU NM_001029881 exon4 c.13813-22C>T 0.719249 0.9861 0.687144 0.8111 0.9905 Uncertain 2_26818090_C->T 2 26818090 26818090 C T snp 362.77 0/1 99 77 60 17 0.22 exonic rs140314502 CIB4 AU synonymous SNV NM_001029881 exon4 c.G282A p.E94E 0.00658946 0.0327 0.000077 0.0036 0.0461 Uncertain 2_26951449_G->A 2 26951449 26951449 G A snp 1004.77 1/1 72 34 0 34 1.0 UTR3 rs1663002 KCNK3 AD 0.96266 1 0.970274 0.9893 1 Uncertain 2_27157396_G->A 2 27157396 27157396 G A snp 71.77 0/1 99 8 5 3 0.38 intronic rs920437 DPYSL5 AU NM_020134 exon8 c.36078-49G>A 0.35004 0.3095 0.357297 0.4030 0.3366 Uncertain 2_27157400_A->G 2 27157400 27157400 A G snp 309.78 1/1 24 9 0 9 1.0 intronic rs920436 DPYSL5 AU NM_020134 exon8 c.36078-45A>G 0.967252 1 0.964709 0.9902 1 Uncertain 2_27157788_T->C 2 27157788 27157788 T C snp 71.77 0/1 99 7 4 3 0.43 intronic rs920435 DPYSL5 AU NM_020134 exon8 c.36235+186T>C 0.35623 0.3095 Uncertain 2_27163044_T->C 2 27163044 27163044 T C snp 852.77 0/1 99 67 35 32 0.48 splicing rs3739085 DPYSL5 AU NM_020134 exon9 c.41673+4T>C 0.608227 0.6944 0.597955 0.5873 0.6662 Pathogenic 2_27164806_G->A 2 27164806 27164806 G A snp 1035.77 0/1 99 80 38 42 0.53 intronic rs3820823 DPYSL5 AU NM_020134 exon10 c.43450-11G>A 0.608227 0.6944 0.596571 0.5861 0.6657 Uncertain 2_27167784_C->T 2 27167784 27167784 C T snp 254.77 0/1 99 21 12 9 0.43 intronic rs3739088 DPYSL5 AU NM_020134 exon12 c.46325+92C>T 0.342652 0.3016 Uncertain 2_27169638_C->- 2 27169638 27169638 C - indel 638.73 0/1 99 32 15 17 0.53 intronic rs3835821 DPYSL5 AU NM_020134 exon13 c.48410-139delC 0.581869 0.7123 Uncertain 2_27169842_C->A 2 27169842 27169842 C A snp 1526.77 0/1 99 169 98 71 0.42 exonic rs11126784 DPYSL5 AU synonymous SNV NM_001253723 exon13 c.C1674A p.G558G 0.57488 0.7083 0.552976 0.5829 0.6853 Uncertain 2_27246285_C->T 2 27246285 27246285 C T snp 1581.77 0/1 99 137 65 72 0.53 exonic rs10865456 MAPRE3 AU synonymous SNV NM_001303050 exon3 c.C207T p.H69H 0.880192 0.8413 0.900969 0.9101 0.8358 Uncertain 2_27249245_A->G 2 27249245 27249245 A G snp 2133.77 0/1 99 169 76 93 0.55 UTR3 rs3754733 MAPRE3 AU 0.651957 0.7778 0.632785 0.6190 0.7682 Uncertain 2_27258251_T->G 2 27258251 27258251 T G snp 473.77 0/1 99 40 21 19 0.47 intronic rs2304714 TMEM214 AU NM_001083590 exon3 c.2270+98T>G 0.0754792 0.1657 Uncertain 2_27258761_C->G 2 27258761 27258761 C G snp 568.77 0/1 99 38 15 23 0.61 intronic rs2304713 TMEM214 AU NM_001083590 exon4 c.2954-76C>G 0.0754792 0.1657 Uncertain 2_27259794_G->A 2 27259794 27259794 G A snp 195.77 0/1 99 25 18 7 0.28 intronic rs13021112 TMEM214 AU NM_001083590 exon6 c.3771+140G>A 0.53135 0.751 Uncertain 2_27261329_A->G 2 27261329 27261329 A G snp 1289.77 1/1 93 45 0 45 1.0 intronic rs11690454 TMEM214 AU NM_001083590 exon10 c.5468-22A>G 0.980631 1 0.982083 0.9946 1 Uncertain 2_27262764_GGA->- 2 27262764 27262766 GGA - indel 9353.73 1/1 99 193 0 193 1.0 intronic rs146244277 TMEM214 AU NM_001083590 exon13 c.6822+59_6822+61delGGA 0.964457 1 Uncertain 2_27263122_T->C 2 27263122 27263122 T C snp 3336.77 0/1 99 249 127 122 0.49 intronic rs1866654 TMEM214 AU NM_001083590 exon14 c.7183+56T>C 0.561701 0.7688 0.552562 Uncertain 2_27276202_G->A 2 27276202 27276202 G A snp 516.77 0/1 99 55 32 23 0.42 intronic rs3806520 AGBL5 AR NM_021831 exon3 c.443-67G>A 0.549121 0.7688 Uncertain 2_27279013_A->G 2 27279013 27279013 A G snp 1311.77 0/1 99 110 56 54 0.49 intronic rs2278593 AGBL5 AR NM_021831 exon7 c.3180+7A>G 0.077476 0.1657 0.056051 0.0797 0.1695 Uncertain 2_27279416_A->G 2 27279416 27279416 A G snp 3511.77 1/1 99 128 0 128 1.0 intronic rs2384570 AGBL5 AR NM_021831 exon8 c.3664-74A>G 0.966653 1 Uncertain 2_27280092_T->A 2 27280092 27280092 T A snp 2073.77 1/1 99 69 0 69 1.0 intronic rs6711384 AGBL5 AR NM_021831 exon9 c.4344-78T>A 0.640775 0.9345 Uncertain 2_27280127_G->A 2 27280127 27280127 G A snp 2867.77 1/1 99 107 0 107 1.0 intronic rs6721395 AGBL5 AR NM_021831 exon9 c.4344-43G>A 0.637979 0.9345 0.589113 0.6662 0.9306 Uncertain 2_27290525_A->G 2 27290525 27290525 A G snp 5990.77 1/1 99 216 1 215 1.0 intronic rs11681145 AGBL5 AR NM_021831 exon12 c.14688+11A>G 0.641773 0.9345 0.589728 0.6676 0.9307 Uncertain 2_27291661_G->A 2 27291661 27291661 G A snp 433.77 0/1 99 39 21 18 0.46 intronic rs7575465 AGBL5 AR NM_021831 exon13 c.15786+49G>A 0.463858 0.7728 0.410734 0.5233 0.7624 Uncertain 2_27292035_G->A 2 27292035 27292035 G A snp 1726.77 0/1 99 173 97 76 0.44 intronic rs117238208 AGBL5 AR NM_021831 exon14 c.16614-405G>A 0.00219649 0.0099 ID=COSN166041;OCCURENCE=1(NS) Uncertain 2_27292651_T->C 2 27292651 27292651 T C snp 221.77 0/1 99 15 7 8 0.53 intronic rs10865461 AGBL5 AR NM_021831 exon14 c.16748+77T>C 0.557907 0.7738 Uncertain 2_27293150_G->T 2 27293150 27293150 G T snp 1703.77 0/1 99 140 66 74 0.53 UTR3 rs1053609 AGBL5 AR 0.551917 0.7688 0.533567 0.5860 0.7626 Uncertain 2_27294336_G->A 2 27294336 27294336 G A snp 1418.77 0/1 99 116 59 57 0.49 splicing rs58863372 OST4 AU NM_001134693 exon2 c.115+5G>A 0.00579073 0.0288 0.0015 0.0455 Pathogenic 2_27302165_T->C 2 27302165 27302165 T C snp 871.77 0/1 99 70 36 34 0.49 intronic rs2289360 EMILIN1 AU NM_007046 exon1 c.170+62T>C 0.586861 0.7808 Uncertain 2_27303755_A->G 2 27303755 27303755 A G snp 3159.77 1/1 99 103 0 103 1.0 exonic rs2736976 EMILIN1 AU nonsynonymous SNV NM_007046 exon3 c.A446G p.Q149R 0.96885 1 0.976212 0.9928 0.9999 0.9 T 0.0 P -0.986 T 0.0 T 0.0 T Pathogenic 2_27307769_G->C 2 27307769 27307769 G C snp 1756.77 0/1 99 158 78 80 0.51 intronic rs2304682 EMILIN1 AU NM_007046 exon6 c.5925-89G>C 0.684105 0.7728 0.679588 Uncertain 2_27315252_G->A 2 27315252 27315252 G A snp 2314.77 0/1 99 211 105 106 0.5 exonic rs2304681 KHK AR nonsynonymous SNV NM_000221 exon2 c.G145A p.V49I 0.33147 0.2312 0.355990 0.3776 0.2398 0.47 T 0.994 P -0.937 T 0.523 P 0.145 P Pathogenic 2_27319826_A->G 2 27319826 27319826 A G snp 479.77 1/1 36 16 0 16 1.0 intronic rs9677784 KHK AR NM_006488 exon4 c.9542+157A>G 0.974042 1 Uncertain 2_27323385_C->T 2 27323385 27323385 C T snp 1546.77 0/1 99 140 64 76 0.54 exonic rs1131375 CGREF1 AU synonymous SNV NM_001301324 exon5 c.G312A p.L104L 0.291733 0.2351 0.302891 0.3287 0.2937 0.5 T 0.0 P -0.983 T 0.963 D 0.432 D Likely benign 2_27323468_A->C 2 27323468 27323468 A C snp 3004.77 1/1 99 114 0 114 1.0 UTR3 rs4665371 CGREF1 AU 0.986222 1 Uncertain 2_27324036_G->A 2 27324036 27324036 G A snp 370.77 0/1 99 21 8 13 0.62 UTR3 rs1057394 CGREF1 AU 0.617612 0.7639 Uncertain 2_27324340_G->A 2 27324340 27324340 G A snp 598.77 0/1 99 31 10 21 0.68 exonic rs11893427 CGREF1 AU synonymous SNV NM_001166239 exon6 c.C759T p.P253P 8.45e-05 0 Uncertain 2_27324354_C->T 2 27324354 27324354 C T snp 303.77 0/1 99 27 14 13 0.48 exonic rs1057391 CGREF1 AU nonsynonymous SNV NM_001166239 exon6 c.G745A p.E249K 0.02 T 1 N -0.899 T 0.012 T 0.003 T Pathogenic 2_27324371_C->T 2 27324371 27324371 C T snp 60.77 0/1 89 29 23 6 0.21 exonic rs1057389 CGREF1 AU nonsynonymous SNV NM_001166239 exon6 c.G728A p.G243E 0.34 T 1 N -0.902 T 0.36 T 0.056 T Pathogenic 2_27324724_G->C 2 27324724 27324724 G C snp 3100.77 0/1 99 250 121 129 0.52 exonic rs2384571 CGREF1 AU synonymous SNV NM_001166239 exon6 c.C375G p.T125T 0.574681 0.7669 0.550900 0.5921 0.7597 Uncertain 2_27324751_G->T 2 27324751 27324751 G T snp 3146.77 0/1 99 250 125 125 0.5 exonic rs2384572 CGREF1 AU synonymous SNV NM_001166239 exon6 c.C348A p.I116I 0.54353 0.7619 0.513150 0.5821 0.7553 Uncertain 2_27351948_T->G 2 27351948 27351948 T G snp 5882.77 1/1 99 216 0 216 1.0 exonic rs6715286 ABHD1 AU nonsynonymous SNV NM_032604 exon3 c.T411G p.D137E 0.983427 1 0.983469 0.9952 1 0.39 T 0.0 P -1.039 T 0.0 T 0.001 T Pathogenic 2_27353507_G->C 2 27353507 27353507 G C snp 5362.77 1/1 99 184 0 184 1.0 exonic rs2304678 ABHD1 AU nonsynonymous SNV NM_032604 exon9 c.G1113C p.W371C 0.20647 0.1736 0.198524 0.1737 0.1733 0.24 T 0.521 P -0.902 T 0.0 T 0.0 T Pathogenic 2_27354173_C->A 2 27354173 27354173 C A snp 952.77 1/1 72 25 0 25 1.0 UTR3 rs11126874 PREB AU 0.979433 1 Uncertain 2_27354971_C->T 2 27354971 27354971 C T snp 4040.77 1/1 99 143 0 143 1.0 intronic rs11695930 PREB AU NM_013388 exon3 c.669+21C>T 0.172524 0.1736 0.159234 0.1618 0.1725 Uncertain 2_27355454_A->C 2 27355454 27355454 A C snp 786.77 1/1 57 28 0 28 1.0 intronic rs4665948 PREB AU NM_013388 exon5 c.1189-16A>C 0.984225 1 0.983930 0.9954 1 Uncertain 2_27355991_G->T 2 27355991 27355991 G T snp 2399.77 1/1 99 84 0 84 1.0 exonic rs2289358 PREB AU synonymous SNV NM_013388 exon3 c.C540A p.V180V 0.192692 0.1736 0.180225 0.1673 0.1719 Uncertain 2_27356269_C->T 2 27356269 27356269 C T snp 828.77 0/1 99 72 38 34 0.47 intronic rs147071446 PREB AU NM_013388 exon7 c.1924+64C>T 0.00658946 0.0317 Uncertain 2_27356278_T->C 2 27356278 27356278 T C snp 2244.77 1/1 99 79 0 79 1.0 intronic rs2289359 PREB AU NM_013388 exon7 c.1924+73T>C 0.196286 0.1746 Uncertain 2_27423646_T->C 2 27423646 27423646 T C snp 56.74 1/1 6 2 0 2 1.0 intronic rs1275519 SLC5A6 AU NM_021095 exon1 c.144+199T>C 0.797923 0.998 Uncertain 2_27424496_G->A 2 27424496 27424496 G A snp 1536.77 1/1 99 54 0 54 1.0 intronic rs1006898 SLC5A6 AU NM_021095 exon4 c.1230-37G>A 0.797724 0.998 0.777257 0.8856 0.9980 Uncertain 2_27424636_G->A 2 27424636 27424636 G A snp 5322.77 1/1 99 192 0 192 1.0 exonic rs1395 SLC5A6 AU nonsynonymous SNV NM_021095 exon14 c.C1442T p.S481F 0.532548 0.8492 0.541366 0.6193 0.8526 0.05 T 0.928 P -0.919 T 0.012 T 0.011 T Pathogenic 2_27426514_G->C 2 27426514 27426514 G C snp 3915.77 1/1 99 141 0 141 1.0 intronic rs1275521 SLC5A6 AU NM_021095 exon8 c.3343-132G>C 0.900359 1 Uncertain 2_27426878_C->T 2 27426878 27426878 C T snp 84.28 1/1 9 3 0 3 1.0 intronic rs1275522 SLC5A6 AU NM_021095 exon8 c.3432+143C>T 0.546925 0.8502 Uncertain 2_27428147_A->G 2 27428147 27428147 A G snp 1677.77 1/1 99 54 0 54 1.0 intronic rs1298361 SLC5A6 AU NM_021095 exon11 c.4914-70A>G 0.995008 1 Uncertain 2_27428295_A->G 2 27428295 27428295 A G snp 6660.77 1/1 99 240 0 240 1.0 exonic rs1275524 SLC5A6 AU synonymous SNV NM_021095 exon7 c.T657C p.I219I 0.998602 1 0.998770 0.9997 1 Uncertain 2_27428702_A->C 2 27428702 27428702 A C snp 520.77 1/1 39 14 0 14 1.0 intronic rs1275525 SLC5A6 AU NM_021095 exon12 c.5590-191A>C 0.811701 0.999 Uncertain 2_27428815_C->G 2 27428815 27428815 C G snp 2937.77 1/1 99 105 0 105 1.0 intronic rs1275526 SLC5A6 AU NM_021095 exon12 c.5590-78C>G 0.816494 0.999 Uncertain 2_27428877_C->G 2 27428877 27428877 C G snp 3529.77 1/1 99 131 0 131 1.0 intronic rs1275527 SLC5A6 AU NM_021095 exon12 c.5590-16C>G 0.811701 0.999 0.785791 0.9025 0.9986 Uncertain 2_27435250_A->G 2 27435250 27435250 A G snp 4218.77 1/1 99 158 0 158 1.0 exonic rs1275533 ATRAID AU nonsynonymous SNV NM_001170795 exon1 c.A14G p.D5G 0.904353 1 0.902473 0.9517 0.9974 0.9 T 0.000 P -0.984 T 0.0 T 0.0 T Pathogenic 2_27435374_G->A 2 27435374 27435374 G A snp 3046.77 1/1 99 106 0 106 1.0 UTR5 rs11608 ATRAID AU 0.543331 0.8502 0.575004 0.6539 0.8459 Uncertain 2_27440785_C->T 2 27440785 27440785 C T snp 6332.77 1/1 99 234 0 234 1.0 exonic rs1275536 CAD AR synonymous SNV NM_004341 exon2 c.C123T p.T41T 0.995807 1 0.995771 0.9986 1 Uncertain 2_27466368_C->T 2 27466368 27466368 C T snp 136.77 0/1 99 10 5 5 0.5 exonic rs2304684 CAD AR synonymous SNV NM_004341 exon44 c.C6660T p.T2220T 0.0385383 0.1151 0.017223 0.0443 0.1438 1 D -0.895 T Likely benign 2_27535311_-->G 2 27535311 27535311 - G indel 8841.73 1/1 99 221 0 221 1.0 intronic rs397775769 MPV17 AR NM_002437 exon4 c.2581-49insG 1 1 0.999840 1.0000 0.9999 Uncertain 2_27545181_G->T 2 27545181 27545181 G T snp 486.77 0/1 99 58 39 19 0.33 intronic rs146502189 MPV17 AR NM_002437 exon7 c.12535-133G>T 0.00878594 0.0397 Uncertain 2_27598097_T->C 2 27598097 27598097 T C snp 689.77 0/1 99 49 23 26 0.53 intronic rs4665972 SNX17 AU NM_001267059 exon9 c.4410+77T>C 0.71845 0.5109 Uncertain 2_27606098_A->G 2 27606098 27606098 A G snp 902.77 1/1 66 27 0 27 1.0 intronic rs2384629 PPM1G AU NM_177983 exon4 c.1767-134A>G 0.992212 1 Uncertain 2_27664043_A->G 2 27664043 27664043 A G snp 799.77 0/1 99 44 16 28 0.64 exonic rs34260196 NRBP1 AU nonsynonymous SNV NM_013392 exon15 c.A1379G p.H460R 0.00139776 0.0069 0.0002 0.0023 0.36 T 1.000 D -1.091 T 0.607 T 0.124 P Pathogenic 2_27730940_T->C 2 27730940 27730940 T C snp 1313.77 0/1 99 101 45 56 0.55 exonic rs1260326 GCKR AU nonsynonymous SNV NM_001486 exon15 c.T1337C p.L446P 0.706669 0.5188 0.675919 0.6429 0.5061 1 T 0.733 P -1.049 T 0.0 T 0.0 T CLINSIG=other;CLNDBN=Fasting_plasma_glucose_level_quantitative_trait_locus_5;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000009294.1;CLNDSDB=MedGen:OMIM;CLNDSDBID=C3150714:613463 ID=CM083701;DIS=Hyperglycaemia, reduced risk, association with;TAG=DFP;PUB=18556336 DFP Pathogenic 2_27731212_T->C 2 27731212 27731212 T C snp 310.77 0/1 99 25 13 12 0.48 intronic rs3817588 GCKR AU NM_001486 exon16 c.11347+94T>C 0.180112 0.3433 Uncertain 2_27741555_T->C 2 27741555 27741555 T C snp 467.77 0/1 99 42 23 19 0.45 intronic rs8179235 GCKR AU NM_001486 exon17 c.21883-99T>C 0.0219649 0.1002 Uncertain 2_27789760_A->G 2 27789760 27789760 A G snp 3056.77 0/1 99 250 133 117 0.47 intergenic GCKR AU 0 D -0.951 T Uncertain 2_27789861_T->A 2 27789861 27789861 T A snp 3126.77 0/1 99 250 123 127 0.51 intergenic rs965813 GCKR AU 0.252196 0.3383 0.2689 0.3419 0 D -0.965 T Uncertain 2_27801403_C->G 2 27801403 27801403 C G snp 7514.77 1/1 99 249 1 248 1.0 exonic rs1919125 C2orf16 AU nonsynonymous SNV NM_032266 exon1 c.C1964G p.T655S 0.659545 0.8462 0.558231 0.5605 0.8461 0.69 T 0.0 P -1.056 T 0.001 T 0.001 T Pathogenic 2_27801418_C->A 2 27801418 27801418 C A snp 7542.77 1/1 99 249 1 248 1.0 exonic rs1919126 C2orf16 AU nonsynonymous SNV NM_032266 exon1 c.C1979A p.A660E 0.659545 0.8462 0.558662 0.5605 0.8461 0.24 T 0.000 P -1.065 T 0.0 T 0.001 T Pathogenic 2_27801493_T->C 2 27801493 27801493 T C snp 3269.77 0/1 99 250 118 132 0.53 exonic rs1919127 C2orf16 AU nonsynonymous SNV NM_032266 exon1 c.T2054C p.V685A 0.307308 0.5079 0.242893 0.2970 0.4866 0.28 T 0.0 P -1.007 T 0.408 T 0.091 T Pathogenic 2_27801759_A->G 2 27801759 27801759 A G snp 2718.77 0/1 99 250 141 109 0.44 exonic rs1919128 C2orf16 AU nonsynonymous SNV NM_032266 exon1 c.A2320G p.I774V 0.268371 0.5079 0.209541 0.2868 0.4867 0.06 T 0.0 P -0.948 T 0.967 D 0.775 D Pathogenic 2_27802805_A->G 2 27802805 27802805 A G snp 1601.77 0/1 99 144 82 62 0.43 exonic rs3811644 C2orf16 AU synonymous SNV NM_032266 exon1 c.A3366G p.L1122L 0.204673 0.3383 0.161820 0.2169 0.3659 Uncertain 2_27804432_T->C 2 27804432 27804432 T C snp 6624.77 1/1 99 227 0 227 1.0 exonic rs28381983 C2orf16 AU nonsynonymous SNV NM_032266 exon1 c.T4993C p.S1665P 0.694489 0.8452 0.588201 0.5727 0.8504 1 T 0.0 P -0.965 T 0.0 T 0.0 T Pathogenic 2_27824168_G->C 2 27824168 27824168 G C snp 2869.77 0/1 99 250 126 124 0.5 intronic rs56725354 ZNF512 AU NM_001271287 exon6 c.3147-54G>C 0.240815 0.3383 0.197766 Uncertain 2_27830990_G->T 2 27830990 27830990 G T snp 1318.77 1/1 96 42 0 42 1.0 intronic rs6547734 ZNF512 AU NM_001271287 exon9 c.9831+84G>T 0.659744 0.8452 Uncertain 2_27838058_C->A 2 27838058 27838058 C A snp 3503.77 1/1 99 124 0 124 1.0 exonic rs11127071 ZNF512 AU synonymous SNV NM_001271286 exon10 c.C1068A p.L356L 0.652756 0.8452 0.554898 0.5596 0.8456 Uncertain 2_27839107_T->C 2 27839107 27839107 T C snp 3982.77 1/1 99 159 0 159 1.0 intronic rs6737921 ZNF512 AU NM_001271287 exon11 c.18053-21T>C 0.652756 0.8452 0.555128 0.5599 0.8468 Uncertain 2_27840539_A->G 2 27840539 27840539 A G snp 724.77 0/1 99 72 46 26 0.36 intronic rs4666001 ZNF512 AU NM_001271287 exon12 c.19363+101A>G 0.0838658 0.1905 Uncertain 2_27851120_T->C 2 27851120 27851120 T C snp 135.03 1/1 12 4 0 4 1.0 intronic rs12615690 CCDC121 AU NM_001142683 exon2 c.1433-142T>C 0.642772 0.8978 Uncertain 2_27852117_-->GGTCTT 2 27852117 27852117 - GGTCTT indel 6987.73 1/1 99 84 0 84 1.0 intronic rs60089768 GPN1 AU NM_007266 exon1 c.153+81insGGTCTT 0.646565 0.8958 Uncertain 2_27852118_A->C 2 27852118 27852118 A C snp 2150.77 1/1 99 64 0 64 1.0 intronic rs58737572 GPN1 AU NM_007266 exon1 c.153+82A>C 0.648163 0.8958 Uncertain 2_27852150_-->G 2 27852150 27852150 - G indel 2372.73 1/1 99 75 0 75 1.0 intronic rs146892484 GPN1 AU NM_001145047 exon2 c.667-91insG 0.26877 0.5794 Uncertain 2_27852637_A->G 2 27852637 27852637 A G snp 598.77 1/1 45 18 0 18 1.0 intronic rs6547738 GPN1 AU NM_001145047 exon3 c.1151-88A>G 0.644169 0.9028 Uncertain 2_27855397_A->T 2 27855397 27855397 A T snp 2188.77 1/1 99 74 0 74 1.0 intronic rs10173720 GPN1 AU NM_001145048 exon5 c.1574-102A>T 0.321885 0.5813 Uncertain 2_27857992_T->A 2 27857992 27857992 T A snp 5796.77 1/1 99 197 0 197 1.0 intronic rs4666009 GPN1 AU NM_001145048 exon7 c.4081-14T>A 0.676917 0.9028 0.563663 0.5692 0.8878 Uncertain 2_27884878_C->T 2 27884878 27884878 C T snp 525.77 1/1 39 16 0 16 1.0 intronic rs1569152 SUPT7L AU NM_001282731 exon5 c.8694-167C>T 0.991414 1 Uncertain 2_27930837_C->T 2 27930837 27930837 C T snp 4115.77 1/1 99 137 0 137 1.0 intergenic rs4665385 SLC4A1AP AU 0.265575 0.5893 0.2144 0.5939 0 D -0.918 T 0.883 T 0.31 P Uncertain 2_28069713_T->G 2 28069713 28069713 T G snp 272.8 1/1 21 12 0 12 1.0 intronic rs11901133 RBKS AU NM_022128 exon5 c.65427-195T>G 0.458267 0.6319 Uncertain 2_28084530_-->GGG 2 28084530 28084530 - GGG indel 224.8 1/1 18 15 0 15 1.0 intronic rs386389786 RBKS AU NM_022128 exon7 c.76957+3092insGGG Uncertain 2_28235955_T->C 2 28235955 28235955 T C snp 139.03 1/1 12 4 0 4 1.0 intronic rs10495761 BRE AU NM_199193 exon6 c.130669-12137T>C 0.302716 0.6161 Uncertain 2_28236120_C->T 2 28236120 28236120 C T snp 5001.77 1/1 99 187 1 186 0.99 intronic rs11127132 BRE AU NM_199193 exon6 c.130669-11972C>T 0.251398 0.6161 Uncertain 2_28464435_T->C 2 28464435 28464435 T C snp 82.28 1/1 9 4 0 4 1.0 intronic rs6737817 BRE AU NM_199193 exon10 c.346837+175T>C 0.998802 1 Uncertain 2_28521057_C->T 2 28521057 28521057 C T snp 180.9 1/1 15 5 0 5 1.0 intronic rs4665408 BRE AU NM_199193 exon12 c.403781-147C>T 0.536342 0.6359 Uncertain 2_28634776_A->G 2 28634776 28634776 A G snp 297.77 0/1 99 42 31 11 0.26 intronic rs12621283 FOSL2 AU NM_005253 exon4 c.18209-20A>G 0.0129792 0.0476 0.000077 0.0082 0.0507 0.43 T 1 N -1.022 T Uncertain 2_28634790_G->A 2 28634790 28634790 G A snp 338.77 0/1 99 50 34 16 0.32 intronic rs12624279 FOSL2 AU NM_005253 exon4 c.18209-6G>A 0.294129 0.1835 0.360218 0.3675 0.1837 Uncertain 2_28718897_A->G 2 28718897 28718897 A G snp 2047.77 1/1 99 75 0 75 1.0 upstream rs4665423 PLB1 AU 0.964257 0.999 Uncertain 2_28748857_T->C 2 28748857 28748857 T C snp 2689.77 1/1 99 103 0 103 1.0 intronic rs4666085 PLB1 AU NM_153021 exon6 c.29831+45T>C 0.967652 0.997 0.978625 0.9552 0.9943 Uncertain 2_28752498_T->C 2 28752498 28752498 T C snp 4141.77 1/1 99 143 0 143 1.0 intronic rs6728486 PLB1 AU NM_153021 exon8 c.33613-96T>C 0.967252 0.997 Uncertain 2_28752555_T->C 2 28752555 28752555 T C snp 6999.77 1/1 99 250 0 250 1.0 intronic rs4473343 PLB1 AU NM_153021 exon8 c.33613-39T>C 0.905751 0.996 0.904352 0.9176 0.9941 Uncertain 2_28752727_C->G 2 28752727 28752727 C G snp 2340.77 1/1 99 69 0 69 1.0 intronic rs6710800 PLB1 AU NM_153021 exon8 c.33665+81C>G 0.967053 0.997 Uncertain 2_28752741_A->G 2 28752741 28752741 A G snp 1977.77 1/1 99 55 0 55 1.0 intronic rs6725577 PLB1 AU NM_153021 exon8 c.33665+95A>G 0.907548 0.996 Uncertain 2_28761257_A->G 2 28761257 28761257 A G snp 1163.77 1/1 84 41 0 41 1.0 intronic rs7589169 PLB1 AU NM_153021 exon10 c.42267+9A>G 0.852236 0.9931 0.858406 0.9027 0.9930 Uncertain 2_28761282_A->G 2 28761282 28761282 A G snp 767.77 1/1 57 30 0 30 1.0 intronic rs7589254 PLB1 AU NM_153021 exon10 c.42267+34A>G 0.853235 0.9931 0.857572 0.9014 0.9926 Uncertain 2_28764452_C->T 2 28764452 28764452 C T snp 744.77 1/1 57 19 0 19 1.0 intronic rs13406540 PLB1 AU NM_153021 exon13 c.45592-121C>T 0.545727 0.7758 Uncertain 2_28764458_C->A 2 28764458 28764458 C A snp 837.77 1/1 63 22 0 22 1.0 intronic rs11127163 PLB1 AU NM_153021 exon13 c.45592-115C>A 0.890176 0.9931 Uncertain 2_28765918_G->T 2 28765918 28765918 G T snp 456.77 0/1 99 29 13 16 0.55 intronic rs117490216 PLB1 AU NM_153021 exon14 c.47097-160G>T 0.0778754 0.3413 Uncertain 2_28771453_TA->- 2 28771453 28771454 TA - indel 1785.73 1/1 99 44 0 44 1.0 intronic rs56019402 PLB1 AU NM_153021 exon15 c.52745-273_52745-272delTA 0.881789 0.9921 0.8566 0.9655 Uncertain 2_28771624_T->G 2 28771624 28771624 T G snp 2684.77 1/1 99 91 0 91 1.0 intronic rs11680168 PLB1 AU NM_153021 exon15 c.52745-102T>G 0.878195 0.9931 Uncertain 2_28773053_C->T 2 28773053 28773053 C T snp 33.77 0/1 62 4 2 2 0.5 intronic PLB1 AU NM_153021 exon16 c.53970+102C>T Uncertain 2_28785754_G->C 2 28785754 28785754 G C snp 218.84 1/1 18 6 0 6 1.0 intronic rs7560628 PLB1 AU NM_153021 exon18 c.66926-153G>C 0.901757 0.994 Uncertain 2_28785768_A->G 2 28785768 28785768 A G snp 267.8 1/1 21 8 0 8 1.0 intronic rs12999555 PLB1 AU NM_153021 exon18 c.66926-139A>G 0.288139 0.5298 Uncertain 2_28789643_T->C 2 28789643 28789643 T C snp 3134.77 0/1 99 249 129 120 0.48 intronic rs10186460 PLB1 AU NM_153021 exon20 c.70681-19T>C 0.363618 0.2034 0.432646 0.4392 0.2074 Uncertain 2_28789884_G->A 2 28789884 28789884 G A snp 40.77 0/1 69 5 3 2 0.4 intronic rs12714237 PLB1 AU NM_153021 exon20 c.70725+178G>A 0.299321 0.1657 Uncertain 2_28800894_C->T 2 28800894 28800894 C T snp 423.77 0/1 99 39 22 17 0.44 intronic rs877832 PLB1 AU NM_153021 exon22 c.81992-79C>T 0.269569 0.2798 Uncertain 2_28802355_G->C 2 28802355 28802355 G C snp 626.77 0/1 99 41 21 20 0.49 intronic rs12466173 PLB1 AU NM_153021 exon23 c.83512-138G>C 0.427716 0.379 Uncertain 2_28804836_A->- 2 28804836 28804836 A - indel 255.73 0/1 99 25 9 16 0.64 intronic rs397868932 PLB1 AU NM_153021 exon24 c.85953-98delA Uncertain 2_28805410_C->A 2 28805410 28805410 C A snp 702.77 0/1 99 70 38 32 0.46 intronic rs4666102 PLB1 AU NM_153021 exon25 c.86391+38C>A 0.38099 0.377 0.335333 0.3804 0.4291 Uncertain 2_28808539_G->A 2 28808539 28808539 G A snp 108.77 0/1 99 10 6 4 0.4 intronic rs13393932 PLB1 AU NM_153021 exon26 c.89646-88G>A 0.429313 0.379 Uncertain 2_28812285_T->C 2 28812285 28812285 T C snp 1373.77 0/1 99 120 67 53 0.44 intronic rs12468715 PLB1 AU NM_153021 exon27 c.93335-31T>C 0.422524 0.381 0.374443 0.3618 0.3809 Uncertain 2_28812982_C->T 2 28812982 28812982 C T snp 910.77 0/1 99 74 34 40 0.54 intronic rs4666105 PLB1 AU NM_153021 exon29 c.93962+39C>T 0.430312 0.38 0.380670 0.3631 0.3800 Uncertain 2_28814033_A->G 2 28814033 28814033 A G snp 3026.77 0/1 99 249 117 132 0.53 exonic rs11681826 PLB1 AU nonsynonymous SNV NM_153021 exon30 c.A2122G p.M708V 0.302716 0.3006 0.249885 0.2450 0.3050 0.67 T 0.0 P -0.935 T 0.0 T 0.0 T Pathogenic 2_28814185_G->T 2 28814185 28814185 G T snp 330.77 0/1 99 16 6 10 0.63 intronic rs11127175 PLB1 AU NM_153021 exon30 c.95057+147G>T 0.296126 0.2927 Uncertain 2_28814548_A->T 2 28814548 28814548 A T snp 1663.77 0/1 99 147 68 79 0.54 intronic rs12464271 PLB1 AU NM_153021 exon31 c.95585-18A>T 0.289936 0.2907 0.239505 0.2406 0.2961 Uncertain 2_28814683_T->C 2 28814683 28814683 T C snp 794.77 0/1 99 67 38 29 0.43 intronic rs11127176 PLB1 AU NM_153021 exon31 c.95646+56T>C 0.342452 0.378 0.257994 Uncertain 2_28816948_C->T 2 28816948 28816948 C T snp 2830.77 0/1 99 248 127 121 0.49 intronic rs4665429 PLB1 AU NM_153021 exon33 c.97640+327C>T 0.488019 0.1458 0.634810 0.6363 0.1431 Uncertain 2_28821662_C->T 2 28821662 28821662 C T snp 1670.77 1/1 99 59 0 59 1.0 intronic rs7557359 PLB1 AU NM_153021 exon35 c.102646+35C>T 0.634385 0.877 0.555052 0.5796 0.9025 Uncertain 2_28821739_T->G 2 28821739 28821739 T G snp 83.77 0/1 67 5 2 3 0.6 intronic rs7573845 PLB1 AU NM_153021 exon35 c.102646+112T>G 0.275759 0.4028 Uncertain 2_28824303_C->G 2 28824303 28824303 C G snp 179.77 0/1 99 15 8 7 0.47 intronic rs1106882 PLB1 AU NM_153021 exon37 c.105218+104C>G 0.269369 0.3978 Uncertain 2_28824793_C->G 2 28824793 28824793 C G snp 3472.77 1/1 99 127 0 127 1.0 exonic rs7601771 PLB1 AU nonsynonymous SNV NM_153021 exon38 c.C2635G p.H879D 0.64976 0.878 0.570352 0.5838 0.9038 0.63 T 0.000 P -0.979 T 0.0 T 0.0 T Pathogenic 2_28824940_G->A 2 28824940 28824940 G A snp 169.77 0/1 99 20 14 6 0.3 intronic rs67381370 PLB1 AU NM_153021 exon38 c.105850+109G>A 0.275958 0.3442 Uncertain 2_28840344_G->T 2 28840344 28840344 G T snp 254.8 1/1 21 7 0 7 1.0 intronic rs11891377 PLB1 AU NM_153021 exon45 c.121612-249G>T 0.652356 0.876 Uncertain 2_28840691_C->T 2 28840691 28840691 C T snp 1356.77 0/1 99 118 63 55 0.47 intronic rs1534478 PLB1 AU NM_153021 exon45 c.121673+37C>T 0.259385 0.3304 0.249193 0.2824 0.3539 Uncertain 2_28841021_G->A 2 28841021 28841021 G A snp 700.77 1/1 54 20 0 20 1.0 intronic rs1881256 PLB1 AU NM_153021 exon46 c.122226-186G>A 0.647963 0.874 Uncertain 2_28841049_G->A 2 28841049 28841049 G A snp 1008.77 1/1 75 32 0 32 1.0 intronic rs1881255 PLB1 AU NM_153021 exon46 c.122226-158G>A 0.608227 0.874 Uncertain 2_28847806_C->G 2 28847806 28847806 C G snp 4045.77 1/1 99 147 0 147 1.0 intronic rs11127181 PLB1 AU NM_153021 exon50 c.128942-117C>G 0.603435 0.8978 Uncertain 2_28853352_C->T 2 28853352 28853352 C T snp 171.77 0/1 99 21 14 7 0.33 intronic rs6713038 PLB1 AU NM_153021 exon54 c.134471-100C>T 0.302915 0.3343 Uncertain 2_28853377_T->C 2 28853377 28853377 T C snp 396.77 0/1 99 34 21 13 0.38 intronic rs6731155 PLB1 AU NM_153021 exon54 c.134471-75T>C 0.303115 0.3343 Uncertain 2_28854795_C->T 2 28854795 28854795 C T snp 176.9 1/1 15 5 0 5 1.0 intronic rs2219762 PLB1 AU NM_153021 exon55 c.135921-107C>T 0.252995 0.3204 Uncertain 2_28854816_G->A 2 28854816 28854816 G A snp 186.77 0/1 99 12 5 7 0.58 intronic rs2272388 PLB1 AU NM_153021 exon55 c.135921-86G>A 0.23123 0.3204 Uncertain 2_28854958_C->T 2 28854958 28854958 C T snp 746.77 0/1 99 79 43 36 0.46 exonic rs2199619 PLB1 AU nonsynonymous SNV NM_153021 exon55 c.C3953T p.A1318V 0.253395 0.3204 0.250423 0.2672 0.3421 0.11 T 0.0 P -1.049 T 0.993 D 0.766 D Pathogenic 2_28855088_-->TT 2 28855088 28855088 - TT indel 132.73 0/1 99 26 10 16 0.62 intronic rs3071742 PLB1 AU NM_153021 exon55 c.136026+81insTT 0.230831 0.2401 Uncertain 2_28855918_-->G 2 28855918 28855918 - G indel 3819.73 1/1 99 99 0 99 1.0 intronic rs34314459 PLB1 AU NM_153021 exon56 c.136925+12insG 1 1 1.0000 0.9998 Uncertain 2_28856047_T->C 2 28856047 28856047 T C snp 338.77 0/1 99 20 7 13 0.65 intronic rs3752901 PLB1 AU NM_153021 exon56 c.136925+141T>C 0.261182 0.3214 Uncertain 2_28863738_A->G 2 28863738 28863738 A G snp 1572.77 0/1 99 127 63 64 0.5 intronic rs56350389 PLB1 AU NM_153021 exon57 c.144811-54A>G 0.246406 0.2976 0.253614 Uncertain 2_28865760_T->C 2 28865760 28865760 T C snp 1475.77 0/1 99 152 85 67 0.44 exonic rs2272387 PLB1 AU synonymous SNV NM_153021 exon58 c.T4210C p.L1404L 0.38738 0.3591 0.422036 0.4230 0.4343 0.000 P -0.917 T Likely benign 2_28865968_T->C 2 28865968 28865968 T C snp 56.77 0/1 85 13 10 3 0.23 UTR3 rs57817040 PLB1 AU 0.389377 0.3552 0.410019 0.3784 0.3881 Uncertain 2_28975107_G->C 2 28975107 28975107 G C snp 1315.77 1/1 96 38 0 38 1.0 intronic rs2276547 PPP1CB AU NM_206876 exon2 c.52+65G>C 0.713658 0.7173 0.753600 Uncertain 2_29001691_A->G 2 29001691 29001691 A G snp 829.77 0/1 99 53 17 36 0.68 exonic rs1128416 PPP1CB AU synonymous SNV NM_206876 exon4 c.A201G p.Q67Q 0.495407 0.2153 0.595062 0.5447 0.2144 Uncertain 2_29045323_C->T 2 29045323 29045323 C T snp 1306.77 1/1 93 51 0 51 1.0 intronic rs4436918 SPDYA AU NM_182756 exon5 c.6396+47C>T 0.963658 0.999 0.969465 0.9892 1 Uncertain 2_29052256_T->C 2 29052256 29052256 T C snp 132.77 0/1 99 16 10 6 0.38 intronic rs12998251 SPDYA AU NM_182756 exon6 c.13305+71T>C 0.878395 0.8393 Uncertain 2_29087814_C->A 2 29087814 29087814 C A snp 867.77 0/1 99 54 24 30 0.56 intronic rs55785599 TRMT61B AU NM_017910 exon6 c.14818-68C>A 0.441893 0.7817 Uncertain 2_29092679_T->C 2 29092679 29092679 T C snp 1879.77 0/1 99 179 100 79 0.44 exonic rs4233729 TRMT61B AU synonymous SNV NM_017910 exon1 c.A465G p.E155E 0.505192 0.7817 0.410734 0.4701 0.7824 Uncertain 2_29092850_G->T 2 29092850 29092850 G T snp 3254.77 0/1 99 250 123 127 0.51 exonic rs4666122 TRMT61B AU synonymous SNV NM_017910 exon1 c.C294A p.S98S 0.505192 0.7817 0.410810 0.4692 0.7808 Uncertain 2_29129301_T->- 2 29129301 29129301 T - indel 821.73 0/1 99 92 33 59 0.64 intronic rs36066576 WDR43 AU NM_015131 exon3 c.11761-24delT 0.48143 0.7381 0.4580 0.5179 Uncertain 2_29129418_A->G 2 29129418 29129418 A G snp 2228.77 0/1 99 185 80 105 0.57 exonic rs11688605 WDR43 AU synonymous SNV NM_015131 exon3 c.A456G p.E152E 0.371406 0.7907 0.207841 0.3445 0.7917 Uncertain 2_29135468_C->G 2 29135468 29135468 C G snp 2118.77 0/1 99 195 104 91 0.47 exonic rs6715296 WDR43 AU synonymous SNV NM_015131 exon4 c.C498G p.G166G 0.699281 0.8591 0.673261 0.7265 0.8541 Uncertain 2_29136489_G->T 2 29136489 29136489 G T snp 1392.77 0/1 99 113 51 62 0.55 intronic rs4666132 WDR43 AU NM_015131 exon5 c.19370-445G>T 0.377596 0.7907 0.225497 0.3227 0.7931 Uncertain 2_29136623_T->C 2 29136623 29136623 T C snp 1472.77 0/1 99 121 53 68 0.56 intronic rs4666133 WDR43 AU NM_015131 exon5 c.19370-311T>C 0.377995 0.7907 0.225671 0.3226 0.7925 Uncertain 2_29136653_T->C 2 29136653 29136653 T C snp 1059.77 0/1 99 84 38 46 0.55 intronic rs4666134 WDR43 AU NM_015131 exon5 c.19370-281T>C 0.370208 0.7907 0.218870 0.3193 0.7900 Uncertain 2_29136685_C->T 2 29136685 29136685 C T snp 740.77 0/1 99 54 25 29 0.54 intronic rs12472068 WDR43 AU NM_015131 exon5 c.19370-249C>T 0.377796 0.7907 Uncertain 2_29136774_A->G 2 29136774 29136774 A G snp 415.77 0/1 82 19 3 16 0.84 intronic rs79550638 WDR43 AU NM_015131 exon5 c.19370-160A>G 0.00798722 0.0119 Uncertain 2_29140711_G->A 2 29140711 29140711 G A snp 1905.77 0/1 99 194 107 87 0.45 intronic rs4389288 WDR43 AU NM_015131 exon6 c.23194-47G>A 0.378195 0.7907 0.202978 0.2780 0.7857 Uncertain 2_29145725_G->T 2 29145725 29145725 G T snp 642.77 0/1 99 47 20 27 0.57 intronic rs9653591 WDR43 AU NM_015131 exon7 c.28220-59G>T 0.698682 0.8591 0.672361 Uncertain 2_29161010_G->A 2 29161010 29161010 G A snp 247.77 0/1 99 28 18 10 0.36 intronic rs4233731 WDR43 AU NM_015131 exon14 c.43296+150G>A 0.880791 0.8601 Uncertain 2_29169612_T->C 2 29169612 29169612 T C snp 2085.77 0/1 99 161 79 82 0.51 exonic rs3087649 WDR43 AU synonymous SNV NM_015131 exon18 c.T2001C p.D667D 0.755192 0.8601 0.724257 0.7675 0.8665 Uncertain 2_29222070_G->A 2 29222070 29222070 G A snp 2200.77 1/1 99 77 0 77 1.0 exonic rs13009279 FAM179A AU nonsynonymous SNV NM_199280 exon4 c.G163A p.A55T 0.328474 0.627 0.256763 0.2890 0.6032 0.15 T 0.0 P -0.926 T 0.0 T 0.001 T Pathogenic 2_29222388_G->C 2 29222388 29222388 G C snp 2143.77 1/1 99 72 0 72 1.0 intronic rs57018089 FAM179A AU NM_199280 exon4 c.4634+54G>C 0.519169 0.7907 Uncertain 2_29226498_G->A 2 29226498 29226498 G A snp 4167.77 1/1 99 152 0 152 1.0 exonic rs12613325 FAM179A AU synonymous SNV NM_199280 exon6 c.G780A p.P260P 0.593251 0.6677 0.661926 0.7232 0.6448 Uncertain 2_29226512_A->G 2 29226512 29226512 A G snp 3674.77 1/1 99 130 0 130 1.0 exonic rs12623297 FAM179A AU nonsynonymous SNV NM_199280 exon6 c.A794G p.Q265R 0.744808 0.8274 0.797264 0.8124 0.8123 0.11 T 0.027 P -1.159 T 0.999 D 0.994 D Pathogenic 2_29226559_C->T 2 29226559 29226559 C T snp 1636.77 1/1 99 58 0 58 1.0 intronic rs12619829 FAM179A AU NM_199280 exon6 c.8848+11C>T 0.650359 0.6677 0.745699 0.7742 0.6390 Uncertain 2_29240005_T->C 2 29240005 29240005 T C snp 4813.77 1/1 99 182 1 181 0.99 intronic rs13409097 FAM179A AU NM_199280 exon9 c.22319-14T>C 0.38738 0.5139 0.415627 0.4953 0.5260 Uncertain 2_29245933_G->A 2 29245933 29245933 G A snp 2814.77 1/1 99 104 0 104 1.0 intronic rs13420380 FAM179A AU NM_199280 exon12 c.28251-18G>A 0.316565 0.4158 0.7552 Uncertain 2_29246044_T->C 2 29246044 29246044 T C snp 2014.77 1/1 99 72 0 72 1.0 exonic rs6721861 FAM179A AU nonsynonymous SNV NM_199280 exon12 c.T1604C p.V535A 0.474441 0.7044 0.402612 0.4306 0.7438 1 T 0.000 P -0.964 T 0.0 T 0.0 T Pathogenic 2_29247304_C->T 2 29247304 29247304 C T snp 2432.77 1/1 99 86 2 84 0.98 intronic rs66715573 FAM179A AU NM_199280 exon13 c.29540+64C>T 0.21865 0.4871 Uncertain 2_29268375_A->C 2 29268375 29268375 A C snp 5260.77 1/1 99 204 5 199 0.98 intronic rs2276551 FAM179A AU NM_199280 exon19 c.50576+99A>C 0.232228 0.5159 0.121551 0.1839 0.5473 Uncertain 2_29274704_C->T 2 29274704 29274704 C T snp 6239.77 1/1 99 233 0 233 1.0 exonic rs61749512 FAM179A AU synonymous SNV NM_199280 exon20 c.C2805T p.T935T 0.225439 0.5099 0.105924 0.1910 0.5522 Uncertain 2_29274720_A->G 2 29274720 29274720 A G snp 6161.77 1/1 99 229 1 228 1.0 exonic rs895591 FAM179A AU nonsynonymous SNV NM_199280 exon20 c.A2821G p.T941A 0.587061 0.6905 0.538974 0.6024 0.7167 0.55 T 0.0 P -1.002 T 0.038 T 0.036 T Pathogenic 2_29355303_C->T 2 29355303 29355303 C T snp 553.77 1/1 42 18 0 18 1.0 intronic rs4666167 CLIP4 AU NM_024692 exon4 c.10857+192C>T 0.811701 0.9276 Uncertain 2_29356669_A->G 2 29356669 29356669 A G snp 4056.77 1/1 99 143 1 142 0.99 exonic rs3100232 CLIP4 AU synonymous SNV NM_001287527 exon5 c.A516G p.T172T 0.415136 0.3204 0.468169 0.3704 0.3150 Uncertain 2_29356728_T->C 2 29356728 29356728 T C snp 1832.77 1/1 99 52 0 52 1.0 intronic rs3768674 CLIP4 AU NM_024692 exon5 c.12428+46T>C 0.236022 0.249 0.227699 0.1958 0.2482 Uncertain 2_29366875_-->ACAG 2 29366875 29366875 - ACAG indel 1772.73 0/1 99 50 17 33 0.66 intronic rs3217572 CLIP4 AU NM_024692 exon7 c.22557+64insACAG Uncertain 2_29380393_C->G 2 29380393 29380393 C G snp 68.77 0/1 30 4 1 3 0.75 intronic rs10192072 CLIP4 AU NM_024692 exon11 c.35959+180C>G 0.471845 0.7708 Uncertain 2_29383374_G->A 2 29383374 29383374 G A snp 181.77 0/1 99 18 10 8 0.44 intronic rs2305450 CLIP4 AU NM_024692 exon12 c.39079+41G>A 0.863618 0.876 0.876903 0.8924 0.8686 Uncertain 2_29386646_G->C 2 29386646 29386646 G C snp 2736.77 1/1 99 83 0 83 1.0 intronic rs10200936 CLIP4 AU NM_024692 exon13 c.42442-50G>C 0.656949 0.875 0.502384 0.5470 0.8833 Uncertain 2_29404251_G->A 2 29404251 29404251 G A snp 86.77 0/1 30 4 1 3 0.75 intronic rs10178180 CLIP4 AU NM_024692 exon16 c.60183-186G>A 0.364018 0.7183 Uncertain 2_29416025_-->ATTG 2 29416025 29416025 - ATTG indel 274.73 0/1 99 10 5 5 0.5 UTR3 rs10625834 ALK AU 0.397165 0.7292 Uncertain 2_29416366_G->C 2 29416366 29416366 G C snp 2039.77 0/1 99 175 97 78 0.45 exonic rs1881421 ALK AU nonsynonymous SNV NM_004304 exon29 c.C4587G p.D1529E 0.572883 0.7292 0.433492 0.4600 0.7465 1 T 0.0 P -0.993 T 0.0 T 0.0 T CLINSIG=untested;CLNDBN=not_specified;CLNREVSTAT=no_assertion_provided;CLNACC=RCV000119980.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 ID=COSM3758201;OCCURENCE=1(large_intestine) Pathogenic 2_29416481_T->C 2 29416481 29416481 T C snp 2627.77 0/1 99 250 137 113 0.45 exonic rs1881420 ALK AU nonsynonymous SNV NM_004304 exon29 c.A4472G p.K1491R 0.415136 0.7312 0.223358 0.3318 0.7476 0.38 T 0.000 P -0.933 T 0.0 T 0.003 T CLINSIG=untested;CLNDBN=not_specified;CLNREVSTAT=no_assertion_provided;CLNACC=RCV000119978.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 ID=COSM1130802;OCCURENCE=1(prostate) Pathogenic 2_29416572_T->C 2 29416572 29416572 T C snp 6768.77 1/1 99 244 0 244 1.0 exonic rs1670283 ALK AU nonsynonymous SNV NM_004304 exon29 c.A4381G p.I1461V 0.992212 1 0.990312 0.9972 1 0.0 P -0.987 T 0.0 T 0.0 T CLINSIG=untested;CLNDBN=not_specified;CLNREVSTAT=no_assertion_provided;CLNACC=RCV000119976.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 2_29416946_T->C 2 29416946 29416946 T C snp 153.77 0/1 63 7 2 5 0.71 intronic rs12619135 ALK AU NM_004304 exon1 c.699+158T>C 0.414537 0.7302 Uncertain 2_29419591_G->T 2 29419591 29419591 G T snp 1807.77 0/1 99 149 74 75 0.5 intronic rs1670284 ALK AU NM_004304 exon2 c.3546-44G>T 0.420727 0.2698 0.546978 0.5279 0.2524 Uncertain 2_29420315_C->T 2 29420315 29420315 C T snp 73.77 0/1 33 6 2 4 0.67 intronic rs3738870 ALK AU NM_004304 exon3 c.4318-92C>T 0.39397 0.7252 Uncertain 2_29430943_TC->- 2 29430943 29430944 TC - indel 1019.73 0/1 99 64 25 39 0.61 intronic rs3832036 ALK AU NM_004304 exon4 c.14049+805_14049+806delTC 0.389577 0.7163 0.3413 0.7879 Uncertain 2_29444076_G->T 2 29444076 29444076 G T snp 786.77 0/1 99 51 17 34 0.67 intronic rs1534545 ALK AU NM_004304 exon7 c.27612+375G>T 0.374601 0.7173 0.3087 0.7480 0.000 P -0.916 T Uncertain 2_29444095_C->T 2 29444095 29444095 C T snp 1165.77 1/1 84 40 0 40 1.0 intronic rs1569156 ALK AU NM_004304 exon7 c.27612+394C>T 0.914736 0.9286 0.9757 0.9573 0.0 P Uncertain 2_29445458_G->T 2 29445458 29445458 G T snp 1153.77 0/1 99 70 27 43 0.61 exonic rs3795850 ALK AU synonymous SNV NM_004304 exon21 c.C3375A p.G1125G 0.415935 0.7173 0.221436 0.3271 0.7378 Uncertain 2_29446184_C->G 2 29446184 29446184 C G snp 1582.77 0/1 99 124 57 67 0.54 intronic rs2276550 ALK AU NM_004304 exon10 c.30118-23C>G 0.420727 0.7381 0.223435 0.3312 0.7591 Uncertain 2_29449819_C->T 2 29449819 29449819 C T snp 863.77 0/1 99 69 33 36 0.52 exonic rs2293563 ALK AU synonymous SNV NM_004304 exon18 c.G3036A p.T1012T 0.169928 0.119 0.189605 0.1591 0.1197 ID=COSM148824;OCCURENCE=1(stomach) Uncertain 2_29455267_A->G 2 29455267 29455267 A G snp 2345.77 0/1 99 206 108 98 0.48 exonic rs2256740 ALK AU synonymous SNV NM_004304 exon15 c.T2535C p.G845G 0.5 0.1746 0.661387 0.6121 0.1747 ID=COSM148825;OCCURENCE=1(stomach) Uncertain 2_29498210_A->G 2 29498210 29498210 A G snp 904.77 1/1 66 28 0 28 1.0 intronic rs4589708 ALK AU NM_004304 exon20 c.82178-57A>G 0.851438 0.8006 Uncertain 2_29519622_C->T 2 29519622 29519622 C T snp 976.77 1/1 72 31 0 31 1.0 intronic rs2272409 ALK AU NM_004304 exon21 c.103664-131C>T 0.704673 0.8244 Uncertain 2_29525341_A->G 2 29525341 29525341 A G snp 926.77 1/1 69 27 0 27 1.0 intronic rs11127213 ALK AU NM_004304 exon21 c.103834+5418A>G 0.878994 0.8413 Uncertain 2_29525345_T->C 2 29525345 29525345 T C snp 1067.77 1/1 78 32 0 32 1.0 intronic rs11127214 ALK AU NM_004304 exon21 c.103834+5422T>C 0.740815 0.8363 Uncertain 2_29525654_C->T 2 29525654 29525654 C T snp 603.77 1/1 45 16 0 16 1.0 intronic rs11127215 ALK AU NM_004304 exon21 c.103834+5731C>T 0.652756 0.8294 Uncertain 2_29541104_C->T 2 29541104 29541104 C T snp 1787.77 1/1 99 62 0 62 1.0 intronic rs2276549 ALK AU NM_004304 exon22 c.125080-65C>T 0.584665 0.7966 Uncertain 2_29543663_T->C 2 29543663 29543663 T C snp 1421.77 1/1 99 49 0 49 1.0 exonic rs2293564 ALK AU synonymous SNV NM_004304 exon7 c.A1500G p.Q500Q 0.776558 0.9206 0.790943 0.8716 0.9081 ID=COSM4133810;OCCURENCE=1(thyroid) Uncertain 2_29917940_C->G 2 29917940 29917940 C G snp 605.77 0/1 99 40 16 24 0.6 intronic rs2256376 ALK AU NM_004304 exon27 c.501791+60C>G 0.607628 0.7778 Uncertain 2_29940529_A->T 2 29940529 29940529 A T snp 2065.77 0/1 99 227 131 96 0.42 exonic rs2246745 ALK AU synonymous SNV NM_004304 exon2 c.T702A p.P234P 0.589257 0.7827 0.627018 0.7335 0.7604 Uncertain 2_30142808_A->T 2 30142808 30142808 A T snp 926.77 0/1 99 85 45 40 0.47 intronic rs188788016 ALK AU NM_004304 exon29 c.726769-50A>T 0.00159744 0.0079 0.0007 0.0099 Uncertain 2_30143499_G->C 2 30143499 30143499 G C snp 652.77 1/1 48 18 0 18 1.0 exonic rs4358080 ALK AU synonymous SNV NM_004304 exon1 c.C27G p.L9L 0.89377 0.998 0.909286 0.8949 1 ID=COSM3749653;OCCURENCE=4(large_intestine) Uncertain 2_30381505_T->C 2 30381505 30381505 T C snp 618.77 1/1 45 22 0 22 1.0 exonic rs1137288 YPEL5 AU synonymous SNV NM_016061 exon3 c.T162C p.S54S 0.46885 0.7401 0.423189 0.4619 0.7135 Uncertain 2_30682360_G->A 2 30682360 30682360 G A snp 744.77 0/1 99 56 28 28 0.5 intronic rs829574 LCLAT1 AU 0.730232 0.8601 Uncertain 2_30775299_G->A 2 30775299 30775299 G A snp 185.77 0/1 99 14 7 7 0.5 intronic rs12053428 LCLAT1 AU NM_001002257 exon4 c.36555-9712G>A 0.884984 0.9375 Uncertain 2_30790818_G->T 2 30790818 30790818 G T snp 96.28 1/1 9 3 0 3 1.0 intronic rs6759011 LCLAT1 AU NM_001002257 exon5 c.42469-107G>T 0.85004 0.9375 Uncertain 2_30791152_A->G 2 30791152 30791152 A G snp 484.77 0/1 99 30 12 18 0.6 intronic rs6749074 LCLAT1 AU NM_001002257 exon5 c.42586+110A>G 0.74381 0.8651 Uncertain 2_30828792_G->A 2 30828792 30828792 G A snp 671.77 0/1 99 53 25 28 0.53 intronic rs2248777 LCLAT1 AU NM_001002257 exon6 c.114526-34190G>A 0.717851 0.7252 Uncertain 2_30955176_A->G 2 30955176 30955176 A G snp 80.77 0/1 30 4 1 3 0.75 intronic rs2593433 CAPN13 AU NM_144575 exon4 c.1678-127A>G 0.428714 0.5 Uncertain 2_30955528_C->A 2 30955528 30955528 C A snp 111.77 0/1 99 11 6 5 0.45 intronic rs2276567 CAPN13 AU NM_144575 exon4 c.1807+96C>A 0.790535 0.7073 Uncertain 2_30959262_G->T 2 30959262 30959262 G T snp 1163.77 0/1 99 79 31 48 0.61 intronic rs509380 CAPN13 AU NM_144575 exon6 c.5743-106G>T 0.674321 0.5774 Uncertain 2_30973825_C->A 2 30973825 30973825 C A snp 272.77 0/1 99 25 15 10 0.4 intronic rs1879283 CAPN13 AU NM_144575 exon13 c.20342-142C>A 0.394369 0.2669 Uncertain 2_30976058_C->T 2 30976058 30976058 C T snp 4055.77 1/1 99 143 0 143 1.0 exonic rs2926304 CAPN13 AU synonymous SNV NM_144575 exon10 c.G948A p.S316S 0.383786 0.5109 0.328394 0.4356 0.5229 Uncertain 2_30977073_G->A 2 30977073 30977073 G A snp 4572.77 1/1 99 158 0 158 1.0 intronic rs485100 CAPN13 AU NM_144575 exon15 c.23530-82G>A 0.831869 0.7431 Uncertain 2_30977354_C->T 2 30977354 30977354 C T snp 267.8 1/1 21 7 0 7 1.0 intronic rs482384 CAPN13 AU NM_144575 exon15 c.23605+124C>T 0.83147 0.7431 Uncertain 2_30980940_C->T 2 30980940 30980940 C T snp 2111.77 1/1 99 68 0 68 1.0 exonic rs508405 CAPN13 AU nonsynonymous SNV NM_144575 exon8 c.G838A p.A280T 0.790136 0.7619 0.755550 0.7337 0.7783 0.39 T 0.0 P -0.962 T 0.0 T 0.0 T ID=CM065993;DIS=Leukemia, risk, association with;TAG=DP;PUB=16574953 DP Pathogenic 2_30985977_G->A 2 30985977 30985977 G A snp 551.77 0/1 99 61 34 27 0.44 exonic rs17010210 CAPN13 AU nonsynonymous SNV NM_144575 exon7 c.C745T p.H249Y 0.0181709 0.0704 0.003711 0.0132 0.0904 0 D 1 D -0.680 T 1.0 D 1.0 D ID=COSM148827;OCCURENCE=1(stomach) Pathogenic 2_30986989_G->T 2 30986989 30986989 G T snp 4065.77 1/1 99 149 0 149 1.0 intronic rs579016 CAPN13 AU NM_144575 exon18 c.33372-8G>T 0.871406 0.8631 0.877170 0.9042 0.8708 Uncertain 2_31009977_G->C 2 31009977 31009977 G C snp 224.84 1/1 18 6 0 6 1.0 intronic rs1915125 CAPN13 AU NM_144575 exon22 c.56368-16G>C 0.915935 0.9167 0.869952 0.8889 0.9217 Uncertain 2_31152394_T->C 2 31152394 31152394 T C snp 541.77 0/1 99 32 10 22 0.69 intronic rs147331723 GALNT14 AU NM_001253827 exon5 c.18587+41T>C 0.00539137 0.0228 0.000077 0.0014 0.0177 Uncertain 2_31178393_T->C 2 31178393 31178393 T C snp 2413.77 1/1 99 81 0 81 1.0 intronic rs73923310 GALNT14 AU NM_001253827 exon10 c.44717-90T>C 0.130192 0.2044 Uncertain 2_31178818_C->T 2 31178818 31178818 C T snp 1828.77 1/1 99 65 0 65 1.0 exonic rs2288100 GALNT14 AU synonymous SNV NM_024572 exon5 c.G492A p.K164K 0.127995 0.2034 0.132247 0.1541 0.2059 Uncertain 2_31188957_C->T 2 31188957 31188957 C T snp 851.77 1/1 63 28 0 28 1.0 intronic rs889896 GALNT14 AU NM_001253827 exon13 c.55303-112C>T 0.976238 1 Uncertain 2_31397696_G->C 2 31397696 31397696 G C snp 438.77 0/1 99 41 20 21 0.51 intronic rs10168043 CAPN14 AU NM_001145122 exon1 c.27+123G>C 0.365815 0.2133 Uncertain 2_31397727_T->C 2 31397727 31397727 T C snp 375.77 0/1 99 26 13 13 0.5 intronic rs10180369 CAPN14 AU NM_001145122 exon1 c.27+154T>C 0.374201 0.2143 Uncertain 2_31399358_T->G 2 31399358 31399358 T G snp 258.77 0/1 99 21 10 11 0.52 intronic rs7570373 CAPN14 AU NM_001145122 exon2 c.1906-94T>G 0.365016 0.1756 Uncertain 2_31399414_G->C 2 31399414 31399414 G C snp 1025.77 0/1 99 97 55 42 0.43 intronic rs7556787 CAPN14 AU NM_001145122 exon2 c.1906-38G>C 0.36262 0.1756 0.2918 0.1952 Uncertain 2_31399659_T->C 2 31399659 31399659 T C snp 1379.77 0/1 99 105 46 59 0.56 intronic rs6720151 CAPN14 AU NM_001145122 exon2 c.1962+151T>C 0.402955 0.1776 Uncertain 2_31399751_T->G 2 31399751 31399751 T G snp 662.77 0/1 99 52 29 23 0.44 intronic rs6720254 CAPN14 AU NM_001145122 exon3 c.2345-140T>G 0.364217 0.1756 Uncertain 2_31399988_C->T 2 31399988 31399988 C T snp 1274.77 0/1 99 118 68 50 0.42 exonic rs4592896 CAPN14 AU nonsynonymous SNV NM_001145122 exon20 c.G1876A p.V626I 0.364617 0.1736 0.322164 0.2929 0.1891 0.27 T 0.0 P -0.945 T 0.366 T 0.035 T Pathogenic 2_31400039_A->G 2 31400039 31400039 A G snp 514.77 0/1 99 49 31 18 0.37 intronic rs4516476 CAPN14 AU NM_001145122 exon3 c.2462+31A>G 0.363618 0.1756 0.320193 0.2952 0.1906 Uncertain 2_31400502_A->C 2 31400502 31400502 A C snp 40.77 0/1 69 7 4 3 0.43 intronic rs13421721 CAPN14 AU NM_001145122 exon4 c.3065-109A>C 0.409145 0.1766 Uncertain 2_31400510_G->A 2 31400510 31400510 G A snp 114.77 0/1 99 9 4 5 0.56 intronic rs1443707 CAPN14 AU NM_001145122 exon4 c.3065-101G>A 0.36222 0.1746 Uncertain 2_31400722_G->A 2 31400722 31400722 G A snp 923.77 0/1 99 89 47 42 0.47 intronic rs1443706 CAPN14 AU NM_001145122 exon4 c.3141+35G>A 0.36222 0.1746 0.2898 0.1934 Uncertain 2_31400867_T->C 2 31400867 31400867 T C snp 135.77 0/1 99 19 13 6 0.32 intronic rs1373216 CAPN14 AU NM_001145122 exon4 c.3141+180T>C 0.336861 0.1577 Uncertain 2_31401188_A->C 2 31401188 31401188 A C snp 224.77 0/1 99 12 5 7 0.58 intronic rs4951967 CAPN14 AU NM_001145122 exon5 c.3830-188A>C 0.110823 0.0804 Uncertain 2_31401290_A->C 2 31401290 31401290 A C snp 1604.77 1/1 99 55 0 55 1.0 intronic rs4952052 CAPN14 AU NM_001145122 exon5 c.3830-86A>C 0.987021 1 Uncertain 2_31401499_G->A 2 31401499 31401499 G A snp 437.77 0/1 99 45 26 19 0.42 intronic rs28684727 CAPN14 AU NM_001145122 exon5 c.3899+54G>A 0.342851 0.1577 Uncertain 2_31403947_G->A 2 31403947 31403947 G A snp 460.77 0/1 99 39 22 17 0.44 intronic rs2028678 CAPN14 AU NM_001145122 exon6 c.6320+81G>A 0.358027 0.1746 Uncertain 2_31409115_T->C 2 31409115 31409115 T C snp 216.77 0/1 99 17 10 7 0.41 intronic rs10445909 CAPN14 AU NM_001145122 exon7 c.11747-178T>C 0.358826 0.1756 Uncertain 2_31410653_C->T 2 31410653 31410653 C T snp 2135.77 0/1 99 208 113 95 0.46 exonic rs7422120 CAPN14 AU nonsynonymous SNV NM_001145122 exon15 c.G1558A p.D520N 0.328275 0.1558 0.272887 0.2488 0.1779 0.16 T 0.0 P -0.918 T 0.001 T 0.001 T Pathogenic 2_31410708_C->T 2 31410708 31410708 C T snp 5862.77 1/1 99 217 0 217 1.0 intronic rs1822496 CAPN14 AU NM_001145122 exon8 c.13134+28C>T 0.998403 1 0.997810 0.9995 1 Uncertain 2_31410728_C->A 2 31410728 31410728 C A snp 2360.77 0/1 99 197 95 102 0.52 intronic rs764072 CAPN14 AU NM_001145122 exon8 c.13134+48C>A 0.330072 0.1558 0.271353 0.2435 0.1748 Uncertain 2_31411184_C->A 2 31411184 31411184 C A snp 2292.77 0/1 99 245 143 102 0.42 exonic rs1465972 CAPN14 AU nonsynonymous SNV NM_001145122 exon14 c.G1530T p.K510N 0.330272 0.1558 0.272887 0.2479 0.1761 0.094 P -0.934 T 0.835 T 0.398 P Pathogenic 2_31411242_C->A 2 31411242 31411242 C A snp 2116.77 0/1 99 248 155 93 0.38 intronic rs1465973 CAPN14 AU NM_001145122 exon9 c.13674+22C>A 0.330272 0.1558 0.272011 0.2465 0.1661 Uncertain 2_31411310_C->T 2 31411310 31411310 C T snp 1468.77 0/1 99 159 93 66 0.42 intronic rs1465974 CAPN14 AU NM_001145122 exon9 c.13674+90C>T 0.330272 0.1558 Uncertain 2_31411365_G->A 2 31411365 31411365 G A snp 646.77 0/1 99 51 26 25 0.49 intronic rs1465975 CAPN14 AU NM_001145122 exon9 c.13674+145G>A 0.324281 0.1558 Uncertain 2_31412096_T->C 2 31412096 31412096 T C snp 101.77 0/1 99 9 5 4 0.44 intronic rs55741080 CAPN14 AU NM_001145122 exon10 c.14592-42T>C 0.321086 0.1558 0.263469 0.2467 0.1768 Uncertain 2_31412443_T->C 2 31412443 31412443 T C snp 1744.77 0/1 99 101 37 64 0.63 intronic rs13382984 CAPN14 AU NM_001145122 exon10 c.14798+99T>C 0.321086 0.1558 Uncertain 2_31412517_G->A 2 31412517 31412517 G A snp 2459.77 0/1 99 250 149 101 0.4 intronic rs142654076 CAPN14 AU NM_001145122 exon10 c.14798+173G>A 0.00419329 0.0208 0.0003 0.0245 Uncertain 2_31412646_T->C 2 31412646 31412646 T C snp 2957.77 0/1 99 237 115 122 0.51 intronic rs1562021 CAPN14 AU NM_001145122 exon10 c.14798+302T>C 0.321685 0.1558 Uncertain 2_31412670_C->T 2 31412670 31412670 C T snp 2617.77 0/1 99 215 104 111 0.52 intronic rs1465976 CAPN14 AU NM_001145122 exon10 c.14798+326C>T 0.295527 0.1181 Uncertain 2_31414223_G->A 2 31414223 31414223 G A snp 303.77 0/1 99 26 14 12 0.46 intronic rs13408524 CAPN14 AU NM_001145122 exon11 c.16718-41G>A 0.310903 0.1538 0.262593 0.2339 0.1792 Uncertain 2_31414807_C->G 2 31414807 31414807 C G snp 1751.77 1/1 99 63 0 63 1.0 exonic rs1562022 CAPN14 AU synonymous SNV NM_001145122 exon11 c.G1272C p.L424L 0.913938 0.9692 0.906702 0.9225 0.9688 Uncertain 2_31415077_G->A 2 31415077 31415077 G A snp 2900.77 1/1 99 106 0 106 1.0 intronic rs10192210 CAPN14 AU NM_001145122 exon12 c.17418+113G>A 0.270168 0.3681 Uncertain 2_31420245_A->G 2 31420245 31420245 A G snp 3015.77 1/1 99 107 0 107 1.0 intronic rs7568661 CAPN14 AU NM_001145122 exon15 c.22654+45A>G 0.243411 0.373 0.165134 0.1884 0.4019 Uncertain 2_31420383_G->C 2 31420383 31420383 G C snp 349.78 1/1 27 10 0 10 1.0 intronic rs7595609 CAPN14 AU NM_001145122 exon15 c.22654+183G>C 0.243411 0.373 Uncertain 2_31422187_G->A 2 31422187 31422187 G A snp 93.28 1/1 9 3 0 3 1.0 intronic rs7602817 CAPN14 AU NM_001145122 exon16 c.24789-148G>A 0.243211 0.373 Uncertain 2_31422452_T->A 2 31422452 31422452 T A snp 2411.77 1/1 99 83 0 83 1.0 intronic rs7563977 CAPN14 AU NM_001145122 exon16 c.24852+54T>A 0.243211 0.373 0.165353 Uncertain 2_31422514_T->A 2 31422514 31422514 T A snp 1300.77 1/1 93 49 0 49 1.0 intronic rs7564077 CAPN14 AU NM_001145122 exon16 c.24852+116T>A 0.242812 0.373 Uncertain 2_31422601_A->T 2 31422601 31422601 A T snp 438.77 1/1 33 14 0 14 1.0 intronic rs7576637 CAPN14 AU NM_001145122 exon16 c.24852+203A>T 0.242612 0.373 Uncertain 2_31423443_G->A 2 31423443 31423443 G A snp 1741.77 1/1 99 66 0 66 1.0 exonic rs17011001 CAPN14 AU synonymous SNV NM_001145122 exon6 c.C600T p.A200A 0.242812 0.373 0.165134 0.1851 0.3987 Uncertain 2_31428030_G->T 2 31428030 31428030 G T snp 57.74 1/1 6 3 0 3 1.0 intronic rs1867329 CAPN14 AU NM_001145122 exon21 c.30542-58G>T 0.214457 0.3512 Uncertain 2_31457817_T->C 2 31457817 31457817 T C snp 730.77 1/1 54 20 0 20 1.0 intronic rs2236170 EHD3 AU NM_014600 exon1 c.227+103T>C 0.551518 0.7341 Uncertain 2_31467079_G->A 2 31467079 31467079 G A snp 741.77 1/1 57 23 0 23 1.0 intronic rs2295471 EHD3 AU NM_014600 exon2 c.9652-60G>A 0.534944 0.7183 Uncertain 2_31467351_T->A 2 31467351 31467351 T A snp 2698.77 1/1 99 93 0 93 1.0 intronic rs2295473 EHD3 AU NM_014600 exon2 c.9829+35T>A 0.666534 0.7976 0.563586 0.6405 0.8088 Uncertain 2_31483890_T->C 2 31483890 31483890 T C snp 837.77 1/1 63 22 0 22 1.0 intronic rs13028669 EHD3 AU NM_014600 exon4 c.26301+102T>C 0.669529 0.7718 Uncertain 2_31484334_G->A 2 31484334 31484334 G A snp 2708.77 1/1 99 85 0 85 1.0 intronic rs654650 EHD3 AU NM_014600 exon5 c.26927-80G>A 0.894369 0.9365 Uncertain 2_31488965_C->T 2 31488965 31488965 C T snp 1019.77 1/1 75 34 0 34 1.0 intronic rs619002 EHD3 AU NM_014600 exon6 c.31555-77C>T 0.900359 0.9335 Uncertain 2_31489727_T->C 2 31489727 31489727 T C snp 54.74 1/1 6 2 0 2 1.0 UTR3 rs644926 EHD3 AU 0.901158 0.9355 Uncertain 2_31565360_C->T 2 31565360 31565360 C T snp 139.03 1/1 12 4 0 4 1.0 intronic rs12614330 XDH AR NM_000379 exon5 c.6340+197C>T 0.407548 0.5397 Uncertain 2_31567743_T->C 2 31567743 31567743 T C snp 1762.77 1/1 99 58 0 58 1.0 intronic rs566224 XDH AR NM_000379 exon6 c.8779+141T>C 0.996406 1 Uncertain 2_31569471_A->G 2 31569471 31569471 A G snp 1069.77 1/1 81 36 0 36 1.0 intronic rs7599175 XDH AR NM_000379 exon7 c.10811-163A>G 0.797724 0.8442 Uncertain 2_31570376_T->C 2 31570376 31570376 T C snp 1034.77 1/1 75 35 0 35 1.0 intronic rs1366813 XDH AR NM_000379 exon8 c.11564-11T>C 0.777356 0.8472 0.751730 0.7785 0.8529 CLINSIG=probable-pathogenic;CLNDBN=not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000171492.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Uncertain 2_31570626_C->T 2 31570626 31570626 C T snp 458.77 1/1 36 14 0 14 1.0 intronic rs4952083 XDH AR NM_000379 exon8 c.11693+110C>T 0.796725 0.8472 Uncertain 2_31570631_A->G 2 31570631 31570631 A G snp 356.78 1/1 27 12 0 12 1.0 intronic rs4952084 XDH AR NM_000379 exon8 c.11693+115A>G 0.797125 0.8482 Uncertain 2_31571241_G->C 2 31571241 31571241 G C snp 1593.77 1/1 99 54 0 54 1.0 intronic rs13415401 XDH AR NM_000379 exon9 c.12406+12G>C 0.768371 0.8433 0.742965 0.7761 0.8503 Uncertain 2_31571644_A->C 2 31571644 31571644 A C snp 472.77 0/1 99 54 31 23 0.43 intronic XDH AR NM_000379 exon10 c.12941-120A>C Uncertain 2_31571786_A->G 2 31571786 31571786 A G snp 2781.77 1/1 99 104 0 104 1.0 exonic rs1884725 XDH AR synonymous SNV NM_000379 exon27 c.T3030C p.F1010F 0.79992 0.8482 0.772951 0.7863 0.8534 Uncertain 2_31572398_A->G 2 31572398 31572398 A G snp 407.77 0/1 99 24 10 14 0.58 intronic rs1429374 XDH AR NM_000379 exon11 c.13728-153A>G 0.601038 0.7659 Uncertain 2_31572482_-->G 2 31572482 31572482 - G indel 3483.73 1/1 99 94 0 94 1.0 intronic rs11408029 XDH AR NM_000379 exon11 c.13728-69insG Uncertain 2_31587142_A->G 2 31587142 31587142 A G snp 537.77 0/1 99 64 40 24 0.38 intronic rs6760292 XDH AR NM_000379 exon13 c.28287+32A>G 0.0644968 0.0942 0.055744 0.0392 0.0864 Uncertain 2_31587235_G->A 2 31587235 31587235 G A snp 909.77 1/1 66 37 0 37 1.0 intronic rs1018505 XDH AR NM_000379 exon13 c.28287+125G>A 0.770168 0.8403 Uncertain 2_31588288_T->A 2 31588288 31588288 T A snp 3789.77 1/1 99 145 0 145 1.0 intronic rs2365842 XDH AR NM_000379 exon14 c.29499-34T>A 0.662141 0.8284 0.632324 0.7093 0.8294 Uncertain 2_31588561_A->C 2 31588561 31588561 A C snp 50.74 1/1 6 2 0 2 1.0 intronic rs1429376 XDH AR NM_000379 exon14 c.29587+151A>C 0.774561 0.8284 Uncertain 2_31589847_G->A 2 31589847 31589847 G A snp 1621.77 0/1 99 160 85 75 0.47 exonic rs2295475 XDH AR synonymous SNV NM_000379 exon21 c.C2211T p.I737I 0.270168 0.3343 0.233508 0.3037 0.3487 Uncertain 2_31590785_C->G 2 31590785 31590785 C G snp 1174.77 0/1 99 79 32 47 0.59 intronic rs761926 XDH AR NM_000379 exon17 c.32003-41C>G 0.273163 0.3423 0.228741 0.3034 0.3634 Uncertain 2_31598485_T->C 2 31598485 31598485 T C snp 179.9 1/1 15 6 0 6 1.0 intronic rs2070294 XDH AR NM_000379 exon22 c.39597+65T>C 0.316494 0.4653 Uncertain 2_31600146_T->C 2 31600146 31600146 T C snp 432.77 1/1 33 12 0 12 1.0 intronic rs10187719 XDH AR NM_000379 exon23 c.41280+43T>C 0.750799 0.7639 0.737660 0.7320 0.7600 Uncertain 2_31609448_A->C 2 31609448 31609448 A C snp 2776.77 1/1 99 102 0 102 1.0 intronic rs477626 XDH AR NM_000379 exon28 c.50598+27A>C 1 1 1.0000 1 Uncertain 2_31805619_T->C 2 31805619 31805619 T C snp 849.77 1/1 63 27 0 27 1.0 intronic rs619857 SRD5A2 AR NM_000348 exon5 c.54424-70T>C 1 1 Uncertain 2_31805675_A->G 2 31805675 31805675 A G snp 655.77 0/1 99 60 33 27 0.45 intronic rs522638 SRD5A2 AR NM_000348 exon5 c.54424-14A>G 0.642372 0.4792 0.701309 0.6844 0.5310 CLINSIG=untested;CLNDBN=not_provided;CLNREVSTAT=no_assertion_provided;CLNACC=RCV000083653.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Uncertain 2_31805706_G->C 2 31805706 31805706 G C snp 601.77 0/1 99 73 44 29 0.4 exonic rs523349 SRD5A2 AR unknown 0.652157 0.4792 0.724468 0.6999 0.5396 CLINSIG=untested;CLNDBN=not_provided;CLNREVSTAT=no_assertion_provided;CLNACC=RCV000083650.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Uncertain 2_31805880_-->G 2 31805880 31805880 - G indel 5651.73 1/1 99 142 0 142 1.0 exonic rs142200057 SRD5A2 AR unknown 1 1 1.0000 1 Uncertain 2_31806031_C->G 2 31806031 31806031 C G snp 406.77 0/1 99 24 10 14 0.58 UTR5 rs632148 SRD5A2 AR 0.640375 0.4792 CLINSIG=untested;CLNDBN=not_provided;CLNREVSTAT=no_assertion_provided;CLNACC=RCV000083635.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Uncertain 2_32312700_T->C 2 32312700 32312700 T C snp 211.8 0/1 21 10 1 9 0.9 intronic rs7561519 SPAST AD NM_014946 exon2 c.23747+53T>C 0.49381 0.6498 0.418747 Uncertain 2_32314473_A->T 2 32314473 32314473 A T snp 43.77 0/1 72 6 3 3 0.5 intronic rs469305 SPAST AD NM_014946 exon3 c.25690-117A>T 0.499002 0.627 Uncertain 2_32324072_T->C 2 32324072 32324072 T C snp 440.77 0/1 99 29 12 17 0.59 intronic rs7566162 SPAST AD NM_014946 exon4 c.35060+112T>C 0.483427 0.6488 Uncertain 2_32341399_A->G 2 32341399 32341399 A G snp 46.77 0/1 33 3 1 2 0.67 intronic rs12617289 SPAST AD NM_014946 exon7 c.52381+118A>G 0.493011 0.6538 Uncertain 2_32362079_-->TATA 2 32362079 32362079 - TATA indel 1162.73 0/1 99 64 31 33 0.52 intronic rs10627985 SPAST AD NM_014946 exon11 c.73137+42insTATA 0.472444 0.6528 0.357269 0.3940 0.6301 Uncertain 2_32369901_T->C 2 32369901 32369901 T C snp 349.78 1/1 27 12 0 12 1.0 intronic rs2365556 SPAST AD NM_014946 exon15 c.81105-104T>C 0.973043 1 Uncertain 2_32402636_C->T 2 32402636 32402636 C T snp 298.77 0/1 99 31 16 15 0.48 exonic rs4258846 SLC30A6 AU synonymous SNV NM_001193513 exon5 c.C309T p.N103N 0.317292 0.3571 0.4337 0.4688 Uncertain 2_32418808_T->A 2 32418808 32418808 T A snp 425.77 0/1 99 21 5 16 0.76 intronic rs212751 SLC30A6 AU NM_001193515 exon7 c.27988-149T>A 0.667332 0.5079 Uncertain 2_32434701_A->G 2 32434701 32434701 A G snp 43.77 0/1 72 6 3 3 0.5 intronic rs212685 SLC30A6 AU NM_001193515 exon12 c.43661+71A>G 0.669529 0.501 Uncertain 2_32449877_T->A 2 32449877 32449877 T A snp 70.77 0/1 99 17 12 5 0.29 intronic rs2366742 NLRC4 AD NM_021209 exon1 c.293+43T>A 0.409545 0.375 2.724e-05 0 Uncertain 2_32449878_T->A 2 32449878 32449878 T A snp 109.77 0/1 99 17 11 6 0.35 intronic rs199847843 NLRC4 AD NM_021209 exon1 c.293+44T>A 0.446885 0.4107 8.211e-05 0 Uncertain 2_32449879_T->A 2 32449879 32449879 T A snp 112.77 0/1 99 16 9 7 0.44 intronic rs200950944 NLRC4 AD NM_021209 exon1 c.293+45T>A 0.48722 0.4425 0.0106 0.0169 Uncertain 2_32460348_A->G 2 32460348 32460348 A G snp 130.77 0/1 99 13 8 5 0.38 intronic rs212714 NLRC4 AD NM_021209 exon2 c.10928-121A>G 0.570887 0.4623 Uncertain 2_32466029_A->G 2 32466029 32466029 A G snp 690.77 0/1 99 70 42 28 0.4 intronic rs212721 NLRC4 AD NM_021209 exon5 c.16560-72A>G 0.599441 0.4653 Uncertain 2_32475109_G->A 2 32475109 32475109 G A snp 2880.77 0/1 99 250 133 117 0.47 exonic rs455060 NLRC4 AD synonymous SNV NM_021209 exon4 c.C1824T p.A608A 0.592252 0.4633 0.629709 0.5899 0.4421 Uncertain 2_32476390_T->G 2 32476390 32476390 T G snp 2052.77 0/1 99 151 69 82 0.54 exonic rs408813 NLRC4 AD synonymous SNV NM_021209 exon4 c.A543C p.R181R 0.515575 0.3562 0.587652 0.5527 0.3519 Uncertain 2_32481794_T->- 2 32481794 32481794 T - indel 550.73 0/1 99 59 40 19 0.32 intronic rs11295492 NLRC4 AD NM_021209 exon8 c.32302-49delT 0.511981 0.3552 0.585543 0.5465 0.3440 Uncertain 2_32481795_T->A 2 32481795 32481795 T A snp 442.77 0/1 99 59 40 19 0.32 intronic rs59966205 NLRC4 AD NM_021209 exon8 c.32302-48T>A 0.511981 0.3552 0.5466 0.3445 Uncertain 2_32667058_C->A 2 32667058 32667058 C A snp 1218.77 1/1 90 35 1 34 0.97 intronic rs55734616 BIRC6 AU NM_016252 exon18 c.84903-74C>A 1 1 Uncertain 2_32667061_T->A 2 32667061 32667061 T A snp 1285.77 1/1 93 37 1 36 0.97 intronic rs60955793 BIRC6 AU NM_016252 exon18 c.84903-71T>A 1 1 Uncertain 2_32667182_G->C 2 32667182 32667182 G C snp 5751.77 1/1 99 214 0 214 1.0 exonic rs60197615 BIRC6 AU nonsynonymous SNV NM_016252 exon18 c.G3994C p.V1332L 1 1 1 1 1 T 0.001 P -0.915 T 0.0 T 0.0 T Pathogenic 2_32667562_A->G 2 32667562 32667562 A G snp 1217.77 0/1 99 88 38 50 0.57 intronic rs2276592 BIRC6 AU NM_016252 exon19 c.85294+39A>G 0.308506 0.5635 0.198139 0.2975 0.5725 Uncertain 2_32688601_A->C 2 32688601 32688601 A C snp 119.77 0/1 99 7 3 4 0.57 intronic rs762019 BIRC6 AU NM_016252 exon24 c.106220+152A>C 0.431709 0.3621 Uncertain 2_32706579_T->A 2 32706579 32706579 T A snp 1611.77 1/1 99 49 0 49 1.0 intronic rs9646977 BIRC6 AU NM_016252 exon38 c.124292+58T>A 1 1 Uncertain 2_32707765_C->T 2 32707765 32707765 C T snp 332.77 0/1 99 16 6 10 0.63 intronic rs76163660 BIRC6 AU NM_016252 exon39 c.125421+115C>T 0.000199681 0.001 Uncertain 2_32712875_A->C 2 32712875 32712875 A C snp 3690.77 1/1 99 125 0 125 1.0 intronic rs2366891 BIRC6 AU NM_016252 exon41 c.130639+7A>C 1 1 1 1 Uncertain 2_32713706_A->T 2 32713706 32713706 A T snp 160.77 0/1 99 18 9 9 0.5 exonic rs2366894 BIRC6 AU nonsynonymous SNV NM_016252 exon42 c.A8020T p.T2674S 0.560903 0.3433 0.658698 0.5871 0.3503 1 T 0.0 P -0.916 T 0.0 T 0.0 T Pathogenic 2_32749880_C->T 2 32749880 32749880 C T snp 298.78 1/1 24 8 0 8 1.0 intronic rs2710609 BIRC6 AU NM_016252 exon58 c.167725-74C>T 1 1 Uncertain 2_32749890_C->T 2 32749890 32749890 C T snp 309.78 1/1 24 8 0 8 1.0 intronic rs2710610 BIRC6 AU NM_016252 exon58 c.167725-64C>T 1 1 Uncertain 2_32749893_A->T 2 32749893 32749893 A T snp 311.78 1/1 24 9 0 9 1.0 intronic rs2710611 BIRC6 AU NM_016252 exon58 c.167725-61A>T 1 1 Uncertain 2_32749903_T->C 2 32749903 32749903 T C snp 419.77 1/1 33 12 0 12 1.0 intronic rs2710612 BIRC6 AU NM_016252 exon58 c.167725-51T>C 1 1 Uncertain 2_32822729_A->G 2 32822729 32822729 A G snp 248.77 0/1 99 15 6 9 0.6 intronic rs2583713 BIRC6 AU NM_016252 exon69 c.240588-88A>G 0.303315 0.2976 Uncertain 2_32822957_G->A 2 32822957 32822957 G A snp 909.77 0/1 99 92 47 45 0.49 exonic rs2710625 BIRC6 AU synonymous SNV NM_016252 exon69 c.G13752A p.T4584T 0.332867 0.2956 0.387360 0.3792 0.2637 Uncertain 2_32855615_A->G 2 32855615 32855615 A G snp 572.77 1/1 42 22 0 22 1.0 exonic rs2710623 TTC27 AU synonymous SNV NM_017735 exon2 c.A114G p.L38L 0.987819 1 0.988771 0.9969 1 Uncertain 2_32860415_C->T 2 32860415 32860415 C T snp 3201.82 1/1 99 127 0 127 1.0 intronic rs11124286 TTC27 AU NM_001193509 exon3 c.3421+1343C>T 0.891174 0.881 0.9167 . Uncertain 2_32927863_G->A 2 32927863 32927863 G A snp 1911.77 0/1 99 195 108 87 0.45 intronic rs2273659 TTC27 AU NM_001193509 exon10 c.72222-10G>A 0.207268 0.2887 0.163309 0.2166 0.3073 Uncertain 2_32958839_TT->- 2 32958839 32958840 TT - indel 2207.73 1/1 99 41 0 41 1.0 intronic rs3830967 TTC27 AU NM_001193509 exon11 c.103243-55_103243-54delTT 0.204073 0.2996 Uncertain 2_32959075_G->A 2 32959075 32959075 G A snp 2182.77 1/1 99 72 0 72 1.0 intronic rs3818266 TTC27 AU NM_001193509 exon11 c.103339+85G>A 0.204673 0.2996 Uncertain 2_32961745_T->A 2 32961745 32961745 T A snp 2746.77 1/1 99 99 0 99 1.0 intronic rs10200333 TTC27 AU NM_001193509 exon12 c.106109-15T>A 0.990216 1 0.990389 0.9972 1 Uncertain 2_33036324_G->A 2 33036324 33036324 G A snp 1223.77 1/1 90 38 0 38 1.0 intronic rs3731578 TTC27 AU NM_001193509 exon17 c.180637+36G>A 0.452077 0.3532 0.413348 0.4543 0.4002 Uncertain 2_33045867_-->T 2 33045867 33045867 - T indel 2205.73 1/1 99 68 1 67 0.99 intronic rs138344718 TTC27 AU NM_001193509 exon20 c.190231-15insT 0.198682 0.252 0.2482 0.2716 Uncertain 2_33172679_G->A 2 33172679 33172679 G A snp 662.77 0/1 99 60 33 27 0.45 exonic rs143551592 LTBP1 AU synonymous SNV NM_206943 exon1 c.G288A p.Q96Q 0.145367 0.4206 0.128 0 Uncertain 2_33174050_C->T 2 33174050 33174050 C T snp 1178.77 0/1 99 77 29 48 0.62 intronic rs13029145 LTBP1 AU NM_206943 exon2 c.1621+38C>T 0.149561 0.4375 0.047132 0.1065 0.4439 Uncertain 2_33335508_C->G 2 33335508 33335508 C G snp 186.77 0/1 99 10 4 6 0.6 intronic rs11124306 LTBP1 AU NM_206943 exon4 c.163257-140C>G 0.459864 0.4732 Uncertain 2_33335847_C->T 2 33335847 33335847 C T snp 1214.77 0/1 99 121 72 49 0.4 intronic rs218226 LTBP1 AU NM_206943 exon4 c.163427+29C>T 0.392372 0.37 0.379594 0.4137 0.3710 Uncertain 2_33392911_G->A 2 33392911 33392911 G A snp 2130.77 0/1 99 211 116 95 0.45 intronic rs6728094 LTBP1 AU NM_001166266 exon2 c.52118-19011G>A 0.485823 0.3998 Uncertain 2_33407186_T->C 2 33407186 33407186 T C snp 852.77 0/1 99 57 29 28 0.49 intronic rs6759943 LTBP1 AU NM_001166266 exon2 c.52118-4736T>C 0.446086 0.3889 Uncertain 2_33407285_G->A 2 33407285 33407285 G A snp 3104.77 0/1 99 250 130 120 0.48 intronic rs2367619 LTBP1 AU NM_001166266 exon2 c.52118-4637G>A 0.446086 0.3889 Uncertain 2_33407502_G->A 2 33407502 33407502 G A snp 110.77 0/1 99 8 4 4 0.5 intronic rs2367620 LTBP1 AU NM_001166266 exon2 c.52118-4420G>A 0.447284 0.3909 Uncertain 2_33412077_G->A 2 33412077 33412077 G A snp 1400.77 0/1 99 98 39 59 0.6 exonic rs1065324 LTBP1 AU synonymous SNV NM_206943 exon6 c.G1356A p.A452A 0.367812 0.371 0.442719 0.4592 0.3930 Uncertain 2_33413640_G->T 2 33413640 33413640 G T snp 573.77 0/1 99 50 29 21 0.42 splicing rs6712473 LTBP1 AU NM_001166266 exon3 c.53839-3G>T 0.446685 0.3909 0.531293 0.4994 0.4226 Pathogenic 2_33413949_G->A 2 33413949 33413949 G A snp 459.77 0/1 99 35 17 18 0.51 intronic rs4542826 LTBP1 AU NM_001166266 exon3 c.54114+31G>A 0.495008 0.4038 0.568814 0.5418 0.4334 Uncertain 2_33414008_-->A 2 33414008 33414008 - A indel 141.94 1/1 13 15 2 13 0.87 intronic rs543321820 LTBP1 AU NM_001166266 exon3 c.54114+90insA 0.0061901 0.0298 Uncertain 2_33414009_T->A 2 33414009 33414009 T A snp 477.77 1/1 36 15 0 15 1.0 intronic rs3922572 LTBP1 AU NM_001166266 exon3 c.54114+91T>A 0.960863 1 Uncertain 2_33442549_G->A 2 33442549 33442549 G A snp 279.77 0/1 99 36 22 14 0.39 intronic rs2290449 LTBP1 AU NM_001166266 exon4 c.82814-69G>A 0.482827 0.3661 Uncertain 2_33442714_G->A 2 33442714 33442714 G A snp 1348.77 0/1 99 100 37 63 0.63 exonic LTBP1 AU synonymous SNV NM_206943 exon8 c.G1797A p.K599K Uncertain 2_33447023_G->A 2 33447023 33447023 G A snp 152.77 0/1 90 8 3 5 0.63 intronic rs7608535 LTBP1 AU NM_001166266 exon5 c.87342-123G>A 0.335064 0.3323 Uncertain 2_33447202_C->T 2 33447202 33447202 C T snp 3329.77 0/1 99 250 117 133 0.53 exonic rs2290448 LTBP1 AU synonymous SNV NM_206943 exon9 c.C1860T p.N620N 0.332668 0.3323 0.402353 0.4312 0.3452 Uncertain 2_33477964_C->T 2 33477964 33477964 C T snp 295.77 0/1 99 18 9 9 0.5 intronic rs3731575 LTBP1 AU NM_001166266 exon7 c.118107+53C>T 0.175319 0.2103 Uncertain 2_33488419_G->A 2 33488419 33488419 G A snp 1393.77 0/1 99 112 47 65 0.58 exonic rs12468099 LTBP1 AU synonymous SNV NM_206943 exon15 c.G2577A p.T859T 0.167532 0.2371 0.212671 0.2462 0.2546 Uncertain 2_33500848_A->G 2 33500848 33500848 A G snp 1973.77 0/1 99 181 92 89 0.49 intronic rs3816479 LTBP1 AU NM_001166266 exon14 c.141063-19A>G 0.183906 0.2431 0.238582 0.2705 0.2594 Uncertain 2_33525380_T->C 2 33525380 33525380 T C snp 178.77 0/1 99 14 8 6 0.43 intronic LTBP1 AU NM_001166266 exon17 c.165713-137T>C Uncertain 2_33525407_A->G 2 33525407 33525407 A G snp 491.77 0/1 99 28 12 16 0.57 intronic rs2123769 LTBP1 AU NM_001166266 exon17 c.165713-110A>G 0.176717 0.2381 Uncertain 2_33540138_G->A 2 33540138 33540138 G A snp 383.77 0/1 99 19 5 14 0.74 intronic rs2276591 LTBP1 AU NM_001166266 exon20 c.180406-72G>A 0.550319 0.496 Uncertain 2_33540248_G->A 2 33540248 33540248 G A snp 1421.77 0/1 99 124 66 58 0.47 exonic rs1058840 LTBP1 AU synonymous SNV NM_206943 exon24 c.G3642A p.P1214P 0.460264 0.3095 0.558127 0.6003 0.3349 1.000 P -0.975 T Likely benign 2_33572352_A->G 2 33572352 33572352 A G snp 329.77 0/1 99 34 20 14 0.41 intronic rs2290426 LTBP1 AU NM_001166266 exon21 c.212629-81A>G 0.0744808 0.1925 Uncertain 2_33585796_T->C 2 33585796 33585796 T C snp 5675.77 1/1 99 203 0 203 1.0 exonic rs4422143 LTBP1 AU nonsynonymous SNV NM_206943 exon27 c.T4133C p.V1378A 1 1 0.999923 0.9999 1 1 T 0.006 P -0.934 T 0.0 T 0.0 T Pathogenic 2_33614187_C->T 2 33614187 33614187 C T snp 589.77 0/1 99 33 11 22 0.67 intronic rs642472 LTBP1 AU NM_001166266 exon27 c.254446-63C>T 0.502596 0.6825 Uncertain 2_33622448_T->C 2 33622448 33622448 T C snp 693.77 1/1 51 22 0 22 1.0 intronic rs2367734 LTBP1 AU NM_001166266 exon28 c.262545+99T>C 0.626797 0.8601 Uncertain 2_33622475_T->C 2 33622475 33622475 T C snp 163.77 0/1 99 10 3 7 0.7 intronic rs12053346 LTBP1 AU NM_001166266 exon28 c.262545+126T>C 0.400559 0.6379 Uncertain 2_33623288_T->C 2 33623288 33623288 T C snp 404.77 0/1 99 21 9 12 0.57 intronic rs626121 LTBP1 AU NM_001166266 exon29 c.263626-142T>C 0.569888 0.6438 Uncertain 2_33623306_C->T 2 33623306 33623306 C T snp 595.77 0/1 99 39 19 20 0.51 intronic rs2034693 LTBP1 AU NM_001166266 exon29 c.263626-124C>T 0.482228 0.6181 Uncertain 2_33623387_A->G 2 33623387 33623387 A G snp 5095.77 1/1 99 178 0 178 1.0 intronic rs624060 LTBP1 AU NM_001166266 exon29 c.263626-43A>G 0.780751 0.749 0.787252 0.7747 0.7499 Uncertain 2_33623388_T->C 2 33623388 33623388 T C snp 5217.77 1/1 99 181 0 181 1.0 intronic rs624058 LTBP1 AU NM_001166266 exon29 c.263626-42T>C 0.780751 0.749 0.787406 0.7746 0.7502 Uncertain 2_33623720_A->G 2 33623720 33623720 A G snp 392.77 1/1 30 12 0 12 1.0 UTR3 rs8970 LTBP1 AU 0.305511 0.5169 Uncertain 2_33623734_A->G 2 33623734 33623734 A G snp 224.84 1/1 18 6 0 6 1.0 UTR3 rs622716 LTBP1 AU 0.775559 0.747 Uncertain 2_33745336_T->C 2 33745336 33745336 T C snp 133.03 1/1 12 4 0 4 1.0 intronic rs2305575 RASGRP3 AU NM_001139488 exon5 c.4878+255T>C 0.798522 0.753 Uncertain 2_33747285_G->A 2 33747285 33747285 G A snp 96.28 1/1 9 3 0 3 1.0 intronic rs2305573 RASGRP3 AU NM_001139488 exon7 c.6966+116G>A 0.825879 0.7907 Uncertain 2_33774761_T->C 2 33774761 33774761 T C snp 5184.77 1/1 99 188 0 188 1.0 exonic rs2276590 RASGRP3 AU synonymous SNV NM_001139488 exon14 c.T1485C p.H495H 0.134784 0.3095 0.041667 0.0567 0.3059 Uncertain 2_33780701_G->C 2 33780701 33780701 G C snp 2075.77 1/1 99 72 1 71 0.99 intronic rs57686411 RASGRP3 AU NM_001139488 exon15 c.40431+67G>C 0.132788 0.3313 0.035699 Uncertain 2_33787977_CTAA->- 2 33787977 33787980 CTAA - indel 3353.73 1/1 99 78 0 78 1.0 UTR3 rs10572554 RASGRP3 AU Uncertain 2_33824095_G->T 2 33824095 33824095 G T snp 197.77 0/1 99 12 5 7 0.58 intronic rs138290391 FAM98A AU NM_015475 exon8 c.14393-140G>T 0.00219649 0.0109 Uncertain 2_33952022_C->A 2 33952022 33952022 C A snp 133.77 0/1 99 10 5 5 0.5 ncRNA_exonic rs4670913 MYADML AU 0.851238 0.7421 Uncertain 2_33952060_G->T 2 33952060 33952060 G T snp 256.77 0/1 99 40 28 12 0.3 ncRNA_exonic rs147506887 MYADML AU 0.000798722 0.004 0.0006 0.0095 Uncertain 2_33952413_T->C 2 33952413 33952413 T C snp 2312.77 0/1 99 207 115 92 0.44 ncRNA_exonic rs4477896 MYADML AU 0.758387 0.7421 0.7946 0.7683 Uncertain 2_33952456_C->G 2 33952456 33952456 C G snp 6252.77 1/1 99 225 0 225 1.0 ncRNA_exonic rs2367810 MYADML AU 0.997005 1 0.9960 1 Uncertain 2_35696612_C->T 2 35696612 35696612 C T snp 410.77 1/1 30 19 0 19 1.0 intergenic rs4670472 LINC01320 AU 0.901158 0.8472 Uncertain 2_36605304_G->A 2 36605304 36605304 G A snp 338.78 1/1 27 9 0 9 1.0 intronic rs4670546 CRIM1 AU NM_016441 exon2 c.40321-18452G>A 0.473043 0.3135 Uncertain 2_36605585_A->G 2 36605585 36605585 A G snp 2298.77 1/1 99 76 0 76 1.0 intronic rs4670548 CRIM1 AU NM_016441 exon2 c.40321-18171A>G 0.854633 0.9891 Uncertain 2_36668395_T->A 2 36668395 36668395 T A snp 1525.77 0/1 99 131 69 62 0.47 splicing rs2276673 CRIM1 AU NM_016441 exon3 c.84965-5T>A 0.300319 0.5625 0.178687 0.2026 0.5515 Pathogenic 2_36669645_T->C 2 36669645 36669645 T C snp 249.77 0/1 99 37 24 13 0.35 intronic rs17018798 CRIM1 AU NM_016441 exon4 c.86322-112T>C 0.304113 0.5694 Uncertain 2_36669670_C->A 2 36669670 36669670 C A snp 276.77 0/1 99 49 33 16 0.33 intronic rs3821157 CRIM1 AU NM_016441 exon4 c.86322-87C>A 0.299521 0.5685 Uncertain 2_36691951_A->C 2 36691951 36691951 A C snp 393.77 1/1 30 10 0 10 1.0 intronic rs711252 CRIM1 AU NM_016441 exon5 c.108363+153A>C 0.680511 0.7153 Uncertain 2_36704144_C->T 2 36704144 36704144 C T snp 3200.06 1/1 99 120 0 120 1.0 exonic rs848547 CRIM1 AU synonymous SNV NM_016441 exon6 c.C1104T p.T368T 0.613618 0.6766 0.515762 0.5731 0.6913 Uncertain 2_36706511_G->C 2 36706511 36706511 G C snp 681.77 1/1 51 18 0 18 1.0 intronic rs711250 CRIM1 AU NM_016441 exon7 c.123204-128G>C 0.428514 0.6786 Uncertain 2_36739553_T->C 2 36739553 36739553 T C snp 1603.77 1/1 99 51 0 51 1.0 intronic rs848526 CRIM1 AU NM_016441 exon10 c.156102+16T>C 0.833866 0.9881 0.762571 0.8058 0.9837 Uncertain 2_36756288_T->C 2 36756288 36756288 T C snp 4797.77 1/1 99 179 0 179 1.0 intronic rs711247 CRIM1 AU NM_016441 exon13 c.166021+6832T>C 0.892572 0.9861 0.8261 0.9837 Uncertain 2_36775315_C->G 2 36775315 36775315 C G snp 972.77 1/1 72 29 0 29 1.0 intronic rs2270333 CRIM1 AU NM_016441 exon17 c.192232-352C>G 0.664936 0.746 Uncertain 2_36775411_TT->- 2 36775411 36775412 TT - indel 392.73 0/1 99 57 24 33 0.58 intronic rs70946932 CRIM1 AU NM_016441 exon17 c.192232-256_192232-255delTT Uncertain 2_36779144_T->G 2 36779144 36779144 T G snp 1361.77 1/1 96 51 0 51 1.0 downstream rs10180760 CRIM1 AU 0.444289 0.626 Uncertain 2_36781187_A->G 2 36781187 36781187 A G snp 212.84 1/1 18 6 0 6 1.0 intronic rs1533947 FEZ2 AU NM_005102 exon1 c.17+865A>G 0.430112 0.622 Uncertain 2_36781401_T->C 2 36781401 36781401 T C snp 1620.77 1/1 99 57 0 57 1.0 intronic rs1533946 FEZ2 AU NM_005102 exon1 c.17+1079T>C 0.44389 0.624 0.3596 0.625 Uncertain 2_36782886_G->A 2 36782886 36782886 G A snp 4361.77 1/1 99 146 0 146 1.0 exonic rs848642 FEZ2 AU nonsynonymous SNV NM_005102 exon7 c.C985T p.R329C 0.543331 0.7768 0.391593 0.4262 0.7601 0.18 T 0.978 P -1.027 T 0.911 T 0.462 D Pathogenic 2_36785459_T->C 2 36785459 36785459 T C snp 717.77 1/1 54 21 0 21 1.0 intronic rs17019091 FEZ2 AU NM_005102 exon3 c.5275-121T>C 0.124601 0.4306 Uncertain 2_36805676_A->G 2 36805676 36805676 A G snp 3450.77 1/1 99 115 1 114 0.99 intronic rs2075226 FEZ2 AU NM_005102 exon4 c.25434-63A>G 0.490016 0.6468 Uncertain 2_36806021_G->A 2 36806021 36806021 G A snp 3576.77 1/1 99 115 0 115 1.0 intronic rs2072534 FEZ2 AU NM_005102 exon4 c.25703+13G>A 0.472045 0.6468 0.407000 0.3881 0.6337 Uncertain 2_36806051_A->G 2 36806051 36806051 A G snp 2328.77 1/1 99 68 0 68 1.0 intronic rs2072533 FEZ2 AU NM_005102 exon4 c.25703+43A>G 0.475839 0.6478 0.410594 0.3889 0.6332 Uncertain 2_36808290_-->CAA 2 36808290 36808290 - CAA indel 282.8 1/1 18 6 0 6 1.0 intronic rs397780099 FEZ2 AU NM_005102 exon5 c.28127-142insCAA 0.142572 0.4554 Uncertain 2_36808350_C->T 2 36808350 36808350 C T snp 2052.77 1/1 99 63 0 63 1.0 intronic rs848638 FEZ2 AU NM_005102 exon5 c.28127-82C>T 0.574281 0.8661 Uncertain 2_36808732_T->G 2 36808732 36808732 T G snp 2540.77 1/1 99 93 0 93 1.0 intronic rs848637 FEZ2 AU NM_005102 exon5 c.28269+158T>G 0.827276 0.9851 Uncertain 2_36808905_T->C 2 36808905 36808905 T C snp 56.74 1/1 6 2 0 2 1.0 intronic rs3770788 FEZ2 AU NM_005102 exon5 c.28269+331T>C 0.43131 0.6458 Uncertain 2_36824956_-->C 2 36824956 36824956 - C indel 457.73 1/1 36 12 0 12 1.0 intronic rs397827274 FEZ2 AU NM_005102 exon8 c.44714-63insC 0.9998 0.999 Uncertain 2_36825137_G->A 2 36825137 36825137 G A snp 229.84 1/1 18 8 0 8 1.0 exonic rs1544655 FEZ2 AU nonsynonymous SNV NM_001042548 exon1 c.C149T p.P50L 0.869609 0.9881 0.8281 0.9928 1 T 1.000 P -0.992 T 0.0 T 0.0 T Pathogenic 2_36825170_T->C 2 36825170 36825170 T C snp 126.03 1/1 12 4 0 4 1.0 exonic rs2287104 FEZ2 AU nonsynonymous SNV NM_001042548 exon1 c.A116G p.E39G 0.858626 0.9881 0.8222 0.9923 0.48 T 0.000 P -1.038 T 0.0 T 0.0 T Pathogenic 2_36825330_-->G 2 36825330 36825330 - G indel 468.73 1/1 36 13 0 13 1.0 UTR5 rs11441122 FEZ2 AU 0.996406 1 0.994413 1 . Uncertain 2_36943338_C->G 2 36943338 36943338 C G snp 799.77 1/1 60 24 0 24 1.0 intronic rs4670597 VIT AU 0.915535 1 Uncertain 2_36943419_T->C 2 36943419 36943419 T C snp 2116.77 1/1 99 82 0 82 1.0 intronic rs4670598 VIT AU 0.914936 1 Uncertain 2_37000881_T->A 2 37000881 37000881 T A snp 232.77 0/1 99 13 5 8 0.62 intronic rs3770783 VIT AU NM_001177970 exon8 c.57420-52T>A 0.176717 0.252 Uncertain 2_37000915_C->A 2 37000915 37000915 C A snp 706.77 0/1 99 67 40 27 0.4 intronic rs3770782 VIT AU NM_001177970 exon8 c.57420-18C>A 0.103235 0.1855 0.048670 0.0480 0.1898 ID=COSN166065;OCCURENCE=1(breast) Uncertain 2_37001570_C->T 2 37001570 37001570 C T snp 1500.77 1/1 99 54 0 54 1.0 intronic rs974964 VIT AU NM_001177970 exon9 c.58631-574C>T 0.94369 1 Uncertain 2_37010574_G->A 2 37010574 37010574 G A snp 4155.77 1/1 99 156 0 156 1.0 intronic rs3821147 VIT AU NM_001177969 exon10 c.67032+29G>A 0.496605 0.7778 0.499308 0.6090 0.7673 Uncertain 2_37035934_A->G 2 37035934 37035934 A G snp 2743.77 0/1 99 249 148 101 0.41 exonic rs2072526 VIT AU nonsynonymous SNV NM_001177970 exon13 c.A1601G p.K534R 0.180312 0.245 0.105951 0.0900 0.2599 0.12 T 0.998 P -1.122 T 0.999 D 0.981 D Pathogenic 2_37076498_A->C 2 37076498 37076498 A C snp 2178.77 1/1 99 70 0 70 1.0 UTR3 rs62132520 STRN AU 0.190495 0.5407 Uncertain 2_37076594_T->C 2 37076594 37076594 T C snp 5799.77 1/1 99 211 0 211 1.0 UTR3 rs62132521 STRN AU 0.214657 0.5407 0.094879 0.1500 0.5345 Uncertain 2_37077015_C->A 2 37077015 37077015 C A snp 1279.77 1/1 93 34 0 34 1.0 intronic rs723674 STRN AU NM_003162 exon2 c.345+72C>A 0.937101 1 Uncertain 2_37078095_-->TT 2 37078095 37078095 - TT indel 462.73 1/1 28 20 1 19 0.95 intronic rs10668550 STRN AU NM_003162 exon3 c.1544-47insTT 0.3351 0.3845 Uncertain 2_37094945_A->G 2 37094945 37094945 A G snp 1489.77 1/1 99 56 0 56 1.0 intronic rs2540923 STRN AU NM_003162 exon7 c.18358-11A>G 0.907348 0.998 0.903588 0.9649 0.9995 Uncertain 2_37095139_G->C 2 37095139 37095139 G C snp 488.77 1/1 36 16 0 16 1.0 intronic rs6752845 STRN AU NM_003162 exon7 c.18406+135G>C 0.440096 0.5833 Uncertain 2_37096970_C->T 2 37096970 37096970 C T snp 221.84 1/1 18 7 0 7 1.0 intronic rs2160379 STRN AU NM_003162 exon8 c.20274+98C>T 0.808906 0.8492 Uncertain 2_37218074_C->T 2 37218074 37218074 C T snp 178.77 0/1 60 8 2 6 0.75 intronic rs536434258 HEATR5B AU NM_019024 exon3 c.9310+132C>T Uncertain 2_37230728_T->C 2 37230728 37230728 T C snp 3903.77 1/1 99 156 2 154 0.99 exonic rs1007823 HEATR5B AU synonymous SNV NM_019024 exon31 c.A5007G p.V1669V 0.180511 0.5278 0.058050 0.1300 0.4959 Uncertain 2_37241050_G->A 2 37241050 37241050 G A snp 4588.77 1/1 99 162 0 162 1.0 exonic rs17020125 HEATR5B AU synonymous SNV NM_019024 exon27 c.C4218T p.S1406S 0.260383 0.5288 0.148085 0.2357 0.4939 Uncertain 2_37248015_T->C 2 37248015 37248015 T C snp 1008.77 1/1 75 33 0 33 1.0 intronic rs17020136 HEATR5B AU NM_019024 exon12 c.39347+36T>C 0.263978 0.5377 0.142768 0.2769 0.5475 Uncertain 2_37255015_G->A 2 37255015 37255015 G A snp 1469.77 1/1 99 52 0 52 1.0 intronic rs2540998 HEATR5B AU NM_019024 exon13 c.46433-50G>A 0.669329 0.6885 0.633113 0.5879 0.6281 Uncertain 2_37255806_C->T 2 37255806 37255806 C T snp 2330.77 1/1 99 75 0 75 1.0 intronic rs17020143 HEATR5B AU NM_019024 exon14 c.47191-17C>T 0.175519 0.5188 0.057213 0.1294 0.4894 Uncertain 2_37259640_G->T 2 37259640 37259640 G T snp 133.03 1/1 12 5 0 5 1.0 intronic rs9309001 HEATR5B AU NM_019024 exon15 c.51139-131G>T 0.419529 0.6657 Uncertain 2_37302557_A->- 2 37302557 37302557 A - indel 1667.73 1/1 99 53 0 53 1.0 intronic rs34545380 HEATR5B AU NM_019024 exon32 c.93995-70delA 0.927915 1 Uncertain 2_37306343_G->A 2 37306343 37306343 G A snp 1431.77 1/1 99 60 0 60 1.0 exonic rs6743906 HEATR5B AU synonymous SNV NM_019024 exon3 c.C258T p.F86F 0.929313 1 0.923592 0.9795 1 Uncertain 2_37317869_C->T 2 37317869 37317869 C T snp 1831.77 1/1 99 71 0 71 1.0 splicing rs4670654 GPATCH11 AU NM_174931 exon4 c.6205+4C>T 0.928514 1 0.9763 1 Pathogenic 2_37318041_A->G 2 37318041 37318041 A G snp 48.74 1/1 6 3 0 3 1.0 intronic rs4670655 GPATCH11 AU NM_174931 exon4 c.6205+176A>G 0.622204 0.7589 Uncertain 2_37362495_T->C 2 37362495 37362495 T C snp 1431.77 1/1 99 45 0 45 1.0 intronic rs2307476 EIF2AK2 AU NM_002759 exon8 c.28211-131T>C 0.131789 0.5298 Uncertain 2_37365640_G->A 2 37365640 37365640 G A snp 2595.77 1/1 99 89 0 89 1.0 intronic rs2307484 EIF2AK2 AU NM_002759 exon11 c.31236-11G>A 0.11861 0.4891 0.002691 0.0548 0.4546 Uncertain 2_37373982_-->T 2 37373982 37373982 - T indel 5251.73 1/1 99 118 0 118 1.0 intronic rs2307475 EIF2AK2 AU NM_002759 exon14 c.39580-13insT 0.934904 1 0.932907 0.9817 1 Uncertain 2_37406644_A->G 2 37406644 37406644 A G snp 5300.77 1/1 99 196 0 196 1.0 exonic rs10182091 SULT6B1 AU synonymous SNV NM_001032377 exon4 c.T372C p.Y124Y 0.42492 0.8006 0.250500 0.3481 0.7694 Uncertain 2_37406680_C->G 2 37406680 37406680 C G snp 4614.77 1/1 99 170 0 170 1.0 exonic rs10205833 SULT6B1 AU nonsynonymous SNV NM_001032377 exon4 c.G336C p.L112F 0.42492 0.8016 0.249731 0.3480 0.7698 1 T 0.000 P -0.943 T 0.0 T 0.0 T Pathogenic 2_37406761_T->C 2 37406761 37406761 T C snp 2004.77 1/1 99 69 0 69 1.0 intronic rs4459710 SULT6B1 AU NM_001032377 exon4 c.11650+34T>C 0.426118 0.8006 0.250038 0.3474 0.7688 Uncertain 2_37406807_A->G 2 37406807 37406807 A G snp 766.77 1/1 57 22 0 22 1.0 intronic rs2111630 SULT6B1 AU NM_001032377 exon4 c.11650+80A>G 0.425919 0.7996 Uncertain 2_37406866_A->G 2 37406866 37406866 A G snp 182.9 1/1 15 5 0 5 1.0 intronic rs13401374 SULT6B1 AU NM_001032377 exon4 c.11650+139A>G 0.41254 0.8006 Uncertain 2_37410864_G->A 2 37410864 37410864 G A snp 56.74 1/1 6 2 0 2 1.0 intronic rs4670672 SULT6B1 AU NM_001032377 exon5 c.15580+207G>A 0.429712 0.8016 Uncertain 2_37415496_G->C 2 37415496 37415496 G C snp 1527.77 1/1 99 56 0 56 1.0 intronic rs11124566 SULT6B1 AU NM_001032377 exon7 c.20507-88G>C 0.671126 0.9087 Uncertain 2_37428743_C->T 2 37428743 37428743 C T snp 149.03 1/1 12 7 0 7 1.0 ncRNA_intronic rs2540973 CEBPZOS AU 0.820288 0.9583 0.6963 0.9733 Uncertain 2_37438993_G->A 2 37438993 37438993 G A snp 1697.77 0/1 99 159 87 72 0.45 exonic rs1137437 CEBPZ AU synonymous SNV NM_005760 exon12 c.C2793T p.S931S 0.319489 0.3462 0.361175 0.3805 0.4107 Uncertain 2_37456032_C->T 2 37456032 37456032 C T snp 2784.77 1/1 99 94 0 94 1.0 exonic rs2098386 CEBPZ AU nonsynonymous SNV NM_005760 exon2 c.G304A p.V102I 0.939896 1 0.879499 0.8788 0.9995 1 T 0.0 P -1.018 T 0.0 T 0.0 T Pathogenic 2_37458668_G->A 2 37458668 37458668 G A snp 3594.77 0/1 99 250 108 142 0.57 exonic rs3213746 CEBPZ AU nonsynonymous SNV NM_005760 exon1 c.C43T p.P15S 0.131789 0.3512 0.015454 0.0849 0.3411 0 D 0.020 P -0.680 T 0.987 D 0.755 D Pathogenic 2_37458711_G->A 2 37458711 37458711 G A snp 3058.77 0/1 99 250 132 118 0.47 UTR5 rs3213745 CEBPZ AU 0.293131 0.37 0.326157 0.3512 0.4267 Uncertain 2_37459208_C->T 2 37459208 37459208 C T snp 969.77 0/1 99 89 45 44 0.49 intronic rs17020344 NDUFAF7 AU NM_144736 exon2 c.400-40C>T 0.167532 0.3532 0.065508 0.1299 0.3407 Uncertain 2_37469695_G->A 2 37469695 37469695 G A snp 98.77 0/1 99 16 12 4 0.25 intronic rs538639588 NDUFAF7 AU NM_144736 exon6 c.10929-82G>A 0.000199681 0.001 Uncertain 2_37474386_G->A 2 37474386 37474386 G A snp 1263.77 0/1 99 123 60 63 0.51 intronic rs78879417 NDUFAF7 AU NM_144736 exon9 c.15750-212G>A 0.161941 0.3383 Uncertain 2_37480249_A->G 2 37480249 37480249 A G snp 612.77 0/1 99 34 16 18 0.53 UTR3 rs1056021 PRKD3 AU 0.278155 0.4107 Uncertain 2_37480585_G->C 2 37480585 37480585 G C snp 232.77 0/1 99 12 5 7 0.58 intronic PRKD3 AU NM_005813 exon1 c.174+92G>C Uncertain 2_37486527_A->G 2 37486527 37486527 A G snp 139.03 1/1 12 4 0 4 1.0 intronic rs2714470 PRKD3 AU NM_005813 exon4 c.6406-198A>G 0.815096 0.9643 Uncertain 2_37494591_A->G 2 37494591 37494591 A G snp 371.77 0/1 99 27 11 16 0.59 exonic rs2302650 PRKD3 AU synonymous SNV NM_005813 exon13 c.T1866C p.N622N 0.191294 0.2292 0.120655 0.1544 0.2129 1.0 P -1.084 T Likely benign 2_37499406_C->T 2 37499406 37499406 C T snp 259.77 0/1 99 27 15 12 0.44 intronic rs2160394 PRKD3 AU NM_005813 exon8 c.19203-116C>T 0.185104 0.2153 Uncertain 2_37505105_T->G 2 37505105 37505105 T G snp 1392.77 0/1 99 128 63 65 0.51 exonic rs10460527 PRKD3 AU synonymous SNV NM_005813 exon8 c.A1200C p.L400L 0.223243 0.3373 0.137167 0.1684 0.3336 Uncertain 2_37506939_A->G 2 37506939 37506939 A G snp 877.77 0/1 99 107 64 43 0.4 exonic rs3770761 PRKD3 AU synonymous SNV NM_005813 exon7 c.T1122C p.D374D 0.16274 0.3373 0.064739 0.1237 0.3309 Uncertain 2_37513586_A->G 2 37513586 37513586 A G snp 313.77 0/1 99 31 17 14 0.45 intronic rs2287091 PRKD3 AU NM_005813 exon14 c.33193+74A>G 0.163538 0.3413 Uncertain 2_37516481_T->C 2 37516481 37516481 T C snp 535.77 0/1 99 46 26 20 0.43 intronic rs2302649 PRKD3 AU NM_005813 exon15 c.36179-17T>C 0.233826 0.3393 0.147394 0.1717 0.3381 Uncertain 2_37543371_A->G 2 37543371 37543371 A G snp 3332.77 1/1 99 112 0 112 1.0 intronic rs6544066 PRKD3 AU NM_005813 exon18 c.63060-8A>G 0.441494 0.5585 0.302399 0.3598 0.5464 Uncertain 2_37571752_G->A 2 37571752 37571752 G A snp 345.78 1/1 27 12 0 12 1.0 upstream rs6761908 QPCT AU 1 1 Uncertain 2_37571853_G->A 2 37571853 37571853 G A snp 879.77 0/1 99 80 42 38 0.47 UTR5 rs758124901 QPCT AU 0.0002 0.0011 Uncertain 2_37571989_G->C 2 37571989 37571989 G C snp 1423.77 0/1 99 133 67 66 0.5 exonic QPCT AU nonsynonymous SNV NM_012413 exon1 c.G115C p.E39Q 0.36 T 0.542 D -1.014 T 0.019 T 0.008 T Pathogenic 2_37579937_C->T 2 37579937 37579937 C T snp 2636.77 0/1 99 249 127 122 0.49 exonic rs2230299 QPCT AU synonymous SNV NM_012413 exon2 c.C126T p.Y42Y 0.293331 0.3383 0.196678 0.1586 0.3315 Uncertain 2_37579971_C->T 2 37579971 37579971 C T snp 2875.77 0/1 99 250 126 124 0.5 exonic rs2255991 QPCT AU nonsynonymous SNV NM_012413 exon2 c.C160T p.R54W 0.13758 0.3383 0.023912 0.0842 0.3319 0.01 T 0.980 P -0.978 T 0.998 D 0.378 D Pathogenic 2_37586681_A->G 2 37586681 37586681 A G snp 948.77 0/1 99 76 37 39 0.51 intronic rs2302651 QPCT AU NM_012413 exon3 c.14848-41A>G 0.5002 0.4137 0.451246 0.3998 0.3921 Uncertain 2_37587040_C->A 2 37587040 37587040 C A snp 1142.77 0/1 99 103 53 50 0.49 intronic rs3815555 QPCT AU NM_012413 exon3 c.15127+39C>A 0.133387 0.3383 0.024527 0.0838 0.3355 Uncertain 2_37587132_C->T 2 37587132 37587132 C T snp 187.77 0/1 95 9 3 6 0.67 intronic rs4670196 QPCT AU NM_012413 exon3 c.15127+131C>T 0.134784 0.3413 Uncertain 2_37595525_A->G 2 37595525 37595525 A G snp 99.28 1/1 9 3 0 3 1.0 intronic rs3770748 QPCT AU NM_012413 exon4 c.22677+974A>G 0.279353 0.5288 Uncertain 2_37595604_C->T 2 37595604 37595604 C T snp 925.77 0/1 99 54 17 37 0.69 intronic rs3770747 QPCT AU NM_012413 exon4 c.22677+1053C>T 0.285743 0.498 Uncertain 2_37595696_A->C 2 37595696 37595696 A C snp 3489.77 1/1 99 136 0 136 1.0 intronic rs1468816 QPCT AU NM_012413 exon5 c.24953-1131A>C 0.596246 0.9375 Uncertain 2_37599337_C->G 2 37599337 37599337 C G snp 34.78 0/1 27 3 1 2 0.67 intronic rs7582749 QPCT AU NM_012413 exon6 c.27624-161C>G 0.217851 0.4266 Uncertain 2_37599688_A->G 2 37599688 37599688 A G snp 1203.77 0/1 99 75 35 40 0.53 intronic rs2287094 QPCT AU NM_012413 exon6 c.27741+73A>G 0.177117 0.4266 Uncertain 2_37599963_A->C 2 37599963 37599963 A C snp 1874.77 0/1 99 131 56 75 0.57 exonic rs4670696 QPCT AU nonsynonymous SNV NM_012413 exon7 c.A1079C p.H360P 0.134185 0.3839 0.024527 0.0991 0.3912 0.12 T 0.997 P -0.959 T 0.975 D 0.698 D Pathogenic 2_37599988_G->T 2 37599988 37599988 G T snp 1146.77 0/1 99 81 39 42 0.52 UTR3 rs4670697 QPCT AU 0.215455 0.4187 0.085807 0.1312 0.4078 Uncertain 2_38156445_T->C 2 38156445 38156445 T C snp 2381.77 0/1 99 199 84 115 0.58 exonic rs61743792 RMDN2 AU synonymous SNV NM_001170791 exon2 c.T25C p.L9L 0.0251597 0.1081 0.0105 0.1330 Uncertain 2_38178362_T->C 2 38178362 38178362 T C snp 763.77 0/1 99 56 24 32 0.57 ncRNA_intronic rs2197561 RMDN2-AS1 AU 0.393371 0.6587 0.280683 0.3259 0.6944 Uncertain 2_38179134_G->A 2 38179134 38179134 G A snp 7638.77 1/1 99 249 0 249 1.0 exonic rs4670800 RMDN2 AU nonsynonymous SNV NM_144713 exon2 c.G776A p.G259D 1 1 1 1 1 T 0.0 P -0.986 T 0.0 T 0.0 T Pathogenic 2_38202502_A->G 2 38202502 38202502 A G snp 507.77 0/1 99 45 25 20 0.44 ncRNA_intronic rs2044447 RMDN2-AS1 AU 0.392572 0.6329 0.285561 0.3191 0.6658 Uncertain 2_38208233_T->C 2 38208233 38208233 T C snp 682.77 1/1 51 21 0 21 1.0 ncRNA_intronic rs1446297 RMDN2-AS1 AU 0.539537 0.8234 Uncertain 2_38208606_A->T 2 38208606 38208606 A T snp 394.77 1/1 30 12 0 12 1.0 ncRNA_intronic rs61676428 RMDN2-AS1 AU 0.375 0.8165 Uncertain 2_38216478_T->C 2 38216478 38216478 T C snp 50.74 1/1 6 2 0 2 1.0 ncRNA_intronic rs6736956 RMDN2-AS1 AU 0.545727 0.8115 Uncertain 2_38218281_T->C 2 38218281 38218281 T C snp 419.77 0/1 99 34 16 18 0.53 ncRNA_intronic rs17021813 RMDN2-AS1 AU 0.223842 0.6161 Uncertain 2_38218471_A->- 2 38218471 38218471 A - indel 139.73 0/1 99 13 8 5 0.38 ncRNA_intronic rs11356296 RMDN2-AS1 AU 0.148762 0.1875 0.124319 0.0890 0.1326 Uncertain 2_38224485_C->T 2 38224485 38224485 C T snp 552.77 0/1 99 30 8 22 0.73 ncRNA_intronic rs545965294 RMDN2-AS1 AU 0.000199681 0.001 Uncertain 2_38244818_A->C 2 38244818 38244818 A C snp 410.77 0/1 99 66 43 23 0.35 ncRNA_intronic rs11901988 RMDN2-AS1 AU 0.410144 0.5536 Uncertain 2_38244824_G->A 2 38244824 38244824 G A snp 393.77 0/1 99 64 42 22 0.34 ncRNA_intronic rs11891536 RMDN2-AS1 AU 0.404553 0.5536 Uncertain 2_38244826_A->G 2 38244826 38244826 A G snp 901.77 0/1 99 61 21 40 0.66 ncRNA_intronic rs77762745 RMDN2-AS1 AU 0.113618 0.1369 Uncertain 2_38298150_A->G 2 38298150 38298150 A G snp 4395.77 1/1 99 149 0 149 1.0 exonic rs1056837 CYP1B1 AR,AU synonymous SNV NM_000104 exon3 c.T1347C p.D449D 0.620208 0.9087 0.453714 0.6220 0.8991 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000153125.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 2_38298203_C->G 2 38298203 38298203 C G snp 3620.77 1/1 99 127 0 127 1.0 exonic rs1056836 CYP1B1 AR,AU nonsynonymous SNV NM_000104 exon3 c.G1294C p.V432L 0.614816 0.9087 0.445564 0.6195 0.8970 0.31 T 0.0 P -0.849 T 0.001 T 0.006 T CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000153126.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 ID=CM004465;DIS=Prostate cancer, association with;TAG=DFP;PUB=15330195 DFP Pathogenic 2_38302177_C->A 2 38302177 38302177 C A snp 2522.77 0/1 99 223 108 115 0.52 exonic rs1056827 CYP1B1 AR,AU nonsynonymous SNV NM_000104 exon2 c.G355T p.A119S 0.36242 0.1796 0.336529 0.4120 0.2749 0.05 T 0.0 P -0.933 T 0.0 T 0.0 T CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000078127.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 ID=CM003809;DIS=Breast or lung cancer, association with;TAG=DP;PUB=10739169 DP Pathogenic 2_38302390_G->C 2 38302390 38302390 G C snp 896.77 0/1 99 74 37 37 0.5 exonic rs10012 CYP1B1 AR,AU nonsynonymous SNV NM_000104 exon2 c.C142G p.R48G 0.3748 0.1815 0.349853 0.3777 0.2326 0.28 T 0.0 P -0.987 T 0.0 T 0.0 T CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000078125.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 ID=CM004824;DIS=Higher catalytic activity;TAG=DFP;PUB=10910054 DFP Pathogenic 2_38302544_G->A 2 38302544 38302544 G A snp 460.77 0/1 99 31 13 18 0.58 intronic rs2617266 CYP1B1 AR,AU NM_000104 exon2 c.4668+12G>A 0.294129 0.1806 0.267728 0.2993 0.1847 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000153129.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 2_38526547_G->A 2 38526547 38526547 G A snp 154.77 0/1 99 18 10 8 0.44 intronic rs3765052 ATL2 AU NM_022374 exon3 c.2845+78G>A 0.304313 0.1161 Uncertain 2_38536626_T->G 2 38536626 38536626 T G snp 698.77 0/1 99 63 29 34 0.54 exonic rs2305243 ATL2 AU synonymous SNV NM_001135673 exon9 c.A966C p.R322R 0.327476 0.1925 0.330002 0.3623 0.1839 1.000 P -0.922 T Likely benign 2_38537626_A->C 2 38537626 38537626 A C snp 736.77 0/1 99 43 16 27 0.63 intronic rs2305245 ATL2 AU NM_022374 exon6 c.13965+37A>C 0.490615 0.1925 0.511226 0.4329 0.1865 Uncertain 2_38541581_-->TAT 2 38541581 38541581 - TAT indel 281.73 0/1 99 15 9 6 0.4 intronic rs34993801 ATL2 AU NM_022374 exon8 c.18125-168insTAT 0.446086 0.1944 Uncertain 2_38542573_T->C 2 38542573 38542573 T C snp 597.77 0/1 99 41 20 21 0.51 intronic rs12712583 ATL2 AU NM_022374 exon9 c.18852+97T>C 0.490016 0.1944 Uncertain 2_38545766_T->C 2 38545766 38545766 T C snp 1487.77 0/1 99 124 59 65 0.52 exonic ATL2 AU nonsynonymous SNV NM_001135673 exon4 c.A514G p.M172V 0.06 T 1.000 D -0.503 T 0.227 T 0.181 T Pathogenic 2_38545822_C->G 2 38545822 38545822 C G snp 507.77 0/1 99 39 21 18 0.46 intronic rs147938423 ATL2 AU NM_022374 exon10 c.22157+41C>G 0.00938498 0.0417 0.0027 0.0329 Uncertain 2_38604351_A->G 2 38604351 38604351 A G snp 1105.77 0/1 99 111 56 55 0.5 exonic rs3731847 ATL2 AU nonsynonymous SNV NM_001135673 exon1 c.T52C p.W18R 0.49361 0.1974 0.507163 0.4616 0.2168 0.44 T 1.000 P -0.965 T 0.0 T 0.0 T Pathogenic 2_38916906_T->C 2 38916906 38916906 T C snp 1309.77 0/1 99 103 45 58 0.56 intronic rs11687518 GALM AU NM_138801 exon4 c.23651-48T>C 0.202276 0.1875 0.244656 0.2877 0.1576 Uncertain 2_38956947_A->G 2 38956947 38956947 A G snp 1223.77 0/1 99 93 49 44 0.47 intronic rs2272445 GALM AU NM_138801 exon5 c.63536+108A>G 0.611022 0.7976 Uncertain 2_38977371_C->T 2 38977371 38977371 C T snp 1308.77 0/1 99 137 79 58 0.42 intronic rs3112183 SRSF7 AU NM_001195446 exon6 c.5062+35C>T 0.664537 0.8839 0.611641 0.6889 0.8835 Uncertain 2_38977402_T->C 2 38977402 38977402 T C snp 718.77 0/1 99 88 55 33 0.38 intronic rs3134630 SRSF7 AU NM_001195446 exon6 c.5062+66T>C 0.666334 0.8849 Uncertain 2_39006603_T->G 2 39006603 39006603 T G snp 907.77 1/1 66 33 0 33 1.0 intronic rs3112201 GEMIN6 AU NM_024775 exon2 c.128+343T>G 0.905351 1 0.9612 1 Uncertain 2_39025555_G->A 2 39025555 39025555 G A snp 2827.77 0/1 99 237 119 118 0.5 exonic rs1530853 DHX57 AU synonymous SNV NM_198963 exon24 c.C4047T p.C1349C 0.588059 0.7857 0.541212 0.6230 0.8203 1.000 P Uncertain 2_39025632_A->G 2 39025632 39025632 A G snp 1313.77 0/1 99 106 54 52 0.49 intronic rs1530852 DHX57 AU NM_198963 exon1 c.144+48A>G 0.589058 0.7867 0.539674 0.6234 0.8225 Uncertain 2_39030074_C->T 2 39030074 39030074 C T snp 835.77 0/1 99 71 35 36 0.51 intronic rs13029406 DHX57 AU NM_198963 exon2 c.4617+17C>T 0.580871 0.7857 0.533369 0.6154 0.8209 Uncertain 2_39033590_T->C 2 39033590 39033590 T C snp 1444.77 0/1 99 82 35 47 0.57 intronic rs3099968 DHX57 AU NM_198963 exon3 c.8260-110T>C 0.205871 0.1181 Uncertain 2_39040845_G->A 2 39040845 39040845 G A snp 747.77 0/1 99 48 24 24 0.5 intronic rs7419838 DHX57 AU NM_198963 exon4 c.15522-117G>A 0.295727 0.1885 Uncertain 2_39042496_C->T 2 39042496 39042496 C T snp 225.77 0/1 99 13 6 7 0.54 intronic rs10865144 DHX57 AU NM_198963 exon5 c.17222-166C>T 0.581669 0.7946 Uncertain 2_39042639_G->A 2 39042639 39042639 G A snp 5974.77 1/1 99 218 0 218 1.0 intronic rs3112138 DHX57 AU NM_198963 exon5 c.17222-23G>A 0.903554 0.9861 0.910195 0.9674 0.9949 Uncertain 2_39045885_C->T 2 39045885 39045885 C T snp 332.77 0/1 99 16 6 10 0.63 intronic rs10176932 DHX57 AU NM_198963 exon6 c.20578-133C>T 0.526757 0.7768 Uncertain 2_39050019_G->T 2 39050019 39050019 G T snp 546.77 1/1 42 17 0 17 1.0 intronic rs3112146 DHX57 AU NM_198963 exon8 c.24694-115G>T 0.914137 1 Uncertain 2_39050062_T->- 2 39050062 39050062 T - indel 1781.73 1/1 99 45 0 45 1.0 intronic rs34582261 DHX57 AU NM_198963 exon8 c.24694-72delT 0.909345 1 Uncertain 2_39050141_A->C 2 39050141 39050141 A C snp 1014.77 0/1 99 131 87 44 0.34 exonic rs3770681 DHX57 AU synonymous SNV NM_198963 exon17 c.T3285G p.S1095S 0.599241 0.8046 0.556512 0.6356 0.8340 0.02 T 1.0 P -1.066 T Likely benign 2_39055262_A->T 2 39055262 39055262 A T snp 188.77 0/1 54 9 2 7 0.78 intronic rs3099984 DHX57 AU NM_198963 exon11 c.30041-219A>T 0.318091 0.1954 Uncertain 2_39065729_C->A 2 39065729 39065729 C A snp 555.77 0/1 99 33 14 19 0.58 intronic rs17494315 DHX57 AU NM_198963 exon12 c.39649+640C>A 0.610224 0.7966 Uncertain 2_39075356_A->C 2 39075356 39075356 A C snp 154.77 0/1 99 11 4 7 0.64 intronic rs11124651 DHX57 AU NM_198963 exon15 c.49970-54A>C 0.594449 0.8095 Uncertain 2_39082344_T->C 2 39082344 39082344 T C snp 2375.77 0/1 99 211 112 99 0.47 exonic rs7598922 DHX57 AU nonsynonymous SNV NM_198963 exon8 c.A1760G p.N587S 0.589058 0.8026 0.535907 0.6221 0.8340 0.68 T 0.002 P -1.097 T 0.002 T 0.006 T Pathogenic 2_39084292_A->G 2 39084292 39084292 A G snp 229.77 0/1 99 22 11 11 0.5 intronic rs1131752 DHX57 AU NM_198963 exon18 c.58163+689A>G 0.186701 0.1845 Uncertain 2_39090696_T->C 2 39090696 39090696 T C snp 4121.77 1/1 99 130 0 130 1.0 intronic rs3099999 DHX57 AU NM_198963 exon22 c.65221+35T>C 0.989417 1 0.990620 0.9972 0.9999 Uncertain 2_39108773_A->G 2 39108773 39108773 A G snp 146.77 0/1 99 8 3 5 0.63 intronic rs3099948 MORN2 AU NM_001145450 exon4 c.137+54A>G 0.191893 0.1647 Uncertain 2_39117117_G->A 2 39117117 39117117 G A snp 1291.77 0/1 99 113 59 54 0.48 intergenic rs7565111 MORN2 AU 0.625 0.8651 0.6453 0.8704 Uncertain 2_39117285_T->G 2 39117285 39117285 T G snp 203.77 0/1 99 23 14 9 0.39 intergenic rs3112175 MORN2 AU 0.248602 0.123 Uncertain 2_39162786_T->- 2 39162786 39162786 T - indel 237.73 0/1 99 32 21 11 0.34 intronic rs397873872 ARHGEF33 AU NM_001145451 exon6 c.16327-129delT 0.238419 0.1131 Uncertain 2_39163209_T->C 2 39163209 39163209 T C snp 34.77 0/1 63 7 5 2 0.29 intronic rs390008 ARHGEF33 AU NM_001145451 exon6 c.16387+234T>C 0.433107 0.2173 Uncertain 2_39185048_C->T 2 39185048 39185048 C T snp 1555.77 1/1 99 53 0 53 1.0 intronic rs422854 ARHGEF33 AU NM_001145451 exon13 c.38586-126C>T 0.891773 0.8313 Uncertain 2_39187190_T->C 2 39187190 39187190 T C snp 3686.77 1/1 99 131 0 131 1.0 exonic rs6755527 ARHGEF33 AU nonsynonymous SNV NM_001145451 exon14 c.T1744C p.S582P 0.916933 0.8671 0.944054 0.8917 0.8623 1 T 0.000 P -0.956 T 0.0 T 0.0 T Pathogenic 2_39187519_A->G 2 39187519 39187519 A G snp 1282.77 1/1 93 43 0 43 1.0 exonic rs958412 ARHGEF33 AU synonymous SNV NM_001145451 exon14 c.A2073G p.K691K 0.90016 0.8403 0.8599 0.8028 Uncertain 2_39198966_A->G 2 39198966 39198966 A G snp 2788.77 1/1 99 93 0 93 1.0 intronic rs2305516 ARHGEF33 AU NM_001145451 exon16 c.54266-1888A>G 0.899161 0.8323 0.939991 0.8985 0.8055 Uncertain 2_39199271_T->C 2 39199271 39199271 T C snp 746.77 1/1 60 22 0 22 1.0 intronic rs4670901 ARHGEF33 AU NM_001145451 exon16 c.54266-1583T>C 0.905551 0.8333 Uncertain 2_39201077_A->C 2 39201077 39201077 A C snp 227.77 0/1 99 13 6 7 0.54 UTR3 ARHGEF33 AU Uncertain 2_39214821_A->C 2 39214821 39214821 A C snp 294.78 1/1 24 9 0 9 1.0 intronic rs2290445 SOS1 AD NM_005633 exon2 c.1768+89A>C 0.902356 0.8423 Uncertain 2_39224351_G->T 2 39224351 39224351 G T snp 1800.77 1/1 99 54 0 54 1.0 intronic rs1454223 SOS1 AD NM_005633 exon6 c.11429-42G>T 0.90016 0.8393 0.946002 0.9188 0.8246 Uncertain 2_39224615_-->T 2 39224615 39224615 - T indel 935.73 1/1 90 37 0 37 1.0 intronic rs397772226 SOS1 AD NM_005633 exon6 c.11602+49insT 0.787939 0.8244 0.830213 0.8855 0.8173 Uncertain 2_39233500_G->A 2 39233500 39233500 G A snp 608.77 1/1 45 22 1 21 0.95 intronic rs7577088 SOS1 AD NM_005633 exon7 c.20588-52G>A 0.905152 0.8403 CLINSIG=non-pathogenic;CLNDBN=Noonan's_syndrome;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000156994.1;CLNDSDB=GeneReviews:MedGen:SNOMED_CT;CLNDSDBID=NBK1124:C0028326:205824006 Uncertain 2_39251375_-->CAC 2 39251375 39251375 - CAC indel 319.8 1/1 18 6 0 6 1.0 intronic rs10634554 SOS1 AD NM_005633 exon15 c.38314+97insCAC 0.894369 0.8413 Uncertain 2_39262068_C->T 2 39262068 39262068 C T snp 2468.77 1/1 99 79 0 79 1.0 intronic rs10153761 SOS1 AD NM_005633 exon16 c.49388-284C>T 0.899561 0.8403 Uncertain 2_39281730_G->C 2 39281730 39281730 G C snp 525.77 1/1 39 15 0 15 1.0 intronic rs997344 SOS1 AD NM_005633 exon19 c.68790-24G>C 0.891374 0.8393 0.937346 0.9014 0.8300 CLINSIG=non-pathogenic;CLNDBN=Noonan's_syndrome;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000157031.1;CLNDSDB=GeneReviews:MedGen:SNOMED_CT;CLNDSDBID=NBK1124:C0028326:205824006 Uncertain 2_39406572_C->A 2 39406572 39406572 C A snp 1812.77 1/1 99 58 0 58 1.0 intronic rs7566123 CDKL4 AU NM_001009565 exon1 c.156+110C>A 0.841653 0.879 Uncertain 2_39440727_G->C 2 39440727 39440727 G C snp 1108.77 1/1 81 41 0 41 1.0 intronic rs10196407 CDKL4 AU NM_001009565 exon6 c.34307+114G>C 0.635383 0.8016 Uncertain 2_39452861_C->T 2 39452861 39452861 C T snp 1201.77 1/1 87 42 0 42 1.0 intronic rs11124663 CDKL4 AU NM_001009565 exon7 c.46673-118C>T 0.666933 0.8522 Uncertain 2_39479122_G->C 2 39479122 39479122 G C snp 126.03 1/1 12 4 0 4 1.0 intronic rs3770678 MAP4K3 AU NM_003618 exon2 c.1268+96G>C 0.851038 0.8859 Uncertain 2_39494197_C->T 2 39494197 39494197 C T snp 1594.77 1/1 99 46 0 46 1.0 intronic rs2302749 MAP4K3 AU NM_003618 exon8 c.16571-132C>T 0.627196 0.7887 Uncertain 2_39494469_C->G 2 39494469 39494469 C G snp 337.78 1/1 27 9 0 9 1.0 intronic rs10865149 MAP4K3 AU NM_003618 exon8 c.16630+81C>G 0.849042 0.8839 Uncertain 2_39507417_T->A 2 39507417 39507417 T A snp 1495.77 1/1 99 64 0 64 1.0 exonic rs3755176 MAP4K3 AU synonymous SNV NM_001270425 exon22 c.A1647T p.T549T 0.627196 0.7966 0.665821 0.7717 0.8097 Uncertain 2_39514136_T->C 2 39514136 39514136 T C snp 834.77 1/1 60 30 0 30 1.0 intronic rs3755172 MAP4K3 AU NM_003618 exon14 c.36347+31T>C 0.627596 0.7956 0.668308 0.7789 0.8128 Uncertain 2_39514204_G->C 2 39514204 39514204 G C snp 99.28 1/1 9 3 0 3 1.0 intronic rs3755171 MAP4K3 AU NM_003618 exon14 c.36347+99G>C 0.625399 0.7946 Uncertain 2_39519718_T->C 2 39519718 39519718 T C snp 50.74 1/1 6 2 0 2 1.0 intronic rs11124672 MAP4K3 AU NM_003618 exon17 c.42155-195T>C 0.662141 0.8522 Uncertain 2_39526842_A->C 2 39526842 39526842 A C snp 685.77 1/1 51 25 0 25 1.0 intronic rs2111382 MAP4K3 AU NM_003618 exon19 c.49125-41A>C 0.947484 1 0.956437 0.9877 1 Uncertain 2_39542659_T->- 2 39542659 39542659 T - indel 317.73 1/1 41 20 0 20 1.0 intronic rs397984357 MAP4K3 AU NM_003618 exon22 c.64771+130delT 0.485823 0.5079 Uncertain 2_39553271_A->G 2 39553271 39553271 A G snp 4178.77 1/1 99 145 0 145 1.0 intronic rs3815594 MAP4K3 AU NM_003618 exon26 c.75528-15A>G 0.775559 0.8512 0.826542 0.8479 0.8532 Uncertain 2_39558928_G->A 2 39558928 39558928 G A snp 99.28 1/1 9 3 0 3 1.0 intronic rs6760382 MAP4K3 AU NM_003618 exon27 c.81299-129G>A 0.844449 0.874 Uncertain 2_39564620_C->A 2 39564620 39564620 C A snp 1265.77 1/1 90 48 0 48 1.0 intronic rs1125839 MAP4K3 AU NM_003618 exon30 c.86908-46C>A 0.848842 0.8849 0.888453 0.8834 0.8876 Uncertain 2_39570427_T->C 2 39570427 39570427 T C snp 866.77 1/1 63 26 0 26 1.0 intronic rs3732053 MAP4K3 AU NM_003618 exon31 c.92770-101T>C 0.692891 0.8433 Uncertain 2_39583446_A->G 2 39583446 39583446 A G snp 2512.77 1/1 99 102 0 102 1.0 exonic rs8545 MAP4K3 AU synonymous SNV NM_001270425 exon3 c.T189C p.I63I 0.692093 0.8472 0.734000 0.8230 0.8526 Uncertain 2_39944055_G->A 2 39944055 39944055 G A snp 683.77 1/1 51 22 0 22 1.0 intronic rs2540229 TMEM178A AU NM_001167959 exon4 c.9929-94G>A 0.682708 0.8115 Uncertain 2_39993167_T->C 2 39993167 39993167 T C snp 1018.77 0/1 99 96 47 49 0.51 intronic rs4670959 THUMPD2 AU NM_025264 exon6 c.29322-29T>C 0.467053 0.7282 0.374250 0.4902 0.7567 Uncertain 2_39995908_A->G 2 39995908 39995908 A G snp 120.03 1/1 12 4 0 4 1.0 intronic rs13400213 THUMPD2 AU NM_025264 exon7 c.31767+267A>G 0.492412 0.8046 Uncertain 2_39996457_C->T 2 39996457 39996457 C T snp 99.28 1/1 9 3 0 3 1.0 intronic rs13428837 THUMPD2 AU NM_025264 exon8 c.32975-392C>T 0.499201 0.8016 Uncertain 2_40006430_A->C 2 40006430 40006430 A C snp 233.77 0/1 99 16 7 9 0.56 upstream rs12620957 THUMPD2 AU 0.57508 0.7282 Uncertain 2_40006442_C->T 2 40006442 40006442 C T snp 192.77 0/1 84 10 3 7 0.7 upstream rs35761077 THUMPD2 AU 0.474441 0.7282 Uncertain 2_40392313_G->C 2 40392313 40392313 G C snp 1108.77 1/1 81 34 0 34 1.0 ncRNA_intronic rs434725 SLC8A1-AS1 AU 0.918131 0.8214 Uncertain 2_40402275_G->A 2 40402275 40402275 G A snp 56.77 0/1 85 18 15 3 0.17 ncRNA_intronic rs6734847 SLC8A1-AS1 AU 0.513179 0.1984 Uncertain 2_40403104_A->G 2 40403104 40403104 A G snp 909.77 0/1 99 82 40 42 0.51 ncRNA_intronic rs106706 SLC8A1-AS1 AU 0.594848 0.3651 0.7014 0.4227 Uncertain 2_40404839_C->T 2 40404839 40404839 C T snp 1263.77 0/1 99 113 62 51 0.45 ncRNA_intronic rs433572 SLC8A1-AS1 AU 0.497005 0.3373 Uncertain 2_40405427_G->T 2 40405427 40405427 G T snp 115.77 0/1 99 14 8 6 0.43 ncRNA_intronic rs17025449 SLC8A1-AS1 AU 0.0207668 0.0407 Uncertain 2_40564500_G->A 2 40564500 40564500 G A snp 894.77 0/1 99 93 49 44 0.47 intronic rs13406526 SLC8A1 AU NM_021097 exon10 c.313220-91112G>A 0.147963 0.0962 0.0662 0.1591 Uncertain 2_40564557_G->C 2 40564557 40564557 G C snp 789.77 0/1 99 94 54 40 0.43 intronic rs13406541 SLC8A1 AU NM_021097 exon10 c.313220-91055G>C 0.175919 0.0972 Uncertain 2_40655858_G->A 2 40655858 40655858 G A snp 2758.77 0/1 99 224 116 108 0.48 exonic rs199581012 SLC8A1 AU synonymous SNV NM_021097 exon1 c.C1563T p.L521L 0.000399361 0.002 0.000077 0.0003 0.0029 ID=COSM235399;OCCURENCE=1(skin) Uncertain 2_42275664_T->C 2 42275664 42275664 T C snp 104.77 0/1 99 14 9 5 0.36 exonic rs187184761 PKDCC AU nonsynonymous SNV NM_138370 exon1 c.T325C p.S109P 0.205471 0.4107 0 . 0.5 T 0.000 P -0.900 T 0.0 T 0.0 T Pathogenic 2_42275819_T->C 2 42275819 42275819 T C snp 2592.77 0/1 99 208 90 118 0.57 exonic rs11897440 PKDCC AU synonymous SNV NM_138370 exon1 c.T480C p.G160G 0.598642 0.505 0.529730 0.5276 0.5697 Uncertain 2_42282493_C->T 2 42282493 42282493 C T snp 1660.77 0/1 99 134 60 74 0.55 exonic rs55771746 PKDCC AU synonymous SNV NM_138370 exon5 c.C1182T p.S394S 0.00279553 0.0139 0.0014 0.0196 Uncertain 2_42488198_A->G 2 42488198 42488198 A G snp 416.77 1/1 33 12 0 12 1.0 intronic rs2302345 EML4 AU NM_019063 exon4 c.91509-62A>G 0.269768 0.5813 Uncertain 2_42491751_C->T 2 42491751 42491751 C T snp 310.78 1/1 24 11 0 11 1.0 intronic rs35132936 EML4 AU NM_001145076 exon5 c.95094-94C>T 0.245807 0.5784 Uncertain 2_42491833_A->C 2 42491833 42491833 A C snp 304.77 0/1 99 30 15 15 0.5 intronic EML4 AU NM_001145076 exon5 c.95094-12A>C 1.467e-05 0.0002 Uncertain 2_42492191_A->C 2 42492191 42492191 A C snp 1138.77 1/1 84 46 0 46 1.0 intronic rs13016514 EML4 AU NM_001145076 exon5 c.95120+320A>C 0.246006 0.5784 Uncertain 2_42492193_A->C 2 42492193 42492193 A C snp 491.77 0/1 99 46 22 24 0.52 intronic rs77753465 EML4 AU NM_001145076 exon5 c.95120+322A>C 0.0305511 0.1488 Uncertain 2_42510018_A->G 2 42510018 42510018 A G snp 4902.77 1/1 99 182 0 182 1.0 exonic rs6736913 EML4 AU nonsynonymous SNV NM_001145076 exon7 c.A673G p.K225E 0.996206 1 0.987621 0.9905 0.9999 1 T 1.0 P -0.926 T 0.0 T 0.001 T Pathogenic 2_42511903_A->G 2 42511903 42511903 A G snp 2812.77 1/1 99 103 0 103 1.0 intronic rs6744779 EML4 AU NM_001145076 exon8 c.115092+60A>G 0.287141 0.5813 0.268068 Uncertain 2_42513659_C->G 2 42513659 42513659 C G snp 50.74 1/1 6 2 0 2 1.0 intronic rs3732195 EML4 AU NM_001145076 exon9 c.116768+140C>G 0.587061 0.7312 Uncertain 2_42515388_A->G 2 42515388 42515388 A G snp 941.77 1/1 66 39 0 39 1.0 exonic rs10202624 EML4 AU nonsynonymous SNV NM_001145076 exon10 c.A970G p.I324V 0.853634 0.8036 0.917333 0.8564 0.8034 1 T 1.0 P -0.938 T 0.0 T 0.0 T Pathogenic 2_42515437_A->G 2 42515437 42515437 A G snp 1163.77 1/1 84 45 0 45 1.0 exonic rs28651764 EML4 AU nonsynonymous SNV NM_001145076 exon10 c.A1019G p.K340R 0.272564 0.5784 0.262494 0.2875 0.5746 0.43 T 1.000 P -0.903 T 0.003 T 0.009 T Pathogenic 2_42522756_A->G 2 42522756 42522756 A G snp 344.78 1/1 27 13 0 13 1.0 intronic rs10490555 EML4 AU NM_001145076 exon12 c.125905+100A>G 0.24381 0.5764 Uncertain 2_42531871_G->T 2 42531871 42531871 G T snp 216.84 1/1 18 7 0 7 1.0 intronic rs12464702 EML4 AU NM_001145076 exon16 c.134940+180G>T 0.223243 0.5625 Uncertain 2_42544821_C->T 2 42544821 42544821 C T snp 564.77 1/1 42 18 0 18 1.0 intronic rs7558501 EML4 AU NM_001145076 exon18 c.147913+157C>T 0.465056 0.7063 Uncertain 2_42553210_C->A 2 42553210 42553210 C A snp 2028.77 1/1 99 63 0 63 1.0 intronic rs2286703 EML4 AU NM_001145076 exon20 c.156542-83C>A 0.220647 0.5556 Uncertain 2_42556022_A->T 2 42556022 42556022 A T snp 1589.77 1/1 99 60 0 60 1.0 splicing rs2286700 EML4 AU NM_001145076 exon21 c.159274-3A>T 0.226837 0.5704 0.206443 0.2539 0.5733 Pathogenic 2_42560975_A->G 2 42560975 42560975 A G snp 915.77 0/1 99 66 28 38 0.58 intergenic rs7572231 EML4 AU 0.670128 0.7728 0.6046 0.7955 0 D 0.000 P -1.058 T Uncertain 2_42579820_G->T 2 42579820 42579820 G T snp 1224.77 0/1 99 121 71 50 0.41 intronic rs139413971 COX7A2L AU NM_004718 exon2 c.1993-531G>T 0.0061901 0.0089 Uncertain 2_42588195_T->C 2 42588195 42588195 T C snp 1599.77 0/1 99 134 60 74 0.55 intronic rs3764906 COX7A2L AU NM_004718 exon3 c.9871-34T>C 0.276558 0.5645 0.272685 0.3384 0.6015 Uncertain 2_42719847_-->G 2 42719847 42719847 - G indel 2801.73 1/1 99 72 0 72 1.0 intronic rs113015907 KCNG3 AU NM_133329 exon2 c.48903-129insG 0.997604 0.996 Uncertain 2_42719860_-->C 2 42719860 42719860 - C indel 3647.73 1/1 99 87 0 87 1.0 intronic rs112592817 KCNG3 AU NM_133329 exon2 c.48903-116insC 0.997604 0.996 Uncertain 2_42795954_T->C 2 42795954 42795954 T C snp 1686.77 1/1 99 64 0 64 1.0 intronic rs78106475 MTA3 AU NM_020744 exon1 c.28+41T>C 1 1 1 1 Uncertain 2_42836516_A->G 2 42836516 42836516 A G snp 258.77 0/1 99 21 11 10 0.48 intronic rs6720277 MTA3 AU NM_020744 exon4 c.40712-81A>G 0.828674 0.6627 Uncertain 2_42925080_TTC->- 2 42925080 42925082 TTC - indel 306.73 0/1 99 15 6 9 0.6 intronic rs148782944 MTA3 AU NM_020744 exon11 c.129089+106_129089+108delTTC 0.24381 0.3165 Uncertain 2_42931217_A->C 2 42931217 42931217 A C snp 216.84 1/1 18 7 0 7 1.0 intronic rs2304658 MTA3 AU NM_020744 exon12 c.135448-116A>C 0.748802 0.8026 Uncertain 2_42935961_C->T 2 42935961 42935961 C T snp 2639.77 1/1 99 93 0 93 1.0 intronic rs4953577 MTA3 AU NM_020744 exon14 c.140128-52C>T 0.741214 0.7629 Uncertain 2_42935979_C->T 2 42935979 42935979 C T snp 2824.77 1/1 99 101 0 101 1.0 intronic rs4953578 MTA3 AU NM_020744 exon14 c.140128-34C>T 0.741214 0.7639 0.647952 0.6434 0.6928 Uncertain 2_42989994_G->T 2 42989994 42989994 G T snp 1831.77 1/1 99 55 0 55 1.0 UTR3 rs2278585 OXER1 AU 0.334265 0.5942 Uncertain 2_42990010_C->A 2 42990010 42990010 C A snp 2523.77 1/1 99 83 0 83 1.0 UTR3 rs12617777 OXER1 AU 0.400958 0.5893 0.282913 0.2960 0.6100 Uncertain 2_42990101_G->C 2 42990101 42990101 G C snp 5977.77 1/1 99 219 1 218 1.0 exonic rs2278586 OXER1 AU nonsynonymous SNV NM_148962 exon1 c.C1219G p.L407V 0.334864 0.5952 0.216746 0.2734 0.6147 0.5 T 0.0 P -0.930 T 0.02 T 0.008 T Pathogenic 2_42990336_T->G 2 42990336 42990336 T G snp 3223.52 1/1 99 111 0 111 1.0 exonic rs1992286 OXER1 AU synonymous SNV NM_148962 exon1 c.A984C p.R328R 0.780152 0.8165 0.660464 0.6475 0.7796 Uncertain 2_42990522_C->T 2 42990522 42990522 C T snp 5779.77 1/1 99 213 1 212 1.0 exonic rs12712859 OXER1 AU synonymous SNV NM_148962 exon1 c.G798A p.A266A 0.342252 0.5913 0.223504 0.3409 0.6478 Uncertain 2_42991468_G->C 2 42991468 42991468 G C snp 56.74 1/1 6 2 0 2 1.0 upstream rs10194180 OXER1 AU 0.342851 0.6042 Uncertain 2_42996710_TGTGTGTGTG->- 2 42996710 42996719 TGTGTGTGTG - indel 3268.73 1/1 84 28 0 28 1.0 intronic rs35746707 HAAO AU NM_012205 exon4 c.2276-142_2276-133delTGTGTGTGTG Uncertain 2_42996760_AGAG->- 2 42996760 42996763 AGAG - indel 3083.73 1/1 99 50 0 50 1.0 intronic rs10535571 HAAO AU NM_012205 exon4 c.2276-92_2276-89delAGAG 0.799121 0.6815 Uncertain 2_42997614_G->A 2 42997614 42997614 G A snp 3423.77 1/1 99 124 0 124 1.0 intronic rs2241850 HAAO AU NM_012205 exon6 c.3056-18G>A 0.408746 0.6339 0.308381 0.4269 0.6558 Uncertain 2_43011169_G->T 2 43011169 43011169 G T snp 1743.77 1/1 99 64 0 64 1.0 intronic rs4953660 HAAO AU NM_012205 exon8 c.16431+162G>T 0.676518 0.756 Uncertain 2_43015612_G->T 2 43015612 43015612 G T snp 3861.77 1/1 99 129 0 129 1.0 intronic rs3816181 HAAO AU NM_012205 exon9 c.21092-56G>T 0.858826 0.7996 0.803767 Uncertain 2_43015704_T->A 2 43015704 43015704 T A snp 6383.77 1/1 99 246 0 246 1.0 exonic rs3816182 HAAO AU nonsynonymous SNV NM_012205 exon2 c.A124T p.T42S 0.314696 0.5794 0.230355 0.2845 0.5989 0.81 T 0.001 P -0.955 T 0.001 T 0.002 T Pathogenic 2_43015719_T->C 2 43015719 43015719 T C snp 6266.77 1/1 99 236 0 236 1.0 exonic rs3816183 HAAO AU nonsynonymous SNV NM_012205 exon2 c.A109G p.I37V 0.859625 0.8026 0.793634 0.8061 0.7723 1 T 0.000 P -0.970 T 0.0 T 0.0 T Pathogenic 2_43015757_G->A 2 43015757 43015757 G A snp 5541.77 1/1 99 206 0 206 1.0 intronic rs3816184 HAAO AU NM_012205 exon9 c.21171+10G>A 0.858427 0.8006 0.793557 0.8035 0.7688 Uncertain 2_43015902_G->A 2 43015902 43015902 G A snp 458.77 1/1 36 12 0 12 1.0 intronic rs3816185 HAAO AU NM_012205 exon9 c.21171+155G>A 0.858027 0.7996 Uncertain 2_43019730_A->G 2 43019730 43019730 A G snp 1032.77 1/1 75 33 0 33 1.0 UTR5 rs2304656 HAAO AU 0.858626 0.8155 Uncertain 2_43513935_A->- 2 43513935 43513935 A - indel 190.73 0/1 99 15 9 6 0.4 intronic rs201941340 THADA AU NM_001083953 exon4 c.55960-111delA 0.00559105 0.0228 Uncertain 2_43625078_T->C 2 43625078 43625078 T C snp 456.77 0/1 99 30 13 17 0.57 intronic rs7605661 THADA AU NM_001083953 exon10 c.167023-31T>C 0.323083 0.0337 0.396532 0.3346 0.0397 Uncertain 2_43625184_T->A 2 43625184 43625184 T A snp 1699.77 0/1 99 124 53 71 0.57 exonic rs33979934 THADA AU nonsynonymous SNV NM_022065 exon29 c.A4153T p.T1385S 0.213259 0.0327 0.244893 0.2469 0.0369 0.47 T 0.001 P -1.038 T 0.032 T 0.031 T Pathogenic 2_43657510_T->A 2 43657510 43657510 T A snp 125.77 0/1 99 24 16 8 0.33 intronic rs35340152 THADA AU NM_001083953 exon12 c.199355+69T>A 0.245208 0.0337 Uncertain 2_43732958_C->T 2 43732958 43732958 C T snp 226.77 0/1 99 14 6 8 0.57 intronic rs3764769 THADA AU NM_001083953 exon15 c.274788+84C>T 0.150759 0.0278 Uncertain 2_43799070_C->T 2 43799070 43799070 C T snp 582.77 0/1 99 23 6 17 0.74 intronic rs3752355 THADA AU NM_001271644 exon5 c.15529+69C>T 0.64357 0.2897 Uncertain 2_43802261_C->A 2 43802261 43802261 C A snp 209.84 1/1 18 9 0 9 1.0 intronic rs970175 THADA AU NM_001271644 exon7 c.18694+95C>A 0.9998 1 Uncertain 2_43871983_T->C 2 43871983 43871983 T C snp 1427.77 0/1 99 113 57 56 0.5 intronic rs12105773 PLEKHH2 AU NM_172069 exon2 c.123+48T>C 0.581869 0.2808 0.684453 0.6033 0.3111 Uncertain 2_43902511_G->C 2 43902511 43902511 G C snp 1034.77 0/1 99 66 28 38 0.58 UTR3 rs755862 LOC728819 AU 0.552716 0.1875 0.706303 0.6884 0.2874 Uncertain 2_43903066_A->G 2 43903066 43903066 A G snp 2791.77 0/1 99 250 131 119 0.48 exonic rs3828297 LOC728819 AU synonymous SNV NM_001101330 exon1 c.T396C p.G132G 0.542532 0.1905 0.699333 0.6447 0.2184 Uncertain 2_43903354_T->C 2 43903354 43903354 T C snp 3309.77 0/1 99 250 119 131 0.52 exonic rs4952675 LOC728819 AU synonymous SNV NM_001101330 exon1 c.A108G p.Q36Q 0.502596 0.1558 0.671780 0.6154 0.1885 Uncertain 2_43903483_T->C 2 43903483 43903483 T C snp 1961.77 0/1 99 154 79 75 0.49 intronic rs4952995 PLEKHH2 AU NM_172069 exon3 c.34189-2518T>C 0.560503 0.2619 0.700757 0.6542 0.3000 Uncertain 2_43947760_T->C 2 43947760 43947760 T C snp 893.77 0/1 99 94 51 43 0.46 intronic rs10206389 PLEKHH2 AU NM_172069 exon16 c.75995-47T>C 0.15016 0.0992 0.155467 0.2164 0.1053 Uncertain 2_43953664_A->G 2 43953664 43953664 A G snp 496.77 0/1 99 36 19 17 0.47 intronic rs7574334 PLEKHH2 AU NM_172069 exon17 c.81778+74A>G 0.546925 0.1657 Uncertain 2_43965705_T->C 2 43965705 43965705 T C snp 531.77 0/1 99 28 11 17 0.61 intronic rs28646121 PLEKHH2 AU NM_172069 exon20 c.93847+46T>C 0.201278 0.1131 0.193645 0.2323 0.1199 Uncertain 2_43985940_C->A 2 43985940 43985940 C A snp 117.77 0/1 99 7 3 4 0.57 intronic rs7570252 PLEKHH2 AU NM_172069 exon27 c.114226-98C>A 0.331669 0.1627 Uncertain 2_43991310_C->T 2 43991310 43991310 C T snp 169.9 1/1 15 5 0 5 1.0 intronic rs10205936 PLEKHH2 AU NM_172069 exon29 c.119554-56C>T 0.45028 0.1637 Uncertain 2_43991357_A->C 2 43991357 43991357 A C snp 919.77 1/1 69 34 0 34 1.0 intronic rs7565517 PLEKHH2 AU NM_172069 exon29 c.119554-9A>C 0.747604 0.4385 0.824669 0.7480 0.4490 Uncertain 2_44004010_T->C 2 44004010 44004010 T C snp 787.77 0/1 99 73 37 36 0.49 exonic rs2288709 DYNC2LI1 AU nonsynonymous SNV NM_016008 exon2 c.T98C p.F33S 0.513179 0.1696 0.518222 0.4359 0.1866 0.85 T 1.0 P -0.989 T 0.002 T 0.002 T Pathogenic 2_44010620_G->A 2 44010620 44010620 G A snp 761.77 0/1 99 65 31 34 0.52 intronic rs3815995 DYNC2LI1 AU NM_016008 exon3 c.9381-38G>A 0.44389 0.1657 0.434451 0.3836 0.1839 Uncertain 2_44010887_G->T 2 44010887 44010887 G T snp 56.74 1/1 6 2 0 2 1.0 intronic rs2288707 DYNC2LI1 AU NM_016008 exon3 c.9416+194G>T 0.149561 0.119 Uncertain 2_44014301_A->G 2 44014301 44014301 A G snp 1463.77 0/1 99 110 51 59 0.54 intronic rs3765000 DYNC2LI1 AU NM_016008 exon4 c.13042-18A>G 0.154553 0.0992 0.118253 0.1189 0.1098 Uncertain 2_44016885_C->G 2 44016885 44016885 C G snp 2008.77 0/1 99 162 78 84 0.52 intronic rs3815994 DYNC2LI1 AU NM_016008 exon5 c.15583+25C>G 0.214657 0.1667 0.167846 0.1414 0.1755 Uncertain 2_44019799_G->A 2 44019799 44019799 G A snp 332.77 0/1 99 44 29 15 0.34 intronic rs13420319 DYNC2LI1 AU NM_016008 exon6 c.20318-1796G>A 0.20607 0.1438 0.1312 0.1699 Uncertain 2_44019930_C->T 2 44019930 44019930 C T snp 1160.77 0/1 99 95 45 50 0.53 intronic rs10199777 DYNC2LI1 AU NM_016008 exon6 c.20318-1665C>T 0.214058 0.1637 0.1289 0.1748 Uncertain 2_44019936_C->T 2 44019936 44019936 C T snp 1170.77 0/1 99 98 46 52 0.53 intronic rs10199778 DYNC2LI1 AU NM_016008 exon6 c.20318-1659C>T 0.183706 0.12 0.1204 0.1074 Uncertain 2_44021826_T->A 2 44021826 44021826 T A snp 1173.77 0/1 99 135 85 50 0.37 intronic rs9309107 DYNC2LI1 AU NM_016008 exon6 c.20505+44T>A 0.451677 0.1895 0.441565 0.3950 0.1992 0 D 0.0 P -1.021 T 0.0 T 0.0 T Uncertain 2_44027948_G->A 2 44027948 44027948 G A snp 410.77 0/1 99 43 25 18 0.42 intronic rs3792013 DYNC2LI1 AU NM_016008 exon9 c.26702-31G>A 0.109625 0.0992 0.075893 0.1089 0.1099 Uncertain 2_44028180_C->T 2 44028180 44028180 C T snp 102.77 0/1 99 12 7 5 0.42 intronic rs13432783 DYNC2LI1 AU NM_016008 exon9 c.26779+124C>T 0.18131 0.1181 Uncertain 2_44032084_G->C 2 44032084 44032084 G C snp 118.77 0/1 99 11 6 5 0.45 intronic rs2116547 DYNC2LI1 AU NM_016008 exon11 c.30601+206G>C 0.25599 0.122 Uncertain 2_44032189_C->G 2 44032189 44032189 C G snp 549.77 0/1 99 63 38 25 0.4 intronic rs10177630 DYNC2LI1 AU NM_016008 exon12 c.31015-103C>G 0.289736 0.1667 Uncertain 2_44036800_A->G 2 44036800 44036800 A G snp 270.77 0/1 99 31 18 13 0.42 intronic rs4952683 DYNC2LI1 AU NM_016008 exon13 c.35566-43A>G 0.286342 0.1687 0.261248 0.2585 0.1812 Uncertain 2_44036922_T->C 2 44036922 44036922 T C snp 105.77 0/1 99 14 7 7 0.5 UTR3 rs10186552 DYNC2LI1 AU 0.255591 0.124 0.240681 0.2633 0.1445 Uncertain 2_44040401_G->C 2 44040401 44040401 G C snp 1947.77 0/1 99 189 103 86 0.46 exonic rs6720173 ABCG5 AR nonsynonymous SNV NM_022436 exon13 c.C1810G p.Q604E 0.240016 0.121 0.210288 0.2097 0.1172 0.55 T 0.492 P -1.064 T 0.091 T 0.025 T ID=CM025438;DIS=Increased serum cholesterol, association with;TAG=DP;PUB=12220438 DP Pathogenic 2_44066174_T->G 2 44066174 44066174 T G snp 483.77 0/1 99 46 24 22 0.48 UTR5 rs3806471 ABCG8 AR,AU 0.489417 0.8423 0.292072 0.4165 0.8550 Uncertain 2_44071625_C->A 2 44071625 44071625 C A snp 1440.77 0/1 99 145 78 67 0.46 intronic rs4148209 ABCG8 AR,AU NM_022437 exon2 c.5453-20C>A 0.434505 0.8512 0.319775 0.4295 0.8691 Uncertain 2_44071639_C->T 2 44071639 44071639 C T snp 1527.77 0/1 99 147 84 63 0.43 intronic rs4148210 ABCG8 AR,AU NM_022437 exon2 c.5453-6C>T 0.515974 0.8512 0.393895 0.4491 0.8697 Uncertain 2_44071743_A->G 2 44071743 44071743 A G snp 1255.77 0/1 99 129 71 58 0.45 exonic rs4148211 ABCG8 AR,AU nonsynonymous SNV NM_022437 exon2 c.A161G p.Y54C 0.434704 0.8512 0.320852 0.4287 0.8702 0.06 T 1.000 P -0.942 T 0.321 T 0.191 T ID=CM075964;DIS=Smaller decline in cholesterol synthesis after weight loss;TAG=DFP;PUB=17827468 DFP Pathogenic 2_44071833_A->C 2 44071833 44071833 A C snp 429.77 0/1 99 23 10 13 0.57 intronic rs4148212 ABCG8 AR,AU NM_022437 exon2 c.5555+86A>C 0.514976 0.8512 Uncertain 2_44071852_G->C 2 44071852 44071852 G C snp 267.77 0/1 99 13 5 8 0.62 intronic rs4148213 ABCG8 AR,AU NM_022437 exon2 c.5555+105G>C 0.516174 0.8512 Uncertain 2_44079004_T->C 2 44079004 44079004 T C snp 1638.77 0/1 99 117 61 56 0.48 intronic rs4148214 ABCG8 AR,AU NM_022437 exon4 c.12769+43T>C 0.683706 0.8581 0.594879 0.6177 0.8790 Uncertain 2_44099433_C->A 2 44099433 44099433 C A snp 2644.77 0/1 99 223 116 107 0.48 exonic rs4148217 ABCG8 AR,AU nonsynonymous SNV NM_022437 exon8 c.C1199A p.T400K 0.215655 0.1141 0.219053 0.2146 0.1119 0.31 T 0.000 P -1.030 T 0.059 T 0.046 T ID=CM042913;DIS=Reduced serum noncholesterol sterols;TAG=DFP;PUB=11893785 DFP Pathogenic 2_44099582_G->A 2 44099582 44099582 G A snp 345.77 0/1 99 21 7 14 0.67 intronic rs4148218 ABCG8 AR,AU NM_022437 exon8 c.33253+137G>A 0.214257 0.1151 Uncertain 2_44101215_A->- 2 44101215 44101215 A - indel 1180.73 1/1 81 27 0 27 1.0 intronic rs10709506 ABCG8 AR,AU NM_022437 exon9 c.34933+90delA 0.934904 0.997 Uncertain 2_44101394_A->G 2 44101394 44101394 A G snp 298.78 1/1 24 13 0 13 1.0 intronic rs4953027 ABCG8 AR,AU NM_022437 exon10 c.35353-151A>G 0.810703 0.9861 Uncertain 2_44101430_T->G 2 44101430 44101430 T G snp 568.77 0/1 99 37 15 22 0.59 intronic rs4952689 ABCG8 AR,AU NM_022437 exon10 c.35353-115T>G 0.525759 0.7996 Uncertain 2_44101537_-->T 2 44101537 44101537 - T indel 2920.73 1/1 99 158 7 151 0.96 intronic rs138296512 ABCG8 AR,AU NM_022437 exon10 c.35353-8insT 0.229832 0.3313 0.1855 0.3156 Uncertain 2_44101538_C->T 2 44101538 44101538 C T snp 4415.77 1/1 99 159 1 158 0.99 intronic rs28517482 ABCG8 AR,AU NM_022437 exon10 c.35353-7C>T 0.764976 0.9742 0.6733 0.9783 Uncertain 2_44101649_-->CC 2 44101649 44101649 - CC indel 2939.73 ./1 99 89 0 89 1.0 intronic rs10667526 ABCG8 AR,AU NM_022437 exon10 c.35430+27insCC 0.296326 0.628 0.1905 0.6310 Uncertain 2_44101649_-->C 2 44101649 44101649 - C indel 2939.73 ./1 99 89 0 89 1.0 intronic rs10667526 ABCG8 AR,AU NM_022437 exon10 c.35430+27insC 0.315695 0.3145 0.4032 0.3114 Uncertain 2_44101711_T->C 2 44101711 44101711 T C snp 451.77 0/1 99 22 8 14 0.64 intronic rs13405698 ABCG8 AR,AU NM_022437 exon10 c.35430+89T>C 0.166134 0.0119 Uncertain 2_44102235_T->C 2 44102235 44102235 T C snp 959.77 0/1 99 75 35 40 0.53 intronic rs4148220 ABCG8 AR,AU NM_022437 exon11 c.36092-49T>C 0.322085 0.4742 0.182839 0.2450 0.4647 Uncertain 2_44102634_C->T 2 44102634 44102634 C T snp 37.77 0/1 66 6 4 2 0.33 intronic rs4148222 ABCG8 AR,AU NM_022437 exon11 c.36360+82C>T 0.333666 0.4554 Uncertain 2_44104925_T->C 2 44104925 44104925 T C snp 4460.77 1/1 99 165 0 165 1.0 exonic rs6544718 ABCG8 AR,AU nonsynonymous SNV NM_022437 exon13 c.T1895C p.V632A 0.922923 1 0.837229 0.8421 0.9997 0.91 T 0.0 P -1.008 T 0.0 T 0.0 T ID=CM067333;DIS=Increased serum cholesterol, in low-cholesterol consumers;TAG=FP;PUB=16980816 FP Pathogenic 2_44116836_C->T 2 44116836 44116836 C T snp 4330.77 1/1 99 164 1 163 0.99 intronic rs2955280 LRPPRC AR NM_133259 exon2 c.1134-36C>T 0.74381 0.9563 0.598493 0.5962 0.9504 Uncertain 2_44117046_A->C 2 44117046 44117046 A C snp 479.77 0/1 99 32 13 19 0.59 intronic rs2955281 LRPPRC AR NM_133259 exon2 c.1277+31A>C 0.0165735 0.0665 0.000461 0.0080 0.0792 Uncertain 2_44117308_A->G 2 44117308 44117308 A G snp 706.77 0/1 99 40 16 24 0.6 intronic rs2954808 LRPPRC AR NM_133259 exon2 c.1277+293A>G 0.0163738 0.0655 Uncertain 2_44123673_C->- 2 44123673 44123673 C - indel 3735.73 1/1 99 83 0 83 1.0 intronic rs3839036 LRPPRC AR NM_133259 exon4 c.8034-99delC 0.641174 0.9504 Uncertain 2_44123759_G->A 2 44123759 44123759 G A snp 2933.77 0/1 99 250 128 122 0.49 intronic rs3795859 LRPPRC AR NM_133259 exon4 c.8034-13G>A 0.205072 0.4573 0.082270 0.1599 0.4443 Uncertain 2_44145374_G->T 2 44145374 44145374 G T snp 3230.05 1/1 99 112 0 112 1.0 intronic rs7568481 LRPPRC AR NM_133259 exon11 c.29656-20G>T 0.654553 0.9603 0.486698 0.4992 0.9580 Uncertain 2_44152180_G->A 2 44152180 44152180 G A snp 3933.77 1/1 99 142 1 141 0.99 intronic rs4952694 LRPPRC AR NM_133259 exon12 c.36467-25G>A 0.751997 0.9663 0.592726 0.5930 0.9638 Uncertain 2_44152406_G->T 2 44152406 44152406 G T snp 96.28 1/1 9 3 0 3 1.0 intronic rs4953039 LRPPRC AR NM_133259 exon12 c.36558+110G>T 0.726637 0.9603 Uncertain 2_44172444_A->C 2 44172444 44172444 A C snp 4359.77 1/1 99 157 0 157 1.0 intronic rs28394191 LRPPRC AR NM_133259 exon17 c.56732-26A>C 0.607628 0.9633 0.449400 0.4959 0.9647 Uncertain 2_44173422_T->G 2 44173422 44173422 T G snp 2220.77 1/1 99 74 0 74 1.0 intronic rs7594526 LRPPRC AR NM_133259 exon18 c.57644+40T>G 0.635583 0.9573 0.474069 0.5014 0.9585 Uncertain 2_44186315_C->T 2 44186315 44186315 C T snp 1666.77 0/1 99 167 96 71 0.43 intronic rs781146791 LRPPRC AR NM_133259 exon26 c.71941-1364C>T 0 0 Uncertain 2_44187906_T->C 2 44187906 44187906 T C snp 34.77 0/1 33 3 1 2 0.67 intronic rs17578702 LRPPRC AR NM_133259 exon26 c.72035+133T>C 0.0605032 0.1984 Uncertain 2_44201376_T->C 2 44201376 44201376 T C snp 2461.77 0/1 99 248 145 103 0.42 exonic rs4953042 LRPPRC AR synonymous SNV NM_133259 exon9 c.A1068G p.Q356Q 0.255791 0.5198 0.115178 0.2099 0.4994 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000117555.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 2_44502788_A->C 2 44502788 44502788 A C snp 2691.77 0/1 99 250 138 112 0.45 exonic rs3738985 SLC3A1 AR,AD synonymous SNV NM_000341 exon1 c.A114C p.G38G 0.703474 0.377 0.778871 0.7328 0.3667 0.000 P Uncertain 2_44507809_C->A 2 44507809 44507809 C A snp 31.77 0/1 60 8 6 2 0.25 intronic rs146770938 SLC3A1 AR,AD NM_000341 exon2 c.5180-45C>A 0.00119808 0.006 0.0007 0.0089 Uncertain 2_44508200_C->T 2 44508200 44508200 C T snp 41.77 0/1 70 4 2 2 0.5 intronic rs527302055 SLC3A1 AR,AD NM_000341 exon2 c.5360+166C>T 0.00299521 0.0149 Uncertain 2_44508835_G->A 2 44508835 44508835 G A snp 307.77 0/1 99 17 6 11 0.65 intronic rs11124986 SLC3A1 AR,AD NM_000341 exon3 c.6006+155G>A 0.557508 0.3413 Uncertain 2_44512971_G->A 2 44512971 44512971 G A snp 781.77 0/1 99 46 20 26 0.57 intronic rs3768919 SLC3A1 AR,AD NM_000341 exon4 c.10496-199G>A 0.645567 0.3323 Uncertain 2_44545234_-->T 2 44545234 44545234 - T indel 268.73 0/1 99 105 36 69 0.66 UTR3 rs777388081 PREPL AU 0.0615 0.2 Uncertain 2_44942384_C->G 2 44942384 44942384 C G snp 400.77 0/1 99 58 35 23 0.4 intronic rs343957 CAMKMT AU NM_024766 exon7 c.353279-41C>G 0.783546 0.8125 0.700984 0.6814 0.8171 Uncertain 2_44981119_T->G 2 44981119 44981119 T G snp 3230.05 1/1 99 108 0 108 1.0 intronic rs3738980 CAMKMT AU NM_024766 exon9 c.392047-74T>G 0.303514 0.5833 Uncertain 2_45169333_G->T 2 45169333 45169333 G T snp 789.77 0/1 99 69 33 36 0.52 exonic rs78018362 SIX3 AU,AD,AO synonymous SNV NM_005413 exon1 c.G90T p.A30A 0.0327476 0.0437 0.014328 0.0305 0.0511 CLINSIG=non-pathogenic;CLNDBN=Holoprosencephaly_2;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000055692.1;CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet;CLNDSDBID=NBK1530:C1834877:157170:ORPHA2162 Uncertain 2_45170153_G->A 2 45170153 45170153 G A snp 786.77 0/1 99 45 18 27 0.6 intronic rs4953152 SIX3 AU,AD,AO NM_005413 exon1 c.806+104G>A 0.382987 0.3472 Uncertain 2_45170192_G->C 2 45170192 45170192 G C snp 295.77 0/1 99 18 9 9 0.5 intronic rs62131235 SIX3 AU,AD,AO NM_005413 exon1 c.806+143G>C 0.0734824 0.0437 Uncertain 2_45170194_A->G 2 45170194 45170194 A G snp 298.77 0/1 99 17 8 9 0.53 intronic rs338079 SIX3 AU,AD,AO NM_005413 exon1 c.806+145A>G 0.147364 0.0536 Uncertain 2_45171842_A->G 2 45171842 45171842 A G snp 4300.77 1/1 99 165 0 165 1.0 exonic rs338074 SIX3 AU,AD,AO synonymous SNV NM_005413 exon2 c.A942G p.A314A 0.9375 0.9901 0.936881 0.9215 0.9811 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000153953.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 2_45640334_T->C 2 45640334 45640334 T C snp 2633.77 0/1 99 250 143 107 0.43 exonic rs3755072 SRBD1 AU nonsynonymous SNV NM_018079 exon19 c.A2432G p.K811R 0.132588 0.2163 0.095725 0.1367 0.1923 0 D 0.763 P -1.071 T 1.0 D 0.96 D Pathogenic 2_45647071_A->G 2 45647071 45647071 A G snp 1210.77 0/1 99 87 41 46 0.53 intronic rs3213789 SRBD1 AU NM_018079 exon5 c.30585+38A>G 0.105232 0.0992 0.072889 0.0579 0.0767 Uncertain 2_45774047_A->G 2 45774047 45774047 A G snp 951.77 0/1 99 100 61 39 0.39 intronic rs185868277 SRBD1 AU NM_018079 exon8 c.157530+69A>G 0.000399361 0.001 Uncertain 2_45774548_A->C 2 45774548 45774548 A C snp 1042.77 0/1 99 85 36 49 0.58 intronic rs1865685 SRBD1 AU NM_018079 exon9 c.158212-112A>C 0.748403 0.4871 Uncertain 2_45778459_C->T 2 45778459 45778459 C T snp 538.77 0/1 99 39 22 17 0.44 intronic rs3755081 SRBD1 AU NM_018079 exon10 c.161973+38C>T 0.139976 0.2192 0.100600 0.1430 0.1995 Uncertain 2_45812666_A->G 2 45812666 45812666 A G snp 1971.77 0/1 99 151 69 82 0.54 intronic rs34838023 SRBD1 AU NM_018079 exon17 c.196298-80A>G 0.142173 0.2262 Uncertain 2_45826527_T->- 2 45826527 45826527 T - indel 1976.73 0/1 99 143 89 54 0.38 intronic rs35501868 SRBD1 AU NM_018079 exon18 c.210139-60delT 0.390974 0.2361 Uncertain 2_45829286_A->C 2 45829286 45829286 A C snp 314.77 0/1 99 22 9 13 0.59 intronic rs12998864 SRBD1 AU NM_018079 exon19 c.212774+64A>C 0.247804 0.3026 Uncertain 2_45879305_C->T 2 45879305 45879305 C T snp 2650.77 0/1 99 249 142 107 0.43 exonic rs35135425 PRKCE AU synonymous SNV NM_005400 exon1 c.C66T p.A22A 0.0183706 0.0417 0.010306 0.0139 0.0321 Uncertain 2_45879610_A->G 2 45879610 45879610 A G snp 805.77 1/1 60 24 0 24 1.0 intronic rs637909 PRKCE AU NM_005400 exon1 c.348+23A>G 0.864417 0.8948 0.864261 0.8610 0.8824 Uncertain 2_46070269_-->C 2 46070269 46070269 - C indel 225.73 0/1 99 37 20 17 0.46 intronic rs3214783 PRKCE AU NM_005400 exon2 c.190963+67insC 0.171725 0.2133 0.198211 Uncertain 2_46203796_G->A 2 46203796 46203796 G A snp 1224.77 ./1 99 42 1 41 0.98 intronic rs2278786 PRKCE AU NM_005400 exon3 c.324488+69G>A 0.18151 0.1339 Uncertain 2_46203796_G->C 2 46203796 46203796 G C snp 1224.77 ./1 99 42 1 41 0.98 intronic rs2278786 PRKCE AU NM_005400 exon3 c.324488+69G>C 0.357228 0.1587 Uncertain 2_46205925_A->G 2 46205925 46205925 A G snp 80.77 0/1 99 6 3 3 0.5 intronic rs2249633 PRKCE AU NM_005400 exon4 c.326875-189A>G 0.444489 0.7212 Uncertain 2_46211658_G->A 2 46211658 46211658 G A snp 2353.77 0/1 99 177 83 94 0.53 intronic rs4953294 PRKCE AU NM_005400 exon6 c.332450-31G>A 0.180312 0.0873 0.209643 0.2378 0.0973 Uncertain 2_46211935_T->C 2 46211935 46211935 T C snp 871.77 1/1 66 25 0 25 1.0 intronic rs2595213 PRKCE AU NM_005400 exon6 c.332580+116T>C 0.914337 0.9901 Uncertain 2_46231525_T->A 2 46231525 46231525 T A snp 826.77 0/1 99 58 29 29 0.5 intronic rs4953297 PRKCE AU NM_005400 exon8 c.352441-155T>A 0.284145 0.2887 Uncertain 2_46234418_T->C 2 46234418 46234418 T C snp 219.77 0/1 99 13 6 7 0.54 intronic rs10177075 PRKCE AU NM_005400 exon9 c.355361-182T>C 0.1873 0.0367 Uncertain 2_46234568_A->G 2 46234568 46234568 A G snp 3178.77 0/1 99 250 128 122 0.49 intronic rs10188306 PRKCE AU NM_005400 exon9 c.355361-32A>G 0.1875 0.0367 0.232254 0.1904 0.0420 Uncertain 2_46313481_C->T 2 46313481 46313481 C T snp 1237.77 0/1 99 119 63 56 0.47 exonic rs1143691 PRKCE AU synonymous SNV NM_005400 exon11 c.C1572T p.H524H 0.163738 0.3958 0.063527 0.1333 0.4221 Uncertain 2_46378419_-->AC 2 46378419 46378419 - AC indel 746.73 ./1 99 78 2 76 0.97 intronic rs35676949 PRKCE AU NM_005400 exon13 c.499129+51insAC 0.0070 0.0027 Uncertain 2_46378420_AC->- 2 46378420 46378421 AC - indel 746.73 ./1 99 78 2 76 0.97 intronic rs777209535 PRKCE AU NM_005400 exon13 c.499129+52_499129+53delAC 0.0068 0.0020 Uncertain 2_46583235_C->A 2 46583235 46583235 C A snp 94.28 1/1 9 3 0 3 1.0 intronic rs6743991 EPAS1 AU NM_001430 exon3 c.58239-54C>A 0.737021 0.8671 Uncertain 2_46583277_-->CG 2 46583277 46583277 - CG indel 626.73 1/1 51 17 0 17 1.0 intronic rs3835107 EPAS1 AU NM_001430 exon3 c.58239-12insCG Uncertain 2_46583279_C->T 2 46583279 46583279 C T snp 643.77 1/1 48 17 0 17 1.0 intronic rs75591953 EPAS1 AU NM_001430 exon3 c.58239-10C>T 0.0595048 0.001 0.0314 0.0091 Uncertain 2_46583281_C->T 2 46583281 46583281 C T snp 605.77 1/1 45 17 0 17 1.0 intronic rs75984373 EPAS1 AU NM_001430 exon3 c.58239-8C>T 0.0662939 0.001 0.4037 0.7628 Uncertain 2_46583593_G->A 2 46583593 46583593 G A snp 708.77 1/1 54 22 0 22 1.0 intronic rs2278753 EPAS1 AU NM_001430 exon3 c.58391+152G>A 0.489816 0.7599 Uncertain 2_46596951_T->A 2 46596951 46596951 T A snp 1916.77 0/1 99 183 99 84 0.46 intronic rs17035079 EPAS1 AU NM_001430 exon7 c.71915-14T>A 0.0794728 0.0992 0.072044 0.0462 0.1289 Uncertain 2_46604857_T->C 2 46604857 46604857 T C snp 353.77 0/1 40 12 2 10 0.83 intronic rs187821419 EPAS1 AU NM_001430 exon10 c.79982-175T>C 0.0716853 0.123 Uncertain 2_46605659_A->G 2 46605659 46605659 A G snp 68.77 0/1 97 7 4 3 0.43 intronic rs7571218 EPAS1 AU NM_001430 exon11 c.80745-136A>G 0.49401 0.3601 Uncertain 2_46609045_C->G 2 46609045 46609045 C G snp 1735.77 0/1 99 101 33 68 0.67 intronic rs79843796 EPAS1 AU NM_001430 exon14 c.84063-68C>G 0.0493211 0.123 Uncertain 2_46609572_A->C 2 46609572 46609572 A C snp 2738.77 0/1 99 232 112 120 0.52 exonic rs59901247 EPAS1 AU nonsynonymous SNV NM_001430 exon15 c.A2296C p.T766P 0.163339 0.126 0.147778 0.0583 0.1324 0.32 T 0.0 P -0.944 T 0.001 T 0.001 T Pathogenic 2_46707851_G->A 2 46707851 46707851 G A snp 1444.77 0/1 99 177 105 72 0.41 exonic rs61995902 TMEM247 AU nonsynonymous SNV NM_001145051 exon2 c.G425A p.R142Q 0.0115 0.0793 0.65 T -0.996 T 0.003 T 0.002 T Pathogenic 2_46707886_G->A 2 46707886 46707886 G A snp 921.77 0/1 99 96 62 34 0.35 exonic rs12612916 TMEM247 AU nonsynonymous SNV NM_001145051 exon2 c.G460A p.E154K 0.194089 0.501 0.0996 0.5303 0.22 T -0.917 T 0.005 T 0.002 T Pathogenic 2_46739157_A->G 2 46739157 46739157 A G snp 1778.77 0/1 99 153 78 75 0.49 UTR3 rs3814045 ATP6V1E2 AU 0.447484 0.6171 0.391819 0.4370 0.6071 Uncertain 2_46771134_G->C 2 46771134 46771134 G C snp 1697.77 1/1 99 48 0 48 1.0 intronic rs6714484 RHOQ AU NM_012249 exon2 c.766+183G>C 0.880591 0.9167 Uncertain 2_46799852_G->T 2 46799852 46799852 G T snp 884.77 1/1 66 31 0 31 1.0 ncRNA_intronic rs1451153 LOC100506142 AU 0.473642 0.2054 0.4629 0.2045 Uncertain 2_46800150_C->T 2 46800150 46800150 C T snp 90.28 1/1 9 3 0 3 1.0 ncRNA_intronic rs1451152 LOC100506142 AU 0.373003 0.1905 Uncertain 2_46818992_C->T 2 46818992 46818992 C T snp 1785.77 1/1 99 69 1 68 0.99 intronic rs17818315 PIGF AU NM_173074 exon3 c.4370-621C>T 0.18151 0.1468 Uncertain 2_46819815_A->G 2 46819815 46819815 A G snp 3243.77 1/1 99 115 0 115 1.0 intronic rs2305350 PIGF AU NM_173074 exon3 c.4479+93A>G 0.453275 0.1944 Uncertain 2_46839477_T->C 2 46839477 46839477 T C snp 97.28 1/1 9 4 0 4 1.0 exonic rs1824050 PIGF AU synonymous SNV NM_002643 exon4 c.A327G p.A109A 0.180312 0.121 0.217570 0.3275 0.1792 Uncertain 2_46840680_T->A 2 46840680 46840680 T A snp 133.03 1/1 12 5 0 5 1.0 intronic rs4952836 PIGF AU NM_173074 exon5 c.25589-152T>A 0.23742 0.1369 Uncertain 2_46841861_G->T 2 46841861 46841861 G T snp 220.84 1/1 18 6 0 6 1.0 intronic rs7565274 PIGF AU NM_173074 exon6 c.26832-214G>T 0.226637 0.122 Uncertain 2_46842410_A->G 2 46842410 46842410 A G snp 1123.77 1/1 81 38 0 38 1.0 intronic rs2242033 PIGF AU NM_173074 exon6 c.27081+86A>G 0.477436 0.1815 Uncertain 2_46845849_A->G 2 46845849 46845849 A G snp 1108.77 1/1 81 38 0 38 1.0 intronic rs2122715 CRIPT AR NM_014171 exon2 c.1490-62A>G 0.23123 0.122 0.290039 Uncertain 2_46986416_A->G 2 46986416 46986416 A G snp 1738.77 0/1 99 155 78 77 0.5 exonic rs6738426 SOCS5 AU synonymous SNV NM_014011 exon2 c.A747G p.T249T 0.21845 0.0853 0.304030 0.3257 0.1105 Uncertain 2_46987300_T->G 2 46987300 46987300 T G snp 1292.77 1/1 93 43 0 43 1.0 UTR3 rs3768720 SOCS5 AU 0.714457 0.5516 0.715287 0.6674 0.5543 Uncertain 2_46987338_C->T 2 46987338 46987338 C T snp 174.77 0/1 99 25 18 7 0.28 UTR3 rs41379147 SOCS5 AU 0.0517173 0.0228 Uncertain 2_46987341_C->T 2 46987341 46987341 C T snp 170.77 0/1 99 24 17 7 0.29 UTR3 rs41432848 SOCS5 AU 0.0519169 0.0228 Uncertain 2_47044277_C->T 2 47044277 47044277 C T snp 431.77 1/1 33 12 0 12 1.0 ncRNA_intronic rs2289930 LINC01118 AU 0.566494 0.5893 Uncertain 2_47045267_G->A 2 47045267 47045267 G A snp 1047.77 1/1 78 33 0 33 1.0 ncRNA_intronic rs2289931 LINC01118 AU 0.69349 0.6339 Uncertain 2_47045309_C->T 2 47045309 47045309 C T snp 2706.77 1/1 99 92 0 92 1.0 ncRNA_intronic rs2289933 LINC01118 AU 0.56889 0.5883 0.5251 0.6347 Uncertain 2_47045321_A->G 2 47045321 47045321 A G snp 1373.77 0/1 99 103 49 54 0.52 ncRNA_exonic rs17773492 LINC01118 AU 0.229832 0.1478 0.3237 0.1429 0 D -0.994 T Uncertain 2_47049409_C->T 2 47049409 47049409 C T snp 1016.77 1/1 75 31 0 31 1.0 ncRNA_exonic rs2278715 LINC01118 AU 0.600639 0.625 Uncertain 2_47049453_A->G 2 47049453 47049453 A G snp 401.77 1/1 30 13 0 13 1.0 ncRNA_exonic rs1053952 LINC01118 AU 0.748003 0.6815 Uncertain 2_47081092_C->T 2 47081092 47081092 C T snp 446.77 1/1 33 17 0 17 1.0 ncRNA_intronic rs11687883 LINC01119 AU 0.615216 0.494 Uncertain 2_47081158_G->A 2 47081158 47081158 G A snp 277.77 0/1 99 21 9 12 0.57 ncRNA_intronic rs115564640 LINC01119 AU 0.0579073 0.1468 Uncertain 2_47081196_C->G 2 47081196 47081196 C G snp 362.78 1/1 27 14 0 14 1.0 ncRNA_intronic rs61507430 LINC01119 AU 0.364018 0.3889 Uncertain 2_47083042_A->T 2 47083042 47083042 A T snp 70.77 0/1 99 13 8 5 0.38 ncRNA_intronic rs3768718 LINC01119 AU 0.213658 0.2312 0.1280 0.2182 Uncertain 2_47083044_A->T 2 47083044 47083044 A T snp 70.77 0/1 99 13 8 5 0.38 ncRNA_intronic rs1079 LINC01119 AU 0.590855 0.4762 0.2891 0.2093 Uncertain 2_47083044_-->TTTT 2 47083044 47083044 - TTTT indel 675.73 1/1 39 13 0 13 1.0 ncRNA_intronic rs199968267 LINC01119 AU 0.0204 0.0465 Uncertain 2_47083252_G->T 2 47083252 47083252 G T snp 572.77 0/1 99 41 18 23 0.56 ncRNA_intronic rs11691225 LINC01119 AU 0.181709 0.2381 Uncertain 2_47083289_G->A 2 47083289 47083289 G A snp 305.77 0/1 99 18 7 11 0.61 ncRNA_intronic rs78498173 LINC01119 AU 0.061901 0.1468 Uncertain 2_47085398_C->T 2 47085398 47085398 C T snp 1188.77 1/1 87 31 0 31 1.0 ncRNA_exonic rs2278711 LINC01119 AU 0.507788 0.4891 0.5224 0.4486 Uncertain 2_47184208_C->G 2 47184208 47184208 C G snp 1086.77 0/1 99 74 34 40 0.54 intronic rs118098285 TTC7A AR NM_020458 exon3 c.15466+62C>G 0.00638978 0.0179 Uncertain 2_47185438_G->A 2 47185438 47185438 G A snp 554.77 0/1 99 60 33 27 0.45 intronic rs4952856 TTC7A AR NM_020458 exon3 c.15466+1292G>A 0.273363 0.503 Uncertain 2_47201797_A->T 2 47201797 47201797 A T snp 620.77 1/1 45 23 0 23 1.0 intronic rs6745836 TTC7A AR NM_020458 exon4 c.33431-314A>T 0.694888 0.7748 0.6868 0.76 1 T 0.0 P Uncertain 2_47201992_T->- 2 47201992 47201992 T - indel 223.8 1/1 18 6 0 6 1.0 intronic rs67758600 TTC7A AR NM_020458 exon4 c.33431-119delT 0.401757 0.6716 Uncertain 2_47250819_A->G 2 47250819 47250819 A G snp 199.78 0/1 24 8 2 6 0.75 intronic rs12988535 TTC7A AR NM_020458 exon13 c.81924+215A>G 0.33127 0.1349 Uncertain 2_47251469_G->C 2 47251469 47251469 G C snp 4622.77 1/1 99 169 0 169 1.0 exonic rs2304290 TTC7A AR nonsynonymous SNV NM_020458 exon14 c.G1612C p.V538L 0.270168 0.6032 0.170921 0.1980 0.5903 1 T 0.710 P -0.923 T 0.002 T 0.003 T Pathogenic 2_47251634_T->C 2 47251634 47251634 T C snp 5228.77 1/1 99 196 0 196 1.0 intronic rs6713052 TTC7A AR NM_020458 exon14 c.82818+136T>C 0.720447 0.8502 Uncertain 2_47256297_C->T 2 47256297 47256297 C T snp 988.77 1/1 72 38 0 38 1.0 intronic rs2304289 TTC7A AR NM_020458 exon15 c.87682-65C>T 0.282149 0.629 Uncertain 2_47256618_A->G 2 47256618 47256618 A G snp 1279.77 1/1 93 39 0 39 1.0 intronic rs7575628 TTC7A AR NM_020458 exon15 c.87843+95A>G 0.387181 0.6438 Uncertain 2_47273668_G->A 2 47273668 47273668 G A snp 256.77 0/1 99 17 8 9 0.53 intronic rs12712986 TTC7A AR NM_020458 exon16 c.104890+98G>A 0.228235 0.1647 Uncertain 2_47274443_G->T 2 47274443 47274443 G T snp 592.77 0/1 99 60 31 29 0.48 intronic rs4953451 TTC7A AR NM_001288951 exon17 c.105796-33G>T 0.0816693 0.3194 0.0289 0.3107 0.05 T 0.000 P -0.970 T 0.651 T 0.121 P Uncertain 2_47277043_C->G 2 47277043 47277043 C G snp 917.77 0/1 99 65 31 34 0.52 intronic rs2304287 TTC7A AR NM_020458 exon17 c.108407-44C>G 0.16893 0.1716 0.202015 0.2170 0.1837 Uncertain 2_47277207_C->A 2 47277207 47277207 C A snp 5910.77 1/1 99 221 1 220 1.0 intronic rs3816066 TTC7A AR NM_020458 exon17 c.108505+22C>A 0.611022 0.748 0.081040 0.4654 0.7506 Uncertain 2_47277208_A->G 2 47277208 47277208 A G snp 5994.77 1/1 99 220 0 220 1.0 intronic rs3816065 TTC7A AR NM_020458 exon17 c.108505+23A>G 0.613019 0.75 0.087806 0.4677 0.7548 Uncertain 2_47278901_G->A 2 47278901 47278901 G A snp 656.77 1/1 48 26 0 26 1.0 exonic rs3739100 TTC7A AR synonymous SNV NM_020458 exon18 c.G2034A p.S678S 0.183906 0.4435 0.073514 0.1071 0.4706 Uncertain 2_47301029_A->G 2 47301029 47301029 A G snp 1735.77 1/1 99 54 0 54 1.0 exonic rs3739099 TTC7A AR synonymous SNV NM_020458 exon20 c.A2544G p.V848V 0.332468 0.6577 0.143187 0.1939 0.6669 Uncertain 2_47314048_T->C 2 47314048 47314048 T C snp 419.77 1/1 33 12 0 12 1.0 downstream rs2280647 C2orf61 AU 0.33127 0.6647 Uncertain 2_47314052_T->C 2 47314052 47314052 T C snp 379.77 1/1 30 12 0 12 1.0 downstream rs1474394 C2orf61 AU 0.914337 0.9802 Uncertain 2_47314451_C->T 2 47314451 47314451 C T snp 96.28 1/1 9 3 0 3 1.0 intronic rs61274551 C2orf61 AU NM_001163561 exon1 c.123+182C>T 0.325879 0.6498 Uncertain 2_47348347_C->T 2 47348347 47348347 C T snp 1980.77 1/1 99 82 0 82 1.0 intronic rs1880583 C2orf61 AU NM_001163561 exon3 c.42933-8732C>T 0.713458 0.9425 Uncertain 2_47357458_A->G 2 47357458 47357458 A G snp 4997.77 1/1 99 188 1 187 0.99 intronic rs58184321 C2orf61 AU NM_173649 exon2 c.335+59A>G 0.707069 0.9296 0.653088 Uncertain 2_47357564_A->T 2 47357564 47357564 A T snp 556.77 1/1 42 15 0 15 1.0 intronic rs59073987 C2orf61 AU NM_173649 exon2 c.335+165A>T 0.584864 0.7351 Uncertain 2_47380203_T->C 2 47380203 47380203 T C snp 1002.77 1/1 72 39 0 39 1.0 intronic rs815809 C2orf61 AU NM_173649 exon4 c.23091+48T>C 0.627596 0.8938 0.626943 0.7283 0.8948 Uncertain 2_47382214_C->G 2 47382214 47382214 C G snp 2088.77 1/1 99 61 0 61 1.0 intronic rs815806 C2orf61 AU NM_173649 exon5 c.25245-95C>G 0.99381 1 Uncertain 2_47390026_C->T 2 47390026 47390026 C T snp 176.9 1/1 15 5 0 5 1.0 intronic rs1027478 CALM2 AD NM_001743 exon4 c.1887+225C>T 0.472444 0.7083 Uncertain 2_47403652_A->C 2 47403652 47403652 A C snp 729.77 0/1 99 53 22 31 0.58 UTR5 CALM2 AD Uncertain 2_47597029_C->A 2 47597029 47597029 C A snp 982.77 0/1 99 73 35 38 0.52 intronic rs75517655 EPCAM AU,AR NM_002354 exon1 c.76+309C>A 0.0565096 0.13 Uncertain 2_47601106_T->C 2 47601106 47601106 T C snp 4120.77 1/1 99 152 0 152 1.0 exonic rs1126497 EPCAM AU,AR nonsynonymous SNV NM_002354 exon3 c.T344C p.M115T 0.666134 0.8323 0.566738 0.5198 0.8267 1 T 0.0 P -0.934 T 0.0 T 0.0 T CLINSIG=non-pathogenic;CLNDBN=Hereditary_cancer-predisposing_syndrome;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000162369.1;CLNDSDB=MedGen:SNOMED_CT;CLNDSDBID=C0027672:699346009 ID=CM1110060;DIS=Breast cancer, increased risk, association with;TAG=DP;PUB=20683652 DP Pathogenic 2_47605097_C->T 2 47605097 47605097 C T snp 158.9 1/1 15 6 0 6 1.0 intronic rs28609437 EPCAM AU,AR NM_002354 exon5 c.7572+881C>T 0.308307 0.5635 Uncertain 2_47612224_C->T 2 47612224 47612224 C T snp 1186.77 1/1 84 48 0 48 1.0 intronic rs7584256 EPCAM AU,AR NM_002354 exon8 c.15660-80C>T 0.360823 0.5615 Uncertain 2_47630550_C->G 2 47630550 47630550 C G snp 1198.77 1/1 87 45 0 45 1.0 intronic rs2303426 MSH2 AR,AD NM_000251 exon1 c.211+9C>G 0.628395 0.8145 0.475875 0.5047 0.8049 CLINSIG=non-pathogenic|non-pathogenic|non-pathogenic;CLNDBN=Lynch_syndrome|not_specified|Lynch_syndrome_I;CLNREVSTAT=exp|criteria_provided\x2c_multiple_submitters\x2c_no_conflicts|no_assertion_criteria_provided;CLNACC=RCV000030249.3|RCV000035360.6|RCV000144620.1;CLNDSDB=GeneReviews:MedGen:SNOMED_CT|MedGen|GeneReviews:MedGen:OMIM:Orphanet;CLNDSDBID=NBK1211:C0009405:315058005|CN169374|NBK1211:C2936783:120435:ORPHA144 Uncertain 2_47630639_T->C 2 47630639 47630639 T C snp 409.77 1/1 33 11 0 11 1.0 intronic rs3815865 MSH2 AR,AD NM_000251 exon1 c.211+98T>C 0.627196 0.8135 CLINSIG=non-pathogenic;CLNDBN=Lynch_syndrome;CLNREVSTAT=exp;CLNACC=RCV000076393.2;CLNDSDB=GeneReviews:MedGen:SNOMED_CT;CLNDSDBID=NBK1211:C0009405:315058005 Uncertain 2_47656801_G->A 2 47656801 47656801 G A snp 90.28 1/1 9 3 0 3 1.0 intronic rs2347794 MSH2 AR,AD NM_000251 exon7 c.26550-79G>A 0.59365 0.6875 CLINSIG=non-pathogenic;CLNDBN=Lynch_syndrome;CLNREVSTAT=exp;CLNACC=RCV000030237.3;CLNDSDB=GeneReviews:MedGen:SNOMED_CT;CLNDSDBID=NBK1211:C0009405:315058005 Uncertain 2_47672569_G->A 2 47672569 47672569 G A snp 383.77 1/1 30 10 0 10 1.0 intronic rs1981929 MSH2 AR,AD NM_000251 exon8 c.42356-117G>A 0.794728 0.8651 CLINSIG=non-pathogenic;CLNDBN=Lynch_syndrome;CLNREVSTAT=exp;CLNACC=RCV000076095.2;CLNDSDB=GeneReviews:MedGen:SNOMED_CT;CLNDSDBID=NBK1211:C0009405:315058005 Uncertain 2_47690375_A->G 2 47690375 47690375 A G snp 521.77 0/1 99 50 26 24 0.48 intronic rs3771277 MSH2 AR,AD NM_000251 exon9 c.59963+82A>G 0.000199681 0.001 Uncertain 2_47690404_T->C 2 47690404 47690404 T C snp 868.77 1/1 63 33 0 33 1.0 intronic rs3771278 MSH2 AR,AD NM_000251 exon9 c.59963+111T>C 0.541134 0.6617 Uncertain 2_47690408_A->G 2 47690408 47690408 A G snp 736.81 1/1 20 30 1 29 0.97 intronic rs3771279 MSH2 AR,AD NM_000251 exon9 c.59963+115A>G 0.469249 0.6587 Uncertain 2_47690411_T->C 2 47690411 47690411 T C snp 783.77 1/1 57 29 0 29 1.0 intronic rs3771280 MSH2 AR,AD NM_000251 exon9 c.59963+118T>C 0.541134 0.6617 Uncertain 2_47693706_G->T 2 47693706 47693706 G T snp 315.78 1/1 24 12 0 12 1.0 intronic rs3732182 MSH2 AR,AD NM_000251 exon10 c.63466-90G>T 0.483027 0.6548 CLINSIG=non-pathogenic;CLNDBN=Lynch_syndrome;CLNREVSTAT=exp;CLNACC=RCV000076185.2;CLNDSDB=GeneReviews:MedGen:SNOMED_CT;CLNDSDBID=NBK1211:C0009405:315058005 Uncertain 2_47693959_G->A 2 47693959 47693959 G A snp 303.78 1/1 24 9 0 9 1.0 intronic rs3732183 MSH2 AR,AD NM_000251 exon10 c.63617+12G>A 0.483427 0.6548 0.378674 0.3501 0.6577 CLINSIG=non-pathogenic|non-pathogenic|non-pathogenic|non-pathogenic;CLNDBN=Lynch_syndrome|not_specified|Hereditary_cancer-predisposing_syndrome|Lynch_syndrome_I;CLNREVSTAT=exp|criteria_provided\x2c_multiple_submitters\x2c_no_conflicts|criteria_provided\x2c_single_submitter|no_assertion_criteria_provided;CLNACC=RCV000030241.3|RCV000035358.6|RCV000132147.1|RCV000144614.1;CLNDSDB=GeneReviews:MedGen:SNOMED_CT|MedGen|MedGen:SNOMED_CT|GeneReviews:MedGen:OMIM:Orphanet;CLNDSDBID=NBK1211:C0009405:315058005|CN169374|C0027672:699346009|NBK1211:C2936783:120435:ORPHA144 Uncertain 2_47698308_A->G 2 47698308 47698308 A G snp 384.77 1/1 30 11 0 11 1.0 intronic rs3764959 MSH2 AR,AD NM_000251 exon11 c.67871+107A>G 0.501398 0.6548 Uncertain 2_47698384_G->A 2 47698384 47698384 G A snp 50.74 1/1 6 2 0 2 1.0 intronic rs3764960 MSH2 AR,AD NM_000251 exon11 c.67871+183G>A 0.492612 0.6548 Uncertain 2_47703500_T->C 2 47703500 47703500 T C snp 1196.77 0/1 99 99 47 52 0.53 splicing rs2303428 MSH2 AR,AD NM_000251 exon13 c.73175-5T>C 0.131989 0.3631 0.072582 0.1155 0.3500 CLINSIG=non-pathogenic|non-pathogenic|non-pathogenic,unknown;CLNDBN=Lynch_syndrome|not_specified|Lynch_syndrome_I,Lynch_syndrome;CLNREVSTAT=exp|criteria_provided\x2c_multiple_submitters\x2c_no_conflicts|no_assertion_criteria_provided,exp;CLNACC=RCV000030247.3|RCV000035359.6|RCV000144621.1,RCV000076352.2;CLNDSDB=GeneReviews:MedGen:SNOMED_CT|MedGen|GeneReviews:MedGen:OMIM:Orphanet,GeneReviews:MedGen:SNOMED_CT;CLNDSDBID=NBK1211:C0009405:315058005|CN169374|NBK1211:C2936783:120435:ORPHA144,NBK1211:C0009405:315058005 ID=COSM133154;OCCURENCE=1(breast),1(stomach) ID=CS951474;DIS=High-grade dysplasia/cancer in ulcerative colitis, association;TAG=DP;PUB=7797014 DP Pathogenic 2_47739551_A->G 2 47739551 47739551 A G snp 1486.77 1/1 99 57 0 57 1.0 intergenic rs2303424 MSH2 AR,AD 0.527955 0.6756 0.429194 0.4579 0.6815 0.27 T 0.0 P -0.971 T 0.0 T 0.0 T CLINSIG=non-pathogenic|untested;CLNDBN=not_provided|not_specified;CLNREVSTAT=no_assertion_criteria_provided|no_assertion_provided;CLNACC=RCV000034801.1|RCV000122427.1;CLNDSDB=MedGen|MedGen;CLNDSDBID=CN221809|CN169374 Uncertain 2_47748292_A->G 2 47748292 47748292 A G snp 3901.77 1/1 99 125 0 125 1.0 exonic rs2278139 KCNK12 AU synonymous SNV NM_022055 exon2 c.T1047C p.G349G 0.591853 0.6756 0.5649 . Uncertain 2_47905390_C->A 2 47905390 47905390 C A snp 2017.77 0/1 99 141 55 86 0.61 intergenic rs17036817 KCNK12 AU 0.0808706 0.2937 0.0381 0.3030 CLINSIG=untested,untested;CLNDBN=not_specified,not_specified;CLNREVSTAT=no_assertion_provided,no_assertion_provided;CLNACC=RCV000122428.1,RCV000122429.1;CLNDSDB=MedGen,MedGen;CLNDSDBID=CN169374,CN169374 Uncertain 2_48010488_G->A 2 48010488 48010488 G A snp 2306.77 0/1 99 190 82 108 0.57 exonic rs1042821 MSH6 AU,AD,AR nonsynonymous SNV NM_000179 exon1 c.G116A p.G39E 0.200879 0.2758 0.179650 0.2141 0.2905 0.28 T 1.000 P -1.097 T 0.002 T 0.003 T CLINSIG=non-pathogenic|non-pathogenic|non-pathogenic|non-pathogenic|non-pathogenic;CLNDBN=Lynch_syndrome|not_provided|not_specified|Hereditary_cancer-predisposing_syndrome|Lynch_syndrome_I;CLNREVSTAT=exp|no_assertion_criteria_provided|criteria_provided\x2c_multiple_submitters\x2c_no_conflicts|criteria_provided\x2c_single_submitter|no_assertion_criteria_provided;CLNACC=RCV000030258.3|RCV000034489.1|RCV000035318.5|RCV000132091.2|RCV000144626.1;CLNDSDB=GeneReviews:MedGen:SNOMED_CT|MedGen|MedGen|MedGen:SNOMED_CT|GeneReviews:MedGen:OMIM:Orphanet;CLNDSDBID=NBK1211:C0009405:315058005|CN221809|CN169374|C0027672:699346009|NBK1211:C2936783:120435:ORPHA144 ID=COSM3749667;OCCURENCE=3(large_intestine),1(lung) ID=CM092149;DIS=Colorectal cancer, association with;TAG=DP;PUB=18523027 DP Pathogenic 2_48022900_A->G 2 48022900 48022900 A G snp 374.77 1/1 30 12 0 12 1.0 intronic rs3136316 MSH6 AU,AD,AR NM_000179 exon3 c.12660-132A>G 0.842851 0.8938 Uncertain 2_48022981_G->T 2 48022981 48022981 G T snp 626.77 0/1 99 45 17 28 0.62 intronic rs1800934 MSH6 AU,AD,AR NM_000179 exon3 c.12660-51G>T 0.224441 0.2718 0.226161 CLINSIG=non-pathogenic;CLNDBN=Lynch_syndrome;CLNREVSTAT=exp;CLNACC=RCV000075001.2;CLNDSDB=GeneReviews:MedGen:SNOMED_CT;CLNDSDBID=NBK1211:C0009405:315058005 Uncertain 2_48030458_G->C 2 48030458 48030458 G C snp 1173.77 1/1 84 41 0 41 1.0 intronic rs2072447 MSH6 AU,AD,AR NM_001281494 exon5 c.4530-100G>C 0.822484 0.8829 CLINSIG=non-pathogenic;CLNDBN=Lynch_syndrome;CLNREVSTAT=exp;CLNACC=RCV000074810.2;CLNDSDB=GeneReviews:MedGen:SNOMED_CT;CLNDSDBID=NBK1211:C0009405:315058005 Uncertain 2_48030692_T->A 2 48030692 48030692 T A snp 2707.77 0/1 99 249 135 114 0.46 exonic rs2020910 MSH6 AU,AD,AR synonymous SNV NM_000179 exon5 c.T3306A p.T1102T 0.0493211 0.2153 0.004459 0.0204 0.2103 CLINSIG=non-pathogenic|non-pathogenic|non-pathogenic;CLNDBN=Lynch_syndrome|not_specified|Hereditary_cancer-predisposing_syndrome;CLNREVSTAT=exp|criteria_provided\x2c_single_submitter|criteria_provided\x2c_single_submitter;CLNACC=RCV000030267.3|RCV000078313.3|RCV000162391.1;CLNDSDB=GeneReviews:MedGen:SNOMED_CT|MedGen|MedGen:SNOMED_CT;CLNDSDBID=NBK1211:C0009405:315058005|CN169374|C0027672:699346009 Uncertain 2_48030838_A->T 2 48030838 48030838 A T snp 1405.77 0/1 99 83 31 52 0.63 intronic rs2020911 MSH6 AU,AD,AR NM_001281494 exon5 c.4796+14A>T 0.400958 0.619 0.314624 0.4043 0.6168 CLINSIG=non-pathogenic|non-pathogenic|non-pathogenic;CLNDBN=not_specified|Lynch_syndrome|Hereditary_cancer-predisposing_syndrome;CLNREVSTAT=criteria_provided\x2c_multiple_submitters\x2c_no_conflicts|exp|criteria_provided\x2c_single_submitter;CLNACC=RCV000035324.5|RCV000074853.2|RCV000126833.2;CLNDSDB=MedGen|GeneReviews:MedGen:SNOMED_CT|MedGen:SNOMED_CT;CLNDSDBID=CN169374|NBK1211:C0009405:315058005|C0027672:699346009 Uncertain 2_48032312_G->A 2 48032312 48032312 G A snp 56.74 1/1 6 2 0 2 1.0 intronic rs7562048 MSH6 AU,AD,AR NM_001281494 exon6 c.6138+146G>A 0.672324 0.874 CLINSIG=non-pathogenic;CLNDBN=Lynch_syndrome;CLNREVSTAT=exp;CLNACC=RCV000074878.2;CLNDSDB=GeneReviews:MedGen:SNOMED_CT;CLNDSDBID=NBK1211:C0009405:315058005 Uncertain 2_48032613_G->A 2 48032613 48032613 G A snp 133.03 1/1 12 4 0 4 1.0 intronic rs7562367 MSH6 AU,AD,AR NM_001281494 exon7 c.6728-143G>A 0.769569 0.87 Uncertain 2_48032875_CTAT->- 2 48032875 48032878 CTAT - indel 1369.73 1/1 63 28 0 28 1.0 intronic rs2234731 MSH6 AU,AD,AR NM_001281494 exon7 c.6818+29_6818+32delCTAT 0.762181 0.87 0.6925 0.8683 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=Lynch_syndrome|not_specified;CLNREVSTAT=exp|no_assertion_criteria_provided;CLNACC=RCV000074897.2|RCV000078317.3;CLNDSDB=GeneReviews:MedGen:SNOMED_CT|MedGen;CLNDSDBID=NBK1211:C0009405:315058005|CN169374 Uncertain 2_48032937_T->C 2 48032937 48032937 T C snp 259.8 1/1 21 10 0 10 1.0 intronic rs3136359 MSH6 AU,AD,AR NM_001281494 exon7 c.6818+91T>C 0.814297 0.876 CLINSIG=non-pathogenic;CLNDBN=Lynch_syndrome;CLNREVSTAT=exp;CLNACC=RCV000074900.2;CLNDSDB=GeneReviews:MedGen:SNOMED_CT;CLNDSDBID=NBK1211:C0009405:315058005 Uncertain 2_48033551_C->G 2 48033551 48033551 C G snp 7242.77 1/1 99 248 1 247 1.0 intronic rs3136367 MSH6 AU,AD,AR NM_001281494 exon9 c.7562-39C>G 0.809105 0.8869 0.787219 0.7426 0.8813 CLINSIG=non-pathogenic;CLNDBN=Lynch_syndrome;CLNREVSTAT=exp;CLNACC=RCV000030272.3;CLNDSDB=GeneReviews:MedGen:SNOMED_CT;CLNDSDBID=NBK1211:C0009405:315058005 Uncertain 2_48040784_C->T 2 48040784 48040784 C T snp 270.77 0/1 99 29 18 11 0.38 intronic rs151334440 FBXO11 AU NM_025133 exon7 c.5673-145C>T 0.0587061 0.254 Uncertain 2_48040904_-->A 2 48040904 48040904 - A indel 2156.73 0/1 99 144 64 80 0.56 intronic rs373765859 FBXO11 AU NM_025133 exon7 c.5673-25insA 0.91254 0.8155 0.962774 0.9331 0.8091 Uncertain 2_48734576_G->A 2 48734576 48734576 G A snp 3137.77 1/1 99 120 0 120 1.0 intronic rs6716341 PPP1R21 AU NM_001193475 exon17 c.66432+52G>A 1 1 0.9999 1 Uncertain 2_48756682_C->G 2 48756682 48756682 C G snp 741.77 1/1 54 26 0 26 1.0 upstream rs34461314 STON1 AU 0.261581 0.751 0.144362 0.2439 0.7503 Uncertain 2_48822381_G->A 2 48822381 48822381 G A snp 1551.77 0/1 99 132 65 67 0.51 exonic rs2140551 STON1 AU synonymous SNV NM_006873 exon4 c.G2148A p.K716K 0.485623 0.5575 0.472782 0.5226 0.5500 Uncertain 2_48822540_T->C 2 48822540 48822540 T C snp 1094.77 0/1 99 95 48 47 0.49 UTR3 rs7574549 STON1 AU 0.244609 0.3611 Uncertain 2_48844968_C->G 2 48844968 48844968 C G snp 3263.77 1/1 99 111 0 111 1.0 UTR5 rs2293269 GTF2A1L AU 0.648762 0.9315 0.629561 0.6361 0.9223 Uncertain 2_48873978_A->G 2 48873978 48873978 A G snp 3204.83 0/1 99 240 110 130 0.54 exonic rs10432667 GTF2A1L AU nonsynonymous SNV NM_001193487 exon5 c.A673G p.N225D 0.202476 0.2768 0.222743 0.2345 0.2939 0.74 T 0.0 P -0.988 T 0.241 T 0.096 T Pathogenic 2_48898798_T->A 2 48898798 48898798 T A snp 2186.77 1/1 99 85 0 85 1.0 exonic rs3920390 GTF2A1L AU synonymous SNV NM_001193487 exon7 c.T1206A p.V402V 0.985024 1 0.978625 0.9739 0.9999 Uncertain 2_48906625_T->C 2 48906625 48906625 T C snp 1629.77 1/1 99 65 0 65 1.0 UTR3 rs1965508 GTF2A1L AU 0.985224 1 0.978471 0.9741 0.9999 Uncertain 2_48915871_A->G 2 48915871 48915871 A G snp 5879.77 1/1 99 209 0 209 1.0 exonic rs11125179 LHCGR AU,AD,AR synonymous SNV NM_000233 exon11 c.T1065C p.D355D 0.592252 0.9236 0.496694 0.6026 0.9301 Uncertain 2_48921375_T->C 2 48921375 48921375 T C snp 1945.77 1/1 99 69 1 68 0.99 exonic rs2293275 LHCGR AU,AD,AR nonsynonymous SNV NM_000233 exon10 c.A935G p.N312S 0.591054 0.9276 0.491224 0.6376 0.9309 0.208 P -0.985 T 0.004 T 0.003 T ID=CM125685;DIS=Polycystic ovary syndrome, increased risk;TAG=DP;PUB=22356187 DP Pathogenic 2_48925987_T->- 2 48925987 48925987 T - indel 248.73 1/1 33 21 0 21 1.0 intronic rs70946824 LHCGR AU,AD,AR NM_000233 exon3 c.11104+48delT 0.938099 0.9335 0.8217 0.8511 Uncertain 2_48952701_C->G 2 48952701 48952701 C G snp 394.77 1/1 30 11 0 11 1.0 intronic rs6545063 LHCGR AU,AD,AR NM_000233 exon8 c.37979-113C>G 0.992412 1 Uncertain 2_48956431_T->A 2 48956431 48956431 T A snp 982.77 0/1 99 81 39 42 0.52 intronic rs11892719 LHCGR AU,AD,AR NM_000233 exon9 c.41531+65T>A 0.605232 0.63 0.580850 Uncertain 2_48956475_C->T 2 48956475 48956475 C T snp 598.77 0/1 99 57 29 28 0.49 intronic rs11887058 LHCGR AU,AD,AR NM_000233 exon9 c.41531+109C>T 0.449281 0.628 Uncertain 2_48956512_A->G 2 48956512 48956512 A G snp 363.77 0/1 99 36 19 17 0.47 intronic rs11897846 LHCGR AU,AD,AR NM_000233 exon9 c.41531+146A>G 0.452077 0.628 Uncertain 2_48960032_G->A 2 48960032 48960032 G A snp 2310.77 0/1 99 206 108 98 0.48 intronic rs10495960 LHCGR AU,AD,AR NM_000233 exon10 c.43602+1595G>A 0.154353 0.3264 0.123190 0.1733 0.3192 0.0 P -0.958 T Uncertain 2_48982485_T->C 2 48982485 48982485 T C snp 49.78 0/1 27 4 1 3 0.75 intronic rs4073367 LHCGR AU,AD,AR NM_000233 exon11 c.67814-164T>C 0.311102 0.4008 Uncertain 2_48982622_C->G 2 48982622 48982622 C G snp 210.77 0/1 99 19 10 9 0.47 intronic rs4073366 LHCGR AU,AD,AR NM_000233 exon11 c.67814-27C>G 0.174521 0.3363 0.106367 0.1178 0.3436 Uncertain 2_48982868_C->A 2 48982868 48982868 C A snp 40.77 0/1 69 6 4 2 0.33 UTR5 rs10176989 LHCGR AU,AD,AR 0.256589 0.2698 Uncertain 2_49189921_C->T 2 49189921 49189921 C T snp 4490.77 1/1 99 165 0 165 1.0 exonic rs6166 FSHR AR,AD nonsynonymous SNV NM_000145 exon10 c.G2039A p.S680N 0.592652 0.6776 0.558204 0.5727 0.6765 0.0 P -0.922 T 0.0 T 0.001 T CLINSIG=drug-response|other;CLNDBN=Ovarian_response_to_FSH_stimulation|Ovarian_hyperstimulation_syndrome;CLNREVSTAT=no_assertion_criteria_provided|no_assertion_criteria_provided;CLNACC=RCV000017634.3|RCV000017635.4;CLNDSDB=MedGen|MedGen:OMIM:SNOMED_CT;CLNDSDBID=C1848715|C0085083:608115:129635004 ID=CM052876;DIS=Menstrual cycle, length, association with;TAG=DFP;PUB=15886248 DFP Pathogenic 2_49191041_C->T 2 49191041 49191041 C T snp 1619.77 1/1 99 57 0 57 1.0 exonic rs6165 FSHR AR,AD nonsynonymous SNV NM_000145 exon10 c.G919A p.A307T 0.492212 0.6597 0.454636 0.5446 0.6596 0.0 P -0.926 T 0.002 T 0.006 T CLINSIG=drug-response;CLNDBN=Ovarian_response_to_FSH_stimulation;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000017633.2;CLNDSDB=MedGen;CLNDSDBID=C1848715 ID=CM062747;DIS=Ovarian cancer susceptibility, association with;TAG=DP;PUB=16574671 DP Pathogenic 2_49215977_G->A 2 49215977 49215977 G A snp 1078.77 1/1 78 34 0 34 1.0 intronic rs2072488 FSHR AR,AD NM_000145 exon5 c.26244-138G>A 0.714257 0.6954 Uncertain 2_49216284_C->T 2 49216284 49216284 C T snp 337.78 1/1 27 9 0 9 1.0 intronic rs2072487 FSHR AR,AD NM_000145 exon5 c.26322+91C>T 0.711062 0.6935 Uncertain 2_49217916_T->G 2 49217916 49217916 T G snp 185.77 0/1 99 12 6 6 0.5 intronic rs2072486 FSHR AR,AD NM_000145 exon6 c.27905+140T>G 0.383387 0.4226 Uncertain 2_49241849_G->A 2 49241849 49241849 G A snp 779.77 1/1 57 25 0 25 1.0 intronic rs6708637 FSHR AR,AD NM_000145 exon7 c.54756-2778G>A 0.502396 0.4643 Uncertain 2_49244559_A->G 2 49244559 49244559 A G snp 2620.77 1/1 99 90 0 90 1.0 intronic rs2091787 FSHR AR,AD NM_000145 exon7 c.54756-68A>G 0.608027 0.7827 Uncertain 2_49295168_G->A 2 49295168 49295168 G A snp 40.77 0/1 69 5 3 2 0.4 intronic rs72822006 FSHR AR,AD NM_000145 exon9 c.105486-189G>A 0.100439 0.2014 Uncertain 2_49381253_T->C 2 49381253 49381253 T C snp 474.77 0/1 99 31 13 18 0.58 intronic rs7589810 FSHR AR,AD NM_000145 exon10 c.191533-151T>C 0.162939 0.2004 Uncertain 2_49381585_C->T 2 49381585 49381585 C T snp 43.77 0/1 72 6 3 3 0.5 UTR5 rs1394205 FSHR AR,AD 0.345048 0.4732 0.259111 0.3160 0.4878 CLINSIG=non-pathogenic;CLNDBN=not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000125157.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 ID=CR066328;DIS=Hypertension, female, association with;TAG=DFP;PUB=16864747 DFP Uncertain 2_49510173_A->C 2 49510173 49510173 A C snp 1826.77 0/1 99 170 91 79 0.46 intergenic rs7578654 FSHR AR,AD 0.451078 0.4107 0.444541 0.4275 0.3880 Uncertain 2_50201110_A->G 2 50201110 50201110 A G snp 3201.82 1/1 99 118 2 116 0.98 intronic rs9636391 NRXN1 AR,AU NM_004801 exon2 c.21848+30181A>G 0.814297 0.7907 0.8501 0.7688 1.0 P -1.050 T Uncertain 2_50280283_T->C 2 50280283 50280283 T C snp 330.78 1/1 27 10 0 10 1.0 intronic rs1363050 NRXN1 AR,AU NM_004801 exon3 c.131327-125T>C 0.738419 0.6429 Uncertain 2_50280338_G->A 2 50280338 50280338 G A snp 806.77 1/1 60 29 0 29 1.0 intronic rs1363049 NRXN1 AR,AU NM_004801 exon3 c.131327-70G>A 0.58726 0.6419 Uncertain 2_50318661_G->C 2 50318661 50318661 G C snp 1094.77 0/1 99 98 46 52 0.53 intronic rs74387895 NRXN1 AR,AU NM_004801 exon4 c.169551+29G>C 0.0163738 0.0546 0.000846 0.0142 0.0720 Uncertain 2_50434741_C->T 2 50434741 50434741 C T snp 342.77 0/1 99 37 21 16 0.43 intronic rs17040210 NRXN1 AR,AU NM_004801 exon5 c.314845-29185C>T 0.338458 0.4048 Uncertain 2_50434759_C->G 2 50434759 50434759 C G snp 1141.77 1/1 81 43 0 43 1.0 intronic rs1715984 NRXN1 AR,AU NM_004801 exon5 c.314845-29167C>G 0.865815 0.8065 Uncertain 2_50540027_A->G 2 50540027 50540027 A G snp 216.77 0/1 99 15 8 7 0.47 intronic rs10203511 NRXN1 AR,AU NM_138735 exon6 c.424747-33801A>G 0.370807 0.5367 Uncertain 2_50692459_T->A 2 50692459 50692459 T A snp 307.77 0/1 99 16 7 9 0.56 intronic rs12713101 NRXN1 AR,AU NM_004801 exon6 c.543498-120T>A 0.240615 0.0724 Uncertain 2_50692560_A->G 2 50692560 50692560 A G snp 652.77 0/1 99 69 41 28 0.41 intronic rs3213756 NRXN1 AR,AU NM_004801 exon6 c.543498-19A>G 0.338059 0.4474 0.246905 0.3834 0.5049 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000079526.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 2_50692819_T->G 2 50692819 50692819 T G snp 609.77 1/1 45 19 0 19 1.0 intronic rs10168838 NRXN1 AR,AU NM_004801 exon6 c.543618+120T>G 0.899361 0.6865 Uncertain 2_50693505_AC->- 2 50693505 50693506 AC - indel 2270.73 1/1 99 45 0 45 1.0 intronic rs3052514 NRXN1 AR,AU NM_004801 exon6 c.543618+806_543618+807delAC 0.549321 0.4881 Uncertain 2_50699305_T->A 2 50699305 50699305 T A snp 303.78 1/1 24 8 0 8 1.0 intronic rs2075234 NRXN1 AR,AU NM_004801 exon7 c.550354-130T>A 0.526957 0.4911 Uncertain 2_50733545_G->T 2 50733545 50733545 G T snp 1543.77 0/1 99 118 56 62 0.53 intronic rs13008919 NRXN1 AR,AU NM_004801 exon10 c.584551-87G>T 0.213458 0.378 Uncertain 2_50733860_A->G 2 50733860 50733860 A G snp 1329.77 1/1 96 42 0 42 1.0 intronic rs7584062 NRXN1 AR,AU NM_004801 exon10 c.584674+105A>G 0.999401 1 Uncertain 2_50758657_T->C 2 50758657 50758657 T C snp 767.77 1/1 57 22 0 22 1.0 intronic rs2066948 NRXN1 AR,AU NM_004801 exon12 c.609487+89T>C 0.853235 0.6905 Uncertain 2_50858107_T->A 2 50858107 50858107 T A snp 1512.77 1/1 99 56 0 56 1.0 intronic rs961405 NRXN1 AR,AU NM_004801 exon18 c.709155-129T>A 0.556909 0.6657 Uncertain 2_50966283_C->T 2 50966283 50966283 C T snp 949.77 1/1 69 32 0 32 1.0 intronic rs1546667 NRXN1 AR,AU NM_004801 exon18 c.709162+108040C>T 0.877995 0.8343 Uncertain 2_51148872_T->A 2 51148872 51148872 T A snp 71.77 0/1 99 11 6 5 0.45 intronic rs36106628 NRXN1 AR,AU NM_004801 exon19 c.1000711-920T>A 0.175519 0.1548 Uncertain 2_51206342_C->G 2 51206342 51206342 C G snp 1509.77 0/1 99 96 37 59 0.61 intronic rs35296842 NRXN1 AR,AU NM_001135659 exon22 c.1104427-47166C>G 0.180511 0.1677 Uncertain 2_53920931_G->A 2 53920931 53920931 G A snp 515.77 0/1 99 42 20 22 0.52 intronic rs7563054 ASB3 AU NM_145863 exon2 c.23381-89G>A 0.438698 0.628 Uncertain 2_53921270_C->T 2 53921270 53921270 C T snp 40.77 0/1 69 6 4 2 0.33 intronic rs3731970 ASB3 AU NM_145863 exon2 c.23512+119C>T 0.270367 0.4593 Uncertain 2_53943604_A->G 2 53943604 53943604 A G snp 279.77 0/1 99 30 17 13 0.43 intronic ASB3 AU NM_145863 exon5 c.46063-98A>G Uncertain 2_53943696_C->T 2 53943696 53943696 C T snp 1489.77 0/1 99 145 82 63 0.43 intronic rs3213768 ASB3 AU NM_145863 exon5 c.46063-6C>T 0.133187 0.2986 0.041981 0.0725 0.2731 Uncertain 2_53955741_C->T 2 53955741 53955741 C T snp 181.77 0/1 99 11 5 6 0.55 intronic rs77366072 ASB3 AU NM_145863 exon6 c.58209-107C>T 0.130591 0.3016 Uncertain 2_53990532_C->T 2 53990532 53990532 C T snp 1090.77 0/1 99 104 55 49 0.47 intronic rs13397311 ASB3 AU NM_016115 exon9 c.94874-1981C>T 0.366214 0.5744 Uncertain 2_53992593_A->T 2 53992593 53992593 A T snp 3574.77 0/1 99 250 114 136 0.54 exonic rs2287339 ASB3 AU synonymous SNV NM_001164165 exon2 c.T231A p.A77A 0.112021 0.2966 0.021529 0.0611 0.2743 Uncertain 2_54014558_G->T 2 54014558 54014558 G T snp 1877.77 0/1 99 158 82 76 0.48 intronic rs2287342 ERLEC1 AU NM_001127397 exon1 c.162+49G>T 0.124201 0.2887 0.041366 0.0664 0.2733 Uncertain 2_54023248_T->- 2 54023248 54023248 T - indel 91.14 0/1 10 10 1 9 0.9 intronic rs72502136 ERLEC1 AU NM_001127397 exon3 c.8803+98delT 0.559305 0.6329 Uncertain 2_54024626_C->T 2 54024626 54024626 C T snp 459.77 0/1 99 41 19 22 0.54 intronic rs2692514 ERLEC1 AU NM_001127397 exon4 c.10304-25C>T 0.480032 0.4692 0.436942 0.4411 0.4616 Uncertain 2_54035650_G->A 2 54035650 54035650 G A snp 451.77 0/1 99 29 13 16 0.55 intronic rs2287346 ERLEC1 AU NM_001127397 exon9 c.21250+53G>A 0.11901 0.2937 Uncertain 2_54041983_G->T 2 54041983 54041983 G T snp 538.77 0/1 99 63 35 28 0.44 intronic rs2542571 ERLEC1 AU NM_001127397 exon12 c.27649-13G>T 0.486222 0.4692 0.456936 0.4366 0.4446 Uncertain 2_54076140_C->T 2 54076140 54076140 C T snp 40.77 0/1 69 7 5 2 0.29 intronic rs77165949 GPR75-ASB3 AU NM_001164165 exon10 c.189325-10824C>T 0.133387 0.3135 Uncertain 2_54102991_T->C 2 54102991 54102991 T C snp 83.77 0/1 30 4 1 3 0.75 intronic rs72799242 PSME4 AU NM_014614 exon6 c.9667+99T>C 0.139177 0.3185 Uncertain 2_54114967_G->A 2 54114967 54114967 G A snp 1070.77 0/1 99 100 55 45 0.45 intronic rs805399 PSME4 AU NM_014614 exon9 c.21769-27G>A 0.346446 0.4742 0.270414 0.3217 0.4442 Uncertain 2_54115904_A->G 2 54115904 54115904 A G snp 1486.77 0/1 99 161 91 70 0.43 exonic rs805400 PSME4 AU synonymous SNV NM_014614 exon38 c.T4342C p.L1448L 0.352037 0.4742 0.278026 0.3295 0.4441 Uncertain 2_54116003_C->T 2 54116003 54116003 C T snp 572.77 0/1 99 67 45 22 0.33 intronic rs805401 PSME4 AU NM_014614 exon10 c.22724+54C>T 0.351438 0.4742 0.272011 Uncertain 2_54120025_A->T 2 54120025 54120025 A T snp 1738.77 0/1 99 139 66 73 0.53 exonic rs805408 PSME4 AU nonsynonymous SNV NM_014614 exon36 c.T4111A p.S1371T 0.349241 0.4742 0.271106 0.3204 0.4431 0.53 T 1.000 P -1.005 T 0.003 T 0.006 T Pathogenic 2_54120204_A->G 2 54120204 54120204 A G snp 120.77 0/1 69 7 3 4 0.57 intronic rs805409 PSME4 AU NM_014614 exon12 c.26872+107A>G 0.350639 0.4742 Uncertain 2_54120820_G->A 2 54120820 54120820 G A snp 587.77 0/1 99 62 33 29 0.47 exonic rs805412 PSME4 AU synonymous SNV NM_014614 exon35 c.C4029T p.C1343C 0.573083 0.7312 0.455448 0.4835 0.7110 Uncertain 2_54122646_C->T 2 54122646 54122646 C T snp 188.77 0/1 99 10 4 6 0.6 intronic rs2302876 PSME4 AU NM_014614 exon15 c.29494-73C>T 0.134185 0.3165 Uncertain 2_54122956_A->G 2 54122956 54122956 A G snp 1567.77 1/1 99 45 0 45 1.0 intronic rs698856 PSME4 AU NM_014614 exon15 c.29648+83A>G 0.823482 0.9405 Uncertain 2_54122984_C->T 2 54122984 54122984 C T snp 319.77 0/1 99 22 12 10 0.45 intronic rs698857 PSME4 AU NM_014614 exon15 c.29648+111C>T 0.344848 0.4732 Uncertain 2_54124901_T->C 2 54124901 54124901 T C snp 68.77 0/1 97 8 5 3 0.38 intronic rs80145461 PSME4 AU NM_014614 exon17 c.31781-105T>C 0.123602 0.3165 Uncertain 2_54125258_T->C 2 54125258 54125258 T C snp 224.77 0/1 99 16 8 8 0.5 intronic rs805416 PSME4 AU NM_014614 exon17 c.31911+122T>C 0.484225 0.4851 Uncertain 2_54125495_T->C 2 54125495 54125495 T C snp 401.77 0/1 99 36 19 17 0.47 splicing rs805417 PSME4 AU NM_014614 exon18 c.32266+4T>C 0.347244 0.4732 0.269426 0.3424 0.4598 Pathogenic 2_54127041_C->T 2 54127041 54127041 C T snp 1040.77 0/1 99 98 53 45 0.46 exonic rs805423 PSME4 AU synonymous SNV NM_014614 exon29 c.G3399A p.Q1133Q 0.608626 0.7331 0.518761 0.5309 0.7135 Uncertain 2_54135429_G->C 2 54135429 54135429 G C snp 663.77 0/1 99 61 34 27 0.44 intronic rs805319 PSME4 AU NM_014614 exon24 c.42231-27G>C 0.351438 0.4692 0.275392 0.3676 0.4631 Uncertain 2_54135936_T->C 2 54135936 54135936 T C snp 707.77 0/1 99 58 25 33 0.57 exonic rs2302878 PSME4 AU nonsynonymous SNV NM_014614 exon22 c.A2614G p.I872V 0.105232 0.2163 0.036792 0.0613 0.2153 0.11 T 1.0 P -1.110 T 0.001 T 0.002 T Pathogenic 2_54137136_A->G 2 54137136 54137136 A G snp 570.77 0/1 99 54 32 22 0.41 intronic rs2056650 PSME4 AU NM_014614 exon27 c.43986-75A>G 0.1252 0.3185 Uncertain 2_54150079_A->T 2 54150079 54150079 A T snp 179.77 0/1 58 8 2 6 0.75 intronic rs3213774 PSME4 AU NM_014614 exon32 c.56960-106A>T 0.122005 0.3115 Uncertain 2_54152927_T->C 2 54152927 54152927 T C snp 528.77 0/1 99 35 17 18 0.51 intronic rs2302879 PSME4 AU NM_014614 exon34 c.59601+101T>C 0.351637 0.4752 Uncertain 2_54155240_A->G 2 54155240 54155240 A G snp 687.77 0/1 99 73 40 33 0.45 intronic rs805349 PSME4 AU NM_014614 exon37 c.62028-13A>G 0.35643 0.4762 0.284177 0.3318 0.4479 Uncertain 2_54158957_C->T 2 54158957 54158957 C T snp 919.77 0/1 99 69 33 36 0.52 intronic rs805352 PSME4 AU NM_014614 exon38 c.65746-14C>T 0.34984 0.4772 0.276565 0.3282 0.4489 Uncertain 2_54161885_G->T 2 54161885 54161885 G T snp 398.77 0/1 99 40 23 17 0.42 intronic rs805357 PSME4 AU NM_014614 exon40 c.68639+21G>T 0.347244 0.4782 0.262100 0.3246 0.4281 Uncertain 2_54175763_T->C 2 54175763 54175763 T C snp 113.78 0/1 27 6 1 5 0.83 intronic rs2302880 PSME4 AU NM_014614 exon45 c.82449+89T>C 0.121805 0.3185 Uncertain 2_54342955_G->A 2 54342955 54342955 G A snp 374.77 0/1 99 32 15 17 0.53 intronic rs2287641 ACYP2 AU NM_138448 exon1 c.58+62G>A 0.132588 0.2937 0.070521 Uncertain 2_54342974_A->T 2 54342974 54342974 A T snp 302.77 0/1 99 25 13 12 0.48 intronic rs2287640 ACYP2 AU NM_138448 exon1 c.58+81A>T 0.132188 0.2937 Uncertain 2_54343012_C->A 2 54343012 54343012 C A snp 222.77 0/1 99 19 10 9 0.47 intronic rs7573491 ACYP2 AU NM_138448 exon1 c.58+119C>A 0.605232 0.7331 Uncertain 2_54362437_T->C 2 54362437 54362437 T C snp 176.77 0/1 99 16 8 8 0.5 intronic rs2357954 ACYP2 AU NM_138448 exon2 c.19754-152T>C 0.547724 0.7341 Uncertain 2_54362645_T->C 2 54362645 54362645 T C snp 697.77 0/1 99 61 30 31 0.51 intronic rs78531993 ACYP2 AU NM_138448 exon2 c.19771+39T>C 0.120407 0.2956 0.045776 0.0935 0.3007 Uncertain 2_54362726_A->G 2 54362726 54362726 A G snp 736.77 0/1 99 45 11 34 0.76 intronic rs13417064 ACYP2 AU NM_138448 exon2 c.19771+120A>G 0.13758 0.2956 Uncertain 2_54369121_TGTG->- 2 54369121 54369124 TGTG - indel 699.73 0/1 99 25 7 18 0.72 intronic rs146726231 ACYP2 AU NM_138448 exon3 c.23050+3236_23050+3239delTGTG Uncertain 2_54369155_TTGTTGTTG->- 2 54369155 54369163 TTGTTGTTG - indel 932.73 0/1 99 18 2 16 0.89 intronic rs146513137 ACYP2 AU NM_138448 exon3 c.23050+3270_23050+3278delTTGTTGTTG Uncertain 2_54494370_A->G 2 54494370 54494370 A G snp 827.77 1/1 60 29 0 29 1.0 intronic rs865816 ACYP2 AU NM_138448 exon4 c.188989-37454A>G 0.997005 1 Uncertain 2_54557360_A->G 2 54557360 54557360 A G snp 2108.77 1/1 99 67 0 67 1.0 upstream rs59595339 C2orf73 AU 0.0916534 0.2569 0.1003 0.3 Uncertain 2_54571147_C->T 2 54571147 54571147 C T snp 99.28 1/1 9 3 0 3 1.0 intronic rs3813463 C2orf73 AU NM_001100396 exon3 c.12898+137C>T 0.701278 0.6468 Uncertain 2_54587596_C->T 2 54587596 54587596 C T snp 3361.77 1/1 99 126 0 126 1.0 exonic rs2280718 C2orf73 AU nonsynonymous SNV NM_001100396 exon5 c.C761T p.P254L 0.676717 0.6429 0.761328 0.7586 0.7153 0.002 P -0.977 T 0.385 T 0.161 T Pathogenic 2_54839276_A->G 2 54839276 54839276 A G snp 1240.77 0/1 99 125 73 52 0.42 intronic rs3796014 SPTBN1 AU NM_003128 exon4 c.85742-21A>G 0.7502 0.5179 0.800707 0.7465 0.5636 Uncertain 2_54843214_A->G 2 54843214 54843214 A G snp 80.78 0/1 24 4 1 3 0.75 intronic rs3796012 SPTBN1 AU NM_003128 exon5 c.89788-129A>G 0.257788 0.3075 Uncertain 2_54844911_G->A 2 54844911 54844911 G A snp 464.77 0/1 99 44 25 19 0.43 intronic rs72618664 SPTBN1 AU NM_003128 exon6 c.91270+86G>A 0.283746 0.3105 Uncertain 2_54855137_T->C 2 54855137 54855137 T C snp 812.77 0/1 99 85 49 36 0.42 intronic rs2971887 SPTBN1 AU NM_003128 exon13 c.101678-96T>C 0.756589 0.5198 Uncertain 2_54858511_C->T 2 54858511 54858511 C T snp 3166.77 0/1 99 250 126 124 0.5 exonic rs1052788 SPTBN1 AU synonymous SNV NM_178313 exon15 c.C3288T p.N1096N 0.240415 0.2788 0.231355 0.3090 0.2937 Uncertain 2_54885314_A->T 2 54885314 54885314 A T snp 46.77 0/1 33 3 1 2 0.67 intronic rs2941586 SPTBN1 AU NM_003128 exon30 c.131628+131A>T 0.740615 0.5129 Uncertain 2_54886347_G->A 2 54886347 54886347 G A snp 1746.77 0/1 99 140 65 75 0.54 exonic rs1052820 SPTBN1 AU synonymous SNV NM_178313 exon30 c.G6261A p.P2087P 0.278155 0.2877 0.275950 0.3276 0.3008 Uncertain 2_54893237_C->T 2 54893237 54893237 C T snp 601.77 0/1 99 61 37 24 0.39 intronic rs3817163 SPTBN1 AU NM_003128 exon34 c.139670+12C>T 0.249401 0.2946 0.243734 0.3288 0.3108 Uncertain 2_55040426_A->G 2 55040426 55040426 A G snp 4246.77 1/1 99 156 0 156 1.0 exonic rs2631840 EML6 AU synonymous SNV NM_001039753 exon2 c.A255G p.P85P 0.786342 0.7649 0.8263 0.7846 Uncertain 2_55071101_-->TGTGTG 2 55071101 55071101 - TGTGTG indel 1002.73 ./1 99 22 0 22 1.0 intronic rs764275037 EML6 AU NM_001039753 exon7 c.118985-82insTGTGTG Uncertain 2_55071102_TG->- 2 55071102 55071103 TG - indel 1002.73 ./1 99 22 0 22 1.0 intronic rs72020199 EML6 AU NM_001039753 exon7 c.118985-81_118985-80delTG Uncertain 2_55077061_A->G 2 55077061 55077061 A G snp 104.77 0/1 99 11 6 5 0.45 intronic rs12713278 EML6 AU NM_001039753 exon9 c.124900-37A>G 0.392572 0.3413 0.467763 0.4520 0.35 Uncertain 2_55077401_G->A 2 55077401 55077401 G A snp 2186.77 0/1 99 213 118 95 0.45 intronic EML6 AU NM_001039753 exon9 c.125157+46G>A Uncertain 2_55091029_C->T 2 55091029 55091029 C T snp 1257.77 0/1 99 89 41 48 0.54 splicing rs2358155 EML6 AU NM_001039753 exon12 c.138828+3C>T 0.173922 0.2163 0.221638 0.2178 0.1994 Pathogenic 2_55091223_A->C 2 55091223 55091223 A C snp 43.77 0/1 72 4 2 2 0.5 intronic rs6545450 EML6 AU NM_001039753 exon12 c.138828+197A>C 0.295927 0.2659 Uncertain 2_55093784_T->A 2 55093784 55093784 T A snp 586.77 0/1 99 34 15 19 0.56 intronic rs17417731 EML6 AU NM_001039753 exon13 c.141704-118T>A 0.165335 0.2232 Uncertain 2_55093842_G->A 2 55093842 55093842 G A snp 935.77 0/1 99 87 46 41 0.47 intronic rs1961245 EML6 AU NM_001039753 exon13 c.141704-60G>A 0.534145 0.5536 Uncertain 2_55121930_C->G 2 55121930 55121930 C G snp 1156.77 1/1 87 33 0 33 1.0 intronic rs998230 EML6 AU NM_001039753 exon19 c.169853-121C>G 0.452676 0.6468 Uncertain 2_55180965_G->A 2 55180965 55180965 G A snp 48.74 1/1 6 2 0 2 1.0 intronic rs4671998 EML6 AU NM_001039753 exon31 c.228921-154G>A 0.926118 0.9544 Uncertain 2_55181023_A->- 2 55181023 55181023 A - indel 39.73 0/1 77 14 8 6 0.43 intronic EML6 AU NM_001039753 exon31 c.228921-96delA Uncertain 2_55181351_T->C 2 55181351 55181351 T C snp 178.9 1/1 15 5 0 5 1.0 intronic rs4671999 EML6 AU NM_001039753 exon31 c.229095+58T>C 0.506589 0.6944 Uncertain 2_55181382_G->A 2 55181382 55181382 G A snp 50.74 1/1 6 2 0 2 1.0 intronic rs4672001 EML6 AU NM_001039753 exon31 c.229095+89G>A 0.505791 0.6944 Uncertain 2_55186229_T->C 2 55186229 55186229 T C snp 1456.77 1/1 99 48 0 48 1.0 intronic rs12623902 EML6 AU NM_001039753 exon33 c.234042-11T>C 0.497804 0.6944 0.586947 0.5912 0.6764 Uncertain 2_55186394_A->C 2 55186394 55186394 A C snp 1677.77 1/1 99 59 0 59 1.0 exonic rs17346629 EML6 AU synonymous SNV NM_001039753 exon33 c.A4849C p.R1617R 0.49361 0.6935 0.580377 0.5793 0.6896 Uncertain 2_55187297_-->G 2 55187297 55187297 - G indel 2658.73 1/1 99 73 0 73 1.0 intronic rs397820098 EML6 AU NM_001039753 exon34 c.235157-58insG 0.999401 0.999 Uncertain 2_55196956_G->A 2 55196956 55196956 G A snp 314.78 1/1 27 9 0 9 1.0 intronic rs2580764 EML6 AU NM_001039753 exon41 c.245008-250G>A 0.313099 0.621 Uncertain 2_55200800_T->G 2 55200800 55200800 T G snp 1665.77 1/1 99 54 0 54 1.0 intronic rs2255112 RTN4 AU NM_207520 exon2 c.466+43T>G 0.345248 0.6607 0.333385 0.4026 0.6714 Uncertain 2_55201038_C->T 2 55201038 55201038 C T snp 1071.77 1/1 78 36 0 36 1.0 intronic rs2255026 RTN4 AU NM_207520 exon3 c.712+35C>T 0.817891 0.7639 0.879594 0.8078 0.7637 Uncertain 2_55201739_C->T 2 55201739 55201739 C T snp 1915.77 0/1 99 147 67 80 0.54 intronic RTN4 AU NM_207520 exon4 c.1539-91C>T Uncertain 2_55214618_A->C 2 55214618 55214618 A C snp 1723.77 1/1 99 58 0 58 1.0 intronic rs2580769 RTN4 AU NM_207520 exon6 c.14335-8A>C 0.60603 0.7579 0.670152 0.6978 0.7621 Uncertain 2_55214912_C->G 2 55214912 55214912 C G snp 436.77 1/1 33 11 0 11 1.0 intronic rs2580770 RTN4 AU NM_207520 exon6 c.14543+78C>G 0.816893 0.7579 Uncertain 2_55404794_G->A 2 55404794 55404794 G A snp 902.77 1/1 66 33 0 33 1.0 exonic rs14026 CLHC1 AU nonsynonymous SNV NM_152385 exon12 c.C1508T p.A503V 0.469249 0.4851 0.511304 0.5004 0.5311 0.62 T 0.0 P -0.923 T 0.0 T 0.0 T Pathogenic 2_55407754_C->T 2 55407754 55407754 C T snp 6121.77 1/1 99 231 0 231 1.0 exonic rs6716066 CLHC1 AU nonsynonymous SNV NM_152385 exon11 c.G1276A p.V426I 0.965056 0.9762 0.982854 0.9652 0.9769 1 T 1.000 P -0.947 T 0.0 T 0.0 T Pathogenic 2_55407935_G->A 2 55407935 55407935 G A snp 512.77 1/1 39 16 0 16 1.0 intronic rs10183953 CLHC1 AU NM_152385 exon3 c.4923+87G>A 0.938099 0.9762 Uncertain 2_55439963_C->A 2 55439963 55439963 C A snp 1937.77 1/1 99 61 0 61 1.0 intronic rs2118283 CLHC1 AU NM_152385 exon9 c.37017+21C>A 0.964856 0.9752 0.982154 0.9647 0.9773 Uncertain 2_55460605_A->T 2 55460605 55460605 A T snp 172.9 1/1 15 5 0 5 1.0 intronic rs6737227 RPS27A AU NM_001177413 exon2 c.593+52A>T 0.708666 0.6111 0.7409 0.6430 Uncertain 2_55470115_C->T 2 55470115 55470115 C T snp 1271.77 1/1 93 38 0 38 1.0 exonic rs11357 MTIF2 AU nonsynonymous SNV NM_002453 exon13 c.G1666A p.V556I 0.628794 0.624 0.690278 0.7314 0.6581 1 T 0.000 P -0.951 T 0.002 T 0.022 T Pathogenic 2_55471407_T->C 2 55471407 55471407 T C snp 1421.77 1/1 99 48 0 48 1.0 intronic rs2589083 MTIF2 AU NM_002453 exon6 c.7586+38T>C 0.942093 0.9782 0.953728 0.9505 0.9811 Uncertain 2_55473371_A->G 2 55473371 55473371 A G snp 3743.77 1/1 99 124 2 122 0.98 intronic rs2576724 MTIF2 AU NM_002453 exon7 c.9689-101A>G 0.334864 0.5228 Uncertain 2_55473387_AT->- 2 55473387 55473388 AT - indel 8568.73 1/1 99 162 2 160 0.99 intronic rs3833559 MTIF2 AU NM_002453 exon7 c.9689-85_9689-84delAT 0.623403 0.622 Uncertain 2_55473681_A->C 2 55473681 55473681 A C snp 1181.77 1/1 90 35 0 35 1.0 intronic rs2589081 MTIF2 AU NM_002453 exon7 c.9814+84A>C 0.961062 0.9782 Uncertain 2_55489629_T->C 2 55489629 55489629 T C snp 966.77 1/1 72 25 0 25 1.0 intronic rs2589093 MTIF2 AU NM_002453 exon12 c.25780+66T>C 0.630591 0.627 Uncertain 2_55490746_A->- 2 55490746 55490746 A - indel 72.73 0/1 99 24 16 8 0.33 intronic rs770490128 MTIF2 AU NM_002453 exon13 c.26992-29delA 0.3477 0.3278 Uncertain 2_55490819_G->T 2 55490819 55490819 G T snp 3298.77 1/1 99 125 1 124 0.99 exonic rs1056445 MTIF2 AU nonsynonymous SNV NM_002453 exon4 c.C176A p.T59N 0.629193 0.627 0.688221 0.7309 0.6600 0.55 T 0.0 P -0.976 T 0.028 T 0.019 T Pathogenic 2_55518742_T->C 2 55518742 55518742 T C snp 1698.77 1/1 99 62 0 62 1.0 intronic rs2249856 CCDC88A AR 0.786542 0.9792 Uncertain 2_55522422_A->G 2 55522422 55522422 A G snp 5336.77 1/1 99 186 0 186 1.0 intronic rs2589110 CCDC88A AR NM_018084 exon3 c.3886-310A>G 0.909145 0.9792 0.9137 0.9798 Uncertain 2_55522583_G->T 2 55522583 55522583 G T snp 3433.77 0/1 99 231 99 132 0.57 intronic rs772503091 CCDC88A AR NM_018084 exon3 c.3886-149G>T 0 0 0.43 T 1.000 N -1.029 T Uncertain 2_55523309_C->A 2 55523309 55523309 C A snp 86.28 1/1 9 3 0 3 1.0 intronic rs2028140 CCDC88A AR NM_018084 exon4 c.4547-84C>A 0.896765 0.9772 Uncertain 2_55527108_G->A 2 55527108 55527108 G A snp 4471.77 1/1 99 174 1 173 0.99 intronic rs1545121 CCDC88A AR NM_018084 exon5 c.8209+53G>A 0.748003 0.9425 0.791064 Uncertain 2_55528257_A->C 2 55528257 55528257 A C snp 981.77 1/1 72 33 0 33 1.0 intronic rs2576699 CCDC88A AR NM_018084 exon6 c.9495-84A>C 0.861821 0.9792 Uncertain 2_55566531_A->C 2 55566531 55566531 A C snp 480.77 1/1 36 13 0 13 1.0 intronic rs12621734 CCDC88A AR NM_018084 exon20 c.47753-68A>C 0.335264 0.5387 Uncertain 2_55566539_TATT->- 2 55566539 55566542 TATT - indel 833.73 1/1 39 13 0 13 1.0 intronic rs66706508 CCDC88A AR NM_018084 exon20 c.47753-60_47753-57delTATT 0.326278 0.5387 Uncertain 2_55576634_C->T 2 55576634 55576634 C T snp 4918.77 1/1 99 188 0 188 1.0 intronic rs2589090 CCDC88A AR NM_018084 exon24 c.57807-19C>T 0.563698 0.8532 0.487387 0.4521 0.8492 Uncertain 2_55582601_-->TTGACACA 2 55582601 55582601 - TTGACACA indel 2547.73 1/1 69 23 0 23 1.0 intronic rs3975805 CCDC88A AR NM_018084 exon25 c.63868-113insTTGACACA 0.559904 0.8532 Uncertain 2_55582684_A->T 2 55582684 55582684 A T snp 5348.77 1/1 99 199 0 199 1.0 intronic rs1437394 CCDC88A AR NM_018084 exon25 c.63868-30A>T 0.480631 0.8532 0.412809 0.4258 0.8505 Uncertain 2_55589364_G->A 2 55589364 55589364 G A snp 565.77 1/1 42 16 0 16 1.0 intronic rs13019339 CCDC88A AR NM_018084 exon26 c.70597-79G>A 0.319688 0.5407 Uncertain 2_55589434_T->A 2 55589434 55589434 T A snp 2692.77 1/1 99 102 0 102 1.0 intronic rs3111412 CCDC88A AR NM_018084 exon26 c.70597-9T>A 0.543331 0.8532 0.463137 0.4350 0.8484 Uncertain 2_55599810_C->T 2 55599810 55599810 C T snp 96.28 1/1 9 3 0 3 1.0 intronic rs10496042 CCDC88A AR NM_018084 exon28 c.80800+164C>T 0.322284 0.5407 Uncertain 2_55749095_T->C 2 55749095 55749095 T C snp 57.74 1/1 6 3 0 3 1.0 intronic CFAP36 AU NM_080667 exon2 c.2300-142T>C Uncertain 2_55760940_G->T 2 55760940 55760940 G T snp 621.77 0/1 99 73 45 28 0.38 intronic rs4671248 CFAP36 AU NM_080667 exon5 c.14071-68G>T 0.683107 0.4444 Uncertain 2_55771050_C->G 2 55771050 55771050 C G snp 686.77 0/1 99 67 35 32 0.48 intronic rs3816489 CFAP36 AU NM_080667 exon8 c.24136-23C>G 0.605831 0.4315 0.709834 0.7110 0.4453 Uncertain 2_55771161_A->G 2 55771161 55771161 A G snp 2344.77 0/1 99 250 145 105 0.42 exonic rs1045910 CFAP36 AU nonsynonymous SNV NM_080667 exon8 c.A728G p.D243G 0.826278 0.4821 0.953714 0.8996 0.5090 0.91 T 0.999 P -0.993 T 0.0 T 0.0 T Pathogenic 2_55772228_C->T 2 55772228 55772228 C T snp 44.78 0/1 27 3 1 2 0.67 downstream rs74503214 CFAP36 AU 0.0169728 0.0804 Uncertain 2_55805440_T->C 2 55805440 55805440 T C snp 1282.77 1/1 93 53 1 52 0.98 exonic rs2903704 SMEK2 AU nonsynonymous SNV NM_001122964 exon10 c.A1507G p.I503V 0.991414 1 0.9891 1 0.27 T 0.0 P -1.028 T 0.0 T 0.0 T Pathogenic 2_55806925_AT->- 2 55806925 55806926 AT - indel 321.73 0/1 99 21 12 9 0.43 intronic rs35257458 SMEK2 AU NM_020463 exon7 c.29871+8_29871+9delAT 0.251398 0.3006 0.217906 0.2507 0.3173 Uncertain 2_55812061_A->G 2 55812061 55812061 A G snp 865.77 0/1 99 84 50 34 0.4 intronic rs4312532 SMEK2 AU NM_020463 exon9 c.35140-125A>G 0.522165 0.3958 Uncertain 2_55842425_TTTT->- 2 55842425 55842428 TTTT - indel 375.73 0/1 99 15 8 7 0.47 intronic rs397984645 SMEK2 AU NM_020463 exon14 c.65540-161_65540-158delTTTT 0.126398 0.253 Uncertain 2_55844105_C->T 2 55844105 55844105 C T snp 168.77 0/1 99 19 12 7 0.37 intronic rs782593 SMEK2 AU NM_020463 exon15 c.67233-174C>T 0.827875 0.4901 Uncertain 2_55867938_A->G 2 55867938 55867938 A G snp 215.77 0/1 99 17 9 8 0.47 intronic rs34679603 PNPT1 AR NM_033109 exon3 c.4469+98A>G 0.333666 0.3651 Uncertain 2_55889062_G->A 2 55889062 55889062 G A snp 310.77 0/1 99 17 5 12 0.71 intronic rs782604 PNPT1 AR NM_033109 exon15 c.25719-28G>A 0.827077 0.504 0.948548 0.8995 0.5485 Uncertain 2_55894090_A->G 2 55894090 55894090 A G snp 55.77 0/1 84 13 9 4 0.31 intronic rs13009649 PNPT1 AR NM_033109 exon16 c.30754-35A>G 0.129792 0.2619 0.109546 0.1849 0.3116 Uncertain 2_55894428_G->A 2 55894428 55894428 G A snp 41.77 0/1 70 5 3 2 0.4 intronic rs12329050 PNPT1 AR NM_033109 exon16 c.30857+200G>A 0.470847 0.3532 Uncertain 2_55895305_T->C 2 55895305 55895305 T C snp 46.77 0/1 31 3 1 2 0.67 intronic rs12993839 PNPT1 AR NM_033109 exon17 c.31722+212T>C 0.128994 0.2619 Uncertain 2_55899228_A->T 2 55899228 55899228 A T snp 235.77 0/1 99 20 9 11 0.55 intronic rs782631 PNPT1 AR NM_033109 exon19 c.35810+47A>T 0.828275 0.504 0.950115 0.8985 0.5138 Uncertain 2_55911996_-->A 2 55911996 55911996 - A indel 1610.73 0/1 99 71 26 45 0.63 intronic PNPT1 AR NM_033109 exon25 c.48706-81insA Uncertain 2_56149475_C->G 2 56149475 56149475 C G snp 5552.77 1/1 99 207 0 207 1.0 intronic rs2277886 EFEMP1 AD NM_001039349 exon10 c.55287-19C>G 0.151158 0.3671 0.145241 0.1792 0.3904 Uncertain 2_56216052_G->A 2 56216052 56216052 G A snp 4351.77 1/1 99 164 0 164 1.0 ncRNA_intronic rs10865292 MIR217HG AU 0.91853 0.8651 0.923592 0.9087 0.8706 Uncertain 2_56411817_C->T 2 56411817 56411817 C T snp 421.77 0/1 99 48 27 21 0.44 exonic rs35587531 CCDC85A AU nonsynonymous SNV NM_001080433 exon1 c.C58T p.P20S 0.713658 0.878 0.7864 0.8733 0.69 T 0.000 P -0.993 T 0.0 T 0.0 T Pathogenic 2_56603118_C->G 2 56603118 56603118 C G snp 1491.77 0/1 99 101 41 60 0.59 intronic rs72803075 CCDC85A AU NM_001080433 exon5 c.191311+48C>G 0.189896 0.0387 0.269585 0.2497 0.0502 Uncertain 2_58275666_G->A 2 58275666 58275666 G A snp 1027.77 0/1 99 96 45 51 0.53 intronic rs986512 VRK2 AU 0.690296 0.5863 0.6197 0.5706 Uncertain 2_58350504_A->G 2 58350504 58350504 A G snp 93.28 1/1 9 3 0 3 1.0 intronic rs7558007 VRK2 AU NM_001130483 exon8 c.74402+136A>G 0.962061 0.998 Uncertain 2_58381785_T->C 2 58381785 58381785 T C snp 303.77 0/1 99 28 14 14 0.5 intronic rs848294 VRK2 AU NM_001130483 exon13 c.105922-103T>C 0.260383 0.3056 Uncertain 2_58387000_C->T 2 58387000 58387000 C T snp 182.77 0/1 99 15 8 7 0.47 UTR3 rs3732136 VRK2 AU 0.444688 0.2758 0.440387 Uncertain 2_58388696_A->G 2 58388696 58388696 A G snp 2042.77 1/1 99 84 0 84 1.0 exonic rs848291 FANCL AR synonymous SNV NM_018062 exon12 c.T981C p.S327S 0.70647 0.5883 0.704091 0.6487 0.5640 Uncertain 2_58390679_T->G 2 58390679 58390679 T G snp 484.77 0/1 99 46 30 16 0.35 intronic rs12624152 FANCL AR NM_018062 exon6 c.3753+27T>G 0.109824 0.2192 0.069451 0.1144 0.2259 Uncertain 2_58392789_T->C 2 58392789 58392789 T C snp 1376.77 0/1 99 106 48 58 0.55 intronic rs848288 FANCL AR NM_018062 exon7 c.5959-69T>C 0.276757 0.2887 Uncertain 2_58392798_TTA->- 2 58392798 58392800 TTA - indel 3143.73 0/1 99 113 54 59 0.52 intronic rs148383677 FANCL AR NM_018062 exon7 c.5959-60_5959-58delTTA 0.252396 0.2887 Uncertain 2_58421501_T->C 2 58421501 58421501 T C snp 450.77 0/1 99 39 22 17 0.44 intronic rs72618693 FANCL AR NM_001114636 exon8 c.38814-4212T>C 0.0131789 0.0595 Uncertain 2_58431168_T->C 2 58431168 58431168 T C snp 37.77 0/1 66 6 4 2 0.33 intronic rs1404460 FANCL AR NM_018062 exon9 c.44365-96T>C 0.176917 0.2202 Uncertain 2_58431410_G->C 2 58431410 58431410 G C snp 1216.77 0/1 99 90 38 52 0.58 intronic rs1404459 FANCL AR NM_018062 exon9 c.44462+49G>C 0.176717 0.2192 0.147240 0.1260 0.1979 Uncertain 2_58453843_-->A 2 58453843 58453843 - A indel 342.73 0/1 90 26 7 19 0.73 intronic rs372101290 FANCL AR NM_018062 exon11 c.66963-19insA 0.259585 0.2827 0.3679 0.3512 Uncertain 2_58478722_T->C 2 58478722 58478722 T C snp 77.77 0/1 99 8 5 3 0.38 intergenic rs61746304 FANCL AR 0.110224 0.2183 Uncertain 2_60614572_G->A 2 60614572 60614572 G A snp 2933.77 1/1 99 111 2 109 0.98 ncRNA_exonic rs243080 MIR4432 AU 0.449681 0.6091 0.875 . Uncertain 2_60614577_A->G 2 60614577 60614577 A G snp 2947.77 1/1 99 113 2 111 0.98 ncRNA_exonic rs56239160 MIR4432 AU 0.24401 0.6042 0.125 . Uncertain 2_60687959_A->G 2 60687959 60687959 A G snp 5577.77 1/1 99 196 0 196 1.0 exonic rs7569946 BCL11A AU synonymous SNV NM_022893 exon4 c.T2088C p.S696S 0.830072 0.998 0.712494 0.6977 0.9988 Uncertain 2_60689748_A->G 2 60689748 60689748 A G snp 624.77 1/1 48 17 0 17 1.0 intronic rs9789627 BCL11A AU NM_018014 exon2 c.9850+189A>G 0.718251 0.9752 Uncertain 2_60768978_G->A 2 60768978 60768978 G A snp 105.77 0/1 99 11 6 5 0.45 intronic rs2665668 BCL11A AU NM_018014 exon4 c.93396-4127G>A 0.599441 0.7222 0.6417 0.7149 Uncertain 2_61007782_A->G 2 61007782 61007782 A G snp 3607.77 1/1 99 126 0 126 1.0 intronic rs10496089 PAPOLG AU NM_022894 exon10 c.24228-59A>G 0.698882 0.5675 0.717696 Uncertain 2_61008036_C->T 2 61008036 61008036 C T snp 929.77 1/1 69 26 0 26 1.0 intronic rs3845814 PAPOLG AU NM_022894 exon10 c.24301+122C>T 0.99361 1 Uncertain 2_61014952_A->G 2 61014952 61014952 A G snp 370.77 1/1 30 10 0 10 1.0 intronic rs4672404 PAPOLG AU NM_022894 exon15 c.31142+197A>G 0.616214 0.5724 Uncertain 2_61121492_G->A 2 61121492 61121492 G A snp 343.78 1/1 27 11 0 11 1.0 intronic rs842644 REL AU NM_001291746 exon3 c.12556-39G>A 0.975439 1 0.963362 0.9497 0.9986 Uncertain 2_61145512_G->T 2 61145512 61145512 G T snp 84.77 0/1 99 38 29 9 0.24 intronic rs747338190 REL AU NM_001291746 exon7 c.36553-16G>T 3.44e-05 0 Uncertain 2_61187479_A->- 2 61187479 61187479 A - indel 59.73 0/1 90 14 7 7 0.5 intronic rs375391646 PUS10 AU NM_144709 exon8 c.17997-47delA 0.3749 0.4087 Uncertain 2_61235855_C->A 2 61235855 61235855 C A snp 326.77 0/1 99 16 6 10 0.63 intronic rs1182688 PUS10 AU NM_144709 exon16 c.66366-40C>A 0.320687 0.4325 0.311675 0.3256 0.4458 Uncertain 2_61304002_A->G 2 61304002 61304002 A G snp 651.77 0/1 99 44 18 26 0.59 intronic rs1729657 KIAA1841 AU NM_001129993 exon6 c.6569-52A>G 0.617212 0.505 Uncertain 2_61304271_A->G 2 61304271 61304271 A G snp 2182.77 0/1 99 199 100 99 0.5 exonic rs1729659 KIAA1841 AU synonymous SNV NM_001129993 exon6 c.A648G p.K216K 0.345847 0.4167 0.349147 0.3265 0.4340 Uncertain 2_61308517_A->G 2 61308517 61308517 A G snp 37.77 0/1 66 6 4 2 0.33 intronic rs1177295 KIAA1841 AU NM_001129993 exon7 c.11101-69A>G 0.593251 0.5109 0.650528 Uncertain 2_61349446_G->A 2 61349446 61349446 G A snp 194.77 0/1 99 15 7 8 0.53 UTR3 rs1177284 KIAA1841 AU 0.678315 0.4643 Uncertain 2_61404905_C->G 2 61404905 61404905 C G snp 86.28 1/1 9 3 0 3 1.0 UTR5 rs3821224 AHSA2 AU 0.360224 0.3304 Uncertain 2_61412559_C->T 2 61412559 61412559 C T snp 117.77 0/1 99 8 4 4 0.5 intronic rs777585 AHSA2 AU NM_152392 exon4 c.776-77C>T 0.65615 0.6756 Uncertain 2_61413694_G->A 2 61413694 61413694 G A snp 1297.77 0/1 99 103 51 52 0.5 intronic rs186962547 AHSA2 AU NM_152392 exon6 c.1891-57G>A 0.00219649 0.0089 Uncertain 2_61413723_A->G 2 61413723 61413723 A G snp 1303.77 0/1 99 114 56 58 0.51 intronic rs1809028 AHSA2 AU NM_152392 exon6 c.1891-28A>G 0.795527 0.6786 0.834153 0.7752 0.6690 Uncertain 2_61413822_-->CTAT 2 61413822 61413822 - CTAT indel 2621.73 0/1 99 102 41 61 0.6 exonic rs201718702 AHSA2 AU frameshift insertion NM_152392 exon6 c.315_316insCTAT p.F105fs 0.0027 0.0186 Pathogenic 2_61417617_A->G 2 61417617 61417617 A G snp 848.77 0/1 99 66 35 31 0.47 intronic rs777591 USP34 AU NM_014709 exon4 c.2416-35A>G 0.628994 0.6766 0.616318 0.6433 0.6694 Uncertain 2_61448776_A->C 2 61448776 61448776 A C snp 1324.77 0/1 99 83 34 49 0.59 intronic rs2290324 USP34 AU NM_014709 exon15 c.33505+35A>C 0.248403 0.3254 0.199486 0.2413 0.3374 Uncertain 2_61450454_A->G 2 61450454 61450454 A G snp 729.77 1/1 54 24 0 24 1.0 intronic rs2123111 USP34 AU NM_014709 exon18 c.35195+23A>G 0.579073 0.6141 0.512853 0.5656 0.6354 Uncertain 2_61456611_C->A 2 61456611 61456611 C A snp 143.03 1/1 12 5 0 5 1.0 intronic rs145830957 USP34 AU NM_014709 exon22 c.41446-71C>A Uncertain 2_61483715_A->T 2 61483715 61483715 A T snp 113.77 0/1 99 7 3 4 0.57 intronic rs68101593 USP34 AU NM_014709 exon33 c.68377+102A>T 0.547724 0.374 Uncertain 2_61483725_T->A 2 61483725 61483725 T A snp 40.77 0/1 69 5 3 2 0.4 intronic rs72811484 USP34 AU NM_014709 exon33 c.68377+112T>A Uncertain 2_61484556_T->C 2 61484556 61484556 T C snp 77.77 0/1 99 7 4 3 0.43 intronic rs2060824 USP34 AU NM_014709 exon36 c.69249+71T>C 0.510982 0.3403 Uncertain 2_61510555_G->C 2 61510555 61510555 G C snp 107.77 0/1 64 7 2 5 0.71 exonic USP34 AU nonsynonymous SNV NM_014709 exon36 c.C4862G p.S1621C 0.04 T 1 D -1.189 T 0.997 D 0.981 D Pathogenic 2_61522047_T->C 2 61522047 61522047 T C snp 136.77 0/1 99 22 13 9 0.41 intronic rs35292974 USP34 AU NM_014709 exon49 c.106847-36T>C 0.351837 0.3234 0.367443 0.3788 0.3690 Uncertain 2_61522123_T->C 2 61522123 61522123 T C snp 1774.77 1/1 99 74 0 74 1.0 exonic rs13014347 USP34 AU synonymous SNV NM_014709 exon32 c.A4422G p.E1474E 0.994609 1 0.986684 0.9879 0.9997 Uncertain 2_61528299_-->A 2 61528299 61528299 - A indel 558.73 0/1 99 68 36 32 0.47 splicing rs11428092 USP34 AU NM_014709 exon52 c.113059+4insA 0.316693 0.3224 0.330479 0.3446 0.3335 Pathogenic 2_61538613_-->AAAAAGAAA 2 61538613 61538613 - AAAAAGAAA indel 880.73 0/1 99 21 11 10 0.48 intronic rs70963413 USP34 AU NM_014709 exon54 c.123438-61insAAAAAGAAA Uncertain 2_61538615_G->A 2 61538615 61538615 G A snp 210.77 0/1 99 21 13 8 0.38 intronic rs66471684 USP34 AU NM_014709 exon54 c.123438-59G>A Uncertain 2_61552336_A->G 2 61552336 61552336 A G snp 50.74 1/1 6 2 0 2 1.0 intronic rs72813537 USP34 AU NM_014709 exon60 c.137273-173A>G 0.221046 0.2917 Uncertain 2_61552484_T->A 2 61552484 61552484 T A snp 907.77 1/1 66 35 0 35 1.0 intronic rs2593624 USP34 AU NM_014709 exon60 c.137273-25T>A 0.725639 0.627 0.702515 0.6966 0.6597 Uncertain 2_61570887_AAGT->- 2 61570887 61570890 AAGT - indel 2043.73 0/1 99 70 37 33 0.47 intronic rs3980973 USP34 AU NM_014709 exon65 c.155713-62_155713-59delAAGT 0.311502 0.3095 Uncertain 2_61575308_A->G 2 61575308 61575308 A G snp 7678.77 1/1 99 250 0 250 1.0 exonic rs6722430 USP34 AU nonsynonymous SNV NM_014709 exon15 c.T1982C p.M661T 0.993011 1 0.985651 0.9853 0.9995 0.65 T 0.0 P -0.980 T 0.0 T 0.0 T Pathogenic 2_61576517_G->A 2 61576517 61576517 G A snp 2529.77 1/1 99 86 0 86 1.0 intronic rs811378 USP34 AU NM_014709 exon68 c.161184+97G>A 0.999201 0.996 Uncertain 2_61577435_T->C 2 61577435 61577435 T C snp 613.77 0/1 99 64 38 26 0.41 exonic rs2166720 USP34 AU synonymous SNV NM_014709 exon12 c.A1467G p.A489A 0.202476 0.2907 0.119654 0.2056 0.3046 Uncertain 2_61605614_T->A 2 61605614 61605614 T A snp 872.77 1/1 63 34 0 34 1.0 intronic rs10208769 USP34 AU NM_014709 exon73 c.190323+55T>A 0.539537 0.6032 0.453704 Uncertain 2_61607510_G->A 2 61607510 61607510 G A snp 2147.77 0/1 99 169 83 86 0.51 intronic rs988911 USP34 AU NM_014709 exon74 c.192260+14G>A 0.196086 0.2917 0.106050 0.2042 0.3138 Uncertain 2_61644329_C->G 2 61644329 61644329 C G snp 218.84 1/1 18 6 0 6 1.0 intronic rs13028833 USP34 AU NM_014709 exon79 c.232644-3551C>G 0.586661 0.6062 Uncertain 2_61647901_A->G 2 61647901 61647901 A G snp 722.77 0/1 99 54 25 29 0.54 exonic rs778155 USP34 AU synonymous SNV NM_014709 exon2 c.T111C p.Y37Y 0.335463 0.3284 0.333138 0.3589 0.3461 Uncertain 2_61648932_-->CACG 2 61648932 61648932 - CACG indel 416.87 1/1 15 11 1 10 0.91 intronic rs374251365 USP34 AU NM_014709 exon79 c.232732+964insCACG Uncertain 2_61697606_G->A 2 61697606 61697606 G A snp 205.77 0/1 99 13 6 7 0.54 intronic rs555718579 USP34 AU NM_014709 exon80 c.282548-178G>A 0.000599042 0.003 Uncertain 2_61706208_T->C 2 61706208 61706208 T C snp 722.77 0/1 99 51 26 25 0.49 intronic rs141475776 XPO1 AU NM_003400 exon1 c.147+107T>C 0.00738818 0.0347 Uncertain 2_61709404_T->C 2 61709404 61709404 T C snp 73.77 0/1 99 14 9 5 0.36 intronic XPO1 AU NM_003400 exon3 c.3560-110T>C Uncertain 2_61722519_-->A 2 61722519 61722519 - A indel 280.73 0/1 71 13 3 10 0.77 intronic rs150416626 XPO1 AU NM_003400 exon15 c.16635-70insA 0.641973 0.6677 Uncertain 2_61729258_A->G 2 61729258 61729258 A G snp 779.77 0/1 99 78 41 37 0.47 intronic rs2305155 XPO1 AU NM_003400 exon20 c.23221+83A>G 0.621805 0.6617 Uncertain 2_61729268_T->C 2 61729268 61729268 T C snp 756.77 0/1 99 80 44 36 0.45 intronic rs2305156 XPO1 AU NM_003400 exon20 c.23221+93T>C 0.640974 0.6617 Uncertain 2_61749690_C->T 2 61749690 61749690 C T snp 552.77 0/1 99 49 26 23 0.47 intronic rs3732171 XPO1 AU NM_003400 exon22 c.43791-55C>T 0.605032 0.6587 0.609286 Uncertain 2_61749716_C->T 2 61749716 61749716 C T snp 681.77 0/1 99 63 32 31 0.49 intronic rs3732170 XPO1 AU NM_003400 exon22 c.43791-29C>T 0.640575 0.6587 0.639846 0.6313 0.6515 Uncertain 2_62063094_A->- 2 62063094 62063094 A - indel 332.73 0/1 72 40 11 29 0.72 intronic rs11299120 FAM161A AU NM_001201543 exon3 c.9555-50delA Uncertain 2_62066927_A->G 2 62066927 62066927 A G snp 4266.77 1/1 99 141 0 141 1.0 exonic rs4672457 FAM161A AU synonymous SNV NM_032180 exon3 c.T1212C p.C404C 0.979633 0.999 0.979830 0.9759 0.9961 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000082296.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 2_62074017_G->C 2 62074017 62074017 G C snp 95.77 0/1 99 25 19 6 0.24 intronic rs118048853 FAM161A AU NM_001201543 exon6 c.15906+4522G>C 0.0720847 0.2143 Uncertain 2_62074097_G->A 2 62074097 62074097 G A snp 291.77 0/1 96 18 4 14 0.78 intronic rs12476816 FAM161A AU NM_001201543 exon6 c.15906+4602G>A 0.216054 0.3393 0.2346 0.3226 Uncertain 2_62074140_-->AC 2 62074140 62074140 - AC indel 306.77 1/1 21 7 0 7 1.0 intronic rs113296637 FAM161A AU NM_001201543 exon6 c.15906+4645insAC 0.878195 0.8849 0.9783 0.9870 Uncertain 2_62081012_A->C 2 62081012 62081012 A C snp 4287.77 1/1 99 153 0 153 1.0 exonic rs4270331 FAM161A AU synonymous SNV NM_032180 exon1 c.T165G p.A55A 0.979433 0.999 0.979709 0.9759 0.9965 Uncertain 2_62081217_A->G 2 62081217 62081217 A G snp 824.77 1/1 60 24 0 24 1.0 UTR5 rs1881616 FAM161A AU 0.979433 0.999 0.981489 0.9746 0.9968 Uncertain 2_62095994_A->G 2 62095994 62095994 A G snp 317.78 1/1 24 12 0 12 1.0 intronic rs4672463 CCT4 AU NM_001256721 exon1 c.15+153A>G 0.979233 0.999 Uncertain 2_62099156_T->C 2 62099156 62099156 T C snp 56.74 1/1 6 2 0 2 1.0 intronic rs3828276 CCT4 AU NM_001256721 exon3 c.3390-60T>C 0.476038 0.75 Uncertain 2_62104661_A->- 2 62104661 62104661 A - indel 367.73 0/1 51 29 6 23 0.79 intronic rs36062307 CCT4 AU NM_001256721 exon9 c.8823+12delA 0.463059 0.6349 0.4632 0.5653 Uncertain 2_62107376_-->C 2 62107376 62107376 - C indel 1416.73 1/1 96 32 0 32 1.0 intronic rs5831625 CCT4 AU NM_001256721 exon11 c.11594-44insC 0.979633 0.999 0.978910 0.9760 0.9963 Uncertain 2_62112081_C->T 2 62112081 62112081 C T snp 1039.77 0/1 99 113 66 47 0.42 intronic rs78484945 CCT4 AU NM_001256721 exon12 c.16328-73C>T 0.0267572 0.128 0.000438 Uncertain 2_62112246_-->T 2 62112246 62112246 - T indel 468.73 1/1 60 38 0 38 1.0 intronic rs397951865 CCT4 AU NM_001256721 exon12 c.16381+39insT 0.462061 0.5863 0.4416 0.5876 Uncertain 2_62448855_G->A 2 62448855 62448855 G A snp 163.77 0/1 99 10 3 7 0.7 intronic rs10189468 B3GNT2 AU 0.315096 0.2133 Uncertain 2_62450631_A->G 2 62450631 62450631 A G snp 320.77 0/1 99 29 15 14 0.48 UTR3 rs3811616 B3GNT2 AU 0.186102 0.2361 Uncertain 2_62729674_T->C 2 62729674 62729674 T C snp 4348.77 1/1 99 148 0 148 1.0 exonic rs4672527 TMEM17 AU synonymous SNV NM_198276 exon3 c.A216G p.L72L 0.811302 0.6865 0.879594 0.8545 0.7030 Uncertain 2_62729747_-->A 2 62729747 62729747 - A indel 1618.73 1/1 99 53 0 53 1.0 intronic rs11443505 TMEM17 AU NM_198276 exon2 c.1342+62insA 0.811302 0.6865 Uncertain 2_62730048_T->A 2 62730048 62730048 T A snp 56.74 1/1 6 2 0 2 1.0 intronic rs4672528 TMEM17 AU NM_198276 exon3 c.1586+119T>A 0.811302 0.6865 Uncertain 2_62733253_C->T 2 62733253 62733253 C T snp 2061.77 0/1 99 206 113 93 0.45 exonic rs11676567 TMEM17 AU synonymous SNV NM_198276 exon1 c.G12A p.P4P 0.432708 0.5248 0.394356 0.4360 0.5699 Uncertain 2_62733382_G->A 2 62733382 62733382 G A snp 224.77 0/1 99 15 7 8 0.53 UTR5 rs117632723 TMEM17 AU 0.0728834 0.122 Uncertain 2_62738883_C->T 2 62738883 62738883 C T snp 1531.77 1/1 99 56 0 56 1.0 intergenic rs6757222 TMEM17 AU 0.713259 0.6885 0.7609 0.6616 Uncertain 2_62738931_G->C 2 62738931 62738931 G C snp 2217.77 1/1 99 83 0 83 1.0 intergenic rs6757448 TMEM17 AU 0.722244 0.6905 0.7750 0.6616 Uncertain 2_62739135_A->C 2 62739135 62739135 A C snp 347.78 1/1 27 9 0 9 1.0 intergenic rs4405748 TMEM17 AU 0.795927 0.6885 Uncertain 2_63085848_T->C 2 63085848 63085848 T C snp 413.77 1/1 33 11 0 11 1.0 intronic rs7567923 EHBP1 AU NM_015252 exon8 c.151319+203T>C 0.645567 0.5933 Uncertain 2_63086406_T->C 2 63086406 63086406 T C snp 1721.77 0/1 99 181 104 77 0.43 exonic rs557049002 EHBP1 AU nonsynonymous SNV NM_001142614 exon7 c.T737C p.F246S 0.000399361 0.002 9.895e-05 0.0014 0.55 T 1.000 D -0.196 T 1.0 D 0.997 D Pathogenic 2_63175626_T->G 2 63175626 63175626 T G snp 2129.77 0/1 99 162 76 86 0.53 exonic EHBP1 AU nonsynonymous SNV NM_001142614 exon12 c.T1645G p.F549V 0.32 T 1 D 0.047 D 1.0 D 0.996 D Pathogenic 2_63182622_G->T 2 63182622 63182622 G T snp 95.77 0/1 99 52 36 16 0.31 intronic EHBP1 AU NM_001142615 exon14 c.248325-29G>T Uncertain 2_63486429_C->T 2 63486429 63486429 C T snp 1442.77 1/1 99 53 0 53 1.0 intronic rs992214 WDPCP AR NM_015910 exon5 c.137301-12C>T 0.763778 0.8423 0.622899 0.6053 0.8529 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000081787.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 2_63540523_A->T 2 63540523 63540523 A T snp 811.77 1/1 60 26 0 26 1.0 intronic rs1517402 WDPCP AR NM_015910 exon6 c.191306+77A>T 0.874002 0.9524 Uncertain 2_63596525_G->A 2 63596525 63596525 G A snp 928.77 0/1 99 98 58 40 0.41 intronic rs567588445 WDPCP AR NM_015910 exon7 c.256380-8995G>A 0.000798722 0.004 Uncertain 2_63605430_A->G 2 63605430 63605430 A G snp 459.77 1/1 36 12 0 12 1.0 intronic rs2292795 WDPCP AR NM_015910 exon7 c.256380-90A>G 0.873802 0.9524 Uncertain 2_63605772_A->G 2 63605772 63605772 A G snp 605.77 1/1 45 17 0 17 1.0 intronic rs2292794 WDPCP AR NM_015910 exon7 c.256504+128A>G 0.874201 0.9534 Uncertain 2_63720210_A->G 2 63720210 63720210 A G snp 176.9 1/1 15 5 0 5 1.0 intronic rs7563623 WDPCP AR NM_015910 exon17 c.370934+136A>G 0.873802 0.9841 Uncertain 2_63798333_C->T 2 63798333 63798333 C T snp 717.77 1/1 54 27 0 27 1.0 intronic rs4671068 WDPCP AR NM_015910 exon18 c.466190-16997C>T 0.855831 0.9841 Uncertain 2_63816672_C->G 2 63816672 63816672 C G snp 682.77 1/1 54 18 0 18 1.0 intronic rs10469944 MDH1 AU NM_001199111 exon1 c.57+154C>G 0.874601 0.9821 Uncertain 2_63822785_T->C 2 63822785 63822785 T C snp 436.77 1/1 33 14 0 14 1.0 intronic rs2305157 MDH1 AU NM_005917 exon3 c.6476+132T>C 0.883387 0.9821 Uncertain 2_63826528_T->G 2 63826528 63826528 T G snp 262.8 1/1 21 7 0 7 1.0 intronic rs7606045 MDH1 AU NM_005917 exon5 c.10249+102T>G 0.772963 0.9821 Uncertain 2_63849491_T->C 2 63849491 63849491 T C snp 3471.77 1/1 99 127 0 127 1.0 intergenic rs262496 MDH1 AU 0.369609 0.7103 Uncertain 2_64069732_G->A 2 64069732 64069732 G A snp 2868.77 1/1 99 89 0 89 1.0 intronic rs6546029 UGP2 AU NM_006759 exon1 c.19+394G>A 0.84365 0.9177 0.8231 0.9740 Uncertain 2_64085114_G->A 2 64085114 64085114 G A snp 4211.77 1/1 99 155 0 155 1.0 intronic rs10183479 UGP2 AU NM_006759 exon3 c.15751+44G>A 0.844649 0.9137 0.820186 0.8285 0.9169 Uncertain 2_64089748_C->A 2 64089748 64089748 C A snp 338.78 1/1 27 9 0 9 1.0 intronic rs6732746 UGP2 AU NM_006759 exon3 c.15751+4678C>A 0.847244 0.9187 Uncertain 2_64110982_C->T 2 64110982 64110982 C T snp 146.77 0/1 99 15 8 7 0.47 intronic rs141718004 UGP2 AU NM_006759 exon5 c.41774-111C>T 0.00658946 0.0317 Uncertain 2_64174664_G->A 2 64174664 64174664 G A snp 104.28 1/1 9 5 0 5 1.0 intronic rs41291181 VPS54 AU NM_016516 exon15 c.54061+40G>A 0.302117 0.6806 0.135334 0.2600 0.6716 Uncertain 2_64199312_A->G 2 64199312 64199312 A G snp 876.77 0/1 99 57 24 33 0.58 exonic rs146545300 VPS54 AU synonymous SNV NM_001005739 exon4 c.T409C p.L137L 0.00698882 0.0327 0.0020 0.0260 Uncertain 2_64327544_G->T 2 64327544 64327544 G T snp 3469.77 1/1 99 134 0 134 1.0 exonic rs329498 PELI1 AU synonymous SNV NM_020651 exon4 c.C291A p.T97T 0.355631 0.752 0.247578 0.3365 0.7441 Uncertain 2_64327592_T->C 2 64327592 64327592 T C snp 3941.77 1/1 99 156 0 156 1.0 exonic rs329497 PELI1 AU synonymous SNV NM_020651 exon4 c.A243G p.L81L 0.35024 0.752 0.242350 0.3352 0.7439 Uncertain 2_64331816_T->- 2 64331816 64331816 T - indel 70.73 0/1 99 40 27 13 0.33 intronic rs537000200 PELI1 AU NM_020651 exon5 c.9999-18delT 0.427117 0.4385 0.3865 0.3891 Uncertain 2_64682364_A->C 2 64682364 64682364 A C snp 3108.77 1/1 99 98 0 98 1.0 intronic rs3770741 LGALSL AU NM_014181 exon2 c.798-113A>C 0.567891 0.8998 Uncertain 2_64682686_G->A 2 64682686 64682686 G A snp 3230.05 0/1 99 248 115 133 0.54 intronic LGALSL AU NM_014181 exon3 c.1043-36G>A Uncertain 2_64796479_C->T 2 64796479 64796479 C T snp 215.77 0/1 99 17 9 8 0.47 intronic rs6546087 AFTPH AU NM_203437 exon4 c.17744+127C>T 0.556909 0.495 Uncertain 2_64799938_AA->- 2 64799938 64799939 AA - indel 337.73 0/1 65 15 3 12 0.8 intronic rs147232569 AFTPH AU NM_203437 exon6 c.21471-141_21471-140delAA 0.56889 0.4901 Uncertain 2_64800239_G->A 2 64800239 64800239 G A snp 753.77 0/1 99 62 35 27 0.44 intronic rs75307105 AFTPH AU NM_203437 exon6 c.21594+37G>A 0.0896565 0.2083 0.046671 0.0780 0.1997 Uncertain 2_65131523_A->T 2 65131523 65131523 A T snp 1822.77 0/1 99 103 31 72 0.7 ncRNA_exonic rs12623286 LOC400958 AU 0.184105 0.3919 0.1297 0.4167 Uncertain 2_65132050_G->A 2 65132050 65132050 G A snp 2144.77 0/1 99 182 89 93 0.51 ncRNA_intronic rs78893802 LOC400958 AU 0.172324 0.3909 Uncertain 2_65159596_G->A 2 65159596 65159596 G A snp 1059.77 0/1 99 85 43 42 0.49 upstream rs1035165 LOC400958 AU 0.339457 0.5139 Uncertain 2_65200618_C->A 2 65200618 65200618 C A snp 546.77 0/1 99 54 31 23 0.43 intergenic rs4671636 LOC400958 AU 0.539137 0.4524 0.486746 0.4753 0.4449 Uncertain 2_65231064_T->- 2 65231064 65231064 T - indel 2367.73 0/1 99 170 73 97 0.57 intronic rs35470885 SLC1A4 AR NM_003038 exon3 c.14309-22delT 0.166534 0.0962 0.2611 0.1200 Uncertain 2_65315880_G->C 2 65315880 65315880 G C snp 2487.77 1/1 99 79 0 79 1.0 intronic rs1420184 RAB1A AU NM_015543 exon1 c.198+56G>C 0.634185 0.6677 Uncertain 2_65315903_G->A 2 65315903 65315903 G A snp 1437.77 1/1 99 47 0 47 1.0 intronic rs1420185 RAB1A AU NM_015543 exon1 c.198+79G>A 0.559305 0.6667 Uncertain 2_65316272_G->A 2 65316272 65316272 G A snp 600.77 0/1 99 68 40 28 0.41 intronic rs560743397 RAB1A AU NM_004161 exon2 c.578+68G>A 0.000199681 Uncertain 2_65340998_C->T 2 65340998 65340998 C T snp 50.74 1/1 6 2 0 2 1.0 intronic rs6757520 RAB1A AU NM_015543 exon3 c.16314+9058C>T 0.815895 0.7599 Uncertain 2_65473931_AAATTTTC->- 2 65473931 65473938 AAATTTTC - indel 2749.73 0/1 99 76 45 31 0.41 intronic rs58944514 ACTR2 AU NM_001005386 exon4 c.18830+58_18830+65delAAATTTTC 0.521765 0.7718 Uncertain 2_65481008_A->C 2 65481008 65481008 A C snp 991.77 0/1 99 79 40 39 0.49 intronic rs268871 ACTR2 AU NM_001005386 exon6 c.25955+10A>C 0.786941 0.7748 0.836383 0.8187 0.7886 Uncertain 2_65481010_-->A 2 65481010 65481010 - A indel 1009.73 0/1 99 77 40 37 0.48 intronic rs201196839 ACTR2 AU NM_001005386 exon6 c.25955+12insA 0.00958466 0.0357 0.000160 0.0057 0.0417 Uncertain 2_65488538_G->A 2 65488538 65488538 G A snp 999.77 0/1 99 57 20 37 0.65 intronic rs268862 ACTR2 AU NM_001005386 exon8 c.33483+12G>A 0.813299 0.7768 0.865600 0.8269 0.7887 Uncertain 2_65492486_C->T 2 65492486 65492486 C T snp 95.77 0/1 99 11 7 4 0.36 intronic rs4671647 ACTR2 AU NM_001005386 exon9 c.37266+177C>T 0.364018 0.7034 Uncertain 2_65495570_A->C 2 65495570 65495570 A C snp 630.77 0/1 99 48 27 21 0.44 intronic rs55843720 ACTR2 AU NM_001005386 exon10 c.40654-127A>C 0.811701 0.7728 Uncertain 2_65495571_T->C 2 65495571 65495571 T C snp 623.77 0/1 99 48 27 21 0.44 intronic rs60931828 ACTR2 AU NM_001005386 exon10 c.40654-126T>C 0.811701 0.7728 Uncertain 2_65495573_-->C 2 65495573 65495573 - C indel 709.73 0/1 99 48 27 21 0.44 intronic rs398104377 ACTR2 AU NM_001005386 exon10 c.40654-124insC 0.811302 0.7728 Uncertain 2_65495887_G->A 2 65495887 65495887 G A snp 2925.77 0/1 99 241 119 122 0.51 UTR3 rs268875 ACTR2 AU 0.808307 0.7083 0.880249 0.8411 0.7101 Uncertain 2_65496018_C->G 2 65496018 65496018 C G snp 490.77 0/1 99 47 25 22 0.47 UTR3 rs11424 ACTR2 AU 0.398762 0.6994 Uncertain 2_65496058_A->G 2 65496058 65496058 A G snp 179.77 0/1 99 14 7 7 0.5 UTR3 rs17038564 ACTR2 AU 0.111022 0.2232 Uncertain 2_65540905_C->G 2 65540905 65540905 C G snp 6407.77 1/1 99 247 1 246 1.0 exonic rs8827 SPRED2 AU synonymous SNV NM_181784 exon6 c.G987C p.A329A 0.395367 0.755 0.221317 0.3473 0.7695 Uncertain 2_65559027_A->G 2 65559027 65559027 A G snp 1312.77 0/1 99 149 89 60 0.4 intronic rs2271198 SPRED2 AU NM_181784 exon3 c.18486-93A>G 0.712859 0.7817 Uncertain 2_65561392_C->T 2 65561392 65561392 C T snp 3269.77 0/1 99 250 130 120 0.48 intronic rs4671658 SPRED2 AU NM_181784 exon4 c.21104-346C>T 0.359026 0.6796 0.3861 0.6729 Uncertain 2_65604914_A->G 2 65604914 65604914 A G snp 1073.77 1/1 78 30 0 30 1.0 intronic rs268120 SPRED2 AU NM_001128210 exon6 c.53297+10983A>G 0.810104 0.9117 Uncertain 2_66665146_T->C 2 66665146 66665146 T C snp 2645.77 0/1 99 226 116 110 0.49 intronic rs2280334 MEIS1 AU NM_002398 exon2 c.2107+51T>C 0.565296 0.3929 0.626198 Uncertain 2_66667186_C->T 2 66667186 66667186 C T snp 66.77 0/1 95 7 4 3 0.43 ncRNA_intronic rs2271856 MEIS1-AS2 AU 0.530152 0.3829 0.6357 0.3770 Uncertain 2_66736111_T->A 2 66736111 66736111 T A snp 1425.77 0/1 99 107 52 55 0.51 intronic rs183840090 MEIS1 AU NM_002398 exon8 c.76292-3169T>A 0.000798722 0.004 0.0001 0.0021 0.01 T 1 D 0.782 D Uncertain 2_66798282_G->T 2 66798282 66798282 G T snp 175.77 0/1 99 14 8 6 0.43 intronic rs2861108 MEIS1 AU NM_002398 exon13 c.135389-95G>T 0.839657 0.7986 Uncertain 2_67630980_G->A 2 67630980 67630980 G A snp 1498.77 0/1 99 120 65 55 0.46 exonic rs3770657 ETAA1 AU nonsynonymous SNV NM_019002 exon5 c.G1166A p.S389N 0.732827 0.5685 0.761538 0.7030 0.5651 1 T 0.000 P -0.980 T 0.0 T 0.0 T Pathogenic 2_67631831_G->A 2 67631831 67631831 G A snp 750.77 0/1 99 72 42 30 0.42 exonic rs61740794 ETAA1 AU nonsynonymous SNV NM_019002 exon5 c.G2017A p.E673K 0.455671 0.505 0.412796 0.4531 0.5082 1 T 0.0 P -0.920 T 0.001 T 0.0 T Pathogenic 2_67632125_C->T 2 67632125 67632125 C T snp 1431.77 0/1 99 109 52 57 0.52 exonic rs3770655 ETAA1 AU nonsynonymous SNV NM_019002 exon5 c.C2311T p.P771S 0.745807 0.5685 0.775958 0.7077 0.5650 0.94 T 0.0 P -0.972 T 0.0 T 0.0 T Pathogenic 2_67632542_G->T 2 67632542 67632542 G T snp 80.77 0/1 99 6 3 3 0.5 intronic rs3770654 ETAA1 AU NM_019002 exon5 c.7887+75G>T 0.00439297 0.0208 Uncertain 2_67637196_G->A 2 67637196 67637196 G A snp 4573.77 1/1 99 173 0 173 1.0 UTR3 rs1569 ETAA1 AU 0.986022 1 0.963780 0.9660 0.9998 Uncertain 2_68270068_A->G 2 68270068 68270068 A G snp 110.77 0/1 99 16 6 10 0.63 exonic rs10444 C1D AU nonsynonymous SNV NM_006333 exon5 c.T379C p.S127P 0.315296 0.2976 0.236599 0.2236 0.2908 0.33 T 0.0 P -0.915 T 0.0 T 0.0 T Pathogenic 2_68270258_C->T 2 68270258 68270258 C T snp 111.77 0/1 99 18 11 7 0.39 intronic rs10207196 C1D AU NM_001190265 exon1 c.165+73C>T 0.292931 0.2927 Uncertain 2_68273159_T->C 2 68273159 68273159 T C snp 105.77 0/1 99 11 5 6 0.55 exonic rs190731290 C1D AU synonymous SNV NM_006333 exon4 c.A222G p.Q74Q 0.00459265 0.0139 0.0024 0.0130 Uncertain 2_68352515_A->C 2 68352515 68352515 A C snp 1198.77 0/1 99 115 70 45 0.39 intergenic rs6742154 C1D AU 0.439696 0.498 0.380712 0.4693 0.5162 Uncertain 2_68358341_T->C 2 68358341 68358341 T C snp 1046.77 0/1 99 91 49 42 0.46 UTR3 rs62145930 WDR92 AU 0.513578 0.496 0.424343 0.4693 0.5121 Uncertain 2_68358653_T->C 2 68358653 68358653 T C snp 178.77 0/1 99 24 15 9 0.38 intronic rs17035004 WDR92 AU NM_138458 exon1 c.208+76T>C 0.513578 0.496 Uncertain 2_68385097_A->G 2 68385097 68385097 A G snp 2159.77 0/1 99 183 95 88 0.48 exonic rs2044693 PNO1 AU nonsynonymous SNV NM_020143 exon1 c.A31G p.R11G 0.768371 0.6468 0.740612 0.7064 0.6621 0.4 T 0.0 P -1.026 T 0.0 T 0.0 T Pathogenic 2_68388823_A->G 2 68388823 68388823 A G snp 2309.77 0/1 99 230 115 115 0.5 exonic rs1137930 PNO1 AU synonymous SNV NM_020143 exon3 c.A366G p.K122K 0.339856 0.4881 0.244503 0.3567 0.5053 Uncertain 2_68389276_-->A 2 68389276 68389276 - A indel 193.73 0/1 99 35 23 12 0.34 intronic rs11402583 PNO1 AU NM_020143 exon4 c.4330-120insA 0.648363 0.5724 Uncertain 2_68389482_TT->- 2 68389482 68389483 TT - indel 2885.73 0/1 99 145 74 71 0.49 intronic rs3217588 PNO1 AU NM_020143 exon4 c.4391+25_4391+26delTT 0.304113 0.4772 0.197013 0.3050 0.4950 Uncertain 2_68415767_G->A 2 68415767 68415767 G A snp 821.77 0/1 99 113 71 42 0.37 exonic rs687 PPP3R1 AU synonymous SNV NM_000945 exon3 c.C99T p.D33D 0.515575 0.494 0.421582 0.4761 0.5133 Uncertain 2_68444171_-->ACGCAG 2 68444171 68444171 - ACGCAG indel 2372.73 0/1 99 52 22 30 0.58 intronic rs35225743 PPP3R1 AU NM_000945 exon5 c.36129-52insACGCAG 0.191187 Uncertain 2_68483396_A->T 2 68483396 68483396 A T snp 98.77 0/1 99 7 3 4 0.57 intergenic rs7593613 PPP3R1 AU 0.490016 0.501 Uncertain 2_68511507_A->- 2 68511507 68511507 A - indel 433.73 0/1 99 31 10 21 0.68 UTR3 rs5831925 CNRIP1 AU Uncertain 2_68511584_A->G 2 68511584 68511584 A G snp 741.77 0/1 99 38 11 27 0.71 exonic rs735815 CNRIP1 AU synonymous SNV NM_001111101 exon3 c.T363C p.S121S 0.394169 0.5516 0.358081 0.4347 0.535 Uncertain 2_68592584_T->C 2 68592584 68592584 T C snp 1413.77 0/1 99 151 87 64 0.42 intronic rs880668 PLEK AU NM_002664 exon1 c.42+59T>C 0.865415 0.9454 0.794350 Uncertain 2_68613710_G->A 2 68613710 68613710 G A snp 1057.77 0/1 99 85 46 39 0.46 exonic rs2070171 PLEK AU synonymous SNV NM_002664 exon5 c.G549A p.S183S 0.21226 0.1726 0.274181 0.2646 0.1569 Uncertain 2_68615450_A->G 2 68615450 68615450 A G snp 379.77 0/1 85 16 4 12 0.75 intronic rs546185152 PLEK AU NM_002664 exon6 c.23035-68A>G 0.000599042 0.003 Uncertain 2_68615654_T->C 2 68615654 68615654 T C snp 2028.77 0/1 99 185 99 86 0.46 intronic rs2241946 PLEK AU NM_002664 exon6 c.23140+31T>C 0.187101 0.1736 0.215593 0.2583 0.1584 Uncertain 2_68620410_T->A 2 68620410 68620410 T A snp 1209.77 0/1 99 116 64 52 0.45 intronic rs17602092 PLEK AU NM_002664 exon7 c.27894+33T>A 0.1877 0.1746 0.248039 0.2569 0.1578 Uncertain 2_68621338_G->T 2 68621338 68621338 G T snp 951.77 0/1 99 95 50 45 0.47 intronic rs17530191 PLEK AU NM_002664 exon8 c.28825+30G>T 0.224042 0.1905 0.287790 0.2775 0.1683 Uncertain 2_68621427_G->A 2 68621427 68621427 G A snp 137.77 0/1 99 23 16 7 0.3 intronic rs34196827 PLEK AU NM_002664 exon8 c.28825+119G>A 0.187899 0.1746 Uncertain 2_68622658_C->T 2 68622658 68622658 C T snp 46.77 0/1 73 6 3 3 0.5 intronic rs1373200 PLEK AU NM_002664 exon9 c.30328-153C>T 0.365615 0.2192 Uncertain 2_68622914_G->A 2 68622914 68622914 G A snp 1259.77 0/1 99 114 60 54 0.47 exonic rs1063479 PLEK AU nonsynonymous SNV NM_002664 exon9 c.G1019A p.R340K 0.857428 0.9315 0.792327 0.7864 0.9334 1 T 0.000 P -0.926 T 0.0 T 0.0 T Pathogenic 2_68622952_G->C 2 68622952 68622952 G C snp 824.77 0/1 99 82 44 38 0.46 UTR3 rs1050181 PLEK AU 0.367612 0.2192 0.474243 0.4056 0.1995 Uncertain 2_68695059_G->A 2 68695059 68695059 G A snp 158.77 0/1 97 10 5 5 0.5 intronic rs75670964 APLF AU NM_173545 exon1 c.96+100G>A 0.0273562 0.0357 Uncertain 2_68729931_A->G 2 68729931 68729931 A G snp 755.77 0/1 99 70 35 35 0.5 exonic rs112136813 APLF AU synonymous SNV NM_173545 exon3 c.A237G p.L79L 0.0273562 0.0357 0.027987 0.0311 0.0353 Uncertain 2_68729992_A->G 2 68729992 68729992 A G snp 877.77 0/1 99 84 41 43 0.51 exonic rs11902811 APLF AU nonsynonymous SNV NM_173545 exon3 c.A298G p.I100V 0.160543 0.0357 0.179379 0.0776 0.0352 1 T 0.000 P -0.935 T 0.0 T 0.0 T Pathogenic 2_68740135_T->A 2 68740135 68740135 T A snp 104.77 0/1 99 12 8 4 0.33 intronic rs76430755 APLF AU NM_173545 exon4 c.45348-76T>A 0.0267572 0.0317 Uncertain 2_68740598_G->A 2 68740598 68740598 G A snp 320.77 0/1 99 24 14 10 0.42 intronic rs77582797 APLF AU NM_173545 exon5 c.45816-81G>A 0.0265575 0.0317 Uncertain 2_68740602_G->C 2 68740602 68740602 G C snp 324.77 0/1 99 25 15 10 0.4 intronic rs75076249 APLF AU NM_173545 exon5 c.45816-77G>C 0.0265575 0.0317 Uncertain 2_68740903_ATAGAG->- 2 68740903 68740908 ATAGAG - indel 670.73 0/1 99 31 16 15 0.48 intronic rs139367623 APLF AU NM_173545 exon5 c.45949+91_45949+96delATAGAG 0.14996 0.0317 Uncertain 2_68753240_T->A 2 68753240 68753240 T A snp 1434.77 0/1 99 120 55 65 0.54 exonic rs35002937 APLF AU nonsynonymous SNV NM_173545 exon6 c.T670A p.S224T 0.229633 0.0367 0.271567 0.1543 0.0446 1 T 0.0 P -0.924 T 0.001 T 0.001 T Pathogenic 2_68794483_C->A 2 68794483 68794483 C A snp 430.77 0/1 99 57 36 21 0.37 exonic rs36021078 APLF AU nonsynonymous SNV NM_173545 exon9 c.C1297A p.Q433K 0.0267572 0.0317 0.026457 0.0307 0.0305 0.03 T 0.938 D -1.032 T 0.997 D 0.996 D Pathogenic 2_68794528_G->T 2 68794528 68794528 G T snp 449.77 0/1 99 39 19 20 0.51 intronic rs6751531 APLF AU NM_173545 exon9 c.99656+9G>T 0.229832 0.0367 0.265353 0.1560 0.0453 Uncertain 2_68873071_A->G 2 68873071 68873071 A G snp 2805.77 0/1 99 249 132 117 0.47 exonic rs7570797 PROKR1 AU nonsynonymous SNV NM_138964 exon1 c.A118G p.S40G 0.157947 0.0417 0.168153 0.0741 0.0347 0.57 T 0.0 P -0.947 T 0.0 T 0.0 T Pathogenic 2_69002281_C->G 2 69002281 69002281 C G snp 1518.77 0/1 99 114 59 55 0.48 UTR5 rs11685672 ARHGAP25 AU 0.205471 0.0714 0.279565 0.2605 0.0625 Uncertain 2_69034515_C->T 2 69034515 69034515 C T snp 1782.77 0/1 99 149 73 76 0.51 exonic rs3749130 ARHGAP25 AU nonsynonymous SNV NM_001166276 exon4 c.C556T p.R186W 0.00279553 0.0139 0.0005 0.0072 0 D 0.984 N -1.071 T 0.982 D 0.806 D Pathogenic 2_69043121_G->A 2 69043121 69043121 G A snp 141.03 1/1 12 4 0 4 1.0 intronic rs62133268 ARHGAP25 AU NM_001166277 exon6 c.81089-299G>A 0.230032 0.4097 Uncertain 2_69043265_T->- 2 69043265 69043265 T - indel 4092.73 1/1 99 143 1 142 0.99 intronic rs397871239 ARHGAP25 AU NM_001166277 exon6 c.81089-155delT 0.605831 0.8542 0.6336 0.8807 Uncertain 2_69043266_T->A 2 69043266 69043266 T A snp 3568.77 1/1 78 145 7 138 0.95 intronic rs78107572 ARHGAP25 AU NM_001166277 exon6 c.81089-154T>A 0.582468 0.8522 0.6436 0.8788 Uncertain 2_69043539_G->C 2 69043539 69043539 G C snp 558.77 1/1 42 19 0 19 1.0 intronic rs2271832 ARHGAP25 AU NM_001166277 exon6 c.81163+45G>C 0.583666 0.4921 0.646394 0.6529 0.5024 Uncertain 2_69045158_C->A 2 69045158 69045158 C A snp 1147.77 1/1 84 39 0 39 1.0 intronic rs10197806 ARHGAP25 AU NM_001166277 exon7 c.82795+32C>A 0.286142 0.4097 0.297939 0.3024 0.4418 Uncertain 2_69046719_G->A 2 69046719 69046719 G A snp 301.78 1/1 24 8 0 8 1.0 intronic rs17036006 ARHGAP25 AU NM_001166277 exon8 c.84120+268G>A 0.286142 0.4097 Uncertain 2_69049941_T->C 2 69049941 69049941 T C snp 4188.77 1/1 99 147 0 147 1.0 exonic rs10177248 ARHGAP25 AU nonsynonymous SNV NM_001166276 exon9 c.T1649C p.M550T 0.320088 0.4097 0.332282 0.3141 0.4435 0.42 T 1.000 P -0.910 T 0.0 T 0.0 T Pathogenic 2_69052991_A->G 2 69052991 69052991 A G snp 50.74 1/1 6 2 0 2 1.0 intronic rs2311421 ARHGAP25 AU NM_001166277 exon10 c.90787-127A>G 0.544928 0.8284 Uncertain 2_69093312_A->G 2 69093312 69093312 A G snp 2435.77 0/1 99 207 107 100 0.48 exonic rs2231344 BMP10 AU synonymous SNV NM_014482 exon2 c.T726C p.D242D 0.141773 0.1151 0.133631 0.0884 0.1221 Uncertain 2_69180161_T->A 2 69180161 69180161 T A snp 985.77 1/1 75 32 0 32 1.0 upstream rs7561266 GKN2 AU 0.615415 0.6369 Uncertain 2_69180239_C->T 2 69180239 69180239 C T snp 96.28 1/1 9 3 0 3 1.0 upstream rs7600351 GKN2 AU 0.635982 0.6369 Uncertain 2_69201501_G->A 2 69201501 69201501 G A snp 135.03 1/1 12 4 0 4 1.0 upstream rs4575760 GKN1 AU 0.814497 0.994 Uncertain 2_69201894_C->T 2 69201894 69201894 C T snp 3493.77 1/1 99 117 0 117 1.0 intronic rs4417751 GKN1 AU NM_019617 exon1 c.54+73C>T 0.660543 0.7212 0.629654 Uncertain 2_69201982_T->C 2 69201982 69201982 T C snp 216.84 1/1 18 7 0 7 1.0 intronic rs4430980 GKN1 AU NM_019617 exon1 c.54+161T>C 0.67472 0.7262 Uncertain 2_69297622_C->T 2 69297622 69297622 C T snp 233.8 1/1 21 8 0 8 1.0 intronic rs4591376 ANTXR1 AR,AD NM_018153 exon4 c.57147-156C>T 0.947684 0.9821 Uncertain 2_69298817_T->C 2 69298817 69298817 T C snp 1897.77 0/1 99 165 81 84 0.51 intronic rs13030844 ANTXR1 AR,AD NM_018153 exon5 c.58254-68T>C 0.351238 0.2163 0.438239 Uncertain 2_69317925_G->A 2 69317925 69317925 G A snp 5942.77 1/1 99 215 0 215 1.0 intronic rs4854546 ANTXR1 AR,AD NM_018153 exon9 c.77359-65G>A 0.942891 0.9821 0.916338 Uncertain 2_69318129_T->G 2 69318129 69318129 T G snp 1183.77 1/1 87 35 0 35 1.0 intronic rs4241348 ANTXR1 AR,AD NM_018153 exon9 c.77420+78T>G 0.952276 0.9831 Uncertain 2_69330118_A->G 2 69330118 69330118 A G snp 650.77 0/1 99 54 25 29 0.54 intronic rs6710260 ANTXR1 AR,AD NM_018153 exon10 c.89441+46A>G 0.361422 0.2222 0.338382 0.2169 0.2354 Uncertain 2_69330284_G->A 2 69330284 69330284 G A snp 125.78 0/1 27 5 1 4 0.8 intronic rs4241349 ANTXR1 AR,AD NM_018153 exon10 c.89441+212G>A 0.604633 0.751 Uncertain 2_69379614_G->A 2 69379614 69379614 G A snp 391.77 1/1 30 10 0 10 1.0 intronic rs34590960 ANTXR1 AR,AD NM_032208 exon13 c.138765+218G>A 0.588658 0.8849 Uncertain 2_69397157_G->A 2 69397157 69397157 G A snp 80.77 0/1 99 6 3 3 0.5 intronic rs10191848 ANTXR1 AR,AD NM_032208 exon14 c.156748-222G>A 0.352835 0.4266 Uncertain 2_69398263_G->A 2 69398263 69398263 G A snp 325.77 0/1 46 13 2 11 0.85 intronic rs4299364 ANTXR1 AR,AD NM_032208 exon14 c.156790+842G>A 0.271965 0.3056 Uncertain 2_69409029_C->A 2 69409029 69409029 C A snp 2725.77 1/1 99 92 0 92 1.0 intronic rs6749826 ANTXR1 AR,AD NM_032208 exon15 c.168382+16C>A 0.588458 0.7679 0.451638 0.4832 0.7607 Uncertain 2_69420591_-->CTCACACA 2 69420591 69420591 - CTCACACA indel 2068.73 ./1 99 45 1 44 0.98 intronic ANTXR1 AR,AD NM_032208 exon17 c.179916+44insCTCACACA Uncertain 2_69420591_-->CACACA 2 69420591 69420591 - CACACA indel 2068.73 ./1 99 45 1 44 0.98 intronic rs747343458 ANTXR1 AR,AD NM_032208 exon17 c.179916+44insCACACA 0.0172 0.0428 Uncertain 2_69420596_T->C 2 69420596 69420596 T C snp 1277.77 1/1 93 37 0 37 1.0 intronic rs7584057 ANTXR1 AR,AD NM_032208 exon17 c.179916+49T>C 0.712061 0.8958 0.430340 0.5512 0.8772 Uncertain 2_69741609_C->T 2 69741609 69741609 C T snp 1114.77 1/1 81 43 0 43 1.0 exonic rs2276689 AAK1 AU synonymous SNV NM_014911 exon13 c.G1770A p.E590E 0.321286 0.5079 0.265606 0.3925 0.5015 Uncertain 2_69741754_TGT->- 2 69741754 69741756 TGT - indel 4128.73 1/1 99 82 0 82 1.0 exonic rs3832159 AAK1 AU nonframeshift deletion NM_014911 exon13 c.1623_1625del p.541_542del 0.355831 0.5129 0.342211 0.4689 0.5822 ID=COSM1318883,COSM1318884;OCCURENCE=1(haematopoietic_and_lymphoid_tissue),1(skin) Uncertain 2_69741854_T->G 2 69741854 69741854 T G snp 3298.77 1/1 99 115 1 114 0.99 exonic rs6715776 AAK1 AU nonsynonymous SNV NM_014911 exon13 c.A1525C p.K509Q 1 1 1.0000 1 1 T 0.0 P -0.962 T 0.0 T 0.0 T Pathogenic 2_69742067_T->A 2 69742067 69742067 T A snp 139.03 1/1 12 4 0 4 1.0 intronic rs12469876 AAK1 AU NM_014911 exon10 c.38881+186T>A 0.355631 0.5119 Uncertain 2_69747817_G->C 2 69747817 69747817 G C snp 141.03 1/1 12 4 0 4 1.0 intronic rs2312211 AAK1 AU NM_014911 exon12 c.44965-148G>C 0.637979 0.7579 Uncertain 2_69759415_G->A 2 69759415 69759415 G A snp 1717.77 1/1 99 55 0 55 1.0 intronic rs2276687 AAK1 AU NM_014911 exon17 c.56294+121G>A 0.63778 0.7579 Uncertain 2_69771484_C->T 2 69771484 69771484 C T snp 3422.77 1/1 99 111 0 111 1.0 intronic rs3771544 AAK1 AU NM_014911 exon19 c.68567-83C>T 0.59365 0.751 0.4868 0.7682 Uncertain 2_69784255_C->T 2 69784255 69784255 C T snp 511.77 0/1 99 37 18 19 0.51 intronic rs3771543 AAK1 AU NM_014911 exon20 c.81110+145C>T 0.277756 0.4841 Uncertain 2_69784278_T->C 2 69784278 69784278 T C snp 589.77 1/1 45 17 0 17 1.0 intronic rs3821277 AAK1 AU NM_014911 exon20 c.81110+168T>C 0.647364 0.756 Uncertain 2_70031797_C->G 2 70031797 70031797 C G snp 1005.77 0/1 99 68 31 37 0.54 intronic rs3771541 ANXA4 AU NM_001153 exon4 c.23062+38C>G 0.656749 0.6677 0.580065 0.5322 0.6691 Uncertain 2_70033584_C->T 2 70033584 70033584 C T snp 1615.77 0/1 99 134 68 66 0.49 exonic rs2228203 ANXA4 AU nonsynonymous SNV NM_001153 exon5 c.C260T p.T87M 0.200679 0.1736 0.230278 0.1872 0.1980 0.725 P -0.893 T 0.047 T 0.017 T Pathogenic 2_70033649_G->A 2 70033649 70033649 G A snp 716.77 0/1 99 65 36 29 0.45 intronic rs17037076 ANXA4 AU NM_001153 exon5 c.24933+19G>A 0.286342 0.1736 0.316162 0.2128 0.1998 Uncertain 2_70034793_A->G 2 70034793 70034793 A G snp 50.74 1/1 6 2 0 2 1.0 intronic rs2168115 ANXA4 AU NM_001153 exon6 c.26340-244A>G 0.648163 0.6677 Uncertain 2_70039677_A->C 2 70039677 70039677 A C snp 137.77 0/1 99 8 3 5 0.63 intronic rs2305523 ANXA4 AU NM_001153 exon8 c.31087-107A>C 0.65016 0.6696 Uncertain 2_70057448_T->G 2 70057448 70057448 T G snp 158.77 0/1 90 9 4 5 0.56 intronic rs3732266 GMCL1 AU NM_178439 exon1 c.260+164T>G 0.65615 0.6706 Uncertain 2_70064927_C->A 2 70064927 70064927 C A snp 778.77 0/1 99 72 38 34 0.47 intronic rs1377996 GMCL1 AU NM_178439 exon2 c.7778+125C>A 0.295327 0.2748 Uncertain 2_70066571_-->TT 2 70066571 70066571 - TT indel 321.73 0/1 99 31 18 13 0.42 intronic rs3832156 GMCL1 AU NM_178439 exon3 c.9564-17insTT 0.183506 0.1766 0.203153 0.2231 0.2203 Uncertain 2_70066891_A->C 2 70066891 70066891 A C snp 65.77 0/1 67 5 2 3 0.6 intronic rs11888098 GMCL1 AU NM_178439 exon3 c.9661+206A>C 0.183706 0.1766 Uncertain 2_70068057_G->A 2 70068057 70068057 G A snp 637.77 0/1 99 41 15 26 0.63 intronic rs3771533 GMCL1 AU NM_178439 exon4 c.11049-16G>A 0.183706 0.1766 0.215439 0.1909 0.1999 Uncertain 2_70068259_T->- 2 70068259 70068259 T - indel 183.73 0/1 77 12 3 9 0.75 intronic rs3836157 GMCL1 AU NM_178439 exon4 c.11147+88delT 0.65595 0.6667 Uncertain 2_70076954_A->T 2 70076954 70076954 A T snp 309.77 0/1 99 21 9 12 0.57 intronic rs4852349 GMCL1 AU NM_178439 exon8 c.19850+80A>T 0.68151 0.6706 Uncertain 2_70098808_A->G 2 70098808 70098808 A G snp 154.77 0/1 99 16 8 8 0.5 intronic rs3214007 GMCL1 AU NM_178439 exon13 c.41852-68A>G 0.679712 0.6677 Uncertain 2_70120910_A->- 2 70120910 70120910 A - indel 162.73 0/1 99 13 7 6 0.46 upstream rs3214822 SNRNP27 AU 0.377796 0.3304 Uncertain 2_70121197_T->C 2 70121197 70121197 T C snp 620.77 0/1 99 36 13 23 0.64 intronic rs2278934 SNRNP27 AU NM_006857 exon1 c.34+47T>C 0.382987 0.3313 0.316623 0.2971 0.3475 Uncertain 2_70131320_-->T 2 70131320 70131320 - T indel 146.73 0/1 98 16 6 10 0.63 intronic rs35836496 SNRNP27 AU NM_006857 exon6 c.10269-65insT 0.350639 0.3433 Uncertain 2_70162534_T->G 2 70162534 70162534 T G snp 1189.77 0/1 99 122 64 58 0.48 exonic rs2228183 MXD1 AU synonymous SNV NM_001202514 exon3 c.T225G p.L75L 0.583866 0.5407 0.547440 0.4799 0.5702 Uncertain 2_70164034_T->C 2 70164034 70164034 T C snp 1588.77 0/1 99 127 63 64 0.5 intronic rs3771531 MXD1 AU NM_001202514 exon4 c.21904-332T>C 0.58726 0.5456 Uncertain 2_70187727_A->C 2 70187727 70187727 A C snp 567.77 0/1 99 38 17 21 0.55 UTR3 rs12464297 ASPRV1 AU 0.388978 0.4405 Uncertain 2_70187734_C->A 2 70187734 70187734 C A snp 562.77 0/1 99 39 18 21 0.54 UTR3 rs75427851 ASPRV1 AU 0.0395367 0.0665 Uncertain 2_70188676_T->C 2 70188676 70188676 T C snp 2114.77 0/1 99 164 81 83 0.51 exonic rs3796097 ASPRV1 AU nonsynonymous SNV NM_152792 exon1 c.A145G p.T49A 0.698083 0.6815 0.631478 0.5972 0.6955 0.32 T 0.0 P -1.018 T 0.002 T 0.001 T Pathogenic 2_70457784_-->A 2 70457784 70457784 - A indel 61.79 0/1 19 9 2 7 0.78 intronic rs200532251 TIA1 AR,AD NM_022037 exon10 c.18037-103insA 0.429113 0.4911 Uncertain 2_70475827_T->G 2 70475827 70475827 T G snp 263.77 0/1 99 13 5 8 0.62 upstream rs72841156 TIA1 AR,AD 0.0852636 0.1627 Uncertain 2_70485320_C->T 2 70485320 70485320 C T snp 932.77 0/1 99 74 29 45 0.61 exonic rs11556184 PCYOX1 AU synonymous SNV NM_016297 exon1 c.C24T p.L8L 0.0688898 0.1617 0.050138 0.0818 0.2019 Uncertain 2_70486407_T->C 2 70486407 70486407 T C snp 71.77 0/1 99 11 8 3 0.27 intronic rs750156 PCYOX1 AU NM_016297 exon2 c.1195-84T>C 0.0924521 0.1637 Uncertain 2_70486475_-->T 2 70486475 70486475 - T indel 299.73 0/1 99 48 33 15 0.31 intronic rs3214762 PCYOX1 AU NM_016297 exon2 c.1195-16insT 0.076026 0.0794 0.1941 Uncertain 2_70502811_-->TCTG 2 70502811 70502811 - TCTG indel 2512.73 0/1 99 92 49 43 0.47 intronic rs112551993 PCYOX1 AU NM_016297 exon5 c.17502+13insTCTG 0.0690895 0.1637 0.049992 0.0751 0.1972 Uncertain 2_70502930_A->G 2 70502930 70502930 A G snp 44.74 1/1 6 2 0 2 1.0 intronic rs17005439 PCYOX1 AU NM_016297 exon5 c.17502+132A>G 0.471845 0.4831 Uncertain 2_70520498_A->G 2 70520498 70520498 A G snp 364.77 0/1 99 19 8 11 0.58 intronic rs2272532 SNRPG AU NM_003096 exon4 c.11984-251A>G 0.124401 0.1637 Uncertain 2_70520846_C->T 2 70520846 70520846 C T snp 198.77 0/1 99 16 9 7 0.44 UTR5 rs15656 SNRPG AU 0.0690895 0.1607 0.053876 Uncertain 2_70520875_C->T 2 70520875 70520875 C T snp 41.77 0/1 66 4 2 2 0.5 upstream rs4567961 SNRPG AU 0.126398 0.1637 Uncertain 2_70524268_T->G 2 70524268 70524268 T G snp 70.77 0/1 99 11 7 4 0.36 UTR3 rs80198161 FAM136A AU Uncertain 2_70524304_G->A 2 70524304 70524304 G A snp 76.77 0/1 99 22 16 6 0.27 UTR3 rs75344193 FAM136A AU Uncertain 2_70524306_T->G 2 70524306 70524306 T G snp 75.77 0/1 99 23 17 6 0.26 UTR3 rs76030446 FAM136A AU Uncertain 2_70524320_C->A 2 70524320 70524320 C A snp 143.77 0/1 99 32 24 8 0.25 UTR3 rs74403173 FAM136A AU Uncertain 2_70524333_G->A 2 70524333 70524333 G A snp 229.77 0/1 99 43 31 12 0.28 UTR3 rs75462642 FAM136A AU Uncertain 2_70524351_A->T 2 70524351 70524351 A T snp 359.77 0/1 99 61 40 21 0.34 UTR3 rs76094877 FAM136A AU Uncertain 2_70524359_T->C 2 70524359 70524359 T C snp 440.77 0/1 99 67 44 23 0.34 UTR3 FAM136A AU Uncertain 2_70524368_C->T 2 70524368 70524368 C T snp 445.77 0/1 99 79 56 23 0.29 UTR3 rs74887001 FAM136A AU Uncertain 2_70524369_T->C 2 70524369 70524369 T C snp 453.77 0/1 99 79 56 23 0.29 UTR3 FAM136A AU Uncertain 2_70524396_C->T 2 70524396 70524396 C T snp 631.77 0/1 99 111 78 33 0.3 UTR3 rs77117086 FAM136A AU 0.0010 0.0007 Uncertain 2_70524416_T->G 2 70524416 70524416 T G snp 616.77 0/1 99 131 95 36 0.27 UTR3 rs77938271 FAM136A AU 0.0006 0.0005 Uncertain 2_70524427_T->C 2 70524427 70524427 T C snp 594.77 0/1 99 141 106 35 0.25 exonic rs78213014 FAM136A AU synonymous SNV NM_032822 exon3 c.A411G p.G137G 0.0013 0.0002 Uncertain 2_70524433_T->G 2 70524433 70524433 T G snp 600.77 0/1 99 143 108 35 0.24 exonic rs79236443 FAM136A AU synonymous SNV NM_032822 exon3 c.A405C p.S135S 0.0012 0.0002 Uncertain 2_70524437_A->G 2 70524437 70524437 A G snp 670.77 0/1 99 146 109 37 0.25 exonic rs77747732 FAM136A AU nonsynonymous SNV NM_032822 exon3 c.T401C p.L134S 0.0012 0.0002 1 T 0.995 N -0.979 T 0.0 T 0.001 T Pathogenic 2_70524444_C->G 2 70524444 70524444 C G snp 683.77 0/1 99 153 115 38 0.25 exonic rs78704688 FAM136A AU nonsynonymous SNV NM_032822 exon3 c.G394C p.A132P 0.0012 0.0002 0.23 T 0.906 N -1.006 T 0.004 T 0.009 T Pathogenic 2_70524451_C->T 2 70524451 70524451 C T snp 664.77 0/1 99 156 119 37 0.24 exonic rs779170909 FAM136A AU nonsynonymous SNV NM_032822 exon3 c.G387A p.M129I 0.0012 0.0002 0.37 T 0.943 D -0.981 T 0.001 T 0.009 T Pathogenic 2_70524452_A->G 2 70524452 70524452 A G snp 668.77 0/1 99 156 119 37 0.24 exonic rs80277652 FAM136A AU nonsynonymous SNV NM_032822 exon3 c.T386C p.M129T 0.0012 0.0002 0 D 0.994 D -0.371 T 0.372 T 0.312 T Pathogenic 2_70524478_G->A 2 70524478 70524478 G A snp 866.77 0/1 99 175 123 52 0.3 exonic rs75143374 FAM136A AU synonymous SNV NM_032822 exon3 c.C360T p.H120H 0.0006 0.0001 Uncertain 2_70524511_A->G 2 70524511 70524511 A G snp 621.77 0/1 99 184 144 40 0.22 exonic rs201608469 FAM136A AU synonymous SNV NM_032822 exon3 c.T327C p.S109S Uncertain 2_70524513_T->C 2 70524513 70524513 T C snp 624.77 0/1 99 186 146 40 0.22 exonic rs199941425 FAM136A AU nonsynonymous SNV NM_032822 exon3 c.A325G p.S109G 0.53 T 0.994 N -1.042 T 0.0 T 0.0 T Pathogenic 2_70524514_G->A 2 70524514 70524514 G A snp 619.77 0/1 99 184 143 41 0.22 exonic rs200691537 FAM136A AU synonymous SNV NM_032822 exon3 c.C324T p.D108D Uncertain 2_70524515_T->A 2 70524515 70524515 T A snp 624.77 0/1 99 183 143 40 0.22 exonic rs201866753 FAM136A AU nonsynonymous SNV NM_032822 exon3 c.A323T p.D108V 0.03 T 1 D -0.302 T 0.824 T 0.643 P Pathogenic 2_70524576_C->G 2 70524576 70524576 C G snp 501.77 0/1 99 156 123 33 0.21 exonic rs75086964 FAM136A AU nonsynonymous SNV NM_032822 exon3 c.G262C p.D88H 0.0531 0.0633 0.01 T 1 D 0.289 D 1.0 D 0.993 D Pathogenic 2_70524606_G->A 2 70524606 70524606 G A snp 267.77 0/1 99 149 127 22 0.15 exonic rs79696069 FAM136A AU nonsynonymous SNV NM_032822 exon3 c.C232T p.R78C 0.0125 0.0134 0.02 T 1 D -0.366 T 0.641 T 0.359 P Pathogenic 2_70528601_T->C 2 70528601 70528601 T C snp 1631.77 0/1 99 147 76 71 0.48 intronic rs2279158 FAM136A AU NM_032822 exon3 c.4636-455T>C 0.20647 0.1617 0.0973 0.1650 Uncertain 2_70676639_A->G 2 70676639 70676639 A G snp 1089.77 0/1 99 98 46 52 0.53 UTR3 TGFA AU 0.313498 0.3264 Uncertain 2_70780081_C->G 2 70780081 70780081 C G snp 80.77 0/1 99 6 3 3 0.5 intronic TGFA AU NM_003236 exon6 c.102869-778C>G 0.296126 0.2371 Uncertain 2_70995233_G->A 2 70995233 70995233 G A snp 219.84 1/1 18 7 0 7 1.0 UTR5 ADD2 AU 0.297125 0.4454 Uncertain 2_71004368_A->G 2 71004368 71004368 A G snp 44.74 1/1 6 2 0 2 1.0 downstream FIGLA AU 0.729233 0.9077 Uncertain 2_71004492_T->C 2 71004492 71004492 T C snp 403.77 1/1 30 15 1 14 0.93 UTR3 FIGLA AU 0.326478 0.6062 0.3564 0.6889 Uncertain 2_71004494_A->T 2 71004494 71004494 A T snp 401.77 1/1 30 15 0 15 1.0 UTR3 FIGLA AU 0.326478 0.6062 0.3569 0.6885 Uncertain 2_71012604_G->A 2 71012604 71012604 G A snp 3291.77 1/1 99 116 0 116 1.0 exonic FIGLA AU synonymous SNV NM_001004311 exon3 c.C552T p.H184H 0.797724 0.9067 0.675008 0.6479 0.9106 Uncertain 2_71012734_C->G 2 71012734 71012734 C G snp 2307.77 1/1 99 85 0 85 1.0 exonic FIGLA AU nonsynonymous SNV NM_001004311 exon3 c.G422C p.S141T 0.762979 0.9077 0.626685 0.6231 0.9106 0.95 T 0.0 P -0.942 T 0.0 T 0.0 T Pathogenic 2_71017516_A->G 2 71017516 71017516 A G snp 2937.77 1/1 99 102 0 102 1.0 intronic FIGLA AU NM_001004311 exon5 c.13041-23A>G 0.421126 0.6081 0.198001 0.3684 0.6233 Uncertain 2_71036082_G->A 2 71036082 71036082 G A snp 161.77 0/1 97 10 3 7 0.7 UTR3 rs2287100 CLEC4F AU 0.144169 0.2391 Uncertain 2_71036190_A->- 2 71036190 71036190 A - indel 824.73 0/1 99 76 52 24 0.32 UTR3 rs149426278 CLEC4F AU 0.180112 0.1062 0.2783 0.1032 Uncertain 2_71036482_T->C 2 71036482 71036482 T C snp 188.77 0/1 99 31 23 8 0.26 exonic rs2287101 CLEC4F AU nonsynonymous SNV NM_173535 exon7 c.A1691G p.K564R 0.182708 0.2391 0.126326 0.0987 0.2717 0.34 T 0.0 P -1.025 T 0.0 T 0.0 T Pathogenic 2_71058230_T->A 2 71058230 71058230 T A snp 810.77 0/1 99 68 33 35 0.51 exonic CD207 AU nonsynonymous SNV NM_015717 exon6 c.A938T p.K313I 0.129593 0.1369 0.086824 0.0729 0.1160 0.39 T 0.0 P -1.031 T 0.0 T 0.0 T ID=CM1313064;DIS=Altered sugar binding activity;TAG=FP;PUB=24217250 FP Pathogenic 2_71058306_T->C 2 71058306 71058306 T C snp 759.77 0/1 99 69 37 32 0.46 exonic CD207 AU nonsynonymous SNV NM_015717 exon6 c.A862G p.N288D 0.129593 0.1369 0.087107 0.0729 0.1163 0.28 T 0.634 P -1.037 T 0.189 T 0.199 T ID=CM061677;DIS=Altered sugar binding activity;TAG=FP;PUB=16567809 FP Pathogenic 2_71058795_G->A 2 71058795 71058795 G A snp 771.77 0/1 99 59 32 27 0.46 intronic CD207 AU NM_015717 exon2 c.651-36G>A 0.129593 0.1369 0.078707 0.0727 0.1152 Uncertain 2_71058811_C->G 2 71058811 71058811 C G snp 1002.77 0/1 99 80 41 39 0.49 intronic CD207 AU NM_015717 exon2 c.651-20C>G 0.129992 0.1369 0.085964 0.0729 0.1153 Uncertain 2_71058835_A->G 2 71058835 71058835 A G snp 1246.77 0/1 99 106 56 50 0.47 exonic CD207 AU nonsynonymous SNV NM_015717 exon5 c.T833C p.V278A 0.545327 0.6548 0.437219 0.4755 0.6423 0.5 T 0.0 P -0.960 T 0.0 T 0.0 T Pathogenic 2_71058906_G->T 2 71058906 71058906 G T snp 2136.77 0/1 99 209 109 100 0.48 exonic CD207 AU synonymous SNV NM_015717 exon5 c.C762A p.G254G 0.129393 0.1379 0.085455 0.0727 0.1150 Uncertain 2_71059153_A->G 2 71059153 71059153 A G snp 40.77 0/1 69 6 4 2 0.33 intronic CD207 AU NM_015717 exon2 c.770+203A>G 0.129193 0.1369 Uncertain 2_71060037_A->G 2 71060037 71060037 A G snp 639.77 0/1 99 49 26 23 0.47 exonic CD207 AU synonymous SNV NM_015717 exon4 c.T711C p.S237S 0.172923 0.1379 0.135822 0.1053 0.1153 Uncertain 2_71060733_A->C 2 71060733 71060733 A C snp 580.77 0/1 99 39 20 19 0.49 intronic CD207 AU NM_015717 exon4 c.2596-43A>C 0.136182 0.1379 0.093818 0.1001 0.1204 Uncertain 2_71061001_T->A 2 71061001 71061001 T A snp 1972.77 0/1 99 188 107 81 0.43 exonic CD207 AU nonsynonymous SNV NM_015717 exon3 c.A341T p.E114V 0.139776 0.1379 0.103012 0.0933 0.1165 0.25 T 0.0 P -0.989 T 0.0 T 0.0 T Pathogenic 2_71061051_C->T 2 71061051 71061051 C T snp 1632.77 0/1 99 132 66 66 0.5 exonic CD207 AU synonymous SNV NM_015717 exon3 c.G291A p.K97K 0.120807 0.1369 0.076948 0.0723 0.1178 Uncertain 2_71062648_G->A 2 71062648 71062648 G A snp 555.77 0/1 99 46 23 23 0.5 exonic CD207 AU nonsynonymous SNV NM_015717 exon2 c.C164T p.A55V 0.284345 0.3075 0.283191 0.3287 0.2802 0.66 T 0.0 P -0.945 T 0.267 T 0.115 T Pathogenic 2_71062833_-->C 2 71062833 71062833 - C indel 5753.73 1/1 99 137 0 137 1.0 splicing rs11450450 CD207 AU NM_015717 exon6 c.4653insC 1 1 1 1 Pathogenic 2_71148045_C->T 2 71148045 71148045 C T snp 264.8 1/1 21 7 0 7 1.0 intronic VAX2 AU NM_012476 exon2 c.20476-182C>T 0.822684 0.8403 Uncertain 2_71159779_C->A 2 71159779 71159779 C A snp 40.74 1/1 6 3 0 3 1.0 intronic VAX2 AU NM_012476 exon3 c.32145-117C>A 0.178115 0.2252 Uncertain 2_71160222_C->G 2 71160222 71160222 C G snp 1418.77 0/1 99 113 52 61 0.54 exonic VAX2 AU nonsynonymous SNV NM_012476 exon3 c.C761G p.P254R 0.175919 0.2262 0.104798 0.1265 0.2597 0 D 0.999 P -0.974 T 0.006 T 0.006 T Pathogenic 2_71160421_G->C 2 71160421 71160421 G C snp 901.77 0/1 99 83 49 34 0.41 UTR3 VAX2 AU 0.346446 0.4633 Uncertain 2_71162996_A->G 2 71162996 71162996 A G snp 2016.77 1/1 99 72 0 72 1.0 upstream ATP6V1B1 AR 0.530351 0.5466 Uncertain 2_71163051_C->T 2 71163051 71163051 C T snp 1287.77 0/1 99 138 75 63 0.46 UTR5 ATP6V1B1 AR 0.171526 0.2073 0.109274 0.1221 0.2385 Uncertain 2_71163086_T->C 2 71163086 71163086 T C snp 1651.77 0/1 99 167 88 79 0.47 exonic ATP6V1B1 AR nonsynonymous SNV NM_001692 exon1 c.T2C p.M1T 0.36881 0.3591 0.415039 0.4095 0.3899 0 D 0.000 P -1.075 T 0.826 T 0.599 P CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000037207.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 2_71163111_T->C 2 71163111 71163111 T C snp 1579.77 0/1 99 167 90 77 0.46 exonic ATP6V1B1 AR synonymous SNV NM_001692 exon1 c.T27C p.P9P 0.171126 0.2073 0.110257 0.1215 0.2415 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000037206.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 2_71163173_C->T 2 71163173 71163173 C T snp 1671.77 0/1 99 137 61 76 0.55 exonic ATP6V1B1 AR nonsynonymous SNV NM_001692 exon1 c.C89T p.T30I 0.158546 0.1865 0.158542 0.1802 0.2222 0.15 T 1.000 P -1.098 T 0.0 T 0.001 T CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000037210.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 ID=CM1414331;DIS=Renal tubular acidosis;TAG=DM?;PUB=25285676 DM? Pathogenic 2_71163225_C->T 2 71163225 71163225 C T snp 516.77 0/1 99 67 45 22 0.33 intronic ATP6V1B1 AR NM_001692 exon1 c.118+23C>T 0.377796 0.3581 0.422113 0.4069 0.3789 Uncertain 2_71170807_C->T 2 71170807 71170807 C T snp 1141.77 0/1 99 87 38 49 0.56 exonic ATP6V1B1 AR synonymous SNV NM_001692 exon2 c.C138T p.S46S 0.279553 0.5258 0.156774 0.2407 0.5480 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000037204.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 2_71175645_G->A 2 71175645 71175645 G A snp 987.77 0/1 99 86 45 41 0.48 ncRNA_exonic ATP6V1B1-AS1 AU 0.201677 0.1776 Uncertain 2_71175716_A->G 2 71175716 71175716 A G snp 66.77 0/1 95 9 6 3 0.33 ncRNA_exonic ATP6V1B1-AS1 AU 0.201677 0.1895 Uncertain 2_71185391_A->C 2 71185391 71185391 A C snp 4346.77 1/1 99 154 2 152 0.99 intronic ATP6V1B1 AR NM_001692 exon4 c.22378-71A>C 0.465455 0.6915 Uncertain 2_71186382_G->A 2 71186382 71186382 G A snp 769.77 1/1 57 24 0 24 1.0 intronic ATP6V1B1 AR NM_001692 exon5 c.23141+157G>A 0.446685 0.6518 Uncertain 2_71187911_G->A 2 71187911 71187911 G A snp 129.03 1/1 12 4 0 4 1.0 intronic ATP6V1B1 AR NM_001692 exon7 c.24966-139G>A 0.438698 0.6538 Uncertain 2_71188315_G->A 2 71188315 71188315 G A snp 351.78 1/1 27 9 0 9 1.0 intronic ATP6V1B1 AR NM_001692 exon7 c.25068+163G>A 0.438498 0.6538 Uncertain 2_71190384_C->T 2 71190384 71190384 C T snp 6733.77 1/1 99 250 2 248 0.99 exonic ATP6V1B1 AR synonymous SNV NM_001692 exon10 c.C1002T p.R334R 0.4375 0.6548 0.358296 0.4690 0.6537 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000037201.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 2_71190545_G->A 2 71190545 71190545 G A snp 948.77 1/1 69 26 0 26 1.0 intronic ATP6V1B1 AR NM_001692 exon10 c.27358+103G>A 0.438299 0.6567 Uncertain 2_71191777_C->T 2 71191777 71191777 C T snp 1281.77 1/1 96 33 0 33 1.0 intronic ATP6V1B1 AR NM_001692 exon13 c.28781-88C>T 0.415136 0.6548 Uncertain 2_71205976_A->G 2 71205976 71205976 A G snp 157.77 0/1 99 18 10 8 0.44 intronic ANKRD53 AU NM_024933 exon1 c.170+31A>G 0.609625 0.4792 0.622488 0.6706 0.6003 Uncertain 2_71206058_A->C 2 71206058 71206058 A C snp 47.77 0/1 33 4 1 3 0.75 intronic rs1115050 ANKRD53 AU NM_024933 exon1 c.170+113A>C 0.672125 0.4812 Uncertain 2_71211989_A->G 2 71211989 71211989 A G snp 2858.77 0/1 99 250 144 106 0.42 exonic ANKRD53 AU synonymous SNV NM_001115116 exon6 c.A1152G p.T384T 0.673323 0.4782 0.680902 0.6818 0.4733 Uncertain 2_71297750_G->C 2 71297750 71297750 G C snp 996.77 0/1 99 88 46 42 0.48 intronic rs75589581 NAGK AU NM_017567 exon2 c.2041+34G>C 0.00259585 0.0129 0.0019 0.0256 Uncertain 2_71297982_C->T 2 71297982 71297982 C T snp 2983.77 0/1 99 249 120 129 0.52 intronic rs2287327 NAGK AU NM_017567 exon3 c.2294+13C>T 0.436502 0.3978 0.395433 0.3690 0.3999 Uncertain 2_71300814_G->A 2 71300814 71300814 G A snp 338.77 0/1 99 26 12 14 0.54 intronic rs2302796 NAGK AU NM_017567 exon6 c.5049+90G>A 0.0479233 0.0556 Uncertain 2_71303905_T->C 2 71303905 71303905 T C snp 388.77 0/1 99 51 33 18 0.35 intronic rs114031757 NAGK AU NM_017567 exon8 c.8156+74T>C 0.014976 0.0169 Uncertain 2_71305267_T->C 2 71305267 71305267 T C snp 793.77 1/1 60 21 0 21 1.0 intronic rs10187472 NAGK AU NM_017567 exon10 c.9772-180T>C 0.679113 0.997 Uncertain 2_71305456_C->T 2 71305456 71305456 C T snp 5644.77 1/1 99 207 0 207 1.0 exonic rs6713 NAGK AU synonymous SNV NM_017567 exon10 c.C991T p.L331L 0.829872 0.999 0.736352 0.7424 0.9985 0.0 P -1.023 T Likely benign 2_71305812_A->C 2 71305812 71305812 A C snp 36.77 0/1 65 5 3 2 0.4 UTR3 rs77436320 NAGK AU 0.131989 0.4891 Uncertain 2_71357807_G->A 2 71357807 71357807 G A snp 1832.77 0/1 99 173 85 88 0.51 exonic rs78215199 MPHOSPH10 AU synonymous SNV NM_005791 exon1 c.G12A p.Q4Q 0.00279553 0.0139 0.0024 0.0278 Uncertain 2_71360723_A->G 2 71360723 71360723 A G snp 1402.77 1/1 99 52 0 52 1.0 intronic rs1813159 MPHOSPH10 AU NM_005791 exon2 c.2911+17A>G 0.888179 0.998 0.825348 0.8715 0.9993 Uncertain 2_71360735_-->TCC 2 71360735 71360735 - TCC indel 484.73 0/1 99 39 20 19 0.49 intronic rs113665017 MPHOSPH10 AU NM_005791 exon2 c.2911+29insTCC 0.897564 0.9841 0.819177 0.8662 0.9702 Uncertain 2_71361904_T->G 2 71361904 71361904 T G snp 349.77 0/1 99 20 8 12 0.6 exonic rs144162265 MPHOSPH10 AU nonsynonymous SNV NM_005791 exon4 c.T1075G p.S359A 0.00279553 0.0139 0.0020 0.0249 0.43 T 1.000 D -1.132 T 0.997 D 0.994 D Pathogenic 2_71365805_A->G 2 71365805 71365805 A G snp 1355.77 0/1 99 130 65 65 0.5 intronic rs79477128 MPHOSPH10 AU NM_005791 exon5 c.7966+44A>G 0.117412 0.4355 0.011919 0.0760 0.4547 Uncertain 2_71366957_C->A 2 71366957 71366957 C A snp 564.77 0/1 99 49 26 23 0.47 exonic rs3732240 MPHOSPH10 AU nonsynonymous SNV NM_005791 exon6 c.C1273A p.L425M 0.116613 0.4345 0.011533 0.0625 0.4240 0.02 T 1.000 P -0.945 T 1.0 D 0.998 D Pathogenic 2_71415479_T->C 2 71415479 71415479 T C snp 394.77 1/1 30 11 0 11 1.0 UTR3 rs357780 PAIP2B AU 0.943291 0.997 Uncertain 2_71415875_C->G 2 71415875 71415875 C G snp 50.74 1/1 6 2 0 2 1.0 intronic rs8179641 PAIP2B AU NM_020459 exon1 c.57+210C>G 0.151957 0.5427 Uncertain 2_71417065_G->T 2 71417065 71417065 G T snp 3976.77 1/1 99 144 0 144 1.0 exonic rs357777 PAIP2B AU synonymous SNV NM_020459 exon3 c.C225A p.P75P 0.957668 0.997 0.923772 0.9346 0.9974 Uncertain 2_71592444_G->T 2 71592444 71592444 G T snp 56.74 1/1 6 2 0 2 1.0 intronic rs2542511 ZNF638 AU NM_014497 exon6 c.16474-114G>T 0.886182 0.8462 Uncertain 2_71615571_C->T 2 71615571 71615571 C T snp 1711.77 1/1 99 53 0 53 1.0 intronic rs2542529 ZNF638 AU NM_014497 exon11 c.47186-7699C>T 0.925319 0.9891 0.9056 0.9737 Uncertain 2_71620818_C->T 2 71620818 71620818 C T snp 1845.77 1/1 99 64 0 64 1.0 intronic rs6741436 ZNF638 AU NM_014497 exon11 c.47186-2452C>T 0.925719 0.9891 0.9058 0.9836 Uncertain 2_71635931_G->T 2 71635931 71635931 G T snp 1618.77 1/1 99 55 0 55 1.0 intronic rs12466025 ZNF638 AU NM_014497 exon20 c.59293+554G>T 0.925519 0.9891 0.9081 0.9831 Uncertain 2_71649966_A->G 2 71649966 71649966 A G snp 1476.77 0/1 99 115 57 58 0.5 exonic rs61739715 ZNF638 AU nonsynonymous SNV NM_014497 exon22 c.A3322G p.I1108V 0.00898562 0.0387 0.000384 0.0068 0.0589 0.58 T 1 D -1.025 T 0.0 T 0.0 T Pathogenic 2_71651939_T->A 2 71651939 71651939 T A snp 1700.77 1/1 99 58 0 58 1.0 intronic rs12613800 ZNF638 AU NM_014497 exon23 c.75761+94T>A 0.58766 0.7063 Uncertain 2_71654175_G->A 2 71654175 71654175 G A snp 7031.77 1/1 99 248 0 248 1.0 exonic rs1804020 ZNF638 AU nonsynonymous SNV NM_014497 exon24 c.G5176A p.V1726M 0.343251 0.7034 0.242350 0.2823 0.6916 0.45 T 1.000 P -0.972 T 0.0 T 0.0 T Pathogenic 2_71680950_C->A 2 71680950 71680950 C A snp 220.84 1/1 18 6 0 6 1.0 UTR5 rs6741336 DYSF AR 0.204872 0.4405 Uncertain 2_71693943_G->A 2 71693943 71693943 G A snp 293.77 0/1 99 24 12 12 0.5 intronic rs61333801 DYSF AR NM_001130981 exon1 c.88+12727G>A 0.205471 0.4315 0.2010 0.4957 Uncertain 2_71708810_T->G 2 71708810 71708810 T G snp 209.84 1/1 18 6 0 6 1.0 intronic rs34707417 DYSF AR NM_001130981 exon3 c.27880-198T>G 0.391174 0.5972 Uncertain 2_71708852_-->CATCCATCCATCCATCCATT 2 71708852 71708852 - CATCCATCCATCCATCCATT indel 3641.73 1/1 69 23 0 23 1.0 intronic rs56102566 DYSF AR NM_001130981 exon3 c.27880-156insCATCCATCCATCCATCCATT 0.338059 0.5496 Uncertain 2_71781111_A->G 2 71781111 71781111 A G snp 1293.77 0/1 99 105 55 50 0.48 intronic rs733654 DYSF AR NM_001130981 exon21 c.99933+50A>G 0.0183706 0.0417 0.000923 0.0134 0.0569 Uncertain 2_71797712_G->A 2 71797712 71797712 G A snp 1690.77 1/1 99 57 0 57 1.0 intronic rs3764971 DYSF AR NM_001130981 exon29 c.116600-16G>A 0.260583 0.4385 0.171666 0.2659 0.4596 CLINSIG=non-pathogenic,unknown;CLNDBN=not_specified,not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter,criteria_provided\x2c_single_submitter;CLNACC=RCV000080262.3,RCV000080263.3;CLNDSDB=MedGen,MedGen;CLNDSDBID=CN169374,CN221809 Uncertain 2_71801284_C->G 2 71801284 71801284 C G snp 655.77 0/1 99 50 27 23 0.46 intronic DYSF AR NM_001130981 exon30 c.120199-43C>G Uncertain 2_71816602_G->C 2 71816602 71816602 G C snp 54.74 1/1 6 2 0 2 1.0 intronic rs3811611 DYSF AR NM_001130981 exon31 c.135594-120G>C 0.604633 0.7192 Uncertain 2_71817003_A->G 2 71817003 71817003 A G snp 307.78 1/1 24 8 0 8 1.0 intronic rs1473228 DYSF AR NM_001130981 exon31 c.135688+187A>G 0.73123 0.8145 Uncertain 2_71817571_A->T 2 71817571 71817571 A T snp 1373.77 1/1 99 39 0 39 1.0 intronic rs720541 DYSF AR NM_001130981 exon32 c.136290+153A>T 0.239816 0.3532 Uncertain 2_71828423_A->T 2 71828423 71828423 A T snp 411.77 0/1 99 26 10 16 0.62 intronic rs2303604 DYSF AR NM_001130981 exon35 c.147500-205A>T 0.910343 0.8413 Uncertain 2_71829821_G->T 2 71829821 71829821 G T snp 796.77 0/1 99 59 24 35 0.59 intronic rs1529408 DYSF AR NM_001130981 exon36 c.148777-84G>T 0.911142 0.8413 0.963863 Uncertain 2_71847943_C->A 2 71847943 71847943 C A snp 114.77 0/1 99 7 3 4 0.57 intronic rs12995778 DYSF AR NM_001130981 exon41 c.166611+204C>A 0.682907 0.869 Uncertain 2_71871039_A->G 2 71871039 71871039 A G snp 1509.77 1/1 99 54 0 54 1.0 intronic rs84181 DYSF AR NM_001130981 exon42 c.189966-55A>G 0.824681 0.8085 Uncertain 2_71871236_A->G 2 71871236 71871236 A G snp 430.77 1/1 33 15 1 14 0.93 intronic rs84182 DYSF AR NM_001130981 exon42 c.190065+43A>G 0.838259 0.8085 0.889666 0.8594 0.8222 Uncertain 2_71891236_C->T 2 71891236 71891236 C T snp 178.9 1/1 15 5 0 5 1.0 intronic rs2303598 DYSF AR NM_001130981 exon46 c.210269-161C>T 0.609824 0.6587 Uncertain 2_71891361_C->T 2 71891361 71891361 C T snp 1851.77 1/1 99 63 0 63 1.0 intronic rs2303599 DYSF AR NM_001130981 exon46 c.210269-36C>T 0.744808 0.6935 0.811625 0.8202 0.7049 Uncertain 2_71901286_C->T 2 71901286 71901286 C T snp 1368.77 1/1 99 41 0 41 1.0 intronic rs2559081 DYSF AR NM_001130981 exon52 c.220198-40C>T 0.728035 0.7024 0.780025 0.8068 0.7115 Uncertain 2_71906171_T->C 2 71906171 71906171 T C snp 1321.77 1/1 96 41 0 41 1.0 intronic rs1863812 DYSF AR NM_001130981 exon53 c.225058-15T>C 0.878195 0.7609 0.923036 0.8851 0.7791 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000080313.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 2_71907930_G->T 2 71907930 71907930 G T snp 56.74 1/1 6 2 0 2 1.0 intronic rs7558412 DYSF AR NM_001130981 exon54 c.227002-200G>T 0.825479 0.7331 Uncertain 2_71908050_A->T 2 71908050 71908050 A T snp 936.77 0/1 99 74 36 38 0.51 intronic rs753371067 DYSF AR NM_001130981 exon54 c.227002-80A>T Uncertain 2_71909511_G->A 2 71909511 71909511 G A snp 923.77 0/1 99 51 23 28 0.55 intronic rs531399376 DYSF AR NM_001130981 exon55 c.228531-148G>A 0.000199681 0.001 Uncertain 2_72692272_-->AG 2 72692272 72692272 - AG indel 4270.73 1/1 99 85 0 85 1.0 intronic rs397829667 EXOC6B AU NM_015189 exon5 c.285825-16insAG 0.997604 1 0.996521 0.9973 1 Uncertain 2_72742084_ACAC->- 2 72742084 72742087 ACAC - indel 2289.73 ./1 99 66 1 65 0.98 intronic EXOC6B AU NM_015189 exon14 c.335708-87_335708-84delACAC Uncertain 2_72742084_AC->- 2 72742084 72742085 AC - indel 2289.73 ./1 99 66 1 65 0.98 intronic rs397984991 EXOC6B AU NM_015189 exon14 c.335708-87_335708-86delAC Uncertain 2_73151231_C->T 2 73151231 73151231 C T snp 1744.77 1/1 99 61 0 61 1.0 intronic rs1561247 EMX1 AU NM_004097 exon2 c.6456-206C>T 0.988219 1 0.9780 1 Uncertain 2_73195838_TTCC->- 2 73195838 73195841 TTCC - indel 631.73 1/1 33 17 0 17 1.0 intronic rs10565763 SFXN5 AU NM_144579 exon3 c.23512+176_23512+179delTTCC 0.657548 0.7629 Uncertain 2_73285752_T->A 2 73285752 73285752 T A snp 1749.77 1/1 99 65 0 65 1.0 intronic rs10180720 SFXN5 AU NM_144579 exon13 c.113575+27T>A 0.391573 0.5565 0.315470 0.2802 0.5388 Uncertain 2_73302891_-->GCCT 2 73302891 73302891 - GCCT indel 597.73 1/1 33 24 0 24 1.0 intronic rs3832033 RAB11FIP5 AU NM_015470 exon1 c.204+39insGCCT 0.384784 0.5357 0.2015 0.4158 Uncertain 2_73316540_A->T 2 73316540 73316540 A T snp 5411.77 1/1 99 199 0 199 1.0 intronic rs3901273 RAB11FIP5 AU NM_015470 exon4 c.13795+97A>T 0.39357 0.5575 0.2907 0.5500 Uncertain 2_73339430_T->G 2 73339430 73339430 T G snp 4060.77 1/1 99 159 0 159 1.0 intronic rs4143146 RAB11FIP5 AU NM_015470 exon5 c.36826-44T>G 0.88139 0.8333 0.886778 0.8671 0.8540 Uncertain 2_73429808_G->C 2 73429808 73429808 G C snp 458.77 0/1 99 34 14 20 0.59 exonic rs1864492 NOTO AU nonsynonymous SNV NM_001134462 exon1 c.G14C p.R5T 0.220847 0.373 0.2763 0.3875 0.66 T 0.0 P -1.041 T 0.005 T 0.009 T Pathogenic 2_73430234_T->C 2 73430234 73430234 T C snp 463.77 0/1 99 23 8 15 0.65 intronic rs13432787 NOTO AU NM_001134462 exon1 c.382+58T>C 0.521565 0.3909 Uncertain 2_73435786_C->A 2 73435786 73435786 C A snp 182.77 0/1 99 16 8 8 0.5 intronic rs57038990 NOTO AU NM_001134462 exon2 c.5948+44C>A 0.313299 0.374 0.289969 0.2590 0.3314 Uncertain 2_73441597_G->A 2 73441597 73441597 G A snp 265.77 0/1 99 27 17 10 0.37 intronic rs2276545 SMYD5 AU NM_006062 exon1 c.96+107G>A 0.255591 0.374 Uncertain 2_73447736_G->A 2 73447736 73447736 G A snp 450.77 0/1 99 49 28 21 0.43 intronic rs2303905 SMYD5 AU NM_006062 exon4 c.6394-52G>A 0.25619 0.377 Uncertain 2_73447775_A->G 2 73447775 73447775 A G snp 601.77 0/1 99 53 28 25 0.47 intronic rs2303904 SMYD5 AU NM_006062 exon4 c.6394-13A>G 0.42492 0.3919 0.441181 0.3914 0.3542 Uncertain 2_73450139_A->T 2 73450139 73450139 A T snp 1258.77 0/1 99 111 55 56 0.5 intronic rs17008885 SMYD5 AU NM_006062 exon8 c.8769-24A>T 0.254992 0.377 0.260803 0.2848 0.3373 Uncertain 2_73455747_C->T 2 73455747 73455747 C T snp 2483.77 0/1 99 220 110 110 0.5 intronic rs2288631 PRADC1 AU NM_032319 exon1 c.121+45C>T 0.246805 0.3681 0.248885 0.2714 0.3339 Uncertain 2_73460294_GGGCC->- 2 73460294 73460298 GGGCC - indel 1283.73 0/1 99 40 18 22 0.55 UTR5 rs70965722 PRADC1 AU 0.517173 0.3829 0.506342 0.3705 0.2759 Uncertain 2_73461483_C->A 2 73461483 73461483 C A snp 1646.77 0/1 99 155 81 74 0.48 UTR5 rs1053329 CCT7 AU 0.244409 0.3681 0.2766 0.3355 Uncertain 2_73467677_AA->- 2 73467677 73467678 AA - indel 2451.73 0/1 99 127 66 61 0.48 splicing rs3835072 CCT7 AU NM_006429 exon3 c.6165+6_6165+7delAA 0.340455 0.38 0.358576 0.3508 0.3517 Pathogenic 2_73471653_T->G 2 73471653 73471653 T G snp 1700.77 0/1 99 151 77 74 0.49 intronic rs1018342 CCT7 AU NM_006429 exon6 c.10165-18T>G 0.254393 0.3671 0.255376 0.2934 0.3386 Uncertain 2_73472012_G->A 2 73472012 73472012 G A snp 37.77 0/1 66 6 4 2 0.33 intronic rs12465780 CCT7 AU NM_006429 exon6 c.10337+169G>A 0.527356 0.38 Uncertain 2_73477351_T->C 2 73477351 73477351 T C snp 830.77 0/1 99 69 34 35 0.51 intronic rs909065 CCT7 AU NM_006429 exon10 c.15927-82T>C 0.255591 0.3681 Uncertain 2_73478461_A->T 2 73478461 73478461 A T snp 820.77 0/1 99 81 41 40 0.49 exonic rs7851 CCT7 AU synonymous SNV NM_006429 exon11 c.A1311T p.A437A 0.254193 0.3611 0.257249 0.2789 0.3227 Uncertain 2_73490125_A->G 2 73490125 73490125 A G snp 108.77 0/1 99 8 4 4 0.5 intronic rs7591768 FBXO41 AU NM_001080410 exon5 c.4231-215A>G 0.298922 0.369 Uncertain 2_73490412_A->G 2 73490412 73490412 A G snp 1006.77 0/1 99 68 25 43 0.63 exonic rs34363861 FBXO41 AU synonymous SNV NM_001080410 exon8 c.T2100C p.H700H 0.52496 0.3849 0.576936 0.5293 0.4229 Uncertain 2_73491683_G->A 2 73491683 73491683 G A snp 139.77 0/1 99 15 9 6 0.4 intronic rs4852916 FBXO41 AU NM_001080410 exon8 c.5538+36G>A 0.263578 0.4038 0.226957 0.3012 0.4203 Uncertain 2_73492614_A->T 2 73492614 73492614 A T snp 1260.77 0/1 99 135 75 60 0.44 exonic rs526106 FBXO41 AU nonsynonymous SNV NM_001080410 exon4 c.T1360A p.S454T 0.330272 0.4752 0.263362 0.3283 0.5134 0.85 T 0.002 P -0.939 T Pathogenic 2_73518533_G->A 2 73518533 73518533 G A snp 708.77 0/1 99 60 27 33 0.55 UTR3 rs2229294 EGR4 AU 0.276358 0.3998 0.156490 Uncertain 2_73518867_G->A 2 73518867 73518867 G A snp 2428.77 0/1 99 178 83 95 0.53 exonic rs7558708 EGR4 AU synonymous SNV NM_001965 exon2 c.C1488T p.R496R 0.284545 0.3998 0.174689 0.1647 0.4559 Uncertain 2_73613031_-->GGA 2 73613031 73613031 - GGA indel 959.73 ./1 99 20 1 19 0.95 exonic rs193922695 ALMS1 AR nonframeshift insertion NM_015120 exon1 c.35_36insGGA p.L12delinsLE 0.0370 0.1574 CLINSIG=unknown;CLNDBN=Cardiomyopathy;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000029331.1;CLNDSDB=MedGen:SNOMED_CT;CLNDSDBID=C0878544:85898001 Uncertain 2_73613032_GGAGGA->- 2 73613032 73613037 GGAGGA - indel 959.73 ./1 99 20 1 19 0.95 exonic rs3074417 ALMS1 AR nonframeshift deletion NM_015120 exon1 c.36_41del p.12_14del 0.765974 0.7024 0.4179 0.3611 ID=COSM111368;OCCURENCE=1(ovary),1(haematopoietic_and_lymphoid_tissue) Uncertain 2_73613341_G->A 2 73613341 73613341 G A snp 563.77 0/1 99 48 23 25 0.52 intronic rs11126399 ALMS1 AR NM_015120 exon1 c.324+21G>A 0.251198 0.2113 0.226995 0.3335 0.2835 Uncertain 2_73650122_T->A 2 73650122 73650122 T A snp 1921.77 0/1 99 182 102 80 0.44 intronic rs1881246 ALMS1 AR NM_015120 exon4 c.37106+20T>A 0.532748 0.7877 0.502775 0.6033 0.7756 Uncertain 2_73675020_T->- 2 73675020 73675020 T - indel 146.73 0/1 75 9 3 6 0.67 intronic rs66492706 ALMS1 AR NM_015120 exon8 c.62093-69delT 0.600439 0.7857 Uncertain 2_73675227_-->CTC 2 73675227 73675227 - CTC indel 5484.73 0/1 99 176 71 105 0.6 exonic rs34628045 ALMS1 AR nonframeshift insertion NM_015120 exon8 c.1570_1571insCTC p.S524delinsSP 0.600439 0.7847 0.551065 0.6384 0.7761 Uncertain 2_73675669_T->G 2 73675669 73675669 T G snp 2049.77 0/1 99 136 55 81 0.6 exonic rs2037814 ALMS1 AR nonsynonymous SNV NM_015120 exon8 c.T2012G p.V671G 0.872204 0.7917 0.880566 0.8627 0.7828 0.24 T 0.0 P -1.070 T 0.0 T 0.0 T Pathogenic 2_73675844_C->T 2 73675844 73675844 C T snp 2469.77 0/1 99 215 119 96 0.45 exonic rs7598901 ALMS1 AR synonymous SNV NM_015120 exon8 c.C2187T p.F729F 0.526358 0.7798 0.494807 0.5991 0.7744 Uncertain 2_73716810_G->A 2 73716810 73716810 G A snp 2094.77 0/1 99 165 74 91 0.55 exonic rs3820700 ALMS1 AR nonsynonymous SNV NM_015120 exon10 c.G7721A p.S2574N 0.126797 0.2014 0.120129 0.1376 0.2164 0.14 T 1.0 P -0.966 T 0.996 D 0.801 D Pathogenic 2_73717103_G->C 2 73717103 73717103 G C snp 2973.77 0/1 99 250 128 122 0.49 exonic rs2017116 ALMS1 AR nonsynonymous SNV NM_015120 exon10 c.G8014C p.D2672H 0.135982 0.2034 0.128935 0.1410 0.2184 1 T 0.0 P -0.928 T 0.0 T 0.0 T Pathogenic 2_73828310_T->C 2 73828310 73828310 T C snp 1252.77 0/1 99 74 29 45 0.61 intronic rs1320374 ALMS1 AR NM_015120 exon19 c.215325-11T>C 0.552915 0.7599 0.515006 0.6244 0.7528 Uncertain 2_73828538_G->A 2 73828538 73828538 G A snp 2557.77 0/1 99 226 121 105 0.46 exonic rs1052161 ALMS1 AR nonsynonymous SNV NM_015120 exon19 c.G12086A p.R4029K 0.582268 0.7599 0.536610 0.6334 0.7539 1 T 0.000 P -0.967 T 0.001 T 0.002 T Pathogenic 2_73898118_C->T 2 73898118 73898118 C T snp 1110.77 0/1 99 78 38 40 0.51 ncRNA_intronic rs7570683 ALMS1P AU 0.546126 0.6925 Uncertain 2_73898359_G->A 2 73898359 73898359 G A snp 732.77 0/1 99 46 23 23 0.5 ncRNA_intronic rs4341964 ALMS1P AU 0.552117 0.6925 Uncertain 2_73898420_A->G 2 73898420 73898420 A G snp 42.77 0/1 31 3 1 2 0.67 ncRNA_intronic rs2421582 ALMS1P AU 0.572883 0.7946 Uncertain 2_73899613_T->G 2 73899613 73899613 T G snp 331.77 0/1 99 33 17 16 0.48 ncRNA_exonic rs2421585 ALMS1P AU 0.840256 0.7996 Uncertain 2_73899719_C->T 2 73899719 73899719 C T snp 56.74 1/1 6 2 0 2 1.0 ncRNA_intronic rs2421586 ALMS1P AU 0.550519 0.6915 Uncertain 2_73899955_G->T 2 73899955 73899955 G T snp 2334.77 0/1 99 192 89 103 0.54 ncRNA_exonic rs6725284 ALMS1P AU 0.847644 0.6974 0.879763 0.8538 0.6734 Uncertain 2_73900210_A->G 2 73900210 73900210 A G snp 322.77 0/1 99 37 25 12 0.32 ncRNA_intronic rs4637150 ALMS1P AU 0.848043 0.8026 0.859396 0.8444 0.8427 Uncertain 2_73912020_C->A 2 73912020 73912020 C A snp 471.77 0/1 99 48 28 20 0.42 ncRNA_intronic rs183098553 ALMS1P AU 0.00199681 0.0099 Uncertain 2_73927931_A->G 2 73927931 73927931 A G snp 2364.77 0/1 99 199 106 93 0.47 exonic rs4852974 NAT8B AU unknown 0.766573 0.7103 0.749270 0.7274 0.6915 Uncertain 2_73928098_C->G 2 73928098 73928098 C G snp 3549.77 0/1 99 250 124 126 0.5 exonic rs2001490 NAT8B AU unknown 0.577276 0.6448 0.561126 0.6147 0.6452 Uncertain 2_73928366_G->C 2 73928366 73928366 G C snp 2755.77 0/1 99 250 132 118 0.47 exonic rs2012574 NAT8B AU unknown 0.545128 0.6448 0.531438 0.6072 0.6430 Uncertain 2_73957124_A->G 2 73957124 73957124 A G snp 780.77 0/1 99 69 36 33 0.48 exonic rs7210 TPRKB AU synonymous SNV NM_016058 exon5 c.T474C p.I158I 0.570687 0.6954 0.566383 0.6452 0.7080 Uncertain 2_73957227_T->A 2 73957227 73957227 T A snp 297.77 0/1 99 20 9 11 0.55 intronic rs13003035 TPRKB AU NM_016058 exon1 c.87+71T>A 0.521565 0.6954 Uncertain 2_73994074_G->A 2 73994074 73994074 G A snp 2395.77 1/1 99 81 0 81 1.0 intronic rs2567599 DUSP11 AU NM_003584 exon3 c.4243+44G>A 0.951677 0.9931 0.931640 0.9470 0.9959 Uncertain 2_74005569_TT->- 2 74005569 74005570 TT - indel 1787.73 0/1 99 82 37 45 0.55 intronic DUSP11 AU NM_003584 exon8 c.15716+66_15716+67delTT Uncertain 2_74007136_T->C 2 74007136 74007136 T C snp 2591.77 0/1 99 248 141 107 0.43 exonic rs2272051 DUSP11 AU nonsynonymous SNV NM_003584 exon1 c.A107G p.D36G 0.609625 0.7014 0.600723 0.6449 0.7168 0.59 T 0.000 P -0.972 T 0.0 T 0.0 T Pathogenic 2_74007345_A->G 2 74007345 74007345 A G snp 973.77 0/1 99 95 55 40 0.42 upstream rs3813228 DUSP11 AU 0.622005 0.7014 Uncertain 2_74087290_T->C 2 74087290 74087290 T C snp 2148.77 0/1 99 221 123 98 0.44 intronic rs1025424 STAMBP AR NM_006463 exon10 c.29295+12T>C 0.158546 0.005 0.229125 0.1776 0.0051 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000147670.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 2_74087298_A->G 2 74087298 74087298 A G snp 2591.77 0/1 99 211 95 116 0.55 intronic rs2303987 STAMBP AR NM_006463 exon10 c.29295+20A>G 0.159545 0.2748 0.083269 0.0884 0.3059 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000147671.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 2_74128361_T->G 2 74128361 74128361 T G snp 2093.77 1/1 99 70 0 70 1.0 intronic rs1653258 ACTG2 AD 0.467053 0.5248 Uncertain 2_74128369_G->A 2 74128369 74128369 G A snp 2321.77 1/1 99 79 0 79 1.0 intronic rs1632564 ACTG2 AD 0.46845 0.5198 Uncertain 2_74128391_G->C 2 74128391 74128391 G C snp 2952.77 1/1 99 101 1 100 0.99 intronic rs1721241 ACTG2 AD 0.700479 0.5952 0.763955 0.7669 0.5581 Uncertain 2_74128433_C->T 2 74128433 74128433 C T snp 3802.77 1/1 99 137 2 135 0.99 UTR5 rs1050146 ACTG2 AD 0.707867 0.5923 0.762802 0.7697 0.5583 Uncertain 2_74129474_T->C 2 74129474 74129474 T C snp 334.78 1/1 27 11 0 11 1.0 intronic rs1726025 ACTG2 AD NM_001615 exon3 c.1048-12T>C 0.562899 0.5188 0.556820 0.5897 0.4846 Uncertain 2_74129664_A->G 2 74129664 74129664 A G snp 7344.77 1/1 99 249 0 249 1.0 intronic rs1653256 ACTG2 AD NM_001615 exon3 c.1177+49A>G 0.5625 0.5188 0.556974 0.5896 0.4871 Uncertain 2_74129712_C->G 2 74129712 74129712 C G snp 7684.77 1/1 99 249 0 249 1.0 intronic rs1721243 ACTG2 AD NM_001615 exon3 c.1177+97C>G 0.54353 0.5258 0.5942 0.5244 Uncertain 2_74129895_G->A 2 74129895 74129895 G A snp 4275.77 1/1 99 142 0 142 1.0 intronic rs1721244 ACTG2 AD NM_001615 exon3 c.1177+280G>A 0.541933 0.5188 0.5379 0.4825 Uncertain 2_74135380_G->A 2 74135380 74135380 G A snp 1569.77 1/1 99 58 0 58 1.0 intronic rs756127 ACTG2 AD NM_001199893 exon3 c.7361-419G>A 0.494409 0.5238 0.4860 0.4794 Uncertain 2_74135732_G->A 2 74135732 74135732 G A snp 54.74 1/1 6 2 0 2 1.0 intronic rs702460 ACTG2 AD NM_001199893 exon3 c.7361-67G>A 0.571885 0.5258 Uncertain 2_74135797_T->C 2 74135797 74135797 T C snp 984.77 1/1 72 28 0 28 1.0 splicing rs702461 ACTG2 AD NM_001199893 exon3 c.7361-2T>C 0.575879 0.5268 0.594726 0.6476 0.4899 Pathogenic 2_74135856_C->T 2 74135856 74135856 C T snp 739.77 0/1 99 66 33 33 0.5 exonic rs369931831 ACTG2 AD synonymous SNV NM_001615 exon4 c.C312T p.T104T 8.261e-06 0.0001 Uncertain 2_74135898_A->G 2 74135898 74135898 A G snp 2394.77 1/1 99 87 0 87 1.0 exonic rs756128 ACTG2 AD synonymous SNV NM_001615 exon4 c.A354G p.E118E 0.571885 0.5258 0.589958 0.6403 0.4937 Uncertain 2_74140581_A->T 2 74140581 74140581 A T snp 1991.77 1/1 99 63 0 63 1.0 intronic rs891699 ACTG2 AD NM_001199893 exon5 c.12173-30A>T 0.599441 0.5288 0.619714 0.6524 0.4907 Uncertain 2_74140789_T->C 2 74140789 74140789 T C snp 5675.77 1/1 99 206 0 206 1.0 intronic rs891698 ACTG2 AD NM_001199893 exon5 c.12335+16T>C 0.60004 0.5288 0.619637 0.6494 0.4906 Uncertain 2_74140888_A->C 2 74140888 74140888 A C snp 2385.77 1/1 99 77 0 77 1.0 intronic rs891697 ACTG2 AD NM_001199893 exon5 c.12335+115A>C 0.501997 0.5308 Uncertain 2_74143570_A->C 2 74143570 74143570 A C snp 38.77 0/1 67 5 3 2 0.4 intronic rs1653253 ACTG2 AD NM_001199893 exon7 c.15272-140A>C 0.476038 0.5248 Uncertain 2_74153905_C->T 2 74153905 74153905 C T snp 1306.77 1/1 99 38 0 38 1.0 upstream rs831526 DGUOK AR 0.995208 1 Uncertain 2_74184573_G->A 2 74184573 74184573 G A snp 40.77 0/1 69 5 3 2 0.4 intronic rs2002711 DGUOK AR NM_080916 exon5 c.30330+206G>A 0.414337 0.5149 Uncertain 2_74185876_A->T 2 74185876 74185876 A T snp 2851.77 0/1 99 246 120 126 0.51 ncRNA_intronic rs4777 DGUOK-AS1 AU 0.530751 0.5258 0.565354 0.5858 0.5268 Uncertain 2_74273383_-->C 2 74273383 74273383 - C indel 1891.73 0/1 99 110 45 65 0.59 intronic rs11426743 TET3 AU NM_001287491 exon3 c.59874-21insC 0.271366 0.1121 0.2816 0.1180 Uncertain 2_74300717_T->C 2 74300717 74300717 T C snp 1043.77 0/1 99 110 60 50 0.45 exonic rs7560668 TET3 AU synonymous SNV NM_001287491 exon4 c.T2536C p.L846L 0.359625 0.1111 0.415040 0.3177 0.1248 Uncertain 2_74320262_C->G 2 74320262 74320262 C G snp 618.77 0/1 99 36 14 22 0.61 intronic rs12713810 TET3 AU NM_001287491 exon8 c.106588+144C>G 0.296725 0.1111 Uncertain 2_74327453_C->T 2 74327453 74327453 C T snp 414.77 0/1 99 30 13 17 0.57 intronic rs6738709 TET3 AU NM_001287491 exon11 c.113989-66C>T 0.14397 0.128 Uncertain 2_74362090_A->G 2 74362090 74362090 A G snp 135.77 0/1 99 12 7 5 0.42 downstream rs828879 BOLA3 AR 0.963259 0.9256 Uncertain 2_74374884_G->A 2 74374884 74374884 G A snp 232.84 1/1 18 9 0 9 1.0 intronic rs1667605 BOLA3 AR NM_001035505 exon3 c.12299-63G>A 0.391374 0.25 Uncertain 2_74383911_G->A 2 74383911 74383911 G A snp 424.77 1/1 33 13 0 13 1.0 intronic rs828852 MOB1A AU NM_018221 exon1 c.78+139G>A 0.622604 0.6071 Uncertain 2_74448655_T->C 2 74448655 74448655 T C snp 1199.77 0/1 99 126 71 55 0.44 intronic rs7587117 SLC4A5 AU NM_021196 exon1 c.35+27T>C 0.186502 0.131 0.268799 0.2741 0.1188 Uncertain 2_74450125_T->C 2 74450125 74450125 T C snp 285.77 0/1 99 21 10 11 0.52 intronic rs6745054 SLC4A5 AU NM_021196 exon2 c.1486+46T>C 0.400759 0.4881 0.274915 0.2699 0.5296 Uncertain 2_74453986_A->G 2 74453986 74453986 A G snp 951.77 0/1 99 53 19 34 0.64 intronic rs7565640 SLC4A5 AU NM_021196 exon4 c.5490-97A>G 0.147963 0.0982 Uncertain 2_74454291_A->G 2 74454291 74454291 A G snp 211.77 0/1 99 41 31 10 0.24 intronic rs113170181 SLC4A5 AU NM_021196 exon4 c.5664+34A>G 0.148363 0.1012 0.101447 0.0749 0.1035 Uncertain 2_74455122_G->A 2 74455122 74455122 G A snp 31.77 0/1 60 8 6 2 0.25 intronic rs75114876 SLC4A5 AU NM_021196 exon6 c.6412+117G>A 0.0920527 0.1012 Uncertain 2_74460685_C->T 2 74460685 74460685 C T snp 623.77 0/1 99 48 26 22 0.46 exonic rs3796109 SLC4A5 AU synonymous SNV NM_021196 exon18 c.G2439A p.T813T 0.108427 0.1071 0.065585 0.0713 0.1011 Uncertain 2_74466594_G->A 2 74466594 74466594 G A snp 970.77 0/1 99 93 50 43 0.46 exonic rs4853018 SLC4A5 AU synonymous SNV NM_021196 exon16 c.C2187T p.G729G 0.226637 0.1954 0.345687 0.3413 0.1833 Uncertain 2_74477427_G->A 2 74477427 74477427 G A snp 196.77 0/1 99 18 8 10 0.56 intronic rs75131120 SLC4A5 AU NM_021196 exon15 c.28876-42G>A 0.107029 0.1071 0.060972 0.0634 0.0849 Uncertain 2_74512800_G->A 2 74512800 74512800 G A snp 495.77 1/1 39 14 0 14 1.0 intronic rs3771730 SLC4A5 AU NM_021196 exon24 c.64306-99G>A 0.15595 0.4087 Uncertain 2_74531583_G->A 2 74531583 74531583 G A snp 242.77 0/1 99 13 5 8 0.62 intronic rs3771737 SLC4A5 AU NM_021196 exon25 c.83022-32G>A 0.207468 0.3829 0.123789 0.0924 0.3550 Uncertain 2_74589288_G->C 2 74589288 74589288 G C snp 987.77 0/1 99 74 32 42 0.57 intronic rs2268427 DCTN1 AR,AD NM_001190836 exon2 c.643+20G>C 0.175719 0.3929 0.084115 0.0800 0.3650 Uncertain 2_74589897_G->T 2 74589897 74589897 G T snp 1065.77 0/1 99 76 35 41 0.54 intronic rs2268426 DCTN1 AR,AD NM_001190836 exon3 c.1231+41G>T 0.174521 0.3899 0.083807 0.0810 0.3661 Uncertain 2_74595014_G->A 2 74595014 74595014 G A snp 1976.77 0/1 99 173 87 86 0.5 intronic rs909177 DCTN1 AR,AD NM_001190836 exon14 c.6366+23G>A 0.199681 0.4256 0.115408 0.1446 0.4790 Uncertain 2_74596168_-->A 2 74596168 74596168 - A indel 311.73 0/1 52 11 2 9 0.82 intronic rs3216580 DCTN1 AR,AD NM_001190836 exon17 c.7599-56insA 0.303514 0.4256 Uncertain 2_74597527_G->A 2 74597527 74597527 G A snp 906.77 0/1 99 91 49 42 0.46 intronic rs740277 DCTN1 AR,AD NM_001190836 exon20 c.8847+55G>A 0.198283 0.4216 Uncertain 2_74604673_C->T 2 74604673 74604673 C T snp 1475.77 0/1 99 98 44 54 0.55 intronic rs3213672 DCTN1 AR,AD NM_001190836 exon25 c.15968+80C>T 0.293331 0.4266 0.183968 Uncertain 2_74604895_T->C 2 74604895 74604895 T C snp 966.77 0/1 99 82 40 42 0.51 intronic rs3815241 DCTN1 AR,AD NM_001190836 exon26 c.16228+42T>C 0.19369 0.4276 0.095597 0.1285 0.4824 Uncertain 2_74641624_G->C 2 74641624 74641624 G C snp 5821.77 1/1 99 206 0 206 1.0 exonic rs2240444 C2orf81 AU synonymous SNV NM_001145054 exon4 c.C1599G p.P533P 0.545128 0.8244 0.334209 0.2956 0.8424 Uncertain 2_74649917_C->- 2 74649917 74649917 C - indel 305.73 1/1 36 13 0 13 1.0 intronic rs200949812 WDR54 AU NM_032118 exon3 c.716-79delC Uncertain 2_74682512_C->T 2 74682512 74682512 C T snp 3324.77 1/1 99 117 0 117 1.0 ncRNA_intronic rs2268417 INO80B-WBP1 AU 0.538538 0.8214 0.353837 0.2809 0.8369 Uncertain 2_74686329_C->T 2 74686329 74686329 C T snp 256.8 1/1 21 7 0 7 1.0 ncRNA_intronic rs2270016 INO80B-WBP1 AU 0.548323 0.8214 Uncertain 2_74687258_-->CACATTT 2 74687258 74687258 - CACATTT indel 20568.7 1/1 99 241 0 241 1.0 ncRNA_intronic rs113321228 INO80B-WBP1 AU 0.424521 0.8214 Uncertain 2_74687550_T->C 2 74687550 74687550 T C snp 1391.77 1/1 99 51 0 51 1.0 exonic rs8469 WBP1 AU synonymous SNV NM_012477 exon4 c.T552C p.P184P 0.524161 0.8214 0.323747 0.2712 0.8365 Uncertain 2_74690039_G->A 2 74690039 74690039 G A snp 4329.77 1/1 99 163 0 163 1.0 exonic rs2268416 MOGS AR nonsynonymous SNV NM_006302 exon4 c.C877T p.P293S 0.538738 0.8214 0.333688 0.2792 0.8366 0.95 T 1.000 P -0.985 T 0.0 T 0.0 T CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000081382.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 2_74690378_C->T 2 74690378 74690378 C T snp 2365.77 1/1 99 83 0 83 1.0 exonic rs1063588 MOGS AR nonsynonymous SNV NM_006302 exon3 c.G715A p.D239N 0.51877 0.8214 0.308962 0.2669 0.8373 0.42 T 1.0 P -1.077 T 0.561 P 0.23 P CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000081381.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 2_74699778_C->A 2 74699778 74699778 C A snp 6654.77 1/1 99 235 0 235 1.0 exonic rs1047911 MRPL53 AU nonsynonymous SNV NM_053050 exon1 c.G10T p.A4S 0.516773 0.8214 0.330591 0.2680 0.8357 0.82 T 0.000 P -0.964 T 0.0 T 0.0 T Pathogenic 2_74710491_C->T 2 74710491 74710491 C T snp 4259.77 1/1 99 156 0 156 1.0 exonic rs6707475 TTC31 AU nonsynonymous SNV NM_022492 exon2 c.C83T p.A28V 0.547324 0.8224 0.341899 0.2797 0.8344 1 T 1.000 P -1.001 T 0.0 T 0.0 T Pathogenic 2_74719910_G->T 2 74719910 74719910 G T snp 1450.77 1/1 99 42 0 42 1.0 intronic rs17009980 TTC31 AU NM_022492 exon12 c.9652+36G>T 0.333267 0.8214 0.133030 0.2155 0.8395 Uncertain 2_74720002_C->G 2 74720002 74720002 C G snp 261.8 1/1 21 8 0 8 1.0 intronic rs4853026 TTC31 AU NM_022492 exon13 c.9826-46C>G 0.994609 1 0.985806 0.9848 1 Uncertain 2_74725144_T->C 2 74725144 74725144 T C snp 4382.77 1/1 99 157 0 157 1.0 exonic rs6546908 LBX2 AU synonymous SNV NM_001009812 exon2 c.A495G p.E165E 0.971246 1 0.944393 0.9468 0.9997 Uncertain 2_74725178_G->A 2 74725178 74725178 G A snp 5555.77 1/1 99 199 1 198 0.99 exonic rs17009998 LBX2 AU nonsynonymous SNV NM_001009812 exon2 c.C461T p.S154F 0.333067 0.8204 0.138496 0.2155 0.8382 0.02 T 1.000 P -0.934 T 0.006 T 0.024 T Pathogenic 2_74732415_T->G 2 74732415 74732415 T G snp 1491.77 1/1 99 46 0 46 1.0 intronic rs2240443 PCGF1 AU NM_032673 exon2 c.196-50T>G 0.520367 0.8244 0.326027 0.2829 0.8323 Uncertain 2_74746080_C->T 2 74746080 74746080 C T snp 139.03 1/1 12 4 0 4 1.0 intronic rs6709863 DQX1 AU NM_133637 exon2 c.594-86C>T 0.351438 0.8185 Uncertain 2_74746322_A->C 2 74746322 74746322 A C snp 1355.77 ./1 99 62 0 62 1.0 exonic DQX1 AU synonymous SNV NM_133637 exon11 c.T1842G p.L614L Uncertain 2_74746322_A->T 2 74746322 74746322 A T snp 1355.77 ./1 99 62 0 62 1.0 exonic rs6546909 DQX1 AU synonymous SNV NM_133637 exon11 c.T1842A p.L614L 0.523163 0.8185 0.336845 0.2819 0.8343 Uncertain 2_74746489_G->A 2 74746489 74746489 G A snp 79.77 0/1 99 10 5 5 0.5 intronic DQX1 AU NM_133637 exon2 c.785+132G>A Uncertain 2_74751022_-->T 2 74751022 74751022 - T indel 697.73 0/1 99 99 62 37 0.37 intronic rs143229792 DQX1 AU NM_133637 exon9 c.5477-27insT 0.0714856 0.1498 0.056839 0.1429 0.2723 Uncertain 2_74755778_A->C 2 74755778 74755778 A C snp 500.77 1/1 39 16 0 16 1.0 intronic rs10779958 AUP1 AU NM_181575 exon9 c.1951-99A>C 0.502596 0.8313 Uncertain 2_74756111_-->A 2 74756111 74756111 - A indel 1006.73 1/1 70 62 2 60 0.97 intronic rs3835033 AUP1 AU NM_181575 exon9 c.2136+49insA 0.485423 0.8006 0.280666 0.3108 0.7251 Uncertain 2_74756150_A->G 2 74756150 74756150 A G snp 873.77 0/1 99 78 50 28 0.36 intronic rs74973842 AUP1 AU NM_181575 exon9 c.2136+88A>G 0.00738818 0.0347 0.0027 0.0350 0.01 T 0.998 N -1.028 T Uncertain 2_74756176_G->C 2 74756176 74756176 G C snp 3738.77 1/1 99 118 1 117 0.99 intronic rs2231250 AUP1 AU NM_181575 exon10 c.2332-82G>C 0.5 0.8304 0.2783 0.8434 0.24 T 0.000 P -1.044 T Uncertain 2_74758666_G->A 2 74758666 74758666 G A snp 1731.77 0/1 99 140 64 76 0.54 intronic rs2241027 HTRA2 AU NM_013247 exon5 c.1590-57G>A 0.101837 0.3353 0.0450 0.3245 Uncertain 2_74758934_G->A 2 74758934 74758934 G A snp 463.77 0/1 99 36 19 17 0.47 intronic rs2241028 HTRA2 AU NM_013247 exon6 c.1849-48G>A 0.0682907 0.1478 0.042365 0.0619 0.1712 Uncertain 2_74761422_T->C 2 74761422 74761422 T C snp 6025.77 1/1 99 218 0 218 1.0 intronic rs6707302 LOXL3 AU NM_032603 exon4 c.710-20T>C 0.555112 0.8294 0.366754 0.2905 0.8488 Uncertain 2_74763258_C->G 2 74763258 74763258 C G snp 2290.77 0/1 99 183 93 90 0.49 exonic rs17010022 LOXL3 AU synonymous SNV NM_032603 exon7 c.G1113C p.L371L 0.0952476 0.3472 0.002230 0.0426 0.3284 1.0 P -0.985 T Likely benign 2_74789700_A->T 2 74789700 74789700 A T snp 469.77 1/1 36 14 0 14 1.0 intronic rs11126435 M1AP AU NM_001281296 exon3 c.3708+150A>T 0.547324 0.8155 Uncertain 2_74834301_T->A 2 74834301 74834301 T A snp 1654.77 0/1 99 139 65 74 0.53 exonic rs117569670 M1AP AU nonsynonymous SNV NM_001281295 exon4 c.A476T p.E159V 0.00479233 0.0228 0.0021 0.0281 0.01 T 1 D -0.675 T 1.0 D 0.998 D Pathogenic 2_74900588_G->T 2 74900588 74900588 G T snp 521.77 0/1 99 48 25 23 0.48 exonic rs34617503 SEMA4F AU synonymous SNV NM_001271662 exon5 c.G456T p.G152G 0.0700879 0.0933 0.078425 0.0837 0.1063 Uncertain 2_74900738_G->A 2 74900738 74900738 G A snp 1139.77 0/1 99 104 57 47 0.45 intronic rs2075213 SEMA4F AU NM_004263 exon6 c.19200+35G>A 0.115216 0.3611 0.016377 0.0548 0.3552 Uncertain 2_74901602_C->T 2 74901602 74901602 C T snp 1074.77 1/1 78 34 0 34 1.0 intronic rs363608 SEMA4F AU NM_004263 exon8 c.20121-22C>T 0.408347 0.8115 0.227427 0.2449 0.8336 Uncertain 2_74902872_A->G 2 74902872 74902872 A G snp 4602.77 1/1 99 161 0 161 1.0 splicing rs363609 SEMA4F AU NM_004263 exon12 c.21372-3A>G 0.530751 0.8204 0.347609 0.2763 0.8384 Pathogenic 2_75061873_C->G 2 75061873 75061873 C G snp 3625.77 1/1 99 115 0 115 1.0 intronic rs663504 HK2 AU NM_000189 exon1 c.63+103C>G 0.758586 0.7143 Uncertain 2_75099381_T->C 2 75099381 75099381 T C snp 258.8 1/1 21 7 0 7 1.0 intronic rs3732300 HK2 AU NM_000189 exon4 c.37719-45T>C 0.183307 0.1607 0.195986 0.1860 0.1813 Uncertain 2_75099477_A->T 2 75099477 75099477 A T snp 4779.77 1/1 99 161 2 159 0.99 exonic rs2229621 HK2 AU nonsynonymous SNV NM_000189 exon4 c.A426T p.Q142H 0.179513 0.1587 0.190758 0.1828 0.1798 0.28 T 0.003 P -1.019 T 0.677 T 0.25 P Pathogenic 2_75101454_T->C 2 75101454 75101454 T C snp 7334.77 1/1 99 250 0 250 1.0 exonic rs2229622 HK2 AU synonymous SNV NM_000189 exon7 c.T753C p.D251D 0.315695 0.2817 0.309242 0.2322 0.3150 Uncertain 2_75104570_A->G 2 75104570 75104570 A G snp 2004.77 1/1 99 60 0 60 1.0 intronic rs3771760 HK2 AU NM_000189 exon8 c.42741+122A>G 0.173123 0.1528 Uncertain 2_75104575_G->A 2 75104575 75104575 G A snp 1795.77 1/1 99 52 0 52 1.0 intronic rs3771759 HK2 AU NM_000189 exon8 c.42741+127G>A 0.162939 0.1528 Uncertain 2_75105798_A->G 2 75105798 75105798 A G snp 6052.77 1/1 99 222 1 221 1.0 intronic rs604112 HK2 AU NM_000189 exon9 c.44107-16A>G 0.986422 1 0.994379 0.9850 0.9997 Uncertain 2_75107367_T->G 2 75107367 75107367 T G snp 3408.77 1/1 99 122 1 121 0.99 intronic rs1807090 HK2 AU NM_000189 exon10 c.45684-24T>G 0.123802 0.1558 0.132210 0.1583 0.1738 Uncertain 2_75113572_G->A 2 75113572 75113572 G A snp 3931.77 1/1 99 145 0 145 1.0 intronic rs2306806 HK2 AU NM_000189 exon15 c.51909-44G>A 0.485224 0.4454 0.526142 0.5618 0.4518 Uncertain 2_75113789_C->G 2 75113789 75113789 C G snp 4848.77 1/1 99 190 0 190 1.0 exonic rs2229627 HK2 AU synonymous SNV NM_000189 exon15 c.C2208G p.P736P 0.517572 0.4554 0.549208 0.5721 0.4548 Uncertain 2_75113903_A->G 2 75113903 75113903 A G snp 2344.77 1/1 99 76 0 76 1.0 intronic rs17741356 HK2 AU NM_000189 exon15 c.52093+103A>G 0.169928 0.1687 Uncertain 2_75115108_A->G 2 75115108 75115108 A G snp 1927.77 1/1 99 71 0 71 1.0 exonic rs10194657 HK2 AU synonymous SNV NM_000189 exon16 c.A2298G p.L766L 0.524161 0.4821 0.571582 0.5907 0.4799 Uncertain 2_75115379_C->T 2 75115379 75115379 C T snp 216.84 1/1 18 6 0 6 1.0 intronic rs2279429 HK2 AU NM_000189 exon16 c.53478+194C>T 0.461062 0.4802 Uncertain 2_75116627_C->T 2 75116627 75116627 C T snp 3855.77 1/1 99 141 0 141 1.0 intronic rs4853069 HK2 AU NM_000189 exon17 c.54898+22C>T 0.674321 0.5942 0.659926 0.6462 0.6452 Uncertain 2_75185856_G->T 2 75185856 75185856 G T snp 1728.77 0/1 99 141 75 66 0.47 exonic rs12366 POLE4 AU nonsynonymous SNV NM_019896 exon1 c.G50T p.G17V 0.341653 0.4206 0.325004 0.4146 0.4706 0.09 T 1.000 P -0.919 T 0.468 P 0.301 P Pathogenic 2_75187573_G->A 2 75187573 75187573 G A snp 549.77 0/1 99 43 24 19 0.44 intronic rs3771799 POLE4 AU NM_019896 exon3 c.1467+300G>A 0.784345 0.627 Uncertain 2_75187793_A->T 2 75187793 75187793 A T snp 224.77 0/1 99 13 5 8 0.62 intronic rs3821312 POLE4 AU NM_019896 exon3 c.1467+520A>T 0.741214 0.626 Uncertain 2_75187869_T->C 2 75187869 75187869 T C snp 56.74 1/1 6 2 0 2 1.0 intronic rs3771800 POLE4 AU NM_019896 exon3 c.1467+596T>C 0.400559 0.4246 Uncertain 2_75281054_G->T 2 75281054 75281054 G T snp 50.74 1/1 6 2 0 2 1.0 intronic rs17010698 TACR1 AU NM_001058 exon3 c.4324+172G>T 0.209065 0.3333 Uncertain 2_75425623_G->A 2 75425623 75425623 G A snp 267.8 1/1 21 7 0 7 1.0 intronic rs2024512 TACR1 AU NM_001058 exon5 c.149113-48G>A 0.540935 0.3869 0.573966 0.4748 0.4057 Uncertain 2_75425728_A->G 2 75425728 75425728 A G snp 1692.77 1/1 99 63 0 63 1.0 exonic rs6715729 TACR1 AU synonymous SNV NM_001058 exon1 c.T333C p.F111F 0.565096 0.3869 0.600338 0.4855 0.4067 Uncertain 2_75873733_T->C 2 75873733 75873733 T C snp 445.77 0/1 99 46 29 17 0.37 upstream rs2286238 MRPL19 AU 0.666334 0.6925 Uncertain 2_79253029_T->G 2 79253029 79253029 T G snp 152.77 0/1 99 11 6 5 0.45 intronic rs385742 REG3G AU 0.330272 0.3185 Uncertain 2_79253150_A->G 2 79253150 79253150 A G snp 1141.77 0/1 99 94 49 45 0.48 UTR5 rs369967 REG3G AU 0.330671 0.3194 Uncertain 2_79253375_C->T 2 79253375 79253375 C T snp 1736.77 0/1 99 151 83 68 0.45 intronic rs425846 REG3G AU NM_001008387 exon2 c.76+80C>T 0.329872 0.3175 Uncertain 2_79253818_C->G 2 79253818 79253818 C G snp 141.77 0/1 99 12 6 6 0.5 intronic rs412912 REG3G AU NM_001008387 exon3 c.619-20C>G 0.207468 0.2113 0.201061 0.2194 0.1878 Uncertain 2_79254065_C->T 2 79254065 79254065 C T snp 2140.77 0/1 99 250 158 92 0.37 intronic rs431912 REG3G AU NM_001008387 exon4 c.940-94C>T Uncertain 2_79254101_T->G 2 79254101 79254101 T G snp 2362.77 0/1 99 250 159 91 0.36 intronic rs396461 REG3G AU NM_001008387 exon4 c.940-58T>G 0.461262 0.4494 Uncertain 2_79254261_T->C 2 79254261 79254261 T C snp 6247.77 1/1 99 194 0 194 1.0 exonic rs452267 REG3G AU synonymous SNV NM_001008387 exon4 c.T297C p.Y99Y 0.859625 0.9117 0.819237 0.8454 0.9102 Uncertain 2_79255325_G->C 2 79255325 79255325 G C snp 1405.77 0/1 99 118 55 63 0.53 intronic rs2290079 REG3G AU NM_001008387 exon6 c.2115-9G>C 0.391773 0.4623 0.415501 0.4329 0.4719 Uncertain 2_79255426_G->C 2 79255426 79255426 G C snp 1868.77 1/1 99 63 0 63 1.0 UTR3 rs383969 REG3G AU 0.862819 0.9087 0.826542 0.8473 0.9105 Uncertain 2_79312414_G->A 2 79312414 79312414 G A snp 2966.77 1/1 99 108 0 108 1.0 splicing rs3739144 REG1B AU NM_006507 exon1 c.68+5G>A 0.638578 0.6558 0.674227 0.6822 0.6333 Pathogenic 2_79313815_G->T 2 79313815 79313815 G T snp 952.77 1/1 69 33 0 33 1.0 intronic rs2073445 REG1B AU NM_006507 exon4 c.1596-122G>T 0.666534 0.6974 Uncertain 2_79314094_G->T 2 79314094 79314094 G T snp 628.77 1/1 48 18 0 18 1.0 intronic rs6723688 REG1B AU NM_006507 exon4 c.1715+38G>T 0.666933 0.6974 0.701061 0.6985 0.6768 Uncertain 2_79314876_C->A 2 79314876 79314876 C A snp 99.28 1/1 9 4 0 4 1.0 intronic rs2073444 REG1B AU NM_006507 exon5 c.2443+92C>A 0.655551 0.6964 Uncertain 2_79348130_A->- 2 79348130 79348130 A - indel 407.73 0/1 83 52 10 42 0.81 intronic rs11339710 REG1A AU NM_002909 exon2 c.64+79delA 0.589657 0.5962 Uncertain 2_79348196_G->T 2 79348196 79348196 G T snp 218.77 0/1 99 18 10 8 0.44 intronic rs2070707 REG1A AU NM_002909 exon2 c.64+145G>T 0.216853 0.1558 Uncertain 2_79349372_C->G 2 79349372 79349372 C G snp 245.8 0/1 21 10 2 8 0.8 intronic rs283891 REG1A AU NM_002909 exon4 c.1264+121C>G 0.33147 0.3194 Uncertain 2_79350347_A->G 2 79350347 79350347 A G snp 4557.77 1/1 99 170 1 169 0.99 UTR3 rs12228 REG1A AU 0.986621 1 0.968861 0.9691 1 Uncertain 2_79385630_T->C 2 79385630 79385630 T C snp 33.77 0/1 62 249 227 22 0.09 intronic rs759104417 REG3A AU NM_002580 exon3 c.1238+41T>C 0.0004 0.0003 Uncertain 2_79385758_A->C 2 79385758 79385758 A C snp 443.77 0/1 99 60 43 17 0.28 intronic rs80188986 REG3A AU NM_002580 exon4 c.1425-18A>C 0.2909 0.3242 Uncertain 2_79385913_G->A 2 79385913 79385913 G A snp 572.77 0/1 99 45 21 24 0.53 intronic rs2272110 REG3A AU NM_002580 exon4 c.1544+18G>A 0.0894569 0.0714 0.091727 0.1019 0.0549 Uncertain 2_79422965_C->G 2 79422965 79422965 C G snp 568.77 0/1 99 61 36 25 0.41 intergenic rs1434199 REG3A AU 0.629593 0.4812 0.606557 0.5476 0.5180 Uncertain 2_79750543_C->T 2 79750543 79750543 C T snp 43.77 0/1 72 4 2 2 0.5 intronic rs10205858 CTNNA2 AU NM_001282598 exon1 c.97+108C>T 0.641773 0.6538 Uncertain 2_79878664_A->G 2 79878664 79878664 A G snp 3309.77 0/1 99 250 120 130 0.52 intronic rs3739139 CTNNA2 AU NM_001282598 exon2 c.128339-13A>G 0.309704 0.2976 0.256741 0.2260 0.2949 Uncertain 2_79878922_T->A 2 79878922 79878922 T A snp 398.77 0/1 99 19 6 13 0.68 intronic rs78677982 CTNNA2 AU NM_001164883 exon2 c.102+138T>A 0.143371 0.3661 Uncertain 2_79914570_-->T 2 79914570 79914570 - T indel 223.14 1/1 10 16 2 14 0.88 intronic rs35164413 CTNNA2 AU NM_001164883 exon2 c.102+35786insT 0.677117 0.8016 Uncertain 2_80101321_T->G 2 80101321 80101321 T G snp 1377.77 0/1 99 131 70 61 0.47 exonic rs61291641 CTNNA2 AU synonymous SNV NM_001164883 exon6 c.T705G p.A235A 0.280152 0.4425 0.123392 0.1898 0.4319 Uncertain 2_80101511_T->C 2 80101511 80101511 T C snp 268.77 0/1 99 14 5 9 0.64 intronic rs76283151 CTNNA2 AU NM_001164883 exon6 c.222786+43T>C 0.153754 0.3313 0.039075 0.0888 0.3229 Uncertain 2_80529956_T->C 2 80529956 80529956 T C snp 3204.83 0/1 99 234 113 121 0.52 exonic rs6733871 LRRTM1 AU nonsynonymous SNV NM_178839 exon2 c.A989G p.N330S 0.367412 0.4831 0.270414 0.2693 0.4946 0.000 P -0.926 T 0.0 T 0.0 T Pathogenic 2_80540530_G->C 2 80540530 80540530 G C snp 283.77 0/1 83 14 3 11 0.79 intronic rs56757449 CTNNA2 AU NM_001164883 exon8 c.741653-79805G>C 0.211062 0.1806 Uncertain 2_80772972_G->A 2 80772972 80772972 G A snp 371.77 0/1 99 33 19 14 0.42 intronic rs2276659 CTNNA2 AU NM_001282600 exon5 c.152648-59G>A 0.497005 0.4335 Uncertain 2_80801524_T->C 2 80801524 80801524 T C snp 456.77 0/1 99 34 14 20 0.59 intronic rs2276661 CTNNA2 AU NM_001282600 exon7 c.181056+85T>C 0.157947 0.1369 Uncertain 2_80809027_C->G 2 80809027 80809027 C G snp 324.77 0/1 99 20 10 10 0.5 intronic rs17019401 CTNNA2 AU NM_001282600 exon8 c.188561+83C>G 0.35623 0.5496 Uncertain 2_80831481_G->A 2 80831481 80831481 G A snp 287.77 0/1 99 19 9 10 0.53 intronic rs2302875 CTNNA2 AU NM_001282600 exon10 c.210921+177G>A 0.257188 0.4216 Uncertain 2_80846147_-->T 2 80846147 80846147 - T indel 109.27 1/1 1 9 1 8 0.89 intronic rs56987036 CTNNA2 AU NM_001282597 exon18 c.967527-62insT 0.444089 0.5119 Uncertain 2_80874623_A->T 2 80874623 80874623 A T snp 470.77 0/1 99 29 11 18 0.62 intronic rs77229391 CTNNA2 AU NM_001282600 exon12 c.254326-86A>T 0.0664936 0.0893 Uncertain 2_84517847_G->A 2 84517847 84517847 G A snp 777.77 0/1 99 48 24 24 0.5 ncRNA_exonic FUNDC2P2 AU Uncertain 2_84518438_T->C 2 84518438 84518438 T C snp 640.77 0/1 99 58 30 28 0.48 ncRNA_exonic rs1968722 FUNDC2P2 AU 0.635583 0.878 0.7300 0.8891 Uncertain 2_84650707_A->G 2 84650707 84650707 A G snp 1321.77 1/1 96 42 0 42 1.0 UTR3 rs2832 SUCLG1 AR 0.802117 0.9246 Uncertain 2_84676163_C->A 2 84676163 84676163 C A snp 848.77 1/1 60 35 0 35 1.0 intronic rs10202632 SUCLG1 AR NM_003849 exon8 c.25903-609C>A 0.861022 0.9246 Uncertain 2_84755996_-->T 2 84755996 84755996 - T indel 1300.73 1/1 99 52 0 52 1.0 intronic rs35980296 DNAH6 AU NM_001370 exon4 c.11077-31insT 0.677915 0.8135 0.5303 0.6653 Uncertain 2_84756049_G->A 2 84756049 84756049 G A snp 4107.77 1/1 99 150 0 150 1.0 exonic rs4832089 DNAH6 AU nonsynonymous SNV NM_001370 exon4 c.G421A p.V141M 0.944688 0.997 0.923565 0.9488 0.9984 0.37 T 0.0 P -1.053 T 0.001 T 0.002 T Pathogenic 2_84756341_T->G 2 84756341 84756341 T G snp 221.84 1/1 18 8 0 8 1.0 intronic rs4832090 DNAH6 AU NM_001370 exon4 c.11340+51T>G 0.974441 0.997 Uncertain 2_84771480_G->A 2 84771480 84771480 G A snp 2547.77 1/1 99 97 0 97 1.0 exonic rs1037863 DNAH6 AU synonymous SNV NM_001370 exon5 c.G786A p.L262L 0.929513 0.997 0.911262 0.9439 0.9984 Uncertain 2_84771567_C->T 2 84771567 84771567 C T snp 1862.77 1/1 99 67 0 67 1.0 exonic rs1542477 DNAH6 AU synonymous SNV NM_001370 exon5 c.C873T p.S291S 0.816693 0.9861 0.809294 0.8836 0.9879 Uncertain 2_84774893_G->A 2 84774893 84774893 G A snp 54.74 1/1 6 2 0 2 1.0 intronic rs12474026 DNAH6 AU NM_001370 exon7 c.29786+157G>A 0.816693 0.9861 Uncertain 2_84775673_A->T 2 84775673 84775673 A T snp 349.78 1/1 27 10 0 10 1.0 intronic rs60315854 DNAH6 AU NM_001370 exon8 c.30591+132A>T 0.338259 0.6806 Uncertain 2_84800605_C->A 2 84800605 84800605 C A snp 2246.77 1/1 99 81 0 81 1.0 exonic rs11891970 DNAH6 AU synonymous SNV NM_001370 exon12 c.C1818A p.A606A 0.929712 0.997 0.908811 0.9465 0.9979 Uncertain 2_84806553_G->A 2 84806553 84806553 G A snp 510.77 1/1 39 14 0 14 1.0 intronic rs6547569 DNAH6 AU NM_001370 exon14 c.61700-97G>A 0.97484 0.997 Uncertain 2_84806637_T->C 2 84806637 84806637 T C snp 608.77 0/1 99 47 22 25 0.53 intronic rs542435371 DNAH6 AU NM_001370 exon14 c.61700-13T>C 0.000199681 0.001 9.087e-05 0.0013 Uncertain 2_84822715_C->T 2 84822715 84822715 C T snp 1022.77 1/1 75 32 0 32 1.0 intronic rs6761632 DNAH6 AU NM_001370 exon18 c.77819-54C>T 0.866214 0.9861 Uncertain 2_84834063_T->C 2 84834063 84834063 T C snp 6387.77 1/1 99 243 0 243 1.0 intronic rs4276039 DNAH6 AU NM_001370 exon21 c.89149-36T>C 0.97484 0.997 0.959264 0.9607 0.9984 Uncertain 2_84834237_T->C 2 84834237 84834237 T C snp 3981.77 1/1 99 133 0 133 1.0 intronic rs4441485 DNAH6 AU NM_001370 exon21 c.89269+18T>C 0.826278 0.9861 0.811432 0.8796 0.9856 Uncertain 2_84897361_T->A 2 84897361 84897361 T A snp 180.9 1/1 15 5 0 5 1.0 intronic rs12470102 DNAH6 AU NM_001370 exon39 c.152501-90T>A 0.773163 0.9276 Uncertain 2_84897517_A->G 2 84897517 84897517 A G snp 1043.77 1/1 75 39 0 39 1.0 exonic rs1881095 DNAH6 AU synonymous SNV NM_001370 exon39 c.A6372G p.L2124L 0.982228 1 0.962516 0.9733 1 Uncertain 2_84899360_G->A 2 84899360 84899360 G A snp 603.77 1/1 45 17 0 17 1.0 intronic rs4832106 DNAH6 AU NM_001370 exon40 c.154500-90G>A 0.767372 0.9276 Uncertain 2_85108252_-->C 2 85108252 85108252 - C indel 669.73 1/1 51 19 0 19 1.0 UTR5 rs34667238 TRABD2A AU 1 1 Uncertain 2_85273149_C->T 2 85273149 85273149 C T snp 1655.77 1/1 99 56 0 56 1.0 intronic rs3769765 KCMF1 AU NM_020122 exon5 c.74652-77C>T 0.221246 0.3373 Uncertain 2_85273502_C->T 2 85273502 85273502 C T snp 34.77 0/1 63 5 3 2 0.4 intronic rs3769764 KCMF1 AU NM_020122 exon5 c.74827+101C>T 0.0213658 0.0625 Uncertain 2_85276866_T->C 2 85276866 85276866 T C snp 408.77 1/1 33 11 0 11 1.0 intronic rs17025830 KCMF1 AU NM_020122 exon6 c.78197+95T>C 0.117612 0.3313 Uncertain 2_85360829_GGC->- 2 85360829 85360831 GGC - indel 488.73 0/1 99 17 6 11 0.65 exonic rs566806913 TCF7L1 AU nonframeshift deletion NM_031283 exon1 c.22_24del p.8_8del 0.382588 0.2044 0.75 . Uncertain 2_85510425_G->A 2 85510425 85510425 G A snp 116.77 0/1 66 6 2 4 0.67 intronic rs7601117 TCF7L1 AU NM_031283 exon4 c.149810-192G>A 0.238818 0.2788 Uncertain 2_85510777_A->G 2 85510777 85510777 A G snp 790.77 0/1 99 49 18 31 0.63 intronic rs7574856 TCF7L1 AU NM_031283 exon4 c.149894+76A>G 0.571086 0.4415 Uncertain 2_85531579_C->A 2 85531579 85531579 C A snp 34.77 0/1 63 7 5 2 0.29 intronic rs11900333 TCF7L1 AU NM_031283 exon7 c.170654+118C>A 0.415735 0.5367 Uncertain 2_85532205_C->G 2 85532205 85532205 C G snp 928.77 1/1 69 23 0 23 1.0 intronic rs6741339 TCF7L1 AU NM_031283 exon8 c.171575-177C>G 0.884185 0.9345 Uncertain 2_85549868_A->G 2 85549868 85549868 A G snp 6470.77 1/1 99 245 1 244 1.0 exonic;splicing rs4240199 TGOLN2;TGOLN2 UN nonsynonymous SNV NM_001206841 exon4 c.T1322C p.L441P 0.778954 0.9563 0.663431 0.6764 0.9643 0.15 T 1.0 P -1.042 T Pathogenic 2_85549874_A->G 2 85549874 85549874 A G snp 2742.77 0/1 99 245 129 116 0.47 exonic rs3637 TGOLN2 AU nonsynonymous SNV NM_001206841 exon4 c.T1316C p.F439S 0.388179 0.504 0.309540 0.4144 0.5023 1 T 1.0 P -0.971 T Pathogenic 2_85552186_C->A 2 85552186 85552186 C A snp 1434.77 1/1 99 45 0 45 1.0 intronic rs7572750 TGOLN2 AU NM_001206841 exon2 c.2294+65C>A 0.71845 0.9563 Uncertain 2_85552261_A->G 2 85552261 85552261 A G snp 71.77 0/1 99 8 5 3 0.38 intronic rs2292653 TGOLN2 AU NM_001206841 exon2 c.2294+140A>G 0.126597 0.2857 Uncertain 2_85553784_C->T 2 85553784 85553784 C T snp 4291.77 1/1 99 154 0 154 1.0 exonic rs1044973 TGOLN2 AU synonymous SNV NM_001206841 exon2 c.G1071A p.G357G 0.658746 0.875 0.552496 0.6046 0.8845 Uncertain 2_85554080_G->A 2 85554080 85554080 G A snp 8710.77 1/1 99 250 0 250 1.0 exonic rs4247303 TGOLN2 AU nonsynonymous SNV NM_001206841 exon2 c.C775T p.R259W 0.579673 0.8671 0.450041 0.5586 0.8804 0.01 T 0.000 P -0.807 T 0.999 D 0.844 D Pathogenic 2_85554913_T->G 2 85554913 85554913 T G snp 37.77 0/1 66 19 13 6 0.32 intronic TGOLN2 AU NM_001206841 exon3 c.4981+105T>G Uncertain 2_85555262_T->G 2 85555262 85555262 T G snp 56.74 1/1 6 2 0 2 1.0 UTR5 rs10460585 TGOLN2 AU 0.786542 0.9573 Uncertain 2_85570159_T->G 2 85570159 85570159 T G snp 48.77 0/1 77 7 4 3 0.43 UTR3 rs13397464 RETSAT AU 0.063099 0.0486 Uncertain 2_85570186_G->A 2 85570186 85570186 G A snp 274.77 0/1 99 18 9 9 0.5 UTR3 rs4832001 RETSAT AU Uncertain 2_85570942_G->C 2 85570942 85570942 G C snp 924.77 0/1 99 44 14 30 0.68 intronic rs9309620 RETSAT AU NM_017750 exon2 c.557+21G>C 0.5030 0.5068 Uncertain 2_85571710_A->G 2 85571710 85571710 A G snp 2271.77 1/1 99 69 0 69 1.0 intronic rs4832171 RETSAT AU NM_017750 exon5 c.1352-6A>G 0.91254 0.999 0.806013 0.8138 0.9997 Uncertain 2_85573033_G->A 2 85573033 85573033 G A snp 4205.77 1/1 99 154 0 154 1.0 intronic rs908302 RETSAT AU NM_017750 exon6 c.2733-64G>A 0.701877 0.9573 0.6782 0.9645 Uncertain 2_85573049_G->A 2 85573049 85573049 G A snp 1947.77 0/1 99 158 77 81 0.51 intronic rs908304 RETSAT AU NM_017750 exon6 c.2733-48G>A 0.39976 0.5258 0.321390 0.4192 0.5220 Uncertain 2_85576452_TC->- 2 85576452 85576453 TC - indel 552.73 0/1 99 35 21 14 0.4 intronic rs10590946 RETSAT AU NM_017750 exon7 c.6142-54_6142-53delTC 0.217652 0.3522 Uncertain 2_85578098_A->- 2 85578098 85578098 A - indel 1104.73 0/1 99 53 20 33 0.62 exonic rs534908680 RETSAT AU frameshift deletion NM_017750 exon3 c.402delT p.F134fs 0.00219649 0.0069 0.001198 0.0025 0.0047 Pathogenic 2_85622059_T->C 2 85622059 85622059 T C snp 825.77 0/1 99 65 32 33 0.51 exonic rs6886 CAPG AU nonsynonymous SNV NM_001256139 exon10 c.A1004G p.H335R 0.585064 0.504 0.674381 0.5882 0.4937 0.33 T 0.000 P -1.007 T 0.0 T 0.0 T Pathogenic 2_85626581_A->T 2 85626581 85626581 A T snp 191.77 0/1 48 8 2 6 0.75 intronic rs35391999 CAPG AU NM_001747 exon5 c.4393+173A>T 0.584065 0.5 Uncertain 2_85662650_A->G 2 85662650 85662650 A G snp 256.77 0/1 99 40 30 10 0.25 intronic rs6547618 SH2D6 AU NM_198482 exon2 c.541+31A>G 0.603435 0.5823 0.671716 0.6109 0.5869 Uncertain 2_85766545_C->T 2 85766545 85766545 C T snp 936.77 0/1 99 80 43 37 0.46 intronic rs2289972 MAT2A AU NM_005911 exon1 c.91+44C>T 0.28754 0.3095 0.300740 0.2883 0.3635 Uncertain 2_85769246_G->A 2 85769246 85769246 G A snp 1566.77 1/1 99 46 0 46 1.0 intronic rs1078005 MAT2A AU NM_005911 exon6 c.2867-31G>A 0.996605 1 0.988698 0.9879 1 Uncertain 2_85769711_C->G 2 85769711 85769711 C G snp 1948.77 0/1 99 160 74 86 0.54 exonic rs1078004 MAT2A AU synonymous SNV NM_005911 exon7 c.C792G p.R264R 0.492812 0.3859 0.533062 0.4529 0.3880 Uncertain 2_85769975_A->G 2 85769975 85769975 A G snp 770.77 0/1 99 54 24 30 0.56 intronic rs2043675 MAT2A AU NM_005911 exon8 c.3613-48A>G 0.28734 0.3095 0.304552 0.2690 0.3247 Uncertain 2_85777270_G->A 2 85777270 85777270 G A snp 709.77 0/1 99 49 23 26 0.53 intronic rs2028898 GGCX AU,AR NM_001142269 exon1 c.193+21G>A 0.286142 0.3095 0.302860 0.2696 0.3292 Uncertain 2_85780131_G->A 2 85780131 85780131 G A snp 2571.77 0/1 99 212 108 104 0.49 exonic rs2592551 GGCX AU,AR synonymous SNV NM_000821 exon9 c.C1218T p.R406R 0.285942 0.3095 0.302553 0.2661 0.3253 Uncertain 2_85780536_C->T 2 85780536 85780536 C T snp 1527.77 0/1 99 112 47 65 0.58 exonic rs699664 GGCX AU,AR nonsynonymous SNV NM_000821 exon8 c.G974A p.R325Q 0.377796 0.3095 0.419191 0.3198 0.3249 0.67 T 0.0 P -0.957 T 0.007 T 0.004 T ID=CM073086;DIS=Higher body mass index, association with;TAG=DP;PUB=17029979 DP Pathogenic 2_85781318_T->G 2 85781318 85781318 T G snp 2190.77 1/1 99 81 0 81 1.0 exonic rs1254896 GGCX AU,AR synonymous SNV NM_000821 exon7 c.A837C p.G279G 0.996605 1 0.988698 0.9879 1 Uncertain 2_85788175_T->A 2 85788175 85788175 T A snp 413.77 0/1 99 46 26 20 0.43 intronic rs7568458 GGCX AU,AR NM_000821 exon14 c.11052+67T>A 0.486821 0.3859 Uncertain 2_85806068_T->C 2 85806068 85806068 T C snp 368.77 0/1 99 25 12 13 0.52 intronic rs3731827 VAMP8 AU NM_003761 exon2 c.1362-63T>C 0.45008 0.3859 Uncertain 2_85806266_C->T 2 85806266 85806266 C T snp 539.77 0/1 99 62 40 22 0.35 exonic rs3731828 VAMP8 AU synonymous SNV NM_003761 exon2 c.C138T p.N46N 0.283347 0.3085 0.300477 0.2990 0.3518 Uncertain 2_85808737_A->G 2 85808737 85808737 A G snp 2474.77 0/1 99 206 102 104 0.5 exonic rs1009 VAMP8 AU synonymous SNV NM_003761 exon3 c.A201G p.R67R 0.439497 0.3859 0.459557 0.4126 0.3915 Uncertain 2_85808871_C->T 2 85808871 85808871 C T snp 1904.77 0/1 99 136 55 81 0.6 UTR3 rs1058588 VAMP8 AU 0.416733 0.3859 0.433723 0.4057 0.3910 Uncertain 2_85808982_T->C 2 85808982 85808982 T C snp 135.77 0/1 99 10 5 5 0.5 UTR3 rs1010 VAMP8 AU 0.439497 0.3829 Uncertain 2_85811592_C->T 2 85811592 85811592 C T snp 197.77 0/1 99 15 6 9 0.6 UTR5 rs11311 VAMP5 AU 0.278954 0.3095 0.3831 0.75 Uncertain 2_85820412_C->T 2 85820412 85820412 C T snp 43.77 0/1 70 5 3 2 0.4 UTR3 rs14242 VAMP5 AU 0.139776 0.2937 Uncertain 2_85823168_G->- 2 85823168 85823168 G - indel 135.73 0/1 94 9 3 6 0.67 intronic rs35880310 RNF181 AU NM_016494 exon1 c.86+196delG Uncertain 2_85823632_C->T 2 85823632 85823632 C T snp 141.77 0/1 99 10 5 5 0.5 intronic rs2232745 RNF181 AU NM_016494 exon2 c.755-9C>T 0.226637 0.2927 0.165385 0.1011 0.3051 Uncertain 2_85824073_T->C 2 85824073 85824073 T C snp 1923.77 0/1 99 185 107 78 0.42 intronic rs2232747 RNF181 AU NM_016494 exon3 c.1168+19T>C 0.227636 0.2966 0.166000 0.0979 0.3113 Uncertain 2_85824084_G->C 2 85824084 85824084 G C snp 1849.77 0/1 99 180 105 75 0.42 intronic rs2232748 RNF181 AU NM_016494 exon3 c.1168+30G>C 0.477636 0.38 0.480163 0.3671 0.3689 0.000 P -1.039 T Uncertain 2_85824251_T->C 2 85824251 85824251 T C snp 2271.77 0/1 99 177 86 91 0.51 exonic rs6643 RNF181 AU nonsynonymous SNV NM_016494 exon4 c.T352C p.Y118H 0.227436 0.2966 0.166077 0.0980 0.3110 0.88 T 0.000 P -0.975 T 0.0 T 0.0 T Pathogenic 2_85824468_C->T 2 85824468 85824468 C T snp 249.77 0/1 99 17 9 8 0.47 intronic rs2232750 RNF181 AU NM_016494 exon5 c.1681-99C>T 0.139377 0.2917 Uncertain 2_85826132_G->A 2 85826132 85826132 G A snp 46.77 0/1 33 3 1 2 0.67 UTR3 rs1044158 TMEM150A AU 0.460463 0.3839 Uncertain 2_85828014_T->G 2 85828014 85828014 T G snp 403.77 0/1 99 24 7 17 0.71 intronic rs6733550 TMEM150A AU NM_001031738 exon5 c.1945-129T>G 0.478235 0.378 Uncertain 2_85828972_C->G 2 85828972 85828972 C G snp 2188.77 0/1 99 224 127 97 0.43 intronic rs3827550 TMEM150A AU NM_001031738 exon7 c.2808-34C>G 0.132788 0.2758 0.070506 0.0658 0.2972 Uncertain 2_85839157_G->C 2 85839157 85839157 G C snp 224.77 0/1 99 15 7 8 0.53 UTR5 rs778460121 C2orf68 AU 0.0003 0.0009 Uncertain 2_85846329_G->A 2 85846329 85846329 G A snp 1709.77 0/1 99 165 83 82 0.5 intronic rs13383605 USP39 AU NM_006590 exon2 c.3024-13G>A 0.134185 0.2847 0.069891 0.0689 0.3087 Uncertain 2_85848748_T->- 2 85848748 85848748 T - indel 474.73 1/1 49 45 1 44 0.98 intronic rs35865728 USP39 AU NM_006590 exon3 c.5384+46delT 0.601238 0.6339 0.5273 0.5887 Uncertain 2_85852667_G->A 2 85852667 85852667 G A snp 2088.77 0/1 99 173 81 92 0.53 exonic rs2304564 USP39 AU synonymous SNV NM_001256728 exon4 c.G267A p.V89V 0.132588 0.2847 0.069968 0.0653 0.3034 Uncertain 2_85872285_T->A 2 85872285 85872285 T A snp 157.77 0/1 99 10 3 7 0.7 intronic rs10182351 USP39 AU NM_006590 exon11 c.28888+79T>A 0.136182 0.2847 Uncertain 2_85890753_A->G 2 85890753 85890753 A G snp 1010.77 0/1 99 79 41 38 0.48 intronic rs762548 SFTPB AR NM_198843 exon5 c.2191-33A>G 0.177316 0.2232 0.131502 0.1208 0.2582 Uncertain 2_85890771_T->G 2 85890771 85890771 T G snp 2504.77 1/1 99 90 1 89 0.99 intronic rs893159 SFTPB AR NM_198843 exon5 c.2191-15T>G 0.97484 0.999 0.936201 0.9365 0.9987 Uncertain 2_85894308_G->T 2 85894308 85894308 G T snp 1166.77 0/1 99 122 68 54 0.44 intronic rs3024798 SFTPB AR NM_198843 exon9 c.5705+8G>T 0.296925 0.37 0.282869 0.3553 0.3835 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000151852.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 2_85895338_T->G 2 85895338 85895338 T G snp 625.77 1/1 45 24 0 24 1.0 exonic rs2077079 SFTPB AR nonsynonymous SNV NM_198843 exon2 c.A5C p.H2P 0.41853 0.505 0.351101 0.4254 0.5353 0.000 P -0.918 T 0.0 T 0.0 T CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000151854.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 ID=CR077669;DIS=Increased promoter activity;TAG=FP;PUB=17071721 FP Pathogenic 2_85921353_G->T 2 85921353 85921353 G T snp 632.77 1/1 48 20 0 20 1.0 upstream rs1866140 GNLY AU 0.323083 0.5823 Uncertain 2_85921389_G->C 2 85921389 85921389 G C snp 848.77 1/1 63 26 0 26 1.0 upstream rs1866139 GNLY AU 0.542332 0.5992 Uncertain 2_85921734_-->C 2 85921734 85921734 - C indel 206.8 1/1 18 7 0 7 1.0 intronic rs397707643 GNLY AU NM_006433 exon1 c.52+141insC 1 1 Uncertain 2_85921761_A->G 2 85921761 85921761 A G snp 50.74 1/1 6 2 0 2 1.0 intronic rs1866138 GNLY AU NM_006433 exon1 c.52+168A>G 0.515775 0.5873 Uncertain 2_85921992_T->C 2 85921992 85921992 T C snp 675.77 1/1 51 19 0 19 1.0 UTR5 rs2043760 GNLY AU 0.617812 0.6538 0.6478 0.6818 Uncertain 2_85922860_G->T 2 85922860 85922860 G T snp 48.74 1/1 6 2 0 2 1.0 intronic rs2070966 GNLY AU NM_006433 exon3 c.1539-220G>T 0.357628 0.5923 Uncertain 2_85924729_C->T 2 85924729 85924729 C T snp 3813.77 1/1 99 154 0 154 1.0 exonic rs11127 GNLY AU nonsynonymous SNV NM_006433 exon4 c.C356T p.T119I 0.34365 0.5933 0.290328 0.3822 0.5812 0.46 T 0.0 P -0.915 T 0.026 T 0.024 T Pathogenic 2_85924899_T->A 2 85924899 85924899 T A snp 881.77 1/1 66 28 0 28 1.0 intronic rs1437742 GNLY AU NM_006433 exon4 c.3259+99T>A 0.457468 0.5933 Uncertain 2_85925386_T->C 2 85925386 85925386 T C snp 173.9 1/1 15 5 0 5 1.0 intronic rs1866141 GNLY AU NM_006433 exon5 c.4145-300T>C 0.457668 0.5933 Uncertain 2_85925529_A->G 2 85925529 85925529 A G snp 3930.77 1/1 99 148 0 148 1.0 intronic rs4240200 GNLY AU NM_006433 exon5 c.4145-157A>G 0.332668 0.5794 0.4446 0.6214 Uncertain 2_85925667_G->A 2 85925667 85925667 G A snp 5356.77 1/1 99 208 2 206 0.99 intronic rs4240201 GNLY AU NM_006433 exon5 c.4145-19G>A 0.343051 0.5923 0.290097 0.3824 0.5819 Uncertain 2_85925680_T->G 2 85925680 85925680 T G snp 5061.77 1/1 99 194 0 194 1.0 intronic rs4240202 GNLY AU NM_006433 exon5 c.4145-6T>G 0.457069 0.5923 0.422420 0.4182 0.5819 Uncertain 2_85925756_C->G 2 85925756 85925756 C G snp 3724.77 1/1 99 128 0 128 1.0 UTR3 rs7908 GNLY AU 0.456869 0.5923 0.410644 0.4207 0.5844 Uncertain 2_85925848_C->G 2 85925848 85925848 C G snp 1513.77 1/1 99 54 0 54 1.0 UTR3 rs12845 GNLY AU 0.456869 0.5923 0.4747 0.6353 0.0 P -0.915 T Uncertain 2_86014345_G->A 2 86014345 86014345 G A snp 2253.77 0/1 99 193 94 99 0.51 UTR3 rs736991 ATOH8 AU 0.301118 0.0734 Uncertain 2_86107840_G->A 2 86107840 86107840 G A snp 96.28 1/1 9 3 0 3 1.0 intronic rs11127008 ST3GAL5 AR NM_003896 exon7 c.48680-8106G>A 0.580871 0.6885 Uncertain 2_86107952_A->- 2 86107952 86107952 A - indel 197.75 1/1 24 10 0 10 1.0 intronic rs34410645 ST3GAL5 AR NM_003896 exon7 c.48680-7994delA Uncertain 2_86107987_T->C 2 86107987 86107987 T C snp 390.77 1/1 30 14 0 14 1.0 intronic rs11127009 ST3GAL5 AR NM_003896 exon7 c.48680-7959T>C 0.580871 0.6885 0.554412 0.5391 0.6714 Uncertain 2_86116168_G->T 2 86116168 86116168 G T snp 99.28 1/1 9 3 0 3 1.0 upstream rs28364795 ST3GAL5 AR 0.384185 0.4722 Uncertain 2_86116169_A->G 2 86116169 86116169 A G snp 99.28 1/1 9 3 0 3 1.0 upstream rs28364794 ST3GAL5 AR 0.5625 0.7312 Uncertain 2_86292341_T->C 2 86292341 86292341 T C snp 547.77 0/1 99 37 19 18 0.49 intronic rs2288112 POLR1A AD NM_015425 exon21 c.37851-55T>C 0.0235623 0.1141 Uncertain 2_86292656_C->T 2 86292656 86292656 C T snp 2768.77 1/1 99 99 0 99 1.0 intronic rs311563 POLR1A AD NM_015425 exon21 c.38043+68C>T 0.78734 0.6567 Uncertain 2_86302103_A->G 2 86302103 86302103 A G snp 185.9 1/1 15 7 0 7 1.0 intronic rs3815840 POLR1A AD NM_015425 exon23 c.47607-49A>G 0.815895 0.754 0.851449 0.8714 0.7586 Uncertain 2_86305123_T->C 2 86305123 86305123 T C snp 3372.77 1/1 99 110 0 110 1.0 intronic rs2288117 POLR1A AD NM_015425 exon24 c.50559+19T>C 0.894768 0.9792 0.892936 0.9233 0.9816 Uncertain 2_86310110_C->T 2 86310110 86310110 C T snp 953.77 1/1 69 33 0 33 1.0 intronic rs2288118 POLR1A AD NM_015425 exon28 c.55659-94C>T 0.683307 0.6567 Uncertain 2_86315741_C->T 2 86315741 86315741 C T snp 2692.77 1/1 99 100 0 100 1.0 exonic rs2288120 POLR1A AD synonymous SNV NM_015425 exon6 c.G678A p.T226T 0.657947 0.6567 0.708025 0.7948 0.6568 Uncertain 2_86316834_G->T 2 86316834 86316834 G T snp 56.74 1/1 6 2 0 2 1.0 intronic rs2288121 POLR1A AD NM_015425 exon31 c.62399-110G>T 0.763778 0.753 Uncertain 2_86317037_G->C 2 86317037 86317037 G C snp 3602.77 1/1 99 132 0 132 1.0 exonic rs4832242 POLR1A AD nonsynonymous SNV NM_015425 exon4 c.C448G p.P150A 0.754992 0.753 0.787864 0.8496 0.7533 0.94 T 0.0 P -0.994 T 0.009 T 0.01 T Pathogenic 2_86332809_G->A 2 86332809 86332809 G A snp 5000.77 1/1 99 180 1 179 0.99 intronic rs4832245 POLR1A AD NM_015425 exon34 c.78277-13G>A 0.677716 0.6558 0.732508 0.8015 0.6568 Uncertain 2_86334199_G->A 2 86334199 86334199 G A snp 4423.77 1/1 99 148 0 148 1.0 intronic rs2367201 PTCD3 AU NM_017952 exon1 c.104+725G>A 0.686901 0.6558 0.8148 0.6440 Uncertain 2_86335718_G->A 2 86335718 86335718 G A snp 101.28 1/1 9 4 0 4 1.0 intronic rs979940 PTCD3 AU NM_017952 exon3 c.2289+59G>A 0.881589 0.9792 0.872098 Uncertain 2_86337930_T->C 2 86337930 86337930 T C snp 347.78 1/1 27 9 0 9 1.0 intronic rs1075622 PTCD3 AU NM_017952 exon4 c.4865-305T>C 0.677915 0.6558 Uncertain 2_86343476_C->A 2 86343476 86343476 C A snp 267.8 1/1 21 7 0 7 1.0 intronic rs4832022 PTCD3 AU NM_017952 exon5 c.10282-176C>A 0.677716 0.6558 Uncertain 2_86343494_G->A 2 86343494 86343494 G A snp 354.78 1/1 27 11 0 11 1.0 intronic rs4832248 PTCD3 AU NM_017952 exon5 c.10282-158G>A 0.686901 0.6558 Uncertain 2_86344095_G->T 2 86344095 86344095 G T snp 59.74 1/1 6 3 0 3 1.0 intronic rs3764949 PTCD3 AU NM_017952 exon6 c.10807-82G>T 0.33107 0.5079 Uncertain 2_86344367_T->C 2 86344367 86344367 T C snp 513.77 1/1 39 18 0 18 1.0 intronic rs2059353 PTCD3 AU NM_017952 exon6 c.10912+85T>C 0.892971 0.9792 Uncertain 2_86346308_G->A 2 86346308 86346308 G A snp 478.77 1/1 36 12 0 12 1.0 intronic rs6715623 PTCD3 AU NM_017952 exon7 c.12797+141G>A 0.88139 0.9792 Uncertain 2_86350664_A->G 2 86350664 86350664 A G snp 139.03 1/1 12 4 0 4 1.0 intronic rs1025104 PTCD3 AU NM_017952 exon9 c.17453-159A>G 0.592053 0.6558 Uncertain 2_86352010_G->T 2 86352010 86352010 G T snp 746.77 1/1 54 25 0 25 1.0 intronic rs4832250 PTCD3 AU NM_017952 exon10 c.18747-107G>T 0.764177 0.752 Uncertain 2_86352785_G->A 2 86352785 86352785 G A snp 2425.77 1/1 99 77 0 77 1.0 intronic rs4618054 PTCD3 AU NM_017952 exon12 c.19547-132G>A 0.598842 0.6558 Uncertain 2_86352825_C->T 2 86352825 86352825 C T snp 2157.77 1/1 99 73 0 73 1.0 intronic rs6740228 PTCD3 AU NM_017952 exon12 c.19547-92C>T 0.678115 0.6558 Uncertain 2_86353150_G->C 2 86353150 86353150 G C snp 222.84 1/1 18 7 0 7 1.0 intronic rs3731820 PTCD3 AU NM_017952 exon12 c.19633+147G>C 0.677915 0.6558 Uncertain 2_86359405_G->T 2 86359405 86359405 G T snp 3981.77 1/1 99 146 0 146 1.0 intronic rs1559515 PTCD3 AU NM_017952 exon17 c.26070-35G>T 0.678115 0.6567 0.716977 0.7985 0.6574 Uncertain 2_86362204_C->T 2 86362204 86362204 C T snp 1468.77 1/1 99 50 0 50 1.0 intronic rs7606421 PTCD3 AU NM_017952 exon21 c.28740+94C>T 0.680112 0.6558 Uncertain 2_86363074_A->G 2 86363074 86363074 A G snp 2458.77 1/1 99 94 2 92 0.98 ncRNA_exonic rs3770069 SNORD94 AU 0.678115 0.6567 0.733868 0.8045 0.6606 Uncertain 2_86363855_G->C 2 86363855 86363855 G C snp 1009.77 1/1 75 30 0 30 1.0 intronic rs7558040 PTCD3 AU NM_017952 exon22 c.30315+170G>C 0.874601 0.9792 Uncertain 2_86364707_G->- 2 86364707 86364707 G - indel 816.73 1/1 63 22 0 22 1.0 UTR3 rs397985198 PTCD3 AU 0.890575 0.9792 0.876298 0.9108 0.9813 Uncertain 2_86380517_G->C 2 86380517 86380517 G C snp 34.77 0/1 63 7 5 2 0.29 intronic rs17618232 IMMT AU NM_001100169 exon5 c.9292-165G>C 0.0225639 0.1091 Uncertain 2_86385728_C->T 2 86385728 86385728 C T snp 1353.77 1/1 99 50 0 50 1.0 exonic rs1131071 IMMT AU synonymous SNV NM_001100169 exon10 c.G1146A p.G382G 0.190695 0.4831 0.084626 0.1933 0.5191 1.0 P -0.907 T Likely benign 2_86385886_A->G 2 86385886 86385886 A G snp 2140.77 1/1 99 80 0 80 1.0 intronic rs6739460 IMMT AU NM_001100169 exon6 c.14454+42A>G 0.954673 1 0.955522 0.9607 0.9999 Uncertain 2_86400824_G->A 2 86400824 86400824 G A snp 848.77 1/1 63 31 0 31 1.0 exonic rs1050301 IMMT AU nonsynonymous SNV NM_001100169 exon4 c.C370T p.P124S 0.329273 0.5069 0.260836 0.3675 0.5175 0.56 T 1.000 P -0.903 T 0.95 T 0.836 D Pathogenic 2_86434569_T->C 2 86434569 86434569 T C snp 126.03 1/1 12 6 0 6 1.0 intronic rs9309634 MRPL35 AU NM_145644 exon3 c.7837+119T>C 1 1 Uncertain 2_86437551_T->G 2 86437551 86437551 T G snp 1435.77 1/1 99 52 0 52 1.0 intronic rs7565645 MRPL35 AU NM_145644 exon4 c.10989-51T>G 0.762979 0.9851 0.768842 Uncertain 2_86437898_C->T 2 86437898 86437898 C T snp 251.8 1/1 21 8 0 8 1.0 UTR3 rs13353 MRPL35 AU 0.829872 0.9772 Uncertain 2_86440718_T->C 2 86440718 86440718 T C snp 2394.77 1/1 99 89 0 89 1.0 downstream rs11944 MRPL35 AU 0.371206 0.5923 0.4164 0.5720 Uncertain 2_86440763_T->C 2 86440763 86440763 T C snp 640.77 0/1 99 81 49 32 0.4 downstream rs555955291 MRPL35 AU 0.000199681 0.001 Uncertain 2_86478980_T->C 2 86478980 86478980 T C snp 56.74 1/1 6 2 0 2 1.0 intronic rs4832031 REEP1 AD NM_001164730 exon3 c.34857-99T>C 0.433906 0.6577 0.5026 0.6754 Uncertain 2_86479035_A->G 2 86479035 86479035 A G snp 560.77 1/1 42 16 0 16 1.0 intronic rs12988844 REEP1 AD NM_001164730 exon3 c.34857-44A>G 0.433906 0.6577 0.373289 0.4960 0.6732 Uncertain 2_86479287_G->T 2 86479287 86479287 G T snp 2055.77 1/1 99 72 0 72 1.0 intronic rs17438687 REEP1 AD NM_001164730 exon3 c.34971+94G>T 0.433906 0.6577 Uncertain 2_86481835_C->T 2 86481835 86481835 C T snp 2435.77 1/1 99 84 0 84 1.0 exonic rs2276625 REEP1 AD synonymous SNV NM_022912 exon4 c.G285A p.T95T 0.428714 0.5962 0.371828 0.4673 0.6133 CLINSIG=probable-non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=no_assertion_criteria_provided|criteria_provided\x2c_single_submitter;CLNACC=RCV000118136.2|RCV000127760.1;CLNDSDB=MedGen|MedGen;CLNDSDBID=CN169374|CN221809 Uncertain 2_86491245_C->T 2 86491245 86491245 C T snp 3997.77 1/1 99 142 0 142 1.0 intronic rs1863056 REEP1 AD NM_001164732 exon3 c.47003+81C>T 0.382188 0.5833 Uncertain 2_86509267_G->A 2 86509267 86509267 G A snp 2399.77 1/1 99 96 1 95 0.99 intronic rs1863058 REEP1 AD NM_001164732 exon4 c.65131-25G>A 0.405351 0.5833 0.353145 0.4600 0.5980 Uncertain 2_86509388_T->G 2 86509388 86509388 T G snp 1623.77 1/1 99 61 0 61 1.0 intronic rs1863059 REEP1 AD NM_001164732 exon4 c.65204+23T>G 0.583866 0.6488 0.518222 0.5395 0.6571 Uncertain 2_86683642_A->G 2 86683642 86683642 A G snp 532.77 1/1 39 20 0 20 1.0 exonic rs2030259 KDM3A AU nonsynonymous SNV NM_001146688 exon6 c.A634G p.I212V 0.804912 0.9425 0.801784 0.7664 0.9563 0.86 T 0.0 P -0.975 T 0.0 T 0.0 T Pathogenic 2_86691250_G->A 2 86691250 86691250 G A snp 2985.77 1/1 99 121 0 121 1.0 exonic rs12714187 KDM3A AU synonymous SNV NM_001146688 exon9 c.G918A p.A306A 0.804912 0.9425 0.801630 0.7663 0.9563 Uncertain 2_86705565_T->C 2 86705565 86705565 T C snp 1634.77 1/1 99 48 0 48 1.0 intronic rs2292887 KDM3A AU NM_018433 exon15 c.36560-165T>C 0.439497 0.7946 Uncertain 2_86707504_T->C 2 86707504 86707504 T C snp 1547.77 1/1 99 57 0 57 1.0 intronic rs4832290 KDM3A AU NM_018433 exon16 c.38315+19T>C 0.795128 0.9444 0.796555 0.7822 0.9570 Uncertain 2_86737649_G->A 2 86737649 86737649 G A snp 2093.77 1/1 99 75 0 75 1.0 intronic rs966477 CHMP3 AU NM_016079 exon3 c.4676+47G>A 0.671326 0.9375 0.593803 0.6474 0.9547 Uncertain 2_86756209_C->G 2 86756209 86756209 C G snp 178.9 1/1 15 5 0 5 1.0 intronic rs1036940 CHMP3 AU NM_016079 exon4 c.23414-131C>G 0.809505 0.9415 Uncertain 2_86756280_G->A 2 86756280 86756280 G A snp 1073.77 1/1 78 35 0 35 1.0 intronic rs9284788 CHMP3 AU NM_016079 exon4 c.23414-60G>A 0.41853 0.7242 Uncertain 2_86850022_T->C 2 86850022 86850022 T C snp 1441.77 1/1 99 50 0 50 1.0 UTR5 rs396354 RNF103 AU 0.752196 0.9375 0.752774 0.7388 0.9384 Uncertain 2_86947783_C->T 2 86947783 86947783 C T snp 656.77 1/1 48 26 0 26 1.0 UTR5 rs76239019 RMND5A AU 0.825679 0.9792 0.7653 0.9858 Uncertain 2_86978895_G->T 2 86978895 86978895 G T snp 54.74 1/1 6 2 0 2 1.0 intronic rs4832311 RMND5A AU NM_022780 exon3 c.31228-123G>T 0.730631 0.9058 Uncertain 2_86979093_G->A 2 86979093 86979093 G A snp 1097.77 1/1 78 43 0 43 1.0 exonic rs10186663 RMND5A AU synonymous SNV NM_022780 exon3 c.G360A p.E120E 0.689696 0.9058 0.652776 0.6660 0.9154 Uncertain 2_86992337_-->AA 2 86992337 86992337 - AA indel 2572.73 1/1 99 55 0 55 1.0 intronic rs3840984 RMND5A AU NM_022780 exon5 c.44526+21insAA 0.70028 0.8968 0.6844 0.9124 Uncertain 2_86998660_T->- 2 86998660 86998660 T - indel 1006.73 0/1 99 80 20 60 0.75 intronic rs561783917 RMND5A AU NM_022780 exon8 c.50890-20delT 0.534545 0.5833 0.4838 0.5060 Uncertain 2_87015633_-->GA 2 87015633 87015633 - GA indel 4213.73 1/1 99 86 0 86 1.0 intronic rs10684959 CD8A AR NM_001145873 exon2 c.2610-19insGA 0.823482 0.9802 0.833573 0.7954 0.9890 Uncertain 2_87048702_T->G 2 87048702 87048702 T G snp 1350.77 1/1 99 39 0 39 1.0 intronic rs13001400 CD8B AU NM_001178100 exon1 c.104+5861T>G 0.979433 0.999 Uncertain 2_87069379_G->A 2 87069379 87069379 G A snp 2298.77 1/1 99 149 32 117 0.79 UTR3 rs4322832 CD8B AU 0.694688 0.8115 0.6697 0.8007 Uncertain 2_87069431_C->T 2 87069431 87069431 C T snp 3032.77 1/1 99 168 28 140 0.83 exonic rs4514875 CD8B AU synonymous SNV NM_004931 exon6 c.G632A p.X211X 0.694489 0.8105 0.6729 0.8029 Uncertain 2_87073743_A->G 2 87073743 87073743 A G snp 1191.77 1/1 87 47 0 47 1.0 intronic rs4971887 CD8B AU NM_004931 exon3 c.4377-63A>G 0.71865 0.8125 Uncertain 2_87085598_T->C 2 87085598 87085598 T C snp 382.77 1/1 33 11 0 11 1.0 intronic rs28727404 CD8B AU NM_001178100 exon3 c.42802+59T>C Uncertain 2_87092865_C->T 2 87092865 87092865 C T snp 2153.77 1/1 99 100 0 100 1.0 ncRNA_intronic rs10195435 ANAPC1P1 AU 0.508986 0.5437 0.3808 0.5846 Uncertain 2_87276811_T->C 2 87276811 87276811 T C snp 900.77 1/1 78 51 11 40 0.78 ncRNA_exonic rs34148650 LOC285074 AU 0.303714 0.4623 0.3967 0.4795 Uncertain 2_87303060_C->G 2 87303060 87303060 C G snp 543.77 1/1 39 22 0 22 1.0 ncRNA_exonic rs62144417 LOC285074 AU 0.29373 0.4613 Uncertain 2_87355912_C->T 2 87355912 87355912 C T snp 630.77 0/1 99 249 202 47 0.19 intergenic rs201336213 LOC285074 AU Uncertain 2_87356024_C->A 2 87356024 87356024 C A snp 475.77 0/1 99 87 59 28 0.32 intergenic rs3101261 LOC285074 AU Uncertain 2_87356038_G->A 2 87356038 87356038 G A snp 144.77 0/1 99 60 44 16 0.27 intergenic rs201869954 LOC285074 AU Uncertain 2_87356057_A->G 2 87356057 87356057 A G snp 971.77 1/1 72 30 0 30 1.0 intergenic rs4019126 LOC285074 AU Uncertain 2_87407207_C->A 2 87407207 87407207 C A snp 376.77 1/1 39 81 38 43 0.53 intergenic rs2306009 LOC285074 AU 0.473642 0.498 Uncertain 2_87408281_T->G 2 87408281 87408281 T G snp 255.78 1/1 27 40 0 40 1.0 intergenic rs2245238 LOC285074 AU 0.467053 0.4683 0.0040 0.0065 Uncertain 2_87410070_T->C 2 87410070 87410070 T C snp 218.78 1/1 24 29 0 29 1.0 intergenic rs200989520 LOC285074 AU 0.375998 0.3859 0.0068 0.0050 Uncertain 2_87414330_T->C 2 87414330 87414330 T C snp 574.77 1/1 57 147 1 146 0.99 intergenic rs1522044 LOC285074 AU 0.2036 0.2430 Uncertain 2_87929102_C->T 2 87929102 87929102 C T snp 67.28 1/1 9 5 0 5 1.0 intergenic rs71261509 LINC00152 AU 0.652556 0.8522 Uncertain 2_88272798_C->T 2 88272798 88272798 C T snp 347.89 1/1 2 20 7 13 0.65 intronic rs62138194 RGPD1 AU NM_001024457 exon23 c.228335-12447C>T Uncertain 2_88328208_G->A 2 88328208 88328208 G A snp 96.28 1/1 9 3 0 3 1.0 intronic rs12328217 KRCC1 AU NM_016618 exon1 c.802+104G>A 0.720847 0.7649 Uncertain 2_88387403_C->A 2 88387403 88387403 C A snp 1580.77 1/1 99 46 0 46 1.0 exonic rs1542088 SMYD1 AU synonymous SNV NM_198274 exon3 c.C337A p.R113R 0.510383 0.9097 0.6191 0.9148 Uncertain 2_88396080_A->C 2 88396080 88396080 A C snp 559.77 0/1 99 58 30 28 0.48 intronic rs2919883 SMYD1 AU NM_198274 exon6 c.28730-33A>C 0.313898 0.1627 0.378441 0.3362 0.1448 Uncertain 2_88396120_G->A 2 88396120 88396120 G A snp 940.77 0/1 99 85 46 39 0.46 exonic rs2919882 SMYD1 AU synonymous SNV NM_198274 exon6 c.G705A p.E235E 0.313898 0.1627 0.378056 0.3364 0.1442 Uncertain 2_88396123_C->G 2 88396123 88396123 C G snp 1023.77 0/1 99 88 47 41 0.47 exonic rs2970912 SMYD1 AU synonymous SNV NM_198274 exon6 c.C708G p.L236L 0.313898 0.1627 0.378210 0.3358 0.1441 Uncertain 2_88396174_T->C 2 88396174 88396174 T C snp 1497.77 0/1 99 128 67 61 0.48 exonic rs2919881 SMYD1 AU synonymous SNV NM_198274 exon6 c.T759C p.I253I 0.313898 0.1627 0.378902 0.3315 0.1443 Uncertain 2_88408172_A->G 2 88408172 88408172 A G snp 183.77 0/1 99 15 8 7 0.47 intronic rs2919858 SMYD1 AU NM_198274 exon9 c.40675+114A>G 0.775559 0.8343 Uncertain 2_88409719_-->GAGTGTGTGTGT 2 88409719 88409719 - GAGTGTGTGTGT indel 778.73 0/1 99 12 6 6 0.5 intronic SMYD1 AU NM_198274 exon10 c.42489-153insGAGTGTGTGTGT Uncertain 2_88410102_C->G 2 88410102 88410102 C G snp 850.77 0/1 99 57 27 30 0.53 UTR3 rs2289497 SMYD1 AU 0.774361 0.8343 Uncertain 2_88411793_C->A 2 88411793 88411793 C A snp 1480.77 0/1 99 130 72 58 0.45 UTR3 rs2970888 SMYD1 AU 0.791933 0.8343 Uncertain 2_88424066_T->C 2 88424066 88424066 T C snp 1695.77 0/1 99 157 84 73 0.46 exonic rs2241883 FABP1 AU nonsynonymous SNV NM_001443 exon3 c.A280G p.T94A 0.223243 0.2073 0.269875 0.2984 0.2100 0.68 T 0.0 P -0.930 T 0.001 T 0.009 T ID=CM042701;DIS=Increased apo B levels in a high fat diet;TAG=FP;PUB=15308127 FP Pathogenic 2_88472791_G->A 2 88472791 88472791 G A snp 1693.77 1/1 99 67 0 67 1.0 exonic rs4129190 THNSL2 AU nonsynonymous SNV NM_018271 exon1 c.G122A p.G41E 0.868411 0.8591 0.876442 0.8563 0.8435 1 T 0.000 P -0.982 T 0.0 T 0.0 T Pathogenic 2_88472925_A->G 2 88472925 88472925 A G snp 299.77 0/1 99 30 13 17 0.57 intronic rs4129189 THNSL2 AU NM_018271 exon1 c.223+33A>G 0.215855 0.1855 0.251961 0.2320 0.1821 Uncertain 2_88474370_A->G 2 88474370 88474370 A G snp 1442.77 1/1 99 46 0 46 1.0 intronic rs2139100 THNSL2 AU NM_018271 exon2 c.1683+18A>G 0.870208 0.8591 0.877979 0.8586 0.8435 Uncertain 2_88484808_C->A 2 88484808 88484808 C A snp 1413.77 0/1 99 111 51 60 0.54 intronic rs2292869 THNSL2 AU NM_018271 exon7 c.12177-38C>A 0.22484 0.5565 0.094811 0.1810 0.5412 Uncertain 2_88485392_G->C 2 88485392 88485392 G C snp 999.77 1/1 75 29 0 29 1.0 intronic rs1878810 THNSL2 AU NM_001244678 exon6 c.10593-24G>C 0.877196 0.9415 0.864453 0.8723 0.9348 Uncertain 2_88751751_-->G 2 88751751 88751751 - G indel 641.73 1/1 48 16 0 16 1.0 exonic rs11456039 FOXI3 AU unknown 1 1 1 . Uncertain 2_88825316_T->- 2 88825316 88825316 T - indel 74.73 0/1 99 16 7 9 0.56 intronic rs561067750 TEX37 AU NM_152670 exon2 c.27+127delT 0.264577 0.3532 Uncertain 2_88826071_G->C 2 88826071 88826071 G C snp 1342.77 0/1 99 129 65 64 0.5 intronic rs58882124 TEX37 AU NM_152670 exon3 c.853+56G>C 0.123403 0.251 0.124617 Uncertain 2_88828744_G->A 2 88828744 88828744 G A snp 3671.77 0/1 99 249 113 136 0.55 exonic rs183643261 TEX37 AU nonsynonymous SNV NM_152670 exon4 c.G295A p.E99K 0.000399361 0.001 0.0002 0.0014 0.19 T 1 N -1.032 T 0.0 T 0.0 T Pathogenic 2_88870632_A->T 2 88870632 88870632 A T snp 179.77 0/1 99 20 12 8 0.4 ncRNA_intronic rs4972221 LOC101928371 AU 0.648762 0.4663 Uncertain 2_88874891_C->A 2 88874891 88874891 C A snp 2272.77 0/1 99 245 142 103 0.42 exonic rs1805165 EIF2AK3 AR nonsynonymous SNV NM_004836 exon13 c.G2110T p.A704S 0.720647 0.5149 0.801707 0.7021 0.5076 1 T 0.000 P -0.930 T 0.003 T 0.003 T CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000116968.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 2_88875982_A->- 2 88875982 88875982 A - indel 95.73 0/1 99 26 19 7 0.27 intronic rs367967741 EIF2AK3 AR NM_004836 exon6 c.18818-89delA Uncertain 2_88879131_T->C 2 88879131 88879131 T C snp 1669.77 0/1 99 128 60 68 0.53 exonic rs1805164 EIF2AK3 AR synonymous SNV NM_004836 exon11 c.A1791G p.Q597Q 0.258187 0.3115 0.273105 0.2854 0.3068 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000116967.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 2_88895123_T->C 2 88895123 88895123 T C snp 1669.77 0/1 99 138 69 69 0.5 exonic rs13045 EIF2AK3 AR nonsynonymous SNV NM_004836 exon3 c.A497G p.Q166R 0.648962 0.4663 0.734738 0.6379 0.4712 1 T 0.000 P -0.950 T 0.0 T 0.0 T ID=CM138802;DIS=Wolcott-Rallison syndrome;TAG=R;PUB=24032041 R Pathogenic 2_88895351_T->C 2 88895351 88895351 T C snp 648.77 0/1 99 63 33 30 0.48 intronic rs7571971 EIF2AK3 AR NM_004836 exon15 c.37928+170T>C 0.720847 0.5149 0.6829 0.5448 Uncertain 2_88913273_G->C 2 88913273 88913273 G C snp 2035.77 0/1 99 228 134 94 0.41 exonic rs867529 EIF2AK3 AR nonsynonymous SNV NM_004836 exon2 c.C407G p.S136C 0.280551 0.4851 0.198370 0.2983 0.4939 0.17 T 0.869 P -0.898 T 0.002 T 0.003 T CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000116969.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 2_88926730_CAG->- 2 88926730 88926732 CAG - indel 429.74 1/1 27 13 0 13 1.0 exonic rs144052332 EIF2AK3 AR nonframeshift deletion NM_004836 exon1 c.61_63del p.21_21del 0.796526 0.8472 0.6612 0.7712 Uncertain 2_88997878_C->T 2 88997878 88997878 C T snp 165.77 0/1 99 20 13 7 0.35 intronic rs908277 RPIA AR NM_144563 exon2 c.6785-123C>T 0.256789 0.3026 Uncertain 2_88999476_G->A 2 88999476 88999476 G A snp 2486.77 0/1 99 221 119 102 0.46 intronic rs1158603 RPIA AR NM_144563 exon3 c.8310-50G>A 0.46885 0.3581 0.511217 0.4237 0.3402 Uncertain 2_89161322_C->G 2 89161322 89161322 C G snp 2427.77 0/1 99 250 151 99 0.4 intergenic rs232223 MIR4436A AU 0.352436 0.3353 0.380325 Uncertain 2_89185774_G->A 2 89185774 89185774 G A snp 674.77 0/1 99 40 15 25 0.63 intergenic rs232191 MIR4436A AU 0.267173 0.4901 Uncertain 2_89196757_G->A 2 89196757 89196757 G A snp 1455.77 0/1 99 121 58 63 0.52 intergenic rs3843805 MIR4436A AU 0.332668 0.502 0.234492 Uncertain 2_89196906_A->C 2 89196906 89196906 A C snp 644.77 0/1 99 80 48 32 0.4 intergenic rs4588191 MIR4436A AU 0.332268 0.502 0.234575 0.2854 0.5452 Uncertain 2_89197190_C->T 2 89197190 89197190 C T snp 1958.77 0/1 99 134 54 80 0.6 intergenic rs55661410 MIR4436A AU 0.33107 0.503 0.235162 0.2787 0.5368 Uncertain 2_89292264_T->A 2 89292264 89292264 T A snp 2619.77 0/1 99 245 133 112 0.46 intergenic rs180705389 MIR4436A AU 0.00419329 0.0208 0.0014 0.0175 Uncertain 2_89512819_G->C 2 89512819 89512819 G C snp 575.77 0/1 99 66 28 38 0.58 intergenic rs139073521 MIR4436A AU 0.196885 0.2738 Uncertain 2_89512854_A->C 2 89512854 89512854 A C snp 279.77 0/1 99 123 93 30 0.24 intergenic rs77255451 MIR4436A AU 0.315695 0.3165 Uncertain 2_89513004_A->G 2 89513004 89513004 A G snp 2175.77 0/1 99 193 107 86 0.45 intergenic rs12619054 MIR4436A AU 0.229832 0.4365 0.122980 0.1470 0.4595 Uncertain 2_89533810_C->T 2 89533810 89533810 C T snp 220.77 0/1 99 27 17 10 0.37 intergenic rs75790510 MIR4436A AU 0.184505 0.3829 0.1264 0.3901 Uncertain 2_89544163_G->C 2 89544163 89544163 G C snp 688.77 0/1 99 61 36 25 0.41 intergenic rs56876886 MIR4436A AU 0.265775 0.4335 Uncertain 2_89544473_A->G 2 89544473 89544473 A G snp 1937.77 0/1 99 207 99 108 0.52 intergenic rs147079411 MIR4436A AU 0.277157 0.4335 0.088393 0.1609 0.4792 Uncertain 2_89544848_C->T 2 89544848 89544848 C T snp 68.77 0/1 97 44 33 11 0.25 intergenic rs115732594 MIR4436A AU 0.275559 0.4325 Uncertain 2_89924052_-->C 2 89924052 89924052 - C indel 2915.73 1/1 99 92 2 90 0.98 intergenic rs371919969 MIR4436A AU 0.316893 0.4514 0.4235 0.7027 Uncertain 2_89952955_T->G 2 89952955 89952955 T G snp 167.84 1/1 18 65 0 65 1.0 intergenic rs199490671 MIR4436A AU 0.18131 0.2302 0.043498 0.0023 0.0110 Uncertain 2_89986921_C->T 2 89986921 89986921 C T snp 724.77 1/1 63 36 0 36 1.0 intergenic rs424406 MIR4436A AU 0.2099 0.4551 Uncertain 2_89999076_T->C 2 89999076 89999076 T C snp 129.03 1/1 12 4 0 4 1.0 intergenic rs113541274 MIR4436A AU 0.961462 0.9921 Uncertain 2_89999348_G->C 2 89999348 89999348 G C snp 160.84 1/1 18 116 64 52 0.45 intergenic rs200259649 MIR4436A AU 0.036349 0.2041 0.3741 Uncertain 2_90008103_G->A 2 90008103 90008103 G A snp 1909.77 1/1 99 72 3 69 0.96 intergenic rs11685391 MIR4436A AU 0.252796 0.3214 0.1643 0.3096 Uncertain 2_90008173_T->C 2 90008173 90008173 T C snp 779.77 1/1 63 34 0 34 1.0 intergenic rs429681 MIR4436A AU 0.1055 0.2577 Uncertain 2_90008208_T->G 2 90008208 90008208 T G snp 255.77 0/1 43 25 12 13 0.52 intergenic rs138920656 MIR4436A AU 0.807708 0.8452 Uncertain 2_90024874_C->A 2 90024874 90024874 C A snp 602.77 1/1 45 22 0 22 1.0 intergenic rs56726814 MIR4436A AU 0.303315 0.4593 Uncertain 2_90025275_G->C 2 90025275 90025275 G C snp 2650.77 1/1 99 105 1 104 0.99 intergenic rs28550408 MIR4436A AU 0.346645 0.3879 0.2505 0.4254 Uncertain 2_90043509_C->T 2 90043509 90043509 C T snp 208.84 1/1 18 9 0 9 1.0 intergenic rs201839533 MIR4436A AU 0.879193 0.9484 Uncertain 2_90061120_G->A 2 90061120 90061120 G A snp 178.9 1/1 15 5 0 5 1.0 intergenic rs1559919 MIR4436A AU 0.280751 0.4653 Uncertain 2_90108416_G->A 2 90108416 90108416 G A snp 744.77 1/1 54 26 0 26 1.0 intergenic rs859744 MIR4436A AU 0.962859 0.999 Uncertain 2_90108778_G->T 2 90108778 90108778 G T snp 1152.77 1/1 84 36 0 36 1.0 intergenic rs859745 MIR4436A AU 0.680312 0.8601 0.620220 0.7441 0.8712 Uncertain 2_90249284_C->- 2 90249284 90249284 C - indel 2931.73 1/1 99 75 0 75 1.0 intergenic MIR4436A AU Uncertain 2_91766685_G->T 2 91766685 91766685 G T snp 1478.77 0/1 99 131 66 65 0.5 intergenic rs2258279 NONE UN 0.498203 0.498 Uncertain 2_91766686_A->G 2 91766686 91766686 A G snp 1469.77 0/1 99 128 65 63 0.49 intergenic rs2433882 NONE UN 0.498203 0.498 Uncertain 2_91766729_-->AG 2 91766729 91766729 - AG indel 1229.73 1/1 75 27 0 27 1.0 intergenic rs4005073 NONE UN Uncertain 2_91767199_A->C 2 91767199 91767199 A C snp 866.77 0/1 99 62 34 28 0.45 intergenic rs2558010 NONE UN Uncertain 2_91767507_T->A 2 91767507 91767507 T A snp 111.77 0/1 99 151 135 16 0.11 intergenic rs2580541 NONE UN Uncertain 2_91809227_A->G 2 91809227 91809227 A G snp 2103.77 0/1 99 191 93 98 0.51 intergenic rs2536993 NONE UN Uncertain 2_91809324_C->T 2 91809324 91809324 C T snp 1929.77 0/1 99 250 146 104 0.42 intergenic rs2536994 NONE UN Uncertain 2_91809385_C->G 2 91809385 91809385 C G snp 2032.77 0/1 99 250 140 110 0.44 intergenic rs2310687 NONE UN Uncertain 2_91809404_G->C 2 91809404 91809404 G C snp 2014.77 0/1 99 250 139 111 0.44 intergenic rs2215642 NONE UN Uncertain 2_91809454_G->A 2 91809454 91809454 G A snp 170.77 0/1 99 210 187 23 0.11 intergenic NONE UN Uncertain 2_91809455_G->A 2 91809455 91809455 G A snp 178.77 0/1 99 209 186 23 0.11 intergenic NONE UN Uncertain 2_91809456_T->G 2 91809456 91809456 T G snp 1975.77 0/1 99 209 114 95 0.45 intergenic rs2191971 NONE UN Uncertain 2_91809468_-->TAA 2 91809468 91809468 - TAA indel 4051.73 0/1 99 178 104 74 0.42 intergenic rs4005009 NONE UN Uncertain 2_91809470_G->A 2 91809470 91809470 G A snp 1641.77 0/1 99 174 105 69 0.4 intergenic rs2386154 NONE UN Uncertain 2_91809472_-->TGACTAACAA 2 91809472 91809472 - TGACTAACAA indel 7400.73 0/1 99 161 102 59 0.37 intergenic rs55833633 NONE UN Uncertain 2_91924935_C->T 2 91924935 91924935 C T snp 101.77 0/1 99 8 4 4 0.5 intergenic LOC654342 AU Uncertain 2_91924967_C->T 2 91924967 91924967 C T snp 190.77 0/1 99 50 40 10 0.2 intergenic LOC654342 AU Uncertain 2_91924972_G->A 2 91924972 91924972 G A snp 623.77 0/1 99 63 40 23 0.37 intergenic rs200581143 LOC654342 AU Uncertain 2_91925022_C->A 2 91925022 91925022 C A snp 1843.77 0/1 99 204 133 71 0.35 intergenic rs4004381 LOC654342 AU Uncertain 2_91925139_C->G 2 91925139 91925139 C G snp 1920.77 0/1 99 243 144 99 0.41 intergenic rs62143830 LOC654342 AU Uncertain 2_91925151_C->T 2 91925151 91925151 C T snp 4142.77 0/1 99 238 57 181 0.76 intergenic rs4386371 LOC654342 AU Uncertain 2_91925267_T->C 2 91925267 91925267 T C snp 172.77 0/1 99 21 8 13 0.62 intergenic rs4569522 LOC654342 AU Uncertain 2_91927088_G->A 2 91927088 91927088 G A snp 434.77 0/1 99 56 38 18 0.32 intergenic rs2659422 LOC654342 AU Uncertain 2_91927130_C->G 2 91927130 91927130 C G snp 764.77 0/1 99 98 63 35 0.36 intergenic rs144807459 LOC654342 AU Uncertain 2_91927131_C->G 2 91927131 91927131 C G snp 746.77 0/1 99 99 64 35 0.35 intergenic rs146510532 LOC654342 AU Uncertain 2_91927134_T->- 2 91927134 91927134 T - indel 1223.73 0/1 99 100 65 35 0.35 intergenic rs112119293 LOC654342 AU Uncertain 2_91927214_T->C 2 91927214 91927214 T C snp 560.77 0/1 99 133 90 43 0.32 intergenic rs62143840 LOC654342 AU Uncertain 2_91927230_C->T 2 91927230 91927230 C T snp 417.77 0/1 99 126 90 36 0.29 intergenic rs76228304 LOC654342 AU Uncertain 2_91927231_A->G 2 91927231 91927231 A G snp 422.77 0/1 99 126 90 36 0.29 intergenic rs79762105 LOC654342 AU Uncertain 2_91927392_C->T 2 91927392 91927392 C T snp 604.77 0/1 99 68 41 27 0.4 intergenic rs139109697 LOC654342 AU 0.0611022 0.2401 Uncertain 2_91933025_C->T 2 91933025 91933025 C T snp 348.77 0/1 99 132 104 28 0.21 intergenic rs2456612 LOC654342 AU Uncertain 2_91933179_C->T 2 91933179 91933179 C T snp 1064.77 0/1 99 236 176 60 0.25 intergenic LOC654342 AU Uncertain 2_91933207_T->C 2 91933207 91933207 T C snp 455.77 0/1 99 190 151 39 0.21 intergenic rs2456611 LOC654342 AU Uncertain 2_91933225_A->G 2 91933225 91933225 A G snp 1185.77 0/1 99 151 90 61 0.4 intergenic rs2456610 LOC654342 AU 0.00119808 0.003 Uncertain 2_91933260_G->A 2 91933260 91933260 G A snp 64.77 0/1 93 115 102 13 0.11 intergenic rs71422467 LOC654342 AU Uncertain 2_91935941_G->T 2 91935941 91935941 G T snp 148.77 0/1 99 38 31 7 0.18 intergenic rs189319418 LOC654342 AU 0.0613019 0.2411 Uncertain 2_91935951_C->G 2 91935951 91935951 C G snp 60.77 0/1 89 46 36 10 0.22 intergenic rs200085832 LOC654342 AU Uncertain 2_91935981_C->T 2 91935981 91935981 C T snp 191.77 0/1 99 83 61 22 0.27 intergenic rs2659398 LOC654342 AU Uncertain 2_91936054_T->C 2 91936054 91936054 T C snp 1291.77 0/1 99 232 170 62 0.27 intergenic rs2659396 LOC654342 AU Uncertain 2_91936121_A->G 2 91936121 91936121 A G snp 2923.77 0/1 99 250 132 118 0.47 intergenic rs75268796 LOC654342 AU Uncertain 2_91936138_G->A 2 91936138 91936138 G A snp 1294.77 0/1 99 250 186 64 0.26 intergenic rs74705314 LOC654342 AU Uncertain 2_91936147_G->A 2 91936147 91936147 G A snp 2960.77 0/1 99 249 127 122 0.49 intergenic rs78491020 LOC654342 AU Uncertain 2_91936239_A->G 2 91936239 91936239 A G snp 2272.77 0/1 99 137 60 77 0.56 intergenic rs113287833 LOC654342 AU Uncertain 2_91937662_A->G 2 91937662 91937662 A G snp 1851.77 0/1 99 161 79 82 0.51 intergenic rs2659395 LOC654342 AU Uncertain 2_91937699_C->T 2 91937699 91937699 C T snp 1945.77 0/1 99 183 94 89 0.49 intergenic rs2659394 LOC654342 AU Uncertain 2_91937727_T->C 2 91937727 91937727 T C snp 510.77 0/1 99 185 146 39 0.21 intergenic rs200836431 LOC654342 AU Uncertain 2_91937761_C->T 2 91937761 91937761 C T snp 1564.77 0/1 99 146 77 69 0.47 intergenic rs2659393 LOC654342 AU Uncertain 2_91937775_G->A 2 91937775 91937775 G A snp 1260.77 0/1 99 130 73 57 0.44 intergenic rs2659392 LOC654342 AU Uncertain 2_91940245_A->C 2 91940245 91940245 A C snp 32.77 0/1 61 125 103 22 0.18 intergenic rs2456608 LOC654342 AU Uncertain 2_91940250_T->C 2 91940250 91940250 T C snp 72.77 0/1 99 132 108 24 0.18 intergenic rs71422481 LOC654342 AU Uncertain 2_91940297_C->T 2 91940297 91940297 C T snp 609.77 0/1 99 174 127 47 0.27 intergenic rs62145906 LOC654342 AU Uncertain 2_91940306_G->A 2 91940306 91940306 G A snp 765.77 0/1 99 182 131 51 0.28 intergenic rs2456607 LOC654342 AU Uncertain 2_91944085_T->C 2 91944085 91944085 T C snp 39.77 0/1 68 83 70 13 0.16 intergenic rs10210041 LOC654342 AU 0.00958466 0.001 Uncertain 2_91944129_T->C 2 91944129 91944129 T C snp 651.77 0/1 99 122 77 45 0.37 intergenic rs80315793 LOC654342 AU 0.00499201 0.0119 Uncertain 2_91944151_C->T 2 91944151 91944151 C T snp 237.77 0/1 99 131 106 25 0.19 intergenic rs62142698 LOC654342 AU Uncertain 2_91944161_G->A 2 91944161 91944161 G A snp 940.77 0/1 99 140 79 61 0.44 intergenic rs62142699 LOC654342 AU Uncertain 2_91944312_T->C 2 91944312 91944312 T C snp 37.77 0/1 66 4 2 2 0.5 intergenic rs62142716 LOC654342 AU Uncertain 2_91954979_A->G 2 91954979 91954979 A G snp 521.77 0/1 99 35 18 17 0.49 intergenic rs2529793 LOC654342 AU Uncertain 2_91954996_T->C 2 91954996 91954996 T C snp 222.77 0/1 99 59 48 11 0.19 intergenic rs746695737 LOC654342 AU Uncertain 2_91955237_G->A 2 91955237 91955237 G A snp 598.77 0/1 99 179 144 35 0.2 intergenic rs200285319 LOC654342 AU 0.000399361 Uncertain 2_91955313_G->A 2 91955313 91955313 G A snp 1701.77 0/1 99 148 68 80 0.54 intergenic rs1890165 LOC654342 AU Uncertain 2_91955330_G->A 2 91955330 91955330 G A snp 336.77 0/1 99 151 124 27 0.18 intergenic rs201676986 LOC654342 AU 0.00139776 Uncertain 2_91955375_G->A 2 91955375 91955375 G A snp 1035.77 0/1 99 131 67 64 0.49 intergenic rs74324957 LOC654342 AU Uncertain 2_91955404_T->C 2 91955404 91955404 T C snp 868.77 0/1 99 116 64 52 0.45 intergenic rs2659346 LOC654342 AU Uncertain 2_91955474_G->A 2 91955474 91955474 G A snp 140.77 0/1 99 90 73 17 0.19 intergenic rs369215187 LOC654342 AU Uncertain 2_95537245_C->G 2 95537245 95537245 C G snp 1149.77 1/1 84 40 0 40 1.0 ncRNA_intronic LOC442028 AU 0.422125 0.4792 Uncertain 2_95537544_A->G 2 95537544 95537544 A G snp 195.77 0/1 99 85 69 16 0.19 exonic TEKT4 AU nonsynonymous SNV NM_144705 exon1 c.A220G p.T74A 4.485e-05 0 0.72 T 1 N -0.929 T 0.0 T 0.0 T Pathogenic 2_95537568_C->G 2 95537568 95537568 C G snp 162.77 0/1 99 105 86 19 0.18 exonic rs80243548 TEKT4 AU nonsynonymous SNV NM_144705 exon1 c.C244G p.R82G 0.0001 0 0.35 T 1.000 D -1.056 T 0.322 T 0.192 T Pathogenic 2_95537570_C->G 2 95537570 95537570 C G snp 168.77 0/1 99 103 84 19 0.18 exonic TEKT4 AU synonymous SNV NM_144705 exon1 c.C246G p.R82R 0.0001 0 Uncertain 2_95537572_C->T 2 95537572 95537572 C T snp 2529.77 0/1 99 106 20 86 0.81 exonic TEKT4 AU nonsynonymous SNV NM_144705 exon1 c.C248T p.T83M 0.389776 0.4831 0.354482 0.3476 0.5586 0.13 T 0.955 P -0.926 T 0.973 D 0.542 D Pathogenic 2_95537593_C->G 2 95537593 95537593 C G snp 156.77 0/1 99 116 96 20 0.17 exonic TEKT4 AU nonsynonymous SNV NM_144705 exon1 c.C269G p.T90R 1 T 1 N -0.953 T 0.0 T 0.001 T Pathogenic 2_95537594_A->G 2 95537594 95537594 A G snp 147.77 0/1 99 113 93 20 0.18 exonic TEKT4 AU synonymous SNV NM_144705 exon1 c.A270G p.T90T 1.057e-05 0 Uncertain 2_95537605_G->A 2 95537605 95537605 G A snp 154.77 0/1 99 128 107 21 0.16 exonic rs199695568 TEKT4 AU nonsynonymous SNV NM_144705 exon1 c.G281A p.R94Q 0.0003 0.0003 0 D 1 D -0.891 T 1.0 D 1.0 D Pathogenic 2_95537622_A->G 2 95537622 95537622 A G snp 3331.77 0/1 99 154 22 132 0.86 exonic TEKT4 AU nonsynonymous SNV NM_144705 exon1 c.A298G p.S100G 0.427516 0.4881 0.407899 0.4214 0.5668 0.32 T 0.0 P -1.036 T 0.0 T 0.0 T Pathogenic 2_95537633_G->A 2 95537633 95537633 G A snp 100.77 0/1 99 171 149 22 0.13 exonic TEKT4 AU synonymous SNV NM_144705 exon1 c.G309A p.S103S 0.0001 0 ID=COSM722901;OCCURENCE=1(lung) Uncertain 2_95537649_A->G 2 95537649 95537649 A G snp 77.77 0/1 99 182 160 22 0.12 exonic TEKT4 AU nonsynonymous SNV NM_144705 exon1 c.A325G p.M109V 0.0001 0 0.2 T 1 N -0.937 T 0.0 T 0.0 T Pathogenic 2_95537871_-->C 2 95537871 95537871 - C indel 256.25 0/1 9 24 2 22 0.92 ncRNA_intronic rs11483811 LOC442028 AU 0.0944 0.25 Uncertain 2_95541467_C->T 2 95541467 95541467 C T snp 69.77 0/1 98 159 126 33 0.21 exonic TEKT4 AU synonymous SNV NM_144705 exon5 c.C1071T p.C357C Uncertain 2_95541468_C->G 2 95541468 95541468 C G snp 75.77 0/1 99 154 123 31 0.2 exonic TEKT4 AU nonsynonymous SNV NM_144705 exon5 c.C1072G p.R358G 8.327e-06 0 0.01 T 1 D -1.135 T 1.0 D 1.0 D Pathogenic 2_95541470_T->C 2 95541470 95541470 T C snp 78.77 0/1 99 154 122 32 0.21 exonic TEKT4 AU synonymous SNV NM_144705 exon5 c.T1074C p.R358R Uncertain 2_95541471_G->A 2 95541471 95541471 G A snp 78.77 0/1 99 153 122 31 0.2 exonic rs201902069 TEKT4 AU nonsynonymous SNV NM_144705 exon5 c.G1075A p.D359N 0 D 1 D -0.632 T 1.0 D 0.998 D Pathogenic 2_95541473_C->T 2 95541473 95541473 C T snp 81.77 0/1 99 152 121 31 0.2 exonic TEKT4 AU synonymous SNV NM_144705 exon5 c.C1077T p.D359D 8.351e-06 0 Uncertain 2_95542112_C->T 2 95542112 95542112 C T snp 174.9 1/1 15 5 0 5 1.0 ncRNA_intronic LOC442028 AU 0.491214 0.5109 Uncertain 2_95542332_C->A 2 95542332 95542332 C A snp 770.77 0/1 99 249 190 59 0.24 exonic TEKT4 AU nonsynonymous SNV NM_144705 exon6 c.C1126A p.L376I 1 T 0.996 D -0.881 T 0.207 T 0.092 T Pathogenic 2_95542340_A->G 2 95542340 95542340 A G snp 895.77 0/1 99 250 179 71 0.28 exonic TEKT4 AU synonymous SNV NM_144705 exon6 c.A1134G p.A378A Uncertain 2_95542346_A->G 2 95542346 95542346 A G snp 961.77 0/1 99 250 175 75 0.3 exonic TEKT4 AU synonymous SNV NM_144705 exon6 c.A1140G p.R380R Uncertain 2_95542363_C->G 2 95542363 95542363 C G snp 1842.77 0/1 99 250 145 105 0.42 exonic TEKT4 AU nonsynonymous SNV NM_144705 exon6 c.C1157G p.A386G 0 D 1 D -1.109 T 0.986 D 0.919 D Pathogenic 2_95542376_G->T 2 95542376 95542376 G T snp 1920.77 0/1 99 250 146 104 0.42 exonic TEKT4 AU synonymous SNV NM_144705 exon6 c.G1170T p.L390L Uncertain 2_95542377_C->T 2 95542377 95542377 C T snp 2043.77 0/1 99 250 142 108 0.43 exonic TEKT4 AU nonsynonymous SNV NM_144705 exon6 c.C1171T p.R391C 0.0020 0.0058 0.05 T 1 D -0.957 T 0.048 T 0.017 T Pathogenic 2_95542415_C->T 2 95542415 95542415 C T snp 479.77 0/1 99 248 210 38 0.15 exonic TEKT4 AU synonymous SNV NM_144705 exon6 c.C1209T p.D403D Uncertain 2_95542416_A->G 2 95542416 95542416 A G snp 1661.77 0/1 99 249 154 95 0.38 exonic TEKT4 AU nonsynonymous SNV NM_144705 exon6 c.A1210G p.I404V 0.05 T 1 D -1.154 T 0.967 D 0.77 D Pathogenic 2_95542419_G->A 2 95542419 95542419 G A snp 1636.77 0/1 99 249 148 101 0.41 exonic TEKT4 AU nonsynonymous SNV NM_144705 exon6 c.G1213A p.A405T 0.0115815 0.0179 0.0037 0.0156 0.49 T 0.984 N -0.940 T 0.003 T 0.013 T Pathogenic 2_95542476_C->T 2 95542476 95542476 C T snp 450.77 0/1 99 250 203 47 0.19 exonic TEKT4 AU nonsynonymous SNV NM_144705 exon6 c.C1270T p.R424C 0.000199681 0.0026 0.0029 0.13 T 1 D -0.879 T 0.572 P 0.148 P Pathogenic 2_95830652_T->C 2 95830652 95830652 T C snp 252.77 0/1 99 22 11 11 0.5 upstream rs6719142 ZNF2 AU 0.497005 0.504 Uncertain 2_95830737_-->A 2 95830737 95830737 - A indel 899.73 0/1 99 57 25 32 0.56 upstream rs11395151 ZNF2 AU 0.778754 0.6766 0.7322 0.6786 Uncertain 2_95847041_GCG->- 2 95847041 95847043 GCG - indel 7881.73 1/1 99 157 0 157 1.0 exonic rs10578519 ZNF2 AU nonframeshift deletion NM_001291604 exon3 c.228_230del p.76_77del 0.997005 1 0.990877 0.9918 1 Uncertain 2_95941701_C->T 2 95941701 95941701 C T snp 1446.77 0/1 99 132 63 69 0.52 exonic rs185963647 PROM2 AU synonymous SNV NM_001165977 exon3 c.C318T p.Y106Y 0.00219649 0.0079 0.0018 0.0226 Uncertain 2_95944902_-->C 2 95944902 95944902 - C indel 490.73 1/1 39 16 0 16 1.0 intronic rs397789751 PROM2 AU NM_001165977 exon10 c.4559+10insC 1 1 0.999394 0.9996 1 Uncertain 2_95945568_G->A 2 95945568 95945568 G A snp 744.77 0/1 99 70 39 31 0.44 intronic rs7585914 PROM2 AU NM_001165977 exon11 c.5259-24G>A 0.786142 0.6687 0.785791 0.7752 0.6483 Uncertain 2_95945830_G->T 2 95945830 95945830 G T snp 74.77 0/1 99 11 7 4 0.36 intronic rs7586229 PROM2 AU NM_001165977 exon11 c.5412+85G>T 0.786542 0.6687 Uncertain 2_95947085_A->G 2 95947085 95947085 A G snp 1985.77 0/1 99 162 79 83 0.51 exonic rs12992066 PROM2 AU nonsynonymous SNV NM_001165977 exon12 c.A1523G p.Q508R 0.79972 0.6885 0.797401 0.7749 0.6647 0.75 T 0.0 P -0.984 T 0.0 T 0.0 T Pathogenic 2_95952177_C->G 2 95952177 95952177 C G snp 1236.77 1/1 87 47 0 47 1.0 intronic rs7602232 PROM2 AU NM_001165977 exon17 c.11893-49C>G 0.991214 1 0.977241 0.9790 0.9997 Uncertain 2_95952203_G->C 2 95952203 95952203 G C snp 517.77 0/1 99 45 22 23 0.51 intronic rs117646334 PROM2 AU NM_001165977 exon17 c.11893-23G>C 0.014377 0.0685 0.000308 0.0073 0.0751 Uncertain 2_95963242_C->G 2 95963242 95963242 C G snp 420.77 0/1 99 44 23 21 0.48 intronic rs2248415 KCNIP3 AU NM_013434 exon1 c.15+41C>G 0.739417 0.5933 0.6129 0.4326 Uncertain 2_96012907_C->G 2 96012907 96012907 C G snp 2023.77 0/1 99 153 65 88 0.58 intronic rs7602807 KCNIP3 AU NM_001034914 exon1 c.103+37C>G 0.740216 0.5933 0.792891 0.7529 0.6009 Uncertain 2_96048862_C->T 2 96048862 96048862 C T snp 281.77 0/1 94 13 3 10 0.77 intronic rs58372613 KCNIP3 AU NM_013434 exon8 c.85793-117C>T 0.453674 0.4881 Uncertain 2_96076409_C->T 2 96076409 96076409 C T snp 985.77 1/1 72 32 0 32 1.0 intronic rs6577014 FAHD2A AU NM_016044 exon4 c.5028+75C>T 0.995208 1 Uncertain 2_96458039_T->G 2 96458039 96458039 T G snp 64.77 0/1 93 86 55 31 0.36 intergenic rs200895535 TRIM43 AU 0.0593051 0.0992 Uncertain 2_96504594_C->T 2 96504594 96504594 C T snp 1573.77 0/1 99 222 143 79 0.36 intergenic rs11676926 LINC00342 AU 0.271965 0.4593 Uncertain 2_96521512_A->C 2 96521512 96521512 A C snp 337.77 0/1 99 67 50 17 0.25 intergenic rs78536198 LINC00342 AU 0.45 T 0.763 D -0.948 T Uncertain 2_96521548_G->A 2 96521548 96521548 G A snp 292.77 0/1 99 134 108 26 0.19 intergenic rs112058478 LINC00342 AU Uncertain 2_96521556_T->C 2 96521556 96521556 T C snp 287.77 0/1 99 144 119 25 0.17 intergenic rs77601294 LINC00342 AU 0.17 T 0.996 N -0.993 T Uncertain 2_96521563_G->A 2 96521563 96521563 G A snp 43.77 0/1 72 156 136 20 0.13 intergenic rs75218243 LINC00342 AU Uncertain 2_96521607_G->C 2 96521607 96521607 G C snp 206.77 0/1 99 221 192 29 0.13 intergenic rs77216432 LINC00342 AU 0.27 T 0.799 N -1.067 T Uncertain 2_96521608_G->A 2 96521608 96521608 G A snp 192.77 0/1 99 222 192 30 0.14 intergenic rs79873536 LINC00342 AU Uncertain 2_96521609_T->C 2 96521609 96521609 T C snp 206.77 0/1 99 224 195 29 0.13 intergenic rs77089740 LINC00342 AU 0.07 T 1.000 N -1.038 T Uncertain 2_96521726_G->A 2 96521726 96521726 G A snp 1274.77 0/1 99 122 68 54 0.44 intergenic rs74328999 LINC00342 AU 0.0916534 0.1677 0.0661 0.1581 0.05 T 0.0 P -1.074 T Uncertain 2_96525643_T->C 2 96525643 96525643 T C snp 44.77 0/1 73 59 54 5 0.08 intergenic rs75198192 LINC00342 AU 0.4444 0.4517 0.27 T 1.000 N -0.992 T 0.0 T 0.0 T Uncertain 2_96525652_T->C 2 96525652 96525652 T C snp 75.77 0/1 99 70 64 6 0.09 intergenic rs77710257 LINC00342 AU 0.5004 0.5 1 T 1.000 N -0.936 T 0.003 T 0.006 T Uncertain 2_96525718_G->T 2 96525718 96525718 G T snp 75.77 0/1 99 123 111 12 0.1 intergenic rs77057279 LINC00342 AU 0.4545 0.4840 0.72 T 0.994 N -0.981 T 0.053 T 0.021 T Uncertain 2_96525723_C->T 2 96525723 96525723 C T snp 78.77 0/1 99 121 109 12 0.1 intergenic rs77757712 LINC00342 AU 0.4301 0.4733 0.93 T 1.000 N -0.947 T 0.055 T 0.007 T Uncertain 2_96525736_T->C 2 96525736 96525736 T C snp 78.77 0/1 99 120 107 13 0.11 intergenic rs78585559 LINC00342 AU 0.3985 0.4624 0.33 T 0.0 P -1.040 T 0.618 T 0.296 P Uncertain 2_96525755_A->T 2 96525755 96525755 A T snp 81.77 0/1 99 109 95 14 0.13 intergenic rs77658288 LINC00342 AU 0.3716 0.4468 0.73 T 0.0 P -1.031 T 0.886 T 0.685 P Uncertain 2_96525768_G->A 2 96525768 96525768 G A snp 87.77 0/1 99 100 89 11 0.11 intergenic rs78780931 LINC00342 AU 0.3429 0.4212 0.82 T 0.000 P -0.937 T 0.0 T 0.0 T Uncertain 2_96525771_A->C 2 96525771 96525771 A C snp 96.77 0/1 99 97 86 11 0.11 intergenic rs74941794 LINC00342 AU 0.3459 0.4239 0.59 T 1.000 P Uncertain 2_96525782_T->C 2 96525782 96525782 T C snp 117.77 0/1 99 82 71 11 0.13 intergenic rs75657861 LINC00342 AU 0.00239617 0.3123 0.4030 Uncertain 2_96525794_C->A 2 96525794 96525794 C A snp 128.77 0/1 99 71 63 8 0.11 intergenic rs79908880 LINC00342 AU 0.2995 0.3993 0.64 T 0.0 P -0.964 T 0.0 T 0.0 T Uncertain 2_96555522_C->A 2 96555522 96555522 C A snp 1272.77 0/1 99 128 71 57 0.45 intergenic rs12471925 LINC00342 AU 0.280152 0.4673 0.3040 0.4527 Uncertain 2_96601109_C->T 2 96601109 96601109 C T snp 86.77 0/1 99 18 8 10 0.56 intergenic rs112036065 LINC00342 AU 0.278954 0.4613 Uncertain 2_96601123_G->A 2 96601123 96601123 G A snp 195.77 0/1 99 42 19 23 0.55 intergenic rs73958150 LINC00342 AU Uncertain 2_96601137_G->A 2 96601137 96601137 G A snp 252.77 0/1 99 81 36 45 0.56 intergenic rs75682170 LINC00342 AU Uncertain 2_96601139_T->C 2 96601139 96601139 T C snp 79.77 0/1 99 89 55 34 0.38 intergenic LINC00342 AU Uncertain 2_96601153_G->A 2 96601153 96601153 G A snp 637.77 0/1 99 124 47 77 0.62 intergenic rs202028585 LINC00342 AU 0.1797 0.0593 Uncertain 2_96601236_G->A 2 96601236 96601236 G A snp 275.77 0/1 99 249 221 28 0.11 intergenic rs760504696 LINC00342 AU 0.0103 0.0034 Uncertain 2_96601240_G->A 2 96601240 96601240 G A snp 3065.77 0/1 99 250 74 176 0.7 intergenic rs62153752 LINC00342 AU 0.4793 0.4552 0.86 T 1 N -1.005 T Uncertain 2_96601296_-->TGATTAAT 2 96601296 96601296 - TGATTAAT indel 15031.7 0/1 99 230 62 168 0.73 intergenic rs145876416 LINC00342 AU 0.2460 0.2721 Uncertain 2_96601312_G->A 2 96601312 96601312 G A snp 1854.77 0/1 99 235 136 99 0.42 intergenic rs62153753 LINC00342 AU 0.4317 0.4490 Uncertain 2_96601345_T->C 2 96601345 96601345 T C snp 2567.77 0/1 99 177 56 121 0.68 intergenic rs74453630 LINC00342 AU 0.4779 0.4571 Uncertain 2_96601364_C->T 2 96601364 96601364 C T snp 2110.77 0/1 99 135 44 91 0.67 intergenic rs62153754 LINC00342 AU 0.4945 0.5 Uncertain 2_96604420_A->T 2 96604420 96604420 A T snp 505.77 0/1 73 18 3 15 0.83 intergenic rs74931694 LINC00342 AU Uncertain 2_96604446_C->T 2 96604446 96604446 C T snp 36.77 0/1 65 62 56 6 0.1 intergenic rs560119147 LINC00342 AU 0.000399361 0.002 Uncertain 2_96604452_C->A 2 96604452 96604452 C A snp 280.77 0/1 99 77 64 13 0.17 intergenic rs371118313 LINC00342 AU Uncertain 2_96604473_T->A 2 96604473 96604473 T A snp 802.77 0/1 99 144 112 32 0.22 intergenic rs75003856 LINC00342 AU Uncertain 2_96604516_C->T 2 96604516 96604516 C T snp 5169.77 0/1 99 250 36 214 0.86 intergenic rs62154560 LINC00342 AU Uncertain 2_96604591_A->G 2 96604591 96604591 A G snp 5602.77 0/1 99 250 40 210 0.84 intergenic rs62154561 LINC00342 AU 0.5015 0.5055 0.15 T 1.000 N -0.863 T Uncertain 2_96604632_A->T 2 96604632 96604632 A T snp 4914.77 0/1 99 239 46 193 0.81 intergenic rs62154562 LINC00342 AU 0.4992 0.5 0.06 T 1 N -1.024 T Uncertain 2_96604679_C->T 2 96604679 96604679 C T snp 3173.77 0/1 99 197 42 155 0.79 intergenic rs62154563 LINC00342 AU 0.000199681 0.4996 0.5 Uncertain 2_96604730_T->C 2 96604730 96604730 T C snp 1652.77 0/1 99 90 22 68 0.76 intergenic rs113311459 LINC00342 AU 0.4997 0.5 Uncertain 2_96604767_C->A 2 96604767 96604767 C A snp 39.77 0/1 68 10 7 3 0.3 intergenic rs200143756 LINC00342 AU 0.3606 0.4016 Uncertain 2_96604771_G->A 2 96604771 96604771 G A snp 68.77 0/1 97 7 3 4 0.57 intergenic rs201267012 LINC00342 AU 0.4857 0.4966 Uncertain 2_96604785_T->A 2 96604785 96604785 T A snp 34.77 0/1 31 3 1 2 0.67 intergenic rs201789317 LINC00342 AU 0.4767 0.4832 Uncertain 2_96606852_A->T 2 96606852 96606852 A T snp 38.77 0/1 33 4 1 3 0.75 intergenic rs201301417 LINC00342 AU Uncertain 2_96606944_C->T 2 96606944 96606944 C T snp 177.77 0/1 99 23 12 11 0.48 intergenic rs78739183 LINC00342 AU 0.4920 0.4939 0.53 T 1.000 N -0.967 T Uncertain 2_96606985_T->C 2 96606985 96606985 T C snp 168.77 0/1 99 29 19 10 0.34 intergenic rs79451673 LINC00342 AU 0.4593 0.4803 Uncertain 2_96606998_C->T 2 96606998 96606998 C T snp 171.77 0/1 99 24 15 9 0.38 intergenic rs201633069 LINC00342 AU Uncertain 2_96607003_G->A 2 96607003 96607003 G A snp 135.77 0/1 99 22 12 10 0.45 intergenic rs774657303 LINC00342 AU Uncertain 2_96607028_T->C 2 96607028 96607028 T C snp 171.77 0/1 99 19 12 7 0.37 intergenic rs142163060 LINC00342 AU Uncertain 2_96607048_G->A 2 96607048 96607048 G A snp 144.77 0/1 99 17 9 8 0.47 intergenic rs72933842 LINC00342 AU Uncertain 2_96610289_A->G 2 96610289 96610289 A G snp 95.77 0/1 99 57 36 21 0.37 intergenic LINC00342 AU Uncertain 2_96610329_G->C 2 96610329 96610329 G C snp 1042.77 0/1 99 165 78 87 0.53 intergenic rs201777230 LINC00342 AU 0.1651 0.3106 Uncertain 2_96610395_-->A 2 96610395 96610395 - A indel 2079.73 0/1 99 201 119 82 0.41 intergenic rs147285461 LINC00342 AU 0.2658 0.3262 Uncertain 2_96610399_C->A 2 96610399 96610399 C A snp 1637.77 0/1 99 250 120 130 0.52 intergenic rs116594293 LINC00342 AU 0.2619 0.3223 0.04 T 1 N -1.003 T Uncertain 2_96610410_T->A 2 96610410 96610410 T A snp 1599.77 0/1 99 248 120 128 0.52 intergenic rs77220524 LINC00342 AU 0.1902 0.3136 0.09 T 1 N -1.002 T Uncertain 2_96610413_C->T 2 96610413 96610413 C T snp 1599.77 0/1 99 247 119 128 0.52 intergenic rs74491979 LINC00342 AU 0.1861 0.3118 0.32 T 1 N -0.990 T Uncertain 2_96610420_G->T 2 96610420 96610420 G T snp 1610.77 0/1 99 244 117 127 0.52 intergenic rs78473403 LINC00342 AU 0.1797 0.3077 1 T 1 N -0.979 T Uncertain 2_96610455_C->A 2 96610455 96610455 C A snp 545.77 0/1 99 201 151 50 0.25 intergenic rs745979869 LINC00342 AU 0.1136 0.1967 Uncertain 2_96610479_A->G 2 96610479 96610479 A G snp 807.77 0/1 99 145 74 71 0.49 intergenic rs200773992 LINC00342 AU 0.2202 0.3145 Uncertain 2_96610495_G->A 2 96610495 96610495 G A snp 318.77 0/1 99 95 58 37 0.39 intergenic rs144198449 LINC00342 AU Uncertain 2_96610759_T->A 2 96610759 96610759 T A snp 303.77 0/1 99 31 12 19 0.61 intergenic rs377016561 LINC00342 AU Uncertain 2_96610768_T->G 2 96610768 96610768 T G snp 434.77 0/1 99 43 18 25 0.58 intergenic rs376183764 LINC00342 AU Uncertain 2_96610787_-->A 2 96610787 96610787 - A indel 1190.73 0/1 99 75 31 44 0.59 intergenic rs112708872 LINC00342 AU Uncertain 2_96610836_T->C 2 96610836 96610836 T C snp 5085.77 0/1 99 248 66 182 0.73 intergenic rs11893977 LINC00342 AU 0.5 0.5 Uncertain 2_96610899_T->C 2 96610899 96610899 T C snp 5544.77 0/1 99 250 58 192 0.77 intergenic rs62154593 LINC00342 AU 0.5016 0.5080 Uncertain 2_96610921_T->G 2 96610921 96610921 T G snp 5533.77 0/1 99 248 58 190 0.77 intergenic rs62154594 LINC00342 AU 0.5027 0.5107 1 T 1 N -0.995 T Uncertain 2_96610923_C->G 2 96610923 96610923 C G snp 471.77 0/1 99 250 216 34 0.14 intergenic rs75080810 LINC00342 AU 0.3050 0.2931 0.998 N Uncertain 2_96610952_T->C 2 96610952 96610952 T C snp 5734.77 0/1 99 236 51 185 0.78 intergenic rs62154595 LINC00342 AU 0.5032 0.5027 Uncertain 2_96610958_G->T 2 96610958 96610958 G T snp 825.77 0/1 99 231 188 43 0.19 intergenic rs79852024 LINC00342 AU 0.2270 0.2355 Uncertain 2_96611018_G->A 2 96611018 96611018 G A snp 4214.77 0/1 99 173 42 131 0.76 intergenic rs62154596 LINC00342 AU Uncertain 2_96611078_T->G 2 96611078 96611078 T G snp 405.77 0/1 99 16 4 12 0.75 intergenic rs62154597 LINC00342 AU Uncertain 2_96614212_A->G 2 96614212 96614212 A G snp 226.77 0/1 97 14 3 11 0.79 intergenic rs4907288 LINC00342 AU 0.294329 0.4613 Uncertain 2_96616310_C->T 2 96616310 96616310 C T snp 191.77 0/1 99 29 19 10 0.34 intergenic rs139114553 LINC00342 AU Uncertain 2_96616313_-->TT 2 96616313 96616313 - TT indel 992.73 0/1 99 26 6 20 0.77 intergenic rs72545168 LINC00342 AU Uncertain 2_96616320_A->G 2 96616320 96616320 A G snp 142.77 0/1 99 42 33 9 0.21 intergenic rs4110270 LINC00342 AU Uncertain 2_96616348_C->G 2 96616348 96616348 C G snp 1568.77 0/1 99 78 18 60 0.77 intergenic rs62154609 LINC00342 AU Uncertain 2_96616354_T->- 2 96616354 96616354 T - indel 951.73 0/1 99 76 28 48 0.63 intergenic rs150793442 LINC00342 AU Uncertain 2_96616355_T->C 2 96616355 96616355 T C snp 740.77 0/1 99 91 59 32 0.35 intergenic rs62154610 LINC00342 AU Uncertain 2_96616378_C->T 2 96616378 96616378 C T snp 2955.77 0/1 99 172 45 127 0.74 intergenic rs62154611 LINC00342 AU Uncertain 2_96616442_C->A 2 96616442 96616442 C A snp 3507.77 0/1 99 250 65 185 0.74 intergenic rs74960926 LINC00342 AU 0.000998403 0.005 Uncertain 2_96616448_G->T 2 96616448 96616448 G T snp 3426.77 0/1 99 250 65 185 0.74 intergenic rs76503749 LINC00342 AU 0.000998403 0.005 0.2074 0.3354 Uncertain 2_96616485_C->G 2 96616485 96616485 C G snp 3351.77 0/1 99 245 73 172 0.7 intergenic rs78218362 LINC00342 AU 0.1479 0.3025 Uncertain 2_96616504_C->A 2 96616504 96616504 C A snp 2973.77 0/1 99 224 80 144 0.64 intergenic rs78179792 LINC00342 AU 0.47 T 1 N -0.978 T Uncertain 2_96616506_G->C 2 96616506 96616506 G C snp 2961.77 0/1 99 223 80 143 0.64 intergenic rs79025720 LINC00342 AU 0.37 T 1 N -0.963 T Uncertain 2_96616507_C->A 2 96616507 96616507 C A snp 2881.77 0/1 99 223 79 144 0.65 intergenic rs79603357 LINC00342 AU 0.71 T 1 N -0.951 T Uncertain 2_96616532_T->G 2 96616532 96616532 T G snp 2272.77 0/1 99 169 62 107 0.63 intergenic rs112676430 LINC00342 AU 0.1932 0.2674 Uncertain 2_96616571_C->A 2 96616571 96616571 C A snp 677.77 0/1 99 85 46 39 0.46 intergenic rs146478446 LINC00342 AU 0.0857 0.1448 Uncertain 2_96616576_T->C 2 96616576 96616576 T C snp 682.77 0/1 99 82 44 38 0.46 intergenic rs143490798 LINC00342 AU 0.0866 0.1511 Uncertain 2_96616580_A->G 2 96616580 96616580 A G snp 527.77 0/1 99 74 43 31 0.42 intergenic rs201649771 LINC00342 AU Uncertain 2_96616597_A->G 2 96616597 96616597 A G snp 271.77 0/1 99 51 33 18 0.35 intergenic rs114583836 LINC00342 AU Uncertain 2_96616599_G->A 2 96616599 96616599 G A snp 275.77 0/1 99 48 31 17 0.35 intergenic rs116630524 LINC00342 AU Uncertain 2_96616607_G->T 2 96616607 96616607 G T snp 230.77 0/1 99 44 28 16 0.36 intergenic rs141967446 LINC00342 AU Uncertain 2_96616622_C->T 2 96616622 96616622 C T snp 33.77 0/1 62 35 27 8 0.23 intergenic rs112338915 LINC00342 AU Uncertain 2_96616947_G->A 2 96616947 96616947 G A snp 86.77 0/1 99 15 11 4 0.27 intergenic rs74369410 LINC00342 AU Uncertain 2_96616951_A->G 2 96616951 96616951 A G snp 89.77 0/1 99 15 11 4 0.27 intergenic rs74904196 LINC00342 AU Uncertain 2_96616957_A->G 2 96616957 96616957 A G snp 124.77 0/1 99 17 11 6 0.35 intergenic rs76255864 LINC00342 AU Uncertain 2_96616967_G->C 2 96616967 96616967 G C snp 169.77 0/1 99 19 11 8 0.42 intergenic rs77784489 LINC00342 AU Uncertain 2_96616976_A->G 2 96616976 96616976 A G snp 169.77 0/1 99 23 13 10 0.43 intergenic rs76077075 LINC00342 AU Uncertain 2_96616979_G->C 2 96616979 96616979 G C snp 193.77 0/1 99 23 13 10 0.43 intergenic rs80105408 LINC00342 AU Uncertain 2_96616997_T->G 2 96616997 96616997 T G snp 436.77 0/1 99 42 18 24 0.57 intergenic rs74701498 LINC00342 AU Uncertain 2_96617023_C->A 2 96617023 96617023 C A snp 895.77 0/1 99 59 20 39 0.66 intergenic rs78346055 LINC00342 AU Uncertain 2_96617025_C->A 2 96617025 96617025 C A snp 1017.77 0/1 99 62 19 43 0.69 intergenic rs72492186 LINC00342 AU Uncertain 2_96617039_A->C 2 96617039 96617039 A C snp 1072.77 0/1 99 111 63 48 0.43 intergenic rs74263747 LINC00342 AU Uncertain 2_96617069_A->G 2 96617069 96617069 A G snp 2617.77 0/1 99 200 89 111 0.56 intergenic rs72935831 LINC00342 AU 0.4485 0.4344 Uncertain 2_96617090_A->G 2 96617090 96617090 A G snp 2733.77 0/1 99 237 114 123 0.52 intergenic rs72935833 LINC00342 AU 0.4229 0.4167 Uncertain 2_96617106_A->C 2 96617106 96617106 A C snp 2678.77 0/1 99 245 125 120 0.49 intergenic rs76943414 LINC00342 AU 0.3981 0.4251 Uncertain 2_96617111_G->A 2 96617111 96617111 G A snp 2766.77 0/1 99 246 125 121 0.49 intergenic rs76474100 LINC00342 AU 0.000399361 0.3840 0.4162 1 T 1.0 P Uncertain 2_96617113_G->A 2 96617113 96617113 G A snp 2862.77 0/1 99 248 125 123 0.5 intergenic rs80297803 LINC00342 AU 0.3792 0.4162 0.3 T 0.0 P -0.996 T Uncertain 2_96617125_T->C 2 96617125 96617125 T C snp 2466.77 0/1 99 250 132 118 0.47 intergenic rs75585230 LINC00342 AU 0.4204 0.4488 0.07 T 0.0 P -1.025 T Uncertain 2_96617132_T->C 2 96617132 96617132 T C snp 2451.77 0/1 99 249 132 117 0.47 intergenic rs75695780 LINC00342 AU 0.4227 0.4488 0.95 T 1 N -0.965 T Uncertain 2_96617155_A->G 2 96617155 96617155 A G snp 2489.77 0/1 99 250 130 120 0.48 intergenic rs76752473 LINC00342 AU 0.4710 0.4778 0.74 T 1 N -0.975 T Uncertain 2_96617182_A->C 2 96617182 96617182 A C snp 162.77 0/1 99 238 213 25 0.11 intergenic rs113501309 LINC00342 AU 0.0039 0.0060 Uncertain 2_96617194_A->G 2 96617194 96617194 A G snp 1950.77 0/1 99 206 119 87 0.42 intergenic rs75924615 LINC00342 AU 0.4393 0.4901 Uncertain 2_96617209_G->T 2 96617209 96617209 G T snp 1603.77 0/1 99 154 90 64 0.42 intergenic rs74343816 LINC00342 AU Uncertain 2_96617228_T->A 2 96617228 96617228 T A snp 649.77 0/1 99 110 80 30 0.27 intergenic rs78924901 LINC00342 AU Uncertain 2_96617231_G->A 2 96617231 96617231 G A snp 1195.77 0/1 99 100 51 49 0.49 intergenic rs2443879 LINC00342 AU Uncertain 2_96617256_A->G 2 96617256 96617256 A G snp 795.77 0/1 99 60 31 29 0.48 intergenic rs2438948 LINC00342 AU Uncertain 2_96617262_A->G 2 96617262 96617262 A G snp 655.77 0/1 99 54 30 24 0.44 intergenic rs199817817 LINC00342 AU Uncertain 2_96617304_A->T 2 96617304 96617304 A T snp 92.77 0/1 99 15 10 5 0.33 intergenic rs79484660 LINC00342 AU Uncertain 2_96617323_G->C 2 96617323 96617323 G C snp 65.77 0/1 94 7 4 3 0.43 intergenic rs78078957 LINC00342 AU Uncertain 2_96617324_G->A 2 96617324 96617324 G A snp 65.77 0/1 94 7 4 3 0.43 intergenic rs77840453 LINC00342 AU Uncertain 2_96619612_C->T 2 96619612 96619612 C T snp 217.77 0/1 99 38 21 17 0.45 intergenic rs143611798 LINC00342 AU Uncertain 2_96619641_A->C 2 96619641 96619641 A C snp 642.77 0/1 99 81 37 44 0.54 intergenic rs200910276 LINC00342 AU 0.4757 0.4816 Uncertain 2_96619642_A->T 2 96619642 96619642 A T snp 634.77 0/1 99 85 41 44 0.52 intergenic rs201891130 LINC00342 AU 0.4756 0.4816 Uncertain 2_96619687_C->T 2 96619687 96619687 C T snp 85.77 0/1 99 249 227 22 0.09 intergenic rs199947548 LINC00342 AU 0.0708 0.1181 Uncertain 2_96619688_T->G 2 96619688 96619688 T G snp 3969.77 0/1 99 249 68 181 0.73 intergenic rs74946480 LINC00342 AU 0.4973 0.5 0.53 T 1 N -0.973 T Uncertain 2_96619734_C->T 2 96619734 96619734 C T snp 4520.77 0/1 99 250 45 205 0.82 intergenic rs62154618 LINC00342 AU 0.5002 0.5 0.16 T 1 N -1.057 T Uncertain 2_96619735_A->G 2 96619735 96619735 A G snp 1054.77 0/1 99 249 187 62 0.25 intergenic rs200095242 LINC00342 AU 0.2518 0.2233 Uncertain 2_96619774_G->A 2 96619774 96619774 G A snp 4635.77 0/1 99 243 35 208 0.86 intergenic rs77522461 LINC00342 AU 0.4772 0.5 Uncertain 2_96619799_A->C 2 96619799 96619799 A C snp 4317.77 0/1 99 225 33 192 0.85 intergenic rs145806545 LINC00342 AU 0.4991 0.5 Uncertain 2_96619804_A->G 2 96619804 96619804 A G snp 280.77 0/1 99 220 190 30 0.14 intergenic rs778955796 LINC00342 AU Uncertain 2_96619831_T->C 2 96619831 96619831 T C snp 1881.77 0/1 99 146 70 76 0.52 intergenic rs76870447 LINC00342 AU Uncertain 2_96619832_A->G 2 96619832 96619832 A G snp 2292.77 ./1 99 132 22 110 0.83 intergenic rs79037822 LINC00342 AU Uncertain 2_96619832_A->T 2 96619832 96619832 A T snp 2292.77 ./1 99 132 22 110 0.83 intergenic LINC00342 AU Uncertain 2_96619837_C->G 2 96619837 96619837 C G snp 2646.77 0/1 99 118 20 98 0.83 intergenic rs77007933 LINC00342 AU Uncertain 2_96619838_A->C 2 96619838 96619838 A C snp 2553.77 0/1 99 116 20 96 0.83 intergenic rs79612785 LINC00342 AU Uncertain 2_96619853_T->C 2 96619853 96619853 T C snp 923.77 0/1 99 94 60 34 0.36 intergenic rs201388512 LINC00342 AU Uncertain 2_96619873_C->A 2 96619873 96619873 C A snp 436.77 0/1 99 59 41 18 0.31 intergenic rs111807008 LINC00342 AU Uncertain 2_96619896_A->G 2 96619896 96619896 A G snp 95.77 0/1 99 17 12 5 0.29 intergenic rs78145567 LINC00342 AU Uncertain 2_96687427_TG->- 2 96687427 96687428 TG - indel 195.73 0/1 99 11 5 6 0.55 ncRNA_intronic rs200675258 FAHD2CP AU Uncertain 2_96687429_C->G 2 96687429 96687429 C G snp 198.77 0/1 47 11 4 7 0.64 ncRNA_intronic rs199741104 FAHD2CP AU Uncertain 2_96698126_T->C 2 96698126 96698126 T C snp 372.77 0/1 99 71 35 36 0.51 UTR5 rs200882167 GPAT2 AU 0.233427 0.3442 0.0024 0.0082 Uncertain 2_96780716_T->G 2 96780716 96780716 T G snp 3204.83 0/1 99 249 121 128 0.51 exonic rs2229169 ADRA2B AD synonymous SNV NM_000682 exon1 c.A1173C p.G391G 0.705272 0.5962 0.704696 0.6785 0.5587 Uncertain 2_96780986_-->TCCTCCTCT 2 96780986 96780986 - TCCTCCTCT indel 8488.73 0/1 99 204 102 102 0.5 exonic rs28365031 ADRA2B AD nonframeshift insertion NM_000682 exon1 c.902_903insAGAGGAGGA p.E301delinsEEEE 0.470647 0.4067 0.706542 0.6982 0.5896 ID=COSM1023812,COSM1023814;OCCURENCE=3(large_intestine),1(breast),2(endometrium) Uncertain 2_96781986_G->C 2 96781986 96781986 G C snp 119.77 0/1 99 8 3 5 0.63 upstream rs3111873 ADRA2B AD 0.736222 0.5942 Uncertain 2_96789787_T->C 2 96789787 96789787 T C snp 1834.77 0/1 99 142 68 74 0.52 exonic rs893173 ASTL AU synonymous SNV NM_001002036 exon9 c.A1098G p.L366L 0.329473 0.4256 0.340843 0.3559 0.4644 Uncertain 2_96795608_T->G 2 96795608 96795608 T G snp 410.77 0/1 99 28 15 13 0.46 exonic rs1657502 ASTL AU nonsynonymous SNV NM_001002036 exon8 c.A829C p.K277Q 0.384185 0.621 0.339228 0.3932 0.6325 0.26 T 0.0 P -0.907 T 0.026 T 0.025 T Pathogenic 2_96795714_G->A 2 96795714 96795714 G A snp 562.77 0/1 99 50 24 26 0.52 exonic rs749459 ASTL AU synonymous SNV NM_001002036 exon8 c.C723T p.L241L 0.378794 0.5952 0.340304 0.3848 0.6171 Uncertain 2_96795857_T->C 2 96795857 96795857 T C snp 1826.77 1/1 99 68 0 68 1.0 exonic rs749458 ASTL AU nonsynonymous SNV NM_001002036 exon7 c.A665G p.Q222R 0.927117 1 0.850531 0.8596 0.9994 0.95 T 0.0 P -0.952 T 0.0 T 0.001 T Pathogenic 2_96795944_A->G 2 96795944 96795944 A G snp 208.77 0/1 99 60 48 12 0.2 intronic rs749457 ASTL AU NM_001002036 exon3 c.6296+60A>G 0.39976 0.6429 0.358958 Uncertain 2_96798409_C->T 2 96798409 96798409 C T snp 1980.77 0/1 99 169 80 89 0.53 exonic rs369122887 ASTL AU synonymous SNV NM_001002036 exon6 c.G507A p.A169A 0.000077 8.31e-05 0.0001 ID=COSM259526;OCCURENCE=2(large_intestine) Uncertain 2_96798510_G->A 2 96798510 96798510 G A snp 940.77 0/1 99 81 45 36 0.44 intronic rs1168966 ASTL AU NM_001002036 exon4 c.8872+50G>A 0.358427 0.6081 0.314240 0.3822 0.6216 Uncertain 2_96858914_A->G 2 96858914 96858914 A G snp 2787.77 0/1 99 236 112 124 0.53 intronic rs997548 STARD7 AU NM_020151 exon4 c.6431+16A>G 0.139577 0.124 0.138475 0.1622 0.1114 Uncertain 2_96859034_A->G 2 96859034 96859034 A G snp 2992.77 0/1 99 237 114 123 0.52 exonic rs997547 STARD7 AU synonymous SNV NM_020151 exon4 c.T606C p.I202I 0.107029 0.0863 0.109257 0.1380 0.0767 Uncertain 2_96861159_C->G 2 96861159 96861159 C G snp 755.77 0/1 99 97 61 36 0.37 exonic rs2276650 STARD7 AU nonsynonymous SNV NM_020151 exon2 c.G419C p.R140P 0.131789 0.124 0.131632 0.1848 0.1335 0.49 T 0.0 P -0.903 T 0.0 T 0.0 T Pathogenic 2_96874590_T->C 2 96874590 96874590 T C snp 2574.77 0/1 99 243 134 109 0.45 ncRNA_exonic rs6725867 STARD7-AS1 AU 0.254193 0.3532 Uncertain 2_96874591_T->C 2 96874591 96874591 T C snp 2618.77 0/1 99 242 131 111 0.46 ncRNA_exonic rs6725872 STARD7-AS1 AU 0.254193 0.3532 Uncertain 2_96919642_C->T 2 96919642 96919642 C T snp 1491.77 0/1 99 117 49 68 0.58 exonic rs3852673 TMEM127 AD synonymous SNV NM_017849 exon4 c.G621A p.A207A 0.139377 0.0873 0.138705 0.1634 0.0778 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|Hereditary_cancer-predisposing_syndrome;CLNREVSTAT=criteria_provided\x2c_single_submitter|criteria_provided\x2c_single_submitter;CLNACC=RCV000039051.4|RCV000162443.1;CLNDSDB=MedGen|MedGen:SNOMED_CT;CLNDSDBID=CN169374|C0027672:699346009 Uncertain 2_96934504_T->C 2 96934504 96934504 T C snp 295.77 0/1 99 29 15 14 0.48 intronic rs62153033 CIAO1 AU NM_004804 exon5 c.2308+108T>C 0.380791 0.2788 Uncertain 2_96943473_T->C 2 96943473 96943473 T C snp 2420.77 0/1 99 192 90 102 0.53 intronic rs3214063 SNRNP200 AD NM_014014 exon5 c.2704+20T>C 0.389377 0.2798 0.338382 0.3739 0.2423 Uncertain 2_96944553_G->A 2 96944553 96944553 G A snp 2608.77 0/1 99 235 116 119 0.51 exonic rs772175 SNRNP200 AD synonymous SNV NM_014014 exon37 c.C5317T p.L1773L 0.246006 0.4256 0.251961 0.3097 0.4568 Uncertain 2_96952833_A->G 2 96952833 96952833 A G snp 1250.77 0/1 99 127 73 54 0.43 exonic rs3171927 SNRNP200 AD synonymous SNV NM_014014 exon27 c.T3550C p.L1184L 0.284145 0.2153 0.235660 0.3190 0.1845 Uncertain 2_96954262_C->T 2 96954262 96954262 C T snp 44.79 0/1 23 3 1 2 0.67 intronic rs3214059 SNRNP200 AD NM_014014 exon22 c.13651-138C>T 0.00459265 0.0188 Uncertain 2_96955480_T->C 2 96955480 96955480 T C snp 122.77 0/1 64 6 2 4 0.67 intronic rs3214058 SNRNP200 AD NM_014014 exon25 c.14787-56T>C 0.384984 0.2599 Uncertain 2_96956315_T->G 2 96956315 96956315 T G snp 2157.77 1/1 99 74 0 74 1.0 intronic rs772176 SNRNP200 AD NM_014014 exon26 c.15503+63T>G 0.997204 1 Uncertain 2_96962859_A->G 2 96962859 96962859 A G snp 613.77 0/1 99 59 35 24 0.41 intronic rs17479466 SNRNP200 AD NM_014014 exon34 c.22059+51A>G 0.389976 0.2817 0.334999 0.3724 0.2427 Uncertain 2_96964499_G->A 2 96964499 96964499 G A snp 2777.77 0/1 99 207 91 116 0.56 intronic rs17119410 SNRNP200 AD NM_014014 exon39 c.23803-53G>A 0.0443291 0.1468 Uncertain 2_96966661_G->C 2 96966661 96966661 G C snp 1094.77 0/1 99 88 41 47 0.53 intronic rs3731930 SNRNP200 AD NM_014014 exon41 c.25986-74G>C 0.381589 0.2798 Uncertain 2_96991492_A->G 2 96991492 96991492 A G snp 7196.77 1/1 99 250 0 250 1.0 UTR5 rs772174 ITPRIPL1 AU 0.808506 1 0.682216 Uncertain 2_96992044_C->T 2 96992044 96992044 C T snp 1117.77 0/1 99 87 39 48 0.55 UTR5 rs76266595 ITPRIPL1 AU 0.00159744 0.0069 0.0005 0.0129 1 D -0.806 T Uncertain 2_96993757_C->T 2 96993757 96993757 C T snp 3717.77 0/1 99 250 112 138 0.55 exonic rs2279105 ITPRIPL1 AU nonsynonymous SNV NM_178495 exon1 c.C1412T p.T471M 0.360623 0.2312 0.306166 0.3510 0.2018 0.12 T 0.0 P -0.727 T 0.998 D 0.664 D Pathogenic 2_96993884_A->G 2 96993884 96993884 A G snp 2222.77 0/1 99 144 59 85 0.59 exonic rs1048675 ITPRIPL1 AU synonymous SNV NM_178495 exon1 c.A1539G p.P513P 0.379992 0.2778 0.317546 0.3570 0.2414 0.667 P -1.075 T Likely benign 2_97018981_G->A 2 97018981 97018981 G A snp 191.77 0/1 94 9 3 6 0.67 intronic rs147342611 NCAPH AU NM_001281712 exon7 c.10505-62G>A 0.00139776 0.0069 ID=COSN166205;OCCURENCE=2(breast) Uncertain 2_97020049_T->C 2 97020049 97020049 T C snp 1188.77 0/1 99 88 36 52 0.59 exonic rs3731935 NCAPH AU synonymous SNV NM_001281712 exon8 c.T723C p.D241D 0.279153 0.2232 0.216900 0.3032 0.1911 Uncertain 2_97020170_A->C 2 97020170 97020170 A C snp 203.8 0/1 21 7 1 6 0.86 intronic rs3731936 NCAPH AU NM_001281712 exon8 c.11588+44A>C 0.278954 0.2232 0.213945 0.2917 0.1935 Uncertain 2_97026576_C->T 2 97026576 97026576 C T snp 963.77 0/1 99 57 22 35 0.61 intronic rs62153915 NCAPH AU NM_001281712 exon11 c.17910+128C>T 0.370807 0.2331 Uncertain 2_97030247_T->C 2 97030247 97030247 T C snp 1407.77 0/1 99 120 53 67 0.56 exonic rs2305935 NCAPH AU nonsynonymous SNV NM_001281712 exon12 c.T1208C p.V403A 0.38099 0.2758 0.317546 0.3577 0.2421 0.79 T 0.0 P -0.967 T 0.0 T 0.0 T Pathogenic 2_97164943_C->T 2 97164943 97164943 C T snp 1317.77 0/1 99 106 49 57 0.54 exonic rs3731939 NEURL3 AU nonsynonymous SNV NM_001285486 exon5 c.G181A p.E61K 0.15595 0.2153 Pathogenic 2_97166204_A->G 2 97166204 97166204 A G snp 3397.77 1/1 99 111 0 111 1.0 exonic rs3731938 NEURL3 AU synonymous SNV NM_001285485 exon2 c.T486C p.Y162Y 0.729034 0.8333 0.625364 0.7025 0.8390 Uncertain 2_97166296_A->G 2 97166296 97166296 A G snp 992.77 0/1 99 81 39 42 0.52 exonic rs3731937 NEURL3 AU nonsynonymous SNV NM_001285485 exon2 c.T394C p.C132R 0.127596 0.2252 0.046277 0.0984 0.3540 Pathogenic 2_97267260_G->C 2 97267260 97267260 G C snp 480.77 0/1 99 28 13 15 0.54 intronic rs6759099 KANSL3 AU NM_001115016 exon2 c.6032-119G>C 0.366813 0.4534 Uncertain 2_97267293_T->C 2 97267293 97267293 T C snp 886.77 0/1 99 64 30 34 0.53 intronic rs6749159 KANSL3 AU NM_001115016 exon2 c.6032-86T>C 0.366813 0.4534 0.4641 0.5366 Uncertain 2_97267644_G->A 2 97267644 97267644 G A snp 68.77 0/1 97 9 6 3 0.33 intronic rs62154845 KANSL3 AU NM_001115016 exon2 c.6166+131G>A 0.366613 0.4534 Uncertain 2_97271090_G->A 2 97271090 97271090 G A snp 256.77 0/1 99 25 13 12 0.48 exonic rs35715176 KANSL3 AU nonsynonymous SNV NM_001115016 exon15 c.C1900T p.P634S 0.043131 0.1438 0.012000 0.0267 0.1477 0.78 T 0.000 P -1.013 T 0.001 T 0.002 T Pathogenic 2_97278449_C->T 2 97278449 97278449 C T snp 114.78 0/1 25 5 1 4 0.8 intronic rs201072365 KANSL3 AU NM_001115016 exon15 c.17207-105C>T 0.00179712 0.0089 Uncertain 2_97285062_C->T 2 97285062 97285062 C T snp 453.77 0/1 99 38 17 21 0.55 intronic rs72941209 KANSL3 AU NM_001115016 exon17 c.23748-33C>T 0.0984425 0.1438 0.061440 0.0536 0.1847 Uncertain 2_97293759_G->T 2 97293759 97293759 G T snp 1923.77 0/1 99 152 72 80 0.53 intronic rs78018759 KANSL3 AU NM_001115016 exon19 c.35701-3289G>T 0.0425319 0.1438 0.0295 0.1828 Uncertain 2_97308757_T->C 2 97308757 97308757 T C snp 496.77 0/1 99 42 25 17 0.4 intronic rs149553936 FER1L5 AU NM_001293083 exon1 c.85+99T>C 0.00179712 0.0089 Uncertain 2_97313450_C->G 2 97313450 97313450 C G snp 754.77 0/1 99 70 41 29 0.41 intronic rs749949 FER1L5 AU NM_001293083 exon4 c.4941-64C>G 0.368211 0.4623 Uncertain 2_97326286_T->C 2 97326286 97326286 T C snp 434.77 0/1 99 26 13 13 0.5 intronic rs4907246 FER1L5 AU NM_001293083 exon10 c.17535+178T>C 0.372404 0.4583 Uncertain 2_97329411_C->G 2 97329411 97329411 C G snp 172.77 0/1 99 14 8 6 0.43 intronic rs78099783 FER1L5 AU NM_001293083 exon14 c.20671+167C>G 0.0383387 0.122 Uncertain 2_97336089_G->C 2 97336089 97336089 G C snp 235.77 0/1 99 13 4 9 0.69 intronic rs2292942 FER1L5 AU NM_001293083 exon18 c.27411+105G>C 0.0922524 0.123 Uncertain 2_97339155_-->TG 2 97339155 97339155 - TG indel 266.8 1/1 18 6 0 6 1.0 intronic rs36064340 FER1L5 AU NM_001293083 exon19 c.30418+164insTG 0.84345 0.7569 Uncertain 2_97351840_A->G 2 97351840 97351840 A G snp 4704.77 1/1 99 158 0 158 1.0 exonic rs7599598 FER1L5 AU nonsynonymous SNV NM_001293083 exon22 c.A2059G p.T687A 0.504792 0.4524 0.530880 0.4024 0.4671 1 T -0.984 T 0.0 T 0.0 T Pathogenic 2_97353725_G->A 2 97353725 97353725 G A snp 906.77 0/1 99 69 36 33 0.48 intronic rs868168 FER1L5 AU NM_001293083 exon24 c.45111+41G>A 0.190695 0.2331 0.240911 0.2285 0.2404 Uncertain 2_97357108_G->A 2 97357108 97357108 G A snp 2213.77 0/1 99 163 80 83 0.51 intronic rs62156206 FER1L5 AU NM_001293083 exon28 c.48517+18G>A 0.0782748 0.1171 0.073587 0.0780 0.1517 Uncertain 2_97357756_-->G 2 97357756 97357756 - G indel 92.73 0/1 99 33 12 21 0.64 intronic FER1L5 AU NM_001293083 exon30 c.49127+56insG Uncertain 2_97359236_C->A 2 97359236 97359236 C A snp 283.77 0/1 99 38 26 12 0.32 intronic rs62156207 FER1L5 AU NM_001293083 exon32 c.50669-6C>A 0.118211 0.1161 0.110600 0.0905 0.1323 Uncertain 2_97359364_A->G 2 97359364 97359364 A G snp 824.77 0/1 99 104 63 41 0.39 exonic rs61750875 FER1L5 AU synonymous SNV NM_001293083 exon32 c.A3414G p.P1138P 0.209864 0.1984 0.179150 0.1149 0.2131 Uncertain 2_97360079_C->T 2 97360079 97360079 C T snp 1264.77 0/1 99 101 43 58 0.57 intronic rs72809820 FER1L5 AU NM_001293083 exon34 c.51523-17C>T 0.205272 0.3264 0.240035 0.2723 0.3407 Uncertain 2_97366088_T->C 2 97366088 97366088 T C snp 3201.82 0/1 99 238 102 136 0.57 exonic rs61742095 FER1L5 AU synonymous SNV NM_001293083 exon45 c.T4950C p.V1650V 0.0796725 0.121 0.072187 0.0658 0.1249 Uncertain 2_97366303_A->G 2 97366303 97366303 A G snp 216.84 1/1 18 6 0 6 1.0 intronic rs2280355 FER1L5 AU NM_001293083 exon45 c.57635+95A>G 0.653155 0.5099 Uncertain 2_97377883_C->T 2 97377883 97377883 C T snp 301.77 0/1 99 18 6 12 0.67 intronic rs3731940 LMAN2L AR NM_001142292 exon4 c.4770+121C>T 0.0664936 0.0585 Uncertain 2_97399096_C->T 2 97399096 97399096 C T snp 908.77 0/1 99 85 48 37 0.44 intronic rs62156212 LMAN2L AR NM_001142292 exon6 c.26263-159C>T 0.0758786 0.0685 Uncertain 2_97399100_T->C 2 97399100 97399100 T C snp 901.77 0/1 99 87 50 37 0.43 intronic rs62156213 LMAN2L AR NM_001142292 exon6 c.26263-155T>C 0.0758786 0.0685 Uncertain 2_97400324_A->G 2 97400324 97400324 A G snp 3309.77 1/1 99 120 0 120 1.0 intronic rs6727384 LMAN2L AR NM_001142292 exon7 c.27271+61A>G 0.426118 0.3968 Uncertain 2_97403110_G->A 2 97403110 97403110 G A snp 295.77 0/1 99 13 4 9 0.69 intronic rs58361269 LMAN2L AR NM_001142292 exon8 c.30693-575G>A 0.155551 0.2024 Uncertain 2_97405866_T->C 2 97405866 97405866 T C snp 293.77 0/1 99 40 26 14 0.35 upstream rs6751132 LMAN2L AR 0.142173 0.0685 Uncertain 2_97405896_A->G 2 97405896 97405896 A G snp 129.77 0/1 99 14 8 6 0.43 upstream rs56913233 LMAN2L AR 0.0760783 0.0685 Uncertain 2_97463095_T->C 2 97463095 97463095 T C snp 926.77 1/1 69 25 0 25 1.0 intronic rs1318597 CNNM4 AR NM_020184 exon3 c.36513-154T>C 0.43151 0.3968 Uncertain 2_97463529_G->A 2 97463529 97463529 G A snp 220.84 1/1 18 6 0 6 1.0 intronic rs7582249 CNNM4 AR NM_020184 exon3 c.36648+145G>A 0.429712 0.3948 Uncertain 2_97492479_G->A 2 97492479 97492479 G A snp 110.77 0/1 99 10 6 4 0.4 intronic rs2276654 CNNM3 AU NM_017623 exon3 c.10555-90G>A 0.0746805 0.0655 0.078187 Uncertain 2_97493877_T->C 2 97493877 97493877 T C snp 2913.77 0/1 99 247 132 115 0.47 exonic rs1320149 CNNM3 AU synonymous SNV NM_017623 exon5 c.T1731C p.F577F 0.317891 0.1885 0.299631 0.1449 0.1541 Uncertain 2_97498481_T->A 2 97498481 97498481 T A snp 288.77 0/1 99 22 12 10 0.45 UTR3 rs9973492 CNNM3 AU 0.209465 0.0655 Uncertain 2_97507727_T->C 2 97507727 97507727 T C snp 161.77 0/1 99 14 8 6 0.43 intronic rs1320146 ANKRD23 AU NM_144994 exon7 c.2511-69T>C 0.211661 0.0655 Uncertain 2_97508082_G->C 2 97508082 97508082 G C snp 71.77 0/1 96 9 6 3 0.33 intronic rs58147284 ANKRD23 AU NM_144994 exon8 c.2816-19G>C 0.21845 0.0655 0.163077 0.0925 0.0611 Uncertain 2_97508320_G->C 2 97508320 97508320 G C snp 298.77 0/1 99 33 19 14 0.42 intronic rs6576986 ANKRD23 AU NM_144994 exon8 c.2963+72G>C 0.210064 0.0655 Uncertain 2_97529360_T->A 2 97529360 97529360 T A snp 1149.77 0/1 99 98 49 49 0.5 intronic rs59271006 SEMA4C AU NM_017789 exon4 c.3056-58T>A 0.424121 0.6339 Uncertain 2_97544089_G->C 2 97544089 97544089 G C snp 318.77 0/1 99 50 34 16 0.32 intronic rs6750988 FAM178B AU NM_001122646 exon3 c.2140-63G>C 0.567093 0.7202 Uncertain 2_97559759_G->A 2 97559759 97559759 G A snp 1145.77 0/1 99 122 69 53 0.43 exonic rs11677797 FAM178B AU synonymous SNV NM_001172667 exon2 c.C57T p.L19L 0.428514 0.6766 0.207231 0.3427 0.6457 Uncertain 2_97560913_C->T 2 97560913 97560913 C T snp 612.77 0/1 99 68 40 28 0.41 intronic rs4907206 FAM178B AU NM_001172667 exon5 c.18887+14C>T 0.417332 0.624 Uncertain 2_97587049_T->C 2 97587049 97587049 T C snp 962.77 0/1 99 75 35 40 0.53 ncRNA_intronic rs34895357 LOC101927053 AU 0.652556 0.4812 0.6084 0.4819 Uncertain 2_97595109_T->C 2 97595109 97595109 T C snp 686.77 0/1 99 53 23 30 0.57 intronic rs6725927 FAM178B AU NM_001122646 exon9 c.53045+52T>C 0.663339 0.495 0.832457 Uncertain 2_97613616_T->C 2 97613616 97613616 T C snp 529.77 0/1 99 64 37 27 0.42 exonic rs1624844 FAM178B AU synonymous SNV NM_001122646 exon8 c.A1017G p.T339T 0.663339 0.504 0.6310 0.4984 Uncertain 2_97613748_C->A 2 97613748 97613748 C A snp 348.77 0/1 99 20 8 12 0.6 intronic rs1623881 FAM178B AU NM_001122646 exon10 c.71627+109C>A 0.61901 0.4206 Uncertain 2_97617140_T->C 2 97617140 97617140 T C snp 1773.77 0/1 99 168 92 76 0.45 exonic rs1257019 FAM178B AU synonymous SNV NM_001122646 exon7 c.A969G p.V323V 0.651957 0.504 0.6161 0.5016 Uncertain 2_97617227_A->G 2 97617227 97617227 A G snp 1409.77 0/1 99 140 75 65 0.46 splicing rs1257018 FAM178B AU NM_001122646 exon11 c.75209+6A>G 0.66873 0.504 0.821507 0.6246 0.5016 Pathogenic 2_97637516_T->C 2 97637516 97637516 T C snp 675.77 0/1 99 54 27 27 0.5 intronic rs6714860 FAM178B AU NM_001122646 exon15 c.95625-121T>C 0.634784 0.4276 Uncertain 2_97637905_T->C 2 97637905 97637905 T C snp 1456.77 0/1 99 130 65 65 0.5 exonic rs6715329 FAM178B AU nonsynonymous SNV NM_001122646 exon3 c.A297G p.I99M 0.635383 0.4276 0.6557 0.4299 1 T 0.000 P -0.960 T Pathogenic 2_97638038_A->G 2 97638038 97638038 A G snp 699.77 0/1 99 56 28 28 0.5 exonic rs1730120 FAM178B AU nonsynonymous SNV NM_001122646 exon3 c.T164C p.V55A 0.598442 0.3839 0.830326 0.7598 0.3870 0.56 T 0.0 P -0.992 T Pathogenic 2_97643576_T->C 2 97643576 97643576 T C snp 2218.77 0/1 99 198 103 95 0.48 intronic rs1796048 FAM178B AU NM_001122646 exon16 c.96331+5233T>C 0.34405 0.254 0.4698 0.2828 Uncertain 2_97747978_C->T 2 97747978 97747978 C T snp 95.77 0/1 99 22 17 5 0.23 intergenic rs1257094 FAM178B AU 0.372005 0.2579 Uncertain 2_97749576_C->T 2 97749576 97749576 C T snp 1561.77 0/1 99 138 69 69 0.5 intronic rs74366651 FAHD2B AU NM_199336 exon1 c.63+22C>T 0.00499201 0.0238 0.000077 0.0016 0.0209 Uncertain 2_97751782_T->C 2 97751782 97751782 T C snp 232.77 0/1 99 18 9 9 0.5 intronic rs62155549 FAHD2B AU NM_199336 exon5 c.2384-93T>C 0.342252 0.2788 Uncertain 2_97751783_G->A 2 97751783 97751783 G A snp 217.77 0/1 99 18 9 9 0.5 intronic rs62155550 FAHD2B AU NM_199336 exon5 c.2384-92G>A 0.342053 0.2778 Uncertain 2_97751786_G->A 2 97751786 97751786 G A snp 187.77 0/1 99 21 12 9 0.43 intronic rs62155551 FAHD2B AU NM_199336 exon5 c.2384-89G>A 0.334665 0.251 Uncertain 2_97757509_C->T 2 97757509 97757509 C T snp 1815.77 0/1 99 144 66 78 0.54 intronic rs1257084 FAHD2B AU NM_199336 exon7 c.7958+60C>T 0.352835 0.249 Uncertain 2_97814956_G->A 2 97814956 97814956 G A snp 468.77 0/1 99 39 18 21 0.54 intronic rs4386368 ANKRD36 AU NM_001164315 exon12 c.35555-75G>A 0.464856 0.4077 Uncertain 2_97817469_T->A 2 97817469 97817469 T A snp 140.77 0/1 99 14 7 7 0.5 intronic rs62153866 ANKRD36 AU NM_001164315 exon13 c.38139-146T>A Uncertain 2_97817511_T->C 2 97817511 97817511 T C snp 621.77 0/1 99 60 27 33 0.55 intronic rs62153867 ANKRD36 AU NM_001164315 exon13 c.38139-104T>C Uncertain 2_97817545_A->T 2 97817545 97817545 A T snp 368.77 0/1 99 93 70 23 0.25 intronic rs80259985 ANKRD36 AU NM_001164315 exon13 c.38139-70A>T Uncertain 2_97817564_C->A 2 97817564 97817564 C A snp 708.77 0/1 99 104 66 38 0.37 intronic rs113873207 ANKRD36 AU NM_001164315 exon13 c.38139-51C>A Uncertain 2_97817564_-->T 2 97817564 97817564 - T indel 3683.73 1/1 99 90 0 90 1.0 intronic rs33971912 ANKRD36 AU NM_001164315 exon13 c.38139-51insT 1 1 0.996162 Uncertain 2_97817578_T->C 2 97817578 97817578 T C snp 703.77 0/1 99 128 90 38 0.3 intronic rs113800206 ANKRD36 AU NM_001164315 exon13 c.38139-37T>C 0.5101 0.5776 Uncertain 2_97817617_T->C 2 97817617 97817617 T C snp 647.77 0/1 99 141 107 34 0.24 exonic rs77391458 ANKRD36 AU nonsynonymous SNV NM_001164315 exon13 c.T1103C p.I368T 0.4150 0.4906 1 T 1 N -0.988 T 0.0 T 0.0 T Pathogenic 2_97817640_A->G 2 97817640 97817640 A G snp 327.77 0/1 99 129 106 23 0.18 exonic rs75514873 ANKRD36 AU nonsynonymous SNV NM_001164315 exon13 c.A1126G p.K376E 0.3817 0.4724 0.83 T 0.0 P -0.949 T 0.174 T 0.024 T Pathogenic 2_97817647_A->G 2 97817647 97817647 A G snp 146.77 0/1 99 121 104 17 0.14 exonic rs79579412 ANKRD36 AU nonsynonymous SNV NM_001164315 exon13 c.A1133G p.K378R 0.3772 0.4691 0.2 T 0.0 P -1.011 T 0.0 T 0.0 T Pathogenic 2_97818075_G->T 2 97818075 97818075 G T snp 86.77 0/1 30 4 1 3 0.75 intronic rs377118925 ANKRD36 AU NM_001164315 exon14 c.38764-165G>T Uncertain 2_97818078_A->G 2 97818078 97818078 A G snp 83.77 0/1 63 5 2 3 0.6 intronic rs201288058 ANKRD36 AU NM_001164315 exon14 c.38764-162A>G Uncertain 2_97818101_T->G 2 97818101 97818101 T G snp 200.77 0/1 99 10 3 7 0.7 intronic rs111932285 ANKRD36 AU NM_001164315 exon14 c.38764-139T>G Uncertain 2_97818114_G->T 2 97818114 97818114 G T snp 277.77 0/1 94 14 3 11 0.79 intronic rs146739597 ANKRD36 AU NM_001164315 exon14 c.38764-126G>T Uncertain 2_97818146_G->A 2 97818146 97818146 G A snp 536.77 0/1 99 37 12 25 0.68 intronic rs145799985 ANKRD36 AU NM_001164315 exon14 c.38764-94G>A Uncertain 2_97818161_C->A 2 97818161 97818161 C A snp 678.77 0/1 99 48 18 30 0.63 intronic rs74715701 ANKRD36 AU NM_001164315 exon14 c.38764-79C>A Uncertain 2_97818169_C->T 2 97818169 97818169 C T snp 702.77 0/1 99 54 21 33 0.61 intronic rs76008235 ANKRD36 AU NM_001164315 exon14 c.38764-71C>T Uncertain 2_97818188_T->C 2 97818188 97818188 T C snp 840.77 0/1 99 87 37 50 0.57 intronic rs141129874 ANKRD36 AU NM_001164315 exon14 c.38764-52T>C Uncertain 2_97818192_A->G 2 97818192 97818192 A G snp 913.77 0/1 99 93 41 52 0.56 intronic rs202154783 ANKRD36 AU NM_001164315 exon14 c.38764-48A>G 0.0006 0 Uncertain 2_97818197_G->T 2 97818197 97818197 G T snp 917.77 0/1 99 94 42 52 0.55 intronic rs200340181 ANKRD36 AU NM_001164315 exon14 c.38764-43G>T 0.0006 0 Uncertain 2_97818236_A->C 2 97818236 97818236 A C snp 913.77 0/1 99 128 68 60 0.47 splicing rs112647905 ANKRD36 AU NM_001164315 exon14 c.38764-4A>C 0.0332 0.0170 Pathogenic 2_97818261_G->T 2 97818261 97818261 G T snp 713.77 0/1 99 135 86 49 0.36 exonic rs139806872 ANKRD36 AU nonsynonymous SNV NM_001164315 exon14 c.G1183T p.A395S 0.38 T 1 N -0.966 T 0.005 T 0.001 T Pathogenic 2_97818262_C->G 2 97818262 97818262 C G snp 753.77 0/1 99 135 86 49 0.36 exonic rs147852915 ANKRD36 AU nonsynonymous SNV NM_001164315 exon14 c.C1184G p.A395G 0.19 T 1 N -1.003 T 0.023 T 0.002 T Pathogenic 2_97818264_G->T 2 97818264 97818264 G T snp 731.77 0/1 99 135 87 48 0.36 exonic rs150243949 ANKRD36 AU nonsynonymous SNV NM_001164315 exon14 c.G1186T p.V396F 0.16 T 1 N -1.031 T 0.026 T 0.002 T Pathogenic 2_97818283_G->C 2 97818283 97818283 G C snp 694.77 0/1 99 139 93 46 0.33 intronic rs112336445 ANKRD36 AU NM_001164315 exon14 c.38795+12G>C 0.0265 0.0290 Uncertain 2_97818326_G->T 2 97818326 97818326 G T snp 190.77 0/1 99 109 87 22 0.2 intronic rs72493416 ANKRD36 AU NM_001164315 exon14 c.38795+55G>T Uncertain 2_97818348_A->G 2 97818348 97818348 A G snp 1044.77 0/1 99 77 30 47 0.61 intronic rs58438329 ANKRD36 AU NM_001164315 exon14 c.38795+77A>G 0.377596 0.2748 Uncertain 2_97820390_G->T 2 97820390 97820390 G T snp 340.77 0/1 99 66 51 15 0.23 intronic rs529408659 ANKRD36 AU NM_001164315 exon15 c.40935-21G>T 0.00678914 0.0337 0.0006 0.0353 Uncertain 2_97820392_A->C 2 97820392 97820392 A C snp 269.77 0/1 99 69 53 16 0.23 intronic rs76352034 ANKRD36 AU NM_001164315 exon15 c.40935-19A>C 0.00678914 0.0337 0.2196 0.3469 Uncertain 2_97823971_T->C 2 97823971 97823971 T C snp 451.77 0/1 99 53 30 23 0.43 intronic rs13011421 ANKRD36 AU NM_001164315 exon16 c.44428+67T>C 0.392772 0.2748 Uncertain 2_97827667_G->A 2 97827667 97827667 G A snp 44.74 1/1 6 2 0 2 1.0 intronic rs76780522 ANKRD36 AU NM_001164315 exon18 c.48359-168G>A Uncertain 2_97827700_A->G 2 97827700 97827700 A G snp 98.77 0/1 30 8 2 6 0.75 intronic rs2924001 ANKRD36 AU NM_001164315 exon18 c.48359-135A>G Uncertain 2_97827737_C->T 2 97827737 97827737 C T snp 187.77 0/1 99 13 4 9 0.69 intronic rs76168297 ANKRD36 AU NM_001164315 exon18 c.48359-98C>T Uncertain 2_97827757_A->G 2 97827757 97827757 A G snp 96.77 0/1 99 15 9 6 0.4 intronic rs76324746 ANKRD36 AU NM_001164315 exon18 c.48359-78A>G Uncertain 2_97827787_G->A 2 97827787 97827787 G A snp 206.77 0/1 99 20 7 13 0.65 intronic rs113653147 ANKRD36 AU NM_001164315 exon18 c.48359-48G>A 0.5008 0.5 Uncertain 2_97827800_A->G 2 97827800 97827800 A G snp 185.77 0/1 99 21 8 13 0.62 intronic rs111338734 ANKRD36 AU NM_001164315 exon18 c.48359-35A>G 0.5002 0.5 Uncertain 2_97827818_-->T 2 97827818 97827818 - T indel 151.73 0/1 67 17 4 13 0.76 intronic rs34725305 ANKRD36 AU NM_001164315 exon18 c.48359-17insT 0.3937 0.4172 Uncertain 2_97827839_G->A 2 97827839 97827839 G A snp 107.77 0/1 99 13 6 7 0.54 exonic rs199729690 ANKRD36 AU nonsynonymous SNV NM_001164315 exon18 c.G1393A p.G465R 0.5001 0.5 0.64 T 1.000 N -1.035 T 0.767 T 0.094 P Pathogenic 2_97828854_G->A 2 97828854 97828854 G A snp 181.8 0/1 21 7 1 6 0.86 intronic rs78227967 ANKRD36 AU NM_001164315 exon18 c.48399+979G>A Uncertain 2_97828929_A->G 2 97828929 97828929 A G snp 948.77 0/1 99 73 18 55 0.75 intronic rs62153883 ANKRD36 AU NM_001164315 exon18 c.48399+1054A>G 0.619808 0.4752 Uncertain 2_97828935_C->T 2 97828935 97828935 C T snp 194.77 0/1 99 89 76 13 0.15 intronic rs201360881 ANKRD36 AU NM_001164315 exon18 c.48399+1060C>T 0.1860 0.0814 Uncertain 2_97828982_C->T 2 97828982 97828982 C T snp 2093.77 0/1 99 176 33 143 0.81 intronic rs62153884 ANKRD36 AU NM_001164315 exon19 c.50543-1037C>T 0.3260 0.2308 0.45 T 1 N -1.019 T Uncertain 2_97829004_AAAAATAA->- 2 97829004 97829011 AAAAATAA - indel 8803.73 0/1 99 132 32 100 0.76 intronic rs145086333 ANKRD36 AU NM_001164315 exon19 c.50543-1015_50543-1008delAAAAATAA 0.0556 0.0923 Uncertain 2_97829023_T->A 2 97829023 97829023 T A snp 230.77 0/1 99 190 168 22 0.12 intronic rs771454086 ANKRD36 AU NM_001164315 exon19 c.50543-996T>A 0.0135 0.0068 0.04 T 1 N -0.981 T Uncertain 2_97829029_G->A 2 97829029 97829029 G A snp 2043.77 0/1 99 194 50 144 0.74 intronic rs146874874 ANKRD36 AU NM_001164315 exon19 c.50543-990G>A 0.2010 0.2143 0.12 T 1 N -1.014 T Uncertain 2_97829030_T->G 2 97829030 97829030 T G snp 1805.77 0/1 99 194 50 144 0.74 intronic rs140945055 ANKRD36 AU NM_001164315 exon19 c.50543-989T>G 0.2056 0.2093 0.4 T 1 N -1.006 T Uncertain 2_97829120_T->C 2 97829120 97829120 T C snp 266.77 0/1 99 104 61 43 0.41 intronic ANKRD36 AU NM_001164315 exon19 c.50543-899T>C Uncertain 2_97829121_G->A 2 97829121 97829121 G A snp 593.77 0/1 99 98 41 57 0.58 intronic rs767306610 ANKRD36 AU NM_001164315 exon19 c.50543-898G>A 0.0038 0 Uncertain 2_97829122_C->T 2 97829122 97829122 C T snp 572.77 0/1 99 98 40 58 0.59 intronic rs750317243 ANKRD36 AU NM_001164315 exon19 c.50543-897C>T 0.0028 0 Uncertain 2_97829127_TTT->- 2 97829127 97829129 TTT - indel 863.73 0/1 99 59 33 26 0.44 intronic rs372495234 ANKRD36 AU NM_001164315 exon19 c.50543-892_50543-890delTTT Uncertain 2_97829144_T->G 2 97829144 97829144 T G snp 366.77 0/1 99 73 29 44 0.6 intronic rs62153885 ANKRD36 AU NM_001164315 exon19 c.50543-875T>G Uncertain 2_97829204_C->T 2 97829204 97829204 C T snp 40.77 0/1 69 22 10 12 0.55 intronic rs75770158 ANKRD36 AU NM_001164315 exon19 c.50543-815C>T Uncertain 2_97830012_C->T 2 97830012 97830012 C T snp 142.77 0/1 99 21 9 12 0.57 intronic rs200393754 ANKRD36 AU NM_001164315 exon19 c.50543-7C>T 0.1854 0.2455 Uncertain 2_97830016_G->T 2 97830016 97830016 G T snp 97.77 0/1 99 24 15 9 0.38 splicing rs201424946 ANKRD36 AU NM_001164315 exon19 c.50543-3G>T 0.0346 0.0243 Pathogenic 2_97830053_A->G 2 97830053 97830053 A G snp 511.77 0/1 99 101 41 60 0.59 splicing rs112213180 ANKRD36 AU NM_001164315 exon19 c.50572+5A>G 0.2480 0.2917 Pathogenic 2_97830104_G->A 2 97830104 97830104 G A snp 463.77 0/1 99 202 121 81 0.4 intronic rs62153886 ANKRD36 AU NM_001164315 exon20 c.50657-29G>A 0.4921 0.5 Uncertain 2_97833159_T->A 2 97833159 97833159 T A snp 161.9 1/1 15 7 0 7 1.0 intronic rs5008280 ANKRD36 AU NM_001164315 exon21 c.53837-154T>A Uncertain 2_97833193_G->A 2 97833193 97833193 G A snp 688.77 0/1 99 30 5 25 0.83 intronic rs5008281 ANKRD36 AU NM_001164315 exon21 c.53837-120G>A Uncertain 2_97833199_A->T 2 97833199 97833199 A T snp 59.77 0/1 88 35 28 7 0.2 intronic rs139468976 ANKRD36 AU NM_001164315 exon21 c.53837-114A>T Uncertain 2_97833215_T->C 2 97833215 97833215 T C snp 814.77 0/1 99 47 10 37 0.79 intronic rs146634230 ANKRD36 AU NM_001164315 exon21 c.53837-98T>C Uncertain 2_97833217_C->T 2 97833217 97833217 C T snp 880.77 0/1 99 52 13 39 0.75 intronic rs150423357 ANKRD36 AU NM_001164315 exon21 c.53837-96C>T Uncertain 2_97833342_G->A 2 97833342 97833342 G A snp 865.77 0/1 99 102 57 45 0.44 exonic rs5008284 ANKRD36 AU synonymous SNV NM_001164315 exon21 c.G1560A p.T520T 0.5005 0.5 Uncertain 2_97833361_A->G 2 97833361 97833361 A G snp 513.77 0/1 99 113 77 36 0.32 intronic rs1358633 ANKRD36 AU NM_001164315 exon21 c.53866+19A>G 0.4793 0.4753 Uncertain 2_97833466_C->T 2 97833466 97833466 C T snp 2025.77 0/1 99 250 106 144 0.58 exonic rs112133169 ANKRD36 AU nonsynonymous SNV NM_001164315 exon22 c.C1595T p.A532V 0.4997 0.5 0.56 T 1 N -1.003 T 0.0 T 0.0 T Pathogenic 2_97833546_G->A 2 97833546 97833546 G A snp 30.77 0/1 59 229 205 24 0.1 intronic rs200919671 ANKRD36 AU NM_001164315 exon22 c.54028+42G>A 0.0790 0.1468 Uncertain 2_97833553_C->T 2 97833553 97833553 C T snp 2334.77 0/1 99 223 77 146 0.65 intronic rs76811792 ANKRD36 AU NM_001164315 exon22 c.54028+49C>T 0.5 0.5031 Uncertain 2_97833567_A->G 2 97833567 97833567 A G snp 1810.77 0/1 99 207 103 104 0.5 intronic rs76160111 ANKRD36 AU NM_001164315 exon22 c.54028+63A>G Uncertain 2_97833569_C->T 2 97833569 97833569 C T snp 2352.77 0/1 99 205 74 131 0.64 intronic rs78400826 ANKRD36 AU NM_001164315 exon22 c.54028+65C>T Uncertain 2_97833583_C->T 2 97833583 97833583 C T snp 2371.77 0/1 99 180 61 119 0.66 intronic rs72945197 ANKRD36 AU NM_001164315 exon22 c.54028+79C>T Uncertain 2_97833651_C->A 2 97833651 97833651 C A snp 246.77 0/1 99 16 7 9 0.56 intronic rs72945198 ANKRD36 AU NM_001164315 exon22 c.54028+147C>A Uncertain 2_97851015_T->G 2 97851015 97851015 T G snp 35.77 0/1 64 37 29 8 0.22 intronic ANKRD36 AU NM_001164315 exon29 c.71576-37T>G Uncertain 2_97851069_A->G 2 97851069 97851069 A G snp 1419.77 0/1 99 163 101 62 0.38 exonic rs11164115 ANKRD36 AU synonymous SNV NM_001164315 exon29 c.A1956G p.Q652Q 0.390375 0.2579 0.615688 0.6084 0.3047 Uncertain 2_97851075_C->T 2 97851075 97851075 C T snp 504.77 0/1 99 165 117 48 0.29 exonic ANKRD36 AU synonymous SNV NM_001164315 exon29 c.C1962T p.A654A Uncertain 2_97851076_T->G 2 97851076 97851076 T G snp 501.77 0/1 99 166 118 48 0.29 exonic ANKRD36 AU nonsynonymous SNV NM_001164315 exon29 c.T1963G p.S655A 0.25 T 1 N -0.965 T 0.332 T 0.259 T Pathogenic 2_97851077_C->A 2 97851077 97851077 C A snp 492.77 0/1 99 169 121 48 0.28 exonic ANKRD36 AU stopgain NM_001164315 exon29 c.C1964A p.S655X 0.31 T 1 N Pathogenic 2_97851078_A->G 2 97851078 97851078 A G snp 495.77 0/1 99 170 120 50 0.29 exonic ANKRD36 AU synonymous SNV NM_001164315 exon29 c.A1965G p.S655S Uncertain 2_97851096_A->C 2 97851096 97851096 A C snp 609.77 0/1 99 250 157 93 0.37 intronic ANKRD36 AU NM_001164315 exon29 c.71605+15A>C Uncertain 2_97851107_G->T 2 97851107 97851107 G T snp 493.77 0/1 99 250 154 96 0.38 intronic ANKRD36 AU NM_001164315 exon29 c.71605+26G>T Uncertain 2_97851123_A->G 2 97851123 97851123 A G snp 281.77 0/1 99 250 157 93 0.37 intronic ANKRD36 AU NM_001164315 exon29 c.71605+42A>G Uncertain 2_97851127_C->T 2 97851127 97851127 C T snp 305.77 0/1 99 250 156 94 0.38 intronic ANKRD36 AU NM_001164315 exon29 c.71605+46C>T Uncertain 2_97851128_A->T 2 97851128 97851128 A T snp 344.77 0/1 99 250 157 93 0.37 intronic ANKRD36 AU NM_001164315 exon30 c.71698-46A>T Uncertain 2_97851137_A->T 2 97851137 97851137 A T snp 270.77 0/1 99 250 156 94 0.38 intronic ANKRD36 AU NM_001164315 exon30 c.71698-37A>T Uncertain 2_97851142_C->A 2 97851142 97851142 C A snp 187.77 0/1 99 250 158 92 0.37 intronic rs375172653 ANKRD36 AU NM_001164315 exon30 c.71698-32C>A Uncertain 2_97867870_G->C 2 97867870 97867870 G C snp 136.03 1/1 12 4 0 4 1.0 intronic rs9324211 ANKRD36 AU NM_001164315 exon47 c.88462-68G>C 0.478035 0.4256 Uncertain 2_97877292_C->A 2 97877292 97877292 C A snp 517.77 0/1 99 36 17 19 0.53 exonic rs10171441 ANKRD36 AU nonsynonymous SNV NM_001164315 exon57 c.C3377A p.P1126Q 0.64996 0.4772 0.7528 0.5189 0.35 T 0.0 P -1.010 T 0.0 T 0.0 T Pathogenic 2_97877399_T->C 2 97877399 97877399 T C snp 2579.77 0/1 99 177 66 111 0.63 intronic rs10186233 ANKRD36 AU NM_001164315 exon58 c.97929-6T>C 0.64976 0.4802 0.861087 0.8088 0.6506 Uncertain 2_97877440_T->C 2 97877440 97877440 T C snp 1399.77 0/1 99 208 134 74 0.36 exonic rs35711845 ANKRD36 AU nonsynonymous SNV NM_001164315 exon58 c.T3431C p.M1144T 0.264377 0.1964 0.401445 0.4457 0.3123 0.37 T 0.0 P -0.959 T 0.0 T 0.0 T Pathogenic 2_97877478_G->A 2 97877478 97877478 G A snp 972.77 0/1 99 190 134 56 0.29 exonic rs10194525 ANKRD36 AU nonsynonymous SNV NM_001164315 exon58 c.G3469A p.V1157M 0.3949 0.3613 0.02 T 1.000 N -1.060 T 0.943 T 0.608 D Pathogenic 2_98128093_G->A 2 98128093 98128093 G A snp 31.77 0/1 60 25 17 8 0.32 exonic ANKRD36B AU synonymous SNV NM_025190 exon39 c.C3228T p.H1076H Uncertain 2_98128098_G->A 2 98128098 98128098 G A snp 49.77 0/1 78 32 23 9 0.28 exonic ANKRD36B AU nonsynonymous SNV NM_025190 exon39 c.C3223T p.R1075C Pathogenic 2_98128099_A->C 2 98128099 98128099 A C snp 49.77 0/1 78 32 23 9 0.28 exonic ANKRD36B AU nonsynonymous SNV NM_025190 exon39 c.T3222G p.C1074W Pathogenic 2_98128135_G->A 2 98128135 98128135 G A snp 1791.77 0/1 99 114 39 75 0.66 exonic ANKRD36B AU synonymous SNV NM_025190 exon39 c.C3186T p.D1062D Uncertain 2_98128143_T->C 2 98128143 98128143 T C snp 2316.77 0/1 99 136 42 94 0.69 exonic ANKRD36B AU nonsynonymous SNV NM_025190 exon39 c.A3178G p.K1060E Pathogenic 2_98128150_G->A 2 98128150 98128150 G A snp 2154.77 0/1 99 153 61 92 0.6 exonic ANKRD36B AU synonymous SNV NM_025190 exon39 c.C3171T p.H1057H Uncertain 2_98128172_C->A 2 98128172 98128172 C A snp 3642.77 0/1 99 221 60 161 0.73 exonic ANKRD36B AU nonsynonymous SNV NM_025190 exon39 c.G3149T p.R1050L Pathogenic 2_98128183_C->G 2 98128183 98128183 C G snp 602.77 0/1 99 250 203 47 0.19 exonic ANKRD36B AU synonymous SNV NM_025190 exon39 c.G3138C p.L1046L Uncertain 2_98128194_G->C 2 98128194 98128194 G C snp 3983.77 0/1 99 249 59 190 0.76 exonic ANKRD36B AU nonsynonymous SNV NM_025190 exon39 c.C3127G p.R1043G Pathogenic 2_98128195_G->A 2 98128195 98128195 G A snp 3967.77 0/1 99 250 60 190 0.76 exonic ANKRD36B AU synonymous SNV NM_025190 exon39 c.C3126T p.Y1042Y Uncertain 2_98128196_T->C 2 98128196 98128196 T C snp 3972.77 0/1 99 249 59 190 0.76 exonic ANKRD36B AU nonsynonymous SNV NM_025190 exon39 c.A3125G p.Y1042C Pathogenic 2_98128228_G->A 2 98128228 98128228 G A snp 83.77 0/1 99 250 227 23 0.09 exonic ANKRD36B AU synonymous SNV NM_025190 exon39 c.C3093T p.S1031S Uncertain 2_98128234_T->C 2 98128234 98128234 T C snp 298.77 0/1 99 249 212 37 0.15 exonic ANKRD36B AU synonymous SNV NM_025190 exon39 c.A3087G p.R1029R Uncertain 2_98128256_C->T 2 98128256 98128256 C T snp 3285.77 0/1 99 245 53 192 0.78 exonic ANKRD36B AU nonsynonymous SNV NM_025190 exon39 c.G3065A p.R1022H Pathogenic 2_98128258_G->C 2 98128258 98128258 G C snp 3262.77 0/1 99 246 54 192 0.78 exonic ANKRD36B AU synonymous SNV NM_025190 exon39 c.C3063G p.L1021L Uncertain 2_98128262_G->A 2 98128262 98128262 G A snp 467.77 0/1 99 249 200 49 0.2 exonic rs770028177 ANKRD36B AU nonsynonymous SNV NM_025190 exon39 c.C3059T p.T1020M 0 0 Pathogenic 2_98128300_A->G 2 98128300 98128300 A G snp 1667.77 0/1 99 225 112 113 0.5 exonic ANKRD36B AU synonymous SNV NM_025190 exon39 c.T3021C p.Y1007Y Uncertain 2_98128313_G->A 2 98128313 98128313 G A snp 2063.77 0/1 99 212 61 151 0.71 exonic ANKRD36B AU nonsynonymous SNV NM_025190 exon39 c.C3008T p.T1003M Pathogenic 2_98128364_T->C 2 98128364 98128364 T C snp 449.77 0/1 99 85 26 59 0.69 exonic ANKRD36B AU nonsynonymous SNV NM_025190 exon39 c.A2957G p.H986R Pathogenic 2_98195213_T->C 2 98195213 98195213 T C snp 264.77 0/1 99 14 6 8 0.57 intronic rs13427163 ANKRD36B AU NM_025190 exon40 c.71864-155T>C 0.382588 0.3036 Uncertain 2_98196849_G->A 2 98196849 98196849 G A snp 157.77 0/1 99 23 15 8 0.35 intronic rs34131105 ANKRD36B AU NM_025190 exon41 c.73420-75G>A 0.297923 0.2331 Uncertain 2_98196859_T->G 2 98196859 98196859 T G snp 270.77 0/1 99 32 19 13 0.41 intronic rs35904593 ANKRD36B AU NM_025190 exon41 c.73420-65T>G 0.313299 0.2391 Uncertain 2_98205924_C->G 2 98205924 98205924 C G snp 497.77 0/1 99 31 13 18 0.58 intronic rs74177639 ANKRD36B AU NM_025190 exon44 c.82483-63C>G Uncertain 2_98206188_C->G 2 98206188 98206188 C G snp 1284.77 0/1 99 128 75 53 0.41 UTR5 rs1868445 ANKRD36B AU 0.376597 0.3006 0.573806 0.5283 0.3308 Uncertain 2_98206282_C->T 2 98206282 98206282 C T snp 189.77 0/1 99 14 7 7 0.5 UTR5 rs28415903 ANKRD36B AU 0.376797 0.3006 Uncertain 2_98206293_G->A 2 98206293 98206293 G A snp 107.77 0/1 64 6 2 4 0.67 UTR5 rs1814505 ANKRD36B AU 0.378794 0.3006 Uncertain 2_98273290_C->T 2 98273290 98273290 C T snp 761.77 0/1 99 55 23 32 0.58 UTR3 rs11547232 ACTR1B AU 0.301518 0.2401 0.485882 0.4708 0.3335 Uncertain 2_98273661_A->G 2 98273661 98273661 A G snp 547.77 0/1 99 55 30 25 0.45 splicing rs2290124 ACTR1B AU NM_005735 exon2 c.335+6A>G 0.531749 0.371 0.711210 0.6054 0.3809 Pathogenic 2_98274527_G->C 2 98274527 98274527 G C snp 3063.77 0/1 99 239 114 125 0.52 exonic rs1042705 ACTR1B AU synonymous SNV NM_005735 exon8 c.C804G p.V268V 0.532348 0.371 0.711595 0.6071 0.3881 Uncertain 2_98341195_C->T 2 98341195 98341195 C T snp 1173.77 0/1 99 97 46 51 0.53 intronic rs2289919 ZAP70 AR NM_001079 exon3 c.402+294C>T 0.163738 0.1438 0.1106 0.1359 Uncertain 2_98341728_C->G 2 98341728 98341728 C G snp 1158.77 0/1 99 123 71 52 0.42 intronic rs2289918 ZAP70 AR NM_001079 exon4 c.1216+13C>G 0.182508 0.1438 0.184530 0.1208 0.1542 CLINSIG=non-pathogenic;CLNDBN=not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000126353.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Uncertain 2_98351986_T->C 2 98351986 98351986 T C snp 282.77 0/1 99 17 8 9 0.53 intronic rs13002912 ZAP70 AR NM_207519 exon2 c.905+67T>C 0.463259 0.3502 Uncertain 2_98376990_A->- 2 98376990 98376990 A - indel 106.73 0/1 99 16 11 5 0.31 intronic rs3214760 TMEM131 AU NM_015348 exon4 c.3494-65delA 0.586062 0.2897 Uncertain 2_98377512_A->T 2 98377512 98377512 A T snp 328.77 0/1 99 19 9 10 0.53 intronic rs2044458 TMEM131 AU NM_015348 exon5 c.3816+135A>T 0.26857 0.1865 Uncertain 2_98408918_C->T 2 98408918 98408918 C T snp 1336.77 0/1 99 116 57 59 0.51 exonic rs75972274 TMEM131 AU nonsynonymous SNV NM_015348 exon31 c.G4075A p.D1359N 0.0325479 0.1409 0.000394 0.0140 0.1511 0.26 T 1.0 P -1.008 T 0.826 T 0.157 P Pathogenic 2_98427382_T->C 2 98427382 98427382 T C snp 83.77 0/1 28 4 1 3 0.75 intronic rs2278700 TMEM131 AU NM_015348 exon24 c.54029-208T>C 0.238618 0.1835 Uncertain 2_98449796_C->T 2 98449796 98449796 C T snp 322.78 1/1 24 14 0 14 1.0 intronic rs6721250 TMEM131 AU NM_015348 exon31 c.76266-31C>T 1 1 0.9999 1 Uncertain 2_98525107_T->C 2 98525107 98525107 T C snp 926.77 0/1 99 79 35 44 0.56 intronic rs1317178 TMEM131 AU NM_015348 exon39 c.151559-13T>C 0.594848 0.2907 0.813423 0.6678 0.3208 Uncertain 2_98611994_G->T 2 98611994 98611994 G T snp 446.77 0/1 99 53 28 25 0.47 exonic rs2279824 TMEM131 AU synonymous SNV NM_015348 exon1 c.C132A p.G44G 0.592053 0.2867 0.5748 0.4417 Uncertain 2_98795873_-->G 2 98795873 98795873 - G indel 6115.73 1/1 99 165 0 165 1.0 intronic rs11419620 VWA3B AR NM_144992 exon9 c.87923-1605insG 0.903554 0.9821 Uncertain 2_98796028_T->A 2 98796028 98796028 T A snp 99.28 1/1 9 3 0 3 1.0 intronic rs4241221 VWA3B AR NM_144992 exon9 c.87923-1450T>A 0.871406 0.9216 Uncertain 2_98804314_G->A 2 98804314 98804314 G A snp 522.77 1/1 39 17 0 17 1.0 intronic rs1466156 VWA3B AR NM_144992 exon10 c.94882-123G>A 0.937899 0.9841 Uncertain 2_98811075_A->G 2 98811075 98811075 A G snp 921.77 1/1 69 26 0 26 1.0 intronic rs7579916 VWA3B AR NM_144992 exon12 c.101400+120A>G 0.925919 0.9841 Uncertain 2_98833449_G->C 2 98833449 98833449 G C snp 210.84 1/1 18 6 0 6 1.0 intronic rs62156666 VWA3B AR NM_144992 exon14 c.124753-859G>C 0.744209 0.7758 0.6900 0.6220 Uncertain 2_98844575_A->G 2 98844575 98844575 A G snp 807.77 1/1 60 25 0 25 1.0 intronic rs7606220 VWA3B AR NM_144992 exon15 c.135109-89A>G 0.689297 0.7986 Uncertain 2_98844674_C->G 2 98844674 98844674 C G snp 3828.77 1/1 99 147 0 147 1.0 exonic rs7601049 VWA3B AR nonsynonymous SNV NM_144992 exon15 c.C2029G p.L677V 0.689097 0.7986 0.620675 0.6320 0.7860 0.85 T 0.002 P -0.975 T 0.319 T 0.041 T Pathogenic 2_98846405_A->T 2 98846405 98846405 A T snp 892.77 1/1 66 24 0 24 1.0 intronic rs12712252 VWA3B AR NM_144992 exon16 c.136957-107A>T 0.928115 0.9782 Uncertain 2_98853173_G->A 2 98853173 98853173 G A snp 5937.77 1/1 99 218 0 218 1.0 exonic rs11889349 VWA3B AR nonsynonymous SNV NM_144992 exon19 c.G2653A p.V885M 0.664137 0.7976 0.566554 0.5822 0.7858 0.21 T 0.0 P -1.002 T 0.827 T 0.169 P Pathogenic 2_98853364_C->A 2 98853364 98853364 C A snp 425.77 1/1 33 11 0 11 1.0 intronic rs13033263 VWA3B AR NM_144992 exon19 c.143638+171C>A 0.688898 0.7986 Uncertain 2_98853373_G->T 2 98853373 98853373 G T snp 349.78 1/1 27 9 0 9 1.0 intronic rs13013876 VWA3B AR NM_144992 exon19 c.143638+180G>T 0.710064 0.8075 Uncertain 2_98862097_A->G 2 98862097 98862097 A G snp 3545.77 1/1 99 124 0 124 1.0 intronic rs4851121 VWA3B AR NM_144992 exon20 c.157225-4683A>G 0.817093 0.8065 0.8657 0.7772 Uncertain 2_98872662_-->T 2 98872662 98872662 - T indel 920.73 0/1 46 68 7 61 0.9 intronic rs113487988 VWA3B AR NM_144992 exon21 c.163082+25insT 0.682508 0.7302 0.572253 0.5176 0.5320 Uncertain 2_98928494_G->A 2 98928494 98928494 G A snp 4781.77 1/1 99 152 0 152 1.0 exonic rs7587534 VWA3B AR nonsynonymous SNV NM_144992 exon27 c.G3734A p.R1245K 0.992013 1 0.968441 0.9727 1 1 T 0.000 P -0.943 T 0.0 T 0.0 T Pathogenic 2_98994641_G->A 2 98994641 98994641 G A snp 2287.77 1/1 99 78 0 78 1.0 intronic rs4146045 CNGA3 AR NM_001298 exon3 c.7825+378G>A 0.203674 0.5685 0.1119 0.5444 0.25 T 0.0 P -0.946 T 0.0 T 0.0 T Uncertain 2_99149946_G->A 2 99149946 99149946 G A snp 3769.77 1/1 99 133 0 133 1.0 exonic rs2278211 INPP4A AU synonymous SNV NM_001134224 exon5 c.G258A p.T86T 0.230431 0.2956 0.213077 0.2492 0.2874 Uncertain 2_99154229_C->T 2 99154229 99154229 C T snp 861.77 1/1 63 31 0 31 1.0 intronic rs2278208 INPP4A AU NM_001566 exon8 c.17814-96C>T 0.246006 0.2897 Uncertain 2_99160509_CA->- 2 99160509 99160510 CA - indel 1213.73 1/1 93 46 0 46 1.0 intronic rs3217304 INPP4A AU NM_001566 exon11 c.23959+39_23959+40delCA 0.3432 0.3893 Uncertain 2_99163261_T->A 2 99163261 99163261 T A snp 1329.77 1/1 96 44 0 44 1.0 intronic rs2278207 INPP4A AU NM_001566 exon13 c.26646+104T>A 0.246206 0.2937 Uncertain 2_99168953_T->C 2 99168953 99168953 T C snp 56.74 1/1 6 2 0 2 1.0 intronic rs1181562 INPP4A AU NM_001566 exon15 c.32737-295T>C 0.991214 1 Uncertain 2_99172244_A->G 2 99172244 99172244 A G snp 4540.77 1/1 99 173 3 170 0.98 exonic rs2278206 INPP4A AU nonsynonymous SNV NM_001134224 exon17 c.A1810G p.T604A 0.284345 0.3155 0.253176 0.3138 0.3941 0.992 P -0.910 T 0.0 T 0.0 T ID=CM084964;DIS=Atopic asthma, reduced risk, association with;TAG=DFP;PUB=18187694 DFP Pathogenic 2_99181316_T->- 2 99181316 99181316 T - indel 4861.73 1/1 99 110 0 110 1.0 intronic rs3214545 INPP4A AU NM_001566 exon20 c.44715+90delT 0.243211 0.2937 Uncertain 2_99193496_C->T 2 99193496 99193496 C T snp 3161.77 1/1 99 121 0 121 1.0 exonic rs2230388 INPP4A AU synonymous SNV NM_001134224 exon25 c.C2691T p.S897S 0.25639 0.2937 0.228700 0.2590 0.2973 Uncertain 2_99219071_T->C 2 99219071 99219071 T C snp 125.03 1/1 12 4 0 4 1.0 intronic rs7585747 COA5 AR NM_001008215 exon2 c.3356-1499T>C 0.286741 0.3135 0.2762 0.3167 0.0 P Uncertain 2_99219206_T->A 2 99219206 99219206 T A snp 439.77 1/1 33 14 0 14 1.0 intronic rs7585939 COA5 AR NM_001008215 exon2 c.3356-1364T>A 0.286542 0.3135 Uncertain 2_99220707_T->C 2 99220707 99220707 T C snp 951.77 1/1 69 33 0 33 1.0 intronic rs4851144 COA5 AR NM_001008215 exon2 c.3440+53T>C 0.255192 0.2937 0.232472 Uncertain 2_99224998_C->G 2 99224998 99224998 C G snp 2595.77 1/1 99 82 0 82 1.0 upstream rs17034241 COA5 AR 0.267173 0.2946 Uncertain 2_99226173_T->A 2 99226173 99226173 T A snp 1683.77 1/1 99 59 0 59 1.0 intronic rs1062847 UNC50 AU 0.285743 0.3125 0.262494 0.2688 0.3108 0 D 1.000 P -1.001 T Uncertain 2_99234601_T->A 2 99234601 99234601 T A snp 398.77 0/1 99 40 21 19 0.47 intronic rs113829787 UNC50 AU NM_014044 exon6 c.8408-29T>A 0.144569 0.1875 0.0195 0.0243 Uncertain 2_99234601_-->A 2 99234601 99234601 - A indel 1250.73 1/1 99 40 0 40 1.0 intronic rs1044918 UNC50 AU NM_014044 exon6 c.8408-29insA 0.096094 0.0905 0.2112 Uncertain 2_99237792_C->T 2 99237792 99237792 C T snp 156.77 0/1 99 8 3 5 0.63 UTR3 rs11892744 MGAT4A AU 0.242612 0.2917 Uncertain 2_99251482_G->C 2 99251482 99251482 G C snp 264.77 0/1 99 16 8 8 0.5 intronic rs3731655 MGAT4A AU NM_001160154 exon3 c.13791-202G>C 0.0199681 0.0208 Uncertain 2_99256571_T->A 2 99256571 99256571 T A snp 791.77 0/1 99 93 57 36 0.39 intronic rs74450669 MGAT4A AU NM_001160154 exon6 c.18690-12T>A 0.0135783 0.0208 0.005075 0.0069 0.0145 Uncertain 2_99271712_T->C 2 99271712 99271712 T C snp 390.77 0/1 99 18 6 12 0.67 intronic rs7557647 MGAT4A AU NM_001160154 exon9 c.34014-195T>C 0.507987 0.5427 Uncertain 2_99272057_T->C 2 99272057 99272057 T C snp 79.77 0/1 99 8 4 4 0.5 intronic rs3754870 MGAT4A AU NM_001160154 exon9 c.34090+74T>C 0.665935 0.6369 Uncertain 2_99274653_T->C 2 99274653 99274653 T C snp 321.77 0/1 99 40 23 17 0.42 intronic rs2271670 MGAT4A AU NM_001160154 exon11 c.36787-27T>C 0.658746 0.6369 0.572510 0.5070 0.6360 Uncertain 2_99279354_A->G 2 99279354 99279354 A G snp 54.74 1/1 6 2 0 2 1.0 intronic rs1028144 MGAT4A AU NM_001160154 exon12 c.41615-154A>G 0.674121 0.6379 Uncertain 2_99513953_G->A 2 99513953 99513953 G A snp 428.77 0/1 99 53 33 20 0.38 intronic rs79627254 KIAA1211L AU NM_207362 exon10 c.141406-38447G>A 0.00359425 0.0179 Uncertain 2_99725223_A->G 2 99725223 99725223 A G snp 446.77 1/1 33 15 0 15 1.0 intronic rs6542864 TSGA10 AU NM_025244 exon15 c.110636-72A>G 0.620407 0.87 Uncertain 2_99725479_-->T 2 99725479 99725479 - T indel 1186.73 1/1 87 29 0 29 1.0 intronic rs11396964 TSGA10 AU NM_025244 exon15 c.110795+25insT 0.611422 0.87 0.578153 0.6313 0.8830 Uncertain 2_99725575_T->C 2 99725575 99725575 T C snp 88.28 1/1 9 3 0 3 1.0 intronic rs6733285 TSGA10 AU NM_025244 exon15 c.110795+121T>C 0.495008 0.6617 Uncertain 2_99726043_A->G 2 99726043 99726043 A G snp 586.77 1/1 45 17 0 17 1.0 intronic rs6733624 TSGA10 AU NM_025244 exon16 c.111316+68A>G 1 1 Uncertain 2_99743419_G->A 2 99743419 99743419 G A snp 258.8 1/1 21 7 0 7 1.0 intronic rs13008171 TSGA10 AU NM_025244 exon20 c.128851-91G>A 0.496805 0.6617 Uncertain 2_99757696_T->C 2 99757696 99757696 T C snp 661.77 0/1 99 74 42 32 0.43 intronic rs76474684 TSGA10 AU NM_182911 exon20 c.143231-194T>C 0.150958 0.2381 Uncertain 2_99771268_G->C 2 99771268 99771268 G C snp 337.78 1/1 27 9 0 9 1.0 upstream rs2516832 LIPT1 AR 0.61222 0.87 Uncertain 2_99771272_C->T 2 99771272 99771272 C T snp 387.77 1/1 30 10 0 10 1.0 upstream rs2632261 LIPT1 AR 0.645767 0.87 Uncertain 2_99771533_C->T 2 99771533 99771533 C T snp 3077.77 1/1 99 118 0 118 1.0 intronic rs2516834 LIPT1 AR 0.605431 0.8681 0.6360 0.8258 Uncertain 2_99771590_G->T 2 99771590 99771590 G T snp 1559.77 1/1 99 57 1 56 0.98 intronic rs2632260 LIPT1 AR 0.605431 0.8681 Uncertain 2_99778985_T->C 2 99778985 99778985 T C snp 6873.77 1/1 99 249 0 249 1.0 exonic rs2632277 LIPT1 AR synonymous SNV NM_145199 exon2 c.T565C p.L189L 0.594848 0.8681 0.559050 0.6127 0.8751 Uncertain 2_99779131_T->C 2 99779131 99779131 T C snp 7276.77 1/1 99 250 0 250 1.0 exonic rs2516835 LIPT1 AR synonymous SNV NM_145199 exon2 c.T711C p.A237A 0.496805 0.6617 0.504921 0.5611 0.6649 Uncertain 2_99802820_A->G 2 99802820 99802820 A G snp 569.77 1/1 48 20 0 20 1.0 intronic rs6757661 MRPL30 AU NM_145212 exon2 c.51+103A>G 0.609225 0.869 Uncertain 2_99804642_T->C 2 99804642 99804642 T C snp 1189.77 1/1 84 45 0 45 1.0 exonic rs10865030 MRPL30 AU synonymous SNV NM_145212 exon3 c.T54C p.T18T 0.825479 0.9534 0.834692 0.8641 0.9700 Uncertain 2_99811894_C->T 2 99811894 99811894 C T snp 1396.77 1/1 99 40 0 40 1.0 intronic rs7605843 MRPL30 AU NM_145212 exon6 c.9369-141C>T 0.634585 0.869 Uncertain 2_99812070_G->A 2 99812070 99812070 G A snp 4174.77 1/1 99 147 0 147 1.0 exonic rs1044575 MRPL30 AU nonsynonymous SNV NM_145212 exon6 c.G388A p.A130T 0.64397 0.869 0.613563 0.6366 0.8820 1 T 0.000 P -1.002 T 0.0 T 0.0 T Pathogenic 2_99912308_A->- 2 99912308 99912308 A - indel 101.73 0/1 99 13 4 9 0.69 intronic rs11289179 LYG1 AU NM_174898 exon5 c.11310+143delA 0.417732 0.6349 Uncertain 2_99918077_A->G 2 99918077 99918077 A G snp 38.74 1/1 6 3 0 3 1.0 upstream rs74177686 LYG1 AU 0.824481 0.9484 Uncertain 2_99918180_-->AA 2 99918180 99918180 - AA indel 334.73 0/1 99 25 11 14 0.56 upstream rs10688800 LYG1 AU 0.40595 0.63 Uncertain 2_99923088_T->C 2 99923088 99923088 T C snp 237.8 1/1 21 7 0 7 1.0 intergenic rs13003899 LYG1 AU 0.810703 0.9444 Uncertain 2_99938301_C->T 2 99938301 99938301 C T snp 136.03 1/1 12 4 0 4 1.0 intronic rs13017871 TXNDC9 AU NM_005783 exon2 c.2273-116C>T 0.41873 0.6379 Uncertain 2_99938942_A->G 2 99938942 99938942 A G snp 306.77 0/1 99 35 22 13 0.37 intronic rs12464785 TXNDC9 AU NM_005783 exon2 c.2528+270A>G 0.407947 0.3115 Uncertain 2_99939031_A->G 2 99939031 99939031 A G snp 1025.77 0/1 99 108 60 48 0.44 intronic rs17022564 TXNDC9 AU NM_005783 exon2 c.2528+359A>G 0.407947 0.3115 0.3707 0.3452 Uncertain 2_99954637_T->- 2 99954637 99954637 T - indel 222.74 1/1 25 9 0 9 1.0 intronic rs11326784 EIF5B AU NM_015904 exon1 c.35+585delT 0.820088 0.9484 Uncertain 2_99954735_C->A 2 99954735 99954735 C A snp 1068.77 0/1 99 84 42 42 0.5 intronic rs4850901 EIF5B AU NM_015904 exon1 c.35+683C>A 0.41893 0.6399 0.5104 0.6742 Uncertain 2_99978048_G->A 2 99978048 99978048 G A snp 328.77 0/1 99 53 38 15 0.28 exonic rs12233086 EIF5B AU synonymous SNV NM_015904 exon4 c.G684A p.V228V 0.169329 0.25 0.132050 0.1547 0.2540 Uncertain 2_99992784_A->G 2 99992784 99992784 A G snp 37.77 0/1 66 4 2 2 0.5 intronic rs7558062 EIF5B AU NM_015904 exon10 c.38792-25A>G 0.407947 0.3115 0.5203 0.4193 Uncertain 2_99992822_A->C 2 99992822 99992822 A C snp 191.77 0/1 99 17 8 9 0.53 exonic rs7558074 EIF5B AU nonsynonymous SNV NM_015904 exon10 c.A1565C p.K522T 0.591853 0.3671 0.628784 0.6437 0.5035 0.002 P -1.004 T 0.0 T 0.0 T Pathogenic 2_99995459_T->- 2 99995459 99995459 T - indel 62.73 0/1 77 11 5 6 0.55 intronic rs200706463 EIF5B AU NM_015904 exon11 c.41464-22delT 0.500599 0.4018 0.4996 0.4715 Uncertain 2_99995804_T->C 2 99995804 99995804 T C snp 2465.77 0/1 99 214 110 104 0.49 exonic rs1376443 EIF5B AU synonymous SNV NM_015904 exon12 c.T1974C p.D658D 0.603834 0.3681 0.628378 0.5973 0.3690 Uncertain 2_99998561_C->T 2 99998561 99998561 C T snp 87.77 0/1 99 30 23 7 0.23 intronic rs2290256 EIF5B AU NM_015904 exon13 c.44604-60C>T 0.589856 0.3671 0.603592 Uncertain 2_100006620_G->T 2 100006620 100006620 G T snp 1571.77 0/1 99 106 44 62 0.58 intronic rs10187843 EIF5B AU NM_015904 exon16 c.52664-61G>T 0.590056 0.3671 Uncertain 2_100010685_A->G 2 100010685 100010685 A G snp 756.77 0/1 99 50 22 28 0.56 intronic rs2242036 EIF5B AU NM_015904 exon19 c.56712-44A>G 0.169129 0.25 0.131778 0.1575 0.2530 Uncertain 2_100019496_A->G 2 100019496 100019496 A G snp 714.77 0/1 99 83 52 31 0.37 exonic rs2305354 REV1 AU synonymous SNV NM_016316 exon20 c.T3240C p.I1080I 0.588658 0.3681 0.613179 0.5797 0.3702 Uncertain 2_100019613_G->- 2 100019613 100019613 G - indel 263.73 0/1 99 27 18 9 0.33 intronic rs3087397 REV1 AU NM_001037872 exon4 c.1866+44delG 0.396166 0.3115 0.413118 0.4018 0.3598 Uncertain 2_100021184_A->G 2 100021184 100021184 A G snp 833.77 0/1 99 86 52 34 0.4 intronic rs2290261 REV1 AU NM_001037872 exon6 c.3437+44A>G 0.396565 0.3115 0.413501 0.4230 0.3240 Uncertain 2_100022270_G->A 2 100022270 100022270 G A snp 43.77 0/1 72 4 2 2 0.5 intronic rs1053544 REV1 AU NM_001037872 exon7 c.4668-101G>A 0.396366 0.3115 Uncertain 2_100022772_T->C 2 100022772 100022772 T C snp 1271.77 0/1 99 132 76 56 0.42 intronic rs717454 REV1 AU NM_001037872 exon8 c.5083-14T>C 0.396366 0.3115 0.413963 0.4276 0.3211 Uncertain 2_100055506_A->G 2 100055506 100055506 A G snp 1228.77 0/1 99 96 51 45 0.47 exonic rs3087386 REV1 AU nonsynonymous SNV NM_016316 exon6 c.T770C p.F257S 0.580272 0.3611 0.601492 0.5755 0.3638 0.78 T 0.0 P -0.979 T 0.0 T 0.0 T ID=CM058422;DIS=Squamous cell carcinoma, association with;TAG=DP;PUB=15609317 DP Pathogenic 2_100068069_T->C 2 100068069 100068069 T C snp 236.77 0/1 99 20 8 12 0.6 intronic rs4851206 REV1 AU NM_001037872 exon20 c.48263+2103T>C 0.400359 0.3085 Uncertain 2_100081323_C->T 2 100081323 100081323 C T snp 1624.77 0/1 99 148 76 72 0.49 intronic rs28369943 REV1 AU NM_001037872 exon22 c.63680-60C>T 0.586661 0.3621 0.598336 Uncertain 2_100199386_G->T 2 100199386 100199386 G T snp 1247.77 0/1 99 119 66 53 0.45 exonic rs117712488 AFF3 AU nonsynonymous SNV NM_002285 exon16 c.C2667A p.H889Q 0.0081869 0.0387 0.000384 0.0036 0.0480 0.62 T 0.975 D -0.868 T 1.0 D 0.996 D Pathogenic 2_100210335_GGCTGA->- 2 100210335 100210340 GGCTGA - indel 671.73 0/1 99 36 22 14 0.39 exonic rs374209646 AFF3 AU nonframeshift deletion NM_002285 exon14 c.1783_1788del p.595_596del 0.023311 Uncertain 2_100210342_G->C 2 100210342 100210342 G C snp 271.77 0/1 99 32 22 10 0.31 exonic rs202089462 AFF3 AU nonsynonymous SNV NM_002285 exon14 c.C1781G p.T594S 0.61 T 0.507 D -0.754 T 0.505 P 0.207 P Pathogenic 2_100218080_G->A 2 100218080 100218080 G A snp 189.77 0/1 99 13 4 9 0.69 exonic rs4851214 AFF3 AU synonymous SNV NM_002285 exon13 c.C1188T p.A396A 0.239816 0.4038 0.198100 0.3073 0.4250 Uncertain 2_100266225_C->A 2 100266225 100266225 C A snp 807.77 0/1 99 90 53 37 0.41 intronic rs76822822 AFF3 AU NM_002285 exon13 c.98193+97C>A 0.0229633 0.0863 Uncertain 2_100288931_G->A 2 100288931 100288931 G A snp 3958.77 1/1 99 137 0 137 1.0 intronic rs4851222 AFF3 AU NM_002285 exon14 c.121064-68G>A 0.599241 0.6538 0.546868 Uncertain 2_100343557_C->T 2 100343557 100343557 C T snp 4489.77 1/1 99 156 0 156 1.0 exonic rs4851223 AFF3 AU nonsynonymous SNV NM_002285 exon10 c.G1073A p.S358N 1 1 1.0000 1 1 T 0.0 P -0.926 T 0.0 T 0.0 T Pathogenic 2_100454085_T->A 2 100454085 100454085 T A snp 1196.77 0/1 99 99 53 46 0.46 intronic rs1864273 AFF3 AU NM_002285 exon18 c.286051+99T>A 0.147963 0.1776 Uncertain 2_100906578_C->T 2 100906578 100906578 C T snp 50.74 1/1 6 2 0 2 1.0 intronic rs7599212 LONRF2 AU NM_198461 exon3 c.5960-141C>T 0.455072 0.4772 Uncertain 2_100910578_C->T 2 100910578 100910578 C T snp 768.77 1/1 57 26 0 26 1.0 intronic rs4850925 LONRF2 AU NM_198461 exon4 c.9931-112C>T 0.373003 0.4593 Uncertain 2_100915629_T->C 2 100915629 100915629 T C snp 2305.77 1/1 99 79 0 79 1.0 intronic rs4851286 LONRF2 AU NM_198461 exon7 c.14928-58T>C 0.739617 0.9405 Uncertain 2_100915772_A->G 2 100915772 100915772 A G snp 2545.77 1/1 99 92 0 92 1.0 exonic rs4851287 LONRF2 AU nonsynonymous SNV NM_198461 exon6 c.T1277C p.L426P 0.771765 0.9405 0.708135 0.6918 0.9539 0.3 T 0.000 P -0.879 T 0.0 T 0.0 T Pathogenic 2_100916051_T->C 2 100916051 100916051 T C snp 50.74 1/1 6 2 0 2 1.0 intronic rs2033749 LONRF2 AU NM_198461 exon8 c.15419-127T>C 0.771965 0.9405 Uncertain 2_100916306_A->G 2 100916306 100916306 A G snp 2538.77 1/1 99 98 0 98 1.0 exonic rs2033748 LONRF2 AU synonymous SNV NM_198461 exon5 c.T1140C p.F380F 0.771366 0.9405 0.708288 0.6885 0.9571 Uncertain 2_100917109_C->T 2 100917109 100917109 C T snp 3028.77 0/1 99 244 112 132 0.54 exonic rs13006224 LONRF2 AU synonymous SNV NM_198461 exon4 c.G1062A p.S354S 0.378594 0.7252 0.358757 0.4570 0.7203 Uncertain 2_100919608_T->A 2 100919608 100919608 T A snp 885.77 0/1 99 73 39 34 0.47 intronic rs13415850 LONRF2 AU NM_198461 exon10 c.18746+103T>A 0.013778 0.0526 Uncertain 2_100925439_G->A 2 100925439 100925439 G A snp 113.77 0/1 99 9 5 4 0.44 intronic rs11693424 LONRF2 AU NM_198461 exon11 c.24809-129G>A 0.451877 0.7232 Uncertain 2_100925803_A->G 2 100925803 100925803 A G snp 167.9 1/1 15 6 0 6 1.0 intronic rs10195793 LONRF2 AU NM_198461 exon11 c.24928+116A>G 0.529153 0.7728 Uncertain 2_100938226_G->C 2 100938226 100938226 G C snp 180.9 1/1 15 6 0 6 1.0 exonic rs74177694 LONRF2 AU nonsynonymous SNV NM_198461 exon1 c.C330G p.D110E 0.41234 0.7768 0 . 1 T 0.005 P -0.936 T 0.0 T 0.0 T Pathogenic 2_100938241_G->A 2 100938241 100938241 G A snp 182.9 1/1 15 6 0 6 1.0 exonic rs192225848 LONRF2 AU synonymous SNV NM_198461 exon1 c.C315T p.A105A 0.361621 0.7728 0.75 1 Uncertain 2_100938328_T->C 2 100938328 100938328 T C snp 192.9 1/1 15 9 0 9 1.0 exonic rs74177695 LONRF2 AU synonymous SNV NM_198461 exon1 c.A228G p.E76E 0.41254 0.7768 0.4 . Uncertain 2_100938481_C->G 2 100938481 100938481 C G snp 110.77 0/1 99 16 10 6 0.38 exonic rs74177696 LONRF2 AU nonsynonymous SNV NM_198461 exon1 c.G75C p.Q25H 0.394768 0.7212 0.5275 0.7269 0.11 T 0.000 P -0.916 T 0.697 T 0.146 P Pathogenic 2_100986964_A->C 2 100986964 100986964 A C snp 1618.77 1/1 99 53 0 53 1.0 intergenic rs1437971 LONRF2 AU 0.829473 0.9385 0.8521 0.9831 Uncertain 2_101009600_G->A 2 101009600 101009600 G A snp 475.77 0/1 99 26 10 16 0.62 UTR3 rs1530030 CHST10 AU 0.38778 0.7183 Uncertain 2_101009668_A->G 2 101009668 101009668 A G snp 1244.77 0/1 99 114 60 54 0.47 UTR3 rs4149521 CHST10 AU 0.0113818 0.0556 0.0048 0.0612 Uncertain 2_101009908_G->A 2 101009908 101009908 G A snp 2088.77 0/1 99 163 80 83 0.51 exonic rs3748934 CHST10 AU synonymous SNV NM_004854 exon7 c.C870T p.A290A 0.0113818 0.0536 0.001461 0.0036 0.0440 Uncertain 2_101010082_G->C 2 101010082 101010082 G C snp 6314.77 1/1 99 209 0 209 1.0 exonic rs3748930 CHST10 AU synonymous SNV NM_004854 exon7 c.C696G p.T232T 0.605831 0.8065 0.539905 0.5427 0.7811 Uncertain 2_101011877_T->C 2 101011877 101011877 T C snp 938.77 0/1 99 74 33 41 0.55 intronic rs2241810 CHST10 AU NM_004854 exon2 c.2264-93T>C 0.387181 0.7183 Uncertain 2_101014247_C->A 2 101014247 101014247 C A snp 726.77 1/1 57 25 0 25 1.0 intronic rs4149517 CHST10 AU NM_004854 exon3 c.4663-122C>A 0.652756 0.8006 Uncertain 2_101014363_C->T 2 101014363 101014363 C T snp 2064.77 0/1 99 170 87 83 0.49 intronic rs2241809 CHST10 AU NM_004854 exon3 c.4663-6C>T 0.367013 0.7093 0.356451 0.4613 0.7039 Uncertain 2_101019031_G->A 2 101019031 101019031 G A snp 621.77 0/1 99 40 13 27 0.68 exonic rs1465829 CHST10 AU synonymous SNV NM_004854 exon4 c.C187T p.L63L 0.014976 0.0536 0.005536 0.0049 0.0441 Uncertain 2_101022886_C->T 2 101022886 101022886 C T snp 595.77 0/1 99 46 28 18 0.39 intronic rs4149512 CHST10 AU NM_004854 exon5 c.13331-151C>T 0.38778 0.7183 Uncertain 2_101022963_A->G 2 101022963 101022963 A G snp 2429.77 0/1 99 219 120 99 0.45 intronic rs7571659 CHST10 AU NM_004854 exon5 c.13331-74A>G 0.219848 0.0883 Uncertain 2_101031561_G->T 2 101031561 101031561 G T snp 1080.77 0/1 99 92 50 42 0.46 UTR5 rs3828193 CHST10 AU 0.362819 0.6845 0.3904 0.6626 0.31 T 0.0 P -0.932 T Uncertain 2_101096960_C->T 2 101096960 101096960 C T snp 1255.77 1/1 90 47 0 47 1.0 exonic rs1519654 NMS AU synonymous SNV NM_001011717 exon7 c.C339T p.G113G 0.803714 1 0.613332 0.6384 0.9978 Uncertain 2_101126124_T->A 2 101126124 101126124 T A snp 2134.77 1/1 99 71 0 71 1.0 intergenic rs1829479 NMS AU 0.970847 1 0.934903 0.9386 1 Uncertain 2_101179341_A->G 2 101179341 101179341 A G snp 561.77 1/1 42 16 0 16 1.0 upstream rs2970988 PDCL3 AU 0.833466 1 Uncertain 2_101179342_G->A 2 101179342 101179342 G A snp 544.77 1/1 42 16 0 16 1.0 upstream rs2309848 PDCL3 AU 0.628794 0.9772 Uncertain 2_101186088_C->T 2 101186088 101186088 C T snp 2178.77 1/1 99 71 0 71 1.0 exonic rs1052117 PDCL3 AU synonymous SNV NM_024065 exon4 c.C273T p.F91F 0.653155 0.9772 0.482080 0.5129 0.9747 1.0 P -1.023 T Likely benign 2_101188373_-->CTGTGTATGAGTGA 2 101188373 101188373 - CTGTGTATGAGTGA indel 11461.7 1/1 99 94 0 94 1.0 intronic rs138885839 PDCL3 AU NM_024065 exon5 c.8731+113insCTGTGTATGAGTGA 0.645767 0.9772 Uncertain 2_101192883_G->A 2 101192883 101192883 G A snp 209.77 0/1 99 109 91 18 0.17 exonic rs4618078 PDCL3 AU synonymous SNV NM_024065 exon6 c.G645A p.P215P 0.023451 0.0706 0.0651 Uncertain 2_101437561_G->A 2 101437561 101437561 G A snp 4875.77 1/1 99 174 0 174 1.0 intronic rs6542989 NPAS2 AU 0.415535 0.5169 0.2859 0.5061 1 T 0.0 P -0.998 T 0.0 T 0.0 T Uncertain 2_101437601_C->G 2 101437601 101437601 C G snp 4748.77 1/1 99 183 0 183 1.0 intronic rs6542990 NPAS2 AU 0.415535 0.5169 0.2847 0.5041 1 T 0.0 P -0.993 T 0.005 T 0.003 T Uncertain 2_101437762_A->G 2 101437762 101437762 A G snp 1085.77 1/1 81 34 0 34 1.0 intronic rs13390078 NPAS2 AU 0.437899 0.5972 Uncertain 2_101521174_TT->- 2 101521174 101521175 TT - indel 232.73 0/1 99 23 8 15 0.65 intronic rs57350721 NPAS2 AU 0.267971 0.2808 0.3175 0.3133 Uncertain 2_101541798_C->T 2 101541798 101541798 C T snp 999.77 1/1 75 32 0 32 1.0 intronic rs356651 NPAS2 AU NM_002518 exon3 c.20540+42C>T 0.912939 1 0.850838 0.8695 0.9991 Uncertain 2_101581246_C->T 2 101581246 101581246 C T snp 2429.77 1/1 99 69 0 69 1.0 intronic rs7581886 NPAS2 AU NM_002518 exon9 c.60106-76C>T 0.957069 0.999 Uncertain 2_101598494_T->C 2 101598494 101598494 T C snp 93.28 1/1 9 4 0 4 1.0 intronic rs6719037 NPAS2 AU NM_002518 exon16 c.77476-198T>C 0.991613 1 Uncertain 2_101609827_C->T 2 101609827 101609827 C T snp 1131.77 0/1 99 138 87 51 0.37 exonic rs9223 NPAS2 AU synonymous SNV NM_002518 exon20 c.C2130T p.T710T 0.252796 0.2192 0.246425 0.2990 0.2090 0.000 P -0.966 T Likely benign 2_101612051_G->A 2 101612051 101612051 G A snp 795.77 0/1 99 58 29 29 0.5 UTR3 rs2305158 NPAS2 AU 0.17492 0.126 0.217933 0.2253 0.1668 Uncertain 2_101619283_C->G 2 101619283 101619283 C G snp 4645.77 1/1 99 187 0 187 1.0 intronic rs2278724 RPL31 AU NM_001099693 exon2 c.107+13C>G 0.829673 0.7173 0.858604 0.8024 0.7340 Uncertain 2_101619321_T->C 2 101619321 101619321 T C snp 5445.77 1/1 99 217 0 217 1.0 intronic rs2278723 RPL31 AU NM_001099693 exon2 c.107+51T>C 0.536741 0.3274 0.636706 0.6196 0.3358 Uncertain 2_101620857_A->- 2 101620857 101620857 A - indel 1004.73 0/1 99 115 41 74 0.64 intronic rs34386800 RPL31 AU NM_001099693 exon3 c.1582+112delA 0.28155 0.2054 Uncertain 2_101622696_-->G 2 101622696 101622696 - G indel 1479.73 0/1 99 101 51 50 0.5 intronic rs34763346 RPL31 AU NM_000993 exon5 c.3648-115insG 0.153954 0.122 Uncertain 2_101622728_C->T 2 101622728 101622728 C T snp 1167.77 0/1 99 95 44 51 0.54 intronic rs10934 RPL31 AU NM_000993 exon5 c.3648-83C>T 0.236022 0.1667 0.242225 Uncertain 2_101624471_T->C 2 101624471 101624471 T C snp 6302.77 1/1 99 222 1 221 1.0 exonic rs746924 TBC1D8 AU nonsynonymous SNV NM_001102426 exon20 c.A3235G p.R1079G 0.514377 0.2946 0.620865 0.6101 0.3052 0.53 T 0.000 P -1.113 T 0.0 T 0.0 T Pathogenic 2_101627344_A->- 2 101627344 101627344 A - indel 250.73 0/1 85 25 8 17 0.68 intronic rs35511736 RPL31 AU NM_001099693 exon4 c.3722+4459delA 0.373602 0.2827 0.3427 0.2968 Uncertain 2_101627852_C->T 2 101627852 101627852 C T snp 583.77 0/1 99 48 26 22 0.46 intronic rs1062059 RPL31 AU NM_001099693 exon4 c.3722+4967C>T 0.153554 0.125 Uncertain 2_101635538_C->T 2 101635538 101635538 C T snp 741.77 0/1 99 55 30 25 0.45 UTR3 rs13007048 RPL31 AU 0.230032 0.1677 0.230247 0.2745 0.1536 Uncertain 2_101638888_A->G 2 101638888 101638888 A G snp 4812.77 1/1 99 171 0 171 1.0 exonic rs3739014 TBC1D8 AU synonymous SNV NM_001102426 exon16 c.T2571C p.D857D 0.526957 0.2946 0.638795 0.6097 0.3063 Uncertain 2_101644855_G->A 2 101644855 101644855 G A snp 2033.77 0/1 99 157 72 85 0.54 exonic rs11683877 TBC1D8 AU synonymous SNV NM_001102426 exon13 c.C2217T p.P739P 0.215256 0.1667 0.220372 0.2778 0.1580 Uncertain 2_101645031_G->A 2 101645031 101645031 G A snp 1371.77 0/1 99 83 38 45 0.54 intronic rs76060163 TBC1D8 AU NM_001102426 exon8 c.20612+137G>A 0.0413339 0.0883 Uncertain 2_101646144_G->A 2 101646144 101646144 G A snp 2608.77 0/1 99 234 122 112 0.48 exonic rs3739015 TBC1D8 AU synonymous SNV NM_001102426 exon12 c.C1986T p.S662S 0.161941 0.1518 0.188891 0.2015 0.1746 Uncertain 2_101646359_G->C 2 101646359 101646359 G C snp 643.77 0/1 99 45 20 25 0.56 intronic rs12472882 TBC1D8 AU NM_001102426 exon9 c.21956+121G>C 0.245008 0.1677 Uncertain 2_101652733_G->A 2 101652733 101652733 G A snp 381.77 0/1 99 41 26 15 0.37 intronic rs6705837 TBC1D8 AU NM_001102426 exon12 c.28348+103G>A 0.317093 0.4216 Uncertain 2_101652797_T->C 2 101652797 101652797 T C snp 262.8 1/1 21 7 0 7 1.0 intronic rs6543005 TBC1D8 AU NM_001102426 exon12 c.28348+167T>C 0.81889 0.7282 Uncertain 2_101656726_T->C 2 101656726 101656726 T C snp 1501.77 0/1 99 146 75 71 0.49 exonic rs2289953 TBC1D8 AU nonsynonymous SNV NM_001102426 exon6 c.A949G p.T317A 0.485623 0.3075 0.586789 0.5997 0.3201 0.56 T 0.0 P -0.907 T 0.0 T 0.0 T Pathogenic 2_101869588_G->T 2 101869588 101869588 G T snp 3774.77 1/1 99 139 0 139 1.0 exonic rs2272320 CNOT11 AU synonymous SNV NM_017546 exon1 c.G162T p.P54P 0.378794 0.5278 0.346568 0.5566 0.6202 Uncertain 2_101874442_C->T 2 101874442 101874442 C T snp 3921.77 1/1 99 141 0 141 1.0 intronic rs6757365 CNOT11 AU NM_017546 exon2 c.4991+25C>T 0.396765 0.5258 0.370829 0.4224 0.5175 Uncertain 2_101881549_A->- 2 101881549 101881549 A - indel 353.73 1/1 33 21 1 20 0.95 intronic rs376444821 CNOT11 AU NM_017546 exon4 c.12083+40delA 0.000599042 0.003 0.227799 0.0041 0.0063 Uncertain 2_101889306_A->G 2 101889306 101889306 A G snp 2576.77 1/1 99 89 0 89 1.0 downstream rs750783 SNORD89 AU 0.40635 0.5278 Uncertain 2_101898412_G->C 2 101898412 101898412 G C snp 2586.77 1/1 99 91 0 91 1.0 exonic rs13151 RNF149 AU nonsynonymous SNV NM_173647 exon6 c.C1068G p.D356E 0.846046 1 0.806320 0.8710 0.9988 0.63 T 0.0 P -1.053 T 0.0 T 0.0 T Pathogenic 2_101911385_A->G 2 101911385 101911385 A G snp 4052.77 1/1 99 143 0 143 1.0 intronic rs3828194 RNF149 AU NM_173647 exon6 c.17693-7A>G 0.404553 0.5278 0.377749 0.4265 0.5169 Uncertain 2_101967346_C->T 2 101967346 101967346 C T snp 4145.77 1/1 99 148 0 148 1.0 UTR3 rs6543032 CREG2 AU 0.666134 0.7698 0.661925 0.7442 0.7733 Uncertain 2_101971618_T->C 2 101971618 101971618 T C snp 2265.77 1/1 99 63 0 63 1.0 intronic rs6753727 CREG2 AU NM_153836 exon2 c.4330-96T>C 0.451278 0.6002 Uncertain 2_102018878_G->A 2 102018878 102018878 G A snp 1017.77 0/1 99 78 38 40 0.51 intronic rs11123876 RFX8 AU NM_001145664 exon2 c.4888-19G>A 0.28774 0.3165 0.3662 0.3729 Uncertain 2_102018908_A->G 2 102018908 102018908 A G snp 1319.77 0/1 99 97 49 48 0.49 exonic rs2175968 RFX8 AU nonsynonymous SNV NM_001145664 exon11 c.T1235C p.M412T 0.452476 0.4861 0.512265 0.4965 0.4595 1 T 0.000 P -0.941 T 0.0 T 0.0 T Pathogenic 2_102026879_A->T 2 102026879 102026879 A T snp 52.77 0/1 81 10 7 3 0.3 intronic rs72825067 RFX8 AU NM_001145664 exon4 c.13071-201A>T Uncertain 2_102029273_T->C 2 102029273 102029273 T C snp 592.77 0/1 70 27 5 22 0.81 intronic rs11689348 RFX8 AU NM_001145664 exon5 c.15367-103T>C 0.286342 0.3095 Uncertain 2_102029548_G->A 2 102029548 102029548 G A snp 1040.77 0/1 99 68 26 42 0.62 intronic rs1554070 RFX8 AU NM_001145664 exon5 c.15524+15G>A 0.220847 0.2143 0.224266 0.2747 0.2524 Uncertain 2_102031176_A->G 2 102031176 102031176 A G snp 1064.77 1/1 78 32 0 32 1.0 intronic rs4851434 RFX8 AU NM_001145664 exon6 c.17306-139A>G 0.937899 0.8829 Uncertain 2_102031489_C->G 2 102031489 102031489 C G snp 2425.77 1/1 99 87 0 87 1.0 intronic rs4851435 RFX8 AU NM_001145664 exon6 c.17365+115C>G 0.607228 0.7143 Uncertain 2_102033867_T->C 2 102033867 102033867 T C snp 54.74 1/1 6 2 0 2 1.0 intronic rs6761866 RFX8 AU NM_001145664 exon7 c.19986-128T>C 0.908147 0.8849 Uncertain 2_102035192_C->T 2 102035192 102035192 C T snp 422.77 1/1 33 13 0 13 1.0 intronic rs6709913 RFX8 AU NM_001145664 exon8 c.21303-120C>T 0.708666 0.8641 Uncertain 2_102038849_T->A 2 102038849 102038849 T A snp 6617.77 1/1 99 231 0 231 1.0 exonic rs4851436 RFX8 AU nonsynonymous SNV NM_001145664 exon3 c.A158T p.Q53L 0.901957 0.8819 0.947657 0.9750 0.8923 0.33 T 0.000 P -0.972 T 0.0 T 0.0 T Pathogenic 2_102045328_C->T 2 102045328 102045328 C T snp 519.77 0/1 99 34 16 18 0.53 intronic rs6543047 RFX8 AU NM_001145664 exon10 c.24925+6394C>T 0.408147 0.4315 Uncertain 2_102045709_C->T 2 102045709 102045709 C T snp 168.9 1/1 15 5 0 5 1.0 intronic rs6543048 RFX8 AU NM_001145664 exon10 c.24925+6775C>T 0.989617 0.9544 Uncertain 2_102066878_A->T 2 102066878 102066878 A T snp 102.77 0/1 99 10 6 4 0.4 intronic rs4851448 RFX8 AU NM_001145664 exon11 c.69229-16360A>T 0.696486 0.6696 Uncertain 2_102067083_T->C 2 102067083 102067083 T C snp 723.77 0/1 99 88 56 32 0.36 intronic rs7585228 RFX8 AU NM_001145664 exon11 c.69229-16155T>C 0.696086 0.6696 0.7912 0.6212 0.17 T 0.104 P -0.999 T Uncertain 2_102083183_T->C 2 102083183 102083183 T C snp 555.77 0/1 99 55 32 23 0.42 intronic rs4851455 RFX8 AU NM_001145664 exon11 c.69229-55T>C 0.523762 0.5188 0.567674 Uncertain 2_102314391_-->CCG 2 102314391 102314391 - CCG indel 391.75 1/1 24 8 0 8 1.0 UTR5 rs577276891 MAP4K4 AU 0.322684 0.4812 Uncertain 2_102314437_T->C 2 102314437 102314437 T C snp 1790.77 1/1 99 65 0 65 1.0 UTR5 rs13430711 MAP4K4 AU 0.784545 0.8006 Uncertain 2_102773999_C->T 2 102773999 102773999 C T snp 220.77 0/1 99 18 8 10 0.56 intronic rs2287048 IL1R1 AU 0.142971 0.2569 Uncertain 2_102774054_G->A 2 102774054 102774054 G A snp 448.77 0/1 99 40 17 23 0.57 intronic rs2287047 IL1R1 AU 0.423722 0.4286 Uncertain 2_102785158_G->T 2 102785158 102785158 G T snp 297.77 0/1 99 27 13 14 0.52 intronic rs3213735 IL1R1 AU NM_000877 exon7 c.10939+35G>T 0.347444 0.4653 0.132324 0.3188 0.4014 Uncertain 2_102788409_G->A 2 102788409 102788409 G A snp 2484.77 1/1 99 90 0 90 1.0 intronic rs2041747 IL1R1 AU NM_000877 exon8 c.14194+31G>A 0.987021 1 0.968245 0.9707 0.9986 Uncertain 2_102792760_A->G 2 102792760 102792760 A G snp 232.84 0/1 18 8 1 7 0.88 intronic rs3917318 IL1R1 AU NM_000877 exon12 c.18628-52A>G 0.371406 0.4802 Uncertain 2_102792785_T->G 2 102792785 102792785 T G snp 277.77 0/1 99 24 15 9 0.38 intronic rs112972404 IL1R1 AU NM_000877 exon12 c.18628-27T>G 0.0197684 0.0605 0.013861 0.0154 0.0554 Uncertain 2_102793246_A->G 2 102793246 102793246 A G snp 1985.77 0/1 99 142 60 82 0.58 UTR3 rs3917322 IL1R1 AU 0.0177716 0.0605 0.012148 0.0142 0.0538 Uncertain 2_102828389_C->T 2 102828389 102828389 C T snp 84.77 0/1 99 27 20 7 0.26 intronic rs199691223 IL1RL2 AU NM_003854 exon6 c.24232-170C>T 0.13778 0.2063 Uncertain 2_102851708_T->C 2 102851708 102851708 T C snp 449.77 0/1 99 30 10 20 0.67 exonic rs2302612 IL1RL2 AU nonsynonymous SNV NM_003854 exon11 c.T1649C p.L550P 0.317891 0.2857 0.292865 0.2488 0.2944 0.16 T 0.000 P -0.918 T 0.007 T 0.004 T ID=CM1311281;DIS=Lower sST2 levels, association with;TAG=DP;PUB=23999434 DP Pathogenic 2_102957644_C->T 2 102957644 102957644 C T snp 86.77 0/1 99 18 13 5 0.28 intronic rs376863401 IL1RL1 AU NM_001282408 exon4 c.652+356C>T 0.0026 0 Uncertain 2_103003550_C->A 2 103003550 103003550 C A snp 1089.77 0/1 99 91 43 48 0.53 intronic rs55944637 IL18R1 AU NM_001282399 exon8 c.13010+90C>A 0.0111821 0.0516 Uncertain 2_103059613_A->G 2 103059613 103059613 A G snp 3326.77 1/1 99 123 0 123 1.0 intronic rs1558651 IL18RAP AU NM_003853 exon8 c.19922-46A>G 1 1 0.999846 0.9999 1 Uncertain 2_103281417_A->C 2 103281417 103281417 A C snp 56.74 1/1 6 2 0 2 1.0 intronic rs11123944 SLC9A2 AU NM_003048 exon3 c.45251-141A>C 0.322883 0.4772 Uncertain 2_103281960_A->G 2 103281960 103281960 A G snp 41.74 1/1 6 2 0 2 1.0 intronic rs6543176 SLC9A2 AU NM_003048 exon3 c.45502+151A>G 0.999601 1 Uncertain 2_103300506_A->G 2 103300506 103300506 A G snp 2815.77 1/1 99 96 0 96 1.0 intronic rs6757258 SLC9A2 AU NM_003048 exon5 c.64285-86A>G 0.7498 0.8482 Uncertain 2_103348335_T->C 2 103348335 103348335 T C snp 116.77 0/1 99 10 6 4 0.4 intronic MFSD9 AU NM_032718 exon5 c.13902-445T>C Uncertain 2_103375056_T->G 2 103375056 103375056 T G snp 2741.77 1/1 99 102 0 102 1.0 intergenic rs2732838 MFSD9 AU 0.492013 0.4296 Uncertain 2_103378857_C->G 2 103378857 103378857 C G snp 4976.77 1/1 99 175 0 175 1.0 intronic rs2540298 TMEM182 AU NM_144632 exon1 c.132+49C>G 0.486621 0.4286 0.481701 0.4459 0.4332 Uncertain 2_103380998_C->G 2 103380998 103380998 C G snp 308.78 1/1 24 11 0 11 1.0 intronic rs2540296 TMEM182 AU NM_144632 exon3 c.2210+112C>G 0.249601 0.2242 Uncertain 2_103431404_T->C 2 103431404 103431404 T C snp 2463.77 1/1 99 94 0 94 1.0 exonic rs887987 TMEM182 AU nonsynonymous SNV NM_144632 exon5 c.T667C p.W223R 0.991613 1 0.975012 0.9765 0.9999 1 T 0.0 P -0.971 T 0.0 T 0.0 T Pathogenic 2_105472055_T->C 2 105472055 105472055 T C snp 263.8 1/1 21 10 0 10 1.0 exonic rs186512421 POU3F3 AU synonymous SNV NM_006236 exon1 c.T87C p.A29A 0.6008 0.9595 Uncertain 2_105654446_A->G 2 105654446 105654446 A G snp 36.78 0/1 27 3 1 2 0.67 ncRNA_intronic rs7587563 LOC102724691 AU 0.501398 0.6577 Uncertain 2_105654716_C->T 2 105654716 105654716 C T snp 1345.77 0/1 99 146 82 64 0.44 ncRNA_intronic rs3739160 LOC102724691 AU 0.529752 0.6577 0.463994 0.5003 0.6640 Uncertain 2_105654830_G->T 2 105654830 105654830 G T snp 252.77 0/1 99 23 14 9 0.39 ncRNA_intronic rs3739159 LOC102724691 AU 0.515775 0.6558 Uncertain 2_105709023_T->C 2 105709023 105709023 T C snp 2337.77 1/1 99 81 1 80 0.99 exonic rs6543282 MRPS9 AU synonymous SNV NM_182640 exon8 c.T816C p.S272S 0.983826 0.999 0.968399 0.9707 0.9999 Uncertain 2_105897261_C->T 2 105897261 105897261 C T snp 1070.77 1/1 81 39 0 39 1.0 intronic rs2679833 TGFBRAP1 AU NM_001142621 exon7 c.13341+81C>T 0.987021 1 Uncertain 2_106013169_C->T 2 106013169 106013169 C T snp 3148.77 0/1 99 245 123 122 0.5 intronic rs571689781 FHL2 AU NM_201555 exon7 c.35415+15C>T 0.00119808 0.006 0.0003 0.0038 Uncertain 2_106013216_T->C 2 106013216 106013216 T C snp 5989.77 1/1 99 191 0 191 1.0 intronic rs11891016 FHL2 AU NM_201555 exon7 c.35415+62T>C 0.700879 0.6577 Uncertain 2_106015194_G->C 2 106015194 106015194 G C snp 498.77 1/1 39 16 0 16 1.0 intronic rs60968240 FHL2 AU NM_201555 exon8 c.37559-104G>C 0.20647 0.1518 Uncertain 2_106471327_C->A 2 106471327 106471327 C A snp 460.77 1/1 36 13 0 13 1.0 intronic rs7580718 NCK2 AU 0.720048 0.6687 Uncertain 2_106471393_T->C 2 106471393 106471393 T C snp 2399.77 1/1 99 86 0 86 1.0 intronic rs6543345 NCK2 AU 0.953075 0.9841 Uncertain 2_106471825_-->A 2 106471825 106471825 - A indel 161.8 0/1 18 21 2 19 0.9 intronic rs3832068 NCK2 AU NM_003581 exon3 c.226+80insA 0.590056 0.6548 Uncertain 2_106682226_T->C 2 106682226 106682226 T C snp 453.77 0/1 99 37 17 20 0.54 exonic rs4271786 C2orf40 AU synonymous SNV NM_032411 exon1 c.T6C p.A2A 0.253994 0.2411 0.143343 0.3070 0.3165 Uncertain 2_106682235_C->G 2 106682235 106682235 C G snp 478.77 0/1 99 41 19 22 0.54 exonic rs4266035 C2orf40 AU synonymous SNV NM_032411 exon1 c.C15G p.P5P 0.230831 0.2391 0.3136 0.3352 Uncertain 2_106682317_A->G 2 106682317 106682317 A G snp 1081.77 0/1 99 91 43 48 0.53 intronic rs17032271 C2orf40 AU NM_032411 exon1 c.79+18A>G 0.0678914 0.1508 0.024357 0.0870 0.1865 Uncertain 2_106682365_T->G 2 106682365 106682365 T G snp 891.77 0/1 99 100 55 45 0.45 intronic rs4477942 C2orf40 AU NM_032411 exon1 c.79+66T>G 0.231829 0.2371 Uncertain 2_106690137_G->A 2 106690137 106690137 G A snp 417.77 1/1 33 11 0 11 1.0 intronic rs4851111 C2orf40 AU NM_032411 exon3 c.8121-204G>A 0.495607 0.623 Uncertain 2_106715342_G->A 2 106715342 106715342 G A snp 2483.77 ./1 99 87 1 86 0.99 intronic rs3820891 UXS1 AU NM_001253875 exon3 c.4748+113G>A 0.844449 0.8929 Uncertain 2_106715342_G->T 2 106715342 106715342 G T snp 2483.77 ./1 99 87 1 86 0.99 intronic rs3820891 UXS1 AU NM_001253875 exon3 c.4748+113G>T 0.124002 0.1071 Uncertain 2_106717274_A->G 2 106717274 106717274 A G snp 619.77 1/1 48 17 0 17 1.0 intronic rs3739136 UXS1 AU NM_001253875 exon4 c.7032-239A>G 0.716653 0.6052 Uncertain 2_106717656_G->A 2 106717656 106717656 G A snp 646.77 1/1 48 18 0 18 1.0 intronic rs10177888 UXS1 AU NM_001253875 exon4 c.7093+82G>A 0.716853 0.6052 Uncertain 2_106742139_C->T 2 106742139 106742139 C T snp 2847.77 1/1 99 115 0 115 1.0 splicing rs4851925 UXS1 AU NM_001253875 exon8 c.31654+4C>T 0.962859 1 0.963293 0.9879 1 Pathogenic 2_106742177_T->A 2 106742177 106742177 T A snp 2790.77 1/1 99 102 0 102 1.0 intronic rs3739137 UXS1 AU NM_001253875 exon8 c.31654+42T>A 0.753195 0.6468 0.863904 0.8654 0.6823 Uncertain 2_106780015_C->T 2 106780015 106780015 C T snp 736.77 1/1 54 25 0 25 1.0 intronic rs3910716 UXS1 AU NM_001253875 exon12 c.69641-107C>T 0.969249 1 Uncertain 2_106780055_-->TG 2 106780055 106780055 - TG indel 2179.73 1/1 99 40 0 40 1.0 intronic rs10631203 UXS1 AU NM_001253875 exon12 c.69641-67insTG 0.976880 Uncertain 2_106782398_C->G 2 106782398 106782398 C G snp 1031.77 1/1 75 32 0 32 1.0 intronic rs4851115 UXS1 AU NM_001253875 exon14 c.72030-113C>G 0.97484 1 Uncertain 2_106782719_A->C 2 106782719 106782719 A C snp 41.74 1/1 6 2 0 2 1.0 intronic rs6707767 UXS1 AU NM_001253875 exon14 c.72058+180A>C 0.974042 1 Uncertain 2_106810727_A->G 2 106810727 106810727 A G snp 3645.77 1/1 99 137 0 137 1.0 UTR5 rs7604916 UXS1 AU 0.97504 1 0.980283 0.9965 1 Uncertain 2_106810850_C->T 2 106810850 106810850 C T snp 42.77 0/1 31 3 1 2 0.67 upstream rs191214798 UXS1 AU 0.00299521 0.0149 Uncertain 2_106992952_A->G 2 106992952 106992952 A G snp 1968.77 1/1 99 83 0 83 1.0 intergenic rs4641931 UXS1 AU 0.69369 0.6498 Uncertain 2_106992963_-->G 2 106992963 106992963 - G indel 3618.73 1/1 99 81 0 81 1.0 intergenic rs11464214 UXS1 AU 0.871605 0.9167 Uncertain 2_106993024_G->A 2 106993024 106993024 G A snp 962.77 0/1 99 74 33 41 0.55 intergenic UXS1 AU Uncertain 2_107007467_G->A 2 107007467 107007467 G A snp 4818.77 1/1 99 202 2 200 0.99 ncRNA_exonic rs7575679 PLGLA AU 0.292931 0.7312 Uncertain 2_107107511_C->T 2 107107511 107107511 C T snp 4539.77 1/1 99 162 0 162 1.0 intergenic rs11124115 RGPD3 AU 0.353834 0.7927 Uncertain 2_107107567_G->C 2 107107567 107107567 G C snp 4110.77 1/1 99 148 0 148 1.0 intergenic rs2228021 RGPD3 AU 0.733427 0.9921 Uncertain 2_107107694_A->G 2 107107694 107107694 A G snp 2425.77 1/1 99 96 0 96 1.0 intergenic rs6543414 RGPD3 AU 0.985423 1 Uncertain 2_107107765_C->A 2 107107765 107107765 C A snp 1182.77 1/1 87 40 0 40 1.0 intergenic rs6543415 RGPD3 AU 0.984824 1 Uncertain 2_107112874_T->C 2 107112874 107112874 T C snp 110.03 1/1 12 4 0 4 1.0 intergenic rs6734823 RGPD3 AU 0.990815 1 Uncertain 2_107118896_T->C 2 107118896 107118896 T C snp 662.77 1/1 48 24 0 24 1.0 intergenic rs4340514 RGPD3 AU 0.968051 1 Uncertain 2_107119136_G->C 2 107119136 107119136 G C snp 821.77 1/1 60 26 2 24 0.92 intergenic rs4365459 RGPD3 AU 0.954673 0.997 Uncertain 2_107121040_-->A 2 107121040 107121040 - A indel 3846.73 1/1 99 134 1 133 0.99 intergenic rs146000492 RGPD3 AU 0.912141 0.8978 Uncertain 2_107429801_C->T 2 107429801 107429801 C T snp 165.28 0/1 9 8 1 7 0.88 intronic rs6739022 ST6GAL2 AU NM_001142352 exon1 c.83+121C>T 0.55012 0.4732 Uncertain 2_107446396_T->C 2 107446396 107446396 T C snp 414.77 1/1 33 11 0 11 1.0 intronic rs877693 ST6GAL2 AU NM_001142352 exon2 c.16924-125T>C 0.846645 0.9196 Uncertain 2_107446430_T->C 2 107446430 107446430 T C snp 1330.77 1/1 96 43 0 43 1.0 intronic rs935565 ST6GAL2 AU NM_001142352 exon2 c.16924-91T>C 0.907947 0.9196 Uncertain 2_107448988_C->T 2 107448988 107448988 C T snp 1473.77 0/1 99 101 41 60 0.59 intronic rs12623034 ST6GAL2 AU NM_001142352 exon3 c.19423-32C>T 0.182308 0.4901 0.058896 0.1324 0.4994 Uncertain 2_107450333_C->T 2 107450333 107450333 C T snp 37.77 0/1 66 4 2 2 0.5 intronic rs11124132 ST6GAL2 AU NM_001142352 exon4 c.20907-171C>T 0.183107 0.4901 Uncertain 2_107450525_T->C 2 107450525 107450525 T C snp 2395.77 0/1 99 222 113 109 0.49 exonic rs12615112 ST6GAL2 AU nonsynonymous SNV NM_001142351 exon3 c.A1021G p.I341V 0.255591 0.4921 0.136552 0.1589 0.4979 0.37 T 0.0 P -1.011 T 0.007 T 0.03 T Pathogenic 2_107450589_C->T 2 107450589 107450589 C T snp 2134.77 0/1 99 192 98 94 0.49 exonic rs3796111 ST6GAL2 AU synonymous SNV NM_001142351 exon3 c.G957A p.A319A 0.371206 0.5694 0.234892 0.2672 0.5818 Uncertain 2_108618146_G->A 2 108618146 108618146 G A snp 77.77 0/1 28 4 1 3 0.75 intronic rs10595101 SLC5A7 AD NM_001305005 exon6 c.13741-206G>A Uncertain 2_108618514_C->T 2 108618514 108618514 C T snp 552.77 0/1 99 54 26 28 0.52 intronic rs3731684 SLC5A7 AD NM_001305005 exon6 c.13885+18C>T 0.144169 0.1706 0.125096 0.1128 0.1544 Uncertain 2_108618540_G->A 2 108618540 108618540 G A snp 417.77 0/1 99 38 19 19 0.5 intronic rs3731683 SLC5A7 AD NM_001305005 exon6 c.13885+44G>A 0.395966 0.2619 0.420729 0.3615 0.2392 Uncertain 2_108863767_A->C 2 108863767 108863767 A C snp 2755.77 0/1 99 234 114 120 0.51 exonic rs9308806 SULT1C3 AU synonymous SNV NM_001008743 exon1 c.A117C p.V39V 0.846645 0.8998 0.782254 0.7716 0.9090 Uncertain 2_108863898_C->T 2 108863898 108863898 C T snp 529.77 0/1 99 27 9 18 0.67 intronic rs10209928 SULT1C3 AU NM_001008743 exon1 c.172+76C>T 0.366214 0.6974 Uncertain 2_108875093_T->A 2 108875093 108875093 T A snp 451.77 0/1 99 45 27 18 0.4 intronic rs2198463 SULT1C3 AU NM_001008743 exon5 c.11539-96T>A 0.36242 0.6994 Uncertain 2_108875198_G->A 2 108875198 108875198 G A snp 1867.77 0/1 99 145 69 76 0.52 exonic rs2219078 SULT1C3 AU nonsynonymous SNV NM_001008743 exon5 c.G535A p.G179R 0.34984 0.6766 0.227203 0.2803 0.6973 0 D 1.000 P -0.903 T 1.0 D 1.0 D Pathogenic 2_108875244_T->C 2 108875244 108875244 T C snp 2847.77 0/1 99 206 92 114 0.55 exonic rs6722745 SULT1C3 AU nonsynonymous SNV NM_001008743 exon5 c.T581C p.M194T 0.508387 0.7063 0.392357 0.3916 0.7269 0.89 T 0.0 P -1.064 T 0.0 T 0.0 T Pathogenic 2_108875471_G->T 2 108875471 108875471 G T snp 2908.77 0/1 99 250 133 117 0.47 intronic rs13385082 SULT1C3 AU NM_001008743 exon5 c.11634+187G>T 0.591454 0.7688 0.5645 0.7254 1 T 0.0 P -1.034 T Uncertain 2_108876948_C->T 2 108876948 108876948 C T snp 120.77 0/1 99 16 10 6 0.38 intronic rs4141931 SULT1C3 AU NM_001008743 exon5 c.11634+1664C>T 0.708466 0.8135 Uncertain 2_108877062_T->A 2 108877062 108877062 T A snp 1489.77 0/1 99 135 70 65 0.48 intronic rs4141932 SULT1C3 AU NM_001008743 exon5 c.11634+1778T>A 0.722045 0.8135 0.7367 0.8418 0.03 T 0.0 P -1.048 T Uncertain 2_108877316_T->C 2 108877316 108877316 T C snp 231.77 0/1 99 13 5 8 0.62 intronic rs4141933 SULT1C3 AU NM_001008743 exon5 c.11634+2032T>C 0.22484 0.6319 Uncertain 2_108915136_T->C 2 108915136 108915136 T C snp 487.77 0/1 99 49 23 26 0.53 intronic rs7590599 SULT1C2 AU NM_176825 exon4 c.4994+19T>C 0.750998 0.8085 0.5833 0.8333 Uncertain 2_108915263_C->T 2 108915263 108915263 C T snp 331.77 0/1 99 40 25 15 0.38 intronic rs4149422 SULT1C2 AU NM_176825 exon4 c.4994+146C>T 0.777955 0.9157 Uncertain 2_108994732_G->A 2 108994732 108994732 G A snp 1317.77 0/1 99 107 55 52 0.49 UTR5 rs11569697 SULT1C4 AU 0.0369409 0.0099 Uncertain 2_108994808_C->G 2 108994808 108994808 C G snp 2406.77 0/1 99 244 140 104 0.43 exonic rs1402467 SULT1C4 AU nonsynonymous SNV NM_006588 exon1 c.C15G p.D5E 0.417732 0.1081 0.422574 0.2992 0.0763 1 T 0.0 P -1.009 T 0.0 T 0.0 T Pathogenic 2_108998798_T->G 2 108998798 108998798 T G snp 1761.77 0/1 99 144 72 72 0.5 intronic rs34003233 SULT1C4 AU NM_006588 exon3 c.4047-42T>G 0.100639 0.0169 0.0366 0.0207 Uncertain 2_108999484_AAA->- 2 108999484 108999486 AAA - indel 128.73 0/1 99 19 13 6 0.32 intronic rs536086850 SULT1C4 AU NM_006588 exon4 c.4755-64_4755-62delAAA 0.0503195 0.0159 Uncertain 2_108999786_T->C 2 108999786 108999786 T C snp 1447.77 0/1 99 113 53 60 0.53 intronic rs4149436 SULT1C4 AU NM_006588 exon5 c.5078-85T>C 0.437899 0.1081 Uncertain 2_109000112_A->G 2 109000112 109000112 A G snp 74.77 0/1 99 6 3 3 0.5 intronic rs5008103 SULT1C4 AU NM_006588 exon5 c.5173+146A>G 0.0856629 0.0139 Uncertain 2_109002619_C->T 2 109002619 109002619 C T snp 208.77 0/1 99 20 11 9 0.45 intronic rs147057508 SULT1C4 AU NM_006588 exon6 c.7854-28C>T 0.00658946 0.006 0.003699 0.0066 0.0160 Uncertain 2_109004001_C->T 2 109004001 109004001 C T snp 46.77 0/1 33 3 1 2 0.67 UTR3 rs17036301 SULT1C4 AU 0.0860623 0.0149 Uncertain 2_109006665_T->A 2 109006665 109006665 T A snp 1234.77 0/1 99 100 47 53 0.53 intergenic rs13021399 SULT1C4 AU 0.3752 0.8938 Uncertain 2_109065595_G->A 2 109065595 109065595 G A snp 692.77 0/1 99 60 32 28 0.47 UTR5 rs147355200 GCC2 AU 0.00678914 0.0089 Uncertain 2_109065858_T->C 2 109065858 109065858 T C snp 1761.77 1/1 99 55 0 55 1.0 intronic rs2460947 GCC2 AU NM_181453 exon1 c.6+122T>C 0.671126 0.9673 Uncertain 2_109065919_T->C 2 109065919 109065919 T C snp 693.77 0/1 99 58 36 22 0.38 intronic rs3820957 GCC2 AU NM_181453 exon2 c.358-169T>C 0.438498 0.8849 Uncertain 2_109067261_T->C 2 109067261 109067261 T C snp 50.74 1/1 6 2 0 2 1.0 intronic rs2683799 GCC2 AU NM_181453 exon3 c.1753-222T>C 0.864217 0.999 Uncertain 2_109067337_C->T 2 109067337 109067337 C T snp 220.77 0/1 99 15 8 7 0.47 intronic rs12468089 GCC2 AU NM_181453 exon3 c.1753-146C>T 0.446086 0.8899 Uncertain 2_109067359_G->A 2 109067359 109067359 G A snp 242.77 0/1 99 28 19 9 0.32 intronic rs13397470 GCC2 AU NM_181453 exon3 c.1753-124G>A 0.446286 0.8899 Uncertain 2_109067360_T->A 2 109067360 109067360 T A snp 245.77 0/1 99 28 19 9 0.32 intronic rs13410844 GCC2 AU NM_181453 exon3 c.1753-123T>A 0.446286 0.8899 Uncertain 2_109067625_G->A 2 109067625 109067625 G A snp 925.77 0/1 99 53 20 33 0.62 intronic rs115218746 GCC2 AU NM_181453 exon3 c.1838+57G>A 0.00678914 0.0089 0.005694 Uncertain 2_109067688_T->G 2 109067688 109067688 T G snp 104.77 0/1 99 10 6 4 0.4 intronic rs13411256 GCC2 AU NM_181453 exon3 c.1838+120T>G 0.44369 0.8899 Uncertain 2_109069008_T->C 2 109069008 109069008 T C snp 3866.77 1/1 99 159 0 159 1.0 intronic rs2683797 GCC2 AU NM_181453 exon4 c.3192+86T>C 0.669329 0.9673 Uncertain 2_109085373_A->G 2 109085373 109085373 A G snp 1508.77 0/1 99 132 69 63 0.48 intronic rs10179602 GCC2 AU NM_181453 exon5 c.19705-62A>G 0.421725 0.8839 Uncertain 2_109086814_A->G 2 109086814 109086814 A G snp 1027.77 0/1 99 84 38 46 0.55 exonic rs61729897 GCC2 AU synonymous SNV NM_181453 exon6 c.A1029G p.E343E 0.00678914 0.0089 0.004627 0.0061 0.0153 Uncertain 2_109089404_C->G 2 109089404 109089404 C G snp 1011.77 1/1 72 39 0 39 1.0 intronic rs2243888 GCC2 AU NM_181453 exon7 c.23625+49C>G 0.669329 0.9673 0.577018 0.6691 0.9858 Uncertain 2_109092121_G->A 2 109092121 109092121 G A snp 330.77 0/1 99 32 18 14 0.44 intronic rs3213886 GCC2 AU NM_181453 exon8 c.26361+30G>A 0.436302 0.8839 0.311195 0.4620 0.9181 Uncertain 2_109098994_T->C 2 109098994 109098994 T C snp 132.78 0/1 27 8 1 7 0.88 intronic rs3213887 GCC2 AU NM_181453 exon11 c.33177+87T>C 0.436302 0.8839 Uncertain 2_109099477_A->G 2 109099477 109099477 A G snp 2605.77 1/1 99 95 0 95 1.0 intronic rs2577613 GCC2 AU NM_181453 exon12 c.33787-40A>G 0.669329 0.9673 0.582727 0.6541 0.9858 Uncertain 2_109099572_C->G 2 109099572 109099572 C G snp 1614.77 1/1 99 60 0 60 1.0 exonic rs2718698 GCC2 AU nonsynonymous SNV NM_181453 exon12 c.C3400G p.Q1134E 0.997404 1 0.990005 0.9912 1 1 T 0.002 P -0.930 T 0.0 T 0.0 T Pathogenic 2_109102030_T->C 2 109102030 109102030 T C snp 70.77 0/1 99 13 9 4 0.31 intronic rs151031367 GCC2 AU NM_181453 exon14 c.36361-61T>C 0.00678914 0.0089 Uncertain 2_109103108_C->T 2 109103108 109103108 C T snp 1299.77 0/1 99 87 37 50 0.57 splicing rs3754925 GCC2 AU NM_181453 exon16 c.37374+4C>T 0.44369 0.8899 0.329079 0.4450 0.9193 Pathogenic 2_109106381_A->G 2 109106381 109106381 A G snp 1658.77 0/1 99 157 84 73 0.46 exonic rs12104502 GCC2 AU synonymous SNV NM_181453 exon18 c.A4140G p.Q1380Q 0.45647 0.8899 0.343303 0.4509 0.9194 Uncertain 2_109151173_T->G 2 109151173 109151173 T G snp 43.77 0/1 72 5 3 2 0.4 intronic rs12104672 LIMS1 AU NM_001193483 exon1 c.32+123T>G 0.50639 0.9534 Uncertain 2_109277239_C->T 2 109277239 109277239 C T snp 1221.77 0/1 99 101 50 51 0.5 intronic rs12472770 LIMS1 AU NM_001193485 exon2 c.4690+1019C>T 0.433307 0.8839 Uncertain 2_109292169_A->G 2 109292169 109292169 A G snp 110.77 0/1 99 7 3 4 0.57 intronic rs182018090 LIMS1 AU NM_001193485 exon6 c.20803-164A>G 0.00738818 0.0099 Uncertain 2_109292280_T->C 2 109292280 109292280 T C snp 4068.77 1/1 99 141 0 141 1.0 intronic rs7584953 LIMS1 AU NM_001193485 exon6 c.20803-53T>C 0.866014 0.9871 Uncertain 2_109379950_G->A 2 109379950 109379950 G A snp 3472.77 0/1 99 250 118 132 0.53 exonic rs61748147 RANBP2 AD synonymous SNV NM_006267 exon20 c.G2955A p.P985P 0.0103834 0.0149 0.004998 0.0083 0.0289 Uncertain 2_109389463_G->A 2 109389463 109389463 G A snp 2753.77 1/1 99 105 0 105 1.0 exonic rs826580 RANBP2 AD synonymous SNV NM_006267 exon23 c.G8253A p.E2751E 0.98722 1 0.984161 0.9959 1 Uncertain 2_109393523_G->- 2 109393523 109393523 G - indel 1145.73 1/1 90 31 0 31 1.0 intronic rs58272304 RANBP2 AD NM_006267 exon25 c.57523-62delG 0.989417 1 Uncertain 2_109405384_A->G 2 109405384 109405384 A G snp 1354.77 0/1 99 104 43 61 0.59 exonic rs79377757 CCDC138 AU synonymous SNV NM_001303105 exon3 c.A228G p.T76T 0.0103834 0.0149 0.004998 0.0082 0.0289 Uncertain 2_109429146_T->A 2 109429146 109429146 T A snp 686.77 0/1 99 60 31 29 0.48 exonic rs975597 CCDC138 AU synonymous SNV NM_001303105 exon8 c.T915A p.A305A 0.614417 0.8929 0.607445 0.7278 0.9037 1.000 P -1.043 T Likely benign 2_109489754_ATG->- 2 109489754 109489756 ATG - indel 633.73 1/1 36 12 0 12 1.0 intronic rs111818834 CCDC138 AU NM_144978 exon14 c.86628-152_86628-150delATG 0.659744 0.8889 Uncertain 2_109490104_A->G 2 109490104 109490104 A G snp 587.77 1/1 45 16 0 16 1.0 intronic rs6737810 CCDC138 AU NM_144978 exon14 c.86767+59A>G 0.996206 1 Uncertain 2_109490146_A->G 2 109490146 109490146 A G snp 99.28 1/1 9 3 0 3 1.0 intronic rs11686550 CCDC138 AU NM_144978 exon14 c.86767+101A>G 0.666134 0.8889 Uncertain 2_109513321_C->A 2 109513321 109513321 C A snp 1694.77 1/1 99 58 0 58 1.0 UTR3 rs7607563 EDAR AR,AD,AU 0.882987 0.994 0.858966 0.9066 0.9977 CLINSIG=untested;CLNDBN=not_provided;CLNREVSTAT=no_assertion_provided;CLNACC=RCV000143979.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Uncertain 2_109513601_A->G 2 109513601 109513601 A G snp 7044.77 1/1 99 250 0 250 1.0 exonic rs3827760 EDAR AR,AD,AU nonsynonymous SNV NM_022336 exon12 c.T1109C p.V370A 0.235623 0.873 0.010380 0.1300 0.9120 0 D 0.374 P -0.959 T 0.656 T 0.279 P CLINSIG=other;CLNDBN=Hair_morphology_1\x2c_hair_thickness;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000006216.2;CLNDSDB=.;CLNDSDBID=. ID=CM081233;DIS=Increased hair thickness, in Asians, association with;TAG=DFP;PUB=18065779 DFP Pathogenic 2_109513654_G->A 2 109513654 109513654 G A snp 5876.77 1/1 99 224 0 224 1.0 exonic rs12623957 EDAR AR,AD,AU synonymous SNV NM_022336 exon12 c.C1056T p.C352C 0.711861 0.9474 0.699293 0.8103 0.9604 CLINSIG=unknown|non-pathogenic;CLNDBN=not_provided|not_specified;CLNREVSTAT=no_assertion_criteria_provided|criteria_provided\x2c_single_submitter;CLNACC=RCV000143982.1|RCV000150610.1;CLNDSDB=MedGen|MedGen;CLNDSDBID=CN221809|CN169374 Uncertain 2_109513786_A->T 2 109513786 109513786 A T snp 468.77 1/1 36 13 0 13 1.0 intronic rs3789738 EDAR AR,AD,AU NM_022336 exon1 c.323+101A>T 0.66234 0.9028 Uncertain 2_109522720_G->A 2 109522720 109522720 G A snp 1722.77 1/1 99 67 0 67 1.0 intronic rs260639 EDAR AR,AD,AU NM_022336 exon2 c.9401-43G>A 0.674321 0.8968 0.682762 0.7950 0.9111 CLINSIG=unknown;CLNDBN=not_provided;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000143981.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Uncertain 2_109526969_G->A 2 109526969 109526969 G A snp 2243.77 1/1 99 84 0 84 1.0 exonic rs260632 EDAR AR,AD,AU synonymous SNV NM_022336 exon9 c.C750T p.S250S 0.921326 0.994 0.896279 0.9170 0.9983 CLINSIG=unknown|non-pathogenic;CLNDBN=not_provided|not_specified;CLNREVSTAT=no_assertion_criteria_provided|criteria_provided\x2c_single_submitter;CLNACC=RCV000143987.1|RCV000150611.1;CLNDSDB=MedGen|MedGen;CLNDSDBID=CN221809|CN169374 Uncertain 2_109527087_G->A 2 109527087 109527087 G A snp 1281.77 1/1 93 44 0 44 1.0 intronic rs260631 EDAR AR,AD,AU NM_022336 exon4 c.13626+99G>A 0.665535 0.8889 CLINSIG=unknown;CLNDBN=not_provided;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000143986.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Uncertain 2_109527373_A->G 2 109527373 109527373 A G snp 1229.77 1/1 87 45 0 45 1.0 intronic rs260630 EDAR AR,AD,AU NM_022336 exon6 c.14040-29A>G 0.927516 0.994 0.905582 0.9190 0.9983 0.31 T 0.0 P -1.004 T 0.0 T 0.0 T CLINSIG=unknown;CLNDBN=not_provided;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000143984.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Uncertain 2_109545691_T->C 2 109545691 109545691 T C snp 2052.77 0/1 99 210 118 92 0.44 exonic rs61761321 EDAR AR,AD,AU nonsynonymous SNV NM_022336 exon4 c.A319G p.M107V 0.01877 0.0903 0.000308 0.0077 0.1045 0.31 T 0.969 N -0.991 T 0.0 T 0.0 T Pathogenic 2_109745176_G->A 2 109745176 109745176 G A snp 141.03 1/1 12 4 0 4 1.0 ncRNA_exonic rs11681142 SH3RF3-AS1 AU 0.953474 0.994 Uncertain 2_109745783_GGCCGGTCCCCGCCACGCA->- 2 109745783 109745801 GGCCGGTCCCCGCCACGCA - indel 6970.73 1/1 99 78 0 78 1.0 ncRNA_exonic rs200435574 SH3RF3-AS1 AU 0.770767 0.7956 0.9832 0.9919 Uncertain 2_109745929_C->G 2 109745929 109745929 C G snp 588.77 0/1 99 83 52 31 0.37 ncRNA_exonic rs1367274 SH3RF3-AS1 AU 0.352436 0.6419 0.1497 0.6508 Uncertain 2_109929855_T->C 2 109929855 109929855 T C snp 216.84 1/1 18 6 0 6 1.0 intronic rs7584669 SH3RF3 AU NM_001099289 exon2 c.218133-34274T>C 0.340056 0.2163 Uncertain 2_109929861_A->C 2 109929861 109929861 A C snp 218.84 1/1 18 6 0 6 1.0 intronic rs10200501 SH3RF3 AU NM_001099289 exon2 c.218133-34268A>C 0.340056 0.2163 Uncertain 2_109929958_A->G 2 109929958 109929958 A G snp 2560.77 1/1 99 89 0 89 1.0 intronic rs6748434 SH3RF3 AU NM_001099289 exon2 c.218133-34171A>G 0.68111 0.8998 Uncertain 2_109930323_G->A 2 109930323 109930323 G A snp 135.03 1/1 12 4 0 4 1.0 intronic rs4494781 SH3RF3 AU NM_001099289 exon2 c.218133-33806G>A 0.340056 0.2163 Uncertain 2_109964431_C->T 2 109964431 109964431 C T snp 800.77 1/1 60 27 0 27 1.0 intronic rs6725756 SH3RF3 AU NM_001099289 exon2 c.218409+26C>T 0.410343 0.6062 0.265648 0.3144 0.6093 Uncertain 2_110048887_C->G 2 110048887 110048887 C G snp 358.77 0/1 99 24 11 13 0.54 intronic rs77578906 SH3RF3 AU NM_001099289 exon6 c.302960-69C>G 0.0173722 0.0575 Uncertain 2_110048939_C->T 2 110048939 110048939 C T snp 612.77 0/1 99 67 36 31 0.46 intronic rs76579681 SH3RF3 AU NM_001099289 exon6 c.302960-17C>T 0.0177716 0.0585 0.000980 0.0084 0.0684 Uncertain 2_110053209_T->G 2 110053209 110053209 T G snp 83.77 0/1 59 5 2 3 0.6 intronic rs7370446 SH3RF3 AU NM_001099289 exon7 c.307352-139T>G 0.45627 0.4385 Uncertain 2_110053248_C->T 2 110053248 110053248 C T snp 530.77 0/1 99 29 12 17 0.59 intronic rs7369523 SH3RF3 AU NM_001099289 exon7 c.307352-100C>T 0.258187 0.3929 Uncertain 2_110053570_C->T 2 110053570 110053570 C T snp 1311.77 0/1 99 116 54 62 0.53 exonic rs117843818 SH3RF3 AU nonsynonymous SNV NM_001099289 exon7 c.C1796T p.T599M 0.0177716 0.0585 0.000956 0.0084 0.0663 0.04 T 1 N -0.903 T 0.999 D 0.932 D Pathogenic 2_110259305_C->T 2 110259305 110259305 C T snp 217.77 0/1 99 19 10 9 0.47 UTR3 rs72627485 SH3RF3 AU 0.0662939 0.2262 Uncertain 2_110302849_G->A 2 110302849 110302849 G A snp 259.77 0/1 99 21 10 11 0.52 intronic rs187639564 SEPT10 AU NM_144710 exon2 c.1741-777G>A Uncertain 2_110322117_-->A 2 110322117 110322117 - A indel 459.73 0/1 99 76 44 32 0.42 splicing rs201983944 SEPT10 AU NM_144710 exon4 c.20226+6insA 0.0103834 0.0208 0.0207 0.0261 Pathogenic 2_110372192_A->G 2 110372192 110372192 A G snp 1740.77 1/1 99 64 0 64 1.0 exonic rs6594048 SOWAHC AU synonymous SNV NM_023016 exon1 c.A126G p.L42L 1 1 1 1 Uncertain 2_110855123_G->T 2 110855123 110855123 G T snp 6062.77 1/1 99 237 0 237 1.0 intronic rs2004273 MALL AU NM_005434 exon3 c.6076+5776G>T 0.739417 0.874 0.9007 0.9010 Uncertain 2_110882699_A->G 2 110882699 110882699 A G snp 3983.77 1/1 99 144 0 144 1.0 intronic rs2048243 NPHP1 AR NM_000272 exon2 c.1846-514A>G 0.377196 0.5883 Uncertain 2_110886686_-->GACCAGAT 2 110886686 110886686 - GACCAGAT indel 7536.73 1/1 99 71 0 71 1.0 intronic rs3838315 NPHP1 AR NM_000272 exon3 c.5395-76insGACCAGAT 0.478035 0.5873 Uncertain 2_110889108_C->T 2 110889108 110889108 C T snp 893.77 1/1 66 28 0 28 1.0 intronic rs11240790 NPHP1 AR NM_000272 exon4 c.7888-147C>T 0.395767 0.5863 Uncertain 2_110905664_G->A 2 110905664 110905664 G A snp 517.77 1/1 39 16 0 16 1.0 intronic rs1509417 NPHP1 AR NM_000272 exon8 c.24236+61G>A 0.47504 0.5863 Uncertain 2_110919321_C->T 2 110919321 110919321 C T snp 1904.77 1/1 99 69 0 69 1.0 intronic rs2271244 NPHP1 AR NM_000272 exon11 c.37907+47C>T 0.377995 0.5675 0.280990 0.3613 0.5853 Uncertain 2_110922703_C->T 2 110922703 110922703 C T snp 6759.77 1/1 99 250 0 250 1.0 exonic rs11675767 NPHP1 AR synonymous SNV NM_000272 exon7 c.G654A p.E218E 0.474441 0.5863 0.378825 0.3793 0.5961 Uncertain 2_110922814_C->A 2 110922814 110922814 C A snp 831.77 0/1 99 57 27 30 0.53 intronic rs116047229 NPHP1 AR NM_000272 exon14 c.41365+82C>A 0.0257588 0.0952 Uncertain 2_110935867_A->G 2 110935867 110935867 A G snp 178.9 1/1 15 5 0 5 1.0 intronic rs2271245 NPHP1 AR NM_000272 exon17 c.54632-132A>G 0.379593 0.5675 Uncertain 2_110959898_C->G 2 110959898 110959898 C G snp 2817.77 1/1 99 102 0 102 1.0 intronic rs11240794 NPHP1 AR NM_000272 exon19 c.77704+827C>G 0.379792 0.5675 Uncertain 2_111398472_T->C 2 111398472 111398472 T C snp 473.77 0/1 99 29 14 15 0.52 intronic rs13398617 BUB1 AU NM_004336 exon3 c.3070-138T>C 0.150759 0.0833 Uncertain 2_111419426_A->G 2 111419426 111419426 A G snp 1501.77 0/1 99 137 65 72 0.53 intronic rs7609252 BUB1 AU NM_004336 exon16 c.23878+8A>G 0.157947 0.0833 0.134092 0.0778 0.0800 Uncertain 2_111556054_C->T 2 111556054 111556054 C T snp 458.77 0/1 99 34 18 16 0.47 intronic rs563701454 ACOXL AU NM_001142807 exon6 c.30220-132C>T 0.000399361 0.002 Uncertain 2_111644459_G->A 2 111644459 111644459 G A snp 1488.77 0/1 99 94 43 51 0.54 intronic rs12615235 ACOXL AU NM_001142807 exon11 c.140399-21906G>A 0.0395367 0.0675 0.0114 0.0512 Uncertain 2_111691147_G->A 2 111691147 111691147 G A snp 843.77 0/1 99 68 31 37 0.54 exonic rs3761711 ACOXL AU synonymous SNV NM_001142807 exon12 c.G987A p.A329A 0.0664936 0.1766 0.008150 0.0430 0.2058 0.424 P -1.065 T Likely benign 2_111721143_TGTGTGTG->- 2 111721143 111721150 TGTGTGTG - indel 7045.73 ./1 99 86 0 86 1.0 intronic rs138591222 ACOXL AU NM_001142807 exon13 c.218718-23541_218718-23534delTGTGTGTG Uncertain 2_111721143_TGTGTG->- 2 111721143 111721148 TGTGTG - indel 7045.73 ./1 99 86 0 86 1.0 intronic rs200046640 ACOXL AU NM_001142807 exon13 c.218718-23541_218718-23536delTGTGTG Uncertain 2_111721180_G->T 2 111721180 111721180 G T snp 1781.77 0/1 99 154 74 80 0.52 intronic rs11898941 ACOXL AU NM_001142807 exon13 c.218718-23504G>T 0.285343 0.371 0.075350 0.0020 0.0063 Uncertain 2_111881275_G->T 2 111881275 111881275 G T snp 38.77 0/1 67 40 34 6 0.15 intronic rs760142763 BCL2L11 AU 0.0001 0 Uncertain 2_111907691_T->C 2 111907691 111907691 T C snp 3157.77 1/1 99 109 0 109 1.0 exonic rs724710 BCL2L11 AU synonymous SNV NM_138621 exon3 c.T465C p.I155I 0.692492 0.8502 0.711672 0.6562 0.8680 Uncertain 2_111909247_A->G 2 111909247 111909247 A G snp 101.77 0/1 99 16 11 5 0.31 intronic rs3789068 BCL2L11 AU NM_001204107 exon4 c.28076-151A>G 0.352436 0.4653 Uncertain 2_112536264_G->T 2 112536264 112536264 G T snp 1813.77 1/1 99 183 1 182 0.99 exonic rs939797 ANAPC1 AU synonymous SNV NM_022662 exon45 c.C5373A p.I1791I 0.997217 0.9995 1 1.000 P -1.000 T Likely benign 2_112540142_T->C 2 112540142 112540142 T C snp 512.77 0/1 99 76 40 36 0.47 intronic rs1357228 ANAPC1 AU NM_022662 exon6 c.13217+58T>C Uncertain 2_112541814_T->A 2 112541814 112541814 T A snp 959.77 0/1 99 128 68 60 0.47 intronic rs62164158 ANAPC1 AU NM_022662 exon8 c.15032-85T>A Uncertain 2_112541834_C->G 2 112541834 112541834 C G snp 1022.77 0/1 99 196 146 50 0.26 intronic ANAPC1 AU NM_022662 exon8 c.15032-65C>G Uncertain 2_112545981_T->G 2 112545981 112545981 T G snp 148.77 0/1 99 22 12 10 0.45 intronic ANAPC1 AU NM_022662 exon10 c.19030+84T>G Uncertain 2_112590989_A->T 2 112590989 112590989 A T snp 269.77 0/1 99 32 20 12 0.38 intronic rs3761697 ANAPC1 AU NM_022662 exon29 c.64021+101A>T 0.588059 0.5595 Uncertain 2_112605302_C->T 2 112605302 112605302 C T snp 396.77 0/1 99 91 64 27 0.3 exonic rs4848197 ANAPC1 AU synonymous SNV NM_022662 exon15 c.G1791A p.L597L 0.5625 0.5595 0.5516 0.4839 1.0 P -0.927 T Likely benign 2_112605465_T->C 2 112605465 112605465 T C snp 1668.77 1/1 99 54 0 54 1.0 intronic rs4848800 ANAPC1 AU NM_022662 exon34 c.78575+23T>C 0.995407 1 0.996230 0.9989 1 Uncertain 2_112615933_T->C 2 112615933 112615933 T C snp 421.77 0/1 99 143 113 30 0.21 exonic rs72936244 ANAPC1 AU synonymous SNV NM_022662 exon11 c.A1308G p.L436L 0.4529 0.4104 Uncertain 2_112625575_T->C 2 112625575 112625575 T C snp 520.77 0/1 99 57 30 27 0.47 intronic rs6742515 ANAPC1 AU NM_022662 exon42 c.98732-24T>C 0.563099 0.5585 0.580462 0.6366 0.5843 Uncertain 2_112630412_A->C 2 112630412 112630412 A C snp 147.77 0/1 92 9 4 5 0.56 intronic rs141064868 ANAPC1 AU NM_022662 exon43 c.103422+123A>C 0.552316 0.5585 Uncertain 2_112641256_G->A 2 112641256 112641256 G A snp 1188.77 1/1 84 45 0 45 1.0 intronic rs2037198 ANAPC1 AU NM_022662 exon48 c.114651-262G>A 0.995607 1 Uncertain 2_112641257_A->G 2 112641257 112641257 A G snp 357.77 0/1 99 45 30 15 0.33 intronic rs7575582 ANAPC1 AU NM_022662 exon48 c.114651-261A>G 0.694688 0.63 Uncertain 2_112641283_A->G 2 112641283 112641283 A G snp 290.77 0/1 99 29 18 11 0.38 intronic rs12233011 ANAPC1 AU NM_022662 exon48 c.114651-235A>G 0.599441 0.5685 Uncertain 2_112732716_A->G 2 112732716 112732716 A G snp 375.77 1/1 30 10 0 10 1.0 intronic rs2138568 MERTK AR NM_006343 exon7 c.76553-149A>G 0.996805 1 Uncertain 2_112782624_C->T 2 112782624 112782624 C T snp 349.77 0/1 99 35 16 19 0.54 intronic rs188480773 MERTK AR NM_006343 exon18 c.123659+2653C>T 0.000599042 0.002 Uncertain 2_112813391_C->G 2 112813391 112813391 C G snp 2754.77 1/1 99 104 0 104 1.0 intronic rs9308665 TMEM87B AU NM_032824 exon1 c.165+58C>G 0.747604 0.9137 Uncertain 2_112821880_A->G 2 112821880 112821880 A G snp 997.77 1/1 72 34 0 34 1.0 intronic rs60348850 TMEM87B AU NM_032824 exon3 c.8662+50A>G 0.30651 0.6895 0.196247 0.2529 0.7130 Uncertain 2_112832684_G->A 2 112832684 112832684 G A snp 512.77 1/1 39 15 0 15 1.0 intronic rs6542026 TMEM87B AU NM_032824 exon5 c.19371+145G>A 0.998203 1 Uncertain 2_112843566_T->- 2 112843566 112843566 T - indel 3448.73 1/1 99 99 0 99 1.0 intronic rs35496465 TMEM87B AU NM_032824 exon9 c.30413-15delT 0.109026 0.3145 0.055742 0.0966 0.3418 Uncertain 2_112854584_A->G 2 112854584 112854584 A G snp 335.78 1/1 27 13 0 13 1.0 intronic rs4849005 TMEM87B AU NM_032824 exon12 c.41452-36A>G 0.275759 0.6905 0.123739 0.1621 0.7165 Uncertain 2_112856165_C->A 2 112856165 112856165 C A snp 2989.77 1/1 99 113 1 112 0.99 intronic rs4849007 TMEM87B AU NM_032824 exon14 c.43003-6C>A 0.616214 0.88 0.568507 0.5173 0.8658 Uncertain 2_112856308_G->A 2 112856308 112856308 G A snp 1957.77 1/1 99 72 0 72 1.0 intronic rs76533694 TMEM87B AU NM_032824 exon14 c.43107+33G>A 0.00319489 0.0159 0.0009 0.0126 Uncertain 2_112863490_T->C 2 112863490 112863490 T C snp 96.28 1/1 9 3 0 3 1.0 intronic rs552581402 TMEM87B AU NM_032824 exon16 c.50410-88T>C 0.000798722 0.004 Uncertain 2_112865517_G->C 2 112865517 112865517 G C snp 1354.77 1/1 96 53 0 53 1.0 intronic rs7562848 TMEM87B AU NM_032824 exon17 c.52249+100G>C 0.999401 1 Uncertain 2_112933521_C->T 2 112933521 112933521 C T snp 417.77 0/1 99 24 9 15 0.63 intronic rs12711735 FBLN7 AU NM_001128165 exon4 c.37184+105C>T 0.152157 0.3244 Uncertain 2_112939548_T->C 2 112939548 112939548 T C snp 1961.77 0/1 99 158 81 77 0.49 intronic rs4849050 FBLN7 AU NM_153214 exon5 c.43221+95T>C 0.188498 0.3284 0.1951 0.4691 0.63 T 0.000 P -1.021 T Uncertain 2_112940171_G->A 2 112940171 112940171 G A snp 83.77 0/1 69 5 2 3 0.6 intronic rs13402356 FBLN7 AU NM_001128165 exon5 c.44135-196G>A 0.182708 0.3204 Uncertain 2_112940578_C->T 2 112940578 112940578 C T snp 282.77 0/1 99 24 13 11 0.46 intronic rs3811643 FBLN7 AU NM_001128165 exon5 c.44273+73C>T 0.186701 0.3185 Uncertain 2_112943070_C->T 2 112943070 112943070 C T snp 117.03 1/1 12 4 0 4 1.0 intronic rs12711736 FBLN7 AU NM_001128165 exon6 c.46684+154C>T 0.772963 0.9831 Uncertain 2_112945188_T->A 2 112945188 112945188 T A snp 2734.77 1/1 99 90 0 90 1.0 UTR3 rs4848281 FBLN7 AU 0.773562 0.9821 Uncertain 2_112995810_A->G 2 112995810 112995810 A G snp 289.77 0/1 99 24 14 10 0.42 intronic rs2254860 ZC3H8 AU NM_032494 exon7 c.7397-81A>G 0.303115 0.3234 Uncertain 2_113082251_T->- 2 113082251 113082251 T - indel 986.73 0/1 99 100 52 48 0.48 intronic rs398042581 ZC3H6 AU NM_198581 exon10 c.48669+11delT 0.615815 0.7411 0.478362 0.5105 0.7916 Uncertain 2_113089267_T->C 2 113089267 113089267 T C snp 1801.77 0/1 99 155 83 72 0.46 exonic rs7601200 ZC3H6 AU synonymous SNV NM_198581 exon12 c.T2772C p.N924N 0.725639 0.7421 0.636142 0.5962 0.7739 Uncertain 2_113090047_T->C 2 113090047 113090047 T C snp 744.77 0/1 99 107 71 36 0.34 exonic rs4578863 ZC3H6 AU synonymous SNV NM_198581 exon12 c.T3552C p.T1184T 0.724042 0.7421 0.651020 0.5980 0.7762 Uncertain 2_113190894_GGCCGGGTCGAGGCCGCCGCCGCCC->- 2 113190894 113190918 GGCCGGGTCGAGGCCGCCGCCGCCC - indel 2186.73 0/1 99 13 4 9 0.69 intronic RGPD8 AU NM_001164463 exon23 c.63204-64_63204-40delGGCCGGGTCGAGGCCGCCGCCGCCC Uncertain 2_113239833_C->T 2 113239833 113239833 C T snp 276.77 0/1 99 25 13 12 0.48 UTR5 rs13424690 TTL AU 0.118211 0.0972 Uncertain 2_113240183_T->C 2 113240183 113240183 T C snp 369.77 0/1 99 36 24 12 0.33 intronic rs3811038 TTL AU NM_153712 exon1 c.157+105T>C 0.207668 0.1111 Uncertain 2_113258671_G->A 2 113258671 113258671 G A snp 993.77 1/1 75 30 0 30 1.0 intronic rs62157516 TTL AU NM_153712 exon4 c.18861-111G>A 0.452276 0.5476 Uncertain 2_113258916_C->T 2 113258916 113258916 C T snp 1852.77 1/1 99 57 0 57 1.0 exonic rs17846193 TTL AU synonymous SNV NM_153712 exon4 c.C603T p.I201I 0.451278 0.5486 0.3954 0.5659 Uncertain 2_113277949_T->C 2 113277949 113277949 T C snp 2647.77 1/1 99 84 0 84 1.0 exonic rs62157538 TTL AU synonymous SNV NM_153712 exon6 c.T966C p.D322D 0.184305 0.2758 0.146855 0.1783 0.3051 Uncertain 2_113305152_C->T 2 113305152 113305152 C T snp 2444.77 0/1 99 173 81 92 0.53 intronic rs78234807 POLR1B AU NM_001282774 exon3 c.5073+8C>T 0.0175719 0.0694 0.004383 0.0124 0.0828 Uncertain 2_113405436_G->C 2 113405436 113405436 G C snp 1406.77 0/1 99 118 65 53 0.45 intronic rs3817328 SLC20A1 AU NM_005415 exon4 c.910+121G>C 0.132987 0.4206 Uncertain 2_113405483_C->T 2 113405483 113405483 C T snp 429.77 0/1 99 29 14 15 0.52 intronic rs77746742 SLC20A1 AU NM_005415 exon4 c.910+168C>T 0.126797 0.4206 Uncertain 2_113478889_A->G 2 113478889 113478889 A G snp 222.84 1/1 18 6 0 6 1.0 intergenic rs2063918 SLC20A1 AU 0.951278 1 Uncertain 2_113479746_C->- 2 113479746 113479746 C - indel 4415.73 1/1 99 132 0 132 1.0 intergenic rs34781106 SLC20A1 AU 0.919928 0.9563 0.9630 0.9481 Uncertain 2_113480468_G->T 2 113480468 113480468 G T snp 199.8 0/1 21 7 1 6 0.86 intergenic rs28517807 SLC20A1 AU 0.144369 0.4226 Uncertain 2_113480557_C->- 2 113480557 113480557 C - indel 2832.73 1/1 99 73 0 73 1.0 intergenic rs34912983 SLC20A1 AU 0.417133 0.6994 Uncertain 2_113480938_-->CACACACACACACA 2 113480938 113480938 - CACACACACACACA indel 1086.74 1/1 27 17 0 17 1.0 intergenic rs36112869 SLC20A1 AU Uncertain 2_113481547_A->G 2 113481547 113481547 A G snp 2916.77 1/1 99 88 0 88 1.0 intergenic rs2063919 SLC20A1 AU 0.901558 0.9514 Uncertain 2_113482779_A->C 2 113482779 113482779 A C snp 4315.77 1/1 99 150 0 150 1.0 intergenic rs4849116 SLC20A1 AU 0.863419 1 0.9712 1 0.15 T 0.545 P -1.049 T Uncertain 2_113484319_G->A 2 113484319 113484319 G A snp 5918.77 1/1 99 225 1 224 1.0 intergenic rs2138604 SLC20A1 AU 0.982628 1 0.9966 1 Uncertain 2_113484353_A->G 2 113484353 113484353 A G snp 4296.77 1/1 99 150 2 148 0.99 intergenic rs2138605 SLC20A1 AU 0.978435 1 0.9950 1 Uncertain 2_113498566_A->G 2 113498566 113498566 A G snp 3056.77 1/1 99 97 0 97 1.0 exonic rs3811040 CKAP2L AR nonsynonymous SNV NM_152515 exon8 c.T1841C p.L614S 0.422524 0.6895 0.375903 0.4926 0.6874 0.73 T 0.0 P -0.976 T 0.035 T 0.034 T Pathogenic 2_113503830_C->T 2 113503830 113503830 C T snp 556.77 1/1 42 15 1 14 0.93 intronic rs6542088 CKAP2L AR NM_152515 exon4 c.7597-166C>T 0.963858 1 Uncertain 2_113513504_A->G 2 113513504 113513504 A G snp 176.9 1/1 15 6 1 5 0.83 intronic rs4848298 CKAP2L AR NM_152515 exon6 c.17154-49A>G 0.422324 0.6895 0.375827 0.4954 0.6872 Uncertain 2_113513825_T->C 2 113513825 113513825 T C snp 7615.77 1/1 99 250 2 248 0.99 exonic rs6731822 CKAP2L AR nonsynonymous SNV NM_152515 exon4 c.A1123G p.I375V 0.963858 1 0.940181 0.9622 1 0.53 T 0.0 P -0.957 T 0.002 T 0.002 T Pathogenic 2_113532885_G->T 2 113532885 113532885 G T snp 1199.77 0/1 99 116 61 55 0.47 intronic rs3783550 IL1A AU NM_000575 exon1 c.201+41G>T 0.620407 0.2946 0.725896 0.6512 0.2958 Uncertain 2_113535395_G->T 2 113535395 113535395 G T snp 67.77 0/1 96 15 11 4 0.27 intronic rs2071376 IL1A AU NM_000575 exon2 c.2920-168G>T 0.620407 0.2946 Uncertain 2_113535438_C->T 2 113535438 113535438 C T snp 728.77 0/1 99 48 25 23 0.48 intronic rs2071375 IL1A AU NM_000575 exon2 c.2920-125C>T 0.217452 0.0734 Uncertain 2_113537223_C->A 2 113537223 113537223 C A snp 1353.77 0/1 99 104 48 56 0.54 exonic rs17561 IL1A AU nonsynonymous SNV NM_000575 exon5 c.G340T p.A114S 0.217452 0.0734 0.261648 0.2733 0.0810 0.4 T 0.0 P -0.912 T 0.982 D 0.637 D ID=CM040227;DIS=Malaria, susceptibility, association with;TAG=DFP;PUB=14673470 DFP Pathogenic 2_113537339_A->G 2 113537339 113537339 A G snp 93.28 1/1 9 3 0 3 1.0 intronic rs2856841 IL1A AU NM_000575 exon3 c.4600+96A>G 0.202276 0.0734 Uncertain 2_113540084_G->A 2 113540084 113540084 G A snp 83.77 0/1 30 4 1 3 0.75 intronic rs2071373 IL1A AU NM_000575 exon5 c.7649-208G>A 0.663938 0.2946 Uncertain 2_113540177_C->T 2 113540177 113540177 C T snp 978.77 0/1 99 87 48 39 0.45 intronic rs1894399 IL1A AU NM_000575 exon5 c.7649-115C>T 0.280351 0.0734 Uncertain 2_113540205_G->T 2 113540205 113540205 G T snp 1297.77 0/1 99 137 81 56 0.41 intronic rs1609682 IL1A AU NM_000575 exon5 c.7649-87G>T 0.620407 0.2946 Uncertain 2_113588302_C->T 2 113588302 113588302 C T snp 296.77 0/1 99 20 10 10 0.5 intronic rs1143643 IL1B AD NM_000576 exon1 c.213+152C>T 0.28774 0.497 Uncertain 2_113590467_C->T 2 113590467 113590467 C T snp 795.77 0/1 99 53 21 32 0.6 intronic rs1143633 IL1B AD NM_000576 exon3 c.2466+64C>T 0.310903 0.5387 Uncertain 2_113742734_G->A 2 113742734 113742734 G A snp 141.03 1/1 12 4 0 4 1.0 UTR3 rs7584409 IL36G AU 0.866414 0.9901 Uncertain 2_113763575_A->G 2 113763575 113763575 A G snp 3947.77 1/1 99 135 0 135 1.0 exonic rs895497 IL36A AU nonsynonymous SNV NM_014440 exon2 c.A35G p.Q12R 0.840655 0.9901 0.725041 0.7869 0.9933 0.53 T 0.0 P -0.993 T 0.0 T 0.0 T Pathogenic 2_113764287_C->T 2 113764287 113764287 C T snp 1086.77 0/1 99 85 37 48 0.56 exonic rs2289934 IL36A AU synonymous SNV NM_014440 exon3 c.C237T p.V79V 0.00539137 0.0258 0.0016 0.0218 ID=COSM148931;OCCURENCE=1(stomach) Uncertain 2_113783570_C->T 2 113783570 113783570 C T snp 761.77 1/1 57 21 0 21 1.0 intronic rs13030063 IL36B AU NM_014438 exon2 c.3429-109C>T 0.51258 0.7202 Uncertain 2_113783909_A->T 2 113783909 113783909 A T snp 483.77 1/1 36 14 0 14 1.0 intronic rs6744874 IL36B AU NM_014438 exon2 c.3559+100A>T 0.847045 0.9266 Uncertain 2_113785020_A->G 2 113785020 113785020 A G snp 853.77 1/1 63 30 0 30 1.0 intronic rs12711747 IL36B AU NM_014438 exon2 c.3559+1211A>G 0.682508 0.9137 Uncertain 2_113785202_G->A 2 113785202 113785202 G A snp 5447.77 1/1 99 203 0 203 1.0 intronic rs11673918 IL36B AU NM_014438 exon3 c.6265-1313G>A 0.514377 0.7202 Uncertain 2_113785727_A->G 2 113785727 113785727 A G snp 1392.77 1/1 99 46 0 46 1.0 intronic rs1562304 IL36B AU NM_173178 exon1 c.213+35A>G 0.984425 1 0.947923 0.9532 1 Uncertain 2_113785842_G->C 2 113785842 113785842 G C snp 56.74 1/1 6 2 0 2 1.0 intronic rs1006122 IL36B AU NM_173178 exon1 c.213+150G>C 0.861222 0.9276 Uncertain 2_113786833_C->G 2 113786833 113786833 C G snp 269.8 1/1 21 9 0 9 1.0 intronic rs3948121 IL36B AU NM_173178 exon2 c.1176+178C>G 0.759185 0.9494 Uncertain 2_113789316_C->T 2 113789316 113789316 C T snp 912.77 1/1 66 36 0 36 1.0 UTR5 rs2305150 IL36B AU 0.639776 0.7242 0.562202 0.6155 0.6854 Uncertain 2_113816940_C->G 2 113816940 113816940 C G snp 301.77 0/1 99 33 20 13 0.39 intronic rs2278716 IL36RN AR 0.320687 0.1855 0.019054 Uncertain 2_113816942_A->C 2 113816942 113816942 A C snp 304.77 0/1 99 32 18 14 0.44 intronic rs2278717 IL36RN AR 0.324481 0.1865 0.026500 Uncertain 2_113818632_G->A 2 113818632 113818632 G A snp 1246.77 1/1 90 39 0 39 1.0 intronic rs2251872 IL36RN AR NM_012275 exon3 c.1499+118G>A 0.800519 0.9435 Uncertain 2_113818702_G->C 2 113818702 113818702 G C snp 420.77 1/1 33 14 0 14 1.0 intronic rs2515395 IL36RN AR NM_012275 exon3 c.1499+188G>C 0.800519 0.9435 Uncertain 2_113818727_A->G 2 113818727 113818727 A G snp 182.9 1/1 15 5 0 5 1.0 intronic rs2251876 IL36RN AR NM_012275 exon3 c.1499+213A>G 0.667532 0.7321 Uncertain 2_113818738_G->A 2 113818738 113818738 G A snp 182.9 1/1 15 5 0 5 1.0 intronic rs1374285 IL36RN AR NM_012275 exon3 c.1499+224G>A 0.800519 0.9435 Uncertain 2_113819536_A->G 2 113819536 113819536 A G snp 493.77 1/1 39 13 0 13 1.0 intronic rs2472187 IL36RN AR NM_012275 exon4 c.2685-164A>G 0.803514 0.9435 Uncertain 2_113819614_T->C 2 113819614 113819614 T C snp 2033.77 1/1 99 69 0 69 1.0 intronic rs2252007 IL36RN AR NM_012275 exon4 c.2685-86T>C 0.803514 0.9435 Uncertain 2_113830201_T->G 2 113830201 113830201 T G snp 811.77 0/1 99 40 13 27 0.68 UTR5 rs3811051 IL1F10 AU 0.642971 0.4296 Uncertain 2_113830582_A->C 2 113830582 113830582 A C snp 141.03 1/1 12 4 0 4 1.0 intronic rs4849150 IL1F10 AU NM_173161 exon2 c.32+235A>C 0.640775 0.7361 Uncertain 2_113831945_T->C 2 113831945 113831945 T C snp 2104.77 1/1 99 80 0 80 1.0 exonic rs3811058 IL1F10 AU synonymous SNV NM_032556 exon2 c.T72C p.D24D 0.176717 0.5179 0.067277 0.1225 0.55 Uncertain 2_113832333_C->A 2 113832333 113832333 C A snp 1640.77 1/1 99 59 0 59 1.0 exonic rs6743376 IL1F10 AU nonsynonymous SNV NM_032556 exon3 c.C152A p.A51D 0.725439 0.6825 0.680532 0.6931 0.6945 0.88 T 0.000 P -0.994 T 0.0 T 0.0 T Pathogenic 2_113940681_T->C 2 113940681 113940681 T C snp 3162.77 1/1 99 102 0 102 1.0 exonic rs3748914 PSD4 AU synonymous SNV NM_012455 exon2 c.T648C p.S216S 0.57528 0.6042 0.502537 0.4877 0.6134 Uncertain 2_113940839_G->C 2 113940839 113940839 G C snp 7168.77 1/1 99 250 0 250 1.0 exonic rs4849167 PSD4 AU nonsynonymous SNV NM_012455 exon2 c.G806C p.G269A 0.516973 0.6012 0.440566 0.4705 0.6109 0.159 P -1.014 T 0.753 T 0.241 P Pathogenic 2_113942903_A->C 2 113942903 113942903 A C snp 1295.77 1/1 93 49 0 49 1.0 intronic rs1975535 PSD4 AU NM_012455 exon4 c.2908-38A>C 0.573882 0.5972 0.503229 0.4872 0.6093 Uncertain 2_113943470_A->G 2 113943470 113943470 A G snp 3551.77 1/1 99 129 0 129 1.0 exonic rs2241976 PSD4 AU synonymous SNV NM_012455 exon5 c.A1266G p.G422G 0.577476 0.6012 0.510149 0.5293 0.6365 Uncertain 2_113943995_C->T 2 113943995 113943995 C T snp 86.77 0/1 33 6 2 4 0.67 intronic rs2241977 PSD4 AU NM_012455 exon5 c.3799+163C>T 0.164537 0.4851 Uncertain 2_113950895_C->T 2 113950895 113950895 C T snp 2342.77 0/1 99 214 120 94 0.44 exonic rs200837981 PSD4 AU synonymous SNV NM_012455 exon8 c.C1980T p.Y660Y 0.000599042 0.003 0.0002 0.0032 Uncertain 2_113953112_GGATGGATGGATGGATGGATGGAT->- 2 113953112 113953135 GGATGGATGGATGGATGGATGGAT - indel 1272.87 1/1 15 5 0 5 1.0 intronic rs149531587 PSD4 AU NM_012455 exon11 c.13270-191_13270-168delGGATGGATGGATGGATGGATGGAT Uncertain 2_113953401_A->G 2 113953401 113953401 A G snp 3473.77 1/1 99 135 1 134 0.99 intronic rs923693 PSD4 AU NM_012455 exon11 c.13314+54A>G 0.997005 1 0.996496 Uncertain 2_113953657_A->C 2 113953657 113953657 A C snp 5231.77 1/1 99 189 0 189 1.0 intronic rs4849169 PSD4 AU NM_012455 exon12 c.13690-66A>C 0.441094 0.6508 Uncertain 2_113953952_T->C 2 113953952 113953952 T C snp 1525.77 1/1 99 43 0 43 1.0 intronic rs4848318 PSD4 AU NM_012455 exon12 c.13851+68T>C 0.441494 0.6508 Uncertain 2_113953973_-->T 2 113953973 113953973 - T indel 1231.73 1/1 90 30 0 30 1.0 intronic rs71385890 PSD4 AU NM_012455 exon12 c.13851+89insT 0.440096 0.6458 Uncertain 2_113953975_ACA->- 2 113953975 113953977 ACA - indel 1181.73 1/1 57 19 0 19 1.0 intronic rs10579377 PSD4 AU NM_012455 exon12 c.13851+91_13851+93delACA 0.440096 0.6458 Uncertain 2_113954006_A->G 2 113954006 113954006 A G snp 250.8 1/1 21 7 0 7 1.0 intronic rs2241978 PSD4 AU NM_012455 exon12 c.13851+122A>G 0.441494 0.6508 Uncertain 2_113955074_G->A 2 113955074 113955074 G A snp 2457.77 1/1 99 86 0 86 1.0 intronic rs902695 PSD4 AU NM_012455 exon13 c.15107-66G>A 0.440895 0.6498 0.5550 0.7042 Uncertain 2_113956371_G->C 2 113956371 113956371 G C snp 4088.77 1/1 99 145 0 145 1.0 exonic rs2276561 PSD4 AU synonymous SNV NM_012455 exon15 c.G2679C p.T893T 0.441494 0.6498 0.375841 0.4869 0.6548 Uncertain 2_113956821_C->G 2 113956821 113956821 C G snp 2249.77 1/1 99 81 0 81 1.0 intronic rs2305133 PSD4 AU NM_012455 exon16 c.16770+18C>G 0.441294 0.6498 0.325414 0.5872 0.6937 Uncertain 2_113977862_T->G 2 113977862 113977862 T G snp 56.74 1/1 6 2 0 2 1.0 intronic rs4849175 PAX8 AD NM_003466 exon2 c.1646+107T>G 0.991014 1 Uncertain 2_113994417_G->T 2 113994417 113994417 G T snp 1859.77 1/1 99 72 1 71 0.99 ncRNA_intronic rs1110839 PAX8-AS1 AU 0.476637 0.6518 Uncertain 2_113994510_A->G 2 113994510 113994510 A G snp 182.9 1/1 15 5 0 5 1.0 ncRNA_intronic rs11898670 PAX8-AS1 AU 0.970647 1 Uncertain 2_114000458_C->A 2 114000458 114000458 C A snp 726.77 1/1 54 21 0 21 1.0 ncRNA_intronic rs902691 PAX8-AS1 AU 0.999201 1 Uncertain 2_114220055_T->C 2 114220055 114220055 T C snp 1617.77 1/1 99 56 0 56 1.0 exonic rs1210133 CBWD2 AU synonymous SNV NM_172003 exon8 c.T646C p.L216L 0.345647 0.5446 0.259918 0.2740 0.5147 Uncertain 2_114386172_A->G 2 114386172 114386172 A G snp 311.77 0/1 99 174 139 35 0.2 UTR5 rs1665303 RABL2A AU 0.4037 0.5026 Uncertain 2_114386461_T->C 2 114386461 114386461 T C snp 68.77 0/1 65 5 2 3 0.6 intronic rs1622692 RABL2A AU NM_013412 exon2 c.107+171T>C 0.329673 0.4256 Uncertain 2_114387907_C->T 2 114387907 114387907 C T snp 1337.77 0/1 99 113 60 53 0.47 intronic rs1964835 RABL2A AU NM_013412 exon2 c.107+1617C>T 0.407947 0.4534 Uncertain 2_114387950_G->A 2 114387950 114387950 G A snp 542.77 0/1 99 36 19 17 0.47 intronic rs1040646 RABL2A AU NM_013412 exon2 c.107+1660G>A 0.406949 0.4514 Uncertain 2_114391721_T->C 2 114391721 114391721 T C snp 841.77 0/1 99 133 90 43 0.32 intronic rs793079 RABL2A AU NM_013412 exon4 c.5546-8T>C 0.330272 0.4276 0.236648 0.2699 0.5079 Uncertain 2_114392641_G->- 2 114392641 114392641 G - indel 2868.73 0/1 99 135 50 85 0.63 exonic rs201528381 RABL2A AU frameshift deletion NM_007082 exon5 c.231delG p.T77fs 0.0493211 0.0992 0.0315 0.1092 ID=COSM1613314;OCCURENCE=1(liver) Pathogenic 2_114392716_C->T 2 114392716 114392716 C T snp 1049.77 0/1 99 71 28 43 0.61 intronic rs146907164 RABL2A AU NM_013412 exon5 c.6524+9C>T 0.401158 0.4514 0.343077 0.3193 0.4855 Uncertain 2_114426028_A->G 2 114426028 114426028 A G snp 519.77 0/1 99 72 40 32 0.44 intergenic rs201849304 RABL2A AU 0.0453275 0.1022 Uncertain 2_114426090_C->T 2 114426090 114426090 C T snp 1834.77 0/1 99 152 74 78 0.51 intergenic rs80162835 RABL2A AU 0.096246 0.1786 Uncertain 2_114426115_T->C 2 114426115 114426115 T C snp 1993.77 0/1 99 191 90 101 0.53 intergenic rs2285396 RABL2A AU 0.517173 0.4147 Uncertain 2_114429573_C->T 2 114429573 114429573 C T snp 1308.77 0/1 99 131 71 60 0.46 intergenic rs17017000 RABL2A AU 0.272963 0.3214 Uncertain 2_114475652_C->G 2 114475652 114475652 C G snp 133.03 1/1 12 4 0 4 1.0 intronic rs2122096 SLC35F5 AU NM_025181 exon2 c.76+225C>G 0.993011 1 Uncertain 2_114493260_A->G 2 114493260 114493260 A G snp 261.77 0/1 99 13 5 8 0.62 intronic rs12624301 SLC35F5 AU NM_025181 exon9 c.18002-93A>G 0.190495 0.2133 Uncertain 2_114493510_T->- 2 114493510 114493510 T - indel 849.73 0/1 99 67 31 36 0.54 intronic rs142249018 SLC35F5 AU NM_025181 exon9 c.18084+75delT 0.190296 0.2133 Uncertain 2_114501112_C->T 2 114501112 114501112 C T snp 62.77 0/1 91 14 10 4 0.29 intronic rs3748906 SLC35F5 AU NM_025181 exon11 c.25938-177C>T 0.198283 0.2133 Uncertain 2_114503630_T->G 2 114503630 114503630 T G snp 136.77 0/1 99 12 7 5 0.42 intronic rs58673639 SLC35F5 AU NM_025181 exon12 c.28502-223T>G 0.170927 0.2153 Uncertain 2_114513787_C->G 2 114513787 114513787 C G snp 1512.77 1/1 99 51 0 51 1.0 intronic rs4538208 SLC35F5 AU NM_025181 exon16 c.38595-159C>G 0.866014 0.7262 Uncertain 2_114513901_C->T 2 114513901 114513901 C T snp 1222.77 0/1 99 116 58 58 0.5 intronic rs4321376 SLC35F5 AU NM_025181 exon16 c.38595-45C>T 0.20627 0.2153 0.185561 0.2436 0.2913 Uncertain 2_114647923_G->A 2 114647923 114647923 G A snp 297.77 0/1 99 24 12 12 0.5 ncRNA_intronic rs186459184 LOC101060091 AU 0.00798722 0.0367 0.0016 0.0311 Uncertain 2_114709476_A->T 2 114709476 114709476 A T snp 4042.77 1/1 99 136 0 136 1.0 intronic rs13418557 ACTR3 AU NM_005721 exon10 c.61566+54A>T 0.272963 0.3829 Uncertain 2_114714855_A->G 2 114714855 114714855 A G snp 595.77 0/1 99 50 24 26 0.52 intronic rs3748996 ACTR3 AU NM_005721 exon12 c.67080-81A>G 0.0764776 0.249 Uncertain 2_115919301_G->A 2 115919301 115919301 G A snp 54.74 1/1 6 3 1 2 0.67 upstream rs13313771 DPP10 AU 0.324681 0.3641 Uncertain 2_115919677_C->G 2 115919677 115919677 C G snp 346.78 1/1 27 14 0 14 1.0 intronic rs7557011 DPP10 AU NM_001178034 exon1 c.72+72C>G 0.978235 0.9881 Uncertain 2_115919678_T->C 2 115919678 115919678 T C snp 361.78 1/1 27 14 0 14 1.0 intronic rs7573359 DPP10 AU NM_001178034 exon1 c.72+73T>C 0.996406 0.997 Uncertain 2_116066984_G->A 2 116066984 116066984 G A snp 1721.77 1/1 99 53 0 53 1.0 intronic rs975453 DPP10 AU NM_001178037 exon2 c.244595+55G>A 0.750399 0.7282 Uncertain 2_116099725_A->T 2 116099725 116099725 A T snp 2595.77 1/1 99 97 0 97 1.0 intronic rs843403 DPP10 AU NM_001178037 exon3 c.279058-1667A>T 0.874002 0.7619 0.8567 0.7879 Uncertain 2_116497479_A->G 2 116497479 116497479 A G snp 3148.77 1/1 99 105 0 105 1.0 intronic rs1550854 DPP10 AU NM_001178037 exon9 c.675135+10A>G 0.954872 1 0.955867 0.9879 1 Uncertain 2_116497528_A->G 2 116497528 116497528 A G snp 1481.77 1/1 99 45 0 45 1.0 intronic rs1550853 DPP10 AU NM_001178037 exon9 c.675135+59A>G 0.970847 1 Uncertain 2_116510817_G->C 2 116510817 116510817 G C snp 752.77 0/1 99 100 64 36 0.36 exonic rs2053724 DPP10 AU nonsynonymous SNV NM_001178034 exon11 c.G1030C p.A344P 0.529353 0.7321 0.478010 0.6108 0.7197 0.46 T 0.000 P -1.037 T 0.027 T 0.005 T Pathogenic 2_116525960_G->A 2 116525960 116525960 G A snp 3734.77 1/1 99 136 0 136 1.0 exonic rs1446495 DPP10 AU nonsynonymous SNV NM_001178034 exon13 c.G1213A p.V405I 0.96905 1 0.969245 0.9917 1 1 T 0.000 P -0.957 T 0.001 T 0.001 T Pathogenic 2_116534922_A->G 2 116534922 116534922 A G snp 722.77 0/1 99 96 60 36 0.38 intronic rs1374271 DPP10 AU NM_001178037 exon14 c.712541+47A>G 0.282548 0.2788 0.280255 0.2571 0.2787 Uncertain 2_116539847_A->- 2 116539847 116539847 A - indel 284.73 0/1 99 14 4 10 0.71 intronic rs36082071 DPP10 AU NM_001178037 exon17 c.717593-80delA 0.366214 0.3353 Uncertain 2_116548526_A->G 2 116548526 116548526 A G snp 311.78 1/1 24 9 0 9 1.0 intronic rs6735355 DPP10 AU NM_001178037 exon18 c.726322-130A>G 0.835264 0.9276 Uncertain 2_116548820_C->T 2 116548820 116548820 C T snp 1749.77 1/1 99 66 0 66 1.0 intronic rs3738879 DPP10 AU NM_001178037 exon19 c.726528-42C>T 0.83147 0.9276 0.786692 0.8105 0.9244 Uncertain 2_116593676_TG->- 2 116593676 116593677 TG - indel 634.73 1/1 35 18 1 17 0.94 intronic rs10549769 DPP10 AU NM_001178037 exon22 c.771398-56_771398-55delTG Uncertain 2_116594221_G->C 2 116594221 116594221 G C snp 712.77 0/1 99 50 25 25 0.5 intronic rs736335 DPP10 AU NM_001178037 exon24 c.771915-28G>C 0.230032 0.5347 0.168078 0.2520 0.5663 Uncertain 2_116598546_G->A 2 116598546 116598546 G A snp 436.77 1/1 33 13 0 13 1.0 intronic rs272011 DPP10 AU NM_001178037 exon25 c.776065+147G>A 0.797324 0.9286 Uncertain 2_116599659_A->T 2 116599659 116599659 A T snp 984.77 1/1 75 28 0 28 1.0 intronic rs272010 DPP10 AU NM_001178037 exon26 c.777452-127A>T 0.836661 0.9286 Uncertain 2_116599927_T->C 2 116599927 116599927 T C snp 2520.77 1/1 99 92 0 92 1.0 UTR3 rs272009 DPP10 AU 0.982628 1 0.982777 0.9945 1 Uncertain 2_118572471_A->C 2 118572471 118572471 A C snp 1013.77 0/1 99 81 39 42 0.52 intronic rs3755492 DDX18 AU NM_006773 exon1 c.85+33A>C 0.305511 0.5298 0.302553 0.3635 0.5354 Uncertain 2_118575158_AAG->- 2 118575158 118575160 AAG - indel 760.73 0/1 99 32 16 16 0.5 exonic rs141279997 DDX18 AU nonframeshift deletion NM_006773 exon2 c.224_226del p.75_76del 0.00339457 0.0169 0.0020 0.0243 Uncertain 2_118575215_C->G 2 118575215 118575215 C G snp 823.77 0/1 99 59 25 34 0.58 exonic rs1052637 DDX18 AU nonsynonymous SNV NM_006773 exon2 c.C281G p.T94S 0.426917 0.2282 0.437788 0.3822 0.1984 0.93 T 0.003 P -0.908 T 0.02 T 0.006 T Pathogenic 2_118575468_C->T 2 118575468 118575468 C T snp 132.77 0/1 99 11 6 5 0.45 intronic rs6737733 DDX18 AU NM_006773 exon2 c.2951+164C>T 0.348642 0.1726 Uncertain 2_118583940_C->T 2 118583940 118583940 C T snp 3051.77 0/1 99 250 123 127 0.51 exonic rs2303348 DDX18 AU synonymous SNV NM_006773 exon11 c.C1617T p.R539R 0.303714 0.5298 0.296017 0.3657 0.5323 Uncertain 2_118688754_T->C 2 118688754 118688754 T C snp 4842.77 1/1 99 179 0 179 1.0 intronic rs971754 CCDC93 AU NM_019044 exon2 c.10808+28T>C 0.966653 1 0.963709 0.9899 1 Uncertain 2_118692868_T->G 2 118692868 118692868 T G snp 141.03 1/1 12 4 0 4 1.0 intronic rs12151840 CCDC93 AU NM_019044 exon3 c.15152-202T>G 0.342851 0.1399 Uncertain 2_118692929_G->A 2 118692929 118692929 G A snp 800.77 0/1 99 45 19 26 0.58 intronic rs12151445 CCDC93 AU NM_019044 exon3 c.15152-141G>A 0.342452 0.1399 Uncertain 2_118694393_C->G 2 118694393 118694393 C G snp 1872.77 0/1 99 165 86 79 0.48 intronic rs2303333 CCDC93 AU NM_019044 exon4 c.16397+78C>G 0.343051 0.1399 0.392466 Uncertain 2_118698699_A->G 2 118698699 118698699 A G snp 700.77 0/1 99 49 23 26 0.53 intronic rs2303330 CCDC93 AU NM_019044 exon6 c.20846-65A>G 0.265176 0.1349 Uncertain 2_118704478_T->G 2 118704478 118704478 T G snp 3048.77 1/1 99 109 0 109 1.0 intronic rs7580124 CCDC93 AU NM_019044 exon9 c.26540+20T>G 0.991813 1 0.994387 0.9981 0.9998 Uncertain 2_118704503_A->G 2 118704503 118704503 A G snp 878.77 0/1 99 77 41 36 0.47 intronic rs2303329 CCDC93 AU NM_019044 exon9 c.26540+45A>G 0.594249 0.8591 0.513840 0.6176 0.8646 Uncertain 2_118705570_A->G 2 118705570 118705570 A G snp 2079.77 1/1 99 62 0 62 1.0 intronic rs10186396 CCDC93 AU NM_019044 exon10 c.27762-110A>G 0.96905 1 Uncertain 2_118706879_A->G 2 118706879 118706879 A G snp 4797.77 1/1 99 176 0 176 1.0 intronic rs1035598 CCDC93 AU NM_019044 exon11 c.28979-18A>G 0.966653 0.999 0.963709 0.9899 0.9999 Uncertain 2_118716166_C->T 2 118716166 118716166 C T snp 972.77 0/1 99 71 34 37 0.52 intronic rs1991102 CCDC93 AU NM_019044 exon13 c.38139+109C>T 0.342452 0.1399 Uncertain 2_118731573_G->A 2 118731573 118731573 G A snp 1892.77 0/1 99 159 77 82 0.52 splicing rs748767 CCDC93 AU NM_019044 exon14 c.53652+3G>A 0.417532 0.6567 0.374904 0.4935 0.7015 Pathogenic 2_118732975_T->C 2 118732975 118732975 T C snp 575.77 1/1 42 20 0 20 1.0 intronic rs6722547 CCDC93 AU NM_019044 exon16 c.54938+119T>C 0.967053 1 Uncertain 2_118735395_G->A 2 118735395 118735395 G A snp 212.84 1/1 18 6 0 6 1.0 intronic rs889899 CCDC93 AU NM_019044 exon17 c.57651-174G>A 0.96885 1 Uncertain 2_118753148_-->TC 2 118753148 118753148 - TC indel 3022.73 1/1 99 63 0 63 1.0 intronic rs10633675 CCDC93 AU NM_019044 exon19 c.75160+70insTC 0.96885 0.999 0.967737 Uncertain 2_118753240_G->A 2 118753240 118753240 G A snp 44.74 1/1 6 2 0 2 1.0 intronic rs4142226 CCDC93 AU NM_019044 exon19 c.75160+162G>A 0.613019 0.8601 Uncertain 2_118758476_G->C 2 118758476 118758476 G C snp 755.77 0/1 99 78 42 36 0.46 exonic rs763988055 CCDC93 AU nonsynonymous SNV NM_019044 exon4 c.C284G p.P95R 8.255e-06 0.0001 0.12 T 1 D -0.759 T 0.995 D 0.929 D Pathogenic 2_118764242_-->A 2 118764242 118764242 - A indel 1394.73 0/1 99 75 35 40 0.53 intronic rs34609704 CCDC93 AU NM_019044 exon22 c.86379-55insA 0.423123 0.6617 Uncertain 2_118764527_T->A 2 118764527 118764527 T A snp 96.28 1/1 9 3 0 3 1.0 intronic rs4849654 CCDC93 AU NM_019044 exon22 c.86474+135T>A 0.966853 1 Uncertain 2_118766024_A->G 2 118766024 118766024 A G snp 2358.77 1/1 99 71 0 71 1.0 intronic rs10864966 CCDC93 AU NM_019044 exon23 c.88202-96A>G 0.96905 1 Uncertain 2_118771566_C->A 2 118771566 118771566 C A snp 1588.77 0/1 99 137 65 72 0.53 exonic rs11545372 CCDC93 AU synonymous SNV NM_019044 exon1 c.G6T p.G2G 0.320288 0.1409 0.358617 0.3494 0.1652 Uncertain 2_118771663_A->G 2 118771663 118771663 A G snp 2485.77 1/1 99 91 0 91 1.0 UTR5 rs12477588 CCDC93 AU 0.96905 1 0.9900 1 Uncertain 2_118771683_GCC->- 2 118771683 118771685 GCC - indel 1159.73 0/1 99 78 21 57 0.73 UTR5 rs58181584 CCDC93 AU 0.2909 0.2059 Uncertain 2_118866033_-->A 2 118866033 118866033 - A indel 570.73 0/1 99 38 18 20 0.53 UTR3 rs11407321 INSIG2 AU 0.272564 0.3581 Uncertain 2_119700096_T->C 2 119700096 119700096 T C snp 2335.77 1/1 99 70 0 70 1.0 intronic rs2077344 MARCO AU NM_006770 exon1 c.97+123T>C 0.585463 0.6458 Uncertain 2_119729221_C->T 2 119729221 119729221 C T snp 2505.77 0/1 99 220 114 106 0.48 intronic rs143636218 MARCO AU NM_006770 exon4 c.29234+111C>T 0.00698882 0.0337 Uncertain 2_119739738_C->T 2 119739738 119739738 C T snp 537.77 0/1 99 42 24 18 0.43 exonic rs199883809 MARCO AU nonsynonymous SNV NM_006770 exon11 c.C908T p.P303L 0.00199681 0.0089 0.0012 0.0157 0.807 N 0.211 D 0.09 T 0.105 T Pathogenic 2_119749477_T->G 2 119749477 119749477 T G snp 5738.77 1/1 99 205 0 205 1.0 intronic rs2304708 MARCO AU NM_006770 exon14 c.49575+26T>G 0.868411 0.9613 0.837525 0.8798 0.9743 Uncertain 2_119750066_A->G 2 119750066 119750066 A G snp 1584.77 0/1 99 127 56 71 0.56 intronic rs745989000 MARCO AU NM_006770 exon15 c.50176+14A>G 1.676e-05 0.0002 Uncertain 2_119915133_G->- 2 119915133 119915133 G - indel 1270.73 1/1 99 34 0 34 1.0 intronic rs11308896 C1QL2 AU NM_182528 exon2 c.784-28delG 0.945088 0.9554 0.961132 0.9685 0.9651 Uncertain 2_119915249_T->C 2 119915249 119915249 T C snp 2193.77 0/1 99 203 103 100 0.49 exonic rs7556873 C1QL2 AU synonymous SNV NM_182528 exon1 c.A597G p.V199V 0.586462 0.3562 0.706674 0.6894 0.3743 Uncertain 2_119915509_G->T 2 119915509 119915509 G T snp 217.77 0/1 99 38 26 12 0.32 exonic rs1317848 C1QL2 AU synonymous SNV NM_182528 exon1 c.C337A p.R113R 0.285543 0.5982 0.155532 0.3554 0.7112 Uncertain 2_119988565_G->A 2 119988565 119988565 G A snp 7110.77 1/1 99 250 0 250 1.0 intronic rs838100 STEAP3 AD NM_182915 exon2 c.22-45G>A 0.278754 0.3363 0.339261 0.3511 0.3421 Uncertain 2_120003642_C->T 2 120003642 120003642 C T snp 937.77 1/1 69 30 0 30 1.0 ncRNA_exonic rs838083 STEAP3-AS1 AU 0.88099 1 Uncertain 2_120005841_C->- 2 120005841 120005841 C - indel 725.73 0/1 99 96 57 39 0.41 ncRNA_intronic rs67985074 STEAP3-AS1 AU Uncertain 2_120012171_G->A 2 120012171 120012171 G A snp 688.77 0/1 99 51 23 28 0.55 intronic rs12711924 STEAP3 AD NM_182915 exon5 c.23671-88G>A 0.396366 0.6905 Uncertain 2_120014985_A->G 2 120014985 120014985 A G snp 1119.77 1/1 84 32 0 32 1.0 intronic rs838072 STEAP3 AD NM_182915 exon5 c.23836+2561A>G 0.970847 0.999 0.9563 1 Uncertain 2_120059895_-->GAAA 2 120059895 120059895 - GAAA indel 565.74 1/1 27 9 0 9 1.0 downstream rs10666292 C2orf76 AU 0.663339 0.4286 Uncertain 2_120059988_T->C 2 120059988 120059988 T C snp 1314.77 1/1 93 52 0 52 1.0 downstream rs1890 C2orf76 AU 0.663339 0.4286 0.729961 Uncertain 2_120060082_T->C 2 120060082 120060082 T C snp 1365.77 1/1 96 56 0 56 1.0 exonic rs1052500 C2orf76 AU nonsynonymous SNV NM_001017927 exon7 c.A347G p.K116R 0.663339 0.4286 0.724126 0.6632 0.4220 0.6 T 0.002 P -1.004 T 0.0 T 0.0 T Pathogenic 2_120069155_C->T 2 120069155 120069155 C T snp 224.77 0/1 99 24 11 13 0.54 intronic rs2289949 C2orf76 AU NM_001017927 exon2 c.9150-42C>T 0.0447284 0.119 0.013466 0.0333 0.1349 ID=COSN166260;OCCURENCE=1(breast) Uncertain 2_120075163_C->T 2 120075163 120075163 C T snp 210.77 0/1 99 37 25 12 0.32 intronic rs113231882 C2orf76 AU NM_001017927 exon3 c.15032+84C>T 0.0447284 0.119 ID=COSN166261;OCCURENCE=1(endometrium),1(breast) Uncertain 2_120078778_T->C 2 120078778 120078778 T C snp 672.77 1/1 48 26 0 26 1.0 exonic rs1132267 C2orf76 AU nonsynonymous SNV NM_001017927 exon4 c.A136G p.I46V 0.655551 0.4395 0.703242 0.6640 0.4322 0.67 T 0.0 P -1.008 T 0.004 T 0.016 T Pathogenic 2_120125029_A->G 2 120125029 120125029 A G snp 3320.77 1/1 99 108 0 108 1.0 intronic rs2084202 DBI AU NM_001178041 exon2 c.351+51A>G 0.891374 0.8929 0.8622 0.9068 Uncertain 2_120125053_C->G 2 120125053 120125053 C G snp 1549.77 0/1 99 127 68 59 0.46 intronic rs3731608 DBI AU NM_001178041 exon2 c.477-51C>G 0.160343 0.2173 0.2019 0.2452 1 T 0.000 P Uncertain 2_120125058_C->T 2 120125058 120125058 C T snp 1490.77 0/1 99 129 68 61 0.47 intronic rs3731607 DBI AU NM_001178041 exon2 c.477-46C>T 0.161941 0.2173 0.1991 0.2429 0.71 T 0.000 P -0.935 T 0.011 T 0.003 T Uncertain 2_120125363_C->A 2 120125363 120125363 C A snp 742.77 1/1 57 20 0 20 1.0 intronic rs3091405 DBI AU NM_020548 exon2 c.60+143C>A 0.288538 0.2996 Uncertain 2_120125384_G->A 2 120125384 120125384 G A snp 84.77 0/1 99 23 17 6 0.26 intronic rs3091406 DBI AU NM_001079863 exon1 c.12-123G>A 0.160543 0.2173 Uncertain 2_120125689_A->T 2 120125689 120125689 A T snp 448.77 0/1 99 30 15 15 0.5 intronic rs8192503 DBI AU NM_020548 exon3 c.603-74A>T 0.160343 0.2173 Uncertain 2_120125910_C->A 2 120125910 120125910 C A snp 645.77 0/1 99 38 15 23 0.61 intronic rs2276596 DBI AU NM_001282636 exon2 c.55+29C>A 0.160942 0.2173 0.176303 0.1772 0.2151 Uncertain 2_120125936_T->C 2 120125936 120125936 T C snp 963.77 1/1 69 33 0 33 1.0 intronic rs2244135 DBI AU NM_001282636 exon2 c.55+55T>C 0.869409 0.8651 Uncertain 2_120128482_C->T 2 120128482 120128482 C T snp 758.77 0/1 99 57 28 29 0.51 intronic rs956309 DBI AU NM_001282636 exon3 c.2552+104C>T 0.160743 0.2173 Uncertain 2_120187344_A->G 2 120187344 120187344 A G snp 181.9 1/1 15 7 0 7 1.0 intergenic rs11123523 DBI AU 0.540735 0.5575 Uncertain 2_120189404_A->G 2 120189404 120189404 A G snp 137.03 1/1 12 5 0 5 1.0 upstream rs4340531 TMEM37 AU 0.864217 0.8829 Uncertain 2_120189433_G->C 2 120189433 120189433 G C snp 221.84 1/1 18 9 0 9 1.0 upstream rs4599130 TMEM37 AU 0.864217 0.8829 0.5625 0.5 Uncertain 2_120194651_-->GTGTGC 2 120194651 120194651 - GTGTGC indel 15543.7 1/1 99 169 0 169 1.0 exonic rs3217464 TMEM37 AU nonframeshift insertion NM_183240 exon2 c.208_209insGTGTGC p.T70delinsSVP 0.896366 0.8919 0.885210 0.8633 0.8840 ID=COSM112142;OCCURENCE=1(ovary),14(large_intestine),1(upper_aerodigestive_tract) Uncertain 2_120195182_C->G 2 120195182 120195182 C G snp 134.03 1/1 12 4 0 4 1.0 UTR3 rs2278565 TMEM37 AU 0.866813 0.8909 Uncertain 2_120197670_G->A 2 120197670 120197670 G A snp 1437.77 1/1 99 49 0 49 1.0 UTR3 rs1042656 SCTR AU 0.551118 0.5565 0.589497 0.6360 0.5967 Uncertain 2_120199140_A->G 2 120199140 120199140 A G snp 6536.77 1/1 99 243 0 243 1.0 exonic rs1126839 SCTR AU synonymous SNV NM_002980 exon12 c.T1176C p.N392N 0.871006 0.9107 0.859911 0.8640 0.9106 Uncertain 2_120209689_A->G 2 120209689 120209689 A G snp 3628.77 1/1 99 130 0 130 1.0 intronic rs2587692 SCTR AU NM_002980 exon5 c.11963+34A>G 0.906749 0.9167 0.900031 0.8803 0.9253 Uncertain 2_120221585_G->A 2 120221585 120221585 G A snp 888.77 1/1 66 26 0 26 1.0 intronic rs2253870 SCTR AU NM_002980 exon8 c.24006-113G>A 0.553514 0.5794 Uncertain 2_120221984_A->C 2 120221984 120221984 A C snp 460.77 1/1 36 16 0 16 1.0 intronic rs2579647 SCTR AU NM_002980 exon8 c.24139+153A>C 0.907748 0.9167 Uncertain 2_120230901_C->T 2 120230901 120230901 C T snp 169.9 1/1 15 5 0 5 1.0 intronic rs2579640 SCTR AU NM_002980 exon10 c.33336-127C>T 0.682109 0.8571 Uncertain 2_120230998_G->A 2 120230998 120230998 G A snp 1303.77 1/1 96 43 0 43 1.0 intronic rs2579641 SCTR AU NM_002980 exon10 c.33336-30G>A 0.788938 0.8581 0.791942 0.8350 0.8816 Uncertain 2_120231165_T->C 2 120231165 120231165 T C snp 2599.77 1/1 99 96 0 96 1.0 intronic rs2587701 SCTR AU NM_002980 exon10 c.33440+33T>C 0.682708 0.8571 0.668538 0.7783 0.8802 Uncertain 2_120231303_T->C 2 120231303 120231303 T C snp 300.78 1/1 24 11 0 11 1.0 intronic rs2587702 SCTR AU NM_002980 exon10 c.33440+171T>C 0.869609 0.8581 Uncertain 2_120303820_A->T 2 120303820 120303820 A T snp 1758.77 1/1 99 60 0 60 1.0 exonic rs2579624 CFAP221 AU nonsynonymous SNV NM_001271049 exon2 c.A113T p.E38V 0.590855 0.7272 0.5140 0.7706 0.22 T 0.016 P -1.097 T Pathogenic 2_120344704_T->C 2 120344704 120344704 T C snp 1177.77 0/1 99 111 57 54 0.49 exonic rs542768514 CFAP221 AU synonymous SNV NM_001271049 exon7 c.T537C p.Y179Y 0.000199681 0.001 0.0002 0.0051 Uncertain 2_120362407_C->T 2 120362407 120362407 C T snp 5015.77 1/1 99 192 0 192 1.0 intronic rs1568540 CFAP221 AU NM_001271049 exon9 c.58661+39C>T 0.891573 0.9385 0.892357 0.9367 0.9194 Uncertain 2_120362897_T->A 2 120362897 120362897 T A snp 2427.77 1/1 99 73 0 73 1.0 intronic rs1521914 CFAP221 AU NM_001271049 exon11 c.59158+32T>A 0.97504 1 0.972372 0.9927 1 Uncertain 2_120366057_-->T 2 120366057 120366057 - T indel 769.82 0/1 17 52 6 46 0.88 intronic rs11398750 CFAP221 AU NM_001271049 exon12 c.62370-20insT 0.610024 0.6438 0.5420 0.5352 Uncertain 2_120369300_T->C 2 120369300 120369300 T C snp 4546.77 1/1 99 179 0 179 1.0 exonic rs10864986 CFAP221 AU synonymous SNV NM_001271049 exon13 c.T1293C p.V431V 0.983826 0.9921 0.986083 0.9951 0.9902 Uncertain 2_120383139_ATT->- 2 120383139 120383141 ATT - indel 2928.73 1/1 99 50 0 50 1.0 intronic rs3215307 CFAP221 AU NM_001271049 exon15 c.79451-19_79451-17delATT 0.201078 0.4276 0.145664 0.2176 0.4295 Uncertain 2_120385095_ATATAT->- 2 120385095 120385100 ATATAT - indel 536.77 1/1 21 7 0 7 1.0 intronic rs57740311 CFAP221 AU NM_001271049 exon16 c.81521-133_81521-128delATATAT Uncertain 2_120387637_G->C 2 120387637 120387637 G C snp 513.77 1/1 39 13 0 13 1.0 intronic rs12711931 CFAP221 AU NM_001271049 exon17 c.83824+106G>C 0.988618 1 Uncertain 2_120388412_G->A 2 120388412 120388412 G A snp 4566.77 1/1 99 168 0 168 1.0 exonic rs2272058 CFAP221 AU nonsynonymous SNV NM_001271049 exon19 c.G1909A p.V637I 0.976238 0.9921 0.977241 0.9926 0.9902 0.64 T 0.000 P -1.032 T 0.0 T 0.001 T Pathogenic 2_120395657_A->G 2 120395657 120395657 A G snp 307.78 1/1 24 9 0 9 1.0 intronic rs939770 CFAP221 AU NM_001271049 exon20 c.92127-177A>G 0.972244 0.9921 0.9911 0.9890 Uncertain 2_120404630_T->- 2 120404630 120404630 T - indel 2365.73 1/1 99 142 5 137 0.96 splicing rs11349518 CFAP221 AU NM_001271049 exon22 c.100919+4delT 0.772564 0.7748 0.6988 0.7188 Pathogenic 2_120409430_A->G 2 120409430 120409430 A G snp 489.77 1/1 39 13 0 13 1.0 intronic rs1521912 CFAP221 AU NM_001271049 exon23 c.105842-119A>G 0.97484 0.9921 Uncertain 2_120414083_C->T 2 120414083 120414083 C T snp 1289.77 1/1 93 38 0 38 1.0 UTR3 rs6761357 CFAP221 AU 0.591853 0.6091 0.598201 0.6406 0.6160 Uncertain 2_120438523_A->G 2 120438523 120438523 A G snp 5954.77 1/1 99 215 0 215 1.0 exonic rs13011768 TMEM177 AU nonsynonymous SNV NM_001105198 exon2 c.A94G p.I32V 0.778155 0.8284 0.771490 0.8300 0.8106 0.58 T 0.092 P -1.035 T 0.001 T 0.002 T Pathogenic 2_120438696_A->G 2 120438696 120438696 A G snp 7935.77 1/1 99 250 0 250 1.0 exonic rs939777 TMEM177 AU synonymous SNV NM_001105198 exon2 c.A267G p.Q89Q 0.980431 1 0.978395 0.9942 1 Uncertain 2_120439230_C->G 2 120439230 120439230 C G snp 6563.77 1/1 99 250 0 250 1.0 exonic rs1983406 TMEM177 AU nonsynonymous SNV NM_001105198 exon2 c.C801G p.D267E 0.778155 0.8284 0.771106 0.8300 0.8109 1 T 0.0 P -1.054 T 0.0 T 0.0 T Pathogenic 2_120439459_C->A 2 120439459 120439459 C A snp 99.28 1/1 9 3 0 3 1.0 UTR3 rs4849797 TMEM177 AU 0.78135 0.8115 Uncertain 2_120443443_A->G 2 120443443 120443443 A G snp 2432.77 1/1 99 80 0 80 1.0 intergenic rs939778 TMEM177 AU 0.739617 0.8105 Uncertain 2_120689905_A->G 2 120689905 120689905 A G snp 224.84 1/1 18 6 0 6 1.0 intronic rs2292361 PTPN4 AU NM_002830 exon14 c.122570-94A>G 0.577077 0.7698 Uncertain 2_120702972_T->A 2 120702972 120702972 T A snp 48.74 1/1 6 2 0 2 1.0 intronic rs7600358 PTPN4 AU NM_002830 exon16 c.135387+156T>A 0.724241 0.7937 Uncertain 2_120703842_A->G 2 120703842 120703842 A G snp 54.74 1/1 6 2 0 2 1.0 intronic rs2289581 PTPN4 AU NM_002830 exon17 c.136487-74A>G 0.724641 0.7946 Uncertain 2_120704164_-->T 2 120704164 120704164 - T indel 1255.73 1/1 99 40 0 40 1.0 intronic rs3214717 PTPN4 AU NM_002830 exon18 c.136721+14insT 0.607628 0.7927 0.582201 0.6607 0.8242 Uncertain 2_120704166_G->T 2 120704166 120704166 G T snp 896.77 1/1 63 37 0 37 1.0 intronic rs2289580 PTPN4 AU NM_002830 exon18 c.136721+16G>T 0.609625 0.7927 0.6609 0.8240 0.0 P -0.979 T Uncertain 2_120718322_A->G 2 120718322 120718322 A G snp 703.77 1/1 51 26 0 26 1.0 intronic rs12618050 PTPN4 AU NM_002830 exon23 c.150953-60A>G 0.579073 0.7817 Uncertain 2_120718672_T->G 2 120718672 120718672 T G snp 222.84 1/1 18 6 0 6 1.0 intronic rs6737776 PTPN4 AU NM_002830 exon23 c.151100+143T>G 0.954273 1 Uncertain 2_120725704_A->G 2 120725704 120725704 A G snp 218.84 1/1 18 6 0 6 1.0 intronic rs10194955 PTPN4 AU NM_002830 exon26 c.158119+156A>G 0.986422 1 Uncertain 2_120776973_G->- 2 120776973 120776973 G - indel 299.75 1/1 24 10 0 10 1.0 intronic rs3216703 EPB41L5 AU NM_001184937 exon2 c.180+133delG 0.622804 0.6736 Uncertain 2_120830815_A->G 2 120830815 120830815 A G snp 738.77 1/1 54 29 0 29 1.0 intronic rs3738970 EPB41L5 AU NM_001184937 exon4 c.54136+19A>G 0.623802 0.6736 0.684251 0.7244 0.7105 Uncertain 2_120851010_G->T 2 120851010 120851010 G T snp 170.9 1/1 15 5 0 5 1.0 intronic rs1599893 EPB41L5 AU NM_001184937 exon14 c.74192+158G>T 0.991414 1 Uncertain 2_120885310_G->A 2 120885310 120885310 G A snp 4786.77 1/1 99 177 0 177 1.0 exonic rs1034489 EPB41L5 AU nonsynonymous SNV NM_001184937 exon17 c.G1384A p.A462T 0.590655 0.6736 0.628095 0.6719 0.7101 1 T 0.000 P -0.933 T 0.0 T 0.0 T Pathogenic 2_120889173_G->C 2 120889173 120889173 G C snp 936.77 1/1 69 31 0 31 1.0 intronic rs3738968 EPB41L5 AU NM_001184937 exon18 c.112533-20G>C 0.590855 0.6756 0.6298 0.6648 Uncertain 2_120918585_A->C 2 120918585 120918585 A C snp 3414.77 1/1 99 124 0 124 1.0 intronic rs12617570 EPB41L5 AU NM_001184937 exon21 c.141890+35A>C 0.592452 0.6766 0.628249 0.6734 0.7113 Uncertain 2_120980428_G->C 2 120980428 120980428 G C snp 4541.77 1/1 99 152 0 152 1.0 exonic rs11550347 TMEM185B AU nonsynonymous SNV NM_024121 exon1 c.C125G p.A42G 0.567692 0.6696 0.5829 0.6043 Pathogenic 2_120997869_A->T 2 120997869 120997869 A T snp 90.28 1/1 9 3 0 3 1.0 intergenic rs6746072 TMEM185B AU 0.688299 0.7004 Uncertain 2_121036385_T->G 2 121036385 121036385 T G snp 919.77 0/1 99 93 53 40 0.43 intronic rs12711939 RALB AU NM_002881 exon2 c.114+31T>G 0.631989 0.4028 0.722359 0.6481 0.4001 Uncertain 2_121036386_T->A 2 121036386 121036386 T A snp 871.77 0/1 99 93 53 40 0.43 intronic rs12711940 RALB AU NM_002881 exon2 c.114+32T>A 0.631989 0.4028 0.722359 0.6474 0.3996 Uncertain 2_121038291_A->- 2 121038291 121038291 A - indel 287.73 0/1 94 23 7 16 0.7 intronic rs113531689 RALB AU NM_002881 exon2 c.114+1937delA Uncertain 2_121043403_G->A 2 121043403 121043403 G A snp 334.77 0/1 99 17 5 12 0.71 intronic rs4091515 RALB AU NM_002881 exon3 c.7209-46G>A 0.632388 0.4028 0.735005 0.6519 0.4008 Uncertain 2_121050989_T->A 2 121050989 121050989 T A snp 141.77 0/1 99 11 6 5 0.45 UTR3 rs1065518 RALB AU 0.633187 0.4038 Uncertain 2_121223274_C->T 2 121223274 121223274 C T snp 1180.77 0/1 99 133 87 46 0.35 ncRNA_exonic rs17050160 LINC01101 AU 0.171126 0.1577 0.1725 0.1465 Uncertain 2_121708663_A->G 2 121708663 121708663 A G snp 1075.77 1/1 81 28 0 28 1.0 intronic rs10864866 GLI2 AD NM_005270 exon3 c.153922-155A>G 0.787141 0.999 Uncertain 2_121709091_G->A 2 121709091 121709091 G A snp 182.9 1/1 15 6 0 6 1.0 intronic rs11681136 GLI2 AD NM_005270 exon3 c.154125+70G>A 0.938698 1 Uncertain 2_121713022_C->G 2 121713022 121713022 C G snp 2122.77 1/1 99 63 0 63 1.0 intronic rs6718382 GLI2 AD NM_005270 exon4 c.158110+16C>G 1 1 0.9999 1 Uncertain 2_121713030_G->A 2 121713030 121713030 G A snp 1805.77 1/1 99 49 0 49 1.0 intronic rs12614482 GLI2 AD NM_005270 exon4 c.158110+24G>A 0.785942 0.999 0.754131 0.9234 0.9996 Uncertain 2_121713041_T->C 2 121713041 121713041 T C snp 1510.77 1/1 99 37 0 37 1.0 intronic rs12617878 GLI2 AD NM_005270 exon4 c.158110+35T>C 0.785942 0.999 0.755771 0.9202 0.9995 Uncertain 2_121726447_G->A 2 121726447 121726447 G A snp 6426.77 1/1 99 241 0 241 1.0 exonic rs2592595 GLI2 AD synonymous SNV NM_005270 exon5 c.G801A p.S267S 0.827276 0.999 0.809242 0.9401 0.9997 0.99 T 1.000 P -0.987 T 0.006 T 0.01 T Likely benign 2_121729323_A->G 2 121729323 121729323 A G snp 309.78 1/1 24 9 0 9 1.0 intronic rs2677507 GLI2 AD NM_005270 exon7 c.174620-193A>G 0.778155 0.999 Uncertain 2_121729360_T->C 2 121729360 121729360 T C snp 767.77 1/1 57 24 0 24 1.0 intronic rs2592592 GLI2 AD NM_005270 exon7 c.174620-156T>C 0.876398 0.998 Uncertain 2_121729490_C->T 2 121729490 121729490 C T snp 4051.77 1/1 99 159 0 159 1.0 intronic rs2592591 GLI2 AD NM_005270 exon7 c.174620-26C>T 0.876597 0.999 0.869445 0.9558 0.9997 Uncertain 2_121729686_T->C 2 121729686 121729686 T C snp 957.77 1/1 69 32 0 32 1.0 intronic rs2592590 GLI2 AD NM_005270 exon7 c.174743+47T>C 0.876997 0.999 0.869749 0.9572 0.9996 Uncertain 2_121730138_C->G 2 121730138 121730138 C G snp 654.77 1/1 48 24 0 24 1.0 intronic rs3106962 GLI2 AD NM_005270 exon7 c.174743+499C>G 0.86262 0.999 Uncertain 2_121740190_C->T 2 121740190 121740190 C T snp 1610.77 1/1 99 49 0 49 1.0 intronic rs1968619 GLI2 AD NM_005270 exon10 c.185395-101C>T 0.931709 1 Uncertain 2_121740194_T->G 2 121740194 121740194 T G snp 1905.77 1/1 99 55 0 55 1.0 intronic rs1530580 GLI2 AD NM_005270 exon10 c.185395-97T>G 0.994409 1 Uncertain 2_121740505_C->T 2 121740505 121740505 C T snp 1981.77 1/1 99 64 0 64 1.0 intronic rs280196 GLI2 AD NM_005270 exon10 c.185560+49C>T 0.779752 0.994 0.771798 0.9077 0.9984 Uncertain 2_121744225_A->G 2 121744225 121744225 A G snp 759.77 0/1 99 86 51 35 0.41 intronic rs2276553 GLI2 AD NM_005270 exon12 c.189294+35A>G 0.519569 0.4921 0.629806 0.6410 0.5156 Uncertain 2_121746956_G->T 2 121746956 121746956 G T snp 2857.77 0/1 99 245 125 120 0.49 exonic rs3738880 GLI2 AD nonsynonymous SNV NM_005270 exon13 c.G3466T p.A1156S 0.508986 0.4722 0.623409 0.6296 0.4746 0.0 P -1.041 T 0.242 T 0.058 T CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000081284.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 2_121747406_G->A 2 121747406 121747406 G A snp 1765.77 0/1 99 146 73 73 0.5 exonic rs12711538 GLI2 AD nonsynonymous SNV NM_005270 exon13 c.G3916A p.D1306N 0.567093 0.4712 0.676873 0.6464 0.4738 0.0 P -1.028 T 0.0 T 0.0 T CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000081285.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 2_121747429_A->G 2 121747429 121747429 A G snp 1659.77 0/1 99 131 63 68 0.52 exonic rs10167980 GLI2 AD synonymous SNV NM_005270 exon13 c.A3939G p.P1313P 0.51238 0.4762 0.624077 0.6344 0.4840 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000081286.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 2_121981950_A->G 2 121981950 121981950 A G snp 1584.77 1/1 99 54 0 54 1.0 exonic rs11890430 TFCP2L1 AU synonymous SNV NM_014553 exon15 c.T1407C p.D469D 0.363818 0.2639 0.334230 0.3376 0.2592 Uncertain 2_121995151_T->C 2 121995151 121995151 T C snp 2547.77 0/1 99 204 102 102 0.5 intronic rs2260394 TFCP2L1 AU NM_014553 exon6 c.13282-47T>C 0.303714 0.4623 0.185684 0.1713 0.4395 Uncertain 2_122004596_C->G 2 122004596 122004596 C G snp 1167.77 0/1 99 63 22 41 0.65 intronic rs2252862 TFCP2L1 AU NM_014553 exon10 c.22630+50C>G 0.629193 0.6478 0.518684 0.4890 0.6563 Uncertain 2_122006430_G->C 2 122006430 122006430 G C snp 44.77 0/1 31 3 1 2 0.67 intronic rs2252628 TFCP2L1 AU NM_014553 exon12 c.24641-127G>C 0.157348 0.2837 Uncertain 2_122006700_G->C 2 122006700 122006700 G C snp 1075.77 0/1 99 76 35 41 0.54 intronic rs7562700 TFCP2L1 AU NM_014553 exon12 c.24747+37G>C 0.15635 0.2827 0.140410 0.2077 0.3762 Uncertain 2_122007378_A->C 2 122007378 122007378 A C snp 549.77 0/1 99 28 8 20 0.71 intronic rs2119021 TFCP2L1 AU NM_014553 exon13 c.25307+155A>C 0.413538 0.3333 Uncertain 2_122042750_A->T 2 122042750 122042750 A T snp 2271.77 1/1 99 89 1 88 0.99 UTR5 rs13415738 TFCP2L1 AU 0.477636 0.6508 0.428383 Uncertain 2_122098360_G->A 2 122098360 122098360 G A snp 40.77 0/1 69 5 3 2 0.4 UTR3 rs76710566 CLASP1 AU 0.0555112 0.1458 Uncertain 2_122161588_A->G 2 122161588 122161588 A G snp 44.77 0/1 33 3 1 2 0.67 intronic rs72967348 CLASP1 AU NM_015282 exon14 c.63507-355A>G 0.0599042 0.1448 Uncertain 2_122168289_A->G 2 122168289 122168289 A G snp 609.77 0/1 99 47 25 22 0.47 intronic rs74502446 CLASP1 AU NM_015282 exon16 c.70005-152A>G 0.0549121 0.1448 Uncertain 2_122184950_C->A 2 122184950 122184950 C A snp 1497.77 0/1 99 140 76 64 0.46 intronic rs72967386 CLASP1 AU NM_015282 exon19 c.86543-29C>A 0.0601038 0.1448 0.031245 0.0494 0.1315 Uncertain 2_122273187_C->G 2 122273187 122273187 C G snp 625.77 0/1 99 49 26 23 0.47 intronic rs6711830 CLASP1 AU NM_015282 exon33 c.174804-53C>G 0.319688 0.2748 Uncertain 2_122283313_G->T 2 122283313 122283313 G T snp 697.77 0/1 99 85 51 34 0.4 intronic rs12052948 CLASP1 AU NM_015282 exon34 c.184984-107G>T 0.321885 0.2758 Uncertain 2_122484976_G->A 2 122484976 122484976 G A snp 2608.77 0/1 99 208 96 112 0.54 ncRNA_intronic rs1056014 NIFK-AS1 AU 0.058107 0.131 0.0552 0.1339 Uncertain 2_122485106_A->C 2 122485106 122485106 A C snp 865.77 0/1 99 51 22 29 0.57 ncRNA_intronic rs1056006 NIFK-AS1 AU 0.240815 0.2718 Uncertain 2_122489374_C->T 2 122489374 122489374 C T snp 1463.77 0/1 99 124 60 64 0.52 intronic rs12616209 NIFK AU NM_032390 exon5 c.4372-297C>T 0.239816 0.2728 Uncertain 2_122489932_C->T 2 122489932 122489932 C T snp 219.77 0/1 99 16 8 8 0.5 intronic rs6726677 NIFK AU NM_032390 exon5 c.4481+152C>T 0.242013 0.2728 Uncertain 2_122494661_-->G 2 122494661 122494661 - G indel 415.73 0/1 99 46 33 13 0.28 upstream rs28372755 NIFK AU 0.241414 0.2728 0.1644 0.5263 Uncertain 2_125192068_T->C 2 125192068 125192068 T C snp 1622.77 0/1 99 138 70 68 0.49 exonic rs1425745 CNTNAP5 AU synonymous SNV NM_130773 exon5 c.T537C p.D179D 0.824281 0.8611 0.888548 0.9018 0.8914 Uncertain 2_125232609_G->T 2 125232609 125232609 G T snp 289.77 0/1 99 22 13 9 0.41 intronic rs4411700 CNTNAP5 AU NM_130773 exon7 c.449229+153G>T 0.741414 0.8284 Uncertain 2_125405302_C->T 2 125405302 125405302 C T snp 1554.77 0/1 99 133 68 65 0.49 intronic rs924802 CNTNAP5 AU NM_130773 exon13 c.622107-32C>T 0.395767 0.2083 0.521606 0.5599 0.2593 Uncertain 2_127447763_G->A 2 127447763 127447763 G A snp 1197.77 1/1 87 38 0 38 1.0 intronic rs6709803 GYPC AU NM_002101 exon2 c.33991-67G>A 0.614417 0.6746 0.588480 Uncertain 2_127453479_G->A 2 127453479 127453479 G A snp 764.77 1/1 57 24 0 24 1.0 intronic rs4538146 GYPC AU NM_002101 exon4 c.39682-42G>A 0.321885 0.4276 0.273874 0.2481 0.4247 Uncertain 2_127453664_A->C 2 127453664 127453664 A C snp 3327.77 1/1 99 127 0 127 1.0 exonic rs1050967 GYPC AU synonymous SNV NM_002101 exon4 c.A333C p.G111G 0.615016 0.6806 0.599185 0.5554 0.6650 Uncertain 2_127656810_G->A 2 127656810 127656810 G A snp 2291.77 0/1 99 203 108 95 0.47 intergenic rs938017 GYPC AU 0.0255591 0.0198 0.0457 0.0227 Uncertain 2_127657221_C->T 2 127657221 127657221 C T snp 913.77 1/1 69 28 0 28 1.0 intergenic rs3795873 GYPC AU 0.713259 0.8085 0.7976 0.8030 Uncertain 2_127808116_C->G 2 127808116 127808116 C G snp 1485.77 0/1 99 194 117 77 0.4 intronic rs12466912 BIN1 AR NM_139346 exon2 c.1997+18C>G 0.096246 0.1577 0.026219 0.0700 0.1441 Uncertain 2_127808127_C->G 2 127808127 127808127 C G snp 1547.77 0/1 99 186 114 72 0.39 intronic rs12466914 BIN1 AR NM_139346 exon2 c.1997+29C>G 0.096246 0.1577 0.026603 0.0702 0.1453 Uncertain 2_127808226_A->T 2 127808226 127808226 A T snp 948.77 0/1 99 115 77 38 0.33 intronic rs2071270 BIN1 AR NM_139346 exon2 c.1997+128A>T 0.398962 0.4097 Uncertain 2_127808909_G->A 2 127808909 127808909 G A snp 963.77 0/1 99 97 56 41 0.42 intronic rs6745677 BIN1 AR NM_139346 exon4 c.2718+90G>A 0.433506 0.4107 Uncertain 2_127811712_-->CA 2 127811712 127811712 - CA indel 179.73 0/1 99 13 7 6 0.46 intronic rs35339559 BIN1 AR NM_139344 exon7 c.5487+124insCA 0.384385 0.4107 Uncertain 2_127815238_G->A 2 127815238 127815238 G A snp 85.77 0/1 61 6 2 4 0.67 intronic rs3754615 BIN1 AR NM_139346 exon5 c.9076+61G>A 0.0894569 0.1577 Uncertain 2_127816536_G->A 2 127816536 127816536 G A snp 152.77 0/1 99 12 7 5 0.42 intronic rs2276580 BIN1 AR NM_139346 exon6 c.10485-50G>A 0.0898562 0.1587 0.016457 0.0676 0.1619 Uncertain 2_127816695_C->T 2 127816695 127816695 C T snp 1022.77 0/1 99 132 78 54 0.41 exonic rs2228955 BIN1 AR synonymous SNV NM_004305 exon11 c.G846A p.S282S 0.0898562 0.1587 0.017241 0.1072 0.2159 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000145350.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 2_127818193_C->T 2 127818193 127818193 C T snp 2101.77 0/1 99 183 96 87 0.48 exonic rs117721706 BIN1 AR nonsynonymous SNV NM_004305 exon10 c.G788A p.R263Q 0.00459265 0.0218 0.000077 0.0015 0.0193 0.6 T 1 D -0.912 T 0.997 D 0.947 D Pathogenic 2_127821085_C->T 2 127821085 127821085 C T snp 461.77 0/1 99 38 21 17 0.45 intronic rs2071268 BIN1 AR NM_139346 exon9 c.15045-61C>T 0.345248 0.3879 0.283399 Uncertain 2_127821207_G->A 2 127821207 127821207 G A snp 2248.77 0/1 99 164 68 96 0.59 exonic rs1137845 BIN1 AR synonymous SNV NM_004305 exon8 c.C621T p.Y207Y 0.0964457 0.1508 0.024450 0.0808 0.1483 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000145346.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 2_127821499_T->C 2 127821499 127821499 T C snp 1933.77 0/1 99 158 76 82 0.52 intronic rs72481904 BIN1 AR NM_139346 exon10 c.15407-9T>C 0.345248 0.3879 0.287175 0.3704 0.4008 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000145345.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 2_127825968_G->A 2 127825968 127825968 G A snp 121.77 0/1 99 10 5 5 0.5 intronic rs934826 BIN1 AR NM_139345 exon10 c.19730+137G>A 0.240815 0.2391 Uncertain 2_127826533_A->G 2 127826533 127826533 A G snp 1635.77 0/1 99 158 84 74 0.47 exonic rs1060743 BIN1 AR synonymous SNV NM_004305 exon6 c.T486C p.T162T 0.354633 0.4534 0.271798 0.3344 0.4374 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000145343.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 2_127834136_T->C 2 127834136 127834136 T C snp 1372.77 0/1 99 118 62 56 0.47 intronic rs2276575 BIN1 AR NM_139346 exon15 c.28100-65T>C 0.171725 0.0833 Uncertain 2_127834369_C->T 2 127834369 127834369 C T snp 304.77 0/1 99 29 15 14 0.48 intronic rs62157856 BIN1 AR NM_139346 exon15 c.28181+87C>T 0.152356 0.0833 Uncertain 2_127834384_T->C 2 127834384 127834384 T C snp 258.77 0/1 99 21 12 9 0.43 intronic rs13387613 BIN1 AR NM_139346 exon15 c.28181+102T>C 0.171725 0.0833 Uncertain 2_127839474_G->A 2 127839474 127839474 G A snp 911.77 0/1 99 101 60 41 0.41 intronic rs11682128 BIN1 AR NM_139346 exon15 c.28181+5192G>A 0.283147 0.2034 Uncertain 2_127839513_G->A 2 127839513 127839513 G A snp 655.77 0/1 99 61 33 28 0.46 intronic rs61525314 BIN1 AR NM_139346 exon15 c.28181+5231G>A 0.159145 0.0833 Uncertain 2_128015367_C->T 2 128015367 128015367 C T snp 1015.77 1/1 72 36 0 36 1.0 intronic rs4662718 ERCC3 AU,AR NM_000122 exon1 c.132+64C>T 0.813698 0.999 Uncertain 2_128028792_T->C 2 128028792 128028792 T C snp 709.77 1/1 54 22 0 22 1.0 intronic rs4150499 ERCC3 AU,AR NM_000122 exon4 c.13740-119T>C 0.819489 0.999 Uncertain 2_128029066_A->- 2 128029066 128029066 A - indel 714.73 1/1 78 35 0 35 1.0 intronic rs11345447 ERCC3 AU,AR NM_000122 exon4 c.13858+37delA 0.353235 0.4008 0.3742 0.4510 Uncertain 2_128050134_T->C 2 128050134 128050134 T C snp 762.77 1/1 57 21 0 21 1.0 intronic rs4150402 ERCC3 AU,AR NM_000122 exon13 c.35014-51T>C 0.82488 0.999 0.736484 Uncertain 2_128175875_G->A 2 128175875 128175875 G A snp 1589.77 1/1 99 50 0 50 1.0 upstream rs1799809 PROC AR,AD 0.569289 0.8194 ID=CR952209;DIS=Reduced Protein C levels;TAG=FP;PUB=7749828 FP Uncertain 2_128176195_G->A 2 128176195 128176195 G A snp 465.77 1/1 36 12 0 12 1.0 intronic rs2854700 PROC AR,AD 0.995008 1 Uncertain 2_128177377_C->T 2 128177377 128177377 C T snp 639.77 1/1 48 24 0 24 1.0 intronic rs1158867 PROC AR,AD 0.568291 0.8194 Uncertain 2_128181028_A->G 2 128181028 128181028 A G snp 3097.77 1/1 99 110 0 110 1.0 intronic rs1878844 PROC AR,AD NM_000312 exon6 c.3466+44A>G 0.995008 1 0.993346 0.9983 1 Uncertain 2_128183914_G->T 2 128183914 128183914 G T snp 420.77 1/1 33 11 0 11 1.0 intronic rs2069928 PROC AR,AD NM_000312 exon7 c.6285+111G>T 0.226238 0.3075 Uncertain 2_128246984_A->G 2 128246984 128246984 A G snp 114.77 0/1 99 8 4 4 0.5 intronic rs2288655 IWS1 AU NM_017969 exon3 c.8192+173A>G 0.15615 0.1875 Uncertain 2_128247640_T->C 2 128247640 128247640 T C snp 675.77 1/1 51 17 0 17 1.0 intronic rs334156 IWS1 AU NM_017969 exon4 c.8900+121T>C 0.935903 0.999 Uncertain 2_128249441_C->T 2 128249441 128249441 C T snp 187.9 1/1 15 7 0 7 1.0 intronic rs334152 IWS1 AU NM_017969 exon5 c.10927-105C>T 0.935903 0.999 Uncertain 2_128253784_T->C 2 128253784 128253784 T C snp 910.77 0/1 99 80 41 39 0.49 intronic rs334150 IWS1 AU NM_017969 exon8 c.15105+60T>C 0.205671 0.2321 Uncertain 2_128255606_C->T 2 128255606 128255606 C T snp 56.74 1/1 6 2 0 2 1.0 intronic rs334148 IWS1 AU NM_017969 exon9 c.17096-109C>T 0.251398 0.2321 Uncertain 2_128260344_-->A 2 128260344 128260344 - A indel 586.73 0/1 99 59 32 27 0.46 intronic rs779490599 IWS1 AU NM_017969 exon10 c.21771-46insA 0.0001 0 Uncertain 2_128264246_T->C 2 128264246 128264246 T C snp 911.77 0/1 99 112 68 44 0.39 intronic rs2078028 IWS1 AU NM_017969 exon12 c.24709+918T>C 0.188099 0.2321 Uncertain 2_128264431_C->T 2 128264431 128264431 C T snp 80.77 0/1 99 6 3 3 0.5 intronic rs334162 IWS1 AU NM_017969 exon12 c.24709+1103C>T 0.252995 0.2321 Uncertain 2_128272020_C->T 2 128272020 128272020 C T snp 710.77 0/1 99 57 27 30 0.53 intronic rs334139 IWS1 AU NM_017969 exon12 c.24709+8692C>T 0.272564 0.2321 Uncertain 2_128283652_T->C 2 128283652 128283652 T C snp 749.77 0/1 99 42 18 24 0.57 intronic rs2249646 IWS1 AU NM_017969 exon14 c.45131-98T>C 0.242412 0.2321 Uncertain 2_128284073_A->G 2 128284073 128284073 A G snp 1028.77 0/1 99 77 40 37 0.48 UTR5 rs17522960 IWS1 AU 0.180711 0.2321 Uncertain 2_128331645_C->A 2 128331645 128331645 C A snp 541.77 0/1 99 58 39 19 0.33 intronic rs76746601 MYO7B AU NM_001080527 exon7 c.14340+8C>A 0.095647 0.1438 0.054977 0.0796 0.1259 Uncertain 2_128338519_T->G 2 128338519 128338519 T G snp 1172.77 0/1 99 57 17 40 0.7 intronic rs35136538 MYO7B AU NM_001080527 exon10 c.21100+122T>G 0.352835 0.6855 Uncertain 2_128339456_G->T 2 128339456 128339456 G T snp 2168.77 0/1 99 167 84 83 0.5 intronic rs4662740 MYO7B AU NM_001080527 exon11 c.22168-9G>T 0.332468 0.6796 0.315676 0.3929 0.6732 Uncertain 2_128339758_C->G 2 128339758 128339758 C G snp 228.77 0/1 94 10 3 7 0.7 intronic rs17015424 MYO7B AU NM_001080527 exon12 c.22581-120C>G 0.474441 0.3065 Uncertain 2_128340043_G->A 2 128340043 128340043 G A snp 1065.77 0/1 99 94 45 49 0.52 intronic rs74711761 MYO7B AU NM_001080527 exon12 c.22724+22G>A 0.0297524 0.0446 0.014148 0.0258 0.0519 Uncertain 2_128341603_T->G 2 128341603 128341603 T G snp 32.77 0/1 61 5 3 2 0.4 intronic rs10928772 MYO7B AU NM_001080527 exon13 c.24399-93T>G 0.348842 0.6786 Uncertain 2_128341952_G->A 2 128341952 128341952 G A snp 1604.77 0/1 99 91 31 60 0.66 intronic MYO7B AU NM_001080527 exon13 c.24610+45G>A Uncertain 2_128342547_G->A 2 128342547 128342547 G A snp 1786.77 1/1 99 54 0 54 1.0 intronic rs4662741 MYO7B AU NM_001080527 exon14 c.25191+59G>A 0.91873 0.9861 Uncertain 2_128345960_T->C 2 128345960 128345960 T C snp 493.77 0/1 99 35 14 21 0.6 intronic rs10928773 MYO7B AU NM_001080527 exon15 c.28669-6T>C 0.390775 0.6845 0.377740 0.4165 0.6746 Uncertain 2_128346228_A->C 2 128346228 128346228 A C snp 325.78 1/1 27 10 0 10 1.0 intronic rs11673952 MYO7B AU NM_001080527 exon15 c.28833+98A>C 0.919129 0.9861 Uncertain 2_128350551_G->A 2 128350551 128350551 G A snp 2116.77 0/1 99 186 103 83 0.45 intronic rs11678239 MYO7B AU NM_001080527 exon17 c.33224+30G>A 0.475639 0.3026 0.418729 0.5245 0.3971 Uncertain 2_128350578_-->G 2 128350578 128350578 - G indel 3489.73 1/1 99 94 0 94 1.0 intronic rs397717927 MYO7B AU NM_001080527 exon17 c.33224+57insG 0.979034 0.997 Uncertain 2_128351346_T->C 2 128351346 128351346 T C snp 375.77 0/1 99 33 21 12 0.36 intronic rs7558838 MYO7B AU NM_001080527 exon18 c.33922+127T>C 0.636182 0.3165 Uncertain 2_128363530_-->C 2 128363530 128363530 - C indel 2299.73 1/1 99 66 0 66 1.0 intronic rs11382004 MYO7B AU NM_001080527 exon20 c.46206+27insC 1 1 1.0000 1 Uncertain 2_128369896_A->G 2 128369896 128369896 A G snp 1959.77 0/1 99 144 64 80 0.56 intronic rs777435 MYO7B AU NM_001080527 exon25 c.52753-154A>G 0.661542 0.3145 0.7034 0.3528 Uncertain 2_128377833_C->G 2 128377833 128377833 C G snp 654.77 0/1 99 56 25 31 0.55 intronic rs2248519 MYO7B AU NM_001080527 exon26 c.60617-81C>G 0.662939 0.3145 Uncertain 2_128378136_A->C 2 128378136 128378136 A C snp 56.74 1/1 6 2 0 2 1.0 intronic rs2245727 MYO7B AU NM_001080527 exon26 c.60744+95A>C 0.365815 0.2718 Uncertain 2_128381808_C->T 2 128381808 128381808 C T snp 3010.77 0/1 99 240 113 127 0.53 exonic rs13422424 MYO7B AU synonymous SNV NM_001080527 exon29 c.C3882T p.H1294H 0.162939 0.1448 0.151086 0.2378 0.2190 Uncertain 2_128382837_T->C 2 128382837 128382837 T C snp 144.77 0/1 99 10 5 5 0.5 intronic rs76175605 MYO7B AU NM_001080527 exon30 c.65645-105T>C 0.0752796 0.1419 Uncertain 2_128382859_C->T 2 128382859 128382859 C T snp 227.77 0/1 99 14 7 7 0.5 intronic rs2245297 MYO7B AU NM_001080527 exon30 c.65645-83C>T 0.670128 0.3333 Uncertain 2_128385224_C->G 2 128385224 128385224 C G snp 2050.77 0/1 99 181 99 82 0.45 intronic rs10164978 MYO7B AU NM_001080527 exon32 c.67588+339C>G 0.347644 0.2718 0.4668 0.255 0.02 T 0.0 P -0.965 T Uncertain 2_128385244_T->C 2 128385244 128385244 T C snp 2049.77 0/1 99 180 96 84 0.47 intronic rs58961411 MYO7B AU NM_001080527 exon32 c.67588+359T>C 0.169529 0.1438 0.2136 0.135 0.3 T 0.0 P -1.014 T Uncertain 2_128389343_C->T 2 128389343 128389343 C T snp 1461.77 0/1 99 105 47 58 0.55 intronic rs10208043 MYO7B AU NM_001080527 exon37 c.72031+15C>T 0.40635 0.2798 0.397858 0.4123 0.2941 Uncertain 2_128389422_G->C 2 128389422 128389422 G C snp 337.77 0/1 99 24 11 13 0.54 intronic rs10183797 MYO7B AU NM_001080527 exon37 c.72031+94G>C 0.409944 0.2798 Uncertain 2_128391641_T->C 2 128391641 128391641 T C snp 749.77 0/1 99 66 35 31 0.47 intronic rs146076454 MYO7B AU NM_001080527 exon40 c.74453-109T>C 0.00658946 0.0327 Uncertain 2_128392647_G->T 2 128392647 128392647 G T snp 1279.77 0/1 99 99 49 50 0.51 intronic rs60245561 MYO7B AU NM_001080527 exon42 c.75397-47G>T 0.128594 0.1329 0.109069 0.1014 0.1482 Uncertain 2_128393261_T->C 2 128393261 128393261 T C snp 1072.77 0/1 99 75 34 41 0.55 intronic rs2255178 MYO7B AU NM_001080527 exon43 c.75999-35T>C 0.67512 0.3532 0.687844 0.6618 0.4475 Uncertain 2_128393289_T->C 2 128393289 128393289 T C snp 1326.77 0/1 99 107 51 56 0.52 intronic rs2255177 MYO7B AU NM_001080527 exon43 c.75999-7T>C 0.352436 0.2847 0.312441 0.3936 0.3882 Uncertain 2_128394076_G->C 2 128394076 128394076 G C snp 2993.77 0/1 99 250 122 128 0.51 intronic MYO7B AU NM_001080527 exon45 c.76822-43G>C Uncertain 2_128394758_T->C 2 128394758 128394758 T C snp 865.77 0/1 99 101 62 39 0.39 intronic rs2255039 MYO7B AU NM_001080527 exon47 c.77593-132T>C 0.450879 0.3274 0.5001 0.3382 Uncertain 2_128394875_-->A 2 128394875 128394875 - A indel 2674.73 0/1 99 186 100 86 0.46 intronic rs59579995 MYO7B AU NM_001080527 exon47 c.77593-15insA 0.350439 0.3224 0.321012 0.4625 0.4393 Uncertain 2_128394877_C->T 2 128394877 128394877 C T snp 1741.77 0/1 99 185 104 81 0.44 intronic rs56272236 MYO7B AU NM_001080527 exon47 c.77593-13C>T 0.352436 0.3224 0.3776 0.4122 Uncertain 2_128395138_G->A 2 128395138 128395138 G A snp 117.78 0/1 25 5 1 4 0.8 UTR3 rs75591580 MYO7B AU 0.0856629 0.1379 Uncertain 2_128397807_A->C 2 128397807 128397807 A C snp 1491.77 0/1 99 101 37 64 0.63 intronic rs149020547 LIMS2 AR NM_001256542 exon3 c.989-37A>C 0.00658946 0.0327 0.0017 0.0224 Uncertain 2_128400608_C->T 2 128400608 128400608 C T snp 1014.77 0/1 99 86 41 45 0.52 exonic rs4662751 LIMS2 AR synonymous SNV NM_001161403 exon5 c.G399A p.K133K 0.545128 0.7113 0.506397 0.6034 0.7394 Uncertain 2_128400992_A->G 2 128400992 128400992 A G snp 1506.77 0/1 99 151 85 66 0.44 intronic rs2244513 LIMS2 AR NM_001256542 exon6 c.3792+345A>G 0.144768 0.1607 Uncertain 2_128401091_A->G 2 128401091 128401091 A G snp 2412.77 0/1 99 211 108 103 0.49 intronic rs2244507 LIMS2 AR NM_001256542 exon6 c.3792+444A>G 0.658147 0.3373 0.7079 0.3214 0.08 T 0.000 P -1.036 T Uncertain 2_128407499_G->A 2 128407499 128407499 G A snp 988.77 0/1 99 85 42 43 0.51 intronic rs2243805 GPR17 AU 0.542931 0.3254 Uncertain 2_128408121_-->C 2 128408121 128408121 - C indel 371.74 1/1 27 9 0 9 1.0 intronic rs5834181 GPR17 AU NM_001161415 exon4 c.703-168insC Uncertain 2_128409419_A->G 2 128409419 128409419 A G snp 194.77 0/1 99 11 5 6 0.55 UTR3 rs13021001 GPR17 AU 0.139976 0.1607 Uncertain 2_128411934_A->G 2 128411934 128411934 A G snp 1644.77 1/1 99 49 0 49 1.0 intronic rs6707277 LIMS2 AR NM_001136037 exon7 c.15142-63A>G 0.874601 0.9881 Uncertain 2_128411950_A->G 2 128411950 128411950 A G snp 2079.77 1/1 99 72 0 72 1.0 intronic rs6707282 LIMS2 AR NM_001136037 exon7 c.15142-47A>G 0.875399 0.9891 0.844610 0.8745 0.9875 Uncertain 2_128421763_C->T 2 128421763 128421763 C T snp 90.77 0/1 70 9 3 6 0.67 intronic rs34006819 LIMS2 AR NM_017980 exon10 c.25024-116C>T 0.14397 0.1518 Uncertain 2_128421829_G->A 2 128421829 128421829 G A snp 76.77 0/1 99 14 9 5 0.36 intronic rs79110686 LIMS2 AR NM_017980 exon10 c.25024-50G>A 0.346845 0.6389 0.4143 1 Uncertain 2_128431188_A->G 2 128431188 128431188 A G snp 711.77 0/1 99 48 22 26 0.54 intronic rs6430942 LIMS2 AR NM_001136037 exon10 c.34396-63A>G 0.385383 0.2847 0.343846 Uncertain 2_128431397_A->G 2 128431397 128431397 A G snp 1266.77 0/1 99 93 41 52 0.56 intronic rs7591197 LIMS2 AR NM_001136037 exon10 c.34462+80A>G 0.213658 0.1637 Uncertain 2_128431494_A->G 2 128431494 128431494 A G snp 455.77 0/1 79 17 3 14 0.82 intronic rs7591310 LIMS2 AR NM_001136037 exon10 c.34462+177A>G 0.213658 0.1637 Uncertain 2_128432534_A->G 2 128432534 128432534 A G snp 745.77 0/1 99 56 19 37 0.66 intronic rs79485780 LIMS2 AR NM_001136037 exon11 c.35732-53A>G 0.189896 0.1498 Uncertain 2_128459039_A->G 2 128459039 128459039 A G snp 189.77 0/1 99 26 16 10 0.38 UTR5 rs1048211 SFT2D3 AU 0.428315 0.3185 Uncertain 2_128459214_C->G 2 128459214 128459214 C G snp 379.77 0/1 99 30 13 17 0.57 exonic rs10206957 SFT2D3 AU nonsynonymous SNV NM_032740 exon1 c.C112G p.R38G 0.442292 0.3185 0.5496 0.3846 0.47 T 0.000 P -0.936 T 0.0 T 0.0 T Pathogenic 2_128474887_C->T 2 128474887 128474887 C T snp 382.77 0/1 99 20 7 13 0.65 intronic rs3771293 WDR33 AU NM_018383 exon6 c.10941+50C>T 0.21226 0.1587 0.161461 0.1827 0.1745 Uncertain 2_128479360_C->G 2 128479360 128479360 C G snp 2353.77 0/1 99 187 83 104 0.56 intronic rs142539724 WDR33 AU NM_018383 exon8 c.15513-49C>G 0.00359425 0.0179 0.0006 0.0080 Uncertain 2_128495645_G->A 2 128495645 128495645 G A snp 2342.77 0/1 99 224 122 102 0.46 intronic rs6754215 WDR33 AU NM_001006623 exon1 c.50+17G>A 0.509585 0.3571 0.472780 0.4406 0.4052 Uncertain 2_128520547_G->A 2 128520547 128520547 G A snp 471.77 0/1 99 35 17 18 0.51 UTR3 rs6731093 WDR33 AU 0.419329 0.3046 Uncertain 2_128522696_A->C 2 128522696 128522696 A C snp 1162.77 0/1 99 80 36 44 0.55 intronic rs141872283 WDR33 AU NM_018383 exon18 c.58851-51A>C 0.00179712 0.0079 Uncertain 2_128608184_C->T 2 128608184 128608184 C T snp 154.77 0/1 99 14 6 8 0.57 exonic rs11556864 POLR2D AU synonymous SNV NM_004805 exon3 c.G330A p.E110E 0.10623 0.1399 0.080117 0.1065 0.1745 Uncertain 2_128608272_A->- 2 128608272 128608272 A - indel 186.73 0/1 99 26 14 12 0.46 intronic rs34858843 POLR2D AU NM_004805 exon2 c.2579+13delA 0.561502 0.3621 0.5730 0.4870 Uncertain 2_128608290_T->C 2 128608290 128608290 T C snp 262.77 0/1 99 24 12 12 0.5 intronic rs6713679 POLR2D AU NM_004805 exon2 c.2579+31T>C 0.564097 0.3621 0.565844 0.5435 0.4134 Uncertain 2_128631916_T->G 2 128631916 128631916 T G snp 1088.77 0/1 99 67 30 37 0.55 intronic rs13418973 AMMECR1L AU NM_001199140 exon6 c.9179+70T>G 0.162939 0.1389 Uncertain 2_128699833_C->T 2 128699833 128699833 C T snp 647.77 0/1 99 34 14 20 0.59 intronic rs1370229 SAP130 AU NM_001145928 exon1 c.159+95C>T 0.331869 0.5 Uncertain 2_128708063_T->C 2 128708063 128708063 T C snp 1697.77 1/1 89 57 1 56 0.98 intronic rs2461463 SAP130 AU NM_001145928 exon5 c.8403+81T>C 0.939896 1 Uncertain 2_128744580_A->G 2 128744580 128744580 A G snp 1060.77 0/1 99 105 58 47 0.45 intronic rs2948068 SAP130 AU NM_001145928 exon8 c.44957+44A>G 0.703075 0.7212 0.756958 0.8192 0.7005 Uncertain 2_128747023_A->G 2 128747023 128747023 A G snp 423.77 0/1 99 29 10 19 0.66 intronic rs17015839 SAP130 AU NM_001145928 exon9 c.47558-114A>G 0.109425 0.1369 Uncertain 2_128753854_T->C 2 128753854 128753854 T C snp 2111.77 1/1 99 74 0 74 1.0 intronic rs1550174 SAP130 AU NM_001145928 exon11 c.54344-69T>C 0.939696 1 Uncertain 2_128757804_C->T 2 128757804 128757804 C T snp 1452.77 0/1 99 116 52 64 0.55 intronic rs10928793 SAP130 AU NM_001145928 exon14 c.58301-76C>T 0.776158 0.8532 Uncertain 2_128757995_A->C 2 128757995 128757995 A C snp 982.77 0/1 99 79 37 42 0.53 exonic rs17015864 SAP130 AU synonymous SNV NM_001145928 exon8 c.T981G p.S327S 0.109625 0.1379 0.073120 0.1072 0.1531 Uncertain 2_128772310_C->T 2 128772310 128772310 C T snp 1012.77 0/1 99 96 55 41 0.43 intronic rs35312230 SAP130 AU NM_001145928 exon17 c.72797-66C>T 0.349042 0.2887 Uncertain 2_128849114_T->C 2 128849114 128849114 T C snp 4610.77 1/1 99 172 0 172 1.0 intronic rs4476299 UGGT1 AU NM_020120 exon1 c.58+125T>C 0.834864 0.8522 0.9119 0.874 Uncertain 2_128855267_T->C 2 128855267 128855267 T C snp 176.9 1/1 15 5 0 5 1.0 intronic rs10928803 UGGT1 AU NM_020120 exon2 c.6207+129T>C 0.834864 0.8522 Uncertain 2_128860835_A->G 2 128860835 128860835 A G snp 1431.77 1/1 99 39 0 39 1.0 intronic rs7355336 UGGT1 AU NM_020120 exon3 c.12574-670A>G 1 1 Uncertain 2_128861811_C->T 2 128861811 128861811 C T snp 158.9 1/1 15 5 0 5 1.0 intronic rs10928804 UGGT1 AU NM_020120 exon3 c.12657+223C>T 0.823283 0.8512 Uncertain 2_128870808_T->C 2 128870808 128870808 T C snp 2538.77 1/1 99 99 0 99 1.0 exonic rs4662775 UGGT1 AU synonymous SNV NM_020120 exon6 c.T672C p.N224N 0.823283 0.8512 0.889589 0.9205 0.8361 Uncertain 2_128870952_C->T 2 128870952 128870952 C T snp 99.28 1/1 9 3 0 3 1.0 intronic rs4662776 UGGT1 AU NM_020120 exon6 c.21901+120C>T 0.834864 0.8522 Uncertain 2_128874061_G->A 2 128874061 128874061 G A snp 1014.77 1/1 75 27 0 27 1.0 intronic rs10210598 UGGT1 AU NM_020120 exon8 c.24986+144G>A 0.823283 0.8512 Uncertain 2_128877837_G->C 2 128877837 128877837 G C snp 1132.77 1/1 84 31 0 31 1.0 intronic rs4662593 UGGT1 AU NM_020120 exon9 c.28998-92G>C 0.834864 0.8522 Uncertain 2_128878014_G->A 2 128878014 128878014 G A snp 7014.77 1/1 99 248 0 248 1.0 exonic rs4662594 UGGT1 AU synonymous SNV NM_020120 exon9 c.G957A p.K319K 0.834864 0.8522 0.899508 0.9237 0.8382 Uncertain 2_128878667_T->C 2 128878667 128878667 T C snp 642.77 1/1 48 20 0 20 1.0 intronic rs6430990 UGGT1 AU NM_020120 exon10 c.29841-105T>C 0.834864 0.8522 Uncertain 2_128879022_G->C 2 128879022 128879022 G C snp 82.28 1/1 9 3 0 3 1.0 intronic rs6430991 UGGT1 AU NM_020120 exon10 c.29941+150G>C 0.834864 0.8522 Uncertain 2_128880899_T->A 2 128880899 128880899 T A snp 748.77 1/1 54 28 0 28 1.0 intronic rs4480941 UGGT1 AU NM_020120 exon11 c.31889+79T>A 0.822684 0.8512 Uncertain 2_128880993_A->G 2 128880993 128880993 A G snp 141.03 1/1 12 4 0 4 1.0 intronic rs4633871 UGGT1 AU NM_020120 exon11 c.31889+173A>G 0.834864 0.8522 Uncertain 2_128884869_A->G 2 128884869 128884869 A G snp 35.77 0/1 64 9 7 2 0.22 intronic UGGT1 AU NM_020120 exon12 c.36003-65A>G Uncertain 2_128890878_-->G 2 128890878 128890878 - G indel 6862.73 1/1 99 169 0 169 1.0 intronic rs34066685 UGGT1 AU NM_020120 exon14 c.41903+44insG 0.572684 0.6776 0.584012 0.5554 0.6575 Uncertain 2_129026227_G->T 2 129026227 129026227 G T snp 164.77 0/1 99 83 51 32 0.39 exonic rs3958533 HS6ST1 AD nonsynonymous SNV NM_004807 exon2 c.C745A p.R249S 0.3522 0.3992 1 D -0.905 T 0.997 D 0.995 D Pathogenic 2_129075797_A->C 2 129075797 129075797 A C snp 228.77 0/1 99 88 51 37 0.42 exonic rs199993343 HS6ST1 AD nonsynonymous SNV NM_004807 exon1 c.T341G p.V114G 0.2274 0.3492 1 D -0.361 T 0.96 D 0.679 D Pathogenic 2_129075877_G->T 2 129075877 129075877 G T snp 358.77 0/1 99 118 73 45 0.38 exonic rs200979099 HS6ST1 AD nonsynonymous SNV NM_004807 exon1 c.C261A p.D87E 0.4625 0.4720 1 D 0.085 D 0.997 D 0.991 D Pathogenic 2_129075961_T->C 2 129075961 129075961 T C snp 507.77 0/1 99 78 44 34 0.44 exonic rs1133923 HS6ST1 AD synonymous SNV NM_004807 exon1 c.A177G p.T59T 0.723442 0.8304 0.5605 0.7449 Uncertain 2_130737578_G->A 2 130737578 130737578 G A snp 153.77 0/1 99 47 36 11 0.23 ncRNA_intronic rs4233601 RAB6C-AS1 AU Uncertain 2_130738163_G->A 2 130738163 130738163 G A snp 2015.77 0/1 99 250 147 103 0.41 exonic rs144773989 RAB6C AU nonsynonymous SNV NM_032144 exon1 c.G475A p.A159T 0.577077 0.6101 0.6520 0.6547 0.65 T 0.993 P -0.945 T 0.003 T 0.006 T Pathogenic 2_130750446_C->A 2 130750446 130750446 C A snp 774.77 0/1 99 92 44 48 0.52 intergenic rs199529770 RAB6C AU Uncertain 2_130897055_G->A 2 130897055 130897055 G A snp 583.77 1/1 42 23 0 23 1.0 UTR3 rs28751929 CCDC74B AU 0.757788 0.6806 Uncertain 2_130897218_T->C 2 130897218 130897218 T C snp 638.77 0/1 99 52 25 27 0.52 exonic rs13006246 CCDC74B AU synonymous SNV NM_001258307 exon8 c.A855G p.A285A 0.109625 0.0288 0.195615 0.1835 0.0300 0 D 1.000 P -1.039 T Likely benign 2_130897234_C->T 2 130897234 130897234 C T snp 485.77 0/1 99 45 24 21 0.47 exonic rs3177472 CCDC74B AU nonsynonymous SNV NM_001258307 exon8 c.G839A p.R280H 0.374002 0.4435 0.340462 0.3856 0.4708 0.44 T 0.000 P -0.903 T 0.917 T 0.214 D Pathogenic 2_130898589_T->A 2 130898589 130898589 T A snp 67.28 1/1 9 3 0 3 1.0 intronic rs149075113 CCDC74B AU NM_001258307 exon5 c.1603-141T>A 0.288538 0.4395 Uncertain 2_130899804_T->C 2 130899804 130899804 T C snp 864.77 1/1 75 79 0 79 1.0 exonic rs138331089 CCDC74B AU nonsynonymous SNV NM_207310 exon3 c.A446G p.H149R 0.2119 0.3542 0.86 T 0.0 P -0.965 T 0.21 T 0.079 T Pathogenic 2_130900188_A->G 2 130900188 130900188 A G snp 1270.77 0/1 99 118 64 54 0.46 intronic rs28743163 CCDC74B AU NM_207310 exon6 c.2827+234A>G 0.505791 0.4454 0.4039 0.4524 1 T 0.0 P -0.940 T 0.0 T 0.0 T Uncertain 2_130902067_C->T 2 130902067 130902067 C T snp 930.77 0/1 99 85 43 42 0.49 intronic rs60089935 CCDC74B AU NM_001258307 exon8 c.5192-252C>T 0.3339 0.3808 Uncertain 2_130902194_C->T 2 130902194 130902194 C T snp 471.77 0/1 99 100 72 28 0.28 intronic rs60152285 CCDC74B AU NM_001258307 exon8 c.5192-125C>T 0.44369 0.4405 0.3831 0.4477 0.121 P -0.918 T Uncertain 2_130902549_C->T 2 130902549 130902549 C T snp 182.77 0/1 99 24 15 9 0.38 exonic rs34080706 CCDC74B AU synonymous SNV NM_001258307 exon1 c.G21A p.A7A 0.360224 0.4415 0.5587 0.6074 0.026 P -0.906 T Likely benign 2_130910847_G->A 2 130910847 130910847 G A snp 2423.77 0/1 99 187 89 98 0.52 intronic rs4511676 SMPD4 AU NM_001171083 exon3 c.764-44G>A 0.389377 0.4405 0.358834 0.3889 0.4650 Uncertain 2_130914797_T->C 2 130914797 130914797 T C snp 80.77 0/1 99 12 8 4 0.33 intronic rs145477722 SMPD4 AU NM_001171083 exon9 c.4696-26T>C 0.4224 0.4779 Uncertain 2_130925088_C->T 2 130925088 130925088 C T snp 407.77 0/1 99 44 26 18 0.41 exonic rs10909567 SMPD4 AU synonymous SNV NM_001171083 exon7 c.G633A p.T211T 0.359824 0.4405 0.326849 0.3787 0.4648 1.000 P -0.950 T Likely benign 2_130930819_C->T 2 130930819 130930819 C T snp 890.77 0/1 99 89 52 37 0.42 intronic rs60309319 SMPD4 AU NM_017751 exon15 c.20724-32C>T 0.359824 0.4405 0.327464 0.3788 0.4640 Uncertain 2_130939288_A->G 2 130939288 130939288 A G snp 1190.77 0/1 99 116 62 54 0.47 UTR5 rs1968676 SMPD4 AU 0.48123 0.4415 0.4043 0.4578 Uncertain 2_130939348_G->A 2 130939348 130939348 G A snp 729.77 0/1 99 71 41 30 0.42 upstream rs1817097 MZT2B AU 0.360224 0.4415 0.3757 0.4754 0 D 0.000 P -0.916 T Uncertain 2_130940090_G->T 2 130940090 130940090 G T snp 184.77 0/1 99 21 12 9 0.43 intronic rs1968675 MZT2B AU NM_025029 exon1 c.170+65G>T 0.360024 0.4425 Uncertain 2_130941034_T->G 2 130941034 130941034 T G snp 188.77 0/1 99 41 31 10 0.24 intronic rs34409208 MZT2B AU NM_025029 exon2 c.493+686T>G 0.398762 0.4415 Uncertain 2_130941065_T->C 2 130941065 130941065 T C snp 2125.77 1/1 99 79 0 79 1.0 intronic rs6737226 MZT2B AU NM_025029 exon2 c.493+717T>C 0.989417 1 0.9444 1 Uncertain 2_130947887_G->C 2 130947887 130947887 G C snp 34.77 0/1 63 5 3 2 0.4 intronic rs1975671 MZT2B AU NM_025029 exon3 c.8186-154G>C 0.369808 0.4425 Uncertain 2_130948303_T->C 2 130948303 130948303 T C snp 381.77 0/1 99 22 9 13 0.59 downstream rs12612244 MZT2B AU 0.417332 0.4425 0.4166 0.4646 Uncertain 2_130948317_-->TTTG 2 130948317 130948317 - TTTG indel 276.73 0/1 73 13 2 11 0.85 downstream rs201471106 MZT2B AU Uncertain 2_130948327_G->T 2 130948327 130948327 G T snp 123.78 0/1 27 7 1 6 0.86 downstream rs10175962 MZT2B AU 0.521565 0.5268 Uncertain 2_130949303_T->C 2 130949303 130949303 T C snp 46.77 0/1 31 3 1 2 0.67 downstream rs10200523 TUBA3E AU 0.49401 0.4425 Uncertain 2_130949411_G->T 2 130949411 130949411 G T snp 2248.77 1/1 99 83 0 83 1.0 exonic rs10208844 TUBA3E AU nonsynonymous SNV NM_207312 exon5 c.C1346A p.A449E 0.979433 1 0.947769 0.9470 1 1 T 0.001 P -0.958 T 0.0 T 0.0 T Pathogenic 2_130949491_G->A 2 130949491 130949491 G A snp 936.77 0/1 99 168 97 71 0.42 exonic rs60154251 TUBA3E AU synonymous SNV NM_207312 exon5 c.C1266T p.R422R 0.379286 0.4083 0.4629 Uncertain 2_130949553_A->G 2 130949553 130949553 A G snp 915.77 0/1 99 177 101 76 0.43 exonic rs1052422 TUBA3E AU nonsynonymous SNV NM_207312 exon5 c.T1204C p.W402R 0.172799 0.3254 0.3628 1 T 0.000 P -0.903 T 0.0 T 0.0 T Pathogenic 2_130951548_G->A 2 130951548 130951548 G A snp 2594.77 1/1 99 82 0 82 1.0 exonic rs1052319 TUBA3E AU synonymous SNV NM_207312 exon4 c.C867T p.A289A 0.8937 0.9922 Uncertain 2_130951566_G->A 2 130951566 130951566 G A snp 2148.77 1/1 99 71 0 71 1.0 exonic rs7340193 TUBA3E AU synonymous SNV NM_207312 exon4 c.C849T p.H283H 0.8440 0.9718 Uncertain 2_130951581_A->G 2 130951581 130951581 A G snp 862.77 0/1 99 65 29 36 0.55 exonic rs1052312 TUBA3E AU synonymous SNV NM_207312 exon4 c.T834C p.A278A 0.46885 0.4365 0.4116 0.4498 Uncertain 2_130951584_T->C 2 130951584 130951584 T C snp 903.77 0/1 99 66 30 36 0.55 exonic rs7340507 TUBA3E AU synonymous SNV NM_207312 exon4 c.A831G p.S277S 0.46885 0.4365 0.410349 0.4117 0.4500 Uncertain 2_130951754_G->T 2 130951754 130951754 G T snp 122.77 0/1 66 7 2 5 0.71 exonic rs13000249 TUBA3E AU nonsynonymous SNV NM_207312 exon4 c.C661A p.R221S 0.3447 0.3494 0 D 0.999 P -0.964 T 0.607 T 0.619 P Pathogenic 2_130952498_G->A 2 130952498 130952498 G A snp 194.77 0/1 58 9 2 7 0.78 intronic rs1809107 TUBA3E AU NM_207312 exon3 c.3248-153G>A 0.415935 0.4425 Uncertain 2_130952540_C->T 2 130952540 130952540 C T snp 648.77 0/1 99 35 14 21 0.6 intronic rs56151061 TUBA3E AU NM_207312 exon3 c.3248-111C>T 0.415136 0.4425 Uncertain 2_130952718_G->A 2 130952718 130952718 G A snp 1504.77 0/1 99 189 110 79 0.42 exonic rs3853852 TUBA3E AU synonymous SNV NM_207312 exon3 c.C309T p.Y103Y 0.413339 0.4425 0.3754 0.4361 Uncertain 2_130952725_C->T 2 130952725 130952725 C T snp 1375.77 0/1 99 181 109 72 0.4 exonic rs3863907 TUBA3E AU nonsynonymous SNV NM_207312 exon3 c.G302A p.S101N 0.545327 0.4425 0.4183 0.4368 1 T 0.000 P -0.914 T 0.0 T 0.0 T Pathogenic 2_130960023_T->C 2 130960023 130960023 T C snp 3060.77 0/1 99 250 92 158 0.63 intergenic rs4663031 TUBA3E AU 0.499601 0.6845 Uncertain 2_130961729_-->T 2 130961729 130961729 - T indel 917.73 0/1 99 77 33 44 0.57 intergenic rs201980950 TUBA3E AU 0.359824 0.4177 Uncertain 2_130987792_G->A 2 130987792 130987792 G A snp 1625.77 0/1 99 162 95 67 0.41 intergenic rs12992461 TUBA3E AU 0.280351 0.2024 Uncertain 2_130988166_A->G 2 130988166 130988166 A G snp 2096.77 0/1 99 250 142 108 0.43 intergenic rs201275727 TUBA3E AU Uncertain 2_130988203_C->T 2 130988203 130988203 C T snp 2257.77 0/1 99 248 136 112 0.45 intergenic rs79048658 TUBA3E AU Uncertain 2_130988216_C->G 2 130988216 130988216 C G snp 2363.77 0/1 99 250 131 119 0.48 intergenic rs76582648 TUBA3E AU Uncertain 2_130988276_C->T 2 130988276 130988276 C T snp 1772.77 0/1 99 177 92 85 0.48 intergenic rs3894178 TUBA3E AU Uncertain 2_130988410_G->A 2 130988410 130988410 G A snp 1057.77 0/1 99 170 113 57 0.34 intergenic rs202147725 TUBA3E AU Uncertain 2_130988421_C->T 2 130988421 130988421 C T snp 1092.77 0/1 99 182 119 63 0.35 intergenic rs200539608 TUBA3E AU Uncertain 2_131104049_C->T 2 131104049 131104049 C T snp 1265.77 0/1 99 121 67 54 0.45 UTR3 rs11542414 IMP4 AU 0.214856 0.3581 0.101346 0.2265 0.4454 Uncertain 2_131114042_G->T 2 131114042 131114042 G T snp 143.77 0/1 99 9 4 5 0.56 intronic rs75367913 PTPN18 AU NM_001142370 exon1 c.93+269G>T 0.217053 0.1468 Uncertain 2_131116404_T->C 2 131116404 131116404 T C snp 2101.77 0/1 99 196 104 92 0.47 intronic rs7568956 PTPN18 AU NM_014369 exon2 c.2759-35T>C 0.349441 0.3185 0.334153 0.2361 0.3285 Uncertain 2_131119829_C->A 2 131119829 131119829 C A snp 122.77 0/1 66 8 3 5 0.63 intronic rs531034019 PTPN18 AU NM_014369 exon5 c.3539+2610C>A 0.000199681 0.001 Uncertain 2_131129929_GACGGG->- 2 131129929 131129934 GACGGG - indel 1437.73 0/1 99 46 21 25 0.54 exonic rs112040677 PTPN18 AU nonframeshift deletion NM_001142370 exon9 c.792_797del p.264_266del 0.344249 0.3214 0.279630 0.0934 0.1474 ID=COSM246865;OCCURENCE=2(skin),1(prostate) Uncertain 2_131130678_T->C 2 131130678 131130678 T C snp 1162.77 0/1 99 93 49 44 0.47 intronic rs10189689 PTPN18 AU NM_001142370 exon11 c.17049-51T>C 0.344649 0.3214 0.313592 Uncertain 2_131331873_G->A 2 131331873 131331873 G A snp 290.77 0/1 99 250 188 62 0.25 ncRNA_intronic rs539177958 LOC646743 AU 0.000199681 0.0001 0 Uncertain 2_131338147_C->- 2 131338147 131338147 C - indel 322.73 0/1 99 15 5 10 0.67 ncRNA_intronic rs375190971 LOC646743 AU 0.4668 0.4413 Uncertain 2_131487673_A->C 2 131487673 131487673 A C snp 5353.77 1/1 99 192 0 192 1.0 exonic rs272128 GPR148 AU nonsynonymous SNV NM_207364 exon1 c.A949C p.T317P 0.954872 0.999 0.938951 0.9345 0.9990 0.25 T 0.001 P -0.990 T 0.0 T 0.0 T Pathogenic 2_131520178_C->G 2 131520178 131520178 C G snp 2127.77 0/1 99 195 98 97 0.5 exonic rs77687733 AMER3 AU nonsynonymous SNV NM_001105193 exon2 c.C533G p.A178G 0.125399 0.1379 0.123153 0.1674 0.1321 0.31 T 0.0 P -1.079 T 0.8 T 0.313 P Pathogenic 2_131520663_T->C 2 131520663 131520663 T C snp 7187.77 1/1 99 248 0 248 1.0 exonic rs1905235 AMER3 AU nonsynonymous SNV NM_001105193 exon2 c.T1018C p.S340P 0.993411 1 0.977011 0.9802 0.9999 1 T 0.0 P -0.987 T 0.0 T 0.0 T Pathogenic 2_131672950_A->G 2 131672950 131672950 A G snp 5020.77 1/1 99 177 0 177 1.0 intergenic rs12464119 AMER3 AU 0.578474 0.8552 0.6401 0.8667 Uncertain 2_131673223_C->T 2 131673223 131673223 C T snp 2798.77 0/1 99 250 141 109 0.44 intergenic rs3739130 AMER3 AU 0.0369409 0.0268 0.0098 0.0082 Uncertain 2_131673316_C->T 2 131673316 131673316 C T snp 3095.77 0/1 99 241 106 135 0.56 upstream rs3739129 ARHGEF4 AU 0.614217 0.8323 0.6776 0.8554 Uncertain 2_131673528_C->G 2 131673528 131673528 C G snp 2797.77 0/1 99 248 126 122 0.49 upstream rs3739128 ARHGEF4 AU 0.0385383 0.0268 0.0101 0.0084 0.0 P -1.044 T 0.058 T 0.01 T Uncertain 2_131673871_C->T 2 131673871 131673871 C T snp 547.77 0/1 99 56 31 25 0.45 upstream rs116462083 ARHGEF4 AU 0.0367412 0.0268 0.0093 0.0064 Uncertain 2_131674285_A->G 2 131674285 131674285 A G snp 1987.77 0/1 99 172 87 85 0.49 UTR5 rs3739127 ARHGEF4 AU 0.534545 0.8284 0.6433 0.8463 Uncertain 2_131674471_C->T 2 131674471 131674471 C T snp 3121.77 0/1 99 249 124 125 0.5 UTR5 rs3739126 ARHGEF4 AU 0.0421326 0.0258 0.0110 0.0083 Uncertain 2_131688587_G->A 2 131688587 131688587 G A snp 821.77 0/1 99 60 30 30 0.5 exonic rs6718816 ARHGEF4 AU synonymous SNV NM_015320 exon3 c.G57A p.A19A 0.257388 0.1607 0.247962 0.1971 0.1301 Uncertain 2_131703968_G->C 2 131703968 131703968 G C snp 226.77 0/1 99 32 21 11 0.34 intronic rs67022442 ARHGEF4 AU NM_015320 exon4 c.15551-113G>C 0.315495 0.1796 Uncertain 2_131769237_G->A 2 131769237 131769237 G A snp 1216.77 1/1 90 40 0 40 1.0 intronic rs13023338 ARHGEF4 AU NM_015320 exon5 c.96987-16280G>A 0.591653 0.7004 0.6564 0.6262 Uncertain 2_131813442_A->G 2 131813442 131813442 A G snp 48.74 1/1 6 2 0 2 1.0 intronic rs10167343 FAM168B AU NM_001009993 exon4 c.2793+174A>G 0.992612 1 Uncertain 2_131884443_G->A 2 131884443 131884443 G A snp 200.77 0/1 99 11 4 7 0.64 intronic rs185063596 PLEKHB2 AU NM_017958 exon4 c.5845+84G>A 0.00199681 0.0089 Uncertain 2_132111121_G->A 2 132111121 132111121 G A snp 306.78 1/1 27 13 0 13 1.0 intergenic rs11895354 LOC440910 AU 0.772364 0.8353 0 . Uncertain 2_132111123_T->C 2 132111123 132111123 T C snp 295.78 1/1 24 13 0 13 1.0 intergenic rs62179972 LOC440910 AU 0.772364 0.8353 0 . Uncertain 2_132111127_G->T 2 132111127 132111127 G T snp 286.78 1/1 24 13 0 13 1.0 intergenic rs13410274 LOC440910 AU 0.772364 0.8353 0 . Uncertain 2_132111153_-->GCCGCCGCCGCC 2 132111153 132111153 - GCCGCCGCCGCC indel 1056.75 1/1 24 9 0 9 1.0 intergenic LOC440910 AU Uncertain 2_132111167_G->C 2 132111167 132111167 G C snp 165.9 1/1 15 8 0 8 1.0 intergenic rs13410287 LOC440910 AU Uncertain 2_132120501_-->T 2 132120501 132120501 - T indel 3752.73 1/1 99 118 0 118 1.0 UTR3 rs146351322 WTH3DI AU 0.73722 0.8363 0.7856 0.8062 Uncertain 2_132121350_G->C 2 132121350 132121350 G C snp 264.8 1/1 21 8 0 8 1.0 UTR5 rs1881001 WTH3DI AU Uncertain 2_132200114_T->C 2 132200114 132200114 T C snp 96.28 1/1 9 3 0 3 1.0 ncRNA_exonic rs76882281 LOC401010 AU 0.387181 0.7589 Uncertain 2_132200136_C->A 2 132200136 132200136 C A snp 139.03 1/1 12 4 0 4 1.0 ncRNA_exonic rs73960420 LOC401010 AU 0.38758 0.7589 Uncertain 2_132200256_T->C 2 132200256 132200256 T C snp 961.77 1/1 69 33 0 33 1.0 ncRNA_exonic rs71345553 LOC401010 AU 0.38758 0.7589 0.3976 0.7783 Uncertain 2_132200307_G->A 2 132200307 132200307 G A snp 1548.77 1/1 99 53 0 53 1.0 ncRNA_exonic rs71345554 LOC401010 AU 0.387979 0.7589 0.3665 0.7764 Uncertain 2_132200345_C->T 2 132200345 132200345 C T snp 1768.77 1/1 99 62 0 62 1.0 ncRNA_exonic rs71428578 LOC401010 AU 0.352037 0.7579 0.3404 0.7778 Uncertain 2_132200529_A->G 2 132200529 132200529 A G snp 2670.77 1/1 99 99 0 99 1.0 ncRNA_exonic rs71345555 LOC401010 AU 0.38758 0.7589 0.3058 0.7496 CLINSIG=untested;CLNDBN=Malignant_melanoma;CLNREVSTAT=no_assertion_provided;CLNACC=RCV000065067.2;CLNDSDB=MedGen:SNOMED_CT;CLNDSDBID=C0025202:2092003 Uncertain 2_132200935_C->T 2 132200935 132200935 C T snp 750.77 1/1 57 28 0 28 1.0 ncRNA_exonic rs71345556 LOC401010 AU 0.0955 0.2993 Uncertain 2_132200984_G->A 2 132200984 132200984 G A snp 198.8 1/1 21 25 2 23 0.92 ncRNA_exonic rs113036104 LOC401010 AU 0.1123 0.3295 Uncertain 2_132200995_C->T 2 132200995 132200995 C T snp 162.84 1/1 18 23 2 21 0.91 ncRNA_exonic rs3888995 LOC401010 AU 0.1307 0.4060 Uncertain 2_132201153_A->C 2 132201153 132201153 A C snp 55.28 1/1 9 5 0 5 1.0 ncRNA_exonic rs4081121 LOC401010 AU 0.217452 0.5724 0.0024 0.0101 Uncertain 2_132201189_G->C 2 132201189 132201189 G C snp 133.9 1/1 15 8 0 8 1.0 ncRNA_exonic rs3888997 LOC401010 AU 0.319888 0.6935 0.1134 0.3996 Uncertain 2_132201202_G->A 2 132201202 132201202 G A snp 306.77 1/1 30 14 0 14 1.0 ncRNA_exonic rs3888998 LOC401010 AU 0.2221 0.6463 Uncertain 2_132201288_A->G 2 132201288 132201288 A G snp 1923.77 1/1 99 69 0 69 1.0 ncRNA_exonic rs4337511 LOC401010 AU 0.2673 0.7061 Uncertain 2_132201468_G->A 2 132201468 132201468 G A snp 5078.77 1/1 99 181 0 181 1.0 ncRNA_exonic rs4522649 LOC401010 AU 0.351637 0.7579 0.2936 0.7580 Uncertain 2_132201582_A->G 2 132201582 132201582 A G snp 4857.77 1/1 99 166 0 166 1.0 ncRNA_exonic rs1806886 LOC401010 AU 0.413938 0.7589 0.3194 0.7592 Uncertain 2_132201663_T->C 2 132201663 132201663 T C snp 5178.77 1/1 99 173 0 173 1.0 ncRNA_exonic rs1317139 LOC401010 AU 0.55012 0.7629 0.3838 0.7641 Uncertain 2_132201718_T->C 2 132201718 132201718 T C snp 6016.77 1/1 99 208 0 208 1.0 ncRNA_exonic rs2001215 LOC401010 AU 0.38758 0.7589 0.3192 0.7637 Uncertain 2_132201736_C->G 2 132201736 132201736 C G snp 6383.77 1/1 99 224 0 224 1.0 ncRNA_exonic rs2076798 LOC401010 AU 0.38758 0.7589 0.3201 0.7642 Uncertain 2_132201862_C->G 2 132201862 132201862 C G snp 5350.77 1/1 99 192 0 192 1.0 ncRNA_exonic rs1806887 LOC401010 AU 0.38758 0.7589 0.3084 0.7545 Uncertain 2_132201889_C->A 2 132201889 132201889 C A snp 4437.77 1/1 99 158 0 158 1.0 ncRNA_exonic rs2007096 LOC401010 AU 0.38758 0.7589 0.3062 0.7502 Uncertain 2_132201930_T->C 2 132201930 132201930 T C snp 3082.77 1/1 99 106 0 106 1.0 ncRNA_exonic rs13411254 LOC401010 AU 0.38758 0.7589 0.3085 0.7550 Uncertain 2_132202050_T->C 2 132202050 132202050 T C snp 1135.77 1/1 84 42 0 42 1.0 ncRNA_exonic rs13413908 LOC401010 AU 0.38758 0.7589 0.3098 0.7566 Uncertain 2_132229720_T->C 2 132229720 132229720 T C snp 2823.77 1/1 99 137 0 137 1.0 ncRNA_intronic rs3101998 RNU6-81P AU 0.356829 0.7589 0.3 0.7804 Uncertain 2_132237983_A->G 2 132237983 132237983 A G snp 793.77 1/1 60 26 0 26 1.0 exonic rs6423208 TUBA3D AU synonymous SNV NM_080386 exon4 c.A717G p.T239T 0.2622 0.7107 Uncertain 2_132240509_C->A 2 132240509 132240509 C A snp 514.77 1/1 39 14 0 14 1.0 ncRNA_intronic rs3817560 RNU6-81P AU 0.574681 0.7649 Uncertain 2_132248379_T->G 2 132248379 132248379 T G snp 1192.77 1/1 87 38 0 38 1.0 ncRNA_intronic rs12469517 RNU6-81P AU 0.548922 0.7649 Uncertain 2_132248584_T->C 2 132248584 132248584 T C snp 3388.77 1/1 99 116 0 116 1.0 ncRNA_intronic rs10182785 RNU6-81P AU Uncertain 2_132248876_A->G 2 132248876 132248876 A G snp 198.84 1/1 18 6 0 6 1.0 ncRNA_intronic rs6709245 RNU6-81P AU 0.575679 0.7649 Uncertain 2_132249372_C->T 2 132249372 132249372 C T snp 59.74 1/1 6 5 1 4 0.8 ncRNA_intronic rs6706952 RNU6-81P AU 0.800519 0.996 Uncertain 2_132249600_G->A 2 132249600 132249600 G A snp 648.77 1/1 48 50 8 42 0.84 splicing rs2272357 MZT2A AU NM_001085365 exon2 c.7964+3G>A 0.367013 0.7629 0.4129 0.7957 Pathogenic 2_132249605_G->A 2 132249605 132249605 G A snp 642.77 1/1 48 48 6 42 0.88 ncRNA_intronic rs2272358 RNU6-81P AU 0.367212 0.7629 0.4197 0.7838 Uncertain 2_132254681_A->G 2 132254681 132254681 A G snp 34.77 0/1 63 11 8 3 0.27 ncRNA_intronic rs6711982 LOC150776 AU 0.315296 0.6806 Uncertain 2_132257689_A->G 2 132257689 132257689 A G snp 52.74 1/1 6 2 0 2 1.0 ncRNA_intronic rs3811532 LOC150776 AU 0.334465 0.6806 Uncertain 2_132257830_C->T 2 132257830 132257830 C T snp 771.77 0/1 99 83 47 36 0.43 ncRNA_exonic rs13035779 LOC150776 AU 0.334665 0.6806 Uncertain 2_132258031_A->G 2 132258031 132258031 A G snp 1696.77 0/1 99 144 76 68 0.47 ncRNA_intronic rs3108473 LOC150776 AU 0.334665 0.6806 Uncertain 2_132258484_G->A 2 132258484 132258484 G A snp 176.77 0/1 99 22 14 8 0.36 ncRNA_intronic rs12469143 LOC150776 AU 0.334665 0.6806 Uncertain 2_132258593_A->G 2 132258593 132258593 A G snp 916.77 0/1 99 103 58 45 0.44 ncRNA_exonic rs13415770 LOC150776 AU 0.30012 0.6796 Uncertain 2_132258815_G->A 2 132258815 132258815 G A snp 1043.77 0/1 99 102 54 48 0.47 ncRNA_intronic rs12691986 LOC150776 AU 0.334665 0.6806 Uncertain 2_132263793_C->G 2 132263793 132263793 C G snp 105.77 0/1 99 12 8 4 0.33 ncRNA_intronic rs10190283 LOC150776 AU 0.334665 0.6806 Uncertain 2_132266015_T->A 2 132266015 132266015 T A snp 1137.77 0/1 99 88 47 41 0.47 ncRNA_intronic rs12477848 LOC150776 AU 0.334665 0.6806 Uncertain 2_132266142_G->C 2 132266142 132266142 G C snp 2436.77 0/1 99 208 103 105 0.5 ncRNA_exonic rs12691988 LOC150776 AU 0.511981 0.6845 0.3934 0.6730 Uncertain 2_132266282_G->- 2 132266282 132266282 G - indel 445.73 0/1 99 47 24 23 0.49 ncRNA_intronic rs35012291 LOC150776 AU 0.334665 0.6806 Uncertain 2_132266301_C->T 2 132266301 132266301 C T snp 174.77 0/1 99 19 11 8 0.42 ncRNA_intronic rs13011045 LOC150776 AU 0.334665 0.6806 Uncertain 2_132266303_C->A 2 132266303 132266303 C A snp 166.77 0/1 99 18 10 8 0.44 ncRNA_intronic rs13011046 LOC150776 AU 0.334665 0.6806 Uncertain 2_132266315_A->T 2 132266315 132266315 A T snp 115.77 0/1 99 10 5 5 0.5 ncRNA_intronic rs13020752 LOC150776 AU 0.334665 0.6806 Uncertain 2_132266340_A->G 2 132266340 132266340 A G snp 54.74 1/1 6 2 0 2 1.0 ncRNA_intronic rs12691989 LOC150776 AU 0.334665 0.6806 Uncertain 2_132272236_A->- 2 132272236 132272236 A - indel 240.73 0/1 99 25 13 12 0.48 ncRNA_intronic rs36013871 LOC150776 AU 0.342652 0.6806 Uncertain 2_132272326_A->G 2 132272326 132272326 A G snp 478.77 0/1 99 54 29 25 0.46 ncRNA_intronic rs12477742 LOC150776 AU 0.334465 0.6806 Uncertain 2_132272472_C->T 2 132272472 132272472 C T snp 169.9 1/1 15 5 0 5 1.0 ncRNA_intronic rs12476228 LOC150776 AU 0.334465 0.6806 Uncertain 2_132273092_T->G 2 132273092 132273092 T G snp 178.77 0/1 99 11 4 7 0.64 ncRNA_intronic rs2950565 LOC150776 AU 0.335064 0.6815 Uncertain 2_132273798_C->T 2 132273798 132273798 C T snp 53.77 0/1 82 21 17 4 0.19 ncRNA_intronic LOC150776 AU Uncertain 2_132273801_C->T 2 132273801 132273801 C T snp 55.77 0/1 84 23 19 4 0.17 ncRNA_intronic LOC150776 AU Uncertain 2_132273989_C->- 2 132273989 132273989 C - indel 888.73 0/1 99 68 31 37 0.54 ncRNA_intronic rs199565961 LOC150776 AU 0.16234 0.1895 0.2498 0.2729 Uncertain 2_132273994_T->G 2 132273994 132273994 T G snp 610.77 0/1 99 68 39 29 0.43 ncRNA_intronic rs199997150 LOC150776 AU 0.162939 0.1905 0.2582 0.2869 Uncertain 2_132274077_A->G 2 132274077 132274077 A G snp 98.77 0/1 99 20 12 8 0.4 ncRNA_intronic rs4309618 LOC150776 AU 0.315495 0.6806 Uncertain 2_132274113_A->G 2 132274113 132274113 A G snp 35.77 0/1 33 5 3 2 0.4 ncRNA_intronic rs4493309 LOC150776 AU 0.334665 0.6806 Uncertain 2_132274378_C->T 2 132274378 132274378 C T snp 155.77 0/1 99 17 9 8 0.47 ncRNA_intronic rs117626028 LOC150776 AU 0.028754 0.0823 Uncertain 2_132274474_G->A 2 132274474 132274474 G A snp 346.77 0/1 99 27 12 15 0.56 ncRNA_exonic rs13010688 LOC150776 AU 0.334265 0.6796 0.2838 0.6685 Uncertain 2_132275343_G->T 2 132275343 132275343 G T snp 3481.77 0/1 99 250 120 130 0.52 ncRNA_exonic rs12691998 LOC150776 AU 0.510982 0.6845 0.3967 0.6744 Uncertain 2_132275396_T->C 2 132275396 132275396 T C snp 3565.77 0/1 99 245 111 134 0.55 ncRNA_exonic rs2277878 LOC150776 AU 0.58127 0.7599 0.4755 0.7384 Uncertain 2_132276039_C->T 2 132276039 132276039 C T snp 558.77 0/1 99 55 30 25 0.45 ncRNA_intronic rs2463327 LOC150776 AU 0.298922 0.6796 Uncertain 2_132276254_A->G 2 132276254 132276254 A G snp 153.77 0/1 99 28 18 10 0.36 ncRNA_exonic rs28621583 LOC150776 AU 0.335264 0.6806 Uncertain 2_132276530_C->T 2 132276530 132276530 C T snp 36.77 0/1 33 3 1 2 0.67 ncRNA_intronic rs12052334 LOC150776 AU 0.334864 0.6806 Uncertain 2_132276650_G->C 2 132276650 132276650 G C snp 483.77 0/1 99 55 33 22 0.4 ncRNA_exonic rs28712373 LOC150776 AU Uncertain 2_132277686_C->T 2 132277686 132277686 C T snp 734.77 0/1 99 68 35 33 0.49 ncRNA_exonic rs9287520 LOC150776 AU 0.334665 0.6806 0.2923 0.6736 Uncertain 2_132277962_T->C 2 132277962 132277962 T C snp 870.77 0/1 99 70 32 38 0.54 ncRNA_exonic rs7560296 LOC150776 AU 0.51278 0.6845 0.3936 0.6856 Uncertain 2_132277984_G->A 2 132277984 132277984 G A snp 777.77 0/1 99 64 29 35 0.55 ncRNA_exonic rs10209980 LOC150776 AU 0.334665 0.6806 0.2771 0.6879 Uncertain 2_132286046_A->G 2 132286046 132286046 A G snp 757.77 0/1 99 88 50 38 0.43 ncRNA_intronic rs3101992 RNU6-81P AU 0.483427 0.6111 0.3365 0.5542 Uncertain 2_132286061_A->G 2 132286061 132286061 A G snp 777.77 0/1 99 87 48 39 0.45 ncRNA_intronic rs60469601 RNU6-81P AU 0.3223 0.5498 Uncertain 2_132286155_G->C 2 132286155 132286155 G C snp 250.77 0/1 99 29 18 11 0.38 ncRNA_intronic rs10174409 RNU6-81P AU 0.298522 0.6786 Uncertain 2_132287824_C->T 2 132287824 132287824 C T snp 1408.77 0/1 99 134 67 67 0.5 ncRNA_intronic rs10187823 RNU6-81P AU 0.517372 0.6835 0.3896 0.6791 Uncertain 2_132288102_T->C 2 132288102 132288102 T C snp 55.77 0/1 84 71 59 12 0.17 ncRNA_intronic rs116538008 RNU6-81P AU 0.38099 0.5337 0.045808 0.0218 0.0425 Uncertain 2_132288362_T->C 2 132288362 132288362 T C snp 732.77 0/1 99 155 79 76 0.49 exonic rs201632382 CCDC74A AU nonsynonymous SNV NM_001258304 exon3 c.T632C p.M211T 0.2799 0.5466 1 T 0.0 P -0.931 T 0.0 T 0.001 T Pathogenic 2_132290242_G->C 2 132290242 132290242 G C snp 64.77 0/1 93 70 49 21 0.3 exonic rs745689422 CCDC74A AU nonsynonymous SNV NM_001258306 exon5 c.G566C p.G189A 0.0002 0.0007 0.6 T 1.000 N -1.033 T 0.981 D 0.671 D Pathogenic 2_132290399_G->A 2 132290399 132290399 G A snp 380.77 0/1 99 44 23 21 0.48 ncRNA_intronic rs57007130 RNU6-81P AU 0.539537 0.6815 0.410321 0.3964 0.6648 Uncertain 2_132290441_G->A 2 132290441 132290441 G A snp 107.77 0/1 99 49 41 8 0.16 exonic rs76069883 CCDC74A AU nonsynonymous SNV NM_001258305 exon5 c.G688A p.G230S 0.0140 0.0166 0.06 T 1 D -0.967 T 0.006 T 0.002 T Pathogenic 2_132491544_C->G 2 132491544 132491544 C G snp 2149.77 1/1 99 86 0 86 1.0 intronic rs7599401 C2orf27A AU 0.973842 1 Uncertain 2_132494171_G->A 2 132494171 132494171 G A snp 2556.77 1/1 99 105 0 105 1.0 intronic rs4850247 C2orf27A AU 0.451478 0.629 Uncertain 2_132494272_A->G 2 132494272 132494272 A G snp 1070.77 1/1 81 34 0 34 1.0 intronic rs4850248 C2orf27A AU 0.973442 1 Uncertain 2_132586854_C->T 2 132586854 132586854 C T snp 62.74 1/1 6 4 0 4 1.0 intergenic rs4558626 C2orf27B AU 0.219848 0.5308 Uncertain 2_132586866_C->A 2 132586866 132586866 C A snp 62.74 1/1 6 4 0 4 1.0 intergenic rs186960073 C2orf27B AU 0.219848 0.5308 Uncertain 2_132587057_A->C 2 132587057 132587057 A C snp 56.74 1/1 6 2 0 2 1.0 intergenic rs7369031 C2orf27B AU 0.554113 0.75 Uncertain 2_132591808_T->G 2 132591808 132591808 T G snp 2452.77 1/1 99 89 0 89 1.0 intergenic rs55998054 C2orf27B AU 0.21266 0.5298 Uncertain 2_132592178_T->C 2 132592178 132592178 T C snp 1819.77 1/1 99 67 0 67 1.0 intergenic rs9751367 C2orf27B AU 0.555511 0.749 Uncertain 2_132592403_T->C 2 132592403 132592403 T C snp 361.77 1/1 30 11 0 11 1.0 intergenic rs9711401 C2orf27B AU 0.787141 0.8145 Uncertain 2_132593636_C->T 2 132593636 132593636 C T snp 742.77 1/1 54 25 0 25 1.0 intergenic rs59199382 C2orf27B AU 0.378395 0.6071 Uncertain 2_133014450_C->A 2 133014450 133014450 C A snp 98.77 0/1 99 12 6 6 0.5 ncRNA_intronic ANKRD30BL AU Uncertain 2_133014458_A->G 2 133014458 133014458 A G snp 284.77 0/1 99 18 6 12 0.67 ncRNA_intronic rs80282602 ANKRD30BL AU Uncertain 2_133014462_T->A 2 133014462 133014462 T A snp 84.77 0/1 99 20 11 9 0.45 ncRNA_intronic rs75621781 ANKRD30BL AU Uncertain 2_133014466_G->C 2 133014466 133014466 G C snp 40.77 0/1 69 27 22 5 0.19 ncRNA_intronic ANKRD30BL AU Uncertain 2_133014497_G->C 2 133014497 133014497 G C snp 243.77 0/1 99 64 52 12 0.19 ncRNA_intronic rs776976338 ANKRD30BL AU 0.4908 0.4915 Uncertain 2_133014504_G->T 2 133014504 133014504 G T snp 285.77 0/1 99 79 64 15 0.19 ncRNA_intronic rs79813268 ANKRD30BL AU 0.4919 0.4916 Uncertain 2_133014510_T->C 2 133014510 133014510 T C snp 1159.77 0/1 99 88 44 44 0.5 ncRNA_intronic rs9287404 ANKRD30BL AU 0.4977 0.4987 Uncertain 2_133014513_G->A 2 133014513 133014513 G A snp 527.77 0/1 99 96 68 28 0.29 ncRNA_intronic rs77333908 ANKRD30BL AU 0.0039 0.0035 Uncertain 2_133014552_C->T 2 133014552 133014552 C T snp 1422.77 0/1 99 182 115 67 0.37 ncRNA_exonic rs780504024 MIR663B AU 0.0455 0.0293 Uncertain 2_133014556_C->T 2 133014556 133014556 C T snp 59.77 0/1 88 195 174 21 0.11 ncRNA_exonic rs773288520 MIR663B AU 0.0178 0.0125 Uncertain 2_133014592_G->A 2 133014592 133014592 G A snp 1879.77 0/1 99 249 158 91 0.37 ncRNA_exonic rs545157048 MIR663B AU 0.000399361 0.0373 0.0236 Uncertain 2_133014602_G->C 2 133014602 133014602 G C snp 3931.77 0/1 99 246 92 154 0.63 ncRNA_exonic rs75245503 MIR663B AU 0.4982 0.4989 Uncertain 2_133014612_A->C 2 133014612 133014612 A C snp 3904.77 0/1 99 249 94 155 0.62 ncRNA_exonic rs74853538 MIR663B AU 0.4980 0.4987 Uncertain 2_133014617_A->G 2 133014617 133014617 A G snp 81.77 0/1 99 249 224 25 0.1 ncRNA_exonic rs200194626 MIR663B AU 0.0025 0.0010 Uncertain 2_133014619_C->T 2 133014619 133014619 C T snp 1536.77 0/1 99 248 169 79 0.32 ncRNA_exonic rs78327226 MIR663B AU 0.0348 0.0131 Uncertain 2_133014640_C->T 2 133014640 133014640 C T snp 1559.77 0/1 99 247 160 87 0.35 ncRNA_exonic rs78867621 MIR663B AU 0.0418 0.0142 Uncertain 2_133014651_-->C 2 133014651 133014651 - C indel 5534.73 0/1 99 244 86 158 0.65 ncRNA_exonic rs111708138 MIR663B AU 0.4863 0.4874 Uncertain 2_133014657_G->A 2 133014657 133014657 G A snp 2167.77 0/1 99 244 147 97 0.4 ncRNA_intronic rs113237573 ANKRD30BL AU 0.0613 0.0175 Uncertain 2_133014678_A->G 2 133014678 133014678 A G snp 4230.77 0/1 99 250 84 166 0.66 ncRNA_intronic rs72869462 ANKRD30BL AU 0.4971 0.4969 Uncertain 2_133014703_T->C 2 133014703 133014703 T C snp 4624.77 0/1 99 246 78 168 0.68 ncRNA_intronic rs72869464 ANKRD30BL AU 0.4978 0.4957 Uncertain 2_133014721_T->C 2 133014721 133014721 T C snp 4581.77 0/1 99 234 70 164 0.7 ncRNA_intronic rs72869465 ANKRD30BL AU Uncertain 2_133014751_T->C 2 133014751 133014751 T C snp 1518.77 0/1 99 186 126 60 0.32 ncRNA_intronic rs75204936 ANKRD30BL AU Uncertain 2_133014776_C->T 2 133014776 133014776 C T snp 998.77 0/1 99 124 87 37 0.3 ncRNA_intronic rs72869466 ANKRD30BL AU Uncertain 2_133014777_A->G 2 133014777 133014777 A G snp 1074.77 0/1 99 122 86 36 0.3 ncRNA_intronic rs72869467 ANKRD30BL AU Uncertain 2_133014786_G->A 2 133014786 133014786 G A snp 1028.77 0/1 99 102 61 41 0.4 ncRNA_intronic rs72869468 ANKRD30BL AU Uncertain 2_133014805_C->T 2 133014805 133014805 C T snp 631.77 0/1 99 68 44 24 0.35 ncRNA_intronic rs72869469 ANKRD30BL AU Uncertain 2_133014822_C->T 2 133014822 133014822 C T snp 464.77 0/1 99 50 33 17 0.34 ncRNA_intronic rs75678647 ANKRD30BL AU Uncertain 2_133014832_C->T 2 133014832 133014832 C T snp 380.77 0/1 99 34 21 13 0.38 ncRNA_intronic rs76727711 ANKRD30BL AU Uncertain 2_133014847_A->G 2 133014847 133014847 A G snp 138.77 0/1 88 8 3 5 0.63 ncRNA_intronic rs56200609 ANKRD30BL AU 0.22504 0.121 Uncertain 2_133075639_G->T 2 133075639 133075639 G T snp 108.77 0/1 99 9 5 4 0.44 exonic rs7340191 ZNF806 AU nonsynonymous SNV NM_001304449 exon4 c.G1100T p.G367V Pathogenic 2_133075664_T->G 2 133075664 133075664 T G snp 291.77 0/1 99 29 19 10 0.34 exonic rs7340499 ZNF806 AU nonsynonymous SNV NM_001304449 exon4 c.T1125G p.D375E Pathogenic 2_133075674_G->C 2 133075674 133075674 G C snp 364.77 0/1 99 37 25 12 0.32 exonic rs7340192 ZNF806 AU nonsynonymous SNV NM_001304449 exon4 c.G1135C p.G379R Pathogenic 2_133075726_A->G 2 133075726 133075726 A G snp 881.77 0/1 99 90 54 36 0.4 exonic rs2598810 ZNF806 AU nonsynonymous SNV NM_001304449 exon4 c.A1187G p.E396G Pathogenic 2_133075904_-->A 2 133075904 133075904 - A indel 2344.73 0/1 99 178 97 81 0.46 exonic rs113311843 ZNF806 AU frameshift insertion NM_001304449 exon4 c.1366dupA p.Y455fs Pathogenic 2_133402607_C->T 2 133402607 133402607 C T snp 434.77 0/1 99 32 14 18 0.56 UTR3 rs1131671 LYPD1 AU 0.474241 0.3363 Uncertain 2_133425912_C->T 2 133425912 133425912 C T snp 1156.77 0/1 99 103 51 52 0.5 intronic rs2709533 LYPD1 AU NM_001077427 exon2 c.22355-60C>T 0.493211 0.6528 Uncertain 2_133426183_G->C 2 133426183 133426183 G C snp 330.77 0/1 99 22 11 11 0.5 intronic rs2709532 LYPD1 AU NM_001077427 exon2 c.22493+73G>C 0.495208 0.6498 Uncertain 2_133472386_A->- 2 133472386 133472386 A - indel 69.73 0/1 99 27 14 13 0.48 intronic rs11329925 NCKAP5 AU NM_207363 exon2 c.52338-10813delA Uncertain 2_133539460_A->T 2 133539460 133539460 A T snp 1081.77 1/1 81 32 0 32 1.0 intronic rs6717116 NCKAP5 AU NM_207363 exon7 c.108651-52A>T 0.536741 0.745 Uncertain 2_133539566_G->A 2 133539566 133539566 G A snp 4378.77 1/1 99 162 1 161 0.99 exonic rs6730282 NCKAP5 AU synonymous SNV NM_207363 exon14 c.C4818T p.H1606H 0.535942 0.745 0.510405 0.5073 0.7571 Uncertain 2_133540605_G->T 2 133540605 133540605 G T snp 2586.77 0/1 99 232 126 106 0.46 exonic rs13016342 NCKAP5 AU nonsynonymous SNV NM_207363 exon14 c.C3779A p.P1260Q 0.121006 0.0655 0.168289 0.1393 0.0660 0.21 T 1.0 P -1.056 T 0.996 D 0.931 D Pathogenic 2_133541444_T->C 2 133541444 133541444 T C snp 3130.77 1/1 99 113 0 113 1.0 exonic rs12691829 NCKAP5 AU synonymous SNV NM_207363 exon14 c.A2940G p.P980P 0.717452 0.871 0.628798 0.6114 0.8856 Uncertain 2_133541454_A->G 2 133541454 133541454 A G snp 3180.76 1/1 99 115 0 115 1.0 exonic rs12691830 NCKAP5 AU nonsynonymous SNV NM_207363 exon14 c.T2930C p.I977T 0.704872 0.871 0.606635 0.5910 0.8856 0.79 T 0.877 P -1.029 T 0.0 T 0.0 T Pathogenic 2_133541575_C->T 2 133541575 133541575 C T snp 3200.06 1/1 99 114 0 114 1.0 exonic rs12611515 NCKAP5 AU nonsynonymous SNV NM_207363 exon14 c.G2809A p.V937I 0.372804 0.497 0.336779 0.3256 0.4551 0.25 T 1.000 P -0.947 T 0.003 T 0.003 T Pathogenic 2_133542014_T->C 2 133542014 133542014 T C snp 5343.77 1/1 99 182 0 182 1.0 exonic rs12616282 NCKAP5 AU synonymous SNV NM_207363 exon14 c.A2370G p.A790A 0.708466 0.8681 0.612342 0.6003 0.8835 Uncertain 2_133542545_G->A 2 133542545 133542545 G A snp 6403.77 1/1 99 224 1 223 1.0 exonic rs10191147 NCKAP5 AU synonymous SNV NM_207363 exon14 c.C1839T p.S613S 0.353634 0.494 0.312572 0.2961 0.4501 Uncertain 2_133542585_C->G 2 133542585 133542585 C G snp 3006.77 0/1 99 247 128 119 0.48 exonic rs17325719 NCKAP5 AU nonsynonymous SNV NM_207363 exon14 c.G1799C p.S600T 0.081869 0.0526 0.131605 0.1242 0.0583 0.01 T 1.0 P -1.129 T 0.882 T 0.367 P Pathogenic 2_133554288_A->G 2 133554288 133554288 A G snp 5934.77 1/1 99 201 0 201 1.0 exonic rs1868076 NCKAP5 AU synonymous SNV NM_207363 exon12 c.T822C p.R274R 0.690695 0.8899 0.597481 0.6214 0.9019 Uncertain 2_133618220_A->G 2 133618220 133618220 A G snp 824.77 0/1 99 61 31 30 0.49 ncRNA_intronic rs1447549 MIR7853 AU 0.337859 0.4067 0.255792 0.2910 0.4581 Uncertain 2_133721547_G->A 2 133721547 133721547 G A snp 491.77 0/1 99 29 14 15 0.52 ncRNA_intronic rs55724759 MIR7853 AU 0.207867 0.4851 Uncertain 2_133881425_G->A 2 133881425 133881425 G A snp 2435.77 0/1 99 223 122 101 0.45 ncRNA_intronic rs2278457 MIR7853 AU 0.0978435 0.1994 Uncertain 2_134275130_T->C 2 134275130 134275130 T C snp 1395.77 0/1 99 135 75 60 0.44 UTR5 rs12616987 NCKAP5 AU 0.0109824 0.0526 0.001117 0.0032 0.0565 Uncertain 2_134884700_G->A 2 134884700 134884700 G A snp 1190.77 0/1 99 113 65 48 0.42 ncRNA_exonic rs6430498 MIR3679 AU 0.391773 0.372 0.3776 0.3429 Uncertain 2_135075378_G->A 2 135075378 135075378 G A snp 285.77 0/1 99 21 11 10 0.48 intronic rs3791280 MGAT5 AU NM_002410 exon3 c.63202+202G>A 0.21865 0.25 Uncertain 2_135076090_C->T 2 135076090 135076090 C T snp 56.74 1/1 6 2 0 2 1.0 intronic rs4954133 MGAT5 AU NM_002410 exon4 c.64246-130C>T 0.957268 1 Uncertain 2_135076111_C->G 2 135076111 135076111 C G snp 258.8 1/1 21 7 0 7 1.0 intronic rs4954134 MGAT5 AU NM_002410 exon4 c.64246-109C>G 0.957867 1 Uncertain 2_135096097_T->C 2 135096097 135096097 T C snp 1341.77 1/1 99 43 0 43 1.0 intronic rs7598410 MGAT5 AU NM_002410 exon6 c.84017+106T>C 0.966454 1 Uncertain 2_135102454_A->- 2 135102454 135102454 A - indel 920.73 0/1 99 60 32 28 0.47 intronic rs3214771 MGAT5 AU NM_002410 exon8 c.90526-46delA 0.291933 0.3075 0.290815 0.2924 0.3327 Uncertain 2_135102742_A->G 2 135102742 135102742 A G snp 1646.77 0/1 99 130 68 62 0.48 intronic rs2290048 MGAT5 AU NM_002410 exon8 c.90661+107A>G 0.292532 0.3105 Uncertain 2_135160755_G->A 2 135160755 135160755 G A snp 2339.77 0/1 99 159 67 92 0.58 intronic rs3748900 MGAT5 AU NM_002410 exon11 c.148734+47G>A 0.353834 0.4296 0.293339 0.3473 0.4407 Uncertain 2_135308431_A->G 2 135308431 135308431 A G snp 345.78 1/1 27 9 0 9 1.0 intronic rs59357769 TMEM163 AU NM_030923 exon5 c.93946+199A>G 0.586062 0.7788 Uncertain 2_135470855_G->A 2 135470855 135470855 G A snp 1383.77 0/1 99 111 56 55 0.5 exonic rs16830938 TMEM163 AU synonymous SNV NM_030923 exon2 c.C237T p.H79H 0.0117812 0.0327 0.001615 0.0059 0.0363 ID=COSM148940;OCCURENCE=1(stomach) Uncertain 2_135602601_T->A 2 135602601 135602601 T A snp 272.8 1/1 21 9 0 9 1.0 intronic rs6430545 ACMSD AU NM_138326 exon2 c.6550-201T>A 0.736422 0.8978 Uncertain 2_135616891_G->C 2 135616891 135616891 G C snp 1781.77 0/1 99 186 112 74 0.4 exonic rs117363436 ACMSD AU nonsynonymous SNV NM_138326 exon3 c.G163C p.D55H 0.00199681 0.0099 0.0011 0.0148 0.02 T 1 D -0.259 T 0.938 T 0.864 D Pathogenic 2_135629927_C->T 2 135629927 135629927 C T snp 1003.77 1/1 72 33 0 33 1.0 ncRNA_intronic rs12469941 CCNT2-AS1 AU 0.743411 0.8988 Uncertain 2_135677268_G->A 2 135677268 135677268 G A snp 229.77 0/1 99 31 19 12 0.39 intronic rs3769024 CCNT2 AU NM_001241 exon2 c.955-111G>A 0.414337 0.4881 Uncertain 2_135677471_-->GTTT 2 135677471 135677471 - GTTT indel 2003.73 0/1 99 68 34 34 0.5 intronic rs3841862 CCNT2 AU NM_001241 exon2 c.1037+10insGTTT 0.417332 0.4881 0.322524 0.3331 0.4694 Uncertain 2_135694354_G->C 2 135694354 135694354 G C snp 276.77 0/1 99 30 19 11 0.37 intronic rs1823118 CCNT2 AU NM_001241 exon3 c.17986-56G>C 0.412939 0.4851 Uncertain 2_135694379_C->T 2 135694379 135694379 C T snp 378.77 0/1 99 48 31 17 0.35 intronic rs1374289 CCNT2 AU NM_001241 exon3 c.17986-31C>T 0.734625 0.877 0.549669 0.5891 0.8752 Uncertain 2_135700151_A->T 2 135700151 135700151 A T snp 216.77 0/1 99 26 14 12 0.46 intronic rs3816339 CCNT2 AU NM_001241 exon5 c.23757-30A>T 0.416134 0.4851 0.324977 0.3577 0.4781 Uncertain 2_135703339_T->- 2 135703339 135703339 T - indel 1016.73 0/1 99 70 29 41 0.59 intronic rs398090678 CCNT2 AU NM_001241 exon6 c.27246-331delT 0.4807 0.5792 Uncertain 2_135703650_-->T 2 135703650 135703650 - T indel 994.73 0/1 99 156 59 97 0.62 intronic rs201814332 CCNT2 AU NM_001241 exon6 c.27246-20insT 0.2388 0.2913 Uncertain 2_135705558_G->A 2 135705558 135705558 G A snp 815.77 1/1 60 24 0 24 1.0 intronic rs1979033 CCNT2 AU NM_001241 exon7 c.29045+89G>A 0.880791 1 Uncertain 2_135710322_A->G 2 135710322 135710322 A G snp 817.77 0/1 99 98 58 40 0.41 intronic rs10166142 CCNT2 AU NM_001241 exon8 c.33857+41A>G 0.702875 0.877 0.525611 0.5870 0.8763 Uncertain 2_135711516_C->T 2 135711516 135711516 C T snp 1285.77 0/1 99 162 104 58 0.36 exonic rs3814355 CCNT2 AU synonymous SNV NM_001241 exon9 c.C1491T p.D497D 0.732827 0.877 0.552591 0.5894 0.8755 Uncertain 2_135711657_G->A 2 135711657 135711657 G A snp 2296.77 0/1 99 227 125 102 0.45 exonic rs3814354 CCNT2 AU synonymous SNV NM_001241 exon9 c.G1632A p.K544K 0.702077 0.877 0.525142 0.5800 0.8755 Uncertain 2_135740876_A->G 2 135740876 135740876 A G snp 2959.77 0/1 99 214 96 118 0.55 intronic rs60969462 MAP3K19 AU NM_025052 exon3 c.18826-369A>G 0.232029 0.1617 0.203174 0.2386 0.1541 0 D 0.000 P -0.995 T 0.215 T 0.069 T Uncertain 2_135741061_G->A 2 135741061 135741061 G A snp 279.77 0/1 54 10 2 8 0.8 intronic rs12623713 MAP3K19 AU NM_025052 exon3 c.18826-184G>A 0.36262 0.5417 Uncertain 2_135745392_G->A 2 135745392 135745392 G A snp 2453.77 0/1 99 214 112 102 0.48 exonic rs11888766 MAP3K19 AU synonymous SNV NM_001018044 exon5 c.C711T p.D237D 0.239417 0.1647 0.208596 0.2409 0.1592 Uncertain 2_135745545_C->T 2 135745545 135745545 C T snp 3418.77 0/1 99 250 113 137 0.55 exonic rs11899779 MAP3K19 AU synonymous SNV NM_001018044 exon5 c.G558A p.R186R 0.36262 0.5417 0.259111 0.2940 0.5371 Uncertain 2_135745722_A->G 2 135745722 135745722 A G snp 2648.77 0/1 99 248 130 118 0.48 exonic rs10928526 MAP3K19 AU synonymous SNV NM_001018044 exon5 c.T381C p.S127S 0.362819 0.5417 0.259342 0.2949 0.5376 Uncertain 2_135748873_AAAAC->- 2 135748873 135748877 AAAAC - indel 467.73 0/1 99 18 10 8 0.44 intronic rs144837592 MAP3K19 AU NM_025052 exon5 c.26687-233_26687-229delAAAAC Uncertain 2_135762980_C->T 2 135762980 135762980 C T snp 761.77 0/1 99 61 26 35 0.57 intronic rs7606415 MAP3K19 AU NM_025052 exon8 c.40585-24C>T 0.340455 0.3849 0.235891 0.2323 0.3829 Uncertain 2_135887514_-->T 2 135887514 135887514 - T indel 81.73 0/1 99 14 7 7 0.5 intronic RAB3GAP1 AR NM_012233 exon12 c.77687-50insT 0.0392 0.0584 Uncertain 2_135893372_A->G 2 135893372 135893372 A G snp 3539.77 0/1 99 249 105 144 0.58 exonic rs10445686 RAB3GAP1 AR nonsynonymous SNV NM_012233 exon17 c.A1793G p.N598S 0.214457 0.3859 0.112410 0.2008 0.3854 0.8 T 0.458 P -0.957 T 0.001 T 0.001 T CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000118091.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 2_135911422_T->C 2 135911422 135911422 T C snp 4409.77 1/1 99 162 0 162 1.0 exonic rs17261772 RAB3GAP1 AR synonymous SNV NM_012233 exon19 c.T2265C p.F755F 0.786741 1 0.490697 0.5174 0.9984 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000118094.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 2_136379203_T->A 2 136379203 136379203 T A snp 272.8 1/1 21 9 0 9 1.0 intronic rs200880645 R3HDM1 AU NM_001282799 exon4 c.16763+25T>A 0.00678914 0.0107 0.0015 Uncertain 2_136393658_A->G 2 136393658 136393658 A G snp 1059.77 0/1 99 96 48 48 0.5 exonic rs961360 R3HDM1 AU nonsynonymous SNV NM_001282800 exon8 c.A640G p.M214V 0.309305 0.4702 0.183377 0.2402 0.4547 0.038 P -0.894 T 0.932 T 0.949 D Pathogenic 2_136396300_T->C 2 136396300 136396300 T C snp 1910.77 0/1 99 140 63 77 0.55 intronic rs2278731 R3HDM1 AU NM_001282799 exon11 c.33893-8T>C 0.307508 0.4603 0.183608 0.2399 0.4474 Uncertain 2_136407445_A->G 2 136407445 136407445 A G snp 982.77 0/1 99 86 47 39 0.45 intronic rs1446586 R3HDM1 AU NM_001282799 exon14 c.46884-1854A>G 0.307308 0.4603 0.3114 0.4566 Uncertain 2_136407479_A->G 2 136407479 136407479 A G snp 3279.77 1/1 99 126 0 126 1.0 intronic rs1446585 R3HDM1 AU NM_001282799 exon14 c.46884-1820A>G 0.810104 1 0.6723 0.9959 Uncertain 2_136437615_A->G 2 136437615 136437615 A G snp 73.78 0/1 24 4 1 3 0.75 intronic rs3769016 R3HDM1 AU NM_001282799 exon17 c.75327-127A>G 0.305511 0.4583 Uncertain 2_136467119_C->T 2 136467119 136467119 C T snp 2077.77 0/1 99 170 82 88 0.52 intronic rs2304366 R3HDM1 AU NM_001282799 exon18 c.104691+13C>T 0.302716 0.4524 0.177918 0.2382 0.4473 Uncertain 2_136467164_C->A 2 136467164 136467164 C A snp 2723.77 1/1 99 86 0 86 1.0 intronic rs2304367 R3HDM1 AU NM_001282799 exon18 c.104691+58C>A 0.958866 0.9831 Uncertain 2_136527443_-->TGAT 2 136527443 136527443 - TGAT indel 7372.73 1/1 99 121 1 120 0.99 intronic rs113881162 UBXN4 AU NM_014607 exon7 c.27894+50insTGAT 0.361222 0.3909 0.563718 0.5699 0.3805 Uncertain 2_136545844_C->G 2 136545844 136545844 C G snp 1381.77 1/1 99 50 0 50 1.0 UTR3 rs1042712 LCT AR 0.739617 0.7897 0.787867 0.7967 0.8131 Uncertain 2_136546110_A->G 2 136546110 136546110 A G snp 320.78 1/1 27 10 0 10 1.0 exonic rs2278544 LCT AR synonymous SNV NM_002299 exon17 c.T5568C p.A1856A 0.441494 0.4395 0.630478 0.6215 0.4403 Uncertain 2_136548169_A->G 2 136548169 136548169 A G snp 137.03 1/1 12 5 0 5 1.0 intronic rs892716 LCT AR NM_002299 exon3 c.2334-58A>G 0.959265 0.9831 Uncertain 2_136548192_G->A 2 136548192 136548192 G A snp 295.78 1/1 24 10 0 10 1.0 intronic rs1808756 LCT AR NM_002299 exon3 c.2334-35G>A 0.959265 0.9831 0.969091 0.9862 0.9851 Uncertain 2_136555659_T->C 2 136555659 136555659 T C snp 3184.79 1/1 99 127 0 127 1.0 exonic rs2322659 LCT AR nonsynonymous SNV NM_002299 exon13 c.A4916G p.N1639S 0.442692 0.4623 0.617715 0.6058 0.4790 0.23 T 0.0 P -0.969 T 0.013 T 0.031 T Pathogenic 2_136558157_C->T 2 136558157 136558157 C T snp 349.78 1/1 27 10 0 10 1.0 intronic rs748841 LCT AR NM_002299 exon6 c.12283-19C>T 0.372204 0.3978 0.556128 0.5604 0.3933 Uncertain 2_136561557_G->A 2 136561557 136561557 G A snp 2985.77 1/1 99 109 0 109 1.0 exonic rs2304371 LCT AR synonymous SNV NM_002299 exon11 c.C4606T p.L1536L 0.660144 0.7758 0.695602 0.7532 0.7900 Uncertain 2_136565028_C->G 2 136565028 136565028 C G snp 990.77 1/1 72 29 0 29 1.0 intronic rs10928549 LCT AR NM_002299 exon9 c.19073+62C>G 0.979233 1 Uncertain 2_136567633_A->G 2 136567633 136567633 A G snp 54.74 1/1 6 2 0 2 1.0 intronic rs6430591 LCT AR NM_002299 exon10 c.21670+70A>G 0.979233 1 Uncertain 2_136569848_C->A 2 136569848 136569848 C A snp 641.77 1/1 48 20 0 20 1.0 intronic rs12988076 LCT AR NM_002299 exon11 c.23987-32C>A 0.35623 0.3998 0.540231 0.5569 0.3927 Uncertain 2_136575199_G->T 2 136575199 136575199 G T snp 7324.77 1/1 99 249 0 249 1.0 exonic rs6719488 LCT AR synonymous SNV NM_002299 exon6 c.C1419A p.G473G 0.35603 0.3998 0.541135 0.5559 0.3927 Uncertain 2_136575534_T->C 2 136575534 136575534 T C snp 3346.77 1/1 99 125 0 125 1.0 exonic rs4954449 LCT AR nonsynonymous SNV NM_002299 exon6 c.A1084G p.I362V 0.979233 1 0.978395 0.9943 1 1 T 0.000 P -0.954 T 0.0 T 0.0 T Pathogenic 2_136586958_C->A 2 136586958 136586958 C A snp 552.77 1/1 42 15 0 15 1.0 intronic rs10186843 LCT AR NM_002299 exon15 c.41269-204C>A 0.356829 0.3988 Uncertain 2_136590558_C->T 2 136590558 136590558 C T snp 266.77 0/1 99 21 11 10 0.48 intronic rs3754690 LCT AR NM_002299 exon16 c.44787-122C>T 0.236222 0.1944 Uncertain 2_136594158_G->A 2 136594158 136594158 G A snp 1501.77 0/1 99 115 50 65 0.57 exonic rs2236783 LCT AR synonymous SNV NM_002299 exon1 c.C582T p.T194T 0.348442 0.372 0.542288 0.5487 0.3654 Uncertain 2_136610598_A->G 2 136610598 136610598 A G snp 452.77 0/1 99 35 15 20 0.57 intronic rs4988226 MCM6 AR NM_005915 exon6 c.12081+113A>G 0.336462 0.375 Uncertain 2_136614255_G->A 2 136614255 136614255 G A snp 834.77 0/1 99 70 36 34 0.49 intronic rs309180 MCM6 AR NM_005915 exon7 c.15893-42G>A 0.336262 0.375 0.533600 0.5439 0.3665 Uncertain 2_136622825_A->G 2 136622825 136622825 A G snp 3294.77 1/1 99 106 0 106 1.0 intronic rs309177 MCM6 AR NM_005915 exon11 c.24329+92A>G 0.979233 1 Uncertain 2_136633771_T->C 2 136633771 136633771 T C snp 343.77 0/1 99 23 9 14 0.61 intronic rs191079 MCM6 AR NM_005915 exon17 c.35424-57T>C 0.675319 0.624 Uncertain 2_136740900_T->C 2 136740900 136740900 T C snp 801.77 0/1 99 64 29 35 0.55 intronic rs687670 DARS AR NM_001349 exon15 c.76081-66T>C 0.676917 0.628 0.465070 Uncertain 2_137639616_C->T 2 137639616 137639616 C T snp 907.77 1/1 69 25 0 25 1.0 intergenic rs1465612 CXCR4 AU,AD 0.988618 1 Uncertain 2_137640007_T->- 2 137640007 137640007 T - indel 434.73 1/1 42 18 0 18 1.0 intergenic rs10716943 CXCR4 AU,AD 0.808706 0.7966 Uncertain 2_137852698_C->T 2 137852698 137852698 C T snp 960.77 0/1 99 81 41 40 0.49 intronic rs7561482 THSD7B AU NM_001080427 exon3 c.104230+7C>T 0.328075 0.3958 0.249140 0.1981 0.3990 Uncertain 2_137988626_C->T 2 137988626 137988626 C T snp 689.77 0/1 99 41 14 27 0.66 exonic rs79443131 THSD7B AU unknown 0.0301518 0.0853 0.003175 0.0189 0.0711 0.25 T 1 D -1.164 T 0.286 T 0.131 T Uncertain 2_137999979_G->C 2 137999979 137999979 G C snp 733.77 0/1 99 56 25 31 0.55 intronic rs10490735 THSD7B AU NM_001080427 exon9 c.251565-47G>C 0.272963 0.4663 0.242169 0.2728 0.4894 Uncertain 2_138000226_T->C 2 138000226 138000226 T C snp 763.77 0/1 99 42 14 28 0.67 intronic rs7605259 THSD7B AU NM_001080427 exon9 c.251681+84T>C 0.942692 0.9147 Uncertain 2_138030271_G->A 2 138030271 138030271 G A snp 1612.77 1/1 99 50 0 50 1.0 intronic rs10182152 THSD7B AU NM_001080427 exon10 c.281771+39G>A 0.717053 0.9583 0.580175 0.6237 0.9508 Uncertain 2_138033412_T->A 2 138033412 138033412 T A snp 782.77 1/1 57 25 0 25 1.0 intronic rs72617060 THSD7B AU NM_001080427 exon11 c.285031-80T>A 0.165535 0.4335 Uncertain 2_138033428_G->A 2 138033428 138033428 G A snp 1121.77 1/1 81 38 0 38 1.0 intronic rs67227746 THSD7B AU NM_001080427 exon11 c.285031-64G>A 0.226837 0.4821 Uncertain 2_138163391_T->C 2 138163391 138163391 T C snp 1343.77 1/1 99 41 0 41 1.0 intronic rs1551281 THSD7B AU NM_001080427 exon12 c.414916+14T>C 0.879792 0.9762 0.873838 0.9360 0.9703 Uncertain 2_138169158_T->C 2 138169158 138169158 T C snp 1861.77 1/1 99 68 0 68 1.0 intronic rs1463285 THSD7B AU NM_001080427 exon13 c.420717-20T>C 0.979832 0.997 0.986313 0.9947 0.9970 Uncertain 2_138208631_G->T 2 138208631 138208631 G T snp 918.77 1/1 69 24 0 24 1.0 intronic rs1453302 THSD7B AU NM_001080427 exon14 c.460134+36G>T 0.715256 0.8601 0.685649 0.7063 0.8729 Uncertain 2_138237038_C->T 2 138237038 138237038 C T snp 287.77 0/1 99 37 23 14 0.38 intronic rs1584435 THSD7B AU NM_001080427 exon14 c.460134+28443C>T 0.615216 0.7619 0.7033 0.7933 Uncertain 2_138420996_A->G 2 138420996 138420996 A G snp 2292.77 1/1 99 86 0 86 1.0 exonic rs10206850 THSD7B AU unknown 0.58726 0.5536 0.602909 0.6256 0.6025 0.95 T 1.0 P -0.963 T 0.0 T 0.0 T Uncertain 2_138727607_G->A 2 138727607 138727607 G A snp 43.77 0/1 66 4 2 2 0.5 intronic rs3100702 HNMT AR,AD NM_001024075 exon2 c.5673-127G>A 0.385184 0.3433 Uncertain 2_139045445_T->A 2 139045445 139045445 T A snp 96.28 1/1 9 3 0 3 1.0 intergenic rs11900035 HNMT AR,AD 0.685703 0.7877 Uncertain 2_139045852_A->G 2 139045852 139045852 A G snp 2753.77 0/1 99 219 108 111 0.51 intergenic rs35211371 HNMT AR,AD 0.0854633 0.1687 Uncertain 2_139045855_C->T 2 139045855 139045855 C T snp 2534.77 0/1 99 213 108 105 0.49 intergenic rs35998722 HNMT AR,AD 0.246805 0.4851 Uncertain 2_139045929_C->T 2 139045929 139045929 C T snp 2855.77 0/1 99 219 111 108 0.49 intergenic rs13033464 HNMT AR,AD 0.140775 0.4851 Uncertain 2_139045972_T->C 2 139045972 139045972 T C snp 7094.77 1/1 99 238 0 238 1.0 intergenic rs6733578 HNMT AR,AD 0.796326 0.9335 Uncertain 2_139045987_C->T 2 139045987 139045987 C T snp 3150.77 0/1 99 240 115 125 0.52 intergenic rs13033503 HNMT AR,AD 0.246805 0.4851 Uncertain 2_139046301_A->G 2 139046301 139046301 A G snp 7128.77 1/1 99 250 1 249 1.0 intergenic rs12691943 HNMT AR,AD 0.796126 0.9335 Uncertain 2_139046385_G->A 2 139046385 139046385 G A snp 4459.77 1/1 99 143 0 143 1.0 intergenic rs13382964 HNMT AR,AD 0.796326 0.9335 Uncertain 2_139308398_TC->- 2 139308398 139308399 TC - indel 217.73 0/1 75 14 7 7 0.5 intronic rs149244535 SPOPL AU NM_001001664 exon4 c.686-74_686-73delTC Uncertain 2_139429068_G->A 2 139429068 139429068 G A snp 3209.76 0/1 99 250 127 123 0.49 exonic rs10803570 NXPH2 AU synonymous SNV NM_007226 exon2 c.C219T p.Y73Y 0.658546 0.4474 0.752155 0.6719 0.4586 Uncertain 2_140992337_C->A 2 140992337 140992337 C A snp 1794.77 0/1 99 155 77 78 0.5 intronic rs13387241 LRP1B AU NM_018557 exon2 c.1600-17C>A 0.467452 0.5069 0.530298 0.5495 0.5209 Uncertain 2_141004513_C->T 2 141004513 141004513 C T snp 111.77 0/1 99 9 5 4 0.44 intronic rs11895946 LRP1B AU NM_018557 exon5 c.13900-141C>T 0.453874 0.5258 Uncertain 2_141004529_A->G 2 141004529 141004529 A G snp 628.77 1/1 48 19 0 19 1.0 intronic rs2129483 LRP1B AU NM_018557 exon5 c.13900-125A>G 0.889976 0.9673 Uncertain 2_141027926_A->G 2 141027926 141027926 A G snp 2024.77 0/1 99 191 98 93 0.49 intronic rs3748865 LRP1B AU NM_018557 exon6 c.37161+11A>G 0.167732 0.3085 0.129632 0.1767 0.3305 Uncertain 2_141032088_C->T 2 141032088 141032088 C T snp 4852.77 1/1 99 181 0 181 1.0 exonic rs1386356 LRP1B AU synonymous SNV NM_018557 exon85 c.G13047A p.T4349T 0.486222 0.6508 0.531985 0.6037 0.6858 1.000 P -0.958 T Likely benign 2_141113924_G->T 2 141113924 141113924 G T snp 762.77 0/1 99 73 35 38 0.52 exonic rs185628679 LRP1B AU nonsynonymous SNV NM_018557 exon75 c.C11517A p.N3839K 0.00199681 0.0099 0.000077 0.0008 0.0118 0.78 T 1.000 N -1.040 T 0.181 T 0.031 T ID=COSM1236068;OCCURENCE=2(haematopoietic_and_lymphoid_tissue) Pathogenic 2_141113930_C->T 2 141113930 141113930 C T snp 869.77 0/1 99 72 35 37 0.51 exonic rs190269691 LRP1B AU nonsynonymous SNV NM_018557 exon75 c.G11511A p.M3837I 0.00199681 0.0099 0.000077 0.0008 0.0118 0.19 T 0.943 N -1.081 T 0.0 T 0.0 T ID=COSM1236069;OCCURENCE=2(haematopoietic_and_lymphoid_tissue) Pathogenic 2_141260668_A->G 2 141260668 141260668 A G snp 6478.77 1/1 99 228 1 227 1.0 exonic rs4444457 LRP1B AU synonymous SNV NM_018557 exon54 c.T8526C p.Y2842Y 0.543131 0.7222 0.532754 0.5490 0.7514 Uncertain 2_141267744_T->C 2 141267744 141267744 T C snp 379.77 1/1 30 10 0 10 1.0 intronic rs1948051 LRP1B AU NM_018557 exon40 c.276871+119T>C 0.987819 1 Uncertain 2_141272360_-->A 2 141272360 141272360 - A indel 306.73 0/1 99 54 20 34 0.63 intronic rs201317136 LRP1B AU NM_018557 exon41 c.281587+19insA 0.0368 0.1374 Uncertain 2_141283603_T->G 2 141283603 141283603 T G snp 2416.77 1/1 99 75 0 75 1.0 intronic rs1352047 LRP1B AU NM_018557 exon43 c.292808+41T>G 0.982228 1 0.981929 0.9952 1 Uncertain 2_141284041_A->G 2 141284041 141284041 A G snp 399.77 1/1 30 13 0 13 1.0 intronic rs7562323 LRP1B AU NM_018557 exon44 c.293165+122A>G 0.918131 0.9077 Uncertain 2_141291841_T->A 2 141291841 141291841 T A snp 44.74 1/1 6 2 0 2 1.0 intronic rs10928755 LRP1B AU NM_018557 exon45 c.300955+132T>A 0.516374 0.6151 Uncertain 2_141298467_A->C 2 141298467 141298467 A C snp 2116.77 1/1 99 61 0 61 1.0 intronic rs6729619 LRP1B AU NM_018557 exon47 c.307787-74A>C 0.484824 0.5843 Uncertain 2_141298674_T->C 2 141298674 141298674 T C snp 2405.77 0/1 99 183 87 96 0.52 intronic rs13013854 LRP1B AU NM_018557 exon47 c.307913+7T>C 0.329473 0.3542 0.348993 0.3911 0.3456 Uncertain 2_141298682_G->C 2 141298682 141298682 G C snp 4863.77 1/1 99 163 0 163 1.0 intronic rs11694934 LRP1B AU NM_018557 exon47 c.307913+15G>C 0.504792 0.5853 0.495233 0.5084 0.5814 Uncertain 2_141298749_G->C 2 141298749 141298749 G C snp 1559.77 1/1 99 44 0 44 1.0 intronic rs11694970 LRP1B AU NM_018557 exon47 c.307913+82G>C 0.463458 0.5843 Uncertain 2_141299317_A->G 2 141299317 141299317 A G snp 2697.77 1/1 99 90 0 90 1.0 intronic rs9287535 LRP1B AU NM_018557 exon48 c.308593-30A>G 0.518371 0.6151 0.496539 0.5180 0.6231 Uncertain 2_141473410_A->- 2 141473410 141473410 A - indel 189.87 1/1 15 5 0 5 1.0 intronic rs10716305 LRP1B AU NM_018557 exon55 c.482787-131delA 0.376198 0.375 Uncertain 2_141473505_A->T 2 141473505 141473505 A T snp 1517.77 1/1 99 53 0 53 1.0 intronic rs4954852 LRP1B AU NM_018557 exon55 c.482787-36A>T 0.419728 0.377 0.515844 0.5058 0.3892 Uncertain 2_141473786_C->T 2 141473786 141473786 C T snp 96.28 1/1 9 3 0 3 1.0 intronic rs17513410 LRP1B AU NM_018557 exon55 c.482917+115C>T 0.397364 0.377 Uncertain 2_141474402_-->A 2 141474402 141474402 - A indel 2663.73 1/1 99 111 0 111 1.0 intronic rs398104769 LRP1B AU NM_018557 exon56 c.483631+17insA 0.46246 0.377 0.563189 0.5608 0.3855 Uncertain 2_141474456_C->T 2 141474456 141474456 C T snp 1236.77 1/1 90 30 0 30 1.0 intronic rs1372255 LRP1B AU NM_018557 exon56 c.483631+71C>T 0.398562 0.377 Uncertain 2_141527013_A->G 2 141527013 141527013 A G snp 494.77 1/1 39 13 0 13 1.0 intronic rs13002947 LRP1B AU NM_018557 exon57 c.536159+100A>G 0.773962 0.9871 Uncertain 2_141528592_T->C 2 141528592 141528592 T C snp 1633.77 1/1 99 60 0 60 1.0 intronic rs7599219 LRP1B AU NM_018557 exon58 c.537821+17T>C 0.838382 0.8727 0.9994 Uncertain 2_141533662_T->C 2 141533662 141533662 T C snp 1548.77 1/1 99 57 0 57 1.0 splicing rs996361 LRP1B AU NM_018557 exon59 c.542912-4T>C 0.855232 0.999 0.838382 0.8732 0.9994 Pathogenic 2_141571329_T->C 2 141571329 141571329 T C snp 2983.77 1/1 99 114 0 114 1.0 exonic rs3749010 LRP1B AU synonymous SNV NM_018557 exon32 c.A5256G p.S1752S 0.845248 0.9871 0.836998 0.8708 0.9888 Uncertain 2_141571440_C->G 2 141571440 141571440 C G snp 703.77 1/1 54 24 0 24 1.0 intronic rs17575847 LRP1B AU NM_018557 exon60 c.580621+65C>G 0.431709 0.6577 Uncertain 2_141571456_-->A 2 141571456 141571456 - A indel 477.73 1/1 48 20 0 20 1.0 intronic rs397970346 LRP1B AU NM_018557 exon60 c.580621+81insA 0.449081 0.6577 Uncertain 2_141571480_A->G 2 141571480 141571480 A G snp 229.84 1/1 18 8 0 8 1.0 intronic rs17575875 LRP1B AU NM_018557 exon60 c.580621+105A>G 0.43151 0.6577 Uncertain 2_141598473_-->T 2 141598473 141598473 - T indel 4783.73 1/1 99 109 0 109 1.0 intronic rs35745624 LRP1B AU NM_018557 exon62 c.607732-13insT 0.977636 0.999 0.978198 0.9923 0.9988 Uncertain 2_141625854_G->A 2 141625854 141625854 G A snp 38.77 0/1 67 11 6 5 0.45 intronic LRP1B AU NM_018557 exon66 c.635078+22G>A Uncertain 2_141709419_T->G 2 141709419 141709419 T G snp 4325.77 1/1 99 162 0 162 1.0 intronic rs1429348 LRP1B AU NM_018557 exon73 c.718674-9T>G 0.536542 0.6587 0.568122 0.6465 0.6828 Uncertain 2_141762830_C->T 2 141762830 141762830 C T snp 1111.77 1/1 81 33 0 33 1.0 intronic rs13413663 LRP1B AU NM_018557 exon77 c.772149-73C>T 0.470647 0.3829 Uncertain 2_141771058_T->A 2 141771058 141771058 T A snp 460.77 1/1 36 12 0 12 1.0 intronic rs3791766 LRP1B AU NM_018557 exon78 c.780370-66T>A 0.402356 0.3829 Uncertain 2_141777763_G->T 2 141777763 141777763 G T snp 222.84 1/1 18 6 0 6 1.0 intronic rs12615322 LRP1B AU NM_018557 exon80 c.786917+92G>T 0.466653 0.381 Uncertain 2_141816621_A->G 2 141816621 141816621 A G snp 615.77 1/1 45 22 1 21 0.95 exonic rs1525579 LRP1B AU synonymous SNV NM_018557 exon9 c.T1239C p.V413V 0.945288 1 0.940484 0.9843 1 Uncertain 2_141945949_C->T 2 141945949 141945949 C T snp 1862.77 1/1 99 58 0 58 1.0 intronic rs1249434 LRP1B AU NM_018557 exon85 c.955235-40C>T 0.997005 1 0.998153 0.9996 1 Uncertain 2_141987087_G->A 2 141987087 141987087 G A snp 80.77 0/1 99 6 3 3 0.5 intronic rs79330716 LRP1B AU NM_018557 exon86 c.996255+78G>A 0.0822684 0.1538 Uncertain 2_142012027_G->T 2 142012027 142012027 G T snp 500.77 0/1 99 37 17 20 0.54 intronic rs431809 LRP1B AU NM_018557 exon88 c.1021336-63G>T 0.213858 0.1885 Uncertain 2_142012036_T->G 2 142012036 142012036 T G snp 412.77 0/1 99 42 23 19 0.45 intronic rs9973397 LRP1B AU NM_018557 exon88 c.1021336-54T>G 0.309305 0.5655 Uncertain 2_142012218_-->A 2 142012218 142012218 - A indel 596.73 0/1 99 44 16 28 0.64 intronic rs138919288 LRP1B AU NM_018557 exon88 c.1021456+8insA 0.00419329 0.0208 0.0019 0.0249 Uncertain 2_142012301_T->C 2 142012301 142012301 T C snp 68.77 0/1 97 9 6 3 0.33 intronic rs373757 LRP1B AU NM_018557 exon88 c.1021456+91T>C 0.214657 0.1885 Uncertain 2_142356618_CCCCG->- 2 142356618 142356622 CCCCG - indel 1585.73 0/1 99 52 20 32 0.62 intronic rs368401183 LRP1B AU NM_018557 exon89 c.1247348+118516_1247348+118520delCCCCG Uncertain 2_142356630_C->T 2 142356630 142356630 C T snp 783.77 0/1 99 64 30 34 0.53 intronic rs147283574 LRP1B AU NM_018557 exon89 c.1247348+118528C>T Uncertain 2_142356635_C->G 2 142356635 142356635 C G snp 976.77 0/1 99 70 27 43 0.61 intronic rs144533069 LRP1B AU NM_018557 exon89 c.1247348+118533C>G Uncertain 2_142567737_G->A 2 142567737 142567737 G A snp 289.77 0/1 99 29 17 12 0.41 intronic rs4996425 LRP1B AU NM_018557 exon90 c.1577093-110G>A 0.596845 0.5298 Uncertain 2_142567738_G->T 2 142567738 142567738 G T snp 378.77 0/1 99 30 13 17 0.57 intronic rs28529494 LRP1B AU NM_018557 exon90 c.1577093-109G>T 0.366813 0.4732 Uncertain 2_142567910_T->C 2 142567910 142567910 T C snp 1051.77 0/1 99 88 42 46 0.52 exonic rs12990449 LRP1B AU nonsynonymous SNV NM_018557 exon2 c.A143G p.Q48R 0.217452 0.3532 0.175227 0.2338 0.4024 0.54 T 0.203 P -1.072 T 0.001 T 0.005 T Pathogenic 2_143704701_A->C 2 143704701 143704701 A C snp 2577.77 0/1 99 228 117 111 0.49 intronic rs351695 KYNU AR NM_001199241 exon6 c.69442-7677A>C 0.0463259 0.0298 0.0102 0.0304 0 D 0.0 P -0.992 T Uncertain 2_143713700_T->A 2 143713700 143713700 T A snp 726.77 1/1 54 25 0 25 1.0 intronic rs351674 KYNU AR NM_001199241 exon7 c.70835-71T>A 0.632987 0.5774 Uncertain 2_143715458_C->T 2 143715458 143715458 C T snp 46.79 0/1 23 3 1 2 0.67 intronic rs351681 KYNU AR NM_001199241 exon8 c.72348+174C>T 0.10623 0.0298 Uncertain 2_143718459_-->AAAA 2 143718459 143718459 - AAAA indel 651.73 1/1 45 32 0 32 1.0 intronic rs3069632 KYNU AR NM_001199241 exon9 c.75403+120insAAAA 0.424521 0.4425 Uncertain 2_143787161_C->A 2 143787161 143787161 C A snp 406.77 0/1 99 37 19 18 0.49 intronic rs6429999 KYNU AR NM_001199241 exon12 c.144259-34C>A 0.589058 0.494 0.596799 0.6612 0.4706 Uncertain 2_143787274_C->T 2 143787274 143787274 C T snp 234.77 0/1 99 35 21 14 0.4 intronic rs6430000 KYNU AR NM_001199241 exon12 c.144312+26C>T 0.976038 0.9663 0.991541 0.9884 0.9625 Uncertain 2_143913004_T->G 2 143913004 143913004 T G snp 1111.77 1/1 81 35 0 35 1.0 intronic rs2580857 ARHGAP15 AU 0.979034 1 Uncertain 2_143959863_C->T 2 143959863 143959863 C T snp 319.77 0/1 99 37 23 14 0.38 intronic rs62171700 ARHGAP15 AU NM_018460 exon3 c.46712+92C>T 0.185503 0.126 Uncertain 2_143959892_C->T 2 143959892 143959892 C T snp 245.77 0/1 99 34 24 10 0.29 intronic rs34183792 ARHGAP15 AU NM_018460 exon3 c.46712+121C>T 0.185503 0.126 Uncertain 2_143973860_G->A 2 143973860 143973860 G A snp 227.84 1/1 18 8 0 8 1.0 intronic rs1451805 ARHGAP15 AU NM_018460 exon4 c.60893-92G>A 0.85623 0.9405 Uncertain 2_143986002_T->C 2 143986002 143986002 T C snp 114.77 0/1 99 17 10 7 0.41 intronic rs12691671 ARHGAP15 AU NM_018460 exon5 c.73090-147T>C 0.409545 0.4534 Uncertain 2_144007986_T->C 2 144007986 144007986 T C snp 1146.77 0/1 99 69 27 42 0.61 intronic rs6430017 ARHGAP15 AU NM_018460 exon6 c.95020-93T>C 0.185304 0.123 Uncertain 2_144193151_-->TT 2 144193151 144193151 - TT indel 197.75 1/1 24 12 0 12 1.0 intronic rs11438710 ARHGAP15 AU NM_018460 exon7 c.280110-18insTT 0.2137 0.2538 Uncertain 2_144193293_C->T 2 144193293 144193293 C T snp 1057.77 0/1 99 86 36 50 0.58 intronic rs12621011 ARHGAP15 AU NM_018460 exon7 c.280209+25C>T 0.115615 0.2103 0.014538 0.0958 0.2112 Uncertain 2_144244913_A->- 2 144244913 144244913 A - indel 956.73 0/1 99 48 19 29 0.6 intronic rs3839037 ARHGAP15 AU NM_018460 exon9 c.331882-28delA 0.1248 0.2222 0.043457 0.0755 0.2093 Uncertain 2_144728478_T->C 2 144728478 144728478 T C snp 268.77 0/1 99 21 9 12 0.57 intronic rs72852918 GTDC1 AU NM_001164629 exon5 c.23711+149T>C 0.0946486 0.1637 Uncertain 2_144764667_A->G 2 144764667 144764667 A G snp 454.77 0/1 99 39 23 16 0.41 UTR3 rs1469474 GTDC1 AU 0.160743 0.255 Uncertain 2_144899559_C->A 2 144899559 144899559 C A snp 2995.77 1/1 99 108 0 108 1.0 exonic rs3731958 GTDC1 AU nonsynonymous SNV NM_001284233 exon4 c.G411T p.M137I 0.683706 0.8413 0.570209 0.5781 0.8373 1 T 0.000 P -0.943 T 0.0 T 0.001 T Pathogenic 2_144934655_-->G 2 144934655 144934655 - G indel 365.73 1/1 33 11 0 11 1.0 intronic rs397706907 GTDC1 AU NM_001284238 exon9 c.230083-46insG 0.9998 1 0.9999 1 Uncertain 2_144934819_-->A 2 144934819 144934819 - A indel 256.52 1/1 7 28 2 26 0.93 intronic rs5834993 GTDC1 AU NM_001284238 exon9 c.230189+12insA 0.606829 0.7431 0.4261 0.5066 Uncertain 2_145155731_T->C 2 145155731 145155731 T C snp 53.74 1/1 6 3 0 3 1.0 intronic rs10185359 ZEB2 AD NM_001171653 exon3 c.8850-136T>C 0.676518 0.8264 Uncertain 2_145271250_C->T 2 145271250 145271250 C T snp 247.77 0/1 99 32 20 12 0.38 intronic rs116497883 ZEB2 AD NM_001171653 exon8 c.127827-3594C>T 0.0433307 0.0278 0.0551 0.0376 Uncertain 2_148657117_G->A 2 148657117 148657117 G A snp 4686.77 1/1 99 170 0 170 1.0 exonic rs1128919 ACVR2A AU synonymous SNV NM_001278580 exon3 c.G30A p.P10P 0.352636 0.4673 0.313644 0.3493 0.5246 Uncertain 2_148674797_G->C 2 148674797 148674797 G C snp 831.77 1/1 63 23 0 23 1.0 intronic rs3764955 ACVR2A AU NM_001616 exon6 c.72130-54G>C 0.273762 0.4246 Uncertain 2_148680427_G->C 2 148680427 148680427 G C snp 518.77 1/1 39 13 0 13 1.0 intronic rs2303392 ACVR2A AU NM_001616 exon9 c.77820-114G>C 0.360823 0.4831 Uncertain 2_148701100_A->- 2 148701100 148701100 A - indel 227.74 0/1 44 35 7 28 0.8 intronic rs397986184 ORC4 AR NM_001190881 exon5 c.8013+9delA 0.503594 0.5129 0.4758 0.4830 Uncertain 2_148716099_G->T 2 148716099 148716099 G T snp 99.28 1/1 9 3 0 3 1.0 intronic rs12463798 ORC4 AR NM_001190881 exon9 c.22874+147G>T 0.360823 0.4851 Uncertain 2_148716428_T->C 2 148716428 148716428 T C snp 1299.77 1/1 93 42 0 42 1.0 exonic rs2307394 ORC4 AR nonsynonymous SNV NM_002552 exon5 c.A233G p.N78S 0.355831 0.4762 0.311448 0.3865 0.5531 0.46 T 1.000 P -0.953 T 0.082 T 0.033 T CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000146999.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 2_148733548_-->A 2 148733548 148733548 - A indel 1420.73 1/1 99 54 0 54 1.0 splicing rs2307399 ORC4 AR NM_001190879 exon13 c.40466+4insA 0.646166 0.5942 0.661948 0.5941 0.6389 Pathogenic 2_149240658_T->- 2 149240658 149240658 T - indel 771.73 0/1 99 68 24 44 0.65 intronic rs397823643 MBD5 AD NM_018328 exon10 c.24351-20delT 0.000599042 0.5650 0.5674 Uncertain 2_149243260_G->A 2 149243260 149243260 G A snp 483.77 1/1 36 15 0 15 1.0 intronic rs2121344 MBD5 AD NM_018328 exon11 c.26983-50G>A 0.599641 0.7222 0.563030 0.6501 0.7430 Uncertain 2_149270710_A->G 2 149270710 149270710 A G snp 93.28 1/1 9 3 0 3 1.0 UTR3 rs16828708 MBD5 AD 0.449081 0.7956 Uncertain 2_149520186_T->C 2 149520186 149520186 T C snp 74.77 0/1 99 10 7 3 0.3 intronic rs12622667 EPC2 AU NM_015630 exon6 c.117652-52T>C 0.104633 0.2946 Uncertain 2_149520214_C->A 2 149520214 149520214 C A snp 392.77 0/1 99 29 16 13 0.45 intronic rs10193313 EPC2 AU NM_015630 exon6 c.117652-24C>A 0.52476 0.3998 0.692380 0.7059 0.4672 Uncertain 2_149529083_T->C 2 149529083 149529083 T C snp 128.03 1/1 12 4 0 4 1.0 intronic rs4972266 EPC2 AU NM_015630 exon10 c.126370+127T>C 0.954273 1 Uncertain 2_149529095_A->G 2 149529095 149529095 A G snp 39.77 0/1 68 4 2 2 0.5 intronic rs13022974 EPC2 AU NM_015630 exon10 c.126370+139A>G 0.237021 0.4742 Uncertain 2_149539054_G->A 2 149539054 149539054 G A snp 54.74 1/1 6 2 0 2 1.0 intronic rs2289995 EPC2 AU NM_015630 exon11 c.136626-158G>A 0.299121 0.5 Uncertain 2_149542115_G->A 2 149542115 149542115 G A snp 35.77 0/1 64 4 2 2 0.5 intronic EPC2 AU NM_015630 exon13 c.139650-121G>A Uncertain 2_149679958_A->T 2 149679958 149679958 A T snp 243.77 0/1 99 16 8 8 0.5 intronic rs4346318 KIF5C AD NM_004522 exon2 c.46610+162A>T 0.750998 0.9663 Uncertain 2_149798213_G->A 2 149798213 149798213 G A snp 1173.77 0/1 99 93 43 50 0.54 intronic KIF5C AD NM_004522 exon5 c.164986+41G>A 0.148762 0.0347 0.142297 0.1290 0.0502 Uncertain 2_149799027_A->G 2 149799027 149799027 A G snp 711.77 0/1 99 39 16 23 0.59 intronic KIF5C AD NM_004522 exon7 c.166000-159A>G 0.0113818 0.0188 Uncertain 2_149799216_T->C 2 149799216 149799216 T C snp 2164.77 0/1 99 191 93 98 0.51 exonic KIF5C AD synonymous SNV NM_004522 exon7 c.T531C p.P177P 0.14976 0.0347 0.153645 0.1239 0.0443 Uncertain 2_149803357_A->T 2 149803357 149803357 A T snp 489.77 0/1 99 51 28 23 0.45 intronic KIF5C AD NM_004522 exon8 c.170226-55A>T 0.149361 0.0347 Uncertain 2_149835264_G->A 2 149835264 149835264 G A snp 287.77 0/1 99 20 10 10 0.5 intronic KIF5C AD NM_004522 exon13 c.202249-171G>A 0.195487 0.0526 Uncertain 2_149850790_G->A 2 149850790 149850790 G A snp 215.77 0/1 99 12 5 7 0.58 intronic KIF5C AD NM_004522 exon17 c.217748-144G>A 0.0111821 0.0188 Uncertain 2_149853960_A->G 2 149853960 149853960 A G snp 1842.77 1/1 99 66 0 66 1.0 intronic KIF5C AD NM_004522 exon18 c.220668+106A>G 0.631589 0.3056 0.6731 0.3632 Uncertain 2_149864403_T->C 2 149864403 149864403 T C snp 102.28 1/1 9 5 0 5 1.0 intronic KIF5C AD NM_004522 exon23 c.231290-73T>C 0.0109824 0.0198 Uncertain 2_149864414_T->C 2 149864414 149864414 T C snp 88.77 0/1 69 8 2 6 0.75 intronic KIF5C AD NM_004522 exon23 c.231290-62T>C 0.0107827 0.0188 Uncertain 2_149864699_A->G 2 149864699 149864699 A G snp 64.77 0/1 93 13 9 4 0.31 intronic KIF5C AD NM_004522 exon23 c.231395+118A>G 0.0277556 0.0188 Uncertain 2_149866627_T->C 2 149866627 149866627 T C snp 1240.77 0/1 99 100 47 53 0.53 intronic KIF5C AD NM_004522 exon24 c.233462-21T>C 0.0591054 0.0208 0.040436 0.0548 0.0327 Uncertain 2_149866880_A->C 2 149866880 149866880 A C snp 610.77 0/1 99 38 15 23 0.61 intronic KIF5C AD NM_004522 exon24 c.233679+15A>C 0.0567093 0.0208 0.044090 0.0406 0.0318 Uncertain 2_149868236_C->T 2 149868236 149868236 C T snp 565.77 0/1 99 40 16 24 0.6 intronic KIF5C AD NM_004522 exon25 c.235011+39C>T 0.0567093 0.0208 0.045009 0.0217 0.0234 Uncertain 2_150016809_T->C 2 150016809 150016809 T C snp 141.03 1/1 12 4 0 4 1.0 intronic rs16826652 LYPD6B AU NM_177964 exon3 c.29815-468T>C 0.341853 0.5556 Uncertain 2_150320628_A->- 2 150320628 150320628 A - indel 295.92 1/1 5 18 2 16 0.89 intronic rs34341723 LYPD6 AU NM_194317 exon4 c.30936-4530delA 0.473642 0.5843 Uncertain 2_150427516_C->T 2 150427516 150427516 C T snp 441.77 1/1 33 13 0 13 1.0 intronic rs4500908 MMADHC AR NM_015702 exon2 c.1111-82C>T 0.621805 0.8651 Uncertain 2_150432377_C->G 2 150432377 150432377 C G snp 583.77 1/1 45 20 0 20 1.0 intronic rs12232959 MMADHC AR NM_015702 exon3 c.5868+22C>G 0.621605 0.8651 0.622582 0.7540 0.8598 Uncertain 2_150432469_G->T 2 150432469 150432469 G T snp 101.28 1/1 9 4 0 4 1.0 intronic rs10932467 MMADHC AR NM_015702 exon3 c.5868+114G>T 0.63139 0.8651 Uncertain 2_150432976_C->T 2 150432976 150432976 C T snp 2427.77 1/1 99 91 1 90 0.99 exonic rs11545261 MMADHC AR synonymous SNV NM_015702 exon5 c.G453A p.Q151Q 0.759585 0.876 0.773950 0.8681 0.8611 Uncertain 2_150433128_C->G 2 150433128 150433128 C G snp 1214.77 1/1 87 40 0 40 1.0 intronic rs11680630 MMADHC AR NM_015702 exon4 c.6569+72C>G 0.63139 0.8651 Uncertain 2_150443689_C->G 2 150443689 150443689 C G snp 5901.77 1/1 99 218 0 218 1.0 intronic rs4667420 MMADHC AR NM_015702 exon7 c.17176+26C>G 0.688498 0.876 0.736750 Uncertain 2_150443813_C->T 2 150443813 150443813 C T snp 1374.77 1/1 99 48 0 48 1.0 intronic rs4667419 MMADHC AR NM_015702 exon7 c.17176+150C>T 0.678514 0.876 Uncertain 2_151328285_A->- 2 151328285 151328285 A - indel 1848.73 1/1 99 91 1 90 0.99 intronic rs11338446 RND3 AU NM_001254738 exon2 c.1775+10delA 0.8162 0.8340 Uncertain 2_151343988_A->T 2 151343988 151343988 A T snp 88.28 1/1 9 4 0 4 1.0 UTR5 rs2334309 RND3 AU 0.296326 0.4722 Uncertain 2_151900223_T->C 2 151900223 151900223 T C snp 7550.77 1/1 99 250 0 250 1.0 intergenic rs7589036 LOC101929282 AU 0.925519 0.9911 Uncertain 2_152108261_T->G 2 152108261 152108261 T G snp 344.77 0/1 99 28 14 14 0.5 intronic rs4665119 RBM43 AU NM_198557 exon1 c.759+83T>G 0.759585 0.9048 Uncertain 2_152109159_C->T 2 152109159 152109159 C T snp 455.77 0/1 99 29 11 18 0.62 intronic rs289885 RBM43 AU NM_198557 exon2 c.1849-109C>T 0.977037 0.9375 Uncertain 2_152117780_T->C 2 152117780 152117780 T C snp 1774.77 0/1 99 160 86 74 0.46 intronic rs2271811 RBM43 AU NM_198557 exon4 c.10819-458T>C 0.33726 0.3849 0.3742 0.3745 Uncertain 2_152118271_G->A 2 152118271 152118271 G A snp 1207.77 0/1 99 154 92 62 0.4 UTR5 rs55775354 RBM43 AU 0.306709 0.3849 0.327847 0.4390 0.4233 Uncertain 2_152118275_A->G 2 152118275 152118275 A G snp 1184.77 0/1 99 152 95 57 0.38 UTR5 rs56376752 RBM43 AU 0.33766 0.3839 0.356216 0.4472 0.4204 Uncertain 2_152118338_-->T 2 152118338 152118338 - T indel 3737.73 1/1 99 117 0 117 1.0 UTR5 rs35240993 RBM43 AU 0.677915 0.5714 0.678501 Uncertain 2_152118479_G->A 2 152118479 152118479 G A snp 68.77 0/1 97 13 10 3 0.23 upstream rs16829823 RBM43 AU 0.0367412 0.0556 Uncertain 2_152135270_C->T 2 152135270 152135270 C T snp 334.77 0/1 99 20 10 10 0.5 intronic rs117019253 NMI AU NM_004688 exon5 c.8135-71C>T 0.0173722 0.0575 0.0151 0.1088 Uncertain 2_152135514_A->G 2 152135514 152135514 A G snp 566.77 0/1 99 44 20 24 0.55 intronic rs289831 NMI AU NM_004688 exon5 c.8298+10A>G 0.209864 0.1091 0.202401 0.1614 0.1448 Uncertain 2_152138522_T->C 2 152138522 152138522 T C snp 708.77 0/1 99 46 16 30 0.65 exonic rs3771886 NMI AU synonymous SNV NM_004688 exon3 c.A117G p.Q39Q 0.555711 0.4365 0.596953 0.5682 0.4519 Uncertain 2_152139271_C->T 2 152139271 152139271 C T snp 60.77 0/1 89 10 7 3 0.3 intronic rs10169816 NMI AU NM_004688 exon7 c.12175-110C>T 0.555711 0.4355 Uncertain 2_152139416_G->A 2 152139416 152139416 G A snp 445.77 0/1 99 26 7 19 0.73 exonic rs1048135 NMI AU nonsynonymous SNV NM_004688 exon2 c.C47T p.S16L 0.3127 0.3839 0.332407 0.4166 0.3797 0.37 T 0.0 P -0.995 T 0.0 T 0.001 T Pathogenic 2_152139493_A->G 2 152139493 152139493 A G snp 289.77 0/1 54 15 2 13 0.87 intronic rs10182245 NMI AU NM_004688 exon7 c.12262+25A>G 0.561102 0.4355 0.629238 0.5979 0.5007 Uncertain 2_152222443_C->T 2 152222443 152222443 C T snp 91.77 0/1 99 21 16 5 0.24 ncRNA_intronic rs2303341 LOC101929319 AU 0.0413339 0.0565 Uncertain 2_152226512_G->A 2 152226512 152226512 G A snp 1432.77 0/1 99 114 58 56 0.49 ncRNA_intronic rs56801020 LOC101929319 AU 0.0413339 0.0565 0.030140 0.0156 0.0651 Uncertain 2_152226570_A->G 2 152226570 152226570 A G snp 2648.77 0/1 99 249 136 113 0.45 exonic rs1046668 TNFAIP6 AU nonsynonymous SNV NM_007115 exon4 c.A431G p.Q144R 0.177117 0.1329 0.191373 0.1518 0.1616 0.14 T 0.0 P -0.951 T 0.0 T 0.0 T Pathogenic 2_152230026_T->C 2 152230026 152230026 T C snp 587.77 0/1 99 47 19 28 0.6 ncRNA_intronic rs13389056 LOC101929319 AU 0.0415335 0.0565 0.030145 0.0155 0.0631 Uncertain 2_152230042_T->C 2 152230042 152230042 T C snp 584.77 0/1 99 53 23 30 0.57 ncRNA_intronic rs76554667 LOC101929319 AU 0.0179712 0.0565 0.000308 0.0076 0.0634 Uncertain 2_152267672_G->A 2 152267672 152267672 G A snp 171.9 1/1 15 6 0 6 1.0 intronic rs7585604 RIF1 AU NM_001177664 exon3 c.836-101G>A 0.927716 1 Uncertain 2_152273503_G->A 2 152273503 152273503 G A snp 549.77 1/1 42 18 0 18 1.0 intronic rs6735771 RIF1 AU NM_001177664 exon6 c.6478+88G>A 0.688299 0.752 Uncertain 2_152293620_C->T 2 152293620 152293620 C T snp 108.77 0/1 99 10 6 4 0.4 intronic rs2444272 RIF1 AU NM_001177664 exon12 c.26580+103C>T 0.639377 0.7619 Uncertain 2_152295141_A->G 2 152295141 152295141 A G snp 550.77 0/1 99 56 31 25 0.45 intronic rs16830036 RIF1 AU NM_001177664 exon14 c.28260-56A>G 0.217851 0.3145 0.207403 Uncertain 2_152303171_G->A 2 152303171 152303171 G A snp 695.77 0/1 99 55 32 23 0.42 intronic rs2432941 RIF1 AU NM_001177664 exon20 c.36152+82G>A 0.657348 0.756 Uncertain 2_152311570_G->A 2 152311570 152311570 G A snp 2383.77 0/1 99 248 131 117 0.47 exonic rs2444263 RIF1 AU nonsynonymous SNV NM_018151 exon22 c.G2506A p.G836S 0.639377 0.756 0.633938 0.6607 0.7801 1 T 0.0 P -0.999 T 0.013 T 0.003 T Pathogenic 2_152314385_G->A 2 152314385 152314385 G A snp 1342.77 0/1 99 104 43 61 0.59 exonic rs16830047 RIF1 AU synonymous SNV NM_018151 exon24 c.G2763A p.L921L 0.248403 0.3224 0.229509 0.2852 0.3289 Uncertain 2_152315549_G->T 2 152315549 152315549 G T snp 68.77 0/1 97 10 7 3 0.3 intronic rs2444260 RIF1 AU NM_001177664 exon25 c.48487+125G>T 0.639177 0.7619 Uncertain 2_152318714_ATC->- 2 152318714 152318716 ATC - indel 598.73 0/1 99 20 8 12 0.6 intronic rs398060665 RIF1 AU NM_001177664 exon28 c.51818-41_51818-39delATC 0.248602 0.3224 0.224890 0.2897 0.3333 Uncertain 2_152320118_G->A 2 152320118 152320118 G A snp 1785.77 0/1 99 122 53 69 0.57 exonic rs2123465 RIF1 AU nonsynonymous SNV NM_018151 exon30 c.G4084A p.V1362M 0.639976 0.7579 0.634189 0.6615 0.7809 0.18 T 0.0 P -0.972 T 0.013 T 0.02 T Pathogenic 2_152322095_A->T 2 152322095 152322095 A T snp 1710.77 0/1 99 188 114 74 0.39 exonic rs2444257 RIF1 AU nonsynonymous SNV NM_018151 exon30 c.A6061T p.N2021Y 0.659545 0.7619 0.683146 0.7067 0.7826 0.41 T 0.0 P -1.008 T 0.0 T 0.0 T Pathogenic 2_152331418_C->G 2 152331418 152331418 C G snp 135.77 0/1 99 22 12 10 0.45 exonic rs1065177 RIF1 AU nonsynonymous SNV NM_018151 exon36 c.C7252G p.L2418V 0.656749 0.7599 0.681560 0.7070 0.7809 1 T 0.000 P -1.010 T 0.001 T 0.003 T Pathogenic 2_152342481_A->G 2 152342481 152342481 A G snp 1236.77 0/1 99 120 67 53 0.44 intronic rs16830090 NEB AR NM_004543 exon1 c.174+34A>G 0.248602 0.3224 0.231324 0.2886 0.3337 Uncertain 2_152349026_G->A 2 152349026 152349026 G A snp 655.77 0/1 99 37 12 25 0.68 intronic rs2288195 NEB AR NM_004543 exon6 c.6735+18G>A 0.638379 0.7569 0.641853 0.6624 0.7801 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000081128.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 2_152349045_C->T 2 152349045 152349045 C T snp 196.77 0/1 99 25 17 8 0.32 intronic rs191711599 NEB AR NM_004543 exon6 c.6735+37C>T 0.000399361 0.000826 0.0008 0.0007 Uncertain 2_152350462_T->C 2 152350462 152350462 T C snp 773.77 0/1 99 81 49 32 0.4 intronic rs4664455 NEB AR NM_004543 exon8 c.8108+81T>C 0.641174 0.7629 Uncertain 2_152352843_C->G 2 152352843 152352843 C G snp 2115.77 0/1 99 181 85 96 0.53 exonic rs7575451 NEB AR nonsynonymous SNV NM_001271208 exon174 c.G24538C p.A8180P 0.627796 0.751 0.628802 0.6499 0.7772 0.85 T 0.000 P -1.033 T 0.0 T 0.001 T Pathogenic 2_152359255_T->C 2 152359255 152359255 T C snp 161.77 0/1 60 8 3 5 0.63 intronic NEB AR NM_004543 exon11 c.17033-51T>C Uncertain 2_152359277_T->- 2 152359277 152359277 T - indel 90.73 0/1 99 13 6 7 0.54 intronic rs201290038 NEB AR NM_004543 exon11 c.17033-29delT 0.294527 0.3991 0.3113 Uncertain 2_152359293_C->T 2 152359293 152359293 C T snp 396.77 0/1 99 27 11 16 0.59 intronic rs538314913 NEB AR NM_004543 exon11 c.17033-13C>T 0.000399361 0.002 0.0004 0.0050 Uncertain 2_152369117_T->C 2 152369117 152369117 T C snp 2407.77 1/1 99 73 0 73 1.0 intronic rs13023600 NEB AR NM_004543 exon17 c.26973-129T>C 0.996605 1 Uncertain 2_152374800_G->A 2 152374800 152374800 G A snp 878.77 0/1 99 87 44 43 0.49 intronic rs16830136 NEB AR NM_004543 exon22 c.32558-31G>A 0.535942 0.5605 0.592388 0.5895 0.5827 Uncertain 2_152381895_G->A 2 152381895 152381895 G A snp 38.77 0/1 67 5 3 2 0.4 intronic rs2288196 NEB AR NM_004543 exon27 c.39514+108G>A 0.544329 0.5645 Uncertain 2_152382454_C->G 2 152382454 152382454 C G snp 885.77 0/1 99 70 35 35 0.5 intronic rs6721666 NEB AR NM_004543 exon28 c.40198-17C>G 0.545727 0.5694 0.595284 0.5943 0.5925 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000081122.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 2_152383913_T->C 2 152383913 152383913 T C snp 972.77 0/1 99 75 33 42 0.56 intronic rs2288198 NEB AR NM_004543 exon31 c.41721-81T>C 0.606829 0.754 Uncertain 2_152387553_T->C 2 152387553 152387553 T C snp 2756.77 0/1 99 212 88 124 0.58 exonic rs4664475 NEB AR synonymous SNV NM_001271208 exon146 c.A21690G p.T7230T 0.491613 0.5585 0.553871 0.5830 0.5825 Uncertain 2_152388228_G->C 2 152388228 152388228 G C snp 2551.77 0/1 99 231 115 116 0.5 intronic rs60806638 NEB AR NM_004543 exon34 c.46032-77G>C 0.500599 0.5625 Uncertain 2_152388416_T->- 2 152388416 152388416 T - indel 1184.73 0/1 99 60 25 35 0.58 splicing rs398090759 NEB AR NM_004543 exon34 c.46137+6delT 0.491214 0.5585 0.547741 0.6045 0.6228 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000081118.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 2_152394534_T->G 2 152394534 152394534 T G snp 967.77 0/1 99 78 41 37 0.47 intronic rs3732310 NEB AR NM_004543 exon38 c.52217+44T>G 0.498802 0.5585 0.559799 0.5837 0.5877 Uncertain 2_152396726_-->A 2 152396726 152396726 - A indel 574.73 0/1 99 45 21 24 0.53 intronic rs398104845 NEB AR NM_004543 exon40 c.54584-131insA 0.598842 0.6895 Uncertain 2_152402171_C->A 2 152402171 152402171 C A snp 67.77 0/1 96 8 3 5 0.63 intronic rs4664055 NEB AR NM_004543 exon43 c.60128-230C>A 0.627396 0.756 Uncertain 2_152403014_C->T 2 152403014 152403014 C T snp 1297.77 0/1 99 116 63 53 0.46 intronic rs4664486 NEB AR NM_004543 exon44 c.60684+57C>T 0.524361 0.5536 Uncertain 2_152404294_C->T 2 152404294 152404294 C T snp 440.77 0/1 99 39 20 19 0.49 intronic rs2288201 NEB AR NM_004543 exon46 c.61979+42C>T 0.624002 0.748 0.620386 0.6402 0.7857 Uncertain 2_152409416_C->T 2 152409416 152409416 C T snp 887.77 0/1 99 97 60 37 0.38 intronic rs2288203 NEB AR NM_004543 exon50 c.67017+126C>T 0.522165 0.5536 Uncertain 2_152409809_C->A 2 152409809 152409809 C A snp 525.77 0/1 99 34 15 19 0.56 intronic rs4575719 NEB AR NM_004543 exon51 c.67638-102C>A 0.494609 0.5496 Uncertain 2_152417064_G->A 2 152417064 152417064 G A snp 550.77 0/1 99 28 6 22 0.79 intronic rs2288206 NEB AR NM_004543 exon54 c.74832-41G>A 0.288938 0.3234 0.280194 0.3631 0.4989 Uncertain 2_152418531_C->T 2 152418531 152418531 C T snp 262.77 0/1 99 42 28 14 0.33 intronic rs554797755 NEB AR NM_004543 exon57 c.76350-92C>T 0.00139776 0.006 Uncertain 2_152422076_C->G 2 152422076 152422076 C G snp 2949.77 0/1 99 227 102 125 0.55 exonic rs2288210 NEB AR nonsynonymous SNV NM_001271208 exon116 c.G18305C p.R6102T 0.653155 0.7758 0.649773 0.6707 0.8002 1 T 1.0 P -0.998 T 0.0 T 0.0 T Pathogenic 2_152422087_A->G 2 152422087 152422087 A G snp 3025.77 0/1 99 243 111 132 0.54 exonic rs2288211 NEB AR synonymous SNV NM_001271208 exon116 c.T18294C p.Y6098Y 0.223842 0.3036 0.226997 0.2955 0.3352 Uncertain 2_152424516_T->C 2 152424516 152424516 T C snp 465.77 0/1 99 31 11 20 0.65 intronic rs2288212 NEB AR NM_004543 exon65 c.82311-68T>C 0.0135783 0.0417 Uncertain 2_152424933_-->A 2 152424933 152424933 - A indel 71.73 0/1 99 34 21 13 0.38 splicing rs3214503 NEB AR NM_004543 exon66 c.82658+2insA 0.506589 0.624 0.505402 0.4669 0.5069 ID=COSM1613493,COSM1613494,COSM1613492;OCCURENCE=1(liver) Pathogenic 2_152425692_T->C 2 152425692 152425692 T C snp 672.77 0/1 99 40 13 27 0.68 intronic rs3732312 NEB AR NM_004543 exon68 c.83508-89T>C 0.223842 0.3046 Uncertain 2_152427249_A->G 2 152427249 152427249 A G snp 564.77 0/1 99 28 8 20 0.71 intronic rs7568873 NEB AR NM_004543 exon70 c.84842+134A>G 0.647764 0.7748 Uncertain 2_152432886_G->A 2 152432886 152432886 G A snp 346.77 0/1 99 22 7 15 0.68 intronic rs61254943 NEB AR NM_004543 exon72 c.90595+18G>A 0.263978 0.3046 0.244727 0.2688 0.3184 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000081111.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 2_152466728_T->C 2 152466728 152466728 T C snp 104.77 0/1 99 13 8 5 0.38 intronic rs58909595 NEB AR NM_004543 exon73 c.124361+94T>C 0.221446 0.2956 Uncertain 2_152467185_G->A 2 152467185 152467185 G A snp 2404.77 0/1 99 202 93 109 0.54 intronic rs147475315 NEB AR NM_004543 exon74 c.124864+48G>A 0.000599042 0.003 0.0003 0.0045 Uncertain 2_152472417_C->T 2 152472417 152472417 C T snp 791.77 0/1 99 48 18 30 0.63 intronic rs62174707 NEB AR NM_004543 exon78 c.130242-98C>T 0.198882 0.2946 Uncertain 2_152481977_A->G 2 152481977 152481977 A G snp 119.77 0/1 99 11 5 6 0.55 intronic rs10186482 NEB AR NM_004543 exon83 c.139774-70A>G 0.45647 0.5863 Uncertain 2_152490219_A->G 2 152490219 152490219 A G snp 1899.77 0/1 99 176 89 87 0.49 exonic rs6709886 NEB AR synonymous SNV NM_001271208 exon65 c.T9363C p.P3121P 0.625998 0.7728 0.598774 0.6362 0.8009 Uncertain 2_152490458_A->G 2 152490458 152490458 A G snp 4337.77 1/1 99 158 1 157 0.99 exonic rs6710212 NEB AR nonsynonymous SNV NM_001271208 exon65 c.T9124C p.C3042R 0.972045 1 0.975690 0.9928 1 0.5 T 1.0 P -0.915 T Pathogenic 2_152496526_A->G 2 152496526 152496526 A G snp 1759.77 0/1 99 129 57 72 0.56 exonic rs6713162 NEB AR nonsynonymous SNV NM_001271208 exon62 c.T8734C p.S2912P 0.445288 0.6339 0.301016 0.2540 0.5970 1 T 1.0 P -0.974 T 0.0 T 0.0 T CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000117776.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 2_152511778_A->C 2 152511778 152511778 A C snp 543.77 0/1 99 34 13 21 0.62 splicing rs10930723 NEB AR NM_004543 exon99 c.169510-5A>C 0.430911 0.6329 0.290505 0.3411 0.6622 Pathogenic 2_152515683_G->A 2 152515683 152515683 G A snp 2112.77 0/1 99 202 112 90 0.45 exonic rs75807392 NEB AR nonsynonymous SNV NM_001271208 exon47 c.C5971T p.H1991Y 0.0920527 0.249 0.042230 0.0774 0.2594 0.42 T 1.0 P -1.006 T 0.677 T 0.428 P CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000117767.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 2_152520027_A->G 2 152520027 152520027 A G snp 2025.77 0/1 99 147 65 82 0.56 intronic rs12620077 NEB AR NM_004543 exon105 c.177788-34A>G 0.420128 0.627 0.285797 0.2487 0.5968 Uncertain 2_152521096_C->T 2 152521096 152521096 C T snp 667.77 0/1 99 95 66 29 0.31 exonic rs10170273 NEB AR synonymous SNV NM_001271208 exon44 c.G5370A p.E1790E 0.434904 0.627 0.295108 0.3018 0.6052 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000117761.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 2_152521539_A->G 2 152521539 152521539 A G snp 268.77 0/1 54 10 2 8 0.8 intronic rs12328501 NEB AR NM_004543 exon107 c.179104+162A>G 0.379593 0.5397 Uncertain 2_152525471_A->G 2 152525471 152525471 A G snp 1041.77 0/1 99 72 27 45 0.63 intronic rs58903550 NEB AR NM_004543 exon111 c.183267-69A>G 0.33726 0.5833 Uncertain 2_152527572_C->T 2 152527572 152527572 C T snp 1964.77 0/1 99 172 93 79 0.46 exonic rs7426114 NEB AR nonsynonymous SNV NM_001271208 exon38 c.G4471A p.V1491M 0.533147 0.379 0.661461 0.7386 0.4071 0.05 T 1.0 P -1.161 T 0.82 T 0.42 P ID=CM1414605;DIS=Stress fracture, association with;TAG=DP;PUB=25023003 DP Pathogenic 2_152527608_C->T 2 152527608 152527608 C T snp 2076.77 0/1 99 162 74 88 0.54 exonic rs34577613 NEB AR nonsynonymous SNV NM_001271208 exon38 c.G4435A p.V1479I 0.335264 0.5754 0.191390 0.1899 0.5497 0.67 T 1.000 P -1.009 T 0.0 T 0.001 T CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000117759.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 2_152531077_A->G 2 152531077 152531077 A G snp 2533.77 0/1 99 222 115 107 0.48 exonic rs6711382 NEB AR nonsynonymous SNV NM_001271208 exon36 c.T3901C p.Y1301H 0.716054 0.5833 0.817781 0.8265 0.5903 0.49 T 1.000 P -0.984 T 0.0 T 0.002 T CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000153548.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 2_152531781_C->A 2 152531781 152531781 C A snp 3747.77 0/1 99 250 115 135 0.54 intronic rs12618063 NEB AR NM_004543 exon115 c.189527-19C>A 0.28774 0.505 0.164308 0.2548 0.5683 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000153549.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 2_152536498_T->A 2 152536498 152536498 T A snp 2548.77 1/1 99 88 0 88 1.0 exonic rs6735208 NEB AR nonsynonymous SNV NM_001271208 exon31 c.A3081T p.K1027N 0.583466 0.4563 0.698568 0.7499 0.4832 0.58 T 1.000 P -1.010 T 0.982 D 0.855 D Pathogenic 2_152552062_A->C 2 152552062 152552062 A C snp 7436.77 1/1 99 250 1 249 1.0 intronic rs6433569 NEB AR NM_004543 exon132 c.209818-29A>C 0.498802 0.378 0.629211 0.7263 0.4245 Uncertain 2_152566433_A->G 2 152566433 152566433 A G snp 1116.77 1/1 81 38 0 38 1.0 intronic rs12464543 NEB AR NM_004543 exon138 c.224004+156A>G 0.590056 0.5248 Uncertain 2_152573902_-->GGC 2 152573902 152573902 - GGC indel 10689.7 1/1 99 187 0 187 1.0 intronic rs34733773 NEB AR NM_004543 exon140 c.231656-27insGGC 0.569289 0.4702 0.677664 0.7454 0.4849 Uncertain 2_152573981_A->G 2 152573981 152573981 A G snp 6018.77 1/1 99 224 1 223 1.0 exonic rs4611637 NEB AR synonymous SNV NM_001271208 exon10 c.T771C p.A257A 0.569289 0.4702 0.686113 0.7438 0.4735 Uncertain 2_152581841_A->G 2 152581841 152581841 A G snp 2070.77 0/1 99 170 88 82 0.48 intronic rs190493045 NEB AR NM_004543 exon144 c.239693-125A>G 0.000998403 0.004 Uncertain 2_152581866_T->C 2 152581866 152581866 T C snp 6687.77 1/1 99 238 0 238 1.0 intronic rs4300824 NEB AR NM_004543 exon144 c.239693-100T>C 0.661941 0.5149 Uncertain 2_152584153_A->C 2 152584153 152584153 A C snp 1171.77 1/1 84 40 0 40 1.0 intronic rs4664499 NEB AR NM_004543 exon145 c.241931-51A>C 0.748203 0.5774 Uncertain 2_152684704_-->C 2 152684704 152684704 - C indel 3208.73 1/1 99 133 4 129 0.97 UTR5 rs150910136 ARL5A AU 0.4920 0.4249 Uncertain 2_152695967_T->A 2 152695967 152695967 T A snp 315.77 0/1 99 31 19 12 0.39 intronic rs77426822 CACNB4 AU,AD NM_001145798 exon1 c.261+74T>A 0.0361422 0.0496 Uncertain 2_152698480_C->T 2 152698480 152698480 C T snp 957.77 0/1 99 76 35 41 0.54 exonic rs1805028 CACNB4 AU,AD synonymous SNV NM_000726 exon13 c.G1239A p.L413L 0.140575 0.3562 0.048114 0.0828 0.3721 CLINSIG=probable-non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=no_assertion_criteria_provided|criteria_provided\x2c_single_submitter;CLNACC=RCV000116533.2|RCV000124117.1;CLNDSDB=MedGen|MedGen;CLNDSDBID=CN169374|CN221809 Uncertain 2_152729138_T->C 2 152729138 152729138 T C snp 430.77 1/1 33 12 0 12 1.0 intronic rs770609 CACNB4 AU,AD NM_001145798 exon8 c.33375+131T>C 0.992412 1 Uncertain 2_152827973_A->G 2 152827973 152827973 A G snp 595.77 0/1 99 50 24 26 0.52 intronic rs7567588 CACNB4 AU,AD NM_001005747 exon13 c.134550-2209A>G 0.644768 0.2758 Uncertain 2_152828281_C->G 2 152828281 152828281 C G snp 528.77 0/1 99 52 32 20 0.38 intronic rs7607341 CACNB4 AU,AD NM_001005747 exon13 c.134550-1901C>G 0.645367 0.2788 Uncertain 2_152954985_G->C 2 152954985 152954985 G C snp 3042.77 1/1 99 101 0 101 1.0 intronic rs34347895 CACNB4 AU,AD NM_001145798 exon12 c.259295+58G>C 0.279153 0.5675 0.144454 0.1873 0.5756 Uncertain 2_152955084_A->C 2 152955084 152955084 A C snp 49.77 0/1 78 53 37 16 0.3 intronic CACNB4 AU,AD NM_001005746 exon14 c.259522-70A>C Uncertain 2_152988610_-->T 2 152988610 152988610 - T indel 5929.73 1/1 99 150 1 149 0.99 intronic rs397816774 STAM2 AU NM_005843 exon4 c.11540-17insT 0.570487 0.8542 0.408517 0.4313 0.8498 Uncertain 2_152991916_T->- 2 152991916 152991916 T - indel 241.77 1/1 21 7 0 7 1.0 intronic rs3835745 STAM2 AU NM_005843 exon7 c.14935-106delT 0.26877 0.5813 Uncertain 2_152992165_-->AATA 2 152992165 152992165 - AATA indel 1654.73 1/1 75 26 0 26 1.0 intronic rs139474811 STAM2 AU NM_005843 exon7 c.15030+48insAATA 0.18151 0.5407 0.017153 0.0963 0.5530 Uncertain 2_152992237_G->A 2 152992237 152992237 G A snp 141.03 1/1 12 4 0 4 1.0 intronic rs12612031 STAM2 AU NM_005843 exon7 c.15030+120G>A 0.511382 0.8532 Uncertain 2_153000337_T->A 2 153000337 153000337 T A snp 1839.77 1/1 99 69 0 69 1.0 splicing rs12617139 STAM2 AU NM_005843 exon8 c.23253-3T>A 0.70647 0.874 0.609555 0.5866 0.8754 Pathogenic 2_153378459_T->C 2 153378459 153378459 T C snp 1966.77 0/1 99 176 86 90 0.51 exonic rs4664114 FMNL2 AU synonymous SNV NM_052905 exon2 c.T120C p.N40N 0.690695 0.751 0.654282 0.6840 0.7378 Uncertain 2_153378574_A->G 2 153378574 153378574 A G snp 544.77 0/1 99 47 29 18 0.38 intronic rs4664592 FMNL2 AU NM_052905 exon2 c.186423+34A>G 0.538738 0.6141 0.555424 0.5881 0.5763 Uncertain 2_153399497_A->C 2 153399497 153399497 A C snp 83.77 0/1 28 4 1 3 0.75 intronic rs12614414 FMNL2 AU NM_052905 exon3 c.207216+164A>C 0.292532 0.2837 Uncertain 2_153405594_G->A 2 153405594 153405594 G A snp 746.77 0/1 99 76 42 34 0.45 exonic rs1155779 FMNL2 AU synonymous SNV NM_052905 exon4 c.G342A p.L114L 0.652356 0.7976 0.561693 0.6537 0.8240 Uncertain 2_153415170_A->C 2 153415170 153415170 A C snp 288.77 0/1 99 26 14 12 0.46 intronic rs6705427 FMNL2 AU NM_052905 exon5 c.223136-83A>C 0.513578 0.5863 Uncertain 2_153415235_T->G 2 153415235 153415235 T G snp 885.77 0/1 99 100 58 42 0.42 intronic rs10195938 FMNL2 AU NM_052905 exon5 c.223136-18T>G 0.0007 0.0017 Uncertain 2_153415244_T->C 2 153415244 153415244 T C snp 74.77 0/1 99 113 94 19 0.17 intronic rs35066174 FMNL2 AU NM_052905 exon5 c.223136-9T>C 0.502396 0.626 0.5686 0.6408 Uncertain 2_153415244_-->C 2 153415244 153415244 - C indel 2978.73 1/1 99 112 12 100 0.89 intronic rs70974869 FMNL2 AU NM_052905 exon5 c.223136-9insC 0.192692 0.1984 0.1546 0.1794 Uncertain 2_153415376_T->G 2 153415376 153415376 T G snp 4892.77 1/1 99 192 1 191 0.99 intronic rs6434098 FMNL2 AU NM_052905 exon5 c.223220+39T>G 0.773163 0.8234 0.791999 0.7590 0.8234 Uncertain 2_153415588_T->C 2 153415588 153415588 T C snp 139.03 1/1 12 4 0 4 1.0 intronic rs6434099 FMNL2 AU NM_052905 exon5 c.223220+251T>C 0.725839 0.8244 Uncertain 2_153417325_A->G 2 153417325 153417325 A G snp 3908.77 1/1 99 123 0 123 1.0 intronic rs6713836 FMNL2 AU NM_052905 exon6 c.225279-71A>G 0.755591 0.8244 Uncertain 2_153435288_G->A 2 153435288 153435288 G A snp 161.77 0/1 99 13 4 9 0.69 intronic rs12693407 FMNL2 AU NM_052905 exon8 c.243284-113G>A 0.637181 0.8968 Uncertain 2_153435434_C->T 2 153435434 153435434 C T snp 589.77 0/1 99 77 46 31 0.4 exonic rs16831399 FMNL2 AU synonymous SNV NM_052905 exon8 c.C738T p.H246H 0.142772 0.0367 0.172080 0.1299 0.0332 Uncertain 2_153463985_ACAC->- 2 153463985 153463988 ACAC - indel 275.8 1/1 18 12 0 12 1.0 intronic rs397986318 FMNL2 AU NM_052905 exon10 c.271810+58_271810+61delACAC Uncertain 2_153468107_C->T 2 153468107 153468107 C T snp 1420.77 0/1 99 150 85 65 0.43 exonic rs35776654 FMNL2 AU synonymous SNV NM_052905 exon11 c.C1050T p.D350D 0.0519169 0.0069 0.104139 0.1566 0.0185 Uncertain 2_153476066_-->CCA 2 153476066 153476066 - CCA indel 832.77 0/1 20 23 4 19 0.83 exonic rs3080632 FMNL2 AU nonframeshift insertion NM_052905 exon15 c.1671_1672insCCA p.P557delinsPP 0.998003 1 0.9852 0.9897 ID=COSM1007884;OCCURENCE=3(breast),1(endometrium) Uncertain 2_153478931_T->C 2 153478931 153478931 T C snp 2149.77 1/1 99 55 0 55 1.0 intronic rs7609122 FMNL2 AU NM_052905 exon15 c.284115+2699T>C 0.964457 1 Uncertain 2_153481943_T->C 2 153481943 153481943 T C snp 2605.77 1/1 99 83 1 82 0.99 intronic rs2346532 FMNL2 AU NM_052905 exon16 c.289834-8T>C 0.998203 1 0.998669 0.9994 1 Uncertain 2_153483257_T->C 2 153483257 153483257 T C snp 1367.77 1/1 99 37 0 37 1.0 intronic rs7604573 FMNL2 AU NM_052905 exon17 c.291124+16T>C 0.547724 0.8333 0.470783 0.5470 0.8486 Uncertain 2_153484685_G->A 2 153484685 153484685 G A snp 502.77 1/1 39 14 0 14 1.0 intronic rs3811570 FMNL2 AU NM_052905 exon18 c.292695-127G>A 0.532748 0.8175 Uncertain 2_153492910_G->T 2 153492910 153492910 G T snp 2180.77 1/1 99 76 0 76 1.0 intronic rs1561267 FMNL2 AU NM_052905 exon22 c.300823-30G>T 0.826478 0.8532 0.848095 0.8844 0.8602 Uncertain 2_153497168_C->T 2 153497168 153497168 C T snp 349.78 1/1 27 10 0 10 1.0 intronic rs1465818 FMNL2 AU NM_052905 exon25 c.305187-136C>T 0.998003 1 Uncertain 2_153514583_G->C 2 153514583 153514583 G C snp 786.77 1/1 57 28 0 28 1.0 intronic rs6713779 PRPF40A AU NM_017892 exon2 c.1715+49G>C 0.799521 0.7341 0.819922 0.8151 0.7323 Uncertain 2_153514689_C->T 2 153514689 153514689 C T snp 56.74 1/1 6 2 0 2 1.0 intronic rs6746079 PRPF40A AU NM_017892 exon2 c.1715+155C>T 0.632588 0.7173 Uncertain 2_153519524_A->G 2 153519524 153519524 A G snp 2301.77 1/1 99 84 1 83 0.99 intronic rs1036526 PRPF40A AU NM_017892 exon7 c.6729-24A>G 0.765775 0.7341 0.787752 0.8141 0.7423 Uncertain 2_153520782_A->G 2 153520782 153520782 A G snp 1119.77 1/1 81 37 0 37 1.0 intronic rs3762507 PRPF40A AU NM_017892 exon10 c.7947+16A>G 0.765974 0.7341 0.789864 0.8140 0.7423 Uncertain 2_153520819_C->A 2 153520819 153520819 C A snp 396.77 1/1 30 13 0 13 1.0 intronic rs3762506 PRPF40A AU NM_017892 exon10 c.7947+53C>A 0.833866 0.7341 Uncertain 2_153527017_C->T 2 153527017 153527017 C T snp 298.78 1/1 24 8 0 8 1.0 intronic rs2118377 PRPF40A AU NM_017892 exon12 c.14076+122C>T 0.833466 0.7341 Uncertain 2_153529361_T->C 2 153529361 153529361 T C snp 263.8 1/1 21 8 0 8 1.0 intronic rs2304559 PRPF40A AU NM_017892 exon15 c.16672-130T>C 0.766773 0.7341 Uncertain 2_153535670_C->T 2 153535670 153535670 C T snp 603.77 1/1 45 24 0 24 1.0 intronic rs10166987 PRPF40A AU NM_017892 exon19 c.22804+47C>T 0.998602 1 0.998774 0.9996 1 Uncertain 2_153549814_G->C 2 153549814 153549814 G C snp 4395.77 1/1 99 150 0 150 1.0 intronic rs10172024 PRPF40A AU NM_017892 exon23 c.36763+232G>C 0.767173 0.7371 Uncertain 2_153572438_C->T 2 153572438 153572438 C T snp 1984.77 1/1 99 73 0 73 1.0 intronic rs2346548 PRPF40A AU NM_017892 exon25 c.59689-70C>T 0.996605 1 Uncertain 2_153573528_C->T 2 153573528 153573528 C T snp 94.28 1/1 9 3 0 3 1.0 intronic rs4664605 PRPF40A AU NM_017892 exon26 c.61050-341C>T 0.664736 0.7183 Uncertain 2_153576279_A->C 2 153576279 153576279 A C snp 172.9 1/1 15 5 0 5 1.0 intronic rs7594309 ARL6IP6 AU NM_152522 exon1 c.400+741A>C 0.980032 0.9583 Uncertain 2_153576580_-->TTTC 2 153576580 153576580 - TTTC indel 5601.73 0/1 99 124 30 94 0.76 intronic rs145388721 ARL6IP6 AU NM_152522 exon2 c.1908-466insTTTC 0.449281 0.4395 Uncertain 2_153576599_A->C 2 153576599 153576599 A C snp 1486.77 0/1 99 90 31 59 0.66 intronic rs13418460 ARL6IP6 AU NM_152522 exon2 c.1908-447A>C Uncertain 2_153576607_G->A 2 153576607 153576607 G A snp 1207.77 0/1 99 83 31 52 0.63 intronic rs13430085 ARL6IP6 AU NM_152522 exon2 c.1908-439G>A Uncertain 2_153577013_G->A 2 153577013 153577013 G A snp 5847.77 1/1 99 204 0 204 1.0 intronic rs9646744 ARL6IP6 AU NM_152522 exon2 c.1908-33G>A 0.802915 0.7381 0.822697 0.8240 0.7434 Uncertain 2_155099537_T->G 2 155099537 155099537 T G snp 264.77 0/1 99 18 9 9 0.5 intronic rs12477393 GALNT13 AU NM_001301627 exon4 c.298408+119T>G 0.151957 0.0804 Uncertain 2_155265623_G->A 2 155265623 155265623 G A snp 3256.77 1/1 99 109 0 109 1.0 intronic rs1405936 GALNT13 AU NM_001301627 exon9 c.464584+29G>A 0.599441 0.749 0.576515 0.6338 0.7280 Uncertain 2_155306885_C->T 2 155306885 155306885 C T snp 1292.77 1/1 93 44 0 44 1.0 intronic rs697648 GALNT13 AU NM_001301627 exon12 c.505912-37C>T 0.982228 1 0.975854 0.9937 1 Uncertain 2_157183212_C->- 2 157183212 157183212 C - indel 948.73 0/1 99 65 35 30 0.46 intronic rs35479735 NR4A2 AU NM_006186 exon3 c.974-17delC 0.703075 0.4732 0.822632 0.7279 0.4398 Uncertain 2_157189011_G->C 2 157189011 157189011 G C snp 1794.77 1/1 99 72 0 72 1.0 UTR5 rs834836 NR4A2 AU 0.988019 1 0.9991 1 0.04 T 0.000 P -1.008 T Uncertain 2_157406249_G->A 2 157406249 157406249 G A snp 5560.77 1/1 99 198 0 198 1.0 exonic rs2116665 GPD2 AD nonsynonymous SNV NM_001083112 exon7 c.G791A p.R264H 0.657947 0.7847 0.630094 0.6831 0.7979 0.08 T 0.872 P -0.981 T 0.02 T 0.013 T ID=CM012769;DIS=Increased plasma FFA and glycerol levels;TAG=FP;PUB=11243726 FP Pathogenic 2_157406296_A->C 2 157406296 157406296 A C snp 3636.77 1/1 99 127 0 127 1.0 intronic rs2116664 GPD2 AD NM_000408 exon7 c.73667+12A>C 0.72524 0.7927 0.711672 0.7184 0.8079 Uncertain 2_157425801_A->G 2 157425801 157425801 A G snp 492.77 0/1 99 37 16 21 0.57 intronic rs67602053 GPD2 AD NM_000408 exon11 c.93257-73A>G 0.11242 0.0367 Uncertain 2_157426115_CTGGCAGCAAT->- 2 157426115 157426125 CTGGCAGCAAT - indel 1741.73 0/1 99 31 11 20 0.65 intronic rs147508905 GPD2 AD NM_000408 exon11 c.93433+65_93433+75delCTGGCAGCAAT 0.0732827 0.0367 Uncertain 2_157427593_T->C 2 157427593 157427593 T C snp 1101.77 1/1 81 42 0 42 1.0 intronic rs1469652 GPD2 AD NM_000408 exon13 c.95028-52T>C 0.982029 1 Uncertain 2_157427837_C->A 2 157427837 157427837 C A snp 1089.77 1/1 78 38 0 38 1.0 intronic rs1469651 GPD2 AD NM_000408 exon13 c.95187+33C>A 0.688299 0.7927 0.663386 0.7023 0.8085 Uncertain 2_157427850_G->A 2 157427850 157427850 G A snp 837.77 1/1 60 31 0 31 1.0 intronic rs1469650 GPD2 AD NM_000408 exon13 c.95187+46G>A 0.688299 0.7927 0.663386 0.7019 0.8085 Uncertain 2_158114824_C->T 2 158114824 158114824 C T snp 1694.77 0/1 99 139 73 66 0.47 exonic rs3739112 GALNT5 AU nonsynonymous SNV NM_014568 exon1 c.C230T p.P77L 0.0315495 0.1161 0.000538 0.0184 0.1407 0 D 1 N -1.069 T 0.001 T 0.003 T ID=COSM148960;OCCURENCE=1(stomach) Pathogenic 2_158140717_C->T 2 158140717 158140717 C T snp 43.77 0/1 72 4 2 2 0.5 intronic rs2289942 GALNT5 AU NM_014568 exon2 c.26199-76C>T 0.279952 0.4752 Uncertain 2_158141071_C->T 2 158141071 158141071 C T snp 891.77 0/1 99 61 27 34 0.56 intronic rs714648 GALNT5 AU NM_014568 exon2 c.26366+111C>T 0.189896 0.1171 Uncertain 2_158141079_T->C 2 158141079 158141079 T C snp 571.77 0/1 99 53 31 22 0.42 intronic rs2289941 GALNT5 AU NM_014568 exon2 c.26366+119T>C 0.221645 0.4762 Uncertain 2_158157361_C->T 2 158157361 158157361 C T snp 1715.77 0/1 99 132 66 66 0.5 exonic rs3214040 GALNT5 AU synonymous SNV NM_014568 exon7 c.C2289T p.H763H 0.798922 0.8403 0.821928 0.8651 0.8130 Uncertain 2_158162475_C->T 2 158162475 158162475 C T snp 441.77 0/1 99 29 13 16 0.55 intronic rs3214039 GALNT5 AU NM_014568 exon8 c.47747+134C>T 0.799521 0.8403 Uncertain 2_158162521_T->G 2 158162521 158162521 T G snp 252.77 0/1 99 12 4 8 0.67 intronic rs3816595 GALNT5 AU NM_014568 exon8 c.47747+180T>G 0.798922 0.8403 Uncertain 2_158165004_C->T 2 158165004 158165004 C T snp 257.77 0/1 99 18 9 9 0.5 intronic rs6728956 GALNT5 AU NM_014568 exon9 c.50484-74C>T 0.776957 0.7411 Uncertain 2_158165401_A->G 2 158165401 158165401 A G snp 80.77 0/1 30 4 1 3 0.75 intronic rs2305965 GALNT5 AU NM_014568 exon9 c.50646+161A>G 0.793131 0.744 Uncertain 2_158283710_A->G 2 158283710 158283710 A G snp 82.28 1/1 9 3 0 3 1.0 intronic rs155614 CYTIP AU NM_004288 exon3 c.11674-152A>G Uncertain 2_158284056_C->T 2 158284056 158284056 C T snp 135.03 1/1 12 4 0 4 1.0 intronic rs155613 CYTIP AU NM_004288 exon3 c.11744+124C>T 0.900759 0.8998 Uncertain 2_158291107_-->AG 2 158291107 158291107 - AG indel 339.74 1/1 27 9 0 9 1.0 intronic rs70987792 CYTIP AU NM_004288 exon7 c.19021-102insAG Uncertain 2_158291188_A->C 2 158291188 158291188 A C snp 1025.77 1/1 72 42 0 42 1.0 intronic rs11904180 CYTIP AU NM_004288 exon7 c.19021-21A>C 0.816094 0.8363 0.832205 0.8657 0.8520 Uncertain 2_158395079_C->G 2 158395079 158395079 C G snp 3889.77 1/1 99 136 0 136 1.0 splicing rs7576514 ACVR1C AU NM_001111032 exon2 c.4655-5C>G 0.844649 0.9296 0.850300 0.8657 0.9136 Pathogenic 2_158400908_C->T 2 158400908 158400908 C T snp 1671.77 1/1 99 56 0 56 1.0 intronic rs6728987 ACVR1C AU NM_001111032 exon5 c.10527-48C>T 0.784545 0.9256 0.764878 0.8007 0.9123 Uncertain 2_158401137_T->C 2 158401137 158401137 T C snp 1955.77 1/1 99 63 0 63 1.0 intronic rs10432556 ACVR1C AU NM_001111032 exon5 c.10695+13T>C 0.726038 0.9276 0.704752 0.7834 0.9131 Uncertain 2_158626980_C->T 2 158626980 158626980 C T snp 2553.77 1/1 99 99 0 99 1.0 exonic rs1146031 ACVR1 AD synonymous SNV NM_001105 exon7 c.G690A p.E230E 0.913938 0.9712 0.911502 0.9642 0.9682 Uncertain 2_158636910_G->A 2 158636910 158636910 G A snp 2337.77 0/1 99 198 98 100 0.51 exonic rs2227861 ACVR1 AD synonymous SNV NM_001105 exon4 c.C270T p.A90A 0.650958 0.9067 0.604721 0.7502 0.9279 Uncertain 2_158637137_A->G 2 158637137 158637137 A G snp 613.77 0/1 99 81 46 35 0.43 intronic rs1866885 ACVR1 AD NM_001105 exon8 c.43070+25A>G 0.714856 0.8383 0.587683 0.5304 0.5402 Uncertain 2_158655883_-->AA 2 158655883 158655883 - AA indel 417.73 0/1 99 34 17 17 0.5 intronic rs111834201 ACVR1 AD NM_001105 exon9 c.61896-55insAA 0.558706 0.6825 Uncertain 2_158958461_T->G 2 158958461 158958461 T G snp 114.77 0/1 99 8 4 4 0.5 UTR5 rs6757689 UPP2 AU 0.148962 0.1597 Uncertain 2_158958471_G->A 2 158958471 158958471 G A snp 102.77 0/1 99 14 10 4 0.29 UTR5 rs6710348 UPP2 AU 0.148962 0.1597 Uncertain 2_158958551_-->A 2 158958551 158958551 - A indel 1037.73 0/1 99 75 46 29 0.39 splicing rs11368509 UPP2 AU NM_001135098 exon3 c.106841insA 0.148962 0.1597 0.105335 0.0707 0.1308 Pathogenic 2_158958605_G->T 2 158958605 158958605 G T snp 975.77 0/1 99 111 65 46 0.41 exonic rs6710480 UPP2 AU nonsynonymous SNV NM_173355 exon1 c.G30T p.R10S 0.169529 0.1627 0.127326 0.0771 0.1314 0.87 T 0.0 P -0.952 T 0.0 T 0.001 T Pathogenic 2_158958679_T->A 2 158958679 158958679 T A snp 771.77 0/1 99 72 40 32 0.44 intronic rs6760699 UPP2 AU NM_001135098 exon3 c.106927+42T>A 0.15655 0.1627 0.111410 0.0726 0.1312 Uncertain 2_158958767_G->A 2 158958767 158958767 G A snp 110.77 0/1 99 10 6 4 0.4 intronic rs6713525 UPP2 AU NM_001135098 exon3 c.106927+130G>A 0.169728 0.1627 Uncertain 2_159028800_A->G 2 159028800 159028800 A G snp 346.78 1/1 27 13 0 13 1.0 ncRNA_intronic rs2222390 CCDC148-AS1 AU 0.986222 1 0.985365 0.9961 1 Uncertain 2_159035344_-->T 2 159035344 159035344 - T indel 1040.73 0/1 99 108 60 48 0.44 ncRNA_intronic rs3836162 CCDC148-AS1 AU 0.189856 0.2771 0.6069 Uncertain 2_159077019_A->C 2 159077019 159077019 A C snp 1595.77 1/1 99 60 0 60 1.0 ncRNA_intronic rs958671 CCDC148-AS1 AU 0.714657 0.8859 Uncertain 2_159166069_T->C 2 159166069 159166069 T C snp 3989.77 1/1 99 135 1 134 0.99 exonic rs7559772 CCDC148 AU nonsynonymous SNV NM_138803 exon9 c.A986G p.K329R 0.955871 0.998 0.947024 0.9556 0.9933 1 T 0.000 P -0.955 T 0.0 T 0.003 T Pathogenic 2_159195225_T->G 2 159195225 159195225 T G snp 173.77 0/1 99 20 12 8 0.4 intronic rs11686762 CCDC148 AU NM_138803 exon8 c.166613-12T>G 0.111821 0.1409 0.180818 0.1949 0.1239 Uncertain 2_159312733_C->T 2 159312733 159312733 C T snp 1226.77 1/1 90 38 0 38 1.0 intronic rs1111212 CCDC148 AU NM_138803 exon14 c.284302-193C>T 0.793331 0.8899 Uncertain 2_159434492_G->A 2 159434492 159434492 G A snp 531.77 1/1 42 17 0 17 1.0 intronic rs2356188 PKP4 AU NM_001304971 exon3 c.44199+597G>A 0.914736 0.9762 Uncertain 2_159434500_A->G 2 159434500 159434500 A G snp 184.77 0/1 99 20 10 10 0.5 intronic rs2356189 PKP4 AU NM_001304971 exon3 c.44199+605A>G 0.533746 0.6567 Uncertain 2_159459863_A->G 2 159459863 159459863 A G snp 119.77 0/1 99 7 3 4 0.57 intronic rs2051947 PKP4 AU NM_001304971 exon4 c.69920+247A>G 0.584864 0.619 Uncertain 2_159488093_G->A 2 159488093 159488093 G A snp 125.78 0/1 27 6 1 5 0.83 intronic rs77912740 PKP4 AU NM_001304971 exon8 c.98568-171G>A 0.0822684 0.0496 Uncertain 2_159498940_A->T 2 159498940 159498940 A T snp 367.77 1/1 30 10 0 10 1.0 intronic rs2253537 PKP4 AU NM_001304971 exon11 c.109301-57A>T 0.785144 0.9712 Uncertain 2_159520085_G->C 2 159520085 159520085 G C snp 547.77 1/1 42 17 0 17 1.0 intronic rs3771679 PKP4 AU NM_001304971 exon15 c.130261+128G>C 0.795527 0.8413 Uncertain 2_159522879_C->G 2 159522879 159522879 C G snp 158.77 0/1 97 9 3 6 0.67 intronic rs2248854 PKP4 AU NM_001304971 exon16 c.133228-45C>G 0.690695 0.7907 0.580501 0.5998 0.7902 Uncertain 2_159526461_C->T 2 159526461 159526461 C T snp 449.77 0/1 99 39 21 18 0.46 intronic rs13396528 PKP4 AU NM_001005476 exon17 c.136731+34C>T 0.10024 0.0506 0.117023 0.1140 0.0396 Uncertain 2_159530651_A->T 2 159530651 159530651 A T snp 814.77 0/1 99 57 26 31 0.54 intronic rs2711034 PKP4 AU NM_001005476 exon19 c.140816+139A>T 0.501997 0.6091 Uncertain 2_159534863_A->G 2 159534863 159534863 A G snp 730.77 1/1 57 19 0 19 1.0 intronic rs2356505 PKP4 AU NM_001005476 exon20 c.145396-229A>G 0.796725 0.8373 Uncertain 2_159534874_C->T 2 159534874 159534874 C T snp 1090.77 1/1 81 27 0 27 1.0 intronic rs2356506 PKP4 AU NM_001005476 exon20 c.145396-218C>T 0.916134 0.9732 Uncertain 2_159534889_C->T 2 159534889 159534889 C T snp 1555.77 1/1 99 43 0 43 1.0 intronic rs2711040 PKP4 AU NM_001005476 exon20 c.145396-203C>T 0.777356 0.8353 Uncertain 2_159651734_A->G 2 159651734 159651734 A G snp 418.77 1/1 33 12 0 12 1.0 upstream rs925781 DAPL1 AU 0.681909 0.8313 Uncertain 2_159661077_C->T 2 159661077 159661077 C T snp 393.77 1/1 30 10 0 10 1.0 intronic rs2271663 DAPL1 AU NM_001017920 exon2 c.8997+196C>T 0.598442 0.8284 Uncertain 2_159663599_T->C 2 159663599 159663599 T C snp 3527.77 1/1 99 134 0 134 1.0 exonic rs9869 DAPL1 AU nonsynonymous SNV NM_001017920 exon3 c.T179C p.L60P 0.590455 0.8036 0.473243 0.5072 0.7918 0.06 T 1.000 P -1.102 T 0.763 T 0.549 P Pathogenic 2_159672168_G->A 2 159672168 159672168 G A snp 1267.77 0/1 99 116 60 56 0.48 intronic rs1515922 DAPL1 AU NM_001017920 exon4 c.20332-48G>A 0.120008 0.0764 0.145087 0.1519 0.0686 Uncertain 2_159672252_G->A 2 159672252 159672252 G A snp 2529.77 0/1 99 211 99 112 0.53 exonic rs61740878 DAPL1 AU synonymous SNV NM_001017920 exon4 c.G243A p.A81A 0.102436 0.0764 0.127480 0.1471 0.0689 Uncertain 2_159672442_G->A 2 159672442 159672442 G A snp 625.77 0/1 99 62 37 25 0.4 UTR3 rs10016 DAPL1 AU 0.445487 0.13 Uncertain 2_159954420_C->T 2 159954420 159954420 C T snp 40.77 0/1 69 7 4 3 0.43 intronic rs13414916 TANC1 AU NM_033394 exon4 c.31924+74C>T 0.236621 0.2788 Uncertain 2_159992572_C->T 2 159992572 159992572 C T snp 232.8 1/1 21 10 0 10 1.0 intronic rs35935932 TANC1 AU NM_033394 exon5 c.70282-132C>T 0.88778 0.9474 Uncertain 2_159992699_C->T 2 159992699 159992699 C T snp 901.77 0/1 99 79 40 39 0.49 splicing rs2288105 TANC1 AU NM_033394 exon5 c.70282-5C>T 0.226238 0.4554 0.100645 0.1485 0.4799 Pathogenic 2_160019863_A->G 2 160019863 160019863 A G snp 2492.77 1/1 99 94 0 94 1.0 exonic rs12466551 TANC1 AU nonsynonymous SNV NM_033394 exon8 c.A752G p.N251S 0.979832 1 0.987299 0.9907 0.9999 1 T 0.000 P -0.933 T 0.0 T 0.0 T Pathogenic 2_160033174_A->G 2 160033174 160033174 A G snp 472.77 1/1 36 12 0 12 1.0 intronic rs759034 TANC1 AU NM_033394 exon13 c.110607+145A>G 0.979633 1 Uncertain 2_160034919_A->G 2 160034919 160034919 A G snp 627.77 1/1 48 16 0 16 1.0 intronic rs4665031 TANC1 AU NM_033394 exon14 c.112644-147A>G 0.979633 1 Uncertain 2_160035195_C->T 2 160035195 160035195 C T snp 2486.77 0/1 99 250 139 111 0.44 exonic rs12988603 TANC1 AU synonymous SNV NM_033394 exon14 c.C2031T p.N677N 0.159744 0.0635 0.281732 0.2707 0.0456 Uncertain 2_160035207_T->C 2 160035207 160035207 T C snp 7319.77 1/1 99 250 0 250 1.0 exonic rs6748288 TANC1 AU synonymous SNV NM_033394 exon14 c.T2043C p.N681N 0.979034 1 0.985946 0.9904 0.9999 Uncertain 2_160042198_G->A 2 160042198 160042198 G A snp 359.77 0/1 99 22 11 11 0.5 intronic rs17494014 TANC1 AU NM_033394 exon15 c.119879-103G>A 0.117612 0.003 Uncertain 2_160051067_T->G 2 160051067 160051067 T G snp 433.77 0/1 99 52 34 18 0.35 intronic rs4665037 TANC1 AU NM_033394 exon17 c.128582+63T>G 0.0537141 0.0208 Uncertain 2_160073881_C->T 2 160073881 160073881 C T snp 139.77 0/1 99 19 11 8 0.42 intronic rs1035058 TANC1 AU NM_033394 exon20 c.151585-126C>T 0.295927 0.4901 Uncertain 2_160073895_G->C 2 160073895 160073895 G C snp 448.77 0/1 99 24 10 14 0.58 intronic rs4665042 TANC1 AU NM_033394 exon20 c.151585-112G>C 0.202077 0.0476 Uncertain 2_160074181_G->C 2 160074181 160074181 G C snp 119.77 0/1 95 8 3 5 0.63 intronic rs2288107 TANC1 AU NM_033394 exon20 c.151719+40G>C 0.159345 0.249 0.091872 0.1143 0.25 Uncertain 2_160075886_-->C 2 160075886 160075886 - C indel 3894.73 0/1 99 250 130 120 0.48 intronic rs146371641 TANC1 AU NM_033394 exon21 c.153450+14insC 0.239018 0.0476 0.434012 0.3968 0.0466 Uncertain 2_160076026_C->G 2 160076026 160076026 C G snp 1187.77 0/1 99 102 59 43 0.42 intronic rs2303334 TANC1 AU NM_033394 exon21 c.153450+154C>G 0.194888 0.0476 Uncertain 2_160076077_T->A 2 160076077 160076077 T A snp 868.77 0/1 99 59 28 31 0.53 intronic rs2303335 TANC1 AU NM_033394 exon22 c.153780-125T>A 0.194888 0.0476 Uncertain 2_160082354_C->T 2 160082354 160082354 C T snp 1527.77 0/1 99 137 72 65 0.47 intronic rs12692544 TANC1 AU NM_033394 exon24 c.159868+64C>T 0.747204 0.6597 Uncertain 2_160082364_A->G 2 160082364 160082364 A G snp 1348.77 0/1 99 125 65 60 0.48 intronic rs34344829 TANC1 AU NM_033394 exon24 c.159868+74A>G 0.194888 0.0476 Uncertain 2_160082384_T->A 2 160082384 160082384 T A snp 1012.77 0/1 99 87 44 43 0.49 intronic rs13419975 TANC1 AU NM_033394 exon24 c.159868+94T>A 0.405551 0.2887 Uncertain 2_160084224_G->A 2 160084224 160084224 G A snp 955.77 0/1 99 90 46 44 0.49 intronic rs2042494 TANC1 AU NM_033394 exon25 c.161907-105G>A 0.751797 0.6627 Uncertain 2_160084263_A->G 2 160084263 160084263 A G snp 1188.77 0/1 99 117 62 55 0.47 intronic rs2042495 TANC1 AU NM_033394 exon25 c.161907-66A>G 0.748203 0.6627 Uncertain 2_160084534_A->G 2 160084534 160084534 A G snp 41.77 0/1 70 4 2 2 0.5 intronic rs2288111 TANC1 AU NM_033394 exon25 c.162054+58A>G 0.748003 0.6627 Uncertain 2_160087535_T->G 2 160087535 160087535 T G snp 1883.77 0/1 99 166 85 81 0.49 UTR3 rs3821301 TANC1 AU 0.748203 0.6637 0.828754 0.8364 0.6591 Uncertain 2_160112881_G->T 2 160112881 160112881 G T snp 639.77 0/1 99 75 47 28 0.37 exonic rs7591849 WDSUB1 AU nonsynonymous SNV NM_001128212 exon9 c.C958A p.R320S 0.473642 0.2738 0.622328 0.5046 0.2466 0.76 T 0.0 P -0.947 T 0.0 T 0.0 T Pathogenic 2_160114437_G->A 2 160114437 160114437 G A snp 429.77 0/1 99 39 24 15 0.38 intronic rs3213715 WDSUB1 AU NM_001128212 exon5 c.21912-18G>A 0.40016 0.2738 0.545294 0.4599 0.2489 Uncertain 2_160116281_A->G 2 160116281 160116281 A G snp 757.77 0/1 99 73 38 35 0.48 intronic rs4665052 WDSUB1 AU NM_001128212 exon6 c.23777-39A>G 0.192492 0.0476 0.377594 0.3890 0.0595 Uncertain 2_160132196_-->C 2 160132196 160132196 - C indel 517.73 0/1 99 45 20 25 0.56 intronic rs35620648 WDSUB1 AU NM_001128212 exon8 c.39606+47insC 0.627995 0.377 0.7828 0.3975 Uncertain 2_160136337_G->A 2 160136337 160136337 G A snp 1856.77 1/1 99 73 0 73 1.0 exonic rs174264 WDSUB1 AU nonsynonymous SNV NM_001128212 exon3 c.C518T p.P173L 0.9998 1 0.999923 0.9999 1 1 T 0.080 P -0.939 T 0.0 T 0.0 T Pathogenic 2_160176943_A->C 2 160176943 160176943 A C snp 1265.77 1/1 90 45 0 45 1.0 intronic rs174229 BAZ2B AU NM_013450 exon1 c.154+14A>C 0.944089 1 0.950822 0.9848 1 Uncertain 2_160182074_T->A 2 160182074 160182074 T A snp 86.78 0/1 24 4 1 3 0.75 intronic rs440241 BAZ2B AU NM_013450 exon3 c.5388-89T>A 0.757188 0.9494 Uncertain 2_160182302_C->T 2 160182302 160182302 C T snp 959.77 0/1 99 85 42 43 0.51 exonic rs415793 BAZ2B AU nonsynonymous SNV NM_001289975 exon34 c.G5963A p.S1988N 0.250599 0.2321 0.239035 0.2304 0.1982 0.33 T 0.953 P -0.956 T 0.763 T 0.229 P Pathogenic 2_160203934_A->C 2 160203934 160203934 A C snp 1317.77 ./1 99 39 0 39 1.0 intronic rs965163 BAZ2B AU NM_013450 exon7 c.27221-62A>C 0.54972 0.747 Uncertain 2_160203934_A->T 2 160203934 160203934 A T snp 1317.77 ./1 99 39 0 39 1.0 intronic rs965163 BAZ2B AU NM_013450 exon7 c.27221-62A>T 0.422324 0.252 Uncertain 2_160231108_A->G 2 160231108 160231108 A G snp 397.77 0/1 99 31 15 16 0.52 intronic rs6742788 BAZ2B AU NM_013450 exon12 c.54426-93A>G 0.578874 0.6766 Uncertain 2_160231317_A->G 2 160231317 160231317 A G snp 274.77 0/1 99 22 10 12 0.55 intronic rs73967854 BAZ2B AU NM_013450 exon12 c.54489+53A>G 0.175319 0.1042 0.149869 Uncertain 2_160231357_G->A 2 160231357 160231357 G A snp 46.84 0/1 18 3 1 2 0.67 intronic rs77906701 BAZ2B AU NM_013450 exon12 c.54489+93G>A 0.0567093 0.0813 Uncertain 2_160241936_A->G 2 160241936 160241936 A G snp 121.77 0/1 99 9 4 5 0.56 intronic rs1469015 BAZ2B AU NM_013450 exon15 c.65105+56A>G 0.547724 0.6885 Uncertain 2_160243183_T->A 2 160243183 160243183 T A snp 342.77 0/1 99 23 9 14 0.61 intronic rs918351 BAZ2B AU NM_013450 exon16 c.66343+65T>A 0.662939 0.7054 Uncertain 2_160243184_A->T 2 160243184 160243184 A T snp 381.77 0/1 99 21 7 14 0.67 intronic rs918350 BAZ2B AU NM_013450 exon16 c.66343+66A>T 0.662939 0.7054 Uncertain 2_160253669_A->G 2 160253669 160253669 A G snp 484.77 0/1 99 34 17 17 0.5 intronic rs3815687 BAZ2B AU NM_013450 exon19 c.77080-186A>G 0.033746 0.0813 Uncertain 2_160261721_T->C 2 160261721 160261721 T C snp 71.77 0/1 99 8 5 3 0.38 intronic rs35567166 BAZ2B AU NM_013450 exon23 c.84850+96T>C 0.307508 0.3323 Uncertain 2_160261730_C->- 2 160261730 160261730 C - indel 186.87 1/1 15 5 0 5 1.0 intronic rs74694096 BAZ2B AU NM_013450 exon23 c.84850+105delC 0.911941 0.998 Uncertain 2_160285575_C->T 2 160285575 160285575 C T snp 372.77 0/1 99 26 9 17 0.65 intronic rs12473781 BAZ2B AU NM_013450 exon27 c.108935-135C>T 0.333666 0.3938 Uncertain 2_160285660_T->A 2 160285660 160285660 T A snp 552.77 0/1 99 70 41 29 0.41 intronic rs10754963 BAZ2B AU NM_013450 exon27 c.108935-50T>A 0.333466 0.3938 0.409725 0.3940 0.3834 Uncertain 2_160289911_A->G 2 160289911 160289911 A G snp 1109.77 0/1 99 74 35 39 0.53 intronic rs10187471 BAZ2B AU NM_013450 exon29 c.113099+37A>G 0.144768 0.1121 0.134805 0.1338 0.1137 Uncertain 2_160294779_T->C 2 160294779 160294779 T C snp 355.77 0/1 99 33 21 12 0.36 intronic rs3213791 BAZ2B AU NM_013450 exon30 c.118038-34T>C 0.147564 0.1121 0.137019 0.2008 0.1723 Uncertain 2_160294842_A->G 2 160294842 160294842 A G snp 998.77 0/1 99 86 51 35 0.41 exonic rs3213790 BAZ2B AU nonsynonymous SNV NM_001289975 exon8 c.T1259C p.L420S 0.144768 0.1121 0.135255 0.1357 0.1142 0.56 T 0.0 P -1.104 T 0.012 T 0.0 T Pathogenic 2_160295297_C->A 2 160295297 160295297 C A snp 76.77 0/1 99 12 7 5 0.42 intronic rs2302923 BAZ2B AU NM_013450 exon30 c.118431+91C>A 0.413139 0.4058 Uncertain 2_160304741_A->T 2 160304741 160304741 A T snp 499.77 0/1 99 51 30 21 0.41 intronic rs12470533 BAZ2B AU NM_013450 exon33 c.127977-11A>T 0.343051 0.3938 0.418743 0.3811 0.3855 Uncertain 2_160585740_C->A 2 160585740 160585740 C A snp 79.77 0/1 99 9 5 4 0.44 intronic rs3821299 MARCH7 AU NM_001282806 exon2 c.153+54C>A 0.351837 0.3373 Uncertain 2_160599448_AAAA->- 2 160599448 160599451 AAAA - indel 302.73 0/1 99 11 5 6 0.55 intronic rs397986448 MARCH7 AU NM_001282806 exon3 c.14038-123_14038-120delAAAA 0.352436 0.3373 Uncertain 2_160604812_C->T 2 160604812 160604812 C T snp 2293.77 0/1 99 179 86 93 0.52 exonic rs1427329 MARCH7 AU synonymous SNV NM_001282806 exon4 c.C843T p.P281P 0.353035 0.3373 0.355605 0.3553 0.3430 Uncertain 2_160605268_T->C 2 160605268 160605268 T C snp 1102.77 0/1 99 109 67 42 0.39 exonic rs1365803 MARCH7 AU synonymous SNV NM_001282806 exon4 c.T1299C p.P433P 0.891573 0.7282 0.928264 0.9124 0.7316 Uncertain 2_160623590_G->A 2 160623590 160623590 G A snp 152.77 0/1 99 10 5 5 0.5 intronic rs12617546 MARCH7 AU NM_001282806 exon8 c.38261-204G>A 0.352037 0.3373 Uncertain 2_160637324_A->G 2 160637324 160637324 A G snp 1621.77 0/1 99 137 65 72 0.53 intronic rs2303551 CD302 AU NM_001198763 exon3 c.9031-68A>G 0.901757 0.7748 Uncertain 2_160639970_T->C 2 160639970 160639970 T C snp 869.77 0/1 99 54 16 38 0.7 exonic rs2114626 CD302 AU synonymous SNV NM_001198763 exon2 c.A78G p.S26S 0.352236 0.3373 0.352145 0.3517 0.3433 Uncertain 2_160654524_G->T 2 160654524 160654524 G T snp 417.77 0/1 99 31 11 20 0.65 intronic rs2556106 CD302 AU NM_001198763 exon5 c.26281-118G>T 0.744609 0.6409 Uncertain 2_160663678_T->C 2 160663678 160663678 T C snp 536.77 0/1 99 51 28 23 0.45 intronic rs7566887 LY75 AU NM_002349 exon2 c.2097+27T>C 0.605631 0.3948 0.692911 0.6949 0.3886 Uncertain 2_160676427_C->A 2 160676427 160676427 C A snp 1111.77 0/1 99 107 60 47 0.44 exonic rs12692566 LY75 AU nonsynonymous SNV NM_001198759 exon29 c.G3963T p.K1321N 0.845447 0.9058 0.848692 0.8241 0.8991 1 T 0.000 P -0.999 T 0.0 T 0.002 T Pathogenic 2_160676445_-->T 2 160676445 160676445 - T indel 877.73 0/1 99 85 46 39 0.46 intronic rs36120198 LY75 AU NM_002349 exon7 c.14877+14insT 0.720847 0.8978 0.7151 0.8900 Uncertain 2_160691978_G->A 2 160691978 160691978 G A snp 1490.77 0/1 99 123 63 60 0.49 intronic rs2303548 LY75 AU NM_002349 exon10 c.30436-12G>A 0.138379 0.2718 0.123174 0.1876 0.2787 Uncertain 2_160698698_C->A 2 160698698 160698698 C A snp 244.77 0/1 99 25 16 9 0.36 intronic rs2556101 LY75 AU NM_002349 exon12 c.37201-57C>A 0.0946486 0.1339 Uncertain 2_160698700_A->C 2 160698700 160698700 A C snp 462.77 0/1 99 25 9 16 0.64 intronic rs41265133 LY75 AU NM_002349 exon12 c.37201-55A>C 0.552516 0.4415 Uncertain 2_160707075_C->T 2 160707075 160707075 C T snp 763.77 0/1 99 53 26 27 0.51 intronic rs41264207 LY75 AU NM_002349 exon14 c.45424+97C>T 0.0986422 0.2619 Uncertain 2_160708609_C->T 2 160708609 160708609 C T snp 338.77 0/1 84 17 4 13 0.76 intronic rs2162499 LY75 AU NM_002349 exon15 c.47157-102C>T 0.0974441 0.2619 Uncertain 2_160708645_C->G 2 160708645 160708645 C G snp 586.77 0/1 77 29 6 23 0.79 intronic rs2162500 LY75 AU NM_002349 exon15 c.47157-66C>G 0.289936 0.2907 Uncertain 2_160710922_T->C 2 160710922 160710922 T C snp 782.77 0/1 99 66 33 33 0.5 exonic rs2729705 LY75 AU synonymous SNV NM_001198759 exon18 c.A2544G p.A848A 0.522364 0.4583 0.615562 0.5289 0.4316 Uncertain 2_160711045_G->C 2 160711045 160711045 G C snp 431.77 0/1 99 65 42 23 0.35 exonic rs3951216 LY75 AU nonsynonymous SNV NM_001198759 exon18 c.C2421G p.D807E 0.565895 0.7093 0.421575 0.5067 0.7374 1 T 0.001 P -0.991 T 0.002 T 0.004 T Pathogenic 2_160711248_T->C 2 160711248 160711248 T C snp 214.84 1/1 18 7 0 7 1.0 intronic rs975491 LY75 AU NM_002349 exon19 c.49860-166T>C 0.870807 1 Uncertain 2_160711556_T->G 2 160711556 160711556 T G snp 5052.77 1/1 99 172 0 172 1.0 intronic rs975490 LY75 AU NM_002349 exon19 c.49896+106T>G 0.870208 1 Uncertain 2_160728842_T->C 2 160728842 160728842 T C snp 148.77 0/1 99 10 5 5 0.5 intronic rs2884241 LY75 AU NM_002349 exon23 c.67407-119T>C 0.0978435 0.2629 Uncertain 2_160729005_C->T 2 160729005 160729005 C T snp 2028.77 0/1 99 198 105 93 0.47 exonic rs1397706 LY75 AU nonsynonymous SNV NM_001198759 exon13 c.G2074A p.D692N 0.0980431 0.2629 0.057589 0.0915 0.2273 0.04 T 0.000 P -0.914 T 0.005 T 0.022 T Pathogenic 2_160729134_A->C 2 160729134 160729134 A C snp 2678.77 1/1 99 88 0 88 1.0 intronic rs1397705 LY75 AU NM_002349 exon23 c.67550+30A>C 0.870807 1 0.855759 0.9356 1 Uncertain 2_160729186_T->C 2 160729186 160729186 T C snp 244.77 0/1 99 24 16 8 0.33 intronic rs10168271 LY75 AU NM_002349 exon23 c.67550+82T>C 0.503195 0.7133 Uncertain 2_160737495_A->C 2 160737495 160737495 A C snp 675.77 1/1 51 18 0 18 1.0 intronic rs2729712 LY75 AU NM_002349 exon28 c.76039-98A>C 0.869209 1 Uncertain 2_160737560_G->T 2 160737560 160737560 G T snp 2673.77 1/1 99 90 0 90 1.0 intronic rs2729711 LY75 AU NM_002349 exon28 c.76039-33G>T 0.832668 1 0.819391 0.9232 1 Uncertain 2_160737663_T->A 2 160737663 160737663 T A snp 2043.77 0/1 99 167 74 93 0.56 exonic rs2666989 LY75 AU synonymous SNV NM_001198759 exon8 c.A1335T p.T445T 0.0597045 0.1994 0.003229 0.0266 0.2009 ID=COSM148969;OCCURENCE=1(stomach) Uncertain 2_160738509_A->G 2 160738509 160738509 A G snp 71.77 0/1 99 7 4 3 0.43 intronic rs66496937 LY75 AU NM_002349 exon29 c.77080-125A>G 0.248602 0.2907 Uncertain 2_160742771_A->G 2 160742771 160742771 A G snp 325.78 1/1 27 10 0 10 1.0 intronic rs2666986 LY75 AU NM_002349 exon31 c.81376-159A>G 0.364816 0.4028 Uncertain 2_160761082_T->G 2 160761082 160761082 T G snp 2201.77 1/1 99 92 0 92 1.0 intronic rs6760195 LY75 AU NM_002349 exon35 c.99545-17T>G 0.376797 0.5188 0.211342 0.3705 0.5370 Uncertain 2_160761136_A->G 2 160761136 160761136 A G snp 2666.77 1/1 99 104 0 104 1.0 exonic rs35284483 LY75 AU nonsynonymous SNV NM_001198759 exon1 c.T58C p.W20R 0.0876597 0.1994 0.012993 0.0834 0.2591 0.36 T 0.0 P -1.005 T 0.0 T 0.0 T Pathogenic 2_160804116_A->G 2 160804116 160804116 A G snp 759.77 1/1 54 29 0 29 1.0 intronic rs3736448 PLA2R1 AU NM_007366 exon5 c.5782+46A>G 0.0189696 0.0942 0.000155 0.0073 0.0973 ID=COSN166308;OCCURENCE=1(NS) Uncertain 2_160805993_C->G 2 160805993 160805993 C G snp 839.77 1/1 66 25 0 25 1.0 intronic rs6726923 PLA2R1 AU NM_007366 exon6 c.7830-125C>G 0.977636 1 Uncertain 2_160807742_A->T 2 160807742 160807742 A T snp 764.77 1/1 57 22 0 22 1.0 intronic rs952184 PLA2R1 AU NM_007366 exon7 c.9562-108A>T 0.819289 1 Uncertain 2_160807780_G->A 2 160807780 160807780 G A snp 671.77 0/1 99 43 15 28 0.65 intronic rs144424203 PLA2R1 AU NM_007366 exon7 c.9562-70G>A 0.00678914 0.0337 Uncertain 2_160833188_A->G 2 160833188 160833188 A G snp 2199.77 1/1 99 79 1 78 0.99 intronic rs2715918 PLA2R1 AU NM_007366 exon15 c.34907-7A>G 0.819888 0.8611 0.849070 0.8154 0.8633 Uncertain 2_160862094_G->A 2 160862094 160862094 G A snp 254.8 1/1 21 8 0 8 1.0 intronic rs2667004 PLA2R1 AU NM_007366 exon20 c.63874-68G>A 0.457867 0.5833 Uncertain 2_160872985_G->C 2 160872985 160872985 G C snp 1004.77 1/1 78 28 0 28 1.0 intronic rs78021622 PLA2R1 AU NM_007366 exon22 c.74836-139G>C 0.110623 0.1845 Uncertain 2_160872991_T->G 2 160872991 160872991 T G snp 1178.77 1/1 90 33 0 33 1.0 intronic rs34555459 PLA2R1 AU NM_007366 exon22 c.74836-133T>G 0.307708 0.3909 Uncertain 2_160873006_-->GG 2 160873006 160873006 - GG indel 2868.73 1/1 99 58 0 58 1.0 intronic rs72290861 PLA2R1 AU NM_007366 exon22 c.74836-118insGG 0.110423 0.1835 Uncertain 2_160873021_G->A 2 160873021 160873021 G A snp 2448.77 1/1 99 85 0 85 1.0 intronic rs2715939 PLA2R1 AU NM_007366 exon22 c.74836-103G>A 0.702476 0.8552 Uncertain 2_160873270_A->G 2 160873270 160873270 A G snp 2014.77 1/1 99 60 0 60 1.0 intronic rs2667040 PLA2R1 AU NM_007366 exon22 c.74935+47A>G 0.702676 0.8552 0.715011 0.7466 0.8664 Uncertain 2_160873294_-->A 2 160873294 160873294 - A indel 673.73 1/1 69 32 0 32 1.0 intronic rs3833577 PLA2R1 AU NM_007366 exon22 c.74935+71insA 0.593051 0.7054 Uncertain 2_160876827_A->G 2 160876827 160876827 A G snp 436.77 1/1 33 14 0 14 1.0 intronic rs1511213 PLA2R1 AU NM_007366 exon23 c.78486+53A>G 0.702476 0.8552 Uncertain 2_160918984_T->A 2 160918984 160918984 T A snp 37.77 0/1 66 12 9 3 0.25 UTR5 rs925409 PLA2R1 AU 0.204073 0.2986 Uncertain 2_160919020_C->T 2 160919020 160919020 C T snp 164.78 0/1 27 8 2 6 0.75 UTR5 rs3749119 PLA2R1 AU 0.194688 0.3294 Uncertain 2_160958350_AA->- 2 160958350 160958351 AA - indel 1479.73 1/1 99 46 0 46 1.0 splicing rs201103445 ITGB6 AR NM_001282390 exon1 c.99+5_99+6delAA 0.4565 0.5391 Pathogenic 2_160983167_A->G 2 160983167 160983167 A G snp 122.03 1/1 12 4 0 4 1.0 intronic rs10179610 ITGB6 AR NM_001282390 exon5 c.24866+55A>G 0.096845 0.2371 Uncertain 2_160994348_C->T 2 160994348 160994348 C T snp 4540.77 1/1 99 157 0 157 1.0 exonic rs1156821 ITGB6 AR synonymous SNV NM_000888 exon10 c.G1257A p.V419V 0.0710863 0.2331 0.000692 0.0311 0.2631 Uncertain 2_160994764_A->G 2 160994764 160994764 A G snp 1947.77 1/1 99 59 0 59 1.0 intronic rs76007773 ITGB6 AR NM_001282390 exon7 c.36464+54A>G 0.191494 0.2728 Uncertain 2_160994845_A->G 2 160994845 160994845 A G snp 159.28 0/1 9 6 1 5 0.83 intronic rs4473342 ITGB6 AR NM_001282390 exon7 c.36464+135A>G 0.191893 0.2728 Uncertain 2_160998792_A->C 2 160998792 160998792 A C snp 291.78 1/1 24 10 0 10 1.0 intronic rs3755547 ITGB6 AR NM_001282390 exon8 c.40336+210A>C 0.184305 0.2728 Uncertain 2_161028992_T->C 2 161028992 161028992 T C snp 889.77 1/1 30 27 1 26 0.96 intronic rs1037694 ITGB6 AR NM_001282390 exon10 c.70833-87T>C 0.609026 0.7619 Uncertain 2_161051853_A->G 2 161051853 161051853 A G snp 4231.77 1/1 99 148 0 148 1.0 intronic rs2124971 ITGB6 AR NM_001282390 exon12 c.93633-26A>G 0.228035 0.4296 0.120483 0.1102 0.4762 Uncertain 2_161135000_G->C 2 161135000 161135000 G C snp 174.9 1/1 15 5 0 5 1.0 intronic rs1870106 RBMS1 AU NM_002897 exon4 c.2911-58G>C 0.252796 0.5317 Uncertain 2_161169828_C->G 2 161169828 161169828 C G snp 2093.77 1/1 99 75 0 75 1.0 intronic rs10929977 RBMS1 AU NM_002897 exon11 c.37611+70C>G 0.261781 0.5317 Uncertain 2_161174693_C->T 2 161174693 161174693 C T snp 672.77 1/1 48 27 0 27 1.0 exonic rs1430 RBMS1 AU synonymous SNV NM_002897 exon3 c.G297A p.T99T 0.261182 0.5308 0.242771 0.2824 0.5574 Uncertain 2_162059817_G->A 2 162059817 162059817 G A snp 175.9 1/1 15 5 0 5 1.0 intronic rs1267075 TANK AU NM_004180 exon3 c.23824-180G>A 0.841853 0.999 Uncertain 2_162059969_A->T 2 162059969 162059969 A T snp 1547.77 0/1 99 140 69 71 0.51 intronic rs11884495 TANK AU NM_004180 exon3 c.23824-28A>T 0.417133 0.4177 0.422882 0.4743 0.4441 Uncertain 2_162091836_T->C 2 162091836 162091836 T C snp 640.77 0/1 99 48 23 25 0.52 ncRNA_intronic rs3754970 LOC101929512 AU 0.417532 0.4157 0.427726 0.4800 0.4458 Uncertain 2_162175290_T->C 2 162175290 162175290 T C snp 3514.77 1/1 99 124 0 124 1.0 intronic rs1116165 PSMD14 AU 0.998802 0.999 1.0000 1 Uncertain 2_162224193_-->T 2 162224193 162224193 - T indel 4197.73 1/1 99 126 0 126 1.0 intronic rs397731806 PSMD14 AU NM_005805 exon5 c.48958-101insT 0.917931 0.9762 Uncertain 2_162242226_C->T 2 162242226 162242226 C T snp 54.74 1/1 6 2 0 2 1.0 intronic rs10193429 PSMD14 AU NM_005805 exon8 c.66746+144C>T 0.934505 1 Uncertain 2_162247772_C->T 2 162247772 162247772 C T snp 965.77 1/1 69 33 0 33 1.0 intronic rs1921674 PSMD14 AU NM_005805 exon9 c.72353+83C>T 0.857029 0.8393 Uncertain 2_162280748_G->A 2 162280748 162280748 G A snp 2417.77 1/1 99 86 0 86 1.0 UTR3 rs890076 TBR1 AU 0.758586 0.8393 0.786457 0.8231 0.8467 Uncertain 2_162730312_T->C 2 162730312 162730312 T C snp 339.78 1/1 27 9 0 9 1.0 intronic rs35292746 SLC4A10 AU NM_001178015 exon8 c.249397-113T>C 0.578674 0.8393 Uncertain 2_162757676_A->G 2 162757676 162757676 A G snp 311.78 1/1 24 9 0 9 1.0 intronic rs6754546 SLC4A10 AU NM_022058 exon11 c.276493+155A>G 0.548123 0.8393 Uncertain 2_162813807_A->G 2 162813807 162813807 A G snp 811.77 1/1 60 24 0 24 1.0 intronic rs10221808 SLC4A10 AU NM_022058 exon19 c.332722+57A>G 0.334465 0.6022 Uncertain 2_162865124_G->A 2 162865124 162865124 G A snp 1792.77 0/1 99 172 87 85 0.49 exonic rs17848910 DPP4 AU synonymous SNV NM_001935 exon22 c.C1935T p.G645G 0.00838658 0.0288 0.000538 0.0076 0.0373 Uncertain 2_162873188_T->C 2 162873188 162873188 T C snp 419.77 1/1 33 11 0 11 1.0 intronic rs2970931 DPP4 AU NM_001935 exon9 c.23485-89T>C 0.688698 0.745 Uncertain 2_162876828_C->T 2 162876828 162876828 C T snp 134.77 0/1 57 22 11 11 0.5 intronic rs61406317 DPP4 AU NM_001935 exon13 c.27014+22C>T 0.0510 0.0284 Uncertain 2_162876829_A->- 2 162876829 162876829 A - indel 167.73 0/1 62 21 7 14 0.67 intronic rs35175377 DPP4 AU NM_001935 exon13 c.27014+23delA 0.589058 0.87 0.4320 0.5609 Uncertain 2_162877028_T->A 2 162877028 162877028 T A snp 46.74 1/1 6 2 0 2 1.0 intronic rs12692646 DPP4 AU NM_001935 exon14 c.27298-62T>A 0.359425 0.6339 Uncertain 2_162879452_T->C 2 162879452 162879452 T C snp 1499.77 1/1 99 47 0 47 1.0 intronic rs2302873 DPP4 AU NM_001935 exon15 c.29517+143T>C 0.363419 0.6438 Uncertain 2_162890175_T->C 2 162890175 162890175 T C snp 1270.77 1/1 93 46 0 46 1.0 intronic rs1558957 DPP4 AU NM_001935 exon17 c.40371+12T>C 0.798323 0.9891 0.709672 0.6765 0.9920 Uncertain 2_162890196_-->A 2 162890196 162890196 - A indel 304.5 1/1 3 29 2 27 0.93 intronic rs11437441 DPP4 AU NM_001935 exon17 c.40371+33insA 0.31869 0.501 0.3209 0.4683 Uncertain 2_162890217_G->A 2 162890217 162890217 G A snp 469.77 1/1 36 15 0 15 1.0 intronic rs7608798 DPP4 AU NM_001935 exon17 c.40371+54G>A 0.389976 0.6438 Uncertain 2_162891848_C->T 2 162891848 162891848 C T snp 2407.77 1/1 99 85 0 85 1.0 intronic rs6432708 DPP4 AU NM_001935 exon18 c.42042+14C>T 0.799121 0.9891 0.710595 0.6726 0.9920 Uncertain 2_162891962_C->T 2 162891962 162891962 C T snp 54.74 1/1 6 2 0 2 1.0 intronic rs17848920 DPP4 AU NM_001935 exon18 c.42042+128C>T 0.00519169 0.0208 Uncertain 2_162894766_A->G 2 162894766 162894766 A G snp 396.77 1/1 30 13 0 13 1.0 intronic rs10930040 DPP4 AU NM_001935 exon19 c.45019-45A>G 0.36881 0.6448 0.312500 0.3599 0.6595 Uncertain 2_162930287_GCCAGGGTCCTAGCAGAA->- 2 162930287 162930304 GCCAGGGTCCTAGCAGAA - indel 8946.73 0/1 99 81 32 49 0.6 intronic rs3216773 DPP4 AU NM_001935 exon26 c.80693-198_80693-181delGCCAGGGTCCTAGCAGAA 0.273562 0.2887 Uncertain 2_163005674_G->A 2 163005674 163005674 G A snp 5188.77 1/1 99 200 2 198 0.99 exonic rs5645 GCG AU synonymous SNV NM_002054 exon2 c.C15T p.Y5Y 0.0964457 0.2073 0.020585 0.0720 0.2192 Uncertain 2_163051415_C->T 2 163051415 163051415 C T snp 375.77 1/1 30 11 0 11 1.0 intronic rs1468916 FAP AU NM_004460 exon10 c.23770+157C>T 0.996605 1 Uncertain 2_163054614_G->A 2 163054614 163054614 G A snp 398.77 0/1 99 30 16 14 0.47 intronic rs78179457 FAP AU NM_004460 exon11 c.27778-652G>A 0.0271565 0.119 Uncertain 2_163054724_C->T 2 163054724 163054724 C T snp 2182.77 0/1 99 184 90 94 0.51 intronic rs4664452 FAP AU NM_004460 exon11 c.27778-542C>T 0.171526 0.13 Uncertain 2_163056952_A->C 2 163056952 163056952 A C snp 106.77 0/1 99 8 3 5 0.63 intronic rs13386912 FAP AU NM_004460 exon12 c.29587-123A>C 0.179712 0.1329 Uncertain 2_163070596_T->A 2 163070596 163070596 T A snp 864.77 0/1 99 73 43 30 0.41 intronic rs6735909 FAP AU NM_004460 exon16 c.43095+13T>A 0.0712859 0.13 0.010764 0.0551 0.1370 Uncertain 2_163078195_T->A 2 163078195 163078195 T A snp 2277.77 0/1 99 175 79 96 0.55 intronic rs16846389 FAP AU NM_004460 exon20 c.48947+1760T>A 0.0714856 0.13 0.0201 0.1667 Uncertain 2_163080793_A->G 2 163080793 163080793 A G snp 189.77 0/1 99 11 4 7 0.64 intronic rs3827491 FAP AU NM_004460 exon22 c.53487-182A>G 0.180511 0.13 Uncertain 2_163080982_A->G 2 163080982 163080982 A G snp 385.77 0/1 99 48 30 18 0.38 exonic rs16846391 FAP AU synonymous SNV NM_004460 exon5 c.T354C p.Y118Y 0.0716853 0.13 0.010696 0.0549 0.1372 Uncertain 2_163083150_T->C 2 163083150 163083150 T C snp 388.77 0/1 99 27 11 16 0.59 intronic rs16846396 FAP AU NM_004460 exon24 c.55643+19T>C 0.072484 0.13 0.012246 0.0594 0.1427 Uncertain 2_163124154_C->A 2 163124154 163124154 C A snp 376.77 0/1 99 32 20 12 0.38 intronic rs3761652 IFIH1 AD NM_022168 exon2 c.370+75C>A 0.0704872 0.124 Uncertain 2_163128725_A->G 2 163128725 163128725 A G snp 657.77 0/1 99 36 13 23 0.64 intronic rs3747518 IFIH1 AD NM_022168 exon4 c.5026-10A>G 0.194289 0.125 0.148854 0.1180 0.1677 Uncertain 2_163128824_T->C 2 163128824 163128824 T C snp 1683.77 0/1 99 112 45 67 0.6 exonic rs3747517 IFIH1 AD nonsynonymous SNV NM_022168 exon13 c.A2528G p.H843R 0.589856 0.3135 0.691604 0.6762 0.3116 1 T 0.001 P -0.966 T 0.0 T 0.0 T ID=CM065280;DIS=Colorectal cancer, increased risk, association with;TAG=DP;PUB=17000706 DP Pathogenic 2_163136727_G->C 2 163136727 163136727 G C snp 81.77 0/1 30 4 1 3 0.75 intronic rs2287293 IFIH1 AD NM_022168 exon9 c.12913+105G>C 0.160543 0.125 Uncertain 2_163137748_C->T 2 163137748 163137748 C T snp 105.77 0/1 99 11 7 4 0.36 intronic rs16846555 IFIH1 AD NM_022168 exon10 c.14128-89C>T 0.0706869 0.125 Uncertain 2_163137871_C->G 2 163137871 163137871 C G snp 1717.77 0/1 99 171 98 73 0.43 exonic rs12479043 IFIH1 AD synonymous SNV NM_022168 exon7 c.G1491C p.T497T 0.160543 0.125 0.116023 0.0841 0.1348 Uncertain 2_163137983_T->C 2 163137983 163137983 T C snp 1254.77 0/1 99 116 62 54 0.47 exonic rs10930046 IFIH1 AD nonsynonymous SNV NM_022168 exon7 c.A1379G p.H460R 0.19369 0.125 0.149954 0.0933 0.1355 1 T 0.434 P -0.967 T 0.0 T 0.0 T Pathogenic 2_163138851_-->A 2 163138851 163138851 - A indel 242.73 0/1 99 24 13 11 0.46 intronic rs139992539 IFIH1 AD NM_022168 exon11 c.15166-24insA 0.116414 0.125 0.066128 0.0809 0.1680 Uncertain 2_163694878_C->G 2 163694878 163694878 C G snp 324.77 0/1 99 31 18 13 0.42 intronic rs4667768 KCNH7 AU NM_173162 exon8 c.415173-74C>G 0.606829 0.6042 Uncertain 2_163694886_G->A 2 163694886 163694886 G A snp 368.77 0/1 99 36 21 15 0.42 intronic rs4667769 KCNH7 AU NM_173162 exon8 c.415173-66G>A 0.439097 0.4325 Uncertain 2_164468360_A->G 2 164468360 164468360 A G snp 388.77 1/1 30 11 0 11 1.0 intronic rs2231899 FIGN AU NM_018086 exon1 c.2255+44A>G 0.345447 0.4405 0.259551 0.2647 0.4460 Uncertain 2_165349429_C->- 2 165349429 165349429 C - indel 159.73 0/1 99 10 5 5 0.5 UTR3 rs200548185 GRB14 AU Uncertain 2_165561765_A->G 2 165561765 165561765 A G snp 224.77 0/1 99 16 7 9 0.56 intronic rs6738916 COBLL1 AU NM_014900 exon8 c.19160+150A>G 0.13778 0.0962 Uncertain 2_165578581_A->G 2 165578581 165578581 A G snp 3906.77 1/1 99 139 0 139 1.0 splicing rs6414069 COBLL1 AU NM_014900 exon9 c.36129-3A>G 0.599241 0.3988 0.667846 0.5770 0.3914 Pathogenic 2_165579065_T->G 2 165579065 165579065 T G snp 183.77 0/1 99 16 8 8 0.5 intronic rs10167778 COBLL1 AU NM_014900 exon10 c.36577+33T>G 0.17492 0.1052 0.205869 0.1517 0.1157 Uncertain 2_165584407_C->T 2 165584407 165584407 C T snp 517.77 1/1 39 15 0 15 1.0 intronic rs12692743 COBLL1 AU NM_014900 exon11 c.42023-71C>T 0.599042 0.3988 Uncertain 2_165586466_T->C 2 165586466 165586466 T C snp 515.77 0/1 99 54 29 25 0.46 exonic rs13392281 COBLL1 AU synonymous SNV NM_014900 exon3 c.A390G p.P130P 0.172524 0.1052 0.202707 0.1454 0.1132 1.000 P -0.980 T Likely benign 2_165586549_A->G 2 165586549 165586549 A G snp 989.77 0/1 99 114 69 45 0.39 exonic COBLL1 AU synonymous SNV NM_014900 exon3 c.T307C p.L103L 1 D -0.994 T Likely benign 2_165586652_C->T 2 165586652 165586652 C T snp 578.77 0/1 99 58 35 23 0.4 intronic rs13432439 COBLL1 AU NM_014900 exon12 c.44170+27C>T 0.172125 0.1052 0.202368 0.1522 0.1187 Uncertain 2_165586705_T->G 2 165586705 165586705 T G snp 207.77 0/1 99 20 13 7 0.35 intronic rs13395130 COBLL1 AU NM_014900 exon12 c.44170+80T>G 0.172125 0.1052 Uncertain 2_165630460_T->C 2 165630460 165630460 T C snp 338.78 1/1 27 9 0 9 1.0 intronic rs355865 COBLL1 AU NM_001278458 exon15 c.114588-26583T>C 0.664537 0.5169 Uncertain 2_165636332_T->C 2 165636332 165636332 T C snp 801.77 0/1 99 94 52 42 0.45 intronic rs355897 COBLL1 AU NM_001278458 exon15 c.114588-20711T>C 0.553115 0.4673 Uncertain 2_165657185_G->A 2 165657185 165657185 G A snp 32.77 0/1 61 10 7 3 0.3 intronic rs355915 COBLL1 AU NM_001278458 exon15 c.114609+121G>A 0.310104 0.3373 Uncertain 2_165698715_-->G 2 165698715 165698715 - G indel 694.73 1/1 54 18 0 18 1.0 ncRNA_intronic rs397986538 LOC101929633 AU 1 1 Uncertain 2_165801359_C->T 2 165801359 165801359 C T snp 88.77 0/1 30 5 1 4 0.8 intronic rs10930141 SLC38A11 AU NM_001199148 exon8 c.46198+215C>T 0.445487 0.623 Uncertain 2_165809426_T->C 2 165809426 165809426 T C snp 545.77 0/1 99 48 26 22 0.46 intronic rs17353791 SLC38A11 AU NM_173512 exon9 c.54345+135T>C 0.192492 0.3155 Uncertain 2_165811555_AA->- 2 165811555 165811556 AA - indel 704.73 ./1 99 32 1 31 0.97 intronic rs533780869 SLC38A11 AU NM_173512 exon10 c.56772-163_56772-162delAA Uncertain 2_165811555_A->- 2 165811555 165811555 A - indel 704.73 ./1 99 32 1 31 0.97 intronic rs11350253 SLC38A11 AU NM_173512 exon10 c.56772-163delA Uncertain 2_165953582_T->C 2 165953582 165953582 T C snp 70.77 0/1 99 7 4 3 0.43 intronic rs1439993 SCN3A AU NM_006922 exon6 c.7102-179T>C 0.183107 0.2599 Uncertain 2_165987772_T->G 2 165987772 165987772 T G snp 1356.77 0/1 99 116 62 54 0.47 exonic rs62174900 SCN3A AU synonymous SNV NM_006922 exon16 c.A2547C p.V849V 0.181709 0.2728 0.162925 0.2018 0.2693 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000153905.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 2_165988022_C->A 2 165988022 165988022 C A snp 118.77 0/1 99 11 5 6 0.55 intronic rs78280506 SCN3A AU NM_006922 exon13 c.41268+95C>A 0.180911 0.2728 Uncertain 2_165996107_T->A 2 165996107 165996107 T A snp 4216.77 1/1 99 154 0 154 1.0 exonic rs1946892 SCN3A AU synonymous SNV NM_006922 exon14 c.A2031T p.T677T 0.634585 0.8165 0.502922 0.5068 0.7955 Uncertain 2_165996281_A->T 2 165996281 165996281 A T snp 136.03 1/1 12 4 0 4 1.0 intronic rs2289400 SCN3A AU NM_006922 exon15 c.49459+163A>T 0.536342 0.6468 Uncertain 2_166003479_G->A 2 166003479 166003479 G A snp 2822.77 0/1 99 232 111 121 0.52 exonic rs16850131 SCN3A AU synonymous SNV NM_006922 exon12 c.C1441T p.L481L 0.257388 0.3065 0.225281 0.2215 0.3156 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000081470.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 2_166003573_C->T 2 166003573 166003573 C T snp 1030.77 0/1 99 76 37 39 0.51 intronic rs58539679 SCN3A AU NM_006922 exon17 c.56880+34C>T 0.256989 0.3065 0.223547 0.2212 0.3165 Uncertain 2_166012203_C->T 2 166012203 166012203 C T snp 2435.77 1/1 99 75 0 75 1.0 intronic rs3731760 SCN3A AU NM_006922 exon19 c.65612-68C>T 0.732827 0.8502 Uncertain 2_166152185_A->G 2 166152185 166152185 A G snp 170.9 1/1 15 5 0 5 1.0 intronic rs2075704 SCN2A AD 0.763578 0.7391 Uncertain 2_166153499_A->G 2 166153499 166153499 A G snp 350.78 1/1 27 13 0 13 1.0 intronic rs7593568 SCN2A AD NM_021007 exon3 c.1193-27A>G 0.772165 0.7431 0.834802 0.8250 0.8162 Uncertain 2_166167166_T->A 2 166167166 166167166 T A snp 40.77 0/1 69 7 4 3 0.43 intronic rs7560348 SCN2A AD NM_021007 exon7 c.14772+61T>A 0.240216 0.3601 Uncertain 2_166170127_T->C 2 166170127 166170127 T C snp 2893.77 1/1 99 104 0 104 1.0 splicing rs2121371 SCN2A AD NM_021007 exon9 c.17796-2T>C 0.772364 0.7431 0.828694 0.8016 0.7750 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000118252.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 2_166172317_A->G 2 166172317 166172317 A G snp 2506.77 1/1 99 85 0 85 1.0 intronic rs1838846 SCN2A AD NM_021007 exon11 c.19935+49A>G 0.771965 0.7431 0.840595 0.8014 0.7780 Uncertain 2_166179650_C->T 2 166179650 166179650 C T snp 1420.77 0/1 99 130 69 61 0.47 intronic rs1867864 SCN2A AD NM_021007 exon12 c.27332-15C>T 0.502796 0.3433 0.596249 0.5205 0.3601 Uncertain 2_166224047_G->A 2 166224047 166224047 G A snp 359.77 0/1 99 25 14 11 0.44 intronic rs2304010 SCN2A AD NM_021007 exon19 c.71548+166G>A 0.432708 0.5149 Uncertain 2_166226978_A->G 2 166226978 166226978 A G snp 46.78 0/1 27 3 1 2 0.67 intronic rs2304012 SCN2A AD NM_021007 exon20 c.74476+169A>G 0.394569 0.5149 Uncertain 2_166229922_T->C 2 166229922 166229922 T C snp 892.77 1/1 66 29 0 29 1.0 intronic rs6432821 SCN2A AD NM_021007 exon21 c.77524+65T>C 0.986621 1 Uncertain 2_166234076_A->G 2 166234076 166234076 A G snp 234.77 0/1 99 15 7 8 0.53 intronic rs1864885 SCN2A AD NM_021007 exon23 c.81773-30A>G 0.202276 0.3353 0.109700 0.2493 0.3495 Uncertain 2_166514165_C->G 2 166514165 166514165 C G snp 503.77 0/1 99 49 27 22 0.45 intronic rs12620509 CSRNP3 AU NM_001172173 exon5 c.62695-105C>G 0.448682 0.5645 Uncertain 2_166514594_A->G 2 166514594 166514594 A G snp 221.84 1/1 18 7 0 7 1.0 intronic rs10803800 CSRNP3 AU NM_001172173 exon5 c.62955+64A>G 0.670327 0.6994 Uncertain 2_166615555_C->T 2 166615555 166615555 C T snp 99.28 1/1 9 3 0 3 1.0 intronic rs4667835 GALNT3 AR NM_004482 exon6 c.10084+181C>T 0.553514 0.62 Uncertain 2_166621354_T->C 2 166621354 166621354 T C snp 1020.77 1/1 75 33 0 33 1.0 intronic rs2113840 GALNT3 AR NM_004482 exon9 c.16103-39T>C 0.995807 1 0.995156 0.9987 1 Uncertain 2_166626606_G->A 2 166626606 166626606 G A snp 2118.77 1/1 99 66 0 66 1.0 intronic rs4667836 GALNT3 AR NM_004482 exon10 c.21405-89G>A 0.340455 0.3145 0.4418 0.4040 Uncertain 2_166740578_C->T 2 166740578 166740578 C T snp 1354.77 1/1 99 45 0 45 1.0 intronic rs34701755 TTC21B AU,AR NM_024753 exon4 c.9264+50C>T 0.107029 0.1329 0.118747 0.1471 0.1251 Uncertain 2_166788336_T->C 2 166788336 166788336 T C snp 2922.77 1/1 99 105 0 105 1.0 exonic rs7592429 TTC21B AU,AR nonsynonymous SNV NM_024753 exon8 c.A826G p.T276A 0.948083 1 0.945717 0.9853 1 1 T 1.000 P -0.941 T 0.0 T 0.0 T Pathogenic 2_166797450_C->A 2 166797450 166797450 C A snp 345.78 1/1 27 9 0 9 1.0 ncRNA_intronic rs7592392 TTC21B-AS1 AU 0.667332 0.7986 Uncertain 2_166797646_C->T 2 166797646 166797646 C T snp 6158.77 1/1 99 231 0 231 1.0 exonic rs1432273 TTC21B AU,AR nonsynonymous SNV NM_024753 exon6 c.G601A p.V201M 0.667332 0.7986 0.602030 0.6568 0.8029 0.03 T 1.000 P -0.975 T 0.992 D 0.95 D Pathogenic 2_166799596_T->C 2 166799596 166799596 T C snp 380.77 1/1 30 12 0 12 1.0 ncRNA_intronic rs13000534 TTC21B-AS1 AU 0.947484 1 Uncertain 2_166799893_G->A 2 166799893 166799893 G A snp 1300.77 1/1 93 42 0 42 1.0 ncRNA_intronic rs10930190 TTC21B-AS1 AU 0.996406 1 0.995292 0.9986 1 Uncertain 2_166810053_C->T 2 166810053 166810053 C T snp 143.03 1/1 12 5 0 5 1.0 intronic rs6716946 TTC21B AU,AR NM_024753 exon29 c.78930-141C>T 0.997005 1 Uncertain 2_166810161_-->CCCGCTCA 2 166810161 166810161 - CCCGCTCA indel 2950.73 1/1 93 37 0 37 1.0 intronic rs569432248 TTC21B AU,AR NM_024753 exon29 c.78930-33insCCCGCTCA 0.508387 0.3859 0.6829 0.4927 Uncertain 2_166810373_A->G 2 166810373 166810373 A G snp 1495.77 1/1 99 54 0 54 1.0 upstream rs1347041 TTC21B AU,AR 1 1 Uncertain 2_166810434_T->- 2 166810434 166810434 T - indel 371.74 1/1 27 9 0 9 1.0 upstream rs5836068 TTC21B AU,AR 0.997005 1 Uncertain 2_166896178_C->T 2 166896178 166896178 C T snp 409.77 1/1 30 17 0 17 1.0 intronic rs490317 SCN1A AD NM_006920 exon13 c.48352+72C>T 0.15595 0.0933 Uncertain 2_166903188_A->C 2 166903188 166903188 A C snp 3081.77 1/1 99 107 0 107 1.0 intronic rs538921 SCN1A AD NM_006920 exon18 c.55525-91A>C 0.946286 0.9841 Uncertain 2_166930214_T->A 2 166930214 166930214 T A snp 547.77 1/1 42 18 0 18 1.0 upstream rs566839 SCN1A AD 0.985423 1 Uncertain 2_167060449_A->T 2 167060449 167060449 A T snp 823.77 1/1 60 27 0 27 1.0 ncRNA_intronic rs10180721 LOC101929680 AU 0.901358 0.9563 0.886963 0.8850 0.9465 Uncertain 2_167085080_TT->- 2 167085080 167085081 TT - indel 418.74 1/1 27 9 0 9 1.0 ncRNA_intronic rs58595486 LOC101929680 AU 0.801917 0.9375 Uncertain 2_167085124_T->G 2 167085124 167085124 T G snp 1782.77 1/1 99 60 0 60 1.0 ncRNA_intronic rs10199799 LOC101929680 AU 0.890575 0.9563 Uncertain 2_167085142_TT->- 2 167085142 167085143 TT - indel 4748.73 1/1 99 87 0 87 1.0 ncRNA_intronic rs58519838 LOC101929680 AU 0.732029 0.7937 Uncertain 2_167090042_G->A 2 167090042 167090042 G A snp 545.77 1/1 39 23 0 23 1.0 ncRNA_intronic rs722204 LOC101929680 AU 0.760783 0.8065 Uncertain 2_167099158_A->G 2 167099158 167099158 A G snp 4778.77 1/1 99 165 0 165 1.0 exonic rs6746030 SCN9A AR,AD nonsynonymous SNV NM_002977 exon19 c.T3448C p.W1150R 0.887181 0.9593 0.877448 0.8693 0.9543 1 T 0.0 P -0.947 T 0.0 T 0.0 T CLINSIG=non-pathogenic;CLNDBN=Primary_erythromelalgia;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000020514.1;CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:Orphanet:SNOMED_CT;CLNDSDBID=NBK1163:C0014805:133020:ORPHA306577:ORPHA90026:403390002 ID=CM051623;DIS=Erythermalgia, primary;TAG=DFP;PUB=15955112 DFP Pathogenic 2_167129497_A->T 2 167129497 167129497 A T snp 77.77 0/1 30 4 1 3 0.75 ncRNA_intronic rs13395140 LOC101929680 AU 0.345447 0.3085 Uncertain 2_167137119_G->A 2 167137119 167137119 G A snp 848.77 0/1 99 81 44 37 0.46 ncRNA_intronic rs6432893 LOC101929680 AU 0.545727 0.3819 0.561628 0.5274 0.4259 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000153916.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 2_167137120_C->T 2 167137120 167137120 C T snp 951.77 0/1 99 81 37 44 0.54 ncRNA_intronic rs4525717 LOC101929680 AU 0.186901 0.3452 0.116786 0.1928 0.4264 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000153917.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 2_167140838_C->T 2 167140838 167140838 C T snp 37.77 0/1 66 4 2 2 0.5 ncRNA_intronic rs7607896 LOC101929680 AU 0.544529 0.3839 Uncertain 2_167144974_A->T 2 167144974 167144974 A T snp 397.77 0/1 99 33 18 15 0.45 exonic rs6747673 SCN9A AR,AD synonymous SNV NM_002977 exon10 c.T1287A p.R429R 0.546725 0.3839 0.562374 0.4944 0.3871 Uncertain 2_167144995_T->C 2 167144995 167144995 T C snp 589.77 0/1 99 51 30 21 0.41 exonic rs13402180 SCN9A AR,AD synonymous SNV NM_002977 exon10 c.A1266G p.E422E 0.354433 0.3065 0.386567 0.3730 0.3228 Uncertain 2_167145142_A->G 2 167145142 167145142 A G snp 1036.77 0/1 99 91 46 45 0.49 exonic rs13414203 SCN9A AR,AD synonymous SNV NM_002977 exon10 c.T1119C p.A373A 0.354433 0.3065 0.385160 0.3740 0.3228 Uncertain 2_167149693_G->A 2 167149693 167149693 G A snp 2382.77 1/1 99 80 0 80 1.0 ncRNA_intronic rs7588632 LOC101929680 AU 0.741613 0.7272 0.694829 0.6574 0.7362 Uncertain 2_167160735_A->G 2 167160735 167160735 A G snp 2067.77 0/1 99 186 103 83 0.45 intronic rs74449889 SCN9A AR,AD NM_002977 exon22 c.105566-12A>G 0.0499201 0.12 0.004002 0.0405 0.1388 CLINSIG=non-pathogenic;CLNDBN=not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000128005.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Uncertain 2_167162277_G->A 2 167162277 167162277 G A snp 2480.77 0/1 99 249 140 109 0.44 intronic rs4429487 SCN9A AR,AD NM_002977 exon23 c.107120-24G>A 0.732428 0.6111 0.755526 0.7184 0.5925 Uncertain 2_167163043_T->C 2 167163043 167163043 T C snp 871.77 0/1 99 124 77 47 0.38 exonic rs9646771 SCN9A AR,AD synonymous SNV NM_002977 exon4 c.A444G p.P148P 0.641174 0.4593 0.712969 0.6841 0.5441 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000118307.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 2_167163199_A->T 2 167163199 167163199 A T snp 466.77 0/1 99 38 20 18 0.47 intronic rs9646772 SCN9A AR,AD NM_002977 exon24 c.107928+90A>T 0.649561 0.4593 Uncertain 2_167163372_T->C 2 167163372 167163372 T C snp 35.77 0/1 64 6 4 2 0.33 intronic rs4583483 SCN9A AR,AD NM_002977 exon25 c.108284-93T>C 0.60024 0.4405 Uncertain 2_167163373_C->A 2 167163373 167163373 C A snp 35.77 0/1 64 6 4 2 0.33 intronic rs4443015 SCN9A AR,AD NM_002977 exon25 c.108284-92C>A 0.60004 0.4405 Uncertain 2_167163663_C->T 2 167163663 167163663 C T snp 230.77 0/1 99 17 8 9 0.53 intronic rs4447616 SCN9A AR,AD NM_002977 exon25 c.108403+79C>T 0.616014 0.4435 Uncertain 2_167168093_C->T 2 167168093 167168093 C T snp 908.77 0/1 99 78 41 37 0.47 exonic rs6432901 SCN9A AR,AD synonymous SNV NM_002977 exon2 c.G174A p.Q58Q 0.574281 0.4087 0.676909 0.5874 0.4391 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000118295.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 2_167279922_C->A 2 167279922 167279922 C A snp 819.77 1/1 60 26 0 26 1.0 exonic rs6738031 SCN7A AU nonsynonymous SNV NM_002976 exon18 c.G2874T p.M958I 0.744609 0.6468 0.755467 0.7174 0.6918 1 T 0.001 P -0.922 T 0.0 T 0.0 T Pathogenic 2_167313337_T->G 2 167313337 167313337 T G snp 218.84 1/1 18 6 0 6 1.0 intronic rs7593207 SCN7A AU NM_002976 exon16 c.51290-42T>G 0.588658 0.4544 0.4882 0.3621 Uncertain 2_167321931_A->G 2 167321931 167321931 A G snp 660.77 0/1 99 73 41 32 0.44 intronic rs13417885 SCN7A AU NM_002976 exon18 c.59882-40A>G 0.134585 0.1379 0.091277 0.1200 0.2169 Uncertain 2_167328750_C->T 2 167328750 167328750 C T snp 2031.77 1/1 99 64 0 64 1.0 intronic rs2293567 SCN7A AU NM_002976 exon21 c.66737-76C>T 0.685903 0.6528 Uncertain 2_167334085_G->T 2 167334085 167334085 G T snp 2565.77 1/1 99 94 0 94 1.0 exonic rs7565062 SCN7A AU nonsynonymous SNV NM_002976 exon2 c.C122A p.T41N 0.688698 0.6617 0.701658 0.7247 0.7236 1 T 0.0 P -0.946 T 0.0 T 0.0 T Pathogenic 2_167759948_C->T 2 167759948 167759948 C T snp 1520.77 1/1 99 57 0 57 1.0 intronic rs7599152 XIRP2 AU 0.622204 0.6974 0.521732 0.5119 0.7161 Uncertain 2_168096254_T->C 2 168096254 168096254 T C snp 112.77 0/1 99 13 8 5 0.38 intronic rs79788542 XIRP2 AU NM_001199145 exon4 c.29016-110T>C 0.0790735 0.1329 Uncertain 2_168100851_C->T 2 168100851 168100851 C T snp 2288.77 0/1 99 192 92 100 0.52 intronic rs192182483 XIRP2 AU NM_152381 exon9 c.339086+1773C>T 0.00119808 0.006 0.0006 0.0075 ID=COSM207769;OCCURENCE=1(large_intestine) Uncertain 2_168986154_A->G 2 168986154 168986154 A G snp 2020.77 0/1 99 161 74 87 0.54 intronic rs925846 STK39 AU NM_013233 exon9 c.174111+38A>G 0.802915 0.7698 0.807318 0.8147 0.7840 Uncertain 2_168996775_T->C 2 168996775 168996775 T C snp 1912.77 1/1 99 61 0 61 1.0 intronic rs2278785 STK39 AU NM_013233 exon12 c.184793-23T>C 0.489217 0.6845 0.350452 0.3665 0.6919 Uncertain 2_168997097_A->G 2 168997097 168997097 A G snp 3233.06 1/1 99 104 1 103 0.99 intronic rs2278784 STK39 AU NM_013233 exon13 c.185153-61A>G 0.488019 0.6865 Uncertain 2_169020179_C->T 2 169020179 169020179 C T snp 104.77 0/1 99 12 8 4 0.33 intronic rs2292786 STK39 AU NM_013233 exon15 c.208243-69C>T 0.38139 0.5804 Uncertain 2_169418006_C->A 2 169418006 169418006 C A snp 481.77 1/1 36 14 0 14 1.0 intronic rs6433073 CERS6 AU NM_001256126 exon3 c.104874+174C>A 0.916534 0.8353 Uncertain 2_169439554_T->C 2 169439554 169439554 T C snp 647.77 0/1 99 36 14 22 0.61 intronic rs75919305 CERS6 AU NM_001256126 exon3 c.104874+21722T>C 0.0433307 0.1677 0 . Uncertain 2_169487611_T->- 2 169487611 169487611 T - indel 152.77 1/1 21 9 0 9 1.0 intronic rs11347055 CERS6 AU NM_001256126 exon4 c.174594+59delT 0.892372 0.8859 Uncertain 2_169551748_T->G 2 169551748 169551748 T G snp 142.77 0/1 99 12 7 5 0.42 intronic rs2288188 CERS6 AU NM_001256126 exon6 c.238603+187T>G 0.0421326 0.1379 Uncertain 2_169571414_G->T 2 169571414 169571414 G T snp 228.77 0/1 97 10 3 7 0.7 intronic rs13014488 CERS6 AU NM_001256126 exon7 c.258552-96G>T 0.295927 0.1984 Uncertain 2_169674655_T->C 2 169674655 169674655 T C snp 190.9 1/1 15 8 0 8 1.0 intronic rs830026 NOSTRIN AU NM_001039724 exon3 c.21987-6488T>C 0.911142 0.9851 0.8947 0.9810 Uncertain 2_169674663_A->T 2 169674663 169674663 A T snp 232.84 1/1 18 9 0 9 1.0 intronic rs830025 NOSTRIN AU NM_001039724 exon3 c.21987-6480A>T 0.910942 0.9851 0.9045 0.9828 Uncertain 2_169674764_C->G 2 169674764 169674764 C G snp 272.8 1/1 21 9 0 9 1.0 intronic rs830024 NOSTRIN AU NM_001039724 exon3 c.21987-6379C>G 0.72504 0.8978 0.7834 0.9167 Uncertain 2_169681151_C->T 2 169681151 169681151 C T snp 1781.77 0/1 99 171 87 84 0.49 exonic rs3732031 NOSTRIN AU synonymous SNV NM_001039724 exon3 c.C121T p.L41L 0.106829 0.2788 0.034314 0.0722 0.3011 Uncertain 2_169690729_T->C 2 169690729 169690729 T C snp 1217.77 0/1 99 117 65 52 0.44 intronic NOSTRIN AU NM_001039724 exon7 c.31580-7T>C 0.624601 0.7004 0.535397 0.5718 0.6695 Uncertain 2_169707263_AATTCTCTGG->- 2 169707263 169707272 AATTCTCTGG - indel 2814.73 0/1 99 55 30 25 0.45 intronic NOSTRIN AU NM_001171631 exon13 c.48189-82_48189-73delAATTCTCTGG 0.238618 0.2679 Uncertain 2_169707428_C->T 2 169707428 169707428 C T snp 2628.77 0/1 99 246 127 119 0.48 exonic NOSTRIN AU nonsynonymous SNV NM_001171631 exon13 c.C713T p.T238I 0.461462 0.6121 0.399036 0.5168 0.625 0.15 T 0.0 P -0.944 T 0.001 T 0.001 T Pathogenic 2_169707552_A->G 2 169707552 169707552 A G snp 2684.77 0/1 99 225 114 111 0.49 intronic NOSTRIN AU NM_001171631 exon13 c.48360+36A>G 0.468051 0.6121 0.388689 0.4984 0.5867 Uncertain 2_169712115_-->A 2 169712115 169712115 - A indel 80.82 1/1 17 11 0 11 1.0 intronic NOSTRIN AU NM_001039724 exon11 c.52814+145insA 0.686701 0.8313 Uncertain 2_169713084_-->A 2 169713084 169713084 - A indel 402.73 0/1 99 72 41 31 0.43 intronic NOSTRIN AU NM_001039724 exon12 c.54043-115insA 0.534545 0.5933 Uncertain 2_169717541_T->C 2 169717541 169717541 T C snp 700.77 0/1 99 58 31 27 0.47 intronic NOSTRIN AU NM_001039724 exon14 c.58263+122T>C 0.666134 0.6736 Uncertain 2_169717624_C->T 2 169717624 169717624 C T snp 267.8 1/1 21 7 0 7 1.0 intronic NOSTRIN AU NM_001039724 exon14 c.58263+205C>T 0.907149 0.9395 Uncertain 2_169721377_G->A 2 169721377 169721377 G A snp 4386.77 1/1 99 158 0 158 1.0 exonic NOSTRIN AU nonsynonymous SNV NM_001171632 exon15 c.G1334A p.G445E 0.907149 0.9395 0.866756 0.8639 0.9076 0.77 T 1.000 P -0.965 T 0.0 T 0.001 T Pathogenic 2_169721381_A->G 2 169721381 169721381 A G snp 2163.77 0/1 99 161 69 92 0.57 exonic NOSTRIN AU synonymous SNV NM_001171632 exon15 c.A1338G p.G446G 0.207268 0.2688 0.249415 0.2712 0.2749 Uncertain 2_169727879_-->A 2 169727879 169727879 - A indel 286.74 1/1 30 10 0 10 1.0 UTR3 rs11420514 SPC25 AU 0.912939 0.9405 Uncertain 2_169728070_AAA->- 2 169728070 169728072 AAA - indel 2104.73 1/1 99 69 1 68 0.99 splicing rs552439368 SPC25 AU NM_020675 exon1 c.125+5_125+7delAAA 0.808506 0.9147 0.7428 0.8018 Pathogenic 2_169763148_T->C 2 169763148 169763148 T C snp 6508.77 1/1 99 248 0 248 1.0 intronic G6PC2 AU NM_021176 exon4 c.5332-25T>C 0.886981 0.9782 0.792173 0.7894 0.9674 Uncertain 2_169764176_G->C 2 169764176 169764176 G C snp 1990.77 0/1 99 180 93 87 0.48 exonic G6PC2 AU nonsynonymous SNV NM_021176 exon5 c.G655C p.V219L 0.463458 0.4335 0.410503 0.4865 0.4302 1 T 1.000 P -0.937 T 0.0 T 0.0 T ID=CM151239;DIS=Fasting plasma glucose level, association with;TAG=DFP;PUB=25625282 DFP Pathogenic 2_169801488_A->G 2 169801488 169801488 A G snp 676.77 1/1 51 21 0 21 1.0 intronic rs853789 ABCB11 AR NM_003742 exon9 c.21340+17A>G 0.855232 0.9921 0.752349 0.7663 0.9923 Uncertain 2_169820618_A->G 2 169820618 169820618 A G snp 373.77 0/1 99 25 12 13 0.52 intronic rs4148796 ABCB11 AR NM_003742 exon11 c.40584-97A>G 0.288938 0.3562 Uncertain 2_169820619_T->C 2 169820619 169820619 T C snp 369.77 0/1 99 27 14 13 0.48 intronic rs4148795 ABCB11 AR NM_003742 exon11 c.40584-96T>C 0.288938 0.3562 Uncertain 2_169824739_-->A 2 169824739 169824739 - A indel 386.73 1/1 39 13 0 13 1.0 intronic rs4148789 ABCB11 AR NM_003742 exon12 c.44805-197insA 0.558706 0.7411 Uncertain 2_169824743_C->A 2 169824743 169824743 C A snp 550.77 1/1 42 15 0 15 1.0 intronic rs2389613 ABCB11 AR NM_003742 exon12 c.44805-193C>A 0.558706 0.7411 Uncertain 2_169824749_C->A 2 169824749 169824749 C A snp 759.77 1/1 57 21 0 21 1.0 intronic rs2892809 ABCB11 AR NM_003742 exon12 c.44805-187C>A 0.559305 0.7411 Uncertain 2_169826877_C->T 2 169826877 169826877 C T snp 4735.77 1/1 99 169 1 168 0.99 intronic rs2193831 ABCB11 AR NM_003742 exon14 c.46594+152C>T 0.596246 0.7401 0.5845 0.7698 Uncertain 2_169826998_A->G 2 169826998 169826998 A G snp 50.77 0/1 79 12 9 3 0.25 intronic rs2216502 ABCB11 AR NM_003742 exon14 c.46594+273A>G 0.130591 0.3879 Uncertain 2_169827018_C->T 2 169827018 169827018 C T snp 133.03 1/1 12 4 0 4 1.0 intronic rs4140386 ABCB11 AR NM_003742 exon14 c.46594+293C>T 0.596246 0.7401 Uncertain 2_169828277_G->A 2 169828277 169828277 G A snp 54.74 1/1 6 2 0 2 1.0 intronic rs2241341 ABCB11 AR NM_003742 exon15 c.48225-79G>A 0.596046 0.7401 Uncertain 2_169828325_A->G 2 169828325 169828325 A G snp 379.77 1/1 30 12 0 12 1.0 intronic rs2241340 ABCB11 AR NM_003742 exon15 c.48225-31A>G 0.596246 0.7401 0.594327 0.5820 0.7554 Uncertain 2_169830051_C->T 2 169830051 169830051 C T snp 820.77 1/1 63 21 0 21 1.0 intronic rs2389605 ABCB11 AR NM_003742 exon16 c.50093-173C>T 0.597045 0.7401 Uncertain 2_169830155_G->A 2 169830155 169830155 G A snp 4274.77 1/1 99 158 0 158 1.0 intronic rs2287623 ABCB11 AR NM_003742 exon16 c.50093-69G>A 0.597045 0.7401 Uncertain 2_169830328_A->G 2 169830328 169830328 A G snp 3656.77 1/1 99 121 0 121 1.0 exonic rs2287622 ABCB11 AR nonsynonymous SNV NM_003742 exon13 c.T1331C p.V444A 0.588658 0.6984 0.595775 0.5794 0.7293 0.34 T 0.924 P -0.896 T 0.001 T 0.003 T ID=CM071525;DIS=Cholestasis, drug-induced, association with;TAG=DFP;PUB=17264802 DFP Pathogenic 2_169830515_G->A 2 169830515 169830515 G A snp 54.74 1/1 6 2 0 2 1.0 intronic rs2287621 ABCB11 AR NM_003742 exon16 c.50219+165G>A 0.686901 0.744 Uncertain 2_169832971_C->T 2 169832971 169832971 C T snp 831.77 0/1 99 74 42 32 0.43 intronic rs4148783 ABCB11 AR NM_003742 exon17 c.52955-115C>T 0.0632987 0.2738 Uncertain 2_169842809_T->C 2 169842809 169842809 T C snp 505.77 1/1 39 15 0 15 1.0 intronic rs2287618 ABCB11 AR NM_003742 exon19 c.62663+15T>C 0.774161 0.8145 0.739566 0.7053 0.8069 Uncertain 2_169847412_A->G 2 169847412 169847412 A G snp 2591.77 0/1 99 230 122 108 0.47 exonic rs2287616 ABCB11 AR synonymous SNV NM_003742 exon9 c.T807C p.Y269Y 0.0646965 0.2867 0.001753 0.0306 0.3014 ID=COSM3682463,COSM3682464;OCCURENCE=1(urinary_tract) Uncertain 2_169847522_A->T 2 169847522 169847522 A T snp 420.77 0/1 99 36 21 15 0.42 intronic rs2287615 ABCB11 AR NM_003742 exon20 c.67304+87A>T 0.0642971 0.2857 Uncertain 2_169850056_C->T 2 169850056 169850056 C T snp 65.77 0/1 94 10 7 3 0.3 intronic rs3770598 ABCB11 AR NM_003742 exon21 c.70089-164C>T 0.0642971 0.2857 Uncertain 2_169870142_C->T 2 169870142 169870142 C T snp 246.77 0/1 99 25 16 9 0.36 intronic rs145685951 ABCB11 AR NM_003742 exon24 c.89889+122C>T 0.00758786 0.004 Uncertain 2_169870855_A->G 2 169870855 169870855 A G snp 2812.77 0/1 99 222 105 117 0.53 exonic rs3815675 ABCB11 AR synonymous SNV NM_003742 exon4 c.T108C p.D36D 0.063099 0.2808 0.001680 0.0304 0.2986 Uncertain 2_169871057_T->C 2 169871057 169871057 T C snp 80.77 0/1 99 6 3 3 0.5 intronic rs4148775 ABCB11 AR NM_003742 exon25 c.90733+193T>C 0.0634984 0.2817 Uncertain 2_169996183_T->C 2 169996183 169996183 T C snp 2126.77 0/1 99 170 82 88 0.52 intronic rs191348866 LRP2 AR NM_004525 exon7 c.10948+63T>C 0.00159744 0.0079 Uncertain 2_169997051_G->A 2 169997051 169997051 G A snp 781.77 0/1 99 58 23 35 0.6 exonic rs990626 LRP2 AR synonymous SNV NM_004525 exon72 c.C13113T p.I4371I 0.559505 0.4752 0.601338 0.6839 0.4525 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000117510.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 2_170003432_T->G 2 170003432 170003432 T G snp 1206.77 0/1 99 146 90 56 0.38 exonic rs4667591 LRP2 AR nonsynonymous SNV NM_004525 exon69 c.A12628C p.I4210L 0.555911 0.4901 0.604490 0.7176 0.4631 0.03 T 1.0 P -0.903 T 0.995 D 0.992 D CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000117509.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 ID=CM065295;DIS=Colorectal cancer, increased risk, association with;TAG=DP;PUB=17000706 DP Pathogenic 2_170010985_T->C 2 170010985 170010985 T C snp 1230.77 0/1 99 120 66 54 0.45 exonic rs2075252 LRP2 AR nonsynonymous SNV NM_004525 exon66 c.A12280G p.K4094E 0.777955 0.5208 0.801322 0.7621 0.4841 1 T 1.0 P -0.933 T 0.0 T 0.0 T CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000117508.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 2_170025340_C->T 2 170025340 170025340 C T snp 254.8 1/1 21 7 0 7 1.0 intronic rs2239602 LRP2 AR NM_004525 exon19 c.40014+154C>T 0.896965 0.7659 Uncertain 2_170032989_C->T 2 170032989 170032989 C T snp 3166.77 0/1 99 249 118 131 0.53 exonic rs2229265 LRP2 AR synonymous SNV NM_004525 exon54 c.G10503A p.Q3501Q 0.379593 0.1062 0.451407 0.4725 0.1025 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000117498.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 2_170050472_T->C 2 170050472 170050472 T C snp 966.77 0/1 99 58 22 36 0.62 intronic rs2075248 LRP2 AR NM_004525 exon33 c.65230+70T>C 0.523962 0.5417 Uncertain 2_170053505_C->T 2 170053505 170053505 C T snp 1429.77 0/1 99 114 53 61 0.54 exonic rs2228171 LRP2 AR nonsynonymous SNV NM_004525 exon46 c.G8614A p.A2872T 0.267971 0.5268 0.239582 0.2677 0.5647 0.64 T 0.000 P -0.933 T 0.0 T 0.0 T CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000117550.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 2_170053580_C->T 2 170053580 170053580 C T snp 437.77 0/1 99 27 12 15 0.56 intronic rs2302696 LRP2 AR NM_004525 exon34 c.68368+40C>T 0.342851 0.5268 0.323466 0.2924 0.5607 Uncertain 2_170055255_T->C 2 170055255 170055255 T C snp 2067.77 0/1 99 163 84 79 0.48 intronic rs16823023 LRP2 AR NM_004525 exon35 c.70123-40T>C 0.266374 0.5198 0.242350 0.2685 0.5570 Uncertain 2_170058497_G->A 2 170058497 170058497 G A snp 196.77 0/1 99 14 6 8 0.57 intronic rs16856600 LRP2 AR NM_004525 exon36 c.73208+117G>A 0.301118 0.5198 Uncertain 2_170059190_T->C 2 170059190 170059190 T C snp 677.77 0/1 99 62 33 29 0.47 intronic rs2239599 LRP2 AR NM_004525 exon37 c.74093-75T>C 0.346645 0.5397 Uncertain 2_170063783_T->C 2 170063783 170063783 T C snp 627.77 0/1 99 48 23 25 0.52 intronic rs13417389 LRP2 AR NM_004525 exon41 c.78588+23T>C 0.278754 0.3671 0.236344 0.2328 0.3783 Uncertain 2_170070172_C->T 2 170070172 170070172 C T snp 281.77 0/1 99 23 12 11 0.48 exonic rs4667596 LRP2 AR nonsynonymous SNV NM_004525 exon36 c.G6035A p.R2012K 0.0269569 0.0536 0.014686 0.0234 0.0508 0.99 T 1 D -0.790 T 0.016 T 0.005 T Pathogenic 2_170077165_C->T 2 170077165 170077165 C T snp 264.77 0/1 99 14 6 8 0.57 intronic rs3815572 LRP2 AR NM_004525 exon46 c.91901+92C>T 0.400559 0.4812 Uncertain 2_170082013_A->G 2 170082013 170082013 A G snp 1246.77 0/1 99 101 50 51 0.5 intronic rs2075246 LRP2 AR NM_004525 exon47 c.96791+50A>G 0.571486 0.4812 0.519914 0.4799 0.4651 Uncertain 2_170088351_G->A 2 170088351 170088351 G A snp 581.77 0/1 99 41 18 23 0.56 exonic rs2302694 LRP2 AR synonymous SNV NM_004525 exon31 c.C5100T p.S1700S 0.183706 0.0526 0.203983 0.1281 0.0543 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000117536.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 2_170088477_T->C 2 170088477 170088477 T C snp 222.84 1/1 18 7 0 7 1.0 intronic rs2302693 LRP2 AR NM_004525 exon49 c.103180+125T>C 0.63758 0.5357 Uncertain 2_170089824_T->C 2 170089824 170089824 T C snp 832.77 0/1 99 75 44 31 0.41 intronic rs2239596 LRP2 AR NM_004525 exon50 c.104748-96T>C 0.462859 0.4742 Uncertain 2_170089851_G->A 2 170089851 170089851 G A snp 1569.77 0/1 99 124 67 57 0.46 intronic rs2239595 LRP2 AR NM_004525 exon50 c.104748-69G>A 0.201877 0.369 Uncertain 2_170092395_A->G 2 170092395 170092395 A G snp 2290.77 0/1 99 194 93 101 0.52 exonic rs2229267 LRP2 AR synonymous SNV NM_004525 exon29 c.T4875C p.C1625C 0.461262 0.4058 0.377979 0.3337 0.4107 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000117534.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 2_170096018_G->A 2 170096018 170096018 G A snp 876.77 0/1 99 83 44 39 0.47 intronic rs830973 LRP2 AR NM_004525 exon54 c.110864-18G>A 0.444089 0.4742 0.341688 0.3933 0.4587 Uncertain 2_170099291_C->T 2 170099291 170099291 C T snp 77.77 0/1 99 6 3 3 0.5 intronic rs831040 LRP2 AR NM_004525 exon56 c.114293-174C>T 0.581869 0.4772 Uncertain 2_170099446_T->G 2 170099446 170099446 T G snp 2620.77 0/1 99 241 133 108 0.45 intronic rs831041 LRP2 AR NM_004525 exon56 c.114293-19T>G 0.61861 0.4772 0.535599 0.5383 0.4710 Uncertain 2_170099473_T->C 2 170099473 170099473 T C snp 2585.77 0/1 99 250 144 106 0.42 exonic rs831042 LRP2 AR synonymous SNV NM_004525 exon24 c.A3660G p.A1220A 0.581869 0.4772 0.503229 0.5231 0.4705 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000117527.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 2_170099895_A->C 2 170099895 170099895 A C snp 2016.77 0/1 99 161 82 79 0.49 intronic rs2075255 LRP2 AR NM_004525 exon57 c.114740-17A>C 0.0211661 0.0149 0.552514 0.5498 0.4781 Uncertain 2_170099899_G->A 2 170099899 170099899 G A snp 2303.77 0/1 99 176 87 89 0.51 intronic rs2075254 LRP2 AR NM_004525 exon57 c.114740-13G>A 0.61861 0.4772 0.534676 0.5373 0.4691 Uncertain 2_170103336_T->C 2 170103336 170103336 T C snp 2379.77 0/1 99 232 130 102 0.44 exonic rs831043 LRP2 AR synonymous SNV NM_004525 exon21 c.A3069G p.T1023T 0.61861 0.4792 0.535753 0.5385 0.4720 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000117524.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 2_170103351_G->T 2 170103351 170103351 G T snp 2311.77 0/1 99 219 123 96 0.44 exonic rs2075249 LRP2 AR synonymous SNV NM_004525 exon21 c.C3054A p.T1018T 0.45647 0.4792 0.402430 0.4921 0.4670 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000117523.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 2_170115588_T->C 2 170115588 170115588 T C snp 3387.77 0/1 99 250 118 132 0.53 exonic rs2241190 LRP2 AR synonymous SNV NM_004525 exon17 c.A2460G p.T820T 0.622404 0.4841 0.542750 0.5464 0.4714 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000117518.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 2_170129528_G->A 2 170129528 170129528 G A snp 4301.77 1/1 99 159 0 159 1.0 exonic rs830994 LRP2 AR synonymous SNV NM_004525 exon15 c.C2025T p.V675V 0.609625 0.8859 0.615024 0.6245 0.9105 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000117515.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 2_170129636_A->G 2 170129636 170129636 A G snp 2406.77 1/1 99 86 0 86 1.0 intronic rs830995 LRP2 AR NM_004525 exon65 c.144405+59A>G 0.674321 0.8919 Uncertain 2_170134191_G->C 2 170134191 170134191 G C snp 827.77 1/1 60 28 0 28 1.0 intronic rs831003 LRP2 AR NM_004525 exon67 c.149082-63G>C 0.764377 0.9028 Uncertain 2_170135742_C->T 2 170135742 170135742 C T snp 96.28 1/1 9 3 0 3 1.0 intronic rs831004 LRP2 AR NM_004525 exon68 c.150709-139C>T 0.573882 0.88 Uncertain 2_170139346_C->T 2 170139346 170139346 C T snp 3331.77 1/1 99 114 0 114 1.0 intronic rs831010 LRP2 AR NM_004525 exon70 c.154210-36C>T 0.832268 0.8998 0.827310 0.8298 0.9151 Uncertain 2_170139639_A->G 2 170139639 170139639 A G snp 936.77 1/1 69 26 0 26 1.0 intronic rs831011 LRP2 AR NM_004525 exon70 c.154339+128A>G 0.754193 0.881 Uncertain 2_170218816_T->C 2 170218816 170218816 T C snp 1177.77 1/1 87 35 0 35 1.0 intronic rs1559013 LRP2 AR NM_004525 exon79 c.233658-14T>C 0.984625 1 0.988531 0.9964 1 Uncertain 2_170218847_C->G 2 170218847 170218847 C G snp 1489.77 1/1 99 50 0 50 1.0 exonic rs1559014 LRP2 AR synonymous SNV NM_004525 exon1 c.G63C p.A21A 0.984625 1 0.989243 0.9971 1 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000117542.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 2_170336024_G->C 2 170336024 170336024 G C snp 5202.77 1/1 99 197 0 197 1.0 UTR5 rs1879466 BBS5 AR 0.917532 0.9762 0.898355 0.9107 0.9806 Uncertain 2_170339003_C->A 2 170339003 170339003 C A snp 209.77 0/1 99 26 18 8 0.31 intronic rs2353187 BBS5 AR NM_152384 exon2 c.2780+160C>A 0.690096 0.7302 Uncertain 2_170355944_A->T 2 170355944 170355944 A T snp 120.77 0/1 66 6 2 4 0.67 intronic rs12692909 BBS5 AR NM_152384 exon9 c.19932-51A>T 0.382788 0.4504 0.386308 Uncertain 2_170394469_T->G 2 170394469 170394469 T G snp 757.77 0/1 99 65 30 35 0.54 intronic rs2290004 FASTKD1 AU NM_024622 exon5 c.8188-53T>G 0.0609026 0.122 Uncertain 2_170394487_T->A 2 170394487 170394487 T A snp 826.77 0/1 99 75 39 36 0.48 intronic rs2290005 FASTKD1 AU NM_024622 exon5 c.8188-35T>A 0.326478 0.4593 0.303522 0.3802 0.4669 Uncertain 2_170394808_A->G 2 170394808 170394808 A G snp 56.74 1/1 6 2 0 2 1.0 intronic rs3816351 FASTKD1 AU NM_024622 exon5 c.8317+157A>G 0.0611022 0.123 Uncertain 2_170402707_T->C 2 170402707 170402707 T C snp 566.77 0/1 99 48 25 23 0.48 intronic rs2290009 FASTKD1 AU NM_024622 exon8 c.16393-20T>C 0.0447284 0.126 0.024093 0.0435 0.1361 Uncertain 2_170403030_T->C 2 170403030 170403030 T C snp 1125.77 0/1 99 143 97 46 0.32 exonic rs2253680 FASTKD1 AU nonsynonymous SNV NM_001281476 exon8 c.A1399G p.M467V 0.542931 0.5089 0.556897 0.5731 0.5194 0.85 T 0.0 P -0.945 T 0.0 T 0.002 T Pathogenic 2_170411693_T->C 2 170411693 170411693 T C snp 618.77 0/1 99 54 25 29 0.54 exonic rs2683455 FASTKD1 AU synonymous SNV NM_001281476 exon7 c.A1155G p.L385L 0.679513 0.755 0.661360 0.6636 0.7723 Uncertain 2_170413525_A->- 2 170413525 170413525 A - indel 108.87 1/1 15 5 0 5 1.0 intronic rs11289947 FASTKD1 AU NM_024622 exon10 c.27362-171delA 0.959864 0.9931 Uncertain 2_170413897_-->A 2 170413897 170413897 - A indel 117.87 1/1 15 8 0 8 1.0 intronic rs56157235 FASTKD1 AU NM_024622 exon10 c.27473+90insA 0.767572 0.9583 Uncertain 2_170417374_G->T 2 170417374 170417374 G T snp 40.77 0/1 33 3 1 2 0.67 intronic FASTKD1 AU NM_024622 exon11 c.30961+79G>T Uncertain 2_170425523_A->C 2 170425523 170425523 A C snp 166.9 1/1 15 6 0 6 1.0 intronic rs2683446 FASTKD1 AU NM_024622 exon13 c.39359-170A>C Uncertain 2_170441001_G->A 2 170441001 170441001 G A snp 1708.77 0/1 99 142 61 81 0.57 splicing rs2276611 PPIG AU 0.19369 0.2212 0.1846 0.1987 1.0 P Pathogenic 2_170465125_G->A 2 170465125 170465125 G A snp 542.77 0/1 99 54 27 27 0.5 intronic rs79028989 PPIG AU NM_004792 exon7 c.4629-55G>A 0.067492 0.1746 0.035511 Uncertain 2_170488454_A->G 2 170488454 170488454 A G snp 882.77 0/1 99 60 21 39 0.65 intronic rs3754921 PPIG AU NM_004792 exon11 c.27892+11A>G 0.584065 0.4296 0.620846 0.5940 0.4714 Uncertain 2_170492567_A->G 2 170492567 170492567 A G snp 150.77 0/1 99 14 8 6 0.43 intronic rs2290007 PPIG AU NM_004792 exon13 c.32050-34A>G 0.584265 0.4296 0.620899 0.5726 0.4320 Uncertain 2_170492584_T->C 2 170492584 170492584 T C snp 506.77 1/1 39 19 0 19 1.0 intronic rs2290008 PPIG AU NM_004792 exon13 c.32050-17T>C 0.653954 0.6091 0.660437 0.6223 0.6141 Uncertain 2_170493103_T->A 2 170493103 170493103 T A snp 150.77 0/1 99 35 25 10 0.29 exonic rs1050354 PPIG AU nonsynonymous SNV NM_004792 exon14 c.T1335A p.D445E 0.584265 0.4296 0.620431 0.5724 0.4306 0.5 T 0.877 P -1.038 T 0.02 T 0.007 T Pathogenic 2_170550956_A->C 2 170550956 170550956 A C snp 373.77 0/1 99 23 11 12 0.52 upstream rs1446901 CCDC173 AU 0.585863 0.4296 Uncertain 2_170592709_A->G 2 170592709 170592709 A G snp 1774.77 0/1 99 143 72 71 0.5 exonic rs2288331 KLHL23 AU synonymous SNV NM_144711 exon2 c.A1185G p.K395K 0.15635 0.1766 0.159157 0.1564 0.1814 Uncertain 2_170605981_C->T 2 170605981 170605981 C T snp 1938.77 1/1 99 67 0 67 1.0 exonic rs4667607 KLHL23 AU synonymous SNV NM_144711 exon4 c.C1416T p.G472G 0.992412 1 0.991081 0.9976 1 Uncertain 2_170606424_TATA->- 2 170606424 170606427 TATA - indel 701.73 1/1 46 24 1 23 0.96 UTR3 rs72113382 KLHL23 AU 0.733427 0.8938 Uncertain 2_170606439_ATAC->- 2 170606439 170606442 ATAC - indel 735.73 1/1 51 18 0 18 1.0 UTR3 rs10611184 KLHL23 AU Uncertain 2_170606450_C->T 2 170606450 170606450 C T snp 411.74 0/1 6 16 1 15 0.94 UTR3 rs79825047 KLHL23 AU 0.732428 0.7083 Uncertain 2_170606477_AT->- 2 170606477 170606478 AT - indel 224.8 1/1 18 7 0 7 1.0 UTR3 rs59378347 KLHL23 AU 0.909345 0.9107 Uncertain 2_170606527_A->G 2 170606527 170606527 A G snp 44.77 0/1 33 3 1 2 0.67 UTR3 rs10209295 KLHL23 AU 0.373602 0.4167 Uncertain 2_170606588_A->G 2 170606588 170606588 A G snp 187.9 1/1 15 10 0 10 1.0 UTR3 rs10164488 KLHL23 AU 0.517971 0.4931 Uncertain 2_170606610_ATAC->- 2 170606610 170606613 ATAC - indel 656.74 1/1 30 10 0 10 1.0 UTR3 rs138903414 KLHL23 AU 0.540136 0.7173 Uncertain 2_170606621_T->C 2 170606621 170606621 T C snp 227.84 1/1 18 10 0 10 1.0 UTR3 rs10200721 KLHL23 AU 0.520567 0.6577 Uncertain 2_170606658_G->A 2 170606658 170606658 G A snp 322.78 1/1 24 13 0 13 1.0 UTR3 rs1469355 KLHL23 AU 0.801917 0.7966 Uncertain 2_170606724_A->G 2 170606724 170606724 A G snp 694.77 1/1 51 24 0 24 1.0 UTR3 rs10164599 KLHL23 AU 0.954673 0.999 Uncertain 2_170632807_C->T 2 170632807 170632807 C T snp 457.77 1/1 39 14 0 14 1.0 intergenic rs10930375 PHOSPHO2-KLHL23 AU 0.344848 0.4742 Uncertain 2_170632896_T->C 2 170632896 170632896 T C snp 2363.77 1/1 99 91 0 91 1.0 intergenic rs10930376 PHOSPHO2-KLHL23 AU 0.344449 0.4732 Uncertain 2_170633104_A->- 2 170633104 170633104 A - indel 2806.73 1/1 99 70 0 70 1.0 intergenic rs11325477 PHOSPHO2-KLHL23 AU 0.901358 0.9831 Uncertain 2_170662634_C->A 2 170662634 170662634 C A snp 114.77 0/1 99 9 5 4 0.44 intronic rs13393212 SSB AU NM_003142 exon4 c.4879+285C>A 0.258586 0.375 Uncertain 2_170665108_G->A 2 170665108 170665108 G A snp 198.77 0/1 99 10 3 7 0.7 intronic rs2556352 SSB AU NM_003142 exon7 c.7593+45G>A 0.564896 0.4653 0.643088 0.6549 0.4452 Uncertain 2_170668106_G->A 2 170668106 170668106 G A snp 121.77 0/1 99 13 7 6 0.46 intronic rs2246149 SSB AU NM_003142 exon12 c.10707-71G>A 0.563498 0.4653 Uncertain 2_170668813_C->T 2 170668813 170668813 C T snp 530.77 0/1 99 40 19 21 0.53 intronic rs3731674 METTL5 AU NM_014168 exon2 c.637-153C>T 0.50599 0.4474 0.6298 0.4455 Uncertain 2_170676227_T->C 2 170676227 170676227 T C snp 278.77 0/1 99 26 16 10 0.38 intronic rs1541776 METTL5 AU NM_014168 exon4 c.7824+74T>C 0.701478 0.6032 Uncertain 2_170677838_C->- 2 170677838 170677838 C - indel 326.73 0/1 99 19 8 11 0.58 intronic rs59311986 METTL5 AU NM_014168 exon5 c.9454+55delC 0.259784 0.381 Uncertain 2_170677855_-->T 2 170677855 170677855 - T indel 88.73 0/1 99 17 8 9 0.53 intronic rs397786510 METTL5 AU NM_014168 exon5 c.9454+72insT 0.498003 0.4375 Uncertain 2_170684224_C->T 2 170684224 170684224 C T snp 532.77 0/1 99 30 11 19 0.63 exonic rs2303555 UBR3 AU synonymous SNV NM_172070 exon1 c.C207T p.A69A 0.40595 0.504 0.6510 . Uncertain 2_170762487_C->T 2 170762487 170762487 C T snp 4558.77 1/1 99 145 0 145 1.0 intronic rs10171268 UBR3 AU NM_172070 exon10 c.78523-53C>T 0.97504 1 Uncertain 2_170762566_A->T 2 170762566 170762566 A T snp 3210.76 0/1 99 250 125 125 0.5 exonic rs10194785 UBR3 AU synonymous SNV NM_172070 exon10 c.A1671T p.L557L 0.277157 0.376 0.203241 0.2468 0.3822 Uncertain 2_170782037_C->T 2 170782037 170782037 C T snp 385.77 1/1 30 11 0 11 1.0 intronic rs1461958 UBR3 AU NM_172070 exon14 c.98111-91C>T 0.976637 1 Uncertain 2_170782338_C->T 2 170782338 170782338 C T snp 358.77 0/1 99 29 16 13 0.45 intronic rs13016918 UBR3 AU NM_172070 exon14 c.98240+81C>T 0.398562 0.4524 Uncertain 2_170783691_G->A 2 170783691 170783691 G A snp 80.77 0/1 67 5 2 3 0.6 intronic UBR3 AU NM_172070 exon17 c.99812-138G>A Uncertain 2_170784004_T->C 2 170784004 170784004 T C snp 155.77 0/1 99 10 3 7 0.7 intronic rs6723655 UBR3 AU NM_172070 exon17 c.99898+89T>C 0.331669 0.4216 Uncertain 2_170784049_G->A 2 170784049 170784049 G A snp 178.9 1/1 15 5 0 5 1.0 intronic rs898851 UBR3 AU NM_172070 exon17 c.99898+134G>A 0.730631 0.874 Uncertain 2_170785484_G->A 2 170785484 170785484 G A snp 465.77 0/1 99 30 14 16 0.53 intronic rs10165565 UBR3 AU NM_172070 exon18 c.101361+106G>A 0.308506 0.4216 Uncertain 2_170821010_A->G 2 170821010 170821010 A G snp 1250.77 0/1 99 121 63 58 0.48 intronic rs10197085 UBR3 AU NM_172070 exon24 c.131019+5974A>G 0.28115 0.379 0.2743 0.3786 Uncertain 2_170850738_T->C 2 170850738 170850738 T C snp 845.77 1/1 63 23 0 23 1.0 intronic rs1461959 UBR3 AU NM_172070 exon26 c.166815-94T>C 0.981829 1 Uncertain 2_170870595_T->C 2 170870595 170870595 T C snp 657.77 0/1 99 54 30 24 0.44 intronic rs10497357 UBR3 AU NM_172070 exon30 c.187773-1195T>C 0.394569 0.4871 Uncertain 2_170871950_T->G 2 170871950 170871950 T G snp 108.77 0/1 99 21 13 8 0.38 intronic rs16857446 UBR3 AU NM_172070 exon30 c.187859+74T>G 0.245807 0.3452 Uncertain 2_170871976_A->G 2 170871976 170871976 A G snp 423.77 1/1 33 11 0 11 1.0 intronic rs13028230 UBR3 AU NM_172070 exon30 c.187859+100A>G 0.669129 0.8323 Uncertain 2_170911950_T->C 2 170911950 170911950 T C snp 1582.77 0/1 99 106 43 63 0.59 intronic rs6741614 UBR3 AU NM_172070 exon33 c.227952-19T>C 0.240815 0.3621 0.166462 0.2005 0.3736 Uncertain 2_170917648_A->G 2 170917648 170917648 A G snp 694.77 0/1 99 86 50 36 0.42 exonic rs10203212 UBR3 AU synonymous SNV NM_172070 exon34 c.A4845G p.L1615L 0.332069 0.4077 0.279572 0.2813 0.4208 1.000 P -1.017 T Likely benign 2_170917984_T->- 2 170917984 170917984 T - indel 1918.73 1/1 99 109 2 107 0.98 intronic rs35032863 UBR3 AU NM_172070 exon35 c.233936+31delT 0.65016 0.7679 0.6632 0.7526 Uncertain 2_170929880_G->A 2 170929880 170929880 G A snp 634.77 0/1 99 59 33 26 0.44 intronic rs10202446 UBR3 AU NM_172070 exon36 c.245920-57G>A 0.340256 0.4256 Uncertain 2_171070810_G->T 2 171070810 171070810 G T snp 1793.77 1/1 99 66 0 66 1.0 intronic rs67994603 MYO3B AU NM_001083615 exon4 c.36091-78G>T 0.546526 0.5466 Uncertain 2_171071369_C->T 2 171071369 171071369 C T snp 3746.77 1/1 99 128 0 128 1.0 intronic rs4667626 MYO3B AU NM_001083615 exon5 c.36541+31C>T 0.952276 0.995 0.907681 0.9258 0.9957 Uncertain 2_171073887_G->A 2 171073887 171073887 G A snp 2874.77 0/1 99 250 123 127 0.51 exonic rs2161916 MYO3B AU synonymous SNV NM_001083615 exon6 c.G585A p.P195P 0.576677 0.5714 0.575202 0.5554 0.5931 1.000 P -1.097 T Likely benign 2_171074008_G->C 2 171074008 171074008 G C snp 1382.77 0/1 99 121 65 56 0.46 intronic rs6713360 MYO3B AU NM_001083615 exon6 c.39108+103G>C 0.300719 0.4236 Uncertain 2_171192084_G->A 2 171192084 171192084 G A snp 1523.77 0/1 99 131 68 63 0.48 intronic rs12466203 MYO3B AU NM_001083615 exon8 c.157163+124G>A 0.63139 0.7222 Uncertain 2_171240550_T->A 2 171240550 171240550 T A snp 139.03 1/1 12 4 0 4 1.0 intronic rs2048987 MYO3B AU NM_001083615 exon12 c.205527+226T>A 0.375799 0.753 Uncertain 2_171240556_C->T 2 171240556 171240556 C T snp 96.28 1/1 9 3 0 3 1.0 intronic rs4668253 MYO3B AU NM_001083615 exon12 c.205527+232C>T 0.154553 0.4613 Uncertain 2_171243920_C->G 2 171243920 171243920 C G snp 680.77 1/1 51 21 0 21 1.0 intronic rs72874578 MYO3B AU NM_001083615 exon14 c.209021+102C>G 0.0898562 0.0546 Uncertain 2_171259308_T->G 2 171259308 171259308 T G snp 1346.77 1/1 99 42 0 42 1.0 intronic rs17579757 MYO3B AU NM_001083615 exon19 c.224560-49T>G 0.238618 0.4742 0.121519 0.1882 0.5191 Uncertain 2_171260708_C->A 2 171260708 171260708 C A snp 969.77 0/1 99 75 37 38 0.51 intronic rs10930425 MYO3B AU NM_001083615 exon20 c.225959-48C>A 0.780351 0.7312 0.844650 0.8520 0.6938 Uncertain 2_171260787_G->A 2 171260787 171260787 G A snp 1743.77 0/1 99 161 86 75 0.47 exonic rs6736609 MYO3B AU nonsynonymous SNV NM_001083615 exon20 c.G2308A p.V770I 0.780152 0.7292 0.844545 0.8507 0.6937 0.2 T 0.0 P -0.982 T 0.0 T 0.003 T Pathogenic 2_171260820_T->C 2 171260820 171260820 T C snp 1902.77 0/1 99 164 84 80 0.49 exonic rs6751520 MYO3B AU synonymous SNV NM_001083615 exon20 c.T2341C p.L781L 0.78095 0.7321 0.844871 0.8509 0.6951 Uncertain 2_171261021_T->G 2 171261021 171261021 T G snp 1113.77 1/1 81 38 0 38 1.0 intronic rs6751781 MYO3B AU NM_001083615 exon20 c.226113+111T>G 0.888778 0.9742 Uncertain 2_171264091_-->GCTCTGGATATGAAAGCTCTGGATATGAAA 2 171264091 171264091 - GCTCTGGATATGAAAGCTCTGGATATGAAA indel 1575.87 1/1 15 5 0 5 1.0 intronic rs138990294 MYO3B AU NM_001083615 exon22 c.229427-133insGCTCTGGATATGAAAGCTCTGGATATGAAA 0.171725 0.4623 Uncertain 2_171264179_C->T 2 171264179 171264179 C T snp 5444.77 1/1 99 200 1 199 0.99 intronic rs72876321 MYO3B AU NM_001083615 exon22 c.229427-45C>T 0.167732 0.4613 0.050342 0.1159 0.4937 Uncertain 2_171300648_T->A 2 171300648 171300648 T A snp 1542.77 1/1 99 48 0 48 1.0 intronic rs4667639 MYO3B AU NM_001083615 exon23 c.265759+92T>A 0.444289 0.4097 Uncertain 2_171323328_T->C 2 171323328 171323328 T C snp 135.77 0/1 99 17 11 6 0.35 intronic rs4359605 MYO3B AU NM_001083615 exon25 c.288424+107T>C 0.379393 0.373 Uncertain 2_171355198_A->G 2 171355198 171355198 A G snp 5635.77 1/1 99 200 0 200 1.0 exonic rs6761297 MYO3B AU synonymous SNV NM_001083615 exon26 c.A3111G p.V1037V 0.979233 0.9911 0.983392 0.9911 0.9919 Uncertain 2_171355329_G->C 2 171355329 171355329 G C snp 2598.77 1/1 99 84 0 84 1.0 intronic rs6733198 MYO3B AU NM_001083615 exon26 c.320416+116G>C 0.90595 0.9911 Uncertain 2_171355426_T->C 2 171355426 171355426 T C snp 216.84 1/1 18 6 0 6 1.0 intronic rs6748052 MYO3B AU NM_001083615 exon26 c.320416+213T>C 0.905551 0.9911 Uncertain 2_171356274_G->A 2 171356274 171356274 G A snp 2005.77 1/1 99 75 0 75 1.0 exonic rs10185178 MYO3B AU nonsynonymous SNV NM_001083615 exon27 c.G3245A p.R1082K 0.903355 0.9911 0.916900 0.9721 0.9919 1 T 0.659 P -0.935 T 0.005 T 0.008 T Pathogenic 2_171356423_T->C 2 171356423 171356423 T C snp 34.77 0/1 63 7 5 2 0.29 intronic rs9752383 MYO3B AU NM_001083615 exon27 c.321521+105T>C 0.585064 0.4673 Uncertain 2_171358211_G->A 2 171358211 171358211 G A snp 3050.77 1/1 99 117 0 117 1.0 intronic rs7593940 MYO3B AU NM_138995 exon28 c.323497-83G>A 0.90595 0.9911 Uncertain 2_171358474_T->A 2 171358474 171358474 T A snp 228.77 0/1 99 13 6 7 0.54 intronic rs7608168 MYO3B AU NM_138995 exon28 c.323578+99T>A 0.861621 0.9038 Uncertain 2_171503330_C->T 2 171503330 171503330 C T snp 814.77 0/1 99 75 39 36 0.48 intronic rs6761488 MYO3B AU NM_001083615 exon32 c.473340-4807C>T 0.163339 0.2133 Uncertain 2_171507978_T->G 2 171507978 171507978 T G snp 445.77 0/1 99 24 10 14 0.58 intronic rs76308138 MYO3B AU NM_001083615 exon32 c.473340-159T>G 0.123403 0.1518 Uncertain 2_171508056_T->C 2 171508056 171508056 T C snp 1501.77 0/1 99 123 63 60 0.49 intronic rs12999176 MYO3B AU NM_001083615 exon32 c.473340-81T>C 0.124002 0.1518 Uncertain 2_171508262_G->A 2 171508262 171508262 G A snp 1497.77 0/1 99 165 98 67 0.41 intronic rs6724627 MYO3B AU NM_001083615 exon32 c.473447+18G>A 0.411941 0.2907 0.386840 0.3297 0.2926 Uncertain 2_171508491_A->- 2 171508491 171508491 A - indel 2186.73 1/1 99 66 0 66 1.0 intronic rs10718459 MYO3B AU NM_001083615 exon33 c.473820-126delA Uncertain 2_171570488_C->G 2 171570488 171570488 C G snp 488.77 0/1 99 47 28 19 0.4 ncRNA_exonic rs7563812 LINC01124 AU 0.703674 0.7788 0.6603 0.8193 0 D -0.979 T 0.0 T 0.0 T Uncertain 2_171572940_G->A 2 171572940 171572940 G A snp 1915.77 0/1 99 160 75 85 0.53 exonic rs3749036 SP5 AU nonsynonymous SNV NM_001003845 exon2 c.G223A p.A75T 0.438299 0.5962 0.381034 0.3800 0.5852 0.65 T 0.020 P -0.997 T 0.0 T 0.0 T Pathogenic 2_171627676_T->G 2 171627676 171627676 T G snp 3505.77 1/1 99 144 0 144 1.0 exonic rs1861462 ERICH2 AU nonsynonymous SNV NM_001290030 exon1 c.T485G p.L162R 0.953874 1 Pathogenic 2_171632225_C->T 2 171632225 171632225 C T snp 116.77 0/1 99 11 7 4 0.36 intronic rs17694506 ERICH2 AU NM_001290031 exon2 c.6465-1431C>T 0.676717 0.7778 Uncertain 2_171632385_-->TT 2 171632385 171632385 - TT indel 2288.73 1/1 99 43 0 43 1.0 intronic rs10626619 ERICH2 AU NM_001290031 exon2 c.6465-1271insTT 0.939696 1 Uncertain 2_171632401_C->T 2 171632401 171632401 C T snp 554.77 0/1 99 50 28 22 0.44 intronic rs13028382 ERICH2 AU NM_001290031 exon2 c.6465-1255C>T 0.288938 0.5933 Uncertain 2_171634348_A->- 2 171634348 171634348 A - indel 2113.73 0/1 99 117 59 58 0.5 UTR3 rs11334749 ERICH2 AU 0.697684 0.7788 Uncertain 2_171649402_C->T 2 171649402 171649402 C T snp 312.77 0/1 99 46 28 18 0.39 exonic rs3764916 ERICH2 AU synonymous SNV NM_001289947 exon3 c.C246T p.Y82Y 0.289137 0.5933 0.2930 0.6004 Uncertain 2_171654321_A->G 2 171654321 171654321 A G snp 290.03 0/1 12 10 1 9 0.9 intronic rs7601631 ERICH2 AU NM_001289947 exon4 c.14202-229A>G Uncertain 2_171654663_A->C 2 171654663 171654663 A C snp 1248.77 1/1 90 38 0 38 1.0 intronic rs2287111 ERICH2 AU NM_001289947 exon4 c.14274+41A>C 0.704872 0.8145 0.6756 0.7890 Uncertain 2_171678379_C->T 2 171678379 171678379 C T snp 150.77 0/1 99 10 5 5 0.5 intronic rs2241165 GAD1 AR NM_000817 exon3 c.3495-217C>T 0.618211 0.7272 Uncertain 2_171678625_T->C 2 171678625 171678625 T C snp 1939.77 0/1 99 194 105 89 0.46 exonic rs769404 GAD1 AR synonymous SNV NM_000817 exon3 c.T111C p.H37H 0.357228 0.506 0.338050 0.4247 0.4986 Uncertain 2_171705158_T->- 2 171705158 171705158 T - indel 341.73 0/1 99 30 14 16 0.53 intronic rs35403424 GAD1 AR NM_000817 exon12 c.30694-637delT 0.304912 0.2183 0.377781 0.5264 0.3884 Uncertain 2_171786169_A->G 2 171786169 171786169 A G snp 101.28 1/1 9 4 0 4 1.0 intronic rs2676158 GORASP2 AU NM_015530 exon1 c.63+256A>G 0.88099 1 Uncertain 2_171811337_A->G 2 171811337 171811337 A G snp 1018.77 0/1 99 78 37 41 0.53 intronic rs543155553 GORASP2 AU NM_001201428 exon6 c.5184+45A>G 0.000199681 0.001 0.0002 0.0022 Uncertain 2_171812924_T->G 2 171812924 171812924 T G snp 1653.77 0/1 99 128 57 71 0.55 intronic rs752101630 GORASP2 AU NM_001201428 exon7 c.6837-21T>G 0.0003 0.0011 Uncertain 2_171818289_G->A 2 171818289 171818289 G A snp 6658.77 1/1 99 222 0 222 1.0 intronic rs2557804 GORASP2 AU NM_001201428 exon8 c.12151+30G>A 1 1 1.0000 1 Uncertain 2_171822466_C->T 2 171822466 171822466 C T snp 6865.77 1/1 99 248 0 248 1.0 exonic rs4668356 GORASP2 AU synonymous SNV NM_001201428 exon10 c.C981T p.S327S 0.840256 1 0.817161 0.9099 0.9993 Uncertain 2_171822576_C->T 2 171822576 171822576 C T snp 2593.77 0/1 99 216 105 111 0.51 exonic rs3770436 GORASP2 AU nonsynonymous SNV NM_001201428 exon10 c.C1091T p.S364F 0.117412 0.3046 0.016300 0.0690 0.3140 0.15 T 0.005 P -1.010 T 0.8 T 0.467 P Pathogenic 2_171850329_T->G 2 171850329 171850329 T G snp 381.77 0/1 99 41 22 19 0.46 exonic rs3731993 TLK1 AU synonymous SNV NM_012290 exon21 c.A2262C p.A754A 0.113019 0.2917 0.016838 0.0707 0.3099 Uncertain 2_171851048_-->A 2 171851048 171851048 - A indel 39.73 0/1 77 19 13 6 0.32 intronic rs11397597 TLK1 AU NM_012290 exon1 c.177+582insA Uncertain 2_171911445_TC->- 2 171911445 171911446 TC - indel 320.73 0/1 99 15 7 8 0.53 intronic rs34554110 TLK1 AU NM_012290 exon15 c.61303-147_61303-146delTC 0.106629 0.2837 Uncertain 2_171916664_A->T 2 171916664 171916664 A T snp 936.77 1/1 69 29 0 29 1.0 intronic rs2676130 TLK1 AU NM_012290 exon18 c.67301-926A>T 0.960663 1 Uncertain 2_172016717_G->T 2 172016717 172016717 G T snp 88.28 1/1 9 5 0 5 1.0 intronic rs3821085 TLK1 AU NM_012290 exon21 c.166510-82G>T 0.0806709 0.1528 Uncertain 2_172016728_G->- 2 172016728 172016728 G - indel 100.73 0/1 34 7 2 5 0.71 intronic rs377552379 TLK1 AU NM_012290 exon21 c.166510-71delG 0.0988419 0.2381 Uncertain 2_172016729_G->A 2 172016729 172016729 G A snp 151.78 0/1 27 9 2 7 0.78 intronic rs545225410 TLK1 AU NM_012290 exon21 c.166510-70G>A 0.0988419 0.2381 Uncertain 2_172180771_A->G 2 172180771 172180771 A G snp 2260.77 1/1 99 83 0 83 1.0 exonic rs10205459 METTL8 AU unknown 0.998203 1 0.997591 0.9992 1 0.0 P -1.047 T Uncertain 2_172182426_A->G 2 172182426 172182426 A G snp 458.77 0/1 99 45 20 25 0.56 intronic rs773628759 METTL8 AU NM_024770 exon2 c.1735+10A>G 4.888e-05 0.0006 Uncertain 2_172378818_A->G 2 172378818 172378818 A G snp 4866.77 1/1 99 176 0 176 1.0 upstream rs868106 CYBRD1 AU 0.727636 0.8423 0.6403 0.8292 Uncertain 2_172378889_C->G 2 172378889 172378889 C G snp 1766.77 1/1 99 50 0 50 1.0 UTR5 rs2356782 CYBRD1 AU 0.726837 0.8393 Uncertain 2_172378893_G->A 2 172378893 172378893 G A snp 1553.77 1/1 99 45 0 45 1.0 UTR5 rs3731976 CYBRD1 AU 0.514776 0.6905 Uncertain 2_172379686_G->A 2 172379686 172379686 G A snp 4123.77 1/1 99 147 0 147 1.0 intronic rs960750 CYBRD1 AU NM_024843 exon1 c.193+438G>A 0.71226 0.8383 Uncertain 2_172379781_G->A 2 172379781 172379781 G A snp 7013.77 1/1 99 250 0 250 1.0 intronic rs960749 CYBRD1 AU NM_024843 exon1 c.193+533G>A 0.705671 0.8383 0.6319 0.8292 0.95 T 0.000 P -0.967 T Uncertain 2_172379936_G->A 2 172379936 172379936 G A snp 1941.77 1/1 99 57 0 57 1.0 intronic rs960748 CYBRD1 AU NM_024843 exon1 c.193+688G>A 0.707668 0.8413 Uncertain 2_172397977_A->C 2 172397977 172397977 A C snp 594.77 0/1 99 30 10 20 0.67 intronic CYBRD1 AU NM_024843 exon2 c.19039-117A>C Uncertain 2_172398311_T->C 2 172398311 172398311 T C snp 1213.77 1/1 90 38 0 38 1.0 intronic rs7586144 CYBRD1 AU NM_024843 exon2 c.19248+8T>C 0.804313 0.9038 0.760803 0.7535 0.9072 Uncertain 2_172410874_C->T 2 172410874 172410874 C T snp 96.28 1/1 9 3 0 3 1.0 intronic rs2111719 CYBRD1 AU NM_024843 exon4 c.31978-159C>T 0.995208 1 Uncertain 2_172549248_A->G 2 172549248 172549248 A G snp 260.8 1/1 21 9 0 9 1.0 intronic rs6433311 DYNC1I2 AU NM_001271786 exon3 c.2621-38A>G 0.718251 0.8075 0.684431 0.7732 0.8456 Uncertain 2_172582281_-->TTAC 2 172582281 172582281 - TTAC indel 1950.73 1/1 87 31 0 31 1.0 intronic rs111251725 DYNC1I2 AU NM_001271786 exon6 c.35558+58insTTAC 0.997204 1 Uncertain 2_172586567_G->A 2 172586567 172586567 G A snp 141.03 1/1 12 4 0 4 1.0 intronic rs2292814 DYNC1I2 AU NM_001271786 exon13 c.39698+204G>A 0.78734 0.9107 Uncertain 2_172600716_C->A 2 172600716 172600716 C A snp 386.77 1/1 30 13 0 13 1.0 intronic rs12619041 DYNC1I2 AU NM_001271786 exon14 c.54034+17C>A 0.267372 0.5635 0.193014 0.2616 0.5421 Uncertain 2_172644229_T->C 2 172644229 172644229 T C snp 4420.77 1/1 99 142 0 142 1.0 intronic rs2292813 SLC25A12 AR NM_003705 exon2 c.2388+58T>C 0.791534 0.9157 Uncertain 2_172683481_A->C 2 172683481 172683481 A C snp 54.74 1/1 6 2 0 2 1.0 intronic rs17615262 SLC25A12 AR NM_003705 exon10 c.41609+89A>C 0.269369 0.5694 Uncertain 2_172690418_C->T 2 172690418 172690418 C T snp 354.78 1/1 27 11 0 11 1.0 intronic rs3736499 SLC25A12 AR NM_003705 exon11 c.48689-54C>T 0.261182 0.5645 Uncertain 2_172693780_G->A 2 172693780 172693780 G A snp 7123.77 1/1 99 249 2 247 0.99 splicing rs3765166 SLC25A12 AR NM_003705 exon13 c.51994+3G>A 0.267372 0.5675 0.204829 0.2671 0.5709 Pathogenic 2_172693944_A->G 2 172693944 172693944 A G snp 602.77 1/1 45 16 0 16 1.0 intronic rs3765167 SLC25A12 AR NM_003705 exon13 c.51994+167A>G 0.267971 0.5694 Uncertain 2_172709215_G->C 2 172709215 172709215 G C snp 1598.77 1/1 99 60 0 60 1.0 intronic rs3770444 SLC25A12 AR NM_003705 exon15 c.70560-3128G>C 0.790136 0.9157 0.8637 0.9167 Uncertain 2_172712480_T->C 2 172712480 172712480 T C snp 4123.77 1/1 99 148 1 147 0.99 intronic rs2056202 SLC25A12 AR NM_003705 exon15 c.70676+21T>C 0.757987 0.8998 0.776872 0.8097 0.8871 Uncertain 2_172725301_A->G 2 172725301 172725301 A G snp 5162.77 1/1 99 193 1 192 0.99 exonic rs1878583 SLC25A12 AR synonymous SNV NM_003705 exon3 c.T99C p.Y33Y 0.790935 0.9157 0.814701 0.8567 0.9015 Uncertain 2_172750463_C->T 2 172750463 172750463 C T snp 54.74 1/1 6 2 0 2 1.0 intronic rs143712437 SLC25A12 AR NM_003705 exon18 c.108929-249C>T 0.0123802 0.0605 Uncertain 2_172821739_G->T 2 172821739 172821739 G T snp 393.77 1/1 30 10 0 10 1.0 intronic rs1982288 HAT1 AU NM_003642 exon5 c.42848-119G>T 0.789936 0.9187 Uncertain 2_172926226_G->T 2 172926226 172926226 G T snp 1120.77 0/1 99 93 46 47 0.51 exonic rs10497377 METAP1D AU nonsynonymous SNV NM_199227 exon2 c.G41T p.G14V 0.107827 0.4355 0.009227 0.0558 0.4616 1.000 P -0.953 T 0.965 D 0.497 D Pathogenic 2_172930550_T->G 2 172930550 172930550 T G snp 681.77 0/1 99 47 24 23 0.49 intronic rs17615589 METAP1D AU NM_199227 exon4 c.65604+70T>G 0.109625 0.4355 Uncertain 2_172942448_A->C 2 172942448 172942448 A C snp 76.77 0/1 99 7 3 4 0.57 intronic rs3796058 METAP1D AU NM_199227 exon7 c.77648-76A>C 0.22484 0.4772 Uncertain 2_172944021_G->A 2 172944021 172944021 G A snp 1154.77 0/1 99 101 52 49 0.49 intronic rs368216426 METAP1D AU NM_199227 exon8 c.79114+31G>A 5.78e-05 0.0003 Uncertain 2_172952532_A->C 2 172952532 172952532 A C snp 459.77 1/1 36 12 0 12 1.0 intronic rs705868 DLX1 AU NM_001038493 exon2 c.2325-198A>C 0.979633 1 Uncertain 2_172966250_T->C 2 172966250 172966250 T C snp 1351.77 0/1 99 107 53 54 0.5 exonic rs2228184 DLX2 AU synonymous SNV NM_004405 exon2 c.A525G p.Q175Q 0.358826 0.6587 0.314163 0.4103 0.6359 Uncertain 2_173292709_A->G 2 173292709 173292709 A G snp 4031.77 1/1 99 150 0 150 1.0 intronic rs6744873 ITGA6 AR NM_000210 exon1 c.182+11A>G 0.500599 0.8839 0.320797 0.3560 0.8774 Uncertain 2_173292713_C->T 2 173292713 173292713 C T snp 3693.77 1/1 99 137 0 137 1.0 intronic rs6716540 ITGA6 AR NM_000210 exon1 c.182+15C>T 0.489018 0.8591 0.317462 0.3463 0.8539 Uncertain 2_173292728_T->C 2 173292728 173292728 T C snp 3228.29 1/1 99 114 0 114 1.0 intronic rs6731763 ITGA6 AR NM_000210 exon1 c.182+30T>C 0.499401 0.8829 0.307218 0.3573 0.8830 Uncertain 2_173330549_T->G 2 173330549 173330549 T G snp 136.03 1/1 12 4 0 4 1.0 intronic rs3749148 ITGA6 AR NM_000210 exon2 c.37875+158T>G 0.296925 0.5337 Uncertain 2_173332115_G->A 2 173332115 173332115 G A snp 3260.77 1/1 99 129 1 128 0.99 intronic rs2272499 ITGA6 AR NM_000210 exon3 c.39692-93G>A 0.572085 0.8274 Uncertain 2_173334161_-->ATGATTTAGTACC 2 173334161 173334161 - ATGATTTAGTACC indel 3395.73 1/1 78 33 0 33 1.0 intronic rs147116420 ITGA6 AR NM_000210 exon4 c.41592+53insATGATTTAGTACC 0.604034 0.8373 Uncertain 2_173335948_C->- 2 173335948 173335948 C - indel 213.73 0/1 99 14 6 8 0.57 intronic ITGA6 AR NM_000210 exon5 c.43317+115delC Uncertain 2_173337495_C->T 2 173337495 173337495 C T snp 4030.77 1/1 99 144 0 144 1.0 intronic rs16860497 ITGA6 AR NM_000210 exon6 c.46266-1287C>T 0.270367 0.7282 0.087897 0.1919 0.7275 Uncertain 2_173337681_G->T 2 173337681 173337681 G T snp 1083.77 1/1 78 40 0 40 1.0 intronic rs16860498 ITGA6 AR NM_000210 exon6 c.46266-1101G>T 0.196685 0.5069 Uncertain 2_173340198_A->C 2 173340198 173340198 A C snp 242.8 1/1 21 7 0 7 1.0 intronic rs3792257 ITGA6 AR NM_000210 exon8 c.47808-126A>C 0.1877 0.5188 Uncertain 2_173344474_A->G 2 173344474 173344474 A G snp 844.77 0/1 99 84 46 38 0.45 intronic rs1920979 ITGA6 AR NM_000210 exon10 c.51951+7A>G 0.407149 0.3512 0.408119 0.3710 0.3600 Uncertain 2_173344680_A->C 2 173344680 173344680 A C snp 1019.77 0/1 99 88 45 43 0.49 intronic rs2293647 ITGA6 AR NM_000210 exon11 c.52201-37A>C 0.0734824 0.2202 0.040680 0.0635 0.2206 Uncertain 2_173352103_C->T 2 173352103 173352103 C T snp 3097.77 0/1 99 250 131 119 0.48 exonic rs2293649 ITGA6 AR synonymous SNV NM_000210 exon15 c.C2082T p.D694D 0.346645 0.5417 0.212825 0.2974 0.5436 Uncertain 2_173352157_A->T 2 173352157 173352157 A T snp 3501.77 0/1 99 249 114 135 0.54 exonic rs2293648 ITGA6 AR synonymous SNV NM_000210 exon15 c.A2136T p.A712A 0.0870607 0.2599 0.040981 0.0710 0.2709 Uncertain 2_173352824_C->T 2 173352824 173352824 C T snp 1789.77 0/1 99 184 97 87 0.47 intronic rs10930559 ITGA6 AR NM_000210 exon19 c.60337-29C>T 0.0888578 0.2599 0.041673 0.0712 0.2705 Uncertain 2_173353000_-->T 2 173353000 173353000 - T indel 1785.73 0/1 99 99 48 51 0.52 intronic rs138348628 ITGA6 AR NM_000210 exon19 c.60440+44insT 0.117812 0.2609 0.070117 0.0786 0.2699 Uncertain 2_173353060_G->A 2 173353060 173353060 G A snp 932.77 1/1 69 25 0 25 1.0 intronic rs1319059 ITGA6 AR NM_000210 exon19 c.60440+104G>A 0.653754 0.8591 Uncertain 2_173355907_A->C 2 173355907 173355907 A C snp 2110.77 0/1 99 181 86 95 0.52 intronic rs56084828 ITGA6 AR NM_000210 exon22 c.63432-41A>C 0.183307 0.504 0.030217 0.1229 0.5097 Uncertain 2_173421249_C->T 2 173421249 173421249 C T snp 35.77 0/1 64 4 2 2 0.5 intronic rs10930561 PDK1 AU NM_002610 exon1 c.196+175C>T 0.0764776 0.2222 Uncertain 2_173428872_CTC->- 2 173428872 173428874 CTC - indel 3394.73 0/1 99 161 79 82 0.51 intronic rs72296958 PDK1 AU NM_002610 exon4 c.8352-358_8352-356delCTC 0.192093 0.5159 Uncertain 2_173460803_A->G 2 173460803 173460803 A G snp 161.77 0/1 99 20 13 7 0.35 UTR3 rs1530864 PDK1 AU 0.0798722 0.2222 Uncertain 2_173600783_-->G 2 173600783 173600783 - G indel 2082.73 1/1 99 50 0 50 1.0 ncRNA_intronic rs34574292 RAPGEF4-AS1 AU 1 1 0.999613 1 1 Uncertain 2_173659913_T->C 2 173659913 173659913 T C snp 1056.77 1/1 78 34 0 34 1.0 intronic rs7585729 RAPGEF4 AU NM_007023 exon2 c.59184+18T>C 0.970248 1 0.971690 0.9917 1 Uncertain 2_173782154_T->C 2 173782154 173782154 T C snp 311.77 0/1 99 34 17 17 0.5 intronic rs190695640 RAPGEF4 AU NM_001100397 exon2 c.95837-375T>C 0.00159744 0.0079 0.0008 0.0104 Uncertain 2_173793097_A->- 2 173793097 173793097 A - indel 268.73 0/1 94 14 3 11 0.79 intronic rs3835838 RAPGEF4 AU NM_001100397 exon3 c.100336+6069delA 0.61262 0.7123 Uncertain 2_173793102_C->T 2 173793102 173793102 C T snp 224.77 0/1 55 9 2 7 0.78 intronic rs3769259 RAPGEF4 AU NM_001100397 exon3 c.100336+6074C>T 0.463458 0.6915 Uncertain 2_173831934_C->T 2 173831934 173831934 C T snp 162.77 0/1 99 19 9 10 0.53 intronic rs16861098 RAPGEF4 AU NM_001100397 exon7 c.145296-54C>T 0.162939 0.1597 Uncertain 2_173861340_G->A 2 173861340 173861340 G A snp 1697.77 0/1 99 183 104 79 0.43 intronic rs2290374 RAPGEF4 AU NM_001100397 exon13 c.174590+58G>A 0.420527 0.7877 0.348226 Uncertain 2_173861450_A->T 2 173861450 173861450 A T snp 909.77 0/1 99 67 33 34 0.51 intronic rs2290375 RAPGEF4 AU NM_001100397 exon13 c.174590+168A>T 0.420327 0.7877 Uncertain 2_173861456_G->C 2 173861456 173861456 G C snp 2039.77 1/1 99 61 0 61 1.0 intronic rs5010643 RAPGEF4 AU NM_001100397 exon13 c.174590+174G>C 0.915735 1 Uncertain 2_173865976_-->T 2 173865976 173865976 - T indel 2620.73 0/1 99 208 104 104 0.5 intronic rs3214814 RAPGEF4 AU NM_001100397 exon14 c.179301-17insT 0.242412 0.1181 0.3069 0.1123 Uncertain 2_173866203_C->T 2 173866203 173866203 C T snp 2071.77 1/1 99 59 0 59 1.0 intronic rs2028934 RAPGEF4 AU NM_001100397 exon14 c.179380+131C>T 0.653355 0.9087 Uncertain 2_173880912_G->C 2 173880912 173880912 G C snp 74.77 0/1 99 7 4 3 0.43 intronic rs3769225 RAPGEF4 AU NM_001100397 exon16 c.194384-164G>C 0.0597045 0.1171 Uncertain 2_173882350_A->G 2 173882350 173882350 A G snp 243.84 0/1 18 8 1 7 0.88 intronic rs2305461 RAPGEF4 AU NM_001100397 exon18 c.195540+118A>G 0.0601038 0.1181 Uncertain 2_173883549_A->G 2 173883549 173883549 A G snp 843.77 0/1 99 62 36 26 0.42 intronic rs2242079 RAPGEF4 AU NM_001100397 exon19 c.196838+19A>G 0.0605032 0.1141 0.051523 0.0747 0.1067 Uncertain 2_173898719_G->A 2 173898719 173898719 G A snp 544.77 0/1 99 58 34 24 0.41 intronic rs2290376 RAPGEF4 AU NM_001100397 exon24 c.212000+27G>A 0.047524 0.0427 0.040152 0.0533 0.0582 Uncertain 2_173913258_G->A 2 173913258 173913258 G A snp 484.77 0/1 99 38 20 18 0.47 intronic rs2290378 RAPGEF4 AU NM_001100397 exon27 c.226635-69G>A 0.115216 0.371 0.064608 Uncertain 2_174068513_G->C 2 174068513 174068513 G C snp 4004.77 1/1 99 152 0 152 1.0 ncRNA_intronic rs11899707 MLK7-AS1 AU 0.983027 1 0.978241 0.9908 1 Uncertain 2_174074407_A->G 2 174074407 174074407 A G snp 302.77 0/1 99 19 8 11 0.58 ncRNA_exonic rs2289396 MLK7-AS1 AU 0.460064 0.2986 0.580809 0.5984 0.3089 Uncertain 2_174081790_C->T 2 174081790 174081790 C T snp 858.77 0/1 99 72 36 36 0.5 ncRNA_intronic rs6710789 MLK7-AS1 AU 0.0299521 0.0109 Uncertain 2_174082077_CCT->- 2 174082077 174082079 CCT - indel 389.73 0/1 99 15 4 11 0.73 ncRNA_intronic rs10556850 MLK7-AS1 AU 0.160743 0.5734 Uncertain 2_174082100_C->G 2 174082100 174082100 C G snp 158.77 0/1 99 8 3 5 0.63 ncRNA_intronic rs2289395 MLK7-AS1 AU 0.158147 0.5734 Uncertain 2_174094345_A->T 2 174094345 174094345 A T snp 346.77 0/1 99 68 50 18 0.26 ncRNA_intronic rs10193498 MLK7-AS1 AU 0.397165 0.625 0.307271 Uncertain 2_174097106_A->G 2 174097106 174097106 A G snp 5129.77 1/1 99 181 1 180 0.99 exonic rs16861406 ZAK AU synonymous SNV NM_016653 exon14 c.A1122G p.T374T 0.185104 0.5903 0.066007 0.1223 0.5755 Uncertain 2_174097317_C->T 2 174097317 174097317 C T snp 56.74 1/1 6 2 0 2 1.0 ncRNA_intronic rs41268711 MLK7-AS1 AU 0.0245607 0.0169 Uncertain 2_174103160_T->C 2 174103160 174103160 T C snp 2503.77 0/1 99 227 125 102 0.45 exonic rs3739103 ZAK AU synonymous SNV NM_016653 exon15 c.T1263C p.I421I 0.14976 0.5575 0.034865 0.0819 0.5426 Uncertain 2_174103366_T->C 2 174103366 174103366 T C snp 759.77 1/1 57 19 0 19 1.0 ncRNA_intronic rs3739102 MLK7-AS1 AU 0.734625 0.8452 Uncertain 2_174104358_T->C 2 174104358 174104358 T C snp 1010.77 0/1 99 75 37 38 0.51 ncRNA_intronic rs77541672 MLK7-AS1 AU 0.149561 0.5575 Uncertain 2_174123399_A->G 2 174123399 174123399 A G snp 226.77 0/1 91 11 4 7 0.64 ncRNA_intronic rs820008 MLK7-AS1 AU 0.703874 0.7887 0.742233 0.7227 0.7900 Uncertain 2_174123409_TTTTGT->- 2 174123409 174123414 TTTTGT - indel 545.73 0/1 99 12 5 7 0.58 ncRNA_intronic rs150855284 MLK7-AS1 AU 0.133387 0.4812 0.040035 0.0881 0.4424 Uncertain 2_174219773_G->C 2 174219773 174219773 G C snp 521.77 0/1 99 43 20 23 0.53 intronic rs28362634 CDCA7 AU NM_031942 exon1 c.21+61G>C 0.0605032 0.126 Uncertain 2_174224355_G->A 2 174224355 174224355 G A snp 433.77 1/1 33 11 0 11 1.0 intronic rs10168943 CDCA7 AU NM_031942 exon3 c.4528+136G>A 0.873802 0.9742 Uncertain 2_174227876_A->G 2 174227876 174227876 A G snp 845.77 0/1 99 56 24 32 0.57 intronic rs767074 CDCA7 AU NM_031942 exon4 c.8262-77A>G 0.377196 0.3036 Uncertain 2_174228257_C->G 2 174228257 174228257 C G snp 152.77 0/1 99 12 6 6 0.5 intronic rs2278638 CDCA7 AU NM_031942 exon4 c.8499+67C>G 0.0688898 0.1121 Uncertain 2_174228418_C->T 2 174228418 174228418 C T snp 1052.77 1/1 78 31 0 31 1.0 intronic rs4972555 CDCA7 AU NM_031942 exon5 c.8854-127C>T 0.85643 0.9742 Uncertain 2_174229731_A->G 2 174229731 174229731 A G snp 816.77 0/1 99 88 56 32 0.36 intronic rs13382180 CDCA7 AU NM_031942 exon6 c.10026+14A>G 0.209864 0.3036 0.094391 0.1093 0.3113 Uncertain 2_174230153_C->G 2 174230153 174230153 C G snp 1988.77 1/1 99 74 0 74 1.0 intronic rs2288993 CDCA7 AU NM_031942 exon7 c.10488-26C>G 0.874601 0.9742 0.841227 0.8633 0.9822 Uncertain 2_174230983_-->T 2 174230983 174230983 - T indel 733.73 1/1 78 26 0 26 1.0 intronic rs35959156 CDCA7 AU NM_031942 exon8 c.11319-27insT 0.855431 0.9742 0.818559 0.8536 0.9805 Uncertain 2_174231184_C->T 2 174231184 174231184 C T snp 823.77 0/1 99 91 53 38 0.42 intronic rs62175733 CDCA7 AU NM_031942 exon8 c.11469+24C>T 0.0692891 0.1121 0.054206 0.0750 0.1227 Uncertain 2_174232076_G->A 2 174232076 174232076 G A snp 152.77 0/1 99 16 10 6 0.38 intronic rs3816061 CDCA7 AU NM_031942 exon9 c.12323+62G>A 0.370407 0.3026 Uncertain 2_174232452_-->T 2 174232452 174232452 - T indel 1050.73 0/1 99 85 38 47 0.55 UTR3 rs139829082 CDCA7 AU 0.0700879 0.1141 0.053788 Uncertain 2_174232622_C->T 2 174232622 174232622 C T snp 96.28 1/1 9 3 0 3 1.0 UTR3 rs3210728 CDCA7 AU 0.874201 0.9742 Uncertain 2_174820750_T->C 2 174820750 174820750 T C snp 2701.77 0/1 99 250 148 102 0.41 exonic rs1047640 SP3 AU nonsynonymous SNV NM_001017371 exon2 c.A286G p.T96A 0.128794 0.3413 0.087959 0.1322 0.3017 1 T 0.977 P -0.925 T 0.001 T 0.002 T Pathogenic 2_174943876_C->T 2 174943876 174943876 C T snp 1183.77 1/1 84 43 0 43 1.0 intronic rs3754812 OLA1 AU NM_013341 exon2 c.3665+58C>T 0.447684 0.9375 Uncertain 2_174946985_T->C 2 174946985 174946985 T C snp 34.77 0/1 63 8 6 2 0.25 intronic rs10930635 OLA1 AU NM_013341 exon4 c.6639+193T>C 0.13778 0.2272 Uncertain 2_174987794_A->G 2 174987794 174987794 A G snp 573.77 0/1 99 43 19 24 0.56 intronic rs34684057 OLA1 AU NM_013341 exon5 c.47754-113A>G 0.211861 0.2232 Uncertain 2_175201299_C->G 2 175201299 175201299 C G snp 5489.77 1/1 99 203 1 202 1.0 exonic rs62174227 SP9 AU synonymous SNV NM_001145250 exon2 c.C486G p.G162G 0.320288 0.6478 0.3364 0.6172 Uncertain 2_175223296_T->A 2 175223296 175223296 T A snp 59.74 1/1 6 3 0 3 1.0 intronic rs4972650 CIR1 AU NM_004882 exon3 c.3229+6843T>A 0.605631 0.7897 0.6566 0.7969 Uncertain 2_175244756_T->C 2 175244756 175244756 T C snp 102.28 1/1 9 5 0 5 1.0 intronic rs2358666 CIR1 AU NM_004882 exon5 c.31705-173T>C 0.960663 1 Uncertain 2_175245628_ATC->- 2 175245628 175245630 ATC - indel 447.75 1/1 24 9 0 9 1.0 intronic rs138237113 CIR1 AU NM_004882 exon7 c.32318+86_32318+88delATC 0.333866 0.6935 0.169073 Uncertain 2_175262970_C->T 2 175262970 175262970 C T snp 43.77 0/1 72 6 3 3 0.5 intronic rs41270193 SCRN3 AU NM_001193528 exon2 c.2609-123C>T 0.174321 0.2133 0.179750 0.2309 0.2505 Uncertain 2_175263218_A->G 2 175263218 175263218 A G snp 160.77 0/1 99 35 27 8 0.23 intronic rs10930660 SCRN3 AU NM_001193528 exon2 c.2686+48A>G 0.336462 0.6925 0.180997 0.3114 0.6791 Uncertain 2_175264628_TTTT->- 2 175264628 175264631 TTTT - indel 632.73 0/1 99 23 9 14 0.61 intronic rs142446022 SCRN3 AU NM_001193528 exon3 c.4165-21_4165-18delTTTT 0.208267 0.2292 0.3162 0.3374 Uncertain 2_175268763_A->G 2 175268763 175268763 A G snp 186.77 0/1 99 12 6 6 0.5 intronic rs2358672 SCRN3 AU NM_001193528 exon5 c.8346-67A>G 0.161342 0.2133 Uncertain 2_175287778_G->A 2 175287778 175287778 G A snp 1059.77 0/1 99 87 39 48 0.55 splicing rs2290158 SCRN3 AU NM_001193528 exon6 c.27291+3G>A 0.160543 0.2133 0.197294 0.2178 0.2131 Pathogenic 2_175292581_TCAAATTTATCAG->- 2 175292581 175292593 TCAAATTTATCAG - indel 2952.73 0/1 99 77 36 41 0.53 exonic rs145699077 SCRN3 AU frameshift deletion NM_001193528 exon8 c.1212_1224del p.I404fs 0.212061 0.2113 0.258361 0.2799 0.2081 ID=COSM1163678,COSM1163677,COSM253915;OCCURENCE=1(haematopoietic_and_lymphoid_tissue),1(breast),1(urinary_tract),1(pancreas) Pathogenic 2_175300997_G->A 2 175300997 175300997 G A snp 2988.77 0/1 99 240 116 124 0.52 exonic rs6757461 GPR155 AU synonymous SNV NM_001267051 exon15 c.C2376T p.N792N 0.213658 0.2143 0.268184 0.2876 0.2149 Uncertain 2_175306804_C->G 2 175306804 175306804 C G snp 376.77 0/1 99 39 20 19 0.49 intronic rs7574442 GPR155 AU NM_001033045 exon3 c.6003-42C>G 0.335463 0.6935 0.179673 0.3146 0.6838 Uncertain 2_175310029_C->G 2 175310029 175310029 C G snp 54.74 1/1 6 2 0 2 1.0 intronic rs10168192 GPR155 AU NM_001033045 exon4 c.9061+125C>G 0.736222 0.9613 Uncertain 2_175311194_T->A 2 175311194 175311194 T A snp 136.03 1/1 12 4 0 4 1.0 intronic rs1562756 GPR155 AU NM_001033045 exon5 c.10495-144T>A 0.973842 1 Uncertain 2_175318590_G->T 2 175318590 175318590 G T snp 650.77 0/1 99 52 29 23 0.44 intronic rs12468711 GPR155 AU NM_001033045 exon6 c.17726+21G>T 0.325879 0.6815 0.174381 0.3038 0.6688 Uncertain 2_175330493_C->T 2 175330493 175330493 C T snp 150.77 0/1 99 27 17 10 0.37 intronic rs16862584 GPR155 AU NM_001033045 exon10 c.29669-19C>T 0.0277556 0.0923 0.000384 0.0129 0.0995 Uncertain 2_175335076_G->T 2 175335076 175335076 G T snp 750.77 1/1 57 21 0 21 1.0 intronic rs2358637 GPR155 AU NM_001033045 exon13 c.34274-41G>T 0.994409 1 0.995301 0.9988 1 Uncertain 2_175431707_C->G 2 175431707 175431707 C G snp 1340.77 1/1 96 44 0 44 1.0 intronic rs2163236 WIPF1 AU NM_001077269 exon2 c.4523-90C>G 0.528355 0.8492 Uncertain 2_175432056_G->A 2 175432056 175432056 G A snp 106.77 0/1 99 13 8 5 0.38 intronic rs2303891 WIPF1 AU NM_001077269 exon2 c.4637+145G>A 0.146565 0.2629 Uncertain 2_175436940_G->A 2 175436940 175436940 G A snp 2505.77 1/1 99 93 0 93 1.0 exonic rs4972450 WIPF1 AU nonsynonymous SNV NM_001077269 exon5 c.C593T p.P198L 0.907947 0.9881 0.923000 0.9411 0.9906 0.69 T 1.000 P -0.966 T 0.0 T 0.0 T Pathogenic 2_175439512_T->C 2 175439512 175439512 T C snp 3548.77 1/1 99 132 0 132 1.0 intronic rs1367218 WIPF1 AU NM_001077269 exon5 c.12657-419T>C 0.933906 0.9891 Uncertain 2_175439536_G->A 2 175439536 175439536 G A snp 4149.77 1/1 99 162 0 162 1.0 intronic rs12624277 WIPF1 AU NM_001077269 exon5 c.12657-395G>A 0.546526 0.8651 Uncertain 2_175439681_-->A 2 175439681 175439681 - A indel 949.73 0/1 39 73 9 64 0.88 intronic rs3049897 WIPF1 AU NM_001077269 exon5 c.12657-250insA 0.509185 0.6587 0.4131 0.5720 Uncertain 2_175446051_T->A 2 175446051 175446051 T A snp 1296.77 0/1 99 135 76 59 0.44 exonic rs776232891 WIPF1 AU synonymous SNV NM_001077269 exon3 c.A168T p.A56A 8.238e-06 0.0001 Uncertain 2_175613059_A->C 2 175613059 175613059 A C snp 379.77 1/1 30 11 0 11 1.0 intronic rs3816448 CHRNA1 AR,AD NM_000079 exon1 c.132+76A>C 0.366613 0.6577 Uncertain 2_175613115_G->A 2 175613115 175613115 G A snp 205.84 1/1 18 7 0 7 1.0 intronic rs2255918 CHRNA1 AR,AD NM_000079 exon1 c.132+132G>A 0.751797 0.874 Uncertain 2_175613600_T->C 2 175613600 175613600 T C snp 139.03 1/1 12 4 0 4 1.0 intronic rs2646159 CHRNA1 AR,AD NM_000079 exon2 c.696+53T>C 0.883187 1 Uncertain 2_175614909_AA->- 2 175614909 175614910 AA - indel 914.73 ./1 99 66 5 61 0.92 intronic rs139930312 CHRNA1 AR,AD NM_000079 exon3 c.2046+12_2046+13delAA 0.818091 0.9335 0.4985 0.5127 Uncertain 2_175614909_AAA->- 2 175614909 175614911 AAA - indel 914.73 ./1 99 66 5 61 0.92 intronic rs773734065 CHRNA1 AR,AD NM_000079 exon3 c.2046+12_2046+14delAAA 0.3334 0.3748 Uncertain 2_175622179_G->- 2 175622179 175622179 G - indel 491.73 1/1 39 13 0 13 1.0 intronic rs11327107 CHRNA1 AR,AD NM_000079 exon6 c.9442-114delG 0.73103 0.9385 Uncertain 2_175622788_G->A 2 175622788 175622788 G A snp 1514.77 1/1 99 60 0 60 1.0 intronic rs2646164 CHRNA1 AR,AD NM_001039523 exon7 c.9897+40G>A 0.998203 1 0.997770 0.9993 1 Uncertain 2_175622907_T->C 2 175622907 175622907 T C snp 175.9 1/1 15 7 0 7 1.0 intronic rs2600687 CHRNA1 AR,AD NM_001039523 exon7 c.9897+159T>C 0.902157 1 Uncertain 2_175666656_G->A 2 175666656 175666656 G A snp 272.77 0/1 99 18 8 10 0.56 intronic rs2646153 CHN1 AU NM_001822 exon2 c.1697+116G>A 0.567093 0.4276 Uncertain 2_175677022_C->T 2 175677022 175677022 C T snp 1389.77 0/1 99 100 45 55 0.55 intronic rs12613075 CHN1 AU NM_001822 exon5 c.12193-14C>T 0.336861 0.4633 0.359583 0.4335 0.4525 Uncertain 2_175711942_C->T 2 175711942 175711942 C T snp 1130.77 0/1 99 88 44 44 0.5 intronic rs14228 CHN1 AU NM_001822 exon7 c.46842+257C>T 0.376797 0.2937 Uncertain 2_175979684_A->G 2 175979684 175979684 A G snp 355.77 0/1 99 34 21 13 0.38 intronic rs62184471 ATF2 AU NM_001256094 exon1 c.183+88A>G 0.033746 0.0714 Uncertain 2_175991852_A->G 2 175991852 175991852 A G snp 44.74 1/1 6 3 1 2 0.67 intronic rs2698546 ATF2 AU NM_001256094 exon5 c.15452-3013A>G 0.921925 0.998 Uncertain 2_176044136_A->T 2 176044136 176044136 A T snp 56.74 1/1 6 2 0 2 1.0 intronic rs268224 ATP5G3 AU NM_001689 exon2 c.963+158A>T 0.735823 0.8542 Uncertain 2_176045832_C->A 2 176045832 176045832 C A snp 750.77 1/1 57 21 0 21 1.0 intronic rs268226 ATP5G3 AU NM_001689 exon4 c.3067-250C>A 0.990016 1 Uncertain 2_176046257_C->T 2 176046257 176046257 C T snp 139.03 1/1 12 4 0 4 1.0 UTR5 rs268227 ATP5G3 AU 0.776558 0.8522 Uncertain 2_176866967_C->T 2 176866967 176866967 C T snp 495.77 0/1 99 55 32 23 0.42 exonic rs935492 KIAA1715 AU nonsynonymous SNV NM_001305008 exon1 c.G52A p.A18T 0.190895 0.2262 0.3435 0.2015 0 D 0.002 P -1.060 T 0.419 T 0.093 T Pathogenic 2_177202115_A->G 2 177202115 177202115 A G snp 477.77 0/1 99 34 19 15 0.44 intronic rs818364 MTX2 AU NM_006554 exon10 c.67863-105A>G 0.519569 0.4752 Uncertain 2_178085137_G->A 2 178085137 178085137 G A snp 635.77 0/1 99 59 31 28 0.47 UTR3 rs9068 HNRNPA3 AU 0.657748 0.7659 Uncertain 2_178129391_GGC->- 2 178129391 178129393 GGC - indel 1144.73 0/1 99 71 23 48 0.68 UTR5 rs143406266 NFE2L2 AU 0.396765 0.5843 Uncertain 2_178301428_C->T 2 178301428 178301428 C T snp 267.8 1/1 21 8 0 8 1.0 intronic rs3754989 AGPS AR NM_003659 exon4 c.43974-63C>T 0.885383 0.9395 Uncertain 2_178326838_C->G 2 178326838 178326838 C G snp 99.28 1/1 9 3 0 3 1.0 intronic rs1979059 AGPS AR NM_003659 exon9 c.69229+92C>G 0.895168 0.9782 Uncertain 2_178326847_G->A 2 178326847 178326847 G A snp 56.74 1/1 6 2 0 2 1.0 intronic rs1979058 AGPS AR NM_003659 exon9 c.69229+101G>A 0.613618 0.6419 Uncertain 2_178346928_T->A 2 178346928 178346928 T A snp 157.77 0/1 99 11 4 7 0.64 intronic rs60463897 AGPS AR NM_003659 exon11 c.89397+14T>A 0.00179712 0.005 0.000472 0.0012 0.0139 Uncertain 2_178358072_C->T 2 178358072 178358072 C T snp 662.77 1/1 48 23 0 23 1.0 intronic rs1348849 AGPS AR NM_003659 exon12 c.100410+145C>T 0.683906 0.6419 Uncertain 2_178362572_G->A 2 178362572 178362572 G A snp 831.77 1/1 60 28 0 28 1.0 intronic rs12468046 AGPS AR NM_003659 exon13 c.104976+79G>A 0.902556 0.9782 Uncertain 2_178378452_T->A 2 178378452 178378452 T A snp 396.77 1/1 30 11 0 11 1.0 intronic rs2364854 AGPS AR NM_003659 exon17 c.121029-94T>A 0.542332 0.6319 Uncertain 2_178417142_C->T 2 178417142 178417142 C T snp 4354.77 1/1 99 129 0 129 1.0 exonic rs11694988 TTC30B AU nonsynonymous SNV NM_152517 exon1 c.G350A p.R117H 0.890575 0.9742 0.851838 0.8632 0.9782 0.12 T 0.999 P -0.995 T 0.944 T 0.416 D Pathogenic 2_178417225_C->T 2 178417225 178417225 C T snp 2430.77 1/1 99 71 0 71 1.0 exonic rs11695035 TTC30B AU synonymous SNV NM_152517 exon1 c.G267A p.L89L 0.890575 0.9742 0.852177 0.8643 0.9782 Uncertain 2_178481818_G->T 2 178481818 178481818 G T snp 6579.77 1/1 99 249 0 249 1.0 exonic rs10497497 TTC30A AU synonymous SNV NM_152275 exon1 c.C1612A p.R538R 0.900559 0.9752 0.861987 0.8797 0.9822 Uncertain 2_178482094_C->T 2 178482094 178482094 C T snp 1237.77 1/1 96 35 0 35 1.0 exonic rs28630685 TTC30A AU nonsynonymous SNV NM_152275 exon1 c.G1336A p.V446I 0.8704 0.9796 1 T 0.000 P -0.941 T 0.0 T 0.0 T Pathogenic 2_178494012_C->G 2 178494012 178494012 C G snp 54.74 1/1 6 2 0 2 1.0 UTR3 rs6734683 PDE11A AD 0.660144 0.8641 Uncertain 2_178494173_-->GGA 2 178494173 178494173 - GGA indel 3629.73 1/1 99 69 0 69 1.0 exonic rs3830637 PDE11A AD nonframeshift insertion NM_016953 exon20 c.2763_2764insTCC p.P922delinsSP 0.58766 0.7014 0.594554 0.6933 0.6932 Uncertain 2_178528703_C->T 2 178528703 178528703 C T snp 4246.77 1/1 99 146 0 146 1.0 intronic rs13025391 PDE11A AD NM_001077358 exon2 c.34543+26C>T 0.832069 0.9742 0.793172 0.8593 0.9816 Uncertain 2_178528789_G->A 2 178528789 178528789 G A snp 1496.77 1/1 99 53 0 53 1.0 intronic rs13025904 PDE11A AD NM_001077358 exon2 c.34543+112G>A 0.832069 0.9742 Uncertain 2_178528874_T->C 2 178528874 178528874 T C snp 139.03 1/1 12 4 0 4 1.0 intronic rs3770005 PDE11A AD NM_001077358 exon2 c.34543+197T>C 0.553315 0.7004 Uncertain 2_178534110_G->T 2 178534110 178534110 G T snp 615.77 1/1 48 17 0 17 1.0 intronic rs2222711 PDE11A AD NM_001077358 exon3 c.40086-110G>T 0.653355 0.7113 Uncertain 2_178534324_A->G 2 178534324 178534324 A G snp 3891.77 1/1 99 141 0 141 1.0 intronic rs6433687 PDE11A AD NM_001077358 exon3 c.40161+29A>G 0.829473 0.9742 0.789789 0.8575 0.9818 Uncertain 2_178540293_A->G 2 178540293 178540293 A G snp 2549.77 1/1 99 92 0 92 1.0 intronic rs3770016 PDE11A AD NM_001077358 exon4 c.46112+47A>G 0.704872 0.8423 0.693449 0.8018 0.8618 Uncertain 2_178545403_T->C 2 178545403 178545403 T C snp 128.03 1/1 12 4 0 4 1.0 intronic rs2886423 PDE11A AD NM_001077358 exon5 c.51419-150T>C 0.842851 0.8304 Uncertain 2_178545713_C->T 2 178545713 178545713 C T snp 768.77 1/1 57 22 0 22 1.0 intronic rs4538242 PDE11A AD NM_001077358 exon5 c.51497+82C>T 0.999201 1 Uncertain 2_178561865_T->C 2 178561865 178561865 T C snp 56.74 1/1 6 2 0 2 1.0 intronic rs2365623 PDE11A AD NM_001077358 exon6 c.67925-194T>C 0.919928 1 Uncertain 2_178561947_G->C 2 178561947 178561947 G C snp 2220.77 1/1 99 75 0 75 1.0 intronic rs2886424 PDE11A AD NM_001077358 exon6 c.67925-112G>C 0.778355 0.7937 Uncertain 2_178562032_G->T 2 178562032 178562032 G T snp 2135.77 0/1 99 195 100 95 0.49 intronic rs3731808 PDE11A AD NM_001077358 exon6 c.67925-27G>T 0.0561102 0.1032 0.005305 0.0527 0.1232 Uncertain 2_178565815_T->C 2 178565815 178565815 T C snp 1538.77 1/1 99 60 0 60 1.0 intronic rs10201180 PDE11A AD NM_001077358 exon7 c.71714-33T>C 0.761781 0.8204 0.761725 0.7733 0.8353 Uncertain 2_178565977_G->A 2 178565977 178565977 G A snp 361.77 0/1 99 24 9 15 0.63 intronic rs377073807 PDE11A AD NM_001077358 exon7 c.71805+38G>A 0.000154 0.0002 0 Uncertain 2_178681447_C->A 2 178681447 178681447 C A snp 612.77 0/1 99 56 29 27 0.48 intronic rs6433697 PDE11A AD NM_001077358 exon12 c.187421-108C>A 0.418331 0.3056 Uncertain 2_178681534_C->T 2 178681534 178681534 C T snp 1253.77 0/1 99 169 106 63 0.37 intronic rs6433698 PDE11A AD NM_001077358 exon12 c.187421-21C>T 0.418131 0.3056 0.424804 0.3335 0.3169 Uncertain 2_178681716_G->C 2 178681716 178681716 G C snp 777.77 0/1 99 53 26 27 0.51 intronic rs1438059 PDE11A AD NM_001077358 exon12 c.187514+68G>C 0.420727 0.6062 Uncertain 2_178682558_-->TATAAAC 2 178682558 178682558 - TATAAAC indel 2841.73 0/1 99 94 64 30 0.32 intronic rs3841879 PDE11A AD NM_001077358 exon13 c.188450-26insTATAAAC 0.417532 0.3056 0.404145 0.3267 0.3067 Uncertain 2_178682603_T->C 2 178682603 178682603 T C snp 1462.77 0/1 99 168 100 68 0.4 exonic rs6720891 PDE11A AD synonymous SNV NM_016953 exon8 c.A1626G p.A542A 0.418131 0.3056 0.423189 0.3339 0.3163 1.000 P -0.950 T Likely benign 2_178682655_A->G 2 178682655 178682655 A G snp 1793.77 0/1 99 181 99 82 0.45 splicing rs3821010 PDE11A AD NM_001077358 exon13 c.188518+3A>G 0.418131 0.3056 0.424639 0.3357 0.3187 Pathogenic 2_178684820_G->A 2 178684820 178684820 G A snp 76.77 0/1 99 13 8 5 0.38 intronic rs41440047 PDE11A AD NM_001077358 exon14 c.190812-126G>A 0.417732 0.3046 Uncertain 2_178684878_-->AG 2 178684878 178684878 - AG indel 550.73 0/1 99 31 17 14 0.45 intronic rs144786387 PDE11A AD NM_001077358 exon14 c.190812-68insAG 0.284944 0.1935 Uncertain 2_178684879_T->G 2 178684879 178684879 T G snp 262.77 0/1 99 32 18 14 0.44 intronic rs58796031 PDE11A AD NM_001077358 exon14 c.190812-67T>G 0.284944 0.1935 Uncertain 2_178684921_G->A 2 178684921 178684921 G A snp 369.77 0/1 99 47 28 19 0.4 intronic rs13386827 PDE11A AD NM_001077358 exon14 c.190812-25G>A 0.285343 0.1935 0.303110 0.2441 0.2028 Uncertain 2_178769992_T->C 2 178769992 178769992 T C snp 1906.77 1/1 99 63 0 63 1.0 intronic rs2695096 PDE11A AD NM_001077358 exon18 c.275780+78T>C 0.971246 1 Uncertain 2_178936373_T->G 2 178936373 178936373 T G snp 3589.77 1/1 99 126 0 126 1.0 exonic rs1435573 PDE11A AD synonymous SNV NM_016953 exon1 c.A792C p.T264T 0.88738 0.999 0.833846 0.8740 0.9998 Uncertain 2_178936614_C->T 2 178936614 178936614 C T snp 6653.77 1/1 99 240 0 240 1.0 exonic rs6433711 PDE11A AD nonsynonymous SNV NM_016953 exon1 c.G551A p.R184Q 0.990216 0.999 0.992619 0.9980 0.9993 1 T 1.0 P -0.939 T 0.0 T 0.0 T Pathogenic 2_178977620_C->G 2 178977620 178977620 C G snp 2088.77 1/1 99 61 0 61 1.0 intronic rs2276622 RBM45 AU NM_152945 exon1 c.300+47C>G 0.341054 0.5714 0.287399 0.4060 0.5827 Uncertain 2_179203797_G->A 2 179203797 179203797 G A snp 4788.77 1/1 99 176 1 175 0.99 exonic rs1434087 OSBPL6 AU synonymous SNV NM_145739 exon8 c.G807A p.S269S 0.920927 0.9663 0.905044 0.9283 0.9681 Uncertain 2_179226290_T->C 2 179226290 179226290 T C snp 775.77 1/1 57 24 0 24 1.0 intronic rs1560871 OSBPL6 AU NM_001201481 exon12 c.55497-118T>C 0.823682 1 Uncertain 2_179236831_A->G 2 179236831 179236831 A G snp 1921.77 1/1 99 72 0 72 1.0 intronic rs6433724 OSBPL6 AU NM_001201481 exon13 c.65941-21A>G 0.629992 0.88 0.530837 0.5695 0.8819 Uncertain 2_179238507_T->C 2 179238507 179238507 T C snp 1442.77 1/1 99 47 0 47 1.0 intronic rs7595571 OSBPL6 AU NM_001201481 exon14 c.67705-109T>C 0.824081 1 Uncertain 2_179238841_A->G 2 179238841 179238841 A G snp 222.84 1/1 18 6 0 6 1.0 intronic rs10190530 OSBPL6 AU NM_001201481 exon14 c.67843+87A>G 0.63139 0.88 Uncertain 2_179251630_C->A 2 179251630 179251630 C A snp 40.74 1/1 6 2 0 2 1.0 ncRNA_intronic rs10930830 MIR548N AU 0.244808 0.4127 Uncertain 2_179258923_C->T 2 179258923 179258923 C T snp 139.03 1/1 12 4 0 4 1.0 ncRNA_intronic rs919177 MIR548N AU 0.578874 0.7431 Uncertain 2_179296821_G->A 2 179296821 179296821 G A snp 2265.77 0/1 99 203 103 100 0.49 ncRNA_intronic rs3997876 LOC101927027 AU 0.209749 0.2450 0.2796 Uncertain 2_179300971_G->A 2 179300971 179300971 G A snp 3122.77 0/1 99 247 132 115 0.47 exonic rs62176107 PRKRA AR synonymous SNV NM_003690 exon7 c.C685T p.L229L 0.2420 0.2780 Uncertain 2_179309165_G->A 2 179309165 179309165 G A snp 3037.77 0/1 99 211 105 106 0.5 exonic rs75862065 PRKRA AR nonsynonymous SNV NM_003690 exon4 c.C380T p.P127L 0.0980 0.1311 0.01 T 1 D -0.398 T 1.0 D 0.993 D Pathogenic 2_179312440_-->TAC 2 179312440 179312440 - TAC indel 734.73 1/1 39 14 0 14 1.0 ncRNA_intronic rs150523431 MIR548N AU 0.411941 0.6567 Uncertain 2_179315781_C->T 2 179315781 179315781 C T snp 2266.77 0/1 99 162 73 89 0.55 ncRNA_intronic rs62176113 MIR548N AU 0.7244 0.8667 Uncertain 2_179315890_G->C 2 179315890 179315890 G C snp 469.77 0/1 99 47 31 16 0.34 ncRNA_intronic rs80197731 MIR548N AU Uncertain 2_179319391_G->A 2 179319391 179319391 G A snp 93.28 1/1 9 3 0 3 1.0 ncRNA_intronic rs6753709 MIR548N AU 0.404353 0.6548 0.270039 Uncertain 2_179321040_A->- 2 179321040 179321040 A - indel 109.87 1/1 15 5 0 5 1.0 ncRNA_intronic rs80082011 MIR548N AU Uncertain 2_179324025_C->T 2 179324025 179324025 C T snp 2299.77 1/1 99 81 0 81 1.0 ncRNA_intronic rs7600176 MIR548N AU 0.403954 0.6567 Uncertain 2_179330469_A->- 2 179330469 179330469 A - indel 246.74 1/1 30 11 0 11 1.0 ncRNA_intronic rs11336824 MIR548N AU 0.429113 0.6637 0.309824 0.4295 0.6709 ID=COSN229956;OCCURENCE=1(NS) Uncertain 2_179341953_G->A 2 179341953 179341953 G A snp 3262.77 1/1 99 116 0 116 1.0 ncRNA_intronic rs6704545 MIR548N AU 0.433906 0.6736 0.312164 0.2920 0.6518 Uncertain 2_179343363_C->T 2 179343363 179343363 C T snp 202.77 0/1 99 12 4 8 0.67 ncRNA_intronic rs116486452 MIR548N AU 0.0165735 0.0417 Uncertain 2_179358665_A->G 2 179358665 179358665 A G snp 1628.77 0/1 99 161 88 73 0.45 exonic rs2303536 PLEKHA3 AU synonymous SNV NM_019091 exon4 c.A399G p.T133T 0.304912 0.63 0.165616 0.2148 0.6070 Uncertain 2_179363807_-->T 2 179363807 179363807 - T indel 108.87 1/1 15 5 0 5 1.0 ncRNA_intronic rs3214536 MIR548N AU 0.745607 0.7371 0.711395 Uncertain 2_179366093_C->T 2 179366093 179366093 C T snp 693.77 1/1 51 22 0 22 1.0 ncRNA_intronic rs2303537 MIR548N AU 0.552915 0.6984 Uncertain 2_179367086_A->G 2 179367086 179367086 A G snp 1192.77 1/1 84 45 0 45 1.0 ncRNA_intronic rs967507 MIR548N AU 0.407348 0.6696 0.3062 0.6596 0.45 T 0.0 P -0.960 T Uncertain 2_179368380_G->A 2 179368380 179368380 G A snp 723.77 0/1 99 60 33 27 0.45 ncRNA_intronic rs16866352 MIR548N AU 0.171526 0.4772 Uncertain 2_179392080_A->T 2 179392080 179392080 A T snp 1687.77 0/1 99 152 87 65 0.43 ncRNA_intronic rs16866373 MIR548N AU 0.209065 0.4504 0.124576 0.1768 0.4400 Uncertain 2_179395958_T->C 2 179395958 179395958 T C snp 6737.77 1/1 99 233 0 233 1.0 exonic rs3813250 TTN AU,AD,AR synonymous SNV NM_003319 exon186 c.A78189G p.A26063A 0.508187 0.7123 0.319435 0.3518 0.6951 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=criteria_provided\x2c_multiple_submitters\x2c_no_conflicts|criteria_provided\x2c_single_submitter;CLNACC=RCV000040958.6|RCV000125990.1;CLNDSDB=MedGen|MedGen;CLNDSDBID=CN169374|CN221809 Uncertain 2_179396354_G->A 2 179396354 179396354 G A snp 1075.77 0/1 99 121 74 47 0.39 exonic rs3829748 TTN AU,AD,AR synonymous SNV NM_003319 exon186 c.C77793T p.V25931V 0.231829 0.4504 0.141966 0.1824 0.4341 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=criteria_provided\x2c_multiple_submitters\x2c_no_conflicts|criteria_provided\x2c_single_submitter;CLNACC=RCV000040950.6|RCV000125987.1;CLNDSDB=MedGen|MedGen;CLNDSDBID=CN169374|CN221809 Uncertain 2_179397561_C->T 2 179397561 179397561 C T snp 2847.77 0/1 99 214 95 119 0.56 exonic rs3829747 TTN AU,AD,AR nonsynonymous SNV NM_003319 exon186 c.G76586A p.R25529H 0.208666 0.4484 0.121444 0.1753 0.4339 0 D 1.000 P -0.963 T 1.0 D 0.996 D CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=criteria_provided\x2c_multiple_submitters\x2c_no_conflicts|criteria_provided\x2c_single_submitter;CLNACC=RCV000040932.7|RCV000125981.1;CLNDSDB=MedGen|MedGen;CLNDSDBID=CN169374|CN221809 Pathogenic 2_179398823_G->A 2 179398823 179398823 G A snp 2748.77 0/1 99 239 126 113 0.47 exonic rs2857265 TTN AU,AD,AR synonymous SNV NM_003319 exon186 c.C75324T p.G25108G 0.232029 0.4514 0.144873 0.1823 0.4329 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=criteria_provided\x2c_multiple_submitters\x2c_no_conflicts|criteria_provided\x2c_single_submitter;CLNACC=RCV000040919.6|RCV000125978.1;CLNDSDB=MedGen|MedGen;CLNDSDBID=CN169374|CN221809 Uncertain 2_179401740_C->T 2 179401740 179401740 C T snp 1480.77 0/1 99 132 65 67 0.51 exonic rs55675869 TTN AU,AD,AR nonsynonymous SNV NM_003319 exon184 c.G72901A p.V24301I 0.0231629 0.0625 0.015796 0.0288 0.0714 0 D 1 D -0.587 T 0.997 D 0.994 D CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=criteria_provided\x2c_multiple_submitters\x2c_no_conflicts|criteria_provided\x2c_single_submitter;CLNACC=RCV000040894.3|RCV000125971.1;CLNDSDB=MedGen|MedGen;CLNDSDBID=CN169374|CN221809 Pathogenic 2_179403593_G->A 2 179403593 179403593 G A snp 2864.77 0/1 99 208 98 110 0.53 ncRNA_exonic rs2303539 TTN-AS1 AU 0.185104 0.4514 0.108569 0.1684 0.4343 Uncertain 2_179404786_A->T 2 179404786 179404786 A T snp 2798.77 0/1 99 250 133 117 0.47 ncRNA_intronic rs2288325 MIR548N AU 0.232628 0.4544 0.144207 0.1831 0.4354 CLINSIG=non-pathogenic;CLNDBN=not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000125959.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Uncertain 2_179406003_C->A 2 179406003 179406003 C A snp 2716.77 1/1 99 103 0 103 1.0 splicing rs3731750 TTN AU,AD,AR NM_133432 exon14 c.14270-5C>A 0.504593 0.7133 0.301198 0.3830 0.7165 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=criteria_provided\x2c_multiple_submitters\x2c_no_conflicts|criteria_provided\x2c_single_submitter;CLNACC=RCV000040859.5|RCV000125958.1;CLNDSDB=MedGen|MedGen;CLNDSDBID=CN169374|CN221809 Pathogenic 2_179406191_C->T 2 179406191 179406191 C T snp 1197.77 0/1 99 103 54 49 0.48 exonic rs3731749 TTN AU,AD,AR nonsynonymous SNV NM_003319 exon178 c.G70418A p.R23473H 0.209265 0.4514 0.122061 0.1778 0.4340 0 D 1.000 P -1.035 T 1.0 D 0.999 D CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=criteria_provided\x2c_multiple_submitters\x2c_no_conflicts|criteria_provided\x2c_single_submitter;CLNACC=RCV000040855.6|RCV000125957.1;CLNDSDB=MedGen|MedGen;CLNDSDBID=CN169374|CN221809 Pathogenic 2_179411011_T->C 2 179411011 179411011 T C snp 3515.77 0/1 99 250 117 133 0.53 exonic rs72648257 TTN AU,AD,AR nonsynonymous SNV NM_003319 exon170 c.A67852G p.S22618G 0.0223642 0.0605 0.015579 0.0262 0.0646 0 D 0.507 D -0.637 T 0.98 D 0.63 D CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=criteria_provided\x2c_multiple_submitters\x2c_no_conflicts|criteria_provided\x2c_single_submitter;CLNACC=RCV000040816.4|RCV000125948.1;CLNDSDB=MedGen|MedGen;CLNDSDBID=CN169374|CN221809 Pathogenic 2_179411665_A->G 2 179411665 179411665 A G snp 1119.77 0/1 99 116 70 46 0.4 ncRNA_intronic rs2288327 MIR548N AU 0.327476 0.63 0.199085 0.2297 0.6078 Uncertain 2_179413110_G->A 2 179413110 179413110 G A snp 2676.77 0/1 99 250 144 106 0.42 exonic rs3731748 TTN AU,AD,AR synonymous SNV NM_003319 exon167 c.C66048T p.A22016A 0.234225 0.4514 0.143650 0.1840 0.4345 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=criteria_provided\x2c_multiple_submitters\x2c_no_conflicts|criteria_provided\x2c_single_submitter;CLNACC=RCV000040799.6|RCV000125941.1;CLNDSDB=MedGen|MedGen;CLNDSDBID=CN169374|CN221809 Uncertain 2_179414633_C->A 2 179414633 179414633 C A snp 1534.77 0/1 99 125 63 62 0.5 ncRNA_intronic rs890578 MIR548N AU 0.323482 0.63 0.195431 0.2249 0.6052 Uncertain 2_179414705_A->T 2 179414705 179414705 A T snp 1915.77 0/1 99 117 48 69 0.59 ncRNA_intronic rs56145100 MIR548N AU 0.0223642 0.0605 0.015144 0.0276 0.0668 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=criteria_provided\x2c_multiple_submitters\x2c_no_conflicts|criteria_provided\x2c_single_submitter;CLNACC=RCV000040784.6|RCV000125936.1;CLNDSDB=MedGen|MedGen;CLNDSDBID=CN169374|CN221809 Uncertain 2_179421470_T->G 2 179421470 179421470 T G snp 425.77 0/1 99 29 15 14 0.48 ncRNA_intronic rs16866397 MIR548N AU 0.234026 0.4554 Uncertain 2_179421694_A->G 2 179421694 179421694 A G snp 7491.77 1/1 99 250 0 250 1.0 exonic rs9808377 TTN AU,AD,AR nonsynonymous SNV NM_003319 exon158 c.T60992C p.I20331T 0.507188 0.7153 0.318278 0.3506 0.6988 0 D 0.000 P -0.881 T 0.0 T 0.0 T CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=criteria_provided\x2c_multiple_submitters\x2c_no_conflicts|criteria_provided\x2c_single_submitter;CLNACC=RCV000040744.4|RCV000125926.1;CLNDSDB=MedGen|MedGen;CLNDSDBID=CN169374|CN221809 Pathogenic 2_179423099_A->G 2 179423099 179423099 A G snp 2308.77 0/1 99 208 111 97 0.47 exonic rs12621078 TTN AU,AD,AR synonymous SNV NM_003319 exon155 c.T59892C p.L19964L 0.0223642 0.0605 0.015926 0.0267 0.0673 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=criteria_provided\x2c_multiple_submitters\x2c_no_conflicts|criteria_provided\x2c_single_submitter;CLNACC=RCV000040729.3|RCV000125923.1;CLNDSDB=MedGen|MedGen;CLNDSDBID=CN169374|CN221809 Uncertain 2_179427186_A->G 2 179427186 179427186 A G snp 7453.77 1/1 99 250 2 248 0.99 exonic rs2366751 TTN AU,AD,AR synonymous SNV NM_003319 exon154 c.T56478C p.G18826G 0.508786 0.7153 0.318032 0.3513 0.6962 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=criteria_provided\x2c_multiple_submitters\x2c_no_conflicts|criteria_provided\x2c_single_submitter;CLNACC=RCV000040698.6|RCV000125917.1;CLNDSDB=MedGen|MedGen;CLNDSDBID=CN169374|CN221809 Uncertain 2_179427536_T->C 2 179427536 179427536 T C snp 6664.77 1/1 99 245 1 244 1.0 exonic rs3829746 TTN AU,AD,AR nonsynonymous SNV NM_003319 exon154 c.A56128G p.I18710V 0.508387 0.7153 0.319993 0.3536 0.6995 0 D 0.029 P -0.971 T 0.0 T 0.001 T CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=criteria_provided\x2c_multiple_submitters\x2c_no_conflicts|criteria_provided\x2c_single_submitter;CLNACC=RCV000040694.7|RCV000125916.1;CLNDSDB=MedGen|MedGen;CLNDSDBID=CN169374|CN221809 Pathogenic 2_179429004_G->A 2 179429004 179429004 G A snp 2888.77 0/1 99 250 123 127 0.51 exonic rs56214710 TTN AU,AD,AR synonymous SNV NM_003319 exon154 c.C54660T p.I18220I 0.0221645 0.0585 0.015700 0.0259 0.0622 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=criteria_provided\x2c_multiple_submitters\x2c_no_conflicts|criteria_provided\x2c_single_submitter;CLNACC=RCV000040672.6|RCV000125908.1;CLNDSDB=MedGen|MedGen;CLNDSDBID=CN169374|CN221809 Uncertain 2_179430060_G->T 2 179430060 179430060 G T snp 3052.77 0/1 99 250 124 126 0.5 exonic rs3813247 TTN AU,AD,AR synonymous SNV NM_003319 exon154 c.C53604A p.T17868T 0.0221645 0.0595 0.015932 0.0260 0.0635 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=criteria_provided\x2c_multiple_submitters\x2c_no_conflicts|criteria_provided\x2c_single_submitter;CLNACC=RCV000040662.6|RCV000125905.1;CLNDSDB=MedGen|MedGen;CLNDSDBID=CN169374|CN221809 Uncertain 2_179430997_G->A 2 179430997 179430997 G A snp 2568.77 0/1 99 221 121 100 0.45 exonic rs3731746 TTN AU,AD,AR nonsynonymous SNV NM_003319 exon154 c.C52667T p.T17556M 0.342252 0.629 0.217628 0.2343 0.6061 0 D 0.986 P -0.884 T 0.914 T 0.636 D CLINSIG=non-pathogenic|non-pathogenic,non-pathogenic;CLNDBN=not_specified|not_provided,not_specified;CLNREVSTAT=criteria_provided\x2c_multiple_submitters\x2c_no_conflicts|criteria_provided\x2c_single_submitter,criteria_provided\x2c_single_submitter;CLNACC=RCV000040652.7|RCV000125901.1,RCV000172788.1;CLNDSDB=MedGen|MedGen,MedGen;CLNDSDBID=CN169374|CN221809,CN169374 Pathogenic 2_179431594_A->G 2 179431594 179431594 A G snp 3701.77 0/1 99 250 129 121 0.48 exonic rs3731745 TTN AU,AD,AR nonsynonymous SNV NM_003319 exon154 c.T52070C p.I17357T 0.0223642 0.0605 0.015959 0.0263 0.0652 0 D 1.000 D -0.983 T 0.991 D 0.855 D CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=criteria_provided\x2c_multiple_submitters\x2c_no_conflicts|criteria_provided\x2c_single_submitter;CLNACC=RCV000040643.7|RCV000125896.1;CLNDSDB=MedGen|MedGen;CLNDSDBID=CN169374|CN221809 Pathogenic 2_179433221_T->C 2 179433221 179433221 T C snp 3460.77 0/1 99 250 115 135 0.54 exonic rs56018860 TTN AU,AD,AR nonsynonymous SNV NM_003319 exon154 c.A50443G p.T16815A 0.0223642 0.0605 0.016036 0.0262 0.0652 0 D 0.990 N -0.950 T 0.0 T 0.001 T CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=criteria_provided\x2c_multiple_submitters\x2c_no_conflicts|criteria_provided\x2c_single_submitter;CLNACC=RCV000040629.7|RCV000125893.1;CLNDSDB=MedGen|MedGen;CLNDSDBID=CN169374|CN221809 Pathogenic 2_179433580_T->C 2 179433580 179433580 T C snp 3431.77 0/1 99 250 123 127 0.51 exonic rs3813246 TTN AU,AD,AR nonsynonymous SNV NM_003319 exon154 c.A50084G p.N16695S 0.0223642 0.0605 0.015832 0.0262 0.0652 0 D 1.000 D -1.041 T 0.374 T 0.132 T CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=criteria_provided\x2c_multiple_submitters\x2c_no_conflicts|criteria_provided\x2c_single_submitter;CLNACC=RCV000040626.6|RCV000125892.1;CLNDSDB=MedGen|MedGen;CLNDSDBID=CN169374|CN221809 Pathogenic 2_179434139_A->G 2 179434139 179434139 A G snp 3515.77 0/1 99 250 113 137 0.55 exonic rs3813245 TTN AU,AD,AR nonsynonymous SNV NM_003319 exon154 c.T49525C p.Y16509H 0.0223642 0.0605 0.015783 0.0262 0.0654 0 D 0.783 D -0.962 T 0.966 D 0.787 D CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=criteria_provided\x2c_multiple_submitters\x2c_no_conflicts|criteria_provided\x2c_single_submitter;CLNACC=RCV000040619.7|RCV000125890.1;CLNDSDB=MedGen|MedGen;CLNDSDBID=CN169374|CN221809 Pathogenic 2_179436020_G->A 2 179436020 179436020 G A snp 3128.77 0/1 99 250 119 131 0.52 exonic rs744426 TTN AU,AD,AR nonsynonymous SNV NM_003319 exon154 c.C47644T p.R15882C 0.208067 0.4504 0.122078 0.1746 0.4325 0 D 1.000 P -0.982 T 0.999 D 0.877 D CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=criteria_provided\x2c_multiple_submitters\x2c_no_conflicts|criteria_provided\x2c_single_submitter;CLNACC=RCV000040599.7|RCV000125884.1;CLNDSDB=MedGen|MedGen;CLNDSDBID=CN169374|CN221809 Pathogenic 2_179441831_A->G 2 179441831 179441831 A G snp 1781.77 0/1 99 170 96 74 0.44 exonic rs12615797 TTN AU,AD,AR synonymous SNV NM_003319 exon152 c.T42036C p.L14012L 0.00319489 0.0159 0.0012 0.0176 Uncertain 2_179443217_T->G 2 179443217 179443217 T G snp 673.77 1/1 51 18 0 18 1.0 ncRNA_intronic rs3769864 MIR548N AU 0.512181 0.7212 Uncertain 2_179444137_A->G 2 179444137 179444137 A G snp 895.77 0/1 99 43 9 34 0.79 ncRNA_intronic rs2288571 MIR548N AU 0.347444 0.6329 0.220613 0.2388 0.6122 CLINSIG=non-pathogenic;CLNDBN=not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000125866.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Uncertain 2_179444289_A->G 2 179444289 179444289 A G snp 1610.77 0/1 99 128 62 66 0.52 exonic rs2288570 TTN AU,AD,AR synonymous SNV NM_003319 exon147 c.T40440C p.V13480V 0.0283546 0.0605 0.017275 0.0305 0.0654 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=criteria_provided\x2c_multiple_submitters\x2c_no_conflicts|criteria_provided\x2c_single_submitter;CLNACC=RCV000040525.3|RCV000125865.1;CLNDSDB=MedGen|MedGen;CLNDSDBID=CN169374|CN221809 Uncertain 2_179444626_A->C 2 179444626 179444626 A C snp 3619.77 0/1 99 250 110 140 0.56 ncRNA_intronic rs72646874 MIR548N AU 0.0223642 0.0605 0.015742 0.0263 0.0655 Uncertain 2_179444768_C->G 2 179444768 179444768 C G snp 7354.77 1/1 99 250 0 250 1.0 exonic rs4145333 TTN AU,AD,AR nonsynonymous SNV NM_003319 exon146 c.G40051C p.A13351P 0.994609 1 0.995617 0.9986 1 0 D 0.0 P -1.003 T 0.0 T 0.0 T CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=criteria_provided\x2c_multiple_submitters\x2c_no_conflicts|criteria_provided\x2c_single_submitter;CLNACC=RCV000040520.4|RCV000125863.1;CLNDSDB=MedGen|MedGen;CLNDSDBID=CN169374|CN221809 Pathogenic 2_179444939_C->T 2 179444939 179444939 C T snp 850.77 0/1 99 76 39 37 0.49 exonic rs2303838 TTN AU,AD,AR nonsynonymous SNV NM_003319 exon146 c.G39880A p.V13294I 0.351238 0.631 0.223949 0.2420 0.6017 0 D 0.964 P -0.962 T 0.003 T 0.011 T CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=criteria_provided\x2c_multiple_submitters\x2c_no_conflicts|criteria_provided\x2c_single_submitter;CLNACC=RCV000040517.4|RCV000125862.1;CLNDSDB=MedGen|MedGen;CLNDSDBID=CN169374|CN221809 Pathogenic 2_179447848_T->C 2 179447848 179447848 T C snp 5655.77 1/1 99 207 0 207 1.0 exonic rs4894029 TTN AU,AD,AR synonymous SNV NM_003319 exon141 c.A38487G p.T12829T 0.513778 0.7202 0.321758 0.3588 0.7006 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=criteria_provided\x2c_multiple_submitters\x2c_no_conflicts|criteria_provided\x2c_single_submitter;CLNACC=RCV000040497.6|RCV000125856.1;CLNDSDB=MedGen|MedGen;CLNDSDBID=CN169374|CN221809 Uncertain 2_179448315_A->C 2 179448315 179448315 A C snp 196.77 0/1 99 17 10 7 0.41 ncRNA_exonic rs72646865 TTN-AS1 AU 0.0391374 0.0605 0.027932 0.0473 0.0846 CLINSIG=non-pathogenic;CLNDBN=not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000125854.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Uncertain 2_179448911_G->A 2 179448911 179448911 G A snp 641.77 1/1 48 19 0 19 1.0 ncRNA_intronic rs16866400 MIR548N AU 0.357428 0.6925 Uncertain 2_179451420_G->A 2 179451420 179451420 G A snp 3468.77 1/1 99 121 0 121 1.0 exonic rs2042996 TTN AU,AD,AR nonsynonymous SNV NM_003319 exon136 c.C37013T p.T12338I 0.507588 0.7212 0.312277 0.3509 0.7027 0 D 0.000 P -0.907 T 0.0 T 0.0 T CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=criteria_provided\x2c_multiple_submitters\x2c_no_conflicts|criteria_provided\x2c_single_submitter;CLNACC=RCV000040479.4|RCV000125849.1;CLNDSDB=MedGen|MedGen;CLNDSDBID=CN169374|CN221809 Pathogenic 2_179451660_A->G 2 179451660 179451660 A G snp 77.77 0/1 99 6 3 3 0.5 ncRNA_intronic rs1007025 MIR548N AU 0.256589 0.4633 Uncertain 2_179454394_A->G 2 179454394 179454394 A G snp 7577.77 1/1 99 250 1 249 1.0 exonic rs1560221 TTN AU,AD,AR synonymous SNV NM_003319 exon132 c.T34863C p.Y11621Y 0.51238 0.7232 0.320703 0.3540 0.7048 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=criteria_provided\x2c_multiple_submitters\x2c_no_conflicts|criteria_provided\x2c_single_submitter;CLNACC=RCV000040449.3|RCV000125841.1;CLNDSDB=MedGen|MedGen;CLNDSDBID=CN169374|CN221809 Uncertain 2_179455207_T->C 2 179455207 179455207 T C snp 7255.77 1/1 99 241 0 241 1.0 exonic rs2163009 TTN AU,AD,AR synonymous SNV NM_003319 exon132 c.A34050G p.T11350T 0.51238 0.7232 0.319428 0.3544 0.7050 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=criteria_provided\x2c_multiple_submitters\x2c_no_conflicts|criteria_provided\x2c_single_submitter;CLNACC=RCV000040440.3|RCV000125840.1;CLNDSDB=MedGen|MedGen;CLNDSDBID=CN169374|CN221809 Uncertain 2_179457147_G->A 2 179457147 179457147 G A snp 2687.77 0/1 99 249 134 115 0.46 exonic rs16866406 TTN AU,AD,AR nonsynonymous SNV NM_003319 exon129 c.C32390T p.P10797L 0.213059 0.4573 0.125295 0.1768 0.4354 0 D 0.999 P -1.003 T 0.008 T 0.031 T CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=criteria_provided\x2c_multiple_submitters\x2c_no_conflicts|criteria_provided\x2c_single_submitter;CLNACC=RCV000040422.3|RCV000125839.1;CLNDSDB=MedGen|MedGen;CLNDSDBID=CN169374|CN221809 Pathogenic 2_179458591_C->T 2 179458591 179458591 C T snp 1772.77 0/1 99 146 71 75 0.51 exonic rs2288569 TTN AU,AD,AR nonsynonymous SNV NM_003319 exon126 c.G31241A p.R10414H 0.21246 0.4544 0.125231 0.1761 0.4317 0 D 1.000 P -1.027 T 1.0 D 0.996 D CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=criteria_provided\x2c_multiple_submitters\x2c_no_conflicts|criteria_provided\x2c_single_submitter;CLNACC=RCV000040406.7|RCV000125833.1;CLNDSDB=MedGen|MedGen;CLNDSDBID=CN169374|CN221809 Pathogenic 2_179460557_A->T 2 179460557 179460557 A T snp 827.77 0/1 99 61 26 35 0.57 ncRNA_intronic rs72646834 MIR548N AU 0.0285543 0.0605 0.015985 0.0394 0.1034 Uncertain 2_179462142_A->G 2 179462142 179462142 A G snp 130.03 1/1 12 4 0 4 1.0 ncRNA_intronic rs6712785 MIR548N AU 0.512181 0.7232 Uncertain 2_179463446_-->A 2 179463446 179463446 - A indel 1363.73 0/1 99 160 92 68 0.42 ncRNA_intronic rs3214578 MIR548N AU 0.0265575 0.0605 0.022535 0.0305 0.0655 Uncertain 2_179464245_A->G 2 179464245 179464245 A G snp 1639.77 0/1 99 127 64 63 0.5 ncRNA_intronic rs2288568 MIR548N AU 0.0285543 0.0605 0.017340 0.0309 0.0656 Uncertain 2_179464527_T->C 2 179464527 179464527 T C snp 4568.77 1/1 99 164 0 164 1.0 exonic rs1001238 TTN AU,AD,AR nonsynonymous SNV NM_003319 exon117 c.A28906G p.N9636D 0.51278 0.7252 0.322054 0.3554 0.7062 0 D 0.055 P -0.985 T 0.0 T 0.0 T CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=criteria_provided\x2c_multiple_submitters\x2c_no_conflicts|criteria_provided\x2c_single_submitter;CLNACC=RCV000040380.4|RCV000125828.1;CLNDSDB=MedGen|MedGen;CLNDSDBID=CN169374|CN221809 Pathogenic 2_179467330_G->A 2 179467330 179467330 G A snp 56.77 0/1 85 32 24 8 0.25 ncRNA_intronic rs754778370 MIR548N AU 0.0005 0 ID=COSN54473;OCCURENCE=1(central_nervous_system) Uncertain 2_179469386_A->G 2 179469386 179469386 A G snp 276.77 0/1 99 28 16 12 0.43 ncRNA_intronic rs10497518 MIR548N AU 0.119209 0.253 0.061276 0.0711 0.2295 Uncertain 2_179472292_T->A 2 179472292 179472292 T A snp 3361.77 0/1 99 250 122 128 0.51 exonic rs2303832 TTN AU,AD,AR nonsynonymous SNV NM_003319 exon105 c.A25928T p.K8643I 0.0295527 0.0992 0.015659 0.0292 0.1032 0 D 0.997 N -0.925 T 0.0 T 0.001 T CLINSIG=non-pathogenic|non-pathogenic|unknown;CLNDBN=not_specified|not_provided|not_specified;CLNREVSTAT=criteria_provided\x2c_multiple_submitters\x2c_no_conflicts|criteria_provided\x2c_single_submitter|criteria_provided\x2c_single_submitter;CLNACC=RCV000040342.4|RCV000125823.1|RCV000156254.1;CLNDSDB=MedGen|MedGen|MedGen;CLNDSDBID=CN169374|CN221809|CN169374 Pathogenic 2_179472693_A->G 2 179472693 179472693 A G snp 3230.05 0/1 99 250 128 122 0.49 exonic rs2303831 TTN AU,AD,AR synonymous SNV NM_003319 exon104 c.T25626C p.D8542D 0.0305511 0.0992 0.015597 0.0296 0.1042 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=criteria_provided\x2c_multiple_submitters\x2c_no_conflicts|criteria_provided\x2c_single_submitter;CLNACC=RCV000040335.3|RCV000125820.1;CLNDSDB=MedGen|MedGen;CLNDSDBID=CN169374|CN221809 Uncertain 2_179474320_A->G 2 179474320 179474320 A G snp 2272.77 0/1 99 198 104 94 0.47 ncRNA_intronic rs2288567 MIR548N AU 0.00219649 0.0109 0.0011 0.0155 Uncertain 2_179474466_C->T 2 179474466 179474466 C T snp 1915.77 0/1 99 169 96 73 0.43 exonic rs2288566 TTN AU,AD,AR synonymous SNV NM_003319 exon100 c.G24489A p.A8163A 0.0299521 0.0972 0.015848 0.0290 0.1003 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=criteria_provided\x2c_multiple_submitters\x2c_no_conflicts|criteria_provided\x2c_single_submitter;CLNACC=RCV000040326.3|RCV000125817.1;CLNDSDB=MedGen|MedGen;CLNDSDBID=CN169374|CN221809 Uncertain 2_179477333_T->- 2 179477333 179477333 T - indel 521.73 1/1 57 25 0 25 1.0 ncRNA_intronic rs34928195 MIR548N AU 0.511182 0.7222 0.4112 0.6899 Uncertain 2_179477476_T->G 2 179477476 179477476 T G snp 1200.77 0/1 99 91 45 46 0.51 ncRNA_intronic rs72677248 MIR548N AU 0.0361422 0.0982 0.016962 0.0373 0.1169 Uncertain 2_179479118_-->T 2 179479118 179479118 - T indel 1054.73 0/1 99 119 63 56 0.47 ncRNA_exonic rs200669885 TTN-AS1 AU 0.0365415 0.1002 0.017693 0.0333 0.1042 Uncertain 2_179479922_C->T 2 179479922 179479922 C T snp 254.77 0/1 99 17 9 8 0.47 ncRNA_intronic rs55658446 MIR548N AU 0.0303514 0.0992 Uncertain 2_179484892_T->A 2 179484892 179484892 T A snp 2382.77 0/1 99 187 99 88 0.47 ncRNA_exonic rs72677228 TTN-AS1 AU 0.0363419 0.0992 Uncertain 2_179485599_A->G 2 179485599 179485599 A G snp 2862.77 0/1 99 250 132 118 0.47 exonic rs2303829 TTN AU,AD,AR synonymous SNV NM_003319 exon75 c.T18543C p.A6181A 0.0363419 0.0992 0.017291 0.0333 0.1043 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=criteria_provided\x2c_multiple_submitters\x2c_no_conflicts|criteria_provided\x2c_single_submitter;CLNACC=RCV000040263.3|RCV000125803.1;CLNDSDB=MedGen|MedGen;CLNDSDBID=CN169374|CN221809 Uncertain 2_179487314_-->T 2 179487314 179487314 - T indel 381.73 0/1 99 46 24 22 0.48 ncRNA_intronic rs200732906 MIR548N AU 0.0391374 0.0982 Uncertain 2_179499530_T->C 2 179499530 179499530 T C snp 1601.77 0/1 99 149 84 65 0.44 exonic rs2288563 TTN AU,AD,AR nonsynonymous SNV NM_003319 exon57 c.A14876G p.H4959R 0.0305511 0.0992 0.015873 0.0291 0.1048 0 D 0.983 D -1.143 T 0.22 T 0.039 T CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=criteria_provided\x2c_multiple_submitters\x2c_no_conflicts|criteria_provided\x2c_single_submitter;CLNACC=RCV000040222.4|RCV000125790.1;CLNDSDB=MedGen|MedGen;CLNDSDBID=CN169374|CN221809 Pathogenic 2_179500790_A->G 2 179500790 179500790 A G snp 2257.77 0/1 99 250 152 98 0.39 exonic rs55847232 TTN AU,AD,AR synonymous SNV NM_003319 exon54 c.T14313C p.A4771A 0.0365415 0.0992 0.016820 0.0334 0.1047 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=criteria_provided\x2c_multiple_submitters\x2c_no_conflicts|criteria_provided\x2c_single_submitter;CLNACC=RCV000040216.3|RCV000125789.1;CLNDSDB=MedGen|MedGen;CLNDSDBID=CN169374|CN221809 Uncertain 2_179501953_T->C 2 179501953 179501953 T C snp 248.77 0/1 99 21 11 10 0.48 ncRNA_intronic rs2742324 MIR548N AU 0.0365415 0.0992 Uncertain 2_179505896_A->G 2 179505896 179505896 A G snp 185.77 0/1 99 19 11 8 0.42 ncRNA_intronic rs2243452 MIR548N AU 0.0365415 0.0992 Uncertain 2_179514420_G->A 2 179514420 179514420 G A snp 1298.77 0/1 99 92 51 41 0.45 ncRNA_intronic rs1366677 MIR548N AU 0.0305511 0.0992 Uncertain 2_179514433_T->C 2 179514433 179514433 T C snp 2732.77 1/1 99 76 0 76 1.0 ncRNA_intronic rs2562845 MIR548N AU 0.32488 0.5565 Uncertain 2_179514508_A->C 2 179514508 179514508 A C snp 1230.77 0/1 99 104 48 56 0.54 ncRNA_intronic rs2742356 MIR548N AU 0.0305511 0.0992 0.015042 0.0290 0.1032 Uncertain 2_179515437_T->G 2 179515437 179515437 T G snp 2430.77 0/1 99 205 94 111 0.54 ncRNA_intronic rs2742355 MIR548N AU 0.0307508 0.1002 0.015260 0.0355 0.1388 Uncertain 2_179515687_T->C 2 179515687 179515687 T C snp 111.77 0/1 99 10 5 5 0.5 ncRNA_intronic rs2562846 MIR548N AU 0.0365415 0.0992 Uncertain 2_179517654_T->C 2 179517654 179517654 T C snp 650.77 0/1 99 60 33 27 0.45 ncRNA_intronic rs2742354 MIR548N AU 0.0365415 0.0992 0.0338 0.1026 Uncertain 2_179528378_C->T 2 179528378 179528378 C T snp 1108.77 0/1 99 100 50 50 0.5 ncRNA_intronic rs2163008 MIR548N AU 0.259185 0.1339 0.183467 0.1476 0.1335 1 T 1.000 P -0.930 T CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000172800.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 2_179529273_A->G 2 179529273 179529273 A G snp 2255.77 0/1 99 160 70 90 0.56 ncRNA_intronic rs2562849 MIR548N AU 0.0367412 0.1002 0.017265 0.0340 0.1028 Uncertain 2_179529497_T->G 2 179529497 179529497 T G snp 2594.77 0/1 99 204 106 98 0.48 ncRNA_intronic rs2742353 MIR548N AU 0.0369409 0.1012 0.017091 0.0343 0.1055 Uncertain 2_179539903_C->A 2 179539903 179539903 C A snp 905.77 1/1 66 37 0 37 1.0 ncRNA_intronic rs2472751 MIR548N AU 0.471246 0.5784 0.311788 Uncertain 2_179540572_C->T 2 179540572 179540572 C T snp 1942.77 0/1 99 158 75 83 0.53 ncRNA_intronic rs117379921 MIR548N AU 0.00319489 0.0149 Uncertain 2_179542233_G->A 2 179542233 179542233 G A snp 119.78 0/1 27 5 1 4 0.8 intronic rs2742349 TTN AU,AD,AR NM_133378 exon170 c.150609-114G>A 0.258986 0.1339 Uncertain 2_179543217_C->T 2 179543217 179543217 C T snp 1371.77 0/1 99 95 36 59 0.62 exonic rs35112591 TTN AU,AD,AR synonymous SNV NM_133378 exon141 c.G30102A p.E10034E 0.238419 0.4454 0.152698 0.2599 0.5080 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=criteria_provided\x2c_multiple_submitters\x2c_no_conflicts|criteria_provided\x2c_single_submitter;CLNACC=RCV000040164.3|RCV000125772.1;CLNDSDB=MedGen|MedGen;CLNDSDBID=CN169374|CN221809 Uncertain 2_179547860_A->G 2 179547860 179547860 A G snp 490.77 0/1 99 47 24 23 0.49 intronic rs2303828 TTN AU,AD,AR NM_133378 exon182 c.156199-77A>G 0.284944 0.4593 Uncertain 2_179548954_-->CAA 2 179548954 179548954 - CAA indel 1632.73 0/1 99 132 81 51 0.39 intronic rs35780320 TTN AU,AD,AR NM_133378 exon184 c.157318-102insCAA Uncertain 2_179553917_G->A 2 179553917 179553917 G A snp 895.77 0/1 99 63 29 34 0.54 intronic rs2627038 TTN AU,AD,AR NM_133378 exon191 c.162125+54G>A 0.261581 0.129 0.180464 Uncertain 2_179554305_C->T 2 179554305 179554305 C T snp 1167.77 0/1 99 95 50 45 0.47 exonic rs2244492 TTN AU,AD,AR nonsynonymous SNV NM_133378 exon120 c.G28132A p.G9378R 0.413339 0.1677 0.433490 0.3995 0.1783 0 D 1.000 P -0.948 T CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=criteria_provided\x2c_multiple_submitters\x2c_no_conflicts|criteria_provided\x2c_single_submitter;CLNACC=RCV000040129.4|RCV000125756.1;CLNDSDB=MedGen|MedGen;CLNDSDBID=CN169374|CN221809 Pathogenic 2_179558282_T->A 2 179558282 179558282 T A snp 643.77 1/1 48 23 0 23 1.0 intronic rs2255167 TTN AU,AD,AR NM_133378 exon197 c.166597-53T>A 0.322284 0.5446 Uncertain 2_179558366_T->C 2 179558366 179558366 T C snp 1754.77 1/1 99 65 0 65 1.0 exonic rs2042995 TTN AU,AD,AR nonsynonymous SNV NM_133378 exon116 c.A27832G p.I9278V 0.477835 0.5685 0.329662 0.3536 0.5761 0 D 1.000 P -1.002 T CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=criteria_provided\x2c_multiple_submitters\x2c_no_conflicts|criteria_provided\x2c_single_submitter;CLNACC=RCV000040122.4|RCV000125754.1;CLNDSDB=MedGen|MedGen;CLNDSDBID=CN169374|CN221809 Pathogenic 2_179560029_A->C 2 179560029 179560029 A C snp 710.77 0/1 99 72 39 33 0.46 intronic rs766329590 TTN AU,AD,AR NM_133378 exon201 c.168336-45A>C 8.34e-06 0.0001 Uncertain 2_179566146_T->G 2 179566146 179566146 T G snp 1860.77 1/1 99 66 0 66 1.0 intronic rs2251987 TTN AU,AD,AR NM_133378 exon206 c.174516-108T>G 0.963858 1 Uncertain 2_179569400_C->T 2 179569400 179569400 C T snp 1785.77 0/1 99 178 100 78 0.44 exonic rs2742344 TTN AU,AD,AR synonymous SNV NM_133378 exon102 c.G26067A p.S8689S 0.0842652 0.1954 0.041992 0.0520 0.2175 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=criteria_provided\x2c_multiple_submitters\x2c_no_conflicts|criteria_provided\x2c_single_submitter;CLNACC=RCV000040095.3|RCV000125743.1;CLNDSDB=MedGen|MedGen;CLNDSDBID=CN169374|CN221809 Uncertain 2_179569436_A->G 2 179569436 179569436 A G snp 1236.77 0/1 99 111 65 46 0.41 exonic rs2742343 TTN AU,AD,AR synonymous SNV NM_133378 exon102 c.T26031C p.I8677I 0.096845 0.1954 0.058353 0.0574 0.2217 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=criteria_provided\x2c_multiple_submitters\x2c_no_conflicts|criteria_provided\x2c_single_submitter;CLNACC=RCV000040093.3|RCV000125742.1;CLNDSDB=MedGen|MedGen;CLNDSDBID=CN169374|CN221809 Uncertain 2_179570114_A->T 2 179570114 179570114 A T snp 300.77 0/1 99 14 5 9 0.64 intronic rs2742342 TTN AU,AD,AR NM_133378 exon213 c.178346+30A>T 0.0866613 0.1964 0.042032 0.0626 0.2316 Uncertain 2_179570122_C->A 2 179570122 179570122 C A snp 143.77 0/1 99 9 4 5 0.56 intronic rs2742341 TTN AU,AD,AR NM_133378 exon213 c.178346+38C>A 0.0513179 0.1964 0.015076 0.0386 0.2215 Uncertain 2_179574384_C->T 2 179574384 179574384 C T snp 2261.77 0/1 99 194 103 91 0.47 exonic rs2742332 TTN AU,AD,AR synonymous SNV NM_133378 exon96 c.G24930A p.R8310R 0.0752796 0.1964 0.034843 0.0488 0.2155 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=criteria_provided\x2c_multiple_submitters\x2c_no_conflicts|criteria_provided\x2c_single_submitter;CLNACC=RCV000040082.6|RCV000126171.1;CLNDSDB=MedGen|MedGen;CLNDSDBID=CN169374|CN221809 Uncertain 2_179576596_A->T 2 179576596 179576596 A T snp 1211.77 1/1 87 42 0 42 1.0 intronic rs2742331 TTN AU,AD,AR NM_133378 exon220 c.184932-74A>T 0.444888 0.6577 Uncertain 2_179578730_G->A 2 179578730 179578730 G A snp 7207.77 1/1 99 249 0 249 1.0 exonic rs2562839 TTN AU,AD,AR synonymous SNV NM_133378 exon89 c.C22923T p.S7641S 0.444688 0.6567 0.264148 0.3061 0.6651 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=criteria_provided\x2c_multiple_submitters\x2c_no_conflicts|criteria_provided\x2c_single_submitter;CLNACC=RCV000040054.6|RCV000126165.1;CLNDSDB=MedGen|MedGen;CLNDSDBID=CN169374|CN221809 Uncertain 2_179578937_A->G 2 179578937 179578937 A G snp 2699.77 0/1 99 223 118 105 0.47 intronic rs2742330 TTN AU,AD,AR NM_133378 exon224 c.187164+35A>G 0.0804712 0.1964 0.039730 0.0508 0.2162 Uncertain 2_179579093_T->C 2 179579093 179579093 T C snp 2801.77 0/1 99 249 138 111 0.45 exonic rs12693164 TTN AU,AD,AR nonsynonymous SNV NM_133378 exon88 c.A22676G p.N7559S 0.247005 0.4365 0.152866 0.1793 0.4260 0 D 1.000 P -0.992 T 0.018 T 0.004 T CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=criteria_provided\x2c_multiple_submitters\x2c_no_conflicts|criteria_provided\x2c_single_submitter;CLNACC=RCV000040047.4|RCV000126163.1;CLNDSDB=MedGen|MedGen;CLNDSDBID=CN169374|CN221809 Pathogenic 2_179579212_T->C 2 179579212 179579212 T C snp 7092.77 1/1 99 247 0 247 1.0 exonic rs2562838 TTN AU,AD,AR synonymous SNV NM_133378 exon88 c.A22557G p.E7519E 0.483427 0.6587 0.305621 0.3197 0.6706 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=criteria_provided\x2c_multiple_submitters\x2c_no_conflicts|criteria_provided\x2c_single_submitter;CLNACC=RCV000040046.3|RCV000126162.1;CLNDSDB=MedGen|MedGen;CLNDSDBID=CN169374|CN221809 Uncertain 2_179579366_G->A 2 179579366 179579366 G A snp 553.77 0/1 99 23 5 18 0.78 intronic rs2627044 TTN AU,AD,AR NM_133378 exon225 c.187562+66G>A 0.0800719 0.1964 Uncertain 2_179579694_T->A 2 179579694 179579694 T A snp 1571.77 0/1 99 134 70 64 0.48 intronic rs2562837 TTN AU,AD,AR NM_133378 exon226 c.187974-18T>A 0.0754792 0.1964 0.034555 0.0507 0.2165 CLINSIG=non-pathogenic;CLNDBN=not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000126160.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Uncertain 2_179579822_T->A 2 179579822 179579822 T A snp 4470.77 1/1 99 163 0 163 1.0 exonic rs2562836 TTN AU,AD,AR synonymous SNV NM_133378 exon87 c.A22359T p.L7453L 0.444489 0.6577 0.264324 0.3062 0.6684 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=criteria_provided\x2c_multiple_submitters\x2c_no_conflicts|criteria_provided\x2c_single_submitter;CLNACC=RCV000040043.3|RCV000126159.1;CLNDSDB=MedGen|MedGen;CLNDSDBID=CN169374|CN221809 Uncertain 2_179580068_A->C 2 179580068 179580068 A C snp 44.77 0/1 33 3 1 2 0.67 intronic rs2562835 TTN AU,AD,AR NM_133378 exon226 c.188253+77A>C 0.0754792 0.1964 Uncertain 2_179580434_A->G 2 179580434 179580434 A G snp 2521.77 0/1 99 248 142 106 0.43 exonic rs2742329 TTN AU,AD,AR synonymous SNV NM_133378 exon86 c.T21975C p.Y7325Y 0.0507188 0.1944 0.016389 0.0543 0.2703 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=criteria_provided\x2c_multiple_submitters\x2c_no_conflicts|criteria_provided\x2c_single_submitter;CLNACC=RCV000040036.3|RCV000126154.1;CLNDSDB=MedGen|MedGen;CLNDSDBID=CN169374|CN221809 Uncertain 2_179580583_T->C 2 179580583 179580583 T C snp 896.77 1/1 69 26 0 26 1.0 intronic rs2562834 TTN AU,AD,AR NM_133378 exon227 c.188763+82T>C 0.322684 0.6329 Uncertain 2_179581835_C->A 2 179581835 179581835 C A snp 1379.77 0/1 99 155 92 63 0.41 exonic rs2562832 TTN AU,AD,AR nonsynonymous SNV NM_133378 exon85 c.G21894T p.Q7298H 0.0513179 0.1964 0.016225 0.0397 0.2153 0 D 0.992 P -1.000 T CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=criteria_provided\x2c_multiple_submitters\x2c_no_conflicts|criteria_provided\x2c_single_submitter;CLNACC=RCV000040033.4|RCV000126153.1;CLNDSDB=MedGen|MedGen;CLNDSDBID=CN169374|CN221809 Pathogenic 2_179582162_C->T 2 179582162 179582162 C T snp 1644.77 0/1 99 131 66 65 0.5 intronic rs62178977 TTN AU,AD,AR NM_133378 exon228 c.190371+53C>T 0.24401 0.4355 Uncertain 2_179582327_C->T 2 179582327 179582327 C T snp 1580.77 0/1 99 139 72 67 0.48 exonic rs13390491 TTN AU,AD,AR nonsynonymous SNV NM_133378 exon84 c.G21542A p.S7181N 0.24381 0.4355 0.154583 0.1784 0.4264 0 D 1.000 P -0.994 T 0.154 T 0.041 T CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=criteria_provided\x2c_multiple_submitters\x2c_no_conflicts|criteria_provided\x2c_single_submitter;CLNACC=RCV000040026.4|RCV000126149.1;CLNDSDB=MedGen|MedGen;CLNDSDBID=CN169374|CN221809 Pathogenic 2_179582537_G->T 2 179582537 179582537 G T snp 7644.77 1/1 99 250 0 250 1.0 exonic rs2627043 TTN AU,AD,AR nonsynonymous SNV NM_133378 exon84 c.C21332A p.A7111E 0.444888 0.6577 0.265814 0.3088 0.6658 0 D 1.0 P -0.990 T CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=criteria_provided\x2c_multiple_submitters\x2c_no_conflicts|criteria_provided\x2c_single_submitter;CLNACC=RCV000040020.7|RCV000126147.1;CLNDSDB=MedGen|MedGen;CLNDSDBID=CN169374|CN221809 Pathogenic 2_179582605_A->G 2 179582605 179582605 A G snp 3727.77 0/1 99 250 112 138 0.55 intronic rs6750145 TTN AU,AD,AR NM_133378 exon230 c.190931-64A>G 0.279153 0.4355 Uncertain 2_179583398_T->C 2 179583398 179583398 T C snp 2914.77 0/1 99 209 85 124 0.59 intronic rs62178978 TTN AU,AD,AR NM_133378 exon232 c.191683-23T>C 0.271565 0.4375 0.180457 0.1908 0.4261 Uncertain 2_179583496_T->G 2 179583496 179583496 T G snp 2789.77 0/1 99 236 119 117 0.5 exonic rs16866465 TTN AU,AD,AR nonsynonymous SNV NM_133378 exon81 c.A20699C p.E6900A 0.238818 0.4375 0.150649 0.1766 0.4271 0 D 1.0 P -1.001 T 0.003 T 0.014 T CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=criteria_provided\x2c_multiple_submitters\x2c_no_conflicts|criteria_provided\x2c_single_submitter;CLNACC=RCV000040001.4|RCV000126140.1;CLNDSDB=MedGen|MedGen;CLNDSDBID=CN169374|CN221809 Pathogenic 2_179585266_C->T 2 179585266 179585266 C T snp 3106.77 1/1 99 95 0 95 1.0 exonic rs2562831 TTN AU,AD,AR synonymous SNV NM_133378 exon77 c.G19491A p.Q6497Q 0.982029 1 0.981412 0.9950 1 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=criteria_provided\x2c_multiple_submitters\x2c_no_conflicts|criteria_provided\x2c_single_submitter;CLNACC=RCV000039984.6|RCV000126134.1;CLNDSDB=MedGen|MedGen;CLNDSDBID=CN169374|CN221809 Uncertain 2_179585393_A->G 2 179585393 179585393 A G snp 1019.77 1/1 75 34 0 34 1.0 splicing rs2562830 TTN AU,AD,AR NM_133378 exon236 c.193652+3A>G 0.460064 0.6597 0.281648 0.3232 0.6741 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=criteria_provided\x2c_multiple_submitters\x2c_no_conflicts|criteria_provided\x2c_single_submitter;CLNACC=RCV000039980.6|RCV000126133.1;CLNDSDB=MedGen|MedGen;CLNDSDBID=CN169374|CN221809 Pathogenic 2_179585963_A->G 2 179585963 179585963 A G snp 620.77 0/1 99 34 16 18 0.53 intronic rs2742328 TTN AU,AD,AR NM_133378 exon237 c.194191+34A>G 0.0513179 0.1964 0.016320 0.0526 0.2575 Uncertain 2_179587130_C->G 2 179587130 179587130 C G snp 2739.77 0/1 99 217 108 109 0.5 exonic rs12693166 TTN AU,AD,AR nonsynonymous SNV NM_133378 exon74 c.G18652C p.D6218H 0.247005 0.4375 0.157193 0.1786 0.4270 0 D 1.0 P -1.081 T 1.0 D 0.995 D CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=criteria_provided\x2c_multiple_submitters\x2c_no_conflicts|criteria_provided\x2c_single_submitter;CLNACC=RCV000039968.4|RCV000126129.1;CLNDSDB=MedGen|MedGen;CLNDSDBID=CN169374|CN221809 Pathogenic 2_179587687_T->C 2 179587687 179587687 T C snp 7932.77 1/1 99 250 0 250 1.0 intronic rs2742327 TTN AU,AD,AR NM_133378 exon240 c.195926+23T>C 0.48722 0.6587 0.306852 0.3209 0.6744 Uncertain 2_179589371_G->T 2 179589371 179589371 G T snp 258.77 0/1 99 23 13 10 0.43 intronic rs2562852 TTN AU,AD,AR NM_133378 exon244 c.197527+106G>T 0.0517173 0.1964 Uncertain 2_179589919_A->C 2 179589919 179589919 A C snp 403.77 0/1 99 20 8 12 0.6 intronic rs2243804 TTN AU,AD,AR NM_133378 exon245 c.198356-175A>C 0.0513179 0.1964 Uncertain 2_179592161_A->G 2 179592161 179592161 A G snp 379.77 0/1 99 20 8 12 0.6 intronic rs2255480 TTN AU,AD,AR NM_133378 exon247 c.200360+63A>G 0.0513179 0.1964 Uncertain 2_179592724_A->G 2 179592724 179592724 A G snp 62.77 0/1 91 9 6 3 0.33 intronic rs2627042 TTN AU,AD,AR NM_133378 exon249 c.201098-112A>G 0.178315 0.2222 Uncertain 2_179592735_C->A 2 179592735 179592735 C A snp 68.77 0/1 97 9 6 3 0.33 intronic rs2562854 TTN AU,AD,AR NM_133378 exon249 c.201098-101C>A 0.0513179 0.1964 Uncertain 2_179595117_C->G 2 179595117 179595117 C G snp 2533.77 1/1 99 90 0 90 1.0 intronic rs17076 TTN AU,AD,AR NM_133378 exon254 c.203360+19C>G 0.348043 0.6637 0.200476 0.2568 0.6695 CLINSIG=non-pathogenic;CLNDBN=not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000126107.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Uncertain 2_179595578_T->- 2 179595578 179595578 T - indel 598.73 0/1 99 71 31 40 0.56 intronic rs35147775 TTN AU,AD,AR NM_133378 exon255 c.203781+59delT 0.109225 0.1925 Uncertain 2_179600563_G->A 2 179600563 179600563 G A snp 7357.77 1/1 99 250 0 250 1.0 exonic rs2742348 TTN AU,AD,AR synonymous SNV NM_133378 exon47 c.C10878T p.S3626S 0.981829 1 0.981026 0.9949 1 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=criteria_provided\x2c_multiple_submitters\x2c_no_conflicts|criteria_provided\x2c_single_submitter;CLNACC=RCV000039860.6|RCV000126094.1;CLNDSDB=MedGen|MedGen;CLNDSDBID=CN169374|CN221809 Uncertain 2_179605180_C->T 2 179605180 179605180 C T snp 2797.77 0/1 99 208 107 101 0.49 exonic rs746578 TTN AU,AD,AR synonymous SNV NM_003319 exon45 c.G11691A p.A3897A 0.238818 0.4702 0.135275 0.1646 0.4573 CLINSIG=non-pathogenic|non-pathogenic,non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided,not_specified|not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter|criteria_provided\x2c_single_submitter,criteria_provided\x2c_single_submitter|criteria_provided\x2c_single_submitter;CLNACC=RCV000041100.2|RCV000126089.1,RCV000041099.2|RCV000126088.1;CLNDSDB=MedGen|MedGen,MedGen|MedGen;CLNDSDBID=CN169374|CN221809,CN169374|CN221809 Uncertain 2_179614952_A->G 2 179614952 179614952 A G snp 6177.77 1/1 99 222 0 222 1.0 intronic rs10803917 TTN AU,AD,AR NM_133379 exon1 c.6455-1814A>G 0.97504 1 0.972547 0.9926 1 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter|criteria_provided\x2c_single_submitter;CLNACC=RCV000041012.2|RCV000126063.1;CLNDSDB=MedGen|MedGen;CLNDSDBID=CN169374|CN221809 Uncertain 2_179615887_T->C 2 179615887 179615887 T C snp 2374.77 1/1 99 87 0 87 1.0 intronic rs922984 TTN AU,AD,AR NM_133379 exon1 c.6455-879T>C 0.733027 0.7758 0.818063 0.8271 0.7529 0.57 T 0.000 P -0.941 T 0.0 T 0.0 T CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=criteria_provided\x2c_multiple_submitters\x2c_no_conflicts|criteria_provided\x2c_single_submitter;CLNACC=RCV000041005.3|RCV000126060.1;CLNDSDB=MedGen|MedGen;CLNDSDBID=CN169374|CN221809 Uncertain 2_179615931_C->G 2 179615931 179615931 C G snp 3022.77 1/1 99 105 0 105 1.0 intronic rs922985 TTN AU,AD,AR NM_133379 exon1 c.6455-835C>G 0.97504 1 0.972453 0.9926 1 0.05 T 0.000 P -0.973 T 0.003 T 0.004 T CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=criteria_provided\x2c_multiple_submitters\x2c_no_conflicts|criteria_provided\x2c_single_submitter;CLNACC=RCV000041004.3|RCV000126059.1;CLNDSDB=MedGen|MedGen;CLNDSDBID=CN169374|CN221809 Uncertain 2_179615994_T->C 2 179615994 179615994 T C snp 3724.77 1/1 99 137 1 136 0.99 intronic rs922986 TTN AU,AD,AR NM_133379 exon1 c.6455-772T>C 0.97504 1 0.972466 0.9926 1 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter|criteria_provided\x2c_single_submitter;CLNACC=RCV000041002.2|RCV000126057.1;CLNDSDB=MedGen|MedGen;CLNDSDBID=CN169374|CN221809 Uncertain 2_179616771_A->- 2 179616771 179616771 A - indel 642.73 1/1 56 46 3 43 0.93 intronic rs397986815 TTN AU,AD,AR NM_133379 exon1 c.6455+5delA 0.526158 0.5823 0.4728 0.5124 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000040993.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 2_179618019_T->A 2 179618019 179618019 T A snp 309.78 1/1 24 8 0 8 1.0 intronic rs3754953 TTN AU,AD,AR NM_133432 exon148 c.226169+112T>A 0.804513 0.7758 Uncertain 2_179620951_C->T 2 179620951 179620951 C T snp 4645.77 1/1 99 164 0 164 1.0 intronic rs7585334 TTN AU,AD,AR NM_001267550 exon318 c.229210+3C>T 0.804513 0.7758 0.902810 0.8508 0.7527 0 D 1.0 P -1.021 T 0.005 T 0.01 T CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=criteria_provided\x2c_multiple_submitters\x2c_no_conflicts|criteria_provided\x2c_single_submitter;CLNACC=RCV000041121.3|RCV000126054.1;CLNDSDB=MedGen|MedGen;CLNDSDBID=CN169374|CN221809 Uncertain 2_179621477_C->T 2 179621477 179621477 C T snp 4190.77 1/1 99 149 0 149 1.0 intronic rs6433728 TTN AU,AD,AR NM_001267550 exon318 c.229786-47C>T 0.999002 1 0.999169 0.9997 1 0 D 1.000 P -1.037 T 0.0 T 0.0 T CLINSIG=probable-non-pathogenic,non-pathogenic|non-pathogenic;CLNDBN=not_specified,not_provided|not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter,criteria_provided\x2c_single_submitter|criteria_provided\x2c_single_submitter;CLNACC=RCV000155422.1,RCV000126050.1|RCV000152471.2;CLNDSDB=MedGen,MedGen|MedGen;CLNDSDBID=CN169374,CN221809|CN169374 Uncertain 2_179623758_C->T 2 179623758 179623758 C T snp 7132.77 1/1 99 250 0 250 1.0 exonic rs2291310 TTN AU,AD,AR nonsynonymous SNV NM_003319 exon43 c.G10118A p.S3373N 0.808906 0.7847 0.902353 0.8512 0.7636 0 D 0.0 P -0.979 T 0.003 T 0.003 T CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=criteria_provided\x2c_multiple_submitters\x2c_no_conflicts|criteria_provided\x2c_single_submitter;CLNACC=RCV000039852.7|RCV000126048.1;CLNDSDB=MedGen|MedGen;CLNDSDBID=CN169374|CN221809 Pathogenic 2_179623939_T->C 2 179623939 179623939 T C snp 4429.77 1/1 99 150 0 150 1.0 intronic rs6705594 TTN AU,AD,AR NM_133432 exon150 c.232161+40T>C 0.998403 0.999 0.999000 0.9996 0.9998 Uncertain 2_179629363_T->C 2 179629363 179629363 T C snp 3359.77 1/1 99 120 0 120 1.0 exonic rs4894043 TTN AU,AD,AR synonymous SNV NM_003319 exon41 c.A9741G p.E3247E 0.973642 1 0.970321 0.9921 1 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=criteria_provided\x2c_multiple_submitters\x2c_no_conflicts|criteria_provided\x2c_single_submitter;CLNACC=RCV000040976.6|RCV000126043.1;CLNDSDB=MedGen|MedGen;CLNDSDBID=CN169374|CN221809 Uncertain 2_179629461_C->T 2 179629461 179629461 C T snp 2297.77 1/1 99 87 0 87 1.0 exonic rs2291311 TTN AU,AD,AR nonsynonymous SNV NM_003319 exon41 c.G9643A p.V3215M 0.804912 0.7847 0.896509 0.8500 0.7641 0 D 0.001 P -1.065 T 0.999 D 0.871 D CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=criteria_provided\x2c_multiple_submitters\x2c_no_conflicts|criteria_provided\x2c_single_submitter;CLNACC=RCV000040961.7|RCV000126041.1;CLNDSDB=MedGen|MedGen;CLNDSDBID=CN169374|CN221809 Pathogenic 2_179632710_T->C 2 179632710 179632710 T C snp 3223.52 0/1 99 248 129 119 0.48 intronic rs2291313 TTN AU,AD,AR NM_133432 exon155 c.241002-30T>C 0.503994 0.3224 0.684146 0.6657 0.3135 Uncertain 2_179633298_G->T 2 179633298 179633298 G T snp 330.77 0/1 99 22 11 11 0.5 intronic rs4471922 TTN AU,AD,AR NM_133432 exon156 c.241661-101G>T 0.557508 0.3214 Uncertain 2_179634377_TA->- 2 179634377 179634378 TA - indel 584.73 1/1 48 17 0 17 1.0 intronic rs10596477 TTN AU,AD,AR NM_133432 exon157 c.242667-28_242667-27delTA 0.8027 0.6606 Uncertain 2_179634392_A->T 2 179634392 179634392 A T snp 467.77 0/1 99 26 12 14 0.54 intronic rs13388274 TTN AU,AD,AR NM_133432 exon157 c.242667-13A>T 0.00179712 0.006 0.0018 0.0037 Uncertain 2_179635882_C->T 2 179635882 179635882 C T snp 479.77 1/1 36 16 0 16 1.0 intronic rs4894047 TTN AU,AD,AR NM_133432 exon160 c.244199-55C>T 0.967851 1 Uncertain 2_179639297_C->T 2 179639297 179639297 C T snp 156.78 0/1 24 6 1 5 0.83 intronic rs3816781 TTN AU,AD,AR NM_133432 exon164 c.247462+97C>T 0.894169 0.8829 Uncertain 2_179642425_G->A 2 179642425 179642425 G A snp 2108.77 0/1 99 177 91 86 0.49 ncRNA_exonic;splicing rs719201 LOC101927055;TTN UN 0.911542 0.8829 0.946486 0.9588 0.8757 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=criteria_provided\x2c_multiple_submitters\x2c_no_conflicts|criteria_provided\x2c_single_submitter;CLNACC=RCV000040333.6|RCV000126016.1;CLNDSDB=MedGen|MedGen;CLNDSDBID=CN169374|CN221809 Uncertain 2_179643886_A->G 2 179643886 179643886 A G snp 1690.77 0/1 99 119 59 60 0.5 ncRNA_intronic rs2291302 LOC101927055 AU 0.919928 0.8829 0.951023 0.9608 0.8775 Uncertain 2_179643934_A->G 2 179643934 179643934 A G snp 1500.77 0/1 99 113 57 56 0.5 ncRNA_intronic rs2291301 LOC101927055 AU 0.920128 0.8829 0.952242 0.9609 0.8768 Uncertain 2_179644035_G->A 2 179644035 179644035 G A snp 1493.77 0/1 99 119 54 65 0.55 exonic rs1552280 TTN AU,AD,AR nonsynonymous SNV NM_003319 exon22 c.C3746T p.S1249L 0.920128 0.8829 0.950861 0.9606 0.8766 0 D 0.001 P -0.961 T 0.0 T 0.0 T CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=criteria_provided\x2c_multiple_submitters\x2c_no_conflicts|criteria_provided\x2c_single_submitter;CLNACC=RCV000040271.6|RCV000126009.1;CLNDSDB=MedGen|MedGen;CLNDSDBID=CN169374|CN221809 Pathogenic 2_179647823_C->T 2 179647823 179647823 C T snp 499.77 0/1 99 79 56 23 0.29 intronic rs60305852 TTN AU,AD,AR NM_133432 exon176 c.256053+32C>T 0.0828674 0.1171 0.047700 0.0408 0.1230 Uncertain 2_179647902_G->T 2 179647902 179647902 G T snp 127.77 0/1 99 20 14 6 0.3 intronic rs2306637 TTN AU,AD,AR NM_133432 exon176 c.256053+111G>T 0.0814696 0.1171 Uncertain 2_179659334_A->C 2 179659334 179659334 A C snp 1476.77 0/1 99 126 64 62 0.49 intronic rs2291303 TTN AU,AD,AR NM_133432 exon185 c.267540+56A>C 0.0934505 0.1171 ID=COSN166345;OCCURENCE=8(haematopoietic_and_lymphoid_tissue) Uncertain 2_179659912_G->A 2 179659912 179659912 G A snp 1523.77 0/1 99 130 70 60 0.46 exonic rs16866538 TTN AU,AD,AR nonsynonymous SNV NM_001256850 exon7 c.C982T p.R328C 0.236022 0.5883 0.088113 0.1238 0.5968 0 D 0.993 P -0.891 T 0.766 T 0.158 P CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=criteria_provided\x2c_multiple_submitters\x2c_no_conflicts|criteria_provided\x2c_single_submitter;CLNACC=RCV000040972.6|RCV000125767.1;CLNDSDB=MedGen|MedGen;CLNDSDBID=CN169374|CN221809 Pathogenic 2_179660030_T->C 2 179660030 179660030 T C snp 440.77 0/1 99 26 11 15 0.58 intronic rs3754950 TTN AU,AD,AR NM_133432 exon186 c.268241+51T>C 0.101837 0.1171 0.065288 0.0485 0.1260 Uncertain 2_179660102_C->T 2 179660102 179660102 C T snp 37.77 0/1 66 6 4 2 0.33 intronic rs3754949 TTN AU,AD,AR NM_133432 exon186 c.268241+123C>T 0.101438 0.1171 Uncertain 2_179667090_C->T 2 179667090 179667090 C T snp 1165.77 1/1 84 41 0 41 1.0 intronic rs3816849 TTN AU,AD,AR NM_133432 exon190 c.275330+22C>T 0.703474 0.8571 0.600261 0.6475 0.8798 Uncertain 2_179669228_TGGAG->- 2 179669228 179669232 TGGAG - indel 1864.73 0/1 99 47 23 24 0.51 intronic rs3830329 TTN AU,AD,AR NM_133432 exon191 c.277540-50_277540-46delTGGAG 0.0628994 0.1171 0.031944 Uncertain 2_179682415_G->A 2 179682415 179682415 G A snp 2495.77 1/1 99 81 0 81 1.0 intergenic rs59415652 TTN AU,AD,AR 0.314497 0.7044 Uncertain 2_179702268_A->G 2 179702268 179702268 A G snp 5571.77 1/1 99 201 0 201 1.0 exonic rs1032283 CCDC141 AU synonymous SNV NM_173648 exon23 c.T3678C p.P1226P 0.988019 1 0.988467 0.9970 1 Uncertain 2_179702577_-->GG 2 179702577 179702577 - GG indel 402.74 1/1 27 10 0 10 1.0 intronic rs3045731 CCDC141 AU NM_173648 exon2 c.3572+106insGG 0.885583 0.9911 Uncertain 2_179702610_C->T 2 179702610 179702610 C T snp 99.28 1/1 9 3 0 3 1.0 intronic rs2078403 CCDC141 AU NM_173648 exon2 c.3572+139C>T 0.664537 0.7599 Uncertain 2_179710706_A->G 2 179710706 179710706 A G snp 50.74 1/1 6 2 0 2 1.0 intronic rs6433738 CCDC141 AU NM_173648 exon3 c.11570+237A>G 0.894968 0.9911 Uncertain 2_179714675_C->T 2 179714675 179714675 C T snp 176.9 1/1 15 6 0 6 1.0 intronic rs4894055 CCDC141 AU NM_173648 exon4 c.15876-100C>T 0.882987 0.9911 Uncertain 2_179719966_A->T 2 179719966 179719966 A T snp 528.77 0/1 99 40 22 18 0.45 intronic rs1872203 CCDC141 AU NM_173648 exon6 c.21174-107A>T 0.380591 0.2887 Uncertain 2_179732980_A->G 2 179732980 179732980 A G snp 854.77 1/1 63 28 0 28 1.0 intronic rs10165177 CCDC141 AU NM_173648 exon9 c.34033+48A>G 0.810703 0.9425 0.857835 0.8330 0.9749 Uncertain 2_179732997_A->T 2 179732997 179732997 A T snp 606.77 1/1 45 19 0 19 1.0 intronic rs10165253 CCDC141 AU NM_173648 exon9 c.34033+65A>T 0.495008 0.7073 Uncertain 2_179737144_C->A 2 179737144 179737144 C A snp 99.28 1/1 9 3 0 3 1.0 intronic rs12693170 CCDC141 AU NM_173648 exon12 c.38140+105C>A 0.702875 0.9772 Uncertain 2_179749501_A->G 2 179749501 179749501 A G snp 373.77 0/1 99 21 8 13 0.62 intronic rs1016800 CCDC141 AU NM_173648 exon14 c.50728-126A>G 0.107228 0.1319 Uncertain 2_179753245_C->T 2 179753245 179753245 C T snp 454.77 0/1 99 46 25 21 0.46 intronic rs7573293 CCDC141 AU NM_173648 exon16 c.54354-8C>T 0.516374 0.2679 0.6352 0.2942 Uncertain 2_179753549_G->A 2 179753549 179753549 G A snp 109.77 0/1 99 13 8 5 0.38 intronic rs1873164 CCDC141 AU NM_173648 exon16 c.54496+154G>A 0.621805 0.3006 Uncertain 2_179809500_C->T 2 179809500 179809500 C T snp 317.78 1/1 24 12 0 12 1.0 intronic rs9677932 CCDC141 AU NM_173648 exon19 c.110479+122C>T 0.974641 1 Uncertain 2_179839833_A->G 2 179839833 179839833 A G snp 877.77 0/1 99 92 52 40 0.43 exonic rs10930846 CCDC141 AU synonymous SNV NM_173648 exon4 c.T477C p.S159S 0.324481 0.7004 0.2962 0.6818 Uncertain 2_179839962_T->C 2 179839962 179839962 T C snp 334.77 0/1 99 21 9 12 0.57 intronic rs75704987 CCDC141 AU NM_173648 exon21 c.140993+70T>C 0.08127 0.1032 Uncertain 2_179914347_A->G 2 179914347 179914347 A G snp 46.77 0/1 31 3 1 2 0.67 intronic rs16866620 CCDC141 AU NM_173648 exon24 c.215667-219A>G 0.124601 0.13 Uncertain 2_179974761_A->C 2 179974761 179974761 A C snp 1288.77 0/1 99 74 28 46 0.62 splicing rs2305170 SESTD1 AU NM_178123 exon1 c.130+6A>C 0.0557109 0.0615 0.048747 0.0740 0.0687 Pathogenic 2_179979709_A->C 2 179979709 179979709 A C snp 44.77 0/1 31 3 1 2 0.67 intronic rs140723803 SESTD1 AU NM_178123 exon3 c.5166-82A>C 0.00139776 0.0069 Uncertain 2_179980070_G->A 2 179980070 179980070 G A snp 358.77 0/1 99 26 14 12 0.46 intronic rs2044479 SESTD1 AU NM_178123 exon3 c.5358+87G>A 0.576478 0.2976 Uncertain 2_179982126_AGAT->- 2 179982126 179982129 AGAT - indel 364.73 0/1 99 25 17 8 0.32 intronic rs3217565 SESTD1 AU NM_178123 exon5 c.7633-132_7633-129delAGAT 0.477236 0.1835 Uncertain 2_179988395_-->A 2 179988395 179988395 - A indel 390.73 1/1 51 18 0 18 1.0 intronic rs397701051 SESTD1 AU NM_178123 exon7 c.13816-46insA 0.6012 0.6134 Uncertain 2_179989039_G->A 2 179989039 179989039 G A snp 253.77 0/1 99 28 16 12 0.43 intronic rs2289992 SESTD1 AU NM_178123 exon8 c.14465-51G>A 0.474241 0.1835 0.466853 Uncertain 2_179996977_T->C 2 179996977 179996977 T C snp 426.77 0/1 99 37 17 20 0.54 intronic rs17363323 SESTD1 AU NM_178123 exon9 c.22405-53T>C 0.0549121 0.0615 Uncertain 2_179997178_T->- 2 179997178 179997178 T - indel 400.73 0/1 99 41 23 18 0.44 intronic rs3214766 SESTD1 AU NM_178123 exon9 c.22528+25delT 0.47484 0.1825 0.474353 0.3774 0.1802 Uncertain 2_180015942_A->- 2 180015942 180015942 A - indel 388.73 0/1 99 19 7 12 0.63 intronic rs148589684 SESTD1 AU NM_178123 exon13 c.41379-62delA 0.0549121 0.0615 Uncertain 2_180016141_G->C 2 180016141 180016141 G C snp 938.77 0/1 99 86 42 44 0.51 intronic rs17363449 SESTD1 AU NM_178123 exon13 c.41493+23G>C 0.0551118 0.0615 0.049784 0.0826 0.0797 Uncertain 2_180036775_G->A 2 180036775 180036775 G A snp 215.77 0/1 99 22 14 8 0.36 intronic rs10497534 SESTD1 AU NM_178123 exon14 c.62221-71G>A 0.0549121 0.0615 Uncertain 2_180039068_C->T 2 180039068 180039068 C T snp 4294.77 1/1 99 148 0 148 1.0 intronic rs13013868 SESTD1 AU NM_178123 exon15 c.66549-2106C>T 0.857628 0.8849 Uncertain 2_180047746_G->C 2 180047746 180047746 G C snp 1136.77 0/1 99 75 33 42 0.56 intronic rs1446673 SESTD1 AU NM_178123 exon16 c.73181-60G>C 0.635783 0.8175 Uncertain 2_180047908_T->C 2 180047908 180047908 T C snp 3664.77 1/1 99 134 0 134 1.0 exonic rs6757681 SESTD1 AU synonymous SNV NM_178123 exon3 c.A63G p.K21K 0.859625 0.9077 0.791327 0.8187 0.9138 Uncertain 2_180056437_T->C 2 180056437 180056437 T C snp 146.77 0/1 99 14 7 7 0.5 intronic rs117511352 SESTD1 AU NM_178123 exon17 c.81888-76T>C 0.00738818 0.0337 Uncertain 2_180308335_C->G 2 180308335 180308335 C G snp 40.77 0/1 69 9 6 3 0.33 intronic rs10171283 ZNF385B AU NM_001113398 exon1 c.219+140C>G 0.73103 0.7371 Uncertain 2_180311207_G->A 2 180311207 180311207 G A snp 552.77 0/1 99 43 24 19 0.44 intronic rs2271760 ZNF385B AU NM_001113398 exon4 c.3275-44G>A 0.190495 0.3274 0.089497 0.1538 0.3663 Uncertain 2_180383498_C->A 2 180383498 180383498 C A snp 56.74 1/1 6 2 0 2 1.0 intronic rs4567894 ZNF385B AU NM_001113398 exon6 c.75389+133C>A 0.767971 0.9246 Uncertain 2_180610350_G->A 2 180610350 180610350 G A snp 3307.77 1/1 99 120 0 120 1.0 intronic rs1533383 ZNF385B AU NM_001113397 exon8 c.302463-89G>A 0.169129 0.4484 Uncertain 2_180610351_G->C 2 180610351 180610351 G C snp 3372.77 1/1 99 121 0 121 1.0 intronic rs1533384 ZNF385B AU NM_001113397 exon8 c.302463-88G>C 0.169129 0.4484 Uncertain 2_180725481_T->C 2 180725481 180725481 T C snp 1304.77 1/1 90 58 0 58 1.0 intronic rs259816 ZNF385B AU NM_152520 exon10 c.417851-346T>C 0.963259 1 Uncertain 2_180810180_C->T 2 180810180 180810180 C T snp 2100.77 0/1 99 183 97 86 0.47 exonic rs6433817 CWC22 AU synonymous SNV NM_020943 exon20 c.G2403A p.A801A 0.606629 0.5317 0.679093 0.6478 0.5456 Uncertain 2_180810202_C->T 2 180810202 180810202 C T snp 2690.77 0/1 99 209 99 110 0.53 exonic rs1046356 CWC22 AU nonsynonymous SNV NM_020943 exon20 c.G2381A p.R794Q 0.0952476 0.2312 0.059946 0.0737 0.2434 0.16 T 0.767 P -1.003 T 0.414 T 0.038 T Pathogenic 2_180810264_A->T 2 180810264 180810264 A T snp 7207.77 1/1 99 250 0 250 1.0 exonic rs6433818 CWC22 AU nonsynonymous SNV NM_020943 exon20 c.T2319A p.S773R 0.93131 0.9931 0.896459 0.8982 0.9980 1 T 0.000 P -1.030 T 0.0 T 0.0 T Pathogenic 2_180815528_A->T 2 180815528 180815528 A T snp 986.77 0/1 99 79 37 42 0.53 intronic rs2304858 CWC22 AU NM_020943 exon3 c.5696-23A>T 0.608427 0.5327 0.678730 0.6667 0.5737 Uncertain 2_180835589_A->G 2 180835589 180835589 A G snp 3224.61 1/1 99 105 0 105 1.0 splicing rs4894140 CWC22 AU NM_020943 exon11 c.25728+6A>G 0.995807 1 0.995663 0.9986 1 Pathogenic 2_180835792_T->A 2 180835792 180835792 T A snp 1189.77 0/1 99 100 54 46 0.46 exonic rs3768837 CWC22 AU synonymous SNV NM_020943 exon9 c.A816T p.V272V 0.822085 0.7579 0.823708 0.8317 0.7626 Uncertain 2_180837776_T->G 2 180837776 180837776 T G snp 116.77 0/1 99 15 10 5 0.33 intronic rs72960679 CWC22 AU NM_020943 exon13 c.28064-143T>G 0.0974441 0.2351 Uncertain 2_180837806_T->A 2 180837806 180837806 T A snp 1498.77 1/1 99 45 0 45 1.0 intronic rs6433821 CWC22 AU NM_020943 exon13 c.28064-113T>A 0.923722 0.9931 Uncertain 2_180843126_C->T 2 180843126 180843126 C T snp 220.84 1/1 18 6 0 6 1.0 intronic rs2367990 CWC22 AU NM_020943 exon15 c.33190+81C>T 0.919928 0.9931 Uncertain 2_180846743_G->T 2 180846743 180846743 G T snp 538.77 0/1 99 42 18 24 0.57 intronic rs3738943 CWC22 AU NM_020943 exon16 c.36869+19G>T 0.832268 0.7579 0.850874 0.8438 0.7852 Uncertain 2_181851996_T->G 2 181851996 181851996 T G snp 1037.77 0/1 99 86 46 40 0.47 intronic rs79974548 UBE2E3 AU NM_006357 exon3 c.2051+3176T>G 0.166334 0.0923 Uncertain 2_181851997_T->A 2 181851997 181851997 T A snp 1019.77 0/1 99 86 46 40 0.47 intronic rs78376944 UBE2E3 AU NM_006357 exon3 c.2051+3177T>A 0.166334 0.0923 Uncertain 2_181854692_C->T 2 181854692 181854692 C T snp 544.77 0/1 99 40 20 20 0.5 intronic rs61080739 UBE2E3 AU NM_006357 exon3 c.2051+5872C>T 0.165935 0.0933 0.2355 0.0895 0 D 0.0 P -0.994 T Uncertain 2_181927343_G->T 2 181927343 181927343 G T snp 37.77 0/1 66 6 4 2 0.33 intronic rs1401135 UBE2E3 AU NM_006357 exon6 c.80748-174G>T 0.167133 0.0942 Uncertain 2_181927360_A->G 2 181927360 181927360 A G snp 148.77 0/1 99 11 5 6 0.55 intronic rs1401134 UBE2E3 AU NM_006357 exon6 c.80748-157A>G 0.167133 0.0942 Uncertain 2_182359613_G->A 2 182359613 182359613 G A snp 354.78 1/1 27 11 0 11 1.0 intronic rs165419 ITGA4 AU NM_000885 exon12 c.37158+74G>A 0.972045 1 Uncertain 2_182360182_T->C 2 182360182 182360182 T C snp 2669.77 1/1 99 102 0 102 1.0 intronic rs2305586 ITGA4 AU NM_000885 exon13 c.37762+39T>C 0.140575 0.2361 0.094457 0.1512 0.2679 Uncertain 2_182363613_T->A 2 182363613 182363613 T A snp 425.77 1/1 33 11 0 11 1.0 intronic rs1349196 ITGA4 AU NM_000885 exon15 c.41123+109T>A 0.965655 1 Uncertain 2_182374534_A->G 2 182374534 182374534 A G snp 1344.77 1/1 60 46 1 45 0.98 exonic rs1143674 ITGA4 AU synonymous SNV NM_000885 exon16 c.A1845G p.T615T 0.661542 0.631 0.600461 0.6187 0.6434 Uncertain 2_182376546_T->G 2 182376546 182376546 T G snp 1804.77 1/1 99 71 0 71 1.0 intronic rs1466109 ITGA4 AU NM_000885 exon17 c.54121+44T>G 0.973642 1 0.976203 0.9927 1 Uncertain 2_182387133_A->G 2 182387133 182387133 A G snp 1038.77 1/1 75 31 0 31 1.0 intronic rs7602504 ITGA4 AU NM_000885 exon18 c.64687+65A>G 0.661342 0.625 Uncertain 2_182394145_C->T 2 182394145 182394145 C T snp 54.74 1/1 6 2 0 2 1.0 intronic rs3770104 ITGA4 AU NM_000885 exon23 c.71886-122C>T 0.790535 0.8413 Uncertain 2_182395345_G->A 2 182395345 182395345 G A snp 7290.77 1/1 99 249 0 249 1.0 exonic rs1143676 ITGA4 AU nonsynonymous SNV NM_000885 exon24 c.G2633A p.R878Q 0.790535 0.8413 0.701595 0.7367 0.8483 0.48 T 0.0 P -1.025 T 0.063 T 0.041 T Pathogenic 2_182399097_T->C 2 182399097 182399097 T C snp 2510.77 1/1 99 94 0 94 1.0 exonic rs7562325 ITGA4 AU synonymous SNV NM_000885 exon26 c.T2883C p.H961H 0.656949 0.621 0.603820 0.6263 0.6462 Uncertain 2_182399497_-->TT 2 182399497 182399497 - TT indel 845.73 1/1 78 31 0 31 1.0 intronic rs11418738 ITGA4 AU NM_000885 exon27 c.77161-45insTT 0.534744 0.6101 0.5697 0.6447 Uncertain 2_182399638_A->G 2 182399638 182399638 A G snp 855.77 1/1 63 35 0 35 1.0 exonic rs2124443 ITGA4 AU synonymous SNV NM_000885 exon27 c.A2979G p.L993L 0.997404 1 0.998737 0.9994 0.9994 Uncertain 2_182402790_G->A 2 182402790 182402790 G A snp 185.9 1/1 15 6 0 6 1.0 UTR3 rs6747500 CERKL AU 0.767572 0.8413 0.7689 0.8393 Uncertain 2_182403792_-->T 2 182403792 182403792 - T indel 7779.73 1/1 99 172 0 172 1.0 intronic rs57234957 CERKL AU NM_001160277 exon2 c.908-26insT 0.991214 1 0.992972 0.9975 1 Uncertain 2_182403851_G->A 2 182403851 182403851 G A snp 7101.77 1/1 99 248 0 248 1.0 exonic rs10180793 CERKL AU synonymous SNV NM_001030311 exon13 c.C1584T p.D528D 0.991214 1 0.993234 0.9975 1 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000152986.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 2_182412633_-->ACACACACACACAC 2 182412633 182412633 - ACACACACACACAC indel 9223.73 1/1 99 70 0 70 1.0 intronic rs139036113 CERKL AU NM_001160277 exon5 c.9664+59insACACACACACACAC Uncertain 2_182412723_-->GT 2 182412723 182412723 - GT indel 403.74 1/1 27 10 0 10 1.0 intronic rs34890422 CERKL AU NM_001160277 exon5 c.9664+149insGT 0.820088 0.8413 Uncertain 2_182413259_A->G 2 182413259 182413259 A G snp 1352.77 1/1 96 49 0 49 1.0 intronic rs12997453 CERKL AU NM_001160277 exon6 c.10361-12A>G 0.648363 0.621 0.593125 0.6239 0.6396 Uncertain 2_182413602_A->T 2 182413602 182413602 A T snp 2554.77 1/1 99 92 0 92 1.0 intronic rs13003064 CERKL AU NM_001160277 exon7 c.10674+18A>T 0.647963 0.621 0.593111 0.6181 0.6390 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000152988.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 2_182521578_G->A 2 182521578 182521578 G A snp 1406.77 0/1 99 150 88 62 0.41 exonic rs1473295 CERKL AU synonymous SNV NM_001030311 exon1 c.C156T p.F52F 0.507388 0.7312 0.402030 0.5257 0.7190 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000152991.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 2_182543455_T->C 2 182543455 182543455 T C snp 2939.77 1/1 99 99 0 99 1.0 exonic rs1801262 NEUROD1 AU,AD nonsynonymous SNV NM_002500 exon2 c.A133G p.T45A 0.770767 0.9196 0.669383 0.7027 0.9164 0.76 T 0.0 P -0.953 T 0.0 T 0.0 T ID=CM032967;DIS=Diabetes mellitus, type 1, association with;TAG=DP;PUB=12639765 DP Pathogenic 2_182763529_A->T 2 182763529 182763529 A T snp 43.77 0/1 72 5 3 2 0.4 intronic rs2059702 SSFA2 AU NM_006751 exon5 c.6813-77A>T 0.161342 0.0843 0.130644 Uncertain 2_182763586_G->A 2 182763586 182763586 G A snp 82.77 0/1 99 12 7 5 0.42 intronic rs3731693 SSFA2 AU NM_006751 exon5 c.6813-20G>A 0.0846645 0.0843 0.056675 0.0487 0.1045 Uncertain 2_182765375_A->G 2 182765375 182765375 A G snp 814.77 0/1 99 55 20 35 0.64 intronic rs79209485 SSFA2 AU NM_006751 exon7 c.8629-47A>G 0.0790735 0.0843 0.045981 0.0502 0.1124 Uncertain 2_182775287_T->C 2 182775287 182775287 T C snp 1056.77 0/1 99 89 42 47 0.53 intronic rs79765809 SSFA2 AU NM_006751 exon9 c.17905+589T>C 0.0549121 0.0853 Uncertain 2_182780307_G->A 2 182780307 182780307 G A snp 1987.77 0/1 99 132 51 81 0.61 exonic rs75716247 SSFA2 AU nonsynonymous SNV NM_001287504 exon10 c.G1481A p.G494D 0.0844649 0.0843 0.056205 0.0486 0.1043 1 T 0.000 P -0.993 T 0.0 T 0.0 T Pathogenic 2_182783848_G->A 2 182783848 182783848 G A snp 40.77 0/1 33 3 1 2 0.67 intronic rs3815877 SSFA2 AU NM_006751 exon14 c.27229-174G>A 0.0547125 0.0843 Uncertain 2_182783994_C->A 2 182783994 182783994 C A snp 1431.77 0/1 99 134 70 64 0.48 intronic rs2288330 SSFA2 AU NM_006751 exon14 c.27229-28C>A 0.0844649 0.0843 0.056512 0.0488 0.1049 Uncertain 2_182792984_T->A 2 182792984 182792984 T A snp 1451.77 0/1 99 97 33 64 0.66 exonic rs2303554 SSFA2 AU nonsynonymous SNV NM_001287504 exon15 c.T3247A p.Y1083N 0.08127 0.0843 0.0626 0.0925 0.59 T 0.000 P -0.946 T 0.0 T 0.0 T Pathogenic 2_182794534_G->A 2 182794534 182794534 G A snp 251.8 1/1 21 8 0 8 1.0 UTR3 rs1051085 SSFA2 AU 0.851438 0.9901 Uncertain 2_182852729_A->G 2 182852729 182852729 A G snp 841.77 0/1 99 65 39 26 0.4 intronic rs16867515 PPP1R1C AU NM_001261425 exon2 c.1789+103A>G 0.115815 0.1329 Uncertain 2_182928555_G->C 2 182928555 182928555 G C snp 4661.77 1/1 99 180 0 180 1.0 intronic rs1196161 PPP1R1C AU NM_001261425 exon4 c.77681+37G>C 0.88139 0.8006 0.924131 0.9351 0.8063 Uncertain 2_182981846_G->C 2 182981846 182981846 G C snp 648.77 1/1 48 19 0 19 1.0 intronic rs1882211 PPP1R1C AU NM_001261425 exon5 c.131096-87G>C 0.605631 0.5169 Uncertain 2_182981968_A->G 2 182981968 182981968 A G snp 1734.77 0/1 99 147 73 74 0.5 exonic rs1882212 PPP1R1C AU synonymous SNV NM_001080545 exon5 c.A276G p.A92A 0.340256 0.2183 0.312019 0.3302 0.3393 Uncertain 2_183033021_A->- 2 183033021 183033021 A - indel 443.73 0/1 99 60 13 47 0.78 intronic rs199755981 PDE1A AU NM_001258313 exon1 c.44+4delA 0.314297 0.3383 0.3561 0.4207 ID=COSM1735845;OCCURENCE=1(central_nervous_system) Uncertain 2_183050963_C->G 2 183050963 183050963 C G snp 96.28 1/1 9 3 0 3 1.0 intronic rs1368216 PDE1A AU NM_001258313 exon2 c.17833+157C>G 0.254593 0.3224 Uncertain 2_183051421_A->G 2 183051421 183051421 A G snp 176.9 1/1 15 6 0 6 1.0 intronic rs7597711 PDE1A AU NM_001258313 exon3 c.18342+106A>G 0.771166 0.9187 Uncertain 2_183066377_-->AAAA 2 183066377 183066377 - AAAA indel 726.73 ./1 99 31 0 31 1.0 intronic PDE1A AU NM_001258313 exon6 c.33441-37insAAAA Uncertain 2_183066377_-->AA 2 183066377 183066377 - AA indel 726.73 ./1 99 31 0 31 1.0 intronic rs56413404 PDE1A AU NM_001258313 exon6 c.33441-37insAA Uncertain 2_183070619_A->T 2 183070619 183070619 A T snp 490.77 0/1 99 38 20 18 0.47 intronic rs1344773 PDE1A AU NM_001258313 exon7 c.37693-47A>T 0.255591 0.2431 0.285901 0.3181 0.2916 Uncertain 2_183070911_G->A 2 183070911 183070911 G A snp 407.77 0/1 99 26 12 14 0.54 intronic rs55747252 PDE1A AU NM_001258313 exon7 c.37819+119G>A 0.225839 0.2421 Uncertain 2_183088584_G->A 2 183088584 183088584 G A snp 1479.77 0/1 99 101 38 63 0.62 intronic rs3754929 PDE1A AU NM_001258313 exon8 c.55617-6G>A 0.726438 0.7589 0.695662 0.6868 0.7178 Uncertain 2_183106758_T->G 2 183106758 183106758 T G snp 899.77 0/1 99 70 34 36 0.51 intronic rs2568667 PDE1A AU NM_001258314 exon13 c.73817-32T>G 0.757188 0.7609 Uncertain 2_183129242_A->G 2 183129242 183129242 A G snp 248.77 0/1 99 25 15 10 0.4 intronic rs10930999 PDE1A AU NM_001258313 exon13 c.96168+101A>G 0.257188 0.3264 Uncertain 2_183584755_G->A 2 183584755 183584755 G A snp 235.77 0/1 99 17 7 10 0.59 exonic rs6729801 DNAJC10 AU nonsynonymous SNV NM_001271581 exon4 c.G226A p.D76N 0.352037 0.2996 0.435568 0.4876 0.2820 0.49 T 0.955 P -0.919 T 0.006 T 0.001 T Pathogenic 2_183593452_T->- 2 183593452 183593452 T - indel 128.73 0/1 99 21 12 9 0.43 intronic rs3832045 DNAJC10 AU NM_018981 exon6 c.10572+67delT 0.39357 0.3938 Uncertain 2_183593697_C->T 2 183593697 183593697 C T snp 2112.77 0/1 99 203 105 98 0.48 exonic rs288280 DNAJC10 AU synonymous SNV NM_001271581 exon7 c.C609T p.S203S 0.66254 0.5109 0.696832 0.6374 0.4907 Uncertain 2_183597063_T->G 2 183597063 183597063 T G snp 395.77 0/1 99 30 16 14 0.47 intronic rs288282 DNAJC10 AU NM_018981 exon10 c.14412-162T>G 0.501597 0.4137 Uncertain 2_183597318_A->G 2 183597318 183597318 A G snp 1400.77 0/1 99 122 60 62 0.51 intronic rs825660 DNAJC10 AU NM_018981 exon10 c.14456+49A>G 0.67492 0.5109 0.707135 0.6431 0.4922 Uncertain 2_183616592_C->T 2 183616592 183616592 C T snp 4345.77 1/1 99 151 0 151 1.0 intronic rs3098359 DNAJC10 AU NM_018981 exon15 c.33699+80C>T 1 1 Uncertain 2_183616748_G->C 2 183616748 183616748 G C snp 1381.77 0/1 99 124 67 57 0.46 intronic rs3115425 DNAJC10 AU NM_018981 exon16 c.33985-50G>C 0.622005 0.5109 0.658081 0.6179 0.4906 Uncertain 2_183622320_ATAAT->- 2 183622320 183622324 ATAAT - indel 294.73 0/1 99 7 2 5 0.71 intronic rs141152570 DNAJC10 AU NM_018981 exon19 c.39605-98_39605-94delATAAT 0.392572 0.3938 Uncertain 2_183622547_T->G 2 183622547 183622547 T G snp 349.77 0/1 99 30 15 15 0.5 exonic rs288334 DNAJC10 AU nonsynonymous SNV NM_001271581 exon18 c.T1800G p.H600Q 0.66254 0.5109 0.697247 0.6401 0.4932 0.7 T 1.000 P -1.033 T 0.0 T 0.001 T Pathogenic 2_183627504_A->G 2 183627504 183627504 A G snp 1617.77 0/1 99 149 77 72 0.48 exonic rs192618 DNAJC10 AU synonymous SNV NM_001271581 exon21 c.A2103G p.K701K 0.623403 0.5109 0.662233 0.6194 0.4916 Uncertain 2_183627619_C->G 2 183627619 183627619 C G snp 288.77 0/1 99 20 11 9 0.45 intronic rs190830 DNAJC10 AU NM_018981 exon22 c.44715+91C>G 0.665335 0.5109 Uncertain 2_183723722_A->G 2 183723722 183723722 A G snp 52.74 1/1 6 2 0 2 1.0 intronic rs6433992 FRZB AO NM_001463 exon5 c.23986+161A>G 0.578874 0.4296 Uncertain 2_183793383_T->C 2 183793383 183793383 T C snp 247.8 1/1 21 7 0 7 1.0 intronic rs9333279 NCKAP1 AU NM_205842 exon4 c.3081-127T>C 0.621206 0.8552 Uncertain 2_183793398_A->G 2 183793398 183793398 A G snp 541.77 1/1 42 17 0 17 1.0 intronic rs9333280 NCKAP1 AU NM_205842 exon4 c.3081-112A>G 0.704273 0.9663 Uncertain 2_183799558_G->C 2 183799558 183799558 G C snp 973.77 1/1 69 36 0 36 1.0 exonic rs9288088 NCKAP1 AU synonymous SNV NM_205842 exon27 c.C2799G p.V933V 0.703674 0.9663 0.634562 0.7903 0.9572 Uncertain 2_183827018_G->A 2 183827018 183827018 G A snp 2082.77 1/1 99 77 0 77 1.0 intronic rs2271671 NCKAP1 AU NM_205842 exon14 c.36577+12G>A 0.619808 0.8552 0.578976 0.7185 0.8620 Uncertain 2_183851058_C->T 2 183851058 183851058 C T snp 341.78 1/1 27 10 0 10 1.0 intronic rs10185562 NCKAP1 AU NM_205842 exon22 c.60526+103C>T 0.983626 1 Uncertain 2_183859473_T->C 2 183859473 183859473 T C snp 1490.77 0/1 99 151 80 71 0.47 intronic rs16823914 NCKAP1 AU NM_205842 exon24 c.69137-93T>C 0.107428 0.1944 Uncertain 2_183960522_T->C 2 183960522 183960522 T C snp 699.77 1/1 54 19 0 19 1.0 UTR3 rs13399265 DUSP19 AU 0.589058 0.8829 Uncertain 2_183988984_C->G 2 183988984 183988984 C G snp 517.77 1/1 39 16 0 16 1.0 intronic rs2705719 NUP35 AU 0.958666 1 Uncertain 2_183995742_A->C 2 183995742 183995742 A C snp 418.77 0/1 99 43 22 21 0.49 UTR5 rs925803 NUP35 AU 0.765575 0.5377 0.7784 0.5556 Uncertain 2_184022015_G->C 2 184022015 184022015 G C snp 261.77 0/1 99 17 8 9 0.53 intronic rs3791249 NUP35 AU NM_001287584 exon7 c.29146-156G>C 0.555312 0.754 Uncertain 2_184024143_T->C 2 184024143 184024143 T C snp 179.77 0/1 99 11 5 6 0.55 intronic rs3748883 NUP35 AU NM_001287584 exon9 c.31190-72T>C 0.257588 0.4633 Uncertain 2_184024190_A->G 2 184024190 184024190 A G snp 899.77 0/1 99 57 24 33 0.58 intronic rs3748884 NUP35 AU NM_001287584 exon9 c.31190-25A>G 0.194688 0.1171 0.219779 0.1752 0.1344 Uncertain 2_184024511_T->C 2 184024511 184024511 T C snp 632.77 0/1 99 28 10 18 0.64 intronic rs34967913 NUP35 AU NM_001287584 exon9 c.31355+131T>C 0.156749 0.1171 Uncertain 2_184024586_A->T 2 184024586 184024586 A T snp 93.28 1/1 9 3 0 3 1.0 intronic rs6434005 NUP35 AU NM_001287584 exon9 c.31355+206A>T 0.857628 0.8681 Uncertain 2_184025576_C->T 2 184025576 184025576 C T snp 44.77 0/1 31 3 1 2 0.67 intronic rs6714769 NUP35 AU NM_001287584 exon10 c.32756-205C>T 0.552516 0.753 Uncertain 2_185463815_-->CT 2 185463815 185463815 - CT indel 3071.73 0/1 99 170 71 99 0.58 intronic rs10689377 ZNF804A AU NM_194250 exon1 c.111+18insCT 0.324281 0.1369 0.414137 0.3533 0.1581 Uncertain 2_185798504_A->C 2 185798504 185798504 A C snp 3102.77 1/1 99 108 0 108 1.0 intronic rs4667000 ZNF804A AU NM_194250 exon3 c.334774+44A>C 0.48722 0.8244 0.429132 0.5788 0.8410 Uncertain 2_185800905_A->T 2 185800905 185800905 A T snp 6803.77 1/1 99 249 0 249 1.0 exonic rs12476147 ZNF804A AU nonsynonymous SNV NM_194250 exon4 c.A782T p.Q261L 0.619209 0.8373 0.577745 0.6448 0.8464 0.22 T 0.0 P -1.065 T 0.0 T 0.0 T Pathogenic 2_185801747_G->A 2 185801747 185801747 G A snp 2928.77 1/1 99 97 0 97 1.0 exonic rs4667001 ZNF804A AU nonsynonymous SNV NM_194250 exon4 c.G1624A p.E542K 0.490216 0.8383 0.430290 0.5776 0.8500 0.1 T 0.0 P -1.050 T 0.012 T 0.006 T Pathogenic 2_185801755_A->G 2 185801755 185801755 A G snp 2789.77 1/1 99 90 0 90 1.0 exonic rs4667002 ZNF804A AU synonymous SNV NM_194250 exon4 c.A1632G p.T544T 0.786741 0.8839 0.777416 0.7949 0.8889 Uncertain 2_185802211_-->ACA 2 185802211 185802211 - ACA indel 3466.73 1/1 99 65 0 65 1.0 exonic rs3046266 ZNF804A AU nonframeshift insertion NM_194250 exon4 c.2088_2089insACA p.N696delinsNT 0.490415 0.8383 0.428903 0.5768 0.8497 Uncertain 2_185802243_C->A 2 185802243 185802243 C A snp 2287.77 1/1 99 72 0 72 1.0 exonic rs1366842 ZNF804A AU nonsynonymous SNV NM_194250 exon4 c.C2120A p.T707K 0.490016 0.8383 0.428835 0.5777 0.8503 1 T 0.0 P -0.942 T 0.002 T 0.002 T Pathogenic 2_185802363_A->G 2 185802363 185802363 A G snp 4043.77 1/1 99 142 1 141 0.99 exonic rs12477430 ZNF804A AU nonsynonymous SNV NM_194250 exon4 c.A2240G p.H747R 0.704273 0.8671 0.684635 0.7139 0.8709 0.4 T 0.0 P -1.048 T 0.0 T 0.0 T Pathogenic 2_186603605_-->G 2 186603605 186603605 - G indel 2598.73 1/1 99 78 0 78 1.0 exonic rs35617283 FSIP2 AU frameshift insertion NM_173651 exon1 c.252dupG p.E84fs 0.338458 0.4127 0.3172 0.375 Pathogenic 2_186611566_C->A 2 186611566 186611566 C A snp 3026.77 1/1 99 102 1 101 0.99 intronic rs6758484 FSIP2 AU NM_173651 exon6 c.8183+29C>A 0.955272 0.9425 0.9831 0.9420 Uncertain 2_186611834_A->G 2 186611834 186611834 A G snp 71.77 0/1 30 4 1 3 0.75 intronic rs58696152 FSIP2 AU NM_173651 exon7 c.8685-205A>G 0.326278 0.4097 Uncertain 2_186625646_TTGA->- 2 186625646 186625649 TTGA - indel 348.73 0/1 99 10 4 6 0.6 intronic rs71411142 FSIP2 AU NM_173651 exon10 c.22360-68_22360-65delTTGA 0.326078 0.4097 Uncertain 2_186625880_C->G 2 186625880 186625880 C G snp 38.77 0/1 67 7 3 4 0.57 intronic rs10170781 FSIP2 AU NM_173651 exon10 c.22476+50C>G 0.0892572 0.0615 0.1050 0.0575 Uncertain 2_186629191_T->G 2 186629191 186629191 T G snp 413.77 0/1 99 34 18 16 0.47 intronic rs12998112 FSIP2 AU NM_173651 exon13 c.25874-37T>G 0.325879 0.4097 0.3100 0.3687 Uncertain 2_186653546_G->A 2 186653546 186653546 G A snp 2522.77 0/1 99 195 95 100 0.51 exonic rs3752671 FSIP2 AU synonymous SNV NM_173651 exon16 c.G1950A p.T650T 0.0880591 0.0625 0.0967 0.0510 Uncertain 2_186655726_G->A 2 186655726 186655726 G A snp 2441.77 1/1 99 84 0 84 1.0 exonic rs10931199 FSIP2 AU nonsynonymous SNV NM_173651 exon16 c.G4130A p.R1377Q 0.956669 0.9425 0.9842 0.9541 1 T 0.0 P -0.961 T Pathogenic 2_186656657_C->T 2 186656657 186656657 C T snp 1122.77 0/1 99 91 43 48 0.53 exonic rs10173807 FSIP2 AU synonymous SNV NM_173651 exon16 c.C5061T p.N1687N 0.630391 0.5357 0.6774 0.5737 Uncertain 2_186667360_A->C 2 186667360 186667360 A C snp 2479.77 0/1 99 214 101 113 0.53 exonic rs7565527 FSIP2 AU nonsynonymous SNV NM_173651 exon17 c.A13594C p.I4532L 0.0896565 0.0635 0.0964 0.0515 0.27 T 0.0 P -1.027 T Pathogenic 2_186668935_A->G 2 186668935 186668935 A G snp 927.77 0/1 99 115 70 45 0.39 exonic rs13003744 FSIP2 AU nonsynonymous SNV NM_173651 exon17 c.A15169G p.M5057V 0.325679 0.4077 0.3199 0.3763 1 T 0.0 P -0.926 T Pathogenic 2_186670104_A->C 2 186670104 186670104 A C snp 3167.77 1/1 99 119 1 118 0.99 exonic rs7576532 FSIP2 AU nonsynonymous SNV NM_173651 exon17 c.A16338C p.E5446D 0.95607 0.9425 0.978639 0.9763 0.9387 1 T 0.0 P -0.983 T Pathogenic 2_186670979_T->C 2 186670979 186670979 T C snp 1918.77 0/1 99 174 87 87 0.5 exonic rs4666689 FSIP2 AU nonsynonymous SNV NM_173651 exon17 c.T17213C p.I5738T 0.865815 0.878 0.862876 0.8752 0.8719 0.65 T 0.0 P -0.991 T Pathogenic 2_186672897_A->G 2 186672897 186672897 A G snp 838.77 0/1 99 75 39 36 0.48 exonic rs4666690 FSIP2 AU synonymous SNV NM_173651 exon17 c.A19131G p.L6377L 0.326877 0.4077 0.319520 0.3275 0.3909 Uncertain 2_186678227_G->T 2 186678227 186678227 G T snp 221.77 0/1 99 20 12 8 0.4 intronic rs146147932 FSIP2 AU NM_173651 exon18 c.74917-44G>T 0.00239617 0.0119 0.0015 0.0184 Uncertain 2_186678877_A->G 2 186678877 186678877 A G snp 1036.77 0/1 99 64 28 36 0.56 intronic rs17230036 FSIP2 AU NM_173651 exon18 c.75415+108A>G 0.0537141 0.0635 Uncertain 2_186696369_C->G 2 186696369 186696369 C G snp 74.77 0/1 67 5 2 3 0.6 intronic rs2302914 FSIP2 AU NM_173651 exon22 c.93185-170C>G 0.627995 0.5308 Uncertain 2_186697876_A->G 2 186697876 186697876 A G snp 5543.77 1/1 99 201 0 201 1.0 exonic rs1468999 FSIP2 AU nonsynonymous SNV NM_173651 exon23 c.A20914G p.T6972A 0.957069 0.9425 0.979439 0.9766 0.9387 1 T 0.000 P -0.973 T Pathogenic 2_187351344_-->TG 2 187351344 187351344 - TG indel 293.73 0/1 99 12 5 7 0.58 intronic rs3214710 ZC3H15 AU NM_018471 exon1 c.75+160insTG Uncertain 2_187364811_G->A 2 187364811 187364811 G A snp 80.77 0/1 52 5 2 3 0.6 intronic rs4144786 ZC3H15 AU NM_018471 exon3 c.13799-97G>A 0.604832 0.4653 Uncertain 2_187364878_A->G 2 187364878 187364878 A G snp 298.77 0/1 99 32 18 14 0.44 intronic rs4144785 ZC3H15 AU NM_018471 exon3 c.13799-30A>G 0.326478 0.4236 0.310562 0.3886 0.4687 Uncertain 2_187370142_T->G 2 187370142 187370142 T G snp 58.77 0/1 87 13 10 3 0.23 intronic rs2305408 ZC3H15 AU NM_018471 exon7 c.19068-35T>G 0.00119808 0.006 0.0009 0.0113 Uncertain 2_187373146_G->A 2 187373146 187373146 G A snp 303.78 1/1 24 8 0 8 1.0 intronic rs7558856 ZC3H15 AU NM_018471 exon10 c.22160-123G>A 0.97484 1 Uncertain 2_187455278_C->T 2 187455278 187455278 C T snp 757.77 0/1 99 57 26 31 0.54 intronic rs9333287 ITGAV AU NM_002210 exon1 c.185+28C>T 0.70607 0.8413 0.707032 0.7416 0.8560 Uncertain 2_187487160_G->A 2 187487160 187487160 G A snp 2036.77 0/1 99 199 98 101 0.51 splicing rs9333288 ITGAV AU NM_001144999 exon3 c.22096+3G>A 0.76258 0.8413 0.757497 0.7458 0.8522 Pathogenic 2_187487269_G->T 2 187487269 187487269 G T snp 574.77 0/1 99 39 19 20 0.51 intronic rs6741369 ITGAV AU NM_001144999 exon3 c.22096+112G>T 0.223043 0.1577 Uncertain 2_187490371_T->G 2 187490371 187490371 T G snp 330.77 0/1 99 23 9 14 0.61 intronic rs2197787 ITGAV AU NM_001144999 exon4 c.25253+57T>G 0.703275 0.8413 Uncertain 2_187490389_G->T 2 187490389 187490389 G T snp 155.77 0/1 99 12 5 7 0.58 intronic rs5836987 ITGAV AU NM_001144999 exon4 c.25253+75G>T 0.170527 0.2431 Uncertain 2_187498254_T->C 2 187498254 187498254 T C snp 86.28 1/1 9 3 0 3 1.0 intronic rs4667107 ITGAV AU NM_001144999 exon6 c.33040+153T>C 0.230631 0.5248 Uncertain 2_187501682_G->A 2 187501682 187501682 G A snp 3035.77 1/1 99 93 1 92 0.99 intronic rs56136540 ITGAV AU NM_001144999 exon8 c.36730-109G>A 0.688898 0.8194 Uncertain 2_187521260_C->A 2 187521260 187521260 C A snp 43.77 0/1 70 4 2 2 0.5 intronic rs3738919 ITGAV AU NM_001144999 exon17 c.56067+132C>A 0.221845 0.0784 Uncertain 2_187532010_G->T 2 187532010 187532010 G T snp 1095.77 0/1 99 97 49 48 0.49 intronic rs41265951 ITGAV AU NM_001144999 exon23 c.66896+53G>T 0.384385 0.7173 0.322383 Uncertain 2_187532417_G->A 2 187532417 187532417 G A snp 4398.77 1/1 99 177 0 177 1.0 exonic rs2230616 ITGAV AU nonsynonymous SNV NM_002210 exon24 c.G2347A p.V783I 0.992212 1 0.990850 0.9978 1 0.78 T 0.031 P -0.948 T 0.007 T 0.017 T Pathogenic 2_187533741_T->C 2 187533741 187533741 T C snp 41.77 0/1 68 4 2 2 0.5 intronic rs2290083 ITGAV AU NM_001144999 exon25 c.68586+94T>C 0.41234 0.7183 Uncertain 2_187540732_G->A 2 187540732 187540732 G A snp 129.77 0/1 99 21 15 6 0.29 intronic rs3213964 ITGAV AU NM_001144999 exon28 c.75593+78G>A 0.439297 0.249 Uncertain 2_187541810_T->C 2 187541810 187541810 T C snp 681.77 0/1 99 42 16 26 0.62 intronic rs2887831 ITGAV AU NM_001144999 exon30 c.76862-113T>C 0.158347 0.0774 Uncertain 2_187543227_G->C 2 187543227 187543227 G C snp 32.77 0/1 61 5 3 2 0.4 UTR3 rs11902171 ITGAV AU 0.176118 0.0774 ID=CR144075;DIS=Prostate cancer, reduced risk, association with;TAG=DP;PUB=23065910 DP Uncertain 2_187558960_G->A 2 187558960 187558960 G A snp 1965.77 0/1 99 172 84 88 0.51 exonic rs2276562 FAM171B AU synonymous SNV NM_177454 exon1 c.G60A p.L20L 0.288738 0.7153 0.165775 0.2777 0.7527 Uncertain 2_187559029_-->CAGCAG 2 187559029 187559029 - CAGCAG indel 4599.73 0/1 99 192 97 95 0.49 exonic rs549897920 FAM171B AU nonframeshift insertion NM_177454 exon1 c.129_130insCAGCAG p.Q43delinsQQQ 0.172724 0.0675 0.2365 0.0671 ID=COSM1326590;OCCURENCE=1(ovary) Uncertain 2_187559047_-->CAA 2 187559047 187559047 - CAA indel 4288.73 0/1 99 211 81 130 0.62 exonic rs144403657 FAM171B AU nonframeshift insertion NM_177454 exon1 c.147_148insCAA p.Q49delinsQQ 0.519569 0.7183 0.4639 0.7273 ID=COSM1403935;OCCURENCE=2(breast),5(large_intestine) Uncertain 2_187559222_T->G 2 187559222 187559222 T G snp 506.77 0/1 99 43 24 19 0.44 intronic rs6705757 FAM171B AU NM_177454 exon1 c.238+84T>G 0.442692 0.25 Uncertain 2_187611748_G->A 2 187611748 187611748 G A snp 2641.77 1/1 99 94 0 94 1.0 intronic rs2247924 FAM171B AU NM_177454 exon4 c.52918-70G>A 0.93151 0.9712 Uncertain 2_187698037_G->A 2 187698037 187698037 G A snp 619.77 1/1 45 25 0 25 1.0 intronic rs7609183 ZSWIM2 AU NM_182521 exon3 c.5249+78G>A 0.996006 0.9802 Uncertain 2_187698751_G->A 2 187698751 187698751 G A snp 1428.77 0/1 99 107 46 61 0.57 exonic rs7559533 ZSWIM2 AU synonymous SNV NM_182521 exon6 c.C750T p.T250T 0.196286 0.1131 0.236891 0.2603 0.1167 Uncertain 2_187713412_C->T 2 187713412 187713412 C T snp 43.77 0/1 70 4 2 2 0.5 intronic rs3114951 ZSWIM2 AU NM_182521 exon9 c.20982-280C>T 0.701278 0.8869 Uncertain 2_188216807_T->C 2 188216807 188216807 T C snp 1279.77 0/1 99 111 60 51 0.46 intronic rs858745 CALCRL AU NM_001271751 exon3 c.5930-33T>C 0.826677 0.753 0.881498 0.8469 0.7359 Uncertain 2_188243620_A->G 2 188243620 188243620 A G snp 275.77 0/1 99 19 6 13 0.68 intronic rs3771085 CALCRL AU NM_001271751 exon8 c.32756-46A>G 0.0748802 0.1746 0.025718 0.0574 0.2071 Uncertain 2_188243633_A->G 2 188243633 188243633 A G snp 567.77 1/1 42 23 0 23 1.0 intronic rs3771084 CALCRL AU NM_001271751 exon8 c.32756-33A>G 0.547125 0.7619 0.512490 0.5810 0.8112 Uncertain 2_188245317_A->- 2 188245317 188245317 A - indel 541.73 0/1 99 38 11 27 0.71 intronic rs574900767 CALCRL AU NM_001271751 exon9 c.34396+11delA 0.000798722 0.001 0.003115 0.0007 0.0003 Uncertain 2_188245640_G->A 2 188245640 188245640 G A snp 261.8 1/1 21 9 0 9 1.0 intronic rs1511877 CALCRL AU NM_001271751 exon10 c.34604+126G>A 0.967252 1 Uncertain 2_188250301_T->A 2 188250301 188250301 T A snp 1347.77 1/1 96 50 0 50 1.0 exonic rs698577 CALCRL AU nonsynonymous SNV NM_001271751 exon3 c.A22T p.N8Y 0.999401 1 0.998531 0.9996 1 1 T 0.0 P -0.945 T 0.0 T 0.0 T Pathogenic 2_188293545_G->A 2 188293545 188293545 G A snp 59.74 1/1 6 3 0 3 1.0 intronic rs113375998 CALCRL AU NM_001271751 exon14 c.101855-19220G>A 0.18131 0.4058 Uncertain 2_189448896_A->T 2 189448896 189448896 A T snp 1043.77 1/1 75 33 0 33 1.0 intronic rs2048138 GULP1 AU NM_001252669 exon7 c.106562-95A>T 0.995008 1 Uncertain 2_189849330_A->G 2 189849330 189849330 A G snp 141.03 1/1 12 5 0 5 1.0 intronic rs16830973 COL3A1 AD NM_000090 exon2 c.10270-155A>G 0.374201 0.3234 Uncertain 2_189857993_T->C 2 189857993 189857993 T C snp 1270.77 1/1 93 44 0 44 1.0 intronic rs12693525 COL3A1 AD NM_000090 exon16 c.18871-93T>C 0.404752 0.3264 Uncertain 2_189860996_G->A 2 189860996 189860996 G A snp 307.78 1/1 24 9 0 9 1.0 intronic rs62181728 COL3A1 AD NM_000090 exon23 c.21689+92G>A 0.33107 0.2708 Uncertain 2_189861031_T->C 2 189861031 189861031 T C snp 139.03 1/1 12 4 0 4 1.0 intronic rs62181730 COL3A1 AD NM_000090 exon24 c.21908-92T>C 0.45647 0.4653 Uncertain 2_189861396_T->A 2 189861396 189861396 T A snp 48.74 1/1 6 2 0 2 1.0 intronic rs41263753 COL3A1 AD NM_000090 exon24 c.22007+174T>A 0.245807 0.2321 Uncertain 2_189862203_C->T 2 189862203 189862203 C T snp 262.8 1/1 21 7 0 7 1.0 intronic rs3134654 COL3A1 AD NM_000090 exon26 c.22900+88C>T 0.989617 1 Uncertain 2_189863389_C->T 2 189863389 189863389 C T snp 1792.77 1/1 99 70 0 70 1.0 intronic rs13306272 COL3A1 AD NM_000090 exon29 c.24184-10C>T 0.246805 0.2321 0.243580 0.2641 0.2304 CLINSIG=non-pathogenic;CLNDBN=not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000124408.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Uncertain 2_189864080_G->A 2 189864080 189864080 G A snp 2848.77 1/1 99 107 1 106 0.99 exonic rs1800255 COL3A1 AD nonsynonymous SNV NM_000090 exon30 c.G2092A p.A698T 0.21845 0.2331 0.213901 0.3204 0.3038 0.3 T 0.292 P -1.057 T 0.0 T 0.0 T CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=COLLAGEN_TYPE_III_POLYMORPHISM|not_provided;CLNREVSTAT=no_assertion_criteria_provided|criteria_provided\x2c_single_submitter;CLNACC=RCV000018745.1|RCV000124409.1;CLNDSDB=.|MedGen;CLNDSDBID=.|CN221809 ID=CM086593;DIS=Intracranial aneurysm, association with;TAG=DP;PUB=18642782 DP Pathogenic 2_189866199_T->A 2 189866199 189866199 T A snp 2680.77 1/1 99 111 0 111 1.0 intronic rs2271682 COL3A1 AD NM_000090 exon33 c.26961+23T>A 0.776358 0.9315 0.701292 0.7587 0.9273 Uncertain 2_189867844_T->A 2 189867844 189867844 T A snp 939.77 1/1 69 26 0 26 1.0 intronic rs3736489 COL3A1 AD NM_000090 exon36 c.28573+56T>A 0.254193 0.2312 Uncertain 2_189867882_C->T 2 189867882 189867882 C T snp 347.78 1/1 27 9 0 9 1.0 intronic rs3736490 COL3A1 AD NM_000090 exon36 c.28573+94C>T 0.254792 0.2321 Uncertain 2_189871800_G->C 2 189871800 189871800 G C snp 53.74 1/1 6 3 0 3 1.0 intronic rs13306270 COL3A1 AD NM_000090 exon44 c.32501+84G>C 0.230431 0.2431 Uncertain 2_189875421_T->G 2 189875421 189875421 T G snp 5350.77 1/1 99 199 0 199 1.0 exonic rs1516446 COL3A1 AD nonsynonymous SNV NM_000090 exon50 c.T4059G p.H1353Q 0.996605 1 0.994925 0.9985 1 1 T 0.018 P -0.950 T 0.0 T 0.0 T CLINSIG=non-pathogenic;CLNDBN=not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000124416.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Pathogenic 2_189875695_T->G 2 189875695 189875695 T G snp 838.77 1/1 63 26 0 26 1.0 intronic rs3768660 COL3A1 AD NM_000090 exon50 c.36401+79T>G 0.332668 0.249 Uncertain 2_189899541_T->C 2 189899541 189899541 T C snp 432.77 1/1 33 13 0 13 1.0 intronic rs4666770 COL5A2 AD NM_000393 exon2 c.846-100T>C 0.844848 0.8204 Uncertain 2_189899572_T->C 2 189899572 189899572 T C snp 1211.77 1/1 90 41 0 41 1.0 intronic rs7420715 COL5A2 AD NM_000393 exon2 c.846-69T>C 0.844848 0.8204 Uncertain 2_189901295_G->A 2 189901295 189901295 G A snp 179.9 1/1 15 8 0 8 1.0 intronic rs12693526 COL5A2 AD NM_000393 exon3 c.2546-46G>A 0.643371 0.7014 0.712782 0.7245 0.7289 Uncertain 2_189907937_A->G 2 189907937 189907937 A G snp 1323.77 1/1 93 55 0 55 1.0 exonic rs6434312 COL5A2 AD synonymous SNV NM_000393 exon48 c.T3411C p.G1137G 0.940895 0.9127 0.971321 0.9540 0.9090 CLINSIG=non-pathogenic;CLNDBN=not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000124510.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Uncertain 2_189918337_T->C 2 189918337 189918337 T C snp 469.77 1/1 36 12 0 12 1.0 intronic rs6750027 COL5A2 AD NM_000393 exon17 c.19408+134T>C 0.807508 0.7996 Uncertain 2_189918787_C->T 2 189918787 189918787 C T snp 1195.77 1/1 87 43 0 43 1.0 intronic rs6738371 COL5A2 AD NM_000393 exon19 c.20089-97C>T 0.640375 0.6905 Uncertain 2_189923104_A->G 2 189923104 189923104 A G snp 2688.77 1/1 99 98 0 98 1.0 intronic rs7556733 COL5A2 AD NM_000393 exon22 c.24359-50A>G 0.943091 0.9653 0.962863 0.9595 0.9662 Uncertain 2_189923401_T->C 2 189923401 189923401 T C snp 347.78 1/1 27 9 0 9 1.0 intronic rs10178611 COL5A2 AD NM_000393 exon22 c.24458+148T>C 0.640575 0.6905 Uncertain 2_189923434_A->C 2 189923434 189923434 A C snp 698.77 1/1 54 19 0 19 1.0 intronic rs12989558 COL5A2 AD NM_000393 exon23 c.24779-140A>C 0.640575 0.6905 Uncertain 2_189923631_T->- 2 189923631 189923631 T - indel 4564.73 1/1 99 191 3 188 0.98 intronic rs398080909 COL5A2 AD NM_000393 exon23 c.24824+12delT 0.722644 0.7163 0.7242 0.6727 Uncertain 2_189925313_G->C 2 189925313 189925313 G C snp 424.77 1/1 33 15 0 15 1.0 intronic rs6414121 COL5A2 AD NM_000393 exon24 c.26660-142G>C 0.640575 0.6905 Uncertain 2_189925548_T->A 2 189925548 189925548 T A snp 2073.77 1/1 99 84 0 84 1.0 intronic rs6414122 COL5A2 AD NM_000393 exon24 c.26714+39T>A 0.942492 0.9653 0.962325 0.9593 0.9665 Uncertain 2_189927506_C->G 2 189927506 189927506 C G snp 182.9 1/1 15 6 0 6 1.0 intronic rs7424947 COL5A2 AD NM_000393 exon26 c.28795-84C>G 0.829473 0.7996 Uncertain 2_189932831_T->C 2 189932831 189932831 T C snp 2898.77 1/1 99 107 0 107 1.0 exonic rs2229495 COL5A2 AD synonymous SNV NM_000393 exon21 c.A1311G p.P437P 0.942891 0.9653 0.962633 0.9591 0.9658 CLINSIG=non-pathogenic;CLNDBN=not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000124497.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Uncertain 2_189936687_T->G 2 189936687 189936687 T G snp 1480.77 1/1 99 54 0 54 1.0 intronic rs6434317 COL5A2 AD NM_000393 exon37 c.37970-78T>G 0.642572 0.6895 Uncertain 2_189943122_A->- 2 189943122 189943122 A - indel 158.77 1/1 21 7 0 7 1.0 intronic rs5837122 COL5A2 AD NM_000393 exon39 c.44446-119delA 0.9375 0.9395 Uncertain 2_189953285_-->AATG 2 189953285 189953285 - AATG indel 435.75 1/1 24 8 0 8 1.0 intronic rs397758641 COL5A2 AD NM_000393 exon47 c.54625-135insAATG 0.798323 0.7986 Uncertain 2_189974958_G->T 2 189974958 189974958 G T snp 988.77 1/1 72 33 0 33 1.0 exonic rs4128539 COL5A2 AD synonymous SNV NM_000393 exon2 c.C315A p.T105T 0.888578 0.8958 0.939951 0.9322 0.9121 CLINSIG=non-pathogenic;CLNDBN=not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000124523.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Uncertain 2_189997838_G->A 2 189997838 189997838 G A snp 460.77 1/1 36 16 0 16 1.0 intronic rs62182417 COL5A2 AD NM_000393 exon53 c.76380+22663G>A 0.733427 0.8313 0.8446 0.7692 Uncertain 2_190313396_A->G 2 190313396 190313396 A G snp 890.77 1/1 66 26 0 26 1.0 intronic rs6738193 WDR75 AU NM_032168 exon2 c.7016+162A>G 0.740415 0.7599 Uncertain 2_190313841_T->C 2 190313841 190313841 T C snp 93.28 1/1 9 3 0 3 1.0 intronic rs1992295 WDR75 AU NM_001303096 exon3 c.24+281T>C 0.740415 0.7599 Uncertain 2_190319966_-->A 2 190319966 190319966 - A indel 150.73 0/1 65 12 4 8 0.67 intronic rs398105108 WDR75 AU NM_001303096 exon6 c.6509-79insA 0.514577 0.629 Uncertain 2_190319990_A->G 2 190319990 190319990 A G snp 1777.77 1/1 99 51 0 51 1.0 intronic rs1224958 WDR75 AU NM_001303096 exon6 c.6509-55A>G 0.998602 1 Uncertain 2_190322196_T->C 2 190322196 190322196 T C snp 99.28 1/1 9 3 0 3 1.0 intronic rs10497700 WDR75 AU NM_001303096 exon7 c.8571+89T>C 0.523962 0.6706 Uncertain 2_190323530_A->G 2 190323530 190323530 A G snp 5813.77 1/1 99 210 0 210 1.0 exonic rs1157910 WDR75 AU synonymous SNV NM_032168 exon7 c.A621G p.T207T 0.525559 0.6706 0.559127 0.6195 0.7022 Uncertain 2_190327076_C->T 2 190327076 190327076 C T snp 516.77 1/1 39 15 0 15 1.0 intronic rs2304703 WDR75 AU NM_001303096 exon10 c.13673-133C>T 0.523962 0.6706 Uncertain 2_190327126_C->G 2 190327126 190327126 C G snp 1894.77 1/1 99 68 0 68 1.0 intronic rs2304702 WDR75 AU NM_001303096 exon10 c.13673-83C>G 0.740615 0.7599 Uncertain 2_190327422_G->T 2 190327422 190327422 G T snp 91.77 0/1 99 15 10 5 0.33 intronic rs567386636 WDR75 AU NM_001303096 exon10 c.13832+54G>T 0.000199681 0.001 Uncertain 2_190332997_T->A 2 190332997 190332997 T A snp 93.28 1/1 9 3 0 3 1.0 intronic rs6434343 WDR75 AU NM_001303096 exon16 c.19664-203T>A 0.740216 0.7599 Uncertain 2_190430177_A->G 2 190430177 190430177 A G snp 1350.77 0/1 99 180 114 66 0.37 exonic rs2304704 SLC40A1 AU synonymous SNV NM_014585 exon6 c.T663C p.V221V 0.55012 0.8075 0.501538 0.6142 0.7885 Uncertain 2_190443304_C->T 2 190443304 190443304 C T snp 707.77 0/1 99 52 28 24 0.46 intronic rs1439815 SLC40A1 AU NM_014585 exon7 c.17935-1234C>T 0.580671 0.8175 Uncertain 2_190443312_AT->- 2 190443312 190443313 AT - indel 774.73 0/1 99 45 22 23 0.51 intronic rs67682938 SLC40A1 AU NM_014585 exon7 c.17935-1226_17935-1225delAT 0.121805 0.0833 Uncertain 2_190444630_C->G 2 190444630 190444630 C G snp 1662.77 0/1 99 172 96 76 0.44 intronic rs1439816 SLC40A1 AU NM_014585 exon7 c.18003+24C>G 0.659545 0.8194 0.690220 0.7872 0.8450 Uncertain 2_190445076_T->G 2 190445076 190445076 T G snp 119.77 0/1 99 7 3 4 0.57 intronic rs4287798 SLC40A1 AU NM_014585 exon8 c.18540-67T>G 0.560503 0.7768 0.541393 Uncertain 2_190448047_T->C 2 190448047 190448047 T C snp 3149.77 1/1 99 112 1 111 0.99 intergenic rs987028 SLC40A1 AU 0.998802 1 1 1 Uncertain 2_190448549_AT->- 2 190448549 190448550 AT - indel 530.73 1/1 48 19 0 19 1.0 intergenic rs142563615 SLC40A1 AU Uncertain 2_190530742_T->C 2 190530742 190530742 T C snp 118.77 0/1 66 7 2 5 0.71 intronic rs143275751 ASNSD1 AU 0.00798722 0.0397 0.0083 0.1465 Uncertain 2_190531426_G->A 2 190531426 190531426 G A snp 5328.77 1/1 99 183 2 181 0.99 exonic rs1437880 ASNSD1 AU nonsynonymous SNV NM_019048 exon4 c.G568A p.G190R 0.983027 0.998 0.983456 0.9951 0.9983 0.56 T 0.0 P -1.013 T 0.0 T 0.0 T Pathogenic 2_190541843_T->- 2 190541843 190541843 T - indel 82.92 0/1 5 34 2 32 0.94 intronic rs562083579 ANKAR AU NM_144708 exon2 c.601+26delT 0.640974 0.6835 0.3616 0.3162 Uncertain 2_190570002_A->- 2 190570002 190570002 A - indel 208.75 1/1 24 13 0 13 1.0 intronic rs11319823 ANKAR AU NM_144708 exon8 c.28734+52delA 0.983626 1 0.981960 0.9945 0.9991 Uncertain 2_190593311_C->G 2 190593311 190593311 C G snp 1122.77 1/1 84 29 0 29 1.0 intronic rs1225087 ANKAR AU NM_144708 exon15 c.52169-74C>G 0.983427 1 Uncertain 2_190595258_G->T 2 190595258 190595258 G T snp 3330.77 1/1 99 129 0 129 1.0 exonic rs1225090 ANKAR AU nonsynonymous SNV NM_144708 exon16 c.G3231T p.L1077F 0.983427 1 0.978471 0.9939 0.9998 0.71 T 0.0 P -1.024 T 0.0 T 0.001 T Pathogenic 2_190602513_T->C 2 190602513 190602513 T C snp 1013.77 1/1 72 38 1 37 0.97 exonic rs1225099 ANKAR AU synonymous SNV NM_144708 exon18 c.T3528C p.F1176F 0.983027 0.998 0.978462 0.9938 0.9983 Uncertain 2_190603201_-->A 2 190603201 190603201 - A indel 128.8 1/1 18 6 0 6 1.0 intronic rs397726686 ANKAR AU NM_144708 exon19 c.62074-89insA 0.577676 0.7123 Uncertain 2_190611084_T->C 2 190611084 190611084 T C snp 308.78 1/1 24 14 0 14 1.0 intronic rs13002216 ANKAR AU NM_144708 exon23 c.69889-21T>C 0.573083 0.7302 0.563769 0.6916 0.7277 Uncertain 2_190611414_T->C 2 190611414 190611414 T C snp 1898.77 1/1 99 72 0 72 1.0 UTR3 rs2254166 OSGEPL1 AU 0.983027 1 Uncertain 2_190611459_A->G 2 190611459 190611459 A G snp 1061.77 1/1 78 31 0 31 1.0 UTR3 rs2254167 OSGEPL1 AU 0.983227 1 Uncertain 2_190617643_A->G 2 190617643 190617643 A G snp 3534.77 1/1 99 129 0 129 1.0 exonic rs2243876 OSGEPL1 AU synonymous SNV NM_022353 exon6 c.T1026C p.N342N 0.970248 1 0.968401 0.9908 1 Uncertain 2_190636411_C->G 2 190636411 190636411 C G snp 1439.77 1/1 99 39 0 39 1.0 UTR3 rs6942 ORMDL1 AU 0.583866 0.7312 Uncertain 2_190640475_A->G 2 190640475 190640475 A G snp 2221.77 1/1 99 78 0 78 1.0 intronic rs3816196 ORMDL1 AU NM_001128150 exon2 c.3950+33A>G 0.583666 0.7312 0.572659 0.6936 0.7301 Uncertain 2_190643257_G->A 2 190643257 190643257 G A snp 1508.77 1/1 99 61 0 61 1.0 intronic rs7591929 ORMDL1 AU NM_001128150 exon2 c.3950+2815G>A 0.583666 0.7312 Uncertain 2_190647108_T->C 2 190647108 190647108 T C snp 1903.77 1/1 99 64 0 64 1.0 intronic rs10168387 ORMDL1 AU NM_001128150 exon3 c.10655-39T>C 0.985823 1 0.981311 0.9947 1 Uncertain 2_190926860_T->- 2 190926860 190926860 T - indel 514.73 0/1 99 33 17 16 0.48 intronic rs11333758 MSTN AU NM_005259 exon3 c.4966-89delT 0.3752 0.245 Uncertain 2_191064753_C->T 2 191064753 191064753 C T snp 1733.77 0/1 99 149 86 63 0.42 exonic rs6753459 C2orf88 AU nonsynonymous SNV NM_001042519 exon2 c.C167T p.T56I 0.353634 0.4355 0.304876 0.2706 0.4728 0.0 P -0.910 T 0.0 T 0.001 T Pathogenic 2_191109448_G->A 2 191109448 191109448 G A snp 571.77 0/1 99 31 11 20 0.65 intronic rs7582209 HIBCH AR NM_198047 exon3 c.39660-164G>A 0.363019 0.4296 Uncertain 2_191109533_C->T 2 191109533 191109533 C T snp 1400.77 0/1 99 96 39 57 0.59 intronic rs11883568 HIBCH AR NM_198047 exon3 c.39660-79C>T 0.345048 0.4296 Uncertain 2_191109870_C->A 2 191109870 191109870 C A snp 50.74 1/1 6 2 0 2 1.0 intronic rs2303827 HIBCH AR NM_198047 exon3 c.39742+176C>A 0.358027 0.4296 Uncertain 2_191114229_T->C 2 191114229 191114229 T C snp 161.77 0/1 66 10 4 6 0.6 intronic rs2244076 HIBCH AR NM_198047 exon5 c.44413-136T>C 0.339657 0.4296 Uncertain 2_191114235_G->A 2 191114235 191114235 G A snp 158.77 0/1 99 11 4 7 0.64 intronic rs2244075 HIBCH AR NM_198047 exon5 c.44413-130G>A 0.339856 0.4296 Uncertain 2_191117206_G->A 2 191117206 191117206 G A snp 34.77 0/1 63 7 4 3 0.43 intronic rs291402 HIBCH AR NM_198047 exon6 c.47081+173G>A 0.352636 0.4286 Uncertain 2_191125797_A->G 2 191125797 191125797 A G snp 302.77 0/1 99 14 4 10 0.71 intronic rs291416 HIBCH AR NM_198047 exon7 c.55929-84A>G 0.063099 0.1458 Uncertain 2_191125867_A->T 2 191125867 191125867 A T snp 911.77 0/1 99 61 21 40 0.66 intronic rs291417 HIBCH AR NM_198047 exon7 c.55929-14A>T 0.0577077 0.1458 0.020249 0.0353 0.1390 Uncertain 2_191159232_A->G 2 191159232 191159232 A G snp 71.77 0/1 99 12 8 4 0.33 intronic rs188339 HIBCH AR NM_198047 exon10 c.89319-39A>G 0.684305 0.5724 0.722282 0.7396 0.5442 Uncertain 2_191161622_T->C 2 191161622 191161622 T C snp 2508.77 0/1 99 225 114 111 0.49 exonic rs1058180 HIBCH AR nonsynonymous SNV NM_014362 exon3 c.A136G p.T46A 0.684305 0.5724 0.724204 0.7393 0.5446 0.88 T 1.0 P -0.966 T 0.0 T 0.0 T Pathogenic 2_191224981_G->T 2 191224981 191224981 G T snp 2133.77 1/1 99 80 0 80 1.0 exonic rs4656 INPP1 AU synonymous SNV NM_002194 exon2 c.G153T p.T51T 0.449681 0.4901 0.422574 0.3430 0.4938 Uncertain 2_191225197_A->G 2 191225197 191225197 A G snp 182.9 1/1 15 5 0 5 1.0 intronic rs2067405 INPP1 AU NM_002194 exon2 c.204+165A>G 0.449681 0.4901 Uncertain 2_191227197_G->A 2 191227197 191227197 G A snp 519.77 1/1 39 16 0 16 1.0 intronic rs2067420 INPP1 AU NM_002194 exon3 c.2524-155G>A 0.428514 0.4911 Uncertain 2_191227235_T->G 2 191227235 191227235 T G snp 1053.77 1/1 75 38 0 38 1.0 intronic rs2067421 INPP1 AU NM_002194 exon3 c.2524-117T>G 0.449681 0.4901 Uncertain 2_191227492_A->G 2 191227492 191227492 A G snp 277.8 1/1 21 11 0 11 1.0 intronic rs972689 INPP1 AU NM_002194 exon3 c.2585+79A>G 0.449681 0.4901 Uncertain 2_191231458_G->A 2 191231458 191231458 G A snp 1742.77 1/1 99 67 0 67 1.0 exonic rs11544940 INPP1 AU synonymous SNV NM_002194 exon4 c.G303A p.E101E 0.691693 0.7579 0.646163 0.6234 0.7663 Uncertain 2_191231503_G->A 2 191231503 191231503 G A snp 2077.77 1/1 99 77 0 77 1.0 exonic rs10931450 INPP1 AU synonymous SNV NM_002194 exon4 c.G348A p.V116V 0.276558 0.4623 0.232047 0.2484 0.4717 Uncertain 2_191235901_A->C 2 191235901 191235901 A C snp 3715.77 1/1 99 131 0 131 1.0 exonic rs1882891 INPP1 AU synonymous SNV NM_002194 exon6 c.A973C p.R325R 0.878195 0.9097 0.845840 0.8732 0.9115 Uncertain 2_191301368_A->G 2 191301368 191301368 A G snp 7773.77 1/1 99 250 0 250 1.0 exonic rs9646748 MFSD6 AU nonsynonymous SNV NM_017694 exon3 c.A613G p.R205G 0.492412 0.6181 0.437875 0.4853 0.5990 0.58 T 0.124 P -0.953 T 0.0 T 0.0 T Pathogenic 2_191334424_G->A 2 191334424 191334424 G A snp 56.74 1/1 6 2 0 2 1.0 intronic rs10193212 MFSD6 AU NM_017694 exon4 c.33728-59G>A 0.465256 0.627 Uncertain 2_191354491_T->C 2 191354491 191354491 T C snp 4002.77 1/1 99 145 1 144 0.99 splicing rs3811609 MFSD6 AU NM_017694 exon6 c.53738-2T>C 0.34345 0.4881 0.260034 0.3246 0.4678 Pathogenic 2_191354658_-->CT 2 191354658 191354658 - CT indel 4710.73 1/1 99 88 0 88 1.0 intronic rs59123011 MFSD6 AU NM_017694 exon6 c.53837+66insCT 0.876198 0.996 Uncertain 2_191373719_C->T 2 191373719 191373719 C T snp 36.77 0/1 33 3 1 2 0.67 UTR3 rs3811610 TMEM194B AU 0.0313498 0.124 Uncertain 2_191373775_C->T 2 191373775 191373775 C T snp 728.77 1/1 54 28 0 28 1.0 UTR3 rs6707244 TMEM194B AU 0.874601 0.995 Uncertain 2_191375375_G->A 2 191375375 191375375 G A snp 1380.77 1/1 99 37 0 37 1.0 intronic rs6712426 TMEM194B AU NM_001142645 exon2 c.1349+112G>A 0.685903 0.7232 Uncertain 2_191379268_G->A 2 191379268 191379268 G A snp 2589.77 1/1 99 98 0 98 1.0 exonic rs4586658 TMEM194B AU synonymous SNV NM_001142645 exon7 c.C864T p.A288A 0.532548 0.5833 0.502628 0.5526 0.5968 Uncertain 2_191390126_G->A 2 191390126 191390126 G A snp 1508.77 1/1 99 45 0 45 1.0 intronic rs10931458 TMEM194B AU NM_001142645 exon8 c.16190+22G>A 0.685903 0.7232 0.694043 0.7310 0.7362 Uncertain 2_191399201_G->A 2 191399201 191399201 G A snp 211.84 1/1 18 7 0 7 1.0 intronic rs12619125 TMEM194B AU NM_001142645 exon9 c.25370-83G>A 0.327077 0.4881 Uncertain 2_191399433_T->C 2 191399433 191399433 T C snp 1728.77 1/1 99 61 0 61 1.0 UTR5 rs12693579 TMEM194B AU 0.683506 0.7222 Uncertain 2_191535311_T->C 2 191535311 191535311 T C snp 186.77 0/1 99 30 21 9 0.3 intronic rs2109957 NAB1 AU NM_005966 exon5 c.11283+126T>C 0.194089 0.2173 Uncertain 2_191537794_T->- 2 191537794 191537794 T - indel 195.73 0/1 99 37 17 20 0.54 intronic rs5837195 NAB1 AU NM_005966 exon6 c.13924-32delT 0.389577 0.3909 0.2637 0.2978 Uncertain 2_191545606_C->T 2 191545606 191545606 C T snp 218.77 0/1 99 13 6 7 0.54 intronic rs13382951 NAB1 AU NM_005966 exon7 c.24561-2857C>T 0.264776 0.3621 Uncertain 2_191545821_A->G 2 191545821 191545821 A G snp 1000.77 0/1 99 75 32 43 0.57 intronic rs12618075 NAB1 AU NM_005966 exon7 c.24561-2642A>G 0.211462 0.2738 Uncertain 2_191746076_A->C 2 191746076 191746076 A C snp 870.77 1/1 63 30 0 30 1.0 exonic rs143584207 GLS AU nonsynonymous SNV NM_014905 exon1 c.A266C p.H89P 0.0115815 0.0556 0.0024 0.0349 0.36 T 1.000 N -1.069 T 0.0 T 0.0 T Pathogenic 2_191818065_T->C 2 191818065 191818065 T C snp 261.8 1/1 21 7 0 7 1.0 intronic rs6434430 GLS AU NM_014905 exon15 c.72480-225T>C 0.871605 0.8552 Uncertain 2_191839976_C->T 2 191839976 191839976 C T snp 3151.77 1/1 99 99 0 99 1.0 intronic rs1914408 STAT1 AR,AD NM_007315 exon2 c.4230+318C>T 0.195288 0.3006 Uncertain 2_191841759_G->A 2 191841759 191841759 G A snp 4407.77 1/1 99 152 0 152 1.0 intronic rs2066804 STAT1 AR,AD NM_139266 exon2 c.1218+8G>A 0.226637 0.4365 0.217361 0.2260 0.4529 Uncertain 2_191841879_A->G 2 191841879 191841879 A G snp 302.78 1/1 24 8 0 8 1.0 intronic rs7597768 STAT1 AR,AD NM_139266 exon2 c.1218+128A>G 0.229034 0.4454 Uncertain 2_191843830_A->G 2 191843830 191843830 A G snp 1743.77 1/1 99 55 0 55 1.0 intronic rs2280235 STAT1 AR,AD NM_139266 exon3 c.3194+103A>G 0.257788 0.503 Uncertain 2_191848312_T->C 2 191848312 191848312 T C snp 1346.77 1/1 99 42 0 42 1.0 intronic rs12477076 STAT1 AR,AD NM_139266 exon7 c.7834-55T>C 0.9998 0.999 Uncertain 2_191873553_A->T 2 191873553 191873553 A T snp 260.8 1/1 21 7 0 7 1.0 intronic rs10199181 STAT1 AR,AD NM_139266 exon20 c.33155-135A>T 0.498003 0.6806 Uncertain 2_191896045_T->G 2 191896045 191896045 T G snp 133.03 1/1 12 5 0 5 1.0 intronic rs1517351 STAT4 AU NM_001243835 exon3 c.1610-130T>G 0.301518 0.3859 Uncertain 2_191922308_T->- 2 191922308 191922308 T - indel 71.7 0/1 6 17 1 16 0.94 intronic rs56816363 STAT4 AU NM_001243835 exon12 c.28178-435delT Uncertain 2_191996518_T->C 2 191996518 191996518 T C snp 983.77 0/1 99 110 63 47 0.43 intronic rs1551443 STAT4 AU NM_001243835 exon22 c.116773-14820T>C 0.677915 0.7093 0.6837 0.6857 Uncertain 2_191996670_G->A 2 191996670 191996670 G A snp 1004.77 0/1 99 82 40 42 0.51 intronic rs59976218 STAT4 AU NM_001243835 exon22 c.116773-14668G>A 0.0157748 0.0337 0.0074 0.0434 Uncertain 2_192160839_A->T 2 192160839 192160839 A T snp 820.77 0/1 99 63 31 32 0.51 exonic rs4853574 MYO1B AU synonymous SNV NM_001130158 exon3 c.A138T p.T46T 0.509185 0.6567 0.508842 0.5571 0.6623 Uncertain 2_192160875_C->T 2 192160875 192160875 C T snp 1087.77 0/1 99 93 45 48 0.52 exonic rs4853575 MYO1B AU synonymous SNV NM_001130158 exon3 c.C174T p.Y58Y 0.509385 0.6567 0.508765 0.5578 0.6642 Uncertain 2_192161058_-->T 2 192161058 192161058 - T indel 640.73 1/1 66 27 0 27 1.0 intronic rs11397643 MYO1B AU NM_012223 exon3 c.19331+106insT 0.978634 0.9831 Uncertain 2_192214833_A->T 2 192214833 192214833 A T snp 607.77 0/1 99 52 27 25 0.48 intronic rs67146186 MYO1B AU NM_012223 exon7 c.73266-54A>T 0.347843 0.3125 0.339833 Uncertain 2_192214966_T->C 2 192214966 192214966 T C snp 559.77 0/1 99 54 27 27 0.5 intronic rs59642822 MYO1B AU NM_012223 exon7 c.73330+15T>C 0.354633 0.3115 0.345432 0.3770 0.3204 Uncertain 2_192225294_A->G 2 192225294 192225294 A G snp 460.77 0/1 99 66 45 21 0.32 intronic rs2138913 MYO1B AU NM_012223 exon8 c.83735-62A>G 0.38139 0.3155 Uncertain 2_192226908_G->C 2 192226908 192226908 G C snp 31.77 0/1 60 8 6 2 0.25 intronic rs2271769 MYO1B AU NM_012223 exon9 c.85372-85G>C 0.375599 0.3155 Uncertain 2_192227230_T->C 2 192227230 192227230 T C snp 506.77 0/1 99 37 19 18 0.49 intronic rs12988758 MYO1B AU NM_012223 exon9 c.85476+133T>C 0.25639 0.3125 Uncertain 2_192247808_A->G 2 192247808 192247808 A G snp 264.8 1/1 21 7 0 7 1.0 intronic rs34460997 MYO1B AU NM_012223 exon15 c.106384-197A>G 0.750799 0.9405 Uncertain 2_192247836_C->T 2 192247836 192247836 C T snp 477.77 1/1 36 15 0 15 1.0 intronic rs4641883 MYO1B AU NM_012223 exon15 c.106384-169C>T 0.783546 0.9405 Uncertain 2_192250543_A->G 2 192250543 192250543 A G snp 2517.77 1/1 99 93 0 93 1.0 intronic rs13000398 MYO1B AU NM_012223 exon16 c.108988-66A>G 0.784744 0.9405 Uncertain 2_192250568_T->C 2 192250568 192250568 T C snp 3991.77 1/1 99 140 0 140 1.0 intronic rs13026888 MYO1B AU NM_012223 exon16 c.108988-41T>C 0.784744 0.9405 0.805321 0.9127 0.9433 Uncertain 2_192250726_G->A 2 192250726 192250726 G A snp 4972.77 1/1 99 179 0 179 1.0 exonic rs13018796 MYO1B AU synonymous SNV NM_001130158 exon16 c.G1470A p.E490E 0.779952 0.9405 0.798324 0.9113 0.9434 Uncertain 2_192252411_A->G 2 192252411 192252411 A G snp 90.28 1/1 9 3 0 3 1.0 intronic rs7558242 MYO1B AU NM_012223 exon17 c.110555+235A>G 0.976837 1 Uncertain 2_192279327_T->C 2 192279327 192279327 T C snp 5356.77 1/1 99 204 0 204 1.0 exonic rs2271767 MYO1B AU synonymous SNV NM_012223 exon27 c.T2917C p.L973L 0.749601 0.9395 0.766262 0.9019 0.9430 1.000 P -1.020 T Likely benign 2_192549135_T->C 2 192549135 192549135 T C snp 1095.77 1/1 81 34 0 34 1.0 intronic rs74443791 NABP1 AU NM_001254736 exon5 c.2341+113T>C 0.0091853 0.0427 Uncertain 2_192701393_A->G 2 192701393 192701393 A G snp 941.77 0/1 99 90 49 41 0.46 exonic rs10167187 SDPR AU synonymous SNV NM_004657 exon2 c.T534C p.G178G 0.633786 0.7609 0.555598 0.6054 0.7430 Uncertain 2_192711162_A->C 2 192711162 192711162 A C snp 4656.77 1/1 99 169 0 169 1.0 intronic rs4471838 SDPR AU NM_004657 exon2 c.10520-6A>C 0.905152 1 0.898585 0.9725 0.9995 Uncertain 2_192746182_G->A 2 192746182 192746182 G A snp 421.77 1/1 33 11 0 11 1.0 intergenic rs12693617 SDPR AU 0.977037 1 Uncertain 2_192820898_T->G 2 192820898 192820898 T G snp 798.77 1/1 60 24 1 23 0.96 intronic rs7606017 TMEFF2 AU NM_001305134 exon3 c.5803-82T>G 0.827476 0.9385 Uncertain 2_192922256_T->G 2 192922256 192922256 T G snp 141.03 1/1 12 4 0 4 1.0 intronic rs3738883 TMEFF2 AU NM_001305134 exon6 c.107227-148T>G 0.43151 0.5446 Uncertain 2_193048895_C->G 2 193048895 193048895 C G snp 50.74 1/1 6 2 0 2 1.0 intronic rs3738882 TMEFF2 AU NM_001305134 exon8 c.233902-184C>G 0.625599 0.6339 Uncertain 2_193056737_C->A 2 193056737 193056737 C A snp 1091.77 0/1 99 92 46 46 0.5 intronic rs3768702 TMEFF2 AU NM_001305134 exon9 c.241538+22C>A 0.286741 0.3681 0.237044 0.2902 0.3866 Uncertain 2_196582816_T->C 2 196582816 196582816 T C snp 560.77 1/1 42 18 0 18 1.0 intronic rs842736 SLC39A10 AU NM_001127257 exon8 c.38209-159T>C 0.996805 1 Uncertain 2_196636662_C->G 2 196636662 196636662 C G snp 2724.77 1/1 99 95 0 95 1.0 intronic rs1145939 DNAH7 AU NM_018897 exon5 c.33970+48C>G 0.686102 0.6528 0.747168 0.7080 0.6442 Uncertain 2_196673533_A->G 2 196673533 196673533 A G snp 4992.77 1/1 99 177 0 177 1.0 exonic rs13411834 DNAH7 AU nonsynonymous SNV NM_018897 exon53 c.T9956C p.L3319P 0.961262 1 0.963252 0.9894 1 1 T 1.0 P -0.827 T 0.0 T 0.0 T Pathogenic 2_196681699_C->T 2 196681699 196681699 C T snp 716.77 1/1 54 21 0 21 1.0 intronic rs77817274 DNAH7 AU NM_018897 exon15 c.79043+12C>T 0.0916534 0.3204 0.009014 0.0620 0.3423 Uncertain 2_196682630_C->A 2 196682630 196682630 C A snp 430.77 1/1 33 12 0 12 1.0 intronic rs975417 DNAH7 AU NM_018897 exon16 c.79909+77C>A 0.669129 0.6131 Uncertain 2_196688881_G->A 2 196688881 196688881 G A snp 535.77 1/1 42 15 0 15 1.0 intronic rs4142825 DNAH7 AU NM_018897 exon17 c.86334-97G>A 0.0704872 0.2708 Uncertain 2_196740668_AGAG->- 2 196740668 196740671 AGAG - indel 249.73 0/1 99 13 8 5 0.38 intronic DNAH7 AU NM_018897 exon28 c.137923+101_137923+104delAGAG Uncertain 2_196740672_T->C 2 196740672 196740672 T C snp 96.77 0/1 99 13 8 5 0.38 intronic DNAH7 AU NM_018897 exon28 c.137923+105T>C Uncertain 2_196740673_A->T 2 196740673 196740673 A T snp 125.77 0/1 99 12 7 5 0.42 intronic DNAH7 AU NM_018897 exon28 c.137923+106A>T Uncertain 2_196740683_A->C 2 196740683 196740683 A C snp 150.77 0/1 99 11 6 5 0.45 intronic rs553143841 DNAH7 AU NM_018897 exon28 c.137923+116A>C 0.000399361 0.002 Uncertain 2_196741428_A->G 2 196741428 196741428 A G snp 2134.77 1/1 99 67 0 67 1.0 splicing rs80309791 DNAH7 AU NM_018897 exon29 c.138779+5A>G 0.0712859 0.2788 0.003079 0.0428 0.3249 Pathogenic 2_196746381_-->A 2 196746381 196746381 - A indel 280.77 1/1 21 7 0 7 1.0 intronic rs34150699 DNAH7 AU NM_018897 exon30 c.143874-137insA Uncertain 2_196756536_A->- 2 196756536 196756536 A - indel 1269.73 1/1 99 70 2 68 0.97 intronic rs11292337 DNAH7 AU NM_018897 exon35 c.153884+8delA 0.829673 0.9901 0.8368 0.9723 Uncertain 2_196762275_C->T 2 196762275 196762275 C T snp 139.03 1/1 12 4 0 4 1.0 intronic rs16841716 DNAH7 AU NM_018897 exon37 c.159746-115C>T 0.0702875 0.2738 Uncertain 2_196774959_GATTTTTTTTCCATTCACATGC->- 2 196774959 196774980 GATTTTTTTTCCATTCACATGC - indel 9445.73 1/1 99 52 0 52 1.0 intronic rs147338806 DNAH7 AU NM_018897 exon41 c.172275+40_172275+61delGATTTTTTTTCCATTCACATGC 0.0702875 0.2728 0.002901 0.0378 0.2725 Uncertain 2_196799394_A->G 2 196799394 196799394 A G snp 7161.77 1/1 99 249 0 249 1.0 exonic rs76561342 DNAH7 AU nonsynonymous SNV NM_018897 exon21 c.T3392C p.I1131T 0.0704872 0.2738 0.002925 0.0352 0.2685 0.02 T 1.0 P -1.193 T 1.0 D 0.996 D Pathogenic 2_196825678_A->G 2 196825678 196825678 A G snp 2802.77 1/1 99 89 1 88 0.99 intronic rs77729592 DNAH7 AU NM_018897 exon48 c.223025+9A>G 0.0704872 0.2758 0.002892 0.0387 0.2782 Uncertain 2_196911965_A->T 2 196911965 196911965 A T snp 398.77 1/1 30 12 0 12 1.0 intronic rs4850652 DNAH7 AU NM_018897 exon61 c.309431-110A>T 0.0720847 0.2827 Uncertain 2_196912067_A->G 2 196912067 196912067 A G snp 1065.77 1/1 75 42 0 42 1.0 intronic rs4850381 DNAH7 AU NM_018897 exon61 c.309431-8A>G 0.771765 0.9038 0.708474 0.7330 0.9060 Uncertain 2_196915991_A->G 2 196915991 196915991 A G snp 971.77 1/1 69 40 1 39 0.97 intronic rs10174065 DNAH7 AU NM_018897 exon63 c.313329+18A>G 0.770168 0.9038 0.689415 0.7311 0.9061 Uncertain 2_196933159_G->C 2 196933159 196933159 G C snp 214.84 1/1 18 6 0 6 1.0 intronic rs117142159 DNAH7 AU NM_018897 exon65 c.330776-261G>C 0.0720847 0.2827 Uncertain 2_197004439_A->G 2 197004439 197004439 A G snp 933.77 1/1 66 36 0 36 1.0 exonic rs1054537 STK17B AU synonymous SNV NM_004226 exon7 c.T741C p.I247I 0.703075 0.9028 0.609248 0.6710 0.9053 Uncertain 2_197008529_C->T 2 197008529 197008529 C T snp 56.74 1/1 6 2 0 2 1.0 intronic rs1568368 STK17B AU NM_004226 exon4 c.6240+119C>T 0.702875 0.9028 Uncertain 2_197021372_T->A 2 197021372 197021372 T A snp 2500.77 1/1 99 88 0 88 1.0 exonic rs12478353 STK17B AU synonymous SNV NM_004226 exon3 c.A126T p.G42G 0.65016 0.9028 0.548516 0.6387 0.9049 Uncertain 2_197065889_A->G 2 197065889 197065889 A G snp 622.77 1/1 48 16 0 16 1.0 UTR3 rs3795921 HECW2 AU 0.790335 0.9871 Uncertain 2_197065964_C->A 2 197065964 197065964 C A snp 2895.77 1/1 99 103 0 103 1.0 UTR3 rs3820908 HECW2 AU 0.715655 0.8294 0.659566 0.7188 0.8365 Uncertain 2_197066175_T->G 2 197066175 197066175 T G snp 1220.77 1/1 90 35 0 35 1.0 intronic rs4566380 HECW2 AU NM_001304840 exon1 c.112+63T>G 0.724641 0.8343 Uncertain 2_197084982_T->C 2 197084982 197084982 T C snp 1937.77 1/1 99 64 0 64 1.0 intronic rs2305568 HECW2 AU NM_001304840 exon4 c.18877+105T>C 0.495208 0.628 Uncertain 2_197085695_C->T 2 197085695 197085695 C T snp 1081.77 0/1 99 79 34 45 0.57 intronic rs78356679 HECW2 AU NM_001304840 exon5 c.19665+30C>T 0.090655 0.1667 0.065431 0.0319 0.1580 Uncertain 2_197086912_G->A 2 197086912 197086912 G A snp 3064.77 0/1 99 216 89 127 0.59 intronic rs16847479 HECW2 AU NM_001304840 exon6 c.20934-22G>A 0.115615 0.1766 0.068814 0.0465 0.1753 Uncertain 2_197087162_A->C 2 197087162 197087162 A C snp 46.77 0/1 33 3 1 2 0.67 intronic rs3816517 HECW2 AU NM_001304840 exon6 c.21064+98A>C Uncertain 2_197090420_TGAC->- 2 197090420 197090423 TGAC - indel 868.73 0/1 99 25 12 13 0.52 intronic rs58234399 HECW2 AU NM_001304840 exon7 c.24495-75_24495-72delTGAC 0.0591054 0.1806 Uncertain 2_197092767_A->G 2 197092767 197092767 A G snp 466.77 0/1 99 35 14 21 0.6 intronic rs3748873 HECW2 AU NM_001304840 exon8 c.26825-58A>G 0.261382 0.4395 Uncertain 2_197093005_A->C 2 197093005 197093005 A C snp 179.77 0/1 99 20 11 9 0.45 intronic rs3748874 HECW2 AU NM_001304840 exon8 c.26978+27A>C 0.172125 0.1974 0.130177 0.1195 0.2025 Uncertain 2_197093104_G->A 2 197093104 197093104 G A snp 56.74 1/1 6 2 0 2 1.0 intronic rs10931732 HECW2 AU NM_001304840 exon8 c.26978+126G>A 0.250998 0.4097 Uncertain 2_197106759_T->C 2 197106759 197106759 T C snp 1552.77 0/1 99 142 70 72 0.51 intronic rs2045277 HECW2 AU NM_001304840 exon10 c.40807-48T>C 0.798323 0.8056 0.828925 0.8776 0.8040 Uncertain 2_197118604_A->T 2 197118604 197118604 A T snp 423.77 0/1 99 22 8 14 0.64 intronic rs78278395 HECW2 AU NM_001304840 exon11 c.52643-39A>T 0.0535144 0.1687 0.014301 0.0371 0.1727 Uncertain 2_197118729_C->T 2 197118729 197118729 C T snp 3332.77 1/1 99 127 0 127 1.0 exonic rs4850690 HECW2 AU synonymous SNV NM_001304840 exon17 c.G2376A p.S792S 0.972244 1 0.967630 0.9913 0.9999 Uncertain 2_197135889_T->A 2 197135889 197135889 T A snp 480.77 0/1 99 34 12 22 0.65 intronic rs12472825 HECW2 AU NM_001304840 exon13 c.69916-27T>A 0.0503195 0.1587 0.012302 0.0327 0.1645 Uncertain 2_197138653_G->A 2 197138653 197138653 G A snp 478.77 0/1 99 38 19 19 0.5 intronic rs72923327 HECW2 AU NM_001304840 exon14 c.72744-91G>A 0.136382 0.2312 Uncertain 2_197138654_C->A 2 197138654 197138654 C A snp 457.77 0/1 99 39 19 20 0.51 intronic rs72923330 HECW2 AU NM_001304840 exon14 c.72744-90C>A 0.136382 0.2312 Uncertain 2_197171104_G->A 2 197171104 197171104 G A snp 341.78 1/1 27 11 0 11 1.0 intronic rs6729640 HECW2 AU NM_001304840 exon17 c.105211-107G>A 0.601837 0.7817 Uncertain 2_197171175_C->T 2 197171175 197171175 C T snp 1708.77 1/1 99 61 0 61 1.0 intronic rs4241189 HECW2 AU NM_001304840 exon17 c.105211-36C>T 0.7498 0.9603 0.682531 0.7586 0.9780 Uncertain 2_197171183_C->T 2 197171183 197171183 C T snp 1847.77 1/1 99 67 0 67 1.0 intronic rs12468199 HECW2 AU NM_001304840 exon17 c.105211-28C>T 0.539337 0.7817 0.492542 0.6207 0.8351 Uncertain 2_197172816_G->A 2 197172816 197172816 G A snp 825.77 1/1 60 27 0 27 1.0 intronic rs2305567 HECW2 AU NM_001304840 exon19 c.106809+7G>A 0.749601 0.9603 0.681762 0.7670 0.9785 Uncertain 2_197184321_C->T 2 197184321 197184321 C T snp 4373.77 1/1 99 158 0 158 1.0 exonic rs1531111 HECW2 AU synonymous SNV NM_001304840 exon7 c.G225A p.P75P 0.727436 0.9653 0.693603 0.7970 0.9715 Uncertain 2_197298222_T->C 2 197298222 197298222 T C snp 220.84 1/1 18 6 0 6 1.0 intronic rs2204641 HECW2 AU NM_020760 exon28 c.232182+40T>C 0.948283 0.994 Uncertain 2_197298232_C->T 2 197298232 197298232 C T snp 93.28 1/1 9 3 0 3 1.0 intronic rs2204640 HECW2 AU NM_020760 exon28 c.232182+50C>T 0.969449 1 Uncertain 2_197504545_C->G 2 197504545 197504545 C G snp 3342.77 1/1 99 133 0 133 1.0 intronic rs1879128 CCDC150 AU NM_001080539 exon1 c.12+43C>G 0.688898 0.9256 0.641753 0.7189 0.9270 Uncertain 2_197521252_C->T 2 197521252 197521252 C T snp 96.28 1/1 9 3 0 3 1.0 intronic rs1519678 CCDC150 AU NM_001080539 exon3 c.16866-104C>T 0.823682 0.9494 Uncertain 2_197531737_C->G 2 197531737 197531737 C G snp 50.74 1/1 6 2 0 2 1.0 intronic rs2376098 CCDC150 AU NM_001080539 exon7 c.27082+165C>G 0.799521 0.8462 Uncertain 2_197534692_C->T 2 197534692 197534692 C T snp 3082.77 1/1 99 114 0 114 1.0 intronic rs7590083 CCDC150 AU NM_001080539 exon8 c.30110+92C>T 0.892971 0.8532 Uncertain 2_197559859_G->T 2 197559859 197559859 G T snp 776.77 0/1 99 89 51 38 0.43 exonic CCDC150 AU nonsynonymous SNV NM_001080539 exon14 c.G1599T p.Q533H 0.2 T 1.000 N -1.084 T 0.003 T 0.005 T Pathogenic 2_197584504_C->T 2 197584504 197584504 C T snp 574.77 1/1 45 19 0 19 1.0 intronic rs2680970 CCDC150 AU NM_001080539 exon19 c.79900+114C>T 0.826278 0.9692 Uncertain 2_197593787_C->T 2 197593787 197593787 C T snp 627.77 1/1 48 16 0 16 1.0 intronic rs2460436 CCDC150 AU NM_001080539 exon23 c.89426-129C>T 0.834665 0.9514 Uncertain 2_197594203_G->C 2 197594203 197594203 G C snp 3286.77 1/1 99 110 0 110 1.0 intronic rs2577580 CCDC150 AU NM_001080539 exon23 c.89621+92G>C 0.828275 0.9702 0.7936 0.9708 Uncertain 2_197595762_G->A 2 197595762 197595762 G A snp 4076.77 1/1 99 144 0 144 1.0 intronic rs2680967 CCDC150 AU NM_001080539 exon26 c.91179+93G>A 0.662141 0.9246 Uncertain 2_197629451_G->A 2 197629451 197629451 G A snp 922.77 0/1 99 77 40 37 0.48 intronic GTF3C3 AU NM_012086 exon1 c.123+42G>A Uncertain 2_197712779_G->C 2 197712779 197712779 G C snp 1149.77 0/1 99 112 56 56 0.5 intronic PGAP1 AR NM_024989 exon7 c.6804+18G>C Uncertain 2_197758148_C->T 2 197758148 197758148 C T snp 139.03 1/1 12 4 0 4 1.0 intronic rs332299 PGAP1 AR NM_024989 exon20 c.52012+179C>T 1 1 Uncertain 2_197777589_C->T 2 197777589 197777589 C T snp 3104.77 1/1 99 105 0 105 1.0 intronic rs12693800 PGAP1 AR NM_024989 exon24 c.71648-16C>T 0.910543 0.9752 0.883208 0.8926 0.9743 Uncertain 2_197792152_A->C 2 197792152 197792152 A C snp 133.03 1/1 12 5 0 5 1.0 upstream rs74338385 PGAP1 AR Uncertain 2_197854233_-->AC 2 197854233 197854233 - AC indel 818.73 1/1 56 22 1 21 0.95 UTR3 rs144034091 ANKRD44 AU 0.71266 0.7956 Uncertain 2_197858129_T->C 2 197858129 197858129 T C snp 56.74 1/1 6 2 0 2 1.0 intronic rs1036542 ANKRD44 AU NM_001195144 exon2 c.3992-177T>C 0.689696 0.9583 Uncertain 2_197863214_C->T 2 197863214 197863214 C T snp 876.77 1/1 63 30 0 30 1.0 intronic rs1966703 ANKRD44 AU NM_001195144 exon4 c.8829+71C>T 0.692492 0.9663 Uncertain 2_197863851_C->T 2 197863851 197863851 C T snp 762.77 1/1 57 24 0 24 1.0 intronic rs4850742 ANKRD44 AU NM_001195144 exon5 c.9462+75C>T 0.924321 1 Uncertain 2_197864996_A->C 2 197864996 197864996 A C snp 511.77 1/1 39 16 0 16 1.0 intronic rs6434897 ANKRD44 AU NM_001195144 exon6 c.10828-146A>C 0.910144 1 Uncertain 2_197866470_T->A 2 197866470 197866470 T A snp 1847.77 1/1 99 71 0 71 1.0 intronic rs12478175 ANKRD44 AU NM_001195144 exon7 c.12162-6T>A 0.745607 0.9603 0.715285 0.8294 0.9604 Uncertain 2_197872727_-->TCTC 2 197872727 197872727 - TCTC indel 1937.73 1/1 87 34 0 34 1.0 intronic rs35995095 ANKRD44 AU NM_001195144 exon9 c.18333+80insTCTC 0.92472 1 Uncertain 2_197873563_T->C 2 197873563 197873563 T C snp 763.77 1/1 57 21 0 21 1.0 intronic rs7565685 ANKRD44 AU NM_001195144 exon10 c.19353-104T>C 0.924521 1 Uncertain 2_197951615_C->T 2 197951615 197951615 C T snp 130.03 1/1 12 4 0 4 1.0 intronic rs893402 ANKRD44 AU NM_001195144 exon16 c.97158+143C>T 0.908147 0.998 Uncertain 2_197953373_AAGTC->- 2 197953373 197953377 AAGTC - indel 5164.73 1/1 99 69 0 69 1.0 intronic rs146161383 ANKRD44 AU NM_001195144 exon17 c.99120-61_99120-57delAAGTC 0.824281 0.998 0.808523 Uncertain 2_197954780_A->G 2 197954780 197954780 A G snp 3974.77 1/1 99 131 0 131 1.0 intronic rs4300850 ANKRD44 AU NM_001195144 exon18 c.100442+24A>G 0.908347 0.998 0.907889 0.9462 0.9997 Uncertain 2_197986048_T->C 2 197986048 197986048 T C snp 4460.77 1/1 99 150 0 150 1.0 intronic rs2697270 ANKRD44 AU NM_153697 exon3 c.21520-7T>C 0.916134 0.9871 0.913271 0.9563 0.9851 Uncertain 2_197989945_T->C 2 197989945 197989945 T C snp 1102.77 1/1 81 31 0 31 1.0 intronic rs2579395 ANKRD44 AU NM_153697 exon5 c.25569-159T>C 0.916534 0.9881 Uncertain 2_197990509_G->A 2 197990509 197990509 G A snp 294.78 1/1 24 8 0 8 1.0 intronic rs2579394 ANKRD44 AU NM_153697 exon6 c.26025-51G>A 0.680911 0.9563 0.652424 Uncertain 2_197990909_G->A 2 197990909 197990909 G A snp 717.77 1/1 54 20 0 20 1.0 intronic rs2918628 ANKRD44 AU NM_153697 exon6 c.26226+148G>A 0.935304 1 Uncertain 2_198001443_C->T 2 198001443 198001443 C T snp 1861.77 1/1 99 56 0 56 1.0 intronic rs2579387 ANKRD44 AU NM_153697 exon7 c.36851+57C>T 0.784545 0.9861 0.791502 Uncertain 2_198011904_G->A 2 198011904 198011904 G A snp 4598.77 1/1 99 158 0 158 1.0 intronic rs2249470 ANKRD44 AU NM_153697 exon8 c.47294+75G>A 0.867812 0.9861 Uncertain 2_198257000_G->C 2 198257000 198257000 G C snp 451.77 0/1 99 42 19 23 0.55 UTR3 rs534224854 SF3B1 AU 0.000199681 0.001 2.751e-05 0.0004 Uncertain 2_198257795_T->C 2 198257795 198257795 T C snp 5572.77 1/1 99 211 0 211 1.0 exonic rs4685 SF3B1 AU synonymous SNV NM_012433 exon24 c.A3657G p.V1219V 0.71845 0.5218 0.735968 0.6717 0.5433 1.0 P -1.051 T ID=COSM3757859;OCCURENCE=1(large_intestine) Likely benign 2_198263146_T->C 2 198263146 198263146 T C snp 979.77 0/1 99 81 40 41 0.51 intronic rs16865262 SF3B1 AU NM_012433 exon5 c.6158-38T>C 0.157348 0.25 0.180532 0.1988 0.2712 Uncertain 2_198265173_T->A 2 198265173 198265173 T A snp 1091.77 1/1 78 40 0 40 1.0 intronic rs788017 SF3B1 AU NM_012433 exon7 c.8132+15T>A 0.717851 0.5169 0.6669 0.5370 Uncertain 2_198265526_A->G 2 198265526 198265526 A G snp 5302.77 1/1 99 201 0 201 1.0 exonic rs788018 SF3B1 AU synonymous SNV NM_012433 exon18 c.T2631C p.G877G 0.716653 0.5099 0.735082 0.6708 0.5361 ID=COSM3757860;OCCURENCE=1(large_intestine) Uncertain 2_198266943_C->T 2 198266943 198266943 C T snp 915.77 1/1 69 28 0 28 1.0 intronic rs788019 SF3B1 AU NM_012433 exon11 c.9828+89C>T 0.995008 1 Uncertain 2_198267770_-->AA 2 198267770 198267770 - AA indel 1099.73 1/1 75 29 0 29 1.0 intronic rs3217350 SF3B1 AU NM_012433 exon13 c.10733+11insAA 0.717452 0.5179 0.735783 0.6743 0.5471 Uncertain 2_198281743_T->C 2 198281743 198281743 T C snp 512.77 1/1 39 16 0 16 1.0 intronic rs699318 SF3B1 AU NM_012433 exon20 c.24609+108T>C 0.715056 0.5179 Uncertain 2_198281776_C->A 2 198281776 198281776 C A snp 285.78 1/1 24 8 0 8 1.0 intronic rs699319 SF3B1 AU NM_012433 exon20 c.24609+141C>A 0.718051 0.5179 Uncertain 2_198283305_T->C 2 198283305 198283305 T C snp 2522.77 1/1 99 97 0 97 1.0 exonic rs788023 SF3B1 AU synonymous SNV NM_012433 exon5 c.A423G p.K141K 0.720647 0.5179 0.739351 0.6725 0.5384 ID=COSM1129389;OCCURENCE=1(prostate),1(large_intestine) Uncertain 2_198324951_C->T 2 198324951 198324951 C T snp 40.77 0/1 69 8 4 4 0.5 intronic rs199501483 COQ10B AU NM_025147 exon2 c.6521+146C>T Uncertain 2_198355135_-->TG 2 198355135 198355135 - TG indel 940.73 1/1 63 26 0 26 1.0 intronic rs147990270 HSPD1 AR,AD NM_199440 exon5 c.3251+115insTG 0.692292 0.4772 Uncertain 2_198362018_T->C 2 198362018 198362018 T C snp 2881.77 1/1 99 87 0 87 1.0 exonic rs8539 HSPD1 AR,AD synonymous SNV NM_002156 exon3 c.A273G p.K91K 0.654553 0.4722 0.695371 0.6490 0.5216 CLINSIG=probable-non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=no_assertion_criteria_provided|criteria_provided\x2c_single_submitter;CLNACC=RCV000117240.2|RCV000125392.1;CLNDSDB=MedGen|MedGen;CLNDSDBID=CN169374|CN221809 Uncertain 2_198365043_C->G 2 198365043 198365043 C G snp 615.77 1/1 45 22 0 22 1.0 UTR5 rs1116734 HSPE1 AU 0.670727 0.4732 Uncertain 2_198380635_C->T 2 198380635 198380635 C T snp 345.78 1/1 27 11 0 11 1.0 intronic rs75909202 HSPE1-MOB4 AU NM_001202485 exon3 c.23187-7712C>T 0.266573 0.248 Uncertain 2_198508951_G->A 2 198508951 198508951 G A snp 5458.77 1/1 99 201 1 200 1.0 exonic rs10497806 RFTN2 AU synonymous SNV NM_144629 exon3 c.C369T p.L123L 0.680711 0.4603 0.739428 0.6600 0.5003 Uncertain 2_198511086_G->A 2 198511086 198511086 G A snp 1073.77 1/1 81 31 0 31 1.0 intronic rs16866970 RFTN2 AU NM_144629 exon8 c.74475-120G>A 0.464657 0.2222 Uncertain 2_198643631_G->A 2 198643631 198643631 G A snp 4164.77 1/1 99 153 0 153 1.0 intronic rs700655 BOLL AU NM_001284361 exon10 c.50508-67G>A 0.417931 0.2272 Uncertain 2_198669871_G->C 2 198669871 198669871 G C snp 477.77 1/1 36 14 0 14 1.0 exonic rs770658 PLCL1 AU synonymous SNV NM_006226 exon1 c.G48C p.A16A 0.480631 0.2282 0.58 . Uncertain 2_198950240_G->A 2 198950240 198950240 G A snp 5389.77 1/1 99 199 0 199 1.0 exonic rs1064213 PLCL1 AU nonsynonymous SNV NM_006226 exon2 c.G1999A p.V667I 0.379393 0.2133 0.427088 0.4477 0.2223 1.000 P -0.928 T 1.0 D 0.995 D Pathogenic 2_200173684_T->G 2 200173684 200173684 T G snp 6211.77 1/1 99 220 0 220 1.0 splicing rs10153730 SATB2 AD NM_001172509 exon2 c.36747+4T>G 0.930911 1 0.933031 0.9820 1 Pathogenic 2_200245245_C->G 2 200245245 200245245 C G snp 625.77 0/1 99 48 25 23 0.48 intronic rs1348813 SATB2 AD NM_001172509 exon7 c.108277+35C>G 0.497404 0.3601 0.629017 0.6658 0.3504 Uncertain 2_200246318_C->T 2 200246318 200246318 C T snp 1447.77 0/1 99 105 50 55 0.52 intronic rs2305262 SATB2 AD NM_001172509 exon8 c.109483-98C>T 0.404752 0.6399 Uncertain 2_200298313_A->G 2 200298313 200298313 A G snp 2772.77 1/1 99 97 0 97 1.0 intronic rs7596597 SATB2 AD NM_001172509 exon9 c.161304+76A>G 0.931909 1 Uncertain 2_200320832_T->G 2 200320832 200320832 T G snp 35.77 0/1 64 13 8 5 0.38 intronic SATB2 AD NM_001172509 exon10 c.183886+13T>G Uncertain 2_200625581_T->C 2 200625581 200625581 T C snp 1428.77 0/1 99 117 58 59 0.5 ncRNA_intronic rs2346586 FTCDNL1 AU 0.467652 0.5952 0.5803 0.6439 Uncertain 2_200677625_C->T 2 200677625 200677625 C T snp 261.8 1/1 21 8 0 8 1.0 ncRNA_intronic rs2030653 FTCDNL1 AU 0.857827 0.8165 Uncertain 2_200710706_T->G 2 200710706 200710706 T G snp 444.77 1/1 33 17 0 17 1.0 ncRNA_intronic rs769960 FTCDNL1 AU 0.805711 0.8333 Uncertain 2_200800493_A->G 2 200800493 200800493 A G snp 54.74 1/1 6 3 0 3 1.0 intronic rs6435039 TYW5 AU NM_001039693 exon2 c.2864-160A>G Uncertain 2_200820505_T->G 2 200820505 200820505 T G snp 2542.77 1/1 99 91 1 90 0.99 UTR5 rs281766 C2orf47 AU 0.870407 0.8016 0.845666 0.8327 0.7556 Uncertain 2_200821151_G->A 2 200821151 200821151 G A snp 31.77 0/1 60 8 6 2 0.25 intronic C2orf47 AU NM_024520 exon2 c.450+180G>A Uncertain 2_200872942_C->T 2 200872942 200872942 C T snp 208.84 1/1 18 6 0 6 1.0 intergenic rs6414157 C2orf47 AU 0.803714 0.8115 Uncertain 2_200873145_ATACAAAAAAAACTTG->- 2 200873145 200873160 ATACAAAAAAAACTTG - indel 17087.7 1/1 99 110 0 110 1.0 intergenic rs113489455 C2orf47 AU 0.795727 0.8115 0.7482 0.7423 Uncertain 2_201254049_G->C 2 201254049 201254049 G C snp 2867.77 0/1 99 236 109 127 0.54 intronic rs3820881 SPATS2L AU NM_015535 exon3 c.39+43G>C 0.718051 0.8095 0.713497 0.8089 0.8094 Uncertain 2_201254171_A->G 2 201254171 201254171 A G snp 1198.77 0/1 99 78 34 44 0.56 intronic rs4674015 SPATS2L AU NM_015535 exon3 c.39+165A>G 0.665136 0.7004 Uncertain 2_201354676_A->G 2 201354676 201354676 A G snp 152.77 0/1 99 8 3 5 0.63 UTR3 rs16833578 KCTD18 AU 0.101038 0.2698 Uncertain 2_201371768_G->T 2 201371768 201371768 G T snp 997.77 0/1 99 86 46 40 0.47 UTR5 rs3739116 KCTD18 AU 0.756989 0.8244 0.797324 0.7637 0.8121 Uncertain 2_201397569_G->A 2 201397569 201397569 G A snp 50.74 1/1 6 2 0 2 1.0 intronic rs842940 SGOL2 AU 0.731829 0.5575 Uncertain 2_201437328_C->A 2 201437328 201437328 C A snp 2029.77 0/1 99 165 80 85 0.52 exonic rs35987478 SGOL2 AU synonymous SNV NM_001160033 exon7 c.C2259A p.I753I 0.211262 0.2917 0.214286 0.2296 0.2969 Uncertain 2_201437334_T->C 2 201437334 201437334 T C snp 2009.77 0/1 99 173 83 90 0.52 exonic rs12052989 SGOL2 AU synonymous SNV NM_001160033 exon7 c.T2265C p.P755P 0.726038 0.8135 0.761265 0.7516 0.8069 Uncertain 2_201451006_C->T 2 201451006 201451006 C T snp 535.77 0/1 99 67 42 25 0.37 intronic rs4470327 AOX1 AU NM_001159 exon1 c.45+130C>T 0.761781 0.8194 Uncertain 2_201464295_T->C 2 201464295 201464295 T C snp 492.77 0/1 99 37 18 19 0.51 intronic rs10179964 AOX1 AU NM_001159 exon5 c.13511-47T>C 0.608626 0.7401 0.591112 0.5755 0.7216 Uncertain 2_201467231_A->G 2 201467231 201467231 A G snp 65.77 0/1 94 11 8 3 0.27 intronic rs2293524 AOX1 AU NM_001159 exon6 c.16237+163A>G 0.216454 0.2966 Uncertain 2_201470234_TT->- 2 201470234 201470235 TT - indel 169.73 0/1 36 11 2 9 0.82 intronic rs199651858 AOX1 AU NM_001159 exon10 c.19427-24_19427-23delTT 0.0441294 0.1121 0.0303 0.1110 Uncertain 2_201473674_G->A 2 201473674 201473674 G A snp 376.77 0/1 99 35 20 15 0.43 intronic rs2470902 AOX1 AU NM_001159 exon11 c.22875-32G>A 0.726637 0.8165 0.757727 0.7540 0.8069 Uncertain 2_201474237_A->G 2 201474237 201474237 A G snp 736.77 0/1 99 58 30 28 0.48 intronic rs4672858 AOX1 AU NM_001159 exon12 c.23306+100A>G 0.229633 0.2966 Uncertain 2_201480792_C->T 2 201480792 201480792 C T snp 2735.77 0/1 99 250 138 112 0.45 splicing rs17636860 AOX1 AU NM_001159 exon16 c.29955+6C>T 0.0257588 0.0407 0.001076 0.0155 0.0418 Pathogenic 2_201485572_A->G 2 201485572 201485572 A G snp 820.77 0/1 99 62 30 32 0.52 intronic rs4672865 AOX1 AU NM_001159 exon17 c.34711+30A>G 0.280152 0.3938 0.270644 0.3242 0.3955 Uncertain 2_201485649_T->G 2 201485649 201485649 T G snp 286.77 0/1 99 18 8 10 0.56 intronic rs4672866 AOX1 AU NM_001159 exon17 c.34711+107T>G 0.294129 0.3938 Uncertain 2_201485747_G->T 2 201485747 201485747 G T snp 579.77 0/1 99 42 17 25 0.6 intronic rs6761252 AOX1 AU NM_001159 exon18 c.35011-95G>T 0.327276 0.1677 Uncertain 2_201485830_G->A 2 201485830 201485830 G A snp 1174.77 0/1 99 106 56 50 0.47 intronic rs6761375 AOX1 AU NM_001159 exon18 c.35011-12G>A 0.182109 0.0903 0.150623 0.1536 0.1020 Uncertain 2_201488758_A->G 2 201488758 201488758 A G snp 2721.77 1/1 99 103 0 103 1.0 intronic rs2348021 AOX1 AU NM_001159 exon19 c.37875+52A>G 0.615415 0.5645 0.619912 0.6658 0.5836 Uncertain 2_201502898_G->A 2 201502898 201502898 G A snp 551.77 0/1 99 55 32 23 0.42 intronic rs2470900 AOX1 AU NM_001159 exon23 c.52106-39G>A 0.192891 0.4405 0.084423 0.1460 0.4551 Uncertain 2_201503176_A->G 2 201503176 201503176 A G snp 83.77 0/1 69 5 2 3 0.6 intronic rs2465663 AOX1 AU NM_001159 exon23 c.52194+151A>G 0.292532 0.4851 Uncertain 2_201505953_C->T 2 201505953 201505953 C T snp 471.77 0/1 99 33 16 17 0.52 intronic rs11887334 AOX1 AU NM_001159 exon24 c.55076+46C>T 0.334665 0.503 0.273301 0.2915 0.5126 Uncertain 2_201515939_T->C 2 201515939 201515939 T C snp 380.77 0/1 99 35 23 12 0.34 intronic rs868810 AOX1 AU NM_001159 exon26 c.65093+15T>C 0.79353 0.506 0.914193 0.8513 0.5099 Uncertain 2_201521383_T->C 2 201521383 201521383 T C snp 127.78 0/1 27 6 1 5 0.83 intronic rs2287012 AOX1 AU NM_001159 exon27 c.70733-181T>C 0.512979 0.747 Uncertain 2_201521472_G->A 2 201521472 201521472 G A snp 971.77 0/1 99 59 19 40 0.68 intronic rs2287011 AOX1 AU NM_001159 exon27 c.70733-92G>A 0.238618 0.249 Uncertain 2_201521731_A->G 2 201521731 201521731 A G snp 750.77 0/1 99 56 29 27 0.48 intronic rs4674302 AOX1 AU NM_001159 exon27 c.70829+71A>G 0.337061 0.5704 Uncertain 2_201523736_A->G 2 201523736 201523736 A G snp 186.77 0/1 99 16 9 7 0.44 intronic rs10931910 AOX1 AU NM_001159 exon28 c.73056-151A>G 0.606829 0.8423 Uncertain 2_201533215_C->T 2 201533215 201533215 C T snp 122.77 0/1 60 6 2 4 0.67 intronic rs6730363 AOX1 AU NM_001159 exon33 c.82506-122C>T 0.397564 0.3641 Uncertain 2_201534136_C->T 2 201534136 201534136 C T snp 56.74 1/1 6 4 2 2 0.5 intronic rs2715907 AOX1 AU NM_001159 exon34 c.83466-161C>T 0.394968 0.3472 Uncertain 2_201534389_A->G 2 201534389 201534389 A G snp 536.77 0/1 99 57 33 24 0.42 exonic rs3731722 AOX1 AU nonsynonymous SNV NM_001159 exon34 c.A3890G p.H1297R 0.0842652 0.0942 0.055052 0.0755 0.0775 0.32 T 0.0 P -1.105 T 0.0 T 0.0 T ID=CM126502;DIS=Increased catalytic efficiency;TAG=FP;PUB=22279051 FP Pathogenic 2_201541621_C->T 2 201541621 201541621 C T snp 1335.77 0/1 99 133 74 59 0.44 intergenic rs11678615 AOX1 AU 0.116214 0.0645 0.0827 0.0451 Uncertain 2_201686666_C->T 2 201686666 201686666 C T snp 1390.77 1/1 99 39 0 39 1.0 intronic rs6705053 BZW1 AU NM_014670 exon12 c.8929-203C>T 0.96905 1 Uncertain 2_202122995_A->G 2 202122995 202122995 A G snp 1854.77 0/1 99 151 69 82 0.54 intronic rs3769823 CASP8 AR,AD,AU NM_001080125 exon1 c.151-110A>G 0.646366 0.6964 0.669471 0.6673 0.7112 0.97 T 0.000 P -0.995 T 0.008 T 0.015 T Uncertain 2_202131587_T->G 2 202131587 202131587 T G snp 228.77 0/1 99 16 8 8 0.5 intronic rs2293554 CASP8 AR,AD,AU NM_033356 exon2 c.305+73T>G 0.280351 0.2034 Uncertain 2_202139739_-->T 2 202139739 202139739 - T indel 90.73 0/1 35 24 3 21 0.88 intronic rs35508730 CASP8 AR,AD,AU NM_033356 exon5 c.8467+63insT Uncertain 2_202141678_A->G 2 202141678 202141678 A G snp 1536.77 0/1 99 105 45 60 0.57 exonic rs35142591 CASP8 AR,AD,AU synonymous SNV NM_001228 exon8 c.A840G p.T280T 0.0071885 0.0357 0.0023 0.0297 Uncertain 2_202149417_CG->- 2 202149417 202149418 CG - indel 609.73 1/1 36 12 0 12 1.0 intronic rs377139301 CASP8 AR,AD,AU NM_033356 exon7 c.18329-121_18329-120delCG Uncertain 2_202149696_G->A 2 202149696 202149696 G A snp 3040.77 0/1 99 250 130 120 0.48 exonic rs1045487 CASP8 AR,AD,AU synonymous SNV NM_001228 exon9 c.G1011A p.K337K 0.175319 0.1885 0.106182 0.1020 0.2040 Uncertain 2_202151163_A->G 2 202151163 202151163 A G snp 1823.77 0/1 99 169 96 73 0.43 intronic rs3769818 CASP8 AR,AD,AU NM_033356 exon8 c.19972-18A>G 0.745208 0.6964 0.742888 0.7151 0.7048 Uncertain 2_202151781_T->C 2 202151781 202151781 T C snp 670.77 0/1 99 60 32 28 0.47 UTR3 rs1045494 CASP8 AR,AD,AU 0.177716 0.1925 ID=CR1413723;DIS=Breast cancer risk, association with;TAG=DP;PUB=25390939 DP Uncertain 2_202152243_-->AT 2 202152243 202152243 - AT indel 1226.73 0/1 99 76 39 37 0.49 UTR3 rs34461625 CASP8 AR,AD,AU 0.177716 0.1925 Uncertain 2_202153225_C->A 2 202153225 202153225 C A snp 405.77 0/1 99 30 14 16 0.53 UTR3 rs700635 ALS2CR12 AU 0.745208 0.6964 Uncertain 2_202213061_C->G 2 202213061 202213061 C G snp 1107.77 0/1 99 109 61 48 0.44 intronic rs3731711 ALS2CR12 AU NM_001127391 exon12 c.59648+36C>G 0.246805 0.247 0.230432 0.1765 0.2455 Uncertain 2_202215492_C->G 2 202215492 202215492 C G snp 558.77 0/1 99 40 14 26 0.65 exonic rs13014235 ALS2CR12 AU nonsynonymous SNV NM_001127391 exon3 c.G127C p.V43L 0.709065 0.7292 0.646086 0.6339 0.7314 0.6 T 0.0 P -0.984 T 0.0 T 0.0 T Pathogenic 2_202215819_T->C 2 202215819 202215819 T C snp 83.77 0/1 30 4 1 3 0.75 intronic rs3817579 ALS2CR12 AU NM_001127391 exon14 c.62637-195T>C 0.134385 0.246 Uncertain 2_202215840_C->A 2 202215840 202215840 C A snp 164.77 0/1 63 8 2 6 0.75 intronic rs2272389 ALS2CR12 AU NM_001127391 exon14 c.62637-174C>A 0.00638978 0.0317 Uncertain 2_202249060_C->T 2 202249060 202249060 C T snp 271.77 0/1 99 12 4 8 0.67 intronic rs2540328 TRAK2 AU NM_015049 exon2 c.3674+121C>T 0.239018 0.2431 Uncertain 2_202252539_G->A 2 202252539 202252539 G A snp 1265.77 0/1 99 104 52 52 0.5 exonic rs2244438 TRAK2 AU nonsynonymous SNV NM_015049 exon13 c.C1583T p.T528I 0.239018 0.2431 0.280178 0.2836 0.2410 0.01 T 0.589 P -0.992 T 0.082 T 0.03 T Pathogenic 2_202252856_T->C 2 202252856 202252856 T C snp 705.77 0/1 99 52 24 28 0.54 intronic rs2540330 TRAK2 AU NM_015049 exon4 c.7459+132T>C 0.239417 0.2431 Uncertain 2_202252873_A->C 2 202252873 202252873 A C snp 513.77 0/1 99 37 16 21 0.57 intronic rs2540331 TRAK2 AU NM_015049 exon4 c.7459+149A>C 0.236621 0.2431 Uncertain 2_202259904_C->- 2 202259904 202259904 C - indel 364.73 0/1 99 14 4 10 0.71 intronic rs144631526 TRAK2 AU NM_015049 exon9 c.14771-132delC 0.241214 0.253 Uncertain 2_202260049_G->A 2 202260049 202260049 G A snp 5187.77 1/1 99 196 0 196 1.0 exonic rs2256584 TRAK2 AU synonymous SNV NM_015049 exon8 c.C888T p.H296H 0.974641 1 0.973551 0.9924 1 Uncertain 2_202262426_C->T 2 202262426 202262426 C T snp 183.77 0/1 99 10 3 7 0.7 intronic rs57595196 TRAK2 AU NM_015049 exon10 c.17038+123C>T 0.121605 0.2103 Uncertain 2_202284236_-->TTAAT 2 202284236 202284236 - TTAAT indel 3027.73 0/1 99 119 73 46 0.39 intronic rs113582398 TRAK2 AU NM_015049 exon15 c.39874-903insTTAAT 0.758387 0.747 Uncertain 2_202285100_A->G 2 202285100 202285100 A G snp 873.77 0/1 99 68 31 37 0.54 intronic rs4507084 TRAK2 AU NM_015049 exon15 c.39874-39A>G 0.725839 0.747 0.683300 0.7071 0.7547 Uncertain 2_202337730_A->G 2 202337730 202337730 A G snp 313.77 0/1 99 36 20 16 0.44 exonic rs1019299 STRADB AU synonymous SNV NM_001206864 exon5 c.A246G p.T82T 0.710264 0.7421 0.669537 0.6865 0.7488 Uncertain 2_202342802_T->C 2 202342802 202342802 T C snp 744.77 0/1 99 43 20 23 0.53 intronic rs2243791 STRADB AU NM_001206864 exon9 c.23246-7T>C 0.242812 0.253 0.281332 0.2888 0.2478 Uncertain 2_202344180_TT->- 2 202344180 202344181 TT - indel 615.73 ./1 99 20 0 20 1.0 intronic rs398060956 STRADB AU NM_001206864 exon11 c.24648-31_24648-30delTT 0.0646 0.2426 Uncertain 2_202344180_T->- 2 202344180 202344180 T - indel 615.73 ./1 99 20 0 20 1.0 intronic rs34469362 STRADB AU NM_001206864 exon11 c.24648-31delT 0.8962 0.7504 Uncertain 2_202352649_A->G 2 202352649 202352649 A G snp 499.77 1/1 39 15 0 15 1.0 intronic rs2714481 ALS2CR11 AU NM_001168221 exon1 c.291+24A>G 0.516174 0.5159 0.494376 0.4491 0.5176 Uncertain 2_202357949_A->C 2 202357949 202357949 A C snp 2955.77 1/1 99 102 0 102 1.0 exonic rs2714482 ALS2CR11 AU nonsynonymous SNV NM_001168221 exon15 c.T3115G p.C1039G 0.996605 1 0.9990 1 0.54 T 0.0 P -1.011 T 0.0 T 0.0 T Pathogenic 2_202402251_AC->- 2 202402251 202402252 AC - indel 357.75 1/1 24 8 0 8 1.0 intronic rs3083390 ALS2CR11 AU NM_001168217 exon2 c.1606+49_1606+50delAC 0.663738 0.9643 0.578135 0.6748 0.9407 Uncertain 2_202410147_C->A 2 202410147 202410147 C A snp 216.84 1/1 18 6 0 6 1.0 intronic rs10931955 ALS2CR11 AU NM_001168217 exon3 c.9669-118C>A 0.513578 0.7569 Uncertain 2_202410300_A->T 2 202410300 202410300 A T snp 617.77 1/1 45 24 0 24 1.0 exonic rs10804117 ALS2CR11 AU nonsynonymous SNV NM_001168216 exon11 c.T1128A p.H376Q 0.513578 0.7569 0.382684 0.4651 0.7403 0.7 T 0.0 P -0.989 T 0.0 T 0.0 T Pathogenic 2_202447009_C->T 2 202447009 202447009 C T snp 388.77 1/1 30 11 0 11 1.0 intronic rs13425990 ALS2CR11 AU NM_001168217 exon9 c.46344+69C>T 0.505391 0.747 Uncertain 2_202468136_T->A 2 202468136 202468136 T A snp 522.77 1/1 39 17 0 17 1.0 intronic rs10205247 ALS2CR11 AU NM_001168217 exon11 c.67402+138T>A 0.513578 0.7262 Uncertain 2_202469361_C->T 2 202469361 202469361 C T snp 3530.77 1/1 99 142 0 142 1.0 exonic rs12474206 ALS2CR11 AU synonymous SNV NM_001168216 exon2 c.G291A p.T97T 0.977636 1 0.979468 0.9936 1 Uncertain 2_202469472_A->G 2 202469472 202469472 A G snp 1297.77 1/1 96 39 0 39 1.0 intronic rs7572583 ALS2CR11 AU NM_001168217 exon12 c.68824+52A>G 0.977636 1 0.977435 0.9935 1 Uncertain 2_202469533_T->G 2 202469533 202469533 T G snp 286.78 1/1 24 8 0 8 1.0 intronic rs7560158 ALS2CR11 AU NM_001168217 exon12 c.68824+113T>G 0.873003 0.9712 Uncertain 2_202484003_-->C 2 202484003 202484003 - C indel 344.74 1/1 27 9 0 9 1.0 upstream;downstream rs397812942 ALS2CR11;TMEM237 UN 0.9998 1 Uncertain 2_202491995_G->A 2 202491995 202491995 G A snp 858.77 0/1 99 83 47 36 0.43 intronic rs2540450 TMEM237 AR NM_152388 exon3 c.3066-48G>A 0.361821 0.6478 0.251687 0.3317 0.6216 Uncertain 2_202499465_G->A 2 202499465 202499465 G A snp 685.77 0/1 99 60 30 30 0.5 intronic rs79302828 TMEM237 AR NM_152388 exon8 c.9177+1311G>A 0.00339457 0.006 Uncertain 2_202499683_C->G 2 202499683 202499683 C G snp 550.77 0/1 99 39 16 23 0.59 intronic rs56162425 TMEM237 AR NM_152388 exon8 c.9177+1529C>G 0.38778 0.3155 Uncertain 2_202501448_T->C 2 202501448 202501448 T C snp 1193.77 0/1 99 89 39 50 0.56 intronic rs1208081 TMEM237 AR NM_152388 exon9 c.12493-22T>C 0.585064 0.3542 0.668604 0.6566 0.4388 Uncertain 2_202505740_T->A 2 202505740 202505740 T A snp 170.9 1/1 15 7 0 7 1.0 intronic rs2540424 TMEM237 AR NM_152388 exon11 c.16670+93T>A 0.810503 0.9861 Uncertain 2_202507232_G->C 2 202507232 202507232 G C snp 1589.77 0/1 99 132 71 61 0.46 intronic rs2241135 TMEM237 AR NM_152388 exon12 c.18354-99G>C 0.0896565 0.1806 Uncertain 2_202507353_G->C 2 202507353 202507353 G C snp 3472.77 0/1 99 248 119 129 0.52 intronic rs2241133 TMEM237 AR NM_152388 exon12 c.18354+22G>C 0.111422 0.2282 0.064346 0.0535 0.2346 CLINSIG=non-pathogenic;CLNDBN=not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000125530.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Uncertain 2_202507982_T->C 2 202507982 202507982 T C snp 3588.77 1/1 99 129 0 129 1.0 intronic rs6723016 TMEM237 AR NM_001044385 exon12 c.19104-99T>C 0.520966 0.6935 Uncertain 2_202509814_T->C 2 202509814 202509814 T C snp 328.78 1/1 27 14 0 14 1.0 UTR3 rs3754932 MPP4 AU 0.504193 0.6756 Uncertain 2_202512449_C->T 2 202512449 202512449 C T snp 1354.77 0/1 99 113 52 61 0.54 exonic rs11894115 MPP4 AU nonsynonymous SNV NM_033066 exon21 c.G1684A p.V562I 0.183506 0.4048 0.084880 0.0833 0.4215 1 T 0.000 P -0.940 T 0.0 T 0.006 T Pathogenic 2_202514201_C->T 2 202514201 202514201 C T snp 982.77 0/1 99 73 33 40 0.55 intronic rs10194353 MPP4 AU NM_033066 exon3 c.4366-97C>T 0.184305 0.4048 Uncertain 2_202521104_A->G 2 202521104 202521104 A G snp 331.77 0/1 99 28 12 16 0.57 intronic rs76603204 MPP4 AU NM_033066 exon6 c.11159+13A>G 0.0415335 0.1855 0.000411 0.0135 0.1905 Uncertain 2_202523347_C->T 2 202523347 202523347 C T snp 1865.77 0/1 99 124 55 69 0.56 intronic rs2597900 MPP4 AU NM_033066 exon7 c.13309+106C>T 0.480631 0.5665 Uncertain 2_202526353_T->C 2 202526353 202526353 T C snp 117.77 0/1 99 15 9 6 0.4 intronic rs12052740 MPP4 AU NM_033066 exon8 c.15137+1284T>C 0.0786741 0.1865 Uncertain 2_202526366_G->A 2 202526366 202526366 G A snp 140.77 0/1 99 10 5 5 0.5 intronic rs62193397 MPP4 AU NM_033066 exon8 c.15137+1297G>A 0.275759 0.3194 Uncertain 2_202528830_-->T 2 202528830 202528830 - T indel 1478.73 0/1 99 105 53 52 0.5 splicing rs398080988 MPP4 AU NM_033066 exon9 c.18892+6insT 0.320887 0.3095 0.386234 0.4808 0.4382 Pathogenic 2_202531136_G->C 2 202531136 202531136 G C snp 952.77 0/1 99 70 33 37 0.53 intronic rs17384314 MPP4 AU NM_033066 exon10 c.21163+41G>C 0.278754 0.3085 0.313882 0.3943 0.3694 Uncertain 2_202546113_T->C 2 202546113 202546113 T C snp 2144.77 1/1 99 71 0 71 1.0 intronic rs1208073 MPP4 AU NM_033066 exon14 c.36286-105T>C 0.976238 1 Uncertain 2_202549666_A->C 2 202549666 202549666 A C snp 56.74 1/1 6 2 0 2 1.0 intronic rs1812932 MPP4 AU NM_033066 exon16 c.39854-120A>C 0.266773 0.3046 Uncertain 2_202557702_C->T 2 202557702 202557702 C T snp 2260.77 1/1 99 79 0 79 1.0 exonic rs6725443 MPP4 AU nonsynonymous SNV NM_033066 exon3 c.G130A p.G44S 0.97504 1 0.972056 0.9924 1 0.78 T 0.000 P -0.987 T 0.007 T 0.003 T Pathogenic 2_202566741_T->C 2 202566741 202566741 T C snp 232.84 1/1 18 9 0 9 1.0 intronic rs7603563 ALS2 AR NM_020919 exon1 c.39+129T>C 0.905551 0.9742 Uncertain 2_202569992_A->T 2 202569992 202569992 A T snp 5117.77 1/1 99 169 1 168 0.99 intronic rs3219171 ALS2 AR NM_020919 exon4 c.3350+69A>T 0.90595 0.9742 0.887648 Uncertain 2_202570232_A->G 2 202570232 202570232 A G snp 268.8 1/1 21 10 0 10 1.0 intronic rs3219170 ALS2 AR NM_020919 exon5 c.3611+48A>G 0.90595 0.9742 0.890644 0.9236 0.9851 Uncertain 2_202574825_C->T 2 202574825 202574825 C T snp 350.78 1/1 27 12 0 12 1.0 intronic rs1210940 ALS2 AR NM_020919 exon8 c.8188+64C>T 0.978235 1 Uncertain 2_202575821_G->A 2 202575821 202575821 G A snp 2351.77 1/1 99 83 1 82 0.99 exonic rs3219168 ALS2 AR synonymous SNV NM_020919 exon26 c.C4015T p.L1339L 0.905351 0.9742 0.890003 0.9232 0.9849 Uncertain 2_202575907_A->G 2 202575907 202575907 A G snp 1033.77 1/1 75 39 0 39 1.0 intronic rs2882231 ALS2 AR NM_020919 exon9 c.9258+76A>G 0.50619 0.3492 Uncertain 2_202580370_G->A 2 202580370 202580370 G A snp 2746.77 1/1 99 79 0 79 1.0 intronic rs3219167 ALS2 AR NM_020919 exon10 c.13821-24G>A 0.804113 0.7361 0.820528 0.8305 0.7474 Uncertain 2_202588160_C->T 2 202588160 202588160 C T snp 2838.77 0/1 99 248 121 127 0.51 exonic rs41309046 ALS2 AR nonsynonymous SNV NM_020919 exon22 c.G3517A p.E1173K 0.00579073 0.0268 0.0022 0.0263 0.06 T 1.000 D -0.968 T 0.987 D 0.804 D Pathogenic 2_202594027_A->G 2 202594027 202594027 A G snp 34.77 0/1 63 7 5 2 0.29 intronic rs41308834 ALS2 AR NM_020919 exon21 c.27333+121A>G 0.000399361 0.002 Uncertain 2_202594039_A->G 2 202594039 202594039 A G snp 222.84 1/1 18 6 0 6 1.0 intronic rs13029960 ALS2 AR NM_020919 exon21 c.27333+133A>G 0.434305 0.3492 Uncertain 2_202598113_C->T 2 202598113 202598113 C T snp 2140.77 1/1 99 74 0 74 1.0 exonic rs2276615 ALS2 AR synonymous SNV NM_020919 exon13 c.G2466A p.V822V 0.372404 0.3502 0.468002 0.5272 0.3467 Uncertain 2_202603147_A->G 2 202603147 202603147 A G snp 120.03 1/1 12 4 0 4 1.0 intronic rs3731704 ALS2 AR NM_020919 exon23 c.36819-245A>G 0.4377 0.372 Uncertain 2_202606639_G->A 2 202606639 202606639 G A snp 2464.77 1/1 99 82 0 82 1.0 intronic rs3731703 ALS2 AR NM_020919 exon24 c.40004+62G>A 0.434105 0.372 Uncertain 2_202608877_C->A 2 202608877 202608877 C A snp 756.77 1/1 57 20 0 20 1.0 intronic rs4673207 ALS2 AR NM_020919 exon25 c.42407-103C>A 0.459864 0.373 Uncertain 2_202625615_C->T 2 202625615 202625615 C T snp 5686.77 1/1 99 208 0 208 1.0 exonic rs3219156 ALS2 AR nonsynonymous SNV NM_020919 exon4 c.G1102A p.V368M 0.896565 1 0.861446 0.9106 0.9999 0.29 T 0.000 P -0.997 T 0.006 T 0.009 T Pathogenic 2_202688293_A->G 2 202688293 202688293 A G snp 1130.77 1/1 84 32 0 32 1.0 intronic rs4675229 CDK15 AU NM_001261436 exon6 c.17000-94A>G 0.924121 1 Uncertain 2_202712095_A->C 2 202712095 202712095 A C snp 2251.77 1/1 99 85 0 85 1.0 intronic rs917958 CDK15 AU NM_001261436 exon9 c.40716-8A>C 0.997804 1 0.996002 0.9990 1 Uncertain 2_202741064_G->A 2 202741064 202741064 G A snp 31.77 0/1 60 9 7 2 0.22 intronic rs2072504 CDK15 AU NM_001261436 exon12 c.73363-3686G>A 0.413938 0.2341 Uncertain 2_202741256_A->T 2 202741256 202741256 A T snp 1663.77 1/1 99 60 0 60 1.0 intronic rs4675235 CDK15 AU NM_001261436 exon12 c.73363-3494A>T 0.914137 0.996 0.8846 0.9949 Uncertain 2_202741269_G->A 2 202741269 202741269 G A snp 1566.77 1/1 99 58 0 58 1.0 intronic rs4675236 CDK15 AU NM_001261436 exon12 c.73363-3481G>A 0.91274 0.996 0.8850 0.9949 Uncertain 2_202939836_G->C 2 202939836 202939836 G C snp 337.77 0/1 99 40 22 18 0.45 exonic rs16838742 KIAA2012 AU nonsynonymous SNV NM_001277372 exon2 c.G307C p.D103H 0.197684 0.2937 0.1291 0.2593 0.02 T 0.0 P -1.044 T 0.986 D 0.794 D Pathogenic 2_202955708_G->A 2 202955708 202955708 G A snp 506.77 0/1 99 40 22 18 0.45 intronic rs141809974 KIAA2012 AU NM_001277372 exon3 c.17302+56G>A 0.00219649 0.0109 Uncertain 2_202974360_T->G 2 202974360 202974360 T G snp 809.77 0/1 99 103 61 42 0.41 exonic rs12615065 KIAA2012 AU nonsynonymous SNV NM_001277372 exon10 c.T1604G p.V535G 0.127995 0.1776 0.1863 0.1878 0.56 T 0.000 P -1.060 T 0.001 T 0.003 T Pathogenic 2_203000717_A->T 2 203000717 203000717 A T snp 187.9 1/1 15 8 0 8 1.0 intronic rs7578906 KIAA2012 AU NM_001277372 exon13 c.64804-2437A>T 0.405351 0.5823 0.5121 0.5804 Uncertain 2_203000729_A->T 2 203000729 203000729 A T snp 190.9 1/1 15 8 0 8 1.0 intronic rs56806886 KIAA2012 AU NM_001277372 exon13 c.64804-2425A>T 0.25 0.4246 0.2260 0.4079 Uncertain 2_203000730_A->T 2 203000730 203000730 A T snp 184.9 1/1 15 8 0 8 1.0 intronic rs9679591 KIAA2012 AU NM_001277372 exon13 c.64804-2424A>T 0.676518 0.6528 0.5126 0.5929 Uncertain 2_203003066_-->GTGT 2 203003066 203003066 - GTGT indel 5821.73 1/1 99 93 0 93 1.0 intronic rs3043926 KIAA2012 AU NM_001277372 exon13 c.64804-88insGTGT 0.6113 0.5730 Uncertain 2_203003085_T->C 2 203003085 203003085 T C snp 4326.77 1/1 99 148 0 148 1.0 intronic rs16838883 KIAA2012 AU NM_001277372 exon13 c.64804-69T>C 0.405152 0.5833 0.3487 0.5306 Uncertain 2_203029951_T->A 2 203029951 203029951 T A snp 1823.77 1/1 99 64 0 64 1.0 intronic rs7582695 KIAA2012 AU NM_001277372 exon15 c.91656-55T>A 0.770168 0.877 Uncertain 2_203051886_C->T 2 203051886 203051886 C T snp 823.77 1/1 60 26 0 26 1.0 intronic rs6722588 KIAA2012 AU NM_001277372 exon17 c.113471+65C>T 0.858027 0.877 Uncertain 2_203079307_T->C 2 203079307 203079307 T C snp 437.77 1/1 33 15 0 15 1.0 intronic rs3769817 SUMO1 AU NM_003352 exon3 c.7182+150T>C 0.852436 0.877 Uncertain 2_203139738_-->C 2 203139738 203139738 - C indel 429.73 1/1 33 11 0 11 1.0 intronic rs11397579 NOP58 AU NM_015934 exon2 c.9171-97insC 0.982228 1 Uncertain 2_203160326_G->T 2 203160326 203160326 G T snp 263.77 0/1 99 21 11 10 0.48 intronic rs117829266 NOP58 AU NM_015934 exon10 c.29732-70G>T 0.0061901 0.0308 Uncertain 2_203384776_-->T 2 203384776 203384776 - T indel 388.77 0/1 20 26 4 22 0.85 intronic rs11390605 BMPR2 AD NM_001204 exon7 c.142612-33insT 0.457468 0.5159 0.4365 0.4920 Uncertain 2_203621800_A->C 2 203621800 203621800 A C snp 37.77 0/1 66 6 4 2 0.33 intronic rs16839308 FAM117B AU NM_173511 exon6 c.122025-135A>C 0.211661 0.2817 Uncertain 2_203651279_A->- 2 203651279 203651279 A - indel 267.73 0/1 99 21 9 12 0.57 intronic rs55689177 ICA1L AU NM_138468 exon2 c.6475+549delA 0.532348 0.3393 Uncertain 2_203661779_A->G 2 203661779 203661779 A G snp 351.78 1/1 27 11 0 11 1.0 intronic rs6704822 ICA1L AU NM_138468 exon4 c.17432+92A>G 0.8123 0.8502 Uncertain 2_203690387_G->A 2 203690387 203690387 G A snp 483.77 1/1 36 15 0 15 1.0 intronic rs1344959 ICA1L AU NM_138468 exon11 c.46162-30G>A 0.86881 0.9276 0.881668 0.9199 0.9280 Uncertain 2_203693559_C->G 2 203693559 203693559 C G snp 6056.77 1/1 99 220 0 220 1.0 intronic rs4675296 ICA1L AU NM_138468 exon12 c.49315-11C>G 0.869609 0.9276 0.883054 0.9177 0.9259 Uncertain 2_203748544_-->T 2 203748544 203748544 - T indel 717.73 1/1 81 41 0 41 1.0 intronic rs34788166 WDR12 AU NM_018256 exon3 c.2882+80insT 0.885383 0.9147 Uncertain 2_203748594_A->G 2 203748594 203748594 A G snp 248.8 1/1 21 10 0 10 1.0 intronic rs10196719 WDR12 AU NM_018256 exon3 c.2882+130A>G 0.868411 0.9276 Uncertain 2_203749392_-->TTT 2 203749392 203749392 - TTT indel 811.73 1/1 42 15 0 15 1.0 intronic rs3050865 WDR12 AU NM_018256 exon5 c.3676+134insTTT 0.86881 0.9276 Uncertain 2_203820275_T->C 2 203820275 203820275 T C snp 231.77 0/1 99 14 5 9 0.64 intronic rs3731695 CARF AU NM_024744 exon8 c.13771-121T>C 0.425719 0.3254 Uncertain 2_203880992_T->C 2 203880992 203880992 T C snp 794.77 1/1 57 29 0 29 1.0 UTR5 rs2351524 NBEAL1 AU 0.944888 0.9841 Uncertain 2_203921270_A->G 2 203921270 203921270 A G snp 2318.77 1/1 99 81 0 81 1.0 intronic rs4673241 NBEAL1 AU NM_001114132 exon5 c.40124+39A>G 0.877596 0.9276 0.900526 0.9312 0.9270 Uncertain 2_203991488_A->G 2 203991488 203991488 A G snp 866.77 0/1 99 80 43 37 0.46 intronic rs6725469 NBEAL1 AU NM_001114132 exon21 c.110332+49A>G 0.354233 0.5903 0.267411 0.3230 0.5541 Uncertain 2_203996635_T->G 2 203996635 203996635 T G snp 295.77 0/1 99 26 14 12 0.46 intronic rs9677190 NBEAL1 AU NM_001114132 exon25 c.115588-60T>G 0.375799 0.5913 Uncertain 2_203996870_A->G 2 203996870 203996870 A G snp 2762.77 1/1 99 95 0 95 1.0 intronic rs6748898 NBEAL1 AU NM_001114132 exon25 c.115748+15A>G 0.896765 0.9296 0.923565 0.9418 0.9214 Uncertain 2_204001559_G->A 2 204001559 204001559 G A snp 678.77 0/1 99 52 24 28 0.54 intronic rs145441017 NBEAL1 AU NM_001114132 exon28 c.120390+62G>A 0.00339457 0.0169 Uncertain 2_204002809_A->C 2 204002809 204002809 A C snp 464.77 1/1 36 13 0 13 1.0 intronic rs10180815 NBEAL1 AU NM_001114132 exon29 c.121777-75A>C 0.881989 0.9276 Uncertain 2_204022478_G->T 2 204022478 204022478 G T snp 358.77 0/1 99 45 30 15 0.33 exonic rs76455076 NBEAL1 AU nonsynonymous SNV NM_001114132 exon35 c.G5557T p.V1853L 0.00599042 0.0298 0.0023 0.0313 0.39 T 1.000 D -1.071 T 0.451 T 0.137 P Pathogenic 2_204062061_A->G 2 204062061 204062061 A G snp 6435.77 1/1 99 250 1 249 1.0 exonic rs4675323 NBEAL1 AU nonsynonymous SNV NM_001114132 exon47 c.A6988G p.I2330V 0.860823 0.9246 0.893814 0.9359 0.9240 1 T 0.000 P -0.949 T 0.0 T 0.0 T Pathogenic 2_204067268_A->G 2 204067268 204067268 A G snp 50.74 1/1 6 2 0 2 1.0 intronic rs2060388 NBEAL1 AU NM_001114132 exon50 c.186302-141A>G 0.859225 0.9276 Uncertain 2_204073227_T->C 2 204073227 204073227 T C snp 158.77 0/1 99 8 3 5 0.63 intronic NBEAL1 AU NM_001114132 exon51 c.192252-132T>C Uncertain 2_204090887_C->G 2 204090887 204090887 C G snp 2537.77 1/1 99 96 0 96 1.0 intergenic rs2351773 NBEAL1 AU 0.858427 0.9276 0.9418 0.9293 Uncertain 2_204110748_G->A 2 204110748 204110748 G A snp 122.77 0/1 66 7 2 5 0.71 intronic rs56317341 CYP20A1 AU NM_177538 exon2 c.6833+130G>A 0.398762 0.3204 Uncertain 2_204111394_T->C 2 204111394 204111394 T C snp 1153.77 1/1 84 31 0 31 1.0 intronic rs13015873 CYP20A1 AU NM_177538 exon3 c.7692-83T>C 0.906949 0.9276 Uncertain 2_204111399_TTAA->- 2 204111399 204111402 TTAA - indel 2189.73 1/1 96 32 0 32 1.0 intronic rs10586509 CYP20A1 AU NM_177538 exon3 c.7692-78_7692-75delTTAA 0.90595 0.9276 Uncertain 2_204111443_A->G 2 204111443 204111443 A G snp 2659.77 1/1 99 90 0 90 1.0 intronic rs6435176 CYP20A1 AU NM_177538 exon3 c.7692-34A>G 0.86901 0.9266 0.890435 0.9368 0.9268 Uncertain 2_204111705_T->C 2 204111705 204111705 T C snp 1716.77 1/1 99 50 0 50 1.0 intronic rs6751894 CYP20A1 AU NM_177538 exon3 c.7859+61T>C 0.997604 1 Uncertain 2_204116660_A->T 2 204116660 204116660 A T snp 1501.77 0/1 99 100 45 55 0.55 intronic rs3731694 CYP20A1 AU NM_177538 exon4 c.12904-29A>T 0.406749 0.3204 0.452238 0.5048 0.2979 Uncertain 2_204116690_C->T 2 204116690 204116690 C T snp 4207.77 1/1 99 151 0 151 1.0 exonic rs2043449 CYP20A1 AU nonsynonymous SNV NM_177538 exon4 c.C290T p.S97L 0.869409 0.9266 0.888129 0.9364 0.9269 0.265 P -0.970 T 0.002 T 0.002 T Pathogenic 2_204116887_T->G 2 204116887 204116887 T G snp 2290.77 1/1 99 72 0 72 1.0 intronic rs2351771 CYP20A1 AU NM_177538 exon4 c.13047+55T>G 0.869409 0.9256 Uncertain 2_204154552_C->T 2 204154552 204154552 C T snp 839.77 0/1 99 106 65 41 0.39 exonic rs1048013 CYP20A1 AU nonsynonymous SNV NM_177538 exon10 c.C1036T p.L346F 0.39996 0.3194 0.447178 0.5027 0.2977 0.61 T 1.000 P -0.929 T 0.005 T 0.023 T Pathogenic 2_204154686_A->G 2 204154686 204154686 A G snp 394.77 1/1 30 12 0 12 1.0 intronic rs10170454 CYP20A1 AU NM_177538 exon10 c.50814+87A>G 0.870607 0.9266 Uncertain 2_204157238_A->G 2 204157238 204157238 A G snp 99.28 1/1 9 3 0 3 1.0 intronic rs6727994 CYP20A1 AU NM_177538 exon11 c.53264+189A>G 0.869409 0.9266 Uncertain 2_204206977_C->T 2 204206977 204206977 C T snp 1528.77 1/1 99 56 0 56 1.0 intronic rs4675333 ABI2 AU NM_001282926 exon1 c.117+13623C>T 0.995407 1 0.9992 1 Uncertain 2_204261723_G->C 2 204261723 204261723 G C snp 1915.77 0/1 99 143 64 79 0.55 intronic rs3731652 ABI2 AU NM_001282926 exon7 c.68453+33G>C 0.651757 0.4325 0.8011 0.4928 Uncertain 2_204305093_T->C 2 204305093 204305093 T C snp 1210.77 0/1 99 106 52 54 0.51 exonic rs3814365 RAPH1 AU synonymous SNV NM_213589 exon14 c.A2820G p.P940P 0.415335 0.3909 0.452791 0.5144 0.3638 Uncertain 2_204322298_T->C 2 204322298 204322298 T C snp 1651.77 0/1 99 151 73 78 0.52 exonic rs2469953 RAPH1 AU synonymous SNV NM_213589 exon8 c.A1113G p.K371K 0.596845 0.4067 0.632477 0.5862 0.3827 Uncertain 2_204355822_G->A 2 204355822 204355822 G A snp 182.77 0/1 99 13 7 6 0.46 intronic rs2469962 RAPH1 AU NM_203365 exon14 c.49136-114G>A 0.604832 0.3988 Uncertain 2_204732714_A->G 2 204732714 204732714 A G snp 1477.77 0/1 99 123 58 65 0.53 exonic rs231775 CTLA4 AU,AD nonsynonymous SNV NM_005214 exon1 c.A49G p.T17A 0.427316 0.6369 0.369445 0.4112 0.6689 0.09 T 0.0 P -0.908 T 0.015 T 0.006 T CLINSIG=other|other|other|other|other;CLNDBN=Hashimoto_thyroiditis\x2c_susceptibility_to|Thyroid-associated_orbitopathy\x2c_susceptibility_to|Systemic_lupus_erythematosus\x2c_susceptibility_to|Diabetes_mellitus\x2c_insulin-dependent\x2c_susceptibility_to|Celiac_disease_3;CLNREVSTAT=no_assertion_criteria_provided|no_assertion_criteria_provided|no_assertion_criteria_provided|no_assertion_criteria_provided|no_assertion_criteria_provided;CLNACC=RCV000018423.1|RCV000018424.1|RCV000018425.1|RCV000018426.1|RCV000018427.1;CLNDSDB=.|.|.|.|MedGen:OMIM;CLNDSDBID=.|.|.|.|C1857845:609755 ID=CM970403;DIS=IDDM, association with;TAG=DFP;PUB=9259273 DFP Pathogenic 2_204732850_A->G 2 204732850 204732850 A G snp 3439.77 1/1 99 132 0 132 1.0 intronic rs231776 CTLA4 AU,AD NM_005214 exon1 c.109+76A>G 0.990615 1 Uncertain 2_204822670_-->T 2 204822670 204822670 - T indel 265.73 0/1 99 54 17 37 0.69 intronic rs397712353 ICOS AR NM_012092 exon4 c.21069+64insT 0.233427 0.3462 Uncertain 2_204824179_GT->- 2 204824179 204824180 GT - indel 1883.73 1/1 99 49 0 49 1.0 intronic rs112626862 ICOS AR NM_012092 exon5 c.22771-129_22771-128delGT Uncertain 2_204824283_T->G 2 204824283 204824283 T G snp 2204.77 0/1 99 188 96 92 0.49 intronic rs10172036 ICOS AR NM_012092 exon5 c.22771-25T>G 0.515375 0.4534 0.592957 0.5737 0.4462 Uncertain 2_205829991_C->T 2 205829991 205829991 C T snp 926.77 0/1 99 101 58 43 0.43 exonic rs236843 PARD3B AU synonymous SNV NM_152526 exon3 c.C339T p.A113A 0.803714 0.7718 0.664031 0.6611 0.7673 Uncertain 2_205912403_T->C 2 205912403 205912403 T C snp 148.77 0/1 99 44 36 8 0.18 exonic rs1510765 PARD3B AU nonsynonymous SNV NM_152526 exon4 c.T494C p.L165P 0.544728 0.4802 0.611409 0.6182 0.4602 1 T 0.593 P -0.958 T 0.0 T 0.0 T Pathogenic 2_205969023_A->C 2 205969023 205969023 A C snp 424.77 0/1 99 29 15 14 0.48 intronic rs2289024 PARD3B AU NM_057177 exon5 c.558427-126A>C 0.539936 0.5883 Uncertain 2_205969220_G->A 2 205969220 205969220 G A snp 4130.77 1/1 99 144 0 144 1.0 exonic rs2289025 PARD3B AU nonsynonymous SNV NM_152526 exon5 c.G575A p.R192K 0.663538 0.8085 0.598752 0.6439 0.7916 0.96 T 0.0 P -0.989 T 0.0 T 0.001 T Pathogenic 2_205978114_AG->- 2 205978114 205978115 AG - indel 653.73 1/1 73 25 0 25 1.0 intronic rs200294145 PARD3B AU NM_057177 exon6 c.567492-100_567492-99delAG 0.00179712 Uncertain 2_205978118_GTGT->- 2 205978118 205978121 GTGT - indel 759.82 1/1 17 28 9 19 0.68 intronic rs3217407 PARD3B AU NM_057177 exon6 c.567492-96_567492-93delGTGT Uncertain 2_205978347_-->GATTTGA 2 205978347 205978347 - GATTTGA indel 3945.73 0/1 99 145 71 74 0.51 intronic rs34911234 PARD3B AU NM_057177 exon6 c.567579+46insGATTTGA 0.315296 0.4226 0.257039 0.3070 0.4036 Uncertain 2_205986321_A->G 2 205986321 205986321 A G snp 2276.77 0/1 99 156 66 90 0.58 exonic rs2289023 PARD3B AU synonymous SNV NM_152526 exon8 c.A813G p.Q271Q 0.270367 0.4058 0.202114 0.2579 0.3939 Uncertain 2_205986767_C->T 2 205986767 205986767 C T snp 81.9 0/1 15 6 2 4 0.67 intronic rs1434161 PARD3B AU NM_057177 exon8 c.575951+94C>T 0.386382 0.4157 Uncertain 2_205990353_C->T 2 205990353 205990353 C T snp 960.77 0/1 99 104 61 43 0.41 exonic rs2276676 PARD3B AU synonymous SNV NM_152526 exon10 c.C1326T p.T442T 0.307109 0.4167 0.259118 0.3301 0.4116 Uncertain 2_206036918_C->T 2 206036918 206036918 C T snp 1320.77 0/1 99 136 81 55 0.4 intronic rs736320 PARD3B AU NM_057177 exon12 c.626212-16C>T 0.710663 0.6111 0.778009 0.7231 0.6372 Uncertain 2_206041367_A->- 2 206041367 206041367 A - indel 268.74 1/1 29 33 1 32 0.97 intronic rs11329569 PARD3B AU NM_057177 exon13 c.630579+66delA 0.69389 0.8155 Uncertain 2_206364737_T->C 2 206364737 206364737 T C snp 1134.77 1/1 81 41 0 41 1.0 exonic rs10197347 PARD3B AU synonymous SNV NM_152526 exon20 c.T2976C p.S992S 0.448482 0.4871 0.379174 0.4426 0.5013 Uncertain 2_206418032_G->A 2 206418032 206418032 G A snp 2589.77 1/1 99 92 0 92 1.0 intronic rs6730102 PARD3B AU NM_057177 exon21 c.1007325-15G>A 0.942492 1 0.940030 0.9827 1 Uncertain 2_206480054_C->T 2 206480054 206480054 C T snp 83.77 0/1 30 4 1 3 0.75 intronic rs13387277 PARD3B AU NM_057177 exon22 c.1069457-125C>T 0.28155 0.1796 Uncertain 2_206481573_A->G 2 206481573 206481573 A G snp 459.77 1/1 36 12 0 12 1.0 UTR3 rs4673336 PARD3B AU 0.819489 0.998 Uncertain 2_206481613_GA->- 2 206481613 206481614 GA - indel 2088.73 1/1 99 51 0 51 1.0 UTR3 rs10572381 PARD3B AU 0.811502 0.9891 Uncertain 2_206562250_C->T 2 206562250 206562250 C T snp 1634.77 1/1 99 63 0 63 1.0 intronic rs849558 NRP2 AU NM_201279 exon2 c.14253-17C>T 0.891374 0.8938 0.919806 0.9523 0.9170 Uncertain 2_206581033_G->A 2 206581033 206581033 G A snp 1977.77 1/1 99 66 0 66 1.0 exonic rs849541 NRP2 AU nonsynonymous SNV NM_201266 exon3 c.G368A p.R123K 0.964257 1 0.963709 0.9895 1 1 T 0.003 P -0.913 T 0.001 T 0.004 T Pathogenic 2_206592525_A->G 2 206592525 206592525 A G snp 297.78 1/1 24 9 0 9 1.0 intronic rs849527 NRP2 AU NM_201279 exon7 c.44600-89A>G 0.515176 0.8095 Uncertain 2_206592695_T->C 2 206592695 206592695 T C snp 3519.77 1/1 99 124 0 124 1.0 exonic rs849526 NRP2 AU synonymous SNV NM_201266 exon7 c.T1071C p.Y357Y 0.517572 0.8075 0.411195 0.5702 0.8125 Uncertain 2_206605180_T->G 2 206605180 206605180 T G snp 2875.77 1/1 99 112 0 112 1.0 intronic rs849575 NRP2 AU NM_201279 exon8 c.57228-62T>G 0.249401 0.4544 Uncertain 2_206608039_T->C 2 206608039 206608039 T C snp 3441.77 1/1 99 114 0 114 1.0 exonic rs849568 NRP2 AU synonymous SNV NM_201266 exon9 c.T1404C p.V468V 0.964657 1 0.955251 0.9805 0.9994 Uncertain 2_206610502_T->G 2 206610502 206610502 T G snp 7533.77 1/1 99 245 0 245 1.0 exonic rs849563 NRP2 AU synonymous SNV NM_201266 exon10 c.T1674G p.P558P 0.25599 0.4593 0.157466 0.1861 0.4480 ID=CM073248;DIS=Autism, association with;TAG=DP;PUB=17427189 DP Uncertain 2_206614646_T->G 2 206614646 206614646 T G snp 561.77 1/1 42 16 0 16 1.0 intronic rs10932123 NRP2 AU NM_201279 exon11 c.66551+81T>G 0.548722 0.504 Uncertain 2_206630073_-->AC 2 206630073 206630073 - AC indel 974.73 0/1 99 68 38 30 0.44 intronic rs112194118 NRP2 AU NM_201279 exon14 c.82183-124insAC Uncertain 2_206874339_G->A 2 206874339 206874339 G A snp 784.77 0/1 99 54 20 34 0.63 exonic rs817991 INO80D AU synonymous SNV NM_017759 exon9 c.C1722T p.P574P 0.38758 0.502 0.306066 0.3868 0.4756 Uncertain 2_206884596_T->- 2 206884596 206884596 T - indel 1130.73 0/1 99 76 19 57 0.75 intronic rs11366043 INO80D AU NM_017759 exon5 c.15478+27delT 0.200679 0.1429 0.285213 0.3086 0.1591 Uncertain 2_206911228_G->A 2 206911228 206911228 G A snp 101.77 0/1 99 20 14 6 0.3 exonic rs2909111 INO80D AU nonsynonymous SNV NM_017759 exon5 c.C1073T p.A358V 0.390375 0.4792 0.318830 0.3865 0.4528 0.002 P -0.916 T 0.001 T 0.0 T Pathogenic 2_206921451_G->A 2 206921451 206921451 G A snp 4676.77 1/1 99 167 0 167 1.0 exonic rs818009 INO80D AU synonymous SNV NM_017759 exon4 c.C435T p.T145T 0.721845 0.745 0.716472 0.7663 0.7333 Uncertain 2_206921763_C->T 2 206921763 206921763 C T snp 299.77 0/1 99 20 10 10 0.5 intronic rs17220727 INO80D AU NM_017759 exon8 c.52576+96C>T 0.128195 0.1438 Uncertain 2_206927850_G->A 2 206927850 206927850 G A snp 264.77 0/1 99 12 4 8 0.67 intronic rs17286674 INO80D AU NM_017759 exon10 c.58783-24G>A 0.198682 0.1429 Uncertain 2_207024886_-->C 2 207024886 207024886 - C indel 1879.73 1/1 99 56 0 56 1.0 intronic rs113729178 EEF1B2 AU NM_001037663 exon2 c.80+103insC 0.9998 1 Uncertain 2_207027821_A->G 2 207027821 207027821 A G snp 152.77 0/1 94 8 3 5 0.63 downstream rs34451626 EEF1B2 AU 0.0814696 0.1796 Uncertain 2_207274912_C->G 2 207274912 207274912 C G snp 786.77 0/1 99 67 37 30 0.45 intergenic rs139521277 ZDBF2 AU 0.00339457 0.0119 Uncertain 2_207452152_T->- 2 207452152 207452152 T - indel 50.73 0/1 88 16 10 6 0.38 intronic rs3832131 ADAM23 AU NM_003812 exon19 c.143509+53delT 0.817692 0.7143 0.872456 0.8318 0.7428 Uncertain 2_207472573_A->G 2 207472573 207472573 A G snp 106.77 0/1 99 14 9 5 0.36 intronic rs1991537 ADAM23 AU NM_003812 exon25 c.166043-2060A>G 0.391174 0.4613 Uncertain 2_207472606_-->T 2 207472606 207472606 - T indel 206.73 0/1 99 30 18 12 0.4 intronic rs398105231 ADAM23 AU NM_003812 exon25 c.166043-2027insT 0.565096 0.5208 Uncertain 2_207472683_-->TA 2 207472683 207472683 - TA indel 802.73 0/1 99 52 33 19 0.37 intronic rs10626869 ADAM23 AU NM_003812 exon25 c.166043-1950insTA 0.82508 0.7302 0.7607 0.8258 Uncertain 2_207516342_G->A 2 207516342 207516342 G A snp 54.74 1/1 6 2 0 2 1.0 downstream rs769537755 DYTN AU Uncertain 2_207527657_T->A 2 207527657 207527657 T A snp 2312.77 0/1 99 235 134 101 0.43 exonic DYTN AU nonsynonymous SNV NM_001093730 exon11 c.A1603T p.M535L 0.32 T 1 N -0.953 T 0.0 T 0.001 T Pathogenic 2_207527840_G->T 2 207527840 207527840 G T snp 2059.77 0/1 99 183 102 81 0.44 exonic rs2115591 DYTN AU nonsynonymous SNV NM_001093730 exon11 c.C1420A p.Q474K 0.394968 0.1716 0.429000 0.3638 0.1730 1 T 0.0 P -0.956 T 0.0 T 0.0 T Pathogenic 2_207559649_A->G 2 207559649 207559649 A G snp 80.77 0/1 99 20 15 5 0.25 intronic rs199739954 DYTN AU NM_001093730 exon5 c.43060+48A>G 0.0068 0.0193 Uncertain 2_207564996_G->A 2 207564996 207564996 G A snp 571.77 0/1 99 46 22 24 0.52 intronic rs16838601 DYTN AU NM_001093730 exon7 c.48399+56G>A 0.13738 0.2222 0.070521 Uncertain 2_207569715_T->C 2 207569715 207569715 T C snp 1820.77 0/1 99 175 96 79 0.45 intronic rs16838626 DYTN AU NM_001093730 exon8 c.53126+48T>C 0.340855 0.4315 0.299801 0.3249 0.4418 Uncertain 2_207569803_A->C 2 207569803 207569803 A C snp 488.77 0/1 99 26 11 15 0.58 intronic rs16838630 DYTN AU NM_001093730 exon8 c.53126+136A>C 0.341853 0.4315 Uncertain 2_207570705_A->G 2 207570705 207570705 A G snp 539.77 0/1 99 39 17 22 0.56 intronic rs16838632 DYTN AU NM_001093730 exon9 c.54056+108A>G 0.304912 0.4425 Uncertain 2_207572341_T->G 2 207572341 207572341 T G snp 302.77 0/1 99 27 14 13 0.48 intronic rs16838641 DYTN AU NM_001093730 exon10 c.55686+114T>G 0.321486 0.4405 Uncertain 2_207572396_C->A 2 207572396 207572396 C A snp 96.28 1/1 9 3 0 3 1.0 intronic rs10490747 DYTN AU NM_001093730 exon10 c.55686+169C>A 0.360224 0.4405 Uncertain 2_207583215_C->T 2 207583215 207583215 C T snp 690.77 1/1 51 20 0 20 1.0 upstream rs1001110 DYTN AU 0.770966 0.9643 Uncertain 2_207603234_T->G 2 207603234 207603234 T G snp 1682.77 1/1 99 67 0 67 1.0 exonic rs2287631 MDH1B AU nonsynonymous SNV NM_001039845 exon12 c.A1530C p.E510D 0.417732 0.5347 0.269391 0.2696 0.5502 1 T 0.000 P -0.929 T 0.0 T 0.0 T Pathogenic 2_207603474_C->T 2 207603474 207603474 C T snp 559.77 1/1 42 15 0 15 1.0 intronic rs4675634 MDH1B AU NM_001039845 exon1 c.29+239C>T 0.209465 0.4752 Uncertain 2_207604130_T->C 2 207604130 207604130 T C snp 339.78 1/1 27 11 0 11 1.0 intronic rs6722033 MDH1B AU NM_001039845 exon2 c.1110-186T>C 0.416933 0.5347 Uncertain 2_207605610_A->C 2 207605610 207605610 A C snp 600.77 1/1 45 16 0 16 1.0 intronic rs10173497 MDH1B AU NM_001039845 exon3 c.2571-167A>C 0.409145 0.5347 Uncertain 2_207605733_C->T 2 207605733 207605733 C T snp 3097.77 1/1 99 106 0 106 1.0 intronic rs10197325 MDH1B AU NM_001039845 exon3 c.2571-44C>T 0.417133 0.5347 0.267302 0.2647 0.5499 Uncertain 2_207605882_A->G 2 207605882 207605882 A G snp 3473.77 1/1 99 122 0 122 1.0 intronic rs10173707 MDH1B AU NM_001039845 exon3 c.2622+54A>G 0.416933 0.5357 0.260307 Uncertain 2_207605976_T->C 2 207605976 207605976 T C snp 2029.77 1/1 99 74 0 74 1.0 intronic rs10209871 MDH1B AU NM_001039845 exon3 c.2622+148T>C 0.417133 0.5347 0.3302 0.5861 Uncertain 2_207606094_A->G 2 207606094 207606094 A G snp 59.74 1/1 6 3 0 3 1.0 intronic rs4673362 MDH1B AU NM_001039845 exon3 c.2622+266A>G 0.417133 0.5347 0.3896 0.6458 0.39 T 0.000 P -0.916 T Uncertain 2_207610047_C->T 2 207610047 207610047 C T snp 2176.77 1/1 99 83 0 83 1.0 intronic rs4675635 MDH1B AU NM_001039845 exon4 c.7139-298C>T 0.312899 0.5466 0.2698 0.5933 Uncertain 2_207610909_A->C 2 207610909 207610909 A C snp 136.03 1/1 12 4 0 4 1.0 intronic rs7591076 MDH1B AU NM_001039845 exon5 c.7804-101A>C 0.419329 0.5466 Uncertain 2_207611230_T->G 2 207611230 207611230 T G snp 2664.77 1/1 99 84 0 84 1.0 intronic rs2302922 MDH1B AU NM_001039845 exon5 c.7944+80T>G 0.430312 0.5942 Uncertain 2_207611257_G->T 2 207611257 207611257 G T snp 1508.77 1/1 99 46 0 46 1.0 intronic rs2302921 MDH1B AU NM_001039845 exon5 c.7944+107G>T 0.270168 0.4812 Uncertain 2_207621759_A->G 2 207621759 207621759 A G snp 2962.77 1/1 99 99 0 99 1.0 exonic rs1990849 MDH1B AU synonymous SNV NM_001039845 exon4 c.T276C p.Y92Y 1 1 0.999846 1.0000 1 Uncertain 2_207625567_T->C 2 207625567 207625567 T C snp 1394.77 1/1 68 51 1 50 0.98 intronic rs1862087 MDH1B AU NM_001039845 exon11 c.22418-57T>C 0.392772 0.7024 Uncertain 2_207629795_T->A 2 207629795 207629795 T A snp 1455.77 1/1 99 43 0 43 1.0 intronic rs16838834 MDH1B AU NM_001039845 exon12 c.26767-178T>A 0.38758 0.7044 Uncertain 2_207629821_-->GCAA 2 207629821 207629821 - GCAA indel 4873.73 1/1 99 68 0 68 1.0 intronic rs28365798 MDH1B AU NM_001039845 exon12 c.26767-152insGCAA 0.400559 0.7044 Uncertain 2_207629846_A->T 2 207629846 207629846 A T snp 3200.06 1/1 99 105 0 105 1.0 intronic rs28365797 MDH1B AU NM_001039845 exon12 c.26767-127A>T 0.400559 0.7044 Uncertain 2_207629904_G->A 2 207629904 207629904 G A snp 6855.77 1/1 99 250 0 250 1.0 intronic rs3828294 MDH1B AU NM_001039845 exon12 c.26767-69G>A 0.570288 0.756 0.384363 Uncertain 2_207647981_C->T 2 207647981 207647981 C T snp 467.77 1/1 36 15 0 15 1.0 ncRNA_exonic rs2241347 MIR3130-1 AU 0.42512 0.7054 0.2826 0.6406 Uncertain 2_207820319_A->G 2 207820319 207820319 A G snp 692.77 0/1 99 76 47 29 0.38 intronic rs6719240 CPO AU NM_173077 exon3 c.15965+31A>G 0.0978435 0.0883 0.071967 0.0526 0.0797 Uncertain 2_207908875_T->G 2 207908875 207908875 T G snp 179.9 1/1 15 7 0 7 1.0 intergenic rs1468982 CPO AU 0.067492 0.1012 Uncertain 2_207911058_G->A 2 207911058 207911058 G A snp 41.74 1/1 6 2 0 2 1.0 intergenic rs6737558 CPO AU Uncertain 2_207911103_G->A 2 207911103 207911103 G A snp 65.77 0/1 94 14 11 3 0.21 intergenic rs11675905 CPO AU Uncertain 2_207911421_C->T 2 207911421 207911421 C T snp 56.74 1/1 6 2 0 2 1.0 intergenic rs7587226 CPO AU 0.687101 0.4683 Uncertain 2_207946141_A->G 2 207946141 207946141 A G snp 4024.77 1/1 99 146 0 146 1.0 intronic rs2287507 KLF7 AU NM_003709 exon1 c.52+153A>G 0.436502 0.1687 Uncertain 2_207946164_T->C 2 207946164 207946164 T C snp 2933.77 1/1 99 100 0 100 1.0 intronic rs2287506 KLF7 AU NM_003709 exon1 c.52+176T>C 0.441693 0.1687 Uncertain 2_207953406_T->G 2 207953406 207953406 T G snp 3198.81 1/1 99 99 0 99 1.0 intronic rs2302870 KLF7 AU NM_003709 exon2 c.7369+101T>G 0.0632987 0.1062 ID=CS052965;DIS=Diabetes, type 2, association with;TAG=DP;PUB=15937668 DP Uncertain 2_207974818_C->T 2 207974818 207974818 C T snp 4553.77 1/1 99 166 0 166 1.0 intronic rs2244923 KLF7 AU NM_003709 exon3 c.42561-13679C>T 0.694489 0.5079 0.7816 0.4848 Uncertain 2_207974875_A->G 2 207974875 207974875 A G snp 2637.77 1/1 99 88 0 88 1.0 intronic rs2244918 KLF7 AU NM_003709 exon3 c.42561-13622A>G 0.417133 0.4831 Uncertain 2_207988613_C->T 2 207988613 207988613 C T snp 893.77 1/1 66 25 0 25 1.0 exonic rs2700166 KLF7 AU synonymous SNV NM_003709 exon2 c.G618A p.L206L 0.957468 1 0.958558 0.9882 0.9999 Uncertain 2_207998800_C->T 2 207998800 207998800 C T snp 1409.77 0/1 99 108 48 60 0.56 intronic rs2284934 KLF7 AU NM_001270944 exon4 c.52854+10C>T 0.648962 0.6587 0.6714 0.6364 Uncertain 2_207999021_G->C 2 207999021 207999021 G C snp 163.77 0/1 99 15 7 8 0.53 intronic rs2284933 KLF7 AU NM_001270944 exon4 c.52925+160G>C 0.48762 0.6052 Uncertain 2_208031696_CTT->- 2 208031696 208031698 CTT - indel 246.87 1/1 15 5 0 5 1.0 upstream;downstream rs67974250 KLF7;MIR7845 UN Uncertain 2_208031724_G->C 2 208031724 208031724 G C snp 279.77 0/1 54 11 2 9 0.82 upstream;downstream rs2269070 KLF7;MIR7845 UN 0.135383 0.1726 Uncertain 2_208031796_C->G 2 208031796 208031796 C G snp 1961.77 1/1 99 62 0 62 1.0 downstream rs2037893 MIR7845 AU 0.642772 0.8998 Uncertain 2_208031992_T->A 2 208031992 208031992 T A snp 3489.77 1/1 99 125 0 125 1.0 downstream rs1269424 MIR7845 AU 0.97504 1 Uncertain 2_208447642_A->T 2 208447642 208447642 A T snp 359.78 1/1 27 13 0 13 1.0 intronic rs12478868 CREB1 AU NM_134442 exon8 c.22020+5263A>T 0.780551 0.9683 0.6289 0.7778 Uncertain 2_208477852_G->A 2 208477852 208477852 G A snp 8178.77 1/1 99 250 0 250 1.0 exonic rs2551949 METTL21A AU nonsynonymous SNV NM_001127395 exon4 c.C575T p.T192I 0.904153 0.998 0.834307 0.8598 0.9998 0.13 T 0.386 P -0.995 T 0.047 T 0.02 T Pathogenic 2_208477956_C->T 2 208477956 208477956 C T snp 6864.77 1/1 99 237 0 237 1.0 exonic rs2709416 METTL21A AU synonymous SNV NM_001127395 exon4 c.G471A p.Q157Q 0.904153 0.998 0.834461 0.8597 0.9998 Uncertain 2_208478055_A->G 2 208478055 208478055 A G snp 2778.77 0/1 99 169 67 102 0.6 exonic rs17520056 METTL21A AU synonymous SNV NM_001127395 exon4 c.T372C p.T124T 0.347644 0.372 0.293941 0.3522 0.3561 Uncertain 2_208591702_A->G 2 208591702 208591702 A G snp 298.77 0/1 99 27 13 14 0.52 intronic rs2551957 CCNYL1 AU NM_152523 exon4 c.14770+102A>G 0.266973 0.3968 Uncertain 2_208605492_G->T 2 208605492 208605492 G T snp 82.77 0/1 99 12 7 5 0.42 intronic rs2551963 CCNYL1 AU NM_152523 exon7 c.28600+62G>T 0.232029 0.3968 0.114035 Uncertain 2_208605594_T->C 2 208605594 208605594 T C snp 56.74 1/1 6 2 0 2 1.0 intronic rs2663879 CCNYL1 AU NM_152523 exon7 c.28600+164T>C 0.247204 0.3968 Uncertain 2_208626207_A->G 2 208626207 208626207 A G snp 43.77 0/1 64 4 2 2 0.5 intergenic rs13388544 CCNYL1 AU 0.306709 0.4157 Uncertain 2_208632093_G->A 2 208632093 208632093 G A snp 2463.77 0/1 99 215 103 112 0.52 exonic rs3731567 FZD5 AU synonymous SNV NM_003468 exon2 c.C1371T p.Y457Y 0.0345447 0.1111 0.005410 0.0241 0.1134 Uncertain 2_208633413_T->C 2 208633413 208633413 T C snp 3578.77 1/1 99 126 0 126 1.0 exonic rs4675711 FZD5 AU synonymous SNV NM_003468 exon2 c.A51G p.L17L 0.991414 1 0.991487 0.9977 1 Uncertain 2_208693261_C->G 2 208693261 208693261 C G snp 1521.77 0/1 99 157 88 69 0.44 intronic rs720632 PLEKHM3 AU NM_001080475 exon1 c.178+41C>G 0.624201 0.4494 0.691047 0.6202 0.4396 Uncertain 2_208693307_T->C 2 208693307 208693307 T C snp 1094.77 0/1 99 108 59 49 0.45 intronic rs720631 PLEKHM3 AU NM_001080475 exon1 c.178+87T>C 0.63099 0.4524 Uncertain 2_208717440_A->G 2 208717440 208717440 A G snp 472.77 0/1 99 49 24 25 0.51 intronic rs10932211 PLEKHM3 AU NM_001080475 exon2 c.32786-8388A>G 0.588858 0.373 Uncertain 2_208811097_C->T 2 208811097 208811097 C T snp 1234.77 0/1 99 157 101 56 0.36 exonic rs10932215 PLEKHM3 AU synonymous SNV NM_001080475 exon4 c.G1686A p.K562K 0.543131 0.4038 0.648253 0.5626 0.3890 1.000 P -0.965 T Likely benign 2_208841964_A->G 2 208841964 208841964 A G snp 2213.77 0/1 99 164 74 90 0.55 exonic rs4441448 PLEKHM3 AU synonymous SNV NM_001080475 exon3 c.T957C p.N319N 0.569688 0.4702 0.679853 0.6571 0.4489 0.0 P Uncertain 2_208842153_C->T 2 208842153 208842153 C T snp 3160.77 0/1 99 238 109 129 0.54 exonic rs117434862 PLEKHM3 AU synonymous SNV NM_001080475 exon3 c.G768A p.T256T 0.00159744 0.0069 0.000162 0.0012 0.0162 1 D -0.789 T Likely benign 2_208986385_A->G 2 208986385 208986385 A G snp 984.77 0/1 99 93 52 41 0.44 ncRNA_intronic rs2305429 LOC100507443 AU 0.811701 0.6141 0.937183 0.8792 0.5747 Uncertain 2_208986637_T->C 2 208986637 208986637 T C snp 1827.77 0/1 99 182 101 81 0.45 exonic rs2305430 CRYGD AD synonymous SNV NM_006891 exon3 c.A285G p.R95R 0.776757 0.6131 0.892434 0.8500 0.5756 Uncertain 2_208989037_A->G 2 208989037 208989037 A G snp 1700.77 0/1 99 134 60 74 0.55 exonic rs2242074 CRYGD AD synonymous SNV NM_006891 exon2 c.T51C p.Y17Y 0.644768 0.6319 0.574426 0.5969 0.6612 Uncertain 2_208994297_G->A 2 208994297 208994297 G A snp 1220.77 0/1 99 119 70 49 0.41 exonic rs184571576 CRYGC AD synonymous SNV NM_020989 exon2 c.C120T p.S40S 0.00499201 0.0228 0.0010 0.0127 Uncertain 2_209007559_T->G 2 209007559 209007559 T G snp 2039.77 1/1 99 72 0 72 1.0 exonic rs796287 CRYGB AD nonsynonymous SNV NM_005210 exon3 c.A331C p.I111L 0.644569 0.5952 0.715977 0.6885 0.5404 0.06 T 0.0 P -0.932 T 0.0 T 0.0 T Pathogenic 2_209028191_C->T 2 209028191 209028191 C T snp 2259.77 0/1 99 194 92 102 0.53 intronic rs796280 CRYGA AU NM_014617 exon2 c.2643+21C>T 0.294129 0.5258 0.173074 0.2499 0.5751 Uncertain 2_209030578_A->G 2 209030578 209030578 A G snp 722.77 1/1 54 24 0 24 1.0 intronic rs796281 C2orf80 AU NM_001099334 exon1 c.9+39A>G 0.305312 0.5169 0.187890 0.2499 0.5492 Uncertain 2_209033097_A->G 2 209033097 209033097 A G snp 450.77 1/1 33 20 0 20 1.0 intronic rs13414543 C2orf80 AU NM_001099334 exon1 c.9+2558A>G 0.398363 0.5575 0.2442 0.5345 Uncertain 2_209033173_A->G 2 209033173 209033173 A G snp 311.78 1/1 24 13 0 13 1.0 intronic rs7562540 C2orf80 AU NM_001099334 exon2 c.5138-2495A>G 0.848442 0.8591 0.8489 0.7941 Uncertain 2_209035485_T->G 2 209035485 209035485 T G snp 1386.77 1/1 99 40 0 40 1.0 intronic rs6435420 C2orf80 AU NM_001099334 exon2 c.5138-183T>G 0.866813 0.8581 Uncertain 2_209035658_C->T 2 209035658 209035658 C T snp 6607.77 1/1 99 250 0 250 1.0 intronic rs6748431 C2orf80 AU NM_001099334 exon2 c.5138-10C>T 0.983427 1 0.983744 0.9956 1 Uncertain 2_209035849_A->C 2 209035849 209035849 A C snp 1217.77 1/1 87 41 0 41 1.0 intronic rs4292037 C2orf80 AU NM_001099334 exon2 c.5257+62A>C 0.867013 0.8581 Uncertain 2_209036605_T->C 2 209036605 209036605 T C snp 3276.77 1/1 99 119 0 119 1.0 intronic rs10932244 C2orf80 AU NM_001099334 exon3 c.6181-106T>C 0.856829 0.8542 Uncertain 2_209036712_T->C 2 209036712 209036712 T C snp 4164.77 1/1 99 154 0 154 1.0 exonic rs10804166 C2orf80 AU nonsynonymous SNV NM_001099334 exon7 c.A454G p.S152G 0.856829 0.8542 0.890125 0.8895 0.8560 1.000 P -1.045 T 0.002 T 0.007 T Pathogenic 2_209036778_A->G 2 209036778 209036778 A G snp 2489.77 1/1 99 83 0 83 1.0 exonic rs6435421 C2orf80 AU nonsynonymous SNV NM_001099334 exon7 c.T388C p.C130R 0.983427 1 0.983535 0.9955 1 1 T 0.0 P -0.984 T 0.0 T 0.0 T Pathogenic 2_209045657_T->C 2 209045657 209045657 T C snp 935.77 1/1 69 26 0 26 1.0 intronic rs10208685 C2orf80 AU NM_001099334 exon4 c.15010+117T>C 0.561901 0.875 Uncertain 2_209045839_T->C 2 209045839 209045839 T C snp 427.77 1/1 33 11 0 11 1.0 intronic rs56342568 C2orf80 AU NM_001099334 exon5 c.15411-102T>C 0.398762 0.8482 Uncertain 2_209049840_C->T 2 209049840 209049840 C T snp 1859.77 1/1 99 79 0 79 1.0 intronic rs10804167 C2orf80 AU NM_001099334 exon7 c.19226+84C>T 0.660144 0.9692 Uncertain 2_209101906_A->- 2 209101906 209101906 A - indel 1428.73 1/1 75 61 3 58 0.95 intronic rs57383668 IDH1 AU NM_001282387 exon1 c.91+13delA 0.982628 0.999 0.9898 0.9928 Uncertain 2_209138946_C->T 2 209138946 209138946 C T snp 1475.77 1/1 99 40 0 40 1.0 intronic rs6705163 PIKFYVE AD NM_001178000 exon3 c.2214+489C>T 0.963658 0.998 Uncertain 2_209163556_C->T 2 209163556 209163556 C T snp 3443.77 1/1 99 119 0 119 1.0 intronic rs7569723 PIKFYVE AD NM_001178000 exon8 c.27260+53C>T 0.911542 0.9395 Uncertain 2_209165487_A->T 2 209165487 209165487 A T snp 86.28 1/1 9 3 0 3 1.0 intronic rs6755550 PIKFYVE AD NM_001178000 exon9 c.29417-173A>T 0.991813 1 Uncertain 2_209168853_C->T 2 209168853 209168853 C T snp 3204.83 1/1 99 114 0 114 1.0 intronic rs893256 PIKFYVE AD NM_001178000 exon11 c.32651-41C>T 0.910743 0.9395 0.921113 0.9597 0.9431 Uncertain 2_209176807_T->G 2 209176807 209176807 T G snp 303.78 1/1 24 8 0 8 1.0 intronic rs12624141 PIKFYVE AD NM_015040 exon13 c.40716-152T>G 0.983027 1 Uncertain 2_209180234_-->TTTG 2 209180234 209180234 - TTTG indel 431.77 1/1 21 17 0 17 1.0 intronic rs55976676 PIKFYVE AD NM_015040 exon15 c.43854+137insTTTG 0.911941 0.9395 Uncertain 2_209184980_G->A 2 209184980 209184980 G A snp 1028.77 1/1 72 43 0 43 1.0 exonic rs10932258 PIKFYVE AD nonsynonymous SNV NM_015040 exon17 c.G2087A p.S696N 0.991813 1 0.992151 0.9977 1 0.82 T 1.0 P -0.941 T 0.0 T 0.0 T Pathogenic 2_209184999_C->T 2 209184999 209184999 C T snp 984.77 1/1 69 43 0 43 1.0 exonic rs10932259 PIKFYVE AD synonymous SNV NM_015040 exon17 c.C2106T p.P702P 0.911542 0.9395 0.922135 0.9598 0.9429 Uncertain 2_209189912_A->G 2 209189912 209189912 A G snp 1248.77 1/1 93 32 0 32 1.0 intronic rs893255 PIKFYVE AD NM_015040 exon20 c.53750-81A>G 0.911342 0.9395 Uncertain 2_209190330_T->C 2 209190330 209190330 T C snp 5072.77 1/1 99 168 0 168 1.0 exonic rs2363468 PIKFYVE AD nonsynonymous SNV NM_015040 exon20 c.T2795C p.L932S 0.911741 0.9405 0.922420 0.9596 0.9430 0.78 T 1.000 P -0.956 T 0.0 T 0.0 T Pathogenic 2_209190519_A->T 2 209190519 209190519 A T snp 6350.77 1/1 99 231 0 231 1.0 exonic rs893254 PIKFYVE AD nonsynonymous SNV NM_015040 exon20 c.A2984T p.Q995L 0.911542 0.9395 0.922344 0.9597 0.9426 0.3 T 1.000 P -1.006 T 0.011 T 0.014 T Pathogenic 2_209190528_C->G 2 209190528 209190528 C G snp 6129.77 1/1 99 229 0 229 1.0 exonic rs893253 PIKFYVE AD nonsynonymous SNV NM_015040 exon20 c.C2993G p.T998S 0.912141 0.9395 0.923112 0.9601 0.9423 0.81 T 0.0 P -0.997 T 0.039 T 0.01 T Pathogenic 2_209191082_C->A 2 209191082 209191082 C A snp 4019.77 1/1 99 142 0 142 1.0 exonic rs1529979 PIKFYVE AD nonsynonymous SNV NM_015040 exon20 c.C3547A p.Q1183K 0.911542 0.9395 0.922344 0.9596 0.9430 0.943 P -0.962 T 0.0 T 0.0 T Pathogenic 2_209191099_T->C 2 209191099 209191099 T C snp 3641.77 1/1 99 130 0 130 1.0 exonic rs1529978 PIKFYVE AD synonymous SNV NM_015040 exon20 c.T3564C p.N1188N 0.996006 1 0.994618 0.9985 1 Uncertain 2_209193185_C->A 2 209193185 209193185 C A snp 94.28 1/1 9 3 0 3 1.0 intronic rs976247 PIKFYVE AD NM_015040 exon21 c.56761+181C>A 0.911542 0.9395 Uncertain 2_209194696_G->C 2 209194696 209194696 G C snp 978.77 1/1 72 33 0 33 1.0 intronic rs1437414 PIKFYVE AD NM_015040 exon22 c.58394+59G>C 0.912141 0.9395 0.928477 Uncertain 2_209195099_G->A 2 209195099 209195099 G A snp 832.77 1/1 63 21 0 21 1.0 intronic rs1866045 PIKFYVE AD NM_015040 exon23 c.59003-147G>A 0.911542 0.9395 Uncertain 2_209195133_T->C 2 209195133 209195133 T C snp 1770.77 1/1 99 52 0 52 1.0 intronic rs12694109 PIKFYVE AD NM_015040 exon23 c.59003-113T>C 0.835663 0.9395 Uncertain 2_209199945_A->G 2 209199945 209199945 A G snp 1614.77 1/1 99 46 0 46 1.0 intronic rs2363469 PIKFYVE AD NM_015040 exon25 c.63786-84A>G 0.911542 0.9395 Uncertain 2_209201054_T->C 2 209201054 209201054 T C snp 429.77 1/1 33 11 0 11 1.0 intronic rs6744236 PIKFYVE AD NM_015040 exon27 c.64681+130T>C 0.982029 1 Uncertain 2_209201739_T->C 2 209201739 209201739 T C snp 99.28 1/1 9 3 0 3 1.0 intronic rs7596571 PIKFYVE AD NM_015040 exon28 c.65409+87T>C 0.983027 1 Uncertain 2_209203122_C->G 2 209203122 209203122 C G snp 86.28 1/1 9 3 0 3 1.0 intronic rs4675756 PIKFYVE AD NM_015040 exon29 c.66988-109C>G 0.991613 1 Uncertain 2_209209827_G->A 2 209209827 209209827 G A snp 3935.77 1/1 99 149 0 149 1.0 intronic rs2304544 PIKFYVE AD NM_015040 exon33 c.73591-7G>A 0.910942 0.9395 0.921652 0.9595 0.9431 Uncertain 2_209209997_C->T 2 209209997 209209997 C T snp 1113.77 1/1 81 33 0 33 1.0 intronic rs2043718 PIKFYVE AD NM_015040 exon33 c.73675+79C>T 0.991813 1 Uncertain 2_209212707_G->A 2 209212707 209212707 G A snp 1930.77 1/1 99 73 0 73 1.0 exonic rs2304545 PIKFYVE AD synonymous SNV NM_015040 exon35 c.G5334A p.T1778T 0.716054 0.9117 0.683069 0.8099 0.9055 Uncertain 2_209214574_G->A 2 209214574 209214574 G A snp 56.74 1/1 6 2 0 2 1.0 intronic rs1561240 PIKFYVE AD NM_015040 exon36 c.78504-173G>A 0.911342 0.9395 Uncertain 2_209214770_A->G 2 209214770 209214770 A G snp 3910.77 1/1 99 146 0 146 1.0 exonic rs2118297 PIKFYVE AD synonymous SNV NM_015040 exon36 c.A5397G p.T1799T 0.911142 0.9395 0.921793 0.9596 0.9433 Uncertain 2_209215448_A->G 2 209215448 209215448 A G snp 396.77 1/1 30 12 0 12 1.0 intronic rs994696 PIKFYVE AD NM_015040 exon37 c.79251-46A>G 0.911142 0.9395 0.922178 0.9599 0.9434 Uncertain 2_209215586_A->G 2 209215586 209215586 A G snp 1131.77 1/1 81 45 0 45 1.0 exonic rs994697 PIKFYVE AD synonymous SNV NM_015040 exon37 c.A5526G p.E1842E 0.911142 0.9395 0.921882 0.9596 0.9435 Uncertain 2_209219190_A->G 2 209219190 209219190 A G snp 1624.77 1/1 99 52 0 52 1.0 intronic rs6435453 PIKFYVE AD NM_015040 exon41 c.83051-104A>G 0.911741 0.9395 Uncertain 2_209220157_G->T 2 209220157 209220157 G T snp 923.77 1/1 69 27 0 27 1.0 UTR3 rs10208191 PIKFYVE AD 0.911142 0.9395 Uncertain 2_209224875_A->- 2 209224875 209224875 A - indel 2254.73 1/1 99 54 0 54 1.0 intergenic rs11357589 PIKFYVE AD 0.910543 0.9395 0.9589 0.9495 Uncertain 2_209293168_C->T 2 209293168 209293168 C T snp 899.77 1/1 66 26 0 26 1.0 intronic rs962595 PTH2R AU NM_005048 exon2 c.21260+140C>T 0.914936 0.9454 Uncertain 2_209315573_G->A 2 209315573 209315573 G A snp 2900.77 1/1 99 101 0 101 1.0 intronic rs1370371 PTH2R AU NM_005048 exon8 c.43766+39G>A 0.572684 0.8671 0.504844 0.6119 0.8788 Uncertain 2_210517785_C->T 2 210517785 210517785 C T snp 1691.77 1/1 99 48 0 48 1.0 intronic rs2254169 MAP2 AU 0.999401 0.997 Uncertain 2_210594540_A->G 2 210594540 210594540 A G snp 6701.77 1/1 99 239 0 239 1.0 intronic rs4673486 MAP2 AU NM_001039538 exon14 c.76679-33A>G 0.740016 0.8016 0.753114 0.8447 0.7714 Uncertain 2_210594717_-->T 2 210594717 210594717 - T indel 2340.73 1/1 99 83 0 83 1.0 intronic rs11389149 MAP2 AU NM_001039538 exon14 c.76792+31insT 0.743011 0.8006 0.8538 0.7759 Uncertain 2_210594768_T->C 2 210594768 210594768 T C snp 655.77 1/1 51 18 0 18 1.0 intronic rs7594601 MAP2 AU NM_001039538 exon14 c.76792+82T>C 0.808506 0.8016 Uncertain 2_210659434_A->G 2 210659434 210659434 A G snp 919.77 1/1 66 34 0 34 1.0 intronic rs7603924 UNC80 AR NM_032504 exon7 c.21787+851A>G 0.49361 0.6081 Uncertain 2_210678691_T->G 2 210678691 210678691 T G snp 1519.77 1/1 99 50 0 50 1.0 intronic rs2159745 UNC80 AR NM_032504 exon8 c.41769+126T>G 0.985224 1 Uncertain 2_210680197_C->T 2 210680197 210680197 C T snp 582.77 1/1 45 18 0 18 1.0 intronic rs75528412 UNC80 AR NM_032504 exon9 c.43319+82C>T 0.0996406 0.2381 Uncertain 2_210684971_G->A 2 210684971 210684971 G A snp 606.77 1/1 45 18 0 18 1.0 intronic rs10490023 UNC80 AR NM_032504 exon13 c.48238-63G>A 0.13778 0.2391 Uncertain 2_210685100_G->A 2 210685100 210685100 G A snp 3543.77 1/1 99 119 0 119 1.0 exonic rs13432185 UNC80 AR synonymous SNV NM_032504 exon13 c.G2028A p.A676A 0.120607 0.2381 0.053438 0.0354 0.2197 ID=COSM149054;OCCURENCE=1(large_intestine),1(stomach) Uncertain 2_210685367_C->T 2 210685367 210685367 C T snp 851.77 1/1 63 32 0 32 1.0 exonic rs13432245 UNC80 AR synonymous SNV NM_032504 exon13 c.C2295T p.G765G 0.125998 0.2381 0.056943 0.0444 0.2349 Uncertain 2_210690624_G->T 2 210690624 210690624 G T snp 2292.77 1/1 99 81 0 81 1.0 intronic rs7581661 UNC80 AR NM_032504 exon14 c.53834-6G>T 0.137181 0.2391 0.084100 0.0630 0.2237 Uncertain 2_210745681_C->A 2 210745681 210745681 C A snp 6018.77 1/1 99 228 1 227 1.0 splicing rs2370838 UNC80 AR NM_032504 exon25 c.108888-3C>A 0.980631 1 0.982041 0.9777 1 Pathogenic 2_210786137_G->A 2 210786137 210786137 G A snp 1237.77 1/1 90 42 0 42 1.0 intronic rs9288415 UNC80 AR NM_032504 exon33 c.149427-86G>A 0.998802 1 Uncertain 2_210843383_G->A 2 210843383 210843383 G A snp 4553.77 1/1 99 167 1 166 0.99 exonic rs2075117 UNC80 AR synonymous SNV NM_032504 exon58 c.G8871A p.Q2957Q 0.645767 0.6111 0.627464 0.6556 0.6205 Uncertain 2_210846867_A->G 2 210846867 210846867 A G snp 714.77 0/1 99 48 21 27 0.56 intronic rs2723222 UNC80 AR NM_032504 exon59 c.210106-35A>G 0.455871 0.4633 0.445466 0.5210 0.4577 Uncertain 2_210880893_C->T 2 210880893 210880893 C T snp 1776.77 0/1 99 203 120 83 0.41 intronic rs7570090 RPE AU NM_001278283 exon5 c.229-34C>T 0.40655 0.5129 0.431021 0.4336 0.5284 Uncertain 2_210882171_A->T 2 210882171 210882171 A T snp 439.77 0/1 99 28 14 14 0.5 intronic rs2075116 RPE AU NM_199229 exon5 c.14811-25A>T 0.38139 0.4752 0.346148 0.4496 0.4657 Uncertain 2_210882456_G->T 2 210882456 210882456 G T snp 328.78 1/1 27 9 0 9 1.0 intronic rs2243769 RPE AU NM_199229 exon5 c.14898+173G>T 0.975839 0.999 Uncertain 2_210882677_C->T 2 210882677 210882677 C T snp 141.03 1/1 12 5 0 5 1.0 intronic rs2723213 RPE AU NM_001278289 exon6 c.15491-199C>T 0.998403 1 Uncertain 2_210889759_A->G 2 210889759 210889759 A G snp 735.77 0/1 99 46 19 27 0.59 intronic rs6435550 KANSL1L AU NM_152519 exon3 c.2155-68A>G 0.418331 0.5357 Uncertain 2_210994064_T->C 2 210994064 210994064 T C snp 352.77 0/1 81 14 3 11 0.79 intronic KANSL1L AU NM_152519 exon13 c.106224+168T>C Uncertain 2_211069438_G->A 2 211069438 211069438 G A snp 3904.77 1/1 99 139 0 139 1.0 intronic rs263677 ACADL AU NM_001608 exon5 c.15722+32G>A 0.975639 1 0.981003 0.9943 0.9999 Uncertain 2_211163063_-->ACACAC 2 211163063 211163063 - ACACAC indel 752.73 0/1 99 36 24 12 0.33 intronic rs112894708 MYL1 AU NM_079422 exon5 c.7374-80insACACAC 0.263179 0.3234 Uncertain 2_211167132_A->T 2 211167132 211167132 A T snp 2604.77 0/1 99 228 111 117 0.51 intronic rs2292300 MYL1 AU NM_079420 exon6 c.11442-79A>T 0.436701 0.4683 0.382173 Uncertain 2_211168181_-->C 2 211168181 211168181 - C indel 526.73 0/1 99 24 10 14 0.58 intronic rs35179660 MYL1 AU NM_079422 exon7 c.12496-84insC 0.4373 0.4683 0.385144 Uncertain 2_211168346_A->C 2 211168346 211168346 A C snp 907.77 0/1 99 65 28 37 0.57 intronic rs12469767 MYL1 AU NM_079422 exon7 c.12570+7A>C 0.541733 0.4692 0.507665 Uncertain 2_211319824_T->C 2 211319824 211319824 T C snp 1366.77 1/1 99 54 0 54 1.0 ncRNA_intronic rs2287432 LANCL1-AS1 AU 0.71226 0.8522 0.621790 0.6203 0.8200 Uncertain 2_211320041_-->AA 2 211320041 211320041 - AA indel 329.73 1/1 33 30 0 30 1.0 splicing rs10691255 LANCL1 AU NM_001136575 exon7 c.20828+3insAA 0.505591 0.5942 0.4595 0.5626 Pathogenic 2_211341156_C->G 2 211341156 211341156 C G snp 435.77 1/1 33 14 0 14 1.0 intronic rs2287418 LANCL1 AU NM_001136575 exon9 c.41926+20C>G 0.48103 0.629 0.419499 0.5065 0.6298 Uncertain 2_211341204_-->C 2 211341204 211341204 - C indel 174.87 1/1 15 5 0 5 1.0 intronic rs397722467 LANCL1 AU NM_001136575 exon9 c.41926+68insC 1 1 Uncertain 2_211342502_G->A 2 211342502 211342502 G A snp 3635.77 1/1 99 133 1 132 0.99 intergenic rs17552879 LANCL1 AU 0.480831 0.629 0.427573 0.5066 0.6279 CLINSIG=non-pathogenic;CLNDBN=not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000124595.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Uncertain 2_211420976_G->A 2 211420976 211420976 G A snp 2169.77 0/1 99 173 83 90 0.52 upstream rs4142155 CPS1 AR,AU 0.10004 0.1974 Uncertain 2_211421452_-->TCT 2 211421452 211421452 - TCT indel 4122.73 0/1 99 180 102 78 0.43 UTR5 rs3835047 CPS1 AR,AU 0.477037 0.3492 0.461655 0.4350 0.3653 Uncertain 2_211456637_A->G 2 211456637 211456637 A G snp 908.77 0/1 99 129 83 46 0.36 exonic rs1047883 CPS1 AR,AU nonsynonymous SNV NM_001875 exon10 c.A1030G p.T344A 0.591727 0.5697 0.5466 0.04 T 1.000 P -0.903 T 0.001 T 0.006 T CLINSIG=probable-non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=no_assertion_criteria_provided|criteria_provided\x2c_single_submitter;CLNACC=RCV000116829.2|RCV000124588.1;CLNDSDB=MedGen|MedGen;CLNDSDBID=CN169374|CN221809 Pathogenic 2_211456639_C->T 2 211456639 211456639 C T snp 915.77 0/1 99 129 85 44 0.34 exonic rs2229589 CPS1 AR,AU synonymous SNV NM_001875 exon10 c.C1032T p.T344T 0.591254 0.5585 0.597570 0.5736 0.5466 CLINSIG=probable-non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=no_assertion_criteria_provided|criteria_provided\x2c_single_submitter;CLNACC=RCV000116830.2|RCV000124589.1;CLNDSDB=MedGen|MedGen;CLNDSDBID=CN169374|CN221809 Uncertain 2_211470086_T->C 2 211470086 211470086 T C snp 778.77 0/1 99 53 25 28 0.53 intronic rs2277909 CPS1 AR,AU NM_001122633 exon18 c.127483+116T>C 0.172923 0.3284 Uncertain 2_211513118_C->T 2 211513118 211513118 C T snp 1281.77 1/1 93 41 0 41 1.0 intronic rs4673540 CPS1 AR,AU NM_001122633 exon28 c.170709-78C>T 1 1 Uncertain 2_211514995_G->T 2 211514995 211514995 G T snp 1008.77 0/1 99 82 40 42 0.51 intronic rs34449727 CPS1 AR,AU NM_001122633 exon29 c.172599-91G>T 0.223842 0.1508 Uncertain 2_211521228_T->- 2 211521228 211521228 T - indel 325.73 0/1 73 39 12 27 0.69 intronic rs575213772 CPS1 AR,AU NM_001122633 exon31 c.178761-20delT 0.833067 0.8323 0.4492 0.4093 Uncertain 2_211527828_T->- 2 211527828 211527828 T - indel 1299.73 1/1 90 58 3 55 0.95 intronic rs397703682 CPS1 AR,AU NM_001122633 exon34 c.185359-18delT 0.77476 0.8442 0.7547 0.8082 Uncertain 2_211532800_-->TG 2 211532800 211532800 - TG indel 185.79 0/1 19 7 1 6 0.86 intronic rs113243191 CPS1 AR,AU NM_001122633 exon35 c.190422-109insTG Uncertain 2_211533070_A->G 2 211533070 211533070 A G snp 1453.77 1/1 99 52 0 52 1.0 intronic rs10932347 CPS1 AR,AU NM_001122633 exon35 c.190521+62A>G 0.951278 1 Uncertain 2_211540507_C->A 2 211540507 211540507 C A snp 1472.77 0/1 99 147 79 68 0.46 exonic rs1047891 CPS1 AR,AU nonsynonymous SNV NM_001875 exon36 c.C4217A p.T1406N 0.288538 0.1389 0.329156 0.3034 0.1674 0.25 T 0.085 P -1.073 T 0.009 T 0.025 T CLINSIG=probable-non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=no_assertion_criteria_provided|criteria_provided\x2c_single_submitter;CLNACC=RCV000116832.2|RCV000124594.1;CLNDSDB=MedGen|MedGen;CLNDSDBID=CN169374|CN221809 ID=CM109955;DIS=Hyperammonaemia, association with;TAG=DFP;PUB=20456087 DFP Pathogenic 2_212252809_G->A 2 212252809 212252809 G A snp 4463.77 1/1 99 151 0 151 1.0 intronic rs934607 ERBB4 AD NM_005235 exon3 c.4378+92G>A 0.68111 0.7073 Uncertain 2_212285103_T->C 2 212285103 212285103 T C snp 230.84 1/1 18 9 0 9 1.0 intronic rs2289086 ERBB4 AD NM_001042599 exon3 c.36826-62T>C 0.474441 0.4306 Uncertain 2_212285340_AAAG->- 2 212285340 212285343 AAAG - indel 927.73 0/1 99 45 23 22 0.49 splicing rs138150601 ERBB4 AD NM_001042599 exon3 c.36997+4_36997+7delAAAG 0.138379 0.0694 0.129834 0.0574 0.0808 Pathogenic 2_212286934_A->T 2 212286934 212286934 A T snp 673.77 0/1 99 27 8 19 0.7 intronic rs3791709 ERBB4 AD NM_001042599 exon4 c.38490+105A>T 0.301318 0.3433 Uncertain 2_212293044_C->T 2 212293044 212293044 C T snp 138.77 0/1 99 25 17 8 0.32 intronic rs4672613 ERBB4 AD NM_001042599 exon6 c.44793-88C>T 0.0385383 0.0734 Uncertain 2_212295875_C->T 2 212295875 212295875 C T snp 1729.77 1/1 99 53 0 53 1.0 intronic rs6710946 ERBB4 AD NM_001042599 exon7 c.47486+50C>T 0.79353 0.6954 0.782836 0.7335 0.6718 Uncertain 2_212488870_-->C 2 212488870 212488870 - C indel 1659.73 1/1 99 41 0 41 1.0 intronic rs76332141 ERBB4 AD NM_001042599 exon10 c.240430+101insC 0.852236 0.8056 Uncertain 2_212569983_G->A 2 212569983 212569983 G A snp 270.77 0/1 99 46 31 15 0.33 intronic rs6723705 ERBB4 AD NM_001042599 exon18 c.321703-59G>A 0.397764 0.1012 0.572492 Uncertain 2_212587321_G->A 2 212587321 212587321 G A snp 679.77 0/1 99 70 41 29 0.41 intronic rs13002712 ERBB4 AD NM_001042599 exon21 c.338920+62G>A 0.695687 0.4911 Uncertain 2_212812097_T->C 2 212812097 212812097 T C snp 110.77 0/1 99 8 4 4 0.5 intronic rs839541 ERBB4 AD NM_001042599 exon25 c.563815-57T>C 0.355032 0.371 Uncertain 2_213886454_A->T 2 213886454 213886454 A T snp 834.77 0/1 99 81 44 37 0.46 intronic rs2291241 IKZF2 AU NM_016260 exon3 c.14633-262A>T 0.742212 0.8105 0.7951 0.8197 Uncertain 2_213914343_C->T 2 213914343 213914343 C T snp 660.77 1/1 48 23 0 23 1.0 intronic rs2165444 IKZF2 AU NM_016260 exon4 c.42353-93C>T 0.989617 1 Uncertain 2_214012405_A->C 2 214012405 214012405 A C snp 6450.77 1/1 99 238 1 237 1.0 intronic rs6738070 IKZF2 AU NM_016260 exon6 c.140348-26A>C 0.934305 0.9742 0.927879 0.5957 0.5916 0.02 T 0.000 P -1.056 T Uncertain 2_214014933_CTT->- 2 214014933 214014935 CTT - indel 3034.73 0/1 99 114 51 63 0.55 UTR5 rs201270948 IKZF2 AU 0.0165735 0.0377 0.0208 0.0389 Uncertain 2_214142631_G->C 2 214142631 214142631 G C snp 518.77 0/1 99 43 17 26 0.6 exonic rs13000409 LOC100130451 AU stopgain NM_001242575 exon3 c.C245G p.S82X 0.491214 0.2996 0.6186 0.3868 Pathogenic 2_214228792_C->T 2 214228792 214228792 C T snp 754.77 1/1 54 27 0 27 1.0 intronic rs12469417 SPAG16 AU NM_024532 exon8 c.79592-7C>T 0.976038 1 0.972495 0.9920 1 Uncertain 2_214228959_G->A 2 214228959 214228959 G A snp 503.77 1/1 39 13 0 13 1.0 intronic rs4146048 SPAG16 AU NM_024532 exon8 c.79662+90G>A 0.976038 1 Uncertain 2_214233812_C->A 2 214233812 214233812 C A snp 777.77 1/1 57 32 0 32 1.0 intronic rs6752347 SPAG16 AU NM_024532 exon8 c.79662+4943C>A 0.975839 1 Uncertain 2_214261534_T->C 2 214261534 214261534 T C snp 305.77 0/1 99 17 7 10 0.59 intronic rs339815 SPAG16 AU NM_024532 exon9 c.90636+21691T>C 0.496206 0.3006 Uncertain 2_214727150_T->C 2 214727150 214727150 T C snp 1305.77 0/1 99 105 54 51 0.49 intronic rs2042790 SPAG16 AU NM_024532 exon11 c.578001-58T>C 0.384185 0.502 Uncertain 2_214727221_A->C 2 214727221 214727221 A C snp 1708.77 0/1 99 151 74 77 0.51 exonic rs2042791 SPAG16 AU nonsynonymous SNV NM_024532 exon11 c.A1083C p.Q361H 0.384185 0.501 0.327387 0.3904 0.4418 0.38 T 0.000 P -0.907 T 0.0 T 0.0 T Pathogenic 2_214727367_C->G 2 214727367 214727367 C G snp 637.77 0/1 99 61 35 26 0.43 intronic rs2042792 SPAG16 AU NM_024532 exon11 c.578145+15C>G 0.383786 0.5 0.326849 0.3890 0.4402 Uncertain 2_215013801_-->TGTA 2 215013801 215013801 - TGTA indel 454.9 0/1 14 11 2 9 0.82 intronic SPAG16 AU NM_024532 exon15 c.864656-62insTGTA Uncertain 2_215102929_T->A 2 215102929 215102929 T A snp 4676.77 1/1 99 167 0 167 1.0 intronic rs1912207 SPAG16 AU NM_024532 exon15 c.864783+88939T>A 1 1 1 1 Uncertain 2_215593492_C->A 2 215593492 215593492 C A snp 2861.77 0/1 99 247 122 125 0.51 exonic BARD1 AD stopgain NM_000465 exon11 c.G2242T p.E748X 0.07 T 1 D Pathogenic 2_215595765_C->G 2 215595765 215595765 C G snp 2889.77 1/1 99 106 0 106 1.0 intronic rs6435849 BARD1 AD NM_000465 exon2 c.1833+533C>G 1 1 Uncertain 2_215595861_-->A 2 215595861 215595861 - A indel 174.74 1/1 28 23 0 23 1.0 intronic rs34664471 BARD1 AD NM_000465 exon2 c.1833+629insA 0.859625 0.9157 Uncertain 2_215595872_G->A 2 215595872 215595872 G A snp 308.78 1/1 24 11 0 11 1.0 intronic rs10180486 BARD1 AD NM_000465 exon2 c.1833+640G>A 0.859625 0.9157 Uncertain 2_215610313_G->T 2 215610313 215610313 G T snp 883.77 1/1 66 22 0 22 1.0 intronic rs6730040 BARD1 AD NM_000465 exon4 c.17046-132G>T 0.520367 0.6081 Uncertain 2_215632256_A->G 2 215632256 215632256 A G snp 5272.77 1/1 99 204 1 203 1.0 exonic rs2070093 BARD1 AD synonymous SNV NM_000465 exon6 c.T1518C p.H506H 0.770567 0.9484 0.713824 0.8134 0.9539 CLINSIG=non-pathogenic;CLNDBN=Hereditary_cancer-predisposing_syndrome;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000162380.1;CLNDSDB=MedGen:SNOMED_CT;CLNDSDBID=C0027672:699346009 Uncertain 2_215645545_C->G 2 215645545 215645545 C G snp 2997.77 0/1 99 250 123 127 0.51 exonic rs2070096 BARD1 AD synonymous SNV NM_000465 exon4 c.G1053C p.T351T 0.190296 0.1815 0.203445 0.2051 0.1566 CLINSIG=non-pathogenic;CLNDBN=Hereditary_cancer-predisposing_syndrome;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000130815.2;CLNDSDB=MedGen:SNOMED_CT;CLNDSDBID=C0027672:699346009 Uncertain 2_215673937_C->T 2 215673937 215673937 C T snp 210.84 1/1 18 6 0 6 1.0 intronic rs13021937 BARD1 AD NM_000465 exon11 c.80736-198C>T 0.744808 0.7837 Uncertain 2_215674090_T->G 2 215674090 215674090 T G snp 5380.77 1/1 99 203 0 203 1.0 intronic rs35933323 BARD1 AD NM_000465 exon11 c.80736-45T>G 0.744808 0.7847 0.746960 0.7387 0.8214 Uncertain 2_215674323_C->G 2 215674323 215674323 C G snp 927.77 1/1 69 27 0 27 1.0 UTR5 rs1129804 BARD1 AD 0.744609 0.7817 0.770881 0.7072 0.7932 Uncertain 2_215674341_A->G 2 215674341 215674341 A G snp 562.77 1/1 42 18 0 18 1.0 UTR5 rs17489363 BARD1 AD 0.745008 0.7837 0.785181 0.6895 0.7895 Uncertain 2_215674371_C->T 2 215674371 215674371 C T snp 352.78 1/1 27 12 0 12 1.0 UTR5 rs34732883 BARD1 AD 0.658347 0.7827 Uncertain 2_215839570_C->T 2 215839570 215839570 C T snp 2307.77 0/1 99 191 95 96 0.5 exonic rs16853022 ABCA12 AR synonymous SNV NM_173076 exon35 c.G5400A p.T1800T 0.119609 0.0417 0.101645 0.0477 0.0382 Uncertain 2_215839748_G->A 2 215839748 215839748 G A snp 77.77 0/1 28 4 1 3 0.75 intronic rs7576757 ABCA12 AR NM_015657 exon19 c.42231+160G>A 0.444489 0.2946 Uncertain 2_215840414_C->A 2 215840414 215840414 C A snp 349.77 0/1 99 17 5 12 0.71 intronic rs17493319 ABCA12 AR NM_015657 exon20 c.43151-94C>A 0.445088 0.2976 Uncertain 2_215848034_T->C 2 215848034 215848034 T C snp 180.9 1/1 15 5 0 5 1.0 intronic rs7608150 ABCA12 AR NM_015657 exon25 c.51013-336T>C 1 1 Uncertain 2_215851246_A->G 2 215851246 215851246 A G snp 1856.77 1/1 99 59 0 59 1.0 intronic rs7559069 ABCA12 AR NM_015657 exon26 c.53908-19A>G 0.999002 1 0.998847 0.9997 1 Uncertain 2_215851303_A->G 2 215851303 215851303 A G snp 1641.77 0/1 99 137 65 72 0.53 exonic rs34351934 ABCA12 AR synonymous SNV NM_173076 exon28 c.T4126C p.L1376L 0.207069 0.0407 0.194910 0.1356 0.0402 Uncertain 2_215855780_G->A 2 215855780 215855780 G A snp 1346.77 0/1 99 123 67 56 0.46 intronic rs4533467 ABCA12 AR NM_015657 exon30 c.58398+25G>A 0.30012 0.2857 0.370151 0.4433 0.2712 Uncertain 2_215862383_G->A 2 215862383 215862383 G A snp 756.77 0/1 99 62 28 34 0.55 intronic rs1980844 ABCA12 AR NM_015657 exon31 c.65061-35G>A 0.715455 0.9593 0.727972 0.8440 0.9597 Uncertain 2_215862633_C->G 2 215862633 215862633 C G snp 949.77 1/1 69 29 0 29 1.0 intronic rs1326748 ABCA12 AR NM_015657 exon31 c.65176+100C>G 0.997404 1 Uncertain 2_215862711_G->A 2 215862711 215862711 G A snp 96.28 1/1 9 3 0 3 1.0 intronic rs4673926 ABCA12 AR NM_015657 exon31 c.65176+178G>A 0.997404 1 Uncertain 2_215865849_G->A 2 215865849 215865849 G A snp 139.03 1/1 12 4 0 4 1.0 intronic rs2049361 ABCA12 AR NM_015657 exon32 c.68387+105G>A 0.995008 1 Uncertain 2_215869066_T->C 2 215869066 215869066 T C snp 112.77 0/1 99 10 5 5 0.5 intronic rs34644785 ABCA12 AR NM_015657 exon34 c.71666+43T>C 0.141174 0.0456 0.121844 0.1245 0.0492 Uncertain 2_215872334_G->A 2 215872334 215872334 G A snp 1452.77 0/1 99 118 58 60 0.51 intronic rs940279 ABCA12 AR NM_015657 exon35 c.75093-116G>A 0.717452 0.9544 Uncertain 2_215874918_T->C 2 215874918 215874918 T C snp 133.03 1/1 12 4 0 4 1.0 intronic rs4673929 ABCA12 AR NM_015657 exon36 c.77697-136T>C 0.998403 1 Uncertain 2_215874965_G->T 2 215874965 215874965 G T snp 334.77 0/1 99 19 9 10 0.53 intronic rs6733264 ABCA12 AR NM_015657 exon36 c.77697-89G>T 0.716254 0.9544 Uncertain 2_215875251_A->T 2 215875251 215875251 A T snp 1279.77 1/1 96 37 0 37 1.0 intronic rs1409607 ABCA12 AR NM_015657 exon36 c.77837+57A>T 0.9998 1 Uncertain 2_215876166_A->T 2 215876166 215876166 A T snp 857.77 1/1 63 26 0 26 1.0 exonic rs7560008 ABCA12 AR nonsynonymous SNV NM_173076 exon17 c.T2329A p.S777T 0.998403 1 0.997770 0.9994 1 0.76 T 0.020 P -1.000 T 0.0 T 0.007 T Pathogenic 2_215876371_T->C 2 215876371 215876371 T C snp 1278.77 0/1 99 117 62 55 0.47 exonic rs10198064 ABCA12 AR synonymous SNV NM_173076 exon17 c.A2124G p.A708A 0.279353 0.0456 0.263417 0.1520 0.0442 Uncertain 2_215876589_-->T 2 215876589 215876589 - T indel 256.73 0/1 99 37 18 19 0.51 intronic rs11388414 ABCA12 AR NM_015657 exon38 c.79337-105insT 0.497804 0.5179 Uncertain 2_215878240_G->A 2 215878240 215878240 G A snp 1348.77 1/1 96 51 0 51 1.0 intronic rs7594353 ABCA12 AR NM_015657 exon38 c.79502+1381G>A 0.998403 1 Uncertain 2_215878246_C->T 2 215878246 215878246 C T snp 1505.77 1/1 99 56 0 56 1.0 intronic rs10192100 ABCA12 AR NM_015657 exon38 c.79502+1387C>T 1 1 Uncertain 2_215878264_C->A 2 215878264 215878264 C A snp 851.77 0/1 99 68 30 38 0.56 intronic rs7594270 ABCA12 AR NM_015657 exon38 c.79502+1405C>A 0.276358 0.0456 Uncertain 2_215878433_G->A 2 215878433 215878433 G A snp 558.77 0/1 99 41 19 22 0.54 intronic rs11896277 ABCA12 AR NM_015657 exon38 c.79502+1574G>A 0.275759 0.0456 Uncertain 2_215878508_T->G 2 215878508 215878508 T G snp 74.77 0/1 69 5 2 3 0.6 intronic rs72950240 ABCA12 AR NM_015657 exon38 c.79502+1649T>G 0.0517173 0.0456 Uncertain 2_215880108_C->T 2 215880108 215880108 C T snp 124.03 1/1 12 5 0 5 1.0 intronic rs6753310 ABCA12 AR NM_015657 exon39 c.82856-105C>T 0.782149 1 Uncertain 2_215882529_G->A 2 215882529 215882529 G A snp 171.9 1/1 15 5 0 5 1.0 intronic rs6435868 ABCA12 AR NM_015657 exon40 c.85374-202G>A 0.996605 1 Uncertain 2_215890353_TT->- 2 215890353 215890354 TT - indel 207.77 1/1 21 7 0 7 1.0 intronic rs5838480 ABCA12 AR NM_015657 exon43 c.93039-43_93039-42delTT 1 1 0.963449 0.9951 0.9967 Uncertain 2_215901592_A->G 2 215901592 215901592 A G snp 401.77 0/1 99 23 8 15 0.65 intronic rs1474331 ABCA12 AR NM_173076 exon46 c.104319-84A>G 0.235623 0.4127 Uncertain 2_215901774_C->T 2 215901774 215901774 C T snp 1673.77 0/1 99 162 86 76 0.47 exonic rs17501837 ABCA12 AR synonymous SNV NM_173076 exon8 c.G888A p.V296V 0.223442 0.4127 0.189759 0.2057 0.3980 ID=COSM50991;OCCURENCE=1(breast),1(large_intestine) Uncertain 2_215919166_G->A 2 215919166 215919166 G A snp 462.77 0/1 99 23 8 15 0.65 intronic rs10194592 ABCA12 AR NM_173076 exon50 c.121939-130G>A 0.300319 0.4058 Uncertain 2_215928972_G->C 2 215928972 215928972 G C snp 511.77 0/1 99 40 21 19 0.47 intronic rs1523721 ABCA12 AR NM_173076 exon51 c.131585+30G>C 0.624201 0.6627 0.643187 0.5776 0.6904 Uncertain 2_215940242_T->C 2 215940242 215940242 T C snp 4650.77 1/1 99 180 0 180 1.0 intronic rs6711179 ABCA12 AR NM_173076 exon51 c.131585+11300T>C 0.761581 0.7421 0.7418 0.7268 0 D 0.0 P -1.027 T Uncertain 2_215976231_A->T 2 215976231 215976231 A T snp 98.28 1/1 9 5 0 5 1.0 intronic rs2948978 ABCA12 AR NM_173076 exon52 c.178962-88A>T 0.965056 1 Uncertain 2_216176648_A->G 2 216176648 216176648 A G snp 56.74 1/1 6 2 0 2 1.0 upstream rs78631308 ATIC AR 0.962859 1 Uncertain 2_216182769_A->T 2 216182769 216182769 A T snp 1289.77 1/1 96 38 0 38 1.0 intronic rs4672766 ATIC AR NM_004044 exon3 c.6014-110A>T 1 1 Uncertain 2_216182770_C->T 2 216182770 216182770 C T snp 1362.77 1/1 99 42 0 42 1.0 intronic rs75285060 ATIC AR NM_004044 exon3 c.6014-109C>T 0.246006 0.4831 Uncertain 2_216184482_A->G 2 216184482 216184482 A G snp 2617.77 1/1 99 97 0 97 1.0 intronic rs16853782 ATIC AR NM_004044 exon4 c.7589+28A>G 0.253794 0.4841 0.192633 0.2404 0.4902 Uncertain 2_216189825_A->G 2 216189825 216189825 A G snp 303.78 1/1 24 8 0 8 1.0 intronic rs3772077 ATIC AR NM_004044 exon5 c.13098-138A>G 0.260383 0.4851 Uncertain 2_216189845_A->G 2 216189845 216189845 A G snp 552.77 1/1 42 14 0 14 1.0 intronic rs3772078 ATIC AR NM_004044 exon5 c.13098-118A>G 0.245407 0.4851 Uncertain 2_216190691_A->C 2 216190691 216190691 A C snp 2749.77 1/1 99 102 0 102 1.0 intronic rs2177737 ATIC AR NM_004044 exon6 c.13844-18A>C 1 1 0.999846 0.9999 0.9999 Uncertain 2_216191533_C->T 2 216191533 216191533 C T snp 976.77 1/1 72 28 0 28 1.0 intronic rs78562722 ATIC AR NM_004044 exon7 c.14679-11C>T 0.245008 0.4831 0.184761 0.2319 0.4801 Uncertain 2_216197971_T->C 2 216197971 216197971 T C snp 267.8 1/1 21 7 0 7 1.0 intronic rs12995526 ATIC AR NM_004044 exon9 c.21207-101T>C 0.531749 0.7728 Uncertain 2_216199525_T->C 2 216199525 216199525 T C snp 525.77 1/1 39 15 0 15 1.0 intronic rs12466139 ATIC AR NM_004044 exon10 c.22776-116T>C 0.255591 0.4782 Uncertain 2_216199551_T->A 2 216199551 216199551 T A snp 986.77 1/1 72 32 0 32 1.0 intronic rs10932608 ATIC AR NM_004044 exon10 c.22776-90T>A 0.293331 0.4782 Uncertain 2_216199881_T->G 2 216199881 216199881 T G snp 54.74 1/1 6 2 0 2 1.0 intronic rs7594036 ATIC AR NM_004044 exon10 c.22862+154T>G 1 1 Uncertain 2_216200907_C->G 2 216200907 216200907 C G snp 2701.77 1/1 99 92 0 92 1.0 intronic rs13002576 ATIC AR NM_004044 exon11 c.23982+60C>G 0.521366 0.7728 Uncertain 2_216209303_T->C 2 216209303 216209303 T C snp 56.74 1/1 6 2 0 2 1.0 intronic rs12471482 ATIC AR NM_004044 exon13 c.32636-198T>C 0.945887 1 Uncertain 2_216211712_A->T 2 216211712 216211712 A T snp 3254.77 1/1 99 124 0 124 1.0 intronic rs10932609 ATIC AR NM_004044 exon14 c.34799+48A>T 1 1 0.999846 1.0000 1 Uncertain 2_216212279_G->C 2 216212279 216212279 G C snp 4453.77 1/1 99 173 0 173 1.0 intronic rs4673992 ATIC AR NM_004044 exon14 c.34799+615G>C 0.946086 1 Uncertain 2_216214492_T->G 2 216214492 216214492 T G snp 551.77 1/1 42 19 0 19 1.0 UTR3 rs10498036 ATIC AR 0.595248 0.7034 Uncertain 2_216235089_C->T 2 216235089 216235089 C T snp 3139.77 1/1 99 121 0 121 1.0 exonic rs1250209 FN1 AU,AD nonsynonymous SNV NM_212482 exon41 c.G6781A p.V2261I 0.9998 1 0.999846 1.0000 1 1 T 1.0 P -0.928 T 0.022 T 0.02 T Pathogenic 2_216236532_G->A 2 216236532 216236532 G A snp 463.77 1/1 36 14 0 14 1.0 intronic rs10804241 FN1 AU,AD NM_212482 exon7 c.10354-99G>A 0.330671 0.7688 Uncertain 2_216237929_A->T 2 216237929 216237929 A T snp 709.77 1/1 54 19 0 19 1.0 intronic rs2289199 FN1 AU,AD NM_212482 exon8 c.11767-115A>T 0.334265 0.7758 Uncertain 2_216238320_A->G 2 216238320 216238320 A G snp 90.28 1/1 9 3 0 3 1.0 intronic rs7349218 FN1 AU,AD NM_212482 exon8 c.11857+186A>G 0.369609 0.7758 Uncertain 2_216240127_AC->- 2 216240127 216240128 AC - indel 2324.73 1/1 99 49 0 49 1.0 intronic rs3214672 FN1 AU,AD NM_212482 exon9 c.13839+11_13839+12delAC 0.379593 0.7659 0.244929 0.3189 0.7828 Uncertain 2_216240584_T->G 2 216240584 216240584 T G snp 391.77 1/1 30 10 0 10 1.0 intronic rs6707530 FN1 AU,AD NM_212482 exon10 c.14164+143T>G 0.415535 0.7738 Uncertain 2_216242917_T->A 2 216242917 216242917 T A snp 3135.77 1/1 99 116 1 115 0.99 exonic rs1132741 FN1 AU,AD synonymous SNV NM_212482 exon35 c.A5691T p.G1897G 0.324681 0.7659 0.189912 0.2868 0.7818 Uncertain 2_216243832_T->C 2 216243832 216243832 T C snp 3858.77 1/1 99 144 0 144 1.0 intronic rs1250204 FN1 AU,AD NM_212482 exon13 c.17575-20T>C 0.9375 0.999 0.929110 0.9523 0.9994 Uncertain 2_216248305_G->T 2 216248305 216248305 G T snp 998.77 1/1 75 28 0 28 1.0 intronic rs1250203 FN1 AU,AD NM_212482 exon16 c.21929+99G>T 0.827476 0.999 Uncertain 2_216248606_T->C 2 216248606 216248606 T C snp 128.03 1/1 12 4 0 4 1.0 intronic rs13018173 FN1 AU,AD NM_212482 exon17 c.22465-136T>C 0.374002 0.7659 Uncertain 2_216248708_AA->- 2 216248708 216248709 AA - indel 1736.73 1/1 99 35 0 35 1.0 intronic rs35639338 FN1 AU,AD NM_212482 exon17 c.22465-34_22465-33delAA 0.373802 0.7649 0.239978 0.3019 0.7815 Uncertain 2_216249587_C->T 2 216249587 216249587 C T snp 2169.77 1/1 99 75 0 75 1.0 exonic rs13652 FN1 AU,AD synonymous SNV NM_212482 exon29 c.G4725A p.E1575E 0.86861 0.999 0.849300 0.8752 0.9986 Uncertain 2_216249819_C->T 2 216249819 216249819 C T snp 222.84 1/1 18 6 0 6 1.0 intronic rs1250201 FN1 AU,AD NM_212482 exon18 c.23422+120C>T 0.930112 0.999 Uncertain 2_216251697_G->A 2 216251697 216251697 G A snp 385.77 1/1 30 12 0 12 1.0 intronic rs35343655 FN1 AU,AD NM_212482 exon19 c.25404+16G>A 0.373602 0.7669 0.239812 0.3241 0.7854 Uncertain 2_216252756_T->C 2 216252756 216252756 T C snp 214.84 1/1 18 7 0 7 1.0 intronic rs2888354 FN1 AU,AD NM_212482 exon20 c.26657-178T>C 0.378994 0.7679 Uncertain 2_216256615_T->C 2 216256615 216256615 T C snp 471.77 1/1 36 13 0 13 1.0 intronic rs6709607 FN1 AU,AD NM_212482 exon21 c.30260+78T>C 0.689297 0.8224 Uncertain 2_216262621_A->C 2 216262621 216262621 A C snp 1682.77 1/1 99 60 0 60 1.0 intronic rs6725958 FN1 AU,AD NM_212482 exon25 c.36294+50A>C 0.654153 0.9335 0.589958 0.6020 0.9300 Uncertain 2_216263926_C->A 2 216263926 216263926 C A snp 1416.77 1/1 99 45 0 45 1.0 intronic rs2692224 FN1 AU,AD NM_212482 exon26 c.37702-53C>A 0.616813 0.9335 0.553219 Uncertain 2_216263938_-->T 2 216263938 216263938 - T indel 2125.73 1/1 99 51 0 51 1.0 intronic rs3832178 FN1 AU,AD NM_212482 exon26 c.37702-41insT 0.617013 0.9335 0.557898 0.5899 0.9287 Uncertain 2_216269031_G->T 2 216269031 216269031 G T snp 289.9 0/1 15 14 2 12 0.86 intronic rs7575551 FN1 AU,AD NM_212482 exon27 c.42834-80G>T 0.407348 0.9335 Uncertain 2_216272819_C->G 2 216272819 216272819 C G snp 1665.77 1/1 99 54 0 54 1.0 intronic rs7570208 FN1 AU,AD NM_212482 exon30 c.46553-11C>G 0.665935 0.9315 0.606797 0.6051 0.9236 Uncertain 2_216272900_T->G 2 216272900 216272900 T G snp 3148.77 1/1 99 116 0 116 1.0 exonic rs2577301 FN1 AU,AD nonsynonymous SNV NM_212482 exon17 c.A2449C p.T817P 0.9998 1 0.999923 1.0000 1 0.06 T 0.000 P -0.957 T 0.0 T 0.001 T Pathogenic 2_216272907_A->T 2 216272907 216272907 A T snp 3057.77 1/1 99 121 0 121 1.0 exonic rs7596677 FN1 AU,AD synonymous SNV NM_212482 exon17 c.T2442A p.P814P 0.421526 0.9306 0.252191 0.3394 0.9220 Uncertain 2_216274854_AC->- 2 216274854 216274855 AC - indel 1487.73 1/1 76 47 1 46 0.98 intronic rs397987770 FN1 AU,AD NM_212482 exon33 c.48560+17_48560+18delAC 0.39397 0.9226 0.3020 0.8398 Uncertain 2_216283958_T->A 2 216283958 216283958 T A snp 2964.77 1/1 99 119 0 119 1.0 intronic rs3796123 FN1 AU,AD NM_212482 exon35 c.57687-6T>A 0.411542 0.9246 0.235430 0.3206 0.9223 Uncertain 2_216285530_T->C 2 216285530 216285530 T C snp 1272.77 0/1 99 121 66 55 0.45 splicing rs3213885 FN1 AU,AD NM_212482 exon36 c.59247+6T>C 0.00838658 0.0417 0.0027 0.0380 Pathogenic 2_216287093_A->G 2 216287093 216287093 A G snp 301.78 1/1 24 8 0 8 1.0 intronic rs1250248 FN1 AU,AD NM_212482 exon37 c.60689+127A>G 0.783347 0.9256 Uncertain 2_216295312_T->A 2 216295312 216295312 T A snp 481.77 1/1 36 14 0 14 1.0 intronic rs1250241 FN1 AU,AD NM_212482 exon42 c.69160-125T>A 0.794928 0.9256 Uncertain 2_216299281_A->C 2 216299281 216299281 A C snp 666.77 1/1 51 17 0 17 1.0 intronic rs1250246 FN1 AU,AD NM_212482 exon45 c.73141-137A>C 0.568291 0.9286 Uncertain 2_216299550_G->A 2 216299550 216299550 G A snp 4804.77 1/1 99 172 0 172 1.0 splicing rs2577290 FN1 AU,AD NM_212482 exon45 c.73270+3G>A 0.422324 0.9246 0.144549 0.3196 0.9220 Pathogenic 2_216299551_C->A 2 216299551 216299551 C A snp 4796.77 1/1 99 169 0 169 1.0 splicing rs2692234 FN1 AU,AD NM_212482 exon45 c.73270+4C>A 0.422324 0.9246 0.131401 0.3196 0.9222 Pathogenic 2_216299571_-->TAC 2 216299571 216299571 - TAC indel 7662.73 1/1 99 138 0 138 1.0 intronic rs10648691 FN1 AU,AD NM_212482 exon45 c.73270+24insTAC 0.56889 0.9256 0.492413 0.5035 0.9227 Uncertain 2_216299629_C->G 2 216299629 216299629 C G snp 1424.77 1/1 99 36 0 36 1.0 intronic rs1250247 FN1 AU,AD NM_212482 exon45 c.73270+82C>G 0.792532 0.9256 Uncertain 2_216300185_C->T 2 216300185 216300185 C T snp 261.8 1/1 21 7 0 7 1.0 intronic rs1250258 FN1 AU,AD NM_212482 exon46 c.74100-192C>T 0.792732 0.9246 Uncertain 2_216300482_T->A 2 216300482 216300482 T A snp 1765.77 1/1 99 61 0 61 1.0 exonic rs1250259 FN1 AU,AD nonsynonymous SNV NM_212482 exon1 c.A44T p.Q15L 0.795128 0.9246 0.788527 0.7691 0.9199 1 T 0.000 P -0.961 T 0.007 T 0.009 T Pathogenic 2_216878008_C->G 2 216878008 216878008 C G snp 2832.77 1/1 99 96 0 96 1.0 exonic rs1864253 MREG AU nonsynonymous SNV NM_018000 exon1 c.G43C p.G15R 0.677117 0.6806 0.676641 0.6400 0.6693 0.26 T 1.000 P -0.959 T 0.0 T 0.0 T Pathogenic 2_216878149_C->A 2 216878149 216878149 C A snp 163.77 0/1 99 24 16 8 0.33 UTR5 rs2241624 MREG AU 0.0279553 0.1032 Uncertain 2_216903894_A->C 2 216903894 216903894 A C snp 415.77 0/1 99 32 14 18 0.56 UTR3 rs10197542 PECR AU 0.18151 0.1865 Uncertain 2_216904019_A->T 2 216904019 216904019 A T snp 1692.77 0/1 99 166 89 77 0.46 exonic rs9288513 PECR AU nonsynonymous SNV NM_018441 exon8 c.T891A p.F297L 0.18131 0.1855 0.142626 0.1317 0.2057 0.65 T 0.0 P -1.066 T 0.001 T 0.001 T Pathogenic 2_216923679_C->T 2 216923679 216923679 C T snp 2271.77 0/1 99 202 99 103 0.51 exonic rs1429148 PECR AU nonsynonymous SNV NM_018441 exon4 c.G445A p.E149K 0.17512 0.1935 0.111410 0.1103 0.2088 0.69 T 0.892 P -0.982 T 0.015 T 0.062 T Pathogenic 2_217012901_A->G 2 217012901 217012901 A G snp 2624.77 1/1 99 91 0 91 1.0 exonic rs207906 XRCC5 AU synonymous SNV NM_021141 exon14 c.A1572G p.T524T 0.882788 0.9296 0.873212 0.8710 0.9229 Uncertain 2_217024698_T->- 2 217024698 217024698 T - indel 180.7 1/1 6 11 1 10 0.91 intronic rs58550995 XRCC5 AU NM_021141 exon15 c.50631-92delT 0.596645 0.4206 Uncertain 2_217055171_A->G 2 217055171 217055171 A G snp 2076.77 1/1 99 63 0 63 1.0 intronic rs12470053 XRCC5 AU NM_021141 exon17 c.80898+114A>G 0.829473 0.9365 Uncertain 2_217059428_G->A 2 217059428 217059428 G A snp 46.77 0/1 33 3 1 2 0.67 intronic rs3732023 XRCC5 AU NM_021141 exon19 c.85482-213G>A 0.420927 0.7183 Uncertain 2_217059809_G->A 2 217059809 217059809 G A snp 355.77 0/1 99 29 17 12 0.41 intronic rs3821102 XRCC5 AU NM_021141 exon19 c.85550+100G>A 0.15595 0.1498 Uncertain 2_217069151_A->G 2 217069151 217069151 A G snp 1235.77 0/1 99 115 64 51 0.44 intronic rs1438162 XRCC5 AU NM_021141 exon20 c.94960+32A>G 0.420727 0.7183 0.321698 0.4123 0.7392 Uncertain 2_217123958_T->C 2 217123958 217123958 T C snp 308.77 0/1 99 17 6 11 0.65 UTR3 rs169616 MARCH4 AU 0.775958 0.5159 Uncertain 2_217148417_C->A 2 217148417 217148417 C A snp 1818.77 0/1 99 164 91 73 0.45 exonic rs876771 MARCH4 AU synonymous SNV NM_020814 exon2 c.G552T p.S184S 0.435903 0.4345 0.430340 0.4719 0.4276 Uncertain 2_217148546_A->G 2 217148546 217148546 A G snp 38.77 0/1 67 6 3 3 0.5 intronic rs2249264 MARCH4 AU NM_020814 exon3 c.24418+94A>G 0.626997 0.4365 Uncertain 2_217280824_T->C 2 217280824 217280824 T C snp 336.77 0/1 99 25 14 11 0.44 intronic rs2306638 SMARCAL1 AR NM_001127207 exon4 c.1552-155T>C 0.0888578 0.1637 Uncertain 2_217281151_C->- 2 217281151 217281151 C - indel 735.73 1/1 69 28 0 28 1.0 intronic rs3214962 SMARCAL1 AR NM_001127207 exon4 c.1603+121delC 0.760783 0.7808 Uncertain 2_217285407_A->G 2 217285407 217285407 A G snp 207.77 0/1 99 20 13 7 0.35 intronic rs3816784 SMARCAL1 AR NM_001127207 exon5 c.5828+152A>G 0.0890575 0.1637 Uncertain 2_217288388_G->C 2 217288388 217288388 G C snp 1458.77 0/1 99 112 54 58 0.52 exonic rs2066518 SMARCAL1 AR nonsynonymous SNV NM_014140 exon6 c.G1129C p.E377Q 0.0728834 0.1696 0.032523 0.0333 0.1503 0.12 T 1.000 P -0.870 T 0.425 T 0.324 T ID=CM071094;DIS=Schimke immuno-osseous dysplasia;TAG=DM?;PUB=17089404 DM? Pathogenic 2_217297350_G->A 2 217297350 217297350 G A snp 289.77 0/1 99 16 5 11 0.69 intronic rs2271334 SMARCAL1 AR NM_001127207 exon8 c.18013-90G>A 0.258786 0.3363 Uncertain 2_217297418_A->G 2 217297418 217297418 A G snp 671.77 0/1 99 56 27 29 0.52 intronic rs2066521 SMARCAL1 AR NM_001127207 exon8 c.18013-22A>G 0.0726837 0.1706 0.032523 0.0333 0.1494 Uncertain 2_217303087_T->C 2 217303087 217303087 T C snp 1671.77 0/1 99 136 66 70 0.51 intronic rs3816783 SMARCAL1 AR NM_001127207 exon10 c.23715-55T>C 0.0730831 0.1726 0.030223 Uncertain 2_217311630_G->T 2 217311630 217311630 G T snp 1213.77 1/1 93 31 0 31 1.0 intronic rs284550 SMARCAL1 AR NM_001127207 exon11 c.32313-110G>T 0.45028 0.5109 Uncertain 2_217329184_T->C 2 217329184 217329184 T C snp 371.77 0/1 99 36 20 16 0.44 intronic rs2129119 SMARCAL1 AR NM_001127207 exon13 c.49892-135T>C 0.332069 0.3671 Uncertain 2_217342000_T->C 2 217342000 217342000 T C snp 507.77 0/1 99 60 36 24 0.4 intronic rs284523 SMARCAL1 AR NM_001127207 exon16 c.62505+68T>C 0.402756 0.372 Uncertain 2_217342063_A->G 2 217342063 217342063 A G snp 241.77 0/1 99 24 13 11 0.46 intronic rs205980 SMARCAL1 AR NM_001127207 exon16 c.62505+131A>G 0.402756 0.372 Uncertain 2_217342773_T->G 2 217342773 217342773 T G snp 238.77 0/1 55 10 2 8 0.8 intronic rs284524 SMARCAL1 AR NM_001127207 exon17 c.63498-152T>G 0.288339 0.3651 Uncertain 2_217343136_-->C 2 217343136 217343136 - C indel 147.75 0/1 23 8 1 7 0.88 intronic rs397693463 SMARCAL1 AR NM_001127207 exon17 c.63595+114insC 0.434305 0.373 Uncertain 2_217363597_C->T 2 217363597 217363597 C T snp 1846.77 0/1 99 174 90 84 0.48 UTR5 rs28365967 RPL37A AU 0.0748802 0.1855 0.031601 0.0397 0.1590 Uncertain 2_217363638_G->A 2 217363638 217363638 G A snp 2229.77 0/1 99 209 104 105 0.5 intronic rs28365968 RPL37A AU NM_000998 exon1 c.3+38G>A 0.0748802 0.1855 0.031524 0.0395 0.1576 Uncertain 2_217363673_A->G 2 217363673 217363673 A G snp 2306.77 0/1 99 209 108 101 0.48 intronic rs28365969 RPL37A AU NM_000998 exon1 c.3+73A>G 0.0748802 0.1855 0.026938 Uncertain 2_217363840_A->G 2 217363840 217363840 A G snp 141.77 0/1 99 14 8 6 0.43 intronic rs12619115 RPL37A AU NM_000998 exon2 c.395-152A>G 0.0748802 0.1855 Uncertain 2_217364539_C->T 2 217364539 217364539 C T snp 1389.77 0/1 99 126 66 60 0.48 intronic rs284572 RPL37A AU NM_000998 exon3 c.1074-132C>T 0.686502 0.6111 0.8084 0.6846 Uncertain 2_217364764_G->T 2 217364764 217364764 G T snp 107.77 0/1 99 14 9 5 0.36 intronic rs2272243 RPL37A AU NM_000998 exon3 c.1157+10G>T 0.13738 0.1875 0.116562 0.0785 0.1590 Uncertain 2_217498839_T->G 2 217498839 217498839 T G snp 80.28 1/1 9 3 0 3 1.0 intronic rs3770473 IGFBP2 AU NM_000597 exon1 c.442+151T>G 0.329473 0.4147 Uncertain 2_217541582_T->C 2 217541582 217541582 T C snp 5215.77 1/1 99 199 0 199 1.0 exonic rs2160549 IGFBP5 AU synonymous SNV NM_000599 exon4 c.A711G p.K237K 0.978634 1 0.977856 0.9942 1 Uncertain 2_218577575_T->A 2 218577575 218577575 T A snp 227.84 1/1 18 7 0 7 1.0 ncRNA_intronic rs1835333 DIRC3 AU 0.989816 1 Uncertain 2_218604247_A->C 2 218604247 218604247 A C snp 2226.77 1/1 99 83 1 82 0.99 ncRNA_intronic rs4672848 DIRC3 AU 0.98123 1 0.9980 1 0 D 0.0 P -1.053 T Uncertain 2_218604303_A->- 2 218604303 218604303 A - indel 944.73 0/1 99 102 45 57 0.56 ncRNA_intronic rs11336139 DIRC3 AU 0.277556 0.2083 0.3707 0.3304 Uncertain 2_218604356_G->A 2 218604356 218604356 G A snp 770.77 0/1 99 66 38 28 0.42 ncRNA_intronic rs4294980 DIRC3 AU 0.651158 0.8095 Uncertain 2_218673230_-->CA 2 218673230 218673230 - CA indel 122.73 0/1 99 17 12 5 0.29 intronic rs112279658 TNS1 AU NM_022648 exon3 c.4144-95insCA Uncertain 2_218674353_T->C 2 218674353 218674353 T C snp 37.77 0/1 56 5 2 3 0.6 intronic rs13428124 TNS1 AU NM_022648 exon4 c.5364-192T>C Uncertain 2_218674484_C->T 2 218674484 218674484 C T snp 656.77 0/1 99 57 29 28 0.49 intronic rs1035671 TNS1 AU NM_022648 exon4 c.5364-61C>T 0.166933 0.1617 Uncertain 2_218674697_C->T 2 218674697 218674697 C T snp 601.77 0/1 99 80 51 29 0.36 exonic rs918949 TNS1 AU nonsynonymous SNV NM_022648 exon30 c.G4810A p.V1604I 0.610224 0.505 0.664078 0.5949 0.5022 0.62 T 1.000 P -0.934 T 0.0 T 0.003 T Pathogenic 2_218675144_G->A 2 218675144 218675144 G A snp 778.77 0/1 99 76 42 34 0.45 intronic rs918950 TNS1 AU NM_022648 exon5 c.5861+102G>A 0.608427 0.506 Uncertain 2_218675199_G->A 2 218675199 218675199 G A snp 324.77 0/1 99 28 15 13 0.46 intronic rs1035672 TNS1 AU NM_022648 exon5 c.5861+157G>A 0.608227 0.506 Uncertain 2_218676970_A->C 2 218676970 218676970 A C snp 143.77 0/1 99 11 6 5 0.45 intronic rs2288162 TNS1 AU NM_022648 exon6 c.7909-120A>C 0.119209 0.1488 Uncertain 2_218677279_C->T 2 218677279 218677279 C T snp 1036.77 0/1 99 90 47 43 0.48 intronic rs2288163 TNS1 AU NM_022648 exon6 c.7987+111C>T 0.0810703 0.1488 Uncertain 2_218678582_C->T 2 218678582 218678582 C T snp 263.77 0/1 57 13 3 10 0.77 intronic rs7559273 TNS1 AU NM_022648 exon8 c.9358+43C>T 0.0838658 0.1488 0.024912 0.0706 0.1474 Uncertain 2_218682474_A->G 2 218682474 218682474 A G snp 1046.77 0/1 99 105 56 49 0.47 exonic rs12694422 TNS1 AU synonymous SNV NM_022648 exon24 c.T4269C p.S1423S 0.376797 0.246 0.406043 0.4032 0.2620 Uncertain 2_218682771_A->G 2 218682771 218682771 A G snp 1661.77 0/1 99 155 89 66 0.43 exonic rs3796026 TNS1 AU synonymous SNV NM_022648 exon24 c.T3972C p.G1324G 0.332867 0.246 0.342437 0.4140 0.2960 Uncertain 2_218683154_A->G 2 218683154 218683154 A G snp 1435.77 0/1 99 114 56 58 0.51 exonic rs2571445 TNS1 AU nonsynonymous SNV NM_022648 exon24 c.T3589C p.W1197R 0.658946 0.621 0.677687 0.6196 0.6221 0.82 T 1.000 P -0.945 T 0.0 T 0.0 T Pathogenic 2_218683257_A->G 2 218683257 218683257 A G snp 1664.77 0/1 99 171 101 70 0.41 exonic rs2571442 TNS1 AU synonymous SNV NM_022648 exon24 c.T3486C p.A1162A 0.402556 0.246 0.429340 0.4081 0.2574 Uncertain 2_218683368_C->T 2 218683368 218683368 C T snp 1653.77 0/1 99 148 71 77 0.52 exonic rs34144104 TNS1 AU synonymous SNV NM_022648 exon24 c.G3375A p.P1125P 0.215256 0.2292 0.226665 0.2731 0.2442 Uncertain 2_218694511_T->- 2 218694511 218694511 T - indel 2070.73 1/1 99 52 0 52 1.0 intronic rs398091071 TNS1 AU NM_022648 exon12 c.25385-55delT 0.759385 0.7083 Uncertain 2_218694512_T->G 2 218694512 218694512 T G snp 1580.77 1/1 99 52 0 52 1.0 intronic rs55694913 TNS1 AU NM_022648 exon12 c.25385-54T>G 0.759385 0.7083 Uncertain 2_218694551_A->G 2 218694551 218694551 A G snp 739.77 0/1 99 66 35 31 0.47 intronic rs16858298 TNS1 AU NM_022648 exon12 c.25385-15A>G 0.234225 0.2688 0.219437 0.2540 0.2731 Uncertain 2_218694691_A->G 2 218694691 218694691 A G snp 1061.77 0/1 99 69 23 46 0.67 intronic rs10188605 TNS1 AU NM_022648 exon12 c.25424+86A>G 0.417532 0.4365 Uncertain 2_218694842_C->A 2 218694842 218694842 C A snp 88.77 0/1 30 5 1 4 0.8 intronic rs4674219 TNS1 AU NM_022648 exon12 c.25424+237C>A 0.232029 0.2669 Uncertain 2_218694962_C->G 2 218694962 218694962 C G snp 270.77 0/1 99 18 8 10 0.56 intronic rs10165160 TNS1 AU NM_022648 exon13 c.25908-127C>G 0.330871 0.2669 Uncertain 2_218695102_G->A 2 218695102 218695102 G A snp 872.77 0/1 99 86 49 37 0.43 exonic rs3796028 TNS1 AU nonsynonymous SNV NM_022648 exon21 c.C3010T p.R1004W 0.375399 0.4276 0.332231 0.3630 0.4585 0.04 T 1.000 P -0.982 T 0.0 T 0.0 T Pathogenic 2_218706723_G->T 2 218706723 218706723 G T snp 532.77 0/1 99 35 14 21 0.6 intronic rs918951 TNS1 AU NM_022648 exon17 c.43051-5509G>T 0.434904 0.3442 Uncertain 2_218706857_T->C 2 218706857 218706857 T C snp 1310.77 0/1 99 97 44 53 0.55 intronic rs918952 TNS1 AU NM_022648 exon17 c.43051-5375T>C 0.473642 0.3442 0.4419 0.3350 Uncertain 2_218707083_-->C 2 218707083 218707083 - C indel 335.73 0/1 99 17 7 10 0.59 intronic rs397828850 TNS1 AU NM_022648 exon17 c.43051-5149insC 0.473642 0.3442 Uncertain 2_218712102_A->G 2 218712102 218712102 A G snp 345.77 0/1 99 17 6 11 0.65 intronic rs55763335 TNS1 AU NM_022648 exon17 c.43051-130A>G 0.45647 0.3452 Uncertain 2_218712306_C->T 2 218712306 218712306 C T snp 922.77 0/1 99 119 78 41 0.34 exonic rs1004814 TNS1 AU synonymous SNV NM_022648 exon17 c.G2559A p.A853A 0.434505 0.3442 0.397355 0.3530 0.3417 Uncertain 2_218712606_G->A 2 218712606 218712606 G A snp 1811.77 0/1 99 139 59 80 0.58 exonic rs1364641 TNS1 AU synonymous SNV NM_022648 exon17 c.C2259T p.S753S 0.435104 0.3442 0.396586 0.3582 0.3395 Uncertain 2_218712726_A->G 2 218712726 218712726 A G snp 1602.77 0/1 99 135 74 61 0.45 exonic rs1364642 TNS1 AU synonymous SNV NM_022648 exon17 c.T2139C p.N713N 0.435703 0.3452 0.398124 0.3518 0.3426 Uncertain 2_218712918_C->T 2 218712918 218712918 C T snp 6050.77 1/1 99 213 0 213 1.0 exonic rs3796031 TNS1 AU synonymous SNV NM_022648 exon17 c.G1947A p.S649S 0.646965 0.6429 0.540934 0.5217 0.6839 Uncertain 2_218712936_C->T 2 218712936 218712936 C T snp 3070.77 0/1 99 236 112 124 0.53 exonic rs3796032 TNS1 AU synonymous SNV NM_022648 exon17 c.G1929A p.V643V 0.434904 0.3442 0.394858 0.3608 0.3419 Uncertain 2_218713282_G->A 2 218713282 218713282 G A snp 2969.77 0/1 99 250 131 119 0.48 exonic rs3796033 TNS1 AU nonsynonymous SNV NM_022648 exon17 c.C1583T p.T528I 0.413339 0.2937 0.385130 0.3454 0.2848 0.27 T 1.000 P -0.906 T 0.722 T 0.164 P Pathogenic 2_218745477_G->T 2 218745477 218745477 G T snp 347.77 0/1 99 47 34 13 0.28 intronic rs2288164 TNS1 AU NM_022648 exon18 c.76439-143G>T 0.139976 0.2351 Uncertain 2_218746990_A->T 2 218746990 218746990 A T snp 1389.77 0/1 99 103 46 57 0.55 intronic rs2303381 TNS1 AU NM_022648 exon19 c.77887-78A>T 0.117212 0.3155 Uncertain 2_218747190_T->C 2 218747190 218747190 T C snp 330.77 0/1 99 29 17 12 0.41 intronic rs2303383 TNS1 AU NM_022648 exon19 c.77953+56T>C 0.191094 0.3145 0.101799 Uncertain 2_218749626_T->C 2 218749626 218749626 T C snp 977.77 0/1 99 78 40 38 0.49 intronic rs2288165 TNS1 AU NM_022648 exon20 c.80576-131T>C 0.253994 0.3135 Uncertain 2_218750359_G->A 2 218750359 218750359 G A snp 407.77 0/1 99 20 5 15 0.75 intronic rs6714587 TNS1 AU NM_022648 exon21 c.81285-107G>A 0.257788 0.3135 Uncertain 2_218750377_C->T 2 218750377 218750377 C T snp 495.77 0/1 99 29 10 19 0.66 intronic rs12990490 TNS1 AU NM_022648 exon21 c.81285-89C>T 0.257588 0.3135 Uncertain 2_218750453_-->G 2 218750453 218750453 - G indel 1995.73 1/1 99 51 0 51 1.0 intronic rs35040165 TNS1 AU NM_022648 exon21 c.81285-13insG 0.649161 0.6369 0.528909 0.4816 0.6409 Uncertain 2_218750703_C->T 2 218750703 218750703 C T snp 955.77 0/1 99 95 54 41 0.43 intronic rs2288166 TNS1 AU NM_022648 exon22 c.81585-63C>T 0.25619 0.3075 0.158782 Uncertain 2_218750731_G->C 2 218750731 218750731 G C snp 1028.77 0/1 99 108 60 48 0.44 intronic rs2288167 TNS1 AU NM_022648 exon22 c.81585-35G>C 0.257388 0.3135 0.167615 0.1547 0.3287 Uncertain 2_218750734_T->A 2 218750734 218750734 T A snp 1022.77 0/1 99 110 62 48 0.44 intronic rs2288168 TNS1 AU NM_022648 exon22 c.81585-32T>A 0.257388 0.3135 0.167692 0.1548 0.3286 Uncertain 2_218750817_T->C 2 218750817 218750817 T C snp 908.77 0/1 99 95 54 41 0.43 exonic rs10211238 TNS1 AU synonymous SNV NM_022648 exon12 c.A615G p.P205P 0.258586 0.3135 0.168461 0.1560 0.3299 Uncertain 2_218758070_C->A 2 218758070 218758070 C A snp 247.77 0/1 99 16 8 8 0.5 intronic rs56217129 TNS1 AU NM_022648 exon26 c.88980-91C>A 0.233027 0.2113 Uncertain 2_218758123_-->CGCACA 2 218758123 218758123 - CGCACA indel 2659.73 ./1 99 48 1 47 0.98 intronic rs141673800 TNS1 AU NM_022648 exon26 c.88980-38insCGCACA 0.0646 0.1661 Uncertain 2_218758123_-->CACA 2 218758123 218758123 - CACA indel 2659.73 ./1 99 48 1 47 0.98 intronic rs141673800 TNS1 AU NM_022648 exon26 c.88980-38insCACA 0.0430 0.0417 Uncertain 2_218759674_G->C 2 218759674 218759674 G C snp 1900.77 0/1 99 151 67 84 0.56 intronic rs2288169 TNS1 AU NM_022648 exon27 c.90547-54G>C 0.15635 0.2897 0.075777 Uncertain 2_218768422_T->G 2 218768422 218768422 T G snp 2495.77 1/1 99 89 0 89 1.0 intronic rs3791936 TNS1 AU NM_022648 exon30 c.101876-2635T>G 0.503195 0.4345 Uncertain 2_218770003_G->A 2 218770003 218770003 G A snp 6737.77 1/1 99 250 0 250 1.0 intronic rs7600493 TNS1 AU NM_022648 exon30 c.101876-1054G>A 0.498802 0.4246 0.4561 0.4918 Uncertain 2_218770984_C->T 2 218770984 218770984 C T snp 669.77 0/1 99 37 13 24 0.65 intronic rs2288170 TNS1 AU NM_022648 exon30 c.101876-73C>T 0.153954 0.2242 Uncertain 2_218801767_C->T 2 218801767 218801767 C T snp 2202.77 1/1 99 79 0 79 1.0 intronic rs4674232 TNS1 AU NM_022648 exon33 c.139406-6820C>T 0.997005 1 Uncertain 2_218867737_C->T 2 218867737 218867737 C T snp 169.77 0/1 99 14 7 7 0.5 intergenic rs74270368 TNS1 AU 0.210863 0.4067 Uncertain 2_218925608_C->T 2 218925608 218925608 C T snp 1860.77 0/1 99 145 71 74 0.51 ncRNA_exonic rs114651961 CXCR2P1 AU 0.0277556 0.0853 0.0227 0.1040 Uncertain 2_218937860_G->T 2 218937860 218937860 G T snp 255.77 0/1 99 21 10 11 0.52 intronic rs10211510 RUFY4 AU NM_198483 exon7 c.2637-105G>T 0.25639 0.3472 Uncertain 2_218940259_C->T 2 218940259 218940259 C T snp 795.77 0/1 99 74 43 31 0.42 exonic rs7423696 RUFY4 AU synonymous SNV NM_198483 exon9 c.C1044T p.P348P 0.231829 0.2312 0.218135 0.3124 0.2594 Uncertain 2_218954298_G->A 2 218954298 218954298 G A snp 537.77 0/1 99 32 13 19 0.59 intronic RUFY4 AU NM_198483 exon12 c.18757+213G>A Uncertain 2_219000310_C->T 2 219000310 219000310 C T snp 2714.77 0/1 99 227 125 102 0.45 exonic rs2230054 CXCR2 AU synonymous SNV NM_001557 exon3 c.C786T p.L262L 0.51238 0.3175 0.550515 0.4896 0.3257 Uncertain 2_219082119_G->T 2 219082119 219082119 G T snp 1025.77 0/1 99 79 40 39 0.49 intronic rs2271541 ARPC2 AU 0.426917 0.5764 Uncertain 2_219082330_A->G 2 219082330 219082330 A G snp 1721.77 0/1 99 145 76 69 0.48 intronic rs12694432 ARPC2 AU NM_152862 exon2 c.74+63A>G 0.421725 0.5764 Uncertain 2_219090422_G->A 2 219090422 219090422 G A snp 180.9 1/1 15 5 0 5 1.0 intronic rs6757318 ARPC2 AU NM_152862 exon3 c.8449-220G>A 0.924521 1 Uncertain 2_219093278_A->G 2 219093278 219093278 A G snp 425.77 1/1 33 13 0 13 1.0 intronic rs2063711 ARPC2 AU NM_152862 exon4 c.11267-182A>G 0.891973 1 Uncertain 2_219099260_G->C 2 219099260 219099260 G C snp 472.77 1/1 36 15 0 15 1.0 intronic rs1018288 ARPC2 AU NM_152862 exon5 c.16927+140G>C 0.926118 1 Uncertain 2_219099484_T->C 2 219099484 219099484 T C snp 1020.77 0/1 99 57 22 35 0.61 intronic rs10932765 ARPC2 AU NM_152862 exon5 c.16927+364T>C 0.40615 0.5754 Uncertain 2_219103580_A->G 2 219103580 219103580 A G snp 1286.77 0/1 99 102 53 49 0.48 intronic rs10169718 ARPC2 AU NM_152862 exon6 c.21380+7A>G 0.426717 0.5754 0.382977 0.4969 0.5799 Uncertain 2_219104317_T->- 2 219104317 219104317 T - indel 255.73 0/1 99 63 11 52 0.83 intronic rs34974153 ARPC2 AU NM_152862 exon7 c.22014+110delT 0.474042 0.5198 Uncertain 2_219117482_G->A 2 219117482 219117482 G A snp 113.77 0/1 99 10 6 4 0.4 intronic rs35271699 ARPC2 AU NM_152862 exon11 c.36420-1131G>A 0.427316 0.5764 Uncertain 2_219128506_C->T 2 219128506 219128506 C T snp 2275.77 1/1 99 81 0 81 1.0 UTR3 rs2292549 GPBAR1 AU 0.788738 0.9921 Uncertain 2_219130802_T->C 2 219130802 219130802 T C snp 1562.77 0/1 99 142 74 68 0.48 exonic rs2305835 AAMP AU nonsynonymous SNV NM_001087 exon6 c.A748G p.I250V 0.0327476 0.0665 0.001615 0.0238 0.0739 0.61 T 0.968 D -0.952 T 0.006 T 0.002 T Pathogenic 2_219134928_A->G 2 219134928 219134928 A G snp 177.77 0/1 99 13 7 6 0.46 UTR5 rs1877714 AAMP AU 0.417133 0.38 Uncertain 2_219134950_C->T 2 219134950 219134950 C T snp 40.77 0/1 69 5 3 2 0.4 upstream rs13419763 AAMP AU 0.475439 0.6151 Uncertain 2_219138940_C->T 2 219138940 219138940 C T snp 874.77 0/1 99 91 53 38 0.42 UTR3 rs4791 TMBIM1 AU 0.451278 0.6161 Uncertain 2_219139573_G->A 2 219139573 219139573 G A snp 139.03 1/1 12 4 0 4 1.0 UTR3 rs6734242 TMBIM1 AU 0.958866 0.997 Uncertain 2_219140288_G->C 2 219140288 219140288 G C snp 681.77 0/1 99 70 41 29 0.41 exonic rs2292550 TMBIM1 AU synonymous SNV NM_022152 exon12 c.C846G p.P282P 0.332069 0.379 0.362756 0.3809 0.3879 Uncertain 2_219141546_C->T 2 219141546 219141546 C T snp 139.03 1/1 12 4 0 4 1.0 intronic rs4674281 PNKD AD NM_001077399 exon3 c.2412+3876C>T 0.975639 1 Uncertain 2_219142023_G->A 2 219142023 219142023 G A snp 647.77 1/1 51 20 0 20 1.0 intronic rs2168703 PNKD AD NM_001077399 exon3 c.2412+4353G>A 0.958666 0.997 Uncertain 2_219142491_C->T 2 219142491 219142491 C T snp 997.77 0/1 99 88 48 40 0.45 intronic rs2271543 PNKD AD NM_001077399 exon3 c.2412+4821C>T 0.326877 0.377 Uncertain 2_219142492_G->A 2 219142492 219142492 G A snp 1342.77 0/1 99 88 40 48 0.55 intronic rs2168704 PNKD AD NM_001077399 exon3 c.2412+4822G>A 0.476438 0.6151 Uncertain 2_219142594_C->T 2 219142594 219142594 C T snp 1537.77 0/1 99 150 80 70 0.47 intronic rs3817266 PNKD AD NM_001077399 exon3 c.2412+4924C>T 0.327676 0.378 0.358081 Uncertain 2_219142773_C->T 2 219142773 219142773 C T snp 1113.77 0/1 99 59 22 37 0.63 intronic rs6707559 PNKD AD NM_001077399 exon3 c.2412+5103C>T 0.630791 0.62 0.607753 Uncertain 2_219142860_C->A 2 219142860 219142860 C A snp 83.77 0/1 67 5 2 3 0.6 intronic rs13429408 PNKD AD NM_001077399 exon3 c.2412+5190C>A 0.482428 0.6151 Uncertain 2_219143229_G->A 2 219143229 219143229 G A snp 2430.77 0/1 99 218 107 111 0.51 intronic rs2292551 PNKD AD NM_001077399 exon3 c.2412+5559G>A 0.327276 0.377 0.357374 0.3785 0.3869 Uncertain 2_219143327_T->C 2 219143327 219143327 T C snp 1839.77 0/1 99 164 86 78 0.48 intronic rs2292552 PNKD AD NM_001077399 exon3 c.2412+5657T>C 0.327276 0.377 0.357450 0.3786 0.3876 Uncertain 2_219144089_G->A 2 219144089 219144089 G A snp 970.77 0/1 99 86 41 45 0.52 intronic rs12987180 PNKD AD NM_001077399 exon3 c.2412+6419G>A 0.327077 0.376 0.357297 0.3847 0.3879 Uncertain 2_219144149_G->A 2 219144149 219144149 G A snp 457.77 0/1 99 29 12 17 0.59 intronic rs12987219 PNKD AD NM_001077399 exon3 c.2412+6479G>A 0.329872 0.379 Uncertain 2_219144230_A->T 2 219144230 219144230 A T snp 44.77 0/1 31 3 1 2 0.67 intronic rs4674282 PNKD AD NM_001077399 exon3 c.2412+6560A>T 0.327077 0.376 Uncertain 2_219144815_T->C 2 219144815 219144815 T C snp 5178.77 1/1 99 197 0 197 1.0 exonic rs2045435 TMBIM1 AU synonymous SNV NM_022152 exon3 c.A237G p.A79A 0.993411 1 0.996309 0.9987 1 Uncertain 2_219146607_T->C 2 219146607 219146607 T C snp 803.77 0/1 99 43 17 26 0.6 intronic rs7585702 PNKD AD NM_001077399 exon3 c.2412+8937T>C 0.327476 0.376 Uncertain 2_219146803_G->A 2 219146803 219146803 G A snp 149.77 0/1 99 16 10 6 0.38 exonic rs2292553 TMBIM1 AU nonsynonymous SNV NM_022152 exon2 c.C62T p.P21L 0.449481 0.6161 0.410538 0.5587 0.6211 0.61 T 0.000 P -0.929 T 0.001 T 0.0 T Pathogenic 2_219146868_T->C 2 219146868 219146868 T C snp 74.77 0/1 99 9 5 4 0.44 UTR5 rs2292554 TMBIM1 AU 0.334864 0.379 0.359166 0.4028 0.4026 Uncertain 2_219153982_T->C 2 219153982 219153982 T C snp 180.77 0/1 99 19 12 7 0.37 intronic rs34353396 PNKD AD NM_001077399 exon3 c.2412+16312T>C 0.327676 0.376 Uncertain 2_219153984_A->- 2 219153984 219153984 A - indel 726.73 1/1 54 18 0 18 1.0 intronic rs10707182 PNKD AD NM_001077399 exon3 c.2412+16314delA 0.97524 1 Uncertain 2_219206486_G->A 2 219206486 219206486 G A snp 266.77 0/1 99 44 28 16 0.36 ncRNA_intronic rs3816561 CATIP-AS2 AU 0.00758786 0.0377 Uncertain 2_219206566_C->T 2 219206566 219206566 C T snp 215.77 0/1 99 13 6 7 0.54 ncRNA_intronic rs2290709 CATIP-AS2 AU 0.00898562 0.0377 Uncertain 2_219206919_C->T 2 219206919 219206919 C T snp 404.77 0/1 99 39 24 15 0.38 ncRNA_intronic rs3816562 CATIP-AS2 AU 0.480032 0.6419 0.419120 0.5342 0.6388 Uncertain 2_219208477_C->G 2 219208477 219208477 C G snp 40.77 0/1 69 5 3 2 0.4 ncRNA_intronic rs2279016 CATIP-AS2 AU 0.0972444 0.0437 Uncertain 2_219209393_A->G 2 219209393 219209393 A G snp 1371.77 1/1 99 39 0 39 1.0 ncRNA_intronic rs1350336 CATIP-AS2 AU 0.990216 1 Uncertain 2_219227756_T->C 2 219227756 219227756 T C snp 1097.77 1/1 81 32 0 32 1.0 intronic rs6723716 CATIP AU NM_198559 exon6 c.6018+131T>C 0.495407 0.6677 Uncertain 2_219229289_G->T 2 219229289 219229289 G T snp 1663.77 0/1 99 126 52 74 0.59 intronic rs117624615 CATIP AU NM_198559 exon7 c.7743-61G>T 0.00858626 0.0377 Uncertain 2_219231807_C->T 2 219231807 219231807 C T snp 2535.77 1/1 99 92 0 92 1.0 exonic rs3845833 CATIP AU synonymous SNV NM_198559 exon8 c.C816T p.P272P 0.993211 1 0.996848 0.9986 1 Uncertain 2_219232354_C->A 2 219232354 219232354 C A snp 944.77 0/1 99 78 41 37 0.47 ncRNA_exonic rs7608923 CATIP-AS1 AU 0.531749 0.7103 Uncertain 2_219251865_G->A 2 219251865 219251865 G A snp 1112.77 0/1 99 80 34 46 0.57 intronic rs3731864 SLC11A1 AU NM_000578 exon6 c.4791-17G>A 0.00738818 0.0357 0.0025 0.0333 Uncertain 2_219254622_A->G 2 219254622 219254622 A G snp 4862.77 1/1 99 173 0 173 1.0 exonic rs2695342 SLC11A1 AU synonymous SNV NM_000578 exon9 c.A825G p.A275A 0.984625 1 0.987083 0.9956 1 Uncertain 2_219257688_T->C 2 219257688 219257688 T C snp 2183.77 1/1 99 80 0 80 1.0 intronic rs2045433 SLC11A1 AU NM_000578 exon12 c.10612-15T>C 0.986821 1 0.991081 0.9966 1 Uncertain 2_219259270_G->A 2 219259270 219259270 G A snp 1365.77 0/1 99 102 47 55 0.54 intronic rs2279015 SLC11A1 AU NM_000578 exon14 c.12263-84G>A 0.475839 0.2688 Uncertain 2_219259732_G->A 2 219259732 219259732 G A snp 462.77 0/1 99 54 32 22 0.41 exonic rs17235409 SLC11A1 AU nonsynonymous SNV NM_000578 exon15 c.G1627A p.D543N 0.0714856 0.1399 0.032754 0.0626 0.1754 0.09 T 0.0 P -0.991 T 0.177 T 0.066 T CLINSIG=other;CLNDBN=Buruli_ulcer\x2c_susceptibility_to;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000009814.1;CLNDSDB=MedGen:OMIM;CLNDSDBID=C1864868:610446 ID=CM068088;DIS=Pulmonary tuberculosis, increased risk, association with;TAG=DP;PUB=16466030 DP Pathogenic 2_219259844_A->G 2 219259844 219259844 A G snp 40.77 0/1 33 3 1 2 0.67 UTR3 rs1059823 SLC11A1 AU 0.482029 0.2808 Uncertain 2_219263277_A->G 2 219263277 219263277 A G snp 577.77 1/1 45 16 0 16 1.0 intronic rs2695344 CTDSP1 AU NM_001206878 exon1 c.67+75A>G 0.978634 1 Uncertain 2_219265094_T->C 2 219265094 219265094 T C snp 4064.77 1/1 99 163 0 163 1.0 intronic rs2579958 CTDSP1 AU NM_182642 exon1 c.67+214T>C 0.979034 1 0.9971 1 0.000 P -1.030 T Uncertain 2_219265136_-->C 2 219265136 219265136 - C indel 6552.73 1/1 99 161 0 161 1.0 intronic rs11463820 CTDSP1 AU NM_182642 exon1 c.67+256insC 1 1 1 1 Uncertain 2_219265168_T->C 2 219265168 219265168 T C snp 1212.77 0/1 99 122 71 51 0.42 intronic rs3795982 CTDSP1 AU NM_182642 exon1 c.67+288T>C 0.11242 0.2123 Uncertain 2_219265396_C->T 2 219265396 219265396 C T snp 1755.77 0/1 99 169 87 82 0.49 intronic rs3795985 CTDSP1 AU NM_182642 exon1 c.67+516C>T 0.112021 0.2123 0.1456 0.2202 Uncertain 2_219265677_G->C 2 219265677 219265677 G C snp 591.77 0/1 99 42 19 23 0.55 intronic rs115254818 CTDSP1 AU NM_182642 exon2 c.1473-609G>C 0.11262 0.2123 0.1028 0.2010 0.000 P Uncertain 2_219266108_C->G 2 219266108 219266108 C G snp 96.28 1/1 9 3 0 3 1.0 intronic rs2607726 CTDSP1 AU NM_182642 exon2 c.1473-178C>G 0.979034 1 Uncertain 2_219266204_T->C 2 219266204 219266204 T C snp 887.77 0/1 99 82 46 36 0.44 intronic rs2252235 CTDSP1 AU NM_182642 exon2 c.1473-82T>C 0.55012 0.7034 Uncertain 2_219267781_C->T 2 219267781 219267781 C T snp 1716.77 0/1 99 174 103 71 0.41 exonic rs2227255 CTDSP1 AU synonymous SNV NM_001206878 exon5 c.C399T p.H133H 0.465455 0.6915 0.449408 0.5651 0.6953 1.000 P -0.983 T Likely benign 2_219267913_A->G 2 219267913 219267913 A G snp 2748.77 0/1 99 237 126 111 0.47 intronic rs2227258 CTDSP1 AU NM_182642 exon6 c.3141-41A>G 0.553315 0.6994 0.536137 0.5945 0.6985 Uncertain 2_219268803_G->A 2 219268803 219268803 G A snp 83.77 0/1 30 5 2 3 0.6 intronic rs2579959 CTDSP1 AU NM_182642 exon7 c.4206-216G>A 0.550519 0.6984 Uncertain 2_219288382_A->G 2 219288382 219288382 A G snp 1633.77 1/1 99 47 1 46 0.98 intronic rs4672893 VIL1 AU 0.948682 1 Uncertain 2_219292595_C->T 2 219292595 219292595 C T snp 635.77 0/1 99 54 30 24 0.44 intronic rs34906275 VIL1 AU NM_007127 exon5 c.4186-92C>T 0.0678914 0.1349 Uncertain 2_219295835_G->A 2 219295835 219295835 G A snp 1089.77 0/1 99 81 38 43 0.53 intronic rs4674307 VIL1 AU NM_007127 exon10 c.7100+234G>A 0.504792 0.7708 Uncertain 2_219305404_G->C 2 219305404 219305404 G C snp 864.77 0/1 99 86 49 37 0.43 intronic rs2305833 VIL1 AU NM_007127 exon19 c.16943-40G>C 0.503794 0.7698 0.434876 0.5648 0.7553 Uncertain 2_219314100_T->C 2 219314100 219314100 T C snp 1263.77 0/1 99 109 50 59 0.54 UTR3 rs150415916 VIL1 AU 0.00419329 0.0069 0.000308 0.0036 0.0058 Uncertain 2_219319657_A->G 2 219319657 219319657 A G snp 2667.77 1/1 99 99 0 99 1.0 exonic rs6436058 USP37 AU nonsynonymous SNV NM_020935 exon26 c.T2936C p.L979S 0.983826 1 0.989466 0.9967 1 0 D 0.000 P -0.982 T 0.0 T 0.001 T Pathogenic 2_219320207_C->A 2 219320207 219320207 C A snp 406.77 1/1 33 12 0 12 1.0 intronic rs3932856 USP37 AU NM_020935 exon2 c.650-95C>A 0.662141 0.7827 Uncertain 2_219320234_AAA->- 2 219320234 219320236 AAA - indel 747.73 1/1 57 19 0 19 1.0 intronic rs139275139 USP37 AU NM_020935 exon2 c.650-68_650-66delAAA 0.427117 0.5337 Uncertain 2_219321693_A->- 2 219321693 219321693 A - indel 681.73 1/1 75 26 0 26 1.0 intronic rs397987861 USP37 AU NM_020935 exon3 c.2162-121delA 0.710663 0.9018 Uncertain 2_219339283_T->C 2 219339283 219339283 T C snp 2290.77 1/1 99 65 0 65 1.0 intronic rs549026 USP37 AU NM_020935 exon7 c.19700-69T>C 0.736821 0.9048 Uncertain 2_219350359_AAAA->- 2 219350359 219350362 AAAA - indel 623.73 1/1 51 19 0 19 1.0 intronic rs548632437 USP37 AU NM_020935 exon11 c.30734-27_30734-24delAAAA 0.1843 0.1682 Uncertain 2_219353195_C->T 2 219353195 219353195 C T snp 2101.77 1/1 99 69 0 69 1.0 intronic rs10932782 USP37 AU NM_020935 exon12 c.33492+51C>T 0.73722 0.9048 0.655620 0.6612 0.8817 Uncertain 2_219433597_G->A 2 219433597 219433597 G A snp 2157.77 1/1 99 59 0 59 1.0 UTR5 rs526897 RQCD1 AU 0.736821 0.9048 0.642212 Uncertain 2_219433888_C->A 2 219433888 219433888 C A snp 2147.77 1/1 99 68 0 68 1.0 intronic rs689116 RQCD1 AU NM_005444 exon1 c.24+187C>A 0.508387 0.7837 Uncertain 2_219445861_AA->- 2 219445861 219445862 AA - indel 1519.73 1/1 90 40 0 40 1.0 intronic rs34214861 RQCD1 AU NM_005444 exon2 c.11786+398_11786+399delAA Uncertain 2_219447912_A->G 2 219447912 219447912 A G snp 3132.77 1/1 99 98 0 98 1.0 intronic rs2952825 RQCD1 AU NM_005444 exon3 c.14132+103A>G 0.989816 0.997 Uncertain 2_219447953_TGTGTCTCTCTCTCTCTCTCTCTCTCTCTC->- 2 219447953 219447982 TGTGTCTCTCTCTCTCTCTCTCTCTCTCTC - indel 1901.73 1/1 74 35 0 35 1.0 intronic RQCD1 AU NM_005444 exon3 c.14132+144_14132+173delTGTGTCTCTCTCTCTCTCTCTCTCTCTCTC Uncertain 2_219458656_T->C 2 219458656 219458656 T C snp 139.03 1/1 12 4 0 4 1.0 intronic rs538483 RQCD1 AU NM_001271635 exon8 c.24901+78T>C 0.662939 0.7837 Uncertain 2_219480804_G->C 2 219480804 219480804 G C snp 3846.77 1/1 99 136 0 136 1.0 intronic rs485765 PLCD4 AU NM_032726 exon3 c.323+19G>C 0.59385 0.7827 0.538779 0.5955 0.7662 Uncertain 2_219487299_A->T 2 219487299 219487299 A T snp 220.84 1/1 18 7 0 7 1.0 intronic rs1850169 PLCD4 AU NM_032726 exon6 c.6907-70A>T 0.511182 0.7817 Uncertain 2_219492924_T->C 2 219492924 219492924 T C snp 6090.77 1/1 99 227 0 227 1.0 exonic rs612874 PLCD4 AU synonymous SNV NM_032726 exon7 c.T945C p.C315C 0.508986 0.7827 0.436213 0.5704 0.7696 Uncertain 2_219498759_T->G 2 219498759 219498759 T G snp 2647.77 1/1 99 94 0 94 1.0 intronic rs7574429 PLCD4 AU NM_032726 exon12 c.18365-68T>G 0.765375 0.9444 Uncertain 2_219501133_G->A 2 219501133 219501133 G A snp 6634.77 1/1 99 250 0 250 1.0 intronic rs2278530 PLCD4 AU NM_032726 exon15 c.20653+18G>A 0.608027 0.8214 0.556303 0.6018 0.8223 Uncertain 2_219501328_G->A 2 219501328 219501328 G A snp 1164.77 1/1 84 38 0 38 1.0 UTR3 rs1055816 PLCD4 AU 0.516773 0.8214 0.438774 0.5815 0.8245 Uncertain 2_219508988_T->C 2 219508988 219508988 T C snp 3587.77 1/1 99 122 0 122 1.0 exonic rs3770214 ZNF142 AU nonsynonymous SNV NM_001105537 exon8 c.A2251G p.S751G 0.764776 0.9425 0.676183 0.6711 0.9366 0.63 T 0.0 P -1.051 T 0.0 T 0.0 T Pathogenic 2_219509618_C->A 2 219509618 219509618 C A snp 4622.77 1/1 99 161 0 161 1.0 exonic rs2230115 ZNF142 AU nonsynonymous SNV NM_001105537 exon8 c.G1621T p.A541S 0.516374 0.8194 0.438928 0.5741 0.8216 0.55 T 0.0 P -1.162 T 0.732 T 0.505 P Pathogenic 2_219517088_T->C 2 219517088 219517088 T C snp 1374.77 1/1 99 48 0 48 1.0 intronic rs4674323 ZNF142 AU NM_001105537 exon6 c.12188+1839T>C 0.517173 0.8214 Uncertain 2_219525582_A->G 2 219525582 219525582 A G snp 764.77 1/1 57 23 0 23 1.0 intronic rs6722185 BCS1L AR,AO,AU 0.983826 1 Uncertain 2_219529731_C->T 2 219529731 219529731 C T snp 846.77 0/1 99 60 27 33 0.55 intronic rs185651202 RNF25 AU NM_022453 exon2 c.917+135C>T 0.000399361 Uncertain 2_219563504_C->T 2 219563504 219563504 C T snp 7222.77 1/1 99 250 0 250 1.0 exonic rs55654526 STK36 AU synonymous SNV NM_001243313 exon26 c.C3174T p.S1058S 0.0271565 0.0833 0.001153 0.0181 0.0904 1 D -1.133 T Likely benign 2_219691566_A->G 2 219691566 219691566 A G snp 283.77 0/1 99 23 12 11 0.48 intronic rs1467320 PRKAG3 AU NM_017431 exon5 c.3166-84A>G 0.825879 0.5982 Uncertain 2_219692527_-->C 2 219692527 219692527 - C indel 2047.73 1/1 99 53 0 53 1.0 intronic rs11385903 PRKAG3 AU NM_017431 exon8 c.4071-28insC 1 1 1.0000 0.9999 Uncertain 2_219692696_G->C 2 219692696 219692696 G C snp 812.77 0/1 99 97 57 40 0.41 intronic rs1722196 PRKAG3 AU NM_017431 exon9 c.4242-30G>C 0.163139 0.3998 0.121326 0.2223 0.4687 Uncertain 2_219692790_-->G 2 219692790 219692790 - G indel 2438.73 1/1 99 66 0 66 1.0 splicing rs397695556 PRKAG3 AU NM_017431 exon9 c.4301+5insG 0.998403 1 0.999596 1 1 Pathogenic 2_219695487_G->C 2 219695487 219695487 G C snp 260.77 0/1 99 18 8 10 0.56 exonic rs692243 PRKAG3 AU nonsynonymous SNV NM_017431 exon3 c.C211G p.P71A 0.18131 0.4018 0.145856 0.1784 0.4291 0.46 T 0.0 P -1.022 T 0.993 D 0.778 D Pathogenic 2_219696014_G->A 2 219696014 219696014 G A snp 1194.77 1/1 87 41 0 41 1.0 intronic rs650898 PRKAG3 AU NM_017431 exon13 c.7574-44G>A 0.955072 0.997 0.937558 0.9249 0.9988 Uncertain 2_219846328_C->A 2 219846328 219846328 C A snp 506.77 0/1 99 43 20 23 0.53 UTR3 rs2301296 FEV AU 0.156749 0.1379 Uncertain 2_219846749_G->A 2 219846749 219846749 G A snp 2284.77 0/1 99 203 109 94 0.46 exonic rs860573 FEV AU synonymous SNV NM_017521 exon3 c.C357T p.G119G 0.144968 0.1379 0.079117 0.0606 0.1436 Uncertain 2_219847015_G->C 2 219847015 219847015 G C snp 604.77 0/1 99 46 23 23 0.5 intronic rs452985 FEV AU NM_017521 exon1 c.590+37G>C 0.102835 0.1161 0.026547 0.0947 0.1688 Uncertain 2_219878756_G->A 2 219878756 219878756 G A snp 1557.77 0/1 99 145 78 67 0.46 exonic rs9967806 CCDC108 AU nonsynonymous SNV NM_194302 exon22 c.C3613T p.L1205F 0.221446 0.0843 0.201599 0.0941 0.0811 1 T 1.0 P -0.959 T 0.0 T 0.0 T Pathogenic 2_219884464_C->G 2 219884464 219884464 C G snp 863.77 0/1 99 51 16 35 0.69 intronic rs73090806 CCDC108 AU NM_194302 exon16 c.16783+23C>G 0.132588 0.2341 0.101605 0.1199 0.2594 Uncertain 2_219884484_A->G 2 219884484 219884484 A G snp 705.77 0/1 99 38 12 26 0.68 intronic rs12464687 CCDC108 AU NM_194302 exon16 c.16783+43A>G 0.200479 0.2361 0.166434 0.1355 0.2543 Uncertain 2_219888259_A->G 2 219888259 219888259 A G snp 324.77 0/1 99 21 10 11 0.52 intronic rs11891205 CCDC108 AU NM_194302 exon20 c.20495+106A>G 0.195887 0.1677 Uncertain 2_219890979_T->C 2 219890979 219890979 T C snp 349.77 0/1 99 21 7 14 0.67 intronic rs7560948 CCDC108 AU NM_194302 exon22 c.23223+98T>C 0.211262 0.1845 Uncertain 2_219892426_C->T 2 219892426 219892426 C T snp 3169.77 0/1 99 249 126 123 0.49 exonic rs140322077 CCDC108 AU synonymous SNV NM_001278296 exon12 c.G1962A p.P654P 0.000399361 0.000231 0.0002 0.0003 Uncertain 2_219894572_C->T 2 219894572 219894572 C T snp 83.77 0/1 30 4 1 3 0.75 intronic rs55946465 CCDC108 AU NM_001278296 exon4 c.2513-135C>T 0.213059 0.1746 Uncertain 2_219895315_A->G 2 219895315 219895315 A G snp 361.77 0/1 99 22 11 11 0.5 intronic rs7588702 CCDC108 AU NM_001278296 exon5 c.3216-95A>G 0.215655 0.1736 Uncertain 2_219895548_C->A 2 219895548 219895548 C A snp 2322.77 0/1 99 189 89 100 0.53 exonic rs56411706 CCDC108 AU nonsynonymous SNV NM_001278296 exon8 c.G829T p.A277S 0.171326 0.1726 0.160157 0.1212 0.1626 0.38 T 1.0 P -0.871 T 0.677 T 0.355 P Pathogenic 2_219895588_C->T 2 219895588 219895588 C T snp 1555.77 0/1 99 129 58 71 0.55 intronic rs56068521 CCDC108 AU NM_001278296 exon5 c.3362+32C>T 0.192292 0.1736 0.177149 0.1307 0.1618 Uncertain 2_219900068_C->T 2 219900068 219900068 C T snp 1019.77 0/1 99 95 50 45 0.47 exonic rs17852959 CCDC108 AU nonsynonymous SNV NM_152389 exon4 c.G481A p.V161M 0.091254 0.1597 0.075257 0.1583 0.2797 0.5 T 0.0 P -1.123 T 1.0 D 0.954 D Pathogenic 2_219903258_T->G 2 219903258 219903258 T G snp 1313.77 0/1 99 91 37 54 0.59 exonic rs6736922 CCDC108 AU nonsynonymous SNV NM_001278296 exon3 c.A1C p.M1L 0.589457 0.4256 0.696217 0.6993 0.4350 0.93 T 0.0 P -0.943 T 0.0 T 0.0 T Pathogenic 2_219903723_C->T 2 219903723 219903723 C T snp 639.77 0/1 99 59 30 29 0.49 exonic rs4674354 CCDC108 AU synonymous SNV NM_194302 exon3 c.G48A p.V16V 0.585463 0.4266 0.692296 0.6978 0.4364 Uncertain 2_219905247_T->C 2 219905247 219905247 T C snp 1293.77 0/1 99 114 55 59 0.52 exonic rs3736403 CCDC108 AU nonsynonymous SNV NM_001278295 exon2 c.A65G p.N22S 0.114217 0.1587 0.0999 0.142 0 D 0.0 P -1.050 T 0.0 T 0.0 T Pathogenic 2_219920037_A->G 2 219920037 219920037 A G snp 1971.77 0/1 99 190 104 86 0.45 exonic rs394452 IHH AR,AD synonymous SNV NM_002181 exon3 c.T1128C p.T376T 0.886182 0.9157 0.851453 0.8358 0.9134 Uncertain 2_219920565_C->T 2 219920565 219920565 C T snp 1523.77 0/1 99 98 38 60 0.61 exonic rs3731878 IHH AR,AD synonymous SNV NM_002181 exon3 c.G600A p.T200T 0.110024 0.1617 0.084026 0.1043 0.1503 Uncertain 2_219941063_G->A 2 219941063 219941063 G A snp 741.77 0/1 99 66 37 29 0.44 UTR3 rs897477 NHEJ1 AU 0.638379 0.4375 0.740197 0.7109 0.4480 Uncertain 2_220022176_C->T 2 220022176 220022176 C T snp 423.77 1/1 33 11 0 11 1.0 intronic rs6436120 NHEJ1 AU NM_024782 exon6 c.81091-17C>T 0.902356 1 0.916346 0.9646 0.9995 Uncertain 2_220028900_A->G 2 220028900 220028900 A G snp 694.77 0/1 99 69 37 32 0.46 intronic rs6753739 SLC23A3 AU NM_144712 exon4 c.2324-54A>G 0.613818 0.4464 Uncertain 2_220034497_-->CA 2 220034497 220034497 - CA indel 3026.73 0/1 99 169 80 89 0.53 intronic rs142326026 SLC23A3 AU NM_144712 exon11 c.7914-47insCA 0.127596 0.0675 0.140007 0.1612 0.0583 Uncertain 2_220037393_A->G 2 220037393 220037393 A G snp 2829.77 1/1 99 113 1 112 0.99 exonic rs4674361 CNPPD1 AU nonsynonymous SNV NM_015680 exon8 c.T1148C p.L383P 0.995208 1 0.995617 0.9990 1 0.94 T 0.0 P -0.962 T 0.0 T 0.0 T Pathogenic 2_220037608_A->C 2 220037608 220037608 A C snp 546.77 0/1 99 44 22 22 0.5 exonic rs151183191 CNPPD1 AU nonsynonymous SNV NM_015680 exon8 c.T933G p.S311R 0.0113818 0.0119 0.024454 0.0208 0.0121 0.04 T 0.991 D -1.142 T 0.965 D 0.656 D Pathogenic 2_220039996_G->A 2 220039996 220039996 G A snp 43.77 0/1 70 4 2 2 0.5 intronic rs7597160 CNPPD1 AU NM_015680 exon5 c.2523+166G>A 0.0277556 0.0119 Uncertain 2_220041429_AGGCCGGGAGGGGCGCGCCGGG->- 2 220041429 220041450 AGGCCGGGAGGGGCGCGCCGGG - indel 3597.73 0/1 99 42 25 17 0.4 intronic rs200450802 CNPPD1 AU NM_015680 exon8 c.4174-52_4174-31delAGGCCGGGAGGGGCGCGCCGGG Uncertain 2_220041455_C->T 2 220041455 220041455 C T snp 1162.77 0/1 99 70 25 45 0.64 intronic rs6436125 CNPPD1 AU NM_015680 exon8 c.4174-26C>T 0.702676 0.4613 0.854758 0.8804 0.6261 Uncertain 2_220043512_TC->- 2 220043512 220043513 TC - indel 669.73 0/1 99 28 12 16 0.57 intronic rs148389515 FAM134A AU NM_024293 exon2 c.569-131_569-130delTC 0.0716853 0.0119 Uncertain 2_220045035_G->A 2 220045035 220045035 G A snp 604.77 0/1 99 45 20 25 0.56 intronic rs7577690 FAM134A AU NM_024293 exon4 c.1893+68G>A 0.217851 0.2252 Uncertain 2_220045902_C->T 2 220045902 220045902 C T snp 759.77 0/1 99 74 39 35 0.47 exonic rs2293073 FAM134A AU synonymous SNV NM_024293 exon6 c.C759T p.A253A 0.0605032 0.0109 0.073351 0.0323 0.0116 Uncertain 2_220071803_C->G 2 220071803 220071803 C G snp 1292.77 1/1 96 44 0 44 1.0 intronic rs6714820 ZFAND2B AU NM_001270998 exon2 c.55+39C>G 0.73762 0.8631 0.774373 0.8652 0.8618 Uncertain 2_220071880_G->- 2 220071880 220071880 G - indel 745.73 1/1 75 26 0 26 1.0 intronic rs66491679 ZFAND2B AU NM_001270998 exon2 c.55+116delG Uncertain 2_220072766_G->T 2 220072766 220072766 G T snp 1194.77 1/1 87 41 0 41 1.0 splicing rs4674366 ZFAND2B AU NM_001270998 exon5 c.1051+6G>T 0.986222 1 0.985310 0.9956 1 Pathogenic 2_220078496_T->C 2 220078496 220078496 T C snp 3217.75 1/1 99 114 0 114 1.0 intronic rs2139823 ABCB6 AU,AD NM_005689 exon11 c.3888-51T>C 0.971046 1 0.977503 Uncertain 2_220083279_C->T 2 220083279 220083279 C T snp 3546.77 1/1 99 133 0 133 1.0 exonic rs1109866 ABCB6 AU,AD synonymous SNV NM_005689 exon1 c.G117A p.L39L 0.738019 0.8621 0.760009 0.8492 0.8419 Uncertain 2_220083453_G->T 2 220083453 220083453 G T snp 99.28 1/1 9 3 0 3 1.0 UTR5 rs1109867 ABCB6 AU,AD 0.738019 0.8621 Uncertain 2_220085845_A->G 2 220085845 220085845 A G snp 5158.77 1/1 99 189 0 189 1.0 exonic rs2276633 ATG9A AU synonymous SNV NM_024085 exon13 c.T2325C p.T775T 0.869409 0.9077 0.893471 0.9505 0.8858 Uncertain 2_220088248_A->G 2 220088248 220088248 A G snp 861.77 1/1 63 28 0 28 1.0 intronic rs908196 ATG9A AU NM_024085 exon7 c.3138-58A>G 0.736022 0.8621 Uncertain 2_220089590_-->G 2 220089590 220089590 - G indel 1679.73 1/1 99 47 0 47 1.0 intronic rs3216709 ATG9A AU NM_024085 exon9 c.4408+14insG 0.729034 0.8621 0.747756 0.8363 0.8421 Uncertain 2_220089685_G->C 2 220089685 220089685 G C snp 824.77 1/1 60 24 0 24 1.0 intronic rs2276637 ATG9A AU NM_024085 exon10 c.4624-107G>C 0.847644 0.9077 Uncertain 2_220113242_T->G 2 220113242 220113242 T G snp 6932.77 1/1 99 237 0 237 1.0 exonic rs7601549 STK16 AU synonymous SNV NM_001008910 exon8 c.T879G p.L293L 0.971246 1 0.975712 0.9926 1 Uncertain 2_220117333_T->G 2 220117333 220117333 T G snp 347.78 1/1 27 9 0 9 1.0 intronic rs6712442 TUBA4A AD NM_001278552 exon3 c.1879+381T>G 0.738818 0.8651 Uncertain 2_220118531_G->C 2 220118531 220118531 G C snp 2019.77 1/1 99 78 0 78 1.0 ncRNA_intronic rs939574 TUBA4B AU 0.738618 0.8651 0.758414 0.8064 0.8092 Uncertain 2_220135208_C->T 2 220135208 220135208 C T snp 468.77 1/1 36 13 0 13 1.0 ncRNA_intronic rs2891733 TUBA4B AU 0.749002 0.87 Uncertain 2_220136155_T->C 2 220136155 220136155 T C snp 7465.77 1/1 99 250 0 250 1.0 ncRNA_exonic rs7594971 TUBA4B AU 0.987021 1 0.9962 1 Uncertain 2_220136371_T->C 2 220136371 220136371 T C snp 6809.77 1/1 99 222 0 222 1.0 ncRNA_exonic rs3731894 TUBA4B AU 0.877396 0.9534 0.8975 0.9611 Uncertain 2_220146609_-->G 2 220146609 220146609 - G indel 1274.73 1/1 93 33 0 33 1.0 intronic rs3832110 DNAJB2 AR NM_001039550 exon5 c.2105-51insG 0.520966 0.6925 0.355774 Uncertain 2_220155105_G->A 2 220155105 220155105 G A snp 846.77 0/1 99 58 24 34 0.59 intronic rs12472762 PTPRN AU NM_001199764 exon1 c.72+86G>A 0.161142 0.5437 Uncertain 2_220246218_T->C 2 220246218 220246218 T C snp 3374.77 1/1 99 134 0 134 1.0 intronic rs6436148 DNPEP AU NM_012100 exon4 c.7253-48T>C 0.907748 0.9246 0.929364 0.9708 0.9116 Uncertain 2_220249299_-->T 2 220249299 220249299 - T indel 1229.73 1/1 99 51 0 51 1.0 intronic rs397802699 DNPEP AU NM_012100 exon7 c.10152+134insT Uncertain 2_220249329_C->T 2 220249329 220249329 C T snp 602.77 1/1 45 18 0 18 1.0 intronic rs2002892 DNPEP AU NM_012100 exon7 c.10152+164C>T 0.876797 0.9246 Uncertain 2_220250147_A->G 2 220250147 220250147 A G snp 3059.77 1/1 99 111 0 111 1.0 exonic rs907679 DNPEP AU nonsynonymous SNV NM_012100 exon8 c.T773C p.V258A 1 1 0.999919 1.0000 1 0.74 T 0.000 P -0.955 T 0.0 T 0.0 T Pathogenic 2_220250322_C->A 2 220250322 220250322 C A snp 2934.77 1/1 99 101 0 101 1.0 intronic rs878437 DNPEP AU NM_012100 exon9 c.11339-30C>A 0.871206 0.9246 0.892584 0.9545 0.9110 Uncertain 2_220250826_G->A 2 220250826 220250826 G A snp 2137.77 1/1 99 70 0 70 1.0 splicing rs2271456 DNPEP AU NM_012100 exon10 c.11807+6G>A 0.843051 0.9246 0.858808 0.9448 0.9117 Pathogenic 2_220250898_G->- 2 220250898 220250898 G - indel 769.73 1/1 60 21 0 21 1.0 intronic rs11352428 DNPEP AU NM_012100 exon10 c.11807+78delG 0.918131 1 Uncertain 2_220251178_T->C 2 220251178 220251178 T C snp 3645.77 1/1 99 128 0 128 1.0 intronic rs2271457 DNPEP AU NM_012100 exon11 c.12120+45T>C 0.877196 0.9246 0.898044 0.9559 0.9116 Uncertain 2_220251208_T->C 2 220251208 220251208 T C snp 2826.77 1/1 99 98 0 98 1.0 intronic rs1040009 DNPEP AU NM_012100 exon11 c.12120+75T>C 0.507388 0.6756 Uncertain 2_220252288_TCG->- 2 220252288 220252290 TCG - indel 1986.73 1/1 96 32 0 32 1.0 intronic rs138394024 DNPEP AU NM_012100 exon15 c.13467-192_13467-190delTCG 0.877995 0.9246 Uncertain 2_220252662_T->G 2 220252662 220252662 T G snp 50.74 1/1 6 2 0 2 1.0 UTR5 rs62193999 DNPEP AU 0.890974 0.9256 Uncertain 2_220264412_A->G 2 220264412 220264412 A G snp 1412.77 1/1 99 47 0 47 1.0 intergenic rs13018645 DNPEP AU 0.491613 0.6478 Uncertain 2_220264543_-->AT 2 220264543 220264543 - AT indel 6089.73 1/1 99 111 0 111 1.0 intergenic rs58721028 DNPEP AU 0.980431 1 0.9957 1 Uncertain 2_220283259_A->G 2 220283259 220283259 A G snp 3000.77 1/1 99 106 0 106 1.0 exonic rs1318299 DES AR,AD,AU synonymous SNV NM_001927 exon1 c.A75G p.P25P 0.886182 0.999 0.897233 0.9652 0.9996 CLINSIG=non-pathogenic,non-pathogenic|non-pathogenic|non-pathogenic;CLNDBN=not_specified,Cardiomyopathy|not_specified|not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter,criteria_provided\x2c_single_submitter|criteria_provided\x2c_multiple_submitters\x2c_no_conflicts|criteria_provided\x2c_single_submitter;CLNACC=RCV000154433.1,RCV000029660.1|RCV000037251.6|RCV000124668.1;CLNDSDB=MedGen,MedGen:SNOMED_CT|MedGen|MedGen;CLNDSDBID=CN169374,C0878544:85898001|CN169374|CN221809 Uncertain 2_220283277_T->C 2 220283277 220283277 T C snp 3237.77 1/1 99 115 0 115 1.0 exonic rs2017800 DES AR,AD,AU synonymous SNV NM_001927 exon1 c.T93C p.S31S 0.866014 0.999 0.879394 0.9611 0.9998 CLINSIG=non-pathogenic,non-pathogenic|non-pathogenic|non-pathogenic;CLNDBN=not_specified,Cardiomyopathy|not_specified|not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter,criteria_provided\x2c_single_submitter|criteria_provided\x2c_multiple_submitters\x2c_no_conflicts|criteria_provided\x2c_single_submitter;CLNACC=RCV000154434.1,RCV000029661.1|RCV000037256.6|RCV000124669.1;CLNDSDB=MedGen,MedGen:SNOMED_CT|MedGen|MedGen;CLNDSDBID=CN169374,C0878544:85898001|CN169374|CN221809 Uncertain 2_220283826_T->G 2 220283826 220283826 T G snp 1831.77 1/1 99 70 0 70 1.0 intronic rs907677 DES AR,AD,AU NM_001927 exon1 c.578+64T>G 1 1 Uncertain 2_220284717_G->C 2 220284717 220284717 G C snp 478.77 1/1 36 13 0 13 1.0 intronic rs2666106 DES AR,AD,AU NM_001927 exon2 c.1632-99G>C 0.990615 1 Uncertain 2_220284779_C->T 2 220284779 220284779 C T snp 1864.77 1/1 99 63 0 63 1.0 intronic rs12991025 DES AR,AD,AU NM_001927 exon2 c.1632-37C>T 0.529353 0.8155 0.479625 0.6169 0.8116 Uncertain 2_220284938_C->T 2 220284938 220284938 C T snp 1244.77 0/1 99 118 60 58 0.49 intronic rs141013041 DES AR,AD,AU NM_001927 exon3 c.1788-34C>T 0.00519169 0.0248 0.0021 0.0201 Uncertain 2_220306413_G->T 2 220306413 220306413 G T snp 860.77 1/1 63 30 0 30 1.0 intronic rs4674398 SPEG AR NM_005876 exon2 c.9675-2961G>T 0.86222 0.9593 Uncertain 2_220308581_A->C 2 220308581 220308581 A C snp 523.77 1/1 39 14 0 14 1.0 intronic rs10932805 SPEG AR NM_005876 exon2 c.9675-793A>C 0.923522 0.9613 Uncertain 2_220316579_C->T 2 220316579 220316579 C T snp 1156.77 1/1 84 44 0 44 1.0 intronic rs4674399 SPEG AR NM_005876 exon6 c.16830+50C>T 0.955072 0.9603 0.979417 0.9733 0.9474 Uncertain 2_220330616_C->T 2 220330616 220330616 C T snp 915.77 1/1 69 27 0 27 1.0 intronic rs4399716 SPEG AR NM_001173476 exon5 c.4068-162C>T 0.355631 0.2847 Uncertain 2_220330645_GCGCGCGTGTGC->- 2 220330645 220330656 GCGCGCGTGTGC - indel 6226.73 1/1 99 55 0 55 1.0 intronic rs757335180 SPEG AR NM_001173476 exon5 c.4068-133_4068-122delGCGCGCGTGTGC Uncertain 2_220330661_A->G 2 220330661 220330661 A G snp 2052.77 1/1 99 61 0 61 1.0 intronic rs1976617 SPEG AR NM_001173476 exon5 c.4068-117A>G 0.767971 0.8234 Uncertain 2_220330668_C->T 2 220330668 220330668 C T snp 903.77 0/1 99 73 36 37 0.51 intronic SPEG AR NM_001173476 exon5 c.4068-110C>T Uncertain 2_220330976_C->A 2 220330976 220330976 C A snp 180.9 1/1 15 5 0 5 1.0 intronic rs4369848 SPEG AR NM_001173476 exon5 c.4068+198C>A 0.40595 0.2847 Uncertain 2_220333950_T->C 2 220333950 220333950 T C snp 5742.77 1/1 99 197 0 197 1.0 exonic rs10167209 SPEG AR synonymous SNV NM_005876 exon13 c.T3564C p.P1188P 0.983826 1 0.983899 0.9953 1 Uncertain 2_220336517_C->T 2 220336517 220336517 C T snp 487.77 0/1 99 31 14 17 0.55 intronic rs73991563 SPEG AR NM_005876 exon14 c.36890-72C>T 0.313698 0.1369 Uncertain 2_220336723_C->T 2 220336723 220336723 C T snp 1381.77 0/1 99 125 67 58 0.46 intronic rs73087210 SPEG AR NM_005876 exon14 c.37010+14C>T 0.175319 0.1071 0.159396 0.1307 0.0952 Uncertain 2_220337196_G->A 2 220337196 220337196 G A snp 254.77 0/1 99 21 11 10 0.48 intronic rs1039897 SPEG AR NM_005876 exon15 c.37354+143G>A 0.504593 0.7808 Uncertain 2_220346596_C->T 2 220346596 220346596 C T snp 116.77 0/1 99 8 4 4 0.5 intronic rs3731906 SPEG AR NM_005876 exon28 c.46703+194C>T 0.496805 0.7768 Uncertain 2_220348751_C->T 2 220348751 220348751 C T snp 1814.77 0/1 99 185 106 79 0.43 exonic rs10755037 SPEG AR nonsynonymous SNV NM_005876 exon30 c.C6566T p.P2189L 0.285543 0.1448 0.250840 0.2739 0.1474 0.08 T 0.000 P -1.039 T 0.0 T 0.0 T Pathogenic 2_220353104_A->G 2 220353104 220353104 A G snp 2990.77 1/1 99 86 0 86 1.0 intronic rs875097 SPEG AR NM_005876 exon32 c.53333+72A>G 0.497604 0.7679 Uncertain 2_220356806_C->T 2 220356806 220356806 C T snp 6288.77 1/1 99 225 0 225 1.0 intronic rs907146 SPEG AR NM_005876 exon40 c.57133-26C>T 0.962061 1 0.964314 0.9893 1 Uncertain 2_220361265_A->G 2 220361265 220361265 A G snp 481.77 1/1 36 14 0 14 1.0 intronic rs2385541 LOC100996693 AU NM_001286811 exon1 c.128+61A>G 0.940096 0.999 Uncertain 2_220361435_C->G 2 220361435 220361435 C G snp 52.74 1/1 6 2 0 2 1.0 intronic rs1567489 LOC100996693 AU NM_001286811 exon2 c.454-95C>G 0.940096 0.999 Uncertain 2_220362899_C->G 2 220362899 220362899 C G snp 6028.77 1/1 99 221 0 221 1.0 exonic rs2029251 LOC100996693 AU synonymous SNV NM_001286811 exon4 c.C705G p.V235V 0.90635 0.999 0.9781 1 1.000 P -1.005 T Likely benign 2_220366953_G->C 2 220366953 220366953 G C snp 1641.77 1/1 99 46 0 46 1.0 intronic rs2385539 GMPPA AR NM_013335 exon6 c.2406-150G>C 0.467652 0.7609 Uncertain 2_220371181_T->A 2 220371181 220371181 T A snp 1751.77 1/1 99 61 0 61 1.0 intronic rs10932808 GMPPA AR NM_013335 exon12 c.6447+37T>A 0.953674 1 0.954811 0.9871 1 Uncertain 2_220379560_C->G 2 220379560 220379560 C G snp 7036.77 1/1 99 250 0 250 1.0 exonic rs3731909 ASIC4 AU synonymous SNV NM_182847 exon1 c.C495G p.A165A 0.506989 0.7649 0.503999 0.5954 0.7679 Uncertain 2_220380125_G->A 2 220380125 220380125 G A snp 448.77 1/1 36 13 0 13 1.0 intronic rs1872858 ASIC4 AU NM_182847 exon1 c.963+97G>A 0.496006 0.7659 Uncertain 2_220397811_T->C 2 220397811 220397811 T C snp 1189.77 1/1 87 38 0 38 1.0 intronic rs6731344 ASIC4 AU NM_182847 exon4 c.18134+612T>C 0.948283 1 0.9854 1 Uncertain 2_220399951_A->G 2 220399951 220399951 A G snp 1287.77 0/1 99 113 58 55 0.49 exonic rs2276643 ASIC4 AU synonymous SNV NM_182847 exon5 c.A1458G p.T486T 0.258986 0.1468 0.279102 0.2273 0.1722 Uncertain 2_220400014_G->A 2 220400014 220400014 G A snp 1429.77 0/1 99 86 26 60 0.7 exonic rs12477394 ASIC4 AU synonymous SNV NM_182847 exon5 c.G1521A p.A507A 0.0904553 0.0635 0.084884 0.0343 0.0631 Uncertain 2_220400050_TG->- 2 220400050 220400051 TG - indel 1561.73 0/1 99 60 16 44 0.73 splicing rs144993868 ASIC4 AU NM_182847 exon5 c.20981+4_20981+5delTG 0.086262 0.0714 0.0383 0.0584 Pathogenic 2_220401732_G->A 2 220401732 220401732 G A snp 1561.77 0/1 99 133 68 65 0.49 intronic rs3770237 ASIC4 AU NM_182847 exon6 c.22722-55G>A 0.216653 0.1538 Uncertain 2_220401751_G->A 2 220401751 220401751 G A snp 1815.77 0/1 99 171 93 78 0.46 intronic rs2385538 ASIC4 AU NM_182847 exon6 c.22722-36G>A 0.363618 0.3085 0.440873 0.4264 0.3263 Uncertain 2_220402624_G->T 2 220402624 220402624 G T snp 522.77 0/1 99 36 15 21 0.58 intronic rs11689270 ASIC4 AU NM_182847 exon9 c.23589-30G>T 0.740016 0.8403 0.723912 0.7945 0.8359 Uncertain 2_220402671_G->T 2 220402671 220402671 G T snp 906.77 0/1 99 86 46 40 0.47 exonic rs11689281 ASIC4 AU nonsynonymous SNV NM_182847 exon9 c.G1847T p.R616L 0.542133 0.6706 0.462538 0.5599 0.6574 0.24 T 0.990 P -0.948 T 0.002 T 0.005 T Pathogenic 2_220402680_T->C 2 220402680 220402680 T C snp 1006.77 0/1 99 92 49 43 0.47 exonic rs11695248 ASIC4 AU nonsynonymous SNV NM_182847 exon9 c.T1856C p.V619A 0.611821 0.6706 0.540852 0.5797 0.6587 1 T 0.0 P -0.955 T 0.0 T 0.0 T Pathogenic 2_220404244_C->T 2 220404244 220404244 C T snp 1600.77 0/1 99 132 69 63 0.48 exonic rs76494878 CHPF AU nonsynonymous SNV NM_001195731 exon4 c.G1703A p.R568H 0.000399361 0.002 0.000461 0.0004 0.0010 0.23 T 0.646 N -1.004 T 0.0 T 0.004 T Pathogenic 2_220404381_A->G 2 220404381 220404381 A G snp 4792.77 1/1 99 174 0 174 1.0 exonic rs1976616 CHPF AU synonymous SNV NM_001195731 exon4 c.T1566C p.Y522Y 0.977037 1 0.978388 0.9934 1 Uncertain 2_220405321_T->C 2 220405321 220405321 T C snp 1685.77 0/1 99 169 93 76 0.45 exonic rs6436155 CHPF AU nonsynonymous SNV NM_001195731 exon4 c.A626G p.Q209R 0.961462 0.9385 0.977549 0.9857 0.9409 0.81 T 0.0 P -0.999 T 0.0 T 0.001 T Pathogenic 2_220406239_T->G 2 220406239 220406239 T G snp 730.77 0/1 99 55 20 35 0.64 intronic rs13004994 CHPF AU NM_024536 exon3 c.2233-98T>G 0.611422 0.6637 Uncertain 2_220406722_T->C 2 220406722 220406722 T C snp 2956.77 0/1 99 242 122 120 0.5 exonic rs3731912 CHPF AU synonymous SNV NM_001195731 exon2 c.A18G p.L6L 0.754792 0.7609 0.707358 0.7673 0.7839 Uncertain 2_220406944_G->A 2 220406944 220406944 G A snp 757.77 1/1 57 20 0 20 1.0 intronic rs7581251 CHPF AU NM_024536 exon3 c.2807+33G>A 0.969848 1 0.977589 0.9823 1 Uncertain 2_220409190_-->T 2 220409190 220409190 - T indel 1313.73 0/1 99 62 26 36 0.58 intronic rs151333814 TMEM198 AU 0.0091853 0.0298 Uncertain 2_220409701_C->T 2 220409701 220409701 C T snp 810.77 0/1 99 72 36 36 0.5 intronic rs10932811 TMEM198 AU NM_001303098 exon3 c.166+86C>T 0.336262 0.379 Uncertain 2_220412256_T->C 2 220412256 220412256 T C snp 2759.77 1/1 99 105 0 105 1.0 exonic rs8179770 TMEM198 AU synonymous SNV NM_001005209 exon3 c.T195C p.F65F 0.969249 1 0.971475 0.9905 1 Uncertain 2_220413659_A->- 2 220413659 220413659 A - indel 445.73 0/1 99 23 9 14 0.61 intronic rs56198734 TMEM198 AU NM_001303098 exon5 c.4424-214delA 0.22504 0.4177 Uncertain 2_220413661_C->T 2 220413661 220413661 C T snp 790.77 1/1 60 23 0 23 1.0 intronic rs12996466 TMEM198 AU NM_001303098 exon5 c.4424-212C>T 0.936901 1 Uncertain 2_220414016_C->T 2 220414016 220414016 C T snp 3742.77 1/1 99 144 2 142 0.99 exonic rs6436156 TMEM198 AU synonymous SNV NM_001005209 exon4 c.C885T p.D295D 0.934505 0.997 0.907182 0.9779 1 Uncertain 2_220414019_T->C 2 220414019 220414019 T C snp 1849.77 0/1 99 137 62 75 0.55 exonic rs13023533 TMEM198 AU synonymous SNV NM_001005209 exon4 c.T888C p.P296P 0.392372 0.38 0.173228 0.4339 0.4147 Uncertain 2_220415596_GA->- 2 220415596 220415597 GA - indel 1482.73 0/1 99 75 38 37 0.49 intronic rs146790993 OBSL1 AU NM_015311 exon1 c.8+32_8+33delGA 0.383986 0.38 0.438070 0.4172 0.3934 Uncertain 2_220415646_T->C 2 220415646 220415646 T C snp 698.77 0/1 99 55 24 31 0.56 intronic rs1043582 OBSL1 AU NM_015311 exon1 c.8+82T>C 0.384185 0.381 Uncertain 2_220415717_G->A 2 220415717 220415717 G A snp 288.77 0/1 99 22 11 11 0.5 intronic rs3731918 OBSL1 AU NM_015311 exon1 c.8+153G>A 0.532947 0.6181 Uncertain 2_220415752_C->T 2 220415752 220415752 C T snp 327.78 1/1 27 10 0 10 1.0 intronic rs6745782 OBSL1 AU NM_015311 exon1 c.8+188C>T 0.928714 0.999 Uncertain 2_220416164_T->C 2 220416164 220416164 T C snp 222.84 1/1 18 7 0 7 1.0 intronic rs6761575 OBSL1 AU NM_015311 exon2 c.694-86T>C 0.938898 0.999 Uncertain 2_220416570_C->T 2 220416570 220416570 C T snp 1223.77 1/1 87 45 0 45 1.0 intronic rs4672931 OBSL1 AU NM_015311 exon2 c.964+50C>T 0.928714 0.999 0.944576 0.9787 0.9999 Uncertain 2_220416591_C->T 2 220416591 220416591 C T snp 1236.77 1/1 90 44 0 44 1.0 intronic rs4672932 OBSL1 AU NM_015311 exon2 c.964+71C>T 0.928714 0.999 Uncertain 2_220416803_A->T 2 220416803 220416803 A T snp 4708.77 1/1 99 188 0 188 1.0 intronic rs4672933 OBSL1 AU NM_015311 exon3 c.1277-30A>T 0.978235 1 0.982029 0.9943 1 Uncertain 2_220416942_G->C 2 220416942 220416942 G C snp 1414.77 0/1 99 116 53 63 0.54 splicing rs34490902 OBSL1 AU NM_015311 exon3 c.1382+4G>C 0.38758 0.379 0.435332 0.4668 0.4512 Pathogenic 2_220416967_C->T 2 220416967 220416967 C T snp 839.77 0/1 99 67 35 32 0.48 intronic rs4672934 OBSL1 AU NM_015311 exon3 c.1382+29C>T 0.529153 0.62 0.453718 0.6161 0.6394 Uncertain 2_220417228_G->T 2 220417228 220417228 G T snp 723.77 0/1 99 55 21 34 0.62 intronic rs60549465 OBSL1 AU NM_015311 exon4 c.1701-29G>T 0.339058 0.3819 0.381115 0.4657 0.4424 Uncertain 2_220417266_C->T 2 220417266 220417266 C T snp 856.77 0/1 99 70 28 42 0.6 exonic rs59332477 OBSL1 AU nonsynonymous SNV NM_015311 exon18 c.G5300A p.R1767Q 0.376597 0.3819 0.420033 0.4683 0.4484 0.43 T 1.0 P -0.929 T 1.0 D 0.997 D Pathogenic 2_220419236_T->C 2 220419236 220419236 T C snp 2655.77 1/1 99 94 0 94 1.0 exonic rs10932813 OBSL1 AU synonymous SNV NM_015311 exon15 c.A4836G p.T1612T 0.985224 1 0.987749 0.9961 1 Uncertain 2_220419339_T->C 2 220419339 220419339 T C snp 2919.77 1/1 99 108 0 108 1.0 exonic rs10932814 OBSL1 AU nonsynonymous SNV NM_015311 exon15 c.A4733G p.Q1578R 0.961062 1 0.961385 0.9859 1 0.52 T 1.000 P -0.973 T 0.0 T 0.0 T Pathogenic 2_220419553_C->T 2 220419553 220419553 C T snp 72.77 0/1 99 7 4 3 0.43 intronic rs12617530 OBSL1 AU NM_015311 exon7 c.3906+91C>T 0.179712 0.2837 Uncertain 2_220420785_G->A 2 220420785 220420785 G A snp 3330.77 0/1 99 250 110 140 0.56 exonic rs3087971 OBSL1 AU synonymous SNV NM_015311 exon14 c.C4566T p.C1522C 0.229233 0.2837 0.259968 0.2548 0.2846 0 D 0.009 P -0.959 T Likely benign 2_220420956_A->G 2 220420956 220420956 A G snp 2361.77 1/1 99 66 0 66 1.0 exonic rs10932816 OBSL1 AU synonymous SNV NM_015311 exon14 c.T4395C p.D1465D 0.963658 1 0.969375 0.9901 0.9999 0.41 T 0.000 P -1.048 T Likely benign 2_220421417_C->G 2 220421417 220421417 C G snp 2174.77 0/1 99 190 101 89 0.47 exonic rs1983210 OBSL1 AU nonsynonymous SNV NM_015311 exon13 c.G4095C p.E1365D 0.724641 0.7163 0.701199 0.7461 0.7179 0.38 T 0.654 P -0.967 T 0.846 T 0.759 P Pathogenic 2_220421479_A->G 2 220421479 220421479 A G snp 1073.77 0/1 99 87 47 40 0.46 intronic rs13010015 OBSL1 AU NM_015311 exon9 c.5889+34A>G 0.233427 0.2827 0.252055 0.2801 0.3192 Uncertain 2_220422132_G->A 2 220422132 220422132 G A snp 860.77 0/1 99 71 33 38 0.54 exonic OBSL1 AU synonymous SNV NM_015311 exon12 c.C3999T p.S1333S Uncertain 2_220422400_C->G 2 220422400 220422400 C G snp 540.77 0/1 99 34 16 18 0.53 intronic rs2278200 OBSL1 AU NM_015311 exon10 c.6784+60C>G 0.408746 0.3839 Uncertain 2_220422774_A->G 2 220422774 220422774 A G snp 2678.77 0/1 99 225 112 113 0.5 exonic rs2278201 OBSL1 AU synonymous SNV NM_015311 exon11 c.T3561C p.P1187P 0.419129 0.3839 0.455834 0.4303 0.4095 1.000 P -0.969 T Likely benign 2_220427996_T->C 2 220427996 220427996 T C snp 899.77 1/1 66 25 0 25 1.0 intronic rs11904583 OBSL1 AU NM_015311 exon15 c.12520-80T>C 0.978035 1 Uncertain 2_220428381_A->T 2 220428381 220428381 A T snp 2919.77 0/1 99 241 118 123 0.51 intronic rs2303543 OBSL1 AU NM_015311 exon15 c.12793+32A>T 0.556709 0.6627 0.563219 0.6462 0.6880 Uncertain 2_220430203_C->T 2 220430203 220430203 C T snp 6800.77 1/1 99 241 0 241 1.0 exonic rs1039898 OBSL1 AU nonsynonymous SNV NM_015311 exon6 c.G2168A p.R723K 0.792732 0.9038 0.828228 0.8655 0.9110 1 T 0.0 P -0.957 T 0.0 T 0.001 T Pathogenic 2_220431919_A->G 2 220431919 220431919 A G snp 761.77 1/1 57 19 0 19 1.0 intronic rs4674412 OBSL1 AU NM_015311 exon17 c.16292+71A>G 0.979633 1 Uncertain 2_220432348_C->T 2 220432348 220432348 C T snp 784.77 0/1 99 80 50 30 0.38 intronic rs79510852 OBSL1 AU NM_015311 exon18 c.16741+51C>T 0.0183706 0.0675 Uncertain 2_220432709_A->T 2 220432709 220432709 A T snp 2626.77 0/1 99 250 146 104 0.42 intronic rs2292360 OBSL1 AU NM_015311 exon19 c.17135+18A>T 0.367812 0.5079 0.353697 0.4234 0.4955 Uncertain 2_220435034_A->G 2 220435034 220435034 A G snp 7763.77 1/1 99 250 0 250 1.0 exonic rs10180675 OBSL1 AU synonymous SNV NM_015311 exon1 c.T921C p.L307L 0.783347 0.9028 0.820849 0.8644 0.9105 Uncertain 2_220435375_G->A 2 220435375 220435375 G A snp 1215.77 0/1 99 118 66 52 0.44 exonic rs1061399 OBSL1 AU synonymous SNV NM_015311 exon1 c.C580T p.L194L 0.358826 0.5069 0.297448 0.4448 0.5 Uncertain 2_220437486_T->C 2 220437486 220437486 T C snp 622.77 0/1 99 56 30 26 0.46 intronic rs117544474 INHA AU NM_002191 exon1 c.268+122T>C 0.01877 0.0665 Uncertain 2_220462640_G->T 2 220462640 220462640 G T snp 5168.77 1/1 99 187 0 187 1.0 exonic rs681747 STK11IP AU nonsynonymous SNV NM_052902 exon1 c.G2T p.R1M 0.833267 0.9921 0.836647 0.9370 0.9963 0 D 0.001 P -1.034 T Pathogenic 2_220466199_G->T 2 220466199 220466199 G T snp 2249.77 1/1 99 82 0 82 1.0 intronic rs620698 STK11IP AU NM_052902 exon3 c.3524+37G>T 0.804712 0.9931 0.808231 0.9374 0.9964 Uncertain 2_220466344_-->T 2 220466344 220466344 - T indel 594.74 1/1 27 61 4 57 0.93 intronic rs11405075 STK11IP AU NM_052902 exon4 c.3724-18insT 0.591653 0.6905 0.5384 0.5443 Uncertain 2_220471116_C->G 2 220471116 220471116 C G snp 4180.77 1/1 99 150 0 150 1.0 intronic rs633200 STK11IP AU NM_052902 exon11 c.8559-81C>G 0.892372 0.9921 0.9524 0.9965 Uncertain 2_220473355_G->A 2 220473355 220473355 G A snp 2363.77 1/1 99 86 0 86 1.0 exonic rs673951 STK11IP AU nonsynonymous SNV NM_052902 exon15 c.G1687A p.V563I 0.350439 0.6825 0.251873 0.3671 0.6957 0.43 T 0.0 P -1.030 T 0.394 T 0.09 T Pathogenic 2_220476443_C->T 2 220476443 220476443 C T snp 7005.77 1/1 99 249 0 249 1.0 exonic rs627530 STK11IP AU nonsynonymous SNV NM_052902 exon18 c.C2255T p.S752F 0.839058 0.9921 0.839759 0.9376 0.9965 0.01 T 0.0 P -1.018 T 0.004 T 0.007 T Pathogenic 2_220476645_T->C 2 220476645 220476645 T C snp 4917.77 1/1 99 175 0 175 1.0 intronic rs581547 STK11IP AU NM_052902 exon19 c.14038-31T>C 0.867212 1 0.874581 0.9651 1 Uncertain 2_220479312_T->C 2 220479312 220479312 T C snp 2421.77 1/1 99 96 1 95 0.99 intronic rs624773 STK11IP AU NM_052902 exon23 c.16630+44T>C 0.979233 1 0.975987 0.9932 1 Uncertain 2_220480639_T->C 2 220480639 220480639 T C snp 1383.77 1/1 99 51 0 51 1.0 intronic rs640807 STK11IP AU NM_052902 exon25 c.18127-126T>C 0.986022 1 Uncertain 2_220480693_G->C 2 220480693 220480693 G C snp 1135.77 1/1 84 38 0 38 1.0 intronic rs665845 STK11IP AU NM_052902 exon25 c.18127-72G>C 0.970248 1 Uncertain 2_220494118_A->C 2 220494118 220494118 A C snp 1284.77 1/1 93 37 0 37 1.0 exonic rs597306 SLC4A3 AU nonsynonymous SNV NM_201574 exon4 c.A470C p.H157P 0.954673 1 0.949207 0.9838 0.9980 1 T 0.0 P -0.917 T 0.0 T 0.0 T Pathogenic 2_220495167_A->C 2 220495167 220495167 A C snp 673.77 1/1 51 18 0 18 1.0 intronic rs612078 SLC4A3 AU NM_005070 exon6 c.2360+93A>C 0.944888 0.9246 Uncertain 2_220500423_A->G 2 220500423 220500423 A G snp 3474.77 1/1 99 136 0 136 1.0 exonic rs589767 SLC4A3 AU synonymous SNV NM_201574 exon14 c.A2082G p.E694E 0.946885 1 0.948947 0.9846 1 Uncertain 2_220500426_A->G 2 220500426 220500426 A G snp 3413.77 1/1 99 134 0 134 1.0 exonic rs639214 SLC4A3 AU synonymous SNV NM_201574 exon14 c.A2085G p.A695A 0.90635 0.9921 0.895664 0.9636 0.9959 Uncertain 2_220502137_C->T 2 220502137 220502137 C T snp 518.77 1/1 39 14 0 14 1.0 intronic rs621515 SLC4A3 AU NM_005070 exon17 c.9588-165C>T 0.663339 0.8065 Uncertain 2_220502367_A->C 2 220502367 220502367 A C snp 5449.77 1/1 99 202 0 202 1.0 exonic rs635311 SLC4A3 AU nonsynonymous SNV NM_201574 exon17 c.A2681C p.D894A 0.677516 0.8065 0.676303 0.7442 0.8356 0.18 T 0.0 P -0.924 T 0.0 T 0.0 T ID=CM025961;DIS=Epilepsy, idiopathic generalised, association with;TAG=DFP;PUB=12399075 DFP Pathogenic 2_220505265_T->C 2 220505265 220505265 T C snp 6944.77 1/1 99 249 0 249 1.0 exonic rs684428 SLC4A3 AU synonymous SNV NM_201574 exon21 c.T3472C p.L1158L 0.690895 0.8105 0.715977 0.7946 0.8377 Uncertain 2_220586231_C->G 2 220586231 220586231 C G snp 37.77 0/1 66 4 2 2 0.5 intergenic rs9288551 SLC4A3 AU 0.53095 0.2679 Uncertain 2_220771223_C->T 2 220771223 220771223 C T snp 4161.77 1/1 99 151 0 151 1.0 ncRNA_exonic rs4674470 MIR4268 AU 0.798123 0.7272 0.8057 0.7576 Uncertain 2_220771290_G->A 2 220771290 220771290 G A snp 2028.77 1/1 99 71 0 71 1.0 upstream rs4674471 MIR4268 AU 0.789137 0.7272 0.7991 0.7576 Uncertain 2_220771310_A->G 2 220771310 220771310 A G snp 1570.77 1/1 99 54 0 54 1.0 upstream rs4674472 MIR4268 AU 0.797923 0.7262 0.8057 0.7727 Uncertain 2_220771378_A->G 2 220771378 220771378 A G snp 705.77 1/1 51 25 0 25 1.0 upstream rs4674473 MIR4268 AU 0.798123 0.7272 Uncertain 2_222301357_T->C 2 222301357 222301357 T C snp 4012.77 1/1 99 142 0 142 1.0 intronic rs3213844 EPHA4 AU NM_001304537 exon6 c.10581+29T>C 0.549521 0.6002 0.604106 0.6701 0.6548 Uncertain 2_222320427_G->A 2 222320427 222320427 G A snp 2983.77 1/1 99 109 0 109 1.0 intronic rs2288627 EPHA4 AU NM_001304537 exon11 c.29631+49G>A 0.683506 0.6607 0.718000 0.7314 0.7261 Uncertain 2_222321225_C->T 2 222321225 222321225 C T snp 432.77 1/1 33 15 0 15 1.0 intronic rs6718949 EPHA4 AU NM_001304537 exon12 c.30585-107C>T 0.685903 0.6617 Uncertain 2_222367483_G->A 2 222367483 222367483 G A snp 168.77 0/1 99 31 24 7 0.23 intronic rs61623527 EPHA4 AU NM_001304537 exon15 c.75145+1591G>A 0.428714 0.4563 Uncertain 2_222431507_G->T 2 222431507 222431507 G T snp 217.77 0/1 99 33 21 12 0.36 intronic rs66502809 EPHA4 AU NM_004438 exon17 c.142690-1930G>T 0.116613 0.131 Uncertain 2_222431521_G->A 2 222431521 222431521 G A snp 257.77 0/1 99 27 14 13 0.48 intronic rs35574019 EPHA4 AU NM_004438 exon17 c.142690-1916G>A 0.459864 0.4831 Uncertain 2_222431598_G->A 2 222431598 222431598 G A snp 199.82 0/1 19 7 1 6 0.86 intronic rs7586708 EPHA4 AU NM_004438 exon17 c.142690-1839G>A Uncertain 2_222431676_G->A 2 222431676 222431676 G A snp 32.77 0/1 61 11 8 3 0.27 intronic rs7589383 EPHA4 AU NM_004438 exon17 c.142690-1761G>A Uncertain 2_222431689_-->GAAGAAGAA 2 222431689 222431689 - GAAGAAGAA indel 963.73 0/1 99 28 14 14 0.5 intronic EPHA4 AU NM_004438 exon17 c.142690-1748insGAAGAAGAA Uncertain 2_222431695_A->G 2 222431695 222431695 A G snp 429.77 0/1 99 29 11 18 0.62 intronic rs147387638 EPHA4 AU NM_004438 exon17 c.142690-1742A>G 0.0858626 0.129 Uncertain 2_222431698_A->G 2 222431698 222431698 A G snp 121.77 0/1 99 31 25 6 0.19 intronic rs147882655 EPHA4 AU NM_004438 exon17 c.142690-1739A>G 0.0840655 0.125 Uncertain 2_222431701_A->G 2 222431701 222431701 A G snp 328.77 0/1 99 32 17 15 0.47 intronic EPHA4 AU NM_004438 exon17 c.142690-1736A>G Uncertain 2_222431704_A->G 2 222431704 222431704 A G snp 327.77 0/1 99 33 18 15 0.45 intronic EPHA4 AU NM_004438 exon17 c.142690-1733A>G Uncertain 2_222431730_-->AG 2 222431730 222431730 - AG indel 1138.73 1/1 50 44 3 41 0.93 intronic rs199501239 EPHA4 AU NM_004438 exon17 c.142690-1707insAG Uncertain 2_223065870_C->G 2 223065870 223065870 C G snp 2727.77 0/1 99 228 114 114 0.5 downstream rs3731858 PAX3 AR,AD 0.173323 0.2758 0.143152 0.1896 0.2804 Uncertain 2_223161624_A->G 2 223161624 223161624 A G snp 1229.77 1/1 90 42 0 42 1.0 intronic rs12694578 PAX3 AR,AD NM_181461 exon7 c.95574-72A>G 0.541933 0.631 Uncertain 2_223161889_A->G 2 223161889 223161889 A G snp 2483.77 1/1 99 90 0 90 1.0 exonic rs12623857 PAX3 AR,AD synonymous SNV NM_181457 exon2 c.T129C p.G43G 0.904353 0.998 0.846527 0.8872 1 Uncertain 2_223162024_T->G 2 223162024 223162024 T G snp 341.78 1/1 27 13 0 13 1.0 intronic rs6754024 PAX3 AR,AD NM_181461 exon7 c.95810+92T>G 0.903954 0.999 Uncertain 2_223339154_C->T 2 223339154 223339154 C T snp 99.28 1/1 9 3 0 3 1.0 intronic rs10208082 SGPP2 AU NM_152386 exon2 c.49965-132C>T 0.341454 0.4504 Uncertain 2_223423362_A->G 2 223423362 223423362 A G snp 7320.77 1/1 99 250 0 250 1.0 exonic rs4674664 SGPP2 AU synonymous SNV NM_152386 exon5 c.A945G p.P315P 0.877796 1 0.856835 0.9305 0.9999 Uncertain 2_223436607_C->T 2 223436607 223436607 C T snp 1066.77 1/1 78 41 0 41 1.0 exonic rs7185 FARSB AU nonsynonymous SNV NM_005687 exon17 c.G1753A p.V585I 0.836062 0.9712 0.805859 0.8819 0.9767 0.86 T 0.000 P -0.961 T 0.0 T 0.001 T Pathogenic 2_223489250_T->- 2 223489250 223489250 T - indel 511.73 0/1 99 34 16 18 0.53 intronic rs3214770 FARSB AU NM_005687 exon6 c.52609+52delT 0.229034 0.2917 0.285887 0.3194 0.2655 Uncertain 2_223489293_C->T 2 223489293 223489293 C T snp 466.77 0/1 99 25 9 16 0.64 intronic rs2290031 FARSB AU NM_005687 exon6 c.52609+95C>T 0.241214 0.2917 Uncertain 2_223493435_G->A 2 223493435 223493435 G A snp 757.77 0/1 99 75 42 33 0.44 intronic rs2019357 FARSB AU NM_005687 exon8 c.56966-120G>A 0.783946 0.4484 Uncertain 2_223520905_G->C 2 223520905 223520905 G C snp 1496.77 0/1 99 155 91 64 0.41 UTR5 rs2166652 FARSB AU 0.782947 0.4484 Uncertain 2_223520978_A->G 2 223520978 223520978 A G snp 749.77 0/1 99 66 38 28 0.42 UTR5 rs2044537 FARSB AU 0.781949 0.4484 Uncertain 2_223781018_T->- 2 223781018 223781018 T - indel 794.73 1/1 79 27 0 27 1.0 intronic rs60362808 ACSL3 AU NM_203372 exon4 c.7546-18delT 0.476837 0.752 0.5582 0.8296 Uncertain 2_223785504_T->C 2 223785504 223785504 T C snp 1273.77 1/1 96 33 0 33 1.0 intronic rs6739824 ACSL3 AU NM_203372 exon7 c.12507-493T>C 0.951078 0.9742 Uncertain 2_223785740_A->G 2 223785740 223785740 A G snp 6591.77 1/1 99 233 2 231 0.99 intronic rs6756323 ACSL3 AU NM_203372 exon7 c.12507-257A>G 0.531949 0.7589 0.5022 0.7695 Uncertain 2_223785846_G->A 2 223785846 223785846 G A snp 1640.77 1/1 99 48 0 48 1.0 intronic rs6728234 ACSL3 AU NM_203372 exon7 c.12507-151G>A 0.903155 0.9673 Uncertain 2_223787559_G->A 2 223787559 223787559 G A snp 2182.77 1/1 99 78 0 78 1.0 intronic rs11891410 ACSL3 AU NM_203372 exon8 c.14059+10G>A 0.904353 0.9732 0.826311 0.8366 0.9762 Uncertain 2_223787691_G->A 2 223787691 223787691 G A snp 385.77 1/1 30 10 0 10 1.0 intronic rs10932978 ACSL3 AU NM_203372 exon9 c.14305-104G>A 0.903954 0.9732 Uncertain 2_223789080_C->G 2 223789080 223789080 C G snp 56.74 1/1 6 2 0 2 1.0 intronic rs1866661 ACSL3 AU NM_203372 exon10 c.15683-93C>G 0.88139 0.9692 Uncertain 2_223793471_C->T 2 223793471 223793471 C T snp 364.78 1/1 27 15 0 15 1.0 intronic rs1550419 ACSL3 AU NM_203372 exon12 c.20089-108C>T 0.572684 0.7589 Uncertain 2_223793480_C->T 2 223793480 223793480 C T snp 388.77 1/1 30 16 0 16 1.0 intronic rs1550420 ACSL3 AU NM_203372 exon12 c.20089-99C>T 0.951078 0.9742 Uncertain 2_223799207_C->T 2 223799207 223799207 C T snp 932.77 1/1 69 23 0 23 1.0 intronic rs935030 ACSL3 AU NM_203372 exon15 c.25757-40C>T 1 1 0.997922 0.9987 1 Uncertain 2_223806189_-->T 2 223806189 223806189 - T indel 212.73 1/1 39 20 2 18 0.9 intronic rs5838973 ACSL3 AU NM_203372 exon16 c.32724-25insT 0.385184 0.5327 0.4784 0.5838 Uncertain 2_223917629_C->T 2 223917629 223917629 C T snp 2363.77 0/1 99 176 80 96 0.55 exonic rs3795886 KCNE4 AU synonymous SNV NM_080671 exon2 c.C234T p.G78G 0.72504 0.6458 0.704598 0.7145 0.6428 Uncertain 2_223917812_T->C 2 223917812 223917812 T C snp 4329.77 1/1 99 135 0 135 1.0 exonic rs10201907 KCNE4 AU synonymous SNV NM_080671 exon2 c.T417C p.P139P 0.966653 0.9931 0.957635 0.9478 0.9973 Uncertain 2_223917983_T->G 2 223917983 223917983 T G snp 2574.77 0/1 99 179 76 103 0.58 exonic rs12621643 KCNE4 AU nonsynonymous SNV NM_080671 exon2 c.T588G p.D196E 0.670927 0.6885 0.643802 0.7033 0.6912 0.53 T 0.000 P -0.965 T 0.0 T 0.001 T ID=CM076246;DIS=Atrial fibrillation, association with;TAG=DFP;PUB=17016049 DFP Pathogenic 2_223918080_C->G 2 223918080 223918080 C G snp 5494.77 1/1 99 206 0 206 1.0 UTR3 rs10189762 KCNE4 AU 0.945088 0.9911 0.939749 0.9370 0.9973 Uncertain 2_224629851_-->T 2 224629851 224629851 - T indel 1829.73 1/1 99 44 0 44 1.0 intronic rs11455542 AP1S3 AD NM_001039569 exon2 c.6498-78insT 0.300519 0.4077 0.1487 0.4147 Uncertain 2_224629876_-->CAT 2 224629876 224629876 - CAT indel 3738.73 1/1 99 73 0 73 1.0 intronic rs10644138 AP1S3 AD NM_001039569 exon2 c.6498-53insCAT 0.269968 0.37 0.1547 0.4051 Uncertain 2_224634763_G->A 2 224634763 224634763 G A snp 96.28 1/1 9 3 0 3 1.0 intronic rs627678 AP1S3 AD NM_001039569 exon2 c.6636+4696G>A 0.935304 0.999 Uncertain 2_224637967_A->G 2 224637967 224637967 A G snp 3066.77 1/1 99 110 0 110 1.0 intronic rs16865186 AP1S3 AD NM_001039569 exon3 c.17186-2650A>G 0.398163 0.5992 Uncertain 2_224638216_G->T 2 224638216 224638216 G T snp 139.03 1/1 12 4 0 4 1.0 intronic rs10933015 AP1S3 AD NM_001039569 exon3 c.17186-2401G>T 0.398163 0.5992 Uncertain 2_224743591_C->T 2 224743591 224743591 C T snp 2374.77 1/1 99 77 0 77 1.0 intronic rs602675 WDFY1 AU NM_020830 exon1 c.60+144C>T 0.871006 0.8323 Uncertain 2_224743652_A->G 2 224743652 224743652 A G snp 565.77 1/1 42 16 0 16 1.0 intronic rs547234 WDFY1 AU NM_020830 exon1 c.60+205A>G 0.872404 0.8323 Uncertain 2_224749570_-->TTC 2 224749570 224749570 - TTC indel 755.73 1/1 54 22 0 22 1.0 intronic rs142075274 WDFY1 AU NM_020830 exon4 c.6079+104insTTC Uncertain 2_224758906_C->T 2 224758906 224758906 C T snp 4279.77 1/1 99 150 0 150 1.0 intronic rs625150 WDFY1 AU NM_020830 exon5 c.15563-44C>T 0.910144 0.8284 0.938721 0.9399 0.8090 Uncertain 2_224760494_G->A 2 224760494 224760494 G A snp 311.78 1/1 24 9 0 9 1.0 intronic rs597349 WDFY1 AU NM_020830 exon6 c.16960+147G>A 0.909944 0.8274 Uncertain 2_224760575_A->G 2 224760575 224760575 A G snp 59.74 1/1 6 3 0 3 1.0 intronic rs552854 WDFY1 AU NM_020830 exon6 c.16960+228A>G 0.910942 0.8264 Uncertain 2_224763816_C->T 2 224763816 224763816 C T snp 1577.77 1/1 99 55 0 55 1.0 intronic rs530065 WDFY1 AU NM_020830 exon7 c.20400+29C>T 0.911142 0.8284 0.936798 0.9394 0.8097 Uncertain 2_224765894_G->A 2 224765894 224765894 G A snp 2424.77 1/1 99 85 0 85 1.0 splicing rs604990 WDFY1 AU NM_020830 exon8 c.22512-5G>A 0.911142 0.8284 0.938797 0.9408 0.8097 Pathogenic 2_224765956_C->T 2 224765956 224765956 C T snp 4101.77 1/1 99 148 0 148 1.0 exonic rs2272317 WDFY1 AU synonymous SNV NM_020830 exon5 c.G429A p.T143T 0.101038 0.248 0.035215 0.0564 0.2734 Uncertain 2_224766250_G->C 2 224766250 224766250 G C snp 86.28 1/1 9 3 0 3 1.0 intronic rs678370 WDFY1 AU NM_020830 exon8 c.22663+200G>C 0.911142 0.8284 Uncertain 2_224770780_C->T 2 224770780 224770780 C T snp 386.77 1/1 30 12 0 12 1.0 intronic rs622896 WDFY1 AU NM_020830 exon9 c.27331+62C>T 0.815895 0.8284 0.846476 Uncertain 2_224844919_C->G 2 224844919 224844919 C G snp 300.78 1/1 24 11 0 11 1.0 intronic rs729631 SERPINE2 AU NM_001136530 exon3 c.4444-108C>G 0.679712 0.4365 Uncertain 2_224847707_T->C 2 224847707 224847707 T C snp 56.74 1/1 6 2 0 2 1.0 intronic rs975278 SERPINE2 AU NM_001136530 exon4 c.6915+209T>C 0.679113 0.4345 Uncertain 2_224856650_G->A 2 224856650 224856650 G A snp 4435.77 1/1 99 173 0 173 1.0 exonic rs6712954 SERPINE2 AU synonymous SNV NM_001136528 exon4 c.C555T p.N185N 0.148562 0.1478 0.108488 0.1000 0.1669 Uncertain 2_225244235_A->C 2 225244235 225244235 A C snp 72.77 0/1 99 9 6 3 0.33 UTR3 rs16865905 FAM124B AU 0.179712 0.2431 Uncertain 2_225244888_A->G 2 225244888 225244888 A G snp 650.77 0/1 99 61 31 30 0.49 exonic rs3738954 FAM124B AU nonsynonymous SNV NM_001122779 exon2 c.T770C p.I257T 0.179513 0.2431 0.126150 0.1684 0.2197 0.64 T 0.0 P -0.967 T 0.0 T 0.0 T Pathogenic 2_225244923_A->G 2 225244923 225244923 A G snp 495.77 0/1 99 43 20 23 0.53 exonic rs3738953 FAM124B AU synonymous SNV NM_001122779 exon2 c.T735C p.V245V 0.230831 0.2798 0.165791 0.1963 0.2682 Uncertain 2_225265645_G->A 2 225265645 225265645 G A snp 134.77 0/1 99 17 12 5 0.29 intronic rs13010329 FAM124B AU NM_024785 exon3 c.618-108G>A 0.182907 0.2609 Uncertain 2_225346646_T->C 2 225346646 225346646 T C snp 653.77 0/1 99 61 34 27 0.44 exonic rs2070127 CUL3 AD synonymous SNV NM_003590 exon14 c.A1992G p.Q664Q 0.232628 0.2401 0.174381 0.1845 0.2783 Uncertain 2_225362478_C->T 2 225362478 225362478 C T snp 1927.77 0/1 99 178 93 85 0.48 exonic rs3738952 CUL3 AD nonsynonymous SNV NM_003590 exon12 c.G1699A p.V567I 0.139377 0.2391 0.071198 0.1280 0.2772 0.16 T 1.000 P -1.111 T 0.0 T 0.014 T Pathogenic 2_225364937_T->C 2 225364937 225364937 T C snp 141.03 1/1 12 4 0 4 1.0 intronic rs3768890 CUL3 AD NM_001257197 exon6 c.26118-142T>C 0.232827 0.2401 Uncertain 2_225365056_A->G 2 225365056 225365056 A G snp 1073.77 0/1 99 88 39 49 0.56 intronic rs3768889 CUL3 AD NM_001257197 exon6 c.26118-23A>G 0.232827 0.2401 0.174765 0.1841 0.2777 Uncertain 2_225367669_C->T 2 225367669 225367669 C T snp 2644.77 0/1 99 238 126 112 0.47 intronic rs3754629 CUL3 AD NM_001257197 exon7 c.28720-12C>T 0.232628 0.2401 0.175227 0.1857 0.2778 Uncertain 2_225368321_A->G 2 225368321 225368321 A G snp 1376.77 1/1 99 51 0 51 1.0 intronic rs3738951 CUL3 AD NM_001257197 exon8 c.29407-47A>G 0.539736 0.6508 0.466205 0.5180 0.6295 Uncertain 2_225370554_C->A 2 225370554 225370554 C A snp 50.74 1/1 6 2 0 2 1.0 intronic rs1027340 CUL3 AD NM_001257197 exon9 c.31711-118C>A 0.527556 0.6052 Uncertain 2_225376034_G->A 2 225376034 225376034 G A snp 1052.77 0/1 99 95 49 46 0.48 intronic rs11686067 CUL3 AD NM_001257197 exon11 c.37109-36G>A 0.232827 0.2401 0.174462 0.1855 0.2775 Uncertain 2_225400186_CTTCAA->- 2 225400186 225400191 CTTCAA - indel 3233.06 0/1 99 69 29 40 0.58 intronic rs3832047 CUL3 AD NM_001257197 exon14 c.61283-58_61283-53delCTTCAA 0.231829 0.2401 Uncertain 2_225434445_A->G 2 225434445 225434445 A G snp 198.77 0/1 99 21 10 11 0.52 intronic rs10498163 CUL3 AD NM_001257198 exon16 c.95444+40A>G 0.28095 0.3651 0.2999 0.3131 Uncertain 2_225449631_C->T 2 225449631 225449631 C T snp 647.77 0/1 99 49 19 30 0.61 intronic rs79335494 CUL3 AD NM_001257197 exon15 c.110699-29C>T 0.00259585 0.0109 0.000157 0.0031 0.0499 Uncertain 2_225449894_GGCGGC->- 2 225449894 225449899 GGCGGC - indel 282.87 1/1 15 12 0 12 1.0 UTR5 rs552925358 CUL3 AD 0.565096 0.6815 Uncertain 2_225658104_G->A 2 225658104 225658104 G A snp 1472.77 0/1 99 132 69 63 0.48 intronic rs117595632 DOCK10 AU NM_014689 exon11 c.27679-12G>A 0.019369 0.0685 0.000168 0.0102 0.0634 Uncertain 2_225665074_G->A 2 225665074 225665074 G A snp 378.77 1/1 30 10 0 10 1.0 intronic rs1560859 DOCK10 AU NM_014689 exon16 c.34543+94G>A 0.972444 0.999 Uncertain 2_225669622_C->G 2 225669622 225669622 C G snp 128.78 0/1 27 7 1 6 0.86 intronic DOCK10 AU NM_014689 exon19 c.39121+64C>G Uncertain 2_225719781_-->AC 2 225719781 225719781 - AC indel 1736.73 0/1 99 136 21 115 0.85 intronic rs145044043 DOCK10 AU NM_014689 exon41 c.89322+22insAC 0.2090 0.2491 Uncertain 2_225875158_A->C 2 225875158 225875158 A C snp 874.77 1/1 63 30 0 30 1.0 intronic rs590233 DOCK10 AU NM_014689 exon56 c.276531-31810A>C 0.840256 0.8333 1 . Uncertain 2_225907150_C->T 2 225907150 225907150 C T snp 1278.77 1/1 90 52 0 52 1.0 UTR5 rs397052 DOCK10 AU 0.379193 0.5813 Uncertain 2_226273490_T->C 2 226273490 226273490 T C snp 149.77 0/1 99 14 8 6 0.43 intronic rs2048935 NYAP2 AU 0.75599 0.5893 Uncertain 2_226273689_T->C 2 226273689 226273689 T C snp 1680.77 0/1 99 178 101 77 0.43 exonic rs2048936 NYAP2 AU synonymous SNV NM_020864 exon2 c.T93C p.Y31Y 0.756589 0.5903 0.857499 0.7825 0.6188 Uncertain 2_226447735_C->T 2 226447735 226447735 C T snp 743.77 0/1 99 67 37 30 0.45 exonic rs3828256 NYAP2 AU synonymous SNV NM_020864 exon4 c.C1602T p.S534S 0.534145 0.5288 0.552353 0.6458 0.5153 Uncertain 2_226447844_G->A 2 226447844 226447844 G A snp 403.77 1/1 30 14 0 14 1.0 intronic rs6436570 NYAP2 AU NM_020864 exon4 c.174155+93G>A 0.93151 0.8482 Uncertain 2_226491770_A->C 2 226491770 226491770 A C snp 5225.77 1/1 99 195 1 194 0.99 exonic rs3748993 NYAP2 AU nonsynonymous SNV NM_020864 exon5 c.A1756C p.T586P 0.933307 0.8482 0.961917 0.9377 0.8322 1 T 0.001 P -0.964 T 0.0 T 0.0 T Pathogenic 2_227659840_T->G 2 227659840 227659840 T G snp 201.77 0/1 99 90 57 33 0.37 exonic rs766635973 IRS1 AU,AD synonymous SNV NM_005544 exon1 c.A3615C p.P1205P 0.0059 0.0030 Uncertain 2_227659846_T->G 2 227659846 227659846 T G snp 34.77 0/1 63 92 62 30 0.33 exonic rs765518355 IRS1 AU,AD synonymous SNV NM_005544 exon1 c.A3609C p.P1203P 0.0051 0.0044 Uncertain 2_227771389_T->G 2 227771389 227771389 T G snp 74.77 0/1 99 8 5 3 0.38 intronic rs978909 RHBDD1 AU NM_001167608 exon6 c.42099-119T>G 0.515575 0.3631 Uncertain 2_227773466_T->C 2 227773466 227773466 T C snp 585.77 0/1 99 49 19 30 0.61 intronic rs3820928 RHBDD1 AU NM_001167608 exon7 c.44128-71T>C 0.451877 0.3631 0.426194 Uncertain 2_227779191_C->A 2 227779191 227779191 C A snp 571.77 0/1 99 52 28 24 0.46 intronic rs3820927 RHBDD1 AU NM_001167608 exon8 c.49658+124C>A 0.465655 0.4593 Uncertain 2_227807202_G->T 2 227807202 227807202 G T snp 552.77 0/1 99 50 26 24 0.48 intronic rs6436641 RHBDD1 AU NM_001167608 exon8 c.49658+28135G>T 0.457268 0.4087 0.5435 0.3607 Uncertain 2_227872182_G->A 2 227872182 227872182 G A snp 915.77 0/1 99 71 36 35 0.49 exonic rs2228557 COL4A4 AR,AU synonymous SNV NM_000092 exon48 c.C4932T p.F1644F 0.514377 0.4048 0.460410 0.4657 0.4012 Uncertain 2_227872995_T->C 2 227872995 227872995 T C snp 1614.77 0/1 99 129 55 74 0.57 exonic rs2228555 COL4A4 AR,AU synonymous SNV NM_000092 exon47 c.A4548G p.V1516V 0.640575 0.5982 0.585705 0.5602 0.5621 Uncertain 2_227873028_A->G 2 227873028 227873028 A G snp 1321.77 0/1 99 99 43 56 0.57 intronic rs13419076 COL4A4 AR,AU NM_000092 exon2 c.980+8A>G 0.515575 0.4048 0.454801 0.4649 0.3990 Uncertain 2_227874957_C->T 2 227874957 227874957 C T snp 1106.77 0/1 99 69 26 43 0.62 intronic rs4423583 COL4A4 AR,AU NM_000092 exon3 c.2988-71C>T 0.516573 0.4048 Uncertain 2_227877037_G->A 2 227877037 227877037 G A snp 482.77 0/1 99 59 37 22 0.37 intronic rs10188770 COL4A4 AR,AU NM_000092 exon4 c.4973+24G>A 0.520567 0.4038 0.471249 0.4763 0.4024 Uncertain 2_227886773_A->G 2 227886773 227886773 A G snp 1521.77 0/1 99 148 79 69 0.47 exonic rs3752895 COL4A4 AR,AU nonsynonymous SNV NM_000092 exon44 c.T4207C p.S1403P 0.526158 0.4058 0.478246 0.4763 0.4040 0.61 T 0.000 P -0.950 T 0.0 T 0.0 T Pathogenic 2_227886925_C->T 2 227886925 227886925 C T snp 1024.77 0/1 99 118 74 44 0.37 intronic rs3752896 COL4A4 AR,AU NM_000092 exon5 c.14849+36C>T 0.448482 0.4058 0.411268 0.4550 0.4044 Uncertain 2_227892619_C->T 2 227892619 227892619 C T snp 273.77 0/1 99 53 37 16 0.3 exonic rs2228556 COL4A4 AR,AU synonymous SNV NM_000092 exon42 c.G4080A p.P1360P 0.491813 0.4028 0.454637 0.4700 0.4058 Uncertain 2_227892720_C->T 2 227892720 227892720 C T snp 333.77 0/1 99 30 17 13 0.43 exonic rs2229813 COL4A4 AR,AU nonsynonymous SNV NM_000092 exon42 c.G3979A p.V1327M 0.493011 0.4028 0.454830 0.4879 0.4240 0.18 T 0.000 P -0.943 T 0.0 T 0.004 T CLINSIG=probable-pathogenic;CLNDBN=not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000171504.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Pathogenic 2_227895125_A->G 2 227895125 227895125 A G snp 985.77 0/1 99 69 29 40 0.58 intronic rs1917127 COL4A4 AR,AU NM_000092 exon8 c.23118-33A>G 0.496605 0.4038 0.454085 0.4722 0.4091 Uncertain 2_227896652_C->G 2 227896652 227896652 C G snp 326.77 0/1 99 33 18 15 0.45 intronic rs13423714 COL4A4 AR,AU NM_000092 exon9 c.24620-8C>G 0.496006 0.4038 0.451309 0.4801 0.4159 Uncertain 2_227896886_C->T 2 227896886 227896886 C T snp 2211.77 0/1 99 190 92 98 0.52 exonic rs2229812 COL4A4 AR,AU synonymous SNV NM_000092 exon39 c.G3684A p.K1228K 0.495607 0.4028 0.452558 0.4716 0.4077 Uncertain 2_227896976_C->T 2 227896976 227896976 C T snp 1315.77 0/1 99 93 40 53 0.57 exonic rs10203363 COL4A4 AR,AU synonymous SNV NM_000092 exon39 c.G3594A p.G1198G 0.495008 0.4028 0.451201 0.4746 0.4129 Uncertain 2_227897076_A->G 2 227897076 227897076 A G snp 324.77 0/1 99 17 7 10 0.59 intronic rs10179756 COL4A4 AR,AU NM_000092 exon10 c.24952+84A>G 0.495407 0.4028 Uncertain 2_227912331_G->A 2 227912331 227912331 G A snp 454.77 0/1 99 40 20 20 0.5 intronic rs2272200 COL4A4 AR,AU NM_000092 exon14 c.40225+66G>A 0.553115 0.4821 Uncertain 2_227914655_C->G 2 227914655 227914655 C G snp 86.77 0/1 99 19 15 4 0.21 intronic rs2272203 COL4A4 AR,AU NM_000092 exon15 c.42743-128C>G 0.553115 0.4821 Uncertain 2_227914975_T->G 2 227914975 227914975 T G snp 543.77 0/1 99 37 19 18 0.49 intronic rs2251223 COL4A4 AR,AU NM_000092 exon15 c.42807+128T>G 0.685903 0.4861 Uncertain 2_227915601_G->T 2 227915601 227915601 G T snp 98.77 0/1 99 9 5 4 0.44 intronic rs2272204 COL4A4 AR,AU NM_000092 exon16 c.43652-91G>T 0.547324 0.4821 Uncertain 2_227915832_G->A 2 227915832 227915832 G A snp 1802.77 0/1 99 170 89 81 0.48 exonic rs1800517 COL4A4 AR,AU nonsynonymous SNV NM_000092 exon33 c.C3011T p.P1004L 0.547324 0.4821 0.518593 0.5205 0.4551 0.05 T 1.000 P -1.162 T 0.634 T 0.2 P Pathogenic 2_227916039_T->C 2 227916039 227916039 T C snp 31.77 0/1 60 6 4 2 0.33 intronic rs2894626 COL4A4 AR,AU NM_000092 exon16 c.43834+165T>C 0.551917 0.4821 Uncertain 2_227917240_C->G 2 227917240 227917240 C G snp 345.77 0/1 99 23 10 13 0.57 intronic rs3769644 COL4A4 AR,AU NM_000092 exon17 c.45088+112C>G 0.551917 0.4821 Uncertain 2_227917270_T->C 2 227917270 227917270 T C snp 183.77 0/1 99 14 7 7 0.5 intronic rs3769643 COL4A4 AR,AU NM_000092 exon17 c.45088+142T>C 0.551917 0.4821 Uncertain 2_227920474_G->A 2 227920474 227920474 G A snp 186.77 0/1 54 8 2 6 0.75 intronic rs1320406 COL4A4 AR,AU NM_000092 exon19 c.48620-186G>A 0.492212 0.4812 Uncertain 2_227922104_T->C 2 227922104 227922104 T C snp 421.77 0/1 99 18 5 13 0.72 intronic rs7567789 COL4A4 AR,AU NM_000092 exon20 c.50114-50T>C 0.666534 0.4861 0.657633 0.6524 0.4393 Uncertain 2_227922109_T->A 2 227922109 227922109 T A snp 411.77 0/1 99 19 6 13 0.68 intronic rs7567796 COL4A4 AR,AU NM_000092 exon20 c.50114-45T>A 0.633786 0.4861 0.624452 0.6513 0.4773 Uncertain 2_227922454_G->A 2 227922454 227922454 G A snp 628.77 0/1 99 53 30 23 0.43 intronic rs2141829 COL4A4 AR,AU NM_000092 exon20 c.50276+138G>A 0.685503 0.4861 Uncertain 2_227922470_T->C 2 227922470 227922470 T C snp 350.77 0/1 99 34 21 13 0.38 intronic rs2141828 COL4A4 AR,AU NM_000092 exon20 c.50276+154T>C 0.302117 0.2917 Uncertain 2_227925097_C->T 2 227925097 227925097 C T snp 68.77 0/1 97 11 8 3 0.27 intronic rs6436650 COL4A4 AR,AU NM_000092 exon22 c.52919+138C>T 0.683307 0.4841 Uncertain 2_227927190_T->- 2 227927190 227927190 T - indel 430.73 0/1 99 31 8 23 0.74 intronic rs35717623 COL4A4 AR,AU NM_000092 exon23 c.55205-55delT 0.558307 0.4762 Uncertain 2_227947053_C->G 2 227947053 227947053 C G snp 100.77 0/1 99 13 8 5 0.38 intronic rs10187611 COL4A4 AR,AU NM_000092 exon26 c.74863+150C>G 0.232428 0.2232 Uncertain 2_227954599_G->A 2 227954599 227954599 G A snp 1992.77 0/1 99 147 59 88 0.6 exonic rs2229814 COL4A4 AR,AU nonsynonymous SNV NM_000092 exon21 c.C1444T p.P482S 0.548522 0.5198 0.509039 0.5344 0.4908 0.72 T 0.0 P -0.903 T 0.0 T 0.0 T Pathogenic 2_227966148_C->T 2 227966148 227966148 C T snp 93.28 1/1 9 4 0 4 1.0 intronic rs16823202 COL4A4 AR,AU NM_000092 exon32 c.94179-71C>T 0.583666 0.3938 0.656236 Uncertain 2_227966298_-->A 2 227966298 227966298 - A indel 458.73 0/1 99 74 40 34 0.46 intronic rs397724904 COL4A4 AR,AU NM_000092 exon32 c.94233+25insA 0.535343 0.3849 0.616004 0.5169 0.4119 Uncertain 2_227967330_C->G 2 227967330 227967330 C G snp 176.9 1/1 15 5 0 5 1.0 intronic rs1574391 COL4A4 AR,AU NM_000092 exon34 c.95464-174C>G 0.602636 0.6141 Uncertain 2_227967602_CAATATTTCAGCAATAGGGAAAG->- 2 227967602 227967624 CAATATTTCAGCAATAGGGAAAG - indel 17508.7 1/1 99 135 0 135 1.0 intronic rs11274738 COL4A4 AR,AU NM_000092 exon34 c.95524+38_95524+60delCAATATTTCAGCAATAGGGAAAG 0.604832 0.6141 0.567097 0.6073 0.5944 Uncertain 2_227967831_A->- 2 227967831 227967831 A - indel 593.75 1/1 24 31 2 29 0.94 intronic rs10707643 COL4A4 AR,AU NM_000092 exon35 c.95819-28delA 0.655152 0.6161 0.6736 0.6530 Uncertain 2_227968553_A->C 2 227968553 227968553 A C snp 786.77 1/1 60 24 0 24 1.0 intronic rs7602059 COL4A4 AR,AU NM_000092 exon36 c.96647-134A>C 0.605431 0.5337 Uncertain 2_227973095_A->T 2 227973095 227973095 A T snp 149.77 0/1 99 14 7 7 0.5 intronic rs7600536 COL4A4 AR,AU NM_000092 exon37 c.101256-201A>T 0.703075 0.5754 Uncertain 2_227973193_G->A 2 227973193 227973193 G A snp 806.77 0/1 99 65 33 32 0.49 intronic rs10174459 COL4A4 AR,AU NM_000092 exon37 c.101256-103G>A 0.185104 0.3204 Uncertain 2_227973623_A->G 2 227973623 227973623 A G snp 1180.77 0/1 99 106 58 48 0.45 intronic rs12475686 COL4A4 AR,AU NM_000092 exon38 c.101544+39A>G 0.600439 0.5933 0.622897 0.6137 0.5904 Uncertain 2_227973873_T->C 2 227973873 227973873 T C snp 2360.77 0/1 99 224 128 96 0.43 intronic rs58363082 COL4A4 AR,AU NM_000092 exon39 c.101899-66T>C 0.286741 0.3085 0.195243 0.1435 0.2994 Uncertain 2_227973878_C->T 2 227973878 227973878 C T snp 2316.77 0/1 99 220 126 94 0.43 intronic rs59938187 COL4A4 AR,AU NM_000092 exon39 c.101899-61C>T 0.284545 0.3085 0.191942 0.1423 0.2995 Uncertain 2_227973892_T->C 2 227973892 227973892 T C snp 2390.77 0/1 99 231 131 100 0.43 intronic rs73082223 COL4A4 AR,AU NM_000092 exon39 c.101899-47T>C 0.352236 0.3085 0.262746 0.1696 0.2998 Uncertain 2_227974113_A->G 2 227974113 227974113 A G snp 2556.77 0/1 99 250 137 113 0.45 intronic rs6436654 COL4A4 AR,AU NM_000092 exon39 c.101962+111A>G 0.689497 0.5744 Uncertain 2_227974191_A->G 2 227974191 227974191 A G snp 1469.77 0/1 99 141 80 61 0.43 intronic rs6436655 COL4A4 AR,AU NM_000092 exon39 c.101962+189A>G 0.712061 0.5734 0.6520 0.6016 Uncertain 2_227974193_G->A 2 227974193 227974193 G A snp 1464.77 0/1 99 139 78 61 0.44 intronic rs7578239 COL4A4 AR,AU NM_000092 exon39 c.101962+191G>A 0.275359 0.3095 0.1633 0.3837 Uncertain 2_227976226_T->C 2 227976226 227976226 T C snp 153.77 0/1 99 19 9 10 0.53 intronic rs4519512 COL4A4 AR,AU NM_000092 exon40 c.104353-167T>C 0.259984 0.3075 Uncertain 2_227976230_C->A 2 227976230 227976230 C A snp 257.77 0/1 99 23 10 13 0.57 intronic rs4306711 COL4A4 AR,AU NM_000092 exon40 c.104353-163C>A 0.259984 0.3075 Uncertain 2_228102752_C->A 2 228102752 228102752 C A snp 1341.77 0/1 99 102 46 56 0.55 ncRNA_intronic rs1882435 LOC654841 AU 0.305112 0.4206 0.284798 0.3078 0.4537 Uncertain 2_228104760_C->T 2 228104760 228104760 C T snp 3212.77 1/1 99 112 0 112 1.0 ncRNA_intronic rs7579991 LOC654841 AU 0.795727 0.8988 Uncertain 2_228109626_-->G 2 228109626 228109626 - G indel 1084.75 1/1 24 30 3 27 0.9 ncRNA_intronic rs113428834 LOC654841 AU 0.749201 0.8909 0.766519 0.7494 0.8395 Uncertain 2_228109784_C->T 2 228109784 228109784 C T snp 977.77 1/1 75 36 1 35 0.97 ncRNA_intronic rs6750210 LOC654841 AU 0.748003 0.8978 0.738043 Uncertain 2_228111435_T->C 2 228111435 228111435 T C snp 2333.77 1/1 99 80 0 80 1.0 exonic rs10178458 COL4A3 AR,AD nonsynonymous SNV NM_000091 exon7 c.T422C p.L141P 0.796725 0.8978 0.770425 0.8302 0.9136 1 T 0.620 P -0.919 T 0.042 T 0.011 T Pathogenic 2_228111600_G->T 2 228111600 228111600 G T snp 1540.77 1/1 99 51 0 51 1.0 ncRNA_intronic rs10168566 LOC654841 AU 0.776158 0.8978 0.744855 0.8099 0.9009 Uncertain 2_228111604_G->T 2 228111604 228111604 G T snp 1439.77 1/1 99 43 0 43 1.0 ncRNA_intronic rs10168567 LOC654841 AU 0.776158 0.8978 0.745030 0.8060 0.8981 Uncertain 2_228111651_A->G 2 228111651 228111651 A G snp 637.77 1/1 48 18 0 18 1.0 ncRNA_intronic rs10192026 LOC654841 AU 0.796725 0.8978 Uncertain 2_228112186_A->G 2 228112186 228112186 A G snp 3100.77 1/1 99 107 0 107 1.0 ncRNA_intronic rs4321358 LOC654841 AU 0.989417 1 0.975033 Uncertain 2_228113175_A->G 2 228113175 228113175 A G snp 2343.77 1/1 99 89 0 89 1.0 exonic rs6436669 COL4A3 AR,AD nonsynonymous SNV NM_000091 exon9 c.A485G p.E162G 0.796326 0.8978 0.770131 0.8304 0.9138 0.71 T 0.000 P -0.962 T 0.019 T 0.011 T Pathogenic 2_228118403_T->G 2 228118403 228118403 T G snp 2762.77 1/1 99 87 0 87 1.0 ncRNA_intronic rs12621551 LOC654841 AU 0.786941 0.9187 0.772528 0.8128 0.9115 Uncertain 2_228119461_G->A 2 228119461 228119461 G A snp 1898.77 0/1 99 164 80 84 0.51 ncRNA_intronic rs35467545 LOC654841 AU 0.102236 0.1637 0.067404 0.0939 0.1565 Uncertain 2_228124702_A->G 2 228124702 228124702 A G snp 904.77 0/1 99 59 23 36 0.61 ncRNA_intronic rs4332918 LOC654841 AU 0.582268 0.5675 Uncertain 2_228128540_C->T 2 228128540 228128540 C T snp 3501.77 1/1 99 133 0 133 1.0 exonic rs10205042 COL4A3 AR,AD synonymous SNV NM_000091 exon21 c.C1195T p.L399L 0.767572 0.8621 0.718037 0.7667 0.8900 Uncertain 2_228128568_G->A 2 228128568 228128568 G A snp 1730.77 0/1 99 158 77 81 0.51 exonic rs34505188 COL4A3 AR,AD nonsynonymous SNV NM_000091 exon21 c.G1223A p.R408H 0.100639 0.1577 0.063256 0.0910 0.1557 0.3 T 0.002 P -0.722 T 0.999 D 0.912 D Pathogenic 2_228131169_A->G 2 228131169 228131169 A G snp 1496.77 0/1 99 119 52 67 0.56 exonic rs11677877 COL4A3 AR,AD nonsynonymous SNV NM_000091 exon22 c.A1352G p.H451R 0.111422 0.1577 0.073534 0.0944 0.1546 0.86 T 0.0 P -0.661 T 0.145 T 0.1 T ID=CM085146;DIS=Chronic obstructive pulmonary disease, association with;TAG=DP;PUB=18385178 DP Pathogenic 2_228131752_G->A 2 228131752 228131752 G A snp 2147.77 0/1 99 149 59 90 0.6 exonic rs34019152 COL4A3 AR,AD synonymous SNV NM_000091 exon23 c.G1452A p.G484G 0.105232 0.1577 0.068087 0.0923 0.1553 Uncertain 2_228131912_C->A 2 228131912 228131912 C A snp 765.77 0/1 99 62 31 31 0.5 ncRNA_intronic rs10933174 LOC654841 AU 0.354633 0.4464 Uncertain 2_228135631_C->T 2 228135631 228135631 C T snp 1085.77 0/1 99 96 49 47 0.49 exonic rs28381984 COL4A3 AR,AD nonsynonymous SNV NM_000091 exon25 c.C1721T p.P574L 0.39996 0.4752 0.389010 0.4694 0.4665 0.04 T 1.000 P -1.332 T 1.0 D 1.0 D Pathogenic 2_228137543_A->C 2 228137543 228137543 A C snp 392.77 0/1 99 22 7 15 0.68 ncRNA_intronic rs35793546 LOC654841 AU 0.0930511 0.1379 Uncertain 2_228144706_G->T 2 228144706 228144706 G T snp 406.77 0/1 99 47 28 19 0.4 ncRNA_intronic rs6729152 LOC654841 AU 0.909345 0.8641 Uncertain 2_228145543_C->T 2 228145543 228145543 C T snp 994.77 0/1 99 90 48 42 0.47 ncRNA_intronic rs6436671 LOC654841 AU 0.910144 0.8641 Uncertain 2_228149107_A->G 2 228149107 228149107 A G snp 606.77 0/1 99 42 17 25 0.6 ncRNA_intronic rs6436672 LOC654841 AU 0.814896 0.7381 0.878707 0.8831 0.7515 Uncertain 2_228154095_C->T 2 228154095 228154095 C T snp 71.77 0/1 99 11 8 3 0.27 ncRNA_intronic rs7593281 LOC654841 AU 0.748003 0.7371 Uncertain 2_228154137_A->G 2 228154137 228154137 A G snp 40.77 0/1 33 3 1 2 0.67 ncRNA_intronic rs7566682 LOC654841 AU 0.746206 0.7292 Uncertain 2_228158418_T->C 2 228158418 228158418 T C snp 509.77 0/1 99 50 25 25 0.5 ncRNA_intronic rs7569636 LOC654841 AU 0.90615 0.874 0.9107 0.8566 Uncertain 2_228158648_G->C 2 228158648 228158648 G C snp 194.77 0/1 99 11 5 6 0.55 ncRNA_intronic rs7608999 LOC654841 AU 0.844649 0.873 Uncertain 2_228159063_T->C 2 228159063 228159063 T C snp 514.77 1/1 39 15 0 15 1.0 ncRNA_intronic rs6436675 LOC654841 AU 1 1 Uncertain 2_228175311_C->T 2 228175311 228175311 C T snp 119.77 0/1 97 7 3 4 0.57 ncRNA_intronic rs10432551 LOC654841 AU 0.752396 0.7371 Uncertain 2_228194570_G->A 2 228194570 228194570 G A snp 2885.77 1/1 99 107 0 107 1.0 intronic rs6706656 MFF AU NM_001277061 exon3 c.38+71G>A 0.839856 0.874 0.878449 Uncertain 2_228194639_-->A 2 228194639 228194639 - A indel 307.73 1/1 39 24 0 24 1.0 intronic rs11384091 MFF AU NM_001277061 exon3 c.38+140insA 0.592851 0.6488 Uncertain 2_228197238_G->A 2 228197238 228197238 G A snp 1907.77 0/1 99 169 83 86 0.51 exonic rs11557342 MFF AU synonymous SNV NM_020194 exon5 c.G363A p.T121T 0.0890575 0.1022 0.082808 0.0900 0.0901 Uncertain 2_228197368_A->G 2 228197368 228197368 A G snp 2145.77 1/1 99 73 0 73 1.0 intronic rs4500938 MFF AU NM_001277068 exon3 c.1923+64A>G 0.839856 0.874 Uncertain 2_228197488_A->G 2 228197488 228197488 A G snp 56.74 1/1 6 2 0 2 1.0 intronic rs4444514 MFF AU NM_001277068 exon3 c.1923+184A>G 0.955671 0.999 Uncertain 2_228204929_C->T 2 228204929 228204929 C T snp 2297.77 1/1 99 92 0 92 1.0 intronic rs4420693 MFF AU NM_001277068 exon4 c.9626-78C>T 0.839657 0.874 Uncertain 2_228204982_C->T 2 228204982 228204982 C T snp 3169.77 1/1 99 123 0 123 1.0 intronic rs4442987 MFF AU NM_001277068 exon4 c.9626-25C>T 0.839657 0.874 0.862294 0.9042 0.8576 Uncertain 2_228207625_G->A 2 228207625 228207625 G A snp 2194.77 1/1 99 79 0 79 1.0 intronic rs6738078 MFF AU NM_001277061 exon7 c.13074+90G>A 0.730431 0.7817 Uncertain 2_228220528_T->C 2 228220528 228220528 T C snp 586.77 0/1 99 40 16 24 0.6 intronic rs12478005 MFF AU NM_001277068 exon7 c.25096+51T>C 0.335663 0.4355 0.304107 0.3470 0.4157 Uncertain 2_228356365_T->- 2 228356365 228356365 T - indel 325.79 0/1 19 34 5 29 0.85 intronic rs11289047 AGFG1 AU NM_001135187 exon2 c.19219+9delT 0.553914 0.5615 0.5184 0.5196 Uncertain 2_228373404_-->T 2 228373404 228373404 - T indel 297.25 1/1 9 27 2 25 0.93 intronic rs11464376 AGFG1 AU NM_001135187 exon3 c.47526-11259insT 0.525359 0.5734 0.4374 0.4182 Uncertain 2_228373418_C->T 2 228373418 228373418 C T snp 59.77 0/1 88 21 15 6 0.29 intronic rs200893041 AGFG1 AU NM_001135187 exon3 c.47526-11245C>T Uncertain 2_228399480_T->C 2 228399480 228399480 T C snp 1835.77 1/1 99 61 0 61 1.0 intronic rs7588620 AGFG1 AU NM_001135187 exon9 c.62423-80T>C 0.836462 0.7927 Uncertain 2_228416498_C->T 2 228416498 228416498 C T snp 379.77 1/1 30 10 0 10 1.0 intronic rs7598597 AGFG1 AU NM_001135187 exon12 c.79537-176C>T 0.671126 0.6885 Uncertain 2_228416712_A->G 2 228416712 228416712 A G snp 7890.77 1/1 99 250 1 249 1.0 exonic rs13426457 AGFG1 AU synonymous SNV NM_001135189 exon10 c.A1296G p.T432T 0.767173 0.6885 0.757112 0.7469 0.7023 1.000 P -1.084 T Likely benign 2_228476140_C->T 2 228476140 228476140 C T snp 876.77 0/1 99 92 51 41 0.45 exonic rs2176186 C2orf83 AU stopgain NM_020161 exon3 c.G423A p.W141X 0.313898 0.4058 0.280793 0.3089 0.4049 1 T 0.0 P Pathogenic 2_228476253_C->G 2 228476253 228476253 C G snp 2655.77 1/1 99 93 0 93 1.0 exonic rs2138402 C2orf83 AU nonsynonymous SNV NM_020161 exon3 c.G310C p.E104Q 0.841653 0.996 0.819160 0.8834 0.9995 1 T 0.0 P -0.960 T 0.0 T 0.0 T Pathogenic 2_228477814_G->C 2 228477814 228477814 G C snp 920.77 0/1 99 67 32 35 0.52 intronic rs7586824 C2orf83 AU NM_001162483 exon2 c.1384+64G>C 0.364217 0.376 Uncertain 2_228560801_A->- 2 228560801 228560801 A - indel 3409.73 1/1 99 110 0 110 1.0 splicing rs11334205 SLC19A3 AR NM_025243 exon3 c.8685+4delA 0.941294 1 0.938668 0.9833 1 Pathogenic 2_228560834_-->T 2 228560834 228560834 - T indel 1363.73 0/1 99 96 52 44 0.46 intronic rs398091128 SLC19A3 AR NM_025243 exon3 c.8685+37insT 0.119808 0.1885 0.095143 0.1406 0.1900 Uncertain 2_228567098_C->T 2 228567098 228567098 C T snp 700.77 0/1 99 51 22 29 0.57 intronic rs6713116 SLC19A3 AR NM_025243 exon5 c.14924+62C>T 0.178115 0.1875 Uncertain 2_228567112_T->- 2 228567112 228567112 T - indel 154.73 0/1 99 35 10 25 0.71 intronic rs71039629 SLC19A3 AR NM_025243 exon5 c.14924+76delT 0.61861 0.6468 Uncertain 2_228767618_T->C 2 228767618 228767618 T C snp 1965.77 1/1 99 52 0 52 1.0 intronic rs2949014 DAW1 AU NM_178821 exon7 c.31312-99T>C 0.967053 0.998 Uncertain 2_228767631_G->T 2 228767631 228767631 G T snp 2619.77 1/1 99 76 0 76 1.0 intronic rs2946931 DAW1 AU NM_178821 exon7 c.31312-86G>T 0.360024 0.3284 Uncertain 2_228771831_G->T 2 228771831 228771831 G T snp 181.77 0/1 99 108 83 25 0.23 intronic rs201191187 DAW1 AU NM_178821 exon10 c.35448-22G>T 0.0026 0 Uncertain 2_228776996_T->C 2 228776996 228776996 T C snp 2616.77 1/1 99 76 0 76 1.0 intronic rs3748862 DAW1 AU NM_178821 exon10 c.35563+5028T>C 0.416733 0.3442 0.5049 0.3470 0.17 T 0.0 P -0.916 T Uncertain 2_228783364_A->C 2 228783364 228783364 A C snp 636.77 1/1 48 16 0 16 1.0 intronic rs4973494 DAW1 AU NM_178821 exon11 c.47090-131A>C 0.863818 0.8056 Uncertain 2_228783479_C->A 2 228783479 228783479 C A snp 4895.77 1/1 99 185 1 184 0.99 intronic rs1533960 DAW1 AU NM_178821 exon11 c.47090-16C>A 0.166534 0.25 0.210288 0.2130 0.2643 Uncertain 2_228788484_T->C 2 228788484 228788484 T C snp 99.28 1/1 9 3 0 3 1.0 intronic rs1721344 DAW1 AU NM_178821 exon13 c.52244-165T>C 0.406949 0.3462 Uncertain 2_228855866_G->C 2 228855866 228855866 G C snp 1858.77 0/1 99 173 93 80 0.46 exonic rs16824283 SPHKAP AU nonsynonymous SNV NM_030623 exon10 c.C4722G p.S1574R 0.175519 0.2282 0.200984 0.2227 0.2293 0.04 T 0.0 P -1.030 T 0.966 D 0.787 D Pathogenic 2_228855958_T->C 2 228855958 228855958 T C snp 1522.77 0/1 99 142 73 69 0.49 intronic rs16824284 SPHKAP AU NM_001142644 exon3 c.9557-31T>C 0.255591 0.4375 0.201676 0.1928 0.4374 Uncertain 2_228882970_T->C 2 228882970 228882970 T C snp 2621.77 0/1 99 191 87 104 0.54 exonic rs3828161 SPHKAP AU nonsynonymous SNV NM_001142644 exon7 c.A2600G p.Q867R 0.246605 0.3998 0.203752 0.1922 0.4181 0.39 T 0.0 P -0.903 T 0.0 T 0.002 T Pathogenic 2_228883721_T->C 2 228883721 228883721 T C snp 1627.77 0/1 99 135 71 64 0.47 exonic rs3811514 SPHKAP AU nonsynonymous SNV NM_001142644 exon7 c.A1849G p.K617E 0.640974 0.624 0.579656 0.5738 0.6325 1 T 0.000 P -0.948 T 0.0 T 0.0 T Pathogenic 2_228973383_A->C 2 228973383 228973383 A C snp 517.77 0/1 99 25 10 15 0.6 intronic rs67714256 SPHKAP AU NM_001142644 exon10 c.127115-164A>C 0.370607 0.4901 Uncertain 2_228973660_A->G 2 228973660 228973660 A G snp 1395.77 0/1 99 112 57 55 0.49 splicing rs7561798 SPHKAP AU NM_001142644 exon10 c.127223+5A>G 0.478634 0.6756 0.433108 0.4953 0.6835 Pathogenic 2_228992850_T->C 2 228992850 228992850 T C snp 276.77 0/1 99 24 11 13 0.54 intronic rs6734166 SPHKAP AU NM_001142644 exon11 c.150263-3845T>C 0.367612 0.4921 Uncertain 2_228996637_G->A 2 228996637 228996637 G A snp 407.77 0/1 99 37 20 17 0.46 intronic rs4479423 SPHKAP AU NM_001142644 exon11 c.150263-58G>A 0.367212 0.4901 Uncertain 2_228996650_A->G 2 228996650 228996650 A G snp 592.77 0/1 99 47 24 23 0.49 intronic rs4353646 SPHKAP AU NM_001142644 exon11 c.150263-45A>G 0.367212 0.4901 0.335768 0.3600 0.5265 Uncertain 2_228996672_G->A 2 228996672 228996672 G A snp 813.77 0/1 99 61 30 31 0.51 intronic rs4585022 SPHKAP AU NM_001142644 exon11 c.150263-23G>A 0.347045 0.4901 0.315547 0.3523 0.5233 Uncertain 2_229035427_T->C 2 229035427 229035427 T C snp 133.03 1/1 12 4 0 4 1.0 intronic rs11685283 SPHKAP AU NM_001142644 exon12 c.199850-10855T>C 0.332867 0.3135 Uncertain 2_230020507_A->G 2 230020507 230020507 A G snp 177.77 0/1 99 17 9 8 0.47 intronic rs17614185 PID1 AU NM_001100818 exon2 c.130186-26A>G 0.153954 0.2629 0.078195 0.1108 0.2450 Uncertain 2_230092723_G->A 2 230092723 230092723 G A snp 1514.77 0/1 99 109 49 60 0.55 intronic rs1362242 PID1 AU NM_017933 exon3 c.237051-34675G>A 0.142173 0.2133 0.1705 0.2652 Uncertain 2_230092889_C->T 2 230092889 230092889 C T snp 1097.77 0/1 99 125 74 51 0.41 intronic rs1419944 PID1 AU NM_017933 exon3 c.237051-34509C>T 0.398363 0.6796 Uncertain 2_230092950_C->T 2 230092950 230092950 C T snp 434.77 0/1 99 48 31 17 0.35 intronic rs1419945 PID1 AU NM_017933 exon3 c.237051-34448C>T 0.397564 0.6796 Uncertain 2_230093003_G->A 2 230093003 230093003 G A snp 64.77 0/1 63 5 2 3 0.6 intronic rs1419946 PID1 AU NM_017933 exon3 c.237051-34395G>A 0.402356 0.6796 Uncertain 2_230096587_C->T 2 230096587 230096587 C T snp 183.77 0/1 99 22 13 9 0.41 intronic rs1226982 PID1 AU NM_017933 exon3 c.237051-30811C>T 0.358427 0.6726 Uncertain 2_230096837_C->T 2 230096837 230096837 C T snp 408.77 0/1 99 35 19 16 0.46 intronic rs6743582 PID1 AU NM_017933 exon3 c.237051-30561C>T 0.449481 0.2411 Uncertain 2_230135527_C->T 2 230135527 230135527 C T snp 293.78 1/1 24 9 0 9 1.0 intronic rs1227013 PID1 AU NM_001100818 exon3 c.245382-202C>T 0.975439 1 Uncertain 2_230135711_-->C 2 230135711 230135711 - C indel 1532.73 1/1 99 37 0 37 1.0 intronic rs67686611 PID1 AU NM_001100818 exon3 c.245382-18insC 1 1 0.999273 1 1 Uncertain 2_230231889_A->T 2 230231889 230231889 A T snp 601.77 0/1 99 62 37 25 0.4 intronic rs2302769 DNER AU NM_139072 exon2 c.8580+54A>T 0.546126 0.4008 Uncertain 2_230282624_G->A 2 230282624 230282624 G A snp 71.77 0/1 99 8 5 3 0.38 intronic rs6760224 DNER AU NM_139072 exon5 c.59568-199G>A 0.698283 0.3383 Uncertain 2_230411519_AGAC->- 2 230411519 230411522 AGAC - indel 610.73 0/1 99 26 12 14 0.54 intronic rs113820870 DNER AU NM_139072 exon9 c.188407-143_188407-140delAGAC Uncertain 2_230453214_-->A 2 230453214 230453214 - A indel 1269.73 1/1 99 63 0 63 1.0 intronic rs11458391 DNER AU NM_139072 exon11 c.229949+10insA 0.573283 0.5764 0.7596 0.7754 Uncertain 2_230655733_C->T 2 230655733 230655733 C T snp 2142.77 1/1 99 64 0 64 1.0 intronic rs722268 TRIP12 AU NM_004238 exon13 c.23570-106C>T 0.965855 0.999 Uncertain 2_230663443_A->C 2 230663443 230663443 A C snp 65.77 0/1 94 11 8 3 0.27 intronic rs6749045 TRIP12 AU NM_004238 exon20 c.31321-147A>C 0.294529 0.253 Uncertain 2_230663576_C->T 2 230663576 230663576 C T snp 1204.77 0/1 99 127 76 51 0.4 intronic rs6720868 TRIP12 AU NM_004238 exon20 c.31321-14C>T 0.336262 0.252 0.372905 0.3183 0.2238 Uncertain 2_230666898_A->G 2 230666898 230666898 A G snp 158.77 0/1 63 8 2 6 0.75 intronic rs10432554 TRIP12 AU NM_004238 exon22 c.34698-69A>G 0.310104 0.3968 Uncertain 2_230668858_T->C 2 230668858 230668858 T C snp 2047.77 0/1 99 167 77 90 0.54 exonic rs13018957 TRIP12 AU synonymous SNV NM_004238 exon18 c.A2511G p.T837T 0.350839 0.3581 0.390205 0.4262 0.3248 Uncertain 2_230668968_G->A 2 230668968 230668968 G A snp 1388.77 1/1 99 47 0 47 1.0 intronic rs4972915 TRIP12 AU NM_004238 exon24 c.36674+25G>A 0.815495 0.753 0.815621 0.7918 0.7088 Uncertain 2_230668982_T->G 2 230668982 230668982 T G snp 218.77 0/1 99 40 29 11 0.28 intronic rs4973229 TRIP12 AU NM_004238 exon24 c.36674+39T>G 0.349441 0.3581 0.373619 0.4249 0.3243 Uncertain 2_230675696_A->G 2 230675696 230675696 A G snp 2511.77 0/1 99 209 100 109 0.52 exonic rs75822370 TRIP12 AU synonymous SNV NM_004238 exon14 c.T1977C p.T659T 0.00559105 0.0248 0.000077 0.0020 0.0267 Uncertain 2_230701501_C->A 2 230701501 230701501 C A snp 1050.77 0/1 99 98 52 46 0.47 intronic rs2303560 TRIP12 AU NM_004238 exon37 c.69294-62C>A 0.0636981 0.1835 Uncertain 2_230705517_A->- 2 230705517 230705517 A - indel 277.73 0/1 99 53 33 20 0.38 intronic rs34481385 TRIP12 AU NM_004238 exon38 c.73268-20delA 0.330072 0.3581 0.320995 0.4152 0.3977 Uncertain 2_230744570_C->T 2 230744570 230744570 C T snp 224.84 1/1 18 6 0 6 1.0 intronic rs479492 TRIP12 AU NM_004238 exon40 c.112428-127C>T 0.97524 1 Uncertain 2_230787061_C->T 2 230787061 230787061 C T snp 43.77 0/1 72 4 2 2 0.5 upstream rs12993164 FBXO36 AU 0.221046 0.251 Uncertain 2_230841074_C->T 2 230841074 230841074 C T snp 744.77 0/1 99 102 66 36 0.35 intronic rs499449 FBXO36 AU NM_174899 exon2 c.53836+9C>T 0.283946 0.4256 0.225700 0.2469 0.4524 Uncertain 2_230914766_T->C 2 230914766 230914766 T C snp 776.77 1/1 57 20 0 20 1.0 intronic rs6748654 SLC16A14 AU NM_152527 exon3 c.12525+146T>C 0.866414 0.9921 Uncertain 2_230923648_C->G 2 230923648 230923648 C G snp 123.78 0/1 27 5 1 4 0.8 intronic rs9750739 SLC16A14 AU NM_152527 exon4 c.21714-161C>G 0.390575 0.1944 Uncertain 2_231050715_A->G 2 231050715 231050715 A G snp 6997.77 1/1 99 248 0 248 1.0 exonic rs3948464 SP110 AR,AU nonsynonymous SNV NM_004509 exon11 c.T1274C p.L425S 0.903954 0.995 0.862679 0.8869 0.9968 0.32 T 0.0 P -1.008 T 0.0 T 0.001 T CLINSIG=unknown;CLNDBN=Mycobacterium_tuberculosis\x2c_susceptibility_to;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000005877.4;CLNDSDB=MedGen:OMIM:Orphanet;CLNDSDBID=C1834752:607948:ORPHA3389 ID=CM066604;DIS=Tuberculosis, reduced susceptibility, association with;TAG=DP;PUB=16803959 DP Pathogenic 2_231067305_C->G 2 231067305 231067305 C G snp 2522.77 0/1 99 169 66 103 0.61 exonic rs7606916 SP110 AR,AU synonymous SNV NM_004509 exon9 c.G1038C p.S346S 0.0832668 0.0238 0.083961 0.0261 0.0190 Uncertain 2_231072709_C->T 2 231072709 231072709 C T snp 1202.77 0/1 99 120 66 54 0.45 exonic rs1365776 SP110 AR,AU nonsynonymous SNV NM_004509 exon8 c.G895A p.G299R 0.802516 0.8978 0.702293 0.7087 0.8933 0.46 T 0.0 P -0.995 T 0.0 T 0.001 T Pathogenic 2_231076032_G->T 2 231076032 231076032 G T snp 264.8 1/1 21 7 0 7 1.0 intronic rs3769837 SP110 AR,AU NM_001185015 exon10 c.34804-152G>T 0.762181 0.7887 Uncertain 2_231076289_T->G 2 231076289 231076289 T G snp 1595.77 0/1 99 141 74 67 0.48 intronic rs3820974 SP110 AR,AU NM_001185015 exon10 c.34888+21T>G 0.541733 0.6905 0.471936 0.4784 0.6912 Uncertain 2_231077360_A->G 2 231077360 231077360 A G snp 82.28 1/1 9 3 0 3 1.0 intronic rs6749386 SP110 AR,AU NM_001185015 exon12 c.36095-115A>G 0.950679 0.996 Uncertain 2_231077725_A->G 2 231077725 231077725 A G snp 1009.77 1/1 75 35 0 35 1.0 exonic rs1129411 SP110 AR,AU nonsynonymous SNV NM_004509 exon4 c.T334C p.W112R 0.951078 0.996 0.914809 0.9091 0.9977 0.35 T 0.000 P -1.026 T 0.003 T 0.002 T Pathogenic 2_231077868_A->G 2 231077868 231077868 A G snp 227.84 1/1 18 9 0 9 1.0 intronic rs7601176 SP110 AR,AU NM_001185015 exon12 c.36362+126A>G 0.772165 0.9067 Uncertain 2_231081405_T->C 2 231081405 231081405 T C snp 49.77 0/1 78 14 11 3 0.21 intronic rs7580912 SP110 AR,AU NM_001185015 exon14 c.40115-90T>C 0.355232 0.3234 Uncertain 2_231103185_A->G 2 231103185 231103185 A G snp 547.77 0/1 99 42 22 20 0.48 intronic rs2278197 SP140 AU NM_007237 exon3 c.12537+89A>G 0.58746 0.4058 Uncertain 2_231106244_G->C 2 231106244 231106244 G C snp 1075.77 0/1 99 78 37 41 0.53 intronic rs2288328 SP140 AU NM_007237 exon4 c.15643+42G>C 0.34385 0.3095 0.327861 0.3384 0.3215 Uncertain 2_231110497_G->A 2 231110497 231110497 G A snp 997.77 0/1 99 91 51 40 0.44 intronic rs56246923 SP140 AU NM_007237 exon7 c.20018-80G>A 0.076278 0.0972 Uncertain 2_231115524_A->T 2 231115524 231115524 A T snp 723.77 0/1 99 69 38 31 0.45 intronic rs72988209 SP140 AU NM_007237 exon10 c.25136-171A>T 0.11901 0.0962 Uncertain 2_231120258_G->T 2 231120258 231120258 G T snp 37.77 0/1 66 7 5 2 0.29 intronic rs201594901 SP140 AU NM_007237 exon12 c.29688+11G>T 0.170927 0.0952 0.0960 0.1013 Uncertain 2_231149108_G->A 2 231149108 231149108 G A snp 971.77 1/1 69 37 0 37 1.0 exonic rs4972946 SP140 AU nonsynonymous SNV NM_001278453 exon13 c.G1204A p.E402K 0.973842 0.998 0.940399 0.9399 0.9986 1 T 0.0 P -0.990 T 0.0 T 0.001 T Pathogenic 2_231155413_T->A 2 231155413 231155413 T A snp 2864.77 0/1 99 202 87 115 0.57 intronic rs3820976 SP140 AU NM_007237 exon19 c.64720+134T>A 0.162141 0.2708 Uncertain 2_231157271_T->C 2 231157271 231157271 T C snp 1024.77 0/1 99 71 33 38 0.54 intronic rs7602027 SP140 AU NM_007237 exon20 c.66801-89T>C 0.18151 0.2698 Uncertain 2_231157527_G->A 2 231157527 231157527 G A snp 182.9 1/1 15 5 0 5 1.0 intronic rs6739193 SP140 AU NM_007237 exon20 c.66944+24G>A 0.760184 0.5218 0.846989 0.7669 0.5246 Uncertain 2_231162341_G->T 2 231162341 231162341 G T snp 762.77 0/1 99 41 17 24 0.59 intronic rs13405136 SP140 AU NM_007237 exon22 c.71618+164G>T 0.475639 0.251 Uncertain 2_231175763_G->A 2 231175763 231175763 G A snp 871.77 0/1 99 78 42 36 0.46 intronic rs66642167 SP140 AU NM_007237 exon25 c.85309-105G>A 0.382788 0.1875 Uncertain 2_231222715_A->G 2 231222715 231222715 A G snp 953.77 0/1 99 50 18 32 0.64 intronic SP140L AU NM_138402 exon3 c.30698+33A>G Uncertain 2_231226488_C->T 2 231226488 231226488 C T snp 2198.77 0/1 99 195 99 96 0.49 intronic rs11891724 SP140L AU NM_138402 exon5 c.34428+76C>T 0.402955 0.5556 Uncertain 2_231327291_A->G 2 231327291 231327291 A G snp 782.77 0/1 99 108 72 36 0.33 intronic rs1649863 SP100 AU NM_001206703 exon9 c.46222+58A>G 0.262181 0.1766 0.254928 0.3194 0.1861 Uncertain 2_231331694_A->G 2 231331694 231331694 A G snp 237.77 0/1 99 15 7 8 0.53 intronic rs1678159 SP100 AU NM_001206703 exon12 c.50823-140A>G 0.664736 0.4683 Uncertain 2_231331701_-->G 2 231331701 231331701 - G indel 204.73 0/1 99 15 7 8 0.53 intronic rs3214547 SP100 AU NM_001206703 exon12 c.50823-133insG 0.664736 0.4683 Uncertain 2_231331799_T->C 2 231331799 231331799 T C snp 1322.77 0/1 99 136 79 57 0.42 intronic rs1649869 SP100 AU NM_001206703 exon12 c.50823-35T>C 0.669329 0.4891 0.715055 0.7204 0.4879 Uncertain 2_231331896_G->A 2 231331896 231331896 G A snp 2250.77 0/1 99 230 125 105 0.46 exonic rs1050224 SP100 AU synonymous SNV NM_001080391 exon13 c.G1257A p.S419S 0.664936 0.4772 0.712133 0.7189 0.4844 0.0 P -1.007 T Likely benign 2_231337960_C->T 2 231337960 231337960 C T snp 917.77 0/1 99 99 61 38 0.38 intronic rs1615190 SP100 AU NM_001206701 exon16 c.57027-78C>T 0.811701 0.4901 Uncertain 2_231363253_A->- 2 231363253 231363253 A - indel 331.82 0/1 17 22 3 19 0.86 splicing rs34979917 SP100 AU NM_001206701 exon19 c.82239+3delA 0.583466 0.4355 0.6081 0.5036 Pathogenic 2_231683488_TT->- 2 231683488 231683489 TT - indel 930.73 0/1 99 51 27 24 0.47 UTR3 rs16836174 CAB39 AU 0.0892572 0.1121 Uncertain 2_231738168_G->A 2 231738168 231738168 G A snp 2526.77 1/1 99 92 0 92 1.0 exonic rs2289235 ITM2C AU nonsynonymous SNV NM_030926 exon2 c.G157A p.G53S 0.510583 0.8135 0.405505 0.5206 0.8503 1 T 0.000 P -0.974 T 0.001 T 0.001 T Pathogenic 2_231738263_C->T 2 231738263 231738263 C T snp 3134.77 1/1 99 123 0 123 1.0 exonic rs2289234 ITM2C AU synonymous SNV NM_030926 exon2 c.C252T p.F84F 0.509784 0.8155 0.404275 0.5193 0.8485 Uncertain 2_231738269_G->A 2 231738269 231738269 G A snp 2973.77 1/1 99 117 0 117 1.0 exonic rs2289233 ITM2C AU synonymous SNV NM_030926 exon2 c.G258A p.A86A 0.509385 0.8135 0.404890 0.5193 0.8487 Uncertain 2_231738318_T->C 2 231738318 231738318 T C snp 2416.77 1/1 99 83 0 83 1.0 intronic rs3816150 ITM2C AU NM_001287240 exon2 c.75+46T>C 0.510383 0.8155 0.405678 0.5187 0.8510 Uncertain 2_231738466_A->C 2 231738466 231738466 A C snp 41.74 1/1 6 2 0 2 1.0 intronic rs6436977 ITM2C AU NM_001287240 exon2 c.75+194A>C 0.550719 0.8135 Uncertain 2_231740276_A->G 2 231740276 231740276 A G snp 438.77 1/1 36 13 0 13 1.0 intronic rs2289231 ITM2C AU NM_001287240 exon3 c.2137-58A>G 0.608826 0.8571 Uncertain 2_231742864_G->A 2 231742864 231742864 G A snp 607.77 0/1 99 46 22 24 0.52 UTR3 rs62195287 ITM2C AU 0.120407 0.1131 0.125327 0.1304 0.1404 Uncertain 2_231774844_G->A 2 231774844 231774844 G A snp 3213.77 0/1 99 222 94 128 0.58 exonic rs2396777 GPR55 AU synonymous SNV NM_005683 exon2 c.C834T p.N278N 0.345647 0.2331 0.307320 0.2180 0.2096 Uncertain 2_231775144_G->A 2 231775144 231775144 G A snp 2067.77 0/1 99 170 84 86 0.51 exonic rs1992187 GPR55 AU synonymous SNV NM_005683 exon2 c.C534T p.S178S 0.0533147 0.0744 0.044210 0.0555 0.0658 Uncertain 2_231775297_T->G 2 231775297 231775297 T G snp 3024.77 0/1 99 211 89 122 0.58 exonic rs1992186 GPR55 AU synonymous SNV NM_005683 exon2 c.A381C p.L127L 0.496206 0.2679 0.529679 0.3909 0.2476 Uncertain 2_231860838_C->T 2 231860838 231860838 C T snp 308.78 1/1 24 11 0 11 1.0 upstream rs2271369 SPATA3 AU 0.750998 0.8046 Uncertain 2_231860848_A->G 2 231860848 231860848 A G snp 389.77 1/1 30 15 0 15 1.0 UTR5 rs6722863 SPATA3 AU 0.970647 0.998 Uncertain 2_231861033_CAGCAGCCTAGCCCTGAATCCACACCA->- 2 231861033 231861059 CAGCAGCCTAGCCCTGAATCCACACCA - indel 24035.7 1/1 99 132 2 130 0.98 exonic rs72362780 SPATA3 AU nonframeshift deletion NM_139073 exon1 c.85_111del p.29_37del 0.467771 0.5020 0.6497 ID=COSM1406147;OCCURENCE=36(large_intestine),3(upper_aerodigestive_tract) Uncertain 2_231861071_T->C 2 231861071 231861071 T C snp 134.77 0/1 99 194 163 31 0.16 exonic rs61738380 SPATA3 AU synonymous SNV NM_139073 exon1 c.T123C p.S41S 0.0002 0 Uncertain 2_231864490_T->C 2 231864490 231864490 T C snp 1106.77 0/1 99 114 66 48 0.42 intronic rs77065513 SPATA3 AU NM_139073 exon2 c.4132-590T>C 0.0561102 0.1558 Uncertain 2_231865144_G->C 2 231865144 231865144 G C snp 2309.77 0/1 99 197 105 92 0.47 exonic rs12105962 SPATA3 AU nonsynonymous SNV NM_139073 exon2 c.G365C p.C122S 0.216653 0.1736 0.233903 0.2301 0.1743 0.02 T 0.974 P -1.041 T 1.0 D 0.998 D Pathogenic 2_231867220_A->G 2 231867220 231867220 A G snp 457.77 1/1 36 12 0 12 1.0 intronic rs10933364 SPATA3 AU NM_139073 exon3 c.6450-178A>G 0.809704 0.8016 Uncertain 2_231902316_T->C 2 231902316 231902316 T C snp 373.77 0/1 99 40 23 17 0.42 exonic rs186173488 C2orf72 AU synonymous SNV NM_001144994 exon1 c.T36C p.L12L 0.572484 0.623 0.4717 0.7778 Uncertain 2_231905886_T->G 2 231905886 231905886 T G snp 411.77 0/1 99 47 30 17 0.36 intronic rs2279999 C2orf72 AU NM_001144994 exon2 c.3730-124T>G 0.053115 0.1389 Uncertain 2_231944373_A->T 2 231944373 231944373 A T snp 340.77 0/1 99 36 19 17 0.47 intronic rs2303353 PSMD1 AU NM_001191037 exon11 c.22589+45A>T 0.554313 0.6071 0.449400 0.4224 0.5960 Uncertain 2_231947432_C->A 2 231947432 231947432 C A snp 167.77 0/1 99 12 6 6 0.5 intronic rs2007131 PSMD1 AU NM_001191037 exon13 c.25857-164C>A 0.575679 0.6071 Uncertain 2_231948178_A->G 2 231948178 231948178 A G snp 41.77 0/1 66 4 2 2 0.5 intronic rs906879 PSMD1 AU NM_001191037 exon14 c.26541-102A>G 0.579673 0.6151 Uncertain 2_231949946_G->A 2 231949946 231949946 G A snp 782.77 0/1 99 69 38 31 0.45 intronic rs2303357 PSMD1 AU NM_001191037 exon15 c.28089+118G>A 0.54393 0.6141 Uncertain 2_232030510_C->A 2 232030510 232030510 C A snp 154.84 0/1 18 6 1 5 0.83 intronic rs2303351 PSMD1 AU NM_001191037 exon22 c.108845-74C>A 0.580471 0.621 Uncertain 2_232030555_G->A 2 232030555 232030555 G A snp 284.77 0/1 99 25 13 12 0.48 intronic rs2303350 PSMD1 AU NM_001191037 exon22 c.108845-29G>A 0.576478 0.621 0.470837 0.5070 0.6450 Uncertain 2_232030861_A->G 2 232030861 232030861 A G snp 237.84 0/1 18 9 1 8 0.89 intronic rs2303349 PSMD1 AU NM_001191037 exon22 c.108992+130A>G 0.514577 0.622 Uncertain 2_232035429_G->A 2 232035429 232035429 G A snp 346.77 0/1 99 40 25 15 0.38 UTR3 rs6749 PSMD1 AU 0.579872 0.619 0.486160 0.4283 0.6051 Uncertain 2_232087474_A->G 2 232087474 232087474 A G snp 1079.77 1/1 78 38 0 38 1.0 exonic rs1626450 ARMC9 AU nonsynonymous SNV NM_001291656 exon6 c.A538G p.I180V 1 1 0.992842 0.9999 1 0.02 T 0.000 P -0.955 T 0.005 T 0.027 T Pathogenic 2_232087475_T->A 2 232087475 232087475 T A snp 1071.77 1/1 78 38 0 38 1.0 exonic rs1626451 ARMC9 AU nonsynonymous SNV NM_001291656 exon6 c.T539A p.I180K 1 1 0.999769 0.9999 1 0.16 T 0.286 P -0.953 T 0.0 T 0.002 T Pathogenic 2_232196472_T->A 2 232196472 232196472 T A snp 1072.77 0/1 99 79 38 41 0.52 intronic rs1729082 ARMC9 AU NM_001271466 exon19 c.125553-32T>A 0.242612 0.2212 0.258342 0.2985 0.2656 Uncertain 2_232196564_C->T 2 232196564 232196564 C T snp 1622.77 0/1 99 161 93 68 0.42 exonic rs1669083 ARMC9 AU synonymous SNV NM_001291656 exon20 c.C1833T p.L611L 0.26238 0.2212 0.277718 0.3034 0.2599 Uncertain 2_232196597_G->A 2 232196597 232196597 G A snp 1685.77 0/1 99 176 105 71 0.4 exonic rs1669084 ARMC9 AU synonymous SNV NM_001291656 exon20 c.G1866A p.T622T 0.294329 0.2222 0.323082 0.3409 0.2633 Uncertain 2_232196817_T->C 2 232196817 232196817 T C snp 71.77 0/1 99 10 7 3 0.3 intronic rs567432484 ARMC9 AU NM_001271466 exon19 c.125658+208T>C 0.000798722 0.004 Uncertain 2_232225535_-->G 2 232225535 232225535 - G indel 1416.73 1/1 99 39 0 39 1.0 exonic rs35889244 ARMC9 AU unknown 1 1 1 1 ID=COSM1017734;OCCURENCE=2(endometrium) Uncertain 2_232234493_C->T 2 232234493 232234493 C T snp 335.77 0/1 99 16 5 11 0.69 intronic rs149513597 ARMC9 AU NM_001271466 exon23 c.163712-170C>T 0.0609026 0.129 Uncertain 2_232245645_C->T 2 232245645 232245645 C T snp 846.77 0/1 99 75 33 42 0.56 intergenic rs186478706 ARMC9 AU 0.00239617 0.0119 0.0005 0.02 Uncertain 2_232263127_G->A 2 232263127 232263127 G A snp 2985.77 0/1 99 250 119 131 0.52 exonic rs2290130 B3GNT7 AU nonsynonymous SNV NM_145236 exon2 c.G697A p.V233I 0.233227 0.2381 0.213162 0.2468 0.2643 0.2 T 0.000 P -0.996 T 0.954 T 0.297 D Pathogenic 2_232317403_A->- 2 232317403 232317403 A - indel 1431.73 0/1 99 76 36 40 0.53 intergenic rs11295750 B3GNT7 AU 0.235823 0.0556 0.2365 0.0724 Uncertain 2_232320856_-->A 2 232320856 232320856 - A indel 419.73 0/1 99 38 14 24 0.63 intronic rs150234462 NCL AU NM_005381 exon3 c.946+9insA 0.238618 0.0625 0.320795 0.2670 0.0694 ID=COSM327970;OCCURENCE=1(pancreas) Uncertain 2_232321956_C->T 2 232321956 232321956 C T snp 1972.77 0/1 99 139 68 71 0.51 intronic rs7598759 NCL AU NM_005381 exon5 c.1934+121C>T 0.486422 0.4911 0.4985 0.5764 Uncertain 2_232322829_T->C 2 232322829 232322829 T C snp 191.77 0/1 99 9 3 6 0.67 intronic rs6712148 NCL AU NM_005381 exon7 c.3075-147T>C 0.176917 0.0645 Uncertain 2_232325692_A->C 2 232325692 232325692 A C snp 481.77 0/1 99 34 18 16 0.47 intronic rs12996154 NCL AU NM_005381 exon11 c.5676+115A>C 0.20008 0.1329 Uncertain 2_232326801_A->T 2 232326801 232326801 A T snp 1378.77 0/1 99 139 75 64 0.46 intronic rs2595514 NCL AU NM_005381 exon12 c.6827+73A>T 0.736422 0.7847 0.672829 0.6956 0.8076 Uncertain 2_232326874_TC->- 2 232326874 232326875 TC - indel 761.73 0/1 99 43 24 19 0.44 intronic rs147456242 NCL AU NM_005381 exon12 c.6827+146_6827+147delTC 0.110823 0.0575 Uncertain 2_232378231_T->C 2 232378231 232378231 T C snp 1968.77 0/1 99 245 149 96 0.39 ncRNA_intronic rs6750795 LINC00471 AU 0.599042 0.7411 0.512686 0.5916 0.7243 Uncertain 2_232389744_A->G 2 232389744 232389744 A G snp 742.77 0/1 99 64 33 31 0.48 UTR3 rs3752762 NMUR1 AU 0.35004 0.5099 0.239966 0.3418 0.5140 Uncertain 2_232390151_A->G 2 232390151 232390151 A G snp 878.77 0/1 99 57 28 29 0.51 intronic rs3752763 NMUR1 AU NM_006056 exon1 c.383+15A>G 0.34984 0.5099 0.237036 0.3488 0.5153 Uncertain 2_232458443_T->C 2 232458443 232458443 T C snp 5860.77 1/1 99 189 0 189 1.0 exonic rs10933378 C2orf57 AU nonsynonymous SNV NM_152614 exon1 c.T781C p.S261P 0.928315 0.997 0.915193 0.9209 0.9988 0.82 T 0.0 P -1.003 T 0.001 T 0.004 T Pathogenic 2_232894644_T->C 2 232894644 232894644 T C snp 847.77 0/1 99 86 50 36 0.42 intronic rs77132797 DIS3L2 AR NM_001257282 exon5 c.15051-44T>C 0.00459265 0.0159 0.000169 0.0020 0.0226 Uncertain 2_233201328_A->G 2 233201328 233201328 A G snp 1905.77 1/1 99 71 0 71 1.0 exonic rs3811578 DIS3L2 AR synonymous SNV NM_152383 exon21 c.A2646G p.S882S 0.202077 0.4484 0.099470 0.1425 0.4689 0.999 P -0.888 T Likely benign 2_233243586_C->T 2 233243586 233243586 C T snp 941.77 0/1 99 105 62 43 0.41 exonic rs1130335 ALPP AU nonsynonymous SNV NM_001632 exon1 c.C74T p.P25L 0.0844649 0.2153 0.067738 0.0819 0.2248 0.03 T 0.852 P -1.033 T 1.0 D 0.994 D CLINSIG=non-pathogenic|pathogenic,non-pathogenic|pathogenic;CLNDBN=ALKALINE_PHOSPHATASE\x2c_PLACENTAL\x2c_ALLELE-1_POLYMORPHISM|ALPP*1,ALKALINE_PHOSPHATASE\x2c_PLACENTAL\x2c_ALLELE-3_POLYMORPHISM|ALPP*3;CLNREVSTAT=no_assertion_criteria_provided|no_assertion_criteria_provided,no_assertion_criteria_provided|no_assertion_criteria_provided;CLNACC=RCV000014644.1|RCV000014645.24,RCV000014646.1|RCV000014647.24;CLNDSDB=.|.,.|.;CLNDSDBID=.|.,.|. Pathogenic 2_233243645_C->A 2 233243645 233243645 C A snp 572.77 0/1 99 96 69 27 0.28 intronic rs3748969 ALPP AU NM_001632 exon2 c.168-35C>A 0.0846645 0.2173 0.063278 0.0801 0.2142 Uncertain 2_233243660_T->C 2 233243660 233243660 T C snp 2604.77 1/1 99 99 0 99 1.0 intronic rs2014448 ALPP AU NM_001632 exon2 c.168-20T>C 0.949681 0.9415 0.946017 0.9243 0.9192 Uncertain 2_233243981_A->T 2 233243981 233243981 A T snp 2452.77 0/1 99 199 88 111 0.56 exonic rs13026692 ALPP AU nonsynonymous SNV NM_001632 exon3 c.A265T p.I89L 0.388778 0.5377 0.299708 0.3619 0.5126 0.02 T 0.000 P -0.912 T 0.0 T 0.001 T ID=CM143199;DIS=Recurrent spontaneous abortion, decreased risk;TAG=DFP;PUB=24296104 DFP Pathogenic 2_233244325_G->A 2 233244325 233244325 G A snp 2728.77 0/1 99 236 115 121 0.51 exonic rs537013204 ALPP AU nonsynonymous SNV NM_001632 exon4 c.G412A p.A138T 0.000199681 0.001 3.342e-05 0.0002 0.3 T 1.000 D 0.624 D 0.995 D 0.758 D Pathogenic 2_233244586_C->G 2 233244586 233244586 C G snp 2805.77 1/1 99 88 0 88 1.0 exonic rs2853374 ALPP AU synonymous SNV NM_001632 exon5 c.C597G p.S199S 0.948083 0.9345 0.946222 0.9234 0.9175 Uncertain 2_233244703_T->C 2 233244703 233244703 T C snp 190.77 0/1 99 23 13 10 0.43 intronic rs12620827 ALPP AU NM_001632 exon5 c.1134+57T>C 0.0890575 0.2173 Uncertain 2_233244777_T->C 2 233244777 233244777 T C snp 445.77 0/1 99 25 9 16 0.64 intronic rs12620832 ALPP AU NM_001632 exon6 c.1383-118T>C 0.120607 0.2183 Uncertain 2_233244843_G->A 2 233244843 233244843 G A snp 938.77 0/1 99 72 32 40 0.56 intronic rs55977653 ALPP AU NM_001632 exon6 c.1383-52G>A 0.0850639 0.2173 Uncertain 2_233245026_G->A 2 233245026 233245026 G A snp 859.77 0/1 99 86 48 38 0.44 exonic rs2853378 ALPP AU nonsynonymous SNV NM_001632 exon6 c.G788A p.R263H 0.10004 0.2242 0.0915 0.2257 0.93 T 0.0 P -0.828 T 0.007 T 0.001 T Pathogenic 2_233245045_C->T 2 233245045 233245045 C T snp 588.77 0/1 99 68 38 30 0.44 intronic rs28733638 ALPP AU NM_001632 exon6 c.1518+15C>T 0.0730831 0.1667 0.068046 0.0774 0.1646 Uncertain 2_233245090_A->G 2 233245090 233245090 A G snp 1717.77 1/1 99 71 0 71 1.0 intronic rs2260307 ALPP AU NM_001632 exon7 c.1617-39A>G 0.624002 0.7986 0.5890 0.7799 Uncertain 2_233245141_T->C 2 233245141 233245141 T C snp 1969.77 1/1 99 86 0 86 1.0 exonic rs2260309 ALPP AU synonymous SNV NM_001632 exon7 c.T804C p.Y268Y 0.550131 0.6100 0.7911 ID=CM143200;DIS=Recurrent spontaneous abortion, increased risk;TAG=DP;PUB=24296104 DP Uncertain 2_233245532_C->A 2 233245532 233245532 C A snp 330.77 0/1 99 132 101 31 0.23 intronic rs199734834 ALPP AU NM_001632 exon9 c.2037-17C>A 0.1071 0.2488 Uncertain 2_233271438_C->T 2 233271438 233271438 C T snp 86.77 0/1 33 7 2 5 0.71 upstream rs139390240 ALPPL2 AU 0.0914537 0.2153 Uncertain 2_233271697_-->ACAC 2 233271697 233271697 - ACAC indel 1861.73 0/1 99 89 42 47 0.53 intronic rs3830644 ALPPL2 AU NM_031313 exon1 c.67+26insACAC 0.0607029 0.1498 0.0735 0.1741 Uncertain 2_233271763_C->A 2 233271763 233271763 C A snp 1044.77 0/1 99 102 57 45 0.44 splicing rs111524519 ALPPL2 AU NM_031313 exon2 c.162-3C>A 0.0870607 0.1964 0.069660 0.0820 0.2012 Pathogenic 2_233272146_G->C 2 233272146 233272146 G C snp 1358.77 0/1 99 124 68 56 0.45 intronic rs2945420 ALPPL2 AU NM_031313 exon3 c.507+35G>C 0.0922524 0.2153 0.073439 0.0897 0.2302 Uncertain 2_233273244_C->A 2 233273244 233273244 C A snp 1330.77 0/1 99 134 62 72 0.54 exonic rs17416141 ALPPL2 AU nonsynonymous SNV NM_031313 exon7 c.C817A p.L273M 0.344649 0.4345 0.273380 0.2448 0.3971 0.31 T 0.0 P -1.026 T 0.056 T 0.16 T Pathogenic 2_233273504_T->G 2 233273504 233273504 T G snp 250.78 1/1 24 22 0 22 1.0 exonic rs183793479 ALPPL2 AU nonsynonymous SNV NM_031313 exon8 c.T947G p.L316R 0.598442 0.7639 0.0146 0.0263 1 T 0.0 P -0.948 T 0.0 T 0.0 T Pathogenic 2_233274145_G->C 2 233274145 233274145 G C snp 2582.77 1/1 99 92 0 92 1.0 exonic rs2090543 ALPPL2 AU synonymous SNV NM_031313 exon10 c.G1287C p.T429T 0.76897 0.8988 0.4996 0.6955 Uncertain 2_233274475_C->A 2 233274475 233274475 C A snp 1233.77 0/1 99 85 36 49 0.58 exonic rs56080708 ALPPL2 AU nonsynonymous SNV NM_031313 exon11 c.C1492A p.R498S 0.0952476 0.2133 0.081372 0.1021 0.2501 0.91 T 0.0 P -0.946 T 0.001 T 0.002 T Pathogenic 2_233310297_T->C 2 233310297 233310297 T C snp 489.77 0/1 99 50 24 26 0.52 intergenic rs796887 ALPPL2 AU 0.590056 0.63 Uncertain 2_233310369_T->C 2 233310369 233310369 T C snp 226.77 0/1 99 34 19 15 0.44 intergenic rs56139742 ALPPL2 AU 0.633986 0.6339 Uncertain 2_233310423_C->T 2 233310423 233310423 C T snp 156.77 0/1 99 20 11 9 0.45 intergenic rs56365137 ALPPL2 AU 0.583267 0.6339 Uncertain 2_233310491_C->T 2 233310491 233310491 C T snp 32.77 0/1 61 6 3 3 0.5 intergenic rs56377723 ALPPL2 AU 0.551917 0.621 Uncertain 2_233345249_C->A 2 233345249 233345249 C A snp 1447.77 1/1 99 48 0 48 1.0 intronic rs1190432 ECEL1 AR NM_004826 exon2 c.323+64C>A 0.182308 0.2183 Uncertain 2_233346382_C->- 2 233346382 233346382 C - indel 1446.73 1/1 99 47 0 47 1.0 intronic rs11285283 ECEL1 AR NM_004826 exon5 c.1478+42delC 0.190495 0.2649 0.175000 0.2171 0.2551 Uncertain 2_233346662_A->C 2 233346662 233346662 A C snp 728.77 1/1 54 26 0 26 1.0 intronic rs909432 ECEL1 AR NM_004826 exon6 c.1697+103A>C 0.95627 0.9802 Uncertain 2_233347919_C->G 2 233347919 233347919 C G snp 2922.77 1/1 99 107 0 107 1.0 intronic rs6750085 ECEL1 AR NM_004826 exon10 c.3027+30C>G 0.314097 0.2698 0.362117 0.4320 0.3150 Uncertain 2_233349588_G->A 2 233349588 233349588 G A snp 7405.77 1/1 99 243 0 243 1.0 exonic rs1529874 ECEL1 AR nonsynonymous SNV NM_004826 exon5 c.C982T p.H328Y 0.96266 1 0.958019 0.9832 1 0.52 T 0.000 P -0.953 T 0.0 T 0.0 T CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000116938.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 2_233350000_C->G 2 233350000 233350000 C G snp 661.77 1/1 51 23 0 23 1.0 intronic rs2573246 ECEL1 AR NM_004826 exon16 c.5115+23C>G 0.673922 0.7609 0.647470 0.7211 0.7427 Uncertain 2_233385202_C->T 2 233385202 233385202 C T snp 566.77 0/1 99 39 18 21 0.54 UTR5 rs2741294 PRSS56 AR 0.306709 0.4494 Uncertain 2_233385396_G->A 2 233385396 233385396 G A snp 2059.77 1/1 99 76 0 76 1.0 exonic rs1550094 PRSS56 AR nonsynonymous SNV NM_001195129 exon1 c.G88A p.A30T 0.665735 0.8869 0.6864 0.8824 Pathogenic 2_233386148_C->G 2 233386148 233386148 C G snp 1505.77 0/1 99 147 82 65 0.44 intronic rs77311538 PRSS56 AR NM_001195129 exon2 c.830+10C>G 0.0179712 0.0863 0.0029 0.1 Uncertain 2_233386229_T->C 2 233386229 233386229 T C snp 2239.77 1/1 99 75 0 75 1.0 intronic rs2853444 PRSS56 AR NM_001195129 exon2 c.830+91T>C 0.859225 0.9474 Uncertain 2_233386328_C->T 2 233386328 233386328 C T snp 186.77 0/1 99 12 6 6 0.5 intronic rs2741295 PRSS56 AR NM_001195129 exon2 c.830+190C>T 0.174321 0.3046 Uncertain 2_233386583_T->C 2 233386583 233386583 T C snp 1645.77 0/1 99 136 69 67 0.49 intronic rs2853445 PRSS56 AR NM_001195129 exon3 c.1268+7T>C 0.444688 0.5218 0.3837 0.4950 Uncertain 2_233387007_A->G 2 233387007 233387007 A G snp 180.9 1/1 15 5 0 5 1.0 intronic rs2741297 PRSS56 AR NM_001195129 exon4 c.1562+137A>G 0.767572 0.9365 Uncertain 2_233387635_A->G 2 233387635 233387635 A G snp 2732.77 1/1 99 86 0 86 1.0 intronic rs733603 PRSS56 AR NM_001195129 exon6 c.2263+64A>G 0.861022 0.9425 Uncertain 2_233388311_C->T 2 233388311 233388311 C T snp 313.77 0/1 99 30 15 15 0.5 intronic rs733602 PRSS56 AR NM_001195129 exon8 c.2980+23C>T 0.280751 0.3581 0.3496 0.4 Uncertain 2_233388813_T->G 2 233388813 233388813 T G snp 1317.77 1/1 96 46 0 46 1.0 exonic rs2741299 PRSS56 AR synonymous SNV NM_001195129 exon10 c.T1251G p.P417P 0.861621 0.9494 0.8704 0.9333 Uncertain 2_233389167_G->C 2 233389167 233389167 G C snp 197.77 0/1 99 13 5 8 0.62 intronic rs58091792 PRSS56 AR NM_001195129 exon11 c.3771+88G>C 0.290335 0.3651 Uncertain 2_233389918_A->G 2 233389918 233389918 A G snp 2562.77 1/1 99 90 0 90 1.0 intronic rs2853447 PRSS56 AR NM_001195129 exon13 c.4617-7A>G 0.707668 0.7788 0.7838 0.8370 Uncertain 2_233390937_A->G 2 233390937 233390937 A G snp 1453.77 1/1 99 50 0 50 1.0 exonic rs2245601 CHRND AR,AD synonymous SNV NM_000751 exon1 c.A12G p.P4P 0.483427 0.6518 0.448708 0.5010 0.6895 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000116730.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 2_233391463_A->G 2 233391463 233391463 A G snp 1031.77 0/1 99 61 18 43 0.7 intronic rs2278478 CHRND AR,AD NM_000751 exon2 c.459+79A>G 0.272564 0.3591 Uncertain 2_233391965_A->G 2 233391965 233391965 A G snp 43.77 0/1 72 8 5 3 0.38 intronic rs4973537 CHRND AR,AD NM_000751 exon3 c.1185-145A>G 0.422524 0.5526 Uncertain 2_233400074_A->G 2 233400074 233400074 A G snp 774.77 0/1 99 58 28 30 0.52 UTR3 rs2767 CHRND AR,AD 0.415935 0.5595 0.336084 0.4119 0.5654 Uncertain 2_233404294_C->G 2 233404294 233404294 C G snp 204.77 0/1 99 24 17 7 0.29 upstream rs11674608 CHRNG AR 0.415535 0.5605 Uncertain 2_233404334_-->GGGCTGGCT 2 233404334 233404334 - GGGCTGGCT indel 1526.73 0/1 99 51 32 19 0.37 upstream rs140146282 CHRNG AR 0.248203 0.3294 Uncertain 2_233404590_G->C 2 233404590 233404590 G C snp 386.77 0/1 99 21 7 14 0.67 intronic rs12996322 CHRNG AR NM_005199 exon1 c.55+78G>C 0.348842 0.4524 Uncertain 2_233406998_T->G 2 233406998 233406998 T G snp 214.84 1/1 18 6 0 6 1.0 intronic rs1881492 CHRNG AR NM_005199 exon6 c.2675-134T>G 0.818291 0.8651 Uncertain 2_233407120_C->T 2 233407120 233407120 C T snp 1197.77 0/1 99 124 73 51 0.41 intronic rs2853462 CHRNG AR NM_005199 exon6 c.2675-12C>T 0.171126 0.2867 0.203983 0.2328 0.3092 Uncertain 2_233407516_G->C 2 233407516 233407516 G C snp 40.77 0/1 69 5 3 2 0.4 intronic rs2697782 CHRNG AR NM_005199 exon7 c.3134-75G>C 0.328874 0.3224 Uncertain 2_233408190_-->C 2 233408190 233408190 - C indel 1272.73 0/1 99 111 55 56 0.5 intronic rs34697564 CHRNG AR NM_005199 exon8 c.3642+91insC 0.278554 0.381 Uncertain 2_233408221_G->- 2 233408221 233408221 G - indel 5668.73 1/1 99 165 0 165 1.0 intronic rs10714586 CHRNG AR NM_005199 exon9 c.3837-73delG Uncertain 2_233408239_C->G 2 233408239 233408239 C G snp 6291.77 1/1 99 207 0 207 1.0 intronic rs2573206 CHRNG AR NM_005199 exon9 c.3837-55C>G 0.86222 0.9692 Uncertain 2_233408283_C->T 2 233408283 233408283 C T snp 3422.77 0/1 99 250 110 140 0.56 intronic rs13018423 CHRNG AR NM_005199 exon9 c.3837-11C>T 0.297324 0.4226 0.218284 0.3089 0.4545 Uncertain 2_233409013_G->A 2 233409013 233409013 G A snp 451.77 0/1 99 29 13 16 0.55 intronic rs2250451 CHRNG AR NM_005199 exon10 c.4619-63G>A 0.171725 0.2857 Uncertain 2_233414341_C->T 2 233414341 233414341 C T snp 46.77 0/1 75 6 3 3 0.5 exonic rs4973540 TIGD1 AU synonymous SNV NM_145702 exon1 c.G252A p.K84K 0.411741 0.4851 0.5457 0.5485 Uncertain 2_233415978_T->C 2 233415978 233415978 T C snp 1399.77 0/1 99 135 77 58 0.43 intronic rs11899983 EIF4E2 AU NM_004846 exon1 c.20+524T>C 0.61242 0.5724 0.5563 0.5553 Uncertain 2_233421285_T->- 2 233421285 233421285 T - indel 1951.73 0/1 99 137 75 62 0.45 intronic rs3830645 EIF4E2 AU NM_004846 exon2 c.5806+45delT 0.815296 0.6726 0.775336 0.7639 0.6719 Uncertain 2_233438786_G->A 2 233438786 233438786 G A snp 335.77 0/1 99 20 8 12 0.6 intronic rs2293338 EIF4E2 AU NM_001282958 exon7 c.23538-186G>A 0.179513 0.3254 0.1857 0.3539 Uncertain 2_233470843_G->A 2 233470843 233470843 G A snp 4354.77 1/1 99 160 0 160 1.0 UTR5 rs7571133 EFHD1 AU 0.472045 0.2272 0.4412 0.25 Uncertain 2_233498790_G->T 2 233498790 233498790 G T snp 644.77 0/1 99 34 11 23 0.68 intronic rs1107504 EFHD1 AU NM_025202 exon1 c.302+74G>T 0.250399 0.2212 Uncertain 2_233502984_A->G 2 233502984 233502984 A G snp 2784.77 1/1 99 95 0 95 1.0 intronic rs13029754 EFHD1 AU NM_025202 exon1 c.302+4268A>G 0.317292 0.4038 Uncertain 2_233536926_T->C 2 233536926 233536926 T C snp 1348.77 1/1 96 47 0 47 1.0 intronic rs11684420 EFHD1 AU NM_025202 exon3 c.38604-92T>C 0.345847 0.4891 Uncertain 2_233537125_A->G 2 233537125 233537125 A G snp 1903.77 1/1 99 67 0 67 1.0 exonic rs11550699 EFHD1 AU nonsynonymous SNV NM_001243252 exon3 c.A269G p.K90R 0.346446 0.4891 0.306243 0.3797 0.4942 0.27 T 0.483 P -0.932 T 0.021 T 0.013 T Pathogenic 2_233599904_A->C 2 233599904 233599904 A C snp 1596.77 0/1 99 145 81 64 0.44 UTR5 rs11555646 GIGYF2 AU 0.359425 0.3532 0.320698 0.3578 0.3188 Uncertain 2_233612557_C->T 2 233612557 233612557 C T snp 56.74 1/1 6 2 0 2 1.0 intronic rs3817311 GIGYF2 AU NM_001103146 exon4 c.12547+103C>T 0.359225 0.3532 Uncertain 2_233633460_G->A 2 233633460 233633460 G A snp 392.77 0/1 99 46 26 20 0.43 exonic rs1801251 KCNJ13 AR,AD nonsynonymous SNV NM_002242 exon3 c.C524T p.T175I 0.360024 0.3532 0.321313 0.3548 0.3175 0.06 T 0.0 P -1.107 T 0.0 T 0.0 T Pathogenic 2_233641083_G->C 2 233641083 233641083 G C snp 1566.77 0/1 99 136 65 71 0.52 intronic rs737027 GIGYF2 AU NM_001103147 exon10 c.41214-38G>C 0.687101 0.6468 0.661978 0.6830 0.6616 Uncertain 2_233659553_C->A 2 233659553 233659553 C A snp 1456.77 0/1 99 117 55 62 0.53 exonic rs2289912 GIGYF2 AU nonsynonymous SNV NM_001103146 exon13 c.C1378A p.P460T 0.0830671 0.2302 0.015608 0.0524 0.2291 0.57 T 0.895 P -1.068 T 0.756 T 0.297 P Pathogenic 2_233671530_A->G 2 233671530 233671530 A G snp 35.77 0/1 64 6 4 2 0.33 intronic rs3816335 GIGYF2 AU NM_001103146 exon15 c.71460+163A>G 0.0826677 0.2312 Uncertain 2_233677041_-->T 2 233677041 233677041 - T indel 97.73 0/1 99 25 16 9 0.36 intronic rs201316461 GIGYF2 AU NM_001103146 exon18 c.77193-59insT Uncertain 2_233708806_A->G 2 233708806 233708806 A G snp 853.77 0/1 99 89 50 39 0.44 exonic rs3816334 GIGYF2 AU synonymous SNV NM_001103146 exon24 c.A2940G p.Q980Q 0.640375 0.6458 0.678099 0.6336 0.6804 0 D 0.001 P -0.966 T 0.0 T 0.0 T Likely benign 2_233710713_G->C 2 233710713 233710713 G C snp 108.77 0/1 99 9 5 4 0.44 intronic rs4973054 GIGYF2 AU NM_001103146 exon26 c.110689+117G>C 0.622404 0.6468 Uncertain 2_233712049_G->A 2 233712049 233712049 G A snp 669.77 0/1 99 50 25 25 0.5 intronic rs2305137 GIGYF2 AU NM_001103146 exon27 c.112150-8G>A 0.605232 0.6458 0.641012 0.6351 0.6831 Uncertain 2_233712226_-->GCA 2 233712226 233712226 - GCA indel 578.73 0/1 99 51 25 26 0.51 exonic GIGYF2 AU nonframeshift insertion NM_001103146 exon27 c.3629_3630insGCA p.P1210delinsPQ Uncertain 2_233712227_A->G 2 233712227 233712227 A G snp 630.77 0/1 99 48 23 25 0.52 exonic rs7563724 GIGYF2 AU synonymous SNV NM_001103146 exon27 c.A3630G p.P1210P 0.0982428 0.2103 0.0341 0.0534 Uncertain 2_233712296_G->A 2 233712296 233712296 G A snp 117.77 0/1 99 7 3 4 0.57 intronic rs6437074 GIGYF2 AU NM_001103146 exon27 c.112374+15G>A 0.639976 0.6458 0.683210 0.6449 0.6832 Uncertain 2_233721455_G->A 2 233721455 233721455 G A snp 1052.77 0/1 99 98 57 41 0.42 intronic rs1947105 GIGYF2 AU NM_001103146 exon29 c.121595-47G>A 0.640176 0.6448 0.679686 0.6460 0.6843 Uncertain 2_233723182_G->A 2 233723182 233723182 G A snp 246.77 0/1 99 44 31 13 0.3 UTR3 rs1284 GIGYF2 AU 0.80651 0.7589 0.7349 0.7626 Uncertain 2_233740227_A->G 2 233740227 233740227 A G snp 1473.77 0/1 99 110 55 55 0.5 intronic rs778338 C2orf82 AU NM_206895 exon2 c.5598-422A>G 0.622804 0.6419 0.5701 0.6411 Uncertain 2_233744131_CCC->- 2 233744131 233744133 CCC - indel 1150.73 ./1 99 38 1 37 0.97 UTR3 rs577957548 NGEF AU Uncertain 2_233744131_C->- 2 233744131 233744131 C - indel 1150.73 ./1 99 38 1 37 0.97 UTR3 NGEF AU Uncertain 2_233744134_C->G 2 233744134 233744134 C G snp 513.77 0/1 99 42 25 17 0.4 UTR3 NGEF AU Uncertain 2_233752639_A->T 2 233752639 233752639 A T snp 171.77 0/1 99 10 4 6 0.6 intronic rs2250665 NGEF AU NM_001114090 exon7 c.8544-103A>T 0.594649 0.6319 Uncertain 2_233757679_G->A 2 233757679 233757679 G A snp 2186.77 0/1 99 192 99 93 0.48 exonic rs748002 NGEF AU synonymous SNV NM_001114090 exon5 c.C795T p.A265A 0.300319 0.3492 0.297017 0.3096 0.3583 0.000 P Uncertain 2_233757697_A->G 2 233757697 233757697 A G snp 5103.77 1/1 99 188 0 188 1.0 exonic rs895432 NGEF AU synonymous SNV NM_001114090 exon5 c.T777C p.I259I 0.941494 0.87 0.967092 0.9495 0.8894 1.0 P -1.012 T Likely benign 2_233759362_G->C 2 233759362 233759362 G C snp 120.77 0/1 66 6 2 4 0.67 intronic rs895431 NGEF AU NM_001114090 exon10 c.15267-103G>C 0.705671 0.75 Uncertain 2_233759695_G->C 2 233759695 233759695 G C snp 1455.77 0/1 99 114 59 55 0.48 intronic rs938569 NGEF AU NM_001114090 exon10 c.15428+69G>C 0.28734 0.3462 Uncertain 2_233785015_G->A 2 233785015 233785015 G A snp 232.77 0/1 99 26 16 10 0.38 exonic rs778354 NGEF AU synonymous SNV NM_001114090 exon3 c.C531T p.P177P 0.717252 0.5625 0.791481 0.7500 0.5708 Uncertain 2_233791608_C->G 2 233791608 233791608 C G snp 1235.77 0/1 99 89 45 44 0.49 intronic rs1878289 NGEF AU NM_001114090 exon12 c.47555-145C>G 0.358626 0.3383 Uncertain 2_233791648_G->T 2 233791648 233791648 G T snp 2011.77 0/1 99 174 85 89 0.51 intronic rs2592127 NGEF AU NM_001114090 exon12 c.47555-105G>T 0.358427 0.3383 Uncertain 2_233834975_A->G 2 233834975 233834975 A G snp 1919.77 1/1 99 68 1 67 0.99 exonic rs4973588 NGEF AU nonsynonymous SNV NM_019850 exon3 c.T332C p.M111T 0.842452 0.8433 0.869599 0.8427 0.8464 0.61 T 0.0 P -1.022 T 0.0 T 0.0 T Pathogenic 2_233835180_C->A 2 233835180 233835180 C A snp 1244.77 0/1 99 105 56 49 0.47 intronic NGEF AU NM_019850 exon13 c.90840+142C>A Uncertain 2_233880271_A->G 2 233880271 233880271 A G snp 2414.77 1/1 99 80 0 80 1.0 intergenic rs60652209 NGEF AU 0.610224 0.378 Uncertain 2_233925491_A->G 2 233925491 233925491 A G snp 345.78 1/1 27 10 0 10 1.0 intronic rs4246649 INPP5D AU NM_005541 exon1 c.134+169A>G 0.909545 0.9891 Uncertain 2_233998646_C->T 2 233998646 233998646 C T snp 1113.77 1/1 81 38 0 38 1.0 intronic rs6738961 INPP5D AU NM_005541 exon5 c.70170+3288C>T 0.479633 0.498 0.5182 0.5 Uncertain 2_234054515_G->A 2 234054515 234054515 G A snp 1452.77 1/1 99 54 0 54 1.0 intronic rs147786898 INPP5D AU NM_005541 exon6 c.129616-289G>A 0.488818 0.619 Uncertain 2_234054989_T->G 2 234054989 234054989 T G snp 5272.77 1/1 99 194 0 194 1.0 intronic rs36180605 INPP5D AU NM_005541 exon7 c.129824-23T>G 0.584065 0.7738 0.498467 0.5376 0.6890 Uncertain 2_234055004_T->C 2 234055004 234055004 T C snp 4732.77 1/1 99 169 0 169 1.0 intronic rs36189208 INPP5D AU NM_005541 exon7 c.129824-8T>C 0.707268 0.9524 0.537451 0.6286 0.8135 Uncertain 2_234066741_A->C 2 234066741 234066741 A C snp 167.9 1/1 15 5 0 5 1.0 intronic rs36142198 INPP5D AU NM_005541 exon9 c.141770-217A>C 0.749002 0.9831 Uncertain 2_234066969_C->G 2 234066969 234066969 C G snp 4014.77 1/1 99 151 0 151 1.0 exonic rs36127492 INPP5D AU unknown 0.748802 0.9831 0.569864 0.6460 0.9822 Uncertain 2_234067089_A->G 2 234067089 234067089 A G snp 2530.77 1/1 99 84 0 84 1.0 intronic rs36165346 INPP5D AU NM_005541 exon9 c.141877+24A>G 0.521166 0.6349 0.412615 0.5489 0.6306 Uncertain 2_234070587_A->T 2 234070587 234070587 A T snp 205.77 0/1 99 11 4 7 0.64 intronic rs28751960 INPP5D AU NM_005541 exon10 c.145284+115A>T 0.384585 0.5605 Uncertain 2_234072626_T->C 2 234072626 234072626 T C snp 428.77 1/1 33 15 0 15 1.0 intronic rs141642539 INPP5D AU NM_005541 exon11 c.147361+77T>C 0.981629 1 Uncertain 2_234073243_C->T 2 234073243 234073243 C T snp 1037.77 0/1 99 69 33 36 0.52 intronic rs6715810 INPP5D AU NM_005541 exon12 c.147882+173C>T 0.232827 0.2579 Uncertain 2_234091158_T->C 2 234091158 234091158 T C snp 3972.77 1/1 99 150 0 150 1.0 intronic rs4571051 INPP5D AU NM_005541 exon18 c.165957+13T>C 0.830272 0.9683 0.714434 0.7051 0.9632 Uncertain 2_234104029_G->A 2 234104029 234104029 G A snp 6550.77 1/1 99 240 0 240 1.0 intronic rs6706611 INPP5D AU NM_005541 exon23 c.178856-15G>A 0.276558 0.3522 0.214484 0.2482 0.3113 Uncertain 2_234107070_G->A 2 234107070 234107070 G A snp 1875.77 1/1 99 67 0 67 1.0 intronic rs7569827 INPP5D AU NM_005541 exon24 c.181834+48G>A 0.770966 0.7976 0.685513 0.6959 0.8039 Uncertain 2_234112649_T->C 2 234112649 234112649 T C snp 1176.77 1/1 87 34 0 34 1.0 intronic rs7609436 INPP5D AU NM_005541 exon25 c.187583-122T>C 0.877596 1 Uncertain 2_234112956_G->A 2 234112956 234112956 G A snp 2269.77 0/1 99 183 85 98 0.54 exonic rs192196528 INPP5D AU unknown 0.00239617 0.0119 0.000248 0.0016 0.0214 0.4 T 1 N 0.172 D 0.997 D 0.742 D ID=COSM1406345;OCCURENCE=1(large_intestine) Uncertain 2_234181556_C->A 2 234181556 234181556 C A snp 2191.77 0/1 99 236 139 97 0.41 intronic rs2289476 ATG16L1 AU NM_001190267 exon7 c.8941-55C>A 0.111621 0.0387 0.090670 Uncertain 2_234181593_G->C 2 234181593 234181593 G C snp 2268.77 0/1 99 219 122 97 0.44 intronic rs2289475 ATG16L1 AU NM_001190267 exon7 c.8941-18G>C 0.635982 0.4504 0.706213 0.6758 0.4585 Uncertain 2_234191530_T->A 2 234191530 234191530 T A snp 1362.77 0/1 99 108 53 55 0.51 intronic rs2278610 ATG16L1 AU NM_001190267 exon12 c.18729+131T>A 0.0878594 0.0595 Uncertain 2_234197717_C->G 2 234197717 234197717 C G snp 232.77 0/1 99 22 14 8 0.36 intronic rs4663136 ATG16L1 AU NM_001190267 exon13 c.25829-782C>G 0.602835 0.4583 Uncertain 2_234198852_T->A 2 234198852 234198852 T A snp 1947.77 0/1 99 206 129 77 0.37 intronic rs55754152 ATG16L1 AU NM_001190267 exon14 c.26223-41T>A 0.0720847 0.0278 0.057127 0.0625 0.0108 Uncertain 2_234200978_A->- 2 234200978 234200978 A - indel 1349.73 0/1 99 78 37 41 0.53 intronic rs60739904 ATG16L1 AU NM_001190267 exon16 c.28362-54delA 0.139976 0.0476 0.135921 Uncertain 2_234200999_T->A 2 234200999 234200999 T A snp 716.77 0/1 99 55 24 31 0.56 intronic rs56242862 ATG16L1 AU NM_001190267 exon16 c.28362-33T>A 0.0720847 0.0278 0.057127 0.0625 0.0109 Uncertain 2_234201657_A->G 2 234201657 234201657 A G snp 52.74 1/1 6 2 0 2 1.0 intronic rs11679064 ATG16L1 AU NM_001190267 exon17 c.29231-244A>G 0.072484 0.0278 Uncertain 2_234202766_G->A 2 234202766 234202766 G A snp 408.77 0/1 99 32 18 14 0.44 intronic rs6748547 ATG16L1 AU NM_001190267 exon18 c.30232-136G>A 0.0700879 0.0268 Uncertain 2_234224681_C->T 2 234224681 234224681 C T snp 997.77 0/1 99 65 30 35 0.54 intronic rs55895356 SAG AR,AU NM_000541 exon3 c.6885-39C>T 0.0443291 0.0268 0.037104 0.0714 0.0241 Uncertain 2_234227523_A->G 2 234227523 234227523 A G snp 2017.77 0/1 99 175 97 78 0.45 intronic rs2304777 SAG AR,AU NM_000541 exon4 c.9606+82A>G 0.705871 0.5169 0.7135 0.5256 0.0 P -1.024 T Uncertain 2_234227699_C->T 2 234227699 234227699 C T snp 518.77 0/1 99 50 30 20 0.4 intronic rs2304775 SAG AR,AU NM_000541 exon4 c.9606+258C>T 0.105631 0.0298 0.0889 0.0262 Uncertain 2_234229320_A->G 2 234229320 234229320 A G snp 3018.77 0/1 99 250 124 126 0.5 exonic rs7565275 SAG AR,AU nonsynonymous SNV NM_000541 exon5 c.A226G p.I76V 0.0744808 0.0298 0.064635 0.0954 0.0233 0.08 T 1.0 P -1.095 T 0.74 T 0.802 P Pathogenic 2_234236951_C->T 2 234236951 234236951 C T snp 98.77 0/1 99 11 7 4 0.36 intronic rs72978313 SAG AR,AU NM_000541 exon8 c.19288-172C>T 0.0778754 0.0298 Uncertain 2_234236955_G->A 2 234236955 234236955 G A snp 134.77 0/1 99 14 9 5 0.36 intronic rs72978315 SAG AR,AU NM_000541 exon8 c.19288-168G>A 0.0778754 0.0298 Uncertain 2_234236986_G->C 2 234236986 234236986 G C snp 228.77 0/1 99 29 21 8 0.28 intronic rs72978317 SAG AR,AU NM_000541 exon8 c.19288-137G>C 0.0778754 0.0298 Uncertain 2_234238254_T->G 2 234238254 234238254 T G snp 867.77 0/1 99 79 42 37 0.47 intronic rs745498 SAG AR,AU NM_000541 exon9 c.20388+31T>G 0.709465 0.5198 0.758035 0.7169 0.5325 Uncertain 2_234247627_T->C 2 234247627 234247627 T C snp 411.77 0/1 99 26 12 14 0.54 intronic rs2241874 SAG AR,AU NM_000541 exon12 c.29564+228T>C 0.644768 0.4454 Uncertain 2_234255507_T->A 2 234255507 234255507 T A snp 1124.77 0/1 99 96 52 44 0.46 exonic rs199798289 SAG AR,AU nonsynonymous SNV NM_000541 exon16 c.T1167A p.D389E 0.00119808 0.005 0.000164 0.0002 0.0020 0.4 T 0.999 D -0.928 T 0.144 T 0.024 T Pathogenic 2_234255548_T->C 2 234255548 234255548 T C snp 1405.77 0/1 99 131 71 60 0.46 exonic rs1046976 SAG AR,AU nonsynonymous SNV NM_000541 exon16 c.T1208C p.V403A 0.140176 0.0466 0.131043 0.1121 0.0300 0.75 T 0.0 P -0.944 T 0.0 T 0.0 T Pathogenic 2_234294561_-->TC 2 234294561 234294561 - TC indel 12561.7 1/1 99 244 0 244 1.0 intronic rs3075537 DGKD AU NM_152879 exon2 c.33738-2341insTC 0.888379 0.9256 0.8520 0.9479 Uncertain 2_234294791_G->C 2 234294791 234294791 G C snp 94.28 1/1 9 3 0 3 1.0 intronic rs838716 DGKD AU NM_152879 exon2 c.33738-2111G>C 0.78155 0.7768 Uncertain 2_234345163_G->A 2 234345163 234345163 G A snp 385.77 0/1 99 20 8 12 0.6 intronic rs117275921 DGKD AU NM_003648 exon6 c.48209+76G>A 0.0255591 0.119 Uncertain 2_234347092_A->- 2 234347092 234347092 A - indel 183.73 0/1 99 27 14 13 0.48 intronic rs3214826 DGKD AU NM_003648 exon8 c.50147+67delA 0.35024 0.2063 Uncertain 2_234354245_G->A 2 234354245 234354245 G A snp 644.77 0/1 99 65 39 26 0.4 intronic rs2305542 DGKD AU NM_003648 exon10 c.57390-23G>A 0.323083 0.1617 0.307473 0.2143 0.1155 Uncertain 2_234367112_G->A 2 234367112 234367112 G A snp 459.77 0/1 99 30 15 15 0.5 intronic rs28588417 DGKD AU NM_003648 exon21 c.70165+69G>A 0.104233 0.1111 Uncertain 2_234368821_T->C 2 234368821 234368821 T C snp 4671.77 1/1 99 172 0 172 1.0 intronic rs2290464 DGKD AU NM_003648 exon23 c.71961-18T>C 0.356829 0.1885 0.333231 0.2324 0.1520 Uncertain 2_234371351_G->A 2 234371351 234371351 G A snp 1235.77 0/1 99 99 46 53 0.54 exonic rs2228939 DGKD AU synonymous SNV NM_152879 exon26 c.G3156A p.T1052T 0.116214 0.0427 0.116485 0.0989 0.0227 Uncertain 2_234372767_T->C 2 234372767 234372767 T C snp 931.77 0/1 99 101 63 38 0.38 intronic rs2924811 DGKD AU NM_003648 exon26 c.75931-42T>C 0.262979 0.1419 0.291429 0.2105 0.1268 Uncertain 2_234372985_A->C 2 234372985 234372985 A C snp 1624.77 1/1 99 56 0 56 1.0 intronic rs2242098 DGKD AU NM_003648 exon26 c.76051+56A>C 0.392971 0.1845 Uncertain 2_234386018_A->G 2 234386018 234386018 A G snp 898.77 0/1 99 90 51 39 0.43 UTR3 rs2971862 USP40 AU 0.25639 0.1438 0.280230 0.2235 0.1395 Uncertain 2_234386134_A->G 2 234386134 234386134 A G snp 1199.77 0/1 99 119 68 51 0.43 exonic rs2971863 USP40 AU synonymous SNV NM_018218 exon31 c.T3648C p.H1216H 0.25619 0.1438 0.278424 0.2149 0.1318 Uncertain 2_234394329_C->A 2 234394329 234394329 C A snp 2819.77 0/1 99 223 100 123 0.55 intronic rs1470864 USP40 AU NM_018218 exon3 c.8235+57C>A 0.241214 0.1458 Uncertain 2_234394487_G->A 2 234394487 234394487 G A snp 6915.77 1/1 99 248 0 248 1.0 exonic rs1048603 USP40 AU nonsynonymous SNV NM_018218 exon28 c.C3367T p.R1123C 0.40016 0.1944 0.421302 0.3540 0.1816 0.12 T 0.0 P -1.021 T 0.0 T 0.001 T Pathogenic 2_234394569_A->G 2 234394569 234394569 A G snp 1719.77 0/1 99 133 60 73 0.55 exonic rs2603547 USP40 AU synonymous SNV NM_018218 exon28 c.T3285C p.Y1095Y 0.256789 0.1458 0.274772 0.2685 0.1804 0.989 P -0.921 T Likely benign 2_234396542_G->A 2 234396542 234396542 G A snp 533.77 0/1 99 43 20 23 0.53 intronic rs2167885 USP40 AU NM_018218 exon5 c.10847-342G>A 0.17492 0.1458 Uncertain 2_234396566_G->C 2 234396566 234396566 G C snp 448.77 0/1 99 42 21 21 0.5 intronic rs10929178 USP40 AU NM_018218 exon5 c.10847-318G>C 0.128794 0.0486 Uncertain 2_234405361_-->AAT 2 234405361 234405361 - AAT indel 475.73 0/1 99 27 17 10 0.37 intronic rs201378346 USP40 AU NM_018218 exon9 c.19366-42insAAT 0.0309505 0.1002 0.010578 0.0103 0.0833 Uncertain 2_234405374_A->C 2 234405374 234405374 A C snp 993.77 1/1 72 35 0 35 1.0 intronic rs2602386 USP40 AU NM_018218 exon9 c.19366-29A>C 0.408746 0.1974 0.428474 0.3277 0.1626 Uncertain 2_234408547_C->T 2 234408547 234408547 C T snp 366.77 0/1 99 47 29 18 0.38 exonic rs78122518 USP40 AU nonsynonymous SNV NM_018218 exon21 c.G2661A p.M887I 0.0305511 0.1002 0.010025 0.0107 0.0842 0.09 T 0.998 D -1.244 T 0.996 D 0.987 D Pathogenic 2_234418873_G->A 2 234418873 234418873 G A snp 80.77 0/1 66 6 3 3 0.5 intronic rs116963421 USP40 AU NM_018218 exon12 c.32744+92G>A 0.0305511 0.1002 Uncertain 2_234420361_C->T 2 234420361 234420361 C T snp 1906.77 0/1 99 175 89 86 0.49 exonic rs72982319 USP40 AU synonymous SNV NM_018218 exon19 c.G2553A p.S851S 0.0313498 0.1002 0.010019 0.0131 0.0934 1 D -1.105 T Likely benign 2_234420998_G->A 2 234420998 234420998 G A snp 31.77 0/1 60 4 2 2 0.5 intronic rs144225407 USP40 AU NM_018218 exon14 c.35177-216G>A 0.0307508 0.1012 Uncertain 2_234432017_A->G 2 234432017 234432017 A G snp 2624.77 0/1 99 201 97 104 0.52 exonic rs838543 USP40 AU nonsynonymous SNV NM_018218 exon15 c.T2033C p.V678A 0.180112 0.1458 0.210811 0.1909 0.1306 0.13 T 0.991 P -1.089 T 0.107 T 0.023 T Pathogenic 2_234433081_G->A 2 234433081 234433081 G A snp 2338.77 0/1 99 186 89 97 0.52 intronic rs6746234 USP40 AU NM_018218 exon18 c.47100-56G>A 0.130391 0.0456 0.126369 Uncertain 2_234433124_G->A 2 234433124 234433124 G A snp 2631.77 0/1 99 244 132 112 0.46 intronic rs838549 USP40 AU NM_018218 exon18 c.47100-13G>A 0.167931 0.1458 0.204011 0.1905 0.1303 Uncertain 2_234438246_-->T 2 234438246 234438246 - T indel 1927.73 0/1 99 136 76 60 0.44 intronic rs397798564 USP40 AU NM_018218 exon21 c.52121+88insT 0.797125 0.8542 Uncertain 2_234438354_C->T 2 234438354 234438354 C T snp 423.77 1/1 33 11 0 11 1.0 intronic rs12692193 USP40 AU NM_018218 exon21 c.52121+196C>T 0.885383 0.9881 Uncertain 2_234442438_AA->- 2 234442438 234442439 AA - indel 173.74 0/1 29 15 4 11 0.73 intronic rs563478237 USP40 AU NM_018218 exon22 c.56388+13_56388+14delAA 0.0255591 0.1002 0.0379 0.1328 Uncertain 2_234449316_G->A 2 234449316 234449316 G A snp 2266.77 0/1 99 195 94 101 0.52 exonic rs2167884 USP40 AU synonymous SNV NM_018218 exon9 c.C1195T p.L399L 0.819888 0.8542 0.786048 0.8091 0.8694 Uncertain 2_234449462_T->C 2 234449462 234449462 T C snp 667.77 0/1 99 41 15 26 0.63 intronic rs1545525 USP40 AU NM_018218 exon23 c.63375+50T>C 0.763379 0.8542 0.739656 0.7949 0.8701 Uncertain 2_234450822_T->C 2 234450822 234450822 T C snp 56.74 1/1 6 2 0 2 1.0 intronic rs1901812 USP40 AU NM_018218 exon24 c.64876-91T>C 0.844449 0.9544 Uncertain 2_234451044_A->T 2 234451044 234451044 A T snp 358.77 0/1 99 43 26 17 0.4 intronic rs78451449 USP40 AU NM_018218 exon24 c.64972+35A>T 0.0251597 0.1002 0.003437 0.0084 0.1044 Uncertain 2_234459960_T->C 2 234459960 234459960 T C snp 77.77 0/1 99 12 8 4 0.33 intronic rs75921413 USP40 AU NM_018218 exon26 c.73984-61T>C 0.0251597 0.1002 Uncertain 2_234460046_A->G 2 234460046 234460046 A G snp 170.77 0/1 99 28 18 10 0.36 exonic rs151152774 USP40 AU synonymous SNV NM_018218 exon6 c.T849C p.I283I 0.0305511 0.1002 0.009951 0.0105 0.0837 Uncertain 2_234465572_A->T 2 234465572 234465572 A T snp 2547.77 0/1 99 216 100 116 0.54 exonic rs79471829 USP40 AU nonsynonymous SNV NM_018218 exon4 c.T511A p.Y171N 0.0303514 0.0992 0.010149 0.0102 0.0821 1 T 1.000 N -0.978 T 0.0 T 0.0 T Pathogenic 2_234465770_T->C 2 234465770 234465770 T C snp 330.77 0/1 99 20 9 11 0.55 intronic rs78075797 USP40 AU NM_018218 exon28 c.79628+105T>C 0.0305511 0.1002 Uncertain 2_234469664_T->C 2 234469664 234469664 T C snp 568.77 0/1 99 47 22 25 0.53 intronic rs6753062 USP40 AU NM_018218 exon29 c.82533+1094T>C 0.764776 0.8542 0.7941 0.8515 0.02 T 0.0 P -1.026 T Uncertain 2_234469725_G->A 2 234469725 234469725 G A snp 736.77 0/1 99 65 34 31 0.48 intronic rs117751285 USP40 AU NM_018218 exon29 c.82533+1155G>A 0.0251597 0.1002 0.0079 0.1069 Uncertain 2_234469751_-->A 2 234469751 234469751 - A indel 610.73 0/1 99 66 35 31 0.47 intronic rs200139615 USP40 AU NM_018218 exon29 c.82533+1181insA 0.0273562 0.1002 Uncertain 2_234526871_C->G 2 234526871 234526871 C G snp 1939.77 0/1 99 129 63 66 0.51 exonic rs1042597 UGT1A8 AU nonsynonymous SNV NM_019076 exon1 c.C518G p.A173G 0.25599 0.506 0.190066 0.2674 0.5161 0.08 T 0.0 P -0.927 T 0.044 T 0.116 T ID=CM0910596;DIS=Reduced activity;TAG=FP;PUB=19318555 FP Pathogenic 2_234580454_T->- 2 234580454 234580454 T - indel 465.73 0/1 99 27 8 19 0.7 intronic rs3832043 UGT1A10 AU NM_019075 exon1 c.855+34431delT 0.552915 0.4315 Uncertain 2_234590527_T->G 2 234590527 234590527 T G snp 519.77 0/1 99 50 26 24 0.48 intronic rs7586110 UGT1A10 AU NM_019075 exon1 c.855+44504T>G 0.297724 0.1964 ID=CR057794;DIS=Reduced promoter activity;TAG=FP;PUB=15716465 FP Uncertain 2_234590616_C->A 2 234590616 234590616 C A snp 442.77 0/1 99 56 33 23 0.41 exonic rs7577677 UGT1A7 AU synonymous SNV NM_019077 exon1 c.C33A p.P11P 0.297324 0.1964 0.348839 0.3511 0.1929 Uncertain 2_234590970_T->G 2 234590970 234590970 T G snp 323.77 0/1 99 36 25 11 0.31 exonic rs17868323 UGT1A7 AU nonsynonymous SNV NM_019077 exon1 c.T387G p.N129K 0.576278 0.4385 0.5880 0.4115 0.31 T 0.0 P -0.944 T 0.0 T 0.001 T ID=CM024576;DIS=Reduced catalytic activity, association with;TAG=DFP;PUB=12172214 DFP Pathogenic 2_234590974_C->A 2 234590974 234590974 C A snp 309.77 0/1 99 32 22 10 0.31 exonic rs17863778 UGT1A7 AU synonymous SNV NM_019077 exon1 c.C391A p.R131R 0.576278 0.4385 0.5873 0.4113 Uncertain 2_234590975_G->A 2 234590975 234590975 G A snp 304.77 0/1 99 32 22 10 0.31 exonic rs17868324 UGT1A7 AU nonsynonymous SNV NM_019077 exon1 c.G392A p.R131Q 0.576278 0.4385 0.5873 0.4117 0.32 T 0.0 P -0.999 T 0.0 T 0.001 T Pathogenic 2_234591205_T->C 2 234591205 234591205 T C snp 3356.77 0/1 99 249 123 126 0.51 exonic rs11692021 UGT1A7 AU nonsynonymous SNV NM_019077 exon1 c.T622C p.W208R 0.297724 0.1964 0.349223 0.3513 0.1933 0.2 T 0.0 P -0.991 T 0.0 T 0.001 T ID=CM004345;DIS=Reduced catalytic activity, association with;TAG=DFP;PUB=11037804 DFP Pathogenic 2_234598991_T->G 2 234598991 234598991 T G snp 1592.77 0/1 99 100 42 58 0.58 intronic rs7563561 UGT1A10 AU NM_019075 exon1 c.855+52968T>G 0.36242 0.2242 Uncertain 2_234599089_C->G 2 234599089 234599089 C G snp 3547.77 0/1 99 249 97 152 0.61 intronic rs7608175 UGT1A10 AU NM_019075 exon1 c.855+53066C>G 0.356829 0.2242 Uncertain 2_234599296_T->C 2 234599296 234599296 T C snp 467.77 0/1 99 44 28 16 0.36 intronic rs45615240 UGT1A10 AU NM_019075 exon1 c.855+53273T>C 0.36222 0.2242 Uncertain 2_234601669_T->G 2 234601669 234601669 T G snp 984.77 0/1 99 84 43 41 0.49 exonic rs6759892 UGT1A6 AU nonsynonymous SNV NM_001072 exon1 c.T19G p.S7A 0.36222 0.2242 0.404198 0.3901 0.2236 1 T 0.0 P -0.989 T 0.0 T 0.0 T ID=CM057769;DIS=Altered enzyme activity;TAG=DFP;PUB=15761113 DFP Pathogenic 2_234601965_A->G 2 234601965 234601965 A G snp 2658.77 0/1 99 213 101 112 0.53 exonic rs1105880 UGT1A6 AU synonymous SNV NM_001072 exon1 c.A315G p.L105L 0.342652 0.2242 0.360526 0.3519 0.2232 Uncertain 2_234602191_A->G 2 234602191 234602191 A G snp 2299.77 0/1 99 202 106 96 0.48 exonic rs2070959 UGT1A6 AU nonsynonymous SNV NM_001072 exon1 c.A541G p.T181A 0.277556 0.1964 0.304629 0.3133 0.1927 0.61 T 0.0 P -1.021 T 0.0 T 0.001 T ID=CM057770;DIS=Altered enzyme activity;TAG=DFP;PUB=15761113 DFP Pathogenic 2_234602202_A->C 2 234602202 234602202 A C snp 2370.77 0/1 99 206 107 99 0.48 exonic rs1105879 UGT1A6 AU nonsynonymous SNV NM_001072 exon1 c.A552C p.R184S 0.324681 0.2242 0.339920 0.3457 0.2231 0.11 T 0.001 P -0.956 T 0.038 T 0.103 T ID=CM057768;DIS=Altered enzyme activity;TAG=DFP;PUB=15761113 DFP Pathogenic 2_234602641_G->T 2 234602641 234602641 G T snp 41.74 1/1 6 2 0 2 1.0 intronic rs7592281 UGT1A10 AU NM_019075 exon1 c.855+56618G>T 0.0936502 0.1687 Uncertain 2_234627937_T->C 2 234627937 234627937 T C snp 7034.77 1/1 99 247 0 247 1.0 exonic rs2011404 UGT1A4 AU synonymous SNV NM_007120 exon1 c.T471C p.C157C 0.907947 0.9742 0.872905 0.8664 0.9880 Uncertain 2_234637905_C->T 2 234637905 234637905 C T snp 1210.77 0/1 99 106 56 50 0.47 exonic rs45625338 UGT1A3 AU nonsynonymous SNV NM_019093 exon1 c.C133T p.R45W 0.0091853 0.0446 0.000231 0.0043 0.0401 0 D 0.985 N -0.818 T 0.998 D 0.946 D ID=CM042129;DIS=Altered enzyme activity;TAG=FP;PUB=14986168 FP Pathogenic 2_234652193_C->G 2 234652193 234652193 C G snp 1944.77 0/1 99 242 150 92 0.38 exonic rs201114978 DNAJB3 AU nonsynonymous SNV NM_001001394 exon1 c.G370C p.G124R 0.000399361 0.002 0.0004 0.0033 Pathogenic 2_234669144_G->A 2 234669144 234669144 G A snp 3668.77 0/1 99 250 120 130 0.52 exonic rs4148323 UGT1A1 AR,AU nonsynonymous SNV NM_000463 exon1 c.G211A p.G71R 0.034345 0.1379 0.001307 0.0207 0.1524 0.07 T 0.0 P -1.081 T 0.982 D 0.625 D CLINSIG=pathogenic|pathogenic|other;CLNDBN=Gilbert's_syndrome|Hyperbilirubinemia_transient_familial_neonatal|Bilirubin\x2c_serum_level_of\x2c_quantitative_trait_locus_1;CLNREVSTAT=no_assertion_criteria_provided|no_assertion_criteria_provided|no_assertion_criteria_provided;CLNACC=RCV000013071.23|RCV000022810.23|RCV000022811.1;CLNDSDB=MedGen:OMIM:SNOMED_CT|.|MedGen:OMIM;CLNDSDBID=C0017551:143500:27503000|.|C1866173:601816 ID=CM930722;DIS=Hyperbilirubinaemia, association with;TAG=DFP;PUB=17850628 DFP Pathogenic 2_234669529_C->G 2 234669529 234669529 C G snp 2688.77 0/1 99 200 99 101 0.51 exonic UGT1A1 AR,AU nonsynonymous SNV NM_000463 exon1 c.C596G p.S199C 0.03 T 1 N -0.708 T 0.643 T 0.578 P ID=CM1410192;DIS=Hyperbilirubinaemia, adult;TAG=DM?;PUB=25200497 DM? Pathogenic 2_234688036_C->A 2 234688036 234688036 C A snp 1441.77 1/1 99 52 0 52 1.0 exonic rs6431631 MROH2A AU nonsynonymous SNV NM_001287395 exon2 c.C32A p.A11D 0.829273 0.869 0.8073 0.8354 1 T 0.0 P -1.002 T Pathogenic 2_234698097_T->C 2 234698097 234698097 T C snp 780.77 0/1 99 62 28 34 0.55 intronic rs12468017 MROH2A AU NM_001287395 exon4 c.10138-45T>C 0.214457 0.2351 0.1833 0.2225 Uncertain 2_234702212_G->C 2 234702212 234702212 G C snp 1008.77 0/1 99 67 34 33 0.49 intronic rs6738710 MROH2A AU NM_001287395 exon7 c.14314-106G>C 0.263978 0.3115 Uncertain 2_234702459_T->C 2 234702459 234702459 T C snp 4285.77 1/1 99 143 0 143 1.0 exonic rs1500481 MROH2A AU nonsynonymous SNV NM_001287395 exon7 c.T811C p.Y271H 0.626997 0.6855 0.6077 0.6290 0.25 T 0.0 P -1.005 T Pathogenic 2_234702905_C->T 2 234702905 234702905 C T snp 222.77 0/1 99 30 20 10 0.33 intronic rs10169532 MROH2A AU NM_001287395 exon8 c.15004-103C>T 0.357029 0.3948 Uncertain 2_234703136_T->C 2 234703136 234703136 T C snp 2033.77 1/1 99 71 0 71 1.0 intronic rs6431634 MROH2A AU NM_001287395 exon8 c.15122+10T>C 0.640375 0.6925 0.5471 0.6286 0.87 T 0.000 P -1.138 T Uncertain 2_234704150_T->C 2 234704150 234704150 T C snp 2173.77 1/1 99 63 0 63 1.0 intronic rs2885297 MROH2A AU NM_001287395 exon9 c.16259-113T>C 0.901158 0.9901 Uncertain 2_234704318_A->G 2 234704318 234704318 A G snp 7982.77 1/1 99 250 1 249 1.0 exonic rs2361503 MROH2A AU nonsynonymous SNV NM_001287395 exon9 c.A995G p.E332G 0.652756 0.6796 0.5673 0.622 0.09 T 0.698 P -1.126 T Pathogenic 2_234704495_T->G 2 234704495 234704495 T G snp 5392.77 1/1 99 161 0 161 1.0 intronic rs11563248 MROH2A AU NM_001287395 exon9 c.16387+104T>G 0.617013 0.6915 Uncertain 2_234704690_T->C 2 234704690 234704690 T C snp 4687.77 1/1 99 149 0 149 1.0 exonic rs759173 MROH2A AU synonymous SNV NM_001287395 exon10 c.T1146C p.L382L 0.889377 0.9851 0.8667 0.9918 Uncertain 2_234704746_G->C 2 234704746 234704746 G C snp 5385.77 1/1 99 171 0 171 1.0 intronic rs759172 MROH2A AU NM_001287395 exon10 c.16687+55G>C 0.962859 1 Uncertain 2_234707341_T->C 2 234707341 234707341 T C snp 1073.77 1/1 78 36 0 36 1.0 intronic rs1500479 MROH2A AU NM_001287395 exon12 c.19415-78T>C 0.829273 0.7619 Uncertain 2_234708570_G->A 2 234708570 234708570 G A snp 944.77 0/1 99 66 24 42 0.64 intronic rs11563069 MROH2A AU NM_001287395 exon13 c.20541+25G>A 0.732029 0.5526 0.7616 0.5391 Uncertain 2_234708629_G->A 2 234708629 234708629 G A snp 668.77 0/1 99 43 12 31 0.72 intronic rs13018934 MROH2A AU NM_001287395 exon13 c.20541+84G>A 0.641174 0.5327 Uncertain 2_234708720_T->G 2 234708720 234708720 T G snp 818.77 1/1 60 26 0 26 1.0 intronic rs2041652 MROH2A AU NM_001287395 exon14 c.20846-130T>G 0.834465 0.9306 Uncertain 2_234708868_G->C 2 234708868 234708868 G C snp 704.77 0/1 99 73 38 35 0.48 exonic rs11563246 MROH2A AU nonsynonymous SNV NM_001287395 exon14 c.G1476C p.K492N 0.25 0.2579 0.1013 0.2137 0.48 T 0.0 P -0.897 T Pathogenic 2_234710666_G->A 2 234710666 234710666 G A snp 69.77 0/1 98 8 5 3 0.38 intronic rs10929305 MROH2A AU NM_001287395 exon15 c.22809-147G>A 0.334864 0.3601 Uncertain 2_234710831_G->C 2 234710831 234710831 G C snp 856.77 0/1 99 81 42 39 0.48 exonic rs10929306 MROH2A AU synonymous SNV NM_001287395 exon15 c.G1587C p.L529L 0.335064 0.3601 0.2149 0.3320 Uncertain 2_234711008_G->T 2 234711008 234711008 G T snp 104.77 0/1 99 13 9 4 0.31 intronic rs741158 MROH2A AU NM_001287395 exon15 c.22957+47G>T 0.214856 0.2708 0.1885 0.2447 Uncertain 2_234712652_C->A 2 234712652 234712652 C A snp 871.77 0/1 99 76 39 37 0.49 intronic rs11562982 MROH2A AU NM_001287395 exon17 c.24692-44C>A 0.330471 0.3433 0.2060 0.3195 Uncertain 2_234712921_G->A 2 234712921 234712921 G A snp 458.77 1/1 36 15 0 15 1.0 intronic rs10175949 MROH2A AU NM_001287395 exon17 c.24834+83G>A 0.890575 0.9008 Uncertain 2_234713571_C->A 2 234713571 234713571 C A snp 49.77 0/1 33 4 1 3 0.75 intronic rs11563242 MROH2A AU NM_001287395 exon19 c.25645-78C>A 0.335064 0.3482 Uncertain 2_234713706_T->C 2 234713706 234713706 T C snp 733.77 0/1 99 55 26 29 0.53 exonic rs4430949 MROH2A AU synonymous SNV NM_001287395 exon19 c.T2010C p.S670S 0.335264 0.3472 0.2128 0.3202 Uncertain 2_234713812_G->T 2 234713812 234713812 G T snp 621.77 0/1 99 47 20 27 0.57 intronic rs2041651 MROH2A AU NM_001287395 exon19 c.25753+55G>T 0.811502 0.7004 Uncertain 2_234716309_G->A 2 234716309 234716309 G A snp 433.77 0/1 99 22 9 13 0.59 intronic rs6716876 MROH2A AU NM_001287395 exon21 c.28374-69G>A 0.324681 0.3611 Uncertain 2_234716426_G->A 2 234716426 234716426 G A snp 1218.77 0/1 99 97 49 48 0.49 exonic rs11563241 MROH2A AU synonymous SNV NM_001287395 exon21 c.G2229A p.T743T 0.32528 0.3611 0.2120 0.3299 Uncertain 2_234717669_A->G 2 234717669 234717669 A G snp 865.77 0/1 99 44 18 26 0.59 intronic rs10803663 MROH2A AU NM_001287395 exon22 c.29767-102A>G 0.698482 0.6925 Uncertain 2_234720734_A->C 2 234720734 234720734 A C snp 1039.77 1/1 78 35 0 35 1.0 intronic rs988344 MROH2A AU NM_001287395 exon24 c.32601+129A>C 0.874601 0.8938 Uncertain 2_234722468_G->A 2 234722468 234722468 G A snp 368.77 0/1 99 30 14 16 0.53 intronic rs77711235 MROH2A AU NM_001287395 exon25 c.34420+44G>A 0.0545128 0.2133 0.0165 0.2406 Uncertain 2_234722564_T->C 2 234722564 234722564 T C snp 43.77 0/1 72 5 3 2 0.4 intronic rs11562981 MROH2A AU NM_001287395 exon25 c.34420+140T>C 0.0553115 0.2173 Uncertain 2_234723098_G->T 2 234723098 234723098 G T snp 1176.77 0/1 99 72 29 43 0.6 intronic rs11563239 MROH2A AU NM_001287395 exon26 c.35223-129G>T 0.0553115 0.2173 Uncertain 2_234723126_G->A 2 234723126 234723126 G A snp 1798.77 0/1 99 128 57 71 0.55 intronic rs11563238 MROH2A AU NM_001287395 exon26 c.35223-101G>A 0.0557109 0.2183 Uncertain 2_234723143_C->G 2 234723143 234723143 C G snp 2069.77 0/1 99 172 81 91 0.53 intronic rs74934066 MROH2A AU NM_001287395 exon26 c.35223-84C>G 0.0553115 0.2173 Uncertain 2_234723151_G->T 2 234723151 234723151 G T snp 2232.77 0/1 99 185 88 97 0.52 intronic rs79604842 MROH2A AU NM_001287395 exon26 c.35223-76G>T 0.0553115 0.2173 Uncertain 2_234725502_T->C 2 234725502 234725502 T C snp 1349.77 1/1 96 51 0 51 1.0 exonic rs726016 MROH2A AU nonsynonymous SNV NM_001287395 exon27 c.T2941C p.W981R 0.828874 0.8929 0.8513 0.9098 0.98 T 0.0 P -0.956 T Pathogenic 2_234726616_A->T 2 234726616 234726616 A T snp 1101.77 0/1 99 94 52 42 0.45 intronic rs6756004 MROH2A AU NM_001287395 exon28 c.38643-31A>T 0.15615 0.2639 0.0824 0.2316 Uncertain 2_234727333_C->G 2 234727333 234727333 C G snp 1174.77 0/1 99 103 52 51 0.5 exonic rs719418 MROH2A AU nonsynonymous SNV NM_001287395 exon29 c.C3130G p.Q1044E 0.285942 0.5089 0.0898 0.5041 1 T 0.0 P -0.949 T Pathogenic 2_234728078_T->C 2 234728078 234728078 T C snp 3444.77 1/1 99 119 0 119 1.0 exonic rs1500480 MROH2A AU nonsynonymous SNV NM_001287395 exon30 c.T3329C p.F1110S 0.825879 0.8929 0.8424 0.9098 0.42 T 0.000 P -1.077 T Pathogenic 2_234730807_G->A 2 234730807 234730807 G A snp 1975.77 0/1 99 196 110 86 0.44 exonic rs6734083 MROH2A AU nonsynonymous SNV NM_001287395 exon32 c.G3559A p.V1187M 0.0846645 0.0913 0.0553 0.0938 0.1 T 0.0 P -1.024 T Pathogenic 2_234731210_C->T 2 234731210 234731210 C T snp 1427.77 0/1 99 114 54 60 0.53 exonic rs75177406 MROH2A AU stopgain NM_001287395 exon33 c.C3883T p.R1295X 0.0459265 0.2183 0.0149 0.2422 Pathogenic 2_234732317_A->G 2 234732317 234732317 A G snp 2450.77 1/1 99 89 0 89 1.0 exonic rs11676792 MROH2A AU nonsynonymous SNV NM_001287395 exon35 c.A4144G p.M1382V 0.592053 0.5456 0.4791 0.5581 1.000 P Pathogenic 2_234737275_G->C 2 234737275 234737275 G C snp 913.77 0/1 99 76 36 40 0.53 splicing rs52820200 MROH2A AU NM_001287395 exon36 c.49271G>C 0.0477236 0.2083 0.0141 0.2399 1.0 P Pathogenic 2_234737372_C->A 2 234737372 234737372 C A snp 2849.77 1/1 99 102 0 102 1.0 exonic rs7564261 MROH2A AU synonymous SNV NM_001287395 exon36 c.C4252A p.R1418R 0.264377 0.3472 0.1869 0.3709 Uncertain 2_234738175_A->G 2 234738175 234738175 A G snp 713.77 1/1 54 19 0 19 1.0 intronic rs502059 MROH2A AU NM_001287395 exon38 c.50261-90A>G 0.656949 0.5188 Uncertain 2_234738472_G->A 2 234738472 234738472 G A snp 2283.77 1/1 99 72 0 72 1.0 intronic rs582432 MROH2A AU NM_001287395 exon38 c.50417+51G>A 0.633786 0.5079 Uncertain 2_234740136_G->A 2 234740136 234740136 G A snp 3195.8 0/1 99 250 126 124 0.5 exonic rs879665 MROH2A AU nonsynonymous SNV NM_001287395 exon39 c.G4726A p.A1576T 0.192891 0.2778 0.1509 0.2984 0.58 T 0.0 P -1.092 T Pathogenic 2_234740758_A->G 2 234740758 234740758 A G snp 808.77 0/1 99 85 50 35 0.41 intronic rs213547 MROH2A AU NM_001287395 exon40 c.52818-64A>G 0.553315 0.5099 Uncertain 2_234740797_-->AAAA 2 234740797 234740797 - AAAA indel 3060.73 0/1 99 124 74 50 0.4 intronic rs76276350 MROH2A AU NM_001287395 exon40 c.52818-25insAAAA 0.552716 0.5089 0.5489 0.5062 Uncertain 2_234740798_T->A 2 234740798 234740798 T A snp 1132.77 0/1 99 124 77 47 0.38 intronic rs3064782 MROH2A AU NM_001287395 exon40 c.52818-24T>A 0.552915 0.5089 0.5492 0.5126 Uncertain 2_234740987_C->G 2 234740987 234740987 C G snp 1477.77 0/1 99 110 52 58 0.53 intronic rs658482 MROH2A AU NM_001287395 exon40 c.52921+62C>G 0.555711 0.5109 Uncertain 2_234740991_C->T 2 234740991 234740991 C T snp 1197.77 0/1 99 108 58 50 0.46 intronic rs574369304 MROH2A AU NM_001287395 exon40 c.52921+66C>T 0.000199681 Uncertain 2_234741022_T->C 2 234741022 234741022 T C snp 983.77 0/1 99 65 31 34 0.52 intronic rs122856 MROH2A AU NM_001287395 exon40 c.52921+97T>C 0.617013 0.5099 Uncertain 2_234741028_-->G 2 234741028 234741028 - G indel 1056.73 0/1 99 62 31 31 0.5 intronic rs5839496 MROH2A AU NM_001287395 exon40 c.52921+103insG 0.554912 0.5099 Uncertain 2_234741808_C->T 2 234741808 234741808 C T snp 1128.77 0/1 99 88 42 46 0.52 exonic rs2270856 MROH2A AU nonsynonymous SNV NM_001287395 exon42 c.C4970T p.P1657L 0.0990415 0.1905 0.0953 0.2293 0 D 0.000 P -1.038 T Pathogenic 2_234746105_TAT->- 2 234746105 234746107 TAT - indel 773.73 0/1 99 33 18 15 0.45 UTR3 rs66812989 HJURP AU 0.0964457 0.1905 Uncertain 2_234749151_C->T 2 234749151 234749151 C T snp 2151.77 1/1 99 63 0 63 1.0 intronic rs213555 HJURP AU NM_001282963 exon2 c.3032-103C>T 0.688698 0.7093 Uncertain 2_234749258_T->C 2 234749258 234749258 T C snp 2961.77 0/1 99 250 132 118 0.47 exonic rs10511 HJURP AU nonsynonymous SNV NM_001282963 exon5 c.A1913G p.E638G 0.158946 0.2837 0.117177 0.1196 0.3039 0.11 T 0.0 P -0.898 T 0.998 D 0.966 D Pathogenic 2_234749269_G->A 2 234749269 234749269 G A snp 2969.77 0/1 99 250 131 119 0.48 exonic rs3771334 HJURP AU synonymous SNV NM_001282963 exon5 c.C1902T p.P634P 0.0672923 0.1964 0.012071 0.0278 0.2170 Uncertain 2_234749354_G->A 2 234749354 234749354 G A snp 2909.77 0/1 99 248 132 116 0.47 exonic rs12582 HJURP AU nonsynonymous SNV NM_001282963 exon5 c.C1817T p.S606F 0.158347 0.2837 0.116792 0.1149 0.3030 0.7 T 0.0 P -0.914 T 0.319 T 0.037 T Pathogenic 2_234749780_G->C 2 234749780 234749780 G C snp 2279.77 0/1 99 193 101 92 0.48 exonic rs3821238 HJURP AU nonsynonymous SNV NM_001282963 exon5 c.C1391G p.S464C 0.166134 0.2827 0.129863 0.1177 0.2926 0.12 T 0.0 P -0.992 T 0.997 D 0.821 D Pathogenic 2_234750831_T->C 2 234750831 234750831 T C snp 1795.77 1/1 99 59 0 59 1.0 exonic rs3806589 HJURP AU nonsynonymous SNV NM_001282963 exon5 c.A340G p.R114G 0.711661 0.7579 0.666846 0.6395 0.7487 1 T 0.0 P -0.964 T 0.0 T 0.0 T Pathogenic 2_234750889_C->T 2 234750889 234750889 C T snp 501.77 0/1 99 28 10 18 0.64 intronic rs3806588 HJURP AU NM_001282963 exon2 c.4629+38C>T 0.0491214 0.1944 0.000846 0.0220 0.2071 Uncertain 2_234752638_C->T 2 234752638 234752638 C T snp 514.77 1/1 39 15 0 15 1.0 intronic rs7583713 HJURP AU NM_001282963 exon3 c.6628-212C>T 0.744409 0.872 Uncertain 2_234753008_G->A 2 234753008 234753008 G A snp 541.77 0/1 99 46 25 21 0.46 intronic rs169925 HJURP AU NM_001282963 exon3 c.6707+79G>A 0.682308 0.7163 Uncertain 2_234761355_G->A 2 234761355 234761355 G A snp 2150.77 0/1 99 165 76 89 0.54 intronic rs554699 HJURP AU NM_001282963 exon4 c.15044+89G>A 0.559305 0.7173 Uncertain 2_234763226_C->T 2 234763226 234763226 C T snp 1185.77 0/1 99 109 60 49 0.45 upstream rs503913 HJURP AU 0.598642 0.7262 Uncertain 2_234775847_T->- 2 234775847 234775847 T - indel 2977.73 0/1 99 189 82 107 0.57 ncRNA_exonic rs137902542 MSL3P1 AU 0.0579073 0.1835 0.012704 0.0269 0.2095 Uncertain 2_234775941_A->G 2 234775941 234775941 A G snp 269.77 0/1 99 16 7 9 0.56 ncRNA_exonic rs213545 MSL3P1 AU 0.556709 0.7232 Uncertain 2_234835102_G->A 2 234835102 234835102 G A snp 705.77 0/1 99 60 29 31 0.52 intronic rs28901608 TRPM8 AU 0.058107 0.126 Uncertain 2_234835170_C->T 2 234835170 234835170 C T snp 1428.77 0/1 99 127 64 63 0.5 intronic rs11563220 TRPM8 AU 0.154752 0.2351 0.067584 0.0564 0.2269 Uncertain 2_234835440_T->C 2 234835440 234835440 T C snp 448.77 0/1 99 26 10 16 0.62 intronic rs11563219 TRPM8 AU NM_024080 exon2 c.117+141T>C 0.190296 0.3512 Uncertain 2_234846198_G->A 2 234846198 234846198 G A snp 654.77 1/1 48 19 0 19 1.0 intronic rs1019103 TRPM8 AU NM_024080 exon4 c.10971+45G>A 1 1 0.9999 1 Uncertain 2_234847506_C->A 2 234847506 234847506 C A snp 405.77 0/1 99 23 8 15 0.65 intronic rs10432393 TRPM8 AU NM_024080 exon5 c.12459-135C>A 0.0966454 0.2202 Uncertain 2_234847573_A->G 2 234847573 234847573 A G snp 1722.77 0/1 99 129 64 65 0.5 intronic rs9646720 TRPM8 AU NM_024080 exon5 c.12459-68A>G 0.332468 0.4177 Uncertain 2_234847823_A->C 2 234847823 234847823 A C snp 1272.77 0/1 99 105 58 47 0.45 splicing rs2302153 TRPM8 AU NM_024080 exon5 c.12637+4A>C 0.351038 0.4187 0.284561 0.2718 0.4485 Pathogenic 2_234851094_A->G 2 234851094 234851094 A G snp 43.77 0/1 72 4 2 2 0.5 intronic rs28901629 TRPM8 AU NM_024080 exon6 c.16037-125A>G 0.0545128 0.1329 Uncertain 2_234854547_A->T 2 234854547 234854547 A T snp 1174.77 0/1 99 126 70 56 0.44 exonic rs28901637 TRPM8 AU synonymous SNV NM_024080 exon7 c.A747T p.P249P 0.0507188 0.1319 0.011456 0.0233 0.1557 ID=COSM149103;OCCURENCE=1(stomach) Uncertain 2_234856212_C->T 2 234856212 234856212 C T snp 2187.77 0/1 99 239 150 89 0.37 intronic rs28901644 TRPM8 AU NM_024080 exon8 c.20617+413C>T 0.0852636 0.2202 0.0856 0.2522 Uncertain 2_234858801_G->A 2 234858801 234858801 G A snp 40.77 0/1 69 5 3 2 0.4 intronic rs11563217 TRPM8 AU NM_024080 exon9 c.23608+11G>A 0.0896565 0.2202 0.010380 0.0466 0.2443 Uncertain 2_234863788_G->A 2 234863788 234863788 G A snp 3859.77 1/1 99 145 0 145 1.0 exonic rs7593557 TRPM8 AU nonsynonymous SNV NM_024080 exon11 c.G1256A p.S419N 0.344449 0.4444 0.217976 0.1547 0.4599 0.76 T 0.000 P -0.968 T 0.0 T 0.0 T Pathogenic 2_234873436_G->T 2 234873436 234873436 G T snp 1593.77 0/1 99 120 52 68 0.57 intronic rs28902176 TRPM8 AU NM_024080 exon14 c.38219+35G>T 0.120807 0.2242 0.043057 0.0473 0.2276 Uncertain 2_234878261_G->A 2 234878261 234878261 G A snp 435.77 1/1 36 14 0 14 1.0 intronic rs6760498 TRPM8 AU NM_024080 exon16 c.43156-77G>A 0.407947 0.6002 Uncertain 2_234878774_T->C 2 234878774 234878774 T C snp 1519.77 1/1 99 41 0 41 1.0 intronic rs1548690 TRPM8 AU NM_024080 exon17 c.43671-79T>C 0.199081 0.38 Uncertain 2_234916831_A->G 2 234916831 234916831 A G snp 549.77 1/1 42 21 0 21 1.0 intronic rs6734618 TRPM8 AU NM_024080 exon24 c.81565+84A>G 0.754992 0.8075 0.724463 Uncertain 2_234967539_T->A 2 234967539 234967539 T A snp 1110.77 0/1 99 129 78 51 0.4 exonic rs593668 SPP2 AU synonymous SNV NM_006944 exon3 c.T270A p.T90T 0.690495 0.629 0.686145 0.7153 0.6132 Uncertain 2_235949877_T->C 2 235949877 235949877 T C snp 2206.77 0/1 99 186 101 85 0.46 exonic rs3731644 SH3BP4 AU nonsynonymous SNV NM_014521 exon4 c.T464C p.M155T 0.341653 0.4117 0.197755 0.2199 0.4174 0.63 T 0.0 P -0.920 T 0.0 T 0.0 T Pathogenic 2_235949920_A->G 2 235949920 235949920 A G snp 2197.77 0/1 99 208 119 89 0.43 exonic rs3731645 SH3BP4 AU synonymous SNV NM_014521 exon4 c.A507G p.P169P 0.330871 0.4127 0.192988 0.2030 0.4178 Uncertain 2_235950002_G->A 2 235950002 235950002 G A snp 2589.77 0/1 99 245 141 104 0.42 exonic rs3731646 SH3BP4 AU nonsynonymous SNV NM_014521 exon4 c.G589A p.A197T 0.298522 0.4097 0.156620 0.1930 0.4181 0.62 T 0.0 P -0.957 T 0.0 T 0.0 T Pathogenic 2_235950167_G->A 2 235950167 235950167 G A snp 3319.77 0/1 99 249 118 131 0.53 exonic rs200759779 SH3BP4 AU nonsynonymous SNV NM_014521 exon4 c.G754A p.V252I 0.0005 0.0006 0.55 T 0.958 D -0.967 T 0.082 T 0.024 T Pathogenic 2_235950187_T->C 2 235950187 235950187 T C snp 3031.77 0/1 99 249 128 121 0.49 exonic rs1469375 SH3BP4 AU synonymous SNV NM_014521 exon4 c.T774C p.D258D 0.721845 0.9147 0.567584 0.5622 0.9226 Uncertain 2_235950284_A->C 2 235950284 235950284 A C snp 3195.8 0/1 99 250 121 129 0.52 exonic rs3731648 SH3BP4 AU synonymous SNV NM_014521 exon4 c.A871C p.R291R 0.298323 0.4077 0.154053 0.1938 0.4167 Uncertain 2_235951819_A->G 2 235951819 235951819 A G snp 1316.77 0/1 99 93 45 48 0.52 exonic rs3795962 SH3BP4 AU synonymous SNV NM_014521 exon4 c.A2406G p.L802L 0.752196 0.9157 0.605490 0.5864 0.9272 Uncertain 2_235951983_C->T 2 235951983 235951983 C T snp 198.77 0/1 99 11 4 7 0.64 intronic rs78367788 SH3BP4 AU NM_014521 exon4 c.8245+92C>T 0.172324 0.3026 Uncertain 2_235952019_C->T 2 235952019 235952019 C T snp 81.77 0/1 30 4 1 3 0.75 intronic rs375142083 SH3BP4 AU NM_014521 exon4 c.8245+128C>T 0.166933 0.2788 Uncertain 2_235961111_A->G 2 235961111 235961111 A G snp 102.77 0/1 99 7 3 4 0.57 intronic rs6754815 SH3BP4 AU NM_014521 exon5 c.17559-94A>G 0.274361 0.5238 Uncertain 2_235962014_C->T 2 235962014 235962014 C T snp 1975.77 0/1 99 191 108 83 0.43 intronic rs28403581 SH3BP4 AU NM_014521 exon6 c.18589-221C>T 0.207668 0.372 Uncertain 2_235962513_C->T 2 235962513 235962513 C T snp 313.77 0/1 87 13 4 9 0.69 UTR3 rs10929083 SH3BP4 AU 0.247005 0.373 Uncertain 2_236403607_C->A 2 236403607 236403607 C A snp 547.77 0/1 99 38 19 19 0.5 intronic rs3738998 AGAP1 AU NM_014914 exon1 c.163+114C>A 0.545527 0.6925 Uncertain 2_236433161_G->A 2 236433161 236433161 G A snp 2031.77 0/1 99 178 90 88 0.49 intronic rs62191529 AGAP1 AU NM_014914 exon1 c.163+29668G>A 0.426318 0.4216 0.4592 0.3992 Uncertain 2_236433331_T->C 2 236433331 236433331 T C snp 662.77 1/1 51 18 0 18 1.0 intronic rs11689907 AGAP1 AU NM_014914 exon1 c.163+29838T>C 0.777356 0.9067 Uncertain 2_236433390_G->A 2 236433390 236433390 G A snp 174.9 1/1 15 5 0 5 1.0 intronic rs10207027 AGAP1 AU NM_014914 exon1 c.163+29897G>A 0.942292 0.9891 Uncertain 2_236579317_G->A 2 236579317 236579317 G A snp 1412.77 0/1 99 113 53 60 0.53 intronic rs13014733 AGAP1 AU NM_014914 exon2 c.214492-38505G>A 0.191294 0.3343 0.1394 0.2692 0.82 T 0.155 P -1.055 T Uncertain 2_236617582_T->C 2 236617582 236617582 T C snp 76.77 0/1 99 7 3 4 0.57 intronic rs3754671 AGAP1 AU NM_014914 exon2 c.214492-240T>C 0.33726 0.4246 Uncertain 2_236617595_T->C 2 236617595 236617595 T C snp 222.77 0/1 99 13 5 8 0.62 intronic rs3754670 AGAP1 AU NM_014914 exon2 c.214492-227T>C 0.337859 0.4246 Uncertain 2_236617736_C->T 2 236617736 236617736 C T snp 1496.77 0/1 99 117 55 62 0.53 intronic rs3754669 AGAP1 AU NM_014914 exon2 c.214492-86C>T 0.14996 0.2768 Uncertain 2_236618069_T->C 2 236618069 236618069 T C snp 125.78 0/1 27 5 1 4 0.8 intronic rs13022599 AGAP1 AU NM_014914 exon2 c.214551+188T>C 0.180711 0.3145 Uncertain 2_236682914_T->C 2 236682914 236682914 T C snp 77.77 0/1 99 7 4 3 0.43 intronic rs2696411 AGAP1 AU NM_014914 exon7 c.303072-23488T>C 0.23722 0.3204 0.2124 0.3523 Uncertain 2_236685532_G->A 2 236685532 236685532 G A snp 155.77 0/1 99 14 7 7 0.5 intronic rs72981176 AGAP1 AU NM_014914 exon7 c.303072-20870G>A 0.21865 0.3065 Uncertain 2_236685731_G->C 2 236685731 236685731 G C snp 561.77 0/1 99 57 34 23 0.4 intronic rs113739109 AGAP1 AU NM_014914 exon7 c.303072-20671G>C 0.222644 0.3214 0.1977 0.3492 Uncertain 2_236685762_A->G 2 236685762 236685762 A G snp 401.77 0/1 99 40 23 17 0.42 intronic rs138493201 AGAP1 AU NM_014914 exon7 c.303072-20640A>G 0.29992 0.3214 Uncertain 2_236685829_T->C 2 236685829 236685829 T C snp 104.77 0/1 99 9 5 4 0.44 intronic rs12151454 AGAP1 AU NM_014914 exon7 c.303072-20573T>C 0.222843 0.3214 Uncertain 2_236691982_A->G 2 236691982 236691982 A G snp 646.77 0/1 99 65 38 27 0.42 intronic rs1878154 AGAP1 AU NM_014914 exon7 c.303072-14420A>G 0.222244 0.3204 0.2068 0.3510 0 D 0.0 P -0.977 T Uncertain 2_236692238_A->G 2 236692238 236692238 A G snp 156.77 0/1 99 8 3 5 0.63 intronic rs12466588 AGAP1 AU NM_014914 exon7 c.303072-14164A>G 0.242013 0.3204 Uncertain 2_236706612_-->T 2 236706612 236706612 - T indel 934.73 0/1 99 104 38 66 0.63 intronic rs140030205 AGAP1 AU NM_014914 exon7 c.303200+82insT 0.189497 0.2609 Uncertain 2_236708166_C->T 2 236708166 236708166 C T snp 3017.77 0/1 99 249 123 126 0.51 exonic rs2292708 AGAP1 AU synonymous SNV NM_014914 exon8 c.C957T p.T319T 0.191693 0.2708 0.215055 0.2723 0.2807 Uncertain 2_236761396_C->T 2 236761396 236761396 C T snp 2060.77 1/1 99 80 0 80 1.0 intronic rs13006916 AGAP1 AU NM_001244888 exon10 c.357999+67C>T 0.479633 0.7688 0.5368 0.8004 0 D 1.000 P -0.921 T Uncertain 2_236817337_T->- 2 236817337 236817337 T - indel 829.73 0/1 99 93 39 54 0.58 intronic rs397843744 AGAP1 AU NM_014914 exon11 c.414051-44delT 0.4742 0.4995 Uncertain 2_236923361_-->T 2 236923361 236923361 - T indel 299.73 0/1 99 22 7 15 0.68 intronic rs35361765 AGAP1 AU NM_014914 exon13 c.541874-21843insT 0.447284 0.3343 Uncertain 2_236954470_G->A 2 236954470 236954470 G A snp 2538.77 0/1 99 169 67 102 0.6 intronic rs3768951 AGAP1 AU NM_014914 exon15 c.554372-3232G>A 0.128395 0.1855 Uncertain 2_236954534_A->T 2 236954534 236954534 A T snp 3876.77 0/1 99 250 98 152 0.61 intronic rs3768950 AGAP1 AU NM_014914 exon15 c.554372-3168A>T 0.128794 0.1855 0.1082 0.1792 Uncertain 2_236954560_G->A 2 236954560 236954560 G A snp 3796.77 0/1 99 249 98 151 0.61 intronic rs3768949 AGAP1 AU NM_014914 exon15 c.554372-3142G>A 0.126797 0.1855 0.1110 0.1844 Uncertain 2_236957822_G->A 2 236957822 236957822 G A snp 6934.77 1/1 99 247 0 247 1.0 exonic rs2034648 AGAP1 AU nonsynonymous SNV NM_014914 exon15 c.G1852A p.V618I 0.690495 0.7282 0.633784 0.6020 0.7586 0.51 T 0.0 P -1.004 T 0.0 T 0.003 T Pathogenic 2_237029104_C->T 2 237029104 237029104 C T snp 241.77 0/1 99 17 6 11 0.65 intronic rs2278884 AGAP1 AU NM_014914 exon16 c.625761+13C>T 0.26877 0.3194 0.251064 0.3145 0.3172 Uncertain 2_237032607_T->G 2 237032607 237032607 T G snp 1422.77 0/1 99 100 50 50 0.5 exonic rs11895915 AGAP1 AU synonymous SNV NM_014914 exon17 c.T2256G p.A752A 0.376997 0.2778 0.380055 0.2924 0.2440 1.000 P -0.946 T Likely benign 2_237032703_T->C 2 237032703 237032703 T C snp 3322.77 0/1 99 250 116 134 0.54 exonic rs8178994 AGAP1 AU synonymous SNV NM_014914 exon17 c.T2352C p.P784P 0.396765 0.2778 0.403583 0.2988 0.2440 1.0 P Uncertain 2_237032837_G->A 2 237032837 237032837 G A snp 1155.77 0/1 99 78 33 45 0.58 UTR3 rs11899677 AGAP1 AU 0.375399 0.2758 Uncertain 2_237105050_C->T 2 237105050 237105050 C T snp 71.77 0/1 99 10 7 3 0.3 intronic rs55818776 ASB18 AU NM_212556 exon2 c.1514+22C>T 0.340256 0.2163 0.314949 0.2859 0.2652 Uncertain 2_237146644_GTG->- 2 237146644 237146646 GTG - indel 1025.73 0/1 99 54 27 27 0.5 intronic rs199742897 ASB18 AU NM_212556 exon4 c.43085+45_43085+47delGTG 0.376398 0.5645 0.347816 0.4323 0.5043 Uncertain 2_237149941_C->T 2 237149941 237149941 C T snp 1594.77 1/1 99 55 0 55 1.0 exonic rs6756597 ASB18 AU nonsynonymous SNV NM_212556 exon2 c.G310A p.A104T 0.442492 0.5655 0.422113 0.4793 0.5641 0.47 T 0.313 P -0.951 T 0.76 T 0.357 P Pathogenic 2_237150166_A->C 2 237150166 237150166 A C snp 3276.77 1/1 99 113 0 113 1.0 intronic rs2015983 ASB18 AU NM_212556 exon5 c.46531+121A>C 0.757987 0.7946 0.8095 0.8144 Uncertain 2_237247036_-->A 2 237247036 237247036 - A indel 1375.73 0/1 99 145 77 68 0.47 intronic rs111440161 IQCA1 AU NM_024726 exon3 c.13695+11insA 0.323882 0.1587 0.408154 0.3375 0.1729 Uncertain 2_237255303_A->G 2 237255303 237255303 A G snp 257.77 0/1 99 30 18 12 0.4 intronic rs62192371 IQCA1 AU NM_024726 exon4 c.19956+2017A>G 0.273163 0.1597 Uncertain 2_237255484_G->A 2 237255484 237255484 G A snp 76.77 0/1 69 5 2 3 0.6 intronic rs73132718 IQCA1 AU NM_024726 exon4 c.19956+2198G>A 0.111422 0.0556 Uncertain 2_237285889_G->A 2 237285889 237285889 G A snp 1154.77 0/1 99 100 52 48 0.48 intronic rs6431458 IQCA1 AU NM_024726 exon7 c.52498+61G>A 0.115615 0.0575 0.150241 Uncertain 2_237307924_C->T 2 237307924 237307924 C T snp 370.77 0/1 99 23 11 12 0.52 intronic rs3738987 IQCA1 AU NM_024726 exon11 c.74725-131C>T 0.0802716 0.1766 Uncertain 2_237395699_T->C 2 237395699 237395699 T C snp 109.77 0/1 99 12 7 5 0.42 intronic rs3814370 IQCA1 AU NM_024726 exon15 c.162213+156T>C 0.0810703 0.1756 Uncertain 2_237396935_G->A 2 237396935 237396935 G A snp 523.77 0/1 99 48 30 18 0.38 intronic rs6751722 IQCA1 AU NM_024726 exon16 c.163504+101G>A 0.353634 0.1796 Uncertain 2_237415993_G->A 2 237415993 237415993 G A snp 899.77 0/1 99 67 30 37 0.55 UTR5 rs143621206 IQCA1 AU 0.00998403 0.0308 0.000657 Uncertain 2_238271787_C->- 2 238271787 238271787 C - indel 342.73 1/1 36 12 0 12 1.0 intronic rs11287247 COL6A3 AR,AD NM_004369 exon31 c.38479-108delC 0.654553 0.4831 Uncertain 2_238271789_C->A 2 238271789 238271789 C A snp 206.77 0/1 99 14 7 7 0.5 intronic COL6A3 AR,AD NM_004369 exon31 c.38479-106C>A Uncertain 2_238283448_G->A 2 238283448 238283448 G A snp 3083.77 0/1 99 237 114 123 0.52 exonic rs114852262 COL6A3 AR,AD nonsynonymous SNV NM_004369 exon8 c.C3286T p.R1096C 0.000798722 0.004 0.0002 0.0019 0.01 T 1.000 D -0.302 T 1.0 D 0.997 D ID=COSM304306,COSM1406592;OCCURENCE=2(large_intestine) Pathogenic 2_238289977_A->G 2 238289977 238289977 A G snp 1609.77 0/1 99 164 93 71 0.43 exonic rs116794756 COL6A3 AR,AD nonsynonymous SNV NM_004369 exon5 c.T1478C p.V493A 0.00199681 0.0089 0.000077 0.0013 0.0152 0.77 T 0.998 N -0.235 T 1.0 D 0.998 D Pathogenic 2_238419544_GT->- 2 238419544 238419545 GT - indel 1294.73 0/1 99 87 43 44 0.51 intronic rs71887544 MLPH AR NM_001281473 exon4 c.17562-87_17562-86delGT 0.3122 0.2443 Uncertain 2_238419611_A->G 2 238419611 238419611 A G snp 1108.77 0/1 99 142 84 58 0.41 ncRNA_exonic rs2292879 MIR6811 AU 0.375399 0.3085 0.344533 0.2780 0.3002 Uncertain 2_238427142_T->C 2 238427142 238427142 T C snp 728.77 0/1 99 65 30 35 0.54 intronic rs3751110 MLPH AR NM_001281473 exon5 c.25112-39T>C 0.178514 0.0843 0.225697 0.2396 0.1308 Uncertain 2_238427194_T->C 2 238427194 238427194 T C snp 741.77 0/1 99 61 27 34 0.56 exonic rs3751109 MLPH AR nonsynonymous SNV NM_024101 exon5 c.T458C p.L153P 0.178714 0.0843 0.229083 0.1664 0.0743 0.28 T 0.000 P -0.975 T 0.0 T 0.001 T Pathogenic 2_238427251_G->A 2 238427251 238427251 G A snp 564.77 0/1 99 45 20 25 0.56 exonic rs3751107 MLPH AR nonsynonymous SNV NM_024101 exon5 c.G515A p.G172D 0.178714 0.0843 0.229509 0.1566 0.0693 0.65 T 0.0 P -0.957 T 0.001 T 0.002 T Pathogenic 2_238428418_G->A 2 238428418 238428418 G A snp 725.77 0/1 99 87 57 30 0.34 intronic rs3751106 MLPH AR NM_001281474 exon7 c.26483-134G>A 0.259984 0.1329 Uncertain 2_238428454_T->C 2 238428454 238428454 T C snp 1734.77 0/1 99 169 94 75 0.44 intronic rs75559690 MLPH AR NM_001281474 exon7 c.26483-98T>C 0.142372 0.0665 Uncertain 2_238428459_G->A 2 238428459 238428459 G A snp 1653.77 0/1 99 181 105 76 0.42 intronic rs3751105 MLPH AR NM_001281474 exon7 c.26483-93G>A 0.167133 0.0843 Uncertain 2_238434434_C->T 2 238434434 238434434 C T snp 394.77 0/1 99 35 17 18 0.51 exonic rs11883500 MLPH AR nonsynonymous SNV NM_024101 exon7 c.C866T p.T289I 0.13119 0.0675 0.190557 0.1382 0.0530 0.36 T 0.0 P -1.006 T 0.014 T 0.025 T Pathogenic 2_238443226_A->G 2 238443226 238443226 A G snp 424.77 0/1 99 68 47 21 0.31 exonic rs2292884 MLPH AR nonsynonymous SNV NM_024101 exon9 c.A1040G p.H347R 0.371406 0.2748 0.360757 0.2890 0.2727 1 T 0.0 P -0.942 T 0.0 T 0.0 T ID=CM1111818;DIS=Prostate cancer, association with;TAG=DP;PUB=21743057 DP Pathogenic 2_238443407_G->C 2 238443407 238443407 G C snp 430.77 0/1 99 34 16 18 0.53 intronic rs2292885 MLPH AR NM_024101 exon9 c.41221+117G>C 0.469848 0.4077 Uncertain 2_238449107_A->G 2 238449107 238449107 A G snp 360.77 0/1 99 38 21 17 0.45 exonic rs2271809 MLPH AR synonymous SNV NM_024101 exon10 c.A1221G p.E407E 0.505591 0.4226 0.435712 0.3571 0.4207 0.000 P -1.045 T Likely benign 2_238454153_CC->- 2 238454153 238454154 CC - indel 1060.73 0/1 99 55 25 30 0.55 intronic rs139727526 MLPH AR NM_001281473 exon10 c.53179-1095_53179-1094delCC 0.0591054 0.0437 0.0858 0.02 Uncertain 2_238457684_A->G 2 238457684 238457684 A G snp 468.77 0/1 99 35 18 17 0.49 intronic rs10173589 MLPH AR NM_001281473 exon11 c.55794-179A>G 0.191893 0.128 Uncertain 2_238484161_AG->- 2 238484161 238484162 AG - indel 950.73 0/1 99 44 19 25 0.57 intronic rs551966752 RAB17 AU NM_022449 exon2 c.462+38_462+39delAG 0.000798722 0.004 0.0002 0.0028 Uncertain 2_238499863_-->AATTCTTCAGGAGACTCT 2 238499863 238499863 - AATTCTTCAGGAGACTCT indel 1773.73 0/1 99 17 8 9 0.53 upstream rs146534321 RAB17 AU 0.516374 0.4177 0.3476 0.3835 Uncertain 2_238499866_C->T 2 238499866 238499866 C T snp 199.77 0/1 99 16 8 8 0.5 upstream rs114742872 RAB17 AU 0.3683 0.3906 1.000 N -1.020 T Uncertain 2_238500487_-->A 2 238500487 238500487 - A indel 1410.73 0/1 99 84 43 41 0.49 upstream rs139154033 RAB17 AU 0.0926518 0.1151 0.1173 0.1255 Uncertain 2_238536246_C->T 2 238536246 238536246 C T snp 317.77 0/1 99 38 22 16 0.42 intergenic rs28364855 RAB17 AU 0.0489217 0.1806 0.0857 0.26 Uncertain 2_238641117_C->T 2 238641117 238641117 C T snp 1891.77 0/1 99 161 83 78 0.48 intronic rs56182016 LRRFIP1 AU NM_001137550 exon9 c.106129-1299C>T 0.155351 0.2431 Uncertain 2_238643907_G->A 2 238643907 238643907 G A snp 1630.77 0/1 99 166 91 75 0.45 intronic rs3769078 LRRFIP1 AU NM_001137550 exon10 c.107623-3G>A 0.153954 0.244 0.114175 0.1551 0.2534 Uncertain 2_238648144_C->G 2 238648144 238648144 C G snp 262.77 0/1 99 12 4 8 0.67 intronic rs3769072 LRRFIP1 AU NM_001137550 exon11 c.111665+192C>G 0.388578 0.4683 Uncertain 2_238656936_A->G 2 238656936 238656936 A G snp 856.77 0/1 99 83 44 39 0.47 intronic rs2304431 LRRFIP1 AU NM_001137553 exon3 c.55908-70A>G 0.391374 0.502 0.294569 Uncertain 2_238659708_C->T 2 238659708 238659708 C T snp 354.77 0/1 99 36 21 15 0.42 intronic rs3769062 LRRFIP1 AU NM_001137552 exon7 c.58744-134C>T 0.391773 0.501 Uncertain 2_238661832_T->C 2 238661832 238661832 T C snp 148.77 0/1 99 13 6 7 0.54 intronic rs733579 LRRFIP1 AU NM_001137553 exon5 c.60853-119T>C 0.336262 0.502 Uncertain 2_238661871_T->- 2 238661871 238661871 T - indel 279.73 0/1 99 23 11 12 0.52 intronic rs3832061 LRRFIP1 AU NM_001137553 exon5 c.60853-80delT 0.33726 0.502 Uncertain 2_238662154_A->G 2 238662154 238662154 A G snp 580.77 0/1 99 47 25 22 0.47 intronic rs3769061 LRRFIP1 AU NM_001137553 exon5 c.61024+32A>G 0.257788 0.4395 0.169691 0.2358 0.4598 Uncertain 2_238665976_G->C 2 238665976 238665976 G C snp 219.77 0/1 99 13 6 7 0.54 intronic rs142691595 LRRFIP1 AU NM_001137550 exon17 c.129811-122G>C 0.00678914 0.0238 Uncertain 2_238667501_-->A 2 238667501 238667501 - A indel 267.73 0/1 99 29 10 19 0.66 intronic rs3215064 LRRFIP1 AU NM_001137550 exon18 c.131177+37insA 0.407149 0.4464 0.358238 0.3881 0.4627 Uncertain 2_238668802_A->G 2 238668802 238668802 A G snp 2334.77 0/1 99 189 91 98 0.52 exonic rs3213868 LRRFIP1 AU synonymous SNV NM_004735 exon9 c.A771G p.T257T 0.362021 0.505 0.273797 0.2944 0.5234 Uncertain 2_238671117_A->G 2 238671117 238671117 A G snp 909.77 0/1 99 76 35 41 0.54 intronic rs734388 LRRFIP1 AU NM_001137553 exon8 c.70147-128A>G 0.362819 0.505 Uncertain 2_238671328_A->G 2 238671328 238671328 A G snp 1135.77 0/1 99 102 59 43 0.42 exonic rs868119 LRRFIP1 AU synonymous SNV NM_004735 exon10 c.A900G p.E300E 0.328874 0.4444 0.245502 0.2569 0.4613 Uncertain 2_238672703_C->G 2 238672703 238672703 C G snp 1191.77 0/1 99 109 59 50 0.46 exonic rs3739038 LRRFIP1 AU nonsynonymous SNV NM_004735 exon10 c.C2275G p.H759D 0.360024 0.505 0.279794 0.2942 0.5223 1 T 0.0 P -0.925 T 0.0 T 0.0 T Pathogenic 2_238678875_A->G 2 238678875 238678875 A G snp 141.77 0/1 99 13 8 5 0.38 intergenic rs6719679 LRRFIP1 AU 0.388179 0.5089 Uncertain 2_238683166_G->A 2 238683166 238683166 G A snp 797.77 0/1 99 110 73 37 0.34 intergenic rs2279644 LRRFIP1 AU 0.338658 0.5079 Uncertain 2_238687893_G->A 2 238687893 238687893 G A snp 208.77 0/1 99 18 10 8 0.44 intergenic rs60023357 LRRFIP1 AU 0.261382 0.3839 Uncertain 2_238688244_A->G 2 238688244 238688244 A G snp 604.77 1/1 45 18 0 18 1.0 intergenic rs1151798 LRRFIP1 AU 0.997204 1 Uncertain 2_238688275_C->T 2 238688275 238688275 C T snp 65.77 0/1 94 10 7 3 0.3 intergenic rs2117363 LRRFIP1 AU 0.271366 0.3879 Uncertain 2_238730317_A->G 2 238730317 238730317 A G snp 154.77 0/1 99 14 7 7 0.5 intronic rs62196084 RBM44 AU NM_001080504 exon8 c.8136-68A>G 0.1875 0.3889 Uncertain 2_238730635_G->A 2 238730635 238730635 G A snp 151.77 0/1 99 18 10 8 0.44 intronic rs56387887 RBM44 AU NM_001080504 exon8 c.8221+165G>A 0.186102 0.3859 Uncertain 2_238731931_C->T 2 238731931 238731931 C T snp 215.77 0/1 99 20 10 10 0.5 intronic rs4663794 RBM44 AU NM_001080504 exon9 c.9833-151C>T 0.294529 0.4375 Uncertain 2_238733016_G->A 2 238733016 238733016 G A snp 946.77 0/1 99 145 98 47 0.32 exonic rs4663795 RBM44 AU synonymous SNV NM_001080504 exon10 c.G2406A p.Q802Q 0.263379 0.3859 0.190996 0.1926 0.4060 Uncertain 2_238742837_T->C 2 238742837 238742837 T C snp 665.77 0/1 99 63 37 26 0.41 intronic rs55675197 RBM44 AU NM_001080504 exon14 c.20536+52T>C 0.186901 0.3869 0.118840 Uncertain 2_238786132_G->T 2 238786132 238786132 G T snp 117.77 0/1 99 7 3 4 0.57 intronic rs1210881 RAMP1 AU NM_005855 exon2 c.17686+128G>T 0.371006 0.4504 Uncertain 2_238896494_-->AT 2 238896494 238896494 - AT indel 333.74 1/1 30 10 0 10 1.0 ncRNA_intronic rs59213280 UBE2F-SCLY AU Uncertain 2_238898809_G->A 2 238898809 238898809 G A snp 86.28 1/1 9 3 0 3 1.0 ncRNA_intronic rs4663276 UBE2F-SCLY AU 0.848243 0.9702 Uncertain 2_238903310_C->T 2 238903310 238903310 C T snp 1590.77 1/1 99 55 0 55 1.0 ncRNA_intronic rs10203101 UBE2F-SCLY AU 0.848243 0.9702 Uncertain 2_238912120_A->C 2 238912120 238912120 A C snp 1781.77 0/1 99 155 77 78 0.5 ncRNA_intronic rs10929262 UBE2F-SCLY AU 0.235623 0.2331 Uncertain 2_238925473_G->A 2 238925473 238925473 G A snp 50.74 1/1 6 2 0 2 1.0 ncRNA_intronic rs2875817 UBE2F-SCLY AU 0.848043 0.9702 Uncertain 2_238939370_C->T 2 238939370 238939370 C T snp 632.77 0/1 99 45 21 24 0.53 ncRNA_intronic rs11679080 UBE2F-SCLY AU 0.247804 0.2302 Uncertain 2_238949743_G->A 2 238949743 238949743 G A snp 198.77 0/1 58 8 2 6 0.75 ncRNA_intronic rs708078 UBE2F-SCLY AU 0.350439 0.496 Uncertain 2_238969964_T->C 2 238969964 238969964 T C snp 2714.77 0/1 99 229 117 112 0.49 ncRNA_intronic rs2250185 UBE2F-SCLY AU 0.452875 0.6964 0.4489 0.7387 Uncertain 2_238972827_T->C 2 238972827 238972827 T C snp 789.78 1/1 24 24 1 23 0.96 ncRNA_intronic rs821480 UBE2F-SCLY AU 0.850639 0.9712 Uncertain 2_238990135_G->C 2 238990135 238990135 G C snp 222.84 1/1 18 6 0 6 1.0 ncRNA_intronic rs2249173 UBE2F-SCLY AU 0.853834 0.9712 Uncertain 2_238990388_G->A 2 238990388 238990388 G A snp 3164.77 0/1 99 250 116 134 0.54 exonic rs3210400 SCLY AU nonsynonymous SNV NM_016510 exon5 c.G547A p.A183T 0.253994 0.2321 0.311933 0.3571 0.2117 0 D 0.996 P -0.877 T 0.775 T 0.593 P Pathogenic 2_238991733_C->A 2 238991733 238991733 C A snp 1509.77 0/1 99 135 64 71 0.53 ncRNA_intronic rs2243417 UBE2F-SCLY AU 0.307708 0.4851 0.4027 0.5943 0.000 P Uncertain 2_238991796_C->T 2 238991796 238991796 C T snp 2343.77 0/1 99 221 118 103 0.47 ncRNA_intronic rs2278742 UBE2F-SCLY AU 0.503195 0.4861 0.5489 0.4978 Uncertain 2_239002481_TTG->- 2 239002481 239002483 TTG - indel 2792.73 0/1 99 127 67 60 0.47 ncRNA_intronic rs60210173 UBE2F-SCLY AU 0.252396 0.2321 0.313519 0.3899 0.2507 Uncertain 2_239006650_T->C 2 239006650 239006650 T C snp 138.77 0/1 99 13 7 6 0.46 ncRNA_intronic rs11682046 UBE2F-SCLY AU 0.376398 0.2758 Uncertain 2_239007756_ATT->- 2 239007756 239007758 ATT - indel 1337.73 0/1 99 50 23 27 0.54 ncRNA_exonic rs3841572 UBE2F-SCLY AU 0.53095 0.2907 Uncertain 2_239007806_A->G 2 239007806 239007806 A G snp 1310.77 0/1 99 98 44 54 0.55 ncRNA_exonic rs1054640 UBE2F-SCLY AU 0.661741 0.5248 Uncertain 2_239007850_T->A 2 239007850 239007850 T A snp 1486.77 0/1 99 122 55 67 0.55 ncRNA_exonic rs1054641 UBE2F-SCLY AU 0.357428 0.1637 0.4804 0.1341 Uncertain 2_239007991_T->A 2 239007991 239007991 T A snp 773.77 0/1 99 74 42 32 0.43 ncRNA_exonic rs15787 UBE2F-SCLY AU 0.375998 0.1627 0.4845 0.1311 0.0 P -0.945 T Uncertain 2_239008936_A->G 2 239008936 239008936 A G snp 164.79 0/1 22 7 1 6 0.86 upstream;downstream rs6431579 ESPNL;SCLY UN 0.395168 0.5556 Uncertain 2_239009082_G->A 2 239009082 239009082 G A snp 1228.77 0/1 99 108 51 57 0.53 exonic rs199778762 ESPNL AU nonsynonymous SNV NM_194312 exon1 c.G22A p.V8M 0.00159744 0.0079 0.000154 0.0012 0.0084 0.13 T 1 N -0.889 T 0.95 T 0.537 D Pathogenic 2_239009336_G->A 2 239009336 239009336 G A snp 145.77 0/1 99 12 7 5 0.42 exonic rs61744770 ESPNL AU synonymous SNV NM_194312 exon1 c.G276A p.E92E 0.214856 0.1359 0.254930 0.5260 0.2607 Uncertain 2_239009384_C->T 2 239009384 239009384 C T snp 46.77 0/1 33 3 1 2 0.67 intronic rs62196013 ESPNL AU NM_194312 exon1 c.294+30C>T 0.214657 0.1359 0.263405 0.5173 0.2356 Uncertain 2_239010577_G->C 2 239010577 239010577 G C snp 793.77 0/1 99 62 25 37 0.6 splicing rs1562333 ESPNL AU NM_194312 exon2 c.1521-4G>C 0.215056 0.1349 0.310796 0.3941 0.1530 Pathogenic 2_239010719_T->C 2 239010719 239010719 T C snp 1106.77 1/1 45 44 2 42 0.95 exonic rs36066915 ESPNL AU synonymous SNV NM_194312 exon2 c.T432C p.A144A 0.609225 0.5903 0.641328 0.6649 0.6194 Uncertain 2_239010796_G->C 2 239010796 239010796 G C snp 250.77 0/1 99 18 7 11 0.61 intronic rs10186290 ESPNL AU NM_194312 exon2 c.1712+24G>C 0.276558 0.4256 0.144162 0.2142 0.4583 Uncertain 2_239016539_C->G 2 239016539 239016539 C G snp 6748.77 1/1 99 246 0 246 1.0 exonic rs935415 ESPNL AU synonymous SNV NM_194312 exon4 c.C780G p.L260L 0.746805 0.7143 0.733190 0.7099 0.7095 Uncertain 2_239025523_T->C 2 239025523 239025523 T C snp 2673.77 1/1 99 102 0 102 1.0 intronic rs11903074 ESPNL AU NM_194312 exon5 c.16483-20T>C 0.842851 0.8234 0.851746 0.8368 0.8470 Uncertain 2_239033901_T->C 2 239033901 239033901 T C snp 787.77 0/1 99 69 33 36 0.52 intronic rs10172440 ESPNL AU NM_194312 exon6 c.24850-9T>C 0.562101 0.5704 0.472803 0.5157 0.6422 Uncertain 2_239034043_A->C 2 239034043 239034043 A C snp 322.77 0/1 99 39 24 15 0.38 intronic rs10170048 ESPNL AU NM_194312 exon6 c.24965+18A>C 0.638179 0.6855 0.554443 0.5545 0.6926 Uncertain 2_239036416_T->C 2 239036416 239036416 T C snp 2570.77 1/1 99 93 0 93 1.0 intronic rs12692214 ESPNL AU NM_194312 exon7 c.27315+41T>C 0.845248 0.8244 0.860186 0.8395 0.8516 Uncertain 2_239036423_C->A 2 239036423 239036423 C A snp 960.77 0/1 99 88 46 42 0.48 intronic rs62197371 ESPNL AU NM_194312 exon7 c.27315+48C>A 0.20607 0.13 0.288387 0.3255 0.1357 Uncertain 2_239039183_G->A 2 239039183 239039183 G A snp 1204.77 0/1 99 90 43 47 0.52 exonic rs73102303 ESPNL AU nonsynonymous SNV NM_194312 exon9 c.G1828A p.V610M 0.13139 0.0526 0.138677 0.1771 0.0813 0.46 T 0.0 P -1.032 T 0.414 T 0.029 T Pathogenic 2_239039637_T->C 2 239039637 239039637 T C snp 738.77 0/1 99 47 14 33 0.7 exonic rs4663845 ESPNL AU nonsynonymous SNV NM_194312 exon9 c.T2282C p.V761A 0.863618 0.9315 0.853919 0.8137 0.9141 1 T 0.0 P -0.964 T 0.0 T 0.0 T Pathogenic 2_239039779_G->A 2 239039779 239039779 G A snp 1038.77 0/1 99 89 46 43 0.48 exonic rs73102306 ESPNL AU synonymous SNV NM_194312 exon9 c.G2424A p.L808L 0.086861 0.0536 0.072489 0.1410 0.0896 Uncertain 2_239039896_G->C 2 239039896 239039896 G C snp 2247.77 0/1 99 184 94 90 0.49 exonic rs10182906 ESPNL AU synonymous SNV NM_194312 exon9 c.G2541C p.P847P 0.862819 0.9276 0.817977 0.8143 0.9233 Uncertain 2_239040187_T->C 2 239040187 239040187 T C snp 1286.77 0/1 99 123 64 59 0.48 exonic rs12692215 ESPNL AU synonymous SNV NM_194312 exon9 c.T2832C p.G944G 0.865016 0.9286 0.816338 0.7989 0.9268 Uncertain 2_239040218_G->A 2 239040218 239040218 G A snp 1265.77 0/1 99 119 63 56 0.47 exonic rs73102309 ESPNL AU nonsynonymous SNV NM_194312 exon9 c.G2863A p.A955T 0.133786 0.0546 0.148799 0.1210 0.0520 0.54 T 0.0 P -1.043 T 0.001 T 0.002 T Pathogenic 2_239040343_G->A 2 239040343 239040343 G A snp 1281.77 0/1 99 141 80 61 0.43 exonic rs73102311 ESPNL AU synonymous SNV NM_194312 exon9 c.G2988A p.K996K 0.0856629 0.0546 0.087819 0.0853 0.0506 Uncertain 2_239050142_G->A 2 239050142 239050142 G A snp 651.77 0/1 99 51 25 26 0.51 exonic rs73102336 KLHL30 AU synonymous SNV NM_198582 exon2 c.G747A p.R249R 0.077476 0.0546 0.061642 0.2419 0.1333 Uncertain 2_239051550_T->C 2 239051550 239051550 T C snp 275.77 0/1 77 14 3 11 0.79 exonic rs935411 KLHL30 AU synonymous SNV NM_198582 exon3 c.T885C p.F295F 0.933706 0.9335 0.916814 0.9087 0.9397 Uncertain 2_239051575_G->A 2 239051575 239051575 G A snp 68.77 0/1 97 15 11 4 0.27 splicing rs76664545 KLHL30 AU NM_198582 exon3 c.2177+3G>A 0.112819 0.0873 0.097612 0.0808 0.0986 Pathogenic 2_239053685_A->C 2 239053685 239053685 A C snp 1619.77 0/1 99 139 69 70 0.5 intronic rs13013945 KLHL30 AU NM_198582 exon4 c.4234+56A>C 0.472644 0.4464 0.498905 Uncertain 2_239054504_G->T 2 239054504 239054504 G T snp 1547.77 0/1 99 136 72 64 0.47 intronic rs11674140 KLHL30 AU NM_198582 exon5 c.5078+31G>T 0.73722 0.7956 0.732114 0.7467 0.7831 Uncertain 2_239059484_T->C 2 239059484 239059484 T C snp 818.77 0/1 99 95 59 36 0.38 exonic rs7605194 KLHL30 AU synonymous SNV NM_198582 exon8 c.T1515C p.N505N 0.858427 0.9256 0.800404 0.8035 0.9128 Uncertain 2_239071623_A->G 2 239071623 239071623 A G snp 54.74 1/1 6 2 0 2 1.0 intronic rs7564476 FAM132B AU NM_001291832 exon3 c.3831+144A>G 0.751597 0.7956 Uncertain 2_239075935_A->G 2 239075935 239075935 A G snp 2670.77 0/1 99 196 90 106 0.54 UTR3 rs3820817 FAM132B AU 0.626797 0.6746 0.6443 0.7157 Uncertain 2_239079542_A->G 2 239079542 239079542 A G snp 809.77 0/1 99 63 27 36 0.57 intronic rs2278737 ILKAP AU NM_030768 exon2 c.407-41A>G 0.109425 0.1032 0.140551 0.1443 0.1062 Uncertain 2_239082040_T->C 2 239082040 239082040 T C snp 180.9 1/1 15 5 0 5 1.0 intronic rs7585597 ILKAP AU NM_030768 exon3 c.2998-134T>C 0.770367 0.7946 Uncertain 2_239082166_-->C 2 239082166 239082166 - C indel 4355.73 1/1 99 109 0 109 1.0 intronic rs11411952 ILKAP AU NM_030768 exon3 c.2998-8insC 0.871406 0.9851 0.816802 0.8349 0.9813 Uncertain 2_239090645_C->A 2 239090645 239090645 C A snp 170.77 0/1 99 18 12 6 0.33 intronic ILKAP AU NM_030768 exon4 c.11529-60C>A Uncertain 2_239090830_G->A 2 239090830 239090830 G A snp 2049.77 0/1 99 177 87 90 0.51 splicing ILKAP AU NM_030768 exon4 c.11651+3G>A Pathogenic 2_239092474_C->T 2 239092474 239092474 C T snp 404.77 0/1 99 32 17 15 0.47 intronic rs2305173 ILKAP AU NM_030768 exon5 c.13205+93C>T 0.336861 0.3165 Uncertain 2_239092544_G->A 2 239092544 239092544 G A snp 667.77 0/1 99 44 23 21 0.48 intronic rs74653364 ILKAP AU NM_030768 exon6 c.13484-116G>A 0.0824681 0.1121 Uncertain 2_239092618_-->CACA 2 239092618 239092618 - CACA indel 4860.73 0/1 99 166 81 85 0.51 intronic rs3217566 ILKAP AU NM_030768 exon6 c.13484-42insCACA 0.109425 0.1022 0.139594 0.1438 0.1053 Uncertain 2_239092893_C->T 2 239092893 239092893 C T snp 118.77 0/1 99 16 11 5 0.31 intronic rs12623230 ILKAP AU NM_030768 exon6 c.13578+139C>T 0.0860623 0.1131 Uncertain 2_239093788_T->C 2 239093788 239093788 T C snp 1440.77 1/1 99 48 0 48 1.0 intronic rs6431588 ILKAP AU NM_030768 exon7 c.14645-33T>C 0.902556 0.994 0.844024 0.8557 0.9931 Uncertain 2_239139909_C->G 2 239139909 239139909 C G snp 1047.77 0/1 99 108 62 46 0.43 ncRNA_intronic rs77950227 LOC151174 AU 0.071885 0.2073 0.0187 0.1820 Uncertain 2_239147490_C->T 2 239147490 239147490 C T snp 419.77 0/1 99 50 27 23 0.46 exonic rs3739061 HES6 AU nonsynonymous SNV NM_018645 exon4 c.G653A p.R218Q 0.0333466 0.1081 0.000545 0.0367 0.2453 0.51 T 0.007 P -0.975 T 0.014 T 0.003 T ID=COSM3709518;OCCURENCE=2(liver) Pathogenic 2_239148970_C->A 2 239148970 239148970 C A snp 568.77 0/1 99 55 32 23 0.42 upstream rs56294817 HES6 AU 0.345248 0.4177 ID=CR0911212;DIS=Decreased expression;TAG=FP;PUB=19481584 FP Uncertain 2_239155053_C->T 2 239155053 239155053 C T snp 597.77 0/1 99 58 26 32 0.55 exonic rs934945 PER2 AD nonsynonymous SNV NM_022817 exon23 c.G3731A p.G1244E 0.17472 0.2639 0.140551 0.2176 0.2977 1 T 0.000 P -0.929 T 0.02 T 0.008 T ID=CM1311754;DIS=Diurnal preference traits, association with;TAG=DP;PUB=23969301 DP Pathogenic 2_239179914_G->A 2 239179914 239179914 G A snp 123.85 0/1 17 5 1 4 0.8 intronic rs2304676 PER2 AD NM_022817 exon18 c.24937-38G>A 0.0982428 0.2351 0.037982 0.0762 0.2436 Uncertain 2_239181904_A->G 2 239181904 239181904 A G snp 850.77 0/1 99 75 41 34 0.45 intronic rs2304674 PER2 AD NM_022817 exon19 c.26817+72A>G 0.348642 0.2877 Uncertain 2_239185922_T->G 2 239185922 239185922 T G snp 248.77 0/1 99 26 16 10 0.38 intronic rs2304673 PER2 AD NM_022817 exon21 c.30819+88T>G 0.0890575 0.122 Uncertain 2_239229372_C->A 2 239229372 239229372 C A snp 1126.77 0/1 99 109 51 58 0.53 exonic rs13398676 TRAF3IP1 AR synonymous SNV NM_015650 exon1 c.C69A p.T23T 0.665136 0.4831 0.760632 0.7208 0.4757 Uncertain 2_239237953_G->T 2 239237953 239237953 G T snp 511.77 0/1 99 58 34 24 0.41 exonic rs12464423 TRAF3IP1 AR nonsynonymous SNV NM_015650 exon5 c.G885T p.K295N 0.205072 0.2351 0.234315 0.2893 0.2341 0.11 T 0.856 P -0.946 T 0.904 T 0.625 P Pathogenic 2_239242719_-->T 2 239242719 239242719 - T indel 109.5 1/1 3 19 1 18 0.95 intronic rs397744396 TRAF3IP1 AR NM_015650 exon7 c.13373+43insT 0.615016 0.5962 0.5292 0.5624 Uncertain 2_239307245_A->G 2 239307245 239307245 A G snp 77.77 0/1 69 5 2 3 0.6 intronic rs571820 TRAF3IP1 AR NM_015650 exon17 c.78091-149A>G 0.663538 0.4841 Uncertain 2_239990590_A->G 2 239990590 239990590 A G snp 893.77 0/1 99 88 49 39 0.44 ncRNA_exonic rs368702187 MIR4440 AU 0.00259585 0.0069 Uncertain 2_240055901_G->A 2 240055901 240055901 G A snp 132.77 0/1 99 18 11 7 0.39 intronic rs2278778 HDAC4 AU NM_006037 exon17 c.81148-39G>A 0.588858 0.8562 0.473624 0.6357 0.8631 Uncertain 2_240061403_C->T 2 240061403 240061403 C T snp 1703.77 0/1 99 138 63 75 0.54 exonic rs76224543 HDAC4 AU nonsynonymous SNV NM_006037 exon9 c.G955A p.A319T 0.0101837 0.0486 0.000538 0.0039 0.0493 1.000 N -1.067 T 0.002 T 0.001 T Pathogenic 2_240066265_C->T 2 240066265 240066265 C T snp 296.77 0/1 99 32 20 12 0.38 intronic rs200268704 HDAC4 AU NM_006037 exon20 c.91486-13C>T 0.000399361 0.002 2.472e-05 0.0003 Uncertain 2_240066417_A->G 2 240066417 240066417 A G snp 5821.77 1/1 99 217 0 217 1.0 intronic rs2290087 HDAC4 AU NM_006037 exon20 c.91618+7A>G 0.88778 0.8482 0.894741 0.8616 0.8436 Uncertain 2_240066526_T->C 2 240066526 240066526 T C snp 1347.77 0/1 99 102 48 54 0.53 intronic rs2290088 HDAC4 AU NM_006037 exon20 c.91618+116T>C 0.690296 0.6637 Uncertain 2_240078488_C->G 2 240078488 240078488 C G snp 2222.77 0/1 99 217 121 96 0.44 intronic rs76103770 HDAC4 AU NM_006037 exon21 c.103677+19C>G 0.0860623 0.1915 0.085499 0.0896 0.1905 Uncertain 2_240083528_G->A 2 240083528 240083528 G A snp 738.77 0/1 99 72 37 35 0.49 intronic rs3791515 HDAC4 AU NM_006037 exon22 c.110706-1970G>A 0.578674 0.4613 0.6925 0.5137 Uncertain 2_240084053_T->A 2 240084053 240084053 T A snp 258.77 0/1 99 22 12 10 0.45 intronic rs3791516 HDAC4 AU NM_006037 exon22 c.110706-1445T>A 0.0876597 0.1915 0.0574 0.2228 0.062 P -1.030 T Uncertain 2_240085403_C->A 2 240085403 240085403 C A snp 174.9 1/1 15 6 0 6 1.0 intronic rs11124182 HDAC4 AU NM_006037 exon22 c.110706-95C>A 0.904553 0.8532 Uncertain 2_240098068_G->A 2 240098068 240098068 G A snp 700.77 0/1 99 57 31 26 0.46 intronic rs56211861 HDAC4 AU NM_006037 exon23 c.123316-40G>A 0.105032 0.1657 0.0877 0.1674 Uncertain 2_240111521_C->T 2 240111521 240111521 C T snp 626.77 0/1 99 61 34 27 0.44 intronic rs2290092 HDAC4 AU NM_006037 exon24 c.136736-7C>T 0.0726837 0.125 0.086000 0.0980 0.1403 Uncertain 2_240111871_G->- 2 240111871 240111871 G - indel 111.73 0/1 99 14 6 8 0.57 intronic rs74761897 HDAC4 AU NM_006037 exon24 c.136981+98delG Uncertain 2_240273229_C->T 2 240273229 240273229 C T snp 855.77 1/1 63 24 0 24 1.0 intronic rs77349060 HDAC4 AU NM_006037 exon26 c.299580-1143C>T 0.28734 0.6647 Uncertain 2_240323661_C->A 2 240323661 240323661 C A snp 3438.77 1/1 99 117 1 116 0.99 intergenic rs1709851 HDAC4 AU 0.761781 0.9395 0.7143 0.9486 -1.035 T Uncertain 2_240323905_-->G 2 240323905 240323905 - G indel 8987.73 1/1 99 215 0 215 1.0 intergenic rs3215239 HDAC4 AU 0.518171 0.8353 0.5482 0.8580 Uncertain 2_240500169_C->T 2 240500169 240500169 C T snp 966.77 0/1 99 90 51 39 0.43 intergenic HDAC4 AU 0 D 1 N -1.044 T 0.984 D 0.35 D Uncertain 2_240500413_A->G 2 240500413 240500413 A G snp 2810.77 0/1 99 250 146 104 0.42 intergenic rs6543554 HDAC4 AU 0.827476 0.6329 0.902102 0.8406 0.6015 Uncertain 2_240504878_C->T 2 240504878 240504878 C T snp 1693.77 0/1 99 150 79 71 0.47 intergenic rs6719279 HDAC4 AU 0.809704 0.6329 Uncertain 2_240684619_G->A 2 240684619 240684619 G A snp 1311.77 0/1 99 148 84 64 0.43 ncRNA_exonic rs6543576 LOC150935 AU 0.289337 0.5863 0.1428 0.5531 0 D -0.942 T Uncertain 2_240900795_C->T 2 240900795 240900795 C T snp 510.77 0/1 99 44 23 21 0.48 intronic rs4077388 NDUFA10 AR,AO NM_004544 exon1 c.69+192C>T 0.152955 0.248 Uncertain 2_240912983_G->T 2 240912983 240912983 G T snp 651.77 0/1 99 90 61 29 0.32 intronic rs73105362 NDUFA10 AR,AO NM_004544 exon1 c.69+12380G>T 0.165935 0.1865 0.1357 0.1728 Uncertain 2_240922822_C->A 2 240922822 240922822 C A snp 229.77 0/1 99 11 4 7 0.64 intronic rs958960 NDUFA10 AR,AO NM_004544 exon2 c.28956-6668C>A 0.722244 0.7837 Uncertain 2_240958129_C->T 2 240958129 240958129 C T snp 405.77 0/1 99 27 11 16 0.59 intronic rs4149540 NDUFA10 AR,AO NM_004544 exon7 c.57522+73C>T 0.683107 0.7778 Uncertain 2_240961728_T->C 2 240961728 240961728 T C snp 3181.78 0/1 99 250 123 127 0.51 exonic rs2083411 NDUFA10 AR,AO synonymous SNV NM_004544 exon2 c.A105G p.K35K 0.702476 0.7867 0.694526 0.6663 0.7785 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000117699.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 2_240961852_A->G 2 240961852 240961852 A G snp 1613.77 0/1 99 133 68 65 0.49 intronic rs7596788 NDUFA10 AR,AO NM_004544 exon9 c.61223+95A>G 0.763179 0.7877 Uncertain 2_240969456_G->A 2 240969456 240969456 G A snp 301.77 0/1 99 250 63 187 0.75 exonic rs201784423 OR6B2 AU nonsynonymous SNV NM_001005853 exon1 c.C391T p.R131C 0.0758 0.1170 0.03 T 0.917 D -1.055 T 0.114 T 0.061 T Pathogenic 2_240969483_G->A 2 240969483 240969483 G A snp 308.77 0/1 99 250 191 59 0.24 exonic rs10176036 OR6B2 AU nonsynonymous SNV NM_001005853 exon1 c.C364T p.R122C 0.25 0.4504 0.3390 0.4248 0.01 T 1.000 P -1.123 T 0.99 D 0.703 D Pathogenic 2_240981072_C->T 2 240981072 240981072 C T snp 48.74 1/1 6 2 0 2 1.0 downstream rs6722509 PRR21 AU 0.669728 0.7798 Uncertain 2_240981102_C->A 2 240981102 240981102 C A snp 218.84 1/1 18 6 0 6 1.0 downstream rs6722520 PRR21 AU 0.415335 0.5754 Uncertain 2_240981179_T->C 2 240981179 240981179 T C snp 1022.77 1/1 75 36 0 36 1.0 downstream rs6731916 PRR21 AU 0.72484 0.7817 0.725881 0.6589 0.7718 Uncertain 2_240981262_A->C 2 240981262 240981262 A C snp 4267.77 1/1 99 143 0 143 1.0 exonic rs6728493 PRR21 AU nonsynonymous SNV NM_001080835 exon1 c.T1138G p.S380A 0.415136 0.5754 0.339228 0.3579 0.5604 0 D 0.000 P -0.953 T 0.673 T 0.139 P Pathogenic 2_240981375_T->A 2 240981375 240981375 T A snp 6726.77 1/1 99 249 0 249 1.0 exonic rs6732185 PRR21 AU nonsynonymous SNV NM_001080835 exon1 c.A1025T p.K342M 0.72484 0.7817 0.723358 0.6583 0.7719 0.06 T 0.0 P -0.930 T 0.274 T 0.003 T Pathogenic 2_240981487_A->G 2 240981487 240981487 A G snp 1911.77 1/1 99 55 0 55 1.0 exonic rs60617721 PRR21 AU nonsynonymous SNV NM_001080835 exon1 c.T913C p.C305R 0.414936 0.5744 0.4939 0.5961 0.77 T 0.0 P -0.940 T 0.033 T 0.003 T Pathogenic 2_240981515_A->G 2 240981515 240981515 A G snp 967.77 1/1 72 24 0 24 1.0 exonic rs59139800 PRR21 AU synonymous SNV NM_001080835 exon1 c.T885C p.H295H 0.416134 0.5754 0.3233 0.5101 Uncertain 2_240981543_A->G 2 240981543 240981543 A G snp 133.03 1/1 12 4 0 4 1.0 exonic rs71428408 PRR21 AU nonsynonymous SNV NM_001080835 exon1 c.T857C p.M286T 0.371805 0.5347 0.0250 0.0446 0.99 T 1 N -0.961 T 0.064 T 0.083 T Pathogenic 2_240981548_G->C 2 240981548 240981548 G C snp 50.74 1/1 6 2 0 2 1.0 exonic rs6711783 PRR21 AU synonymous SNV NM_001080835 exon1 c.C852G p.S284S 0.0046 0.0082 Uncertain 2_240982075_A->G 2 240982075 240982075 A G snp 49.74 1/1 6 9 0 9 1.0 exonic rs139834525 PRR21 AU nonsynonymous SNV NM_001080835 exon1 c.T325C p.C109R 0.442492 0.5446 0.0001 0.0005 0.37 T 0.0 P -0.986 T 0.005 T 0.0 T Pathogenic 2_240982103_A->G 2 240982103 240982103 A G snp 131.9 1/1 15 14 0 14 1.0 exonic rs74344384 PRR21 AU synonymous SNV NM_001080835 exon1 c.T297C p.H99H 0.209864 0.3651 0.079074 8.078e-05 0 Uncertain 2_240982129_G->C 2 240982129 240982129 G C snp 30.77 0/1 59 13 8 5 0.38 exonic rs112308001 PRR21 AU nonsynonymous SNV NM_001080835 exon1 c.C271G p.P91A 0.158347 0.3155 0.025861 3.061e-05 0 0.6 T 1 N -1.033 T 0.001 T 0.002 T Pathogenic 2_240982131_A->G 2 240982131 240982131 A G snp 139.9 1/1 15 12 0 12 1.0 exonic rs79839275 PRR21 AU nonsynonymous SNV NM_001080835 exon1 c.T269C p.M90T 0.267971 0.3591 0.123738 0.0002 0 0.42 T 0.0 P -0.906 T 0.003 T 0.005 T Pathogenic 2_240982142_A->G 2 240982142 240982142 A G snp 139.9 1/1 15 10 0 10 1.0 exonic rs74754936 PRR21 AU synonymous SNV NM_001080835 exon1 c.T258C p.S86S 0.172125 0.3065 0.0003 0.0003 Uncertain 2_240982144_T->C 2 240982144 240982144 T C snp 105.03 1/1 12 10 0 10 1.0 exonic rs79314166 PRR21 AU nonsynonymous SNV NM_001080835 exon1 c.A256G p.S86G 0.146166 0.2639 0.033797 0.0016 0.0187 0.66 T 1 N -0.938 T 0.0 T 0.0 T Pathogenic 2_240982171_A->C 2 240982171 240982171 A C snp 238.8 1/1 21 14 1 13 0.93 exonic rs78953006 PRR21 AU nonsynonymous SNV NM_001080835 exon1 c.T229G p.S77A 0.102236 0.1835 0.053226 5.697e-05 0 0.72 T 0.0 P -0.942 T 0.006 T 0.001 T Pathogenic 2_240982173_A->G 2 240982173 240982173 A G snp 274.78 1/1 24 15 0 15 1.0 exonic rs73107451 PRR21 AU nonsynonymous SNV NM_001080835 exon1 c.T227C p.M76T 0.20607 0.3552 0.116937 0.0081 0 0.8 T 0.0 P -0.945 T 0.003 T 0.009 T Pathogenic 2_240982201_A->G 2 240982201 240982201 A G snp 521.77 1/1 42 18 0 18 1.0 exonic rs73107452 PRR21 AU nonsynonymous SNV NM_001080835 exon1 c.T199C p.C67R 0.290935 0.4752 0.0150 0.0128 0.78 T 0.0 P -0.939 T 0.001 T 0.0 T Pathogenic 2_240982219_A->G 2 240982219 240982219 A G snp 745.77 1/1 57 27 0 27 1.0 exonic rs74006013 PRR21 AU nonsynonymous SNV NM_001080835 exon1 c.T181C p.S61P 0.0113 0.0043 0.06 T 1 N -1.014 T 0.014 T 0.019 T Pathogenic 2_240982228_C->T 2 240982228 240982228 C T snp 669.77 1/1 54 30 2 28 0.93 exonic rs10439373 PRR21 AU nonsynonymous SNV NM_001080835 exon1 c.G172A p.G58S 0.521965 0.506 0.488236 0.4822 0.4779 0.49 T 0.0 P -0.948 T 0.185 T 0.045 T Pathogenic 2_240982247_A->G 2 240982247 240982247 A G snp 1085.77 1/1 81 42 0 42 1.0 exonic rs75044548 PRR21 AU synonymous SNV NM_001080835 exon1 c.T153C p.H51H 0.0237 0.0411 Uncertain 2_240982257_A->G 2 240982257 240982257 A G snp 1248.77 1/1 93 45 0 45 1.0 exonic rs62184587 PRR21 AU nonsynonymous SNV NM_001080835 exon1 c.T143C p.M48T 0.396965 0.4812 0.1255 0.3199 0.28 T 0.0 P -0.914 T 0.0 T 0.0 T Pathogenic 2_240982271_G->A 2 240982271 240982271 G A snp 1484.77 1/1 99 56 2 54 0.96 exonic rs76841013 PRR21 AU synonymous SNV NM_001080835 exon1 c.C129T p.H43H 0.244808 0.4167 0.0835 0.2858 Uncertain 2_240982443_C->T 2 240982443 240982443 C T snp 1950.77 1/1 99 68 0 68 1.0 upstream rs34596708 PRR21 AU 0.304113 0.5704 0.227849 0.2669 0.5324 Uncertain 2_240982449_C->T 2 240982449 240982449 C T snp 1786.77 1/1 99 60 0 60 1.0 upstream rs35318485 PRR21 AU 0.304313 0.5704 0.226434 0.2638 0.5266 Uncertain 2_240984789_C->T 2 240984789 240984789 C T snp 2600.77 1/1 99 86 0 86 1.0 exonic rs12465491 OR6B3 AU nonsynonymous SNV NM_173351 exon1 c.G701A p.C234Y 0.298522 0.5595 0.241423 0.2811 0.5489 0.01 T 0.0 P -1.010 T 0.047 T 0.158 T Pathogenic 2_240985099_G->A 2 240985099 240985099 G A snp 604.77 1/1 57 245 53 192 0.78 exonic rs150098707 OR6B3 AU nonsynonymous SNV NM_173351 exon1 c.C391T p.R131C 0.659744 0.7688 0.6031 0.7685 0.08 T 0.779 P -1.076 T 0.035 T 0.014 T Pathogenic 2_240985347_G->A 2 240985347 240985347 G A snp 2173.77 1/1 99 142 1 141 0.99 exonic rs13030992 OR6B3 AU nonsynonymous SNV NM_173351 exon1 c.C143T p.T48I 0.4435 0.5802 0.14 T 0.105 P -1.252 T 0.952 T 0.583 D Pathogenic 2_240985511_A->G 2 240985511 240985511 A G snp 508.77 1/1 39 14 0 14 1.0 upstream rs10933560 OR6B3 AU 0.600839 0.7708 0.589446 0.5592 0.7688 Uncertain 2_241066280_C->T 2 241066280 241066280 C T snp 3713.77 1/1 99 129 0 129 1.0 exonic rs4292120 MYEOV2 AU synonymous SNV NM_138336 exon5 c.G459A p.E153E 0.719848 0.7252 0.671690 0.6043 0.7380 Uncertain 2_241073170_C->T 2 241073170 241073170 C T snp 1270.77 1/1 93 38 0 38 1.0 intronic rs747741 MYEOV2 AU NM_001163424 exon2 c.2882-179C>T 0.338458 0.1806 Uncertain 2_241073450_C->T 2 241073450 241073450 C T snp 1113.77 1/1 81 37 0 37 1.0 intronic rs3749078 MYEOV2 AU NM_001163424 exon2 c.2955+28C>T 0.311302 0.1806 0.339228 0.3065 0.1872 Uncertain 2_241075809_C->T 2 241075809 241075809 C T snp 803.77 1/1 60 28 0 28 1.0 upstream rs13406410 MYEOV2 AU 0.639377 0.629 0.699469 0.5729 0.7035 Uncertain 2_241078945_C->T 2 241078945 241078945 C T snp 130.03 1/1 12 4 0 4 1.0 intronic rs903759 OTOS AU NM_148961 exon1 c.185+174C>T 0.281949 0.1587 Uncertain 2_241395503_T->C 2 241395503 241395503 T C snp 438.77 0/1 99 58 38 20 0.34 ncRNA_exonic rs2292832 MIR149 AU 0.613419 0.3631 0.777501 0.6122 0.4024 ID=CR1314358;DIS=Gastric cancer, lower risk in males;TAG=DP;PUB=23001871 DP Uncertain 2_241403956_TGACGCCTGCGTGTGCGTGTCAACGCCTGTGTGCGCGCGT->- 2 241403956 241403995 TGACGCCTGCGTGTGCGTGTCAACGCCTGTGTGCGCGCGT - indel 15089.7 0/1 99 116 74 42 0.36 intronic rs369472922 GPC1 AU NM_002081 exon5 c.28697-76_28697-37delTGACGCCTGCGTGTGCGTGTCAACGCCTGTGTGCGCGCGT 0.517173 0.3135 Uncertain 2_241404317_C->T 2 241404317 241404317 C T snp 1132.77 0/1 99 81 34 47 0.58 exonic rs2229458 GPC1 AU synonymous SNV NM_002081 exon6 c.C1059T p.P353P 0.516773 0.3026 0.600801 0.5749 0.3623 0.06 T 0.0 P -1.023 T Likely benign 2_241404499_C->T 2 241404499 241404499 C T snp 1025.77 0/1 99 107 64 43 0.4 exonic rs2228327 GPC1 AU synonymous SNV NM_002081 exon7 c.C1140T p.S380S 0.247404 0.0893 0.307609 0.3553 0.1659 1.000 P Uncertain 2_241405454_G->A 2 241405454 241405454 G A snp 362.77 0/1 99 38 21 17 0.45 intronic rs6760745 GPC1 AU NM_002081 exon9 c.30139-20G>A 0.342652 0.2867 0.351818 0.3772 0.3438 Uncertain 2_241405528_A->G 2 241405528 241405528 A G snp 875.77 0/1 99 89 49 40 0.45 exonic rs2228331 GPC1 AU nonsynonymous SNV NM_002081 exon9 c.A1498G p.S500G 0.664337 0.3383 0.773377 0.6642 0.3346 1 T 0.0 P -0.972 T 0.0 T 0.0 T Pathogenic 2_241405693_C->A 2 241405693 241405693 C A snp 1285.77 0/1 99 138 77 61 0.44 exonic rs201886628 GPC1 AU nonsynonymous SNV NM_002081 exon9 c.C1663A p.P555T 0.000599042 0.003 0.0001 0.0013 0.4 T 1 N -1.021 T 0.292 T 0.066 T Pathogenic 2_241439337_G->A 2 241439337 241439337 G A snp 725.77 0/1 99 61 32 29 0.48 intronic rs12994534 ANKMY1 AU NM_001282781 exon4 c.20349-37G>A 0.43151 0.751 0.291101 0.4356 0.7449 Uncertain 2_241440020_T->C 2 241440020 241440020 T C snp 2621.77 0/1 99 243 129 114 0.47 intronic rs12986801 ANKMY1 AU NM_001282781 exon5 c.20957+38T>C 0.554912 0.7808 0.453322 0.5586 0.7646 Uncertain 2_241446952_G->A 2 241446952 241446952 G A snp 426.77 0/1 99 47 28 19 0.4 intronic rs74388234 ANKMY1 AU NM_001282781 exon6 c.27951-24G>A 0.0850639 0.0714 0.076734 0.0951 0.0783 Uncertain 2_241448660_-->GATA 2 241448660 241448660 - GATA indel 657.73 0/1 99 28 14 14 0.5 intronic rs564955310 ANKMY1 AU NM_001282781 exon7 c.29739-104insGATA 0.290535 0.3413 Uncertain 2_241451351_G->A 2 241451351 241451351 G A snp 1054.77 0/1 99 97 48 49 0.51 exonic rs35044862 ANKMY1 AU nonsynonymous SNV NM_001282780 exon9 c.C1523T p.T508M 0.177516 0.1855 0.147317 0.1238 0.2071 0.1 T 0.0 P -1.118 T 0.828 T 0.308 P Pathogenic 2_241452068_C->T 2 241452068 241452068 C T snp 105.77 0/1 99 11 7 4 0.36 intronic rs12695024 ANKMY1 AU NM_001282781 exon9 c.33193-150C>T 0.676518 0.7877 Uncertain 2_241452198_T->C 2 241452198 241452198 T C snp 1450.77 0/1 99 170 102 68 0.4 intronic rs12695025 ANKMY1 AU NM_001282781 exon9 c.33193-20T>C 0.677316 0.7877 0.633554 0.6945 0.7702 Uncertain 2_241452212_T->C 2 241452212 241452212 T C snp 1810.77 0/1 99 189 113 76 0.4 intronic rs12695026 ANKMY1 AU NM_001282781 exon9 c.33193-6T>C 0.677117 0.7877 0.633708 0.6952 0.7710 Uncertain 2_241463453_C->A 2 241463453 241463453 C A snp 2814.77 0/1 99 250 140 110 0.44 exonic rs3821348 ANKMY1 AU nonsynonymous SNV NM_001282780 exon6 c.G991T p.V331L 0.163339 0.0992 0.144241 0.1727 0.1116 0.31 T 0.0 P -1.105 T 0.002 T 0.002 T Pathogenic 2_241471593_AAG->- 2 241471593 241471595 AAG - indel 1182.73 0/1 99 70 42 28 0.4 intronic rs143294477 ANKMY1 AU NM_016552 exon14 c.49901+2667_49901+2669delAAG 0.161142 0.0992 0.2051 0.0953 Uncertain 2_241492255_G->T 2 241492255 241492255 G T snp 2127.77 0/1 99 190 92 98 0.52 intronic rs4676428 ANKMY1 AU NM_001282781 exon14 c.73305-75G>T 0.725839 0.8214 0.7112 0.8283 Uncertain 2_241496567_A->G 2 241496567 241496567 A G snp 532.77 0/1 99 66 42 24 0.36 intronic rs7609147 ANKMY1 AU NM_001282781 exon16 c.77581-39A>G 0.33746 0.124 0.392211 0.3890 0.1440 Uncertain 2_241500674_C->G 2 241500674 241500674 C G snp 1229.77 1/1 90 42 0 42 1.0 intronic rs4676426 DUSP28 AU NM_001033575 exon2 c.645-72C>G 0.485623 0.2867 Uncertain 2_241512470_G->T 2 241512470 241512470 G T snp 1902.77 1/1 99 64 0 64 1.0 intronic rs2001823 RNPEPL1 AU NM_018226 exon3 c.4523-56G>T 0.735823 0.9812 Uncertain 2_241515813_C->T 2 241515813 241515813 C T snp 267.8 1/1 21 7 0 7 1.0 intronic rs2975794 RNPEPL1 AU NM_018226 exon9 c.7948-138C>T 0.832468 0.9633 Uncertain 2_241516454_C->T 2 241516454 241516454 C T snp 453.77 0/1 99 38 21 17 0.45 intronic rs76077520 RNPEPL1 AU NM_018226 exon10 c.8404+47C>T 0.0796725 0.2302 0.014547 0.0439 0.2264 Uncertain 2_241517314_G->A 2 241517314 241517314 G A snp 378.77 0/1 99 48 29 19 0.4 UTR3 rs3749161 RNPEPL1 AU 0.100439 0.2163 0.036149 0.0790 0.2499 Uncertain 2_241531737_A->G 2 241531737 241531737 A G snp 535.77 0/1 99 46 25 21 0.46 intronic rs2975762 CAPN10 AU NM_023083 exon4 c.5239+170A>G 0.51258 0.6488 Uncertain 2_241531989_G->A 2 241531989 241531989 G A snp 315.77 0/1 99 30 18 12 0.4 intronic rs535537972 CAPN10 AU NM_023083 exon4 c.5239+422G>A 0.000399361 0.001 Uncertain 2_241533845_T->C 2 241533845 241533845 T C snp 912.77 1/1 69 27 0 27 1.0 intronic rs2975763 CAPN10 AU NM_023083 exon6 c.7631-114T>C 0.899161 0.9841 Uncertain 2_241534381_A->G 2 241534381 241534381 A G snp 251.8 1/1 21 7 0 7 1.0 intronic rs2975764 CAPN10 AU NM_023083 exon7 c.8112-59A>G 0.838858 0.9851 Uncertain 2_241536053_C->T 2 241536053 241536053 C T snp 501.77 0/1 99 39 21 18 0.46 intronic rs2953171 CAPN10 AU NM_023083 exon9 c.9769-44C>T 0.200479 0.3016 0.143635 0.1890 0.2793 Uncertain 2_241537421_G->A 2 241537421 241537421 G A snp 1380.77 0/1 99 117 58 59 0.5 exonic rs3749166 CAPN10 AU synonymous SNV NM_023083 exon10 c.G1860A p.A620A 0.511781 0.6488 0.516226 0.5811 0.6594 Uncertain 2_241537618_C->- 2 241537618 241537618 C - indel 1324.73 0/1 99 55 19 36 0.65 intronic rs58715822 CAPN10 AU NM_023083 exon10 c.11176+114delC 0.511981 0.6488 Uncertain 2_241538074_A->G 2 241538074 241538074 A G snp 3683.77 1/1 99 130 0 130 1.0 exonic rs2975766 CAPN10 AU nonsynonymous SNV NM_023083 exon12 c.A1996G p.I666V 0.989816 1 0.978973 0.9799 0.9996 0.75 T 0.956 P -0.942 T 0.008 T 0.003 T Pathogenic 2_241538229_A->G 2 241538229 241538229 A G snp 351.77 0/1 99 24 11 13 0.54 UTR3 rs2975767 CAPN10 AU 0.726438 0.7698 Uncertain 2_241555705_G->A 2 241555705 241555705 G A snp 40.77 0/1 31 3 1 2 0.67 intronic rs2975776 GPR35 AU 0.171326 0.2946 Uncertain 2_241555784_G->T 2 241555784 241555784 G T snp 446.77 0/1 99 31 15 16 0.52 intronic rs12052926 GPR35 AU 0.495208 0.6587 0.460172 0.5295 0.6621 Uncertain 2_241558397_G->A 2 241558397 241558397 G A snp 962.77 0/1 99 86 43 43 0.5 exonic rs6437353 GPR35 AU nonsynonymous SNV NM_001195381 exon5 c.G38A p.R13H 0.476038 0.619 0.5272 0.5673 0.32 T 0.0 P -0.929 T Pathogenic 2_241558547_G->A 2 241558547 241558547 G A snp 718.77 0/1 99 75 41 34 0.45 intronic rs7582275 GPR35 AU NM_001195382 exon5 c.89+99G>A 0.504393 0.628 Uncertain 2_241558645_G->A 2 241558645 241558645 G A snp 192.77 0/1 99 10 4 6 0.6 intronic rs77915963 GPR35 AU NM_001195382 exon5 c.89+197G>A 0.0942492 0.2093 Uncertain 2_241569329_A->G 2 241569329 241569329 A G snp 724.77 0/1 99 76 43 33 0.43 intronic rs2975785 GPR35 AU NM_001195382 exon6 c.11006-36A>G 0.504193 0.7113 0.435568 0.5321 0.7015 Uncertain 2_241569742_C->T 2 241569742 241569742 C T snp 1681.77 0/1 99 124 58 66 0.53 exonic rs34778053 GPR35 AU nonsynonymous SNV NM_005301 exon2 c.C373T p.R125C 0.000399361 0.001 8.564e-05 0.0001 0.01 T 1.000 N -0.371 T 1.0 D 0.987 D Pathogenic 2_241570249_A->C 2 241570249 241570249 A C snp 2719.77 0/1 99 217 111 106 0.49 exonic rs3749172 GPR35 AU nonsynonymous SNV NM_005301 exon2 c.A880C p.S294R 0.515974 0.7113 0.457097 0.5594 0.7049 0.57 T 0.0 P -0.969 T 0.0 T 0.0 T Pathogenic 2_241570391_A->G 2 241570391 241570391 A G snp 254.8 1/1 21 8 0 8 1.0 UTR3 rs2975786 GPR35 AU 0.836661 1 Uncertain 2_241619614_C->T 2 241619614 241619614 C T snp 46.74 1/1 6 2 0 2 1.0 intronic rs142193573 AQP12B AU NM_001102467 exon2 c.3807-154C>T Uncertain 2_241622069_G->A 2 241622069 241622069 G A snp 420.77 0/1 99 64 46 18 0.28 exonic rs4676387 AQP12B AU synonymous SNV NM_001102467 exon1 c.C186T p.P62P 0.0597045 0.1528 0.001692 0.0371 0.1471 Uncertain 2_241622187_C->T 2 241622187 241622187 C T snp 1569.77 0/1 99 124 54 70 0.56 exonic rs4081909 AQP12B AU nonsynonymous SNV NM_001102467 exon1 c.G68A p.R23Q 0.21885 0.2649 0.139654 0.1681 0.3133 0.000 P -0.994 T 0.997 D 0.764 D Pathogenic 2_241622209_T->C 2 241622209 241622209 T C snp 1602.77 0/1 99 127 58 69 0.54 exonic rs4081908 AQP12B AU nonsynonymous SNV NM_001102467 exon1 c.A46G p.T16A 0.694688 0.5069 0.743203 0.7088 0.4355 0.000 P -1.071 T 0.0 T 0.0 T Pathogenic 2_241627040_G->T 2 241627040 241627040 G T snp 56.74 1/1 6 2 0 2 1.0 intergenic rs11686024 AQP12B AU 0.186901 0.2113 Uncertain 2_241627836_G->C 2 241627836 241627836 G C snp 1046.77 0/1 99 72 30 42 0.58 intergenic rs1003972 AQP12B AU 0.186502 0.2093 0.1188 0.2025 Uncertain 2_241627928_A->G 2 241627928 241627928 A G snp 1943.77 0/1 99 144 63 81 0.56 intergenic rs1560619 AQP12B AU 0.652556 0.6498 0.5795 0.6286 0 D -0.974 T Uncertain 2_241659368_C->A 2 241659368 241659368 C A snp 348.78 1/1 27 10 0 10 1.0 intronic rs6437368 KIF1A AR,AD NM_001244008 exon4 c.2563+25C>A 0.820088 0.9206 0.769012 0.7736 0.9035 Uncertain 2_241660978_T->C 2 241660978 241660978 T C snp 218.84 1/1 18 6 0 6 1.0 intronic rs2060193 KIF1A AR,AD NM_001244008 exon6 c.4443-245T>C 0.941094 0.997 Uncertain 2_241663019_C->T 2 241663019 241663019 C T snp 198.77 0/1 97 10 3 7 0.7 intronic rs2043252 KIF1A AR,AD NM_001244008 exon8 c.6195+44C>T 0.338858 0.3343 0.263591 0.3907 0.3581 Uncertain 2_241664801_C->T 2 241664801 241664801 C T snp 2181.77 0/1 99 179 83 96 0.54 exonic rs2241683 KIF1A AR,AD synonymous SNV NM_004321 exon37 c.G3840A p.P1280P 0.0870607 0.3313 0.005486 0.0377 0.3077 1.000 P -0.938 T CLINSIG=probable-non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=no_assertion_criteria_provided|criteria_provided\x2c_single_submitter;CLNACC=RCV000117400.2|RCV000126511.1;CLNDSDB=MedGen|MedGen;CLNDSDBID=CN169374|CN221809 Likely benign 2_241667783_C->T 2 241667783 241667783 C T snp 918.77 0/1 99 88 44 44 0.5 intronic rs3772048 KIF1A AR,AD NM_001244008 exon11 c.9577+1426C>T 0.121406 0.3651 0.0228 0.3635 Uncertain 2_241674222_T->C 2 241674222 241674222 T C snp 443.77 0/1 99 35 16 19 0.54 intronic rs3755533 KIF1A AR,AD NM_001244008 exon12 c.19699-2257T>C Uncertain 2_241680633_G->T 2 241680633 241680633 G T snp 269.77 0/1 99 20 8 12 0.6 intronic rs4414678 KIF1A AR,AD NM_001244008 exon15 c.23905-52G>T 0.491414 0.5565 Uncertain 2_241680802_G->A 2 241680802 241680802 G A snp 846.77 0/1 99 61 27 34 0.56 intronic rs56024577 KIF1A AR,AD NM_001244008 exon15 c.24014+8G>A 0.290935 0.4226 0.185257 0.4145 0.5409 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000117398.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 2_241684660_T->C 2 241684660 241684660 T C snp 31.77 0/1 60 8 6 2 0.25 intronic rs1529665 KIF1A AR,AD NM_001244008 exon18 c.28063-183T>C 0.591653 0.6944 Uncertain 2_241686737_G->C 2 241686737 241686737 G C snp 596.77 0/1 99 67 37 30 0.45 exonic KIF1A AR,AD synonymous SNV NM_004321 exon26 c.C2676G p.A892A 1 D -0.829 T Likely benign 2_241702561_T->A 2 241702561 241702561 T A snp 798.77 0/1 99 65 31 34 0.52 intronic rs11688298 KIF1A AR,AD NM_001244008 exon29 c.45802-21T>A 0.602436 0.6964 0.602864 0.5463 0.6522 Uncertain 2_241706166_T->A 2 241706166 241706166 T A snp 67.77 0/1 96 14 10 4 0.29 intronic rs10804413 KIF1A AR,AD NM_001244008 exon31 c.49551-165T>A Uncertain 2_241708675_C->T 2 241708675 241708675 C T snp 614.77 0/1 99 49 27 22 0.45 intronic rs2288753 KIF1A AR,AD NM_001244008 exon33 c.51845+50C>T 0.335264 0.5714 0.253223 0.3090 0.5662 Uncertain 2_241713429_T->C 2 241713429 241713429 T C snp 385.77 0/1 99 18 5 13 0.72 intronic rs2288751 KIF1A AR,AD NM_001244008 exon38 c.56819-170T>C 0.526558 0.622 Uncertain 2_241713646_A->G 2 241713646 241713646 A G snp 2767.77 0/1 99 226 107 119 0.53 exonic rs1063353 KIF1A AR,AD synonymous SNV NM_004321 exon11 c.T991C p.L331L 0.513578 0.622 0.448559 0.3862 0.5868 1.0 P -0.957 T CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000117403.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Likely benign 2_241722202_G->A 2 241722202 241722202 G A snp 80.77 0/1 96 6 3 3 0.5 intronic rs56130735 KIF1A AR,AD NM_001244008 exon40 c.65244+178G>A 0.226637 0.3393 Uncertain 2_241722445_G->A 2 241722445 241722445 G A snp 1381.77 0/1 99 102 47 55 0.54 intronic rs2288750 KIF1A AR,AD NM_001244008 exon41 c.65680-15G>A 0.288339 0.3403 0.273265 0.2229 0.3278 0 D 0.0 P -0.983 T Uncertain 2_241722613_A->G 2 241722613 241722613 A G snp 617.77 0/1 99 41 20 21 0.51 intronic rs2288749 KIF1A AR,AD NM_001244008 exon41 c.65746+87A>G 0.540335 0.4891 Uncertain 2_241723070_C->T 2 241723070 241723070 C T snp 295.77 0/1 99 15 6 9 0.6 intronic rs117469190 KIF1A AR,AD NM_001244008 exon42 c.66375-85C>T 0.0175719 0.0744 Uncertain 2_241723427_A->G 2 241723427 241723427 A G snp 219.77 0/1 99 13 6 7 0.54 intronic rs2288748 KIF1A AR,AD NM_001244008 exon42 c.66453+194A>G 0.290335 0.3442 Uncertain 2_241726646_A->G 2 241726646 241726646 A G snp 2250.77 0/1 99 206 106 100 0.49 intronic rs2288746 KIF1A AR,AD NM_001244008 exon45 c.69887-21A>G 0.483227 0.4365 0.521582 0.4230 0.4308 Uncertain 2_241726692_G->A 2 241726692 241726692 G A snp 2411.77 0/1 99 199 99 100 0.5 exonic rs151212200 KIF1A AR,AD synonymous SNV NM_004321 exon4 c.C405T p.N135N 0.000798722 0.004 0.000080 0.0008 0.0086 Uncertain 2_241728843_C->T 2 241728843 241728843 C T snp 376.77 0/1 99 31 14 17 0.55 intronic rs2288745 KIF1A AR,AD NM_001244008 exon47 c.71949+114C>T 0.353634 0.4187 Uncertain 2_241737017_C->A 2 241737017 241737017 C A snp 1210.77 0/1 99 111 54 57 0.51 intronic rs10167412 KIF1A AR,AD NM_001244008 exon48 c.80283-46C>A 0.322085 0.3978 0.318665 0.3288 0.4139 Uncertain 2_241810957_C->T 2 241810957 241810957 C T snp 264.77 0/1 99 19 9 10 0.53 intronic rs10196315 AGXT AR NM_000030 exon4 c.2584+91C>T 0.239816 0.2391 Uncertain 2_241812566_G->A 2 241812566 241812566 G A snp 242.77 0/1 99 29 19 10 0.34 intronic rs12997245 AGXT AR NM_000030 exon5 c.4184+100G>A 0.304313 0.2431 Uncertain 2_241815308_A->G 2 241815308 241815308 A G snp 2154.77 0/1 99 196 100 96 0.49 intronic rs12464426 AGXT AR NM_000030 exon8 c.7069-43A>G 0.78135 0.7808 0.806935 0.7258 0.7642 Uncertain 2_241815473_G->A 2 241815473 241815473 G A snp 1142.77 0/1 99 76 35 41 0.54 intronic rs12695032 AGXT AR NM_000030 exon8 c.7139+52G>A 0.343251 0.3393 0.426155 0.4822 0.3403 Uncertain 2_241816545_C->T 2 241816545 241816545 C T snp 823.77 0/1 99 49 17 32 0.65 intronic rs6732985 AGXT AR NM_000030 exon9 c.8671-408C>T 0.256789 0.2649 0.3577 0.3333 Uncertain 2_241817322_C->T 2 241817322 241817322 C T snp 277.9 0/1 15 9 1 8 0.89 intronic rs10199038 AGXT AR NM_000030 exon10 c.9156-116C>T 0.252196 0.2599 Uncertain 2_241817516_A->G 2 241817516 241817516 A G snp 3485.77 0/1 99 250 103 147 0.59 exonic rs4426527 AGXT AR nonsynonymous SNV NM_000030 exon10 c.A1020G p.I340M 0.111222 0.0883 0.159157 0.1653 0.0860 0.81 T 0.000 P -1.061 T 0.0 T 0.001 T ID=CM910018;DIS=Hyperoxaluria, association with;TAG=DFP;PUB=1703535 DFP Pathogenic 2_241818017_G->A 2 241818017 241818017 G A snp 114.77 0/1 58 6 2 4 0.67 intronic rs35566646 AGXT AR NM_000030 exon11 c.9848-113G>A 0.301518 0.2599 Uncertain 2_241818279_C->A 2 241818279 241818279 C A snp 2484.77 0/1 99 181 73 108 0.6 UTR3 rs4273214 AGXT AR 0.252196 0.2599 0.304469 0.3572 0.2938 Uncertain 2_241826517_C->T 2 241826517 241826517 C T snp 2201.77 0/1 99 191 88 103 0.54 exonic rs12616061 C2orf54 AU synonymous SNV NM_001085437 exon5 c.G1314A p.K438K 0.126797 0.3105 0.037498 0.0532 0.3228 Uncertain 2_241826754_G->A 2 241826754 241826754 G A snp 459.77 1/1 36 12 0 12 1.0 intronic rs10933510 C2orf54 AU NM_001282921 exon1 c.93+175G>A 0.545727 0.5744 Uncertain 2_241827618_T->C 2 241827618 241827618 T C snp 142.77 0/1 99 14 9 5 0.36 intronic rs6707763 C2orf54 AU NM_001282921 exon2 c.1222-90T>C 0.356629 0.2639 Uncertain 2_241827696_A->G 2 241827696 241827696 A G snp 1044.77 1/1 75 36 0 36 1.0 intronic rs4675869 C2orf54 AU NM_001282921 exon2 c.1222-12A>G 0.718251 0.752 0.782460 0.6871 0.7289 Uncertain 2_241828012_T->C 2 241828012 241828012 T C snp 3563.77 1/1 99 130 0 130 1.0 exonic rs6708304 C2orf54 AU synonymous SNV NM_001085437 exon4 c.A948G p.E316E 0.567692 0.5278 0.587994 0.5045 0.5004 Uncertain 2_241828034_A->G 2 241828034 241828034 A G snp 2641.77 1/1 99 90 0 90 1.0 exonic rs6707568 C2orf54 AU nonsynonymous SNV NM_001085437 exon4 c.T926C p.L309P 0.988219 1 0.986629 0.9795 0.9952 0 D 0.919 P -0.902 T 0.0 T 0.0 T Pathogenic 2_241829610_G->A 2 241829610 241829610 G A snp 900.77 0/1 99 52 21 31 0.6 intronic rs78391362 C2orf54 AU NM_001282921 exon3 c.3089+35G>A 0.0303514 0.0873 0.000592 0.0148 0.0848 Uncertain 2_241829648_C->T 2 241829648 241829648 C T snp 299.77 0/1 99 20 9 11 0.55 intronic rs74954477 C2orf54 AU NM_001282921 exon3 c.3089+73C>T 0.0299521 0.0863 Uncertain 2_241830944_G->T 2 241830944 241830944 G T snp 967.77 0/1 99 86 44 42 0.49 intronic rs10171053 C2orf54 AU NM_001282921 exon4 c.4468-10G>T 0.523962 0.4405 0.575193 0.4851 0.4062 Uncertain 2_241830969_G->A 2 241830969 241830969 G A snp 1121.77 0/1 99 114 63 51 0.45 exonic rs10171067 C2orf54 AU synonymous SNV NM_001085437 exon2 c.C726T p.S242S 0.527157 0.4415 0.576528 0.4811 0.4074 Uncertain 2_241831005_C->T 2 241831005 241831005 C T snp 1655.77 0/1 99 150 78 72 0.48 exonic rs10195453 C2orf54 AU synonymous SNV NM_001085437 exon2 c.G690A p.R230R 0.526558 0.4405 0.574797 0.4803 0.4076 Uncertain 2_241831264_G->A 2 241831264 241831264 G A snp 1564.77 0/1 99 171 94 77 0.45 intronic rs6737320 C2orf54 AU NM_001282921 exon5 c.4803-25G>A 0.526957 0.4405 0.565922 0.5179 0.4411 Uncertain 2_241831296_C->G 2 241831296 241831296 C G snp 1468.77 0/1 99 141 76 65 0.46 exonic rs6709469 C2orf54 AU nonsynonymous SNV NM_001282921 exon1 c.G61C p.A21P 0.526957 0.4405 0.571213 0.5150 0.4437 0 D 0.000 P -1.047 T 0.637 T 0.047 P Pathogenic 2_241831471_C->T 2 241831471 241831471 C T snp 312.77 0/1 99 17 5 12 0.71 intronic rs6709742 C2orf54 AU NM_001282921 exon5 c.4969+16C>T 0.527157 0.4405 Uncertain 2_241831472_A->G 2 241831472 241831472 A G snp 317.77 0/1 99 17 5 12 0.71 intronic rs6724533 C2orf54 AU NM_001282921 exon5 c.4969+17A>G 0.527157 0.4405 Uncertain 2_241834770_A->G 2 241834770 241834770 A G snp 345.78 1/1 27 9 0 9 1.0 intronic rs4293565 C2orf54 AU NM_001085437 exon5 c.8414-130A>G 0.738818 0.753 Uncertain 2_241834834_C->T 2 241834834 241834834 C T snp 481.77 0/1 99 33 15 18 0.55 intronic rs117274806 C2orf54 AU NM_001085437 exon5 c.8414-66C>T 0.0305511 0.0863 Uncertain 2_241834875_G->A 2 241834875 241834875 G A snp 936.77 0/1 99 68 32 36 0.53 intronic rs3936205 C2orf54 AU NM_001085437 exon5 c.8414-25G>A 0.18131 0.3125 0.167774 0.3183 0.4675 Uncertain 2_241834944_T->C 2 241834944 241834944 T C snp 1627.77 0/1 99 154 86 68 0.44 exonic rs4468809 C2orf54 AU synonymous SNV NM_001085437 exon1 c.A471G p.V157V 0.527157 0.4405 0.571704 0.5466 0.4764 Uncertain 2_241835379_G->A 2 241835379 241835379 G A snp 640.77 0/1 99 50 25 25 0.5 exonic rs12105122 C2orf54 AU synonymous SNV NM_001085437 exon1 c.C36T p.A12A 0.523962 0.4415 0.579826 0.5469 0.4614 Uncertain 2_241835421_A->G 2 241835421 241835421 A G snp 352.77 0/1 99 28 12 16 0.57 UTR5 rs13426919 C2orf54 AU 0.355831 0.2639 0.372045 0.4104 0.2578 Uncertain 2_241835432_G->A 2 241835432 241835432 G A snp 337.77 0/1 99 27 13 14 0.52 UTR5 rs10933514 C2orf54 AU 0.527356 0.4405 0.604318 0.5421 0.4895 Uncertain 2_241859255_T->G 2 241859255 241859255 T G snp 152.77 0/1 99 10 5 5 0.5 intergenic rs4675790 C2orf54 AU 0.621605 0.5 Uncertain 2_241861904_G->C 2 241861904 241861904 G C snp 784.77 0/1 99 54 21 33 0.61 intergenic rs4514870 C2orf54 AU 0.390375 0.5089 Uncertain 2_241862251_G->A 2 241862251 241862251 G A snp 40.77 0/1 69 7 4 3 0.43 intergenic rs74633770 C2orf54 AU 0.0597045 0.1577 Uncertain 2_241865156_T->C 2 241865156 241865156 T C snp 3856.77 1/1 99 141 0 141 1.0 intergenic rs4675847 C2orf54 AU 0.789736 0.8889 0.6659 0.8848 -1.033 T Uncertain 2_241868956_G->A 2 241868956 241868956 G A snp 255.77 0/1 99 19 9 10 0.53 intergenic rs4407242 C2orf54 AU 0.471645 0.7321 Uncertain 2_241869378_A->T 2 241869378 241869378 A T snp 37.77 0/1 66 7 5 2 0.29 intergenic rs6756731 C2orf54 AU 0.385383 0.505 Uncertain 2_241870534_G->A 2 241870534 241870534 G A snp 483.77 0/1 99 61 42 19 0.31 intergenic rs75494813 C2orf54 AU 0.0595048 0.1558 0.0537 0.1361 0.2 T -1.024 T Uncertain 2_241871956_G->T 2 241871956 241871956 G T snp 385.77 0/1 99 47 32 15 0.32 intergenic rs12472087 C2orf54 AU 0.383986 0.495 0.4291 0.4677 Uncertain 2_241872398_AGTTATGGGGCCTGCCCCTG->- 2 241872398 241872417 AGTTATGGGGCCTGCCCCTG - indel 2208.73 0/1 99 18 6 12 0.67 intergenic rs146363623 C2orf54 AU 0.0615016 0.1657 Uncertain 2_241872597_A->G 2 241872597 241872597 A G snp 2233.77 1/1 99 85 0 85 1.0 intergenic rs4441463 C2orf54 AU 0.678914 0.6607 0.6116 0.6370 1 T -0.974 T Uncertain 2_241873180_A->G 2 241873180 241873180 A G snp 482.77 0/1 99 43 23 20 0.47 intergenic rs74000152 C2orf54 AU 0.0756789 0.1627 0.0503 0.1485 -1.031 T Uncertain 2_241874559_T->C 2 241874559 241874559 T C snp 783.77 0/1 99 86 50 36 0.42 intergenic rs12618707 C2orf54 AU 0.46865 0.502 Uncertain 2_241874844_G->A 2 241874844 241874844 G A snp 755.77 0/1 99 58 26 32 0.55 intergenic rs117744203 C2orf54 AU 0.0607029 0.1627 0.0388 0.2079 0.28 T -0.964 T Uncertain 2_241874893_G->A 2 241874893 241874893 G A snp 654.77 0/1 99 43 19 24 0.56 intergenic rs78656795 C2orf54 AU 0.0754792 0.1627 0.0749 0.3387 0.12 T -1.049 T Uncertain 2_241889171_G->A 2 241889171 241889171 G A snp 33.77 0/1 62 4 2 2 0.5 intergenic rs12479396 C2orf54 AU 0.514177 0.497 Uncertain 2_241889798_C->T 2 241889798 241889798 C T snp 371.77 0/1 99 40 24 16 0.4 intergenic rs117091177 C2orf54 AU 0.0607029 0.1627 0.0457 0.1463 -1.043 T Uncertain 2_241889937_A->G 2 241889937 241889937 A G snp 1314.77 1/1 93 53 0 53 1.0 intergenic rs4077132 C2orf54 AU 0.683506 0.6597 0.6237 0.6307 Uncertain 2_241898824_A->G 2 241898824 241898824 A G snp 1458.77 1/1 99 55 0 55 1.0 ncRNA_exonic rs10169006 LOC200772 AU 0.683506 0.6597 0.5989 0.6285 0.99 T -0.986 T Uncertain 2_241898947_G->T 2 241898947 241898947 G T snp 76.77 0/1 99 12 7 5 0.42 ncRNA_intronic rs10179839 LOC200772 AU 0.514976 0.496 Uncertain 2_241904001_G->C 2 241904001 241904001 G C snp 617.77 1/1 45 24 0 24 1.0 ncRNA_intronic rs11688859 LOC200772 AU 0.673522 0.6587 0.5988 0.6338 -1.000 T Uncertain 2_241904473_G->A 2 241904473 241904473 G A snp 800.77 0/1 99 63 27 36 0.57 ncRNA_intronic rs10432570 LOC200772 AU 0.237021 0.3909 Uncertain 2_241904498_G->C 2 241904498 241904498 G C snp 696.77 0/1 99 53 24 29 0.55 ncRNA_intronic rs10432571 LOC200772 AU 0.35004 0.3909 Uncertain 2_241905779_A->G 2 241905779 241905779 A G snp 634.77 0/1 99 61 31 30 0.49 ncRNA_intronic rs12466789 LOC200772 AU 0.563099 0.506 Uncertain 2_241922430_T->C 2 241922430 241922430 T C snp 2737.77 1/1 99 103 0 103 1.0 intergenic rs4577273 LOC200772 AU 0.329872 0.376 0.2934 0.3984 0.24 T -0.940 T Uncertain 2_241925194_A->C 2 241925194 241925194 A C snp 178.9 1/1 15 5 0 5 1.0 intergenic rs4675837 LOC200772 AU 0.809305 0.9306 Uncertain 2_241925276_-->C 2 241925276 241925276 - C indel 1458.73 1/1 99 44 0 44 1.0 intergenic rs76360664 LOC200772 AU 0.120807 0.2857 0.1163 0.3229 Uncertain 2_241929228_A->G 2 241929228 241929228 A G snp 1532.77 1/1 99 53 0 53 1.0 intergenic rs10200024 LOC200772 AU 0.808506 0.9296 0.7131 0.9208 1 T -0.972 T Uncertain 2_241932399_C->G 2 241932399 241932399 C G snp 232.77 0/1 99 20 9 11 0.55 intergenic rs61308140 LOC200772 AU 0.155152 0.2778 Uncertain 2_241973977_A->G 2 241973977 241973977 A G snp 1626.77 0/1 99 118 43 75 0.64 intronic rs114985566 SNED1 AU NM_001080437 exon4 c.35730-7A>G 0.0555112 0.1002 0.032290 0.0467 0.1053 Uncertain 2_241974289_G->A 2 241974289 241974289 G A snp 272.8 1/1 21 10 0 10 1.0 intronic rs2074822 SNED1 AU NM_001080437 exon4 c.35893+142G>A 0.679712 0.6677 Uncertain 2_241988392_T->C 2 241988392 241988392 T C snp 1050.77 0/1 99 97 51 46 0.47 intronic rs16843211 SNED1 AU NM_001080437 exon11 c.50184-46T>C 0.102835 0.2232 0.002128 0.0551 0.2584 Uncertain 2_241991029_A->G 2 241991029 241991029 A G snp 900.77 1/1 66 29 0 29 1.0 intronic rs10206324 SNED1 AU NM_001080437 exon13 c.52906-131A>G 0.684305 0.7728 Uncertain 2_241991903_A->G 2 241991903 241991903 A G snp 831.77 1/1 66 25 0 25 1.0 intronic rs28529274 SNED1 AU NM_001080437 exon15 c.53631+18A>G 0.168331 0.2282 0.088752 0.0988 0.2906 Uncertain 2_242001991_A->G 2 242001991 242001991 A G snp 96.28 1/1 9 3 0 3 1.0 intronic rs10178146 SNED1 AU NM_001080437 exon17 c.63953-216A>G 0.685703 0.7758 Uncertain 2_242002263_C->T 2 242002263 242002263 C T snp 2816.77 0/1 99 238 117 121 0.51 exonic rs3732228 SNED1 AU synonymous SNV NM_001080437 exon17 c.C2313T p.R771R 0.048722 0.1171 0.020364 0.0508 0.1436 Uncertain 2_242002828_C->T 2 242002828 242002828 C T snp 3872.77 1/1 99 132 0 132 1.0 intronic rs7581709 SNED1 AU NM_001080437 exon18 c.64749-175C>T 0.69389 0.7718 Uncertain 2_242003558_T->C 2 242003558 242003558 T C snp 1360.77 1/1 99 51 0 51 1.0 intronic rs34771867 SNED1 AU NM_001080437 exon19 c.65288+16T>C 0.715256 0.7837 0.621042 0.6332 0.7804 Uncertain 2_242004052_C->T 2 242004052 242004052 C T snp 40.77 0/1 69 6 3 3 0.5 intronic rs80240070 SNED1 AU NM_001080437 exon20 c.66005-207C>T 0.0407348 0.0923 Uncertain 2_242004199_G->C 2 242004199 242004199 G C snp 2165.77 0/1 99 203 111 92 0.45 intronic rs2286319 SNED1 AU NM_001080437 exon20 c.66005-60G>C 0.653155 0.6558 Uncertain 2_242004219_-->G 2 242004219 242004219 - G indel 10019.7 1/1 99 240 0 240 1.0 intronic rs11464431 SNED1 AU NM_001080437 exon20 c.66005-40insG 1 1 0.999482 1.0000 1 Uncertain 2_242004570_C->T 2 242004570 242004570 C T snp 630.77 0/1 99 47 27 20 0.43 intronic rs2286320 SNED1 AU NM_001080437 exon21 c.66460-144C>T 0.170128 0.2044 Uncertain 2_242007033_A->G 2 242007033 242007033 A G snp 248.77 0/1 99 14 6 8 0.57 intronic rs79902683 SNED1 AU NM_001080437 exon22 c.68924-145A>G 0.0361422 0.1002 Uncertain 2_242007466_C->- 2 242007466 242007466 C - indel 247.73 0/1 99 19 10 9 0.47 intronic rs397988417 SNED1 AU NM_001080437 exon22 c.69108+104delC 0.373802 0.2748 Uncertain 2_242009260_C->G 2 242009260 242009260 C G snp 195.8 0/1 21 7 1 6 0.86 intronic rs10171936 SNED1 AU NM_001080437 exon24 c.71080-74C>G 0.205671 0.2401 Uncertain 2_242009649_C->G 2 242009649 242009649 C G snp 668.77 0/1 99 50 24 26 0.52 intronic rs10174683 SNED1 AU NM_001080437 exon24 c.71362+33C>G 0.203674 0.2401 0.096116 0.1042 0.2975 Uncertain 2_242011151_A->G 2 242011151 242011151 A G snp 1688.77 1/1 99 50 0 50 1.0 intronic rs6760731 SNED1 AU NM_001080437 exon25 c.72881+16A>G 0.999601 1 0.999571 0.9998 1 Uncertain 2_242011195_C->T 2 242011195 242011195 C T snp 1906.77 0/1 99 150 76 74 0.49 intronic rs75917496 SNED1 AU NM_001080437 exon26 c.72956-15C>T 0.0744808 0.1796 0.008956 0.0948 0.3063 Uncertain 2_242011330_C->A 2 242011330 242011330 C A snp 5895.77 1/1 99 214 1 213 1.0 intronic rs6746124 SNED1 AU NM_001080437 exon26 c.73039+37C>A 0.543331 0.5079 0.525717 0.5665 0.5820 Uncertain 2_242011531_G->A 2 242011531 242011531 G A snp 2105.77 0/1 99 148 70 78 0.53 intronic rs10204115 SNED1 AU NM_001080437 exon26 c.73039+238G>A 0.135184 0.1508 0.0475 0.1893 Uncertain 2_242021000_-->TCAGG 2 242021000 242021000 - TCAGG indel 4615.73 0/1 99 173 100 73 0.42 intronic rs140631844 SNED1 AU NM_001080437 exon28 c.82837-91insTCAGG 0.286741 0.4038 Uncertain 2_242021742_G->T 2 242021742 242021742 G T snp 1416.77 0/1 99 147 81 66 0.45 exonic rs2108485 SNED1 AU nonsynonymous SNV NM_001080437 exon29 c.G4084T p.A1362S 0.425719 0.5546 0.318291 0.2611 0.5707 1 T 0.000 P -0.921 T 0.001 T 0.001 T Pathogenic 2_242026608_A->G 2 242026608 242026608 A G snp 385.77 0/1 99 29 16 13 0.45 intronic rs4035 SNED1 AU NM_001080437 exon30 c.88552-198A>G 0.42492 0.5546 Uncertain 2_242027525_A->G 2 242027525 242027525 A G snp 107.78 0/1 25 5 1 4 0.8 intronic rs1804998 SNED1 AU NM_001080437 exon31 c.89525-254A>G 0.42492 0.5546 Uncertain 2_242027926_T->A 2 242027926 242027926 T A snp 321.77 0/1 99 31 20 11 0.35 intronic rs2067987 SNED1 AU NM_001080437 exon31 c.89563+109T>A 0.224241 0.3452 Uncertain 2_242028762_T->C 2 242028762 242028762 T C snp 1912.77 0/1 99 168 86 82 0.49 intronic rs2286322 SNED1 AU NM_001080437 exon31 c.89563+945T>C 0.0744808 0.2202 0.0334 0.2510 Uncertain 2_242033960_C->T 2 242033960 242033960 C T snp 428.77 0/1 99 26 10 16 0.62 downstream rs79500020 SNED1 AU 0.0744808 0.2202 Uncertain 2_242046151_G->A 2 242046151 242046151 G A snp 1062.77 0/1 99 86 44 42 0.49 intronic rs3732227 PASK AU NM_001252119 exon1 c.158+13G>A 0.209465 0.2192 0.143395 0.0916 0.2409 Uncertain 2_242046737_T->C 2 242046737 242046737 T C snp 685.77 0/1 99 72 39 33 0.46 intronic rs2240540 PASK AU NM_001252119 exon2 c.787-30T>C 0.322883 0.4286 0.229894 0.1901 0.4507 Uncertain 2_242046785_A->C 2 242046785 242046785 A C snp 987.77 0/1 99 104 59 45 0.43 exonic rs1131293 PASK AU nonsynonymous SNV NM_015148 exon17 c.T3797G p.F1266C 0.322883 0.4286 0.231201 0.1901 0.4511 0.58 T 0.000 P -0.929 T 0.0 T 0.0 T Pathogenic 2_242047017_G->A 2 242047017 242047017 G A snp 46.77 0/1 33 3 1 2 0.67 intronic rs10187107 PASK AU NM_001252119 exon2 c.934+103G>A 0.18151 0.2192 Uncertain 2_242047750_A->G 2 242047750 242047750 A G snp 860.77 0/1 99 80 46 34 0.42 intronic rs6708265 PASK AU NM_001252119 exon3 c.1735+35A>G 0.41893 0.5526 0.325619 0.2632 0.5721 Uncertain 2_242051777_G->A 2 242051777 242051777 G A snp 1234.77 0/1 99 103 45 58 0.56 exonic rs2074824 PASK AU synonymous SNV NM_015148 exon15 c.C3411T p.A1137A 0.322883 0.4286 0.231355 0.1901 0.4495 Uncertain 2_242054403_G->A 2 242054403 242054403 G A snp 934.77 0/1 99 68 33 35 0.51 intronic rs3815305 PASK AU NM_001252119 exon5 c.8456-33G>A 0.24361 0.4147 0.1659 0.4360 0 D 0.0 P -0.950 T 0.0 T 0.0 T Uncertain 2_242062162_C->T 2 242062162 242062162 C T snp 1698.77 0/1 99 181 105 76 0.42 exonic rs2302050 PASK AU synonymous SNV NM_015148 exon12 c.G3057A p.K1019K 0.294728 0.4405 0.197986 0.1756 0.4462 Uncertain 2_242063350_T->C 2 242063350 242063350 T C snp 296.77 0/1 99 20 8 12 0.6 intronic rs13385610 PASK AU NM_001252119 exon8 c.17383-13T>C 0.390575 0.5714 0.291173 0.2488 0.5773 Uncertain 2_242065498_A->G 2 242065498 242065498 A G snp 65.77 0/1 94 10 7 3 0.3 intronic rs740393 PASK AU NM_001252119 exon9 c.19630-112A>G 0.308706 0.3552 Uncertain 2_242066156_C->T 2 242066156 242066156 C T snp 1462.77 0/1 99 140 76 64 0.46 exonic rs2005771 PASK AU nonsynonymous SNV NM_015148 exon10 c.G2174A p.G725D 0.0770767 0.2312 0.002922 0.0480 0.2365 0.53 T 0.0 P -1.115 T 0.744 T 0.131 P Pathogenic 2_242066314_T->C 2 242066314 242066314 T C snp 1990.77 0/1 99 174 95 79 0.45 exonic rs2240542 PASK AU synonymous SNV NM_015148 exon10 c.A2016G p.A672A 0.428315 0.4077 0.395894 0.3462 0.3979 Uncertain 2_242066789_A->G 2 242066789 242066789 A G snp 2129.77 0/1 99 246 151 95 0.39 exonic rs2240543 PASK AU nonsynonymous SNV NM_015148 exon10 c.T1541C p.L514S 0.076877 0.2312 0.003076 0.0480 0.2377 0.42 T 0.0 P -1.121 T 0.013 T 0.01 T Pathogenic 2_242075192_A->G 2 242075192 242075192 A G snp 134.03 1/1 12 4 0 4 1.0 intronic rs2108484 PASK AU NM_001252119 exon11 c.29305-93A>G 0.620008 0.9097 Uncertain 2_242077496_C->T 2 242077496 242077496 C T snp 1773.77 0/1 99 154 74 80 0.52 exonic rs1470414 PASK AU nonsynonymous SNV NM_015148 exon6 c.G748A p.V250I 0.222444 0.1716 0.293403 0.3168 0.1729 1 T 0.0 P -1.043 T 0.001 T 0.003 T Pathogenic 2_242079233_T->C 2 242079233 242079233 T C snp 547.77 1/1 42 15 0 15 1.0 intronic rs10933531 PASK AU NM_001252119 exon15 c.33319-66T>C 0.620208 0.9097 Uncertain 2_242079608_TGCAGTGGCGCAATCAGAGCTCAC->- 2 242079608 242079631 TGCAGTGGCGCAATCAGAGCTCAC - indel 145.73 0/1 99 15 3 12 0.8 intronic rs34496696 PASK AU NM_001252119 exon15 c.33490+138_33490+161delTGCAGTGGCGCAATCAGAGCTCAC Uncertain 2_242082262_T->C 2 242082262 242082262 T C snp 528.77 1/1 39 17 0 17 1.0 exonic rs6709462 PASK AU synonymous SNV NM_015148 exon2 c.A186G p.T62T 0.597644 0.9097 0.456866 0.5349 0.8934 0 D 0.0 P -0.979 T 0.0 T 0.0 T Likely benign 2_242082597_C->T 2 242082597 242082597 C T snp 111.77 0/1 66 6 2 4 0.67 intronic rs4675829 PASK AU NM_001252119 exon17 c.36509+108C>T 0.148363 0.4772 Uncertain 2_242088921_A->C 2 242088921 242088921 A C snp 1104.77 1/1 81 35 0 35 1.0 upstream rs3806599 PASK AU 0.792931 0.9276 Uncertain 2_242089029_C->A 2 242089029 242089029 C A snp 798.77 0/1 99 112 76 36 0.32 UTR5 rs36123792 PPP1R7 AU 0.033746 0.0982 Uncertain 2_242089110_C->A 2 242089110 242089110 C A snp 949.77 0/1 99 107 60 47 0.44 UTR5 rs3806600 PPP1R7 AU 0.0323482 0.0982 0.0250 0.1493 Uncertain 2_242091135_G->A 2 242091135 242091135 G A snp 183.77 0/1 99 17 10 7 0.41 intronic rs35157723 PPP1R7 AU NM_001282410 exon1 c.52+1173G>A 0.0277556 0.0952 Uncertain 2_242092737_T->C 2 242092737 242092737 T C snp 140.77 0/1 99 15 10 5 0.33 intronic rs147898268 PPP1R7 AU NM_001282410 exon2 c.2980-153T>C 0.0325479 0.0982 Uncertain 2_242098043_G->- 2 242098043 242098043 G - indel 1230.73 0/1 99 63 30 33 0.52 intronic rs138341087 PPP1R7 AU NM_001282410 exon4 c.8054+79delG 0.0325479 0.0982 Uncertain 2_242099961_C->T 2 242099961 242099961 C T snp 2241.77 1/1 99 83 0 83 1.0 intronic rs2017989 PPP1R7 AU NM_001282410 exon6 c.9999+52C>T 0.99381 1 0.979098 0.9865 1 Uncertain 2_242100081_A->G 2 242100081 242100081 A G snp 40.77 0/1 33 3 1 2 0.67 intronic rs16843395 PPP1R7 AU NM_001282410 exon6 c.9999+172A>G 0.151158 0.495 Uncertain 2_242102922_G->A 2 242102922 242102922 G A snp 105.77 0/1 99 12 8 4 0.33 intronic rs78771991 PPP1R7 AU NM_001282410 exon7 c.12906+106G>A 0.0321486 0.0982 Uncertain 2_242106729_C->T 2 242106729 242106729 C T snp 40.77 0/1 33 3 1 2 0.67 intronic rs74374443 PPP1R7 AU NM_001282410 exon9 c.16682+137C>T 0.0319489 0.0972 Uncertain 2_242129515_G->A 2 242129515 242129515 G A snp 1117.77 0/1 99 103 52 51 0.5 exonic rs2302054 ANO7 AU nonsynonymous SNV NM_001001891 exon2 c.G199A p.V67I 0.157748 0.4772 0.011558 0.1329 0.5380 0.59 T 0.0 P -0.958 T 0.708 T 0.059 P Pathogenic 2_242135017_A->C 2 242135017 242135017 A C snp 188.77 0/1 99 23 16 7 0.3 intronic rs12694996 ANO7 AU NM_001001891 exon4 c.7091-100A>C 0.689696 0.4345 Uncertain 2_242140634_CAGCTTCCTCCAAACCTTCTGCACCGTTCACATGCCCA->- 2 242140634 242140671 CAGCTTCCTCCAAACCTTCTGCACCGTTCACATGCCCA - indel 14732.7 0/1 99 249 95 154 0.62 intronic ANO7 AU NM_001001891 exon7 c.12686-78_12686-41delCAGCTTCCTCCAAACCTTCTGCACCGTTCACATGCCCA ID=COSN168958,COSN168959;OCCURENCE=2(large_intestine) Likely pathogenic 2_242142737_T->C 2 242142737 242142737 T C snp 915.77 1/1 66 31 0 31 1.0 intronic rs1179530 ANO7 AU NM_001001891 exon9 c.14721-10T>C 1 1 0.999690 0.9998 1 Uncertain 2_242144095_A->T 2 242144095 242144095 A T snp 212.77 0/1 99 16 9 7 0.44 intronic rs115587156 ANO7 AU NM_001001891 exon10 c.16253-184A>T 0.0383387 0.123 Uncertain 2_242149057_G->A 2 242149057 242149057 G A snp 101.28 1/1 9 4 0 4 1.0 intronic rs187802846 ANO7 AU NM_001001891 exon13 c.21024+7G>A 0.00119808 0.005 0.0005 0.0066 Uncertain 2_242168924_G->A 2 242168924 242168924 G A snp 137.77 0/1 99 13 7 6 0.46 UTR3 rs2305069 HDLBP AU 0.0213658 0.0933 ID=COSN166453;OCCURENCE=1(haematopoietic_and_lymphoid_tissue) Uncertain 2_242168976_T->C 2 242168976 242168976 T C snp 482.77 0/1 99 51 34 17 0.33 UTR3 rs15129 HDLBP AU 0.368211 0.745 0.191249 0.3020 0.7586 Uncertain 2_242178914_T->A 2 242178914 242178914 T A snp 65.77 0/1 94 9 6 3 0.33 intronic rs79098018 HDLBP AU NM_005336 exon10 c.10001-102T>A 0.00638978 0.0218 Uncertain 2_242203916_A->C 2 242203916 242203916 A C snp 1194.77 1/1 84 46 0 46 1.0 exonic rs11891776 HDLBP AU nonsynonymous SNV NM_005336 exon4 c.T181G p.S61A 0.999601 1 0.9998 0.9994 1 T 0.000 P -0.920 T 0.0 T 0.0 T Pathogenic 2_242206956_C->T 2 242206956 242206956 C T snp 5895.77 1/1 99 220 0 220 1.0 intronic rs35334418 HDLBP AU NM_001243900 exon26 c.37977-36C>T 0.951677 0.999 0.8799 0.9924 Uncertain 2_242263757_A->G 2 242263757 242263757 A G snp 189.77 0/1 99 23 15 8 0.35 intronic rs141070143 SEPT2 AU NM_006155 exon2 c.9+101A>G 0.00738818 0.0248 Uncertain 2_242285517_T->C 2 242285517 242285517 T C snp 424.77 0/1 99 36 16 20 0.56 intronic rs74627104 SEPT2 AU NM_006155 exon10 c.21933-63T>C 0.00678914 0.0218 Uncertain 2_242381167_G->A 2 242381167 242381167 G A snp 1413.77 0/1 99 116 58 58 0.5 intronic rs754118668 FARP2 AU NM_014808 exon13 c.68449+196G>A 0 0 Uncertain 2_242433348_A->G 2 242433348 242433348 A G snp 477.77 0/1 99 46 28 18 0.39 intronic rs2018761 FARP2 AU NM_014808 exon27 c.120900-74A>G 0.816693 0.9435 Uncertain 2_242439988_A->G 2 242439988 242439988 A G snp 33.77 0/1 62 8 5 3 0.38 intronic rs34506685 STK25 AU NM_006374 exon9 c.5078-166A>G 0.274161 0.5942 Uncertain 2_242443377_G->A 2 242443377 242443377 G A snp 1298.77 0/1 99 117 64 53 0.45 intronic rs35172632 STK25 AU NM_006374 exon10 c.6047+2254G>A 0.272564 0.5833 Uncertain 2_242511547_T->C 2 242511547 242511547 T C snp 389.77 1/1 30 10 0 10 1.0 intronic rs6757912 BOK AU NM_032515 exon5 c.12813-164T>C 0.485423 0.6954 Uncertain 2_242542298_T->C 2 242542298 242542298 T C snp 358.77 0/1 99 17 6 11 0.65 intronic rs6437269 THAP4 AU NM_015963 exon3 c.18364-86T>C 0.398163 0.4306 Uncertain 2_242556732_G->A 2 242556732 242556732 G A snp 254.77 0/1 99 39 29 10 0.26 intronic rs7580021 THAP4 AU NM_001164356 exon5 c.32806-94G>A 0.396366 0.4216 Uncertain 2_242557019_G->A 2 242557019 242557019 G A snp 864.77 0/1 99 81 44 37 0.46 intronic rs7580246 THAP4 AU NM_001164356 exon5 c.32896+103G>A 0.396366 0.4216 Uncertain 2_242572846_A->G 2 242572846 242572846 A G snp 2360.77 0/1 99 223 118 105 0.47 exonic rs3208142 THAP4 AU synonymous SNV NM_015963 exon2 c.T726C p.S242S 0.428115 0.5665 0.324973 0.3411 0.5725 Uncertain 2_242573211_T->C 2 242573211 242573211 T C snp 1648.77 0/1 99 128 61 67 0.52 exonic rs7424328 THAP4 AU nonsynonymous SNV NM_015963 exon2 c.A361G p.S121G 0.610024 0.8889 0.470765 0.5362 0.8975 0.68 T 0.000 P -0.992 T 0.0 T 0.0 T Pathogenic 2_242590237_T->C 2 242590237 242590237 T C snp 343.78 1/1 27 11 0 11 1.0 intronic rs4464318 ATG4B AU NM_178326 exon2 c.13295-187T>C 0.671526 0.876 Uncertain 2_242593835_AAAAAAA->- 2 242593835 242593841 AAAAAAA - indel 896.73 0/1 99 19 7 12 0.63 intronic rs201525288 ATG4B AU NM_178326 exon5 c.16831-125_16831-119delAAAAAAA Uncertain 2_242594510_T->C 2 242594510 242594510 T C snp 44.74 1/1 6 2 0 2 1.0 intronic rs146085946 ATG4B AU NM_178326 exon6 c.17556-175T>C 0.14357 0.2688 Uncertain 2_242598418_G->A 2 242598418 242598418 G A snp 201.8 0/1 21 7 1 6 0.86 intronic rs62190280 ATG4B AU NM_178326 exon7 c.21393-104G>A 0.225839 0.3512 Uncertain 2_242606036_G->C 2 242606036 242606036 G C snp 3119.77 0/1 99 249 112 137 0.55 intronic rs6709768 ATG4B AU NM_178326 exon8 c.28930-23G>C 0.338658 0.1984 0.390474 0.4193 0.2478 0.02 T 0.0 P -0.997 T Uncertain 2_242607483_G->T 2 242607483 242607483 G T snp 505.77 0/1 99 31 15 16 0.52 intronic rs7565540 ATG4B AU NM_178326 exon9 c.30428-74G>T 0.339058 0.1984 Uncertain 2_242607484_C->T 2 242607484 242607484 C T snp 511.77 0/1 99 31 15 16 0.52 intronic rs7592829 ATG4B AU NM_178326 exon9 c.30428-73C>T 0.339058 0.1984 Uncertain 2_242610172_A->G 2 242610172 242610172 A G snp 1073.77 0/1 99 85 44 41 0.48 exonic rs138274580 ATG4B AU nonsynonymous SNV NM_013325 exon11 c.A989G p.N330S 0.0780751 0.0675 0.052428 0.0472 0.0954 0.23 T 0.0 P -1.086 T 0.352 T 0.096 T ID=COSM3766562,COSM3766561;OCCURENCE=1(liver) Pathogenic 2_242610773_T->A 2 242610773 242610773 T A snp 5535.77 1/1 99 195 0 195 1.0 exonic rs7601000 ATG4B AU nonsynonymous SNV NM_013325 exon12 c.T1061A p.L354Q 0.879393 0.8651 0.834614 0.8153 0.8446 0.64 T 0.064 P -1.002 T 0.001 T 0.0 T Pathogenic 2_242611050_C->G 2 242611050 242611050 C G snp 649.77 0/1 99 48 26 22 0.46 intronic rs1130910 ATG4B AU NM_178326 exon12 c.33711+210C>G 0.339856 0.1994 Uncertain 2_242612909_A->G 2 242612909 242612909 A G snp 50.74 1/1 6 2 0 2 1.0 UTR3 rs1130906 ATG4B AU 0.615216 0.5218 Uncertain 2_242615462_T->C 2 242615462 242615462 T C snp 116.77 0/1 99 13 8 5 0.38 UTR3 rs5860 DTYMK AU 0.544728 0.494 Uncertain 2_242617792_A->G 2 242617792 242617792 A G snp 347.77 0/1 99 19 7 12 0.63 intronic rs4076640 DTYMK AU NM_012145 exon2 c.2325-74A>G 0.544529 0.4921 Uncertain 2_242618050_A->G 2 242618050 242618050 A G snp 1912.77 0/1 99 150 68 82 0.55 exonic rs1131195 DTYMK AU synonymous SNV NM_012145 exon4 c.T345C p.D115D 0.340056 0.1994 0.397600 0.3753 0.2093 1.000 P -0.938 T Likely benign 2_242622326_T->C 2 242622326 242622326 T C snp 203.77 0/1 99 22 10 12 0.55 intronic rs4347866 DTYMK AU NM_012145 exon3 c.4193+2592T>C 0.344649 0.2044 0.6087 0.5 Uncertain 2_242625935_G->C 2 242625935 242625935 G C snp 56.74 1/1 6 2 0 2 1.0 intronic rs7370850 DTYMK AU NM_012145 exon5 c.10527-133G>C 0.594848 0.5079 Uncertain 2_242625938_A->C 2 242625938 242625938 A C snp 56.74 1/1 6 2 0 2 1.0 intronic rs111965544 DTYMK AU NM_012145 exon5 c.10527-130A>C 0.161142 0.3016 Uncertain 2_242641566_C->T 2 242641566 242641566 C T snp 1462.77 0/1 99 124 57 67 0.54 intronic rs111766881 ING5 AU NM_032329 exon1 c.37+49C>T 0.188698 0.4097 0.2296 0.5405 Uncertain 2_242643998_G->A 2 242643998 242643998 G A snp 584.77 0/1 99 50 25 25 0.5 intronic rs35512800 ING5 AU NM_032329 exon2 c.2587-69G>A 0.289337 0.4256 Uncertain 2_242644173_A->G 2 242644173 242644173 A G snp 1093.77 0/1 99 82 39 43 0.52 intronic rs4675889 ING5 AU NM_032329 exon2 c.2659+34A>G 0.1877 0.4067 0.097400 0.1715 0.4285 Uncertain 2_242648546_G->A 2 242648546 242648546 G A snp 1500.77 0/1 99 99 47 52 0.53 intronic rs112552017 ING5 AU NM_032329 exon3 c.7150-84G>A 0.095647 0.2946 Uncertain 2_242651595_C->T 2 242651595 242651595 C T snp 736.77 0/1 99 57 31 26 0.46 intronic rs7587136 ING5 AU NM_032329 exon5 c.10006+109C>T 0.103634 0.2897 Uncertain 2_242658779_A->T 2 242658779 242658779 A T snp 404.77 0/1 99 26 11 15 0.58 intronic rs71351113 ING5 AU NM_032329 exon6 c.20873-3574A>T 0.375799 0.3919 Uncertain 2_242662761_T->C 2 242662761 242662761 T C snp 1540.77 1/1 99 51 0 51 1.0 intronic rs7572153 ING5 AU NM_032329 exon7 c.21206+75T>C 0.750799 0.8125 Uncertain 2_242674959_T->G 2 242674959 242674959 T G snp 2249.77 1/1 99 78 0 78 1.0 intronic rs62191977 D2HGDH AR NM_152783 exon2 c.292+28T>G 0.742412 0.6815 0.726715 0.6843 0.7297 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000145796.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 2_242680366_A->G 2 242680366 242680366 A G snp 677.77 0/1 99 65 36 29 0.45 intronic rs4073890 D2HGDH AR NM_152783 exon3 c.5808-81A>G 0.566893 0.375 Uncertain 2_242680430_A->G 2 242680430 242680430 A G snp 1517.77 0/1 99 116 51 65 0.56 intronic rs4073889 D2HGDH AR NM_152783 exon3 c.5808-17A>G 0.564696 0.377 0.564856 0.4934 0.3690 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000145798.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 2_242684115_T->C 2 242684115 242684115 T C snp 1052.77 0/1 99 96 56 40 0.42 intronic rs4234097 D2HGDH AR NM_152783 exon6 c.9484-8T>C 0.561102 0.3651 0.559317 0.4884 0.3627 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000145804.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 2_242684387_-->C 2 242684387 242684387 - C indel 508.73 1/1 77 44 1 43 0.98 intronic rs368566208 D2HGDH AR NM_152783 exon6 c.9653+95insC Uncertain 2_242684394_G->C 2 242684394 242684394 G C snp 1314.77 1/1 96 37 0 37 1.0 intronic rs4675884 D2HGDH AR NM_152783 exon6 c.9653+102G>C 0.960463 0.997 Uncertain 2_242688203_C->T 2 242688203 242688203 C T snp 2523.77 0/1 99 215 106 109 0.51 intronic rs34519321 D2HGDH AR NM_152783 exon7 c.14926-1362C>T 0.555911 0.3641 0.4947 0.3495 Uncertain 2_242688292_C->T 2 242688292 242688292 C T snp 2730.77 0/1 99 245 124 121 0.49 intronic rs34767042 D2HGDH AR NM_152783 exon7 c.14926-1273C>T 0.555911 0.3641 0.4997 0.3444 0.04 T 0.0 P -0.976 T Uncertain 2_242688366_C->T 2 242688366 242688366 C T snp 1578.77 0/1 99 126 62 64 0.51 intronic rs35386923 D2HGDH AR NM_152783 exon7 c.14926-1199C>T 0.533946 0.3641 0.5150 0.3575 0.02 T 0.001 P Uncertain 2_242688434_T->C 2 242688434 242688434 T C snp 438.77 0/1 99 28 13 15 0.54 intronic rs34077392 D2HGDH AR NM_152783 exon7 c.14926-1131T>C 0.459465 0.3472 0.4569 0.3345 Uncertain 2_242688442_-->C 2 242688442 242688442 - C indel 294.73 0/1 99 23 9 14 0.61 intronic rs35249772 D2HGDH AR NM_152783 exon7 c.14926-1123insC 0.459465 0.3472 0.4424 0.3276 Uncertain 2_242688672_C->T 2 242688672 242688672 C T snp 1469.77 0/1 99 136 74 62 0.46 intronic rs78280775 D2HGDH AR NM_152783 exon7 c.14926-893C>T 0.555911 0.3631 0.5026 0.3125 Uncertain 2_242688870_T->C 2 242688870 242688870 T C snp 1878.77 0/1 99 160 78 82 0.51 intronic rs113047262 D2HGDH AR NM_152783 exon7 c.14926-695T>C 0.555911 0.3631 Uncertain 2_242690528_C->T 2 242690528 242690528 C T snp 1132.77 0/1 99 69 27 42 0.61 intronic rs146473617 D2HGDH AR NM_152783 exon8 c.16021-132C>T 0.0567093 0.1518 Uncertain 2_242690745_C->T 2 242690745 242690745 C T snp 1507.77 0/1 99 114 54 60 0.53 exonic rs1105273 D2HGDH AR nonsynonymous SNV NM_152783 exon8 c.C1082T p.A361V 0.215256 0.2242 0.160025 0.1559 0.2226 1 T 0.950 P -1.056 T 0.007 T 0.01 T CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000145787.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 2_242694399_C->G 2 242694399 242694399 C G snp 3607.77 0/1 99 250 118 132 0.53 intronic rs112802682 D2HGDH AR NM_152783 exon9 c.20624-864C>G 0.160743 0.2113 0.1221 0.2059 Uncertain 2_242694582_C->A 2 242694582 242694582 C A snp 3037.77 0/1 99 226 108 118 0.52 intronic rs148578716 D2HGDH AR NM_152783 exon9 c.20624-681C>A 0.0535144 0.1359 0.0395 0.1173 0 D 1.000 P -1.028 T Uncertain 2_242694897_G->T 2 242694897 242694897 G T snp 1913.77 0/1 99 210 124 86 0.41 intronic rs143691147 D2HGDH AR NM_152783 exon9 c.20624-366G>T 0.0513179 0.1369 0.0356 0.1255 0 D 0.000 P -1.022 T Uncertain 2_242706988_C->T 2 242706988 242706988 C T snp 35.77 0/1 64 7 5 2 0.29 intronic rs76180615 D2HGDH AR NM_152783 exon10 c.32485-136C>T 0.190695 0.2897 Uncertain 2_242707101_A->G 2 242707101 242707101 A G snp 760.77 0/1 99 89 54 35 0.39 intronic rs6756901 D2HGDH AR NM_152783 exon10 c.32485-23A>G 0.629992 0.6181 0.617511 0.5294 0.5855 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000145792.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 2_242716380_A->T 2 242716380 242716380 A T snp 2079.77 0/1 99 195 103 92 0.47 exonic rs12469459 GAL3ST2 AU nonsynonymous SNV NM_022134 exon1 c.A10T p.M4L 0.370407 0.3978 0.361504 0.3455 0.4218 1 T 0.0 P -0.929 T 0.0 T 0.0 T Pathogenic 2_242716387_G->A 2 242716387 242716387 G A snp 2183.77 0/1 99 207 111 96 0.46 exonic rs117755329 GAL3ST2 AU nonsynonymous SNV NM_022134 exon1 c.G17A p.G6D 0.00738818 0.0317 0.000077 0.0039 0.0446 0.04 T 1 N -1.041 T 0.976 D 0.721 D Pathogenic 2_242750460_T->C 2 242750460 242750460 T C snp 5154.77 1/1 99 188 1 187 0.99 intronic rs34748986 NEU4 AU 0.852037 0.9821 Uncertain 2_242752307_A->C 2 242752307 242752307 A C snp 180.9 1/1 15 5 0 5 1.0 UTR5 rs3749157 NEU4 AU 0.608826 0.876 Uncertain 2_242755016_G->C 2 242755016 242755016 G C snp 50.74 1/1 6 3 0 3 1.0 intronic rs112730878 NEU4 AU NM_001167599 exon2 c.3152-659G>C 0.320288 0.4147 Uncertain 2_242755374_C->G 2 242755374 242755374 C G snp 690.77 0/1 99 54 25 29 0.54 intronic rs4675992 NEU4 AU NM_001167599 exon2 c.3152-301C>G 0.134585 0.4504 0.0568 0.4234 0.01 T 0.0 P -0.940 T Uncertain 2_242755599_G->A 2 242755599 242755599 G A snp 510.77 0/1 99 65 39 26 0.4 intronic rs66482163 NEU4 AU NM_001167599 exon2 c.3152-76G>A 0.427516 0.4187 Uncertain 2_242756634_A->G 2 242756634 242756634 A G snp 44.77 0/1 33 3 1 2 0.67 intronic rs372713019 NEU4 AU NM_080741 exon3 c.3821+290A>G Uncertain 2_242757334_G->A 2 242757334 242757334 G A snp 268.77 0/1 99 16 6 10 0.63 intronic rs3749152 NEU4 AU NM_080741 exon4 c.4853-42G>A 0.153155 0.2034 0.073006 0.1328 0.2681 Uncertain 2_242758179_C->T 2 242758179 242758179 C T snp 1214.77 0/1 99 138 83 55 0.4 exonic rs2293764 NEU4 AU synonymous SNV NM_001167599 exon4 c.C1299T p.S433S 0.215855 0.1994 0.158176 0.1713 0.2119 Uncertain 2_242758203_T->C 2 242758203 242758203 T C snp 1568.77 0/1 99 152 85 67 0.44 exonic rs2293763 NEU4 AU synonymous SNV NM_001167599 exon4 c.T1323C p.A441A 0.445088 0.4187 0.355118 0.4127 0.4059 Uncertain 2_242758326_G->A 2 242758326 242758326 G A snp 1193.77 0/1 99 107 51 56 0.52 exonic rs2293761 NEU4 AU synonymous SNV NM_001167599 exon4 c.G1446A p.K482K 0.444089 0.4216 0.352976 0.4267 0.4320 Uncertain 2_242758475_A->G 2 242758475 242758475 A G snp 678.77 1/1 51 23 0 23 1.0 UTR3 rs2293759 NEU4 AU 0.582468 0.872 Uncertain 2_242793273_A->G 2 242793273 242793273 A G snp 1043.77 0/1 99 92 45 47 0.51 exonic rs2227981 PDCD1 AU,AO synonymous SNV NM_005018 exon5 c.T804C p.A268A 0.647963 0.7321 0.586358 0.6284 0.7245 Uncertain 2_242793433_G->A 2 242793433 242793433 G A snp 2159.77 0/1 99 195 94 101 0.52 exonic rs2227982 PDCD1 AU,AO nonsynonymous SNV NM_005018 exon5 c.C644T p.A215V 0.136781 0.4454 0.012456 0.0827 0.4873 0.02 T 0.0 P -0.921 T 0.816 T 0.261 P Pathogenic 2_242793559_T->C 2 242793559 242793559 T C snp 599.77 0/1 99 31 12 19 0.61 intronic rs6705653 PDCD1 AU,AO NM_005018 exon1 c.240+110T>C 0.648163 0.7321 Uncertain 2_242794620_C->T 2 242794620 242794620 C T snp 187.77 0/1 99 11 5 6 0.55 intronic rs34819629 PDCD1 AU,AO NM_005018 exon3 c.1296+115C>T 0.135783 0.4444 Uncertain 2_242800789_C->G 2 242800789 242800789 C G snp 141.77 0/1 66 8 3 5 0.63 intronic rs56211622 PDCD1 AU,AO NM_005018 exon5 c.7705-125C>G 0.152756 0.4722 Uncertain 2_242800900_G->A 2 242800900 242800900 G A snp 707.77 0/1 99 53 23 30 0.57 intronic rs35933396 PDCD1 AU,AO NM_005018 exon5 c.7705-14G>A 0.152157 0.4722 0.023677 0.1509 0.5951 Uncertain 2_242811866_G->C 2 242811866 242811866 G C snp 166.77 0/1 99 25 17 8 0.32 upstream rs75506522 RTP5 AU 0.147963 0.4683 0.008801 0.0617 0.4484 Uncertain 2_242812080_T->C 2 242812080 242812080 T C snp 1078.77 0/1 99 102 54 48 0.47 intronic rs4973697 RTP5 AU NM_173821 exon1 c.158+14T>C 0.297724 0.6081 0.138521 0.2397 0.6452 Uncertain 2_242813124_T->C 2 242813124 242813124 T C snp 3109.77 1/1 99 121 0 121 1.0 intronic rs13016102 RTP5 AU NM_173821 exon2 c.1957-741T>C 0.989617 1 0.9971 1 Uncertain 2_242813202_G->A 2 242813202 242813202 G A snp 943.77 0/1 99 79 37 42 0.53 intronic rs28512331 RTP5 AU NM_173821 exon2 c.1957-663G>A 0.247604 0.6042 Uncertain 2_242813205_A->G 2 242813205 242813205 A G snp 768.77 0/1 99 71 33 38 0.54 intronic rs28380696 RTP5 AU NM_173821 exon2 c.1957-660A>G 0.338259 0.6042 Uncertain 2_242813241_C->T 2 242813241 242813241 C T snp 1032.77 1/1 78 35 0 35 1.0 intronic rs28392509 RTP5 AU NM_173821 exon2 c.1957-624C>T 0.82528 0.9415 Uncertain 2_242813299_T->C 2 242813299 242813299 T C snp 135.03 1/1 12 4 0 4 1.0 intronic rs28682292 RTP5 AU NM_173821 exon2 c.1957-566T>C 0.393171 0.6498 Uncertain 2_242813859_G->C 2 242813859 242813859 G C snp 476.77 0/1 99 51 33 18 0.35 intronic rs77913832 RTP5 AU NM_173821 exon2 c.1957-6G>C 0.141174 0.4484 0.010349 0.1105 0.4890 Uncertain 2_242814283_C->T 2 242814283 242814283 C T snp 1274.77 0/1 99 112 55 57 0.51 exonic rs28499542 RTP5 AU synonymous SNV NM_173821 exon2 c.C576T p.G192G 0.271565 0.6032 0.120330 0.1853 0.6244 Uncertain 2_242814360_T->C 2 242814360 242814360 T C snp 1584.77 0/1 99 124 58 66 0.53 exonic rs28378061 RTP5 AU nonsynonymous SNV NM_173821 exon2 c.T653C p.I218T 0.271965 0.6032 0.117690 0.1772 0.6192 0.2 T 0.0 P -0.987 T 0.388 T 0.206 T Pathogenic 2_242814463_A->T 2 242814463 242814463 A T snp 1271.77 0/1 99 122 71 51 0.42 exonic rs28523279 RTP5 AU synonymous SNV NM_173821 exon2 c.A756T p.S252S 0.311901 0.6012 0.159677 0.1888 0.6185 Uncertain 2_242814639_T->C 2 242814639 242814639 T C snp 2119.77 0/1 99 186 110 76 0.41 exonic rs75447317 RTP5 AU nonsynonymous SNV NM_173821 exon2 c.T932C p.L311P 0.14357 0.4623 0.011239 0.0874 0.4881 0.24 T 0.0 P -0.927 T 0.797 T 0.233 P Pathogenic 2_242815059_C->T 2 242815059 242815059 C T snp 2828.77 0/1 99 219 103 116 0.53 exonic rs28368764 RTP5 AU nonsynonymous SNV NM_173821 exon2 c.C1352T p.A451V 0.14976 0.4901 0.013414 0.0884 0.5114 0.14 T 0.0 P -0.934 T 0.991 D 0.544 D Pathogenic 2_242836535_A->G 2 242836535 242836535 A G snp 3680.77 1/1 99 129 0 129 1.0 ncRNA_intronic rs28559662 LINC01237 AU 0.407149 0.6032 0.3414 0.6167 Uncertain 2_242839363_G->C 2 242839363 242839363 G C snp 1762.77 0/1 99 164 88 76 0.46 ncRNA_intronic rs4973668 LINC01237 AU 0.600439 0.8016 0.5350 0.798 -1.016 T Uncertain 2_242839614_T->G 2 242839614 242839614 T G snp 1312.77 1/1 96 36 0 36 1.0 ncRNA_intronic rs13025557 LINC01237 AU 0.828075 0.9425 Uncertain 2_242841103_C->T 2 242841103 242841103 C T snp 437.77 0/1 99 38 20 18 0.47 ncRNA_intronic rs4973667 LINC01237 AU 0.144169 0.4623 Uncertain 3_239313_-->G 3 239313 239313 - G indel 2085.73 1/1 99 71 1 70 0.99 intronic rs35603824 CHL1 AU 0.4863 0.7857 Uncertain 3_361508_C->T 3 361508 361508 C T snp 848.77 0/1 99 85 48 37 0.44 exonic rs2272522 CHL1 AU nonsynonymous SNV NM_006614 exon3 c.C49T p.L17F 0.352037 0.3085 0.308982 0.2697 0.3395 1 T 0.0 P -0.975 T 0.001 T 0.003 T ID=CM023348;DIS=Schizophrenia, association with;TAG=DP;PUB=11986985 DP Pathogenic 3_386520_C->T 3 386520 386520 C T snp 136.77 0/1 99 19 12 7 0.37 intronic rs1499046 CHL1 AU NM_006614 exon9 c.24933+128C>T 0.522165 0.6369 Uncertain 3_391100_A->G 3 391100 391100 A G snp 4169.77 1/1 99 147 0 147 1.0 exonic rs13060847 CHL1 AU nonsynonymous SNV NM_006614 exon10 c.A907G p.T303A 0.851038 1 0.837690 0.9546 1 0.56 T 0.000 P -0.915 T 0.095 T 0.105 T Pathogenic 3_403288_G->A 3 403288 403288 G A snp 1196.77 1/1 87 36 0 36 1.0 intronic rs9824311 CHL1 AU NM_006614 exon13 c.41922-93G>A 0.554912 0.6329 Uncertain 3_403297_C->A 3 403297 403297 C A snp 1347.77 1/1 99 41 0 41 1.0 intronic rs9839027 CHL1 AU NM_006614 exon13 c.41922-84C>A 0.557907 0.6329 Uncertain 3_403308_G->A 3 403308 403308 G A snp 1649.77 1/1 99 51 0 51 1.0 intronic rs9824442 CHL1 AU NM_006614 exon13 c.41922-73G>A 0.557308 0.6329 Uncertain 3_403345_A->G 3 403345 403345 A G snp 3084.77 1/1 99 101 0 101 1.0 intronic rs9846775 CHL1 AU NM_006614 exon13 c.41922-36A>G 0.972244 1 0.966631 0.9910 0.9998 Uncertain 3_404771_C->T 3 404771 404771 C T snp 1049.77 1/1 78 30 0 30 1.0 intronic rs4684390 CHL1 AU NM_006614 exon14 c.43440-128C>T 0.882987 1 Uncertain 3_417994_A->G 3 417994 417994 A G snp 2433.77 1/1 99 77 0 77 1.0 ncRNA_intronic rs930237 CHL1-AS1 AU 0.85004 0.996 Uncertain 3_439963_A->G 3 439963 439963 A G snp 5144.77 1/1 99 186 0 186 1.0 exonic rs6442827 CHL1 AU nonsynonymous SNV NM_006614 exon25 c.A3148G p.I1050V 0.958466 1 0.960787 0.9883 1 0.88 T 0.000 P -0.995 T 0.001 T 0.003 T Pathogenic 3_440028_T->C 3 440028 440028 T C snp 4537.77 1/1 99 166 0 166 1.0 exonic rs6771714 CHL1 AU synonymous SNV NM_006614 exon25 c.T3213C p.N1071N 0.96885 1 0.972167 0.9917 1 Uncertain 3_440088_T->A 3 440088 440088 T A snp 2613.77 1/1 99 87 0 87 1.0 intronic rs6771803 CHL1 AU NM_006614 exon25 c.78609+20T>A 0.96905 1 0.972167 0.9917 1 Uncertain 3_440946_G->A 3 440946 440946 G A snp 174.9 1/1 15 5 0 5 1.0 intronic rs2387184 CHL1 AU NM_006614 exon26 c.79372+115G>A 0.972045 1 Uncertain 3_447069_C->T 3 447069 447069 C T snp 441.77 1/1 33 13 0 13 1.0 intronic rs11705894 CHL1 AU NM_006614 exon28 c.85718-108C>T 0.886382 0.998 Uncertain 3_1215013_A->C 3 1215013 1215013 A C snp 1989.77 0/1 99 160 72 88 0.55 intronic rs7632166 CNTN6 AU NM_014461 exon2 c.55+25266A>C 0.60603 0.6935 0.5163 0.6789 Uncertain 3_1215083_C->A 3 1215083 1215083 C A snp 1011.77 0/1 99 77 39 38 0.49 intronic rs13077503 CNTN6 AU NM_014461 exon2 c.55+25336C>A 0.483027 0.6815 Uncertain 3_1262474_T->C 3 1262474 1262474 T C snp 1909.77 0/1 99 184 103 81 0.44 exonic rs2013828 CNTN6 AU synonymous SNV NM_014461 exon3 c.T159C p.N53N 0.470048 0.5119 0.381516 0.4082 0.4975 Uncertain 3_1337203_A->G 3 1337203 1337203 A G snp 546.77 1/1 42 16 0 16 1.0 intronic rs565499 CNTN6 AU NM_014461 exon6 c.147592-81A>G 0.85643 0.996 Uncertain 3_1424718_G->A 3 1424718 1424718 G A snp 3076.77 1/1 99 105 1 104 0.99 exonic rs2291101 CNTN6 AU synonymous SNV NM_014461 exon18 c.G2259A p.V753V 0.483427 0.6508 0.407274 0.4449 0.6396 Uncertain 3_1427204_T->A 3 1427204 1427204 T A snp 290.78 1/1 24 8 0 8 1.0 intronic rs3902441 CNTN6 AU NM_014461 exon20 c.237602-90T>A 0.500399 0.6339 Uncertain 3_2613001_A->G 3 2613001 2613001 A G snp 472.77 1/1 36 12 0 12 1.0 intronic rs2616585 CNTN4 AU 0.646765 0.873 Uncertain 3_2777622_A->G 3 2777622 2777622 A G snp 4898.77 1/1 99 174 0 174 1.0 intronic rs1554198 CNTN4 AU NM_001206955 exon4 c.164711-276A>G 0.761781 0.8631 0.807464 0.8832 0.8641 Uncertain 3_2787532_A->G 3 2787532 2787532 A G snp 180.9 1/1 15 5 0 5 1.0 intronic rs4685547 CNTN4 AU NM_001206955 exon5 c.174194+151A>G 0.839856 0.8681 Uncertain 3_2908694_A->G 3 2908694 2908694 A G snp 1096.77 0/1 99 103 57 46 0.45 intronic rs6789163 CNTN4 AU NM_001206955 exon7 c.295446+61A>G 0.446286 0.6964 Uncertain 3_2924686_G->A 3 2924686 2924686 G A snp 73.77 0/1 28 4 1 3 0.75 intronic rs4685575 CNTN4 AU NM_001206955 exon8 c.311641-142G>A 0.611422 0.7669 Uncertain 3_2967186_A->G 3 2967186 2967186 A G snp 37.77 0/1 66 4 2 2 0.5 intronic rs1967176 CNTN4 AU NM_001206955 exon12 c.354125-126A>G 0.466454 0.7143 Uncertain 3_3030223_C->A 3 3030223 3030223 C A snp 675.77 0/1 99 65 38 27 0.42 intronic rs13068264 CNTN4 AU NM_001206955 exon13 c.416969+67C>A 0.470647 0.2827 Uncertain 3_3076218_G->A 3 3076218 3076218 G A snp 566.77 0/1 99 39 17 22 0.56 intronic rs9845519 CNTN4 AU NM_001206955 exon16 c.463128-97G>A 0.363019 0.5198 Uncertain 3_3076284_G->C 3 3076284 3076284 G C snp 1231.77 0/1 99 91 41 50 0.55 intronic rs6765545 CNTN4 AU NM_001206955 exon16 c.463128-31G>C 0.378794 0.4266 0.439797 0.4165 0.4240 Uncertain 3_3076401_C->T 3 3076401 3076401 C T snp 1614.77 0/1 99 144 69 75 0.52 exonic rs6790908 CNTN4 AU synonymous SNV NM_175607 exon17 c.C1869T p.N623N 0.428315 0.3145 0.528987 0.4766 0.3273 Uncertain 3_3076443_A->G 3 3076443 3076443 A G snp 1266.77 0/1 99 120 64 56 0.47 exonic rs6803232 CNTN4 AU synonymous SNV NM_175607 exon17 c.A1911G p.P637P 0.560304 0.4534 0.657312 0.5878 0.4578 Uncertain 3_3080527_C->T 3 3080527 3080527 C T snp 1070.77 1/1 78 28 0 28 1.0 intronic rs163543 CNTN4 AU NM_001206955 exon18 c.467429-89C>T 0.980431 0.999 Uncertain 3_3081750_A->T 3 3081750 3081750 A T snp 4579.77 1/1 99 157 0 157 1.0 exonic rs6802588 CNTN4 AU synonymous SNV NM_175607 exon20 c.A2193T p.R731R 0.364816 0.5873 0.308473 0.4048 0.5663 Uncertain 3_3081825_T->C 3 3081825 3081825 T C snp 4207.77 1/1 99 145 0 145 1.0 exonic rs339285 CNTN4 AU synonymous SNV NM_175607 exon20 c.T2268C p.D756D 0.896565 0.8849 0.928418 0.8975 0.8894 Uncertain 3_3098041_G->C 3 3098041 3098041 G C snp 139.03 1/1 12 4 0 4 1.0 ncRNA_intronic rs163352 CNTN4-AS1 AU 0.701478 0.87 Uncertain 3_3137155_-->T 3 3137155 3137155 - T indel 392.73 0/1 99 38 15 23 0.61 intronic rs11389765 IL5RA AU NM_175724 exon2 c.3229+27insT 0.679113 0.7024 0.684236 0.6638 0.6971 Uncertain 3_3139957_T->C 3 3139957 3139957 T C snp 1826.77 0/1 99 140 66 74 0.53 exonic rs2290610 IL5RA AU nonsynonymous SNV NM_000564 exon7 c.A385G p.I129V 0.428115 0.4097 0.375058 0.3884 0.4210 1 T 0.0 P -0.967 T 0.001 T 0.003 T Pathogenic 3_3143164_A->C 3 3143164 3143164 A C snp 42.77 0/1 31 3 1 2 0.67 intronic rs6808454 IL5RA AU NM_175724 exon5 c.9476-211A>C 0.767372 0.6984 Uncertain 3_3143267_G->C 3 3143267 3143267 G C snp 342.77 0/1 99 28 14 14 0.5 intronic rs6771148 IL5RA AU NM_175724 exon5 c.9476-108G>C 0.825879 0.7629 Uncertain 3_3170792_C->T 3 3170792 3170792 C T snp 2252.77 1/1 99 75 0 75 1.0 exonic rs334773 TRNT1 AR nonsynonymous SNV NM_182916 exon2 c.C68T p.P23L 0.904553 1 0.901815 0.9722 1 0.66 T 0.000 P -1.012 T 0.0 T 0.0 T Pathogenic 3_3170910_A->G 3 3170910 3170910 A G snp 909.77 1/1 66 33 0 33 1.0 intronic rs334772 TRNT1 AR NM_001302946 exon2 c.148+38A>G 0.899161 1 0.898739 0.9718 1 Uncertain 3_3171460_C->T 3 3171460 3171460 C T snp 1946.77 1/1 99 63 0 63 1.0 intronic rs334769 TRNT1 AR NM_001302946 exon2 c.148+588C>T 0.904353 1 Uncertain 3_3171713_-->CCTGACT 3 3171713 3171713 - CCTGACT indel 7269.73 1/1 99 79 0 79 1.0 intronic rs113671187 TRNT1 AR NM_001302946 exon2 c.148+841insCCTGACT 0.899161 1 Uncertain 3_3179262_A->T 3 3179262 3179262 A T snp 225.84 1/1 18 7 0 7 1.0 intronic rs334767 TRNT1 AR NM_001302946 exon3 c.8413+125A>T 0.906949 1 Uncertain 3_3182485_A->G 3 3182485 3182485 A G snp 172.9 1/1 15 5 0 5 1.0 intronic rs184579 TRNT1 AR NM_001302946 exon4 c.11608+153A>G 0.907548 1 Uncertain 3_3182500_G->C 3 3182500 3182500 G C snp 99.28 1/1 9 3 0 3 1.0 intronic rs334760 TRNT1 AR NM_001302946 exon4 c.11608+168G>C 1 1 Uncertain 3_3188016_A->G 3 3188016 3188016 A G snp 1147.77 1/1 84 32 0 32 1.0 intronic rs3762760 TRNT1 AR NM_001302946 exon6 c.17389-97A>G 0.333466 0.7133 Uncertain 3_3188362_A->G 3 3188362 3188362 A G snp 661.77 1/1 51 17 0 17 1.0 intronic rs1672772 TRNT1 AR NM_182916 exon6 c.17583+55A>G 0.738618 0.9494 Uncertain 3_3189059_T->C 3 3189059 3189059 T C snp 224.84 1/1 18 6 0 6 1.0 intronic rs1621648 TRNT1 AR NM_001302946 exon7 c.18409-74T>C 0.904153 1 Uncertain 3_3189279_A->G 3 3189279 3189279 A G snp 1827.77 1/1 99 66 0 66 1.0 exonic rs1705805 TRNT1 AR synonymous SNV NM_182916 exon7 c.A948G p.A316A 0.739018 0.9494 0.733774 0.7986 0.9402 Uncertain 3_3193957_A->C 3 3193957 3193957 A C snp 94.28 1/1 9 3 0 3 1.0 intronic rs1705800 CRBN AR NM_016302 exon2 c.1591-182A>C 0.905152 1 Uncertain 3_3194107_-->A 3 3194107 3194107 - A indel 1987.73 1/1 99 86 1 85 0.99 intronic rs11414437 CRBN AR NM_016302 exon2 c.1591-32insA 0.2842 0.5767 Uncertain 3_3195850_C->G 3 3195850 3195850 C G snp 99.28 1/1 9 4 0 4 1.0 intronic rs12635247 CRBN AR NM_016302 exon4 c.3211+91C>G 0.247204 0.6974 Uncertain 3_3196274_T->- 3 3196274 3196274 T - indel 602.73 1/1 57 19 0 19 1.0 intronic rs11300080 CRBN AR NM_016302 exon5 c.3882-156delT 0.901757 1 Uncertain 3_3197871_T->C 3 3197871 3197871 T C snp 449.77 1/1 33 18 0 18 1.0 intronic rs1705789 CRBN AR NM_016302 exon6 c.5354-31T>C 0.904553 1 0.904890 0.9732 1 Uncertain 3_3197918_A->G 3 3197918 3197918 A G snp 718.77 1/1 51 31 0 31 1.0 exonic rs17027638 CRBN AR synonymous SNV NM_016302 exon6 c.T735C p.Y245Y 0.248403 0.6984 0.015378 0.1349 0.6824 1.000 P -0.973 T CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000116837.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Likely benign 3_3215954_A->G 3 3215954 3215954 A G snp 3850.77 1/1 99 132 2 130 0.98 intronic rs1669321 CRBN AR NM_016302 exon9 c.23397+9A>G 0.883786 1 0.881978 0.9673 1 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000116835.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 3_3221430_C->T 3 3221430 3221430 C T snp 2504.77 1/1 99 90 0 90 1.0 upstream rs1672753 CRBN AR 0.721046 0.9464 0.727113 Uncertain 3_3886580_A->G 3 3886580 3886580 A G snp 6077.77 1/1 99 208 1 207 1.0 exonic rs4685689 LRRN1 AU synonymous SNV NM_020873 exon2 c.A255G p.A85A 0.986821 0.996 0.982239 0.9942 0.9876 Uncertain 3_3886721_C->A 3 3886721 3886721 C A snp 2940.77 0/1 99 221 103 118 0.53 exonic rs3749350 LRRN1 AU synonymous SNV NM_020873 exon2 c.C396A p.T132T 0.291134 0.4067 0.205597 0.1885 0.4242 Uncertain 3_3886847_G->C 3 3886847 3886847 G C snp 3145.77 0/1 99 233 103 130 0.56 exonic rs3749349 LRRN1 AU synonymous SNV NM_020873 exon2 c.G522C p.L174L 0.213658 0.2679 0.161695 0.1542 0.2824 Uncertain 3_3886919_C->T 3 3886919 3886919 C T snp 3422.77 0/1 99 250 115 135 0.54 exonic rs3749348 LRRN1 AU synonymous SNV NM_020873 exon2 c.C594T p.I198I 0.211661 0.2619 0.160464 0.1520 0.2792 Uncertain 3_3887093_A->G 3 3887093 3887093 A G snp 3054.77 0/1 99 249 122 127 0.51 exonic rs9844909 LRRN1 AU synonymous SNV NM_020873 exon2 c.A768G p.Q256Q 0.251997 0.3224 0.200938 0.2494 0.3076 Uncertain 3_4046763_T->G 3 4046763 4046763 T G snp 271.77 0/1 99 17 6 11 0.65 intergenic rs62257623 LRRN1 AU 0.317692 0.4464 Uncertain 3_4344936_T->G 3 4344936 4344936 T G snp 282.77 0/1 99 31 21 10 0.32 upstream rs221109 SETMAR AU 0.124002 0.1786 Uncertain 3_4403767_A->G 3 4403767 4403767 A G snp 227.84 1/1 18 8 0 8 1.0 UTR3 rs2819561 SUMF1 AR 0.704473 0.7609 Uncertain 3_4403817_T->A 3 4403817 4403817 T A snp 720.77 1/1 54 29 0 29 1.0 UTR3 rs2633851 SUMF1 AR 0.726837 0.7609 0.602799 0.6334 0.7671 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000082713.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 3_4403837_A->G 3 4403837 4403837 A G snp 1088.77 1/1 78 36 0 36 1.0 exonic rs2633852 SUMF1 AR synonymous SNV NM_182760 exon9 c.T1116C p.T372T 0.760383 0.7609 0.653621 0.6440 0.7685 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000082714.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 3_4404087_A->G 3 4404087 4404087 A G snp 527.77 1/1 39 19 0 19 1.0 intronic rs2819560 SUMF1 AR NM_182760 exon1 c.111+149A>G 0.704273 0.7599 Uncertain 3_4452737_G->A 3 4452737 4452737 G A snp 1157.77 0/1 99 85 44 41 0.48 intronic rs813811 SUMF1 AR NM_182760 exon3 c.48835+75G>A 0.579673 0.4425 Uncertain 3_4461569_G->A 3 4461569 4461569 G A snp 404.77 0/1 99 24 11 13 0.54 intronic rs711667 SUMF1 AR NM_182760 exon6 c.57920-178G>A 0.767772 0.755 Uncertain 3_4461698_C->T 3 4461698 4461698 C T snp 1416.77 0/1 99 113 48 65 0.58 intronic rs711666 SUMF1 AR NM_182760 exon6 c.57920-49C>T 0.886781 0.9851 0.896279 0.9617 0.9809 Uncertain 3_4562667_T->G 3 4562667 4562667 T G snp 859.77 0/1 99 63 29 34 0.54 intronic rs1038639 ITPR1 AU,AD NM_002222 exon4 c.4532-40T>G 0.491414 0.7044 0.438161 0.5581 0.7198 Uncertain 3_4687470_-->CT 3 4687470 4687470 - CT indel 1447.73 1/1 99 51 0 51 1.0 intronic rs373317846 ITPR1 AU,AD NM_002222 exon10 c.129237+58insCT 0.7869 0.8053 Uncertain 3_4687548_A->G 3 4687548 4687548 A G snp 142.03 1/1 12 6 0 6 1.0 intronic rs4271897 ITPR1 AU,AD NM_002222 exon10 c.129237+136A>G 0.874401 1 Uncertain 3_4687577_A->G 3 4687577 4687577 A G snp 99.28 1/1 9 4 0 4 1.0 intronic rs4303850 ITPR1 AU,AD NM_002222 exon10 c.129237+165A>G 0.851637 1 Uncertain 3_4693656_C->T 3 4693656 4693656 C T snp 1515.77 1/1 99 47 0 47 1.0 intronic rs6442894 ITPR1 AU,AD NM_002222 exon11 c.135631-150C>T 0.970847 1 Uncertain 3_4693937_G->C 3 4693937 4693937 G C snp 1388.77 1/1 99 44 0 44 1.0 intronic rs6442895 ITPR1 AU,AD NM_002222 exon11 c.135727+35G>C 0.826877 1 0.758002 0.8697 1 Uncertain 3_4694010_A->C 3 4694010 4694010 A C snp 297.78 1/1 24 11 0 11 1.0 intronic rs6442896 ITPR1 AU,AD NM_002222 exon11 c.135727+108A>C 0.857628 1 Uncertain 3_4725239_G->A 3 4725239 4725239 G A snp 3280.77 0/1 99 250 130 120 0.48 splicing rs2306878 ITPR1 AU,AD NM_002222 exon26 c.167060+4G>A 0.0157748 0.0645 0.001116 0.0118 0.0761 Pathogenic 3_4738999_-->GTGTGT 3 4738999 4738999 - GTGTGT indel 1631.73 ./1 99 90 1 89 0.99 intronic ITPR1 AU,AD NM_002222 exon33 c.180781+43insGTGTGT Uncertain 3_4738999_-->GTGT 3 4738999 4738999 - GTGT indel 1631.73 ./1 99 90 1 89 0.99 intronic rs149795767 ITPR1 AU,AD NM_002222 exon33 c.180781+43insGTGT Uncertain 3_4817057_T->C 3 4817057 4817057 T C snp 4538.77 1/1 99 167 0 167 1.0 exonic rs6442905 ITPR1 AU,AD synonymous SNV NM_002222 exon43 c.T5922C p.N1974N 0.96266 0.9782 0.965291 0.9701 0.9870 Uncertain 3_4842231_C->T 3 4842231 4842231 C T snp 5625.77 1/1 99 206 0 206 1.0 exonic rs2291862 ITPR1 AU,AD synonymous SNV NM_002222 exon50 c.C6865T p.L2289L 0.264577 0.377 0.230845 0.2868 0.4144 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000117303.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 3_4842488_G->T 3 4842488 4842488 G T snp 90.28 1/1 9 3 0 3 1.0 intronic rs2291861 ITPR1 AU,AD NM_002222 exon50 c.284109+204G>T 0.466454 0.3462 Uncertain 3_4856180_T->C 3 4856180 4856180 T C snp 1824.77 1/1 99 65 0 65 1.0 exonic rs711631 ITPR1 AU,AD synonymous SNV NM_002222 exon54 c.T7446C p.T2482T 0.790935 0.9603 0.802560 0.8244 0.9664 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000117304.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 3_4856234_G->A 3 4856234 4856234 G A snp 829.77 1/1 63 29 0 29 1.0 exonic rs901854 ITPR1 AU,AD synonymous SNV NM_002222 exon54 c.G7500A p.K2500K 0.58746 0.7202 0.595486 0.6054 0.7220 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000117305.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 3_4856993_C->G 3 4856993 4856993 C G snp 915.77 1/1 69 24 0 24 1.0 intronic rs6442911 ITPR1 AU,AD NM_002222 exon55 c.298727+91C>G 0.942492 1 Uncertain 3_4859725_G->A 3 4859725 4859725 G A snp 2489.77 1/1 99 93 0 93 1.0 intronic rs9844268 ITPR1 AU,AD NM_002222 exon56 c.301590-40G>A 0.94988 1 0.949890 0.9867 1 Uncertain 3_4872813_T->A 3 4872813 4872813 T A snp 229.77 0/1 99 18 7 11 0.61 intronic rs5018278 ITPR1 AU,AD NM_002222 exon57 c.320282-5644T>A 0.721645 0.7976 Uncertain 3_4872815_T->A 3 4872815 4872815 T A snp 335.77 0/1 85 18 6 12 0.67 intronic rs5018277 ITPR1 AU,AD NM_002222 exon57 c.320282-5642T>A 0.721645 0.7976 Uncertain 3_4878420_TTTTTTTTTTT->- 3 4878420 4878430 TTTTTTTTTTT - indel 1333.73 0/1 99 17 4 13 0.76 intronic rs201029025 ITPR1 AU,AD NM_002222 exon57 c.320282-37_320282-27delTTTTTTTTTTT 0.71885 0.7728 0.3240 0.3171 Uncertain 3_4927281_T->C 3 4927281 4927281 T C snp 624.77 0/1 99 57 31 26 0.46 intergenic rs4685841 ITPR1 AU,AD 0.702077 0.5188 Uncertain 3_4927308_A->G 3 4927308 4927308 A G snp 2066.77 1/1 99 81 0 81 1.0 intergenic rs6794077 ITPR1 AU,AD 0.992612 1 Uncertain 3_4942300_T->C 3 4942300 4942300 T C snp 2907.77 0/1 99 229 106 123 0.54 ncRNA_exonic rs3762783 BHLHE40-AS1 AU 0.263778 0.0754 0.2903 0.0505 Uncertain 3_4942430_G->A 3 4942430 4942430 G A snp 856.77 0/1 99 65 29 36 0.55 ncRNA_intronic rs3762784 BHLHE40-AS1 AU 0.257588 0.0655 0.2657 0.0449 Uncertain 3_5024415_-->T 3 5024415 5024415 - T indel 145.77 1/1 21 7 0 7 1.0 intronic rs11398309 BHLHE40 AU NM_003670 exon5 c.3117-105insT 0.652955 0.7014 Uncertain 3_5241223_C->T 3 5241223 5241223 C T snp 4056.77 1/1 99 145 0 145 1.0 intronic rs377120 EDEM1 AU NM_014674 exon3 c.11786-53C>T 0.903754 0.9435 Uncertain 3_5241309_C->A 3 5241309 5241309 C A snp 5548.77 1/1 99 215 0 215 1.0 exonic rs410509 EDEM1 AU synonymous SNV NM_014674 exon3 c.C615A p.A205A 0.917332 0.9435 0.944103 0.9547 0.9394 Uncertain 3_6903601_A->G 3 6903601 6903601 A G snp 3565.77 1/1 99 124 0 124 1.0 intronic rs342034 GRM7 AU NM_000844 exon1 c.519+7A>G 0.984824 0.999 0.964555 0.9683 1 Uncertain 3_7503231_T->C 3 7503231 7503231 T C snp 787.77 0/1 99 66 37 29 0.44 intronic rs2271826 GRM7 AU NM_000844 exon7 c.600194-38T>C 0.0107827 0.0317 0.002153 0.0038 0.0358 Uncertain 3_7503578_T->G 3 7503578 7503578 T G snp 46.77 0/1 36 4 2 2 0.5 intronic rs79140138 GRM7 AU NM_000844 exon7 c.600334+169T>G 0.0121805 0.0317 Uncertain 3_7678010_G->A 3 7678010 7678010 G A snp 5386.77 1/1 99 193 1 192 0.99 intronic rs7611935 GRM7 AU NM_000844 exon9 c.818660-43725G>A 0.740016 0.7798 Uncertain 3_7678090_G->A 3 7678090 7678090 G A snp 3035.77 1/1 99 107 0 107 1.0 intronic rs7612048 GRM7 AU NM_000844 exon9 c.818660-43645G>A 0.743211 0.7798 Uncertain 3_7732727_T->- 3 7732727 7732727 T - indel 226.74 1/1 27 9 0 9 1.0 intronic rs5846531 GRM7 AU NM_181874 exon10 c.825060+4592delT 0.8334 0.8882 Uncertain 3_8299607_AAGGAAGGAAGG->- 3 8299607 8299618 AAGGAAGGAAGG - indel 900.73 0/1 99 10 2 8 0.8 ncRNA_intronic rs201757824 LMCD1-AS1 AU Uncertain 3_8299641_G->C 3 8299641 8299641 G C snp 51.77 0/1 80 27 21 6 0.22 ncRNA_intronic rs4990797 LMCD1-AS1 AU Uncertain 3_8543713_-->T 3 8543713 8543713 - T indel 4366.73 1/1 99 115 0 115 1.0 intronic rs397766983 LMCD1 AU NM_001278235 exon1 c.42+47insT 1 1 1.0000 1 Uncertain 3_8608920_G->A 3 8608920 8608920 G A snp 50.74 1/1 6 2 0 2 1.0 intronic rs171408 LMCD1 AU NM_014583 exon6 c.65501-205G>A 0.715855 0.7312 Uncertain 3_8661567_C->G 3 8661567 8661567 C G snp 768.77 0/1 99 52 22 30 0.58 exonic rs181750881 SSUH2 AU nonsynonymous SNV NM_001256748 exon12 c.G1115C p.C372S 0.00339457 0.0139 0.0014 0.0157 0 D 0.740 D -0.291 T 0.999 D 0.994 D Pathogenic 3_8665360_A->G 3 8665360 8665360 A G snp 1114.77 0/1 99 101 51 50 0.5 intronic rs9809581 SSUH2 AU NM_015931 exon2 c.3789+18A>G 0.251597 0.1587 0.249378 0.2508 0.1510 Uncertain 3_8667735_C->A 3 8667735 8667735 C A snp 222.77 0/1 94 10 3 7 0.7 intronic rs355057 SSUH2 AU NM_015931 exon4 c.6361-179C>A 0.350839 0.3909 Uncertain 3_8667896_T->C 3 8667896 8667896 T C snp 6903.77 1/1 99 250 1 249 1.0 intronic rs355058 SSUH2 AU NM_015931 exon4 c.6361-18T>C 0.810903 1 0.749500 0.8035 0.9998 Uncertain 3_8669361_C->A 3 8669361 8669361 C A snp 1472.77 0/1 99 135 68 67 0.5 intronic rs1533001 SSUH2 AU NM_015931 exon5 c.7830-22C>A 0.460064 0.6458 0.400969 0.4895 0.7285 Uncertain 3_8669368_G->- 3 8669368 8669368 G - indel 5217.73 1/1 99 139 0 139 1.0 intronic rs398051543 SSUH2 AU NM_015931 exon5 c.7830-15delG 0.844449 1 0.781584 0.8057 0.9994 Uncertain 3_8669615_G->C 3 8669615 8669615 G C snp 291.78 1/1 24 8 0 8 1.0 intronic rs355055 SSUH2 AU NM_015931 exon5 c.7916+146G>C 0.85643 1 Uncertain 3_8675318_C->T 3 8675318 8675318 C T snp 443.53 1/1 3 15 1 14 0.93 intronic rs2276801 SSUH2 AU NM_015931 exon9 c.13798-33C>T 0.247604 0.2341 0.196441 0.3614 0.2784 Uncertain 3_8675539_G->A 3 8675539 8675539 G A snp 859.77 0/1 99 80 37 43 0.54 exonic rs2276800 SSUH2 AU nonsynonymous SNV NM_015931 exon4 c.C86T p.P29L 0.333666 0.1984 0.318545 0.2289 0.2199 0.8 T 0.0 P -0.988 T 0.0 T 0.0 T Pathogenic 3_8675778_T->C 3 8675778 8675778 T C snp 335.78 1/1 27 10 0 10 1.0 intronic rs11131140 SSUH2 AU NM_015931 exon9 c.14074+151T>C 0.778355 0.7857 Uncertain 3_8675814_G->C 3 8675814 8675814 G C snp 135.03 1/1 12 4 0 4 1.0 intronic rs12635175 SSUH2 AU NM_015931 exon9 c.14074+187G>C 0.19389 0.3175 Uncertain 3_8676204_A->G 3 8676204 8676204 A G snp 4710.77 1/1 99 177 0 177 1.0 intronic rs3774210 SSUH2 AU NM_015931 exon9 c.14074+577A>G 0.88738 0.9008 0.9087 0.8861 Uncertain 3_8676945_T->C 3 8676945 8676945 T C snp 4604.77 1/1 99 160 0 160 1.0 intronic rs3816911 SSUH2 AU NM_015931 exon10 c.15432-40T>C 0.689896 0.7063 0.8208 0.6939 Uncertain 3_8686191_C->T 3 8686191 8686191 C T snp 138.77 0/1 99 10 4 6 0.6 intronic rs164959 SSUH2 AU NM_001256748 exon12 c.24863-225C>T 0.381589 0.2302 Uncertain 3_8686202_A->C 3 8686202 8686202 A C snp 298.77 0/1 99 16 6 10 0.63 intronic rs164960 SSUH2 AU NM_001256748 exon12 c.24863-214A>C 0.135982 0.0377 Uncertain 3_8686368_T->C 3 8686368 8686368 T C snp 2783.77 0/1 99 249 125 124 0.5 intronic rs241051 SSUH2 AU NM_001256748 exon12 c.24863-48T>C 0.0958466 0.0308 0.1512 0.0202 Uncertain 3_8701374_T->C 3 8701374 8701374 T C snp 1458.77 0/1 99 146 80 66 0.45 intergenic rs365559 SSUH2 AU 0.0920527 0.0625 Uncertain 3_8701430_T->C 3 8701430 8701430 T C snp 4466.77 1/1 99 163 2 161 0.99 intergenic rs371133 SSUH2 AU 0.279553 0.253 0.2698 0.2525 Uncertain 3_8705226_G->T 3 8705226 8705226 G T snp 291.78 1/1 24 8 0 8 1.0 intergenic rs125698 SSUH2 AU 0.233826 0.2242 Uncertain 3_8705277_G->A 3 8705277 8705277 G A snp 244.77 0/1 99 32 22 10 0.31 intergenic rs12634985 SSUH2 AU 0.150759 0.1667 Uncertain 3_8705555_T->C 3 8705555 8705555 T C snp 1919.77 0/1 99 136 56 80 0.59 intergenic rs34054872 SSUH2 AU 0.401957 0.62 0.4592 0.5960 Uncertain 3_8757311_G->C 3 8757311 8757311 G C snp 472.77 0/1 99 43 24 19 0.44 intergenic rs17049469 SSUH2 AU 0.409944 0.4454 Uncertain 3_8784046_-->AAA 3 8784046 8784046 - AAA indel 267.37 0/1 99 20 10 10 0.5 intronic rs36055094 CAV3 AU,AD,AR NM_001234 exon2 c.11649-3165insAAA Uncertain 3_8794765_G->T 3 8794765 8794765 G T snp 1714.77 0/1 99 166 89 77 0.46 exonic rs142282272 OXTR AU synonymous SNV NM_000916 exon4 c.C1068A p.R356R 0.00219649 0.0109 0.0013 0.0178 Uncertain 3_8809222_C->T 3 8809222 8809222 C T snp 3563.77 0/1 99 250 123 127 0.51 exonic rs4686302 OXTR AU nonsynonymous SNV NM_000916 exon3 c.G652A p.A218T 0.142572 0.1696 0.103814 0.1490 0.1833 0.33 T 0.113 P -0.997 T 0.002 T 0.01 T Pathogenic 3_8809703_G->A 3 8809703 8809703 G A snp 1871.77 0/1 99 178 93 85 0.48 exonic rs2228485 OXTR AU synonymous SNV NM_000916 exon3 c.C171T p.N57N 0.717851 0.7272 0.721006 0.7540 0.7387 Uncertain 3_8931984_A->C 3 8931984 8931984 A C snp 575.77 0/1 99 49 27 22 0.45 intronic rs656626 RAD18 AU NM_020165 exon2 c.9032-88A>C 0.832268 0.5923 Uncertain 3_8932189_C->T 3 8932189 8932189 C T snp 472.77 0/1 99 30 13 17 0.57 intronic rs607531 RAD18 AU NM_020165 exon2 c.9095+54C>T 0.522564 0.3591 0.598598 Uncertain 3_8943988_C->A 3 8943988 8943988 C A snp 110.78 0/1 27 5 1 4 0.8 intronic rs464302 RAD18 AU NM_020165 exon4 c.21023-75C>A 0.487021 0.3581 Uncertain 3_8955240_T->C 3 8955240 8955240 T C snp 662.77 0/1 99 43 16 27 0.63 intronic rs430781 RAD18 AU NM_020165 exon6 c.32287-87T>C 0.835264 0.5913 Uncertain 3_8955389_C->T 3 8955389 8955389 C T snp 748.77 0/1 99 74 40 34 0.46 exonic rs373572 RAD18 AU nonsynonymous SNV NM_020165 exon8 c.G905A p.R302Q 0.647564 0.3591 0.704280 0.6951 0.3532 0.76 T 0.000 P -0.988 T 0.001 T 0.0 T Pathogenic 3_8988809_C->T 3 8988809 8988809 C T snp 348.78 1/1 27 11 0 11 1.0 intronic rs689296 RAD18 AU NM_020165 exon10 c.65863-94C>T 0.493011 0.3581 Uncertain 3_9005078_C->T 3 9005078 9005078 C T snp 1875.77 0/1 99 138 60 78 0.57 UTR5 rs615967 RAD18 AU 0.597644 0.3958 0.662177 0.7529 0.4511 Uncertain 3_9027704_A->G 3 9027704 9027704 A G snp 605.77 0/1 99 66 42 24 0.36 intronic rs341785 SRGAP3 AU NM_014850 exon1 c.414+88A>G 0.252995 0.4256 Uncertain 3_9032159_T->G 3 9032159 9032159 T G snp 436.77 0/1 99 31 16 15 0.48 intronic rs2648330 SRGAP3 AU NM_014850 exon2 c.4993-36T>G 0.317692 0.3631 0.240780 0.1913 0.3866 Uncertain 3_9066853_T->C 3 9066853 9066853 T C snp 3204.83 1/1 99 110 0 110 1.0 intronic rs421041 SRGAP3 AU NM_014850 exon9 c.39742-91T>C 0.783746 0.6954 Uncertain 3_9068577_T->C 3 9068577 9068577 T C snp 1271.77 0/1 99 109 55 54 0.5 intronic rs1703128 SRGAP3 AU NM_014850 exon10 c.41416-41T>C 0.243011 0.2748 0.193065 0.2192 0.2966 Uncertain 3_9068858_A->G 3 9068858 9068858 A G snp 310.77 0/1 99 13 4 9 0.69 intronic rs1703127 SRGAP3 AU NM_014850 exon10 c.41477+179A>G 0.199481 0.2798 Uncertain 3_9069747_A->G 3 9069747 9069747 A G snp 2571.77 1/1 99 92 0 92 1.0 intronic rs416685 SRGAP3 AU NM_001033117 exon11 c.42581-36A>G 0.834265 0.6974 0.821006 0.7750 0.6909 Uncertain 3_9089065_G->C 3 9089065 9089065 G C snp 880.77 0/1 99 67 31 36 0.54 intronic rs2292251 SRGAP3 AU NM_014850 exon13 c.61872-9G>C 0.0704872 0.1181 0.030601 0.0307 0.1178 Uncertain 3_9089254_C->G 3 9089254 9089254 C G snp 1039.77 0/1 99 73 30 43 0.59 intronic rs2244864 SRGAP3 AU NM_014850 exon13 c.61957+95C>G 0.780751 0.6319 Uncertain 3_9102137_G->C 3 9102137 9102137 G C snp 65.28 1/1 9 3 0 3 1.0 intronic rs6775479 SRGAP3 AU NM_014850 exon17 c.74841+94G>C 0.586661 0.5813 Uncertain 3_9122948_A->G 3 9122948 9122948 A G snp 2948.77 1/1 99 111 0 111 1.0 intronic rs2664089 SRGAP3 AU NM_014850 exon19 c.94569+1177A>G 0.976837 1 0.9618 0.995 Uncertain 3_9123116_C->T 3 9123116 9123116 C T snp 415.77 1/1 33 11 0 11 1.0 intronic rs2669986 SRGAP3 AU NM_014850 exon19 c.94569+1345C>T 0.386581 0.3433 Uncertain 3_9123134_A->G 3 9123134 9123134 A G snp 261.8 1/1 21 7 0 7 1.0 intronic rs2664088 SRGAP3 AU NM_014850 exon19 c.94569+1363A>G 0.287141 0.3492 Uncertain 3_9406661_G->A 3 9406661 9406661 G A snp 207.77 0/1 99 20 13 7 0.35 intronic rs2728949 THUMPD3 AU 0.615615 0.5675 Uncertain 3_9406836_T->C 3 9406836 9406836 T C snp 2949.77 0/1 99 244 121 123 0.5 exonic rs1054975 THUMPD3 AU synonymous SNV NM_001114092 exon2 c.T84C p.S28S 0.619209 0.5813 0.590420 0.6160 0.5565 Uncertain 3_9407022_T->C 3 9407022 9407022 T C snp 1328.77 0/1 99 109 53 56 0.51 intronic rs2648536 THUMPD3 AU NM_015453 exon2 c.252+18T>C 0.63099 0.5843 0.597263 0.6202 0.5573 Uncertain 3_9408443_A->C 3 9408443 9408443 A C snp 31.77 0/1 60 10 8 2 0.2 intronic rs2648535 THUMPD3 AU NM_015453 exon3 c.1839-148A>C 0.619409 0.5813 Uncertain 3_9416474_A->G 3 9416474 9416474 A G snp 793.77 0/1 99 70 42 28 0.4 intronic rs2596920 THUMPD3 AU NM_015453 exon5 c.9578+144A>G 0.151358 0.3472 Uncertain 3_9422210_T->C 3 9422210 9422210 T C snp 561.77 0/1 99 53 27 26 0.49 exonic rs2596916 THUMPD3 AU synonymous SNV NM_001114092 exon7 c.T1032C p.C344C 0.617212 0.5665 0.589343 0.6157 0.5456 1.000 P -0.921 T Likely benign 3_9422335_AG->- 3 9422335 9422336 AG - indel 1018.73 0/1 99 53 29 24 0.45 intronic rs34405225 THUMPD3 AU NM_015453 exon7 c.15550+33_15550+34delAG 0.194888 0.37 0.130372 0.1020 0.3582 Uncertain 3_9425911_G->A 3 9425911 9425911 G A snp 951.77 0/1 99 77 40 37 0.48 exonic rs1129170 THUMPD3 AU synonymous SNV NM_001114092 exon9 c.G1251A p.K417K 0.604433 0.5655 0.576888 0.6036 0.5443 1.0 P -0.901 T Likely benign 3_9489767_T->C 3 9489767 9489767 T C snp 1031.77 0/1 99 73 35 38 0.52 intronic rs2258735 SETD5 AD NM_001080517 exon15 c.19068+77T>C 0.899161 0.6528 Uncertain 3_9547950_G->C 3 9547950 9547950 G C snp 2229.77 1/1 99 82 0 82 1.0 intronic rs2625890 LHFPL4 AU NM_198560 exon2 c.3993+63G>C 0.717452 0.9147 Uncertain 3_9547959_C->T 3 9547959 9547959 C T snp 1955.77 1/1 99 72 0 72 1.0 intronic rs2625889 LHFPL4 AU NM_198560 exon2 c.3993+72C>T 0.713658 0.9127 Uncertain 3_9727002_G->C 3 9727002 9727002 G C snp 730.77 0/1 99 48 20 28 0.58 intronic rs787836 MTMR14 AD NM_022485 exon13 c.35664+71G>C 0.178115 0.377 0.141919 Uncertain 3_9730868_G->C 3 9730868 9730868 G C snp 129.03 1/1 12 4 0 4 1.0 intronic rs159142 MTMR14 AD NM_022485 exon16 c.39499+102G>C 0.915535 0.9593 Uncertain 3_9743399_GGAG->- 3 9743399 9743402 GGAG - indel 6937.73 1/1 99 107 0 107 1.0 intronic rs144534173 MTMR14 AD NM_022485 exon17 c.52206-74_52206-71delGGAG 0.907947 0.9563 Uncertain 3_9775730_G->A 3 9775730 9775730 G A snp 392.77 0/1 99 23 11 12 0.52 intronic rs13085155 BRPF1 AU 0.0555112 0.0665 Uncertain 3_9798140_C->G 3 9798140 9798140 C G snp 1532.77 0/1 99 161 97 64 0.4 intronic rs2072668 OGG1 AU NM_002542 exon5 c.6184-14C>G 0.335463 0.5486 0.243734 0.2810 0.5881 Uncertain 3_9798773_C->G 3 9798773 9798773 C G snp 961.77 0/1 99 95 56 39 0.41 exonic rs1052133 OGG1 AU nonsynonymous SNV NM_002542 exon7 c.C977G p.S326C 0.302117 0.5476 0.211133 0.2721 0.5876 0.79 T 0.0 P -0.903 T 0.245 T 0.138 T ID=CM993185;DIS=Lung cancer, susceptibility, association with;TAG=DFP;PUB=10744126 DFP Pathogenic 3_9801080_G->A 3 9801080 9801080 G A snp 910.77 0/1 99 63 32 31 0.49 intronic rs2304277 CAMK1 AU NM_003656 exon3 c.1949-91G>A 0.352037 0.5387 Uncertain 3_9822275_C->T 3 9822275 9822275 C T snp 197.77 0/1 99 17 7 10 0.59 intronic rs3868897 TADA3 AU NM_001278270 exon1 c.193+42C>T 0.653355 0.6964 0.670205 0.7117 0.7251 Uncertain 3_9823302_T->G 3 9823302 9823302 T G snp 623.77 0/1 99 45 19 26 0.58 intronic rs6443264 TADA3 AU NM_001278270 exon1 c.193+1069T>G 0.331869 0.5466 0.2646 0.5 Uncertain 3_9828676_G->C 3 9828676 9828676 G C snp 490.77 0/1 99 45 26 19 0.42 intronic rs7621556 TADA3 AU NM_001278270 exon4 c.6649-13G>C 0.295727 0.5298 0.198370 0.2510 0.5663 Uncertain 3_9834728_G->A 3 9834728 9834728 G A snp 531.77 0/1 99 73 47 26 0.36 UTR5 rs184478701 ARPC4 AU 0.00419329 0.0208 Uncertain 3_9839182_T->C 3 9839182 9839182 T C snp 170.77 0/1 99 14 8 6 0.43 intronic rs4686371 ARPC4 AU NM_001198780 exon2 c.4537-160T>C 0.298522 0.5278 Uncertain 3_9841989_A->G 3 9841989 9841989 A G snp 796.77 0/1 99 59 24 35 0.59 intronic rs6443266 ARPC4 AU NM_001198780 exon3 c.7175+9A>G 0.655351 0.6964 0.680753 0.7043 0.7173 Uncertain 3_9847673_A->C 3 9847673 9847673 A C snp 50.74 1/1 6 2 0 2 1.0 intronic rs7637785 ARPC4 AU NM_001198780 exon6 c.13088-220A>C 0.307907 0.5288 Uncertain 3_9851678_C->T 3 9851678 9851678 C T snp 130.03 1/1 12 4 0 4 1.0 UTR5 rs549395588 TTLL3 AU 0.000399361 0.002 Uncertain 3_9852059_-->GAT 3 9852059 9852059 - GAT indel 344.73 0/1 99 15 7 8 0.53 exonic rs34761997 TTLL3 AU nonframeshift insertion NM_001025930 exon1 c.369_370insGAT p.L123delinsLD 0.816094 0.748 0.8394 0.875 Uncertain 3_9859460_C->T 3 9859460 9859460 C T snp 831.77 0/1 99 80 38 42 0.53 intronic rs3806671 ARPC4-TTLL3 AU NM_001198793 exon7 c.24638+17C>T 0.338059 0.5268 0.227680 0.2931 0.5716 Uncertain 3_9860623_T->G 3 9860623 9860623 T G snp 833.77 0/1 99 72 36 36 0.5 intronic rs3806668 ARPC4-TTLL3 AU NM_001198793 exon7 c.24638+1180T>G 0.33746 0.5347 0.208865 0.2925 0.5770 Uncertain 3_9870862_G->A 3 9870862 9870862 G A snp 2452.77 0/1 99 207 106 101 0.49 exonic rs2290304 ARPC4-TTLL3 AU nonsynonymous SNV NM_001025930 exon10 c.G1766A p.R589Q 0.00419329 0.0208 0.000461 0.0017 0.0221 0.05 T 1.000 D -1.197 T 1.0 D 0.999 D Pathogenic 3_9876295_G->A 3 9876295 9876295 G A snp 1021.77 0/1 99 75 40 35 0.47 intronic rs35783864 ARPC4-TTLL3 AU NM_001198793 exon12 c.41559-69G>A 0.28754 0.5099 Uncertain 3_9876301_G->T 3 9876301 9876301 G T snp 988.77 0/1 99 77 41 36 0.47 intronic rs13088594 ARPC4-TTLL3 AU NM_001198793 exon12 c.41559-63G>T 0.821486 0.753 Uncertain 3_9885022_T->C 3 9885022 9885022 T C snp 394.77 0/1 99 24 11 13 0.54 intronic rs3846165 RPUSD3 AU NM_173659 exon8 c.5449-126T>C 0.876597 0.6974 Uncertain 3_9885763_C->G 3 9885763 9885763 C G snp 607.77 0/1 99 48 22 26 0.54 upstream rs3846166 RPUSD3 AU 0.00998403 0.0496 0.0020 0.0625 Uncertain 3_9896259_T->A 3 9896259 9896259 T A snp 1706.77 0/1 99 147 67 80 0.54 intergenic rs4686378 RPUSD3 AU 0.154553 0.2897 0.0658 0.2577 0.93 T 0.001 P -0.919 T 0.001 T 0.004 T Uncertain 3_9896351_A->G 3 9896351 9896351 A G snp 2826.77 1/1 99 97 0 97 1.0 intergenic rs279563 RPUSD3 AU 0.999401 1 0.9985 1 Uncertain 3_9908749_G->C 3 9908749 9908749 G C snp 44.77 0/1 73 6 3 3 0.5 UTR3 rs1053239 CIDEC AR 0.21905 0.5933 0.1884 0.6039 Uncertain 3_9918861_C->A 3 9918861 9918861 C A snp 479.77 0/1 99 46 24 22 0.48 exonic rs456168 CIDEC AR synonymous SNV NM_022094 exon3 c.G96T p.L32L 0.313299 0.248 0.267129 0.2680 0.2850 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000116747.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 3_9932337_G->C 3 9932337 9932337 G C snp 701.77 0/1 99 49 24 25 0.51 UTR5 rs279558 JAGN1 AR 0.623203 0.7093 Uncertain 3_9934428_T->C 3 9934428 9934428 T C snp 37.77 0/1 66 4 2 2 0.5 intronic rs2279795 JAGN1 AR NM_032492 exon2 c.2192-170T>C 0.230631 0.6171 0.115199 Uncertain 3_9934605_T->C 3 9934605 9934605 T C snp 2657.77 0/1 99 165 63 102 0.62 exonic rs279553 JAGN1 AR synonymous SNV NM_032492 exon2 c.T96C p.T32T 0.6877 0.7212 0.687683 0.6885 0.7286 Uncertain 3_9959166_G->A 3 9959166 9959166 G A snp 1615.77 0/1 99 142 74 68 0.48 exonic rs75116348 IL17RC AR nonsynonymous SNV NM_153461 exon1 c.G167A p.S56N 0.00399361 0.0198 0.0010 0.0134 1 N -1.007 T 0.001 T 0.001 T Pathogenic 3_9962816_A->G 3 9962816 9962816 A G snp 319.78 1/1 24 12 0 12 1.0 intronic rs376511 IL17RC AR NM_001203263 exon7 c.3654+163A>G 0.587859 0.9048 Uncertain 3_9969933_GG->- 3 9969933 9969934 GG - indel 7443.73 1/1 99 151 0 151 1.0 intronic rs57179462 IL17RC AR NM_001203263 exon10 c.10905+29_10905+30delGG 0.617812 0.9236 0.447293 0.4593 0.9139 Uncertain 3_9970031_A->G 3 9970031 9970031 A G snp 5455.77 1/1 99 200 0 200 1.0 exonic rs279549 IL17RC AR nonsynonymous SNV NM_153461 exon11 c.A1133G p.Q378R 0.997404 1 0.995386 0.9957 0.9999 1 T 0.0 P -0.971 T 0.0 T 0.001 T Pathogenic 3_9972493_G->A 3 9972493 9972493 G A snp 2538.77 1/1 99 86 1 85 0.99 intronic rs279545 IL17RC AR NM_001203263 exon16 c.13579-85G>A 0.622204 0.8462 Uncertain 3_9975247_C->G 3 9975247 9975247 C G snp 1261.77 1/1 93 43 0 43 1.0 exonic rs183956 IL17RC AR synonymous SNV NM_153461 exon19 c.C2346G p.G782G 0.98722 0.999 0.987961 0.9896 0.9972 Uncertain 3_9976159_A->G 3 9976159 9976159 A G snp 2337.77 1/1 99 82 0 82 1.0 exonic rs279552 CRELD1 AD nonsynonymous SNV NM_015513 exon1 c.A37G p.M13V 0.995607 1 0.991465 0.9916 0.9999 0.6 T 0.0 P -1.007 T 0.0 T 0.0 T CLINSIG=non-pathogenic;CLNDBN=not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000124609.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Pathogenic 3_9991388_G->C 3 9991388 9991388 G C snp 7075.77 1/1 99 250 0 250 1.0 exonic rs279601 PRRT3 AU nonsynonymous SNV NM_207351 exon2 c.C412G p.Q138E 0.967053 0.9663 0.980550 0.9633 0.9652 0.0 P -0.989 T 0.0 T 0.0 T Pathogenic 3_10085035_G->T 3 10085035 10085035 G T snp 434.77 1/1 33 13 0 13 1.0 intronic rs803335 FANCD2 AR NM_033084 exon13 c.14826-132G>T 0.952476 0.999 Uncertain 3_10088223_T->G 3 10088223 10088223 T G snp 91.77 0/1 99 65 57 8 0.12 intronic rs200221245 FANCD2 AR NM_033084 exon15 c.17922-40T>G 0.0352 0.0291 Uncertain 3_10088239_G->A 3 10088239 10088239 G A snp 115.77 0/1 99 80 69 11 0.14 intronic rs201770712 FANCD2 AR NM_033084 exon15 c.17922-24G>A 0.1658 0.1437 Uncertain 3_10088242_G->A 3 10088242 10088242 G A snp 118.77 0/1 99 80 70 10 0.13 intronic rs199726231 FANCD2 AR NM_033084 exon15 c.17922-21G>A 0.1691 0.1457 Uncertain 3_10088266_G->T 3 10088266 10088266 G T snp 126.77 0/1 99 100 86 14 0.14 exonic rs72492997 FANCD2 AR synonymous SNV NM_033084 exon15 c.G1137T p.V379V 0.3745 0.3431 Uncertain 3_10088299_C->T 3 10088299 10088299 C T snp 189.77 0/1 99 119 100 19 0.16 exonic rs112887807 FANCD2 AR synonymous SNV NM_033084 exon15 c.C1170T p.S390S 0.4304 0.4149 Uncertain 3_10088308_T->C 3 10088308 10088308 T C snp 180.77 0/1 99 126 107 19 0.15 exonic rs72492998 FANCD2 AR synonymous SNV NM_033084 exon15 c.T1179C p.T393T 0.4331 0.4166 Uncertain 3_10088343_A->G 3 10088343 10088343 A G snp 167.77 0/1 99 116 98 18 0.16 exonic rs73126218 FANCD2 AR nonsynonymous SNV NM_033084 exon15 c.A1214G p.N405S 0.4201 0.4034 0.71 T 0.999 N -0.975 T 0.022 T 0.023 T Pathogenic 3_10088404_C->T 3 10088404 10088404 C T snp 88.77 0/1 99 66 56 10 0.15 exonic rs764447374 FANCD2 AR synonymous SNV NM_033084 exon15 c.C1275T p.Y425Y 0.0674 0.0494 Uncertain 3_10088412_G->T 3 10088412 10088412 G T snp 59.77 0/1 88 57 49 8 0.14 splicing FANCD2 AR NM_033084 exon15 c.18066+5G>T Pathogenic 3_10088422_C->T 3 10088422 10088422 C T snp 74.77 0/1 99 51 43 8 0.16 intronic rs144167368 FANCD2 AR NM_033084 exon15 c.18066+15C>T 0.0358 0.0191 Uncertain 3_10089723_G->A 3 10089723 10089723 G A snp 287.77 0/1 99 84 64 20 0.24 exonic rs12330369 FANCD2 AR synonymous SNV NM_033084 exon16 c.G1401A p.T467T 0.4495 0.4213 Uncertain 3_10089738_A->G 3 10089738 10089738 A G snp 240.77 0/1 99 87 70 17 0.2 splicing rs62245508 FANCD2 AR NM_033084 exon16 c.19394+3A>G 0.4417 0.4112 Pathogenic 3_10089749_T->C 3 10089749 10089749 T C snp 252.77 0/1 99 88 70 18 0.2 intronic rs12330599 FANCD2 AR NM_033084 exon16 c.19394+14T>C 0.4307 0.3939 Uncertain 3_10089772_C->G 3 10089772 10089772 C G snp 215.77 0/1 99 83 67 16 0.19 intronic rs79830642 FANCD2 AR NM_033084 exon16 c.19394+37C>G 0.4090 0.3685 Uncertain 3_10089773_A->G 3 10089773 10089773 A G snp 179.77 0/1 99 82 65 17 0.21 intronic rs7615646 FANCD2 AR NM_033084 exon16 c.19394+38A>G 0.3152 0.3282 Uncertain 3_10089775_A->G 3 10089775 10089775 A G snp 185.77 0/1 99 81 66 15 0.19 intronic rs75389047 FANCD2 AR NM_033084 exon16 c.19394+40A>G 0.4104 0.3706 Uncertain 3_10089815_A->C 3 10089815 10089815 A C snp 121.77 0/1 99 60 49 11 0.18 intronic rs77169020 FANCD2 AR NM_033084 exon16 c.19394+80A>C Uncertain 3_10089818_C->T 3 10089818 10089818 C T snp 126.77 0/1 99 58 47 11 0.19 intronic rs78988497 FANCD2 AR NM_033084 exon16 c.19394+83C>T Uncertain 3_10089828_G->A 3 10089828 10089828 G A snp 130.77 0/1 99 53 44 9 0.17 intronic rs77263972 FANCD2 AR NM_033084 exon16 c.19394+93G>A Uncertain 3_10089834_A->T 3 10089834 10089834 A T snp 130.77 0/1 99 47 38 9 0.19 intronic rs74351786 FANCD2 AR NM_033084 exon16 c.19394+99A>T Uncertain 3_10089841_C->A 3 10089841 10089841 C A snp 99.77 0/1 99 43 35 8 0.19 intronic rs74509181 FANCD2 AR NM_033084 exon16 c.19394+106C>A Uncertain 3_10089852_A->G 3 10089852 10089852 A G snp 34.77 0/1 63 28 25 3 0.11 intronic rs75274508 FANCD2 AR NM_033084 exon16 c.19394+117A>G Uncertain 3_10106144_C->T 3 10106144 10106144 C T snp 424.77 0/1 99 124 87 37 0.3 intronic rs3864015 FANCD2 AR NM_033084 exon22 c.35772+31C>T 0.0121 0.0159 Uncertain 3_10106408_C->T 3 10106408 10106408 C T snp 229.77 0/1 99 84 69 15 0.18 splicing rs4019784 FANCD2 AR NM_033084 exon23 c.36071-4C>T 0.0023 0.0058 Pathogenic 3_10106608_T->C 3 10106608 10106608 T C snp 93.77 0/1 99 69 62 7 0.1 intronic rs4019785 FANCD2 AR NM_033084 exon23 c.36218+49T>C 0.0935 0.1710 Uncertain 3_10186447_A->T 3 10186447 10186447 A T snp 140.03 1/1 12 6 0 6 1.0 intronic rs1678593 VHL AR,AD,AU NM_000551 exon2 c.4666-1750A>T 0.54393 0.8175 Uncertain 3_10188428_T->G 3 10188428 10188428 T G snp 1436.77 1/1 99 46 0 46 1.0 intronic rs1678607 VHL AR,AD,AU NM_000551 exon2 c.4789+108T>G 0.849042 0.8224 Uncertain 3_10189929_T->C 3 10189929 10189929 T C snp 1064.77 1/1 78 47 0 47 1.0 intronic rs1681660 VHL AR,AD,AU NM_000551 exon3 c.7939-1541T>C 0.877796 0.8879 Uncertain 3_10241899_G->A 3 10241899 10241899 G A snp 50.74 1/1 6 2 0 2 1.0 intronic rs263409 IRAK2 AU NM_001570 exon3 c.35414-153G>A 0.889776 0.8512 Uncertain 3_10264299_C->T 3 10264299 10264299 C T snp 6188.77 1/1 99 229 0 229 1.0 intronic rs813591 IRAK2 AU NM_001570 exon9 c.57681-20C>T 0.373203 0.6399 0.194526 0.2553 0.6742 Uncertain 3_10268017_C->T 3 10268017 10268017 C T snp 1407.77 1/1 99 45 0 45 1.0 intronic rs779905 IRAK2 AU NM_001570 exon10 c.61416-37C>T 0.365016 0.622 0.193769 0.2532 0.6576 Uncertain 3_10276163_T->A 3 10276163 10276163 T A snp 7411.77 1/1 99 249 0 249 1.0 exonic rs708035 IRAK2 AU nonsynonymous SNV NM_001570 exon11 c.T1293A p.D431E 0.827077 0.9901 0.677764 0.7264 0.9960 1 T 0.000 P -0.985 T 0.0 T 0.0 T ID=CM147391;DIS=Increased NF-?B activity;TAG=FP;PUB=24662294 FP Pathogenic 3_10280233_C->T 3 10280233 10280233 C T snp 54.74 1/1 6 2 0 2 1.0 intronic rs778044 IRAK2 AU NM_001570 exon12 c.73793-198C>T 0.823682 0.9901 Uncertain 3_10280469_G->A 3 10280469 10280469 G A snp 2663.77 0/1 99 250 149 101 0.4 exonic rs202117175 IRAK2 AU nonsynonymous SNV NM_001570 exon12 c.G1511A p.R504Q 0.00119808 0.006 0.0004 0.0055 1 T 1 N -1.003 T 0.954 T 0.336 D Pathogenic 3_10283716_A->G 3 10283716 10283716 A G snp 649.77 1/1 51 18 0 18 1.0 intronic rs796552 IRAK2 AU NM_001570 exon13 c.77161-83A>G 0.821486 0.9901 Uncertain 3_10302172_G->A 3 10302172 10302172 G A snp 2984.77 1/1 99 112 0 112 1.0 exonic rs394558 TATDN2 AU nonsynonymous SNV NM_014760 exon3 c.G766A p.V256I 0.596246 0.9643 0.393126 0.5061 0.9808 0.75 T 0.0 P -0.946 T 0.027 T 0.006 T Pathogenic 3_10302369_T->C 3 10302369 10302369 T C snp 1349.77 1/1 96 46 0 46 1.0 intronic rs451952 TATDN2 AU NM_014760 exon3 c.11470+15T>C 0.596246 0.9643 0.387687 0.5108 0.9811 Uncertain 3_10302395_G->C 3 10302395 10302395 G C snp 934.77 1/1 69 31 0 31 1.0 intronic rs439483 TATDN2 AU NM_014760 exon3 c.11470+41G>C 0.699481 0.9643 0.515654 0.5345 0.9813 Uncertain 3_10302479_G->A 3 10302479 10302479 G A snp 261.8 1/1 21 7 0 7 1.0 intronic rs402330 TATDN2 AU NM_014760 exon3 c.11470+125G>A 0.978634 0.998 Uncertain 3_10311773_A->G 3 10311773 10311773 A G snp 292.77 0/1 99 17 8 9 0.53 intronic rs715827 TATDN2 AU NM_014760 exon4 c.20930-41A>G 0.357827 0.6617 0.145779 0.2697 0.6977 Uncertain 3_10311939_C->T 3 10311939 10311939 C T snp 2769.77 0/1 99 236 119 117 0.5 exonic rs2075352 TATDN2 AU nonsynonymous SNV NM_014760 exon4 c.C1073T p.P358L 0.179313 0.2768 0.146548 0.1253 0.2636 0.14 T 0.124 P -1.070 T 0.154 T 0.006 T Pathogenic 3_10312507_A->G 3 10312507 10312507 A G snp 3268.77 0/1 99 246 119 127 0.52 exonic rs2075353 TATDN2 AU synonymous SNV NM_014760 exon4 c.A1641G p.L547L 0.111821 0.2857 0.072121 0.1059 0.2783 Uncertain 3_10318230_-->T 3 10318230 10318230 - T indel 1254.73 0/1 99 65 28 37 0.57 intronic rs3217211 TATDN2 AU NM_014760 exon5 c.27288+58insT 0.323283 0.3046 Uncertain 3_10320865_A->G 3 10320865 10320865 A G snp 606.77 0/1 99 50 28 22 0.44 intronic rs2075355 TATDN2 AU NM_014760 exon8 c.30020-39A>G 0.676717 0.6964 0.631187 Uncertain 3_10328250_A->C 3 10328250 10328250 A C snp 980.77 1/1 72 33 0 33 1.0 ncRNA_intronic rs35683 GHRLOS AU 0.730032 0.9702 Uncertain 3_10331457_G->T 3 10331457 10331457 G T snp 926.77 0/1 99 69 30 39 0.57 exonic rs696217 GHRL AR,AD,AO nonsynonymous SNV NM_016362 exon4 c.C214A p.L72M 0.0832668 0.1915 0.058819 0.0856 0.1930 0.13 T 0.018 P -1.041 T 1.0 D 0.999 D CLINSIG=pathogenic|other;CLNDBN=Obesity\x2c_age_at_onset_of|Metabolic_syndrome\x2c_susceptibility_to;CLNREVSTAT=no_assertion_criteria_provided|no_assertion_criteria_provided;CLNACC=RCV000005365.1|RCV000005366.1;CLNDSDB=.|.;CLNDSDBID=.|. ID=CM012815;DIS=Obesity, early onset, association with;TAG=DP;PUB=11502844 DP Pathogenic 3_10342876_C->T 3 10342876 10342876 C T snp 4428.77 1/1 99 154 0 154 1.0 UTR3 rs696221 SEC13 AU 0.770767 0.9762 0.590164 0.6455 0.9849 Uncertain 3_10345527_G->A 3 10345527 10345527 G A snp 387.77 0/1 99 18 4 14 0.78 intronic rs697232 SEC13 AU NM_001136232 exon2 c.2765-182G>A 0.154752 0.3889 Uncertain 3_10347547_AACAGT->- 3 10347547 10347552 AACAGT - indel 406.73 0/1 99 11 6 5 0.45 intronic rs3835090 SEC13 AU NM_001136232 exon4 c.4432+171_4432+176delAACAGT 0.148962 0.3889 Uncertain 3_10354975_G->A 3 10354975 10354975 G A snp 488.77 0/1 99 37 18 19 0.51 intronic rs116948267 SEC13 AU NM_001136232 exon6 c.11470+561G>A 0.00519169 0.0258 Uncertain 3_10359628_T->A 3 10359628 10359628 T A snp 384.77 0/1 99 27 11 16 0.59 intronic rs1642977 SEC13 AU NM_001136232 exon8 c.16789-105T>A 0.15655 0.3929 Uncertain 3_10370486_G->C 3 10370486 10370486 G C snp 4091.77 1/1 99 141 0 141 1.0 UTR3 rs4327369 ATP2B2 AR 0.46226 0.6071 0.311241 0.3496 0.5960 Uncertain 3_10379923_C->T 3 10379923 10379923 C T snp 4164.77 1/1 99 156 0 156 1.0 exonic rs35678 ATP2B2 AR synonymous SNV NM_001683 exon19 c.G3222A p.A1074A 0.567891 0.5407 0.456328 0.4870 0.5585 Uncertain 3_10382111_T->C 3 10382111 10382111 T C snp 4996.77 1/1 99 173 0 173 1.0 intronic rs171337 ATP2B2 AR NM_001683 exon4 c.11679-65T>C 0.758986 0.8849 Uncertain 3_10382148_G->A 3 10382148 10382148 G A snp 5791.77 1/1 99 214 1 213 1.0 intronic rs154242 ATP2B2 AR NM_001683 exon4 c.11679-28G>A 0.758586 0.8849 0.614793 0.6624 0.8856 Uncertain 3_10382537_T->G 3 10382537 10382537 T G snp 93.28 1/1 9 3 0 3 1.0 intronic rs709640 ATP2B2 AR NM_001683 exon4 c.11891+149T>G 0.596446 0.5486 Uncertain 3_10387059_C->A 3 10387059 10387059 C A snp 4728.77 1/1 99 168 0 168 1.0 intronic rs241509 ATP2B2 AR NM_001683 exon6 c.16570-8C>A 0.406749 0.497 0.331078 0.4444 0.5208 Uncertain 3_10396988_T->C 3 10396988 10396988 T C snp 218.84 1/1 18 6 0 6 1.0 intronic rs3774180 ATP2B2 AR NM_001683 exon10 c.29877-3386T>C 0.441893 0.4921 Uncertain 3_10400231_T->C 3 10400231 10400231 T C snp 139.03 1/1 12 4 0 4 1.0 intronic rs3774178 ATP2B2 AR NM_001683 exon10 c.29877-143T>C 0.375399 0.4643 Uncertain 3_10400643_G->A 3 10400643 10400643 G A snp 1824.77 1/1 99 64 0 64 1.0 intronic rs28113 ATP2B2 AR NM_001683 exon10 c.30112+34G>A 0.677316 0.9514 0.498230 0.6455 0.9573 Uncertain 3_10401856_G->T 3 10401856 10401856 G T snp 470.77 1/1 36 14 0 14 1.0 intronic rs2278554 ATP2B2 AR NM_001683 exon11 c.31310+49G>T 0.402756 0.5159 0.284641 0.4149 0.5445 Uncertain 3_10420875_G->A 3 10420875 10420875 G A snp 2397.77 1/1 99 71 0 71 1.0 intronic rs4684686 ATP2B2 AR NM_001001331 exon15 c.50429-51G>A 0.410343 0.6538 0.296311 Uncertain 3_10427190_C->T 3 10427190 10427190 C T snp 307.78 1/1 24 9 0 9 1.0 intronic rs725027 ATP2B2 AR NM_001001331 exon16 c.56514+179C>T 0.658546 0.9712 Uncertain 3_10436016_C->T 3 10436016 10436016 C T snp 50.74 1/1 6 2 0 2 1.0 intronic rs9858979 ATP2B2 AR NM_001683 exon15 c.59589+5930C>T 0.60623 0.9613 Uncertain 3_10452231_G->A 3 10452231 10452231 G A snp 957.77 1/1 72 30 0 30 1.0 intronic rs34907 ATP2B2 AR NM_001683 exon18 c.81804-70G>A 0.560903 0.9643 Uncertain 3_10885787_G->A 3 10885787 10885787 G A snp 117.77 0/1 66 6 2 4 0.67 intronic rs2304724 SLC6A11 AU NM_014229 exon5 c.27948-111G>A 0.193091 0.2688 Uncertain 3_10885920_T->C 3 10885920 10885920 T C snp 1785.77 0/1 99 138 64 74 0.54 exonic rs2304725 SLC6A11 AU synonymous SNV NM_014229 exon5 c.T645C p.S215S 0.374201 0.4276 0.327695 0.3482 0.4546 Uncertain 3_10967712_G->A 3 10967712 10967712 G A snp 1591.77 0/1 99 130 63 67 0.52 exonic rs2272394 SLC6A11 AU synonymous SNV NM_014229 exon9 c.G1143A p.A381A 0.0529153 0.1687 0.008073 0.0292 0.1589 Uncertain 3_10975745_C->T 3 10975745 10975745 C T snp 2167.77 0/1 99 198 101 97 0.49 intronic rs2272399 SLC6A11 AU NM_014229 exon12 c.117801-6C>T 0.350839 0.5813 0.294326 0.3352 0.5840 Uncertain 3_10980152_G->A 3 10980152 10980152 G A snp 979.77 0/1 99 110 63 47 0.43 downstream rs181652480 SLC6A11 AU 0.000599042 0.003 Uncertain 3_11060324_C->T 3 11060324 11060324 C T snp 1392.77 0/1 99 107 48 59 0.55 exonic rs148429200 SLC6A1 AD synonymous SNV NM_003042 exon5 c.C411T p.N137N 0.00239617 0.0089 0.000077 0.0023 0.0183 Uncertain 3_11062062_C->T 3 11062062 11062062 C T snp 1293.77 0/1 99 99 51 48 0.48 intronic rs3774070 SLC6A1 AD NM_003042 exon6 c.3111+54C>T 0.210663 0.131 Uncertain 3_11070543_C->- 3 11070543 11070543 C - indel 299.73 0/1 99 55 31 24 0.44 intronic rs11290120 SLC6A1 AD NM_003042 exon11 c.11636+10delC 0.254992 0.3482 0.182639 0.1279 0.3681 Uncertain 3_11075461_G->A 3 11075461 11075461 G A snp 408.77 0/1 99 32 15 17 0.53 intronic rs2272402 SLC6A1 AD NM_003042 exon14 c.16528+36G>A 0.0391374 0.0853 0.008381 0.0157 0.0712 Uncertain 3_11075503_T->C 3 11075503 11075503 T C snp 430.77 1/1 33 12 0 12 1.0 intronic rs2246543 SLC6A1 AD NM_003042 exon14 c.16528+78T>C 0.698283 0.8056 Uncertain 3_11076509_G->C 3 11076509 11076509 G C snp 581.77 0/1 99 39 19 20 0.51 intronic rs58053962 SLC6A1 AD NM_003042 exon15 c.17487+125G>C 0.0333466 0.0823 Uncertain 3_11300707_T->C 3 11300707 11300707 T C snp 2262.77 1/1 99 81 0 81 1.0 UTR5 rs901865 HRH1 AU 0.823083 0.9117 0.778333 0.8426 0.9327 Uncertain 3_11350553_C->T 3 11350553 11350553 C T snp 6486.77 1/1 99 236 0 236 1.0 intronic rs2305686 ATG7 AU NM_006395 exon5 c.10366+18C>T 0.268371 0.2877 0.163386 0.2390 0.2953 Uncertain 3_11381973_A->C 3 11381973 11381973 A C snp 90.28 1/1 9 3 0 3 1.0 intronic rs3816380 ATG7 AU NM_006395 exon10 c.41949-145A>C 0.271765 0.2956 Uncertain 3_11487891_G->A 3 11487891 11487891 G A snp 964.77 1/1 72 30 0 30 1.0 intronic rs2442798 ATG7 AU NM_006395 exon18 c.128231+19491G>A 0.277556 0.2907 Uncertain 3_11596348_C->T 3 11596348 11596348 C T snp 6883.77 1/1 99 242 0 242 1.0 UTR3 rs14016 ATG7 AU 0.281949 0.4018 0.155697 0.2085 0.3980 Uncertain 3_11599940_A->C 3 11599940 11599940 A C snp 71.77 0/1 54 12 5 7 0.58 UTR3 VGLL4 AU Uncertain 3_11643465_T->C 3 11643465 11643465 T C snp 807.77 1/1 60 26 0 26 1.0 exonic rs2276749 VGLL4 AU nonsynonymous SNV NM_001128219 exon2 c.A114G p.I38M 0.929513 0.9444 0.964324 0.9276 0.9492 1 T 0.034 P -0.924 T 0.002 T 0.001 T Pathogenic 3_11667714_C->T 3 11667714 11667714 C T snp 1491.77 1/1 99 42 0 42 1.0 intronic rs3856802 VGLL4 AU NM_001128219 exon5 c.84881-17196C>T 0.315895 0.4028 Uncertain 3_11685143_-->A 3 11685143 11685143 - A indel 82.74 0/1 27 11 2 9 0.82 UTR5 rs34152653 VGLL4 AU 0.420128 0.5 Uncertain 3_11744544_-->A 3 11744544 11744544 - A indel 1390.73 1/1 99 50 0 50 1.0 intronic rs11411195 VGLL4 AU NM_014667 exon5 c.144492+23insA 0.684105 0.5446 0.731974 0.6770 0.5445 Uncertain 3_11744584_C->T 3 11744584 11744584 C T snp 268.77 0/1 99 21 10 11 0.52 intronic rs6781438 VGLL4 AU NM_014667 exon5 c.144492+63C>T 0.3752 0.3204 Uncertain 3_11831953_C->T 3 11831953 11831953 C T snp 496.77 0/1 99 40 18 22 0.55 UTR3 rs9267 TAMM41 AU 0.236022 0.1716 0.283100 0.3281 0.1749 Uncertain 3_11848874_G->C 3 11848874 11848874 G C snp 575.77 0/1 99 59 33 26 0.44 intronic rs3796330 TAMM41 AU NM_001284401 exon2 c.17328-432G>C 0.104433 0.1696 0.2463 0.2208 Uncertain 3_11848924_CACT->- 3 11848924 11848927 CACT - indel 3388.73 0/1 99 90 41 49 0.54 intronic rs144166965 TAMM41 AU NM_001284401 exon2 c.17328-382_17328-379delCACT 0.227436 0.4504 0.1176 0.4731 Uncertain 3_11880760_T->C 3 11880760 11880760 T C snp 791.77 0/1 99 95 57 38 0.4 exonic TAMM41 AU nonsynonymous SNV NM_001284401 exon3 c.A347G p.N116S 0.186302 0.2381 0.131708 0.1366 0.2229 0.4 T 0.0 P -0.947 T 0.009 T 0.023 T Pathogenic 3_11880816_C->A 3 11880816 11880816 C A snp 505.77 0/1 99 30 10 20 0.67 intronic TAMM41 AU NM_001284401 exon6 c.48810+28C>A 0.545927 0.6121 0.556282 0.5530 0.6618 Uncertain 3_11885720_T->G 3 11885720 11885720 T G snp 713.77 0/1 99 41 17 24 0.59 intronic TAMM41 AU NM_001284401 exon7 c.53707+35T>G 0.0425319 0.1329 0.017453 0.0158 0.1393 Uncertain 3_11912635_C->T 3 11912635 11912635 C T snp 80.77 0/1 99 6 3 3 0.5 intergenic rs6772434 TAMM41 AU 0.227835 0.3403 Uncertain 3_11912797_C->T 3 11912797 11912797 C T snp 1182.77 0/1 99 150 79 71 0.47 intergenic rs445387 TAMM41 AU 0.602236 0.5764 Uncertain 3_11924614_G->- 3 11924614 11924614 G - indel 2023.73 1/1 99 50 0 50 1.0 intergenic rs57481387 TAMM41 AU 1 1 Uncertain 3_11924823_T->C 3 11924823 11924823 T C snp 41.77 0/1 66 4 2 2 0.5 intergenic rs118158769 TAMM41 AU 0.00798722 0.0317 Uncertain 3_11925383_A->G 3 11925383 11925383 A G snp 46.77 0/1 31 3 1 2 0.67 intergenic rs3864016 TAMM41 AU 0.309505 0.4107 Uncertain 3_11925545_T->C 3 11925545 11925545 T C snp 68.77 0/1 97 77 64 13 0.17 intergenic rs28682978 TAMM41 AU 0.276957 0.3869 Uncertain 3_11925610_C->T 3 11925610 11925610 C T snp 118.77 0/1 99 54 41 13 0.24 intergenic rs421090 TAMM41 AU 0.46905 0.4196 Uncertain 3_12045850_G->C 3 12045850 12045850 G C snp 136.03 1/1 12 4 0 4 1.0 UTR5 rs62240360 SYN2 AD 1 1 Uncertain 3_12045864_A->T 3 12045864 12045864 A T snp 176.9 1/1 15 6 0 6 1.0 UTR5 rs80251534 SYN2 AD 1 1 Uncertain 3_12045891_T->C 3 12045891 12045891 T C snp 434.77 1/1 33 12 0 12 1.0 UTR5 rs79624759 SYN2 AD 1 1 Uncertain 3_12045899_C->T 3 12045899 12045899 C T snp 603.77 1/1 45 17 0 17 1.0 UTR5 rs77368781 SYN2 AD 1 1 Uncertain 3_12045923_A->C 3 12045923 12045923 A C snp 1094.77 1/1 81 33 0 33 1.0 UTR5 rs73135622 SYN2 AD 0.9998 1 Uncertain 3_12045986_G->A 3 12045986 12045986 G A snp 2458.77 1/1 99 105 1 104 0.99 UTR5 rs67270413 SYN2 AD 1 1 0.9999 1 Uncertain 3_12046013_A->C 3 12046013 12046013 A C snp 2847.77 1/1 99 115 0 115 1.0 UTR5 rs72624441 SYN2 AD 1 1 1.0000 1 Uncertain 3_12046076_T->C 3 12046076 12046076 T C snp 2589.77 1/1 99 97 0 97 1.0 exonic rs2618395 SYN2 AD unknown 1 1 1.0000 1 Uncertain 3_12046131_A->C 3 12046131 12046131 A C snp 1007.77 1/1 72 37 0 37 1.0 exonic rs74213196 SYN2 AD unknown 0.9997 1 Uncertain 3_12046148_C->T 3 12046148 12046148 C T snp 669.77 1/1 51 27 0 27 1.0 exonic rs2623874 SYN2 AD unknown 1 1 0.9966 1 Uncertain 3_12046168_A->C 3 12046168 12046168 A C snp 432.77 1/1 33 14 0 14 1.0 exonic rs2623875 SYN2 AD unknown 1 . Uncertain 3_12046196_A->C 3 12046196 12046196 A C snp 398.77 1/1 30 12 0 12 1.0 exonic rs2600233 SYN2 AD unknown 1 . Uncertain 3_12046207_C->G 3 12046207 12046207 C G snp 392.77 1/1 30 12 0 12 1.0 exonic rs2600234 SYN2 AD unknown 1 . Uncertain 3_12046215_G->C 3 12046215 12046215 G C snp 227.84 1/1 18 7 0 7 1.0 exonic rs2623876 SYN2 AD unknown 0 . Uncertain 3_12046222_A->C 3 12046222 12046222 A C snp 227.84 1/1 18 7 0 7 1.0 exonic rs71624921 SYN2 AD unknown 0 . Uncertain 3_12046263_C->A 3 12046263 12046263 C A snp 59.74 1/1 6 3 0 3 1.0 splicing SYN2 AD NM_003178 exon2 c.239-1C>A Pathogenic 3_12046264_C->G 3 12046264 12046264 C G snp 59.74 1/1 6 3 0 3 1.0 splicing SYN2 AD NM_003178 exon2 c.239C>G Pathogenic 3_12046272_G->C 3 12046272 12046272 G C snp 59.74 1/1 6 3 0 3 1.0 exonic SYN2 AD unknown Uncertain 3_12046273_A->G 3 12046273 12046273 A G snp 59.74 1/1 6 3 0 3 1.0 exonic SYN2 AD unknown Uncertain 3_12046276_A->G 3 12046276 12046276 A G snp 59.74 1/1 6 3 0 3 1.0 exonic rs71624922 SYN2 AD unknown 0 . Uncertain 3_12046297_A->C 3 12046297 12046297 A C snp 492.77 1/1 36 20 0 20 1.0 exonic rs71624923 SYN2 AD unknown 1 1 1 . 0 D 0.001 P -1.073 T 0.0 T 0.0 T Uncertain 3_12046318_G->C 3 12046318 12046318 G C snp 530.77 1/1 39 24 0 24 1.0 exonic rs2923854 SYN2 AD unknown 1 1 1 1 Uncertain 3_12046321_A->G 3 12046321 12046321 A G snp 579.77 1/1 42 25 0 25 1.0 exonic rs2923855 SYN2 AD unknown 1 1 1 1 Uncertain 3_12046362_G->C 3 12046362 12046362 G C snp 588.77 1/1 42 25 0 25 1.0 exonic rs2923856 SYN2 AD unknown 1 1 1 1 0 D 0.0 P -1.049 T 0.0 T 0.0 T Uncertain 3_12046364_G->C 3 12046364 12046364 G C snp 590.77 1/1 42 25 0 25 1.0 exonic rs2923857 SYN2 AD unknown 0.926318 0.9762 0.8933 0.9479 0 D 0.0 P -1.011 T 0.0 T 0.0 T Uncertain 3_12046372_G->C 3 12046372 12046372 G C snp 615.77 1/1 45 26 0 26 1.0 exonic rs2623877 SYN2 AD unknown 1 1 0.9998 1 Uncertain 3_12046445_T->G 3 12046445 12046445 T G snp 356.78 1/1 27 11 0 11 1.0 intronic rs2600235 SYN2 AD NM_003178 exon2 c.403+17T>G 0.926318 0.9762 0.8923 0.9643 Uncertain 3_12046446_T->C 3 12046446 12046446 T C snp 351.78 1/1 27 10 0 10 1.0 intronic rs2623879 SYN2 AD NM_003178 exon2 c.403+18T>C 0.926318 0.9762 0.8954 0.9643 Uncertain 3_12195622_A->G 3 12195622 12195622 A G snp 108.77 0/1 99 8 4 4 0.5 intronic rs308952 SYN2 AD NM_003178 exon6 c.146801+2796A>G 0.815495 0.8165 Uncertain 3_12195674_A->G 3 12195674 12195674 A G snp 727.77 0/1 99 41 18 23 0.56 intronic rs3817004 SYN2 AD NM_003178 exon6 c.146801+2848A>G 0.108826 0.1845 Uncertain 3_12202866_C->G 3 12202866 12202866 C G snp 382.77 0/1 99 24 10 14 0.58 intronic rs308950 SYN2 AD NM_003178 exon7 c.157020-179C>G 0.813299 0.8165 Uncertain 3_12208652_A->G 3 12208652 12208652 A G snp 1075.77 1/1 78 35 0 35 1.0 intronic rs795008 SYN2 AD NM_003178 exon9 c.162708-81A>G 0.996006 1 Uncertain 3_12208671_G->T 3 12208671 12208671 G T snp 431.77 0/1 99 47 28 19 0.4 intronic rs795009 SYN2 AD NM_003178 exon9 c.162708-62G>T 0.720447 0.6964 0.707184 Uncertain 3_12210132_C->T 3 12210132 12210132 C T snp 850.77 0/1 99 56 25 31 0.55 intronic rs11916408 SYN2 AD NM_003178 exon10 c.163953+154C>T 0.144968 0.1825 Uncertain 3_12210153_A->G 3 12210153 12210153 A G snp 665.77 0/1 99 37 15 22 0.59 intronic rs11924163 SYN2 AD NM_003178 exon10 c.163953+175A>G 0.145168 0.1835 Uncertain 3_12211046_G->T 3 12211046 12211046 G T snp 120.77 0/1 64 6 2 4 0.67 intronic rs795011 SYN2 AD NM_003178 exon11 c.165231-210G>T 0.617412 0.6954 Uncertain 3_12211048_T->C 3 12211048 12211048 T C snp 37.77 0/1 66 6 4 2 0.33 intronic rs9844367 SYN2 AD NM_003178 exon11 c.165231-208T>C 0.145966 0.1845 Uncertain 3_12229015_A->G 3 12229015 12229015 A G snp 1278.77 0/1 99 119 58 61 0.51 exonic rs794999 SYN2 AD unknown 0.688898 0.6984 0.706228 0.7597 0.7136 0 D 0.001 P -1.031 T 0.002 T 0.002 T Uncertain 3_12232074_A->G 3 12232074 12232074 A G snp 2299.77 1/1 99 82 0 82 1.0 exonic rs310764 SYN2 AD unknown 0.961062 1 0.925264 0.9328 0.9999 Uncertain 3_12232208_T->G 3 12232208 12232208 T G snp 471.77 1/1 36 14 0 14 1.0 UTR3 rs310765 SYN2 AD 0.961861 1 Uncertain 3_12317740_AAGGGAGGAAGGA->- 3 12317740 12317752 AAGGGAGGAAGGA - indel 15235.7 1/1 99 113 0 113 1.0 intergenic rs151229409 SYN2 AD Uncertain 3_12447814_C->G 3 12447814 12447814 C G snp 342.78 1/1 27 9 0 9 1.0 intronic rs1797895 PPARG AU,AD,AO,AR NM_015869 exon5 c.54489+234C>G 1 1 Uncertain 3_12475557_C->T 3 12475557 12475557 C T snp 990.77 0/1 99 99 52 47 0.47 exonic rs3856806 PPARG AU,AD,AO,AR synonymous SNV NM_015869 exon7 c.C1431T p.H477H 0.126597 0.2113 0.106643 0.1340 0.2388 CLINSIG=non-pathogenic|probable-non-pathogenic;CLNDBN=Glioma_susceptibility_1|not_specified;CLNREVSTAT=no_assertion_criteria_provided|no_assertion_criteria_provided;CLNACC=RCV000008615.2|RCV000118043.2;CLNDSDB=MedGen:OMIM:Orphanet:Orphanet|MedGen;CLNDSDBID=C2750850:137800:ORPHA360:ORPHA94|CN169374 ID=CM994587;DIS=Increased plasma leptin levels in obesity, association;TAG=DP;PUB=9467001 DP Uncertain 3_12616533_G->A 3 12616533 12616533 G A snp 1443.77 1/1 99 48 1 47 0.98 intronic rs3773341 MKRN2 AU NM_014160 exon5 c.17856+28G>A 0.497204 0.5605 0.369983 0.3722 0.5886 Uncertain 3_12627117_A->- 3 12627117 12627117 A - indel 2257.73 0/1 99 102 38 64 0.63 intronic RAF1 AU,AD NM_002880 exon4 c.1167-62delA Uncertain 3_12650482_T->A 3 12650482 12650482 T A snp 2077.77 1/1 99 71 0 71 1.0 intronic rs2454440 RAF1 AU,AD NM_002880 exon13 c.24410+60T>A 1 1 Uncertain 3_12660291_C->T 3 12660291 12660291 C T snp 1948.77 1/1 99 67 0 67 1.0 intronic rs3729926 RAF1 AU,AD NM_002880 exon16 c.34234+45C>T 0.91254 0.9425 Uncertain 3_12779409_A->G 3 12779409 12779409 A G snp 704.77 0/1 99 44 21 23 0.52 intronic rs2271209 TMEM40 AU NM_001284407 exon5 c.2981+156A>G 0.735423 0.5109 Uncertain 3_12791172_T->C 3 12791172 12791172 T C snp 664.77 0/1 99 35 9 26 0.74 intronic rs937915 TMEM40 AU NM_001284407 exon10 c.14986-86T>C 0.537141 0.2331 Uncertain 3_12838056_G->A 3 12838056 12838056 G A snp 43.77 0/1 70 4 2 2 0.5 upstream CAND2 AU Uncertain 3_12858557_A->G 3 12858557 12858557 A G snp 1210.77 0/1 99 130 78 52 0.4 exonic rs180768267 CAND2 AU nonsynonymous SNV NM_012298 exon8 c.A1847G p.H616R 0.00978435 0.0198 0.000233 0.0055 0.0232 0.05 T 1 D -0.807 T 0.996 D 0.964 D Pathogenic 3_12872877_T->G 3 12872877 12872877 T G snp 1157.77 0/1 99 112 64 48 0.43 intronic rs9814191 CAND2 AU NM_012298 exon12 c.34744-86T>G 0.19349 0.0933 Uncertain 3_12872901_G->A 3 12872901 12872901 G A snp 1341.77 0/1 99 145 75 70 0.48 intronic rs58996323 CAND2 AU NM_012298 exon12 c.34744-62G>A 0.11901 0.0933 Uncertain 3_12873122_CTCGGCCAGTCGTT->- 3 12873122 12873135 CTCGGCCAGTCGTT - indel 2440.73 0/1 99 43 21 22 0.51 intronic rs145605538 CAND2 AU NM_012298 exon12 c.34852+51_34852+64delCTCGGCCAGTCGTT 0.11901 0.0933 0.091579 0.1035 0.0840 Uncertain 3_12877830_-->T 3 12877830 12877830 - T indel 760.73 0/1 99 45 23 22 0.49 intronic rs397712248 RPL32 AU NM_001007074 exon1 c.130+108insT 0.193291 0.0933 Uncertain 3_12880818_A->C 3 12880818 12880818 A C snp 562.77 0/1 99 86 59 27 0.31 intronic rs2290312 RPL32 AU NM_001007074 exon2 c.3255-29A>C 0.19389 0.0933 0.190604 0.1387 0.0883 Uncertain 3_12881233_A->G 3 12881233 12881233 A G snp 201.77 0/1 99 19 11 8 0.42 intronic rs3901334 RPL32 AU NM_001007074 exon2 c.3437+204A>G 0.19349 0.0933 Uncertain 3_12881757_C->T 3 12881757 12881757 C T snp 977.77 0/1 99 88 42 46 0.52 UTR5 rs7627602 RPL32 AU 0.193291 0.0933 0.189605 0.1387 0.0888 Uncertain 3_12892036_GGGAGA->- 3 12892036 12892041 GGGAGA - indel 985.73 0/1 99 26 12 14 0.54 intergenic rs143622059 RPL32 AU Uncertain 3_12941094_G->A 3 12941094 12941094 G A snp 1714.77 0/1 99 116 54 62 0.53 UTR3 rs3773308 IQSEC1 AU 0.258986 0.5546 Uncertain 3_12942328_T->C 3 12942328 12942328 T C snp 213.77 0/1 99 41 30 11 0.27 UTR3 rs3773309 IQSEC1 AU 0.124002 0.0794 0.2476 0.1389 Uncertain 3_12942851_C->- 3 12942851 12942851 C - indel 2422.73 1/1 99 62 0 62 1.0 splicing rs397988742 IQSEC1 AU NM_001134382 exon2 c.370delC 0.999060 0.9999 1 ID=COSM1593325;OCCURENCE=1(upper_aerodigestive_tract),1(endometrium) Pathogenic 3_12943094_T->C 3 12943094 12943094 T C snp 527.77 0/1 99 44 24 20 0.45 intronic rs3773310 IQSEC1 AU NM_001134382 exon2 c.541+72T>C 0.115415 0.0774 Uncertain 3_12954868_A->G 3 12954868 12954868 A G snp 1260.77 0/1 99 111 65 46 0.41 intronic rs2600322 IQSEC1 AU NM_001134382 exon7 c.12446-59A>G 0.73722 0.496 Uncertain 3_12955156_C->T 3 12955156 12955156 C T snp 203.77 0/1 55 9 2 7 0.78 intronic rs2117011 IQSEC1 AU NM_001134382 exon7 c.12572+103C>T 0.108626 0.0744 Uncertain 3_12956817_C->G 3 12956817 12956817 C G snp 803.77 0/1 99 53 26 27 0.51 intronic rs55881454 IQSEC1 AU NM_001134382 exon8 c.14152+184C>G 0.119209 0.0734 Uncertain 3_13008814_G->C 3 13008814 13008814 G C snp 140.77 0/1 99 20 14 6 0.3 intronic rs72624444 IQSEC1 AU NM_014869 exon14 c.67998-72G>C 0.31889 0.7579 Uncertain 3_13114691_G->A 3 13114691 13114691 G A snp 645.77 0/1 99 30 6 24 0.8 upstream rs74753289 IQSEC1 AU 0.251797 0.2163 Uncertain 3_13359433_G->A 3 13359433 13359433 G A snp 158.77 0/1 99 10 4 6 0.6 intronic rs354477 NUP210 AU NM_024923 exon1 c.101+152G>A 0.471046 0.6687 Uncertain 3_13360513_C->T 3 13360513 13360513 C T snp 253.77 0/1 99 14 6 8 0.57 intronic rs184930 NUP210 AU NM_024923 exon2 c.1391-58C>T 0.420327 0.6032 0.350465 Uncertain 3_13361238_C->T 3 13361238 13361238 C T snp 1156.77 0/1 99 90 46 44 0.49 intronic rs2276748 NUP210 AU NM_024923 exon4 c.2082-24C>T 0.603035 0.6984 0.501768 0.5507 0.6948 Uncertain 3_13361287_C->T 3 13361287 13361287 C T snp 1643.77 0/1 99 123 54 69 0.56 exonic rs354478 NUP210 AU nonsynonymous SNV NM_024923 exon37 c.G5359A p.V1787M 0.612021 0.6984 0.512840 0.5541 0.6971 0.18 T 0.0 P -1.041 T 0.0 T 0.0 T Pathogenic 3_13361391_A->G 3 13361391 13361391 A G snp 4187.77 1/1 99 148 0 148 1.0 exonic rs354479 NUP210 AU nonsynonymous SNV NM_024923 exon37 c.T5255C p.L1752S 0.890775 0.9871 0.787560 0.7872 0.9947 0.4 T 0.0 P -0.983 T 0.0 T 0.0 T Pathogenic 3_13364876_G->T 3 13364876 13364876 G T snp 1899.77 0/1 99 169 81 88 0.52 exonic rs514084 NUP210 AU synonymous SNV NM_024923 exon34 c.C4701A p.T1567T 0.557708 0.6974 0.458558 0.5373 0.6969 Uncertain 3_13367406_C->T 3 13367406 13367406 C T snp 1776.77 0/1 99 129 57 72 0.56 exonic rs665064 NUP210 AU synonymous SNV NM_024923 exon33 c.G4533A p.S1511S 0.479633 0.6696 0.384207 0.4928 0.6749 Uncertain 3_13368892_G->A 3 13368892 13368892 G A snp 547.77 0/1 99 72 47 25 0.35 exonic rs2271509 NUP210 AU synonymous SNV NM_024923 exon32 c.C4332T p.C1444C 0.396366 0.3016 0.497924 0.4497 0.3011 Uncertain 3_13379400_C->T 3 13379400 13379400 C T snp 1947.77 0/1 99 177 87 90 0.51 exonic rs3773302 NUP210 AU synonymous SNV NM_024923 exon26 c.G3489A p.E1163E 0.511382 0.3333 0.611871 0.5085 0.3337 Uncertain 3_13379452_G->A 3 13379452 13379452 G A snp 1755.77 0/1 99 167 88 79 0.47 intronic rs3773301 NUP210 AU NM_024923 exon15 c.20237+35G>A 0.204473 0.2907 0.176566 0.1946 0.3086 Uncertain 3_13381539_C->T 3 13381539 13381539 C T snp 1401.77 0/1 99 133 70 63 0.47 splicing rs2271508 NUP210 AU NM_024923 exon16 c.22353+6C>T 0.115615 0.3145 0.015531 0.0715 0.3222 Pathogenic 3_13383540_A->G 3 13383540 13383540 A G snp 2898.77 0/1 99 250 134 116 0.46 exonic rs2271504 NUP210 AU synonymous SNV NM_024923 exon22 c.T3048C p.F1016F 0.576677 0.4008 0.656928 0.5403 0.4084 Uncertain 3_13384748_A->G 3 13384748 13384748 A G snp 1093.77 0/1 99 113 66 47 0.42 exonic rs2271502 NUP210 AU nonsynonymous SNV NM_024923 exon21 c.T2891C p.V964A 0.0131789 0.0337 0.000461 0.0083 0.0392 1 T 0.973 N -0.928 T 0.0 T 0.0 T Pathogenic 3_13395475_G->C 3 13395475 13395475 G C snp 2248.77 0/1 99 166 74 92 0.55 exonic rs2280085 NUP210 AU nonsynonymous SNV NM_024923 exon17 c.C2461G p.P821A 0.208466 0.2897 0.180867 0.2108 0.3250 0.73 T 0.0 P -0.986 T 0.082 T 0.058 T Pathogenic 3_13395579_C->A 3 13395579 13395579 C A snp 1965.77 0/1 99 182 90 92 0.51 exonic rs2280084 NUP210 AU nonsynonymous SNV NM_024923 exon17 c.G2357T p.R786L 0.57508 0.3998 0.656971 0.5920 0.4829 0.4 T 0.0 P -1.033 T 0.0 T 0.0 T Pathogenic 3_13407556_T->C 3 13407556 13407556 T C snp 972.77 0/1 99 113 67 46 0.41 exonic rs3732671 NUP210 AU nonsynonymous SNV NM_024923 exon14 c.A1822G p.I608V 0.578674 0.4107 0.656159 0.5394 0.4111 1 T 0.000 P -1.008 T 0.0 T 0.001 T Pathogenic 3_13415146_G->T 3 13415146 13415146 G T snp 2024.77 0/1 99 140 67 73 0.52 intronic rs6810356 NUP210 AU NM_024923 exon29 c.56037-71G>T 0.516773 0.3323 Uncertain 3_13418086_C->A 3 13418086 13418086 C A snp 293.77 0/1 99 18 8 10 0.56 intronic rs6442377 NUP210 AU NM_024923 exon31 c.58751+155C>A 0.51238 0.3313 Uncertain 3_13420287_T->A 3 13420287 13420287 T A snp 38.77 0/1 67 6 3 3 0.5 intronic rs1871809 NUP210 AU NM_024923 exon33 c.61231-124T>A 0.131789 0.3204 Uncertain 3_13420624_G->A 3 13420624 13420624 G A snp 1006.77 0/1 99 93 53 40 0.43 intronic rs6442378 NUP210 AU NM_024923 exon33 c.61300+144G>A 0.516973 0.3323 Uncertain 3_13421150_C->T 3 13421150 13421150 C T snp 2096.77 0/1 99 208 111 97 0.47 exonic rs7628051 NUP210 AU nonsynonymous SNV NM_024923 exon7 c.G889A p.A297T 0.516973 0.3323 0.615870 0.5050 0.3319 0.48 T 0.0 P -1.073 T 0.0 T 0.0 T Pathogenic 3_13421320_T->C 3 13421320 13421320 T C snp 603.77 0/1 99 46 25 21 0.46 intronic rs7625586 NUP210 AU NM_024923 exon34 c.62041+99T>C 0.519768 0.3323 Uncertain 3_13427998_G->T 3 13427998 13427998 G T snp 34.77 0/1 63 6 4 2 0.33 intronic rs6442380 NUP210 AU NM_024923 exon35 c.68727+91G>T 0.50639 0.3214 Uncertain 3_13432581_A->G 3 13432581 13432581 A G snp 122.77 0/1 62 6 2 4 0.67 intronic rs6442382 NUP210 AU NM_024923 exon37 c.73530-129A>G 0.569289 0.3889 Uncertain 3_13438830_A->G 3 13438830 13438830 A G snp 208.77 0/1 99 28 18 10 0.36 intronic rs13066607 NUP210 AU NM_024923 exon38 c.79676-26A>G 0.522364 0.3085 0.634015 0.5191 0.3140 Uncertain 3_13522784_C->T 3 13522784 13522784 C T snp 76.77 0/1 99 9 5 4 0.44 exonic rs745756740 HDAC11 AU nonsynonymous SNV NM_024827 exon2 c.C41T p.T14I 8.313e-06 0.0001 0 D 0.895 D -0.576 T 0.008 T 0.003 T Pathogenic 3_13523010_T->C 3 13523010 13523010 T C snp 1181.77 1/1 84 39 0 39 1.0 intronic rs2655218 HDAC11 AU NM_024827 exon2 c.1047+116T>C 0.722244 0.6677 Uncertain 3_13523057_C->T 3 13523057 13523057 C T snp 182.77 0/1 99 12 5 7 0.58 intronic rs3732670 HDAC11 AU NM_024827 exon2 c.1047+163C>T 0.177716 0.2986 Uncertain 3_13574069_C->- 3 13574069 13574069 C - indel 978.73 1/1 87 31 0 31 1.0 intergenic rs35913726 HDAC11 AU 0.438099 0.4246 Uncertain 3_13612020_T->C 3 13612020 13612020 T C snp 1512.77 0/1 99 112 54 58 0.52 exonic rs3732667 FBLN2 AU synonymous SNV NM_001004019 exon2 c.T165C p.C55C 0.282748 0.3879 0.159305 0.2313 0.4825 Uncertain 3_13612296_C->T 3 13612296 13612296 C T snp 1557.77 0/1 99 148 91 57 0.39 exonic rs72624447 FBLN2 AU synonymous SNV NM_001004019 exon2 c.C441T p.A147A 0.0521166 0.2222 0.001493 0.0331 0.3196 Uncertain 3_13612936_A->G 3 13612936 13612936 A G snp 2319.77 0/1 99 213 116 97 0.46 exonic rs3732666 FBLN2 AU nonsynonymous SNV NM_001004019 exon2 c.A1081G p.S361G 0.467452 0.5496 0.351730 0.2967 0.5673 0.43 T 0.0 P -0.942 T 0.0 T 0.0 T ID=CM128438;DIS=Hypertension, reduced risk, association with;TAG=DP;PUB=22912785 DP Pathogenic 3_13661047_A->T 3 13661047 13661047 A T snp 544.77 0/1 99 33 16 17 0.52 intronic rs2280304 FBLN2 AU NM_001004019 exon8 c.49374-182A>T 0.136581 0.1101 Uncertain 3_13669537_T->G 3 13669537 13669537 T G snp 1460.77 1/1 99 51 0 51 1.0 intronic rs1966825 FBLN2 AU NM_001004019 exon11 c.57614+68T>G 0.826078 0.9931 Uncertain 3_13670481_A->G 3 13670481 13670481 A G snp 5266.77 1/1 99 187 0 187 1.0 exonic rs2242023 FBLN2 AU synonymous SNV NM_001004019 exon12 c.A2646G p.T882T 0.677915 0.7629 0.636765 0.6923 0.7957 Uncertain 3_13670536_A->G 3 13670536 13670536 A G snp 4310.77 1/1 99 146 0 146 1.0 exonic rs9843344 FBLN2 AU nonsynonymous SNV NM_001004019 exon12 c.A2701G p.T901A 0.805312 0.9931 0.695676 0.7364 0.9833 0.5 T 0.0 P -0.983 T 0.003 T 0.011 T ID=CM148699;DIS=Thiopurine-induced leukopenia, association with;TAG=DP;PUB=25108385 DP Pathogenic 3_13670776_T->C 3 13670776 13670776 T C snp 1263.77 1/1 93 45 0 45 1.0 exonic rs4684968 FBLN2 AU synonymous SNV NM_001004019 exon13 c.T2826C p.F942F 0.800719 0.9931 0.687042 0.7321 0.9842 Uncertain 3_13670837_T->G 3 13670837 13670837 T G snp 516.77 1/1 39 14 0 14 1.0 intronic rs4684969 FBLN2 AU NM_001004019 exon13 c.58937+45T>G 0.800519 0.9931 0.679529 0.6943 0.9825 Uncertain 3_13672505_T->C 3 13672505 13672505 T C snp 90.28 1/1 9 3 0 3 1.0 intronic rs976569 FBLN2 AU NM_001004019 exon15 c.60460+190T>C 0.794129 0.9931 Uncertain 3_13678173_G->T 3 13678173 13678173 G T snp 810.77 0/1 99 72 44 28 0.39 intronic rs2290188 FBLN2 AU NM_001004019 exon17 c.66213+105G>T 0.603435 0.6458 Uncertain 3_13679044_G->A 3 13679044 13679044 G A snp 1147.77 0/1 99 86 42 44 0.51 intronic rs4684148 FBLN2 AU NM_001004019 exon18 c.67206-17G>A 0.493411 0.6379 0.391919 0.4470 0.7049 Uncertain 3_13679203_G->A 3 13679203 13679203 G A snp 2472.77 0/1 99 198 96 102 0.52 exonic rs1061375 FBLN2 AU synonymous SNV NM_001004019 exon18 c.G3480A p.T1160T 0.515775 0.6369 0.417674 0.3798 0.6776 Uncertain 3_13679335_C->T 3 13679335 13679335 C T snp 1466.77 0/1 99 138 72 66 0.48 exonic rs1061376 FBLN2 AU synonymous SNV NM_001004019 exon18 c.C3612T p.D1204D 0.494808 0.6399 0.387842 0.3746 0.6818 Uncertain 3_13679688_T->A 3 13679688 13679688 T A snp 1308.77 0/1 99 149 86 63 0.42 UTR3 rs1061390 FBLN2 AU 0.2498 0.2599 0.2448 0.2290 0.0 P Uncertain 3_13679695_C->A 3 13679695 13679695 C A snp 1299.77 0/1 99 147 85 62 0.42 UTR3 rs1061398 FBLN2 AU 0.2498 0.2599 0.2425 0.2286 0.0 P -0.966 T Uncertain 3_13679708_C->A 3 13679708 13679708 C A snp 1204.77 0/1 99 144 86 58 0.4 UTR3 rs12968 FBLN2 AU 0.226438 0.2609 0.2396 0.2233 0.030 P -1.022 T Uncertain 3_13679829_C->T 3 13679829 13679829 C T snp 518.77 1/1 39 17 0 17 1.0 UTR3 rs7820 FBLN2 AU 0.828474 0.9167 0.7107 0.9031 Uncertain 3_13679855_T->A 3 13679855 13679855 T A snp 164.78 0/1 24 7 1 6 0.86 UTR3 rs7596 FBLN2 AU 0.486222 0.621 Uncertain 3_13895817_C->G 3 13895817 13895817 C G snp 54.74 1/1 6 2 0 2 1.0 intronic rs3762720 WNT7A AR NM_004625 exon2 c.35588-211C>G 0.784744 0.9246 Uncertain 3_13896140_A->G 3 13896140 13896140 A G snp 2642.77 0/1 99 223 112 111 0.5 exonic rs3762719 WNT7A AR synonymous SNV NM_004625 exon3 c.T459C p.S153S 0.250799 0.5813 0.180071 0.2143 0.5546 Uncertain 3_13896284_C->T 3 13896284 13896284 C T snp 562.77 0/1 99 40 18 22 0.55 exonic rs12639607 WNT7A AR synonymous SNV NM_004625 exon3 c.G315A p.A105A 0.221446 0.5813 0.140935 0.2051 0.5542 Uncertain 3_13916407_G->T 3 13916407 13916407 G T snp 838.77 0/1 99 75 44 31 0.41 intronic rs3749319 WNT7A AR NM_004625 exon3 c.56003-36G>T 0.538139 0.7718 0.477406 0.5847 0.7788 Uncertain 3_13916794_G->T 3 13916794 13916794 G T snp 377.77 0/1 99 26 9 17 0.65 intronic rs41284007 WNT7A AR NM_004625 exon3 c.56230+124G>T 0.117212 0.1409 Uncertain 3_14123156_T->C 3 14123156 14123156 T C snp 708.77 0/1 99 47 15 32 0.68 intergenic rs72624473 TPRXL AU 0.101238 0.1865 Uncertain 3_14154231_T->G 3 14154231 14154231 T G snp 336.78 1/1 27 10 0 10 1.0 UTR3 rs2731316 CHCHD4 AU 0.681909 0.6498 Uncertain 3_14166394_T->C 3 14166394 14166394 T C snp 341.78 1/1 27 10 0 10 1.0 upstream rs2733578 CHCHD4 AU 0.246006 0.2183 Uncertain 3_14166835_C->T 3 14166835 14166835 C T snp 394.77 1/1 30 12 0 12 1.0 intronic rs2733579 TMEM43 AD NM_024334 exon1 c.12+130C>T 0.245807 0.2183 Uncertain 3_14166872_C->T 3 14166872 14166872 C T snp 124.03 1/1 12 4 0 4 1.0 intronic rs2733580 TMEM43 AD NM_024334 exon1 c.12+167C>T 0.246006 0.2183 Uncertain 3_14170566_A->- 3 14170566 14170566 A - indel 3117.73 1/1 99 77 0 77 1.0 intronic rs398091303 TMEM43 AD NM_024334 exon2 c.4218-345delA 0.0966454 0.2123 0.0388 0.25 Uncertain 3_14173963_G->T 3 14173963 14173963 G T snp 4172.77 1/1 99 157 0 157 1.0 intronic rs4685074 TMEM43 AD NM_024334 exon5 c.7352-82G>T 0.45627 0.6706 Uncertain 3_14174146_T->C 3 14174146 14174146 T C snp 1924.77 1/1 99 60 0 60 1.0 intronic rs4685075 TMEM43 AD NM_024334 exon5 c.7402+51T>C 0.557308 0.6786 0.461556 0.4707 0.6742 Uncertain 3_14175262_T->C 3 14175262 14175262 T C snp 5016.77 1/1 99 187 0 187 1.0 exonic rs2340917 TMEM43 AD nonsynonymous SNV NM_024334 exon7 c.T536C p.M179T 0.463259 0.6756 0.332769 0.3724 0.6735 1 T 0.001 P -0.943 T 0.0 T 0.0 T CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=criteria_provided\x2c_multiple_submitters\x2c_no_conflicts|criteria_provided\x2c_single_submitter;CLNACC=RCV000039389.7|RCV000125539.1;CLNDSDB=MedGen|MedGen;CLNDSDBID=CN169374|CN221809 Pathogenic 3_14180552_A->G 3 14180552 14180552 A G snp 124.03 1/1 12 4 0 4 1.0 intronic rs2607767 TMEM43 AD NM_024334 exon11 c.13986-127A>G 0.707268 0.6994 Uncertain 3_14187449_G->T 3 14187449 14187449 G T snp 1329.77 1/1 96 45 0 45 1.0 exonic rs2228001 XPC AR nonsynonymous SNV NM_004628 exon16 c.C2815A p.Q939K 0.684704 0.6667 0.642062 0.6325 0.6449 1 T 0.000 P -0.955 T 0.0 T 0.0 T CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000170436.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 ID=CM070359;DIS=DNA repair rate, association with;TAG=DFP;PUB=14729591 DFP Pathogenic 3_14187699_T->C 3 14187699 14187699 T C snp 1058.77 1/1 78 32 0 32 1.0 intronic rs2733532 XPC AR NM_004628 exon1 c.219+40T>C 0.694289 0.6726 0.654883 0.6467 0.6773 Uncertain 3_14190237_T->G 3 14190237 14190237 T G snp 7009.77 1/1 99 249 0 249 1.0 splicing rs2279017 XPC AR NM_004628 exon4 c.2791+6T>G 0.679712 0.6657 0.635344 0.6302 0.6455 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000170435.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 3_14194023_C->T 3 14194023 14194023 C T snp 1420.77 1/1 99 41 0 41 1.0 intronic rs3729584 XPC AR NM_004628 exon6 c.6476+107C>T 0.0660942 0.2083 Uncertain 3_14197987_A->T 3 14197987 14197987 A T snp 3256.77 1/1 99 125 0 125 1.0 exonic rs2958057 XPC AR synonymous SNV NM_004628 exon10 c.T1881A p.A627A 1 1 1 1 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000170433.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 3_14201456_G->C 3 14201456 14201456 G C snp 301.78 1/1 24 9 0 9 1.0 intronic rs3731123 XPC AR NM_004628 exon9 c.13890+126G>C 0.0888578 0.2083 Uncertain 3_14206572_A->G 3 14206572 14206572 A G snp 379.77 1/1 30 10 0 10 1.0 intronic rs3731115 XPC AR NM_004628 exon10 c.18993+139A>G 0.0880591 0.2083 Uncertain 3_14208625_G->C 3 14208625 14208625 G C snp 3570.77 1/1 99 117 0 117 1.0 intronic rs3729587 XPC AR NM_004628 exon12 c.21228-43G>C 0.355631 0.2411 0.334038 0.3215 0.2896 Uncertain 3_14208630_G->A 3 14208630 14208630 G A snp 3859.77 1/1 99 128 0 128 1.0 intronic rs3729588 XPC AR NM_004628 exon12 c.21228-38G>A 0.110623 0.2083 0.049047 0.0541 0.2490 Uncertain 3_14220023_G->C 3 14220023 14220023 G C snp 7911.77 1/1 99 250 0 250 1.0 exonic rs1870134 XPC AR nonsynonymous SNV NM_004628 exon1 c.C46G p.L16V 0.0650958 0.2073 0.004937 0.0378 0.2319 0.23 T 0.000 P -1.071 T 0.001 T 0.002 T CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000122323.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 3_14220439_C->T 3 14220439 14220439 C T snp 1041.77 1/1 75 34 0 34 1.0 intronic rs3731055 LSM3 AU NM_014463 exon1 c.21+58C>T 0.0652955 0.2073 0.005694 ID=CR118048;DIS=DNA damage in coke oven workers, association with;TAG=DFP;PUB=21822670 DFP Uncertain 3_14485484_C->A 3 14485484 14485484 C A snp 1384.77 0/1 99 113 50 63 0.56 intronic rs36107877 SLC6A6 AU NM_001134367 exon11 c.41278+113C>A 0.304113 0.379 0.4033 0.4838 Uncertain 3_14486392_A->G 3 14486392 14486392 A G snp 483.77 0/1 99 37 16 21 0.57 intronic rs3773189 SLC6A6 AU NM_001134367 exon12 c.43131-832A>G 0.554113 0.4603 0.5412 0.4158 Uncertain 3_14519885_A->T 3 14519885 14519885 A T snp 744.77 0/1 99 54 26 28 0.52 intronic rs2241781 SLC6A6 AU NM_001134367 exon20 c.75880-88A>T 0.397764 0.5238 Uncertain 3_14520164_A->G 3 14520164 14520164 A G snp 983.77 0/1 99 82 46 36 0.44 intronic rs2241780 SLC6A6 AU NM_001134367 exon20 c.75983+88A>G 0.426518 0.5198 Uncertain 3_14520560_G->C 3 14520560 14520560 G C snp 498.77 0/1 99 59 37 22 0.37 intronic rs2304510 SLC6A6 AU NM_001134367 exon21 c.76499-32G>C 0.239816 0.372 0.170998 0.1867 0.3752 Uncertain 3_14537867_A->G 3 14537867 14537867 A G snp 340.77 0/1 99 35 22 13 0.37 intronic rs11918344 GRIP2 AU NM_001080423 exon3 c.2752-57A>G 0.69988 0.6538 Uncertain 3_14538073_A->- 3 14538073 14538073 A - indel 3029.73 0/1 99 179 91 88 0.49 splicing rs11333211 GRIP2 AU NM_001080423 exon3 c.2896+5delA 0.581869 0.6458 0.460138 0.5067 0.6411 Pathogenic 3_14548208_G->A 3 14548208 14548208 G A snp 99.28 1/1 9 3 0 3 1.0 intronic rs2276756 GRIP2 AU NM_001080423 exon6 c.13136-100G>A 0.454273 0.5972 Uncertain 3_14548494_A->G 3 14548494 14548494 A G snp 1065.77 0/1 99 118 72 46 0.39 splicing rs2276755 GRIP2 AU NM_001080423 exon6 c.13316+6A>G 0.455272 0.5972 0.339486 0.4991 0.6196 Pathogenic 3_14551444_A->G 3 14551444 14551444 A G snp 1363.77 0/1 99 158 96 62 0.39 exonic rs9845816 GRIP2 AU unknown 0.710064 0.7857 0.601771 0.6373 0.6952 Uncertain 3_14552994_A->G 3 14552994 14552994 A G snp 360.77 0/1 99 36 21 15 0.42 intronic rs4685168 GRIP2 AU NM_001080423 exon10 c.17815+7A>G 0.811502 0.7887 0.770348 0.7674 0.7821 Uncertain 3_14554476_T->C 3 14554476 14554476 T C snp 1293.77 0/1 99 101 52 49 0.49 intronic rs4516597 GRIP2 AU NM_001080423 exon11 c.19193+111T>C 0.632588 0.753 Uncertain 3_14554608_C->T 3 14554608 14554608 C T snp 44.77 0/1 33 3 1 2 0.67 intronic rs11128703 GRIP2 AU NM_001080423 exon11 c.19193+243C>T 0.473842 0.5873 Uncertain 3_14555009_C->T 3 14555009 14555009 C T snp 270.77 0/1 99 15 6 9 0.6 intronic rs4685170 GRIP2 AU NM_001080423 exon12 c.20000-163C>T 0.473442 0.5863 Uncertain 3_14555216_T->C 3 14555216 14555216 T C snp 1388.77 0/1 99 119 64 55 0.46 exonic rs4685171 GRIP2 AU unknown 0.660743 0.7728 0.564858 0.6175 0.7708 Uncertain 3_14555367_T->C 3 14555367 14555367 T C snp 251.77 0/1 99 14 6 8 0.57 intronic rs4685172 GRIP2 AU NM_001080423 exon12 c.20146+49T>C 0.446885 0.5655 0.358603 0.4604 0.5795 Uncertain 3_14555409_T->C 3 14555409 14555409 T C snp 96.28 1/1 9 3 0 3 1.0 intronic rs28520469 GRIP2 AU NM_001080423 exon12 c.20146+91T>C 0.576877 0.749 Uncertain 3_14555411_A->C 3 14555411 14555411 A C snp 99.28 1/1 9 3 0 3 1.0 intronic rs28462294 GRIP2 AU NM_001080423 exon12 c.20146+93A>C 0.643371 0.752 Uncertain 3_14555739_G->A 3 14555739 14555739 G A snp 676.77 0/1 99 80 52 28 0.35 intronic rs4361268 GRIP2 AU NM_001080423 exon13 c.20627-60G>A 0.473043 0.5863 Uncertain 3_14555758_-->AGTT 3 14555758 14555758 - AGTT indel 2164.73 0/1 99 90 55 35 0.39 intronic rs10656368 GRIP2 AU NM_001080423 exon13 c.20627-41insAGTT 0.660942 0.7738 0.507442 0.5658 0.7030 Uncertain 3_14555811_A->G 3 14555811 14555811 A G snp 937.77 0/1 99 100 56 44 0.44 exonic rs4613440 GRIP2 AU unknown 0.661741 0.7748 0.551622 0.6284 0.7602 Uncertain 3_14561627_-->G 3 14561627 14561627 - G indel 1264.73 1/1 96 32 0 32 1.0 exonic rs397758273 GRIP2 AU unknown 1 1 0.999838 1.0000 1 Uncertain 3_14563258_A->G 3 14563258 14563258 A G snp 693.77 0/1 99 52 25 27 0.52 exonic rs4234526 GRIP2 AU unknown 0.447484 0.5694 0.344767 0.4590 0.5703 Uncertain 3_14565017_G->A 3 14565017 14565017 G A snp 1259.77 0/1 99 122 68 54 0.44 intronic rs4685173 GRIP2 AU NM_001080423 exon20 c.29946-101G>A 0.45028 0.5694 Uncertain 3_14565357_G->A 3 14565357 14565357 G A snp 44.74 1/1 6 2 0 2 1.0 intronic rs4685174 GRIP2 AU NM_001080423 exon20 c.30033+152G>A 0.45028 0.5694 Uncertain 3_14702982_C->A 3 14702982 14702982 C A snp 4423.77 1/1 99 156 0 156 1.0 intronic rs2276754 CCDC174 AR NM_016474 exon5 c.9693-54C>A 0.772963 0.6855 Uncertain 3_14703297_C->G 3 14703297 14703297 C G snp 5696.77 1/1 99 206 0 206 1.0 intronic rs9840626 CCDC174 AR NM_016474 exon5 c.9871+83C>G 0.198682 0.2183 Uncertain 3_14706745_-->ATTG 3 14706745 14706745 - ATTG indel 452.75 1/1 24 19 0 19 1.0 intronic rs142447115 CCDC174 AR NM_016474 exon6 c.13287+115insATTG 0.474641 0.3522 Uncertain 3_14708918_A->G 3 14708918 14708918 A G snp 4348.77 1/1 99 158 0 158 1.0 intronic rs2280383 CCDC174 AR NM_016474 exon8 c.15587-12A>G 0.758187 0.6845 0.826849 0.8625 0.7157 Uncertain 3_14712473_G->A 3 14712473 14712473 G A snp 4021.77 1/1 99 144 0 144 1.0 exonic rs1901 CCDC174 AR synonymous SNV NM_016474 exon11 c.G1176A p.P392P 0.345447 0.2262 0.377979 0.3491 0.2379 Uncertain 3_14724345_G->A 3 14724345 14724345 G A snp 2459.77 0/1 99 198 96 102 0.52 exonic rs17040154 C3orf20 AU nonsynonymous SNV NM_032137 exon3 c.G125A p.G42D 0.0597045 0.0823 0.043749 0.0660 0.0813 0 D 1.0 P -1.113 T 1.0 D 0.999 D Pathogenic 3_14724413_G->A 3 14724413 14724413 G A snp 7590.77 1/1 99 250 0 250 1.0 exonic rs9821143 C3orf20 AU nonsynonymous SNV NM_032137 exon3 c.G193A p.D65N 0.297724 0.2252 0.334384 0.3384 0.2382 0.19 T 0.000 P -0.929 T 0.385 T 0.034 T Pathogenic 3_14725668_G->A 3 14725668 14725668 G A snp 781.77 1/1 57 28 0 28 1.0 intronic rs12488352 C3orf20 AU NM_001184957 exon4 c.1162-80G>A 0.743211 0.6855 Uncertain 3_14745857_G->A 3 14745857 14745857 G A snp 2602.77 1/1 99 92 0 92 1.0 exonic rs17040196 C3orf20 AU nonsynonymous SNV NM_001184957 exon7 c.G526A p.A176T 0.376997 0.3155 0.427111 0.3922 0.3409 0.6 T 0.0 P -0.916 T 0.017 T 0.011 T Pathogenic 3_14755572_A->G 3 14755572 14755572 A G snp 1712.77 1/1 99 63 0 63 1.0 exonic rs6765537 C3orf20 AU nonsynonymous SNV NM_001184957 exon8 c.A853G p.I285V 0.378195 0.3244 0.425803 0.3915 0.3472 0.36 T 0.039 P -0.917 T 0.506 P 0.225 P Pathogenic 3_14755617_C->G 3 14755617 14755617 C G snp 1405.77 1/1 99 56 0 56 1.0 exonic rs6790129 C3orf20 AU nonsynonymous SNV NM_001184957 exon8 c.C898G p.L300V 0.378994 0.3234 0.427418 0.3927 0.3469 0.28 T 0.078 P -0.928 T 0.873 T 0.49 P Pathogenic 3_14756578_A->C 3 14756578 14756578 A C snp 86.28 1/1 9 4 0 4 1.0 intronic rs12495591 C3orf20 AU NM_001184957 exon9 c.32209-217A>C 0.660543 0.6825 Uncertain 3_14756730_A->G 3 14756730 14756730 A G snp 903.77 1/1 66 32 0 32 1.0 intronic rs9869372 C3orf20 AU NM_001184957 exon9 c.32209-65A>G 0.807907 0.7232 Uncertain 3_14768554_G->A 3 14768554 14768554 G A snp 1772.77 1/1 99 68 0 68 1.0 intronic rs17255247 C3orf20 AU NM_001184957 exon11 c.43945+23G>A 0.338059 0.3175 0.394510 0.3827 0.3419 Uncertain 3_14801550_G->A 3 14801550 14801550 G A snp 989.77 0/1 99 58 24 34 0.59 intronic rs2729697 C3orf20 AU NM_001184957 exon14 c.76919+45G>A 0.189696 0.2133 0.255462 0.2673 0.2243 Uncertain 3_14813825_G->C 3 14813825 14813825 G C snp 71.77 0/1 99 7 4 3 0.43 intronic rs294624 C3orf20 AU NM_001184957 exon16 c.89122+117G>C 0.402556 0.3591 Uncertain 3_14905426_C->T 3 14905426 14905426 C T snp 74.77 0/1 69 5 2 3 0.6 intronic rs10510433 FGD5 AU NM_152536 exon2 c.45056-208C>T 0.117013 0.2966 Uncertain 3_14905513_T->G 3 14905513 14905513 T G snp 1836.77 1/1 99 64 0 64 1.0 intronic rs172429 FGD5 AU NM_152536 exon2 c.45056-121T>G 0.872404 0.9752 Uncertain 3_14939088_G->A 3 14939088 14939088 G A snp 887.77 0/1 99 83 46 37 0.45 exonic rs2307092 FGD5 AU nonsynonymous SNV NM_152536 exon5 c.G2821A p.E941K 0.0660942 0.1885 0.0626 0.2680 0.85 T 0.721 P -1.061 T 0.13 T 0.049 T Pathogenic 3_14939089_A->T 3 14939089 14939089 A T snp 903.77 0/1 99 83 45 38 0.46 exonic rs2307091 FGD5 AU nonsynonymous SNV NM_152536 exon5 c.A2822T p.E941V 0.0660942 0.1885 0.0628 0.2688 0.31 T 0.817 P -1.094 T 0.764 T 0.154 P Pathogenic 3_14939198_G->A 3 14939198 14939198 G A snp 200.77 0/1 99 26 17 9 0.35 intronic rs2117775 FGD5 AU NM_152536 exon5 c.78598+22G>A 0.714856 0.5952 0.780046 0.7263 0.5966 Uncertain 3_14939337_G->A 3 14939337 14939337 G A snp 229.77 0/1 57 9 2 7 0.78 intronic rs58244401 FGD5 AU NM_152536 exon6 c.78867-108G>A 0.0660942 0.1885 Uncertain 3_14939364_G->A 3 14939364 14939364 G A snp 142.77 0/1 99 25 19 6 0.24 intronic rs2117774 FGD5 AU NM_152536 exon6 c.78867-81G>A 0.703874 0.5942 Uncertain 3_14939479_G->T 3 14939479 14939479 G T snp 2237.77 0/1 99 227 132 95 0.42 exonic rs2164356 FGD5 AU synonymous SNV NM_152536 exon6 c.G2943T p.L981L 0.680511 0.5942 0.735280 0.6915 0.5697 1.000 P -1.007 T Likely benign 3_14939679_G->A 3 14939679 14939679 G A snp 1185.77 0/1 99 88 43 45 0.51 intronic rs2307090 FGD5 AU NM_152536 exon6 c.79024+77G>A 0.680312 0.5942 Uncertain 3_14942675_G->A 3 14942675 14942675 G A snp 1745.77 1/1 99 53 0 53 1.0 intronic rs293906 FGD5 AU NM_152536 exon9 c.81990+107G>A 0.871406 0.9742 Uncertain 3_14948940_C->T 3 14948940 14948940 C T snp 43.77 0/1 66 4 2 2 0.5 intronic rs293911 FGD5 AU NM_152536 exon10 c.88568-206C>T 0.157348 0.381 Uncertain 3_14949102_G->T 3 14949102 14949102 G T snp 1290.77 0/1 99 103 50 53 0.51 intronic rs293910 FGD5 AU NM_152536 exon10 c.88568-44G>T 0.157348 0.381 0.053353 0.1131 0.4146 Uncertain 3_14949268_C->T 3 14949268 14949268 C T snp 587.77 0/1 99 39 17 22 0.56 intronic rs9818644 FGD5 AU NM_152536 exon10 c.88640+50C>T 0.680312 0.5923 0.742685 0.6921 0.5721 Uncertain 3_14952341_C->T 3 14952341 14952341 C T snp 1218.77 0/1 99 118 64 54 0.46 intronic rs117236029 FGD5 AU NM_152536 exon11 c.91789-26C>T 0.0662939 0.1895 0.010319 0.0543 0.2504 Uncertain 3_14952526_T->G 3 14952526 14952526 T G snp 638.77 0/1 99 66 32 34 0.52 intronic rs1716969 FGD5 AU NM_152536 exon11 c.91858+90T>G 0.157348 0.381 Uncertain 3_14960170_T->C 3 14960170 14960170 T C snp 943.77 1/1 72 28 0 28 1.0 intronic rs293916 FGD5 AU NM_152536 exon13 c.99682-90T>C 0.927716 0.9097 Uncertain 3_14960204_G->T 3 14960204 14960204 G T snp 808.77 0/1 99 64 31 33 0.52 intronic rs2117776 FGD5 AU NM_152536 exon13 c.99682-56G>T 0.150958 0.2798 0.163163 Uncertain 3_14963337_C->T 3 14963337 14963337 C T snp 1328.77 0/1 99 99 39 60 0.61 intronic rs13060887 FGD5 AU NM_152536 exon14 c.102846-87C>T 0.150359 0.2808 Uncertain 3_14964821_C->T 3 14964821 14964821 C T snp 56.74 1/1 6 2 0 2 1.0 intronic rs1685637 FGD5 AU NM_152536 exon16 c.104104+139C>T 0.92492 0.9067 Uncertain 3_14965466_C->T 3 14965466 14965466 C T snp 738.77 0/1 99 56 25 31 0.55 intronic rs4685234 FGD5 AU NM_152536 exon17 c.104936-48C>T 0.737819 0.623 0.713406 0.6987 0.6178 Uncertain 3_14965507_A->G 3 14965507 14965507 A G snp 3669.77 1/1 99 129 0 129 1.0 intronic rs4685235 FGD5 AU NM_152536 exon17 c.104936-7A>G 0.967252 1 0.940178 0.9326 0.9999 Uncertain 3_15070374_G->C 3 15070374 15070374 G C snp 90.28 1/1 9 3 0 3 1.0 intronic rs4685237 NR2C2 AU NM_003298 exon9 c.24805+148G>C 1 1 Uncertain 3_15100801_G->A 3 15100801 15100801 G A snp 319.77 0/1 99 19 6 13 0.68 intronic rs13068576 MRPS25 AU NM_022497 exon3 c.6928-74G>A 0.117013 0.119 Uncertain 3_15115270_G->T 3 15115270 15115270 G T snp 294.77 0/1 99 18 8 10 0.56 UTR3 rs3831 RBSN AU 0.161741 0.12 0.216208 0.2066 0.1030 Uncertain 3_15127523_TAG->- 3 15127523 15127525 TAG - indel 1079.73 0/1 99 36 15 21 0.58 intronic rs67424033 RBSN AU NM_022340 exon9 c.12180+55_12180+57delTAG 0.364217 0.2312 Uncertain 3_15133088_C->T 3 15133088 15133088 C T snp 1245.77 0/1 99 98 50 48 0.49 intronic rs9869512 RBSN AU NM_022340 exon10 c.16758+1042C>T 0.285343 0.2312 Uncertain 3_15216429_C->T 3 15216429 15216429 C T snp 2023.77 0/1 99 195 108 87 0.45 ncRNA_exonic rs7639618 COL6A4P1 AU 0.280351 0.4762 0.2748 0.4356 Uncertain 3_15216703_A->T 3 15216703 15216703 A T snp 1326.77 0/1 99 99 46 53 0.54 ncRNA_exonic rs11718863 COL6A4P1 AU 0.245807 0.4762 0.2216 0.435 Uncertain 3_15222262_G->A 3 15222262 15222262 G A snp 107.77 0/1 99 12 8 4 0.33 ncRNA_intronic rs2129947 COL6A4P1 AU 0.235423 0.4752 Uncertain 3_15259865_G->A 3 15259865 15259865 G A snp 304.78 1/1 24 8 0 8 1.0 intronic rs826426 CAPN7 AU NM_014296 exon4 c.11977-114G>A 0.964457 1 Uncertain 3_15301363_G->A 3 15301363 15301363 G A snp 1736.77 0/1 99 160 79 81 0.51 ncRNA_exonic rs2291853 SH3BP5-AS1 AU 0.69369 0.619 0.660096 Uncertain 3_15345924_G->A 3 15345924 15345924 G A snp 282.77 0/1 99 35 24 11 0.31 intronic rs9828229 SH3BP5 AU NM_001018009 exon7 c.48214+118G>A 0.413339 0.5972 Uncertain 3_15371819_C->A 3 15371819 15371819 C A snp 111.77 0/1 99 8 4 4 0.5 intronic rs3773464 SH3BP5 AU NM_004844 exon8 c.74418-191C>A 0.633387 0.6716 Uncertain 3_15456441_A->G 3 15456441 15456441 A G snp 767.77 0/1 99 51 18 33 0.65 intronic rs73142299 METTL6 AU NM_001301791 exon2 c.1691-563A>G 0.117212 0.0645 0.0671 0.1087 Uncertain 3_15456836_A->G 3 15456836 15456836 A G snp 56.74 1/1 6 2 0 2 1.0 intronic rs1869853 METTL6 AU NM_001301791 exon2 c.1691-168A>G 0.111422 0.0645 Uncertain 3_15456948_A->G 3 15456948 15456948 A G snp 897.77 0/1 99 81 43 38 0.47 intronic rs1869852 METTL6 AU NM_001301791 exon2 c.1691-56A>G 0.166334 0.0794 Uncertain 3_15456949_A->C 3 15456949 15456949 A C snp 900.77 0/1 99 82 44 38 0.46 intronic rs1869851 METTL6 AU NM_001301791 exon2 c.1691-55A>C 0.166334 0.0794 Uncertain 3_15476055_A->G 3 15476055 15476055 A G snp 1840.77 0/1 99 145 72 73 0.5 intronic rs6797367 EAF1 AU NM_033083 exon4 c.6759+10A>G 0.0802716 0.0645 0.073581 0.0591 0.0791 Uncertain 3_15480726_C->T 3 15480726 15480726 C T snp 725.77 0/1 99 115 78 37 0.32 UTR3 rs17041129 EAF1 AU 0.0800719 0.0645 0.070959 Uncertain 3_15609191_G->A 3 15609191 15609191 G A snp 102.77 0/1 99 10 6 4 0.4 intronic rs2271022 HACL1 AU NM_001284413 exon4 c.6979-159G>A 0.0545128 0.1002 Uncertain 3_15613291_-->CAC 3 15613291 15613291 - CAC indel 1159.73 0/1 99 43 20 23 0.53 intronic rs201026573 HACL1 AU NM_001284413 exon6 c.10905+15insCAC 0.0327 0.1071 Uncertain 3_15643043_A->G 3 15643043 15643043 A G snp 7633.77 1/1 99 249 0 249 1.0 UTR5 rs2019160 HACL1 AU 0.968051 0.9891 0.9578 0.9971 Uncertain 3_15717693_G->A 3 15717693 15717693 G A snp 548.77 1/1 42 16 0 16 1.0 intronic rs2246960 ANKRD28 AU NM_001195099 exon2 c.5720+197G>A 0.38778 0.3224 Uncertain 3_15718652_T->A 3 15718652 15718652 T A snp 399.77 1/1 30 14 0 14 1.0 intronic rs2470540 ANKRD28 AU NM_001195099 exon3 c.6787+89T>A 0.474441 0.3849 Uncertain 3_15736385_A->T 3 15736385 15736385 A T snp 6653.77 1/1 99 247 0 247 1.0 intronic rs2455814 ANKRD28 AU NM_001195099 exon12 c.24544+65A>T 0.999201 1 0.998029 Uncertain 3_15737610_T->C 3 15737610 15737610 T C snp 3113.77 1/1 99 118 1 117 0.99 intronic rs2470547 ANKRD28 AU NM_001195099 exon14 c.25864-30T>C 0.412939 0.3522 0.473033 0.5522 0.4468 Uncertain 3_15737689_G->A 3 15737689 15737689 G A snp 4074.77 1/1 99 155 1 154 0.99 exonic rs2470548 ANKRD28 AU synonymous SNV NM_001195099 exon13 c.C1059T p.N353N 0.469249 0.3522 0.542993 0.6043 0.4566 Uncertain 3_15737698_T->C 3 15737698 15737698 T C snp 3995.77 1/1 99 151 1 150 0.99 exonic rs2470549 ANKRD28 AU synonymous SNV NM_001195099 exon13 c.A1050G p.Q350Q 0.412939 0.3522 0.471329 0.5857 0.4548 Uncertain 3_15738747_C->T 3 15738747 15738747 C T snp 274.77 0/1 99 19 7 12 0.63 intronic rs570429090 ANKRD28 AU NM_001195099 exon14 c.25976+995C>T 0.000399361 0.002 Uncertain 3_15752830_T->C 3 15752830 15752830 T C snp 577.77 1/1 42 26 0 26 1.0 intronic rs2455833 ANKRD28 AU NM_001195099 exon17 c.41005+49T>C 0.396565 0.3522 0.466571 0.5435 0.3741 Uncertain 3_15753641_A->G 3 15753641 15753641 A G snp 3386.77 1/1 99 125 0 125 1.0 splicing rs2455834 ANKRD28 AU NM_001195099 exon18 c.41870-5A>G 0.389577 0.3323 0.459090 0.5753 0.4668 Pathogenic 3_15756215_A->T 3 15756215 15756215 A T snp 1160.77 1/1 84 46 0 46 1.0 intronic rs924754 ANKRD28 AU NM_001195099 exon20 c.44387+52A>T 0.533746 0.371 0.596576 Uncertain 3_15762696_C->G 3 15762696 15762696 C G snp 240.77 0/1 57 9 2 7 0.78 intronic rs78257767 ANKRD28 AU NM_001195099 exon21 c.50858+62C>G 0.125799 0.2054 Uncertain 3_15807725_T->A 3 15807725 15807725 T A snp 1902.77 1/1 99 78 0 78 1.0 intronic rs6789076 ANKRD28 AU NM_015199 exon26 c.95964-15T>A 0.417332 0.3333 0.488748 0.5546 0.3577 Uncertain 3_15855574_G->T 3 15855574 15855574 G T snp 41.77 0/1 66 4 2 2 0.5 intronic rs80027796 ANKRD28 AU NM_001195098 exon28 c.127915+15883G>T 0.00978435 0.0456 Uncertain 3_15900973_A->C 3 15900973 15900973 A C snp 2638.77 1/1 99 95 0 95 1.0 UTR5 rs62243667 ANKRD28 AU 0.474441 0.3274 Uncertain 3_15901054_T->- 3 15901054 15901054 T - indel 962.73 1/1 66 25 0 25 1.0 upstream rs71064238 ANKRD28 AU Uncertain 3_15915154_C->T 3 15915154 15915154 C T snp 133.03 1/1 12 4 0 4 1.0 upstream rs10514667 MIR563 AU 0.857827 0.9345 Uncertain 3_16242101_C->T 3 16242101 16242101 C T snp 830.77 0/1 99 70 33 37 0.53 intronic rs3796301 GALNT15 AU NM_054110 exon3 c.25467-24C>T 0.188698 0.1885 0.131093 0.1550 0.2046 Uncertain 3_16249998_A->T 3 16249998 16249998 A T snp 579.77 0/1 99 37 14 23 0.62 intronic rs1505609 GALNT15 AU NM_054110 exon4 c.33351-11A>T 0.232628 0.1905 0.172997 0.1665 0.1850 Uncertain 3_16250068_C->G 3 16250068 16250068 C G snp 591.77 0/1 99 66 38 28 0.42 exonic rs12634179 GALNT15 AU nonsynonymous SNV NM_054110 exon4 c.C970G p.P324A 0.0123802 0.0407 0.000615 0.0107 0.0449 0.9 T 0.966 N -1.076 T 0.001 T 0.002 T Pathogenic 3_16261139_G->A 3 16261139 16261139 G A snp 181.77 0/1 99 11 5 6 0.55 intronic rs13063387 GALNT15 AU NM_054110 exon7 c.44383+98G>A 0.158546 0.2034 Uncertain 3_16261420_C->T 3 16261420 16261420 C T snp 889.77 0/1 99 94 52 42 0.45 exonic rs2271077 GALNT15 AU nonsynonymous SNV NM_054110 exon8 c.C1528T p.H510Y 0.14357 0.1895 0.080963 0.1003 0.2058 0.09 T 0.057 P -1.067 T 0.01 T 0.009 T Pathogenic 3_16264037_T->A 3 16264037 16264037 T A snp 699.77 0/1 99 69 42 27 0.39 intronic rs2292169 GALNT15 AU NM_054110 exon9 c.47463-84T>A 0.152756 0.2252 Uncertain 3_16268769_C->G 3 16268769 16268769 C G snp 121.77 0/1 66 8 2 6 0.75 intronic rs1394908 GALNT15 AU NM_054110 exon10 c.52202-91C>G 0.1248 0.1667 Uncertain 3_16268974_T->A 3 16268974 16268974 T A snp 942.77 0/1 99 84 41 43 0.51 exonic rs15767 GALNT15 AU synonymous SNV NM_054110 exon10 c.T1887A p.R629R 0.361022 0.2034 0.414270 0.3540 0.1998 0.19 T 1.000 P -0.930 T Likely benign 3_16268986_C->A 3 16268986 16268986 C A snp 934.77 0/1 99 86 44 42 0.49 exonic rs14576 GALNT15 AU synonymous SNV NM_054110 exon10 c.C1899A p.I633I 0.29353 0.2034 0.345687 0.3203 0.1993 0.34 T 1.000 P Likely benign 3_16310857_G->A 3 16310857 16310857 G A snp 1244.77 1/1 93 36 0 36 1.0 intronic rs842258 OXNAD1 AU 0.566693 0.5248 Uncertain 3_16358584_T->C 3 16358584 16358584 T C snp 4798.77 1/1 99 170 0 170 1.0 exonic rs690241 RFTN1 AU synonymous SNV NM_015150 exon10 c.A1488G p.S496S 0.574681 0.5099 0.605413 0.5531 0.4781 Uncertain 3_16364919_A->C 3 16364919 16364919 A C snp 3030.77 1/1 99 104 0 104 1.0 exonic rs690216 RFTN1 AU synonymous SNV NM_015150 exon9 c.T1296G p.P432P 0.577276 0.5149 0.603568 0.5519 0.4818 Uncertain 3_16368121_T->C 3 16368121 16368121 T C snp 474.77 1/1 36 13 0 13 1.0 intronic rs690145 RFTN1 AU NM_015150 exon3 c.9945-158T>C 0.574281 0.5238 Uncertain 3_16399571_A->G 3 16399571 16399571 A G snp 48.77 0/1 77 47 35 12 0.26 intronic rs757449712 RFTN1 AU NM_015150 exon4 c.41220+17A>G 0.0042 0.0006 Uncertain 3_16399580_T->G 3 16399580 16399580 T G snp 84.77 0/1 99 45 31 14 0.31 intronic rs748104251 RFTN1 AU NM_015150 exon4 c.41220+26T>G 0.0180 0.0041 Uncertain 3_16475256_A->G 3 16475256 16475256 A G snp 106.77 0/1 99 13 8 5 0.38 intronic rs2303851 RFTN1 AU NM_015150 exon8 c.117023-101A>G 0.0748802 0.1171 Uncertain 3_16633664_C->T 3 16633664 16633664 C T snp 470.77 1/1 36 14 0 14 1.0 intronic rs57842038 DAZL AU NM_001351 exon2 c.3489+9C>T 0.212859 0.4752 0.115254 0.1712 0.4761 Uncertain 3_16636785_T->C 3 16636785 16636785 T C snp 226.84 1/1 18 9 0 9 1.0 intronic rs2303590 DAZL AU NM_001351 exon5 c.6654-35T>C 0.212859 0.4752 0.112270 0.1738 0.4790 Uncertain 3_16638467_A->G 3 16638467 16638467 A G snp 1063.77 1/1 78 33 0 33 1.0 intronic rs2303591 DAZL AU NM_001351 exon7 c.8328-27A>G 0.212859 0.4752 0.112473 0.1718 0.4786 Uncertain 3_16638963_T->G 3 16638963 16638963 T G snp 3449.77 1/1 99 130 0 130 1.0 intronic rs74208885 DAZL AU NM_001351 exon8 c.8830-33T>G 0.212859 0.4752 0.113571 0.1723 0.4789 Uncertain 3_16639146_T->C 3 16639146 16639146 T C snp 1401.77 1/1 99 50 0 50 1.0 intronic rs74193997 DAZL AU NM_001351 exon8 c.8882+98T>C 0.210064 0.4752 Uncertain 3_16645871_G->C 3 16645871 16645871 G C snp 2955.77 1/1 99 113 0 113 1.0 intronic rs77110037 DAZL AU NM_001190811 exon11 c.15780-75G>C 0.210064 0.4722 Uncertain 3_16646745_C->G 3 16646745 16646745 C G snp 2764.77 1/1 99 106 0 106 1.0 UTR5 rs9847342 DAZL AU 0.967652 0.998 0.934269 0.9355 1 Uncertain 3_16926491_G->A 3 16926491 16926491 G A snp 141.03 1/1 12 4 0 4 1.0 UTR5 rs6442654 PLCL2 AU 0 . Uncertain 3_16926522_T->- 3 16926522 16926522 T - indel 235.8 1/1 18 6 0 6 1.0 UTR5 rs200478663 PLCL2 AU 1 1 Uncertain 3_16926525_T->- 3 16926525 16926525 T - indel 235.8 1/1 18 6 0 6 1.0 UTR5 rs587733899 PLCL2 AU 0.997404 0.996 Uncertain 3_16926544_T->G 3 16926544 16926544 T G snp 99.28 1/1 9 3 0 3 1.0 exonic;splicing rs368284573 PLCL2;PLCL2 UN unknown 0 . 1 T 1.000 P -0.975 T Uncertain 3_16926549_T->G 3 16926549 16926549 T G snp 99.28 1/1 9 3 0 3 1.0 splicing PLCL2 AU NM_001144382 exon2 c.14+1T>G 1 T 1 D -1.042 T Pathogenic 3_16926550_G->C 3 16926550 16926550 G C snp 99.28 1/1 9 3 0 3 1.0 splicing PLCL2 AU NM_001144382 exon2 c.14+2G>C Pathogenic 3_16926557_T->G 3 16926557 16926557 T G snp 99.28 1/1 9 3 0 3 1.0 splicing rs372006934 PLCL2 AU NM_001144382 exon3 c.28-5T>G 0.999401 1 0 . 1 T 1 D -0.950 T Pathogenic 3_16926567_T->C 3 16926567 16926567 T C snp 168.9 1/1 15 5 0 5 1.0 exonic rs373958057 PLCL2 AU unknown 1 1 0 . 0.71 T 1.000 P -1.006 T Uncertain 3_16926599_T->G 3 16926599 16926599 T G snp 700.77 1/1 51 23 0 23 1.0 exonic rs7626446 PLCL2 AU unknown 1 1 0 . 1 T 1.000 P -0.996 T Uncertain 3_16926607_T->C 3 16926607 16926607 T C snp 909.77 1/1 66 30 0 30 1.0 exonic rs7626448 PLCL2 AU unknown 0 . Uncertain 3_16926642_A->G 3 16926642 16926642 A G snp 1308.77 1/1 93 49 0 49 1.0 exonic rs6442655 PLCL2 AU unknown 1 1 1 1 1 T 1.000 P -0.982 T Uncertain 3_16926648_T->G 3 16926648 16926648 T G snp 1395.77 1/1 99 51 0 51 1.0 exonic rs6442656 PLCL2 AU unknown 1 1 1 1 1 T 0.999 P -0.979 T Uncertain 3_16926666_T->G 3 16926666 16926666 T G snp 1696.77 1/1 99 63 0 63 1.0 exonic rs7626542 PLCL2 AU unknown 1 1 1 1 0.72 T 1.000 P -0.956 T Uncertain 3_16974610_C->A 3 16974610 16974610 C A snp 984.77 0/1 99 109 62 47 0.43 UTR5 rs9880307 PLCL2 AU 0.483826 0.6042 Uncertain 3_16974628_T->C 3 16974628 16974628 T C snp 1301.77 0/1 99 132 78 54 0.41 UTR5 rs9825009 PLCL2 AU 0.275759 0.5308 Uncertain 3_17051328_T->C 3 17051328 17051328 T C snp 3139.77 0/1 99 250 123 127 0.51 exonic rs7653834 PLCL2 AU synonymous SNV NM_015184 exon2 c.T112C p.L38L 0.452875 0.5466 0.374750 0.3806 0.5507 Uncertain 3_17053499_A->G 3 17053499 17053499 A G snp 2984.77 0/1 99 248 124 124 0.5 exonic rs4602367 PLCL2 AU synonymous SNV NM_015184 exon2 c.A2283G p.G761G 0.622204 0.626 0.563663 0.5796 0.6502 1.0 P -0.942 T Likely benign 3_17077268_C->T 3 17077268 17077268 C T snp 1448.77 0/1 99 135 70 65 0.48 intronic rs17272796 PLCL2 AU NM_001144382 exon6 c.157831-7097C>T 0.633586 0.627 0.565923 0.5901 0.6547 Uncertain 3_17109339_C->T 3 17109339 17109339 C T snp 108.77 0/1 99 9 5 4 0.44 intronic rs3796299 PLCL2 AU NM_001144382 exon7 c.182913-108C>T 0.262181 0.5377 Uncertain 3_17208131_C->T 3 17208131 17208131 C T snp 494.77 0/1 99 37 20 17 0.46 intronic rs74598068 TBC1D5 AU NM_014744 exon2 c.5804-127C>T 0.00499201 0.0218 Uncertain 3_17209153_G->C 3 17209153 17209153 G C snp 962.77 1/1 69 35 0 35 1.0 intronic rs56166267 TBC1D5 AU NM_014744 exon3 c.6786-87G>C 0.347644 0.5873 Uncertain 3_17209195_G->A 3 17209195 17209195 G A snp 1709.77 1/1 99 62 0 62 1.0 intronic rs2305291 TBC1D5 AU NM_014744 exon3 c.6786-45G>A 0.276158 0.5407 0.140243 0.2316 0.5598 Uncertain 3_17425738_A->G 3 17425738 17425738 A G snp 44.74 1/1 6 2 0 2 1.0 intronic rs921052 TBC1D5 AU NM_014744 exon14 c.223053+231A>G 0.827476 0.7728 Uncertain 3_18055231_A->C 3 18055231 18055231 A C snp 3629.77 1/1 99 118 0 118 1.0 exonic rs61978649 LOC339862 AU nonsynonymous SNV NM_001257177 exon2 c.A94C p.S32R 0.457468 0.8393 0.4807 0.8415 Pathogenic 3_18057982_A->G 3 18057982 18057982 A G snp 143.03 1/1 12 5 0 5 1.0 intronic rs9310538 LOC339862 AU NM_001257177 exon3 c.53932-127A>G 0.472244 0.8383 Uncertain 3_18058059_A->G 3 18058059 18058059 A G snp 396.77 1/1 30 16 0 16 1.0 intronic rs9310539 LOC339862 AU NM_001257177 exon3 c.53932-50A>G 0.589856 0.9395 Uncertain 3_18058093_C->G 3 18058093 18058093 C G snp 188.77 0/1 99 18 9 9 0.5 intronic rs62240226 LOC339862 AU NM_001257177 exon3 c.53932-16C>G 0.293131 0.4484 0.3520 0.4621 Uncertain 3_18308436_A->G 3 18308436 18308436 A G snp 1348.77 0/1 99 122 65 57 0.47 intronic rs7432753 LOC339862 AU NM_001257177 exon5 c.304332-73A>G 0.332867 0.4633 Uncertain 3_18392692_A->C 3 18392692 18392692 A C snp 50.74 1/1 6 2 0 2 1.0 intronic rs7627392 SATB1 AU NM_001195470 exon2 c.2143-112A>C 0.69349 0.9216 Uncertain 3_18419553_C->T 3 18419553 18419553 C T snp 2616.77 1/1 99 76 0 76 1.0 intronic rs9310557 SATB1 AU NM_001131010 exon3 c.29000-108C>T 0.688498 0.9216 Uncertain 3_18419859_G->A 3 18419859 18419859 G A snp 1786.77 1/1 99 49 0 49 1.0 intronic rs10460976 SATB1 AU NM_001131010 exon3 c.29156+42G>A 0.688299 0.9216 0.581116 0.6373 0.9221 Uncertain 3_18427924_G->T 3 18427924 18427924 G T snp 1791.77 1/1 99 67 0 67 1.0 exonic rs2229261 SATB1 AU synonymous SNV NM_001131010 exon8 c.C1386A p.P462P 0.689097 0.9226 0.581116 0.6373 0.9220 Uncertain 3_19436587_T->C 3 19436587 19436587 T C snp 403.77 0/1 99 20 4 16 0.8 intronic rs10470642 KCNH8 AU NM_144633 exon7 c.246384-8T>C 0.747204 0.6319 0.778794 0.6986 0.6391 Uncertain 3_19498233_G->T 3 19498233 19498233 G T snp 47.77 0/1 76 34 24 10 0.29 intronic rs78401549 KCNH8 AU NM_144633 exon11 c.308048-26G>T 0.0002 0 Uncertain 3_19959756_G->A 3 19959756 19959756 G A snp 595.77 0/1 99 74 46 28 0.38 exonic rs2929366 EFHB AU nonsynonymous SNV NM_144715 exon4 c.C1145T p.T382I 0.613019 0.3353 0.712825 0.6296 0.3307 0.0 P -1.013 T 0.0 T 0.001 T Pathogenic 3_19961330_C->T 3 19961330 19961330 C T snp 1233.77 0/1 99 97 45 52 0.54 exonic rs2931403 EFHB AU nonsynonymous SNV NM_144715 exon3 c.G991A p.V331I 0.672524 0.3353 0.784066 0.7198 0.3305 0.0 P -0.975 T 0.001 T 0.003 T Pathogenic 3_19961970_A->G 3 19961970 19961970 A G snp 1301.77 0/1 99 111 56 55 0.5 intronic EFHB AU NM_144715 exon12 c.40874-26A>G Uncertain 3_19962044_G->A 3 19962044 19962044 G A snp 1746.77 0/1 99 179 98 81 0.45 exonic rs13078867 EFHB AU nonsynonymous SNV NM_144715 exon2 c.C805T p.P269S 0.190895 0.2143 0.204290 0.2360 0.2141 0.067 P -1.030 T 0.873 T 0.554 P Pathogenic 3_19962223_G->A 3 19962223 19962223 G A snp 270.77 0/1 99 13 5 8 0.62 intronic rs13079262 EFHB AU NM_144715 exon12 c.40937+164G>A 0.191094 0.2143 Uncertain 3_19974700_T->C 3 19974700 19974700 T C snp 505.77 0/1 99 45 25 20 0.44 intronic rs2929350 EFHB AU NM_144715 exon13 c.53599-21T>C 0.55651 0.3492 0.645955 0.6456 0.3883 Uncertain 3_19975215_C->A 3 19975215 19975215 C A snp 3382.77 0/1 99 249 116 133 0.53 exonic rs17795400 EFHB AU nonsynonymous SNV NM_144715 exon1 c.G296T p.G99V 0.189696 0.2192 0.208307 0.2396 0.2076 0.0 P -0.942 T 0.012 T 0.004 T Pathogenic 3_19975582_A->G 3 19975582 19975582 A G snp 419.77 0/1 99 28 12 16 0.57 UTR5 rs2929349 EFHB AU 0.513379 0.3482 Uncertain 3_19977771_G->A 3 19977771 19977771 G A snp 358.77 0/1 99 31 17 14 0.45 intergenic rs145246030 EFHB AU 0.00339457 0.0169 0.0003 0.0156 0.999 N -0.952 T 0.111 T 0.02 T Uncertain 3_20113830_G->A 3 20113830 20113830 G A snp 1481.77 0/1 99 136 68 68 0.5 exonic rs3021408 KAT2B AU synonymous SNV NM_003884 exon2 c.G309A p.E103E 0.466454 0.4137 0.411349 0.4074 0.4354 Uncertain 3_20113989_C->A 3 20113989 20113989 C A snp 1077.77 0/1 99 108 59 49 0.45 intronic rs3749180 KAT2B AU NM_003884 exon2 c.31982+38C>A 0.466454 0.4137 0.411118 0.4075 0.4352 Uncertain 3_20114044_T->C 3 20114044 20114044 T C snp 493.77 0/1 99 48 28 20 0.42 intronic rs3828349 KAT2B AU NM_003884 exon2 c.31982+93T>C 0.481629 0.4137 Uncertain 3_20114048_G->A 3 20114048 20114048 G A snp 491.77 0/1 99 45 26 19 0.42 intronic rs3828348 KAT2B AU NM_003884 exon2 c.31982+97G>A 0.466454 0.4137 Uncertain 3_20136611_C->T 3 20136611 20136611 C T snp 278.77 0/1 99 15 4 11 0.73 intronic rs2293140 KAT2B AU NM_003884 exon3 c.54785-143C>T 0.49361 0.5913 Uncertain 3_20136645_A->T 3 20136645 20136645 A T snp 538.77 0/1 99 35 14 21 0.6 intronic rs2293141 KAT2B AU NM_003884 exon3 c.54785-109A>T 0.49381 0.5913 Uncertain 3_20136683_T->G 3 20136683 20136683 T G snp 815.77 0/1 99 64 31 33 0.52 intronic rs2293142 KAT2B AU NM_003884 exon3 c.54785-71T>G 0.31869 0.4008 Uncertain 3_20136959_A->G 3 20136959 20136959 A G snp 188.77 0/1 99 13 6 7 0.54 intronic rs12636856 KAT2B AU NM_003884 exon3 c.54931+59A>G 0.173922 0.3839 Uncertain 3_20141522_A->G 3 20141522 20141522 A G snp 576.77 0/1 99 69 43 26 0.38 intronic rs13323791 KAT2B AU NM_003884 exon4 c.59477+76A>G 0.333466 0.4147 Uncertain 3_20142360_T->C 3 20142360 20142360 T C snp 366.77 0/1 96 18 6 12 0.67 intronic rs4858764 KAT2B AU NM_003884 exon5 c.60809-418T>C 0.683706 0.6101 Uncertain 3_20143020_G->C 3 20143020 20143020 G C snp 1420.77 0/1 99 101 43 58 0.57 intronic rs4858155 KAT2B AU NM_003884 exon5 c.60991+60G>C 0.682907 0.6101 Uncertain 3_20156302_T->C 3 20156302 20156302 T C snp 146.77 0/1 99 13 5 8 0.62 intronic rs2365794 KAT2B AU NM_003884 exon7 c.74404-71T>C 0.684305 0.6101 Uncertain 3_20161096_A->G 3 20161096 20161096 A G snp 2102.77 0/1 99 173 85 88 0.51 exonic rs17006625 KAT2B AU nonsynonymous SNV NM_003884 exon8 c.A1157G p.N386S 0.0750799 0.2054 0.023912 0.0320 0.2187 0.84 T 0.000 P -0.930 T 0.002 T 0.001 T Pathogenic 3_20179033_-->T 3 20179033 20179033 - T indel 376.73 0/1 99 87 46 41 0.47 intronic rs200097819 KAT2B AU NM_003884 exon12 c.96575+489insT 0.379992 0.5397 0.2681 0.5714 Uncertain 3_20179097_C->T 3 20179097 20179097 C T snp 390.77 0/1 99 55 36 19 0.35 ncRNA_exonic rs6787734 MIR3135A AU 0.422324 0.5794 0.2569 0.6562 Uncertain 3_20181676_T->C 3 20181676 20181676 T C snp 69.77 0/1 98 22 16 6 0.27 intronic rs3762633 KAT2B AU NM_003884 exon13 c.99743-36T>C 0.423522 0.5784 0.242848 0.2404 0.6479 Uncertain 3_20188074_C->T 3 20188074 20188074 C T snp 598.77 1/1 45 20 0 20 1.0 intronic rs2686314 KAT2B AU NM_003884 exon14 c.105953+152C>T 0.922524 0.9504 Uncertain 3_20188164_T->A 3 20188164 20188164 T A snp 54.74 1/1 6 2 0 2 1.0 intronic rs56930557 KAT2B AU NM_003884 exon14 c.105953+242T>A 0.598842 0.6944 Uncertain 3_20212189_A->G 3 20212189 20212189 A G snp 475.77 1/1 36 15 0 15 1.0 intronic rs1052930 SGOL1 AU NM_001199252 exon2 c.9619-26A>G 0.821486 0.9464 0.700169 0.7171 0.9617 Uncertain 3_20212527_A->G 3 20212527 20212527 A G snp 929.77 0/1 99 60 24 36 0.6 intronic rs76076594 SGOL1 AU NM_001199251 exon2 c.339-7A>G 0.0736821 0.1935 0.022682 0.0325 0.2076 Uncertain 3_20212621_T->G 3 20212621 20212621 T G snp 674.77 0/1 99 66 35 31 0.47 exonic rs75326306 SGOL1 AU synonymous SNV NM_001199252 exon7 c.A1386C p.P462P 0.0736821 0.1935 0.022297 0.0303 0.2009 Uncertain 3_20216519_T->A 3 20216519 20216519 T A snp 682.77 0/1 99 52 20 32 0.62 exonic rs61729306 SGOL1 AU synonymous SNV NM_001199252 exon6 c.A504T p.T168T 0.265775 0.4167 0.164026 0.2281 0.3773 Uncertain 3_20219694_T->G 3 20219694 20219694 T G snp 586.77 1/1 45 18 0 18 1.0 ncRNA_intronic rs6550401 SGOL1-AS1 AU 0.458466 0.747 Uncertain 3_20219885_C->T 3 20219885 20219885 C T snp 2003.77 1/1 99 76 0 76 1.0 ncRNA_intronic rs6550402 SGOL1-AS1 AU 0.70008 0.9444 0.520859 0.5733 0.9596 Uncertain 3_21462754_A->G 3 21462754 21462754 A G snp 2338.77 1/1 99 90 0 90 1.0 exonic rs451242 ZNF385D AU synonymous SNV NM_024697 exon8 c.T1140C p.P380P 0.801118 0.8988 0.756266 0.7835 0.9078 Uncertain 3_21462787_G->A 3 21462787 21462787 G A snp 3187.75 1/1 99 117 0 117 1.0 exonic rs427233 ZNF385D AU synonymous SNV NM_024697 exon8 c.C1107T p.S369S 0.915735 0.999 0.872597 0.8557 0.9988 Uncertain 3_21462880_A->G 3 21462880 21462880 A G snp 3058.77 1/1 99 116 0 116 1.0 exonic rs4455340 ZNF385D AU synonymous SNV NM_024697 exon8 c.T1014C p.N338N 0.246206 0.3462 0.248501 0.2844 0.3924 Uncertain 3_21606028_T->- 3 21606028 21606028 T - indel 351.73 0/1 99 29 12 17 0.59 ncRNA_intronic rs397755308 ZNF385D-AS1 AU 0.41853 0.3859 0.4893 0.4691 Uncertain 3_21706369_G->A 3 21706369 21706369 G A snp 1634.77 0/1 99 159 88 71 0.45 intronic rs3821396 ZNF385D AU NM_024697 exon7 c.243672-8G>A 0.0892572 0.1458 0.083654 0.1158 0.1670 Uncertain 3_23312442_C->G 3 23312442 23312442 C G snp 1779.77 0/1 99 197 106 91 0.46 intronic rs79914633 UBE2E2 AU NM_152653 exon3 c.8613+53639C>G 0.0427316 0.1121 0.0226 0.1010 Uncertain 3_23541057_A->G 3 23541057 23541057 A G snp 620.77 0/1 99 67 36 31 0.46 ncRNA_intronic rs1011754 MIR548AC AU 0.0459265 0.1141 0.022374 0.0416 0.1291 Uncertain 3_23852857_G->T 3 23852857 23852857 G T snp 722.77 0/1 99 51 22 29 0.57 intronic rs117927025 UBE2E1 AU NM_003341 exon3 c.4190-93G>T 0.00339457 0.0159 Uncertain 3_23960080_G->C 3 23960080 23960080 G C snp 1004.77 0/1 99 83 41 42 0.51 intronic rs35054246 RPL15 AD NM_002948 exon3 c.717+13G>C 0.0690895 0.2341 0.031063 0.0547 0.2619 Uncertain 3_23986930_A->C 3 23986930 23986930 A C snp 40.77 0/1 69 5 3 2 0.4 UTR5 rs4858565 NR1D2 AU 0.770367 0.4752 Uncertain 3_23987002_-->GGC 3 23987002 23987002 - GGC indel 506.73 0/1 99 31 19 12 0.39 UTR5 rs369955272 NR1D2 AU 0.429712 0.2391 0.204407 Uncertain 3_23996371_T->G 3 23996371 23996371 T G snp 523.77 0/1 99 41 21 20 0.49 intronic rs4858095 NR1D2 AU NM_001145425 exon2 c.58+77T>G 0.720248 0.5298 Uncertain 3_24001078_C->T 3 24001078 24001078 C T snp 40.77 0/1 69 5 3 2 0.4 intronic rs4321479 NR1D2 AU NM_001145425 exon4 c.4925-83C>T 0.741414 0.4931 Uncertain 3_24006477_T->A 3 24006477 24006477 T A snp 2202.77 1/1 99 74 0 74 1.0 exonic rs4858097 NR1D2 AU nonsynonymous SNV NM_001145425 exon6 c.T931A p.L311M 1 1 0.9999 1 1 T 0.000 P -0.921 T 0.0 T 0.01 T Pathogenic 3_24009279_A->C 3 24009279 24009279 A C snp 475.77 0/1 99 33 12 21 0.64 intronic rs67657770 NR1D2 AU NM_001145425 exon7 c.13067-24A>C 0.355631 0.4256 0.361955 0.4326 0.4803 Uncertain 3_24169361_T->C 3 24169361 24169361 T C snp 2061.77 1/1 99 62 0 62 1.0 intronic rs1667765 THRB AR,AD NM_000461 exon2 c.4874+113T>C 0.216254 0.5536 Uncertain 3_24270500_-->A 3 24270500 24270500 - A indel 220.73 0/1 99 19 7 12 0.63 intronic rs3836253 THRB AR,AD NM_000461 exon8 c.106118+8insA 0.3224 0.5321 Uncertain 3_24562877_G->T 3 24562877 24562877 G T snp 2878.77 0/1 99 242 120 122 0.5 ncRNA_exonic rs11714172 MIR4792 AU 0.647963 0.5238 0.75 . Uncertain 3_25470118_-->A 3 25470118 25470118 - A indel 345.73 0/1 99 31 17 14 0.45 UTR5 rs201784042 RARB AD 0.00778754 0.0099 Uncertain 3_25502851_G->A 3 25502851 25502851 G A snp 957.77 0/1 99 77 36 41 0.53 intronic rs77748152 RARB AD NM_001290277 exon2 c.32610+19G>A 0.0642971 0.0615 0.028448 0.0649 0.0544 Uncertain 3_25611473_AC->- 3 25611473 25611474 AC - indel 393.73 1/1 39 25 0 25 1.0 intronic rs397988973 RARB AD NM_001290277 exon4 c.141187+64_141187+65delAC Uncertain 3_25639973_-->T 3 25639973 25639973 - T indel 727.73 0/1 99 69 29 40 0.58 splicing rs11372851 TOP2B AU NM_001068 exon1 c.171+5insT 0.410942 0.3175 0.414513 0.4119 0.3304 Pathogenic 3_25646268_G->A 3 25646268 25646268 G A snp 807.77 0/1 99 89 54 35 0.39 exonic rs61751634 TOP2B AU nonsynonymous SNV NM_001068 exon33 c.C4457T p.T1486M 0.043131 0.1319 0.001101 0.0204 0.1539 0.06 T 0.995 P -1.081 T 0.985 D 0.609 D Pathogenic 3_25660094_-->T 3 25660094 25660094 - T indel 302.73 0/1 99 32 16 16 0.5 intronic rs3835194 TOP2B AU NM_001068 exon13 c.20347-50insT 0.310265 Uncertain 3_25661557_-->A 3 25661557 25661557 - A indel 199.73 0/1 99 15 6 9 0.6 splicing rs3832214 TOP2B AU NM_001068 exon14 c.21756+4insA 0.354233 0.3115 0.317500 0.3225 0.3270 Pathogenic 3_25666156_C->T 3 25666156 25666156 C T snp 1220.77 0/1 99 124 70 54 0.44 intronic rs2293787 TOP2B AU NM_001068 exon18 c.26375-16C>T 0.127796 0.1786 0.126403 0.1646 0.1906 Uncertain 3_25671778_C->T 3 25671778 25671778 C T snp 982.77 0/1 99 118 71 47 0.4 intronic rs3736605 TOP2B AU NM_001068 exon25 c.32005-24C>T 0.333267 0.3085 0.260730 0.3018 0.3256 Uncertain 3_25674091_C->A 3 25674091 25674091 C A snp 611.77 0/1 99 60 35 25 0.42 intronic rs3736601 TOP2B AU NM_001068 exon27 c.34277+17C>A 0.283746 0.3085 0.246368 0.2868 0.3051 Uncertain 3_25678926_T->C 3 25678926 25678926 T C snp 310.77 0/1 99 25 12 13 0.52 intronic rs2272430 TOP2B AU NM_001068 exon31 c.39006+123T>C 0.0157748 0.0784 Uncertain 3_25679738_T->C 3 25679738 25679738 T C snp 417.77 0/1 99 48 26 22 0.46 exonic rs60422476 TOP2B AU synonymous SNV NM_001068 exon5 c.A444G p.V148V 0.335863 0.3095 0.297031 0.3412 0.4058 Uncertain 3_25706277_A->C 3 25706277 25706277 A C snp 1579.77 0/1 99 162 91 71 0.44 upstream;downstream rs10433573 TOP2B;MIR4442 UN 0.374002 0.3085 Uncertain 3_25706340_-->GCC 3 25706340 25706340 - GCC indel 4036.73 0/1 99 243 119 124 0.51 upstream;downstream rs748346667 TOP2B;MIR4442 UN 0 0 Uncertain 3_25775253_T->C 3 25775253 25775253 T C snp 468.77 1/1 36 13 0 13 1.0 intronic rs1488992 NGLY1 AR NM_018297 exon5 c.14412-109T>C 0.703275 0.9286 Uncertain 3_25775356_A->C 3 25775356 25775356 A C snp 3201.82 1/1 99 119 0 119 1.0 intronic rs6550987 NGLY1 AR NM_018297 exon5 c.14412-6A>C 0.800319 0.9286 0.821928 0.8404 0.9392 Uncertain 3_25805879_T->C 3 25805879 25805879 T C snp 717.77 1/1 54 22 0 22 1.0 intronic rs11129208 NGLY1 AR NM_018297 exon10 c.44852+77T>C 0.6873 0.9286 Uncertain 3_25836023_C->T 3 25836023 25836023 C T snp 730.77 1/1 57 20 0 20 1.0 UTR3 rs9831075 OXSM AU 0.741014 0.9226 0.764567 0.8142 0.9365 Uncertain 3_25836088_C->A 3 25836088 25836088 C A snp 176.9 1/1 15 5 0 5 1.0 downstream rs9834955 OXSM AU 0.747005 0.9226 Uncertain 3_25902401_G->C 3 25902401 25902401 G C snp 133.03 1/1 12 5 0 5 1.0 ncRNA_intronic rs4681082 LINC00692 AU 0.789337 0.9653 Uncertain 3_25904394_T->C 3 25904394 25904394 T C snp 707.77 1/1 51 25 0 25 1.0 ncRNA_intronic rs6550999 LINC00692 AU 0.640974 0.9524 Uncertain 3_27243771_C->T 3 27243771 27243771 C T snp 59.74 1/1 6 3 0 3 1.0 intergenic rs9818746 LRRC3B AU 0.0247604 0.0268 Uncertain 3_27387462_-->GTAA 3 27387462 27387462 - GTAA indel 990.73 1/1 45 15 0 15 1.0 intronic rs56104872 NEK10 AU NM_152534 exon35 c.234814-114insGTAA 0.793331 0.8631 Uncertain 3_27387463_C->A 3 27387463 27387463 C A snp 519.77 1/1 39 16 0 16 1.0 intronic rs2370957 NEK10 AU NM_152534 exon35 c.234814-113C>A 0.79353 0.8631 Uncertain 3_27424718_A->G 3 27424718 27424718 A G snp 6058.77 1/1 99 242 0 242 1.0 exonic rs1472256 SLC4A7 AU synonymous SNV NM_003615 exon24 c.T3489C p.D1163D 0.927716 1 0.916808 0.9370 0.9998 Uncertain 3_27433397_A->T 3 27433397 27433397 A T snp 521.77 1/1 39 19 0 19 1.0 intronic rs2307035 SLC4A7 AU NM_003615 exon5 c.15045+98A>T 0.33766 0.7282 Uncertain 3_27444524_G->C 3 27444524 27444524 G C snp 170.9 1/1 15 5 0 5 1.0 intronic rs1967131 SLC4A7 AU NM_003615 exon11 c.26375-105G>C 0.341454 0.7292 Uncertain 3_27451106_G->C 3 27451106 27451106 G C snp 349.78 1/1 27 9 0 9 1.0 intronic rs9828914 SLC4A7 AU NM_003615 exon13 c.32767+85G>C 0.426118 0.7312 Uncertain 3_27489996_A->G 3 27489996 27489996 A G snp 80.28 1/1 9 3 0 3 1.0 intronic rs9883830 SLC4A7 AU NM_003615 exon23 c.71887-145A>G 0.927516 1 Uncertain 3_27494620_A->T 3 27494620 27494620 A T snp 1095.77 1/1 78 37 0 37 1.0 intronic rs12639265 SLC4A7 AU NM_003615 exon24 c.75735+631A>T 0.414736 0.7282 Uncertain 3_27763427_-->CGGCGC 3 27763427 27763427 - CGGCGC indel 2007.73 1/1 78 26 0 26 1.0 exonic rs3062761 EOMES AU nonframeshift insertion NM_005442 exon1 c.358_359insGCGCCG p.A120delinsGAA 0.536142 0.8363 0.127081 0.4783 0.8182 Uncertain 3_28366110_T->G 3 28366110 28366110 T G snp 141.77 0/1 99 13 8 5 0.38 intronic rs75035657 AZI2 AU NM_022461 exon1 c.413+165T>G 0.00439297 0.0188 Uncertain 3_28520417_T->A 3 28520417 28520417 T A snp 642.77 0/1 99 77 43 34 0.44 exonic rs1563656 ZCWPW2 AU nonsynonymous SNV NM_001040432 exon5 c.T605A p.L202Q 0.454673 0.6171 0.401400 0.4350 0.6247 0.62 T 0.0 P -0.960 T 0.0 T 0.0 T Pathogenic 3_28520576_T->C 3 28520576 28520576 T C snp 43.77 0/1 72 4 2 2 0.5 intronic rs60690028 ZCWPW2 AU NM_001040432 exon5 c.65863+154T>C 0.473442 0.6478 Uncertain 3_28533458_A->G 3 28533458 28533458 A G snp 552.77 0/1 99 40 15 25 0.63 intronic rs13099814 ZCWPW2 AU NM_001040432 exon6 c.79058-159A>G 0.460863 0.6488 Uncertain 3_28533658_G->A 3 28533658 28533658 G A snp 391.77 0/1 99 32 15 17 0.53 exonic rs13100556 ZCWPW2 AU synonymous SNV NM_001040432 exon6 c.G651A p.K217K 0.25599 0.4653 0.138419 0.2038 0.4497 1.000 P -0.901 T Likely benign 3_28552644_G->T 3 28552644 28552644 G T snp 130.77 0/1 99 27 19 8 0.3 intronic rs4680751 ZCWPW2 AU NM_001040432 exon7 c.100995-2910G>T 0.261581 0.4514 0.2568 0.4560 Uncertain 3_28557236_G->A 3 28557236 28557236 G A snp 34.77 0/1 63 7 5 2 0.29 intronic rs7617655 ZCWPW2 AU NM_001040432 exon8 c.102553+124G>A 0.452476 0.6081 Uncertain 3_29224687_G->A 3 29224687 29224687 G A snp 635.77 0/1 99 37 10 27 0.73 intergenic rs1545105 LINC00693 AU 0.166933 0.3512 Uncertain 3_29476428_G->A 3 29476428 29476428 G A snp 906.77 0/1 99 43 7 36 0.84 intronic rs3773018 RBMS3 AU NM_001177711 exon2 c.153234+22G>A 0.470647 0.5446 0.419576 0.4332 0.5298 Uncertain 3_29529907_G->A 3 29529907 29529907 G A snp 1402.77 1/1 99 47 0 47 1.0 intronic rs2371695 RBMS3 AU NM_001177711 exon3 c.206759-24G>A 0.544728 0.4603 0.571813 0.5476 0.4522 Uncertain 3_29529914_TC->- 3 29529914 29529915 TC - indel 2101.73 1/1 99 50 0 50 1.0 intronic rs3043392 RBMS3 AU NM_001177711 exon3 c.206759-17_206759-16delTC 0.54972 0.4603 0.5587 0.4523 Uncertain 3_29628479_A->T 3 29628479 29628479 A T snp 375.77 0/1 99 40 25 15 0.38 intronic rs3773103 RBMS3 AU NM_001177711 exon4 c.305432-125A>T 0.222045 0.3284 Uncertain 3_29628639_C->T 3 29628639 29628639 C T snp 1710.77 0/1 99 179 99 80 0.45 exonic rs3773104 RBMS3 AU synonymous SNV NM_001003792 exon4 c.C339T p.A113A 0.117412 0.3284 0.031216 0.0669 0.3283 Uncertain 3_29977739_T->C 3 29977739 29977739 T C snp 1529.77 0/1 99 137 72 65 0.47 intronic rs1449287 RBMS3 AU NM_001177711 exon11 c.654515+52T>C 0.838858 0.9544 0.836496 0.8864 0.9615 Uncertain 3_30029724_C->T 3 30029724 30029724 C T snp 1170.77 0/1 99 99 49 50 0.51 intronic rs1868491 RBMS3 AU NM_001177711 exon12 c.706542+10C>T 0.240415 0.3452 0.208135 0.2449 0.3332 Uncertain 3_30032470_T->C 3 30032470 30032470 T C snp 137.77 0/1 99 17 12 5 0.29 intronic rs3773125 RBMS3 AU NM_001177711 exon13 c.709400-102T>C 0.252596 0.38 Uncertain 3_30032530_A->G 3 30032530 30032530 A G snp 1562.77 1/1 99 50 0 50 1.0 intronic rs2197896 RBMS3 AU NM_001177711 exon13 c.709400-42A>G 0.380192 0.3423 0.269722 0.1839 0.3428 Uncertain 3_30769931_G->A 3 30769931 30769931 G A snp 173.77 0/1 99 23 15 8 0.35 intronic rs12054099 GADL1 AU NM_207359 exon1 c.174+24G>A 0.148962 0.2232 0.101338 0.1240 0.2324 Uncertain 3_30827725_G->A 3 30827725 30827725 G A snp 180.77 0/1 99 16 10 6 0.38 intronic rs58010707 GADL1 AU NM_207359 exon3 c.58113-121G>A 0.0680911 0.3145 Uncertain 3_30827904_A->G 3 30827904 30827904 A G snp 902.77 0/1 99 70 35 35 0.5 splicing rs6550024 GADL1 AU NM_207359 exon3 c.58165+6A>G 0.346446 0.4831 0.190909 0.1655 0.5080 Pathogenic 3_30842347_AGAG->- 3 30842347 30842350 AGAG - indel 297.73 0/1 99 12 6 6 0.5 intronic rs10553550 GADL1 AU NM_207359 exon4 c.72647-33_72647-30delAGAG 0.4655 0.3696 Uncertain 3_30842597_-->T 3 30842597 30842597 - T indel 375.73 0/1 99 24 11 13 0.54 intronic rs397764910 GADL1 AU NM_207359 exon4 c.72847+17insT 0.297524 0.1974 0.397301 0.4421 0.1914 Uncertain 3_30885806_T->C 3 30885806 30885806 T C snp 1757.77 0/1 99 135 62 73 0.54 intronic rs1494738 GADL1 AU NM_207359 exon8 c.116023+50T>C 0.520567 0.624 0.417423 0.4383 0.6500 Uncertain 3_30898459_AAG->- 3 30898459 30898461 AAG - indel 1210.73 0/1 99 41 18 23 0.56 intronic rs141606916 GADL1 AU NM_207359 exon13 c.128773-47_128773-45delAAG 0.038738 0.1379 0.001139 0.0186 0.1193 Uncertain 3_30903008_T->C 3 30903008 30903008 T C snp 796.77 0/1 99 43 18 25 0.58 intronic rs6774917 GADL1 AU NM_207359 exon14 c.133351-76T>C 0.260783 0.4851 Uncertain 3_30903304_C->T 3 30903304 30903304 C T snp 2166.77 0/1 99 147 66 81 0.55 intronic rs1393745 GADL1 AU NM_207359 exon14 c.133524+47C>T 0.260583 0.4851 0.171923 0.2012 0.4655 Uncertain 3_31494587_G->A 3 31494587 31494587 G A snp 42.78 0/1 27 3 1 2 0.67 intergenic rs17027714 MIR466 AU 0.326078 0.623 Uncertain 3_31621228_-->AAA 3 31621228 31621228 - AAA indel 813.73 1/1 39 13 0 13 1.0 intronic rs58289734 STT3B AR NM_178862 exon3 c.46810-72insAAA 0.925719 0.9792 Uncertain 3_31642037_A->T 3 31642037 31642037 A T snp 467.77 0/1 99 32 12 20 0.63 intronic rs11713598 STT3B AR NM_178862 exon5 c.67461+86A>T 0.503994 0.3839 Uncertain 3_31663515_-->GTGTG 3 31663515 31663515 - GTGTG indel 930.73 1/1 36 12 0 12 1.0 intronic rs10662891 STT3B AR NM_178862 exon10 c.89098-73insGTGTG 0.998203 1 Uncertain 3_31677395_T->G 3 31677395 31677395 T G snp 351.78 1/1 27 10 0 10 1.0 intronic rs11129457 STT3B AR NM_178862 exon16 c.102985-80T>G 0.925319 0.9792 Uncertain 3_31703464_T->C 3 31703464 31703464 T C snp 615.77 0/1 99 46 19 27 0.59 UTR3 rs11058 OSBPL10 AU 0.218051 0.2946 Uncertain 3_31712176_G->T 3 31712176 31712176 G T snp 853.77 0/1 99 62 30 32 0.52 intronic rs3749406 OSBPL10 AU NM_001174060 exon4 c.8725-112G>T 0.56889 0.6746 Uncertain 3_31712393_C->T 3 31712393 31712393 C T snp 2769.77 0/1 99 248 135 113 0.46 exonic rs3749405 OSBPL10 AU synonymous SNV NM_001174060 exon8 c.G1617A p.P539P 0.565495 0.6756 0.494003 0.4289 0.6748 1.000 P -1.016 T Likely benign 3_31789582_T->C 3 31789582 31789582 T C snp 751.77 0/1 99 73 39 34 0.47 exonic rs2290532 OSBPL10 AU nonsynonymous SNV NM_001174060 exon4 c.A568G p.N190D 0.427516 0.7401 0.329463 0.4792 0.7564 0.83 T 0.557 P -1.057 T 0.992 D 0.724 D Pathogenic 3_31789724_C->T 3 31789724 31789724 C T snp 187.77 0/1 99 17 9 8 0.47 intronic rs2290533 OSBPL10 AU NM_001174060 exon8 c.86049+112C>T 0.428714 0.748 Uncertain 3_31839097_C->T 3 31839097 31839097 C T snp 133.03 1/1 12 4 0 4 1.0 intronic rs7628972 OSBPL10 AU NM_017784 exon9 c.167968-32434C>T 0.738019 0.8194 Uncertain 3_31839135_A->G 3 31839135 31839135 A G snp 672.77 1/1 51 20 0 20 1.0 intronic rs7653447 OSBPL10 AU NM_017784 exon9 c.167968-32396A>G 0.609225 0.7986 Uncertain 3_31839242_T->C 3 31839242 31839242 T C snp 4031.77 1/1 99 156 1 155 0.99 intronic rs7643025 OSBPL10 AU NM_017784 exon9 c.167968-32289T>C 0.802117 0.8204 0.7718 0.8586 Uncertain 3_32022680_G->C 3 32022680 32022680 G C snp 252.77 0/1 60 15 3 12 0.8 UTR5 rs76150980 OSBPL10 AU 0.167133 0.4603 0.038956 0.1507 0.5 Uncertain 3_32031962_A->G 3 32031962 32031962 A G snp 1637.77 0/1 99 163 94 69 0.42 exonic rs1808125 ZNF860 AU nonsynonymous SNV NM_001137674 exon2 c.A1391G p.H464R 0.621805 0.7599 0.0481 0.3705 0.0 P -0.948 T 0.004 T 0.001 T Pathogenic 3_32181684_G->A 3 32181684 32181684 G A snp 308.77 0/1 99 19 8 11 0.58 intronic rs72546656 GPD1L AU NM_015141 exon4 c.33516-35G>A 0.0792732 0.2817 0.003614 0.0410 0.2601 Uncertain 3_32187990_C->G 3 32187990 32187990 C G snp 71.77 0/1 99 8 5 3 0.38 intronic rs72558072 GPD1L AU NM_015141 exon5 c.39910-123C>G 0.0798722 0.2817 Uncertain 3_32188006_G->A 3 32188006 32188006 G A snp 233.77 0/1 99 13 5 8 0.62 intronic rs9839702 GPD1L AU NM_015141 exon5 c.39910-107G>A 0.467252 0.4911 Uncertain 3_32200233_G->A 3 32200233 32200233 G A snp 772.77 1/1 57 24 0 24 1.0 intronic rs2305362 GPD1L AU NM_015141 exon6 c.52164-134G>A 0.669329 0.8829 Uncertain 3_32200322_T->C 3 32200322 32200322 T C snp 1109.77 0/1 99 90 46 44 0.49 intronic rs2305361 GPD1L AU NM_015141 exon6 c.52164-45T>C 0.479433 0.6022 0.383751 0.4000 0.6116 Uncertain 3_32201182_G->A 3 32201182 32201182 G A snp 997.77 0/1 99 84 39 45 0.54 intronic rs72546643 GPD1L AU NM_015141 exon7 c.52963+16G>A 0.0784744 0.2798 0.003384 0.0422 0.2661 Uncertain 3_32207606_A->G 3 32207606 32207606 A G snp 354.77 0/1 99 25 13 12 0.48 UTR3 rs6799559 GPD1L AU 0.478834 0.6022 Uncertain 3_32280542_C->G 3 32280542 32280542 C G snp 1359.77 0/1 99 109 50 59 0.54 exonic rs76321736 CMTM8 AU nonsynonymous SNV NM_178868 exon1 c.C78G p.S26R 0.00638978 0.0317 0.0042 0.0650 0.33 T 0.739 N -1.109 T 0.0 T 0.001 T Pathogenic 3_32399181_G->A 3 32399181 32399181 G A snp 46.77 0/1 33 3 1 2 0.67 intronic rs2289244 CMTM8 AU NM_178868 exon2 c.118574+143G>A 0.611621 0.8036 Uncertain 3_32433333_C->A 3 32433333 32433333 C A snp 41.77 0/1 70 7 4 3 0.43 UTR5 rs3732846 CMTM7 AU 0.0872604 0.124 Uncertain 3_32433342_T->C 3 32433342 32433342 T C snp 46.77 0/1 64 7 4 3 0.43 UTR5 rs149855043 CMTM7 AU 0.090655 0.124 Uncertain 3_32493682_A->G 3 32493682 32493682 A G snp 3104.77 1/1 99 106 0 106 1.0 intronic rs342745 CMTM7 AU NM_138410 exon4 c.60485-201A>G 0.721645 0.5546 Uncertain 3_32493845_T->A 3 32493845 32493845 T A snp 1035.77 0/1 99 64 25 39 0.61 intronic rs3732842 CMTM7 AU NM_138410 exon4 c.60485-38T>A 0.0145767 0.0685 0.000923 0.0082 0.0834 ID=COSN166834;OCCURENCE=1(haematopoietic_and_lymphoid_tissue) Uncertain 3_32758763_G->A 3 32758763 32758763 G A snp 473.77 0/1 99 47 28 19 0.4 intronic rs11129531 CNOT10 AU NM_015442 exon7 c.31777+34G>A 0.388978 0.4494 0.5447 0.5003 Uncertain 3_32761481_A->G 3 32761481 32761481 A G snp 99.28 1/1 9 3 0 3 1.0 intronic rs13092303 CNOT10 AU NM_015442 exon8 c.34653-124A>G 0.98762 0.9891 Uncertain 3_32766905_A->G 3 32766905 32766905 A G snp 766.77 0/1 99 58 28 30 0.52 intronic rs6550155 CNOT10 AU NM_015442 exon9 c.39989-36A>G 0.300719 0.2669 0.284177 0.2648 0.2737 Uncertain 3_32801173_A->G 3 32801173 32801173 A G snp 749.77 0/1 99 62 32 30 0.48 intronic rs9832822 CNOT10 AU NM_015442 exon14 c.74111+110A>G 0.31889 0.2698 Uncertain 3_32815231_A->T 3 32815231 32815231 A T snp 775.77 1/1 57 24 0 24 1.0 UTR3 rs2396631 CNOT10 AU 0.980431 1 Uncertain 3_32915214_C->G 3 32915214 32915214 C G snp 3379.77 1/1 99 112 0 112 1.0 intronic rs6799979 TRIM71 AU NM_001039111 exon2 c.55737-95C>G 0.990216 1 Uncertain 3_32927509_G->T 3 32927509 32927509 G T snp 2499.77 1/1 99 89 0 89 1.0 exonic rs6774703 TRIM71 AU synonymous SNV NM_001039111 exon3 c.G1104T p.T368T 0.990615 1 0.993442 0.9980 1 Uncertain 3_32933344_-->TCTCTC 3 32933344 32933344 - TCTCTC indel 1049.73 ./1 99 45 1 44 0.98 UTR3 rs10630076 TRIM71 AU 0.0002 0.0004 Uncertain 3_32933344_-->TC 3 32933344 32933344 - TC indel 1049.73 ./1 99 45 1 44 0.98 UTR3 rs10630076 TRIM71 AU 0.3554 0.4558 Uncertain 3_33038747_C->G 3 33038747 33038747 C G snp 1987.77 0/1 99 161 79 82 0.51 exonic rs77226678 GLB1 AR synonymous SNV NM_000404 exon16 c.G1824C p.L608L 0.109425 0.4484 0.003339 0.0463 0.4204 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000078709.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 3_33055379_C->T 3 33055379 33055379 C T snp 71.77 0/1 99 7 4 3 0.43 intronic rs12633200 GLB1 AR NM_001135602 exon2 c.17011-168C>T 0.112819 0.4365 Uncertain 3_33055721_A->G 3 33055721 33055721 A G snp 2658.77 1/1 99 98 0 98 1.0 exonic rs4302331 GLB1 AR nonsynonymous SNV NM_000404 exon15 c.T1561C p.C521R 0.927117 1 0.932636 0.9800 1 0.6 T 0.0 P -0.966 T 0.0 T 0.0 T CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000153326.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 ID=CM051080;DIS=Gangliosidosis GM1;TAG=DM?;PUB=15714521 DM? Pathogenic 3_33087842_C->G 3 33087842 33087842 C G snp 394.77 0/1 99 39 22 17 0.44 intronic rs35000357 GLB1 AR NM_001135602 exon7 c.49188+118C>G 0.227436 0.4871 Uncertain 3_33087914_G->C 3 33087914 33087914 G C snp 141.03 1/1 12 4 0 4 1.0 intronic rs34173901 GLB1 AR NM_001135602 exon7 c.49188+190G>C 0.261981 0.5724 Uncertain 3_33093157_G->- 3 33093157 33093157 G - indel 445.73 0/1 99 23 9 14 0.61 intronic rs143982364 GLB1 AR NM_001135602 exon8 c.54713-92delG 0.178914 0.4921 Uncertain 3_33093190_T->C 3 33093190 33093190 T C snp 1323.77 1/1 96 41 0 41 1.0 intronic rs12632196 GLB1 AR NM_001135602 exon8 c.54713-59T>C 0.780152 1 0.744415 Uncertain 3_33095140_C->A 3 33095140 33095140 C A snp 615.77 0/1 99 37 13 24 0.65 intronic rs72856120 GLB1 AR NM_001135602 exon10 c.56505+99C>A 0.178714 0.4921 Uncertain 3_33095153_A->G 3 33095153 33095153 A G snp 495.77 0/1 99 28 10 18 0.64 intronic rs80059915 GLB1 AR NM_001135602 exon10 c.56505+112A>G 0.178714 0.4921 Uncertain 3_33095157_T->- 3 33095157 33095157 T - indel 526.73 0/1 99 26 8 18 0.69 intronic rs151205825 GLB1 AR NM_001135602 exon10 c.56505+116delT 0.114417 0.4167 Uncertain 3_33099880_T->C 3 33099880 33099880 T C snp 874.77 1/1 66 32 0 32 1.0 intronic rs7637435 GLB1 AR NM_000404 exon11 c.61225+119T>C 0.961661 1 Uncertain 3_33118631_G->A 3 33118631 33118631 G A snp 485.77 0/1 99 39 20 19 0.49 intronic rs9865342 GLB1 AR NM_001135602 exon12 c.75669+4426G>A 0.175519 0.371 0.1618 0.4222 Uncertain 3_33138544_A->G 3 33138544 33138544 A G snp 6560.77 1/1 99 250 1 249 1.0 exonic rs7614776 GLB1 AR synonymous SNV NM_000404 exon1 c.T34C p.L12L 0.927716 1 0.882562 0.9052 0.9996 Uncertain 3_33138549_G->A 3 33138549 33138549 G A snp 2735.77 0/1 99 250 127 123 0.49 exonic rs7637099 GLB1 AR nonsynonymous SNV NM_000404 exon1 c.C29T p.P10L 0.431909 0.4891 0.473956 0.5625 0.5149 0.65 T 0.0 P -0.791 T 0.0 T 0.0 T ID=CM055955;DIS=Gangliosidosis GM1;TAG=R;PUB=15791924 R Pathogenic 3_33155782_G->A 3 33155782 33155782 G A snp 2759.77 1/1 99 105 0 105 1.0 exonic rs11558338 CRTAP AR synonymous SNV NM_006371 exon1 c.G213A p.L71L 0.249002 0.503 0.125000 0.2187 0.5622 Uncertain 3_33161729_A->G 3 33161729 33161729 A G snp 2072.77 1/1 99 65 0 65 1.0 intronic rs4074416 CRTAP AR NM_006371 exon2 c.6266-106A>G 0.282548 0.5853 Uncertain 3_33161745_A->G 3 33161745 33161745 A G snp 2882.77 1/1 99 95 0 95 1.0 intronic rs4074415 CRTAP AR NM_006371 exon2 c.6266-90A>G 0.282548 0.5853 Uncertain 3_33161898_C->T 3 33161898 33161898 C T snp 4380.77 1/1 99 165 2 163 0.99 exonic rs4076086 CRTAP AR synonymous SNV NM_006371 exon2 c.C534T p.D178D 0.282348 0.5843 0.165693 0.1704 0.5791 Uncertain 3_33165436_T->A 3 33165436 33165436 T A snp 835.77 1/1 60 32 0 32 1.0 intronic rs6777433 CRTAP AR NM_006371 exon3 c.10330-463T>A 0.834065 0.9563 Uncertain 3_33171659_A->G 3 33171659 33171659 A G snp 2075.77 1/1 99 57 0 57 1.0 intronic rs4392367 CRTAP AR NM_006371 exon4 c.15990+100A>G 0.858027 0.9762 Uncertain 3_33174156_T->G 3 33174156 33174156 T G snp 1618.77 0/1 99 116 53 63 0.54 exonic rs1135127 CRTAP AR synonymous SNV NM_006371 exon5 c.T1032G p.T344T 0.29353 0.1548 0.384361 0.3752 0.1334 Uncertain 3_33174168_G->A 3 33174168 33174168 G A snp 1404.77 0/1 99 99 43 56 0.57 exonic rs1135128 CRTAP AR synonymous SNV NM_006371 exon5 c.G1044A p.S348S 0.29353 0.1548 0.384284 0.3751 0.1333 Uncertain 3_33175793_C->A 3 33175793 33175793 C A snp 3208.76 1/1 99 122 0 122 1.0 intronic rs4234239 CRTAP AR NM_006371 exon6 c.20188+36C>A 0.873802 0.9474 0.854529 0.8491 0.9642 Uncertain 3_33175854_A->G 3 33175854 33175854 A G snp 608.77 0/1 99 40 18 22 0.55 intronic rs58617854 CRTAP AR NM_006371 exon6 c.20188+97A>G 0.297724 0.1548 Uncertain 3_33194990_C->A 3 33194990 33194990 C A snp 2944.77 0/1 99 250 132 118 0.47 exonic rs6810039 SUSD5 AU nonsynonymous SNV NM_015551 exon5 c.G1134T p.E378D 0.659944 0.8542 0.488059 0.5157 0.8642 0.77 T 0.0 P -0.952 T 0.0 T 0.0 T Pathogenic 3_33255592_A->G 3 33255592 33255592 A G snp 2149.77 1/1 99 77 0 77 1.0 exonic rs9637517 SUSD5 AU nonsynonymous SNV NM_015551 exon2 c.T118C p.F40L 0.949681 0.995 0.893119 0.8990 0.9977 1 T 0.000 P -0.972 T 0.0 T 0.0 T Pathogenic 3_33260422_C->T 3 33260422 33260422 C T snp 135.77 0/1 99 10 5 5 0.5 UTR5 rs6764459 SUSD5 AU 0.245407 0.3284 Uncertain 3_33318798_G->A 3 33318798 33318798 G A snp 259.77 0/1 99 21 10 11 0.52 upstream rs77302970 FBXL2 AU 0.0790735 0.121 Uncertain 3_33344425_-->A 3 33344425 33344425 - A indel 270.73 0/1 99 22 12 10 0.45 intronic rs36064115 FBXL2 AU NM_001171713 exon2 c.20213+5208insA 0.105431 0.122 Uncertain 3_33406429_C->T 3 33406429 33406429 C T snp 148.77 0/1 99 8 3 5 0.63 intronic rs67835672 FBXL2 AU NM_001171713 exon5 c.87207+218C>T 0.339058 0.4534 Uncertain 3_33414468_G->C 3 33414468 33414468 G C snp 165.9 1/1 15 5 0 5 1.0 intronic rs4678933 FBXL2 AU NM_001171713 exon6 c.95579-115G>C 0.432508 0.5794 Uncertain 3_33414923_G->A 3 33414923 33414923 G A snp 1278.77 1/1 96 37 0 37 1.0 intronic rs2291898 FBXL2 AU NM_012157 exon7 c.95843+76G>A 0.514177 0.6052 Uncertain 3_33419422_C->T 3 33419422 33419422 C T snp 431.77 0/1 99 34 18 16 0.47 intronic rs2291897 FBXL2 AU NM_001171713 exon11 c.100590-172C>T 0.329073 0.4554 Uncertain 3_33420101_C->T 3 33420101 33420101 C T snp 827.77 0/1 99 57 30 27 0.47 intronic rs192775325 FBXL2 AU NM_001171713 exon12 c.101172-75C>T 0.000399361 0.002 Uncertain 3_33426883_C->G 3 33426883 33426883 C G snp 185.77 0/1 99 19 11 8 0.42 intronic rs17030546 FBXL2 AU NM_001171713 exon14 c.107988-109C>G 0.376997 0.4841 Uncertain 3_33426900_T->C 3 33426900 33426900 T C snp 355.77 0/1 99 29 16 13 0.45 intronic rs79517267 FBXL2 AU NM_001171713 exon14 c.107988-92T>C 0.0922524 0.125 Uncertain 3_33434831_G->A 3 33434831 33434831 G A snp 2433.77 1/1 99 97 0 97 1.0 exonic rs2293250 UBP1 AU synonymous SNV NM_001128160 exon13 c.C1398T p.T466T 0.540136 0.6141 0.492004 0.5018 0.625 Uncertain 3_33437544_T->C 3 33437544 33437544 T C snp 38.77 0/1 67 5 3 2 0.4 intronic rs3817476 UBP1 AU NM_001128161 exon4 c.5831-109T>C 0.321685 0.4563 Uncertain 3_33454342_G->A 3 33454342 33454342 G A snp 1303.77 0/1 99 90 42 48 0.53 intronic rs2272152 UBP1 AU NM_001128161 exon13 c.22497+23G>A 0.327276 0.4554 0.229125 0.2445 0.4961 Uncertain 3_33458266_T->C 3 33458266 33458266 T C snp 3427.77 1/1 99 132 0 132 1.0 exonic rs3736563 UBP1 AU nonsynonymous SNV NM_001128160 exon3 c.A326G p.N109S 0.479034 0.6091 0.368041 0.3842 0.6260 0.83 T 0.003 P -0.932 T 0.0 T 0.002 T Pathogenic 3_33481400_G->C 3 33481400 33481400 G C snp 845.77 0/1 99 58 23 35 0.6 UTR5 rs2272153 UBP1 AU 0.329872 0.4544 Uncertain 3_33540329_T->C 3 33540329 33540329 T C snp 109.77 0/1 60 6 2 4 0.67 intronic rs6782108 CLASP2 AU NM_015097 exon1 c.87+120T>C 0.332268 0.3661 Uncertain 3_33552004_T->C 3 33552004 33552004 T C snp 959.77 0/1 99 84 42 42 0.5 intronic rs2049281 CLASP2 AU NM_015097 exon3 c.11927-45T>C 0.341254 0.3651 0.276060 0.3210 0.3778 Uncertain 3_33552351_A->T 3 33552351 33552351 A T snp 80.77 0/1 99 6 3 3 0.5 intronic rs6767854 CLASP2 AU NM_015097 exon3 c.12134+95A>T 0.371206 0.3671 Uncertain 3_33555911_C->T 3 33555911 33555911 C T snp 128.03 1/1 12 4 0 4 1.0 intronic rs2049338 CLASP2 AU NM_015097 exon4 c.17392-1603C>T 1 1 Uncertain 3_33558407_T->C 3 33558407 33558407 T C snp 44.77 0/1 33 3 1 2 0.67 intronic rs1357541 CLASP2 AU NM_015097 exon5 c.18350-65T>C 0.395168 0.3661 Uncertain 3_33558808_T->C 3 33558808 33558808 T C snp 34.77 0/1 63 7 5 2 0.29 intronic rs7635999 CLASP2 AU NM_015097 exon5 c.18544+142T>C 0.422724 0.3681 Uncertain 3_33592978_-->T 3 33592978 33592978 - T indel 130.73 0/1 99 28 7 21 0.75 intronic rs34937822 CLASP2 AU NM_015097 exon10 c.52765+91insT 0.310304 0.3512 Uncertain 3_33605300_G->A 3 33605300 33605300 G A snp 1728.77 0/1 99 170 96 74 0.44 intronic rs7643855 CLASP2 AU NM_015097 exon12 c.62341+2837G>A 0.461262 0.3651 Uncertain 3_33615874_G->A 3 33615874 33615874 G A snp 186.77 0/1 99 27 17 10 0.37 intronic rs9841413 CLASP2 AU NM_015097 exon15 c.75842-90G>A 0.357827 0.3631 Uncertain 3_33617790_A->G 3 33617790 33617790 A G snp 1072.77 0/1 99 102 57 45 0.44 intronic rs4629282 CLASP2 AU NM_015097 exon16 c.77645+23A>G 0.216254 0.2708 0.135725 0.1911 0.3034 Uncertain 3_33648832_T->A 3 33648832 33648832 T A snp 353.77 0/1 99 33 14 19 0.58 intronic rs74657271 CLASP2 AU NM_015097 exon25 c.108753-43T>A 0.0177716 0.0327 0.003324 0.0157 0.0483 Uncertain 3_33653622_T->G 3 33653622 33653622 T G snp 589.77 0/1 99 40 16 24 0.6 intronic rs6807542 CLASP2 AU NM_015097 exon27 c.113441+59T>G 0.251597 0.2738 0.256680 Uncertain 3_33668663_TTAAGT->- 3 33668663 33668668 TTAAGT - indel 3540.73 0/1 99 92 46 46 0.5 intronic rs58744671 CLASP2 AU NM_015097 exon30 c.128450+91_128450+96delTTAAGT 0.251398 0.2718 Uncertain 3_33840114_T->C 3 33840114 33840114 T C snp 403.77 0/1 99 25 10 15 0.6 UTR5 rs1141054 PDCD6IP AU 0.4373 0.4107 Uncertain 3_33853747_C->T 3 33853747 33853747 C T snp 220.77 0/1 99 17 8 9 0.53 intronic rs9851801 PDCD6IP AU NM_001162429 exon2 c.13398+129C>T 0.326478 0.4107 Uncertain 3_33853765_AAGA->- 3 33853765 33853768 AAGA - indel 341.73 0/1 99 11 3 8 0.73 intronic rs143122830 PDCD6IP AU NM_001162429 exon2 c.13398+147_13398+150delAAGA 0.213858 0.3849 Uncertain 3_33863369_C->T 3 33863369 33863369 C T snp 376.77 0/1 99 17 6 11 0.65 intronic rs72619958 PDCD6IP AU NM_001162429 exon4 c.23226-77C>T 0.213858 0.3849 Uncertain 3_33863683_A->T 3 33863683 33863683 A T snp 143.77 0/1 99 16 10 6 0.38 intronic rs3762817 PDCD6IP AU NM_001162429 exon4 c.23354+109A>T 0.329473 0.4117 Uncertain 3_33863705_G->C 3 33863705 33863705 G C snp 83.77 0/1 63 5 2 3 0.6 intronic rs3762816 PDCD6IP AU NM_001162429 exon4 c.23354+131G>C 0.294329 0.3899 Uncertain 3_33866868_A->G 3 33866868 33866868 A G snp 798.77 0/1 99 57 27 30 0.53 intronic rs12488699 PDCD6IP AU NM_001162429 exon5 c.26612+36A>G 0.332268 0.4107 0.276684 0.3105 0.4276 Uncertain 3_33866929_G->T 3 33866929 33866929 G T snp 188.77 0/1 99 11 5 6 0.55 intronic rs12495243 PDCD6IP AU NM_001162429 exon5 c.26612+97G>T 0.329273 0.4107 Uncertain 3_33877508_T->A 3 33877508 33877508 T A snp 310.77 0/1 99 26 12 14 0.54 intronic rs3792595 PDCD6IP AU NM_001162429 exon8 c.37315-27T>A 0.213259 0.3849 0.092587 0.1723 0.4126 Uncertain 3_33877626_G->A 3 33877626 33877626 G A snp 2314.77 0/1 99 197 99 98 0.5 exonic rs3792594 PDCD6IP AU nonsynonymous SNV NM_001162429 exon8 c.G940A p.A314T 0.327276 0.4067 0.275796 0.3074 0.4181 0.49 T 0.010 P -0.901 T 0.002 T 0.013 T Pathogenic 3_33879603_TA->- 3 33879603 33879604 TA - indel 438.79 0/1 19 11 1 10 0.91 intronic rs369198522 PDCD6IP AU NM_001162429 exon9 c.39475-92_39475-91delTA 0.298123 0.3889 Uncertain 3_33879770_G->A 3 33879770 33879770 G A snp 740.77 0/1 99 92 54 38 0.41 exonic rs3203777 PDCD6IP AU nonsynonymous SNV NM_001162429 exon9 c.G1147A p.V383I 0.29353 0.3442 0.322082 0.3795 0.3242 0.25 T 1.000 P -0.908 T 0.022 T 0.056 T Pathogenic 3_33887102_A->G 3 33887102 33887102 A G snp 1439.77 0/1 99 116 59 57 0.49 intronic rs11928792 PDCD6IP AU NM_001162429 exon12 c.46860+22A>G 0.330471 0.4107 0.276026 0.3110 0.4248 Uncertain 3_33887178_A->T 3 33887178 33887178 A T snp 336.77 0/1 99 21 10 11 0.52 intronic rs11928817 PDCD6IP AU NM_001162429 exon12 c.46860+98A>T 0.214257 0.3849 Uncertain 3_33895391_A->G 3 33895391 33895391 A G snp 1701.77 0/1 99 116 50 66 0.57 exonic rs3183982 PDCD6IP AU synonymous SNV NM_001162429 exon14 c.A1926G p.S642S 0.330272 0.4107 0.254397 0.4002 0.5284 Uncertain 3_33905471_A->G 3 33905471 33905471 A G snp 1621.77 0/1 99 113 48 65 0.58 intronic rs11922311 PDCD6IP AU NM_001162429 exon16 c.65277-26A>G 0.214457 0.3849 0.103106 0.1724 0.4092 Uncertain 3_33905566_C->T 3 33905566 33905566 C T snp 2555.77 0/1 99 237 128 109 0.46 exonic rs1127732 PDCD6IP AU nonsynonymous SNV NM_001162429 exon16 c.C2204T p.S735L 0.247804 0.3889 0.154237 0.2204 0.4106 0.33 T 0.950 P -0.905 T 0.536 P 0.122 P Pathogenic 3_33905781_A->G 3 33905781 33905781 A G snp 107.77 0/1 99 11 7 4 0.36 intronic rs9848414 PDCD6IP AU NM_001162429 exon16 c.65401+160A>G 0.333666 0.4117 Uncertain 3_33907835_-->CTCC 3 33907835 33907835 - CTCC indel 537.73 0/1 99 30 20 10 0.33 intronic rs5847794 PDCD6IP AU NM_001162429 exon18 c.67622-7insCTCC 0.261460 0.2939 0.4073 Uncertain 3_33907945_A->G 3 33907945 33907945 A G snp 815.77 0/1 99 79 46 33 0.42 exonic rs3183987 PDCD6IP AU synonymous SNV NM_001162429 exon18 c.A2550G p.P850P 0.330471 0.4117 0.276411 0.3091 0.4261 Uncertain 3_35729113_A->- 3 35729113 35729113 A - indel 284.73 0/1 99 26 13 13 0.5 intronic ARPP21 AU NM_001267617 exon6 c.5987-117delA Uncertain 3_35731725_C->T 3 35731725 35731725 C T snp 145.77 0/1 99 12 6 6 0.5 intronic rs1513476 ARPP21 AU NM_001267617 exon8 c.8389+93C>T 0.835064 0.8641 Uncertain 3_35756778_A->T 3 35756778 35756778 A T snp 317.77 0/1 99 32 19 13 0.41 intronic rs2305233 ARPP21 AU NM_001267617 exon11 c.33687-152A>T 0.539736 0.7768 Uncertain 3_36524405_C->T 3 36524405 36524405 C T snp 1629.77 0/1 99 129 63 66 0.51 intronic rs2290530 STAC AU NM_003149 exon3 c.102348-78C>T 0.145367 0.3145 Uncertain 3_36534540_G->A 3 36534540 36534540 G A snp 2311.77 0/1 99 170 80 90 0.53 intronic rs2290528 STAC AU NM_001292049 exon4 c.112507-102G>A 0.177316 0.3085 Uncertain 3_36534623_TCTT->- 3 36534623 36534626 TCTT - indel 6041.73 0/1 99 248 135 113 0.46 intronic rs3217654 STAC AU NM_001292049 exon4 c.112507-19_112507-16delTCTT 0.14397 0.3075 0.096310 0.1149 0.3000 Uncertain 3_36545740_C->A 3 36545740 36545740 C A snp 153.77 0/1 99 10 5 5 0.5 intronic rs12637657 STAC AU NM_001292049 exon5 c.123749-144C>A 0.144369 0.3056 Uncertain 3_36587541_C->G 3 36587541 36587541 C G snp 1133.77 1/1 84 35 0 35 1.0 intronic rs9878872 STAC AU NM_001292049 exon9 c.165547-141C>G 0.428914 0.5179 Uncertain 3_36896653_G->C 3 36896653 36896653 G C snp 2991.77 1/1 99 95 0 95 1.0 intronic rs9818599 TRANK1 AU NM_014831 exon12 c.26898-10G>C 0.996406 1 0.998032 0.9993 1 Uncertain 3_36931326_C->T 3 36931326 36931326 C T snp 1691.77 0/1 99 155 85 70 0.45 exonic rs537797548 TRANK1 AU nonsynonymous SNV NM_014831 exon7 c.G769A p.V257I 0.000199681 5.488e-05 0 0.67 T 1 D -0.976 T Pathogenic 3_37034946_G->A 3 37034946 37034946 G A snp 497.77 0/1 99 31 14 17 0.55 UTR5 rs1800734 MLH1 AU,AD,AR 0.320487 0.5476 CLINSIG=non-pathogenic;CLNDBN=Lynch_syndrome;CLNREVSTAT=exp;CLNACC=RCV000075069.2;CLNDSDB=GeneReviews:MedGen:SNOMED_CT;CLNDSDBID=NBK1211:C0009405:315058005 ID=CR045225;DIS=Lung cancer, risk, association with;TAG=DFP;PUB=15382050 DFP Uncertain 3_37035011_A->G 3 37035011 37035011 A G snp 1678.77 0/1 99 118 52 66 0.56 UTR5 rs56198082 MLH1 AU,AD,AR 0.000798722 0.002 0.000308 0.0019 0.0050 CLINSIG=unknown|unknown,unknown;CLNDBN=Lynch_syndrome|Hereditary_cancer-predisposing_syndrome,Lynch_syndrome;CLNREVSTAT=exp|criteria_provided\x2c_single_submitter,exp;CLNACC=RCV000075059.2|RCV000115447.2,RCV000075060.2;CLNDSDB=GeneReviews:MedGen:SNOMED_CT|MedGen:SNOMED_CT,GeneReviews:MedGen:SNOMED_CT;CLNDSDBID=NBK1211:C0009405:315058005|C0027672:699346009,NBK1211:C0009405:315058005 ID=CR015013;DIS=Colorectal cancer, non-polyposis;TAG=DM;PUB=11726306 DM Uncertain 3_37096024_T->C 3 37096024 37096024 T C snp 2672.77 0/1 99 221 109 112 0.51 intronic rs749072 LRRFIP2 AU NM_001134369 exon2 c.665+18T>C 0.355631 0.6012 0.247962 0.3202 0.6115 Uncertain 3_37163039_G->A 3 37163039 37163039 G A snp 1890.77 1/1 99 64 0 64 1.0 intronic rs336595 LRRFIP2 AU NM_006309 exon23 c.67686+12G>A 0.998003 1 0.998924 0.9997 1 Uncertain 3_37512646_T->C 3 37512646 37512646 T C snp 1786.77 0/1 99 201 117 84 0.42 intronic rs11713408 ITGA9 AU NM_002207 exon2 c.18760+21T>C 0.552716 0.4732 0.590035 0.6028 0.4591 Uncertain 3_37512647_G->C 3 37512647 37512647 G C snp 1795.77 0/1 99 200 117 83 0.41 intronic rs11709385 ITGA9 AU NM_002207 exon2 c.18760+22G>C 0.552117 0.4722 0.593342 0.6025 0.4576 Uncertain 3_37535865_T->C 3 37535865 37535865 T C snp 918.77 1/1 69 25 0 25 1.0 intronic rs472893 ITGA9 AU NM_002207 exon5 c.42126-126T>C 0.627396 0.8423 Uncertain 3_37535866_G->A 3 37535866 37535866 G A snp 1007.77 1/1 75 28 0 28 1.0 intronic rs539108 ITGA9 AU NM_002207 exon5 c.42126-125G>A 0.508387 0.7917 Uncertain 3_37535984_C->G 3 37535984 37535984 C G snp 4171.77 1/1 99 164 0 164 1.0 intronic rs2507940 ITGA9 AU NM_002207 exon5 c.42126-7C>G 0.532748 0.7917 0.520452 0.5725 0.7962 Uncertain 3_37536225_C->A 3 37536225 37536225 C A snp 605.77 1/1 45 18 0 18 1.0 intronic rs267523 ITGA9 AU NM_002207 exon5 c.42194+166C>A 0.632788 0.8423 Uncertain 3_37558819_G->T 3 37558819 37558819 G T snp 136.03 1/1 12 4 0 4 1.0 intronic rs155522 ITGA9 AU NM_002207 exon10 c.65129-175G>T 0.666733 0.8601 Uncertain 3_37560597_C->T 3 37560597 37560597 C T snp 1139.77 1/1 90 34 0 34 1.0 intronic rs185568 ITGA9 AU NM_002207 exon11 c.66885-153C>T 0.442492 0.5317 Uncertain 3_37574951_G->A 3 37574951 37574951 G A snp 4905.77 1/1 99 182 0 182 1.0 exonic rs267561 ITGA9 AU nonsynonymous SNV NM_002207 exon14 c.G1520A p.G507E 0.559105 0.8046 0.543441 0.5728 0.8079 0.35 T 1.000 P -1.034 T 0.529 P 0.443 P Pathogenic 3_37575039_G->A 3 37575039 37575039 G A snp 1290.77 1/1 96 38 0 38 1.0 intronic rs267560 ITGA9 AU NM_002207 exon14 c.81094+80G>A 0.559105 0.8046 Uncertain 3_37627112_T->C 3 37627112 37627112 T C snp 1486.77 0/1 99 156 87 69 0.44 intronic rs1155741 ITGA9 AU NM_002207 exon15 c.90211+43036T>C 0.59365 0.746 0.648936 0.6117 0.7333 Uncertain 3_37627287_-->C 3 37627287 37627287 - C indel 191.73 0/1 96 17 4 13 0.76 intronic rs3044748 ITGA9 AU NM_002207 exon15 c.90211+43211insC 0.330272 0.254 Uncertain 3_37791729_G->A 3 37791729 37791729 G A snp 96.28 1/1 9 3 0 3 1.0 intronic rs1402756 ITGA9 AU NM_002207 exon23 c.298087-223G>A 0.969848 0.9018 Uncertain 3_37953024_G->C 3 37953024 37953024 G C snp 427.77 0/1 99 28 15 13 0.46 intronic rs13099971 CTDSPL AU NM_005808 exon2 c.84857-35523G>C 0.223243 0.0476 Uncertain 3_37953083_T->A 3 37953083 37953083 T A snp 1046.77 0/1 99 108 60 48 0.44 intronic rs13079669 CTDSPL AU NM_005808 exon2 c.84857-35464T>A 0.223243 0.0476 Uncertain 3_38009700_C->T 3 38009700 38009700 C T snp 1756.77 0/1 99 190 116 74 0.39 intronic rs11719907 CTDSPL AU NM_005808 exon4 c.105683+327C>T 0.129193 0.0486 0.1891 0.0604 Uncertain 3_38009749_C->T 3 38009749 38009749 C T snp 1981.77 0/1 99 226 138 88 0.39 intronic rs1573291 CTDSPL AU NM_005808 exon4 c.105683+376C>T 0.19389 0.0506 0.1982 0.0606 0.0 P -0.941 T Uncertain 3_38010708_T->C 3 38010708 38010708 T C snp 129.03 1/1 12 4 0 4 1.0 intronic rs7372209 CTDSPL AU NM_005808 exon4 c.105683+1335T>C 0.798522 0.7282 Uncertain 3_38010827_A->C 3 38010827 38010827 A C snp 902.77 0/1 99 68 30 38 0.56 intronic rs41276521 CTDSPL AU NM_005808 exon4 c.105683+1454A>C 0.0824681 0.0476 0.092203 Uncertain 3_38017470_C->A 3 38017470 38017470 C A snp 795.77 0/1 99 64 30 34 0.53 intronic rs117421029 CTDSPL AU NM_005808 exon6 c.113695+85C>A 0.00139776 0.0069 Uncertain 3_38022139_A->G 3 38022139 38022139 A G snp 1360.77 0/1 99 116 63 53 0.46 intronic rs11719578 CTDSPL AU NM_005808 exon7 c.118542-93A>G 0.14976 0.0843 Uncertain 3_38023553_A->G 3 38023553 38023553 A G snp 274.77 0/1 99 21 11 10 0.48 UTR3 rs10095 CTDSPL AU 0.176518 0.0843 Uncertain 3_38025751_A->- 3 38025751 38025751 A - indel 1209.73 0/1 99 98 63 35 0.36 UTR3 rs60500371 CTDSPL AU 0.17512 0.0843 0.2021 0.0931 Uncertain 3_38035508_G->A 3 38035508 38035508 G A snp 1824.77 0/1 99 198 116 82 0.41 intronic rs7648182 VILL AU NM_015873 exon2 c.300+45G>A 0.236821 0.0863 0.248808 0.1851 0.0846 Uncertain 3_38035878_G->C 3 38035878 38035878 G C snp 1052.77 0/1 99 117 74 43 0.37 exonic rs201063775 VILL AU nonsynonymous SNV NM_015873 exon3 c.G262C p.G88R 0.000998403 0.005 0.0010 0.0119 0.03 T 0.997 D -1.073 T 0.777 T 0.687 P Pathogenic 3_38038982_T->C 3 38038982 38038982 T C snp 833.77 0/1 99 90 52 38 0.42 exonic rs6809649 VILL AU synonymous SNV NM_015873 exon6 c.T570C p.A190A 0.236022 0.0863 0.249731 0.1867 0.0853 Uncertain 3_38039187_C->T 3 38039187 38039187 C T snp 687.77 0/1 99 102 73 29 0.28 intronic rs6550514 VILL AU NM_015873 exon6 c.4013+11C>T 0.235224 0.0863 0.244426 0.1918 0.0883 Uncertain 3_38043904_T->C 3 38043904 38043904 T C snp 2475.77 0/1 99 169 73 96 0.57 exonic rs9843296 VILL AU synonymous SNV NM_015873 exon13 c.T1497C p.H499H 0.19389 0.0853 0.214055 0.1609 0.0836 Uncertain 3_38044143_C->G 3 38044143 38044143 C G snp 1593.77 0/1 99 130 64 66 0.51 intronic rs9311172 VILL AU NM_015873 exon13 c.8903+77C>G 0.267772 0.0863 Uncertain 3_38044592_C->T 3 38044592 38044592 C T snp 461.77 0/1 99 35 18 17 0.49 intronic rs9875248 VILL AU NM_015873 exon14 c.9495-66C>T 0.26877 0.0863 Uncertain 3_38046023_A->C 3 38046023 38046023 A C snp 140.77 0/1 99 20 12 8 0.4 intronic rs9843506 VILL AU NM_015873 exon15 c.10727+133A>C 0.268171 0.0863 Uncertain 3_38047211_G->C 3 38047211 38047211 G C snp 31.77 0/1 60 8 6 2 0.25 intronic rs9311175 VILL AU NM_015873 exon16 c.12119-71G>C 0.191494 0.0853 Uncertain 3_38047607_A->C 3 38047607 38047607 A C snp 1129.77 0/1 99 103 60 43 0.42 intronic rs9311176 VILL AU NM_015873 exon17 c.12508-64A>C 0.261182 0.0863 0.277486 Uncertain 3_38047680_G->A 3 38047680 38047680 G A snp 2345.77 0/1 99 199 98 101 0.51 exonic rs11707277 VILL AU synonymous SNV NM_015873 exon17 c.G2142A p.P714P 0.109026 0.0843 0.132939 0.1347 0.0823 Uncertain 3_38047954_G->C 3 38047954 38047954 G C snp 1159.77 0/1 99 129 80 49 0.38 exonic rs9816693 VILL AU nonsynonymous SNV NM_015873 exon18 c.G2220C p.L740F 0.232428 0.0863 0.237996 0.1868 0.0847 0.13 T 0.0 P -0.924 T 0.0 T 0.0 T Pathogenic 3_38049969_G->A 3 38049969 38049969 G A snp 1062.77 0/1 99 115 69 46 0.4 exonic rs760631515 PLCD1 AR,AD nonsynonymous SNV NM_001130964 exon12 c.C1945T p.R649W 5.776e-05 0.0002 0 D 1 N -1.028 T 0.986 D 0.339 D Pathogenic 3_38050159_G->A 3 38050159 38050159 G A snp 646.77 0/1 99 39 15 24 0.62 intronic rs113213588 PLCD1 AR,AD NM_006225 exon4 c.864+32G>A 0.0932508 0.0843 0.1307 0.0850 Uncertain 3_38051941_T->C 3 38051941 38051941 T C snp 1041.77 0/1 99 99 52 47 0.47 exonic rs9857730 PLCD1 AR,AD synonymous SNV NM_001130964 exon6 c.A966G p.P322P 0.266773 0.0863 0.297555 0.2212 0.0844 Uncertain 3_38053206_T->C 3 38053206 38053206 T C snp 496.77 0/1 99 41 19 22 0.54 intronic rs9758003 PLCD1 AR,AD NM_006225 exon12 c.3901+42T>C 0.229633 0.0863 0.238582 0.1783 0.0852 Uncertain 3_38134438_A->G 3 38134438 38134438 A G snp 1345.77 0/1 99 87 37 50 0.57 intronic rs11129778 DLEC1 AR,AD NM_007335 exon11 c.53655+67A>G 0.952077 0.9306 0.935611 Uncertain 3_38151731_T->C 3 38151731 38151731 T C snp 3243.77 0/1 99 248 120 128 0.52 exonic rs12630114 DLEC1 AR,AD synonymous SNV NM_007337 exon23 c.T3402C p.Y1134Y 0.457668 0.6131 0.419102 0.3868 0.6162 Uncertain 3_38348743_A->C 3 38348743 38348743 A C snp 1463.77 0/1 99 134 67 67 0.5 splicing rs753331 SLC22A14 AU NM_004803 exon2 c.1227-1A>C 0.0597045 0.2629 0.000615 0.0201 0.2382 1.0 P ID=CS057900;DIS=Altered splicing;TAG=DFP;PUB=16131712 DFP Pathogenic 3_38348949_G->T 3 38348949 38348949 G T snp 256.77 0/1 99 18 9 9 0.5 intronic rs818823 SLC22A14 AU NM_004803 exon2 c.1331+101G>T 0.349441 0.5645 Uncertain 3_38350479_T->C 3 38350479 38350479 T C snp 2018.77 0/1 99 215 128 87 0.4 exonic rs818819 SLC22A14 AU synonymous SNV NM_004803 exon4 c.T810C p.H270H 0.825879 0.7649 0.866216 0.8493 0.7444 Uncertain 3_38350519_G->A 3 38350519 38350519 G A snp 2408.77 0/1 99 250 145 105 0.42 exonic rs818818 SLC22A14 AU nonsynonymous SNV NM_004803 exon4 c.G850A p.V284M 0.825479 0.7639 0.866062 0.8492 0.7432 1 T 0.0 P -0.895 T 0.004 T 0.012 T Pathogenic 3_38350543_A->G 3 38350543 38350543 A G snp 2326.77 0/1 99 250 146 104 0.42 exonic rs818817 SLC22A14 AU nonsynonymous SNV NM_004803 exon4 c.A874G p.S292G 0.836262 0.7639 0.873751 0.8455 0.7436 0.52 T 0.0 P -1.022 T 0.001 T 0.004 T Pathogenic 3_38350630_C->A 3 38350630 38350630 C A snp 1729.77 0/1 99 150 85 65 0.43 intronic rs704929 SLC22A14 AU NM_004803 exon4 c.3096+17C>A 0.825679 0.7639 0.866062 0.8491 0.7427 Uncertain 3_38354839_G->T 3 38354839 38354839 G T snp 188.77 0/1 99 22 12 10 0.45 intronic rs72867262 SLC22A14 AU NM_004803 exon6 c.7361-39G>T 0.120407 0.1171 0.151699 0.1360 0.1301 Uncertain 3_38355184_T->C 3 38355184 38355184 T C snp 1147.77 0/1 99 80 36 44 0.55 intronic rs12186097 SLC22A14 AU NM_004803 exon7 c.7700-33T>C 0.253994 0.253 0.2492 0.3235 Uncertain 3_38355509_C->T 3 38355509 38355509 C T snp 71.77 0/1 99 10 7 3 0.3 intronic rs696253 SLC22A14 AU NM_004803 exon7 c.7915+77C>T 0.577276 0.8065 Uncertain 3_38357961_C->G 3 38357961 38357961 C G snp 1688.77 0/1 99 172 100 72 0.42 exonic rs240033 SLC22A14 AU nonsynonymous SNV NM_004803 exon9 c.C1679G p.P560R 0.25599 0.2599 0.278026 0.2725 0.2666 0.03 T 0.0 P -1.143 T 1.0 D 0.999 D Pathogenic 3_38390020_C->A 3 38390020 38390020 C A snp 6589.77 1/1 99 237 0 237 1.0 intronic rs2615631 XYLB AU NM_005108 exon2 c.1681-20C>A 0.945687 1 0.948639 0.9854 1 Uncertain 3_38401677_C->T 3 38401677 38401677 C T snp 1238.77 1/1 90 45 0 45 1.0 intronic rs818851 XYLB AU NM_005108 exon3 c.13470-152C>T 0.866813 1 Uncertain 3_38401839_T->C 3 38401839 38401839 T C snp 2262.77 1/1 99 84 0 84 1.0 exonic rs818850 XYLB AU synonymous SNV NM_005108 exon3 c.T150C p.G50G 0.963259 1 0.964401 0.9895 1 Uncertain 3_38401918_A->G 3 38401918 38401918 A G snp 1431.77 1/1 99 50 0 50 1.0 intronic rs818849 XYLB AU NM_005108 exon3 c.13540+19A>G 0.901558 1 0.882900 0.9376 0.9997 Uncertain 3_38402007_T->A 3 38402007 38402007 T A snp 261.8 1/1 21 7 0 7 1.0 intronic rs818848 XYLB AU NM_005108 exon3 c.13540+108T>A 0.901558 1 Uncertain 3_38402027_G->A 3 38402027 38402027 G A snp 180.9 1/1 15 5 0 5 1.0 intronic rs861767 XYLB AU NM_005108 exon3 c.13540+128G>A 0.963259 1 Uncertain 3_38406648_T->C 3 38406648 38406648 T C snp 2294.77 1/1 99 83 0 83 1.0 intronic rs704942 XYLB AU NM_005108 exon5 c.18330-41T>C 0.931709 0.995 0.915654 0.9463 0.9946 Uncertain 3_38406773_G->T 3 38406773 38406773 G T snp 2141.77 1/1 99 76 1 75 0.99 exonic rs704943 XYLB AU synonymous SNV NM_005108 exon5 c.G375T p.L125L 0.896565 1 0.878287 0.9360 1 Uncertain 3_38406793_T->G 3 38406793 38406793 T G snp 1061.77 0/1 99 64 23 41 0.64 intronic rs2234608 XYLB AU NM_005108 exon5 c.18417+17T>G 0.770767 0.75 0.808627 0.8929 0.7759 Uncertain 3_38408248_G->A 3 38408248 38408248 G A snp 3115.77 1/1 99 116 0 116 1.0 intronic rs704946 XYLB AU NM_005108 exon7 c.19939-50G>A 0.897963 1 0.882131 0.9366 0.9999 Uncertain 3_38408361_G->A 3 38408361 38408361 G A snp 5171.77 1/1 99 198 0 198 1.0 exonic rs843890 XYLB AU synonymous SNV NM_005108 exon7 c.G570A p.T190T 0.897764 1 0.881978 0.9367 1 Uncertain 3_38408453_G->A 3 38408453 38408453 G A snp 653.77 0/1 99 74 46 28 0.38 intronic rs2234616 XYLB AU NM_005108 exon7 c.20005+89G>A 0.0808706 0.25 Uncertain 3_38408459_A->G 3 38408459 38408459 A G snp 1943.77 1/1 99 63 0 63 1.0 intronic rs2234617 XYLB AU NM_005108 exon7 c.20005+95A>G 0.896166 1 Uncertain 3_38408536_G->A 3 38408536 38408536 G A snp 93.28 1/1 9 3 0 3 1.0 intronic rs1093684 XYLB AU NM_005108 exon7 c.20005+172G>A 0.897963 1 Uncertain 3_38409578_C->T 3 38409578 38409578 C T snp 1449.77 0/1 99 131 71 60 0.46 intronic rs2234618 XYLB AU NM_005108 exon8 c.21316-97C>T 0.0806709 0.249 Uncertain 3_38409600_T->G 3 38409600 38409600 T G snp 4296.77 1/1 99 168 1 167 0.99 intronic rs704947 XYLB AU NM_005108 exon8 c.21316-75T>G 0.897963 1 Uncertain 3_38411377_G->A 3 38411377 38411377 G A snp 309.78 1/1 24 9 0 9 1.0 intronic rs818832 XYLB AU NM_005108 exon9 c.23187-169G>A 0.899361 1 Uncertain 3_38411732_CA->- 3 38411732 38411733 CA - indel 161.73 0/1 99 23 7 16 0.7 intronic XYLB AU NM_005108 exon9 c.23306+67_23306+68delCA Uncertain 3_38420708_A->C 3 38420708 38420708 A C snp 1606.77 0/1 99 186 114 72 0.39 intronic rs2070987 XYLB AU NM_005108 exon15 c.32377-28A>C 0.0561102 0.2054 0.001000 0.0249 0.2020 Uncertain 3_38442490_G->A 3 38442490 38442490 G A snp 2333.77 0/1 99 209 106 103 0.49 intronic rs2070488 XYLB AU NM_005108 exon18 c.54117+14G>A 0.36222 0.2589 0.445640 0.4831 0.2729 Uncertain 3_38442504_G->A 3 38442504 38442504 G A snp 2568.77 0/1 99 220 110 110 0.5 intronic rs2234628 XYLB AU NM_005108 exon18 c.54117+28G>A 0.0928514 0.1806 0.044210 0.0708 0.1927 Uncertain 3_38519424_A->G 3 38519424 38519424 A G snp 2482.77 1/1 99 96 0 96 1.0 exonic rs2070489 ACVR2B AU synonymous SNV NM_001106 exon3 c.A333G p.E111E 0.480431 0.4425 0.522759 0.5683 0.4680 Uncertain 3_38521156_T->C 3 38521156 38521156 T C snp 3165.77 0/1 99 250 122 128 0.51 intronic rs13097628 ACVR2B AU NM_001106 exon7 c.25355-12T>C 0.35643 0.2609 0.441489 0.4853 0.2750 Uncertain 3_38521425_C->T 3 38521425 38521425 C T snp 790.77 1/1 60 20 0 20 1.0 intronic rs4407366 ACVR2B AU NM_001106 exon7 c.25504+108C>T 0.616813 0.6399 Uncertain 3_38524742_C->T 3 38524742 38524742 C T snp 1889.77 0/1 99 162 76 86 0.53 exonic rs1046048 ACVR2B AU synonymous SNV NM_001106 exon11 c.C1458T p.N486N 0.353235 0.2599 0.438567 0.4851 0.2751 Uncertain 3_38537793_G->A 3 38537793 38537793 G A snp 472.77 0/1 99 37 18 19 0.51 UTR5 rs117009406 EXOG AU 0.00479233 0.0238 Uncertain 3_38538466_G->T 3 38538466 38538466 G T snp 178.77 0/1 99 21 12 9 0.43 intronic rs1984312 EXOG AU NM_001145464 exon1 c.163+445G>T 0.621006 0.7371 Uncertain 3_38539096_TT->- 3 38539096 38539097 TT - indel 238.73 0/1 99 29 16 13 0.45 intronic rs376690919 EXOG AU NM_005107 exon2 c.1261-23_1261-22delTT 0.595248 0.7351 0.4020 0.4253 Uncertain 3_38540541_A->G 3 38540541 38540541 A G snp 264.77 0/1 99 31 20 11 0.35 intronic rs2300668 EXOG AU NM_005107 exon2 c.1411+1272A>G 0.623802 0.7381 Uncertain 3_38541161_A->C 3 38541161 38541161 A C snp 111.77 0/1 30 7 2 5 0.71 intronic rs12638090 EXOG AU NM_001145464 exon2 c.4987-1684A>C 0.146765 0.1825 0.0663 0.1782 Uncertain 3_38541452_A->G 3 38541452 38541452 A G snp 135.03 1/1 12 4 0 4 1.0 intronic rs9877282 EXOG AU NM_001145464 exon2 c.4987-1393A>G 0.661342 0.7381 Uncertain 3_38545349_C->T 3 38545349 38545349 C T snp 145.77 0/1 99 16 9 7 0.44 intronic rs6599206 EXOG AU NM_001145464 exon3 c.7324+167C>T 0.652756 0.7381 Uncertain 3_38592406_A->G 3 38592406 38592406 A G snp 2773.77 0/1 99 213 102 111 0.52 exonic rs1805126 SCN5A AR,AD,AU synonymous SNV NM_198056 exon28 c.T5457C p.D1819D 0.492412 0.5784 0.431440 0.3878 0.5534 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=criteria_provided\x2c_multiple_submitters\x2c_no_conflicts|criteria_provided\x2c_single_submitter;CLNACC=RCV000041627.2|RCV000127989.1;CLNDSDB=MedGen|MedGen;CLNDSDBID=CN169374|CN221809 ID=CM057565;DIS=Longer QT interval, association with;TAG=DP;PUB=16132053 DP Uncertain 3_38598669_A->G 3 38598669 38598669 A G snp 1179.77 0/1 99 85 37 48 0.56 intronic rs41312393 SCN5A AR,AD,AU NM_001160161 exon5 c.6910-52A>G 0.127995 0.2718 0.084538 Uncertain 3_38598956_A->G 3 38598956 38598956 A G snp 54.74 1/1 6 2 0 2 1.0 intronic rs6804918 SCN5A AR,AD,AU NM_001160161 exon5 c.6964+181A>G 0.537939 0.5992 Uncertain 3_38601556_T->C 3 38601556 38601556 T C snp 780.77 0/1 99 53 24 29 0.55 intronic rs6799868 SCN5A AR,AD,AU NM_001099405 exon5 c.9826-81T>C 0.410942 0.369 Uncertain 3_38622467_T->C 3 38622467 38622467 T C snp 5786.77 1/1 99 209 0 209 1.0 exonic rs7430407 SCN5A AR,AD,AU synonymous SNV NM_198056 exon17 c.A3183G p.E1061E 0.923123 0.997 0.884970 0.9128 0.9990 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter|criteria_provided\x2c_single_submitter;CLNACC=RCV000041613.2|RCV000127977.1;CLNDSDB=MedGen|MedGen;CLNDSDBID=CN169374|CN221809 Uncertain 3_38627629_A->G 3 38627629 38627629 A G snp 1599.77 1/1 99 46 0 46 1.0 intronic rs7645173 SCN5A AR,AD,AU NM_001099405 exon12 c.35721+97A>G 0.940495 0.998 Uncertain 3_38648062_C->T 3 38648062 38648062 C T snp 901.77 1/1 66 28 0 28 1.0 intronic rs6599222 SCN5A AR,AD,AU NM_001099405 exon19 c.56348-97C>T 0.845048 0.9831 Uncertain 3_38674712_T->C 3 38674712 38674712 T C snp 2175.77 1/1 99 82 0 82 1.0 exonic rs6599230 SCN5A AR,AD,AU synonymous SNV NM_198056 exon2 c.A87G p.A29A 0.781749 0.6677 0.835957 0.7737 0.6902 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=criteria_provided\x2c_multiple_submitters\x2c_no_conflicts|criteria_provided\x2c_single_submitter;CLNACC=RCV000041640.5|RCV000127955.1;CLNDSDB=MedGen|MedGen;CLNDSDBID=CN169374|CN221809 Uncertain 3_38739574_T->C 3 38739574 38739574 T C snp 6516.77 1/1 99 210 1 209 1.0 exonic rs6599241 SCN10A AD nonsynonymous SNV NM_006514 exon27 c.A5137G p.M1713V 1 1 1 1 1 T 0.014 P -0.898 T 0.0 T 0.0 T Pathogenic 3_38739845_A->G 3 38739845 38739845 A G snp 5146.77 1/1 99 182 1 181 0.99 exonic rs6599242 SCN10A AD synonymous SNV NM_006514 exon27 c.T4866C p.S1622S 0.92472 0.9514 0.930494 0.9199 0.9703 Uncertain 3_38749026_T->A 3 38749026 38749026 T A snp 1693.77 1/1 99 54 0 54 1.0 intronic rs6599248 SCN10A AD NM_001293307 exon3 c.10035+152T>A 0.756589 0.6399 Uncertain 3_38753977_C->T 3 38753977 38753977 C T snp 797.77 1/1 60 22 0 22 1.0 intronic rs6781740 SCN10A AD NM_001293307 exon6 c.15097+41C>T 0.251997 0.375 0.256420 0.2570 0.3950 Uncertain 3_38763863_G->C 3 38763863 38763863 G C snp 7080.77 1/1 99 246 0 246 1.0 exonic rs6771157 SCN10A AD synonymous SNV NM_006514 exon19 c.C3393G p.T1131T 0.219649 0.376 0.220206 0.2430 0.3905 Uncertain 3_38764071_C->T 3 38764071 38764071 C T snp 512.77 1/1 39 13 0 13 1.0 intronic rs61487238 SCN10A AD NM_001293307 exon9 c.25064+168C>T 0.219649 0.376 Uncertain 3_38764782_G->T 3 38764782 38764782 G T snp 1400.77 1/1 99 41 0 41 1.0 intronic rs4076737 SCN10A AD NM_001293307 exon10 c.26081-138G>T 0.729034 0.7232 Uncertain 3_38764998_A->G 3 38764998 38764998 A G snp 6343.77 1/1 99 236 0 236 1.0 exonic rs12632942 SCN10A AD nonsynonymous SNV NM_006514 exon18 c.T3275C p.L1092P 0.219649 0.376 0.219975 0.2790 0.4314 0.46 T 0.000 P -0.997 T 0.0 T 0.0 T ID=CM108212;DIS=QRS interval, association with;TAG=DFP;PUB=21076409 DFP Pathogenic 3_38766675_A->G 3 38766675 38766675 A G snp 2875.77 1/1 99 102 0 102 1.0 exonic rs6795970 SCN10A AD nonsynonymous SNV NM_006514 exon17 c.T3218C p.V1073A 0.757987 0.8194 0.702522 0.6586 0.8436 0.79 T 0.0 P -0.912 T 0.0 T 0.0 T ID=CM108213;DIS=QRS interval, association with;TAG=DFP;PUB=21076409 DFP Pathogenic 3_38768247_G->A 3 38768247 38768247 G A snp 6428.77 1/1 99 233 0 233 1.0 exonic rs59468016 SCN10A AD synonymous SNV NM_006514 exon16 c.C2937T p.G979G 0.190495 0.373 0.190066 0.2350 0.3922 Uncertain 3_38768300_T->C 3 38768300 38768300 T C snp 6318.77 1/1 99 209 0 209 1.0 exonic rs57326399 SCN10A AD nonsynonymous SNV NM_006514 exon16 c.A2884G p.I962V 0.210663 0.373 0.210288 0.2409 0.3919 0.09 T 0.0 P -1.095 T 0.437 T 0.17 T Pathogenic 3_38784029_T->C 3 38784029 38784029 T C snp 2222.77 1/1 99 77 0 77 1.0 intronic rs6599250 SCN10A AD NM_001293307 exon15 c.45181+9T>C 0.757788 0.8373 0.697524 0.6537 0.8559 Uncertain 3_38793989_G->A 3 38793989 38793989 G A snp 3357.77 1/1 99 125 0 125 1.0 exonic rs7617919 SCN10A AD synonymous SNV NM_006514 exon11 c.C1476T p.L492L 0.207668 0.373 0.203014 0.2430 0.4016 Uncertain 3_38798171_C->T 3 38798171 38798171 C T snp 949.77 1/1 69 29 0 29 1.0 exonic rs62244070 SCN10A AD synonymous SNV NM_006514 exon9 c.G1284A p.E428E 0.207468 0.372 0.202368 0.2344 0.3974 Uncertain 3_38802251_A->G 3 38802251 38802251 A G snp 1511.77 1/1 99 51 1 50 0.98 intronic rs7641844 SCN10A AD NM_001293307 exon20 c.63399+13A>G 0.388778 0.6815 0.305705 0.3299 0.6870 Uncertain 3_38813009_T->C 3 38813009 38813009 T C snp 600.77 1/1 45 16 0 16 1.0 intronic rs62244081 SCN10A AD NM_001293307 exon23 c.74059+111T>C 0.230631 0.372 Uncertain 3_38913569_G->T 3 38913569 38913569 G T snp 233.77 0/1 99 15 6 9 0.6 intronic rs4077939 SCN11A AD NM_014139 exon7 c.25499-114G>T 0.238019 0.2262 Uncertain 3_38926912_C->G 3 38926912 38926912 C G snp 1014.77 0/1 99 107 65 42 0.39 intronic rs6599266 SCN11A AD NM_014139 exon10 c.38709+19C>G 0.599441 0.5298 0.637321 0.5575 0.5506 Uncertain 3_38938299_-->T 3 38938299 38938299 - T indel 180.77 1/1 20 13 1 12 0.92 intronic rs397738431 SCN11A AD NM_014139 exon13 c.50151-36insT 0.535743 0.5546 0.5204 0.5289 Uncertain 3_38938314_G->T 3 38938314 38938314 G T snp 35.77 0/1 64 26 19 7 0.27 intronic rs748637752 SCN11A AD NM_014139 exon13 c.50151-21G>T 0.0617 0.1245 Uncertain 3_38938845_T->C 3 38938845 38938845 T C snp 449.77 1/1 36 13 0 13 1.0 intronic rs4484137 SCN11A AD NM_014139 exon13 c.50532+129T>C 0.982628 1 Uncertain 3_38945560_A->G 3 38945560 38945560 A G snp 3012.77 1/1 99 108 1 107 0.99 exonic rs4073113 SCN11A AD synonymous SNV NM_014139 exon12 c.T1638C p.C546C 0.61242 0.6369 0.607412 0.6515 0.6340 Uncertain 3_38946872_A->T 3 38946872 38946872 A T snp 1919.77 1/1 99 69 0 69 1.0 intronic rs4514993 SCN11A AD NM_014139 exon16 c.58628+60A>T 0.874002 0.874 Uncertain 3_38949363_A->C 3 38949363 38949363 A C snp 2478.77 1/1 99 90 2 88 0.98 intronic rs6599267 SCN11A AD NM_014139 exon17 c.61255-76A>C 0.892772 0.875 Uncertain 3_38951753_T->C 3 38951753 38951753 T C snp 868.77 1/1 66 23 0 23 1.0 intronic rs7429404 SCN11A AD NM_014139 exon19 c.63514+55T>C 0.892772 0.875 Uncertain 3_38961537_T->C 3 38961537 38961537 T C snp 933.77 1/1 69 29 0 29 1.0 intronic rs6779297 SCN11A AD NM_014139 exon20 c.73308+45T>C 0.892772 0.875 0.886154 0.8878 0.8856 Uncertain 3_38967103_C->T 3 38967103 38967103 C T snp 715.77 0/1 99 48 25 23 0.48 intronic rs4676474 SCN11A AD NM_014139 exon22 c.78816+103C>T 0.450879 0.4722 Uncertain 3_39093326_G->A 3 39093326 39093326 G A snp 1145.77 0/1 99 95 47 48 0.51 upstream rs6599003 WDR48 AU 0.447284 0.3403 Uncertain 3_39107993_T->G 3 39107993 39107993 T G snp 653.77 0/1 99 44 19 25 0.57 intronic rs10510698 WDR48 AU NM_001303402 exon3 c.3379-45T>G 0.447085 0.3403 0.468457 0.3610 0.3729 Uncertain 3_39110246_C->T 3 39110246 39110246 C T snp 920.77 0/1 99 91 46 45 0.49 intronic rs12635796 WDR48 AU NM_001303402 exon5 c.5602-15C>T 0.107228 0.127 0.108950 0.1068 0.1206 Uncertain 3_39110376_-->A 3 39110376 39110376 - A indel 111.73 0/1 99 16 5 11 0.69 intronic rs34070325 WDR48 AU NM_001303402 exon5 c.5691+26insA 0.151757 0.1339 0.142777 0.1273 0.1244 Uncertain 3_39111140_C->A 3 39111140 39111140 C A snp 1974.77 0/1 99 169 85 84 0.5 exonic rs2293312 WDR48 AU synonymous SNV NM_020839 exon7 c.C577A p.R193R 0.447085 0.3403 0.469245 0.3509 0.3606 Uncertain 3_39119615_T->C 3 39119615 39119615 T C snp 926.77 0/1 99 72 31 41 0.57 intronic rs13077476 WDR48 AU NM_001303402 exon9 c.14968-12T>C 0.145367 0.127 0.144747 0.1198 0.1218 Uncertain 3_39125543_C->T 3 39125543 39125543 C T snp 207.77 0/1 99 22 14 8 0.36 intronic rs6777201 WDR48 AU NM_001303402 exon11 c.20986-102C>T 0.145367 0.127 Uncertain 3_39125610_TTAATA->- 3 39125610 39125615 TTAATA - indel 2060.73 0/1 99 57 31 26 0.46 intronic rs59046184 WDR48 AU NM_001303402 exon11 c.20986-35_20986-30delTTAATA 0.145367 0.127 0.142480 0.1233 0.1243 Uncertain 3_39129742_A->C 3 39129742 39129742 A C snp 1911.77 0/1 99 134 59 75 0.56 intronic rs3736573 WDR48 AU NM_001303402 exon14 c.25065+18A>C 0.476038 0.4702 0.458788 0.3433 0.5001 Uncertain 3_39141096_A->G 3 39141096 39141096 A G snp 43.77 0/1 72 4 2 2 0.5 intronic rs1122818 GORASP1 AU NM_031899 exon3 c.1268+102A>G 0.409944 0.2986 Uncertain 3_39142704_A->G 3 39142704 39142704 A G snp 402.77 0/1 99 27 14 13 0.48 intronic rs2293307 GORASP1 AU NM_031899 exon6 c.2867+111A>G 0.217452 0.127 Uncertain 3_39144910_A->G 3 39144910 39144910 A G snp 1156.77 0/1 99 111 65 46 0.41 intronic rs2293308 GORASP1 AU NM_031899 exon8 c.5237-53A>G 0.217452 0.127 0.217915 Uncertain 3_39145186_G->A 3 39145186 39145186 G A snp 588.77 0/1 99 35 14 21 0.6 intronic rs7629643 GORASP1 AU NM_031899 exon8 c.5318+142G>A 0.409944 0.2986 Uncertain 3_39149092_A->G 3 39149092 39149092 A G snp 2706.77 1/1 99 96 0 96 1.0 UTR5 rs6786764 GORASP1 AU 0.94988 0.996 0.936310 Uncertain 3_39149218_A->T 3 39149218 39149218 A T snp 1518.77 0/1 99 153 84 69 0.45 UTR5 rs28362645 GORASP1 AU 0.095647 0.128 Uncertain 3_39149503_A->G 3 39149503 39149503 A G snp 360.77 0/1 99 52 34 18 0.35 UTR5 rs28362642 GORASP1 AU 0.101438 0.13 Uncertain 3_39152248_C->G 3 39152248 39152248 C G snp 65.77 0/1 94 11 6 5 0.45 intronic rs7613766 TTC21A AU NM_145755 exon4 c.3013-93C>G 0.455871 0.2738 Uncertain 3_39152345_G->A 3 39152345 39152345 G A snp 623.77 0/1 99 58 30 28 0.48 exonic rs1112438 TTC21A AU nonsynonymous SNV NM_001105513 exon4 c.G272A p.R91Q 0.347644 0.252 0.351199 0.2916 0.2374 0.35 T 0.0 P -0.947 T 0.178 T 0.018 T Pathogenic 3_39152575_C->G 3 39152575 39152575 C G snp 422.77 0/1 99 43 21 22 0.51 intronic rs7614000 TTC21A AU NM_145755 exon4 c.3180+67C>G 0.455871 0.2738 Uncertain 3_39161456_G->A 3 39161456 39161456 G A snp 2090.77 0/1 99 190 96 94 0.49 exonic rs1274972 TTC21A AU nonsynonymous SNV NM_001105513 exon7 c.G722A p.R241K 0.455671 0.2738 0.466243 0.3575 0.2519 0.31 T 0.0 P -1.049 T 0.004 T 0.011 T Pathogenic 3_39161464_G->A 3 39161464 39161464 G A snp 2036.77 0/1 99 186 95 91 0.49 exonic rs1274971 TTC21A AU nonsynonymous SNV NM_001105513 exon7 c.G730A p.E244K 0.455671 0.2738 0.467864 0.3575 0.2519 1 T 0.001 P -0.960 T 0.18 T 0.016 T Pathogenic 3_39166484_C->T 3 39166484 39166484 C T snp 639.77 0/1 99 59 31 28 0.47 intronic rs784508 TTC21A AU NM_145755 exon10 c.17225-69C>T 0.544329 0.7262 Uncertain 3_39166509_A->G 3 39166509 39166509 A G snp 1724.77 1/1 99 64 0 64 1.0 intronic rs784507 TTC21A AU NM_145755 exon10 c.17225-44A>G 0.825879 0.8948 0.818529 0.8625 0.8966 Uncertain 3_39166743_T->C 3 39166743 39166743 T C snp 141.03 1/1 12 4 0 4 1.0 intronic rs2669852 TTC21A AU NM_145755 exon11 c.17494-79T>C 0.993011 1 Uncertain 3_39167905_G->A 3 39167905 39167905 G A snp 2162.77 1/1 99 77 0 77 1.0 intronic rs784506 TTC21A AU NM_145755 exon12 c.18553+24G>A 0.91254 0.8948 0.896045 0.8850 0.8965 Uncertain 3_39169693_A->G 3 39169693 39169693 A G snp 241.77 0/1 99 17 6 11 0.65 intronic rs1298712 TTC21A AU NM_001105513 exon12 c.20493-128A>G 0.560503 0.7262 Uncertain 3_39169712_T->C 3 39169712 39169712 T C snp 407.77 0/1 99 27 10 17 0.63 intronic rs1274969 TTC21A AU NM_001105513 exon12 c.20493-109T>C 0.560503 0.7262 Uncertain 3_39170090_C->T 3 39170090 39170090 C T snp 195.77 0/1 94 9 3 6 0.67 intronic rs1274968 TTC21A AU NM_145755 exon13 c.20651+111C>T 0.544728 0.7262 Uncertain 3_39171676_C->T 3 39171676 39171676 C T snp 2047.77 0/1 99 180 90 90 0.5 intronic rs35052325 TTC21A AU NM_145755 exon16 c.22314+34C>T 0.1252 0.128 0.124917 0.1232 0.1327 Uncertain 3_39172642_G->A 3 39172642 39172642 G A snp 1680.77 0/1 99 113 44 69 0.61 intronic rs12637881 TTC21A AU NM_145755 exon19 c.23258+56G>A 0.122604 0.128 Uncertain 3_39174462_T->C 3 39174462 39174462 T C snp 56.74 1/1 6 2 0 2 1.0 intronic rs784491 TTC21A AU NM_145755 exon20 c.25214-80T>C 0.682508 0.7669 Uncertain 3_39175576_G->T 3 39175576 39175576 G T snp 429.77 0/1 99 40 22 18 0.45 intronic rs784492 TTC21A AU NM_145755 exon21 c.26380-132G>T 0.666334 0.7659 Uncertain 3_39178899_C->T 3 39178899 39178899 C T snp 2072.77 0/1 99 147 70 77 0.52 intronic rs784495 TTC21A AU NM_145755 exon25 c.29550+21C>T 0.480631 0.5724 0.484589 0.6235 0.6124 Uncertain 3_39179909_G->A 3 39179909 39179909 G A snp 1207.77 0/1 99 97 50 47 0.48 intronic rs784497 TTC21A AU NM_145755 exon27 c.30550+31G>A 0.533546 0.7054 0.528567 0.6321 0.7353 Uncertain 3_39180099_T->C 3 39180099 39180099 T C snp 2364.77 0/1 99 170 77 93 0.55 exonic rs784498 TTC21A AU synonymous SNV NM_001105513 exon27 c.T3726C p.I1242I 0.706869 0.7669 0.704214 0.7502 0.7714 Uncertain 3_39180162_A->C 3 39180162 39180162 A C snp 2537.77 0/1 99 201 94 107 0.53 intronic rs811969 TTC21A AU NM_145755 exon29 c.30873-39A>C 0.553714 0.7321 0.549280 0.6564 0.7582 Uncertain 3_39180263_G->A 3 39180263 39180263 G A snp 1304.77 0/1 99 105 52 53 0.5 exonic rs704959 TTC21A AU nonsynonymous SNV NM_001105513 exon28 c.G3803A p.R1268K 0.546126 0.7252 0.535122 0.6450 0.7464 0.97 T 0.001 P -0.924 T 0.0 T 0.002 T Pathogenic 3_39184959_C->T 3 39184959 39184959 C T snp 2118.77 0/1 99 246 159 87 0.35 exonic rs1274958 CSRNP1 AU nonsynonymous SNV NM_033027 exon5 c.G1357A p.V453I 0.784545 0.7669 0.770875 0.7698 0.7674 1 T 0.0 P -0.985 T 0.0 T 0.001 T Pathogenic 3_39185077_G->A 3 39185077 39185077 G A snp 2553.77 0/1 99 250 138 112 0.45 exonic rs1274957 CSRNP1 AU synonymous SNV NM_033027 exon5 c.C1239T p.S413S 0.491214 0.5724 0.497001 0.6099 0.6000 Uncertain 3_39185248_A->G 3 39185248 39185248 A G snp 4800.77 1/1 99 165 0 165 1.0 exonic rs784519 CSRNP1 AU synonymous SNV NM_033027 exon5 c.T1068C p.S356S 0.908946 0.8948 0.893511 0.8847 0.8968 Uncertain 3_39185968_A->G 3 39185968 39185968 A G snp 357.77 0/1 88 16 4 12 0.75 intronic rs810743 CSRNP1 AU NM_033027 exon2 c.1397+26A>G 0.761382 0.7669 0.746996 0.7619 0.7710 Uncertain 3_39186728_C->T 3 39186728 39186728 C T snp 1189.77 0/1 99 104 53 51 0.49 exonic rs784517 CSRNP1 AU synonymous SNV NM_033027 exon3 c.G225A p.R75R 0.461462 0.5615 0.440643 0.5603 0.5872 Uncertain 3_39187858_G->A 3 39187858 39187858 G A snp 108.77 0/1 99 9 5 4 0.44 intronic rs13084317 CSRNP1 AU NM_033027 exon4 c.3423-110G>A 0.304712 0.121 Uncertain 3_39188182_C->T 3 39188182 39188182 C T snp 438.77 0/1 99 42 23 19 0.45 UTR5 rs13084580 CSRNP1 AU 0.117013 0.1181 0.111034 0.1293 0.1704 0.03 T 0.000 P -1.026 T Uncertain 3_39229900_T->C 3 39229900 39229900 T C snp 4873.77 1/1 99 175 0 175 1.0 exonic rs6805248 XIRP1 AU nonsynonymous SNV NM_194293 exon2 c.A1037G p.Q346R 0.993411 1 0.994618 0.9983 1 0.86 T 0.976 P -0.988 T 0.0 T 0.0 T Pathogenic 3_39323163_A->C 3 39323163 39323163 A C snp 2626.77 1/1 99 97 0 97 1.0 intergenic rs11715522 CX3CR1 AU 0.422923 0.6895 0.328641 0.4235 0.6896 1 T 0.000 P -0.957 T Uncertain 3_39433147_G->A 3 39433147 39433147 G A snp 4792.77 1/1 99 178 0 178 1.0 intronic rs1995236 SLC25A38 AR NM_017875 exon4 c.7896+36G>A 0.836661 0.9286 0.872520 0.9376 0.9185 Uncertain 3_39435865_G->C 3 39435865 39435865 G C snp 99.28 1/1 9 3 0 3 1.0 intronic rs870843 SLC25A38 AR NM_017875 exon6 c.10685-35G>C 0.261781 0.2778 0.287329 0.2966 0.2515 Uncertain 3_39436227_A->C 3 39436227 39436227 A C snp 178.9 1/1 15 5 0 5 1.0 intronic rs35616367 SLC25A38 AR NM_017875 exon6 c.10852+160A>C 0.250799 0.2778 Uncertain 3_39436238_T->A 3 39436238 39436238 T A snp 99.28 1/1 9 3 0 3 1.0 intronic rs67035835 SLC25A38 AR NM_017875 exon6 c.10852+171T>A 0.250799 0.2778 Uncertain 3_39437702_-->A 3 39437702 39437702 - A indel 115.75 1/1 24 8 0 8 1.0 intronic rs34894781 SLC25A38 AR NM_017875 exon7 c.12673-186insA 0.242013 0.2778 Uncertain 3_39437715_T->A 3 39437715 39437715 T A snp 1020.77 1/1 75 27 0 27 1.0 intronic rs35086961 SLC25A38 AR NM_017875 exon7 c.12673-173T>A 0.244209 0.2778 Uncertain 3_39437800_A->G 3 39437800 39437800 A G snp 4332.77 1/1 99 160 0 160 1.0 intronic rs9877539 SLC25A38 AR NM_017875 exon7 c.12673-88A>G 0.876597 0.9315 Uncertain 3_39448204_C->T 3 39448204 39448204 C T snp 1260.77 1/1 93 34 0 34 1.0 UTR5 rs3772146 RPSA AD 0.257188 0.2788 Uncertain 3_39448424_T->C 3 39448424 39448424 T C snp 6294.77 1/1 99 231 0 231 1.0 intronic rs3772144 RPSA AD 0.250599 0.2778 0.2996 0.3261 Uncertain 3_39448581_T->G 3 39448581 39448581 T G snp 2747.77 1/1 99 102 0 102 1.0 intronic rs3772143 RPSA AD 0.436901 0.3194 0.4970 0.4086 Uncertain 3_39449137_T->C 3 39449137 39449137 T C snp 643.77 1/1 48 19 0 19 1.0 UTR5 rs1803893 RPSA AD 0.436701 0.3194 0.4610 0.2994 Uncertain 3_39449810_A->C 3 39449810 39449810 A C snp 222.84 1/1 18 6 0 6 1.0 intronic rs3772139 RPSA AD NM_001012321 exon2 c.952-286A>C 0.835264 0.9315 Uncertain 3_39450065_C->T 3 39450065 39450065 C T snp 4468.77 1/1 99 165 0 165 1.0 intronic rs3772138 RPSA AD NM_001012321 exon2 c.952-31C>T 0.250799 0.2778 0.270798 0.2928 0.2520 Uncertain 3_39450276_-->AT 3 39450276 39450276 - AT indel 943.73 1/1 60 22 0 22 1.0 intronic rs34149164 RPSA AD NM_001304288 exon3 c.1086+46insAT 0.250799 0.2778 0.2936 0.2522 Uncertain 3_39450362_G->A 3 39450362 39450362 G A snp 221.84 1/1 18 7 0 7 1.0 intronic rs34211462 RPSA AD NM_001304288 exon3 c.1086+132G>A 0.250799 0.2778 Uncertain 3_39450393_C->T 3 39450393 39450393 C T snp 99.28 1/1 9 3 0 3 1.0 intronic rs71325529 RPSA AD NM_001304288 exon3 c.1086+163C>T 0.250998 0.2778 Uncertain 3_39452106_A->G 3 39452106 39452106 A G snp 1851.77 1/1 99 61 0 61 1.0 intronic rs2077798 RPSA AD NM_001012321 exon3 c.3100-138A>G 0.250799 0.2778 Uncertain 3_39452772_A->G 3 39452772 39452772 A G snp 1441.77 1/1 99 50 0 50 1.0 intronic rs1392192 RPSA AD NM_001012321 exon3 c.3346+282A>G 0.250799 0.2778 Uncertain 3_39453160_G->A 3 39453160 39453160 G A snp 1113.77 1/1 84 32 1 31 0.97 exonic rs2269350 RPSA AD synonymous SNV NM_002295 exon5 c.G519A p.L173L 0.250799 0.2778 0.270721 0.2929 0.2522 Uncertain 3_39541386_T->C 3 39541386 39541386 T C snp 663.77 0/1 99 54 27 27 0.5 intronic rs1708057 MOBP AU 0.3127 0.2609 Uncertain 3_39541478_A->G 3 39541478 39541478 A G snp 1810.77 0/1 99 148 73 75 0.51 intronic rs1768241 MOBP AU 0.3127 0.2609 Uncertain 3_39541550_A->G 3 39541550 39541550 A G snp 1788.77 0/1 99 156 79 77 0.49 intronic rs1708059 MOBP AU 0.3127 0.2609 0.2550 0.2424 Uncertain 3_39541713_T->A 3 39541713 39541713 T A snp 215.77 0/1 99 15 7 8 0.53 intronic rs1768242 MOBP AU 0.3127 0.2609 Uncertain 3_39543487_A->T 3 39543487 39543487 A T snp 180.77 0/1 99 12 6 6 0.5 intronic rs1612165 MOBP AU 0.21845 0.2024 Uncertain 3_39554786_C->T 3 39554786 39554786 C T snp 362.77 0/1 99 34 19 15 0.44 intronic rs2233204 MOBP AU NM_001278322 exon5 c.11313-87C>T 0.172923 0.0645 Uncertain 3_39554946_C->T 3 39554946 39554946 C T snp 2461.77 0/1 99 228 112 116 0.51 UTR3 rs552724 MOBP AU 0.195288 0.2242 0.208135 0.1957 0.2063 Uncertain 3_40208247_G->T 3 40208247 40208247 G T snp 2841.77 1/1 99 107 2 105 0.98 intronic rs10460959 MYRIP AU NM_001284424 exon6 c.266029-89G>T 0.242812 0.3036 Uncertain 3_40208450_C->G 3 40208450 40208450 C G snp 2235.77 1/1 99 74 0 74 1.0 intronic rs12494283 MYRIP AU NM_001284424 exon6 c.266127+16C>G 0.245607 0.3036 0.221744 0.2860 0.2869 Uncertain 3_40231883_C->T 3 40231883 40231883 C T snp 2881.77 1/1 99 108 2 106 0.98 exonic rs1317317 MYRIP AU synonymous SNV NM_001284426 exon8 c.C1033T p.L345L 0.832468 0.7996 0.857758 0.8845 0.8009 Uncertain 3_40286017_T->C 3 40286017 40286017 T C snp 2079.77 1/1 99 77 0 77 1.0 exonic rs4618168 MYRIP AU synonymous SNV NM_001284426 exon11 c.T1620C p.S540S 0.648562 0.7629 0.544518 0.5204 0.7552 Uncertain 3_40291837_C->A 3 40291837 40291837 C A snp 2721.77 0/1 99 250 142 108 0.43 ncRNA_intronic rs532742215 EIF1B-AS1 AU 0.000199681 0.001 9.888e-05 0.0014 Uncertain 3_40351484_C->T 3 40351484 40351484 C T snp 5196.77 1/1 99 209 0 209 1.0 intronic rs11709089 EIF1B AU NM_005875 exon1 c.31+21C>T 0.381789 0.6042 0.305398 0.3694 0.6251 Uncertain 3_40352356_T->- 3 40352356 40352356 T - indel 344.75 0/1 24 31 6 25 0.81 intronic rs35523102 EIF1B AU NM_005875 exon2 c.951-27delT 0.503994 0.5466 0.4568 0.4612 Uncertain 3_40352640_A->G 3 40352640 40352640 A G snp 351.78 1/1 27 9 0 9 1.0 intronic rs1454490 EIF1B AU NM_005875 exon2 c.1115+93A>G 0.954473 1 Uncertain 3_40352647_C->G 3 40352647 40352647 C G snp 343.78 1/1 27 9 0 9 1.0 intronic rs1454491 EIF1B AU NM_005875 exon2 c.1115+100C>G 0.434305 0.6042 Uncertain 3_40352884_C->T 3 40352884 40352884 C T snp 1150.77 1/1 84 38 0 38 1.0 intronic rs1454492 EIF1B AU NM_005875 exon3 c.1528-76C>T 0.492612 0.6716 Uncertain 3_40353259_T->G 3 40353259 40353259 T G snp 274.8 1/1 21 10 0 10 1.0 intronic rs1470937 EIF1B AU NM_005875 exon3 c.1630+197T>G 0.954273 0.999 Uncertain 3_40353426_AG->- 3 40353426 40353427 AG - indel 1533.73 1/1 93 32 0 32 1.0 intronic rs34544743 EIF1B AU NM_005875 exon4 c.2028-34_2028-33delAG 0.483227 0.6716 0.398704 0.4278 0.6762 Uncertain 3_40435890_A->G 3 40435890 40435890 A G snp 3067.77 1/1 99 104 0 104 1.0 ncRNA_intronic rs72861689 ENTPD3-AS1 AU 0.393171 0.5218 0.3441 0.4921 1 T 0.0 P -0.938 T Uncertain 3_40442280_G->T 3 40442280 40442280 G T snp 311.78 1/1 24 9 0 9 1.0 ncRNA_intronic rs9875245 ENTPD3-AS1 AU 0.291933 0.5218 Uncertain 3_40442575_GAGGTCC->- 3 40442575 40442581 GAGGTCC - indel 1333.73 1/1 39 15 0 15 1.0 ncRNA_intronic rs112091498 ENTPD3-AS1 AU 0.283546 0.5218 Uncertain 3_40468896_C->T 3 40468896 40468896 C T snp 2489.77 0/1 99 204 94 110 0.54 exonic rs1047855 ENTPD3 AU nonsynonymous SNV NM_001248 exon11 c.C1487T p.A496V 0.277955 0.4881 0.225050 0.3119 0.4766 0.51 T 0.000 P -0.936 T 0.004 T 0.002 T Pathogenic 3_40498721_ACGC->- 3 40498721 40498724 ACGC - indel 1030.73 0/1 99 32 13 19 0.59 upstream rs3832263 RPL14 AU 0.284345 0.4851 Uncertain 3_40498845_C->T 3 40498845 40498845 C T snp 1383.77 0/1 99 109 51 58 0.53 UTR5 rs2276868 RPL14 AU 0.471046 0.4127 0.555513 0.6028 0.4264 Uncertain 3_40498933_A->G 3 40498933 40498933 A G snp 2217.77 1/1 99 86 0 86 1.0 UTR5 rs4973904 RPL14 AU 0.970847 1 0.970117 0.9890 1 Uncertain 3_40503520_-->CTGCTG 3 40503520 40503520 - CTGCTG indel 6061.73 ./1 99 68 0 68 1.0 exonic rs369485042 RPL14 AU nonframeshift insertion NM_001034996 exon6 c.445_446insCTGCTG p.T149delinsTAA 0.0714856 0.1131 0.077296 ID=COSM1044560;OCCURENCE=1(urinary_tract),1(breast),2(endometrium),1(ovary) Uncertain 3_40503520_-->CTGCTGCTGCTGCTG 3 40503520 40503520 - CTGCTGCTGCTGCTG indel 6061.73 ./1 99 68 0 68 1.0 exonic rs369485042 RPL14 AU nonframeshift insertion NM_001034996 exon6 c.445_446insCTGCTGCTGCTGCTG p.T149delinsTAAAAA 0.189297 0.1548 Uncertain 3_40503809_G->A 3 40503809 40503809 G A snp 608.77 0/1 99 45 18 27 0.6 UTR3 rs11539046 RPL14 AU 0.662141 0.5149 Uncertain 3_40505886_C->G 3 40505886 40505886 C G snp 1520.77 1/1 99 46 0 46 1.0 intergenic rs11129881 RPL14 AU 0.970847 1 Uncertain 3_40519429_T->C 3 40519429 40519429 T C snp 1088.77 1/1 78 37 0 37 1.0 UTR5 rs4553952 ZNF619 AU 0.993011 1 0.986421 0.9834 1 Uncertain 3_40519532_C->A 3 40519532 40519532 C A snp 799.77 0/1 99 65 32 33 0.51 intronic rs4128740 ZNF619 AU NM_001145083 exon2 c.46+38C>A 0.288938 0.4812 0.242663 0.3175 0.475 Uncertain 3_40552916_T->C 3 40552916 40552916 T C snp 115.77 0/1 99 16 11 5 0.31 intronic rs6790578 ZNF620 AU NM_175888 exon3 c.5117-44T>C 0.328275 0.4167 0.296171 0.3577 0.4023 Uncertain 3_40557272_TGTGTGTGTG->- 3 40557272 40557281 TGTGTGTGTG - indel 3492.73 0/1 99 46 10 36 0.78 intronic rs199636366 ZNF620 AU NM_175888 exon5 c.9507-78_9507-69delTGTGTGTGTG Uncertain 3_40557312_A->G 3 40557312 40557312 A G snp 603.77 0/1 99 66 34 32 0.48 intronic rs6804333 ZNF620 AU NM_175888 exon5 c.9507-38A>G 0.330471 0.4127 0.297863 0.0537 0.1354 Uncertain 3_41274764_C->A 3 41274764 41274764 C A snp 818.77 1/1 60 25 0 25 1.0 intronic rs2691680 CTNNB1 AU,AD NM_001098210 exon8 c.9272-67C>A 0.993411 0.997 Uncertain 3_41277040_C->T 3 41277040 41277040 C T snp 180.9 1/1 15 6 0 6 1.0 intronic rs11564465 CTNNB1 AU,AD NM_001098210 exon11 c.11655-174C>T 0.271965 0.2371 Uncertain 3_41280827_C->T 3 41280827 41280827 C T snp 870.77 0/1 99 88 51 37 0.42 exonic rs2293303 CTNNB1 AU,AD synonymous SNV NM_001904 exon15 c.C2340T p.D780D 0.043131 0.1468 0.001845 0.0274 0.1392 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000116849.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 3_41291081_G->A 3 41291081 41291081 G A snp 3269.77 1/1 99 122 0 122 1.0 intronic rs2293304 ULK4 AU NM_017886 exon2 c.2646+16G>A 0.277356 0.2569 0.342176 0.3980 0.2583 Uncertain 3_41497165_G->A 3 41497165 41497165 G A snp 798.77 0/1 99 58 29 29 0.5 intronic rs9841301 ULK4 AU NM_017886 exon4 c.208667+79G>A 0.282748 0.1319 Uncertain 3_41504866_A->G 3 41504866 41504866 A G snp 238.84 0/1 18 8 1 7 0.88 intronic rs2291758 ULK4 AU NM_017886 exon5 c.216325+122A>G 0.267372 0.129 Uncertain 3_41607701_C->G 3 41607701 41607701 C G snp 1939.77 1/1 99 62 0 62 1.0 intronic rs1565957 ULK4 AU NM_017886 exon6 c.319202+80C>G 0.677716 0.4821 Uncertain 3_41841716_A->C 3 41841716 41841716 A C snp 2038.77 1/1 99 76 0 76 1.0 exonic rs4973986 ULK4 AU nonsynonymous SNV NM_017886 exon20 c.T1918G p.S640A 0.870008 0.754 0.877040 0.8512 0.7862 1 T 1.000 P -0.929 T 0.0 T 0.0 T Pathogenic 3_41861165_A->G 3 41861165 41861165 A G snp 314.77 0/1 99 18 6 12 0.67 intronic rs75571497 ULK4 AU NM_017886 exon19 c.572579+167A>G 0.0151757 0.0744 Uncertain 3_41877353_C->T 3 41877353 41877353 C T snp 1219.77 0/1 99 150 88 62 0.41 splicing rs149890911 ULK4 AU NM_017886 exon20 c.588936-2C>T 0.00199681 0.0099 0.0009 0.0123 Pathogenic 3_41923514_AGGCC->- 3 41923514 41923518 AGGCC - indel 1253.73 1/1 54 18 0 18 1.0 intronic rs148915452 ULK4 AU NM_017886 exon21 c.636946-1851_636946-1847delAGGCC Uncertain 3_41923519_A->G 3 41923519 41923519 A G snp 673.77 1/1 51 19 0 19 1.0 intronic rs201662380 ULK4 AU NM_017886 exon21 c.636946-1846A>G Uncertain 3_41925261_AGAGAAAAAACAAGTGA->- 3 41925261 41925277 AGAGAAAAAACAAGTGA - indel 1367.77 1/1 21 7 0 7 1.0 intronic rs113374533 ULK4 AU NM_017886 exon21 c.636946-104_636946-88delAGAGAAAAAACAAGTGA 0.679513 0.8532 Uncertain 3_41925301_T->C 3 41925301 41925301 T C snp 893.77 1/1 66 26 0 26 1.0 intronic rs1716685 ULK4 AU NM_017886 exon21 c.636946-64T>C 0.688498 0.8532 Uncertain 3_41925398_C->T 3 41925398 41925398 C T snp 3714.77 1/1 99 150 1 149 0.99 exonic rs1052501 ULK4 AU nonsynonymous SNV NM_017886 exon17 c.G1624A p.A542T 0.688498 0.8532 0.683103 0.7885 0.8232 1 T 0.000 P -0.981 T 0.0 T 0.0 T ID=CM1213270;DIS=Multiple myeloma, increased risk;TAG=DP;PUB=22120009 DP Pathogenic 3_41925423_T->C 3 41925423 41925423 T C snp 3959.77 1/1 99 157 0 157 1.0 exonic rs1716687 ULK4 AU synonymous SNV NM_017886 exon17 c.A1599G p.V533V 0.919329 1 0.923839 0.9769 1 Uncertain 3_41937000_C->T 3 41937000 41937000 C T snp 227.84 1/1 18 8 0 8 1.0 intronic rs1717003 ULK4 AU NM_017886 exon22 c.648590-9C>T 0.688099 0.8532 0.673054 0.7785 0.8079 Uncertain 3_41938500_G->C 3 41938500 41938500 G C snp 1325.77 1/1 96 47 0 47 1.0 splicing rs1717005 ULK4 AU NM_017886 exon23 c.650076+5G>C 0.91893 1 0.924107 0.9769 1 Pathogenic 3_41939993_T->A 3 41939993 41939993 T A snp 1577.77 1/1 73 64 2 62 0.97 intronic rs1625226 ULK4 AU NM_017886 exon24 c.651565+9T>A 0.698083 0.7698 0.9546 0.9885 Uncertain 3_41942199_T->C 3 41942199 41942199 T C snp 4565.77 1/1 99 164 0 164 1.0 intronic rs1717007 ULK4 AU NM_017886 exon25 c.653797-17T>C 0.681909 0.8532 0.678278 0.7871 0.8242 Uncertain 3_41952781_C->T 3 41952781 41952781 C T snp 4411.77 1/1 99 160 0 160 1.0 intronic rs1716991 ULK4 AU NM_017886 exon27 c.664389-27C>T 0.940495 1 0.945706 0.9832 1 Uncertain 3_41957466_T->G 3 41957466 41957466 T G snp 952.77 1/1 69 36 0 36 1.0 splicing rs1716698 ULK4 AU NM_017886 exon30 c.669049-2T>G 0.68131 0.8512 0.675567 0.7865 0.8226 Pathogenic 3_41960006_T->C 3 41960006 41960006 T C snp 843.77 1/1 60 35 0 35 1.0 exonic rs1716975 ULK4 AU nonsynonymous SNV NM_017886 exon7 c.A670G p.I224V 0.679912 0.8522 0.674728 0.7847 0.8219 0.66 T 0.0 P -1.004 T 0.0 T 0.002 T Pathogenic 3_41961168_T->C 3 41961168 41961168 T C snp 802.77 1/1 60 27 0 27 1.0 intronic rs1716979 ULK4 AU NM_017886 exon32 c.672789-40T>C 0.308706 0.5992 0.285980 0.3532 0.5804 Uncertain 3_41977214_C->T 3 41977214 41977214 C T snp 386.77 1/1 30 13 0 13 1.0 intronic rs3934103 ULK4 AU NM_017886 exon34 c.688873-78C>T 0.738818 0.8512 Uncertain 3_41977489_CT->- 3 41977489 41977490 CT - indel 8555.73 1/1 99 168 0 168 1.0 intronic rs58069203 ULK4 AU NM_017886 exon34 c.689013+57_689013+58delCT 0.729433 0.8512 Uncertain 3_41996136_T->C 3 41996136 41996136 T C snp 7778.77 1/1 99 250 0 250 1.0 exonic rs2272007 ULK4 AU nonsynonymous SNV NM_017886 exon2 c.A116G p.K39R 0.682109 0.8512 0.678387 0.7869 0.8237 0.41 T 0.958 P -1.015 T 0.205 T 0.132 T Pathogenic 3_41996275_A->G 3 41996275 41996275 A G snp 3941.77 1/1 99 139 0 139 1.0 UTR5 rs7651623 ULK4 AU 0.915535 1 0.922916 0.9763 1 Uncertain 3_42218095_G->C 3 42218095 42218095 G C snp 845.77 1/1 63 21 0 21 1.0 intronic rs1010987 TRAK1 AU NM_001042646 exon3 c.85344-210G>C 0.658347 0.9454 Uncertain 3_42226151_T->C 3 42226151 42226151 T C snp 3341.77 1/1 99 127 0 127 1.0 intronic rs4234445 TRAK1 AU NM_001042646 exon4 c.93215-25T>C 0.742812 0.9792 0.674150 0.7204 0.9854 Uncertain 3_42229296_G->A 3 42229296 42229296 G A snp 56.74 1/1 6 2 0 2 1.0 intronic rs1463194 TRAK1 AU NM_001042646 exon5 c.96575-240G>A 0.736422 0.9782 Uncertain 3_42230395_C->T 3 42230395 42230395 C T snp 712.77 1/1 54 21 0 21 1.0 intronic rs3816396 TRAK1 AU NM_001042646 exon6 c.97546-112C>T 0.203075 0.3482 Uncertain 3_42230743_G->A 3 42230743 42230743 G A snp 391.77 1/1 30 11 0 11 1.0 intronic rs2290135 TRAK1 AU NM_001042646 exon6 c.97655+127G>A 0.236422 0.4415 Uncertain 3_42234740_G->A 3 42234740 42234740 G A snp 3594.77 1/1 99 130 0 130 1.0 intronic rs2290137 TRAK1 AU NM_001042646 exon8 c.101736+43G>A 0.221845 0.4405 0.203829 0.2486 0.4445 Uncertain 3_42236415_A->G 3 42236415 42236415 A G snp 4246.77 1/1 99 161 2 159 0.99 exonic rs9851455 TRAK1 AU synonymous SNV NM_001265609 exon9 c.A873G p.S291S 0.788339 0.9792 0.730201 0.7825 0.9863 Uncertain 3_42242687_G->A 3 42242687 42242687 G A snp 466.77 1/1 36 13 0 13 1.0 intronic rs9846541 TRAK1 AU NM_001042646 exon12 c.109585+141G>A 0.226637 0.4435 Uncertain 3_42244321_G->A 3 42244321 42244321 G A snp 5043.77 1/1 99 190 0 190 1.0 exonic rs9311309 TRAK1 AU synonymous SNV NM_001265610 exon12 c.G1599A p.A533A 0.74401 0.9792 0.7479 0.9862 Uncertain 3_42251577_-->GGA 3 42251577 42251577 - GGA indel 7273.73 1/1 99 198 4 194 0.98 exonic rs10634555 TRAK1 AU nonframeshift insertion NM_001265609 exon13 c.1841_1842insGGA p.T614delinsTE Uncertain 3_42264393_A->G 3 42264393 42264393 A G snp 1775.77 1/1 99 62 0 62 1.0 intronic rs3733053 TRAK1 AU NM_001042646 exon16 c.131472-40A>G 0.475439 0.4534 0.475037 0.4369 0.4469 Uncertain 3_42264422_T->C 3 42264422 42264422 T C snp 2621.77 1/1 99 92 0 92 1.0 intronic rs3733054 TRAK1 AU NM_001042646 exon16 c.131472-11T>C 0.475839 0.4544 0.481185 0.4380 0.4502 Uncertain 3_42265271_CTC->- 3 42265271 42265273 CTC - indel 4358.73 1/1 99 91 0 91 1.0 UTR3 rs3836498 TRAK1 AU 0.236022 0.3462 0.265398 0.3028 0.3393 Uncertain 3_42265369_C->T 3 42265369 42265369 C T snp 389.77 1/1 30 11 0 11 1.0 UTR3 rs3774391 TRAK1 AU 0.236821 0.3462 Uncertain 3_42265634_C->T 3 42265634 42265634 C T snp 2056.77 1/1 99 79 0 79 1.0 UTR3 rs1043610 TRAK1 AU 0.267772 0.3462 0.2725 0.3636 Uncertain 3_42299870_C->T 3 42299870 42299870 C T snp 190.9 1/1 15 8 0 8 1.0 intronic rs8192472 CCK AU NM_000729 exon1 c.134+147C>T 0.397764 0.5278 Uncertain 3_42304609_A->G 3 42304609 42304609 A G snp 624.77 1/1 48 16 0 16 1.0 intronic rs2278794 CCK AU NM_000729 exon2 c.5319-299A>G 0.548522 0.5506 Uncertain 3_42304784_A->G 3 42304784 42304784 A G snp 6668.77 1/1 99 248 0 248 1.0 intronic rs1868522 CCK AU NM_000729 exon2 c.5319-124A>G 0.548323 0.5506 0.5421 0.5943 Uncertain 3_42305131_C->G 3 42305131 42305131 C G snp 778.77 1/1 57 25 0 25 1.0 intronic rs754635 CCK AU NM_000729 exon2 c.5535+7C>G 0.765575 0.7173 0.826209 0.8438 0.7193 Uncertain 3_42560882_T->A 3 42560882 42560882 T A snp 2545.77 1/1 99 99 0 99 1.0 intronic rs28684623 VIPR1 AU NM_001251885 exon3 c.16560+60T>A 0.276757 0.3482 Uncertain 3_42568700_C->G 3 42568700 42568700 C G snp 294.78 1/1 24 8 0 8 1.0 intronic rs2276829 VIPR1 AU NM_001251885 exon5 c.24622-184C>G 0.246406 0.3542 Uncertain 3_42568929_T->C 3 42568929 42568929 T C snp 4757.77 1/1 99 171 0 171 1.0 exonic rs2229722 VIPR1 AU synonymous SNV NM_004624 exon5 c.T444C p.I148I 0.371206 0.5784 0.254037 0.2363 0.5885 Uncertain 3_42569108_T->C 3 42569108 42569108 T C snp 141.03 1/1 12 4 0 4 1.0 intronic rs2276832 VIPR1 AU NM_001251885 exon5 c.24726+120T>C 0.379593 0.5843 Uncertain 3_42595115_C->T 3 42595115 42595115 C T snp 50.74 1/1 6 2 0 2 1.0 intronic rs3774398 SEC22C AU NM_032970 exon1 c.201+175C>T 0.535942 0.5784 Uncertain 3_42598980_C->T 3 42598980 42598980 C T snp 141.03 1/1 12 4 0 4 1.0 intronic rs2271181 SEC22C AU NM_001201584 exon2 c.8962-89C>T 0.469249 0.4762 Uncertain 3_42599091_G->A 3 42599091 42599091 G A snp 2158.77 1/1 99 74 0 74 1.0 exonic rs2271184 SEC22C AU synonymous SNV NM_001201572 exon5 c.C624T p.H208H 0.335863 0.4712 0.265108 0.2346 0.4806 1.0 P -0.909 T Likely benign 3_42599234_C->T 3 42599234 42599234 C T snp 2139.77 1/1 99 74 0 74 1.0 intronic rs2271185 SEC22C AU NM_001201584 exon2 c.9081+46C>T 0.535343 0.5784 0.455867 0.3923 0.5974 Uncertain 3_42605402_A->C 3 42605402 42605402 A C snp 6810.77 1/1 99 233 0 233 1.0 intronic rs9311324 SEC22C AU NM_001201584 exon4 c.15071+224A>C 0.335663 0.4722 0.2319 0.4444 Uncertain 3_42610374_A->G 3 42610374 42610374 A G snp 1793.77 1/1 99 67 0 67 1.0 exonic rs2271186 SEC22C AU synonymous SNV NM_001201572 exon2 c.T165C p.G55G 0.535942 0.5843 0.450946 0.3926 0.6063 Uncertain 3_42610515_G->A 3 42610515 42610515 G A snp 1991.77 1/1 99 71 0 71 1.0 exonic rs2271187 SEC22C AU synonymous SNV NM_001201572 exon2 c.C24T p.C8C 0.313898 0.4673 0.238198 0.2224 0.4748 Uncertain 3_42610662_A->G 3 42610662 42610662 A G snp 99.28 1/1 9 4 1 3 0.75 intronic rs10461011 SEC22C AU NM_001201584 exon5 c.20458+97A>G 0.0155751 0.0774 Uncertain 3_42700456_C->T 3 42700456 42700456 C T snp 3815.77 1/1 99 148 0 148 1.0 exonic rs339724 ZBTB47 AU synonymous SNV NM_145166 exon2 c.C609T p.P203P 0.347444 0.4742 0.3269 0.4859 Uncertain 3_42700630_A->G 3 42700630 42700630 A G snp 2109.77 1/1 99 75 0 75 1.0 exonic rs339723 ZBTB47 AU synonymous SNV NM_145166 exon2 c.A783G p.P261P 0.550319 0.5923 0.452016 0.4917 0.5915 Uncertain 3_42727982_A->C 3 42727982 42727982 A C snp 1251.77 0/1 99 98 51 47 0.48 exonic rs74843241 KLHL40 AU nonsynonymous SNV NM_152393 exon1 c.A872C p.K291T 0.0107827 0.0427 0.000154 0.0055 0.0483 0.28 T 1 N -1.072 T 0.006 T 0.003 T Pathogenic 3_42728144_A->G 3 42728144 42728144 A G snp 2064.77 0/1 99 183 95 88 0.48 exonic rs6805421 KLHL40 AU nonsynonymous SNV NM_152393 exon1 c.A1034G p.N345S 0.622604 0.8343 0.559895 0.6489 0.8120 0.83 T 0.001 P -0.958 T 0.002 T 0.001 T Pathogenic 3_42730648_C->G 3 42730648 42730648 C G snp 510.77 0/1 99 31 15 16 0.52 intronic rs339701 KLHL40 AU NM_152393 exon4 c.3436+102C>G 0.172923 0.1776 Uncertain 3_42733468_T->C 3 42733468 42733468 T C snp 5675.77 1/1 99 197 0 197 1.0 exonic rs123509 KLHL40 AU nonsynonymous SNV NM_152393 exon6 c.T1849C p.C617R 0.89976 0.998 0.805167 0.8168 0.9993 1 T 0.991 P -0.961 T 0.0 T 0.0 T Pathogenic 3_42734750_C->A 3 42734750 42734750 C A snp 1163.77 0/1 99 103 58 45 0.44 intronic rs74853274 HHATL AU NM_020707 exon2 c.468+40C>A 0.0455272 0.1329 0.010995 0.0191 0.1352 Uncertain 3_42735150_T->C 3 42735150 42735150 T C snp 1226.77 0/1 99 128 72 56 0.44 exonic rs11079 HHATL AU nonsynonymous SNV NM_020707 exon10 c.A1207G p.M403V 0.649161 0.7113 0.611256 0.6080 0.7217 0.85 T 0.025 P -0.928 T 0.0 T 0.0 T Pathogenic 3_42735274_A->G 3 42735274 42735274 A G snp 781.77 0/1 99 76 41 35 0.46 exonic rs339697 HHATL AU synonymous SNV NM_020707 exon10 c.T1083C p.A361A 0.700479 0.7133 0.661618 0.6251 0.7246 Uncertain 3_42738297_G->A 3 42738297 42738297 G A snp 881.77 0/1 99 97 60 37 0.38 intronic rs2290973 HHATL AU NM_020707 exon4 c.4091-36G>A 0.477436 0.6627 0.447024 0.5287 0.6802 Uncertain 3_42740284_C->T 3 42740284 42740284 C T snp 2352.77 0/1 99 196 102 94 0.48 exonic rs139835860 HHATL AU synonymous SNV NM_020707 exon5 c.G399A p.S133S 0.0133786 0.0625 0.000538 0.0064 0.0810 Uncertain 3_42788511_G->T 3 42788511 42788511 G T snp 96.28 1/1 9 4 0 4 1.0 intronic rs339683 CCDC13 AU NM_144719 exon11 c.38277-237G>T 0.897165 0.998 Uncertain 3_42791123_A->G 3 42791123 42791123 A G snp 96.28 1/1 9 3 0 3 1.0 intronic rs339682 CCDC13 AU NM_144719 exon11 c.38394+2258A>G 0.897764 0.998 Uncertain 3_42799554_-->AC 3 42799554 42799554 - AC indel 377.73 0/1 99 16 4 12 0.75 intronic rs111697736 CCDC13 AU NM_144719 exon15 c.49145-62insAC Uncertain 3_42799858_T->A 3 42799858 42799858 T A snp 823.77 1/1 60 29 0 29 1.0 intronic rs339678 CCDC13 AU NM_144719 exon15 c.49372+15T>A 0.979433 1 0.962248 0.9624 1 Uncertain 3_42907112_A->C 3 42907112 42907112 A C snp 2446.77 1/1 99 90 0 90 1.0 exonic rs2228468 ACKR2 AU nonsynonymous SNV NM_001296 exon3 c.A1118C p.Y373S 0.441094 0.6776 0.347532 0.4218 0.6769 0.0 P -0.940 T 0.0 T 0.0 T ID=CM133877;DIS=Circulating monocyte count, association with;TAG=FP;PUB=23314186 FP Pathogenic 3_42917047_A->G 3 42917047 42917047 A G snp 5357.77 1/1 99 188 0 188 1.0 exonic rs9865715 CYP8B1 AU nonsynonymous SNV NM_004391 exon1 c.T262C p.S88P 0.984425 1 0.983700 0.9952 1 0.48 T 0.000 P -0.979 T 0.0 T 0.004 T Pathogenic 3_42947776_T->C 3 42947776 42947776 T C snp 322.78 1/1 24 13 0 13 1.0 UTR5 rs6789928 ZNF662 AU 0.939696 1 Uncertain 3_42954912_C->T 3 42954912 42954912 C T snp 598.77 1/1 45 18 0 18 1.0 intronic rs11129987 ZNF662 AU NM_207404 exon4 c.5188+118C>T 0.759784 0.9603 Uncertain 3_42956273_T->C 3 42956273 42956273 T C snp 2719.77 1/1 99 102 0 102 1.0 exonic rs1427801 ZNF662 AU synonymous SNV NM_001134656 exon4 c.T786C p.I262I 0.939097 1 0.931724 0.9704 0.9987 Uncertain 3_42956984_A->G 3 42956984 42956984 A G snp 263.8 1/1 21 8 0 8 1.0 UTR3 rs834579 ZNF662 AU 0.759784 0.9593 Uncertain 3_43073761_G->A 3 43073761 43073761 G A snp 4376.77 1/1 99 167 2 165 0.99 exonic rs658958 FAM198A AU synonymous SNV NM_001129908 exon2 c.G6A p.A2A 0.438299 0.6518 0.383706 0.4297 0.625 Uncertain 3_43074430_A->G 3 43074430 43074430 A G snp 4374.77 1/1 99 147 0 147 1.0 exonic rs2948619 FAM198A AU synonymous SNV NM_001129908 exon2 c.A675G p.G225G 0.67512 0.8016 0.575996 0.6122 0.7664 Uncertain 3_43074434_C->T 3 43074434 43074434 C T snp 4345.77 1/1 99 147 0 147 1.0 exonic rs2936817 FAM198A AU nonsynonymous SNV NM_001129908 exon2 c.C679T p.H227Y 0.438698 0.6518 0.383049 0.3712 0.6131 0.0 P -0.954 T 0.65 T 0.178 P Pathogenic 3_43074871_A->G 3 43074871 43074871 A G snp 5631.77 1/1 99 210 0 210 1.0 exonic rs588335 FAM198A AU synonymous SNV NM_001129908 exon2 c.A1116G p.A372A 0.948283 1 0.943933 0.9700 1 Uncertain 3_43095101_A->G 3 43095101 43095101 A G snp 4997.77 1/1 99 188 0 188 1.0 exonic rs536119 FAM198A AU nonsynonymous SNV NM_001129908 exon3 c.A1379G p.Q460R 0.541134 0.6696 0.559352 0.4977 0.6410 1 T 0.000 P -0.976 T 0.0 T 0.0 T Pathogenic 3_43097710_A->G 3 43097710 43097710 A G snp 4126.77 1/1 99 148 0 148 1.0 exonic rs664628 FAM198A AU synonymous SNV NM_001129908 exon5 c.A1560G p.L520L 0.389377 0.5823 0.352825 0.3295 0.5691 Uncertain 3_43121559_C->T 3 43121559 43121559 C T snp 6486.77 1/1 99 236 0 236 1.0 exonic rs604033 POMGNT2 AR synonymous SNV NM_032806 exon2 c.G1365A p.P455P 0.782748 0.7401 0.804321 0.7860 0.7126 Uncertain 3_43122966_G->A 3 43122966 43122966 G A snp 1385.77 1/1 99 54 1 53 0.98 UTR5 rs2936818 POMGNT2 AR 0.452476 0.624 0.384972 0.5186 0.6784 Uncertain 3_43414318_A->G 3 43414318 43414318 A G snp 1952.77 1/1 99 69 0 69 1.0 intronic rs6441771 ANO10 AR NM_001204831 exon2 c.87-21A>G 0.98143 1 0.9990 1 0.1 T 0.000 P -1.006 T 0.0 T 0.0 T Uncertain 3_43591142_G->A 3 43591142 43591142 G A snp 934.77 1/1 69 26 0 26 1.0 intronic rs12638282 ANO10 AR NM_001204832 exon3 c.182814-69G>A 0.542133 0.8274 Uncertain 3_43592906_T->C 3 43592906 43592906 T C snp 3344.77 1/1 99 115 0 115 1.0 intronic rs9829081 ANO10 AR NM_001204832 exon3 c.182943+1566T>C 0.847644 0.8869 Uncertain 3_43602803_C->T 3 43602803 43602803 C T snp 4435.77 1/1 99 168 0 168 1.0 exonic rs3772165 ANO10 AR nonsynonymous SNV NM_018075 exon9 c.G1385A p.R462Q 0.663139 0.8849 0.556897 0.6505 0.8849 0.32 T 0.000 P -0.999 T 0.63 T 0.074 P CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000116351.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 3_43607136_T->C 3 43607136 43607136 T C snp 391.77 1/1 33 15 0 15 1.0 intronic rs7616708 ANO10 AR NM_001204832 exon6 c.198747-8T>C 0.636781 0.8849 0.526790 0.6850 0.8982 Uncertain 3_43642126_C->A 3 43642126 43642126 C A snp 871.77 1/1 66 26 0 26 1.0 intronic rs6441785 ANO10 AR NM_001204834 exon10 c.233676+53C>A 0.825679 0.8869 Uncertain 3_43732371_A->G 3 43732371 43732371 A G snp 362.77 0/1 99 29 16 13 0.45 upstream rs74845403 ABHD5 AR 0.137979 0.122 Uncertain 3_43753078_A->G 3 43753078 43753078 A G snp 189.77 0/1 99 11 5 6 0.55 intronic rs17075899 ABHD5 AR NM_016006 exon4 c.20716-122A>G 0.139776 0.122 Uncertain 3_43756577_-->TG 3 43756577 43756577 - TG indel 3941.73 ./1 99 158 5 153 0.97 intronic rs10634281 ABHD5 AR NM_016006 exon5 c.24066+27insTG 0.423922 0.4425 Uncertain 3_43756577_-->TGTGTGTG 3 43756577 43756577 - TGTGTGTG indel 3941.73 ./1 99 158 5 153 0.97 intronic rs10662733 ABHD5 AR NM_016006 exon5 c.24066+27insTGTGTGTG Uncertain 3_43760062_T->G 3 43760062 43760062 T G snp 2037.77 0/1 99 208 115 93 0.45 UTR3 rs887472 ABHD5 AR 0.103435 0.0982 0.060895 0.0564 0.1017 Uncertain 3_44283525_A->G 3 44283525 44283525 A G snp 486.77 1/1 36 16 0 16 1.0 UTR5 rs9850927 TOPAZ1 AU 0.844249 0.8294 0.8401 0.8798 Uncertain 3_44283672_T->C 3 44283672 44283672 T C snp 1718.77 1/1 99 68 0 68 1.0 exonic rs9833423 TOPAZ1 AU nonsynonymous SNV NM_001145030 exon1 c.T127C p.C43R 0.855431 0.8294 0.8479 0.8574 1 T 0.0 P -0.987 T 0.0 T 0.0 T Pathogenic 3_44283808_C->A 3 44283808 44283808 C A snp 3669.77 1/1 99 134 0 134 1.0 exonic rs7645375 TOPAZ1 AU nonsynonymous SNV NM_001145030 exon1 c.C263A p.P88Q 0.850439 0.8056 0.822383 0.8431 0.8355 0.7 T 0.0 P -1.014 T 0.0 T 0.0 T Pathogenic 3_44284584_G->A 3 44284584 44284584 G A snp 1682.77 1/1 99 56 0 56 1.0 exonic rs9284879 TOPAZ1 AU nonsynonymous SNV NM_001145030 exon2 c.G586A p.V196I 0.563498 0.8085 0.419263 0.5608 0.8108 0.09 T 0.0 P -1.093 T 0.021 T 0.013 T Pathogenic 3_44296403_T->C 3 44296403 44296403 T C snp 2072.77 1/1 99 74 0 74 1.0 intronic rs4682960 TOPAZ1 AU NM_001145030 exon3 c.12914-56T>C 0.582069 0.8085 0.438458 Uncertain 3_44310592_T->C 3 44310592 44310592 T C snp 346.78 1/1 27 11 0 11 1.0 intronic rs5004668 TOPAZ1 AU NM_001145030 exon7 c.27162-115T>C 0.845248 0.8294 Uncertain 3_44329395_G->- 3 44329395 44329395 G - indel 1827.73 1/1 99 57 0 57 1.0 intronic rs11294162 TOPAZ1 AU NM_001145030 exon11 c.45786+64delG 0.582069 0.8085 Uncertain 3_44332176_T->C 3 44332176 44332176 T C snp 2733.77 1/1 99 105 0 105 1.0 intronic rs1488637 TOPAZ1 AU NM_001145030 exon12 c.48717-86T>C 0.855232 0.8294 Uncertain 3_44362408_G->A 3 44362408 44362408 G A snp 390.77 1/1 30 11 0 11 1.0 intronic rs9857957 TOPAZ1 AU NM_001145030 exon17 c.78973-110G>A 0.85643 0.8294 Uncertain 3_44369970_C->T 3 44369970 44369970 C T snp 1440.77 0/1 99 133 71 62 0.47 intronic rs182474401 TOPAZ1 AU NM_001145030 exon19 c.86380+45C>T 0.000998403 0.004 Uncertain 3_44399668_T->C 3 44399668 44399668 T C snp 1585.77 1/1 99 47 1 46 0.98 intronic rs4682970 TCAIM AU NM_001029839 exon4 c.3434-40T>C 0.877796 1 0.831866 0.8978 1 Uncertain 3_44408864_-->T 3 44408864 44408864 - T indel 277.75 1/1 24 8 0 8 1.0 intronic rs11407119 TCAIM AU NM_173826 exon5 c.12673-83insT 0.902356 1 Uncertain 3_44437870_A->C 3 44437870 44437870 A C snp 1997.77 1/1 99 72 0 72 1.0 intronic rs6441838 TCAIM AU NM_001282914 exon7 c.28831-21A>C 0.965256 1 0.964632 0.9907 0.9999 Uncertain 3_44540792_TC->- 3 44540792 44540793 TC - indel 6608.73 1/1 99 148 0 148 1.0 splicing rs36046723 ZNF852 AU NM_001287349 exon2 c.120-1_120+0delTC 0.999601 1 0.9999 1 Pathogenic 3_44599103_T->G 3 44599103 44599103 T G snp 398.77 1/1 30 12 0 12 1.0 intronic rs2293600 ZKSCAN7 AU NM_018651 exon2 c.423+141T>G 0.530152 0.8333 Uncertain 3_44612050_C->T 3 44612050 44612050 C T snp 3884.77 1/1 99 128 0 128 1.0 exonic rs9873604 ZKSCAN7 AU nonsynonymous SNV NM_001288592 exon5 c.C995T p.T332I 0.752196 0.8343 0.704521 0.7433 0.8421 1 T 0.0 P -0.976 T 0.0 T 0.001 T Pathogenic 3_44635461_G->A 3 44635461 44635461 G A snp 2547.77 1/1 99 85 0 85 1.0 intronic rs13319803 ZNF660 AU 0.53135 0.8343 0.5430 0.8608 Uncertain 3_44692564_C->G 3 44692564 44692564 C G snp 1270.77 1/1 96 34 0 34 1.0 exonic rs2272044 ZNF35 AU nonsynonymous SNV NM_003420 exon2 c.C5G p.T2S 0.315296 0.7907 0.106951 0.2404 0.7981 0 D 1.0 P -1.167 T 0.779 T 0.191 P Pathogenic 3_44763037_A->C 3 44763037 44763037 A C snp 1340.77 1/1 96 46 0 46 1.0 exonic rs7640654 ZNF502 AU nonsynonymous SNV NM_001134441 exon3 c.A728C p.E243A 0.538538 0.8353 0.411349 0.5312 0.8345 0.01 T 0.000 P -1.068 T 0.034 T 0.099 T Pathogenic 3_44775962_A->G 3 44775962 44775962 A G snp 3541.77 1/1 99 137 0 137 1.0 exonic rs4682752 ZNF501 AU nonsynonymous SNV NM_001258280 exon3 c.A49G p.M17V 0.695288 0.881 0.581109 0.6203 0.8908 0.01 T 0.083 P -1.003 T 0.0 T 0.0 T Pathogenic 3_44796049_G->C 3 44796049 44796049 G C snp 224.84 1/1 18 6 0 6 1.0 intronic rs3749199 KIAA1143 AU NM_020696 exon2 c.1028+189G>C 0.713059 0.881 Uncertain 3_44803109_AAGACAG->- 3 44803109 44803115 AAGACAG - indel 21456.7 1/1 99 244 0 244 1.0 UTR5 rs3082548 KIAA1143 AU 0.712061 0.88 0.547874 0.6076 0.8811 Uncertain 3_44816953_TT->- 3 44816953 44816954 TT - indel 463.73 1/1 42 23 0 23 1.0 intronic rs10574346 KIF15 AU NM_020242 exon3 c.13572+24_13572+25delTT 0.661542 0.8145 0.546515 0.5989 0.8119 Uncertain 3_44826315_-->T 3 44826315 44826315 - T indel 380.73 1/1 45 17 0 17 1.0 intronic rs397952260 KIF15 AU NM_020242 exon6 c.22979-21insT 0.5854 0.7752 Uncertain 3_44827793_T->C 3 44827793 44827793 T C snp 1232.77 1/1 90 36 0 36 1.0 intronic rs7642843 KIF15 AU NM_020242 exon7 c.24529-93T>C 0.694289 0.871 Uncertain 3_44835573_A->G 3 44835573 44835573 A G snp 222.84 1/1 18 6 0 6 1.0 intronic rs1463950 KIF15 AU NM_020242 exon8 c.32351-135A>G 0.698682 0.8929 Uncertain 3_44840612_-->T 3 44840612 44840612 - T indel 1066.73 1/1 78 26 0 26 1.0 intronic rs397936757 KIF15 AU NM_020242 exon10 c.36091+1164insT 0.672923 0.8938 Uncertain 3_44842704_A->G 3 44842704 44842704 A G snp 56.74 1/1 6 2 0 2 1.0 intronic rs9311362 KIF15 AU NM_020242 exon12 c.39584-237A>G 0.297724 0.5278 Uncertain 3_44854476_-->A 3 44854476 44854476 - A indel 65.73 0/1 99 17 10 7 0.41 intronic KIF15 AU NM_020242 exon19 c.51209-90insA Uncertain 3_44854563_A->G 3 44854563 44854563 A G snp 2879.77 1/1 99 95 1 94 0.99 splicing rs3762636 KIF15 AU NM_020242 exon19 c.51209-3A>G 0.540935 0.8512 0.405966 0.5247 0.8428 Pathogenic 3_44869026_A->T 3 44869026 44869026 A T snp 4439.77 1/1 99 165 1 164 0.99 splicing rs4682999 KIF15 AU NM_020242 exon23 c.65663+6A>T 0.997604 1 0.995002 0.9987 1 Pathogenic 3_44882784_C->T 3 44882784 44882784 C T snp 307.78 1/1 24 9 0 9 1.0 intronic rs6766221 KIF15 AU NM_020242 exon29 c.79373+54C>T 0.539736 0.8492 Uncertain 3_44884647_C->A 3 44884647 44884647 C A snp 3970.77 1/1 99 142 0 142 1.0 exonic rs3804583 KIF15 AU nonsynonymous SNV NM_020242 exon30 c.C3616A p.L1206M 0.527756 0.8492 0.392050 0.5201 0.8398 0.2 T 0.506 P -0.985 T 0.053 T 0.021 T Pathogenic 3_44906746_A->G 3 44906746 44906746 A G snp 2612.77 1/1 99 87 0 87 1.0 UTR3 rs10429 TMEM42 AU 0.82528 1 Uncertain 3_44929114_G->A 3 44929114 44929114 G A snp 625.77 0/1 99 53 31 22 0.42 intronic rs79945336 TGM4 AU NM_003241 exon3 c.13010-66G>A 0.0311502 0.0962 Uncertain 3_44929287_G->C 3 44929287 44929287 G C snp 6476.77 1/1 99 238 0 238 1.0 exonic rs2271087 TGM4 AU nonsynonymous SNV NM_003241 exon3 c.G300C p.E100D 0.427117 0.8165 0.254344 0.3792 0.8312 0.31 T 0.000 P -0.957 T 0.912 T 0.6 D Pathogenic 3_44932270_C->T 3 44932270 44932270 C T snp 2277.77 1/1 99 76 0 76 1.0 intronic rs937837 TGM4 AU NM_003241 exon4 c.16054+46C>T 0.339058 0.7887 0.165078 0.2959 0.7871 Uncertain 3_44935019_C->T 3 44935019 44935019 C T snp 840.77 1/1 63 23 0 23 1.0 intronic rs62242575 TGM4 AU NM_003241 exon5 c.18898-49C>T 0.338458 0.7887 0.164847 0.2970 0.7881 Uncertain 3_44943069_C->T 3 44943069 44943069 C T snp 4342.77 1/1 99 158 1 157 0.99 exonic rs1995640 TGM4 AU synonymous SNV NM_003241 exon7 c.C711T p.Y237Y 0.567292 0.8006 0.445564 0.4992 0.8287 Uncertain 3_44943389_G->A 3 44943389 44943389 G A snp 3336.77 1/1 99 120 0 120 1.0 exonic rs1995641 TGM4 AU nonsynonymous SNV NM_003241 exon8 c.G937A p.E313K 0.555112 0.7996 0.432954 0.4899 0.8266 0.21 T 0.0 P -1.000 T 0.582 P 0.13 P Pathogenic 3_44948479_C->T 3 44948479 44948479 C T snp 1848.77 1/1 99 68 0 68 1.0 exonic rs3749195 TGM4 AU nonsynonymous SNV NM_003241 exon10 c.C1114T p.R372C 0.674521 0.8869 0.532370 0.5714 0.9026 0 D 0.404 P -1.079 T 0.98 D 0.427 D Pathogenic 3_44948590_G->A 3 44948590 44948590 G A snp 3174.77 1/1 99 117 0 117 1.0 exonic rs9876921 TGM4 AU nonsynonymous SNV NM_003241 exon10 c.G1225A p.V409I 0.619409 0.8849 0.470014 0.5521 0.8972 0.16 T 0.0 P -0.961 T 0.002 T 0.002 T Pathogenic 3_44948770_G->A 3 44948770 44948770 G A snp 1049.77 1/1 78 31 0 31 1.0 intronic rs4622937 TGM4 AU NM_003241 exon10 c.32522+78G>A 0.619609 0.8849 Uncertain 3_44951965_G->A 3 44951965 44951965 G A snp 111.77 0/1 99 9 5 4 0.44 intronic rs3749194 TGM4 AU NM_003241 exon11 c.35690+105G>A 0.00658946 0.0308 Uncertain 3_44952407_G->C 3 44952407 44952407 G C snp 1019.77 1/1 72 40 0 40 1.0 intronic rs1520082 TGM4 AU NM_003241 exon12 c.36279-42G>C 0.685903 0.9067 0.530909 0.5739 0.9076 Uncertain 3_44952942_A->C 3 44952942 44952942 A C snp 598.77 1/1 45 19 0 19 1.0 intronic rs6777798 TGM4 AU NM_003241 exon13 c.36728+44A>C 0.687101 0.9067 0.536214 0.5742 0.9065 Uncertain 3_45017904_A->T 3 45017904 45017904 A T snp 3249.77 1/1 99 120 1 119 0.99 intronic rs6441873 EXOSC7 AU NM_015004 exon1 c.57+78A>T 0.589058 0.8581 Uncertain 3_45017905_G->T 3 45017905 45017905 G T snp 3270.77 1/1 99 122 1 121 0.99 intronic rs6441874 EXOSC7 AU NM_015004 exon1 c.57+79G>T 0.589257 0.8581 Uncertain 3_45049186_A->G 3 45049186 45049186 A G snp 216.84 1/1 18 6 0 6 1.0 intronic rs11130040 EXOSC7 AU NM_015004 exon7 c.31298+119A>G 0.720447 0.9077 Uncertain 3_45052775_G->C 3 45052775 45052775 G C snp 3479.77 1/1 99 129 0 129 1.0 exonic rs6794 EXOSC7 AU nonsynonymous SNV NM_015004 exon8 c.G820C p.V274L 0.705871 0.9008 0.568968 0.5940 0.8937 1 T 1.000 P -0.979 T 0.0 T 0.0 T Pathogenic 3_45068074_A->G 3 45068074 45068074 A G snp 1385.77 1/1 99 45 0 45 1.0 intronic rs2301282 CLEC3B AU NM_003278 exon1 c.109+111A>G 0.606629 0.8601 Uncertain 3_45077123_G->A 3 45077123 45077123 G A snp 6743.77 1/1 99 238 0 238 1.0 exonic rs13963 CLEC3B AU nonsynonymous SNV NM_003278 exon3 c.G316A p.G106S 0.563498 0.8591 0.399200 0.4854 0.8627 0.32 T 0.627 P -1.081 T 0.099 T 0.101 T Pathogenic 3_45077458_G->A 3 45077458 45077458 G A snp 768.77 1/1 60 26 0 26 1.0 UTR3 rs8318 CLEC3B AU 0.59385 0.8681 0.381978 0.5690 0.8903 Uncertain 3_45127515_T->C 3 45127515 45127515 T C snp 4060.77 1/1 99 147 0 147 1.0 exonic rs9874077 CDCP1 AU nonsynonymous SNV NM_022842 exon9 c.A2126G p.D709G 0.929313 1 0.927572 0.9792 1 1 T 0.008 P -0.955 T 0.0 T 0.0 T Pathogenic 3_45133130_-->G 3 45133130 45133130 - G indel 375.73 0/1 99 35 20 15 0.43 intronic rs571678650 CDCP1 AU NM_022842 exon3 c.5901+100insG 0.000599042 0.002 Uncertain 3_45134822_T->C 3 45134822 45134822 T C snp 2214.77 1/1 99 79 0 79 1.0 exonic rs3749191 CDCP1 AU nonsynonymous SNV NM_022842 exon6 c.A1574G p.Q525R 0.732029 0.9554 0.615946 0.7036 0.9779 0.84 T 0.0 P -0.919 T 0.0 T 0.001 T Pathogenic 3_45137087_T->G 3 45137087 45137087 T G snp 185.9 1/1 15 6 0 6 1.0 intronic rs2037358 CDCP1 AU NM_022842 exon5 c.9931+27T>G 0.507987 0.7966 0.382131 0.5266 0.8119 Uncertain 3_45153422_A->G 3 45153422 45153422 A G snp 150.9 1/1 15 5 0 5 1.0 intronic rs6778556 CDCP1 AU NM_178181 exon2 c.1618-152A>G 0.767572 0.6548 Uncertain 3_45187524_A->G 3 45187524 45187524 A G snp 131.03 1/1 12 5 0 5 1.0 intronic rs1863836 CDCP1 AU NM_178181 exon4 c.35741-173A>G 0.92492 1 Uncertain 3_45187537_T->A 3 45187537 45187537 T A snp 88.77 0/1 61 7 2 5 0.71 intronic rs56190366 CDCP1 AU NM_178181 exon4 c.35741-160T>A 0.283946 0.2589 Uncertain 3_45187671_C->T 3 45187671 45187671 C T snp 1283.77 0/1 99 102 48 54 0.53 intronic rs1863837 CDCP1 AU NM_178181 exon4 c.35741-26C>T 0.640575 0.7411 0.580303 0.6585 0.7644 Uncertain 3_45266555_T->C 3 45266555 45266555 T C snp 40.77 0/1 31 3 1 2 0.67 UTR3 rs33749 TMEM158 AU 0.663139 0.8433 Uncertain 3_45267058_G->A 3 45267058 45267058 G A snp 613.77 0/1 99 43 21 22 0.51 exonic rs33750 TMEM158 AU synonymous SNV NM_015444 exon1 c.C462T p.T154T 0.309105 0.3542 0.5 . Uncertain 3_45267310_C->T 3 45267310 45267310 C T snp 984.77 0/1 99 65 20 45 0.69 exonic rs41118 TMEM158 AU synonymous SNV NM_015444 exon1 c.G210A p.A70A 0.653754 0.8423 0.7676 0.8182 Uncertain 3_45267321_C->T 3 45267321 45267321 C T snp 837.77 0/1 99 56 20 36 0.64 exonic rs395917 TMEM158 AU nonsynonymous SNV NM_015444 exon1 c.G199A p.A67T 0.644968 0.8423 0.7701 0.8243 0.12 T 0.010 P -1.015 T Pathogenic 3_45461102_-->T 3 45461102 45461102 - T indel 4438.73 0/1 99 217 90 127 0.59 intronic rs11383389 LARS2 AR NM_015340 exon6 c.25215-58insT 0.660343 0.3115 0.795879 Uncertain 3_45500174_C->A 3 45500174 45500174 C A snp 2107.77 1/1 99 81 0 81 1.0 intronic rs745551 LARS2 AR NM_015340 exon8 c.64289-60C>A 0.86242 0.994 Uncertain 3_45515648_T->C 3 45515648 45515648 T C snp 336.77 0/1 99 27 12 15 0.56 intronic rs11919039 LARS2 AR NM_015340 exon9 c.79789-86T>C 0.503594 0.7788 Uncertain 3_45517799_T->C 3 45517799 45517799 T C snp 518.77 1/1 39 15 0 15 1.0 intronic rs3733117 LARS2 AR NM_015340 exon10 c.82014-160T>C 0.783746 0.9782 Uncertain 3_45527099_C->G 3 45527099 45527099 C G snp 3616.77 1/1 99 126 0 126 1.0 ncRNA_intronic rs7640603 LARS2-AS1 AU 0.864816 1 Uncertain 3_45527218_T->C 3 45527218 45527218 T C snp 4968.77 1/1 99 189 0 189 1.0 exonic rs7610357 LARS2 AR synonymous SNV NM_015340 exon11 c.T1053C p.L351L 0.782947 0.9782 0.774181 0.9026 0.9770 Uncertain 3_45530401_G->A 3 45530401 45530401 G A snp 734.77 0/1 99 70 38 32 0.46 ncRNA_intronic rs3733116 LARS2-AS1 AU 0.503195 0.7768 Uncertain 3_45533224_G->A 3 45533224 45533224 G A snp 4492.77 1/1 99 162 0 162 1.0 exonic rs2128361 LARS2 AR synonymous SNV NM_015340 exon13 c.G1455A p.A485A 0.782748 0.9782 0.774258 0.9025 0.9771 Uncertain 3_45537973_C->T 3 45537973 45537973 C T snp 436.77 0/1 99 43 24 19 0.44 ncRNA_intronic rs12638088 LARS2-AS1 AU 0.246006 0.1925 Uncertain 3_45542083_T->C 3 45542083 45542083 T C snp 1000.77 0/1 99 80 45 35 0.44 ncRNA_intronic rs2306522 LARS2-AS1 AU 0.503395 0.7788 0.476165 0.6073 0.7836 Uncertain 3_45557707_G->A 3 45557707 45557707 G A snp 1040.77 0/1 99 94 54 40 0.43 exonic rs11549809 LARS2 AR synonymous SNV NM_015340 exon17 c.G1983A p.T661T 0.246206 0.1935 0.283715 0.2857 0.1917 Uncertain 3_45559519_T->C 3 45559519 45559519 T C snp 3341.77 1/1 99 121 0 121 1.0 exonic rs2170549 LARS2 AR synonymous SNV NM_015340 exon18 c.T2169C p.A723A 0.849441 1 0.851453 0.9515 0.9995 Uncertain 3_45559621_C->T 3 45559621 45559621 C T snp 500.77 0/1 99 35 17 18 0.51 intronic rs2276860 LARS2 AR NM_015340 exon18 c.123619+57C>T 0.245607 0.1935 Uncertain 3_45565554_A->G 3 45565554 45565554 A G snp 2334.77 1/1 99 89 0 89 1.0 exonic rs267220 LARS2 AR synonymous SNV NM_015340 exon20 c.A2358G p.V786V 0.860823 1 0.868676 0.9575 0.9995 Uncertain 3_45583297_C->T 3 45583297 45583297 C T snp 732.77 0/1 99 46 20 26 0.57 intronic rs34191038 LARS2 AR NM_015340 exon21 c.147375-23C>T 0.129193 0.126 0.162079 0.1565 0.1240 Uncertain 3_45636335_A->G 3 45636335 45636335 A G snp 267.8 1/1 21 8 0 8 1.0 UTR5 rs267238 LIMD1 AU 0.508786 0.6538 0.438327 0.0032 0.0015 Uncertain 3_45637253_C->T 3 45637253 45637253 C T snp 4567.77 1/1 99 161 0 161 1.0 exonic rs267237 LIMD1 AU synonymous SNV NM_014240 exon1 c.C882T p.T294T 0.685104 0.9345 0.581578 0.6245 0.9384 Uncertain 3_45637439_T->C 3 45637439 45637439 T C snp 5441.77 1/1 99 197 0 197 1.0 exonic rs267236 LIMD1 AU synonymous SNV NM_014240 exon1 c.T1068C p.G356G 0.735823 0.9345 0.656005 0.6653 0.9385 Uncertain 3_45677637_G->T 3 45677637 45677637 G T snp 6558.77 1/1 99 233 1 232 1.0 splicing rs62242177 LIMD1 AU NM_014240 exon2 c.41270-4G>T 0.503994 0.501 Pathogenic 3_45677638_C->G 3 45677638 45677638 C G snp 6636.77 1/1 99 232 1 231 1.0 splicing rs62242178 LIMD1 AU NM_014240 exon2 c.41270-3C>G 0.495008 0.5 Pathogenic 3_45677639_A->C 3 45677639 45677639 A C snp 6745.77 1/1 99 234 1 233 1.0 splicing rs63132361 LIMD1 AU NM_014240 exon2 c.41270-2A>C 0.495008 0.5 0.048055 0.9868 0.9773 Pathogenic 3_45677782_G->A 3 45677782 45677782 G A snp 794.77 0/1 99 75 45 30 0.4 intronic rs36136468 LIMD1 AU NM_014240 exon2 c.41372+39G>A 0.152157 0.2212 0.193372 0.1997 0.2415 Uncertain 3_45715160_T->- 3 45715160 45715160 T - indel 475.73 0/1 99 27 11 16 0.59 intronic rs35737275 LIMD1 AU NM_014240 exon6 c.78626+163delT 0.849241 0.7808 Uncertain 3_45715688_G->A 3 45715688 45715688 G A snp 495.77 0/1 99 30 11 19 0.63 intronic rs2578679 LIMD1 AU NM_014240 exon7 c.79463-146G>A 0.854633 0.7837 Uncertain 3_45718327_T->G 3 45718327 45718327 T G snp 1003.77 0/1 99 75 37 38 0.51 intronic rs7640969 LIMD1 AU NM_014240 exon8 c.82042-86T>G 0.392572 0.5198 Uncertain 3_45754685_A->G 3 45754685 45754685 A G snp 451.77 0/1 99 46 25 21 0.46 exonic rs2271619 SACM1L AU synonymous SNV NM_014016 exon6 c.A540G p.P180P 0.13738 0.12 0.152699 0.1250 0.1517 Uncertain 3_45755636_G->C 3 45755636 45755636 G C snp 280.77 0/1 99 24 10 14 0.58 intronic rs6764981 SACM1L AU NM_014016 exon7 c.24614+65G>C 0.13738 0.12 0.151963 Uncertain 3_45761115_G->C 3 45761115 45761115 G C snp 721.77 0/1 99 119 79 40 0.34 intronic rs2064062 SACM1L AU NM_014016 exon8 c.30136+22G>C 0.545527 0.3839 0.651723 0.6079 0.3931 Uncertain 3_45763635_A->G 3 45763635 45763635 A G snp 2306.77 0/1 99 225 121 104 0.46 intronic rs2673062 SACM1L AU NM_014016 exon9 c.32620+58A>G 0.545727 0.3839 0.669733 Uncertain 3_45764246_A->G 3 45764246 45764246 A G snp 261.77 0/1 99 14 6 8 0.57 intronic rs2742448 SACM1L AU NM_014016 exon10 c.33403-114A>G 0.546725 0.3849 Uncertain 3_45764544_T->C 3 45764544 45764544 T C snp 956.77 0/1 99 73 41 32 0.44 intronic rs2742449 SACM1L AU NM_014016 exon10 c.33490+97T>C 0.545527 0.3839 Uncertain 3_45772742_T->C 3 45772742 45772742 T C snp 735.77 0/1 99 56 28 28 0.5 intronic rs2531755 SACM1L AU NM_014016 exon12 c.41835-50T>C 0.545527 0.3839 0.604538 0.5989 0.3743 Uncertain 3_45772744_C->T 3 45772744 45772744 C T snp 732.77 0/1 99 59 31 28 0.47 intronic rs11708140 SACM1L AU NM_014016 exon12 c.41835-48C>T 0.10603 0.12 0.1148 0.1457 Uncertain 3_45772772_G->A 3 45772772 45772772 G A snp 1220.77 0/1 99 101 52 49 0.49 intronic rs2673055 SACM1L AU NM_014016 exon12 c.41835-20G>A 0.545527 0.3839 0.651084 0.6029 0.3879 Uncertain 3_45773732_G->A 3 45773732 45773732 G A snp 214.77 0/1 99 29 19 10 0.34 intronic rs11709306 SACM1L AU NM_014016 exon13 c.42686+89G>A 0.545527 0.3839 Uncertain 3_45776875_-->T 3 45776875 45776875 - T indel 367.73 0/1 99 84 25 59 0.7 intronic rs35082575 SACM1L AU NM_014016 exon14 c.45908+10insT 0.1203 0.1435 Uncertain 3_45779136_A->T 3 45779136 45779136 A T snp 1081.77 0/1 99 67 26 41 0.61 exonic rs1468542 SACM1L AU nonsynonymous SNV NM_014016 exon15 c.A1301T p.Y434F 0.548323 0.3958 0.651776 0.6017 0.3902 1 T 1.000 P -0.985 T 0.001 T 0.001 T Pathogenic 3_45780906_A->G 3 45780906 45780906 A G snp 269.77 0/1 96 12 4 8 0.67 intronic rs3733107 SACM1L AU NM_014016 exon19 c.50121-172A>G 0.340855 0.5188 Uncertain 3_45781188_T->G 3 45781188 45781188 T G snp 704.77 0/1 99 52 26 26 0.5 intronic rs3821890 SACM1L AU NM_014016 exon19 c.50179+52T>G 0.138179 0.12 0.154153 0.1247 0.1513 Uncertain 3_45799871_C->T 3 45799871 45799871 C T snp 1018.77 1/1 72 39 0 39 1.0 UTR3 rs2251347 SLC6A20 AR,AD 0.963458 0.9206 Uncertain 3_45817418_A->G 3 45817418 45817418 A G snp 7424.77 1/1 99 249 0 249 1.0 exonic rs758386 SLC6A20 AR,AD synonymous SNV NM_020208 exon4 c.T417C p.C139C 0.948882 0.9107 0.961710 0.9565 0.9148 Uncertain 3_45837886_G->C 3 45837886 45837886 G C snp 3180.76 0/1 99 250 135 115 0.46 exonic rs2271615 SLC6A20 AR,AD nonsynonymous SNV NM_020208 exon1 c.C26G p.A9G 0.0884585 0.0833 0.111564 0.1279 0.0631 0.33 T 0.000 P -1.097 T 0.0 T 0.0 T Pathogenic 3_45838013_G->T 3 45838013 45838013 G T snp 1681.77 0/1 99 119 63 56 0.47 UTR5 rs2271616 SLC6A20 AR,AD 0.0808706 0.0794 Uncertain 3_45869972_C->T 3 45869972 45869972 C T snp 2450.77 0/1 99 212 104 108 0.51 exonic rs1129183 LZTFL1 AR nonsynonymous SNV NM_020347 exon8 c.G736A p.D246N 0.0541134 0.0387 0.067354 0.0737 0.0437 0.03 T 1.000 P -0.859 T 0.939 T 0.315 D Pathogenic 3_45883711_A->T 3 45883711 45883711 A T snp 236.77 0/1 55 10 2 8 0.8 upstream rs2286487 LZTFL1 AR 0.0611022 0.0387 Uncertain 3_45963497_G->T 3 45963497 45963497 G T snp 303.78 1/1 24 9 0 9 1.0 intronic rs7618618 FYCO1 AR NM_024513 exon1 c.76+165G>T 0.896565 1 Uncertain 3_45977866_C->T 3 45977866 45977866 C T snp 379.77 0/1 99 34 20 14 0.41 intronic rs4535265 FYCO1 AR NM_024513 exon4 c.14683-73C>T 0.379792 0.6448 Uncertain 3_45977899_T->C 3 45977899 45977899 T C snp 1780.77 1/1 99 61 0 61 1.0 intronic rs1873002 FYCO1 AR NM_024513 exon4 c.14683-40T>C 1 1 0.999692 0.9999 0.9992 Uncertain 3_45979877_G->A 3 45979877 45979877 G A snp 157.77 0/1 99 16 8 8 0.5 intronic rs9875616 FYCO1 AR NM_024513 exon4 c.14779+1842G>A 0.872604 0.9544 Uncertain 3_45989044_T->G 3 45989044 45989044 T G snp 778.77 0/1 99 47 23 24 0.51 UTR3 rs2234358 CXCR6 AU 0.551118 0.6528 0.454175 0.5574 0.6619 Uncertain 3_45996761_G->A 3 45996761 45996761 G A snp 508.77 0/1 99 51 28 23 0.45 exonic rs1463680 FYCO1 AR synonymous SNV NM_024513 exon14 c.C3924T p.L1308L 0.867212 0.9544 0.770952 0.7921 0.9579 1.000 P -1.030 T Likely benign 3_46000076_T->A 3 46000076 46000076 T A snp 2637.77 0/1 99 193 78 115 0.6 exonic rs781137188 FYCO1 AR nonsynonymous SNV NM_024513 exon13 c.A3623T p.N1208I 8.24e-06 0.0001 0.996 D -0.019 T 1.0 D 1.0 D Pathogenic 3_46001063_G->A 3 46001063 46001063 G A snp 2215.77 0/1 99 193 95 98 0.51 intronic rs1532071 FYCO1 AR NM_024513 exon7 c.37778+29G>A 0.533946 0.6518 0.438259 0.5527 0.6587 Uncertain 3_46006719_T->C 3 46006719 46006719 T C snp 1157.77 0/1 99 95 52 43 0.45 intronic rs3796374 FYCO1 AR NM_024513 exon10 c.43361+102T>C 0.0271565 0.0407 Uncertain 3_46007702_T->C 3 46007702 46007702 T C snp 587.77 0/1 99 39 18 21 0.54 intronic rs1994490 FYCO1 AR NM_024513 exon11 c.44512-66T>C 0.532947 0.6667 Uncertain 3_46008790_G->A 3 46008790 46008790 G A snp 1446.77 0/1 99 110 48 62 0.56 exonic rs3796375 FYCO1 AR nonsynonymous SNV NM_024513 exon8 c.C2036T p.A679V 0.395168 0.6607 0.333128 0.4303 0.6701 0.24 T 0.081 P -0.979 T 0.987 D 0.41 D Pathogenic 3_46009864_C->G 3 46009864 46009864 C G snp 1179.77 0/1 99 156 100 56 0.36 exonic rs3733100 FYCO1 AR nonsynonymous SNV NM_024513 exon8 c.G962C p.G321A 0.532947 0.6667 0.443180 0.5670 0.6783 1 T 0.000 P -0.946 T 0.0 T 0.0 T Pathogenic 3_46010077_C->T 3 46010077 46010077 C T snp 6835.77 1/1 99 244 0 244 1.0 exonic rs4683158 FYCO1 AR nonsynonymous SNV NM_024513 exon8 c.G749A p.R250Q 0.928115 1 0.832078 0.8468 0.9997 1 T 0.000 P -0.966 T 0.0 T 0.0 T Pathogenic 3_46016599_T->G 3 46016599 46016599 T G snp 246.77 0/1 99 20 11 9 0.45 intronic rs3821884 FYCO1 AR NM_024513 exon14 c.53474-131T>G 0.627196 0.6647 Uncertain 3_46016851_A->T 3 46016851 46016851 A T snp 1050.77 0/1 99 95 50 45 0.47 intronic rs751552 FYCO1 AR NM_024513 exon14 c.53581+14A>T 0.386981 0.6607 0.326849 0.4305 0.6720 Uncertain 3_46016944_C->T 3 46016944 46016944 C T snp 509.77 0/1 99 34 15 19 0.56 intronic rs751553 FYCO1 AR NM_024513 exon14 c.53581+107C>T 0.386781 0.6607 Uncertain 3_46021218_G->T 3 46021218 46021218 G T snp 1215.77 1/1 87 42 0 42 1.0 exonic rs4682801 FYCO1 AR synonymous SNV NM_024513 exon4 c.C267A p.R89R 0.762979 1 0.658081 0.7989 0.9997 Uncertain 3_46021452_T->G 3 46021452 46021452 T G snp 462.77 0/1 99 30 11 19 0.63 intronic rs35537559 FYCO1 AR NM_024513 exon15 c.58066+130T>G 0.233227 0.3413 Uncertain 3_46026210_A->- 3 46026210 46026210 A - indel 853.73 1/1 63 21 0 21 1.0 intronic rs11338292 FYCO1 AR NM_024513 exon17 c.63091-137delA 0.625599 0.996 Uncertain 3_46026259_G->A 3 46026259 46026259 G A snp 638.77 0/1 99 65 39 26 0.4 intronic rs3733097 FYCO1 AR NM_024513 exon17 c.63091-88G>A 0.386781 0.6548 Uncertain 3_46306130_G->T 3 46306130 46306130 G T snp 31.77 0/1 60 6 4 2 0.33 intronic rs3091250 CCR3 AU NM_178328 exon2 c.52+184G>T 0.346246 0.5913 ID=CR099890;DIS=Aspirin-exacerbated respiratory disease, association with;TAG=DFP;PUB=20022477 DFP Uncertain 3_46399798_T->C 3 46399798 46399798 T C snp 3638.77 0/1 99 250 111 139 0.56 exonic rs1799865 CCR2 AU synonymous SNV NM_001123041 exon2 c.T780C p.N260N 0.328474 0.3185 0.327961 0.3192 0.3213 Uncertain 3_46415061_G->A 3 46415061 46415061 G A snp 2621.77 0/1 99 216 116 100 0.46 exonic rs1800452 CCR5 AU nonsynonymous SNV NM_000579 exon3 c.G668A p.R223Q 0.0119808 0.0565 0.001154 0.0050 0.0554 0.14 T 1 N -1.104 T 0.066 T 0.055 T CLINSIG=non-pathogenic;CLNDBN=CCR5_POLYMORPHISM\x2c_ORIENTAL_2;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000008668.1;CLNDSDB=.;CLNDSDBID=. Pathogenic 3_46449978_A->C 3 46449978 46449978 A C snp 2256.77 0/1 99 174 91 83 0.48 exonic rs11266744 CCRL2 AU synonymous SNV NM_003965 exon2 c.A408C p.G136G 0.33766 0.5605 0.296549 0.3794 0.5463 Uncertain 3_46450070_T->A 3 46450070 46450070 T A snp 3125.77 0/1 99 250 129 121 0.48 exonic rs3204849 CCRL2 AU nonsynonymous SNV NM_003965 exon2 c.T500A p.F167Y 0.348842 0.5615 0.308449 0.3800 0.5471 0 D 0.0 P -1.010 T 0.706 T 0.286 P ID=CM118818;DIS=AIDS & pneumocystis pneumonia, association with;TAG=DP;PUB=22046140 DP Pathogenic 3_46479668_A->G 3 46479668 46479668 A G snp 1910.77 1/1 99 59 0 59 1.0 intronic rs3213479 LTF AU NM_001199149 exon2 c.1935+48A>G 0.439896 0.621 0.355298 0.3990 0.5785 Uncertain 3_46480702_G->C 3 46480702 46480702 G C snp 1641.77 0/1 99 108 48 60 0.56 intronic rs2073493 LTF AU NM_001199149 exon3 c.3101-84G>C 0.15016 0.255 Uncertain 3_46480801_A->G 3 46480801 46480801 A G snp 3114.77 0/1 99 250 123 127 0.51 exonic rs9110 LTF AU synonymous SNV NM_002343 exon15 c.T1894C p.L632L 0.522564 0.6349 0.382977 0.3998 0.6587 ID=CM073189;DIS=Diarrhea in travellers, reduced risk, association with;TAG=DP;PUB=17342646 DP Uncertain 3_46480958_C->G 3 46480958 46480958 C G snp 1531.77 0/1 99 124 66 58 0.47 exonic rs2073495 LTF AU nonsynonymous SNV NM_002343 exon15 c.G1737C p.E579D 0.277157 0.3661 0.257804 0.3237 0.3427 0.38 T 0.0 P -0.981 T 0.0 T 0.005 T ID=CM051945;DIS=Secondary amyloidosis in the cornea, association with;TAG=DP;PUB=15923502 DP Pathogenic 3_46484898_T->G 3 46484898 46484898 T G snp 595.77 1/1 45 19 0 19 1.0 intronic rs7615975 LTF AU NM_001199149 exon5 c.7246-33T>G 0.919928 1 0.828435 0.8359 0.9994 Uncertain 3_46484964_G->A 3 46484964 46484964 G A snp 1582.77 1/1 99 57 0 57 1.0 exonic rs1042073 LTF AU synonymous SNV NM_002343 exon13 c.C1623T p.N541N 0.448882 0.6409 0.334744 0.3691 0.6774 Uncertain 3_46487003_A->G 3 46487003 46487003 A G snp 1961.77 1/1 99 61 0 61 1.0 intronic rs2269435 LTF AU NM_001199149 exon6 c.9242+76A>G 0.452276 0.6409 Uncertain 3_46487750_A->G 3 46487750 46487750 A G snp 535.77 1/1 42 15 0 15 1.0 intronic rs6776504 LTF AU NM_001199149 exon7 c.10245-180A>G 0.452476 0.6409 Uncertain 3_46489015_A->G 3 46489015 46489015 A G snp 651.77 0/1 99 62 34 28 0.45 intronic rs743659 LTF AU NM_001199149 exon8 c.11204+126A>G 0.417332 0.4841 Uncertain 3_46490250_A->G 3 46490250 46490250 A G snp 997.77 0/1 99 73 32 41 0.56 intronic rs1475967 LTF AU NM_001199149 exon9 c.12668-103A>G 0.615615 0.5813 Uncertain 3_46491290_G->A 3 46491290 46491290 G A snp 167.77 0/1 99 22 16 6 0.27 intronic rs2269443 LTF AU NM_001199149 exon10 c.13658-53G>A 0.182907 0.2798 Uncertain 3_46495727_A->- 3 46495727 46495727 A - indel 2130.73 0/1 99 149 84 65 0.44 intronic rs5848797 LTF AU NM_001199149 exon12 c.18109-67delA 0.264776 0.2798 0.225827 Uncertain 3_46500978_C->T 3 46500978 46500978 C T snp 31.77 0/1 60 9 7 2 0.22 intronic rs17078876 LTF AU NM_001199149 exon16 c.23460-167C>T 0.184105 0.2798 Uncertain 3_46501213_T->C 3 46501213 46501213 T C snp 1668.77 1/1 99 57 0 57 1.0 exonic rs1126478 LTF AU nonsynonymous SNV NM_002343 exon2 c.A140G p.K47R 0.627396 0.6498 0.500000 0.4371 0.6846 0.53 T 0.0 P -1.061 T 0.0 T 0.002 T ID=CM096382;DIS=Periodontitis, aggressive, association with;TAG=DFP;PUB=18973542 DFP Pathogenic 3_46501268_C->T 3 46501268 46501268 C T snp 586.77 0/1 99 41 17 24 0.59 exonic rs1126477 LTF AU nonsynonymous SNV NM_002343 exon2 c.G85A p.A29T 0.469649 0.4167 0.396817 0.3331 0.4298 1 T 0.000 P -0.982 T 0.017 T 0.01 T Pathogenic 3_46501284_-->CTT 3 46501284 46501284 - CTT indel 2065.73 1/1 99 36 0 36 1.0 exonic rs10662431 LTF AU nonframeshift insertion NM_002343 exon2 c.68_69insAAG p.R23delinsRR 0.990415 1 0.979556 0.9813 0.9998 Uncertain 3_46501842_G->C 3 46501842 46501842 G C snp 331.77 0/1 99 19 9 10 0.53 intronic rs4234463 LTF AU NM_001199149 exon16 c.23624+533G>C 0.590256 0.4812 Uncertain 3_46509712_A->G 3 46509712 46509712 A G snp 1410.77 0/1 99 90 38 52 0.58 intergenic rs72900270 LTF AU 0.172923 0.2103 0.0916 0.2071 Uncertain 3_46509933_A->G 3 46509933 46509933 A G snp 216.84 1/1 18 7 0 7 1.0 intergenic rs6441998 LTF AU 0.910543 0.9921 Uncertain 3_46539480_A->T 3 46539480 46539480 A T snp 59.77 0/1 88 13 9 4 0.31 upstream rs4683241 RTP3 AU 0.0541134 0.0377 Uncertain 3_46539864_C->T 3 46539864 46539864 C T snp 146.03 1/1 12 6 0 6 1.0 intronic rs11130092 RTP3 AU NM_031440 exon1 c.155+157C>T 0.746206 0.9534 Uncertain 3_46654132_G->A 3 46654132 46654132 G A snp 3996.77 1/1 99 138 0 138 1.0 UTR5 rs2139637 LOC100132146 AU 0.717452 0.8482 0.7534 0.8131 Uncertain 3_46658737_A->G 3 46658737 46658737 A G snp 6452.77 1/1 99 247 0 247 1.0 exonic rs9832679 LOC100132146 AU nonsynonymous SNV NM_001195442 exon2 c.A98G p.H33R 0.938099 1 0.9901 1 Pathogenic 3_46658872_G->T 3 46658872 46658872 G T snp 242.77 0/1 99 47 34 13 0.28 intronic rs9870935 LOC100132146 AU NM_001195442 exon2 c.4663+54G>T 0.713458 0.8065 Uncertain 3_46666521_T->C 3 46666521 46666521 T C snp 349.78 1/1 27 11 0 11 1.0 intronic rs9829227 LOC100132146 AU NM_001195442 exon3 c.12462-96T>C 0.147364 0.3175 Uncertain 3_46666793_G->A 3 46666793 46666793 G A snp 4817.77 1/1 99 177 0 177 1.0 UTR3 rs9810013 LOC100132146 AU 0.154553 0.3175 Uncertain 3_46713102_C->T 3 46713102 46713102 C T snp 1779.77 0/1 99 163 80 83 0.51 intronic rs6776565 ALS2CL AU NM_001190707 exon2 c.601+28C>T 0.308107 0.3571 0.280717 0.3333 0.3754 Uncertain 3_46713457_C->G 3 46713457 46713457 C G snp 2032.77 0/1 99 247 155 92 0.37 exonic rs7625303 ALS2CL AU synonymous SNV NM_182775 exon9 c.G642C p.T214T 0.250399 0.38 0.197678 0.2360 0.3689 Uncertain 3_46713475_G->A 3 46713475 46713475 G A snp 2000.77 0/1 99 250 155 95 0.38 exonic rs146368215 ALS2CL AU synonymous SNV NM_182775 exon9 c.C624T p.Y208Y 0.000199681 0.001 0.000077 9.891e-05 0.0002 Uncertain 3_46713764_G->A 3 46713764 46713764 G A snp 174.77 0/1 99 20 13 7 0.35 intronic rs61277784 ALS2CL AU NM_001190707 exon4 c.1218+73G>A 0.238219 0.3165 Uncertain 3_46714797_C->T 3 46714797 46714797 C T snp 346.77 0/1 99 38 24 14 0.37 intronic rs11130103 ALS2CL AU NM_001190707 exon5 c.2355-31C>T 0.305511 0.3571 0.251355 0.3334 0.3537 Uncertain 3_46714821_C->G 3 46714821 46714821 C G snp 799.77 0/1 99 69 37 32 0.46 intronic rs11130104 ALS2CL AU NM_001190707 exon5 c.2355-7C>G 0.305312 0.3571 0.257524 0.3548 0.3960 Uncertain 3_46715001_C->T 3 46715001 46715001 C T snp 941.77 0/1 99 81 42 39 0.48 intronic rs4682825 ALS2CL AU NM_001190707 exon5 c.2398+130C>T 0.259784 0.3085 Uncertain 3_46717065_C->G 3 46717065 46717065 C G snp 452.77 0/1 99 57 38 19 0.33 intronic rs7635360 ALS2CL AU NM_001190707 exon7 c.4634-42C>G 0.308307 0.3671 0.274412 0.3327 0.3871 Uncertain 3_46717931_T->C 3 46717931 46717931 T C snp 2651.77 1/1 99 87 0 87 1.0 intronic rs6808525 ALS2CL AU NM_001190707 exon8 c.5419+39T>C 0.782748 0.6974 0.771029 0.7711 0.7089 Uncertain 3_46717957_A->G 3 46717957 46717957 A G snp 1942.77 1/1 99 57 0 57 1.0 intronic rs9876451 ALS2CL AU NM_001190707 exon8 c.5419+65A>G 0.738219 0.6865 Uncertain 3_46718298_A->G 3 46718298 46718298 A G snp 3921.77 1/1 99 160 0 160 1.0 intronic rs6806400 ALS2CL AU NM_001190707 exon10 c.5865-40A>G 0.821286 0.6964 0.815931 0.7919 0.7015 Uncertain 3_46722692_G->T 3 46722692 46722692 G T snp 7108.77 1/1 99 250 0 250 1.0 intronic rs13080080 ALS2CL AU NM_001190707 exon14 c.10262-43G>T 0.648762 0.6419 0.638769 0.6697 0.6581 Uncertain 3_46723551_G->A 3 46723551 46723551 G A snp 2174.77 0/1 99 230 131 99 0.43 exonic rs4683310 ALS2CL AU synonymous SNV NM_001190707 exon11 c.C1143T p.H381H 0.313099 0.3383 0.341150 0.4006 0.3610 Uncertain 3_46723663_C->T 3 46723663 46723663 C T snp 1803.77 0/1 99 160 84 76 0.47 intronic rs4683311 ALS2CL AU NM_001190707 exon16 c.11111+79C>T 0.321685 0.3393 Uncertain 3_46723777_G->A 3 46723777 46723777 G A snp 194.77 0/1 96 11 4 7 0.64 intronic rs56069285 ALS2CL AU NM_001190707 exon16 c.11111+193G>A 0.310104 0.3056 Uncertain 3_46724548_C->T 3 46724548 46724548 C T snp 74.77 0/1 99 7 4 3 0.43 intronic rs9847395 ALS2CL AU NM_001190707 exon17 c.12146-71C>T 0.401158 0.3383 Uncertain 3_46724569_C->T 3 46724569 46724569 C T snp 123.77 0/1 99 12 5 7 0.58 intronic rs9847407 ALS2CL AU NM_001190707 exon17 c.12146-50C>T 0.310903 0.3343 0.339033 0.3996 0.3632 Uncertain 3_46725120_T->G 3 46725120 46725120 T G snp 54.74 1/1 6 2 0 2 1.0 intronic rs9868213 ALS2CL AU NM_001190707 exon18 c.12798-151T>G 0.773163 0.6597 Uncertain 3_46728659_G->A 3 46728659 46728659 G A snp 172.77 0/1 99 16 9 7 0.44 intronic rs7633016 ALS2CL AU NM_001190707 exon22 c.16165+21G>A 0.45647 0.3036 0.429430 0.4610 0.3766 Uncertain 3_46729757_C->G 3 46729757 46729757 C G snp 1176.77 0/1 99 80 38 42 0.53 exonic rs7642448 ALS2CL AU nonsynonymous SNV NM_001190707 exon3 c.G133C p.E45Q 0.448482 0.3046 0.421344 0.3641 0.2848 0.17 T 1.000 P -0.955 T 0.988 D 0.69 D Pathogenic 3_46730749_A->G 3 46730749 46730749 A G snp 1955.77 0/1 99 175 89 86 0.49 intronic rs4076927 ALS2CL AU NM_001190707 exon25 c.18354-78A>G 0.458866 0.3046 Uncertain 3_46747192_T->G 3 46747192 46747192 T G snp 71.77 0/1 99 6 3 3 0.5 intronic rs7649081 TMIE AR NM_147196 exon2 c.4302-87T>G 0.223842 0.2917 Uncertain 3_46747255_C->T 3 46747255 46747255 C T snp 820.77 0/1 99 50 23 27 0.54 intronic rs7635402 TMIE AR NM_147196 exon2 c.4302-24C>T 0.115016 0.1538 0.065817 0.0828 0.1517 Uncertain 3_46751074_AAG->- 3 46751074 46751076 AAG - indel 1099.73 0/1 99 70 41 29 0.41 exonic rs10578999 TMIE AR nonframeshift deletion NM_147196 exon4 c.367_369del p.123_123del 0.753195 0.6567 0.6205 0.5955 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_multiple_submitters\x2c_no_conflicts;CLNACC=RCV000041234.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 3_46753976_T->C 3 46753976 46753976 T C snp 1981.77 0/1 99 150 73 77 0.51 splicing rs9815362 PRSS50 AU NM_013270 exon1 c.237+4T>C 0.555711 0.494 0.524450 0.4806 0.5077 Pathogenic 3_46754286_C->A 3 46754286 46754286 C A snp 122.77 0/1 66 7 2 5 0.71 intronic rs58935080 PRSS50 AU NM_013270 exon2 c.655-104C>A 0.111422 0.1448 Uncertain 3_46755937_C->T 3 46755937 46755937 C T snp 1340.77 0/1 99 106 53 53 0.5 exonic rs12492868 PRSS50 AU synonymous SNV NM_013270 exon4 c.G525A p.T175T 0.383387 0.2708 0.291635 0.2773 0.2814 Uncertain 3_46759010_T->G 3 46759010 46759010 T G snp 1714.77 0/1 99 154 73 81 0.53 exonic rs34788938 PRSS50 AU nonsynonymous SNV NM_013270 exon2 c.A224C p.Q75P 0.310104 0.2619 0.222051 0.1701 0.2422 0.26 T 0.0 P -1.020 T 0.838 T 0.278 P Pathogenic 3_46761603_G->A 3 46761603 46761603 G A snp 115.77 0/1 97 9 3 6 0.67 intronic rs57987061 PRSS46 AU NM_001205271 exon1 c.5+110G>A 0.190895 0.1448 Uncertain 3_46775322_A->G 3 46775322 46775322 A G snp 771.77 0/1 99 49 16 33 0.67 exonic rs12489661 PRSS46 AU synonymous SNV NM_001205271 exon3 c.T324C p.T108T 0.20028 0.1528 0.2292 0.1683 Uncertain 3_46775383_A->G 3 46775383 46775383 A G snp 463.77 0/1 99 24 6 18 0.75 exonic rs12489663 PRSS46 AU nonsynonymous SNV NM_001205271 exon3 c.T263C p.F88S 0.256989 0.1528 0.2500 0.1735 0.43 T 0.0 P -1.005 T Pathogenic 3_46775410_G->A 3 46775410 46775410 G A snp 245.77 0/1 60 13 3 10 0.77 intronic rs12496832 PRSS46 AU NM_001205271 exon2 c.13897+25G>A 0.20008 0.1528 0.2400 0.1633 Uncertain 3_46775608_A->G 3 46775608 46775608 A G snp 594.77 0/1 99 57 30 27 0.47 exonic rs68175547 PRSS46 AU synonymous SNV NM_001205271 exon2 c.T207C p.S69S 0.256989 0.1528 0.2455 0.1759 Uncertain 3_46775766_A->G 3 46775766 46775766 A G snp 915.77 0/1 99 106 67 39 0.37 intronic rs56375912 PRSS46 AU NM_001205271 exon3 c.14244+34A>G 0.422724 0.2688 0.3288 0.2653 Uncertain 3_46777881_C->G 3 46777881 46777881 C G snp 1097.77 0/1 99 87 39 48 0.55 UTR5 rs6793535 PRSS46 AU 0.252396 0.123 0.2375 0.1263 Uncertain 3_46777885_T->C 3 46777885 46777885 T C snp 1062.77 0/1 99 88 40 48 0.55 UTR5 rs6808303 PRSS46 AU 0.252396 0.123 0.2377 0.1263 Uncertain 3_46778008_C->T 3 46778008 46778008 C T snp 604.77 0/1 99 45 21 24 0.53 upstream rs6793661 PRSS46 AU 0.251398 0.121 Uncertain 3_46851675_A->G 3 46851675 46851675 A G snp 1549.77 0/1 99 119 51 68 0.57 intergenic PRSS45 AU 0.14 T 1.000 N -1.016 T Uncertain 3_46873667_C->T 3 46873667 46873667 C T snp 549.77 0/1 99 50 31 19 0.38 intronic rs7624422 PRSS42 AU NM_182702 exon2 c.1633+141C>T 0.417332 0.252 Uncertain 3_46873718_G->C 3 46873718 46873718 G C snp 152.77 0/1 99 10 5 5 0.5 intronic rs7645877 PRSS42 AU NM_182702 exon2 c.1633+192G>C 0.315895 0.248 Uncertain 3_46900051_G->A 3 46900051 46900051 G A snp 60.77 0/1 89 9 6 3 0.33 intronic rs3729704 MYL3 AU NM_000258 exon3 c.218+100G>A 0.147165 0.1538 Uncertain 3_46902129_T->G 3 46902129 46902129 T G snp 350.77 0/1 99 27 13 14 0.52 intronic rs2227294 MYL3 AU NM_000258 exon5 c.2432-36T>G 0.462859 0.3869 0.339074 0.2595 0.3827 Uncertain 3_46904708_C->A 3 46904708 46904708 C A snp 450.77 0/1 99 41 23 18 0.44 intronic rs936175 MYL3 AU NM_000258 exon7 c.5018-43C>A 0.39397 0.2609 0.310395 0.2198 0.2306 Uncertain 3_46935527_G->T 3 46935527 46935527 G T snp 3674.77 1/1 99 123 0 123 1.0 intronic rs724450 PTH1R AR,AD NM_000316 exon4 c.10450+28G>T 0.28774 0.5546 0.157927 0.2345 0.5495 Uncertain 3_46940640_-->C 3 46940640 46940640 - C indel 2127.73 0/1 99 137 50 87 0.64 intronic rs555011284 PTH1R AR,AD NM_000316 exon10 c.15743-152insC 0.000399361 0.002 Uncertain 3_46982365_T->C 3 46982365 46982365 T C snp 873.77 1/1 63 33 0 33 1.0 intronic rs6804732 CCDC12 AU NM_144716 exon6 c.18941-122T>C 0.940096 1 Uncertain 3_46982737_T->C 3 46982737 46982737 T C snp 267.8 1/1 21 8 0 8 1.0 intronic rs4682844 CCDC12 AU NM_144716 exon6 c.19009+182T>C 0.368011 0.4841 Uncertain 3_47018214_T->C 3 47018214 47018214 T C snp 3637.77 1/1 99 129 0 129 1.0 exonic rs936181 CCDC12 AU synonymous SNV NM_001277074 exon1 c.A9G p.A3A 0.940296 1 0.935030 0.9832 0.9997 Uncertain 3_47029426_G->A 3 47029426 47029426 G A snp 736.77 1/1 54 25 0 25 1.0 intronic rs1108301 NBEAL2 AR NM_015175 exon2 c.8807-732G>A 0.411342 0.5327 Uncertain 3_47030378_C->T 3 47030378 47030378 C T snp 1964.77 0/1 99 152 75 77 0.51 exonic rs80105480 NBEAL2 AR synonymous SNV NM_015175 exon3 c.C187T p.L63L 0.00519169 0.0248 0.000078 0.0019 0.0250 Uncertain 3_47035625_G->A 3 47035625 47035625 G A snp 2655.77 1/1 99 77 0 77 1.0 intronic rs936185 NBEAL2 AR NM_015175 exon11 c.14159+115G>A 0.970048 1 Uncertain 3_47035735_T->G 3 47035735 47035735 T G snp 211.84 1/1 18 7 1 6 0.86 intronic rs749511 NBEAL2 AR NM_015175 exon12 c.14593-209T>G 0.327077 0.3373 Uncertain 3_47035900_C->T 3 47035900 47035900 C T snp 3299.77 1/1 99 125 0 125 1.0 intronic rs749512 NBEAL2 AR NM_015175 exon12 c.14593-44C>T 0.305911 0.3373 0.316185 0.3812 0.3704 Uncertain 3_47036756_C->G 3 47036756 47036756 C G snp 7261.77 1/1 99 250 0 250 1.0 exonic rs11720139 NBEAL2 AR nonsynonymous SNV NM_015175 exon13 c.C1531G p.R511G 0.316693 0.3383 0.311324 0.4381 0.4076 0.32 T 1.0 P -0.910 T 0.321 T 0.066 T Pathogenic 3_47038135_-->A 3 47038135 47038135 - A indel 4105.73 1/1 99 92 0 92 1.0 intronic rs11396344 NBEAL2 AR NM_015175 exon16 c.16731+53insA 0.95028 1 Uncertain 3_47040707_C->T 3 47040707 47040707 C T snp 1642.77 0/1 99 144 79 65 0.45 intronic rs74515346 NBEAL2 AR NM_015175 exon25 c.19453-97C>T 0.0551118 0.2331 Uncertain 3_47043622_G->A 3 47043622 47043622 G A snp 4864.77 1/1 99 171 0 171 1.0 exonic rs2305635 NBEAL2 AR synonymous SNV NM_015175 exon31 c.G4995A p.V1665V 0.320088 0.3373 0.331858 0.4236 0.3669 1.0 P -0.936 T Likely benign 3_47044122_A->T 3 47044122 47044122 A T snp 6047.77 1/1 99 222 0 222 1.0 intronic rs11928558 NBEAL2 AR NM_015175 exon33 c.22783-12A>T 0.949281 1 0.948859 0.9874 1 Uncertain 3_47147394_A->- 3 47147394 47147394 A - indel 64.73 0/1 99 43 18 25 0.58 intronic rs758962468 SETD2 AD NM_014159 exon16 c.88904-92delA 0.0249 0.0114 Uncertain 3_47277458_A->G 3 47277458 47277458 A G snp 381.77 1/1 30 12 0 12 1.0 ncRNA_intronic rs1874264 KIF9-AS1 AU 0.954073 1 Uncertain 3_47286227_G->T 3 47286227 47286227 G T snp 719.77 1/1 54 20 0 20 1.0 intronic rs6772449 KIF9 AU NM_182902 exon7 c.16139-53G>T 0.954073 1 Uncertain 3_47287603_-->T 3 47287603 47287603 - T indel 1507.73 1/1 99 34 0 34 1.0 intronic rs35871850 KIF9 AU NM_182902 exon9 c.17545-83insT 0.954073 1 Uncertain 3_47305929_TTTTA->- 3 47305929 47305933 TTTTA - indel 6157.73 1/1 99 92 0 92 1.0 intronic rs140345125 KIF9 AU NM_182902 exon13 c.35699+89_35699+93delTTTTA 0.3123 0.3373 Uncertain 3_47316725_G->A 3 47316725 47316725 G A snp 847.77 1/1 63 25 0 25 1.0 intronic rs903538 KIF9 AU NM_182902 exon19 c.46673-89G>A 0.951677 1 Uncertain 3_47318747_T->G 3 47318747 47318747 T G snp 5625.77 1/1 99 202 0 202 1.0 intronic rs924009 KIF9 AU NM_182902 exon20 c.48630-24T>G 0.960064 1 0.957789 0.9885 1 Uncertain 3_47361082_G->T 3 47361082 47361082 G T snp 902.77 1/1 66 26 0 26 1.0 intronic rs2302278 KLHL18 AU NM_025010 exon2 c.36687-60G>T 0.461062 0.4435 Uncertain 3_47363971_G->T 3 47363971 47363971 G T snp 187.9 1/1 15 8 0 8 1.0 intronic rs17410853 KLHL18 AU NM_025010 exon3 c.39602-86G>T 0.3127 0.3343 Uncertain 3_47376095_A->G 3 47376095 47376095 A G snp 1976.77 1/1 99 71 0 71 1.0 intronic rs295450 KLHL18 AU NM_025010 exon6 c.51717-77A>G 0.954273 1 Uncertain 3_47449019_C->T 3 47449019 47449019 C T snp 2927.77 0/1 99 250 141 109 0.44 exonic rs148428184 PTPN23 AU synonymous SNV NM_015466 exon12 c.C948T p.N316N 0.000154 0.0001 0 Uncertain 3_47449058_T->C 3 47449058 47449058 T C snp 6762.77 1/1 99 231 0 231 1.0 exonic rs900688 PTPN23 AU synonymous SNV NM_015466 exon12 c.T987C p.T329T 0.953874 1 0.949254 0.9863 1 Uncertain 3_47449296_G->A 3 47449296 47449296 G A snp 1419.77 0/1 99 141 78 63 0.45 exonic rs143729247 PTPN23 AU synonymous SNV NM_015466 exon13 c.G1113A p.L371L 0.00179712 0.006 0.000308 0.0034 0.0104 Uncertain 3_47449466_G->A 3 47449466 47449466 G A snp 237.77 0/1 99 40 26 14 0.35 intronic rs145862423 PTPN23 AU NM_015466 exon14 c.26859+21G>A 0.00179712 0.006 0.000308 0.0037 0.0116 Uncertain 3_47451411_C->T 3 47451411 47451411 C T snp 2110.77 1/1 99 78 0 78 1.0 intronic rs3736177 PTPN23 AU NM_015466 exon20 c.28831-6C>T 0.400559 0.5327 0.358968 0.4389 0.5401 Uncertain 3_47452087_G->A 3 47452087 47452087 G A snp 4395.77 1/1 99 152 0 152 1.0 exonic rs900689 PTPN23 AU synonymous SNV NM_015466 exon20 c.G2799A p.P933P 0.954872 1 0.951062 0.9867 1 Uncertain 3_47452118_G->A 3 47452118 47452118 G A snp 4428.77 1/1 99 166 0 166 1.0 exonic rs6780013 PTPN23 AU nonsynonymous SNV NM_015466 exon20 c.G2830A p.A944T 0.345248 0.4028 0.348147 0.3708 0.3804 0.63 T 0.0 P -0.972 T 0.0 T 0.0 T Pathogenic 3_47454131_C->T 3 47454131 47454131 C T snp 2076.77 0/1 99 207 117 90 0.43 intronic rs767559513 PTPN23 AU NM_015466 exon24 c.31531+14C>T 5.927e-05 0 Uncertain 3_47454399_G->A 3 47454399 47454399 G A snp 1193.77 ./1 99 71 0 71 1.0 exonic rs6789730 PTPN23 AU synonymous SNV NM_015466 exon25 c.G4635A p.P1545P 0.954673 1 0.954749 0.9872 0.9995 Uncertain 3_47454399_G->C 3 47454399 47454399 G C snp 1193.77 ./1 99 71 0 71 1.0 exonic rs6789730 PTPN23 AU synonymous SNV NM_015466 exon25 c.G4635C p.P1545P 0.00119808 0.0002 0.0004 Uncertain 3_47456225_T->C 3 47456225 47456225 T C snp 1572.77 1/1 99 53 0 53 1.0 intronic rs6442066 SCAP AU NM_012235 exon3 c.799+83T>C 0.979832 1 Uncertain 3_47459565_G->- 3 47459565 47459565 G - indel 146.87 1/1 15 5 0 5 1.0 intronic rs148152356 SCAP AU NM_012235 exon8 c.4280-58delG 0.403754 0.5238 Uncertain 3_47462200_T->C 3 47462200 47462200 T C snp 1339.77 1/1 96 50 0 50 1.0 exonic rs900690 SCAP AU synonymous SNV NM_012235 exon12 c.A1407G p.G469G 0.955072 1 0.950700 0.9867 1 Uncertain 3_47462587_A->G 3 47462587 47462587 A G snp 4900.77 1/1 99 164 0 164 1.0 intronic rs900691 SCAP AU NM_012235 exon13 c.7176+68A>G 0.975839 1 Uncertain 3_47539702_T->C 3 47539702 47539702 T C snp 3835.77 1/1 99 143 0 143 1.0 intronic rs12495169 ELP6 AU NM_001031703 exon2 c.2217-73T>C 0.230631 0.494 0.3364 0.5875 Uncertain 3_47539751_T->C 3 47539751 47539751 T C snp 4153.77 1/1 99 147 0 147 1.0 intronic rs2170814 ELP6 AU NM_001031703 exon2 c.2217-24T>C 0.957069 1 0.954004 0.9880 1 Uncertain 3_47555142_C->A 3 47555142 47555142 C A snp 3251.77 0/1 99 249 123 126 0.51 UTR5 rs2291298 ELP6 AU 0.517772 0.7024 0.501971 Uncertain 3_47604299_C->T 3 47604299 47604299 C T snp 264.8 1/1 21 7 0 7 1.0 intronic rs4858839 CSPG5 AU NM_001206942 exon1 c.162+48C>T 0.965655 1 0.955414 0.9884 1 Uncertain 3_47614413_G->A 3 47614413 47614413 G A snp 266.77 0/1 99 16 7 9 0.56 intronic rs2280567 CSPG5 AU NM_001206942 exon3 c.10275+49G>A 0.523163 0.5992 0.568814 0.5992 0.5972 Uncertain 3_47618953_C->A 3 47618953 47618953 C A snp 2281.77 0/1 99 183 92 91 0.5 exonic rs3732530 CSPG5 AU nonsynonymous SNV NM_001206942 exon2 c.G149T p.G50V 0.521166 0.5992 0.566200 0.5948 0.5957 0.24 T 0.986 P -0.980 T 0.028 T 0.012 T Pathogenic 3_47645933_A->T 3 47645933 47645933 A T snp 1291.77 0/1 99 99 46 53 0.54 intronic rs62262079 SMARCC1 AU NM_003074 exon3 c.21857-5622A>T 0.279553 0.4544 Uncertain 3_47680066_C->T 3 47680066 47680066 C T snp 1927.77 1/1 99 57 0 57 1.0 intronic rs12633923 SMARCC1 AU NM_003074 exon7 c.50516-148C>T 0.908946 1 Uncertain 3_47680119_T->C 3 47680119 47680119 T C snp 2029.77 0/1 99 151 65 86 0.57 intronic rs12636863 SMARCC1 AU NM_003074 exon7 c.50516-95T>C 0.5623 0.7063 Uncertain 3_47704222_G->T 3 47704222 47704222 G T snp 205.84 1/1 18 6 0 6 1.0 intronic rs9840859 SMARCC1 AU NM_003074 exon9 c.74384+140G>T 0.958267 1 Uncertain 3_47734700_A->G 3 47734700 47734700 A G snp 667.77 0/1 99 70 39 31 0.44 intronic rs12635438 SMARCC1 AU NM_003074 exon17 c.105032-30A>G 0.283546 0.2728 0.269799 0.3196 0.2682 Uncertain 3_47751998_T->C 3 47751998 47751998 T C snp 56.74 1/1 6 2 0 2 1.0 intronic rs2047558 SMARCC1 AU NM_003074 exon20 c.122474-174T>C 0.958267 1 Uncertain 3_47762030_A->G 3 47762030 47762030 A G snp 419.77 0/1 99 24 9 15 0.63 intronic rs12495204 SMARCC1 AU NM_003074 exon22 c.132457-125A>G 0.567492 0.7054 Uncertain 3_47770380_G->A 3 47770380 47770380 G A snp 74.77 0/1 99 9 5 4 0.44 intronic rs6442081 SMARCC1 AU NM_003074 exon23 c.140816-134G>A 0.578275 0.7054 Uncertain 3_47882727_C->T 3 47882727 47882727 C T snp 198.77 0/1 50 9 2 7 0.78 intronic rs17290490 DHX30 AU NM_138615 exon7 c.30495+59C>T 0.567692 0.7063 Uncertain 3_47889248_-->T 3 47889248 47889248 - T indel 781.73 0/1 99 38 16 22 0.58 intronic rs78902211 DHX30 AU NM_138615 exon14 c.37097-22insT 0.0652955 0.2688 0.001198 0.0265 0.2814 Uncertain 3_47894324_C->T 3 47894324 47894324 C T snp 664.77 0/1 99 50 23 27 0.54 UTR3 rs764241098 MAP4 AU 0.0001 0.0025 Uncertain 3_47894882_GAG->- 3 47894882 47894884 GAG - indel 379.73 0/1 99 30 19 11 0.37 intronic rs201347015 MAP4 AU NM_002375 exon2 c.321+40_321+42delGAG 0.147165 0.1875 0.171439 0.2298 0.1745 Uncertain 3_47953405_A->C 3 47953405 47953405 A C snp 3065.77 0/1 99 250 123 127 0.51 intronic rs4858871 MAP4 AU NM_001134364 exon11 c.62025-2901A>C 0.407548 0.2847 0.3811 0.2929 0.000 P -1.005 T Uncertain 3_47953733_C->A 3 47953733 47953733 C A snp 1645.77 0/1 99 151 84 67 0.44 intronic rs34025851 MAP4 AU NM_001134364 exon11 c.62025-2573C>A 0.28135 0.2847 0.3613 0.2929 1.000 P -0.881 T Uncertain 3_47956424_C->T 3 47956424 47956424 C T snp 3081.77 0/1 99 249 131 118 0.47 exonic rs1137524 MAP4 AU nonsynonymous SNV NM_002375 exon8 c.G1882A p.V628I 0.388778 0.2847 0.388205 0.3338 0.2847 0.22 T 0.0 P -0.956 T 0.49 P 0.038 P Pathogenic 3_47956506_T->C 3 47956506 47956506 T C snp 2548.77 0/1 99 222 112 110 0.5 intronic rs11707679 MAP4 AU NM_001134364 exon11 c.62148+77T>C 0.251797 0.2629 Uncertain 3_47958037_G->T 3 47958037 47958037 G T snp 1786.77 0/1 99 159 83 76 0.48 exonic rs1060407 MAP4 AU nonsynonymous SNV NM_002375 exon7 c.C1280A p.S427Y 0.251797 0.2629 0.249962 0.2897 0.2647 0 D 0.998 P -0.903 T 0.867 T 0.374 P Pathogenic 3_48019232_A->G 3 48019232 48019232 A G snp 411.77 0/1 99 38 21 17 0.45 intronic rs6770467 MAP4 AU NM_001134364 exon16 c.125073-122A>G 0.588658 0.7153 Uncertain 3_48019258_A->G 3 48019258 48019258 A G snp 816.77 0/1 99 81 45 36 0.44 intronic rs6770477 MAP4 AU NM_001134364 exon16 c.125073-96A>G 0.588658 0.7153 Uncertain 3_48029118_A->C 3 48029118 48029118 A C snp 96.28 1/1 9 3 0 3 1.0 intronic rs1013431 MAP4 AU NM_001134364 exon16 c.125142+9695A>C 0.61242 0.7153 Uncertain 3_48206102_G->A 3 48206102 48206102 G A snp 488.77 0/1 99 22 6 16 0.73 intronic rs3731555 CDC25A AU NM_001789 exon3 c.5493+175G>A 0.176917 0.124 Uncertain 3_48209486_C->T 3 48209486 48209486 C T snp 1941.77 1/1 99 76 0 76 1.0 intronic rs3731539 CDC25A AU NM_001789 exon6 c.9000+52C>T 0.974441 1 0.978823 0.9942 1 Uncertain 3_48219321_AC->- 3 48219321 48219322 AC - indel 7402.73 1/1 99 182 0 182 1.0 intronic rs3731514 CDC25A AU NM_001789 exon9 c.18909-22_18909-21delAC 0.914936 0.8621 0.8901 0.8375 Uncertain 3_48219537_A->G 3 48219537 48219537 A G snp 215.77 0/1 99 37 27 10 0.27 intronic rs3731513 CDC25A AU NM_001789 exon9 c.19044+59A>G 0.16873 0.121 Uncertain 3_48228060_A->- 3 48228060 48228060 A - indel 139.73 0/1 99 46 30 16 0.35 intronic rs750148404 CDC25A AU NM_001789 exon14 c.27758-132delA Uncertain 3_48282494_T->C 3 48282494 48282494 T C snp 920.77 0/1 99 72 35 37 0.51 upstream rs9830016 ZNF589 AU 0.236022 0.121 Uncertain 3_48282652_GCGC->- 3 48282652 48282655 GCGC - indel 7099.73 0/1 99 242 112 130 0.54 UTR5 rs35806621 ZNF589 AU 0.235423 0.121 0.309284 0.2630 0.1181 Uncertain 3_48282695_A->G 3 48282695 48282695 A G snp 2412.77 0/1 99 189 79 110 0.58 exonic rs9847953 ZNF589 AU nonsynonymous SNV NM_016089 exon1 c.A34G p.T12A 0.235423 0.121 0.295613 0.2666 0.1191 0.84 T 0.0 P -0.944 T 0.003 T 0.001 T Pathogenic 3_48299439_T->C 3 48299439 48299439 T C snp 1221.77 0/1 99 91 38 53 0.58 intronic rs6787500 ZNF589 AU NM_016089 exon3 c.19641-2863T>C 0.392572 0.2897 0.3959 0.2626 Uncertain 3_48309828_C->G 3 48309828 48309828 C G snp 1831.77 0/1 99 167 96 71 0.43 exonic rs11718329 ZNF589 AU nonsynonymous SNV NM_016089 exon4 c.C647G p.T216R 0.255791 0.124 0.312819 0.2685 0.1196 0.45 T 0.000 P -0.926 T 0.268 T 0.034 T Pathogenic 3_48327729_T->C 3 48327729 48327729 T C snp 1353.77 0/1 99 97 48 49 0.51 intergenic rs9853804 ZNF589 AU 0.222244 0.122 0.3069 0.1212 Uncertain 3_48327751_G->A 3 48327751 48327751 G A snp 1974.77 0/1 99 163 83 80 0.49 intergenic rs9834095 ZNF589 AU 0.222244 0.122 0.3056 0.1212 0 D 0.0 P -0.907 T 0.273 T 0.213 T Uncertain 3_48338173_C->T 3 48338173 48338173 C T snp 1434.77 0/1 99 146 86 60 0.41 intronic rs4479622 NME6 AU NM_005793 exon4 c.2090-43C>T 0.179513 0.123 0.231355 0.2415 0.1217 Uncertain 3_48339699_C->T 3 48339699 48339699 C T snp 71.77 0/1 99 8 4 4 0.5 intronic rs13084616 NME6 AU NM_005793 exon5 c.3790-217C>T 0.179513 0.123 Uncertain 3_48340045_C->T 3 48340045 48340045 C T snp 735.77 0/1 99 32 10 22 0.69 intronic rs13085251 NME6 AU NM_005793 exon5 c.3887+32C>T 0.179513 0.123 0.231124 0.2697 0.1437 Uncertain 3_48342669_C->T 3 48342669 48342669 C T snp 195.77 0/1 99 18 7 11 0.61 intronic rs34523942 NME6 AU NM_005793 exon6 c.6659-116C>T 0.228834 0.123 Uncertain 3_48342882_C->T 3 48342882 48342882 C T snp 426.77 0/1 99 38 17 21 0.55 upstream rs35297395 NME6 AU 0.179513 0.123 0.230162 Uncertain 3_48348564_A->C 3 48348564 48348564 A C snp 1827.77 0/1 99 139 59 80 0.58 intronic rs79089926 SPINK8 AU NM_001080525 exon1 c.12+71A>C 0.179513 0.123 0.219010 Uncertain 3_48360992_T->G 3 48360992 48360992 T G snp 1499.77 0/1 99 106 52 54 0.51 exonic rs11718350 SPINK8 AU nonsynonymous SNV NM_001080525 exon3 c.A234C p.K78N 0.16853 0.123 0.225881 0.2411 0.1214 0.43 T 0.000 P -1.083 T 0.818 T 0.305 P Pathogenic 3_48362369_A->T 3 48362369 48362369 A T snp 446.77 0/1 99 24 9 15 0.63 intronic rs7645425 SPINK8 AU NM_001080525 exon4 c.14033-145A>T 0.177516 0.123 Uncertain 3_48414043_G->C 3 48414043 48414043 G C snp 113.77 0/1 99 7 3 4 0.57 intronic FBXW12 AU NM_001159929 exon1 c.33+233G>C Uncertain 3_48414197_A->T 3 48414197 48414197 A T snp 2048.77 1/1 99 68 0 68 1.0 UTR5 rs9852211 FBXW12 AU 0.973243 1 Uncertain 3_48415007_C->G 3 48415007 48415007 C G snp 864.77 1/1 63 25 0 25 1.0 intronic rs4858793 FBXW12 AU NM_207102 exon4 c.780-30C>G 0.569489 0.6587 0.501768 0.5745 0.6594 Uncertain 3_48416756_A->G 3 48416756 48416756 A G snp 261.8 1/1 21 8 0 8 1.0 intronic rs4858817 FBXW12 AU NM_207102 exon5 c.2586-87A>G 0.578275 0.6587 Uncertain 3_48419897_C->T 3 48419897 48419897 C T snp 2707.77 1/1 99 98 0 98 1.0 exonic rs6442117 FBXW12 AU nonsynonymous SNV NM_001159929 exon5 c.C439T p.R147W 0.619409 0.6597 0.551822 0.5907 0.6604 0.03 T 0.0 P -0.944 T 0.616 T 0.011 P Pathogenic 3_48476431_C->G 3 48476431 48476431 C G snp 4847.77 1/1 99 158 0 158 1.0 exonic;splicing rs13062723 CCDC51;CCDC51 UN synonymous SNV NM_001256964 exon2 c.G108C p.L36L 0.98722 1 0.990448 0.9972 0.9999 Uncertain 3_48488192_G->C 3 48488192 48488192 G C snp 237.77 0/1 99 18 6 12 0.67 UTR5 rs72622933 ATRIP AU 0.133586 0.0585 Uncertain 3_48491350_G->A 3 48491350 48491350 G A snp 41.77 0/1 70 27 23 4 0.15 intronic rs370891653 ATRIP AU NM_130384 exon2 c.3193-92G>A Uncertain 3_48491996_T->- 3 48491996 48491996 T - indel 94.73 0/1 99 53 21 32 0.6 intronic ATRIP AU NM_130384 exon2 c.3327+420delT Uncertain 3_48505596_C->T 3 48505596 48505596 C T snp 332.77 0/1 99 33 20 13 0.39 intronic ATRIP AU NM_130384 exon10 c.17282+65C>T Uncertain 3_48515079_C->T 3 48515079 48515079 C T snp 521.77 1/1 39 15 0 15 1.0 intronic rs4858795 SHISA5 AU NM_001272083 exon3 c.4006+337C>T 0.529353 0.6607 Uncertain 3_48576483_C->G 3 48576483 48576483 C G snp 434.77 1/1 33 13 0 13 1.0 intronic rs7615170 PFKFB4 AU NM_004567 exon9 c.19507-203C>G 0.973842 0.999 Uncertain 3_48587408_A->C 3 48587408 48587408 A C snp 1430.77 0/1 99 116 58 58 0.5 ncRNA_exonic rs35452137 MIR6823 AU 0.0934505 0.0546 0.075811 0.1154 0.0441 Uncertain 3_48602523_-->GGC 3 48602523 48602523 - GGC indel 8397.73 1/1 99 139 0 139 1.0 intronic rs138595277 COL7A1 AR,AD,AU NM_000094 exon3 c.703-18insGGC 0.999401 1 0.9999 1 Uncertain 3_48624611_C->T 3 48624611 48624611 C T snp 1590.77 0/1 99 161 86 75 0.47 intronic rs2255532 COL7A1 AR,AD,AU NM_000094 exon96 c.22784-11C>T 0.430511 0.1865 0.475857 0.3573 0.1525 Uncertain 3_48625266_T->C 3 48625266 48625266 T C snp 1522.77 0/1 99 165 94 71 0.43 exonic rs1264194 COL7A1 AR,AD,AU synonymous SNV NM_000094 exon21 c.A2817G p.P939P 0.68111 0.3948 0.773643 0.6799 0.3799 Uncertain 3_48628014_G->A 3 48628014 48628014 G A snp 3166.77 0/1 99 249 133 116 0.47 exonic rs2228561 COL7A1 AR,AD,AU nonsynonymous SNV NM_000094 exon14 c.C1784T p.P595L 0.0990415 0.0357 0.102260 0.1192 0.0255 0.43 T 0.000 P -1.048 T 0.0 T 0.0 T Pathogenic 3_48630930_T->C 3 48630930 48630930 T C snp 2013.77 0/1 99 155 72 83 0.54 intronic rs181247235 COL7A1 AR,AD,AU NM_000094 exon116 c.29131-39T>C 0.000998403 0.004 0.000384 0.0003 0.0008 Uncertain 3_48658467_C->A 3 48658467 48658467 C A snp 663.77 0/1 99 39 16 23 0.59 intronic rs3895736 TMEM89 AU NM_001008269 exon1 c.186+7C>A 0.155351 0.0605 0.178456 0.1578 0.0458 Uncertain 3_48719638_T->C 3 48719638 48719638 T C snp 1928.77 1/1 99 62 0 62 1.0 intronic rs34577723 NCKIPSD AU NM_016453 exon10 c.7613+49T>C 0.730831 0.9484 0.595341 0.6987 0.9547 Uncertain 3_48723302_G->C 3 48723302 48723302 G C snp 1310.77 1/1 96 41 0 41 1.0 UTR5 rs6792510 NCKIPSD AU 0.754992 0.9504 Uncertain 3_48727112_G->A 3 48727112 48727112 G A snp 2840.77 1/1 99 105 0 105 1.0 exonic rs4858798 IP6K2 AU synonymous SNV NM_001005909 exon5 c.C639T p.Y213Y 0.73722 0.9484 0.596571 0.7050 0.9563 Uncertain 3_48731961_A->G 3 48731961 48731961 A G snp 566.77 0/1 99 61 34 27 0.44 splicing rs72929172 IP6K2 AU NM_001146179 exon2 c.62+3A>G 0.307907 0.7202 0.072054 0.2118 0.7022 Pathogenic 3_48731981_AAAT->- 3 48731981 48731984 AAAT - indel 1428.73 0/1 99 49 21 28 0.57 UTR3 rs574460998 IP6K2 AU 0.000798722 0.003 0.000166 0.0003 0.0035 Uncertain 3_48820357_T->A 3 48820357 48820357 T A snp 3147.77 0/1 99 231 105 126 0.55 intronic rs140319669 PRKAR2A AU NM_004157 exon7 c.31401-61T>A 0.000199681 0.001 Uncertain 3_48845251_C->T 3 48845251 48845251 C T snp 3641.77 1/1 99 128 0 128 1.0 intronic rs9311430 PRKAR2A AU NM_004157 exon10 c.56100+134C>T 0.753794 0.9474 Uncertain 3_48897078_A->G 3 48897078 48897078 A G snp 3068.77 1/1 99 105 0 105 1.0 intronic rs6414612 SLC25A20 AR NM_000387 exon4 c.1918+18A>G 0.995208 1 0.993311 0.9914 0.9971 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter|criteria_provided\x2c_single_submitter;CLNACC=RCV000078685.3|RCV000128072.1;CLNDSDB=MedGen|MedGen;CLNDSDBID=CN169374|CN221809 Uncertain 3_48964885_C->T 3 48964885 48964885 C T snp 48.74 1/1 6 3 1 2 0.67 intronic ARIH2 AU Uncertain 3_48964886_C->T 3 48964886 48964886 C T snp 40.74 1/1 6 3 0 3 1.0 intronic ARIH2 AU Uncertain 3_48964890_C->T 3 48964890 48964890 C T snp 30.74 1/1 6 3 1 2 0.67 splicing ARIH2 AU Pathogenic 3_48965278_C->T 3 48965278 48965278 C T snp 1093.77 0/1 99 120 70 50 0.42 intronic rs150911572 ARIH2 AU NM_006321 exon3 c.255+32C>T 0.00539137 0.0268 0.0025 0.0332 ID=COSN166884;OCCURENCE=2(haematopoietic_and_lymphoid_tissue) Uncertain 3_48982732_G->A 3 48982732 48982732 G A snp 180.9 1/1 15 5 0 5 1.0 intronic rs9864243 ARIH2 AU NM_006321 exon4 c.34053-16312G>A 0.901957 1 Uncertain 3_48986399_A->T 3 48986399 48986399 A T snp 5782.77 1/1 99 223 0 223 1.0 intronic rs13315711 ARIH2 AU NM_006321 exon4 c.34053-12645A>T 0.753594 0.9474 Uncertain 3_48986547_ATTTATTT->- 3 48986547 48986554 ATTTATTT - indel 1558.73 1/1 48 44 0 44 1.0 intronic rs371516194 ARIH2 AU NM_006321 exon4 c.34053-12497_34053-12490delATTTATTT 0.753994 0.9474 0.8119 0.9624 Uncertain 3_49004723_A->G 3 49004723 49004723 A G snp 3527.77 1/1 99 124 0 124 1.0 intronic rs6446196 ARIH2 AU NM_006321 exon6 c.39717+15A>G 0.772364 0.9514 0.638628 0.7230 0.9589 Uncertain 3_49044767_C->T 3 49044767 49044767 C T snp 1053.77 1/1 78 40 0 40 1.0 UTR5 rs6781790 WDR6 AU 0.754193 0.9484 0.614104 0.7619 0.9594 Uncertain 3_49052785_T->A 3 49052785 49052785 T A snp 424.77 1/1 33 12 0 12 1.0 UTR3 rs8926 WDR6 AU 0.75639 0.9484 Uncertain 3_49053219_A->G 3 49053219 49053219 A G snp 5775.77 1/1 99 195 0 195 1.0 UTR3 rs7100 WDR6 AU 0.905351 1 0.798401 0.8280 0.9999 Uncertain 3_49054692_T->C 3 49054692 49054692 T C snp 2755.77 1/1 99 102 0 102 1.0 exonic rs3087866 DALRD3 AU nonsynonymous SNV NM_001009996 exon5 c.A896G p.Q299R 0.904952 1 0.798401 0.8278 0.9999 0.86 T 0.0 P -0.955 T 0.0 T 0.0 T Pathogenic 3_49070499_C->T 3 49070499 49070499 C T snp 1446.77 1/1 99 57 0 57 1.0 intronic rs4974081 QRICH1 AU NM_017730 exon4 c.2668-53C>T 0.903355 1 Uncertain 3_49114544_C->T 3 49114544 49114544 C T snp 135.03 1/1 12 4 0 4 1.0 intronic rs7626445 QRICH1 AU NM_017730 exon9 c.46587+73C>T 0.750998 0.9474 Uncertain 3_49133310_A->G 3 49133310 49133310 A G snp 839.77 1/1 60 30 0 30 1.0 downstream rs9840050 QARS AR 0.754393 0.9474 Uncertain 3_49135961_C->G 3 49135961 49135961 C G snp 5754.77 1/1 99 221 0 221 1.0 intronic rs13064784 QARS AR NM_005051 exon4 c.2452+48C>G 0.748403 0.9474 0.615331 0.7161 0.9568 Uncertain 3_49137904_G->T 3 49137904 49137904 G T snp 7003.77 1/1 99 246 0 246 1.0 intronic rs4521268 QARS AR NM_005051 exon13 c.4430+13G>T 0.757987 0.9454 0.634015 0.7304 0.9571 Uncertain 3_49139966_G->A 3 49139966 49139966 G A snp 2833.77 1/1 99 96 0 96 1.0 intronic rs4513485 QARS AR NM_005051 exon19 c.6444+61G>A 0.728834 0.9474 0.590232 Uncertain 3_49145741_T->C 3 49145741 49145741 T C snp 1325.77 1/1 96 47 0 47 1.0 UTR3 rs3212 USP19 AU 0.759984 0.9474 Uncertain 3_49148890_T->C 3 49148890 49148890 T C snp 6906.77 1/1 99 250 0 250 1.0 intronic rs4292260 USP19 AU NM_001199161 exon7 c.3088-42T>C 0.83746 1 0.743728 0.8214 0.9998 Uncertain 3_49156676_A->G 3 49156676 49156676 A G snp 280.78 1/1 24 8 0 8 1.0 UTR5 rs4279134 USP19 AU 0.752995 0.9474 Uncertain 3_49166069_C->T 3 49166069 49166069 C T snp 4476.77 1/1 99 159 0 159 1.0 intronic rs9865051 LAMB2 AU,AR NM_002292 exon19 c.7435-24C>T 0.903355 1 0.804167 0.8349 0.9999 Uncertain 3_49200627_A->G 3 49200627 49200627 A G snp 8791.77 1/1 99 250 0 250 1.0 exonic rs4955418 CCDC71 AU nonsynonymous SNV NM_022903 exon2 c.T1015C p.W339R 0.74401 0.9435 0.596186 0.6978 0.9577 0.58 T 0.0 P -1.020 T 0.0 T 0.0 T Pathogenic 3_49200692_T->A 3 49200692 49200692 T A snp 8340.77 1/1 99 250 1 249 1.0 exonic rs4955419 CCDC71 AU nonsynonymous SNV NM_022903 exon2 c.A950T p.Q317L 0.710863 0.9395 0.565278 0.6890 0.9549 0.27 T 0.0 P -1.077 T 0.0 T 0.001 T Pathogenic 3_49210732_A->C 3 49210732 49210732 A C snp 56.74 1/1 6 2 0 2 1.0 intronic rs7617480 KLHDC8B AR NM_173546 exon2 c.376+154A>C 0.826078 0.9881 Uncertain 3_49211989_T->C 3 49211989 49211989 T C snp 502.77 1/1 39 13 0 13 1.0 intronic rs10865954 KLHDC8B AR NM_173546 exon3 c.1634+153T>C 0.721645 0.9405 Uncertain 3_49249381_A->G 3 49249381 49249381 A G snp 649.77 1/1 48 17 0 17 1.0 intronic rs9867285 CCDC36 AU NM_001135197 exon2 c.56+112A>G 0.8748 0.9881 Uncertain 3_49269758_G->T 3 49269758 49269758 G T snp 888.77 1/1 63 36 0 36 1.0 intronic rs2099526 CCDC36 AU NM_001135197 exon3 c.24767-4222G>T 0.805911 0.9881 Uncertain 3_49273996_C->T 3 49273996 49273996 C T snp 3569.77 1/1 99 114 0 114 1.0 exonic rs12631989 CCDC36 AU synonymous SNV NM_001135197 exon3 c.C72T p.S24S 0.705471 0.9415 0.560203 0.6877 0.9548 Uncertain 3_49298139_G->A 3 49298139 49298139 G A snp 4110.77 1/1 99 142 0 142 1.0 intergenic rs7626076 CCDC36 AU 0.875 0.9881 0.8521 1 0 D 0.0 P -1.020 T Uncertain 3_49298205_T->C 3 49298205 49298205 T C snp 4997.77 1/1 99 182 0 182 1.0 intergenic rs4955417 CCDC36 AU 0.791733 0.9851 0.8403 0.9950 0 D 0.0 P -1.004 T Uncertain 3_49336232_T->C 3 49336232 49336232 T C snp 96.28 1/1 9 3 0 3 1.0 intronic rs11720964 USP4 AU NM_199443 exon11 c.20343+164T>C 0.621006 0.9325 Uncertain 3_49354976_T->- 3 49354976 49354976 T - indel 84.94 0/1 13 18 2 16 0.89 intronic rs397989540 USP4 AU NM_001251877 exon1 c.247+4930delT 0.788339 0.9028 Uncertain 3_49365269_C->T 3 49365269 49365269 C T snp 1647.77 1/1 99 59 0 59 1.0 intronic rs6795772 USP4 AU NM_199443 exon19 c.49524+20C>T 0.663339 0.9296 0.506766 0.6302 0.9510 Uncertain 3_49395674_GCCGCC->- 3 49395674 49395679 GCCGCC - indel 1050.73 1/1 39 18 0 18 1.0 exonic rs17838762 GPX1 AR unknown 0.059048 0.0419 0.3846 ID=COSM446703;OCCURENCE=1(breast) Uncertain 3_49406080_T->C 3 49406080 49406080 T C snp 4512.77 1/1 99 160 0 160 1.0 intronic rs2878298 RHOA AU NM_001664 exon3 c.8340+99T>C 0.583067 0.9117 Uncertain 3_49457335_G->A 3 49457335 49457335 G A snp 31.77 0/1 60 7 5 2 0.29 intronic rs756300264 AMT AR NM_001164710 exon5 c.2249+114G>A Uncertain 3_49459114_A->C 3 49459114 49459114 A C snp 773.77 1/1 57 23 0 23 1.0 intronic rs4855873 AMT AR NM_001164710 exon6 c.4033+109A>C 0.582468 0.9117 Uncertain 3_49459376_T->C 3 49459376 49459376 T C snp 2848.77 1/1 99 95 0 95 1.0 intronic rs1464566 AMT AR NM_001164710 exon7 c.4564-160T>C 0.582668 0.9117 Uncertain 3_49463926_A->G 3 49463926 49463926 A G snp 2468.77 1/1 99 82 0 82 1.0 intronic rs6762593 NICN1 AU NM_032316 exon5 c.1596+65A>G 0.965855 1 Uncertain 3_49548008_C->G 3 49548008 49548008 C G snp 2744.77 1/1 99 90 0 90 1.0 exonic rs2131107 DAG1 AR nonsynonymous SNV NM_004393 exon2 c.C41G p.S14W 0.965855 1 0.973012 0.9923 1 1 T 0.000 P -0.946 T 0.0 T 0.0 T CLINSIG=untested;CLNDBN=not_provided;CLNREVSTAT=no_assertion_provided;CLNACC=RCV000024443.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Pathogenic 3_49548294_T->C 3 49548294 49548294 T C snp 3218.75 1/1 99 115 0 115 1.0 intronic rs2329024 DAG1 AR NM_001177635 exon3 c.285+42T>C 0.965855 1 0.973243 0.9925 1 CLINSIG=untested;CLNDBN=not_provided;CLNREVSTAT=no_assertion_provided;CLNACC=RCV000024444.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Uncertain 3_49568095_G->A 3 49568095 49568095 G A snp 252.8 1/1 21 7 0 7 1.0 intronic rs2311801 DAG1 AR NM_001177635 exon4 c.20262-134G>A 0.966054 1 CLINSIG=untested;CLNDBN=not_provided;CLNREVSTAT=no_assertion_provided;CLNACC=RCV000024445.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Uncertain 3_49570882_T->C 3 49570882 49570882 T C snp 2293.77 1/1 99 90 0 90 1.0 UTR3 rs1050088 DAG1 AR 0.554113 0.9117 0.5639 0.9461 CLINSIG=untested;CLNDBN=not_provided;CLNREVSTAT=no_assertion_provided;CLNACC=RCV000024448.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Uncertain 3_49690199_G->A 3 49690199 49690199 G A snp 5503.77 1/1 99 197 0 197 1.0 exonic rs4855885 BSN AU synonymous SNV NM_003458 exon5 c.G3210A p.T1070T 0.913538 0.9871 0.838997 0.8683 0.9953 Uncertain 3_49691363_C->T 3 49691363 49691363 C T snp 3576.77 0/1 99 250 116 134 0.54 exonic rs117032536 BSN AU synonymous SNV NM_003458 exon5 c.C4374T p.D1458D 0.00179712 0.0089 0.000154 0.0012 0.0132 Uncertain 3_49701298_G->A 3 49701298 49701298 G A snp 3685.77 1/1 99 125 0 125 1.0 exonic rs2005557 BSN AU nonsynonymous SNV NM_003458 exon8 c.G11587A p.A3863T 0.640375 0.9325 0.487929 0.5906 0.9464 1 T 0.0 P -0.951 T 0.0 T 0.0 T Pathogenic 3_49713753_T->C 3 49713753 49713753 T C snp 3616.77 1/1 99 108 0 108 1.0 intronic rs6778597 APEH AU NM_001640 exon7 c.1976-57T>C 0.994209 1 Uncertain 3_49720393_C->G 3 49720393 49720393 C G snp 7192.77 1/1 99 250 0 250 1.0 intronic rs2960548 APEH AU NM_001640 exon20 c.8544+15C>G 0.638978 0.9276 0.487698 0.5944 0.9441 Uncertain 3_49723141_A->G 3 49723141 49723141 A G snp 2086.77 0/1 99 170 83 87 0.51 exonic rs144982232 MST1 AU synonymous SNV NM_020998 exon11 c.T1275C p.H425H 0.00958466 0.0446 0.0042 0.0480 Uncertain 3_49723726_G->C 3 49723726 49723726 G C snp 53.77 0/1 82 42 22 20 0.48 intronic MST1 AU NM_020998 exon11 c.2285-19G>C 0.0227 0.0577 Uncertain 3_49723784_C->A 3 49723784 49723784 C A snp 1017.77 1/1 75 34 1 33 0.97 exonic rs9713651 MST1 AU synonymous SNV NM_020998 exon8 c.G978T p.P326P 0.378195 0.4369 0.6617 Uncertain 3_49724808_T->C 3 49724808 49724808 T C snp 6269.77 1/1 99 221 0 221 1.0 exonic rs3020779 MST1 AU synonymous SNV NM_020998 exon4 c.A459G p.P153P 0.860224 0.9871 0.787604 0.8574 0.9910 Uncertain 3_49725433_G->- 3 49725433 49725433 G - indel 217.8 1/1 18 6 0 6 1.0 intronic rs11309936 MST1 AU NM_020998 exon17 c.3870+103delG 0.605831 0.9236 Uncertain 3_49725908_G->C 3 49725908 49725908 G C snp 112.78 0/1 27 5 1 4 0.8 intronic rs76705346 MST1 AU NM_020998 exon18 c.4570-122G>C Uncertain 3_49725910_A->G 3 49725910 49725910 A G snp 145.78 0/1 24 6 1 5 0.83 intronic rs74982520 MST1 AU NM_020998 exon18 c.4570-120A>G Uncertain 3_49725948_C->T 3 49725948 49725948 C T snp 355.77 0/1 99 26 9 17 0.65 intronic rs141881740 MST1 AU NM_020998 exon18 c.4570-82C>T Uncertain 3_49726028_T->C 3 49726028 49726028 T C snp 516.77 0/1 99 79 42 37 0.47 splicing rs62262685 MST1 AU NM_020998 exon18 c.4570-2T>C 0.4498 0.4747 Pathogenic 3_49726070_G->A 3 49726070 49726070 G A snp 494.77 0/1 99 79 48 31 0.39 exonic rs62262686 MST1 AU nonsynonymous SNV NM_020998 exon1 c.C55T p.P19S 0.3968 0.4349 0.23 T 0.999 N -0.390 T 0.982 D 0.702 D CLINSIG=untested;CLNDBN=not_provided;CLNREVSTAT=no_assertion_provided;CLNACC=RCV000144227.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Pathogenic 3_49736565_G->A 3 49736565 49736565 G A snp 2180.77 1/1 99 74 0 74 1.0 intronic rs6785549 RNF123 AU NM_022064 exon10 c.7940+27G>A 0.584665 0.8323 0.477696 0.5825 0.8179 Uncertain 3_49739086_C->T 3 49739086 49739086 C T snp 2536.77 1/1 99 86 0 86 1.0 intronic rs1491986 RNF123 AU NM_022064 exon16 c.10443+45C>T 0.585463 0.8304 0.479625 0.5810 0.8173 Uncertain 3_49739507_G->C 3 49739507 49739507 G C snp 2756.77 1/1 99 101 0 101 1.0 intronic rs1491985 RNF123 AU NM_022064 exon18 c.10917-8G>C 0.848442 0.9871 0.775411 0.8533 0.9950 Uncertain 3_49744392_A->G 3 49744392 49744392 A G snp 3062.77 1/1 99 90 0 90 1.0 intronic rs3749241 RNF123 AU NM_022064 exon26 c.15733+61A>G 0.597244 0.8333 Uncertain 3_49750188_T->A 3 49750188 49750188 T A snp 2747.77 1/1 99 83 0 83 1.0 intronic rs3749240 RNF123 AU NM_022064 exon27 c.21491+99T>A 0.597045 0.8333 0.5919 0.8187 Uncertain 3_49753003_T->G 3 49753003 49753003 T G snp 2880.77 1/1 99 92 0 92 1.0 splicing rs34614773 RNF123 AU NM_022064 exon32 c.24409-4T>G 0.584864 0.8304 0.479625 0.5807 0.8174 Pathogenic 3_49753788_A->G 3 49753788 49753788 A G snp 3123.77 1/1 99 106 0 106 1.0 intronic rs11720705 RNF123 AU NM_022064 exon35 c.25227-37A>G 0.850839 0.9871 0.776565 0.8531 0.9953 Uncertain 3_49760039_T->C 3 49760039 49760039 T C snp 7302.77 1/1 99 249 0 249 1.0 exonic rs1466685 GMPPB AR nonsynonymous SNV NM_021971 exon5 c.A551G p.Q184R 0.989018 1 0.989159 0.9967 0.9999 0.08 T 0.000 P -0.902 T 0.0 T 0.001 T Pathogenic 3_49785133_G->A 3 49785133 49785133 G A snp 261.8 1/1 21 7 0 7 1.0 intronic rs7374183 IP6K1 AU NM_153273 exon5 c.20696-117G>A 0.58766 0.8393 Uncertain 3_49847938_G->C 3 49847938 49847938 G C snp 3201.82 0/1 99 238 106 132 0.55 intronic rs117326576 UBA7 AU NM_003335 exon13 c.5209-11G>C 0.000798722 0.004 0.0001 0.0021 Uncertain 3_49928691_T->C 3 49928691 49928691 T C snp 4045.77 1/1 99 145 0 145 1.0 exonic rs7433231 MST1R AD nonsynonymous SNV NM_002447 exon17 c.A3583G p.S1195G 1 1 1.0000 1 1 T 0.003 P -0.948 T 0.0 T 0.0 T Pathogenic 3_50097319_C->A 3 50097319 50097319 C A snp 93.28 1/1 9 3 0 3 1.0 intronic rs2245365 RBM6 AU NM_001167582 exon7 c.11493+140C>A 0.588858 0.8562 Uncertain 3_50114515_C->T 3 50114515 50114515 C T snp 743.77 1/1 54 25 0 25 1.0 exonic rs7061 RBM6 AU synonymous SNV NM_001167582 exon17 c.C1755T p.Y585Y 0.747005 0.879 0.621175 0.6715 0.8839 Uncertain 3_50129374_-->A 3 50129374 50129374 - A indel 1326.73 1/1 90 30 0 30 1.0 intronic rs5848907 RBM5 AU NM_005778 exon3 c.1608-101insA 0.996805 1 Uncertain 3_50129399_C->T 3 50129399 50129399 C T snp 1574.77 1/1 99 51 0 51 1.0 intronic rs2013208 RBM5 AU NM_005778 exon3 c.1608-76C>T 0.673123 0.8562 0.6186 0.8550 Uncertain 3_50142667_C->T 3 50142667 50142667 C T snp 435.77 0/1 99 40 23 17 0.42 intronic RBM5 AU NM_005778 exon9 c.14708+92C>T Uncertain 3_50144386_A->G 3 50144386 50144386 A G snp 2668.77 0/1 99 213 109 104 0.49 intronic rs3733132 RBM5 AU NM_005778 exon11 c.16430+89A>G 0.00958466 0.0317 Uncertain 3_50144951_T->C 3 50144951 50144951 T C snp 4761.77 1/1 99 177 0 177 1.0 exonic rs1061474 RBM5 AU synonymous SNV NM_005778 exon12 c.T990C p.A330A 0.747404 0.881 0.620944 0.6715 0.8847 Uncertain 3_50148305_C->G 3 50148305 50148305 C G snp 309.78 1/1 24 9 0 9 1.0 intronic rs2301166 RBM5 AU NM_005778 exon17 c.20336+102C>G 0.632987 0.8571 Uncertain 3_50153356_T->C 3 50153356 50153356 T C snp 5266.77 1/1 99 192 0 192 1.0 exonic rs1138536 RBM5 AU synonymous SNV NM_005778 exon22 c.T2037C p.Y679Y 0.747404 0.8819 0.621252 0.6718 0.8847 Uncertain 3_50197092_C->T 3 50197092 50197092 C T snp 2620.77 0/1 99 236 123 113 0.48 exonic rs2072053 SEMA3F AU synonymous SNV NM_004186 exon2 c.C37T p.L13L 0.16853 0.626 0.006689 0.0937 0.6074 Uncertain 3_50197097_C->T 3 50197097 50197097 C T snp 2776.77 0/1 99 250 120 130 0.52 exonic rs1046953 SEMA3F AU synonymous SNV NM_004186 exon2 c.C42T p.T14T 0.3752 0.1915 0.382977 0.4228 0.1931 Uncertain 3_50222926_T->A 3 50222926 50222926 T A snp 2056.77 1/1 99 77 0 77 1.0 exonic rs1046956 SEMA3F AU nonsynonymous SNV NM_004186 exon14 c.T1507A p.L503M 0.765974 0.9871 0.633784 0.7380 0.9944 1 T 0.000 P -0.968 T 0.013 T 0.012 T Pathogenic 3_50223593_T->A 3 50223593 50223593 T A snp 1055.77 0/1 99 78 34 44 0.56 intronic rs2073726 SEMA3F AU NM_004186 exon16 c.26424+114T>A 0.402157 0.2292 Uncertain 3_50223977_C->T 3 50223977 50223977 C T snp 1045.77 0/1 99 68 32 36 0.53 intronic rs11717349 SEMA3F AU NM_004186 exon18 c.26990-68C>T 0.401957 0.2292 Uncertain 3_50224225_A->G 3 50224225 50224225 A G snp 1015.77 0/1 99 80 44 36 0.45 intronic rs12632110 SEMA3F AU NM_004186 exon18 c.27124+46A>G 0.595647 0.3671 0.621748 0.6563 0.4243 Uncertain 3_50224374_T->C 3 50224374 50224374 T C snp 122.77 0/1 64 6 2 4 0.67 intronic rs4688746 SEMA3F AU NM_004186 exon18 c.27124+195T>C 0.166933 0.62 Uncertain 3_50225029_A->G 3 50225029 50225029 A G snp 1291.77 0/1 99 108 56 52 0.48 intronic rs11711407 SEMA3F AU NM_004186 exon19 c.28082-108A>G 0.40595 0.2312 Uncertain 3_50231827_C->T 3 50231827 50231827 C T snp 156.78 0/1 24 6 1 5 0.83 intronic rs12721544 GNAT1 AR,AD NM_144499 exon7 c.2775-106C>T 0.166334 0.6181 Uncertain 3_50251833_-->G 3 50251833 50251833 - G indel 6094.73 1/1 99 158 0 158 1.0 splicing rs397812056 SLC38A3 AU NM_006841 exon3 c.201insG 0.9998 1 0.999832 1.0000 1 Pathogenic 3_50284377_-->A 3 50284377 50284377 - A indel 1081.73 0/1 99 51 21 30 0.59 intronic GNAI2 AU,AD NM_002070 exon2 c.15764-5154insA 0.166733 0.6181 Uncertain 3_50294551_A->G 3 50294551 50294551 A G snp 875.77 0/1 99 67 33 34 0.51 intronic GNAI2 AU,AD NM_001166425 exon7 c.10022+29A>G 0.345048 0.6181 0.191604 0.1656 0.5985 Uncertain 3_50296329_G->- 3 50296329 50296329 G - indel 385.73 0/1 99 26 13 13 0.5 UTR3 GNAI2 AU,AD 0.166334 0.6161 0.0148 0.4438 Uncertain 3_50306752_-->C 3 50306752 50306752 - C indel 1347.73 1/1 99 43 0 43 1.0 exonic rs67324803 SEMA3B AU unknown 1 1 0.993184 1 1 ID=COSM1424139;OCCURENCE=1(large_intestine) Uncertain 3_50307950_G->A 3 50307950 50307950 G A snp 1051.77 0/1 99 71 26 45 0.63 intronic SEMA3B AU NM_004636 exon4 c.1254+24G>A 0.17512 0.62 0.015835 0.0951 0.5979 Uncertain 3_50308718_A->G 3 50308718 50308718 A G snp 1513.77 1/1 99 48 0 48 1.0 intronic SEMA3B AU NM_004636 exon7 c.2119-73A>G 0.96885 1 Uncertain 3_50311900_C->T 3 50311900 50311900 C T snp 3718.77 0/1 99 250 106 144 0.58 exonic SEMA3B AU nonsynonymous SNV NM_001290062 exon5 c.C215T p.T72I 0.217053 0.6181 0.057533 0.1145 0.6005 1 T -0.909 T 0.0 T 0.0 T Pathogenic 3_50324672_T->G 3 50324672 50324672 T G snp 534.77 0/1 99 40 19 21 0.53 UTR3 rs12629572 LSMEM2 AU 0.303714 0.6905 0.131862 0.2065 0.6662 Uncertain 3_50326020_G->A 3 50326020 50326020 G A snp 2745.77 0/1 99 249 135 114 0.46 exonic rs2229647 IFRD2 AU synonymous SNV NM_006764 exon10 c.C1338T p.H446H 0.204073 0.619 0.041399 0.1014 0.5991 Uncertain 3_50327429_A->G 3 50327429 50327429 A G snp 2145.77 0/1 99 150 72 78 0.52 exonic rs2071205 IFRD2 AU synonymous SNV NM_006764 exon5 c.T669C p.F223F 0.217652 0.62 0.057831 0.1083 0.6013 Uncertain 3_50329826_A->G 3 50329826 50329826 A G snp 2175.77 0/1 99 189 92 97 0.51 exonic rs1076872 IFRD2 AU synonymous SNV NM_006764 exon1 c.T72C p.R24R 0.771965 0.7817 0.772092 0.7203 0.7889 Uncertain 3_50330987_T->C 3 50330987 50330987 T C snp 1834.77 0/1 99 130 58 72 0.55 intronic rs2071204 HYAL3 AU NM_001200032 exon1 c.270+41T>C 0.217652 0.62 0.062125 0.1071 0.6014 Uncertain 3_50334231_T->A 3 50334231 50334231 T A snp 615.77 0/1 99 51 28 23 0.45 exonic rs2269432 NAT6 AU nonsynonymous SNV NM_001200016 exon2 c.A664T p.R222W 0.217652 0.619 0.056642 0.1145 0.6018 0.21 T 0.0 P -0.921 T 0.0 T 0.001 T Pathogenic 3_50336661_T->C 3 50336661 50336661 T C snp 1366.77 0/1 99 126 69 57 0.45 UTR5 HYAL3 AU 0.217452 0.619 0.061764 0.1067 0.6000 Uncertain 3_50355730_T->G 3 50355730 50355730 T G snp 2135.77 0/1 99 213 123 90 0.42 exonic HYAL2 AU nonsynonymous SNV NM_003773 exon4 c.A1252C p.I418L 0.217851 0.619 0.062586 0.1076 0.6012 1 T 0.0 P -0.953 T 0.0 T 0.0 T Pathogenic 3_50357869_A->C 3 50357869 50357869 A C snp 836.77 0/1 99 68 34 34 0.5 exonic HYAL2 AU nonsynonymous SNV NM_003773 exon2 c.T52G p.S18A 0.736022 0.7917 0.725146 0.6796 0.7665 1 T 0.000 P -0.950 T 0.0 T 0.0 T Pathogenic 3_50363771_G->A 3 50363771 50363771 G A snp 465.77 0/1 99 52 30 22 0.42 intronic TUSC2 AU NM_007275 exon2 c.236-16G>A 0.208267 0.619 0.049285 0.1030 0.5997 Uncertain 3_50374568_T->C 3 50374568 50374568 T C snp 659.77 0/1 99 57 33 24 0.42 intronic rs57838764 RASSF1 AR NM_170713 exon5 c.6592-35T>C 0.315096 0.6875 0.139648 0.2996 0.6918 Uncertain 3_50375606_-->C 3 50375606 50375606 - C indel 135.73 0/1 99 10 5 5 0.5 ncRNA_exonic rs3840490 RASSF1-AS1 AU 0.315296 0.6875 Uncertain 3_50378176_T->G 3 50378176 50378176 T G snp 1268.77 0/1 99 78 35 43 0.55 exonic rs4688725 RASSF1 AR nonsynonymous SNV NM_007182 exon1 c.A61C p.K21Q 0.234625 0.62 0.042287 0.0602 0.6290 0.61 T 0.0 P -0.923 T 0.0 T 0.0 T Pathogenic 3_50378946_A->G 3 50378946 50378946 A G snp 2878.77 0/1 99 250 132 118 0.47 intronic rs1989839 ZMYND10 AR NM_015896 exon1 c.76+30A>G 0.310104 0.6875 0.155620 0.2090 0.6667 Uncertain 3_50384978_C->- 3 50384978 50384978 C - indel 1009.73 0/1 99 91 61 30 0.33 UTR3 rs34963734 NPRL2 AU 0.203874 0.6181 0.043683 Uncertain 3_50387510_A->C 3 50387510 50387510 A C snp 156.78 0/1 24 7 1 6 0.86 intronic rs2073500 NPRL2 AU NM_006545 exon10 c.2417+57A>C 0.166534 0.62 Uncertain 3_50415642_A->C 3 50415642 50415642 A C snp 1363.77 0/1 99 109 57 52 0.48 intronic rs12485286 CACNA2D2 AU NM_006030 exon25 c.13618-72A>C 0.202676 0.623 0.043145 Uncertain 3_50425177_C->A 3 50425177 50425177 C A snp 387.77 0/1 99 40 20 20 0.5 intronic rs2236954 CACNA2D2 AU NM_006030 exon34 c.22947+134C>A 0.36262 0.4871 Uncertain 3_50431410_C->G 3 50431410 50431410 C G snp 295.77 0/1 99 21 11 10 0.48 intronic rs734767 CACNA2D2 AU NM_006030 exon35 c.29443-129C>G 0.364417 0.4911 Uncertain 3_50597092_G->A 3 50597092 50597092 G A snp 6940.77 1/1 99 245 0 245 1.0 exonic rs1034405 C3orf18 AU nonsynonymous SNV NM_001171740 exon5 c.C485T p.A162V 0.832668 0.9365 0.811056 0.8753 0.9301 0 D 1.000 P -1.053 T 1.0 D 0.998 D Pathogenic 3_50597306_G->- 3 50597306 50597306 G - indel 256.77 0/1 21 8 1 7 0.88 intronic rs60245666 C3orf18 AU NM_016210 exon1 c.81+138delG 0.106629 0.3442 Uncertain 3_50608480_C->T 3 50608480 50608480 C T snp 31.77 0/1 60 9 7 2 0.22 UTR5 rs2227292 HEMK1 AU 0.106829 0.3452 Uncertain 3_50609123_T->C 3 50609123 50609123 T C snp 4307.77 1/1 99 148 0 148 1.0 intronic rs636168 HEMK1 AU NM_016173 exon3 c.605-17T>C 0.955671 1 0.953252 0.9872 1 Uncertain 3_50609624_T->G 3 50609624 50609624 T G snp 1074.77 0/1 99 108 59 49 0.45 exonic rs2232248 HEMK1 AU synonymous SNV NM_016173 exon4 c.T399G p.P133P 0.75619 0.5913 0.828541 0.8070 0.6033 Uncertain 3_50616049_G->A 3 50616049 50616049 G A snp 139.03 1/1 12 5 0 5 1.0 intronic rs1208923 HEMK1 AU NM_016173 exon8 c.7716-202G>A 0.955471 1 Uncertain 3_50617422_C->T 3 50617422 50617422 C T snp 1969.77 0/1 99 191 109 82 0.43 intronic rs762889 HEMK1 AU NM_016173 exon9 c.8835+52C>T 0.107428 0.3442 0.005638 0.0664 0.3332 Uncertain 3_50645158_A->G 3 50645158 50645158 A G snp 1622.77 0/1 99 132 61 71 0.54 exonic rs2239753 CISH AU synonymous SNV NM_013324 exon4 c.T708C p.S236S 0.144569 0.3442 0.046209 0.0823 0.3320 Uncertain 3_50645413_G->A 3 50645413 50645413 G A snp 2748.77 0/1 99 235 122 113 0.48 exonic rs2239752 CISH AU synonymous SNV NM_013324 exon4 c.C453T p.A151A 0.141973 0.3433 0.042826 0.0813 0.3320 Uncertain 3_50645635_T->G 3 50645635 50645635 T G snp 4832.77 1/1 99 169 0 169 1.0 intronic rs621975 CISH AU NM_013324 exon1 c.536+62T>G 0.945288 1 Uncertain 3_50645793_C->G 3 50645793 50645793 C G snp 2184.77 0/1 99 165 75 90 0.55 intronic rs622502 CISH AU NM_013324 exon2 c.766-10C>G 0.861022 0.9345 0.842996 0.8842 0.9298 Uncertain 3_50647888_T->G 3 50647888 50647888 T G snp 427.77 0/1 99 47 26 21 0.45 UTR5 rs2239751 CISH AU 0.145367 0.3442 0.040955 0.0377 0.3328 Uncertain 3_50678001_C->T 3 50678001 50678001 C T snp 393.77 1/1 30 13 0 13 1.0 intronic rs608961 MAPKAPK3 AU NM_004635 exon3 c.22940+65C>T 0.978634 1 Uncertain 3_50679244_G->A 3 50679244 50679244 G A snp 977.77 0/1 99 81 38 43 0.53 intronic rs6791880 MAPKAPK3 AU NM_004635 exon4 c.24206+42G>A 0.066893 0.0516 0.092419 0.0972 0.0595 Uncertain 3_50683809_T->C 3 50683809 50683809 T C snp 653.77 0/1 99 55 24 31 0.56 intronic rs876105 MAPKAPK3 AU NM_004635 exon8 c.28699+114T>C 0.78734 0.6538 Uncertain 3_50684011_G->A 3 50684011 50684011 G A snp 94.77 0/1 99 9 5 4 0.44 intronic rs876103 MAPKAPK3 AU NM_004635 exon9 c.29174-159G>A 0.787141 0.6528 Uncertain 3_50684489_A->G 3 50684489 50684489 A G snp 2170.77 1/1 99 78 0 78 1.0 intronic rs4468971 MAPKAPK3 AU NM_004635 exon10 c.29557-64A>G 0.997804 1 Uncertain 3_50900974_C->T 3 50900974 50900974 C T snp 1225.77 0/1 99 102 50 52 0.51 intronic rs2675825 DOCK3 AU NM_004947 exon3 c.166452+21828C>T 0.0698882 0.0526 Uncertain 3_50927540_G->T 3 50927540 50927540 G T snp 525.77 0/1 99 79 54 25 0.32 intronic rs13088434 DOCK3 AU NM_004947 exon4 c.214818+28G>T 0.0670927 0.0526 0.0856 0.0572 Uncertain 3_50939067_C->T 3 50939067 50939067 C T snp 154.77 0/1 99 17 9 8 0.47 intronic rs13097480 DOCK3 AU NM_004947 exon4 c.214818+11555C>T 0.0670927 0.0526 0.0776 0.0746 Uncertain 3_50971594_G->A 3 50971594 50971594 G A snp 432.77 0/1 99 29 16 13 0.45 intronic rs78601534 DOCK3 AU NM_004947 exon5 c.258814+86G>A 0.0131789 0.0645 Uncertain 3_51246360_A->G 3 51246360 51246360 A G snp 553.77 0/1 99 81 57 24 0.3 intronic rs4301044 DOCK3 AU NM_004947 exon13 c.533599+67A>G 0.931909 0.9325 Uncertain 3_51266750_C->T 3 51266750 51266750 C T snp 54.74 1/1 6 2 0 2 1.0 intronic rs3762711 DOCK3 AU NM_004947 exon19 c.554248-192C>T 0.138578 0.3333 Uncertain 3_51273773_T->C 3 51273773 51273773 T C snp 5820.77 1/1 99 228 0 228 1.0 splicing rs1480361 DOCK3 AU NM_004947 exon20 c.561081-2T>C 0.996406 1 0.991306 0.9908 1 Pathogenic 3_51349887_C->A 3 51349887 51349887 C A snp 1765.77 0/1 99 122 50 72 0.59 intronic rs2170177 DOCK3 AU NM_004947 exon30 c.637212-19C>A 0.139976 0.3333 0.040531 0.0889 0.3303 Uncertain 3_51393457_C->T 3 51393457 51393457 C T snp 215.77 0/1 99 17 10 7 0.41 intronic rs2306431 DOCK3 AU NM_004947 exon42 c.680825-62C>T 0.141773 0.3562 Uncertain 3_51393706_-->AG 3 51393706 51393706 - AG indel 4091.73 1/1 99 76 0 76 1.0 intronic rs35251332 DOCK3 AU NM_004947 exon42 c.680992+20insAG 0.988618 0.999 0.978923 0.9792 1 Uncertain 3_51394259_G->C 3 51394259 51394259 G C snp 122.77 0/1 66 6 2 4 0.67 intronic rs2306430 DOCK3 AU NM_004947 exon44 c.681698-133G>C 0.147963 0.3571 Uncertain 3_51395571_C->T 3 51395571 51395571 C T snp 172.77 0/1 99 16 10 6 0.38 intronic rs1542574 DOCK3 AU NM_004947 exon46 c.682814+63C>T 0.812101 0.9405 Uncertain 3_51399934_CTG->- 3 51399934 51399936 CTG - indel 4756.73 0/1 99 194 99 95 0.49 intronic rs3830230 DOCK3 AU NM_004947 exon49 c.687263-23_687263-21delCTG 0.147764 0.3562 0.040589 0.0867 0.3358 Uncertain 3_51411797_T->C 3 51411797 51411797 T C snp 1002.77 0/1 99 74 37 37 0.5 intronic rs3828395 DOCK3 AU NM_004947 exon50 c.699205-102T>C 0.1875 0.3532 Uncertain 3_51422766_G->T 3 51422766 51422766 G T snp 583.77 0/1 99 32 8 24 0.75 exonic MANF AU nonsynonymous SNV NM_006010 exon1 c.G2T p.R1M 0.929082 0.7119 0.8889 0 D 0.000 P -1.067 T Pathogenic 3_51422904_C->G 3 51422904 51422904 C G snp 35.77 0/1 64 8 5 3 0.38 intronic MANF AU NM_006010 exon1 c.103+37C>G 0.175519 0.3512 0.0676 . Uncertain 3_51425481_T->C 3 51425481 51425481 T C snp 295.77 0/1 99 19 9 10 0.53 intronic MANF AU NM_006010 exon3 c.2545+172T>C 0.147364 0.3512 Uncertain 3_51426316_C->A 3 51426316 51426316 C A snp 256.77 0/1 99 26 14 12 0.46 intronic MANF AU NM_006010 exon4 c.3571-19C>A 0.146965 0.3522 0.041355 0.0959 0.4396 Uncertain 3_51428887_C->G 3 51428887 51428887 C G snp 375.77 0/1 46 19 2 17 0.89 exonic RBM15B AU synonymous SNV NM_013286 exon1 c.C57G p.S19S 0.187101 0.3552 0.0939 0.4028 Uncertain 3_51430657_A->C 3 51430657 51430657 A C snp 1235.77 0/1 99 132 74 58 0.44 exonic RBM15B AU synonymous SNV NM_013286 exon1 c.A1827C p.S609S 0.148363 0.3532 0.044525 0.0908 0.3450 Uncertain 3_51456105_G->A 3 51456105 51456105 G A snp 124.77 0/1 99 9 3 6 0.67 intronic rs79226498 VPRBP AU NM_001171904 exon11 c.19932-26G>A 0.0135783 0.0417 0.000245 0.0057 0.0522 ID=COSN166891;OCCURENCE=1(haematopoietic_and_lymphoid_tissue) Uncertain 3_51457035_T->C 3 51457035 51457035 T C snp 240.77 0/1 60 11 3 8 0.73 intronic rs3749317 VPRBP AU NM_001171904 exon12 c.20988-152T>C 0.146565 0.3532 Uncertain 3_51468217_A->G 3 51468217 51468217 A G snp 158.77 0/1 99 11 5 6 0.55 intronic rs12494979 VPRBP AU NM_001171904 exon16 c.31465+553A>G 0.141374 0.3532 Uncertain 3_51468971_A->- 3 51468971 51468971 A - indel 42.87 0/1 15 8 2 6 0.75 intronic VPRBP AU NM_001171904 exon16 c.31465+1307delA Uncertain 3_51469107_C->T 3 51469107 51469107 C T snp 357.77 0/1 99 56 37 19 0.34 intronic rs4611808 VPRBP AU NM_001171904 exon16 c.31465+1443C>T 0.921326 0.9444 Uncertain 3_51471298_A->G 3 51471298 51471298 A G snp 700.77 0/1 99 33 8 25 0.76 intronic rs201942404 VPRBP AU NM_001171904 exon16 c.31465+3634A>G Uncertain 3_51472033_A->G 3 51472033 51472033 A G snp 263.77 0/1 99 28 16 12 0.43 intronic rs17661242 VPRBP AU NM_001171904 exon17 c.38786-2952A>G 0.188099 0.3552 0.077891 0.0750 0.3406 Uncertain 3_51474182_G->A 3 51474182 51474182 G A snp 2455.77 0/1 99 236 135 101 0.43 intronic rs17712228 VPRBP AU NM_001171904 exon17 c.38786-803G>A 0.147764 0.3532 0.041106 0.0885 0.3388 Uncertain 3_51505078_ACT->- 3 51505078 51505080 ACT - indel 3692.73 0/1 99 142 68 74 0.52 intronic rs370800855 VPRBP AU NM_001171904 exon22 c.68822+57_68822+59delACT 0.146965 0.3532 0.040406 Uncertain 3_51517626_TG->- 3 51517626 51517627 TG - indel 520.73 1/1 42 14 0 14 1.0 intronic VPRBP AU NM_001171904 exon23 c.81535-108_81535-107delTG Uncertain 3_51517653_G->A 3 51517653 51517653 G A snp 332.77 0/1 99 23 10 13 0.57 intronic VPRBP AU NM_001171904 exon23 c.81535-81G>A 0.138778 0.3244 Uncertain 3_51697493_A->G 3 51697493 51697493 A G snp 2813.77 1/1 99 99 0 99 1.0 UTR3 rs904145 RAD54L2 AU 0.988419 1 Uncertain 3_51737965_G->A 3 51737965 51737965 G A snp 694.77 0/1 99 61 32 29 0.48 exonic rs11553574 TEX264 AU nonsynonymous SNV NM_001243727 exon4 c.G653A p.G218E 0.187899 0.3542 0.086180 0.1128 0.3469 1 T 0.0 P -0.959 T 0.0 T 0.0 T Pathogenic 3_51812952_C->T 3 51812952 51812952 C T snp 2784.77 0/1 99 211 91 120 0.57 exonic rs11130296 IQCF6 AU nonsynonymous SNV NM_001143833 exon2 c.G11A p.R4Q 0.132388 0.0764 0.200832 0.2070 0.0882 0.02 T 0.005 P -1.067 T 0.0 T 0.002 T Pathogenic 3_51895850_C->T 3 51895850 51895850 C T snp 1767.77 1/1 99 56 0 56 1.0 intronic rs986539 IQCF2 AU NM_203424 exon2 c.191-23C>T 0.873802 0.9573 0.881670 0.9528 0.9519 Uncertain 3_51907736_A->G 3 51907736 51907736 A G snp 3114.77 1/1 99 105 0 105 1.0 ncRNA_exonic rs7635409 IQCF5-AS1 AU 0.717252 0.9246 0.697985 0.7519 0.9115 Uncertain 3_51908226_T->C 3 51908226 51908226 T C snp 3555.77 1/1 99 119 0 119 1.0 ncRNA_exonic rs1505403 IQCF5-AS1 AU 0.967652 1 0.974096 0.9924 1 Uncertain 3_51908430_T->C 3 51908430 51908430 T C snp 5841.77 1/1 99 214 0 214 1.0 ncRNA_exonic rs6794320 IQCF5-AS1 AU 0.968251 1 0.9955 1 Uncertain 3_51911118_C->T 3 51911118 51911118 C T snp 522.77 1/1 39 15 0 15 1.0 intergenic rs3036712 IQCF5-AS1 AU 0.6492 0.2 Uncertain 3_51929361_A->- 3 51929361 51929361 A - indel 1091.73 1/1 96 40 0 40 1.0 intronic rs34574240 IQCF1 AU NM_152397 exon1 c.447+9delA 0.998203 1 0.996568 0.9992 1 Uncertain 3_51930725_A->G 3 51930725 51930725 A G snp 212.77 0/1 99 17 10 7 0.41 intronic rs200040168 IQCF1 AU NM_152397 exon2 c.1942-122A>G 0.109425 0.0942 Uncertain 3_51930728_CG->- 3 51930728 51930729 CG - indel 202.73 0/1 99 18 7 11 0.61 intronic rs150817790 IQCF1 AU NM_152397 exon2 c.1942-119_1942-118delCG Uncertain 3_51936949_T->C 3 51936949 51936949 T C snp 2952.77 0/1 99 250 131 119 0.48 intronic rs7635125 IQCF1 AU NM_152397 exon3 c.8095-51T>C 0.746406 0.8988 0.688699 Uncertain 3_51967439_A->G 3 51967439 51967439 A G snp 414.77 0/1 99 28 12 16 0.57 downstream rs323886 RRP9 AU 0.127995 0.0685 0.114104 Uncertain 3_51967833_G->A 3 51967833 51967833 G A snp 932.77 0/1 99 80 42 38 0.47 intronic rs114757525 RRP9 AU NM_004704 exon2 c.276+36G>A 0.0413339 0.0615 0.027064 0.0232 0.0686 Uncertain 3_51968429_C->T 3 51968429 51968429 C T snp 616.77 0/1 99 44 20 24 0.55 intronic rs323887 RRP9 AU NM_004704 exon3 c.966-58C>T 0.114417 0.0685 0.106877 Uncertain 3_51971382_T->C 3 51971382 51971382 T C snp 841.77 0/1 99 65 25 40 0.62 intronic rs323898 RRP9 AU NM_004704 exon10 c.3813+48T>C 0.116214 0.0685 0.114563 0.0478 0.0794 Uncertain 3_51975569_-->C 3 51975569 51975569 - C indel 258.73 0/1 99 30 9 21 0.7 intronic rs5848937 RRP9 AU NM_004704 exon14 c.7986+62insC Uncertain 3_51978220_A->G 3 51978220 51978220 A G snp 6540.77 1/1 99 242 0 242 1.0 exonic rs28547534 PARP3 AU nonsynonymous SNV NM_001003931 exon3 c.A320G p.H107R 0.997604 1 0.992043 0.9927 1 1 T 0.000 P -1.000 T 0.0 T 0.0 T Pathogenic 3_51978327_A->G 3 51978327 51978327 A G snp 1001.77 0/1 99 73 38 35 0.48 intronic rs323868 PARP3 AU NM_001003931 exon4 c.1700-78A>G 0.118411 0.0685 Uncertain 3_51979120_C->T 3 51979120 51979120 C T snp 1268.77 0/1 99 163 101 62 0.38 exonic rs4986825 PARP3 AU synonymous SNV NM_001003931 exon6 c.C762T p.G254G 0.0223642 0.0615 0.009862 0.0188 0.0703 Uncertain 3_51982251_A->G 3 51982251 51982251 A G snp 339.77 0/1 99 27 15 12 0.44 intronic rs188953 PARP3 AU NM_001003931 exon11 c.5621-75A>G 0.190895 0.2768 Uncertain 3_51989546_A->G 3 51989546 51989546 A G snp 111.77 0/1 99 8 4 4 0.5 UTR5 rs79548896 GPR62 AU 0.0453275 0.0615 Uncertain 3_51990119_A->C 3 51990119 51990119 A C snp 522.77 1/1 39 18 0 18 1.0 exonic rs28587738 GPR62 AU nonsynonymous SNV NM_080865 exon1 c.A451C p.T151P 0.997804 1 0.9967 1 0.1 T 0.000 P -1.015 T 0.0 T 0.0 T Pathogenic 3_51990315_A->G 3 51990315 51990315 A G snp 1986.77 1/1 99 71 0 71 1.0 exonic rs28651222 GPR62 AU nonsynonymous SNV NM_080865 exon1 c.A647G p.H216R 0.997804 1 0.995002 0.9954 0.9999 1 T 0.011 P -0.999 T 0.0 T 0.0 T Pathogenic 3_51990605_G->C 3 51990605 51990605 G C snp 1475.77 0/1 99 150 86 64 0.43 exonic rs323871 GPR62 AU nonsynonymous SNV NM_080865 exon1 c.G937C p.V313L 0.117612 0.0685 0.103661 0.0498 0.0859 0.67 T 0.0 P -0.942 T 0.0 T 0.0 T Pathogenic 3_51993725_G->A 3 51993725 51993725 G A snp 538.77 0/1 99 33 11 22 0.67 intronic rs323873 PCBP4 AU NM_020418 exon6 c.1591+58G>A 0.116813 0.0685 0.108410 Uncertain 3_51993839_G->C 3 51993839 51993839 G C snp 407.77 0/1 99 26 12 14 0.54 intronic rs2271069 PCBP4 AU NM_001174100 exon7 c.1834-71G>C 0.0441294 0.0615 Uncertain 3_51994587_T->C 3 51994587 51994587 T C snp 2798.77 0/1 99 234 112 122 0.52 exonic rs323874 PCBP4 AU synonymous SNV NM_033008 exon5 c.A210G p.A70A 0.118211 0.0685 0.117254 0.0492 0.0816 Uncertain 3_51994924_GT->- 3 51994924 51994925 GT - indel 2284.73 0/1 99 90 42 48 0.53 intronic rs3214327 PCBP4 AU NM_020418 exon9 c.2838+10_2838+11delGT 0.126398 0.0685 0.122265 0.0561 0.0804 Uncertain 3_52011879_C->T 3 52011879 52011879 C T snp 1105.77 0/1 99 131 82 49 0.37 ncRNA_intronic rs411209 ABHD14A-ACY1 AU 0.102436 0.0704 0.098262 0.0453 0.0808 Uncertain 3_52018221_G->A 3 52018221 52018221 G A snp 2092.77 0/1 99 209 114 95 0.45 ncRNA_intronic rs56715917 ABHD14A-ACY1 AU 0.0233626 0.0635 0.009843 0.0203 0.0761 Uncertain 3_52020411_C->T 3 52020411 52020411 C T snp 841.77 0/1 99 73 35 38 0.52 ncRNA_intronic rs323893 ABHD14A-ACY1 AU 0.129792 0.0704 0.121944 0.0625 0.0855 Uncertain 3_52021092_A->G 3 52021092 52021092 A G snp 779.77 0/1 99 49 17 32 0.65 ncRNA_intronic rs323894 ABHD14A-ACY1 AU 0.103235 0.0704 0.099108 0.0452 0.0806 Uncertain 3_52021316_A->G 3 52021316 52021316 A G snp 2327.77 0/1 99 202 100 102 0.5 ncRNA_intronic rs323895 ABHD14A-ACY1 AU 0.128195 0.0704 0.122021 0.0574 0.0803 Uncertain 3_52088485_A->C 3 52088485 52088485 A C snp 537.77 0/1 99 51 30 21 0.41 intronic rs72964042 DUSP7 AU NM_001947 exon2 c.3560+95A>C 0.126198 0.0873 Uncertain 3_52097060_C->T 3 52097060 52097060 C T snp 1014.77 0/1 99 60 17 43 0.72 ncRNA_exonic rs4687608 LINC00696 AU 0.213059 0.6091 0.1733 0.5859 Uncertain 3_52097311_G->A 3 52097311 52097311 G A snp 2510.77 0/1 99 217 111 106 0.49 ncRNA_exonic rs769170137 LINC00696 AU 8.691e-06 0.0001 0 D 1 N -0.945 T Uncertain 3_52098458_C->T 3 52098458 52098458 C T snp 86.77 0/1 28 4 1 3 0.75 ncRNA_exonic rs57335685 LINC00696 AU 0.0960463 0.0923 Uncertain 3_52109841_T->C 3 52109841 52109841 T C snp 1168.77 0/1 99 111 64 47 0.42 UTR3 rs731684 POC1A AR 0.334065 0.4504 Uncertain 3_52188308_T->C 3 52188308 52188308 T C snp 1480.77 0/1 99 141 71 70 0.5 intronic rs6777340 POC1A AR NM_001161580 exon10 c.78468-62T>C 0.340855 0.4593 0.207328 Uncertain 3_52188361_C->T 3 52188361 52188361 C T snp 1177.77 0/1 99 109 57 52 0.48 intronic rs114209632 POC1A AR NM_001161580 exon10 c.78468-9C>T 0.096246 0.0873 0.093224 0.1544 0.1959 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000118007.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 3_52232979_-->TTTAC 3 52232979 52232979 - TTTAC indel 5611.73 0/1 99 153 64 89 0.58 intronic rs3216487 ALAS1 AU NM_001304444 exon2 c.30+115insTTTAC 0.463259 0.3988 Uncertain 3_52236762_G->A 3 52236762 52236762 G A snp 287.77 0/1 99 48 36 12 0.25 intronic rs352169 ALAS1 AU NM_000688 exon4 c.3493+12G>A 0.400759 0.3948 0.475319 0.4937 0.3939 Uncertain 3_52237970_C->T 3 52237970 52237970 C T snp 1925.77 0/1 99 153 70 83 0.54 exonic rs352168 ALAS1 AU synonymous SNV NM_000688 exon5 c.C519T p.I173I 0.398363 0.3948 0.472628 0.4812 0.3805 Uncertain 3_52238656_T->C 3 52238656 52238656 T C snp 424.77 0/1 99 26 13 13 0.5 intronic rs352167 ALAS1 AU NM_000688 exon6 c.5451-52T>C 0.460663 0.4008 Uncertain 3_52238677_C->T 3 52238677 52238677 C T snp 821.77 0/1 99 48 20 28 0.58 intronic rs352166 ALAS1 AU NM_000688 exon6 c.5451-31C>T 0.410743 0.4008 0.478776 0.5065 0.4223 Uncertain 3_52256697_C->T 3 52256697 52256697 C T snp 2132.77 0/1 99 143 66 77 0.54 exonic rs352140 TLR9 AU synonymous SNV NM_017442 exon2 c.G1635A p.P545P 0.415535 0.3948 0.481778 0.4921 0.3796 0.001 P -0.998 T Likely benign 3_52258372_T->C 3 52258372 52258372 T C snp 41.77 0/1 70 4 2 2 0.5 intronic rs352139 TLR9 AU NM_017442 exon1 c.3096+44T>C 0.509984 0.4048 0.587883 0.5151 0.3696 Uncertain 3_52272945_-->G 3 52272945 52272945 - G indel 635.73 0/1 33 34 4 30 0.88 intronic rs11441245 TWF2 AU NM_007284 exon9 c.9958-62insG 0.816294 0.875 Uncertain 3_52325759_A->G 3 52325759 52325759 A G snp 2073.77 0/1 99 176 89 87 0.49 splicing rs2276834 GLYCTK AR NM_145262 exon4 c.1404-3A>G 0.508986 0.4008 0.549131 0.4852 0.3861 Pathogenic 3_52325786_G->A 3 52325786 52325786 G A snp 2261.77 0/1 99 193 96 97 0.5 exonic rs200873445 GLYCTK AR nonsynonymous SNV NM_145262 exon4 c.G553A p.A185T 0.000798722 0.003 0.0003 0.0031 0.4 T 1 D -0.637 T 0.999 D 0.968 D Pathogenic 3_52390772_A->G 3 52390772 52390772 A G snp 787.77 0/1 99 70 36 34 0.49 exonic rs142595873 DNAH1 AU nonsynonymous SNV NM_015512 exon22 c.A3836G p.K1279R 0.00219649 0.0099 0.0012 0.0159 0.53 T 0.962 D -1.050 T 0.001 T 0.005 T Pathogenic 3_52393442_C->G 3 52393442 52393442 C G snp 551.77 0/1 99 31 9 22 0.71 intronic rs2306864 DNAH1 AU NM_015512 exon26 c.36944+40C>G 0.13099 0.3046 0.063307 0.1353 0.3171 Uncertain 3_52415865_A->G 3 52415865 52415865 A G snp 1605.77 1/1 99 46 0 46 1.0 intronic rs770284 DNAH1 AU NM_015512 exon49 c.59394+13A>G 1 1 0.9999 1 Uncertain 3_52430526_G->A 3 52430526 52430526 G A snp 2419.77 0/1 99 250 148 102 0.41 exonic rs12163565 DNAH1 AU nonsynonymous SNV NM_015512 exon71 c.G11402A p.G3801D 0.165935 0.2927 0.141892 0.2325 0.3061 1 T 0.0 P -0.915 T 0.0 T 0.003 T Pathogenic 3_52430698_A->G 3 52430698 52430698 A G snp 5959.77 1/1 99 203 0 203 1.0 exonic rs365048 DNAH1 AU nonsynonymous SNV NM_015512 exon72 c.A11495G p.H3832R 0.996406 1 0.995485 0.9986 1 1 T 0.000 P -0.961 T 0.0 T 0.0 T Pathogenic 3_52453893_C->T 3 52453893 52453893 C T snp 1227.77 1/1 87 45 0 45 1.0 exonic rs498778 PHF7 AU synonymous SNV NM_016483 exon5 c.C231T p.G77G 0.971446 0.9812 0.961556 0.9632 0.9814 1.000 P -1.030 T Likely benign 3_52456973_A->G 3 52456973 52456973 A G snp 284.77 0/1 99 17 8 9 0.53 intronic rs2272088 PHF7 AU NM_016483 exon10 c.10002+76A>G 0.260982 0.3829 Uncertain 3_52471942_G->A 3 52471942 52471942 G A snp 1621.77 1/1 99 47 0 47 1.0 intronic rs82825 SEMA3G AU NM_020163 exon3 c.2368-44G>A 0.836062 0.9732 0.809438 0.8591 0.9768 Uncertain 3_52477080_T->C 3 52477080 52477080 T C snp 4608.77 1/1 99 176 0 176 1.0 intronic rs2016575 SEMA3G AU NM_020163 exon15 c.7305+157T>C 0.839058 0.9732 0.8563 0.9686 0.53 T 0.0 P -1.027 T Uncertain 3_52478784_GCACACAAACACTGCACAT->- 3 52478784 52478802 GCACACAAACACTGCACAT - indel 1841.73 1/1 36 12 0 12 1.0 intronic rs530734897 SEMA3G AU NM_020163 exon16 c.9310-144_9310-126delGCACACAAACACTGCACAT 0.953474 0.9663 Uncertain 3_52487894_T->C 3 52487894 52487894 T C snp 601.77 0/1 99 55 29 26 0.47 intronic rs2070914 TNNC1 AU NM_003280 exon6 c.2717-113T>C 0.0247604 0.0942 Uncertain 3_52488202_C->T 3 52488202 52488202 C T snp 460.77 1/1 36 14 0 14 1.0 upstream rs1035002 TNNC1 AU 0.970048 0.9782 Uncertain 3_52489564_A->T 3 52489564 52489564 A T snp 88.28 1/1 9 4 0 4 1.0 UTR5 rs968588 NISCH AU 0.971246 0.9812 Uncertain 3_52491836_G->A 3 52491836 52491836 G A snp 295.77 0/1 99 35 21 14 0.4 intronic rs12629472 NISCH AU NM_001276294 exon2 c.2201-22G>A 0.163938 0.2956 0.143242 0.1921 0.2781 Uncertain 3_52492085_G->A 3 52492085 52492085 G A snp 1069.77 1/1 78 35 0 35 1.0 intronic rs4687614 NISCH AU NM_001276294 exon2 c.2285+143G>A 0.961661 0.9812 Uncertain 3_52492475_A->G 3 52492475 52492475 A G snp 211.84 1/1 18 6 0 6 1.0 intronic rs9850471 NISCH AU NM_001276294 exon3 c.3020-202A>G 0.971845 0.9812 Uncertain 3_52492707_T->C 3 52492707 52492707 T C snp 2399.77 1/1 99 86 0 86 1.0 exonic rs1541495 NISCH AU synonymous SNV NM_007184 exon3 c.T207C p.N69N 0.955272 0.9782 0.947178 0.9535 0.9815 Uncertain 3_52505758_-->AT 3 52505758 52505758 - AT indel 4453.73 1/1 99 81 0 81 1.0 intronic rs3065763 NISCH AU NM_001276294 exon5 c.16172-71insAT 0.614217 0.6359 Uncertain 3_52506282_A->G 3 52506282 52506282 A G snp 1473.77 1/1 99 58 1 57 0.98 intronic rs4312651 NISCH AU NM_001276294 exon6 c.16661-36A>G 0.971645 0.9812 0.960864 0.9620 0.9832 Uncertain 3_52506426_C->T 3 52506426 52506426 C T snp 1504.77 1/1 99 60 0 60 1.0 intronic rs6784615 NISCH AU NM_001276294 exon6 c.16757+12C>T 0.963059 0.9782 0.955251 0.9553 0.9816 Uncertain 3_52506491_A->G 3 52506491 52506491 A G snp 893.77 1/1 66 28 0 28 1.0 intronic rs6445486 NISCH AU NM_001276294 exon6 c.16757+77A>G 0.971645 0.9812 Uncertain 3_52507719_G->C 3 52507719 52507719 G C snp 793.77 0/1 99 64 31 33 0.52 intronic rs13094915 NISCH AU NM_001276294 exon7 c.18092-30G>C 0.449481 0.4514 0.440643 0.4238 0.4498 Uncertain 3_52510592_G->A 3 52510592 52510592 G A snp 6414.77 1/1 99 229 0 229 1.0 exonic rs9856575 NISCH AU nonsynonymous SNV NM_007184 exon8 c.G895A p.V299I 0.99361 1 0.984853 0.9859 1 1 T 0.000 P -0.963 T 0.004 T 0.001 T Pathogenic 3_52510697_G->A 3 52510697 52510697 G A snp 965.77 1/1 75 27 0 27 1.0 intronic rs7620015 NISCH AU NM_001276294 exon8 c.20958+82G>A 0.964457 0.9782 Uncertain 3_52512318_A->G 3 52512318 52512318 A G snp 4220.77 1/1 99 144 0 144 1.0 intronic rs2109559 NISCH AU NM_001276294 exon10 c.22641+20A>G 0.964657 0.9782 0.957942 0.9566 0.9815 Uncertain 3_52513940_T->C 3 52513940 52513940 T C snp 1101.77 1/1 81 30 0 30 1.0 intronic rs4687618 NISCH AU NM_001276294 exon12 c.24221+62T>C 0.971645 0.9812 Uncertain 3_52518786_T->C 3 52518786 52518786 T C snp 1722.77 1/1 99 57 0 57 1.0 intronic rs4687619 NISCH AU NM_007184 exon14 c.28996+133T>C 0.971645 0.9812 Uncertain 3_52522659_T->C 3 52522659 52522659 T C snp 624.77 1/1 48 17 0 17 1.0 intronic rs887514 NISCH AU NM_007184 exon16 c.32964+38T>C 0.964058 0.9782 0.961047 0.9579 0.9810 Uncertain 3_52523405_C->T 3 52523405 52523405 C T snp 1649.77 1/1 99 58 1 57 0.98 exonic rs887515 NISCH AU nonsynonymous SNV NM_007184 exon17 c.C3167T p.A1056V 0.728235 0.9782 0.686509 0.8205 0.9808 0.39 T 0.0 P -1.024 T 0.0 T 0.0 T Pathogenic 3_52524574_C->A 3 52524574 52524574 C A snp 389.77 1/1 30 10 0 10 1.0 intronic rs6810027 NISCH AU NM_007184 exon19 c.35063-146C>A 0.971645 0.9812 Uncertain 3_52524974_A->C 3 52524974 52524974 A C snp 470.77 1/1 36 14 0 14 1.0 intronic rs4687621 NISCH AU NM_007184 exon19 c.35192+125A>C 0.971645 0.9812 Uncertain 3_52526535_G->A 3 52526535 52526535 G A snp 657.77 0/1 99 48 26 22 0.46 UTR3 rs2240897 NISCH AU 0.0231629 0.0883 0.001099 0.0153 0.0912 Uncertain 3_52529266_T->C 3 52529266 52529266 T C snp 148.77 0/1 99 10 5 5 0.5 upstream rs758800 STAB1 AU 0.948882 0.8929 Uncertain 3_52536308_A->C 3 52536308 52536308 A C snp 800.77 1/1 60 23 0 23 1.0 intronic rs758801 STAB1 AU NM_015136 exon5 c.6815+64A>C 0.888578 0.9772 0.854139 Uncertain 3_52536514_G->A 3 52536514 52536514 G A snp 804.77 0/1 99 54 21 33 0.61 intronic rs731831 STAB1 AU NM_015136 exon6 c.7218-133G>A 0.265775 0.4236 Uncertain 3_52537969_T->C 3 52537969 52537969 T C snp 6193.77 1/1 99 226 1 225 1.0 intronic rs4687545 STAB1 AU NM_015136 exon9 c.8489+51T>C 0.960463 0.9752 0.945763 0.9415 0.9811 Uncertain 3_52538300_G->C 3 52538300 52538300 G C snp 412.77 0/1 99 41 23 18 0.44 intronic rs7613444 STAB1 AU NM_015136 exon10 c.8742+129G>C 0.163938 0.2907 Uncertain 3_52540773_T->C 3 52540773 52540773 T C snp 2339.77 0/1 99 163 69 94 0.58 exonic rs1010553 STAB1 AU synonymous SNV NM_015136 exon18 c.T1896C p.G632G 0.638778 0.5446 0.594894 0.5426 0.5577 Uncertain 3_52544470_A->G 3 52544470 52544470 A G snp 4296.77 1/1 99 153 0 153 1.0 exonic rs9835659 STAB1 AU nonsynonymous SNV NM_015136 exon25 c.A2734G p.M912V 0.991414 1 0.983700 0.9839 1 0.38 T 0.0 P -0.959 T 0.0 T 0.0 T Pathogenic 3_52546487_C->T 3 52546487 52546487 C T snp 4510.77 1/1 99 164 0 164 1.0 intronic rs7644763 STAB1 AU NM_015136 exon27 c.17023+35C>T 0.955072 0.9752 0.939259 0.9372 0.9808 Uncertain 3_52546820_C->T 3 52546820 52546820 C T snp 658.77 0/1 99 61 32 29 0.48 intronic rs2015971 STAB1 AU NM_015136 exon29 c.17414-23C>T 0.341853 0.4454 0.365476 0.4254 0.4417 Uncertain 3_52551265_T->C 3 52551265 52551265 T C snp 3074.77 1/1 99 97 0 97 1.0 intronic rs66824127 STAB1 AU NM_015136 exon43 c.21906-70T>C 0.459864 0.621 Uncertain 3_52551284_G->T 3 52551284 52551284 G T snp 3509.77 1/1 99 124 13 111 0.9 intronic rs67409736 STAB1 AU NM_015136 exon43 c.21906-51G>T 0.58127 0.621 0.592341 Uncertain 3_52551973_C->T 3 52551973 52551973 C T snp 1695.77 0/1 99 156 86 70 0.45 exonic rs77803411 STAB1 AU nonsynonymous SNV NM_015136 exon45 c.C4715T p.A1572V 0.0213658 0.0853 0.001000 0.0125 0.0861 0.04 T 1 N -0.879 T 0.0 T 0.001 T Pathogenic 3_52553626_GTAA->- 3 52553626 52553629 GTAA - indel 3731.73 0/1 99 175 98 77 0.44 intronic rs112646045 STAB1 AU NM_015136 exon50 c.24151+46_24151+49delGTAA 0.423722 0.4623 0.466272 0.4989 0.4474 Uncertain 3_52554304_G->C 3 52554304 52554304 G C snp 6902.77 1/1 99 239 0 239 1.0 exonic rs7630214 STAB1 AU nonsynonymous SNV NM_015136 exon52 c.G5497C p.A1833P 0.983227 1 0.957174 0.9600 1 0.33 T 0.0 P -0.943 T 0.0 T 0.0 T Pathogenic 3_52555316_G->A 3 52555316 52555316 G A snp 202.77 0/1 99 17 7 10 0.59 intronic rs13081028 STAB1 AU NM_015136 exon56 c.25947-60G>A 0.545527 0.4633 Uncertain 3_52555957_T->C 3 52555957 52555957 T C snp 3282.77 0/1 99 250 121 129 0.52 exonic rs9853056 STAB1 AU synonymous SNV NM_015136 exon58 c.T6261C p.R2087R 0.563698 0.4613 0.614273 0.5555 0.4575 Uncertain 3_52556890_A->G 3 52556890 52556890 A G snp 1762.77 0/1 99 157 79 78 0.5 exonic rs4434138 STAB1 AU nonsynonymous SNV NM_015136 exon62 c.A6844G p.I2282V 0.341254 0.4385 0.376519 0.4292 0.4385 0.4 T 0.001 P -0.989 T 0.003 T 0.009 T Pathogenic 3_52557038_C->T 3 52557038 52557038 C T snp 2510.77 0/1 99 180 76 104 0.58 splicing rs4234633 STAB1 AU NM_015136 exon63 c.27611-2C>T 0.334864 0.4375 0.365831 0.4246 0.4375 Pathogenic 3_52558008_T->C 3 52558008 52558008 T C snp 2610.77 0/1 99 173 79 94 0.54 exonic rs13303 STAB1 AU nonsynonymous SNV NM_015136 exon67 c.T7517C p.M2506T 0.548522 0.4524 0.597814 0.5453 0.4534 0.76 T 0.0 P -0.945 T 0.0 T 0.0 T Pathogenic 3_52558133_T->C 3 52558133 52558133 T C snp 4028.77 0/1 99 249 115 134 0.54 exonic rs13621 STAB1 AU synonymous SNV NM_015136 exon68 c.T7560C p.D2520D 0.390974 0.4296 0.413886 0.4369 0.4346 0.035 P Uncertain 3_52558904_A->T 3 52558904 52558904 A T snp 1825.77 0/1 99 179 103 76 0.42 intronic rs34005367 NT5DC2 AU NM_022908 exon2 c.412+7A>T 0.332268 0.4266 0.364909 0.4162 0.4317 Uncertain 3_52559168_GGGG->- 3 52559168 52559171 GGGG - indel 1938.73 ./1 99 73 10 63 0.86 intronic rs547180715 NT5DC2 AU NM_022908 exon3 c.634+49_634+52delGGGG 0.984225 0.997 0.6142 0.6170 Uncertain 3_52559168_GG->- 3 52559168 52559169 GG - indel 1938.73 ./1 99 73 10 63 0.86 intronic rs58050076 NT5DC2 AU NM_022908 exon3 c.634+49_634+50delGG 0.1493 0.1870 Uncertain 3_52561779_C->T 3 52561779 52561779 C T snp 2960.77 0/1 99 248 127 121 0.49 intronic rs11711421 NT5DC2 AU NM_022908 exon6 c.3249+45C>T 0.385783 0.4038 0.411272 0.4342 0.4121 Uncertain 3_52562628_T->G 3 52562628 52562628 T G snp 56.77 0/1 85 36 23 13 0.36 intronic rs765072244 NT5DC2 AU NM_022908 exon11 c.4167-24T>G 0.0027 0.0016 Uncertain 3_52567617_A->G 3 52567617 52567617 A G snp 384.77 0/1 99 28 10 18 0.64 exonic rs66782572 NT5DC2 AU nonsynonymous SNV NM_001134231 exon1 c.T137C p.V46A 0.467851 0.4504 0.3627 . 0.98 T 0.000 P -0.931 T 0.0 T 0.0 T Pathogenic 3_52568805_G->T 3 52568805 52568805 G T snp 318.77 0/1 99 16 5 11 0.69 UTR5 rs7639267 NT5DC2 AU 0.545128 0.4504 Uncertain 3_52584431_-->CTC 3 52584431 52584431 - CTC indel 998.73 0/1 99 39 20 19 0.49 splicing rs34372721 PBRM1 AU NM_018313 exon2 c.2358-5insCTC 0.496605 0.4554 0.521961 0.5037 0.4464 Pathogenic 3_52584715_A->G 3 52584715 52584715 A G snp 1144.77 0/1 99 83 33 50 0.6 intronic rs2878628 PBRM1 AU NM_018313 exon3 c.2684-47A>G 0.398363 0.4296 0.418192 0.4181 0.4319 Uncertain 3_52584787_T->C 3 52584787 52584787 T C snp 887.77 0/1 99 63 30 33 0.52 exonic rs2251219 PBRM1 AU synonymous SNV NM_018313 exon28 c.A4335G p.P1445P 0.323083 0.4296 0.329310 0.3822 0.4314 Uncertain 3_52610651_T->A 3 52610651 52610651 T A snp 1091.77 0/1 99 150 97 53 0.35 exonic rs17264436 PBRM1 AU synonymous SNV NM_018313 exon23 c.A3522T p.P1174P 0.316094 0.4276 0.325081 0.3752 0.4304 Uncertain 3_52637486_C->G 3 52637486 52637486 C G snp 113.77 0/1 99 9 5 4 0.44 intronic rs2276824 PBRM1 AU NM_018313 exon13 c.55458-50C>G 0.570687 0.4544 0.624787 0.5400 0.4662 Uncertain 3_52643307_A->G 3 52643307 52643307 A G snp 630.77 0/1 99 68 38 30 0.44 intronic rs3733045 PBRM1 AU NM_018313 exon14 c.61250-21A>G 0.447883 0.4276 0.459929 0.4445 0.4339 Uncertain 3_52643685_T->C 3 52643685 52643685 T C snp 2767.77 0/1 99 214 105 109 0.51 exonic rs3755806 PBRM1 AU synonymous SNV NM_018313 exon17 c.A2211G p.T737T 0.322484 0.4276 0.329617 0.3820 0.4313 ID=COSM1566684;OCCURENCE=1(large_intestine) Uncertain 3_52659124_T->C 3 52659124 52659124 T C snp 225.77 0/1 99 15 7 8 0.53 intronic rs34215106 PBRM1 AU NM_018313 exon17 c.79210-2164T>C 0.322284 0.4276 Uncertain 3_52676065_C->T 3 52676065 52676065 C T snp 491.77 0/1 99 62 35 27 0.44 splicing rs11719685 PBRM1 AU NM_018313 exon20 c.93983+4C>T 0.305911 0.4058 0.324850 0.3074 0.3369 Pathogenic 3_52682205_G->A 3 52682205 52682205 G A snp 43.77 0/1 64 4 2 2 0.5 intronic rs34757451 PBRM1 AU NM_018313 exon23 c.100281-154G>A 0.31889 0.4276 Uncertain 3_52685921_C->A 3 52685921 52685921 C A snp 82.77 0/1 99 16 12 4 0.25 intronic PBRM1 AU NM_018313 exon24 c.103748+95C>A Uncertain 3_52692124_G->A 3 52692124 52692124 G A snp 371.77 0/1 99 31 16 15 0.48 intronic rs2336149 PBRM1 AU NM_018313 exon25 c.110136-90G>A 0.444489 0.4276 Uncertain 3_52692359_C->G 3 52692359 52692359 C G snp 869.77 0/1 99 78 44 34 0.44 intronic rs2590846 PBRM1 AU NM_018313 exon25 c.110253+28C>G 0.319089 0.4276 0.329745 0.3914 0.4456 Uncertain 3_52720080_A->C 3 52720080 52720080 A C snp 3004.77 0/1 99 250 132 118 0.47 UTR5 rs1108842 GNL3 AU 0.490415 0.4534 0.520913 0.4929 0.4492 Uncertain 3_52721305_G->A 3 52721305 52721305 G A snp 1740.77 0/1 99 143 71 72 0.5 exonic rs11177 GNL3 AU nonsynonymous SNV NM_014366 exon3 c.G116A p.R39Q 0.311901 0.4236 0.324927 0.3749 0.4299 0.53 T 0.305 P -0.901 T 0.064 T 0.015 T Pathogenic 3_52722267_T->- 3 52722267 52722267 T - indel 225.73 0/1 99 29 14 15 0.52 intronic rs3836492 GNL3 AU NM_014366 exon5 c.2100+59delT 0.49381 0.4554 0.538019 Uncertain 3_52726695_C->T 3 52726695 52726695 C T snp 1169.77 0/1 99 90 48 42 0.47 intronic rs6762813 GNL3 AU NM_014366 exon10 c.6779-192C>T 0.311502 0.4256 Uncertain 3_52727257_G->A 3 52727257 52727257 G A snp 1610.77 0/1 99 165 96 69 0.42 exonic rs2289247 GNL3 AU nonsynonymous SNV NM_014366 exon11 c.G1099A p.V367M 0.445088 0.4276 0.460249 0.4292 0.4299 0.35 T 0.0 P -0.934 T 0.0 T 0.0 T Pathogenic 3_52728804_C->T 3 52728804 52728804 C T snp 2586.77 0/1 99 239 133 106 0.44 UTR3 rs6976 GLT8D1 AU 0.304712 0.4256 0.4186 0.4853 0.95 T 0.000 P -0.922 T Uncertain 3_52729960_C->T 3 52729960 52729960 C T snp 2096.77 0/1 99 193 97 96 0.5 exonic rs2276812 GLT8D1 AU nonsynonymous SNV NM_018446 exon7 c.G629A p.R210H 0.0215655 0.0853 0.001000 0.0128 0.0871 0.15 T 1 D -1.149 T 0.647 T 0.111 P Pathogenic 3_52740182_C->G 3 52740182 52740182 C G snp 643.77 0/1 99 109 80 29 0.27 exonic rs6617 SPCS1 AU nonsynonymous SNV NM_014041 exon1 c.C121G p.P41A 0.445288 0.4286 0.4158 0.4865 1 T 0.0 P -0.949 T 0.0 T 0.0 T Pathogenic 3_52741601_G->T 3 52741601 52741601 G T snp 57.77 0/1 86 22 18 4 0.18 intronic SPCS1 AU NM_014041 exon4 c.1641-101G>T Uncertain 3_52771468_T->C 3 52771468 52771468 T C snp 174.9 1/1 15 5 0 5 1.0 intronic rs6445535 NEK4 AU NM_001193533 exon2 c.25809-133T>C 0.457668 0.4296 Uncertain 3_52778051_C->T 3 52778051 52778051 C T snp 603.77 1/1 45 17 0 17 1.0 intronic rs2286800 NEK4 AU NM_001193533 exon6 c.32462-203C>T 0.312101 0.4276 Uncertain 3_52778347_T->C 3 52778347 52778347 T C snp 3916.77 1/1 99 128 0 128 1.0 intronic rs2268026 NEK4 AU NM_001193533 exon6 c.32529+26T>C 0.332468 0.4296 0.329694 0.3879 0.4318 Uncertain 3_52797634_G->C 3 52797634 52797634 G C snp 715.77 1/1 54 20 0 20 1.0 exonic rs1029871 NEK4 AU nonsynonymous SNV NM_001193533 exon4 c.C406G p.P136A 0.30631 0.4246 0.318084 0.3727 0.4286 0.05 T 1.000 P -0.903 T 0.955 T 0.843 D Pathogenic 3_52800284_T->C 3 52800284 52800284 T C snp 4090.77 1/1 99 157 0 157 1.0 exonic rs2230535 NEK4 AU synonymous SNV NM_001193533 exon2 c.A201G p.L67L 0.332268 0.4296 0.330463 0.3880 0.4328 Uncertain 3_52802402_A->C 3 52802402 52802402 A C snp 2987.77 1/1 99 102 0 102 1.0 exonic rs2230534 NEK4 AU synonymous SNV NM_003157 exon2 c.T312G p.P104P 0.33147 0.4266 0.330617 0.3878 0.4318 Uncertain 3_52804487_T->C 3 52804487 52804487 T C snp 1380.77 1/1 99 46 0 46 1.0 intronic rs13071584 NEK4 AU NM_001193533 exon15 c.58877-182T>C 0.430911 0.4266 Uncertain 3_52814256_T->A 3 52814256 52814256 T A snp 327.77 0/1 99 38 20 18 0.47 intronic rs2302417 ITIH1 AU NM_001166434 exon4 c.821-28T>A 0.388578 0.4087 0.354353 0.4716 0.4392 Uncertain 3_52815905_T->C 3 52815905 52815905 T C snp 708.77 0/1 99 38 15 23 0.61 intronic rs2710323 ITIH1 AU NM_001166434 exon5 c.2492-50T>C 0.521765 0.4147 0.545133 0.4884 0.4035 Uncertain 3_52818579_G->A 3 52818579 52818579 G A snp 604.77 0/1 99 35 17 18 0.51 intronic rs2239551 ITIH1 AU NM_001166436 exon7 c.2276+86G>A 0.303914 0.373 Uncertain 3_52819327_T->A 3 52819327 52819327 T A snp 93.77 0/1 99 14 9 5 0.36 intronic rs2268023 ITIH1 AU NM_001166436 exon8 c.3028+82T>A 0.383387 0.374 Uncertain 3_52820856_GAAT->- 3 52820856 52820859 GAAT - indel 340.73 0/1 99 16 9 7 0.44 intronic rs36051478 ITIH1 AU NM_001166436 exon10 c.4743-104_4743-101delGAAT 0.428714 0.3849 Uncertain 3_52820981_A->T 3 52820981 52820981 A T snp 1356.77 0/1 99 107 44 63 0.59 exonic rs678 ITIH1 AU nonsynonymous SNV NM_002215 exon14 c.A1754T p.E585V 0.286941 0.3621 0.300400 0.3522 0.3638 0.03 T 0.999 P -0.922 T 1.0 D 0.997 D Pathogenic 3_52821011_A->G 3 52821011 52821011 A G snp 1651.77 0/1 99 116 47 69 0.59 exonic rs1042779 ITIH1 AU nonsynonymous SNV NM_002215 exon14 c.A1784G p.Q595R 0.42472 0.379 0.419576 0.3979 0.3806 0.32 T 0.0 P -0.948 T 0.113 T 0.042 T Pathogenic 3_52821177_A->C 3 52821177 52821177 A C snp 606.77 0/1 99 43 20 23 0.53 intronic rs2286798 ITIH1 AU NM_001166436 exon11 c.4986-26A>C 0.35623 0.3611 0.362141 0.3689 0.3644 Uncertain 3_52821993_T->- 3 52821993 52821993 T - indel 2541.73 0/1 99 153 77 76 0.5 intronic rs398040402 ITIH1 AU NM_001166436 exon13 c.5784-8delT 0.288339 0.3601 0.3750 0.3628 Uncertain 3_52824610_G->A 3 52824610 52824610 G A snp 563.77 0/1 99 30 11 19 0.63 intronic rs6778329 ITIH1 AU NM_001166436 exon16 c.8547-154G>A 0.329273 0.3611 Uncertain 3_52825462_A->G 3 52825462 52825462 A G snp 1902.77 0/1 99 200 119 81 0.41 intronic rs1076425 ITIH1 AU NM_001166436 exon17 c.9315-70A>G 0.312899 0.373 Uncertain 3_52825528_T->C 3 52825528 52825528 T C snp 2766.77 0/1 99 250 136 114 0.46 splicing rs1075653 ITIH1 AU NM_001166436 exon17 c.9315-4T>C 0.398762 0.373 0.402276 0.3767 0.3708 Pathogenic 3_52825585_T->C 3 52825585 52825585 T C snp 2810.77 0/1 99 249 135 114 0.46 exonic rs9324 ITIH1 AU synonymous SNV NM_002215 exon21 c.T2547C p.S849S 0.411941 0.373 0.416654 0.3805 0.3698 Uncertain 3_52828628_C->T 3 52828628 52828628 C T snp 185.77 0/1 99 10 4 6 0.6 upstream rs9881468 ITIH3 AU 0.28115 0.3681 Uncertain 3_52831009_C->T 3 52831009 52831009 C T snp 77.77 0/1 99 7 4 3 0.43 intronic rs2240920 ITIH3 AU NM_002217 exon5 c.2301-111C>T 0.327476 0.3571 Uncertain 3_52831701_C->G 3 52831701 52831701 C G snp 65.77 0/1 94 13 10 3 0.23 intronic rs2240919 ITIH3 AU NM_002217 exon6 c.3013-131C>G 0.244609 0.3571 Uncertain 3_52833219_G->A 3 52833219 52833219 G A snp 127.77 0/1 99 11 6 5 0.45 intronic rs2535629 ITIH3 AU NM_002217 exon7 c.4288+112G>A 0.484425 0.372 Uncertain 3_52833805_C->A 3 52833805 52833805 C A snp 1030.77 0/1 99 111 60 51 0.46 exonic rs3617 ITIH3 AU nonsynonymous SNV NM_002217 exon9 c.C943A p.Q315K 0.54373 0.4137 0.542364 0.4848 0.4178 0.55 T 0.0 P -0.918 T 0.0 T 0.0 T Pathogenic 3_52837793_T->C 3 52837793 52837793 T C snp 260.77 0/1 99 17 8 9 0.53 intronic rs4481150 ITIH3 AU NM_002217 exon14 c.9051-77T>C 0.510383 0.4266 Uncertain 3_52837855_T->C 3 52837855 52837855 T C snp 1369.77 0/1 99 79 31 48 0.61 intronic rs2710331 ITIH3 AU NM_002217 exon14 c.9051-15T>C 0.388778 0.3681 0.390951 0.3716 0.3664 Uncertain 3_52847601_C->T 3 52847601 52847601 C T snp 693.77 0/1 99 54 25 29 0.54 intronic rs2071044 ITIH4 AD NM_001166449 exon1 c.70+95C>T 0.552716 0.4256 Uncertain 3_52851137_T->C 3 52851137 52851137 T C snp 502.77 0/1 99 36 14 22 0.61 intronic rs2240917 ITIH4 AD NM_001166449 exon4 c.3638+63T>C 0.507788 0.37 Uncertain 3_52852060_T->C 3 52852060 52852060 T C snp 251.77 0/1 99 26 14 12 0.46 intronic rs2245538 ITIH4 AD NM_001166449 exon5 c.4631-7T>C 0.507788 0.37 0.474320 0.4311 0.3602 Uncertain 3_52852538_G->T 3 52852538 52852538 G T snp 1546.77 0/1 99 139 66 73 0.53 exonic rs4687657 ITIH4 AD nonsynonymous SNV NM_002218 exon18 c.C2092A p.P698T 0.257788 0.3155 0.250308 0.3187 0.3641 0.45 T 0.0 P -0.954 T 0.014 T 0.009 T Pathogenic 3_52853340_G->C 3 52853340 52853340 G C snp 1240.77 1/1 90 40 0 40 1.0 intronic rs7620907 ITIH4 AD NM_001166449 exon8 c.5972-68G>C 0.9998 0.999 Uncertain 3_52853386_C->T 3 52853386 52853386 C T snp 657.77 0/1 99 74 40 34 0.46 intronic rs202206858 ITIH4 AD NM_001166449 exon8 c.5972-22C>T 0.000399361 0.002 4.16e-05 0.0005 Uncertain 3_52853747_C->G 3 52853747 52853747 C G snp 851.77 0/1 99 59 24 35 0.59 intronic rs2276815 ITIH4 AD NM_002218 exon9 c.6333-22C>G 0.258387 0.3165 0.252576 0.2737 0.3101 Uncertain 3_52855229_T->C 3 52855229 52855229 T C snp 111.77 0/1 99 11 7 4 0.36 intronic rs2239547 ITIH4 AD NM_001166449 exon11 c.7710+83T>C 0.258986 0.3175 ID=CR117967;DIS=Schizophrenia, association with;TAG=DFP;PUB=21926974 DFP Uncertain 3_52860936_C->T 3 52860936 52860936 C T snp 2353.77 0/1 99 236 131 105 0.44 exonic rs2276817 ITIH4 AD synonymous SNV NM_002218 exon4 c.G390A p.V130V 0.245008 0.3175 0.226972 0.2476 0.3099 Uncertain 3_52861211_A->T 3 52861211 52861211 A T snp 914.77 0/1 99 79 37 42 0.53 exonic rs13072536 ITIH4 AD nonsynonymous SNV NM_002218 exon3 c.T254A p.I85N 0.245208 0.3175 0.227126 0.2478 0.3109 0.19 T 1.000 P -0.941 T 0.979 D 0.917 D Pathogenic 3_52864584_A->G 3 52864584 52864584 A G snp 2816.77 0/1 99 242 132 110 0.45 exonic rs2071042 ITIH4 AD synonymous SNV NM_002218 exon1 c.T75C p.T25T 0.508387 0.372 0.475473 0.4319 0.3640 Uncertain 3_52864693_T->G 3 52864693 52864693 T G snp 1257.77 0/1 99 103 55 48 0.47 UTR5 rs2071041 ITIH4 AD 0.359425 0.3175 0.337460 0.2881 0.3112 Uncertain 3_52866988_A->G 3 52866988 52866988 A G snp 178.9 1/1 15 5 0 5 1.0 downstream rs9681089 MUSTN1 AU 0.828874 0.9871 Uncertain 3_52867288_A->T 3 52867288 52867288 A T snp 6538.77 1/1 99 248 0 248 1.0 UTR3 rs4687661 MUSTN1 AU 0.828874 0.9871 0.9432 0.9879 Uncertain 3_52867595_C->A 3 52867595 52867595 C A snp 1192.77 0/1 99 91 42 49 0.54 intronic rs60332615 MUSTN1 AU NM_205853 exon2 c.293-37C>A 0.490016 0.628 0.535183 0.5801 0.6392 Uncertain 3_52867715_G->C 3 52867715 52867715 G C snp 5334.77 1/1 99 191 0 191 1.0 exonic rs6787916 MUSTN1 AU nonsynonymous SNV NM_205853 exon2 c.C60G p.D20E 0.951478 1 0.952974 0.9874 1 1 T 0.000 P -0.957 T 0.0 T 0.0 T Pathogenic 3_52867811_A->T 3 52867811 52867811 A T snp 4339.77 1/1 99 151 0 151 1.0 intronic rs6776876 MUSTN1 AU NM_205853 exon2 c.426+46A>T 0.986821 1 0.987280 0.9953 1 Uncertain 3_52868610_T->C 3 52868610 52868610 T C snp 470.77 0/1 99 30 16 14 0.47 intronic rs11922961 MUSTN1 AU NM_205853 exon3 c.1616-345T>C 0.492013 0.63 Uncertain 3_52868668_-->CACACA 3 52868668 52868668 - CACACA indel 5226.73 ./1 99 112 18 94 0.84 intronic rs142854055 MUSTN1 AU NM_205853 exon3 c.1616-287insCACACA Uncertain 3_52868668_-->CA 3 52868668 52868668 - CA indel 5226.73 ./1 99 112 18 94 0.84 intronic rs202115061 MUSTN1 AU NM_205853 exon3 c.1616-287insCA Uncertain 3_52868670_G->A 3 52868670 52868670 G A snp 3263.77 1/1 99 113 3 110 0.97 intronic rs62255421 MUSTN1 AU NM_205853 exon3 c.1616-285G>A 0.812101 0.8998 Uncertain 3_52868717_C->- 3 52868717 52868717 C - indel 2297.73 0/1 99 207 108 99 0.48 intronic rs77032405 MUSTN1 AU NM_205853 exon3 c.1616-238delC 0.499601 0.629 0.5638 0.6951 Uncertain 3_52870618_T->A 3 52870618 52870618 T A snp 2144.77 0/1 99 142 55 87 0.61 intronic rs4687663 TMEM110-MUSTN1 AU NM_001198974 exon2 c.426+2853T>A 0.245208 0.3175 0.1760 0.3030 Uncertain 3_52870729_-->A 3 52870729 52870729 - A indel 5411.73 1/1 99 133 0 133 1.0 intronic rs11374031 TMEM110-MUSTN1 AU NM_001198974 exon2 c.426+2964insA 0.907149 1 Uncertain 3_52874446_C->T 3 52874446 52874446 C T snp 569.77 0/1 99 48 26 22 0.46 UTR3 rs6769789 TMEM110 AU 0.468251 0.628 Uncertain 3_52874779_G->A 3 52874779 52874779 G A snp 40.74 1/1 6 2 0 2 1.0 intronic rs7638431 TMEM110 AU NM_198563 exon2 c.117+153G>A 0.827676 0.9871 Uncertain 3_52877647_-->A 3 52877647 52877647 - A indel 1957.73 1/1 99 50 0 50 1.0 intronic rs397703917 TMEM110 AU NM_198563 exon4 c.3227-89insA 0.00559105 Uncertain 3_52877649_G->A 3 52877649 52877649 G A snp 1475.77 1/1 99 51 0 51 1.0 intronic rs56008508 TMEM110 AU NM_198563 exon4 c.3227-87G>A Uncertain 3_52877720_T->C 3 52877720 52877720 T C snp 2537.77 1/1 99 97 0 97 1.0 intronic rs4687668 TMEM110 AU NM_198563 exon4 c.3227-16T>C 0.881589 1 0.881670 0.9667 0.9998 Uncertain 3_52878721_G->C 3 52878721 52878721 G C snp 459.77 1/1 36 12 0 12 1.0 intronic rs7650966 TMEM110 AU NM_198563 exon5 c.4335-123G>C 0.882388 1 Uncertain 3_52878746_-->AG 3 52878746 52878746 - AG indel 1011.73 1/1 60 20 0 20 1.0 intronic rs10637428 TMEM110 AU NM_198563 exon5 c.4335-98insAG 0.882388 1 Uncertain 3_52878825_C->A 3 52878825 52878825 C A snp 2510.77 1/1 99 97 0 97 1.0 intronic rs7629528 TMEM110 AU NM_198563 exon5 c.4335-19C>A 0.877995 1 0.882285 0.9633 1 Uncertain 3_52881634_-->G 3 52881634 52881634 - G indel 3284.73 1/1 99 84 0 84 1.0 intronic rs5848962 TMEM110 AU NM_198563 exon6 c.9298-2173insG 0.882388 1 Uncertain 3_52883655_T->- 3 52883655 52883655 T - indel 1189.73 1/1 81 27 0 27 1.0 intronic rs3216716 TMEM110 AU NM_198563 exon6 c.9298-152delT 0.827476 0.9871 Uncertain 3_52886605_T->C 3 52886605 52886605 T C snp 1710.77 0/1 99 176 100 76 0.43 intronic rs2276825 TMEM110 AU NM_198563 exon7 c.12109-13T>C 0.2502 0.3165 0.235891 0.2575 0.3115 Uncertain 3_52886914_A->T 3 52886914 52886914 A T snp 1051.77 1/1 78 32 0 32 1.0 intronic rs4687675 TMEM110 AU NM_198563 exon7 c.12205+200A>T 0.827676 0.9871 Uncertain 3_52960014_C->- 3 52960014 52960014 C - indel 4079.73 1/1 99 97 0 97 1.0 intronic rs11360013 SFMBT1 AU NM_016329 exon12 c.20895-32delC 0.964856 1 0.967897 0.9905 1 Uncertain 3_52960257_G->- 3 52960257 52960257 G - indel 957.73 0/1 99 61 22 39 0.64 intronic rs34584015 SFMBT1 AU NM_016329 exon12 c.20978+128delG 0.610623 0.6052 Uncertain 3_52960261_C->A 3 52960261 52960261 C A snp 963.77 0/1 99 52 22 30 0.58 intronic rs34585187 SFMBT1 AU NM_016329 exon12 c.20978+132C>A 0.611222 0.6052 Uncertain 3_52968726_T->C 3 52968726 52968726 T C snp 1894.77 1/1 99 70 0 70 1.0 intronic rs2257216 SFMBT1 AU NM_016329 exon17 c.29677-102T>C 0.561901 0.6002 Uncertain 3_52968801_T->C 3 52968801 52968801 T C snp 2814.77 1/1 99 107 0 107 1.0 intronic rs2710315 SFMBT1 AU NM_016329 exon17 c.29677-27T>C 0.983626 1 0.982470 0.9949 1 Uncertain 3_53003021_G->C 3 53003021 53003021 G C snp 1557.77 1/1 99 49 0 49 1.0 intronic rs2245424 SFMBT1 AU NM_016329 exon20 c.63965-95G>C 0.51877 0.6002 Uncertain 3_53125922_T->C 3 53125922 53125922 T C snp 681.77 0/1 99 66 38 28 0.42 exonic rs11242 RFT1 AR synonymous SNV NM_052859 exon13 c.A1623G p.T541T 0.490415 0.746 0.455251 0.5510 0.7419 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000082329.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 3_53126143_G->A 3 53126143 53126143 G A snp 1151.77 0/1 99 103 57 46 0.45 intronic rs2581786 RFT1 AR NM_052859 exon1 c.168+57G>A 0.490216 0.746 Uncertain 3_53126673_TGCCCTGGACAAGGC->- 3 53126673 53126687 TGCCCTGGACAAGGC - indel 2776.73 0/1 99 50 25 25 0.5 intronic rs141077598 RFT1 AR NM_052859 exon2 c.716+39_716+53delTGCCCTGGACAAGGC 0.197484 0.1349 0.268671 0.2652 0.1176 Uncertain 3_53133526_A->G 3 53133526 53133526 A G snp 1045.77 0/1 99 75 34 41 0.55 intronic rs2581829 RFT1 AR NM_052859 exon3 c.7584+24A>G 0.521166 0.747 0.491773 0.5903 0.7461 Uncertain 3_53139506_C->T 3 53139506 53139506 C T snp 157.77 0/1 63 8 2 6 0.75 intronic rs2564942 RFT1 AR NM_052859 exon5 c.13770-182C>T 0.519569 0.7411 Uncertain 3_53139507_A->G 3 53139507 53139507 A G snp 198.77 0/1 60 8 2 6 0.75 intronic rs2581774 RFT1 AR NM_052859 exon5 c.13770-181A>G 0.520168 0.7421 Uncertain 3_53154143_T->G 3 53154143 53154143 T G snp 46.77 0/1 31 3 1 2 0.67 intronic rs200210204 RFT1 AR NM_052859 exon8 c.28119+106T>G Uncertain 3_53160132_T->C 3 53160132 53160132 T C snp 148.77 0/1 55 7 2 5 0.71 intronic rs9867023 RFT1 AR NM_052859 exon12 c.34092+122T>C 0.194888 0.1359 Uncertain 3_53212574_C->G 3 53212574 53212574 C G snp 1723.77 1/1 99 71 0 71 1.0 intronic PRKCD AR NM_212539 exon2 c.115+21C>G 0.565895 0.7341 0.551976 0.6601 0.7578 Uncertain 3_53213538_C->G 3 53213538 53213538 C G snp 7052.77 1/1 99 250 0 250 1.0 intronic PRKCD AR NM_212539 exon3 c.1154-54C>G 0.906749 0.995 0.879316 0.9483 0.9965 Uncertain 3_53213815_-->GTGT 3 53213815 53213815 - GTGT indel 1131.73 1/1 60 39 0 39 1.0 intronic PRKCD AR NM_212539 exon3 c.1354+23insGTGT 0.634784 0.8968 0.4879 0.5693 Uncertain 3_53215875_A->C 3 53215875 53215875 A C snp 3046.77 1/1 99 107 0 107 1.0 intronic PRKCD AR NM_212539 exon6 c.3310+127A>C 0.511382 0.7153 0.6407 0.7688 Uncertain 3_53216051_T->C 3 53216051 53216051 T C snp 354.78 1/1 27 11 0 11 1.0 intronic rs6445568 PRKCD AR NM_212539 exon6 c.3310+303T>C 0.979433 1 0.9949 1 Uncertain 3_53217413_A->G 3 53217413 53217413 A G snp 1989.77 0/1 99 184 103 81 0.44 intronic PRKCD AR NM_212539 exon8 c.5029-54A>G 0.201078 0.2063 Uncertain 3_53220444_T->C 3 53220444 53220444 T C snp 1130.77 1/1 84 30 0 30 1.0 intronic PRKCD AR NM_212539 exon12 c.7918+88T>C 0.940495 1 Uncertain 3_53220473_-->C 3 53220473 53220473 - C indel 601.73 1/1 57 23 0 23 1.0 intronic PRKCD AR NM_212539 exon12 c.7918+117insC Uncertain 3_53222761_C->T 3 53222761 53222761 C T snp 4892.77 1/1 99 188 1 187 0.99 exonic PRKCD AR synonymous SNV NM_006254 exon16 c.C1441T p.L481L 0.713458 0.7639 0.758265 0.7480 0.7904 Uncertain 3_53222925_C->T 3 53222925 53222925 C T snp 327.77 0/1 99 29 16 13 0.45 intronic PRKCD AR NM_212539 exon15 c.10436+51C>T Uncertain 3_53223291_T->G 3 53223291 53223291 T G snp 1814.77 1/1 99 69 0 69 1.0 intronic PRKCD AR NM_212539 exon16 c.10824+29T>G 0.910144 1 0.931078 0.8596 0.8892 Uncertain 3_53223927_C->G 3 53223927 53223927 C G snp 4016.77 1/1 99 150 0 150 1.0 exonic PRKCD AR synonymous SNV NM_006254 exon18 c.C1782G p.T594T 0.901957 0.9653 0.933492 0.9655 0.9683 Uncertain 3_53224002_T->C 3 53224002 53224002 T C snp 3858.77 1/1 99 138 0 138 1.0 exonic PRKCD AR synonymous SNV NM_006254 exon18 c.T1857C p.P619P 0.940495 1 0.939259 0.9835 1 Uncertain 3_53259996_G->A 3 53259996 53259996 G A snp 40.77 0/1 69 6 4 2 0.33 intronic TKT AR NM_001064 exon1 c.176+49G>A 0.435304 0.6032 0.366062 0.4416 0.5975 Uncertain 3_53260710_G->A 3 53260710 53260710 G A snp 329.77 0/1 99 28 15 13 0.46 intronic TKT AR NM_001064 exon2 c.1000-61G>A 0.278554 0.5546 Uncertain 3_53260716_C->T 3 53260716 53260716 C T snp 367.77 0/1 99 30 16 14 0.47 intronic TKT AR NM_001064 exon2 c.1000-55C>T 0.436502 0.6032 Uncertain 3_53262867_G->A 3 53262867 53262867 G A snp 135.03 1/1 12 4 0 4 1.0 intronic TKT AR NM_001064 exon5 c.3251-155G>A 0.957867 1 Uncertain 3_53263200_C->G 3 53263200 53263200 C G snp 1954.77 0/1 99 157 84 73 0.46 intronic TKT AR NM_001064 exon5 c.3382+47C>G 0.30651 0.5456 0.183223 0.2471 0.5446 Uncertain 3_53263279_A->G 3 53263279 53263279 A G snp 1463.77 0/1 99 155 88 67 0.43 intronic TKT AR NM_001064 exon6 c.3524-16A>G 0.600639 0.752 0.534061 0.6221 0.7145 Uncertain 3_53267133_G->C 3 53267133 53267133 G C snp 2538.77 1/1 99 87 0 87 1.0 intronic TKT AR NM_001064 exon9 c.7400-38G>C 0.957867 1 0.959403 0.9883 0.9997 Uncertain 3_53267155_G->A 3 53267155 53267155 G A snp 1310.77 0/1 99 115 62 53 0.46 intronic TKT AR NM_001064 exon9 c.7400-16G>A 0.434904 0.5923 0.367215 0.4407 0.5799 Uncertain 3_53324820_TGGCAC->- 3 53324820 53324825 TGGCAC - indel 3893.73 1/1 99 46 0 46 1.0 splicing rs201612547 DCP1A AU NM_001290205 exon3 c.3228-5_3228+0delTGGCAC 0.994409 1 0.994848 0.9986 0.9999 Pathogenic 3_53324915_A->G 3 53324915 53324915 A G snp 753.77 0/1 99 85 46 39 0.46 intronic rs3732834 DCP1A AU NM_001290205 exon3 c.3289+29A>G 0.673722 0.7202 0.641685 0.6755 0.7132 Uncertain 3_53529013_T->A 3 53529013 53529013 T A snp 46.74 1/1 6 3 0 3 1.0 upstream rs312479 CACNA1D AR,AD 0.963059 0.9891 Uncertain 3_53529140_T->C 3 53529140 53529140 T C snp 1590.77 1/1 99 57 0 57 1.0 UTR5 rs312480 CACNA1D AR,AD 0.859425 0.9633 Uncertain 3_53685039_T->C 3 53685039 53685039 T C snp 2717.77 1/1 99 98 1 97 0.99 intronic rs2276836 CACNA1D AR,AD NM_001128839 exon4 c.155752+94T>C 0.335663 0.5823 Uncertain 3_53699533_C->T 3 53699533 53699533 C T snp 143.77 0/1 99 15 9 6 0.4 intronic rs17030969 CACNA1D AR,AD NM_001128839 exon6 c.170493-153C>T 0.0391374 0.1121 Uncertain 3_53700550_T->C 3 53700550 53700550 T C snp 3327.77 1/1 99 123 0 123 1.0 exonic rs2250736 CACNA1D AR,AD synonymous SNV NM_000720 exon7 c.T1104C p.D368D 0.70647 0.6548 0.647470 0.5945 0.6232 1.000 P -1.106 T Likely benign 3_53744327_C->G 3 53744327 53744327 C G snp 676.77 0/1 99 47 23 24 0.51 intronic rs3774546 CACNA1D AR,AD NM_001128839 exon9 c.207644+7490C>G 0.205471 0.376 Uncertain 3_53758049_G->A 3 53758049 53758049 G A snp 1582.77 0/1 99 138 77 61 0.44 intronic rs2070617 CACNA1D AR,AD NM_001128839 exon14 c.228833+23G>A 0.282548 0.4782 0.135245 0.2125 0.4775 Uncertain 3_53766026_T->C 3 53766026 53766026 T C snp 2936.77 1/1 99 106 0 106 1.0 intronic rs2612033 CACNA1D AR,AD NM_001128839 exon18 c.236849-16T>C 0.910942 1 0.867061 0.8887 0.9999 Uncertain 3_53766212_A->T 3 53766212 53766212 A T snp 304.78 1/1 24 8 0 8 1.0 intronic rs2306866 CACNA1D AR,AD NM_001128839 exon18 c.236916+103A>T 0.666334 0.8958 Uncertain 3_53769479_C->T 3 53769479 53769479 C T snp 2917.77 0/1 99 241 121 120 0.5 exonic rs1045958 CACNA1D AR,AD synonymous SNV NM_000720 exon21 c.C2760T p.S920S 0.192292 0.2153 0.254498 0.2994 0.2214 Uncertain 3_53776872_T->G 3 53776872 53776872 T G snp 172.9 1/1 15 5 0 5 1.0 intronic rs2577328 CACNA1D AR,AD NM_001128839 exon22 c.247844-165T>G 0.803115 0.999 Uncertain 3_53776995_T->C 3 53776995 53776995 T C snp 2819.77 1/1 99 100 0 100 1.0 intronic rs2612026 CACNA1D AR,AD NM_001128839 exon22 c.247844-42T>C 0.802915 1 0.753037 0.8420 0.9999 Uncertain 3_53777176_T->C 3 53777176 53777176 T C snp 1257.77 0/1 99 89 40 49 0.55 intronic rs2680648 CACNA1D AR,AD NM_001128839 exon22 c.247951+32T>C 0.182109 0.3036 0.186760 0.2240 0.2928 Uncertain 3_53779580_G->C 3 53779580 53779580 G C snp 431.77 1/1 33 11 0 11 1.0 intronic rs2612024 CACNA1D AR,AD NM_001128839 exon24 c.250457-70G>C 0.802316 1 Uncertain 3_53779776_A->G 3 53779776 53779776 A G snp 1875.77 0/1 99 177 96 81 0.46 intronic rs17053453 CACNA1D AR,AD NM_001128839 exon24 c.250565+18A>G 0.0710863 0.0873 0.070506 0.0739 0.1124 Uncertain 3_53780082_A->G 3 53780082 53780082 A G snp 50.74 1/1 6 2 0 2 1.0 intronic rs2577326 CACNA1D AR,AD NM_001128839 exon25 c.250709+180A>G 0.798722 1 Uncertain 3_53806803_G->C 3 53806803 53806803 G C snp 1068.77 0/1 99 93 50 43 0.46 intronic rs2278517 CACNA1D AR,AD NM_001128839 exon32 c.277666-56G>C 0.545927 0.3323 Uncertain 3_53814197_G->A 3 53814197 53814197 G A snp 1557.77 1/1 77 54 1 53 0.98 intronic rs1829423 CACNA1D AR,AD NM_001128839 exon37 c.284962+42G>A 0.550319 0.4435 0.669383 0.6217 0.4396 Uncertain 3_53815865_G->A 3 53815865 53815865 G A snp 71.77 0/1 99 9 6 3 0.33 intronic rs11707420 CACNA1D AR,AD NM_001128839 exon38 c.286501+171G>A 0.516573 0.3105 Uncertain 3_53856653_C->T 3 53856653 53856653 C T snp 4212.77 1/1 99 148 0 148 1.0 exonic rs2241808 CHDH AU synonymous SNV NM_018397 exon4 c.G720A p.A240A 0.442692 0.5655 0.438413 0.5053 0.5655 Uncertain 3_53857803_A->C 3 53857803 53857803 A C snp 2677.77 1/1 99 95 0 95 1.0 exonic rs12676 CHDH AU nonsynonymous SNV NM_018397 exon3 c.T233G p.L78R 0.865815 0.998 0.772165 0.7981 0.9979 0.36 T 0.0 P -0.926 T 0.002 T 0.002 T ID=CM088416;DIS=Breast cancer, association with;TAG=DFP;PUB=18230680 DFP Pathogenic 3_53880789_A->G 3 53880789 53880789 A G snp 1132.77 1/1 81 42 0 42 1.0 intronic rs2232332 IL17RB AU NM_018725 exon1 c.60+114A>G 0.941893 0.9196 Uncertain 3_53882663_G->A 3 53882663 53882663 G A snp 7537.77 1/1 99 249 1 248 1.0 intronic rs1025690 IL17RB AU NM_018725 exon2 c.2075-27G>A 0.824281 0.9187 0.743272 0.7319 0.9337 Uncertain 3_53882673_-->T 3 53882673 53882673 - T indel 8090.73 1/1 99 250 0 250 1.0 intronic rs397764175 IL17RB AU NM_018725 exon2 c.2075-17insT 0.941494 0.9196 0.9568 0.9345 Uncertain 3_53890787_G->A 3 53890787 53890787 G A snp 815.77 1/1 60 23 0 23 1.0 intronic rs3821867 IL17RB AU NM_018725 exon7 c.10255-83G>A 0.66853 0.9444 Uncertain 3_53891123_A->G 3 53891123 53891123 A G snp 59.74 1/1 6 3 0 3 1.0 intronic rs2276841 IL17RB AU NM_018725 exon7 c.10398+110A>G 0.253594 0.3433 Uncertain 3_53892553_C->T 3 53892553 53892553 C T snp 712.77 1/1 54 19 0 19 1.0 intronic rs13315972 IL17RB AU NM_018725 exon9 c.12130-192C>T 0.686901 0.9444 Uncertain 3_53892641_T->G 3 53892641 53892641 T G snp 3588.77 1/1 99 125 0 125 1.0 intronic rs9840079 IL17RB AU NM_018725 exon9 c.12130-104T>G 0.686901 0.9444 Uncertain 3_53893994_G->A 3 53893994 53893994 G A snp 50.74 1/1 6 2 0 2 1.0 intronic rs3733077 IL17RB AU NM_018725 exon10 c.13541-162G>A 0.0972444 0.2143 Uncertain 3_53899276_C->T 3 53899276 53899276 C T snp 2245.77 1/1 99 75 0 75 1.0 exonic rs1043261 IL17RB AU stopgain NM_018725 exon11 c.C1450T p.Q484X 0.135184 0.2133 0.083961 0.0993 0.1837 0.53 T 1.000 P ID=CM067684;DIS=Lung cancer, susceptibility to, association with;TAG=DP;PUB=16741161 DP Pathogenic 3_53905308_T->C 3 53905308 53905308 T C snp 4101.77 1/1 99 144 0 144 1.0 exonic rs1046677 ACTR8 AU synonymous SNV NM_022899 exon11 c.A1518G p.G506G 0.692292 0.9444 0.518837 0.5546 0.9464 1.000 P -1.029 T Likely benign 3_53906334_C->A 3 53906334 53906334 C A snp 2273.77 1/1 99 76 0 76 1.0 intronic rs2289204 ACTR8 AU NM_022899 exon4 c.3665-76C>A 0.147165 0.247 Uncertain 3_53906513_G->A 3 53906513 53906513 G A snp 3309.77 1/1 99 122 0 122 1.0 exonic rs4687757 ACTR8 AU synonymous SNV NM_022899 exon10 c.C1200T p.I400I 0.690296 0.9444 0.517069 0.5540 0.9464 1.0 P -1.044 T Likely benign 3_53910109_-->G 3 53910109 53910109 - G indel 2689.73 1/1 99 123 5 118 0.96 splicing rs370490982 ACTR8 AU NM_022899 exon7 c.7362+2insG 0.443859 0.1248 0.2240 Pathogenic 3_53910122_G->A 3 53910122 53910122 G A snp 2810.77 1/1 99 89 0 89 1.0 intronic rs62752960 ACTR8 AU NM_022899 exon7 c.7362+15G>A 0.307308 0.381 0.3641 0.6034 Uncertain 3_53910900_A->- 3 53910900 53910900 A - indel 615.73 1/1 66 30 0 30 1.0 intronic rs5849013 ACTR8 AU NM_022899 exon8 c.7995+160delA 0.688299 0.9405 Uncertain 3_53910919_-->T 3 53910919 53910919 - T indel 109.87 1/1 15 17 0 17 1.0 intronic rs11419180 ACTR8 AU NM_022899 exon8 c.7995+179insT 0.981829 0.9911 Uncertain 3_53912341_C->A 3 53912341 53912341 C A snp 3998.77 1/1 99 135 0 135 1.0 intronic rs3733081 ACTR8 AU NM_022899 exon11 c.9638-42C>A 0.711062 0.9444 0.533907 0.5588 0.9464 Uncertain 3_53916316_A->T 3 53916316 53916316 A T snp 50.74 1/1 6 2 0 2 1.0 upstream rs2276846 ACTR8 AU 0.688698 0.9435 Uncertain 3_53921028_T->G 3 53921028 53921028 T G snp 2225.77 1/1 99 85 1 84 0.99 intronic rs10440151 SELK AU NM_021237 exon3 c.1377+67T>G 0.689097 0.9435 Uncertain 3_53922620_A->G 3 53922620 53922620 A G snp 4314.77 1/1 99 154 0 154 1.0 intronic rs3816144 SELK AU NM_021237 exon4 c.2926+110A>G 0.697684 0.9435 Uncertain 3_53925775_C->T 3 53925775 53925775 C T snp 7123.77 1/1 99 250 0 250 1.0 intronic rs2276847 SELK AU NM_021237 exon5 c.6212-21C>T 0.142772 0.247 0.070433 0.0898 0.2200 Uncertain 3_53925849_C->T 3 53925849 53925849 C T snp 6863.77 1/1 99 249 0 249 1.0 UTR5 rs2276848 SELK AU 0.172923 0.247 0.113256 0.1310 0.2199 Uncertain 3_53926017_T->C 3 53926017 53926017 T C snp 550.77 1/1 42 14 0 14 1.0 upstream rs1992155 SELK AU 0.682508 0.9435 Uncertain 3_54157710_A->T 3 54157710 54157710 A T snp 701.77 0/1 99 53 26 27 0.51 intronic rs2290132 CACNA2D3 AU NM_018398 exon2 c.881+89A>T 0.25619 0.1895 Uncertain 3_54354431_G->T 3 54354431 54354431 G T snp 1654.77 0/1 99 168 99 69 0.41 intronic rs41277447 CACNA2D3 AU NM_018398 exon3 c.197728-37G>T 0.126198 0.1716 0.099274 0.1492 0.1457 Uncertain 3_54354510_T->C 3 54354510 54354510 T C snp 1648.77 0/1 99 182 110 72 0.4 exonic rs9879885 CACNA2D3 AU synonymous SNV NM_018398 exon3 c.T246C p.I82I 0.653355 0.6042 0.716523 0.7252 0.6563 Uncertain 3_54419704_G->A 3 54419704 54419704 G A snp 99.28 1/1 9 3 0 3 1.0 intronic rs9835975 CACNA2D3 AU NM_018398 exon4 c.264001-1037G>A 0.881989 0.8522 Uncertain 3_54420722_T->- 3 54420722 54420722 T - indel 273.73 0/1 99 86 42 44 0.51 intronic rs532916566 CACNA2D3 AU NM_018398 exon4 c.264001-19delT 0.339856 0.2956 0.2737 0.1907 Uncertain 3_54537866_G->A 3 54537866 54537866 G A snp 167.9 1/1 15 5 0 5 1.0 intronic rs7430102 CACNA2D3 AU NM_018398 exon5 c.380941+185G>A 0.150559 0.2698 Uncertain 3_54596815_T->C 3 54596815 54596815 T C snp 2221.77 0/1 99 183 87 96 0.52 intronic rs9814659 CACNA2D3 AU NM_018398 exon6 c.440086-11T>C 0.246805 0.1825 0.301326 0.2731 0.1799 Uncertain 3_54604188_T->C 3 54604188 54604188 T C snp 661.77 0/1 99 38 17 21 0.55 intronic rs2251788 CACNA2D3 AU NM_018398 exon8 c.447391+57T>C 0.520567 0.4534 Uncertain 3_54615971_A->G 3 54615971 54615971 A G snp 633.77 0/1 99 56 31 25 0.45 intronic rs6782115 CACNA2D3 AU NM_018398 exon9 c.459164+67A>G 0.352436 0.2758 Uncertain 3_54676442_A->- 3 54676442 54676442 A - indel 98.73 0/1 99 17 11 6 0.35 intronic rs3832224 CACNA2D3 AU NM_018398 exon11 c.519528+174delA 0.684904 0.6032 Uncertain 3_54798258_G->A 3 54798258 54798258 G A snp 5709.77 1/1 99 217 0 217 1.0 exonic rs3732748 CACNA2D3 AU synonymous SNV NM_018398 exon13 c.G1260A p.Q420Q 0.391973 0.4812 0.396586 0.4626 0.4782 Uncertain 3_54872573_A->G 3 54872573 54872573 A G snp 2104.77 0/1 99 144 67 77 0.53 intronic rs144726552 CACNA2D3 AU NM_018398 exon16 c.715854-21A>G 0.00219649 0.0109 0.0008 0.0097 Uncertain 3_54880461_A->G 3 54880461 54880461 A G snp 2496.77 0/1 99 220 118 102 0.46 exonic rs3773603 CACNA2D3 AU synonymous SNV NM_018398 exon17 c.A1593G p.G531G 0.167133 0.1786 0.169421 0.2374 0.2234 Uncertain 3_54905685_C->G 3 54905685 54905685 C G snp 942.77 0/1 99 66 27 39 0.59 intronic rs1882317 CACNA2D3 AU NM_018398 exon18 c.748909+36C>G 0.134585 0.0923 0.089811 0.0583 0.1000 Uncertain 3_54913355_T->- 3 54913355 54913355 T - indel 186.73 0/1 99 25 10 15 0.6 ncRNA_intronic rs35536476 CACNA2D3-AS1 AU 0.583866 0.7887 0.4826 0.5233 Uncertain 3_54914996_A->G 3 54914996 54914996 A G snp 494.77 0/1 99 23 9 14 0.61 ncRNA_intronic rs9866865 CACNA2D3-AS1 AU 0.120607 0.0685 Uncertain 3_54919185_A->G 3 54919185 54919185 A G snp 213.77 0/1 99 15 8 7 0.47 ncRNA_intronic rs11716356 CACNA2D3-AS1 AU 0.203674 0.0645 Uncertain 3_54919272_A->G 3 54919272 54919272 A G snp 2859.77 1/1 99 98 1 97 0.99 ncRNA_intronic rs1405330 CACNA2D3-AS1 AU 0.851837 0.8829 0.761987 0.7596 0.8752 Uncertain 3_54919480_G->A 3 54919480 54919480 G A snp 2046.77 0/1 99 128 53 75 0.59 ncRNA_intronic rs2293662 CACNA2D3-AS1 AU 0.122404 0.0625 0.134207 0.1262 0.0771 Uncertain 3_54928496_T->C 3 54928496 54928496 T C snp 1949.77 1/1 99 64 0 64 1.0 ncRNA_intronic rs1526595 CACNA2D3-AS1 AU 0.744609 0.872 Uncertain 3_54961949_C->T 3 54961949 54961949 C T snp 1580.77 0/1 99 144 73 71 0.49 UTR5 rs4245920 LRTM1 AU 0.796526 0.8512 0.723820 0.7326 0.8453 Uncertain 3_54962013_A->C 3 54962013 54962013 A C snp 735.77 0/1 99 60 33 27 0.45 UTR5 rs56327704 LRTM1 AU 0.49381 0.75 0.369908 Uncertain 3_55003733_G->T 3 55003733 55003733 G T snp 1638.77 0/1 99 121 51 70 0.58 intronic rs881820 CACNA2D3 AU NM_018398 exon29 c.847086-93G>T 0.395567 0.5565 Uncertain 3_55018520_T->C 3 55018520 55018520 T C snp 159.77 0/1 63 8 3 5 0.63 intronic rs2360664 CACNA2D3 AU NM_018398 exon30 c.861894-114T>C 0.327077 0.3234 Uncertain 3_55018619_-->G 3 55018619 55018619 - G indel 1152.73 0/1 99 49 18 31 0.63 intronic rs56055307 CACNA2D3 AU NM_018398 exon30 c.861894-15insG 0.206669 0.3224 0.151188 0.2156 0.4339 Uncertain 3_55021556_G->C 3 55021556 55021556 G C snp 978.77 0/1 99 106 65 41 0.39 intronic rs2280186 CACNA2D3 AU NM_018398 exon31 c.864969-153G>C 0.334864 0.3323 Uncertain 3_55038898_A->G 3 55038898 55038898 A G snp 4129.77 1/1 99 147 1 146 0.99 intronic rs4955827 CACNA2D3 AU NM_018398 exon32 c.882125+33A>G 0.987819 0.999 0.976336 0.9767 0.9994 Uncertain 3_55041723_G->T 3 55041723 55041723 G T snp 838.77 0/1 99 56 23 33 0.59 intronic rs2280187 CACNA2D3 AU NM_018398 exon33 c.885076-93G>T 0.138379 0.1954 Uncertain 3_55043613_G->C 3 55043613 55043613 G C snp 135.03 1/1 12 4 0 4 1.0 intronic rs3773570 CACNA2D3 AU NM_018398 exon34 c.886730+143G>C 0.64976 0.372 Uncertain 3_55108055_G->A 3 55108055 55108055 G A snp 2114.77 1/1 99 57 0 57 1.0 intronic rs358076 CACNA2D3 AU NM_018398 exon38 c.951400-85G>A 0.840855 0.9544 Uncertain 3_55504730_A->G 3 55504730 55504730 A G snp 77.77 0/1 69 5 2 3 0.6 intronic rs7622120 WNT5A AD NM_003392 exon1 c.459+152A>G 0.550919 0.3085 Uncertain 3_55733390_C->T 3 55733390 55733390 C T snp 338.77 0/1 99 17 7 10 0.59 intronic rs4955865 ERC2 AU NM_015576 exon3 c.15545-15C>T 0.344449 0.369 0.319977 0.3715 0.3964 Uncertain 3_55768688_G->C 3 55768688 55768688 G C snp 143.03 1/1 12 5 0 5 1.0 intronic rs815451 ERC2 AU NM_015576 exon4 c.50938-110G>C 0.843051 0.7966 Uncertain 3_55989277_TGTGTGTGTGTG->- 3 55989277 55989288 TGTGTGTGTGTG - indel 7333.73 1/1 99 134 0 134 1.0 intronic rs140781604 ERC2 AU NM_015576 exon6 c.266734+4683_266734+4694delTGTGTGTGTGTG 0.816494 0.87 Uncertain 3_56019805_T->C 3 56019805 56019805 T C snp 329.77 0/1 99 16 6 10 0.63 intronic rs6806267 ERC2 AU NM_015576 exon7 c.308224-6279T>C 0.697085 0.7877 Uncertain 3_56019905_C->A 3 56019905 56019905 C A snp 1448.77 0/1 99 111 48 63 0.57 intronic rs6445762 ERC2 AU NM_015576 exon7 c.308224-6179C>A 0.714457 0.7877 Uncertain 3_56020159_G->A 3 56020159 56020159 G A snp 115.77 0/1 99 10 5 5 0.5 intronic rs7613818 ERC2 AU NM_015576 exon7 c.308224-5925G>A 0.498802 0.6736 Uncertain 3_56037025_-->AT 3 56037025 56037025 - AT indel 2708.73 0/1 99 151 89 62 0.41 intronic rs3076643 ERC2 AU NM_015576 exon8 c.323348-4183insAT 0.76258 0.8095 Uncertain 3_56037242_A->- 3 56037242 56037242 A - indel 2958.73 1/1 99 96 0 96 1.0 intronic rs35658351 ERC2 AU NM_015576 exon8 c.323348-3966delA 1 1 Uncertain 3_56037249_-->G 3 56037249 56037249 - G indel 3233.06 1/1 99 73 0 73 1.0 intronic rs34984094 ERC2 AU NM_015576 exon8 c.323348-3959insG 0.481829 0.4792 Uncertain 3_56114750_G->A 3 56114750 56114750 G A snp 505.77 0/1 99 31 16 15 0.48 intronic rs17825159 ERC2 AU NM_015576 exon11 c.396984-94G>A 0.198083 0.1736 Uncertain 3_56591178_A->G 3 56591178 56591178 A G snp 316.77 0/1 99 25 12 13 0.52 upstream rs73079891 CCDC66 AU 0.191294 0.0486 0.378230 Uncertain 3_56591278_-->GGGGTAAGCA 3 56591278 56591278 - GGGGTAAGCA indel 9693.73 1/1 99 99 1 98 0.99 exonic rs150150392 CCDC66 AU stopgain NM_001141947 exon1 c.8_9insGGGGTAAGCA p.L3_G4delinsLGX 0.649561 0.5407 0.736718 0.6881 0.5566 Pathogenic 3_56593543_C->A 3 56593543 56593543 C A snp 656.77 1/1 48 24 0 24 1.0 intronic rs12486047 CCDC66 AU NM_001141947 exon3 c.2326-53C>A 0.650359 0.5417 Uncertain 3_56593680_T->C 3 56593680 56593680 T C snp 1780.77 1/1 99 70 1 69 0.99 intronic rs11130525 CCDC66 AU NM_001141947 exon3 c.2352+58T>C 0.757588 0.624 Uncertain 3_56595153_T->C 3 56595153 56595153 T C snp 499.77 0/1 99 25 7 18 0.72 intronic rs17825529 CCDC66 AU NM_001141947 exon3 c.2352+1531T>C 0.0603035 0.0327 Uncertain 3_56597688_A->G 3 56597688 56597688 A G snp 540.77 0/1 99 40 15 25 0.63 intronic rs6781293 CCDC66 AU NM_001141947 exon4 c.6441-23A>G 0.191494 0.0496 0.377958 0.3757 0.0409 Uncertain 3_56597693_G->C 3 56597693 56597693 G C snp 345.77 0/1 99 41 25 16 0.39 intronic rs71309962 CCDC66 AU NM_001141947 exon4 c.6441-18G>C 0.0603035 0.0327 0.080193 0.1068 0.0390 Uncertain 3_56597954_C->T 3 56597954 56597954 C T snp 4168.77 1/1 99 155 0 155 1.0 exonic rs6769055 CCDC66 AU synonymous SNV NM_001012506 exon4 c.C243T p.T81T 0.650759 0.5417 0.773182 0.7571 0.5516 Uncertain 3_56599159_T->C 3 56599159 56599159 T C snp 1117.77 0/1 99 102 49 53 0.52 intronic rs73081810 CCDC66 AU NM_001141947 exon4 c.6883+1006T>C 0.215056 0.0486 0.3413 0.0354 Uncertain 3_56599208_G->C 3 56599208 56599208 G C snp 849.77 0/1 99 69 30 39 0.57 intronic rs55831745 CCDC66 AU NM_001141947 exon4 c.6883+1055G>C 0.214856 0.0486 0.3411 0.0354 Uncertain 3_56599258_-->TATT 3 56599258 56599258 - TATT indel 1787.73 1/1 81 32 0 32 1.0 intronic rs10687224 CCDC66 AU NM_001141947 exon4 c.6883+1105insTATT 0.650559 0.5417 Uncertain 3_56600531_G->A 3 56600531 56600531 G A snp 88.28 1/1 9 3 0 3 1.0 intronic rs10865997 CCDC66 AU NM_001141947 exon5 c.9351-90G>A 0.650759 0.5427 Uncertain 3_56601044_G->A 3 56601044 56601044 G A snp 1977.77 0/1 99 160 75 85 0.53 exonic rs71309963 CCDC66 AU synonymous SNV NM_001012506 exon6 c.G675A p.S225S 0.0367412 0.0337 0.034753 0.0370 0.0372 Uncertain 3_56601175_T->C 3 56601175 56601175 T C snp 143.77 0/1 99 15 10 5 0.33 intronic rs112310084 CCDC66 AU NM_001141947 exon6 c.9811+94T>C 0.215056 0.0486 Uncertain 3_56627048_A->G 3 56627048 56627048 A G snp 759.77 1/1 54 30 0 30 1.0 exonic rs1388256 CCDC66 AU synonymous SNV NM_001012506 exon8 c.A885G p.Q295Q 0.736022 0.625 0.839689 0.8215 0.6603 Uncertain 3_56627598_A->G 3 56627598 56627598 A G snp 4188.77 1/1 99 150 0 150 1.0 exonic rs1491170 CCDC66 AU nonsynonymous SNV NM_001012506 exon9 c.A1046G p.Q349R 0.960264 1 0.954098 0.9873 1 0.74 T 0.000 P -1.042 T 0.0 T 0.0 T Pathogenic 3_56628031_G->A 3 56628031 56628031 G A snp 3040.77 0/1 99 244 121 123 0.5 exonic rs7637449 CCDC66 AU nonsynonymous SNV NM_001012506 exon10 c.G1277A p.R426Q 0.215056 0.0486 0.407427 0.3961 0.0383 0.01 T 1.0 P -0.870 T 1.0 D 0.999 D Pathogenic 3_56628226_A->T 3 56628226 56628226 A T snp 93.28 1/1 9 3 0 3 1.0 intronic rs73081854 CCDC66 AU NM_001141947 exon10 c.36786+170A>T 0.215256 0.0486 Uncertain 3_56647799_T->C 3 56647799 56647799 T C snp 381.77 0/1 99 35 20 15 0.43 intronic rs17216685 CCDC66 AU NM_001141947 exon11 c.56508+21T>C 0.329673 0.4077 0.225204 0.2341 0.3782 Uncertain 3_56649282_C->T 3 56649282 56649282 C T snp 2151.77 0/1 99 163 72 91 0.56 exonic rs6807338 CCDC66 AU synonymous SNV NM_001012506 exon12 c.C1591T p.L531L 0.0652955 0.0347 0.051592 0.0487 0.0378 Uncertain 3_56649320_TTTA->- 3 56649320 56649323 TTTA - indel 2882.73 0/1 99 92 30 62 0.67 intronic rs36051378 CCDC66 AU NM_001141947 exon12 c.58030+20_58030+23delTTTA 0.0371406 0.0327 0.035149 0.0381 0.0385 Uncertain 3_56650012_G->A 3 56650012 56650012 G A snp 811.77 0/1 99 70 29 41 0.59 exonic rs4681904 CCDC66 AU nonsynonymous SNV NM_001012506 exon13 c.G1672A p.E558K 0.0365415 0.0327 0.0371 0.0370 0.54 T 0.999 N -1.024 T 0.033 T 0.04 T Pathogenic 3_56650051_-->CTT 3 56650051 56650051 - CTT indel 1681.73 0/1 99 65 28 37 0.57 exonic rs112267342 CCDC66 AU nonframeshift insertion NM_001012506 exon13 c.1711_1712insCTT p.T571delinsTS 0.590291 0.4186 0.7024 ID=COSM1745435,COSM1745436;OCCURENCE=1(urinary_tract) Uncertain 3_56650178_A->G 3 56650178 56650178 A G snp 65.77 0/1 94 12 9 3 0.25 intronic rs9833926 CCDC66 AU NM_001141947 exon13 c.58811+97A>G 0.784744 0.9514 Uncertain 3_56653610_GT->- 3 56653610 56653611 GT - indel 2820.73 0/1 99 131 63 68 0.52 intronic rs10534869 CCDC66 AU NM_001141947 exon16 c.62285+55_62285+56delGT 0.784944 0.9514 Uncertain 3_56657197_T->C 3 56657197 56657197 T C snp 315.77 0/1 99 30 18 12 0.4 exonic rs3732506 FAM208A AU synonymous SNV NM_015224 exon17 c.A3570G p.S1190S 0.0367412 0.0337 0.034759 0.0370 0.0368 Uncertain 3_56667682_G->C 3 56667682 56667682 G C snp 2987.77 0/1 99 249 129 120 0.48 exonic rs9835332 FAM208A AU nonsynonymous SNV NM_015224 exon11 c.C1826G p.T609R 0.784345 0.9514 0.591573 0.6031 0.9620 0.83 T 0.0 P -1.033 T 0.0 T 0.001 T Pathogenic 3_56672608_G->C 3 56672608 56672608 G C snp 259.77 0/1 99 15 6 9 0.6 intronic rs4681945 FAM208A AU NM_001112736 exon8 c.14918-125G>C 0.784345 0.9514 Uncertain 3_56674190_A->C 3 56674190 56674190 A C snp 987.77 1/1 72 33 0 33 1.0 intronic rs1489949 FAM208A AU NM_001112736 exon9 c.16343+32A>C 0.980831 1 0.954238 0.9543 1 Uncertain 3_56675265_G->A 3 56675265 56675265 G A snp 1027.77 0/1 99 98 57 41 0.42 intronic rs13089332 FAM208A AU NM_001112736 exon10 c.17561-111G>A 0.0347444 0.0159 Uncertain 3_56682841_A->C 3 56682841 56682841 A C snp 545.77 0/1 99 39 14 25 0.64 intronic rs71621834 FAM208A AU NM_001112736 exon12 c.25034-8A>C 0.038139 0.0327 0.036561 0.0415 0.0395 Uncertain 3_56695060_T->A 3 56695060 56695060 T A snp 116.77 0/1 99 9 5 4 0.44 intronic rs7619465 FAM208A AU NM_001112736 exon15 c.37230+15T>A 0.784345 0.9514 0.566841 0.6113 0.9618 Uncertain 3_56700181_A->- 3 56700181 56700181 A - indel 323.73 0/1 99 34 16 18 0.53 intronic rs34101168 FAM208A AU NM_001112736 exon18 c.42472-106delA 0.508786 0.5704 Uncertain 3_56705506_T->A 3 56705506 56705506 T A snp 155.77 0/1 99 10 5 5 0.5 intronic rs79269754 FAM208A AU NM_001112736 exon22 c.47812-121T>A 0.0365415 0.0327 Uncertain 3_56716922_T->G 3 56716922 56716922 T G snp 2376.77 0/1 99 224 121 103 0.46 exonic rs958755 FAM208A AU nonsynonymous SNV NM_001112736 exon1 c.A113C p.Q38P 0.784345 0.9514 0.570700 0.6587 0.9629 0.35 T 0.000 P -1.046 T 0.0 T 0.0 T Pathogenic 3_56763228_T->C 3 56763228 56763228 T C snp 207.77 0/1 99 17 10 7 0.41 UTR3 rs1009119 ARHGEF3 AU 0.245607 0.3442 Uncertain 3_56763316_G->A 3 56763316 56763316 G A snp 2086.77 0/1 99 144 65 79 0.55 exonic rs1565376 ARHGEF3 AU synonymous SNV NM_001128616 exon10 c.C1581T p.H527H 0.730232 0.8542 0.555897 0.5597 0.8394 Uncertain 3_56763328_T->C 3 56763328 56763328 T C snp 2324.77 0/1 99 166 76 90 0.54 exonic rs1565377 ARHGEF3 AU synonymous SNV NM_001128616 exon10 c.A1569G p.G523G 0.728435 0.8542 0.553129 0.5584 0.8402 Uncertain 3_56763525_A->G 3 56763525 56763525 A G snp 2776.77 0/1 99 249 131 118 0.47 exonic rs1009118 ARHGEF3 AU synonymous SNV NM_001128616 exon10 c.T1372C p.L458L 0.266973 0.3442 0.184838 0.2030 0.3262 Uncertain 3_56763619_A->G 3 56763619 56763619 A G snp 1922.77 0/1 99 170 88 82 0.48 exonic rs6765444 ARHGEF3 AU synonymous SNV NM_001128616 exon10 c.T1278C p.N426N 0.266973 0.3442 0.184761 0.2043 0.3265 Uncertain 3_56766435_C->G 3 56766435 56766435 C G snp 1053.77 0/1 99 102 55 47 0.46 exonic rs3732511 ARHGEF3 AU synonymous SNV NM_001128616 exon9 c.G1077C p.L359L 0.256589 0.3442 0.154698 0.1822 0.3282 Uncertain 3_56785556_C->T 3 56785556 56785556 C T snp 824.77 0/1 99 54 23 31 0.57 intronic rs6792241 ARHGEF3 AU NM_001128615 exon6 c.22127+132C>T 0.523163 0.6726 Uncertain 3_56787451_C->T 3 56787451 56787451 C T snp 1402.77 0/1 99 150 86 64 0.43 intronic rs3821412 ARHGEF3 AU NM_001128615 exon7 c.24234-80C>T 0.782947 0.9355 Uncertain 3_56808956_-->C 3 56808956 56808956 - C indel 1160.73 1/1 84 28 0 28 1.0 intronic rs34038168 ARHGEF3 AU NM_001128616 exon10 c.45730-71insC 0.430511 0.6647 Uncertain 3_56835761_G->A 3 56835761 56835761 G A snp 4875.77 1/1 99 193 1 192 0.99 exonic rs3732508 ARHGEF3 AU synonymous SNV NM_019555 exon1 c.C66T p.P22P 0.321286 0.1944 0.394213 0.5078 0.2993 Uncertain 3_56992738_C->T 3 56992738 56992738 C T snp 366.77 0/1 99 17 6 11 0.65 ncRNA_intronic rs73091596 ARHGEF3-AS1 AU 0.129792 0.2589 Uncertain 3_56993031_C->T 3 56993031 56993031 C T snp 1191.77 0/1 99 88 38 50 0.57 ncRNA_intronic rs4626067 ARHGEF3-AS1 AU 0.129992 0.2589 Uncertain 3_57011234_T->C 3 57011234 57011234 T C snp 1644.77 0/1 99 141 74 67 0.48 intronic rs13080107 ARHGEF3 AU NM_001128615 exon11 c.229620+18317T>C 0.458866 0.3115 Uncertain 3_57069226_C->T 3 57069226 57069226 C T snp 378.77 0/1 99 45 25 20 0.44 intronic rs1844071 ARHGEF3 AU NM_001128615 exon12 c.305907+22C>T 0.239617 0.372 0.160972 0.1798 0.3339 Uncertain 3_57130644_A->- 3 57130644 57130644 A - indel 572.73 1/1 45 15 0 15 1.0 intronic rs56914717 IL17RD AD NM_017563 exon1 c.113+111delA 0.222644 0.376 Uncertain 3_57131529_A->C 3 57131529 57131529 A C snp 3641.77 0/1 99 250 117 133 0.53 intronic rs6764188 IL17RD AD NM_017563 exon2 c.1203-94A>C 0.605631 0.2669 0.7396 0.2979 Uncertain 3_57132200_A->G 3 57132200 57132200 A G snp 4785.77 1/1 99 169 0 169 1.0 exonic rs2291462 IL17RD AD synonymous SNV NM_017563 exon12 c.T1531C p.L511L 0.736222 0.5129 0.791020 0.8239 0.4976 Uncertain 3_57136585_C->T 3 57136585 57136585 C T snp 1576.77 1/1 99 59 0 59 1.0 exonic rs17057718 IL17RD AD nonsynonymous SNV NM_017563 exon10 c.G901A p.V301M 0.205871 0.376 0.124789 0.1967 0.3732 0.23 T 0.960 P -0.929 T 0.777 T 0.137 P Pathogenic 3_57137090_A->G 3 57137090 57137090 A G snp 4238.77 1/1 99 159 0 159 1.0 intronic rs2247656 IL17RD AD NM_017563 exon5 c.6698-28A>G 0.79373 0.5208 0.858747 0.8719 0.5612 Uncertain 3_57137233_A->- 3 57137233 57137233 A - indel 3485.73 1/1 99 114 0 114 1.0 intronic rs3215002 IL17RD AD NM_017563 exon5 c.6753+60delA 0.205871 0.376 0.127731 Uncertain 3_57138228_T->A 3 57138228 57138228 T A snp 242.8 1/1 21 7 0 7 1.0 intronic rs1077034 IL17RD AD NM_017563 exon6 c.7949-141T>A 0.20627 0.376 Uncertain 3_57139833_G->A 3 57139833 57139833 G A snp 882.77 1/1 63 35 0 35 1.0 intronic rs1545982 IL17RD AD NM_017563 exon7 c.9464-51G>A 0.736821 0.5119 Uncertain 3_57139972_A->G 3 57139972 57139972 A G snp 3838.77 1/1 99 131 0 131 1.0 exonic rs1545981 IL17RD AD synonymous SNV NM_017563 exon7 c.T660C p.H220H 0.79373 0.5208 0.858911 0.8697 0.5061 Uncertain 3_57140108_G->A 3 57140108 57140108 G A snp 6125.77 1/1 99 229 2 227 0.99 intronic rs2035654 IL17RD AD NM_017563 exon8 c.9717-29G>A 0.736821 0.5119 0.791635 0.8248 0.5006 Uncertain 3_57176505_A->G 3 57176505 57176505 A G snp 2329.77 1/1 99 91 0 91 1.0 intronic rs1386829 IL17RD AD NM_017563 exon12 c.23921+22164A>G 0.31869 0.3839 0.1996 0.4091 Uncertain 3_57233661_A->T 3 57233661 57233661 A T snp 54.74 1/1 6 2 0 2 1.0 intronic rs12715498 HESX1 AR,AD NM_003865 exon4 c.1565-128A>T 0.570887 0.9028 Uncertain 3_57233680_TAAAT->- 3 57233680 57233684 TAAAT - indel 372.8 1/1 18 6 0 6 1.0 intronic rs143889572 HESX1 AR,AD NM_003865 exon4 c.1565-109_1565-105delTAAAT 0.49361 0.9107 Uncertain 3_57264872_T->C 3 57264872 57264872 T C snp 99.28 1/1 9 4 0 4 1.0 intronic rs6789847 APPL1 AD NM_012096 exon1 c.54+2907T>C 0.497804 0.9097 Uncertain 3_57276259_A->- 3 57276259 57276259 A - indel 1276.73 1/1 99 43 0 43 1.0 intronic rs11346575 APPL1 AD NM_012096 exon6 c.14259+89delA 0.449481 0.8393 Uncertain 3_57294085_C->G 3 57294085 57294085 C G snp 3588.77 1/1 99 129 0 129 1.0 intronic rs10510791 APPL1 AD NM_012096 exon17 c.32136+38C>G 0.463059 0.8413 0.322851 0.4609 0.8604 Uncertain 3_57294295_T->C 3 57294295 57294295 T C snp 227.84 1/1 18 8 0 8 1.0 intronic rs1533272 APPL1 AD NM_012096 exon18 c.32270+114T>C 0.463858 0.8433 Uncertain 3_57294885_AAATT->- 3 57294885 57294889 AAATT - indel 999.73 1/1 42 21 0 21 1.0 intronic rs150865255 APPL1 AD NM_012096 exon19 c.32891+83_32891+87delAAATT 0.445687 0.8433 Uncertain 3_57321916_T->G 3 57321916 57321916 T G snp 2069.77 1/1 99 71 0 71 1.0 intronic rs883244 ASB14 AU NM_001142733 exon7 c.11351-12T>G 0.735823 0.9157 0.640604 0.6426 0.9264 Uncertain 3_57323170_A->G 3 57323170 57323170 A G snp 1742.77 1/1 99 60 0 60 1.0 intronic rs528035 ASB14 AU NM_001142733 exon9 c.12574+19A>G 0.471246 0.9117 0.328077 0.4327 0.9167 Uncertain 3_57335706_ACACACAC->- 3 57335706 57335713 ACACACAC - indel 3267.73 ./1 99 33 0 33 1.0 intronic rs760905563 DNAH12 AU NM_001291661 exon5 c.7954-56_7954-49delACACACAC Uncertain 3_57335706_ACACACACAC->- 3 57335706 57335715 ACACACACAC - indel 3267.73 ./1 99 33 0 33 1.0 intronic rs57748737 DNAH12 AU NM_001291661 exon5 c.7954-56_7954-47delACACACACAC Uncertain 3_57335876_C->T 3 57335876 57335876 C T snp 6815.77 1/1 99 250 0 250 1.0 exonic rs4060726 DNAH12 AU unknown 0.665136 0.9157 0.576873 0.6184 0.9228 1 T 0.009 P -1.014 T 0.12 T 0.134 T Uncertain 3_57386148_C->G 3 57386148 57386148 C G snp 1708.77 1/1 99 66 0 66 1.0 exonic DNAH12 AU unknown 0.277356 0.4028 0.193287 0.2993 0.4164 1.0 P -0.930 T Uncertain 3_57388037_-->T 3 57388037 57388037 - T indel 1146.73 0/1 64 60 8 52 0.87 intronic DNAH12 AU NM_001291661 exon16 c.61226-997insT 0.35024 0.3968 Uncertain 3_57388114_C->T 3 57388114 57388114 C T snp 1927.77 1/1 99 72 0 72 1.0 intronic DNAH12 AU NM_001291661 exon16 c.61226-920C>T 0.586462 0.4107 0.556943 0.5366 0.4265 Uncertain 3_57394309_T->G 3 57394309 57394309 T G snp 2518.77 1/1 99 82 0 82 1.0 intronic DNAH12 AU NM_001291661 exon19 c.66454+47T>G 0.587859 0.4127 0.557600 0.5501 0.4489 Uncertain 3_57401030_A->C 3 57401030 57401030 A C snp 667.77 1/1 51 24 0 24 1.0 intronic rs9811855 DNAH12 AU NM_001291661 exon21 c.73344-122A>C 0.58766 0.4216 Uncertain 3_57414071_G->A 3 57414071 57414071 G A snp 713.77 1/1 54 24 1 23 0.96 exonic rs4681982 DNAH12 AU unknown 0.590455 0.4216 0.5443 0.4346 0.1 T 0.0 P -1.057 T 0.0 T 0.0 T Uncertain 3_57414434_A->G 3 57414434 57414434 A G snp 3564.77 1/1 99 120 0 120 1.0 exonic rs4462937 DNAH12 AU unknown 0.29992 0.4187 0.208936 0.3181 0.4339 1 T 0.000 P -0.936 T 0.0 T 0.0 T Uncertain 3_57419497_C->T 3 57419497 57419497 C T snp 3933.77 1/1 99 143 0 143 1.0 exonic rs6773904 DNAH12 AU unknown 0.404153 0.4177 0.402102 0.5007 0.4309 0.34 T 1.0 P -0.903 T 0.993 D 0.911 D Uncertain 3_57422824_A->G 3 57422824 57422824 A G snp 846.77 1/1 63 32 0 32 1.0 intronic rs4234394 DNAH12 AU NM_001291661 exon29 c.94979+37A>G 0.490016 0.4177 0.479343 0.5347 0.4337 Uncertain 3_57430988_G->A 3 57430988 57430988 G A snp 3406.77 1/1 99 129 0 129 1.0 exonic rs6768943 DNAH12 AU unknown 0.420927 0.4147 0.428603 0.5293 0.4258 Uncertain 3_57431741_TAAATAAATAAT->- 3 57431741 57431752 TAAATAAATAAT - indel 4974.73 1/1 99 56 0 56 1.0 splicing rs139063171 DNAH12 AU NM_001291661 exon32 c.103949-16_103949-5delTAAATAAATAAT 0.826078 0.5198 0.534044 0.5655 0.5284 Pathogenic 3_57431985_G->A 3 57431985 57431985 G A snp 5055.77 1/1 99 179 0 179 1.0 exonic rs2121743 DNAH12 AU unknown 0.42512 0.4177 0.434078 0.5373 0.4459 Uncertain 3_57432064_C->T 3 57432064 57432064 C T snp 1158.77 1/1 84 36 0 36 1.0 intronic rs2121742 DNAH12 AU NM_001291661 exon32 c.104189+67C>T 0.407748 0.4177 Uncertain 3_57432466_AAC->- 3 57432466 57432468 AAC - indel 1612.73 0/1 99 86 43 43 0.5 intronic rs375701191 DNAH12 AU NM_001291661 exon33 c.104608+50_104608+52delAAC 0.00119808 0.001 0.000159 0.0007 0 Uncertain 3_57443817_T->C 3 57443817 57443817 T C snp 2713.77 1/1 99 94 0 94 1.0 intronic rs6768661 DNAH12 AU NM_001291661 exon38 c.116017-8T>C 0.632388 0.5 0.668200 0.7185 0.5113 Uncertain 3_57456371_T->C 3 57456371 57456371 T C snp 1229.77 1/1 87 42 0 42 1.0 intronic rs9871422 DNAH12 AU NM_001291661 exon43 c.128555+8T>C 0.631589 0.5 0.668423 0.7165 0.5182 Uncertain 3_57457123_C->T 3 57457123 57457123 C T snp 933.77 1/1 69 29 0 29 1.0 intronic rs6445886 DNAH12 AU NM_001291661 exon44 c.129390-75C>T 0.631589 0.5 Uncertain 3_57469053_A->C 3 57469053 57469053 A C snp 1997.77 1/1 99 69 0 69 1.0 intronic rs9826084 DNAH12 AU NM_001291661 exon46 c.141294-49A>C 0.631589 0.5 0.667251 0.7125 0.5123 Uncertain 3_57469097_C->T 3 57469097 57469097 C T snp 2727.77 1/1 99 107 0 107 1.0 splicing rs9863860 DNAH12 AU NM_001291661 exon46 c.141294-5C>T 0.631589 0.5 0.659001 0.7130 0.5114 Pathogenic 3_57469272_C->T 3 57469272 57469272 C T snp 1263.77 1/1 52 48 2 46 0.96 intronic rs9864150 DNAH12 AU NM_001291661 exon46 c.141430+34C>T 0.631589 0.5 0.667544 0.7134 0.5098 Uncertain 3_57475351_T->G 3 57475351 57475351 T G snp 1271.77 1/1 93 50 0 50 1.0 exonic rs6806444 DNAH12 AU unknown 0.633586 0.5 0.668638 0.7151 0.5113 0.5 T 1.000 P -1.028 T 0.0 T 0.0 T Uncertain 3_57484106_T->C 3 57484106 57484106 T C snp 479.77 0/1 99 37 19 18 0.49 UTR3 rs140064731 DNAH12 AU 0.0081869 0.005 Uncertain 3_57484403_C->T 3 57484403 57484403 C T snp 267.77 0/1 99 13 4 9 0.69 intronic DNAH12 AU NM_198564 exon1 c.39+138C>T Uncertain 3_57488279_-->TTC 3 57488279 57488279 - TTC indel 1359.73 1/1 78 29 0 29 1.0 intronic rs10662782 DNAH12 AU NM_198564 exon3 c.3980+73insTTC 0.631589 0.5 Uncertain 3_57489591_C->A 3 57489591 57489591 C A snp 93.28 1/1 9 3 0 3 1.0 intronic rs4681992 DNAH12 AU NM_198564 exon4 c.5516-151C>A 0.465256 0.4177 Uncertain 3_57509103_T->C 3 57509103 57509103 T C snp 48.74 1/1 6 4 0 4 1.0 intronic rs6768974 DNAH12 AU NM_198564 exon9 c.25083-206T>C 0.826278 0.5169 Uncertain 3_57542173_C->T 3 57542173 57542173 C T snp 3944.77 1/1 99 138 0 138 1.0 exonic rs2241988 PDE12 AU nonsynonymous SNV NM_177966 exon1 c.C67T p.R23W 0.387979 0.4306 0.353254 0.4723 0.4697 0.06 T 0.009 P -0.889 T 0.987 D 0.431 D Pathogenic 3_57582719_AAA->- 3 57582719 57582721 AAA - indel 8563.73 1/1 99 152 0 152 1.0 intronic rs397989754 ARF4 AU NM_001660 exon6 c.24862-81_24862-79delAAA Uncertain 3_57627500_T->C 3 57627500 57627500 T C snp 999.77 1/1 75 38 0 38 1.0 intronic rs9873675 DENND6A AU NM_152678 exon9 c.13534+26T>C 0.858027 0.997 0.813317 0.8586 0.9991 Uncertain 3_57627580_A->C 3 57627580 57627580 A C snp 264.8 1/1 21 7 0 7 1.0 intronic rs9816093 DENND6A AU NM_152678 exon9 c.13534+106A>C 0.858027 0.997 Uncertain 3_57632004_-->A 3 57632004 57632004 - A indel 802.73 0/1 99 93 45 48 0.52 intronic rs140841663 DENND6A AU NM_152678 exon11 c.18102-38insA 0.0697 0.0427 Uncertain 3_57646329_T->G 3 57646329 57646329 T G snp 96.28 1/1 9 3 0 3 1.0 intronic rs6445918 DENND6A AU NM_152678 exon14 c.32546-157T>G 0.757188 0.997 Uncertain 3_57882601_C->T 3 57882601 57882601 C T snp 2197.77 1/1 99 88 0 88 1.0 exonic rs17058639 SLMAP AU synonymous SNV NM_007159 exon14 c.C1341T p.D447D 0.299521 0.4752 0.210826 0.2959 0.4884 1.000 P -0.901 T Likely benign 3_57893507_A->G 3 57893507 57893507 A G snp 304.78 1/1 24 8 0 8 1.0 intronic rs9864975 SLMAP AU NM_001304420 exon16 c.150232-103A>G 0.367013 0.4643 Uncertain 3_57912865_-->A 3 57912865 57912865 - A indel 722.73 1/1 54 18 0 18 1.0 intronic rs556366528 SLMAP AU NM_001304420 exon22 c.169644-157insA 0.29972 0.4633 Uncertain 3_57994719_T->A 3 57994719 57994719 T A snp 1843.77 1/1 99 49 0 49 1.0 intronic rs1658338 FLNB AR,AD NM_001164318 exon1 c.292+136T>A 0.857228 0.9544 Uncertain 3_58080505_G->T 3 58080505 58080505 G T snp 1412.77 1/1 99 47 0 47 1.0 intronic rs7644723 FLNB AR,AD NM_001164318 exon5 c.86271-57G>T 0.609824 0.9306 Uncertain 3_58081772_T->G 3 58081772 58081772 T G snp 256.77 0/1 99 20 11 9 0.45 intronic FLNB AR,AD NM_001164318 exon6 c.87576-95T>G Uncertain 3_58081888_T->C 3 58081888 58081888 T C snp 2499.77 1/1 99 88 0 88 1.0 exonic rs1522384 FLNB AR,AD synonymous SNV NM_001457 exon6 c.T927C p.S309S 0.641973 0.9772 0.395125 0.4647 0.9761 Uncertain 3_58083446_G->A 3 58083446 58083446 G A snp 624.77 1/1 48 23 0 23 1.0 intronic rs939882 FLNB AR,AD NM_001164318 exon7 c.89250-95G>A 0.613019 0.9306 Uncertain 3_58089516_A->G 3 58089516 58089516 A G snp 360.77 1/1 30 10 0 10 1.0 intronic rs6445945 FLNB AR,AD NM_001164318 exon10 c.95394-169A>G 0.845447 0.998 Uncertain 3_58089585_T->A 3 58089585 58089585 T A snp 1222.77 1/1 90 43 0 43 1.0 intronic rs6445946 FLNB AR,AD NM_001164318 exon10 c.95394-100T>A 0.55611 0.9286 Uncertain 3_58089877_A->G 3 58089877 58089877 A G snp 764.77 1/1 57 24 0 24 1.0 intronic rs1522386 FLNB AR,AD NM_001164318 exon10 c.95521+65A>G 0.84405 0.998 Uncertain 3_58094157_A->G 3 58094157 58094157 A G snp 1601.77 1/1 99 57 1 56 0.98 intronic rs2259091 FLNB AR,AD NM_001164318 exon13 c.99893-27A>G 0.660543 0.9782 0.426265 0.4741 0.9757 Uncertain 3_58094852_C->T 3 58094852 58094852 C T snp 3788.77 1/1 99 128 0 128 1.0 intronic rs7634236 FLNB AR,AD NM_001164318 exon14 c.100614-53C>T 0.651158 0.9762 Uncertain 3_58095466_G->T 3 58095466 58095466 G T snp 759.77 1/1 60 20 0 20 1.0 intronic rs2708318 FLNB AR,AD NM_001164318 exon15 c.101135+40G>T 0.698482 0.9742 0.476472 0.4743 0.9744 Uncertain 3_58095500_G->T 3 58095500 58095500 G T snp 222.84 1/1 18 6 0 6 1.0 intronic rs2686635 FLNB AR,AD NM_001164318 exon15 c.101135+74G>T 0.686102 0.9742 Uncertain 3_58109162_G->A 3 58109162 58109162 G A snp 7161.77 1/1 99 250 0 250 1.0 exonic rs1131356 FLNB AR,AD nonsynonymous SNV NM_001457 exon21 c.G3469A p.D1157N 0.546126 0.9187 0.300630 0.3732 0.9129 0.06 T 1.000 P -0.962 T 1.0 D 0.999 D Pathogenic 3_58111285_T->G 3 58111285 58111285 T G snp 4436.77 1/1 99 155 0 155 1.0 intronic rs3732633 FLNB AR,AD NM_001164318 exon23 c.117016-22T>G 0.585863 0.9216 0.346994 0.3862 0.9151 Uncertain 3_58112251_A->G 3 58112251 58112251 A G snp 176.9 1/1 15 5 0 5 1.0 intronic rs12495232 FLNB AR,AD NM_001164318 exon24 c.118037-77A>G 0.585863 0.9206 Uncertain 3_58112440_A->G 3 58112440 58112440 A G snp 1608.77 1/1 99 63 0 63 1.0 exonic rs2362903 FLNB AR,AD synonymous SNV NM_001457 exon24 c.A4173G p.A1391A 0.833267 0.998 0.725588 0.7079 0.9990 Uncertain 3_58112488_C->T 3 58112488 58112488 C T snp 1404.77 1/1 99 52 0 52 1.0 exonic rs2362904 FLNB AR,AD synonymous SNV NM_001457 exon24 c.C4221T p.P1407P 0.648562 0.9712 0.402430 0.4091 0.9741 Uncertain 3_58112556_G->C 3 58112556 58112556 G C snp 905.77 1/1 66 30 0 30 1.0 intronic rs2362905 FLNB AR,AD NM_001164318 exon24 c.118198+67G>C 0.655751 0.9712 Uncertain 3_58116316_A->G 3 58116316 58116316 A G snp 377.77 1/1 30 10 0 10 1.0 intronic rs1573890 FLNB AR,AD NM_001164318 exon25 c.122176-151A>G 0.611422 0.9722 Uncertain 3_58116358_C->T 3 58116358 58116358 C T snp 1016.77 1/1 75 27 0 27 1.0 intronic rs4475005 FLNB AR,AD NM_001164318 exon25 c.122176-109C>T 0.58726 0.9196 Uncertain 3_58116369_T->C 3 58116369 58116369 T C snp 1214.77 1/1 90 32 0 32 1.0 intronic rs1882692 FLNB AR,AD NM_001164318 exon25 c.122176-98T>C 0.588059 0.9206 Uncertain 3_58117724_G->A 3 58117724 58117724 G A snp 2986.77 0/1 99 249 127 122 0.49 intronic rs60183346 FLNB AR,AD NM_001164317 exon26 c.123455-22G>A 0.0886581 0.3145 0.0396 0.3067 Uncertain 3_58118555_G->A 3 58118555 58118555 G A snp 1712.77 1/1 99 67 0 67 1.0 exonic rs12632456 FLNB AR,AD nonsynonymous SNV NM_001457 exon26 c.G4411A p.V1471M 0.608227 0.9692 0.359988 0.3952 0.9736 0.09 T 0.988 P -0.985 T 0.877 T 0.423 P Pathogenic 3_58118700_A->G 3 58118700 58118700 A G snp 920.77 1/1 66 37 0 37 1.0 intronic rs12638356 FLNB AR,AD NM_001164318 exon26 c.124367+42A>G 0.585064 0.9206 0.350300 0.3999 0.9207 Uncertain 3_58121626_T->A 3 58121626 58121626 T A snp 2420.77 1/1 99 79 0 79 1.0 intronic rs6445948 FLNB AR,AD NM_001164318 exon28 c.127414-79T>A 0.829073 0.998 Uncertain 3_58145263_G->A 3 58145263 58145263 G A snp 2497.77 1/1 99 94 0 94 1.0 intronic rs12634123 FLNB AR,AD NM_001164318 exon42 c.150989-17G>A 0.748602 0.998 0.627249 0.6698 0.9990 Uncertain 3_58154327_C->T 3 58154327 58154327 C T snp 2223.77 1/1 99 77 0 77 1.0 exonic rs8640 FLNB AR,AD synonymous SNV NM_001457 exon44 c.C7359T p.S2453S 0.571286 0.9216 0.336768 0.3852 0.9155 Uncertain 3_58154414_C->T 3 58154414 58154414 C T snp 195.8 0/1 21 8 1 7 0.88 intronic rs3773014 FLNB AR,AD NM_001164318 exon44 c.160094+29C>T 0.0109824 0.0506 0.000154 0.0056 0.0554 Uncertain 3_58156176_G->A 3 58156176 58156176 G A snp 776.77 1/1 60 21 0 21 1.0 intronic rs4681660 FLNB AR,AD NM_001164318 exon46 c.162010-125G>A 0.823682 0.998 Uncertain 3_58179028_T->C 3 58179028 58179028 T C snp 1980.77 0/1 99 164 72 92 0.56 intronic rs3732630 DNASE1L3 AR NM_004944 exon2 c.656-41T>C 0.413538 0.6399 0.290558 0.3726 0.6379 Uncertain 3_58179318_C->T 3 58179318 58179318 C T snp 504.77 1/1 39 14 0 14 1.0 intronic rs9812109 DNASE1L3 AR NM_004944 exon2 c.753+152C>T 0.850439 0.999 Uncertain 3_58186719_C->A 3 58186719 58186719 C A snp 831.77 0/1 99 69 30 39 0.57 splicing rs3772985 DNASE1L3 AR NM_004944 exon4 c.8310-4C>A 0.221246 0.2946 0.159388 0.1603 0.2982 Pathogenic 3_58186911_A->G 3 58186911 58186911 A G snp 1330.77 1/1 96 51 0 51 1.0 intronic rs4234389 DNASE1L3 AR NM_004944 exon4 c.8423+75A>G 0.852436 0.999 Uncertain 3_58191266_C->T 3 58191266 58191266 C T snp 2382.77 0/1 99 211 112 99 0.47 exonic rs2070117 DNASE1L3 AR synonymous SNV NM_004944 exon3 c.G252A p.T84T 0.361821 0.6429 0.187404 0.2772 0.6280 Uncertain 3_58191433_G->A 3 58191433 58191433 G A snp 1516.77 0/1 99 109 50 59 0.54 intronic rs9311671 DNASE1L3 AR NM_004944 exon6 c.12874+146G>A 0.468251 0.6438 Uncertain 3_58194051_C->A 3 58194051 58194051 C A snp 1521.77 0/1 99 160 86 74 0.46 intronic rs3732631 DNASE1L3 AR NM_004944 exon7 c.15620+18C>A 0.270767 0.3542 0.281178 0.3148 0.3716 Uncertain 3_58196639_C->T 3 58196639 58196639 C T snp 742.77 0/1 99 75 44 31 0.41 UTR5 rs2292677 DNASE1L3 AR 0.272764 0.3532 0.283177 0.3192 0.3774 Uncertain 3_58270963_T->C 3 58270963 58270963 T C snp 2832.77 1/1 99 94 0 94 1.0 intronic rs6774235 ABHD6 AU NM_020676 exon7 c.28553+97T>C 0.859425 1 Uncertain 3_58296210_T->- 3 58296210 58296210 T - indel 627.73 0/1 99 82 34 48 0.59 intronic rs398082125 RPP14 AU NM_007042 exon3 c.177-23delT 0.523762 0.8006 0.5039 0.7612 Uncertain 3_58302404_A->T 3 58302404 58302404 A T snp 833.77 0/1 99 54 26 28 0.52 intronic rs2292674 RPP14 AU NM_007042 exon4 c.6262+86A>T 0.485224 0.8075 Uncertain 3_58303069_C->T 3 58303069 58303069 C T snp 893.77 0/1 99 89 52 37 0.42 intronic rs3773012 RPP14 AU NM_007042 exon6 c.7110-97C>T 0.366414 0.8065 Uncertain 3_58355273_G->C 3 58355273 58355273 G C snp 414.77 0/1 99 42 23 19 0.45 intronic rs9867320 PXK AU NM_017771 exon3 c.36490+68G>C 0.772165 0.8075 0.766871 Uncertain 3_58376397_G->C 3 58376397 58376397 G C snp 796.77 0/1 99 95 58 37 0.39 intronic PXK AU NM_017771 exon5 c.57671+11G>C Uncertain 3_58381262_C->T 3 58381262 58381262 C T snp 312.77 0/1 99 29 17 12 0.41 intronic rs62258105 PXK AU NM_017771 exon9 c.62669-122C>T 0.365016 0.7897 Uncertain 3_58385194_T->C 3 58385194 58385194 T C snp 1169.77 0/1 99 78 34 44 0.56 intronic rs4075152 PXK AU NM_017771 exon12 c.66389+90T>C 0.741414 0.7996 Uncertain 3_58395497_-->TG 3 58395497 58395497 - TG indel 360.73 0/1 99 90 55 35 0.39 intronic rs34721541 PXK AU NM_017771 exon15 c.76630+152insTG Uncertain 3_58395501_G->A 3 58395501 58395501 G A snp 548.77 0/1 99 79 57 22 0.28 intronic rs74477836 PXK AU NM_017771 exon15 c.76630+156G>A Uncertain 3_58395891_C->G 3 58395891 58395891 C G snp 2046.77 0/1 99 191 102 89 0.47 splicing rs4681851 PXK AU NM_017771 exon16 c.77171+5C>G 0.148762 0.2004 0.142550 0.1530 0.1863 Pathogenic 3_58398466_C->T 3 58398466 58398466 C T snp 306.77 0/1 99 21 9 12 0.57 intronic rs12635366 PXK AU NM_017771 exon17 c.79912-161C>T 0.760184 0.8006 Uncertain 3_58409063_T->C 3 58409063 58409063 T C snp 425.77 0/1 99 16 4 12 0.75 intronic rs12631656 PXK AU NM_001289095 exon17 c.90472-124T>C 0.359225 0.7966 Uncertain 3_58409082_A->G 3 58409082 58409082 A G snp 489.77 0/1 99 27 12 15 0.56 intronic rs12634132 PXK AU NM_001289095 exon17 c.90472-105A>G 0.366613 0.7966 Uncertain 3_58409173_A->T 3 58409173 58409173 A T snp 1690.77 0/1 99 148 83 65 0.44 intronic rs4681852 PXK AU NM_001289095 exon17 c.90472-14A>T 0.148762 0.2004 0.1462 0.18 Uncertain 3_58413662_G->A 3 58413662 58413662 G A snp 234.84 0/1 18 8 1 7 0.88 UTR3 rs7230 PDHB AU 0.367212 0.7976 0.4084 0.8243 Uncertain 3_58414382_C->T 3 58414382 58414382 C T snp 1100.77 0/1 99 67 27 40 0.6 intronic rs62259769 PDHB AU NM_001173468 exon2 c.581+41C>T 0.367212 0.7976 0.191373 0.3170 0.8102 Uncertain 3_58415590_C->A 3 58415590 58415590 C A snp 2136.77 0/1 99 187 101 86 0.46 intronic rs2070662 PDHB AU NM_001173468 exon3 c.1766+64C>A 0.740415 0.7996 0.7751 0.8183 Uncertain 3_58416538_T->C 3 58416538 58416538 T C snp 3739.77 1/1 99 140 0 140 1.0 exonic rs4264746 PDHB AU synonymous SNV NM_000925 exon6 c.A435G p.R145R 0.984824 1 0.979702 0.9948 0.9999 CLINSIG=non-pathogenic;CLNDBN=not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000127406.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Uncertain 3_58484521_T->C 3 58484521 58484521 T C snp 2042.77 0/1 99 211 116 95 0.45 intronic rs9853873 KCTD6 AU NM_001128214 exon2 c.27+12T>C 0.133786 0.2183 0.111179 0.1214 0.2257 Uncertain 3_58496562_A->G 3 58496562 58496562 A G snp 267.8 1/1 21 7 0 7 1.0 intronic rs28394068 ACOX2 AU NM_003500 exon2 c.3802+1810A>G 0.9998 1 Uncertain 3_58512237_A->G 3 58512237 58512237 A G snp 1506.77 0/1 99 148 77 71 0.48 exonic rs1127745 ACOX2 AU synonymous SNV NM_003500 exon10 c.T1302C p.C434C 0.283147 0.2262 0.277410 0.1589 0.2314 Uncertain 3_58512375_T->C 3 58512375 58512375 T C snp 688.77 0/1 99 59 32 27 0.46 exonic rs1127743 ACOX2 AU synonymous SNV NM_003500 exon10 c.A1164G p.A388A 0.163339 0.2282 0.129863 0.0925 0.2337 Uncertain 3_58516464_G->A 3 58516464 58516464 G A snp 988.77 0/1 99 52 20 32 0.62 intronic rs9844590 ACOX2 AU NM_003500 exon8 c.25415+99G>A 0.104433 0.2183 Uncertain 3_58520306_G->C 3 58520306 58520306 G C snp 4363.77 1/1 99 163 1 162 0.99 intronic rs7611026 ACOX2 AU NM_003500 exon13 c.29299+57G>C 0.869808 1 0.9195 0.9999 Uncertain 3_58520859_A->G 3 58520859 58520859 A G snp 2051.77 1/1 99 63 0 63 1.0 UTR5 rs4681862 ACOX2 AU 0.869808 1 0.840304 0.9171 1 Uncertain 3_58552698_C->G 3 58552698 58552698 C G snp 78.77 0/1 99 14 8 6 0.43 intronic rs181035470 FAM107A AU NM_007177 exon2 c.620-236C>G 0.000798722 0.004 Uncertain 3_58553160_T->G 3 58553160 58553160 T G snp 775.77 1/1 57 23 0 23 1.0 intronic rs7637862 FAM107A AU NM_007177 exon2 c.777+69T>G 0.505192 0.7817 Uncertain 3_58555343_C->T 3 58555343 58555343 C T snp 853.77 1/1 63 26 0 26 1.0 intronic rs7632668 FAM107A AU NM_007177 exon3 c.3103-74C>T 0.544529 0.7768 Uncertain 3_58555386_G->T 3 58555386 58555386 G T snp 1705.77 1/1 98 57 1 56 0.98 intronic rs7609991 FAM107A AU NM_007177 exon3 c.3103-31G>T 0.54972 0.7778 0.388872 0.4550 0.7884 Uncertain 3_58575110_A->G 3 58575110 58575110 A G snp 1682.77 1/1 99 59 0 59 1.0 intronic rs6445991 FAM107A AU NM_001282714 exon4 c.22682+114A>G 0.834265 0.999 Uncertain 3_58612810_A->C 3 58612810 58612810 A C snp 396.77 0/1 99 34 19 15 0.44 UTR5 rs117406081 FAM107A AU 0.00599042 0.0268 Uncertain 3_58621935_C->T 3 58621935 58621935 C T snp 209.84 1/1 18 6 0 6 1.0 intronic rs6791782 FAM3D AU NM_138805 exon2 c.2015-85C>T 0.971246 1 Uncertain 3_58625975_C->G 3 58625975 58625975 C G snp 838.77 0/1 99 70 34 36 0.51 intronic rs3749287 FAM3D AU NM_138805 exon4 c.5899+71C>G 0.488618 0.4613 0.445686 Uncertain 3_58635197_G->A 3 58635197 58635197 G A snp 484.77 0/1 99 41 20 21 0.51 intronic rs9811989 FAM3D AU NM_138805 exon7 c.15060+132G>A 0.621605 0.5903 Uncertain 3_58703353_C->T 3 58703353 58703353 C T snp 1787.77 0/1 99 144 72 72 0.5 intergenic rs181180809 FAM3D AU 0.000798722 0.004 0.0003 0.0076 0.980 D -0.989 T Uncertain 3_59908126_A->G 3 59908126 59908126 A G snp 1445.77 0/1 99 150 86 64 0.43 exonic rs1385816 FHIT AU synonymous SNV NM_001166243 exon8 c.T294C p.H98H 0.22484 0.3333 0.167077 0.2453 0.3353 Uncertain 3_59908265_A->C 3 59908265 59908265 A C snp 31.77 0/1 60 8 6 2 0.25 intronic rs2276732 FHIT AU NM_002012 exon3 c.170189+125A>C 0.13139 0.3313 Uncertain 3_59996927_T->C 3 59996927 59996927 T C snp 540.77 0/1 99 43 23 20 0.47 intronic rs4679626 FHIT AU NM_002012 exon4 c.259145-169T>C 0.345447 0.4583 Uncertain 3_59996969_C->T 3 59996969 59996969 C T snp 992.77 0/1 99 92 51 41 0.45 intronic rs4679627 FHIT AU NM_002012 exon4 c.259145-127C>T 0.465655 0.4554 Uncertain 3_59999690_T->C 3 59999690 59999690 T C snp 828.77 0/1 99 83 48 35 0.42 intronic rs13067835 FHIT AU NM_002012 exon5 c.261781-42T>C 0.294728 0.2976 0.354067 0.3878 0.2959 Uncertain 3_60898271_G->A 3 60898271 60898271 G A snp 2103.77 1/1 99 69 0 69 1.0 intronic FHIT AU NM_002012 exon7 c.1069754+90566G>A 0.7498 0.9464 Uncertain 3_60898434_T->C 3 60898434 60898434 T C snp 3860.77 1/1 99 146 0 146 1.0 intronic FHIT AU NM_002012 exon7 c.1069754+90729T>C 0.445687 0.8571 0.315312 0.4429 0.8352 Uncertain 3_61734539_T->C 3 61734539 61734539 T C snp 142.77 0/1 99 10 4 6 0.6 intronic rs3821880 PTPRG AU NM_002841 exon2 c.186590-12T>C 0.596046 0.7302 0.555205 0.5753 0.7315 Uncertain 3_61911417_-->A 3 61911417 61911417 - A indel 48.73 0/1 69 9 4 5 0.56 intronic rs35919403 PTPRG AU NM_002841 exon3 c.427337-63881insA 0.402756 0.4573 Uncertain 3_61911495_G->A 3 61911495 61911495 G A snp 614.77 0/1 99 42 17 25 0.6 intronic rs62243237 PTPRG AU NM_002841 exon3 c.427337-63803G>A 0.196086 0.4286 Uncertain 3_62188720_A->G 3 62188720 62188720 A G snp 120.78 0/1 27 5 1 4 0.8 intronic rs17066275 PTPRG AU NM_002841 exon12 c.640885-126A>G 0.126597 0.37 Uncertain 3_62189189_G->A 3 62189189 62189189 G A snp 2171.77 0/1 99 193 106 87 0.45 exonic rs2292245 PTPRG AU nonsynonymous SNV NM_002841 exon12 c.G1720A p.G574S 0.217452 0.3581 0.150732 0.2385 0.3866 1 T 0.0 P -1.002 T 0.098 T 0.011 T Pathogenic 3_62229553_C->T 3 62229553 62229553 C T snp 4353.77 1/1 99 171 0 171 1.0 exonic rs1352882 PTPRG AU synonymous SNV NM_002841 exon15 c.C2448T p.I816I 0.978035 1 0.977007 0.9935 1 Uncertain 3_62278257_C->T 3 62278257 62278257 C T snp 937.77 0/1 99 73 33 40 0.55 ncRNA_intronic rs749701820 PTPRG-AS1 AU 0.0002 0.0015 Uncertain 3_62355666_-->T 3 62355666 62355666 - T indel 310.73 1/1 36 12 0 12 1.0 UTR3 rs3215030 FEZF2 AU Uncertain 3_62424020_A->G 3 62424020 62424020 A G snp 3118.77 0/1 99 219 104 115 0.53 intronic rs143080820 CADPS AU NM_003716 exon3 c.38806+134A>G 0.0071885 0.0337 Uncertain 3_62431415_T->C 3 62431415 62431415 T C snp 1226.77 1/1 93 34 0 34 1.0 intronic rs6791296 CADPS AU NM_003716 exon4 c.46359-24T>C 0.795128 0.8472 0.822159 0.8312 0.8256 Uncertain 3_62498378_G->A 3 62498378 62498378 G A snp 1484.77 1/1 99 56 0 56 1.0 intronic rs1376917 CADPS AU NM_003716 exon14 c.113345-47G>A 0.850439 0.7212 0.897154 0.8823 0.6965 Uncertain 3_62556622_A->G 3 62556622 62556622 A G snp 7171.77 1/1 99 250 0 250 1.0 intronic rs833663 CADPS AU NM_003716 exon22 c.171533+9A>G 0.897963 0.9782 0.900200 0.9408 0.9809 Uncertain 3_62556868_C->T 3 62556868 62556868 C T snp 86.28 1/1 9 3 0 3 1.0 intronic rs833664 CADPS AU NM_003716 exon22 c.171533+255C>T 0.869609 0.9782 Uncertain 3_62611998_C->T 3 62611998 62611998 C T snp 541.77 1/1 42 14 0 14 1.0 intronic rs2600853 CADPS AU NM_003716 exon25 c.246316-19398C>T 0.0982428 0.0903 Uncertain 3_62612013_C->T 3 62612013 62612013 C T snp 750.77 1/1 57 20 0 20 1.0 intronic rs2248008 CADPS AU NM_003716 exon25 c.246316-19383C>T 0.924321 0.999 Uncertain 3_62612145_C->A 3 62612145 62612145 C A snp 5460.77 1/1 99 200 0 200 1.0 intronic rs2248013 CADPS AU NM_003716 exon25 c.246316-19251C>A 0.455471 0.3026 Uncertain 3_62612195_G->T 3 62612195 62612195 G T snp 6043.77 1/1 99 224 1 223 1.0 intronic rs2248019 CADPS AU NM_003716 exon25 c.246316-19201G>T 0.0964457 0.0893 0.0996 0.1040 Uncertain 3_62612280_C->T 3 62612280 62612280 C T snp 3577.77 1/1 99 121 0 121 1.0 intronic rs2367310 CADPS AU NM_003716 exon25 c.246316-19116C>T 0.903754 1 0.9562 1 Uncertain 3_62612294_T->C 3 62612294 62612294 T C snp 2935.77 1/1 99 100 0 100 1.0 intronic rs2367311 CADPS AU NM_003716 exon25 c.246316-19102T>C 0.906949 1 0.9570 1 Uncertain 3_62612309_G->C 3 62612309 62612309 G C snp 2414.77 1/1 99 78 0 78 1.0 intronic rs2367312 CADPS AU NM_003716 exon25 c.246316-19087G>C 0.91853 1 Uncertain 3_62612342_T->C 3 62612342 62612342 T C snp 1547.77 1/1 99 44 1 43 0.98 intronic rs2248023 CADPS AU NM_003716 exon25 c.246316-19054T>C 0.906749 1 Uncertain 3_62612385_G->T 3 62612385 62612385 G T snp 381.77 1/1 30 10 0 10 1.0 intronic rs1349591 CADPS AU NM_003716 exon25 c.246316-19011G>T 0.906949 1 Uncertain 3_62631553_G->T 3 62631553 62631553 G T snp 2437.77 1/1 99 87 0 87 1.0 intronic rs4588354 CADPS AU NM_003716 exon25 c.246438+35G>T 0.677716 0.9236 0.632477 0.7354 0.9342 Uncertain 3_62636826_C->T 3 62636826 62636826 C T snp 1673.77 1/1 99 54 0 54 1.0 intronic rs4688302 CADPS AU NM_003716 exon26 c.251675+71C>T 0.941294 1 Uncertain 3_62739092_A->G 3 62739092 62739092 A G snp 1036.77 1/1 75 39 0 39 1.0 intronic rs478123 CADPS AU NM_003716 exon28 c.354035-23A>G 0.875998 0.9246 0.910349 0.8741 0.9076 Uncertain 3_63437769_T->C 3 63437769 63437769 T C snp 2798.77 0/1 99 235 115 120 0.51 ncRNA_intronic rs181735010 SYNPR-AS1 AU 0.00179712 0.0079 0.0007 0.0101 Uncertain 3_63437858_T->C 3 63437858 63437858 T C snp 2003.77 0/1 99 195 101 94 0.48 ncRNA_intronic rs6806334 SYNPR-AS1 AU 0.224641 0.1726 Uncertain 3_63437977_C->G 3 63437977 63437977 C G snp 1202.77 1/1 90 32 0 32 1.0 ncRNA_intronic rs6793874 SYNPR-AS1 AU 0.552117 0.6319 Uncertain 3_63466333_T->C 3 63466333 63466333 T C snp 383.77 1/1 30 10 0 10 1.0 ncRNA_intronic rs1451308 SYNPR-AS1 AU 0.595647 0.5486 Uncertain 3_63466382_G->T 3 63466382 63466382 G T snp 473.77 0/1 99 33 19 14 0.42 ncRNA_intronic rs6772726 SYNPR-AS1 AU 0.419928 0.4683 Uncertain 3_63595096_A->T 3 63595096 63595096 A T snp 74.77 0/1 99 8 5 3 0.38 intronic rs79425913 SYNPR AU NM_001130003 exon5 c.330783+104A>T 0.121006 0.2073 Uncertain 3_63596277_A->C 3 63596277 63596277 A C snp 1462.77 0/1 99 102 46 56 0.55 intronic rs6445369 SYNPR AU NM_001130003 exon5 c.330783+1285A>C 0.54393 0.4544 Uncertain 3_63649259_G->T 3 63649259 63649259 G T snp 82.77 0/1 99 12 7 5 0.42 intronic rs7612738 SNTN AU NM_001080537 exon4 c.11249-353G>T 0.659345 0.7659 Uncertain 3_63649492_A->G 3 63649492 63649492 A G snp 528.77 0/1 99 33 12 21 0.64 intronic rs7634688 SNTN AU NM_001080537 exon4 c.11249-120A>G 0.386382 0.6151 0.5448 0.7102 Uncertain 3_63816811_-->ACACT 3 63816811 63816811 - ACACT indel 5725.73 0/1 99 175 93 82 0.47 ncRNA_exonic rs3830344 C3orf49 AU 0.0173722 0.0843 0.0030 0.0606 Uncertain 3_63821914_C->G 3 63821914 63821914 C G snp 1218.77 1/1 87 49 0 49 1.0 ncRNA_intronic rs2637982 C3orf49 AU 0.994609 1 0.994522 Uncertain 3_63832102_A->G 3 63832102 63832102 A G snp 43.77 0/1 70 4 2 2 0.5 ncRNA_intronic rs832186 C3orf49 AU 0.113618 0.1319 Uncertain 3_63981635_C->T 3 63981635 63981635 C T snp 3278.77 1/1 99 114 0 114 1.0 exonic rs3733125 ATXN7 AD synonymous SNV NM_000333 exon12 c.C2137T p.L713L 0.0904553 0.1925 0.075346 0.0968 0.2184 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000116486.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 3_63982082_G->A 3 63982082 63982082 G A snp 3938.77 1/1 99 142 0 142 1.0 exonic rs3774729 ATXN7 AD nonsynonymous SNV NM_000333 exon12 c.G2584A p.V862M 0.4377 0.4603 0.390691 0.3477 0.4951 1 T 0.001 P -0.951 T 0.028 T 0.003 T CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000116488.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 3_63999322_G->A 3 63999322 63999322 G A snp 2335.77 1/1 99 75 0 75 1.0 intronic rs3816157 PSMD6 AU NM_001271781 exon3 c.2940+39G>A 0.253794 0.2629 0.217385 0.1805 0.2924 Uncertain 3_64004409_-->A 3 64004409 64004409 - A indel 1871.73 1/1 99 72 0 72 1.0 intronic rs11376250 PSMD6 AU NM_001271781 exon4 c.8040+26insA 0.269968 0.3294 0.1854 0.3202 Uncertain 3_64004819_C->T 3 64004819 64004819 C T snp 607.77 1/1 48 16 0 16 1.0 intronic rs2578011 PSMD6 AU NM_001271781 exon5 c.8370+106C>T 0.219249 0.2808 Uncertain 3_64009508_T->C 3 64009508 64009508 T C snp 2200.77 1/1 99 80 0 80 1.0 exonic rs40610 PSMD6 AU nonsynonymous SNV NM_001271780 exon1 c.A4G p.N2D 0.26238 0.4137 0.2355 0.3535 0 D 0.0 P -0.941 T 0.544 P 0.044 P Pathogenic 3_64133350_A->G 3 64133350 64133350 A G snp 4109.77 1/1 99 144 0 144 1.0 exonic rs27673 PRICKLE2 AU synonymous SNV NM_198859 exon7 c.T816C p.D272D 0.983826 1 0.984466 0.9945 1 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000118166.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 3_64145913_T->A 3 64145913 64145913 T A snp 468.77 0/1 99 29 14 15 0.52 intronic rs26942 PRICKLE2 AU NM_198859 exon5 c.61027+160T>A 0.253395 0.4216 Uncertain 3_64184397_G->T 3 64184397 64184397 G T snp 232.84 1/1 18 9 0 9 1.0 ncRNA_exonic rs696017 PRICKLE2-AS3 AU 0.177316 0.3839 Uncertain 3_64184676_G->A 3 64184676 64184676 G A snp 1050.77 1/1 78 36 0 36 1.0 ncRNA_exonic rs695937 PRICKLE2-AS3 AU 0.421725 0.6716 0.3266 0.6805 Uncertain 3_64518994_T->C 3 64518994 64518994 T C snp 5513.77 1/1 99 201 0 201 1.0 intronic rs1017537 ADAMTS9 AU NM_182920 exon3 c.11100+48T>C 0.961262 1 0.940643 0.9706 1 Uncertain 3_64525171_G->A 3 64525171 64525171 G A snp 39.77 0/1 68 4 2 2 0.5 intronic rs11130968 ADAMTS9 AU NM_182920 exon4 c.17124+201G>A 0.655751 0.6349 Uncertain 3_64526612_T->C 3 64526612 64526612 T C snp 225.77 0/1 99 11 4 7 0.64 intronic rs9848764 ADAMTS9 AU NM_182920 exon5 c.18924-158T>C 0.11262 0.2212 Uncertain 3_64526943_G->A 3 64526943 64526943 G A snp 1085.77 0/1 99 95 53 42 0.44 intronic rs3796382 ADAMTS9 AU NM_182920 exon5 c.19058+39G>A 0.121805 0.2202 0.043441 0.0750 0.2220 Uncertain 3_64527378_G->A 3 64527378 64527378 G A snp 153.77 0/1 99 24 17 7 0.29 intronic rs1036918 ADAMTS9 AU NM_182920 exon7 c.19450+82G>A 0.803914 0.7788 Uncertain 3_64527465_C->A 3 64527465 64527465 C A snp 1141.77 0/1 99 114 65 49 0.43 intronic rs1036917 ADAMTS9 AU NM_182920 exon8 c.19667-48C>A 0.240415 0.3046 0.1582 0.3052 Uncertain 3_64532476_G->C 3 64532476 64532476 G C snp 692.77 0/1 99 57 26 31 0.54 exonic rs6787633 ADAMTS9 AU nonsynonymous SNV NM_182920 exon32 c.C5022G p.D1674E 0.127396 0.2202 0.050746 0.0794 0.2212 1 T 1.000 P -0.958 T 0.0 T 0.0 T Pathogenic 3_64547178_T->C 3 64547178 64547178 T C snp 543.77 0/1 99 47 26 21 0.45 ncRNA_exonic rs17071048 ADAMTS9-AS1 AU 0.0910543 0.2232 Uncertain 3_64554254_T->C 3 64554254 64554254 T C snp 2153.77 0/1 99 176 84 92 0.52 ncRNA_intronic rs7635677 ADAMTS9-AS1 AU 0.719848 0.8353 0.603414 0.5661 0.8358 Uncertain 3_64554259_G->A 3 64554259 64554259 G A snp 2154.77 0/1 99 172 80 92 0.53 ncRNA_intronic rs78719559 ADAMTS9-AS1 AU 0.086861 0.2569 0.010764 0.0536 0.2579 Uncertain 3_64580169_C->T 3 64580169 64580169 C T snp 1305.77 0/1 99 101 48 53 0.52 intronic rs13320542 ADAMTS9 AU NM_182920 exon13 c.72264+59C>T 0.566294 0.8105 Uncertain 3_64617070_C->T 3 64617070 64617070 C T snp 856.77 0/1 99 62 28 34 0.55 intronic rs6445420 ADAMTS9 AU NM_182920 exon25 c.109284-60C>T 0.757588 0.9325 Uncertain 3_64633504_A->T 3 64633504 64633504 A T snp 1359.77 1/1 99 42 0 42 1.0 intronic rs12715589 ADAMTS9 AU NM_182920 exon30 c.125769-111A>T 0.613219 0.8611 Uncertain 3_64640207_A->- 3 64640207 64640207 A - indel 8418.73 1/1 99 224 0 224 1.0 intronic rs11326156 ADAMTS9 AU NM_182920 exon34 c.132401-40delA 0.961462 1 0.933557 0.9332 0.9998 Uncertain 3_64640212_G->T 3 64640212 64640212 G T snp 2484.77 0/1 99 222 113 109 0.49 intronic rs59517147 ADAMTS9 AU NM_182920 exon34 c.132401-35G>T 0.51857 0.2143 0.623097 0.5499 0.2442 Uncertain 3_64667059_G->T 3 64667059 64667059 G T snp 1549.77 0/1 99 135 65 70 0.52 intronic rs73124286 ADAMTS9 AU NM_182920 exon38 c.159193+20G>T 0.248403 0.4048 0.237198 0.2821 0.3988 Uncertain 3_65351331_C->T 3 65351331 65351331 C T snp 294.77 0/1 99 22 11 11 0.5 intronic rs74697679 MAGI1 AU NM_004742 exon4 c.3798+710C>T 0.0625 0.002 Uncertain 3_65353448_G->A 3 65353448 65353448 G A snp 2183.77 1/1 99 82 0 82 1.0 intronic rs7634490 MAGI1 AU NM_004742 exon4 c.3798+2827G>A 0.957069 1 Uncertain 3_65416648_C->A 3 65416648 65416648 C A snp 3149.77 1/1 99 100 0 100 1.0 intronic rs4688566 MAGI1 AU NM_004742 exon13 c.69733+92C>A 0.996406 1 Uncertain 3_65425560_-->CTG 3 65425560 65425560 - CTG indel 2369.73 1/1 99 48 0 48 1.0 exonic rs142043619 MAGI1 AU nonframeshift insertion NM_004742 exon9 c.1263_1264insCAG p.T422delinsQT 0.2770 0.4846 ID=COSM1048140,COSM1485456,COSM1048138;OCCURENCE=6(breast),1(urinary_tract),1(endometrium) Uncertain 3_65438714_T->C 3 65438714 65438714 T C snp 65.77 0/1 94 8 5 3 0.38 intronic rs117134662 MAGI1 AU NM_004742 exon18 c.92109-218T>C 0.00778754 0.0387 Uncertain 3_65456198_-->A 3 65456198 65456198 - A indel 476.73 1/1 65 31 0 31 1.0 intronic rs397705804 MAGI1 AU NM_004742 exon19 c.109336+39insA 0.483626 0.6766 0.4648 0.5492 Uncertain 3_65464625_G->A 3 65464625 65464625 G A snp 135.03 1/1 12 4 0 4 1.0 intronic rs7636096 MAGI1 AU NM_004742 exon20 c.117650+152G>A 1 1 Uncertain 3_65464651_A->C 3 65464651 65464651 A C snp 48.74 1/1 6 2 0 2 1.0 intronic rs12631449 MAGI1 AU NM_004742 exon20 c.117650+178A>C 0.353634 0.745 Uncertain 3_65479068_A->C 3 65479068 65479068 A C snp 260.8 1/1 21 7 0 7 1.0 intronic rs7641222 MAGI1 AU NM_004742 exon21 c.132363-118A>C 0.584065 0.7758 Uncertain 3_65583601_GG->- 3 65583601 65583602 GG - indel 2339.73 1/1 99 90 1 89 0.99 intronic rs57059846 MAGI1 AU NM_004742 exon22 c.260823-24045_260823-24044delGG 0.6172 0.9239 Uncertain 3_65607592_-->CA 3 65607592 65607592 - CA indel 501.73 1/1 39 13 0 13 1.0 intronic rs112243102 MAGI1 AU NM_004742 exon22 c.260823-54insCA 0.317292 0.2649 Uncertain 3_65607637_A->G 3 65607637 65607637 A G snp 770.77 1/1 57 30 0 30 1.0 intronic rs3749455 MAGI1 AU NM_004742 exon22 c.260823-9A>G 0.67512 0.3601 0.821775 0.7402 0.3672 Uncertain 3_66023592_A->G 3 66023592 66023592 A G snp 952.77 1/1 69 31 1 30 0.97 intronic rs28696109 MAGI1 AU NM_004742 exon23 c.676847-78A>G 0.75 0.8423 Uncertain 3_66287056_G->A 3 66287056 66287056 G A snp 1070.77 0/1 99 90 40 50 0.56 exonic SLC25A26 AR nonsynonymous SNV NM_173471 exon3 c.G122A p.S41N 0.448482 0.4127 0.403636 0.2863 0.4102 0.31 T 0.963 P -0.939 T 0.0 T 0.0 T Pathogenic 3_66293766_T->C 3 66293766 66293766 T C snp 520.77 0/1 99 38 18 20 0.53 intronic SLC25A26 AR NM_001164796 exon2 c.36+30T>C 0.114816 0.1052 0.172305 0.1807 0.1119 Uncertain 3_66354911_G->C 3 66354911 66354911 G C snp 2977.77 0/1 99 236 115 121 0.51 intronic rs813636 SLC25A26 AR NM_001164796 exon4 c.20103+41108G>C 0.733826 0.7927 0.5551 0.8291 Uncertain 3_66396845_G->A 3 66396845 66396845 G A snp 200.77 0/1 99 31 22 9 0.29 intronic rs332354 SLC25A26 AR NM_001164796 exon5 c.103132+13G>A 0.653754 0.7054 0.540624 0.5169 0.7535 Uncertain 3_66406415_A->G 3 66406415 66406415 A G snp 420.77 0/1 99 49 31 18 0.37 intronic rs783129 SLC25A26 AR NM_001164796 exon6 c.119583-6868A>G 0.662141 0.7103 0.5197 0.7576 Uncertain 3_66413111_G->T 3 66413111 66413111 G T snp 164.77 0/1 57 10 2 8 0.8 intronic rs332387 SLC25A26 AR NM_001164796 exon6 c.119583-172G>T 0.642971 0.6905 Uncertain 3_66413130_T->A 3 66413130 66413130 T A snp 241.77 0/1 99 16 5 11 0.69 intronic rs332386 SLC25A26 AR NM_001164796 exon6 c.119583-153T>A 0.642971 0.6895 Uncertain 3_66419883_T->C 3 66419883 66419883 T C snp 1262.77 0/1 99 104 54 50 0.48 intronic rs2293193 SLC25A26 AR NM_001164796 exon7 c.126201-18T>C 0.340855 0.6746 0.134861 0.3205 0.7198 Uncertain 3_66419956_C->T 3 66419956 66419956 C T snp 1564.77 0/1 99 141 76 65 0.46 exonic rs13874 SLC25A26 AR nonsynonymous SNV NM_001164796 exon7 c.C359T p.T120M 0.679912 0.7659 0.556897 0.5875 0.7822 1 T 0.000 P -0.919 T 0.0 T 0.0 T Pathogenic 3_66431275_G->A 3 66431275 66431275 G A snp 1659.77 0/1 99 115 53 62 0.54 exonic rs118034960 LRIG1 AU synonymous SNV NM_015541 exon18 c.C2781T p.G927G 0.0169728 0.0823 0.000154 0.0056 0.0741 Uncertain 3_66432680_A->G 3 66432680 66432680 A G snp 2455.77 0/1 99 220 114 106 0.48 intronic rs332371 LRIG1 AU NM_015541 exon4 c.2010-16A>G 0.776358 0.8185 0.698139 0.6811 0.8367 Uncertain 3_66433312_A->G 3 66433312 66433312 A G snp 192.77 0/1 99 10 4 6 0.6 intronic rs900172 LRIG1 AU NM_015541 exon5 c.2719-93A>G 0.702077 0.8036 Uncertain 3_66433676_A->G 3 66433676 66433676 A G snp 2359.77 0/1 99 174 85 89 0.51 exonic rs900171 LRIG1 AU synonymous SNV NM_015541 exon15 c.T2221C p.L741L 0.694489 0.8036 0.608565 0.6227 0.8243 Uncertain 3_66434372_-->CACACA 3 66434372 66434372 - CACACA indel 1303.73 ./1 99 24 0 24 1.0 intronic rs3830215 LRIG1 AU NM_015541 exon6 c.3728-42insCACACA 0.185903 0.3363 0.2538 0.4618 Uncertain 3_66434372_-->CA 3 66434372 66434372 - CA indel 1303.73 ./1 99 24 0 24 1.0 intronic rs3830215 LRIG1 AU NM_015541 exon6 c.3728-42insCA 0.0730831 0.006 0.1392 0.0243 Uncertain 3_66434643_T->C 3 66434643 66434643 T C snp 1311.77 0/1 99 99 46 53 0.54 exonic rs2306272 LRIG1 AU nonsynonymous SNV NM_015541 exon14 c.A1843G p.M615V 0.36222 0.7341 0.230278 0.3133 0.7465 0.32 T 0.245 P -0.970 T 0.007 T 0.026 T Pathogenic 3_66444697_A->C 3 66444697 66444697 A C snp 62.77 0/1 91 12 9 3 0.25 intronic rs17775391 LRIG1 AU NM_015541 exon8 c.13941+70A>C 0.360623 0.744 Uncertain 3_66458046_T->C 3 66458046 66458046 T C snp 123.03 1/1 12 4 0 4 1.0 intronic rs9869057 LRIG1 AU NM_015541 exon12 c.27229+131T>C 0.959265 0.9931 Uncertain 3_66463251_G->A 3 66463251 66463251 G A snp 1548.77 1/1 99 45 0 45 1.0 intronic rs4856924 LRIG1 AU NM_015541 exon14 c.32608-43G>A 0.923522 0.9911 0.932339 0.9676 0.9887 Uncertain 3_66465259_T->C 3 66465259 66465259 T C snp 390.77 1/1 30 13 0 13 1.0 intronic rs4856928 LRIG1 AU NM_015541 exon15 c.34657-84T>C 0.664137 0.9544 Uncertain 3_66550756_G->C 3 66550756 66550756 G C snp 1795.77 1/1 99 71 0 71 1.0 exonic rs1403625 LRIG1 AU nonsynonymous SNV NM_015541 exon1 c.C76G p.L26V 0.719848 0.8284 0.814792 0.9170 0.8259 0.38 T 0.0 P -0.900 T 0.827 T 0.257 P Pathogenic 3_66550762_G->C 3 66550762 66550762 G C snp 1747.77 1/1 99 74 0 74 1.0 exonic rs1403626 LRIG1 AU nonsynonymous SNV NM_015541 exon1 c.C70G p.L24V 0.719848 0.8284 0.811598 0.9179 0.8277 0.37 T 0.025 P -0.956 T 0.546 P 0.146 P Pathogenic 3_67048762_T->C 3 67048762 67048762 T C snp 904.77 1/1 66 36 0 36 1.0 UTR5 rs4856833 KBTBD8 AU 0.897764 0.9782 0.8322 0.97 Uncertain 3_67276059_G->T 3 67276059 67276059 G T snp 267.8 1/1 21 8 0 8 1.0 downstream rs9868022 MIR4272 AU 0.938898 0.9593 Uncertain 3_67411103_C->T 3 67411103 67411103 C T snp 870.77 0/1 99 86 45 41 0.48 exonic rs902320 SUCLG2 AU nonsynonymous SNV NM_001177599 exon11 c.G1273A p.V425I 0.220048 0.2629 0.2177 0.2475 1 T 0.0 P -1.063 T Pathogenic 3_67411166_A->G 3 67411166 67411166 A G snp 642.77 0/1 99 52 23 29 0.56 exonic rs902321 SUCLG2 AU nonsynonymous SNV NM_001177599 exon11 c.T1210C p.Y404H 0.384784 0.4573 0.3326 0.4747 0 D 0.000 P -0.961 T Pathogenic 3_67426125_C->T 3 67426125 67426125 C T snp 44.77 0/1 33 3 1 2 0.67 UTR3 rs1065399 SUCLG2 AU 0.68151 0.7381 0.679165 0.6684 0.7463 Uncertain 3_67459492_G->T 3 67459492 67459492 G T snp 1139.77 0/1 99 85 39 46 0.54 intronic rs9824745 SUCLG2 AU NM_001177599 exon2 c.40223+8217G>T 0.832668 0.87 0.7984 0.9031 Uncertain 3_67660040_G->A 3 67660040 67660040 G A snp 702.77 0/1 99 75 43 32 0.43 intronic rs2290174 SUCLG2 AU NM_001177599 exon10 c.248968+20G>A 0.447684 0.4385 0.513074 0.4230 0.4165 Uncertain 3_67660049_A->G 3 67660049 67660049 A G snp 579.77 0/1 99 69 39 30 0.43 intronic rs2290175 SUCLG2 AU NM_001177599 exon10 c.248968+29A>G 0.447684 0.4385 0.512333 0.4234 0.4167 Uncertain 3_67705170_C->T 3 67705170 67705170 C T snp 35.77 0/1 64 4 2 2 0.5 ncRNA_exonic rs13076100 SUCLG2-AS1 AU 0.252396 0.2798 Uncertain 3_68593493_C->T 3 68593493 68593493 C T snp 1527.77 0/1 99 94 38 56 0.6 intronic rs77715992 FAM19A1 AU NM_001252216 exon5 c.537867-143C>T 0.0195687 0.0655 Uncertain 3_68685499_G->T 3 68685499 68685499 G T snp 56.74 1/1 6 2 0 2 1.0 intergenic rs143085341 FAM19A1 AU 0.0207668 0.0754 Uncertain 3_68782213_A->G 3 68782213 68782213 A G snp 1183.77 0/1 99 107 60 47 0.44 UTR3 rs6549143 FAM19A4 AU 0.695487 0.9058 0.598993 Uncertain 3_68788363_G->T 3 68788363 68788363 G T snp 2867.77 0/1 99 225 102 123 0.55 intronic rs1504301 FAM19A4 AU NM_182522 exon2 c.6058+13G>T 0.679313 0.8988 0.567200 0.6600 0.9153 Uncertain 3_68788465_G->T 3 68788465 68788465 G T snp 894.77 1/1 66 24 0 24 1.0 intronic rs1504300 FAM19A4 AU NM_182522 exon2 c.6058+115G>T 0.74401 0.9732 Uncertain 3_69036516_C->T 3 69036516 69036516 C T snp 57.77 0/1 86 15 11 4 0.27 intronic rs536272903 EOGT AR NM_173654 exon5 c.9827-79C>T 0.00439297 0.0188 Uncertain 3_69036525_A->- 3 69036525 69036525 A - indel 35.73 0/1 73 20 15 5 0.25 intronic rs11331317 EOGT AR NM_173654 exon5 c.9827-70delA 0.47484 0.5308 Uncertain 3_69036678_G->C 3 69036678 69036678 G C snp 1882.77 0/1 99 192 107 85 0.44 intronic rs4855540 EOGT AR NM_173654 exon5 c.9896+14G>C 0.227436 0.376 0.196247 0.2743 0.3568 Uncertain 3_69036683_G->A 3 69036683 69036683 G A snp 1831.77 0/1 99 192 107 85 0.44 intronic rs4855541 EOGT AR NM_173654 exon5 c.9896+19G>A 0.43111 0.5506 0.341818 0.3888 0.5383 Uncertain 3_69036782_G->T 3 69036782 69036782 G T snp 602.77 0/1 99 61 37 24 0.39 intronic rs4855350 EOGT AR NM_173654 exon5 c.9896+118G>T 0.419928 0.5506 Uncertain 3_69038088_A->G 3 69038088 69038088 A G snp 855.77 0/1 99 65 26 39 0.6 intronic rs13085120 EOGT AR NM_001278689 exon8 c.11307+13A>G 0.17492 0.2401 0.2155 0.2424 Uncertain 3_69047141_G->A 3 69047141 69047141 G A snp 2221.77 0/1 99 189 95 94 0.5 intronic rs4855544 EOGT AR NM_173654 exon6 c.20393-20G>A 0.34365 0.5119 0.240197 0.3359 0.5065 Uncertain 3_69054213_A->- 3 69054213 69054213 A - indel 84.73 0/1 58 14 5 9 0.64 intronic rs11320020 EOGT AR NM_173654 exon9 c.27522-77delA 0.50639 0.505 Uncertain 3_69054266_-->T 3 69054266 69054266 - T indel 1622.73 0/1 99 111 64 47 0.42 intronic rs11417320 EOGT AR NM_173654 exon9 c.27522-24insT 0.396366 0.5169 0.302684 0.3557 0.5198 Uncertain 3_69054341_T->C 3 69054341 69054341 T C snp 3276.77 0/1 99 250 117 133 0.53 exonic rs6781612 EOGT AR synonymous SNV NM_173654 exon7 c.A465G p.R155R 0.382987 0.5169 0.287098 0.3477 0.5155 Uncertain 3_69054611_A->G 3 69054611 69054611 A G snp 300.77 0/1 99 15 6 9 0.6 intronic rs6549170 EOGT AR NM_173654 exon9 c.27617+226A>G 0.396765 0.5169 Uncertain 3_69058783_C->T 3 69058783 69058783 C T snp 1155.77 0/1 99 96 44 52 0.54 splicing rs56761230 EOGT AR NM_173654 exon12 c.32019-4C>T 0.33127 0.5228 0.248193 0.3053 0.5190 Pathogenic 3_69073410_G->A 3 69073410 69073410 G A snp 106.77 0/1 63 9 3 6 0.67 intronic rs3772976 TMF1 AU NM_007114 exon2 c.1004+79G>A 0.271366 0.4236 Uncertain 3_69073420_TT->- 3 69073420 69073421 TT - indel 110.73 0/1 42 9 2 7 0.78 intronic rs201235194 TMF1 AU NM_007114 exon2 c.1004+89_1004+90delTT Uncertain 3_69074930_G->A 3 69074930 69074930 G A snp 200.77 0/1 99 30 20 10 0.33 intronic rs2279936 TMF1 AU NM_007114 exon3 c.2536+67G>A 0.179313 0.2173 Uncertain 3_69082657_T->C 3 69082657 69082657 T C snp 2022.77 0/1 99 136 55 81 0.6 intronic rs937859 TMF1 AU NM_007114 exon8 c.10371-41T>C 0.3127 0.4276 0.301682 0.3488 0.4299 Uncertain 3_69082873_G->T 3 69082873 69082873 G T snp 1591.77 0/1 99 110 49 61 0.55 intronic rs937858 TMF1 AU NM_007114 exon8 c.10528+18G>T 0.295327 0.4246 0.237726 0.2776 0.4273 Uncertain 3_69084062_G->C 3 69084062 69084062 G C snp 858.77 0/1 99 66 33 33 0.5 intronic rs2055685 TMF1 AU NM_007114 exon9 c.11846-111G>C 0.331869 0.5228 Uncertain 3_69084161_C->A 3 69084161 69084161 C A snp 2750.77 0/1 99 249 134 115 0.46 intronic rs2271121 TMF1 AU NM_007114 exon9 c.11846-12C>A 0.336861 0.5218 0.252872 0.2997 0.5174 Uncertain 3_69091640_C->T 3 69091640 69091640 C T snp 1134.77 1/1 81 41 0 41 1.0 intronic rs9985501 TMF1 AU NM_007114 exon13 c.19630-317C>T 0.977236 0.8978 Uncertain 3_69091716_T->C 3 69091716 69091716 T C snp 835.77 0/1 99 80 47 33 0.41 intronic rs2271120 TMF1 AU NM_007114 exon13 c.19630-241T>C 0.174321 0.2173 0.2531 0.2727 Uncertain 3_69093598_T->C 3 69093598 69093598 T C snp 141.77 0/1 99 15 9 6 0.4 intronic rs2271118 TMF1 AU NM_007114 exon15 c.21315-44T>C 0.796725 0.6835 0.835328 0.8116 0.6619 Uncertain 3_69096614_G->A 3 69096614 69096614 G A snp 2983.77 0/1 99 250 134 116 0.46 exonic rs2292199 TMF1 AU synonymous SNV NM_007114 exon2 c.C1242T p.S414S 0.772764 0.6796 0.811675 0.7976 0.6470 Uncertain 3_69104695_T->A 3 69104695 69104695 T A snp 583.77 1/1 42 24 0 24 1.0 intronic rs6549179 UBA3 AU NM_003968 exon1 c.89+19T>A 0.954273 0.8978 0.973992 0.9859 0.9200 Uncertain 3_69104752_C->T 3 69104752 69104752 C T snp 345.78 1/1 27 11 0 11 1.0 intronic rs6549180 UBA3 AU NM_003968 exon1 c.89+76C>T 0.954273 0.8978 Uncertain 3_69106304_C->T 3 69106304 69106304 C T snp 1178.77 0/1 99 99 52 47 0.47 intronic rs1866264 UBA3 AU NM_003968 exon7 c.1819-102C>T 0.302516 0.4226 Uncertain 3_69106305_C->G 3 69106305 69106305 C G snp 1176.77 0/1 99 102 53 49 0.48 intronic rs1866265 UBA3 AU NM_003968 exon7 c.1819-101C>G 0.339257 0.4226 Uncertain 3_69111488_A->T 3 69111488 69111488 A T snp 256.8 1/1 21 7 0 7 1.0 intronic rs6800465 UBA3 AU NM_003968 exon9 c.6743+158A>T 0.606829 0.7976 Uncertain 3_69112049_C->T 3 69112049 69112049 C T snp 1237.77 1/1 90 43 1 42 0.98 intronic rs2289245 UBA3 AU NM_003968 exon10 c.7545-83C>T 0.541933 0.7956 Uncertain 3_69113153_T->C 3 69113153 69113153 T C snp 456.77 0/1 99 50 27 23 0.46 intronic rs13090606 UBA3 AU NM_003968 exon12 c.8631-65T>C 0.226238 0.3353 0.184153 Uncertain 3_69127133_T->C 3 69127133 69127133 T C snp 1715.77 0/1 99 153 78 75 0.49 intronic rs3772979 UBA3 AU NM_003968 exon16 c.22482+64T>C 0.267372 0.375 Uncertain 3_69137219_C->T 3 69137219 69137219 C T snp 214.84 1/1 18 6 0 6 1.0 intronic rs3853158 ARL6IP5 AU NM_006407 exon1 c.176+2845C>T 0.438698 0.499 Uncertain 3_69137539_T->C 3 69137539 69137539 T C snp 1170.77 1/1 84 37 0 37 1.0 intronic rs3853159 ARL6IP5 AU NM_006407 exon1 c.176+3165T>C 0.553514 0.5565 Uncertain 3_69151152_C->A 3 69151152 69151152 C A snp 3504.77 1/1 99 129 2 127 0.98 exonic rs10489 ARL6IP5 AU synonymous SNV NM_006407 exon2 c.C339A p.I113I 0.165335 0.3452 0.080424 0.0858 0.3726 1.000 P -1.064 T Likely benign 3_69153481_C->T 3 69153481 69153481 C T snp 727.77 1/1 54 19 0 19 1.0 intronic rs3772980 ARL6IP5 AU NM_006407 exon3 c.19416-133C>T 0.137181 0.2946 Uncertain 3_69153854_G->T 3 69153854 69153854 G T snp 3227.04 1/1 99 110 0 110 1.0 UTR3 rs7038 ARL6IP5 AU 0.533347 0.6071 Uncertain 3_69158094_T->G 3 69158094 69158094 T G snp 1500.77 1/1 99 47 0 47 1.0 UTR3 rs1131960 LMOD3 AR 0.0986422 0.2341 Uncertain 3_69158231_T->C 3 69158231 69158231 T C snp 4984.77 1/1 99 187 0 187 1.0 UTR3 rs60474520 LMOD3 AR 0.0988419 0.2351 0.022055 0.0821 0.3603 Uncertain 3_69168864_C->T 3 69168864 69168864 C T snp 4659.77 1/1 99 141 0 141 1.0 exonic rs9815992 LMOD3 AR synonymous SNV NM_198271 exon2 c.G642A p.S214S 0.102037 0.1905 0.040656 0.0480 0.2455 Uncertain 3_69225911_A->G 3 69225911 69225911 A G snp 99.28 1/1 9 3 0 3 1.0 intronic rs9868107 FRMD4B AU NM_015123 exon2 c.4796+104A>G 0.955471 0.9226 Uncertain 3_69229976_G->C 3 69229976 69229976 G C snp 772.77 1/1 57 28 0 28 1.0 intronic rs12054011 FRMD4B AU NM_015123 exon3 c.9038-73G>C 0.915735 0.9216 Uncertain 3_69230026_T->C 3 69230026 69230026 T C snp 1882.77 1/1 99 63 0 63 1.0 intronic rs9818314 FRMD4B AU NM_015123 exon3 c.9038-23T>C 0.913938 0.9226 0.932846 0.9746 0.9317 Uncertain 3_69242756_C->T 3 69242756 69242756 C T snp 1571.77 1/1 99 50 0 50 1.0 intronic rs7635306 FRMD4B AU NM_015123 exon7 c.21787-42C>T 0.139377 0.2361 0.065169 0.1158 0.3840 Uncertain 3_69242771_A->- 3 69242771 69242771 A - indel 1962.73 1/1 99 72 2 70 0.97 intronic rs11310698 FRMD4B AU NM_015123 exon7 c.21787-27delA 0.893371 0.9802 0.8861 0.9549 Uncertain 3_69245454_T->C 3 69245454 69245454 T C snp 5180.77 1/1 99 197 0 197 1.0 exonic rs9310141 FRMD4B AU nonsynonymous SNV NM_015123 exon14 c.A1186G p.T396A 0.969848 1 0.967515 0.9914 1 0.52 T 0.003 P -0.952 T 0.0 T 0.0 T Pathogenic 3_69246413_T->C 3 69246413 69246413 T C snp 96.28 1/1 9 3 0 3 1.0 intronic rs6549187 FRMD4B AU NM_015123 exon11 c.25178+224T>C 0.844449 0.9028 Uncertain 3_69265291_T->C 3 69265291 69265291 T C snp 261.8 1/1 21 8 0 8 1.0 intronic rs7643175 FRMD4B AU NM_015123 exon13 c.44402-122T>C 0.975839 1 Uncertain 3_69265304_-->A 3 69265304 69265304 - A indel 391.14 0/1 10 18 2 16 0.89 intronic rs398105993 FRMD4B AU NM_015123 exon13 c.44402-109insA 0.853235 0.9871 Uncertain 3_69265371_G->C 3 69265371 69265371 G C snp 4584.77 1/1 99 164 0 164 1.0 intronic rs62254460 FRMD4B AU NM_015123 exon13 c.44402-42G>C 0.855232 0.9911 0.812615 0.8914 0.9923 Uncertain 3_69267578_A->T 3 69267578 69267578 A T snp 917.77 1/1 66 36 0 36 1.0 intronic rs4855301 FRMD4B AU NM_015123 exon14 c.46519+48A>T 0.854433 0.9911 0.809798 0.8922 0.9912 Uncertain 3_69271206_T->C 3 69271206 69271206 T C snp 2465.77 1/1 99 80 0 80 1.0 intronic rs6549189 FRMD4B AU NM_015123 exon15 c.50063+132T>C 0.975439 1 Uncertain 3_69273656_G->T 3 69273656 69273656 G T snp 5035.77 1/1 99 168 0 168 1.0 intronic rs9848940 FRMD4B AU NM_015123 exon16 c.52746-101G>T 0.982428 1 Uncertain 3_69336740_A->G 3 69336740 69336740 A G snp 219.77 0/1 99 16 9 7 0.44 intronic rs4855381 FRMD4B AU NM_015123 exon19 c.115891-162A>G 0.501597 0.497 Uncertain 3_69359731_ACAGAGAGAGAGAG->- 3 69359731 69359744 ACAGAGAGAGAGAG - indel 5807.73 1/1 99 66 0 66 1.0 intronic rs142506790 FRMD4B AU NM_015123 exon21 c.139402-682_139402-669delACAGAGAGAGAGAG Uncertain 3_69362706_C->T 3 69362706 69362706 C T snp 3491.77 1/1 99 122 0 122 1.0 intronic rs1483895 FRMD4B AU NM_015123 exon22 c.141657+38C>T 0.607029 0.5863 0.696426 0.7477 0.6390 Uncertain 3_69362908_T->G 3 69362908 69362908 T G snp 129.03 1/1 12 4 0 4 1.0 intronic rs1483894 FRMD4B AU NM_015123 exon22 c.141657+240T>G 0.991613 1 Uncertain 3_69788712_T->C 3 69788712 69788712 T C snp 1992.77 0/1 99 164 81 83 0.51 intergenic FRMD4B AU Uncertain 3_71007357_AAAAG->- 3 71007357 71007361 AAAAG - indel 915.73 0/1 99 37 13 24 0.65 UTR3 rs549654259 FOXP1 AD Uncertain 3_71007366_G->T 3 71007366 71007366 G T snp 422.77 0/1 99 47 26 21 0.45 UTR3 rs548648975 FOXP1 AD Uncertain 3_71015021_G->T 3 71015021 71015021 G T snp 798.77 1/1 60 26 0 26 1.0 intronic rs7638391 FOXP1 AD NM_001244815 exon2 c.6643-19G>T 0.974641 1 0.941258 0.9452 0.9999 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000082307.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 3_71019750_T->C 3 71019750 71019750 T C snp 802.77 1/1 60 26 0 26 1.0 intronic rs9874207 FOXP1 AD NM_001244815 exon3 c.11489-136T>C 0.770567 0.999 Uncertain 3_71036994_A->G 3 71036994 71036994 A G snp 225.84 1/1 18 7 0 7 1.0 intronic rs6802472 FOXP1 AD NM_001244815 exon8 c.28747-150A>G 0.619209 0.8849 Uncertain 3_71161838_G->A 3 71161838 71161838 G A snp 2264.77 1/1 99 81 0 81 1.0 intronic rs17008224 FOXP1 AD NM_001244815 exon15 c.153391+50G>A 0.0569089 0.1974 0.004613 0.0298 0.1949 Uncertain 3_71162001_G->A 3 71162001 71162001 G A snp 182.9 1/1 15 5 0 5 1.0 intronic rs3843363 FOXP1 AD NM_001244815 exon15 c.153391+213G>A 0.47524 0.3284 Uncertain 3_71246918_C->T 3 71246918 71246918 C T snp 46.77 0/1 33 4 2 2 0.5 intronic rs2293137 FOXP1 AD NM_001244814 exon16 c.238955-434C>T 0.238419 0.3214 Uncertain 3_71247304_A->G 3 71247304 71247304 A G snp 3293.77 0/1 99 250 127 123 0.49 intronic rs2037474 FOXP1 AD NM_001244814 exon16 c.238955-48A>G 0.282348 0.4355 0.165693 0.2009 0.4076 Uncertain 3_71247576_A->T 3 71247576 71247576 A T snp 416.77 1/1 36 17 0 17 1.0 intronic rs9855825 FOXP1 AD NM_001244814 exon16 c.239146+33A>T 0.621605 0.8472 0.663618 0.7437 0.8856 Uncertain 3_71739070_A->G 3 71739070 71739070 A G snp 139.03 1/1 12 4 0 4 1.0 intronic rs949642 EIF4E3 AU NM_001134651 exon2 c.5328-90A>G 0.358227 0.6935 Uncertain 3_71745400_C->T 3 71745400 71745400 C T snp 120.77 0/1 62 6 2 4 0.67 intronic rs9876950 EIF4E3 AU NM_001134651 exon4 c.11778-210C>T 0.402955 0.503 Uncertain 3_71748643_T->C 3 71748643 71748643 T C snp 1217.77 0/1 99 95 44 51 0.54 intronic rs1447905 EIF4E3 AU NM_001134651 exon5 c.14932-121T>C 0.192093 0.3591 Uncertain 3_71748911_A->T 3 71748911 71748911 A T snp 644.77 0/1 99 55 32 23 0.42 intronic rs62246325 EIF4E3 AU NM_001134651 exon5 c.15027+52A>T 0.195288 0.3591 0.143045 Uncertain 3_71759717_C->G 3 71759717 71759717 C G snp 121.77 0/1 99 8 3 5 0.63 intronic rs12487242 EIF4E3 AU NM_001134651 exon6 c.25803+82C>G 0.382588 0.494 Uncertain 3_71803174_C->A 3 71803174 71803174 C A snp 137.77 0/1 99 15 10 5 0.33 intronic rs3732739 EIF4E3 AU NM_001134649 exon8 c.69533-191C>A 0.199081 0.2877 0.6415 . Uncertain 3_71823582_C->T 3 71823582 71823582 C T snp 1580.77 0/1 99 175 101 74 0.42 intronic rs3796224 PROK2 AD NM_001126128 exon2 c.1721-13C>T 0.197484 0.2698 0.110162 0.1993 0.2748 Uncertain 3_72495593_-->A 3 72495593 72495593 - A indel 181.73 0/1 99 35 11 24 0.69 intronic rs11460842 RYBP AU NM_012234 exon4 c.68111-53insA 0.527356 0.5536 Uncertain 3_72495777_C->G 3 72495777 72495777 C G snp 5914.77 1/1 99 195 0 195 1.0 upstream rs13066407 RYBP AU 0.980831 1 0.979563 0.9896 0.9352 -1.014 T Uncertain 3_72495945_A->G 3 72495945 72495945 A G snp 6222.77 1/1 99 224 0 224 1.0 upstream rs13088771 RYBP AU 0.984026 1 0.9962 1 0.09 T -1.018 T Uncertain 3_72891736_A->T 3 72891736 72891736 A T snp 50.74 1/1 6 2 0 2 1.0 intronic rs2036446 SHQ1 AU NM_018130 exon9 c.92119+183A>T 0.58107 0.6637 Uncertain 3_73004157_T->G 3 73004157 73004157 T G snp 735.77 0/1 99 56 27 29 0.52 intronic rs1532190 GXYLT2 AU NM_001080393 exon4 c.66864-91T>G 0.275759 0.1409 Uncertain 3_73016635_C->G 3 73016635 73016635 C G snp 383.77 1/1 30 10 0 10 1.0 intronic rs3732442 GXYLT2 AU NM_001080393 exon6 c.79313-62C>G 0.609824 0.6081 Uncertain 3_73016974_A->G 3 73016974 73016974 A G snp 1759.77 1/1 99 59 0 59 1.0 intronic rs3821379 GXYLT2 AU NM_001080393 exon6 c.79486+104A>G 0.607628 0.6052 Uncertain 3_73024350_C->A 3 73024350 73024350 C A snp 4950.77 1/1 99 188 0 188 1.0 UTR3 rs1052278 GXYLT2 AU 0.554712 0.5268 0.601767 0.5988 0.5446 Uncertain 3_73046461_C->G 3 73046461 73046461 C G snp 250.77 0/1 99 33 21 12 0.36 intronic PPP4R2 AU NM_174907 exon1 c.34+239C>G Uncertain 3_73046508_G->C 3 73046508 73046508 G C snp 584.77 0/1 99 38 14 24 0.63 intronic rs9834246 PPP4R2 AU NM_174907 exon1 c.34+286G>C 0.574681 0.4534 Uncertain 3_73046544_T->C 3 73046544 73046544 T C snp 605.77 0/1 99 44 19 25 0.57 intronic rs9310254 PPP4R2 AU NM_174907 exon1 c.34+322T>C 0.532947 0.4534 Uncertain 3_73046561_C->T 3 73046561 73046561 C T snp 549.77 0/1 99 50 25 25 0.5 intronic rs9873229 PPP4R2 AU NM_174907 exon1 c.34+339C>T 0.318091 0.0982 Uncertain 3_73096591_-->TAAT 3 73096591 73096591 - TAAT indel 1187.73 0/1 99 30 11 19 0.63 intronic rs71126828 PPP4R2 AU NM_174907 exon3 c.50319+84insTAAT 0.519569 0.4484 Uncertain 3_73110076_G->A 3 73110076 73110076 G A snp 549.77 0/1 99 49 23 26 0.53 intronic rs726029 PPP4R2 AU NM_174907 exon5 c.63985-97G>A 0.517772 0.4494 Uncertain 3_73111368_T->C 3 73111368 73111368 T C snp 1073.77 0/1 99 108 60 48 0.44 exonic rs2231924 EBLN2 AU nonsynonymous SNV NM_018029 exon1 c.T136C p.S46P 0.526558 0.4514 0.547038 0.5861 0.5191 0.47 T 0.0 P -0.949 T 0.0 T 0.0 T Pathogenic 3_73111809_A->G 3 73111809 73111809 A G snp 2394.77 0/1 99 183 89 94 0.51 exonic rs2231926 EBLN2 AU nonsynonymous SNV NM_018029 exon1 c.A577G p.I193V 0.526158 0.4504 0.551719 0.5131 0.4351 1 T 0.0 P -0.941 T 0.0 T 0.0 T Pathogenic 3_73111973_A->G 3 73111973 73111973 A G snp 2840.77 0/1 99 248 134 114 0.46 exonic rs2231928 EBLN2 AU synonymous SNV NM_018029 exon1 c.A741G p.P247P 0.614816 0.4931 0.617836 0.5379 0.4749 Uncertain 3_73111998_C->T 3 73111998 73111998 C T snp 2965.77 0/1 99 250 126 124 0.5 exonic rs1060584 EBLN2 AU nonsynonymous SNV NM_018029 exon1 c.C766T p.L256F 0.525958 0.4504 0.549843 0.5126 0.4321 0.36 T 0.0 P -0.950 T 0.0 T 0.0 T Pathogenic 3_73112919_-->A 3 73112919 73112919 - A indel 1369.73 0/1 99 76 37 39 0.51 intronic rs3841614 PPP4R2 AU NM_174907 exon6 c.66710+21insA 0.51278 0.4484 0.529877 0.5120 0.4350 Uncertain 3_73112974_A->T 3 73112974 73112974 A T snp 603.77 0/1 99 59 31 28 0.47 intronic rs11708712 PPP4R2 AU NM_174907 exon6 c.66710+76A>T 0.525958 0.4494 Uncertain 3_73433369_G->A 3 73433369 73433369 G A snp 965.77 0/1 99 133 84 49 0.37 exonic rs3205537 PDZRN3 AU nonsynonymous SNV NM_001303139 exon8 c.C1442T p.A481V 0.272364 0.4435 0.255190 0.3232 0.4634 0.37 T 0.000 P -0.903 T 0.174 T 0.011 T Pathogenic 3_73433494_T->C 3 73433494 73433494 T C snp 4405.77 1/1 99 158 1 157 0.99 exonic rs13091636 PDZRN3 AU synonymous SNV NM_001303139 exon8 c.A1317G p.S439S 0.358227 0.5357 0.363448 0.4283 0.5785 Uncertain 3_73434086_A->G 3 73434086 73434086 A G snp 1095.77 0/1 99 102 56 46 0.45 splicing rs6787588 PDZRN3 AU NM_001303142 exon1 c.1566+5A>G 0.344449 0.3125 0.368599 0.3373 0.3176 Pathogenic 3_73437112_A->G 3 73437112 73437112 A G snp 2014.77 1/1 99 80 0 80 1.0 intronic rs6549532 PDZRN3 AU NM_001303142 exon3 c.4603-6A>G 0.782348 0.8591 0.749346 0.7263 0.8706 Uncertain 3_73437225_-->A 3 73437225 73437225 - A indel 339.73 1/1 39 16 0 16 1.0 splicing rs3830251 PDZRN3 AU NM_001303142 exon3 c.4705+5insA 0.513578 0.6101 0.582742 0.6415 0.8204 Pathogenic 3_73438828_C->G 3 73438828 73438828 C G snp 420.77 0/1 99 41 25 16 0.39 intronic rs2306507 PDZRN3 AU NM_001303142 exon4 c.6451-138C>G 0.155551 0.1637 Uncertain 3_73440108_-->A 3 73440108 73440108 - A indel 476.73 0/1 99 49 23 26 0.53 intronic rs35427155 PDZRN3 AU NM_001303142 exon5 c.7653-60insA Uncertain 3_73450198_G->A 3 73450198 73450198 G A snp 1410.77 0/1 99 115 58 57 0.5 intronic rs3816831 PDZRN3 AU NM_001303142 exon6 c.17645+38G>A 0.113219 0.13 0.123251 0.1411 0.1104 Uncertain 3_73453201_C->T 3 73453201 73453201 C T snp 678.77 1/1 51 23 0 23 1.0 intronic rs2291464 PDZRN3 AU NM_001303142 exon7 c.20783-97C>T 0.658946 0.8353 Uncertain 3_73453325_C->T 3 73453325 73453325 C T snp 2344.77 1/1 99 86 0 86 1.0 exonic rs2291463 PDZRN3 AU synonymous SNV NM_001303139 exon2 c.G234A p.V78V 0.601637 0.8353 0.534676 0.5936 0.8472 Uncertain 3_73457560_A->G 3 73457560 73457560 A G snp 54.74 1/1 6 2 0 2 1.0 intronic rs1488128 PDZRN3 AU NM_001303142 exon7 c.21031+4014A>G 0.661142 0.8492 Uncertain 3_73651383_A->T 3 73651383 73651383 A T snp 1034.77 0/1 99 54 16 38 0.7 intronic rs6809923 PDZRN3 AU NM_015009 exon8 c.218989-121A>T 0.4998 0.6687 Uncertain 3_73651469_C->T 3 73651469 73651469 C T snp 2287.77 0/1 99 185 85 100 0.54 intronic rs6797804 PDZRN3 AU NM_015009 exon8 c.218989-35C>T 0.71865 0.6954 0.695294 0.6523 0.7009 Uncertain 3_73651622_A->- 3 73651622 73651622 A - indel 2009.73 1/1 99 84 0 84 1.0 intronic rs11343439 PDZRN3 AU NM_015009 exon8 c.219097+10delA 0.892772 0.9147 0.8618 0.8909 Uncertain 3_73673578_G->C 3 73673578 73673578 G C snp 1849.77 1/1 99 58 0 58 1.0 exonic rs6763344 PDZRN3 AU synonymous SNV NM_015009 exon1 c.C399G p.A133A 0.922324 0.9385 0.8613 0.9 Uncertain 3_74315580_C->G 3 74315580 74315580 C G snp 5506.77 1/1 99 188 0 188 1.0 intronic rs615824 CNTN3 AU NM_020872 exon2 c.2080-51C>G 0.827077 0.9702 0.795082 Uncertain 3_74350997_T->C 3 74350997 74350997 T C snp 1533.77 0/1 99 140 79 61 0.44 intronic rs475988 CNTN3 AU NM_020872 exon9 c.37405+41T>C 0.517572 0.7054 0.336768 0.3706 0.7416 Uncertain 3_74352061_T->C 3 74352061 74352061 T C snp 135.77 0/1 99 14 8 6 0.43 intronic rs672784 CNTN3 AU NM_020872 exon10 c.38407+103T>C 0.512181 0.7054 Uncertain 3_74413676_T->C 3 74413676 74413676 T C snp 2990.77 0/1 99 250 127 123 0.49 exonic rs6549590 CNTN3 AU synonymous SNV NM_020872 exon9 c.A1155G p.Q385Q 0.45008 0.4653 0.472397 0.5126 0.4720 Uncertain 3_74473793_A->C 3 74473793 74473793 A C snp 164.9 1/1 15 5 0 5 1.0 intronic rs13095169 CNTN3 AU NM_020872 exon19 c.160444-202A>C 0.585863 0.8135 Uncertain 3_74474166_T->C 3 74474166 74474166 T C snp 678.77 1/1 51 20 0 20 1.0 intronic rs7619184 CNTN3 AU NM_020872 exon19 c.160540+75T>C 0.586262 0.8145 Uncertain 3_75263364_T->G 3 75263364 75263364 T G snp 96.28 1/1 9 3 0 3 1.0 intergenic rs7637795 CNTN3 AU 0.563898 0.7302 Uncertain 3_75263365_T->C 3 75263365 75263365 T C snp 99.28 1/1 9 3 0 3 1.0 intergenic rs7637796 CNTN3 AU 0.563898 0.7302 Uncertain 3_75263722_A->G 3 75263722 75263722 A G snp 347.78 1/1 27 9 0 9 1.0 intergenic rs7635785 CNTN3 AU 0.568091 0.7302 0.4589 0.6959 Uncertain 3_75386297_G->A 3 75386297 75386297 G A snp 898.77 1/1 66 29 0 29 1.0 intergenic rs6769147 CNTN3 AU 0.414736 0.4444 Uncertain 3_75386380_T->G 3 75386380 75386380 T G snp 1242.77 1/1 90 47 0 47 1.0 intergenic rs4677501 CNTN3 AU 0.951877 0.9911 Uncertain 3_75679836_C->T 3 75679836 75679836 C T snp 123.77 0/1 99 12 6 6 0.5 upstream rs112470320 MIR1324 AU Uncertain 3_75679843_G->A 3 75679843 75679843 G A snp 70.77 0/1 99 21 17 4 0.19 upstream MIR1324 AU Uncertain 3_75679850_C->G 3 75679850 75679850 C G snp 38.77 0/1 67 32 27 5 0.16 upstream MIR1324 AU Uncertain 3_75679863_C->G 3 75679863 75679863 C G snp 788.77 0/1 99 54 25 29 0.54 upstream rs200309015 MIR1324 AU Uncertain 3_75679866_T->A 3 75679866 75679866 T A snp 219.77 0/1 99 56 44 12 0.21 upstream MIR1324 AU Uncertain 3_75679872_C->T 3 75679872 75679872 C T snp 102.77 0/1 99 76 67 9 0.12 upstream rs10155042 MIR1324 AU 0.0542 0.1 Uncertain 3_75679876_G->A 3 75679876 75679876 G A snp 580.77 0/1 99 83 61 22 0.27 upstream rs150592543 MIR1324 AU 0.9348 0.7917 Uncertain 3_75679881_C->T 3 75679881 75679881 C T snp 510.77 0/1 99 92 70 22 0.24 upstream MIR1324 AU Uncertain 3_75679891_G->A 3 75679891 75679891 G A snp 1169.77 0/1 99 119 76 43 0.36 upstream rs199591931 MIR1324 AU Uncertain 3_75679892_G->C 3 75679892 75679892 G C snp 362.77 0/1 99 124 102 22 0.18 upstream MIR1324 AU Uncertain 3_75679893_C->T 3 75679893 75679893 C T snp 1841.77 0/1 99 127 32 95 0.75 upstream rs200917196 MIR1324 AU 0.5307 0.5039 Uncertain 3_75679899_T->A 3 75679899 75679899 T A snp 1565.77 0/1 99 161 102 59 0.37 upstream rs147499452 MIR1324 AU Uncertain 3_75679910_C->T 3 75679910 75679910 C T snp 63.77 0/1 92 223 208 15 0.07 upstream MIR1324 AU Uncertain 3_75679914_C->T 3 75679914 75679914 C T snp 1355.77 0/1 99 237 179 58 0.24 ncRNA_exonic MIR1324 AU Uncertain 3_75679915_C->T 3 75679915 75679915 C T snp 1302.77 0/1 99 245 185 60 0.24 ncRNA_exonic rs772045859 MIR1324 AU 0.0010 0 Uncertain 3_75679930_A->C 3 75679930 75679930 A C snp 4085.77 0/1 99 250 87 163 0.65 ncRNA_exonic rs149769501 MIR1324 AU Uncertain 3_75679937_G->A 3 75679937 75679937 G A snp 446.77 0/1 99 250 220 30 0.12 ncRNA_exonic rs141031386 MIR1324 AU 0.4919 0.4944 Uncertain 3_75679938_T->C 3 75679938 75679938 T C snp 4372.77 0/1 99 249 82 167 0.67 ncRNA_exonic rs113972520 MIR1324 AU Uncertain 3_75679945_C->T 3 75679945 75679945 C T snp 1456.77 0/1 99 250 165 85 0.34 ncRNA_exonic rs201625997 MIR1324 AU Uncertain 3_75679958_C->T 3 75679958 75679958 C T snp 386.77 0/1 99 250 220 30 0.12 ncRNA_exonic rs111812984 MIR1324 AU 0.4545 0.4815 Uncertain 3_75679965_C->A 3 75679965 75679965 C A snp 2258.77 0/1 99 250 123 127 0.51 ncRNA_exonic rs112497234 MIR1324 AU 0 0 Uncertain 3_75679973_A->G 3 75679973 75679973 A G snp 549.77 0/1 99 250 218 32 0.13 ncRNA_exonic rs112915509 MIR1324 AU 0.4780 0.4875 Uncertain 3_75679975_C->T 3 75679975 75679975 C T snp 4144.77 0/1 99 250 94 156 0.62 ncRNA_exonic rs111606583 MIR1324 AU Uncertain 3_75679988_A->G 3 75679988 75679988 A G snp 3944.77 0/1 99 250 104 146 0.58 ncRNA_exonic rs200933343 MIR1324 AU Uncertain 3_75679990_G->A 3 75679990 75679990 G A snp 1016.77 0/1 99 250 193 57 0.23 ncRNA_exonic MIR1324 AU Uncertain 3_75679997_C->T 3 75679997 75679997 C T snp 2414.77 0/1 99 250 156 94 0.38 ncRNA_exonic rs202232971 MIR1324 AU 5.486e-05 0.0001 Uncertain 3_75680010_T->C 3 75680010 75680010 T C snp 389.77 0/1 99 250 214 36 0.14 downstream rs75174508 MIR1324 AU 0.4861 0.4932 Uncertain 3_75680011_G->T 3 75680011 75680011 G T snp 798.77 0/1 99 250 198 52 0.21 downstream rs201069681 MIR1324 AU 2.306e-05 0 Uncertain 3_75680035_G->C 3 75680035 75680035 G C snp 607.77 0/1 99 250 205 45 0.18 downstream MIR1324 AU Uncertain 3_75680037_G->T 3 75680037 75680037 G T snp 2462.77 0/1 99 249 146 103 0.41 downstream rs112556087 MIR1324 AU Uncertain 3_75680044_C->T 3 75680044 75680044 C T snp 489.77 0/1 99 246 202 44 0.18 downstream MIR1324 AU Uncertain 3_75680045_A->G 3 75680045 75680045 A G snp 3593.77 0/1 99 246 100 146 0.59 downstream rs112737384 MIR1324 AU Uncertain 3_75680067_A->G 3 75680067 75680067 A G snp 325.77 0/1 99 238 196 42 0.18 downstream rs201219779 MIR1324 AU Uncertain 3_75680073_G->A 3 75680073 75680073 G A snp 310.77 0/1 99 232 192 40 0.17 downstream rs202061161 MIR1324 AU Uncertain 3_75680098_G->A 3 75680098 75680098 G A snp 184.77 0/1 99 208 190 18 0.09 downstream MIR1324 AU Uncertain 3_75680109_-->ATTTTC 3 75680109 75680109 - ATTTTC indel 3567.73 0/1 99 125 83 42 0.34 downstream MIR1324 AU Uncertain 3_75680115_C->T 3 75680115 75680115 C T snp 235.77 0/1 99 157 131 26 0.17 downstream rs372431068 MIR1324 AU Uncertain 3_75680126_T->C 3 75680126 75680126 T C snp 1502.77 0/1 99 150 75 75 0.5 downstream rs112305599 MIR1324 AU Uncertain 3_75680133_G->C 3 75680133 75680133 G C snp 1311.77 0/1 99 133 45 88 0.66 downstream MIR1324 AU Uncertain 3_75680134_C->A 3 75680134 75680134 C A snp 1255.77 0/1 99 129 67 62 0.48 downstream MIR1324 AU Uncertain 3_75680136_A->G 3 75680136 75680136 A G snp 1645.77 0/1 99 123 40 83 0.67 downstream rs201471636 MIR1324 AU Uncertain 3_75680137_G->A 3 75680137 75680137 G A snp 67.77 0/1 96 123 103 20 0.16 downstream MIR1324 AU Uncertain 3_75680143_G->T 3 75680143 75680143 G T snp 347.77 0/1 99 114 96 18 0.16 downstream rs111613657 MIR1324 AU Uncertain 3_75680159_A->T 3 75680159 75680159 A T snp 195.77 0/1 99 68 57 11 0.16 downstream rs1829175 MIR1324 AU Uncertain 3_75680173_G->T 3 75680173 75680173 G T snp 436.77 0/1 99 40 22 18 0.45 downstream MIR1324 AU Uncertain 3_75680178_G->T 3 75680178 75680178 G T snp 384.77 0/1 99 32 12 20 0.63 downstream rs139530388 MIR1324 AU Uncertain 3_75680180_A->G 3 75680180 75680180 A G snp 112.77 0/1 99 23 12 11 0.48 downstream rs145568253 MIR1324 AU Uncertain 3_75680182_T->G 3 75680182 75680182 T G snp 150.77 0/1 99 22 9 13 0.59 downstream rs138717495 MIR1324 AU Uncertain 3_75713782_G->A 3 75713782 75713782 G A snp 32.77 0/1 61 5 3 2 0.4 intergenic rs62247154 MIR1324 AU Uncertain 3_75713858_A->G 3 75713858 75713858 A G snp 367.77 0/1 99 41 25 16 0.39 intergenic rs114250298 MIR1324 AU Uncertain 3_75714157_T->C 3 75714157 75714157 T C snp 131.77 0/1 99 17 11 6 0.35 intergenic rs374393526 MIR1324 AU Uncertain 3_75714185_C->T 3 75714185 75714185 C T snp 253.77 0/1 99 38 21 17 0.45 intergenic rs73840322 MIR1324 AU Uncertain 3_75714231_G->T 3 75714231 75714231 G T snp 687.77 0/1 99 157 115 42 0.27 intergenic rs200741914 MIR1324 AU Uncertain 3_75714242_G->T 3 75714242 75714242 G T snp 1124.77 0/1 99 200 147 53 0.27 intergenic rs76139301 MIR1324 AU Uncertain 3_75714251_T->C 3 75714251 75714251 T C snp 1328.77 0/1 99 242 177 65 0.27 intergenic rs201425516 MIR1324 AU Uncertain 3_75714263_C->T 3 75714263 75714263 C T snp 898.77 0/1 99 249 183 66 0.27 intergenic rs200010663 MIR1324 AU Uncertain 3_75714264_A->T 3 75714264 75714264 A T snp 936.77 0/1 99 249 182 67 0.27 intergenic rs201176988 MIR1324 AU Uncertain 3_75714298_A->G 3 75714298 75714298 A G snp 3836.77 0/1 99 250 99 151 0.6 intergenic rs74714110 MIR1324 AU 0.85 T 1 N -1.008 T 0.0 T 0.0 T Uncertain 3_75714311_G->A 3 75714311 75714311 G A snp 2089.77 0/1 99 250 168 82 0.33 intergenic rs79850029 MIR1324 AU Uncertain 3_75714337_T->G 3 75714337 75714337 T G snp 4355.77 0/1 99 249 87 162 0.65 intergenic rs73840323 MIR1324 AU 1 T 1 N -1.049 T 0.0 T 0.0 T Uncertain 3_75714345_G->T 3 75714345 75714345 G T snp 1769.77 0/1 99 250 175 75 0.3 intergenic rs73840324 MIR1324 AU 0.03 T 0.0 P -0.935 T 0.226 T 0.246 T Uncertain 3_75714379_T->G 3 75714379 75714379 T G snp 1646.77 0/1 99 249 174 75 0.3 intergenic rs6799371 MIR1324 AU Uncertain 3_75714382_G->C 3 75714382 75714382 G C snp 1698.77 0/1 99 249 172 77 0.31 intergenic rs73840325 MIR1324 AU Uncertain 3_75714391_G->T 3 75714391 75714391 G T snp 1501.77 0/1 99 238 172 66 0.28 intergenic rs140933497 MIR1324 AU Uncertain 3_75714394_G->T 3 75714394 75714394 G T snp 1523.77 0/1 99 234 169 65 0.28 intergenic rs146334122 MIR1324 AU Uncertain 3_75714396_-->TG 3 75714396 75714396 - TG indel 2924.73 0/1 99 231 158 73 0.32 intergenic MIR1324 AU Uncertain 3_75714422_G->A 3 75714422 75714422 G A snp 1787.77 0/1 99 210 139 71 0.34 intergenic rs148698658 MIR1324 AU Uncertain 3_75714423_G->T 3 75714423 75714423 G T snp 1699.77 0/1 99 209 140 69 0.33 intergenic rs79392746 MIR1324 AU Uncertain 3_75714447_C->T 3 75714447 75714447 C T snp 3600.77 0/1 99 182 61 121 0.66 intergenic rs183565652 MIR1324 AU Uncertain 3_75714459_G->A 3 75714459 75714459 G A snp 1512.77 0/1 99 172 114 58 0.34 intergenic rs145174281 MIR1324 AU Uncertain 3_75714465_G->T 3 75714465 75714465 G T snp 1494.77 0/1 99 165 111 54 0.33 intergenic rs74488348 MIR1324 AU Uncertain 3_75714468_A->G 3 75714468 75714468 A G snp 3352.77 0/1 99 161 53 108 0.67 intergenic rs79449223 MIR1324 AU Uncertain 3_75714486_A->C 3 75714486 75714486 A C snp 1199.77 0/1 99 123 82 41 0.33 intergenic rs76451681 MIR1324 AU Uncertain 3_75714517_T->C 3 75714517 75714517 T C snp 353.77 0/1 99 36 23 13 0.36 intergenic rs73840326 MIR1324 AU Uncertain 3_75714532_T->G 3 75714532 75714532 T G snp 200.77 0/1 99 15 5 10 0.67 intergenic rs114875347 MIR1324 AU Uncertain 3_75714541_C->T 3 75714541 75714541 C T snp 97.77 0/1 99 19 14 5 0.26 intergenic rs200140354 MIR1324 AU Uncertain 3_75714557_C->G 3 75714557 75714557 C G snp 698.77 0/1 99 43 16 27 0.63 intergenic rs201997697 MIR1324 AU Uncertain 3_75714561_A->T 3 75714561 75714561 A T snp 76.77 0/1 99 59 48 11 0.19 intergenic MIR1324 AU Uncertain 3_75714566_G->A 3 75714566 75714566 G A snp 418.77 0/1 99 64 44 20 0.31 intergenic rs75621525 MIR1324 AU Uncertain 3_75714580_G->A 3 75714580 75714580 G A snp 547.77 0/1 99 95 66 29 0.31 intergenic rs111699281 MIR1324 AU Uncertain 3_75714608_C->T 3 75714608 75714608 C T snp 801.77 0/1 99 183 137 46 0.25 intergenic rs79797113 MIR1324 AU Uncertain 3_75714648_T->G 3 75714648 75714648 T G snp 1195.77 0/1 99 250 186 64 0.26 intergenic rs75484772 MIR1324 AU Uncertain 3_75714663_A->C 3 75714663 75714663 A C snp 1659.77 0/1 99 250 167 83 0.33 intergenic rs77035831 MIR1324 AU Uncertain 3_75714674_G->A 3 75714674 75714674 G A snp 2299.77 0/1 99 250 161 89 0.36 intergenic rs62247156 MIR1324 AU 0 . Uncertain 3_75714702_A->G 3 75714702 75714702 A G snp 4265.77 0/1 99 250 92 158 0.63 intergenic rs62247157 MIR1324 AU 1 T 1 N -1.032 T 0.0 T 0.0 T Uncertain 3_75714709_G->T 3 75714709 75714709 G T snp 1084.77 0/1 99 250 182 68 0.27 intergenic rs148233498 MIR1324 AU Uncertain 3_75714771_A->G 3 75714771 75714771 A G snp 628.77 0/1 99 250 195 55 0.22 intergenic rs199597773 MIR1324 AU 0.31 T 1 N -0.931 T 0.99 D 0.943 D Uncertain 3_75714788_A->C 3 75714788 75714788 A C snp 681.77 0/1 99 250 193 57 0.23 intergenic rs115350381 MIR1324 AU 0.89 T 0.0 P -1.062 T 0.0 T 0.0 T Uncertain 3_75714806_G->- 3 75714806 75714806 G - indel 1844.73 0/1 99 239 169 70 0.29 intergenic rs144577984 MIR1324 AU Uncertain 3_75714807_G->A 3 75714807 75714807 G A snp 1691.77 0/1 99 248 181 67 0.27 intergenic rs62247158 MIR1324 AU 0 D 1 N -0.694 T 1.0 D 0.998 D Uncertain 3_75714809_C->T 3 75714809 75714809 C T snp 1288.77 0/1 99 248 177 71 0.29 intergenic rs77371781 MIR1324 AU 0.07 T 1 N -0.996 T 0.0 T 0.001 T Uncertain 3_75714819_G->A 3 75714819 75714819 G A snp 1096.77 0/1 99 250 188 62 0.25 intergenic rs74497996 MIR1324 AU 0.04 T 1 N -0.984 T 0.001 T 0.001 T Uncertain 3_75714831_G->A 3 75714831 75714831 G A snp 719.77 0/1 99 250 200 50 0.2 intergenic rs138192454 MIR1324 AU 0.21 T 1 N -1.028 T 0.001 T 0.001 T Uncertain 3_75714835_C->T 3 75714835 75714835 C T snp 769.77 0/1 99 250 197 53 0.21 intergenic rs150744016 MIR1324 AU Uncertain 3_75714840_A->G 3 75714840 75714840 A G snp 3369.77 0/1 99 250 127 123 0.49 intergenic rs200756071 MIR1324 AU 1 T 1 N -1.032 T 0.0 T 0.0 T Uncertain 3_75714843_T->A 3 75714843 75714843 T A snp 1394.77 0/1 99 250 186 64 0.26 intergenic rs201904817 MIR1324 AU 0.25 T 1 N -1.079 T 0.106 T 0.181 T Uncertain 3_75714853_G->A 3 75714853 75714853 G A snp 1559.77 0/1 99 250 183 67 0.27 intergenic rs199889568 MIR1324 AU Uncertain 3_75714898_G->A 3 75714898 75714898 G A snp 1740.77 0/1 99 229 154 75 0.33 intergenic rs62247159 MIR1324 AU 0 . Uncertain 3_75714917_G->A 3 75714917 75714917 G A snp 1117.77 0/1 99 208 158 50 0.24 intergenic rs75138472 MIR1324 AU 0.06 T 0.0 P -0.978 T 0.001 T 0.002 T Uncertain 3_75714929_G->A 3 75714929 75714929 G A snp 1020.77 0/1 99 197 150 47 0.24 intergenic rs148715408 MIR1324 AU 0.08 T 0.0 P -0.867 T 0.99 D 0.905 D Uncertain 3_75714950_C->A 3 75714950 75714950 C A snp 881.77 0/1 99 177 136 41 0.23 intergenic rs73840338 MIR1324 AU 0.02 T 0.0 P -0.585 T 0.997 D 0.986 D Uncertain 3_75714971_C->A 3 75714971 75714971 C A snp 612.77 0/1 99 151 122 29 0.19 intergenic rs13096122 MIR1324 AU 0.23 T 1 N -1.074 T 0.983 D 0.731 D Uncertain 3_75714976_C->T 3 75714976 75714976 C T snp 1418.77 0/1 99 146 97 49 0.34 intergenic rs62247960 MIR1324 AU 0 . Uncertain 3_75714980_C->A 3 75714980 75714980 C A snp 798.77 0/1 99 142 107 35 0.25 intergenic rs201898295 MIR1324 AU Uncertain 3_75779509_A->G 3 75779509 75779509 A G snp 431.77 1/1 33 11 0 11 1.0 UTR3 rs144534590 ZNF717 AU Uncertain 3_75779510_A->G 3 75779510 75779510 A G snp 433.77 1/1 33 11 0 11 1.0 UTR3 rs139577718 ZNF717 AU Uncertain 3_75779540_A->G 3 75779540 75779540 A G snp 1249.77 0/1 99 55 16 39 0.71 UTR3 rs77298160 ZNF717 AU Uncertain 3_75779552_A->G 3 75779552 75779552 A G snp 2051.77 0/1 99 77 12 65 0.84 UTR3 rs62248836 ZNF717 AU Uncertain 3_75779566_G->T 3 75779566 75779566 G T snp 80.77 0/1 99 115 104 11 0.1 UTR3 rs200439742 ZNF717 AU Uncertain 3_75779573_A->G 3 75779573 75779573 A G snp 117.77 0/1 99 137 124 13 0.09 UTR3 rs77499406 ZNF717 AU Uncertain 3_75779601_C->T 3 75779601 75779601 C T snp 3680.77 0/1 99 211 70 141 0.67 UTR3 rs141081469 ZNF717 AU Uncertain 3_75779602_T->G 3 75779602 75779602 T G snp 3696.77 0/1 99 212 72 140 0.66 UTR3 rs149829176 ZNF717 AU Uncertain 3_75779613_T->A 3 75779613 75779613 T A snp 749.77 0/1 99 250 205 45 0.18 UTR3 rs146842439 ZNF717 AU Uncertain 3_75779619_T->A 3 75779619 75779619 T A snp 121.77 0/1 99 250 227 23 0.09 UTR3 rs140625315 ZNF717 AU Uncertain 3_75779644_C->A 3 75779644 75779644 C A snp 64.77 0/1 93 250 230 20 0.08 UTR3 rs112949302 ZNF717 AU Uncertain 3_75779649_T->G 3 75779649 75779649 T G snp 4058.77 0/1 99 250 101 149 0.6 UTR3 rs75922170 ZNF717 AU Uncertain 3_75779650_G->C 3 75779650 75779650 G C snp 78.77 0/1 99 250 230 20 0.08 UTR3 rs200767888 ZNF717 AU Uncertain 3_75779709_C->T 3 75779709 75779709 C T snp 4111.77 0/1 99 250 81 169 0.68 UTR3 rs77079546 ZNF717 AU Uncertain 3_75779724_T->C 3 75779724 75779724 T C snp 4432.77 0/1 99 242 80 162 0.67 UTR3 rs76992487 ZNF717 AU Uncertain 3_75779727_A->G 3 75779727 75779727 A G snp 4518.77 0/1 99 243 80 163 0.67 UTR3 rs76286498 ZNF717 AU Uncertain 3_75779742_G->A 3 75779742 75779742 G A snp 3247.77 0/1 99 246 115 131 0.53 UTR3 rs73841586 ZNF717 AU Uncertain 3_75779762_G->T 3 75779762 75779762 G T snp 3120.77 0/1 99 231 105 126 0.55 UTR3 rs73841587 ZNF717 AU Uncertain 3_75779769_C->G 3 75779769 75779769 C G snp 4008.77 0/1 99 225 72 153 0.68 exonic rs72503549 ZNF717 AU nonsynonymous SNV NM_001290210 exon6 c.G340C p.V114L 0.6 T 1 N -0.926 T Pathogenic 3_75779772_G->A 3 75779772 75779772 G A snp 31.77 0/1 60 223 207 16 0.07 splicing ZNF717 AU NM_001290210 exon1 c.6+3G>A Pathogenic 3_75779778_A->- 3 75779778 75779778 A - indel 4325.73 0/1 99 221 73 148 0.67 intronic rs147133731 ZNF717 AU NM_001290210 exon1 c.6+9delA Uncertain 3_75779851_G->A 3 75779851 75779851 G A snp 58.77 0/1 87 65 58 7 0.11 intronic ZNF717 AU NM_001290210 exon1 c.6+82G>A Uncertain 3_75779857_C->A 3 75779857 75779857 C A snp 1209.77 0/1 99 52 16 36 0.69 intronic rs138115158 ZNF717 AU NM_001290210 exon1 c.6+88C>A Uncertain 3_75779884_A->T 3 75779884 75779884 A T snp 450.77 0/1 99 19 6 13 0.68 intronic rs138094223 ZNF717 AU NM_001290210 exon1 c.6+115A>T Uncertain 3_75779885_T->C 3 75779885 75779885 T C snp 424.77 0/1 99 17 5 12 0.71 intronic rs143565977 ZNF717 AU NM_001290210 exon1 c.6+116T>C Uncertain 3_75779886_A->C 3 75779886 75779886 A C snp 247.77 0/1 99 17 9 8 0.47 intronic rs147168427 ZNF717 AU NM_001290210 exon1 c.6+117A>C Uncertain 3_75779901_C->G 3 75779901 75779901 C G snp 352.77 0/1 88 14 3 11 0.79 intronic rs79253256 ZNF717 AU NM_001290210 exon1 c.6+132C>G Uncertain 3_75779909_G->A 3 75779909 75779909 G A snp 186.77 0/1 99 12 6 6 0.5 intronic rs73115001 ZNF717 AU NM_001290210 exon1 c.6+140G>A Uncertain 3_75779918_A->G 3 75779918 75779918 A G snp 274.77 0/1 85 11 3 8 0.73 intronic rs72503551 ZNF717 AU NM_001290210 exon1 c.6+149A>G Uncertain 3_75781031_G->A 3 75781031 75781031 G A snp 264.77 0/1 99 14 6 8 0.57 intronic rs62250080 ZNF717 AU NM_001290210 exon2 c.1447-179G>A Uncertain 3_75781049_G->T 3 75781049 75781049 G T snp 280.77 0/1 99 25 16 9 0.36 intronic rs77738888 ZNF717 AU NM_001290210 exon2 c.1447-161G>T Uncertain 3_75781073_C->T 3 75781073 75781073 C T snp 402.77 0/1 99 58 41 17 0.29 intronic rs145426707 ZNF717 AU NM_001290210 exon2 c.1447-137C>T 0.654353 0.8204 Uncertain 3_75781111_T->A 3 75781111 75781111 T A snp 186.77 0/1 99 134 117 17 0.13 intronic rs41466244 ZNF717 AU NM_001290210 exon2 c.1447-99T>A Uncertain 3_75781138_-->T 3 75781138 75781138 - T indel 2553.73 0/1 99 206 130 76 0.37 intronic rs148038933 ZNF717 AU NM_001290210 exon2 c.1447-72insT Uncertain 3_75781145_C->G 3 75781145 75781145 C G snp 2062.77 0/1 99 220 136 84 0.38 intronic rs74413854 ZNF717 AU NM_001290210 exon2 c.1447-65C>G Uncertain 3_75781149_T->A 3 75781149 75781149 T A snp 240.77 0/1 99 227 198 29 0.13 intronic rs78304757 ZNF717 AU NM_001290210 exon2 c.1447-61T>A Uncertain 3_75781165_A->G 3 75781165 75781165 A G snp 3872.77 0/1 99 250 97 153 0.61 intronic rs62250082 ZNF717 AU NM_001290210 exon2 c.1447-45A>G 0.4306 0.5 Uncertain 3_75781173_G->T 3 75781173 75781173 G T snp 3480.77 0/1 99 250 117 133 0.53 intronic rs62250083 ZNF717 AU NM_001290210 exon2 c.1447-37G>T Uncertain 3_75781180_T->G 3 75781180 75781180 T G snp 205.77 0/1 99 250 226 24 0.1 intronic rs74880772 ZNF717 AU NM_001290210 exon2 c.1447-30T>G Uncertain 3_75781186_G->A 3 75781186 75781186 G A snp 2937.77 0/1 99 250 137 113 0.45 intronic rs75946221 ZNF717 AU NM_001290210 exon2 c.1447-24G>A Uncertain 3_75781200_G->T 3 75781200 75781200 G T snp 174.77 0/1 99 250 225 25 0.1 intronic rs148895985 ZNF717 AU NM_001290210 exon2 c.1447-10G>T 0.3786 . Uncertain 3_75781222_C->T 3 75781222 75781222 C T snp 4630.77 0/1 99 250 82 168 0.67 exonic rs62250084 ZNF717 AU nonsynonymous SNV NM_001290210 exon5 c.G328A p.E110K 0.3824 . 0.77 T 0.0 P -0.939 T Pathogenic 3_75781257_T->G 3 75781257 75781257 T G snp 3640.77 0/1 99 249 72 177 0.71 exonic rs62250086 ZNF717 AU nonsynonymous SNV NM_001290210 exon5 c.A293C p.Q98P 0.05 T 1 N -0.957 T Pathogenic 3_75781263_T->C 3 75781263 75781263 T C snp 4687.77 0/1 99 249 74 175 0.7 exonic rs62250087 ZNF717 AU nonsynonymous SNV NM_001290210 exon5 c.A287G p.K96R 0.3333 . 0.18 T 0.0 P -0.945 T Pathogenic 3_75781272_C->A 3 75781272 75781272 C A snp 3436.77 0/1 99 240 101 139 0.58 exonic rs79724453 ZNF717 AU nonsynonymous SNV NM_001290210 exon5 c.G278T p.G93V 0.47 T 1 N -0.903 T Pathogenic 3_75781299_C->A 3 75781299 75781299 C A snp 63.77 0/1 92 232 212 20 0.09 intronic rs144673606 ZNF717 AU NM_001290210 exon2 c.1509+27C>A Uncertain 3_75781306_T->C 3 75781306 75781306 T C snp 2187.77 0/1 99 224 131 93 0.42 intronic rs370083579 ZNF717 AU NM_001290210 exon2 c.1509+34T>C Uncertain 3_75781318_A->C 3 75781318 75781318 A C snp 3650.77 0/1 99 189 53 136 0.72 intronic rs75884445 ZNF717 AU NM_001290210 exon2 c.1509+46A>C Uncertain 3_75781334_G->A 3 75781334 75781334 G A snp 2435.77 0/1 99 158 63 95 0.6 intronic rs76975127 ZNF717 AU NM_001290210 exon2 c.1509+62G>A Uncertain 3_75781338_A->G 3 75781338 75781338 A G snp 2958.77 0/1 99 150 43 107 0.71 intronic rs76701264 ZNF717 AU NM_001290210 exon2 c.1509+66A>G Uncertain 3_75781372_C->T 3 75781372 75781372 C T snp 1307.77 0/1 99 67 23 44 0.66 intronic rs78984040 ZNF717 AU NM_001290210 exon2 c.1509+100C>T Uncertain 3_75781386_C->T 3 75781386 75781386 C T snp 880.77 0/1 99 42 12 30 0.71 intronic rs62250089 ZNF717 AU NM_001290210 exon2 c.1509+114C>T Uncertain 3_75781404_G->T 3 75781404 75781404 G T snp 373.77 0/1 99 25 12 13 0.52 intronic rs73841590 ZNF717 AU NM_001290210 exon2 c.1509+132G>T Uncertain 3_75781413_G->A 3 75781413 75781413 G A snp 50.77 0/1 79 17 14 3 0.18 intronic rs62250090 ZNF717 AU NM_001290210 exon2 c.1509+141G>A Uncertain 3_75781416_A->G 3 75781416 75781416 A G snp 264.77 0/1 99 17 8 9 0.53 intronic rs73841591 ZNF717 AU NM_001290210 exon2 c.1509+144A>G Uncertain 3_75781418_T->A 3 75781418 75781418 T A snp 374.77 0/1 99 17 5 12 0.71 intronic rs62250091 ZNF717 AU NM_001290210 exon2 c.1509+146T>A Uncertain 3_75785852_A->G 3 75785852 75785852 A G snp 43.77 0/1 72 4 2 2 0.5 intronic rs62250104 ZNF717 AU NM_001290210 exon3 c.10663-4574A>G Uncertain 3_75785878_C->G 3 75785878 75785878 C G snp 258.77 0/1 99 13 5 8 0.62 intronic rs78071258 ZNF717 AU NM_001290210 exon3 c.10663-4548C>G Uncertain 3_75785895_G->C 3 75785895 75785895 G C snp 490.77 0/1 99 21 6 15 0.71 intronic rs75734709 ZNF717 AU NM_001290210 exon3 c.10663-4531G>C Uncertain 3_75785912_G->T 3 75785912 75785912 G T snp 99.77 0/1 99 34 28 6 0.18 intronic rs79060363 ZNF717 AU NM_001290210 exon3 c.10663-4514G>T Uncertain 3_75785917_A->T 3 75785917 75785917 A T snp 316.77 0/1 99 38 24 14 0.37 intronic rs141958574 ZNF717 AU NM_001290210 exon3 c.10663-4509A>T Uncertain 3_75785918_G->A 3 75785918 75785918 G A snp 316.77 0/1 99 39 24 15 0.38 intronic rs150658686 ZNF717 AU NM_001290210 exon3 c.10663-4508G>A Uncertain 3_75785936_C->T 3 75785936 75785936 C T snp 526.77 0/1 99 63 38 25 0.4 intronic rs9881328 ZNF717 AU NM_001290210 exon3 c.10663-4490C>T Uncertain 3_75785942_G->A 3 75785942 75785942 G A snp 238.77 0/1 99 70 59 11 0.16 intronic rs75396377 ZNF717 AU NM_001290210 exon3 c.10663-4484G>A Uncertain 3_75785954_C->A 3 75785954 75785954 C A snp 247.77 0/1 99 84 70 14 0.17 intronic rs111680518 ZNF717 AU NM_001290210 exon3 c.10663-4472C>A Uncertain 3_75785959_G->T 3 75785959 75785959 G T snp 217.77 0/1 99 90 77 13 0.14 intronic rs76479490 ZNF717 AU NM_001290210 exon3 c.10663-4467G>T Uncertain 3_75785962_T->G 3 75785962 75785962 T G snp 195.77 0/1 99 95 81 14 0.15 intronic rs150241358 ZNF717 AU NM_001290210 exon3 c.10663-4464T>G Uncertain 3_75785970_C->A 3 75785970 75785970 C A snp 171.77 0/1 99 107 90 17 0.16 intronic rs145324281 ZNF717 AU NM_001290210 exon3 c.10663-4456C>A Uncertain 3_75785996_G->A 3 75785996 75785996 G A snp 2142.77 0/1 99 138 46 92 0.67 intronic rs78553275 ZNF717 AU NM_001290210 exon3 c.10663-4430G>A 0 . Uncertain 3_75785999_A->G 3 75785999 75785999 A G snp 1038.77 0/1 99 137 81 56 0.41 intronic rs79959645 ZNF717 AU NM_001290210 exon3 c.10663-4427A>G Uncertain 3_75786007_C->T 3 75786007 75786007 C T snp 1082.77 0/1 99 142 87 55 0.39 intronic rs199857928 ZNF717 AU NM_001290210 exon3 c.10663-4419C>T Uncertain 3_75786008_A->G 3 75786008 75786008 A G snp 1093.77 0/1 99 144 89 55 0.38 intronic rs201202549 ZNF717 AU NM_001290210 exon3 c.10663-4418A>G Uncertain 3_75786013_G->C 3 75786013 75786013 G C snp 240.77 0/1 99 153 133 20 0.13 intronic rs78668294 ZNF717 AU NM_001290210 exon3 c.10663-4413G>C 0 . Uncertain 3_75786019_G->C 3 75786019 75786019 G C snp 240.77 0/1 99 156 135 21 0.13 intronic rs76880869 ZNF717 AU NM_001290210 exon3 c.10663-4407G>C Uncertain 3_75786020_G->A 3 75786020 75786020 G A snp 216.77 0/1 99 156 133 23 0.15 intronic rs151189863 ZNF717 AU NM_001290210 exon3 c.10663-4406G>A Uncertain 3_75786031_A->C 3 75786031 75786031 A C snp 254.77 0/1 99 159 140 19 0.12 exonic rs200852928 ZNF717 AU stoploss NM_001128223 exon5 c.T2743G p.X915G 0.2 . 0.0 P Uncertain 3_75786036_A->C 3 75786036 75786036 A C snp 256.77 0/1 99 160 139 21 0.13 exonic rs113748085 ZNF717 AU nonsynonymous SNV NM_001128223 exon5 c.T2738G p.F913C 0.2 . 0 D 0.0 P -0.978 T 0.991 D 0.425 D Pathogenic 3_75786059_C->T 3 75786059 75786059 C T snp 2515.77 0/1 99 168 75 93 0.55 exonic rs73843008 ZNF717 AU synonymous SNV NM_001128223 exon5 c.G2715A p.V905V Uncertain 3_75786060_A->G 3 75786060 75786060 A G snp 354.77 0/1 99 170 146 24 0.14 exonic rs137915102 ZNF717 AU nonsynonymous SNV NM_001128223 exon5 c.T2714C p.V905A 1 T 1 N -0.940 T 0.106 T 0.009 T Pathogenic 3_75786071_C->A 3 75786071 75786071 C A snp 1815.77 0/1 99 190 104 86 0.45 exonic rs111230396 ZNF717 AU nonsynonymous SNV NM_001128223 exon5 c.G2703T p.E901D 0.17 T 1 N -0.948 T 0.111 T 0.006 T Pathogenic 3_75786073_C->G 3 75786073 75786073 C G snp 181.77 0/1 99 192 174 18 0.09 exonic rs140806462 ZNF717 AU nonsynonymous SNV NM_001128223 exon5 c.G2701C p.E901Q 0.1667 . 0.34 T 0.0 P -0.960 T 0.757 T 0.026 P Pathogenic 3_75786079_C->T 3 75786079 75786079 C T snp 2234.77 0/1 99 192 109 83 0.43 exonic rs202061186 ZNF717 AU nonsynonymous SNV NM_001128223 exon5 c.G2695A p.V899I 0 D 1 N -0.947 T 0.219 T 0.007 T Pathogenic 3_75786080_G->A 3 75786080 75786080 G A snp 3190.85 0/1 99 193 55 138 0.72 exonic rs144586950 ZNF717 AU synonymous SNV NM_001128223 exon5 c.C2694T p.D898D Uncertain 3_75786132_T->C 3 75786132 75786132 T C snp 2372.77 0/1 99 248 147 101 0.41 exonic rs75085872 ZNF717 AU nonsynonymous SNV NM_001128223 exon5 c.A2642G p.Q881R 0.51 T 1 N -0.923 T 0.02 T 0.004 T Pathogenic 3_75786163_C->T 3 75786163 75786163 C T snp 3870.77 0/1 99 250 112 138 0.55 exonic rs112669644 ZNF717 AU nonsynonymous SNV NM_001128223 exon5 c.G2611A p.E871K 0.74 T 1 N -0.957 T 0.049 T 0.048 T Pathogenic 3_75786175_C->A 3 75786175 75786175 C A snp 235.77 0/1 99 250 224 26 0.1 exonic rs144353922 ZNF717 AU stopgain NM_001128223 exon5 c.G2599T p.E867X 0.0179 0 0.04 T 1.000 P Pathogenic 3_75786202_T->C 3 75786202 75786202 T C snp 52.77 0/1 81 249 230 19 0.08 exonic rs148347794 ZNF717 AU nonsynonymous SNV NM_001128223 exon5 c.A2572G p.S858G 0.0072 0 0.28 T 0.0 P -1.023 T 0.024 T 0.036 T Pathogenic 3_75786203_G->A 3 75786203 75786203 G A snp 181.77 0/1 99 250 230 20 0.08 exonic rs143166925 ZNF717 AU synonymous SNV NM_001128223 exon5 c.C2571T p.L857L 0.0070 0 Uncertain 3_75786211_A->G 3 75786211 75786211 A G snp 4090.77 0/1 99 250 114 136 0.54 exonic rs77715040 ZNF717 AU nonsynonymous SNV NM_001128223 exon5 c.T2563C p.S855P 0 D 1 N -1.043 T 0.178 T 0.056 T Pathogenic 3_75786221_G->A 3 75786221 75786221 G A snp 315.77 0/1 99 250 223 27 0.11 exonic rs139945686 ZNF717 AU synonymous SNV NM_001128223 exon5 c.C2553T p.F851F 0.0015 0 Uncertain 3_75786225_G->A 3 75786225 75786225 G A snp 242.77 0/1 99 250 223 27 0.11 exonic rs76757483 ZNF717 AU nonsynonymous SNV NM_001128223 exon5 c.C2549T p.T850I 0 D 1 N -0.968 T 0.445 T 0.235 T Pathogenic 3_75786230_C->T 3 75786230 75786230 C T snp 530.77 0/1 99 250 215 35 0.14 exonic rs149559986 ZNF717 AU synonymous SNV NM_001128223 exon5 c.G2544A p.R848R 0.6849 0.7391 Uncertain 3_75786243_C->T 3 75786243 75786243 C T snp 3507.77 0/1 99 250 134 116 0.46 exonic rs139633377 ZNF717 AU nonsynonymous SNV NM_001128223 exon5 c.G2531A p.C844Y 0.01 T 1.000 N -0.050 T 1.0 D 1.0 D Pathogenic 3_75786245_T->A 3 75786245 75786245 T A snp 3316.77 0/1 99 250 133 117 0.47 exonic rs149660902 ZNF717 AU nonsynonymous SNV NM_001128223 exon5 c.A2529T p.R843S 0.17 T 1 N -0.966 T 0.0 T 0.003 T Pathogenic 3_75786251_G->A 3 75786251 75786251 G A snp 213.77 0/1 99 250 225 25 0.1 exonic rs139644424 ZNF717 AU synonymous SNV NM_001128223 exon5 c.C2523T p.P841P 0.0036 0 Uncertain 3_75786252_G->T 3 75786252 75786252 G T snp 3642.77 0/1 99 250 128 122 0.49 exonic rs140641854 ZNF717 AU nonsynonymous SNV NM_001128223 exon5 c.C2522A p.P841H 0.0029 0 0 D 0.997 N -1.067 T 1.0 D 0.981 D Pathogenic 3_75786256_T->A 3 75786256 75786256 T A snp 3491.77 0/1 99 250 133 117 0.47 exonic rs113251431 ZNF717 AU stopgain NM_001128223 exon5 c.A2518T p.K840X 1 T 1 D Pathogenic 3_75786261_C->T 3 75786261 75786261 C T snp 338.77 0/1 99 250 222 28 0.11 exonic rs78738705 ZNF717 AU nonsynonymous SNV NM_001128223 exon5 c.G2513A p.G838E 0.02 T 0.902 N -1.046 T 0.984 D 0.842 D Pathogenic 3_75786264_G->T 3 75786264 75786264 G T snp 206.77 0/1 99 250 226 24 0.1 exonic ZNF717 AU nonsynonymous SNV NM_001128223 exon5 c.C2510A p.T837K 0 D 0.998 N -1.047 T 0.972 D 0.749 D Pathogenic 3_75786278_A->C 3 75786278 75786278 A C snp 4676.77 0/1 99 250 94 156 0.62 exonic rs79811623 ZNF717 AU nonsynonymous SNV NM_001128223 exon5 c.T2496G p.H832Q 0 D 1.000 N 0.069 D 0.738 T 0.672 P Pathogenic 3_75786288_A->G 3 75786288 75786288 A G snp 313.77 0/1 99 250 221 29 0.12 exonic rs76707683 ZNF717 AU nonsynonymous SNV NM_001128223 exon5 c.T2486C p.L829P 0 D 1.000 N -0.929 T 1.0 D 1.0 D Pathogenic 3_75786298_T->C 3 75786298 75786298 T C snp 246.77 0/1 99 249 222 27 0.11 exonic rs76137150 ZNF717 AU nonsynonymous SNV NM_001128223 exon5 c.A2476G p.K826E 0.3 T 1 N -1.035 T 0.875 T 0.402 P Pathogenic 3_75786302_G->A 3 75786302 75786302 G A snp 2763.77 0/1 99 249 147 102 0.41 exonic rs80001478 ZNF717 AU synonymous SNV NM_001128223 exon5 c.C2472T p.S824S Uncertain 3_75786315_CTACATTCT->- 3 75786315 75786323 CTACATTCT - indel 16494.7 0/1 99 245 100 145 0.59 exonic rs146447046 ZNF717 AU nonframeshift deletion NM_001128223 exon5 c.2451_2459del p.817_820del ID=COSM1425319;OCCURENCE=43(large_intestine) Likely pathogenic 3_75786337_G->A 3 75786337 75786337 G A snp 174.77 0/1 99 242 215 27 0.11 exonic rs78596620 ZNF717 AU nonsynonymous SNV NM_001128223 exon5 c.C2437T p.P813S 0.05 T 1.000 N -1.031 T 1.0 D 0.989 D Pathogenic 3_75786352_G->A 3 75786352 75786352 G A snp 1221.77 0/1 99 250 193 57 0.23 exonic rs140870505 ZNF717 AU nonsynonymous SNV NM_001128223 exon5 c.C2422T p.H808Y 0 D 0.859 N -0.311 T 1.0 D 0.998 D Pathogenic 3_75786354_G->A 3 75786354 75786354 G A snp 196.77 0/1 99 250 226 24 0.1 exonic rs77045598 ZNF717 AU nonsynonymous SNV NM_001128223 exon5 c.C2420T p.T807I 1 T 0.998 N -0.959 T 0.008 T 0.027 T Pathogenic 3_75786355_T->A 3 75786355 75786355 T A snp 411.77 0/1 99 250 216 34 0.14 exonic rs80256387 ZNF717 AU nonsynonymous SNV NM_001128223 exon5 c.A2419T p.T807S 0.0003 0 0.05 T 0.001 P -1.057 T 0.011 T 0.04 T Pathogenic 3_75786379_T->C 3 75786379 75786379 T C snp 3860.77 0/1 99 247 111 136 0.55 exonic rs80170761 ZNF717 AU nonsynonymous SNV NM_001128223 exon5 c.A2395G p.T799A 0.14 T 1 N -0.978 T 0.041 T 0.015 T Pathogenic 3_75786381_T->C 3 75786381 75786381 T C snp 1616.77 0/1 99 245 170 75 0.31 exonic rs141124538 ZNF717 AU nonsynonymous SNV NM_001128223 exon5 c.A2393G p.K798R 0 0 0.53 T 0.0 P -1.022 T 0.596 P 0.168 P Pathogenic 3_75786385_C->G 3 75786385 75786385 C G snp 4942.77 0/1 99 249 77 172 0.69 exonic rs74494321 ZNF717 AU nonsynonymous SNV NM_001128223 exon5 c.G2389C p.D797H 0 0 0.62 T 0.0 P -0.938 T 0.0 T 0.0 T Pathogenic 3_75786387_T->C 3 75786387 75786387 T C snp 263.77 0/1 99 250 220 30 0.12 exonic rs200576309 ZNF717 AU nonsynonymous SNV NM_001128223 exon5 c.A2387G p.Y796C 0 0 0.19 T 0.0 P -1.031 T 0.991 D 0.907 D Pathogenic 3_75786403_A->T 3 75786403 75786403 A T snp 335.77 0/1 99 250 215 35 0.14 exonic rs150272782 ZNF717 AU nonsynonymous SNV NM_001128223 exon5 c.T2371A p.C791S 0 0 0.01 T 0.205 P 0.608 D 1.0 D 0.997 D Pathogenic 3_75786415_C->T 3 75786415 75786415 C T snp 475.77 0/1 99 250 213 37 0.15 exonic rs138918411 ZNF717 AU nonsynonymous SNV NM_001128223 exon5 c.G2359A p.E787K 0 0 0.89 T 0.000 P -0.989 T 0.261 T 0.071 T Pathogenic 3_75786417_T->C 3 75786417 75786417 T C snp 3407.77 0/1 99 250 132 118 0.47 exonic rs77452946 ZNF717 AU nonsynonymous SNV NM_001128223 exon5 c.A2357G p.Y786C 0.02 T 0.998 N -1.034 T 1.0 D 0.994 D Pathogenic 3_75786438_G->A 3 75786438 75786438 G A snp 2981.77 0/1 99 248 140 108 0.44 exonic rs148249548 ZNF717 AU nonsynonymous SNV NM_001128223 exon5 c.C2336T p.T779I 1 T 1.000 N -0.983 T 0.232 T 0.058 T Pathogenic 3_75786440_C->T 3 75786440 75786440 C T snp 5383.77 0/1 99 248 58 190 0.77 exonic rs145944373 ZNF717 AU synonymous SNV NM_001128223 exon5 c.G2334A p.G778G 0.622204 0.8204 0.6483 0.7386 Uncertain 3_75786449_C->T 3 75786449 75786449 C T snp 446.77 0/1 99 250 217 33 0.13 exonic rs76384928 ZNF717 AU synonymous SNV NM_001128223 exon5 c.G2325A p.T775T 0.0062 0.0044 Uncertain 3_75786450_G->A 3 75786450 75786450 G A snp 2971.77 0/1 99 249 139 110 0.44 exonic rs77097895 ZNF717 AU nonsynonymous SNV NM_001128223 exon5 c.C2324T p.T775M 0 0 0.14 T 1 N -1.023 T 0.004 T 0.005 T Pathogenic 3_75786453_C->T 3 75786453 75786453 C T snp 3967.77 0/1 99 249 106 143 0.57 exonic rs77961859 ZNF717 AU nonsynonymous SNV NM_001128223 exon5 c.G2321A p.S774N 0.0064 0.0049 0.59 T 0.0 P -0.979 T 0.0 T 0.0 T Pathogenic 3_75786469_G->A 3 75786469 75786469 G A snp 2052.77 0/1 99 250 162 88 0.35 exonic rs113197025 ZNF717 AU nonsynonymous SNV NM_001128223 exon5 c.C2305T p.H769Y 1 T 1 N -1.016 T 0.566 P 0.022 P Pathogenic 3_75786476_G->A 3 75786476 75786476 G A snp 1948.77 0/1 99 250 163 87 0.35 exonic rs111381670 ZNF717 AU synonymous SNV NM_001128223 exon5 c.C2298T p.T766T Uncertain 3_75786490_C->G 3 75786490 75786490 C G snp 2044.77 0/1 99 250 165 85 0.34 exonic rs113382015 ZNF717 AU nonsynonymous SNV NM_001128223 exon5 c.G2284C p.E762Q 0.28 T 1 N -1.014 T 0.975 D 0.654 D Pathogenic 3_75786499_C->T 3 75786499 75786499 C T snp 454.77 0/1 99 249 214 35 0.14 exonic rs143901824 ZNF717 AU nonsynonymous SNV NM_001128223 exon5 c.G2275A p.E759K 0.0300 0.0079 0.74 T 0.0 P -0.959 T 0.062 T 0.032 T Pathogenic 3_75786500_A->G 3 75786500 75786500 A G snp 3750.77 0/1 99 249 101 148 0.59 exonic rs74184035 ZNF717 AU synonymous SNV NM_001128223 exon5 c.T2274C p.Y758Y 0.0303 0.0079 Uncertain 3_75786501_T->A 3 75786501 75786501 T A snp 1824.77 0/1 99 250 167 83 0.33 exonic rs372539402 ZNF717 AU nonsynonymous SNV NM_001128223 exon5 c.A2273T p.Y758F 0.32 T 1 N -0.992 T 0.003 T 0.006 T Pathogenic 3_75786506_T->C 3 75786506 75786506 T C snp 337.77 0/1 99 249 221 28 0.11 exonic rs79902440 ZNF717 AU synonymous SNV NM_001128223 exon5 c.A2268G p.K756K Uncertain 3_75786515_G->A 3 75786515 75786515 G A snp 3672.77 0/1 99 250 101 149 0.6 exonic rs74637771 ZNF717 AU synonymous SNV NM_001128223 exon5 c.C2259T p.T753T 0.0374 0.0159 Uncertain 3_75786516_G->T 3 75786516 75786516 G T snp 380.77 0/1 99 250 215 35 0.14 exonic rs141393015 ZNF717 AU nonsynonymous SNV NM_001128223 exon5 c.C2258A p.T753N 0.0360 0.0156 0 D 0.018 P -0.882 T 0.991 D 0.95 D Pathogenic 3_75786518_A->C 3 75786518 75786518 A C snp 1878.77 0/1 99 248 162 86 0.35 exonic rs113078821 ZNF717 AU nonsynonymous SNV NM_001128223 exon5 c.T2256G p.H752Q 0 D 0.985 N -0.635 T 0.997 D 0.99 D Pathogenic 3_75786521_G->A 3 75786521 75786521 G A snp 1880.77 0/1 99 245 158 87 0.36 exonic rs76396775 ZNF717 AU synonymous SNV NM_001128223 exon5 c.C2253T p.T751T Uncertain 3_75786533_T->G 3 75786533 75786533 T G snp 314.77 0/1 99 247 221 26 0.11 exonic rs79051543 ZNF717 AU synonymous SNV NM_001128223 exon5 c.A2241C p.V747V Uncertain 3_75786555_-->TG 3 75786555 75786555 - TG indel 7704.73 0/1 99 248 89 159 0.64 exonic rs141276988 ZNF717 AU frameshift insertion NM_001128223 exon5 c.2218_2219insCA p.C740fs 0.0959 0.0577 Pathogenic 3_75786572_T->C 3 75786572 75786572 T C snp 987.77 0/1 99 230 179 51 0.22 exonic rs78845529 ZNF717 AU synonymous SNV NM_001128223 exon5 c.A2202G p.A734A 0.0826 0.0569 Uncertain 3_75786586_G->T 3 75786586 75786586 G T snp 192.77 0/1 99 212 188 24 0.11 exonic rs201102396 ZNF717 AU nonsynonymous SNV NM_001128223 exon5 c.C2188A p.P730T 0.0703 0.0662 0.03 T 0.009 P -1.090 T 0.0 T 0.001 T Pathogenic 3_75786593_C->A 3 75786593 75786593 C A snp 92.77 0/1 99 214 191 23 0.11 exonic rs760185034 ZNF717 AU synonymous SNV NM_001128223 exon5 c.G2181T p.G727G 0.0677 0.0714 Uncertain 3_75786597_C->T 3 75786597 75786597 C T snp 270.77 0/1 99 205 181 24 0.12 exonic rs113865679 ZNF717 AU nonsynonymous SNV NM_001128223 exon5 c.G2177A p.R726Q 0 D 1.000 N -0.936 T 0.0 T 0.0 T Pathogenic 3_75786598_G->A 3 75786598 75786598 G A snp 136.77 0/1 99 204 184 20 0.1 exonic rs199898382 ZNF717 AU nonsynonymous SNV NM_001128223 exon5 c.C2176T p.R726W 0.0672 0.0738 0.01 T 0.087 P -1.030 T 0.0 T 0.0 T Pathogenic 3_75786607_C->T 3 75786607 75786607 C T snp 223.77 0/1 99 189 170 19 0.1 exonic rs113494751 ZNF717 AU nonsynonymous SNV NM_001128223 exon5 c.G2167A p.V723I 0.08 T 1.000 N -0.932 T 0.826 T 0.125 P Pathogenic 3_75786608_C->T 3 75786608 75786608 C T snp 51.77 0/1 80 190 174 16 0.08 exonic rs752881152 ZNF717 AU synonymous SNV NM_001128223 exon5 c.G2166A p.K722K 0.0746 0.0850 Uncertain 3_75786610_T->G 3 75786610 75786610 T G snp 103.77 0/1 99 190 174 16 0.08 exonic rs112828508 ZNF717 AU nonsynonymous SNV NM_001128223 exon5 c.A2164C p.K722Q 1 T 1.000 N -1.090 T 0.91 T 0.477 D Pathogenic 3_75786618_C->A 3 75786618 75786618 C A snp 116.77 0/1 99 192 174 18 0.09 exonic rs140085908 ZNF717 AU nonsynonymous SNV NM_001128223 exon5 c.G2156T p.R719I 0.81 T 1 N -0.929 T 0.052 T 0.017 T Pathogenic 3_75786619_T->C 3 75786619 75786619 T C snp 142.77 0/1 99 194 177 17 0.09 exonic rs111548839 ZNF717 AU nonsynonymous SNV NM_001128223 exon5 c.A2155G p.R719G 0.29 T 1 N -0.955 T 0.0 T 0.001 T Pathogenic 3_75786623_G->T 3 75786623 75786623 G T snp 2018.77 0/1 99 196 116 80 0.41 exonic rs112829115 ZNF717 AU synonymous SNV NM_001128223 exon5 c.C2151A p.I717I Uncertain 3_75786628_G->C 3 75786628 75786628 G C snp 656.77 0/1 99 202 159 43 0.21 exonic rs3009023 ZNF717 AU nonsynonymous SNV NM_001128223 exon5 c.C2146G p.Q716E 0.000599042 6.371e-05 0 0.04 T 1 N -1.016 T 0.207 T 0.101 T Pathogenic 3_75786662_A->T 3 75786662 75786662 A T snp 87.77 0/1 99 245 227 18 0.07 exonic rs202184453 ZNF717 AU nonsynonymous SNV NM_001128223 exon5 c.T2112A p.N704K 0.3537 0.34 1 T 0.005 P -1.079 T 0.743 T 0.264 P Pathogenic 3_75786670_G->A 3 75786670 75786670 G A snp 3204.83 0/1 99 250 117 133 0.53 exonic rs112822201 ZNF717 AU nonsynonymous SNV NM_001128223 exon5 c.C2104T p.P702S 0.06 T 0.998 N -0.962 T 0.588 P 0.118 P Pathogenic 3_75786681_G->A 3 75786681 75786681 G A snp 4666.77 0/1 99 250 71 179 0.72 exonic rs111677009 ZNF717 AU nonsynonymous SNV NM_001128223 exon5 c.C2093T p.P698L 0.4014 0.4083 0 D 0.312 P -0.929 T 0.0 T 0.0 T Pathogenic 3_75786737_A->T 3 75786737 75786737 A T snp 4340.77 0/1 99 249 98 151 0.61 exonic rs78297221 ZNF717 AU nonsynonymous SNV NM_001128223 exon5 c.T2037A p.N679K 0.5127 0.5360 0.16 T 0.190 P -0.998 T 0.493 P 0.034 P Pathogenic 3_75786740_C->G 3 75786740 75786740 C G snp 102.77 0/1 99 250 224 26 0.1 exonic rs74699492 ZNF717 AU nonsynonymous SNV NM_001128223 exon5 c.G2034C p.M678I 0.17 T 1 N -0.958 T 0.002 T 0.003 T Pathogenic 3_75786741_A->G 3 75786741 75786741 A G snp 4436.77 0/1 99 249 90 159 0.64 exonic rs79103664 ZNF717 AU nonsynonymous SNV NM_001128223 exon5 c.T2033C p.M678T 0.5 T 1 N -0.913 T 0.011 T 0.007 T Pathogenic 3_75786753_C->T 3 75786753 75786753 C T snp 1393.77 0/1 99 250 185 65 0.26 exonic rs3009020 ZNF717 AU nonsynonymous SNV NM_001128223 exon5 c.G2021A p.R674H 0.674321 0.8254 0.4281 0.4590 0.04 T 0.000 P -0.981 T 0.002 T 0.0 T Pathogenic 3_75786754_G->T 3 75786754 75786754 G T snp 88.77 0/1 99 250 230 20 0.08 exonic rs77394685 ZNF717 AU nonsynonymous SNV NM_001128223 exon5 c.C2020A p.R674S 0.07 T 0.994 N -0.975 T 0.005 T 0.002 T Pathogenic 3_75786759_T->C 3 75786759 75786759 T C snp 4793.77 0/1 99 250 81 169 0.68 exonic rs75759940 ZNF717 AU nonsynonymous SNV NM_001128223 exon5 c.A2015G p.K672R 0 D 1.000 N -0.950 T 0.003 T 0.003 T Pathogenic 3_75786773_T->A 3 75786773 75786773 T A snp 3959.77 0/1 99 249 99 150 0.6 exonic rs76175438 ZNF717 AU nonsynonymous SNV NM_001128223 exon5 c.A2001T p.R667S 0.01 T 0.985 N -1.054 T 0.89 T 0.451 P Pathogenic 3_75786802_G->A 3 75786802 75786802 G A snp 4301.77 0/1 99 250 97 153 0.61 exonic rs77826574 ZNF717 AU nonsynonymous SNV NM_001128223 exon5 c.C1972T p.R658C 0.2 T 1 N -0.871 T 0.994 D 0.387 D Pathogenic 3_75786827_A->T 3 75786827 75786827 A T snp 4874.77 0/1 99 250 75 175 0.7 exonic rs79635065 ZNF717 AU stopgain NM_001128223 exon5 c.T1947A p.C649X 1 T 1 D Pathogenic 3_75786832_C->T 3 75786832 75786832 C T snp 5786.77 0/1 99 250 44 206 0.82 exonic rs11122676 ZNF717 AU nonsynonymous SNV NM_001128223 exon5 c.G1942A p.V648I 0.674521 0.8254 0.4008 0.3818 0.09 T 0.0 P -0.919 T 0.0 T 0.001 T Pathogenic 3_75786845_T->C 3 75786845 75786845 T C snp 5379.77 0/1 99 250 52 198 0.79 exonic rs62250105 ZNF717 AU synonymous SNV NM_001128223 exon5 c.A1929G p.G643G 0.4901 0.5283 Uncertain 3_75786854_A->T 3 75786854 75786854 A T snp 4219.77 0/1 99 250 91 159 0.64 exonic rs76921234 ZNF717 AU synonymous SNV NM_001128223 exon5 c.T1920A p.T640T 0 0 Uncertain 3_75786888_C->T 3 75786888 75786888 C T snp 1075.77 0/1 99 250 198 52 0.21 exonic rs1615736 ZNF717 AU nonsynonymous SNV NM_001128223 exon5 c.G1886A p.R629H 0.5067 0.5348 0.37 T 0.0 P -0.919 T 0.0 T 0.0 T Pathogenic 3_75786892_A->C 3 75786892 75786892 A C snp 110.77 0/1 99 250 224 26 0.1 exonic rs76826286 ZNF717 AU nonsynonymous SNV NM_001128223 exon5 c.T1882G p.F628V 0 D 1.000 N -0.741 T 1.0 D 0.987 D Pathogenic 3_75786899_T->C 3 75786899 75786899 T C snp 133.77 0/1 99 250 221 29 0.12 exonic rs78828372 ZNF717 AU synonymous SNV NM_001128223 exon5 c.A1875G p.G625G 5.895e-05 0 Uncertain 3_75786910_T->C 3 75786910 75786910 T C snp 885.77 0/1 99 250 200 50 0.2 exonic rs200631700 ZNF717 AU nonsynonymous SNV NM_001128223 exon5 c.A1864G p.N622D 0.0922 0.1007 0.32 T 1 N -0.930 T 0.004 T 0.004 T Pathogenic 3_75786916_C->A 3 75786916 75786916 C A snp 116.77 0/1 99 250 224 26 0.1 exonic rs78906544 ZNF717 AU stopgain NM_001128223 exon5 c.G1858T p.E620X 1 T 1 D Pathogenic 3_75786919_A->T 3 75786919 75786919 A T snp 86.77 0/1 99 250 223 27 0.11 exonic rs77101176 ZNF717 AU nonsynonymous SNV NM_001128223 exon5 c.T1855A p.Y619N 0 D 0.992 N -0.994 T 0.998 D 0.933 D Pathogenic 3_75786942_C->A 3 75786942 75786942 C A snp 279.77 0/1 99 250 221 29 0.12 exonic rs2918517 ZNF717 AU nonsynonymous SNV NM_001128223 exon5 c.G1832T p.R611I 0.000399361 0.001 0.05 T 0.703 D -0.884 T 0.577 P 0.161 P Pathogenic 3_75786965_C->T 3 75786965 75786965 C T snp 3887.77 0/1 99 250 112 138 0.55 exonic rs112478715 ZNF717 AU synonymous SNV NM_001128223 exon5 c.G1809A p.K603K Uncertain 3_75786991_C->T 3 75786991 75786991 C T snp 4038.77 0/1 99 250 113 137 0.55 exonic rs112348731 ZNF717 AU nonsynonymous SNV NM_001128223 exon5 c.G1783A p.E595K 0.05 T 1 N -1.016 T 0.87 T 0.559 P Pathogenic 3_75787015_C->T 3 75787015 75787015 C T snp 252.77 0/1 99 250 222 28 0.11 exonic rs76263679 ZNF717 AU nonsynonymous SNV NM_001128223 exon5 c.G1759A p.G587S 0 D 0.929 D -0.810 T 1.0 D 0.999 D Pathogenic 3_75787032_T->C 3 75787032 75787032 T C snp 3516.77 0/1 99 250 130 120 0.48 exonic rs111273070 ZNF717 AU nonsynonymous SNV NM_001128223 exon5 c.A1742G p.H581R 0.01 T 0.910 N 0.078 D 0.035 T 0.038 T Pathogenic 3_75787043_G->A 3 75787043 75787043 G A snp 3792.77 0/1 99 250 126 124 0.5 exonic rs78806516 ZNF717 AU synonymous SNV NM_001128223 exon5 c.C1731T p.F577F Uncertain 3_75787044_-->ATGACTT 3 75787044 75787044 - ATGACTT indel 7952.73 0/1 99 249 122 127 0.51 exonic ZNF717 AU stopgain NM_001128223 exon5 c.1729_1730insAAGTCAT p.F577_L578delinsX Pathogenic 3_75787049_C->A 3 75787049 75787049 C A snp 56.77 0/1 85 249 229 20 0.08 exonic rs62250106 ZNF717 AU nonsynonymous SNV NM_001128223 exon5 c.G1725T p.K575N 0.5035 0.5517 0.64 T 0.0 P -1.028 T 0.901 T 0.206 P Pathogenic 3_75787057_G->A 3 75787057 75787057 G A snp 6141.77 0/1 99 250 61 189 0.76 exonic rs62250107 ZNF717 AU nonsynonymous SNV NM_001128223 exon5 c.C1717T p.H573Y 0.5027 0.5455 0.47 T 0.0 P -0.940 T 0.0 T 0.001 T Pathogenic 3_75787099_CT->- 3 75787099 75787100 CT - indel 5335.73 0/1 99 249 131 118 0.47 exonic rs146514807 ZNF717 AU frameshift deletion NM_001128223 exon5 c.1674_1675del p.T558fs ID=COSM1192025;OCCURENCE=2(large_intestine),1(central_nervous_system) Pathogenic 3_75787145_T->C 3 75787145 75787145 T C snp 3052.77 0/1 99 250 141 109 0.44 exonic rs79560192 ZNF717 AU synonymous SNV NM_001128223 exon5 c.A1629G p.T543T Uncertain 3_75787159_C->T 3 75787159 75787159 C T snp 3407.77 0/1 99 250 133 117 0.47 exonic rs77322475 ZNF717 AU nonsynonymous SNV NM_001128223 exon5 c.G1615A p.E539K 0.0035 0 0.08 T 1 N -0.977 T 0.236 T 0.014 T Pathogenic 3_75787169_G->A 3 75787169 75787169 G A snp 4109.77 0/1 99 249 113 136 0.55 exonic rs73843011 ZNF717 AU synonymous SNV NM_001128223 exon5 c.C1605T p.Y535Y 0.4157 0.375 Uncertain 3_75787186_C->T 3 75787186 75787186 C T snp 3770.77 0/1 99 245 119 126 0.51 exonic rs73843012 ZNF717 AU nonsynonymous SNV NM_001128223 exon5 c.G1588A p.A530T 0.3446 0.2727 1 T 0.001 P -0.926 T 0.0 T 0.0 T Pathogenic 3_75787199_A->C 3 75787199 75787199 A C snp 431.77 0/1 99 245 216 29 0.12 exonic rs138214171 ZNF717 AU nonsynonymous SNV NM_001128223 exon5 c.T1575G p.H525Q 0.2685 0.2143 0 D 0.022 P 0.755 D 1.0 D 0.987 D Pathogenic 3_75787202_G->T 3 75787202 75787202 G T snp 1846.77 0/1 99 238 163 75 0.32 exonic ZNF717 AU synonymous SNV NM_001128223 exon5 c.C1572A p.V524V Uncertain 3_75787204_C->A 3 75787204 75787204 C A snp 1839.77 0/1 99 238 168 70 0.29 exonic ZNF717 AU nonsynonymous SNV NM_001128223 exon5 c.G1570T p.V524F 0.34 T 1 N -1.017 T 0.888 T 0.346 P Pathogenic 3_75787208_G->A 3 75787208 75787208 G A snp 1336.77 0/1 99 236 178 58 0.25 exonic ZNF717 AU synonymous SNV NM_001128223 exon5 c.C1566T p.L522L Uncertain 3_75787221_C->T 3 75787221 75787221 C T snp 2456.77 0/1 99 217 133 84 0.39 exonic rs79089658 ZNF717 AU nonsynonymous SNV NM_001128223 exon5 c.G1553A p.C518Y 0.1277 0 1 T 0.0 P -0.924 T 0.001 T 0.0 T Pathogenic 3_75787222_A->G 3 75787222 75787222 A G snp 1409.77 0/1 99 216 160 56 0.26 exonic rs200005894 ZNF717 AU nonsynonymous SNV NM_001128223 exon5 c.T1552C p.C518R 0.56 T 1 N -0.915 T 0.0 T 0.0 T Pathogenic 3_75787224_C->G 3 75787224 75787224 C G snp 483.77 0/1 99 215 170 45 0.21 exonic rs112847134 ZNF717 AU nonsynonymous SNV NM_001128223 exon5 c.G1550C p.R517P 0.1129 0 0.16 T 0.0 P -0.948 T 0.078 T 0.082 T Pathogenic 3_75787225_G->A 3 75787225 75787225 G A snp 1435.77 0/1 99 214 159 55 0.26 exonic rs370022573 ZNF717 AU nonsynonymous SNV NM_001128223 exon5 c.C1549T p.R517C 0.15 T 1 N -0.989 T 0.0 T 0.001 T Pathogenic 3_75787228_A->C 3 75787228 75787228 A C snp 1446.77 0/1 99 211 156 55 0.26 exonic rs202139504 ZNF717 AU nonsynonymous SNV NM_001128223 exon5 c.T1546G p.F516V 0 D 0.997 N -0.796 T 1.0 D 0.999 D Pathogenic 3_75787235_C->T 3 75787235 75787235 C T snp 1409.77 0/1 99 205 150 55 0.27 exonic rs79550710 ZNF717 AU synonymous SNV NM_001128223 exon5 c.G1539A p.G513G Uncertain 3_75787236_C->T 3 75787236 75787236 C T snp 388.77 0/1 99 204 177 27 0.13 exonic rs113151880 ZNF717 AU nonsynonymous SNV NM_001128223 exon5 c.G1538A p.G513E 0.0736 0 0.06 T 0.495 P -1.036 T 1.0 D 0.99 D Pathogenic 3_75787240_A->G 3 75787240 75787240 A G snp 62.77 0/1 91 202 186 16 0.08 exonic rs76111663 ZNF717 AU nonsynonymous SNV NM_001128223 exon5 c.T1534C p.C512R 0 D 1.000 D 0.604 D 0.997 D 0.976 D Pathogenic 3_75787251_T->C 3 75787251 75787251 T C snp 1245.77 0/1 99 188 139 49 0.26 exonic ZNF717 AU nonsynonymous SNV NM_001128223 exon5 c.A1523G p.E508G 0.06 T 1 N -0.965 T 0.051 T 0.018 T Pathogenic 3_75787253_G->A 3 75787253 75787253 G A snp 1201.77 0/1 99 186 139 47 0.25 exonic rs373869907 ZNF717 AU synonymous SNV NM_001128223 exon5 c.C1521T p.Y507Y Uncertain 3_75787259_T->C 3 75787259 75787259 T C snp 1124.77 0/1 99 181 137 44 0.24 exonic ZNF717 AU synonymous SNV NM_001128223 exon5 c.A1515G p.K505K Uncertain 3_75787267_C->A 3 75787267 75787267 C A snp 270.77 0/1 99 159 140 19 0.12 exonic rs770035668 ZNF717 AU nonsynonymous SNV NM_001128223 exon5 c.G1507T p.G503W 0.0025 0 0 D 0.985 D -0.544 T 1.0 D 1.0 D Pathogenic 3_75787279_A->T 3 75787279 75787279 A T snp 697.77 0/1 99 109 85 24 0.22 exonic rs80214832 ZNF717 AU nonsynonymous SNV NM_001128223 exon5 c.T1495A p.W499R 0.0021 0 1 T 0.0 P -1.029 T 0.0 T 0.0 T Pathogenic 3_75787288_T->C 3 75787288 75787288 T C snp 499.77 0/1 99 102 81 21 0.21 exonic rs76815006 ZNF717 AU nonsynonymous SNV NM_001128223 exon5 c.A1486G p.I496V 0 0 0.32 T 0.0 P -0.991 T 0.0 T 0.001 T Pathogenic 3_75787298_T->C 3 75787298 75787298 T C snp 249.77 0/1 99 84 71 13 0.15 exonic rs113907537 ZNF717 AU synonymous SNV NM_001128223 exon5 c.A1476G p.S492S 0 0 Uncertain 3_75787299_G->A 3 75787299 75787299 G A snp 61.77 0/1 90 82 73 9 0.11 exonic rs760644578 ZNF717 AU nonsynonymous SNV NM_001128223 exon5 c.C1475T p.S492L 0 0 0.01 T 0.0 P -0.986 T 0.997 D 0.829 D Pathogenic 3_75787302_T->C 3 75787302 75787302 T C snp 144.77 0/1 99 78 69 9 0.12 exonic rs201966533 ZNF717 AU nonsynonymous SNV NM_001128223 exon5 c.A1472G p.K491R 0 0 0.67 T 0.0 P -0.918 T 0.077 T 0.007 T Pathogenic 3_75787313_C->G 3 75787313 75787313 C G snp 72.77 0/1 99 68 60 8 0.12 exonic rs372030153 ZNF717 AU synonymous SNV NM_001128223 exon5 c.G1461C p.T487T 0 0 Uncertain 3_75787321_C->T 3 75787321 75787321 C T snp 133.77 0/1 99 58 49 9 0.16 exonic rs202223162 ZNF717 AU nonsynonymous SNV NM_001128223 exon5 c.G1453A p.G485R 0 0 0.02 T 0.001 P -1.078 T 1.0 D 0.947 D Pathogenic 3_75787338_T->C 3 75787338 75787338 T C snp 76.77 0/1 99 64 57 7 0.11 exonic ZNF717 AU nonsynonymous SNV NM_001128223 exon5 c.A1436G p.Y479C 0 D 1 N -1.013 T 1.0 D 0.922 D Pathogenic 3_75787353_G->A 3 75787353 75787353 G A snp 177.77 0/1 99 67 54 13 0.19 exonic rs141733687 ZNF717 AU nonsynonymous SNV NM_001128223 exon5 c.C1421T p.T474I 0.02 T 0.880 N -1.042 T 0.803 T 0.303 P Pathogenic 3_75787372_A->T 3 75787372 75787372 A T snp 729.77 0/1 99 88 57 31 0.35 exonic rs62250108 ZNF717 AU nonsynonymous SNV NM_001128223 exon5 c.T1402A p.L468I 0 0 0.22 T 0.0 P -0.951 T 0.0 T 0.001 T Pathogenic 3_75787382_T->C 3 75787382 75787382 T C snp 2173.77 0/1 99 109 30 79 0.72 exonic rs139043174 ZNF717 AU synonymous SNV NM_001128223 exon5 c.A1392G p.S464S 0 0 Uncertain 3_75787405_C->T 3 75787405 75787405 C T snp 858.77 0/1 99 149 105 44 0.3 exonic rs73843014 ZNF717 AU nonsynonymous SNV NM_001128223 exon5 c.G1369A p.G457R 0.01 T 0.995 N -1.004 T 0.965 D 0.688 D Pathogenic 3_75787416_C->T 3 75787416 75787416 C T snp 1011.77 0/1 99 185 137 48 0.26 exonic rs10442977 ZNF717 AU nonsynonymous SNV NM_001128223 exon5 c.G1358A p.C453Y 0 D 0.930 N 0.102 D 1.0 D 0.996 D Pathogenic 3_75787424_C->G 3 75787424 75787424 C G snp 1748.77 0/1 99 196 121 75 0.38 exonic rs62250109 ZNF717 AU synonymous SNV NM_001128223 exon5 c.G1350C p.P450P 0 0 Uncertain 3_75787427_T->C 3 75787427 75787427 T C snp 1074.77 0/1 99 200 150 50 0.25 exonic rs76082496 ZNF717 AU synonymous SNV NM_001128223 exon5 c.A1347G p.K449K Uncertain 3_75787455_A->G 3 75787455 75787455 A G snp 447.77 0/1 99 222 193 29 0.13 exonic rs201246393 ZNF717 AU nonsynonymous SNV NM_001128223 exon5 c.T1319C p.V440A 0.0022 0 0.78 T 0.0 P -0.944 T 0.013 T 0.031 T Pathogenic 3_75787462_G->A 3 75787462 75787462 G A snp 380.77 0/1 99 233 205 28 0.12 exonic rs200782802 ZNF717 AU nonsynonymous SNV NM_001128223 exon5 c.C1312T p.L438F 0.0017 0 0.04 T 1 N -0.878 T 1.0 D 0.993 D Pathogenic 3_75787463_C->T 3 75787463 75787463 C T snp 431.77 0/1 99 236 207 29 0.12 exonic rs775786972 ZNF717 AU synonymous SNV NM_001128223 exon5 c.G1311A p.R437R 0.0026 0 Uncertain 3_75787464_C->T 3 75787464 75787464 C T snp 1295.77 0/1 99 241 182 59 0.24 exonic rs74861398 ZNF717 AU nonsynonymous SNV NM_001128223 exon5 c.G1310A p.R437K 0.93 T 1 N -0.935 T 0.041 T 0.055 T Pathogenic 3_75787474_G->A 3 75787474 75787474 G A snp 616.77 0/1 99 250 213 37 0.15 exonic rs202070324 ZNF717 AU nonsynonymous SNV NM_001128223 exon5 c.C1300T p.H434Y 0.0093 0 1 T 1 N -1.081 T 0.961 D 0.66 D Pathogenic 3_75787476_C->A 3 75787476 75787476 C A snp 678.77 0/1 99 250 211 39 0.16 exonic rs113228636 ZNF717 AU nonsynonymous SNV NM_001128223 exon5 c.G1298T p.S433I 0.01 0 0.17 T 1 N -1.118 T 0.997 D 0.873 D Pathogenic 3_75787486_C->T 3 75787486 75787486 C T snp 2533.77 0/1 99 250 152 98 0.39 exonic rs77649281 ZNF717 AU nonsynonymous SNV NM_001128223 exon5 c.G1288A p.E430K 0.0145 0 1 T 1 N -0.940 T 0.0 T 0.0 T Pathogenic 3_75787490_A->T 3 75787490 75787490 A T snp 978.77 0/1 99 250 201 49 0.2 exonic rs201399274 ZNF717 AU stopgain NM_001128223 exon5 c.T1284A p.C428X 0.0155 0 1 T 1.0 P Pathogenic 3_75787511_C->A 3 75787511 75787511 C A snp 1048.77 0/1 99 250 199 51 0.2 exonic rs200040093 ZNF717 AU nonsynonymous SNV NM_001128223 exon5 c.G1263T p.K421N 0.0305 0 0.01 T 0.984 N -1.014 T 1.0 D 0.992 D Pathogenic 3_75787516_C->G 3 75787516 75787516 C G snp 1000.77 0/1 99 250 200 50 0.2 exonic rs79870536 ZNF717 AU nonsynonymous SNV NM_001128223 exon5 c.G1258C p.E420Q 0.01 T 0.983 N -1.053 T 0.955 T 0.617 D Pathogenic 3_75787519_C->A 3 75787519 75787519 C A snp 1009.77 0/1 99 250 199 51 0.2 exonic rs200805142 ZNF717 AU nonsynonymous SNV NM_001128223 exon5 c.G1255T p.G419W 0 D 0.996 N -1.104 T 1.0 D 0.998 D Pathogenic 3_75787520_T->G 3 75787520 75787520 T G snp 2578.77 0/1 99 250 151 99 0.4 exonic rs181132116 ZNF717 AU synonymous SNV NM_001128223 exon5 c.A1254C p.T418T 0.0355 0 Uncertain 3_75787576_A->G 3 75787576 75787576 A G snp 1241.77 0/1 99 250 194 56 0.22 exonic rs141348932 ZNF717 AU nonsynonymous SNV NM_001128223 exon5 c.T1198C p.C400R 0.3065 0.4 0 D 1.000 P 0.494 D 0.999 D 0.945 D Pathogenic 3_75787583_A->G 3 75787583 75787583 A G snp 1205.77 0/1 99 250 193 57 0.23 exonic rs144348996 ZNF717 AU synonymous SNV NM_001128223 exon5 c.T1191C p.C397C 0.3429 0.4 Uncertain 3_75787620_T->C 3 75787620 75787620 T C snp 1526.77 0/1 99 250 180 70 0.28 exonic rs75737034 ZNF717 AU nonsynonymous SNV NM_001128223 exon5 c.A1154G p.H385R 0.3228 0.425 0.01 T 0.006 P 0.775 D 1.0 D 0.957 D Pathogenic 3_75787637_C->T 3 75787637 75787637 C T snp 1136.77 0/1 99 250 198 52 0.21 exonic rs145802847 ZNF717 AU synonymous SNV NM_001128223 exon5 c.G1137A p.K379K Uncertain 3_75787679_T->C 3 75787679 75787679 T C snp 1118.77 0/1 99 249 197 52 0.21 exonic rs74620322 ZNF717 AU synonymous SNV NM_001128223 exon5 c.A1095G p.K365K Uncertain 3_75787688_T->A 3 75787688 75787688 T A snp 1782.77 0/1 99 245 179 66 0.27 exonic rs77688099 ZNF717 AU synonymous SNV NM_001128223 exon5 c.A1086T p.T362T Uncertain 3_75787691_G->A 3 75787691 75787691 G A snp 486.77 0/1 99 243 212 31 0.13 exonic rs376405236 ZNF717 AU synonymous SNV NM_001128223 exon5 c.C1083T p.H361H Uncertain 3_75787702_C->G 3 75787702 75787702 C G snp 5709.77 0/1 99 250 69 181 0.72 exonic rs62250110 ZNF717 AU nonsynonymous SNV NM_001128223 exon5 c.G1072C p.E358Q 0.4632 0.5342 1 T 0.0 P -0.942 T 0.0 T 0.0 T Pathogenic 3_75787712_G->A 3 75787712 75787712 G A snp 2395.77 0/1 99 250 164 86 0.34 exonic rs370446336 ZNF717 AU synonymous SNV NM_001128223 exon5 c.C1062T p.L354L Uncertain 3_75787725_C->T 3 75787725 75787725 C T snp 2933.77 0/1 99 250 149 101 0.4 exonic rs186706183 ZNF717 AU nonsynonymous SNV NM_001128223 exon5 c.G1049A p.R350H 0.0065 0 0.45 T 1 N -0.997 T 0.972 D 0.332 D Pathogenic 3_75787726_G->A 3 75787726 75787726 G A snp 2957.77 0/1 99 250 150 100 0.4 exonic rs1962893 ZNF717 AU nonsynonymous SNV NM_001128223 exon5 c.C1048T p.R350C 0.18 T 0.0 P -1.069 T 0.997 D 0.688 D Pathogenic 3_75787728_C->T 3 75787728 75787728 C T snp 1121.77 0/1 99 250 200 50 0.2 exonic rs75074846 ZNF717 AU nonsynonymous SNV NM_001128223 exon5 c.G1046A p.R349H 0.3083 0.4104 0.21 T 0.0 P -0.977 T 0.0 T 0.0 T Pathogenic 3_75787729_G->A 3 75787729 75787729 G A snp 2726.77 0/1 99 250 151 99 0.4 exonic rs373583704 ZNF717 AU nonsynonymous SNV NM_001128223 exon5 c.C1045T p.R349C 0.09 T 1 N -0.989 T 0.0 T 0.001 T Pathogenic 3_75787732_A->C 3 75787732 75787732 A C snp 3725.77 0/1 99 249 124 125 0.5 exonic rs74776730 ZNF717 AU nonsynonymous SNV NM_001128223 exon5 c.T1042G p.F348V 0 D 1.000 N -0.829 T 0.979 D 0.894 D Pathogenic 3_75787739_A->T 3 75787739 75787739 A T snp 8963.77 1/1 99 250 0 250 1.0 exonic rs141238251 ZNF717 AU synonymous SNV NM_001128223 exon5 c.T1035A p.G345G 0.00299521 0.0415 0.0526 Uncertain 3_75787794_A->G 3 75787794 75787794 A G snp 6031.77 0/1 99 249 66 183 0.73 exonic rs75467043 ZNF717 AU nonsynonymous SNV NM_001128223 exon5 c.T980C p.I327T 0.0017 0 0.93 T 1 N -0.999 T 0.0 T 0.0 T Pathogenic 3_75787801_T->C 3 75787801 75787801 T C snp 3480.77 0/1 99 250 137 113 0.45 exonic rs200891949 ZNF717 AU nonsynonymous SNV NM_001128223 exon5 c.A973G p.S325G 0.47 T 1 N -0.968 T 0.361 T 0.246 T Pathogenic 3_75787802_G->A 3 75787802 75787802 G A snp 3633.77 0/1 99 250 133 117 0.47 exonic rs201430954 ZNF717 AU synonymous SNV NM_001128223 exon5 c.C972T p.S324S Uncertain 3_75787809_T->C 3 75787809 75787809 T C snp 5457.77 0/1 99 250 85 165 0.66 exonic rs142370851 ZNF717 AU nonsynonymous SNV NM_001128223 exon5 c.A965G p.Y322C 0.647764 0.8194 0.0011 0.0106 0.21 T 0.0 P -0.997 T 0.0 T 0.0 T Pathogenic 3_75787829_C->G 3 75787829 75787829 C G snp 305.77 0/1 99 250 224 26 0.1 exonic rs150361978 ZNF717 AU nonsynonymous SNV NM_001128223 exon5 c.G945C p.W315C 0.01 T 0.998 N -1.024 T 0.79 T 0.074 P Pathogenic 3_75787863_A->T 3 75787863 75787863 A T snp 154.77 0/1 99 250 225 25 0.1 exonic rs763528206 ZNF717 AU nonsynonymous SNV NM_001128223 exon5 c.T911A p.M304K 0 0 0.02 T 1 N -0.979 T 0.013 T 0.02 T Pathogenic 3_75787864_T->A 3 75787864 75787864 T A snp 163.77 0/1 99 250 225 25 0.1 exonic rs774008077 ZNF717 AU nonsynonymous SNV NM_001128223 exon5 c.A910T p.M304L 0 0 0.36 T 1 N -0.949 T 0.001 T 0.001 T Pathogenic 3_75787869_C->T 3 75787869 75787869 C T snp 5687.77 0/1 99 247 75 172 0.7 exonic rs201766078 ZNF717 AU nonsynonymous SNV NM_001128223 exon5 c.G905A p.C302Y 0.0005 0 0.11 T 1 N -0.976 T 0.0 T 0.0 T Pathogenic 3_75787870_A->G 3 75787870 75787870 A G snp 5616.77 0/1 99 247 76 171 0.69 exonic rs199839139 ZNF717 AU nonsynonymous SNV NM_001128223 exon5 c.T904C p.C302R 0.0006 0 0.22 T 1.000 N -0.948 T 0.0 T 0.0 T Pathogenic 3_75787876_G->T 3 75787876 75787876 G T snp 5877.77 0/1 99 250 69 181 0.72 exonic rs78514077 ZNF717 AU nonsynonymous SNV NM_001128223 exon5 c.C898A p.L300I 0.0006 0 0.54 T 1 N -0.953 T 0.0 T 0.0 T Pathogenic 3_75787897_T->C 3 75787897 75787897 T C snp 3374.77 0/1 99 250 132 118 0.47 exonic rs77452021 ZNF717 AU nonsynonymous SNV NM_001128223 exon5 c.A877G p.I293V 0.28 T 1 N -0.995 T 0.103 T 0.022 T Pathogenic 3_75787918_C->T 3 75787918 75787918 C T snp 368.77 0/1 99 249 220 29 0.12 exonic rs199663998 ZNF717 AU nonsynonymous SNV NM_001128223 exon5 c.G856A p.V286I 0.0006 0 0.15 T 1 N -0.987 T 0.0 T 0.001 T Pathogenic 3_75787926_T->C 3 75787926 75787926 T C snp 303.77 0/1 99 250 223 27 0.11 exonic rs200828229 ZNF717 AU nonsynonymous SNV NM_001128223 exon5 c.A848G p.Y283C 0.0006 0 0.02 T 1 N -0.975 T 0.244 T 0.152 T Pathogenic 3_75787927_A->G 3 75787927 75787927 A G snp 4536.77 0/1 99 250 94 156 0.62 exonic rs75388892 ZNF717 AU nonsynonymous SNV NM_001128223 exon5 c.T847C p.Y283H 0.04 T 1.000 N -0.976 T 0.088 T 0.152 T Pathogenic 3_75787949_C->T 3 75787949 75787949 C T snp 5348.77 0/1 99 250 74 176 0.7 exonic rs76105745 ZNF717 AU synonymous SNV NM_001128223 exon5 c.G825A p.Q275Q 0.0004 0 Uncertain 3_75787961_A->G 3 75787961 75787961 A G snp 3817.77 0/1 99 250 126 124 0.5 exonic rs76334908 ZNF717 AU synonymous SNV NM_001128223 exon5 c.T813C p.T271T Uncertain 3_75787962_G->C 3 75787962 75787962 G C snp 259.77 0/1 99 250 222 28 0.11 exonic rs79540623 ZNF717 AU nonsynonymous SNV NM_001128223 exon5 c.C812G p.T271S 0.44 T 1 N -0.956 T 0.051 T 0.011 T Pathogenic 3_75787996_C->T 3 75787996 75787996 C T snp 144.77 0/1 99 250 227 23 0.09 exonic rs78640256 ZNF717 AU nonsynonymous SNV NM_001128223 exon5 c.G778A p.G260R 0.1 T 0.997 N -0.994 T 0.999 D 0.889 D Pathogenic 3_75788010_A->C 3 75788010 75788010 A C snp 8593.77 1/1 99 250 1 249 1.0 exonic rs151311432 ZNF717 AU nonsynonymous SNV NM_001128223 exon5 c.T764G p.V255G 0 0 0.3 T 0.000 P -0.972 T 0.0 T 0.0 T Pathogenic 3_75788023_C->T 3 75788023 75788023 C T snp 4827.77 0/1 99 250 91 159 0.64 exonic rs76889571 ZNF717 AU nonsynonymous SNV NM_001128223 exon5 c.G751A p.V251I 0.37 T 1 N -0.950 T 0.001 T 0.001 T Pathogenic 3_75788028_G->C 3 75788028 75788028 G C snp 3905.77 0/1 99 250 99 151 0.6 exonic rs77971486 ZNF717 AU stopgain NM_001128223 exon5 c.C746G p.S249X 0.14 T 1 D Pathogenic 3_75788068_A->C 3 75788068 75788068 A C snp 3450.77 0/1 99 248 134 114 0.46 exonic rs74357986 ZNF717 AU nonsynonymous SNV NM_001128223 exon5 c.T706G p.F236V 0.05 T 1 N -0.956 T 0.165 T 0.03 T Pathogenic 3_75788076_A->C 3 75788076 75788076 A C snp 5507.77 0/1 99 250 71 179 0.72 exonic rs62250111 ZNF717 AU nonsynonymous SNV NM_001128223 exon5 c.T698G p.V233G 1 T 0.330 P -0.921 T 0.0 T 0.0 T Pathogenic 3_75788088_C->T 3 75788088 75788088 C T snp 101.77 0/1 99 248 223 25 0.1 exonic rs77856895 ZNF717 AU nonsynonymous SNV NM_001128223 exon5 c.G686A p.R229K 0.21 T 1 N -0.955 T 0.053 T 0.012 T Pathogenic 3_75788115_G->A 3 75788115 75788115 G A snp 5553.77 0/1 99 250 72 178 0.71 exonic rs62246570 ZNF717 AU nonsynonymous SNV NM_001128223 exon5 c.C659T p.T220M 0.22 T 1 N -0.975 T 0.996 D 0.445 D Pathogenic 3_75788130_C->A 3 75788130 75788130 C A snp 4435.77 0/1 99 250 94 156 0.62 exonic rs113708852 ZNF717 AU nonsynonymous SNV NM_001128223 exon5 c.G644T p.G215V 0.02 T 1.000 N -0.678 T 0.759 T 0.249 P Pathogenic 3_75788150_-->G 3 75788150 75788150 - G indel 4555.73 0/1 99 249 93 156 0.63 exonic rs143871834 ZNF717 AU frameshift insertion NM_001128223 exon5 c.623dupC p.T208fs Pathogenic 3_75788152_T->C 3 75788152 75788152 T C snp 4913.77 0/1 99 248 68 180 0.73 exonic rs76179262 ZNF717 AU nonsynonymous SNV NM_001128223 exon5 c.A622G p.T208A 0.0001 0 0.07 T 0.0 P -1.087 T 0.001 T 0.001 T Pathogenic 3_75788158_G->C 3 75788158 75788158 G C snp 527.77 0/1 99 250 218 32 0.13 exonic rs143605267 ZNF717 AU nonsynonymous SNV NM_001128223 exon5 c.C616G p.L206V 0.04 T 0.0 P -1.017 T 0.61 T 0.088 P Pathogenic 3_75788192_T->C 3 75788192 75788192 T C snp 79.77 0/1 99 250 226 24 0.1 exonic rs568254497 ZNF717 AU synonymous SNV NM_001128223 exon5 c.A582G p.E194E 8.163e-05 0 Uncertain 3_75788195_A->T 3 75788195 75788195 A T snp 153.77 0/1 99 250 224 26 0.1 exonic rs527459373 ZNF717 AU nonsynonymous SNV NM_001128223 exon5 c.T579A p.H193Q 0.35 T 0.0 P -1.030 T 0.041 T 0.009 T Pathogenic 3_75788199_T->C 3 75788199 75788199 T C snp 4688.77 0/1 99 250 100 150 0.6 exonic rs77110669 ZNF717 AU nonsynonymous SNV NM_001128223 exon5 c.A575G p.H192R 0.59 T 1 N -1.020 T 0.084 T 0.022 T Pathogenic 3_75788226_C->A 3 75788226 75788226 C A snp 4769.77 0/1 99 247 58 189 0.77 exonic rs142645929 ZNF717 AU nonsynonymous SNV NM_001128223 exon5 c.G548T p.C183F 0.04 T 1 N -0.568 T 0.214 T 0.102 T Pathogenic 3_75788227_A->G 3 75788227 75788227 A G snp 6018.77 0/1 99 247 61 186 0.75 exonic rs138751618 ZNF717 AU nonsynonymous SNV NM_001128223 exon5 c.T547C p.C183R 0.02 T 1 N -0.165 T 0.214 T 0.07 T Pathogenic 3_75788245_C->T 3 75788245 75788245 C T snp 214.77 0/1 99 250 227 23 0.09 exonic rs79835104 ZNF717 AU nonsynonymous SNV NM_001128223 exon5 c.G529A p.G177R 0.12 T 0.613 N -0.431 T 0.991 D 0.885 D Pathogenic 3_75788258_C->A 3 75788258 75788258 C A snp 5521.77 0/1 99 249 62 187 0.75 exonic rs79526626 ZNF717 AU synonymous SNV NM_001128223 exon5 c.G516T p.G172G Uncertain 3_75788260_C->A 3 75788260 75788260 C A snp 201.77 0/1 99 250 223 27 0.11 exonic ZNF717 AU nonsynonymous SNV NM_001128223 exon5 c.G514T p.G172W 0 D 1 N -1.061 T 0.964 D 0.624 D Pathogenic 3_75788270_A->T 3 75788270 75788270 A T snp 185.77 0/1 99 250 225 25 0.1 exonic ZNF717 AU synonymous SNV NM_001128223 exon5 c.T504A p.P168P Uncertain 3_75788281_T->C 3 75788281 75788281 T C snp 5371.77 0/1 99 250 63 187 0.75 exonic rs76243986 ZNF717 AU nonsynonymous SNV NM_001128223 exon5 c.A493G p.M165V 0.56 T 1 N -1.023 T 0.0 T 0.0 T Pathogenic 3_75788291_A->G 3 75788291 75788291 A G snp 3882.77 0/1 99 248 111 137 0.55 exonic rs138877004 ZNF717 AU synonymous SNV NM_001128223 exon5 c.T483C p.D161D Uncertain 3_75788292_T->A 3 75788292 75788292 T A snp 5070.77 0/1 99 247 68 179 0.72 exonic rs73843015 ZNF717 AU nonsynonymous SNV NM_001128223 exon5 c.A482T p.D161V 0.19 T 1 N -1.055 T 0.0 T 0.0 T Pathogenic 3_75788294_A->G 3 75788294 75788294 A G snp 199.77 0/1 99 250 224 26 0.1 exonic ZNF717 AU synonymous SNV NM_001128223 exon5 c.T480C p.N160N Uncertain 3_75788314_T->C 3 75788314 75788314 T C snp 93.77 0/1 99 248 227 21 0.08 exonic rs79381924 ZNF717 AU nonsynonymous SNV NM_001128223 exon5 c.A460G p.M154V 0.07 T 1 N -1.039 T 0.018 T 0.004 T Pathogenic 3_75788316_C->T 3 75788316 75788316 C T snp 3934.77 0/1 99 250 111 139 0.56 exonic rs79165653 ZNF717 AU nonsynonymous SNV NM_001128223 exon5 c.G458A p.G153E 0.25 T 1 N -1.005 T 0.981 D 0.792 D Pathogenic 3_75788362_A->T 3 75788362 75788362 A T snp 191.77 0/1 99 248 223 25 0.1 exonic rs754406448 ZNF717 AU nonsynonymous SNV NM_001128223 exon5 c.T412A p.S138T 0.0018 0 0.25 T 1 N -1.016 T 0.023 T 0.012 T Pathogenic 3_75788366_C->A 3 75788366 75788366 C A snp 936.77 0/1 99 250 200 50 0.2 exonic rs80085410 ZNF717 AU nonsynonymous SNV NM_001128223 exon5 c.G408T p.L136F 0.0019 0 0.7 T 1 N -0.960 T 0.176 T 0.078 T Pathogenic 3_75788382_C->T 3 75788382 75788382 C T snp 30.77 0/1 59 243 223 20 0.08 exonic rs765437155 ZNF717 AU nonsynonymous SNV NM_001128223 exon5 c.G392A p.G131E 0.0849 0.1667 0.17 T 1 N -1.007 T 0.003 T 0.006 T Pathogenic 3_75788434_G->T 3 75788434 75788434 G T snp 2949.77 0/1 99 212 87 125 0.59 exonic rs4011155 ZNF717 AU nonsynonymous SNV NM_001128223 exon5 c.C340A p.Q114K 0.71 T 1 N -1.039 T 0.588 P 0.118 P Pathogenic 3_75788484_A->G 3 75788484 75788484 A G snp 50.77 0/1 79 173 158 15 0.09 exonic rs74485599 ZNF717 AU nonsynonymous SNV NM_001128223 exon5 c.T290C p.I97T 0.44 T 1 N -0.998 T 0.005 T 0.007 T Pathogenic 3_75788507_A->- 3 75788507 75788507 A - indel 3398.73 0/1 99 152 28 124 0.82 intronic rs138499023 ZNF717 AU NM_001128223 exon1 c.2468+11delA 0.079057 0.2924 0.25 Uncertain 3_75788513_G->C 3 75788513 75788513 G C snp 2271.77 0/1 99 136 43 93 0.68 intronic rs78030174 ZNF717 AU NM_001128223 exon1 c.2468+17G>C Uncertain 3_75788532_T->G 3 75788532 75788532 T G snp 1925.77 0/1 99 110 32 78 0.71 intronic rs62246571 ZNF717 AU NM_001128223 exon1 c.2468+36T>G Uncertain 3_75788545_C->A 3 75788545 75788545 C A snp 1356.77 0/1 99 89 36 53 0.6 intronic rs4011154 ZNF717 AU NM_001128223 exon1 c.2468+49C>A Uncertain 3_75788565_A->G 3 75788565 75788565 A G snp 1105.77 0/1 99 63 21 42 0.67 intronic rs75435225 ZNF717 AU NM_001128223 exon1 c.2468+69A>G Uncertain 3_75788585_T->C 3 75788585 75788585 T C snp 1075.77 0/1 99 42 8 34 0.81 intronic rs4086573 ZNF717 AU NM_001128223 exon1 c.2468+89T>C Uncertain 3_75788604_C->T 3 75788604 75788604 C T snp 405.77 0/1 99 20 7 13 0.65 intronic rs80084373 ZNF717 AU NM_001128223 exon1 c.2468+108C>T Uncertain 3_75788611_A->T 3 75788611 75788611 A T snp 267.77 0/1 99 13 5 8 0.62 intronic rs76836573 ZNF717 AU NM_001128223 exon1 c.2468+115A>T Uncertain 3_75788614_-->A 3 75788614 75788614 - A indel 223.73 0/1 99 12 5 7 0.58 intronic rs145147578 ZNF717 AU NM_001128223 exon1 c.2468+118insA Uncertain 3_75788633_T->C 3 75788633 75788633 T C snp 68.77 0/1 97 7 4 3 0.43 intronic rs141414472 ZNF717 AU NM_001128223 exon1 c.2468+137T>C Uncertain 3_75788644_T->C 3 75788644 75788644 T C snp 56.74 1/1 6 2 0 2 1.0 intronic rs1837273 ZNF717 AU NM_001128223 exon1 c.2468+148T>C Uncertain 3_75790296_C->G 3 75790296 75790296 C G snp 117.77 0/1 60 6 2 4 0.67 intronic rs73843024 ZNF717 AU NM_001128223 exon2 c.4398-130C>G Uncertain 3_75790298_C->T 3 75790298 75790298 C T snp 77.77 0/1 99 7 4 3 0.43 intronic rs12164508 ZNF717 AU NM_001128223 exon2 c.4398-128C>T Uncertain 3_75790306_G->A 3 75790306 75790306 G A snp 208.77 0/1 99 12 5 7 0.58 intronic rs73843026 ZNF717 AU NM_001128223 exon2 c.4398-120G>A Uncertain 3_75790318_C->T 3 75790318 75790318 C T snp 495.77 0/1 99 22 8 14 0.64 intronic rs74735772 ZNF717 AU NM_001128223 exon2 c.4398-108C>T Uncertain 3_75790370_A->C 3 75790370 75790370 A C snp 2345.77 0/1 99 118 40 78 0.66 intronic rs75296464 ZNF717 AU NM_001128223 exon2 c.4398-56A>C Uncertain 3_75790376_T->C 3 75790376 75790376 T C snp 2666.77 0/1 99 134 42 92 0.69 intronic rs78006287 ZNF717 AU NM_001128223 exon2 c.4398-50T>C Uncertain 3_75790406_G->C 3 75790406 75790406 G C snp 3276.77 0/1 99 207 87 120 0.58 intronic rs77155849 ZNF717 AU NM_001128223 exon2 c.4398-20G>C Uncertain 3_75790409_T->C 3 75790409 75790409 T C snp 3908.77 0/1 99 212 74 138 0.65 intronic rs73843027 ZNF717 AU NM_001128223 exon2 c.4398-17T>C 0 0 Uncertain 3_75790410_G->A 3 75790410 75790410 G A snp 3852.77 0/1 99 220 81 139 0.63 intronic rs199519591 ZNF717 AU NM_001128223 exon2 c.4398-16G>A 0 0 Uncertain 3_75790427_C->T 3 75790427 75790427 C T snp 40.77 0/1 69 250 233 17 0.07 exonic rs199946555 ZNF717 AU nonsynonymous SNV NM_001128223 exon4 c.G277A p.A93T 0.0002 0 0.001 P -0.886 T 0.743 T 0.032 P Pathogenic 3_75790444_G->A 3 75790444 75790444 G A snp 2255.77 0/1 99 250 164 86 0.34 exonic rs141084845 ZNF717 AU nonsynonymous SNV NM_001128223 exon4 c.C260T p.P87L 0.31 T 1 N -1.102 T 0.604 T 0.052 P Pathogenic 3_75790479_C->T 3 75790479 75790479 C T snp 3743.77 0/1 99 250 119 131 0.52 exonic rs79902868 ZNF717 AU synonymous SNV NM_001128223 exon4 c.G225A p.E75E Uncertain 3_75790513_T->C 3 75790513 75790513 T C snp 8415.77 1/1 99 249 0 249 1.0 exonic rs149568659 ZNF717 AU nonsynonymous SNV NM_001128223 exon4 c.A191G p.Y64C 0.00199681 0 0 0.2 T 0.0 P -1.095 T 0.0 T 0.0 T Pathogenic 3_75790516_T->A 3 75790516 75790516 T A snp 268.77 0/1 99 250 221 29 0.12 exonic rs201105907 ZNF717 AU nonsynonymous SNV NM_001128223 exon4 c.A188T p.H63L 0 0 0.73 T 0.0 P -0.999 T 0.753 T 0.121 P Pathogenic 3_75790527_T->C 3 75790527 75790527 T C snp 83.77 0/1 99 250 230 20 0.08 intronic rs144222217 ZNF717 AU NM_001128223 exon2 c.4491+8T>C Uncertain 3_75790536_A->T 3 75790536 75790536 A T snp 139.77 0/1 99 250 225 25 0.1 intronic rs148282009 ZNF717 AU NM_001128223 exon2 c.4491+17A>T 0.0002 0 Uncertain 3_75790542_G->T 3 75790542 75790542 G T snp 3797.77 0/1 99 250 118 132 0.53 intronic rs80086365 ZNF717 AU NM_001128223 exon2 c.4491+23G>T Uncertain 3_75790554_C->T 3 75790554 75790554 C T snp 4169.77 0/1 99 249 108 141 0.57 intronic rs77885642 ZNF717 AU NM_001128223 exon2 c.4491+35C>T 0.0003 0 Uncertain 3_75790583_G->A 3 75790583 75790583 G A snp 5142.77 0/1 99 247 80 167 0.68 intronic rs73843028 ZNF717 AU NM_001128223 exon2 c.4491+64G>A Uncertain 3_75790585_C->G 3 75790585 75790585 C G snp 3469.77 0/1 99 249 107 142 0.57 intronic rs73843029 ZNF717 AU NM_001128223 exon2 c.4491+66C>G Uncertain 3_75790607_C->T 3 75790607 75790607 C T snp 4198.77 0/1 99 248 106 142 0.57 intronic rs76935257 ZNF717 AU NM_001128223 exon2 c.4491+88C>T Uncertain 3_75790636_-->AC 3 75790636 75790636 - AC indel 6252.73 0/1 99 240 102 138 0.57 intronic rs147192756 ZNF717 AU NM_001128223 exon2 c.4491+117insAC Uncertain 3_75790640_G->A 3 75790640 75790640 G A snp 174.77 0/1 99 233 189 44 0.19 intronic rs75729997 ZNF717 AU NM_001128223 exon3 c.4732-120G>A Uncertain 3_75790643_G->A 3 75790643 75790643 G A snp 3856.77 0/1 99 231 97 134 0.58 intronic rs77370954 ZNF717 AU NM_001128223 exon3 c.4732-117G>A Uncertain 3_75790663_T->C 3 75790663 75790663 T C snp 3241.77 0/1 99 201 87 114 0.57 intronic rs150491489 ZNF717 AU NM_001128223 exon3 c.4732-97T>C Uncertain 3_75790664_G->A 3 75790664 75790664 G A snp 3072.77 0/1 99 201 88 113 0.56 intronic rs138792645 ZNF717 AU NM_001128223 exon3 c.4732-96G>A Uncertain 3_75790668_G->T 3 75790668 75790668 G T snp 3687.77 0/1 99 200 69 131 0.66 intronic rs73843030 ZNF717 AU NM_001128223 exon3 c.4732-92G>T Uncertain 3_75790670_T->C 3 75790670 75790670 T C snp 2704.77 0/1 99 204 109 95 0.47 intronic rs200805181 ZNF717 AU NM_001128223 exon3 c.4732-90T>C Uncertain 3_75790704_C->T 3 75790704 75790704 C T snp 1919.77 0/1 99 149 87 62 0.42 intronic rs75141797 ZNF717 AU NM_001128223 exon3 c.4732-56C>T Uncertain 3_75790717_G->A 3 75790717 75790717 G A snp 2384.77 0/1 99 151 79 72 0.48 intronic rs62246576 ZNF717 AU NM_001128223 exon3 c.4732-43G>A 0.0129 0.0385 Uncertain 3_75790726_T->C 3 75790726 75790726 T C snp 2100.77 0/1 99 143 77 66 0.46 intronic rs78541472 ZNF717 AU NM_001128223 exon3 c.4732-34T>C 0.0167 0.0385 Uncertain 3_75790730_A->T 3 75790730 75790730 A T snp 2145.77 0/1 99 150 83 67 0.45 intronic rs74203237 ZNF717 AU NM_001128223 exon3 c.4732-30A>T 0.0171 0.0370 Uncertain 3_75790747_C->G 3 75790747 75790747 C G snp 2053.77 0/1 99 161 90 71 0.44 intronic rs73843031 ZNF717 AU NM_001128223 exon3 c.4732-13C>G 0.0346 0.1034 Uncertain 3_75790791_G->C 3 75790791 75790791 G C snp 837.77 0/1 99 231 189 42 0.18 exonic rs72503552 ZNF717 AU nonsynonymous SNV NM_001128223 exon3 c.C154G p.L52V 0.02 T 0.992 N -1.083 T 0.995 D 0.782 D Pathogenic 3_75790797_C->T 3 75790797 75790797 C T snp 234.77 0/1 99 247 218 29 0.12 exonic rs147946451 ZNF717 AU nonsynonymous SNV NM_001128223 exon3 c.G148A p.V50M 0.0860 0.0927 0.01 T 0.108 P -1.022 T 1.0 D 0.929 D Pathogenic 3_75790811_G->T 3 75790811 75790811 G T snp 236.77 0/1 99 250 222 28 0.11 exonic rs199577560 ZNF717 AU nonsynonymous SNV NM_001128223 exon3 c.C134A p.T45N 0.0715 0.0666 0.55 T 0.999 N -0.888 T 0.996 D 0.789 D Pathogenic 3_75790814_C->T 3 75790814 75790814 C T snp 240.77 0/1 99 250 221 29 0.12 exonic rs200578600 ZNF717 AU nonsynonymous SNV NM_001128223 exon3 c.G131A p.R44K 0.0714 0.0686 0.55 T 0.994 N -0.895 T 0.036 T 0.025 T Pathogenic 3_75790822_A->G 3 75790822 75790822 A G snp 5049.77 0/1 99 250 57 193 0.77 exonic rs147081315 ZNF717 AU synonymous SNV NM_001128223 exon3 c.T123C p.D41D Uncertain 3_75790838_C->T 3 75790838 75790838 C T snp 493.77 0/1 99 250 216 34 0.14 exonic rs113991634 ZNF717 AU stopgain NM_001128223 exon3 c.G107A p.W36X 0.0296 0.0266 1 T 1.0 P Pathogenic 3_75790860_C->T 3 75790860 75790860 C T snp 565.77 0/1 99 250 209 41 0.16 exonic rs73117241 ZNF717 AU nonsynonymous SNV NM_001128223 exon3 c.G85A p.V29M 0.0149 0.0040 0.03 T 0.054 P -1.031 T 0.997 D 0.983 D Pathogenic 3_75790880_A->G 3 75790880 75790880 A G snp 722.77 0/1 99 249 206 43 0.17 exonic rs75138373 ZNF717 AU nonsynonymous SNV NM_001128223 exon3 c.T65C p.V22A 0.0231 0.0125 0.02 T 0.000 P -0.982 T 0.978 D 0.918 D Pathogenic 3_75790899_C->G 3 75790899 75790899 C G snp 763.77 0/1 99 248 203 45 0.18 intronic rs781604249 ZNF717 AU NM_001128223 exon3 c.4859+12C>G 0.0207 0.0208 0.31 T 0.000 P -0.943 T Uncertain 3_75790909_G->A 3 75790909 75790909 G A snp 697.77 0/1 99 250 202 48 0.19 intronic rs199770852 ZNF717 AU NM_001128223 exon3 c.4859+22G>A 0.0245 0.0312 Uncertain 3_75790912_G->A 3 75790912 75790912 G A snp 805.77 0/1 99 250 202 48 0.19 intronic rs200581032 ZNF717 AU NM_001128223 exon3 c.4859+25G>A 0.0254 0.0385 Uncertain 3_75790920_G->C 3 75790920 75790920 G C snp 554.77 0/1 99 250 214 36 0.14 intronic ZNF717 AU NM_001128223 exon3 c.4859+33G>C 0.14 T 1.000 N -0.960 T Uncertain 3_75790927_G->A 3 75790927 75790927 G A snp 584.77 0/1 99 250 207 43 0.17 intronic rs201353748 ZNF717 AU NM_001128223 exon3 c.4859+40G>A 0.0172 0.05 Uncertain 3_75790929_T->C 3 75790929 75790929 T C snp 2200.77 0/1 99 250 158 92 0.37 intronic rs115781515 ZNF717 AU NM_001128223 exon3 c.4859+42T>C 0.0206 0.0714 Uncertain 3_75790947_A->G 3 75790947 75790947 A G snp 2357.77 0/1 99 238 145 93 0.39 intronic rs202102720 ZNF717 AU NM_001128223 exon3 c.4859+60A>G 0.0077 0.0714 Uncertain 3_75790949_G->A 3 75790949 75790949 G A snp 893.77 0/1 99 236 191 45 0.19 intronic ZNF717 AU NM_001128223 exon3 c.4859+62G>A Uncertain 3_75790953_C->T 3 75790953 75790953 C T snp 596.77 0/1 99 236 192 44 0.19 intronic rs199865095 ZNF717 AU NM_001128223 exon3 c.4859+66C>T 0.0029 0.0417 Uncertain 3_75790959_C->G 3 75790959 75790959 C G snp 2316.77 0/1 99 229 137 92 0.4 intronic rs80027640 ZNF717 AU NM_001128223 exon3 c.4859+72C>G 0.0085 0.1 Uncertain 3_75790966_C->A 3 75790966 75790966 C A snp 1203.77 0/1 99 222 171 51 0.23 intronic rs77120981 ZNF717 AU NM_001128223 exon3 c.4859+79C>A Uncertain 3_75790972_C->T 3 75790972 75790972 C T snp 1514.77 0/1 99 215 150 65 0.3 intronic rs11710621 ZNF717 AU NM_001128223 exon3 c.4859+85C>T 0.491813 0.6885 0.3142 0.3108 Uncertain 3_75790981_G->A 3 75790981 75790981 G A snp 996.77 0/1 99 209 166 43 0.21 intronic rs73843032 ZNF717 AU NM_001128223 exon3 c.4859+94G>A Uncertain 3_75790989_C->G 3 75790989 75790989 C G snp 1277.77 0/1 99 202 151 51 0.25 intronic rs62246577 ZNF717 AU NM_001128223 exon3 c.4859+102C>G Uncertain 3_75790993_C->A 3 75790993 75790993 C A snp 626.77 0/1 99 197 157 40 0.2 intronic rs138093217 ZNF717 AU NM_001128223 exon3 c.4859+106C>A Uncertain 3_75791005_G->A 3 75791005 75791005 G A snp 596.77 0/1 99 183 147 36 0.2 intronic ZNF717 AU NM_001128223 exon3 c.4859+118G>A Uncertain 3_75791008_C->T 3 75791008 75791008 C T snp 567.77 0/1 99 180 145 35 0.19 intronic ZNF717 AU NM_001128223 exon3 c.4859+121C>T Uncertain 3_75791010_C->T 3 75791010 75791010 C T snp 555.77 0/1 99 176 141 35 0.2 intronic ZNF717 AU NM_001128223 exon3 c.4859+123C>T Uncertain 3_75791028_C->T 3 75791028 75791028 C T snp 625.77 0/1 99 141 111 30 0.21 intronic rs142582026 ZNF717 AU NM_001128223 exon3 c.4859+141C>T Uncertain 3_75791031_T->A 3 75791031 75791031 T A snp 1358.77 0/1 99 136 86 50 0.37 intronic rs79159691 ZNF717 AU NM_001128223 exon3 c.4859+144T>A Uncertain 3_75791065_T->G 3 75791065 75791065 T G snp 77.77 0/1 99 21 17 4 0.19 intronic ZNF717 AU NM_001128223 exon3 c.4859+178T>G Uncertain 3_75791066_T->G 3 75791066 75791066 T G snp 80.77 0/1 99 20 16 4 0.2 intronic rs115675102 ZNF717 AU NM_001128223 exon3 c.4859+179T>G Uncertain 3_75791086_G->T 3 75791086 75791086 G T snp 39.77 0/1 68 4 2 2 0.5 intronic rs142114137 ZNF717 AU NM_001128223 exon3 c.4859+199G>T Uncertain 3_75986622_C->G 3 75986622 75986622 C G snp 453.77 0/1 99 27 6 21 0.78 intergenic rs9631539 ZNF717 AU 0.5004 0.5009 Uncertain 3_75986663_C->A 3 75986663 75986663 C A snp 1630.77 0/1 99 88 18 70 0.8 intergenic rs12171318 ZNF717 AU 0.5000 0.5005 0.2 T -1.020 T Uncertain 3_75986686_A->G 3 75986686 75986686 A G snp 2517.77 0/1 99 149 31 118 0.79 intergenic rs62269817 ZNF717 AU 0.5000 0.5005 Uncertain 3_75986695_G->A 3 75986695 75986695 G A snp 302.77 0/1 99 172 143 29 0.17 intergenic rs79015247 ZNF717 AU 0.3901 0.4061 Uncertain 3_75986717_G->A 3 75986717 75986717 G A snp 439.77 0/1 99 228 187 41 0.18 intergenic rs78834776 ZNF717 AU 0.4201 0.3788 0.18 T 1.000 N -0.988 T Uncertain 3_75986719_G->C 3 75986719 75986719 G C snp 2889.77 0/1 99 233 61 172 0.74 intergenic rs62269818 ZNF717 AU 0.5002 0.5009 Uncertain 3_75986794_G->A 3 75986794 75986794 G A snp 2606.77 0/1 99 232 86 146 0.63 intergenic rs80235520 ZNF717 AU 0.5029 0.5056 Uncertain 3_75986813_T->A 3 75986813 75986813 T A snp 1790.77 0/1 99 203 87 116 0.57 intergenic rs77101234 ZNF717 AU Uncertain 3_75986833_C->T 3 75986833 75986833 C T snp 1241.77 0/1 99 157 76 81 0.52 intergenic rs73123284 ZNF717 AU Uncertain 3_75986858_T->C 3 75986858 75986858 T C snp 185.77 0/1 99 84 61 23 0.27 intergenic rs75670471 ZNF717 AU 0.000199681 Uncertain 3_75986863_C->G 3 75986863 75986863 C G snp 141.77 0/1 99 75 57 18 0.24 intergenic rs79216754 ZNF717 AU Uncertain 3_75986874_G->C 3 75986874 75986874 G C snp 1278.41 1/1 8 57 8 49 0.86 intergenic rs7610755 ZNF717 AU 0.984824 1 Uncertain 3_76484183_T->C 3 76484183 76484183 T C snp 1338.77 1/1 96 44 0 44 1.0 intergenic rs3849491 ZNF717 AU 0.438099 0.4286 Uncertain 3_77147007_G->A 3 77147007 77147007 G A snp 31.77 0/1 60 8 6 2 0.25 intronic rs9873816 ROBO2 AU NM_002942 exon2 c.57228-157G>A 0.396366 0.5675 Uncertain 3_77147039_C->A 3 77147039 77147039 C A snp 211.77 0/1 99 23 14 9 0.39 intronic rs9873691 ROBO2 AU NM_002942 exon2 c.57228-125C>A 0.320887 0.5675 Uncertain 3_77147112_G->A 3 77147112 77147112 G A snp 1399.77 0/1 99 110 46 64 0.58 intronic rs9874095 ROBO2 AU NM_002942 exon2 c.57228-52G>A 0.320687 0.5685 Uncertain 3_77607070_-->C 3 77607070 77607070 - C indel 1587.73 0/1 99 104 56 48 0.46 intronic rs397875244 ROBO2 AU NM_002942 exon9 c.517158-24insC 0.804712 0.8125 0.742259 0.7545 0.7947 Uncertain 3_77645947_T->- 3 77645947 77645947 T - indel 138.73 0/1 99 22 6 16 0.73 intronic rs35328861 ROBO2 AU NM_002942 exon19 c.555965+46delT 0.648163 0.7083 0.5461 0.5626 Uncertain 3_77645984_A->G 3 77645984 77645984 A G snp 108.77 0/1 54 11 5 6 0.55 intronic rs775718 ROBO2 AU NM_002942 exon19 c.555965+83A>G 0.60024 0.5655 Uncertain 3_77667044_G->A 3 77667044 77667044 G A snp 96.28 1/1 9 3 0 3 1.0 intronic rs1523768 ROBO2 AU NM_002942 exon22 c.576988+120G>A 0.805911 0.874 Uncertain 3_77681865_T->A 3 77681865 77681865 T A snp 149.77 0/1 99 11 6 5 0.45 intronic rs1451617 ROBO2 AU NM_001290040 exon25 c.591871+58T>A 0.794129 0.871 Uncertain 3_77694204_A->G 3 77694204 77694204 A G snp 226.77 0/1 99 13 5 8 0.62 intronic rs1721189 ROBO2 AU NM_002942 exon25 c.604119+149A>G 0.458666 0.4325 Uncertain 3_78663956_G->A 3 78663956 78663956 G A snp 1263.77 1/1 93 48 1 47 0.98 splicing rs1027832 ROBO1 AU NM_133631 exon4 c.15888+6G>A 0.353435 0.3284 0.350212 0.4516 0.3761 Pathogenic 3_78664093_C->T 3 78664093 78664093 C T snp 267.8 1/1 21 8 0 8 1.0 intronic rs1027833 ROBO1 AU NM_133631 exon4 c.15888+143C>T 0.446086 0.3571 Uncertain 3_78666765_T->C 3 78666765 78666765 T C snp 1791.77 1/1 99 57 0 57 1.0 intronic rs9839790 ROBO1 AU NM_133631 exon5 c.18722-19T>C 0.575479 0.5784 0.619524 0.6225 0.5371 Uncertain 3_78676422_G->A 3 78676422 78676422 G A snp 1406.77 1/1 99 49 0 49 1.0 intronic rs7614084 ROBO1 AU NM_133631 exon6 c.28408-48G>A 0.33726 0.2629 0.364761 0.3869 0.2575 Uncertain 3_78676467_A->G 3 78676467 78676467 A G snp 2342.77 1/1 99 85 0 85 1.0 splicing rs7636043 ROBO1 AU NM_133631 exon6 c.28408-3A>G 0.969848 0.9861 0.973458 0.9648 0.9919 Pathogenic 3_78680578_T->C 3 78680578 78680578 T C snp 347.78 1/1 27 11 0 11 1.0 intronic rs6548592 ROBO1 AU NM_133631 exon7 c.32393+123T>C 0.46885 0.3065 Uncertain 3_78700779_C->A 3 78700779 78700779 C A snp 143.03 1/1 12 5 0 5 1.0 intronic rs3925684 ROBO1 AU NM_133631 exon12 c.52819-102C>A 0.970048 1 Uncertain 3_78711350_T->C 3 78711350 78711350 T C snp 810.77 1/1 60 29 0 29 1.0 intronic rs9864412 ROBO1 AU NM_133631 exon16 c.63202+86T>C 0.335264 0.2262 Uncertain 3_78711395_A->- 3 78711395 78711395 A - indel 108.37 1/1 8 12 1 11 0.92 intronic rs11359455 ROBO1 AU NM_133631 exon16 c.63202+131delA 0.561701 0.6696 Uncertain 3_78717508_G->A 3 78717508 78717508 G A snp 1796.77 1/1 99 49 0 49 1.0 intronic rs2255164 ROBO1 AU NM_133631 exon18 c.69390+56G>A 0.381589 0.2252 Uncertain 3_78737962_G->A 3 78737962 78737962 G A snp 2412.77 1/1 99 83 0 83 1.0 intronic rs967454 ROBO1 AU NM_133631 exon22 c.89860+40G>A 0.29393 0.2282 0.380158 0.4638 0.2516 Uncertain 3_78796078_C->A 3 78796078 78796078 C A snp 577.77 0/1 99 64 38 26 0.41 intronic rs2304503 ROBO1 AU NM_133631 exon27 c.147988+28C>A 0.419728 0.25 0.468409 0.5102 0.2437 Uncertain 3_79557155_C->T 3 79557155 79557155 C T snp 113.77 0/1 99 9 5 4 0.44 intronic rs62257610 ROBO1 AU NM_002941 exon30 c.990911-81818C>T 0.104633 0.1875 0.0820 0.2826 Uncertain 3_81548209_-->AAG 3 81548209 81548209 - AAG indel 784.73 0/1 99 34 18 16 0.47 intronic rs34988523 GBE1 AR NM_000158 exon2 c.8703-51insAAG 0.312101 0.4117 Uncertain 3_81584269_T->- 3 81584269 81584269 T - indel 285.73 0/1 99 39 18 21 0.54 intronic rs397990323 GBE1 AR NM_000158 exon3 c.44786-74delT 0.718051 0.873 Uncertain 3_81630214_G->A 3 81630214 81630214 G A snp 177.77 0/1 99 17 10 7 0.41 intronic rs9870056 GBE1 AR NM_000158 exon6 c.90758-101G>A 0.109026 0.0625 Uncertain 3_81643167_T->C 3 81643167 81643167 T C snp 4333.77 1/1 99 155 0 155 1.0 exonic rs2172397 GBE1 AR nonsynonymous SNV NM_000158 exon8 c.A1000G p.I334V 0.983626 0.999 0.979269 0.9728 0.9997 1 T 0.001 P -0.923 T 0.0 T 0.001 T Pathogenic 3_81720221_T->C 3 81720221 81720221 T C snp 148.77 0/1 99 10 5 5 0.5 intronic rs9863136 GBE1 AR NM_000158 exon14 c.180547+117T>C 0.10004 0.0694 Uncertain 3_81792592_T->C 3 81792592 81792592 T C snp 597.77 0/1 99 48 25 23 0.48 intronic rs3772889 GBE1 AR NM_000158 exon16 c.270968-17933T>C 0.694888 0.9256 Uncertain 3_81810516_C->A 3 81810516 81810516 C A snp 968.77 0/1 99 109 65 44 0.4 intronic rs9820490 GBE1 AR NM_000158 exon16 c.270968-9C>A 0.0878594 0.0694 0.130228 0.1268 0.0740 Uncertain 3_81810702_-->G 3 81810702 81810702 - G indel 1833.73 1/1 99 50 0 50 1.0 UTR5 rs11391701 GBE1 AR 0.996805 1 0.999820 0.9998 0.9998 Uncertain 3_81810770_G->A 3 81810770 81810770 G A snp 306.77 0/1 99 18 6 12 0.67 UTR5 rs78982329 GBE1 AR 0.0888578 0.0694 0.1397 0.1404 Uncertain 3_86028361_A->C 3 86028361 86028361 A C snp 2924.77 0/1 99 250 129 121 0.48 exonic rs754722306 CADM2 AU nonsynonymous SNV NM_001167674 exon8 c.A991C p.T331P 2.473e-05 0.0003 0.12 T 0.908 D -0.657 T 0.95 T 0.55 D Pathogenic 3_87039720_G->C 3 87039720 87039720 G C snp 230.77 0/1 99 14 6 8 0.57 intronic rs79619293 VGLL3 AU NM_016206 exon4 c.43594-47G>C 0.107029 0.1032 0.080635 0.0405 0.1315 Uncertain 3_87039755_T->G 3 87039755 87039755 T G snp 491.77 0/1 99 31 13 18 0.58 intronic rs77950373 VGLL3 AU NM_016206 exon4 c.43594-12T>G 0.107228 0.1042 0.081564 0.0434 0.1354 Uncertain 3_87100160_T->C 3 87100160 87100160 T C snp 300.78 1/1 24 9 0 9 1.0 intergenic rs4858947 VGLL3 AU 0.945487 0.998 Uncertain 3_87100309_T->C 3 87100309 87100309 T C snp 3093.77 0/1 99 250 114 136 0.54 intergenic rs2575753 VGLL3 AU 0.671526 0.6766 Uncertain 3_87100434_G->A 3 87100434 87100434 G A snp 1786.77 0/1 99 164 91 73 0.45 intergenic rs7619398 VGLL3 AU 0.671526 0.6766 Uncertain 3_87100447_G->A 3 87100447 87100447 G A snp 1672.77 0/1 99 128 55 73 0.57 intergenic rs9831869 VGLL3 AU 0.270168 0.3224 Uncertain 3_87100893_G->A 3 87100893 87100893 G A snp 1056.77 0/1 99 79 37 42 0.53 intergenic rs2256481 VGLL3 AU 0.703874 0.6766 Uncertain 3_87100952_G->- 3 87100952 87100952 G - indel 404.73 0/1 99 36 21 15 0.42 intergenic rs34075162 VGLL3 AU 0.237021 0.3224 Uncertain 3_87100988_T->C 3 87100988 87100988 T C snp 228.77 0/1 99 12 5 7 0.58 intergenic rs2256479 VGLL3 AU 0.671526 0.6766 Uncertain 3_87276699_C->T 3 87276699 87276699 C T snp 2246.77 0/1 99 239 136 103 0.43 exonic rs2279720 CHMP2B AD synonymous SNV NM_014043 exon1 c.C27T p.T9T 0.107228 0.1875 0.093495 0.0935 0.2085 CLINSIG=untested;CLNDBN=not_provided;CLNREVSTAT=no_assertion_provided;CLNACC=RCV000084270.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Uncertain 3_87295049_T->C 3 87295049 87295049 T C snp 505.77 0/1 99 32 12 20 0.63 exonic rs11540913 CHMP2B AD synonymous SNV NM_014043 exon3 c.T312C p.T104T 0.815695 0.9127 0.820314 0.9060 0.8974 CLINSIG=untested;CLNDBN=not_provided;CLNREVSTAT=no_assertion_provided;CLNACC=RCV000084272.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Uncertain 3_87299075_A->C 3 87299075 87299075 A C snp 377.77 0/1 99 33 17 16 0.48 exonic rs1044499 CHMP2B AD synonymous SNV NM_014043 exon4 c.A372C p.T124T 0.105831 0.1875 0.092225 0.0934 0.2080 CLINSIG=untested;CLNDBN=not_provided;CLNREVSTAT=no_assertion_provided;CLNACC=RCV000084273.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Uncertain 3_88188420_G->A 3 88188420 88188420 G A snp 1858.77 1/1 99 54 0 54 1.0 UTR5 rs9813894 ZNF654 AU 0.783347 0.8363 0.785429 0.8381 0.8491 Uncertain 3_88189341_T->C 3 88189341 88189341 T C snp 5426.77 1/1 99 201 0 201 1.0 exonic rs7653652 ZNF654 AU nonsynonymous SNV NM_018293 exon1 c.T881C p.I294T 0.783147 0.8363 0.786751 0.8426 0.8473 0.42 T 0.020 P -0.966 T 0.039 T 0.016 T Pathogenic 3_88190768_C->A 3 88190768 88190768 C A snp 3470.77 1/1 99 135 0 135 1.0 intronic rs7432826 CGGBP1 AU NM_001195308 exon3 c.85606+540C>A 0.960463 0.9752 0.919264 0.9061 0.9494 Uncertain 3_88190809_C->T 3 88190809 88190809 C T snp 3048.77 1/1 99 121 0 121 1.0 UTR3 rs7432838 ZNF654 AU 0.881589 0.9325 0.848644 0.8486 0.9168 Uncertain 3_88199179_T->C 3 88199179 88199179 T C snp 7092.77 1/1 99 250 0 250 1.0 UTR5 rs6551277 C3orf38 AU 0.791334 0.8353 0.783177 0.8443 0.8466 Uncertain 3_88199185_-->C 3 88199185 88199185 - C indel 7906.73 1/1 99 250 0 250 1.0 UTR5 rs11374933 C3orf38 AU 0.726481 0.8218 0.8402 Uncertain 3_88199298_T->C 3 88199298 88199298 T C snp 6997.77 1/1 99 242 0 242 1.0 exonic rs6551278 C3orf38 AU synonymous SNV NM_173824 exon1 c.T96C p.T32T 0.783347 0.8363 0.773874 0.8413 0.8474 Uncertain 3_89456555_T->A 3 89456555 89456555 T A snp 1993.77 0/1 99 181 93 88 0.49 intronic rs3792572 EPHA3 AU NM_005233 exon8 c.299623+34T>A 0.404952 0.251 0.471936 0.3951 0.2473 Uncertain 3_89480265_A->G 3 89480265 89480265 A G snp 1349.77 0/1 99 116 57 59 0.51 intronic rs12639506 EPHA3 AU NM_005233 exon13 c.323401-34A>G 0.135184 0.1181 0.183559 0.2075 0.1274 Uncertain 3_89498619_A->G 3 89498619 89498619 A G snp 189.77 0/1 99 11 5 6 0.55 intronic rs1028011 EPHA3 AU NM_005233 exon14 c.341626+95A>G 0.889776 0.7718 Uncertain 3_89521509_C->A 3 89521509 89521509 C A snp 382.77 0/1 99 39 24 15 0.38 intronic rs73139110 EPHA3 AU NM_005233 exon16 c.364715-104C>A 0.129593 0.0813 Uncertain 3_89521602_-->C 3 89521602 89521602 - C indel 2740.73 0/1 99 132 62 70 0.53 intronic rs112297761 EPHA3 AU NM_005233 exon16 c.364715-11insC 0.161542 0.0813 0.228717 0.2114 0.0805 Uncertain 3_89521693_T->C 3 89521693 89521693 T C snp 2046.77 0/1 99 154 70 84 0.55 exonic rs35124509 EPHA3 AU nonsynonymous SNV NM_005233 exon16 c.T2770C p.W924R 0.391174 0.2163 0.468322 0.3759 0.2046 1.000 P -0.915 T 0.0 T 0.0 T Pathogenic 3_89521725_T->C 3 89521725 89521725 T C snp 1519.77 0/1 99 133 65 68 0.51 exonic rs1054750 EPHA3 AU synonymous SNV NM_005233 exon16 c.T2802C p.G934G 0.129593 0.0813 0.186837 0.1998 0.0805 Uncertain 3_89521838_T->A 3 89521838 89521838 T A snp 128.77 0/1 99 23 16 7 0.3 intronic EPHA3 AU NM_005233 exon16 c.364871+69T>A Uncertain 3_89521840_T->A 3 89521840 89521840 T A snp 128.77 0/1 99 23 17 6 0.26 intronic EPHA3 AU NM_005233 exon16 c.364871+71T>A Uncertain 3_89521841_G->T 3 89521841 89521841 G T snp 128.77 0/1 99 23 17 6 0.26 intronic EPHA3 AU NM_005233 exon16 c.364871+72G>T Uncertain 3_89521900_G->T 3 89521900 89521900 G T snp 43.77 0/1 72 5 2 3 0.6 intronic rs73139115 EPHA3 AU NM_005233 exon16 c.364871+131G>T 0.129593 0.0813 Uncertain 3_89528461_A->T 3 89528461 89528461 A T snp 437.77 0/1 99 42 22 20 0.48 intronic rs12631313 EPHA3 AU NM_005233 exon17 c.371648-85A>T 0.165136 0.0813 Uncertain 3_89528477_G->A 3 89528477 89528477 G A snp 562.77 0/1 99 53 28 25 0.47 intronic rs12636710 EPHA3 AU NM_005233 exon17 c.371648-69G>A 0.132188 0.0813 Uncertain 3_90264768_A->G 3 90264768 90264768 A G snp 647.77 0/1 99 76 47 29 0.38 intergenic rs6803112 EPHA3 AU 0.903155 0.9008 Uncertain 3_90276511_G->A 3 90276511 90276511 G A snp 869.77 0/1 99 69 33 36 0.52 intergenic rs9815264 EPHA3 AU 0.589457 0.7629 Uncertain 3_90276661_G->A 3 90276661 90276661 G A snp 619.77 0/1 99 50 26 24 0.48 intergenic rs9815542 EPHA3 AU 0.589457 0.7629 Uncertain 3_93593119_T->C 3 93593119 93593119 T C snp 1388.77 0/1 99 141 79 62 0.44 exonic rs6123 PROS1 AR,AD synonymous SNV NM_000313 exon15 c.A2001G p.P667P 0.385184 0.5675 0.321159 0.4268 0.5724 ID=CM994426;DIS=Reduced plasma Protein S;TAG=FP;PUB=10494768 FP Uncertain 3_93647695_C->T 3 93647695 93647695 C T snp 77.77 0/1 99 9 5 4 0.44 intronic rs139725087 PROS1 AR,AD NM_000313 exon14 c.53163+1444C>T 0.000599042 Uncertain 3_93779822_G->A 3 93779822 93779822 G A snp 1460.77 0/1 99 133 66 67 0.5 exonic rs559246351 DHFRL1 AU synonymous SNV NM_001195643 exon2 c.C534T p.Y178Y 2.475e-05 0.0003 Uncertain 3_94225786_G->T 3 94225786 94225786 G T snp 483.77 0/1 99 56 33 23 0.41 intergenic rs1906643 NSUN3 AU 0.497404 0.4563 Uncertain 3_97194422_T->G 3 97194422 97194422 T G snp 684.77 1/1 51 20 0 20 1.0 intronic rs7624823 EPHA6 AU NM_001278300 exon5 c.26736+118T>G 0.997204 1 Uncertain 3_97365038_G->A 3 97365038 97365038 G A snp 730.77 0/1 99 75 40 35 0.47 intronic rs301948 EPHA6 AU NM_001278300 exon12 c.197394+76G>A 0.646366 0.6964 0.6167 0.6804 0 D 0.0 P -0.958 T 0.001 T 0.001 T Uncertain 3_97365074_A->G 3 97365074 97365074 A G snp 785.77 0/1 99 80 43 37 0.46 intronic rs301949 EPHA6 AU NM_001278300 exon12 c.197586-80A>G 0.660543 0.6974 0.6254 0.6888 0 D 0.0 P -0.957 T 0.0 T 0.0 T Uncertain 3_97367230_-->A 3 97367230 97367230 - A indel 1634.73 0/1 99 79 36 43 0.54 intronic rs3214668 EPHA6 AU NM_001278300 exon13 c.199561+101insA 0.662939 0.6994 0.620909 Uncertain 3_97466432_T->G 3 97466432 97466432 T G snp 919.77 0/1 99 75 42 33 0.44 intronic rs79617067 EPHA6 AU NM_001080448 exon17 c.932949+16T>G 0.217252 0.3681 0.193153 0.2581 0.4100 Uncertain 3_97467362_TCTC->- 3 97467362 97467365 TCTC - indel 1732.73 0/1 99 50 19 31 0.62 intronic rs138837886 EPHA6 AU NM_001080448 exon18 c.933963-68_933963-65delTCTC 0.472045 0.7242 Uncertain 3_97487239_C->T 3 97487239 97487239 C T snp 48.74 1/1 6 2 0 2 1.0 intronic rs1567058 ARL6 AU,AO,AR NM_032146 exon3 c.123+165C>T 0.791534 0.8542 Uncertain 3_97499654_T->A 3 97499654 97499654 T A snp 43.77 0/1 66 4 2 2 0.5 intronic rs10935082 ARL6 AU,AO,AR NM_032146 exon5 c.12576+127T>A 0.805511 0.8562 Uncertain 3_97541018_C->T 3 97541018 97541018 C T snp 242.77 0/1 99 16 5 11 0.69 UTR5 rs974572 CRYBG3 AU 0.460463 0.6766 0.5681 0.7222 Uncertain 3_97605677_A->G 3 97605677 97605677 A G snp 673.77 0/1 99 39 12 27 0.69 intronic rs831902 CRYBG3 AU NM_153605 exon8 c.64561+66A>G 0.482628 0.6925 Uncertain 3_97611916_A->C 3 97611916 97611916 A C snp 273.77 0/1 99 26 12 14 0.54 intronic rs1506441 CRYBG3 AU NM_153605 exon11 c.70787+79A>C 0.474441 0.6776 Uncertain 3_97619250_-->AACTA 3 97619250 97619250 - AACTA indel 1614.73 0/1 99 48 26 22 0.46 intronic rs5851085 CRYBG3 AU NM_153605 exon15 c.78246-46insAACTA 0.481829 0.6944 0.425121 0.5031 0.7003 Uncertain 3_97634253_C->T 3 97634253 97634253 C T snp 324.77 0/1 99 15 5 10 0.67 intronic rs831877 CRYBG3 AU NM_153605 exon17 c.93403-200C>T 0.710663 0.8571 Uncertain 3_97651884_A->C 3 97651884 97651884 A C snp 602.77 0/1 99 58 36 22 0.38 intronic rs4857298 CRYBG3 AU NM_153605 exon18 c.111487-653A>C 0.479433 0.6776 Uncertain 3_97660106_A->C 3 97660106 97660106 A C snp 690.77 0/1 99 57 27 30 0.53 exonic rs4857302 CRYBG3 AU nonsynonymous SNV NM_153605 exon20 c.A8620C p.N2874H 0.48143 0.6875 0.444463 0.5083 0.6960 0.03 T 0.0 P -1.002 T 0.963 D 0.671 D Pathogenic 3_97660198_A->G 3 97660198 97660198 A G snp 342.77 0/1 99 23 9 14 0.61 intronic rs832089 CRYBG3 AU NM_153605 exon20 c.119100+48A>G 0.768371 0.8581 0.767247 0.8038 0.8666 Uncertain 3_97664725_C->T 3 97664725 97664725 C T snp 3107.77 0/1 99 250 120 130 0.52 exonic rs2172257 MINA AU nonsynonymous SNV NM_001042533 exon9 c.G1156A p.A386T 0.478035 0.6746 0.439019 0.5041 0.6818 0.65 T 0.000 P -1.027 T 0.004 T 0.01 T Pathogenic 3_97666184_CTC->- 3 97666184 97666186 CTC - indel 2861.73 0/1 99 111 53 58 0.52 intronic rs2307808 MINA AU NM_153182 exon3 c.2177-20_2177-18delCTC 0.289137 0.1429 0.301150 0.2146 0.1340 Uncertain 3_97673268_A->C 3 97673268 97673268 A C snp 2170.77 1/1 99 81 1 80 0.99 exonic rs832079 MINA AU synonymous SNV NM_001042533 exon5 c.T753G p.S251S 0.993011 0.9831 0.998078 0.9972 0.9753 Uncertain 3_97686575_T->C 3 97686575 97686575 T C snp 173.77 0/1 99 16 10 6 0.38 intronic rs699304 MINA AU NM_153182 exon9 c.22449+99T>C 0.246805 0.1508 Uncertain 3_97726747_T->A 3 97726747 97726747 T A snp 2356.77 1/1 99 74 0 74 1.0 exonic rs832032 GABRR3 AU unknown 0.827276 0.9861 0.781928 0.8158 0.9913 Uncertain 3_97727727_G->C 3 97727727 97727727 G C snp 2297.77 1/1 99 69 0 69 1.0 intronic rs832030 GABRR3 AU NM_001105580 exon5 c.22273-72G>C 0.78155 0.9861 Uncertain 3_97727753_G->A 3 97727753 97727753 G A snp 3185.74 1/1 99 109 0 109 1.0 intronic rs832029 GABRR3 AU NM_001105580 exon5 c.22273-46G>A 0.781749 0.9861 0.740462 0.7962 0.9914 Uncertain 3_97731434_-->A 3 97731434 97731434 - A indel 243.73 0/1 99 33 14 19 0.58 intronic rs11426005 GABRR3 AU NM_001105580 exon6 c.25885+23insA 0.518371 0.5774 0.5025 0.5702 Uncertain 3_97744611_A->G 3 97744611 97744611 A G snp 174.77 0/1 99 12 5 7 0.58 intronic rs832041 GABRR3 AU NM_001105580 exon8 c.38997+88A>G 0.294928 0.4375 Uncertain 3_97753931_T->C 3 97753931 97753931 T C snp 707.77 0/1 99 40 17 23 0.57 intronic rs832070 GABRR3 AU NM_001105580 exon9 c.48307+98T>C 0.488419 0.5188 Uncertain 3_97805884_T->C 3 97805884 97805884 T C snp 46.79 0/1 23 3 1 2 0.67 upstream rs61357644 OR5AC2 AU 0.526558 0.37 Uncertain 3_97805954_T->C 3 97805954 97805954 T C snp 946.77 1/1 69 30 0 30 1.0 upstream rs13082722 OR5AC2 AU 0.599641 0.4504 Uncertain 3_97805958_G->A 3 97805958 97805958 G A snp 486.77 0/1 99 35 17 18 0.51 upstream rs77803081 OR5AC2 AU 0.0573083 0.0823 Uncertain 3_97806175_C->A 3 97806175 97806175 C A snp 2176.77 0/1 99 228 135 93 0.41 exonic rs76549762 OR5AC2 AU nonsynonymous SNV NM_054106 exon1 c.C159A p.N53K 0.0571086 0.0823 0.036983 0.0337 0.0926 0.27 T 1 N -0.903 T 0.0 T 0.0 T Pathogenic 3_97806616_G->A 3 97806616 97806616 G A snp 4349.77 1/1 99 138 0 138 1.0 exonic rs4518168 OR5AC2 AU nonsynonymous SNV NM_054106 exon1 c.G600A p.M200I 0.523363 0.4454 0.516456 0.5099 0.4600 0.18 T 0.0 P -0.913 T 0.0 T 0.01 T Pathogenic 3_97806999_T->C 3 97806999 97806999 T C snp 1817.77 1/1 99 60 0 60 1.0 downstream rs6439602 OR5AC2 AU 0.820687 0.8502 Uncertain 3_97851998_A->C 3 97851998 97851998 A C snp 128.77 0/1 99 10 4 6 0.6 exonic rs9845327 OR5H1 AU nonsynonymous SNV NM_001005338 exon1 c.A457C p.I153L 0.631789 0.5228 0.557099 0.5589 0.5230 0.46 T 0.0 P -0.929 T 0.0 T 0.004 T Pathogenic 3_97852083_C->T 3 97852083 97852083 C T snp 496.77 0/1 99 49 26 23 0.47 exonic rs9826076 OR5H1 AU nonsynonymous SNV NM_001005338 exon1 c.C542T p.T181I 0.623602 0.5228 0.5562 0.5184 1 T 0.0 P -0.968 T 0.0 T 0.0 T Pathogenic 3_97852229_T->A 3 97852229 97852229 T A snp 1311.77 0/1 99 144 85 59 0.41 exonic rs9849637 OR5H1 AU nonsynonymous SNV NM_001005338 exon1 c.T688A p.S230T 0.236222 0.131 0.243387 0.1744 0.1241 0.02 T 0.000 P -0.998 T 1.0 D 0.999 D Pathogenic 3_97868419_G->A 3 97868419 97868419 G A snp 2525.77 0/1 99 249 148 101 0.41 exonic rs4241468 OR5H14 AU nonsynonymous SNV NM_001005514 exon1 c.G190A p.G64R 0.57528 0.5228 0.585038 0.5551 0.5397 0.04 T 0.0 P -1.058 T 0.983 D 0.933 D Pathogenic 3_97868616_C->T 3 97868616 97868616 C T snp 578.77 0/1 99 46 25 21 0.46 exonic rs4379004 OR5H14 AU synonymous SNV NM_001005514 exon1 c.C387T p.P129P 0.631989 0.5238 0.572057 0.5678 0.5352 Uncertain 3_97868795_A->G 3 97868795 97868795 A G snp 729.77 0/1 99 56 29 27 0.48 exonic rs4857076 OR5H14 AU nonsynonymous SNV NM_001005514 exon1 c.A566G p.Y189C 0.631589 0.5228 0.632446 0.5720 0.5401 1 T 0.059 P -0.891 T 0.0 T 0.0 T Pathogenic 3_97868970_T->A 3 97868970 97868970 T A snp 269.77 0/1 99 26 17 9 0.35 exonic rs12639519 OR5H14 AU synonymous SNV NM_001005514 exon1 c.T741A p.S247S 0.586462 0.5198 0.5143 0.4998 Uncertain 3_97887865_G->A 3 97887865 97887865 G A snp 2845.77 0/1 99 248 125 123 0.5 exonic rs4133320 OR5H15 AU nonsynonymous SNV NM_001005515 exon1 c.G322A p.V108I 0.591054 0.5079 0.592524 0.5584 0.5165 0.59 T 0.0 P -1.097 T 0.007 T 0.003 T Pathogenic 3_97887985_T->A 3 97887985 97887985 T A snp 884.77 0/1 99 62 33 29 0.47 exonic rs4133321 OR5H15 AU nonsynonymous SNV NM_001005515 exon1 c.T442A p.S148T 0.566693 0.5079 0.566538 0.5528 0.5159 0.25 T 0.0 P -0.956 T 0.156 T 0.1 T Pathogenic 3_97888042_A->T 3 97888042 97888042 A T snp 344.77 0/1 99 20 8 12 0.6 exonic rs4133322 OR5H15 AU nonsynonymous SNV NM_001005515 exon1 c.A499T p.T167S 0.566693 0.5079 0.565234 0.5523 0.5153 1 T 0.0 P -1.072 T 0.688 T 0.491 P Pathogenic 3_97888197_C->T 3 97888197 97888197 C T snp 1013.77 0/1 99 129 77 52 0.4 exonic rs7623031 OR5H15 AU synonymous SNV NM_001005515 exon1 c.C654T p.Y218Y 0.626597 0.5079 0.630478 0.5702 0.5148 Uncertain 3_97888337_C->T 3 97888337 97888337 C T snp 455.77 0/1 99 48 27 21 0.44 exonic rs13082608 OR5H15 AU nonsynonymous SNV NM_001005515 exon1 c.C794T p.P265L 0.312101 0.4782 0.199908 0.2524 0.4874 0.14 T 0.0 P -1.130 T 0.026 T 0.009 T Pathogenic 3_97983040_C->T 3 97983040 97983040 C T snp 891.77 0/1 99 70 35 35 0.5 upstream rs4241470 OR5H6 AU 0.34345 0.4891 Uncertain 3_97983117_A->G 3 97983117 97983117 A G snp 1945.77 0/1 99 202 117 85 0.42 upstream rs4241471 OR5H6 AU 0.299321 0.4891 0.192095 0.2132 0.5231 Uncertain 3_97983257_C->G 3 97983257 97983257 C G snp 2667.77 0/1 99 250 134 116 0.46 exonic rs2132894 OR5H6 AU synonymous SNV NM_001005479 exon1 c.C129G p.L43L 0.708866 0.621 0.740926 0.6810 0.6345 Uncertain 3_97983265_C->A 3 97983265 97983265 C A snp 2788.77 0/1 99 250 132 118 0.47 exonic rs4241472 OR5H6 AU nonsynonymous SNV NM_001005479 exon1 c.C137A p.A46E 0.177316 0.4653 0.067979 0.1426 0.4961 0 D 0.0 P -0.989 T 0.729 T 0.391 P Pathogenic 3_97983374_A->G 3 97983374 97983374 A G snp 3128.77 0/1 99 250 133 117 0.47 exonic rs4857358 OR5H6 AU synonymous SNV NM_001005479 exon1 c.A246G p.L82L 0.293331 0.4891 0.184992 0.2075 0.5228 Uncertain 3_97983391_C->G 3 97983391 97983391 C G snp 3355.77 0/1 99 250 124 126 0.5 exonic rs2173236 OR5H6 AU nonsynonymous SNV NM_001005479 exon1 c.C263G p.S88W 0.301917 0.4891 0.2109 0.5231 0.22 T 0.0 P -1.036 T 0.0 T 0.001 T Pathogenic 3_97983561_G->C 3 97983561 97983561 G C snp 3518.77 0/1 99 250 117 133 0.53 exonic rs9289564 OR5H6 AU nonsynonymous SNV NM_001005479 exon1 c.G433C p.A145P 0.704673 0.621 0.738886 0.6810 0.6404 1 T 0.000 P -0.969 T 0.0 T 0.0 T Pathogenic 3_97983711_T->C 3 97983711 97983711 T C snp 1817.77 0/1 99 140 67 73 0.52 exonic rs9853887 OR5H6 AU nonsynonymous SNV NM_001005479 exon1 c.T583C p.C195R 0.625 0.621 0.662665 0.6560 0.6329 0 D 1.000 P -0.900 T 0.999 D 0.991 D ID=CM035854;DIS=Olfactory receptor deficiency;TAG=FP;PUB=12730696 FP Pathogenic 3_97983942_A->G 3 97983942 97983942 A G snp 397.77 0/1 99 36 23 13 0.36 exonic rs9853906 OR5H6 AU nonsynonymous SNV NM_001005479 exon1 c.A814G p.T272A 0.663339 0.621 0.690557 0.6657 0.6343 0.3 T 0.0 P -0.991 T 0.0 T 0.0 T Pathogenic 3_98002587_A->G 3 98002587 98002587 A G snp 1308.77 0/1 99 105 52 53 0.5 exonic rs16839611 OR5H2 AU nonsynonymous SNV NM_001005482 exon1 c.A856G p.I286V 0.508586 0.75 0.368368 0.3730 0.7842 1 T 0.0 P -0.903 T 0.883 T 0.644 P Pathogenic 3_98073313_A->G 3 98073313 98073313 A G snp 2569.77 0/1 99 181 75 106 0.59 exonic rs9822460 OR5K4 AU nonsynonymous SNV NM_001005517 exon1 c.A616G p.I206V 0.233227 0.1726 0.227280 0.2117 0.1456 1 T 0.000 P -1.097 T 0.018 T 0.06 T Pathogenic 3_98109489_C->T 3 98109489 98109489 C T snp 821.77 0/1 99 61 28 33 0.54 upstream rs13069360 OR5K3 AU 0.237021 0.2579 0.213056 0.1966 0.2307 Uncertain 3_98109640_G->A 3 98109640 98109640 G A snp 2389.77 0/1 99 232 129 103 0.44 exonic rs13068323 OR5K3 AU nonsynonymous SNV NM_001005516 exon1 c.G131A p.G44D 0.164736 0.2222 0.142780 0.1490 0.1960 0 D 0.000 P -1.124 T 0.982 D 0.931 D Pathogenic 3_98188250_T->G 3 98188250 98188250 T G snp 213.77 0/1 99 18 11 7 0.39 upstream rs56336891 OR5K1 AU 0.0920527 0.1498 Uncertain 3_98225441_A->C 3 98225441 98225441 A C snp 267.8 1/1 21 7 0 7 1.0 intergenic rs1132750 OR5K2 AU 0.69349 0.7589 Uncertain 3_98241847_G->C 3 98241847 98241847 G C snp 752.77 0/1 99 47 20 27 0.57 UTR5 rs6807441 CLDND1 AU 0.139776 0.3343 Uncertain 3_98250862_C->A 3 98250862 98250862 C A snp 946.77 0/1 99 83 36 47 0.57 UTR5 rs3749260 GPR15 AU 0.120607 0.1438 0.097878 0.1247 0.1245 Uncertain 3_98250986_C->T 3 98250986 98250986 C T snp 1352.77 0/1 99 96 43 53 0.55 exonic rs2230344 GPR15 AU nonsynonymous SNV NM_005290 exon1 c.C109T p.P37S 0.188099 0.3571 0.117484 0.1909 0.3837 0.01 T 0.999 P -0.962 T 0.213 T 0.091 T Pathogenic 3_98252027_G->A 3 98252027 98252027 G A snp 533.77 1/1 42 14 0 14 1.0 downstream rs1529047 GPR15 AU 0.52476 0.7768 Uncertain 3_98281078_C->T 3 98281078 98281078 C T snp 41.77 0/1 70 4 2 2 0.5 intergenic rs6797035 GPR15 AU 0.469649 0.4563 Uncertain 3_98281349_G->T 3 98281349 98281349 G T snp 1138.77 0/1 99 120 68 52 0.43 intergenic rs9850648 GPR15 AU 0.470248 0.4573 Uncertain 3_98304467_T->C 3 98304467 98304467 T C snp 951.77 0/1 99 88 47 41 0.47 exonic rs1729995 CPOX AD synonymous SNV NM_000097 exon5 c.A990G p.E330E 0.753994 0.7321 0.743887 0.7065 0.7608 Uncertain 3_98307630_C->T 3 98307630 98307630 C T snp 2130.77 0/1 99 230 128 102 0.44 exonic rs2228056 CPOX AD nonsynonymous SNV NM_000097 exon4 c.G880A p.V294I 0.0996406 0.1101 0.070890 0.1045 0.0796 0.79 T 0.966 P -0.687 T 0.003 T 0.007 T Pathogenic 3_98487122_AGTG->- 3 98487122 98487125 AGTG - indel 938.73 0/1 99 46 29 17 0.37 intronic rs3217579 ST3GAL6 AU NM_001271145 exon2 c.35566-151_35566-148delAGTG 0.373403 0.38 Uncertain 3_98489686_A->G 3 98489686 98489686 A G snp 1543.77 0/1 99 158 88 70 0.44 intronic rs1440153 ST3GAL6 AU NM_006100 exon4 c.2438-36A>G 0.34365 0.248 0.417115 0.3882 0.2446 Uncertain 3_98489915_C->G 3 98489915 98489915 C G snp 1320.77 0/1 99 74 24 50 0.68 intronic rs1440152 ST3GAL6 AU NM_006100 exon4 c.2516+115C>G 0.337859 0.2073 0.4425 0.2574 Uncertain 3_98490141_A->T 3 98490141 98490141 A T snp 697.77 1/1 51 22 0 22 1.0 intronic rs844160 ST3GAL6 AU NM_006100 exon4 c.2516+341A>T 0.617812 0.8006 Uncertain 3_98503683_C->T 3 98503683 98503683 C T snp 3261.77 1/1 99 120 0 120 1.0 intronic rs704585 ST3GAL6 AU NM_001271142 exon7 c.12041-105C>T 0.603834 0.7768 Uncertain 3_98518160_-->A 3 98518160 98518160 - A indel 475.73 0/1 42 25 4 21 0.84 UTR3 rs397732523 DCBLD2 AU Uncertain 3_98531446_T->C 3 98531446 98531446 T C snp 174.9 1/1 15 5 0 5 1.0 intronic rs278378 DCBLD2 AU NM_080927 exon7 c.13111+120T>C 0.96266 1 Uncertain 3_98540982_A->G 3 98540982 98540982 A G snp 694.77 1/1 51 23 0 23 1.0 intronic rs852701 DCBLD2 AU NM_080927 exon11 c.22856-89A>G 0.385783 0.6796 0.284269 0.3907 0.6919 0.5 T 0.0 P -0.939 T Uncertain 3_98541012_G->A 3 98541012 98541012 G A snp 1157.77 1/1 84 39 0 39 1.0 intronic rs866873 DCBLD2 AU NM_080927 exon11 c.22856-59G>A 0.957468 0.9812 0.967562 0.9886 0.9805 Uncertain 3_98541116_G->A 3 98541116 98541116 G A snp 4140.77 1/1 99 163 0 163 1.0 exonic rs828616 DCBLD2 AU synonymous SNV NM_080927 exon6 c.C786T p.I262I 0.385982 0.6806 0.276701 0.3859 0.6898 Uncertain 3_98541422_G->T 3 98541422 98541422 G T snp 581.77 1/1 45 16 0 16 1.0 intronic rs828617 DCBLD2 AU NM_080927 exon12 c.23297-90G>T 0.432508 0.7093 Uncertain 3_98541633_G->A 3 98541633 98541633 G A snp 1920.77 0/1 99 132 55 77 0.58 intronic rs828618 DCBLD2 AU NM_080927 exon12 c.23370+48G>A 0.253994 0.4236 0.217173 0.2880 0.4556 Uncertain 3_98541799_A->C 3 98541799 98541799 A C snp 180.9 1/1 15 5 0 5 1.0 intronic rs828619 DCBLD2 AU NM_080927 exon12 c.23370+214A>C 0.96266 1 Uncertain 3_98542485_-->AAGAA 3 98542485 98542485 - AAGAA indel 1842.73 1/1 72 25 0 25 1.0 intronic rs10639285 DCBLD2 AU NM_080927 exon12 c.23370+900insAAGAA 0.957668 0.9812 Uncertain 3_98544353_G->A 3 98544353 98544353 G A snp 891.77 1/1 66 34 0 34 1.0 intronic rs828622 DCBLD2 AU NM_080927 exon13 c.25995+143G>A 0.957867 0.9812 Uncertain 3_99643176_C->T 3 99643176 99643176 C T snp 2651.77 0/1 99 231 120 111 0.48 exonic rs793440 FILIP1L AU nonsynonymous SNV NM_001042459 exon4 c.G503A p.R168H 0.253395 0.1954 0.289754 0.3131 0.1821 1 T 1.0 P -0.968 T 0.0 T 0.0 T Pathogenic 3_99860401_G->A 3 99860401 99860401 G A snp 2629.77 0/1 99 223 106 117 0.52 intronic rs7629487 CMSS1 AU NM_032359 exon2 c.328993-5415G>A 0.396166 0.3512 0.4345 0.3081 Uncertain 3_99904783_G->A 3 99904783 99904783 G A snp 71.77 0/1 99 9 6 3 0.33 ncRNA_intronic rs12629505 TMEM30C AU 0.460264 0.6042 Uncertain 3_100015146_G->T 3 100015146 100015146 G T snp 728.77 0/1 99 64 30 34 0.53 intronic rs3772698 TBC1D23 AU NM_018309 exon8 c.35257+27G>T 0.516573 0.6022 0.498306 0.5492 0.5684 Uncertain 3_100015166_C->T 3 100015166 100015166 C T snp 613.77 0/1 99 49 22 27 0.55 intronic rs3772697 TBC1D23 AU NM_018309 exon8 c.35257+47C>T 0.273163 0.5109 0.176802 0.2672 0.4855 Uncertain 3_100016726_-->T 3 100016726 100016726 - T indel 71.73 0/1 99 14 8 6 0.43 intronic rs3832199 TBC1D23 AU NM_018309 exon9 c.36904-40insT 0.288538 0.4573 0.2974 0.4891 Uncertain 3_100023933_T->A 3 100023933 100023933 T A snp 43.77 0/1 72 5 3 2 0.4 intronic rs2289509 TBC1D23 AU NM_018309 exon12 c.43870+201T>A 0.272764 0.5109 Uncertain 3_100029173_A->G 3 100029173 100029173 A G snp 88.77 0/1 99 26 21 5 0.19 intronic rs4928168 TBC1D23 AU NM_018309 exon14 c.49384-73A>G 0.300319 0.5109 Uncertain 3_100030628_-->T 3 100030628 100030628 - T indel 1592.73 0/1 99 136 69 67 0.49 intronic rs3217495 TBC1D23 AU NM_001199198 exon15 c.50814-48insT 0.276558 0.5109 0.2552 0.4899 Uncertain 3_100034849_A->T 3 100034849 100034849 A T snp 255.77 0/1 99 23 13 10 0.43 intronic rs4928169 TBC1D23 AU NM_018309 exon15 c.55080-93A>T 0.516773 0.6022 Uncertain 3_100053663_C->G 3 100053663 100053663 C G snp 445.77 0/1 99 25 9 16 0.64 intronic NIT2 AU NM_020202 exon1 c.7+21C>G Uncertain 3_100053684_-->G 3 100053684 100053684 - G indel 997.73 1/1 87 30 0 30 1.0 intronic rs3830303 NIT2 AU NM_020202 exon1 c.7+42insG 0.801917 0.9226 0.732327 0.7136 0.9286 Uncertain 3_100064829_C->G 3 100064829 100064829 C G snp 258.77 0/1 99 17 9 8 0.47 intronic rs2289505 NIT2 AU NM_020202 exon6 c.11389-195C>G 0.230032 0.2232 Uncertain 3_100064902_C->T 3 100064902 100064902 C T snp 1100.77 0/1 99 107 62 45 0.42 intronic rs2289506 NIT2 AU NM_020202 exon6 c.11389-122C>T 0.229433 0.2222 Uncertain 3_100067468_C->T 3 100067468 100067468 C T snp 1020.77 1/1 75 29 0 29 1.0 intronic rs277649 NIT2 AU NM_020202 exon7 c.14011-178C>T 0.797524 0.9345 Uncertain 3_100073725_C->G 3 100073725 100073725 C G snp 719.77 0/1 99 70 40 30 0.43 intronic rs57703319 NIT2 AU NM_020202 exon9 c.20036+54C>G 0.131989 0.1716 0.098336 Uncertain 3_100073826_T->G 3 100073826 100073826 T G snp 48.74 1/1 6 3 0 3 1.0 intronic rs277646 NIT2 AU NM_020202 exon9 c.20036+155T>G 0.799121 0.9355 Uncertain 3_100073907_A->- 3 100073907 100073907 A - indel 842.73 0/1 99 40 18 22 0.55 intronic rs3214701 NIT2 AU NM_020202 exon10 c.20385-113delA 0.132588 0.1716 Uncertain 3_100086861_T->C 3 100086861 100086861 T C snp 1848.77 1/1 99 55 0 55 1.0 intronic rs277640 TOMM70A AU NM_014820 exon2 c.2480-26T>C 0.796126 0.9355 0.735045 0.7062 0.9373 Uncertain 3_100092527_-->GTGC 3 100092527 100092527 - GTGC indel 5163.73 1/1 99 85 0 85 1.0 intronic rs34039127 TOMM70A AU NM_014820 exon5 c.8082+38insGTGC 0.722667 0.0001 0 Uncertain 3_100092528_T->A 3 100092528 100092528 T A snp 2452.77 1/1 99 70 0 70 1.0 intronic rs77454344 TOMM70A AU NM_014820 exon5 c.8082+39T>A 0.0001 0 Uncertain 3_100093841_T->C 3 100093841 100093841 T C snp 511.77 0/1 99 70 46 24 0.34 intronic rs60463428 TOMM70A AU NM_014820 exon6 c.9454-20T>C 0.138778 0.1726 0.111179 0.0852 0.1851 Uncertain 3_100094154_G->T 3 100094154 100094154 G T snp 77.77 0/1 99 7 4 3 0.43 intronic rs13071905 TOMM70A AU NM_014820 exon6 c.9589+158G>T 0.243211 0.2242 Uncertain 3_100170553_G->A 3 100170553 100170553 G A snp 1042.77 0/1 99 118 69 49 0.42 intronic rs7641299 LNP1 AU NM_001085451 exon3 c.21989-9G>A 0.14976 0.131 0.201213 0.2307 0.1417 Uncertain 3_100170628_A->G 3 100170628 100170628 A G snp 1298.77 0/1 99 199 125 74 0.37 exonic rs9844083 LNP1 AU synonymous SNV NM_001085451 exon3 c.A222G p.Q74Q 0.0968 0.2218 Uncertain 3_100170634_T->C 3 100170634 100170634 T C snp 1208.77 0/1 99 197 126 71 0.36 exonic rs9848109 LNP1 AU synonymous SNV NM_001085451 exon3 c.T228C p.F76F 0.0882 0.1872 Uncertain 3_100170825_G->A 3 100170825 100170825 G A snp 627.77 0/1 99 58 31 27 0.47 intronic rs6797397 LNP1 AU NM_001085451 exon3 c.22220+32G>A 0.522764 0.7192 0.428220 0.4683 0.7239 Uncertain 3_100174722_G->A 3 100174722 100174722 G A snp 1915.77 0/1 99 162 76 86 0.53 exonic rs1132022 LNP1 AU synonymous SNV NM_001085451 exon4 c.G489A p.E163E 0.484425 0.7222 0.388148 0.4493 0.7231 Uncertain 3_100238232_TG->- 3 100238232 100238233 TG - indel 514.73 0/1 99 24 9 15 0.63 intronic rs397810291 TMEM45A AU Uncertain 3_100354683_G->A 3 100354683 100354683 G A snp 1925.77 1/1 99 57 0 57 1.0 intronic rs1520652 ADGRG7 AU NM_032787 exon5 c.25970+13G>A 0.745008 0.9841 0.609351 0.7159 0.9891 Uncertain 3_100354698_T->A 3 100354698 100354698 T A snp 687.77 1/1 51 19 0 19 1.0 intronic rs1718281 ADGRG7 AU NM_032787 exon5 c.25970+28T>A 0.808706 0.9673 0.810513 0.8759 0.9931 Uncertain 3_100356027_C->G 3 100356027 100356027 C G snp 472.77 1/1 36 12 0 12 1.0 intronic rs4144968 ADGRG7 AU NM_032787 exon6 c.27445-118C>G 0.746006 0.9841 Uncertain 3_100368425_A->G 3 100368425 100368425 A G snp 467.77 1/1 36 12 0 12 1.0 intronic rs7622958 ADGRG7 AU NM_032787 exon11 c.39838-113A>G 0.582069 0.7321 Uncertain 3_100368692_A->G 3 100368692 100368692 A G snp 2753.77 1/1 99 98 0 98 1.0 intronic rs1144118 ADGRG7 AU NM_032787 exon11 c.39951+41A>G 0.876997 0.999 0.875423 0.9622 0.9974 Uncertain 3_100374740_T->C 3 100374740 100374740 T C snp 771.77 0/1 99 88 52 36 0.41 splicing rs9866111 ADGRG7 AU NM_032787 exon13 c.46042-2T>C 0.495008 0.4266 0.482467 0.5726 0.4000 Pathogenic 3_100463651_T->G 3 100463651 100463651 T G snp 1183.77 0/1 99 129 71 58 0.45 intronic rs61230753 TFG AR,AD NM_001007565 exon7 c.31147-25T>G 0.0692891 0.3075 0.007151 0.0338 0.3197 Uncertain 3_100467018_T->C 3 100467018 100467018 T C snp 1830.77 0/1 99 110 47 63 0.57 exonic rs11353 TFG AR,AD synonymous SNV NM_006070 exon8 c.T846C p.P282P 0.713059 0.6518 0.655082 0.6993 0.6366 1.000 P -1.026 T Likely benign 3_100473505_C->T 3 100473505 100473505 C T snp 2375.77 0/1 99 212 110 102 0.48 exonic rs10936352 ABI3BP AU synonymous SNV NM_015429 exon31 c.G2748A p.P916P 0.290935 0.1181 0.315918 0.4401 0.2288 1.000 P -0.965 T Likely benign 3_100493607_T->C 3 100493607 100493607 T C snp 470.77 1/1 36 14 0 14 1.0 intronic rs3736534 ABI3BP AU NM_015429 exon8 c.24179+90T>C 0.315895 0.3413 Uncertain 3_100511379_G->A 3 100511379 100511379 G A snp 626.77 1/1 48 17 0 17 1.0 intronic rs989794 ABI3BP AU NM_015429 exon13 c.42196-155G>A 0.48103 0.3274 Uncertain 3_100511428_G->A 3 100511428 100511428 G A snp 1372.77 1/1 99 42 0 42 1.0 intronic rs989793 ABI3BP AU NM_015429 exon13 c.42196-106G>A 0.48103 0.3274 Uncertain 3_100511446_T->A 3 100511446 100511446 T A snp 1931.77 1/1 99 63 0 63 1.0 intronic rs989795 ABI3BP AU NM_015429 exon13 c.42196-88T>A 0.481829 0.3313 Uncertain 3_100514481_C->T 3 100514481 100514481 C T snp 371.77 0/1 99 18 6 12 0.67 intronic rs12696195 ABI3BP AU NM_015429 exon14 c.44509+634C>T 0.158147 0.244 Uncertain 3_100530856_T->C 3 100530856 100530856 T C snp 50.74 1/1 6 2 0 2 1.0 intronic rs764684 ABI3BP AU NM_015429 exon17 c.57741+3777T>C 0.505391 0.3433 Uncertain 3_100536284_C->T 3 100536284 100536284 C T snp 595.77 0/1 99 63 34 29 0.46 intronic rs12632235 ABI3BP AU NM_015429 exon17 c.57741+9205C>T 0.109026 0.0437 0.0708 0.0521 0.954 P -1.012 T Uncertain 3_100539676_G->C 3 100539676 100539676 G C snp 162.78 0/1 24 6 1 5 0.83 intronic rs7634500 ABI3BP AU NM_015429 exon17 c.57741+12597G>C 0.475639 0.3323 Uncertain 3_100549242_C->T 3 100549242 100549242 C T snp 500.77 0/1 99 23 6 17 0.74 intronic rs74855982 ABI3BP AU NM_015429 exon18 c.95877-15973C>T 0.10004 0.0446 Uncertain 3_100558416_T->C 3 100558416 100558416 T C snp 1320.77 0/1 99 104 48 56 0.54 intronic rs9841585 ABI3BP AU NM_015429 exon18 c.95877-6799T>C 0.244609 0.2817 0.2557 0.2822 0.7 T 0.002 P -1.078 T 0.007 T 0.006 T Uncertain 3_100558905_A->G 3 100558905 100558905 A G snp 1051.77 0/1 99 82 35 47 0.57 intronic rs1354374 ABI3BP AU NM_015429 exon18 c.95877-6310A>G 0.111422 0.1577 0.1000 0.1212 Uncertain 3_100565031_G->C 3 100565031 100565031 G C snp 122.77 0/1 64 6 2 4 0.67 intronic rs6774830 ABI3BP AU NM_015429 exon18 c.95877-184G>C 0.655152 0.502 Uncertain 3_100566555_G->C 3 100566555 100566555 G C snp 881.77 0/1 99 67 32 35 0.52 intronic rs3821728 ABI3BP AU NM_015429 exon19 c.97179+38G>C 0.0814696 0.1538 0.063318 0.0796 0.1537 Uncertain 3_100583652_A->- 3 100583652 100583652 A - indel 351.73 0/1 99 34 12 22 0.65 intronic rs10711419 ABI3BP AU NM_015429 exon25 c.114338-24delA 0.280551 0.3383 0.4626 0.5219 Uncertain 3_100585694_C->G 3 100585694 100585694 C G snp 2165.77 0/1 99 198 100 98 0.49 intronic rs3732899 ABI3BP AU NM_015429 exon26 c.116384-28C>G 0.265375 0.3244 0.279022 0.2997 0.3166 Uncertain 3_100605206_A->G 3 100605206 100605206 A G snp 355.77 0/1 99 31 18 13 0.42 intronic rs1987384 ABI3BP AU NM_015429 exon31 c.135829+39A>G 0.728634 0.8194 0.771758 0.8148 0.8328 Uncertain 3_100617680_C->T 3 100617680 100617680 C T snp 3560.77 1/1 99 133 0 133 1.0 exonic rs2245370 ABI3BP AU synonymous SNV NM_015429 exon4 c.G408A p.S136S 0.728035 0.9335 0.561538 0.6168 0.9192 Uncertain 3_100621426_C->A 3 100621426 100621426 C A snp 3495.77 1/1 99 127 0 127 1.0 intronic rs2576365 ABI3BP AU NM_015429 exon33 c.152123-35C>A 0.882588 0.998 0.831313 0.8772 0.9996 Uncertain 3_100712249_T->C 3 100712249 100712249 T C snp 705.77 0/1 99 94 54 40 0.43 exonic rs3732895 ABI3BP AU nonsynonymous SNV NM_015429 exon1 c.A1G p.M1V 0.239417 0.4127 0.145075 0.2148 0.4518 0.46 T 0.999 P -0.907 T 0.0 T 0.0 T Pathogenic 3_100945983_A->T 3 100945983 100945983 A T snp 38.77 0/1 67 5 3 2 0.4 intronic rs486352 IMPG2 AR,AD NM_016247 exon1 c.13+158A>T 0.647364 0.6577 Uncertain 3_100946742_T->G 3 100946742 100946742 T G snp 928.77 0/1 99 101 56 45 0.45 intronic rs521661 IMPG2 AR,AD NM_016247 exon2 c.1828-898T>G 0.813498 0.8274 0.7365 0.8561 Uncertain 3_100949668_C->A 3 100949668 100949668 C A snp 39.77 0/1 68 4 2 2 0.5 intronic rs2271973 IMPG2 AR,AD NM_016247 exon4 c.3988-132C>A 0.209465 0.3056 Uncertain 3_100949842_G->A 3 100949842 100949842 G A snp 869.77 0/1 99 74 33 41 0.55 exonic rs348867 IMPG2 AR,AD synonymous SNV NM_016247 exon16 c.C3381T p.L1127L 0.812899 0.8244 0.795479 0.7911 0.8164 Uncertain 3_100963154_G->A 3 100963154 100963154 G A snp 2089.77 0/1 99 165 84 81 0.49 exonic rs571391 IMPG2 AR,AD nonsynonymous SNV NM_016247 exon13 c.C2021T p.T674I 0.649161 0.6528 0.635015 0.6516 0.6411 0.51 T 0.0 P -1.005 T 0.002 T 0.002 T CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000081790.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 3_100976755_G->C 3 100976755 100976755 G C snp 542.77 0/1 99 42 22 20 0.48 intronic rs7613046 IMPG2 AR,AD NM_016247 exon10 c.30805+138G>C 0.835064 0.8522 Uncertain 3_101010499_G->T 3 101010499 101010499 G T snp 56.74 1/1 6 2 0 2 1.0 intronic rs538834 IMPG2 AR,AD NM_016247 exon16 c.64542+145G>T 0.737819 0.8313 Uncertain 3_101038297_G->A 3 101038297 101038297 G A snp 507.77 1/1 39 13 0 13 1.0 intronic rs545322 IMPG2 AR,AD NM_016247 exon18 c.92615-130G>A 0.73762 0.8313 Uncertain 3_101038339_G->A 3 101038339 101038339 G A snp 1743.77 1/1 99 54 0 54 1.0 intronic rs546090 IMPG2 AR,AD NM_016247 exon18 c.92615-88G>A 0.744609 0.8313 Uncertain 3_101039107_A->C 3 101039107 101039107 A C snp 520.77 1/1 39 18 0 18 1.0 intronic rs573908 IMPG2 AR,AD NM_016247 exon19 c.93319-24A>C 0.738219 0.8313 0.699985 0.7917 0.8338 Uncertain 3_101046671_C->A 3 101046671 101046671 C A snp 2213.77 1/1 99 70 0 70 1.0 intronic rs9849770 SENP7 AU NM_001282803 exon2 c.1874+11C>A 0.426118 0.4831 0.372501 0.4520 0.4718 Uncertain 3_101051794_C->T 3 101051794 101051794 C T snp 305.78 1/1 24 9 0 9 1.0 intronic rs2068494 SENP7 AU NM_001282803 exon7 c.6920+88C>T 0.426318 0.4831 0.4299 0.4486 Uncertain 3_101056238_A->C 3 101056238 101056238 A C snp 56.74 1/1 6 2 0 2 1.0 intronic rs2317689 SENP7 AU NM_001282803 exon8 c.11566-114A>C 0.433307 0.4831 Uncertain 3_101060716_T->G 3 101060716 101060716 T G snp 683.77 1/1 51 22 0 22 1.0 intronic rs6441598 SENP7 AU NM_001282803 exon10 c.15837+93T>G 0.426717 0.4851 Uncertain 3_101066964_T->C 3 101066964 101066964 T C snp 543.77 1/1 42 17 0 17 1.0 intronic rs7636229 SENP7 AU NM_001282803 exon12 c.22109+69T>C 0.427516 0.4831 Uncertain 3_101066992_A->T 3 101066992 101066992 A T snp 421.77 1/1 33 11 0 11 1.0 intronic rs2553421 SENP7 AU NM_001282803 exon12 c.22109+97A>T 0.779353 0.878 Uncertain 3_101080694_T->C 3 101080694 101080694 T C snp 1271.77 1/1 90 53 0 53 1.0 exonic rs7616677 SENP7 AU synonymous SNV NM_001282803 exon8 c.A996G p.E332E 0.427716 0.4901 0.374344 0.4385 0.4764 Uncertain 3_101085413_G->A 3 101085413 101085413 G A snp 6427.77 1/1 99 233 1 232 1.0 exonic rs939443 SENP7 AU synonymous SNV NM_001282803 exon6 c.C687T p.T229T 0.427117 0.4831 0.375673 0.4370 0.4637 Uncertain 3_101136340_C->T 3 101136340 101136340 C T snp 182.9 1/1 15 5 0 5 1.0 intronic rs9822356 SENP7 AU NM_001282804 exon2 c.45593-96C>T 0.425719 0.4831 Uncertain 3_101136385_C->A 3 101136385 101136385 C A snp 1303.77 1/1 96 33 0 33 1.0 intronic rs4482646 SENP7 AU NM_001282804 exon2 c.45593-51C>A 0.425719 0.4831 0.383851 Uncertain 3_101177644_A->C 3 101177644 101177644 A C snp 2226.77 1/1 99 57 0 57 1.0 intronic rs12496159 SENP7 AU NM_001282804 exon3 c.86955-154A>C 0.426318 0.4831 Uncertain 3_101212889_C->T 3 101212889 101212889 C T snp 590.77 1/1 45 18 0 18 1.0 intronic rs3846088 SENP7 AU NM_001282804 exon4 c.121969+77C>T 0.425919 0.4831 Uncertain 3_101219818_G->A 3 101219818 101219818 G A snp 136.03 1/1 12 4 0 4 1.0 intronic rs7619540 SENP7 AU NM_020654 exon23 c.175127-95G>A 0.425719 0.4831 Uncertain 3_101219889_G->C 3 101219889 101219889 G C snp 1294.77 1/1 93 47 0 47 1.0 intronic rs7621830 SENP7 AU NM_020654 exon23 c.175127-24G>C 0.425319 0.4821 0.374615 0.4404 0.4619 Uncertain 3_101231871_C->T 3 101231871 101231871 C T snp 1165.77 1/1 84 46 0 46 1.0 intronic rs9681493 SENP7 AU NM_001282804 exon5 c.141091-63C>T 0.436901 0.5248 0.381078 Uncertain 3_101231894_T->G 3 101231894 101231894 T G snp 641.77 0/1 99 53 28 25 0.47 intronic rs9682312 SENP7 AU NM_001282804 exon5 c.141091-40T>G 0.23143 0.3423 0.2176 0.3081 Uncertain 3_101231895_A->T 3 101231895 101231895 A T snp 627.77 0/1 99 52 27 25 0.48 intronic rs9682156 SENP7 AU NM_001282804 exon5 c.141091-39A>T 0.231629 0.3423 0.2175 0.3079 Uncertain 3_101231921_T->C 3 101231921 101231921 T C snp 1628.77 1/1 99 67 0 67 1.0 intronic rs9682313 SENP7 AU NM_001282804 exon5 c.141091-13T>C 0.440895 0.5248 0.372213 0.4441 0.5027 Uncertain 3_101232057_G->A 3 101232057 101232057 G A snp 203.84 1/1 18 6 0 6 1.0 UTR5 rs9682739 SENP7 AU 0.469848 0.502 Uncertain 3_101308846_G->A 3 101308846 101308846 G A snp 56.74 1/1 6 2 0 2 1.0 intronic rs6441614 PCNP AU NM_020357 exon4 c.15999-212G>A 0.998802 1 Uncertain 3_101308874_C->T 3 101308874 101308874 C T snp 430.77 1/1 33 16 0 16 1.0 intronic rs3762729 PCNP AU NM_020357 exon4 c.15999-184C>T 0.214856 0.2708 Uncertain 3_101370530_A->- 3 101370530 101370530 A - indel 287.73 0/1 52 51 11 40 0.78 splicing rs56200814 ZBTB11 AU NM_014415 exon1 c.518+3delA 0.40615 0.4137 0.3112 0.2916 Pathogenic 3_101371899_G->T 3 101371899 101371899 G T snp 770.77 1/1 57 21 0 21 1.0 intronic rs2303474 ZBTB11 AU NM_014415 exon3 c.1773+117G>T 0.23722 0.2917 Uncertain 3_101371922_A->G 3 101371922 101371922 A G snp 590.77 1/1 45 15 0 15 1.0 intronic rs7629753 ZBTB11 AU NM_014415 exon3 c.1773+140A>G 0.331669 0.2917 Uncertain 3_101383321_T->C 3 101383321 101383321 T C snp 1725.77 1/1 99 49 0 49 1.0 intronic rs13081846 ZBTB11 AU NM_014415 exon7 c.13372-60T>C 0.27516 0.2917 Uncertain 3_101383562_G->A 3 101383562 101383562 G A snp 3968.77 1/1 99 140 2 138 0.99 splicing rs11712748 ZBTB11 AU NM_014415 exon7 c.13549+4G>A 0.330671 0.2917 0.373808 0.3273 0.2897 Pathogenic 3_101389864_T->C 3 101389864 101389864 T C snp 4093.77 1/1 99 131 0 131 1.0 intronic rs9837549 ZBTB11 AU NM_014415 exon9 c.19964-109T>C 0.998802 1 Uncertain 3_101395629_C->T 3 101395629 101395629 C T snp 3141.77 0/1 99 223 95 128 0.57 exonic rs3749323 ZBTB11 AU nonsynonymous SNV NM_014415 exon1 c.G130A p.G44S 0.0217652 0.0575 0.000309 0.0107 0.0567 0.08 T 0.174 P -1.001 T 0.145 T 0.009 T Pathogenic 3_101400167_T->C 3 101400167 101400167 T C snp 2418.77 1/1 99 82 0 82 1.0 intronic rs3094296 RPL24 AU NM_000986 exon1 c.81+108T>C 0.251198 0.2917 Uncertain 3_101404761_A->G 3 101404761 101404761 A G snp 1031.77 0/1 99 87 41 46 0.53 exonic rs148551888 RPL24 AU synonymous SNV NM_000986 exon3 c.T93C p.F31F 0.0071885 0.0188 0.000154 0.0057 0.0291 Uncertain 3_101404892_G->A 3 101404892 101404892 G A snp 580.77 0/1 99 39 15 24 0.62 intronic rs2303471 RPL24 AU NM_000986 exon4 c.4794+120G>A 0.047524 0.1448 Uncertain 3_101443461_T->C 3 101443461 101443461 T C snp 894.77 1/1 66 29 0 29 1.0 UTR5 rs994573 CEP97 AU 0.998802 1 0.996496 Uncertain 3_101446208_AT->- 3 101446208 101446209 AT - indel 3885.73 1/1 99 78 0 78 1.0 intronic rs3070526 CEP97 AU NM_001303401 exon3 c.2706-18_2706-17delAT 0.289936 0.2927 0.327823 0.3106 0.2884 Uncertain 3_101484335_G->A 3 101484335 101484335 G A snp 5974.77 1/1 99 215 0 215 1.0 exonic rs2625282 CEP97 AU synonymous SNV NM_001303401 exon11 c.G2361A p.Q787Q 0.904952 0.9901 0.901799 0.9110 0.9892 Uncertain 3_101504624_A->C 3 101504624 101504624 A C snp 504.77 1/1 39 14 0 14 1.0 intronic rs2625289 NXPE3 AU NM_001134456 exon4 c.93+91A>C 0.902157 0.995 Uncertain 3_101504674_G->A 3 101504674 101504674 G A snp 90.28 1/1 9 3 0 3 1.0 intronic rs17347156 NXPE3 AU NM_001134456 exon4 c.93+141G>A 0.250399 0.2748 Uncertain 3_101571550_A->G 3 101571550 101571550 A G snp 269.8 1/1 21 9 0 9 1.0 intronic rs587555 NFKBIZ AU NM_031419 exon3 c.3109-31A>G 0.508387 0.4484 0.575319 0.6109 0.4879 Uncertain 3_101572822_C->G 3 101572822 101572822 C G snp 255.77 0/1 99 13 5 8 0.62 intronic rs2925334 NFKBIZ AU NM_031419 exon5 c.4235+115C>G 0.541134 0.4385 Uncertain 3_101574503_G->A 3 101574503 101574503 G A snp 231.77 0/1 99 14 7 7 0.5 intronic rs677011 NFKBIZ AU NM_031419 exon9 c.6104-73G>A 0.542133 0.4395 Uncertain 3_101575882_T->C 3 101575882 101575882 T C snp 902.77 0/1 99 76 37 39 0.51 intronic rs595788 NFKBIZ AU NM_031419 exon10 c.7444-34T>C 0.4942 0.4397 Uncertain 3_101576029_-->ACTTTTAGAAAGCTTTAATAACC 3 101576029 101576029 - ACTTTTAGAAAGCTTTAATAACC indel 25602.7 0/1 99 247 134 113 0.46 splicing rs3217713 NFKBIZ AU NM_031419 exon10 c.7555+2insACTTTTAGAAAGCTTTAATAACC 0.811302 0.6528 0.807594 0.7813 0.6821 Pathogenic 3_101576143_A->G 3 101576143 101576143 A G snp 2681.77 0/1 99 240 127 113 0.47 exonic rs76884309 NFKBIZ AU nonsynonymous SNV NM_031419 exon11 c.A1943G p.N648S 0.00259585 0.0119 0.000077 0.0007 0.0094 0.11 T 1.000 D -0.704 T 0.815 T 0.628 P Pathogenic 3_101576175_T->C 3 101576175 101576175 T C snp 2715.77 0/1 99 215 108 107 0.5 exonic rs14134 NFKBIZ AU synonymous SNV NM_031419 exon11 c.T1975C p.L659L 0.534345 0.4405 0.591727 0.5948 0.4757 Uncertain 3_102195680_C->A 3 102195680 102195680 C A snp 54.74 1/1 6 2 0 2 1.0 intronic rs7627117 ZPLD1 AU NM_175056 exon10 c.41897-175C>A 0.409345 0.2917 Uncertain 3_105238891_TT->- 3 105238891 105238892 TT - indel 4841.73 ./1 99 177 5 172 0.97 intronic rs577424066 ALCAM AU NM_001243283 exon2 c.152658-19_152658-18delTT 0.00599042 0.004 0.0196 0.0329 Uncertain 3_105238891_T->- 3 105238891 105238891 T - indel 4841.73 ./1 99 177 5 172 0.97 intronic rs11291806 ALCAM AU NM_001243283 exon2 c.152658-19delT 0.758187 0.9147 0.7187 0.9000 Uncertain 3_105238901_T->C 3 105238901 105238901 T C snp 2458.77 0/1 99 198 88 110 0.56 intronic rs2291376 ALCAM AU NM_001243283 exon2 c.152658-9T>C 0.429513 0.5288 0.036445 0.3692 0.5201 Uncertain 3_105252377_G->C 3 105252377 105252377 G C snp 1135.77 0/1 99 70 27 43 0.61 intronic rs2171146 ALCAM AU NM_001243281 exon5 c.166194-69G>C 0.547724 0.745 Uncertain 3_105260518_G->A 3 105260518 105260518 G A snp 2055.77 0/1 99 192 102 90 0.47 exonic rs579565 ALCAM AU synonymous SNV NM_001627 exon8 c.G900A p.L300L 0.236821 0.1548 0.243195 0.2197 0.1631 Uncertain 3_105260596_T->C 3 105260596 105260596 T C snp 3237.77 1/1 99 120 0 120 1.0 exonic rs599278 ALCAM AU synonymous SNV NM_001627 exon8 c.T978C p.A326A 0.960863 1 0.961864 0.9890 1 Uncertain 3_105266274_T->C 3 105266274 105266274 T C snp 1287.77 0/1 99 107 49 58 0.54 exonic rs16851279 ALCAM AU synonymous SNV NM_001627 exon11 c.T1281C p.S427S 0.139976 0.1716 0.096692 0.1371 0.2039 1.000 P -1.065 T Likely benign 3_105271238_G->A 3 105271238 105271238 G A snp 1140.77 0/1 99 104 63 41 0.39 intronic rs118123949 ALCAM AU NM_001243281 exon14 c.185059-73G>A 0.00599042 0.0288 Uncertain 3_105404031_T->C 3 105404031 105404031 T C snp 341.77 0/1 99 28 14 14 0.5 intronic rs16851440 CBLB AU NM_170662 exon6 c.26350-132T>C 0.46226 0.2778 Uncertain 3_105412286_-->TT 3 105412286 105412286 - TT indel 1797.73 1/1 99 36 0 36 1.0 intronic rs10635036 CBLB AU NM_170662 exon7 c.34524-51insTT 0.996406 1 0.996723 Uncertain 3_105422844_C->T 3 105422844 105422844 C T snp 924.77 1/1 66 35 0 35 1.0 exonic rs2305037 CBLB AU synonymous SNV NM_170662 exon11 c.G1581A p.T527T 0.750998 0.7788 0.736891 0.7307 0.7642 Uncertain 3_105423088_T->C 3 105423088 105423088 T C snp 250.8 1/1 21 7 0 7 1.0 intronic rs1548056 CBLB AU NM_170662 exon9 c.45204+71T>C 0.984824 1 Uncertain 3_105438806_G->A 3 105438806 105438806 G A snp 908.77 0/1 99 62 25 37 0.6 intronic rs7624400 CBLB AU NM_170662 exon10 c.61077-84G>A 0.804912 0.5893 Uncertain 3_105452751_C->T 3 105452751 105452751 C T snp 558.77 1/1 42 16 0 16 1.0 intronic rs1992520 CBLB AU NM_170662 exon11 c.75039-101C>T 0.984625 1 Uncertain 3_105453034_A->G 3 105453034 105453034 A G snp 1717.77 1/1 99 52 0 52 1.0 intronic rs6768096 CBLB AU NM_170662 exon11 c.75171+50A>G 0.984625 1 0.985161 0.9959 1 Uncertain 3_105455955_T->C 3 105455955 105455955 T C snp 863.77 0/1 99 52 17 35 0.67 intronic rs2289746 CBLB AU NM_170662 exon12 c.78201-59T>C 0.570088 0.37 Uncertain 3_105468330_C->T 3 105468330 105468330 C T snp 172.9 1/1 15 6 0 6 1.0 intronic rs1443098 CBLB AU NM_170662 exon15 c.92492-1975C>T 0.991214 1 Uncertain 3_105495176_T->- 3 105495176 105495176 T - indel 1033.73 0/1 99 52 25 27 0.52 intronic rs3836269 CBLB AU NM_170662 exon16 c.117426-63delT 0.196486 0.4117 Uncertain 3_105495432_G->T 3 105495432 105495432 G T snp 3568.77 1/1 99 123 1 122 0.99 intronic rs9809911 CBLB AU NM_170662 exon16 c.117573+46G>T 0.984425 1 0.985391 0.9960 1 Uncertain 3_105586538_G->A 3 105586538 105586538 G A snp 558.77 1/1 42 14 0 14 1.0 intronic rs2221379 CBLB AU NM_170662 exon18 c.208622+103G>A 0.978834 1 Uncertain 3_105588069_G->A 3 105588069 105588069 G A snp 506.77 0/1 99 33 13 20 0.61 upstream rs11711088 CBLB AU 0.559904 0.4028 Uncertain 3_107096547_G->A 3 107096547 107096547 G A snp 6279.77 1/1 99 233 0 233 1.0 exonic rs709564 CCDC54 AU nonsynonymous SNV NM_032600 exon1 c.G113A p.R38Q 0.499201 0.8919 0.267107 0.3678 0.9080 0.64 T 0.0 P -1.004 T 0.006 T 0.003 T Pathogenic 3_107447857_T->A 3 107447857 107447857 T A snp 2620.77 1/1 99 90 0 90 1.0 intronic rs3761963 BBX AU NM_001142568 exon6 c.18500+50T>A 0.476837 0.9226 0.334999 0.4347 0.9405 Uncertain 3_107451907_C->T 3 107451907 107451907 C T snp 3402.77 1/1 99 127 0 127 1.0 intronic rs4855764 BBX AU NM_001142568 exon7 c.22563+37C>T 0.997404 1 0.995771 0.9988 1 Uncertain 3_107463457_G->- 3 107463457 107463457 G - indel 4216.73 1/1 99 94 0 94 1.0 intronic rs3838316 BBX AU NM_001142568 exon8 c.34169-19delG 0.485024 0.9216 0.347229 0.4352 0.9387 Uncertain 3_107519843_T->C 3 107519843 107519843 T C snp 1947.77 1/1 99 54 0 54 1.0 intronic rs1532325 BBX AU NM_001142568 exon17 c.90634-98T>C 0.973642 1 Uncertain 3_107524112_-->T 3 107524112 107524112 - T indel 1193.73 1/1 87 29 0 29 1.0 intronic rs3840144 BBX AU NM_001142568 exon18 c.94909-104insT 0.483027 0.878 Uncertain 3_107646728_G->A 3 107646728 107646728 G A snp 500.77 1/1 39 14 0 14 1.0 ncRNA_exonic rs4855779 LINC00636 AU 0.588259 0.9623 0.5713 0.95 Uncertain 3_107646807_G->T 3 107646807 107646807 G T snp 2370.77 1/1 99 72 0 72 1.0 ncRNA_exonic rs9837335 LINC00636 AU 0.430711 0.871 0.5671 0.8667 0 D 0.0 P -0.994 T 0.953 T 0.663 D Uncertain 3_107646895_T->C 3 107646895 107646895 T C snp 3939.77 1/1 99 153 0 153 1.0 ncRNA_exonic rs9861097 LINC00636 AU 0.438698 0.879 0.4237 0.8481 0 D 0.0 P -1.046 T 0.0 T 0.0 T Uncertain 3_107647002_A->- 3 107647002 107647002 A - indel 3481.73 1/1 99 124 0 124 1.0 ncRNA_exonic rs35976982 LINC00636 AU 0.4433 0.8380 Uncertain 3_107769626_C->T 3 107769626 107769626 C T snp 85.77 0/1 67 8 4 4 0.5 intronic rs141622665 CD47 AU NM_001777 exon3 c.3315+177C>T 0.00399361 0.0198 0.0007 0.0199 Uncertain 3_107776511_C->T 3 107776511 107776511 C T snp 281.78 1/1 24 8 0 8 1.0 intronic rs709436 CD47 AU NM_198793 exon3 c.10286+95C>T 0.995008 1 Uncertain 3_107777051_C->A 3 107777051 107777051 C A snp 450.77 1/1 36 12 0 12 1.0 intronic rs3762679 CD47 AU NM_198793 exon4 c.11053-132C>A 0.291334 0.2867 Uncertain 3_107809798_C->T 3 107809798 107809798 C T snp 322.78 1/1 24 14 0 14 1.0 UTR5 rs445541 CD47 AU 1 1 1 1 Uncertain 3_107882643_G->A 3 107882643 107882643 G A snp 187.9 1/1 15 7 0 7 1.0 intronic rs327168 IFT57 AU NM_018010 exon2 c.1253+67G>A 0.762979 0.4931 0.909649 Uncertain 3_107884211_T->C 3 107884211 107884211 T C snp 1349.77 1/1 99 37 0 37 1.0 intronic rs327167 IFT57 AU NM_018010 exon3 c.2954-66T>C 0.998602 1 0.997372 Uncertain 3_107884269_A->G 3 107884269 107884269 A G snp 995.77 0/1 99 94 54 40 0.43 intronic rs62264150 IFT57 AU NM_018010 exon3 c.2954-8A>G 0.0954473 0.1052 0.099569 0.0915 0.1175 Uncertain 3_107885875_A->G 3 107885875 107885875 A G snp 582.77 0/1 99 43 21 22 0.51 intronic rs2305551 IFT57 AU NM_018010 exon4 c.4509+43A>G 0.0954473 0.1052 0.098999 0.0923 0.1197 Uncertain 3_107910327_-->TT 3 107910327 107910327 - TT indel 215.73 0/1 99 41 22 19 0.46 intronic rs532732144 IFT57 AU NM_018010 exon6 c.29044-40insTT 0.0835 0.1032 Uncertain 3_107932621_G->A 3 107932621 107932621 G A snp 69.77 0/1 98 6 3 3 0.5 intronic rs62267895 IFT57 AU NM_018010 exon8 c.51454-156G>A 0.0902556 0.1052 Uncertain 3_107937231_T->C 3 107937231 107937231 T C snp 224.77 0/1 99 17 10 7 0.41 intronic rs1289761 IFT57 AU NM_018010 exon9 c.56058-150T>C 0.668131 0.3879 Uncertain 3_107937286_A->G 3 107937286 107937286 A G snp 1018.77 1/1 72 39 0 39 1.0 intronic rs1289760 IFT57 AU NM_018010 exon9 c.56058-95A>G 0.758387 0.4931 Uncertain 3_107937360_C->T 3 107937360 107937360 C T snp 807.77 0/1 99 72 34 38 0.53 intronic rs56273515 IFT57 AU NM_018010 exon9 c.56058-21C>T 0.0902556 0.1052 0.093034 0.0906 0.1173 Uncertain 3_107937408_C->T 3 107937408 107937408 C T snp 736.77 0/1 99 66 30 36 0.55 exonic rs1135897 IFT57 AU synonymous SNV NM_018010 exon3 c.G468A p.L156L 0.0888578 0.1052 0.091972 0.0897 0.1173 Uncertain 3_107937571_G->A 3 107937571 107937571 G A snp 122.77 0/1 99 9 3 6 0.67 intronic rs1289759 IFT57 AU NM_018010 exon9 c.56177+71G>A 0.668131 0.3879 Uncertain 3_107937602_C->T 3 107937602 107937602 C T snp 88.77 0/1 28 5 1 4 0.8 intronic rs1289758 IFT57 AU NM_018010 exon9 c.56177+102C>T 0.668131 0.3879 Uncertain 3_107938240_G->C 3 107938240 107938240 G C snp 866.77 0/1 99 72 37 35 0.49 intronic rs1289754 IFT57 AU NM_018010 exon10 c.56933-16G>C 0.668131 0.3879 0.807473 0.7814 0.3592 Uncertain 3_107938584_C->T 3 107938584 107938584 C T snp 159.77 1/1 9 5 0 5 1.0 intronic rs1289753 IFT57 AU NM_018010 exon10 c.57096+165C>T 0.390974 0.1171 Uncertain 3_108072425_C->T 3 108072425 108072425 C T snp 2694.77 0/1 99 215 101 114 0.53 exonic rs2124741 HHLA2 AU synonymous SNV NM_001282556 exon4 c.C216T p.H72H 0.153554 0.4444 0.026544 0.1010 0.4442 Uncertain 3_108072524_G->A 3 108072524 108072524 G A snp 3165.77 0/1 99 249 122 127 0.51 exonic rs2124740 HHLA2 AU synonymous SNV NM_001282556 exon4 c.G315A p.S105S 0.153554 0.4444 0.025534 0.1008 0.4446 1.000 P -0.914 T Likely benign 3_108096227_G->C 3 108096227 108096227 G C snp 5969.77 1/1 99 209 0 209 1.0 UTR3 rs1463425 HHLA2 AU 0.999601 1 Uncertain 3_108103433_T->C 3 108103433 108103433 T C snp 434.77 1/1 33 12 0 12 1.0 intronic rs3860537 MYH15 AU NM_014981 exon3 c.3142-100T>C 0.91274 0.999 Uncertain 3_108107704_C->T 3 108107704 108107704 C T snp 733.77 0/1 99 58 30 28 0.48 intronic rs1463431 MYH15 AU NM_014981 exon4 c.7425-112C>T 0.790535 0.4653 Uncertain 3_108107951_C->T 3 108107951 108107951 C T snp 2072.77 0/1 99 208 121 87 0.42 intronic rs1456714 MYH15 AU NM_014981 exon4 c.7530+30C>T 0.16873 0.503 0.028232 0.1059 0.4867 Uncertain 3_108135607_AA->- 3 108135607 108135608 AA - indel 1942.73 1/1 99 52 0 52 1.0 intronic rs398062666 MYH15 AU NM_014981 exon13 c.35267-51_35267-50delAA 0.922524 0.997 Uncertain 3_108135609_A->T 3 108135609 108135609 A T snp 1586.77 1/1 99 53 0 53 1.0 intronic rs116262927 MYH15 AU NM_014981 exon13 c.35267-49A>T 0.911142 0.995 0.9137 0.9878 Uncertain 3_108135680_C->T 3 108135680 108135680 C T snp 1577.77 0/1 99 151 80 71 0.47 exonic rs9873504 MYH15 AU synonymous SNV NM_014981 exon30 c.G3987A p.G1329G 0.209864 0.5496 0.072210 0.1324 0.5779 Uncertain 3_108135799_C->G 3 108135799 108135799 C G snp 2252.77 1/1 99 77 0 77 1.0 intronic rs11927603 MYH15 AU NM_014981 exon13 c.35386+22C>G 0.640775 0.7887 0.533086 0.5641 0.8167 Uncertain 3_108140148_A->G 3 108140148 108140148 A G snp 755.77 1/1 57 19 0 19 1.0 intronic rs4593038 MYH15 AU NM_014981 exon14 c.39670+87A>G 0.999601 1 Uncertain 3_108147295_C->A 3 108147295 108147295 C A snp 161.77 0/1 99 12 5 7 0.58 intronic rs1350235 MYH15 AU NM_014981 exon15 c.46947-43C>A 0.739217 0.4752 0.849068 0.7997 0.4641 Uncertain 3_108156633_-->AAAG 3 108156633 108156633 - AAAG indel 1103.73 0/1 99 37 13 24 0.65 intronic rs113832514 MYH15 AU NM_014981 exon17 c.56155+87insAAAG 0.83726 0.7837 Uncertain 3_108158837_T->A 3 108158837 108158837 T A snp 378.77 0/1 99 24 10 14 0.58 intronic rs12629032 MYH15 AU NM_014981 exon18 c.58369+77T>A 0.188898 0.5605 Uncertain 3_108159684_T->C 3 108159684 108159684 T C snp 168.77 0/1 99 12 6 6 0.5 intronic rs16854625 MYH15 AU NM_014981 exon19 c.59473-180T>C 0.195088 0.5605 Uncertain 3_108159977_G->A 3 108159977 108159977 G A snp 3148.77 0/1 99 249 121 128 0.51 exonic rs12638212 MYH15 AU nonsynonymous SNV NM_014981 exon24 c.C2846T p.T949I 0.188698 0.5605 0.044357 0.1244 0.5967 0.04 T 0.594 P -0.934 T 0.478 P 0.271 P Pathogenic 3_108179063_T->C 3 108179063 108179063 T C snp 152.77 0/1 99 14 7 7 0.5 intronic rs3957558 MYH15 AU NM_014981 exon25 c.78755-83T>C 0.206669 0.4474 Uncertain 3_108179220_A->- 3 108179220 108179220 A - indel 704.73 1/1 80 39 1 38 0.97 splicing rs11303627 MYH15 AU NM_014981 exon25 c.78823+6delA 0.5658 0.7120 Pathogenic 3_108183433_A->G 3 108183433 108183433 A G snp 976.77 0/1 99 80 42 38 0.47 intronic rs12488437 MYH15 AU NM_014981 exon27 c.83093-51A>G 0.188898 0.5595 0.045867 Uncertain 3_108189750_C->T 3 108189750 108189750 C T snp 1865.77 1/1 99 63 0 63 1.0 intronic rs12495639 MYH15 AU NM_014981 exon29 c.89303+56C>T 0.999401 1 Uncertain 3_108211869_-->AAGG 3 108211869 108211869 - AAGG indel 2695.73 ./1 99 41 0 41 1.0 intronic rs140450152 MYH15 AU NM_014981 exon34 c.111569-91insAAGG Uncertain 3_108211869_-->AAGGAAGG 3 108211869 108211869 - AAGGAAGG indel 2695.73 ./1 99 41 0 41 1.0 intronic rs140450152 MYH15 AU NM_014981 exon34 c.111569-91insAAGGAAGG Uncertain 3_108214537_T->G 3 108214537 108214537 T G snp 678.77 1/1 51 17 0 17 1.0 intronic rs2603140 MYH15 AU NM_014981 exon35 c.114235-89T>G 0.999401 1 Uncertain 3_108220556_C->T 3 108220556 108220556 C T snp 969.77 0/1 99 97 54 43 0.44 splicing rs368131843 MYH15 AU NM_014981 exon39 c.120167-2C>T 0.00119808 0.006 0.0003 0.0038 Pathogenic 3_108224685_-->A 3 108224685 108224685 - A indel 84.73 0/1 99 110 48 62 0.56 intronic rs772485988 MYH15 AU NM_014981 exon40 c.124285+9insA 0.0711 0.2155 Uncertain 3_108229171_T->C 3 108229171 108229171 T C snp 1301.77 1/1 93 42 0 42 1.0 intronic rs2249886 MYH15 AU NM_014981 exon41 c.128898-118T>C 0.999601 1 Uncertain 3_108229437_-->A 3 108229437 108229437 - A indel 346.73 0/1 99 57 30 27 0.47 splicing rs150536264 MYH15 AU NM_014981 exon41 c.129043+3insA 0.400759 0.5804 0.4349 0.5391 Pathogenic 3_108269936_T->C 3 108269936 108269936 T C snp 33.77 0/1 62 13 7 6 0.46 UTR3 KIAA1524 AU Uncertain 3_108271012_T->C 3 108271012 108271012 T C snp 769.77 0/1 99 65 33 32 0.49 intronic rs2305514 KIAA1524 AU NM_020890 exon2 c.1085-68T>C 0.369609 0.5268 Uncertain 3_108272414_-->A 3 108272414 108272414 - A indel 149.73 0/1 99 17 10 7 0.41 intronic rs76336584 KIAA1524 AU NM_020890 exon3 c.2499-80insA Uncertain 3_108273441_T->C 3 108273441 108273441 T C snp 328.77 0/1 99 34 18 16 0.47 intronic rs2045095 KIAA1524 AU NM_020890 exon4 c.3341+105T>C 0.369609 0.5268 Uncertain 3_108278471_G->A 3 108278471 108278471 G A snp 115.77 0/1 99 10 5 5 0.5 intronic rs62266396 KIAA1524 AU NM_020890 exon6 c.8608-132G>A 0.252596 0.4573 Uncertain 3_108286947_-->A 3 108286947 108286947 - A indel 320.73 0/1 99 25 11 14 0.56 intronic rs11386134 KIAA1524 AU NM_020890 exon12 c.17006-54insA 0.363219 0.5278 Uncertain 3_108295067_G->A 3 108295067 108295067 G A snp 302.77 0/1 99 40 23 17 0.42 intronic rs16854713 KIAA1524 AU NM_020890 exon14 c.25122-50G>A 0.254193 0.4554 0.177185 0.2569 0.4356 Uncertain 3_108298260_C->T 3 108298260 108298260 C T snp 1006.77 0/1 99 79 39 40 0.51 exonic rs2278911 KIAA1524 AU nonsynonymous SNV NM_020890 exon7 c.G686A p.R229Q 0.201677 0.5149 0.099646 0.1530 0.5399 0.02 T 0.995 P -0.922 T 0.139 T 0.018 T Pathogenic 3_108324365_C->T 3 108324365 108324365 C T snp 500.77 0/1 99 29 13 16 0.55 intronic rs41267019 DZIP3 AU NM_014648 exon2 c.32+80C>T 0.307907 0.4554 0.244196 Uncertain 3_108327050_-->AAC 3 108327050 108327050 - AAC indel 1067.73 0/1 99 24 6 18 0.75 intronic rs10684119 DZIP3 AU NM_014648 exon3 c.2752+45insAAC 0.638978 0.4722 0.6112 0.4571 Uncertain 3_108329888_A->G 3 108329888 108329888 A G snp 99.28 1/1 9 3 0 3 1.0 intronic rs3112026 DZIP3 AU NM_014648 exon4 c.5767-132A>G 0.999601 1 Uncertain 3_108355424_T->- 3 108355424 108355424 T - indel 244.75 1/1 24 8 0 8 1.0 intronic rs10711079 DZIP3 AU NM_014648 exon11 c.31209-38delT 0.996605 1 0.999515 0.9983 0.9998 Uncertain 3_108355576_T->- 3 108355576 108355576 T - indel 676.73 1/1 78 27 0 27 1.0 intronic rs10711080 DZIP3 AU NM_014648 exon11 c.31302+21delT 0.877596 0.881 0.7356 0.7283 Uncertain 3_108356539_C->G 3 108356539 108356539 C G snp 56.74 1/1 6 2 0 2 1.0 intronic rs3112024 DZIP3 AU NM_014648 exon12 c.32142+144C>G 0.635783 0.4722 Uncertain 3_108366978_A->G 3 108366978 108366978 A G snp 895.77 0/1 99 84 46 38 0.45 intronic rs2399235 DZIP3 AU NM_014648 exon16 c.42706+19A>G 0.245807 0.4554 0.152696 0.2350 0.4354 Uncertain 3_108367099_C->T 3 108367099 108367099 C T snp 74.77 0/1 99 8 5 3 0.38 intronic rs75702132 DZIP3 AU NM_014648 exon16 c.42706+140C>T 0.151158 0.5149 Uncertain 3_108393134_T->C 3 108393134 108393134 T C snp 884.77 0/1 99 73 37 36 0.49 intronic rs41267025 DZIP3 AU NM_014648 exon24 c.68775+106T>C 0.305711 0.4554 Uncertain 3_108393164_G->A 3 108393164 108393164 G A snp 391.77 0/1 99 34 18 16 0.47 intronic rs41267027 DZIP3 AU NM_014648 exon24 c.68775+136G>A 0.20028 0.5149 Uncertain 3_108394771_G->A 3 108394771 108394771 G A snp 1253.77 0/1 99 117 62 55 0.47 intronic rs12486790 DZIP3 AU NM_014648 exon25 c.70467+51G>A 0.253794 0.4554 0.179923 0.2575 0.4363 Uncertain 3_108403086_T->C 3 108403086 108403086 T C snp 3947.77 1/1 99 141 0 141 1.0 exonic rs9856097 DZIP3 AU synonymous SNV NM_014648 exon27 c.T2907C p.P969P 0.998403 1 0.997309 0.9991 1 Uncertain 3_108403198_T->C 3 108403198 108403198 T C snp 1673.77 0/1 99 155 84 71 0.46 intronic rs12635729 DZIP3 AU NM_014648 exon27 c.78935+10T>C 0.206869 0.5198 0.103568 0.1542 0.5435 Uncertain 3_108474507_T->C 3 108474507 108474507 T C snp 1712.77 1/1 99 56 0 56 1.0 UTR3 rs1374821 RETNLB AU 0.421126 0.9464 Uncertain 3_108474567_G->T 3 108474567 108474567 G T snp 847.77 0/1 99 103 66 37 0.36 UTR3 rs75657243 RETNLB AU 0.184505 0.499 Uncertain 3_108549720_T->G 3 108549720 108549720 T G snp 307.77 0/1 99 33 22 11 0.33 intronic rs2290055 TRAT1 AU NM_016388 exon2 c.7853+93T>G 0.332468 0.5863 Uncertain 3_108557820_T->C 3 108557820 108557820 T C snp 2597.77 1/1 99 95 0 95 1.0 splicing rs7651205 TRAT1 AU NM_016388 exon3 c.16040+6T>C 0.490615 0.8839 0.380363 0.5256 0.8783 Pathogenic 3_108565815_T->C 3 108565815 108565815 T C snp 1020.77 1/1 75 35 0 35 1.0 intronic rs2593831 TRAT1 AU NM_016388 exon4 c.24140-99T>C 0.91873 0.997 Uncertain 3_108567923_G->A 3 108567923 108567923 G A snp 937.77 1/1 69 26 0 26 1.0 intronic rs2715716 TRAT1 AU NM_016388 exon5 c.26238-89G>A 0.657748 0.9097 Uncertain 3_108639270_C->T 3 108639270 108639270 C T snp 481.77 0/1 99 47 26 21 0.45 intronic rs6791441 GUCA1C AU NM_005459 exon3 c.12414-12C>T 0.319688 0.25 0.356176 0.3137 0.2296 Uncertain 3_108639384_T->C 3 108639384 108639384 T C snp 163.77 0/1 99 35 26 9 0.26 exonic rs6804162 GUCA1C AU nonsynonymous SNV NM_005459 exon2 c.A253G p.M85V 0.337061 0.25 0.377327 0.3422 0.2302 0.91 T 0.0 P -0.931 T 0.0 T 0.0 T Pathogenic 3_108639423_C->T 3 108639423 108639423 C T snp 169.77 0/1 99 28 20 8 0.29 exonic rs2715687 GUCA1C AU nonsynonymous SNV NM_005459 exon2 c.G214A p.V72I 0.621605 0.379 0.704185 0.6688 0.3397 1 T 0.000 P -0.918 T 0.0 T 0.0 T Pathogenic 3_108698627_G->A 3 108698627 108698627 G A snp 372.77 0/1 99 30 17 13 0.43 intronic rs2953338 MORC1 AU NM_014429 exon5 c.20703+113G>A 0.63139 0.3611 Uncertain 3_108703422_A->G 3 108703422 108703422 A G snp 507.77 1/1 39 15 0 15 1.0 intronic rs1868195 MORC1 AU NM_014429 exon6 c.25751-140A>G 0.945487 0.999 Uncertain 3_108703587_C->T 3 108703587 108703587 C T snp 1385.77 0/1 99 116 55 61 0.53 exonic rs2290057 MORC1 AU nonsynonymous SNV NM_014429 exon23 c.G2300A p.S767N 0.273363 0.6399 0.140572 0.2495 0.6843 1 T 0.0 P -1.004 T 0.0 T 0.0 T Pathogenic 3_108705715_-->T 3 108705715 108705715 - T indel 375.73 0/1 99 30 12 18 0.6 intronic rs11433147 MORC1 AU NM_014429 exon7 c.27915-11insT 0.603035 0.3532 0.6830 0.3951 Uncertain 3_108719709_G->T 3 108719709 108719709 G T snp 174.9 1/1 15 5 0 5 1.0 intronic MORC1 AU NM_014429 exon8 c.41694+204G>T Uncertain 3_108725694_C->T 3 108725694 108725694 C T snp 136.03 1/1 12 4 0 4 1.0 intronic rs2044586 MORC1 AU NM_014429 exon11 c.48064-181C>T 0.901757 1 Uncertain 3_108754059_C->T 3 108754059 108754059 C T snp 176.9 1/1 15 5 0 5 1.0 intronic rs4855575 MORC1 AU NM_014429 exon14 c.76375-127C>T 0.901757 1 Uncertain 3_108754238_A->T 3 108754238 108754238 A T snp 1843.77 1/1 99 78 0 78 1.0 exonic rs4855576 MORC1 AU nonsynonymous SNV NM_014429 exon15 c.T1408A p.F470I 0.888179 1 0.884899 0.9548 1 0.55 T 0.0 P -1.029 T 0.0 T 0.0 T Pathogenic 3_108754320_-->AA 3 108754320 108754320 - AA indel 359.73 1/1 33 16 0 16 1.0 splicing rs36119926 MORC1 AU NM_014429 exon14 c.76504+5insAA 0.6521 0.8204 Pathogenic 3_108754347_A->- 3 108754347 108754347 A - indel 155.8 1/1 18 7 0 7 1.0 intronic rs35736028 MORC1 AU NM_014429 exon14 c.76504+32delA 0.438102 0.4259 0.8386 Uncertain 3_108776343_C->T 3 108776343 108776343 C T snp 2173.77 1/1 99 74 0 74 1.0 intronic rs1031252 MORC1 AU NM_014429 exon16 c.98522+10C>T 0.888379 1 0.884976 0.9554 0.9999 Uncertain 3_108782160_T->C 3 108782160 108782160 T C snp 301.78 1/1 24 9 0 9 1.0 intronic rs895738 MORC1 AU NM_014429 exon19 c.104267+82T>C 0.518371 0.878 Uncertain 3_108788461_T->C 3 108788461 108788461 T C snp 561.77 0/1 99 61 33 28 0.46 intronic rs2305238 MORC1 AU NM_014429 exon20 c.110667-17T>C 0.397764 0.6954 0.301015 0.4129 0.7434 Uncertain 3_108812100_C->T 3 108812100 108812100 C T snp 288.78 1/1 24 8 0 8 1.0 intronic rs62274699 MORC1 AU NM_014429 exon21 c.134471-182C>T 0.524161 0.877 Uncertain 3_108829765_C->T 3 108829765 108829765 C T snp 130.03 1/1 12 4 0 4 1.0 intronic rs6437822 MORC1 AU NM_014429 exon26 c.151819+135C>T 0.78155 0.9058 Uncertain 3_108855774_A->G 3 108855774 108855774 A G snp 672.77 1/1 51 27 0 27 1.0 ncRNA_intronic rs1356071 FLJ22763 AU 0.998403 1 0.9987 1 Uncertain 3_108855801_T->A 3 108855801 108855801 T A snp 616.77 1/1 45 23 0 23 1.0 ncRNA_intronic rs1356072 FLJ22763 AU 0.798522 0.9018 Uncertain 3_108867128_A->G 3 108867128 108867128 A G snp 4339.77 1/1 99 164 0 164 1.0 ncRNA_exonic rs4855697 FLJ22763 AU 0.477236 0.8363 0.4744 0.8883 Uncertain 3_109019435_G->A 3 109019435 109019435 G A snp 592.77 1/1 45 16 0 16 1.0 intronic rs9865540 DPPA2 AU NM_138815 exon2 c.43+153G>A 0.686302 0.9077 Uncertain 3_109027157_C->T 3 109027157 109027157 C T snp 4490.77 1/1 99 154 0 154 1.0 intronic rs7611135 DPPA2 AU NM_138815 exon4 c.7901+17C>T 0.765575 0.9097 0.704521 0.7561 0.9052 Uncertain 3_109027820_G->A 3 109027820 109027820 G A snp 1173.77 1/1 87 35 0 35 1.0 intronic rs7611871 DPPA2 AU NM_138815 exon5 c.8633-52G>A 0.656949 0.9038 0.585414 Uncertain 3_109049181_A->- 3 109049181 109049181 A - indel 212.74 1/1 27 9 0 9 1.0 intronic rs5851663 DPPA4 AU NM_018189 exon3 c.2536-189delA 0.6224 0.8889 Uncertain 3_109050980_T->C 3 109050980 109050980 T C snp 344.78 1/1 27 10 0 10 1.0 intronic rs1163438 DPPA4 AU NM_018189 exon5 c.4044+102T>C 0.886182 0.999 Uncertain 3_109052732_T->C 3 109052732 109052732 T C snp 1745.77 0/1 99 146 71 75 0.51 exonic rs3762648 DPPA4 AU nonsynonymous SNV NM_018189 exon2 c.A163G p.I55V 0.484026 0.751 0.394203 0.4934 0.7267 0.0 P -1.015 T 0.0 T 0.001 T Pathogenic 3_109052934_G->A 3 109052934 109052934 G A snp 409.77 0/1 99 36 18 18 0.5 intronic rs7642495 DPPA4 AU NM_018189 exon6 c.6006+94G>A 0.483826 0.751 Uncertain 3_109053031_A->T 3 109053031 109053031 A T snp 56.74 1/1 6 2 0 2 1.0 intronic rs2625594 DPPA4 AU NM_018189 exon6 c.6006+191A>T 1 1 Uncertain 3_109056183_A->T 3 109056183 109056183 A T snp 561.77 0/1 99 40 18 22 0.55 intronic rs9836011 DPPA4 AU NM_018189 exon7 c.9476-127A>T 0.441893 0.75 Uncertain 3_109056278_G->C 3 109056278 109056278 G C snp 1297.77 0/1 99 147 88 59 0.4 intronic rs3749235 DPPA4 AU NM_018189 exon7 c.9476-32G>C 0.0413339 0.1022 0.009765 0.0183 0.1061 Uncertain 3_109178707_C->G 3 109178707 109178707 C G snp 986.77 1/1 72 39 0 39 1.0 ncRNA_intronic rs769534 LINC01205 AU 0.677117 0.9008 0.586728 0.6493 0.8883 Uncertain 3_109178758_C->T 3 109178758 109178758 C T snp 545.77 1/1 39 25 0 25 1.0 ncRNA_exonic rs769533 LINC01205 AU 0.997404 1 0.998685 0.9990 1 Uncertain 3_110611137_G->A 3 110611137 110611137 G A snp 4438.77 1/1 99 161 0 161 1.0 intergenic rs1381838 MIR4445 AU 0.999002 1 0.9996 1 1 T -0.950 T Uncertain 3_110611201_C->T 3 110611201 110611201 C T snp 1946.77 0/1 99 183 95 88 0.48 intergenic rs1381837 MIR4445 AU 0.103435 0.375 0.0429 0.3265 0.21 T -0.965 T 0.597 T 0.173 P Uncertain 3_110790879_G->A 3 110790879 110790879 G A snp 346.77 0/1 99 49 33 16 0.33 exonic rs139530035 PVRL3 AU synonymous SNV NM_001243286 exon1 c.G15A p.L5L 0.104433 0.373 0.005496 0.0402 0.4240 1.000 P -0.939 T Likely benign 3_110791113_A->G 3 110791113 110791113 A G snp 421.77 1/1 33 12 0 12 1.0 UTR5 rs4682228 PVRL3 AU 0.973442 1 Uncertain 3_110792906_G->A 3 110792906 110792906 G A snp 1006.77 1/1 75 29 0 29 1.0 intronic rs2399372 PVRL3 AU NM_001243288 exon1 c.91+1549G>A 0.939896 1 Uncertain 3_110830747_TGTGTGTGTG->- 3 110830747 110830756 TGTGTGTGTG - indel 1263.73 1/1 45 15 0 15 1.0 intronic rs753797487 PVRL3 AU NM_001243288 exon2 c.39610-129_39610-120delTGTGTGTGTG Uncertain 3_110863855_A->C 3 110863855 110863855 A C snp 6524.77 1/1 99 241 3 238 0.99 exonic rs3733174 PVRL3 AU synonymous SNV NM_001243288 exon6 c.A1110C p.R370R 0.0640974 0.1925 0.0208 0.2430 Uncertain 3_110863977_G->A 3 110863977 110863977 G A snp 1439.77 1/1 69 47 1 46 0.98 intronic rs3733175 PVRL3 AU NM_001243288 exon6 c.72618+93G>A 0.105431 0.1925 Uncertain 3_110866437_G->A 3 110866437 110866437 G A snp 1299.77 1/1 96 40 0 40 1.0 intronic rs62273799 PVRL3 AU NM_001243288 exon7 c.75065+106G>A 0.99401 1 Uncertain 3_110911084_G->- 3 110911084 110911084 G - indel 2959.73 1/1 99 66 0 66 1.0 intronic rs137968265 PVRL3 AU NM_001243288 exon8 c.119931-113delG 0.0499201 0.1895 Uncertain 3_110911976_G->A 3 110911976 110911976 G A snp 1622.77 1/1 99 48 0 48 1.0 intronic rs6804912 PVRL3 AU NM_001243288 exon9 c.120780-70G>A 0.127596 0.1895 Uncertain 3_111260975_C->T 3 111260975 111260975 C T snp 2966.77 1/1 99 102 0 102 1.0 UTR5 rs2276873 CD96 AR 0.458866 0.4831 Uncertain 3_111261242_-->CTGCTGAAATTGATCACCA 3 111261242 111261242 - CTGCTGAAATTGATCACCA indel 11708.7 1/1 99 84 0 84 1.0 intronic rs3832264 CD96 AR NM_005816 exon1 c.61+86insCTGCTGAAATTGATCACCA 0.458866 0.4831 Uncertain 3_111356083_G->C 3 111356083 111356083 G C snp 2748.77 1/1 99 107 0 107 1.0 exonic rs1533270 CD96 AR synonymous SNV NM_198196 exon12 c.G1410C p.P470P 0.996605 1 0.995387 0.9988 1 Uncertain 3_111451603_G->C 3 111451603 111451603 G C snp 902.77 1/1 66 33 0 33 1.0 intronic rs3821919 PHLDB2 AU 0.746406 0.9226 Uncertain 3_111604541_G->C 3 111604541 111604541 G C snp 1686.77 1/1 99 55 0 55 1.0 intronic rs1283007 PHLDB2 AU NM_001134439 exon2 c.1335+282G>C 0.850639 1 Uncertain 3_111637816_A->G 3 111637816 111637816 A G snp 697.77 0/1 99 42 18 24 0.57 intronic rs16858868 PHLDB2 AU NM_001134439 exon4 c.34994-102A>G 0.338458 0.6706 Uncertain 3_111637904_G->A 3 111637904 111637904 G A snp 2082.77 0/1 99 161 69 92 0.57 intronic rs2399399 PHLDB2 AU NM_001134439 exon4 c.34994-14G>A 0.835663 0.9077 0.863371 0.8648 0.9067 Uncertain 3_111638132_A->C 3 111638132 111638132 A C snp 37.77 0/1 66 7 4 3 0.43 intronic rs951660 PHLDB2 AU NM_001134439 exon4 c.35138+70A>C 0.835863 0.9077 Uncertain 3_111638952_C->T 3 111638952 111638952 C T snp 326.77 0/1 99 23 10 13 0.57 intronic rs6779756 PHLDB2 AU NM_001134439 exon5 c.36204-176C>T 0.835663 0.9077 Uncertain 3_111639353_G->T 3 111639353 111639353 G T snp 83.77 0/1 67 5 2 3 0.6 intronic rs937551 PHLDB2 AU NM_001134439 exon5 c.36342+87G>T 0.84405 0.9077 Uncertain 3_111658290_T->G 3 111658290 111658290 T G snp 2083.77 1/1 99 73 1 72 0.99 intronic rs712509 PHLDB2 AU NM_001134439 exon7 c.55397-31T>G 0.613019 0.7659 0.491158 0.5118 0.7370 Uncertain 3_111658486_T->G 3 111658486 111658486 T G snp 3602.77 1/1 99 133 0 133 1.0 intronic rs712510 PHLDB2 AU NM_001134439 exon7 c.55553+9T>G 0.990415 1 0.990312 0.9970 1 Uncertain 3_111659377_T->C 3 111659377 111659377 T C snp 2873.77 1/1 99 108 0 108 1.0 splicing rs698358 PHLDB2 AU NM_001134439 exon8 c.56457-4T>C 0.990415 1 0.990311 0.9970 1 Pathogenic 3_111677526_G->A 3 111677526 111677526 G A snp 1742.77 0/1 99 130 51 79 0.61 intronic rs11713044 PHLDB2 AU NM_001134439 exon13 c.78030-3428G>A 0.63099 0.9067 0.6855 0.8939 Uncertain 3_111681335_T->C 3 111681335 111681335 T C snp 182.9 1/1 15 5 0 5 1.0 intronic rs698360 PHLDB2 AU NM_001134439 exon13 c.78235+176T>C 0.600439 0.7143 Uncertain 3_111685328_T->C 3 111685328 111685328 T C snp 518.77 1/1 39 13 0 13 1.0 intronic rs774859 PHLDB2 AU NM_001134439 exon14 c.82535-131T>C 0.998802 1 Uncertain 3_111685371_-->GG 3 111685371 111685371 - GG indel 689.73 0/1 99 42 21 21 0.5 intronic rs766446456 PHLDB2 AU NM_001134439 exon14 c.82535-88insGG Uncertain 3_111685375_GT->- 3 111685375 111685376 GT - indel 665.73 0/1 99 50 27 23 0.46 intronic rs146131500 PHLDB2 AU NM_001134439 exon14 c.82535-84_82535-83delGT 0.335463 0.6042 Uncertain 3_111686738_G->A 3 111686738 111686738 G A snp 1288.77 1/1 93 43 0 43 1.0 intronic rs799570 PHLDB2 AU NM_001134439 exon15 c.83747+67G>A 0.858427 0.998 Uncertain 3_111692693_A->G 3 111692693 111692693 A G snp 1169.77 0/1 99 81 29 52 0.64 intronic rs2895388 PHLDB2 AU NM_001134439 exon17 c.89740+29A>G 0.174521 0.1151 0.202157 0.1933 0.1266 Uncertain 3_111692829_C->T 3 111692829 111692829 C T snp 222.84 1/1 18 6 0 6 1.0 intronic rs774852 PHLDB2 AU NM_001134439 exon17 c.89740+165C>T 0.871805 0.7927 Uncertain 3_111697867_T->C 3 111697867 111697867 T C snp 826.77 0/1 99 61 28 33 0.54 UTR5 rs2289598 ABHD10 AU 0.172724 0.1141 0.201553 0.1932 0.1256 Uncertain 3_111705992_A->G 3 111705992 111705992 A G snp 43.77 0/1 72 6 3 3 0.5 intronic rs3804765 ABHD10 AU NM_001272069 exon4 c.7990+94A>G 0.336861 0.5278 Uncertain 3_111709664_T->C 3 111709664 111709664 T C snp 515.77 0/1 99 55 29 26 0.47 intronic rs7637202 ABHD10 AU NM_001272069 exon5 c.11690+66T>C 0.178914 0.1141 Uncertain 3_111710140_T->G 3 111710140 111710140 T G snp 270.77 0/1 99 15 6 9 0.6 intronic rs6795440 ABHD10 AU NM_001272069 exon6 c.12315-83T>G 0.178914 0.1141 Uncertain 3_111710206_T->C 3 111710206 111710206 T C snp 1421.77 0/1 99 97 45 52 0.54 intronic rs6795538 ABHD10 AU NM_001272069 exon6 c.12315-17T>C 0.170527 0.1141 0.217779 0.1953 0.1378 Uncertain 3_111710682_A->C 3 111710682 111710682 A C snp 117.77 0/1 64 6 2 4 0.67 UTR3 rs3749308 ABHD10 AU 0.179313 0.1141 Uncertain 3_111719493_A->G 3 111719493 111719493 A G snp 272.77 0/1 99 23 13 10 0.43 intronic rs774764 TAGLN3 AU NM_013259 exon3 c.1349-125A>G 0.55631 0.5744 Uncertain 3_111730487_T->C 3 111730487 111730487 T C snp 50.74 1/1 6 2 0 2 1.0 intronic rs3749309 TAGLN3 AU NM_013259 exon4 c.12340-122T>C 0.399561 0.3938 Uncertain 3_111730546_G->A 3 111730546 111730546 G A snp 239.77 0/1 99 25 13 12 0.48 intronic rs3749310 TAGLN3 AU NM_013259 exon4 c.12340-63G>A 0.384984 0.3938 Uncertain 3_111730591_G->T 3 111730591 111730591 G T snp 550.77 0/1 99 48 25 23 0.48 intronic rs3749311 TAGLN3 AU NM_013259 exon4 c.12340-18G>T 0.399561 0.3938 0.451715 0.5204 0.4240 Uncertain 3_111730766_G->A 3 111730766 111730766 G A snp 525.77 0/1 99 68 44 24 0.35 intronic rs3828394 TAGLN3 AU NM_013259 exon4 c.12443+54G>A 0.251997 0.3343 Uncertain 3_111732608_G->A 3 111732608 111732608 G A snp 564.77 0/1 99 32 12 20 0.63 UTR3 rs8070 TAGLN3 AU 0.247804 0.3284 0.2745 0.3584 Uncertain 3_111757212_A->G 3 111757212 111757212 A G snp 111.77 0/1 99 18 11 7 0.39 intergenic rs7625876 TAGLN3 AU 0.420927 0.5407 0.4590 0.5055 Uncertain 3_111760771_A->G 3 111760771 111760771 A G snp 2735.77 0/1 99 239 122 117 0.49 UTR5 rs774774 TMPRSS7 AU 0.820288 0.751 0.9011 0.7556 Uncertain 3_111762961_G->A 3 111762961 111762961 G A snp 75.78 0/1 24 4 1 3 0.75 intronic rs7650263 TMPRSS7 AU NM_001042575 exon3 c.2297-140G>A 0.311302 0.4613 Uncertain 3_111763085_C->T 3 111763085 111763085 C T snp 3030.77 1/1 99 100 0 100 1.0 intronic rs4682350 TMPRSS7 AU NM_001042575 exon3 c.2297-16C>T 0.88758 1 0.871879 0.9414 1 Uncertain 3_111763278_G->T 3 111763278 111763278 G T snp 4581.77 1/1 99 158 0 158 1.0 intronic rs7650559 TMPRSS7 AU NM_001042575 exon3 c.2365+109G>T 0.88778 1 Uncertain 3_111765834_G->A 3 111765834 111765834 G A snp 5849.77 1/1 99 227 0 227 1.0 intronic rs1561911 TMPRSS7 AU NM_001042575 exon5 c.5781-751G>A 0.888179 1 0.9632 1 Uncertain 3_111766215_A->G 3 111766215 111766215 A G snp 5039.77 1/1 99 177 0 177 1.0 intronic rs1318554 TMPRSS7 AU NM_001042575 exon5 c.5781-370A>G 0.888379 1 0.9638 1 Uncertain 3_111766559_T->G 3 111766559 111766559 T G snp 823.77 1/1 60 28 0 28 1.0 intronic rs1688304 TMPRSS7 AU NM_001042575 exon5 c.5781-26T>G 0.915335 1 0.893780 0.9537 1 Uncertain 3_111766749_C->- 3 111766749 111766749 C - indel 2385.73 0/1 99 129 64 65 0.5 exonic rs144239192 TMPRSS7 AU frameshift deletion NM_001042575 exon5 c.516delC p.N172fs 0.00599042 0.0298 0.000247 0.0034 0.0435 Pathogenic 3_111785208_G->A 3 111785208 111785208 G A snp 1240.77 0/1 99 102 47 55 0.54 intronic rs11715561 TMPRSS7 AU NM_001042575 exon11 c.24434-30G>A 0.485224 0.5268 0.509333 0.5653 0.5195 Uncertain 3_111793316_G->T 3 111793316 111793316 G T snp 1020.77 0/1 99 95 51 44 0.46 intronic rs191454 TMPRSS7 AU NM_001042575 exon12 c.32455+57G>T 0.601438 0.6022 Uncertain 3_111794365_A->G 3 111794365 111794365 A G snp 353.77 0/1 99 32 18 14 0.44 intronic rs1907639 TMPRSS7 AU NM_001042575 exon13 c.33535+26A>G 0.516374 0.5278 0.540108 0.5697 0.5206 Uncertain 3_111795910_A->G 3 111795910 111795910 A G snp 1530.77 0/1 99 118 61 57 0.48 exonic rs201234857 TMPRSS7 AU nonsynonymous SNV NM_001042575 exon14 c.A1765G p.I589V 0.000399361 0.002 0.0003 0.0044 0.77 T 0.992 D -0.940 T 0.449 T 0.095 P Pathogenic 3_111799845_A->T 3 111799845 111799845 A T snp 5669.77 1/1 99 220 0 220 1.0 exonic rs340151 TMPRSS7 AU nonsynonymous SNV NM_001042575 exon16 c.A2068T p.S690C 0.909944 0.9861 0.904214 0.9442 0.9854 1 T 0.001 P -0.939 T 0.0 T 0.0 T Pathogenic 3_111805438_-->T 3 111805438 111805438 - T indel 2959.73 1/1 99 71 0 71 1.0 intronic rs3833596 C3orf52 AU NM_024616 exon1 c.138+46insT 0.645698 0.7425 0.8990 Uncertain 3_111828423_G->A 3 111828423 111828423 G A snp 5156.77 1/1 99 191 0 191 1.0 exonic rs340167 C3orf52 AU nonsynonymous SNV NM_024616 exon4 c.G430A p.G144S 0.976837 1 0.975070 0.9932 1 0.72 T 1.000 P -1.024 T 0.0 T 0.0 T Pathogenic 3_111838204_AA->- 3 111838204 111838205 AA - indel 1200.73 0/1 99 53 27 26 0.49 intergenic rs35833422 C3orf52 AU 0.178315 0.1488 Uncertain 3_111843883_T->C 3 111843883 111843883 T C snp 824.77 1/1 60 25 0 25 1.0 intronic rs923745 GCSAM AU NM_152785 exon2 c.1771-189T>C 0.543331 0.7331 Uncertain 3_111849167_T->C 3 111849167 111849167 T C snp 396.74 0/1 6 13 1 12 0.92 intronic rs4276157 GCSAM AU NM_152785 exon5 c.6990-124T>C 0.736222 0.7917 Uncertain 3_111851817_C->T 3 111851817 111851817 C T snp 1111.77 1/1 81 40 0 40 1.0 intronic rs950528 GCSAM AU NM_152785 exon6 c.9637-121C>T 0.409145 0.4236 Uncertain 3_111851890_A->G 3 111851890 111851890 A G snp 2777.77 1/1 99 101 0 101 1.0 intronic rs879652 GCSAM AU NM_152785 exon6 c.9637-48A>G 0.313698 0.4048 0.295556 0.3528 0.4061 Uncertain 3_111860222_A->G 3 111860222 111860222 A G snp 463.77 1/1 36 13 0 13 1.0 intronic rs1492480 SLC9C1 AU NM_183061 exon1 c.10+94A>G 0.413938 0.4226 0.367441 Uncertain 3_111866295_C->T 3 111866295 111866295 C T snp 2433.77 0/1 99 208 99 109 0.52 intronic rs78511788 SLC9C1 AU NM_183061 exon2 c.10585-4408C>T 0.0495208 0.124 Uncertain 3_111870228_C->T 3 111870228 111870228 C T snp 5104.77 1/1 99 195 0 195 1.0 intronic rs6781137 SLC9C1 AU NM_183061 exon2 c.10585-475C>T 0.313099 0.4335 0.297698 0.3349 0.4159 Uncertain 3_111873902_-->A 3 111873902 111873902 - A indel 418.14 0/1 10 34 4 30 0.88 splicing rs11369523 SLC9C1 AU NM_183061 exon3 c.13778+6insA 0.493211 0.5407 0.4897 0.5123 Pathogenic 3_111885896_A->G 3 111885896 111885896 A G snp 185.9 1/1 15 6 0 6 1.0 intronic rs4682084 SLC9C1 AU NM_183061 exon4 c.25949-171A>G 0.996406 1 Uncertain 3_111904539_C->T 3 111904539 111904539 C T snp 803.77 1/1 63 38 2 36 0.95 intronic rs2399407 SLC9C1 AU NM_183061 exon9 c.40987+3434C>T 0.313698 0.4345 Uncertain 3_111918216_A->G 3 111918216 111918216 A G snp 2363.77 1/1 99 99 0 99 1.0 exonic rs13098660 SLC9C1 AU synonymous SNV NM_183061 exon20 c.T2475C p.F825F 0.843251 0.9891 0.750500 0.7952 0.9888 Uncertain 3_111919761_C->T 3 111919761 111919761 C T snp 99.28 1/1 9 3 0 3 1.0 intronic rs6438037 SLC9C1 AU NM_183061 exon11 c.59491+152C>T 0.828474 0.9891 Uncertain 3_111921225_G->T 3 111921225 111921225 G T snp 511.77 1/1 39 18 0 18 1.0 exonic rs6781844 SLC9C1 AU nonsynonymous SNV NM_183061 exon18 c.C2194A p.Q732K 0.830072 0.9891 0.740268 0.7922 0.9888 0.95 T 0.006 P -0.916 T 0.524 P 0.095 P Pathogenic 3_111923047_G->A 3 111923047 111923047 G A snp 473.77 1/1 36 12 0 12 1.0 intronic rs4422273 SLC9C1 AU NM_183061 exon13 c.62946-17G>A 0.830272 0.9891 0.739272 0.7944 0.9882 Uncertain 3_111923123_G->A 3 111923123 111923123 G A snp 2159.77 1/1 99 74 0 74 1.0 exonic rs4434123 SLC9C1 AU nonsynonymous SNV NM_183061 exon17 c.C2114T p.T705I 0.830272 0.9891 0.740407 0.7925 0.9887 1 T 0.0 P -0.927 T 0.001 T 0.002 T Pathogenic 3_111936118_A->G 3 111936118 111936118 A G snp 205.84 1/1 18 7 0 7 1.0 intronic rs11921877 SLC9C1 AU NM_183061 exon15 c.76170-170A>G 0.841454 0.9891 Uncertain 3_111936200_C->A 3 111936200 111936200 C A snp 1148.77 1/1 84 35 0 35 1.0 intronic rs1388857 SLC9C1 AU NM_183061 exon15 c.76170-88C>A 0.828474 0.9891 Uncertain 3_111936491_A->G 3 111936491 111936491 A G snp 139.03 1/1 12 4 0 4 1.0 intronic rs9288939 SLC9C1 AU NM_183061 exon15 c.76290+83A>G 0.830272 0.9891 Uncertain 3_111950383_TTG->- 3 111950383 111950385 TTG - indel 579.73 0/1 99 17 5 12 0.71 intronic rs144475498 SLC9C1 AU NM_183061 exon17 c.90215+50_90215+52delTTG 0.0505192 0.122 0.011577 0.0408 0.1229 Uncertain 3_111958679_T->C 3 111958679 111958679 T C snp 1102.77 1/1 81 40 1 39 0.97 intronic rs13065023 SLC9C1 AU NM_183061 exon18 c.98568-7T>C 0.313898 0.4345 0.285528 0.3499 0.4275 Uncertain 3_111958862_C->A 3 111958862 111958862 C A snp 1476.77 1/1 99 50 0 50 1.0 intronic rs13089635 SLC9C1 AU NM_183061 exon18 c.98735+9C>A 0.313898 0.4345 0.284945 0.3345 0.4160 Uncertain 3_111962774_T->C 3 111962774 111962774 T C snp 1425.77 1/1 99 51 0 51 1.0 intronic rs13089316 SLC9C1 AU NM_183061 exon19 c.102723-67T>C 0.313898 0.4345 Uncertain 3_111981704_C->T 3 111981704 111981704 C T snp 178.9 1/1 15 5 0 5 1.0 intronic rs5003791 SLC9C1 AU NM_183061 exon20 c.121652-66C>T 0.642572 0.7738 Uncertain 3_111981849_C->T 3 111981849 111981849 C T snp 4118.77 1/1 99 171 1 170 0.99 exonic rs9860819 SLC9C1 AU synonymous SNV NM_183061 exon10 c.G1119A p.K373K 0.642971 0.7738 0.579656 0.6359 0.7974 Uncertain 3_111981878_T->C 3 111981878 111981878 T C snp 4316.77 1/1 99 172 1 171 0.99 exonic rs9809384 SLC9C1 AU nonsynonymous SNV NM_183061 exon10 c.A1090G p.I364V 0.642971 0.7738 0.580117 0.6360 0.7974 0.25 T 0.000 P -1.066 T 0.0 T 0.0 T Pathogenic 3_111981924_T->C 3 111981924 111981924 T C snp 3440.77 1/1 99 136 0 136 1.0 exonic rs9809404 SLC9C1 AU nonsynonymous SNV NM_183061 exon10 c.A1044G p.I348M 0.642971 0.7738 0.580194 0.6359 0.7975 0.4 T 0.0 P -1.061 T 0.0 T 0.001 T Pathogenic 3_111983197_C->T 3 111983197 111983197 C T snp 142.03 1/1 12 7 0 7 1.0 intronic rs6788397 SLC9C1 AU NM_183061 exon21 c.123072+7C>T 0.643171 0.7738 0.582665 0.6524 0.7974 Uncertain 3_111984970_T->C 3 111984970 111984970 T C snp 56.74 1/1 6 2 0 2 1.0 intronic rs4682098 SLC9C1 AU NM_183061 exon22 c.124966-114T>C 0.997204 1 Uncertain 3_111985048_G->A 3 111985048 111985048 G A snp 359.78 1/1 27 15 0 15 1.0 intronic rs4682099 SLC9C1 AU NM_183061 exon22 c.124966-36G>A 0.313898 0.4345 0.285439 0.3332 0.4157 Uncertain 3_111988992_T->G 3 111988992 111988992 T G snp 881.77 1/1 66 29 0 29 1.0 intronic rs13069541 SLC9C1 AU NM_183061 exon23 c.128806+68T>G 0.313898 0.4345 Uncertain 3_111993716_G->A 3 111993716 111993716 G A snp 104.28 1/1 9 5 0 5 1.0 intronic rs6805112 SLC9C1 AU NM_183061 exon24 c.133625-27G>A 0.846845 0.9891 0.757831 0.7955 0.9883 Uncertain 3_111993915_A->G 3 111993915 111993915 A G snp 256.8 1/1 21 7 0 7 1.0 intronic rs4682100 SLC9C1 AU NM_183061 exon24 c.133754+43A>G 0.309305 0.4345 0.277708 0.3301 0.4166 Uncertain 3_111999736_-->CTTGTTTTCT 3 111999736 111999736 - CTTGTTTTCT indel 2054.73 1/1 51 17 0 17 1.0 intronic rs147052896 SLC9C1 AU NM_183061 exon27 c.139512+106insCTTGTTTTCT 0.629593 0.7748 Uncertain 3_112005423_T->C 3 112005423 112005423 T C snp 230.84 1/1 18 9 0 9 1.0 intronic rs7621431 SLC9C1 AU NM_183061 exon28 c.145432-127T>C 0.771965 0.997 Uncertain 3_112005691_C->G 3 112005691 112005691 C G snp 456.77 0/1 81 21 4 17 0.81 UTR5 rs79950192 SLC9C1 AU 0.115815 0.2143 0.084575 Uncertain 3_112052173_T->C 3 112052173 112052173 T C snp 2141.77 1/1 99 83 0 83 1.0 intronic rs9883527 CD200 AU NM_005944 exon1 c.12+102T>C 0.965056 1 Uncertain 3_112059768_C->G 3 112059768 112059768 C G snp 2338.77 1/1 99 79 0 79 1.0 exonic rs1131199 CD200 AU nonsynonymous SNV NM_005944 exon2 c.C32G p.S11C 0.660343 0.7063 0.610718 0.5991 0.7300 1 T 0.999 P -0.973 T 0.0 T 0.0 T Pathogenic 3_112063705_T->C 3 112063705 112063705 T C snp 411.77 1/1 33 12 0 12 1.0 intronic rs3817425 CD200 AU NM_005944 exon3 c.11749-103T>C 0.195687 0.255 Uncertain 3_112064263_T->A 3 112064263 112064263 T A snp 556.77 1/1 42 16 0 16 1.0 intronic rs11921546 CD200 AU NM_005944 exon3 c.12076+128T>A 0.199681 0.2669 Uncertain 3_112064266_T->C 3 112064266 112064266 T C snp 516.77 1/1 39 14 0 14 1.0 intronic rs60497880 CD200 AU NM_005944 exon3 c.12076+131T>C 0.159345 0.255 Uncertain 3_112066562_G->A 3 112066562 112066562 G A snp 3750.77 1/1 99 128 0 128 1.0 exonic rs1050572 CD200 AU synonymous SNV NM_005944 exon4 c.G579A p.T193T 0.214058 0.255 0.144241 0.1351 0.2334 Uncertain 3_112068440_C->T 3 112068440 112068440 C T snp 324.78 1/1 27 11 0 11 1.0 intronic rs60377655 CD200 AU NM_005944 exon5 c.16499-118C>T 0.214257 0.255 Uncertain 3_112068494_-->CTATTGCTTTATCA 3 112068494 112068494 - CTATTGCTTTATCA indel 4739.73 1/1 84 28 0 28 1.0 intronic rs150687436 CD200 AU NM_005944 exon5 c.16499-64insCTATTGCTTTATCA 0.213858 0.255 Uncertain 3_112068517_C->T 3 112068517 112068517 C T snp 1931.77 1/1 99 72 2 70 0.97 intronic rs57404826 CD200 AU NM_005944 exon5 c.16499-41C>T 0.190895 0.255 0.116792 0.1305 0.2361 Uncertain 3_112184927_A->G 3 112184927 112184927 A G snp 4392.77 1/1 99 151 0 151 1.0 UTR3 rs2171513 BTLA AU 0.684305 0.7847 0.756728 0.8571 0.8018 Uncertain 3_112185025_G->A 3 112185025 112185025 G A snp 6376.77 1/1 99 231 0 231 1.0 exonic rs9288952 BTLA AU nonsynonymous SNV NM_181780 exon5 c.C800T p.P267L 0.644569 0.7212 0.733661 0.8330 0.7280 0.56 T 0.0 P -1.024 T 0.0 T 0.0 T Pathogenic 3_112190137_G->T 3 112190137 112190137 G T snp 5298.77 1/1 99 199 0 199 1.0 exonic rs2931761 BTLA AU nonsynonymous SNV NM_181780 exon3 c.C469A p.R157S 0.988219 0.994 0.990620 0.9969 0.9949 0.44 T 0.000 P -1.002 T 0.0 T 0.0 T Pathogenic 3_112253058_-->A 3 112253058 112253058 - A indel 1122.73 0/1 99 107 54 53 0.5 exonic rs35560667 ATG3 AU frameshift insertion NM_001278712 exon11 c.920dupT p.L307fs 0.583866 0.6627 0.601022 0.5882 0.5449 Pathogenic 3_112253193_C->A 3 112253193 112253193 C A snp 171.77 0/1 99 103 86 17 0.17 intronic rs201448805 ATG3 AU NM_001278712 exon1 c.142+9C>A Uncertain 3_112253193_-->A 3 112253193 112253193 - A indel 787.73 0/1 99 103 26 77 0.75 intronic rs11381118 ATG3 AU NM_001278712 exon1 c.142+9insA 0.385783 0.4474 0.4463 0.4364 Uncertain 3_112267269_T->C 3 112267269 112267269 T C snp 393.77 1/1 30 11 0 11 1.0 intronic rs7625366 ATG3 AU NM_001278712 exon7 c.14337-110T>C 0.672125 0.7411 Uncertain 3_112267523_G->A 3 112267523 112267523 G A snp 4227.77 1/1 99 149 0 149 1.0 intronic rs9809247 ATG3 AU NM_001278712 exon7 c.14445+36G>A 0.671925 0.7411 0.726818 0.8197 0.7501 Uncertain 3_112269287_A->G 3 112269287 112269287 A G snp 93.28 1/1 9 3 0 3 1.0 intronic rs2705520 ATG3 AU NM_001278712 exon8 c.16067+178A>G 0.979633 0.9861 Uncertain 3_112280218_G->A 3 112280218 112280218 G A snp 2389.77 1/1 99 76 0 76 1.0 intronic rs2279532 ATG3 AU NM_001278712 exon11 c.27261-85G>A 0.664537 0.7371 Uncertain 3_112289320_G->A 3 112289320 112289320 G A snp 881.77 1/1 66 29 0 29 1.0 intronic rs9869455 SLC35A5 AU NM_017945 exon4 c.7136-66G>A 0.670727 0.7391 Uncertain 3_112289372_G->A 3 112289372 112289372 G A snp 1771.77 1/1 99 60 0 60 1.0 intronic rs9869579 SLC35A5 AU NM_017945 exon4 c.7136-14G>A 0.670527 0.7381 0.726511 0.8174 0.7422 Uncertain 3_112301458_-->CTTAGTAAT 3 112301458 112301458 - CTTAGTAAT indel 6089.73 1/1 99 52 0 52 1.0 intronic rs5851844 SLC35A5 AU NM_017945 exon7 c.19267-59insCTTAGTAAT 0.977436 0.9871 Uncertain 3_112338027_T->C 3 112338027 112338027 T C snp 1377.77 1/1 99 45 0 45 1.0 intronic rs13084615 CCDC80 AU NM_199512 exon5 c.13688+76T>C 0.715855 0.8046 Uncertain 3_112356770_T->C 3 112356770 112356770 T C snp 88.28 1/1 9 3 0 3 1.0 intronic rs2279531 CCDC80 AU NM_199512 exon7 c.32611-104T>C 0.711661 0.8581 Uncertain 3_112538572_T->- 3 112538572 112538572 T - indel 286.73 0/1 99 24 10 14 0.58 intronic rs35585943 CD200R1L AU NM_001199215 exon2 c.3809-46delT 0.60603 0.6915 0.664999 0.7188 0.6991 Uncertain 3_112556904_C->G 3 112556904 112556904 C G snp 314.77 0/1 99 23 10 13 0.57 intronic rs6795521 CD200R1L AU NM_001199215 exon6 c.22048+47C>G 0.388179 0.3075 0.3502 0.2959 Uncertain 3_112556946_A->G 3 112556946 112556946 A G snp 82.77 0/1 99 9 3 6 0.67 intronic rs6770923 CD200R1L AU NM_001199215 exon6 c.22048+89A>G 0.387979 0.3075 Uncertain 3_112564605_A->G 3 112564605 112564605 A G snp 1071.77 0/1 99 97 47 50 0.52 UTR5 rs61674636 CD200R1L AU 0.0457268 0.1954 0.006067 0.0204 0.1714 Uncertain 3_112642568_C->G 3 112642568 112642568 C G snp 783.77 0/1 99 103 65 38 0.37 exonic rs9865242 CD200R1 AU nonsynonymous SNV NM_170780 exon7 c.G934C p.E312Q 0.651158 0.7024 0.583961 0.5704 0.6792 1 T 0.0 P -0.967 T 0.0 T 0.0 T Pathogenic 3_112642572_T->C 3 112642572 112642572 T C snp 767.77 0/1 99 103 66 37 0.36 exonic rs79556290 CD200R1 AU synonymous SNV NM_170780 exon7 c.A930G p.A310A 0.0748802 0.2262 0.031601 0.0525 0.2088 Uncertain 3_112643193_T->C 3 112643193 112643193 T C snp 372.77 0/1 99 38 22 16 0.42 intronic rs77561169 CD200R1 AU NM_170780 exon2 c.813-143T>C 0.0832668 0.2272 Uncertain 3_112643403_G->T 3 112643403 112643403 G T snp 83.77 0/1 74 7 4 3 0.43 intronic rs72491120 CD200R1 AU NM_170780 exon2 c.859+21G>T 0.0832668 0.2272 0.022510 0.0734 0.2236 Uncertain 3_112643952_C->T 3 112643952 112643952 C T snp 987.77 0/1 99 87 43 44 0.51 exonic rs72491121 CD200R1 AU synonymous SNV NM_170780 exon5 c.G789A p.L263L 0.0832668 0.2272 0.031601 0.0559 0.2098 Uncertain 3_112647832_A->C 3 112647832 112647832 A C snp 786.77 0/1 99 72 39 33 0.46 exonic rs9826308 CD200R1 AU nonsynonymous SNV NM_170780 exon4 c.T531G p.H177Q 0.651558 0.7024 0.583807 0.5713 0.6800 1 T 1.000 P -0.944 T Pathogenic 3_112647988_C->T 3 112647988 112647988 C T snp 1125.77 0/1 99 83 42 41 0.49 UTR3 rs9868053 CD200R1 AU 0.651358 0.7024 0.583577 0.5703 0.6791 Uncertain 3_112648125_G->T 3 112648125 112648125 G T snp 2450.77 0/1 99 227 121 106 0.47 exonic rs6438117 CD200R1 AU synonymous SNV NM_138940 exon3 c.C363A p.T121T 0.651358 0.7024 0.301630 0.5698 0.6789 Uncertain 3_112648127_T->G 3 112648127 112648127 T G snp 2455.77 0/1 99 225 121 104 0.46 exonic rs4596117 CD200R1 AU nonsynonymous SNV NM_138940 exon3 c.A361C p.T121P 0.651358 0.7024 0.281101 0.5699 0.6789 1 T 0.0 P -0.937 T Pathogenic 3_112648222_T->C 3 112648222 112648222 T C snp 1336.77 0/1 99 104 53 51 0.49 exonic rs2171509 CD200R1 AU nonsynonymous SNV NM_138940 exon3 c.A266G p.K89R 0.651358 0.7024 0.583269 0.5702 0.6792 1 T 0.0 P -0.987 T Pathogenic 3_112650106_-->TGAT 3 112650106 112650106 - TGAT indel 330.73 0/1 99 20 8 12 0.6 intronic rs140160094 CD200R1 AU NM_170780 exon6 c.7495+88insTGAT 0.057508 0.2232 Uncertain 3_112666542_T->C 3 112666542 112666542 T C snp 50.74 1/1 6 2 0 2 1.0 intronic rs1392786 CD200R1 AU NM_138939 exon3 c.18713-160T>C 0.675519 0.7093 Uncertain 3_112719792_A->- 3 112719792 112719792 A - indel 243.73 0/1 99 48 12 36 0.75 UTR3 rs200301737 GTPBP8 AU 0.4133 0.3663 Uncertain 3_112732310_T->- 3 112732310 112732310 T - indel 64.73 0/1 35 15 3 12 0.8 intronic rs397689836 C3orf17 AU NM_015412 exon6 c.7868+60delT Uncertain 3_112738287_C->G 3 112738287 112738287 C G snp 931.77 0/1 99 49 18 31 0.63 intronic rs79171566 C3orf17 AU NM_015412 exon9 c.14006-101C>G 0.0113818 0.0546 Uncertain 3_112738302_C->A 3 112738302 112738302 C A snp 940.77 0/1 99 67 30 37 0.55 intronic rs2293559 C3orf17 AU NM_015412 exon9 c.14006-86C>A 0.0397364 0.1855 Uncertain 3_112738644_A->G 3 112738644 112738644 A G snp 280.77 0/1 99 19 10 9 0.47 upstream rs4146774 C3orf17 AU 0.0397364 0.1855 Uncertain 3_112935138_C->G 3 112935138 112935138 C G snp 2029.77 0/1 99 177 86 91 0.51 intronic rs4682130 BOC AU 0.689696 0.6399 0.6503 0.7222 Uncertain 3_112991196_C->G 3 112991196 112991196 C G snp 110.77 0/1 99 19 14 5 0.26 intronic rs3930154 BOC AU NM_033254 exon7 c.22607-60C>G 0.528754 0.5565 Uncertain 3_112991312_C->T 3 112991312 112991312 C T snp 1529.77 0/1 99 192 123 69 0.36 exonic rs3814398 BOC AU synonymous SNV NM_001301861 exon7 c.C723T p.I241I 0.276757 0.3978 0.171767 0.2320 0.4179 Uncertain 3_112991842_A->G 3 112991842 112991842 A G snp 152.77 0/1 99 8 3 5 0.63 intronic rs11717833 BOC AU NM_033254 exon8 c.23266-73A>G 0.298722 0.4107 Uncertain 3_112991959_C->T 3 112991959 112991959 C T snp 547.77 0/1 99 62 36 26 0.42 exonic rs11710894 BOC AU synonymous SNV NM_001301861 exon8 c.C1005T p.P335P 0.298722 0.4107 0.189451 0.2535 0.4268 Uncertain 3_112997141_G->A 3 112997141 112997141 G A snp 785.77 0/1 99 41 14 27 0.66 intronic rs3814401 BOC AU NM_033254 exon10 c.28455+37G>A 0.0419329 0.0397 0.048516 0.0393 0.0521 Uncertain 3_112997554_A->G 3 112997554 112997554 A G snp 4021.77 1/1 99 139 0 139 1.0 exonic rs775228 BOC AU synonymous SNV NM_001301861 exon11 c.A1740G p.K580K 0.620407 0.7183 0.547597 0.5820 0.7529 Uncertain 3_112998090_T->C 3 112998090 112998090 T C snp 615.77 0/1 99 47 24 23 0.49 splicing rs3856720 BOC AU NM_033254 exon12 c.29446-5T>C 0.262181 0.4107 0.151392 0.2458 0.4289 Pathogenic 3_112998265_A->G 3 112998265 112998265 A G snp 2815.77 1/1 99 107 0 107 1.0 exonic rs2649878 BOC AU synonymous SNV NM_001301861 exon12 c.A1986G p.P662P 0.558706 0.6101 0.461710 0.4194 0.6451 Uncertain 3_112999611_A->G 3 112999611 112999611 A G snp 2793.77 1/1 99 84 0 84 1.0 intronic rs775229 BOC AU NM_033254 exon14 c.30861+101A>G 0.618211 0.7202 Uncertain 3_113003273_G->T 3 113003273 113003273 G T snp 2067.77 0/1 99 195 108 87 0.45 exonic rs3814405 BOC AU nonsynonymous SNV NM_001301861 exon17 c.G2748T p.Q916H 0.0419329 0.0397 0.048132 0.0380 0.0509 0.09 T 0.001 P -1.026 T 0.771 T 0.532 P Pathogenic 3_113003595_G->C 3 113003595 113003595 G C snp 1770.77 0/1 99 156 83 73 0.47 intronic rs775222 BOC AU NM_033254 exon18 c.34979-33G>C 0.264976 0.4058 0.157773 0.2447 0.4209 Uncertain 3_113004421_C->T 3 113004421 113004421 C T snp 598.77 0/1 99 59 31 28 0.47 intronic rs16860788 BOC AU NM_033254 exon19 c.35763+9C>T 0.0417332 0.0397 0.047824 0.0463 0.0588 Uncertain 3_113005753_T->A 3 113005753 113005753 T A snp 109.77 0/1 99 13 7 6 0.46 UTR3 rs76380714 BOC AU 0.0493211 0.0437 0.001117 0.0369 0.0367 Uncertain 3_113010303_G->A 3 113010303 113010303 G A snp 221.77 0/1 99 17 10 7 0.41 UTR3 rs17321330 CFAP44 AU 0.369808 0.2976 Uncertain 3_113010466_T->C 3 113010466 113010466 T C snp 1763.77 1/1 99 64 0 64 1.0 exonic rs2291905 CFAP44 AU nonsynonymous SNV NM_001164496 exon35 c.A5503G p.S1835G 0.77496 0.8234 0.7861 0.8413 1 T 1.000 P -1.004 T 0.0 T 0.0 T Pathogenic 3_113012797_G->A 3 113012797 113012797 G A snp 2689.77 1/1 99 100 0 100 1.0 intronic rs810209 CFAP44 AU NM_001164496 exon2 c.3130-736G>A 0.691094 0.7153 Uncertain 3_113012974_A->G 3 113012974 113012974 A G snp 1310.77 1/1 96 45 0 45 1.0 intronic rs775217 CFAP44 AU NM_001164496 exon2 c.3130-559A>G 0.690895 0.7143 Uncertain 3_113013848_-->T 3 113013848 113013848 - T indel 896.73 1/1 66 22 0 22 1.0 intronic rs11398178 CFAP44 AU NM_001164496 exon2 c.3265+180insT 0.691094 0.7143 Uncertain 3_113015436_G->C 3 113015436 113015436 G C snp 1568.77 1/1 99 42 0 42 1.0 intronic rs808949 CFAP44 AU NM_001164496 exon3 c.5168-135G>C 0.691294 0.7153 Uncertain 3_113015553_A->C 3 113015553 113015553 A C snp 7519.77 1/1 99 250 0 250 1.0 intronic rs808950 CFAP44 AU NM_001164496 exon3 c.5168-18A>C 0.725439 0.7153 0.697109 0.7396 0.7122 Uncertain 3_113015660_G->A 3 113015660 113015660 G A snp 2707.77 0/1 99 249 139 110 0.44 exonic rs2270781 CFAP44 AU nonsynonymous SNV NM_001164496 exon33 c.C5150T p.T1717M 0.219649 0.3998 0.154621 0.2321 0.4053 0.11 T 0.417 P -0.899 T 0.95 T 0.381 D Pathogenic 3_113022870_T->C 3 113022870 113022870 T C snp 4604.77 1/1 99 173 0 173 1.0 exonic rs4682484 CFAP44 AU nonsynonymous SNV NM_001164496 exon32 c.A4970G p.H1657R 0.964257 1 0.957950 0.9713 1 0.79 T 0.0 P -0.972 T 0.0 T 0.0 T Pathogenic 3_113022996_G->A 3 113022996 113022996 G A snp 1119.77 1/1 45 38 1 37 0.97 intronic rs2270782 CFAP44 AU NM_001164496 exon4 c.12561+32G>A 0.709465 0.7153 0.685283 0.7356 0.7107 Uncertain 3_113027214_A->C 3 113027214 113027214 A C snp 559.77 1/1 42 16 0 16 1.0 intronic rs775231 CFAP44 AU NM_001164496 exon7 c.16712+99A>C 0.799121 0.878 Uncertain 3_113092197_A->G 3 113092197 113092197 A G snp 574.77 0/1 99 43 18 25 0.58 intronic rs1463640 CFAP44 AU NM_001164496 exon18 c.81854-60A>G 0.388379 0.5605 Uncertain 3_113119301_C->T 3 113119301 113119301 C T snp 70.77 0/1 99 13 9 4 0.31 intronic rs7647220 CFAP44 AU NM_001164496 exon24 c.108988-90C>T 0.439097 0.5248 Uncertain 3_113125966_A->G 3 113125966 113125966 A G snp 594.77 0/1 99 51 27 24 0.47 ncRNA_intronic rs73237123 CFAP44-AS1 AU 0.209065 0.4067 Uncertain 3_113135345_A->C 3 113135345 113135345 A C snp 882.77 0/1 99 79 37 42 0.53 ncRNA_intronic rs12635786 CFAP44-AS1 AU 0.300319 0.5714 0.214231 0.3008 0.5987 Uncertain 3_113145006_C->T 3 113145006 113145006 C T snp 1350.77 0/1 99 111 48 63 0.57 exonic rs73239107 CFAP44 AU synonymous SNV NM_001164496 exon4 c.G372A p.L124L 0.209665 0.4067 0.143472 0.2205 0.4212 Uncertain 3_113146130_T->C 3 113146130 113146130 T C snp 938.77 0/1 99 97 56 41 0.42 exonic rs59722850 CFAP44 AU nonsynonymous SNV NM_001164496 exon3 c.A157G p.K53E 0.272564 0.5129 0.191296 0.2714 0.5414 1 T 1.000 P -0.914 T 0.0 T 0.0 T Pathogenic 3_113152596_T->A 3 113152596 113152596 T A snp 881.77 0/1 99 74 41 33 0.45 ncRNA_intronic rs2291413 CFAP44-AS1 AU 0.253994 0.4653 Uncertain 3_113164109_A->G 3 113164109 113164109 A G snp 495.77 0/1 99 54 35 19 0.35 UTR3 rs2054823 SPICE1 AU 0.583067 0.7093 0.533907 0.5001 0.7087 Uncertain 3_113207758_G->A 3 113207758 113207758 G A snp 678.77 0/1 99 69 39 30 0.43 intronic rs7625841 SPICE1 AU NM_144718 exon12 c.43638-33G>A 0.583267 0.7093 0.538604 0.4979 0.7085 Uncertain 3_113211953_C->T 3 113211953 113211953 C T snp 201.77 0/1 60 9 2 7 0.78 intronic rs3732804 SPICE1 AU NM_144718 exon13 c.47899-99C>T 0.216054 0.4147 Uncertain 3_113233563_C->T 3 113233563 113233563 C T snp 869.77 0/1 99 64 28 36 0.56 intronic rs2306069 SPICE1 AU NM_144718 exon18 c.69590-180C>T 0.213259 0.4147 0.2605 0.3857 Uncertain 3_113285423_T->C 3 113285423 113285423 T C snp 2015.77 0/1 99 152 66 86 0.57 intronic rs2271495 SIDT1 AU NM_017699 exon2 c.33520+35T>C 0.263978 0.5873 0.157312 0.2264 0.5760 Uncertain 3_113286405_C->T 3 113286405 113286405 C T snp 1350.77 0/1 99 125 67 58 0.46 exonic rs2292511 SIDT1 AU synonymous SNV NM_017699 exon3 c.C363T p.N121N 0.322883 0.5873 0.226126 0.2602 0.5758 Uncertain 3_113295893_G->C 3 113295893 113295893 G C snp 1784.77 0/1 99 167 87 80 0.48 intronic rs79832118 SIDT1 AU NM_017699 exon4 c.43946+79G>C 0.0091853 0.0417 ID=COSN166974;OCCURENCE=1(large_intestine) Uncertain 3_113300183_A->T 3 113300183 113300183 A T snp 1606.77 0/1 99 130 63 67 0.52 intronic rs2271494 SIDT1 AU NM_017699 exon6 c.48339-24A>T 0.525759 0.7986 0.454790 0.4638 0.7796 Uncertain 3_113300351_T->G 3 113300351 113300351 T G snp 974.77 0/1 99 73 37 36 0.49 intronic rs9863703 SIDT1 AU NM_017699 exon6 c.48423+60T>G 0.396765 0.7044 0.281209 Uncertain 3_113300390_T->C 3 113300390 113300390 T C snp 526.77 0/1 99 43 22 21 0.49 intronic rs62265520 SIDT1 AU NM_017699 exon6 c.48423+99T>C 0.260184 0.5893 Uncertain 3_113302118_C->T 3 113302118 113302118 C T snp 151.77 0/1 99 14 7 7 0.5 intronic rs62265521 SIDT1 AU NM_017699 exon7 c.50387-137C>T 0.260583 0.5893 Uncertain 3_113302425_G->A 3 113302425 113302425 G A snp 331.77 0/1 99 23 9 14 0.61 intronic rs2271493 SIDT1 AU NM_017699 exon7 c.50475+82G>A 0.319888 0.5893 Uncertain 3_113304171_G->A 3 113304171 113304171 G A snp 1307.77 0/1 99 133 77 56 0.42 intronic rs41271363 SIDT1 AU NM_017699 exon9 c.52249+54G>A 0.322684 0.5893 0.220762 Uncertain 3_113311712_T->C 3 113311712 113311712 T C snp 1240.77 0/1 99 105 54 51 0.49 intronic rs2669907 SIDT1 AU NM_017699 exon10 c.59983-139T>C 0.105232 0.25 Uncertain 3_113313947_C->T 3 113313947 113313947 C T snp 895.77 1/1 66 31 0 31 1.0 intronic rs2614193 SIDT1 AU NM_017699 exon10 c.60027+2052C>T 0.584465 0.5099 Uncertain 3_113314010_C->T 3 113314010 113314010 C T snp 214.84 1/1 18 6 0 6 1.0 intronic rs2614192 SIDT1 AU NM_017699 exon10 c.60027+2115C>T 0.59405 0.5347 Uncertain 3_113334752_A->G 3 113334752 113334752 A G snp 248.77 0/1 99 16 8 8 0.5 intronic rs2271498 SIDT1 AU NM_017699 exon20 c.83078-194A>G 0.334665 0.3056 Uncertain 3_113373930_A->G 3 113373930 113373930 A G snp 7203.77 1/1 99 250 0 250 1.0 exonic rs930818 KIAA2018 AU nonsynonymous SNV NM_001009899 exon7 c.T6599C p.V2200A 0.999002 1 0.998206 0.9994 1 1 T 0.002 P -0.930 T 0.0 T 0.0 T Pathogenic 3_113374633_C->A 3 113374633 113374633 C A snp 1412.77 0/1 99 136 78 58 0.43 exonic rs2290477 KIAA2018 AU nonsynonymous SNV NM_001009899 exon7 c.G5896T p.A1966S 0.0493211 0.0952 0.009756 0.0413 0.1167 0.64 T 0.002 P -0.974 T 0.0 T 0.0 T Pathogenic 3_113376111_TGCTGC->- 3 113376111 113376116 TGCTGC - indel 3149.73 ./1 99 98 0 98 1.0 exonic rs751292894 KIAA2018 AU nonframeshift deletion NM_001009899 exon7 c.4413_4418del p.1471_1473del 0.0664 0.1385 Uncertain 3_113376111_TGC->- 3 113376111 113376113 TGC - indel 3149.73 ./1 99 98 0 98 1.0 exonic rs10606566 KIAA2018 AU nonframeshift deletion NM_001009899 exon7 c.4416_4418del p.1472_1473del 0.4312 0.5685 ID=COSM1484461;OCCURENCE=1(breast) Uncertain 3_113442198_C->A 3 113442198 113442198 C A snp 737.77 1/1 54 27 0 27 1.0 intronic rs3732793 NAA50 AU NM_025146 exon3 c.1662-70C>A 0.292133 0.3304 Uncertain 3_113464859_A->G 3 113464859 113464859 A G snp 3780.77 1/1 99 137 0 137 1.0 UTR5 rs1048892 NAA50 AU 0.295128 0.3542 0.334647 Uncertain 3_113499458_G->A 3 113499458 113499458 G A snp 1245.77 1/1 90 42 0 42 1.0 intronic rs1430944 ATP6V1A AU NM_001690 exon3 c.2296-438G>A 0.998602 1 Uncertain 3_113499733_A->G 3 113499733 113499733 A G snp 773.77 1/1 57 23 0 23 1.0 intronic rs2305545 ATP6V1A AU NM_001690 exon3 c.2296-163A>G 0.31889 0.3542 Uncertain 3_113503354_A->G 3 113503354 113503354 A G snp 533.77 1/1 42 14 0 14 1.0 intronic rs2305546 ATP6V1A AU NM_001690 exon4 c.5685+69A>G 0.33726 0.3611 Uncertain 3_113508499_-->A 3 113508499 113508499 - A indel 122.8 1/1 18 6 0 6 1.0 intronic rs11385012 ATP6V1A AU NM_001690 exon8 c.10978-79insA 0.352436 0.3889 Uncertain 3_113522544_T->C 3 113522544 113522544 T C snp 1766.77 1/1 99 65 1 64 0.98 intronic rs13321446 ATP6V1A AU NM_001690 exon13 c.24924+20T>C 0.302915 0.3472 0.281096 0.3357 0.3719 Uncertain 3_113557788_GCC->- 3 113557788 113557790 GCC - indel 14713.7 1/1 99 248 0 248 1.0 splicing rs372553869 GRAMD1C AU NM_017577 exon1 c.27+5_27+7delGCC 0.970447 1 0.970793 0.9823 0.9993 Pathogenic 3_113563214_G->A 3 113563214 113563214 G A snp 68.77 0/1 97 10 7 3 0.3 intronic rs150038516 GRAMD1C AU NM_017577 exon2 c.5593-135G>A 0.013778 0.0069 Uncertain 3_113594577_-->AT 3 113594577 113594577 - AT indel 387.75 1/1 24 9 0 9 1.0 intronic rs10662527 GRAMD1C AU NM_017577 exon4 c.36678+143insAT 0.999002 1 Uncertain 3_113595156_C->G 3 113595156 113595156 C G snp 1398.77 1/1 99 55 0 55 1.0 intronic rs2712350 GRAMD1C AU NM_017577 exon5 c.37351+49C>G 0.983626 1 0.981163 0.9945 1 Uncertain 3_113619872_C->T 3 113619872 113619872 C T snp 2286.77 1/1 99 85 0 85 1.0 splicing rs2632244 GRAMD1C AU NM_017577 exon7 c.62121-5C>T 0.992812 1 0.993157 0.9981 1 Pathogenic 3_113655108_C->T 3 113655108 113655108 C T snp 63.77 0/1 92 39 31 8 0.21 splicing rs753522045 GRAMD1C AU NM_001172105 exon9 c.35160-4C>T 0.0001 0 Pathogenic 3_113656833_C->G 3 113656833 113656833 C G snp 103.77 0/1 99 7 3 4 0.57 intronic rs1963015 GRAMD1C AU NM_001172105 exon10 c.36980-99C>G 0.389377 0.3899 Uncertain 3_113664184_AG->- 3 113664184 113664185 AG - indel 553.73 0/1 99 30 17 13 0.43 intronic rs5851910 GRAMD1C AU NM_001172105 exon13 c.44292-60_44292-59delAG 0.289537 0.3542 Uncertain 3_113673125_A->G 3 113673125 113673125 A G snp 7042.77 1/1 99 250 0 250 1.0 exonic rs11921691 ZDHHC23 AU nonsynonymous SNV NM_173570 exon3 c.A740G p.K247R 0.597444 0.6696 0.561587 0.5545 0.6442 0.54 T 0.0 P -0.994 T 0.0 T 0.0 T Pathogenic 3_113676900_A->T 3 113676900 113676900 A T snp 46.77 0/1 55 5 2 3 0.6 intronic rs62265440 ZDHHC23 AU NM_173570 exon5 c.9560-309A>T 0.131589 0.2688 Uncertain 3_113679589_C->A 3 113679589 113679589 C A snp 4714.77 1/1 99 174 0 174 1.0 UTR3 rs12629415 ZDHHC23 AU 0.254992 0.373 0.205751 0.2078 0.3509 Uncertain 3_113679725_C->T 3 113679725 113679725 C T snp 2573.77 1/1 99 77 0 77 1.0 UTR3 rs3732785 ZDHHC23 AU 0.778155 0.7569 Uncertain 3_113720517_T->A 3 113720517 113720517 T A snp 2587.77 0/1 99 250 147 103 0.41 exonic rs6784095 KIAA1407 AU nonsynonymous SNV NM_020817 exon13 c.A2088T p.E696D 0.109824 0.1567 0.103414 0.1243 0.1608 0.04 T 1.000 P -1.097 T 0.412 T 0.148 T Pathogenic 3_113720624_C->T 3 113720624 113720624 C T snp 5348.77 1/1 99 181 1 180 0.99 intronic rs6438178 KIAA1407 AU NM_020817 exon5 c.36542+81C>T 0.991613 1 Uncertain 3_113753801_C->T 3 113753801 113753801 C T snp 689.77 0/1 99 67 38 29 0.43 exonic rs61741386 KIAA1407 AU synonymous SNV NM_020817 exon6 c.G789A p.R263R 0.0391374 0.0833 0.016146 0.0157 0.0928 Uncertain 3_113755662_A->G 3 113755662 113755662 A G snp 297.77 0/1 99 20 9 11 0.55 intronic rs12635058 KIAA1407 AU NM_020817 exon13 c.71632+29A>G 0.0429313 0.0833 0.016371 0.0231 0.1429 Uncertain 3_113784007_-->T 3 113784007 113784007 - T indel 108.73 0/1 99 23 14 9 0.39 intronic rs34428541 QTRTD1 AU NM_001256835 exon2 c.8387-76insT 0.278954 0.3472 Uncertain 3_113785150_TATGT->- 3 113785150 113785154 TATGT - indel 704.73 0/1 99 33 22 11 0.33 intronic rs3830297 QTRTD1 AU NM_001256835 exon3 c.9434+20_9434+24delTATGT 0.109824 0.1577 0.096421 0.1232 0.1597 Uncertain 3_113798984_A->G 3 113798984 113798984 A G snp 114.77 0/1 66 6 2 4 0.67 intronic QTRTD1 AU NM_001256835 exon7 c.23208+80A>G Uncertain 3_113801472_G->A 3 113801472 113801472 G A snp 256.77 0/1 99 26 12 14 0.54 intronic rs72960764 QTRTD1 AU NM_001256835 exon8 c.25827-51G>A 0.0555112 0.0853 0.031915 Uncertain 3_113804859_T->C 3 113804859 113804859 T C snp 210.77 0/1 99 17 9 8 0.47 UTR3 rs3732788 QTRTD1 AU 0.111022 0.131 Uncertain 3_113858350_C->T 3 113858350 113858350 C T snp 656.77 1/1 48 24 0 24 1.0 exonic rs2251177 DRD3 AD synonymous SNV NM_000796 exon5 c.G720A p.Q240Q 0.957867 1 0.957327 0.9848 0.9995 Uncertain 3_113955056_A->- 3 113955056 113955056 A - indel 328.73 0/1 99 52 32 20 0.38 UTR3 rs11316836 ZNF80 AU 0.584665 0.5417 0.5357 0.4991 Uncertain 3_113955164_T->G 3 113955164 113955164 T G snp 1474.77 0/1 99 150 79 71 0.47 exonic rs3732782 ZNF80 AU nonsynonymous SNV NM_007136 exon1 c.A758C p.D253A 0.694089 0.5456 0.696602 0.6567 0.5370 1 T 0.0 P -1.005 T 0.0 T 0.0 T Pathogenic 3_113955265_G->A 3 113955265 113955265 G A snp 1508.77 0/1 99 149 88 61 0.41 exonic rs6438190 ZNF80 AU synonymous SNV NM_007136 exon1 c.C657T p.C219C 0.693091 0.5427 0.696755 0.6566 0.5367 Uncertain 3_113955320_C->T 3 113955320 113955320 C T snp 1708.77 0/1 99 156 82 74 0.47 exonic rs6438191 ZNF80 AU nonsynonymous SNV NM_007136 exon1 c.G602A p.R201H 0.692692 0.5427 0.696755 0.6566 0.5367 0.16 T 0.0 P -1.087 T 0.0 T 0.0 T Pathogenic 3_113955820_G->C 3 113955820 113955820 G C snp 1901.77 0/1 99 180 94 86 0.48 exonic rs3732780 ZNF80 AU synonymous SNV NM_007136 exon1 c.C102G p.S34S 0.311502 0.375 0.286714 0.2766 0.3709 Uncertain 3_114833283_G->A 3 114833283 114833283 G A snp 46.77 0/1 33 3 1 2 0.67 intergenic rs2177039 ZBTB20-AS4 AU 0.239417 0.5724 Uncertain 3_115394705_T->C 3 115394705 115394705 T C snp 136.03 1/1 12 4 0 4 1.0 intronic rs982206 GAP43 AU NM_001130064 exon3 c.12234-154T>C 0.850839 0.9653 Uncertain 3_116163635_AC->- 3 116163635 116163636 AC - indel 1980.73 1/1 99 52 0 52 1.0 intronic rs138580275 LSAMP AU NM_002338 exon7 c.634560-88_634560-87delAC Uncertain 3_118381320_C->A 3 118381320 118381320 C A snp 3513.77 1/1 99 132 0 132 1.0 intergenic rs28380350 LINC00901 AU 0.484625 0.5813 0.3559 0.6119 Uncertain 3_118621833_T->C 3 118621833 118621833 T C snp 2132.77 0/1 99 164 80 84 0.51 intronic rs73185803 IGSF11 AU NM_152538 exon1 c.442+25T>C 0.358027 0.2063 0.266741 0.2351 0.2060 Uncertain 3_118623414_T->C 3 118623414 118623414 T C snp 147.77 0/1 94 8 3 5 0.63 intronic rs4687959 IGSF11 AU NM_152538 exon2 c.2128-80T>C 0.489018 0.3383 Uncertain 3_118624631_G->A 3 118624631 118624631 G A snp 751.77 0/1 99 55 20 35 0.64 intronic rs6782002 IGSF11 AU NM_152538 exon3 c.3199+66G>A 0.380391 0.2083 Uncertain 3_118645118_A->G 3 118645118 118645118 A G snp 406.77 0/1 99 37 20 17 0.46 intronic rs9848979 IGSF11 AU NM_152538 exon4 c.23737+15A>G 0.394968 0.2093 0.313086 0.2493 0.2086 Uncertain 3_118649060_G->T 3 118649060 118649060 G T snp 1910.77 1/1 99 73 2 71 0.97 exonic rs2903250 IGSF11 AU nonsynonymous SNV NM_001015887 exon2 c.C115A p.P39T 0.863219 0.8046 0.839920 0.8216 0.7790 1 T 0.000 P -0.944 T 0.0 T 0.0 T Pathogenic 3_118865127_GAA->- 3 118865127 118865129 GAA - indel 8131.73 1/1 99 149 0 149 1.0 exonic rs147862138 C3orf30 AU nonframeshift deletion NM_152539 exon1 c.91_93del p.31_31del 0.0539137 0.1637 0.006309 0.0237 0.1515 Uncertain 3_118866515_C->T 3 118866515 118866515 C T snp 850.77 1/1 63 28 0 28 1.0 intronic rs9864127 C3orf30 AU NM_152539 exon1 c.1398+81C>T 0.954073 0.999 Uncertain 3_118878874_A->G 3 118878874 118878874 A G snp 393.77 1/1 30 14 0 14 1.0 intergenic rs79524814 C3orf30 AU 0.0537141 0.1637 Uncertain 3_118905584_C->T 3 118905584 118905584 C T snp 2285.77 0/1 99 198 94 104 0.53 UTR5 rs3796355 UPK1B AU 0.052516 0.1538 0.020068 0.0210 0.1255 Uncertain 3_118909159_A->G 3 118909159 118909159 A G snp 2509.77 1/1 99 97 0 97 1.0 exonic rs9840317 UPK1B AU nonsynonymous SNV NM_006952 exon4 c.A338G p.Q113R 0.917133 0.9286 0.952945 0.9435 0.9213 1 T 0.000 P -0.944 T 0.0 T 0.0 T Pathogenic 3_118909892_A->G 3 118909892 118909892 A G snp 1363.77 0/1 99 144 78 66 0.46 exonic rs78761311 UPK1B AU nonsynonymous SNV NM_006952 exon5 c.A409G p.N137D 0.0395367 0.1567 0.004075 0.0169 0.1263 0.61 T 0.997 D -0.790 T 0.99 D 0.86 D Pathogenic 3_118909962_T->C 3 118909962 118909962 T C snp 2248.77 1/1 99 71 0 71 1.0 intronic rs3796356 UPK1B AU NM_006952 exon5 c.4363+11T>C 0.882987 0.9286 0.914962 0.9325 0.9217 Uncertain 3_118909987_C->T 3 118909987 118909987 C T snp 1223.77 1/1 90 35 0 35 1.0 intronic rs3796357 UPK1B AU NM_006952 exon5 c.4363+36C>T 0.882987 0.9286 0.914885 0.9326 0.9214 Uncertain 3_118922650_-->A 3 118922650 118922650 - A indel 117.73 0/1 99 13 7 6 0.46 intronic rs397787237 UPK1B AU NM_006952 exon8 c.17175-113insA 0.274561 0.376 Uncertain 3_118931389_C->T 3 118931389 118931389 C T snp 6542.77 1/1 99 250 0 250 1.0 UTR3 rs6784208 B4GALT4 AU 0.903554 0.999 0.911887 0.9285 0.9997 Uncertain 3_118935216_T->A 3 118935216 118935216 T A snp 585.77 0/1 99 51 25 26 0.51 intronic rs72655936 B4GALT4 AU NM_003778 exon2 c.3796+25T>A 0.086262 0.2004 0.031755 0.0594 0.1866 Uncertain 3_118935278_C->T 3 118935278 118935278 C T snp 83.77 0/1 33 5 2 3 0.6 intronic rs34867718 B4GALT4 AU NM_003778 exon2 c.3796+87C>T 0.119808 0.2569 Uncertain 3_118945578_T->C 3 118945578 118945578 T C snp 56.74 1/1 6 2 0 2 1.0 ncRNA_intronic rs3752377 B4GALT4-AS1 AU 0.120008 0.256 Uncertain 3_118945614_G->A 3 118945614 118945614 G A snp 124.77 0/1 66 7 2 5 0.71 ncRNA_intronic rs3752376 B4GALT4-AS1 AU 0.119409 0.256 0.109334 0.1313 0.2594 Uncertain 3_118945796_G->C 3 118945796 118945796 G C snp 1856.77 0/1 99 147 72 75 0.51 exonic rs3764779 B4GALT4 AU nonsynonymous SNV NM_003778 exon4 c.C346G p.Q116E 0.296925 0.3333 0.271567 0.2715 0.3541 1 T 0.0 P -0.988 T 0.0 T 0.0 T Pathogenic 3_119013714_C->A 3 119013714 119013714 C A snp 444.77 0/1 99 37 21 16 0.43 UTR5 rs72960626 ARHGAP31 AD 0.104233 0.0823 0.072708 0.0826 0.0704 Uncertain 3_119013928_A->T 3 119013928 119013928 A T snp 1675.77 1/1 99 53 0 53 1.0 intronic rs3732412 ARHGAP31 AD NM_020754 exon1 c.100+77A>T 0.450679 0.4087 Uncertain 3_119112559_A->G 3 119112559 119112559 A G snp 469.77 1/1 36 13 0 13 1.0 intronic rs935616 ARHGAP31 AD NM_020754 exon8 c.98687+121A>G 0.647364 0.8194 Uncertain 3_119118104_A->G 3 119118104 119118104 A G snp 5490.77 1/1 99 217 0 217 1.0 exonic rs4688001 ARHGAP31 AD synonymous SNV NM_020754 exon9 c.A1065G p.V355V 1 1 1.0000 1 Uncertain 3_119120577_G->C 3 119120577 119120577 G C snp 2274.77 1/1 99 70 0 70 1.0 intronic rs10511390 ARHGAP31 AD NM_020754 exon10 c.106917-91G>C 0.284944 0.3512 Uncertain 3_119128628_A->G 3 119128628 119128628 A G snp 381.22 0/1 4 15 1 14 0.93 splicing rs1463139 ARHGAP31 AD NM_020754 exon11 c.114872+5A>G 0.633786 0.4792 0.643654 0.6424 0.5515 Pathogenic 3_119128634_T->C 3 119128634 119128634 T C snp 389.77 1/1 30 12 0 12 1.0 intronic rs1463138 ARHGAP31 AD NM_020754 exon11 c.114872+11T>C 0.464856 0.4474 0.458895 0.5507 0.5258 Uncertain 3_119132554_A->G 3 119132554 119132554 A G snp 180.9 1/1 15 6 0 6 1.0 intronic rs4687855 ARHGAP31 AD NM_020754 exon12 c.118951-148A>G 0.820887 0.8482 Uncertain 3_119133183_G->A 3 119133183 119133183 G A snp 3729.77 1/1 99 139 0 139 1.0 exonic rs3732413 ARHGAP31 AD nonsynonymous SNV NM_020754 exon12 c.G2407A p.G803S 0.845647 0.8482 0.831608 0.8083 0.8667 1 T 0.0 P -0.977 T 0.0 T 0.0 T Pathogenic 3_119153798_G->A 3 119153798 119153798 G A snp 3260.77 1/1 99 117 0 117 1.0 intronic rs34023538 TMEM39A AU NM_018266 exon2 c.2902+69G>A 0.11901 0.123 Uncertain 3_119154562_C->T 3 119154562 119154562 C T snp 249.8 1/1 21 7 0 7 1.0 intronic rs12492609 TMEM39A AU NM_018266 exon2 c.2902+833C>T 0.11901 0.123 Uncertain 3_119169978_C->T 3 119169978 119169978 C T snp 549.77 1/1 42 18 0 18 1.0 intronic rs13096213 TMEM39A AU NM_018266 exon6 c.20466-1315C>T 0.139377 0.1369 Uncertain 3_119171280_C->G 3 119171280 119171280 C G snp 2938.77 1/1 99 118 0 118 1.0 intronic rs1919586 TMEM39A AU NM_018266 exon6 c.20466-13C>G 0.819089 0.8482 0.804782 0.8015 0.8654 Uncertain 3_119171324_C->T 3 119171324 119171324 C T snp 949.77 0/1 99 105 63 42 0.4 exonic rs188443867 TMEM39A AU synonymous SNV NM_018266 exon4 c.G390A p.A130A 0.000998403 0.004 0.0002 0.0023 ID=COSM1036737;OCCURENCE=1(endometrium) Uncertain 3_119188895_C->G 3 119188895 119188895 C G snp 1544.77 1/1 99 46 0 46 1.0 intronic rs6438531 POGLUT1 AD NM_152305 exon2 c.889+138C>G 0.845647 0.8482 Uncertain 3_119196166_T->C 3 119196166 119196166 T C snp 3583.77 1/1 99 136 0 136 1.0 exonic rs3732420 POGLUT1 AD synonymous SNV NM_152305 exon4 c.T327C p.S109S 0.11901 0.123 0.140243 0.1671 0.1491 1.0 P -1.060 T Likely benign 3_119197285_A->G 3 119197285 119197285 A G snp 5370.77 1/1 99 200 0 200 1.0 intronic rs4688005 POGLUT1 AD NM_152305 exon4 c.8427+990A>G 0.807708 0.8482 0.8157 0.8990 Uncertain 3_119197387_G->A 3 119197387 119197387 G A snp 1616.77 1/1 99 52 0 52 1.0 intronic rs13078816 POGLUT1 AD NM_152305 exon4 c.8427+1092G>A 0.11881 0.123 Uncertain 3_119198873_G->A 3 119198873 119198873 G A snp 7307.77 1/1 99 250 1 249 1.0 intronic rs4688007 POGLUT1 AD NM_152305 exon5 c.11029-24G>A 0.830871 0.8482 0.815854 0.8034 0.8656 Uncertain 3_119211294_A->G 3 119211294 119211294 A G snp 3891.77 1/1 99 136 1 135 0.99 UTR3 rs1997341 POGLUT1 AD 0.119209 0.123 0.139859 0.1709 0.1501 Uncertain 3_119246827_T->C 3 119246827 119246827 T C snp 224.84 1/1 18 6 0 6 1.0 intronic rs6778945 CD80 AU NM_005191 exon2 c.71+139T>C 0.878994 0.8571 Uncertain 3_119248967_G->T 3 119248967 119248967 G T snp 377.77 1/1 30 10 0 10 1.0 intronic rs2629396 CD80 AU NM_005191 exon3 c.2167+183G>T 0.6873 0.625 Uncertain 3_119305169_G->A 3 119305169 119305169 G A snp 865.77 0/1 99 77 44 33 0.43 exonic rs20569 ADPRH AU synonymous SNV NM_001291950 exon2 c.G15A p.P5P 0.198882 0.2292 0.191450 0.1544 0.2740 Uncertain 3_119306844_A->C 3 119306844 119306844 A C snp 77.77 0/1 69 6 2 4 0.67 UTR3 ADPRH AU Uncertain 3_119325907_G->A 3 119325907 119325907 G A snp 480.77 0/1 99 36 19 17 0.47 intronic rs2251566 PLA1A AU NM_015900 exon2 c.9062+85G>A 0.306709 0.4474 Uncertain 3_119327570_T->A 3 119327570 119327570 T A snp 467.77 0/1 99 33 16 17 0.52 intronic rs74582733 PLA1A AU NM_015900 exon3 c.10856-46T>A 0.00579073 0.0288 0.000154 0.0020 0.0262 Uncertain 3_119327605_C->- 3 119327605 119327605 C - indel 876.73 0/1 99 62 33 29 0.47 intronic rs397875901 PLA1A AU NM_015900 exon3 c.10856-11delC 0.321486 0.4504 0.264335 0.2344 0.4565 Uncertain 3_119327653_T->C 3 119327653 119327653 T C snp 1792.77 0/1 99 143 64 79 0.55 exonic rs1723969 PLA1A AU synonymous SNV NM_001206960 exon3 c.T312C p.F104F 0.340655 0.4504 0.288098 0.2397 0.4564 Uncertain 3_119328450_AGGCTTT->- 3 119328450 119328456 AGGCTTT - indel 1639.73 0/1 99 47 27 20 0.43 intronic rs3832185 PLA1A AU NM_001206961 exon3 c.43+27_43+33delAGGCTTT 0.286741 0.4484 0.208373 0.2056 0.4488 Uncertain 3_119331874_C->T 3 119331874 119331874 C T snp 1037.77 0/1 99 99 54 45 0.45 exonic rs2272270 PLA1A AU synonymous SNV NM_001206961 exon4 c.C54T p.P18P 0.285942 0.4484 0.217131 0.2909 0.5065 Uncertain 3_119331892_C->G 3 119331892 119331892 C G snp 1112.77 0/1 99 105 58 47 0.45 exonic rs2272269 PLA1A AU synonymous SNV NM_001206961 exon4 c.C72G p.T24T 0.307907 0.4484 0.252576 0.2755 0.4860 Uncertain 3_119332042_G->A 3 119332042 119332042 G A snp 247.77 0/1 99 27 16 11 0.41 intronic rs2272268 PLA1A AU NM_001206961 exon4 c.3585+77G>A 0.307907 0.4484 Uncertain 3_119334986_G->A 3 119334986 119334986 G A snp 2680.77 1/1 99 105 0 105 1.0 intronic rs2247660 PLA1A AU NM_001206961 exon5 c.6568+38G>A 0.700479 0.8988 0.578899 0.5871 0.8909 Uncertain 3_119336728_C->T 3 119336728 119336728 C T snp 685.77 1/1 51 19 0 19 1.0 intronic rs4688020 PLA1A AU NM_001206961 exon6 c.8485-137C>T 0.610224 0.8968 Uncertain 3_119338956_A->G 3 119338956 119338956 A G snp 2315.77 1/1 99 85 0 85 1.0 intronic rs2280669 PLA1A AU NM_001206961 exon7 c.10119+457A>G 0.589058 0.8849 0.5501 0.89 0.09 T 0.0 P -0.959 T Uncertain 3_119339010_G->A 3 119339010 119339010 G A snp 2461.77 1/1 99 91 0 91 1.0 intronic rs1877595 PLA1A AU NM_001206961 exon7 c.10119+511G>A 0.609225 0.8968 0.5518 0.8939 Uncertain 3_119339054_C->T 3 119339054 119339054 C T snp 1967.77 1/1 99 75 0 75 1.0 intronic rs1877594 PLA1A AU NM_001206961 exon7 c.10119+555C>T 0.54353 0.8948 Uncertain 3_119347400_A->G 3 119347400 119347400 A G snp 102.77 0/1 99 10 6 4 0.4 intronic rs2280580 PLA1A AU NM_001206961 exon9 c.19167-147A>G 0.199081 0.3383 Uncertain 3_119366883_C->T 3 119366883 119366883 C T snp 94.28 1/1 9 5 0 5 1.0 intronic rs484809 POPDC2 AU NM_022135 exon2 c.5784-223C>T 0.465655 0.6607 Uncertain 3_119367390_T->C 3 119367390 119367390 T C snp 2587.77 1/1 99 96 0 96 1.0 exonic rs2688643 POPDC2 AU synonymous SNV NM_022135 exon3 c.A726G p.S242S 0.94349 1 0.945794 0.9841 0.9997 Uncertain 3_119373257_A->G 3 119373257 119373257 A G snp 56.74 1/1 6 2 0 2 1.0 intronic rs2688631 POPDC2 AU NM_022135 exon3 c.12029-94A>G 0.591653 0.75 Uncertain 3_119373301_G->A 3 119373301 119373301 G A snp 507.77 1/1 39 15 0 15 1.0 intronic rs2688630 POPDC2 AU NM_022135 exon3 c.12029-50G>A 0.591653 0.75 0.557512 0.6164 0.7286 Uncertain 3_119373315_T->C 3 119373315 119373315 T C snp 766.77 1/1 57 22 0 22 1.0 intronic rs2688629 POPDC2 AU NM_022135 exon3 c.12029-36T>C 0.590855 0.75 0.557589 0.6174 0.7299 Uncertain 3_119395662_C->G 3 119395662 119395662 C G snp 2367.77 1/1 99 90 0 90 1.0 intronic rs523476 COX17 AU NM_005694 exon3 c.2055-388C>G 0.407548 0.6587 0.4043 0.6837 Uncertain 3_119395866_GGGGCGG->- 3 119395866 119395872 GGGGCGG - indel 569.74 1/1 27 12 0 12 1.0 intronic rs368987137 COX17 AU NM_005694 exon3 c.2055-184_2055-178delGGGGCGG Uncertain 3_119395900_T->G 3 119395900 119395900 T G snp 54.77 0/1 55 12 4 8 0.67 intronic COX17 AU NM_005694 exon3 c.2055-150T>G Uncertain 3_119422204_T->C 3 119422204 119422204 T C snp 1102.77 1/1 81 30 0 30 1.0 intronic rs7624672 MAATS1 AU NM_033364 exon1 c.124+135T>C 0.909944 1 Uncertain 3_119426307_T->C 3 119426307 119426307 T C snp 1544.77 1/1 99 60 0 60 1.0 exonic rs9848716 MAATS1 AU synonymous SNV NM_033364 exon3 c.T258C p.Y86Y 0.585264 0.8095 0.565585 0.6802 0.8049 Uncertain 3_119427673_G->A 3 119427673 119427673 G A snp 90.28 1/1 9 3 0 3 1.0 intronic rs9834908 MAATS1 AU NM_033364 exon4 c.5576+152G>A 0.922125 1 Uncertain 3_119434527_G->C 3 119434527 119434527 G C snp 2802.77 1/1 99 109 0 109 1.0 exonic rs6438544 MAATS1 AU nonsynonymous SNV NM_033364 exon6 c.G619C p.A207P 0.909944 1 0.900277 0.9727 1 1 T 0.000 P -0.939 T 0.0 T 0.0 T Pathogenic 3_119501780_G->A 3 119501780 119501780 G A snp 2812.77 1/1 99 104 0 104 1.0 intronic rs2472668 NR1I2 AU NM_022002 exon1 c.95+81G>A 0.883786 1 Uncertain 3_119501798_T->A 3 119501798 119501798 T A snp 2431.77 1/1 99 87 0 87 1.0 intronic rs2461831 NR1I2 AU NM_022002 exon1 c.95+99T>A 0.979832 1 Uncertain 3_119526349_G->A 3 119526349 119526349 G A snp 83.77 0/1 67 5 2 3 0.6 intronic rs1464603 NR1I2 AU NM_022002 exon2 c.24690+55G>A 0.480032 0.6052 Uncertain 3_119526372_G->A 3 119526372 119526372 G A snp 38.77 0/1 31 3 1 2 0.67 intronic rs1464602 NR1I2 AU NM_022002 exon2 c.24690+78G>A 0.538538 0.6141 Uncertain 3_119529113_G->T 3 119529113 119529113 G T snp 2099.77 1/1 99 70 0 70 1.0 intronic rs3732356 NR1I2 AU NM_022002 exon3 c.27437+72G>T 0.850839 0.876 Uncertain 3_119533733_G->A 3 119533733 119533733 G A snp 423.77 0/1 99 26 9 17 0.65 intronic rs6785049 NR1I2 AU NM_022002 exon6 c.32221-92G>A 0.401358 0.4038 Uncertain 3_119533773_T->C 3 119533773 119533773 T C snp 1835.77 1/1 99 62 0 62 1.0 intronic rs6797879 NR1I2 AU NM_022002 exon6 c.32221-52T>C 0.892772 0.879 Uncertain 3_119533910_T->C 3 119533910 119533910 T C snp 5170.77 1/1 99 191 0 191 1.0 exonic rs4058490 NR1I2 AU synonymous SNV NM_003889 exon6 c.T879C p.N293N 0.999401 1 0.999616 0.9999 1 Uncertain 3_119534153_C->T 3 119534153 119534153 C T snp 928.77 0/1 99 71 32 39 0.55 intronic rs2276707 NR1I2 AU NM_022002 exon7 c.32565-16C>T 0.319688 0.4663 0.242427 0.2442 0.4694 Uncertain 3_119595051_A->G 3 119595051 119595051 A G snp 117.78 0/1 27 5 1 4 0.8 intronic rs45567135 GSK3B AU NM_002093 exon5 c.49625-208A>G 0.0483227 0.0923 Uncertain 3_119721171_T->C 3 119721171 119721171 T C snp 195.77 0/1 99 18 10 8 0.44 intronic rs12108149 GSK3B AU NM_002093 exon11 c.175452+85T>C 0.307109 0.4702 Uncertain 3_119886548_G->C 3 119886548 119886548 G C snp 7526.77 1/1 99 249 0 249 1.0 exonic rs9858566 GPR156 AU synonymous SNV NM_001168271 exon9 c.C1764G p.L588L 0.902356 0.9306 0.903568 0.9138 0.9171 Uncertain 3_119886776_T->A 3 119886776 119886776 T A snp 4728.77 1/1 99 173 0 173 1.0 exonic rs902790 GPR156 AU nonsynonymous SNV NM_001168271 exon9 c.A1536T p.E512D 0.901957 0.9306 0.903352 0.9130 0.9168 0.0 P -0.989 T 0.0 T 0.0 T Pathogenic 3_119900212_G->C 3 119900212 119900212 G C snp 351.77 0/1 99 31 16 15 0.48 splicing rs1488765 GPR156 AU NM_001168271 exon3 c.14330+4G>C 0.384185 0.3204 0.407966 0.3618 0.3327 Pathogenic 3_119900260_T->C 3 119900260 119900260 T C snp 301.78 1/1 24 8 0 8 1.0 intronic rs1488764 GPR156 AU NM_001168271 exon3 c.14330+52T>C 0.902157 0.9306 0.901678 0.9130 0.9165 Uncertain 3_119904125_A->G 3 119904125 119904125 A G snp 6151.77 1/1 99 228 0 228 1.0 intronic rs902791 GPR156 AU NM_001168271 exon4 c.18267-20A>G 0.901957 0.9296 0.902968 0.9129 0.9161 Uncertain 3_119904315_G->C 3 119904315 119904315 G C snp 1142.77 1/1 84 40 1 39 0.97 intronic rs902792 GPR156 AU NM_001168271 exon4 c.18363+74G>C 0.902157 0.9306 Uncertain 3_119904366_-->CTG 3 119904366 119904366 - CTG indel 221.73 0/1 99 12 6 6 0.5 intronic rs3036742 GPR156 AU NM_001168271 exon4 c.18363+125insCTG 0.254193 0.5893 Uncertain 3_119905641_G->A 3 119905641 119905641 G A snp 2501.77 1/1 99 91 0 91 1.0 intronic rs2319542 GPR156 AU NM_001168271 exon5 c.19752+11G>A 0.902157 0.9306 0.903045 0.9129 0.9161 Uncertain 3_119911603_C->T 3 119911603 119911603 C T snp 139.03 1/1 12 4 0 4 1.0 intronic rs6764549 GPR156 AU NM_001168271 exon6 c.25907-182C>T 0.897364 0.9306 Uncertain 3_119911667_G->A 3 119911667 119911667 G A snp 711.77 1/1 54 23 0 23 1.0 intronic rs2319543 GPR156 AU NM_001168271 exon6 c.25907-118G>A 0.897364 0.9306 Uncertain 3_119912297_C->A 3 119912297 119912297 C A snp 1370.77 0/1 99 100 47 53 0.53 intronic rs902793 GPR156 AU NM_001168271 exon7 c.26393+26C>A 0.383387 0.3204 0.408888 0.3608 0.3319 Uncertain 3_119912406_A->G 3 119912406 119912406 A G snp 267.8 1/1 21 7 0 7 1.0 intronic rs902794 GPR156 AU NM_001168271 exon7 c.26393+135A>G 0.902356 0.9306 Uncertain 3_120123953_T->A 3 120123953 120123953 T A snp 1323.77 1/1 99 35 0 35 1.0 intronic rs1147701 FSTL1 AU NM_007085 exon5 c.8020+135T>A 0.984225 1 Uncertain 3_120128286_T->A 3 120128286 120128286 T A snp 387.77 0/1 99 28 15 13 0.46 intronic FSTL1 AU NM_007085 exon6 c.12580-92T>A Uncertain 3_120130899_T->C 3 120130899 120130899 T C snp 269.77 0/1 99 32 22 10 0.31 intronic rs1259326 FSTL1 AU NM_007085 exon8 c.15032+69T>C 0.757188 0.7966 Uncertain 3_120134901_C->A 3 120134901 120134901 C A snp 2494.77 0/1 99 231 124 107 0.46 intronic rs2272516 FSTL1 AU NM_007085 exon9 c.19076+27C>A 0.0786741 0.1448 0.062279 0.0711 0.1725 Uncertain 3_120169641_T->C 3 120169641 120169641 T C snp 3014.77 0/1 99 239 103 136 0.57 intronic rs1147708 FSTL1 AU NM_007085 exon10 c.53795+48T>C 0.859026 0.87 0.911410 0.9000 0.8390 Uncertain 3_120369575_T->G 3 120369575 120369575 T G snp 5698.77 1/1 99 217 0 217 1.0 intronic rs3817627 HGD AR NM_000187 exon9 c.22394-45T>G 0.603435 0.7976 0.570857 0.6565 0.8058 Uncertain 3_120371369_G->A 3 120371369 120371369 G A snp 1533.77 1/1 99 62 0 62 1.0 intronic rs1054095 HGD AR NM_000187 exon10 c.24212-69G>A 0.298922 0.5933 0.186597 Uncertain 3_120371414_G->A 3 120371414 120371414 G A snp 1689.77 1/1 99 67 0 67 1.0 intronic rs2551607 HGD AR NM_000187 exon10 c.24212-24G>A 0.83107 0.9851 0.809509 0.8891 0.9827 Uncertain 3_120389316_T->A 3 120389316 120389316 T A snp 3200.06 1/1 99 120 0 120 1.0 exonic rs2255543 HGD AR nonsynonymous SNV NM_000187 exon4 c.A240T p.Q80H 0.731629 0.6429 0.743422 0.7353 0.6559 0.67 T 0.0 P -0.937 T 0.0 T 0.0 T Pathogenic 3_120409526_C->T 3 120409526 120409526 C T snp 592.77 1/1 48 20 0 20 1.0 intronic rs2288096 RABL3 AU NM_173825 exon2 c.665+192C>T 0.377196 0.8284 Uncertain 3_120413158_G->A 3 120413158 120413158 G A snp 1151.77 1/1 81 46 0 46 1.0 intronic rs7612975 RABL3 AU NM_173825 exon3 c.4402+87G>A 0.942292 0.9921 Uncertain 3_120500093_C->T 3 120500093 120500093 C T snp 1242.77 0/1 99 120 65 55 0.46 exonic rs3732401 GTF2E1 AU nonsynonymous SNV NM_005513 exon5 c.C1096T p.P366S 0.168131 0.4851 0.030986 0.1132 0.5056 0.76 T 1.000 P -0.942 T 0.845 T 0.503 P ID=CM067419;DIS=Lung cancer, susceptibility to, association with;TAG=DP;PUB=16741161 DP Pathogenic 3_120833994_G->A 3 120833994 120833994 G A snp 266.77 0/1 99 23 11 12 0.52 intronic rs17195251 STXBP5L AU NM_014980 exon6 c.205481+88G>A 0.164936 0.2212 Uncertain 3_120833998_A->G 3 120833998 120833998 A G snp 235.77 0/1 99 20 9 11 0.55 intronic STXBP5L AU NM_014980 exon6 c.205481+92A>G Uncertain 3_121100117_T->- 3 121100117 121100117 T - indel 990.73 1/1 96 32 0 32 1.0 intronic rs35624942 STXBP5L AU NM_014980 exon23 c.471714-22delT 0.765375 0.8373 0.7770 0.8987 Uncertain 3_121132268_T->A 3 121132268 121132268 T A snp 694.77 1/1 54 18 0 18 1.0 intronic rs9849118 STXBP5L AU NM_014980 exon25 c.503745+98T>A 0.827875 0.877 Uncertain 3_121137976_C->T 3 121137976 121137976 C T snp 1727.77 1/1 99 67 1 66 0.99 UTR3 rs6782025 STXBP5L AU 0.770567 0.877 0.722560 0.7703 0.8973 Uncertain 3_121138015_C->T 3 121138015 121138015 C T snp 1413.77 1/1 99 54 0 54 1.0 UTR3 rs6782033 STXBP5L AU 0.770567 0.877 0.725241 Uncertain 3_121151784_G->A 3 121151784 121151784 G A snp 2551.77 0/1 99 226 116 110 0.49 exonic rs2306211 POLQ AU nonsynonymous SNV NM_199420 exon29 c.C7640T p.A2547V 0.033746 0.0685 0.012610 0.0259 0.0735 0.04 T 0.995 D 0.198 D 1.0 D 0.987 D Pathogenic 3_121154974_T->C 3 121154974 121154974 T C snp 4027.77 1/1 99 148 0 148 1.0 exonic rs1381057 POLQ AU nonsynonymous SNV NM_199420 exon28 c.A7538G p.Q2513R 0.745208 0.877 0.669614 0.7217 0.8976 1 T 0.0 P -0.965 T 0.0 T 0.001 T Pathogenic 3_121155198_C->T 3 121155198 121155198 C T snp 3109.77 1/1 99 101 0 101 1.0 intronic rs2030531 POLQ AU NM_199420 exon3 c.3972+76C>T 0.696486 0.876 Uncertain 3_121186543_A->G 3 121186543 121186543 A G snp 3402.77 1/1 99 105 0 105 1.0 intronic rs1381058 POLQ AU NM_199420 exon7 c.35337+56A>G 0.679113 0.876 Uncertain 3_121195303_ACAC->- 3 121195303 121195306 ACAC - indel 3559.73 1/1 99 60 0 60 1.0 intronic rs539787136 POLQ AU NM_199420 exon11 c.44236-83_44236-80delACAC Uncertain 3_121208176_T->C 3 121208176 121208176 T C snp 3175.77 0/1 99 250 127 123 0.49 exonic rs3218651 POLQ AU nonsynonymous SNV NM_199420 exon16 c.A3602G p.H1201R 0.289736 0.5496 0.132477 0.2325 0.5674 0.54 T 0.0 P -0.947 T 0.048 T 0.014 T Pathogenic 3_121208833_G->C 3 121208833 121208833 G C snp 3289.77 1/1 99 122 0 122 1.0 exonic rs3218649 POLQ AU nonsynonymous SNV NM_199420 exon16 c.C2945G p.T982R 0.696486 0.876 0.602769 0.6741 0.8964 0.54 T 0.0 P -1.009 T 0.0 T 0.0 T Pathogenic 3_121212278_T->- 3 121212278 121212278 T - indel 665.73 1/1 69 24 0 24 1.0 intronic rs11351457 POLQ AU NM_199420 exon16 c.61174-46delT 0.696486 0.875 0.613244 0.7067 0.9011 Uncertain 3_121228833_A->C 3 121228833 121228833 A C snp 2343.77 1/1 99 76 0 76 1.0 intronic rs3732406 POLQ AU NM_199420 exon20 c.77735-52A>C 0.719649 0.876 Uncertain 3_121238749_G->A 3 121238749 121238749 G A snp 3546.77 1/1 99 138 0 138 1.0 exonic rs702018 POLQ AU synonymous SNV NM_199420 exon9 c.C1437T p.G479G 0.997404 1 0.998462 0.9995 1 Uncertain 3_121241058_C->G 3 121241058 121241058 C G snp 1488.77 1/1 99 50 0 50 1.0 intronic rs13059229 POLQ AU NM_199420 exon23 c.89846+62C>G 0.696486 0.876 Uncertain 3_121263720_C->A 3 121263720 121263720 C A snp 5781.77 1/1 99 211 1 210 1.0 exonic rs702017 POLQ AU nonsynonymous SNV NM_199420 exon2 c.G197T p.R66I 0.988618 1 0.988621 0.9964 1 0.29 T 0.0 P -0.988 T 0.0 T 0.0 T Pathogenic 3_121265043_C->T 3 121265043 121265043 C T snp 94.28 1/1 9 3 0 3 1.0 upstream rs13065220 POLQ AU 0.744409 0.876 Uncertain 3_121265176_G->A 3 121265176 121265176 G A snp 1886.77 1/1 99 59 0 59 1.0 upstream rs3806614 POLQ AU 0.695887 0.875 0.610394 0.6786 0.8986 Uncertain 3_121265522_A->C 3 121265522 121265522 A C snp 2332.77 1/1 99 85 0 85 1.0 upstream rs11714774 POLQ AU 0.744409 0.876 0.671259 0.7210 0.8997 Uncertain 3_121289829_G->T 3 121289829 121289829 G T snp 1182.77 0/1 99 90 47 43 0.48 intronic rs9812322 ARGFX AU NM_001012659 exon2 c.103+166G>T 0.171326 0.0635 Uncertain 3_121304710_C->T 3 121304710 121304710 C T snp 258.8 1/1 21 7 0 7 1.0 intronic rs486813 ARGFX AU NM_001012659 exon5 c.15308-158C>T 0.979832 1 Uncertain 3_121304933_G->A 3 121304933 121304933 G A snp 1345.77 0/1 99 97 40 57 0.59 exonic rs9813391 ARGFX AU nonsynonymous SNV NM_001012659 exon5 c.G434A p.R145Q 0.171126 0.0506 0.229433 0.2537 0.0426 0.7 T 0.0 P -1.097 T 0.017 T 0.001 T Pathogenic 3_121339354_T->C 3 121339354 121339354 T C snp 1513.77 1/1 99 56 0 56 1.0 intronic rs7640859 FBXO40 AU 0.934505 0.9464 0.924880 Uncertain 3_121339520_A->C 3 121339520 121339520 A C snp 1666.77 0/1 99 146 72 74 0.51 intronic rs35295338 FBXO40 AU NM_016298 exon2 c.3+95A>C 0.396565 0.6052 0.233684 Uncertain 3_121340536_T->C 3 121340536 121340536 T C snp 3061.77 0/1 99 249 122 127 0.51 exonic rs4676684 FBXO40 AU nonsynonymous SNV NM_016298 exon3 c.T260C p.V87A 0.4377 0.5873 0.277641 0.3380 0.5528 0.19 T 0.975 P -0.913 T 0.319 T 0.069 T Pathogenic 3_121350583_C->T 3 121350583 121350583 C T snp 269.8 1/1 21 9 0 9 1.0 UTR3 rs1128159 HCLS1 AU 0.41254 0.5665 Uncertain 3_121350966_C->G 3 121350966 121350966 C G snp 1595.77 1/1 99 48 0 48 1.0 exonic rs9869984 HCLS1 AU nonsynonymous SNV NM_005335 exon13 c.G1306C p.V436L 0.995407 1 0.996002 0.9987 0.9999 1 T 0.0 P -0.987 T 0.0 T 0.0 T Pathogenic 3_121351315_-->GGCTCAGGCTCA 3 121351315 121351315 - GGCTCAGGCTCA indel 9437.73 0/1 99 208 87 121 0.58 exonic rs150627065 HCLS1 AU nonframeshift insertion NM_005335 exon12 c.1103_1104insTGAGCCTGAGCC p.P368delinsPEPEP 0.241214 0.4563 ID=COSM1745440;OCCURENCE=4(urinary_tract) Uncertain 3_121351338_C->T 3 121351338 121351338 C T snp 2101.77 0/1 99 169 83 86 0.51 exonic rs2070180 HCLS1 AU nonsynonymous SNV NM_005335 exon12 c.G1081A p.E361K 0.146366 0.0913 0.240351 0.2163 0.0819 0.19 T 0.020 P -0.994 T 0.926 T 0.138 D Pathogenic 3_121351480_T->C 3 121351480 121351480 T C snp 186.77 0/1 99 10 4 6 0.6 intronic rs9815500 HCLS1 AU NM_001292041 exon3 c.718+70T>C 0.5002 0.7579 Uncertain 3_121351750_A->C 3 121351750 121351750 A C snp 56.74 1/1 6 2 0 2 1.0 intronic rs7611913 HCLS1 AU NM_001292041 exon4 c.1221-163A>C 0.638179 0.8492 Uncertain 3_121353254_T->C 3 121353254 121353254 T C snp 2450.77 1/1 99 90 0 90 1.0 exonic rs2070179 HCLS1 AU nonsynonymous SNV NM_005335 exon10 c.A703G p.T235A 0.651558 0.8492 0.711364 0.6997 0.8494 1 T 0.001 P -0.986 T 0.0 T 0.001 T Pathogenic 3_121353291_G->A 3 121353291 121353291 G A snp 693.77 0/1 99 66 38 28 0.42 intronic rs34667636 HCLS1 AU NM_001292041 exon5 c.2573+26G>A 0.147764 0.0913 0.237813 0.2177 0.0833 Uncertain 3_121354381_A->T 3 121354381 121354381 A T snp 461.77 1/1 36 14 0 14 1.0 intronic rs7620842 HCLS1 AU NM_001292041 exon6 c.3889-200A>T 0.651957 0.8502 Uncertain 3_121354583_G->A 3 121354583 121354583 G A snp 2185.77 0/1 99 154 61 93 0.6 exonic rs3772126 HCLS1 AU synonymous SNV NM_005335 exon9 c.C690T p.A230A 0.218251 0.4802 0.187683 0.2303 0.4564 Uncertain 3_121383297_G->A 3 121383297 121383297 G A snp 512.77 0/1 99 41 21 20 0.49 UTR3 rs7153 GOLGB1 AU 0.2498 0.4841 0.216362 0.2394 0.4617 Uncertain 3_121400456_A->G 3 121400456 121400456 A G snp 475.77 0/1 99 41 18 23 0.56 intronic rs144599579 GOLGB1 AU NM_001256486 exon8 c.17207-77A>G 0.00579073 0.0278 Uncertain 3_121400725_G->A 3 121400725 121400725 G A snp 254.77 0/1 99 27 17 10 0.37 intronic rs1463736 GOLGB1 AU NM_001256486 exon8 c.17386+13G>A 0.25 0.4841 0.216439 0.2390 0.4605 Uncertain 3_121414061_C->T 3 121414061 121414061 C T snp 1301.77 0/1 99 140 82 58 0.41 exonic rs1127412 GOLGB1 AU nonsynonymous SNV NM_001256486 exon13 c.G5309A p.G1770D 0.2502 0.4841 0.216977 0.2393 0.4613 0.55 T 0.0 P -0.934 T 0.001 T 0.001 T Pathogenic 3_121415610_G->A 3 121415610 121415610 G A snp 3233.06 0/1 99 220 91 129 0.59 exonic rs33988592 GOLGB1 AU nonsynonymous SNV NM_001256486 exon13 c.C3760T p.P1254S 0.146965 0.0923 0.241043 0.2172 0.0839 0.71 T 0.0 P -0.951 T 0.006 T 0.005 T Pathogenic 3_121415720_T->C 3 121415720 121415720 T C snp 2672.77 0/1 99 249 141 108 0.43 exonic rs3732410 GOLGB1 AU nonsynonymous SNV NM_001256486 exon13 c.A3650G p.Y1217C 0.219848 0.4841 0.187606 0.2311 0.4615 0.17 T 0.846 P -0.897 T 0.999 D 0.969 D ID=CM133995;DIS=Stroke, reduced risk in sickle cell anaemia;TAG=DP;PUB=23422753 DP Pathogenic 3_121433926_T->A 3 121433926 121433926 T A snp 88.28 1/1 9 3 0 3 1.0 intronic rs9854052 GOLGB1 AU NM_001256486 exon13 c.50497+103T>A 0.653155 0.8542 Uncertain 3_121435621_T->C 3 121435621 121435621 T C snp 3744.77 1/1 99 132 0 132 1.0 exonic rs9832267 GOLGB1 AU synonymous SNV NM_001256486 exon9 c.A1251G p.Q417Q 0.653155 0.8542 0.708980 0.6990 0.8564 1.000 P -1.037 T Likely benign 3_121435624_C->T 3 121435624 121435624 C T snp 3709.77 1/1 99 135 0 135 1.0 exonic rs9812411 GOLGB1 AU synonymous SNV NM_001256486 exon9 c.G1248A p.E416E 0.653754 0.8542 0.711056 0.6995 0.8564 1.000 P -1.055 T Likely benign 3_121448675_T->A 3 121448675 121448675 T A snp 1473.77 0/1 99 110 50 60 0.55 intronic rs28497949 GOLGB1 AU NM_001256486 exon20 c.65385-36T>A 0.278554 0.3016 0.354891 0.3519 0.3341 Uncertain 3_121500479_-->AC 3 121500479 121500479 - AC indel 976.73 ./1 99 27 0 27 1.0 intronic rs57816005 IQCB1 AR NM_001023570 exon3 c.11398-110insAC Uncertain 3_121500480_AC->- 3 121500480 121500481 AC - indel 976.73 ./1 99 27 0 27 1.0 intronic rs746090870 IQCB1 AR NM_001023570 exon3 c.11398-109_11398-108delAC Uncertain 3_121507372_TTTTTA->- 3 121507372 121507377 TTTTTA - indel 4041.73 0/1 99 107 37 70 0.65 intronic rs141690316 IQCB1 AR NM_001023570 exon4 c.18088+93_18088+98delTTTTTA 0.182308 0.0933 Uncertain 3_121507415_C->T 3 121507415 121507415 C T snp 701.77 0/1 99 37 13 24 0.65 intronic rs4073474 IQCB1 AR NM_001023570 exon4 c.18088+136C>T 0.621805 0.3294 Uncertain 3_121508830_A->T 3 121508830 121508830 A T snp 887.77 0/1 99 63 28 35 0.56 intronic rs6802815 IQCB1 AR NM_001023570 exon5 c.19728-89A>T 0.621006 0.3294 Uncertain 3_121514458_-->A 3 121514458 121514458 - A indel 1019.73 ./1 99 52 0 52 1.0 intronic rs200573580 IQCB1 AR NM_001023570 exon6 c.25222+45insA 0.117412 0.2996 0.1590 0.4325 Uncertain 3_121514459_A->- 3 121514459 121514459 A - indel 1019.73 ./1 99 52 0 52 1.0 intronic rs141330650 IQCB1 AR NM_001023570 exon6 c.25222+46delA 0.419329 0.2649 0.5347 0.3150 Uncertain 3_121526037_T->G 3 121526037 121526037 T G snp 101.77 0/1 64 6 2 4 0.67 intronic rs4298081 IQCB1 AR NM_001023570 exon9 c.36999-153T>G 0.182508 0.0933 Uncertain 3_121526099_A->G 3 121526099 121526099 A G snp 305.77 0/1 99 21 7 14 0.67 intronic rs4582090 IQCB1 AR NM_001023570 exon9 c.36999-91A>G 0.620407 0.3244 Uncertain 3_121526107_C->T 3 121526107 121526107 C T snp 312.77 0/1 99 21 7 14 0.67 intronic rs4280673 IQCB1 AR NM_001023570 exon9 c.36999-83C>T 0.182508 0.0933 Uncertain 3_121526153_A->- 3 121526153 121526153 A - indel 510.73 0/1 99 37 14 23 0.62 intronic rs5852278 IQCB1 AR NM_001023570 exon9 c.36999-37delA 0.183307 0.0933 0.2372 0.0857 Uncertain 3_121526204_G->A 3 121526204 121526204 G A snp 504.77 0/1 99 37 15 22 0.59 exonic rs4543051 IQCB1 AR synonymous SNV NM_001023570 exon7 c.C574T p.L192L 0.620008 0.3244 0.652492 0.6275 0.3038 Uncertain 3_121547527_A->G 3 121547527 121547527 A G snp 130.77 0/1 99 11 6 5 0.45 intronic rs1920320 IQCB1 AR NM_001023570 exon12 c.58288+48A>G 0.182308 0.0933 0.264610 0.2235 0.0922 Uncertain 3_121563271_C->T 3 121563271 121563271 C T snp 600.77 0/1 99 55 28 27 0.49 intronic rs11717089 EAF2 AU NM_018456 exon2 c.9167-28C>T 0.300919 0.1766 0.395385 0.3339 0.1569 Uncertain 3_121563285_T->C 3 121563285 121563285 T C snp 698.77 0/1 99 61 31 30 0.49 intronic rs11721291 EAF2 AU NM_018456 exon2 c.9167-14T>C 0.184904 0.1052 0.272259 0.2229 0.0917 Uncertain 3_121563355_T->C 3 121563355 121563355 T C snp 1026.77 0/1 99 97 51 46 0.47 exonic rs9884018 EAF2 AU synonymous SNV NM_018456 exon2 c.T162C p.G54G 0.246206 0.6161 0.146010 0.1787 0.6371 Uncertain 3_121613205_G->C 3 121613205 121613205 G C snp 383.77 1/1 30 13 0 13 1.0 UTR5 rs4603998 SLC15A2 AU 0.90595 0.9236 Uncertain 3_121630328_A->G 3 121630328 121630328 A G snp 1646.77 1/1 99 50 0 50 1.0 intronic rs6438687 SLC15A2 AU NM_021082 exon4 c.17097-92A>G 0.452276 0.6905 Uncertain 3_121633904_G->A 3 121633904 121633904 G A snp 56.74 1/1 6 2 0 2 1.0 intronic rs2049330 SLC15A2 AU NM_001145998 exon5 c.20750-169G>A 0.452276 0.6984 Uncertain 3_121633964_C->T 3 121633964 121633964 C T snp 737.77 1/1 54 21 0 21 1.0 intronic rs2049331 SLC15A2 AU NM_001145998 exon5 c.20750-109C>T 0.452077 0.6974 Uncertain 3_121634171_-->T 3 121634171 121634171 - T indel 3662.73 1/1 99 135 0 135 1.0 intronic rs3215370 SLC15A2 AU NM_001145998 exon5 c.20841+7insT 0.452276 0.6984 0.465261 0.4253 0.7136 Uncertain 3_121634410_T->A 3 121634410 121634410 T A snp 6133.77 1/1 99 205 1 204 1.0 intronic rs9812515 SLC15A2 AU NM_001145998 exon6 c.21139-52T>A 0.452276 0.6984 0.463425 Uncertain 3_121640912_T->G 3 121640912 121640912 T G snp 135.03 1/1 12 4 0 4 1.0 intronic rs2332044 SLC15A2 AU NM_001145998 exon7 c.27743-154T>G 0.452276 0.6984 Uncertain 3_121641528_G->A 3 121641528 121641528 G A snp 1861.77 1/1 99 57 0 57 1.0 intronic rs7637569 SLC15A2 AU NM_001145998 exon8 c.28298-93G>A 0.452276 0.6984 Uncertain 3_121641693_G->A 3 121641693 121641693 G A snp 5279.77 1/1 99 195 3 192 0.98 exonic rs2293616 SLC15A2 AU synonymous SNV NM_001145998 exon8 c.G759A p.A253A 0.452276 0.6984 0.465939 0.4256 0.7143 Uncertain 3_121641821_A->G 3 121641821 121641821 A G snp 3539.77 1/1 99 119 0 119 1.0 intronic rs2293615 SLC15A2 AU NM_001145998 exon9 c.28563-65A>G 0.452276 0.6984 Uncertain 3_121642048_A->T 3 121642048 121642048 A T snp 4665.77 1/1 99 167 0 167 1.0 intronic rs3817601 SLC15A2 AU NM_001145998 exon10 c.28745-20A>T 0.452276 0.6984 0.466016 0.4256 0.7147 Uncertain 3_121642246_C->T 3 121642246 121642246 C T snp 211.84 1/1 18 6 0 6 1.0 intronic rs2293614 SLC15A2 AU NM_001145998 exon10 c.28790+133C>T 0.453874 0.6984 Uncertain 3_121643143_-->T 3 121643143 121643143 - T indel 1117.73 1/1 99 41 0 41 1.0 intronic rs3215371 SLC15A2 AU NM_001145998 exon11 c.29874-54insT 0.450679 0.6944 Uncertain 3_121643170_A->T 3 121643170 121643170 A T snp 2424.77 1/1 99 85 1 84 0.99 intronic rs2257109 SLC15A2 AU NM_001145998 exon11 c.29874-27A>T 0.451877 0.6984 0.465477 0.4252 0.7144 Uncertain 3_121643303_T->A 3 121643303 121643303 T A snp 4535.77 1/1 99 178 0 178 1.0 intronic rs2257115 SLC15A2 AU NM_001145998 exon11 c.29907+73T>A 0.451877 0.6984 0.462111 Uncertain 3_121643337_G->A 3 121643337 121643337 G A snp 3549.77 1/1 99 137 0 137 1.0 intronic rs2257119 SLC15A2 AU NM_001145998 exon11 c.29907+107G>A 0.451877 0.6984 Uncertain 3_121643372_C->T 3 121643372 121643372 C T snp 2840.77 1/1 99 92 0 92 1.0 intronic rs2257120 SLC15A2 AU NM_001145998 exon11 c.29907+142C>T 0.451877 0.6984 Uncertain 3_121643427_G->A 3 121643427 121643427 G A snp 1086.77 1/1 81 31 0 31 1.0 intronic rs2257123 SLC15A2 AU NM_001145998 exon11 c.29907+197G>A 0.451877 0.6984 Uncertain 3_121643436_G->A 3 121643436 121643436 G A snp 859.77 1/1 63 24 0 24 1.0 intronic rs2257124 SLC15A2 AU NM_001145998 exon11 c.29907+206G>A 0.451877 0.6984 Uncertain 3_121643447_-->T 3 121643447 121643447 - T indel 513.73 1/1 51 20 0 20 1.0 intronic rs34567530 SLC15A2 AU NM_001145998 exon11 c.29907+217insT 0.451877 0.6984 Uncertain 3_121643699_G->A 3 121643699 121643699 G A snp 1509.77 1/1 99 45 0 45 1.0 intronic rs2257132 SLC15A2 AU NM_001145998 exon12 c.30468-92G>A 0.451877 0.6984 Uncertain 3_121643804_C->T 3 121643804 121643804 C T snp 5838.77 1/1 99 227 0 227 1.0 exonic rs2257212 SLC15A2 AU nonsynonymous SNV NM_001145998 exon12 c.C955T p.L319F 0.451877 0.6984 0.464780 0.4254 0.7145 0.19 T 1.000 P -0.954 T 0.06 T 0.247 T Pathogenic 3_121643893_T->C 3 121643893 121643893 T C snp 4628.77 1/1 99 163 0 163 1.0 intronic rs2257214 SLC15A2 AU NM_001145998 exon12 c.30557+13T>C 0.451877 0.6984 0.465093 0.4256 0.7148 Uncertain 3_121644029_G->T 3 121644029 121644029 G T snp 135.03 1/1 12 4 0 4 1.0 intronic rs2250065 SLC15A2 AU NM_001145998 exon12 c.30557+149G>T 0.451877 0.6984 Uncertain 3_121644030_C->T 3 121644030 121644030 C T snp 139.03 1/1 12 4 0 4 1.0 intronic rs2250067 SLC15A2 AU NM_001145998 exon12 c.30557+150C>T 0.451877 0.6984 Uncertain 3_121646495_C->T 3 121646495 121646495 C T snp 1531.77 1/1 99 49 0 49 1.0 intronic rs1882002 SLC15A2 AU NM_001145998 exon13 c.33281-109C>T 0.451877 0.6984 Uncertain 3_121646641_A->G 3 121646641 121646641 A G snp 6305.77 1/1 99 246 0 246 1.0 exonic rs1143670 SLC15A2 AU synonymous SNV NM_001145998 exon13 c.A1068G p.A356A 0.4377 0.6984 0.451330 0.4217 0.7150 Uncertain 3_121646759_G->A 3 121646759 121646759 G A snp 2467.77 1/1 99 81 0 81 1.0 intronic rs3762819 SLC15A2 AU NM_001145998 exon13 c.33363+73G>A 0.451877 0.6984 Uncertain 3_121647286_C->T 3 121647286 121647286 C T snp 2194.77 1/1 99 80 0 80 1.0 exonic rs1143671 SLC15A2 AU nonsynonymous SNV NM_001145998 exon14 c.C1132T p.P378S 0.451877 0.6984 0.465554 0.4258 0.7145 0.04 T 0.000 P -0.949 T 0.96 D 0.86 D Pathogenic 3_121647467_C->T 3 121647467 121647467 C T snp 436.77 1/1 33 12 0 12 1.0 intronic rs1316301 SLC15A2 AU NM_001145998 exon14 c.34079+65C>T 0.451877 0.6984 Uncertain 3_121647782_C->G 3 121647782 121647782 C G snp 888.77 1/1 66 22 0 22 1.0 intronic rs1316397 SLC15A2 AU NM_001145998 exon15 c.34505-46C>G 0.451877 0.6984 0.465549 0.4302 0.7141 Uncertain 3_121648168_G->A 3 121648168 121648168 G A snp 7510.77 1/1 99 250 0 250 1.0 exonic rs1143672 SLC15A2 AU nonsynonymous SNV NM_001145998 exon16 c.G1433A p.R478K 0.451877 0.6984 0.465477 0.4255 0.7141 1 T 0.0 P -0.983 T 0.0 T 0.0 T Pathogenic 3_121658082_A->G 3 121658082 121658082 A G snp 1627.77 1/1 99 45 0 45 1.0 intronic rs874741 SLC15A2 AU NM_001145998 exon19 c.44872-113A>G 0.448482 0.7004 Uncertain 3_121659197_G->A 3 121659197 121659197 G A snp 1761.77 1/1 99 63 0 63 1.0 intronic rs3817599 SLC15A2 AU NM_001145998 exon20 c.45907-33G>A 0.724441 0.87 0.754267 0.7466 0.8796 Uncertain 3_121712051_A->C 3 121712051 121712051 A C snp 5291.77 1/1 99 199 0 199 1.0 exonic rs2877561 ILDR1 AR synonymous SNV NM_001199799 exon7 c.T1545G p.L515L 0.784944 0.9196 0.747809 0.7394 0.9314 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_multiple_submitters\x2c_no_conflicts;CLNACC=RCV000037117.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 3_121712980_C->T 3 121712980 121712980 C T snp 5224.77 1/1 99 182 0 182 1.0 intronic rs3915060 ILDR1 AR NM_001199800 exon3 c.5815-48C>T 0.783347 0.8948 0.7300 0.8715 Uncertain 3_121720515_T->- 3 121720515 121720515 T - indel 235.73 0/1 76 25 7 18 0.72 intronic rs35657414 ILDR1 AR NM_175924 exon4 c.13378-76delT Uncertain 3_121810428_T->- 3 121810428 121810428 T - indel 6143.73 1/1 99 223 1 222 1.0 intronic rs57304749 CD86 AU NM_001206924 exon2 c.36111-19delT 0.994609 1 0.995847 0.9987 1 Uncertain 3_121825197_G->A 3 121825197 121825197 G A snp 6291.77 1/1 99 212 1 211 1.0 exonic rs2681417 CD86 AU nonsynonymous SNV NM_006889 exon4 c.G535A p.V179I 0.868011 0.998 0.848301 0.9138 0.9983 0.29 T 0.0 P -1.015 T 0.009 T 0.012 T ID=CM072925;DIS=Asthma, association with;TAG=DP;PUB=17513529 DP Pathogenic 3_121836967_GA->- 3 121836967 121836968 GA - indel 4034.73 1/1 99 93 0 93 1.0 intronic rs10580127 CD86 AU NM_001206925 exon5 c.14400+27_14400+28delGA 1 1 0.999681 1.0000 1 Uncertain 3_121838319_G->A 3 121838319 121838319 G A snp 779.77 0/1 99 76 41 35 0.46 exonic rs1129055 CD86 AU nonsynonymous SNV NM_006889 exon7 c.G910A p.A304T 0.342652 0.5972 0.229971 0.3052 0.6095 0.14 T 0.0 P -0.922 T 0.932 T 0.638 D ID=CM058363;DIS=Liver transplant, reduced risk of acute rejection;TAG=DP;PUB=16223675 DP Pathogenic 3_121973114_C->G 3 121973114 121973114 C G snp 659.77 0/1 99 64 35 29 0.45 exonic rs77852524 CASR AU,AD,AR synonymous SNV NM_000388 exon2 c.C78G p.A26A 0.0111821 0.0536 0.000077 0.0044 0.0586 Uncertain 3_121976253_G->A 3 121976253 121976253 G A snp 882.77 1/1 66 25 0 25 1.0 intronic rs9869985 CASR AU,AD,AR NM_001178065 exon3 c.3198+19G>A 0.921925 0.9802 0.912348 0.9437 0.9834 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=Familial_hypocalciuric_hypercalcemia|not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter|criteria_provided\x2c_single_submitter;CLNACC=RCV000029451.1|RCV000078686.3;CLNDSDB=MedGen:Orphanet:SNOMED_CT|MedGen;CLNDSDBID=C0342637:ORPHA405:190868007|CN169374 Uncertain 3_121980284_C->T 3 121980284 121980284 C T snp 156.77 0/1 96 8 3 5 0.63 intronic rs3749208 CASR AU,AD,AR NM_001178065 exon4 c.7338-90C>T 0.353235 0.5556 Uncertain 3_121994941_G->A 3 121994941 121994941 G A snp 180.77 0/1 99 26 18 8 0.31 intronic rs2279802 CASR AU,AD,AR NM_001178065 exon5 c.21853+52G>A 0.208866 0.5188 0.064117 0.1479 0.5312 Uncertain 3_122000871_C->T 3 122000871 122000871 C T snp 1163.77 0/1 99 99 48 51 0.52 intronic rs4678174 CASR AU,AD,AR NM_001178065 exon6 c.27893-58C>T 0.538139 0.5605 Uncertain 3_122001099_T->C 3 122001099 122001099 T C snp 462.77 0/1 99 45 21 24 0.53 intronic rs2270916 CASR AU,AD,AR NM_001178065 exon6 c.28047+16T>C 0.143171 0.3948 0.112794 0.1300 0.3994 Uncertain 3_122003045_G->C 3 122003045 122003045 G C snp 7578.77 1/1 99 250 0 250 1.0 exonic rs2036400 CASR AU,AD,AR synonymous SNV NM_000388 exon7 c.G2244C p.P748P 0.972843 1 0.972009 0.9916 1 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000152932.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 3_122003769_A->G 3 122003769 122003769 A G snp 3162.77 0/1 99 249 126 123 0.49 exonic rs1042636 CASR AU,AD,AR nonsynonymous SNV NM_000388 exon7 c.A2968G p.R990G 0.20647 0.5198 0.062894 0.1451 0.5316 0 D 0.985 P -0.936 T 0.319 T 0.051 T ID=CM044584;DIS=Colorectal adenoma, risk, association with;TAG=DFP;PUB=15598778 DFP Pathogenic 3_122003832_G->C 3 122003832 122003832 G C snp 6965.77 1/1 99 241 0 241 1.0 exonic rs1801726 CASR AU,AD,AR nonsynonymous SNV NM_000388 exon7 c.G3031C p.E1011Q 0.924121 0.9802 0.917807 0.9446 0.9835 1 T 0.000 P -0.937 T 0.0 T 0.0 T CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000152934.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 ID=CM045983;DIS=Increased blood ionised calcium level;TAG=FP;PUB=15531522 FP Pathogenic 3_122004098_A->T 3 122004098 122004098 A T snp 730.77 1/1 54 28 0 28 1.0 UTR3 rs4677948 CASR AU,AD,AR 0.920128 0.9802 Uncertain 3_122081659_A->G 3 122081659 122081659 A G snp 335.77 0/1 99 100 79 21 0.21 intronic rs9857709 CCDC58 AU NM_001017928 exon2 c.3099-155A>G 0.427316 0.4752 Uncertain 3_122081660_A->C 3 122081660 122081660 A C snp 413.77 0/1 99 101 81 20 0.2 intronic rs9857710 CCDC58 AU NM_001017928 exon2 c.3099-154A>C 0.606829 0.6935 Uncertain 3_122103120_G->A 3 122103120 122103120 G A snp 1332.77 0/1 99 122 64 58 0.48 exonic rs115407410 FAM162A AU nonsynonymous SNV NM_014367 exon1 c.G8A p.S3N 0.0389377 0.0833 0.012516 0.0577 0.1994 0.01 T 0.999 N -1.055 T 0.155 T 0.07 T Pathogenic 3_122128466_G->C 3 122128466 122128466 G C snp 2051.77 1/1 99 65 0 65 1.0 intronic rs4306808 FAM162A AU NM_014367 exon5 c.25473-119G>C 0.832468 0.9117 Uncertain 3_122128757_T->C 3 122128757 122128757 T C snp 2362.77 1/1 99 85 1 84 0.99 UTR3 rs16833120 FAM162A AU 0.0738818 0.129 0.0646 0.1736 Uncertain 3_122145810_T->A 3 122145810 122145810 T A snp 1112.77 1/1 84 36 1 35 0.97 ncRNA_intronic rs4677950 LOC102723582 AU 0.978035 1 0.972551 0.9925 1 Uncertain 3_122186188_C->T 3 122186188 122186188 C T snp 4056.77 1/1 99 150 0 150 1.0 exonic rs4678193 KPNA1 AU nonsynonymous SNV NM_002264 exon3 c.G218A p.S73N 0.99381 1 0.992771 0.9980 1 0.75 T 0.000 P -0.935 T 0.0 T 0.005 T Pathogenic 3_122247606_A->G 3 122247606 122247606 A G snp 484.77 0/1 99 51 28 23 0.45 intronic rs7628052 PARP9 AU NM_031458 exon1 c.380+16A>G 0.195887 0.2192 0.213526 0.2546 0.2244 Uncertain 3_122259606_T->C 3 122259606 122259606 T C snp 2691.77 0/1 99 207 92 115 0.56 exonic rs9851180 PARP9 AU nonsynonymous SNV NM_001146102 exon8 c.A1583G p.Y528C 0.506589 0.6548 0.534138 0.5385 0.6569 0.06 T 0.0 P -0.914 T 0.0 T 0.0 T Pathogenic 3_122259738_-->T 3 122259738 122259738 - T indel 200.73 0/1 99 66 18 48 0.73 intronic rs145948621 PARP9 AU NM_031458 exon4 c.12489+39insT 0.1088 0.1200 Uncertain 3_122259745_G->T 3 122259745 122259745 G T snp 993.77 0/1 99 56 17 39 0.7 intronic rs9831600 PARP9 AU NM_031458 exon4 c.12489+46G>T 0.296925 0.3948 0.3927 0.5327 Uncertain 3_122259782_A->G 3 122259782 122259782 A G snp 440.78 0/1 24 15 2 13 0.87 intronic rs9868934 PARP9 AU NM_031458 exon4 c.12489+83A>G 0.647963 0.7738 Uncertain 3_122274757_G->C 3 122274757 122274757 G C snp 1692.77 0/1 99 177 99 78 0.44 exonic rs73192127 PARP9 AU synonymous SNV NM_001146102 exon4 c.C366G p.V122V 0.1873 0.2312 0.206059 0.2410 0.2274 Uncertain 3_122285005_G->A 3 122285005 122285005 G A snp 208.77 0/1 99 25 15 10 0.4 intronic rs12485294 DTX3L AU NM_138287 exon2 c.1644+88G>A 0.546725 0.6607 Uncertain 3_122288210_G->A 3 122288210 122288210 G A snp 2431.77 0/1 99 207 103 104 0.5 exonic rs2332285 DTX3L AU nonsynonymous SNV NM_138287 exon3 c.G1274A p.R425K 0.545927 0.6597 0.544364 0.5667 0.6667 1 T 1.000 P -0.933 T 0.0 T 0.0 T Pathogenic 3_122290579_C->T 3 122290579 122290579 C T snp 2322.77 1/1 99 87 0 87 1.0 exonic rs2036342 DTX3L AU synonymous SNV NM_138287 exon5 c.C2208T p.A736A 0.34345 0.4355 0.307166 0.3237 0.4329 Uncertain 3_122296638_G->A 3 122296638 122296638 G A snp 2350.77 0/1 99 206 101 105 0.51 exonic rs1875272 PARP15 AU nonsynonymous SNV NM_001113523 exon1 c.G124A p.V42M 0.236022 0.247 0.2009 0.2176 0.07 T 0.000 P -0.909 T 0.678 T 0.03 P Pathogenic 3_122354037_A->G 3 122354037 122354037 A G snp 2695.77 0/1 99 220 111 109 0.5 exonic rs1106346 PARP15 AU synonymous SNV NM_152615 exon7 c.A1041G p.K347K 0.358227 0.5 0.332001 0.3685 0.4735 Uncertain 3_122354052_A->G 3 122354052 122354052 A G snp 2270.77 0/1 99 198 104 94 0.47 intronic rs1106345 PARP15 AU NM_001113523 exon11 c.57527+11A>G 0.240216 0.4911 0.144318 0.1874 0.4682 Uncertain 3_122354792_G->A 3 122354792 122354792 G A snp 2798.77 0/1 99 224 109 115 0.51 exonic rs12489170 PARP15 AU nonsynonymous SNV NM_152615 exon8 c.G1180A p.G394R 0.221645 0.4881 0.126788 0.1805 0.4671 0.03 T 1.000 P -0.903 T 1.0 D 1.0 D Pathogenic 3_122406077_G->A 3 122406077 122406077 G A snp 1230.77 0/1 99 89 34 55 0.62 intronic rs790131 PARP14 AU NM_017554 exon3 c.6230+117G>A 0.495208 0.5565 Uncertain 3_122437321_T->C 3 122437321 122437321 T C snp 6998.77 1/1 99 248 0 248 1.0 exonic rs7645033 PARP14 AU synonymous SNV NM_017554 exon14 c.T4323C p.Y1441Y 0.91873 0.9802 0.887259 0.9016 0.9846 Uncertain 3_122437834_A->G 3 122437834 122437834 A G snp 1753.77 0/1 99 176 101 75 0.43 intronic rs3821688 PARP14 AU NM_017554 exon14 c.38075+29A>G 0.41853 0.3175 0.475517 0.5253 0.3514 Uncertain 3_122471408_A->- 3 122471408 122471408 A - indel 141.06 0/1 99 32 20 12 0.38 intronic rs559581794 HSPBAP1 AU NM_024610 exon3 c.12246-29delA 0.549321 0.4554 0.4666 0.3646 Uncertain 3_122474305_C->A 3 122474305 122474305 C A snp 118.77 0/1 99 9 4 5 0.56 intronic rs6794019 HSPBAP1 AU NM_024610 exon4 c.15087+27C>A 0.495008 0.4415 0.561938 0.6074 0.4491 Uncertain 3_122477795_G->A 3 122477795 122477795 G A snp 432.77 0/1 99 37 22 15 0.41 intronic rs2137210 HSPBAP1 AU NM_024610 exon5 c.18879-275G>A 0.502396 0.4464 Uncertain 3_122598291_A->G 3 122598291 122598291 A G snp 486.77 0/1 99 38 19 19 0.5 UTR3 rs2288677 DIRC2 AU 0.497204 0.6875 Uncertain 3_122605544_G->A 3 122605544 122605544 G A snp 1860.77 0/1 99 154 75 79 0.51 ncRNA_exonic rs9864868 LOC100129550 AU 0.437899 0.2937 0.5510 0.2576 Uncertain 3_122605701_T->A 3 122605701 122605701 T A snp 708.77 0/1 99 63 36 27 0.43 ncRNA_exonic rs6438769 LOC100129550 AU 0.261581 0.4792 0.3269 0.5083 Uncertain 3_122630323_T->G 3 122630323 122630323 T G snp 504.77 0/1 99 42 19 23 0.55 intronic rs2303982 SEMA5B AU NM_001256348 exon3 c.1348-14T>G 0.607428 0.3552 0.746039 0.7378 0.3732 0.12 T 0.0 P -1.058 T Uncertain 3_122630346_T->C 3 122630346 122630346 T C snp 508.77 0/1 99 34 13 21 0.62 exonic rs2303983 SEMA5B AU nonsynonymous SNV NM_001256348 exon20 c.A2801G p.D934G 0.607827 0.3571 0.746194 0.7347 0.3665 0.31 T 0.000 P -1.040 T 0.0 T 0.001 T Pathogenic 3_122631896_A->T 3 122631896 122631896 A T snp 929.77 0/1 99 60 24 36 0.6 exonic rs2276782 SEMA5B AU nonsynonymous SNV NM_001256348 exon17 c.T2345A p.V782D 0.601038 0.3522 0.774895 0.7741 0.4446 1 T 0.800 P -0.962 T 0.0 T 0.0 T Pathogenic 3_122640851_G->C 3 122640851 122640851 G C snp 566.77 0/1 99 57 33 24 0.42 exonic rs777258995 SEMA5B AU nonsynonymous SNV NM_001256348 exon11 c.C1425G p.I475M 0.0001 0 0.02 T 1.000 D -0.666 T 0.988 D 0.952 D Pathogenic 3_122642401_G->A 3 122642401 122642401 G A snp 648.77 0/1 99 70 41 29 0.41 intronic rs2276780 SEMA5B AU NM_001256348 exon14 c.13474-62G>A 0.41234 0.3006 Uncertain 3_122642415_G->C 3 122642415 122642415 G C snp 759.77 0/1 99 75 42 33 0.44 intronic rs2276779 SEMA5B AU NM_001256348 exon14 c.13474-48G>C 0.414936 0.3006 0.530217 0.5597 0.2814 Uncertain 3_122642590_G->A 3 122642590 122642590 G A snp 445.77 0/1 99 42 22 20 0.48 exonic rs2276778 SEMA5B AU synonymous SNV NM_001256348 exon9 c.C972T p.I324I 0.416334 0.3006 0.532293 0.5612 0.2798 Uncertain 3_122658417_G->T 3 122658417 122658417 G T snp 401.77 0/1 99 25 12 13 0.52 intronic rs3732827 SEMA5B AU NM_001256348 exon19 c.29328+100G>T 0.1873 0.3264 Uncertain 3_122679859_G->A 3 122679859 122679859 G A snp 54.74 1/1 6 2 0 2 1.0 intronic rs75405353 SEMA5B AU NM_001031702 exon22 c.50997-127G>A 0.0197684 0.0942 Uncertain 3_122680141_A->G 3 122680141 122680141 A G snp 1369.77 0/1 99 119 56 63 0.53 exonic rs13094003 SEMA5B AU synonymous SNV NM_001256347 exon2 c.T132C p.G44G 0.255192 0.3512 0.224742 0.2403 0.3843 Uncertain 3_122680171_A->G 3 122680171 122680171 A G snp 1197.77 0/1 99 101 48 53 0.52 intronic rs4677985 SEMA5B AU NM_001031702 exon22 c.51159+23A>G 0.605032 0.7202 0.5334 0.7298 Uncertain 3_122680240_C->A 3 122680240 122680240 C A snp 627.77 0/1 99 46 22 24 0.52 intronic rs34020905 SEMA5B AU NM_001031702 exon22 c.51159+92C>A 0.255192 0.3512 Uncertain 3_122694820_A->T 3 122694820 122694820 A T snp 834.77 0/1 99 107 67 40 0.37 intronic rs895076 SEMA5B AU NM_001256347 exon23 c.65857-26A>T 0.302915 0.1419 0.2466 0.1761 Uncertain 3_122694930_C->T 3 122694930 122694930 C T snp 1283.77 0/1 99 148 88 60 0.41 exonic rs9968193 SEMA5B AU nonsynonymous SNV NM_001256347 exon1 c.G41A p.R14K 0.190695 0.1121 0.0948 0.1594 0 D 0.498 P -0.919 T Pathogenic 3_122807995_G->A 3 122807995 122807995 G A snp 1588.77 1/1 99 54 0 54 1.0 intronic rs836860 PDIA5 AU NM_006810 exon2 c.22003-19G>A 0.451078 0.496 0.504613 0.5566 0.4848 Uncertain 3_122811042_A->G 3 122811042 122811042 A G snp 610.77 1/1 45 18 0 18 1.0 intronic rs836863 PDIA5 AU NM_006810 exon3 c.25190-159A>G 0.9998 1 Uncertain 3_122821108_C->T 3 122821108 122821108 C T snp 1415.77 1/1 99 41 0 41 1.0 intronic rs2717233 PDIA5 AU NM_006810 exon4 c.35246-149C>T 0.778554 0.7728 Uncertain 3_122821385_T->C 3 122821385 122821385 T C snp 4769.77 1/1 99 160 0 160 1.0 intronic rs2241961 PDIA5 AU NM_006810 exon4 c.35330+44T>C 0.834265 0.7748 0.907350 0.9117 0.7658 Uncertain 3_122821478_T->A 3 122821478 122821478 T A snp 1072.77 1/1 81 31 0 31 1.0 intronic rs2241962 PDIA5 AU NM_006810 exon5 c.35586-119T>A 0.777157 0.7738 Uncertain 3_122821671_A->G 3 122821671 122821671 A G snp 3200.06 1/1 99 115 0 115 1.0 intronic rs2241963 PDIA5 AU NM_006810 exon5 c.35632+28A>G 0.776757 0.7649 0.617330 0.8724 0.7554 Uncertain 3_122821672_T->A 3 122821672 122821672 T A snp 3195.8 1/1 99 115 0 115 1.0 intronic rs61182591 PDIA5 AU NM_006810 exon5 c.35632+29T>A 0.776757 0.7649 0.599185 0.8723 0.7552 Uncertain 3_122864436_G->A 3 122864436 122864436 G A snp 2732.77 1/1 99 101 0 101 1.0 exonic rs8739 PDIA5 AU synonymous SNV NM_006810 exon12 c.G978A p.A326A 0.695288 0.8155 0.593495 0.6027 0.8216 Uncertain 3_122864627_C->G 3 122864627 122864627 C G snp 99.28 1/1 9 3 0 3 1.0 intronic rs1976715 PDIA5 AU NM_006810 exon12 c.78428+188C>G 0.733427 0.8165 Uncertain 3_122865136_T->A 3 122865136 122865136 T A snp 2292.77 1/1 99 89 0 89 1.0 intronic rs2673345 PDIA5 AU NM_006810 exon13 c.79095+30T>A 0.58746 0.8165 0.480701 0.5720 0.8218 Uncertain 3_122865263_C->T 3 122865263 122865263 C T snp 90.28 1/1 9 3 0 3 1.0 intronic rs2673344 PDIA5 AU NM_006810 exon13 c.79095+157C>T 0.998003 1 Uncertain 3_122873923_G->C 3 122873923 122873923 G C snp 2999.77 1/1 99 113 0 113 1.0 intronic rs2717225 PDIA5 AU NM_006810 exon15 c.87877+35G>C 0.515775 0.5228 0.496233 0.5016 0.5439 Uncertain 3_122880118_G->A 3 122880118 122880118 G A snp 436.77 0/1 99 38 21 17 0.45 intronic rs3828393 PDIA5 AU NM_006810 exon16 c.94156-49G>A 0.332268 0.3462 0.274719 0.2902 0.3535 Uncertain 3_122942358_A->G 3 122942358 122942358 A G snp 604.77 0/1 99 52 31 21 0.4 intronic rs1546605 SEC22A AU NM_012430 exon3 c.14341-47A>G 0.186701 0.1091 0.194556 0.1969 0.1087 Uncertain 3_122942402_G->A 3 122942402 122942402 G A snp 1251.77 0/1 99 119 66 53 0.45 splicing rs1546604 SEC22A AU NM_012430 exon3 c.14341-3G>A 0.186701 0.1091 0.195064 0.1975 0.1086 Pathogenic 3_122964900_C->G 3 122964900 122964900 C G snp 2147.77 0/1 99 172 83 89 0.52 intronic rs12493729 SEC22A AU NM_012430 exon5 c.36797+39C>G 0.188698 0.12 0.194833 0.1995 0.1179 Uncertain 3_122978486_G->A 3 122978486 122978486 G A snp 373.77 0/1 99 57 39 18 0.32 intronic rs9289216 SEC22A AU NM_012430 exon6 c.50372+50G>A 0.188898 0.12 0.194184 0.2048 0.1201 Uncertain 3_122990291_C->T 3 122990291 122990291 C T snp 284.77 0/1 99 30 19 11 0.37 intronic rs9860349 SEC22A AU NM_012430 exon7 c.62304-77C>T 0.188698 0.12 Uncertain 3_123008519_T->G 3 123008519 123008519 T G snp 99.28 1/1 9 4 0 4 1.0 intronic rs4677881 ADCY5 AD NM_183357 exon3 c.5142-77T>G 0.997204 1 Uncertain 3_123010276_G->A 3 123010276 123010276 G A snp 2802.77 0/1 99 217 103 114 0.53 intronic rs9809236 ADCY5 AD NM_183357 exon4 c.6769+53G>A 0.182907 0.1657 Uncertain 3_123010363_C->T 3 123010363 123010363 C T snp 351.77 0/1 99 48 34 14 0.29 intronic rs56066738 ADCY5 AD NM_183357 exon4 c.6769+140C>T 0.146565 0.123 Uncertain 3_123014877_C->T 3 123014877 123014877 C T snp 326.77 0/1 99 20 10 10 0.5 intronic rs9881951 ADCY5 AD NM_183357 exon5 c.11476-53C>T 0.720647 0.876 Uncertain 3_123015094_G->C 3 123015094 123015094 G C snp 3804.77 1/1 99 143 0 143 1.0 intronic rs9882534 ADCY5 AD NM_183357 exon5 c.11609+31G>C 0.984026 1 0.985853 0.9958 1 Uncertain 3_123018963_A->G 3 123018963 123018963 A G snp 1600.77 0/1 99 136 67 69 0.51 splicing rs4482616 ADCY5 AD NM_183357 exon7 c.15512-3A>G 0.806709 0.875 0.800938 0.8010 0.8806 Pathogenic 3_123021838_A->G 3 123021838 123021838 A G snp 691.77 1/1 51 21 0 21 1.0 intronic rs9877581 ADCY5 AD NM_183357 exon8 c.18447-63A>G 0.983427 0.997 Uncertain 3_123021870_G->C 3 123021870 123021870 G C snp 1055.77 1/1 75 37 0 37 1.0 intronic rs9844212 ADCY5 AD NM_183357 exon8 c.18447-31G>C 0.441693 0.2788 0.554436 0.5270 0.3058 Uncertain 3_123022740_G->A 3 123022740 123022740 G A snp 584.77 1/1 45 18 0 18 1.0 intronic rs4333033 ADCY5 AD NM_183357 exon9 c.19459-173G>A Uncertain 3_123036721_C->T 3 123036721 123036721 C T snp 186.77 0/1 99 15 8 7 0.47 intronic rs117972536 ADCY5 AD NM_183357 exon11 c.33412-145C>T 0.00579073 0.0288 Uncertain 3_123037047_A->C 3 123037047 123037047 A C snp 309.78 1/1 24 8 0 8 1.0 intronic rs4327330 ADCY5 AD NM_183357 exon11 c.33510+83A>C 0.996206 1 Uncertain 3_123047478_A->G 3 123047478 123047478 A G snp 2083.77 0/1 99 163 74 89 0.55 intronic rs9855635 ADCY5 AD NM_183357 exon16 c.44036-12A>G 0.215256 0.244 0.289251 0.3044 0.2675 Uncertain 3_123047666_A->G 3 123047666 123047666 A G snp 3121.77 1/1 99 109 0 109 1.0 intronic rs9855969 ADCY5 AD NM_183357 exon16 c.44195+17A>G 0.885184 0.9643 0.862602 0.8515 0.9641 Uncertain 3_123049678_C->T 3 123049678 123049678 C T snp 562.77 0/1 99 30 11 19 0.63 intronic rs4678009 ADCY5 AD NM_183357 exon17 c.46281-57C>T 0.297724 0.5099 Uncertain 3_123049707_G->T 3 123049707 123049707 G T snp 577.77 0/1 99 56 30 26 0.46 intronic rs9829332 ADCY5 AD NM_183357 exon17 c.46281-28G>T 0.234824 0.2421 0.318315 0.2982 0.2656 Uncertain 3_123049938_A->C 3 123049938 123049938 A C snp 1019.77 1/1 75 28 0 28 1.0 intronic rs6806529 ADCY5 AD NM_183357 exon17 c.46409+75A>C 0.692292 0.9573 Uncertain 3_123051230_G->A 3 123051230 123051230 G A snp 46.77 0/1 33 3 1 2 0.67 intronic rs9839081 ADCY5 AD NM_183357 exon18 c.47956-180G>A 0.173123 0.2252 Uncertain 3_123066485_G->T 3 123066485 123066485 G T snp 81.28 1/1 9 3 0 3 1.0 intronic rs6438788 ADCY5 AD NM_183357 exon19 c.63174-143G>T 0.458866 0.6935 Uncertain 3_123066555_-->AAGG 3 123066555 123066555 - AAGG indel 2537.73 1/1 99 39 0 39 1.0 intronic rs10640874 ADCY5 AD NM_183357 exon19 c.63174-73insAAGG Uncertain 3_123134954_T->G 3 123134954 123134954 T G snp 1490.77 1/1 99 43 0 43 1.0 intronic rs9875087 ADCY5 AD NM_001199642 exon21 c.131576-76T>G 0.242812 0.3442 Uncertain 3_123135244_G->A 3 123135244 123135244 G A snp 1952.77 1/1 99 63 1 62 0.98 intronic rs7641344 ADCY5 AD NM_001199642 exon21 c.131735+55G>A 0.184505 0.3433 Uncertain 3_123167249_G->A 3 123167249 123167249 G A snp 1320.77 1/1 96 48 1 47 0.98 exonic rs4678027 ADCY5 AD synonymous SNV NM_183357 exon1 c.C144T p.G48G 0.986621 1 0.991266 0.9987 1 Uncertain 3_123213895_T->C 3 123213895 123213895 T C snp 73.77 0/1 99 11 7 4 0.36 intronic rs3821407 HACD2 AU NM_198402 exon1 c.83+78T>C 0.086861 0.2679 Uncertain 3_123247151_T->C 3 123247151 123247151 T C snp 993.77 0/1 99 108 64 44 0.41 intronic rs16834399 HACD2 AU NM_198402 exon4 c.33498-81T>C 0.0860623 0.2629 Uncertain 3_123301242_C->G 3 123301242 123301242 C G snp 1571.77 1/1 99 52 0 52 1.0 intronic rs820469 HACD2 AU NM_198402 exon6 c.87442+66C>G 0.508786 0.6141 Uncertain 3_123303821_G->C 3 123303821 123303821 G C snp 804.77 1/1 57 32 0 32 1.0 exonic rs1271004 HACD2 AU synonymous SNV NM_198402 exon1 c.C54G p.G18G 0.405751 0.629 0.163050 0.3267 0.6311 Uncertain 3_123303824_A->G 3 123303824 123303824 A G snp 349.77 0/1 99 32 16 16 0.5 exonic rs112371142 HACD2 AU synonymous SNV NM_198402 exon1 c.T51C p.G17G 0.189297 0.372 0.022881 0.1049 0.4074 Uncertain 3_123303960_C->A 3 123303960 123303960 C A snp 654.77 1/1 48 25 1 24 0.96 upstream rs820468 HACD2 AU 0.511781 0.627 Uncertain 3_123333228_G->C 3 123333228 123333228 G C snp 383.77 0/1 99 29 15 14 0.48 ncRNA_intronic rs60174052 MYLK-AS1 AU 0.077476 0.2381 0.010149 0.0400 0.2264 Uncertain 3_123337414_C->G 3 123337414 123337414 C G snp 1083.77 1/1 81 36 0 36 1.0 ncRNA_intronic rs860224 MYLK-AS1 AU 0.511382 0.6329 Uncertain 3_123338951_-->A 3 123338951 123338951 - A indel 301.73 1/1 49 40 4 36 0.9 ncRNA_intronic rs371409878 MYLK-AS1 AU Uncertain 3_123348179_A->G 3 123348179 123348179 A G snp 99.28 1/1 9 3 0 3 1.0 ncRNA_intronic rs820447 MYLK-AS1 AU 0.459864 0.629 Uncertain 3_123357037_A->G 3 123357037 123357037 A G snp 1548.77 1/1 99 59 0 59 1.0 exonic rs820463 MYLK AD synonymous SNV NM_053025 exon29 c.T4842C p.N1614N 0.374401 0.6399 0.197909 0.2182 0.6118 Uncertain 3_123357062_G->C 3 123357062 123357062 G C snp 1345.77 1/1 96 48 0 48 1.0 intronic rs820464 MYLK AD NM_053026 exon6 c.24090+21G>C 0.3748 0.6399 0.197678 0.2173 0.6089 Uncertain 3_123368013_A->G 3 123368013 123368013 A G snp 726.77 1/1 54 22 0 22 1.0 exonic rs1254392 MYLK AD synonymous SNV NM_053025 exon25 c.T4317C p.D1439D 0.396166 0.6448 0.224589 0.2304 0.6259 Uncertain 3_123411522_G->C 3 123411522 123411522 G C snp 633.77 0/1 99 35 15 20 0.57 intronic rs2305631 MYLK AD NM_053026 exon16 c.78630-59G>C 0.140176 0.4653 Uncertain 3_123418913_G->A 3 123418913 123418913 G A snp 6694.77 1/1 99 249 0 249 1.0 exonic rs865358 MYLK AD synonymous SNV NM_053025 exon18 c.C3402T p.N1134N 0.947883 1 0.941642 0.9824 0.9998 Uncertain 3_123419117_TTC->- 3 123419117 123419119 TTC - indel 4923.73 0/1 99 250 147 103 0.41 exonic rs372794395 MYLK AD nonframeshift deletion NM_053025 exon18 c.3196_3198del p.1066_1066del 0.151757 0.498 0.018288 0.0684 0.5042 Uncertain 3_123419288_C->T 3 123419288 123419288 C T snp 1840.77 0/1 99 175 104 71 0.41 exonic rs12172926 MYLK AD synonymous SNV NM_053025 exon18 c.G3027A p.E1009E 0.169129 0.4891 0.036522 0.0748 0.5045 Uncertain 3_123419573_G->T 3 123419573 123419573 G T snp 2409.77 0/1 99 250 151 99 0.4 exonic rs3732487 MYLK AD nonsynonymous SNV NM_053025 exon18 c.C2742A p.D914E 0.226038 0.5496 0.050131 0.1036 0.5562 0.56 T 0.140 P -0.914 T 0.012 T 0.02 T Pathogenic 3_123419733_A->G 3 123419733 123419733 A G snp 955.77 0/1 99 91 56 35 0.38 exonic rs3732486 MYLK AD nonsynonymous SNV NM_053025 exon18 c.T2582C p.L861P 0.278954 0.5526 0.099877 0.1210 0.5579 0.3 T 1.0 P -0.952 T 0.0 T 0.001 T Pathogenic 3_123420426_G->A 3 123420426 123420426 G A snp 101.77 0/1 99 14 10 4 0.29 intronic rs57186134 MYLK AD NM_053026 exon18 c.87405+70G>A 0.244609 0.5486 Uncertain 3_123426984_T->C 3 123426984 123426984 T C snp 139.03 1/1 12 4 0 4 1.0 intronic rs7641248 MYLK AD NM_053026 exon19 c.93899+134T>C 0.233826 0.4821 Uncertain 3_123440967_G->A 3 123440967 123440967 G A snp 5311.77 1/1 99 197 0 197 1.0 intronic rs820355 MYLK AD NM_053026 exon22 c.108023-7G>A 0.913538 1 0.908796 0.9722 0.9995 Uncertain 3_123445070_T->C 3 123445070 123445070 T C snp 269.8 1/1 21 8 0 8 1.0 intronic rs820330 MYLK AD NM_053026 exon23 c.111974+145T>C 0.981629 1 Uncertain 3_123451773_G->C 3 123451773 123451773 G C snp 2590.77 1/1 99 88 0 88 1.0 exonic rs9833275 MYLK AD nonsynonymous SNV NM_053025 exon11 c.C1486G p.L496V 0.999002 1 0.998616 0.9996 1 0.46 T 1.000 P -0.958 T 0.0 T 0.001 T Pathogenic 3_123452838_G->A 3 123452838 123452838 G A snp 3224.61 1/1 99 110 2 108 0.98 exonic rs4678047 MYLK AD synonymous SNV NM_053025 exon10 c.C1005T p.T335T 0.632788 0.9375 0.574350 0.6566 0.9416 Uncertain 3_123453061_A->G 3 123453061 123453061 A G snp 634.77 0/1 99 51 24 27 0.53 exonic rs3796164 MYLK AD nonsynonymous SNV NM_053025 exon10 c.T782C p.V261A 0.301917 0.4573 0.156312 0.1132 0.4686 1 T 0.0 P -0.966 T 0.009 T 0.004 T Pathogenic 3_123456432_C->T 3 123456432 123456432 C T snp 3751.77 1/1 99 128 0 128 1.0 intronic rs2168439 MYLK AD NM_053026 exon26 c.123439+42C>T 0.938498 0.999 0.929494 0.9798 0.9999 Uncertain 3_123457711_C->A 3 123457711 123457711 C A snp 1981.77 1/1 99 62 0 62 1.0 intronic rs2198766 MYLK AD NM_053026 exon27 c.124792-32C>A 0.929513 1 0.920037 0.9755 0.9998 Uncertain 3_123457893_G->A 3 123457893 123457893 G A snp 5694.77 1/1 99 203 0 203 1.0 exonic rs9840993 MYLK AD nonsynonymous SNV NM_053025 exon7 c.C439T p.P147S 0.85623 0.9435 0.872443 0.9445 0.9383 0.35 T 1.000 P -0.986 T 0.291 T 0.111 T ID=CM088407;DIS=Acute lung injury, in major trauma, association with;TAG=DFP;PUB=18828194 DFP Pathogenic 3_123633612_G->A 3 123633612 123633612 G A snp 515.77 0/1 99 45 23 22 0.49 UTR3 rs11551801 CCDC14 AU 0.375 0.1121 0.595883 0.6682 0.1588 Uncertain 3_123634046_G->A 3 123634046 123634046 G A snp 3965.77 1/1 99 143 0 143 1.0 exonic rs2700373 CCDC14 AU synonymous SNV NM_022757 exon12 c.C2319T p.S773S 0.842452 0.8859 0.808319 0.7938 0.9139 Uncertain 3_123650417_A->G 3 123650417 123650417 A G snp 102.77 0/1 99 10 6 4 0.4 intronic rs2271968 CCDC14 AU NM_022757 exon3 c.16748+44A>G 0.0253594 0.12 0.0050 0.1275 Uncertain 3_123650432_A->G 3 123650432 123650432 A G snp 114.77 0/1 99 8 4 4 0.5 intronic rs2271969 CCDC14 AU NM_022757 exon3 c.16748+59A>G 0.316893 0.0992 Uncertain 3_123652476_G->A 3 123652476 123652476 G A snp 1964.77 1/1 99 71 0 71 1.0 intronic rs6784695 CCDC14 AU NM_022757 exon4 c.18894-43G>A 0.84385 0.8869 0.819215 0.7964 0.9041 Uncertain 3_123665902_T->G 3 123665902 123665902 T G snp 2783.77 0/1 99 247 131 116 0.47 exonic rs17310144 CCDC14 AU nonsynonymous SNV NM_022757 exon7 c.A970C p.T324P 0.298522 0.1002 0.475088 0.4887 0.1096 0.28 T 0.0 P -0.945 T 0.899 T 0.367 P Pathogenic 3_123666192_C->T 3 123666192 123666192 C T snp 951.77 0/1 99 49 14 35 0.71 intronic rs17375977 CCDC14 AU NM_022757 exon6 c.32541+26C>T 0.315296 0.0982 0.499461 0.4968 0.1077 Uncertain 3_123671343_T->A 3 123671343 123671343 T A snp 755.77 0/1 99 56 27 29 0.52 intronic rs2682197 CCDC14 AU NM_022757 exon8 c.34354+3364T>A 0.211661 0.3621 Uncertain 3_123674627_T->C 3 123674627 123674627 T C snp 37.77 0/1 66 7 5 2 0.29 intronic rs2700409 CCDC14 AU NM_022757 exon9 c.41267-265T>C 0.209864 0.3512 Uncertain 3_123674862_G->C 3 123674862 123674862 G C snp 537.77 0/1 99 48 24 24 0.5 intronic CCDC14 AU NM_022757 exon9 c.41267-30G>C Uncertain 3_123688743_G->C 3 123688743 123688743 G C snp 774.77 0/1 99 68 39 29 0.43 intronic rs12637464 ROPN1 AU NM_017578 exon2 c.887-145G>C 0.414537 0.7619 Uncertain 3_123688760_C->G 3 123688760 123688760 C G snp 1427.77 0/1 99 99 46 53 0.54 intronic rs34337446 ROPN1 AU NM_017578 exon2 c.887-128C>G 0.317492 0.1121 Uncertain 3_123694595_C->G 3 123694595 123694595 C G snp 153.84 1/1 18 27 0 27 1.0 intronic rs138944419 ROPN1 AU NM_017578 exon3 c.6386+208C>G 0.904153 0.9901 0.1816 0.7222 Uncertain 3_123699145_C->T 3 123699145 123699145 C T snp 2822.77 0/1 99 250 132 118 0.47 intronic rs7621884 ROPN1 AU NM_017578 exon5 c.11211-67C>T 0.216853 0.3601 0.1174 0.4225 Uncertain 3_123699299_G->A 3 123699299 123699299 G A snp 1332.77 0/1 99 132 77 55 0.42 exonic rs7622201 ROPN1 AU synonymous SNV NM_017578 exon3 c.C30T p.I10I 0.215256 0.3601 0.104721 0.0905 0.3790 Uncertain 3_123851972_G->A 3 123851972 123851972 G A snp 68.77 0/1 97 9 6 3 0.33 downstream rs7627646 MIR5002 AU 0.498602 0.5238 Uncertain 3_123946963_G->A 3 123946963 123946963 G A snp 3901.77 1/1 99 138 0 138 1.0 intergenic rs2293640 MIR5002 AU 0.140575 0.4583 0.006738 0.0766 0.4711 Uncertain 3_123988039_T->C 3 123988039 123988039 T C snp 1365.77 0/1 99 107 50 57 0.53 intergenic rs2272486 MIR5002 AU 0.621805 0.5337 0.625365 0.6193 0.5320 1.000 P -1.105 T Uncertain 3_124044949_C->T 3 124044949 124044949 C T snp 6133.77 1/1 99 221 0 221 1.0 intergenic rs2289778 MIR5002 AU 0.753594 0.7837 0.793634 0.8567 0.7698 1.0 P -1.078 T Uncertain 3_124113929_A->T 3 124113929 124113929 A T snp 1757.77 1/1 99 57 0 57 1.0 intergenic rs482285 MIR6083 AU 0.734026 0.7698 0.775734 Uncertain 3_124128938_A->G 3 124128938 124128938 A G snp 1741.77 1/1 99 59 0 59 1.0 intergenic rs647010 MIR6083 AU 1 1 Uncertain 3_124132263_A->T 3 124132263 124132263 A T snp 406.77 0/1 99 46 28 18 0.39 intergenic rs2289846 MIR6083 AU 0.396366 0.4603 Uncertain 3_124132568_T->G 3 124132568 124132568 T G snp 424.77 0/1 99 18 6 12 0.67 intergenic rs6762346 MIR6083 AU 0.594249 0.7143 Uncertain 3_124165458_-->A 3 124165458 124165458 - A indel 70.73 0/1 99 13 8 5 0.38 intergenic rs201103539 MIR6083 AU 0.00638978 0.0268 Uncertain 3_124195987_T->C 3 124195987 124195987 T C snp 541.77 1/1 42 14 0 14 1.0 intergenic rs572145 MIR6083 AU 0.98762 0.999 Uncertain 3_124196094_A->T 3 124196094 124196094 A T snp 4648.77 1/1 99 157 0 157 1.0 intergenic rs2289843 MIR6083 AU 0.197284 0.498 0.084730 0.1632 0.5006 1.0 P -0.907 T Uncertain 3_124196239_T->- 3 124196239 124196239 T - indel 7787.73 1/1 99 199 0 199 1.0 intergenic rs3214750 MIR6083 AU 0.198682 0.498 0.084172 Uncertain 3_124210344_C->A 3 124210344 124210344 C A snp 2253.77 1/1 99 77 0 77 1.0 intergenic rs10755077 MIR6083 AU 0.579872 0.6825 Uncertain 3_124281604_G->A 3 124281604 124281604 G A snp 1501.77 1/1 99 60 0 60 1.0 intergenic rs2279784 MIR6083 AU 0.268171 0.6548 Uncertain 3_124281980_T->C 3 124281980 124281980 T C snp 1562.77 1/1 99 50 0 50 1.0 intergenic rs2256831 MIR6083 AU 0.657149 0.8641 0.554441 0.5129 0.8322 Uncertain 3_124303786_G->C 3 124303786 124303786 G C snp 3647.77 1/1 99 136 0 136 1.0 intronic rs2250757 KALRN AU NM_007064 exon1 c.85+33G>C 0.664736 0.8849 0.581674 0.5504 0.8662 Uncertain 3_124351229_C->G 3 124351229 124351229 C G snp 3200.06 1/1 99 118 1 117 0.99 intronic rs3816201 KALRN AU NM_007064 exon2 c.47598-37C>G 0.0782748 0.2063 0.035215 0.0635 0.2127 Uncertain 3_124351316_G->A 3 124351316 124351316 G A snp 4939.77 1/1 99 190 0 190 1.0 exonic rs1708303 KALRN AU synonymous SNV NM_007064 exon2 c.G135A p.V45V 0.70627 0.9216 0.632631 0.6172 0.9002 1.0 P Uncertain 3_124351424_T->C 3 124351424 124351424 T C snp 3674.77 1/1 99 122 0 122 1.0 exonic rs1660038 KALRN AU synonymous SNV NM_007064 exon2 c.T243C p.L81L 0.707668 0.9216 0.635245 0.6182 0.9007 0 D 1.000 P -1.034 T Likely benign 3_124352573_A->G 3 124352573 124352573 A G snp 1122.77 1/1 81 35 0 35 1.0 intronic rs652046 KALRN AU NM_007064 exon3 c.49027-122A>G 0.778754 0.9216 Uncertain 3_124355934_C->T 3 124355934 124355934 C T snp 182.77 0/1 99 20 9 11 0.55 intronic rs2276741 KALRN AU NM_007064 exon4 c.52386-120C>T 0.243011 0.4831 Uncertain 3_124369637_G->A 3 124369637 124369637 G A snp 1346.77 0/1 99 140 78 62 0.44 intronic rs71323878 KALRN AU NM_007064 exon5 c.65986-17G>A 0.190495 0.3542 0.2221 0.4905 Uncertain 3_124369640_-->A 3 124369640 124369640 - A indel 6357.73 1/1 99 142 0 142 1.0 intronic rs11372663 KALRN AU NM_007064 exon5 c.65986-14insA 0.778754 0.9226 0.714183 0.6641 0.9016 Uncertain 3_124369650_T->C 3 124369650 124369650 T C snp 1778.77 0/1 99 141 64 77 0.55 splicing rs2291988 KALRN AU NM_007064 exon5 c.65986-4T>C 0.261182 0.4345 0.221974 0.2591 0.4311 Pathogenic 3_124374405_A->C 3 124374405 124374405 A C snp 1676.77 0/1 99 165 86 79 0.48 intronic rs4677939 KALRN AU NM_007064 exon6 c.70779-42A>C 0.266573 0.4048 0.232124 0.2610 0.4090 Uncertain 3_124376510_A->T 3 124376510 124376510 A T snp 1378.77 0/1 99 123 68 55 0.45 intronic rs2289426 KALRN AU NM_007064 exon8 c.72912-70A>T 0.106829 0.379 Uncertain 3_124376653_G->A 3 124376653 124376653 G A snp 5707.77 1/1 99 213 0 213 1.0 splicing rs106520 KALRN AU NM_007064 exon8 c.72982+3G>A 0.362021 0.7867 0.232354 0.3186 0.7607 Pathogenic 3_124377165_G->A 3 124377165 124377165 G A snp 281.77 0/1 99 21 12 9 0.43 intronic rs2175740 KALRN AU NM_007064 exon9 c.73609-112G>A 0.198283 0.1925 Uncertain 3_124378386_C->G 3 124378386 124378386 C G snp 856.77 1/1 63 26 0 26 1.0 intronic rs333297 KALRN AU NM_007064 exon10 c.74636+82C>G 0.771965 0.9206 Uncertain 3_124379641_C->A 3 124379641 124379641 C A snp 313.77 0/1 99 22 12 10 0.45 intronic rs333291 KALRN AU NM_007064 exon11 c.76101-128C>A 0.598043 0.5804 Uncertain 3_124379748_G->C 3 124379748 124379748 G C snp 1737.77 0/1 99 160 89 71 0.44 intronic rs333290 KALRN AU NM_007064 exon11 c.76101-21G>C 0.61242 0.5804 0.645010 0.5624 0.6004 Uncertain 3_124379817_T->C 3 124379817 124379817 T C snp 2326.77 0/1 99 232 125 107 0.46 exonic rs333289 KALRN AU synonymous SNV NM_007064 exon11 c.T1170C p.I390I 0.601038 0.5873 0.631939 0.5592 0.6121 1.0 P -1.037 T Likely benign 3_124380793_C->T 3 124380793 124380793 C T snp 1086.77 0/1 99 84 40 44 0.52 intronic rs665927 KALRN AU NM_007064 exon12 c.77107+18C>T 0.283946 0.1905 0.297017 0.2212 0.1970 Uncertain 3_124390796_C->T 3 124390796 124390796 C T snp 524.77 0/1 99 37 15 22 0.59 intronic rs3772782 KALRN AU NM_007064 exon15 c.87077+51C>T 0.185703 0.1845 0.177594 0.1733 0.1897 Uncertain 3_124393610_A->G 3 124393610 124393610 A G snp 149.77 0/1 99 9 4 5 0.56 intronic rs333354 KALRN AU NM_007064 exon16 c.89793+149A>G 0.611422 0.5823 Uncertain 3_124396338_T->G 3 124396338 124396338 T G snp 1056.77 0/1 99 85 41 44 0.52 intronic rs333349 KALRN AU NM_007064 exon17 c.93368-698T>G 0.491014 0.501 Uncertain 3_124396650_A->T 3 124396650 124396650 A T snp 137.77 0/1 99 15 9 6 0.4 intronic rs333348 KALRN AU NM_007064 exon17 c.93368-386A>T 0.611022 0.5813 Uncertain 3_124398571_A->T 3 124398571 124398571 A T snp 1254.77 1/1 90 44 0 44 1.0 intronic rs821365 KALRN AU NM_007064 exon18 c.94696+207A>T 0.752596 0.876 Uncertain 3_124398589_A->C 3 124398589 124398589 A C snp 974.77 1/1 72 30 0 30 1.0 intronic rs821364 KALRN AU NM_007064 exon18 c.94696+225A>C 0.781949 0.9196 Uncertain 3_124412471_T->C 3 124412471 124412471 T C snp 587.77 0/1 99 41 20 21 0.51 intronic rs2289429 KALRN AU NM_007064 exon19 c.108982-179T>C 0.150559 0.3393 Uncertain 3_124412634_G->T 3 124412634 124412634 G T snp 2491.77 1/1 99 92 0 92 1.0 intronic rs333283 KALRN AU NM_007064 exon19 c.108982-16G>T 0.728035 0.9236 0.686376 0.6650 0.9007 Uncertain 3_124416698_A->G 3 124416698 124416698 A G snp 75.77 0/1 99 6 3 3 0.5 intronic rs333277 KALRN AU NM_007064 exon22 c.112903+127A>G 0.511781 0.7371 Uncertain 3_124418846_C->T 3 124418846 124418846 C T snp 1460.77 0/1 99 121 60 61 0.5 exonic rs2289427 KALRN AU synonymous SNV NM_007064 exon23 c.C2871T p.S957S 0.141174 0.1855 0.159849 0.1794 0.1886 1.0 P -1.015 T Likely benign 3_124451380_C->T 3 124451380 124451380 C T snp 2851.77 0/1 99 250 131 119 0.48 intronic rs141698537 UMPS AR NM_000373 exon1 c.156+1906C>T 0.00658946 0.0327 Uncertain 3_124485065_T->C 3 124485065 124485065 T C snp 412.77 0/1 99 36 19 17 0.47 intronic rs2291080 ITGB5 AU NM_002213 exon3 c.2603-7T>C 0.0928514 0.125 0.051053 0.0398 0.1029 Uncertain 3_124487849_A->G 3 124487849 124487849 A G snp 166.77 0/1 99 13 4 9 0.69 intronic rs2291082 ITGB5 AU NM_002213 exon4 c.5390-10A>G 0.36242 0.3165 0.291020 0.2695 0.3067 Uncertain 3_124515308_A->G 3 124515308 124515308 A G snp 3141.77 0/1 99 248 115 133 0.54 exonic rs1803825 ITGB5 AU synonymous SNV NM_002213 exon10 c.T1620C p.F540F 0.336661 0.3194 0.274181 0.2601 0.3124 1.0 P -0.904 T Likely benign 3_124515314_G->A 3 124515314 124515314 G A snp 2938.77 0/1 99 250 118 132 0.53 exonic rs2291085 ITGB5 AU synonymous SNV NM_002213 exon10 c.C1614T p.S538S 0.0964457 0.13 0.056282 0.0355 0.1127 1.000 P -1.018 T Likely benign 3_124515395_G->A 3 124515395 124515395 G A snp 2416.77 0/1 99 202 94 108 0.53 exonic rs2291086 ITGB5 AU synonymous SNV NM_002213 exon10 c.C1533T p.N511N 0.0880591 0.124 0.049823 0.0328 0.1007 1.000 P -1.060 T Likely benign 3_124515636_C->T 3 124515636 124515636 C T snp 1117.77 0/1 99 109 57 52 0.48 exonic rs2291089 ITGB5 AU nonsynonymous SNV NM_002213 exon10 c.G1292A p.R431Q 0.0443291 0.122 0.010151 0.0158 0.1013 0.13 T 1.000 P -1.087 T 1.0 D 0.89 D Pathogenic 3_124605736_T->C 3 124605736 124605736 T C snp 1243.77 1/1 87 50 0 50 1.0 intronic rs6438861 ITGB5 AU NM_002213 exon15 c.123308-41T>C 0.863818 0.9127 1 . Uncertain 3_124606753_T->A 3 124606753 124606753 T A snp 573.77 1/1 45 15 0 15 1.0 upstream rs4679113 ITGB5 AU 0.592053 0.7877 Uncertain 3_124646705_-->AAG 3 124646705 124646705 - AAG indel 9279.73 1/1 99 163 0 163 1.0 exonic rs10630030 MUC13 AU nonframeshift insertion NM_033049 exon2 c.184_185insCTT p.F62delinsSF 0.986022 1 0.986983 0.9963 1 Uncertain 3_124653710_A->G 3 124653710 124653710 A G snp 1689.77 1/1 99 54 0 54 1.0 upstream rs10934701 MUC13 AU 0.958067 1 Uncertain 3_124728394_T->C 3 124728394 124728394 T C snp 141.03 1/1 12 4 0 4 1.0 intronic rs6438867 HEG1 AU NM_020733 exon10 c.39053-154T>C 0.713858 0.7143 Uncertain 3_124728472_C->G 3 124728472 124728472 C G snp 1870.77 1/1 99 62 0 62 1.0 intronic rs6438868 HEG1 AU NM_020733 exon10 c.39053-76C>G 0.605831 0.5982 Uncertain 3_124728626_A->G 3 124728626 124728626 A G snp 4794.77 1/1 99 183 1 182 0.99 exonic rs6438869 HEG1 AU nonsynonymous SNV NM_020733 exon8 c.T3116C p.M1039T 0.628195 0.5982 0.625330 0.6505 0.5587 1 T 0.0 P -0.881 T 0.0 T 0.0 T Pathogenic 3_124729193_T->G 3 124729193 124729193 T G snp 344.77 0/1 99 31 18 13 0.42 intronic rs6784454 HEG1 AU NM_020733 exon11 c.39787-89T>G 0.519569 0.3661 Uncertain 3_124731485_C->G 3 124731485 124731485 C G snp 4387.77 1/1 99 147 0 147 1.0 exonic rs10804567 HEG1 AU nonsynonymous SNV NM_020733 exon6 c.G2938C p.V980L 0.746206 0.9286 0.624667 0.6847 0.9192 0.97 T 0.0 P -0.957 T 0.0 T 0.0 T Pathogenic 3_124731689_T->A 3 124731689 124731689 T A snp 1724.77 0/1 99 159 78 81 0.51 exonic rs78680419 HEG1 AU nonsynonymous SNV NM_020733 exon6 c.A2734T p.T912S 0.284545 0.4633 0.159157 0.1829 0.4949 0.09 T 0.0 P -1.018 T 0.319 T 0.134 T Pathogenic 3_124732618_A->G 3 124732618 124732618 A G snp 2595.77 0/1 99 204 95 109 0.53 exonic rs6790837 HEG1 AU nonsynonymous SNV NM_020733 exon6 c.T1805C p.F602S 0.441094 0.4673 0.424043 0.4975 0.4296 0.94 T 0.000 P -0.968 T 0.0 T 0.0 T Pathogenic 3_124732842_C->A 3 124732842 124732842 C A snp 2373.77 1/1 99 76 0 76 1.0 intronic rs6438871 HEG1 AU NM_020733 exon12 c.43339+8C>A 0.73742 0.9286 0.608047 0.6869 0.9175 Uncertain 3_124733494_G->T 3 124733494 124733494 G T snp 294.78 1/1 24 8 0 8 1.0 intronic rs6769860 HEG1 AU NM_020733 exon12 c.43339+660G>T 0.991014 0.9563 Uncertain 3_124733649_T->G 3 124733649 124733649 T G snp 3810.77 1/1 99 148 0 148 1.0 intronic rs6438873 HEG1 AU NM_020733 exon12 c.43339+815T>G 0.792931 0.9286 0.7336 0.9059 Uncertain 3_124738107_C->T 3 124738107 124738107 C T snp 2334.77 0/1 99 159 66 93 0.58 exonic rs59232004 HEG1 AU synonymous SNV NM_020733 exon5 c.G1587A p.S529S 0.492212 0.4762 0.463426 0.5155 0.4366 Uncertain 3_124739892_G->A 3 124739892 124739892 G A snp 3148.77 0/1 99 235 99 136 0.58 exonic rs6438874 HEG1 AU synonymous SNV NM_020733 exon4 c.C996T p.A332A 0.509585 0.4772 0.482022 0.5532 0.4792 Uncertain 3_124746049_A->G 3 124746049 124746049 A G snp 329.77 0/1 99 24 10 14 0.58 exonic rs2981546 HEG1 AU nonsynonymous SNV NM_020733 exon3 c.T913C p.S305P 0.488818 0.4782 0.458408 0.5389 0.4696 0.000 P -0.975 T 0.011 T 0.007 T Pathogenic 3_124746182_C->A 3 124746182 124746182 C A snp 1443.77 0/1 99 135 72 63 0.47 exonic rs2333041 HEG1 AU synonymous SNV NM_020733 exon3 c.G780T p.P260P 0.513578 0.4782 0.486908 0.5178 0.4332 Uncertain 3_124746347_T->C 3 124746347 124746347 T C snp 3998.77 1/1 99 151 0 151 1.0 exonic rs4404487 HEG1 AU synonymous SNV NM_020733 exon3 c.A615G p.S205S 0.76897 0.8889 0.647004 0.6826 0.8822 Uncertain 3_124748226_G->A 3 124748226 124748226 G A snp 1228.77 0/1 99 115 58 57 0.5 exonic rs2860440 HEG1 AU synonymous SNV NM_020733 exon2 c.C423T p.G141G 0.488818 0.4792 0.460834 0.5120 0.4360 Uncertain 3_124774655_GCC->- 3 124774655 124774657 GCC - indel 411.73 0/1 99 20 11 9 0.45 exonic rs769007614 HEG1 AU nonframeshift deletion NM_020733 exon1 c.78_80del p.26_27del 0 . Uncertain 3_124837684_T->C 3 124837684 124837684 T C snp 1592.77 1/1 99 57 0 57 1.0 exonic rs621383 SLC12A8 AU nonsynonymous SNV NM_001195483 exon7 c.A841G p.I281V 0.999401 1 0.998799 0.9997 0.9999 1 T 0.004 P -0.950 T 0.001 T 0.004 T Pathogenic 3_124839470_G->A 3 124839470 124839470 G A snp 6578.77 1/1 99 250 0 250 1.0 exonic rs863642 SLC12A8 AU nonsynonymous SNV NM_001195483 exon6 c.C797T p.P266L 0.984225 1 0.981685 0.9947 1 0.75 T 0.129 P -0.921 T 0.001 T 0.001 T Pathogenic 3_124854425_T->C 3 124854425 124854425 T C snp 730.77 1/1 54 27 0 27 1.0 intronic rs702048 SLC12A8 AU NM_024628 exon9 c.51779-87T>C 0.871805 0.9692 Uncertain 3_124896861_C->G 3 124896861 124896861 C G snp 1801.77 1/1 99 55 0 55 1.0 intronic rs545103 SLC12A8 AU NM_024628 exon10 c.94085+43C>G 0.963259 1 0.963622 0.9901 1 Uncertain 3_124909178_T->G 3 124909178 124909178 T G snp 1695.77 0/1 99 158 86 72 0.46 intronic rs4679159 SLC12A8 AU NM_024628 exon12 c.106485-40T>G 0.0974441 0.1181 0.099086 0.0921 0.1161 Uncertain 3_124912207_C->T 3 124912207 124912207 C T snp 216.77 0/1 99 19 10 9 0.47 intronic rs13322132 SLC12A8 AU NM_024628 exon12 c.106632+2842C>T 0.346446 0.373 Uncertain 3_124930044_A->G 3 124930044 124930044 A G snp 369.77 0/1 99 16 4 12 0.75 intronic rs673881 SLC12A8 AU NM_024628 exon13 c.127409-98A>G 0.735423 0.752 Uncertain 3_124930408_A->G 3 124930408 124930408 A G snp 185.77 0/1 99 17 10 7 0.41 intronic rs686088 SLC12A8 AU NM_001195483 exon13 c.127510+165A>G 0.738219 0.7609 Uncertain 3_124951172_T->- 3 124951172 124951172 T - indel 423.73 0/1 99 61 27 34 0.56 UTR3 rs35950048 ZNF148 AU 0.531749 0.506 0.4854 0.4581 Uncertain 3_124951821_C->T 3 124951821 124951821 C T snp 3152.77 0/1 99 248 125 123 0.5 exonic rs1053738 ZNF148 AU synonymous SNV NM_021964 exon9 c.G1749A p.P583P 0.70607 0.5298 0.792141 0.7207 0.5091 Uncertain 3_125250610_A->G 3 125250610 125250610 A G snp 395.77 0/1 99 28 14 14 0.5 intronic rs62270201 OSBPL11 AU NM_022776 exon2 c.1346-94A>G 0.226438 0.1815 Uncertain 3_125301711_C->G 3 125301711 125301711 C G snp 692.77 0/1 99 90 56 34 0.38 intronic rs2979382 OSBPL11 AU NM_022776 exon12 c.52395-42C>G 0.56869 0.3611 0.584499 0.5124 0.3864 Uncertain 3_125694422_T->C 3 125694422 125694422 T C snp 1239.77 0/1 99 104 50 54 0.52 exonic rs187992194 ROPN1B AU nonsynonymous SNV NM_001012337 exon3 c.T133C p.S45P 0.00299521 0.0139 0.0010 0.0129 0.01 T 1 D -0.982 T 0.729 T 0.309 P Pathogenic 3_125726048_G->C 3 125726048 125726048 G C snp 2226.77 1/1 99 79 0 79 1.0 exonic rs2279819 SLC41A3 AU synonymous SNV NM_001008486 exon10 c.C1167G p.L389L 0.665735 0.503 0.717669 0.6096 0.4914 Uncertain 3_125734272_G->A 3 125734272 125734272 G A snp 1054.77 0/1 99 78 34 44 0.56 intronic rs2279820 SLC41A3 AU NM_017836 exon4 c.8478-64G>A 0.27516 0.1825 Uncertain 3_125734465_G->A 3 125734465 125734465 G A snp 1758.77 0/1 99 199 118 81 0.41 intronic rs9862310 SLC41A3 AU NM_017836 exon4 c.8558+49G>A 0.328874 0.1825 0.345148 0.2875 0.1765 Uncertain 3_125741592_C->T 3 125741592 125741592 C T snp 635.77 0/1 99 55 29 26 0.47 intronic rs3817079 SLC41A3 AU NM_017836 exon6 c.15770-36C>T 0.330471 0.1825 0.348916 0.2896 0.1750 Uncertain 3_125741901_A->G 3 125741901 125741901 A G snp 230.77 0/1 99 16 8 8 0.5 intronic rs2270984 SLC41A3 AU NM_017836 exon6 c.15917+126A>G 0.27496 0.1825 Uncertain 3_125741925_T->G 3 125741925 125741925 T G snp 158.79 0/1 22 6 1 5 0.83 intronic rs2270983 SLC41A3 AU NM_017836 exon6 c.15917+150T>G 0.330072 0.1825 Uncertain 3_125745433_C->T 3 125745433 125745433 C T snp 264.77 0/1 99 14 6 8 0.57 intronic rs7646705 SLC41A3 AU NM_017836 exon7 c.19464+111C>T 0.207468 0.1825 Uncertain 3_125775228_T->C 3 125775228 125775228 T C snp 1693.77 1/1 99 64 0 64 1.0 exonic rs7613944 SLC41A3 AU synonymous SNV NM_001008487 exon1 c.A168G p.T56T 0.994808 1 0.993234 0.9980 0.9999 Uncertain 3_125775321_G->C 3 125775321 125775321 G C snp 121.77 0/1 99 57 48 9 0.16 exonic rs58595496 SLC41A3 AU synonymous SNV NM_001008487 exon1 c.C75G p.T25T 0.0569089 0.1548 0.021529 0.0364 0.1553 Uncertain 3_125786662_-->A 3 125786662 125786662 - A indel 266.14 1/1 10 17 1 16 0.94 intronic rs36125006 SLC41A3 AU NM_017836 exon10 c.60931-127insA 0.242612 0.2907 Uncertain 3_125786852_C->T 3 125786852 125786852 C T snp 1862.77 0/1 99 149 71 78 0.52 exonic rs11543283 SLC41A3 AU nonsynonymous SNV NM_001008485 exon2 c.G211A p.V71M 0.0678914 0.1548 0.034830 0.0401 0.1559 0.1 T 0.0 P -1.010 T 0.076 T 0.032 T Pathogenic 3_125786879_T->C 3 125786879 125786879 T C snp 4267.77 1/1 99 152 0 152 1.0 exonic rs4234270 SLC41A3 AU nonsynonymous SNV NM_001008485 exon2 c.A184G p.T62A 0.993211 1 0.990697 0.9974 1 0.69 T 0.000 P -1.030 T 0.0 T 0.001 T Pathogenic 3_125824382_C->A 3 125824382 125824382 C A snp 517.77 0/1 99 37 18 19 0.51 ncRNA_intronic rs10934744 ALDH1L1-AS1 AU 0.301917 0.1865 0.4311 0.2874 Uncertain 3_125824899_G->A 3 125824899 125824899 G A snp 305.77 0/1 99 17 6 11 0.65 ncRNA_intronic rs4646754 ALDH1L1-AS1 AU 0.316893 0.1845 Uncertain 3_125826213_C->T 3 125826213 125826213 C T snp 154.84 0/1 18 6 1 5 0.83 ncRNA_intronic rs2276730 ALDH1L1-AS1 AU 0.316294 0.1825 Uncertain 3_125834176_C->T 3 125834176 125834176 C T snp 372.77 0/1 99 32 17 15 0.47 intronic rs11716254 ALDH1L1 AU NM_001270364 exon6 c.10866+677C>T 0.166933 0.1756 0.147613 Uncertain 3_125836673_G->A 3 125836673 125836673 G A snp 56.74 1/1 6 2 0 2 1.0 intronic rs6792028 ALDH1L1 AU NM_001270364 exon7 c.14214-174G>A 0.482428 0.4167 Uncertain 3_125836796_C->T 3 125836796 125836796 C T snp 1051.77 0/1 99 98 54 44 0.45 intronic rs4646742 ALDH1L1 AU NM_001270364 exon7 c.14214-51C>T 0.178315 0.1756 0.160319 Uncertain 3_125836803_G->A 3 125836803 125836803 G A snp 1163.77 0/1 99 108 57 51 0.47 intronic rs4646741 ALDH1L1 AU NM_001270364 exon7 c.14214-44G>A 0.113818 0.1756 0.104984 0.1146 0.1995 Uncertain 3_125836833_C->G 3 125836833 125836833 C G snp 1461.77 0/1 99 143 75 68 0.48 intronic rs4646740 ALDH1L1 AU NM_001270364 exon7 c.14214-14C>G 0.126398 0.1756 0.121098 0.1221 0.1986 Uncertain 3_125843400_-->G 3 125843400 125843400 - G indel 853.73 1/1 63 21 0 21 1.0 intronic rs3217578 ALDH1L1 AU NM_001270364 exon8 c.20661+106insG 0.563898 0.5367 Uncertain 3_125844718_G->A 3 125844718 125844718 G A snp 495.77 0/1 99 33 15 18 0.55 intronic rs2278756 ALDH1L1 AU NM_001270364 exon9 c.21931+154G>A 0.315895 0.3611 Uncertain 3_125848899_G->A 3 125848899 125848899 G A snp 128.03 1/1 12 4 0 4 1.0 intronic rs2365003 ALDH1L1 AU NM_001270364 exon10 c.26432-166G>A 0.596845 0.5972 Uncertain 3_125848911_A->G 3 125848911 125848911 A G snp 212.84 1/1 18 6 0 6 1.0 intronic rs1868125 ALDH1L1 AU NM_001270364 exon10 c.26432-154A>G 0.596645 0.5962 Uncertain 3_125848945_T->C 3 125848945 125848945 T C snp 558.77 1/1 42 15 0 15 1.0 intronic rs2365002 ALDH1L1 AU NM_001270364 exon10 c.26432-120T>C 0.596645 0.5962 Uncertain 3_125849031_C->T 3 125849031 125849031 C T snp 1822.77 1/1 99 56 0 56 1.0 intronic rs873696 ALDH1L1 AU NM_001270364 exon10 c.26432-34C>T 0.596645 0.5962 0.649393 0.6175 0.5980 Uncertain 3_125849238_G->A 3 125849238 125849238 G A snp 1381.77 1/1 99 44 0 44 1.0 intronic rs2002287 ALDH1L1 AU NM_001270364 exon10 c.26503+102G>A 0.596645 0.5962 Uncertain 3_125850101_C->T 3 125850101 125850101 C T snp 705.77 1/1 54 19 0 19 1.0 intronic rs4646733 ALDH1L1 AU NM_001270364 exon11 c.27593-125C>T 0.596645 0.5962 Uncertain 3_125850102_A->G 3 125850102 125850102 A G snp 719.77 1/1 54 19 0 19 1.0 intronic rs4646732 ALDH1L1 AU NM_001270364 exon11 c.27593-124A>G 0.596645 0.5962 Uncertain 3_125850169_T->C 3 125850169 125850169 T C snp 2377.77 1/1 99 98 1 97 0.99 intronic rs3821451 ALDH1L1 AU NM_001270364 exon11 c.27593-57T>C 0.596645 0.5962 Uncertain 3_125850193_A->G 3 125850193 125850193 A G snp 3029.77 1/1 99 116 0 116 1.0 intronic rs3816366 ALDH1L1 AU NM_001270364 exon11 c.27593-33A>G 0.596246 0.5962 0.649546 0.6053 0.5855 Uncertain 3_125850381_A->G 3 125850381 125850381 A G snp 1724.77 1/1 99 63 0 63 1.0 splicing rs2305228 ALDH1L1 AU NM_001270364 exon11 c.27744+4A>G 0.666534 0.5962 0.723666 0.6281 0.5810 Pathogenic 3_125850434_C->T 3 125850434 125850434 C T snp 319.77 0/1 99 27 15 12 0.44 intronic rs2305227 ALDH1L1 AU NM_001270364 exon11 c.27744+57C>T 0.377596 0.3611 Uncertain 3_125854312_C->- 3 125854312 125854312 C - indel 1726.73 0/1 99 122 60 62 0.51 intronic rs3216713 ALDH1L1 AU NM_001270364 exon12 c.31744-65delC 0.351238 0.379 0.4685 0.4748 Uncertain 3_125854409_T->C 3 125854409 125854409 T C snp 2615.77 0/1 99 250 143 107 0.43 exonic rs2276724 ALDH1L1 AU nonsynonymous SNV NM_001270365 exon10 c.A1138G p.S380G 0.154353 0.2381 0.152084 0.1428 0.2207 0.01 T 1.0 P -1.044 T 0.494 P 0.392 P Pathogenic 3_125855599_G->T 3 125855599 125855599 G T snp 1762.77 0/1 99 141 64 77 0.55 intronic rs2305229 ALDH1L1 AU NM_001270364 exon13 c.32973-7G>T 0.175319 0.2321 0.168080 0.1927 0.3229 Uncertain 3_125856695_C->A 3 125856695 125856695 C A snp 765.77 0/1 99 66 33 33 0.5 exonic rs2305230 ALDH1L1 AU synonymous SNV NM_001270365 exon8 c.G882T p.L294L 0.244808 0.2321 0.240581 0.1687 0.2176 Uncertain 3_125856916_A->G 3 125856916 125856916 A G snp 141.03 1/1 12 4 0 4 1.0 intronic rs6799991 ALDH1L1 AU NM_001270364 exon14 c.34170+113A>G 0.671326 0.6111 Uncertain 3_125865766_C->A 3 125865766 125865766 C A snp 306.77 0/1 99 44 30 14 0.32 exonic rs2886059 ALDH1L1 AU nonsynonymous SNV NM_001270365 exon7 c.G685T p.V229F 0.23722 0.2302 0.230586 0.1731 0.2241 0 D 0.001 P -0.975 T 0.91 T 0.756 D Pathogenic 3_125872277_G->A 3 125872277 125872277 G A snp 1550.77 0/1 99 179 111 68 0.38 intronic rs3821467 ALDH1L1 AU NM_001270364 exon17 c.49653-9G>A 0.00259585 0.0129 0.0012 0.0157 0 D 1 N -0.942 T 0.999 D 0.978 D Uncertain 3_125874388_C->T 3 125874388 125874388 C T snp 579.77 0/1 99 36 15 21 0.58 intronic rs2276731 ALDH1L1 AU NM_001270364 exon19 c.51713+42C>T 0.819089 0.7391 0.824592 0.8304 0.7421 Uncertain 3_126138778_T->C 3 126138778 126138778 T C snp 830.77 0/1 99 76 39 37 0.49 intronic rs2271630 CCDC37 AU NM_182628 exon10 c.23979-44T>C 0.813898 0.5883 0.915193 0.8746 0.5970 Uncertain 3_126142434_GGA->- 3 126142434 126142436 GGA - indel 4083.73 0/1 99 168 89 79 0.47 exonic rs140223152 CCDC37 AU nonframeshift deletion NM_182628 exon13 c.1233_1235del p.411_412del 0.0543131 0.003 0.0903 0.0019 Uncertain 3_126160885_ATTA->- 3 126160885 126160888 ATTA - indel 1145.73 1/1 54 27 0 27 1.0 intronic rs375720300 ZXDC AU NM_025112 exon3 c.3572+96_3572+99delATTA 0.413738 0.4851 Uncertain 3_126169091_T->C 3 126169091 126169091 T C snp 4654.77 1/1 99 166 0 166 1.0 intronic rs777493 ZXDC AU NM_025112 exon3 c.3572+8302T>C 0.891773 0.9901 0.9493 1 Uncertain 3_126169230_C->T 3 126169230 126169230 C T snp 5940.77 1/1 99 215 0 215 1.0 intronic rs777494 ZXDC AU NM_025112 exon3 c.3572+8441C>T 0.891174 0.9901 0.9542 1 Uncertain 3_126169472_T->C 3 126169472 126169472 T C snp 724.77 1/1 54 25 0 25 1.0 intronic rs777495 ZXDC AU NM_025112 exon3 c.3572+8683T>C 0.988219 1 0.9990 1 Uncertain 3_126178390_A->C 3 126178390 126178390 A C snp 298.78 1/1 24 8 0 8 1.0 UTR3 rs1043803 ZXDC AU 0.455072 0.5109 Uncertain 3_126184941_C->T 3 126184941 126184941 C T snp 411.77 1/1 33 13 0 13 1.0 intronic rs1799389 ZXDC AU NM_025112 exon6 c.27780-56C>T 0.454073 0.5099 Uncertain 3_126185238_C->T 3 126185238 126185238 C T snp 2776.77 1/1 99 105 0 105 1.0 intronic rs1687463 ZXDC AU NM_025112 exon6 c.27951+70C>T 0.545128 0.5704 Uncertain 3_126185265_-->T 3 126185265 126185265 - T indel 709.73 0/1 99 66 38 28 0.42 intronic rs3830336 ZXDC AU NM_025112 exon6 c.27951+97insT 0.373802 0.5069 Uncertain 3_126189919_A->G 3 126189919 126189919 A G snp 1916.77 1/1 99 69 1 68 0.99 intronic rs777499 ZXDC AU NM_025112 exon7 c.32651+51A>G 0.590455 0.5734 0.621949 0.6565 0.5767 Uncertain 3_126194076_T->C 3 126194076 126194076 T C snp 5824.77 1/1 99 215 0 215 1.0 exonic rs812367 ZXDC AU synonymous SNV NM_001040653 exon1 c.A633G p.P211P 0.547324 0.5724 0.579425 0.6771 0.6011 Uncertain 3_126194357_G->C 3 126194357 126194357 G C snp 1983.77 1/1 99 68 0 68 1.0 exonic rs7624748 ZXDC AU nonsynonymous SNV NM_001040653 exon1 c.C352G p.P118A 0.988019 1 0.9951 1 0.88 T 0.0 P -1.002 T 0.0 T 0.0 T Pathogenic 3_126202257_G->A 3 126202257 126202257 G A snp 2344.77 0/1 99 227 121 106 0.47 exonic rs1687477 UROC1 AR synonymous SNV NM_144639 exon19 c.C1845T p.A615A 0.409145 0.4901 0.426649 0.4724 0.4732 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000118813.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 3_126206800_C->T 3 126206800 126206800 C T snp 88.28 1/1 9 3 0 3 1.0 intronic rs812366 UROC1 AR NM_001165974 exon3 c.5853-240C>T 0.585264 0.5843 Uncertain 3_126207222_A->G 3 126207222 126207222 A G snp 642.77 1/1 48 20 0 20 1.0 intronic rs777483 UROC1 AR NM_001165974 exon3 c.5935+100A>G 0.641973 0.5873 Uncertain 3_126208249_A->C 3 126208249 126208249 A C snp 1825.77 1/1 99 57 0 57 1.0 intronic rs777479 UROC1 AR NM_001165974 exon4 c.7031+31A>C 0.491613 0.5873 0.491158 0.5576 0.5705 Uncertain 3_126211479_-->CTCT 3 126211479 126211479 - CTCT indel 2557.73 1/1 99 39 0 39 1.0 intronic rs2307882 UROC1 AR NM_001165974 exon5 c.10172+120insCTCT 0.711262 0.6468 Uncertain 3_126214747_T->G 3 126214747 126214747 T G snp 459.77 1/1 36 12 0 12 1.0 intronic rs6809379 UROC1 AR NM_001165974 exon6 c.13693-133T>G 0.983626 1 Uncertain 3_126215130_G->A 3 126215130 126215130 G A snp 225.77 0/1 99 13 6 7 0.54 intronic rs6797423 UROC1 AR NM_001165974 exon6 c.13764+179G>A 0.565495 0.7629 Uncertain 3_126216829_T->A 3 126216829 126216829 T A snp 732.77 0/1 99 92 57 35 0.38 intronic rs13098666 UROC1 AR NM_001165974 exon7 c.15706-64T>A 0.327077 0.5208 Uncertain 3_126218769_T->C 3 126218769 126218769 T C snp 158.78 0/1 24 7 2 5 0.71 intronic rs35907154 UROC1 AR NM_001165974 exon9 c.17712-130T>C 0.533946 0.5228 Uncertain 3_126218788_T->C 3 126218788 126218788 T C snp 323.77 0/1 99 14 4 10 0.71 intronic rs6774768 UROC1 AR NM_001165974 exon9 c.17712-111T>C 0.53115 0.5228 Uncertain 3_126219030_T->C 3 126219030 126219030 T C snp 879.77 0/1 99 83 46 37 0.45 intronic rs13072404 UROC1 AR NM_001165974 exon9 c.17810+33T>C 0.533746 0.5228 0.531995 0.5379 0.5834 Uncertain 3_126219086_A->G 3 126219086 126219086 A G snp 296.77 0/1 99 26 14 12 0.46 intronic rs13092625 UROC1 AR NM_001165974 exon9 c.17810+89A>G 0.535144 0.5228 Uncertain 3_126219117_C->T 3 126219117 126219117 C T snp 188.77 0/1 99 13 6 7 0.54 intronic rs13092793 UROC1 AR NM_001165974 exon9 c.17810+120C>T 0.317292 0.5179 Uncertain 3_126219973_T->C 3 126219973 126219973 T C snp 2602.77 1/1 99 88 0 88 1.0 intronic rs1177565 UROC1 AR NM_001165974 exon11 c.18873-87T>C 0.876797 0.9246 Uncertain 3_126220539_A->G 3 126220539 126220539 A G snp 375.77 0/1 99 24 12 12 0.5 intronic rs9844797 UROC1 AR NM_001165974 exon12 c.19456-104A>G 0.551917 0.5228 Uncertain 3_126220845_G->A 3 126220845 126220845 G A snp 464.77 0/1 99 28 10 18 0.64 intronic rs7643584 UROC1 AR NM_001165974 exon12 c.19604+54G>A 0.551318 0.5228 Uncertain 3_126223002_A->G 3 126223002 126223002 A G snp 479.77 0/1 99 43 23 20 0.47 intronic rs72626368 UROC1 AR NM_001165974 exon13 c.21739+76A>G 0.147564 0.2421 Uncertain 3_126226518_C->T 3 126226518 126226518 C T snp 3391.77 1/1 99 125 0 125 1.0 intronic rs9784244 UROC1 AR NM_001165974 exon16 c.25397-66C>T 0.886382 0.9454 0.886334 Uncertain 3_126227185_G->A 3 126227185 126227185 G A snp 1921.77 1/1 99 70 0 70 1.0 intronic rs16837531 UROC1 AR NM_001165974 exon18 c.26071-73G>A 0.558307 0.6845 Uncertain 3_126228267_T->C 3 126228267 126228267 T C snp 325.77 0/1 99 34 19 15 0.44 intronic rs534291108 UROC1 AR NM_001165974 exon19 c.27240-160T>C 0.000998403 0.005 Uncertain 3_126228410_G->A 3 126228410 126228410 G A snp 1090.77 0/1 99 94 46 48 0.51 intronic rs729456 UROC1 AR NM_001165974 exon19 c.27240-17G>A 0.430312 0.5407 0.431352 0.5335 0.5509 Uncertain 3_126229473_C->T 3 126229473 126229473 C T snp 1991.77 0/1 99 209 118 91 0.44 intronic rs78041432 UROC1 AR NM_001165974 exon20 c.28319-33C>T 0.125799 0.1438 0.062279 0.0803 0.1010 Uncertain 3_126236348_T->C 3 126236348 126236348 T C snp 1581.77 1/1 99 59 0 59 1.0 intronic rs1687480 UROC1 AR NM_001165974 exon21 c.35249-88T>C 0.999002 1 Uncertain 3_126243419_A->C 3 126243419 126243419 A C snp 88.77 0/1 99 22 17 5 0.23 intronic rs7613347 CHST13 AU NM_152889 exon1 c.97+147A>C 0.546126 0.4583 Uncertain 3_126268953_T->G 3 126268953 126268953 T G snp 1621.77 1/1 99 62 0 62 1.0 intronic rs869464 C3orf22 AU NM_152533 exon1 c.211+32T>G 0.465256 0.5833 0.484392 0.5562 0.6469 Uncertain 3_126270757_G->T 3 126270757 126270757 G T snp 1524.77 1/1 99 44 0 44 1.0 intronic rs13071443 C3orf22 AU NM_152533 exon2 c.2129-82G>T 0.999201 1 Uncertain 3_126328101_A->G 3 126328101 126328101 A G snp 3340.77 1/1 99 130 0 130 1.0 intronic rs9856833 TXNRD3 AU NM_052883 exon2 c.729+625A>G 0.554313 0.5972 Uncertain 3_126329910_A->G 3 126329910 126329910 A G snp 3799.77 1/1 99 149 0 149 1.0 exonic rs777241 TXNRD3 AU unknown 0.890775 0.8452 0.8844 0.8889 Uncertain 3_126340553_G->A 3 126340553 126340553 G A snp 3144.77 1/1 99 108 0 108 1.0 intronic rs3732534 TXNRD3 AU NM_052883 exon5 c.13837-31G>A 0.551118 0.5972 0.6499 0.6076 Uncertain 3_126365127_-->T 3 126365127 126365127 - T indel 1485.73 1/1 99 35 0 35 1.0 intronic rs11453652 TXNRD3 AU NM_052883 exon14 c.38316+64insT 0.810703 0.8452 Uncertain 3_126373490_C->A 3 126373490 126373490 C A snp 54.74 1/1 6 2 0 2 1.0 intronic rs777246 TXNRD3 AU NM_052883 exon16 c.46843-100C>A 0.745607 0.6349 Uncertain 3_126373994_A->G 3 126373994 126373994 A G snp 2542.77 1/1 99 96 0 96 1.0 upstream rs3108755 TXNRD3 AU 0.744609 0.63 0.8 0.75 0.76 T 0.000 P -0.988 T Uncertain 3_126633419_C->G 3 126633419 126633419 C G snp 4283.77 1/1 99 138 0 138 1.0 intronic rs2303994 CHCHD6 AU NM_032343 exon6 c.210367-103C>G 0.666534 0.748 Uncertain 3_126644974_G->C 3 126644974 126644974 G C snp 838.77 1/1 63 27 0 27 1.0 intronic rs732462 CHCHD6 AU NM_032343 exon6 c.210438+11381G>C 0.631589 0.7976 Uncertain 3_126724881_G->C 3 126724881 126724881 G C snp 2251.77 1/1 99 81 0 81 1.0 intronic rs12489348 PLXNA1 AU NM_032242 exon7 c.17485-40G>C 0.513778 0.5774 0.557358 0.6420 0.5801 Uncertain 3_126737268_C->A 3 126737268 126737268 C A snp 2190.77 0/1 99 171 88 83 0.49 exonic rs4679323 PLXNA1 AU synonymous SNV NM_032242 exon19 c.C3792A p.L1264L 0.541534 0.6042 0.600723 0.6394 0.5264 Uncertain 3_126739012_G->T 3 126739012 126739012 G T snp 1245.77 0/1 99 115 64 51 0.44 intronic rs891762 PLXNA1 AU NM_032242 exon20 c.31608-32G>T 0.446286 0.4226 0.542826 0.5941 0.4383 Uncertain 3_126739291_T->C 3 126739291 126739291 T C snp 1416.77 1/1 99 47 0 47 1.0 intronic rs6439030 PLXNA1 AU NM_032242 exon20 c.31751+104T>C 0.982029 1 Uncertain 3_126748151_T->C 3 126748151 126748151 T C snp 319.78 1/1 27 9 0 9 1.0 intronic rs6789728 PLXNA1 AU NM_032242 exon26 c.40846-131T>C 0.989217 1 Uncertain 3_126751689_G->A 3 126751689 126751689 G A snp 6292.77 1/1 99 232 0 232 1.0 intronic rs6439031 PLXNA1 AU NM_032242 exon30 c.44243+10G>A 0.989417 1 0.989926 0.9973 1 Uncertain 3_126880488_T->C 3 126880488 126880488 T C snp 2348.77 1/1 99 71 0 71 1.0 intergenic rs7625800 PLXNA1 AU 0.980232 1 Uncertain 3_127105976_A->- 3 127105976 127105976 A - indel 37.73 0/1 75 25 15 10 0.4 ncRNA_intronic rs35530528 LOC101927123 AU 0.385383 0.4792 Uncertain 3_127292333_G->A 3 127292333 127292333 G A snp 524.77 0/1 99 49 29 20 0.41 UTR3 rs62264113 TPRA1 AU 0.152556 0.2728 0.082564 0.1536 0.2307 Uncertain 3_127294501_A->G 3 127294501 127294501 A G snp 37.77 0/1 66 6 4 2 0.33 intronic rs41266479 TPRA1 AU NM_001136053 exon4 c.2228-90A>G 0.10603 0.1766 Uncertain 3_127323830_C->T 3 127323830 127323830 C T snp 2010.77 0/1 99 157 66 91 0.58 exonic rs893293 MCM2 AD synonymous SNV NM_004526 exon4 c.C504T p.I168I 0.596046 0.626 0.676995 0.6846 0.6687 1.0 P -1.018 T Likely benign 3_127336934_A->G 3 127336934 127336934 A G snp 3223.52 0/1 99 241 116 125 0.52 intronic rs782427 MCM2 AD NM_004526 exon12 c.19615+10A>G 0.789936 0.7242 0.822620 0.7552 0.7713 Uncertain 3_127388150_A->G 3 127388150 127388150 A G snp 562.77 0/1 99 57 36 21 0.37 intronic rs2304551 PODXL2 AU NM_015720 exon6 c.39983+105A>G 0.0688898 0.0893 Uncertain 3_127391018_A->G 3 127391018 127391018 A G snp 339.77 0/1 99 20 9 11 0.55 intronic rs813633 PODXL2 AU NM_015720 exon8 c.43048-92A>G 0.792732 0.7331 Uncertain 3_127396220_T->C 3 127396220 127396220 T C snp 844.77 0/1 99 57 27 30 0.53 intronic rs1658037 ABTB1 AU NM_032548 exon9 c.1087-87T>C 0.63119 0.628 Uncertain 3_127410959_G->T 3 127410959 127410959 G T snp 129.03 1/1 12 5 0 5 1.0 UTR3 rs814130 MGLL AU 0.71885 0.6696 Uncertain 3_127434580_G->A 3 127434580 127434580 G A snp 3719.77 1/1 99 132 0 132 1.0 intronic rs627498 MGLL AU NM_007283 exon3 c.18468+5072G>A 0.420727 0.376 0.4294 0.4059 Uncertain 3_127434856_C->T 3 127434856 127434856 C T snp 1662.77 1/1 99 54 0 54 1.0 intronic rs477554 MGLL AU NM_007283 exon4 c.28855-5039C>T 0.420727 0.376 Uncertain 3_127441239_T->A 3 127441239 127441239 T A snp 285.77 0/1 99 23 12 11 0.48 intronic rs2291372 MGLL AU NM_007283 exon5 c.30232-33T>A 0.0523163 0.1161 0.026904 0.0462 0.1195 Uncertain 3_127641968_C->A 3 127641968 127641968 C A snp 823.77 0/1 99 69 38 31 0.45 exonic rs4141499 KBTBD12 AU nonsynonymous SNV NM_207335 exon1 c.C64A p.Q22K 0.692692 0.6696 0.644189 0.6095 0.6316 0.31 T 0.000 P -0.964 T 0.0 T 0.0 T Pathogenic 3_127642814_G->C 3 127642814 127642814 G C snp 3040.77 0/1 99 239 117 122 0.51 exonic rs61268888 KBTBD12 AU nonsynonymous SNV NM_207335 exon1 c.G910C p.V304L 0.191094 0.2331 0.141187 0.1573 0.2035 0.24 T 0.0 P -1.069 T 0.0 T 0.0 T Pathogenic 3_127703085_G->A 3 127703085 127703085 G A snp 1398.77 0/1 99 95 38 57 0.6 exonic rs13100951 KBTBD12 AU synonymous SNV NM_207335 exon5 c.G1836A p.P612P 0.21905 0.2887 0.216208 0.2451 0.3111 Uncertain 3_127774722_A->G 3 127774722 127774722 A G snp 512.77 0/1 99 26 8 18 0.69 intronic rs6802633 SEC61A1 AU NM_013336 exon4 c.3199+128A>G 0.215655 0.0853 Uncertain 3_127774723_A->C 3 127774723 127774723 A C snp 512.77 0/1 99 26 8 18 0.69 intronic rs55662362 SEC61A1 AU NM_013336 exon4 c.3199+129A>C 0.215655 0.0853 Uncertain 3_127775480_G->T 3 127775480 127775480 G T snp 546.77 0/1 99 57 28 29 0.51 intronic rs9827668 SEC61A1 AU NM_013336 exon5 c.4156-71G>T 0.200679 0.0853 Uncertain 3_127775499_C->T 3 127775499 127775499 C T snp 723.77 0/1 99 69 36 33 0.48 intronic rs9827421 SEC61A1 AU NM_013336 exon5 c.4156-52C>T 0.200679 0.0853 Uncertain 3_127779220_C->T 3 127779220 127779220 C T snp 815.77 0/1 99 38 14 24 0.63 intronic rs9848345 SEC61A1 AU NM_013336 exon7 c.7955-130C>T 0.200679 0.0853 Uncertain 3_127779306_G->A 3 127779306 127779306 G A snp 1779.77 0/1 99 147 70 77 0.52 intronic rs2304018 SEC61A1 AU NM_013336 exon7 c.7955-44G>A 0.200679 0.0853 0.251499 0.2293 0.0856 Uncertain 3_127783698_A->T 3 127783698 127783698 A T snp 376.77 0/1 99 38 19 19 0.5 intronic rs1044843 SEC61A1 AU NM_013336 exon8 c.12324-21A>T 0.200679 0.0853 0.251422 0.2297 0.0862 Uncertain 3_127784118_T->C 3 127784118 127784118 T C snp 1148.77 0/1 99 94 50 44 0.47 intronic rs13070488 SEC61A1 AU NM_013336 exon8 c.12485+238T>C 0.200679 0.0853 Uncertain 3_127786551_G->A 3 127786551 127786551 G A snp 755.77 0/1 99 39 16 23 0.59 intronic rs9858267 SEC61A1 AU NM_013336 exon10 c.15060+96G>A 0.200679 0.0853 Uncertain 3_127786675_T->G 3 127786675 127786675 T G snp 584.77 0/1 99 39 17 22 0.56 intronic rs2276867 SEC61A1 AU NM_013336 exon11 c.15430-150T>G 0.200679 0.0853 Uncertain 3_127799983_A->C 3 127799983 127799983 A C snp 119.77 0/1 99 7 3 4 0.57 UTR3 rs1057220 RUVBL1 AU 0.196286 0.0853 Uncertain 3_127800071_A->G 3 127800071 127800071 A G snp 512.77 0/1 99 48 26 22 0.46 UTR3 rs1057156 RUVBL1 AU 0.20028 0.0853 0.251576 0.2323 0.0854 Uncertain 3_127838121_A->G 3 127838121 127838121 A G snp 1401.77 0/1 99 127 68 59 0.46 intronic rs190123657 RUVBL1 AU NM_003707 exon10 c.38078-49A>G 0.000599042 0.003 0.000077 0.0004 0.0063 Uncertain 3_127983495_T->C 3 127983495 127983495 T C snp 3810.77 1/1 99 143 0 143 1.0 exonic rs2811544 EEFSEC AU synonymous SNV NM_021937 exon4 c.T657C p.D219D 0.844449 0.9931 0.821236 0.8724 0.9965 Uncertain 3_128181537_C->T 3 128181537 128181537 C T snp 2045.77 0/1 99 206 109 97 0.47 exonic rs2953129 DNAJB8 AU synonymous SNV NM_153330 exon3 c.G552A p.S184S 0.198682 0.4008 0.140858 0.2007 0.4407 Uncertain 3_128182074_G->A 3 128182074 128182074 G A snp 2697.77 1/1 99 87 0 87 1.0 exonic rs2981026 DNAJB8 AU synonymous SNV NM_153330 exon3 c.C15T p.Y5Y 0.307508 0.4891 0.225511 0.3062 0.5481 Uncertain 3_128204951_C->T 3 128204951 128204951 C T snp 1273.77 0/1 99 95 49 46 0.48 exonic rs2335052 GATA2 AU,AD nonsynonymous SNV NM_032638 exon3 c.G490A p.A164T 0.232827 0.378 0.163847 0.2056 0.3840 0.41 T 0.271 P -1.065 T 0.013 T 0.025 T CLINSIG=untested;CLNDBN=not_specified;CLNREVSTAT=no_assertion_provided;CLNACC=RCV000121149.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 ID=COSM445531;OCCURENCE=1(breast),2(large_intestine) ID=CM066570;DIS=Coronary artery disease, association with;TAG=DP;PUB=16934006 DP Pathogenic 3_128205519_G->A 3 128205519 128205519 G A snp 41.77 0/1 70 4 2 2 0.5 intronic rs4577488 GATA2 AU,AD NM_001145662 exon5 c.5784-126G>A 0.230631 0.378 Uncertain 3_128205860_G->C 3 128205860 128205860 G C snp 1068.77 0/1 99 64 25 39 0.61 exonic rs1573858 GATA2 AU,AD synonymous SNV NM_032638 exon2 c.C15G p.P5P 0.709864 0.6944 0.693395 0.6943 0.7209 ID=COSM3749812;OCCURENCE=1(thyroid),4(large_intestine) Uncertain 3_128292060_G->A 3 128292060 128292060 G A snp 1356.77 1/1 99 48 0 48 1.0 ncRNA_exonic rs2734045 LINC01565 AU 0.515176 0.6171 Uncertain 3_128292213_A->G 3 128292213 128292213 A G snp 4290.77 1/1 99 155 0 155 1.0 ncRNA_exonic rs2734046 LINC01565 AU 0.828874 0.6825 0.884361 0.8241 0.7006 Uncertain 3_128340896_T->C 3 128340896 128340896 T C snp 463.77 1/1 36 12 0 12 1.0 intronic rs2712419 RPN1 AU NM_002950 exon2 c.1753-110T>C 0.639377 0.752 Uncertain 3_128344786_G->A 3 128344786 128344786 G A snp 4106.77 1/1 99 156 0 156 1.0 exonic rs1126828 RPN1 AU synonymous SNV NM_002950 exon7 c.C1206T p.D402D 0.238019 0.4147 0.198139 0.2243 0.4215 Uncertain 3_128348735_-->A 3 128348735 128348735 - A indel 963.73 1/1 93 31 0 31 1.0 intronic rs11453536 RPN1 AU NM_002950 exon6 c.9540-58insA 0.639377 0.752 Uncertain 3_128356852_C->T 3 128356852 128356852 C T snp 3810.77 1/1 99 137 0 137 1.0 exonic rs1697 RPN1 AU synonymous SNV NM_002950 exon3 c.G423A p.P141P 0.634185 0.752 0.603568 0.6094 0.7493 Uncertain 3_128363332_C->T 3 128363332 128363332 C T snp 267.8 1/1 21 8 0 8 1.0 intronic rs2811497 RPN1 AU NM_002950 exon9 c.24508-429C>T 0.634385 0.752 Uncertain 3_128369705_C->T 3 128369705 128369705 C T snp 312.77 0/1 99 20 10 10 0.5 UTR5 rs146500670 RPN1 AU 0.00539137 0.0238 Uncertain 3_128532447_CA->- 3 128532447 128532448 CA - indel 2052.73 0/1 99 172 87 85 0.49 UTR3 rs139417205 RAB7A AD Uncertain 3_128580574_T->C 3 128580574 128580574 T C snp 1110.77 0/1 99 98 48 50 0.51 ncRNA_exonic rs789248 LOC653712 AU 0.529752 0.6746 Uncertain 3_128580585_C->A 3 128580585 128580585 C A snp 1148.77 0/1 99 100 49 51 0.51 ncRNA_exonic rs789247 LOC653712 AU 0.327676 0.5645 Uncertain 3_128612659_G->C 3 128612659 128612659 G C snp 854.77 0/1 99 56 25 31 0.55 intronic rs1680780 ACAD9 AR NM_014049 exon3 c.13965+160G>C 0.46226 0.5714 Uncertain 3_128614075_-->A 3 128614075 128614075 - A indel 189.73 0/1 99 30 15 15 0.5 intronic rs11379527 ACAD9 AR NM_014049 exon4 c.15618-77insA 0.509185 0.5913 Uncertain 3_128614133_C->T 3 128614133 128614133 C T snp 902.77 0/1 99 90 54 36 0.4 intronic rs1683791 ACAD9 AR NM_014049 exon4 c.15618-19C>T 0.658147 0.6806 0.580886 0.5437 0.7106 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000152728.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 3_128614185_A->C 3 128614185 128614185 A C snp 1704.77 0/1 99 163 87 76 0.47 exonic rs1680778 ACAD9 AR synonymous SNV NM_014049 exon4 c.A379C p.R127R 0.543331 0.623 0.450254 0.4018 0.6562 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000152729.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 3_128616325_C->T 3 128616325 128616325 C T snp 1614.77 0/1 99 98 43 55 0.56 intronic rs1683804 ACAD9 AR NM_014049 exon6 c.17940-149C>T 0.648163 0.6726 Uncertain 3_128616359_C->G 3 128616359 128616359 C G snp 2552.77 0/1 99 197 93 104 0.53 intronic rs789213 ACAD9 AR NM_014049 exon6 c.17940-115C>G 0.32528 0.5625 Uncertain 3_128622760_G->T 3 128622760 128622760 G T snp 524.77 0/1 99 39 17 22 0.56 intronic rs1683776 ACAD9 AR NM_014049 exon10 c.24370-144G>T 0.296725 0.5675 Uncertain 3_128624880_T->G 3 128624880 128624880 T G snp 302.77 0/1 99 26 15 11 0.42 intronic rs1683777 ACAD9 AR NM_014049 exon12 c.26429-83T>G 0.527157 0.626 Uncertain 3_128626952_T->C 3 128626952 128626952 T C snp 1813.77 0/1 99 145 75 70 0.48 intronic rs1683786 ACAD9 AR NM_014049 exon13 c.28493-75T>C 0.517572 0.6181 Uncertain 3_128627021_A->G 3 128627021 128627021 A G snp 2956.77 0/1 99 250 127 123 0.49 intronic rs1683787 ACAD9 AR NM_014049 exon13 c.28493-6A>G 0.518171 0.6181 0.434107 0.3752 0.6506 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000152730.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 3_128627753_T->C 3 128627753 128627753 T C snp 859.77 0/1 99 86 53 33 0.38 intronic rs876754 ACAD9 AR NM_014049 exon14 c.29281-62T>C 0.517372 0.6181 Uncertain 3_128627933_C->T 3 128627933 128627933 C T snp 3102.77 0/1 99 250 120 130 0.52 exonic rs876755 ACAD9 AR synonymous SNV NM_014049 exon14 c.C1476T p.P492P 0.310304 0.5665 0.234430 0.2533 0.5835 Uncertain 3_128629505_-->TGAT 3 128629505 128629505 - TGAT indel 2902.73 0/1 99 116 67 49 0.42 intronic rs3830293 ACAD9 AR NM_014049 exon17 c.31049-78insTGAT 0.311102 0.5675 Uncertain 3_128653952_A->G 3 128653952 128653952 A G snp 572.77 0/1 99 27 8 19 0.7 intergenic rs883602 ACAD9 AR 0.518171 0.619 0.4968 0.6235 Uncertain 3_128720487_A->G 3 128720487 128720487 A G snp 455.77 0/1 99 31 15 16 0.52 exonic rs1871951 EFCC1 AU nonsynonymous SNV NM_024768 exon1 c.A16G p.T6A 0.695487 0.6677 0.6770 0.5 1 T 0.000 P -0.971 T 0.0 T 0.0 T Pathogenic 3_128722766_C->A 3 128722766 128722766 C A snp 840.77 0/1 99 51 17 34 0.67 exonic rs142391828 EFCC1 AU nonsynonymous SNV NM_024768 exon2 c.C826A p.R276S 0.0159744 0.0754 0.0063 0.2857 0.11 T 1.000 N -1.086 T 0.761 T 0.21 P Pathogenic 3_128755814_T->C 3 128755814 128755814 T C snp 1307.77 0/1 99 119 59 60 0.5 splicing rs3732429 EFCC1 AU NM_024768 exon6 c.35348-5T>C 0.615615 0.6329 0.574273 0.5273 0.6613 Pathogenic 3_128781048_G->A 3 128781048 128781048 G A snp 735.77 0/1 99 49 23 26 0.53 exonic rs3796130 GP9 AR nonsynonymous SNV NM_000174 exon3 c.G466A p.A156T 0.067492 0.2302 0.0800 0.4049 0.22 T 0.0 P -1.121 T 0.688 T 0.043 P ID=CM014862;DIS=Bernard-Soulier syndrome;TAG=DM?;PUB=11758225 DM? Pathogenic 3_128840034_T->C 3 128840034 128840034 T C snp 48.74 1/1 6 2 0 2 1.0 intronic rs9865992 ISY1-RAB43 AU NM_001204890 exon3 c.35063-8896T>C 0.916334 0.9891 Uncertain 3_128840427_G->C 3 128840427 128840427 G C snp 1074.77 0/1 99 50 20 30 0.6 UTR5 rs193116931 RAB43 AU 0.0153754 0.0724 Uncertain 3_128853622_C->G 3 128853622 128853622 C G snp 1850.77 1/1 99 64 0 64 1.0 intronic rs7646403 ISY1 AU NM_001199469 exon4 c.4751-52C>G 0.915335 0.9891 0.9498 0.9959 Uncertain 3_128859202_-->TTAG 3 128859202 128859202 - TTAG indel 12596.7 1/1 99 182 0 182 1.0 intronic rs10664499 ISY1 AU NM_001199469 exon6 c.10287-8insTTAG 0.97484 0.994 0.978387 0.9656 0.9981 Uncertain 3_128864520_C->G 3 128864520 128864520 C G snp 1867.77 1/1 99 64 0 64 1.0 intronic rs9842978 ISY1 AU NM_001199469 exon7 c.15680-83C>G 0.914936 0.9891 Uncertain 3_128864540_A->G 3 128864540 128864540 A G snp 2136.77 1/1 99 76 0 76 1.0 intronic rs9880527 ISY1 AU NM_001199469 exon7 c.15680-63A>G 0.914736 0.9891 Uncertain 3_128877521_C->T 3 128877521 128877521 C T snp 1021.77 1/1 75 31 0 31 1.0 intronic rs4452346 ISY1 AU NM_001199469 exon10 c.28479+119C>T 0.914936 0.9891 Uncertain 3_128890350_G->A 3 128890350 128890350 G A snp 6990.77 1/1 99 249 0 249 1.0 exonic rs4303883 CNBP AD synonymous SNV NM_003418 exon3 c.C156T p.D52D 0.757188 0.8879 0.791250 0.8900 0.8834 Uncertain 3_128979008_C->T 3 128979008 128979008 C T snp 151.77 0/1 99 9 4 5 0.56 intronic rs4927943 COPG1 AU NM_016128 exon11 c.10623-167C>T 0.232827 0.5585 Uncertain 3_128985743_C->- 3 128985743 128985743 C - indel 192.73 0/1 61 8 2 6 0.75 intronic rs562542106 COPG1 AU NM_016128 exon15 c.17314-123delC 0.000599042 0.003 Uncertain 3_129020778_A->G 3 129020778 129020778 A G snp 1644.77 0/1 99 113 48 65 0.58 intronic rs6765930 HMCES AU NM_020187 exon6 c.22217-14A>G 0.809704 0.6974 0.821083 0.7957 0.6992 Uncertain 3_129034578_G->A 3 129034578 129034578 G A snp 1644.77 0/1 99 209 133 76 0.36 exonic rs78450275 H1FX AU synonymous SNV NM_006026 exon1 c.C168T p.I56I 0.0658946 0.2569 0.001923 0.0460 0.3351 ID=COSM1162195;OCCURENCE=1(pancreas) Uncertain 3_129100018_G->A 3 129100018 129100018 G A snp 44.74 1/1 6 2 0 2 1.0 intergenic rs6439181 H1FX-AS1 AU 0.98103 0.996 Uncertain 3_129100053_G->A 3 129100053 129100053 G A snp 1033.77 1/1 78 30 0 30 1.0 intergenic rs6789093 H1FX-AS1 AU 0.289736 0.5317 Uncertain 3_129112747_T->C 3 129112747 129112747 T C snp 76.28 1/1 9 3 0 3 1.0 ncRNA_intronic rs59299958 RPL32P3 AU 0.453075 0.5794 Uncertain 3_129120743_A->G 3 129120743 129120743 A G snp 1970.77 1/1 99 71 1 70 0.99 intronic rs6764765 EFCAB12 AU NM_207307 exon1 c.259+49A>G 0.442292 0.6052 0.290218 0.2677 0.6176 Uncertain 3_129130197_T->C 3 129130197 129130197 T C snp 1335.77 1/1 96 48 0 48 1.0 exonic rs9836111 EFCAB12 AU nonsynonymous SNV NM_207307 exon5 c.A839G p.H280R 0.151158 0.4603 0.036144 0.0664 0.4395 0.35 T 0.0 P -0.968 T 0.0 T 0.0 T Pathogenic 3_129134242_G->A 3 129134242 129134242 G A snp 1659.77 1/1 99 60 0 60 1.0 exonic rs16859327 EFCAB12 AU synonymous SNV NM_207307 exon4 c.C684T p.V228V 0.151358 0.4603 0.035546 0.0621 0.4380 Uncertain 3_129134410_G->A 3 129134410 129134410 G A snp 57.74 1/1 6 3 0 3 1.0 intronic rs12633058 EFCAB12 AU NM_207307 exon6 c.13809+166G>A 0.151957 0.4603 Uncertain 3_129134435_G->C 3 129134435 129134435 G C snp 57.74 1/1 6 3 0 3 1.0 intronic rs9990139 EFCAB12 AU NM_207307 exon6 c.13809+191G>C 0.151358 0.4603 Uncertain 3_129136936_T->C 3 129136936 129136936 T C snp 99.28 1/1 9 3 0 3 1.0 intronic rs3796393 EFCAB12 AU NM_207307 exon7 c.16661-160T>C 0.151358 0.4603 Uncertain 3_129137127_G->A 3 129137127 129137127 G A snp 4211.77 1/1 99 157 0 157 1.0 exonic rs3796392 EFCAB12 AU synonymous SNV NM_207307 exon3 c.C651T p.T217T 0.151358 0.4603 0.035592 0.0626 0.4372 Uncertain 3_129140499_T->C 3 129140499 129140499 T C snp 5210.77 1/1 99 178 0 178 1.0 exonic rs3774787 EFCAB12 AU nonsynonymous SNV NM_207307 exon2 c.A197G p.E66G 0.151358 0.4603 0.035252 0.0616 0.4359 0.02 T 0.0 P -0.907 T 0.728 T 0.447 P Pathogenic 3_129140738_A->T 3 129140738 129140738 A T snp 1409.77 1/1 99 39 0 39 1.0 intronic rs60414131 EFCAB12 AU NM_207307 exon8 c.20211+92A>T 0.401558 0.5248 Uncertain 3_129151927_G->A 3 129151927 129151927 G A snp 4540.77 1/1 99 172 0 172 1.0 intronic rs140697 MBD4 AU NM_001276273 exon3 c.1597-13G>A 0.361621 0.5099 0.227972 0.1959 0.4783 Uncertain 3_129152144_T->C 3 129152144 129152144 T C snp 1481.77 1/1 99 43 0 43 1.0 intronic rs140695 MBD4 AU NM_001276273 exon3 c.1747+54T>C 0.851238 0.9752 Uncertain 3_129155451_C->T 3 129155451 129155451 C T snp 4919.77 1/1 99 162 0 162 1.0 exonic rs140693 MBD4 AU nonsynonymous SNV NM_003925 exon3 c.G1036A p.E346K 0.110623 0.4187 0.009918 0.0510 0.4030 0.74 T 0.0 P -1.073 T 0.012 T 0.005 T ID=CM067695;DIS=Lung adenocarcinoma, decreased risk, association with;TAG=DP;PUB=16803845 DP Pathogenic 3_129168649_C->T 3 129168649 129168649 C T snp 2265.77 0/1 99 176 84 92 0.52 intronic rs3774764 IFT122 AR NM_018262 exon2 c.9540-64C>T 0.00239617 0.0119 Uncertain 3_129185641_T->C 3 129185641 129185641 T C snp 443.77 1/1 36 15 0 15 1.0 intronic rs6770233 IFT122 AR NM_001280545 exon9 c.2221-91T>C 0.529153 0.6419 Uncertain 3_129185661_C->A 3 129185661 129185661 C A snp 647.77 1/1 48 21 0 21 1.0 intronic rs6805886 IFT122 AR NM_001280545 exon9 c.2221-71C>A 1 1 Uncertain 3_129188080_C->T 3 129188080 129188080 C T snp 1203.77 1/1 87 40 0 40 1.0 intronic rs2285351 IFT122 AR NM_018262 exon8 c.29011-104C>T 0.158347 0.4315 Uncertain 3_129188325_G->A 3 129188325 129188325 G A snp 357.78 1/1 27 14 0 14 1.0 intronic rs7612530 IFT122 AR NM_018262 exon8 c.29087+65G>A 0.48722 0.6419 Uncertain 3_129197115_C->G 3 129197115 129197115 C G snp 2642.77 1/1 99 79 1 78 0.99 intronic rs74719990 IFT122 AR NM_018262 exon11 c.37888+54C>G 0.158347 0.4306 Uncertain 3_129200256_T->G 3 129200256 129200256 T G snp 136.03 1/1 12 4 0 4 1.0 intronic rs80154470 IFT122 AR NM_018262 exon13 c.41199-116T>G 0.176318 0.4306 Uncertain 3_129202644_G->T 3 129202644 129202644 G T snp 364.77 1/1 30 13 0 13 1.0 intronic rs7610149 IFT122 AR NM_018262 exon14 c.43352+119G>T 0.365216 0.5198 Uncertain 3_129210977_G->C 3 129210977 129210977 G C snp 7124.77 1/1 99 250 0 250 1.0 intronic rs2285354 IFT122 AR NM_018262 exon16 c.51810-6G>C 0.536542 0.6746 0.383592 0.2920 0.6753 Uncertain 3_129231433_G->C 3 129231433 129231433 G C snp 1178.77 1/1 87 35 0 35 1.0 intronic rs2285355 IFT122 AR NM_018262 exon23 c.72082+178G>C 0.157748 0.4276 Uncertain 3_129233087_G->A 3 129233087 129233087 G A snp 2637.77 1/1 99 76 0 76 1.0 intronic rs59128281 IFT122 AR NM_018262 exon24 c.74058-144G>A 0.107827 0.4286 Uncertain 3_129234259_T->C 3 129234259 129234259 T C snp 35.74 1/1 6 4 0 4 1.0 intronic rs2260840 IFT122 AR NM_018262 exon25 c.75157-71T>C 0.490815 0.6329 Uncertain 3_129236146_G->C 3 129236146 129236146 G C snp 377.77 1/1 30 10 0 10 1.0 intronic rs35549328 IFT122 AR NM_018262 exon26 c.77138-165G>C 0.269768 0.502 Uncertain 3_129247526_G->A 3 129247526 129247526 G A snp 1592.77 1/1 99 47 0 47 1.0 UTR5 rs2269736 RHO AU,AD,AR 0.169728 0.4196 0.065057 0.0641 0.3925 Uncertain 3_129247551_A->G 3 129247551 129247551 A G snp 2585.77 1/1 99 84 0 84 1.0 UTR5 rs7984 RHO AU,AD,AR 0.528355 0.6319 0.379286 0.2869 0.6320 Uncertain 3_129252428_G->A 3 129252428 129252428 G A snp 2224.77 0/1 99 186 87 99 0.53 intronic rs2071092 RHO AU,AD,AR NM_000539 exon5 c.4874-22G>A 0.115016 0.2054 0.048362 0.0538 0.2302 Uncertain 3_129262077_G->A 3 129262077 129262077 G A snp 1379.77 0/1 99 136 73 63 0.46 exonic rs118098064 H1FOO AU nonsynonymous SNV NM_153833 exon1 c.G16A p.V6I 0.0850639 0.2173 0.007612 0.0506 0.2528 0.05 T 0.0 P -1.058 T 0.251 T 0.022 T Pathogenic 3_129266162_C->G 3 129266162 129266162 C G snp 1523.77 1/1 99 60 0 60 1.0 intronic rs2713617 H1FOO AU NM_153833 exon2 c.4172-71C>G 0.366813 0.6091 Uncertain 3_129269742_T->G 3 129269742 129269742 T G snp 153.77 0/1 99 10 4 6 0.6 intronic rs56690036 H1FOO AU NM_153833 exon4 c.7591+90T>G 0.148562 0.2143 Uncertain 3_129274363_G->A 3 129274363 129274363 G A snp 78.77 0/1 99 38 28 10 0.26 UTR3 rs1052910 PLXND1 AU 0.211661 0.2093 0.2085 0.2576 Uncertain 3_129275206_C->T 3 129275206 129275206 C T snp 2797.77 0/1 99 239 117 122 0.51 exonic rs11920311 PLXND1 AU synonymous SNV NM_015103 exon36 c.G5727A p.Q1909Q 0.232628 0.2103 0.183223 0.1679 0.2328 Uncertain 3_129275619_T->C 3 129275619 129275619 T C snp 318.77 0/1 99 31 18 13 0.42 intronic rs6801699 PLXND1 AU NM_015103 exon2 c.380+85T>C 0.234425 0.2113 Uncertain 3_129277146_A->C 3 129277146 129277146 A C snp 34.77 0/1 63 5 3 2 0.4 intronic rs2285358 PLXND1 AU NM_015103 exon4 c.2116-124A>C 0.24401 0.2113 Uncertain 3_129278447_C->- 3 129278447 129278447 C - indel 727.73 0/1 99 74 46 28 0.38 intronic rs60442867 PLXND1 AU NM_015103 exon5 c.3308-15delC 0.173123 0.0804 0.1510 0.0818 Uncertain 3_129279570_T->C 3 129279570 129279570 T C snp 1062.77 0/1 99 97 51 46 0.47 splicing rs2170774 PLXND1 AU NM_015103 exon7 c.4412+4T>C 0.233626 0.2123 0.183531 0.1685 0.2344 Pathogenic 3_129279597_C->T 3 129279597 129279597 C T snp 2760.77 1/1 99 111 1 110 0.99 intronic rs2713627 PLXND1 AU NM_015103 exon7 c.4412+31C>T 0.998403 1 0.9987 1 Uncertain 3_129279835_A->G 3 129279835 129279835 A G snp 1169.77 0/1 99 107 57 50 0.47 intronic rs72987969 PLXND1 AU NM_015103 exon7 c.4412+269A>G 0.107228 0.2113 0.0904 0.2316 Uncertain 3_129281718_C->T 3 129281718 129281718 C T snp 1945.77 0/1 99 155 77 78 0.5 exonic rs2285359 PLXND1 AU synonymous SNV NM_015103 exon27 c.G4737A p.T1579T 0.0920527 0.2113 0.008611 0.0541 0.2391 Uncertain 3_129281980_C->T 3 129281980 129281980 C T snp 1699.77 1/1 99 63 0 63 1.0 exonic rs2713625 PLXND1 AU nonsynonymous SNV NM_015103 exon26 c.G4625A p.S1542N 0.9998 1 0.999846 0.9999 1 0.64 T 0.000 P -0.971 T 0.0 T 0.0 T Pathogenic 3_129282137_T->C 3 129282137 129282137 T C snp 1087.77 1/1 81 38 0 38 1.0 intronic rs2713624 PLXND1 AU NM_015103 exon11 c.6929+54T>C 0.590855 0.6171 Uncertain 3_129286413_G->C 3 129286413 129286413 G C snp 4987.77 1/1 99 171 0 171 1.0 exonic rs2245285 PLXND1 AU synonymous SNV NM_015103 exon22 c.C4008G p.L1336L 0.517971 0.7431 0.400738 0.4176 0.7554 Uncertain 3_129286531_C->A 3 129286531 129286531 C A snp 3619.77 0/1 99 250 109 141 0.56 intronic rs2245281 PLXND1 AU NM_015103 exon16 c.11386-9C>A 0.400359 0.4931 0.379825 0.3304 0.4823 Uncertain 3_129286635_G->A 3 129286635 129286635 G A snp 2906.77 0/1 99 227 108 119 0.52 exonic rs2245278 PLXND1 AU synonymous SNV NM_015103 exon21 c.C3879T p.F1293F 0.264177 0.3869 0.263417 0.2653 0.3637 Uncertain 3_129289831_A->G 3 129289831 129289831 A G snp 7919.77 1/1 99 250 0 250 1.0 intronic rs2244962 PLXND1 AU NM_015103 exon19 c.14728-51A>G 0.528554 0.746 0.413498 Uncertain 3_129290087_G->A 3 129290087 129290087 G A snp 1793.77 0/1 99 118 50 68 0.58 exonic rs2285366 PLXND1 AU synonymous SNV NM_015103 exon18 c.C3396T p.N1132N 0.0942492 0.2341 0.010764 0.0569 0.2559 Uncertain 3_129290187_T->C 3 129290187 129290187 T C snp 526.77 0/1 99 35 13 22 0.63 intronic rs2285367 PLXND1 AU NM_015103 exon19 c.14992+41T>C 0.274161 0.4087 0.255706 0.2813 0.3984 Uncertain 3_129291389_G->A 3 129291389 129291389 G A snp 368.77 0/1 99 25 12 13 0.52 intronic rs142245860 PLXND1 AU NM_015103 exon22 c.16297-62G>A 0.000399361 0.002 Uncertain 3_129291751_T->C 3 129291751 129291751 T C snp 2433.77 0/1 99 223 106 117 0.52 exonic rs2244708 PLXND1 AU synonymous SNV NM_015103 exon14 c.A2871G p.P957P 0.430312 0.5119 0.404337 0.3429 0.5022 Uncertain 3_129291868_C->T 3 129291868 129291868 C T snp 566.77 0/1 99 42 24 18 0.43 intronic rs79343635 PLXND1 AU NM_015103 exon23 c.16630+84C>T 0.0930511 0.2331 Uncertain 3_129293106_G->C 3 129293106 129293106 G C snp 108.78 0/1 27 5 1 4 0.8 intronic rs6762822 PLXND1 AU NM_015103 exon25 c.18024-72G>C 0.52476 0.5278 Uncertain 3_129293183_T->C 3 129293183 129293183 T C snp 1162.77 1/1 84 39 0 39 1.0 exonic rs2625962 PLXND1 AU nonsynonymous SNV NM_015103 exon12 c.A2681G p.H894R 0.988219 1 0.989824 0.9974 1 0.83 T 0.000 P -0.945 T 0.0 T 0.002 T Pathogenic 3_129293256_T->C 3 129293256 129293256 T C snp 1185.77 0/1 99 95 46 49 0.52 exonic rs2255703 PLXND1 AU nonsynonymous SNV NM_015103 exon12 c.A2608G p.M870V 0.511981 0.5109 0.486308 0.4201 0.5042 0.45 T 0.0 P -0.991 T 0.0 T 0.0 T Pathogenic 3_129294456_C->T 3 129294456 129294456 C T snp 852.77 0/1 99 85 49 36 0.42 intronic rs2255508 PLXND1 AU NM_015103 exon26 c.19251+51C>T 0.228834 0.4028 0.167835 0.2080 0.4334 Uncertain 3_129294568_G->A 3 129294568 129294568 G A snp 1368.77 0/1 99 121 67 54 0.45 intronic rs746210 PLXND1 AU NM_015103 exon27 c.19454-40G>A 0.130192 0.2431 0.077142 0.1344 0.2929 Uncertain 3_129297223_C->G 3 129297223 129297223 C G snp 897.77 0/1 99 69 33 36 0.52 exonic rs1110168 PLXND1 AU synonymous SNV NM_015103 exon9 c.G2295C p.T765T 0.230831 0.4067 0.182070 0.2579 0.4243 Uncertain 3_129297478_C->T 3 129297478 129297478 C T snp 37.77 0/1 66 8 5 3 0.38 intronic rs11708809 PLXND1 AU NM_015103 exon28 c.22122+202C>T 0.129193 0.2401 Uncertain 3_129303197_T->C 3 129303197 129303197 T C snp 4477.77 1/1 99 123 0 123 1.0 intronic rs2811463 PLXND1 AU NM_015103 exon31 c.28073-30T>C 0.984824 0.999 0.987160 0.9961 0.9998 Uncertain 3_129303436_T->G 3 129303436 129303436 T G snp 2573.77 1/1 99 96 0 96 1.0 intronic rs2811462 PLXND1 AU NM_015103 exon31 c.28251+31T>G 0.339058 0.6468 0.217702 0.2767 0.6383 Uncertain 3_129303488_C->G 3 129303488 129303488 C G snp 386.77 0/1 99 36 20 16 0.44 intronic rs58763722 PLXND1 AU NM_015103 exon31 c.28251+83C>G 0.134185 0.2421 Uncertain 3_129308209_G->A 3 129308209 129308209 G A snp 182.77 0/1 99 18 11 7 0.39 exonic rs2285373 PLXND1 AU synonymous SNV NM_015103 exon2 c.C1473T p.N491N 0.134185 0.2421 0.081732 0.1281 0.2697 Uncertain 3_129324193_A->G 3 129324193 129324193 A G snp 232.84 1/1 18 9 0 9 1.0 exonic rs7619850 PLXND1 AU synonymous SNV NM_015103 exon1 c.T1290C p.C430C 0.978435 1 0.983620 0.9973 1 Uncertain 3_129370756_C->A 3 129370756 129370756 C A snp 56.74 1/1 6 2 0 2 1.0 intronic rs5021445 TMCC1 AU NM_001128224 exon1 c.315+118C>A Uncertain 3_129370758_G->A 3 129370758 129370758 G A snp 56.74 1/1 6 2 0 2 1.0 intronic rs2310917 TMCC1 AU NM_001128224 exon1 c.315+120G>A 0.23722 0.5883 Uncertain 3_129546729_T->C 3 129546729 129546729 T C snp 6879.77 1/1 99 233 1 232 1.0 exonic rs784689 TMCC1 AU nonsynonymous SNV NM_001017395 exon3 c.A493G p.S165G 0.965256 0.998 0.963017 0.9893 0.9974 0.41 T 1.000 P -0.992 T 0.0 T 0.0 T Pathogenic 3_129694681_C->G 3 129694681 129694681 C G snp 106.77 0/1 99 15 10 5 0.33 exonic rs5658 TRH AR nonsynonymous SNV NM_007117 exon2 c.C22G p.L8V 0.224042 0.3631 0.121198 0.1651 0.3356 0.21 T 0.113 P -0.982 T 0.757 T 0.25 P Pathogenic 3_129694934_C->A 3 129694934 129694934 C A snp 1078.77 1/1 78 33 0 33 1.0 intronic rs784705 TRH AR NM_007117 exon2 c.211+64C>A 0.958067 1 Uncertain 3_129695038_G->A 3 129695038 129695038 G A snp 54.74 1/1 6 2 0 2 1.0 intronic rs11921179 TRH AR NM_007117 exon2 c.211+168G>A 0.958267 1 Uncertain 3_129695440_G->T 3 129695440 129695440 G T snp 43.77 0/1 72 5 3 2 0.4 intronic rs13097335 TRH AR NM_007117 exon3 c.882-101G>T 0.248802 0.247 Uncertain 3_129695538_C->T 3 129695538 129695538 C T snp 1809.77 1/1 99 53 0 53 1.0 splicing rs784704 TRH AR NM_007117 exon3 c.882-3C>T 0.957668 0.998 0.953022 0.9868 0.9972 Pathogenic 3_129695954_T->C 3 129695954 129695954 T C snp 2143.77 1/1 99 79 0 79 1.0 exonic rs5662 TRH AR synonymous SNV NM_007117 exon3 c.T624C p.L208L 0.958067 1 0.952832 0.9870 1 Uncertain 3_129696041_A->G 3 129696041 129696041 A G snp 1912.77 1/1 99 69 0 69 1.0 exonic rs5663 TRH AR synonymous SNV NM_007117 exon3 c.A711G p.R237R 0.958067 1 0.952598 0.9867 1 Uncertain 3_130108063_A->G 3 130108063 130108063 A G snp 1011.77 0/1 99 54 18 36 0.67 intronic rs57575291 COL6A5 AU NM_001278298 exon6 c.15496+86A>G 0.402756 0.629 Uncertain 3_130109993_T->C 3 130109993 130109993 T C snp 2159.77 0/1 99 187 101 86 0.46 intronic rs35898730 COL6A5 AU NM_001278298 exon7 c.17540-28T>C 0.090655 0.0893 0.096583 0.1161 0.0745 Uncertain 3_130110550_A->G 3 130110550 130110550 A G snp 757.77 0/1 99 54 21 33 0.61 exonic rs11917356 COL6A5 AU nonsynonymous SNV NM_001278298 exon7 c.A2945G p.D982G 0.375 0.625 0.231932 0.2742 0.6220 0.54 T 0.000 P -0.948 T 0.021 T 0.019 T Pathogenic 3_130113717_C->A 3 130113717 130113717 C A snp 231.77 0/1 99 25 13 12 0.48 intronic rs73868764 COL6A5 AU NM_001278298 exon8 c.21251-15C>A 0.0638978 0.0893 0.038546 0.0395 0.0748 Uncertain 3_130114409_C->- 3 130114409 130114409 C - indel 3604.73 1/1 99 91 0 91 1.0 intronic rs397698485 COL6A5 AU NM_001278298 exon8 c.21827+101delC 1 1 Uncertain 3_130120509_C->T 3 130120509 130120509 C T snp 1060.77 0/1 99 74 33 41 0.55 intronic rs2123567 COL6A5 AU NM_001278298 exon12 c.28124-96C>T 0.185304 0.2708 Uncertain 3_130122410_G->- 3 130122410 130122410 G - indel 1454.73 0/1 99 148 77 71 0.48 intronic rs397714858 COL6A5 AU NM_001278298 exon13 c.29971-42delG 0.794928 0.8006 0.8115 0.8055 Uncertain 3_130124297_T->A 3 130124297 130124297 T A snp 1449.77 0/1 99 110 51 59 0.54 intronic rs75754894 COL6A5 AU NM_001278298 exon14 c.31950-134T>A 0.0395367 0.1022 Uncertain 3_130129322_G->C 3 130129322 130129322 G C snp 1895.77 0/1 99 134 52 82 0.61 exonic rs35886424 COL6A5 AU nonsynonymous SNV NM_001278298 exon20 c.G4616C p.S1539T 0.109625 0.1081 0.125712 0.1333 0.0981 0.38 T 0.0 P -0.833 T 0.0 T 0.0 T Pathogenic 3_130129517_-->G 3 130129517 130129517 - G indel 2208.73 0/1 99 109 52 57 0.52 intronic rs35209265 COL6A5 AU NM_001278298 exon20 c.36887+149insG 0.109625 0.1081 Uncertain 3_130132202_C->T 3 130132202 130132202 C T snp 550.77 0/1 99 32 15 17 0.53 intronic rs16827446 COL6A5 AU NM_001278298 exon21 c.39907-186C>T 0.0800719 0.1022 Uncertain 3_130132851_A->G 3 130132851 130132851 A G snp 1246.77 0/1 99 104 52 52 0.5 intronic rs10512767 COL6A5 AU NM_001278298 exon22 c.40431-61A>G 0.546126 0.2907 0.768843 Uncertain 3_130134453_C->T 3 130134453 130134453 C T snp 743.77 0/1 99 67 34 33 0.49 intronic rs13070906 COL6A5 AU NM_001278298 exon23 c.42007-35C>T 0.067492 0.1022 0.0795 0.0858 Uncertain 3_130134454_A->G 3 130134454 130134454 A G snp 790.77 0/1 99 68 34 34 0.5 intronic rs13070741 COL6A5 AU NM_001278298 exon23 c.42007-34A>G 0.0798722 0.1022 0.033947 0.0829 0.0858 Uncertain 3_130134563_G->A 3 130134563 130134563 G A snp 963.77 0/1 99 78 35 43 0.55 intronic rs7628563 COL6A5 AU NM_001278298 exon23 c.42070+12G>A 0.525759 0.2788 0.743539 0.6948 0.2834 Uncertain 3_130135456_T->C 3 130135456 130135456 T C snp 655.77 0/1 99 43 16 27 0.63 intronic rs6439233 COL6A5 AU NM_001278298 exon24 c.43119-144T>C 0.667732 0.4593 Uncertain 3_130135575_A->T 3 130135575 130135575 A T snp 697.77 0/1 99 74 43 31 0.42 intronic rs4688798 COL6A5 AU NM_001278298 exon24 c.43119-25A>T 0.640575 0.4593 0.808585 0.7952 0.4726 Uncertain 3_130135644_C->A 3 130135644 130135644 C A snp 305.77 0/1 99 47 32 15 0.32 exonic rs76864445 COL6A5 AU nonsynonymous SNV NM_001278298 exon24 c.C4868A p.P1623H 0.0391374 0.1022 0.015769 0.0291 0.0855 0.04 T 0.996 N -0.596 T 0.999 D 0.96 D Pathogenic 3_130139884_C->T 3 130139884 130139884 C T snp 40.74 1/1 6 2 0 2 1.0 intronic rs12636289 COL6A5 AU NM_001278298 exon26 c.47515-112C>T 0.180511 0.2708 Uncertain 3_130141452_A->G 3 130141452 130141452 A G snp 288.78 1/1 24 9 0 9 1.0 intronic rs976325 COL6A5 AU NM_001278298 exon28 c.49082-111A>G 0.179113 0.2708 Uncertain 3_130142584_A->T 3 130142584 130142584 A T snp 485.77 1/1 36 18 0 18 1.0 intronic rs2896545 COL6A5 AU NM_001278298 exon29 c.50200-97A>T 0.228435 0.2927 Uncertain 3_130142843_C->T 3 130142843 130142843 C T snp 680.77 1/1 51 20 0 20 1.0 intronic rs976558 COL6A5 AU NM_001278298 exon29 c.50263+99C>T 0.175719 0.2708 Uncertain 3_130144984_G->C 3 130144984 130144984 G C snp 212.84 1/1 18 7 0 7 1.0 intronic rs1874599 COL6A5 AU NM_001278298 exon30 c.52576-73G>C 0.976637 1 0.979632 Uncertain 3_130145175_G->A 3 130145175 130145175 G A snp 4236.77 1/1 99 146 0 146 1.0 intronic rs9859372 COL6A5 AU NM_001278298 exon31 c.52729-35G>A 0.223243 0.2917 0.184625 0.2379 0.2460 Uncertain 3_130148510_C->T 3 130148510 130148510 C T snp 2680.77 0/1 99 246 132 114 0.46 intronic rs9875499 COL6A5 AU NM_001278298 exon32 c.55947+82C>T 0.220647 0.3373 0.173237 Uncertain 3_130159688_G->A 3 130159688 130159688 G A snp 1192.77 0/1 99 63 24 39 0.62 intronic rs78410669 COL6A5 AU NM_001278298 exon35 c.67188+19G>A 0.0479233 0.1091 0.019496 0.0285 0.1107 Uncertain 3_130162395_A->G 3 130162395 130162395 A G snp 2320.77 0/1 99 181 86 95 0.52 exonic rs9883988 COL6A5 AU nonsynonymous SNV NM_001278298 exon36 c.A6563G p.Q2188R 0.854233 0.8452 0.896807 0.9144 0.8459 0.55 T 0.0 P -0.965 T 0.0 T 0.001 T Pathogenic 3_130174334_G->A 3 130174334 130174334 G A snp 3305.77 1/1 99 141 3 138 0.98 exonic rs819085 COL6A5 AU nonsynonymous SNV NM_001278298 exon37 c.G6614A p.G2205D 0.903155 0.9563 0.919267 0.9319 0.9460 0.49 T 0.0 P -0.985 T 0.004 T 0.009 T Pathogenic 3_130187817_T->C 3 130187817 130187817 T C snp 1967.77 0/1 99 160 76 84 0.53 exonic rs322113 COL6A5 AU synonymous SNV NM_001278298 exon38 c.T6969C p.I2323I 0.890176 0.8899 0.887988 0.9095 0.8958 0.000 P -1.081 T Likely benign 3_130189918_-->TG 3 130189918 130189918 - TG indel 361.73 0/1 99 41 11 30 0.73 intronic rs147244067 COL6A5 AU NM_001278298 exon39 c.97330+107insTG Uncertain 3_130190630_G->A 3 130190630 130190630 G A snp 2672.77 0/1 99 211 95 116 0.55 exonic rs322117 COL6A5 AU nonsynonymous SNV NM_001278298 exon40 c.G7679A p.S2560N 0.765575 0.8482 0.8039 0.8687 0.76 T 0.0 P -0.951 T 0.0 T 0.0 T Pathogenic 3_130190721_T->- 3 130190721 130190721 T - indel 3330.73 0/1 99 182 80 102 0.56 exonic rs11355796 COL6A5 AU frameshift deletion NM_001278298 exon40 c.7770delT p.H2590fs 0.491613 0.4177 0.6425 0.4531 Pathogenic 3_130190777_G->A 3 130190777 130190777 G A snp 1608.77 0/1 99 116 52 64 0.55 intronic rs322118 COL6A5 AU NM_001278298 exon40 c.98289+7G>A 0.765375 0.8482 0.8059 0.8763 Uncertain 3_130282567_G->A 3 130282567 130282567 G A snp 673.77 0/1 99 60 36 24 0.4 intronic rs78652791 COL6A6 AU NM_001102608 exon2 c.3300+59G>A 0.136382 0.2649 Uncertain 3_130289617_T->C 3 130289617 130289617 T C snp 5934.77 1/1 99 210 0 210 1.0 intronic rs10934949 COL6A6 AU NM_001102608 exon6 c.10453-44T>C 0.822684 0.9216 0.853855 0.9341 0.8961 Uncertain 3_130308702_A->G 3 130308702 130308702 A G snp 891.77 1/1 63 36 0 36 1.0 intronic rs4515022 COL6A6 AU NM_001102608 exon11 c.28818+676A>G 0.982428 0.9702 Uncertain 3_130311398_C->T 3 130311398 130311398 C T snp 860.77 0/1 99 76 37 39 0.51 exonic rs73868925 COL6A6 AU nonsynonymous SNV NM_001102608 exon13 c.C4286T p.A1429V 0.169129 0.2222 0.095258 0.1733 0.2628 0.65 T 0.0 P -0.994 T 0.002 T 0.007 T Pathogenic 3_130313017_T->G 3 130313017 130313017 T G snp 143.03 1/1 12 5 0 5 1.0 intronic rs1467015 COL6A6 AU NM_001102608 exon17 c.33916-107T>G 0.983626 0.9772 Uncertain 3_130317341_G->A 3 130317341 130317341 G A snp 4948.77 1/1 99 187 0 187 1.0 intronic rs4336088 COL6A6 AU NM_001102608 exon18 c.38066+67G>A 0.999201 1 Uncertain 3_130569557_T->G 3 130569557 130569557 T G snp 1055.77 0/1 99 95 54 41 0.43 intergenic rs1316658 PIK3R4 AU 0.764976 0.8264 Uncertain 3_130683005_-->A 3 130683005 130683005 - A indel 1238.73 0/1 99 67 29 38 0.57 intronic rs140015524 ATP2C1 AD NM_014382 exon12 c.69326+66insA 0.11262 0.1716 Uncertain 3_130711967_-->G 3 130711967 130711967 - G indel 168.73 0/1 99 21 15 6 0.29 intronic rs200441574 ATP2C1 AD NM_014382 exon20 c.98232+122insG 0.0175719 0.0625 Uncertain 3_130715748_A->C 3 130715748 130715748 A C snp 642.77 0/1 99 59 32 27 0.46 intronic rs3773814 ATP2C1 AD NM_014382 exon23 c.102027+108A>C 0.0938498 0.1022 Uncertain 3_130718472_G->A 3 130718472 130718472 G A snp 1745.77 0/1 99 172 87 85 0.49 exonic rs16835513 ATP2C1 AD synonymous SNV NM_014382 exon26 c.G2598A p.K866K 0.114617 0.1597 0.114639 0.1558 0.1841 1.0 P -1.063 T Likely benign 3_130734887_-->T 3 130734887 130734887 - T indel 705.73 1/1 62 30 1 29 0.97 intronic rs34645149 ASTE1 AU NM_014065 exon2 c.2087-100insT 0.4918 0.6261 Uncertain 3_130737632_A->G 3 130737632 130737632 A G snp 171.77 0/1 91 9 3 6 0.67 intronic rs218503 ASTE1 AU NM_014065 exon3 c.4660+72A>G 0.545927 0.4484 Uncertain 3_130851196_C->T 3 130851196 130851196 C T snp 631.77 0/1 99 60 30 30 0.5 intronic rs6769160 NEK11 AU NM_145910 exon6 c.103036-392C>T 0.148562 0.1448 Uncertain 3_130851666_A->G 3 130851666 130851666 A G snp 551.77 0/1 99 33 11 22 0.67 intronic rs780835666 NEK11 AU NM_145910 exon6 c.103101+13A>G 6.475e-05 0.0008 Uncertain 3_130851686_G->A 3 130851686 130851686 G A snp 133.77 0/1 99 22 15 7 0.32 intronic rs6772241 NEK11 AU NM_145910 exon6 c.103101+33G>A 0.228435 0.1448 0.212561 0.2267 0.1883 Uncertain 3_130852185_T->C 3 130852185 130852185 T C snp 963.77 1/1 69 34 0 34 1.0 intronic rs2674613 NEK11 AU NM_145910 exon7 c.104121-488T>C 0.842053 0.8522 0.8195 0.8258 Uncertain 3_130852186_G->A 3 130852186 130852186 G A snp 963.77 1/1 69 34 0 34 1.0 intronic rs2674612 NEK11 AU NM_145910 exon7 c.104121-487G>A 0.414936 0.5635 0.2520 0.5682 Uncertain 3_130874017_T->C 3 130874017 130874017 T C snp 457.77 0/1 99 33 14 19 0.58 intronic rs1400012 NEK11 AU NM_145910 exon10 c.125413+52T>C 0.148962 0.4177 0.047468 0.1071 0.4379 Uncertain 3_130884418_A->T 3 130884418 130884418 A T snp 255.77 0/1 99 30 16 14 0.47 intronic rs959073 NEK11 AU NM_145910 exon12 c.135811+55A>T 0.169928 0.4177 0.064389 Uncertain 3_130893844_C->T 3 130893844 130893844 C T snp 41.77 0/1 70 4 2 2 0.5 UTR3 rs7639697 NEK11 AU 0.215855 0.1478 Uncertain 3_130962492_A->G 3 130962492 130962492 A G snp 223.77 0/1 99 15 6 9 0.6 intronic rs1469386 NEK11 AU NM_001146003 exon15 c.213788+152A>G 0.269369 0.2827 Uncertain 3_130992114_A->G 3 130992114 130992114 A G snp 345.77 0/1 99 22 11 11 0.5 intronic rs16836261 NEK11 AU NM_024800 exon17 c.243769-207A>G 0.190495 0.2827 Uncertain 3_130992385_T->C 3 130992385 130992385 T C snp 2151.77 0/1 99 151 67 84 0.56 exonic rs16836266 NEK11 AU nonsynonymous SNV NM_024800 exon17 c.T1685C p.V562A 0.189297 0.2837 0.130094 0.1065 0.3115 0.52 T 0.0 P -1.041 T 0.0 T 0.001 T Pathogenic 3_131102053_A->G 3 131102053 131102053 A G snp 632.77 0/1 99 46 15 31 0.67 exonic rs11549806 NUDT16 AU synonymous SNV NM_001171905 exon3 c.A318G p.V106V 0.071885 0.1667 0.030447 0.0533 0.1974 Uncertain 3_131186894_A->- 3 131186894 131186894 A - indel 161.73 0/1 75 14 5 9 0.64 intronic rs397991106 MRPL3 AR NM_007208 exon2 c.5368-40delA 0.5198 0.4940 Uncertain 3_131188378_AC->- 3 131188378 131188379 AC - indel 405.73 0/1 99 19 7 12 0.63 intronic rs147441558 MRPL3 AR NM_007208 exon3 c.6973-161_6973-160delAC 0.547324 0.4315 Uncertain 3_131220550_G->A 3 131220550 131220550 G A snp 365.77 0/1 99 40 21 19 0.47 exonic rs79534309 MRPL3 AR synonymous SNV NM_007208 exon2 c.C102T p.I34I 0.0151757 0.0685 0.000231 0.0053 0.0579 Uncertain 3_131261663_G->- 3 131261663 131261663 G - indel 5096.73 1/1 99 181 2 179 0.99 intronic rs10716194 CPNE4 AU NM_130808 exon2 c.7599+26delG 0.995607 0.9911 0.9951 0.9931 Uncertain 3_131261773_A->G 3 131261773 131261773 A G snp 405.77 0/1 99 22 10 12 0.55 intronic rs72997269 CPNE4 AU NM_130808 exon2 c.7599+136A>G 0.0650958 0.0506 Uncertain 3_131268824_T->C 3 131268824 131268824 T C snp 693.77 0/1 99 81 49 32 0.4 exonic rs11915192 CPNE4 AU synonymous SNV NM_001289112 exon14 c.A1323G p.S441S 0.175319 0.1141 0.164770 0.1456 0.0913 Uncertain 3_131271164_G->A 3 131271164 131271164 G A snp 1390.77 0/1 99 136 81 55 0.4 intronic rs3817076 CPNE4 AU NM_130808 exon4 c.17245-119G>A 0.191094 0.1141 Uncertain 3_131271180_T->C 3 131271180 131271180 T C snp 1499.77 0/1 99 156 94 62 0.4 intronic rs994967 CPNE4 AU NM_130808 exon4 c.17245-103T>C 0.370807 0.1746 Uncertain 3_131271181_G->A 3 131271181 131271181 G A snp 1565.77 0/1 99 159 94 65 0.41 intronic rs2270965 CPNE4 AU NM_130808 exon4 c.17245-102G>A 0.191094 0.1141 Uncertain 3_131271439_T->C 3 131271439 131271439 T C snp 933.77 1/1 69 26 0 26 1.0 intronic rs2251178 CPNE4 AU NM_130808 exon4 c.17297+104T>C 0.421326 0.2897 Uncertain 3_131300680_T->G 3 131300680 131300680 T G snp 116.77 0/1 64 6 2 4 0.67 intronic rs72999223 CPNE4 AU NM_130808 exon8 c.46471+171T>G 0.0880591 0.0625 Uncertain 3_131306567_A->G 3 131306567 131306567 A G snp 43.77 0/1 72 4 2 2 0.5 intronic rs3748809 CPNE4 AU NM_130808 exon9 c.52388+141A>G 0.048123 0.0625 Uncertain 3_131388642_G->A 3 131388642 131388642 G A snp 1351.77 0/1 99 126 70 56 0.44 intronic rs73218422 CPNE4 AU NM_130808 exon10 c.134570+34G>A 0.0373403 0.0893 0.029679 0.0412 0.1115 Uncertain 3_131388823_C->T 3 131388823 131388823 C T snp 90.28 1/1 9 3 0 3 1.0 intronic rs1566692 CPNE4 AU NM_130808 exon10 c.134570+215C>T 0.844249 0.6081 Uncertain 3_131404572_A->C 3 131404572 131404572 A C snp 1616.77 1/1 99 50 0 50 1.0 intronic rs6439314 CPNE4 AU NM_130808 exon11 c.150680-146A>C 0.867812 0.62 Uncertain 3_131624120_C->G 3 131624120 131624120 C G snp 348.77 0/1 99 44 27 17 0.39 exonic rs3749263 CPNE4 AU synonymous SNV NM_001289112 exon2 c.G222C p.G74G 0.175319 0.1508 0.167307 0.1160 0.1407 Uncertain 3_131756241_T->C 3 131756241 131756241 T C snp 802.77 0/1 99 64 34 30 0.47 intronic rs2141570 CPNE4 AU NM_153429 exon16 c.502362-159T>C 0.882987 0.744 Uncertain 3_131756349_A->G 3 131756349 131756349 A G snp 2613.77 0/1 99 210 92 118 0.56 intronic rs1569282 CPNE4 AU NM_153429 exon16 c.502362-51A>G 0.352037 0.2579 Uncertain 3_131756375_A->G 3 131756375 131756375 A G snp 2812.77 0/1 99 213 93 120 0.56 intronic rs1569281 CPNE4 AU NM_153429 exon16 c.502362-25A>G 0.609225 0.3958 0.7392 0.3429 Uncertain 3_132063643_T->C 3 132063643 132063643 T C snp 107.77 0/1 99 9 5 4 0.44 intronic rs972775 ACPP AU NM_001099 exon7 c.27470-127T>C 0.417732 0.1567 Uncertain 3_132063914_A->T 3 132063914 132063914 A T snp 1338.77 0/1 99 136 74 62 0.46 intronic rs972774 ACPP AU NM_001099 exon7 c.27603+11A>T 0.436701 0.2004 0.544441 0.5339 0.2030 Uncertain 3_132068831_C->T 3 132068831 132068831 C T snp 530.77 0/1 99 48 25 23 0.48 exonic rs2228402 ACPP AU synonymous SNV NM_001292037 exon7 c.C750T p.L250L 0.395567 0.1171 0.500308 0.4712 0.1100 Uncertain 3_132068876_G->A 3 132068876 132068876 G A snp 561.77 0/1 99 57 30 27 0.47 intronic rs2290542 ACPP AU NM_001099 exon8 c.32546+30G>A 0.395567 0.1171 0.500231 0.4698 0.1111 Uncertain 3_132068925_A->T 3 132068925 132068925 A T snp 468.77 0/1 99 58 36 22 0.38 intronic rs2290541 ACPP AU NM_001099 exon8 c.32546+79A>T 0.395567 0.1171 Uncertain 3_132069070_A->G 3 132069070 132069070 A G snp 35.77 0/1 64 7 5 2 0.29 intronic rs2290540 ACPP AU NM_001099 exon8 c.32546+224A>G 0.395567 0.1171 Uncertain 3_132071452_G->T 3 132071452 132071452 G T snp 723.77 0/1 99 32 9 23 0.72 intronic rs17242113 ACPP AU NM_001099 exon9 c.35263-111G>T 0.303315 0.0804 Uncertain 3_132075554_T->C 3 132075554 132075554 T C snp 585.77 0/1 99 48 25 23 0.48 exonic rs3181784 ACPP AU synonymous SNV NM_001292037 exon9 c.T894C p.Y298Y 0.303514 0.0804 0.363986 0.3390 0.0762 1.000 P -1.012 T Likely benign 3_132075707_A->G 3 132075707 132075707 A G snp 1551.77 0/1 99 147 80 67 0.46 exonic rs2071505 ACPP AU synonymous SNV NM_001292037 exon9 c.A1047G p.E349E 0.396166 0.119 0.500538 0.4718 0.1114 Uncertain 3_132075746_G->A 3 132075746 132075746 G A snp 1118.77 0/1 99 107 54 53 0.5 UTR3 rs1042330 ACPP AU 0.396166 0.119 0.497386 0.4724 0.1125 Uncertain 3_132172086_ACAG->- 3 132172086 132172089 ACAG - indel 343.73 0/1 99 24 17 7 0.29 intronic DNAJC13 AU NM_015268 exon7 c.18747-55_18747-52delACAG Uncertain 3_132176310_G->C 3 132176310 132176310 G C snp 701.77 0/1 99 48 22 26 0.54 intronic rs75854838 DNAJC13 AU NM_015268 exon13 c.22818+98G>C 0.166334 0.4563 Uncertain 3_132179073_T->- 3 132179073 132179073 T - indel 170.73 0/1 99 47 33 14 0.3 intronic rs398082468 DNAJC13 AU NM_015268 exon14 c.25699-20delT 0.292732 0.495 0.2913 0.5229 Uncertain 3_132184725_T->- 3 132184725 132184725 T - indel 442.73 0/1 99 27 11 16 0.59 intronic DNAJC13 AU NM_015268 exon18 c.31444-113delT Uncertain 3_132196816_A->T 3 132196816 132196816 A T snp 1036.77 0/1 99 83 40 43 0.52 intronic rs2369796 DNAJC13 AU NM_015268 exon24 c.43430-8A>T 0.734824 0.88 0.615414 0.5195 0.8629 Uncertain 3_132203683_C->T 3 132203683 132203683 C T snp 41.77 0/1 70 4 2 2 0.5 intronic rs11712240 DNAJC13 AU NM_015268 exon29 c.50122+167C>T 0.173323 0.502 Uncertain 3_132218196_C->T 3 132218196 132218196 C T snp 1020.77 0/1 99 61 26 35 0.57 intronic rs2088712 DNAJC13 AU NM_015268 exon37 c.64760+42C>T 0.551717 0.7361 0.441489 0.4150 0.7696 Uncertain 3_132218267_A->G 3 132218267 132218267 A G snp 193.77 0/1 99 9 3 6 0.67 intronic rs75643663 DNAJC13 AU NM_015268 exon37 c.64760+113A>G 0.0191693 0.0913 Uncertain 3_132218623_G->T 3 132218623 132218623 G T snp 1778.77 0/1 99 230 145 85 0.37 exonic rs3762672 DNAJC13 AU nonsynonymous SNV NM_015268 exon38 c.G4387T p.A1463S 0.739018 0.8839 0.618791 0.5693 0.9074 1 T 0.001 P -0.949 T 0.0 T 0.0 T Pathogenic 3_132221077_T->- 3 132221077 132221077 T - indel 487.73 0/1 6 34 5 29 0.85 intronic rs11293788 DNAJC13 AU NM_015268 exon40 c.67738-55delT 0.542931 0.5417 Uncertain 3_132233712_G->C 3 132233712 132233712 G C snp 46.77 0/1 33 3 1 2 0.67 intronic rs11706865 DNAJC13 AU NM_015268 exon46 c.80120+198G>C 0.19349 0.5 Uncertain 3_132235044_A->C 3 132235044 132235044 A C snp 99.28 1/1 9 3 0 3 1.0 intronic rs3762675 DNAJC13 AU NM_015268 exon47 c.81871-221A>C 0.172724 0.5 Uncertain 3_132235047_A->G 3 132235047 132235047 A G snp 99.28 1/1 9 3 0 3 1.0 intronic rs3762676 DNAJC13 AU NM_015268 exon47 c.81871-218A>G 0.614417 0.7361 Uncertain 3_132235077_C->T 3 132235077 132235077 C T snp 122.77 0/1 58 6 2 4 0.67 intronic rs3762677 DNAJC13 AU NM_015268 exon47 c.81871-188C>T 0.1877 0.499 Uncertain 3_132235794_C->G 3 132235794 132235794 C G snp 155.77 0/1 99 9 4 5 0.56 intronic rs954309 DNAJC13 AU NM_015268 exon48 c.82266+134C>G 0.714058 0.8532 Uncertain 3_132244406_G->A 3 132244406 132244406 G A snp 841.77 0/1 99 89 49 40 0.45 intronic rs754993 DNAJC13 AU NM_015268 exon52 c.91059-47G>A 0.733826 0.8819 0.608445 0.5597 0.9083 Uncertain 3_132298558_T->C 3 132298558 132298558 T C snp 572.77 0/1 99 27 8 19 0.7 ncRNA_intronic rs3762678 NPHP3-ACAD11 AU 0.0189696 0.0873 Uncertain 3_132322262_T->G 3 132322262 132322262 T G snp 103.77 0/1 99 12 7 5 0.42 ncRNA_intronic rs2305623 NPHP3-ACAD11 AU 0.196486 0.503 Uncertain 3_132346992_C->T 3 132346992 132346992 C T snp 62.77 0/1 91 12 9 3 0.25 ncRNA_intronic rs2305627 NPHP3-ACAD11 AU 0.496605 0.6944 Uncertain 3_132347311_A->G 3 132347311 132347311 A G snp 828.77 0/1 99 74 43 31 0.42 ncRNA_intronic rs61650247 NPHP3-ACAD11 AU 0.191893 0.504 0.099492 0.1408 0.5354 Uncertain 3_132360883_C->T 3 132360883 132360883 C T snp 3846.77 1/1 99 138 0 138 1.0 exonic rs821572 ACAD11 AU nonsynonymous SNV NM_032169 exon4 c.G470A p.R157H 1 1 1 1 1 T 1.0 P -0.944 T 0.0 T 0.0 T Pathogenic 3_132363527_T->C 3 132363527 132363527 T C snp 67.77 0/1 28 4 1 3 0.75 ncRNA_intronic rs1079367 NPHP3-ACAD11 AU 0.521965 0.6944 Uncertain 3_132363786_T->A 3 132363786 132363786 T A snp 770.77 0/1 99 52 19 33 0.63 ncRNA_intronic rs72628560 NPHP3-ACAD11 AU 0.192692 0.5069 0.099277 0.1370 0.5409 Uncertain 3_132394556_T->C 3 132394556 132394556 T C snp 345.77 0/1 99 38 19 19 0.5 ncRNA_intronic rs2305629 NPHP3-ACAD11 AU 0.536542 0.7619 0.409714 0.3646 0.7735 Uncertain 3_132394784_A->T 3 132394784 132394784 A T snp 459.77 0/1 99 41 19 22 0.54 ncRNA_intronic rs12635575 NPHP3-ACAD11 AU 0.327875 0.5714 0.225913 0.2187 0.5978 Uncertain 3_132395811_G->T 3 132395811 132395811 G T snp 634.77 0/1 99 71 41 30 0.42 ncRNA_intronic rs1058331 NPHP3-ACAD11 AU 0.227236 0.5704 Uncertain 3_132401421_G->A 3 132401421 132401421 G A snp 177.77 0/1 99 20 11 9 0.45 ncRNA_intronic rs6792074 NPHP3-ACAD11 AU 0.528554 0.755 Uncertain 3_132401600_C->T 3 132401600 132401600 C T snp 884.77 0/1 99 103 59 44 0.43 exonic rs6794496 NPHP3 AR synonymous SNV NM_153240 exon26 c.G3759A p.L1253L 0.223243 0.5714 0.126480 0.1639 0.5884 Uncertain 3_132406076_A->G 3 132406076 132406076 A G snp 407.77 0/1 99 36 18 18 0.5 splicing NPHP3 AR NM_153240 exon6 c.5317+6A>G Pathogenic 3_132407481_-->A 3 132407481 132407481 - A indel 770.73 0/1 99 93 61 32 0.34 ncRNA_intronic rs11396595 NPHP3-ACAD11 AU 0.21905 0.5724 0.119649 0.1639 0.5902 Uncertain 3_132413875_G->A 3 132413875 132413875 G A snp 1079.77 0/1 99 87 41 46 0.53 ncRNA_intronic rs12633369 NPHP3-ACAD11 AU 0.18151 0.5734 Uncertain 3_132413941_A->C 3 132413941 132413941 A C snp 140.77 0/1 99 16 10 6 0.38 ncRNA_intronic rs10804612 NPHP3-ACAD11 AU 0.524161 0.7579 Uncertain 3_132413996_T->C 3 132413996 132413996 T C snp 37.77 0/1 66 4 2 2 0.5 ncRNA_intronic rs10935028 NPHP3-ACAD11 AU 0.234625 0.5794 Uncertain 3_132435532_C->T 3 132435532 132435532 C T snp 245.84 0/1 18 10 1 9 0.9 ncRNA_intronic rs67092166 NPHP3-ACAD11 AU 0.292532 0.6429 Uncertain 3_132435823_C->T 3 132435823 132435823 C T snp 365.77 0/1 99 40 21 19 0.47 ncRNA_intronic rs11718115 NPHP3-ACAD11 AU 0.489816 0.754 Uncertain 3_132435871_A->G 3 132435871 132435871 A G snp 112.77 0/1 99 13 7 6 0.46 ncRNA_intronic rs72628561 NPHP3-ACAD11 AU 0.232827 0.5724 Uncertain 3_132436902_T->- 3 132436902 132436902 T - indel 1313.73 1/1 99 41 0 41 1.0 ncRNA_intronic rs35348816 NPHP3-ACAD11 AU 0.748602 0.9187 0.5923 0.9031 Uncertain 3_132436967_A->G 3 132436967 132436967 A G snp 395.77 0/1 99 51 30 21 0.41 ncRNA_intronic rs66564593 NPHP3-ACAD11 AU 0.290935 0.5694 0.2239 0.5303 Uncertain 3_132438719_T->C 3 132438719 132438719 T C snp 114.77 0/1 67 9 3 6 0.67 ncRNA_intronic rs12631786 NPHP3-ACAD11 AU 0.29992 0.5685 0.175259 0.2398 0.5719 Uncertain 3_133099245_G->A 3 133099245 133099245 G A snp 2407.77 0/1 99 212 101 111 0.52 exonic rs1197314 TMEM108 AU synonymous SNV NM_001136469 exon4 c.G690A p.P230P 0.380192 0.3909 0.387206 0.4253 0.4249 Uncertain 3_133108978_A->G 3 133108978 133108978 A G snp 527.77 0/1 99 56 32 24 0.43 intronic rs1197296 TMEM108 AU NM_001136469 exon5 c.160868-45A>G 0.316693 0.3968 0.327926 0.3969 0.4300 Uncertain 3_133114513_A->C 3 133114513 133114513 A C snp 118.77 0/1 99 11 5 6 0.55 intronic rs1197301 TMEM108 AU NM_001136469 exon6 c.166552-194A>C 0.304912 0.4087 Uncertain 3_133114893_C->T 3 133114893 133114893 C T snp 187.9 1/1 15 7 0 7 1.0 UTR3 rs1197300 TMEM108 AU 1 1 Uncertain 3_133166403_A->G 3 133166403 133166403 A G snp 819.77 1/1 60 23 0 23 1.0 intronic rs7644197 BFSP2 AD NM_003571 exon2 c.47316+160A>G 0.920727 0.9107 Uncertain 3_133167363_G->A 3 133167363 133167363 G A snp 1448.77 1/1 99 55 0 55 1.0 exonic rs2276737 BFSP2 AD synonymous SNV NM_003571 exon3 c.G603A p.A201A 0.436502 0.5853 0.464017 0.5441 0.5909 Uncertain 3_133185834_T->C 3 133185834 133185834 T C snp 1615.77 1/1 99 62 0 62 1.0 intronic rs2737717 BFSP2 AD NM_003571 exon5 c.66876+31T>C 0.502596 0.6012 0.427803 0.4527 0.6242 Uncertain 3_133191453_A->G 3 133191453 133191453 A G snp 86.28 1/1 9 3 0 3 1.0 intronic rs7628499 BFSP2 AD NM_003571 exon6 c.72482+44A>G 0.616214 0.6796 0.630746 0.7189 0.6912 Uncertain 3_133307491_T->C 3 133307491 133307491 T C snp 338.78 1/1 27 9 0 9 1.0 UTR3 rs6792846 CDV3 AU 0.921925 0.9772 Uncertain 3_133327342_C->T 3 133327342 133327342 C T snp 1608.77 0/1 99 128 63 65 0.51 intronic rs34239013 TOPBP1 AU NM_007027 exon2 c.7285-36C>T 0.0129792 0.0427 0.006487 0.0105 0.0267 Uncertain 3_133327457_T->C 3 133327457 133327457 T C snp 2398.77 0/1 99 210 107 103 0.49 exonic rs1051772 TOPBP1 AU synonymous SNV NM_007027 exon27 c.A4347G p.S1449S 0.0930511 0.0506 0.112800 0.0834 0.0326 Uncertain 3_133329943_G->A 3 133329943 133329943 G A snp 5921.77 1/1 99 223 0 223 1.0 exonic rs1444601 TOPBP1 AU synonymous SNV NM_007027 exon25 c.C4078T p.L1360L 0.682109 0.626 0.746786 0.6905 0.5792 Uncertain 3_133331230_C->T 3 133331230 133331230 C T snp 608.77 0/1 99 71 41 30 0.42 splicing rs71317417 TOPBP1 AU NM_007027 exon5 c.11139-2C>T 0.066893 0.0437 0.083001 0.0677 0.0271 Pathogenic 3_133335787_C->T 3 133335787 133335787 C T snp 887.77 1/1 66 30 0 30 1.0 intronic rs3732574 TOPBP1 AU NM_007027 exon6 c.15676+18C>T 0.632188 0.626 0.698745 0.6891 0.6039 Uncertain 3_133339340_A->G 3 133339340 133339340 A G snp 262.8 1/1 21 7 0 7 1.0 intronic rs2887747 TOPBP1 AU NM_007027 exon9 c.19098+149A>G 0.915735 0.9772 Uncertain 3_133368362_T->G 3 133368362 133368362 T G snp 7438.77 1/1 99 249 1 248 1.0 exonic rs3192149 TOPBP1 AU nonsynonymous SNV NM_007027 exon10 c.A1369C p.K457Q 0.695887 0.625 0.772827 0.7159 0.5800 0.71 T 0.000 P -1.029 T 0.0 T 0.0 T Pathogenic 3_133374030_T->C 3 133374030 133374030 T C snp 96.28 1/1 9 3 0 3 1.0 intronic rs7639941 TOPBP1 AU NM_007027 exon23 c.54040-103T>C 0.978435 0.9802 Uncertain 3_133375475_G->C 3 133375475 133375475 G C snp 454.77 0/1 99 26 10 16 0.62 intronic rs9838963 TOPBP1 AU NM_007027 exon24 c.55426-44G>C 0.095647 0.0506 0.115856 0.0868 0.0332 Uncertain 3_133375785_G->A 3 133375785 133375785 G A snp 2488.77 1/1 99 75 0 75 1.0 intronic rs2718801 TOPBP1 AU NM_007027 exon24 c.55608+84G>A 0.879593 0.9792 Uncertain 3_133376850_A->G 3 133376850 133376850 A G snp 610.77 0/1 99 46 25 21 0.46 intronic rs9810823 TOPBP1 AU NM_007027 exon25 c.56692+65A>G 0.0690895 0.0437 Uncertain 3_133380128_A->G 3 133380128 133380128 A G snp 248.77 0/1 99 21 11 10 0.48 intronic rs9827019 TOPBP1 AU NM_007027 exon27 c.59885+150A>G 0.0692891 0.0437 Uncertain 3_133380130_T->C 3 133380130 133380130 T C snp 595.77 1/1 45 19 0 19 1.0 intronic rs2718805 TOPBP1 AU NM_007027 exon27 c.59885+152T>C 0.985823 0.9802 Uncertain 3_133465201_G->T 3 133465201 133465201 G T snp 1140.77 0/1 99 109 55 54 0.5 UTR5 rs8177186 TF AR 0.141374 0.247 ID=CR043390;DIS=Altered promoter activity;TAG=FP;PUB=15511631 FP Uncertain 3_133465283_A->G 3 133465283 133465283 A G snp 2518.77 1/1 99 90 0 90 1.0 UTR5 rs1130459 TF AR 0.666134 0.7401 0.575089 0.6229 0.7788 Uncertain 3_133465353_G->T 3 133465353 133465353 G T snp 470.77 0/1 99 55 32 23 0.42 intronic rs8177187 TF AR NM_001063 exon1 c.43+26G>T 0.0255591 0.0387 0.013304 0.0181 0.0212 Uncertain 3_133474328_G->A 3 133474328 133474328 G A snp 2162.77 0/1 99 171 76 95 0.56 exonic rs12769 TF AR synonymous SNV NM_001063 exon5 c.G624A p.S208S 0.311302 0.4454 0.259803 0.3305 0.4229 Uncertain 3_133475722_C->T 3 133475722 133475722 C T snp 1806.77 0/1 99 185 101 84 0.45 exonic rs1799852 TF AR synonymous SNV NM_001063 exon7 c.C739T p.L247L 0.142572 0.2232 0.085115 0.1289 0.2651 Uncertain 3_133476421_C->G 3 133476421 133476421 C G snp 128.03 1/1 12 4 0 4 1.0 intronic rs8177237 TF AR NM_001063 exon8 c.11328-191C>G 0.55611 0.6597 Uncertain 3_133476852_C->T 3 133476852 133476852 C T snp 164.77 0/1 57 8 2 6 0.75 intronic rs3811658 TF AR NM_001063 exon8 c.11506+62C>T 0.321685 0.4286 Uncertain 3_133483696_T->C 3 133483696 133483696 T C snp 1891.77 0/1 99 160 76 84 0.53 intronic rs1880669 TF AR NM_001063 exon11 c.18434-22T>C 0.502196 0.498 0.520990 0.5605 0.4609 Uncertain 3_133485133_A->G 3 133485133 133485133 A G snp 4972.77 1/1 99 187 0 187 1.0 exonic rs2692696 TF AR nonsynonymous SNV NM_001063 exon12 c.A1342G p.I448V 0.993211 0.999 0.999616 0.9932 1 1 T 0.000 P -0.959 T 0.0 T 0.0 T Pathogenic 3_133493706_T->- 3 133493706 133493706 T - indel 856.73 1/1 77 44 2 42 0.95 intronic rs35736766 TF AR NM_001063 exon15 c.28992-570delT 0.938898 0.9831 0.5741 0.6356 Uncertain 3_133553527_C->T 3 133553527 133553527 C T snp 969.77 1/1 75 33 0 33 1.0 intronic rs2280672 RAB6B AU NM_016577 exon2 c.5854+42C>T 0.527756 0.3978 0.609565 0.5802 0.4123 Uncertain 3_133556965_CCGTGCCGGGCC->- 3 133556965 133556976 CCGTGCCGGGCC - indel 12305.7 1/1 99 89 0 89 1.0 intronic rs139009223 RAB6B AU NM_016577 exon3 c.9378-44_9378-33delCCGTGCCGGGCC 0.48143 0.3929 0.568371 0.5317 0.4011 Uncertain 3_133560423_G->A 3 133560423 133560423 G A snp 859.77 0/1 99 95 50 45 0.47 intronic rs41272335 RAB6B AU NM_016577 exon6 c.12822-30G>A 0.0696885 0.0218 0.108873 0.0750 0.0184 Uncertain 3_133614517_C->A 3 133614517 133614517 C A snp 48.74 1/1 6 2 0 2 1.0 UTR5 rs9811568 RAB6B AU 0.442492 0.2817 Uncertain 3_133654846_G->A 3 133654846 133654846 G A snp 193.77 0/1 94 9 3 6 0.67 intronic rs7616492 SLCO2A1 AR NM_005630 exon2 c.1185+105G>A 0.229633 0.253 Uncertain 3_133667937_G->A 3 133667937 133667937 G A snp 242.77 0/1 99 23 13 10 0.43 intronic rs190568605 SLCO2A1 AR NM_005630 exon8 c.14259+122G>A 0.00219649 Uncertain 3_133692497_A->G 3 133692497 133692497 A G snp 823.77 1/1 60 27 0 27 1.0 intronic rs4634113 SLCO2A1 AR NM_005630 exon12 c.38950-9A>G 0.904553 0.9812 0.870752 0.8743 0.9908 Uncertain 3_133692743_C->T 3 133692743 133692743 C T snp 1416.77 1/1 99 55 1 54 0.98 intronic rs4241362 SLCO2A1 AR NM_005630 exon12 c.39113+74C>T 0.904752 0.9812 Uncertain 3_133698280_C->G 3 133698280 133698280 C G snp 3567.77 1/1 99 122 0 122 1.0 intronic rs4640563 SLCO2A1 AR NM_005630 exon13 c.44768-44C>G 0.896965 0.9375 0.878748 0.8963 0.9364 Uncertain 3_133698349_C->T 3 133698349 133698349 C T snp 1695.77 0/1 99 196 118 78 0.4 exonic rs10935090 SLCO2A1 AR synonymous SNV NM_005630 exon2 c.G210A p.S70S 0.255192 0.5357 0.129017 0.1907 0.5587 Uncertain 3_133877235_G->A 3 133877235 133877235 G A snp 575.77 0/1 99 37 17 20 0.54 intronic rs570145502 RYK AU NM_002958 exon1 c.112+127G>A Uncertain 3_133878346_-->A 3 133878346 133878346 - A indel 147.73 0/1 99 23 7 16 0.7 intronic rs75582300 RYK AU NM_002958 exon2 c.1221+129insA 0.208267 0.3234 Uncertain 3_133894390_G->A 3 133894390 133894390 G A snp 139.03 1/1 12 4 0 4 1.0 intronic rs9858000 RYK AU NM_002958 exon3 c.17456-62G>A 0.597244 0.8105 Uncertain 3_133894761_T->G 3 133894761 133894761 T G snp 397.77 0/1 99 23 9 14 0.61 intronic rs28622917 RYK AU NM_002958 exon4 c.17777-12T>G 0.147963 0.3651 0.077623 0.1279 0.3889 Uncertain 3_133911020_A->C 3 133911020 133911020 A C snp 83.77 0/1 69 5 2 3 0.6 intronic rs79798304 RYK AU NM_001005861 exon8 c.33831+193A>C 0.204673 0.3244 Uncertain 3_133913889_T->C 3 133913889 133913889 T C snp 2189.77 0/1 99 181 85 96 0.53 intronic rs12631354 RYK AU NM_002958 exon9 c.36929-36T>C 0.209665 0.3244 0.059250 0.1170 0.3253 Uncertain 3_133941320_C->T 3 133941320 133941320 C T snp 229.77 0/1 99 23 12 11 0.48 exonic rs1131262 RYK AU unknown 0.222244 0.4792 0.127185 0.1603 0.4612 0.55 T 1.000 P -0.885 T Uncertain 3_133941534_A->G 3 133941534 133941534 A G snp 223.84 1/1 18 8 0 8 1.0 intronic rs7611104 RYK AU NM_002958 exon14 c.64387+151A>G 0.846446 0.995 Uncertain 3_133969352_G->A 3 133969352 133969352 G A snp 31.77 0/1 60 11 8 3 0.27 exonic rs139860270 RYK AU unknown 0.21246 0.4812 0.2489 0.4310 0.007 P -0.910 T Uncertain 3_134077470_C->G 3 134077470 134077470 C G snp 723.77 0/1 99 61 29 32 0.52 exonic rs1353776 AMOTL2 AU nonsynonymous SNV NM_001278683 exon9 c.G2367C p.E789D 0.808706 0.9246 0.730817 0.7111 0.9218 1 T 0.0 P -0.860 T 0.0 T 0.001 T Pathogenic 3_134080661_A->G 3 134080661 134080661 A G snp 2741.77 1/1 99 103 0 103 1.0 intronic rs1077718 AMOTL2 AU NM_001278685 exon5 c.4103+12A>G 0.934704 0.9623 0.925978 0.9194 0.9705 Uncertain 3_134085071_AAGT->- 3 134085071 134085074 AAGT - indel 2270.73 0/1 99 87 49 38 0.44 intronic rs398052286 AMOTL2 AU NM_001278685 exon7 c.8578-53_8578-50delAAGT 0.180511 0.0784 Uncertain 3_134085370_G->A 3 134085370 134085370 G A snp 54.74 1/1 6 2 0 2 1.0 intronic rs7613066 AMOTL2 AU NM_001278685 exon7 c.8723+101G>A 0.180711 0.0784 Uncertain 3_134213981_T->C 3 134213981 134213981 T C snp 108.77 0/1 99 7 3 4 0.57 intronic rs17694011 CEP63 AR 0.682308 0.8214 Uncertain 3_134214042_T->C 3 134214042 134214042 T C snp 321.77 0/1 99 27 15 12 0.44 intronic rs62269547 CEP63 AR 0.682308 0.8214 Uncertain 3_134225969_T->C 3 134225969 134225969 T C snp 1714.77 0/1 99 159 87 72 0.45 exonic rs9827878 CEP63 AR synonymous SNV NM_025180 exon4 c.T63C p.C21C 0.171925 0.2183 0.145548 0.1728 0.2134 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000116684.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 3_134226159_C->T 3 134226159 134226159 C T snp 994.77 0/1 99 102 59 43 0.42 intronic rs6766818 CEP63 AR NM_001042383 exon3 c.11966+31C>T 0.708666 0.8313 0.642780 0.7000 0.8276 Uncertain 3_134266124_A->G 3 134266124 134266124 A G snp 993.77 0/1 99 89 42 47 0.53 intronic rs12637751 CEP63 AR NM_025180 exon10 c.52014-52A>G 0.276558 0.1687 Uncertain 3_134266148_G->C 3 134266148 134266148 G C snp 2814.77 1/1 99 105 0 105 1.0 intronic rs12632372 CEP63 AR NM_025180 exon10 c.52014-28G>C 0.995607 1 0.995541 0.9988 1 Uncertain 3_134266321_A->G 3 134266321 134266321 A G snp 603.77 0/1 99 53 27 26 0.49 intronic rs11927068 CEP63 AR NM_025180 exon10 c.52152+7A>G 0.276757 0.1687 0.338382 0.2986 0.1740 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000116678.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 3_134270886_A->C 3 134270886 134270886 A C snp 107.77 0/1 99 17 10 7 0.41 intronic rs9821505 CEP63 AR NM_001042383 exon11 c.56692+32A>C 0.115615 0.2103 0.097383 0.1421 0.2050 Uncertain 3_134277195_-->T 3 134277195 134277195 - T indel 184.73 0/1 99 21 8 13 0.62 splicing rs35934324 CEP63 AR NM_025180 exon14 c.63027+6insT 0.276558 0.1687 0.335785 0.3113 0.1890 Pathogenic 3_134280395_T->A 3 134280395 134280395 T A snp 1858.77 1/1 99 64 0 64 1.0 UTR3 rs6777283 CEP63 AR 0.996805 1 0.998462 0.9995 1 Uncertain 3_134322742_A->G 3 134322742 134322742 A G snp 2050.77 0/1 99 187 105 82 0.44 exonic rs2293293 KY AU synonymous SNV NM_178554 exon11 c.T1665C p.L555L 0.684105 0.8829 0.613555 0.6720 0.8859 Uncertain 3_134322814_G->C 3 134322814 134322814 G C snp 2095.77 0/1 99 143 60 83 0.58 exonic rs2293294 KY AU synonymous SNV NM_178554 exon11 c.C1593G p.G531G 0.295927 0.1101 0.365323 0.3221 0.1126 Uncertain 3_134323156_A->G 3 134323156 134323156 A G snp 4367.77 1/1 99 155 0 155 1.0 exonic rs4955535 KY AU synonymous SNV NM_178554 exon11 c.T1251C p.F417F 0.996006 1 0.996309 0.9989 1 Uncertain 3_134331874_T->C 3 134331874 134331874 T C snp 1376.77 1/1 99 49 0 49 1.0 intronic rs7626611 KY AU NM_178554 exon3 c.6805+2649T>C 0.978634 1 Uncertain 3_134331980_C->T 3 134331980 134331980 C T snp 665.77 0/1 99 81 50 31 0.38 intronic rs9838119 KY AU NM_178554 exon3 c.6805+2755C>T 0.682708 0.8819 Uncertain 3_134346990_G->T 3 134346990 134346990 G T snp 93.28 1/1 9 3 0 3 1.0 intronic rs4245906 KY AU NM_178554 exon7 c.24240+330G>T 0.973442 1 Uncertain 3_134348638_C->A 3 134348638 134348638 C A snp 673.77 0/1 99 72 41 31 0.43 intronic rs62270962 KY AU NM_178554 exon8 c.26117+101C>A 0.0710863 0.0347 Uncertain 3_134514579_T->C 3 134514579 134514579 T C snp 6600.77 1/1 99 234 1 233 1.0 intronic rs9852662 EPHB1 AU NM_004441 exon1 c.58+48T>C 0.978634 1 0.980704 0.9941 0.9999 Uncertain 3_134644517_A->G 3 134644517 134644517 A G snp 43.77 0/1 72 4 2 2 0.5 intronic rs36187 EPHB1 AU NM_004441 exon2 c.130184-140A>G 0.592652 0.499 Uncertain 3_134644636_G->T 3 134644636 134644636 G T snp 512.77 0/1 99 53 28 25 0.47 intronic rs635721 EPHB1 AU NM_004441 exon2 c.130184-21G>T 0.591853 0.499 0.567586 0.5918 0.5619 Uncertain 3_134670524_C->T 3 134670524 134670524 C T snp 2300.77 0/1 99 200 102 98 0.49 exonic rs7644369 EPHB1 AU synonymous SNV NM_004441 exon3 c.C435T p.S145S 0.48143 0.2123 0.487872 0.4628 0.1890 Uncertain 3_134697009_-->C 3 134697009 134697009 - C indel 135.73 0/1 99 12 7 5 0.42 intronic rs35290347 EPHB1 AU NM_004441 exon3 c.156421+26115insC 0.551717 0.1736 Uncertain 3_134825512_G->C 3 134825512 134825512 G C snp 1078.77 0/1 99 87 39 48 0.55 intronic rs3732567 EPHB1 AU NM_004441 exon4 c.310972+67G>C 0.336062 0.7728 Uncertain 3_134884652_A->C 3 134884652 134884652 A C snp 676.77 1/1 51 20 0 20 1.0 intronic rs1159404 EPHB1 AU NM_004441 exon8 c.370336-157A>C 0.46885 0.4256 Uncertain 3_134968465_T->C 3 134968465 134968465 T C snp 706.77 1/1 54 19 0 19 1.0 intronic rs4243397 EPHB1 AU NM_004441 exon15 c.453860+132T>C 0.957468 1 Uncertain 3_135720241_T->C 3 135720241 135720241 T C snp 741.77 0/1 99 35 13 22 0.63 UTR5 rs4678432 PPP2R3A AU 0.306709 0.1984 Uncertain 3_135720851_G->T 3 135720851 135720851 G T snp 2541.77 0/1 99 234 118 116 0.5 exonic rs6779903 PPP2R3A AU nonsynonymous SNV NM_002718 exon2 c.G511T p.A171S 0.345647 0.1964 0.353298 0.2979 0.2045 0.72 T 0.0 P -1.021 T 0.0 T 0.0 T Pathogenic 3_135759669_-->G 3 135759669 135759669 - G indel 663.73 0/1 99 49 28 21 0.43 intronic rs3832193 PPP2R3A AU NM_001190447 exon3 c.13814-31insG 0.369609 0.1944 0.380770 0.3426 0.2304 Uncertain 3_135913665_A->G 3 135913665 135913665 A G snp 669.77 1/1 51 18 0 18 1.0 intronic rs1992952 MSL2 AU NM_018133 exon2 c.43825-148A>G 0.999401 1 Uncertain 3_135969519_A->G 3 135969519 135969519 A G snp 158.77 0/1 99 11 5 6 0.55 intronic PCCB AR NM_001178014 exon1 c.183+119A>G Uncertain 3_135975496_T->C 3 135975496 135975496 T C snp 1675.77 0/1 99 141 71 70 0.5 intronic rs16843829 PCCB AR NM_001178014 exon3 c.6248+31T>C 0.0329473 0.1607 0.000923 0.0140 0.1839 ID=COSN167022;OCCURENCE=1(large_intestine) Uncertain 3_135980673_C->T 3 135980673 135980673 C T snp 346.77 0/1 99 28 15 13 0.46 intronic rs2290131 PCCB AR NM_001178014 exon6 c.11576-120C>T 0.279752 0.5417 Uncertain 3_136059537_G->C 3 136059537 136059537 G C snp 2997.77 1/1 99 105 0 105 1.0 intronic rs503973 STAG1 AU NM_005862 exon3 c.2352+90G>C 0.861022 0.9881 Uncertain 3_136196071_C->T 3 136196071 136196071 C T snp 1518.77 1/1 99 57 0 57 1.0 intronic rs1394092 STAG1 AU NM_005862 exon25 c.139035-59C>T 0.753794 0.8482 Uncertain 3_136218930_C->T 3 136218930 136218930 C T snp 56.74 1/1 6 2 0 2 1.0 intronic rs900048 STAG1 AU NM_005862 exon26 c.161969-134C>T 0.748602 0.8433 Uncertain 3_136573289_G->A 3 136573289 136573289 G A snp 1498.77 1/1 99 58 0 58 1.0 ncRNA_intronic rs9865545 NCK1-AS1 AU 0.702077 0.8492 0.660723 0.7133 0.8644 Uncertain 3_136573440_A->G 3 136573440 136573440 A G snp 5707.77 1/1 99 222 1 221 1.0 exonic rs9827648 SLC35G2 AU synonymous SNV NM_001097599 exon2 c.A138G p.G46G 0.704872 0.8502 0.667718 0.7135 0.8645 Uncertain 3_136574148_C->T 3 136574148 136574148 C T snp 3316.77 0/1 99 250 134 116 0.46 exonic rs201471005 SLC35G2 AU synonymous SNV NM_001097599 exon2 c.C846T p.I282I Uncertain 3_136574501_A->G 3 136574501 136574501 A G snp 2080.77 1/1 99 61 0 61 1.0 exonic rs1052618 SLC35G2 AU nonsynonymous SNV NM_001097599 exon2 c.A1199G p.K400R 0.712859 0.8502 0.673689 0.7150 0.8643 1 T 0.000 P -0.980 T 0.0 T 0.0 T Pathogenic 3_136649463_C->T 3 136649463 136649463 C T snp 1420.77 1/1 99 46 0 46 1.0 intronic rs7648817 NCK1 AU NM_001190796 exon1 c.34+27C>T 0.713658 0.8502 0.7247 0.8925 Uncertain 3_136699134_T->- 3 136699134 136699134 T - indel 116.8 1/1 18 6 0 6 1.0 intronic rs397874637 IL20RB AU NM_144717 exon2 c.22352-173delT 0.688698 0.875 0.5697 0.7226 Uncertain 3_136699561_C->A 3 136699561 136699561 C A snp 50.74 1/1 6 2 0 2 1.0 intronic rs361241 IL20RB AU NM_144717 exon2 c.22479+127C>A 0.515775 0.6865 Uncertain 3_136701295_G->T 3 136701295 136701295 G T snp 56.74 1/1 6 2 0 2 1.0 intronic rs361239 IL20RB AU NM_144717 exon3 c.24237+103G>T 0.515375 0.6855 Uncertain 3_136728886_G->T 3 136728886 136728886 G T snp 259.8 1/1 21 9 0 9 1.0 intronic rs361235 IL20RB AU NM_144717 exon7 c.51999-68G>T 0.685503 0.9048 Uncertain 3_136730716_CT->- 3 136730716 136730717 CT - indel 800.73 0/1 99 32 12 20 0.63 downstream rs201095974 IL20RB AU 0.00858626 0.0427 0.0014 0.0517 Uncertain 3_136739388_T->- 3 136739388 136739388 T - indel 3519.73 1/1 99 80 0 80 1.0 intergenic rs63332362 IL20RB AU 0.656749 0.9058 0.6136 0.91 Uncertain 3_136739406_C->G 3 136739406 136739406 C G snp 2500.77 1/1 99 92 0 92 1.0 intergenic rs1385306 IL20RB AU 0.674121 0.9058 0.583886 0.6259 0.9128 Uncertain 3_137781923_A->C 3 137781923 137781923 A C snp 298.78 1/1 24 9 0 9 1.0 intronic rs329388 DZIP1L AU NM_173543 exon1 c.162+104A>C 0.609026 0.6319 Uncertain 3_137783700_T->C 3 137783700 137783700 T C snp 134.77 0/1 99 17 11 6 0.35 intronic rs179282 DZIP1L AU NM_173543 exon2 c.1952+91T>C 0.53115 0.6181 Uncertain 3_137786442_T->C 3 137786442 137786442 T C snp 1281.77 0/1 99 110 53 57 0.52 exonic rs442800 DZIP1L AU nonsynonymous SNV NM_173543 exon14 c.A1933G p.K645E 0.553115 0.6141 0.593342 0.6457 0.6472 0.42 T 0.0 P -0.997 T 0.0 T 0.0 T Pathogenic 3_137786696_G->A 3 137786696 137786696 G A snp 101.28 1/1 9 4 0 4 1.0 intronic rs3856632 DZIP1L AU NM_173543 exon3 c.4885+154G>A 0.128195 0.0119 Uncertain 3_137787047_C->T 3 137787047 137787047 C T snp 1090.77 1/1 84 39 1 38 0.97 exonic rs374045 DZIP1L AU nonsynonymous SNV NM_173543 exon13 c.G1778A p.R593H 0.628794 0.626 0.723743 0.7718 0.6583 0.3 T 0.0 P -1.022 T 0.033 T 0.007 T Pathogenic 3_137787192_T->C 3 137787192 137787192 T C snp 3020.77 1/1 99 118 0 118 1.0 exonic rs446644 DZIP1L AU nonsynonymous SNV NM_173543 exon13 c.A1633G p.T545A 0.628794 0.626 0.724127 0.7717 0.6580 0.7 T 0.0 P -0.995 T 0.039 T 0.011 T Pathogenic 3_137787282_T->C 3 137787282 137787282 T C snp 1920.77 1/1 99 69 0 69 1.0 intronic rs419075 DZIP1L AU NM_173543 exon4 c.5552+73T>C 0.695487 0.626 Uncertain 3_137787355_T->C 3 137787355 137787355 T C snp 438.77 1/1 33 14 0 14 1.0 intronic rs446847 DZIP1L AU NM_173543 exon4 c.5552+146T>C 0.988618 1 Uncertain 3_137787935_G->A 3 137787935 137787935 G A snp 749.77 1/1 54 27 0 27 1.0 UTR3 rs382629 DZIP1L AU 0.774161 0.626 0.863338 Uncertain 3_137787963_T->G 3 137787963 137787963 T G snp 767.77 1/1 54 32 0 32 1.0 UTR3 rs445025 DZIP1L AU 0.629193 0.626 0.738502 0.7700 0.6779 Uncertain 3_137788123_T->G 3 137788123 137788123 T G snp 137.03 1/1 12 5 0 5 1.0 intronic rs425938 DZIP1L AU NM_001170538 exon1 c.5+117T>G 0.695687 0.626 Uncertain 3_137788141_T->A 3 137788141 137788141 T A snp 46.77 0/1 33 3 1 2 0.67 intronic rs407009 DZIP1L AU NM_001170538 exon1 c.5+135T>A 0.532149 0.6141 Uncertain 3_137799291_A->T 3 137799291 137799291 A T snp 402.77 0/1 99 36 20 16 0.44 intronic rs384828 DZIP1L AU NM_001170538 exon4 c.11407-117A>T 0.613818 0.6141 Uncertain 3_137799498_T->C 3 137799498 137799498 T C snp 288.77 0/1 99 23 12 11 0.48 intronic rs405602 DZIP1L AU NM_001170538 exon4 c.11461+36T>C 0.613419 0.6141 0.653621 0.6631 0.6475 Uncertain 3_137800656_A->G 3 137800656 137800656 A G snp 534.77 0/1 99 41 19 22 0.54 intronic rs2622711 DZIP1L AU NM_001170538 exon5 c.12605+50A>G 0.613219 0.6121 0.653852 0.6632 0.6465 Uncertain 3_137807259_G->A 3 137807259 137807259 G A snp 465.77 0/1 99 35 15 20 0.57 exonic rs2724693 DZIP1L AU nonsynonymous SNV NM_173543 exon6 c.C961T p.R321W 0.536941 0.6131 0.569045 0.6386 0.6465 0.02 T 0.0 P -1.036 T 0.995 D 0.533 D Pathogenic 3_137816817_A->C 3 137816817 137816817 A C snp 641.77 0/1 99 50 25 25 0.5 intronic rs7629243 DZIP1L AU NM_001170538 exon11 c.28688+128A>C 0.539736 0.6131 Uncertain 3_137843018_G->C 3 137843018 137843018 G C snp 297.77 0/1 99 27 12 15 0.56 UTR3 rs1564496 A4GNT AU 0.710463 0.6389 Uncertain 3_137843106_T->C 3 137843106 137843106 T C snp 1009.77 0/1 99 91 44 47 0.52 exonic rs2170309 A4GNT AU synonymous SNV NM_016161 exon3 c.A1023G p.X341X 0.654153 0.6389 0.660695 0.6549 0.6690 Uncertain 3_137843476_G->T 3 137843476 137843476 G T snp 2129.77 0/1 99 198 107 91 0.46 exonic rs2246945 A4GNT AU nonsynonymous SNV NM_016161 exon3 c.C653A p.A218D 0.653754 0.6389 0.660541 0.6523 0.6666 0.82 T 0.0 P -0.956 T 0.0 T 0.002 T Pathogenic 3_137850003_A->G 3 137850003 137850003 A G snp 2316.77 0/1 99 188 91 97 0.52 exonic rs2724691 A4GNT AU synonymous SNV NM_016161 exon2 c.T96C p.C32C 0.614018 0.5476 0.646010 0.6387 0.5902 Uncertain 3_137880695_A->G 3 137880695 137880695 A G snp 692.77 0/1 99 53 26 27 0.51 UTR3 rs9851548 DBR1 AU 0.583267 0.5526 0.582974 0.6494 0.5935 Uncertain 3_137880743_G->A 3 137880743 137880743 G A snp 1754.77 0/1 99 149 79 70 0.47 exonic rs2622736 DBR1 AU synonymous SNV NM_016216 exon8 c.C1623T p.D541D 0.583267 0.5526 0.621021 0.6300 0.5740 Uncertain 3_137881265_T->A 3 137881265 137881265 T A snp 2674.77 0/1 99 249 136 113 0.45 exonic rs3732839 DBR1 AU synonymous SNV NM_016216 exon8 c.A1101T p.T367T 0.693291 0.5526 0.726434 0.6801 0.5929 Uncertain 3_137882377_G->T 3 137882377 137882377 G T snp 180.77 0/1 99 13 7 6 0.46 intronic rs2622734 DBR1 AU NM_016216 exon2 c.1606+41G>T 0.682109 0.5456 0.723225 0.6683 0.5792 Uncertain 3_137882752_A->G 3 137882752 137882752 A G snp 960.77 0/1 99 93 54 39 0.42 intronic rs2622733 DBR1 AU NM_016216 exon3 c.1970+52A>G 0.582268 0.5456 0.614549 0.6475 0.5969 Uncertain 3_137906222_C->T 3 137906222 137906222 C T snp 499.77 0/1 99 44 25 19 0.43 UTR5 ARMC8 AU Uncertain 3_137906532_A->G 3 137906532 137906532 A G snp 684.77 0/1 99 81 51 30 0.37 intronic rs13095374 ARMC8 AU NM_001267041 exon1 c.45+91A>G 0.0235623 0.002 Uncertain 3_137958438_C->T 3 137958438 137958438 C T snp 49.77 0/1 78 8 4 4 0.5 intronic rs6778511 ARMC8 AU NM_001282342 exon8 c.17599+68C>T 0.658147 0.7837 0.586581 Uncertain 3_137982718_T->G 3 137982718 137982718 T G snp 1194.77 0/1 99 99 50 49 0.49 intronic rs939453 ARMC8 AU NM_001282342 exon11 c.41892+55T>G 0.540136 0.8234 0.476128 Uncertain 3_138020275_A->G 3 138020275 138020275 A G snp 370.77 0/1 99 25 11 14 0.56 intronic rs7637162 NME9 AU NM_178130 exon2 c.40967-2073A>G 0.838259 0.877 Uncertain 3_138020677_C->T 3 138020677 138020677 C T snp 1188.77 1/1 87 32 0 32 1.0 intronic rs6801411 NME9 AU NM_178130 exon2 c.40967-1671C>T 0.987819 1 Uncertain 3_138025136_T->G 3 138025136 138025136 T G snp 378.77 0/1 99 34 22 12 0.35 intronic rs3856636 NME9 AU NM_178130 exon5 c.43858-103T>G 0.78115 0.8482 Uncertain 3_138025396_A->G 3 138025396 138025396 A G snp 326.77 0/1 99 32 19 13 0.41 intronic rs9846480 NME9 AU NM_178130 exon5 c.43941+74A>G 0.553914 0.8244 Uncertain 3_138033181_C->T 3 138033181 138033181 C T snp 2135.77 0/1 99 188 89 99 0.53 exonic rs9289556 NME9 AU synonymous SNV NM_178130 exon7 c.G270A p.E90E 0.702077 0.8036 0.666923 0.7142 0.8179 0.991 P -1.030 T Likely benign 3_138091701_G->T 3 138091701 138091701 G T snp 466.77 1/1 36 13 0 13 1.0 intronic rs1199333 MRAS AU 0.884185 0.9673 0.842611 0.8317 0.9692 Uncertain 3_138117564_A->G 3 138117564 138117564 A G snp 102.77 0/1 99 18 11 7 0.39 intronic rs13083299 MRAS AU NM_001252090 exon4 c.25685+154A>G 0.0794728 0.0258 Uncertain 3_138121198_C->T 3 138121198 138121198 C T snp 114.77 0/1 99 7 3 4 0.57 UTR3 rs2279241 MRAS AU 0.0786741 0.0258 Uncertain 3_138154114_G->C 3 138154114 138154114 G C snp 142.77 0/1 99 10 5 5 0.5 intronic rs940234 ESYT3 AU NM_031913 exon1 c.327+147G>C 0.251997 0.4008 Uncertain 3_138170684_G->A 3 138170684 138170684 G A snp 124.03 1/1 12 4 0 4 1.0 intronic rs774016 ESYT3 AU NM_031913 exon2 c.17249-205G>A 0.987819 0.999 Uncertain 3_138170788_T->G 3 138170788 138170788 T G snp 1306.77 0/1 99 122 65 57 0.47 intronic rs13095961 ESYT3 AU NM_031913 exon2 c.17249-101T>G 0.582268 0.7014 Uncertain 3_138170961_C->G 3 138170961 138170961 C G snp 2031.77 0/1 99 172 85 87 0.51 intronic rs811794 ESYT3 AU NM_031913 exon2 c.17291+30C>G 0.26278 0.3899 0.175534 0.1052 0.3622 Uncertain 3_138187092_A->G 3 138187092 138187092 A G snp 1123.77 0/1 99 89 45 44 0.49 intronic rs12635490 ESYT3 AU NM_031913 exon12 c.33396+56A>G 0.147764 0.3978 0.052343 Uncertain 3_138187568_C->T 3 138187568 138187568 C T snp 1799.77 0/1 99 188 111 77 0.41 intronic rs1679167 ESYT3 AU NM_031913 exon13 c.33919+9C>T 0.64357 0.9405 0.522989 0.6154 0.9507 Uncertain 3_138188485_C->T 3 138188485 138188485 C T snp 152.77 0/1 99 12 6 6 0.5 intronic rs13316499 ESYT3 AU NM_031913 exon15 c.34706+139C>T 0.0796725 0.001 Uncertain 3_138189031_T->C 3 138189031 138189031 T C snp 1169.77 1/1 84 40 0 40 1.0 intronic rs2347469 ESYT3 AU NM_031913 exon16 c.35348+43T>C 0.788538 0.9425 0.749584 0.7731 0.9516 Uncertain 3_138189658_A->G 3 138189658 138189658 A G snp 1100.77 0/1 99 73 32 41 0.56 intronic rs3813264 ESYT3 AU NM_031913 exon17 c.36078-60A>G 0.565695 0.5476 Uncertain 3_138191448_A->T 3 138191448 138191448 A T snp 2855.77 0/1 99 250 140 110 0.44 exonic rs35537868 ESYT3 AU nonsynonymous SNV NM_031913 exon18 c.A1984T p.T662S 0.141973 0.3938 0.047563 0.0677 0.3611 0.82 T 1.000 P -0.944 T 0.002 T 0.001 T Pathogenic 3_138218994_T->C 3 138218994 138218994 T C snp 1859.77 0/1 99 164 79 85 0.52 exonic rs35340237 CEP70 AU nonsynonymous SNV NM_001288967 exon12 c.A1154G p.N385S 0.195487 0.3978 0.111410 0.0848 0.3661 1 T 0.0 P -0.960 T 0.001 T 0.004 T Pathogenic 3_138244400_C->T 3 138244400 138244400 C T snp 334.77 0/1 99 37 20 17 0.46 exonic rs9878436 CEP70 AU synonymous SNV NM_001288967 exon7 c.G420A p.T140T 0.307907 0.0585 0.429948 0.3683 0.0489 Uncertain 3_138251302_G->T 3 138251302 138251302 G T snp 145.77 0/1 99 24 15 9 0.38 intronic rs7643973 CEP70 AU NM_024491 exon11 c.37499-53G>T 0.306909 0.0585 Uncertain 3_138251448_GGTAT->- 3 138251448 138251452 GGTAT - indel 1380.73 0/1 99 48 25 23 0.48 intronic rs10549552 CEP70 AU NM_024491 exon11 c.37556+36_37556+40delGGTAT 0.404135 0.3612 0.0498 Uncertain 3_138256252_G->A 3 138256252 138256252 G A snp 688.77 1/1 51 21 0 21 1.0 intronic rs542010 CEP70 AU NM_024491 exon12 c.42333+63G>A 0.530751 0.4534 Uncertain 3_138289221_C->T 3 138289221 138289221 C T snp 1818.77 0/1 99 167 87 80 0.48 exonic rs1673607 CEP70 AU nonsynonymous SNV NM_001288965 exon5 c.G344A p.S115N 0.690695 0.9425 0.566769 0.6241 0.9511 0.83 T 0.0 P -1.016 T 0.0 T 0.0 T Pathogenic 3_138291569_T->C 3 138291569 138291569 T C snp 158.77 0/1 99 10 5 5 0.5 intronic rs12635904 CEP70 AU NM_024491 exon16 c.77844-131T>C 0.146965 0.3948 Uncertain 3_138329862_G->A 3 138329862 138329862 G A snp 1638.77 0/1 99 148 77 71 0.48 exonic rs811322 FAIM AU synonymous SNV NM_001033030 exon2 c.G63A p.P21P 0.70647 0.9802 0.570737 0.6504 0.9895 Uncertain 3_138341335_C->T 3 138341335 138341335 C T snp 38.77 0/1 67 6 4 2 0.33 intronic rs2305269 FAIM AU NM_001033032 exon3 c.988+77C>T 0.0850639 0.37 Uncertain 3_138348081_C->T 3 138348081 138348081 C T snp 618.77 0/1 99 58 30 28 0.48 intronic rs470678 FAIM AU NM_001033032 exon4 c.7728+83C>T 0.420327 0.4633 Uncertain 3_138376532_C->T 3 138376532 138376532 C T snp 979.77 0/1 99 97 54 43 0.44 exonic rs374353184 PIK3CB AU nonsynonymous SNV NM_006219 exon20 c.G2942A p.R981Q 1.648e-05 0 0.3 T 1.000 D -0.658 T 0.593 P 0.163 P Pathogenic 3_138403390_C->T 3 138403390 138403390 C T snp 216.84 1/1 18 6 0 6 1.0 intronic rs625468 PIK3CB AU NM_001256045 exon8 c.29236-76C>T 0.578674 0.9841 Uncertain 3_138417989_G->A 3 138417989 138417989 G A snp 497.77 1/1 39 14 0 14 1.0 intronic rs361080 PIK3CB AU NM_001256045 exon12 c.43707+52G>A 0.703275 0.9841 0.582171 0.6389 0.9905 Uncertain 3_138433568_C->T 3 138433568 138433568 C T snp 3714.77 1/1 99 143 0 143 1.0 intronic rs497900 PIK3CB AU NM_006219 exon16 c.59331+7C>T 0.701877 0.9841 0.560289 0.6224 0.9903 Uncertain 3_138453794_A->T 3 138453794 138453794 A T snp 174.9 1/1 15 5 0 5 1.0 intronic rs9857655 PIK3CB AU NM_006219 exon18 c.79416+148A>T Uncertain 3_138724757_C->G 3 138724757 138724757 C G snp 2216.77 0/1 99 199 103 96 0.48 exonic rs11924188 PRR23A AU synonymous SNV NM_001134659 exon1 c.G354C p.S118S 0.61222 0.6141 0.688568 0.7140 0.6471 Uncertain 3_138725156_G->A 3 138725156 138725156 G A snp 85.77 0/1 99 10 5 5 0.5 upstream rs79499878 PRR23A AU 0.0684904 0.3155 0.0266 0.3095 Uncertain 3_138739617_A->G 3 138739617 138739617 A G snp 99.28 1/1 9 4 0 4 1.0 UTR5 rs1720230 PRR23B AU 0.91853 0.9643 Uncertain 3_138882076_C->T 3 138882076 138882076 C T snp 300.77 0/1 99 36 23 13 0.36 intergenic rs9843067 BPESC1 AU 0.0692891 0.003 0.1116 0 Uncertain 3_138882086_G->A 3 138882086 138882086 G A snp 623.77 0/1 99 27 6 21 0.78 intergenic rs13097893 BPESC1 AU 0.271166 0.4087 0.3212 0.41 Uncertain 3_139065988_C->T 3 139065988 139065988 C T snp 1258.77 1/1 93 33 0 33 1.0 intronic rs1610195 MRPS22 AR NM_020191 exon2 c.3018+102C>T 0.674321 0.9117 Uncertain 3_139066902_A->T 3 139066902 139066902 A T snp 722.77 1/1 54 20 0 20 1.0 intronic rs10755092 MRPS22 AR NM_020191 exon3 c.4133-99A>T 0.675519 0.9117 Uncertain 3_139068008_T->A 3 139068008 139068008 T A snp 883.77 1/1 63 34 0 34 1.0 intronic rs11706615 MRPS22 AR NM_020191 exon3 c.4298+842T>A 0.67512 0.9107 Uncertain 3_139068277_G->A 3 139068277 139068277 G A snp 249.77 0/1 94 15 4 11 0.73 intronic rs10935321 MRPS22 AR NM_020191 exon4 c.6152-743G>A 0.258387 0.0427 Uncertain 3_139075644_C->A 3 139075644 139075644 C A snp 96.28 1/1 9 3 0 3 1.0 intronic rs9878548 MRPS22 AR NM_020191 exon8 c.12892-116C>A 0.670927 0.9107 Uncertain 3_139077415_C->T 3 139077415 139077415 C T snp 191.84 1/1 18 8 0 8 1.0 intronic rs1844977 COPB2 AU NM_004766 exon3 c.881-170C>T 0.924121 0.9683 Uncertain 3_139087235_G->A 3 139087235 139087235 G A snp 148.77 0/1 99 13 6 7 0.54 intronic rs9289574 COPB2 AU NM_004766 exon10 c.10426+105G>A 0.254593 0.0427 Uncertain 3_139088481_T->C 3 139088481 139088481 T C snp 195.77 0/1 99 13 4 9 0.69 intronic rs11717119 COPB2 AU NM_004766 exon12 c.11682+95T>C 0.254593 0.0427 Uncertain 3_139090736_G->A 3 139090736 139090736 G A snp 607.77 0/1 99 73 46 27 0.37 intronic rs7373116 COPB2 AU NM_004766 exon13 c.13971+61G>A 0.254393 0.0427 Uncertain 3_139098357_A->C 3 139098357 139098357 A C snp 298.77 0/1 99 19 7 12 0.63 intronic rs9831108 COPB2 AU NM_004766 exon20 c.21604+49A>C 0.39996 0.869 0.223231 0.3315 0.8602 Uncertain 3_139102120_C->A 3 139102120 139102120 C A snp 4656.77 1/1 99 167 1 166 0.99 intronic rs7373302 COPB2 AU NM_004766 exon21 c.25435-19C>A 0.738818 0.9435 0.717823 0.8348 0.9352 Uncertain 3_139108250_-->TG 3 139108250 139108250 - TG indel 1071.73 1/1 60 20 0 20 1.0 intronic rs3215032 COPB2 AU NM_004766 exon22 c.31685-139insTG 0.739617 0.9435 Uncertain 3_139195177_C->T 3 139195177 139195177 C T snp 487.77 0/1 99 46 23 23 0.5 ncRNA_intronic rs2233815 LOC100507291 AU 0.399561 0.87 0.227282 Uncertain 3_139236683_C->T 3 139236683 139236683 C T snp 702.77 0/1 99 63 37 26 0.41 ncRNA_intronic rs2071388 LOC100507291 AU 0.328874 0.0754 Uncertain 3_139246382_A->G 3 139246382 139246382 A G snp 536.77 1/1 39 20 0 20 1.0 ncRNA_intronic rs295493 LOC100507291 AU 0.570487 0.8294 Uncertain 3_139257603_A->G 3 139257603 139257603 A G snp 1399.77 0/1 99 128 66 62 0.48 ncRNA_intronic rs2071387 LOC100507291 AU 0.290535 0.2153 0.269337 0.2351 0.2296 Uncertain 3_139258411_G->A 3 139258411 139258411 G A snp 1643.77 0/1 99 161 85 76 0.47 exonic rs11549984 RBP1 AU synonymous SNV NM_002899 exon1 c.C150T p.R50R 0.0860623 0.0843 0.096385 0.1500 0.1165 Uncertain 3_139280328_-->A 3 139280328 139280328 - A indel 1022.73 1/1 75 26 0 26 1.0 ncRNA_intronic rs35898558 LOC100507291 AU 0.861821 0.9851 Uncertain 3_139297655_A->G 3 139297655 139297655 A G snp 277.77 0/1 99 38 25 13 0.34 ncRNA_intronic rs10513083 LOC100507291 AU 0.430511 0.5823 Uncertain 3_139318241_A->T 3 139318241 139318241 A T snp 1387.77 0/1 99 115 58 57 0.5 intronic rs1846021 NMNAT3 AU NM_178177 exon3 c.18046+20344A>T 0.347244 0.3919 0.5953 0.3106 0 D 0.0 P -1.009 T Uncertain 3_139346684_C->G 3 139346684 139346684 C G snp 144.77 0/1 99 10 5 5 0.5 intronic rs62273066 NMNAT3 AU NM_001200047 exon2 c.66755+78C>G 0.306909 0.3522 Uncertain 3_139894697_T->C 3 139894697 139894697 T C snp 568.77 0/1 99 38 15 23 0.61 intronic rs4305391 CLSTN2 AU NM_022131 exon2 c.240576-95T>C 0.28754 0.1022 Uncertain 3_140140213_A->T 3 140140213 140140213 A T snp 54.74 1/1 6 2 0 2 1.0 intronic rs7643984 CLSTN2 AU NM_022131 exon5 c.485900+97A>T 0.620807 0.6548 Uncertain 3_140167536_A->G 3 140167536 140167536 A G snp 1056.77 0/1 99 114 70 44 0.39 exonic rs2081803 CLSTN2 AU synonymous SNV NM_022131 exon6 c.A963G p.Q321Q 0.847244 0.6528 0.897970 0.8504 0.6685 Uncertain 3_140178485_G->A 3 140178485 140178485 G A snp 2787.77 0/1 99 217 106 111 0.51 exonic rs7632885 CLSTN2 AU nonsynonymous SNV NM_022131 exon7 c.G1096A p.V366I 0.532348 0.502 0.599031 0.5648 0.5071 0.67 T 0.000 P -0.915 T 0.0 T 0.001 T Pathogenic 3_140178639_CCT->- 3 140178639 140178641 CCT - indel 2445.73 0/1 99 127 63 64 0.5 intronic rs10590825 CLSTN2 AU NM_022131 exon7 c.524395+28_524395+30delCCT 0.493011 0.494 0.567077 0.5541 0.4976 Uncertain 3_140185248_T->C 3 140185248 140185248 T C snp 93.28 1/1 9 3 0 3 1.0 intronic rs534395 CLSTN2 AU NM_022131 exon8 c.531235-203T>C 0.61881 0.5357 Uncertain 3_140251501_A->G 3 140251501 140251501 A G snp 77.77 0/1 28 4 1 3 0.75 intronic rs10513119 CLSTN2 AU NM_022131 exon9 c.597112+173A>G 0.0870607 0.126 Uncertain 3_140401693_A->G 3 140401693 140401693 A G snp 6300.77 1/1 99 202 0 202 1.0 exonic rs698673 TRIM42 AU nonsynonymous SNV NM_152616 exon2 c.A731G p.K244R 0.999201 1 0.999231 0.9993 1 0.94 T 0.0 P -0.964 T 0.0 T 0.0 T Pathogenic 3_140692486_G->T 3 140692486 140692486 G T snp 141.03 1/1 12 5 0 5 1.0 intronic rs2555707 SLC25A36 AU NM_018155 exon6 c.31661-71G>T 0.719449 0.7917 Uncertain 3_140784929_T->C 3 140784929 140784929 T C snp 34.77 0/1 63 10 8 2 0.2 UTR5 rs6771494 SPSB4 AU 0.451677 0.3879 0.270249 0.3948 0.3851 Uncertain 3_140785175_C->A 3 140785175 140785175 C A snp 1360.77 0/1 99 152 92 60 0.39 exonic rs890529 SPSB4 AU synonymous SNV NM_080862 exon2 c.C229A p.R77R 0.429313 0.3571 0.354310 0.4049 0.4908 Uncertain 3_140979184_T->C 3 140979184 140979184 T C snp 298.78 1/1 24 8 0 8 1.0 intronic rs1511378 PXYLP1 AU NM_001037172 exon2 c.79+88T>C 0.76258 0.6885 Uncertain 3_140993711_T->C 3 140993711 140993711 T C snp 84.28 1/1 9 3 0 3 1.0 intronic rs11715472 PXYLP1 AU NM_001037172 exon3 c.18166-3472T>C 0.876597 0.8026 Uncertain 3_140997024_C->T 3 140997024 140997024 C T snp 106.77 0/1 99 7 3 4 0.57 intronic rs12488569 PXYLP1 AU NM_001037172 exon3 c.18166-159C>T 0.400958 0.3829 Uncertain 3_140997031_T->C 3 140997031 140997031 T C snp 499.77 1/1 39 13 0 13 1.0 intronic rs6792660 PXYLP1 AU NM_001037172 exon3 c.18166-152T>C 0.768171 0.7292 Uncertain 3_140998113_C->T 3 140998113 140998113 C T snp 556.77 0/1 99 31 8 23 0.74 intronic rs75586664 PXYLP1 AU NM_001037172 exon4 c.19202-106C>T 0.0848642 0.129 Uncertain 3_140998214_G->A 3 140998214 140998214 G A snp 932.77 0/1 99 108 62 46 0.43 splicing rs13087169 PXYLP1 AU NM_001037172 exon4 c.19202-5G>A 0.567093 0.5357 0.572736 0.6234 0.5209 Pathogenic 3_141011630_C->T 3 141011630 141011630 C T snp 2117.77 0/1 99 183 89 94 0.51 exonic rs3210458 PXYLP1 AU synonymous SNV NM_001037172 exon6 c.C1026T p.F342F 0.10004 0.1151 0.084115 0.0848 0.1011 Uncertain 3_141145046_C->G 3 141145046 141145046 C G snp 915.77 0/1 99 69 34 35 0.51 intronic rs16851423 ZBTB38 AU 0.0509185 0.0496 0.0297 0.0379 Uncertain 3_141162128_C->G 3 141162128 141162128 C G snp 5269.77 1/1 99 202 0 202 1.0 exonic rs62282002 ZBTB38 AU nonsynonymous SNV NM_001080412 exon8 c.C898G p.P300A 0.111222 0.2192 0.066833 0.1153 0.2556 0.0 P -0.911 T 0.104 T 0.058 T ID=CM1213208;DIS=Adult height, association with;TAG=DP;PUB=21959382 DP Pathogenic 3_141162185_T->G 3 141162185 141162185 T G snp 3884.77 1/1 99 133 0 133 1.0 exonic rs16851435 ZBTB38 AU nonsynonymous SNV NM_001080412 exon8 c.T955G p.S319A 0.169129 0.3095 0.102577 0.1489 0.3321 0.0 P -0.904 T 0.018 T 0.015 T ID=CM139739;DIS=Idiopathic short stature, reduced risk;TAG=DP;PUB=23302005 DP Pathogenic 3_141235490_A->G 3 141235490 141235490 A G snp 46.77 0/1 33 3 1 2 0.67 intronic rs74615449 RASA2 AU NM_001303245 exon3 c.29348+217A>G 0.0201677 0.0883 Uncertain 3_141289944_C->G 3 141289944 141289944 C G snp 89.77 0/1 99 14 10 4 0.29 intronic rs201626730 RASA2 AU NM_001303245 exon10 c.83985+34C>G 0.000399361 0.002 0.0001 0.0018 Uncertain 3_141295778_T->A 3 141295778 141295778 T A snp 1518.77 1/1 99 52 1 51 0.98 intronic rs3732869 RASA2 AU NM_001303245 exon15 c.89916-63T>A 0.172923 0.2133 Uncertain 3_141326602_T->C 3 141326602 141326602 T C snp 697.77 1/1 51 28 0 28 1.0 exonic rs295322 RASA2 AU synonymous SNV NM_006506 exon20 c.T2016C p.N672N 0.173323 0.2133 0.114032 0.1398 0.2784 Uncertain 3_141327474_G->A 3 141327474 141327474 G A snp 6064.77 1/1 99 228 0 228 1.0 exonic rs295323 RASA2 AU synonymous SNV NM_006506 exon21 c.G2160A p.L720L 0.450479 0.2937 0.484315 0.3965 0.3198 Uncertain 3_141328918_T->G 3 141328918 141328918 T G snp 605.77 1/1 45 17 0 17 1.0 intronic rs295324 RASA2 AU NM_001303245 exon23 c.122983+10T>G 0.105831 0.2133 0.048901 0.1018 0.2491 Uncertain 3_141331222_G->A 3 141331222 141331222 G A snp 401.77 1/1 30 15 0 15 1.0 UTR3 rs2172471 RASA2 AU 0.449481 0.2937 0.473151 Uncertain 3_141497168_C->T 3 141497168 141497168 C T snp 1433.77 0/1 99 87 30 57 0.66 exonic rs55712018 GRK7 AU synonymous SNV NM_139209 exon1 c.C42T p.T14T 0.0311502 0.0843 0.005538 0.0208 0.0900 Uncertain 3_141497469_A->T 3 141497469 141497469 A T snp 2184.77 0/1 99 174 82 92 0.53 exonic rs34769632 GRK7 AU nonsynonymous SNV NM_139209 exon1 c.A343T p.S115C 0.0309505 0.0843 0.005460 0.0200 0.0897 0.05 T 1 N -0.925 T 0.231 T 0.035 T ID=COSM329386;OCCURENCE=1(haematopoietic_and_lymphoid_tissue) Pathogenic 3_141595527_C->G 3 141595527 141595527 C G snp 601.77 0/1 99 25 7 18 0.72 UTR5 rs11539489 ATP1B3 AU 0.0810703 0.1438 Uncertain 3_141621076_G->- 3 141621076 141621076 G - indel 1207.73 0/1 99 108 55 53 0.49 intronic rs397844069 ATP1B3 AU NM_001679 exon2 c.26818-1385delG 0.0890575 0.1438 0.1057 0.1162 Uncertain 3_141622695_G->A 3 141622695 141622695 G A snp 264.77 0/1 99 17 7 10 0.59 intronic rs11710245 ATP1B3 AU NM_001679 exon2 c.26947+105G>A 0.0886581 0.1438 Uncertain 3_141625884_T->C 3 141625884 141625884 T C snp 185.77 0/1 99 15 8 7 0.47 intronic rs189885918 ATP1B3 AU NM_001679 exon3 c.30365-124T>C 0.00139776 0.006 Uncertain 3_141625999_G->C 3 141625999 141625999 G C snp 1461.77 1/1 99 59 0 59 1.0 intronic rs7622417 ATP1B3 AU NM_001679 exon3 c.30365-9G>C 0.573682 0.5685 0.604413 0.5263 0.5893 Uncertain 3_141626123_A->G 3 141626123 141626123 A G snp 283.77 0/1 99 39 24 15 0.38 intronic rs3792411 ATP1B3 AU NM_001679 exon3 c.30473+7A>G 0.0886581 0.1438 0.108027 0.1308 0.1586 Uncertain 3_141632797_G->T 3 141632797 141632797 G T snp 167.77 0/1 99 17 11 6 0.35 intronic rs2288636 ATP1B3 AU NM_001679 exon4 c.37035+119G>T 0.0798722 0.1468 Uncertain 3_141632816_A->G 3 141632816 141632816 A G snp 105.77 0/1 99 14 9 5 0.36 intronic rs2288635 ATP1B3 AU NM_001679 exon4 c.37035+138A>G 0.0798722 0.1468 Uncertain 3_141632822_A->G 3 141632822 141632822 A G snp 61.77 0/1 90 10 6 4 0.4 intronic rs2288634 ATP1B3 AU NM_001679 exon4 c.37035+144A>G 0.0798722 0.1468 Uncertain 3_141641015_C->G 3 141641015 141641015 C G snp 1013.77 0/1 99 82 33 49 0.6 intronic rs3765155 ATP1B3 AU NM_001679 exon6 c.45262+110C>G 0.496006 0.6677 Uncertain 3_141644274_G->C 3 141644274 141644274 G C snp 304.77 0/1 99 19 8 11 0.58 intronic rs1131029 ATP1B3 AU NM_001679 exon7 c.48729-98G>C 0.798722 0.7073 Uncertain 3_141678347_A->T 3 141678347 141678347 A T snp 114.77 0/1 99 8 4 4 0.5 intronic rs6440054 TFDP2 AU NM_001178138 exon3 c.7161-168A>T 0.873003 0.7956 Uncertain 3_141682825_C->G 3 141682825 141682825 C G snp 355.77 0/1 99 45 27 18 0.4 intronic rs3792409 TFDP2 AU NM_001178138 exon4 c.11451+20C>G 0.238419 0.256 0.256371 0.2434 0.2527 Uncertain 3_141709036_C->T 3 141709036 141709036 C T snp 235.77 0/1 99 21 10 11 0.52 intronic rs62283132 TFDP2 AU NM_001178138 exon8 c.41025-3343C>T 0.129393 0.2063 Uncertain 3_141709083_A->G 3 141709083 141709083 A G snp 638.77 1/1 48 24 0 24 1.0 intronic rs6440055 TFDP2 AU NM_001178138 exon8 c.41025-3296A>G 0.950479 0.995 Uncertain 3_141721762_G->C 3 141721762 141721762 G C snp 174.9 1/1 15 5 0 5 1.0 intronic rs34464850 TFDP2 AU NM_001178138 exon10 c.52928-2520G>C 0.120407 0.2044 Uncertain 3_141812759_G->A 3 141812759 141812759 G A snp 396.77 0/1 99 56 35 21 0.38 intronic rs9877817 TFDP2 AU NM_001178138 exon12 c.140615+790G>A 0.765775 0.7292 0.733171 0.7614 0.7481 Uncertain 3_141884300_T->- 3 141884300 141884300 T - indel 547.73 0/1 99 37 18 19 0.51 UTR3 rs397812034 GK5 AU 0.0838658 0.121 Uncertain 3_141889009_T->G 3 141889009 141889009 T G snp 1653.77 0/1 99 157 84 73 0.46 intronic rs13067957 GK5 AU NM_001039547 exon2 c.4703-157T>G 0.0922524 0.122 0.1027 0.1069 Uncertain 3_141889382_A->G 3 141889382 141889382 A G snp 214.77 0/1 58 10 3 7 0.7 intronic rs79281773 GK5 AU NM_001039547 exon2 c.4837+82A>G 0.053115 0.0258 Uncertain 3_141900367_G->A 3 141900367 141900367 G A snp 3366.77 0/1 99 250 108 142 0.57 exonic rs9866012 GK5 AU synonymous SNV NM_001039547 exon11 c.C984T p.V328V 0.076877 0.0238 0.051976 0.0408 0.0405 Uncertain 3_141904474_C->T 3 141904474 141904474 C T snp 83.77 0/1 28 4 1 3 0.75 intronic rs6785098 GK5 AU NM_001039547 exon8 c.20307-296C>T 0.486022 0.1726 Uncertain 3_141904977_G->A 3 141904977 141904977 G A snp 1168.77 0/1 99 123 72 51 0.41 intronic rs6440065 GK5 AU NM_001039547 exon9 c.20572-58G>A 0.486022 0.1716 0.515112 Uncertain 3_141905278_A->- 3 141905278 141905278 A - indel 106.73 0/1 99 27 20 7 0.26 intronic rs142154007 GK5 AU NM_001039547 exon10 c.20830-15delA 0.0778754 0.0238 0.059240 0.0684 0.0888 Uncertain 3_141923506_C->T 3 141923506 141923506 C T snp 846.77 1/1 63 32 0 32 1.0 intronic rs9830411 GK5 AU NM_001039547 exon13 c.39073-30C>T 0.592452 0.5308 0.682035 0.6362 0.5338 Uncertain 3_141932356_G->A 3 141932356 141932356 G A snp 6634.77 1/1 99 250 0 250 1.0 intronic rs6440072 GK5 AU NM_001039547 exon14 c.47904-11G>A 0.646565 0.5308 0.738505 0.6514 0.5350 Uncertain 3_142051147_T->C 3 142051147 142051147 T C snp 59.74 1/1 6 3 0 3 1.0 intronic rs4608715 XRN1 AU NM_019001 exon7 c.20864-69T>C 0.601438 0.4812 Uncertain 3_142076059_A->G 3 142076059 142076059 A G snp 400.77 1/1 33 11 0 11 1.0 intronic rs3816805 XRN1 AU NM_019001 exon12 c.45609+98A>G 0.601637 0.4812 Uncertain 3_142078759_C->T 3 142078759 142078759 C T snp 574.77 0/1 99 52 26 26 0.5 exonic rs73238159 XRN1 AU nonsynonymous SNV NM_001282857 exon30 c.G3409A p.D1137N 0.0832668 0.0952 0.104353 0.1108 0.0949 0.14 T 1.0 P -1.194 T 0.951 T 0.532 D Pathogenic 3_142094816_-->CACA 3 142094816 142094816 - CACA indel 692.73 0/1 99 67 27 40 0.6 intronic rs113527448 XRN1 AU NM_019001 exon18 c.64434+30insCACA 0.314696 0.3323 0.227033 0.2632 0.2637 Uncertain 3_142116151_A->G 3 142116151 142116151 A G snp 872.77 0/1 99 72 33 39 0.54 intronic rs2291363 XRN1 AU NM_019001 exon23 c.85818-19A>G 0.0852636 0.1002 0.106259 0.1165 0.0991 Uncertain 3_142122451_T->A 3 142122451 142122451 T A snp 488.77 0/1 99 43 21 22 0.51 intronic rs2306699 XRN1 AU NM_019001 exon25 c.92163-64T>A 0.365016 0.38 Uncertain 3_142123841_C->T 3 142123841 142123841 C T snp 1815.77 0/1 99 163 87 76 0.47 exonic rs2306700 XRN1 AU synonymous SNV NM_001282857 exon16 c.G1791A p.E597E 0.121605 0.1002 0.141550 0.1242 0.0995 Uncertain 3_142133218_C->T 3 142133218 142133218 C T snp 35.77 0/1 64 7 5 2 0.29 intronic rs11714528 XRN1 AU NM_019001 exon29 c.102781+85C>T 0.105831 0.1002 Uncertain 3_142140511_T->G 3 142140511 142140511 T G snp 56.74 1/1 6 2 0 2 1.0 intronic rs11720762 XRN1 AU NM_019001 exon34 c.110033+126T>G 0.117212 0.1002 Uncertain 3_142168331_C->T 3 142168331 142168331 C T snp 5473.77 1/1 99 202 0 202 1.0 exonic rs1802904 ATR AR,AD synonymous SNV NM_001184 exon47 c.G7875A p.Q2625Q 0.916334 0.9266 0.897816 0.8646 0.9302 Uncertain 3_142178144_C->T 3 142178144 142178144 C T snp 2353.77 0/1 99 208 96 112 0.54 exonic rs2229032 ATR AR,AD nonsynonymous SNV NM_001184 exon43 c.G7274A p.R2425Q 0.102236 0.1012 0.134169 0.1328 0.1019 0.52 T 0.002 P -1.105 T 0.0 T 0.001 T CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_provided|not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter|criteria_provided\x2c_single_submitter;CLNACC=RCV000123787.1|RCV000145330.1;CLNDSDB=MedGen|MedGen;CLNDSDBID=CN221809|CN169374 Pathogenic 3_142215171_T->C 3 142215171 142215171 T C snp 91.77 0/1 99 8 4 4 0.5 intronic rs11719960 ATR AR,AD NM_001184 exon14 c.46932-31T>C 0.002625 0.0594 0.0536 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000145325.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 3_142215178_A->C 3 142215178 142215178 A C snp 429.77 1/1 33 11 0 11 1.0 intronic rs7620648 ATR AR,AD NM_001184 exon14 c.46932-24A>C 0.614024 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000145324.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 3_142222074_C->T 3 142222074 142222074 C T snp 56.74 1/1 6 2 0 2 1.0 intronic rs11916455 ATR AR,AD NM_001184 exon18 c.53933-129C>T 0.311701 0.3542 Uncertain 3_142222284_A->G 3 142222284 142222284 A G snp 542.77 0/1 99 53 27 26 0.49 exonic rs2227931 ATR AR,AD synonymous SNV NM_001184 exon30 c.T5208C p.Y1736Y 0.3125 0.3542 0.349569 0.3640 0.3579 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000145318.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 3_142255090_T->C 3 142255090 142255090 T C snp 110.77 0/1 99 11 5 6 0.55 intronic rs73240314 ATR AR,AD NM_001184 exon28 c.86773+47T>C 0.117212 0.1022 0.143961 0.1374 0.1022 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000145305.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 3_142259707_A->- 3 142259707 142259707 A - indel 283.73 0/1 99 23 7 16 0.7 intronic rs201551475 ATR AR,AD NM_001184 exon30 c.91475-38delA 0.4574 0.4507 Uncertain 3_142272275_-->AC 3 142272275 142272275 - AC indel 761.73 0/1 99 63 26 37 0.59 intronic rs142950892 ATR AR,AD NM_001184 exon35 c.103970+35insAC 0.314297 0.3056 0.3217 0.3010 Uncertain 3_142272314_G->A 3 142272314 142272314 G A snp 1467.77 1/1 99 40 0 40 1.0 intronic rs9869842 ATR AR,AD NM_001184 exon35 c.103970+74G>A 0.597843 0.4732 Uncertain 3_142277427_A->G 3 142277427 142277427 A G snp 2263.77 0/1 99 143 65 78 0.55 intronic rs73240318 ATR AR,AD NM_001184 exon40 c.109195-38A>G 0.11222 0.1012 0.140188 0.0745 0.0638 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000145293.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 3_142277536_A->G 3 142277536 142277536 A G snp 3729.77 0/1 99 250 112 138 0.55 exonic rs2227929 ATR AR,AD synonymous SNV NM_001184 exon8 c.T1815C p.D605D 0.310703 0.3552 0.345763 0.3516 0.3554 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_multiple_submitters\x2c_no_conflicts;CLNACC=RCV000145292.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 3_142277575_A->T 3 142277575 142277575 A T snp 7715.77 1/1 99 243 0 243 1.0 exonic rs2227930 ATR AR,AD synonymous SNV NM_001184 exon8 c.T1776A p.G592G 0.598043 0.4732 0.663002 0.5529 0.4642 Uncertain 3_142281612_A->G 3 142281612 142281612 A G snp 4911.77 1/1 99 168 0 168 1.0 exonic rs2227928 ATR AR,AD nonsynonymous SNV NM_001184 exon4 c.T632C p.M211T 0.597444 0.4732 0.662310 0.5540 0.4658 1 T 0.000 P -0.930 T 0.0 T 0.0 T Pathogenic 3_142388514_ATG->- 3 142388514 142388516 ATG - indel 387.75 1/1 24 12 0 12 1.0 intronic rs10537624 PLS1 AU NM_001145319 exon3 c.5316+119_5316+121delATG 0.552915 0.3919 Uncertain 3_142405348_T->C 3 142405348 142405348 T C snp 130.77 0/1 99 12 7 5 0.42 intronic rs11714087 PLS1 AU NM_001145319 exon9 c.22139+130T>C 0.0974441 0.0913 Uncertain 3_142408606_G->A 3 142408606 142408606 G A snp 1983.77 1/1 99 67 0 67 1.0 exonic rs6793735 PLS1 AU synonymous SNV NM_001145319 exon10 c.G1128A p.P376P 0.615815 0.3988 0.733200 0.5942 0.3710 Uncertain 3_142413407_C->T 3 142413407 142413407 C T snp 3683.77 1/1 99 136 2 134 0.99 intronic rs6789958 PLS1 AU NM_001145319 exon11 c.30310+18C>T 0.659545 0.5476 0.734046 0.6111 0.5439 Uncertain 3_142417070_G->A 3 142417070 142417070 G A snp 125.78 0/1 27 5 1 4 0.8 intronic rs3773504 PLS1 AU NM_001145319 exon12 c.33830+161G>A 0.404153 0.1895 Uncertain 3_142467310_C->T 3 142467310 142467310 C T snp 1346.77 0/1 99 128 68 60 0.47 intronic rs56246347 TRPC1 AU NM_003304 exon3 c.23901+8C>T 0.0892572 0.119 0.106336 0.1178 0.1284 Uncertain 3_142496419_A->G 3 142496419 142496419 A G snp 416.77 0/1 99 24 9 15 0.63 intronic TRPC1 AU NM_003304 exon4 c.53072-54A>G Uncertain 3_142503605_G->A 3 142503605 142503605 G A snp 5616.77 1/1 99 197 0 197 1.0 exonic rs7621642 TRPC1 AU synonymous SNV NM_003304 exon6 c.G918A p.S306S 0.397165 0.4077 0.364370 0.2572 0.4107 Uncertain 3_142513099_A->- 3 142513099 142513099 A - indel 1143.73 0/1 99 57 26 31 0.54 intronic rs140854870 TRPC1 AU NM_003304 exon8 c.68408+1290delA 0.0275559 0.0962 Uncertain 3_142522753_A->T 3 142522753 142522753 A T snp 308.77 0/1 99 18 7 11 0.61 intronic rs56239979 TRPC1 AU NM_003304 exon10 c.79417-65A>T 0.0892572 0.1181 Uncertain 3_142523349_G->A 3 142523349 142523349 G A snp 1462.77 0/1 99 170 102 68 0.4 exonic rs3821647 TRPC1 AU synonymous SNV NM_003304 exon11 c.G1929A p.T643T 0.194089 0.2391 0.192680 0.1796 0.2663 Uncertain 3_142523555_G->A 3 142523555 142523555 G A snp 152.77 0/1 99 13 7 6 0.46 intronic rs4259003 TRPC1 AU NM_003304 exon11 c.80071+83G>A 0.33127 0.256 Uncertain 3_142524858_G->A 3 142524858 142524858 G A snp 3083.77 1/1 99 116 0 116 1.0 exonic rs1132030 TRPC1 AU synonymous SNV NM_003304 exon12 c.G2061A p.R687R 0.365815 0.3552 0.339382 0.2313 0.3520 Uncertain 3_142537071_C->G 3 142537071 142537071 C G snp 846.77 1/1 63 27 0 27 1.0 UTR3 rs7772 PCOLCE2 AU 0.283546 0.375 Uncertain 3_142567327_G->A 3 142567327 142567327 G A snp 2005.77 0/1 99 222 130 92 0.41 intronic rs893883 PCOLCE2 AU NM_013363 exon7 c.30138+13G>A 0.527756 0.3304 0.647801 0.5927 0.3368 Uncertain 3_142607487_C->G 3 142607487 142607487 C G snp 438.77 1/1 33 13 0 13 1.0 intronic rs1457684 PCOLCE2 AU NM_013363 exon9 c.70479-168C>G 0.779153 0.7192 Uncertain 3_142607767_C->T 3 142607767 142607767 C T snp 474.77 0/1 99 45 23 22 0.49 UTR5 rs35783198 PCOLCE2 AU 0.108227 0.1478 0.101264 0.2531 0.2981 Uncertain 3_142669479_A->G 3 142669479 142669479 A G snp 1178.77 0/1 99 97 45 52 0.54 intergenic rs4683440 LOC100507389 AU 0.56889 0.3839 Uncertain 3_142670467_C->T 3 142670467 142670467 C T snp 253.77 0/1 99 25 14 11 0.44 intergenic rs2270767 LOC100507389 AU 0.465455 0.3472 Uncertain 3_142670616_A->G 3 142670616 142670616 A G snp 1972.77 0/1 99 163 79 84 0.52 intergenic rs2270768 LOC100507389 AU 0.174121 0.2619 0.1781 0.3387 Uncertain 3_142720348_G->A 3 142720348 142720348 G A snp 269.8 1/1 21 9 0 9 1.0 upstream;downstream rs766360 LOC100289361 AU 0.600439 0.6835 Uncertain 3_142720730_T->G 3 142720730 142720730 T G snp 307.78 1/1 24 8 0 8 1.0 intronic rs3902877 U2SURP AU NM_001080415 exon1 c.45+215T>G 0.719848 0.7222 Uncertain 3_142729433_T->C 3 142729433 142729433 T C snp 238.84 0/1 18 8 1 7 0.88 intronic rs2173599 U2SURP AU NM_001080415 exon2 c.9186-223T>C 0.301118 0.3254 Uncertain 3_142730774_T->G 3 142730774 142730774 T G snp 6425.77 1/1 99 243 0 243 1.0 intronic rs2124541 U2SURP AU NM_001080415 exon3 c.10593-289T>G 0.696885 0.7232 0.6401 0.7277 Uncertain 3_142740061_G->A 3 142740061 142740061 G A snp 117.77 0/1 63 7 3 4 0.57 intronic rs4683720 U2SURP AU NM_001080415 exon9 c.19721-130G>A 0.368411 0.3988 Uncertain 3_142752293_G->A 3 142752293 142752293 G A snp 319.78 1/1 24 12 0 12 1.0 intronic rs1449869 U2SURP AU NM_001080415 exon18 c.31722+101G>A 0.702875 0.7232 Uncertain 3_142773738_C->T 3 142773738 142773738 C T snp 989.77 1/1 72 37 0 37 1.0 intronic rs10935479 U2SURP AU NM_001080415 exon27 c.53314-46C>T 0.69389 0.7232 0.658725 0.6721 0.7800 Uncertain 3_142985890_T->A 3 142985890 142985890 T A snp 469.77 1/1 36 12 0 12 1.0 intronic rs12493372 SLC9A9 AU NM_173653 exon1 c.228+119T>A 0.328874 0.5327 Uncertain 3_143296430_G->T 3 143296430 143296430 G T snp 40.77 0/1 69 5 3 2 0.4 intronic rs147662668 SLC9A9 AU NM_173653 exon10 c.311883-996G>T 0.0071885 0.0327 Uncertain 3_143370967_A->G 3 143370967 143370967 A G snp 54.74 1/1 6 2 0 2 1.0 intronic rs1242070 SLC9A9 AU NM_173653 exon11 c.385553-129A>G 0.681909 0.6369 Uncertain 3_143513975_A->G 3 143513975 143513975 A G snp 197.77 0/1 99 24 15 9 0.38 intronic rs56969315 SLC9A9 AU NM_173653 exon13 c.528376+56A>G 0.288938 0.2956 0.241349 Uncertain 3_143515899_A->T 3 143515899 143515899 A T snp 191.77 0/1 99 17 9 8 0.47 intronic rs11718136 SLC9A9 AU NM_173653 exon14 c.530202+154A>T 0.167532 0.2401 Uncertain 3_143567207_A->G 3 143567207 143567207 A G snp 3255.77 1/1 99 106 0 106 1.0 UTR5 rs11714060 SLC9A9 AU 0.95008 1 0.941642 0.9714 1 Uncertain 3_143691766_A->C 3 143691766 143691766 A C snp 382.77 0/1 99 36 21 15 0.42 exonic rs575168243 C3orf58 AU nonsynonymous SNV NM_173552 exon1 c.A592C p.K198Q 0.000199681 0.001 0.0002 0.0021 0.24 T 1 D -1.072 T 0.978 D 0.549 D Pathogenic 3_143692018_C->G 3 143692018 143692018 C G snp 1796.77 0/1 99 150 74 76 0.51 intronic rs2279856 C3orf58 AU NM_173552 exon1 c.657+187C>G 0.455871 0.2579 0.3378 0.2961 Uncertain 3_145788467_T->C 3 145788467 145788467 T C snp 1825.77 1/1 99 65 0 65 1.0 UTR3 rs6710 PLOD2 AR 0.511182 0.5744 0.518387 0.5031 0.5864 Uncertain 3_145788803_T->C 3 145788803 145788803 T C snp 898.77 1/1 66 30 0 30 1.0 intronic rs2305274 PLOD2 AR NM_000935 exon2 c.325-25T>C 0.5 0.5744 0.506079 0.5065 0.5896 Uncertain 3_145790948_A->G 3 145790948 145790948 A G snp 314.78 1/1 24 12 0 12 1.0 intronic rs7639592 PLOD2 AR NM_000935 exon5 c.2570-125A>G 0.511981 0.5754 Uncertain 3_145794777_TTTA->- 3 145794777 145794780 TTTA - indel 397.8 1/1 18 6 0 6 1.0 intronic rs142623177 PLOD2 AR NM_000935 exon6 c.6179+95_6179+98delTTTA 0.507788 0.5744 Uncertain 3_145803138_T->C 3 145803138 145803138 T C snp 686.77 1/1 51 20 0 20 1.0 intronic rs1375583 PLOD2 AR NM_000935 exon9 c.14557+78T>C 0.505391 0.5764 0.5813 0.6804 Uncertain 3_145803142_T->A 3 145803142 145803142 T A snp 643.77 1/1 48 18 0 18 1.0 intronic rs1375582 PLOD2 AR NM_000935 exon9 c.14557+82T>A 0.513179 0.5764 0.5866 0.6768 0 D 0.0 P -0.984 T 0.0 T 0.0 T Uncertain 3_145804524_C->A 3 145804524 145804524 C A snp 59.74 1/1 6 3 0 3 1.0 intronic rs3804668 PLOD2 AR NM_000935 exon10 c.16070-49C>A 0.507388 0.5754 0.5016 0.5741 Uncertain 3_145809750_T->C 3 145809750 145809750 T C snp 1120.77 1/1 81 37 0 37 1.0 intronic rs3792341 PLOD2 AR NM_000935 exon12 c.21185+62T>C 0.511182 0.5754 Uncertain 3_145820684_G->A 3 145820684 145820684 G A snp 1047.77 1/1 75 37 0 37 1.0 intronic rs3762691 PLOD2 AR NM_000935 exon13 c.32136+45G>A 0.480431 0.5734 0.473223 0.4881 0.5912 Uncertain 3_145824478_A->G 3 145824478 145824478 A G snp 2970.77 1/1 99 106 0 106 1.0 intronic rs9289716 PLOD2 AR NM_000935 exon15 c.35928+47A>G 0.48103 0.5744 0.473858 0.4663 0.5846 Uncertain 3_145824504_G->A 3 145824504 145824504 G A snp 2299.77 1/1 99 74 0 74 1.0 intronic rs7614409 PLOD2 AR NM_000935 exon15 c.35928+73G>A 0.496206 0.5754 Uncertain 3_145827939_G->C 3 145827939 145827939 G C snp 393.77 1/1 30 10 0 10 1.0 intronic rs3804661 PLOD2 AR NM_000935 exon16 c.39568-132G>C 0.507188 0.5744 Uncertain 3_145828256_-->T 3 145828256 145828256 - T indel 4661.73 1/1 99 114 0 114 1.0 intronic rs3842573 PLOD2 AR NM_000935 exon16 c.39732+21insT 0.411741 0.5744 0.394838 0.4377 0.5833 Uncertain 3_145838895_C->T 3 145838895 145838895 C T snp 5678.77 1/1 99 208 0 208 1.0 splicing rs4681297 PLOD2 AR NM_000935 exon17 c.50395-3C>T 0.781749 0.8353 0.782562 0.7666 0.8429 Pathogenic 3_145841294_-->AAAC 3 145841294 145841294 - AAAC indel 1405.73 1/1 75 39 0 39 1.0 intronic rs10663012 PLOD2 AR NM_000935 exon18 c.53421-630insAAAC 0.505791 0.5734 Uncertain 3_145841854_T->C 3 145841854 145841854 T C snp 1073.77 1/1 78 41 1 40 0.98 intronic rs6802384 PLOD2 AR NM_000935 exon18 c.53421-70T>C 0.510982 0.5744 Uncertain 3_145924591_-->T 3 145924591 145924591 - T indel 187.73 0/1 99 17 10 7 0.41 intronic rs35080966 PLSCR4 AU NM_001128305 exon6 c.12351+43insT 0.404553 0.4692 0.372123 0.4421 0.4438 Uncertain 3_145938528_C->A 3 145938528 145938528 C A snp 352.77 0/1 99 22 8 14 0.64 intronic rs3762686 PLSCR4 AU NM_001128305 exon7 c.26404-73C>A 0.732628 0.6597 Uncertain 3_146113577_T->- 3 146113577 146113577 T - indel 908.73 0/1 99 65 36 29 0.45 intergenic rs11340803 PLSCR4 AU 0.580871 0.5982 Uncertain 3_146159764_T->A 3 146159764 146159764 T A snp 56.74 1/1 6 2 0 2 1.0 intronic rs4355250 PLSCR2 AU NM_001199979 exon2 c.30+156T>A 0.641573 0.626 Uncertain 3_146176075_C->T 3 146176075 146176075 C T snp 436.77 0/1 99 33 13 20 0.61 intronic rs12494007 PLSCR2 AU NM_001199979 exon6 c.16619-122C>T 0.526757 0.6032 Uncertain 3_146177815_C->T 3 146177815 146177815 C T snp 1089.77 0/1 99 116 68 48 0.41 exonic rs6806535 PLSCR2 AU synonymous SNV NM_001199979 exon2 c.G84A p.Q28Q 0.527556 0.6062 0.5865 0.6394 Uncertain 3_146303750_G->A 3 146303750 146303750 G A snp 427.77 0/1 99 23 7 16 0.7 intronic rs342902 PLSCR5 AU 0.710663 0.747 Uncertain 3_146307371_G->A 3 146307371 146307371 G A snp 1597.77 0/1 99 137 71 66 0.48 intronic rs343288 PLSCR5 AU NM_001085420 exon3 c.3579-68G>A 0.433906 0.5843 Uncertain 3_146307635_C->A 3 146307635 146307635 C A snp 751.77 0/1 99 51 26 25 0.49 intronic rs343289 PLSCR5 AU NM_001085420 exon3 c.3741+34C>A 0.714457 0.747 0.727304 0.7121 0.7360 Uncertain 3_147111779_T->C 3 147111779 147111779 T C snp 1453.77 0/1 99 159 92 67 0.42 intronic rs62273364 ZIC4 AU NM_032153 exon3 c.6993-1859T>C 0.39357 0.5198 0.4225 0.5253 Uncertain 3_147113586_A->T 3 147113586 147113586 A T snp 429.77 0/1 99 33 16 17 0.52 intronic rs73004638 ZIC4 AU NM_032153 exon3 c.6993-52A>T 0.183107 0.2381 Uncertain 3_147121751_C->T 3 147121751 147121751 C T snp 866.77 0/1 99 95 53 42 0.44 exonic rs6766244 ZIC4 AU synonymous SNV NM_001168378 exon1 c.G135A p.K45K 0.142572 0.0625 0.1714 0.0491 Uncertain 3_148459395_C->T 3 148459395 148459395 C T snp 6233.77 1/1 99 216 0 216 1.0 exonic rs5182 AGTR1 AR,AO synonymous SNV NM_031850 exon4 c.C678T p.L226L 0.458067 0.6865 0.381516 0.4837 0.7022 Uncertain 3_148552539_T->C 3 148552539 148552539 T C snp 93.28 1/1 9 3 0 3 1.0 intronic rs9830213 CPB1 AU NM_001871 exon3 c.6799+130T>C 0.964856 1 Uncertain 3_148558447_G->A 3 148558447 148558447 G A snp 689.77 0/1 99 56 32 24 0.43 intronic rs2291671 CPB1 AU NM_001871 exon4 c.12862-25G>A 0.263778 0.2817 0.240504 0.2277 0.2527 Uncertain 3_148562310_G->A 3 148562310 148562310 G A snp 1296.77 0/1 99 139 84 55 0.4 exonic rs1059502 CPB1 AU nonsynonymous SNV NM_001871 exon7 c.G622A p.D208N 0.270168 0.2956 0.240427 0.2290 0.2615 0.82 T 0.000 P -0.944 T 0.005 T 0.01 T Pathogenic 3_148562397_G->C 3 148562397 148562397 G C snp 1906.77 0/1 99 213 137 76 0.36 intronic rs13318851 CPB1 AU NM_001871 exon7 c.16765+22G>C 0.269968 0.2956 0.240157 0.2282 0.2614 Uncertain 3_148562399_G->A 3 148562399 148562399 G A snp 1993.77 0/1 99 217 137 80 0.37 intronic rs13318853 CPB1 AU NM_001871 exon7 c.16765+24G>A 0.269768 0.2956 0.240157 0.2281 0.2613 Uncertain 3_148562425_C->G 3 148562425 148562425 C G snp 3749.77 0/1 99 229 84 145 0.63 intronic rs9835098 CPB1 AU NM_001871 exon8 c.16853-38C>G 0.199281 0.249 0.209705 0.2135 0.2739 Uncertain 3_148562620_A->G 3 148562620 148562620 A G snp 1013.77 0/1 99 75 32 43 0.57 intronic rs9873003 CPB1 AU NM_001871 exon8 c.16944+66A>G 0.206869 0.248 Uncertain 3_148563493_G->A 3 148563493 148563493 G A snp 149.77 0/1 99 13 7 6 0.46 intronic rs3765131 CPB1 AU NM_001871 exon9 c.17803+80G>A 0.203674 0.246 Uncertain 3_148575156_C->T 3 148575156 148575156 C T snp 1721.77 1/1 99 50 0 50 1.0 intronic rs2331407 CPB1 AU NM_001871 exon10 c.29633-87C>T 0.45647 0.5169 Uncertain 3_148575441_C->T 3 148575441 148575441 C T snp 811.77 1/1 60 24 0 24 1.0 intronic rs1356259 CPB1 AU NM_001871 exon10 c.29718+113C>T 0.463658 0.5169 Uncertain 3_148575476_C->A 3 148575476 148575476 C A snp 83.77 0/1 65 6 3 3 0.5 intronic rs368147767 CPB1 AU NM_001871 exon10 c.29718+148C>A Uncertain 3_148597482_T->G 3 148597482 148597482 T G snp 341.77 0/1 99 20 7 13 0.65 intronic rs1032465 CPA3 AU NM_001870 exon6 c.14480-92T>G 0.525559 0.6081 Uncertain 3_148597612_C->T 3 148597612 148597612 C T snp 4593.77 1/1 99 167 0 167 1.0 exonic rs12489516 CPA3 AU nonsynonymous SNV NM_001870 exon6 c.C512T p.T171M 0.969249 0.9494 0.965093 0.9577 0.9484 0.55 T 0.000 P -0.949 T 0.0 T 0.0 T Pathogenic 3_148756825_G->A 3 148756825 148756825 G A snp 1805.77 1/1 99 62 0 62 1.0 intronic rs6764352 HLTF AU NM_003071 exon3 c.6829-10G>A 0.980232 1 0.979615 0.9754 0.9998 Uncertain 3_148786108_C->T 3 148786108 148786108 C T snp 652.77 0/1 99 80 50 30 0.38 exonic rs812249 HLTF AU synonymous SNV NM_003071 exon8 c.G909A p.T303T 0.742412 0.7113 0.752653 0.7161 0.7047 Uncertain 3_148868361_C->T 3 148868361 148868361 C T snp 349.77 0/1 99 34 21 13 0.38 intronic rs2689232 HPS3 AU NM_032383 exon6 c.20875-24C>T 0.186302 0.2748 0.164155 0.2140 0.2838 Uncertain 3_148872987_G->A 3 148872987 148872987 G A snp 893.77 0/1 99 97 54 43 0.44 exonic rs6440589 HPS3 AU synonymous SNV NM_032383 exon8 c.G1494A p.Q498Q 0.490216 0.3631 0.513917 0.4566 0.3695 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000150816.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 3_148878243_A->G 3 148878243 148878243 A G snp 34.77 0/1 63 7 5 2 0.29 intronic rs73166808 HPS3 AU NM_032383 exon11 c.30556+177A>G 0.155152 0.2738 Uncertain 3_148879878_A->G 3 148879878 148879878 A G snp 444.77 0/1 99 33 18 15 0.45 intronic rs61615092 HPS3 AU NM_032383 exon12 c.32424-56A>G 0.43131 0.3681 Uncertain 3_148881673_C->T 3 148881673 148881673 C T snp 370.77 0/1 99 33 17 16 0.48 exonic rs3732557 HPS3 AU synonymous SNV NM_032383 exon14 c.C2526T p.H842H 0.155351 0.2738 0.140615 0.1870 0.2843 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000150817.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 3_148885077_C->T 3 148885077 148885077 C T snp 382.77 0/1 99 23 9 14 0.61 intronic rs2681092 HPS3 AU NM_032383 exon15 c.37517+50C>T 0.479633 0.378 0.465629 0.4716 0.3954 Uncertain 3_148885779_-->T 3 148885779 148885779 - T indel 147.73 0/1 99 14 5 9 0.64 intronic rs11426099 HPS3 AU NM_032383 exon16 c.38260+9insT 0.391973 0.3522 0.393343 0.3305 0.3660 Uncertain 3_148885851_G->A 3 148885851 148885851 G A snp 134.03 1/1 12 4 0 4 1.0 intronic rs2681096 HPS3 AU NM_032383 exon16 c.38260+81G>A 0.990815 0.999 Uncertain 3_148896430_A->G 3 148896430 148896430 A G snp 1847.77 0/1 99 177 91 86 0.49 intronic rs16861582 CP AR NM_000096 exon4 c.4918+12A>G 0.342252 0.3611 0.326592 0.3330 0.4148 Uncertain 3_148897498_-->ACACACAC 3 148897498 148897498 - ACACACAC indel 553.73 0/1 99 31 6 25 0.81 intronic CP AR NM_000096 exon5 c.5949+49insACACACAC Uncertain 3_148916235_T->A 3 148916235 148916235 T A snp 5270.77 1/1 99 202 0 202 1.0 exonic rs701753 CP AR nonsynonymous SNV NM_000096 exon9 c.A1632T p.E544D 0.86222 0.999 0.855866 0.9165 0.9995 1 T 0.000 P -0.939 T ID=CM045288;DIS=Substantia nigra hyperechogenicity in Parkinsonism, association with;TAG=DFP;PUB=15557511 DFP Pathogenic 3_148925525_T->C 3 148925525 148925525 T C snp 297.78 1/1 24 8 0 8 1.0 intronic rs1523515 CP AR NM_000096 exon15 c.33904+121T>C 0.951078 0.999 Uncertain 3_148930096_T->A 3 148930096 148930096 T A snp 56.74 1/1 6 2 0 2 1.0 intronic rs34300334 CP AR NM_000096 exon18 c.38737-141T>A 0.142372 0.3413 Uncertain 3_148930218_G->A 3 148930218 148930218 G A snp 3634.77 1/1 99 127 0 127 1.0 intronic rs17847023 CP AR NM_000096 exon18 c.38737-19G>A 0.139377 0.3373 0.065047 0.1275 0.3872 Uncertain 3_148935893_A->G 3 148935893 148935893 A G snp 382.77 0/1 99 26 10 16 0.62 intronic rs16861636 CP AR NM_000096 exon19 c.47933-3540A>G 0.142372 0.3224 Uncertain 3_148939393_C->T 3 148939393 148939393 C T snp 549.77 0/1 99 42 21 21 0.5 intronic rs3736282 CP AR NM_000096 exon19 c.47933-40C>T 0.138179 0.2669 0.071870 0.1316 0.3023 Uncertain 3_149050925_T->C 3 149050925 149050925 T C snp 1000.77 0/1 99 71 34 37 0.52 intronic rs1526786 TM4SF18 AU NM_138786 exon5 c.11728-67T>C 0.566094 0.4881 Uncertain 3_149051269_-->TCTTTTT 3 149051269 149051269 - TCTTTTT indel 562.73 1/1 48 17 0 17 1.0 intronic rs4048749 TM4SF18 AU NM_001184723 exon5 c.11995+10insTCTTTTT Uncertain 3_149087404_T->C 3 149087404 149087404 T C snp 90.28 1/1 9 3 0 3 1.0 UTR3 rs8479 TM4SF1 AU 0.853035 0.8641 Uncertain 3_149087714_T->C 3 149087714 149087714 T C snp 272.8 1/1 21 10 0 10 1.0 intronic rs6776940 TM4SF1 AU NM_014220 exon1 c.15+47T>C 0.892372 0.8641 0.889402 0.8771 0.8801 Uncertain 3_149093238_A->G 3 149093238 149093238 A G snp 2068.77 1/1 99 71 0 71 1.0 exonic rs4771 TM4SF1 AU synonymous SNV NM_014220 exon3 c.T405C p.T135T 0.89357 0.8641 0.888744 0.8778 0.8801 Uncertain 3_149205217_A->G 3 149205217 149205217 A G snp 44.77 0/1 33 3 1 2 0.67 intronic rs34895718 TM4SF4 AU NM_004617 exon3 c.12741-188A>G 0.280751 0.2133 Uncertain 3_149238595_-->TTAA 3 149238595 149238595 - TTAA indel 7277.73 1/1 99 97 0 97 1.0 exonic rs112399999 WWTR1 AU stopgain NM_001168280 exon7 c.1199_1200insTTAA p.L400_X401delinsLX 0.114417 0.2004 0.107251 0.1008 0.2017 Pathogenic 3_149243694_G->C 3 149243694 149243694 G C snp 48.74 1/1 6 2 0 2 1.0 intronic rs9854499 WWTR1 AU NM_001168280 exon2 c.5208-105G>C 0.837859 0.9484 Uncertain 3_149243715_T->G 3 149243715 149243715 T G snp 267.8 1/1 21 8 0 8 1.0 intronic rs77504578 WWTR1 AU NM_001168280 exon2 c.5208-84T>G 0.08127 0.1905 Uncertain 3_149459341_A->G 3 149459341 149459341 A G snp 1107.77 0/1 99 108 60 48 0.44 exonic rs7633238 COMMD2 AU synonymous SNV NM_016094 exon5 c.T567C p.N189N 0.779752 0.8165 0.767031 0.7031 0.7966 Uncertain 3_149510262_A->G 3 149510262 149510262 A G snp 1099.77 1/1 81 33 0 33 1.0 UTR5 rs4681554 ANKUB1 AU 0.835863 0.8899 Uncertain 3_149564075_A->G 3 149564075 149564075 A G snp 573.77 1/1 42 19 0 19 1.0 intronic rs6440641 RNF13 AU NM_007282 exon3 c.114+148A>G 0.879992 0.8899 Uncertain 3_149613233_TT->- 3 149613233 149613234 TT - indel 298.74 1/1 29 15 1 14 0.93 intronic rs143625944 RNF13 AU NM_007282 exon6 c.49446-26_49446-25delTT 0.947284 0.9563 0.3995 0.3612 Uncertain 3_149678534_C->T 3 149678534 149678534 C T snp 5205.77 1/1 99 187 0 187 1.0 exonic rs6768054 RNF13 AU synonymous SNV NM_183381 exon10 c.C789T p.H263H 0.66873 0.8661 0.611103 0.6937 0.8742 Uncertain 3_149679148_-->A 3 149679148 149679148 - A indel 1161.73 1/1 58 69 5 64 0.93 UTR3 rs35367664 RNF13 AU 0.4557 0.5286 Uncertain 3_149686076_T->C 3 149686076 149686076 T C snp 80.77 0/1 69 5 2 3 0.6 intronic rs2305855 PFN2 AU NM_002628 exon2 c.2191-68T>C 0.35004 0.6161 Uncertain 3_149686368_C->- 3 149686368 149686368 C - indel 1180.73 0/1 56 65 10 55 0.85 intronic rs61268501 PFN2 AU NM_002628 exon2 c.2384+31delC 0.597644 0.6349 0.4854 0.4909 Uncertain 3_149700519_T->C 3 149700519 149700519 T C snp 2706.77 0/1 99 249 127 122 0.49 intergenic rs7630407 LOC646903 AU 0.354433 0.5873 0.316469 0.4062 0.6199 Uncertain 3_150129171_-->T 3 150129171 150129171 - T indel 589.73 0/1 99 34 15 19 0.56 intronic rs3840253 TSC22D2 AU NM_001303264 exon1 c.1958+76insT 0.552915 0.3968 Uncertain 3_150262318_C->T 3 150262318 150262318 C T snp 695.77 0/1 99 78 45 33 0.42 intronic rs1533816 SERP1 AU NM_014445 exon1 c.41+33C>T 0.319688 0.4018 0.309213 0.3434 0.4070 Uncertain 3_150264428_T->C 3 150264428 150264428 T C snp 135.03 1/1 12 4 0 4 1.0 UTR5 rs6790726 SERP1 AU 0.823083 0.9097 Uncertain 3_150270077_C->G 3 150270077 150270077 C G snp 211.77 0/1 99 20 11 9 0.45 intronic rs12330655 EIF2A AU NM_032025 exon2 c.5553-65C>G 0.504193 0.5089 Uncertain 3_150276151_-->T 3 150276151 150276151 - T indel 72.73 0/1 99 11 6 5 0.45 intronic rs200333608 EIF2A AU NM_032025 exon3 c.11585-23insT 0.103035 0.0208 0.135176 0.1450 0.0303 Uncertain 3_150276153_C->T 3 150276153 150276153 C T snp 76.77 0/1 99 11 5 6 0.55 intronic rs575441945 EIF2A AU NM_032025 exon3 c.11585-21C>T 0.103035 0.0208 0.1571 0.0421 Uncertain 3_150283050_C->A 3 150283050 150283050 C A snp 851.77 0/1 99 88 49 39 0.44 intronic rs73001341 EIF2A AU NM_032025 exon6 c.17579+882C>A 0.119209 0.0208 0.1160 0.0303 Uncertain 3_150285520_T->C 3 150285520 150285520 T C snp 670.77 0/1 99 61 37 24 0.39 exonic rs2293151 EIF2A AU synonymous SNV NM_032025 exon7 c.T516C p.D172D 0.119209 0.0208 0.150591 0.1822 0.0510 Uncertain 3_150285664_A->G 3 150285664 150285664 A G snp 1899.77 0/1 99 164 85 79 0.48 intronic rs2293150 EIF2A AU NM_032025 exon8 c.21099-24A>G 0.10643 0.0208 0.145600 0.1346 0.0200 Uncertain 3_150286210_A->T 3 150286210 150286210 A T snp 139.03 1/1 12 4 0 4 1.0 intronic rs1915945 EIF2A AU NM_032025 exon9 c.21490+131A>T 0.119209 0.0208 Uncertain 3_150332199_T->G 3 150332199 150332199 T G snp 163.79 0/1 22 8 1 7 0.88 intronic rs1568586 SELT AU NM_016275 exon2 c.19022-7972T>G 0.765974 0.994 Uncertain 3_150340114_A->G 3 150340114 150340114 A G snp 116.77 0/1 99 8 4 4 0.5 intronic rs2177148 SELT AU NM_016275 exon2 c.19022-57A>G 0.482029 0.5179 Uncertain 3_150342397_C->T 3 150342397 150342397 C T snp 239.77 0/1 99 16 8 8 0.5 intronic rs17440940 SELT AU NM_016275 exon4 c.21449-201C>T 0.0766773 0.0198 Uncertain 3_150384807_T->G 3 150384807 150384807 T G snp 3312.77 1/1 99 118 0 118 1.0 splicing rs6440691 ERICH6 AU NM_152394 exon2 c.7124+5T>G 0.959864 1 0.910580 0.9232 0.9999 Pathogenic 3_150420438_T->C 3 150420438 150420438 T C snp 425.77 1/1 33 11 0 11 1.0 intronic rs9823709 ERICH6 AU NM_152394 exon13 c.42287+473T>C 0.81889 0.9563 Uncertain 3_150420588_-->TTAAA 3 150420588 150420588 - TTAAA indel 5457.73 1/1 99 74 0 74 1.0 intronic rs10663389 ERICH6 AU NM_152394 exon13 c.42287+623insTTAAA 0.81849 0.9554 Uncertain 3_150420606_T->G 3 150420606 150420606 T G snp 2477.77 1/1 99 96 2 94 0.98 intronic rs9824030 ERICH6 AU NM_152394 exon13 c.42287+641T>G 0.347244 0.5546 Uncertain 3_150420608_G->T 3 150420608 150420608 G T snp 2288.77 1/1 95 97 5 92 0.95 intronic rs9879627 ERICH6 AU NM_152394 exon13 c.42287+643G>T 0.38119 0.5556 Uncertain 3_150420676_-->GTGT 3 150420676 150420676 - GTGT indel 1299.73 1/1 72 57 0 57 1.0 intronic rs10663390 ERICH6 AU NM_152394 exon14 c.43604-606insGTGT 0.561102 0.9196 Uncertain 3_150420703_C->G 3 150420703 150420703 C G snp 87.77 0/1 99 25 20 5 0.2 intronic rs139964976 ERICH6 AU NM_152394 exon14 c.43604-579C>G Uncertain 3_150420782_AG->- 3 150420782 150420783 AG - indel 449.73 1/1 36 13 0 13 1.0 intronic rs71676608 ERICH6 AU NM_152394 exon14 c.43604-500_43604-499delAG Uncertain 3_150421527_-->TCCTCCTCCTCCTCCACCTCT 3 150421527 150421527 - TCCTCCTCCTCCTCCACCTCT indel 2876.73 1/1 87 93 0 93 1.0 exonic ERICH6 AU nonframeshift insertion NM_152394 exon1 c.158_159insAGAGGTGGAGGAGGAGGAGGA p.E53delinsEEVEEEEE Uncertain 3_150480057_A->T 3 150480057 150480057 A T snp 46.78 0/1 27 3 1 2 0.67 intronic rs1444197 SIAH2 AU NM_005067 exon2 c.20292-162A>T 0.213458 0.3998 Uncertain 3_150480175_C->A 3 150480175 150480175 C A snp 1463.77 0/1 99 114 56 58 0.51 intronic rs3773613 SIAH2 AU NM_005067 exon2 c.20292-44C>A 0.0071885 0.0347 0.0027 0.0466 Uncertain 3_150480489_C->T 3 150480489 150480489 C T snp 630.77 0/1 99 44 19 25 0.57 exonic rs1373419 SIAH2 AU nonsynonymous SNV NM_005067 exon1 c.G148A p.A50T 0.0279553 0.0357 0.1306 0.3125 0.18 T 0.944 D -1.031 T 0.003 T 0.001 T Pathogenic 3_150588715_A->T 3 150588715 150588715 A T snp 139.03 1/1 12 4 0 4 1.0 intergenic rs3732752 SIAH2 AU 0.171725 0.4355 Uncertain 3_150661842_T->G 3 150661842 150661842 T G snp 499.77 0/1 99 35 19 16 0.46 intronic rs11914988 CLRN1 AU,AR NM_001256819 exon3 c.2363+64T>G 0.271965 0.4315 Uncertain 3_150690566_T->C 3 150690566 150690566 T C snp 413.77 0/1 99 23 9 14 0.61 ncRNA_exonic rs3796240 CLRN1-AS1 AU 0.469249 0.4365 0.55 0.4702 Uncertain 3_150804908_T->G 3 150804908 150804908 T G snp 686.77 1/1 51 20 0 20 1.0 intronic rs7653870 MED12L AU NM_053002 exon1 c.99+96T>G 0.568091 0.5605 Uncertain 3_150834015_G->A 3 150834015 150834015 G A snp 860.77 1/1 63 27 0 27 1.0 intronic rs4680158 MED12L AU NM_053002 exon2 c.29411-109G>A 0.815096 0.755 Uncertain 3_150845574_C->T 3 150845574 150845574 C T snp 1371.77 1/1 99 44 0 44 1.0 intronic rs1897296 MED12L AU NM_053002 exon4 c.40898-37C>T 0.389377 0.4603 0.317433 0.2695 0.4950 Uncertain 3_150845795_C->G 3 150845795 150845795 C G snp 3595.77 1/1 99 123 0 123 1.0 intronic rs7427471 MED12L AU NM_053002 exon4 c.41058+24C>G 0.258187 0.2629 0.231278 0.1959 0.3047 Uncertain 3_150910640_G->C 3 150910640 150910640 G C snp 889.77 1/1 66 24 0 24 1.0 intronic rs1231520 MED12L AU NM_053002 exon14 c.106563-636G>C 0.891973 0.7639 Uncertain 3_150916131_-->G 3 150916131 150916131 - G indel 235.8 1/1 18 6 0 6 1.0 UTR3 rs61332153 GPR171 AU 0.263978 0.3631 Uncertain 3_151011944_A->C 3 151011944 151011944 A C snp 559.77 0/1 99 66 41 25 0.38 UTR3 rs12492699 GPR87 AU 0.178115 0.1567 0.169076 0.2359 0.1695 Uncertain 3_151011969_G->A 3 151011969 151011969 G A snp 617.77 0/1 99 73 43 30 0.41 exonic rs1048408 GPR87 AU synonymous SNV NM_023915 exon3 c.C1065T p.Y355Y 0.495607 0.5139 0.458327 0.4849 0.4728 Uncertain 3_151012497_T->C 3 151012497 151012497 T C snp 2841.77 0/1 99 250 145 105 0.42 exonic rs2242353 GPR87 AU synonymous SNV NM_023915 exon3 c.A537G p.L179L 0.802915 0.7212 0.800323 0.7921 0.7099 Uncertain 3_151045661_G->C 3 151045661 151045661 G C snp 120.77 0/1 99 19 14 5 0.26 UTR3 rs1491980 P2RY13 AU 0.891374 0.8482 Uncertain 3_151046308_G->A 3 151046308 151046308 G A snp 1259.77 0/1 99 106 55 51 0.48 exonic rs1466684 P2RY13 AU nonsynonymous SNV NM_176894 exon2 c.C536T p.T179M 0.895168 0.8472 0.871521 0.8636 0.8397 1 T 0.000 P -0.950 T 0.001 T 0.0 T Pathogenic 3_151056598_A->C 3 151056598 151056598 A C snp 3400.77 1/1 99 131 0 131 1.0 exonic rs6809699 P2RY12 AR synonymous SNV NM_022788 exon3 c.T36G p.G12G 0.911542 0.8988 0.878825 0.8703 0.8853 Uncertain 3_151067730_C->T 3 151067730 151067730 C T snp 315.77 0/1 99 27 15 12 0.44 intronic rs1565574 MED12L AU NM_053002 exon15 c.263133-116C>T 0.442292 0.5079 Uncertain 3_151073033_T->C 3 151073033 151073033 T C snp 1235.77 0/1 99 114 68 46 0.4 splicing rs7615865 MED12L AU NM_053002 exon16 c.268314+6T>C 0.833267 0.8512 0.752038 0.7492 0.8460 Pathogenic 3_151073937_T->C 3 151073937 151073937 T C snp 811.77 0/1 99 65 35 30 0.46 intronic rs1994730 MED12L AU NM_053002 exon17 c.269114+110T>C 0.833466 0.8512 Uncertain 3_151085578_C->A 3 151085578 151085578 C A snp 1737.77 0/1 99 205 123 82 0.4 intronic rs3732764 MED12L AU NM_053002 exon22 c.280841+24C>A 0.808706 0.8403 0.740966 0.7359 0.8386 Uncertain 3_151090424_G->A 3 151090424 151090424 G A snp 2623.77 0/1 99 250 138 112 0.45 exonic rs3732765 MED12L AU nonsynonymous SNV NM_053002 exon25 c.G3629A p.R1210Q 0.203275 0.1389 0.276488 0.3060 0.1388 0.2 T 1.000 P -0.973 T 0.828 T 0.403 P Pathogenic 3_151096112_T->C 3 151096112 151096112 T C snp 324.77 0/1 90 15 4 11 0.73 intronic rs12497065 MED12L AU NM_053002 exon29 c.291248+151T>C 0.226637 0.1379 Uncertain 3_151096164_T->A 3 151096164 151096164 T A snp 48.74 1/1 6 2 0 2 1.0 intronic rs12497089 MED12L AU NM_053002 exon29 c.291248+203T>A 0.210663 0.1379 Uncertain 3_151100677_T->G 3 151100677 151100677 T G snp 593.77 0/1 99 44 22 22 0.5 intronic rs3821663 MED12L AU NM_053002 exon31 c.295820+144T>G 0.228435 0.1409 Uncertain 3_151101544_T->C 3 151101544 151101544 T C snp 2172.77 0/1 99 185 90 95 0.51 intronic rs117077478 MED12L AU NM_053002 exon32 c.296853-22T>C 0.00998403 0.0496 0.000077 0.0042 0.0524 Uncertain 3_151101691_C->T 3 151101691 151101691 C T snp 1788.77 0/1 99 137 64 73 0.53 intronic rs10935841 MED12L AU NM_053002 exon32 c.296963+15C>T 0.28754 0.1389 0.361833 0.3449 0.1542 Uncertain 3_151101746_C->T 3 151101746 151101746 C T snp 956.77 0/1 99 62 31 31 0.5 intronic rs12485508 MED12L AU NM_053002 exon32 c.296963+70C>T 0.287141 0.1389 Uncertain 3_151108071_T->- 3 151108071 151108071 T - indel 180.73 0/1 99 15 6 9 0.6 intronic rs56194873 MED12L AU NM_053002 exon36 c.303210+148delT 0.216054 0.1399 Uncertain 3_151131183_G->A 3 151131183 151131183 G A snp 293.77 0/1 99 19 9 10 0.53 intronic rs2276764 MED12L AU NM_053002 exon40 c.326370+100G>A 0.469649 0.4435 Uncertain 3_151143354_-->TG 3 151143354 151143354 - TG indel 389.73 0/1 99 27 15 12 0.44 intronic rs10682609 MED12L AU NM_053002 exon42 c.343373-4732insTG 0.556909 0.4732 Uncertain 3_151143447_G->T 3 151143447 151143447 G T snp 1310.77 0/1 99 93 37 56 0.6 intronic rs6440742 MED12L AU NM_053002 exon42 c.343373-4639G>T 0.588858 0.4851 0.6980 0.5051 1 T 0.0 P Uncertain 3_151147968_C->T 3 151147968 151147968 C T snp 2384.77 0/1 99 193 104 89 0.46 intronic rs6772196 MED12L AU NM_053002 exon42 c.343373-118C>T 0.21266 0.4137 Uncertain 3_151150422_C->T 3 151150422 151150422 C T snp 828.77 0/1 99 96 59 37 0.39 intronic rs3732771 MED12L AU NM_053002 exon43 c.345826-117C>T 0.21226 0.3829 Uncertain 3_151154666_T->C 3 151154666 151154666 T C snp 2851.77 1/1 99 88 0 88 1.0 exonic rs2172250 IGSF10 AU synonymous SNV NM_001178145 exon2 c.A1764G p.T588T 0.851438 0.8988 0.846455 0.8312 0.8995 Uncertain 3_151155620_G->A 3 151155620 151155620 G A snp 3233.06 0/1 99 249 118 131 0.53 exonic rs6781302 IGSF10 AU synonymous SNV NM_001178145 exon2 c.C810T p.N270N 0.591853 0.5169 0.683454 0.6761 0.4961 Uncertain 3_151155758_A->C 3 151155758 151155758 A C snp 2984.77 0/1 99 250 135 115 0.46 exonic rs9864533 IGSF10 AU synonymous SNV NM_001178145 exon2 c.T672G p.S224S 0.206669 0.3819 0.103260 0.1335 0.4037 Uncertain 3_151156477_T->C 3 151156477 151156477 T C snp 364.77 0/1 99 26 14 12 0.46 intronic rs12635091 IGSF10 AU NM_001178146 exon1 c.1909+92T>C 0.206869 0.3829 Uncertain 3_151158184_A->T 3 151158184 151158184 A T snp 722.77 1/1 54 20 0 20 1.0 intronic rs937126 IGSF10 AU NM_001178145 exon2 c.3886-178A>T 0.766973 0.7867 Uncertain 3_151158265_G->A 3 151158265 151158265 G A snp 1649.77 0/1 99 142 69 73 0.51 intronic rs937125 IGSF10 AU NM_001178145 exon2 c.3886-97G>A 0.598442 0.5179 Uncertain 3_151158502_-->AG 3 151158502 151158502 - AG indel 404.73 0/1 99 20 10 10 0.5 UTR5 rs10663807 IGSF10 AU 0.60623 0.5179 Uncertain 3_151161112_A->G 3 151161112 151161112 A G snp 2926.77 0/1 99 250 132 118 0.47 exonic rs12487205 IGSF10 AU nonsynonymous SNV NM_178822 exon5 c.T5623C p.Y1875H 0.0261581 0.0238 0.029064 0.0339 0.0377 0.964 N -1.080 T 0.001 T 0.002 T Pathogenic 3_151165678_T->C 3 151165678 151165678 T C snp 3524.77 1/1 99 107 0 107 1.0 exonic rs9871952 IGSF10 AU synonymous SNV NM_178822 exon4 c.A2091G p.Q697Q 0.786342 0.7649 0.777795 0.7635 0.7737 Uncertain 3_151166058_G->A 3 151166058 151166058 G A snp 2885.77 0/1 99 250 132 118 0.47 exonic rs17204557 IGSF10 AU nonsynonymous SNV NM_178822 exon4 c.C1711T p.P571S 0.0433307 0.0238 0.026142 0.0439 0.0378 0.07 T 1 N -1.073 T 0.006 T 0.008 T Pathogenic 3_151166422_C->T 3 151166422 151166422 C T snp 2912.77 0/1 99 250 130 120 0.48 exonic rs6798252 IGSF10 AU synonymous SNV NM_178822 exon4 c.G1347A p.Q449Q 0.710663 0.7401 0.715823 0.7092 0.7359 Uncertain 3_151171439_A->C 3 151171439 151171439 A C snp 2618.77 0/1 99 247 130 117 0.47 exonic rs7619322 IGSF10 AU nonsynonymous SNV NM_178822 exon3 c.T448G p.Y150D 0.727835 0.745 0.714516 0.7239 0.7407 0.27 T 0.807 P -0.915 T 0.938 T 0.768 D Pathogenic 3_151171542_A->G 3 151171542 151171542 A G snp 2603.77 1/1 99 87 0 87 1.0 exonic rs7621591 IGSF10 AU synonymous SNV NM_178822 exon3 c.T345C p.N115N 0.811701 0.7649 0.800218 0.7738 0.7787 Uncertain 3_151283646_T->C 3 151283646 151283646 T C snp 139.03 1/1 12 5 0 5 1.0 downstream rs7631281 MIR5186 AU 0.761781 0.7956 0.8636 . Uncertain 3_151283691_C->A 3 151283691 151283691 C A snp 307.78 1/1 24 10 0 10 1.0 ncRNA_exonic rs9842591 MIR5186 AU 0.522564 0.5427 0.8333 . Uncertain 3_151463421_G->T 3 151463421 151463421 G T snp 3889.77 1/1 99 148 1 147 0.99 exonic AADACL2 AU nonsynonymous SNV NM_207365 exon4 c.G556T p.A186S 0.706669 0.624 0.698170 0.6726 0.6303 1 T 0.0 P -0.886 T 0.0 T 0.006 T Pathogenic 3_151475421_G->A 3 151475421 151475421 G A snp 175.77 0/1 99 19 11 8 0.42 ncRNA_intronic AADACL2-AS1 AU 0.000199681 0.001 0.0003 0.0036 Uncertain 3_151531894_C->T 3 151531894 151531894 C T snp 3744.77 1/1 99 135 0 135 1.0 ncRNA_intronic rs2293004 AADACL2-AS1 AU 0.306909 0.3264 Uncertain 3_151535422_G->A 3 151535422 151535422 G A snp 391.77 1/1 30 11 0 11 1.0 ncRNA_intronic rs2271942 AADACL2-AS1 AU 0.738219 0.5764 0.785637 0.7614 0.5835 Uncertain 3_151538324_G->T 3 151538324 151538324 G T snp 34.77 0/1 33 3 1 2 0.67 ncRNA_intronic AADACL2-AS1 AU Uncertain 3_151542409_AAAC->- 3 151542409 151542412 AAAC - indel 677.73 1/1 33 11 0 11 1.0 ncRNA_intronic rs148745568 AADACL2-AS1 AU 0.734425 0.5764 0.774274 0.7603 0.5947 Uncertain 3_151542737_G->A 3 151542737 151542737 G A snp 436.77 1/1 33 12 0 12 1.0 ncRNA_intronic rs13098550 AADACL2-AS1 AU 0.734625 0.5774 Uncertain 3_151542750_TATT->- 3 151542750 151542753 TATT - indel 641.74 1/1 27 10 0 10 1.0 ncRNA_intronic rs151253803 AADACL2-AS1 AU 0.734625 0.5774 Uncertain 3_151545318_A->T 3 151545318 151545318 A T snp 399.77 1/1 30 13 0 13 1.0 ncRNA_intronic rs2410837 AADACL2-AS1 AU 0.734425 0.5774 0.7497 0.5733 Uncertain 3_151545322_T->- 3 151545322 151545322 T - indel 452.73 1/1 39 13 0 13 1.0 ncRNA_intronic rs11306821 AADACL2-AS1 AU 0.776810 0.7501 0.5736 Uncertain 3_151545323_T->G 3 151545323 151545323 T G snp 411.77 1/1 33 14 0 14 1.0 ncRNA_intronic rs62272918 AADACL2-AS1 AU 0.7499 0.5734 Uncertain 3_151545601_G->A 3 151545601 151545601 G A snp 6676.77 1/1 99 250 0 250 1.0 exonic rs1803155 AADAC AU nonsynonymous SNV NM_001086 exon5 c.G841A p.V281I 0.734425 0.5774 0.778111 0.7582 0.5826 0.21 T 1.0 P -1.038 T 0.721 T 0.242 P ID=CM127608;DIS=Reduced enzyme activity;TAG=FP;PUB=22415931 FP Pathogenic 3_151546041_G->A 3 151546041 151546041 G A snp 391.77 1/1 33 12 0 12 1.0 ncRNA_intronic rs1042201 AADACL2-AS1 AU 0.484625 0.4256 Uncertain 3_151597971_A->G 3 151597971 151597971 A G snp 110.77 0/1 99 8 4 4 0.5 ncRNA_intronic rs75265510 AADACL2-AS1 AU 0.0539137 0.2302 Uncertain 3_151599393_C->T 3 151599393 151599393 C T snp 560.77 0/1 99 36 18 18 0.5 ncRNA_intronic rs13079080 AADACL2-AS1 AU 0.415935 0.2996 Uncertain 3_151599482_C->T 3 151599482 151599482 C T snp 42.77 0/1 33 3 1 2 0.67 ncRNA_intronic rs56171835 AADACL2-AS1 AU 0.140775 0.2054 Uncertain 3_152150885_C->T 3 152150885 152150885 C T snp 54.74 1/1 6 2 0 2 1.0 intronic rs12635093 MBNL1 AU NM_021038 exon4 c.132727+176C>T 0.189696 0.2272 Uncertain 3_152554357_A->G 3 152554357 152554357 A G snp 2857.77 0/1 99 250 140 110 0.44 exonic rs701265 P2RY1 AU synonymous SNV NM_002563 exon1 c.A786G p.V262V 0.365415 0.248 0.327080 0.2152 0.2858 Uncertain 3_153839866_G->C 3 153839866 153839866 G C snp 6466.77 1/1 99 235 0 235 1.0 exonic rs12493885 ARHGEF26 AU nonsynonymous SNV NM_001251962 exon2 c.G85C p.V29L 0.959265 0.999 0.899100 0.9111 0.9992 1 T 0.0 P -0.975 T 0.0 T 0.0 T Pathogenic 3_153839960_T->C 3 153839960 153839960 T C snp 6027.77 1/1 99 206 0 206 1.0 exonic rs12497267 ARHGEF26 AU nonsynonymous SNV NM_001251962 exon2 c.T179C p.L60P 0.949681 0.9911 0.840473 0.9079 0.9990 0.52 T 0.0 P -0.992 T 0.0 T 0.0 T Pathogenic 3_153840162_C->T 3 153840162 153840162 C T snp 6923.77 1/1 99 246 0 246 1.0 exonic rs13073165 ARHGEF26 AU synonymous SNV NM_001251962 exon2 c.C381T p.S127S 0.201478 0.3363 0.105861 0.1697 0.3645 Uncertain 3_153840389_T->C 3 153840389 153840389 T C snp 5313.77 1/1 99 194 0 194 1.0 exonic rs13096373 ARHGEF26 AU nonsynonymous SNV NM_001251962 exon2 c.T608C p.F203S 0.324281 0.4514 0.203650 0.2109 0.4839 1 T 0.0 P -0.919 T 0.0 T 0.0 T Pathogenic 3_153870883_A->G 3 153870883 153870883 A G snp 546.77 1/1 42 16 0 16 1.0 intronic rs1470663 ARHGEF26 AU NM_001251963 exon6 c.30940+162A>G 0.958067 0.999 Uncertain 3_153970796_A->G 3 153970796 153970796 A G snp 5287.77 1/1 99 172 0 172 1.0 intronic rs355752 ARHGEF26 AU NM_001251963 exon13 c.131123-108A>G 0.956869 1 Uncertain 3_153970802_T->A 3 153970802 153970802 T A snp 5608.77 1/1 99 191 0 191 1.0 intronic rs71308481 ARHGEF26 AU NM_001251963 exon13 c.131123-102T>A 0.202476 0.37 Uncertain 3_153972500_T->C 3 153972500 153972500 T C snp 2476.77 1/1 99 93 1 92 0.99 intronic rs355749 ARHGEF26 AU NM_015595 exon14 c.132727-8T>C 0.95607 1 0.893355 0.9019 0.9992 Uncertain 3_154010516_ACAC->- 3 154010516 154010519 ACAC - indel 1075.73 ./1 99 52 0 52 1.0 intronic rs58416816 DHX36 AU NM_001114397 exon11 c.16524+33_16524+36delACAC 0.1498 0.3197 Uncertain 3_154010516_AC->- 3 154010516 154010517 AC - indel 1075.73 ./1 99 52 0 52 1.0 intronic rs149798542 DHX36 AU NM_001114397 exon11 c.16524+33_16524+34delAC 0.1114 0.0712 Uncertain 3_154034043_T->C 3 154034043 154034043 T C snp 1177.77 1/1 87 34 0 34 1.0 intronic rs3817166 DHX36 AU NM_001114397 exon24 c.39993+91T>C 0.205471 0.371 Uncertain 3_154802742_T->G 3 154802742 154802742 T G snp 171.77 0/1 99 14 4 10 0.71 intronic rs28617565 MME AU NM_000902 exon3 c.891-105T>G 0.107827 0.1151 Uncertain 3_154807720_G->A 3 154807720 154807720 G A snp 216.78 0/1 24 13 2 11 0.85 intronic rs3773903 MME AU NM_000902 exon3 c.927+4837G>A 0.0964457 0.1121 Uncertain 3_154832773_G->T 3 154832773 154832773 G T snp 1609.77 0/1 99 182 111 71 0.39 intronic MME AU NM_000902 exon4 c.30826-9G>T Uncertain 3_154858158_C->T 3 154858158 154858158 C T snp 539.77 0/1 99 49 27 22 0.45 intronic rs28758831 MME AU NM_000902 exon10 c.56125+77C>T 0.125 0.1141 Uncertain 3_154866453_T->C 3 154866453 154866453 T C snp 1863.77 0/1 99 148 65 83 0.56 intronic rs1436633 MME AU NM_000902 exon16 c.64486+11T>C 0.333267 0.2083 0.388709 0.3223 0.2003 Uncertain 3_154866545_A->C 3 154866545 154866545 A C snp 1141.77 0/1 99 86 39 47 0.55 intronic rs1436632 MME AU NM_000902 exon16 c.64486+103A>C 0.333267 0.2083 Uncertain 3_154878159_A->- 3 154878159 154878159 A - indel 1008.73 0/1 99 45 18 27 0.6 intronic rs35450782 MME AU NM_000902 exon17 c.76222-19delA 0.208666 0.0794 0.290335 0.2345 0.0732 Uncertain 3_154890206_G->A 3 154890206 154890206 G A snp 355.77 0/1 99 20 9 11 0.55 intronic rs3816803 MME AU NM_000902 exon22 c.88368-118G>A 0.232827 0.0764 Uncertain 3_154898407_C->T 3 154898407 154898407 C T snp 279.77 0/1 91 15 4 11 0.73 UTR3 rs701109 MME AU 0.437101 0.3839 Uncertain 3_155027416_T->C 3 155027416 155027416 T C snp 303.78 1/1 24 11 0 11 1.0 intergenic rs9854587 LOC100507537 AU 0.483027 0.5883 Uncertain 3_155212325_-->A 3 155212325 155212325 - A indel 4331.73 1/1 99 139 0 139 1.0 intronic rs3214639 PLCH1 AU NM_001130961 exon10 c.11152+19insA 0.885184 0.9395 0.855694 0.8248 0.9419 Uncertain 3_155241593_A->G 3 155241593 155241593 A G snp 3155.77 1/1 99 97 0 97 1.0 intronic rs9840061 PLCH1 AU NM_001130961 exon15 c.40531-92A>G 0.767772 0.9236 Uncertain 3_155241740_A->G 3 155241740 155241740 A G snp 7475.77 1/1 99 246 1 245 1.0 exonic rs9840234 PLCH1 AU synonymous SNV NM_001130960 exon10 c.T1380C p.S460S 0.769768 0.9256 0.724050 0.7457 0.9475 Uncertain 3_155272131_G->A 3 155272131 155272131 G A snp 272.77 0/1 99 20 11 9 0.45 intronic rs117409194 PLCH1 AU NM_001130961 exon17 c.70831+146G>A 0.00998403 0.0466 Uncertain 3_155282678_C->G 3 155282678 155282678 C G snp 130.77 0/1 99 16 10 6 0.38 intronic rs79731174 PLCH1 AU NM_001130961 exon18 c.81549-25C>G 0.0183706 0.0546 0.001230 0.0073 0.0536 Uncertain 3_155481609_G->A 3 155481609 155481609 G A snp 944.77 0/1 99 96 52 44 0.46 exonic rs7653384 C3orf33 AU synonymous SNV NM_173657 exon6 c.C453T p.Y151Y 0.46885 0.3155 0.597607 0.5840 0.3681 Uncertain 3_155485302_C->T 3 155485302 155485302 C T snp 1326.77 1/1 99 42 0 42 1.0 exonic rs358733 C3orf33 AU nonsynonymous SNV NM_173657 exon5 c.G350A p.S117N 0.841054 0.9117 0.794673 0.8240 0.9145 1 T 0.0 P -0.985 T 0.0 T 0.0 T Pathogenic 3_155611557_T->G 3 155611557 155611557 T G snp 200.77 0/1 89 11 3 8 0.73 intronic rs6441026 GMPS AU NM_003875 exon2 c.22829+69T>G 0.848243 0.8442 Uncertain 3_155623845_G->T 3 155623845 155623845 G T snp 32.77 0/1 61 8 5 3 0.38 intronic GMPS AU NM_003875 exon5 c.35289-103G>T Uncertain 3_155654432_T->A 3 155654432 155654432 T A snp 182.9 1/1 15 5 0 5 1.0 intronic rs3772113 GMPS AU NM_003875 exon15 c.65640+133T>A 0.884984 0.9157 Uncertain 3_155991348_G->T 3 155991348 155991348 G T snp 1677.77 1/1 99 63 0 63 1.0 intronic rs1160221 KCNAB1 AU 0.859625 0.9762 0.8185 0.9783 Uncertain 3_156009614_A->G 3 156009614 156009614 A G snp 383.77 1/1 30 10 0 10 1.0 UTR5 rs2290165 KCNAB1 AU 0.479233 0.5218 Uncertain 3_156249151_C->T 3 156249151 156249151 C T snp 2133.77 0/1 99 198 109 89 0.45 intronic rs9681788 KCNAB1 AU NM_003471 exon13 c.388230-46C>T 0.0904553 0.125 0.053052 0.0311 0.1431 Uncertain 3_156249407_G->C 3 156249407 156249407 G C snp 195.77 0/1 99 25 16 9 0.36 intronic rs2280030 KCNAB1 AU NM_003471 exon13 c.388319+121G>C 0.539137 0.5982 Uncertain 3_156262232_C->G 3 156262232 156262232 C G snp 1001.77 0/1 99 70 27 43 0.61 splicing rs6792998 SSR3 AU NM_007107 exon2 c.1237+4C>G 0.34385 0.3829 0.294095 0.2867 0.3548 Pathogenic 3_156266642_C->T 3 156266642 156266642 C T snp 2748.77 1/1 99 106 0 106 1.0 intronic rs6809188 SSR3 AU NM_007107 exon3 c.5702-51C>T 0.99381 1 0.987779 0.9848 1 Uncertain 3_156266765_A->G 3 156266765 156266765 A G snp 905.77 0/1 99 59 23 36 0.61 exonic rs16826514 SSR3 AU synonymous SNV NM_007107 exon3 c.T288C p.V96V 0.0445288 0.1091 0.009842 0.0175 0.1277 Uncertain 3_156266880_C->T 3 156266880 156266880 C T snp 160.77 0/1 99 12 5 7 0.58 intronic rs3773716 SSR3 AU NM_007107 exon3 c.5801+88C>T 0.40595 0.5952 Uncertain 3_156271595_G->A 3 156271595 156271595 G A snp 237.77 0/1 99 44 31 13 0.3 intronic rs2292337 SSR3 AU NM_007107 exon4 c.10579+25G>A 0.220447 0.3393 0.137706 0.1658 0.3215 Uncertain 3_156395329_G->T 3 156395329 156395329 G T snp 252.77 0/1 99 18 7 11 0.61 intronic rs345986 TIPARP AU 0.288139 0.1042 Uncertain 3_156399180_G->A 3 156399180 156399180 G A snp 693.77 0/1 99 34 13 21 0.62 intronic rs3851992 TIPARP AU NM_001184718 exon2 c.917+2777G>A 0.41853 0.7262 Uncertain 3_156411732_A->G 3 156411732 156411732 A G snp 338.77 0/1 99 17 7 10 0.59 intronic rs193197 TIPARP AU NM_001184718 exon3 c.16322-76A>G 0.294529 0.1042 Uncertain 3_156413918_T->C 3 156413918 156413918 T C snp 50.74 1/1 6 2 0 2 1.0 intronic rs344016 TIPARP AU NM_001184718 exon4 c.18328+104T>C 0.949681 0.9722 Uncertain 3_156421525_G->T 3 156421525 156421525 G T snp 43.77 0/1 70 4 2 2 0.5 intronic rs34277251 TIPARP AU NM_001184718 exon5 c.26005+34G>T 0.383187 0.7262 0.300286 0.4306 0.7162 Uncertain 3_156431750_A->G 3 156431750 156431750 A G snp 2425.77 1/1 99 82 0 82 1.0 intergenic rs344057 TIPARP AU 0.952077 0.9712 Uncertain 3_156544584_C->T 3 156544584 156544584 C T snp 5649.77 1/1 99 196 0 196 1.0 UTR5 rs344071 LEKR1 AU 0.695487 0.9365 Uncertain 3_156605929_C->T 3 156605929 156605929 C T snp 180.9 1/1 15 5 0 5 1.0 intronic rs4680312 LEKR1 AU NM_001193283 exon4 c.91245-32434C>T 0.460863 0.7341 Uncertain 3_156697097_G->A 3 156697097 156697097 G A snp 744.77 1/1 54 24 0 24 1.0 intronic rs6780427 LEKR1 AU NM_001004316 exon7 c.149946+33G>A 0.537141 0.7431 0.500438 0.5758 0.7530 Uncertain 3_156762953_C->T 3 156762953 156762953 C T snp 156.79 0/1 22 6 1 5 0.83 intronic rs79376310 LEKR1 AU NM_001004316 exon13 c.216010-175C>T 0.0491214 0.0655 Uncertain 3_156763279_C->T 3 156763279 156763279 C T snp 2020.77 0/1 99 156 73 83 0.53 exonic rs73873779 LEKR1 AU synonymous SNV NM_001004316 exon13 c.C1819T p.L607L 0.202077 0.1617 0.144549 0.0804 0.1960 Uncertain 3_156864399_AAAAAA->- 3 156864399 156864404 AAAAAA - indel 566.73 0/1 99 13 4 9 0.69 intergenic rs370594663 LINC00880 AU 0.3974 0.4405 Uncertain 3_156864420_A->- 3 156864420 156864420 A - indel 322.73 0/1 99 28 12 16 0.57 intergenic rs779902011 LINC00880 AU 0.2645 0.3873 Uncertain 3_156864551_T->A 3 156864551 156864551 T A snp 1222.77 1/1 87 49 0 49 1.0 intergenic rs6783595 LINC00880 AU 0.477037 0.5516 Uncertain 3_156864642_T->A 3 156864642 156864642 T A snp 198.77 0/1 58 8 2 6 0.75 downstream rs12636125 CCNL1 AU 0.241613 0.3333 Uncertain 3_156867776_-->AA 3 156867776 156867776 - AA indel 1701.73 1/1 99 55 0 55 1.0 intronic rs386398342 CCNL1 AU NM_020307 exon4 c.1737+10insAA 0.471446 0.5506 0.376058 0.4059 0.5656 ID=COSN229928;OCCURENCE=1(NS),1(skin) Uncertain 3_156870059_C->T 3 156870059 156870059 C T snp 556.77 0/1 99 50 27 23 0.46 intronic rs73154633 CCNL1 AU NM_020307 exon7 c.4001+29C>T 0.241813 0.3333 0.200907 0.2565 0.3646 Uncertain 3_156870816_A->G 3 156870816 156870816 A G snp 2047.77 0/1 99 158 66 92 0.58 intronic rs41272613 CCNL1 AU NM_020307 exon8 c.4795-8A>G 0.23722 0.3333 0.195371 0.2546 0.3646 Uncertain 3_156876502_G->A 3 156876502 156876502 G A snp 298.78 1/1 24 8 0 8 1.0 intronic rs6441114 CCNL1 AU NM_020307 exon9 c.10625-152G>A 0.468251 0.5516 Uncertain 3_156876574_A->G 3 156876574 156876574 A G snp 1016.77 0/1 99 79 35 44 0.56 intronic rs6441115 CCNL1 AU NM_020307 exon9 c.10625-80A>G 0.241813 0.3333 Uncertain 3_156876803_T->G 3 156876803 156876803 T G snp 1108.77 0/1 99 78 32 46 0.59 intronic rs6441116 CCNL1 AU NM_020307 exon9 c.10735+39T>G 0.241813 0.3333 0.200753 0.2586 0.3694 Uncertain 3_156877277_AA->- 3 156877277 156877278 AA - indel 2550.73 0/1 99 118 63 55 0.47 intronic rs59715654 CCNL1 AU NM_020307 exon10 c.11239+9_11239+10delAA 0.241214 0.3333 0.198371 0.2563 0.3640 Uncertain 3_156877357_T->C 3 156877357 156877357 T C snp 396.77 0/1 99 36 20 16 0.44 intronic rs10936061 CCNL1 AU NM_020307 exon10 c.11239+89T>C 0.241813 0.3333 Uncertain 3_156877530_G->A 3 156877530 156877530 G A snp 259.77 0/1 99 16 8 8 0.5 intronic rs12635088 CCNL1 AU NM_020307 exon11 c.11551-50G>A 0.242013 0.3343 0.146990 0.2300 0.3148 Uncertain 3_156877707_A->T 3 156877707 156877707 A T snp 3876.77 0/1 99 250 112 138 0.55 exonic rs9814142 CCNL1 AU synonymous SNV NM_020307 exon1 c.T177A p.I59I 0.0656949 0.0903 0.040135 0.0973 0.1293 Uncertain 3_156978919_-->T 3 156978919 156978919 - T indel 10506.7 1/1 99 250 0 250 1.0 UTR3 rs11398653 VEPH1 AU 0.462061 0.5397 0.367833 0.4123 0.5914 Uncertain 3_156983191_G->T 3 156983191 156983191 G T snp 325.77 0/1 99 20 10 10 0.5 intronic rs3749215 VEPH1 AU NM_024621 exon2 c.4392-123G>T 0.0690895 0.0863 Uncertain 3_156983273_A->G 3 156983273 156983273 A G snp 3519.77 1/1 99 117 0 117 1.0 intronic rs3749214 VEPH1 AU NM_024621 exon2 c.4392-41A>G 0.463658 0.5476 0.367292 0.4141 0.5982 Uncertain 3_156983414_T->C 3 156983414 156983414 T C snp 2708.77 0/1 99 209 93 116 0.56 exonic rs7652298 VEPH1 AU synonymous SNV NM_001167911 exon12 c.A2031G p.K677K 0.233626 0.3323 0.190989 0.2534 0.3619 Uncertain 3_157004141_G->A 3 157004141 157004141 G A snp 123.78 0/1 27 5 1 4 0.8 intronic rs4680352 VEPH1 AU NM_024621 exon3 c.25423-204G>A 0.227835 0.3343 Uncertain 3_157004271_C->G 3 157004271 157004271 C G snp 2057.77 0/1 99 149 61 88 0.59 intronic rs71310501 VEPH1 AU NM_024621 exon3 c.25423-74C>G 0.0557109 0.0863 Uncertain 3_157004323_A->C 3 157004323 157004323 A C snp 2134.77 0/1 99 216 120 96 0.44 intronic rs4680353 VEPH1 AU NM_024621 exon3 c.25423-22A>C 0.39377 0.4097 0.437952 0.4701 0.4218 Uncertain 3_157031337_A->- 3 157031337 157031337 A - indel 385.73 0/1 99 27 12 15 0.56 intronic rs34067114 VEPH1 AU NM_024621 exon4 c.52487-72delA 0.252196 0.1667 Uncertain 3_157081324_A->G 3 157081324 157081324 A G snp 1197.77 0/1 99 99 53 46 0.46 exonic rs11918974 VEPH1 AU nonsynonymous SNV NM_001167911 exon9 c.T1564C p.S522P 0.250599 0.3512 0.206289 0.2637 0.3893 1 T 1.000 P -0.915 T 0.0 T 0.0 T Pathogenic 3_157081353_T->C 3 157081353 157081353 T C snp 1358.77 0/1 99 112 52 60 0.54 exonic VEPH1 AU nonsynonymous SNV NM_001167911 exon9 c.A1535G p.N512S 1 T 1 D -0.956 T 0.0 T 0.0 T Pathogenic 3_157081604_A->C 3 157081604 157081604 A C snp 420.77 0/1 99 42 24 18 0.43 intronic rs55865575 VEPH1 AU NM_024621 exon6 c.102628+54A>C 0.239217 0.3512 Uncertain 3_157082082_-->AA 3 157082082 157082082 - AA indel 2456.73 1/1 99 45 0 45 1.0 intronic rs3833585 VEPH1 AU NM_024621 exon7 c.103169-9insAA 0.781949 0.744 0.717457 0.7148 0.7892 Uncertain 3_157131788_A->C 3 157131788 157131788 A C snp 1280.77 0/1 99 118 65 53 0.45 exonic rs1378796 VEPH1 AU nonsynonymous SNV NM_001167911 exon6 c.T788G p.V263G 0.192692 0.2292 0.129017 0.1479 0.2539 0.46 T 0.997 P -0.972 T 0.0 T 0.0 T Pathogenic 3_157146005_G->A 3 157146005 157146005 G A snp 316.78 1/1 24 11 0 11 1.0 intronic rs9289983 VEPH1 AU NM_024621 exon10 c.167188-105G>A 0.383986 0.4722 Uncertain 3_157146307_A->T 3 157146307 157146307 A T snp 2967.77 1/1 99 106 0 106 1.0 intronic rs1456099 VEPH1 AU NM_024621 exon10 c.167355+30A>T 0.418131 0.4752 0.433108 0.4770 0.4700 Uncertain 3_157154861_A->G 3 157154861 157154861 A G snp 5184.77 1/1 99 192 1 191 0.99 intronic rs2305619 PTX3 AU NM_002852 exon1 c.130+9A>G 0.5627 0.621 0.487083 0.5422 0.6289 Uncertain 3_157155314_C->A 3 157155314 157155314 C A snp 2764.77 1/1 99 107 0 107 1.0 exonic rs3816527 PTX3 AU nonsynonymous SNV NM_002852 exon2 c.C143A p.A48D 0.714657 0.7569 0.632098 0.6566 0.7911 1 T 0.000 P -0.988 T 0.0 T 0.0 T Pathogenic 3_157188045_A->G 3 157188045 157188045 A G snp 1678.77 1/1 99 55 0 55 1.0 intronic rs1456113 VEPH1 AU NM_001167917 exon3 c.10392-57A>G 0.679313 0.6736 Uncertain 3_157188378_C->T 3 157188378 157188378 C T snp 2343.77 1/1 99 75 0 75 1.0 intronic rs1011060 VEPH1 AU NM_001167917 exon3 c.10608+60C>T 0.430511 0.3909 Uncertain 3_157188458_A->- 3 157188458 157188458 A - indel 404.73 1/1 33 11 0 11 1.0 intronic rs5853785 VEPH1 AU NM_001167917 exon3 c.10608+140delA 0.678514 0.6736 Uncertain 3_157188466_C->T 3 157188466 157188466 C T snp 342.78 1/1 27 9 0 9 1.0 intronic rs1550651 VEPH1 AU NM_001167917 exon3 c.10608+148C>T 0.678315 0.6736 Uncertain 3_157289936_G->A 3 157289936 157289936 G A snp 96.28 1/1 9 3 0 3 1.0 intronic rs1373118 PQLC2L AU NM_001130002 exon4 c.18786+104G>A 0.661542 0.6885 Uncertain 3_157318257_C->T 3 157318257 157318257 C T snp 218.84 1/1 18 6 0 6 1.0 UTR3 rs4395360 PQLC2L AU 0.565495 0.6954 Uncertain 3_157817517_A->G 3 157817517 157817517 A G snp 216.84 1/1 18 7 0 7 1.0 intronic rs9833383 SHOX2 AU NM_001163678 exon2 c.1833-131A>G 0.908946 0.9931 Uncertain 3_157820423_C->T 3 157820423 157820423 C T snp 507.77 1/1 42 14 0 14 1.0 intronic rs4462902 SHOX2 AU NM_001163678 exon4 c.4651-43C>T 0.906949 0.9931 0.880978 0.8902 0.9957 Uncertain 3_157841531_G->A 3 157841531 157841531 G A snp 168.9 1/1 15 6 0 6 1.0 intronic rs6789448 RSRC1 AU NM_001271838 exon3 c.1761-123G>A 0.747404 0.8194 Uncertain 3_157849957_C->T 3 157849957 157849957 C T snp 229.84 1/1 18 8 0 8 1.0 intronic rs1609526 RSRC1 AU NM_001271838 exon3 c.1887+8177C>T 0.703474 0.8155 0.6596 0.8485 Uncertain 3_158072777_A->- 3 158072777 158072777 A - indel 140.73 0/1 99 21 11 10 0.48 intronic rs397689690 RSRC1 AU NM_001271838 exon6 c.232804+80delA 0.384784 0.5913 Uncertain 3_158300732_A->G 3 158300732 158300732 A G snp 574.77 1/1 42 22 0 22 1.0 intronic rs2566341 MLF1 AD NM_001195432 exon2 c.95+14A>G 0.940695 1 0.9063 0.9949 Uncertain 3_158308875_T->C 3 158308875 158308875 T C snp 1144.77 1/1 81 41 0 41 1.0 intronic rs2566339 MLF1 AD NM_001195432 exon3 c.9599-1347T>C 0.935304 1 0.901465 0.8989 0.9991 Uncertain 3_158310392_AGTT->- 3 158310392 158310395 AGTT - indel 6844.73 1/1 99 116 0 116 1.0 intronic rs34234841 MLF1 AD NM_001195432 exon3 c.9747+22_9747+25delAGTT 0.365815 0.6151 0.318719 0.3692 0.6713 Uncertain 3_158537416_T->- 3 158537416 158537416 T - indel 205.73 1/1 36 19 2 17 0.89 intronic rs112642724 MFSD1 AU NM_022736 exon8 c.17643-21delT 0.0646 0.0898 Uncertain 3_158537432_A->- 3 158537432 158537432 A - indel 176.73 0/1 99 39 27 12 0.31 splicing rs372205066 MFSD1 AU NM_022736 exon8 c.17643-5delA 0.0272 0.0704 Pathogenic 3_158970714_T->C 3 158970714 158970714 T C snp 198.77 0/1 99 10 3 7 0.7 intronic rs1020470 IQCJ AU NM_001042705 exon3 c.183375+118T>C 0.530551 0.495 Uncertain 3_158980279_A->G 3 158980279 158980279 A G snp 97.77 0/1 99 9 5 4 0.44 intronic rs1449007 IQCJ AU NM_001042705 exon4 c.193115-57A>G 0.56889 0.503 Uncertain 3_158991553_C->G 3 158991553 158991553 C G snp 1517.77 0/1 99 116 52 64 0.55 UTR5 rs3732847 SCHIP1 AU 0.0489217 0.2361 Uncertain 3_158991724_A->T 3 158991724 158991724 A T snp 739.77 0/1 99 49 19 30 0.61 intronic rs2621285 IQCJ-SCHIP1 AU NM_001197113 exon4 c.193251+11252A>T 0.570088 0.502 0.704895 0.6686 0.5424 Uncertain 3_159482089_C->G 3 159482089 159482089 C G snp 72.77 0/1 99 7 4 3 0.43 intronic rs6763138 IQCJ-SCHIP1 AU NM_001197113 exon5 c.695010-142C>G 0.321086 0.4762 Uncertain 3_159604214_T->C 3 159604214 159604214 T C snp 99.28 1/1 9 4 0 4 1.0 intronic rs33055 IQCJ-SCHIP1 AU NM_001197113 exon7 c.816892+101T>C 0.42492 0.7401 Uncertain 3_159744261_G->A 3 159744261 159744261 G A snp 50.74 1/1 6 2 0 2 1.0 ncRNA_intronic rs2279741 IL12A-AS1 AU 0.377196 0.4494 Uncertain 3_159744277_C->T 3 159744277 159744277 C T snp 99.28 1/1 9 3 0 3 1.0 ncRNA_intronic rs2936300 IL12A-AS1 AU 0.589257 0.5853 Uncertain 3_159744352_C->T 3 159744352 159744352 C T snp 881.77 1/1 66 31 0 31 1.0 ncRNA_intronic rs2279742 IL12A-AS1 AU 0.657748 0.5843 0.6975 0.5147 Uncertain 3_159744438_C->T 3 159744438 159744438 C T snp 2295.77 1/1 99 85 0 85 1.0 ncRNA_exonic rs2914119 LINC01100 AU 0.629193 0.5853 0.6889 0.5149 0 D -0.999 T Uncertain 3_159744440_C->T 3 159744440 159744440 C T snp 2310.77 1/1 99 85 0 85 1.0 ncRNA_exonic rs2936301 LINC01100 AU 0.629193 0.5853 0.6889 0.5149 0 D -0.997 T Uncertain 3_159976432_-->A 3 159976432 159976432 - A indel 321.73 0/1 99 43 20 23 0.53 intronic rs397969922 IFT80 AR NM_020800 exon1 c.111+9insA 0.244409 0.1508 0.2984 0.2153 Uncertain 3_160146671_A->G 3 160146671 160146671 A G snp 1864.77 0/1 99 177 98 79 0.45 exonic rs17289278 SMC4 AU synonymous SNV NM_005496 exon17 c.A2736G p.Q912Q 0.00159744 0.0069 0.000154 0.0010 0.0131 ID=COSM1040606;OCCURENCE=1(endometrium) Uncertain 3_160223032_C->T 3 160223032 160223032 C T snp 40.77 0/1 69 5 3 2 0.4 intronic rs721022 KPNA4 AU NM_002268 exon2 c.2949+192C>T 0.526957 0.3105 Uncertain 3_160679422_T->C 3 160679422 160679422 T C snp 524.77 0/1 99 34 17 17 0.5 intronic rs7616249 PPM1L AU NM_139245 exon2 c.205427-101T>C 0.51278 0.744 Uncertain 3_160679744_A->T 3 160679744 160679744 A T snp 425.77 0/1 99 35 19 16 0.46 intronic rs7629001 PPM1L AU NM_139245 exon2 c.205602+46A>T 0.785144 0.7669 0.858495 0.8518 0.7578 Uncertain 3_160740016_A->C 3 160740016 160740016 A C snp 639.77 0/1 99 66 34 32 0.48 intronic rs12498008 PPM1L AU NM_139245 exon3 c.309094-43174A>C 0.203674 0.2827 Uncertain 3_160821929_T->C 3 160821929 160821929 T C snp 455.77 0/1 99 23 8 15 0.65 intronic rs7651087 B3GALNT1 AU NM_033168 exon3 c.18560-177T>C 0.551917 0.8026 Uncertain 3_160821969_A->G 3 160821969 160821969 A G snp 1112.77 0/1 99 81 39 42 0.52 intronic rs7617204 B3GALNT1 AU NM_033168 exon3 c.18560-137A>G 0.582268 0.8026 Uncertain 3_160939732_-->ATCCCAAC 3 160939732 160939732 - ATCCCAAC indel 2119.73 0/1 99 41 19 22 0.54 intronic rs148371722 NMD3 AU 0.550719 0.7222 0.457221 Uncertain 3_160939747_TTTTTTTTTTTTTTTTT->- 3 160939747 160939763 TTTTTTTTTTTTTTTTT - indel 4713.73 0/1 99 41 9 32 0.78 intronic NMD3 AU Uncertain 3_160939776_T->A 3 160939776 160939776 T A snp 2297.77 1/1 99 91 7 84 0.92 splicing rs6441366 NMD3 AU 0.561901 0.6964 0.018069 0.4517 0.6891 Pathogenic 3_160942667_T->C 3 160942667 160942667 T C snp 530.77 0/1 99 35 18 17 0.49 intronic rs76866405 NMD3 AU NM_015938 exon3 c.2916-50T>C 0.127396 0.122 0.070054 0.0727 0.1190 Uncertain 3_160964271_G->A 3 160964271 160964271 G A snp 793.77 0/1 99 80 41 39 0.49 intronic rs73026976 NMD3 AU NM_015938 exon12 c.24435+35G>A 0.346446 0.5248 0.293294 0.3479 0.5538 Uncertain 3_160967354_G->A 3 160967354 160967354 G A snp 1152.77 0/1 99 91 43 48 0.53 splicing rs4290817 NMD3 AU NM_015938 exon14 c.27547+6G>A 0.565296 0.7649 0.483469 0.5188 0.7941 Pathogenic 3_160970437_G->A 3 160970437 160970437 G A snp 677.77 1/1 48 32 0 32 1.0 downstream rs6789388 NMD3 AU 0.775359 0.9444 Uncertain 3_161064193_A->T 3 161064193 161064193 A T snp 982.77 1/1 75 29 0 29 1.0 intronic rs339101 SPTSSB AU NM_001040100 exon1 c.263+50A>T 0.780152 0.9663 Uncertain 3_161090616_C->T 3 161090616 161090616 C T snp 1125.77 0/1 99 81 37 44 0.54 upstream rs2054710 SPTSSB AU 0.345647 0.5427 Uncertain 3_161221705_A->C 3 161221705 161221705 A C snp 989.77 0/1 99 98 52 46 0.47 exonic rs3921595 OTOL1 AU nonsynonymous SNV NM_001080440 exon4 c.A1409C p.E470A 0.492612 0.2708 0.511477 0.4824 0.2771 0.02 T 0.098 P -0.934 T 0.979 D 0.628 D Pathogenic 3_163889059_A->T 3 163889059 163889059 A T snp 122.03 1/1 12 4 0 4 1.0 downstream rs12488423 MIR1263 AU 0.228235 0.4296 Uncertain 3_163889075_C->T 3 163889075 163889075 C T snp 379.77 1/1 30 10 0 10 1.0 downstream rs12494921 MIR1263 AU 0.320487 0.5526 Uncertain 3_163889384_T->C 3 163889384 163889384 T C snp 1877.77 1/1 99 68 0 68 1.0 upstream rs10936412 MIR1263 AU 0.552716 0.6687 0.486196 0.4986 0.6688 Uncertain 3_164059123_G->A 3 164059123 164059123 G A snp 1771.77 1/1 99 67 0 67 1.0 intergenic rs76722974 MIR1263 AU 0.233826 0.4335 0.157462 0.3003 0.5385 Uncertain 3_164714532_C->T 3 164714532 164714532 C T snp 708.77 1/1 54 21 0 21 1.0 exonic rs4855271 SI AR nonsynonymous SNV NM_001041 exon39 c.G4569A p.M1523I 0.909744 0.9355 0.922272 0.9106 0.9189 1 T 0.000 P -0.926 T 0.0 T 0.001 T Pathogenic 3_164733721_G->A 3 164733721 164733721 G A snp 3651.77 1/1 99 130 0 130 1.0 intronic rs2290738 SI AR NM_001041 exon17 c.36590-18G>A 0.69349 0.8621 0.713132 0.7572 0.8543 Uncertain 3_164758630_G->A 3 164758630 164758630 G A snp 690.77 1/1 51 20 0 20 1.0 intronic rs13099130 SI AR NM_001041 exon31 c.61578-97G>A 0.610623 0.8284 Uncertain 3_164760771_T->C 3 164760771 164760771 T C snp 754.77 1/1 54 29 0 29 1.0 intronic rs12381230 SI AR NM_001041 exon32 c.63697-75T>C 0.366414 0.746 Uncertain 3_164764719_C->A 3 164764719 164764719 C A snp 3503.77 1/1 99 147 1 146 0.99 exonic rs9838509 SI AR synonymous SNV NM_001041 exon16 c.G1797T p.A599A 0.608626 0.8284 0.559434 0.6098 0.8189 Uncertain 3_164766807_-->AA 3 164766807 164766807 - AA indel 736.73 1/1 42 14 0 14 1.0 intronic rs200218470 SI AR NM_001041 exon34 c.69765-107insAA 0.613419 0.8313 Uncertain 3_164766809_C->- 3 164766809 164766809 C - indel 554.73 1/1 42 14 0 14 1.0 intronic rs529412592 SI AR NM_001041 exon34 c.69765-105delC 0.613419 0.8313 Uncertain 3_164766816_C->A 3 164766816 164766816 C A snp 709.77 1/1 54 22 0 22 1.0 intronic rs9821196 SI AR NM_001041 exon34 c.69765-98C>A 0.614018 0.8304 Uncertain 3_164766835_T->C 3 164766835 164766835 T C snp 1862.77 1/1 99 54 0 54 1.0 intronic rs9841237 SI AR NM_001041 exon34 c.69765-79T>C 0.633786 0.8313 Uncertain 3_164772957_C->T 3 164772957 164772957 C T snp 1081.77 1/1 78 38 0 38 1.0 intronic rs9290256 SI AR NM_001041 exon36 c.75832-24C>T 0.61901 0.8313 0.562048 0.6139 0.8209 Uncertain 3_164773057_G->A 3 164773057 164773057 G A snp 1176.77 1/1 84 44 0 44 1.0 exonic rs9290257 SI AR synonymous SNV NM_001041 exon13 c.C1437T p.N479N 0.61901 0.8313 0.561971 0.6138 0.8209 Uncertain 3_164776913_-->AT 3 164776913 164776913 - AT indel 10950.7 1/1 99 206 0 206 1.0 intronic rs60170840 SI AR NM_001041 exon38 c.79806-42insAT 0.61881 0.8313 0.561502 0.6120 0.8192 Uncertain 3_164777677_T->G 3 164777677 164777677 T G snp 2141.77 1/1 99 84 1 83 0.99 intronic rs9290259 SI AR NM_001041 exon39 c.80540-12T>G 0.617212 0.8313 0.560664 0.6138 0.8206 Uncertain 3_164781368_G->A 3 164781368 164781368 G A snp 275.8 1/1 21 11 0 11 1.0 intronic rs11718901 SI AR NM_001041 exon41 c.84180+39G>A 0.61901 0.8313 0.564041 0.6129 0.8180 Uncertain 3_164783165_T->C 3 164783165 164783165 T C snp 1198.77 1/1 84 48 0 48 1.0 exonic rs9283633 SI AR nonsynonymous SNV NM_001041 exon7 c.A691G p.T231A 0.616014 0.8323 0.558204 0.6135 0.8220 0.12 T 0.094 P -0.963 T 0.004 T 0.008 T Pathogenic 3_164785338_G->A 3 164785338 164785338 G A snp 438.77 1/1 33 12 0 12 1.0 intronic rs9865476 SI AR NM_001041 exon43 c.88130+59G>A 0.635982 0.8323 Uncertain 3_164786382_C->A 3 164786382 164786382 C A snp 1011.77 1/1 75 28 0 28 1.0 intronic rs9758479 SI AR NM_001041 exon44 c.89360-127C>A 0.619609 0.8333 Uncertain 3_164786396_T->C 3 164786396 164786396 T C snp 1228.77 1/1 90 35 0 35 1.0 intronic rs9754967 SI AR NM_001041 exon44 c.89360-113T>C 0.619609 0.8333 Uncertain 3_164786413_A->G 3 164786413 164786413 A G snp 1879.77 1/1 99 60 1 59 0.98 intronic rs9756068 SI AR NM_001041 exon44 c.89360-96A>G 0.619409 0.8323 Uncertain 3_164786506_G->A 3 164786506 164786506 G A snp 1481.77 0/1 99 168 105 63 0.38 splicing rs13086543 SI AR NM_001041 exon44 c.89360-3G>A 0.0171725 0.002 0.020221 0.0051 0.0037 Pathogenic 3_164786630_A->- 3 164786630 164786630 A - indel 2187.73 1/1 99 77 0 77 1.0 intronic rs11313475 SI AR NM_001041 exon44 c.89470+11delA 0.636182 0.8323 0.582734 0.6198 0.8221 Uncertain 3_164793541_G->T 3 164793541 164793541 G T snp 185.9 1/1 15 7 0 7 1.0 intronic rs7432386 SI AR NM_001041 exon47 c.96533-141G>T 0.636182 0.8323 Uncertain 3_164906806_T->C 3 164906806 164906806 T C snp 2001.77 0/1 99 160 79 81 0.51 exonic rs3828419 SLITRK3 AU nonsynonymous SNV NM_014926 exon2 c.A1813G p.I605V 0.0640974 0.1171 0.020068 0.0430 0.1219 0.4 T 0.000 P -1.052 T 0.0 T 0.0 T Pathogenic 3_166958824_A->G 3 166958824 166958824 A G snp 546.77 1/1 42 15 0 15 1.0 intronic rs9683261 ZBBX AU NM_024687 exon1 c.127+117A>G 0.778355 0.8254 Uncertain 3_166966436_C->T 3 166966436 166966436 C T snp 1467.77 1/1 99 61 0 61 1.0 intronic rs60512741 ZBBX AU NM_024687 exon2 c.1851+6005C>T 0.397165 0.6409 0.3573 0.5895 Uncertain 3_167000256_G->C 3 167000256 167000256 G C snp 3497.77 1/1 99 132 0 132 1.0 exonic rs12638625 ZBBX AU nonsynonymous SNV NM_001199202 exon19 c.C1820G p.A607G 0.291575 0.3471 0.6366 0.16 T 0.000 P -1.024 T 0.221 T 0.161 T Pathogenic 3_167006568_G->T 3 167006568 167006568 G T snp 4023.77 1/1 99 132 0 132 1.0 intronic rs7625639 ZBBX AU NM_001199201 exon4 c.48074-86G>T 0.395168 0.6379 Uncertain 3_167006612_G->T 3 167006612 167006612 G T snp 6757.77 1/1 99 250 2 248 0.99 intronic rs7625651 ZBBX AU NM_001199201 exon4 c.48074-42G>T 0.395168 0.6379 0.3429 0.6157 Uncertain 3_167035501_G->A 3 167035501 167035501 G A snp 508.77 1/1 39 13 0 13 1.0 intronic rs4580553 ZBBX AU NM_024687 exon9 c.76805+116G>A 0.856629 0.8998 Uncertain 3_167040185_A->C 3 167040185 167040185 A C snp 141.03 1/1 12 5 0 5 1.0 intronic rs12632964 ZBBX AU NM_024687 exon10 c.81445+160A>C 0.428914 0.6399 Uncertain 3_167051726_A->G 3 167051726 167051726 A G snp 868.77 1/1 63 35 0 35 1.0 exonic rs10936530 ZBBX AU synonymous SNV NM_001199201 exon10 c.T576C p.F192F 0.460463 0.6637 0.358080 0.3812 0.6599 Uncertain 3_167077691_T->A 3 167077691 167077691 T A snp 1518.77 1/1 99 62 0 62 1.0 exonic rs4257551 ZBBX AU synonymous SNV NM_001199201 exon8 c.A399T p.V133V 0.999401 1 0.996020 0.9971 1 Uncertain 3_167078544_T->C 3 167078544 167078544 T C snp 622.77 1/1 45 23 0 23 1.0 intronic rs9834845 ZBBX AU NM_024687 exon15 c.119931+33T>C 0.539936 0.8442 0.431877 0.4951 0.8439 Uncertain 3_167284676_G->A 3 167284676 167284676 G A snp 390.77 0/1 99 29 12 17 0.59 intronic rs76506630 WDR49 AU NM_178824 exon11 c.81351+6660G>A 0.0365415 0.0506 0.0102 0.0707 0 D 1 N Uncertain 3_167320010_T->C 3 167320010 167320010 T C snp 2658.77 0/1 99 229 108 121 0.53 exonic rs75218075 WDR49 AU nonsynonymous SNV NM_178824 exon3 c.A157G p.K53E 0.0726837 0.2034 0.022759 0.0228 0.1678 0.17 T 0.744 D -1.063 T 0.997 D 0.905 D Pathogenic 3_167322307_G->A 3 167322307 167322307 G A snp 68.77 0/1 97 10 7 3 0.3 intronic rs80264027 WDR49 AU NM_178824 exon14 c.125591+51G>A 0.0451278 0.2034 Uncertain 3_167351418_T->C 3 167351418 167351418 T C snp 646.77 0/1 99 56 32 24 0.43 intronic rs9845725 WDR49 AU NM_178824 exon15 c.174383-19630T>C 0.555911 0.4187 Uncertain 3_167371286_G->A 3 167371286 167371286 G A snp 1036.77 0/1 99 66 31 35 0.53 UTR5 rs80154024 WDR49 AU 0.0333466 0.1091 Uncertain 3_167727884_C->T 3 167727884 167727884 C T snp 239.77 0/1 99 15 6 9 0.6 UTR3 rs73037443 GOLIM4 AU 0.224241 0.1339 Uncertain 3_167728445_G->C 3 167728445 167728445 G C snp 1623.77 0/1 99 126 66 60 0.48 intronic rs57405643 GOLIM4 AU NM_014498 exon2 c.474-85G>C 0.224042 0.1339 Uncertain 3_167728696_G->C 3 167728696 167728696 G C snp 617.77 0/1 99 49 25 24 0.49 intronic rs56801598 GOLIM4 AU NM_014498 exon2 c.555+85G>C 0.224042 0.1339 Uncertain 3_168530440_G->A 3 168530440 168530440 G A snp 173.77 0/1 99 17 10 7 0.41 ncRNA_intronic rs3732462 EGFEM1P AU 0.0395367 0.0823 Uncertain 3_168530459_A->G 3 168530459 168530459 A G snp 182.9 1/1 15 5 0 5 1.0 ncRNA_intronic rs595594 EGFEM1P AU 0.517173 0.878 Uncertain 3_168538993_A->G 3 168538993 168538993 A G snp 2788.77 1/1 99 105 0 105 1.0 ncRNA_exonic rs603638 EGFEM1P AU 0.853235 0.9603 0.7907 0.9559 Uncertain 3_168542454_-->CACA 3 168542454 168542454 - CACA indel 1423.73 ./1 99 41 4 37 0.9 ncRNA_intronic EGFEM1P AU Uncertain 3_168542454_-->CA 3 168542454 168542454 - CA indel 1423.73 ./1 99 41 4 37 0.9 ncRNA_intronic rs145528794 EGFEM1P AU Uncertain 3_168542733_G->A 3 168542733 168542733 G A snp 694.77 0/1 99 70 40 30 0.43 ncRNA_intronic rs12636130 EGFEM1P AU 0.196486 0.5734 0.1019 0.5859 Uncertain 3_168546914_C->T 3 168546914 168546914 C T snp 4800.77 1/1 99 180 0 180 1.0 ncRNA_exonic rs678690 EGFEM1P AU 0.521565 0.878 0.4982 0.8382 Uncertain 3_168810980_C->T 3 168810980 168810980 C T snp 756.77 0/1 99 49 26 23 0.47 intronic rs12634348 MECOM AD NM_005241 exon4 c.8194+90C>T 0.33726 0.37 Uncertain 3_168819788_A->G 3 168819788 168819788 A G snp 99.28 1/1 9 3 0 3 1.0 intronic rs9290358 MECOM AD NM_005241 exon7 c.17151-59A>G 0.943291 0.994 Uncertain 3_168840571_A->T 3 168840571 168840571 A T snp 1764.77 1/1 99 53 0 53 1.0 intronic rs3851380 MECOM AD NM_005241 exon12 c.37819+56A>T 0.957668 0.994 Uncertain 3_168840607_C->T 3 168840607 168840607 C T snp 559.77 1/1 42 17 0 17 1.0 intronic rs3851381 MECOM AD NM_005241 exon12 c.37819+92C>T 0.98762 1 Uncertain 3_168851934_G->A 3 168851934 168851934 G A snp 73.77 0/1 99 13 8 5 0.38 intronic rs6773653 MECOM AD NM_005241 exon14 c.46623+2615G>A 0.204473 0.1587 Uncertain 3_168862970_ACACACACAGAG->- 3 168862970 168862981 ACACACACAGAG - indel 1364.87 0/1 15 18 2 16 0.89 intronic rs201958382 MECOM AD NM_001105077 exon16 c.60150+124_60150+135delACACACACAGAG Uncertain 3_169098992_G->A 3 169098992 169098992 G A snp 2803.77 0/1 99 250 132 118 0.47 exonic rs7622799 MECOM AD nonsynonymous SNV NM_004991 exon2 c.C358T p.P120S 0.152955 0.1558 0.118529 0.1333 0.1634 0.11 T 1.0 P -1.081 T 0.275 T 0.096 T Pathogenic 3_169283921_C->T 3 169283921 169283921 C T snp 166.77 0/1 66 10 3 7 0.7 intronic rs3863106 MECOM AD NM_001205194 exon16 c.578427-97202C>T 0.154952 0.1647 Uncertain 3_169482335_T->C 3 169482335 169482335 T C snp 46.79 0/1 23 3 1 2 0.67 downstream rs2293607 TERC AD 0.269768 0.5744 ID=CR109912;DIS=Shorter telomere length, association with;TAG=DP;PUB=20885959 DP Uncertain 3_169486144_A->G 3 169486144 169486144 A G snp 884.77 0/1 99 82 47 35 0.43 splicing rs9822885 ACTRT3 AU NM_032487 exon1 c.919+6A>G 0.428714 0.6815 0.308627 0.3607 0.6946 Pathogenic 3_169486271_C->A 3 169486271 169486271 C A snp 74.77 0/1 99 6 3 3 0.5 intronic rs9860874 ACTRT3 AU NM_032487 exon1 c.919+133C>A 0.428714 0.6815 Uncertain 3_169487437_G->A 3 169487437 169487437 G A snp 41.77 0/1 66 4 2 2 0.5 UTR5 rs12637184 ACTRT3 AU 0.270367 0.5774 Uncertain 3_169492016_-->A 3 169492016 169492016 - A indel 1137.73 0/1 99 58 26 32 0.55 intronic rs34847803 MYNN AU 0.270567 0.5784 Uncertain 3_169492101_C->T 3 169492101 169492101 C T snp 2544.77 0/1 99 229 118 111 0.48 exonic rs10936599 MYNN AU synonymous SNV NM_001185119 exon1 c.C18T p.H6H 0.270567 0.5784 0.187068 0.2818 0.5635 Uncertain 3_169500487_G->A 3 169500487 169500487 G A snp 85.77 0/1 99 15 10 5 0.33 intronic rs3772190 MYNN AU NM_018657 exon5 c.8348+56G>A 0.266973 0.5774 Uncertain 3_169514585_A->T 3 169514585 169514585 A T snp 1238.77 0/1 99 116 60 56 0.48 exonic rs10936600 LRRC34 AU nonsynonymous SNV NM_153353 exon7 c.T760A p.L254I 0.272963 0.5784 0.196140 0.2834 0.5640 0.44 T 0.046 P -0.919 T 1.0 D 0.994 D Pathogenic 3_169518455_T->C 3 169518455 169518455 T C snp 317.77 0/1 99 39 24 15 0.38 exonic rs6793295 LRRC34 AU nonsynonymous SNV NM_001172779 exon7 c.A745G p.S249G 0.421326 0.6835 0.3414 0.7172 0.51 T 0.000 P -0.975 T 0.001 T 0.001 T Pathogenic 3_169526272_T->C 3 169526272 169526272 T C snp 285.77 0/1 99 22 13 9 0.41 intronic rs28626343 LRRC34 AU NM_001172780 exon8 c.12436-143T>C 0.267572 0.5794 Uncertain 3_169539649_T->A 3 169539649 169539649 T A snp 718.77 1/1 54 18 0 18 1.0 upstream rs7628572 LRRIQ4 AU 0.59984 0.756 Uncertain 3_169540397_T->C 3 169540397 169540397 T C snp 8093.77 1/1 99 250 0 250 1.0 exonic rs1920119 LRRIQ4 AU synonymous SNV NM_001080460 exon1 c.T688C p.L230L 0.595647 0.7579 0.464700 0.5005 0.7466 Uncertain 3_169546730_C->T 3 169546730 169546730 C T snp 1444.77 0/1 99 107 49 58 0.54 intronic rs149140811 LRRIQ4 AU NM_001080460 exon2 c.7011+10C>T 0.00778754 0.0357 0.000251 0.0030 0.0371 Uncertain 3_169548535_C->A 3 169548535 169548535 C A snp 646.77 0/1 99 27 5 22 0.81 intronic rs58497965 LRRIQ4 AU NM_001080460 exon3 c.8709+117C>A 0.0778754 0.3026 Uncertain 3_169550759_G->A 3 169550759 169550759 G A snp 3187.75 1/1 99 100 0 100 1.0 intronic rs12486767 LRRIQ4 AU NM_001080460 exon4 c.11065-15G>A 0.557508 0.752 0.408339 0.4734 0.7392 Uncertain 3_169555163_TC->- 3 169555163 169555164 TC - indel 2663.73 1/1 99 56 0 56 1.0 intronic rs560707911 LRRIQ4 AU NM_001080460 exon5 c.15557-103_15557-102delTC 0.351238 0.6389 Uncertain 3_169558025_C->T 3 169558025 169558025 C T snp 4668.77 1/1 99 170 2 168 0.99 exonic rs3732451 LRRC31 AU synonymous SNV NM_001277128 exon8 c.G1236A p.A412A 0.558906 0.754 0.410008 0.4690 0.7398 Uncertain 3_169566090_A->G 3 169566090 169566090 A G snp 3760.77 1/1 99 134 0 134 1.0 intronic rs9290375 LRRC31 AU NM_024727 exon2 c.8306+15A>G 0.558906 0.754 0.412374 0.4734 0.7404 Uncertain 3_169566247_T->C 3 169566247 169566247 T C snp 175.9 1/1 15 5 0 5 1.0 intronic rs11717389 LRRC31 AU NM_024727 exon2 c.8306+172T>C 0.331669 0.6389 Uncertain 3_169574465_T->G 3 169574465 169574465 T G snp 3456.77 1/1 99 128 0 128 1.0 intronic rs11919269 LRRC31 AU NM_024727 exon6 c.16723-27T>G 0.355431 0.6419 0.257194 0.3491 0.6277 Uncertain 3_169587741_G->C 3 169587741 169587741 G C snp 46.77 0/1 31 3 1 2 0.67 upstream rs2276718 LRRC31 AU 0.292732 0.0913 Uncertain 3_169639321_C->G 3 169639321 169639321 C G snp 292.78 1/1 24 8 0 8 1.0 intronic rs1990804 SAMD7 AU NM_001304366 exon4 c.1840+195C>G 0.771965 0.8393 Uncertain 3_169801658_G->A 3 169801658 169801658 G A snp 466.77 1/1 36 13 0 13 1.0 intronic rs6444895 GPR160 AU 0.507588 0.6954 Uncertain 3_169894680_G->A 3 169894680 169894680 G A snp 1256.77 1/1 90 47 0 47 1.0 intronic rs1386333 PHC3 AU NM_024947 exon14 c.81543-1880G>A 0.500799 0.6964 0.3868 0.75 Uncertain 3_170078232_C->T 3 170078232 170078232 C T snp 7209.77 1/1 99 247 1 246 1.0 exonic rs3772173 SKIL AU nonsynonymous SNV NM_005414 exon2 c.C113T p.A38V 0.690296 0.8383 0.719975 0.7803 0.8335 1 T 0.405 P -0.902 T 0.001 T 0.002 T Pathogenic 3_170099219_TTAT->- 3 170099219 170099222 TTAT - indel 521.73 0/1 99 24 8 16 0.67 intronic rs146524896 SKIL AU NM_001145098 exon4 c.20950+90_20950+93delTTAT ID=COSN168973;OCCURENCE=1(large_intestine) Likely pathogenic 3_170105233_C->T 3 170105233 170105233 C T snp 1749.77 1/1 99 51 0 51 1.0 intronic rs6786374 SKIL AU NM_001145098 exon5 c.24374+2680C>T 0.723442 0.8383 Uncertain 3_170105378_C->T 3 170105378 170105378 C T snp 2478.77 1/1 99 88 0 88 1.0 intronic rs6786542 SKIL AU NM_001145098 exon6 c.29831-2632C>T 0.752995 0.9345 Uncertain 3_170140846_A->G 3 170140846 170140846 A G snp 40.74 1/1 6 2 0 2 1.0 intronic rs2111826 CLDN11 AU NM_005602 exon2 c.4096-104A>G 0.941094 0.994 0.9117 0.9935 Uncertain 3_170197954_T->G 3 170197954 170197954 T G snp 615.77 1/1 45 20 0 20 1.0 intronic rs989997 SLC7A14 AR NM_020949 exon2 c.13235-123T>G 0.474441 0.4673 Uncertain 3_170198181_A->C 3 170198181 170198181 A C snp 996.77 0/1 99 103 59 44 0.43 exonic rs147757465 SLC7A14 AR synonymous SNV NM_020949 exon7 c.T1890G p.P630P 0.0061901 0.0298 0.000308 0.0017 0.0219 Uncertain 3_170198967_G->A 3 170198967 170198967 G A snp 2023.77 1/1 99 62 0 62 1.0 intronic rs1861939 SLC7A14 AR NM_020949 exon2 c.14113+12G>A 0.440895 0.4673 0.494080 0.5694 0.4706 Uncertain 3_170825905_C->G 3 170825905 170825905 C G snp 2593.77 1/1 99 93 0 93 1.0 exonic rs6444960 TNIK AR synonymous SNV NM_001161565 exon18 c.G2079C p.A693A 0.989217 1 0.980270 0.9806 1 Uncertain 3_170857168_CACACA->- 3 170857168 170857173 CACACA - indel 459.73 0/1 99 21 10 11 0.52 intronic TNIK AR NM_001161564 exon18 c.75589-90_75589-85delCACACA Uncertain 3_170858406_T->G 3 170858406 170858406 T G snp 1367.77 0/1 99 109 47 62 0.57 intronic rs2292006 TNIK AR NM_001161566 exon18 c.76629+108T>G 0.701877 0.5625 Uncertain 3_170885097_C->T 3 170885097 170885097 C T snp 1253.77 1/1 93 32 0 32 1.0 intronic rs2292005 TNIK AR NM_001161566 exon21 c.103390+38C>T 0.56869 0.8532 0.494340 0.5825 0.8486 Uncertain 3_170893070_G->A 3 170893070 170893070 G A snp 2581.77 1/1 99 92 0 92 1.0 exonic rs12637875 TNIK AR synonymous SNV NM_001161560 exon9 c.C744T p.N248N 0.56889 0.874 0.483215 0.5853 0.8625 Uncertain 3_170912469_T->A 3 170912469 170912469 T A snp 1192.77 0/1 99 113 64 49 0.43 intronic rs6773641 TNIK AR NM_001161566 exon26 c.130755+45T>A 0.430711 0.5446 0.317986 0.3635 0.5558 Uncertain 3_170928797_T->C 3 170928797 170928797 T C snp 652.77 1/1 48 19 0 19 1.0 intronic rs6444972 TNIK AR NM_001161566 exon27 c.147235-107T>C 0.798323 0.8938 Uncertain 3_170928820_-->T 3 170928820 170928820 - T indel 326.73 0/1 99 27 15 12 0.44 intronic rs11400262 TNIK AR NM_001161566 exon27 c.147235-84insT 0.304912 0.4802 Uncertain 3_170946002_A->G 3 170946002 170946002 A G snp 2429.77 0/1 99 238 134 104 0.44 exonic rs17217552 TNIK AR synonymous SNV NM_001161560 exon3 c.T132C p.H44H 0.117212 0.2421 0.058300 0.0596 0.2606 Uncertain 3_171065010_-->A 3 171065010 171065010 - A indel 620.73 0/1 61 90 12 78 0.87 intronic rs3082367 TNIK AR NM_001161566 exon29 c.305739-22398insA 0.3850 0.4477 Uncertain 3_171065031_G->C 3 171065031 171065031 G C snp 1810.77 1/1 99 70 0 70 1.0 intronic rs1389047 TNIK AR NM_001161566 exon29 c.305739-22377G>C 0.997604 1 0.9943 1 Uncertain 3_171338237_T->G 3 171338237 171338237 T G snp 1354.77 1/1 99 50 0 50 1.0 exonic rs9881788 PLD1 AU synonymous SNV NM_001130081 exon23 c.A2553C p.V851V 0.473243 0.3562 0.509150 0.4496 0.3842 1.0 P Uncertain 3_171362977_A->G 3 171362977 171362977 A G snp 164.9 1/1 15 5 0 5 1.0 intronic rs360399 PLD1 AU NM_002662 exon6 c.41946+164A>G 0.775759 0.5843 Uncertain 3_171377241_A->T 3 171377241 171377241 A T snp 43.77 0/1 72 4 2 2 0.5 intronic rs1378242 PLD1 AU NM_002662 exon7 c.56224+150A>T 0.460863 0.3175 Uncertain 3_171394825_C->T 3 171394825 171394825 C T snp 44.77 0/1 33 3 1 2 0.67 intronic rs9869289 PLD1 AU NM_002662 exon10 c.73756+202C>T 0.464058 0.3234 Uncertain 3_171395468_A->G 3 171395468 171395468 A G snp 1948.77 0/1 99 164 75 89 0.54 exonic rs2124147 PLD1 AU synonymous SNV NM_001130081 exon16 c.T1770C p.R590R 0.464657 0.3234 0.509765 0.4467 0.3459 0.92 T 0.001 P -0.972 T Likely benign 3_171405384_A->T 3 171405384 171405384 A T snp 176.77 0/1 99 17 10 7 0.41 intronic rs2305547 PLD1 AU NM_002662 exon13 c.84507+10A>T 0.463458 0.3224 0.404352 0.4401 0.3414 Uncertain 3_171405424_G->A 3 171405424 171405424 G A snp 120.03 1/1 12 4 0 4 1.0 intronic rs2305548 PLD1 AU NM_002662 exon13 c.84507+50G>A 0.408147 0.3214 0.439108 0.4266 0.3438 Uncertain 3_171442387_T->G 3 171442387 171442387 T G snp 152.77 0/1 99 11 5 6 0.55 intronic rs73879819 PLD1 AU NM_002662 exon20 c.121618-98T>G 0.30611 0.1944 Uncertain 3_171442635_C->T 3 171442635 171442635 C T snp 2948.77 0/1 99 243 121 122 0.5 intronic rs7647840 PLD1 AU NM_002662 exon20 c.121711+57C>T 0.30611 0.1944 Uncertain 3_171442751_G->- 3 171442751 171442751 G - indel 1428.73 0/1 99 70 31 39 0.56 intronic rs10710862 PLD1 AU NM_002662 exon20 c.121711+173delG 0.30611 0.1944 Uncertain 3_171443607_C->G 3 171443607 171443607 C G snp 104.77 0/1 99 12 8 4 0.33 intronic rs4131284 PLD1 AU NM_002662 exon21 c.122940-200C>G 0.313898 0.1944 Uncertain 3_171443955_T->A 3 171443955 171443955 T A snp 221.77 0/1 99 20 11 9 0.45 intronic rs4131283 PLD1 AU NM_002662 exon21 c.122999+89T>A 0.30611 0.1944 Uncertain 3_171510238_C->T 3 171510238 171510238 C T snp 826.77 0/1 99 93 52 41 0.44 intronic rs3934620 PLD1 AU NM_002662 exon27 c.207321-17950C>T 0.265775 0.2272 0.3678 0.2051 0 D 0.000 P -0.988 T Uncertain 3_171844787_A->T 3 171844787 171844787 A T snp 2301.77 0/1 99 248 136 112 0.45 intronic rs4894810 FNDC3B AU NM_022763 exon3 c.20991-6473A>T 0.602636 0.7679 0.6267 0.7525 Uncertain 3_171969077_C->G 3 171969077 171969077 C G snp 684.77 0/1 99 77 50 27 0.35 exonic rs7652177 FNDC3B AU nonsynonymous SNV NM_001135095 exon6 c.C536G p.T179S 0.644768 0.5536 0.614639 0.5509 0.5061 0.83 T 1.0 P -0.984 T 0.0 T 0.0 T Pathogenic 3_172034350_T->C 3 172034350 172034350 T C snp 581.77 1/1 45 17 0 17 1.0 intronic rs4894416 FNDC3B AU NM_022763 exon11 c.198402+5679T>C 0.145567 0.2897 Uncertain 3_172034901_T->G 3 172034901 172034901 T G snp 2222.77 1/1 99 86 0 86 1.0 intronic rs34251104 FNDC3B AU NM_022763 exon11 c.198402+6230T>G 0.15615 0.3026 Uncertain 3_172046861_T->C 3 172046861 172046861 T C snp 3825.77 1/1 99 159 0 159 1.0 exonic rs2270568 FNDC3B AU synonymous SNV NM_001135095 exon12 c.T1374C p.G458G 0.578674 0.5109 0.509227 0.4881 0.5476 Uncertain 3_172046933_A->G 3 172046933 172046933 A G snp 2352.77 1/1 99 80 0 80 1.0 intronic rs6799133 FNDC3B AU NM_022763 exon12 c.216597+67A>G 0.622604 0.5387 Uncertain 3_172059121_G->A 3 172059121 172059121 G A snp 1003.77 1/1 72 33 0 33 1.0 intronic rs570549 FNDC3B AU NM_022763 exon17 c.228752+100G>A 0.642372 0.8006 Uncertain 3_172099011_A->G 3 172099011 172099011 A G snp 755.77 1/1 57 20 0 20 1.0 intronic rs9853174 FNDC3B AU NM_022763 exon25 c.268614+128A>G 0.287141 0.5942 Uncertain 3_172162837_T->C 3 172162837 172162837 T C snp 564.77 1/1 45 18 0 18 1.0 UTR3 rs477251 GHSR AR,AD 0.819089 0.994 Uncertain 3_172166033_G->A 3 172166033 172166033 G A snp 3025.77 0/1 99 231 109 122 0.53 exonic rs495225 GHSR AR,AD synonymous SNV NM_198407 exon1 c.C171T p.G57G 0.540136 0.619 0.636881 0.6555 0.6488 Uncertain 3_172224303_A->G 3 172224303 172224303 A G snp 3062.77 1/1 99 116 0 116 1.0 exonic rs1131532 TNFSF10 AU synonymous SNV NM_003810 exon5 c.T825C p.F275F 0.667732 0.619 0.712440 0.6614 0.5998 Uncertain 3_172224770_C->- 3 172224770 172224770 C - indel 1949.73 1/1 99 65 0 65 1.0 intronic rs111284464 TNFSF10 AU NM_003810 exon1 c.428+61delC 0.663339 0.6438 Uncertain 3_172224771_T->A 3 172224771 172224771 T A snp 1581.77 0/1 86 62 8 54 0.87 intronic rs17848019 TNFSF10 AU NM_003810 exon1 c.428+62T>A 0.663339 0.6438 Uncertain 3_172227199_C->T 3 172227199 172227199 C T snp 343.77 0/1 99 29 15 14 0.48 intronic rs3815496 TNFSF10 AU NM_003810 exon2 c.2830+88C>T 0.683107 0.6895 Uncertain 3_172236440_T->G 3 172236440 172236440 T G snp 155.77 0/1 99 9 4 5 0.56 intronic rs231983 TNFSF10 AU NM_001190943 exon1 c.66+185T>G 0.595647 0.8403 Uncertain 3_172353572_A->G 3 172353572 172353572 A G snp 128.03 1/1 12 4 0 4 1.0 intronic rs234012 NCEH1 AU NM_001146276 exon2 c.2441-133A>G 0.414736 0.3065 Uncertain 3_172428508_C->T 3 172428508 172428508 C T snp 1443.77 1/1 99 49 0 49 1.0 intronic rs7629698 NCEH1 AU NM_001146276 exon5 c.77372-128C>T 0.897764 0.998 Uncertain 3_172428782_T->C 3 172428782 172428782 T C snp 2093.77 0/1 99 173 81 92 0.53 exonic rs2276805 NCEH1 AU nonsynonymous SNV NM_001146276 exon1 c.A89G p.Q30R 0.542332 0.7183 0.537604 0.6523 0.6902 1 T 0.000 P -0.970 T 0.0 T 0.0 T Pathogenic 3_172473484_A->G 3 172473484 172473484 A G snp 88.77 0/1 72 8 3 5 0.63 intronic rs1403088 ECT2 AU NM_001258315 exon4 c.1045+119A>G 0.476637 0.7034 Uncertain 3_172501443_A->C 3 172501443 172501443 A C snp 56.74 1/1 6 2 0 2 1.0 intronic rs7649589 ECT2 AU NM_001258316 exon16 c.29268-145A>C 0.46246 0.7044 Uncertain 3_172501589_-->C 3 172501589 172501589 - C indel 1185.73 0/1 99 87 52 35 0.4 exonic ECT2 AU frameshift insertion NM_018098 exon15 c.1526dupC p.S509fs Pathogenic 3_172520396_TA->- 3 172520396 172520397 TA - indel 443.73 0/1 99 30 19 11 0.37 intronic rs371466562 ECT2 AU NM_001258316 exon19 c.48085-9_48085-8delTA 0.000243 0.0004 0.0046 Uncertain 3_172520818_G->C 3 172520818 172520818 G C snp 120.77 0/1 99 14 7 7 0.5 intronic rs7644191 ECT2 AU NM_001258316 exon20 c.48450+48G>C 0.836062 0.8522 0.881286 0.9024 0.8500 Uncertain 3_172534428_C->T 3 172534428 172534428 C T snp 691.77 0/1 99 53 27 26 0.49 intronic rs10936738 ECT2 AU NM_001258316 exon24 c.62160-52C>T 0.617412 0.8452 Uncertain 3_172537850_T->G 3 172537850 172537850 T G snp 406.77 0/1 99 36 17 19 0.53 intronic rs35236458 ECT2 AU NM_001258316 exon25 c.65617-87T>G 0.464257 0.7044 Uncertain 3_172634025_-->TG 3 172634025 172634025 - TG indel 1163.82 1/1 17 32 4 28 0.88 intronic rs11371458 SPATA16 AR NM_031955 exon3 c.26747-81insTG 0.401558 0.5427 Uncertain 3_172835082_C->T 3 172835082 172835082 C T snp 2384.77 0/1 99 219 123 96 0.44 exonic rs16846616 SPATA16 AR nonsynonymous SNV NM_031955 exon2 c.G440A p.G147E 0.136981 0.3065 0.092957 0.1287 0.3106 0.02 T 0.0 P -0.982 T 0.002 T 0.007 T Pathogenic 3_172835125_T->C 3 172835125 172835125 T C snp 2354.77 0/1 99 211 112 99 0.47 exonic rs1515442 SPATA16 AR nonsynonymous SNV NM_031955 exon2 c.A397G p.M133V 0.428514 0.374 0.404121 0.3196 0.3859 0.19 T 0.000 P -1.032 T 0.0 T 0.0 T Pathogenic 3_172835290_C->T 3 172835290 172835290 C T snp 2617.77 0/1 99 248 138 110 0.44 exonic rs1515441 SPATA16 AR nonsynonymous SNV NM_031955 exon2 c.G232A p.E78K 0.170727 0.3095 0.115946 0.1434 0.3111 0.07 T 0.006 P -0.910 T 0.634 T 0.167 P Pathogenic 3_173322248_T->C 3 173322248 173322248 T C snp 879.77 1/1 66 26 0 26 1.0 UTR5 rs3844523 NLGN1 AU 0.747005 0.7887 Uncertain 3_173323278_A->G 3 173323278 173323278 A G snp 778.77 0/1 99 86 52 34 0.4 intronic rs3853390 NLGN1 AU NM_014932 exon3 c.493+397A>G 0.164537 0.1825 0.1921 0.1584 Uncertain 3_173507805_C->G 3 173507805 173507805 C G snp 878.77 0/1 99 50 22 28 0.56 intronic rs144626411 NLGN1 AU NM_014932 exon4 c.203081-17664C>G 0.00579073 0.0288 Uncertain 3_173992971_A->G 3 173992971 173992971 A G snp 216.84 1/1 18 6 0 6 1.0 intronic rs691120 NLGN1 AU NM_014932 exon5 c.670716-133A>G 0.582867 0.6776 Uncertain 3_174581888_T->C 3 174581888 174581888 T C snp 2697.77 0/1 99 230 111 119 0.52 intronic rs6445184 NAALADL2 AU NM_207015 exon1 c.43+4648T>C 0.755591 0.8333 0.6557 0.7653 Uncertain 3_174814738_G->A 3 174814738 174814738 G A snp 1759.77 0/1 99 129 58 71 0.55 exonic rs9823911 NAALADL2 AU nonsynonymous SNV NM_207015 exon2 c.G202A p.G68S 0.377995 0.4375 0.350125 0.3835 0.4464 1 T 0.0 P -0.918 T 0.0 T 0.001 T Pathogenic 3_174814920_A->G 3 174814920 174814920 A G snp 2357.77 0/1 99 248 144 104 0.42 exonic rs9836841 NAALADL2 AU nonsynonymous SNV NM_207015 exon2 c.A384G p.I128M 0.396366 0.4375 0.398195 0.4223 0.4468 0.13 T 0.0 P -0.906 T 0.083 T 0.017 T Pathogenic 3_174935828_C->T 3 174935828 174935828 C T snp 232.77 0/1 99 30 19 11 0.37 intronic rs34537026 NAALADL2 AU NM_207015 exon3 c.374523-15892C>T 0.184105 0.2599 Uncertain 3_174951756_T->C 3 174951756 174951756 T C snp 782.77 0/1 99 86 50 36 0.42 exonic rs4371530 NAALADL2 AU nonsynonymous SNV NM_207015 exon3 c.T581C p.M194T 0.638778 0.6181 0.700456 0.6928 0.6729 0 D 0.0 P -0.953 T 0.0 T 0.006 T Pathogenic 3_174974177_C->G 3 174974177 174974177 C G snp 496.77 0/1 99 29 9 20 0.69 ncRNA_intronic rs13072102 NAALADL2-AS2 AU 0.247404 0.3343 0.259341 0.3233 0.3839 Uncertain 3_175087275_A->G 3 175087275 175087275 A G snp 99.28 1/1 9 4 0 4 1.0 intronic rs9869507 NAALADL2 AU NM_207015 exon5 c.464917+45161A>G 0.560903 0.6726 Uncertain 3_175164937_A->G 3 175164937 175164937 A G snp 444.77 0/1 99 42 24 18 0.43 intronic rs79180420 NAALADL2 AU NM_207015 exon6 c.587819-79A>G 0.0848642 0.1498 Uncertain 3_175165079_C->T 3 175165079 175165079 C T snp 5843.77 1/1 99 217 0 217 1.0 exonic rs6802937 NAALADL2 AU nonsynonymous SNV NM_207015 exon6 c.C1153T p.P385S 1 1 0.999501 0.9990 1 0.8 T 0.0 P -0.951 T 0.0 T 0.0 T Pathogenic 3_175165201_T->G 3 175165201 175165201 T G snp 2403.77 1/1 99 77 0 77 1.0 intronic rs2161041 NAALADL2 AU NM_207015 exon6 c.587963+41T>G 0.834665 0.9663 0.799316 0.8349 0.9594 Uncertain 3_175181067_T->C 3 175181067 175181067 T C snp 93.28 1/1 9 3 0 3 1.0 intronic rs16848171 NAALADL2 AU NM_207015 exon7 c.603991-121T>C 0.115415 0.244 Uncertain 3_175181115_A->- 3 175181115 175181115 A - indel 199.8 1/1 18 6 0 6 1.0 intronic rs147685357 NAALADL2 AU NM_207015 exon7 c.603991-73delA 0.115415 0.244 Uncertain 3_175189407_T->- 3 175189407 175189407 T - indel 1634.73 1/1 99 63 3 60 0.95 intronic rs35213579 NAALADL2 AU NM_207015 exon9 c.612229-19delT 0.790935 0.8145 0.8828 0.9693 Uncertain 3_175189447_G->A 3 175189447 175189447 G A snp 1779.77 0/1 99 145 66 79 0.54 exonic rs9290555 NAALADL2 AU synonymous SNV NM_207015 exon9 c.G1554A p.Q518Q 0.547125 0.6756 0.544929 0.6186 0.6995 Uncertain 3_175205148_C->T 3 175205148 175205148 C T snp 518.77 0/1 99 44 21 23 0.52 intronic rs7646041 NAALADL2 AU NM_207015 exon9 c.612349+15602C>T 0.750399 0.7222 Uncertain 3_175345143_C->G 3 175345143 175345143 C G snp 974.77 1/1 72 39 0 39 1.0 exonic rs9866564 NAALADL2 AU nonsynonymous SNV NM_207015 exon11 c.C1865G p.P622R 0.758187 0.8611 0.724881 0.7941 0.8818 0.03 T 0.554 P -1.098 T 0.998 D 0.927 D Pathogenic 3_175473047_T->C 3 175473047 175473047 T C snp 1665.77 1/1 99 57 0 57 1.0 exonic rs9826737 NAALADL2 AU nonsynonymous SNV NM_207015 exon13 c.T2030C p.L677S 0.980232 1 0.953342 0.9536 1 1 T 0.0 P -0.938 T 0.0 T 0.0 T Pathogenic 3_176765253_G->A 3 176765253 176765253 G A snp 999.77 1/1 72 34 0 34 1.0 intronic rs1201300 TBL1XR1 AD NM_024665 exon9 c.21988-20G>A 1 1 0.999915 1.0000 1 Uncertain 3_176765269_T->C 3 176765269 176765269 T C snp 1100.77 1/1 78 39 0 39 1.0 splicing rs3749234 TBL1XR1 AD NM_024665 exon9 c.21988-4T>C 0.174521 0.4425 0.157153 0.2069 0.5235 Pathogenic 3_176767668_TTAC->- 3 176767668 176767671 TTAC - indel 882.73 1/1 48 16 0 16 1.0 intronic rs35503291 TBL1XR1 AD NM_024665 exon10 c.24499-116_24499-113delTTAC Uncertain 3_176767672_T->G 3 176767672 176767672 T G snp 559.77 1/1 42 16 0 16 1.0 intronic rs2862642 TBL1XR1 AD NM_024665 exon10 c.24499-112T>G Uncertain 3_176767673_A->G 3 176767673 176767673 A G snp 591.77 1/1 45 16 0 16 1.0 intronic rs2862643 TBL1XR1 AD NM_024665 exon10 c.24499-111A>G Uncertain 3_176769608_G->A 3 176769608 176769608 G A snp 1345.77 1/1 99 39 0 39 1.0 intronic rs1881979 TBL1XR1 AD NM_024665 exon12 c.26229+94G>A 0.34365 0.5655 Uncertain 3_176771861_-->GTGC 3 176771861 176771861 - GTGC indel 827.73 0/1 42 23 4 19 0.83 intronic rs145838308 TBL1XR1 AD NM_024665 exon13 c.28421+155insGTGC Uncertain 3_178546026_T->C 3 178546026 178546026 T C snp 1054.77 0/1 99 126 80 46 0.37 exonic rs9831934 KCNMB2 AU synonymous SNV NM_001278911 exon4 c.T288C p.N96N 0.582867 0.2252 0.682147 0.5630 0.2390 Uncertain 3_178560581_A->C 3 178560581 178560581 A C snp 2117.77 0/1 99 179 87 92 0.51 exonic rs6443583 KCNMB2 AU synonymous SNV NM_001278911 exon5 c.A564C p.T188T 0.580471 0.2212 0.680225 0.5611 0.2378 Uncertain 3_178742690_T->C 3 178742690 178742690 T C snp 130.03 1/1 12 4 0 4 1.0 UTR3 rs4607155 ZMAT3 AU 0.866014 0.9405 Uncertain 3_178785549_G->A 3 178785549 178785549 G A snp 1165.77 1/1 87 35 0 35 1.0 UTR5 rs6772028 ZMAT3 AU 0.874601 0.9405 0.813471 0.8085 0.9433 Uncertain 3_178942431_C->G 3 178942431 178942431 C G snp 428.77 0/1 99 21 6 15 0.71 intronic rs2699889 PIK3CA AU NM_006218 exon16 c.25874-56C>G 0.629393 0.2679 Uncertain 3_178968634_C->T 3 178968634 178968634 C T snp 1035.77 0/1 99 88 45 43 0.49 exonic rs7645550 KCNMB3 AU nonsynonymous SNV NM_171830 exon1 c.G145A p.A49T 0.315296 0.123 0.383977 0.3456 0.1169 0.17 T 0.996 P -0.920 T 1.0 D 0.996 D Pathogenic 3_178976591_T->A 3 178976591 178976591 T A snp 555.77 0/1 99 35 14 21 0.6 intergenic rs56400023 KCNMB3 AU 0.554513 0.8889 Uncertain 3_178976777_C->T 3 178976777 178976777 C T snp 1469.77 0/1 99 141 75 66 0.47 intergenic rs11720871 KCNMB3 AU 0.554513 0.8889 0.410580 0.5586 0.8837 Uncertain 3_178976821_G->A 3 178976821 178976821 G A snp 868.77 0/1 99 82 47 35 0.43 intergenic rs11720935 KCNMB3 AU 0.554313 0.8889 0.406921 Uncertain 3_178984575_A->G 3 178984575 178984575 A G snp 1232.77 0/1 99 85 41 44 0.52 intergenic rs7612684 KCNMB3 AU 0.282748 0.0516 Uncertain 3_179083079_C->T 3 179083079 179083079 C T snp 179.77 0/1 99 12 6 6 0.5 intronic rs60284816 MFN1 AU NM_033540 exon7 c.16374+66C>T 0.19369 0.2143 Uncertain 3_179085775_C->T 3 179085775 179085775 C T snp 231.77 0/1 99 13 5 8 0.62 intronic rs73043490 MFN1 AU NM_033540 exon9 c.19184-48C>T 0.189497 0.2143 0.159868 0.1879 0.1883 Uncertain 3_179092989_C->T 3 179092989 179092989 C T snp 537.77 0/1 99 41 18 23 0.56 intronic rs9865666 MFN1 AU NM_033540 exon10 c.26368-18C>T 0.735224 0.6567 0.698447 0.6991 0.6505 Uncertain 3_179096508_C->G 3 179096508 179096508 C G snp 2927.77 1/1 99 102 0 102 1.0 exonic rs7637065 MFN1 AU nonsynonymous SNV NM_033540 exon14 c.C1568G p.P523R 1 1 1.0000 1 1 T 1.000 P -0.979 T 0.0 T 0.0 T Pathogenic 3_179109735_A->G 3 179109735 179109735 A G snp 130.77 0/1 99 19 13 6 0.32 intronic rs2287209 MFN1 AU NM_033540 exon18 c.43129-33A>G 0.735224 0.6567 0.707715 0.7004 0.6466 Uncertain 3_179118998_C->T 3 179118998 179118998 C T snp 1851.77 0/1 99 145 65 80 0.55 UTR3 rs3774225 GNB4 AD 0.189896 0.2292 0.156774 0.1888 0.2111 Uncertain 3_179288086_C->T 3 179288086 179288086 C T snp 361.77 0/1 99 27 16 11 0.41 intronic rs12632721 ACTL6A AU NM_004301 exon3 c.7149+57C>T 0.119409 0.1002 Uncertain 3_179291309_T->- 3 179291309 179291309 T - indel 1085.86 1/1 2 56 7 49 0.88 intronic rs71907893 ACTL6A AU NM_004301 exon4 c.10377+52delT 0.811302 0.9117 0.718125 0.6455 0.7984 Uncertain 3_179294352_C->A 3 179294352 179294352 C A snp 1254.77 0/1 99 102 46 56 0.55 intronic rs2292907 ACTL6A AU NM_004301 exon7 c.13527-55C>A 0.119409 0.1002 Uncertain 3_179298999_C->T 3 179298999 179298999 C T snp 7146.77 1/1 99 246 0 246 1.0 exonic rs1132429 ACTL6A AU synonymous SNV NM_004301 exon11 c.C1017T p.D339D 0.680511 0.8869 0.602491 0.6516 0.8940 Uncertain 3_179304266_A->G 3 179304266 179304266 A G snp 241.77 0/1 99 18 8 10 0.56 intronic rs12635617 ACTL6A AU NM_004301 exon13 c.23453-67A>G 0.120607 0.1002 Uncertain 3_179304514_G->A 3 179304514 179304514 G A snp 182.77 0/1 99 16 9 7 0.44 intronic rs61086485 ACTL6A AU NM_004301 exon13 c.23540+94G>A 0.121006 0.1002 Uncertain 3_179305653_A->T 3 179305653 179305653 A T snp 109.77 0/1 99 13 8 5 0.38 intronic rs73883565 ACTL6A AU NM_004301 exon14 c.24837-64A>T 0.115815 0.1111 Uncertain 3_179305654_A->T 3 179305654 179305654 A T snp 395.28 0/1 9 14 2 12 0.86 intronic rs6443659 ACTL6A AU NM_004301 exon14 c.24837-63A>T 0.688898 0.8839 Uncertain 3_179306648_A->G 3 179306648 179306648 A G snp 783.77 0/1 99 50 20 30 0.6 UTR3 rs3774258 MRPL47 AU 0.0345447 0.0942 0.001615 0.0234 0.0984 ID=COSN167088;OCCURENCE=1(large_intestine) Uncertain 3_179306775_C->T 3 179306775 179306775 C T snp 848.77 0/1 99 69 30 39 0.57 exonic rs10513762 MRPL47 AU nonsynonymous SNV NM_177988 exon6 c.G308A p.R103H 0.119808 0.1002 0.082731 0.1008 0.1018 0.13 T 0.0 P -1.083 T 0.971 D 0.424 D Pathogenic 3_179311515_A->T 3 179311515 179311515 A T snp 740.77 0/1 99 50 21 29 0.58 intronic rs117060488 MRPL47 AU NM_020409 exon3 c.4893-37A>T 0.00239617 0.0109 0.0008 0.0092 Uncertain 3_179320682_G->A 3 179320682 179320682 G A snp 46.77 0/1 33 3 1 2 0.67 intronic rs16830629 MRPL47 AU NM_020409 exon6 c.13926+97G>A 0.120807 0.1002 Uncertain 3_179322385_A->C 3 179322385 179322385 A C snp 1326.77 0/1 99 86 38 48 0.56 exonic rs2339844 MRPL47 AU nonsynonymous SNV NM_020409 exon1 c.T28G p.C10G 0.120807 0.1002 0.083192 0.1018 0.1018 0.15 T 1.000 P -1.095 T 0.005 T 0.004 T Pathogenic 3_179325566_-->CTGT 3 179325566 179325566 - CTGT indel 2090.73 0/1 99 74 32 42 0.57 intronic rs113527645 NDUFB5 AU NM_001199958 exon1 c.124+2839insCTGT 0.121006 0.1002 0.1316 0.1263 Uncertain 3_179325722_A->G 3 179325722 179325722 A G snp 34.77 0/1 63 7 5 2 0.29 intronic rs58728627 NDUFB5 AU NM_001199958 exon1 c.124+2995A>G 0.119808 0.1002 Uncertain 3_179371154_C->T 3 179371154 179371154 C T snp 1701.77 0/1 99 137 65 72 0.53 exonic rs2276803 USP13 AU synonymous SNV NM_003940 exon1 c.C141T p.N47N 0.210064 0.1002 0.209198 0.2628 0.1893 Uncertain 3_179399570_C->T 3 179399570 179399570 C T snp 3609.77 1/1 99 130 0 130 1.0 intronic rs13080037 USP13 AU NM_003940 exon2 c.28652-95C>T 0.498802 0.6567 Uncertain 3_179437971_T->C 3 179437971 179437971 T C snp 320.77 0/1 99 32 19 13 0.41 intronic rs9877605 USP13 AU NM_003940 exon7 c.66809+149T>C 0.288139 0.3026 Uncertain 3_179437986_A->G 3 179437986 179437986 A G snp 206.77 0/1 99 22 14 8 0.36 intronic rs60372316 USP13 AU NM_003940 exon7 c.66809+164A>G 0.189896 0.248 Uncertain 3_179448067_T->- 3 179448067 179448067 T - indel 616.73 1/1 44 34 1 33 0.97 intronic rs11309768 USP13 AU NM_003940 exon9 c.77035+19delT 0.919329 0.9246 0.9192 0.9290 Uncertain 3_179448383_C->T 3 179448383 179448383 C T snp 2679.77 1/1 99 98 0 98 1.0 intronic rs3213761 USP13 AU NM_003940 exon10 c.77390-20C>T 0.689696 0.7629 0.697909 0.7133 0.7510 Uncertain 3_179463076_A->G 3 179463076 179463076 A G snp 297.77 0/1 99 17 4 13 0.76 intronic rs58527921 USP13 AU NM_003940 exon13 c.91992+71A>G 0.647364 0.7093 Uncertain 3_179463081_G->A 3 179463081 179463081 G A snp 198.77 0/1 99 14 4 10 0.71 intronic rs59131484 USP13 AU NM_003940 exon13 c.91992+76G>A 0.454872 0.627 Uncertain 3_179469995_A->G 3 179469995 179469995 A G snp 640.77 0/1 99 57 35 22 0.39 intronic rs2239639 USP13 AU NM_003940 exon14 c.99059-77A>G 0.26258 0.4365 Uncertain 3_179470375_C->T 3 179470375 179470375 C T snp 68.77 0/1 97 8 5 3 0.38 intronic rs2239638 USP13 AU NM_003940 exon14 c.99148+214C>T 0.263778 0.4365 Uncertain 3_179472674_C->T 3 179472674 179472674 C T snp 1389.77 0/1 99 118 63 55 0.47 intronic rs2287240 USP13 AU NM_003940 exon15 c.101629+32C>T 0.446086 0.6399 0.425035 0.5002 0.6784 Uncertain 3_179474767_A->G 3 179474767 179474767 A G snp 677.77 0/1 99 57 28 29 0.51 intronic rs3732992 USP13 AU NM_003940 exon16 c.103826-72A>G 0.180112 0.2242 0.173894 Uncertain 3_179481972_TG->- 3 179481972 179481973 TG - indel 985.73 1/1 81 55 0 55 1.0 intronic rs398063070 USP13 AU NM_003940 exon18 c.110943+16_110943+17delTG Uncertain 3_179525807_T->C 3 179525807 179525807 T C snp 133.03 1/1 12 4 0 4 1.0 intronic rs6800017 PEX5L AU NM_001256753 exon2 c.6004+188T>C 0.848442 0.9226 Uncertain 3_179527459_-->A 3 179527459 179527459 - A indel 215.73 1/1 34 14 0 14 1.0 splicing rs111620765 PEX5L AU NM_001256753 exon4 c.7841+3insA 0.5014 0.5666 Pathogenic 3_179592053_G->A 3 179592053 179592053 G A snp 1810.77 1/1 99 61 0 61 1.0 intronic rs1609981 PEX5L AU NM_001256753 exon9 c.72499-61G>A 0.927516 0.9504 Uncertain 3_179592240_C->T 3 179592240 179592240 C T snp 1550.77 0/1 99 109 46 63 0.58 intronic rs2339914 PEX5L AU NM_001256753 exon9 c.72596+29C>T 0.548922 0.7917 0.428879 0.4983 0.7903 Uncertain 3_179593072_T->A 3 179593072 179593072 T A snp 825.77 0/1 99 54 24 30 0.56 intronic rs55664665 PEX5L AU NM_001256753 exon10 c.73526-69T>A 0.548722 0.7917 Uncertain 3_179593352_C->T 3 179593352 179593352 C T snp 485.77 0/1 99 36 16 20 0.56 intronic rs2302743 PEX5L AU NM_001256753 exon10 c.73650+87C>T 0.548722 0.7917 Uncertain 3_179597979_G->A 3 179597979 179597979 G A snp 355.77 0/1 99 25 9 16 0.64 intronic rs13067789 PEX5L AU NM_001256753 exon11 c.78296+68G>A 0.229233 0.1925 Uncertain 3_179605294_T->C 3 179605294 179605294 T C snp 48.74 1/1 6 2 0 2 1.0 intronic rs2302741 PEX5L AU NM_001256753 exon12 c.85845-166T>C 0.205671 0.1161 Uncertain 3_179605647_C->A 3 179605647 179605647 C A snp 779.77 0/1 99 76 44 32 0.42 intronic rs41265425 PEX5L AU NM_001256753 exon12 c.85957+75C>A 0.20607 0.1161 Uncertain 3_179689173_T->C 3 179689173 179689173 T C snp 475.77 0/1 99 36 19 17 0.47 intronic rs3774255 PEX5L AU NM_016559 exon14 c.169766-208T>C 0.123602 0.0655 Uncertain 3_180327404_A->G 3 180327404 180327404 A G snp 225.77 0/1 99 15 5 10 0.67 UTR3 rs78443925 TTC14 AU 0.019369 0.0685 0.001077 0.0164 0.0837 Uncertain 3_180336997_T->C 3 180336997 180336997 T C snp 337.77 0/1 99 33 17 16 0.48 intronic rs59219887 CCDC39 AU NM_181426 exon5 c.4338-49T>C 0.00499201 0.0238 0.0009 0.0254 Uncertain 3_180630565_T->C 3 180630565 180630565 T C snp 3136.77 0/1 99 236 103 133 0.56 intronic rs1805579 FXR1 AU NM_005087 exon1 c.51+41T>C 0.165935 0.1627 0.178302 0.1909 0.1505 Uncertain 3_180633485_G->A 3 180633485 180633485 G A snp 2281.77 0/1 99 201 101 100 0.5 intronic rs1805564 FXR1 AU NM_005087 exon1 c.51+2961G>A 0.165935 0.1627 Uncertain 3_180666557_A->T 3 180666557 180666557 A T snp 562.77 0/1 99 50 27 23 0.46 exonic rs3026195 FXR1 AU synonymous SNV NM_001013438 exon6 c.A468T p.A156A 0.00259585 0.0109 0.0017 0.0232 Uncertain 3_180688997_-->A 3 180688997 180688997 - A indel 1868.73 1/1 99 43 0 43 1.0 intronic rs11368900 FXR1 AU NM_005087 exon15 c.57673+851insA 0.555911 0.5119 Uncertain 3_180693215_-->T 3 180693215 180693215 - T indel 178.73 0/1 90 26 6 20 0.77 intronic rs34318725 FXR1 AU NM_005087 exon16 c.62719+23insT 0.2638 0.2090 Uncertain 3_182546017_C->A 3 182546017 182546017 C A snp 530.77 0/1 99 53 28 25 0.47 intronic rs9814205 ATP11B AU NM_014616 exon3 c.34450+20C>A 0.64357 0.4355 0.741433 0.7163 0.4206 Uncertain 3_182547406_G->A 3 182547406 182547406 G A snp 85.77 0/1 99 9 4 5 0.56 intronic rs74454657 ATP11B AU NM_014616 exon4 c.35912-53G>A 0.061901 0.1091 0.025342 Uncertain 3_182576923_T->A 3 182576923 182576923 T A snp 113.77 0/1 99 13 9 4 0.31 intronic rs645597 ATP11B AU NM_014616 exon12 c.65402-26T>A 0.647165 0.4583 0.736752 0.7331 0.4979 Uncertain 3_182590354_C->T 3 182590354 182590354 C T snp 167.77 0/1 99 30 21 9 0.3 intronic rs771156 ATP11B AU NM_014616 exon18 c.78778+29C>T 0.646366 0.4583 0.723833 0.7123 0.4588 Uncertain 3_182598863_A->G 3 182598863 182598863 A G snp 317.77 0/1 99 34 21 13 0.38 intronic rs796406 ATP11B AU NM_014616 exon21 c.87222+94A>G 0.647165 0.4583 Uncertain 3_182623368_C->T 3 182623368 182623368 C T snp 111.77 0/1 99 9 5 4 0.44 intronic rs2036712 ATP11B AU NM_014616 exon28 c.105013+6808C>T 0.38778 0.5417 Uncertain 3_182623765_G->A 3 182623765 182623765 G A snp 46.77 0/1 33 3 1 2 0.67 intronic rs6768094 ATP11B AU NM_014616 exon28 c.105013+7205G>A 0.353035 0.5417 Uncertain 3_182631792_C->A 3 182631792 182631792 C A snp 977.77 0/1 99 72 36 36 0.5 intronic rs11925959 ATP11B AU NM_014616 exon29 c.120235+10C>A 0.352436 0.5417 0.264955 0.2873 0.5551 1.000 P -0.920 T Uncertain 3_182698405_G->T 3 182698405 182698405 G T snp 166.77 0/1 60 11 3 8 0.73 upstream rs558054157 DCUN1D1 AU 0.00299521 0.0139 Uncertain 3_182735182_C->A 3 182735182 182735182 C A snp 3133.77 1/1 99 102 0 102 1.0 intronic rs6786878 MCCC1 AR NM_001293273 exon2 c.1900+57C>A 0.953474 1 0.932545 Uncertain 3_182735211_T->G 3 182735211 182735211 T G snp 670.77 0/1 99 62 34 28 0.45 intronic rs2292056 MCCC1 AR NM_001293273 exon2 c.1900+86T>G 0.303115 0.5694 Uncertain 3_182735311_C->T 3 182735311 182735311 C T snp 54.74 1/1 6 2 0 2 1.0 intronic rs10804888 MCCC1 AR NM_001293273 exon2 c.1900+186C>T 0.917732 1 Uncertain 3_182738159_A->C 3 182738159 182738159 A C snp 265.8 1/1 21 8 0 8 1.0 intronic rs9834143 MCCC1 AR NM_001293273 exon3 c.4800+134A>C 0.917732 1 Uncertain 3_182755209_T->G 3 182755209 182755209 T G snp 810.77 0/1 99 68 30 38 0.56 exonic rs2270968 MCCC1 AR nonsynonymous SNV NM_020166 exon13 c.A1391C p.H464P 0.464856 0.3323 0.584807 0.6248 0.3327 0.3 T 0.113 P -0.918 T 0.001 T 0.004 T CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000081992.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 3_182757084_G->A 3 182757084 182757084 G A snp 217.77 0/1 99 23 13 10 0.43 intronic rs2270967 MCCC1 AR NM_001293273 exon8 c.23698+161G>A 0.359824 0.2272 Uncertain 3_182790249_G->A 3 182790249 182790249 G A snp 2385.77 1/1 99 87 0 87 1.0 exonic rs7622479 MCCC1 AR synonymous SNV NM_020166 exon5 c.C396T p.L132L 0.915535 1 0.885343 0.9297 0.9997 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000081994.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 3_182804385_G->A 3 182804385 182804385 G A snp 1163.77 0/1 99 91 42 49 0.54 intronic rs6806083 MCCC1 AR NM_001293273 exon15 c.71255-95G>A 0.419529 0.374 Uncertain 3_182810144_T->G 3 182810144 182810144 T G snp 1010.77 0/1 99 91 50 41 0.45 intronic rs3732604 MCCC1 AR NM_020166 exon17 c.76971-52T>G Uncertain 3_182817328_C->G 3 182817328 182817328 C G snp 3432.77 1/1 99 120 0 120 1.0 UTR5 rs937652 MCCC1 AR 0.544928 0.6508 Uncertain 3_182853670_T->C 3 182853670 182853670 T C snp 715.77 0/1 99 84 49 35 0.42 exonic rs482912 LAMP3 AU nonsynonymous SNV NM_014398 exon5 c.A952G p.I318V 0.496406 0.4712 0.591496 0.6483 0.5081 1 T 0.854 P -0.967 T 0.0 T 0.001 T Pathogenic 3_182858287_C->T 3 182858287 182858287 C T snp 1598.77 0/1 99 151 83 68 0.45 intronic rs522235 LAMP3 AU NM_014398 exon3 c.16457-38C>T 0.515575 0.4722 0.599031 0.6210 0.5032 Uncertain 3_182858461_A->G 3 182858461 182858461 A G snp 584.77 0/1 99 52 32 20 0.38 intronic rs831256 LAMP3 AU NM_014398 exon3 c.16515+78A>G 0.516973 0.4722 Uncertain 3_182870082_G->A 3 182870082 182870082 G A snp 733.77 1/1 54 27 0 27 1.0 intronic rs682396 LAMP3 AU NM_014398 exon4 c.28294-80G>A 0.870607 0.9028 Uncertain 3_182870436_G->A 3 182870436 182870436 G A snp 76.28 1/1 9 3 0 3 1.0 intronic rs514636 LAMP3 AU NM_014398 exon4 c.28423+145G>A 0.870407 0.9028 Uncertain 3_182871962_C->T 3 182871962 182871962 C T snp 3012.77 0/1 99 204 85 119 0.58 exonic rs653316 LAMP3 AU synonymous SNV NM_014398 exon2 c.G267A p.A89A 0.785942 0.7242 0.817008 0.8076 0.7499 Uncertain 3_182880480_A->G 3 182880480 182880480 A G snp 961.77 0/1 99 91 51 40 0.44 UTR5 rs3811729 LAMP3 AU 0.0986422 0.1081 0.069739 0.1269 0.1048 Uncertain 3_182880629_A->C 3 182880629 182880629 A C snp 570.77 1/1 42 17 0 17 1.0 UTR5 rs602762 LAMP3 AU 0.873003 0.9067 Uncertain 3_182880630_G->A 3 182880630 182880630 G A snp 180.77 0/1 99 15 9 6 0.4 UTR5 rs3811731 LAMP3 AU 0.0996406 0.1081 Uncertain 3_182925404_T->C 3 182925404 182925404 T C snp 1850.77 1/1 99 63 0 63 1.0 exonic rs6804951 MCF2L2 AU nonsynonymous SNV NM_015078 exon23 c.A2704G p.T902A 0.91274 1 0.876749 0.9270 1 0.57 T 1.000 P -0.999 T 0.0 T 0.0 T Pathogenic 3_182946002_A->G 3 182946002 182946002 A G snp 5356.77 1/1 99 201 0 201 1.0 intronic rs6803121 MCF2L2 AU NM_015078 exon13 c.48917-82A>G 0.904752 0.995 Uncertain 3_183027542_T->G 3 183027542 183027542 T G snp 1503.77 0/1 99 145 82 63 0.43 exonic rs7639705 MCF2L2 AU nonsynonymous SNV NM_015078 exon10 c.A1075C p.I359L 0.334465 0.3562 0.265339 0.2564 0.3660 1 T 0.000 P -0.930 T 0.0 T 0.001 T ID=CM105035;DIS=Diabetic nephropathy, association with;TAG=DP;PUB=20667095 DP Pathogenic 3_183028331_A->G 3 183028331 183028331 A G snp 97.77 0/1 99 13 8 5 0.38 intronic rs56662557 MCF2L2 AU NM_015078 exon22 c.131535-371A>G 0.244209 0.3562 0.4756 0.5769 Uncertain 3_183028451_A->- 3 183028451 183028451 A - indel 462.73 0/1 99 51 26 25 0.49 intronic rs60284418 MCF2L2 AU NM_015078 exon22 c.131535-251delA 0.339058 0.3611 0.5278 0.5312 Uncertain 3_183028600_A->T 3 183028600 183028600 A T snp 724.77 0/1 99 44 14 30 0.68 intronic rs1105132 MCF2L2 AU NM_015078 exon22 c.131535-102A>T 0.336861 0.3552 Uncertain 3_183029331_C->T 3 183029331 183029331 C T snp 1164.77 0/1 99 79 37 42 0.53 intronic rs3732595 MCF2L2 AU NM_015078 exon23 c.132268-104C>T 0.245008 0.3581 Uncertain 3_183036166_G->T 3 183036166 183036166 G T snp 311.77 0/1 91 13 3 10 0.77 intronic rs3732593 MCF2L2 AU NM_015078 exon24 c.138838+161G>T 0.305511 0.2946 Uncertain 3_183041201_C->G 3 183041201 183041201 C G snp 160.77 0/1 99 15 7 8 0.53 intronic rs28513326 MCF2L2 AU NM_015078 exon25 c.143972+62C>G 0.315296 0.2976 Uncertain 3_183056541_A->C 3 183056541 183056541 A C snp 2110.77 0/1 99 171 81 90 0.53 intronic rs6772530 MCF2L2 AU NM_015078 exon26 c.159420-46A>C 0.366014 0.4077 0.312394 0.2441 0.4121 Uncertain 3_183056598_G->A 3 183056598 183056598 G A snp 2170.77 0/1 99 174 79 95 0.55 exonic rs12632177 MCF2L2 AU nonsynonymous SNV NM_015078 exon5 c.C476T p.T159M 0.0565096 0.122 0.041289 0.0527 0.1226 1 T 0.000 P -1.036 T 0.019 T 0.003 T Pathogenic 3_183107570_G->A 3 183107570 183107570 G A snp 1893.77 0/1 99 152 73 79 0.52 splicing rs41321544 MCF2L2 AU NM_015078 exon29 c.210400+3G>A 0.0315495 0.0794 0.007381 0.0211 0.0755 Pathogenic 3_183211906_A->G 3 183211906 183211906 A G snp 2042.77 0/1 99 175 86 89 0.51 exonic rs1520101 KLHL6 AU synonymous SNV NM_130446 exon5 c.T1311C p.N437N 0.697883 0.8006 0.581270 0.5610 0.7976 Uncertain 3_183368005_G->A 3 183368005 183368005 G A snp 46.77 0/1 33 3 1 2 0.67 intronic rs3755649 KLHL24 AU 0.329872 0.4355 Uncertain 3_183368216_A->T 3 183368216 183368216 A T snp 3110.77 0/1 99 250 127 123 0.49 exonic rs3755648 KLHL24 AU synonymous SNV NM_017644 exon3 c.A72T p.R24R 0.350439 0.4355 0.345687 0.2857 0.4672 Uncertain 3_183368747_C->T 3 183368747 183368747 C T snp 3293.77 0/1 99 249 117 132 0.53 exonic rs16857887 KLHL24 AU synonymous SNV NM_017644 exon3 c.C603T p.H201H 0.057508 0.002 0.057051 0.0161 0.0008 Uncertain 3_183368891_C->T 3 183368891 183368891 C T snp 3148.77 0/1 99 234 111 123 0.53 exonic rs2293031 KLHL24 AU synonymous SNV NM_017644 exon3 c.C747T p.H249H 0.353235 0.4355 0.349223 0.2904 0.4672 Uncertain 3_183432983_C->T 3 183432983 183432983 C T snp 1586.77 0/1 99 172 100 72 0.42 exonic rs3736535 YEATS2 AU synonymous SNV NM_018023 exon2 c.C33T p.T11T 0.189297 0.2937 0.158396 0.1759 0.3089 Uncertain 3_183439972_-->G 3 183439972 183439972 - G indel 674.73 0/1 99 35 16 19 0.54 intronic rs3841649 YEATS2 AU NM_018023 exon5 c.6974+48insG 0.49401 0.6548 0.453983 0.4985 0.6581 Uncertain 3_183476685_G->A 3 183476685 183476685 G A snp 2747.77 0/1 99 248 124 124 0.5 exonic rs262993 YEATS2 AU nonsynonymous SNV NM_018023 exon13 c.G1588A p.V530I 0.425719 0.5188 0.392374 0.4372 0.5089 0.01 T 0.000 P -0.957 T 0.094 T 0.01 T Pathogenic 3_183491340_T->C 3 183491340 183491340 T C snp 340.77 0/1 99 34 22 12 0.35 intronic rs262961 YEATS2 AU NM_018023 exon17 c.58470-80T>C 0.427716 0.5238 Uncertain 3_183491720_T->C 3 183491720 183491720 T C snp 1244.77 1/1 90 34 0 34 1.0 intronic rs262960 YEATS2 AU NM_018023 exon17 c.58632+138T>C 0.801118 0.9544 Uncertain 3_183493744_GGA->- 3 183493744 183493746 GGA - indel 576.73 0/1 99 35 20 15 0.43 exonic rs146705467 YEATS2 AU nonframeshift deletion NM_018023 exon18 c.2410_2412del p.804_804del 0.4485 0.4917 ID=COSM1484898;OCCURENCE=1(biliary_tract),1(breast) Uncertain 3_183493991_G->A 3 183493991 183493991 G A snp 383.77 1/1 30 12 0 12 1.0 intronic rs2606220 YEATS2 AU NM_018023 exon18 c.60961+80G>A 0.78095 0.9544 Uncertain 3_183510782_T->A 3 183510782 183510782 T A snp 33.77 0/1 62 5 3 2 0.4 intronic rs263022 YEATS2 AU NM_018023 exon21 c.75818+2014T>A 0.473043 0.5248 Uncertain 3_183521133_A->G 3 183521133 183521133 A G snp 375.77 0/1 99 45 25 20 0.44 intronic rs263042 YEATS2 AU NM_018023 exon26 c.88173+10A>G 0.51857 0.6627 0.455924 0.5119 0.6723 Uncertain 3_183521819_G->A 3 183521819 183521819 G A snp 953.77 0/1 99 110 67 43 0.39 exonic rs117722758 YEATS2 AU synonymous SNV NM_018023 exon27 c.G3627A p.L1209L 0.00658946 0.0308 0.0027 0.0349 Uncertain 3_183524193_T->C 3 183524193 183524193 T C snp 1467.77 0/1 99 119 57 62 0.52 intronic rs263034 YEATS2 AU NM_018023 exon28 c.91703-460T>C 0.466454 0.5238 0.4877 0.4286 Uncertain 3_183524349_C->G 3 183524349 183524349 C G snp 214.77 0/1 99 22 14 8 0.36 intronic rs263033 YEATS2 AU NM_018023 exon28 c.91703-304C>G 0.467452 0.5238 0.4734 0.5 Uncertain 3_183524948_T->C 3 183524948 183524948 T C snp 324.77 0/1 99 26 14 12 0.46 intronic rs263031 YEATS2 AU NM_018023 exon28 c.91930+68T>C 0.472843 0.5248 Uncertain 3_183528442_C->T 3 183528442 183528442 C T snp 1026.77 0/1 99 64 25 39 0.61 UTR3 rs263024 YEATS2 AU 0.453275 0.5089 Uncertain 3_183535094_C->T 3 183535094 183535094 C T snp 351.77 0/1 99 17 5 12 0.71 UTR3 rs2582091 MAP6D1 AU 0.450479 0.5188 0.411447 0.4695 0.4872 Uncertain 3_183535763_A->G 3 183535763 183535763 A G snp 1283.77 0/1 99 90 45 45 0.5 intronic rs897604 MAP6D1 AU NM_024871 exon2 c.638-18A>G 0.509185 0.6181 0.492849 0.5166 0.6284 Uncertain 3_183536063_T->C 3 183536063 183536063 T C snp 1011.77 1/1 75 27 0 27 1.0 intronic rs894000 MAP6D1 AU NM_024871 exon2 c.756+164T>C 0.793331 0.9544 Uncertain 3_183543291_G->A 3 183543291 183543291 G A snp 297.78 1/1 24 8 0 8 1.0 exonic rs263006 MAP6D1 AU synonymous SNV NM_024871 exon1 c.C45T p.R15R 0.448083 0.5149 0.357753 0.5784 0.4844 Uncertain 3_183558402_C->G 3 183558402 183558402 C G snp 398.77 1/1 30 18 0 18 1.0 exonic rs3732581 PARL AU nonsynonymous SNV NM_018622 exon7 c.G784C p.V262L 0.455471 0.4087 0.486543 0.4680 0.4194 0.65 T 1.000 P -0.995 T 0.187 T 0.133 T ID=CM058254;DIS=Increased plasma insulin levels, association with;TAG=DP;PUB=15729572 DP Pathogenic 3_183560195_A->G 3 183560195 183560195 A G snp 1148.77 1/1 81 47 0 47 1.0 exonic rs13091 PARL AU synonymous SNV NM_018622 exon6 c.T648C p.H216H 0.456869 0.4077 0.487160 0.4683 0.4183 Uncertain 3_183560292_A->T 3 183560292 183560292 A T snp 1127.77 1/1 81 41 0 41 1.0 intronic rs7652031 PARL AU NM_018622 exon5 c.12850+57A>T 0.457069 0.4077 Uncertain 3_183562276_A->C 3 183562276 183562276 A C snp 707.77 1/1 54 24 0 24 1.0 intronic rs3811725 PARL AU NM_018622 exon6 c.14729+162A>C 0.395767 0.4087 Uncertain 3_183580750_A->G 3 183580750 183580750 A G snp 666.77 1/1 51 18 1 17 0.94 intronic rs1554397 PARL AU NM_018622 exon7 c.33204+161A>G 0.806709 0.9494 Uncertain 3_183586005_C->T 3 183586005 183586005 C T snp 96.28 1/1 9 3 0 3 1.0 intronic rs3749446 PARL AU NM_018622 exon9 c.38463+157C>T 0.762181 0.872 Uncertain 3_183604723_A->G 3 183604723 183604723 A G snp 1202.77 1/1 87 44 1 43 0.98 intergenic rs1829515 PARL AU 0.814097 0.9494 0.9444 . Uncertain 3_183604801_G->T 3 183604801 183604801 G T snp 602.77 1/1 45 20 0 20 1.0 intergenic rs4420923 PARL AU 0.395767 0.4107 Uncertain 3_183643585_T->C 3 183643585 183643585 T C snp 88.77 0/1 99 20 14 6 0.3 intronic rs56348509 ABCC5 AU NM_005688 exon2 c.4420+78T>C 0.150559 0.0615 Uncertain 3_183663833_T->C 3 183663833 183663833 T C snp 1490.77 0/1 99 116 59 57 0.49 intronic rs2292998 ABCC5 AU NM_005688 exon7 c.24640+106T>C 0.696486 0.8532 Uncertain 3_183665062_G->C 3 183665062 183665062 G C snp 469.77 1/1 36 15 0 15 1.0 intronic rs1016752 ABCC5 AU NM_005688 exon8 c.26024-49G>C 0.784944 0.9117 0.720062 0.6730 0.9265 Uncertain 3_183669396_C->T 3 183669396 183669396 C T snp 301.77 0/1 99 24 14 10 0.42 intronic rs4148586 ABCC5 AU NM_005688 exon11 c.30271+38C>T 0.201677 0.2619 0.236914 0.2704 0.2560 Uncertain 3_183679532_A->G 3 183679532 183679532 A G snp 742.77 0/1 99 69 39 30 0.43 intronic rs6443924 ABCC5 AU NM_005688 exon15 c.40355+90A>G 0.691494 0.8611 Uncertain 3_183685534_A->G 3 183685534 183685534 A G snp 2244.77 0/1 99 188 100 88 0.47 exonic rs939336 ABCC5 AU synonymous SNV NM_005688 exon12 c.T1782C p.C594C 0.691693 0.8621 0.628487 0.5870 0.8640 Uncertain 3_183696402_A->G 3 183696402 183696402 A G snp 1271.77 0/1 99 119 62 57 0.48 exonic rs1132776 ABCC5 AU synonymous SNV NM_005688 exon9 c.T1185C p.A395A 0.676518 0.8522 0.619939 0.5821 0.8544 Uncertain 3_183699516_T->C 3 183699516 183699516 T C snp 371.77 0/1 99 48 32 16 0.33 exonic rs7636910 ABCC5 AU synonymous SNV NM_005688 exon8 c.A1146G p.Q382Q 0.334265 0.4167 0.341942 0.3491 0.4181 Uncertain 3_183699781_A->C 3 183699781 183699781 A C snp 637.77 0/1 99 40 17 23 0.57 intronic rs2872247 ABCC5 AU NM_005688 exon23 c.60575+119A>C 0.200479 0.254 Uncertain 3_183700211_C->T 3 183700211 183700211 C T snp 230.77 0/1 99 18 8 10 0.56 intronic rs2293001 ABCC5 AU NM_005688 exon24 c.61151-27C>T 0.42472 0.4157 0.423771 0.3751 0.4134 Uncertain 3_183706630_A->C 3 183706630 183706630 A C snp 222.77 0/1 99 15 8 7 0.47 intronic rs6443926 ABCC5 AU NM_005688 exon27 c.67428+115A>C 0.676717 0.8532 Uncertain 3_183749731_T->C 3 183749731 183749731 T C snp 1012.77 1/1 75 29 0 29 1.0 intronic rs939334 HTR3D AU NM_001145143 exon1 c.66+136T>C 0.348842 0.2817 Uncertain 3_183754029_T->C 3 183754029 183754029 T C snp 307.78 1/1 24 8 0 8 1.0 intronic rs6792482 HTR3D AU NM_001163646 exon4 c.3544-133T>C 0.533746 0.4841 Uncertain 3_183754045_C->A 3 183754045 183754045 C A snp 218.84 1/1 18 6 0 6 1.0 intronic rs6779545 HTR3D AU NM_001163646 exon4 c.3544-117C>A 0.534145 0.4841 Uncertain 3_183754294_G->C 3 183754294 183754294 G C snp 1813.77 1/1 99 66 0 66 1.0 exonic;splicing rs6443930 HTR3D;HTR3D UN nonsynonymous SNV NM_182537 exon3 c.G107C p.G36A 0.533746 0.4841 0.515916 0.4616 0.4962 0.91 T 1.000 P -0.959 T 0.0 T 0.0 T Pathogenic 3_183755822_G->A 3 183755822 183755822 G A snp 2153.77 1/1 99 75 0 75 1.0 exonic rs1000952 HTR3D AU nonsynonymous SNV NM_182537 exon4 c.G155A p.R52H 0.763978 0.9167 0.698754 0.6623 0.9194 0.02 T 0.000 P -0.944 T 0.998 D 0.753 D Pathogenic 3_183756426_T->C 3 183756426 183756426 T C snp 1373.77 1/1 96 52 0 52 1.0 intronic rs6799766 HTR3D AU NM_001163646 exon7 c.5794+14T>C 0.676518 0.755 0.653349 0.6148 0.7685 Uncertain 3_183756702_G->A 3 183756702 183756702 G A snp 5287.77 1/1 99 196 0 196 1.0 exonic rs6789754 HTR3D AU nonsynonymous SNV NM_182537 exon6 c.G779A p.R260H 0.678514 0.754 0.653852 0.6006 0.7573 0.3 T 0.0 P -0.916 T 0.796 T 0.16 P Pathogenic 3_183756742_C->T 3 183756742 183756742 C T snp 6283.77 1/1 99 245 0 245 1.0 exonic rs55674402 HTR3D AU synonymous SNV NM_182537 exon6 c.C819T p.V273V 0.311102 0.3194 0.339074 0.3639 0.3314 Uncertain 3_183756780_A->C 3 183756780 183756780 A C snp 5933.77 1/1 99 226 0 226 1.0 UTR3 rs6765152 HTR3D AU 0.776358 0.9177 0.699446 0.6740 0.9198 Uncertain 3_183756808_G->A 3 183756808 183756808 G A snp 4829.77 1/1 99 183 0 183 1.0 UTR3 rs6789882 HTR3D AU 0.859824 0.9821 0.804629 0.7683 0.9869 Uncertain 3_183756836_-->TGTCAGTCCAAAT 3 183756836 183756836 - TGTCAGTCCAAAT indel 16662.7 1/1 99 129 0 129 1.0 UTR3 rs11274156 HTR3D AU Uncertain 3_183756837_G->T 3 183756837 183756837 G T snp 2296.77 1/1 99 68 0 68 1.0 UTR3 rs375924051 HTR3D AU Uncertain 3_183756897_A->G 3 183756897 183756897 A G snp 1059.77 1/1 78 27 0 27 1.0 UTR3 rs55953689 HTR3D AU 0.228435 0.2758 Uncertain 3_183774762_C->A 3 183774762 183774762 C A snp 1983.77 0/1 99 176 85 91 0.52 exonic rs6766410 HTR3C AU nonsynonymous SNV NM_130770 exon5 c.C489A p.N163K 0.464657 0.6508 0.422420 0.4454 0.6399 0.63 T 0.001 P -0.925 T 0.044 T 0.026 T ID=CM093684;DIS=Autism, association with;TAG=DP;PUB=19035560 DP Pathogenic 3_183774872_-->A 3 183774872 183774872 - A indel 1491.73 0/1 99 102 49 53 0.52 intronic rs11432832 HTR3C AU NM_130770 exon5 c.3964+40insA 0.764976 0.7867 0.725843 0.6720 0.7837 Uncertain 3_183776469_C->T 3 183776469 183776469 C T snp 67.77 0/1 96 15 11 4 0.27 intronic rs7617316 HTR3C AU NM_130770 exon6 c.5507+94C>T 0.757788 0.7728 Uncertain 3_183777919_G->A 3 183777919 183777919 G A snp 1348.77 0/1 99 149 88 61 0.41 intronic rs6807271 HTR3C AU NM_130770 exon9 c.7069-18G>A 0.555711 0.746 0.509540 0.5532 0.7354 Uncertain 3_183778010_G->C 3 183778010 183778010 G C snp 2506.77 0/1 99 221 127 94 0.43 exonic rs6807362 HTR3C AU nonsynonymous SNV NM_130770 exon9 c.G1214C p.G405A 0.55631 0.746 0.511072 0.5444 0.7320 0.53 T 0.0 P -0.991 T 0.647 T 0.156 P ID=CM093685;DIS=Autism, association with;TAG=DP;PUB=19035560 DP Pathogenic 3_183778298_G->A 3 183778298 183778298 G A snp 344.77 0/1 99 23 12 11 0.48 UTR3 rs6807670 HTR3C AU 0.621006 0.7629 Uncertain 3_183815439_A->G 3 183815439 183815439 A G snp 104.77 0/1 99 18 12 6 0.33 intergenic rs6765267 HTR3C AU 0.514776 0.7381 Uncertain 3_183818416_G->A 3 183818416 183818416 G A snp 1191.77 0/1 99 115 61 54 0.47 exonic rs7627615 HTR3E AU nonsynonymous SNV NM_182589 exon1 c.G256A p.A86T 0.734225 0.7679 0.683915 0.6407 0.7652 1 T 0.000 P -0.956 T 0.001 T 0.001 T Pathogenic 3_183818511_A->G 3 183818511 183818511 A G snp 444.77 0/1 99 37 18 19 0.51 intronic rs55683908 HTR3E AU NM_198314 exon1 c.279+72A>G 0.220248 0.2411 Uncertain 3_183819155_T->C 3 183819155 183819155 T C snp 2617.77 1/1 99 87 0 87 1.0 intronic rs7432211 HTR3E AU NM_001256613 exon3 c.3955-117T>C 0.406949 0.3433 Uncertain 3_183819475_T->A 3 183819475 183819475 T A snp 40.77 0/1 33 3 1 2 0.67 intronic rs56015034 HTR3E AU NM_001256613 exon3 c.4000+158T>A 0.0547125 0.0774 Uncertain 3_183823576_T->C 3 183823576 183823576 T C snp 2169.77 1/1 99 68 0 68 1.0 exonic rs4912524 HTR3E AU synonymous SNV NM_182589 exon6 c.T789C p.S263S 0.999201 1 0.997232 0.9973 1 Uncertain 3_183856747_T->G 3 183856747 183856747 T G snp 31.77 0/1 60 12 9 3 0.25 intronic rs148870861 EIF2B5 AR NM_003907 exon5 c.2861+713T>G 0.00419329 0.0149 0.0054 0.0217 Uncertain 3_183888780_G->A 3 183888780 183888780 G A snp 86.77 0/1 99 14 10 4 0.29 UTR3 rs78433447 DVL3 AD 0.00459265 0.0218 Uncertain 3_183896641_T->C 3 183896641 183896641 T C snp 301.77 0/1 99 48 34 14 0.29 splicing rs2231216 AP2M1 AU NM_004068 exon3 c.1863-3T>C 0.419329 0.5655 0.399712 0.4673 0.5586 Pathogenic 3_183900680_G->C 3 183900680 183900680 G C snp 1333.77 0/1 99 124 63 61 0.49 intronic rs843366 AP2M1 AU NM_004068 exon11 c.5875+24G>C 0.341853 0.5437 0.279207 0.3644 0.5676 0.0 P -0.916 T Uncertain 3_183900729_T->C 3 183900729 183900729 T C snp 1106.77 0/1 99 105 58 47 0.45 intronic rs843365 AP2M1 AU NM_004068 exon11 c.5875+73T>C 0.528754 0.6012 0.5726 0.6531 0.0 P -0.942 T Uncertain 3_183900836_G->A 3 183900836 183900836 G A snp 93.77 0/1 99 25 18 7 0.28 intronic rs843364 AP2M1 AU NM_004068 exon11 c.5875+180G>A 0.553514 0.6012 Uncertain 3_183903935_-->G 3 183903935 183903935 - G indel 577.73 0/1 99 75 49 26 0.35 UTR5 rs16833781 ABCF3 AU 0.436901 0.5952 0.442459 Uncertain 3_183904049_A->G 3 183904049 183904049 A G snp 2693.77 0/1 99 249 131 118 0.47 exonic rs11539876 ABCF3 AU synonymous SNV NM_018358 exon1 c.A54G p.Q18Q 0.172524 0.3075 0.142473 0.1864 0.3138 Uncertain 3_183904232_T->A 3 183904232 183904232 T A snp 1047.77 1/1 78 29 0 29 1.0 intronic rs1709624 ABCF3 AU NM_018358 exon2 c.299-62T>A 0.910743 0.9692 Uncertain 3_183905103_G->C 3 183905103 183905103 G C snp 767.77 0/1 99 45 16 29 0.64 intronic rs2942056 ABCF3 AU NM_018358 exon4 c.1189-81G>C 0.375599 0.5972 0.3432 0.6018 Uncertain 3_183906515_T->C 3 183906515 183906515 T C snp 937.77 0/1 99 76 40 36 0.47 intronic rs843345 ABCF3 AU NM_018358 exon8 c.2553-33T>C 0.555112 0.6022 0.526449 0.5253 0.6037 Uncertain 3_183907032_G->C 3 183907032 183907032 G C snp 920.77 0/1 99 104 61 43 0.41 intronic rs843344 ABCF3 AU NM_018358 exon11 c.3047-10G>C 0.554912 0.6022 0.527372 0.5241 0.6032 Uncertain 3_183907733_C->T 3 183907733 183907733 C T snp 919.77 0/1 99 96 54 42 0.44 intronic ABCF3 AU NM_018358 exon14 c.3724+14C>T Uncertain 3_183909163_C->T 3 183909163 183909163 C T snp 37.77 0/1 66 6 4 2 0.33 intronic rs843339 ABCF3 AU NM_018358 exon16 c.5048+120C>T 0.337061 0.5437 Uncertain 3_183975365_C->T 3 183975365 183975365 C T snp 5955.77 1/1 99 218 0 218 1.0 exonic rs7633387 ECE2 AU nonsynonymous SNV NM_014693 exon2 c.C301T p.H101Y 0.992812 1 0.976319 0.9811 0.9999 0.67 T 1.000 P -0.955 T 0.0 T 0.0 T Pathogenic 3_183994536_A->G 3 183994536 183994536 A G snp 3269.77 1/1 99 125 0 125 1.0 intronic rs843371 ECE2 AU NM_001100120 exon2 c.552+43A>G 0.778155 0.6786 0.822107 0.7896 0.7089 Uncertain 3_183995341_C->T 3 183995341 183995341 C T snp 2013.77 1/1 99 51 0 51 1.0 intronic rs1001817 ECE2 AU NM_001100120 exon4 c.1313+87C>T 0.483227 0.4157 Uncertain 3_183995854_G->A 3 183995854 183995854 G A snp 2330.77 1/1 99 85 2 83 0.98 intronic rs2272471 ECE2 AU NM_001100120 exon5 c.1896+17G>A 0.482827 0.4157 0.534830 0.5059 0.4497 Uncertain 3_183996068_C->T 3 183996068 183996068 C T snp 3636.77 1/1 99 129 0 129 1.0 exonic rs3752904 ECE2 AU synonymous SNV NM_001037324 exon5 c.C630T p.A210A 0.501997 0.4157 0.551284 0.5102 0.4490 Uncertain 3_183996213_C->T 3 183996213 183996213 C T snp 1457.77 1/1 99 46 0 46 1.0 intronic rs843372 ECE2 AU NM_001100120 exon7 c.2338-66C>T 0.791534 0.6806 0.823916 Uncertain 3_183996485_TTTCTTCT->- 3 183996485 183996492 TTTCTTCT - indel 1232.73 0/1 64 27 1 26 0.96 intronic rs140658066 ECE2 AU NM_001100120 exon7 c.2404+140_2404+147delTTTCTTCT 0.484625 0.4157 Uncertain 3_183996511_C->T 3 183996511 183996511 C T snp 287.9 0/1 15 12 1 11 0.92 intronic rs1387976 ECE2 AU NM_001100120 exon7 c.2404+166C>T 0.484824 0.4157 Uncertain 3_184003194_C->T 3 184003194 184003194 C T snp 733.77 1/1 54 23 0 23 1.0 intronic rs1687230 ECE2 AU NM_001100120 exon10 c.9324-71C>T 0.689097 0.6587 Uncertain 3_184010048_G->C 3 184010048 184010048 G C snp 3720.77 1/1 99 129 0 129 1.0 UTR3 rs3914188 ECE2 AU 0.702875 0.6349 0.744272 0.7302 0.6370 Uncertain 3_184016991_T->G 3 184016991 184016991 T G snp 59.74 1/1 6 4 0 4 1.0 UTR5 rs2272475 PSMD2 AU 0.478035 0.375 Uncertain 3_184016992_T->C 3 184016992 184016992 T C snp 91.28 1/1 9 4 0 4 1.0 UTR5 rs2272474 PSMD2 AU 0.478035 0.375 Uncertain 3_184020100_-->A 3 184020100 184020100 - A indel 217.8 1/1 18 6 0 6 1.0 intronic rs397821969 PSMD2 AU NM_002808 exon6 c.3103-57insA 0.955871 0.999 Uncertain 3_184020905_A->G 3 184020905 184020905 A G snp 3287.77 1/1 99 121 1 120 0.99 intronic rs2272473 PSMD2 AU NM_002808 exon8 c.3796+55A>G 0.416933 0.376 0.370127 Uncertain 3_184037533_A->G 3 184037533 184037533 A G snp 4433.77 1/1 99 158 0 158 1.0 exonic rs13319149 EIF4G1 AD nonsynonymous SNV NM_198241 exon7 c.A481G p.T161A 0.999201 1 0.997309 0.9981 1 1 T 0.0 P -0.983 T 0.0 T 0.0 T Pathogenic 3_184038874_A->T 3 184038874 184038874 A T snp 94.28 1/1 9 3 0 3 1.0 intronic rs9846954 EIF4G1 AD NM_198241 exon9 c.5197+93A>T 0.388179 0.3591 Uncertain 3_184039666_A->G 3 184039666 184039666 A G snp 4465.77 1/1 99 143 0 143 1.0 exonic rs2178403 EIF4G1 AD nonsynonymous SNV NM_198241 exon10 c.A1294G p.M432V 0.782348 0.6528 0.820929 0.7554 0.6582 0.36 T 0.0 P -0.946 T 0.0 T 0.0 T Pathogenic 3_184045799_A->G 3 184045799 184045799 A G snp 4393.77 1/1 99 160 0 160 1.0 intronic rs939317 EIF4G1 AD NM_198241 exon26 c.12206+9A>G 0.786941 0.7103 0.812241 0.7582 0.7233 Uncertain 3_184046355_C->T 3 184046355 184046355 C T snp 1727.77 1/1 99 61 0 61 1.0 intronic rs1879244 EIF4G1 AD NM_198241 exon27 c.12834-63C>T 0.778554 0.6429 Uncertain 3_184056101_G->C 3 184056101 184056101 G C snp 2146.77 1/1 99 70 0 70 1.0 intronic rs1881973 FAM131A AU NM_144635 exon2 c.756-73G>C 0.419928 0.3909 Uncertain 3_184064916_C->A 3 184064916 184064916 C A snp 606.77 1/1 45 18 0 18 1.0 intronic rs2293603 CLCN2 AR,AD NM_004366 exon2 c.416+107C>A 0.183906 0.3135 Uncertain 3_184070675_A->G 3 184070675 184070675 A G snp 2225.77 1/1 99 84 1 83 0.99 intronic rs3749223 CLCN2 AR,AD NM_004366 exon6 c.6205+77A>G 0.734425 0.621 Uncertain 3_184075047_A->G 3 184075047 184075047 A G snp 4464.77 1/1 99 156 0 156 1.0 exonic rs2228291 CLCN2 AR,AD synonymous SNV NM_004366 exon9 c.T906C p.I302I 0.355032 0.373 0.305705 0.2922 0.4025 Uncertain 3_184090266_C->T 3 184090266 184090266 C T snp 921.77 1/1 66 31 0 31 1.0 UTR3 rs6141 THPO AD 0.640575 0.4216 0.670075 0.5629 0.4378 ID=CR014438;DIS=Myocardial infarction, association with;TAG=DP;PUB=11257273 DP Uncertain 3_184093527_C->T 3 184093527 184093527 C T snp 477.77 0/1 99 38 20 18 0.47 intronic rs2280740 THPO AD NM_001177598 exon3 c.3004+138C>T 0.110224 0.121 Uncertain 3_184094183_A->G 3 184094183 184094183 A G snp 194.77 0/1 99 14 6 8 0.57 UTR5 rs956732 THPO AD 0.506789 0.3919 Uncertain 3_184099342_G->C 3 184099342 184099342 G C snp 2794.77 0/1 99 200 79 121 0.6 exonic rs3749228 CHRD AU synonymous SNV NM_001304472 exon4 c.G441C p.P147P 0.11222 0.1022 0.069648 0.0840 0.1111 Uncertain 3_184100587_G->A 3 184100587 184100587 G A snp 3101.77 0/1 99 249 129 120 0.48 intronic rs74825990 CHRD AU NM_001304472 exon8 c.2456+25G>A 0.0764776 0.1012 0.034292 0.0457 0.1079 Uncertain 3_184103903_A->C 3 184103903 184103903 A C snp 1128.77 0/1 99 95 50 45 0.47 exonic rs16858780 CHRD AU nonsynonymous SNV NM_001304472 exon15 c.A1888C p.M630L 0.286542 0.3075 0.221590 0.2252 0.3108 1 T 0.000 P -0.949 T 0.0 T 0.001 T Pathogenic 3_184106035_C->T 3 184106035 184106035 C T snp 68.77 0/1 97 7 4 3 0.43 intronic rs3749227 CHRD AU NM_001304472 exon20 c.7715+214C>T Uncertain 3_184106493_T->G 3 184106493 184106493 T G snp 1850.77 0/1 99 167 94 73 0.44 exonic rs2293606 CHRD AU synonymous SNV NM_001304472 exon21 c.T2673G p.P891P 0.111621 0.1062 0.085268 0.0796 0.1137 Uncertain 3_184289152_A->G 3 184289152 184289152 A G snp 850.77 0/1 99 94 55 39 0.41 exonic rs13069661 EPHB3 AU synonymous SNV NM_004443 exon2 c.A165G p.T55T 0.211462 0.3264 0.187759 0.2090 0.2975 Uncertain 3_184293564_C->T 3 184293564 184293564 C T snp 332.77 0/1 99 24 10 14 0.58 intronic rs7640497 EPHB3 AU NM_004443 exon4 c.13594-53C>T 0.31849 0.1647 Uncertain 3_184293610_T->C 3 184293610 184293610 T C snp 783.77 0/1 99 49 20 29 0.59 intronic rs9823034 EPHB3 AU NM_004443 exon4 c.13594-7T>C 0.134185 0.1567 0.133938 0.1469 0.1395 Uncertain 3_184293769_T->C 3 184293769 184293769 T C snp 2066.77 0/1 99 187 95 92 0.49 exonic rs7652597 EPHB3 AU synonymous SNV NM_004443 exon4 c.T1008C p.C336C 0.336861 0.1657 0.399354 0.3143 0.1470 Uncertain 3_184295008_C->A 3 184295008 184295008 C A snp 1027.77 0/1 99 92 48 44 0.48 intronic rs7644069 EPHB3 AU NM_004443 exon5 c.14948+37C>A 0.32488 0.1647 0.382498 0.3172 0.1549 Uncertain 3_184295828_C->A 3 184295828 184295828 C A snp 1533.77 0/1 99 117 48 69 0.59 intronic rs4072650 EPHB3 AU NM_004443 exon8 c.15771+34C>A 0.330871 0.1647 0.389743 0.3118 0.1472 Uncertain 3_184295921_C->T 3 184295921 184295921 C T snp 475.77 0/1 99 37 16 21 0.57 intronic rs4072651 EPHB3 AU NM_004443 exon8 c.15771+127C>T 0.331869 0.1647 Uncertain 3_184295923_A->G 3 184295923 184295923 A G snp 327.77 0/1 99 31 15 16 0.52 intronic rs4072652 EPHB3 AU NM_004443 exon8 c.15771+129A>G 0.331869 0.1637 Uncertain 3_184296464_G->A 3 184296464 184296464 G A snp 243.77 0/1 99 16 8 8 0.5 intronic rs3888139 EPHB3 AU NM_004443 exon9 c.16231+210G>A 0.300719 0.1647 Uncertain 3_184299068_G->A 3 184299068 184299068 G A snp 3017.77 0/1 99 249 130 119 0.48 exonic rs9881589 EPHB3 AU synonymous SNV NM_004443 exon15 c.G2760A p.T920T 0.157348 0.1597 0.166231 0.1706 0.1408 Uncertain 3_184299167_T->C 3 184299167 184299167 T C snp 2247.77 0/1 99 169 83 86 0.51 exonic rs1138510 EPHB3 AU synonymous SNV NM_004443 exon15 c.T2859C p.S953S 0.33147 0.1677 0.386745 0.3079 0.1482 Uncertain 3_184299414_C->T 3 184299414 184299414 C T snp 1159.77 0/1 99 77 35 42 0.55 UTR3 rs2230596 EPHB3 AU 0.135383 0.1369 0.160105 0.2061 0.1813 Uncertain 3_184402122_G->A 3 184402122 184402122 G A snp 1240.77 1/1 93 34 0 34 1.0 intergenic rs9290796 EPHB3 AU 0.379792 0.5278 Uncertain 3_184550501_A->G 3 184550501 184550501 A G snp 1173.77 1/1 84 40 0 40 1.0 exonic rs9830734 VPS8 AU nonsynonymous SNV NM_001009921 exon4 c.A247G p.I83V 0.553914 0.6657 0.400934 0.4371 0.6870 0.43 T 0.001 P -1.023 T 0.0 T 0.001 T Pathogenic 3_184557280_T->C 3 184557280 184557280 T C snp 52.74 1/1 6 2 0 2 1.0 intronic rs35697607 VPS8 AU NM_015303 exon7 c.15065-205T>C 0.577676 0.6627 Uncertain 3_184560969_T->C 3 184560969 184560969 T C snp 491.77 1/1 36 18 0 18 1.0 intronic rs16859344 VPS8 AU NM_001009921 exon7 c.15124+3425T>C 0.335863 0.6161 0.178007 Uncertain 3_184561140_-->A 3 184561140 184561140 - A indel 595.73 1/1 60 23 0 23 1.0 intronic rs11384502 VPS8 AU NM_001009921 exon7 c.15124+3596insA 0.572284 0.6657 Uncertain 3_184567039_C->A 3 184567039 184567039 C A snp 1755.77 1/1 99 57 0 57 1.0 intronic rs2305240 VPS8 AU NM_015303 exon8 c.24563+56C>A 0.383187 0.6101 Uncertain 3_184573555_C->T 3 184573555 184573555 C T snp 2444.77 1/1 99 87 0 87 1.0 exonic rs6443999 VPS8 AU synonymous SNV NM_001009921 exon13 c.C1092T p.Y364Y 0.554313 0.6587 0.415935 0.4146 0.6746 Uncertain 3_184577917_A->G 3 184577917 184577917 A G snp 489.77 1/1 36 19 0 19 1.0 intronic rs7340698 VPS8 AU NM_015303 exon14 c.35433+64A>G 0.349241 0.6131 Uncertain 3_184580917_A->G 3 184580917 184580917 A G snp 677.77 1/1 51 18 0 18 1.0 intronic rs3733165 VPS8 AU NM_015303 exon15 c.38435+62A>G 0.588658 0.6637 Uncertain 3_184588420_A->C 3 184588420 184588420 A C snp 1150.77 1/1 84 33 0 33 1.0 intronic rs2305239 VPS8 AU NM_015303 exon20 c.46083-83A>C 0.590056 0.6607 Uncertain 3_184642587_-->T 3 184642587 184642587 - T indel 286.79 0/1 19 19 3 16 0.84 intronic rs11391596 VPS8 AU NM_015303 exon29 c.100229-62insT 0.647963 0.7421 Uncertain 3_184647413_T->C 3 184647413 184647413 T C snp 2177.77 1/1 99 78 0 78 1.0 exonic rs4643688 VPS8 AU synonymous SNV NM_001009921 exon32 c.T2760C p.D920D 0.874401 0.9524 0.859719 0.9070 0.9605 Uncertain 3_184653913_C->G 3 184653913 184653913 C G snp 521.77 0/1 99 60 38 22 0.37 intronic VPS8 AU NM_015303 exon34 c.111613-120C>G Uncertain 3_184654166_A->G 3 184654166 184654166 A G snp 3189.78 1/1 99 113 0 113 1.0 intronic rs6444004 VPS8 AU NM_015303 exon34 c.111703+43A>G 0.998203 1 0.997622 0.9990 1 Uncertain 3_184675095_C->T 3 184675095 184675095 C T snp 1070.77 1/1 81 33 0 33 1.0 intronic rs3732934 VPS8 AU NM_015303 exon36 c.132741-66C>T 0.33147 0.6161 Uncertain 3_184675148_TTTTA->- 3 184675148 184675152 TTTTA - indel 7467.73 1/1 99 93 0 93 1.0 intronic rs375524361 VPS8 AU NM_015303 exon36 c.132741-13_132741-9delTTTTA 0.337859 0.6161 0.180039 0.3483 0.6410 Uncertain 3_184675359_T->C 3 184675359 184675359 T C snp 2838.77 1/1 99 91 0 91 1.0 intronic rs4501092 VPS8 AU NM_015303 exon36 c.132889+50T>C 0.998203 1 0.997856 0.9991 1 Uncertain 3_184684313_G->A 3 184684313 184684313 G A snp 428.77 1/1 33 13 0 13 1.0 intronic rs4470487 VPS8 AU NM_015303 exon38 c.142038-145G>A 0.939297 1 Uncertain 3_184700356_A->C 3 184700356 184700356 A C snp 1427.77 0/1 99 149 82 67 0.45 exonic rs4572747 VPS8 AU synonymous SNV NM_001009921 exon40 c.A3423C p.A1141A 0.850439 0.8909 0.884234 0.9413 0.9051 Uncertain 3_184700426_C->T 3 184700426 184700426 C T snp 1444.77 0/1 99 162 90 72 0.44 exonic rs11555405 VPS8 AU nonsynonymous SNV NM_001009921 exon40 c.C3493T p.H1165Y 0.285942 0.506 0.188362 0.2934 0.5310 1 T 0.0 P -0.951 T 0.007 T 0.014 T Pathogenic 3_184714014_C->T 3 184714014 184714014 C T snp 276.77 0/1 99 27 16 11 0.41 intronic rs9860814 VPS8 AU NM_015303 exon43 c.171699-105C>T 0.849441 0.8909 Uncertain 3_184717703_T->C 3 184717703 184717703 T C snp 119.77 0/1 99 19 14 5 0.26 intronic rs2291737 VPS8 AU NM_015303 exon44 c.175229+54T>C 0.862819 0.8909 Uncertain 3_184742256_T->C 3 184742256 184742256 T C snp 1182.77 0/1 99 85 38 47 0.55 intronic rs2377256 VPS8 AU NM_015303 exon45 c.199757+79T>C 0.15016 0.1091 Uncertain 3_184766148_A->G 3 184766148 184766148 A G snp 3057.77 1/1 99 106 0 106 1.0 intronic rs3821748 VPS8 AU NM_015303 exon46 c.223846-118A>G 0.551518 0.6657 Uncertain 3_184766186_A->C 3 184766186 184766186 A C snp 4478.77 1/1 99 143 0 143 1.0 intronic rs3821749 VPS8 AU NM_015303 exon46 c.223846-80A>C 0.551717 0.6667 Uncertain 3_184766249_T->C 3 184766249 184766249 T C snp 4947.77 1/1 99 182 0 182 1.0 intronic rs6779564 VPS8 AU NM_015303 exon46 c.223846-17T>C 0.551318 0.6657 0.073034 0.4757 0.6709 Uncertain 3_184766250_C->T 3 184766250 184766250 C T snp 5008.77 1/1 99 183 0 183 1.0 intronic rs6766721 VPS8 AU NM_015303 exon46 c.223846-16C>T 0.551717 0.6667 0.096227 0.4757 0.6709 Uncertain 3_184766392_G->A 3 184766392 184766392 G A snp 1966.77 1/1 99 73 1 72 0.99 intronic rs3821751 VPS8 AU NM_015303 exon46 c.223927+45G>A 0.551717 0.6667 0.451836 0.4757 0.6709 Uncertain 3_184769455_A->G 3 184769455 184769455 A G snp 56.74 1/1 6 2 0 2 1.0 intronic rs10937197 VPS8 AU NM_015303 exon47 c.227243-208A>G 0.3752 0.6121 Uncertain 3_184769911_C->T 3 184769911 184769911 C T snp 490.77 1/1 39 14 0 14 1.0 UTR3 rs2271257 VPS8 AU 0.551717 0.6667 Uncertain 3_184769941_T->C 3 184769941 184769941 T C snp 133.03 1/1 12 4 0 4 1.0 UTR3 rs2271258 VPS8 AU 0.551917 0.6667 Uncertain 3_184907295_A->- 3 184907295 184907295 A - indel 168.87 1/1 15 5 0 5 1.0 ncRNA_intronic rs11363706 EHHADH-AS1 AU Uncertain 3_184910133_G->T 3 184910133 184910133 G T snp 1789.77 0/1 99 149 75 74 0.5 exonic rs11919970 EHHADH AD nonsynonymous SNV NM_001966 exon7 c.C2053A p.Q685K 0.177716 0.0665 0.176534 0.1137 0.0717 0.43 T 1.000 P -1.066 T 0.004 T 0.003 T Pathogenic 3_184911151_T->C 3 184911151 184911151 T C snp 2928.77 0/1 99 250 132 118 0.47 exonic rs3732933 EHHADH AD synonymous SNV NM_001966 exon7 c.A1035G p.E345E 0.0732827 0.0665 0.066892 0.0819 0.0719 Uncertain 3_184922294_C->T 3 184922294 184922294 C T snp 2125.77 0/1 99 152 67 85 0.56 exonic rs2302819 EHHADH AD nonsynonymous SNV NM_001966 exon6 c.G820A p.A274T 0.0894569 0.1498 0.046517 0.0477 0.1539 0 D 1.0 P -0.847 T 1.0 D 0.962 D Pathogenic 3_184935807_A->C 3 184935807 184935807 A C snp 249.77 0/1 99 22 14 8 0.36 intronic rs35531967 EHHADH AD NM_001966 exon3 c.25910-116A>C 0.690895 0.4851 Uncertain 3_184947212_A->G 3 184947212 184947212 A G snp 412.77 0/1 99 34 16 18 0.53 intronic rs41268595 EHHADH AD NM_001966 exon4 c.37206-7A>G 0.0539137 0.0615 0.053821 0.0749 0.0721 Uncertain 3_184947422_A->G 3 184947422 184947422 A G snp 406.77 0/1 99 26 8 18 0.69 intronic rs719393 EHHADH AD NM_001966 exon4 c.37318+91A>G 0.128994 0.0615 Uncertain 3_184971560_A->G 3 184971560 184971560 A G snp 37.77 0/1 66 4 2 2 0.5 intronic rs532863658 EHHADH AD NM_001166415 exon7 c.61600-53A>G 0.104832 0.1696 Uncertain 3_185046766_T->A 3 185046766 185046766 T A snp 54.74 1/1 6 2 0 2 1.0 intronic rs9859234 MAP3K13 AU NM_001242317 exon2 c.38+43335T>A 0.730831 0.7817 Uncertain 3_185046975_T->C 3 185046975 185046975 T C snp 694.77 0/1 99 84 51 33 0.39 intronic rs9863304 MAP3K13 AU NM_001242317 exon2 c.38+43544T>C 0.844249 0.876 0.9189 0.855 Uncertain 3_185155430_-->T 3 185155430 185155430 - T indel 425.73 1/1 54 27 0 27 1.0 intronic rs113427759 MAP3K13 AU NM_001242314 exon4 c.9049+12insT 0.616214 0.626 0.5905 0.5873 Uncertain 3_185183418_G->C 3 185183418 185183418 G C snp 261.8 1/1 21 7 0 7 1.0 intronic rs667526 MAP3K13 AU NM_001242314 exon10 c.37165-116G>C 0.990615 1 Uncertain 3_185253095_T->C 3 185253095 185253095 T C snp 134.03 1/1 12 4 0 4 1.0 intronic rs642188 LIPH AR NM_139248 exon9 c.26343+175T>C 0.989417 1 Uncertain 3_185270069_C->T 3 185270069 185270069 C T snp 122.77 0/1 66 6 2 4 0.67 intronic LIPH AR NM_139248 exon10 c.43633-141C>T Uncertain 3_185539031_C->T 3 185539031 185539031 C T snp 102.77 0/1 99 12 8 4 0.33 intronic rs564353704 IGF2BP2 AD NM_001291873 exon15 c.175601+112C>T 0.000199681 0.001 Uncertain 3_185643454_A->G 3 185643454 185643454 A G snp 2378.77 1/1 99 82 0 82 1.0 intronic rs2551372 TRA2B AU NM_001243879 exon7 c.7912+40A>G 0.163339 0.247 0.057051 0.1310 0.2310 Uncertain 3_185655454_A->G 3 185655454 185655454 A G snp 766.77 1/1 57 23 0 23 1.0 intronic rs1862904 TRA2B AU NM_001243879 exon8 c.20110-158A>G 0.683506 0.623 Uncertain 3_185766711_G->A 3 185766711 185766711 G A snp 1526.77 1/1 99 48 0 48 1.0 intronic rs79060173 ETV5 AU NM_004454 exon1 c.222+62G>A 0.28135 0.63 Uncertain 3_185774813_C->A 3 185774813 185774813 C A snp 6739.77 1/1 99 236 1 235 1.0 intronic rs59852126 ETV5 AU NM_004454 exon3 c.8436-50C>A 0.15016 0.4583 0.027064 0.0918 0.4576 ID=CS1211797;DIS=Male infertility, association with;TAG=DP;PUB=22771031 DP Uncertain 3_185879296_T->C 3 185879296 185879296 T C snp 1515.77 1/1 99 54 0 54 1.0 intronic rs13073156 DGKG AU NM_001346 exon2 c.11513-95T>C 0.9998 1 Uncertain 3_185882643_C->G 3 185882643 185882643 C G snp 2197.77 1/1 99 75 0 75 1.0 intronic rs4686741 DGKG AU NM_001346 exon3 c.14808-43C>G 0.780152 0.9187 0.717746 0.7711 0.9226 Uncertain 3_185905876_G->A 3 185905876 185905876 G A snp 1134.77 1/1 84 31 0 31 1.0 intronic rs13087397 DGKG AU NM_001346 exon4 c.38112-114G>A 0.445487 0.7004 Uncertain 3_185960192_A->G 3 185960192 185960192 A G snp 221.84 1/1 18 7 0 7 1.0 intronic rs6799929 DGKG AU NM_001346 exon6 c.92414-100A>G 0.879992 1 Uncertain 3_185960414_G->A 3 185960414 185960414 G A snp 5439.77 1/1 99 204 0 204 1.0 intronic rs12489063 DGKG AU NM_001346 exon6 c.92479+57G>A 0.648363 0.9067 0.625055 Uncertain 3_185978114_G->A 3 185978114 185978114 G A snp 736.77 0/1 99 60 31 29 0.48 intronic rs2276795 DGKG AU NM_001346 exon10 c.110349-113G>A 0.00599042 0.0268 Uncertain 3_185982955_G->A 3 185982955 185982955 G A snp 341.77 0/1 99 34 22 12 0.35 intronic rs3815620 DGKG AU NM_001346 exon12 c.115157-80G>A 0.558906 0.7123 Uncertain 3_185982972_T->C 3 185982972 185982972 T C snp 477.77 0/1 99 49 30 19 0.39 intronic rs3815619 DGKG AU NM_001346 exon12 c.115157-63T>C 0.419329 0.6101 0.428165 Uncertain 3_185990096_C->T 3 185990096 185990096 C T snp 5430.77 1/1 99 189 0 189 1.0 exonic rs2193587 DGKG AU nonsynonymous SNV NM_001080744 exon11 c.G947A p.R316K 0.808906 0.744 0.824696 0.7935 0.7292 1 T 0.0 P -0.938 T 0.0 T 0.003 T Pathogenic 3_186006566_T->C 3 186006566 186006566 T C snp 4128.77 1/1 99 147 0 147 1.0 exonic rs710443 DGKG AU synonymous SNV NM_001080744 exon6 c.A477G p.V159V 0.695887 0.7103 0.688528 0.7081 0.7188 Uncertain 3_186276393_C->T 3 186276393 186276393 C T snp 1179.77 1/1 84 40 0 40 1.0 intronic rs9854418 TBCCD1 AU NM_001134415 exon6 c.7423+32C>T 0.412141 0.7063 0.335537 0.4584 0.7175 Uncertain 3_186287777_T->C 3 186287777 186287777 T C snp 1009.77 1/1 75 36 0 36 1.0 intronic rs2889755 TBCCD1 AU NM_001134415 exon8 c.18957-118T>C 0.877196 0.8919 Uncertain 3_186288565_A->G 3 186288565 186288565 A G snp 1171.77 1/1 84 38 0 38 1.0 UTR5 rs3806714 DNAJB11 AU 0.805911 0.8929 Uncertain 3_186293820_T->G 3 186293820 186293820 T G snp 2038.77 1/1 99 66 0 66 1.0 intronic rs2280390 DNAJB11 AU NM_016306 exon3 c.5040+94T>G 0.509185 0.7877 Uncertain 3_186295417_-->T 3 186295417 186295417 - T indel 461.77 1/1 21 35 3 32 0.91 intronic rs11386781 DNAJB11 AU NM_016306 exon4 c.6770-39insT 0.409345 0.5675 0.4290 0.5018 Uncertain 3_186302391_-->TTGTGTGTGTGTGT 3 186302391 186302391 - TTGTGTGTGTGTGT indel 5610.73 1/1 99 69 0 69 1.0 intronic rs140269415 DNAJB11 AU NM_016306 exon9 c.13692+13insTTGTGTGTGTGTGT Uncertain 3_186302412_T->G 3 186302412 186302412 T G snp 36.77 0/1 65 22 18 4 0.18 intronic rs62291969 DNAJB11 AU NM_016306 exon9 c.13692+34T>G 0.3008 0.2086 Uncertain 3_186302414_G->T 3 186302414 186302414 G T snp 32.77 0/1 61 22 19 3 0.14 intronic DNAJB11 AU NM_016306 exon9 c.13692+36G>T Uncertain 3_186336176_A->G 3 186336176 186336176 A G snp 71.77 0/1 99 9 6 3 0.33 intronic rs2070635 AHSG AU NM_001622 exon5 c.5394-148A>G 0.38099 0.621 CLINSIG=other;CLNDBN=Calcium_oxalate_urolithiasis;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000128584.1;CLNDSDB=MedGen:OMIM:SNOMED_CT;CLNDSDBID=C1833683:167030:444717006 Uncertain 3_186337713_T->C 3 186337713 186337713 T C snp 2332.77 0/1 99 200 93 107 0.54 exonic rs4917 AHSG AU nonsynonymous SNV NM_001622 exon6 c.T743C p.M248T 0.735423 0.745 0.685068 0.6830 0.7248 1 T 0.0 P -1.000 T 0.0 T 0.0 T CLINSIG=other;CLNDBN=Leanness\x2c_susceptibility_to;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000017418.1;CLNDSDB=.;CLNDSDBID=. ID=CM052829;DIS=Leanness, association with;TAG=DP;PUB=15806395 DP Pathogenic 3_186337827_T->C 3 186337827 186337827 T C snp 1122.77 0/1 99 102 51 51 0.5 intronic rs2518136 AHSG AU NM_001622 exon6 c.6799+98T>C 0.484425 0.622 Uncertain 3_186338382_G->C 3 186338382 186338382 G C snp 984.77 0/1 99 81 44 37 0.46 exonic rs4918 AHSG AU nonsynonymous SNV NM_001622 exon7 c.G767C p.S256T 0.713658 0.745 0.657389 0.6767 0.7252 0.53 T 0.0 P -1.026 T 0.0 T 0.0 T CLINSIG=other;CLNDBN=Leanness\x2c_susceptibility_to;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000017419.1;CLNDSDB=.;CLNDSDBID=. ID=CM052828;DIS=Leanness, association with;TAG=DP;PUB=15806395 DP Pathogenic 3_186338425_A->C 3 186338425 186338425 A C snp 1943.77 0/1 99 160 75 85 0.53 exonic rs1071592 AHSG AU synonymous SNV NM_001622 exon7 c.A810C p.T270T 0.814696 0.8383 0.779563 0.7659 0.8259 Uncertain 3_186369280_G->T 3 186369280 186369280 G T snp 1251.77 0/1 99 80 38 42 0.53 intronic rs111266998 FETUB AU NM_014375 exon6 c.10841+190G>T 0.00119808 0.006 Uncertain 3_186370333_G->T 3 186370333 186370333 G T snp 1591.77 1/1 99 58 0 58 1.0 exonic rs1131364 FETUB AU synonymous SNV NM_014375 exon7 c.G1062T p.V354V 0.655751 0.746 0.553360 0.5402 0.7325 Uncertain 3_186386664_-->A 3 186386664 186386664 - A indel 109.87 1/1 15 5 0 5 1.0 intronic rs397688789 HRG AD NM_000412 exon2 c.2903-59insA Uncertain 3_186393091_-->GAGA 3 186393091 186393091 - GAGA indel 814.73 1/1 55 28 2 26 0.93 intronic rs766618968 HRG AD NM_000412 exon6 c.9159+112insGAGA Uncertain 3_186393093_T->A 3 186393093 186393093 T A snp 387.77 0/1 99 22 6 16 0.73 intronic rs34359202 HRG AD NM_000412 exon6 c.9159+114T>A Uncertain 3_186393095_T->A 3 186393095 186393095 T A snp 510.53 1/1 3 19 1 18 0.95 intronic rs2378122 HRG AD NM_000412 exon6 c.9159+116T>A 0.970447 0.9921 Uncertain 3_186393097_T->A 3 186393097 186393097 T A snp 525.74 1/1 6 19 1 18 0.95 intronic rs7428891 HRG AD NM_000412 exon6 c.9159+118T>A 0.970447 0.9921 Uncertain 3_186393122_C->G 3 186393122 186393122 C G snp 107.77 0/1 99 16 10 6 0.38 intronic rs13093283 HRG AD NM_000412 exon6 c.9159+143C>G Uncertain 3_186395180_T->C 3 186395180 186395180 T C snp 5183.77 1/1 99 174 1 173 0.99 exonic rs7629680 HRG AD synonymous SNV NM_000412 exon7 c.T1086C p.H362H 0.998403 1 0.998001 0.9995 1 Uncertain 3_186395436_C->T 3 186395436 186395436 C T snp 7160.77 1/1 99 249 0 249 1.0 exonic rs1042445 HRG AD nonsynonymous SNV NM_000412 exon7 c.C1342T p.R448C 0.273163 0.2847 0.234968 0.2707 0.3087 0.18 T 0.000 P -0.916 T 0.001 T 0.0 T Pathogenic 3_186395572_A->T 3 186395572 186395572 A T snp 5526.77 1/1 99 202 0 202 1.0 exonic rs1042464 HRG AD nonsynonymous SNV NM_000412 exon7 c.A1478T p.N493I 0.650559 0.8145 0.551822 0.5520 0.7974 1 T 0.000 P -1.002 T 0.0 T 0.0 T Pathogenic 3_186440243_G->A 3 186440243 186440243 G A snp 1513.77 0/1 99 123 57 66 0.54 exonic rs1469859 KNG1 AR synonymous SNV NM_000893 exon3 c.G324A p.T108T 0.24401 0.2133 0.276872 0.3023 0.2358 Uncertain 3_186442833_G->C 3 186442833 186442833 G C snp 74.77 0/1 99 8 5 3 0.38 intronic rs1656921 KNG1 AR NM_001102416 exon4 c.7545-43G>C 0.523562 0.3562 0.545287 0.5351 0.3852 Uncertain 3_186443018_T->C 3 186443018 186443018 T C snp 1498.77 0/1 99 145 75 70 0.48 exonic rs1656922 KNG1 AR nonsynonymous SNV NM_000893 exon4 c.T533C p.M178T 0.524161 0.3562 0.545748 0.5373 0.3847 0.62 T 0.0 P -0.934 T 0.0 T 0.0 T ID=CM065290;DIS=Nephropathy, reduced risk, association with;TAG=DP;PUB=17065357 DP Pathogenic 3_186459227_A->G 3 186459227 186459227 A G snp 44.77 0/1 33 3 1 2 0.67 intronic rs698078 KNG1 AR NM_001102416 exon10 c.23979-83A>G 0.413538 0.2946 Uncertain 3_186459927_T->C 3 186459927 186459927 T C snp 3276.77 0/1 99 250 122 128 0.51 exonic rs710446 KNG1 AR nonsynonymous SNV NM_001102416 exon10 c.T1742C p.I581T 0.415335 0.2966 0.441876 0.4154 0.3153 1.000 P -0.982 T 0.0 T 0.0 T ID=CM112211;DIS=Venous thrombosis, increased risk, association;TAG=DP;PUB=21270443 DP Pathogenic 3_186501502_C->A 3 186501502 186501502 C A snp 1697.77 1/1 99 67 0 67 1.0 intronic rs266720 EIF4A2 AU NM_001967 exon1 c.29+74C>A 0.467053 0.4504 0.471748 Uncertain 3_186502665_C->T 3 186502665 186502665 C T snp 2546.77 0/1 99 216 111 105 0.49 intronic rs3816112 EIF4A2 AU NM_001967 exon4 c.1351-85C>T 0.0966454 0.1647 0.053540 0.0874 0.1576 Uncertain 3_186507922_C->T 3 186507922 186507922 C T snp 3316.77 1/1 99 110 0 110 1.0 intronic rs2066500 RFC4 AU NM_002916 exon2 c.173-8C>T 0.279952 0.4256 0.199139 0.2827 0.3995 Uncertain 3_186508312_C->T 3 186508312 186508312 C T snp 501.77 1/1 39 13 0 13 1.0 intronic rs266759 RFC4 AU NM_002916 exon3 c.438+117C>T 0.498802 0.5208 Uncertain 3_186509517_G->A 3 186509517 186509517 G A snp 7429.77 1/1 99 250 0 250 1.0 exonic rs187868 RFC4 AU synonymous SNV NM_002916 exon8 c.C798T p.A266A 0.483826 0.5 0.474781 0.4918 0.4720 Uncertain 3_186518806_C->A 3 186518806 186518806 C A snp 2137.77 1/1 99 62 0 62 1.0 intronic rs3917109 RFC4 AU NM_002916 exon9 c.11148-99C>A 0.278954 0.4256 Uncertain 3_186522633_A->C 3 186522633 186522633 A C snp 639.77 1/1 48 18 1 17 0.94 intronic rs710450 RFC4 AU NM_002916 exon10 c.14756+120A>C 0.492412 0.5198 Uncertain 3_186571123_G->T 3 186571123 186571123 G T snp 324.77 0/1 99 30 17 13 0.43 ncRNA_intronic rs1501299 ADIPOQ-AS1 AU 0.300319 0.2937 ID=CS040828;DIS=Diabetes, type 2, association with;TAG=DP;PUB=11812766 DP Uncertain 3_186791795_A->G 3 186791795 186791795 A G snp 345.78 1/1 27 11 0 11 1.0 intronic rs9821439 ST6GAL1 AU NM_003032 exon6 c.31455-151A>G 0.601238 0.6806 Uncertain 3_186791817_A->C 3 186791817 186791817 A C snp 292.77 0/1 99 24 13 11 0.46 intronic rs2268526 ST6GAL1 AU NM_003032 exon6 c.31455-129A>C 0.0952476 0.1577 Uncertain 3_186793729_A->G 3 186793729 186793729 A G snp 99.28 1/1 9 3 0 3 1.0 UTR3 rs1042642 ST6GAL1 AU 0.588658 0.6815 Uncertain 3_186938956_C->T 3 186938956 186938956 C T snp 1612.77 0/1 99 131 59 72 0.55 intergenic rs3733001 LOC101929106 AU 0.469848 0.6895 0.332154 0.3745 0.7022 Uncertain 3_186940797_G->T 3 186940797 186940797 G T snp 85.77 0/1 67 6 2 4 0.67 intergenic rs2287366 LOC101929106 AU 0.141573 0.1865 Uncertain 3_186947410_C->T 3 186947410 186947410 C T snp 437.77 1/1 33 15 0 15 1.0 intergenic rs850318 LOC101929106 AU 0.937899 1 Uncertain 3_186953808_C->T 3 186953808 186953808 C T snp 3270.77 0/1 99 250 128 122 0.49 exonic rs850312 MASP1 AR synonymous SNV NM_139125 exon11 c.G1851A p.L617L 0.211861 0.2034 0.247347 0.2908 0.2076 Uncertain 3_186954285_A->G 3 186954285 186954285 A G snp 7465.77 1/1 99 250 0 250 1.0 exonic rs710452 MASP1 AR synonymous SNV NM_139125 exon11 c.T1374C p.P458P 0.952077 1 0.954175 0.9869 0.9997 Uncertain 3_186961478_A->G 3 186961478 186961478 A G snp 688.77 1/1 51 20 0 20 1.0 intronic rs710460 MASP1 AR NM_001879 exon8 c.23551+69A>G 0.94369 1 Uncertain 3_186969371_-->G 3 186969371 186969371 - G indel 587.73 0/1 99 32 15 17 0.53 intronic rs3214401 MASP1 AR NM_001879 exon10 c.31563-50insG 0.248403 0.1964 0.275515 0.2563 0.1843 Uncertain 3_186969634_A->G 3 186969634 186969634 A G snp 288.77 0/1 99 22 12 10 0.45 intronic rs698092 MASP1 AR NM_001879 exon10 c.31682+94A>G 0.420128 0.4167 Uncertain 3_187003495_A->G 3 187003495 187003495 A G snp 496.77 1/1 39 13 0 13 1.0 intronic rs698105 MASP1 AR NM_001879 exon15 c.65754-117A>G 0.752796 0.881 Uncertain 3_187086082_CAGA->- 3 187086082 187086085 CAGA - indel 1730.73 1/1 78 26 0 26 1.0 upstream rs3029886 RTP4 AU 0.694888 0.6746 Uncertain 3_187088656_C->T 3 187088656 187088656 C T snp 1516.77 0/1 99 154 85 69 0.45 exonic rs1047584 RTP4 AU nonsynonymous SNV NM_022147 exon2 c.C236T p.T79I 0.179712 0.0536 0.221590 0.2037 0.0600 0.13 T 0.0 P -1.016 T 0.905 T 0.599 P Pathogenic 3_187088812_C->T 3 187088812 187088812 C T snp 1508.77 0/1 99 138 75 63 0.46 exonic rs3821812 RTP4 AU nonsynonymous SNV NM_022147 exon2 c.C392T p.T131M 0.384385 0.7351 0.302168 0.3825 0.6930 0.26 T 0.0 P -0.984 T 0.23 T 0.031 T Pathogenic 3_187088903_C->A 3 187088903 187088903 C A snp 1326.77 0/1 99 124 69 55 0.44 exonic rs1533595 RTP4 AU synonymous SNV NM_022147 exon2 c.C483A p.I161I 0.384585 0.7351 0.302245 0.3822 0.6930 Uncertain 3_187088926_G->A 3 187088926 187088926 G A snp 3488.77 1/1 99 121 0 121 1.0 exonic rs1533594 RTP4 AU nonsynonymous SNV NM_022147 exon2 c.G506A p.C169Y 0.801717 0.9613 0.774950 0.8339 0.9572 1 T 0.0 P -0.956 T 0.0 T 0.0 T Pathogenic 3_187089031_C->A 3 187089031 187089031 C A snp 928.77 0/1 99 94 52 42 0.45 exonic rs1003995 RTP4 AU nonsynonymous SNV NM_022147 exon2 c.C611A p.A204D 0.287939 0.4504 0.263109 0.3430 0.4229 0.3 T 0.0 P -0.924 T 0.718 T 0.22 P Pathogenic 3_187416253_C->T 3 187416253 187416253 C T snp 1214.77 1/1 90 37 0 37 1.0 UTR3 rs1523468 RTP2 AU 0.492013 0.7361 0.460551 0.6091 0.7682 Uncertain 3_187416634_C->A 3 187416634 187416634 C A snp 3159.77 1/1 99 106 0 106 1.0 exonic rs1973791 RTP2 AU synonymous SNV NM_001004312 exon2 c.G330T p.L110L 0.488419 0.7133 0.456301 0.5908 0.7484 Uncertain 3_187416719_T->C 3 187416719 187416719 T C snp 2726.77 1/1 99 100 0 100 1.0 exonic rs11707167 RTP2 AU nonsynonymous SNV NM_001004312 exon2 c.A245G p.Q82R 0.496805 0.7361 0.463325 0.5998 0.7683 0.35 T 0.0 P -1.041 T 0.001 T 0.004 T Pathogenic 3_187419661_-->CCTGCC 3 187419661 187419661 - CCTGCC indel 1957.73 1/1 66 22 0 22 1.0 intronic rs113681515 RTP2 AU NM_001004312 exon2 c.3467-91insCCTGCC 0.933506 1 Uncertain 3_187420445_C->T 3 187420445 187420445 C T snp 1755.77 1/1 99 57 0 57 1.0 ncRNA_intronic rs4389470 LOC100131635 AU 0.976637 1 Uncertain 3_187440506_C->A 3 187440506 187440506 C A snp 1729.77 1/1 99 52 0 52 1.0 ncRNA_intronic rs1005099 LOC100131635 AU 0.502796 0.7411 Uncertain 3_187440572_A->G 3 187440572 187440572 A G snp 114.77 0/1 99 9 5 4 0.44 ncRNA_intronic rs3774310 LOC100131635 AU 0.0291534 0.1111 Uncertain 3_187447032_G->A 3 187447032 187447032 G A snp 3970.77 1/1 99 154 3 151 0.98 exonic rs1056932 BCL6 AU synonymous SNV NM_001134738 exon4 c.C1161T p.N387N 0.565296 0.7956 0.497386 0.6435 0.8060 Uncertain 3_187447926_C->T 3 187447926 187447926 C T snp 823.77 1/1 60 23 0 23 1.0 ncRNA_intronic rs1491997 LOC100131635 AU 0.503594 0.7401 Uncertain 3_187451609_A->G 3 187451609 187451609 A G snp 1894.77 1/1 99 69 0 69 1.0 intronic rs1880101 BCL6 AU NM_001134738 exon7 c.11246+118A>G 0.976238 1 0.9919 1 Uncertain 3_187451701_T->C 3 187451701 187451701 T C snp 564.77 1/1 42 20 1 19 0.95 intronic rs1880100 BCL6 AU NM_001134738 exon7 c.11246+210T>C 0.502796 0.7351 Uncertain 3_187451709_C->T 3 187451709 187451709 C T snp 495.77 1/1 39 16 0 16 1.0 intronic rs1880099 BCL6 AU NM_001134738 exon7 c.11246+218C>T 0.502796 0.7351 Uncertain 3_187896912_G->A 3 187896912 187896912 G A snp 703.77 1/1 54 23 0 23 1.0 ncRNA_exonic rs13096262 FLJ42393 AU 0.552117 0.8631 Uncertain 3_187897059_G->A 3 187897059 187897059 G A snp 6203.77 1/1 99 220 0 220 1.0 ncRNA_exonic rs13096615 FLJ42393 AU 0.552117 0.8611 0.473938 0.5453 0.8668 0 D 0.0 P -1.008 T Uncertain 3_187897283_G->A 3 187897283 187897283 G A snp 3987.77 1/1 99 140 0 140 1.0 ncRNA_exonic rs13096994 FLJ42393 AU 0.217452 0.4038 0.090232 0.2022 0.4157 Uncertain 3_187897954_T->A 3 187897954 187897954 T A snp 421.77 1/1 33 11 0 11 1.0 ncRNA_exonic rs2127519 FLJ42393 AU 0.552117 0.8621 Uncertain 3_188202550_A->T 3 188202550 188202550 A T snp 1007.77 0/1 99 62 23 39 0.63 intronic rs2067078 LPP AU,AD NM_001167672 exon3 c.78584+58A>T 0.73123 0.6935 Uncertain 3_188202582_G->T 3 188202582 188202582 G T snp 1113.77 1/1 81 31 0 31 1.0 intronic rs1559814 LPP AU,AD NM_001167672 exon3 c.78584+90G>T 0.917931 1 Uncertain 3_188242689_T->G 3 188242689 188242689 T G snp 238.53 0/1 3 8 1 7 0.88 intronic rs57139663 LPP AU,AD NM_001167672 exon4 c.118667+114T>G 0.51897 0.498 Uncertain 3_188326926_-->T 3 188326926 188326926 - T indel 584.73 0/1 99 56 30 26 0.46 intronic rs148971918 LPP AU,AD NM_001167672 exon5 c.203040-22insT 0.188099 0.3244 0.144808 0.2126 0.3371 Uncertain 3_188327461_C->T 3 188327461 188327461 C T snp 2648.77 1/1 99 94 0 94 1.0 exonic rs1059380 LPP AU,AD synonymous SNV NM_005578 exon6 c.C942T p.D314D 0.586462 0.4355 0.625096 0.5843 0.4513 Uncertain 3_188464248_-->T 3 188464248 188464248 - T indel 5275.73 1/1 99 126 0 126 1.0 intronic rs3830584 LPP AU,AD NM_001167672 exon7 c.353992-13652insT 0.567692 0.8343 0.4900 0.8131 Uncertain 3_188478197_-->GTGTGT 3 188478197 188478197 - GTGTGT indel 421.74 1/1 26 27 0 27 1.0 intronic rs3841956 LPP AU,AD NM_001167672 exon7 c.354162+127insGTGTGT Uncertain 3_188478225_C->T 3 188478225 188478225 C T snp 37.77 0/1 66 7 5 2 0.29 intronic rs55675647 LPP AU,AD NM_001167672 exon7 c.354162+155C>T Uncertain 3_188478235_T->C 3 188478235 188478235 T C snp 56.74 1/1 6 2 0 2 1.0 intronic rs9844854 LPP AU,AD NM_001167672 exon7 c.354162+165T>C 0.842851 0.8929 Uncertain 3_188590358_C->T 3 188590358 188590358 C T snp 3902.77 1/1 99 147 0 147 1.0 intronic rs4687001 LPP AU,AD NM_001167672 exon9 c.466522-72C>T 0.946486 1 Uncertain 3_188590650_G->T 3 188590650 188590650 G T snp 296.78 1/1 24 8 0 8 1.0 intronic rs2278096 LPP AU,AD NM_001167672 exon9 c.466643+99G>T 0.354034 0.5327 Uncertain 3_188933213_C->T 3 188933213 188933213 C T snp 802.77 0/1 99 88 51 37 0.42 intronic rs3821734 TPRG1 AU NM_198485 exon3 c.7999+41C>T 0.291534 0.3988 0.274104 0.3218 0.4142 Uncertain 3_188956822_A->G 3 188956822 188956822 A G snp 56.74 1/1 6 3 0 3 1.0 ncRNA_intronic rs16864142 TPRG1-AS2 AU 0.184904 0.25 Uncertain 3_189033292_C->G 3 189033292 189033292 C G snp 1884.77 0/1 99 190 106 84 0.44 intronic rs6773831 TPRG1 AU NM_198485 exon5 c.103155+4964C>G 0.686502 0.4633 0.6105 0.4697 0.0 P -1.015 T Uncertain 3_189038648_T->C 3 189038648 189038648 T C snp 1120.77 0/1 99 133 86 47 0.35 UTR3 rs1055152 TPRG1 AU 0.623003 0.62 0.515767 0.4956 0.6365 Uncertain 3_189349247_A->T 3 189349247 189349247 A T snp 1260.77 0/1 99 103 50 53 0.51 UTR5 rs28673064 TP63 AD 0.48762 0.7361 0.458388 Uncertain 3_189584602_C->A 3 189584602 189584602 C A snp 1633.77 0/1 99 171 90 81 0.47 intronic rs138246371 TP63 AD NM_001114978 exon6 c.235282+16C>A 0.000998403 0.004 0.0003 0.0031 Uncertain 3_189688569_C->A 3 189688569 189688569 C A snp 183.77 0/1 99 28 18 10 0.36 intronic rs3732920 P3H2 AR NM_018192 exon3 c.12904-35C>A 0.46226 0.494 0.453111 0.4765 0.5146 Uncertain 3_189689904_A->G 3 189689904 189689904 A G snp 1353.77 1/1 65 49 1 48 0.98 intronic rs710543 P3H2 AR NM_018192 exon4 c.14096+108A>G 0.903554 0.9375 Uncertain 3_189690816_-->A 3 189690816 189690816 - A indel 448.73 1/1 59 41 0 41 1.0 splicing rs561837037 P3H2 AR NM_018192 exon5 c.15113+3insA 0.330272 0.4226 0.3570 0.4303 Pathogenic 3_189690826_-->C 3 189690826 189690826 - C indel 641.73 0/1 99 34 15 19 0.56 intronic rs200458285 P3H2 AR NM_018192 exon5 c.15113+13insC 0.209864 0.2937 0.187350 0.2197 0.2767 Uncertain 3_189690861_T->A 3 189690861 189690861 T A snp 548.77 1/1 42 15 0 15 1.0 intronic rs710545 P3H2 AR NM_018192 exon5 c.15113+48T>A 0.88099 0.9375 0.904799 0.8963 0.9387 Uncertain 3_189691499_G->A 3 189691499 189691499 G A snp 130.03 1/1 12 4 0 4 1.0 intronic rs1815171 P3H2 AR NM_018192 exon6 c.15997-198G>A 0.558506 0.7976 Uncertain 3_189692565_G->A 3 189692565 189692565 G A snp 2525.77 1/1 99 86 0 86 1.0 intronic rs1985690 P3H2 AR NM_018192 exon7 c.16774+91G>A 0.561302 0.7976 Uncertain 3_189702200_T->C 3 189702200 189702200 T C snp 564.77 0/1 99 35 15 20 0.57 intronic rs710558 P3H2 AR NM_018192 exon9 c.26638-138T>C 0.758387 0.9236 Uncertain 3_189702396_A->- 3 189702396 189702396 A - indel 366.73 0/1 99 67 41 26 0.39 intronic rs11311050 P3H2 AR NM_018192 exon9 c.26679+17delA 0.765375 0.9236 0.7997 0.9125 Uncertain 3_189705542_A->G 3 189705542 189705542 A G snp 588.77 0/1 99 45 20 25 0.56 intronic rs3114672 P3H2 AR NM_018192 exon11 c.29758+84A>G 0.776158 0.9306 Uncertain 3_189712089_G->A 3 189712089 189712089 G A snp 1221.77 1/1 87 42 0 42 1.0 intronic rs1719599 P3H2 AR NM_018192 exon13 c.36372+17G>A 0.760982 0.9355 0.697708 0.7847 0.9321 Uncertain 3_189712090_G->A 3 189712090 189712090 G A snp 1245.77 1/1 90 42 0 42 1.0 intronic rs1719598 P3H2 AR NM_018192 exon13 c.36372+18G>A 0.760982 0.9355 0.7844 0.9321 Uncertain 3_189713346_T->G 3 189713346 189713346 T G snp 155.77 0/1 63 7 2 5 0.71 intronic rs112063135 P3H2 AR NM_018192 exon14 c.37531+115T>G Uncertain 3_189837993_G->A 3 189837993 189837993 G A snp 435.77 0/1 99 49 29 20 0.41 intronic rs710596 P3H2 AR NM_018192 exon15 c.162340-47G>A 0.532548 0.6508 0.491690 0.5014 0.6446 Uncertain 3_189838018_G->T 3 189838018 189838018 G T snp 539.77 0/1 99 56 32 24 0.43 intronic rs35346557 P3H2 AR NM_018192 exon15 c.162340-22G>T 0.203674 0.1796 0.234349 0.2270 0.2019 Uncertain 3_190025964_C->T 3 190025964 190025964 C T snp 83.77 0/1 67 5 2 3 0.6 UTR3 rs3172404 CLDN1 AR 0.11262 0.0863 Uncertain 3_190030680_A->G 3 190030680 190030680 A G snp 2683.77 1/1 99 91 0 91 1.0 exonic rs9869263 CLDN1 AR synonymous SNV NM_021101 exon2 c.T369C p.G123G 0.811102 0.8224 0.821313 0.8334 0.8234 Uncertain 3_190157898_G->A 3 190157898 190157898 G A snp 695.77 0/1 99 43 20 23 0.53 intronic rs6767754 TMEM207 AU NM_207316 exon2 c.10649-134G>A 0.804912 0.6379 Uncertain 3_190282197_G->A 3 190282197 190282197 G A snp 3738.77 1/1 99 124 0 124 1.0 intronic rs6764468 IL1RAP AU NM_001167928 exon4 c.64+55G>A 0.539137 0.6607 0.559790 Uncertain 3_190333163_G->- 3 190333163 190333163 G - indel 3124.73 1/1 99 71 0 71 1.0 intronic rs35429399 IL1RAP AU NM_001167928 exon7 c.55985-4900delG 0.666534 0.8264 0.7113 0.8485 Uncertain 3_190341241_C->A 3 190341241 190341241 C A snp 3953.77 1/1 99 133 0 133 1.0 intronic rs4687160 IL1RAP AU NM_001167928 exon8 c.59126+37C>A 0.652955 0.8125 0.658696 0.7034 0.8149 Uncertain 3_190341292_C->T 3 190341292 190341292 C T snp 1664.77 1/1 99 49 0 49 1.0 intronic rs4687161 IL1RAP AU NM_001167928 exon8 c.59126+88C>T 0.59345 0.8125 Uncertain 3_190341342_A->G 3 190341342 190341342 A G snp 469.77 1/1 36 12 0 12 1.0 intronic rs4687162 IL1RAP AU NM_001167928 exon8 c.59126+138A>G 0.657348 0.8264 Uncertain 3_190345044_TTTTG->- 3 190345044 190345048 TTTTG - indel 498.75 1/1 24 8 0 8 1.0 intronic rs139454958 IL1RAP AU NM_001167928 exon9 c.63033-67_63033-63delTTTTG 0.9377 1 Uncertain 3_190345099_T->- 3 190345099 190345099 T - indel 1209.73 1/1 99 46 0 46 1.0 intronic rs34908328 IL1RAP AU NM_001167928 exon9 c.63033-12delT 0.921725 1 0.8721 0.9741 Uncertain 3_190347391_C->T 3 190347391 190347391 C T snp 2080.77 1/1 99 68 0 68 1.0 UTR3 rs7611887 IL1RAP AU 0.944289 1 Uncertain 3_190578566_A->G 3 190578566 190578566 A G snp 451.77 0/1 99 49 29 20 0.41 exonic rs13075089 GMNC AU nonsynonymous SNV NM_001146686 exon2 c.T85C p.S29P 0.444289 0.4484 0.394437 0.4361 0.4775 0.13 T 0.713 P -0.966 T 0.911 T 0.779 D Pathogenic 3_190580151_A->G 3 190580151 190580151 A G snp 314.78 1/1 24 10 0 10 1.0 intronic rs6444464 GMNC AU NM_001146686 exon5 c.7318-250A>G 0.132588 0.2579 Uncertain 3_190594309_G->A 3 190594309 190594309 G A snp 391.77 1/1 30 16 0 16 1.0 intergenic rs9880320 GMNC AU 0.460264 0.3621 Uncertain 3_190594334_A->G 3 190594334 190594334 A G snp 411.77 1/1 30 17 0 17 1.0 intergenic rs9842242 GMNC AU 0.460264 0.3621 Uncertain 3_190594452_A->C 3 190594452 190594452 A C snp 446.77 1/1 33 16 0 16 1.0 intergenic rs9842514 GMNC AU 0.459465 0.3631 Uncertain 3_190930196_C->T 3 190930196 190930196 C T snp 738.77 0/1 99 51 24 27 0.53 upstream rs78834434 OSTN AU 0.0650958 0.2113 Uncertain 3_190980797_A->G 3 190980797 190980797 A G snp 428.77 0/1 99 30 15 15 0.5 intergenic rs7644510 OSTN AU 0.358027 0.0972 Uncertain 3_190986110_C->T 3 190986110 190986110 C T snp 266.77 0/1 99 18 9 9 0.5 UTR3 rs10804933 UTS2B AU 0.410942 0.0982 Uncertain 3_190986388_C->T 3 190986388 190986388 C T snp 46.77 0/1 33 3 1 2 0.67 intronic rs6794154 UTS2B AU NM_198152 exon1 c.26+158C>T 0.779752 0.6379 Uncertain 3_190991384_G->A 3 190991384 190991384 G A snp 1781.77 0/1 99 163 84 79 0.48 intronic rs9857697 UTS2B AU NM_198152 exon2 c.6836-1656G>A 0.410942 0.0982 0.5245 0.0859 Uncertain 3_190991439_T->C 3 190991439 190991439 T C snp 1347.77 0/1 99 105 50 55 0.52 intronic rs9877400 UTS2B AU NM_198152 exon2 c.6836-1601T>C 0.411542 0.0992 Uncertain 3_190995847_T->C 3 190995847 190995847 T C snp 800.77 1/1 57 34 0 34 1.0 intronic rs3214008 UTS2B AU NM_198152 exon4 c.9656-13T>C 0.471246 0.5516 0.491139 0.6185 0.6039 Uncertain 3_190999760_A->C 3 190999760 190999760 A C snp 383.77 1/1 30 11 0 11 1.0 intronic rs6444532 UTS2B AU NM_198152 exon5 c.13671-115A>C 0.63778 0.5556 Uncertain 3_190999790_A->G 3 190999790 190999790 A G snp 1019.77 1/1 75 30 0 30 1.0 intronic rs6444533 UTS2B AU NM_198152 exon5 c.13671-85A>G 0.471446 0.5546 Uncertain 3_190999872_G->A 3 190999872 190999872 G A snp 3489.77 1/1 99 124 0 124 1.0 splicing rs6444534 UTS2B AU NM_198152 exon5 c.13671-3G>A 0.471446 0.5546 0.493080 0.5703 0.5527 Pathogenic 3_190999917_C->A 3 190999917 190999917 C A snp 4499.77 1/1 99 169 0 169 1.0 exonic rs6788319 UTS2B AU nonsynonymous SNV NM_198152 exon5 c.G62T p.S21I 0.471446 0.5546 0.492696 0.5692 0.5509 0.88 T 0.0 P -0.956 T 0.0 T 0.0 T Pathogenic 3_190999990_C->T 3 190999990 190999990 C T snp 3400.77 1/1 99 127 0 127 1.0 UTR5 rs6444535 UTS2B AU 0.471446 0.5546 0.491773 0.5803 0.5715 Uncertain 3_191047401_C->G 3 191047401 191047401 C G snp 655.77 0/1 99 66 38 28 0.42 UTR5 rs377067940 CCDC50 AD 0.00998403 0.0437 Uncertain 3_191047532_A->G 3 191047532 191047532 A G snp 3098.77 1/1 99 122 0 122 1.0 intronic rs9847278 CCDC50 AD NM_178335 exon1 c.49+20A>G 0.776757 0.9157 0.634992 0.6579 0.9300 Uncertain 3_191074873_C->G 3 191074873 191074873 C G snp 2214.77 1/1 99 80 0 80 1.0 splicing rs188384 CCDC50 AD NM_178335 exon2 c.27413-3C>G 0.770966 0.9157 0.622943 0.6259 0.9300 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000041445.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 3_191075649_A->G 3 191075649 191075649 A G snp 764.77 0/1 99 47 23 24 0.51 intronic rs28627146 CCDC50 AD NM_178335 exon3 c.28323-137A>G 0.238618 0.2212 Uncertain 3_191087551_G->A 3 191087551 191087551 G A snp 1946.77 1/1 99 60 0 60 1.0 intronic rs697905 CCDC50 AD NM_178335 exon5 c.40244-156G>A 0.754193 0.9117 Uncertain 3_191093053_T->C 3 191093053 191093053 T C snp 1708.77 0/1 99 146 83 63 0.43 exonic rs2028572 CCDC50 AD synonymous SNV NM_178335 exon6 c.T651C p.H217H 0.501997 0.4702 0.488928 0.4285 0.4568 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000041446.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 3_191093080_A->G 3 191093080 191093080 A G snp 2012.77 0/1 99 176 96 80 0.45 exonic rs2028573 CCDC50 AD synonymous SNV NM_178335 exon6 c.A678G p.K226K 0.230431 0.2212 0.185145 0.1281 0.2184 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000041447.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 3_191093175_T->A 3 191093175 191093175 T A snp 2168.77 0/1 99 177 83 94 0.53 exonic rs2028574 CCDC50 AD nonsynonymous SNV NM_178335 exon6 c.T773A p.I258N 0.501597 0.4702 0.488928 0.4284 0.4579 0.76 T 0.0 P -0.946 T 0.0 T 0.0 T CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000041448.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 3_191093310_A->G 3 191093310 191093310 A G snp 1034.77 0/1 99 71 29 42 0.59 exonic rs4677728 CCDC50 AD nonsynonymous SNV NM_178335 exon6 c.A908G p.K303R 0.502196 0.4702 0.488388 0.4294 0.4573 1 T 0.000 P -0.950 T 0.11 T 0.025 T CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000041449.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 3_191093384_A->G 3 191093384 191093384 A G snp 443.77 0/1 99 30 12 18 0.6 splicing rs4677729 CCDC50 AD NM_178335 exon6 c.45915+6A>G 0.501597 0.4702 0.483457 0.4344 0.4621 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000041450.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 3_191093434_A->G 3 191093434 191093434 A G snp 391.77 1/1 30 14 0 14 1.0 intronic rs293806 CCDC50 AD NM_178335 exon6 c.45915+56A>G 0.754193 0.9117 Uncertain 3_191093475_T->C 3 191093475 191093475 T C snp 77.77 0/1 66 6 3 3 0.5 intronic rs4677730 CCDC50 AD NM_178335 exon6 c.45915+97T>C 0.501597 0.4702 Uncertain 3_191097908_C->T 3 191097908 191097908 C T snp 350.77 0/1 85 16 4 12 0.75 intronic rs293812 CCDC50 AD NM_178335 exon7 c.50484-39C>T 0.644569 0.6865 0.580148 0.5639 0.7246 Uncertain 3_191097966_T->C 3 191097966 191097966 T C snp 839.77 0/1 99 47 11 36 0.77 exonic rs293813 CCDC50 AD nonsynonymous SNV NM_178335 exon7 c.T995C p.M332T 0.644569 0.6865 0.572582 0.5372 0.6832 0.5 T 0.0 P -1.007 T 0.0 T 0.001 T CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000041451.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 3_191098121_C->T 3 191098121 191098121 C T snp 472.77 0/1 99 36 15 21 0.58 intronic rs293814 CCDC50 AD NM_178335 exon7 c.50600+58C>T 0.644569 0.6865 Uncertain 3_191098539_C->G 3 191098539 191098539 C G snp 896.77 0/1 99 71 36 35 0.49 intronic rs1474188 CCDC50 AD NM_178335 exon8 c.51057+19C>G 0.109425 0.2242 0.034523 0.0893 0.2516 Uncertain 3_191098731_G->A 3 191098731 191098731 G A snp 526.77 0/1 99 72 47 25 0.35 intronic rs211043 CCDC50 AD NM_178335 exon9 c.51258+10G>A 0.644569 0.6865 0.572242 0.5636 0.7053 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000041440.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 3_191100448_G->T 3 191100448 191100448 G T snp 220.77 0/1 99 29 21 8 0.28 intronic rs383529 CCDC50 AD NM_178335 exon10 c.53071-86G>T 0.644569 0.6865 Uncertain 3_191100561_C->A 3 191100561 191100561 C A snp 1722.77 0/1 99 146 72 74 0.51 exonic rs364519 CCDC50 AD synonymous SNV NM_178335 exon10 c.C1269A p.S423S 0.644968 0.6865 0.572351 0.5337 0.6790 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000041441.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 3_191100642_A->T 3 191100642 191100642 A T snp 2068.77 0/1 99 195 100 95 0.49 intronic rs9838011 CCDC50 AD NM_178335 exon10 c.53151+28A>T 0.230831 0.2192 0.184684 0.1286 0.2179 Uncertain 3_191107192_A->G 3 191107192 191107192 A G snp 967.77 0/1 99 68 33 35 0.51 intronic rs436393 CCDC50 AD NM_178335 exon11 c.59821-92A>G 0.355232 0.3125 Uncertain 3_191179193_A->G 3 191179193 191179193 A G snp 3284.77 1/1 99 125 0 125 1.0 exonic rs293833 PYDC2 AU nonsynonymous SNV NM_001083308 exon1 c.A242G p.Q81R 0.629992 0.4196 0.754434 0.6885 0.4094 1 T 0.0 P -0.958 T 0.0 T 0.0 T Pathogenic 3_191179303_C->T 3 191179303 191179303 C T snp 1454.77 1/1 99 54 0 54 1.0 ncRNA_intronic rs176823 LINCR-0002 AU 0.629193 0.4196 Uncertain 3_191888453_A->- 3 191888453 191888453 A - indel 164.73 0/1 99 44 14 30 0.68 intronic rs34265167 FGF12 AD NM_004113 exon2 c.26648+8delA 0.437899 0.4276 0.4192 0.4345 Uncertain 3_192053274_G->A 3 192053274 192053274 G A snp 1109.77 1/1 81 36 0 36 1.0 intronic rs4571187 FGF12 AD NM_004113 exon3 c.191456+21G>A 0.500799 0.622 0.392742 0.3979 0.6555 Uncertain 3_192125768_A->G 3 192125768 192125768 A G snp 1133.77 0/1 99 84 35 49 0.58 intronic rs2249551 FGF12 AD NM_021032 exon5 c.264016-45A>G 0.509585 0.6409 0.407246 0.4218 0.6484 Uncertain 3_192444899_C->A 3 192444899 192444899 C A snp 1367.77 0/1 99 96 46 50 0.52 intergenic rs13060864 FGF12 AD 0.253195 0.3938 0.234341 Uncertain 3_192981098_C->G 3 192981098 192981098 C G snp 173.77 0/1 99 12 6 6 0.5 intronic rs186147038 HRASLS AU NM_020386 exon3 c.22017+74C>G 0.000399361 0.002 Uncertain 3_192993762_C->A 3 192993762 192993762 C A snp 277.77 0/1 99 29 19 10 0.34 intronic rs13084990 ATP13A5 AU NM_198505 exon1 c.261+671C>A 0.402955 0.4385 Uncertain 3_192994543_A->G 3 192994543 192994543 A G snp 356.77 0/1 99 30 12 18 0.6 exonic rs2271791 ATP13A5 AU nonsynonymous SNV NM_198505 exon29 c.T3392C p.V1131A 0.332268 0.3621 0.369060 0.4362 0.3557 0.31 T 0.972 P -0.932 T 0.003 T 0.008 T Pathogenic 3_192994757_A->G 3 192994757 192994757 A G snp 41.77 0/1 70 5 3 2 0.4 intronic rs11927848 ATP13A5 AU NM_198505 exon2 c.1789+138A>G 0.51258 0.5427 Uncertain 3_193007560_G->A 3 193007560 193007560 G A snp 82.77 0/1 99 7 3 4 0.57 intronic rs12152269 ATP13A5 AU NM_198505 exon5 c.14843-113G>A 0.498802 0.5407 Uncertain 3_193016895_T->C 3 193016895 193016895 T C snp 1166.77 1/1 84 38 0 38 1.0 intronic rs1878716 ATP13A5 AU NM_198505 exon6 c.24089-24T>C 0.892572 0.9802 0.840514 0.8728 0.9858 Uncertain 3_193017204_C->T 3 193017204 193017204 C T snp 74.77 0/1 99 8 5 3 0.38 intronic rs6805083 ATP13A5 AU NM_198505 exon6 c.24162+212C>T 0.427117 0.5625 Uncertain 3_193023255_C->T 3 193023255 193023255 C T snp 720.77 0/1 99 40 14 26 0.65 intronic rs10937578 ATP13A5 AU NM_198505 exon8 c.30517-92C>T 0.371805 0.3611 Uncertain 3_193023586_A->- 3 193023586 193023586 A - indel 876.73 0/1 99 53 24 29 0.55 intronic rs5855481 ATP13A5 AU NM_198505 exon8 c.30627+129delA 0.520367 0.619 Uncertain 3_193031926_C->T 3 193031926 193031926 C T snp 2638.77 1/1 99 92 0 92 1.0 exonic rs2280268 ATP13A5 AU nonsynonymous SNV NM_198505 exon19 c.G2215A p.G739S 0.530751 0.6508 0.539059 0.5967 0.6451 1 T 0.0 P -0.918 T 0.053 T 0.07 T ID=CM153539;DIS=Hailey-Hailey disease, modifier of;TAG=DM?;PUB=25837627 DM? Pathogenic 3_193036794_G->C 3 193036794 193036794 G C snp 2298.77 1/1 99 86 0 86 1.0 exonic rs6788770 ATP13A5 AU synonymous SNV NM_198505 exon17 c.C2019G p.V673V 0.895966 0.9821 0.848762 0.8495 0.9865 Uncertain 3_193042776_T->C 3 193042776 193042776 T C snp 4781.77 1/1 99 185 0 185 1.0 exonic rs11926955 ATP13A5 AU synonymous SNV NM_198505 exon14 c.A1551G p.S517S 0.895367 0.9821 0.848224 0.8495 0.9864 Uncertain 3_193042964_G->A 3 193042964 193042964 G A snp 398.77 1/1 30 12 0 12 1.0 intronic rs11715170 ATP13A5 AU NM_198505 exon17 c.49973+161G>A 0.570687 0.6438 Uncertain 3_193044923_T->C 3 193044923 193044923 T C snp 477.77 1/1 36 15 0 15 1.0 intronic rs1387700 ATP13A5 AU NM_198505 exon18 c.52016+77T>C 0.892971 0.9821 Uncertain 3_193062906_G->A 3 193062906 193062906 G A snp 3036.77 1/1 99 92 0 92 1.0 intronic rs6444706 ATP13A5 AU NM_198505 exon23 c.70034+42G>A 0.951877 0.9643 0.942873 0.9528 0.9620 Uncertain 3_193068737_A->G 3 193068737 193068737 A G snp 120.77 0/1 64 6 2 4 0.67 intronic rs1038718 ATP13A5 AU NM_198505 exon24 c.76025-118A>G 0.51238 0.3909 Uncertain 3_193068800_G->A 3 193068800 193068800 G A snp 554.77 0/1 99 52 30 22 0.42 intronic rs1038719 ATP13A5 AU NM_198505 exon24 c.76025-55G>A 0.513978 0.3968 Uncertain 3_193069125_G->C 3 193069125 193069125 G C snp 490.77 0/1 99 32 14 18 0.56 intronic rs55658952 ATP13A5 AU NM_198505 exon24 c.76160+135G>C 0.426717 0.5675 Uncertain 3_193071889_A->- 3 193071889 193071889 A - indel 1233.73 0/1 99 67 19 48 0.72 intronic rs11300573 ATP13A5 AU NM_198505 exon25 c.79085-26delA 0.514377 0.3968 0.5538 0.4692 Uncertain 3_193080414_C->G 3 193080414 193080414 C G snp 4651.77 1/1 99 149 0 149 1.0 exonic rs6797429 ATP13A5 AU nonsynonymous SNV NM_198505 exon4 c.G397C p.E133Q 0.513778 0.3859 0.551053 0.5117 0.4000 0.72 T 0.0 P -0.995 T 0.0 T 0.001 T Pathogenic 3_193081206_G->A 3 193081206 193081206 G A snp 1403.77 1/1 99 39 0 39 1.0 intronic rs2367605 ATP13A5 AU NM_198505 exon28 c.88341+35G>A 0.522165 0.3859 0.559665 0.5177 0.4004 Uncertain 3_193081830_A->G 3 193081830 193081830 A G snp 1381.77 1/1 99 43 0 43 1.0 intronic rs923496 ATP13A5 AU NM_198505 exon29 c.89065-65A>G 0.954073 0.9623 Uncertain 3_193081866_T->A 3 193081866 193081866 T A snp 2236.77 1/1 99 73 0 73 1.0 intronic rs4386441 ATP13A5 AU NM_198505 exon29 c.89065-29T>A 0.663738 0.7401 0.653621 0.6777 0.7560 Uncertain 3_193090101_-->AGG 3 193090101 193090101 - AGG indel 542.75 0/1 24 21 5 16 0.76 intronic rs57458521 ATP13A5 AU NM_198505 exon30 c.103621-6350insAGG 0.1018 0.0476 Uncertain 3_193090255_C->T 3 193090255 193090255 C T snp 1602.77 1/1 99 54 0 54 1.0 intronic rs2171848 ATP13A5 AU NM_198505 exon30 c.103621-6196C>T 0.966853 0.9623 Uncertain 3_193090260_T->C 3 193090260 193090260 T C snp 1557.77 1/1 99 53 0 53 1.0 intronic rs6444712 ATP13A5 AU NM_198505 exon30 c.103621-6191T>C 0.94349 0.9603 Uncertain 3_193096529_C->T 3 193096529 193096529 C T snp 1914.77 1/1 99 70 0 70 1.0 upstream rs4687419 ATP13A5 AU 0.670327 0.755 0.657773 0.6822 0.7659 Uncertain 3_193129807_G->A 3 193129807 193129807 G A snp 94.77 0/1 99 18 13 5 0.28 intronic rs6763501 ATP13A4 AU NM_032279 exon4 c.9526-159G>A 0.334864 0.5179 Uncertain 3_193153562_T->C 3 193153562 193153562 T C snp 1936.77 1/1 99 65 0 65 1.0 intronic rs1996735 ATP13A4 AU NM_032279 exon7 c.33093+29T>C 0.733826 0.6091 0.769952 0.7570 0.6030 Uncertain 3_193160474_A->T 3 193160474 193160474 A T snp 96.28 1/1 9 3 0 3 1.0 intronic rs9849997 ATP13A4 AU NM_032279 exon12 c.39905+129A>T 0.708466 0.6091 Uncertain 3_193180400_A->C 3 193180400 193180400 A C snp 659.77 0/1 99 49 27 22 0.45 intronic rs56312820 ATP13A4 AU NM_032279 exon18 c.60110-150A>C 0.55651 0.5446 Uncertain 3_193180510_G->T 3 193180510 193180510 G T snp 2631.77 0/1 99 238 123 115 0.48 intronic rs62285744 ATP13A4 AU NM_032279 exon18 c.60110-40G>T 0.238818 0.2897 0.173997 0.2308 0.2786 Uncertain 3_193180592_G->A 3 193180592 193180592 G A snp 2508.77 0/1 99 205 101 104 0.51 exonic rs59451116 ATP13A4 AU synonymous SNV NM_032279 exon13 c.C1482T p.D494D 0.294928 0.3046 0.222743 0.2509 0.3023 Uncertain 3_193180661_C->T 3 193180661 193180661 C T snp 1011.77 0/1 99 68 31 37 0.54 intronic rs60585505 ATP13A4 AU NM_032279 exon18 c.60172+49C>T 0.294728 0.3036 0.222820 0.2506 0.3038 Uncertain 3_193180732_A->G 3 193180732 193180732 A G snp 50.74 1/1 6 2 0 2 1.0 intronic rs9825186 ATP13A4 AU NM_032279 exon18 c.60172+120A>G 0.510982 0.4643 Uncertain 3_193183817_A->G 3 193183817 193183817 A G snp 1102.77 0/1 99 104 54 50 0.48 exonic rs3796181 ATP13A4 AU synonymous SNV NM_032279 exon11 c.T1269C p.S423S 0.554113 0.5387 0.510457 0.4818 0.5095 Uncertain 3_193201582_C->A 3 193201582 193201582 C A snp 195.8 0/1 21 7 1 6 0.86 intronic rs9842836 ATP13A4 AU NM_032279 exon23 c.81284-142C>A 0.476438 0.4454 Uncertain 3_193209018_G->A 3 193209018 193209018 G A snp 534.77 0/1 99 49 28 21 0.43 intronic rs5015036 ATP13A4 AU NM_032279 exon25 c.88677-99G>A 0.177117 0.3403 Uncertain 3_193209178_T->C 3 193209178 193209178 T C snp 2474.77 1/1 99 93 1 92 0.99 exonic rs6788448 ATP13A4 AU nonsynonymous SNV NM_032279 exon6 c.A543G p.I181M 0.471446 0.4673 0.441796 0.4274 0.4431 0.1 T 0.891 P -0.935 T 0.999 D 0.989 D Pathogenic 3_193210768_A->G 3 193210768 193210768 A G snp 572.77 1/1 42 18 0 18 1.0 exonic rs2130407 ATP13A4 AU synonymous SNV NM_032279 exon5 c.T471C p.L157L 0.527356 0.5476 0.479699 0.4503 0.5198 Uncertain 3_193220219_A->T 3 193220219 193220219 A T snp 669.77 0/1 99 35 14 21 0.6 intronic rs66855900 ATP13A4 AU NM_032279 exon28 c.99841-62A>T 0.220248 0.3413 Uncertain 3_193272443_GTGTGT->- 3 193272443 193272448 GTGTGT - indel 926.74 0/1 25 19 4 15 0.79 ncRNA_exonic rs113367741 ATP13A4-AS1 AU Uncertain 3_193355074_T->C 3 193355074 193355074 T C snp 884.77 1/1 63 34 0 34 1.0 splicing rs166850 OPA1 AU,AD,AR NM_130835 exon9 c.43904+4T>C 0.922923 0.9534 0.871367 0.8718 0.9609 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter|criteria_provided\x2c_single_submitter;CLNACC=RCV000081773.3|RCV000127276.1;CLNDSDB=MedGen|MedGen;CLNDSDBID=CN169374|CN221809 Pathogenic 3_194061826_C->T 3 194061826 194061826 C T snp 622.77 0/1 99 52 25 27 0.52 exonic rs11711157 CPN2 AU nonsynonymous SNV NM_001080513 exon2 c.G1606A p.V536M 0.284545 0.3175 0.248424 0.2944 0.3431 0 D 0.225 P -0.961 T 0.918 T 0.063 D Pathogenic 3_194061906_T->C 3 194061906 194061906 T C snp 2077.77 1/1 99 79 0 79 1.0 exonic rs4974538 CPN2 AU nonsynonymous SNV NM_001080513 exon2 c.A1526G p.Q509R 0.810503 0.8145 0.829079 0.8171 0.8323 1 T 0.0 P -0.959 T 0.0 T 0.0 T Pathogenic 3_194061907_G->A 3 194061907 194061907 G A snp 881.77 0/1 99 80 41 39 0.49 exonic rs4974539 CPN2 AU stopgain NM_001080513 exon2 c.C1525T p.Q509X 0.280152 0.38 0.344533 0.3331 0.3856 0.55 T 1.000 P Pathogenic 3_194062519_C->T 3 194062519 194062519 C T snp 2144.77 0/1 99 151 67 84 0.56 exonic rs3732477 CPN2 AU nonsynonymous SNV NM_001080513 exon2 c.G913A p.A305T 0.366414 0.3185 0.325850 0.3145 0.3444 0.98 T 0.0 P -0.998 T 0.017 T 0.009 T Pathogenic 3_194062565_C->T 3 194062565 194062565 C T snp 4955.77 1/1 99 170 0 170 1.0 exonic rs3732476 CPN2 AU synonymous SNV NM_001080513 exon2 c.G867A p.P289P 0.625799 0.6974 0.649316 0.6405 0.7243 Uncertain 3_194063153_G->A 3 194063153 194063153 G A snp 1965.77 0/1 99 195 112 83 0.43 exonic rs3732474 CPN2 AU synonymous SNV NM_001080513 exon2 c.C279T p.F93F 0.259585 0.376 0.323005 0.3244 0.3785 Uncertain 3_194063300_T->C 3 194063300 194063300 T C snp 4865.77 1/1 99 178 0 178 1.0 exonic rs62288099 CPN2 AU synonymous SNV NM_001080513 exon2 c.A132G p.P44P 0.776957 0.7857 0.817392 0.7973 0.8001 Uncertain 3_194117590_G->A 3 194117590 194117590 G A snp 706.77 0/1 99 52 27 25 0.48 exonic rs78332923 GP5 AU synonymous SNV NM_004488 exon2 c.C1422T p.G474G 0.0954473 0.0704 0.065905 0.0361 0.0771 Uncertain 3_194118874_T->C 3 194118874 194118874 T C snp 5977.77 1/1 99 211 0 211 1.0 exonic rs1223989 GP5 AU synonymous SNV NM_004488 exon2 c.A138G p.L46L 0.989816 1 0.965823 0.9704 0.9998 Uncertain 3_194119047_A->- 3 194119047 194119047 A - indel 3914.73 0/1 99 218 113 105 0.48 intronic rs148391579 GP5 AU NM_004488 exon1 c.1685+34delA 0.0569089 0.0685 0.036736 0.0341 0.0936 Uncertain 3_194119168_A->G 3 194119168 194119168 A G snp 104.77 0/1 99 10 6 4 0.4 intronic rs60085137 GP5 AU NM_004488 exon1 c.1685+155A>G 0.0585064 0.0685 Uncertain 3_194133121_G->C 3 194133121 194133121 G C snp 411.77 0/1 99 23 8 15 0.65 intronic rs9855721 ATP13A3 AU NM_024524 exon2 c.7840-1366G>C 0.439297 0.2788 Uncertain 3_194149417_G->A 3 194149417 194149417 G A snp 46.78 0/1 27 4 1 3 0.75 intronic rs73889867 ATP13A3 AU NM_024524 exon6 c.22926-156G>A 0.0345447 0.0744 Uncertain 3_194152378_T->- 3 194152378 194152378 T - indel 668.73 0/1 99 70 44 26 0.37 intronic rs3841918 ATP13A3 AU NM_024524 exon12 c.25798-67delT 0.0355431 0.0734 Uncertain 3_194168500_G->C 3 194168500 194168500 G C snp 276.77 0/1 99 28 17 11 0.39 intronic rs9861816 ATP13A3 AU NM_024524 exon21 c.41933-80G>C 0.441294 0.2917 Uncertain 3_194176712_C->A 3 194176712 194176712 C A snp 234.77 0/1 99 45 32 13 0.29 intronic rs4974520 ATP13A3 AU NM_024524 exon26 c.50044+21C>A 0.35024 0.2937 0.267857 0.2567 0.2957 Uncertain 3_194180290_G->A 3 194180290 194180290 G A snp 576.77 0/1 99 50 24 26 0.52 intronic rs79943531 ATP13A3 AU NM_024524 exon28 c.53623+20G>A 0.0333466 0.0734 0.012394 0.0186 0.0674 Uncertain 3_194180743_G->T 3 194180743 194180743 G T snp 435.77 0/1 99 35 20 15 0.43 intronic rs4974521 ATP13A3 AU NM_024524 exon29 c.54053+43G>T 0.396765 0.2937 0.315871 0.2786 0.2997 Uncertain 3_194182791_A->C 3 194182791 194182791 A C snp 832.77 0/1 99 60 26 34 0.57 intronic rs56695107 ATP13A3 AU NM_024524 exon31 c.56221-77A>C 0.129393 0.0744 Uncertain 3_194219359_A->G 3 194219359 194219359 A G snp 1478.77 0/1 99 155 93 62 0.4 intergenic rs72607889 LINC00884 AU 0.109425 0.3155 Uncertain 3_194219732_G->A 3 194219732 194219732 G A snp 634.77 1/1 48 26 0 26 1.0 intergenic rs2002762 LINC00884 AU 0.33726 0.625 0.4045 0.7857 Uncertain 3_194219913_A->G 3 194219913 194219913 A G snp 54.74 1/1 6 2 0 2 1.0 intergenic rs2153519 LINC00884 AU 0.738618 0.875 Uncertain 3_194309528_G->A 3 194309528 194309528 G A snp 298.77 0/1 99 18 7 11 0.61 ncRNA_intronic rs789837 TMEM44-AS1 AU 0.250998 0.2996 Uncertain 3_194313632_G->A 3 194313632 194313632 G A snp 613.77 0/1 99 57 32 25 0.44 intronic rs7373172 TMEM44 AU NM_138399 exon2 c.4512-137G>A 0.321086 0.5179 Uncertain 3_194313832_T->C 3 194313832 194313832 T C snp 1900.77 1/1 99 65 0 65 1.0 intronic rs1773184 TMEM44 AU NM_138399 exon2 c.4542+33T>C 0.949081 0.9702 0.918730 0.9235 0.9725 Uncertain 3_194324939_A->G 3 194324939 194324939 A G snp 409.77 0/1 99 28 13 15 0.54 intronic rs6768028 TMEM44 AU NM_001011655 exon2 c.15758-76A>G 0.482228 0.753 Uncertain 3_194324982_C->A 3 194324982 194324982 C A snp 931.77 0/1 99 70 30 40 0.57 intronic rs745171 TMEM44 AU NM_001011655 exon2 c.15758-33C>A 0.453874 0.751 0.296708 0.4152 0.7552 Uncertain 3_194325006_A->G 3 194325006 194325006 A G snp 866.77 0/1 99 94 52 42 0.45 intronic rs732124 TMEM44 AU NM_001011655 exon2 c.15758-9A>G 0.226837 0.1984 0.317662 0.3715 0.2802 Uncertain 3_194325010_G->A 3 194325010 194325010 G A snp 1200.77 0/1 99 98 46 52 0.53 splicing rs745168 TMEM44 AU NM_001011655 exon2 c.15758-5G>A 0.453275 0.751 0.302932 0.4395 0.7767 Pathogenic 3_194325325_C->T 3 194325325 194325325 C T snp 261.8 1/1 21 9 0 9 1.0 intronic rs708632 TMEM44 AU NM_001011655 exon2 c.15917+151C>T 0.949081 0.9663 Uncertain 3_194325383_C->T 3 194325383 194325383 C T snp 56.74 1/1 6 2 0 2 1.0 intronic rs745170 TMEM44 AU NM_001011655 exon2 c.15917+209C>T 0.461661 0.751 Uncertain 3_194331875_A->T 3 194331875 194331875 A T snp 433.77 0/1 99 38 19 19 0.5 intronic rs789993 TMEM44 AU NM_001011655 exon3 c.22492+126A>T 0.272963 0.1667 Uncertain 3_194337708_T->G 3 194337708 194337708 T G snp 208.78 0/1 24 10 2 8 0.8 intronic rs10933663 TMEM44 AU NM_001011655 exon5 c.28570-119T>G 0.50639 0.751 Uncertain 3_194337901_T->C 3 194337901 194337901 T C snp 838.77 1/1 60 32 0 32 1.0 exonic rs922282 TMEM44 AU nonsynonymous SNV NM_001011655 exon6 c.A710G p.Q237R 0.888578 0.8958 0.874057 0.8915 0.9232 1 T 0.0 P -0.995 T 0.0 T 0.001 T Pathogenic 3_194338423_C->T 3 194338423 194338423 C T snp 1318.77 0/1 99 128 73 55 0.43 exonic rs12695036 TMEM44 AU nonsynonymous SNV NM_001166305 exon6 c.G695A p.R232H 0.48123 0.75 0.278800 0.4393 0.7242 0.38 T 0.0 P -0.991 T Pathogenic 3_194338538_A->T 3 194338538 194338538 A T snp 43.77 0/1 70 4 2 2 0.5 intronic rs12632700 TMEM44 AU NM_001166305 exon6 c.29248+33A>T 0.490415 0.75 0.338809 0.4377 0.7194 Uncertain 3_194346489_G->C 3 194346489 194346489 G C snp 312.77 0/1 99 35 23 12 0.34 intronic rs57336915 TMEM44 AU NM_001011655 exon8 c.37368-136G>C 0.167332 0.2837 Uncertain 3_194346544_T->A 3 194346544 194346544 T A snp 3691.77 1/1 99 123 0 123 1.0 intronic rs1773191 TMEM44 AU NM_001011655 exon8 c.37368-81T>A 0.832668 0.9633 Uncertain 3_194346553_T->C 3 194346553 194346553 T C snp 3948.77 1/1 99 137 0 137 1.0 intronic rs1773190 TMEM44 AU NM_001011655 exon8 c.37368-72T>C 0.832668 0.9633 Uncertain 3_194346803_A->G 3 194346803 194346803 A G snp 1676.77 1/1 99 48 0 48 1.0 intronic rs1773189 TMEM44 AU NM_001011655 exon8 c.37462+84A>G 0.832668 0.9633 Uncertain 3_194346822_G->A 3 194346822 194346822 G A snp 388.77 0/1 99 32 19 13 0.41 intronic rs1572979 TMEM44 AU NM_001011655 exon8 c.37462+103G>A 0.317492 0.4226 Uncertain 3_194349027_A->G 3 194349027 194349027 A G snp 287.77 0/1 99 16 7 9 0.56 intronic rs1318216 TMEM44 AU NM_001011655 exon9 c.39854-84A>G 0.626997 0.5685 Uncertain 3_194349178_C->T 3 194349178 194349178 C T snp 1881.77 0/1 99 135 54 81 0.6 exonic rs1563970 TMEM44 AU synonymous SNV NM_001011655 exon2 c.G198A p.A66A 0.345847 0.4385 0.309780 0.3713 0.4873 Uncertain 3_194353772_-->CCGCCCGACAG 3 194353772 194353772 - CCGCCCGACAG indel 1639.73 0/1 99 21 8 13 0.62 intronic rs11273892 TMEM44 AU NM_001011655 exon10 c.44550-35insCCGCCCGACAG 0.714457 0.6905 0.706799 0.7153 0.6821 Uncertain 3_194354032_G->C 3 194354032 194354032 G C snp 96.28 1/1 9 3 0 3 1.0 UTR5 rs6437392 TMEM44 AU 0.88119 0.9653 Uncertain 3_194369579_C->A 3 194369579 194369579 C A snp 934.77 0/1 99 94 55 39 0.41 intronic rs3821402 LSG1 AU NM_018385 exon4 c.6737+46C>A 0.155351 0.1875 0.042134 0.1682 0.1806 Uncertain 3_194369580_C->A 3 194369580 194369580 C A snp 860.77 0/1 99 94 55 39 0.41 intronic rs3821403 LSG1 AU NM_018385 exon4 c.6737+47C>A 0.155351 0.1875 0.043518 0.1682 0.1806 Uncertain 3_194371496_G->A 3 194371496 194371496 G A snp 35.77 0/1 64 6 4 2 0.33 intronic rs1773206 LSG1 AU NM_018385 exon5 c.8813-113G>A 0.427516 0.4385 Uncertain 3_194373832_T->C 3 194373832 194373832 T C snp 6549.77 1/1 99 234 0 234 1.0 exonic rs1675953 LSG1 AU nonsynonymous SNV NM_018385 exon8 c.A799G p.K267E 0.634585 0.8651 0.588190 0.6770 0.8669 1 T 0.0 P -0.952 T 0.0 T 0.0 T Pathogenic 3_194373833_G->A 3 194373833 194373833 G A snp 6480.77 1/1 99 232 0 232 1.0 exonic rs1705991 LSG1 AU synonymous SNV NM_018385 exon8 c.C798T p.T266T 0.634185 0.8651 0.587883 0.6765 0.8669 Uncertain 3_194374016_C->G 3 194374016 194374016 C G snp 222.84 1/1 18 6 0 6 1.0 intronic rs9829168 LSG1 AU NM_018385 exon7 c.11075+145C>G 0.634385 0.8651 Uncertain 3_194379515_G->A 3 194379515 194379515 G A snp 111.77 0/1 99 7 3 4 0.57 intronic rs9817204 LSG1 AU NM_018385 exon8 c.16889-170G>A 0.20008 0.4236 Uncertain 3_194379567_A->G 3 194379567 194379567 A G snp 1035.77 1/1 75 33 0 33 1.0 intronic rs1675948 LSG1 AU NM_018385 exon8 c.16889-118A>G 0.63758 0.8651 Uncertain 3_194379596_C->A 3 194379596 194379596 C A snp 2039.77 1/1 99 62 0 62 1.0 intronic rs1705971 LSG1 AU NM_018385 exon8 c.16889-89C>A 0.63738 0.8651 Uncertain 3_194379646_-->C 3 194379646 194379646 - C indel 4666.73 1/1 99 121 0 121 1.0 intronic rs11438897 LSG1 AU NM_018385 exon8 c.16889-39insC 0.63738 0.8651 0.589682 0.6786 0.8677 Uncertain 3_194379906_A->- 3 194379906 194379906 A - indel 1019.73 1/1 90 32 0 32 1.0 intronic rs11357453 LSG1 AU NM_018385 exon8 c.17066+44delA 0.63738 0.8651 0.590030 0.6794 0.8681 Uncertain 3_194379959_T->C 3 194379959 194379959 T C snp 298.78 1/1 24 8 0 8 1.0 intronic rs1773194 LSG1 AU NM_018385 exon8 c.17066+97T>C 0.637181 0.8651 Uncertain 3_194381530_A->G 3 194381530 194381530 A G snp 922.77 1/1 69 34 0 34 1.0 intronic rs1705969 LSG1 AU NM_018385 exon9 c.18066+668A>G 0.766973 0.9395 Uncertain 3_194381680_G->A 3 194381680 194381680 G A snp 1036.77 1/1 75 37 0 37 1.0 intronic rs1675947 LSG1 AU NM_018385 exon9 c.18066+818G>A 0.630591 0.8651 Uncertain 3_194381716_G->C 3 194381716 194381716 G C snp 620.77 1/1 45 22 0 22 1.0 intronic rs1705968 LSG1 AU NM_018385 exon9 c.18066+854G>C 0.637979 0.8651 Uncertain 3_194381742_C->T 3 194381742 194381742 C T snp 517.77 1/1 39 18 0 18 1.0 intronic rs1705967 LSG1 AU NM_018385 exon9 c.18066+880C>T 0.637979 0.8651 Uncertain 3_194386136_C->T 3 194386136 194386136 C T snp 800.77 1/1 60 25 0 25 1.0 intronic rs1705966 LSG1 AU NM_018385 exon10 c.23489-149C>T 0.667133 0.8651 Uncertain 3_194386881_A->G 3 194386881 194386881 A G snp 3652.77 1/1 99 143 0 143 1.0 intronic rs1675944 LSG1 AU NM_018385 exon11 c.24135-50A>G 0.765575 0.9395 0.706366 0.7655 0.9427 Uncertain 3_194387300_C->T 3 194387300 194387300 C T snp 976.77 0/1 99 85 49 36 0.42 exonic rs1675943 LSG1 AU synonymous SNV NM_018385 exon3 c.G228A p.E76E 0.42512 0.4405 0.451484 0.4785 0.3876 Uncertain 3_194390617_G->C 3 194390617 194390617 G C snp 1043.77 1/1 42 34 1 33 0.97 intronic rs1773230 LSG1 AU NM_018385 exon13 c.27941-120G>C 0.667332 0.8651 Uncertain 3_194390713_C->A 3 194390713 194390713 C A snp 3872.77 1/1 99 146 0 146 1.0 intronic rs1675926 LSG1 AU NM_018385 exon13 c.27941-24C>A 0.773562 0.9395 0.711287 0.7661 0.9423 Uncertain 3_194390869_-->A 3 194390869 194390869 - A indel 2194.73 1/1 99 78 0 78 1.0 splicing rs36028600 LSG1 AU NM_018385 exon13 c.28068+5insA 0.667133 0.8651 0.624261 0.6876 0.8679 Pathogenic 3_194392600_A->G 3 194392600 194392600 A G snp 320.77 0/1 99 21 11 10 0.48 intronic rs549675840 LSG1 AU NM_018385 exon14 c.29996-192A>G Uncertain 3_194392683_A->C 3 194392683 194392683 A C snp 4099.77 1/1 99 135 0 135 1.0 intronic rs1773231 LSG1 AU NM_018385 exon14 c.29996-109A>C 0.780152 0.9514 Uncertain 3_194408704_A->G 3 194408704 194408704 A G snp 1416.77 0/1 99 165 92 73 0.44 exonic rs4677673 FAM43A AU synonymous SNV NM_153690 exon1 c.A1149G p.S383S 0.714856 0.7728 0.703661 0.6559 0.7845 Uncertain 3_194842785_C->G 3 194842785 194842785 C G snp 1511.77 0/1 99 170 97 73 0.43 intronic rs60922537 XXYLT1 AU NM_152531 exon2 c.86734-34392C>G 0.339457 0.4603 0.2037 0.4439 0.04 T 0.0 P -0.933 T 0.0 T 0.0 T Uncertain 3_194842876_C->T 3 194842876 194842876 C T snp 1949.77 0/1 99 152 69 83 0.55 intronic rs12633541 XXYLT1 AU NM_152531 exon2 c.86734-34301C>T 0.0491214 0.1141 0.0665 0.0909 0.07 T 0.0 P -1.062 T 0.0 T 0.0 T Uncertain 3_194842877_A->G 3 194842877 194842877 A G snp 3967.77 1/1 99 150 1 149 0.99 intronic rs58370605 XXYLT1 AU NM_152531 exon2 c.86734-34300A>G 0.542931 0.8323 0.4175 0.7980 Uncertain 3_194842911_A->G 3 194842911 194842911 A G snp 2854.77 1/1 99 99 0 99 1.0 intronic rs12634646 XXYLT1 AU NM_152531 exon2 c.86734-34266A>G 0.388578 0.5744 0.2688 0.5357 0 D 0.0 P -0.939 T 0.001 T 0.001 T Uncertain 3_194896233_-->GA 3 194896233 194896233 - GA indel 1578.73 0/1 99 106 69 37 0.35 intronic rs201558663 XXYLT1 AU NM_152531 exon2 c.86867+18923insGA 0.123602 0.2411 Uncertain 3_194896237_GA->- 3 194896237 194896238 GA - indel 1625.73 0/1 99 108 72 36 0.33 intronic rs567765445 XXYLT1 AU NM_152531 exon2 c.86867+18927_86867+18928delGA 0.123602 0.2411 Uncertain 3_194896240_-->GTG 3 194896240 194896240 - GTG indel 2104.73 0/1 99 112 73 39 0.35 intronic rs200404095 XXYLT1 AU NM_152531 exon2 c.86867+18930insGTG 0.123602 0.2411 Uncertain 3_194896438_G->A 3 194896438 194896438 G A snp 2178.77 0/1 99 166 74 92 0.55 intronic rs149056601 XXYLT1 AU NM_152531 exon2 c.86867+19128G>A 0.00778754 0.0149 0.0019 0.0253 Uncertain 3_194928138_A->C 3 194928138 194928138 A C snp 2304.77 0/1 99 177 79 98 0.55 intronic rs12495970 XXYLT1 AU NM_152531 exon3 c.156994-19299A>C 0.301717 0.3889 Uncertain 3_194991022_G->C 3 194991022 194991022 G C snp 707.77 1/1 51 27 0 27 1.0 intronic rs62285259 XXYLT1 AU NM_152531 exon4 c.200840-261G>C 0.383986 0.6944 Uncertain 3_194991220_A->G 3 194991220 194991220 A G snp 327.03 0/1 12 12 1 11 0.92 intronic rs7640099 XXYLT1 AU NM_152531 exon4 c.200840-63A>G 0.897564 0.9593 Uncertain 3_194991221_A->C 3 194991221 194991221 A C snp 435.77 1/1 33 13 0 13 1.0 intronic rs7640100 XXYLT1 AU NM_152531 exon4 c.200840-62A>C 0.897564 0.9593 Uncertain 3_194999996_T->A 3 194999996 194999996 T A snp 1135.77 1/1 81 44 0 44 1.0 UTR3 rs7610022 ACAP2 AU 0.81889 0.9593 Uncertain 3_195022428_G->A 3 195022428 195022428 G A snp 3517.77 1/1 99 136 0 136 1.0 intronic rs41266997 ACAP2 AU NM_012287 exon9 c.22317+55G>A 0.220447 0.502 0.097240 Uncertain 3_195022534_G->T 3 195022534 195022534 G T snp 1212.77 1/1 87 43 0 43 1.0 intronic rs2275519 ACAP2 AU NM_012287 exon10 c.22638-160G>T 0.345048 0.6895 Uncertain 3_195022657_C->T 3 195022657 195022657 C T snp 77.77 0/1 99 7 4 3 0.43 intronic rs2275520 ACAP2 AU NM_012287 exon10 c.22638-37C>T 0.0559105 0.1508 0.002230 0.0241 0.1296 Uncertain 3_195029738_-->AAAGT 3 195029738 195029738 - AAAGT indel 668.74 1/1 27 10 0 10 1.0 intronic rs10636354 ACAP2 AU NM_012287 exon13 c.29510+172insAAAGT 0.857228 0.9583 Uncertain 3_195053916_C->T 3 195053916 195053916 C T snp 343.78 1/1 27 11 0 11 1.0 intronic rs62287109 ACAP2 AU NM_012287 exon16 c.53796+64C>T 0.410743 0.6895 Uncertain 3_195063453_G->A 3 195063453 195063453 G A snp 298.78 1/1 24 8 0 8 1.0 intronic rs9862710 ACAP2 AU NM_012287 exon18 c.63327+70G>A 0.35004 0.6895 Uncertain 3_195102787_T->C 3 195102787 195102787 T C snp 1233.77 1/1 90 44 0 44 1.0 intronic rs2275518 ACAP2 AU NM_012287 exon21 c.102695+36T>C 0.397963 0.6905 0.250154 0.3074 0.7090 Uncertain 3_195133474_G->A 3 195133474 195133474 G A snp 683.77 1/1 51 20 0 20 1.0 intronic rs57063250 ACAP2 AU NM_012287 exon22 c.112820+20598G>A 0.455871 0.8135 Uncertain 3_195133475_-->AAC 3 195133475 195133475 - AAC indel 1150.73 1/1 60 20 0 20 1.0 intronic rs10645683 ACAP2 AU NM_012287 exon22 c.112820+20599insAAC 0.659145 0.872 Uncertain 3_195245805_G->A 3 195245805 195245805 G A snp 3702.77 1/1 99 142 0 142 1.0 intronic rs17847362 PPP1R2 AU NM_001291504 exon2 c.2121-9G>A 0.728435 0.9504 0.591342 0.6729 0.9441 Uncertain 3_195295708_-->GGGGT 3 195295708 195295708 - GGGGT indel 3174.72 1/1 99 52 2 50 0.96 UTR3 rs142189206 APOD AU Uncertain 3_195300676_A->G 3 195300676 195300676 A G snp 1162.77 1/1 87 31 0 31 1.0 intronic rs1568566 APOD AU NM_001647 exon3 c.4950-44A>G 0.872404 0.9891 0.882362 0.8359 0.9965 Uncertain 3_195306055_A->G 3 195306055 195306055 A G snp 911.77 1/1 66 29 0 29 1.0 intronic rs4677691 APOD AU NM_001647 exon4 c.10439-154A>G 0.910144 0.9643 Uncertain 3_195345828_A->G 3 195345828 195345828 A G snp 5454.77 1/1 99 246 27 219 0.89 intergenic rs148520845 APOD AU 0.753794 0.9494 0.6221 0.9294 0.34 T 0.0 P -1.008 T Uncertain 3_195345829_G->A 3 195345829 195345829 G A snp 5315.77 1/1 99 247 28 219 0.89 intergenic rs147830733 APOD AU 0.754992 0.9494 0.6229 0.9296 0.49 T 0.0 P -1.020 T Uncertain 3_195345865_T->G 3 195345865 195345865 T G snp 789.77 0/1 99 250 180 70 0.28 intergenic rs202045507 APOD AU 2.486e-05 0 1 T 1.000 D -1.025 T Uncertain 3_195345953_C->T 3 195345953 195345953 C T snp 1879.77 0/1 99 240 98 142 0.59 intergenic rs2688538 APOD AU 0.6587 0.8497 Uncertain 3_195345966_G->A 3 195345966 195345966 G A snp 301.77 0/1 99 231 167 64 0.28 intergenic rs201711980 APOD AU 1.657e-05 0 1 T 1 N -0.986 T Uncertain 3_195346198_T->C 3 195346198 195346198 T C snp 117.03 1/1 12 6 0 6 1.0 intergenic rs2432525 APOD AU Uncertain 3_195346308_G->A 3 195346308 195346308 G A snp 185.77 0/1 99 126 96 30 0.24 intergenic rs201668441 APOD AU 0.0169 0.0536 0.82 T 0.000 P -0.972 T Uncertain 3_195346352_C->T 3 195346352 195346352 C T snp 487.77 0/1 99 187 128 59 0.32 intergenic rs201553387 APOD AU 0.4217 0.5161 Uncertain 3_195346477_C->T 3 195346477 195346477 C T snp 3091.77 1/1 99 199 50 149 0.75 intergenic rs7631117 APOD AU 0.4362 0.5664 0.02 T 1.000 N -0.978 T Uncertain 3_195346906_C->T 3 195346906 195346906 C T snp 6712.77 1/1 99 236 2 234 0.99 intergenic rs62286967 APOD AU 0.109026 0.1647 0.0775 0.1942 0.19 T 0.000 P -1.045 T Uncertain 3_195346914_G->A 3 195346914 195346914 G A snp 6625.77 1/1 99 239 2 237 0.99 intergenic rs62286968 APOD AU 0.0768 0.1939 Uncertain 3_195347127_G->A 3 195347127 195347127 G A snp 341.78 1/1 27 10 0 10 1.0 intergenic rs3988246 APOD AU 0.827077 0.9544 Uncertain 3_195395272_C->T 3 195395272 195395272 C T snp 97.77 0/1 99 33 26 7 0.21 ncRNA_intronic rs62287988 SDHAP2 AU Uncertain 3_195395328_T->C 3 195395328 195395328 T C snp 109.77 0/1 99 84 65 19 0.23 ncRNA_intronic rs62287989 SDHAP2 AU Uncertain 3_195395508_C->A 3 195395508 195395508 C A snp 1139.77 0/1 99 243 185 58 0.24 ncRNA_exonic rs748216473 SDHAP2 AU 1.713e-05 0 Uncertain 3_195395565_G->A 3 195395565 195395565 G A snp 278.77 0/1 99 200 170 30 0.15 ncRNA_intronic rs200857253 SDHAP2 AU Uncertain 3_195395631_A->T 3 195395631 195395631 A T snp 332.77 0/1 99 63 34 29 0.46 ncRNA_intronic rs201911835 SDHAP2 AU Uncertain 3_195398271_A->G 3 195398271 195398271 A G snp 384.77 0/1 99 59 36 23 0.39 ncRNA_intronic rs142433257 SDHAP2 AU Uncertain 3_195398308_G->A 3 195398308 195398308 G A snp 97.77 0/1 99 23 16 7 0.3 ncRNA_intronic SDHAP2 AU Uncertain 3_195399505_C->T 3 195399505 195399505 C T snp 180.77 0/1 99 249 201 48 0.19 ncRNA_exonic rs2280577 SDHAP2 AU 0.332069 0.4375 0.3424 0.4362 Uncertain 3_195399599_T->C 3 195399599 195399599 T C snp 749.77 0/1 99 213 147 66 0.31 ncRNA_intronic rs2461859 SDHAP2 AU 0.1877 0.1659 Uncertain 3_195399620_C->G 3 195399620 195399620 C G snp 808.77 0/1 99 183 119 64 0.35 ncRNA_intronic rs9840981 SDHAP2 AU Uncertain 3_195399678_G->T 3 195399678 195399678 G T snp 581.77 0/1 99 61 38 23 0.38 ncRNA_intronic rs9874761 SDHAP2 AU Uncertain 3_195412616_T->A 3 195412616 195412616 T A snp 46.77 0/1 75 99 82 17 0.17 ncRNA_intronic rs10454782 SDHAP2 AU Uncertain 3_195412621_C->T 3 195412621 195412621 C T snp 60.77 0/1 89 106 89 17 0.16 ncRNA_intronic rs113400760 SDHAP2 AU Uncertain 3_195447805_T->C 3 195447805 195447805 T C snp 73.77 0/1 99 14 10 4 0.29 UTR5 MUC20 AU Uncertain 3_195447886_G->C 3 195447886 195447886 G C snp 514.77 0/1 99 34 8 26 0.76 exonic rs7627924 MUC20 AU nonsynonymous SNV NM_001282506 exon1 c.G8C p.C3S 0.4857 0.5002 0.88 T 1.000 N -0.940 T 0.0 T 0.0 T Pathogenic 3_195451880_A->G 3 195451880 195451880 A G snp 1595.77 0/1 99 250 163 87 0.35 exonic rs142096782 MUC20 AU nonsynonymous SNV NM_001282506 exon2 c.A406G p.R136G 0.755391 0.8472 0.7885 0.8157 0.36 T 0.0 P -1.032 T 0.001 T 0.0 T Pathogenic 3_195451881_G->A 3 195451881 195451881 G A snp 1526.77 0/1 99 250 161 89 0.36 exonic rs146888306 MUC20 AU nonsynonymous SNV NM_001282506 exon2 c.G407A p.R136K 0.780551 0.8512 0.7958 0.8206 0.45 T 0.0 P -0.988 T 0.0 T 0.0 T Pathogenic 3_195451917_G->T 3 195451917 195451917 G T snp 237.77 0/1 99 250 204 46 0.18 exonic rs369019587 MUC20 AU nonsynonymous SNV NM_001282506 exon2 c.G443T p.S148I 8.293e-06 0 0.03 T 0.550 N -0.874 T 1.0 D 0.992 D Pathogenic 3_195452005_C->T 3 195452005 195452005 C T snp 101.77 0/1 99 238 202 36 0.15 exonic rs145612981 MUC20 AU synonymous SNV NM_001282506 exon2 c.C531T p.S177S 0.3886 0.1537 Uncertain 3_195452535_T->C 3 195452535 195452535 T C snp 191.8 1/1 21 14 3 11 0.79 exonic MUC20 AU nonsynonymous SNV NM_001282506 exon2 c.T1061C p.L354P 0.83 T 0.0 P -0.980 T Pathogenic 3_195452575_C->T 3 195452575 195452575 C T snp 174.77 0/1 99 65 52 13 0.2 exonic rs371281295 MUC20 AU synonymous SNV NM_001282506 exon2 c.C1101T p.S367S Uncertain 3_195452619_C->T 3 195452619 195452619 C T snp 583.77 0/1 99 158 109 49 0.31 exonic rs200883738 MUC20 AU nonsynonymous SNV NM_001282506 exon2 c.C1145T p.A382V 0.1461 0.3845 0.56 T 1 N -0.980 T 0.504 P 0.079 P Pathogenic 3_195452645_G->A 3 195452645 195452645 G A snp 735.77 0/1 99 218 143 75 0.34 exonic rs200616967 MUC20 AU nonsynonymous SNV NM_001282506 exon2 c.G1171A p.G391S 0.1105 0.3619 0.84 T 1 N -0.956 T 0.009 T 0.003 T ID=COSM479881;OCCURENCE=1(kidney),2(breast) Pathogenic 3_195452689_C->T 3 195452689 195452689 C T snp 514.77 0/1 99 250 178 72 0.29 exonic rs141077164 MUC20 AU synonymous SNV NM_001282506 exon2 c.C1215T p.D405D 0.4385 0.5102 Uncertain 3_195452951_G->C 3 195452951 195452951 G C snp 2005.77 0/1 99 250 171 79 0.32 exonic rs2688542 MUC20 AU nonsynonymous SNV NM_001282506 exon2 c.G1477C p.D493H 0.6086 0.7887 0.2 T 0.0 P -0.952 T 0.969 D 0.642 D Pathogenic 3_195452987_G->A 3 195452987 195452987 G A snp 1979.77 0/1 99 250 170 80 0.32 exonic rs9866681 MUC20 AU nonsynonymous SNV NM_001282506 exon2 c.G1513A p.A505T 0.2082 0.4220 1 T 1 N -0.998 T 0.0 T 0.0 T Pathogenic 3_195452991_C->T 3 195452991 195452991 C T snp 2112.77 0/1 99 250 165 85 0.34 exonic rs3828411 MUC20 AU nonsynonymous SNV NM_001282506 exon2 c.C1517T p.T506I 0.2049 0.4211 0.49 T 1 N -1.035 T 0.524 P 0.201 P Pathogenic 3_195453014_G->A 3 195453014 195453014 G A snp 2224.77 0/1 99 250 167 83 0.33 exonic rs3828410 MUC20 AU nonsynonymous SNV NM_001282506 exon2 c.G1540A p.G514R 0.1703 0.4195 0.74 T 0.0 P -0.926 T 0.0 T 0.0 T Pathogenic 3_195453064_T->G 3 195453064 195453064 T G snp 2148.77 0/1 99 250 167 83 0.33 exonic rs2550233 MUC20 AU synonymous SNV NM_001282506 exon2 c.T1590G p.L530L 0.883678 0.8209 0.8212 Uncertain 3_195453243_C->T 3 195453243 195453243 C T snp 1611.77 0/1 99 250 178 72 0.29 exonic rs3828408 MUC20 AU nonsynonymous SNV NM_001282506 exon2 c.C1769T p.P590L 0.3837 0.5044 0.26 T 0.0 P -0.922 T 0.093 T 0.016 T Pathogenic 3_195453257_G->A 3 195453257 195453257 G A snp 1646.77 0/1 99 249 180 69 0.28 exonic rs3828406 MUC20 AU nonsynonymous SNV NM_001282506 exon2 c.G1783A p.A595T 0.333360 0.3709 0.4593 1 T 0.0 P -0.931 T 0.0 T 0.0 T Pathogenic 3_195453406_G->C 3 195453406 195453406 G C snp 1955.77 0/1 99 230 142 88 0.38 exonic rs3210209 MUC20 AU synonymous SNV NM_001282506 exon2 c.G1932C p.T644T 0.1597 0.3501 1.000 N -1.022 T Likely benign 3_195453412_C->T 3 195453412 195453412 C T snp 1884.77 0/1 99 226 140 86 0.38 exonic rs1063306 MUC20 AU synonymous SNV NM_001282506 exon2 c.C1938T p.A646A 0.1567 0.3373 1 N -1.001 T Likely benign 3_195453472_G->A 3 195453472 195453472 G A snp 913.77 0/1 99 118 76 42 0.36 intronic rs4992495 MUC20 AU NM_001282506 exon2 c.5565+29G>A 0.1010 0.3996 Uncertain 3_195453574_C->T 3 195453574 195453574 C T snp 32.77 0/1 61 7 5 2 0.29 intronic rs9837436 MUC20 AU NM_001282506 exon2 c.5565+131C>T Uncertain 3_195456375_C->T 3 195456375 195456375 C T snp 56.74 1/1 6 2 0 2 1.0 intronic rs3762740 MUC20 AU NM_001282506 exon3 c.8640-143C>T Uncertain 3_195456561_C->G 3 195456561 195456561 C G snp 714.77 0/1 99 90 54 36 0.4 exonic rs3762739 MUC20 AU nonsynonymous SNV NM_001282506 exon3 c.C2012G p.S671C 0.3058 0.4699 0.02 T 0.693 P -0.944 T 1.0 D 0.992 D Pathogenic 3_195476085_A->G 3 195476085 195476085 A G snp 142.77 0/1 99 35 27 8 0.23 intronic rs2688497 MUC4 AU NM_004532 exon2 c.1889+150A>G 0.849042 0.8363 Uncertain 3_195484244_G->A 3 195484244 195484244 G A snp 942.77 0/1 99 66 30 36 0.55 intronic rs2550270 MUC4 AU NM_004532 exon8 c.10153+45G>A 0.659345 0.8095 0.701599 0.7522 0.7982 Uncertain 3_195487737_A->G 3 195487737 195487737 A G snp 422.77 0/1 99 34 18 16 0.47 intronic rs2246771 MUC4 AU NM_004532 exon10 c.13708-17A>G 0.691294 0.7798 0.717054 0.6921 0.7517 Uncertain 3_195489009_C->A 3 195489009 195489009 C A snp 844.77 0/1 99 101 59 42 0.42 exonic rs2246901 MUC4 AU nonsynonymous SNV NM_004532 exon13 c.G1753T p.A585S 0.63099 0.8125 0.641604 0.6823 0.8004 0.1 T 0.0 P -0.978 T 0.999 D 0.996 D ID=CM066583;DIS=Ulcerative colitis, association with;TAG=DP;PUB=17058067 DP Pathogenic 3_195489067_C->G 3 195489067 195489067 C G snp 1259.77 0/1 99 115 57 58 0.5 exonic rs2246980 MUC4 AU synonymous SNV NM_004532 exon13 c.G1695C p.S565S 0.424321 0.7599 0.373035 0.4927 0.7340 Uncertain 3_195489669_C->T 3 195489669 195489669 C T snp 1315.77 0/1 99 117 60 57 0.49 intronic rs2550263 MUC4 AU NM_004532 exon13 c.15679-56C>T 0.590256 0.8115 Uncertain 3_195490284_T->C 3 195490284 195490284 T C snp 70.77 0/1 99 11 7 4 0.36 intronic rs2550261 MUC4 AU NM_004532 exon14 c.16257-19T>C 0.660942 0.8115 0.701528 0.6936 0.8213 Uncertain 3_195490839_TCCAGAT->- 3 195490839 195490845 TCCAGAT - indel 794.74 1/1 27 9 0 9 1.0 intronic rs140802196 MUC4 AU NM_004532 exon15 c.16869-76_16869-70delTCCAGAT 0.108027 0.2113 Uncertain 3_195490846_G->A 3 195490846 195490846 G A snp 305.78 1/1 24 9 0 9 1.0 intronic rs375878616 MUC4 AU NM_004532 exon15 c.16869-69G>A Uncertain 3_195491180_C->T 3 195491180 195491180 C T snp 143.77 0/1 63 8 3 5 0.63 intronic rs2880893 MUC4 AU NM_004532 exon15 c.16989+145C>T Uncertain 3_195492027_T->C 3 195492027 195492027 T C snp 2701.77 1/1 99 96 0 96 1.0 intronic rs11926236 MUC4 AU NM_004532 exon16 c.17947+34T>C 0.989417 0.999 0.979505 0.9789 0.9999 Uncertain 3_195495916_G->C 3 195495916 195495916 G C snp 1209.77 0/1 99 98 46 52 0.53 exonic rs2550240 MUC4 AU nonsynonymous SNV NM_004532 exon6 c.C798G p.N266K 0.428714 0.7659 0.358834 0.4455 0.7379 0.62 T 0.0 P -0.906 T 0.948 T 0.829 D Pathogenic 3_195496129_C->T 3 195496129 195496129 C T snp 40.77 0/1 69 7 5 2 0.29 intronic rs2688492 MUC4 AU NM_004532 exon19 c.21977+106C>T 0.634784 0.8135 Uncertain 3_195497143_C->T 3 195497143 195497143 C T snp 738.77 0/1 99 73 40 33 0.45 exonic rs2293232 MUC4 AU nonsynonymous SNV NM_004532 exon5 c.G634A p.A212T 0.213259 0.1806 0.158696 0.1897 0.1984 0.84 T 1.000 P -0.981 T 0.01 T 0.004 T Pathogenic 3_195497174_C->G 3 195497174 195497174 C G snp 1321.77 0/1 99 107 45 62 0.58 exonic rs2259102 MUC4 AU nonsynonymous SNV NM_004532 exon5 c.G603C p.M201I 0.828275 0.8175 0.871444 0.7996 0.8066 0.24 T 0.0 P -1.060 T 0.003 T 0.0 T Pathogenic 3_195497743_T->C 3 195497743 195497743 T C snp 1841.77 0/1 99 190 102 88 0.46 intronic rs2260685 MUC4 AU NM_004532 exon20 c.23196+501T>C 0.441893 0.7619 0.4514 0.83 Uncertain 3_195497809_T->C 3 195497809 195497809 T C snp 919.77 0/1 99 88 51 37 0.42 intronic rs2259153 MUC4 AU NM_004532 exon20 c.23196+567T>C 0.700879 0.7679 Uncertain 3_195501149_C->T 3 195501149 195501149 C T snp 392.77 0/1 99 50 31 19 0.38 exonic rs2259292 MUC4 AU nonsynonymous SNV NM_004532 exon3 c.G263A p.G88D 0.586262 0.7609 0.582270 0.5856 0.7323 0.6 T 0.0 P -0.934 T 0.478 P 0.125 P Pathogenic 3_195501258_T->C 3 195501258 195501258 T C snp 172.77 0/1 99 26 18 8 0.31 intronic rs2259331 MUC4 AU NM_004532 exon22 c.27130+82T>C 0.699081 0.7679 Uncertain 3_195505417_G->A 3 195505417 195505417 G A snp 626.77 0/1 99 49 20 29 0.59 intronic rs151339378 MUC4 AU NM_004532 exon23 c.31280+91G>A 0.504393 0.7569 Uncertain 3_195505664_G->A 3 195505664 195505664 G A snp 483.77 0/1 99 73 50 23 0.32 intronic rs151339088 MUC4 AU NM_018406 exon24 c.31614+4G>A 0.789537 0.8115 0.874298 0.8052 0.7979 1 T 0.0 P -0.982 T 0.022 T 0.009 T Uncertain 3_195505788_G->C 3 195505788 195505788 G C snp 286.77 0/1 99 43 28 15 0.35 intronic rs2550253 MUC4 AU NM_018406 exon24 c.31614+128G>C 0.143371 0.2044 0.3368 0.4677 0.0 P -1.059 T 0.005 T 0.001 T Uncertain 3_195505849_G->A 3 195505849 195505849 G A snp 31.77 0/1 60 9 7 2 0.22 intronic rs759557940 MUC4 AU NM_018406 exon24 c.31614+189G>A 0.0224 0.0067 1 N -1.032 T 0.058 T 0.021 T Uncertain 3_195511959_G->A 3 195511959 195511959 G A snp 173.77 0/1 99 17 10 7 0.41 intronic rs369770584 MUC4 AU NM_018406 exon24 c.31614+6299G>A 0.2790 0.4231 Uncertain 3_195511993_A->G 3 195511993 195511993 A G snp 275.77 0/1 99 38 23 15 0.39 intronic rs3107749 MUC4 AU NM_018406 exon24 c.31614+6333A>G 0.415535 0.6865 0.0158 0.1071 1.000 N -1.046 T 0.613 T 0.058 P Uncertain 3_195512004_T->G 3 195512004 195512004 T G snp 1032.77 1/1 78 41 0 41 1.0 intronic rs148317288 MUC4 AU NM_018406 exon24 c.31614+6344T>G 0.5974 0.5977 0.000 P -1.051 T 0.012 T 0.004 T Uncertain 3_195512042_T->C 3 195512042 195512042 T C snp 1318.77 1/1 99 56 0 56 1.0 intronic rs6805660 MUC4 AU NM_018406 exon24 c.44322-6326T>C 0.9121 0.8827 0.0 P -1.005 T 0.004 T 0.0 T Uncertain 3_195512103_G->A 3 195512103 195512103 G A snp 126.77 0/1 99 50 41 9 0.18 intronic rs437805 MUC4 AU NM_018406 exon24 c.44322-6265G>A 0.1843 0.1609 Uncertain 3_195512107_T->A 3 195512107 195512107 T A snp 1390.77 1/1 99 48 0 48 1.0 intronic rs374495657 MUC4 AU NM_018406 exon24 c.44322-6261T>A 0.9785 0.9874 0.000 P -1.022 T 0.204 T 0.015 T Uncertain 3_195512186_T->C 3 195512186 195512186 T C snp 391.77 1/1 30 11 0 11 1.0 intronic rs202060675 MUC4 AU NM_018406 exon24 c.44322-6182T>C 1 1 0.9947 0.9958 0.0 P -1.026 T 0.234 T 0.047 T Uncertain 3_195515387_T->C 3 195515387 195515387 T C snp 105.77 0/1 99 8 4 4 0.5 intronic rs13065584 MUC4 AU NM_018406 exon24 c.44322-2981T>C 0.283147 0.3472 0.0094 0.0051 1 N -1.012 T 0.103 T 0.008 T Uncertain 3_195515401_A->T 3 195515401 195515401 A T snp 102.77 0/1 99 10 6 4 0.4 intronic rs13060431 MUC4 AU NM_018406 exon24 c.44322-2967A>T 0.0816693 0.1121 0.0001 0.0015 1 N -1.040 T 0.003 T 0.002 T Uncertain 3_195515411_G->T 3 195515411 195515411 G T snp 108.77 0/1 99 11 7 4 0.36 intronic rs55803325 MUC4 AU NM_018406 exon24 c.44322-2957G>T 0.161342 0.2321 9.185e-05 0 1 N -1.026 T 0.001 T 0.0 T Uncertain 3_195515414_T->C 3 195515414 195515414 T C snp 61.77 0/1 90 12 8 4 0.33 intronic rs200193644 MUC4 AU NM_018406 exon24 c.44322-2954T>C 0.161342 0.2321 0.0002 0 1 N -1.056 T 0.784 T 0.092 P Uncertain 3_195515594_C->G 3 195515594 195515594 C G snp 1220.77 0/1 99 109 59 50 0.46 intronic rs13095016 MUC4 AU NM_018406 exon24 c.44322-2774C>G 0.720847 0.8274 0.771293 0.7760 0.8043 0.62 T 0.0 P -0.856 T 0.967 D 0.492 D Uncertain 3_195515617_G->C 3 195515617 195515617 G C snp 1240.77 0/1 99 105 52 53 0.5 intronic rs2641776 MUC4 AU NM_018406 exon24 c.44322-2751G>C 0.922125 0.8254 0.958398 0.9327 0.7994 0.93 T 0.0 P -0.999 T 0.006 T 0.004 T Uncertain 3_195516630_G->T 3 195516630 195516630 G T snp 2455.77 0/1 99 247 138 109 0.44 intronic rs3103954 MUC4 AU NM_018406 exon24 c.44322-1738G>T 0.82528 0.8155 0.872991 0.7973 0.7970 Uncertain 3_195516878_T->C 3 195516878 195516878 T C snp 1478.77 0/1 99 112 57 55 0.49 intronic rs2177336 MUC4 AU NM_018406 exon24 c.44322-1490T>C 0.772165 0.8155 0.823467 0.7806 0.7975 1 T 0.0 P -0.963 T 0.053 T 0.009 T Uncertain 3_195517258_G->A 3 195517258 195517258 G A snp 1870.77 0/1 99 154 82 72 0.47 intronic rs1106502 MUC4 AU NM_018406 exon24 c.44322-1110G>A 0.772364 0.8165 0.824634 0.7807 0.7985 0.41 T 0.0 P -0.999 T 0.068 T 0.031 T Uncertain 3_195517321_G->A 3 195517321 195517321 G A snp 2298.77 0/1 99 189 91 98 0.52 intronic rs1104760 MUC4 AU NM_018406 exon24 c.44322-1047G>A 0.772165 0.8155 0.824369 0.7805 0.7981 0.34 T 0.0 P -1.040 T 0.114 T 0.144 T Uncertain 3_195517553_A->C 3 195517553 195517553 A C snp 2612.77 0/1 99 212 108 104 0.49 intronic rs882605 MUC4 AU NM_018406 exon24 c.44322-815A>C 0.773762 0.8155 0.826119 0.7809 0.7980 0.65 T 0.0 P -1.016 T 0.003 T 0.0 T Uncertain 3_195518112_-->GTCTCCTGCGTAACA 3 195518112 195518112 - GTCTCCTGCGTAACA indel 13916.7 0/1 99 217 123 94 0.43 intronic rs142781032 MUC4 AU NM_018406 exon24 c.44322-256insGTCTCCTGCGTAACA 0.728634 0.8095 0.750512 0.7527 0.7792 ID=COSM1421936,COSM1617396;OCCURENCE=1(liver),1(large_intestine) Uncertain 3_195518330_C->G 3 195518330 195518330 C G snp 694.77 0/1 99 48 21 27 0.56 intronic rs3107764 MUC4 AU NM_018406 exon24 c.44322-38C>G 0.504593 0.756 0.514132 0.5769 0.7273 0.75 T 0.0 P -1.049 T 0.006 T 0.001 T Uncertain 3_195590875_A->G 3 195590875 195590875 A G snp 261.8 1/1 21 8 0 8 1.0 UTR3 rs6773526 TNK2 AU 0.841653 0.7907 Uncertain 3_195595632_A->G 3 195595632 195595632 A G snp 1275.77 1/1 93 47 0 47 1.0 intronic rs13087251 TNK2 AU NM_005781 exon4 c.4529+52A>G 0.829473 0.9395 0.836142 0.7832 0.9448 Uncertain 3_195599085_T->C 3 195599085 195599085 T C snp 723.77 0/1 99 57 29 28 0.49 intronic rs2241413 TNK2 AU NM_005781 exon6 c.8095-61T>C 0.440096 0.4196 Uncertain 3_195603634_G->A 3 195603634 195603634 G A snp 57.74 1/1 6 3 0 3 1.0 intronic rs11185487 TNK2 AU NM_005781 exon7 c.14072-1489G>A 0.517173 0.6518 0.5796 0.675 Uncertain 3_195621982_C->T 3 195621982 195621982 C T snp 113.77 0/1 99 8 3 5 0.63 intronic rs12491213 TNK2 AU NM_001010938 exon15 c.31065-134C>T 0.184904 0.4117 Uncertain 3_195622780_G->T 3 195622780 195622780 G T snp 44.74 1/1 6 2 0 2 1.0 upstream rs9833567 TNK2 AU 0.242812 0.3244 Uncertain 3_195686832_G->A 3 195686832 195686832 G A snp 58.77 0/1 87 45 32 13 0.29 ncRNA_exonic rs201549703 SDHAP1 AU Uncertain 3_195686868_G->A 3 195686868 195686868 G A snp 60.77 0/1 89 43 33 10 0.23 ncRNA_exonic rs147286278 SDHAP1 AU Uncertain 3_195690397_A->G 3 195690397 195690397 A G snp 829.77 1/1 66 26 0 26 1.0 ncRNA_intronic rs148308206 SDHAP1 AU 0.820487 0.999 Uncertain 3_195701278_C->T 3 195701278 195701278 C T snp 629.77 0/1 99 172 132 40 0.23 ncRNA_exonic rs200131790 SDHAP1 AU 0.1317 0.1670 Uncertain 3_195701285_G->T 3 195701285 195701285 G T snp 611.77 0/1 99 180 138 42 0.23 ncRNA_exonic rs201085786 SDHAP1 AU 0.1144 0.1504 Uncertain 3_195701304_C->T 3 195701304 195701304 C T snp 761.77 0/1 99 203 154 49 0.24 ncRNA_exonic rs200047587 SDHAP1 AU 0.0986 0.1395 ID=COSN167127;OCCURENCE=3(large_intestine) Uncertain 3_195701331_G->A 3 195701331 195701331 G A snp 780.77 0/1 99 218 169 49 0.22 ncRNA_exonic rs78212497 SDHAP1 AU 0.2615 0.2944 Uncertain 3_195701388_G->A 3 195701388 195701388 G A snp 1349.77 0/1 99 150 91 59 0.39 ncRNA_exonic rs57251344 SDHAP1 AU 0.254992 0.4395 0.2382 0.4447 Uncertain 3_195701389_C->A 3 195701389 195701389 C A snp 1337.77 0/1 99 148 89 59 0.4 ncRNA_exonic rs60183692 SDHAP1 AU 0.254992 0.4395 0.2384 0.4450 Uncertain 3_195701445_AAGG->- 3 195701445 195701448 AAGG - indel 1064.73 0/1 99 58 31 27 0.47 ncRNA_intronic rs138996350 SDHAP1 AU 0.122404 0.1181 0.0525 0.1056 Uncertain 3_195701472_A->G 3 195701472 195701472 A G snp 171.77 0/1 99 31 23 8 0.26 ncRNA_intronic rs758998208 SDHAP1 AU 0.3756 0.4105 Uncertain 3_195701484_CCA->- 3 195701484 195701486 CCA - indel 273.73 0/1 99 22 15 7 0.32 ncRNA_intronic rs377526928 SDHAP1 AU 0.3557 0.3791 Uncertain 3_195702421_C->G 3 195702421 195702421 C G snp 351.77 0/1 99 22 11 11 0.5 ncRNA_intronic rs12637847 SDHAP1 AU Uncertain 3_195702731_G->C 3 195702731 195702731 G C snp 499.77 0/1 99 228 172 56 0.25 ncRNA_exonic rs200439531 SDHAP1 AU 0.0977 0.3473 Uncertain 3_195702808_T->C 3 195702808 195702808 T C snp 723.77 0/1 99 167 120 47 0.28 ncRNA_intronic rs201230648 SDHAP1 AU 0.2859 0.4568 Uncertain 3_195703854_T->C 3 195703854 195703854 T C snp 245.77 0/1 99 41 22 19 0.46 ncRNA_intronic rs79810558 SDHAP1 AU 0.270367 0.6905 Uncertain 3_195706589_T->C 3 195706589 195706589 T C snp 1593.77 1/1 99 58 0 58 1.0 ncRNA_intronic rs146645407 SDHAP1 AU 0.961262 1 0.8815 1 Uncertain 3_195710815_C->T 3 195710815 195710815 C T snp 37.77 0/1 66 4 2 2 0.5 ncRNA_intronic rs199721275 SDHAP1 AU Uncertain 3_195710975_G->A 3 195710975 195710975 G A snp 559.77 0/1 99 128 94 34 0.27 ncRNA_intronic SDHAP1 AU Uncertain 3_195710989_G->A 3 195710989 195710989 G A snp 598.77 0/1 99 133 95 38 0.29 ncRNA_exonic rs2620604 SDHAP1 AU 0.317891 0.4315 Uncertain 3_195710993_A->G 3 195710993 195710993 A G snp 596.77 0/1 99 133 95 38 0.29 ncRNA_exonic rs4927692 SDHAP1 AU 0.317891 0.4315 Uncertain 3_195711016_G->A 3 195711016 195711016 G A snp 889.77 0/1 99 134 90 44 0.33 ncRNA_exonic rs79282413 SDHAP1 AU Uncertain 3_195754164_A->G 3 195754164 195754164 A G snp 352.77 0/1 99 26 15 11 0.42 intergenic rs6782834 SDHAP1 AU 0.517572 0.7044 0.3705 0.6582 Uncertain 3_195789915_A->G 3 195789915 195789915 A G snp 967.77 1/1 72 30 0 30 1.0 intronic rs926149 TFRC AR NM_003234 exon8 c.10998+105A>G 0.221246 0.6806 Uncertain 3_195798258_T->C 3 195798258 195798258 T C snp 7868.77 1/1 99 250 0 250 1.0 intronic rs480760 TFRC AR NM_003234 exon14 c.19454-8T>C 0.894169 1 0.885668 0.9497 1 Uncertain 3_195801025_T->A 3 195801025 195801025 T A snp 3595.77 1/1 99 130 0 130 1.0 intronic rs3736651 TFRC AR NM_003234 exon16 c.22184+29T>A 0.223243 0.6806 0.052284 0.1275 0.6658 Uncertain 3_195925103_C->T 3 195925103 195925103 C T snp 99.28 1/1 9 3 0 3 1.0 intronic rs2280530 ZDHHC19 AU 0.661941 0.4931 Uncertain 3_195925177_C->T 3 195925177 195925177 C T snp 439.77 0/1 99 29 14 15 0.52 exonic rs74579410 ZDHHC19 AU nonsynonymous SNV NM_001039617 exon7 c.G919A p.G307R 0.0223642 0.0288 0.000807 0.0121 0.0387 0.1 T 1 N -1.036 T 0.0 T 0.0 T Pathogenic 3_195925183_T->A 3 195925183 195925183 T A snp 490.77 0/1 99 36 18 18 0.5 exonic rs117210533 ZDHHC19 AU nonsynonymous SNV NM_001039617 exon7 c.A913T p.T305S 0.0223642 0.0288 0.000809 0.0121 0.0386 1 T 1 N -1.090 T 0.0 T 0.0 T Pathogenic 3_195925355_C->T 3 195925355 195925355 C T snp 2039.77 0/1 99 161 74 87 0.54 intronic rs1106479 ZDHHC19 AU NM_001039617 exon2 c.157+33C>T 0.265775 0.5347 0.131922 0.2376 0.5638 Uncertain 3_195926202_C->T 3 195926202 195926202 C T snp 219.84 1/1 18 7 0 7 1.0 intronic rs79868347 ZDHHC19 AU NM_001039617 exon3 c.580+457C>T 0.0491214 0.0635 Uncertain 3_195926234_T->C 3 195926234 195926234 T C snp 641.77 1/1 48 17 0 17 1.0 intronic rs939892 ZDHHC19 AU NM_001039617 exon3 c.580+489T>C 0.924521 0.998 Uncertain 3_195926387_G->A 3 195926387 195926387 G A snp 3728.77 1/1 99 133 0 133 1.0 intronic rs76934383 ZDHHC19 AU NM_001039617 exon3 c.580+642G>A 0.0323482 0.0635 Uncertain 3_195926552_C->T 3 195926552 195926552 C T snp 2372.77 1/1 99 80 0 80 1.0 intronic rs7630971 ZDHHC19 AU NM_001039617 exon3 c.580+807C>T 0.313698 0.0833 Uncertain 3_195935207_C->G 3 195935207 195935207 C G snp 32.77 0/1 61 7 5 2 0.29 intronic rs12497404 ZDHHC19 AU NM_001039617 exon5 c.10093-51C>G 0.546526 0.4187 0.541550 Uncertain 3_195936446_C->T 3 195936446 195936446 C T snp 325.77 0/1 99 25 13 12 0.48 intronic rs4916502 ZDHHC19 AU NM_001039617 exon6 c.11221+60C>T 0.569089 0.4187 Uncertain 3_195937316_A->G 3 195937316 195937316 A G snp 54.74 1/1 6 2 0 2 1.0 intronic rs555882585 ZDHHC19 AU NM_001039617 exon7 c.12321-170A>G 0.0351438 0.0556 Uncertain 3_195937326_G->A 3 195937326 195937326 G A snp 180.9 1/1 15 5 0 5 1.0 intronic rs6795617 ZDHHC19 AU NM_001039617 exon7 c.12321-160G>A 0.773762 0.8185 Uncertain 3_195937629_G->A 3 195937629 195937629 G A snp 431.77 0/1 99 52 33 19 0.37 intronic rs115997786 ZDHHC19 AU NM_001039617 exon7 c.12443+21G>A 0.0850639 0.0565 0.116736 0.1115 0.0547 Uncertain 3_195937678_G->A 3 195937678 195937678 G A snp 301.77 0/1 99 17 8 9 0.53 intronic rs12718059 ZDHHC19 AU NM_001039617 exon7 c.12443+70G>A 0.560503 0.4335 Uncertain 3_195937977_A->G 3 195937977 195937977 A G snp 830.77 0/1 99 64 30 34 0.53 intronic rs13079891 ZDHHC19 AU NM_001039617 exon8 c.12875-63A>G 0.288339 0.4395 Uncertain 3_195938177_A->G 3 195938177 195938177 A G snp 860.77 0/1 99 45 11 34 0.76 exonic rs1522394 ZDHHC19 AU synonymous SNV NM_001039617 exon1 c.T10C p.L4L 0.269569 0.5248 0.187193 0.2815 0.5430 Uncertain 3_195941216_C->G 3 195941216 195941216 C G snp 3029.77 1/1 99 104 0 104 1.0 intergenic rs7642243 ZDHHC19 AU 0.695088 0.9097 0.6524 0.8873 0 D 0.0 P -1.027 T Uncertain 3_195943481_C->T 3 195943481 195943481 C T snp 530.77 0/1 99 40 16 24 0.6 UTR5 rs56030157 SLC51A AU 0.211262 0.4246 0.2407 0.4010 Uncertain 3_195944531_G->A 3 195944531 195944531 G A snp 77.77 0/1 52 6 3 3 0.5 intronic rs13064065 SLC51A AU NM_152672 exon2 c.1129-181G>A 0.3127 0.4504 Uncertain 3_195953733_G->A 3 195953733 195953733 G A snp 56.74 1/1 6 2 0 2 1.0 intronic rs149130487 SLC51A AU NM_152672 exon3 c.10252-102G>A 0.0081869 0.0397 Uncertain 3_195953775_C->T 3 195953775 195953775 C T snp 261.77 0/1 99 19 9 10 0.53 intronic rs68119320 SLC51A AU NM_152672 exon3 c.10252-60C>T 0.462859 0.8552 Uncertain 3_195954069_-->CGTCACTTC 3 195954069 195954069 - CGTCACTTC indel 5110.73 0/1 99 108 41 67 0.62 intronic rs147316733 SLC51A AU NM_152672 exon3 c.10407+79insCGTCACTTC 0.3864 0.8430 Uncertain 3_195955178_C->T 3 195955178 195955178 C T snp 267.77 0/1 99 17 8 9 0.53 intronic rs72611184 SLC51A AU NM_152672 exon5 c.11561+34C>T 0.312101 0.7312 0.175185 0.2965 0.7686 Uncertain 3_195955209_T->C 3 195955209 195955209 T C snp 108.77 0/1 99 10 5 5 0.5 intronic rs72611185 SLC51A AU NM_152672 exon5 c.11561+65T>C 0.392372 0.7312 Uncertain 3_195955762_G->A 3 195955762 195955762 G A snp 1434.77 0/1 99 128 64 64 0.5 exonic rs939885 SLC51A AU nonsynonymous SNV NM_152672 exon6 c.G604A p.V202I 0.456869 0.7371 0.399585 0.4772 0.7716 0.41 T 0.218 P -0.983 T 0.0 T 0.001 T Pathogenic 3_195956675_C->G 3 195956675 195956675 C G snp 43.77 0/1 72 6 3 3 0.5 intronic rs60276076 SLC51A AU NM_152672 exon7 c.13202-110C>G 0.393371 0.7312 Uncertain 3_195956827_T->C 3 195956827 195956827 T C snp 647.77 0/1 99 69 39 30 0.43 exonic rs17852687 SLC51A AU synonymous SNV NM_152672 exon7 c.T675C p.L225L 0.497604 0.7897 0.410964 0.4801 0.8194 Uncertain 3_195956970_C->T 3 195956970 195956970 C T snp 623.77 0/1 99 51 24 27 0.53 intronic rs67261052 SLC51A AU NM_152672 exon7 c.13349+38C>T 0.392572 0.7321 0.286714 0.3615 0.7628 Uncertain 3_195959837_G->A 3 195959837 195959837 G A snp 80.77 0/1 99 6 3 3 0.5 intronic rs61608982 SLC51A AU NM_152672 exon9 c.16350-96G>A 0.403355 0.7262 Uncertain 3_195959859_C->T 3 195959859 195959859 C T snp 253.77 0/1 99 13 5 8 0.62 intronic rs56867360 SLC51A AU NM_152672 exon9 c.16350-74C>T 0.384784 0.7262 Uncertain 3_195959924_T->C 3 195959924 195959924 T C snp 513.77 0/1 99 51 31 20 0.39 intronic rs1476331 SLC51A AU NM_152672 exon9 c.16350-9T>C 0.573882 0.8681 0.460864 0.5070 0.8969 Uncertain 3_195960225_A->G 3 195960225 195960225 A G snp 459.77 0/1 99 27 11 16 0.59 UTR3 rs9343 SLC51A AU 0.586062 0.8681 Uncertain 3_195968281_A->G 3 195968281 195968281 A G snp 154.77 0/1 99 8 3 5 0.63 intronic rs57987393 PCYT1A AR NM_005017 exon3 c.3260-537A>G 0.365216 0.7411 Uncertain 3_195968643_G->A 3 195968643 195968643 G A snp 1305.77 0/1 99 69 28 41 0.59 intronic rs1045075 PCYT1A AR NM_005017 exon3 c.3260-175G>A 0.395966 0.6935 Uncertain 3_195974246_C->T 3 195974246 195974246 C T snp 316.77 0/1 99 30 19 11 0.37 exonic rs140290837 PCYT1A AR nonsynonymous SNV NM_005017 exon6 c.G478A p.E160K 0.00359425 0.0179 0.0011 0.0148 1 T 0.999 D -0.131 T 0.003 T 0.001 T Pathogenic 3_195975284_C->G 3 195975284 195975284 C G snp 76.77 0/1 99 9 5 4 0.44 intronic rs3772107 PCYT1A AR NM_005017 exon6 c.9636+90C>G 0.311901 0.7232 Uncertain 3_196022750_T->C 3 196022750 196022750 T C snp 510.77 0/1 99 31 13 18 0.58 intronic rs2293160 TCTEX1D2 AU NM_152773 exon2 c.4679-126T>C 0.426917 0.7996 Uncertain 3_196022961_G->T 3 196022961 196022961 G T snp 2782.77 0/1 99 248 132 116 0.47 intronic rs75016149 TCTEX1D2 AU NM_152773 exon2 c.4743+21G>T 0.0397364 0.0972 0.045825 0.0465 0.0678 Uncertain 3_196044894_G->C 3 196044894 196044894 G C snp 1097.77 0/1 99 108 57 51 0.47 ncRNA_intronic rs2270769 TM4SF19-TCTEX1D2 AU 0.40635 0.7946 0.257079 0.4445 0.8385 Uncertain 3_196051403_A->G 3 196051403 196051403 A G snp 188.77 0/1 99 17 10 7 0.41 ncRNA_exonic rs2280526 TM4SF19-AS1 AU 0.631789 0.873 Uncertain 3_196054439_T->G 3 196054439 196054439 T G snp 1018.77 0/1 99 92 51 41 0.45 exonic rs6785339 TM4SF19 AU nonsynonymous SNV NM_138461 exon2 c.A23C p.Q8P 0.630791 0.871 0.543595 0.6194 0.9060 0.15 T 0.0 P -1.019 T 0.0 T 0.0 T Pathogenic 3_196054488_A->G 3 196054488 196054488 A G snp 358.77 0/1 99 31 19 12 0.39 ncRNA_intronic rs6782336 TM4SF19-TCTEX1D2 AU 0.63119 0.871 0.541378 0.6205 0.9055 Uncertain 3_196096451_C->T 3 196096451 196096451 C T snp 507.77 1/1 39 13 0 13 1.0 intronic rs9860931 UBXN7 AU NM_015562 exon5 c.12827+69C>T 0.60643 0.8948 Uncertain 3_196118621_A->T 3 196118621 196118621 A T snp 4289.77 1/1 99 153 0 153 1.0 intronic rs6583305 UBXN7 AU NM_015562 exon7 c.35128-62A>T 0.445088 0.8026 Uncertain 3_196158469_CC->- 3 196158469 196158470 CC - indel 3009.73 1/1 99 57 0 57 1.0 intronic rs10532490 UBXN7 AU NM_015562 exon11 c.75642-728_75642-727delCC 0.302915 0.7242 0.2390 0.7258 Uncertain 3_196294104_C->G 3 196294104 196294104 C G snp 4425.77 1/1 99 160 0 160 1.0 UTR5 rs9842616 WDR53 AU 1 1 1 1 Uncertain 3_196296320_C->T 3 196296320 196296320 C T snp 44.74 1/1 6 2 0 2 1.0 intronic rs66570007 FBXO45 AU NM_001105573 exon1 c.318+147C>T 0.251797 0.5893 Uncertain 3_196386964_C->G 3 196386964 196386964 C G snp 3261.77 0/1 99 225 94 131 0.58 exonic rs1798631 NRROS AU synonymous SNV NM_198565 exon3 c.C450G p.A150A 0.808107 0.9325 0.739889 0.7869 0.9451 Uncertain 3_196434874_CT->- 3 196434874 196434875 CT - indel 579.73 0/1 99 34 15 19 0.56 intronic rs61013516 CEP19 AR NM_032898 exon1 c.362+91_362+92delCT 0.176318 0.5546 Uncertain 3_196435332_AG->- 3 196435332 196435333 AG - indel 1961.73 0/1 99 100 53 47 0.47 intronic rs398092103 CEP19 AR NM_032898 exon2 c.977-66_977-65delAG 0.436701 0.5952 Uncertain 3_196435534_T->C 3 196435534 196435534 T C snp 1457.77 0/1 99 131 66 65 0.5 exonic rs6776064 CEP19 AR nonsynonymous SNV NM_032898 exon2 c.A7G p.M3V 0.438099 0.5952 0.367184 0.3851 0.6156 0.97 T 0.000 P -0.935 T Pathogenic 3_196435606_-->A 3 196435606 196435606 - A indel 260.73 0/1 99 30 12 18 0.6 intronic rs201189060 CEP19 AR NM_032898 exon2 c.1177+8insA 0.205072 0.5546 Uncertain 3_196438744_A->G 3 196438744 196438744 A G snp 913.77 0/1 99 111 68 43 0.39 intronic rs7629566 CEP19 AR NM_032898 exon3 c.4378-55A>G 0.258986 0.5516 Uncertain 3_196438826_G->T 3 196438826 196438826 G T snp 770.77 0/1 99 97 63 34 0.35 UTR5 rs7639719 CEP19 AR 0.263578 0.5595 0.1553 0.5579 Uncertain 3_196443803_T->C 3 196443803 196443803 T C snp 289.77 0/1 99 58 40 18 0.31 intronic rs1906044 PIGX AU NM_001166304 exon2 c.4389+11T>C 0.679912 0.5327 0.699600 0.6499 0.5831 Uncertain 3_196443826_A->G 3 196443826 196443826 A G snp 313.77 0/1 99 54 36 18 0.33 intronic rs1906045 PIGX AU NM_001166304 exon2 c.4389+34A>G 0.45647 0.5317 0.392478 0.4286 0.5881 Uncertain 3_196448103_C->T 3 196448103 196448103 C T snp 650.77 0/1 99 81 46 35 0.43 intronic rs9864896 PIGX AU NM_001166304 exon3 c.9882-1182C>T 0.417332 0.5228 0.4016 0.5567 Uncertain 3_196453427_C->A 3 196453427 196453427 C A snp 1349.77 0/1 99 115 58 57 0.5 intronic rs1976847 PIGX AU NM_001166304 exon4 c.15390-1366C>A 0.464058 0.5317 Uncertain 3_196453654_C->A 3 196453654 196453654 C A snp 1111.77 0/1 99 87 45 42 0.48 intronic rs12637375 PIGX AU NM_001166304 exon4 c.15390-1139C>A 0.41274 0.5228 Uncertain 3_196533671_G->A 3 196533671 196533671 G A snp 1199.77 0/1 99 93 44 49 0.53 intronic rs35013100 PAK2 AU NM_002577 exon6 c.24040+114G>A 0.219649 0.3433 Uncertain 3_196541580_G->A 3 196541580 196541580 G A snp 2584.77 1/1 99 80 0 80 1.0 intronic rs11185455 PAK2 AU NM_002577 exon11 c.31922+141G>A 0.864417 1 Uncertain 3_196547446_G->C 3 196547446 196547446 G C snp 711.77 0/1 99 82 49 33 0.4 intronic rs2084382 PAK2 AU NM_002577 exon13 c.37921+8G>C 0.437101 0.3036 0.421882 0.3690 0.2814 Uncertain 3_196547538_G->A 3 196547538 196547538 G A snp 37.77 0/1 66 6 4 2 0.33 intronic rs2166799 PAK2 AU NM_002577 exon13 c.37921+100G>A 0.556709 0.3204 Uncertain 3_196613115_G->A 3 196613115 196613115 G A snp 1865.77 0/1 99 153 78 75 0.49 exonic rs531637804 SENP5 AU nonsynonymous SNV NM_152699 exon2 c.G1063A p.A355T 0.000599042 0.003 5.776e-05 0.0007 1 T 1 N -0.997 T 0.0 T 0.0 T Pathogenic 3_196656772_G->A 3 196656772 196656772 G A snp 680.77 1/1 51 20 0 20 1.0 intronic rs1602 SENP5 AU NM_152699 exon9 c.44502+218G>A 0.837061 0.9256 Uncertain 3_196657547_C->T 3 196657547 196657547 C T snp 170.9 1/1 15 5 0 5 1.0 intronic rs1147245 SENP5 AU NM_152699 exon10 c.45631-136C>T 0.439497 0.7232 Uncertain 3_196657671_T->- 3 196657671 196657671 T - indel 2176.73 1/1 99 71 0 71 1.0 intronic rs63736860 SENP5 AU NM_152699 exon10 c.45631-12delT 0.834864 0.9216 0.7760 0.9436 Uncertain 3_196666059_A->G 3 196666059 196666059 A G snp 3678.77 1/1 99 134 1 133 0.99 intronic rs553783 NCBP2 AU NM_007362 exon3 c.2240-62A>G 0.803514 0.9256 0.7635 0.9467 Uncertain 3_196669488_-->A 3 196669488 196669488 - A indel 2095.73 1/1 99 48 0 48 1.0 upstream rs3214858 NCBP2 AU 0.584465 0.7629 Uncertain 3_196669912_C->T 3 196669912 196669912 C T snp 1879.77 1/1 99 64 0 64 1.0 ncRNA_exonic rs335824 NCBP2-AS2 AU 0.426917 0.7232 0.3109 0.76 Uncertain 3_196674749_C->T 3 196674749 196674749 C T snp 3720.77 1/1 99 133 0 133 1.0 exonic rs4916589 PIGZ AU nonsynonymous SNV NM_025163 exon3 c.G1019A p.R340Q 0.632188 0.7659 0.607692 0.5911 0.8062 0.61 T 0.998 P -0.954 T 0.0 T 0.0 T Pathogenic 3_196674879_A->G 3 196674879 196674879 A G snp 7035.77 1/1 99 250 1 249 1.0 exonic rs12636891 PIGZ AU synonymous SNV NM_025163 exon3 c.T889C p.L297L 0.592452 0.755 0.492157 0.5381 0.7973 Uncertain 3_196674916_A->C 3 196674916 196674916 A C snp 7178.77 1/1 99 250 0 250 1.0 exonic rs1147240 PIGZ AU synonymous SNV NM_025163 exon3 c.T852G p.A284A 0.577276 0.7698 0.457558 0.4596 0.8003 Uncertain 3_196674972_C->T 3 196674972 196674972 C T snp 6950.77 1/1 99 240 1 239 1.0 exonic rs574365 PIGZ AU nonsynonymous SNV NM_025163 exon3 c.G796A p.A266T 0.805112 0.9286 0.575811 0.7699 0.9465 0.38 T 0.0 P -0.972 T 0.001 T 0.003 T Pathogenic 3_196674973_T->C 3 196674973 196674973 T C snp 6983.77 1/1 99 238 0 238 1.0 exonic rs573708 PIGZ AU synonymous SNV NM_025163 exon3 c.A795G p.A265A 0.817492 0.8899 0.619406 0.7716 0.9148 Uncertain 3_196675533_C->T 3 196675533 196675533 C T snp 298.77 0/1 99 33 19 14 0.42 exonic rs76438582 PIGZ AU nonsynonymous SNV NM_025163 exon3 c.G235A p.A79T 0.0061901 0.0228 0.0040 0.0243 0.63 T 1.000 N -1.065 T 0.0 T 0.001 T Pathogenic 3_196679055_A->G 3 196679055 196679055 A G snp 94.28 1/1 9 3 0 3 1.0 intronic rs471195 PIGZ AU NM_025163 exon2 c.4875+153A>G 0.705072 0.8502 Uncertain 3_196733368_C->G 3 196733368 196733368 C G snp 150.77 0/1 99 14 7 7 0.5 intronic rs114726464 MFI2 AU NM_005929 exon3 c.3177-51C>G 0.0507188 0.0843 0.025994 Uncertain 3_196735929_C->A 3 196735929 196735929 C A snp 321.77 0/1 99 25 14 11 0.44 intronic rs9823897 MFI2 AU NM_005929 exon5 c.5594+93C>A 0.144768 0.121 Uncertain 3_196742290_T->C 3 196742290 196742290 T C snp 1305.77 0/1 99 108 48 60 0.56 exonic rs9855410 MFI2 AU synonymous SNV NM_005929 exon9 c.A1179G p.P393P 0.277356 0.2827 0.270580 0.3478 0.4230 Uncertain 3_196742395_G->A 3 196742395 196742395 G A snp 1554.77 0/1 99 132 70 62 0.47 intronic rs41284049 MFI2 AU NM_005929 exon8 c.12145+8G>A 0.229233 0.2312 0.236383 0.2497 0.2756 Uncertain 3_196743130_T->C 3 196743130 196743130 T C snp 1855.77 0/1 99 173 93 80 0.46 exonic rs6779362 MFI2 AU synonymous SNV NM_005929 exon8 c.A1011G p.T337T 0.319089 0.2976 0.301861 0.2671 0.3026 Uncertain 3_196746629_T->C 3 196746629 196746629 T C snp 2620.77 0/1 99 175 67 108 0.62 intronic rs1056664 MFI2 AU NM_033316 exon1 c.197-43T>C 0.266374 0.2847 0.239428 0.2515 0.2940 Uncertain 3_196749798_T->G 3 196749798 196749798 T G snp 297.77 0/1 99 33 17 16 0.48 intronic rs2288766 MFI2 AU NM_005929 exon12 c.19585-29T>G 0.802117 0.8472 0.832462 0.8069 0.8443 Uncertain 3_196750016_A->G 3 196750016 196750016 A G snp 844.77 0/1 99 78 39 39 0.5 intronic rs2288765 MFI2 AU NM_005929 exon12 c.19742+32A>G 0.790735 0.8056 0.829591 0.7947 0.8182 Uncertain 3_196750841_C->A 3 196750841 196750841 C A snp 787.77 0/1 99 88 49 39 0.44 intronic rs2280294 MFI2 AU NM_005929 exon13 c.20931-332C>A 0.455671 0.7738 Uncertain 3_196751474_C->T 3 196751474 196751474 C T snp 71.77 0/1 99 10 6 4 0.4 intronic rs2280296 MFI2 AU NM_005929 exon13 c.21114+118C>T 0.671126 0.6319 Uncertain 3_196753355_T->C 3 196753355 196753355 T C snp 436.77 0/1 99 21 8 13 0.62 intronic rs4916598 MFI2 AU NM_005929 exon14 c.23288-175T>C 0.360623 0.6637 Uncertain 3_196754519_G->A 3 196754519 196754519 G A snp 284.77 0/1 99 26 14 12 0.46 intronic rs2276789 MFI2 AU NM_005929 exon15 c.24384-107G>A 0.256789 0.124 Uncertain 3_196754819_C->G 3 196754819 196754819 C G snp 539.77 0/1 99 33 13 20 0.61 intronic rs2276788 MFI2 AU NM_005929 exon15 c.24539+38C>G 0.357827 0.6766 0.281923 0.4319 0.6845 Uncertain 3_196754856_C->A 3 196754856 196754856 C A snp 185.77 0/1 99 13 6 7 0.54 intronic rs12637442 MFI2 AU NM_005929 exon15 c.24539+75C>A 0.322684 0.6558 Uncertain 3_196795720_T->C 3 196795720 196795720 T C snp 1346.77 1/1 96 48 0 48 1.0 intronic rs6804448 DLG1 AU NM_001204387 exon7 c.23915+312T>C 0.447085 0.7371 Uncertain 3_196795879_-->CT 3 196795879 196795879 - CT indel 371.75 1/1 24 8 0 8 1.0 intronic rs57032552 DLG1 AU NM_001204388 exon7 c.24596-210insCT 0.445887 0.7361 Uncertain 3_196803647_T->C 3 196803647 196803647 T C snp 1057.77 1/1 78 29 0 29 1.0 intronic rs12632559 DLG1 AU NM_004087 exon8 c.32063+91T>C 0.252596 0.622 Uncertain 3_196869688_A->G 3 196869688 196869688 A G snp 1848.77 1/1 99 70 0 70 1.0 intronic rs7628652 DLG1 AU NM_001204388 exon19 c.98146+49A>G 0.993211 0.999 0.995538 0.9987 1 Uncertain 3_197020509_T->C 3 197020509 197020509 T C snp 54.74 1/1 6 2 0 2 1.0 intronic rs1668862 DLG1 AU NM_004087 exon24 c.251723-2707T>C 0.616813 0.7788 Uncertain 3_197020630_G->A 3 197020630 197020630 G A snp 1469.77 1/1 99 59 0 59 1.0 intronic rs364644 DLG1 AU NM_004087 exon24 c.251723-2586G>A 0.616613 0.7788 Uncertain 3_197020718_T->C 3 197020718 197020718 T C snp 1979.77 1/1 99 73 0 73 1.0 intronic rs434681 DLG1 AU NM_004087 exon24 c.251723-2498T>C 0.619409 0.7788 0.7083 . Uncertain 3_197020780_-->A 3 197020780 197020780 - A indel 1485.73 1/1 99 50 0 50 1.0 ncRNA_exonic rs3836429 MIR4797 AU 0.615016 0.7778 1 . Uncertain 3_197020871_G->A 3 197020871 197020871 G A snp 640.77 1/1 48 22 0 22 1.0 intronic rs450891 DLG1 AU NM_004087 exon24 c.251723-2345G>A 0.616613 0.7788 Uncertain 3_197023824_-->GGG 3 197023824 197023824 - GGG indel 246.8 1/1 18 6 0 6 1.0 intronic rs138330451 DLG1 AU NM_004087 exon25 c.252563-232insGGG 0.121406 0.2788 Uncertain 3_197361928_C->G 3 197361928 197361928 C G snp 303.77 0/1 99 29 16 13 0.45 intergenic rs2261512 LOC220729 AU 0.335064 0.2679 Uncertain 3_197361944_G->T 3 197361944 197361944 G T snp 265.77 0/1 99 47 34 13 0.28 intergenic rs11918438 LOC220729 AU 0.305112 0.2411 Uncertain 3_197362030_C->T 3 197362030 197362030 C T snp 1107.77 0/1 99 190 133 57 0.3 intergenic rs2451791 LOC220729 AU Uncertain 3_197362080_T->A 3 197362080 197362080 T A snp 1377.77 0/1 99 233 157 76 0.33 intergenic rs9815968 LOC220729 AU Uncertain 3_197362103_G->T 3 197362103 197362103 G T snp 1131.77 0/1 99 224 160 64 0.29 intergenic rs28434055 LOC220729 AU 0.260383 0.2629 Uncertain 3_197362179_T->C 3 197362179 197362179 T C snp 727.77 0/1 99 109 78 31 0.28 intergenic rs11915811 LOC220729 AU 0.260583 0.1677 Uncertain 3_197362184_C->T 3 197362184 197362184 C T snp 525.77 0/1 99 97 72 25 0.26 intergenic rs9867990 LOC220729 AU Uncertain 3_197362187_C->T 3 197362187 197362187 C T snp 531.77 0/1 99 93 68 25 0.27 intergenic rs9867993 LOC220729 AU Uncertain 3_197408572_C->T 3 197408572 197408572 C T snp 113.77 0/1 99 9 5 4 0.44 intronic rs74746423 KIAA0226 AU NM_001145642 exon6 c.6817-133C>T 0.00379393 0.0109 Uncertain 3_197431620_G->A 3 197431620 197431620 G A snp 65.77 0/1 94 10 6 4 0.4 intronic rs144772735 KIAA0226 AU NM_001145642 exon18 c.29684+48G>A 0.00319489 0.0149 0.0015 0.0209 Uncertain 3_197432063_T->C 3 197432063 197432063 T C snp 3244.77 0/1 99 250 114 136 0.54 intronic rs58507505 KIAA0226 AU NM_001145642 exon19 c.30158+17T>C 0.211062 0.1052 0.239719 0.1832 0.0884 Uncertain 3_197482760_C->G 3 197482760 197482760 C G snp 2294.77 1/1 99 79 0 79 1.0 intronic rs13068986 FYTTD1 AU NM_001011537 exon2 c.25+55C>G 0.97484 1 0.947219 Uncertain 3_197483279_A->G 3 197483279 197483279 A G snp 3770.77 1/1 99 129 0 129 1.0 intronic rs6794391 FYTTD1 AU NM_032288 exon2 c.6454-17A>G 0.891573 0.994 0.848224 0.8799 0.9961 Uncertain 3_197490286_A->- 3 197490286 197490286 A - indel 35.73 0/1 73 34 26 8 0.24 intronic rs749568528 FYTTD1 AU NM_032288 exon3 c.18467-5023delA Uncertain 3_197495334_G->A 3 197495334 197495334 G A snp 2950.77 1/1 99 114 0 114 1.0 exonic rs3205525 FYTTD1 AU nonsynonymous SNV NM_032288 exon3 c.G260A p.R87H 0.751997 0.9415 0.715055 0.8182 0.9440 0.12 T 1.000 P -1.045 T 0.073 T 0.022 T Pathogenic 3_197496984_A->G 3 197496984 197496984 A G snp 1161.77 1/1 84 37 0 37 1.0 intronic rs1708460 FYTTD1 AU NM_032288 exon4 c.20160-18A>G 0.992412 1 0.985310 0.9850 1 Uncertain 3_197500394_-->TTTG 3 197500394 197500394 - TTTG indel 4750.73 1/1 99 91 0 91 1.0 intronic rs35962724 FYTTD1 AU NM_032288 exon5 c.23528+24insTTTG 0.766573 0.9712 0.7734 0.9247 Uncertain 3_197500791_A->T 3 197500791 197500791 A T snp 52.74 1/1 6 2 0 2 1.0 intronic rs7615204 FYTTD1 AU NM_032288 exon6 c.24177-228A>T 0.890575 0.994 Uncertain 3_197544201_A->G 3 197544201 197544201 A G snp 1273.77 1/1 93 38 0 38 1.0 intronic rs1273552 LRCH3 AU NM_032773 exon3 c.26024+28A>G 0.89357 0.994 0.806491 Uncertain 3_197544209_-->TGTATTT 3 197544209 197544209 - TGTATTT indel 2049.73 1/1 81 29 0 29 1.0 intronic rs139714175 LRCH3 AU NM_032773 exon3 c.26024+36insTGTATTT Uncertain 3_197544217_C->G 3 197544217 197544217 C G snp 220.84 1/1 18 7 0 7 1.0 intronic rs200477482 LRCH3 AU NM_032773 exon3 c.26024+44C>G 0.487021 0.5575 0.1077 0.1527 Uncertain 3_197544222_T->C 3 197544222 197544222 T C snp 93.28 1/1 9 3 0 3 1.0 intronic rs769541383 LRCH3 AU NM_032773 exon3 c.26024+49T>C 0 0 Uncertain 3_197557635_C->T 3 197557635 197557635 C T snp 5573.77 1/1 99 206 0 206 1.0 splicing rs501101 LRCH3 AU NM_032773 exon7 c.39491-5C>T 0.763978 0.9276 0.727049 0.8064 0.9289 Pathogenic 3_197574248_T->G 3 197574248 197574248 T G snp 343.77 0/1 99 28 13 15 0.54 intronic rs73089359 LRCH3 AU NM_032773 exon11 c.56130-31T>G 0.113618 0.1845 0.072736 0.0817 0.1739 Uncertain 3_197574936_G->C 3 197574936 197574936 G C snp 538.77 0/1 99 43 20 23 0.53 intronic rs2306439 LRCH3 AU NM_032773 exon12 c.56743+44G>C 0.371006 0.4554 0.365677 0.4436 0.4832 Uncertain 3_197579466_C->T 3 197579466 197579466 C T snp 1464.77 0/1 99 171 102 69 0.4 exonic rs36078463 LRCH3 AU nonsynonymous SNV NM_032773 exon13 c.C1565T p.P522L 0.105232 0.1835 0.084884 0.0764 0.1688 0.1 T 0.0 P -1.080 T 0.01 T 0.015 T Pathogenic 3_197581147_A->G 3 197581147 197581147 A G snp 1095.77 0/1 99 70 28 42 0.6 intronic rs9863587 LRCH3 AU NM_032773 exon14 c.63113-115A>G 0.619609 0.496 Uncertain 3_197597194_A->G 3 197597194 197597194 A G snp 273.77 0/1 99 28 16 12 0.43 intronic rs11185486 LRCH3 AU NM_032773 exon18 c.79000+45A>G 0.177316 0.244 0.140551 0.1172 0.2226 Uncertain 3_197653147_A->G 3 197653147 197653147 A G snp 155.77 0/1 99 10 5 5 0.5 intronic rs9823673 IQCG AU NM_001134435 exon6 c.36526+171A>G 0.283546 0.2242 Uncertain 3_197659160_C->G 3 197659160 197659160 C G snp 2314.77 0/1 99 233 130 103 0.44 exonic rs67877771 IQCG AU nonsynonymous SNV NM_001134435 exon5 c.G529C p.D177H 0.281749 0.2262 0.261341 0.1912 0.2088 0.04 T 0.960 P -0.912 T 1.0 D 0.971 D Pathogenic 3_197665599_G->T 3 197665599 197665599 G T snp 1670.77 0/1 99 166 94 72 0.43 exonic rs9880989 IQCG AU nonsynonymous SNV NM_001134435 exon4 c.C335A p.A112D 0.281749 0.2302 0.261187 0.1913 0.2100 0.63 T 0.0 P -0.962 T 0.575 P 0.101 P Pathogenic 3_197671027_C->T 3 197671027 197671027 C T snp 192.77 0/1 47 8 2 6 0.75 intronic rs3749255 IQCG AU NM_001134435 exon9 c.54472+105C>T 0.373203 0.1607 Uncertain 3_197687433_-->A 3 197687433 197687433 - A indel 426.73 0/1 99 30 16 14 0.47 intronic rs113060473 LMLN AU NM_033029 exon1 c.219+122insA 0.395966 0.1538 Uncertain 3_197762623_G->A 3 197762623 197762623 G A snp 55.77 0/1 84 11 8 3 0.27 intronic rs7640149 LMLN AU NM_033029 exon15 c.75611-80G>A 0.256789 0.0377 Uncertain 4_53233_C->A 4 53233 53233 C A snp 115.77 0/1 99 250 227 23 0.09 UTR5 rs7658521 ZNF595 AU Uncertain 4_53428_G->A 4 53428 53428 G A snp 6811.77 1/1 99 181 0 181 1.0 intronic rs2859214 ZNF595 AU NM_001286052 exon1 c.3+43G>A 0.996805 0.998 0.999385 0.9891 0.9918 Uncertain 4_53498_A->C 4 53498 53498 A C snp 1011.77 1/1 78 26 0 26 1.0 intronic rs2780407 ZNF595 AU NM_001286052 exon1 c.3+113A>C 0.999401 1 Uncertain 4_60245_C->T 4 60245 60245 C T snp 291.77 0/1 99 250 220 30 0.12 intronic ZNF595 AU NM_182524 exon3 c.6664+199C>T Uncertain 4_60303_G->A 4 60303 60303 G A snp 339.77 0/1 99 250 222 28 0.11 intronic rs3864127 ZNF595 AU NM_182524 exon3 c.6664+257G>A 0.3902 0.2466 Uncertain 4_60335_A->T 4 60335 60335 A T snp 4684.77 0/1 99 245 63 182 0.74 intronic rs2780400 ZNF595 AU NM_182524 exon3 c.6664+289A>T 0.5158 0.5360 Uncertain 4_60400_G->A 4 60400 60400 G A snp 1104.77 0/1 99 148 96 52 0.35 intronic rs3864128 ZNF595 AU NM_182524 exon3 c.6664+354G>A Uncertain 4_60448_G->T 4 60448 60448 G T snp 927.77 0/1 99 62 30 32 0.52 intronic rs2780399 ZNF595 AU NM_182524 exon3 c.6664+402G>T Uncertain 4_67801_C->T 4 67801 67801 C T snp 350.77 0/1 99 146 123 23 0.16 intronic rs77175674 ZNF595 AU NM_182524 exon3 c.6664+7755C>T 0.1088 0.0986 Uncertain 4_67846_C->A 4 67846 67846 C A snp 229.77 0/1 99 81 61 20 0.25 intronic rs7437270 ZNF595 AU NM_182524 exon3 c.6664+7800C>A Uncertain 4_67857_C->A 4 67857 67857 C A snp 110.77 0/1 99 67 55 12 0.18 intronic rs6599364 ZNF595 AU NM_182524 exon3 c.6664+7811C>A Uncertain 4_85995_-->A 4 85995 85995 - A indel 3375.73 1/1 99 87 0 87 1.0 exonic rs397762835 ZNF595 AU unknown 1 1 0.999326 0.9964 0.9933 Uncertain 4_86016_-->C 4 86016 86016 - C indel 3268.73 1/1 99 81 0 81 1.0 exonic rs397756271 ZNF595 AU unknown 1 1 0.998245 1 1 Uncertain 4_86018_T->C 4 86018 86018 T C snp 73.77 0/1 99 32 27 5 0.16 exonic rs201008310 ZNF595 AU unknown 1 1 Uncertain 4_86022_C->A 4 86022 86022 C A snp 897.77 1/1 72 26 0 26 1.0 exonic rs74490941 ZNF595 AU unknown 1 1 0.9997 1 Uncertain 4_86023_A->T 4 86023 86023 A T snp 839.77 1/1 66 26 0 26 1.0 exonic rs78362263 ZNF595 AU unknown 1 1 0.9363 0.8696 Uncertain 4_86024_G->A 4 86024 86024 G A snp 883.77 1/1 69 26 0 26 1.0 exonic rs77715101 ZNF595 AU unknown 1 1 0.9997 1 Uncertain 4_86033_AT->- 4 86033 86034 AT - indel 988.73 1/1 75 25 0 25 1.0 exonic;splicing ZNF595;ZNF595 UN unknown 0.997765 Uncertain 4_86035_C->T 4 86035 86035 C T snp 841.77 1/1 66 26 0 26 1.0 exonic;splicing rs17857098 ZNF595;ZNF595 UN unknown Uncertain 4_86040_G->T 4 86040 86040 G T snp 819.77 1/1 63 26 0 26 1.0 exonic;splicing rs17853557 ZNF595;ZNF595 UN unknown 1 1 0.9998 1 Uncertain 4_86042_A->G 4 86042 86042 A G snp 875.77 1/1 69 26 0 26 1.0 exonic rs17857099 ZNF595 AU unknown 1 1 0.9999 1 Uncertain 4_86044_G->A 4 86044 86044 G A snp 876.77 1/1 69 26 0 26 1.0 exonic rs17857100 ZNF595 AU unknown 1 1 0.9999 1 Uncertain 4_86738_A->G 4 86738 86738 A G snp 3309.77 1/1 99 123 0 123 1.0 exonic rs2353625 ZNF595 AU unknown 1 1 0.9999 1 Uncertain 4_87277_G->C 4 87277 87277 G C snp 6045.77 1/1 99 241 0 241 1.0 exonic rs2006764 ZNF595 AU unknown 1 1 0.9999 1 Uncertain 4_87313_-->A 4 87313 87313 - A indel 10203.7 1/1 99 243 0 243 1.0 exonic rs397952018 ZNF595 AU unknown 0.9995 1 Uncertain 4_135694_G->A 4 135694 135694 G A snp 1088.77 1/1 81 30 0 30 1.0 intronic rs12504142 ZNF718 AU NM_001039127 exon5 c.101319-19007G>A 0.933107 0.8661 Uncertain 4_299259_A->T 4 299259 299259 A T snp 438.77 0/1 99 40 22 18 0.45 intergenic ZNF732 AU 0.100439 0.1032 Uncertain 4_331658_T->C 4 331658 331658 T C snp 1224.77 0/1 99 131 79 52 0.4 UTR5 rs3749520 ZNF141 AR 0.427117 0.3125 Uncertain 4_331666_G->C 4 331666 331666 G C snp 1344.77 0/1 99 144 87 57 0.4 UTR5 rs3749521 ZNF141 AR 0.427117 0.3125 Uncertain 4_331675_C->A 4 331675 331675 C A snp 1414.77 0/1 99 156 93 63 0.4 UTR5 ZNF141 AR 0.165136 0.1319 0.158125 Uncertain 4_331693_-->C 4 331693 331693 - C indel 7687.73 1/1 99 182 0 182 1.0 UTR5 rs397794772 ZNF141 AR 1 1 Uncertain 4_331740_G->T 4 331740 331740 G T snp 2167.77 0/1 99 227 127 100 0.44 UTR5 rs3749523 ZNF141 AR 0.224641 0.1319 0.231662 0.1490 0.1296 Uncertain 4_343795_-->TGCT 4 343795 343795 - TGCT indel 1864.73 0/1 99 66 37 29 0.44 intronic rs59301713 ZNF141 AR NM_003441 exon3 c.6447+5576insTGCT 0.430911 0.3185 Uncertain 4_367142_A->G 4 367142 367142 A G snp 874.77 0/1 99 167 127 40 0.24 exonic rs539002588 ZNF141 AR nonsynonymous SNV NM_003441 exon4 c.A916G p.T306A 4.15e-05 0 0.726 N -1.021 T 0.02 T 0.027 T Pathogenic 4_367169_G->A 4 367169 367169 G A snp 1145.77 0/1 99 163 117 46 0.28 exonic ZNF141 AR nonsynonymous SNV NM_003441 exon4 c.G943A p.E315K 0.0100 0.0111 0.0 P -1.032 T 0.681 T 0.681 P Pathogenic 4_367199_A->T 4 367199 367199 A T snp 1114.77 0/1 99 164 117 47 0.29 exonic ZNF141 AR nonsynonymous SNV NM_003441 exon4 c.A973T p.T325S 0.0961 0.0753 1 N -0.907 T 0.034 T 0.038 T Pathogenic 4_367201_C->A 4 367201 367201 C A snp 1180.77 0/1 99 162 112 50 0.31 exonic ZNF141 AR synonymous SNV NM_003441 exon4 c.C975A p.T325T 0.0966 0.0759 Uncertain 4_367206_C->G 4 367206 367206 C G snp 1099.77 0/1 99 157 109 48 0.31 exonic ZNF141 AR nonsynonymous SNV NM_003441 exon4 c.C980G p.T327S 0.1097 0.0871 1 N -1.007 T 0.009 T 0.014 T Pathogenic 4_367267_T->C 4 367267 367267 T C snp 913.77 0/1 99 154 117 37 0.24 exonic ZNF141 AR synonymous SNV NM_003441 exon4 c.T1041C p.A347A 0.0269569 0.0169 0.0012 0.0008 Uncertain 4_376888_C->A 4 376888 376888 C A snp 2226.77 0/1 99 181 85 96 0.53 intergenic ZNF141 AR 0.430112 0.3194 0.4820 0.3333 0.96 T 0.001 P -1.153 T 0.88 T 0.608 P Uncertain 4_420664_G->T 4 420664 420664 G T snp 2491.77 0/1 99 231 124 107 0.46 ncRNA_exonic ABCA11P AU 0.174521 0.1151 0.1187 0.1152 Uncertain 4_420688_C->T 4 420688 420688 C T snp 2423.77 0/1 99 226 122 104 0.46 ncRNA_exonic ABCA11P AU 0.389377 0.2867 0.3813 0.3135 Uncertain 4_429720_T->C 4 429720 429720 T C snp 2349.77 0/1 99 198 96 102 0.52 ncRNA_intronic ABCA11P AU 0.391174 0.2857 Uncertain 4_437831_C->T 4 437831 437831 C T snp 1895.77 0/1 99 161 79 82 0.51 exonic ZNF721 AU nonsynonymous SNV NM_133474 exon3 c.G425A p.R142H 0.163339 0.1141 0.152130 0.1108 0.1067 0.04 T 0.000 P -0.911 T 0.923 T 0.212 D Pathogenic 4_500631_A->G 4 500631 500631 A G snp 3448.77 1/1 99 132 0 132 1.0 intronic PIGG AR NM_017733 exon4 c.8069-562A>G 0.867013 0.998 Uncertain 4_502911_T->C 4 502911 502911 T C snp 46.77 0/1 31 3 1 2 0.67 intronic PIGG AR NM_017733 exon5 c.9635+152T>C 0.271965 0.1875 Uncertain 4_515028_A->G 4 515028 515028 A G snp 762.77 0/1 99 66 39 27 0.41 exonic rs201146360 PIGG AR nonsynonymous SNV NM_001289052 exon5 c.A899G p.Y300C 0.000199681 8.247e-06 0 0.17 T 1 D -0.596 T 1.0 D 0.987 D Pathogenic 4_521068_A->T 4 521068 521068 A T snp 182.9 1/1 15 5 0 5 1.0 intronic rs7697650 PIGG AR NM_017733 exon10 c.27895+49A>T 0.972244 1 0.969690 0.9913 1 Uncertain 4_648643_G->A 4 648643 648643 G A snp 2585.77 1/1 99 95 0 95 1.0 exonic rs10902758 PDE6B AR,AD nonsynonymous SNV NM_000283 exon6 c.G958A p.V320I 0.999002 1 0.998924 0.9997 1 1 T 0.002 P -0.951 T 0.0 T 0.001 T CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000153663.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 4_650774_G->A 4 650774 650774 G A snp 919.77 0/1 99 106 67 39 0.37 exonic rs60635284 PDE6B AR,AD nonsynonymous SNV NM_000283 exon9 c.G1219A p.G407R 0.000798722 0.002 0.0001 0.0013 0 D 1 D 0.316 D 1.0 D 0.999 D ID=CM153024;DIS=Retinal dystrophy;TAG=DM;PUB=25356976 DM Pathogenic 4_663908_A->G 4 663908 663908 A G snp 2647.77 1/1 99 110 0 110 1.0 UTR3 rs28675771 PDE6B AR,AD 0.547923 0.4603 0.579271 0.6146 0.4241 Uncertain 4_666406_G->T 4 666406 666406 G T snp 30.77 0/1 59 5 3 2 0.4 intronic rs142229196 ATP5I AU NM_007100 exon1 c.20+98G>T Uncertain 4_677103_G->A 4 677103 677103 G A snp 3965.77 1/1 99 145 0 145 1.0 exonic rs61031375 MFSD7 AU synonymous SNV NM_001294342 exon6 c.C693T p.L231L 0.0714856 0.2708 0.001538 0.0351 0.2471 Uncertain 4_738512_T->C 4 738512 738512 T C snp 871.77 1/1 66 24 0 24 1.0 intronic rs6841958 PCGF3 AU NM_006315 exon8 c.11007+36T>C 0.777356 0.8185 0.8017 0.8380 Uncertain 4_755025_G->A 4 755025 755025 G A snp 577.77 0/1 99 59 36 23 0.39 intronic rs2242233 PCGF3 AU NM_006315 exon9 c.27597-41G>A 0.201278 0.2044 0.228206 0.2526 0.2042 Uncertain 4_755210_A->G 4 755210 755210 A G snp 2727.77 0/1 99 245 123 122 0.5 splicing rs2242235 PCGF3 AU NM_006315 exon9 c.27735+6A>G 0.0838658 0.0665 0.065989 0.0892 0.0716 Pathogenic 4_759709_A->G 4 759709 759709 A G snp 1918.77 1/1 99 61 0 61 1.0 intronic rs6810428 PCGF3 AU NM_006315 exon11 c.32350-110A>G 0.358826 0.3968 Uncertain 4_759721_C->T 4 759721 759721 C T snp 762.77 0/1 99 70 38 32 0.46 intronic rs62294078 PCGF3 AU NM_006315 exon11 c.32350-98C>T 0.0966454 0.0665 Uncertain 4_759733_T->C 4 759733 759733 T C snp 2734.77 1/1 99 87 0 87 1.0 intronic rs6816483 PCGF3 AU NM_006315 exon11 c.32350-86T>C 0.669928 0.5764 Uncertain 4_759872_T->C 4 759872 759872 T C snp 1667.77 0/1 99 192 113 79 0.41 UTR3 rs73058482 PCGF3 AU 0.0834665 0.0655 0.064100 0.0887 0.0717 Uncertain 4_780286_C->G 4 780286 780286 C G snp 1975.77 1/1 99 63 0 63 1.0 UTR3 rs10794536 CPLX1 AU 0.83766 0.7133 0.863911 0.8273 0.7352 Uncertain 4_786401_T->C 4 786401 786401 T C snp 4001.77 1/1 99 147 0 147 1.0 splicing rs2306251 CPLX1 AU NM_006651 exon2 c.6108+5T>C 0.298922 0.2738 0.296526 0.3448 0.2792 Pathogenic 4_786508_T->C 4 786508 786508 T C snp 389.77 1/1 30 13 0 13 1.0 intronic rs2306250 CPLX1 AU NM_006651 exon2 c.6108+112T>C 0.612021 0.4544 Uncertain 4_818440_G->A 4 818440 818440 G A snp 7618.77 1/1 99 250 2 248 0.99 intronic rs2276906 CPLX1 AU NM_006651 exon3 c.38101+51G>A 0.321685 0.2173 0.3767 0.2699 Uncertain 4_843622_-->C 4 843622 843622 - C indel 1851.73 ./1 99 105 4 101 0.96 intronic GAK AU NM_001286833 exon2 c.219-57insC Uncertain 4_843623_C->- 4 843623 843623 C - indel 1851.73 ./1 99 105 4 101 0.96 intronic rs33919242 GAK AU NM_001286833 exon2 c.219-56delC 0.919928 0.9911 Uncertain 4_843630_C->T 4 843630 843630 C T snp 1290.77 0/1 99 95 41 54 0.57 intronic rs571586422 GAK AU NM_001286833 exon2 c.219-49C>T 0.234225 0.379 0.5714 0.7714 Uncertain 4_843695_A->G 4 843695 843695 A G snp 2629.77 1/1 99 80 0 80 1.0 exonic rs8093 GAK AU synonymous SNV NM_005255 exon27 c.T3819C p.A1273A 0.800719 0.877 0.749615 0.7317 0.8864 1.000 P -1.040 T Likely benign 4_845772_T->C 4 845772 845772 T C snp 2711.77 1/1 99 91 0 91 1.0 intronic rs10031922 GAK AU NM_001286833 exon4 c.2302+10T>C 0.974641 1 0.969629 0.9607 1 Uncertain 4_845841_C->T 4 845841 845841 C T snp 476.77 0/1 99 30 12 18 0.6 intronic rs17165087 GAK AU NM_001286833 exon4 c.2302+79C>T 0.210863 0.3115 Uncertain 4_858691_A->G 4 858691 858691 A G snp 50.74 1/1 6 2 0 2 1.0 intronic rs2306249 GAK AU NM_001286833 exon6 c.15449-218A>G 0.652955 0.6567 Uncertain 4_858866_G->A 4 858866 858866 G A snp 1474.77 0/1 99 126 57 69 0.55 intronic rs1026739 GAK AU NM_001286833 exon6 c.15449-43G>A 0.270966 0.3671 0.220898 0.3016 0.4708 Uncertain 4_858874_-->C 4 858874 858874 - C indel 5266.73 1/1 99 128 0 128 1.0 intronic rs3214922 GAK AU NM_001286833 exon6 c.15449-35insC 0.707468 0.8512 0.653754 0.6826 0.8493 Uncertain 4_858941_T->C 4 858941 858941 T C snp 3061.77 1/1 99 108 0 108 1.0 exonic rs1026738 GAK AU synonymous SNV NM_005255 exon23 c.A3135G p.A1045A 0.975439 1 0.972209 0.9604 0.9999 0.0 P -1.010 T Likely benign 4_860146_A->G 4 860146 860146 A G snp 738.77 1/1 54 24 0 24 1.0 splicing rs2306248 GAK AU NM_001286833 exon7 c.16691-5A>G 0.652955 0.6567 0.624481 0.6388 0.6574 Pathogenic 4_860192_A->G 4 860192 860192 A G snp 1049.77 1/1 75 41 0 41 1.0 exonic rs1064207 GAK AU synonymous SNV NM_005255 exon22 c.T3003C p.S1001S 0.652756 0.6567 0.624865 0.6393 0.6583 1.000 P -1.058 T Likely benign 4_862502_T->C 4 862502 862502 T C snp 729.77 0/1 99 53 23 30 0.57 intronic rs2306244 GAK AU NM_001286833 exon9 c.19013+29T>C 0.211861 0.3145 0.143198 0.2346 0.3031 Uncertain 4_871624_C->T 4 871624 871624 C T snp 632.77 0/1 99 90 62 28 0.31 intronic rs1564281 GAK AU NM_001286833 exon13 c.28137+27C>T 0.352236 0.2817 0.392511 0.3843 0.2959 Uncertain 4_871675_A->G 4 871675 871675 A G snp 1436.77 1/1 99 42 0 42 1.0 intronic rs1564280 GAK AU NM_001286833 exon13 c.28137+78A>G 0.829073 0.8512 Uncertain 4_875671_T->C 4 875671 875671 T C snp 1150.77 0/1 99 77 32 45 0.58 intronic rs45486093 GAK AU NM_001286833 exon14 c.32234-23T>C 0.181909 0.3115 0.123993 0.2649 0.3832 Uncertain 4_875887_G->A 4 875887 875887 G A snp 765.77 0/1 99 64 36 28 0.44 intronic rs2279186 GAK AU NM_001286833 exon14 c.32368+59G>A 0.197484 0.1032 Uncertain 4_876318_C->T 4 876318 876318 C T snp 531.77 0/1 99 23 6 17 0.74 intronic rs3736087 GAK AU NM_001286833 exon15 c.33024-166C>T 0.176717 0.3115 Uncertain 4_877289_C->T 4 877289 877289 C T snp 2752.77 0/1 99 229 122 107 0.47 intronic rs376139504 GAK AU NM_001286833 exon16 c.33791+38C>T 0.000231 0.0002 0.0016 Uncertain 4_877709_T->C 4 877709 877709 T C snp 1045.77 1/1 78 28 0 28 1.0 intronic rs3736083 GAK AU NM_001286833 exon17 c.34364-115T>C 0.492212 0.4742 Uncertain 4_877919_C->T 4 877919 877919 C T snp 2242.77 0/1 99 165 71 94 0.57 intronic rs41286653 GAK AU NM_001286833 exon17 c.34414+45C>T 0.0417332 0.0298 0.044825 0.0219 0.0316 Uncertain 4_878048_C->T 4 878048 878048 C T snp 149.77 0/1 99 11 6 5 0.45 intronic rs899387 GAK AU NM_001286833 exon17 c.34414+174C>T 0.43111 0.3254 Uncertain 4_882845_C->T 4 882845 882845 C T snp 101.77 0/1 99 11 7 4 0.36 intronic rs9328759 GAK AU NM_001286833 exon18 c.39298+87C>T 0.828075 0.6944 Uncertain 4_882849_C->T 4 882849 882849 C T snp 53.77 0/1 82 10 7 3 0.3 intronic rs9328760 GAK AU NM_001286833 exon18 c.39298+91C>T 0.827875 0.6944 Uncertain 4_887514_C->- 4 887514 887514 C - indel 672.73 1/1 72 25 0 25 1.0 intronic rs33951409 GAK AU NM_005255 exon21 c.44201-147delC 0.49381 0.5327 Uncertain 4_892083_GCA->- 4 892083 892085 GCA - indel 1470.73 1/1 78 32 0 32 1.0 intronic rs3830209 GAK AU NM_001286833 exon23 c.48486+137_48486+139delGCA 0.458866 0.621 Uncertain 4_906131_C->G 4 906131 906131 C G snp 143.77 0/1 99 13 6 7 0.54 intronic rs11248057 GAK AU NM_005255 exon26 c.63062-391C>G 0.286941 0.4107 Uncertain 4_906647_A->G 4 906647 906647 A G snp 4623.77 1/1 99 177 0 177 1.0 intronic rs2279178 GAK AU NM_005255 exon26 c.63122+65A>G 0.858027 0.8085 0.875383 Uncertain 4_941518_C->T 4 941518 941518 C T snp 859.77 0/1 99 44 14 30 0.68 UTR5 rs2290402 TMEM175 AU 0.150359 0.3056 0.122914 0.1609 0.3093 Uncertain 4_942006_G->A 4 942006 942006 G A snp 1943.77 0/1 99 142 63 79 0.56 UTR5 rs2290403 TMEM175 AU 0.291933 0.1984 0.362681 0.3306 0.2085 Uncertain 4_945225_A->G 4 945225 945225 A G snp 44.74 1/1 6 2 0 2 1.0 intronic rs2290404 TMEM175 AU NM_001297423 exon5 c.784+179A>G 0.459065 0.3938 Uncertain 4_946226_T->C 4 946226 946226 T C snp 1051.77 1/1 78 39 0 39 1.0 exonic rs11552301 TMEM175 AU synonymous SNV NM_001297424 exon5 c.T204C p.I68I 0.647564 0.7222 0.641781 0.5964 0.7309 1.000 P -1.005 T Likely benign 4_946974_G->A 4 946974 946974 G A snp 5822.77 1/1 99 228 0 228 1.0 splicing rs2290405 TMEM175 AU NM_001297423 exon8 c.2715-3G>A 0.573482 0.5337 0.606105 0.5781 0.5301 Pathogenic 4_949893_C->A 4 949893 949893 C A snp 40.74 1/1 6 2 0 2 1.0 intronic rs28440052 TMEM175 AU NM_001297423 exon10 c.5416+215C>A 0.461062 0.5188 Uncertain 4_951791_T->C 4 951791 951791 T C snp 2327.77 0/1 99 184 92 92 0.5 exonic rs80114247 TMEM175 AU nonsynonymous SNV NM_001297424 exon9 c.T776C p.M259T 0.029353 0.0575 0.018145 0.0309 0.0427 0.01 T 1.000 D -1.035 T 0.999 D 0.994 D Pathogenic 4_954247_G->T 4 954247 954247 G T snp 66.77 0/1 95 10 7 3 0.3 UTR3 rs3733345 DGKQ AU 0.527756 0.497 Uncertain 4_954275_T->C 4 954275 954275 T C snp 227.77 0/1 99 28 18 10 0.36 UTR3 rs3733346 DGKQ AU 0.444089 0.38 Uncertain 4_954277_T->C 4 954277 954277 T C snp 934.77 1/1 69 29 0 29 1.0 UTR3 rs3733347 DGKQ AU 0.884585 0.8433 Uncertain 4_954311_C->T 4 954311 954311 C T snp 443.77 0/1 99 59 38 21 0.36 UTR3 rs3733349 DGKQ AU 0.411542 0.3433 Uncertain 4_954741_C->G 4 954741 954741 C G snp 846.77 0/1 99 69 36 33 0.48 intronic rs56039006 DGKQ AU NM_001347 exon2 c.429-95C>G 0.135583 0.2351 Uncertain 4_955628_G->A 4 955628 955628 G A snp 3125.77 0/1 99 224 97 127 0.57 splicing rs201948586 DGKQ AU NM_001347 exon4 c.1215+6G>A 0.000199681 0.001 0.0001 0.0015 Pathogenic 4_959491_A->G 4 959491 959491 A G snp 162.79 0/1 22 6 1 5 0.83 intronic rs4690325 DGKQ AU NM_001347 exon10 c.4910+174A>G 0.854433 0.8413 Uncertain 4_960081_G->A 4 960081 960081 G A snp 5892.77 1/1 99 195 0 195 1.0 intronic rs4690324 DGKQ AU NM_001347 exon12 c.5846-172G>A 0.895767 0.8423 Uncertain 4_960713_G->A 4 960713 960713 G A snp 489.77 0/1 99 47 28 19 0.4 intronic rs4690196 DGKQ AU NM_001347 exon14 c.6344-38G>A 0.341853 0.3423 0.361697 0.4543 0.4296 Uncertain 4_961191_A->G 4 961191 961191 A G snp 140.77 0/1 99 12 7 5 0.42 intronic rs1377587 DGKQ AU NM_001347 exon15 c.6742+42A>G 0.559505 0.494 0.4642 0.5376 Uncertain 4_961210_G->A 4 961210 961210 G A snp 205.77 0/1 99 13 6 7 0.54 intronic rs561930410 DGKQ AU NM_001347 exon15 c.6742+61G>A 0.000399361 0.002 Uncertain 4_961373_G->A 4 961373 961373 G A snp 2133.77 0/1 99 138 52 86 0.62 exonic rs1377586 DGKQ AU synonymous SNV NM_001347 exon8 c.C951T p.V317V 0.403954 0.3363 0.435605 0.4446 0.3563 1.000 P -0.915 T Likely benign 4_980464_A->G 4 980464 980464 A G snp 360.77 0/1 99 29 16 13 0.45 upstream;downstream rs4690220 IDUA;SLC26A1 UN 0.459465 0.3522 Uncertain 4_980971_T->G 4 980971 980971 T G snp 409.77 1/1 30 16 0 16 1.0 exonic rs10794537 IDUA AR nonsynonymous SNV NM_000203 exon1 c.T99G p.H33Q 0.891973 0.8472 0.9137 0.8615 0.7 T 0.0 P -0.973 T 0.0 T 0.0 T CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000078401.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 ID=CM139563;DIS=Mucopolysaccharidosis I;TAG=DM?;PUB=24053568 DM? Pathogenic 4_982852_G->A 4 982852 982852 G A snp 1579.77 0/1 99 126 58 68 0.54 exonic rs3796621 SLC26A1 AR synonymous SNV NM_213613 exon4 c.C1875T p.A625A 0.438099 0.372 0.433323 0.5296 0.4797 Uncertain 4_983060_T->C 4 983060 983060 T C snp 2270.77 0/1 99 199 100 99 0.5 exonic rs3796622 SLC26A1 AR nonsynonymous SNV NM_213613 exon4 c.A1667G p.Q556R 0.685703 0.629 0.650185 0.6737 0.6509 0.4 T 0.000 P -0.896 T 0.0 T 0.001 T Pathogenic 4_983421_C->T 4 983421 983421 C T snp 1133.77 0/1 99 95 44 51 0.54 exonic rs779417668 SLC26A1 AR nonsynonymous SNV NM_213613 exon4 c.G1306A p.D436N 9.192e-05 0.0011 0.05 T 1 D 0.401 D 0.961 D 0.641 D Pathogenic 4_983809_C->T 4 983809 983809 C T snp 2063.77 0/1 99 163 76 87 0.53 exonic rs4690221 SLC26A1 AR synonymous SNV NM_213613 exon4 c.G918A p.S306S 0.388978 0.3482 0.386413 0.5029 0.4802 Uncertain 4_985727_A->G 4 985727 985727 A G snp 1847.77 0/1 99 179 98 81 0.45 intronic rs3822020 IDUA AR NM_000203 exon2 c.865+3990A>G 0.687101 0.63 0.6934 0.6061 0.38 T 0.0 P -0.951 T Uncertain 4_994414_G->A 4 994414 994414 G A snp 1637.77 0/1 99 127 54 73 0.57 exonic rs3755955 IDUA AR nonsynonymous SNV NM_000203 exon3 c.G314A p.R105Q 0.16873 0.2073 0.142209 0.1642 0.2100 0.76 T 0.0 P -1.046 T 0.003 T 0.002 T CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000078391.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 ID=CM139560;DIS=Mucopolysaccharidosis I;TAG=DM?;PUB=24053568 DM? Pathogenic 4_995107_C->G 4 995107 995107 C G snp 152.77 0/1 99 10 5 5 0.5 intronic rs3733341 IDUA AR NM_000203 exon5 c.14383-148C>G 0.21865 0.2133 Uncertain 4_995305_T->C 4 995305 995305 T C snp 2533.77 0/1 99 250 138 112 0.45 exonic rs6815946 IDUA AR synonymous SNV NM_000203 exon5 c.T543C p.N181N 0.219848 0.2133 0.175304 0.1820 0.2120 1.0 P -1.059 T CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000078395.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Likely benign 4_995422_G->C 4 995422 995422 G C snp 1595.77 0/1 99 151 83 68 0.45 intronic rs6829789 IDUA AR NM_000203 exon6 c.14594-44G>C 0.21845 0.2133 0.173669 0.1917 0.2252 Uncertain 4_995459_C->G 4 995459 995459 C G snp 3675.77 ./1 99 123 0 123 1.0 intronic rs6848974 IDUA AR NM_000203 exon6 c.14594-7C>G 0.000399361 0.002 7.756e-05 0.0011 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000078396.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 4_995459_C->T 4 995459 995459 C T snp 3675.77 ./1 99 123 0 123 1.0 intronic rs6848974 IDUA AR NM_000203 exon6 c.14594-7C>T 0.21845 0.2133 0.172825 0.2001 0.2327 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000078396.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 4_995919_G->C 4 995919 995919 G C snp 3222.65 0/1 99 241 108 133 0.55 exonic rs6830825 IDUA AR synonymous SNV NM_000203 exon7 c.G942C p.A314A 0.21865 0.2133 0.155351 0.2560 0.2719 0.42 T 0.000 P -0.902 T 0.0 T 0.0 T CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000078400.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Likely benign 4_995997_A->G 4 995997 995997 A G snp 2458.77 0/1 99 190 96 94 0.49 intronic rs6811373 IDUA AR NM_000203 exon7 c.15077+48A>G 0.221645 0.2133 0.145269 0.2914 0.3300 0.0 P -1.059 T 0.0 T 0.0 T Uncertain 4_996012_G->C 4 996012 996012 G C snp 2330.77 0/1 99 189 100 89 0.47 intronic rs6831021 IDUA AR NM_000203 exon8 c.15184-44G>C 0.221446 0.2133 0.154685 0.3003 0.3543 0.0 P -1.056 T 0.0 T 0.001 T Uncertain 4_996115_C->G 4 996115 996115 C G snp 2945.77 0/1 99 250 125 125 0.5 exonic rs202191662 IDUA AR nonsynonymous SNV NM_000203 exon8 c.C1031G p.A344G 0.000599042 0.003 0.0003 0.0042 0.38 T 1 N -0.136 T 0.653 T 0.385 P Pathogenic 4_996165_G->A 4 996165 996165 G A snp 2875.77 0/1 99 241 111 130 0.54 exonic rs6831280 IDUA AR nonsynonymous SNV NM_000203 exon8 c.G1081A p.A361T 0.217652 0.2133 0.172467 0.2056 0.2383 0.93 T 0.001 P -0.879 T 0.019 T 0.004 T CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000078371.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 ID=CM146931;DIS=Scheie syndrome;TAG=DM?;PUB=24875751 DM? Pathogenic 4_996248_G->C 4 996248 996248 G C snp 1263.77 0/1 99 100 49 51 0.51 exonic rs6836258 IDUA AR synonymous SNV NM_000203 exon8 c.G1164C p.T388T 0.21865 0.2133 0.147856 0.2633 0.2889 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000078372.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 4_996501_-->C 4 996501 996501 - C indel 281.73 0/1 99 21 8 13 0.62 intronic rs150523349 IDUA AR NM_000203 exon9 c.15647-18insC 0.212859 0.2103 0.2216 0.1429 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000078373.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 4_996560_C->G 4 996560 996560 C G snp 586.77 0/1 99 42 19 23 0.55 exonic rs115790973 IDUA AR synonymous SNV NM_000203 exon9 c.C1230G p.T410T 0.217851 0.2133 0.2684 0.2308 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000078376.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 4_996690_G->A 4 996690 996690 G A snp 988.77 0/1 99 83 43 40 0.48 exonic rs73066479 IDUA AR nonsynonymous SNV NM_000203 exon9 c.G1360A p.V454I 0.21865 0.2133 0.3414 0.3182 0.48 T 0.0 P -1.069 T 0.007 T 0.009 T CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000078378.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 4_996768_T->C 4 996768 996768 T C snp 1127.77 0/1 99 94 44 50 0.53 intronic rs115134980 IDUA AR NM_000203 exon9 c.15860+36T>C 0.21885 0.2133 0.121916 0.4151 0.4038 Uncertain 4_996888_C->T 4 996888 996888 C T snp 722.77 0/1 99 71 40 31 0.44 exonic rs115929690 IDUA AR synonymous SNV NM_000203 exon10 c.C1467T p.R489R 0.218251 0.2133 0.149383 0.2654 0.3013 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000078380.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 4_996986_G->T 4 996986 996986 G T snp 97.77 0/1 99 9 4 5 0.56 intronic rs188458034 IDUA AR NM_000203 exon10 c.16073+41G>T 0.186102 0.2054 0.3194 0.5 Uncertain 4_997485_T->G 4 997485 997485 T G snp 1896.77 0/1 99 162 76 86 0.53 intronic rs2305488 IDUA AR NM_000203 exon12 c.16541+72T>G 0.220847 0.2133 Uncertain 4_1006333_G->A 4 1006333 1006333 G A snp 1341.77 0/1 99 111 48 63 0.57 exonic rs4647942 FGFRL1 AU synonymous SNV NM_001004356 exon2 c.G60A p.P20P 0.509385 0.4583 0.599733 0.5170 0.5886 Uncertain 4_1016279_G->A 4 1016279 1016279 G A snp 1124.77 0/1 99 72 29 43 0.6 intronic rs4647934 FGFRL1 AU NM_021923 exon2 c.9990+16G>A 0.132388 0.1687 0.124865 0.1494 0.1698 Uncertain 4_1050437_C->G 4 1050437 1050437 C G snp 101.28 1/1 9 4 0 4 1.0 intergenic rs7680608 FGFRL1 AU 0.973642 1 Uncertain 4_1050653_G->A 4 1050653 1050653 G A snp 378.77 0/1 99 44 29 15 0.34 intergenic rs3816474 FGFRL1 AU 0.835264 0.7421 Uncertain 4_1050849_G->A 4 1050849 1050849 G A snp 822.77 0/1 99 58 26 32 0.55 intergenic rs10003009 FGFRL1 AU 0.774161 0.6498 Uncertain 4_1050850_T->C 4 1050850 1050850 T C snp 826.77 0/1 99 58 26 32 0.55 intergenic rs9995279 FGFRL1 AU 0.774161 0.6498 Uncertain 4_1050909_A->T 4 1050909 1050909 A T snp 336.77 0/1 99 25 13 12 0.48 intergenic rs9992925 FGFRL1 AU 0.773363 0.6488 Uncertain 4_1052078_A->T 4 1052078 1052078 A T snp 555.77 0/1 99 39 16 23 0.59 intergenic rs2290410 FGFRL1 AU 0.760982 0.5843 Uncertain 4_1052095_-->G 4 1052095 1052095 - G indel 723.73 0/1 99 47 19 28 0.6 intergenic rs141837552 FGFRL1 AU 0.0786741 0.1369 Uncertain 4_1052125_T->C 4 1052125 1052125 T C snp 832.77 0/1 99 70 33 37 0.53 intergenic rs11724371 FGFRL1 AU 0.78115 0.6736 Uncertain 4_1052166_A->C 4 1052166 1052166 A C snp 1013.77 0/1 99 87 44 43 0.49 intergenic rs2248083 FGFRL1 AU 0.776757 0.6696 Uncertain 4_1052206_T->C 4 1052206 1052206 T C snp 960.77 0/1 99 87 46 41 0.47 intergenic rs2045069 FGFRL1 AU 0.774161 0.6508 Uncertain 4_1052212_G->A 4 1052212 1052212 G A snp 806.77 0/1 99 79 45 34 0.43 intergenic rs2045068 FGFRL1 AU 0.774361 0.6508 Uncertain 4_1052230_C->T 4 1052230 1052230 C T snp 773.77 0/1 99 75 41 34 0.45 intergenic rs77924371 FGFRL1 AU 0.0517173 0.1498 Uncertain 4_1052355_C->T 4 1052355 1052355 C T snp 107.77 0/1 99 12 8 4 0.33 intergenic rs2045067 FGFRL1 AU 0.773562 0.6468 Uncertain 4_1066851_G->A 4 1066851 1066851 G A snp 1233.77 0/1 99 119 67 52 0.44 exonic rs566857053 RNF212 AU nonsynonymous SNV NM_194439 exon10 c.C652T p.P218S 0.000199681 4.118e-05 0.0001 0 D 1.000 N -1.052 T 0.379 T 0.031 T Pathogenic 4_1067249_T->C 4 1067249 1067249 T C snp 100.77 0/1 66 6 2 4 0.67 intronic rs2290409 RNF212 AU NM_001131034 exon2 c.725-137T>C 0.524361 0.6438 Uncertain 4_1067267_G->T 4 1067267 1067267 G T snp 137.77 0/1 99 10 5 5 0.5 intronic rs2290408 RNF212 AU NM_001131034 exon2 c.725-119G>T 0.776158 0.6498 Uncertain 4_1067638_T->G 4 1067638 1067638 T G snp 438.77 0/1 99 44 27 17 0.39 intronic rs6852155 RNF212 AU NM_001131034 exon2 c.789+188T>G 0.769768 0.6339 Uncertain 4_1075271_C->T 4 1075271 1075271 C T snp 974.77 0/1 99 111 65 46 0.41 intronic rs2290407 RNF212 AU NM_001131034 exon4 c.8594+16C>T 0.167332 0.3284 0.119637 0.1496 0.3027 Uncertain 4_1084723_G->C 4 1084723 1084723 G C snp 257.77 0/1 99 31 18 13 0.42 intronic rs658846 RNF212 AU NM_001131034 exon7 c.17965+97G>C 0.83766 0.744 Uncertain 4_1087168_-->AT 4 1087168 1087168 - AT indel 1010.73 0/1 99 71 45 26 0.37 UTR3 rs397729926 RNF212 AU 0.725839 0.6498 Uncertain 4_1087171_G->T 4 1087171 1087171 G T snp 706.77 0/1 99 76 46 30 0.39 UTR3 rs59985183 RNF212 AU 0.725839 0.6498 Uncertain 4_1087265_T->C 4 1087265 1087265 T C snp 1618.77 0/1 99 203 127 76 0.37 exonic rs1670534 RNF212 AU nonsynonymous SNV NM_001193318 exon4 c.A784G p.I262V 0.775759 0.6488 0.7497 0.6149 1 T 0.0 P -0.917 T Pathogenic 4_1087329_C->T 4 1087329 1087329 C T snp 560.77 0/1 99 135 110 25 0.19 exonic rs118112880 RNF212 AU synonymous SNV NM_001193318 exon4 c.G720A p.R240R 0.773562 0.6488 0.7804 0.655 Uncertain 4_1087338_C->T 4 1087338 1087338 C T snp 1203.77 0/1 99 156 104 52 0.33 exonic rs11725984 RNF212 AU synonymous SNV NM_001193318 exon4 c.G711A p.G237G 0.773562 0.6488 0.7836 0.655 Uncertain 4_1090625_G->A 4 1090625 1090625 G A snp 1855.77 0/1 99 150 73 77 0.51 exonic rs4045481 RNF212 AU synonymous SNV NM_001131034 exon3 c.C174T p.T58T 0.546725 0.6498 0.570429 0.6353 0.6091 Uncertain 4_1102050_C->T 4 1102050 1102050 C T snp 890.77 1/1 63 37 0 37 1.0 intronic rs4974644 RNF212 AU NM_001193318 exon3 c.14904-80C>T 0.821685 1 Uncertain 4_1164277_C->G 4 1164277 1164277 C G snp 844.77 0/1 99 96 63 33 0.34 exonic rs2279279 SPON2 AU nonsynonymous SNV NM_012445 exon5 c.G724C p.V242L 0.553315 0.6766 0.538905 0.6396 0.7079 0.46 T 0.933 P -1.010 T 0.27 T 0.071 T Pathogenic 4_1164552_A->G 4 1164552 1164552 A G snp 4851.77 1/1 99 165 0 165 1.0 intronic rs13115935 SPON2 AU NM_001199021 exon2 c.3105+188A>G 0.939297 1 0.9792 1 Uncertain 4_1165130_G->T 4 1165130 1165130 G T snp 949.77 0/1 99 79 37 42 0.53 exonic rs11247975 SPON2 AU nonsynonymous SNV NM_012445 exon3 c.C365A p.A122E 0.554513 0.6756 0.560903 0.6624 0.7186 0.91 T 0.002 P -1.020 T 0.009 T 0.019 T Pathogenic 4_1165516_G->A 4 1165516 1165516 G A snp 110.77 0/1 99 11 6 5 0.45 intronic rs2242278 SPON2 AU NM_001199021 exon5 c.4380-123G>A 0.198882 0.2639 Uncertain 4_1165587_C->G 4 1165587 1165587 C G snp 660.77 0/1 99 52 29 23 0.44 intronic rs2242279 SPON2 AU NM_001199021 exon5 c.4380-52C>G 0.199481 0.2659 Uncertain 4_1165741_A->G 4 1165741 1165741 A G snp 4170.77 1/1 99 158 0 158 1.0 exonic rs922697 SPON2 AU nonsynonymous SNV NM_012445 exon2 c.T119C p.L40P 0.948283 1 0.956478 0.9866 0.9999 0.14 T 0.128 P -1.034 T 0.053 T 0.058 T Pathogenic 4_1165764_C->T 4 1165764 1165764 C T snp 1417.77 0/1 99 136 70 66 0.49 exonic rs11538062 SPON2 AU synonymous SNV NM_012445 exon2 c.G96A p.E32E 0.134585 0.1815 0.125850 0.1316 0.1713 Uncertain 4_1194594_A->T 4 1194594 1194594 A T snp 2508.77 0/1 99 244 134 110 0.45 ncRNA_intronic rs13115903 LOC100130872 AU 0.269968 0.2232 0.2673 0.195 0 D 0.000 P -1.004 T 0.0 T 0.0 T Uncertain 4_1194630_T->C 4 1194630 1194630 T C snp 7278.77 1/1 99 249 0 249 1.0 ncRNA_intronic rs56401136 LOC100130872 AU 0.424321 0.5833 0.3738 0.5455 0 D 0.000 P -0.898 T 0.0 T 0.0 T Uncertain 4_1207517_T->C 4 1207517 1207517 T C snp 261.8 1/1 21 7 0 7 1.0 ncRNA_intronic rs11247979 CTBP1-AS AU 0.770367 0.8135 Uncertain 4_1215585_T->C 4 1215585 1215585 T C snp 1528.77 0/1 99 136 73 63 0.46 intronic rs1250088 CTBP1 AU NM_001012614 exon6 c.13120-3562T>C 0.204473 0.253 0.2936 0.2609 Uncertain 4_1217056_G->A 4 1217056 1217056 G A snp 1092.77 1/1 87 31 0 31 1.0 intronic rs2004531 CTBP1 AU NM_001012614 exon6 c.13120-2091G>A 0.75619 0.8155 Uncertain 4_1222302_G->A 4 1222302 1222302 G A snp 222.77 0/1 99 12 5 7 0.58 intronic rs900020 CTBP1 AU NM_001012614 exon7 c.16104+171G>A 0.627796 0.6131 Uncertain 4_1232202_T->C 4 1232202 1232202 T C snp 721.77 0/1 99 71 43 28 0.39 intronic rs73793154 CTBP1 AU NM_001012614 exon8 c.26098+77T>C 0.0924521 0.2004 Uncertain 4_1243329_C->G 4 1243329 1243329 C G snp 154.77 0/1 99 10 4 6 0.6 ncRNA_intronic rs79746330 CTBP1-AS2 AU 0.229633 0.255 Uncertain 4_1243404_C->T 4 1243404 1243404 C T snp 468.77 0/1 99 32 10 22 0.69 ncRNA_intronic rs1680033 CTBP1-AS2 AU 0.229633 0.255 0.3670 0.2698 Uncertain 4_1243573_T->C 4 1243573 1243573 T C snp 2050.77 1/1 99 85 0 85 1.0 ncRNA_intronic rs1680032 CTBP1-AS2 AU 0.820288 0.9722 Uncertain 4_1243617_T->C 4 1243617 1243617 T C snp 901.77 0/1 99 71 32 39 0.55 ncRNA_intronic rs3755920 CTBP1-AS2 AU 0.575479 0.7173 Uncertain 4_1244416_A->G 4 1244416 1244416 A G snp 1765.77 1/1 99 59 0 59 1.0 ncRNA_exonic rs1732115 CTBP1-AS2 AU 0.819089 0.9722 0.774992 0.8813 0.9701 0 D 1.000 P -1.012 T 0.0 T 0.0 T Uncertain 4_1244879_A->G 4 1244879 1244879 A G snp 2840.77 0/1 99 248 130 118 0.48 ncRNA_exonic rs1564508 CTBP1-AS2 AU 0.40016 0.4087 0.405044 0.4466 0.3738 0 D 0.999 P -0.942 T 0.0 T 0.0 T Uncertain 4_1283608_G->T 4 1283608 1283608 G T snp 679.77 0/1 99 45 16 29 0.64 upstream rs17164589 MAEA AU 0.190495 0.4226 Uncertain 4_1291640_T->C 4 1291640 1291640 T C snp 411.77 0/1 99 50 34 16 0.32 intronic rs2293633 MAEA AU NM_001017405 exon1 c.69+7870T>C 0.541733 0.5258 Uncertain 4_1291711_T->G 4 1291711 1291711 T G snp 1023.77 0/1 99 126 79 47 0.37 intronic rs2293634 MAEA AU NM_001017405 exon1 c.69+7941T>G 0.640176 0.7113 0.5846 0.6644 Uncertain 4_1291969_C->T 4 1291969 1291969 C T snp 662.77 0/1 99 49 27 22 0.45 intronic rs11723894 MAEA AU NM_001017405 exon1 c.69+8199C>T 0.26897 0.4226 Uncertain 4_1291970_C->T 4 1291970 1291970 C T snp 636.77 0/1 99 48 26 22 0.46 intronic rs11723920 MAEA AU NM_001017405 exon1 c.69+8200C>T 0.190695 0.4236 Uncertain 4_1292014_T->C 4 1292014 1292014 T C snp 251.77 0/1 99 20 11 9 0.45 intronic rs11729031 MAEA AU NM_001017405 exon1 c.69+8244T>C 0.26857 0.4226 Uncertain 4_1292023_T->G 4 1292023 1292023 T G snp 130.77 0/1 99 16 10 6 0.38 intronic rs11729033 MAEA AU NM_001017405 exon1 c.69+8253T>G 0.26857 0.4226 Uncertain 4_1309416_C->T 4 1309416 1309416 C T snp 1123.77 0/1 99 94 49 45 0.48 intronic rs2272481 MAEA AU NM_001017405 exon3 c.25687+28C>T 0.195288 0.4246 0.062269 0.1192 0.4267 Uncertain 4_1317192_C->T 4 1317192 1317192 C T snp 32.77 0/1 61 7 5 2 0.29 intronic rs2141656 MAEA AU NM_001017405 exon4 c.32590+901C>T 0.616813 0.5546 Uncertain 4_1321578_CCTGGGACGTCC->- 4 1321578 1321589 CCTGGGACGTCC - indel 1917.73 0/1 99 55 33 22 0.4 intronic rs140065352 MAEA AU NM_001017405 exon5 c.37790+87_37790+98delCCTGGGACGTCC 0.249002 0.4266 Uncertain 4_1326379_T->C 4 1326379 1326379 T C snp 213.77 0/1 99 17 10 7 0.41 intronic rs117411459 MAEA AU NM_001017405 exon6 c.42843-165T>C 0.00219649 0.0109 Uncertain 4_1326415_C->T 4 1326415 1326415 C T snp 560.77 0/1 99 45 25 20 0.44 intronic MAEA AU NM_001017405 exon6 c.42843-129C>T Uncertain 4_1326743_G->C 4 1326743 1326743 G C snp 189.77 0/1 99 13 6 7 0.54 intronic rs4974600 MAEA AU NM_001017405 exon6 c.42952+90G>C 0.225839 0.4028 Uncertain 4_1330759_T->C 4 1330759 1330759 T C snp 3166.77 0/1 99 250 121 129 0.52 exonic rs1128427 MAEA AU nonsynonymous SNV NM_001297431 exon5 c.T676C p.W226R 0.613219 0.5317 0.624250 0.5770 0.5215 0.05 T 1.000 P -0.970 T 0.0 T 0.001 T Pathogenic 4_1330881_C->T 4 1330881 1330881 C T snp 601.77 0/1 99 61 39 22 0.36 intronic MAEA AU NM_001017405 exon7 c.47081+99C>T Uncertain 4_1332175_A->G 4 1332175 1332175 A G snp 608.77 0/1 99 40 20 20 0.5 intronic rs13147602 MAEA AU NM_001017405 exon8 c.48508-34A>G 0.725639 0.747 0.673702 0.6318 0.7247 Uncertain 4_1343405_T->C 4 1343405 1343405 T C snp 2649.77 0/1 99 240 122 118 0.49 exonic rs2276903 UVSSA AR synonymous SNV NM_020894 exon3 c.T192C p.I64I 0.632987 0.5317 0.638321 0.5806 0.5114 Uncertain 4_1345398_C->T 4 1345398 1345398 C T snp 146.77 0/1 99 14 9 5 0.36 intronic rs75599043 UVSSA AR NM_020894 exon4 c.3623-104C>T 0.276158 0.4286 Uncertain 4_1346796_A->G 4 1346796 1346796 A G snp 2153.77 0/1 99 166 78 88 0.53 intronic rs17164682 UVSSA AR NM_020894 exon5 c.4938-21A>G 0.232029 0.4315 0.080031 0.1305 0.4234 Uncertain 4_1349029_G->A 4 1349029 1349029 G A snp 1579.77 0/1 99 145 77 68 0.47 exonic rs2276904 UVSSA AR nonsynonymous SNV NM_020894 exon7 c.G1172A p.R391H 0.240415 0.4246 0.105790 0.1437 0.4352 0.08 T 0.0 P -0.981 T 0.011 T 0.001 T Pathogenic 4_1369025_C->G 4 1369025 1369025 C G snp 523.77 0/1 99 26 10 16 0.62 intronic rs73793392 UVSSA AR NM_020894 exon9 c.27272-126C>G 0.238419 0.4425 Uncertain 4_1369093_C->G 4 1369093 1369093 C G snp 1241.77 0/1 99 82 38 44 0.54 intronic rs11941200 UVSSA AR NM_020894 exon9 c.27272-58C>G 0.780152 0.7202 Uncertain 4_1369094_T->G 4 1369094 1369094 T G snp 1250.77 0/1 99 82 38 44 0.54 intronic rs11946956 UVSSA AR NM_020894 exon9 c.27272-57T>G 0.780152 0.7202 Uncertain 4_1373663_C->T 4 1373663 1373663 C T snp 40.77 0/1 33 3 1 2 0.67 intronic rs4974618 UVSSA AR NM_020894 exon11 c.31955-171C>T 0.698083 0.6964 Uncertain 4_1373701_C->G 4 1373701 1373701 C G snp 34.77 0/1 63 7 5 2 0.29 intronic rs56108910 UVSSA AR NM_020894 exon11 c.31955-133C>G 0.695687 0.6984 Uncertain 4_1374695_C->A 4 1374695 1374695 C A snp 2690.77 0/1 99 219 115 104 0.47 exonic rs28614045 UVSSA AR synonymous SNV NM_020894 exon12 c.C1780A p.R594R 0.70028 0.7004 0.691018 0.6940 0.6866 Uncertain 4_1374774_C->T 4 1374774 1374774 C T snp 1044.77 0/1 99 86 40 46 0.53 exonic rs28522910 UVSSA AR nonsynonymous SNV NM_020894 exon12 c.C1859T p.P620L 0.696486 0.6984 0.690674 0.6946 0.6888 0.01 T 0.998 P -1.015 T 0.67 T 0.035 P Pathogenic 4_1374789_A->G 4 1374789 1374789 A G snp 951.77 0/1 99 74 33 41 0.55 intronic rs28733902 UVSSA AR NM_020894 exon12 c.32897+13A>G 0.763578 0.7004 0.752965 0.7161 0.6920 Uncertain 4_1377615_A->G 4 1377615 1377615 A G snp 1555.77 0/1 99 134 64 70 0.52 exonic rs9996817 UVSSA AR synonymous SNV NM_020894 exon13 c.A1923G p.S641S 0.717252 0.7113 0.720514 0.7195 0.6932 Uncertain 4_1377873_A->G 4 1377873 1377873 A G snp 54.74 1/1 6 2 0 2 1.0 intronic rs9683830 UVSSA AR NM_020894 exon13 c.35849+145A>G 0.769369 0.7222 Uncertain 4_1388583_A->G 4 1388583 1388583 A G snp 2504.77 0/1 99 171 61 110 0.64 exonic rs9328733 CRIPAK AU nonsynonymous SNV NM_175918 exon1 c.A284G p.H95R 0.771965 0.7083 0.762264 0.7036 0.6934 0.15 T 0.0 P -1.085 T 0.002 T 0.0 T Pathogenic 4_1388662_G->C 4 1388662 1388662 G C snp 1248.77 0/1 99 82 32 50 0.61 exonic rs9762106 CRIPAK AU synonymous SNV NM_175918 exon1 c.G363C p.P121P 0.0207668 0.0238 0.005459 0.0048 0.0093 0.3 T 1 N -1.052 T Likely benign 4_1388666_C->T 4 1388666 1388666 C T snp 73.77 0/1 99 77 68 9 0.12 exonic rs9760377 CRIPAK AU nonsynonymous SNV NM_175918 exon1 c.C367T p.R123W 0.0259585 0.0288 0.0015 0.0033 1 T 1 N -1.021 T 0.0 T 0.0 T Pathogenic 4_1389156_T->C 4 1389156 1389156 T C snp 338.77 0/1 99 31 14 17 0.55 exonic rs71614972 CRIPAK AU nonsynonymous SNV NM_175918 exon1 c.T857C p.M286T 0.758586 0.7014 0.7076 0.6895 0.35 T 0.0 P -0.968 T 0.006 T 0.002 T Pathogenic 4_1397297_T->G 4 1397297 1397297 T G snp 493.77 0/1 99 34 14 20 0.59 exonic rs11945310 NKX1-1 AU nonsynonymous SNV NM_001290079 exon2 c.A770C p.Q257P 0.725839 0.7034 0.7343 0.5714 0.98 T -0.937 T Pathogenic 4_1397650_C->T 4 1397650 1397650 C T snp 506.77 0/1 99 32 11 21 0.66 intronic NKX1-1 AU NM_001290079 exon1 c.884+47C>T Uncertain 4_1400172_T->C 4 1400172 1400172 T C snp 131.03 1/1 12 5 0 5 1.0 exonic rs72613115 NKX1-1 AU nonsynonymous SNV NM_001290079 exon1 c.A59G p.Q20R 0.717851 0.6994 Pathogenic 4_1619865_T->C 4 1619865 1619865 T C snp 717.77 0/1 99 60 27 33 0.55 intergenic rs11722375 NKX1-1 AU 0.709465 0.5188 0.6147 0.3657 Uncertain 4_1619967_T->G 4 1619967 1619967 T G snp 193.77 0/1 99 16 8 8 0.5 intergenic NKX1-1 AU Uncertain 4_1659128_T->C 4 1659128 1659128 T C snp 613.77 0/1 99 79 52 27 0.34 intronic rs2895461 FAM53A AU NM_001013622 exon3 c.16115-6T>C 0.636981 0.3284 0.689451 0.6159 0.3456 Uncertain 4_1698183_C->T 4 1698183 1698183 C T snp 711.77 1/1 54 20 0 20 1.0 intronic rs798719 SLBP AU NM_006527 exon3 c.2755+105C>T 0.738219 0.8522 Uncertain 4_1701317_G->A 4 1701317 1701317 G A snp 6962.77 1/1 99 250 0 250 1.0 exonic rs2247341 SLBP AU synonymous SNV NM_006527 exon5 c.C453T p.Y151Y 0.389577 0.6935 0.288175 0.3847 0.6947 1.0 P -1.065 T Likely benign 4_1714161_T->C 4 1714161 1714161 T C snp 229.84 1/1 18 8 0 8 1.0 upstream rs812821 SLBP AU 0.707668 0.8532 Uncertain 4_1718883_A->T 4 1718883 1718883 A T snp 613.77 1/1 45 20 0 20 1.0 UTR3 rs2236787 TMEM129 AU 0.386781 0.6935 0.4136 0.8026 Uncertain 4_1719572_A->G 4 1719572 1719572 A G snp 662.77 1/1 51 20 0 20 1.0 intronic rs798751 TMEM129 AU NM_001127266 exon2 c.496+170A>G 0.696086 0.8532 Uncertain 4_1720757_A->G 4 1720757 1720757 A G snp 470.77 1/1 36 13 0 13 1.0 intronic rs798754 TMEM129 AU NM_001127266 exon3 c.1447+404A>G 0.671526 0.8532 Uncertain 4_1720793_-->G 4 1720793 1720793 - G indel 1139.73 1/1 87 29 0 29 1.0 intronic rs148117097 TMEM129 AU NM_001127266 exon3 c.1447+440insG 0.4204 0.7143 Uncertain 4_1720794_T->G 4 1720794 1720794 T G snp 950.77 1/1 69 30 0 30 1.0 intronic rs61675353 TMEM129 AU NM_001127266 exon3 c.1447+441T>G 0.38738 0.6935 0.4209 0.7083 Uncertain 4_1720824_A->G 4 1720824 1720824 A G snp 1691.77 1/1 99 56 0 56 1.0 intronic rs798755 TMEM129 AU NM_001127266 exon3 c.1447+471A>G 0.672923 0.8532 0.7636 0.835 Uncertain 4_1725651_T->C 4 1725651 1725651 T C snp 1117.77 1/1 81 35 0 35 1.0 intronic rs3099555 TACC3 AU NM_006342 exon3 c.449+54T>C 0.700479 0.8532 Uncertain 4_1737108_C->T 4 1737108 1737108 C T snp 2636.77 1/1 99 94 0 94 1.0 intronic rs3752747 TACC3 AU NM_006342 exon7 c.11904+56C>T 0.389776 0.6935 0.296321 Uncertain 4_1737262_T->C 4 1737262 1737262 T C snp 220.84 1/1 18 6 0 6 1.0 intronic rs3752749 TACC3 AU NM_006342 exon8 c.12309-195T>C 0.76238 0.8532 Uncertain 4_1737404_-->CT 4 1737404 1737404 - CT indel 6959.73 1/1 99 135 0 135 1.0 intronic rs34859791 TACC3 AU NM_006342 exon8 c.12309-53insCT 0.700479 0.8532 Uncertain 4_1737502_C->T 4 1737502 1737502 C T snp 3853.77 1/1 99 145 0 145 1.0 exonic rs11248073 TACC3 AU synonymous SNV NM_006342 exon8 c.C1689T p.F563F 0.390176 0.6935 0.292942 0.3891 0.6978 1.000 P Uncertain 4_1737585_T->C 4 1737585 1737585 T C snp 1451.77 1/1 99 44 0 44 1.0 intronic rs11729657 TACC3 AU NM_006342 exon8 c.12413+24T>C 0.700679 0.8532 0.714703 0.7650 0.8700 Uncertain 4_1739519_GCCATCCCT->- 4 1739519 1739527 GCCATCCCT - indel 14863.7 1/1 99 178 0 178 1.0 intronic rs140693140 TACC3 AU NM_006342 exon10 c.14281+90_14281+98delGCCATCCCT 0.383986 0.6925 0.3964 0.7143 Uncertain 4_1739592_A->G 4 1739592 1739592 A G snp 3490.77 1/1 99 123 0 123 1.0 intronic rs2305188 TACC3 AU NM_006342 exon10 c.14281+163A>G 0.695088 0.8512 0.7697 0.8513 Uncertain 4_1741535_GTCCCCATCCCCCTCGCCATCCTT->- 4 1741535 1741558 GTCCCCATCCCCCTCGCCATCCTT - indel 3116.73 0/1 99 66 10 56 0.85 intronic rs748991578 TACC3 AU NM_006342 exon11 c.16357+30_16357+53delGTCCCCATCCCCCTCGCCATCCTT 0.0054 0.0359 Uncertain 4_1742400_T->C 4 1742400 1742400 T C snp 210.84 1/1 18 6 0 6 1.0 intronic rs4865463 TACC3 AU NM_006342 exon13 c.17404-152T>C 0.698083 0.8532 Uncertain 4_1742779_G->A 4 1742779 1742779 G A snp 581.77 1/1 45 17 0 17 1.0 intronic rs1530588 TACC3 AU NM_006342 exon13 c.17565+66G>A 0.38738 0.6925 Uncertain 4_1746125_-->T 4 1746125 1746125 - T indel 174.87 1/1 15 5 0 5 1.0 intronic rs34848704 TACC3 AU NM_006342 exon14 c.21096-119insT 0.388578 0.6954 Uncertain 4_1746229_G->T 4 1746229 1746229 G T snp 2485.77 1/1 99 90 0 90 1.0 intronic rs2290011 TACC3 AU NM_006342 exon14 c.21096-15G>T 0.387979 0.6954 0.291173 0.3881 0.6965 Uncertain 4_1746844_A->T 4 1746844 1746844 A T snp 1712.77 1/1 99 54 0 54 1.0 UTR3 rs8389 TACC3 AU 0.673522 0.8532 Uncertain 4_1795321_C->A 4 1795321 1795321 C A snp 53.74 1/1 6 3 0 3 1.0 intronic rs4450996 FGFR3 AU,AD,AR 0.601637 0.8958 Uncertain 4_1805296_G->A 4 1805296 1805296 G A snp 380.77 1/1 30 11 0 11 1.0 intronic rs3135883 FGFR3 AU,AD,AR NM_000142 exon8 c.9757-122G>A 0.92492 1 Uncertain 4_1806522_C->T 4 1806522 1806522 C T snp 316.77 0/1 99 38 23 15 0.39 intronic rs75514890 FGFR3 AU,AD,AR NM_001163213 exon10 c.10889-28C>T 0.00159744 0.0079 0.0002 0.0049 Uncertain 4_1806834_G->C 4 1806834 1806834 G C snp 185.9 1/1 15 8 0 8 1.0 intronic rs4865476 FGFR3 AU,AD,AR NM_001163213 exon10 c.11035+138G>C 0.961861 1 Uncertain 4_1807167_G->A 4 1807167 1807167 G A snp 1538.77 0/1 99 118 58 60 0.51 exonic rs751635116 FGFR3 AU,AD,AR nonsynonymous SNV NM_000142 exon11 c.G1498A p.A500T 4.323e-05 0.0004 0.12 T 0.569 D -0.600 T 0.491 P 0.02 P ID=COSM88800;OCCURENCE=1(pancreas) Pathogenic 4_1807894_G->A 4 1807894 1807894 G A snp 7018.77 1/1 99 249 0 249 1.0 exonic rs7688609 FGFR3 AU,AD,AR synonymous SNV NM_000142 exon14 c.G1953A p.T651T 0.95607 1 0.955084 0.9873 1 Uncertain 4_1809128_GT->- 4 1809128 1809129 GT - indel 864.73 1/1 72 28 0 28 1.0 UTR3 rs34562534 FGFR3 AU,AD,AR 0.6816 0.7128 Uncertain 4_1818594_C->T 4 1818594 1818594 C T snp 3997.77 1/1 99 153 0 153 1.0 exonic rs9328763 LETM1 AU synonymous SNV NM_012318 exon12 c.G1791A p.K597K 0.960663 1 0.960249 0.9888 1 Uncertain 4_1844831_G->A 4 1844831 1844831 G A snp 1886.77 0/1 99 141 72 69 0.49 intronic rs4865437 LETM1 AU NM_012318 exon12 c.27374+1307G>A 0.0115815 0.0198 Uncertain 4_1932537_A->C 4 1932537 1932537 A C snp 224.77 0/1 99 19 10 9 0.47 intronic rs78158789 WHSC1 AU NM_133330 exon8 c.30116+40A>C 0.00159744 0.0079 0.0005 0.0073 Uncertain 4_1954945_A->G 4 1954945 1954945 A G snp 7089.77 1/1 99 239 1 238 1.0 intronic rs489550 WHSC1 AU NM_133330 exon14 c.52669-105A>G 0.996406 1 0.9991 1 1 T 0.0 P -0.937 T 0.0 T 0.0 T Uncertain 4_1961137_G->A 4 1961137 1961137 G A snp 2441.77 1/1 99 81 0 81 1.0 intronic rs474235 WHSC1 AU NM_133330 exon19 c.58816-60G>A 0.685304 0.9851 Uncertain 4_1985257_G->A 4 1985257 1985257 G A snp 2032.77 0/1 99 204 116 88 0.43 intronic rs553148 NELFA AU NM_005663 exon1 c.185+27G>A 0.238419 0.2619 0.252345 0.1992 0.2415 Uncertain 4_1986542_C->T 4 1986542 1986542 C T snp 892.77 0/1 99 82 43 39 0.48 exonic rs2234570 NELFA AU synonymous SNV NM_005663 exon8 c.G1062A p.T354T 0.258786 0.5952 0.126007 0.2808 0.6402 1.000 P -1.011 T Likely benign 4_1988188_-->CT 4 1988188 1988188 - CT indel 2349.73 0/1 99 76 24 52 0.68 ncRNA_exonic rs3034718 MIR943 AU 0.276558 0.2778 0.285920 0.2420 0.2800 Uncertain 4_1988193_T->C 4 1988193 1988193 T C snp 1159.77 0/1 99 70 22 48 0.69 ncRNA_exonic rs1077020 MIR943 AU 0.250399 0.2639 0.248540 0.2356 0.2687 Uncertain 4_1988257_A->G 4 1988257 1988257 A G snp 381.77 0/1 99 23 9 14 0.61 intronic rs572770 NELFA AU NM_005663 exon7 c.3084+128A>G 0.239816 0.3194 Uncertain 4_1994102_G->A 4 1994102 1994102 G A snp 1789.77 0/1 99 126 52 74 0.59 intronic rs1116585 NELFA AU NM_005663 exon10 c.8397+660G>A 0.220447 0.3363 0.2920 0.2812 Uncertain 4_2009095_C->T 4 2009095 2009095 C T snp 908.77 0/1 99 71 35 36 0.51 intronic rs382441 NELFA AU NM_005663 exon11 c.25431-1381C>T 0.247804 0.3353 Uncertain 4_2010831_G->C 4 2010831 2010831 G C snp 316.77 0/1 99 21 8 13 0.62 UTR5 rs231189 NELFA AU 0.308906 0.3532 Uncertain 4_2044128_C->T 4 2044128 2044128 C T snp 322.78 1/1 24 13 0 13 1.0 exonic rs570712 C4orf48 AU nonsynonymous SNV NM_001141936 exon2 c.C50T p.P17L 0.992812 1 0.8515 0.8333 1 T 0.0 P -0.980 T 0.001 T 0.0 T Pathogenic 4_2065373_T->G 4 2065373 2065373 T G snp 113.77 0/1 99 11 6 5 0.45 intronic rs454226 NAT8L AU NM_178557 exon3 c.4248-113T>G 0.716054 0.7044 Uncertain 4_2065946_A->C 4 2065946 2065946 A C snp 96.28 1/1 9 3 0 3 1.0 UTR3 rs11248082 NAT8L AU 0.815096 0.7659 Uncertain 4_2073901_A->- 4 2073901 2073901 A - indel 3884.73 0/1 99 203 99 104 0.51 exonic rs3833631 POLN AU frameshift deletion NM_181808 exon26 c.2643delT p.P881fs 0.000998403 0.005 0.000080 0.0006 0.0050 Pathogenic 4_2083291_C->G 4 2083291 2083291 C G snp 1090.77 0/1 99 83 38 45 0.54 intronic rs35630767 POLN AU NM_181808 exon5 c.9519-68C>G 0.0191693 0.0863 Uncertain 4_2160894_C->T 4 2160894 2160894 C T snp 2970.77 1/1 99 109 1 108 0.99 exonic rs10488836 POLN AU synonymous SNV NM_181808 exon14 c.G1599A p.L533L 0.201478 0.3363 0.117869 0.1132 0.3478 1.000 P Uncertain 4_2175733_A->G 4 2175733 2175733 A G snp 5717.77 1/1 99 216 0 216 1.0 exonic rs2022302 POLN AU synonymous SNV NM_181808 exon11 c.T1323C p.H441H 0.321885 0.373 0.247270 0.1898 0.3889 0.000 P -0.919 T Likely benign 4_2175791_T->C 4 2175791 2175791 T C snp 3641.77 1/1 99 129 1 128 0.99 intronic rs2022343 POLN AU NM_181808 exon16 c.101906+45T>C 0.296725 0.3502 0.039136 0.1896 0.3885 Uncertain 4_2175792_C->G 4 2175792 2175792 C G snp 3633.77 1/1 99 124 0 124 1.0 intronic rs2022342 POLN AU NM_181808 exon16 c.101906+46C>G 0.296326 0.3502 0.041289 0.1896 0.3885 Uncertain 4_2176351_G->A 4 2176351 2176351 G A snp 2330.77 1/1 99 85 2 83 0.98 intronic rs12647917 POLN AU NM_181808 exon17 c.102577-66G>A 0.321885 0.373 0.233246 Uncertain 4_2176454_G->A 4 2176454 2176454 G A snp 2312.77 1/1 99 89 1 88 0.99 exonic rs9328764 POLN AU nonsynonymous SNV NM_181808 exon10 c.C1273T p.R425C 0.321885 0.373 0.247194 0.1905 0.3880 0.31 T 0.001 P -0.974 T 0.0 T 0.001 T Pathogenic 4_2176506_C->T 4 2176506 2176506 C T snp 1237.77 1/1 90 38 0 38 1.0 intronic rs6822665 POLN AU NM_181808 exon17 c.102638+28C>T 0.409944 0.373 0.352837 0.2419 0.3879 Uncertain 4_2177929_G->A 4 2177929 2177929 G A snp 3178.77 1/1 99 120 0 120 1.0 intronic rs6823382 POLN AU NM_181808 exon18 c.104152-63G>A 0.239816 0.3413 0.146299 Uncertain 4_2178108_C->T 4 2178108 2178108 C T snp 1339.77 1/1 96 45 0 45 1.0 intronic rs6599411 POLN AU NM_181808 exon18 c.104221+47C>T 0.321885 0.373 0.247347 0.1896 0.3877 Uncertain 4_2178127_T->G 4 2178127 2178127 T G snp 748.77 1/1 57 24 0 24 1.0 intronic rs6599412 POLN AU NM_181808 exon18 c.104221+66T>G 0.363219 0.373 0.273325 Uncertain 4_2178149_G->A 4 2178149 2178149 G A snp 423.77 1/1 33 11 0 11 1.0 intronic rs6599413 POLN AU NM_181808 exon18 c.104221+88G>A 0.321885 0.373 Uncertain 4_2178196_C->T 4 2178196 2178196 C T snp 50.74 1/1 6 2 0 2 1.0 intronic rs6599414 POLN AU NM_181808 exon18 c.104221+135C>T 0.321885 0.373 Uncertain 4_2179074_A->G 4 2179074 2179074 A G snp 2327.77 1/1 99 88 0 88 1.0 intronic rs6810845 POLN AU NM_181808 exon18 c.104221+1013A>G 0.321885 0.373 Uncertain 4_2179086_T->C 4 2179086 2179086 T C snp 2262.77 1/1 99 78 0 78 1.0 intronic rs6816862 POLN AU NM_181808 exon18 c.104221+1025T>C 0.321885 0.373 Uncertain 4_2181016_T->C 4 2181016 2181016 T C snp 821.77 1/1 60 24 0 24 1.0 intronic rs35787308 POLN AU NM_181808 exon19 c.107194-18T>C 0.321885 0.373 0.246001 0.1899 0.3891 Uncertain 4_2181080_T->C 4 2181080 2181080 T C snp 2438.77 1/1 99 84 0 84 1.0 exonic rs6830513 POLN AU synonymous SNV NM_181808 exon8 c.A1134G p.T378T 0.321885 0.373 0.247040 0.1896 0.3887 0.0 P -0.931 T Likely benign 4_2181313_C->G 4 2181313 2181313 C G snp 1026.77 1/1 75 32 0 32 1.0 intronic rs6820291 POLN AU NM_181808 exon19 c.107352+121C>G 0.321885 0.373 Uncertain 4_2181359_C->T 4 2181359 2181359 C T snp 345.78 1/1 27 9 0 9 1.0 intronic rs6820321 POLN AU NM_181808 exon19 c.107352+167C>T 0.321885 0.373 Uncertain 4_2194901_A->C 4 2194901 2194901 A C snp 1990.77 1/1 99 72 0 72 1.0 intronic rs10015921 POLN AU NM_181808 exon20 c.121090-29A>C 0.330671 0.372 0.253498 0.1988 0.3938 Uncertain 4_2194946_C->T 4 2194946 2194946 C T snp 2283.77 1/1 99 82 0 82 1.0 exonic rs10011549 POLN AU nonsynonymous SNV NM_181808 exon7 c.G1006A p.G336S 0.330671 0.372 0.257536 0.1906 0.3819 0.53 T 0.0 P -0.974 T 0.014 T 0.009 T Pathogenic 4_2194953_G->A 4 2194953 2194953 G A snp 2266.77 1/1 99 86 0 86 1.0 exonic rs10002583 POLN AU synonymous SNV NM_181808 exon7 c.C999T p.G333G 0.330671 0.372 0.257767 0.1905 0.3818 Uncertain 4_2195024_T->G 4 2195024 2195024 T G snp 1746.77 1/1 99 66 0 66 1.0 exonic rs10018786 POLN AU nonsynonymous SNV NM_181808 exon7 c.A928C p.M310L 0.330671 0.372 0.257420 0.1940 0.3875 1 T 0.0 P -0.944 T 0.0 T 0.0 T Pathogenic 4_2195089_T->C 4 2195089 2195089 T C snp 785.77 1/1 57 27 0 27 1.0 intronic rs10018882 POLN AU NM_181808 exon20 c.121203+46T>C 0.330671 0.372 0.250732 0.1925 0.3892 Uncertain 4_2195128_A->G 4 2195128 2195128 A G snp 388.77 1/1 30 11 0 11 1.0 intronic rs10016105 POLN AU NM_181808 exon20 c.121203+85A>G 0.323482 0.372 Uncertain 4_2195151_C->T 4 2195151 2195151 C T snp 212.84 1/1 18 7 0 7 1.0 intronic rs10011749 POLN AU NM_181808 exon20 c.121203+108C>T 0.330671 0.372 Uncertain 4_2252174_G->C 4 2252174 2252174 G C snp 56.74 1/1 6 2 0 2 1.0 UTR3 rs1052685 MXD4 AU 0.248203 0.3403 Uncertain 4_2252201_C->T 4 2252201 2252201 C T snp 139.03 1/1 12 4 0 4 1.0 UTR3 rs1052682 MXD4 AU 0.427716 0.3661 Uncertain 4_2252531_G->A 4 2252531 2252531 G A snp 1536.77 1/1 99 55 0 55 1.0 intronic rs2071661 MXD4 AU NM_006454 exon1 c.158+103G>A 0.251398 0.3403 Uncertain 4_2252598_A->G 4 2252598 2252598 A G snp 398.77 1/1 30 12 0 12 1.0 intronic rs2071660 MXD4 AU NM_006454 exon1 c.158+170A>G 0.252995 0.3413 Uncertain 4_2252624_A->G 4 2252624 2252624 A G snp 99.28 1/1 9 3 0 3 1.0 intronic rs2071659 MXD4 AU NM_006454 exon2 c.540-186A>G 0.338059 0.374 Uncertain 4_2252980_T->G 4 2252980 2252980 T G snp 1446.77 1/1 99 52 1 51 0.98 intronic rs2071658 MXD4 AU NM_006454 exon2 c.703+7T>G 0.296326 0.374 0.226923 0.2355 0.4034 Uncertain 4_2256798_T->C 4 2256798 2256798 T C snp 386.77 1/1 30 12 0 12 1.0 intronic rs2236999 MXD4 AU NM_006454 exon3 c.1979+2549T>C 0.356629 0.377 Uncertain 4_2260812_T->C 4 2260812 2260812 T C snp 395.77 1/1 30 13 0 13 1.0 intronic rs28619238 MXD4 AU NM_006454 exon4 c.7468+1074T>C 0.328075 0.376 0.2710 0.4756 Uncertain 4_2262191_A->G 4 2262191 2262191 A G snp 1369.77 1/1 99 46 0 46 1.0 intronic rs2269487 MXD4 AU NM_006454 exon5 c.11181-1260A>G 0.327476 0.377 Uncertain 4_2273271_G->T 4 2273271 2273271 G T snp 676.77 0/1 99 59 33 26 0.44 intronic rs56945802 ZFYVE28 AU NM_020972 exon3 c.950-130G>T 0.109425 0.1468 Uncertain 4_2275145_G->A 4 2275145 2275145 G A snp 170.77 0/1 99 18 12 6 0.33 intronic rs736455 ZFYVE28 AU NM_020972 exon4 c.2565+129G>A 0.35603 0.12 Uncertain 4_2275718_G->A 4 2275718 2275718 G A snp 1412.77 0/1 99 151 86 65 0.43 intronic rs2182682 ZFYVE28 AU NM_020972 exon5 c.3337-70G>A 0.353035 0.12 Uncertain 4_2275835_G->A 4 2275835 2275835 G A snp 2751.77 0/1 99 240 116 124 0.52 exonic rs2051561 ZFYVE28 AU synonymous SNV NM_001172656 exon8 c.C2070T p.F690F 0.35623 0.12 0.474627 0.4678 0.1166 Uncertain 4_2276047_T->C 4 2276047 2276047 T C snp 265.8 1/1 21 9 0 9 1.0 intronic rs11248093 ZFYVE28 AU NM_020972 exon5 c.3492+104T>C 0.582468 0.3125 Uncertain 4_2305857_C->T 4 2305857 2305857 C T snp 92.77 0/1 99 12 8 4 0.33 intronic rs79615849 ZFYVE28 AU NM_020972 exon6 c.33564-158C>T 0.0151757 0.0754 Uncertain 4_2305883_C->T 4 2305883 2305883 C T snp 291.77 0/1 99 26 15 11 0.42 intronic rs150516585 ZFYVE28 AU NM_020972 exon6 c.33564-132C>T 0.0305511 0.0516 Uncertain 4_2306053_A->G 4 2306053 2306053 A G snp 3595.77 1/1 99 130 0 130 1.0 exonic rs661301 ZFYVE28 AU nonsynonymous SNV NM_001172656 exon7 c.T1924C p.S642P 0.723842 0.6806 0.782977 0.7923 0.7089 0.38 T 0.0 P -1.006 T 0.0 T 0.0 T Pathogenic 4_2332799_C->T 4 2332799 2332799 C T snp 543.77 1/1 42 14 0 14 1.0 intronic rs1887364 ZFYVE28 AU NM_001172657 exon1 c.163+24C>T 0.789337 0.8601 0.7421 0.8529 Uncertain 4_2337256_G->A 4 2337256 2337256 G A snp 44.77 0/1 31 3 1 2 0.67 intronic rs2071683 ZFYVE28 AU NM_001172660 exon2 c.6563-175G>A 0.22524 0.495 Uncertain 4_2337533_G->A 4 2337533 2337533 G A snp 1922.77 0/1 99 168 83 85 0.51 intronic rs10434499 ZFYVE28 AU NM_001172660 exon2 c.6653+12G>A 0.0145767 0.0724 0.000546 0.0045 0.0963 Uncertain 4_2341137_C->T 4 2341137 2341137 C T snp 1513.77 0/1 99 131 69 62 0.47 intronic rs2071681 ZFYVE28 AU NM_001172660 exon4 c.10311-42C>T 0.254393 0.4911 0.139034 0.1973 0.4723 Uncertain 4_2341194_T->C 4 2341194 2341194 T C snp 5880.77 1/1 99 210 0 210 1.0 exonic rs2071680 ZFYVE28 AU synonymous SNV NM_001172658 exon3 c.A366G p.A122A 0.642173 0.6994 0.607796 0.6036 0.6842 Uncertain 4_2341445_A->G 4 2341445 2341445 A G snp 99.28 1/1 9 3 0 3 1.0 intronic rs13110406 ZFYVE28 AU NM_001172660 exon4 c.10514+63A>G 0.463059 0.5685 Uncertain 4_2343150_T->A 4 2343150 2343150 T A snp 116.77 0/1 58 6 2 4 0.67 intronic rs3118613 ZFYVE28 AU NM_001172660 exon5 c.12336-54T>A 0.179313 0.1756 Uncertain 4_2343181_C->T 4 2343181 2343181 C T snp 191.77 0/1 99 15 7 8 0.53 intronic rs2071679 ZFYVE28 AU NM_001172660 exon5 c.12336-23C>T 0.250599 0.501 0.153331 0.2329 0.4809 Uncertain 4_2343349_C->G 4 2343349 2343349 C G snp 794.77 0/1 99 89 56 33 0.37 intronic rs615447 ZFYVE28 AU NM_001172660 exon5 c.12474+7C>G 0.195288 0.1746 0.181839 0.2077 0.1932 Uncertain 4_2343474_C->T 4 2343474 2343474 C T snp 298.77 0/1 99 25 12 13 0.52 intronic rs57991672 ZFYVE28 AU NM_001172660 exon5 c.12474+132C>T 0.0459265 0.0734 Uncertain 4_2438492_T->C 4 2438492 2438492 T C snp 46.74 1/1 6 2 0 2 1.0 intronic rs1203763 CFAP99 AU NM_001193282 exon3 c.10398-108T>C 0.827476 0.9931 Uncertain 4_2439670_A->G 4 2439670 2439670 A G snp 3084.77 1/1 99 95 0 95 1.0 intronic rs1203762 CFAP99 AU NM_001193282 exon4 c.11594-126A>G 0.824081 0.9931 Uncertain 4_2439738_G->A 4 2439738 2439738 G A snp 7207.77 1/1 99 250 0 250 1.0 intronic rs7688771 CFAP99 AU NM_001193282 exon4 c.11594-58G>A 0.413538 0.5417 Uncertain 4_2439756_-->T 4 2439756 2439756 - T indel 11266.7 1/1 99 250 0 250 1.0 intronic rs5855731 CFAP99 AU NM_001193282 exon4 c.11594-40insT 0.495208 0.6448 0.4520 0.6531 Uncertain 4_2439900_C->A 4 2439900 2439900 C A snp 5239.77 1/1 99 180 0 180 1.0 intronic rs7660914 CFAP99 AU NM_001193282 exon4 c.11689+9C>A 0.405551 0.5347 0.3679 0.555 Uncertain 4_2439965_G->C 4 2439965 2439965 G C snp 1391.77 1/1 99 39 0 39 1.0 intronic rs17132558 CFAP99 AU NM_001193282 exon4 c.11689+74G>C 0.353435 0.5357 Uncertain 4_2440021_A->G 4 2440021 2440021 A G snp 180.9 1/1 15 5 0 5 1.0 intronic rs28599556 CFAP99 AU NM_001193282 exon4 c.11689+130A>G 0.51258 0.6528 Uncertain 4_2446720_G->C 4 2446720 2446720 G C snp 139.77 0/1 99 13 7 6 0.46 intronic rs3849664 CFAP99 AU NM_001193282 exon6 c.18655-137G>C 0.248802 0.2679 Uncertain 4_2451694_T->C 4 2451694 2451694 T C snp 7159.77 1/1 99 249 0 249 1.0 exonic rs3108494 CFAP99 AU nonsynonymous SNV NM_001193282 exon8 c.T757C p.C253R 0.930112 0.9772 0.8756 0.9762 Pathogenic 4_2451949_A->G 4 2451949 2451949 A G snp 255.77 0/1 99 16 8 8 0.5 intronic rs2239735 CFAP99 AU NM_001193282 exon8 c.23530+217A>G 0.742412 0.7371 Uncertain 4_2452933_T->C 4 2452933 2452933 T C snp 886.77 0/1 99 93 55 38 0.41 intronic rs3888113 CFAP99 AU NM_001193282 exon10 c.24788-57T>C 0.744609 0.7371 Uncertain 4_2460571_C->T 4 2460571 2460571 C T snp 737.77 0/1 99 58 25 33 0.57 exonic rs73205493 CFAP99 AU nonsynonymous SNV NM_001193282 exon12 c.C1283T p.A428V 0.344249 0.5952 0.3528 0.5495 0.39 T -0.952 T Pathogenic 4_2460803_A->G 4 2460803 2460803 A G snp 852.77 1/1 63 26 0 26 1.0 intronic rs704346 CFAP99 AU NM_001193282 exon13 c.32631-30A>G 0.691294 0.8998 0.7238 0.8939 Uncertain 4_2461888_A->G 4 2461888 2461888 A G snp 5095.77 1/1 99 190 0 190 1.0 exonic rs3135152 CFAP99 AU nonsynonymous SNV NM_001193282 exon14 c.A1580G p.H527R 0.9998 1 1 1 0.78 T -0.941 T Pathogenic 4_2464179_A->G 4 2464179 2464179 A G snp 430.77 1/1 33 16 0 16 1.0 exonic rs3135150 CFAP99 AU synonymous SNV NM_001193282 exon15 c.A1671G p.E557E 0.698882 0.7014 0.7913 0.7315 Uncertain 4_2464241_G->A 4 2464241 2464241 G A snp 175.77 0/1 99 31 22 9 0.29 exonic CFAP99 AU nonsynonymous SNV NM_001193282 exon15 c.G1733A p.R578Q 1 T 1 D -0.980 T Pathogenic 4_2502299_-->TT 4 2502299 2502299 - TT indel 461.74 1/1 27 9 0 9 1.0 intronic rs55745322 RNF4 AU NM_002938 exon4 c.10165-86insTT Uncertain 4_2502637_T->C 4 2502637 2502637 T C snp 188.77 0/1 99 18 11 7 0.39 intronic rs1203863 RNF4 AU NM_002938 exon4 c.10245+172T>C 0.249002 0.3859 Uncertain 4_2513615_G->C 4 2513615 2513615 G C snp 1016.77 0/1 99 101 59 42 0.42 intronic rs1770823 RNF4 AU NM_002938 exon5 c.21462-67G>C 0.282548 0.373 0.208498 Uncertain 4_2513620_G->A 4 2513620 2513620 G A snp 2773.77 1/1 99 100 0 100 1.0 intronic rs3128839 RNF4 AU NM_002938 exon5 c.21462-62G>A 0.933107 0.9315 0.881078 Uncertain 4_2513624_A->G 4 2513624 2513624 A G snp 1356.77 0/1 99 101 45 56 0.55 intronic rs4974709 RNF4 AU NM_002938 exon5 c.21462-58A>G 0.346046 0.3968 0.352606 Uncertain 4_2513842_A->G 4 2513842 2513842 A G snp 94.28 1/1 9 3 0 3 1.0 intronic rs2269490 RNF4 AU NM_002938 exon5 c.21472+150A>G 0.920727 0.9325 Uncertain 4_2674244_C->T 4 2674244 2674244 C T snp 77.77 0/1 99 7 4 3 0.43 intronic FAM193A AU NM_003704 exon11 c.41368+145C>T Uncertain 4_2698364_C->T 4 2698364 2698364 C T snp 766.77 0/1 99 70 38 32 0.46 intronic rs3733215 FAM193A AU NM_003704 exon16 c.65589+44C>T 0.388778 0.4048 0.363140 0.4376 0.4262 Uncertain 4_2717690_C->T 4 2717690 2717690 C T snp 770.77 0/1 99 45 20 25 0.56 intronic rs2295499 FAM193A AU NM_003704 exon18 c.85018-59C>T 0.454673 0.4018 0.434516 Uncertain 4_2721811_C->T 4 2721811 2721811 C T snp 440.77 0/1 99 56 33 23 0.41 intronic rs556203 FAM193A AU NM_001256668 exon19 c.89068+12C>T 0.238219 0.2698 0.25 0 Uncertain 4_2744087_G->A 4 2744087 2744087 G A snp 640.77 0/1 99 61 36 25 0.41 exonic rs2269495 TNIP2 AU nonsynonymous SNV NM_001292016 exon5 c.C938T p.A313V 0.342851 0.3879 0.330770 0.4335 0.3791 0.06 T 0.0 P -0.926 T 0.617 T 0.173 P Pathogenic 4_2746285_A->C 4 2746285 2746285 A C snp 2441.77 0/1 99 200 96 104 0.52 intronic rs13145281 TNIP2 AU NM_001161527 exon2 c.2250+52A>C 0.490815 0.4345 0.437294 0.5033 0.4268 Uncertain 4_2746307_A->C 4 2746307 2746307 A C snp 2212.77 0/1 99 172 79 93 0.54 intronic rs11728346 TNIP2 AU NM_001161527 exon2 c.2250+74A>C 0.804712 0.6577 Uncertain 4_2822289_C->A 4 2822289 2822289 C A snp 1886.77 0/1 99 138 56 82 0.59 intronic rs2239727 SH3BP2 AD NM_001145856 exon2 c.2390-51C>A 0.539137 0.4712 Uncertain 4_2822467_G->T 4 2822467 2822467 G T snp 1254.77 0/1 99 107 56 51 0.48 exonic rs231402 SH3BP2 AD synonymous SNV NM_003023 exon2 c.G123T p.L41L 0.372005 0.4603 0.349739 0.4514 0.4645 Uncertain 4_2826218_-->A 4 2826218 2826218 - A indel 547.73 0/1 99 29 14 15 0.52 intronic rs34274570 SH3BP2 AD NM_003023 exon4 c.3995-121insA 0.782548 0.5536 Uncertain 4_2826400_T->C 4 2826400 2826400 T C snp 2474.77 0/1 99 204 104 100 0.49 exonic rs3213501 SH3BP2 AD synonymous SNV NM_003023 exon4 c.T300C p.H100H 0.78754 0.5546 0.797171 0.7538 0.5339 Uncertain 4_2828527_G->C 4 2828527 2828527 G C snp 803.77 0/1 99 77 42 35 0.45 intronic rs62637096 SH3BP2 AD NM_003023 exon6 c.6612-429G>C 0.377995 0.5149 Uncertain 4_2828630_G->T 4 2828630 2828630 G T snp 1045.77 0/1 99 83 35 48 0.58 intronic rs62645794 SH3BP2 AD NM_003023 exon6 c.6612-326G>T 0.217851 0.4474 0.2350 0.3974 Uncertain 4_2828771_T->G 4 2828771 2828771 T G snp 943.77 0/1 99 63 28 35 0.56 intronic rs1794395 SH3BP2 AD NM_003023 exon6 c.6612-185T>G 0.498003 0.4712 0.5739 0.5584 Uncertain 4_2828774_C->G 4 2828774 2828774 C G snp 995.77 0/1 99 64 29 35 0.55 intronic rs545728343 SH3BP2 AD NM_003023 exon6 c.6612-182C>G 0.000199681 0.001 0 0 Uncertain 4_2829077_T->C 4 2829077 2829077 T C snp 824.77 0/1 99 57 29 28 0.49 intronic rs2269485 SH3BP2 AD NM_003023 exon6 c.6701+32T>C 0.776757 0.5526 0.781562 0.7481 0.5312 Uncertain 4_2829478_G->C 4 2829478 2829478 G C snp 856.77 0/1 99 49 22 27 0.55 intronic rs13137906 SH3BP2 AD NM_003023 exon7 c.7057+77G>C 0.776957 0.5516 Uncertain 4_2831383_T->G 4 2831383 2831383 T G snp 1277.77 0/1 99 116 57 59 0.51 exonic rs231399 SH3BP2 AD synonymous SNV NM_003023 exon8 c.T750G p.A250A 0.466254 0.4712 0.454329 0.5037 0.4544 Uncertain 4_2833966_G->A 4 2833966 2833966 G A snp 2825.77 0/1 99 217 98 119 0.55 intronic rs231396 SH3BP2 AD NM_003023 exon11 c.11713-91G>A 0.34385 0.4196 Uncertain 4_2901349_A->G 4 2901349 2901349 A G snp 419.77 0/1 99 30 16 14 0.47 intronic rs2071695 ADD1 AO NM_176801 exon9 c.23520+187A>G 0.259984 0.4563 0.2099 0.4337 Uncertain 4_2906453_T->G 4 2906453 2906453 T G snp 1363.77 0/1 99 96 39 57 0.59 intronic rs2239728 ADD1 AO NM_176801 exon10 c.28848-37T>G 0.241414 0.4544 0.190143 0.2136 0.4796 Uncertain 4_2906707_G->T 4 2906707 2906707 G T snp 1534.77 0/1 99 122 62 60 0.49 exonic rs4961 ADD1 AO nonsynonymous SNV NM_014190 exon10 c.G1378T p.G460W 0.208466 0.4524 0.158004 0.2019 0.4760 0.02 T 1.000 P -0.946 T 1.0 D 1.0 D CLINSIG=other;CLNDBN=Hypertension\x2c_salt-sensitive_essential\x2c_susceptibility_to;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000019936.1;CLNDSDB=.;CLNDSDBID=. ID=CM021240;DIS=Hypertension, association with;TAG=DFP;PUB=9149697 DFP Pathogenic 4_2906957_C->G 4 2906957 2906957 C G snp 191.77 0/1 99 9 3 6 0.67 intronic rs17777371 ADD1 AO NM_176801 exon10 c.29193+122C>G 0.0738818 0.0923 Uncertain 4_2916762_C->G 4 2916762 2916762 C G snp 959.77 0/1 99 89 48 41 0.46 exonic rs4963 ADD1 AO nonsynonymous SNV NM_014190 exon13 c.C1757G p.S586C 0.237819 0.4524 0.181378 0.2136 0.4824 0.14 T 0.0 P -0.888 T 0.94 T 0.694 D ID=CM1314034;DIS=Gastric cancer, non-cardia, increased risk;TAG=DP;PUB=23985264 DP Pathogenic 4_2928125_C->T 4 2928125 2928125 C T snp 557.77 0/1 99 67 45 22 0.33 intronic rs1263345 ADD1 AO NM_176801 exon15 c.50726-243C>T 0.744209 0.5694 Uncertain 4_2928413_T->C 4 2928413 2928413 T C snp 838.77 0/1 99 87 47 40 0.46 intronic rs4964 ADD1 AO NM_176801 exon15 c.50760+11T>C 0.766973 0.5724 0.817288 0.7902 0.5449 Uncertain 4_2933271_G->A 4 2933271 2933271 G A snp 5006.77 1/1 99 181 0 181 1.0 intronic rs1263348 MFSD10 AU NM_001146069 exon5 c.717-10G>A 0.498403 0.4911 0.466226 0.5491 0.5064 Uncertain 4_2934308_G->A 4 2934308 2934308 G A snp 3271.77 0/1 99 250 118 132 0.53 intronic rs1263349 MFSD10 AU NM_001146069 exon9 c.1762-18G>A 0.743211 0.5427 0.796863 0.7862 0.5155 Uncertain 4_2935251_T->A 4 2935251 2935251 T A snp 2335.77 0/1 99 221 111 110 0.5 intronic rs2301374 MFSD10 AU NM_001146069 exon11 c.2729-42T>A 0.746605 0.5675 0.796555 0.7868 0.5466 Uncertain 4_2943361_T->C 4 2943361 2943361 T C snp 458.77 0/1 99 46 27 19 0.41 exonic rs1054090 NOP14 AU nonsynonymous SNV NM_001291978 exon15 c.A2147G p.Q716R 0.405152 0.1905 0.489005 0.4040 0.1847 0 D 0.0 P -0.963 T 0.0 T 0.001 T Pathogenic 4_2948316_A->G 4 2948316 2948316 A G snp 1784.77 0/1 99 155 74 81 0.52 ncRNA_intronic rs766604819 NOP14-AS1 AU 8.48e-06 0 Uncertain 4_2948456_G->A 4 2948456 2948456 G A snp 188.77 0/1 99 11 4 7 0.64 ncRNA_intronic rs2488809 NOP14-AS1 AU 0.399361 0.1895 Uncertain 4_2949878_A->G 4 2949878 2949878 A G snp 161.78 0/1 24 7 1 6 0.86 ncRNA_intronic rs7665452 NOP14-AS1 AU 0.111621 0.0972 Uncertain 4_2951804_A->G 4 2951804 2951804 A G snp 2745.77 0/1 99 249 132 117 0.47 exonic rs2515960 NOP14 AU nonsynonymous SNV NM_001291978 exon8 c.T1139C p.L380S 0.407548 0.1915 0.496309 0.4067 0.1828 0 D 0.012 P -0.971 T 0.0 T 0.0 T Pathogenic 4_2955145_T->C 4 2955145 2955145 T C snp 301.77 0/1 99 27 13 14 0.52 intronic rs1475977 NOP14 AU NM_001291978 exon14 c.14680-92T>C 0.40016 0.1875 Uncertain 4_2955192_C->G 4 2955192 2955192 C G snp 665.77 0/1 99 56 31 25 0.45 intronic rs1475976 NOP14 AU NM_001291978 exon14 c.14680-45C>G 0.401957 0.1875 0.484699 0.3965 0.1829 Uncertain 4_2955465_T->C 4 2955465 2955465 T C snp 791.77 0/1 99 53 25 28 0.53 intronic rs1475975 NOP14 AU NM_001291978 exon14 c.14815+93T>C 0.400559 0.1875 Uncertain 4_2965611_G->C 4 2965611 2965611 G C snp 277.77 0/1 99 26 13 13 0.5 UTR5 rs13120295 GRK4 AU 0.363419 0.1905 ID=CR087922;DIS=Increased transcriptional activity;TAG=FP;PUB=18711008 FP Uncertain 4_2966987_C->T 4 2966987 2966987 C T snp 2901.77 0/1 99 247 123 124 0.5 intronic rs60504719 GRK4 AU NM_001004056 exon1 c.52+1138C>T 0.0806709 0.0972 0.0508 0.09 0 D 0.0 P -0.967 T 0.89 T 0.702 P Uncertain 4_2988636_C->T 4 2988636 2988636 C T snp 423.77 0/1 99 54 35 19 0.35 intronic rs2488815 GRK4 AU NM_001004056 exon2 c.24656-1817C>T 0.392173 0.1905 Uncertain 4_3006043_C->T 4 3006043 3006043 C T snp 1714.77 0/1 99 159 85 74 0.47 exonic rs1024323 GRK4 AU nonsynonymous SNV NM_182982 exon5 c.C425T p.A142V 0.373203 0.1895 0.454098 0.3648 0.1825 0.27 T 0.000 P -1.109 T 0.001 T 0.004 T ID=CM025430;DIS=Altered activity;TAG=FP;PUB=12446468 FP Pathogenic 4_3029588_G->A 4 3029588 3029588 G A snp 2404.77 1/1 99 87 0 87 1.0 intronic rs2857844 GRK4 AU NM_001004056 exon10 c.63841-50G>A 0.518171 0.6895 0.477087 0.5898 0.6804 Uncertain 4_3036950_T->A 4 3036950 3036950 T A snp 36.78 0/1 27 3 1 2 0.67 intronic rs544347389 GRK4 AU NM_001004056 exon12 c.71315-162T>A 0.000199681 0.001 Uncertain 4_3039150_T->C 4 3039150 3039150 T C snp 3227.04 1/1 99 110 0 110 1.0 exonic rs1801058 GRK4 AU nonsynonymous SNV NM_182982 exon14 c.T1457C p.V486A 0.693291 0.5337 0.675381 0.6266 0.4903 0.08 T 0.000 P -0.959 T 0.001 T 0.003 T ID=CM066866;DIS=Essential hypertension, association with;TAG=DFP;PUB=12446468 DFP Pathogenic 4_3039311_C->T 4 3039311 3039311 C T snp 431.77 1/1 33 12 0 12 1.0 intronic rs2071689 GRK4 AU NM_001004056 exon13 c.73441+73C>T 0.677915 0.5298 Uncertain 4_3040068_T->G 4 3040068 3040068 T G snp 1409.77 0/1 99 140 81 59 0.42 intronic rs34020100 GRK4 AU NM_001004056 exon14 c.74305-34T>G 0.101637 0.0942 0.091650 0.0693 0.0978 Uncertain 4_3040279_-->A 4 3040279 3040279 - A indel 140.19 1/1 4 22 1 21 0.95 intronic rs11451355 GRK4 AU NM_001004056 exon14 c.74443+39insA 0.455871 0.4405 0.4365 0.4055 Uncertain 4_3076604_CAGCAG->- 4 3076604 3076609 CAGCAG - indel 1297.73 ./1 99 29 0 29 1.0 exonic rs374076986 HTT AD nonframeshift deletion NM_002111 exon1 c.52_57del p.18_19del 0.377796 0.7421 0.224747 0.1754 0.1667 Uncertain 4_3076604_CAG->- 4 3076604 3076606 CAG - indel 1297.73 ./1 99 29 0 29 1.0 exonic rs71180116 HTT AD nonframeshift deletion NM_002111 exon1 c.52_54del p.18_18del 0.0721 0.0614 Uncertain 4_3076672_A->G 4 3076672 3076672 A G snp 195.77 0/1 99 26 15 11 0.42 exonic rs76533208 HTT AD synonymous SNV NM_002111 exon1 c.A120G p.P40P 0.0597 0.2407 Uncertain 4_3122931_A->G 4 3122931 3122931 A G snp 1172.77 0/1 99 91 47 44 0.48 intronic rs185461975 HTT AD NM_002111 exon9 c.46402-23A>G 0.0002 0.0013 Uncertain 4_3142528_A->T 4 3142528 3142528 A T snp 181.77 0/1 99 12 5 7 0.58 intronic rs363072 HTT AD NM_002111 exon22 c.65831+145A>T 0.173922 0.1329 Uncertain 4_3176377_A->G 4 3176377 3176377 A G snp 931.77 0/1 99 81 46 35 0.43 intronic rs185772285 HTT AD NM_002111 exon32 c.99895-70A>G 0.000399361 0.002 Uncertain 4_3188128_T->G 4 3188128 3188128 T G snp 227.77 0/1 99 11 4 7 0.64 intronic rs184622266 HTT AD NM_002111 exon38 c.111771-195T>G 0.000199681 0.001 Uncertain 4_3219613_A->C 4 3219613 3219613 A C snp 2626.77 1/1 99 89 0 89 1.0 exonic rs2857790 HTT AD synonymous SNV NM_002111 exon52 c.A7176C p.L2392L 0.984824 1 0.986330 0.9956 1 Uncertain 4_3230804_A->C 4 3230804 3230804 A C snp 821.77 1/1 60 27 0 27 1.0 intronic rs2530598 HTT AD NM_002111 exon59 c.154184+68A>C 0.514577 0.625 Uncertain 4_3231661_G->A 4 3231661 3231661 G A snp 3131.77 0/1 99 250 115 135 0.54 exonic rs2276881 HTT AD synonymous SNV NM_002111 exon60 c.G8157A p.L2719L 0.144569 0.3621 0.051167 0.1074 0.3317 Uncertain 4_3236881_T->G 4 3236881 3236881 T G snp 96.28 1/1 9 3 0 3 1.0 intronic rs2798230 HTT AD NM_002111 exon62 c.160458-129T>G 0.946486 1 Uncertain 4_3236883_A->G 4 3236883 3236883 A G snp 99.28 1/1 9 3 0 3 1.0 intronic rs2858082 HTT AD NM_002111 exon62 c.160458-127A>G 0.83726 0.995 Uncertain 4_3240526_A->G 4 3240526 3240526 A G snp 1208.77 1/1 87 40 0 40 1.0 intronic rs2858081 HTT AD NM_002111 exon66 c.163992-18A>G 0.989018 0.999 0.986515 0.9964 0.9998 Uncertain 4_3255258_A->G 4 3255258 3255258 A G snp 1791.77 0/1 99 111 50 61 0.55 intronic rs2798227 MSANTD1 AU NM_001042690 exon2 c.4260+49A>G 0.299121 0.3829 0.331001 0.4077 0.4162 Uncertain 4_3255292_C->T 4 3255292 3255292 C T snp 1025.77 0/1 99 66 28 38 0.58 intronic rs2798226 MSANTD1 AU NM_001042690 exon2 c.4260+83C>T 0.235024 0.3095 Uncertain 4_3257373_T->C 4 3257373 3257373 T C snp 210.77 0/1 99 21 13 8 0.38 intronic rs3135173 MSANTD1 AU NM_001042690 exon3 c.6502-78T>C 0.313498 0.3373 Uncertain 4_3257593_C->T 4 3257593 3257593 C T snp 727.77 0/1 99 57 23 34 0.6 exonic rs362287 MSANTD1 AU synonymous SNV NM_001042690 exon3 c.C738T p.R246R 0.257188 0.3343 0.234367 0.2952 0.3813 Uncertain 4_3263138_G->A 4 3263138 3263138 G A snp 1587.77 0/1 99 153 84 69 0.45 intergenic rs3095073 MSANTD1 AU 0.291733 0.3442 0.2840 0.3623 0.76 T 0.0 P -0.930 T Uncertain 4_3265381_A->G 4 3265381 3265381 A G snp 52.74 1/1 6 2 0 2 1.0 intergenic rs3129319 MSANTD1 AU 0.336661 0.3819 Uncertain 4_3265414_C->T 4 3265414 3265414 C T snp 149.77 0/1 99 12 7 5 0.42 intergenic rs3095079 MSANTD1 AU 0.334065 0.3819 Uncertain 4_3265479_C->T 4 3265479 3265479 C T snp 1060.77 0/1 99 82 36 46 0.56 intergenic rs3095078 MSANTD1 AU 0.334065 0.3819 Uncertain 4_3265710_C->T 4 3265710 3265710 C T snp 1414.77 0/1 99 90 43 47 0.52 intergenic rs3095077 MSANTD1 AU 0.292931 0.381 0.311087 0.3441 0.3872 Uncertain 4_3318413_A->G 4 3318413 3318413 A G snp 3442.77 0/1 99 247 106 141 0.57 exonic rs2236052 RGS12 AU synonymous SNV NM_198229 exon2 c.A516G p.S172S 0.746006 0.6617 0.708212 0.6517 0.6497 Uncertain 4_3319553_C->T 4 3319553 3319553 C T snp 2710.77 0/1 99 235 121 114 0.49 exonic rs2281470 RGS12 AU synonymous SNV NM_198229 exon2 c.C1656T p.S552S 0.158746 0.3363 0.066518 0.1127 0.3239 Uncertain 4_3344891_T->C 4 3344891 3344891 T C snp 41.77 0/1 70 4 2 2 0.5 intronic rs2073286 RGS12 AU NM_002926 exon3 c.26883+111T>C 0.32488 0.3393 Uncertain 4_3429856_A->G 4 3429856 3429856 A G snp 2963.77 0/1 99 231 113 118 0.51 exonic rs2269497 RGS12 AU nonsynonymous SNV NM_198229 exon15 c.A3371G p.N1124S 0.0411342 0.0526 0.028218 0.0382 0.0522 1 T 1.000 N -0.983 T 0.004 T 0.01 T Pathogenic 4_3443993_C->G 4 3443993 3443993 C G snp 369.28 0/1 9 14 1 13 0.93 intronic rs28720738 HGFAC AU NM_001297439 exon1 c.117+148C>G 0.211861 0.3373 Uncertain 4_3444593_G->A 4 3444593 3444593 G A snp 2848.77 1/1 99 106 0 106 1.0 exonic rs2073504 HGFAC AU synonymous SNV NM_001297439 exon2 c.G252A p.P84P 0.230631 0.372 0.179566 0.2021 0.3636 Uncertain 4_3445745_C->T 4 3445745 3445745 C T snp 2218.77 1/1 99 88 1 87 0.99 intronic rs4690097 HGFAC AU NM_001297439 exon5 c.2037-20C>T 0.731829 0.9236 0.681587 0.7179 0.9310 Uncertain 4_3446091_G->T 4 3446091 3446091 G T snp 2178.77 0/1 99 196 96 100 0.51 exonic rs3748034 HGFAC AU nonsynonymous SNV NM_001297439 exon6 c.G652T p.A218S 0.133786 0.3085 0.104721 0.2047 0.3852 0.38 T 0.042 P -0.903 T 0.659 T 0.332 P ID=CM155404;DIS=Increased hepatocyte growth factor levels, association with;TAG=FP;PUB=25998175 FP Pathogenic 4_3446132_C->G 4 3446132 3446132 C G snp 4144.77 1/1 99 153 0 153 1.0 exonic rs1987546 HGFAC AU nonsynonymous SNV NM_001297439 exon6 c.C693G p.F231L 0.734026 0.9236 0.672160 0.7297 0.9309 0.33 T 0.0 P -0.976 T 0.0 T 0.001 T Pathogenic 4_3446751_T->C 4 3446751 3446751 T C snp 1106.77 1/1 81 37 0 37 1.0 intronic rs3752439 HGFAC AU NM_001297439 exon8 c.2992+31T>C 0.504393 0.8204 0.384313 0.5307 0.8478 Uncertain 4_3446820_C->T 4 3446820 3446820 C T snp 171.8 0/1 21 7 1 6 0.86 intronic rs3752441 HGFAC AU NM_001297439 exon8 c.2992+100C>T 0.127396 0.0734 Uncertain 4_3447243_C->T 4 3447243 3447243 C T snp 387.77 1/1 30 15 0 15 1.0 intronic rs16844383 HGFAC AU NM_001297439 exon9 c.3349+166C>T 0.188898 0.3651 Uncertain 4_3449146_AG->- 4 3449146 3449147 AG - indel 1321.73 0/1 99 58 30 28 0.48 intronic rs60265667 HGFAC AU NM_001297439 exon12 c.5490-72_5490-71delAG 0.0489217 0.0565 Uncertain 4_3449886_G->A 4 3449886 3449886 G A snp 1831.77 1/1 91 72 2 70 0.97 exonic rs28468427 HGFAC AU synonymous SNV NM_001297439 exon14 c.G1689A p.E563E 0.278155 0.3581 0.241225 0.3377 0.4389 Uncertain 4_3465344_A->G 4 3465344 3465344 A G snp 44.77 0/1 73 7 4 3 0.43 intronic rs139051035 DOK7 AR NM_173660 exon2 c.176+66A>G 0.131589 0.0556 Uncertain 4_3475107_G->C 4 3475107 3475107 G C snp 117.77 0/1 99 18 11 7 0.39 intronic rs2344208 DOK7 AR NM_173660 exon3 c.10030-25G>C 0.270367 0.2827 0.2067 0.3050 Uncertain 4_3475252_T->C 4 3475252 3475252 T C snp 1191.77 1/1 84 49 0 49 1.0 exonic rs4325970 DOK7 AR synonymous SNV NM_173660 exon3 c.T220C p.L74L 1 1 1.0000 1 Uncertain 4_3475406_G->T 4 3475406 3475406 G T snp 161.77 0/1 57 7 2 5 0.71 intronic rs57204641 DOK7 AR NM_173660 exon3 c.10261+43G>T 0.0752796 0.0625 0.041119 0.0607 0.0519 Uncertain 4_3478323_T->C 4 3478323 3478323 T C snp 696.77 0/1 99 60 29 31 0.52 intronic rs2699426 DOK7 AR NM_173660 exon4 c.13167+54T>C 0.556709 0.3849 Uncertain 4_3487099_A->G 4 3487099 3487099 A G snp 284.77 0/1 99 32 20 12 0.38 intronic rs28706421 DOK7 AR NM_173660 exon5 c.22163-166A>G 0.226038 0.0357 Uncertain 4_3487151_A->G 4 3487151 3487151 A G snp 2490.77 1/1 99 87 0 87 1.0 intronic rs916189 DOK7 AR NM_173660 exon5 c.22163-114A>G 0.811901 0.9226 Uncertain 4_3487196_T->C 4 3487196 3487196 T C snp 1312.77 0/1 99 122 64 58 0.48 intronic rs73080946 DOK7 AR NM_173660 exon5 c.22163-69T>C 0.106629 0.0347 Uncertain 4_3487237_A->G 4 3487237 3487237 A G snp 4155.77 1/1 99 151 0 151 1.0 intronic rs2006791 DOK7 AR NM_173660 exon5 c.22163-28A>G 0.781749 0.9226 0.712165 0.7589 0.9352 Uncertain 4_3491721_T->C 4 3491721 3491721 T C snp 206.84 1/1 18 6 0 6 1.0 intronic rs2699418 DOK7 AR NM_173660 exon6 c.26421+198T>C 0.806909 0.7956 Uncertain 4_3494450_C->- 4 3494450 3494450 C - indel 1833.73 1/1 99 49 0 49 1.0 intronic rs34230391 DOK7 AR NM_173660 exon7 c.29383-35delC 0.371206 0.5407 0.3783 0.5377 Uncertain 4_3494600_A->G 4 3494600 3494600 A G snp 2451.77 0/1 99 214 109 105 0.49 exonic rs6811423 DOK7 AR nonsynonymous SNV NM_173660 exon7 c.A887G p.Q296R 0.218051 0.504 0.155523 0.2685 0.5368 0.48 T 0.0 P -0.903 T 0.465 P 0.085 P CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_multiple_submitters\x2c_no_conflicts;CLNACC=RCV000116896.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 4_3494826_A->C 4 3494826 3494826 A C snp 1651.77 0/1 99 142 71 71 0.5 exonic rs6811856 DOK7 AR synonymous SNV NM_173660 exon7 c.A1113C p.S371S 0.216853 0.503 0.145642 0.3001 0.5379 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_multiple_submitters\x2c_no_conflicts;CLNACC=RCV000116884.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 4_3494847_G->A 4 3494847 3494847 G A snp 1853.77 0/1 99 156 76 80 0.51 exonic rs6831659 DOK7 AR synonymous SNV NM_173660 exon7 c.G1134A p.A378A 0.214856 0.505 0.128924 0.2981 0.5423 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_multiple_submitters\x2c_no_conflicts;CLNACC=RCV000116885.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 4_3494898_C->T 4 3494898 3494898 C T snp 2132.77 0/1 99 179 87 92 0.51 exonic rs6850908 DOK7 AR synonymous SNV NM_173660 exon7 c.C1185T p.Y395Y 0.219649 0.502 0.159775 0.2722 0.5326 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_multiple_submitters\x2c_no_conflicts;CLNACC=RCV000116887.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 4_3494956_C->T 4 3494956 3494956 C T snp 1811.77 0/1 99 153 77 76 0.5 exonic rs16844464 DOK7 AR nonsynonymous SNV NM_173660 exon7 c.C1243T p.P415S 0.08127 0.0397 0.063368 0.0589 0.0401 0.23 T 1 N -1.097 T 1.0 D 0.998 D CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_multiple_submitters\x2c_no_conflicts;CLNACC=RCV000116888.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 4_3495283_C->G 4 3495283 3495283 C G snp 780.77 0/1 99 84 48 36 0.43 UTR3 rs11733064 DOK7 AR 0.354233 0.1637 Uncertain 4_3498448_T->C 4 3498448 3498448 T C snp 4967.77 1/1 99 174 0 174 1.0 intergenic rs3135164 DOK7 AR 0.641573 0.9087 Uncertain 4_3498624_G->A 4 3498624 3498624 G A snp 1600.77 0/1 99 116 56 60 0.52 intergenic rs13130443 DOK7 AR 0.0998403 0.0347 0.1342 0.025 Uncertain 4_3501802_G->C 4 3501802 3501802 G C snp 195.77 0/1 99 9 3 6 0.67 intergenic rs10805009 DOK7 AR 0.576278 0.874 Uncertain 4_3501835_C->A 4 3501835 3501835 C A snp 940.77 1/1 69 27 0 27 1.0 intergenic rs2858035 DOK7 AR 0.627596 0.9067 Uncertain 4_3501849_T->C 4 3501849 3501849 T C snp 1000.77 1/1 72 33 0 33 1.0 intergenic rs2699409 DOK7 AR 0.73762 0.9127 Uncertain 4_3501873_T->C 4 3501873 3501873 T C snp 1565.77 1/1 99 57 0 57 1.0 intergenic rs2699408 DOK7 AR 0.623003 0.9087 Uncertain 4_3501924_A->G 4 3501924 3501924 A G snp 2536.77 1/1 99 92 0 92 1.0 intergenic rs2858036 DOK7 AR 0.627396 0.9087 Uncertain 4_3502163_A->G 4 3502163 3502163 A G snp 954.77 1/1 69 33 0 33 1.0 intergenic rs2858037 DOK7 AR 0.740216 0.9127 0.7725 0.9109 Uncertain 4_3502303_G->C 4 3502303 3502303 G C snp 152.77 0/1 99 12 6 6 0.5 intergenic rs2071700 DOK7 AR 0.405351 0.4038 Uncertain 4_3502386_C->T 4 3502386 3502386 C T snp 538.77 0/1 99 47 22 25 0.53 intergenic rs2071701 DOK7 AR 0.216454 0.505 0.2098 0.5606 Uncertain 4_3514689_T->C 4 3514689 3514689 T C snp 1032.77 0/1 99 108 58 50 0.46 UTR3 rs1800495 LRPAP1 AR 0.0527157 0.0347 0.036604 0.0623 0.0453 Uncertain 4_3514695_A->G 4 3514695 3514695 A G snp 1021.77 0/1 99 109 60 49 0.45 UTR3 rs6789 LRPAP1 AR 0.386382 0.4058 0.296986 0.3837 0.4343 Uncertain 4_3514938_A->G 4 3514938 3514938 A G snp 687.77 1/1 51 18 0 18 1.0 intronic rs1741553 LRPAP1 AR NM_002337 exon1 c.63+175A>G 0.762181 0.9147 Uncertain 4_3516448_T->C 4 3516448 3516448 T C snp 137.77 0/1 99 32 25 7 0.22 intronic rs2285088 LRPAP1 AR NM_002337 exon2 c.1778-30T>C 0.252796 0.5159 0.193295 0.2433 0.5260 Uncertain 4_3516689_T->C 4 3516689 3516689 T C snp 5448.77 1/1 99 193 2 191 0.99 intronic rs2515967 LRPAP1 AR NM_002337 exon2 c.1955+34T>C 0.992612 1 0.984392 0.9852 1 Uncertain 4_3516742_A->G 4 3516742 3516742 A G snp 2296.77 1/1 99 63 0 63 1.0 intronic rs1794442 LRPAP1 AR NM_002337 exon2 c.1955+87A>G 0.757388 0.9157 Uncertain 4_3517732_G->C 4 3517732 3517732 G C snp 1971.77 0/1 99 127 53 74 0.58 intronic rs1794444 LRPAP1 AR NM_002337 exon3 c.3142-110G>C 0.386182 0.4028 Uncertain 4_3521939_T->A 4 3521939 3521939 T A snp 792.77 0/1 99 62 30 32 0.52 intronic rs1741547 LRPAP1 AR NM_002337 exon6 c.7220+19T>A 0.409345 0.4097 0.317392 0.3767 0.4230 Uncertain 4_3526645_C->T 4 3526645 3526645 C T snp 2074.77 0/1 99 162 74 88 0.54 exonic rs11549516 LRPAP1 AR nonsynonymous SNV NM_002337 exon2 c.G338A p.R113H 0.0495208 0.0337 0.035368 0.0442 0.0325 0.18 T 1.000 D -1.125 T 0.22 T 0.119 T Pathogenic 4_3526786_C->T 4 3526786 3526786 C T snp 2100.77 0/1 99 168 83 85 0.51 intronic rs1800485 LRPAP1 AR NM_002337 exon7 c.12078+8C>T 0.214457 0.4911 0.161925 0.2240 0.4932 Uncertain 4_3589560_A->G 4 3589560 3589560 A G snp 167.77 0/1 99 19 13 6 0.32 ncRNA_intronic rs10937958 LINC00955 AU Uncertain 4_3589623_G->A 4 3589623 3589623 G A snp 858.77 0/1 99 94 57 37 0.39 ncRNA_exonic rs10937959 LINC00955 AU 0.5 0.5 Uncertain 4_3589689_C->A 4 3589689 3589689 C A snp 2371.77 0/1 99 223 122 101 0.45 ncRNA_exonic rs7657417 LINC00955 AU 0.5009 0.5 0 D 1.000 N -0.925 T Uncertain 4_3589720_A->- 4 3589720 3589720 A - indel 4501.73 0/1 99 250 124 126 0.5 ncRNA_exonic rs59190481 LINC00955 AU 0.436102 0.0675 0.6167 0.5 Uncertain 4_3589846_T->C 4 3589846 3589846 T C snp 2962.77 0/1 99 244 114 130 0.53 ncRNA_intronic rs7672828 LINC00955 AU Uncertain 4_3589990_C->T 4 3589990 3589990 C T snp 43.77 0/1 66 4 2 2 0.5 ncRNA_intronic rs7658013 LINC00955 AU Uncertain 4_3590496_G->T 4 3590496 3590496 G T snp 43.77 0/1 70 4 2 2 0.5 ncRNA_intronic rs73072424 LINC00955 AU Uncertain 4_3590537_G->C 4 3590537 3590537 G C snp 345.77 0/1 99 28 17 11 0.39 ncRNA_intronic rs73199384 LINC00955 AU Uncertain 4_3590549_G->A 4 3590549 3590549 G A snp 446.77 0/1 99 38 23 15 0.39 ncRNA_intronic rs73793633 LINC00955 AU Uncertain 4_3590577_G->A 4 3590577 3590577 G A snp 764.77 0/1 99 82 51 31 0.38 ncRNA_intronic rs73793634 LINC00955 AU Uncertain 4_3590588_A->C 4 3590588 3590588 A C snp 844.77 0/1 99 104 66 38 0.37 ncRNA_intronic rs73199385 LINC00955 AU Uncertain 4_3590683_T->G 4 3590683 3590683 T G snp 2725.77 0/1 99 250 138 112 0.45 ncRNA_exonic rs62272966 LINC00955 AU 0.5 0.5 Uncertain 4_3590711_G->T 4 3590711 3590711 G T snp 2538.77 0/1 99 248 139 109 0.44 ncRNA_exonic rs62272967 LINC00955 AU 0.5001 0.5 0 D 1 N -0.923 T Uncertain 4_3590730_G->A 4 3590730 3590730 G A snp 2524.77 0/1 99 244 134 110 0.45 ncRNA_exonic rs62272968 LINC00955 AU 0.5 0.5 0 D 1.000 A Uncertain 4_3590817_T->C 4 3590817 3590817 T C snp 2451.77 0/1 99 163 78 85 0.52 ncRNA_exonic rs62272969 LINC00955 AU 0.5 0.5 0 D 1 N -0.974 T Uncertain 4_3590824_ACAC->- 4 3590824 3590827 ACAC - indel 7416.73 ./1 99 163 0 163 1.0 ncRNA_exonic rs398063206 LINC00955 AU 0.5037 0.5455 Uncertain 4_3590824_AC->- 4 3590824 3590825 AC - indel 7416.73 ./1 99 163 0 163 1.0 ncRNA_exonic rs10609465 LINC00955 AU 0.911941 0.9861 0.4185 0.4343 Uncertain 4_3590878_C->T 4 3590878 3590878 C T snp 3382.77 0/1 99 250 115 135 0.54 ncRNA_exonic rs62272970 LINC00955 AU 0.4999 0.5 0 D 1 N -0.962 T Uncertain 4_3590911_A->C 4 3590911 3590911 A C snp 1003.77 0/1 99 250 198 52 0.21 ncRNA_exonic rs34447251 LINC00955 AU 0.4956 0.5 Uncertain 4_3591015_A->C 4 3591015 3591015 A C snp 3325.77 0/1 99 250 138 112 0.45 ncRNA_exonic rs62272971 LINC00955 AU 0.5 0.5 0 D 1 N -0.977 T Uncertain 4_3591049_C->T 4 3591049 3591049 C T snp 3060.77 0/1 99 250 137 113 0.45 ncRNA_exonic rs62272972 LINC00955 AU 0.5 0.5 Uncertain 4_3591069_C->T 4 3591069 3591069 C T snp 3510.77 0/1 99 250 125 125 0.5 ncRNA_exonic rs62272973 LINC00955 AU 0.5 0.5 0 D 1 N -0.975 T Uncertain 4_4190576_C->G 4 4190576 4190576 C G snp 184.77 0/1 99 199 137 62 0.31 exonic rs199742451 OTOP1 AU nonsynonymous SNV NM_177998 exon6 c.G1793C p.R598P 0.1125 0.1338 0 D 1 D -0.148 T 0.999 D 0.99 D Pathogenic 4_4190577_G->C 4 4190577 4190577 G C snp 174.77 0/1 99 199 138 61 0.31 exonic rs200368405 OTOP1 AU nonsynonymous SNV NM_177998 exon6 c.C1792G p.R598G 0.1118 0.1324 0 D 1 D -0.780 T 0.349 T 0.291 T Pathogenic 4_4190595_G->C 4 4190595 4190595 G C snp 172.77 0/1 99 218 155 63 0.29 exonic rs79218997 OTOP1 AU nonsynonymous SNV NM_177998 exon6 c.C1774G p.P592A 0.4709 0.4778 0 D 1 D -0.100 T 1.0 D 1.0 D Pathogenic 4_4228008_A->G 4 4228008 4228008 A G snp 147.77 0/1 99 13 8 5 0.38 intronic rs1811445 OTOP1 AU NM_177998 exon6 c.37659-180A>G 0.558906 0.4613 Uncertain 4_4228028_G->T 4 4228028 4228028 G T snp 171.77 0/1 99 20 14 6 0.3 intronic rs55839893 OTOP1 AU NM_177998 exon6 c.37659-160G>T 0.225439 0.1627 Uncertain 4_4228029_-->AAG 4 4228029 4228029 - AAG indel 1149.73 1/1 60 20 0 20 1.0 intronic rs36055674 OTOP1 AU NM_177998 exon6 c.37659-159insAAG 0.688898 0.6141 Uncertain 4_4238746_T->G 4 4238746 4238746 T G snp 1097.77 0/1 99 86 41 45 0.52 intronic rs57797443 TMEM128 AU 0.21845 0.2788 Uncertain 4_4238906_-->T 4 4238906 4238906 - T indel 653.73 0/1 99 74 38 36 0.49 intronic rs34548596 TMEM128 AU 0.214457 0.2788 Uncertain 4_4238922_A->G 4 4238922 4238922 A G snp 539.77 0/1 99 57 32 25 0.44 intronic rs12498280 TMEM128 AU 0.214457 0.2788 Uncertain 4_4239402_T->C 4 4239402 4239402 T C snp 143.77 0/1 99 9 4 5 0.56 intronic rs62286912 TMEM128 AU Uncertain 4_4239516_C->T 4 4239516 4239516 C T snp 678.77 0/1 99 95 46 49 0.52 intronic rs62286913 TMEM128 AU 0.433307 0.372 0.4993 0.4997 Uncertain 4_4239539_C->T 4 4239539 4239539 C T snp 664.77 0/1 99 108 61 47 0.44 intronic rs62286914 TMEM128 AU 0.1120 0.1182 Uncertain 4_4239587_G->T 4 4239587 4239587 G T snp 427.77 0/1 99 122 91 31 0.25 exonic rs62286915 TMEM128 AU synonymous SNV NM_001297551 exon4 c.C474A p.V158V 0.3754 0.3658 Uncertain 4_4241953_T->A 4 4241953 4241953 T A snp 67.77 0/1 96 13 8 5 0.38 intronic rs3817719 TMEM128 AU NM_001297552 exon3 c.2485-94T>A 0.32528 0.4365 Uncertain 4_4249297_C->T 4 4249297 4249297 C T snp 2053.77 0/1 99 172 85 87 0.51 intronic rs2916469 TMEM128 AU NM_032927 exon5 c.9765-30C>T 0.45647 0.4206 0.413886 0.4090 0.4408 Uncertain 4_4249300_T->C 4 4249300 4249300 T C snp 2095.77 0/1 99 179 90 89 0.5 intronic rs2916468 TMEM128 AU NM_032927 exon5 c.9765-27T>C 0.45647 0.4206 0.413117 0.4090 0.4407 Uncertain 4_4249414_A->G 4 4249414 4249414 A G snp 2552.77 0/1 99 243 128 115 0.47 UTR5 rs2980101 TMEM128 AU 0.456669 0.4206 0.297197 Uncertain 4_4249415_T->C 4 4249415 4249415 T C snp 2561.77 0/1 99 245 131 114 0.47 UTR5 rs2916467 TMEM128 AU 0.456669 0.4206 0.290188 Uncertain 4_4249483_C->T 4 4249483 4249483 C T snp 4106.77 1/1 99 149 0 149 1.0 UTR5 rs2916466 TMEM128 AU 0.851438 0.7639 Uncertain 4_4249484_A->C 4 4249484 4249484 A C snp 1508.77 0/1 99 147 83 64 0.44 UTR5 rs2916465 TMEM128 AU 0.45647 0.4206 Uncertain 4_4249855_G->A 4 4249855 4249855 G A snp 972.77 0/1 99 89 46 43 0.48 exonic rs2272747 TMEM128 AU synonymous SNV NM_001297551 exon1 c.C75T p.D25D 0.140974 0.251 0.1971 0.2798 Uncertain 4_4249909_C->T 4 4249909 4249909 C T snp 1773.77 0/1 99 179 97 82 0.46 exonic rs2272746 TMEM128 AU synonymous SNV NM_001297551 exon1 c.G21A p.R7R 0.328674 0.4216 0.4566 0.5130 Uncertain 4_4249974_C->A 4 4249974 4249974 C A snp 2263.77 0/1 99 227 117 110 0.48 upstream rs2272745 TMEM128 AU 0.461262 0.4206 0.5431 0.5172 Uncertain 4_4250133_G->C 4 4250133 4250133 G C snp 124.77 0/1 99 14 8 6 0.43 upstream rs2272744 TMEM128 AU 0.460064 0.4196 Uncertain 4_4275976_A->C 4 4275976 4275976 A C snp 310.77 0/1 54 14 3 11 0.79 intronic rs11723469 LYAR AU NM_001145725 exon4 c.6478-117A>C 0.534944 0.5942 Uncertain 4_4275986_A->C 4 4275986 4275986 A C snp 348.77 0/1 99 22 9 13 0.59 intronic rs11723471 LYAR AU NM_001145725 exon4 c.6478-107A>C 0.397764 0.3452 Uncertain 4_4276021_C->G 4 4276021 4276021 C G snp 667.77 0/1 99 58 29 29 0.5 intronic rs12639962 LYAR AU NM_001145725 exon4 c.6478-72C>G 0.359625 0.2738 Uncertain 4_4276132_T->C 4 4276132 4276132 T C snp 4726.77 1/1 99 171 0 171 1.0 exonic rs7376390 LYAR AU nonsynonymous SNV NM_001145725 exon7 c.A794G p.H265R 0.999601 1 0.999462 0.9998 0.9997 0.5 T 0.0 P -0.988 T 0.0 T 0.0 T Pathogenic 4_4281570_C->T 4 4281570 4281570 C T snp 304.77 0/1 99 13 4 9 0.69 intronic rs12644991 LYAR AU NM_001145725 exon6 c.11861+94C>T 0.401358 0.5506 Uncertain 4_4283676_G->A 4 4283676 4283676 G A snp 3113.77 0/1 99 231 109 122 0.53 intronic rs2272738 LYAR AU NM_001145725 exon7 c.14009+52G>A 0.173522 0.247 0.200633 0.2519 0.2455 Uncertain 4_4285221_A->C 4 4285221 4285221 A C snp 1518.77 1/1 99 49 0 49 1.0 intronic rs2980214 LYAR AU NM_001145725 exon8 c.15732-126A>C 0.841653 0.7808 Uncertain 4_4285265_T->A 4 4285265 4285265 T A snp 1386.77 0/1 99 105 52 53 0.5 intronic rs4688927 LYAR AU NM_001145725 exon8 c.15732-82T>A 0.40635 0.5496 Uncertain 4_4285545_A->C 4 4285545 4285545 A C snp 458.77 0/1 99 18 5 13 0.72 intronic rs2916439 LYAR AU NM_001145725 exon8 c.15907+23A>C 0.406749 0.5496 Uncertain 4_4285587_C->A 4 4285587 4285587 C A snp 56.74 1/1 6 2 0 2 1.0 intronic rs4688928 LYAR AU NM_001145725 exon8 c.15907+65C>A 0.406949 0.5496 Uncertain 4_4285588_C->G 4 4285588 4285588 C G snp 56.74 1/1 6 2 0 2 1.0 intronic rs4688929 LYAR AU NM_001145725 exon8 c.15907+66C>G 0.407348 0.5506 Uncertain 4_4301506_G->T 4 4301506 4301506 G T snp 34.77 0/1 31 3 1 2 0.67 intronic rs199925805 ZBTB49 AU Uncertain 4_4301537_T->A 4 4301537 4301537 T A snp 158.77 0/1 92 9 4 5 0.56 intronic rs60953649 ZBTB49 AU 0.386781 0.2927 Uncertain 4_4301967_T->G 4 4301967 4301967 T G snp 56.74 1/1 6 2 0 2 1.0 intronic rs73195806 ZBTB49 AU NM_145291 exon2 c.152+143T>G 0.294329 0.2014 Uncertain 4_4304337_C->T 4 4304337 4304337 C T snp 4556.77 1/1 99 159 0 159 1.0 exonic rs2916382 ZBTB49 AU synonymous SNV NM_145291 exon3 c.C774T p.A258A 0.799521 0.7629 0.818699 0.8263 0.7703 Uncertain 4_4304522_A->C 4 4304522 4304522 A C snp 1940.77 0/1 99 178 95 83 0.47 exonic rs2920217 ZBTB49 AU nonsynonymous SNV NM_145291 exon3 c.A959C p.Y320S 0.202676 0.247 0.246425 0.2635 0.2429 0.48 T 0.000 P -0.932 T 0.0 T 0.0 T Pathogenic 4_4317777_C->T 4 4317777 4317777 C T snp 472.77 0/1 99 27 13 14 0.52 intronic rs1470264 ZBTB49 AU NM_145291 exon7 c.16025+80C>T 0.191294 0.2421 Uncertain 4_4322275_A->G 4 4322275 4322275 A G snp 215.77 0/1 99 20 12 8 0.4 intronic rs873923 ZBTB49 AU NM_145291 exon8 c.20694-91A>G 0.550719 0.8026 Uncertain 4_4389233_C->A 4 4389233 4389233 C A snp 36.77 0/1 65 5 3 2 0.4 intronic NSG1 AU Uncertain 4_4389255_G->C 4 4389255 4389255 G C snp 135.77 0/1 99 13 8 5 0.38 intronic NSG1 AU Uncertain 4_4393068_T->C 4 4393068 4393068 T C snp 405.77 0/1 99 28 14 14 0.5 intronic rs3792686 NSG1 AU NM_001287763 exon4 c.3845-133T>C 0.38119 0.4673 Uncertain 4_4422558_A->C 4 4422558 4422558 A C snp 2914.77 0/1 99 224 104 120 0.54 intronic rs34931639 STX18 AU NM_016930 exon2 c.830-32A>C 0.204073 0.2996 0.164078 0.2087 0.3143 Uncertain 4_4425422_-->AG 4 4425422 4425422 - AG indel 1603.73 1/1 99 36 0 36 1.0 intronic rs10675705 STX18 AU NM_016930 exon3 c.3554+108insAG Uncertain 4_4861675_G->A 4 4861675 4861675 G A snp 652.77 0/1 99 31 8 23 0.74 exonic MSX1 AU,AD nonsynonymous SNV NM_002448 exon1 c.G49A p.E17K 0.13 T 1 D 0.508 D 0.9 T 0.38 P Pathogenic 4_4862126_GGGGGCCGGGT->- 4 4862126 4862136 GGGGGCCGGGT - indel 3090.73 1/1 75 45 0 45 1.0 intronic rs149370601 MSX1 AU,AD NM_002448 exon1 c.469+31_469+41delGGGGGCCGGGT 0.722644 0.7421 0.665285 0.6628 0.7305 Uncertain 4_4864026_G->T 4 4864026 4864026 G T snp 629.77 1/1 48 17 0 17 1.0 intronic rs4075 MSX1 AU,AD NM_002448 exon2 c.2801-401G>T 0.368211 0.5982 Uncertain 4_5016841_G->T 4 5016841 5016841 G T snp 877.77 1/1 66 28 0 28 1.0 UTR3 rs6847131 CYTL1 AU 0.992212 1 0.989543 0.9973 1 Uncertain 4_5017149_-->TCATTTC 4 5017149 5017149 - TCATTTC indel 1773.73 1/1 72 24 0 24 1.0 intronic rs61026221 CYTL1 AU NM_018659 exon1 c.84+188insTCATTTC Uncertain 4_5017150_C->A 4 5017150 5017150 C A snp 394.77 1/1 30 11 0 11 1.0 intronic rs79641850 CYTL1 AU NM_018659 exon1 c.84+189C>A Uncertain 4_5018702_G->A 4 5018702 5018702 G A snp 4031.77 1/1 99 134 0 134 1.0 intronic rs11724788 CYTL1 AU NM_018659 exon2 c.1814+11G>A 0.673722 0.9643 0.608488 0.7372 0.9721 Uncertain 4_5128641_A->G 4 5128641 5128641 A G snp 543.77 0/1 99 40 19 21 0.53 intronic rs11726208 STK32B AU NM_018401 exon2 c.88041-12990A>G 0.167332 0.1488 Uncertain 4_5128650_T->C 4 5128650 5128650 T C snp 1454.77 1/1 99 45 0 45 1.0 intronic rs895679 STK32B AU NM_018401 exon2 c.88041-12981T>C 0.947085 1 Uncertain 4_5128726_A->G 4 5128726 5128726 A G snp 2127.77 0/1 99 176 87 89 0.51 intronic rs17882862 STK32B AU NM_018401 exon2 c.88041-12905A>G 0.196885 0.1319 Uncertain 4_5170214_C->T 4 5170214 5170214 C T snp 240.77 0/1 99 22 14 8 0.36 intronic rs3749567 STK32B AU NM_018401 exon3 c.116587+37C>T 0.242013 0.3581 0.245348 0.2610 0.3558 Uncertain 4_5418383_G->A 4 5418383 5418383 G A snp 152.77 0/1 99 11 6 5 0.45 intronic rs2301858 STK32B AU NM_018401 exon6 c.364981-188G>A 0.453275 0.3889 Uncertain 4_5418485_C->T 4 5418485 5418485 C T snp 1730.77 0/1 99 137 70 67 0.49 intronic rs2301857 STK32B AU NM_018401 exon6 c.364981-86C>T 0.204673 0.4425 Uncertain 4_5418539_C->T 4 5418539 5418539 C T snp 5234.77 1/1 99 198 1 197 0.99 intronic rs168985 STK32B AU NM_018401 exon6 c.364981-32C>T 0.833466 0.8988 0.812932 0.8041 0.9030 Uncertain 4_5448319_T->C 4 5448319 5448319 T C snp 1526.77 0/1 99 113 58 55 0.49 intronic rs3733183 STK32B AU NM_018401 exon7 c.394809-80T>C 0.163139 0.4296 Uncertain 4_5448377_T->A 4 5448377 5448377 T A snp 2240.77 0/1 99 185 93 92 0.5 intronic rs73211201 STK32B AU NM_018401 exon7 c.394809-22T>A 0.0425319 0.0585 0.026449 0.0389 0.0606 Uncertain 4_5448429_A->G 4 5448429 5448429 A G snp 5405.77 1/1 99 218 0 218 1.0 exonic rs3733182 STK32B AU nonsynonymous SNV NM_018401 exon7 c.A592G p.R198G 0.25599 0.5437 0.132247 0.1814 0.5241 0.41 T 0.000 P -0.931 T 0.0 T 0.0 T Pathogenic 4_5448565_T->G 4 5448565 5448565 T G snp 285.77 0/1 99 26 16 10 0.38 intronic rs17464347 STK32B AU NM_018401 exon7 c.394913+62T>G 0.0421326 0.0585 Uncertain 4_5469810_T->C 4 5469810 5469810 T C snp 1224.77 0/1 99 104 50 54 0.52 intronic rs2301855 STK32B AU NM_018401 exon11 c.416207+13T>C 0.280152 0.1012 0.408196 0.3689 0.1004 Uncertain 4_5469916_G->A 4 5469916 5469916 G A snp 475.77 0/1 99 32 15 17 0.53 intronic rs41268643 STK32B AU NM_018401 exon11 c.416207+119G>A 0.382188 0.1012 Uncertain 4_5500511_A->C 4 5500511 5500511 A C snp 775.77 1/1 57 23 0 23 1.0 intronic rs13116133 STK32B AU NM_018401 exon12 c.447081-160A>C 0.995407 1 Uncertain 4_5527115_-->T 4 5527115 5527115 - T indel 224.73 0/1 99 52 36 16 0.31 ncRNA_exonic rs11426893 LINC01587 AU 0.195288 0.2302 0.2207 0.3422 Uncertain 4_5544739_G->A 4 5544739 5544739 G A snp 443.77 0/1 99 32 17 15 0.47 intergenic rs10937650 LINC01587 AU 0.173922 0.2292 Uncertain 4_5570221_G->A 4 5570221 5570221 G A snp 276.77 0/1 99 27 15 12 0.44 exonic rs12511039 EVC2 AR,AD synonymous SNV NM_147127 exon20 c.C3507T p.H1169H 0.440895 0.876 0.256385 0.4847 0.8718 Uncertain 4_5577884_T->C 4 5577884 5577884 T C snp 969.77 1/1 72 30 0 30 1.0 intronic rs6840591 EVC2 AR,AD NM_001166136 exon5 c.13392-82T>C 0.958666 0.9385 Uncertain 4_5624370_C->G 4 5624370 5624370 C G snp 1869.77 0/1 99 140 66 74 0.53 exonic rs143491078 EVC2 AR,AD nonsynonymous SNV NM_147127 exon14 c.G2395C p.D799H 0.00399361 0.0159 0.0025 0.0130 0.19 T 1 N -0.955 T 0.947 T 0.339 D Pathogenic 4_5624371_C->T 4 5624371 5624371 C T snp 1814.77 0/1 99 139 65 74 0.53 exonic rs147173201 EVC2 AR,AD synonymous SNV NM_147127 exon14 c.G2394A p.R798R 0.00399361 0.0159 0.0025 0.0130 Uncertain 4_5630290_C->T 4 5630290 5630290 C T snp 600.77 0/1 99 39 13 26 0.67 exonic rs186197620 EVC2 AR,AD nonsynonymous SNV NM_147127 exon12 c.G1882A p.E628K 0.000998403 0.005 0.000077 0.0010 0.0132 0.12 T 0.999 D -0.001 T 1.0 D 0.967 D Pathogenic 4_5642161_A->G 4 5642161 5642161 A G snp 252.77 0/1 99 18 9 9 0.5 intronic rs751841 EVC2 AR,AD NM_001166136 exon13 c.77666-79A>G 0.577676 0.4782 Uncertain 4_5686924_G->A 4 5686924 5686924 G A snp 1059.77 0/1 99 82 42 40 0.49 intronic rs957727 EVC2 AR,AD NM_001166136 exon17 c.122522-172G>A 0.656949 0.753 Uncertain 4_5686967_C->T 4 5686967 5686967 C T snp 1939.77 0/1 99 150 75 75 0.5 intronic rs957726 EVC2 AR,AD NM_001166136 exon17 c.122522-129C>T 0.656949 0.753 Uncertain 4_5687263_A->G 4 5687263 5687263 A G snp 561.77 0/1 99 30 13 17 0.57 intronic rs998092 EVC2 AR,AD NM_001166136 exon17 c.122632+57A>G 0.65655 0.753 Uncertain 4_5690902_T->C 4 5690902 5690902 T C snp 2709.77 0/1 99 213 93 120 0.56 exonic rs4689278 EVC2 AR,AD nonsynonymous SNV NM_147127 exon5 c.A688G p.S230G 0.265176 0.4028 0.210903 0.2367 0.3907 0.37 T 0.001 P -1.048 T 0.081 T 0.028 T Pathogenic 4_5693112_C->T 4 5693112 5693112 C T snp 277.77 0/1 81 14 3 11 0.79 intronic rs35705473 EVC2 AR,AD NM_001166136 exon19 c.128486+52C>T 0.273762 0.3442 0.215333 0.3073 0.2961 Uncertain 4_5696383_T->C 4 5696383 5696383 T C snp 74.77 0/1 99 6 3 3 0.5 intronic rs11936402 EVC2 AR,AD NM_001166136 exon20 c.131654+155T>C 0.266374 0.3065 Uncertain 4_5733068_G->T 4 5733068 5733068 G T snp 1337.77 0/1 99 86 32 54 0.63 intronic rs1871586 EVC AR,AD NM_153717 exon4 c.20044-83G>T 0.275759 0.3165 Uncertain 4_5743422_T->C 4 5743422 5743422 T C snp 101.77 0/1 99 23 17 6 0.26 intronic rs111419400 EVC AR,AD NM_153717 exon6 c.30335-20T>C 0.00119808 0.006 0.0008 0.0104 Uncertain 4_5743509_C->T 4 5743509 5743509 C T snp 399.77 1/1 30 14 0 14 1.0 exonic rs6446393 EVC AR,AD synonymous SNV NM_153717 exon6 c.C769T p.L257L 0.966653 0.999 0.954902 0.9456 0.9994 Uncertain 4_5743512_T->C 4 5743512 5743512 T C snp 397.77 1/1 30 14 0 14 1.0 exonic rs6414624 EVC AR,AD nonsynonymous SNV NM_153717 exon6 c.T772C p.Y258H 0.744808 0.9048 0.706942 0.7951 0.9116 0.44 T 0.0 P -1.006 T 0.009 T 0.016 T Pathogenic 4_5746916_C->T 4 5746916 5746916 C T snp 901.77 1/1 66 28 0 28 1.0 intronic rs4689313 EVC AR,AD NM_153717 exon7 c.33823-14C>T 0.590056 0.3532 0.5842 0.3393 Uncertain 4_5747078_A->G 4 5747078 5747078 A G snp 2463.77 1/1 99 92 0 92 1.0 intronic rs2286342 EVC AR,AD NM_153717 exon7 c.33961+10A>G 0.593051 0.3532 0.700215 0.6295 0.3415 Uncertain 4_5747131_C->A 4 5747131 5747131 C A snp 1213.77 1/1 90 50 0 50 1.0 intronic rs13145958 EVC AR,AD NM_153717 exon7 c.33961+63C>A 0.491613 0.3502 Uncertain 4_5750003_A->G 4 5750003 5750003 A G snp 4247.77 1/1 99 144 1 143 0.99 exonic rs33929747 EVC AR,AD synonymous SNV NM_153717 exon8 c.A1068G p.L356L 0.217452 0.2044 0.273797 0.2925 0.1814 Uncertain 4_5754396_G->C 4 5754396 5754396 G C snp 170.9 1/1 15 5 0 5 1.0 intronic rs6810769 EVC AR,AD NM_153717 exon9 c.41455-166G>C 0.842452 0.8224 Uncertain 4_5754544_T->C 4 5754544 5754544 T C snp 4498.77 1/1 99 157 0 157 1.0 intronic rs899691 EVC AR,AD NM_153717 exon9 c.41455-18T>C 0.321486 0.3234 0.373654 0.4000 0.3082 Uncertain 4_5755542_C->A 4 5755542 5755542 C A snp 1588.77 1/1 99 61 0 61 1.0 exonic rs2302075 EVC AR,AD nonsynonymous SNV NM_153717 exon10 c.C1346A p.T449K 0.844649 0.8254 0.852606 0.7965 0.8089 1 T 0.000 P -0.970 T 0.0 T 0.0 T CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000153204.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 4_5785442_G->A 4 5785442 5785442 G A snp 3754.77 1/1 99 135 0 135 1.0 exonic rs1383180 EVC AR,AD nonsynonymous SNV NM_153717 exon12 c.G1727A p.R576Q 0.301518 0.3254 0.308012 0.3472 0.3176 0.13 T 1.000 P -0.928 T 1.0 D 0.995 D Pathogenic 4_5798627_G->A 4 5798627 5798627 G A snp 715.77 0/1 99 57 29 28 0.49 intronic rs2291152 EVC AR,AD NM_153717 exon14 c.85641-121G>A 0.243011 0.0298 Uncertain 4_5803669_T->C 4 5803669 5803669 T C snp 647.77 0/1 99 46 20 26 0.57 intronic rs1031919 EVC AR,AD NM_153717 exon16 c.90569-7T>C 0.690495 0.5724 0.721744 0.7270 0.5587 Uncertain 4_5803904_C->T 4 5803904 5803904 C T snp 707.77 0/1 99 80 48 32 0.4 intronic rs1031918 EVC AR,AD NM_153717 exon16 c.90714+83C>T 0.664337 0.5724 Uncertain 4_5811441_C->T 4 5811441 5811441 C T snp 622.77 0/1 99 36 13 23 0.64 intronic rs3733185 EVC AR,AD NM_153717 exon19 c.98231+103C>T 0.0882588 0.0288 Uncertain 4_5812195_A->G 4 5812195 5812195 A G snp 1468.77 1/1 99 43 0 43 1.0 intronic rs2279250 EVC AR,AD NM_153717 exon20 c.99070+18A>G 0.690695 0.5665 0.717970 0.7454 0.6025 Uncertain 4_5812566_A->G 4 5812566 5812566 A G snp 1031.77 0/1 99 93 49 44 0.47 intronic rs2279247 EVC AR,AD NM_153717 exon21 c.99572-113A>G 0.180312 0.0288 Uncertain 4_5812778_G->A 4 5812778 5812778 G A snp 1109.77 0/1 99 90 44 46 0.51 UTR3 rs2291151 EVC AR,AD 0.533746 0.3353 0.612794 0.6099 0.3883 Uncertain 4_5830414_T->C 4 5830414 5830414 T C snp 4562.77 1/1 99 160 0 160 1.0 intronic rs6818391 CRMP1 AU NM_001313 exon3 c.6909+19T>C 0.966853 1 0.949177 0.9453 0.9997 Uncertain 4_5837871_A->G 4 5837871 5837871 A G snp 678.77 0/1 99 42 19 23 0.55 intronic rs3815264 CRMP1 AU NM_001313 exon4 c.14326+59A>G 0.513578 0.625 Uncertain 4_5838513_C->G 4 5838513 5838513 C G snp 2714.77 0/1 99 250 142 108 0.43 exonic rs12331 CRMP1 AU synonymous SNV NM_001014809 exon10 c.G1431C p.T477T 0.588658 0.6002 0.581116 0.4794 0.5467 Uncertain 4_5841350_A->G 4 5841350 5841350 A G snp 370.77 0/1 99 61 42 19 0.31 exonic rs16837723 CRMP1 AU synonymous SNV NM_001014809 exon9 c.T1209C p.H403H 0.298323 0.4762 0.225281 0.2003 0.4366 Uncertain 4_5841423_-->AAAC 4 5841423 5841423 - AAAC indel 579.73 0/1 99 43 31 12 0.28 intronic rs35087184 CRMP1 AU NM_001313 exon6 c.17919+18insAAAC 0.576677 0.6617 0.555778 0.4942 0.6022 Uncertain 4_5863032_G->A 4 5863032 5863032 G A snp 1730.77 1/1 99 58 0 58 1.0 intronic rs13130069 CRMP1 AU NM_001313 exon12 c.39451+95G>A 0.408147 0.7649 Uncertain 4_5925186_G->A 4 5925186 5925186 G A snp 627.77 1/1 48 19 0 19 1.0 upstream rs4348041 MIR378D1 AU 0.747604 0.8512 Uncertain 4_5975538_G->A 4 5975538 5975538 G A snp 3198.81 1/1 99 111 0 111 1.0 intergenic rs16837960 MIR378D1 AU 0.522963 0.6994 0.430494 0.4844 0.7288 0.12 T 0.0 P -0.952 T 0.0 T 0.0 T Uncertain 4_5977414_C->T 4 5977414 5977414 C T snp 237.77 0/1 97 11 3 8 0.73 intergenic MIR378D1 AU Uncertain 4_5977440_T->C 4 5977440 5977440 T C snp 376.77 0/1 99 23 11 12 0.52 intergenic rs568518210 MIR378D1 AU 0.000599042 0.001 Uncertain 4_5977462_C->T 4 5977462 5977462 C T snp 1116.77 1/1 81 36 0 36 1.0 intergenic rs4689291 MIR378D1 AU 0.338458 0.6647 Uncertain 4_5977553_T->C 4 5977553 5977553 T C snp 4096.77 1/1 99 141 0 141 1.0 intergenic rs4689290 MIR378D1 AU 0.339457 0.6647 Uncertain 4_5977566_C->A 4 5977566 5977566 C A snp 4653.77 1/1 99 163 0 163 1.0 intergenic rs4689289 MIR378D1 AU 0.643171 0.7143 0.595707 Uncertain 4_5990110_C->A 4 5990110 5990110 C A snp 7196.77 1/1 99 249 0 249 1.0 intergenic rs4689287 MIR378D1 AU 0.373602 0.6637 0.288175 0.3649 0.6886 0.18 T 0.000 P -0.952 T Uncertain 4_5990339_G->A 4 5990339 5990339 G A snp 3807.77 1/1 99 130 0 130 1.0 intergenic rs6845455 MIR378D1 AU 0.698283 0.9196 0.5958 0.9405 0.31 T 0.0 P -1.049 T Uncertain 4_5990551_G->A 4 5990551 5990551 G A snp 2366.77 0/1 99 166 73 93 0.56 intergenic rs58136927 MIR378D1 AU 0.323682 0.6369 0.2509 0.6414 Uncertain 4_5990599_T->C 4 5990599 5990599 T C snp 4511.77 1/1 99 150 0 150 1.0 intergenic rs751240 MIR378D1 AU 0.962061 0.999 0.9471 1 Uncertain 4_5990791_A->G 4 5990791 5990791 A G snp 7593.77 1/1 99 250 0 250 1.0 intergenic rs2016083 MIR378D1 AU 0.72524 0.9196 0.6236 0.945 Uncertain 4_5991384_T->C 4 5991384 5991384 T C snp 7462.77 1/1 99 249 0 249 1.0 intergenic rs4234711 MIR378D1 AU 0.738019 0.9196 0.6262 0.945 1 T 0.0 P -0.973 T Uncertain 4_5991476_G->A 4 5991476 5991476 G A snp 5342.77 1/1 99 178 0 178 1.0 intergenic rs4266238 MIR378D1 AU 0.653155 0.9147 0.5783 0.9417 0.08 T 0.0 P -1.048 T Uncertain 4_6050759_T->G 4 6050759 6050759 T G snp 580.77 0/1 99 54 26 28 0.52 intronic rs60586285 JAKMIP1 AU NM_001099433 exon6 c.22695+110T>G 0.264577 0.5893 Uncertain 4_6114420_G->T 4 6114420 6114420 G T snp 2202.77 0/1 99 217 117 100 0.46 intronic rs1543965 JAKMIP1 AU NM_144720 exon12 c.58747-28G>T 0.43131 0.6081 0.150085 0.4775 0.6035 Uncertain 4_6114421_C->A 4 6114421 6114421 C A snp 2237.77 0/1 99 218 121 97 0.44 intronic rs1609743 JAKMIP1 AU NM_144720 exon12 c.58747-27C>A 0.43131 0.6081 0.148701 0.4779 0.6033 Uncertain 4_6114422_C->A 4 6114422 6114422 C A snp 2297.77 0/1 99 219 119 100 0.46 intronic rs1543966 JAKMIP1 AU NM_144720 exon12 c.58747-26C>A 0.43131 0.6081 0.153083 0.4777 0.6033 Uncertain 4_6279047_C->T 4 6279047 6279047 C T snp 1188.77 1/1 87 37 0 37 1.0 intronic rs10937714 WFS1 AR,AD 0.850639 0.9107 Uncertain 4_6290594_T->C 4 6290594 6290594 T C snp 379.77 1/1 30 10 0 10 1.0 intronic rs4688989 WFS1 AR,AD NM_001145853 exon4 c.11531-119T>C 0.748203 0.9077 Uncertain 4_6291003_C->G 4 6291003 6291003 C G snp 401.77 1/1 30 13 0 13 1.0 intronic rs4689394 WFS1 AR,AD NM_001145853 exon4 c.11676+145C>G 0.733826 0.9077 Uncertain 4_6292758_G->A 4 6292758 6292758 G A snp 334.78 1/1 27 9 0 9 1.0 intronic rs5018646 WFS1 AR,AD NM_001145853 exon5 c.13741-165G>A 0.342252 0.4534 Uncertain 4_6292799_A->C 4 6292799 6292799 A C snp 1159.77 1/1 87 33 0 33 1.0 intronic rs5018647 WFS1 AR,AD NM_001145853 exon5 c.13741-124A>C 0.730232 0.9077 Uncertain 4_6292818_C->G 4 6292818 6292818 C G snp 1689.77 1/1 99 49 0 49 1.0 intronic rs5018648 WFS1 AR,AD NM_001145853 exon5 c.13741-105C>G 0.730431 0.9077 Uncertain 4_6292909_C->T 4 6292909 6292909 C T snp 5324.77 1/1 99 200 0 200 1.0 intronic rs9998519 WFS1 AR,AD NM_001145853 exon5 c.13741-14C>T 0.715056 0.8909 0.616331 0.6513 0.9227 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_multiple_submitters\x2c_no_conflicts;CLNACC=RCV000038663.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 4_6292915_A->G 4 6292915 6292915 A G snp 5653.77 1/1 99 215 0 215 1.0 intronic rs10010131 WFS1 AR,AD NM_001145853 exon5 c.13741-8A>G 0.728834 0.9038 0.625404 0.6555 0.9348 CLINSIG=other;CLNDBN=Diabetes_mellitus\x2c_noninsulin-dependent\x2c_association_with;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000004785.4;CLNDSDB=.;CLNDSDBID=. Uncertain 4_6293446_T->C 4 6293446 6293446 T C snp 269.8 1/1 21 8 0 8 1.0 intronic rs13101355 WFS1 AR,AD NM_001145853 exon6 c.14461-197T>C 0.729034 0.9038 Uncertain 4_6293474_A->G 4 6293474 6293474 A G snp 789.77 1/1 60 21 0 21 1.0 intronic rs13147655 WFS1 AR,AD NM_001145853 exon6 c.14461-169A>G 0.728834 0.9028 Uncertain 4_6293696_C->G 4 6293696 6293696 C G snp 2664.77 1/1 99 100 0 100 1.0 exonic rs1801213 WFS1 AR,AD synonymous SNV NM_006005 exon6 c.C684G p.R228R 0.75639 0.9038 0.678060 0.7212 0.9366 1.000 P -1.034 T Likely benign 4_6293838_A->G 4 6293838 6293838 A G snp 93.28 1/1 9 3 0 3 1.0 intronic rs11729672 WFS1 AR,AD NM_001145853 exon6 c.14542+114A>G 0.728235 0.9038 Uncertain 4_6302519_G->A 4 6302519 6302519 G A snp 7475.77 1/1 99 250 0 250 1.0 exonic rs1801212 WFS1 AR,AD nonsynonymous SNV NM_006005 exon8 c.G997A p.V333I 0.884385 0.995 0.799323 0.7818 0.9979 0.92 T 0.000 P -0.946 T 0.001 T 0.0 T CLINSIG=non-pathogenic,non-pathogenic;CLNDBN=not_specified,not_specified;CLNREVSTAT=criteria_provided\x2c_multiple_submitters\x2c_no_conflicts,criteria_provided\x2c_single_submitter;CLNACC=RCV000038668.6,RCV000155337.1;CLNDSDB=MedGen,MedGen;CLNDSDBID=CN169374,CN169374 ID=CM115388;DIS=Wolframin variant;TAG=DFP;PUB=21726277 DFP Pathogenic 4_6302707_C->T 4 6302707 6302707 C T snp 7939.77 1/1 99 249 0 249 1.0 exonic rs1801206 WFS1 AR,AD synonymous SNV NM_006005 exon8 c.C1185T p.V395V 0.641573 0.9038 0.553052 0.6245 0.9358 ID=CM021362;DIS=Diabetes, type 1, association with;TAG=DP;PUB=12107816 DP Uncertain 4_6302757_T->C 4 6302757 6302757 T C snp 3345.77 0/1 99 250 126 124 0.5 exonic rs144951440 WFS1 AR,AD nonsynonymous SNV NM_006005 exon8 c.T1235C p.V412A 0.00139776 0.0069 0.0009 0.0118 0.03 T 1.000 D 0.450 D 0.981 D 0.591 D ID=CM138387;DIS=Sensorineural hearing loss, nonsyndromic;TAG=DM;PUB=23990876 DM Pathogenic 4_6303022_C->T 4 6303022 6303022 C T snp 6643.77 1/1 99 224 0 224 1.0 exonic rs1801214 WFS1 AR,AD synonymous SNV NM_006005 exon8 c.C1500T p.N500N 0.729433 0.9077 0.632324 0.6595 0.9441 Uncertain 4_6303248_G->A 4 6303248 6303248 G A snp 2721.77 0/1 99 250 138 112 0.45 exonic rs1805069 WFS1 AR,AD nonsynonymous SNV NM_006005 exon8 c.G1726A p.G576S 0.0223642 0.0694 0.006459 0.0089 0.0668 0.06 T 1 D -0.682 T 0.882 T 0.404 P CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=criteria_provided\x2c_multiple_submitters\x2c_no_conflicts|criteria_provided\x2c_single_submitter;CLNACC=RCV000038643.3|RCV000126321.1;CLNDSDB=MedGen|MedGen;CLNDSDBID=CN169374|CN221809 ID=CM032678;DIS=Wolframin variant;TAG=FP;PUB=12565131 FP Pathogenic 4_6303354_G->A 4 6303354 6303354 G A snp 7495.77 1/1 99 250 2 248 0.99 exonic rs734312 WFS1 AR,AD nonsynonymous SNV NM_006005 exon8 c.G1832A p.R611H 0.469249 0.8105 0.401199 0.5367 0.8363 0.1 T 0.999 P -0.912 T 0.146 T 0.04 T ID=CM000447;DIS=Diabetes, type 1, association with;TAG=DP;PUB=10679252 DP Pathogenic 4_6303955_G->A 4 6303955 6303955 G A snp 6922.77 1/1 99 226 0 226 1.0 exonic rs1046314 WFS1 AR,AD synonymous SNV NM_006005 exon8 c.G2433A p.K811K 0.653155 0.9038 0.565893 0.6294 0.9364 ID=CM021365;DIS=Diabetes, type 1, association with;TAG=DP;PUB=12107816 DP Uncertain 4_6304087_A->G 4 6304087 6304087 A G snp 5405.77 1/1 99 190 0 190 1.0 exonic rs1046316 WFS1 AR,AD synonymous SNV NM_006005 exon8 c.A2565G p.S855S 0.779952 0.9038 0.711748 0.7228 0.9368 ID=CM021366;DIS=Diabetes, type 1, association with;TAG=DP;PUB=12107816 DP Uncertain 4_6304242_T->C 4 6304242 6304242 T C snp 1432.77 1/1 99 42 0 42 1.0 UTR3 rs1046317 WFS1 AR,AD 0.783746 0.9077 0.717822 0.7247 0.9459 Uncertain 4_6304286_C->T 4 6304286 6304286 C T snp 338.78 1/1 27 9 0 9 1.0 UTR3 rs1046319 WFS1 AR,AD 0.848043 0.995 Uncertain 4_6325018_A->T 4 6325018 6325018 A T snp 1956.77 1/1 99 60 0 60 1.0 UTR3 rs3796402 PPP2R2C AU 0.677716 0.9395 0.565893 0.6398 0.9197 Uncertain 4_6325086_G->A 4 6325086 6325086 G A snp 3935.77 1/1 99 140 1 139 0.99 exonic rs3796403 PPP2R2C AU synonymous SNV NM_001206994 exon10 c.C1266T p.I422I 0.653754 0.9385 0.544133 0.6319 0.9167 Uncertain 4_6335186_C->T 4 6335186 6335186 C T snp 431.77 0/1 99 37 18 19 0.51 intronic rs4689405 PPP2R2C AU NM_181876 exon3 c.10260-102C>T 0.767572 0.7083 Uncertain 4_6374189_A->G 4 6374189 6374189 A G snp 1451.77 1/1 99 48 0 48 1.0 intronic rs6837903 PPP2R2C AU NM_181876 exon5 c.49221-60A>G 0.936302 1 Uncertain 4_6374230_-->A 4 6374230 6374230 - A indel 4449.73 1/1 99 106 0 106 1.0 intronic rs35520578 PPP2R2C AU NM_181876 exon5 c.49221-19insA 0.211861 0.4048 0.587366 0.7379 0.9907 Uncertain 4_6374468_T->C 4 6374468 6374468 T C snp 827.77 0/1 99 58 26 32 0.55 intronic rs12511721 PPP2R2C AU NM_181876 exon5 c.49399+41T>C 0.347444 0.3611 0.304475 0.3210 0.3581 Uncertain 4_6374537_G->A 4 6374537 6374537 G A snp 215.77 0/1 99 11 4 7 0.64 intronic rs79608622 PPP2R2C AU NM_181876 exon5 c.49399+110G>A 0.0511182 0.13 Uncertain 4_6377530_C->G 4 6377530 6377530 C G snp 888.77 1/1 63 37 0 37 1.0 intronic rs4688997 PPP2R2C AU NM_181876 exon6 c.52517-15C>G 0.71905 0.9881 0.642165 0.7448 0.9909 Uncertain 4_6377534_A->G 4 6377534 6377534 A G snp 856.77 1/1 60 39 0 39 1.0 intronic rs4688998 PPP2R2C AU NM_181876 exon6 c.52517-11A>G 0.906749 1 0.888359 0.9488 0.9999 Uncertain 4_6377713_G->C 4 6377713 6377713 G C snp 1048.77 1/1 75 39 0 39 1.0 intronic rs4234738 PPP2R2C AU NM_181876 exon6 c.52630+55G>C 0.923722 1 Uncertain 4_6385312_C->T 4 6385312 6385312 C T snp 218.84 1/1 18 6 0 6 1.0 intronic rs7694129 PPP2R2C AU NM_181876 exon9 c.58569+1715C>T 0.858227 0.999 Uncertain 4_6415558_C->A 4 6415558 6415558 C A snp 1111.77 0/1 99 64 25 39 0.61 intronic rs4689437 PPP2R2C AU NM_001206996 exon9 c.90601-71C>A 0.272364 0.1786 Uncertain 4_6415559_C->G 4 6415559 6415559 C G snp 1087.77 0/1 99 65 25 40 0.62 intronic rs4689438 PPP2R2C AU NM_001206996 exon9 c.90601-70C>G 0.272364 0.1786 Uncertain 4_6415585_T->C 4 6415585 6415585 T C snp 1565.77 0/1 99 110 45 65 0.59 intronic rs10213664 PPP2R2C AU NM_001206996 exon9 c.90601-44T>C 0.295927 0.1786 0.2931 0.17 Uncertain 4_6415618_G->A 4 6415618 6415618 G A snp 2134.77 0/1 99 155 63 92 0.59 intronic rs4689000 PPP2R2C AU NM_001206996 exon9 c.90601-11G>A 0.272963 0.1786 0.2654 0.17 Uncertain 4_6578487_A->G 4 6578487 6578487 A G snp 1612.77 0/1 99 143 71 72 0.5 intronic rs4689485 MAN2B2 AU NM_001292038 exon2 c.1514+36A>G 0.821086 0.8661 0.803245 0.8351 0.8545 Uncertain 4_6594827_A->G 4 6594827 6594827 A G snp 7189.77 1/1 99 248 0 248 1.0 intronic rs10937747 MAN2B2 AU NM_001292038 exon6 c.17962-72A>G 0.92492 0.999 Uncertain 4_6594947_A->C 4 6594947 6594947 A C snp 7632.77 1/1 99 248 0 248 1.0 exonic rs2301796 MAN2B2 AU nonsynonymous SNV NM_001292038 exon6 c.A728C p.Q243P 0.433906 0.6141 0.386898 0.4649 0.6430 0.31 T 0.0 P -0.969 T 0.0 T 0.0 T Pathogenic 4_6596476_G->A 4 6596476 6596476 G A snp 256.77 0/1 99 19 9 10 0.53 intronic rs2301794 MAN2B2 AU NM_001292038 exon7 c.19522+17G>A 0.29393 0.4643 0.265724 0.3970 0.5323 Uncertain 4_6596515_C->T 4 6596515 6596515 C T snp 248.8 1/1 21 7 0 7 1.0 intronic rs4234761 MAN2B2 AU NM_001292038 exon7 c.19522+56C>T 0.978035 1 Uncertain 4_6600012_A->G 4 6600012 6600012 A G snp 4660.77 1/1 99 160 0 160 1.0 exonic rs2301790 MAN2B2 AU nonsynonymous SNV NM_001292038 exon9 c.A1183G p.M395V 0.499401 0.6141 0.464478 0.4834 0.6468 0.84 T 0.000 P -0.939 T 0.0 T 0.0 T Pathogenic 4_6602255_A->G 4 6602255 6602255 A G snp 1744.77 1/1 99 56 0 56 1.0 intronic rs2301789 MAN2B2 AU NM_001292038 exon10 c.25412-94A>G 0.519369 0.6161 Uncertain 4_6602516_A->G 4 6602516 6602516 A G snp 1291.77 1/1 93 42 0 42 1.0 intronic rs12639813 MAN2B2 AU NM_001292038 exon10 c.25546+33A>G 0.520966 0.6161 0.490850 0.4894 0.6442 Uncertain 4_6606864_A->G 4 6606864 6606864 A G snp 6735.77 1/1 99 245 1 244 1.0 exonic rs2301788 MAN2B2 AU nonsynonymous SNV NM_001292038 exon11 c.A1469G p.N490S 0.535743 0.6151 0.504921 0.5202 0.6423 0.4 T 0.0 P -0.962 T 0.0 T 0.001 T Pathogenic 4_6610668_C->T 4 6610668 6610668 C T snp 37.77 0/1 66 6 4 2 0.33 intronic rs11721430 MAN2B2 AU NM_001292038 exon12 c.33896-165C>T 0.0966454 0.13 Uncertain 4_6611813_T->C 4 6611813 6611813 T C snp 1476.77 0/1 99 102 47 55 0.54 intronic rs4689487 MAN2B2 AU NM_001292038 exon13 c.34840+36T>C 0.238219 0.1438 0.239582 0.2076 0.1537 Uncertain 4_6619004_A->G 4 6619004 6619004 A G snp 50.74 1/1 6 2 0 2 1.0 intronic rs4234764 MAN2B2 AU NM_001292038 exon17 c.42169-102A>G 0.815096 0.995 Uncertain 4_6619052_A->G 4 6619052 6619052 A G snp 560.77 1/1 42 15 0 15 1.0 intronic rs4689488 MAN2B2 AU NM_001292038 exon17 c.42169-54A>G 0.806909 0.9881 Uncertain 4_6619165_A->G 4 6619165 6619165 A G snp 3700.77 1/1 99 135 0 135 1.0 exonic rs4689489 MAN2B2 AU synonymous SNV NM_001292038 exon17 c.A2607G p.L869L 0.980032 1 0.983623 0.9924 1 1.000 P -1.004 T Likely benign 4_6619204_G->A 4 6619204 6619204 G A snp 1893.77 0/1 99 177 94 83 0.47 exonic rs4689490 MAN2B2 AU synonymous SNV NM_001292038 exon17 c.G2646A p.V882V 0.688498 0.9038 0.702368 0.8099 0.8958 Uncertain 4_6619378_T->C 4 6619378 6619378 T C snp 513.77 0/1 99 43 23 20 0.47 intronic rs7698546 MAN2B2 AU NM_001292038 exon17 c.42282+159T>C 0.0928514 0.0833 Uncertain 4_6623032_G->T 4 6623032 6623032 G T snp 6763.77 1/1 99 249 0 249 1.0 UTR3 rs4234768 MAN2B2 AU 0.94349 0.998 0.948639 0.9814 0.9988 Uncertain 4_6675780_T->C 4 6675780 6675780 T C snp 56.74 1/1 6 2 0 2 1.0 upstream rs4689031 LOC93622 AU 0.710463 0.5933 Uncertain 4_6698500_-->TGAGCCTGAA 4 6698500 6698500 - TGAGCCTGAA indel 739.8 1/1 18 6 0 6 1.0 intronic rs113431497 S100P AU NM_005980 exon2 c.2960-119insTGAGCCTGAA Uncertain 4_6698667_T->C 4 6698667 6698667 T C snp 2897.77 1/1 99 104 0 104 1.0 exonic rs11734898 S100P AU synonymous SNV NM_005980 exon2 c.T186C p.D62D 0.999601 1 0.999539 0.9998 0.9998 Uncertain 4_6698706_A->C 4 6698706 6698706 A C snp 3180.76 1/1 99 117 0 117 1.0 exonic rs11733989 S100P AU synonymous SNV NM_005980 exon2 c.A225C p.I75I 0.984026 1 0.983854 0.9957 1 Uncertain 4_6925009_A->C 4 6925009 6925009 A C snp 580.77 0/1 99 35 14 21 0.6 intronic rs41516949 TBC1D14 AU 0.259185 0.2659 Uncertain 4_6955922_C->G 4 6955922 6955922 C G snp 244.77 0/1 99 19 10 9 0.47 intronic rs4484301 TBC1D14 AU NM_020773 exon3 c.43914-13108C>G 0.465855 0.7034 Uncertain 4_6956059_T->C 4 6956059 6956059 T C snp 2078.77 0/1 99 199 106 93 0.47 intronic rs11732887 TBC1D14 AU NM_020773 exon3 c.43914-12971T>C 0.299521 0.2708 0.2897 0.2551 0.13 T 0.998 P -0.901 T Uncertain 4_6956134_T->C 4 6956134 6956134 T C snp 5199.77 1/1 99 191 0 191 1.0 intronic rs11732898 TBC1D14 AU NM_020773 exon3 c.43914-12896T>C 0.776158 0.9722 Uncertain 4_6968942_C->T 4 6968942 6968942 C T snp 1736.77 1/1 99 53 0 53 1.0 intronic rs9291126 TBC1D14 AU NM_020773 exon3 c.43914-88C>T 0.872404 0.9702 Uncertain 4_7002803_C->T 4 7002803 7002803 C T snp 517.77 1/1 39 21 0 21 1.0 intronic rs2301817 TBC1D14 AU NM_020773 exon7 c.77755-68C>T 0.853634 0.9772 Uncertain 4_7012627_A->G 4 7012627 7012627 A G snp 418.77 0/1 99 30 16 14 0.47 intronic rs117342724 TBC1D14 AU NM_020773 exon11 c.87392+119A>G 0.00119808 0.006 Uncertain 4_7027041_C->T 4 7027041 7027041 C T snp 1640.77 1/1 99 49 0 49 1.0 intronic rs6834102 TBC1D14 AU NM_020773 exon13 c.101873+52C>T 0.884585 0.9772 0.854510 0.8565 0.9744 Uncertain 4_7043343_T->A 4 7043343 7043343 T A snp 3668.77 0/1 99 250 119 131 0.52 exonic rs149133190 CCDC96 AU nonsynonymous SNV NM_153376 exon1 c.A1323T p.Q441H 0.00199681 0.0099 0.0006 0.0081 0.14 T 0.998 N -0.921 T 0.981 D 0.813 D Pathogenic 4_7044357_A->G 4 7044357 7044357 A G snp 468.77 1/1 36 15 0 15 1.0 exonic rs871133 CCDC96 AU synonymous SNV NM_153376 exon1 c.T309C p.V103V 0.965056 1 0.966707 0.9724 1 Uncertain 4_7044380_C->T 4 7044380 7044380 C T snp 269.77 0/1 99 23 12 11 0.48 exonic rs871134 CCDC96 AU nonsynonymous SNV NM_153376 exon1 c.G286A p.E96K 0.511382 0.6429 0.621266 0.6598 0.7248 0.57 T 0.002 P -0.925 T 0.052 T 0.004 T Pathogenic 4_7044600_G->A 4 7044600 7044600 G A snp 1109.77 0/1 99 106 53 53 0.5 exonic rs2359010 CCDC96 AU synonymous SNV NM_153376 exon1 c.C66T p.A22A 0.195288 0.3849 0.132724 0.2738 0.4066 Uncertain 4_7064003_-->C 4 7064003 7064003 - C indel 1908.73 1/1 99 59 0 59 1.0 intronic rs11422620 GRPEL1 AU NM_025196 exon2 c.1523-108insC Uncertain 4_7064214_T->G 4 7064214 7064214 T G snp 806.77 1/1 60 25 0 25 1.0 intronic rs9291128 GRPEL1 AU NM_025196 exon2 c.1605+21T>G 0.953474 0.9643 0.959474 0.8957 0.9775 Uncertain 4_7064243_C->T 4 7064243 7064243 C T snp 99.28 1/1 9 4 0 4 1.0 intronic rs6812318 GRPEL1 AU NM_025196 exon2 c.1605+50C>T 0.668331 0.7212 0.7399 0.6349 Uncertain 4_7064277_C->T 4 7064277 7064277 C T snp 48.74 1/1 6 2 0 2 1.0 intronic rs4689585 GRPEL1 AU NM_025196 exon2 c.1605+84C>T 0.672724 0.7391 Uncertain 4_7066052_T->G 4 7066052 7066052 T G snp 1491.77 1/1 99 49 0 49 1.0 intronic rs2359011 GRPEL1 AU NM_025196 exon3 c.3362+102T>G 0.669728 0.7421 Uncertain 4_7066053_A->C 4 7066053 7066053 A C snp 1361.77 1/1 76 44 1 43 0.98 intronic rs2359012 GRPEL1 AU NM_025196 exon3 c.3362+103A>C 0.669529 0.7421 Uncertain 4_7069606_G->A 4 7069606 7069606 G A snp 846.77 1/1 63 27 0 27 1.0 intronic rs2276969 GRPEL1 AU NM_025196 exon4 c.7109-91G>A 0.670927 0.7381 Uncertain 4_7069804_C->A 4 7069804 7069804 C A snp 7373.77 1/1 99 249 1 248 1.0 upstream rs3822270 GRPEL1 AU 0.670527 0.7381 0.703159 0.7684 0.7323 Uncertain 4_7069901_T->C 4 7069901 7069901 T C snp 6507.77 1/1 99 225 0 225 1.0 upstream rs3822269 GRPEL1 AU 0.678514 0.7381 Uncertain 4_7397802_C->T 4 7397802 7397802 C T snp 123.78 0/1 27 5 1 4 0.8 intronic rs181201936 SORCS2 AU NM_020777 exon2 c.203641-212C>T 0.00139776 0.0069 Uncertain 4_7434988_A->G 4 7434988 7434988 A G snp 712.77 0/1 99 105 73 32 0.3 UTR3 rs4318651 PSAPL1 AU 0.41853 0.5506 Uncertain 4_7435009_G->A 4 7435009 7435009 G A snp 1851.77 0/1 99 122 42 80 0.66 UTR3 rs59409649 PSAPL1 AU 0.102835 0.0764 0.120391 0.1570 0.075 Uncertain 4_7435058_C->T 4 7435058 7435058 C T snp 1921.77 0/1 99 158 78 80 0.51 exonic rs60816800 PSAPL1 AU nonsynonymous SNV NM_001085382 exon1 c.G1549A p.A517T 0.103035 0.0764 0.131554 0.1869 0.0887 0.68 T 0.0 P -1.073 T 0.0 T 0.0 T Pathogenic 4_7435379_A->G 4 7435379 7435379 A G snp 7377.77 1/1 99 249 0 249 1.0 exonic rs4689746 PSAPL1 AU synonymous SNV NM_001085382 exon1 c.T1228C p.L410L 0.988019 1 0.989090 0.9969 1 Uncertain 4_7435486_G->T 4 7435486 7435486 G T snp 2788.77 0/1 99 250 135 115 0.46 exonic rs61738677 PSAPL1 AU nonsynonymous SNV NM_001085382 exon1 c.C1121A p.A374E 0.0766773 0.0734 0.100316 0.1107 0.0631 0.73 T 0.0 P -1.083 T 0.001 T 0.001 T Pathogenic 4_7435721_C->T 4 7435721 7435721 C T snp 3608.77 0/1 99 250 116 134 0.54 exonic rs6850206 PSAPL1 AU nonsynonymous SNV NM_001085382 exon1 c.G886A p.V296M 0.129193 0.0764 0.171620 0.1673 0.0635 0.1 T 0.163 P -0.934 T 0.999 D 0.977 D Pathogenic 4_7436073_C->T 4 7436073 7436073 C T snp 2961.77 0/1 99 248 122 126 0.51 exonic rs61740031 PSAPL1 AU synonymous SNV NM_001085382 exon1 c.G534A p.A178A 0.127196 0.0764 0.170087 0.1827 0.0728 Uncertain 4_7436239_C->T 4 7436239 7436239 C T snp 2360.77 0/1 99 166 68 98 0.59 exonic rs56402179 PSAPL1 AU nonsynonymous SNV NM_001085382 exon1 c.G368A p.R123H 0.103435 0.0764 0.139743 0.1620 0.0641 0.15 T 0.0 P -1.121 T 0.0 T 0.0 T Pathogenic 4_7461826_-->CCA 4 7461826 7461826 - CCA indel 10673.7 1/1 99 178 0 178 1.0 ncRNA_exonic rs10655902 MIR4274 AU 0.8995 0.6765 Uncertain 4_7461915_T->A 4 7461915 7461915 T A snp 3152.77 1/1 99 110 0 110 1.0 intronic rs12498272 SORCS2 AU NM_020777 exon2 c.203709+63833T>A 0.805711 0.7619 Uncertain 4_7655855_C->T 4 7655855 7655855 C T snp 4422.77 1/1 99 163 0 163 1.0 splicing rs2285789 SORCS2 AU NM_020777 exon5 c.461487-5C>T 0.552316 0.8938 0.545751 0.6440 0.8604 Pathogenic 4_7665945_G->A 4 7665945 7665945 G A snp 50.74 1/1 6 2 0 2 1.0 intronic rs6810814 SORCS2 AU NM_020777 exon7 c.471706-134G>A 0.770367 0.9137 Uncertain 4_7668618_A->G 4 7668618 7668618 A G snp 90.28 1/1 9 3 0 3 1.0 intronic rs1541383 SORCS2 AU NM_020777 exon8 c.474477-232A>G 0.983626 1 Uncertain 4_7684641_C->A 4 7684641 7684641 C A snp 182.77 0/1 99 18 11 7 0.39 intronic rs4689820 SORCS2 AU NM_020777 exon10 c.490243+25C>A 0.619409 0.6954 0.623547 0.6233 0.6666 Uncertain 4_7684661_C->A 4 7684661 7684661 C A snp 71.77 0/1 99 9 6 3 0.33 intronic rs4689821 SORCS2 AU NM_020777 exon10 c.490243+45C>A 0.642572 0.7014 0.099935 0.6243 0.6635 Uncertain 4_7684662_T->C 4 7684662 7684662 T C snp 71.77 0/1 99 9 6 3 0.33 intronic rs4689822 SORCS2 AU NM_020777 exon10 c.490243+46T>C 0.642572 0.7014 0.085049 0.6239 0.6618 Uncertain 4_7691193_G->C 4 7691193 7691193 G C snp 4025.77 1/1 99 141 0 141 1.0 intronic rs929264 SORCS2 AU NM_020777 exon11 c.496839-19G>C 0.755192 0.9097 0.665749 0.7327 0.9273 Uncertain 4_7691419_A->G 4 7691419 7691419 A G snp 815.77 0/1 99 63 31 32 0.51 intronic rs2285785 SORCS2 AU NM_020777 exon11 c.496942+104A>G 0.388179 0.6538 Uncertain 4_7705127_G->A 4 7705127 7705127 G A snp 3053.77 0/1 99 231 98 133 0.58 intronic rs150873167 SORCS2 AU NM_020777 exon13 c.510725+29G>A 0.00319489 0.0159 0.0015 0.0216 Uncertain 4_7714490_T->C 4 7714490 7714490 T C snp 3262.77 1/1 99 113 0 113 1.0 exonic rs4689833 SORCS2 AU synonymous SNV NM_020777 exon15 c.T1899C p.D633D 0.846046 0.999 0.744423 0.7929 0.9991 Uncertain 4_7714640_C->G 4 7714640 7714640 C G snp 739.77 1/1 54 22 0 22 1.0 intronic rs2285783 SORCS2 AU NM_020777 exon15 c.520207+60C>G 0.299321 0.5208 Uncertain 4_7716205_T->G 4 7716205 7716205 T G snp 170.9 1/1 15 5 0 5 1.0 intronic rs3733600 SORCS2 AU NM_020777 exon16 c.521727+105T>G 0.321885 0.6052 Uncertain 4_7716932_T->C 4 7716932 7716932 T C snp 7073.77 1/1 99 250 0 250 1.0 exonic rs6816604 SORCS2 AU nonsynonymous SNV NM_020777 exon17 c.T2146C p.S716P 0.938898 0.999 0.915113 0.9512 0.9995 0.36 T 0.0 P -1.053 T 0.0 T 0.0 T Pathogenic 4_7725693_C->T 4 7725693 7725693 C T snp 1200.77 0/1 99 75 30 45 0.6 intronic rs2285778 SORCS2 AU NM_020777 exon19 c.531237+83C>T 0.480032 0.5685 Uncertain 4_7726653_G->A 4 7726653 7726653 G A snp 54.74 1/1 6 2 0 2 1.0 intronic SORCS2 AU NM_020777 exon20 c.532507-227G>A Uncertain 4_7726658_A->G 4 7726658 7726658 A G snp 56.74 1/1 6 2 0 2 1.0 intronic rs375257617 SORCS2 AU NM_020777 exon20 c.532507-222A>G Uncertain 4_7728759_G->A 4 7728759 7728759 G A snp 798.77 0/1 99 62 26 36 0.58 intronic rs2301744 SORCS2 AU NM_020777 exon21 c.534257+129G>A 0.265575 0.2659 Uncertain 4_7731310_G->A 4 7731310 7731310 G A snp 669.77 0/1 99 55 28 27 0.49 splicing rs1544402 SORCS2 AU NM_020777 exon23 c.536940-3G>A 0.334265 0.3601 0.324253 0.4601 0.4576 Pathogenic 4_7731560_T->A 4 7731560 7731560 T A snp 573.77 0/1 99 50 27 23 0.46 intronic rs1076226 SORCS2 AU NM_020777 exon23 c.537066+121T>A 0.348243 0.3978 Uncertain 4_7731603_C->T 4 7731603 7731603 C T snp 370.77 0/1 99 33 18 15 0.45 intronic rs138497910 SORCS2 AU NM_020777 exon23 c.537066+164C>T 0.00219649 0.0099 Uncertain 4_7736455_G->A 4 7736455 7736455 G A snp 1363.77 0/1 99 106 48 58 0.55 intronic rs6843811 SORCS2 AU NM_020777 exon25 c.541728+354G>A 0.485623 0.4415 Uncertain 4_7738730_A->C 4 7738730 7738730 A C snp 955.77 0/1 99 83 50 33 0.4 intronic rs6840685 SORCS2 AU NM_020777 exon26 c.544422-65A>C 0.441693 0.4881 Uncertain 4_7741851_A->G 4 7741851 7741851 A G snp 1125.77 0/1 99 114 64 50 0.44 intronic rs12501485 SORCS2 AU NM_020777 exon27 c.547553-75A>G 0.293331 0.3452 Uncertain 4_7765495_G->T 4 7765495 7765495 G T snp 771.77 0/1 99 88 49 39 0.44 exonic rs2240053 AFAP1 AU synonymous SNV NM_198595 exon17 c.C2190A p.T730T 0.241414 0.3899 0.120740 0.1726 0.3970 Uncertain 4_7765566_C->G 4 7765566 7765566 C G snp 974.77 0/1 99 91 44 47 0.52 ncRNA_intronic rs730420 AFAP1-AS1 AU 0.129992 0.2073 0.077355 0.1255 0.1938 Uncertain 4_7765617_C->T 4 7765617 7765617 C T snp 710.77 0/1 99 60 29 31 0.52 ncRNA_intronic rs55817815 AFAP1-AS1 AU 0.242612 0.3899 Uncertain 4_7770723_G->T 4 7770723 7770723 G T snp 3898.77 1/1 99 151 0 151 1.0 exonic rs2285761 AFAP1 AU synonymous SNV NM_198595 exon16 c.C2014A p.R672R 0.370208 0.6567 0.207981 0.2799 0.7069 Uncertain 4_7774610_C->T 4 7774610 7774610 C T snp 985.77 0/1 99 79 42 37 0.47 exonic rs2276967 AFAP1 AU synonymous SNV NM_198595 exon15 c.G1938A p.A646A 0.180511 0.4117 0.072428 0.1331 0.4341 Uncertain 4_7780344_G->A 4 7780344 7780344 G A snp 34.77 0/1 63 7 5 2 0.29 ncRNA_exonic rs2269878 AFAP1-AS1 AU 0.203674 0.4613 Uncertain 4_7780712_C->G 4 7780712 7780712 C G snp 46.74 1/1 6 2 0 2 1.0 intronic rs2269877 AFAP1 AU NM_001134647 exon5 c.15112+109C>G 0.16234 0.2669 Uncertain 4_7783163_G->A 4 7783163 7783163 G A snp 2259.77 1/1 99 84 0 84 1.0 exonic rs28542374 AFAP1 AU synonymous SNV NM_001134647 exon13 c.C1722T p.S574S 0.625399 0.8036 0.599650 0.6275 0.7981 Uncertain 4_7783286_G->A 4 7783286 7783286 G A snp 1624.77 0/1 99 116 51 65 0.56 exonic rs10516189 AFAP1 AU synonymous SNV NM_001134647 exon13 c.C1599T p.N533N 0.205072 0.4613 0.079939 0.1479 0.4581 Uncertain 4_7787899_A->G 4 7787899 7787899 A G snp 178.77 0/1 99 29 20 9 0.31 intronic rs16841246 AFAP1 AU NM_001134647 exon7 c.22429-21A>G 0.20627 0.4633 0.082885 0.1411 0.4716 Uncertain 4_7820727_T->A 4 7820727 7820727 T A snp 383.77 1/1 30 11 0 11 1.0 intronic rs4447865 AFAP1 AU NM_001134647 exon12 c.55311-75T>A 0.854233 0.881 Uncertain 4_7821134_T->C 4 7821134 7821134 T C snp 37.77 0/1 66 6 4 2 0.33 intronic rs4447866 AFAP1 AU NM_001134647 exon12 c.55407+236T>C 0.674321 0.3958 Uncertain 4_7845067_G->A 4 7845067 7845067 G A snp 647.77 0/1 99 97 67 30 0.31 exonic rs62289296 AFAP1 AU synonymous SNV NM_001134647 exon5 c.C345T p.S115S 0.146765 0.2292 0.073428 0.1405 0.2595 Uncertain 4_7845123_G->C 4 7845123 7845123 G C snp 412.77 0/1 99 46 29 17 0.37 intronic rs62289297 AFAP1 AU NM_001134647 exon14 c.79586+46G>C 0.15016 0.2391 0.072408 0.1349 0.2671 Uncertain 4_7985392_C->G 4 7985392 7985392 C G snp 1187.77 0/1 99 92 47 45 0.49 intronic rs4696933 ABLIM2 AU NM_001130087 exon3 c.16565+111C>G 0.342851 0.38 Uncertain 4_8009737_C->T 4 8009737 8009737 C T snp 922.77 0/1 99 75 38 37 0.49 UTR3 rs16841552 ABLIM2 AU 0.165535 0.3145 0.064513 0.1081 0.3108 Uncertain 4_8009759_G->A 4 8009759 8009759 G A snp 1282.77 0/1 99 95 46 49 0.52 UTR3 rs17180256 ABLIM2 AU 0.769369 0.7976 0.731654 0.7204 0.7931 Uncertain 4_8031313_T->A 4 8031313 8031313 T A snp 56.74 1/1 6 4 2 2 0.5 intronic ABLIM2 AU NM_001130087 exon6 c.62666-69T>A Uncertain 4_8031471_A->G 4 8031471 8031471 A G snp 1622.77 0/1 99 134 64 70 0.52 exonic rs2385904 ABLIM2 AU synonymous SNV NM_001286688 exon7 c.T384C p.C128C 0.733626 0.7808 0.750527 0.7400 0.8010 Uncertain 4_8031590_T->G 4 8031590 8031590 T G snp 1073.77 0/1 99 68 28 40 0.59 intronic rs11942146 ABLIM2 AU NM_001130087 exon6 c.62787+87T>G 0.328674 0.6141 Uncertain 4_8062474_G->T 4 8062474 8062474 G T snp 42.77 0/1 31 3 1 2 0.67 intronic rs36100888 ABLIM2 AU NM_001130087 exon11 c.93977-219G>T 0.435104 0.8185 Uncertain 4_8062478_C->T 4 8062478 8062478 C T snp 37.77 0/1 66 4 2 2 0.5 intronic rs4696744 ABLIM2 AU NM_001130087 exon11 c.93977-215C>T 0.243011 0.0972 Uncertain 4_8062638_A->C 4 8062638 8062638 A C snp 2044.77 1/1 99 67 0 67 1.0 intronic rs6853485 ABLIM2 AU NM_001130087 exon11 c.93977-55A>C 0.916733 0.9931 0.830924 Uncertain 4_8062640_C->T 4 8062640 8062640 C T snp 745.77 0/1 99 70 37 33 0.47 intronic rs73216473 ABLIM2 AU NM_001130087 exon11 c.93977-53C>T 0.0589058 0.0873 0.026938 Uncertain 4_8062689_T->C 4 8062689 8062689 T C snp 2329.77 1/1 99 79 0 79 1.0 splicing rs6811028 ABLIM2 AU NM_001130087 exon11 c.93977-4T>C 0.917332 0.9931 0.838530 0.8753 0.9949 Pathogenic 4_8062690_G->A 4 8062690 8062690 G A snp 2321.77 1/1 99 79 0 79 1.0 splicing rs10938683 ABLIM2 AU NM_001130087 exon11 c.93977-3G>A 0.704673 0.9206 0.578207 0.6953 0.9447 Pathogenic 4_8062871_A->C 4 8062871 8062871 A C snp 579.77 1/1 45 16 0 16 1.0 intronic rs6853901 ABLIM2 AU NM_001130087 exon11 c.94065+90A>C 0.831669 0.9931 Uncertain 4_8090028_C->T 4 8090028 8090028 C T snp 1849.77 0/1 99 166 83 83 0.5 intronic rs11722016 ABLIM2 AU NM_001130087 exon14 c.121295+17C>T 0.176917 0.0754 0.272890 0.2742 0.0723 Uncertain 4_8090063_G->A 4 8090063 8090063 G A snp 1380.77 0/1 99 126 68 58 0.46 intronic rs117015277 ABLIM2 AU NM_001130087 exon14 c.121295+52G>A 0.0211661 0.0655 0.003714 Uncertain 4_8129382_A->G 4 8129382 8129382 A G snp 1734.77 1/1 99 51 0 51 1.0 intronic rs13143332 ABLIM2 AU NM_001130087 exon16 c.139648+21018A>G 0.5 0.6438 Uncertain 4_8211624_C->T 4 8211624 8211624 C T snp 106.77 0/1 99 16 11 5 0.31 intronic rs1712316 SH3TC1 AU NM_018986 exon3 c.4628+75C>T 0.732827 0.7073 Uncertain 4_8214636_T->C 4 8214636 8214636 T C snp 194.84 1/1 18 7 0 7 1.0 intronic rs1712287 SH3TC1 AU NM_018986 exon4 c.7634+81T>C 0.865615 0.998 Uncertain 4_8216099_G->A 4 8216099 8216099 G A snp 388.77 0/1 99 27 13 14 0.52 intronic rs2291069 SH3TC1 AU NM_018986 exon5 c.9280-102G>A 0.482628 0.7569 Uncertain 4_8216768_G->A 4 8216768 8216768 G A snp 880.77 0/1 99 84 48 36 0.43 intronic rs78567670 SH3TC1 AU NM_018986 exon5 c.9386+461G>A 0.00658946 0.0268 Uncertain 4_8221058_G->A 4 8221058 8221058 G A snp 4345.77 1/1 99 162 0 162 1.0 splicing rs4696782 SH3TC1 AU NM_018986 exon9 c.14140-3G>A 0.684305 0.7808 0.628712 0.6783 0.8221 Pathogenic 4_8228627_G->C 4 8228627 8228627 G C snp 1052.77 1/1 78 32 0 32 1.0 intronic rs1678299 SH3TC1 AU NM_018986 exon12 c.21785-79G>C 0.489816 0.5278 Uncertain 4_8228632_A->C 4 8228632 8228632 A C snp 1137.77 1/1 84 35 0 35 1.0 intronic rs1678300 SH3TC1 AU NM_018986 exon12 c.21785-74A>C 0.967851 1 Uncertain 4_8228731_T->C 4 8228731 8228731 T C snp 3816.77 1/1 99 148 0 148 1.0 exonic rs1281145 SH3TC1 AU nonsynonymous SNV NM_018986 exon12 c.T1310C p.L437P 0.969249 1 0.968476 0.9906 0.9999 0.94 T 0.0 P -0.982 T 0.0 T 0.001 T Pathogenic 4_8228894_T->C 4 8228894 8228894 T C snp 4130.77 1/1 99 140 0 140 1.0 exonic rs1292647 SH3TC1 AU synonymous SNV NM_018986 exon12 c.T1473C p.D491D 0.965455 0.999 0.968466 0.9910 0.9999 Uncertain 4_8228948_T->C 4 8228948 8228948 T C snp 3698.77 1/1 99 137 0 137 1.0 exonic rs55642964 SH3TC1 AU synonymous SNV NM_018986 exon12 c.T1527C p.P509P 0.229633 0.3274 0.244643 0.3206 0.3693 Uncertain 4_8229218_A->G 4 8229218 8229218 A G snp 3658.77 1/1 99 137 0 137 1.0 exonic rs1281146 SH3TC1 AU synonymous SNV NM_018986 exon12 c.A1797G p.L599L 0.981829 1 0.986590 0.9954 1 Uncertain 4_8229326_T->C 4 8229326 8229326 T C snp 3223.52 1/1 99 116 0 116 1.0 exonic rs1281147 SH3TC1 AU synonymous SNV NM_018986 exon12 c.T1905C p.P635P 0.964457 1 0.970495 0.9904 1 Uncertain 4_8229713_A->G 4 8229713 8229713 A G snp 4195.77 1/1 99 153 0 153 1.0 exonic rs1281148 SH3TC1 AU synonymous SNV NM_018986 exon12 c.A2292G p.Q764Q 0.516573 0.5139 0.614864 0.6508 0.4727 Uncertain 4_8229774_C->T 4 8229774 8229774 C T snp 4280.77 1/1 99 159 1 158 0.99 exonic rs1281149 SH3TC1 AU nonsynonymous SNV NM_018986 exon12 c.C2353T p.R785C 0.475639 0.5129 0.588742 0.6396 0.4729 0.28 T 0.0 P -0.974 T 0.017 T 0.008 T Pathogenic 4_8230070_T->C 4 8230070 8230070 T C snp 2277.77 1/1 99 78 0 78 1.0 exonic rs1281150 SH3TC1 AU synonymous SNV NM_018986 exon12 c.T2649C p.A883A 0.534145 0.5159 0.629097 0.6551 0.4748 Uncertain 4_8230235_T->C 4 8230235 8230235 T C snp 2549.77 1/1 99 87 0 87 1.0 exonic rs1281151 SH3TC1 AU synonymous SNV NM_018986 exon12 c.T2814C p.L938L 0.55651 0.5169 0.660092 0.6675 0.4799 Uncertain 4_8230456_T->G 4 8230456 8230456 T G snp 130.03 1/1 12 4 0 4 1.0 intronic rs1281152 SH3TC1 AU NM_018986 exon12 c.23450+85T>G 0.539337 0.496 Uncertain 4_8234381_T->C 4 8234381 8234381 T C snp 4849.77 1/1 99 183 0 183 1.0 intronic rs3775905 SH3TC1 AU NM_018986 exon13 c.26962+498T>C 0.265575 0.2431 Uncertain 4_8237096_G->C 4 8237096 8237096 G C snp 1399.77 1/1 99 46 0 46 1.0 intronic rs1678260 SH3TC1 AU NM_018986 exon15 c.30238-63G>C 0.980431 1 Uncertain 4_8238151_C->T 4 8238151 8238151 C T snp 2543.77 1/1 99 99 0 99 1.0 exonic rs11603 SH3TC1 AU synonymous SNV NM_018986 exon16 c.C3552T p.T1184T 0.28095 0.2431 0.292839 0.3701 0.254 Uncertain 4_8242466_A->G 4 8242466 8242466 A G snp 4560.77 1/1 99 173 0 173 1.0 exonic rs1281103 SH3TC1 AU synonymous SNV NM_018986 exon18 c.A3795G p.A1265A 0.984225 1 0.987160 0.9958 1 Uncertain 4_8242740_G->C 4 8242740 8242740 G C snp 412.77 1/1 33 12 0 12 1.0 UTR3 rs8153 SH3TC1 AU 0.228834 0.2212 Uncertain 4_8304038_T->C 4 8304038 8304038 T C snp 890.77 1/1 66 22 0 22 1.0 intronic rs4696797 HTRA3 AU NM_053044 exon7 c.32494-151T>C 0.823083 0.8641 Uncertain 4_8304097_G->T 4 8304097 8304097 G T snp 3660.77 1/1 99 118 1 117 0.99 intronic rs4696798 HTRA3 AU NM_053044 exon7 c.32494-92G>T 0.338458 0.6389 Uncertain 4_8305781_G->T 4 8305781 8305781 G T snp 431.77 1/1 33 11 0 11 1.0 intronic rs4696800 HTRA3 AU NM_053044 exon8 c.34215-129G>T 0.338259 0.629 Uncertain 4_8306028_C->T 4 8306028 8306028 C T snp 4139.77 1/1 99 154 0 154 1.0 intronic rs4696801 HTRA3 AU NM_053044 exon8 c.34311+22C>T 0.372404 0.6349 0.255882 0.3428 0.5943 Uncertain 4_8306091_T->C 4 8306091 8306091 T C snp 1897.77 1/1 99 63 0 63 1.0 intronic rs4696802 HTRA3 AU NM_053044 exon8 c.34311+85T>C 0.375998 0.6409 Uncertain 4_8368604_C->T 4 8368604 8368604 C T snp 503.77 0/1 99 38 19 19 0.5 UTR3 rs708244 ACOX3 AU 0.268371 0.2698 Uncertain 4_8368869_C->T 4 8368869 8368869 C T snp 363.77 0/1 99 44 26 18 0.41 intronic rs827000 ACOX3 AU NM_003501 exon1 c.120+62C>T 0.266973 0.2708 Uncertain 4_8368932_C->T 4 8368932 8368932 C T snp 221.77 0/1 99 19 11 8 0.42 intronic rs827001 ACOX3 AU NM_003501 exon1 c.120+125C>T 0.127396 0.2252 Uncertain 4_8368949_G->A 4 8368949 8368949 G A snp 113.77 0/1 99 10 6 4 0.4 intronic rs827002 ACOX3 AU NM_003501 exon1 c.120+142G>A 0.127396 0.2252 Uncertain 4_8415982_C->T 4 8415982 8415982 C T snp 633.77 0/1 99 30 11 19 0.63 intronic rs2245515 ACOX3 AU NM_001101667 exon13 c.43344-36C>T 0.399561 0.4266 0.401430 0.4108 0.4007 Uncertain 4_8451680_-->CTTTTC 4 8451680 8451680 - CTTTTC indel 447.73 0/1 99 15 6 9 0.6 intronic TRMT44 AU NM_152544 exon3 c.9066+65insCTTTTC Uncertain 4_8454639_A->G 4 8454639 8454639 A G snp 1613.77 0/1 99 196 120 76 0.39 exonic rs1880024 TRMT44 AU nonsynonymous SNV NM_152544 exon5 c.A1054G p.R352G 0.749002 0.6528 0.7598 0.6313 1 T 0.0 P -0.989 T 0.0 T 0.0 T Pathogenic 4_8456701_C->G 4 8456701 8456701 C G snp 909.77 0/1 99 51 20 31 0.61 intronic rs2002860 TRMT44 AU NM_152544 exon6 c.13991+161C>G 0.653155 0.5804 Uncertain 4_8473050_G->A 4 8473050 8473050 G A snp 458.77 0/1 99 43 23 20 0.47 intronic rs2631768 TRMT44 AU NM_152544 exon10 c.30378+123G>A 0.733227 0.755 Uncertain 4_8583475_C->T 4 8583475 8583475 C T snp 444.77 0/1 99 42 23 19 0.45 intronic rs4696848 GPR78 AU NM_080819 exon1 c.668+98C>T 0.265974 0.4435 Uncertain 4_8584448_T->C 4 8584448 8584448 T C snp 2320.77 0/1 99 212 113 99 0.47 intronic rs6824455 GPR78 AU NM_080819 exon2 c.1662+77T>C 0.428514 0.5288 Uncertain 4_8584472_G->A 4 8584472 8584472 G A snp 1725.77 0/1 99 128 62 66 0.52 intronic rs9992205 GPR78 AU NM_080819 exon2 c.1662+101G>A 0.247204 0.4008 Uncertain 4_8588685_C->T 4 8588685 8588685 C T snp 837.77 1/1 63 21 0 21 1.0 intronic rs3115387 GPR78 AU NM_080819 exon3 c.6071-95C>T 0.797724 0.9454 Uncertain 4_8594574_T->C 4 8594574 8594574 T C snp 956.77 1/1 69 31 0 31 1.0 exonic rs2302583 CPZ AU nonsynonymous SNV NM_003652 exon1 c.T14C p.L5P 0.80611 0.9127 0.7344 0.8867 0.09 T 0.000 P -0.905 T 0.0 T 0.0 T Pathogenic 4_8594683_C->T 4 8594683 8594683 C T snp 833.77 0/1 99 52 20 32 0.62 intronic rs2302582 CPZ AU NM_003652 exon1 c.88+35C>T 0.0994409 0.249 0.034028 0.0910 0.3165 Uncertain 4_8594815_T->G 4 8594815 8594815 T G snp 966.77 1/1 72 30 1 29 0.97 intronic rs4411969 CPZ AU NM_003652 exon1 c.88+167T>G 0.804313 0.9127 Uncertain 4_8602793_T->C 4 8602793 8602793 T C snp 923.77 1/1 69 27 0 27 1.0 intronic rs4299567 CPZ AU NM_003652 exon2 c.8289-56T>C 0.983227 1 Uncertain 4_8602798_G->C 4 8602798 8602798 G C snp 1058.77 1/1 78 31 0 31 1.0 intronic rs2241069 CPZ AU NM_003652 exon2 c.8289-51G>C 0.627796 0.6885 0.556156 Uncertain 4_8602816_A->G 4 8602816 8602816 A G snp 1236.77 1/1 90 38 0 38 1.0 intronic rs4594711 CPZ AU NM_003652 exon2 c.8289-33A>G 0.982827 1 0.982379 0.9950 0.9998 Uncertain 4_8602884_T->C 4 8602884 8602884 T C snp 3608.77 1/1 99 126 0 126 1.0 exonic rs4301095 CPZ AU synonymous SNV NM_003652 exon2 c.T123C p.S41S 0.983427 1 0.983930 0.9953 1 Uncertain 4_8602935_A->G 4 8602935 8602935 A G snp 5369.77 1/1 99 195 1 194 0.99 exonic rs4431213 CPZ AU synonymous SNV NM_003652 exon2 c.A174G p.S58S 0.983427 1 0.984161 0.9955 1 Uncertain 4_8605818_C->T 4 8605818 8605818 C T snp 921.77 0/1 99 75 30 45 0.6 exonic rs6852001 CPZ AU synonymous SNV NM_003652 exon3 c.C579T p.C193C 0.161142 0.2976 0.187093 0.2639 0.3563 Uncertain 4_8607587_G->A 4 8607587 8607587 G A snp 1356.77 1/1 99 37 0 37 1.0 intronic rs4696703 CPZ AU NM_003652 exon4 c.13155-128G>A 0.907947 0.9683 Uncertain 4_8612723_TCACTCATTCAC->- 4 8612723 8612734 TCACTCATTCAC - indel 821.8 1/1 18 6 0 6 1.0 intronic rs369320455 CPZ AU NM_003652 exon7 c.19193-1030_19193-1019delTCACTCATTCAC Uncertain 4_8613026_G->A 4 8613026 8613026 G A snp 1789.77 1/1 99 66 0 66 1.0 intronic rs3796727 CPZ AU NM_003652 exon7 c.19193-727G>A 0.286142 0.3393 0.1694 0.35 Uncertain 4_8613152_G->A 4 8613152 8613152 G A snp 309.78 1/1 24 8 0 8 1.0 intronic rs3796726 CPZ AU NM_003652 exon7 c.19193-601G>A 0.191893 0.3383 Uncertain 4_8613627_G->A 4 8613627 8613627 G A snp 243.8 1/1 21 9 0 9 1.0 intronic rs2302576 CPZ AU NM_003652 exon7 c.19193-126G>A 0.0780751 0.2768 Uncertain 4_8613688_T->C 4 8613688 8613688 T C snp 1383.77 1/1 99 42 0 42 1.0 intronic rs2302575 CPZ AU NM_003652 exon7 c.19193-65T>C 0.0776757 0.2758 Uncertain 4_8613786_C->T 4 8613786 8613786 C T snp 2923.77 1/1 99 124 1 123 0.99 exonic rs2302574 CPZ AU synonymous SNV NM_003652 exon7 c.C1227T p.D409D 0.0664936 0.2748 0.002538 0.0303 0.2718 Uncertain 4_8613867_G->A 4 8613867 8613867 G A snp 1917.77 1/1 99 64 0 64 1.0 exonic rs2302573 CPZ AU synonymous SNV NM_003652 exon7 c.G1308A p.A436A 0.0814696 0.2669 0.023923 0.0402 0.2794 Uncertain 4_8613917_C->G 4 8613917 8613917 C G snp 50.74 1/1 6 2 0 2 1.0 intronic rs12511563 CPZ AU NM_003652 exon7 c.19329+28C>G 0.879792 0.8631 0.449128 0.8969 0.9329 Uncertain 4_8616096_T->C 4 8616096 8616096 T C snp 2337.77 1/1 99 86 0 86 1.0 exonic rs1131140 CPZ AU synonymous SNV NM_003652 exon8 c.T1341C p.D447D 0.616813 0.87 0.497309 0.5753 0.8544 Uncertain 4_8616179_T->C 4 8616179 8616179 T C snp 3230.05 1/1 99 118 0 118 1.0 exonic rs7378066 CPZ AU nonsynonymous SNV NM_003652 exon8 c.T1424C p.I475T 0.995407 1 0.994233 0.9984 1 0.61 T 0.0 P -1.012 T 0.0 T 0.0 T Pathogenic 4_8620045_A->G 4 8620045 8620045 A G snp 1531.77 1/1 99 42 0 42 1.0 intronic rs4444816 CPZ AU NM_003652 exon9 c.25595-110A>G 0.90655 1 Uncertain 4_8620285_ACC->- 4 8620285 8620287 ACC - indel 11528.7 1/1 99 218 0 218 1.0 intronic rs3214356 CPZ AU NM_003652 exon9 c.25695+30_25695+32delACC 0.0784744 0.2748 0.017489 0.0349 0.2765 Uncertain 4_8620325_A->G 4 8620325 8620325 A G snp 3597.77 1/1 99 119 0 119 1.0 intronic rs4696872 CPZ AU NM_003652 exon9 c.25695+70A>G 0.917332 0.9663 Uncertain 4_8621194_A->G 4 8621194 8621194 A G snp 5788.77 1/1 99 219 0 219 1.0 exonic rs28514374 CPZ AU synonymous SNV NM_003652 exon10 c.A1776G p.P592P 0.995407 0.999 0.996463 0.9988 0.9999 Uncertain 4_8869257_A->G 4 8869257 8869257 A G snp 174.9 1/1 15 5 0 5 1.0 UTR3 rs13303067 HMX1 AR 0.882388 0.9216 Uncertain 4_8869587_T->C 4 8869587 8869587 T C snp 636.77 1/1 48 21 0 21 1.0 exonic rs13303225 HMX1 AR synonymous SNV NM_018942 exon2 c.A879G p.A293A 0.910743 0.9683 0.8767 . Uncertain 4_8951816_A->G 4 8951816 8951816 A G snp 468.77 1/1 36 15 0 15 1.0 exonic rs3952877 LOC650293 AU nonsynonymous SNV NM_001040071 exon1 c.A340G p.M114V 0.994209 1 0.995182 0.9970 1 Pathogenic 4_9370908_C->T 4 9370908 9370908 C T snp 180.9 1/1 15 5 0 5 1.0 downstream rs11938651 USP17L6P AU 0.567093 0.6538 Uncertain 4_9784631_C->T 4 9784631 9784631 C T snp 1002.77 0/1 99 66 32 34 0.52 exonic rs6283 DRD5 AU,AD,AO synonymous SNV NM_000798 exon1 c.C978T p.P326P 0.609026 0.6121 0.6307 0.6133 Uncertain 4_9785134_T->C 4 9785134 9785134 T C snp 395.77 0/1 99 28 14 14 0.5 UTR3 rs1967551 DRD5 AU,AD,AO 0.425519 0.3254 0.568859 0.5709 0.3467 Uncertain 4_9892061_C->A 4 9892061 9892061 C A snp 118.77 0/1 99 10 5 5 0.5 intronic rs28489733 SLC2A9 AR,AD NM_020041 exon4 c.64213-172C>A 0.147364 0.2629 Uncertain 4_9892102_T->C 4 9892102 9892102 T C snp 256.77 0/1 99 24 13 11 0.46 intronic rs10939602 SLC2A9 AR,AD NM_020041 exon4 c.64213-131T>C Uncertain 4_9921931_T->C 4 9921931 9921931 T C snp 90.28 1/1 9 3 0 3 1.0 intronic rs6823877 SLC2A9 AR,AD NM_020041 exon6 c.93988-77T>C 0.723842 0.7937 Uncertain 4_9922130_C->T 4 9922130 9922130 C T snp 5654.77 1/1 99 224 0 224 1.0 exonic rs3733591 SLC2A9 AR,AD nonsynonymous SNV NM_020041 exon7 c.G881A p.R294H 0.294129 0.6845 0.149393 0.2459 0.6799 0.003 P -0.902 T 1.0 D 0.997 D ID=CM1010127;DIS=Gout, association with;TAG=DP;PUB=19723617 DP Pathogenic 4_9982191_C->T 4 9982191 9982191 C T snp 942.77 0/1 99 59 23 36 0.61 intronic rs13115193 SLC2A9 AR,AD NM_020041 exon8 c.154195-24C>T 0.386182 0.4177 0.423343 0.4742 0.4258 Uncertain 4_9982330_A->G 4 9982330 9982330 A G snp 5902.77 1/1 99 219 0 219 1.0 exonic rs13125646 SLC2A9 AR,AD synonymous SNV NM_020041 exon5 c.T567C p.L189L 0.752396 0.9861 0.729202 0.7717 0.9859 Uncertain 4_9987226_T->C 4 9987226 9987226 T C snp 366.77 0/1 99 32 17 15 0.47 intronic rs3733590 SLC2A9 AR,AD NM_020041 exon9 c.159272-66T>C 0.182708 0.3958 Uncertain 4_9987324_G->A 4 9987324 9987324 G A snp 1348.77 0/1 99 111 62 49 0.44 exonic rs3733589 SLC2A9 AR,AD synonymous SNV NM_020041 exon4 c.C504T p.I168I 0.15615 0.3919 0.059127 0.0864 0.3976 Uncertain 4_9998440_C->T 4 9998440 9998440 C T snp 1607.77 0/1 99 129 58 71 0.55 exonic rs10939650 SLC2A9 AR,AD synonymous SNV NM_020041 exon3 c.G375A p.T125T 0.642173 0.506 0.727126 0.7054 0.5062 Uncertain 4_9998493_A->G 4 9998493 9998493 A G snp 4097.77 1/1 99 150 0 150 1.0 exonic rs13113918 SLC2A9 AR,AD synonymous SNV NM_020041 exon3 c.T322C p.L108L 0.820687 0.9722 0.782331 0.8015 0.9823 Uncertain 4_9998605_T->C 4 9998605 9998605 T C snp 2418.77 1/1 99 82 0 82 1.0 intronic rs28592748 SLC2A9 AR,AD NM_020041 exon10 c.170545+40T>C 0.820687 0.9722 0.782177 0.8017 0.9823 Uncertain 4_10020480_C->T 4 10020480 10020480 C T snp 52.74 1/1 6 2 0 2 1.0 intronic rs2240720 SLC2A9 AR,AD NM_020041 exon11 c.192578-118C>T 0.410743 0.4286 Uncertain 4_10020564_G->A 4 10020564 10020564 G A snp 262.77 0/1 99 23 10 13 0.57 intronic rs2240721 SLC2A9 AR,AD NM_020041 exon11 c.192578-34G>A 0.408546 0.4167 0.397303 0.5422 0.4366 Uncertain 4_10020757_A->G 4 10020757 10020757 A G snp 680.77 0/1 99 46 18 28 0.61 intronic rs2240722 SLC2A9 AR,AD NM_020041 exon11 c.192677+60A>G 0.407947 0.4177 Uncertain 4_10022839_G->A 4 10022839 10022839 G A snp 38.77 0/1 67 8 5 3 0.38 intronic rs2276963 SLC2A9 AR,AD NM_020041 exon12 c.194883-64G>A 0.207867 0.4643 Uncertain 4_10022880_T->C 4 10022880 10022880 T C snp 142.77 0/1 99 21 14 7 0.33 intronic rs2276962 SLC2A9 AR,AD NM_020041 exon12 c.194883-23T>C 0.158347 0.3899 0.061126 0.0854 0.4003 Uncertain 4_10022981_C->T 4 10022981 10022981 C T snp 955.77 0/1 99 74 35 39 0.53 exonic rs2276961 SLC2A9 AR,AD nonsynonymous SNV NM_020041 exon1 c.G73A p.G25R 0.407348 0.4177 0.428264 0.5103 0.4246 0.000 P -0.985 T 0.013 T 0.002 T Pathogenic 4_10076860_G->A 4 10076860 10076860 G A snp 86.28 1/1 9 3 0 3 1.0 UTR3 rs9926 WDR1 AU 0.134784 0.1399 Uncertain 4_10080462_A->C 4 10080462 10080462 A C snp 1275.77 0/1 99 142 89 53 0.37 intronic rs2241469 WDR1 AU NM_017491 exon4 c.3513-52A>C 0.290136 0.3502 Uncertain 4_10084570_T->G 4 10084570 10084570 T G snp 42.77 0/1 33 3 1 2 0.67 intronic rs2241470 WDR1 AU NM_017491 exon6 c.7644-75T>G 0.347244 0.5258 Uncertain 4_10085949_G->A 4 10085949 10085949 G A snp 451.77 0/1 99 18 5 13 0.72 intronic rs2241473 WDR1 AU NM_017491 exon7 c.9063-115G>A 0.159345 0.2222 Uncertain 4_10086015_T->C 4 10086015 10086015 T C snp 2083.77 1/1 99 76 0 76 1.0 intronic rs2241474 WDR1 AU NM_017491 exon7 c.9063-49T>C 0.404353 0.4921 0.399693 0.4865 0.4954 Uncertain 4_10086188_T->G 4 10086188 10086188 T G snp 762.77 0/1 99 84 51 33 0.39 intronic rs2241475 WDR1 AU NM_017491 exon7 c.9153+34T>G 0.36222 0.5258 0.309573 0.3493 0.5555 Uncertain 4_10089865_G->A 4 10089865 10089865 G A snp 70.77 0/1 99 8 4 4 0.5 intronic rs734122 WDR1 AU NM_017491 exon9 c.12915-51G>A 0.328674 0.5238 0.281647 0.3090 0.5563 Uncertain 4_10090178_T->C 4 10090178 10090178 T C snp 5562.77 1/1 99 196 0 196 1.0 intronic rs4235349 WDR1 AU NM_017491 exon10 c.13286-109T>C 0.980631 0.999 0.9939 1 1 T 0.0 P -0.975 T Uncertain 4_10094698_G->A 4 10094698 10094698 G A snp 1945.77 0/1 99 162 78 84 0.52 intronic rs3822246 WDR1 AU NM_017491 exon10 c.13364+4333G>A 0.127796 0.1438 0.1898 0.1558 0 D 0.000 P -1.027 T 0.005 T 0.004 T Uncertain 4_10094783_T->C 4 10094783 10094783 T C snp 1195.77 0/1 99 129 76 53 0.41 intronic rs3822245 WDR1 AU NM_017491 exon10 c.13364+4418T>C 0.582069 0.6528 Uncertain 4_10099277_G->A 4 10099277 10099277 G A snp 123.77 0/1 99 23 17 6 0.26 intronic rs41268389 WDR1 AU NM_017491 exon11 c.22333-57G>A 0.127995 0.1448 Uncertain 4_10099340_T->C 4 10099340 10099340 T C snp 828.77 0/1 99 68 32 36 0.53 exonic rs13441 WDR1 AU nonsynonymous SNV NM_017491 exon5 c.A553G p.I185V 0.57528 0.6538 0.623322 0.6492 0.6582 0.2 T 0.001 P -0.978 T 0.019 T 0.026 T Pathogenic 4_10105739_C->T 4 10105739 10105739 C T snp 137.77 0/1 99 20 12 8 0.4 intronic rs3756224 WDR1 AU NM_017491 exon13 c.28609+129C>T 0.379992 0.5446 Uncertain 4_10444650_C->T 4 10444650 10444650 C T snp 289.77 0/1 99 19 10 9 0.47 UTR3 rs3217 ZNF518B AU 0.218251 0.2302 Uncertain 4_10445427_A->T 4 10445427 10445427 A T snp 1429.77 0/1 99 134 75 59 0.44 exonic rs7694496 ZNF518B AU synonymous SNV NM_053042 exon3 c.T2526A p.P842P 0.14377 0.1597 0.088882 0.0505 0.1436 ID=COSM149646;OCCURENCE=1(stomach) Uncertain 4_10446385_C->T 4 10446385 10446385 C T snp 7451.77 1/1 99 250 1 249 1.0 exonic rs9291410 ZNF518B AU nonsynonymous SNV NM_053042 exon3 c.G1568A p.S523N 0.991014 1 0.990235 0.9974 1 1 T 0.0 P -0.994 T 0.0 T 0.0 T Pathogenic 4_10446906_A->G 4 10446906 10446906 A G snp 7873.77 1/1 99 250 1 249 1.0 exonic rs10016022 ZNF518B AU synonymous SNV NM_053042 exon3 c.T1047C p.D349D 0.801518 0.7946 0.784561 0.7507 0.8116 Uncertain 4_10447640_A->G 4 10447640 10447640 A G snp 2105.77 0/1 99 171 91 80 0.47 exonic rs10016702 ZNF518B AU nonsynonymous SNV NM_053042 exon3 c.T313C p.S105P 0.210463 0.1696 0.196525 0.1254 0.1512 0.37 T 0.0 P -1.026 T 0.0 T 0.0 T Pathogenic 4_10447679_C->T 4 10447679 10447679 C T snp 2266.77 0/1 99 184 93 91 0.49 exonic rs10007352 ZNF518B AU nonsynonymous SNV NM_053042 exon3 c.G274A p.G92S 0.14397 0.1597 0.088344 0.0495 0.1437 1 T 0.0 P -1.004 T 0.223 T 0.015 T ID=COSM149648;OCCURENCE=1(stomach) Pathogenic 4_10447848_T->G 4 10447848 10447848 T G snp 2756.77 0/1 99 250 134 116 0.46 exonic rs10021506 ZNF518B AU synonymous SNV NM_053042 exon3 c.A105C p.P35P 0.147564 0.1627 0.090958 0.0514 0.1472 Uncertain 4_10447976_C->T 4 10447976 10447976 C T snp 1281.77 0/1 99 134 75 59 0.44 UTR5 rs76743293 ZNF518B AU 0.0593051 0.1627 0.004767 0.0336 0.2166 Uncertain 4_10447986_T->- 4 10447986 10447986 T - indel 2288.73 0/1 99 117 50 67 0.57 UTR5 rs35177766 ZNF518B AU 0.517971 0.6091 0.522368 0.5388 0.6329 Uncertain 4_10502937_T->G 4 10502937 10502937 T G snp 5198.77 1/1 99 188 0 188 1.0 exonic rs2903960 CLNK AU synonymous SNV NM_052964 exon18 c.A1083C p.I361I 0.990016 1 0.991425 0.9976 1 Uncertain 4_10509699_T->C 4 10509699 10509699 T C snp 2803.77 1/1 99 101 0 101 1.0 intronic rs2868941 CLNK AU NM_052964 exon3 c.17570+39T>C 0.78155 0.8056 0.764341 0.7535 0.8178 Uncertain 4_10522259_A->C 4 10522259 10522259 A C snp 172.77 0/1 99 22 13 9 0.41 intronic rs977125 CLNK AU NM_052964 exon5 c.30324-155A>C 0.0473243 0.0516 Uncertain 4_10527342_C->T 4 10527342 10527342 C T snp 631.77 0/1 99 42 18 24 0.57 intronic rs2108878 CLNK AU NM_052964 exon6 c.35374-122C>T 0.545927 0.5923 Uncertain 4_10527612_C->T 4 10527612 10527612 C T snp 563.77 0/1 99 32 10 22 0.69 intronic rs78002135 CLNK AU NM_052964 exon6 c.35456+66C>T 0.0477236 0.0526 Uncertain 4_10529633_C->T 4 10529633 10529633 C T snp 1475.77 0/1 99 121 54 67 0.55 intronic rs6837339 CLNK AU NM_052964 exon7 c.37609-66C>T 0.0471246 0.0516 0.032633 Uncertain 4_10533710_T->C 4 10533710 10533710 T C snp 322.77 0/1 99 33 19 14 0.42 intronic rs79651229 CLNK AU NM_052964 exon8 c.41789-169T>C 0.0271565 0.0516 Uncertain 4_10542162_A->G 4 10542162 10542162 A G snp 1358.77 0/1 99 144 85 59 0.41 exonic rs146127304 CLNK AU synonymous SNV NM_052964 exon11 c.T558C p.P186P 0.00539137 0.0238 0.000162 0.0028 0.0361 Uncertain 4_10543616_-->A 4 10543616 10543616 - A indel 474.73 0/1 99 42 20 22 0.52 intronic rs11440483 CLNK AU NM_052964 exon10 c.51555-29insA 0.0956 0.1844 Uncertain 4_10573306_T->A 4 10573306 10573306 T A snp 1205.77 0/1 99 105 58 47 0.45 intronic rs16869983 CLNK AU NM_052964 exon15 c.81274-58T>A 0.0181709 0.0823 0.000438 Uncertain 4_10669522_A->C 4 10669522 10669522 A C snp 1569.77 0/1 99 154 82 72 0.47 UTR5 rs13136927 CLNK AU 0.411741 0.3472 0.469026 0.4875 0.3406 Uncertain 4_13371360_T->C 4 13371360 13371360 T C snp 246.77 0/1 99 25 16 9 0.36 intronic rs2290599 RAB28 AR NM_001017979 exon1 c.93+1086T>C 0.00539137 0.0268 Uncertain 4_13462516_C->T 4 13462516 13462516 C T snp 515.77 0/1 99 46 26 20 0.43 intronic rs77366135 RAB28 AR NM_001159601 exon5 c.89003+64C>T 0.0175719 0.0119 Uncertain 4_13475415_ATC->- 4 13475415 13475417 ATC - indel 2473.73 0/1 99 74 28 46 0.62 intronic rs34962392 RAB28 AR NM_001159601 exon6 c.102492-526_102492-524delATC 0.126997 0.1518 0.127524 0.2118 0.1429 Uncertain 4_13530500_A->C 4 13530500 13530500 A C snp 60.77 0/1 89 56 41 15 0.27 ncRNA_intronic LINC01097 AU Uncertain 4_13545792_G->T 4 13545792 13545792 G T snp 1271.77 1/1 59 51 2 49 0.96 exonic rs9684692 NKX3-2 AR synonymous SNV NM_001189 exon1 c.C247A p.R83R 0.644569 0.9673 0.604396 0.6860 0.9587 Uncertain 4_13548796_T->G 4 13548796 13548796 T G snp 3875.77 1/1 99 138 0 138 1.0 ncRNA_exonic rs2080023 LINC01096 AU 0.984225 1 0.9989 1 Uncertain 4_13578405_A->G 4 13578405 13578405 A G snp 641.77 1/1 48 16 0 16 1.0 intronic rs2052159 BOD1L1 AU NM_148894 exon2 c.6827-56A>G 0.986821 1 Uncertain 4_13589495_G->A 4 13589495 13589495 G A snp 736.77 1/1 54 24 0 24 1.0 intronic rs13104252 BOD1L1 AU NM_148894 exon11 c.17761+100G>A 0.577676 0.9692 Uncertain 4_13593336_A->G 4 13593336 13593336 A G snp 264.8 1/1 21 8 0 8 1.0 intronic rs758975 BOD1L1 AU NM_148894 exon14 c.21912-210A>G 0.965855 1 Uncertain 4_13601337_G->A 4 13601337 13601337 G A snp 3037.77 0/1 99 224 99 125 0.56 exonic rs3733557 BOD1L1 AU nonsynonymous SNV NM_148894 exon10 c.C7187T p.P2396L 0.108626 0.1746 0.109411 0.1354 0.1801 0.32 T 0.0 P -0.958 T 0.0 T 0.0 T Pathogenic 4_13601933_C->T 4 13601933 13601933 C T snp 2636.77 0/1 99 238 131 107 0.45 exonic rs141423399 BOD1L1 AU synonymous SNV NM_148894 exon10 c.G6591A p.A2197A 0.00199681 0.0079 0.000846 0.0024 0.0088 Uncertain 4_13606576_A->T 4 13606576 13606576 A T snp 5340.77 1/1 99 200 0 200 1.0 exonic rs1971278 BOD1L1 AU nonsynonymous SNV NM_148894 exon10 c.T1948A p.L650I 0.724241 0.9712 0.663540 0.8074 0.9635 0.62 T 0.0 P -1.025 T 0.0 T 0.0 T Pathogenic 4_13615293_C->A 4 13615293 13615293 C A snp 2735.77 1/1 99 96 0 96 1.0 intronic rs2109917 BOD1L1 AU NM_148894 exon22 c.43651+8C>A 0.722444 0.9712 0.662104 0.8094 0.9618 Uncertain 4_13629721_G->A 4 13629721 13629721 G A snp 1276.77 1/1 93 44 0 44 1.0 upstream;downstream rs12499127 BOD1L1;MIR5091 UN 0.71845 0.9722 Uncertain 4_15004655_G->A 4 15004655 15004655 G A snp 1902.77 0/1 99 195 105 90 0.46 exonic rs7435318 CPEB2 AU nonsynonymous SNV NM_001177381 exon1 c.G358A p.D120N 0.800519 0.9663 0.6611 0.9733 0.49 T 0.000 P -1.005 T Pathogenic 4_15005604_G->A 4 15005604 15005604 G A snp 1568.77 0/1 99 130 57 73 0.56 exonic rs112476821 CPEB2 AU nonsynonymous SNV NM_001177381 exon1 c.G1307A p.S436N 0.472644 0.7292 0.415317 0.5896 0.8162 0.32 T 0.000 P -0.967 T Pathogenic 4_15041972_A->G 4 15041972 15041972 A G snp 346.77 0/1 99 36 24 12 0.33 ncRNA_intronic rs7698803 LOC101929095 AU 0.21905 0.1756 Uncertain 4_15042245_C->T 4 15042245 15042245 C T snp 267.77 0/1 87 13 3 10 0.77 ncRNA_intronic rs2604576 LOC101929095 AU 0.169529 0.1488 Uncertain 4_15063830_T->C 4 15063830 15063830 T C snp 2031.77 0/1 99 189 96 93 0.49 exonic rs16891343 CPEB2 AU synonymous SNV NM_001177384 exon9 c.T2718C p.I906I 0.043131 0.0823 0.000461 0.0227 0.0825 Uncertain 4_15443685_T->G 4 15443685 15443685 T G snp 128.77 0/1 99 18 13 5 0.28 intronic rs13108125 C1QTNF7 AU NM_031911 exon3 c.6424-106T>G 0.609225 0.6032 Uncertain 4_15480225_A->C 4 15480225 15480225 A C snp 546.77 1/1 42 16 0 16 1.0 intronic rs9993580 CC2D2A AR NM_020785 exon4 c.2790-121A>C 0.848842 0.9722 Uncertain 4_15480482_G->A 4 15480482 15480482 G A snp 1200.77 0/1 99 93 40 53 0.57 intronic rs13353624 CC2D2A AR NM_020785 exon4 c.2874+52G>A 0.11901 0.1647 0.058176 Uncertain 4_15480665_T->G 4 15480665 15480665 T G snp 295.77 0/1 99 20 8 12 0.6 intronic rs80245100 CC2D2A AR NM_020785 exon5 c.3290-181T>G 0.119609 0.1647 Uncertain 4_15480673_T->C 4 15480673 15480673 T C snp 301.77 0/1 99 25 13 12 0.48 intronic rs16892028 CC2D2A AR NM_020785 exon5 c.3290-173T>C 0.0990415 0.3294 Uncertain 4_15482322_C->T 4 15482322 15482322 C T snp 812.77 0/1 99 65 35 30 0.46 splicing rs1861049 CC2D2A AR NM_020785 exon6 c.4771-5C>T 0.230831 0.1657 0.150116 0.1281 0.1796 Pathogenic 4_15482360_C->T 4 15482360 15482360 C T snp 1242.77 0/1 99 105 54 51 0.49 exonic rs1861050 CC2D2A AR synonymous SNV NM_001080522 exon5 c.C156T p.S52S 0.11881 0.1647 0.056646 0.0882 0.1720 1 T 1.000 P CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000114165.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Likely benign 4_15482477_A->G 4 15482477 15482477 A G snp 2777.77 1/1 99 106 0 106 1.0 intronic rs10000250 CC2D2A AR NM_020785 exon6 c.4895+26A>G 0.85024 0.9722 0.856471 0.8602 0.9797 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000114169.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 4_15482668_A->C 4 15482668 15482668 A C snp 121.77 0/1 99 18 13 5 0.28 intronic rs6836616 CC2D2A AR NM_020785 exon7 c.5264-152A>C 0.236621 0.1667 Uncertain 4_15482809_G->A 4 15482809 15482809 G A snp 269.77 0/1 99 30 15 15 0.5 intronic rs6810461 CC2D2A AR NM_020785 exon7 c.5264-11G>A 0.455272 0.2381 0.4113 0.2796 Uncertain 4_15516389_C->T 4 15516389 15516389 C T snp 1991.77 0/1 99 183 96 87 0.48 exonic rs2286976 CC2D2A AR synonymous SNV NM_001080522 exon10 c.C777T p.H259H 0.0960463 0.3492 0.034853 0.0539 0.3589 CLINSIG=probable-non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=no_assertion_criteria_provided|criteria_provided\x2c_single_submitter;CLNACC=RCV000114184.2|RCV000124161.1;CLNDSDB=MedGen|MedGen;CLNDSDBID=CN169374|CN221809 Uncertain 4_15518357_A->C 4 15518357 15518357 A C snp 1115.77 0/1 99 134 81 53 0.4 exonic rs16892095 CC2D2A AR nonsynonymous SNV NM_001080522 exon12 c.A1127C p.E376A 0.117612 0.2579 0.019724 0.0719 0.2566 0.55 T 1.000 P -0.919 T 0.015 T 0.023 T Pathogenic 4_15535095_A->G 4 15535095 15535095 A G snp 99.28 1/1 9 3 0 3 1.0 intronic rs7687556 CC2D2A AR NM_001080522 exon15 c.57400+139A>G 0.925319 0.9375 Uncertain 4_15538744_T->G 4 15538744 15538744 T G snp 1383.77 1/1 99 44 0 44 1.0 intronic rs1558572 CC2D2A AR NM_001080522 exon16 c.61143+45T>G 0.748203 0.8145 0.748689 0.7494 0.8210 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000114166.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 4_15560631_C->G 4 15560631 15560631 C G snp 214.84 1/1 18 6 0 6 1.0 intronic rs9996452 CC2D2A AR NM_001080522 exon23 c.83231-156C>G 0.415335 0.5089 Uncertain 4_15575751_C->T 4 15575751 15575751 C T snp 1159.77 1/1 84 37 0 37 1.0 intronic rs4280724 CC2D2A AR NM_001080522 exon30 c.98216-21C>T 0.286342 0.4722 0.267849 0.3252 0.5163 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000114177.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 4_15587897_A->T 4 15587897 15587897 A T snp 5596.77 1/1 99 212 1 211 1.0 intronic rs6832789 CC2D2A AR NM_001080522 exon32 c.110313+28A>T 0.948882 1 0.957797 0.9875 0.9998 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000114179.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 4_15589314_C->G 4 15589314 15589314 C G snp 139.03 1/1 12 4 0 4 1.0 intronic rs6449150 CC2D2A AR NM_001080522 exon33 c.111882-124C>G 0.839856 0.9613 Uncertain 4_15589345_C->T 4 15589345 15589345 C T snp 567.77 1/1 42 16 0 16 1.0 intronic rs28419165 CC2D2A AR NM_001080522 exon33 c.111882-93C>T 0.301717 0.4474 Uncertain 4_15602773_-->TTA 4 15602773 15602773 - TTA indel 838.73 1/1 45 15 0 15 1.0 intronic rs10636888 CC2D2A AR NM_001080522 exon38 c.125303-86insTTA 0.934704 0.999 Uncertain 4_15613780_T->C 4 15613780 15613780 T C snp 90.28 1/1 9 3 0 3 1.0 intronic rs9884443 FBXL5 AU NM_001193534 exon2 c.6543-108T>C 0.949681 1 Uncertain 4_15629803_G->A 4 15629803 15629803 G A snp 139.03 1/1 12 4 0 4 1.0 intronic rs4698402 FBXL5 AU NM_001193534 exon5 c.22311+147G>A 0.59984 0.6052 Uncertain 4_15632484_C->T 4 15632484 15632484 C T snp 840.77 0/1 99 71 36 35 0.49 intronic rs11934401 FBXL5 AU NM_001193534 exon6 c.25069+70C>T 0.095647 0.2321 Uncertain 4_15657036_C->T 4 15657036 15657036 C T snp 228.77 0/1 99 14 6 8 0.57 upstream rs184805452 FBXL5 AU 0.146366 0.253 Uncertain 4_15689928_G->A 4 15689928 15689928 G A snp 2627.77 1/1 99 97 0 97 1.0 exonic rs4235380 FAM200B AU nonsynonymous SNV NM_001145191 exon2 c.G1328A p.S443N 0.314297 0.4683 0.280702 0.3045 0.5130 0.000 P -0.978 T 0.002 T 0.003 T Pathogenic 4_15690233_C->A 4 15690233 15690233 C A snp 3909.77 1/1 99 140 0 140 1.0 exonic rs6449160 FAM200B AU nonsynonymous SNV NM_001145191 exon2 c.C1633A p.H545N 0.996605 1 0.9957 1 0.51 T 0.000 P -1.015 T 0.0 T 0.0 T Pathogenic 4_15705039_T->G 4 15705039 15705039 T G snp 52.74 1/1 6 2 0 2 1.0 intronic rs2302467 BST1 AU NM_004334 exon1 c.188+84T>G 0.493211 0.7292 Uncertain 4_15709252_G->A 4 15709252 15709252 G A snp 1822.77 0/1 99 158 80 78 0.49 exonic rs2302464 BST1 AU nonsynonymous SNV NM_004334 exon3 c.G434A p.R145Q 0.0790735 0.2232 0.032985 0.0485 0.2057 0.12 T 0.929 P -1.024 T 1.0 D 0.713 D Pathogenic 4_15717321_G->A 4 15717321 15717321 G A snp 598.77 0/1 99 52 25 27 0.52 intronic rs3213710 BST1 AU NM_004334 exon6 c.12562-8G>A 0.44349 0.4266 0.437481 0.5174 0.4446 Uncertain 4_15733266_G->A 4 15733266 15733266 G A snp 562.77 0/1 99 46 22 24 0.52 intronic rs4498133 BST1 AU NM_004334 exon9 c.28595-96G>A 0.186302 0.502 Uncertain 4_15733454_A->C 4 15733454 15733454 A C snp 860.77 0/1 99 73 35 38 0.52 exonic rs1058212 BST1 AU synonymous SNV NM_004334 exon9 c.A943C p.R315R 0.185903 0.502 0.058896 0.1201 0.5255 ID=COSM39300;OCCURENCE=1(large_intestine),1(stomach),1(central_nervous_system) Uncertain 4_15737863_G->A 4 15737863 15737863 G A snp 1952.77 0/1 99 138 62 76 0.55 intergenic rs4273468 BST1 AU 0.308706 0.5565 Uncertain 4_15737882_C->T 4 15737882 15737882 C T snp 1075.77 0/1 99 102 59 43 0.42 intergenic rs4698413 BST1 AU 0.407748 0.3829 Uncertain 4_15737890_T->C 4 15737890 15737890 T C snp 1334.77 0/1 99 86 36 50 0.58 intergenic rs4613561 BST1 AU 0.460463 0.6042 Uncertain 4_15737937_A->G 4 15737937 15737937 A G snp 461.77 0/1 99 29 13 16 0.55 intergenic rs4538475 BST1 AU 0.308906 0.5565 Uncertain 4_15739390_T->G 4 15739390 15739390 T G snp 1744.77 0/1 99 158 85 73 0.46 intergenic rs4263397 BST1 AU 0.41873 0.5972 0.2771 0.5347 Uncertain 4_15739428_A->T 4 15739428 15739428 A T snp 1392.77 0/1 99 141 75 66 0.47 intergenic rs4320134 BST1 AU 0.217452 0.3244 0.1274 0.2778 Uncertain 4_15739488_A->G 4 15739488 15739488 A G snp 2121.77 1/1 99 71 0 71 1.0 intergenic rs4283655 BST1 AU 0.921725 0.9881 Uncertain 4_15937731_T->C 4 15937731 15937731 T C snp 6486.77 1/1 99 215 0 215 1.0 exonic rs2072313 FGFBP1 AU synonymous SNV NM_005130 exon3 c.A525G p.K175K 0.914936 0.8204 0.943257 0.9540 0.8277 Uncertain 4_15964485_G->A 4 15964485 15964485 G A snp 4128.77 1/1 99 143 0 143 1.0 exonic rs758329 FGFBP2 AU nonsynonymous SNV NM_031950 exon1 c.C268T p.P90S 0.33726 0.501 0.387590 0.4032 0.4943 0.42 T 0.0 P -0.972 T 0.126 T 0.042 T Pathogenic 4_15964573_A->G 4 15964573 15964573 A G snp 6584.77 1/1 99 239 0 239 1.0 exonic rs758328 FGFBP2 AU synonymous SNV NM_031950 exon1 c.T180C p.R60R 0.923522 1 0.921882 0.9773 0.9998 Uncertain 4_15972549_G->A 4 15972549 15972549 G A snp 93.28 1/1 9 3 0 3 1.0 intronic rs3857147 PROM1 AU,AD,AR 0.872404 1 Uncertain 4_15977572_T->C 4 15977572 15977572 T C snp 465.77 1/1 36 14 0 14 1.0 intronic rs11734657 PROM1 AU,AD,AR NM_006017 exon3 c.8328-3445T>C 0.996805 1 Uncertain 4_15981927_A->- 4 15981927 15981927 A - indel 114.73 0/1 99 54 35 19 0.35 intronic rs549596143 PROM1 AU,AD,AR NM_001145852 exon3 c.9355-117delA 0.561901 0.4702 0.3488 0.3438 Uncertain 4_15985802_A->C 4 15985802 15985802 A C snp 565.77 0/1 99 38 18 20 0.53 intronic rs2302167 PROM1 AU,AD,AR NM_001145852 exon4 c.13196-83A>C 0.0866613 0.2411 Uncertain 4_15986042_G->A 4 15986042 15986042 G A snp 2944.77 1/1 99 108 0 108 1.0 intronic rs7675574 PROM1 AU,AD,AR NM_001145852 exon4 c.13289+64G>A 0.977236 1 Uncertain 4_15986113_T->C 4 15986113 15986113 T C snp 1091.77 1/1 81 37 0 37 1.0 intronic rs7659341 PROM1 AU,AD,AR NM_001145852 exon4 c.13289+135T>C 0.997604 1 Uncertain 4_15986186_G->T 4 15986186 15986186 G T snp 288.78 1/1 24 8 0 8 1.0 intronic rs7675791 PROM1 AU,AD,AR NM_001145852 exon4 c.13289+208G>T 0.989417 1 Uncertain 4_15987512_T->A 4 15987512 15987512 T A snp 44.74 1/1 6 2 0 2 1.0 intronic rs2041210 PROM1 AU,AD,AR NM_001145852 exon5 c.14762+61T>A 0.469649 0.5159 Uncertain 4_15987807_G->C 4 15987807 15987807 G C snp 385.77 1/1 30 11 0 11 1.0 intronic rs7688123 PROM1 AU,AD,AR NM_001145852 exon6 c.14971+147G>C 0.991414 1 Uncertain 4_15989191_C->T 4 15989191 15989191 C T snp 507.77 0/1 99 48 24 24 0.5 intronic rs2191004 PROM1 AU,AD,AR NM_001145852 exon7 c.16596-94C>T 0.891174 0.7431 Uncertain 4_15991275_G->A 4 15991275 15991275 G A snp 1349.77 0/1 99 126 64 62 0.49 intronic rs2240685 PROM1 AU,AD,AR NM_001145852 exon8 c.18665-79G>A 0.607228 0.5308 Uncertain 4_16002050_T->C 4 16002050 16002050 T C snp 833.77 0/1 99 58 28 30 0.52 intronic rs6449212 PROM1 AU,AD,AR NM_001145852 exon13 c.29429-68T>C 0.92512 0.8155 Uncertain 4_16024885_A->G 4 16024885 16024885 A G snp 3925.77 1/1 99 138 0 138 1.0 intronic rs2013854 PROM1 AU,AD,AR NM_001145852 exon19 c.52259-63A>G 0.702077 0.6627 Uncertain 4_16025837_C->T 4 16025837 16025837 C T snp 974.77 0/1 99 77 35 42 0.55 intronic rs17478336 PROM1 AU,AD,AR NM_001145852 exon20 c.53228-80C>T 0.301917 0.1815 Uncertain 4_16504184_G->C 4 16504184 16504184 G C snp 189.77 0/1 99 24 14 10 0.42 UTR3 rs872478 LDB2 AU 0.195088 0.1389 Uncertain 4_16510131_C->T 4 16510131 16510131 C T snp 374.77 0/1 99 30 14 16 0.53 intronic rs9993371 LDB2 AU NM_001290 exon2 c.5892-26C>T 0.367212 0.3849 0.399431 0.3858 0.3682 Uncertain 4_16597280_T->A 4 16597280 16597280 T A snp 135.03 1/1 12 4 0 4 1.0 ncRNA_intronic rs1506462 MIR548AX AU 0.998802 1 0.998232 0.9996 1 Uncertain 4_16675898_C->A 4 16675898 16675898 C A snp 3705.77 1/1 99 148 0 148 1.0 intronic rs4698505 LDB2 AU NM_001290 exon6 c.93233+78400C>A 0.842452 0.8423 0.8388 0.8030 Uncertain 4_16676046_A->C 4 16676046 16676046 A C snp 316.78 1/1 24 11 0 11 1.0 intronic rs7699941 LDB2 AU NM_001290 exon6 c.93233+78548A>C 0.465256 0.3869 Uncertain 4_16753863_A->C 4 16753863 16753863 A C snp 162.78 0/1 24 6 1 5 0.83 intronic rs283027 LDB2 AU NM_001290 exon7 c.256515-6917A>C 0.690096 0.6012 Uncertain 4_17492145_T->C 4 17492145 17492145 T C snp 584.77 1/1 45 19 0 19 1.0 intronic rs731437 QDPR AR NM_000320 exon2 c.3531-139T>C 0.625599 0.7113 Uncertain 4_17494054_A->G 4 17494054 17494054 A G snp 2182.77 1/1 99 73 0 73 1.0 intronic rs2597772 QDPR AR NM_000320 exon3 c.5210+91A>G 0.984225 1 Uncertain 4_17503433_C->T 4 17503433 17503433 C T snp 1214.77 0/1 99 103 51 52 0.5 exonic rs3733570 QDPR AR synonymous SNV NM_000320 exon4 c.G345A p.S115S 0.148363 0.4315 0.041442 0.0863 0.4431 1.000 P -1.078 T Likely benign 4_17503551_A->G 4 17503551 17503551 A G snp 732.77 0/1 99 57 29 28 0.49 intronic rs3733572 QDPR AR NM_000320 exon4 c.14729+69A>G 0.141374 0.4315 Uncertain 4_17503561_T->C 4 17503561 17503561 T C snp 672.77 0/1 99 51 24 27 0.53 intronic rs3733573 QDPR AR NM_000320 exon4 c.14729+79T>C 0.192492 0.2579 Uncertain 4_17513499_C->- 4 17513499 17513499 C - indel 2724.73 1/1 99 75 0 75 1.0 intronic rs3217604 QDPR AR NM_000320 exon7 c.24819-73delC 0.59345 0.8998 Uncertain 4_17517099_A->G 4 17517099 17517099 A G snp 2443.77 1/1 99 89 0 89 1.0 exonic rs1551091 CLRN2 AU synonymous SNV NM_001079827 exon1 c.A210G p.K70K 0.982029 1 0.979436 0.9942 1 Uncertain 4_17517125_G->T 4 17517125 17517125 G T snp 940.77 0/1 99 75 34 41 0.55 exonic rs200144103 CLRN2 AU nonsynonymous SNV NM_001079827 exon1 c.G236T p.R79L 0.000199681 0.001 7.503e-05 0.0010 0.02 T 1.000 D 0.210 D 1.0 D 0.999 D Pathogenic 4_17524570_C->G 4 17524570 17524570 C G snp 611.77 0/1 99 51 28 23 0.45 exonic rs13147559 CLRN2 AU nonsynonymous SNV NM_001079827 exon2 c.C337G p.L113V 0.095647 0.0893 0.099171 0.1283 0.0933 0.14 T 0.999 P -0.910 T 0.896 T 0.526 P Pathogenic 4_17581617_T->A 4 17581617 17581617 T A snp 3552.77 1/1 99 125 0 125 1.0 intronic rs10939736 LAP3 AU NM_015907 exon2 c.2474+55T>A 0.634385 0.8542 Uncertain 4_17581644_AG->- 4 17581644 17581645 AG - indel 3140.73 1/1 99 75 0 75 1.0 intronic rs35153429 LAP3 AU NM_015907 exon2 c.2474+82_2474+83delAG 0.54353 0.8532 Uncertain 4_17583201_AA->- 4 17583201 17583202 AA - indel 145.87 1/1 15 5 0 5 1.0 intronic rs397816739 LAP3 AU NM_015907 exon3 c.4294-181_4294-180delAA 0.661342 0.8938 Uncertain 4_17583806_A->C 4 17583806 17583806 A C snp 216.84 1/1 18 6 0 6 1.0 intronic rs2010053 LAP3 AU NM_015907 exon4 c.4822-104A>C 0.634585 0.8542 Uncertain 4_17586703_T->C 4 17586703 17586703 T C snp 2801.77 1/1 99 101 0 101 1.0 exonic rs3733576 LAP3 AU synonymous SNV NM_015907 exon6 c.T648C p.A216A 0.764377 0.9018 0.697678 0.7088 0.9343 Uncertain 4_17586957_A->G 4 17586957 17586957 A G snp 50.74 1/1 6 2 0 2 1.0 intronic rs7670500 LAP3 AU NM_015907 exon6 c.7671+198A>G 0.634585 0.8532 Uncertain 4_17590671_G->A 4 17590671 17590671 G A snp 1937.77 1/1 99 63 2 61 0.97 intronic rs17499929 LAP3 AU NM_015907 exon7 c.11512+71G>A 0.462061 0.7887 Uncertain 4_17590687_T->- 4 17590687 17590687 T - indel 255.19 1/1 4 44 2 42 0.95 intronic rs35467396 LAP3 AU NM_015907 exon7 c.11512+87delT Uncertain 4_17590734_A->T 4 17590734 17590734 A T snp 396.77 1/1 30 11 0 11 1.0 intronic rs11737120 LAP3 AU NM_015907 exon7 c.11512+134A>T 0.634385 0.8532 Uncertain 4_17599894_G->T 4 17599894 17599894 G T snp 372.77 1/1 30 11 0 11 1.0 intronic rs3775927 LAP3 AU NM_015907 exon10 c.20990-184G>T 0.551518 0.8571 Uncertain 4_17608620_A->G 4 17608620 17608620 A G snp 1420.77 1/1 99 52 0 52 1.0 intronic rs4698628 LAP3 AU NM_015907 exon12 c.29473+59A>G 0.610224 0.8552 Uncertain 4_17608884_C->G 4 17608884 17608884 C G snp 1671.77 1/1 99 47 0 47 1.0 intronic rs4698629 LAP3 AU NM_015907 exon13 c.29934-138C>G 0.681909 0.9038 Uncertain 4_17616207_A->G 4 17616207 17616207 A G snp 122.77 0/1 64 6 2 4 0.67 upstream rs550641696 MED28 AU 0.000199681 0.001 Uncertain 4_17616214_C->A 4 17616214 17616214 C A snp 355.74 1/1 6 11 1 10 0.91 upstream rs2286773 MED28 AU 0.634984 0.8552 Uncertain 4_17625209_G->C 4 17625209 17625209 G C snp 673.77 1/1 51 18 0 18 1.0 intronic rs11733730 MED28 AU NM_025205 exon4 c.8946-14G>C 0.637181 0.8552 0.584884 0.6493 0.8951 Uncertain 4_17627294_A->G 4 17627294 17627294 A G snp 3405.77 1/1 99 130 0 130 1.0 downstream rs2315552 MED28 AU 0.482628 0.7927 0.4748 0.8507 0.0 P Uncertain 4_17627332_T->C 4 17627332 17627332 T C snp 3762.77 1/1 99 142 0 142 1.0 downstream rs2315553 MED28 AU 0.637181 0.8552 0.5756 0.9091 Uncertain 4_17634213_A->G 4 17634213 17634213 A G snp 3663.77 1/1 99 146 0 146 1.0 exonic rs6825562 FAM184B AU nonsynonymous SNV NM_015688 exon18 c.T3125C p.V1042A 0.988618 1 0.9960 1 1 T 0.000 P -0.967 T 0.0 T 0.0 T Pathogenic 4_17634255_G->A 4 17634255 17634255 G A snp 2741.77 1/1 99 106 0 106 1.0 intronic rs6847966 FAM184B AU NM_015688 exon1 c.94+7G>A 0.636981 0.8552 0.6016 0.8617 Uncertain 4_17634256_-->AA 4 17634256 17634256 - AA indel 3674.73 1/1 99 104 0 104 1.0 intronic rs142873186 FAM184B AU NM_015688 exon1 c.94+8insAA 0.477530 0.5647 0.8497 Uncertain 4_17634442_G->T 4 17634442 17634442 G T snp 99.28 1/1 9 3 0 3 1.0 intronic rs6848360 FAM184B AU NM_015688 exon1 c.94+194G>T 0.636781 0.8552 Uncertain 4_17635557_AAAAT->- 4 17635557 17635561 AAAAT - indel 1110.73 1/1 45 17 0 17 1.0 intronic rs140729140 FAM184B AU NM_015688 exon2 c.1357+46_1357+50delAAAAT 0.428136 0.5620 0.8511 Uncertain 4_17636507_-->T 4 17636507 17636507 - T indel 184.75 1/1 24 8 0 8 1.0 intronic rs3214318 FAM184B AU NM_015688 exon3 c.2477-124insT 0.504593 0.7292 Uncertain 4_17640858_C->T 4 17640858 17640858 C T snp 5294.77 1/1 99 207 0 207 1.0 intronic rs6811887 FAM184B AU NM_015688 exon5 c.6718-14C>T 0.550519 0.8562 0.505256 0.5750 0.8729 Uncertain 4_17643620_G->A 4 17643620 17643620 G A snp 99.28 1/1 9 4 0 4 1.0 intronic rs28501187 FAM184B AU NM_015688 exon6 c.9524-58G>A 0.550319 0.8552 Uncertain 4_17643848_G->A 4 17643848 17643848 G A snp 643.77 1/1 48 27 0 27 1.0 exonic rs2286771 FAM184B AU nonsynonymous SNV NM_015688 exon13 c.C2350T p.R784W 0.538538 0.8522 0.6618 0.9074 0.01 T 0.0 P -0.903 T 0.978 D 0.339 D Pathogenic 4_17649233_T->G 4 17649233 17649233 T G snp 1004.77 1/1 72 35 0 35 1.0 intronic rs3733577 FAM184B AU NM_015688 exon7 c.15105-26T>G 0.64976 0.8552 0.6211 0.8686 Uncertain 4_17649494_T->C 4 17649494 17649494 T C snp 873.77 1/1 66 38 0 38 1.0 intronic rs6813374 FAM184B AU NM_015688 exon7 c.15260+80T>C 0.634784 0.8552 Uncertain 4_17649499_T->G 4 17649499 17649499 T G snp 1069.77 1/1 78 38 0 38 1.0 intronic rs6813375 FAM184B AU NM_015688 exon7 c.15260+85T>G 0.635583 0.8552 Uncertain 4_17654648_T->C 4 17654648 17654648 T C snp 2074.77 1/1 99 76 0 76 1.0 intronic rs3815413 FAM184B AU NM_015688 exon8 c.20452+42T>C 0.635383 0.8552 0.596802 0.5961 0.8702 Uncertain 4_17659936_G->T 4 17659936 17659936 G T snp 2152.77 1/1 99 76 0 76 1.0 intronic rs10939742 FAM184B AU NM_015688 exon9 c.25818-36G>T 0.541134 0.8522 0.504161 0.5566 0.8661 Uncertain 4_17660082_C->T 4 17660082 17660082 C T snp 2396.77 1/1 99 82 0 82 1.0 exonic rs1860596 FAM184B AU nonsynonymous SNV NM_015688 exon10 c.G1928A p.R643H 0.604433 0.8522 0.579720 0.5824 0.8657 0.09 T 0.0 P -0.967 T 0.001 T 0.001 T Pathogenic 4_17660237_T->C 4 17660237 17660237 T C snp 224.84 1/1 18 6 0 6 1.0 intronic rs2302391 FAM184B AU NM_015688 exon9 c.26031+52T>C 0.660343 0.8552 0.624836 Uncertain 4_17666297_G->A 4 17666297 17666297 G A snp 150.77 0/1 99 43 28 15 0.35 intronic rs775669677 FAM184B AU NM_015688 exon11 c.32128+15G>A 0.3989 0.4028 Uncertain 4_17666303_G->A 4 17666303 17666303 G A snp 129.77 0/1 99 38 25 13 0.34 intronic FAM184B AU NM_015688 exon11 c.32128+21G>A 0.3784 0.3657 Uncertain 4_17689902_T->- 4 17689902 17689902 T - indel 102.87 1/1 15 5 0 5 1.0 intronic rs11306510 FAM184B AU NM_015688 exon12 c.55892-144delT 0.955471 0.999 Uncertain 4_17689974_T->C 4 17689974 17689974 T C snp 459.77 1/1 36 17 0 17 1.0 intronic rs4698646 FAM184B AU NM_015688 exon12 c.55892-72T>C 0.973642 1 Uncertain 4_17694880_G->C 4 17694880 17694880 G C snp 1723.77 1/1 99 55 0 55 1.0 intronic rs6449324 FAM184B AU NM_015688 exon13 c.60770-44G>C 0.643371 0.8482 0.586071 0.6004 0.8473 Uncertain 4_17694916_A->G 4 17694916 17694916 A G snp 3156.77 1/1 99 108 0 108 1.0 intronic rs3822235 FAM184B AU NM_015688 exon13 c.60770-8A>G 0.663339 0.8948 0.6180 0.8939 Uncertain 4_17694943_A->G 4 17694943 17694943 A G snp 4288.77 1/1 99 152 0 152 1.0 exonic rs3733579 FAM184B AU synonymous SNV NM_015688 exon6 c.T1470C p.L490L 0.658946 0.8948 0.6079 0.8939 Uncertain 4_17707032_G->A 4 17707032 17707032 G A snp 48.74 1/1 6 2 0 2 1.0 intronic rs1122696 FAM184B AU NM_015688 exon14 c.72675+203G>A 0.970647 1 Uncertain 4_17707301_C->T 4 17707301 17707301 C T snp 412.77 1/1 33 12 0 12 1.0 intronic rs72619125 FAM184B AU NM_015688 exon15 c.73220-73C>T 0.323682 0.5446 Uncertain 4_17805379_G->A 4 17805379 17805379 G A snp 2465.77 0/1 99 196 102 94 0.48 exonic rs7690457 DCAF16 AU nonsynonymous SNV NM_017741 exon3 c.C386T p.T129I 0.115815 0.1002 0.094495 0.0589 0.1288 0 D 0.0 P -0.965 T 0.0 T 0.0 T Pathogenic 4_17812615_A->C 4 17812615 17812615 A C snp 1112.77 1/1 78 45 0 45 1.0 UTR5 rs2074974 NCAPG AU 0.690096 0.5427 Uncertain 4_17812796_C->T 4 17812796 17812796 C T snp 309.77 0/1 99 27 12 15 0.56 exonic rs16895792 NCAPG AU synonymous SNV NM_022346 exon1 c.C96T p.S32S 0.0547125 0.0903 0.027992 0.0699 0.1713 Uncertain 4_17841465_A->G 4 17841465 17841465 A G snp 347.77 0/1 99 43 26 17 0.4 splicing rs2286537 NCAPG AU NM_022346 exon17 c.28760+5A>G 0.196286 0.4603 0.140341 0.2113 0.4710 Pathogenic 4_17841948_T->A 4 17841948 17841948 T A snp 185.9 1/1 15 8 0 8 1.0 intronic rs2286534 NCAPG AU NM_022346 exon18 c.29132+116T>A 0.647764 0.5397 Uncertain 4_17844029_G->A 4 17844029 17844029 G A snp 5069.77 1/1 99 198 0 198 1.0 intronic rs17585261 NCAPG AU NM_022346 exon20 c.31302+27G>A 0.6248 0.7827 0.528303 0.4933 0.7948 Uncertain 4_17845238_G->C 4 17845238 17845238 G C snp 133.03 1/1 12 4 0 4 1.0 UTR3 rs7688403 LCORL AU 0.625399 0.7827 Uncertain 4_17875736_CTC->- 4 17875736 17875738 CTC - indel 5954.73 0/1 99 250 133 117 0.47 intronic rs375009452 LCORL AU NM_153686 exon2 c.40347-11954_40347-11952delCTC 0.28754 0.4673 Uncertain 4_17885296_-->AC 4 17885296 17885296 - AC indel 705.73 ./1 99 23 2 21 0.91 UTR3 rs139656197 LCORL AU 0.5038 0.4599 Uncertain 4_17885297_AC->- 4 17885297 17885298 AC - indel 705.73 ./1 99 23 2 21 0.91 UTR3 rs764652984 LCORL AU 0.036666 0.0186 0.0330 Uncertain 4_17961921_GATG->- 4 17961921 17961924 GATG - indel 7016.73 0/1 99 191 87 104 0.54 intronic LCORL AU NM_153686 exon4 c.116182-1604_116182-1601delGATG Uncertain 4_20256722_G->A 4 20256722 20256722 G A snp 3192.79 1/1 99 100 0 100 1.0 intronic rs1323066 SLIT2 AU NM_001289136 exon1 c.179+1105G>A 0.809105 0.9563 0.7786 0.9615 Uncertain 4_20270600_G->A 4 20270600 20270600 G A snp 1911.77 1/1 99 57 1 56 0.98 intronic rs2196476 SLIT2 AU NM_001289136 exon4 c.15066+96G>A 0.591653 0.8482 Uncertain 4_20482251_G->T 4 20482251 20482251 G T snp 380.77 0/1 99 21 9 12 0.57 intronic rs2125207 SLIT2 AU NM_001289136 exon6 c.226900-87G>T 0.0513179 0.0595 Uncertain 4_20482627_A->T 4 20482627 20482627 A T snp 274.77 0/1 91 11 3 8 0.73 intronic rs2168800 SLIT2 AU NM_001289136 exon6 c.226972+217A>T 0.0453275 0.0595 Uncertain 4_20490710_T->G 4 20490710 20490710 T G snp 600.77 1/1 45 18 0 18 1.0 intronic rs543593 SLIT2 AU NM_001289135 exon8 c.235179+93T>G 0.8125 0.9583 Uncertain 4_20492380_A->G 4 20492380 20492380 A G snp 1197.77 0/1 99 91 45 46 0.51 intronic rs485909 SLIT2 AU NM_001289136 exon9 c.237945-1003A>G 0.335264 0.4891 0.3487 0.5455 Uncertain 4_20493225_C->T 4 20493225 20493225 C T snp 46.77 0/1 31 3 1 2 0.67 intronic rs620681 SLIT2 AU NM_001289136 exon9 c.237945-158C>T 0.308706 0.4425 Uncertain 4_20520993_T->C 4 20520993 20520993 T C snp 1755.77 1/1 99 68 0 68 1.0 intronic rs519813 SLIT2 AU NM_001289136 exon12 c.265566-11T>C 0.923323 0.9911 0.877771 0.9029 0.9891 Uncertain 4_20526985_-->AT 4 20526985 20526985 - AT indel 191.87 1/1 15 5 0 5 1.0 intronic rs146437952 SLIT2 AU NM_004787 exon15 c.271357+190insAT 0.998403 1 Uncertain 4_20541006_G->- 4 20541006 20541006 G - indel 2612.73 0/1 99 163 84 79 0.48 intronic rs35993588 SLIT2 AU NM_001289136 exon18 c.285625-57delG 0.248802 0.2103 Uncertain 4_20541008_C->A 4 20541008 20541008 C A snp 1946.77 0/1 99 166 85 81 0.49 intronic rs3842004 SLIT2 AU NM_001289136 exon18 c.285625-55C>A 0.249401 0.2113 Uncertain 4_20547838_C->T 4 20547838 20547838 C T snp 523.77 1/1 39 20 0 20 1.0 intronic rs2292439 SLIT2 AU NM_001289136 exon21 c.292284+116C>T 0.541534 0.7847 Uncertain 4_20611629_G->A 4 20611629 20611629 G A snp 657.77 0/1 99 60 29 31 0.52 intronic rs3733510 SLIT2 AU NM_001289136 exon33 c.356197-6G>A 0.0726837 0.124 0.037906 0.0590 0.1380 Uncertain 4_20620683_G->A 4 20620683 20620683 G A snp 994.77 1/1 72 33 0 33 1.0 UTR3 rs1379659 SLIT2 AU 0.882987 0.8323 0.854529 0.8448 0.8371 Uncertain 4_20703376_C->T 4 20703376 20703376 C T snp 676.77 0/1 99 54 23 31 0.57 intronic rs2874831 PACRGL AU 0.13758 0.0784 Uncertain 4_20704056_T->C 4 20704056 20704056 T C snp 123.78 0/1 27 5 1 4 0.8 intronic rs964019 PACRGL AU 0.47504 0.2609 Uncertain 4_20709238_-->A 4 20709238 20709238 - A indel 689.73 0/1 99 42 18 24 0.57 intronic rs35495469 PACRGL AU NM_001258345 exon4 c.3321-187insA 0.495607 0.2609 Uncertain 4_20709411_C->T 4 20709411 20709411 C T snp 775.77 0/1 99 83 49 34 0.41 intronic rs57364495 PACRGL AU NM_001258345 exon4 c.3321-14C>T 0.13758 0.0784 0.168051 0.1733 0.0932 Uncertain 4_20733708_-->A 4 20733708 20733708 - A indel 1086.73 0/1 99 78 39 39 0.5 intronic rs111474115 KCNIP4 AU NM_147182 exon2 c.1987+17insA 0.486821 0.2708 0.532438 0.4786 0.2728 Uncertain 4_20734176_C->G 4 20734176 20734176 C G snp 1024.77 0/1 99 62 26 36 0.58 intronic rs6811933 KCNIP4 AU NM_147182 exon3 c.2599-127C>G 0.489417 0.2103 Uncertain 4_20760683_A->G 4 20760683 20760683 A G snp 612.77 1/1 48 19 0 19 1.0 intronic rs17623902 KCNIP4 AU NM_147182 exon6 c.28809+170A>G 0.745008 0.6736 Uncertain 4_21305721_A->G 4 21305721 21305721 A G snp 31.77 0/1 60 4 2 2 0.5 intergenic KCNIP4 AU Uncertain 4_21950259_A->G 4 21950259 21950259 A G snp 6040.77 1/1 99 238 0 238 1.0 intergenic rs6448102 KCNIP4-IT1 AU 1 1 0.999919 0.9999 1 Uncertain 4_22390167_C->T 4 22390167 22390167 C T snp 2159.77 0/1 99 206 113 93 0.45 exonic rs9002 ADGRA3 AU nonsynonymous SNV NM_145290 exon19 c.G3127A p.V1043M 0.268371 0.2272 0.234661 0.2324 0.2219 0.23 T 1.000 P -1.004 T 0.035 T 0.02 T Pathogenic 4_22404443_C->T 4 22404443 22404443 C T snp 1309.77 0/1 99 122 63 59 0.48 intronic rs3733312 ADGRA3 AU NM_145290 exon5 c.15095+21C>T 0.148363 0.2976 0.062202 0.0754 0.2811 Uncertain 4_22404455_T->C 4 22404455 22404455 T C snp 1155.77 0/1 99 112 61 51 0.46 intronic rs3733311 ADGRA3 AU NM_145290 exon5 c.15095+33T>C 0.148562 0.2986 0.062048 0.0752 0.2808 Uncertain 4_22414708_A->C 4 22414708 22414708 A C snp 73.77 0/1 30 4 1 3 0.75 intronic rs7697042 ADGRA3 AU NM_145290 exon6 c.25477-96A>C 0.578674 0.6002 Uncertain 4_22416076_C->T 4 22416076 22416076 C T snp 90.28 1/1 9 3 0 3 1.0 intronic rs9992521 ADGRA3 AU NM_145290 exon7 c.26110+639C>T 0.273962 0.3383 Uncertain 4_22416133_C->G 4 22416133 22416133 C G snp 196.77 0/1 99 19 11 8 0.42 intronic rs7658234 ADGRA3 AU NM_145290 exon7 c.26110+696C>G 0.580871 0.6419 Uncertain 4_22416195_C->G 4 22416195 22416195 C G snp 563.77 0/1 99 52 29 23 0.44 intronic rs13106386 ADGRA3 AU NM_145290 exon7 c.26110+758C>G 0.579473 0.6438 0.6821 0.6414 Uncertain 4_22425877_A->G 4 22425877 22425877 A G snp 630.77 0/1 99 69 39 30 0.43 exonic rs61744997 ADGRA3 AU synonymous SNV NM_145290 exon11 c.T1542C p.I514I 0.105631 0.2351 0.032908 0.0675 0.2343 Uncertain 4_22439914_A->C 4 22439914 22439914 A C snp 112.77 0/1 99 18 12 6 0.33 exonic rs6823735 ADGRA3 AU synonymous SNV NM_145290 exon8 c.T1050G p.P350P 0.549521 0.6151 0.604029 0.6781 0.6525 Uncertain 4_22440072_G->A 4 22440072 22440072 G A snp 244.77 0/1 99 18 7 11 0.61 intronic rs73245201 ADGRA3 AU NM_145290 exon12 c.50716+29G>A 0.0169728 0.0377 0.012917 0.0188 0.0342 Uncertain 4_22444335_G->A 4 22444335 22444335 G A snp 1015.77 0/1 99 69 34 35 0.51 exonic rs35762546 ADGRA3 AU synonymous SNV NM_145290 exon7 c.C858T p.T286T 0.01877 0.0377 0.015147 0.0169 0.0292 Uncertain 4_22444692_C->T 4 22444692 22444692 C T snp 1725.77 1/1 99 64 0 64 1.0 intronic rs10018144 ADGRA3 AU NM_145290 exon13 c.55159+206C>T 0.975439 1 0.9925 1 Uncertain 4_22457478_C->T 4 22457478 22457478 C T snp 1865.77 0/1 99 173 88 85 0.49 intronic rs16872669 ADGRA3 AU NM_145290 exon16 c.67233+918C>T 0.54393 0.6181 0.6502 0.6566 Uncertain 4_22715639_A->G 4 22715639 22715639 A G snp 784.77 1/1 57 25 0 25 1.0 intronic rs1963996 GBA3 AU NM_020973 exon1 c.58+20943A>G 0.760184 0.5942 Uncertain 4_22820504_A->T 4 22820504 22820504 A T snp 2285.77 1/1 99 83 0 83 1.0 exonic rs358231 GBA3 AU unknown 0.891573 0.7996 0.883924 0.8653 0.7789 Uncertain 4_22820676_T->G 4 22820676 22820676 T G snp 56.74 1/1 6 2 0 2 1.0 UTR3 rs5015834 GBA3 AU 0.865016 0.7996 Uncertain 4_23814707_G->A 4 23814707 23814707 G A snp 1335.77 0/1 99 95 41 54 0.57 exonic rs3736265 PPARGC1A AU nonsynonymous SNV NM_013261 exon9 c.C1835T p.T612M 0.109425 0.1726 0.057051 0.0828 0.1818 0.06 T 0.0 P -1.076 T 0.0 T 0.0 T ID=CM013960;DIS=Diabetes, type 2, lower risk, association with;TAG=DP;PUB=11793024 DP Pathogenic 4_23815522_C->T 4 23815522 23815522 C T snp 3002.77 0/1 99 250 134 116 0.46 exonic rs3755863 PPARGC1A AU synonymous SNV NM_013261 exon8 c.G1584A p.T528T 0.352236 0.4454 0.350915 0.3720 0.4342 ID=CM035706;DIS=Diabetes, type 2, association with;TAG=DP;PUB=14551916 DP Uncertain 4_23815662_C->T 4 23815662 23815662 C T snp 3722.77 0/1 99 249 112 137 0.55 exonic rs8192678 PPARGC1A AU nonsynonymous SNV NM_013261 exon8 c.G1444A p.G482S 0.265775 0.4425 0.264724 0.3081 0.4328 1 T 1.0 P -0.944 T 0.053 T 0.004 T ID=CM013959;DIS=Diabetes, type 2, association with;TAG=DP;PUB=11793024 DP Pathogenic 4_23815924_T->C 4 23815924 23815924 T C snp 3826.77 1/1 99 131 0 131 1.0 exonic rs2970847 PPARGC1A AU synonymous SNV NM_013261 exon8 c.A1182G p.T394T 0.879193 0.7798 0.852991 0.8365 0.7709 ID=CM013958;DIS=Diabetes, type 2, lower risk, association with;TAG=DP;PUB=11793024 DP Uncertain 4_23830238_A->G 4 23830238 23830238 A G snp 936.77 0/1 99 100 58 42 0.42 intronic rs2290604 PPARGC1A AU NM_013261 exon9 c.32783+11A>G 0.117013 0.1865 0.065278 0.0977 0.1926 Uncertain 4_23886323_G->T 4 23886323 23886323 G T snp 763.77 0/1 99 68 41 27 0.4 intronic rs2946385 PPARGC1A AU NM_013261 exon12 c.88930-51G>T 0.383586 0.3413 0.435124 0.3865 0.3802 Uncertain 4_24801354_C->T 4 24801354 24801354 C T snp 4267.77 1/1 99 150 2 148 0.99 exonic rs8192291 SOD3 AU synonymous SNV NM_003102 exon2 c.C211T p.L71L 0.198482 0.3512 0.130537 0.2498 0.4714 Uncertain 4_24809884_T->C 4 24809884 24809884 T C snp 309.78 1/1 24 10 0 10 1.0 UTR3 rs1019229 CCDC149 AU 0.908546 0.9107 Uncertain 4_24810094_G->A 4 24810094 24810094 G A snp 2208.77 0/1 99 160 72 88 0.55 exonic rs74764772 CCDC149 AU nonsynonymous SNV NM_001130726 exon12 c.C1507T p.R503W 0.0349441 0.1349 0.0196 0.1531 0.01 T 0.000 P -1.084 T 0.968 D 0.219 D Pathogenic 4_24896473_G->A 4 24896473 24896473 G A snp 599.77 0/1 99 49 26 23 0.47 intronic rs59796303 CCDC149 AU NM_173463 exon12 c.86603-140G>A 0.160743 0.1488 Uncertain 4_24896580_C->T 4 24896580 24896580 C T snp 1527.77 0/1 99 153 84 69 0.45 intronic rs59614850 CCDC149 AU NM_173463 exon12 c.86603-33C>T 0.212061 0.1925 0.2231 0.1731 Uncertain 4_24896658_C->T 4 24896658 24896658 C T snp 1556.77 0/1 99 127 63 64 0.5 exonic rs12511068 CCDC149 AU nonsynonymous SNV NM_173463 exon2 c.G19A p.V7I 0.160144 0.1458 0.1987 0.1204 0 D 0.0 P -1.004 T Pathogenic 4_24914611_G->A 4 24914611 24914611 G A snp 106.77 0/1 99 13 8 5 0.38 intronic rs75351733 CCDC149 AU NM_001130726 exon12 c.104590+11G>A 0.163139 0.0456 Uncertain 4_25001439_T->C 4 25001439 25001439 T C snp 850.77 0/1 99 94 55 39 0.41 UTR3 rs7689760 LGI2 AU 0.57508 0.7986 0.5589 0.8060 Uncertain 4_25001576_C->T 4 25001576 25001576 C T snp 1284.77 0/1 99 144 83 61 0.42 UTR3 rs7665497 LGI2 AU 0.574481 0.7986 0.5586 0.8125 Uncertain 4_25001578_C->T 4 25001578 25001578 C T snp 1242.77 0/1 99 143 83 60 0.42 UTR3 rs7665498 LGI2 AU 0.574481 0.7986 0.5556 0.8175 Uncertain 4_25001632_T->A 4 25001632 25001632 T A snp 773.77 0/1 99 100 64 36 0.36 UTR3 rs7690185 LGI2 AU 0.574481 0.7986 Uncertain 4_25001685_A->C 4 25001685 25001685 A C snp 288.77 0/1 99 40 27 13 0.33 UTR3 rs7670138 LGI2 AU 0.574481 0.7986 Uncertain 4_25005023_C->T 4 25005023 25005023 C T snp 248.77 0/1 99 17 8 9 0.53 UTR3 rs2232029 LGI2 AU 0.268171 0.3919 0.161323 0.2168 0.3941 Uncertain 4_25005193_G->A 4 25005193 25005193 G A snp 3466.77 1/1 99 128 0 128 1.0 exonic rs2232028 LGI2 AU synonymous SNV NM_018176 exon8 c.C1518T p.Y506Y 0.765775 0.9742 0.587652 0.6006 0.9735 Uncertain 4_25005994_C->T 4 25005994 25005994 C T snp 126.77 0/1 99 17 11 6 0.35 intronic rs2232023 LGI2 AU NM_018176 exon1 c.818+104C>T 0.0984425 0.1171 Uncertain 4_25030312_G->C 4 25030312 25030312 G C snp 564.77 1/1 42 19 0 19 1.0 intronic rs10021870 LGI2 AU NM_018176 exon7 c.25128+112G>C 0.374201 0.5387 Uncertain 4_25125703_C->G 4 25125703 25125703 C G snp 1843.77 0/1 99 179 103 76 0.42 exonic rs2302566 SEPSECS AR nonsynonymous SNV NM_016955 exon11 c.G1356C p.K452N 0.11222 0.1101 0.076899 0.0668 0.1224 0.19 T 1.000 P -0.825 T 0.995 D 0.912 D CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000118326.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 4_25146307_G->A 4 25146307 25146307 G A snp 391.77 1/1 30 10 0 10 1.0 intronic rs2302565 SEPSECS AR NM_016955 exon4 c.20843-88G>A 0.585463 0.494 Uncertain 4_25156483_A->G 4 25156483 25156483 A G snp 93.28 1/1 9 3 0 3 1.0 intronic rs3733548 SEPSECS AR NM_016955 exon7 c.31067-136A>G 0.272165 0.1657 Uncertain 4_25235801_G->A 4 25235801 25235801 G A snp 468.77 0/1 99 42 21 21 0.5 exonic rs10021593 PI4K2B AU nonsynonymous SNV NM_018323 exon1 c.G16A p.E6K 0.101238 0.1121 0.058572 0.2877 0.3808 0.22 T 0.008 P -1.018 T 0.999 D 0.959 D Pathogenic 4_25236017_T->C 4 25236017 25236017 T C snp 141.03 1/1 12 5 0 5 1.0 exonic rs313549 PI4K2B AU nonsynonymous SNV NM_018323 exon1 c.T232C p.S78P 0.621605 0.6558 0.5399 0.5 0.37 T 0.0 P -0.930 T 0.0 T 0.0 T Pathogenic 4_25253873_C->T 4 25253873 25253873 C T snp 1600.77 0/1 99 120 56 64 0.53 intronic rs10939044 PI4K2B AU NM_018323 exon2 c.18157-69C>T 0.0253594 0.0704 Uncertain 4_25253995_C->T 4 25253995 25253995 C T snp 7060.77 1/1 99 250 0 250 1.0 exonic rs313567 PI4K2B AU synonymous SNV NM_018323 exon2 c.C321T p.A107A 0.789537 0.6806 0.832923 0.8272 0.6995 Uncertain 4_25258482_G->A 4 25258482 25258482 G A snp 109.77 0/1 99 8 4 4 0.5 intronic rs4697557 PI4K2B AU NM_018323 exon4 c.22511+186G>A 0.102636 0.1032 Uncertain 4_25315616_G->A 4 25315616 25315616 G A snp 985.77 0/1 99 52 17 35 0.67 intronic rs73252577 ZCCHC4 AU NM_024936 exon2 c.1236-51G>A 0.109824 0.1587 0.078130 Uncertain 4_25315637_-->T 4 25315637 25315637 - T indel 361.73 0/1 25 56 5 51 0.91 intronic rs199972003 ZCCHC4 AU NM_024936 exon2 c.1236-30insT 0.2484 0.3708 Uncertain 4_25316815_T->C 4 25316815 25316815 T C snp 918.77 1/1 69 28 0 28 1.0 intronic rs12508686 ZCCHC4 AU NM_024936 exon3 c.2508-124T>C 0.42512 0.3433 Uncertain 4_25363901_T->A 4 25363901 25363901 T A snp 3241.77 1/1 99 122 1 121 0.99 exonic rs315675 ZCCHC4 AU nonsynonymous SNV NM_024936 exon10 c.T1187A p.L396H 0.876398 0.7391 0.919584 0.8744 0.7653 0.14 T 0.000 P -0.978 T 0.0 T 0.0 T Pathogenic 4_25370962_A->T 4 25370962 25370962 A T snp 678.77 1/1 51 20 0 20 1.0 UTR3 rs315689 ZCCHC4 AU 0.93131 0.9216 Uncertain 4_25391584_G->A 4 25391584 25391584 G A snp 110.77 0/1 64 6 2 4 0.67 intronic rs186408 ANAPC4 AU NM_013367 exon8 c.12708-173G>A 0.852835 0.6716 Uncertain 4_25393889_C->T 4 25393889 25393889 C T snp 667.77 0/1 99 72 42 30 0.42 intronic rs2292407 ANAPC4 AU NM_013367 exon10 c.14910-70C>T 0.323283 0.1766 Uncertain 4_25394078_A->G 4 25394078 25394078 A G snp 254.77 0/1 99 20 10 10 0.5 intronic rs2292408 ANAPC4 AU NM_013367 exon10 c.14994+35A>G 0.323283 0.1766 0.435221 0.4607 0.1705 Uncertain 4_25395674_C->A 4 25395674 25395674 C A snp 473.77 0/1 99 26 12 14 0.54 intronic rs17605267 ANAPC4 AU NM_013367 exon11 c.16464+161C>A 0.323283 0.1766 Uncertain 4_25404553_C->T 4 25404553 25404553 C T snp 781.77 0/1 99 93 53 40 0.43 intronic rs10023139 ANAPC4 AU NM_013367 exon17 c.25543-39C>T 0.514976 0.3571 0.590137 0.5729 0.3595 Uncertain 4_25408516_T->A 4 25408516 25408516 T A snp 444.77 0/1 99 53 30 23 0.43 intronic rs3214034 ANAPC4 AU NM_013367 exon19 c.29458+9T>A 0.300919 0.1845 0.401853 0.4569 0.1800 Uncertain 4_25411202_T->G 4 25411202 25411202 T G snp 119.77 0/1 97 7 3 4 0.57 intronic rs2305953 ANAPC4 AU NM_013367 exon21 c.32270-117T>G 0.300919 0.1845 Uncertain 4_25417244_C->T 4 25417244 25417244 C T snp 248.77 0/1 99 13 5 8 0.62 intronic rs3816587 ANAPC4 AU NM_013367 exon26 c.38113+82C>T 0.455072 0.3056 Uncertain 4_25418331_T->G 4 25418331 25418331 T G snp 110.77 0/1 99 10 6 4 0.4 intronic rs1017716 ANAPC4 AU NM_013367 exon27 c.39171+111T>G 0.435304 0.4474 Uncertain 4_25419283_T->C 4 25419283 25419283 T C snp 1802.77 0/1 99 154 75 79 0.51 exonic rs9174 ANAPC4 AU synonymous SNV NM_001286756 exon28 c.T2124C p.F708F 0.502396 0.3075 0.602184 0.5540 0.3131 Uncertain 4_25664244_G->A 4 25664244 25664244 G A snp 2734.77 0/1 99 233 113 120 0.52 intronic rs4697597 SLC34A2 AR NM_001177999 exon2 c.112+10G>A 0.121605 0.2857 0.042750 0.0708 0.2568 Uncertain 4_25674906_CACA->- 4 25674906 25674909 CACA - indel 525.75 1/1 24 18 0 18 1.0 intronic rs778277939 SLC34A2 AR NM_001177999 exon10 c.10754+30_10754+33delCACA 0.890121 0.8978 0.9942 Uncertain 4_25674911_-->AGGGA 4 25674911 25674911 - AGGGA indel 554.77 1/1 21 7 0 7 1.0 intronic rs372725249 SLC34A2 AR NM_001177999 exon10 c.10754+35insAGGGA 0.8932 0.9938 Uncertain 4_25674913_A->G 4 25674913 25674913 A G snp 219.84 1/1 18 7 0 7 1.0 intronic rs62409436 SLC34A2 AR NM_001177999 exon10 c.10754+37A>G 0.9023 0.9941 Uncertain 4_25678199_A->G 4 25678199 25678199 A G snp 5286.77 1/1 99 176 0 176 1.0 exonic rs6448389 SLC34A2 AR nonsynonymous SNV NM_006424 exon13 c.A1901G p.D634G 0.910743 0.997 0.875980 0.8643 0.9990 1 T 0.0 P -0.970 T 0.0 T 0.0 T Pathogenic 4_25678396_G->T 4 25678396 25678396 G T snp 931.77 0/1 99 82 44 38 0.46 UTR3 rs3733545 SLC34A2 AR 0.319888 0.5794 0.234123 0.2572 0.5753 Uncertain 4_25758580_G->A 4 25758580 25758580 G A snp 3535.77 1/1 99 101 0 101 1.0 intronic rs4401441 SEL1L3 AU NM_001297592 exon2 c.9109-575G>A 0.882388 0.999 0.8524 1 Uncertain 4_25759110_T->- 4 25759110 25759110 T - indel 222.19 0/1 4 16 2 14 0.88 intronic rs11352729 SEL1L3 AU NM_001297592 exon2 c.9109-45delT 0.722244 0.9484 0.066584 0.4802 0.5926 Uncertain 4_25759298_C->G 4 25759298 25759298 C G snp 1403.77 0/1 99 113 52 61 0.54 intronic rs2286867 SEL1L3 AU NM_001297592 exon3 c.9263-11C>G 0.142971 0.1141 0.109107 0.1393 0.2369 Uncertain 4_25760693_A->G 4 25760693 25760693 A G snp 959.77 0/1 99 86 48 38 0.44 splicing rs2276954 SEL1L3 AU NM_001297592 exon4 c.10644+3A>G 0.192692 0.2361 0.175999 0.2117 0.2155 Pathogenic 4_25767133_A->T 4 25767133 25767133 A T snp 256.77 0/1 99 19 9 10 0.53 intronic rs6823220 SEL1L3 AU NM_001297592 exon5 c.17011+76A>T 0.350439 0.5407 Uncertain 4_25767183_G->A 4 25767183 25767183 G A snp 203.84 1/1 18 6 0 6 1.0 intronic rs4697616 SEL1L3 AU NM_001297592 exon5 c.17011+126G>A 0.651558 0.7768 Uncertain 4_25769129_C->G 4 25769129 25769129 C G snp 1566.77 0/1 99 148 82 66 0.45 intronic rs2290575 SEL1L3 AU NM_001297592 exon6 c.19100-17C>G 0.205272 0.2421 0.121873 0.3031 0.3160 Uncertain 4_25769130_C->G 4 25769130 25769130 C G snp 1564.77 0/1 99 149 83 66 0.44 intronic rs2290576 SEL1L3 AU NM_001297592 exon6 c.19100-16C>G 0.205272 0.2421 0.115658 0.3034 0.3154 Uncertain 4_25769135_T->C 4 25769135 25769135 T C snp 1926.77 0/1 99 163 75 88 0.54 intronic rs2290577 SEL1L3 AU NM_001297592 exon6 c.19100-11T>C 0.547324 0.5655 0.555509 0.5813 0.6274 Uncertain 4_25769319_T->C 4 25769319 25769319 T C snp 2984.77 0/1 99 246 117 129 0.52 intronic rs2290578 SEL1L3 AU NM_001297592 exon7 c.19315-42T>C 0.205072 0.2411 0.187709 0.2640 0.2681 Uncertain 4_25769327_A->G 4 25769327 25769327 A G snp 2752.77 0/1 99 239 115 124 0.52 intronic rs2290579 SEL1L3 AU NM_001297592 exon7 c.19315-34A>G 0.204872 0.2411 0.190950 0.2745 0.2817 Uncertain 4_25780547_G->T 4 25780547 25780547 G T snp 104.78 0/1 27 5 1 4 0.8 intronic rs13121401 SEL1L3 AU NM_001297592 exon9 c.30651-150G>T 0.455871 0.376 Uncertain 4_25780599_C->T 4 25780599 25780599 C T snp 477.77 0/1 99 34 17 17 0.5 intronic rs13121073 SEL1L3 AU NM_001297592 exon9 c.30651-98C>T 0.45627 0.376 Uncertain 4_25780891_A->G 4 25780891 25780891 A G snp 276.77 0/1 99 30 19 11 0.37 intronic rs4697619 SEL1L3 AU NM_001297592 exon9 c.30779+66A>G 0.677516 0.377 Uncertain 4_25803830_A->G 4 25803830 25803830 A G snp 37.77 0/1 66 4 2 2 0.5 intronic rs3733543 SEL1L3 AU NM_001297592 exon14 c.53858-74A>G 0.659944 0.371 Uncertain 4_25849477_G->A 4 25849477 25849477 G A snp 987.77 0/1 99 63 27 36 0.57 exonic rs201512920 SEL1L3 AU nonsynonymous SNV NM_001297592 exon2 c.C67T p.P23S 0.000199681 0.001 2.324e-05 0.0003 0.02 T 1.000 D -1.170 T 0.919 T 0.477 D Pathogenic 4_25915648_G->A 4 25915648 25915648 G A snp 1237.77 0/1 99 109 58 51 0.47 upstream rs2305669 SMIM20 AU 0.474441 0.4187 0.4977 0.5075 0 D 0.000 P -0.976 T Uncertain 4_25915957_G->A 4 25915957 25915957 G A snp 2711.77 0/1 99 248 134 114 0.46 exonic rs4521339 SMIM20 AU nonsynonymous SNV NM_001145432 exon1 c.G22A p.A8T 0.0203674 0.0585 0.000438 0.0052 0.0524 0.15 T 1 N -1.102 T 0.44 T 0.037 T Pathogenic 4_25930928_A->G 4 25930928 25930928 A G snp 1091.77 0/1 99 60 24 36 0.6 UTR3 rs14553 SMIM20 AU 0.173722 0.3135 Uncertain 4_25948424_C->T 4 25948424 25948424 C T snp 765.77 0/1 99 75 41 34 0.45 intergenic rs7654103 SMIM20 AU 0.184904 0.372 Uncertain 4_26364300_C->G 4 26364300 26364300 C G snp 438.77 0/1 99 48 25 23 0.48 intronic rs13116873 RBPJ AD NM_203284 exon2 c.17+50C>G 0.485423 0.5367 0.472705 0.5513 0.5517 Uncertain 4_26407729_G->A 4 26407729 26407729 G A snp 911.77 1/1 66 37 0 37 1.0 intronic rs6847065 RBPJ AD NM_005349 exon4 c.85418-67G>A 0.107029 0.3204 Uncertain 4_26483659_G->A 4 26483659 26483659 G A snp 2815.77 0/1 99 248 129 119 0.48 exonic rs1805037 CCKAR AU synonymous SNV NM_000730 exon5 c.C888T p.I296I 0.0233626 0.0754 0.002153 0.0115 0.0729 Uncertain 4_26484629_G->A 4 26484629 26484629 G A snp 616.77 1/1 48 17 0 17 1.0 intronic rs2725301 CCKAR AU NM_000730 exon2 c.1518-148G>A 0.407748 0.5248 Uncertain 4_26487239_A->G 4 26487239 26487239 A G snp 1763.77 0/1 99 133 66 67 0.5 intronic rs117553866 CCKAR AU NM_000730 exon3 c.3999-19A>G 0.00159744 0.0079 0.0006 0.0065 Uncertain 4_26491117_A->T 4 26491117 26491117 A T snp 3935.77 1/1 99 140 0 140 1.0 intronic rs1800855 CCKAR AU NM_000730 exon4 c.7847+11A>T 0.390176 0.5675 0.277103 0.2781 0.5584 Uncertain 4_26491768_C->T 4 26491768 26491768 C T snp 1948.77 0/1 99 164 76 88 0.54 intronic rs1800856 CCKAR AU NM_000730 exon5 c.8518-9C>T 0.043131 0.123 0.010303 0.0208 0.1332 Uncertain 4_26491974_G->C 4 26491974 26491974 G C snp 191.77 0/1 94 9 3 6 0.67 UTR5 rs6448456 CCKAR AU 0.175919 0.1468 Uncertain 4_26578342_C->G 4 26578342 26578342 C G snp 450.77 0/1 99 64 47 17 0.27 intergenic rs76152089 CCKAR AU 0.0433307 0.0704 Uncertain 4_26585881_C->T 4 26585881 26585881 C T snp 2094.77 0/1 99 190 94 96 0.51 exonic rs4692549 TBC1D19 AU synonymous SNV NM_001292054 exon1 c.C66T p.S22S 0.313099 0.3601 0.343226 0.3917 0.3664 Uncertain 4_26615982_C->T 4 26615982 26615982 C T snp 122.77 0/1 99 10 4 6 0.6 intronic rs260954 TBC1D19 AU NM_018317 exon3 c.30214-47C>T 0.863419 0.9345 0.871282 0.9590 0.9372 Uncertain 4_26673761_T->A 4 26673761 26673761 T A snp 326.77 0/1 99 25 7 18 0.72 intronic rs9997999 TBC1D19 AU NM_001292054 exon7 c.87955-9T>A 0.861222 0.9345 0.885740 0.9541 0.9349 Uncertain 4_26673787_A->G 4 26673787 26673787 A G snp 622.77 1/1 45 24 0 24 1.0 exonic rs7691219 TBC1D19 AU synonymous SNV NM_001292054 exon7 c.A486G p.E162E 0.98103 1 0.974165 0.9936 1 Uncertain 4_26737063_-->T 4 26737063 26737063 - T indel 56.73 0/1 94 24 15 9 0.38 intronic rs33992685 TBC1D19 AU NM_001292054 exon13 c.151261-13insT 0.662939 0.6448 0.6436 0.6730 Uncertain 4_26741352_A->C 4 26741352 26741352 A C snp 41.77 0/1 70 4 2 2 0.5 intronic rs80349380 TBC1D19 AU NM_001292054 exon14 c.155670-133A>C 0.0321486 0.0655 Uncertain 4_26862754_C->T 4 26862754 26862754 C T snp 331.77 0/1 99 29 15 14 0.48 UTR5 rs114264770 STIM2 AU 0.159944 0.1964 0.108357 0.4737 0.4296 0.28 T 0.0 P -1.107 T 0.0 T 0.0 T Uncertain 4_26862782_C->G 4 26862782 26862782 C G snp 391.77 0/1 99 34 17 17 0.5 UTR5 rs75058604 STIM2 AU 0.159944 0.1964 0.120565 0.3792 0.3693 0.19 T 0.007 P -1.107 T 0.866 T 0.265 P Uncertain 4_27000995_A->G 4 27000995 27000995 A G snp 900.77 0/1 99 67 27 40 0.6 intronic rs6822297 STIM2 AU NM_001169118 exon5 c.138129+26A>G 0.299321 0.1597 0.376672 0.4147 0.1812 Uncertain 4_27004011_G->A 4 27004011 27004011 G A snp 643.77 1/1 48 24 0 24 1.0 exonic rs10028164 STIM2 AU synonymous SNV NM_001169117 exon6 c.G798A p.Q266Q 0.977636 1 0.973474 0.9884 1 Uncertain 4_27022800_A->G 4 27022800 27022800 A G snp 516.77 1/1 39 13 0 13 1.0 intronic rs10031905 STIM2 AU NM_001169117 exon12 c.159850+110A>G 0.986222 1 Uncertain 4_28372227_A->G 4 28372227 28372227 A G snp 526.77 0/1 99 21 6 15 0.71 intergenic rs16880550 LOC101929199 AU 0.23722 0.4266 Uncertain 4_28383275_G->T 4 28383275 28383275 G T snp 140.77 0/1 99 20 12 8 0.4 intergenic rs76765746 LOC101929199 AU 0.028155 0.0437 Uncertain 4_28383598_T->C 4 28383598 28383598 T C snp 495.77 0/1 99 31 14 17 0.55 intergenic rs78117126 LOC101929199 AU 0.028155 0.0437 Uncertain 4_30222329_-->ATAG 4 30222329 30222329 - ATAG indel 1094.73 1/1 51 17 0 17 1.0 intergenic rs10622798 MIR4275 AU 0.283546 0.3056 Uncertain 4_30222355_T->C 4 30222355 30222355 T C snp 586.77 0/1 99 41 18 23 0.56 intergenic rs115548068 MIR4275 AU 0.0441294 0.13 Uncertain 4_30222393_C->T 4 30222393 30222393 C T snp 970.77 0/1 99 86 47 39 0.45 intergenic rs4692442 MIR4275 AU 0.0826677 0.2252 Uncertain 4_30279586_TAGA->- 4 30279586 30279589 TAGA - indel 904.73 0/1 99 36 17 19 0.53 intergenic rs148703678 MIR4275 AU 0.0519169 0.119 Uncertain 4_30279658_-->AC 4 30279658 30279658 - AC indel 833.73 0/1 99 38 17 21 0.55 intergenic rs144776177 MIR4275 AU Uncertain 4_30279716_T->C 4 30279716 30279716 T C snp 551.77 0/1 99 38 15 23 0.61 intergenic rs73223753 MIR4275 AU 0.241414 0.1974 Uncertain 4_30279722_-->AT 4 30279722 30279722 - AT indel 531.73 0/1 99 35 22 13 0.37 intergenic rs111800627 MIR4275 AU Uncertain 4_30279742_T->C 4 30279742 30279742 T C snp 504.77 0/1 99 32 11 21 0.66 intergenic rs199704978 MIR4275 AU 0.397564 0.3413 Uncertain 4_30279745_G->A 4 30279745 30279745 G A snp 200.77 0/1 99 28 20 8 0.29 intergenic rs61794114 MIR4275 AU 0.445088 0.3988 Uncertain 4_30279789_A->C 4 30279789 30279789 A C snp 289.78 1/1 24 12 0 12 1.0 intergenic rs61794115 MIR4275 AU 0.430511 0.4742 Uncertain 4_30279815_-->TG 4 30279815 30279815 - TG indel 305.74 0/1 27 8 1 7 0.88 intergenic rs572296850 MIR4275 AU 0.360623 0.3472 Uncertain 4_30341504_T->G 4 30341504 30341504 T G snp 498.77 0/1 99 44 23 21 0.48 intergenic rs142261476 MIR4275 AU 0.0509185 0.12 Uncertain 4_30341506_T->G 4 30341506 30341506 T G snp 522.77 0/1 99 44 23 21 0.48 intergenic rs150835303 MIR4275 AU 0.0509185 0.12 Uncertain 4_30341508_A->G 4 30341508 30341508 A G snp 544.77 0/1 99 45 22 23 0.51 intergenic rs28623324 MIR4275 AU 0.048722 0.1141 Uncertain 4_30480934_A->G 4 30480934 30480934 A G snp 588.77 0/1 99 61 36 25 0.41 intergenic rs7655003 MIR4275 AU 0.317891 0.3849 Uncertain 4_30725696_G->A 4 30725696 30725696 G A snp 2675.77 0/1 99 249 139 110 0.44 exonic rs1047012 PCDH7 AU synonymous SNV NM_001173523 exon1 c.G2652A p.V884V 0.158746 0.3105 0.093265 0.1495 0.2866 1.0 P -1.015 T Likely benign 4_30725987_G->A 4 30725987 30725987 G A snp 1834.77 0/1 99 120 52 68 0.57 exonic rs977931 PCDH7 AU synonymous SNV NM_001173523 exon1 c.G2943A p.R981R 0.210663 0.3204 0.139935 0.1652 0.3022 1.000 P -0.966 T Likely benign 4_30732274_G->T 4 30732274 30732274 G T snp 441.77 0/1 99 32 15 17 0.53 intronic rs3756025 PCDH7 AU NM_002589 exon2 c.9330-100G>T 0.210463 0.3214 Uncertain 4_30922078_A->C 4 30922078 30922078 A C snp 86.77 0/1 30 4 1 3 0.75 intronic rs11735048 PCDH7 AU NM_001173523 exon2 c.198947+87A>C 0.694688 0.7698 Uncertain 4_31031755_-->TGTGTGTGTGCA 4 31031755 31031755 - TGTGTGTGTGCA indel 2298.73 0/1 99 59 37 22 0.37 intronic rs11274879 PCDH7 AU NM_001173523 exon2 c.198947+109764insTGTGTGTGTGCA Uncertain 4_31099223_TATATATATATATATATATATATATATATATATAT->- 4 31099223 31099257 TATATATATATATATATATATATATATATATATAT - indel 2411.75 1/1 24 8 0 8 1.0 intronic rs753833875 PCDH7 AU NM_001173523 exon3 c.421050-44871_421050-44837delTATATATATATATATATATATATATATATATATAT Uncertain 4_31099260_A->C 4 31099260 31099260 A C snp 243.03 0/1 12 10 1 9 0.9 intronic rs58379331 PCDH7 AU NM_001173523 exon3 c.421050-44834A>C Uncertain 4_31107765_G->C 4 31107765 31107765 G C snp 495.77 0/1 99 56 31 25 0.45 intronic rs4580617 PCDH7 AU NM_001173523 exon3 c.421050-36329G>C 0.685703 0.7827 Uncertain 4_31116375_A->G 4 31116375 31116375 A G snp 83.77 0/1 72 8 3 5 0.63 intronic rs10006845 PCDH7 AU NM_001173523 exon3 c.421050-27719A>G 0.694089 0.7847 Uncertain 4_31144054_G->C 4 31144054 31144054 G C snp 729.77 0/1 99 69 41 28 0.41 intronic rs77404368 PCDH7 AU NM_001173523 exon3 c.421050-40G>C 0.0535144 0.0585 0.036396 0.0454 0.0688 Uncertain 4_36081878_C->T 4 36081878 36081878 C T snp 6284.77 1/1 99 220 1 219 1.0 exonic rs4833069 ARAP2 AU nonsynonymous SNV NM_015230 exon31 c.G4568A p.R1523Q 0.995208 1 0.992542 0.9922 1 0.75 T 0.000 P -0.926 T 0.0 T 0.0 T Pathogenic 4_36109409_C->G 4 36109409 36109409 C G snp 143.03 1/1 12 5 0 5 1.0 intronic rs7688562 ARAP2 AU NM_015230 exon7 c.39787+94C>G 0.95008 0.9246 Uncertain 4_36115666_A->C 4 36115666 36115666 A C snp 93.28 1/1 9 3 0 3 1.0 intronic rs3736442 ARAP2 AU NM_015230 exon8 c.46263-125A>C 0.315096 0.4544 Uncertain 4_36116111_C->T 4 36116111 36116111 C T snp 93.28 1/1 9 3 0 3 1.0 intronic rs1510643 ARAP2 AU NM_015230 exon8 c.46381+202C>T 0.986422 1 Uncertain 4_36121140_-->T 4 36121140 36121140 - T indel 77.73 0/1 99 18 11 7 0.39 intronic rs143366422 ARAP2 AU NM_015230 exon10 c.51743-131insT 0.343051 0.4474 Uncertain 4_36122737_A->T 4 36122737 36122737 A T snp 472.77 0/1 76 17 3 14 0.82 intronic rs4832795 ARAP2 AU NM_015230 exon11 c.53272-63A>T 0.322883 0.4534 Uncertain 4_36126293_A->G 4 36126293 36126293 A G snp 41.77 0/1 70 4 2 2 0.5 intronic rs2271332 ARAP2 AU NM_015230 exon12 c.56955-190A>G 0.316494 0.4544 Uncertain 4_36126393_G->A 4 36126393 36126393 G A snp 1429.77 0/1 99 103 49 54 0.52 intronic rs2271331 ARAP2 AU NM_015230 exon12 c.56955-90G>A 0.314696 0.4544 Uncertain 4_36126696_G->A 4 36126696 36126696 G A snp 80.77 0/1 99 6 3 3 0.5 intronic rs3817165 ARAP2 AU NM_015230 exon12 c.57061+107G>A 0.322284 0.4544 Uncertain 4_36130099_-->ACAC 4 36130099 36130099 - ACAC indel 1072.73 1/1 60 21 0 21 1.0 intronic rs113034093 ARAP2 AU NM_015230 exon13 c.60626-55insACAC Uncertain 4_36130127_T->C 4 36130127 36130127 T C snp 1153.77 0/1 99 74 29 45 0.61 intronic rs5009416 ARAP2 AU NM_015230 exon13 c.60626-27T>C 0.368411 0.4841 0.164078 0.2439 0.2965 Uncertain 4_36130376_A->- 4 36130376 36130376 A - indel 901.73 1/1 96 44 0 44 1.0 intronic rs397992921 ARAP2 AU NM_015230 exon13 c.60839+9delA 0.930312 0.9236 0.8978 0.9016 Uncertain 4_36130393_C->T 4 36130393 36130393 C T snp 282.77 0/1 99 29 18 11 0.38 intronic rs1397419 ARAP2 AU NM_015230 exon13 c.60839+26C>T 0.321885 0.4524 0.266801 0.3823 0.4756 Uncertain 4_36148837_T->C 4 36148837 36148837 T C snp 819.77 0/1 99 47 14 33 0.7 intronic rs73225587 ARAP2 AU NM_015230 exon15 c.79389-80T>C 0.32488 0.4544 Uncertain 4_36149025_G->A 4 36149025 36149025 G A snp 2058.77 1/1 99 76 0 76 1.0 intronic rs1567483 ARAP2 AU NM_015230 exon15 c.79453+44G>A 0.945288 0.9236 0.950735 0.9289 0.9102 Uncertain 4_36149113_C->T 4 36149113 36149113 C T snp 1908.77 1/1 99 58 0 58 1.0 intronic rs1567484 ARAP2 AU NM_015230 exon16 c.79641-56C>T 0.946286 0.9246 Uncertain 4_36160340_G->T 4 36160340 36160340 G T snp 1324.77 1/1 93 49 0 49 1.0 intronic rs1546495 ARAP2 AU NM_015230 exon19 c.90823-11G>T 0.86901 0.9206 0.825209 0.8303 0.9079 Uncertain 4_36162273_-->A 4 36162273 36162273 - A indel 256.73 1/1 35 19 0 19 1.0 intronic rs11431961 ARAP2 AU NM_015230 exon21 c.92735+10insA 0.694760 0.6937 0.7676 Uncertain 4_36162365_T->C 4 36162365 36162365 T C snp 93.28 1/1 9 3 0 3 1.0 intronic rs61799597 ARAP2 AU NM_015230 exon21 c.92735+102T>C 0.0788738 0.1488 Uncertain 4_36162923_G->A 4 36162923 36162923 G A snp 391.77 1/1 30 11 0 11 1.0 intronic rs2271330 ARAP2 AU NM_015230 exon22 c.93558-163G>A 0.871605 0.9216 Uncertain 4_36168707_AAAA->- 4 36168707 36168710 AAAA - indel 296.87 1/1 15 8 0 8 1.0 intronic rs3055951 ARAP2 AU NM_015230 exon24 c.99141+38_99141+41delAAAA 0.360224 0.6111 0.290771 0.4054 0.6335 Uncertain 4_36179343_T->C 4 36179343 36179343 T C snp 258.8 1/1 21 7 0 7 1.0 intronic rs4832797 ARAP2 AU NM_015230 exon25 c.109920-105T>C 0.928714 1 Uncertain 4_36211914_C->A 4 36211914 36211914 C A snp 335.78 1/1 27 13 0 13 1.0 intronic rs4394022 ARAP2 AU NM_015230 exon28 c.142483-97C>A 0.942093 1 Uncertain 4_36258197_T->C 4 36258197 36258197 T C snp 2104.77 1/1 99 85 0 85 1.0 ncRNA_exonic rs7686575 LOC439933 AU 0.963658 0.999 0.9599 0.9925 Uncertain 4_36292018_T->A 4 36292018 36292018 T A snp 2677.77 1/1 99 103 0 103 1.0 exonic rs1995319 DTHD1 AU nonsynonymous SNV NM_001136536 exon2 c.T41A p.V14D 0.963059 0.999 0.937144 0.9442 0.9968 0.83 T 0.0 P -0.998 T 0.0 T 0.0 T Pathogenic 4_36310049_C->T 4 36310049 36310049 C T snp 1326.77 0/1 99 92 41 51 0.55 exonic rs12507599 DTHD1 AU nonsynonymous SNV NM_001136536 exon6 c.C1159T p.R387C 0.313698 0.369 0.254709 0.2962 0.3718 0.09 T 0.0 P -1.070 T 0.004 T 0.001 T Pathogenic 4_36317750_G->C 4 36317750 36317750 G C snp 783.77 1/1 60 26 0 26 1.0 intronic rs59313146 DTHD1 AU NM_001170700 exon7 c.32162-113G>C 0.0728834 0.128 Uncertain 4_36317768_A->G 4 36317768 36317768 A G snp 978.77 1/1 72 37 0 37 1.0 intronic rs57623676 DTHD1 AU NM_001170700 exon7 c.32162-95A>G 0.0728834 0.128 Uncertain 4_36317832_A->C 4 36317832 36317832 A C snp 2650.77 1/1 99 100 0 100 1.0 intronic rs58707171 DTHD1 AU NM_001170700 exon7 c.32162-31A>C 0.110423 0.128 0.071178 0.0838 0.1526 Uncertain 4_36317965_T->C 4 36317965 36317965 T C snp 2677.77 1/1 99 103 0 103 1.0 exonic rs60640167 DTHD1 AU nonsynonymous SNV NM_001136536 exon7 c.T1327C p.Y443H 0.0728834 0.128 0.033290 0.0676 0.1410 0.53 T 0.000 P -0.900 T 0.285 T 0.122 T Pathogenic 4_37247021_C->T 4 37247021 37247021 C T snp 224.84 1/1 18 6 0 6 1.0 intronic rs892825 NWD2 AU NM_001144990 exon1 c.151+181C>T 0.860024 0.9921 Uncertain 4_37327583_A->C 4 37327583 37327583 A C snp 1340.77 0/1 99 144 82 62 0.43 exonic rs73130327 NWD2 AU synonymous SNV NM_001144990 exon2 c.A177C p.L59L 0.105831 0.1825 0.114323 0.1185 0.1656 Uncertain 4_37435524_C->T 4 37435524 37435524 C T snp 1384.77 0/1 99 127 64 63 0.5 exonic rs17604216 NWD2 AU synonymous SNV NM_001144990 exon5 c.C588T p.N196N 0.101038 0.1032 0.079063 0.0462 0.0981 Uncertain 4_37592674_T->C 4 37592674 37592674 T C snp 364.77 0/1 99 42 25 17 0.4 UTR3 rs937941 C4orf19 AU 0.494808 0.4315 0.631326 0.6485 0.4225 Uncertain 4_37592679_T->G 4 37592679 37592679 T G snp 354.77 0/1 99 40 23 17 0.42 UTR3 rs937942 C4orf19 AU 0.115016 0.3095 Uncertain 4_37636750_T->G 4 37636750 37636750 T G snp 1729.77 0/1 99 113 48 65 0.58 splicing rs2276943 RELL1 AU NM_001085399 exon3 c.3736+5T>G 0.575879 0.4683 0.596234 0.6024 0.4798 Pathogenic 4_37651063_C->T 4 37651063 37651063 C T snp 1097.77 0/1 99 96 51 45 0.47 exonic rs117473040 RELL1 AU nonsynonymous SNV NM_001085399 exon2 c.G148A p.D50N 0.00599042 0.0248 0.000575 0.0043 0.0380 0.85 T 1 N -1.020 T 0.0 T 0.0 T Pathogenic 4_37666995_T->C 4 37666995 37666995 T C snp 4721.77 1/1 99 165 0 165 1.0 intronic rs1221653 RELL1 AU NM_001085399 exon6 c.18113+15873T>C 0.9998 1 1 1 Uncertain 4_37828175_T->C 4 37828175 37828175 T C snp 185.9 1/1 15 7 0 7 1.0 upstream rs2059484 PGM2 AU 0.686502 0.7262 Uncertain 4_37828186_C->T 4 37828186 37828186 C T snp 91.77 0/1 99 12 7 5 0.42 upstream rs2059483 PGM2 AU 0.347244 0.2292 Uncertain 4_37831850_C->T 4 37831850 37831850 C T snp 224.84 1/1 18 6 0 6 1.0 intronic rs2911907 PGM2 AU NM_018290 exon2 c.3399+97C>T 0.769169 0.8938 Uncertain 4_37850313_G->- 4 37850313 37850313 G - indel 654.73 0/1 99 59 38 21 0.36 intronic rs35704131 PGM2 AU NM_018290 exon11 c.21918+41delG 0.344449 0.2183 0.470372 0.4865 0.2386 Uncertain 4_37857106_G->A 4 37857106 37857106 G A snp 112.77 0/1 99 10 5 5 0.5 intronic rs6531590 PGM2 AU NM_018290 exon13 c.28874-122G>A 0.751198 0.753 Uncertain 4_37857166_A->G 4 37857166 37857166 A G snp 523.77 0/1 99 55 30 25 0.45 intronic rs6842360 PGM2 AU NM_018290 exon13 c.28874-62A>G 0.751597 0.754 Uncertain 4_37863046_T->- 4 37863046 37863046 T - indel 1681.73 0/1 99 77 31 46 0.6 intronic rs3832307 PGM2 AU NM_018290 exon14 c.34776-84delT 0.411142 0.2153 Uncertain 4_37873908_T->G 4 37873908 37873908 T G snp 111.77 0/1 99 7 3 4 0.57 intergenic rs6842439 PGM2 AU 0.357428 0.2163 Uncertain 4_37903756_T->C 4 37903756 37903756 T C snp 3498.77 1/1 99 115 1 114 0.99 exonic rs2279027 TBC1D1 AU nonsynonymous SNV NM_015173 exon2 c.T40C p.S14P 0.704073 0.6577 0.676303 0.6248 0.6424 1 T 0.0 P -0.984 T 0.0 T 0.0 T Pathogenic 4_37922416_A->T 4 37922416 37922416 A T snp 743.77 1/1 54 25 0 25 1.0 intronic rs60244784 TBC1D1 AU NM_015173 exon2 c.417+18283A>T 0.419928 0.6558 Uncertain 4_37922423_A->G 4 37922423 37922423 A G snp 308.77 0/1 99 23 11 12 0.52 intronic rs36075899 TBC1D1 AU NM_015173 exon2 c.417+18290A>G 0.207268 0.2946 Uncertain 4_37962133_G->A 4 37962133 37962133 G A snp 2924.77 0/1 99 249 130 119 0.48 exonic rs2290740 PTTG2 AU synonymous SNV NM_006607 exon1 c.G78A p.L26L 0.234824 0.3125 0.194662 0.1716 0.3365 Uncertain 4_37962186_G->C 4 37962186 37962186 G C snp 7042.77 1/1 99 238 0 238 1.0 exonic rs6811863 PTTG2 AU nonsynonymous SNV NM_006607 exon1 c.G131C p.R44P 0.729832 0.9583 0.611752 0.6413 0.9572 1 T 0.0 P -0.934 T 0.0 T 0.0 T Pathogenic 4_38016395_T->G 4 38016395 38016395 T G snp 5272.77 1/1 99 181 0 181 1.0 exonic rs10501 TBC1D1 AU nonsynonymous SNV NM_015173 exon3 c.T683G p.V228G 0.578474 0.7093 0.475366 0.4825 0.6994 0.4 T 0.000 P -1.055 T 0.0 T 0.0 T Pathogenic 4_38022087_A->G 4 38022087 38022087 A G snp 1072.77 1/1 78 40 0 40 1.0 intronic rs10015663 TBC1D1 AU NM_015173 exon5 c.118495-124A>G 0.610623 0.63 Uncertain 4_38023302_C->G 4 38023302 38023302 C G snp 1359.77 1/1 96 49 0 49 1.0 exonic rs34119528 TBC1D1 AU synonymous SNV NM_015173 exon6 c.C1173G p.P391P 0.185503 0.3978 0.110949 0.2160 0.4300 0 D 1.0 P -0.951 T Likely benign 4_38029729_A->C 4 38029729 38029729 A C snp 119.77 0/1 99 7 3 4 0.57 intronic rs9995745 TBC1D1 AU NM_015173 exon7 c.125784+229A>C 0.426917 0.4494 Uncertain 4_38029731_A->C 4 38029731 38029731 A C snp 60.77 0/1 89 7 4 3 0.43 intronic rs13113566 TBC1D1 AU NM_015173 exon7 c.125784+231A>C 0.141573 0.1696 Uncertain 4_38047545_A->G 4 38047545 38047545 A G snp 3716.77 1/1 99 139 0 139 1.0 intronic rs6845120 TBC1D1 AU NM_015173 exon10 c.143808+21A>G 0.38738 0.5764 0.315470 0.3300 0.6284 Uncertain 4_38053789_TGTGTGTGTG->- 4 38053789 38053798 TGTGTGTGTG - indel 2522.73 1/1 72 43 0 43 1.0 intronic rs58659939 TBC1D1 AU NM_001253912 exon12 c.149965+108_149965+117delTGTGTGTGTG Uncertain 4_38054582_A->G 4 38054582 38054582 A G snp 129.03 1/1 12 4 0 4 1.0 intronic rs6823014 TBC1D1 AU NM_001253912 exon13 c.151010-144A>G 0.611222 0.625 Uncertain 4_38062233_T->A 4 38062233 38062233 T A snp 1402.77 0/1 99 118 59 59 0.5 intronic rs1364953 TBC1D1 AU NM_015173 exon12 c.152243+6274T>A 0.248203 0.373 0.2706 0.2955 Uncertain 4_38091800_A->G 4 38091800 38091800 A G snp 692.77 1/1 51 22 0 22 1.0 intronic rs2303422 TBC1D1 AU NM_015173 exon13 c.188022+62A>G 0.190495 0.4117 Uncertain 4_38138661_C->T 4 38138661 38138661 C T snp 123.77 0/1 99 15 6 9 0.6 intronic rs17579988 TBC1D1 AU NM_001253915 exon4 c.12171-94C>T 0.0377396 0.0883 Uncertain 4_38628540_A->G 4 38628540 38628540 A G snp 59.74 1/1 6 3 0 3 1.0 ncRNA_intronic rs168086 KLF3-AS1 AU 0.789137 0.5675 0.7494 0.5 0.41 T -0.873 T Uncertain 4_38628725_C->T 4 38628725 38628725 C T snp 59.74 1/1 6 3 0 3 1.0 ncRNA_intronic rs62294474 KLF3-AS1 AU 0.426318 0.4038 0.4893 0.4417 0 D -0.927 T Uncertain 4_38774785_A->G 4 38774785 38774785 A G snp 5034.77 1/1 99 189 1 188 0.99 exonic rs10776482 TLR10 AU synonymous SNV NM_030956 exon4 c.T2427C p.D809D 0.298722 0.4325 0.209672 0.2549 0.4420 Uncertain 4_38774889_T->C 4 38774889 38774889 T C snp 7308.77 1/1 99 250 0 250 1.0 exonic rs4129009 TLR10 AU nonsynonymous SNV NM_030956 exon4 c.A2323G p.I775V 0.146565 0.2688 0.124635 0.1753 0.2814 0.22 T 0.005 P -0.933 T 0.0 T 0.0 T ID=CM057767;DIS=Prostate cancer, increased risk, association with;TAG=DP;PUB=15812078 DP Pathogenic 4_38775040_A->G 4 38775040 38775040 A G snp 5099.77 1/1 99 162 0 162 1.0 exonic rs10776483 TLR10 AU synonymous SNV NM_030956 exon4 c.T2172C p.H724H 0.298722 0.4325 0.209672 0.2638 0.4424 Uncertain 4_38776107_T->G 4 38776107 38776107 T G snp 3597.77 1/1 99 123 0 123 1.0 exonic rs11096955 TLR10 AU nonsynonymous SNV NM_030956 exon4 c.A1105C p.I369L 0.499601 0.5546 0.398508 0.4295 0.5455 0.33 T 0.0 P -0.947 T 0.0 T 0.002 T ID=CM057766;DIS=Prostate cancer, increased risk, association with;TAG=DP;PUB=15812078 DP Pathogenic 4_38776180_C->A 4 38776180 38776180 C A snp 3110.77 1/1 99 106 0 106 1.0 exonic rs11096956 TLR10 AU synonymous SNV NM_030956 exon4 c.G1032T p.P344P 0.298522 0.4325 0.209705 0.2637 0.4412 Uncertain 4_38776491_T->G 4 38776491 38776491 T G snp 3693.77 1/1 99 124 0 124 1.0 exonic rs11096957 TLR10 AU nonsynonymous SNV NM_030956 exon4 c.A721C p.N241H 0.5 0.5546 0.398431 0.4301 0.5457 0.02 T 0.0 P -0.915 T 0.864 T 0.669 P ID=CM057765;DIS=Prostate cancer, increased risk, association with;TAG=DP;PUB=15812078 DP Pathogenic 4_38798648_C->A 4 38798648 38798648 C A snp 4634.77 1/1 99 149 1 148 0.99 exonic rs5743618 TLR1 AU nonsynonymous SNV NM_003263 exon4 c.G1805T p.S602I 0.800519 0.994 0.478622 0.5389 0.9899 1 T 0.0 P -0.981 T 0.0 T 0.0 T CLINSIG=other;CLNDBN=Leprosy\x2c_protection_against;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000008865.3;CLNDSDB=MedGen;CLNDSDBID=C2750734 ID=CM073378;DIS=Leprosy, protection against, association with;TAG=DFP;PUB=17548585 DFP Pathogenic 4_38798935_C->T 4 38798935 38798935 C T snp 4846.77 1/1 99 214 21 193 0.9 exonic rs5743614 TLR1 AU synonymous SNV NM_003263 exon4 c.G1518A p.S506S 0.559505 0.5992 0.3870 0.6004 Uncertain 4_38798999_C->G 4 38798999 38798999 C G snp 775.77 0/1 99 99 52 47 0.47 exonic TLR1 AU nonsynonymous SNV NM_003263 exon4 c.G1454C p.G485A 0 D 0.843 D -0.835 T 0.727 T 0.517 P Pathogenic 4_38799710_T->C 4 38799710 38799710 T C snp 4203.77 1/1 99 128 0 128 1.0 exonic rs4833095 TLR1 AU nonsynonymous SNV NM_003263 exon4 c.A743G p.N248S 0.574681 0.5992 0.427945 0.3921 0.6014 0.28 T 0.0 P -1.027 T 0.001 T 0.003 T CLINSIG=other;CLNDBN=Leprosy_5;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000008866.1;CLNDSDB=MedGen:OMIM;CLNDSDBID=C2750733:613223 ID=CM094340;DIS=Leprosy, association with;TAG=DFP;PUB=19456232 DFP Pathogenic 4_38829832_T->C 4 38829832 38829832 T C snp 3109.77 0/1 99 250 122 128 0.51 exonic rs3775073 TLR6 AU synonymous SNV NM_006068 exon2 c.A1263G p.K421K 0.457468 0.3958 0.449946 0.3793 0.3766 Uncertain 4_38830012_G->C 4 38830012 38830012 G C snp 885.77 0/1 99 79 43 36 0.46 exonic rs3821985 TLR6 AU synonymous SNV NM_006068 exon2 c.C1083G p.T361T 0.444888 0.3958 0.440172 0.3766 0.3774 Uncertain 4_38830350_A->G 4 38830350 38830350 A G snp 1944.77 1/1 99 72 0 72 1.0 exonic rs5743810 TLR6 AU nonsynonymous SNV NM_006068 exon2 c.T745C p.S249P 0.884784 1 0.691527 0.7392 1 0.38 T 0.0 P -1.001 T 0.0 T 0.0 T ID=CM045810;DIS=Asthma, decreased risk, association with;TAG=DFP;PUB=15266299 DFP Pathogenic 4_38910362_G->T 4 38910362 38910362 G T snp 1225.77 0/1 99 113 63 50 0.44 intronic rs7676657 FAM114A1 AU NM_138389 exon7 c.30648+15G>T 0.107428 0.0516 0.091112 0.0675 0.0496 Uncertain 4_38916465_A->C 4 38916465 38916465 A C snp 962.77 1/1 69 35 0 35 1.0 intronic rs4563504 FAM114A1 AU NM_138389 exon8 c.36842-76A>C 0.884385 1 Uncertain 4_38916631_T->C 4 38916631 38916631 T C snp 1403.77 0/1 99 157 90 67 0.43 exonic rs4261994 FAM114A1 AU synonymous SNV NM_138389 exon8 c.T882C p.D294D 0.0896565 0.1319 0.056743 0.0360 0.1466 Uncertain 4_38930985_-->AA 4 38930985 38930985 - AA indel 1718.73 1/1 99 100 0 100 1.0 intronic rs35369040 FAM114A1 AU NM_138389 exon10 c.51255+31insAA 0.366813 0.5774 0.133349 0.2486 0.4446 Uncertain 4_38930995_C->A 4 38930995 38930995 C A snp 2208.77 1/1 99 62 0 62 1.0 intronic rs58035134 FAM114A1 AU NM_138389 exon10 c.51255+41C>A 0.379393 0.5823 0.2817 0.5339 Uncertain 4_38931097_A->C 4 38931097 38931097 A C snp 414.77 1/1 33 11 0 11 1.0 intronic rs13150445 FAM114A1 AU NM_138389 exon10 c.51255+143A>C 0.364816 0.5774 Uncertain 4_38932922_C->A 4 38932922 38932922 C A snp 189.77 0/1 99 13 7 6 0.46 intronic rs2291493 FAM114A1 AU NM_138389 exon11 c.53372-149C>A 0.748602 0.7718 Uncertain 4_38934027_C->T 4 38934027 38934027 C T snp 575.77 0/1 99 45 25 20 0.44 intronic FAM114A1 AU NM_138389 exon12 c.54296+32C>T Uncertain 4_38937329_C->T 4 38937329 38937329 C T snp 84.77 0/1 99 28 17 11 0.39 intronic rs754808360 FAM114A1 AU NM_138389 exon13 c.57639-9C>T 0.0007 0.0004 Uncertain 4_38937372_T->C 4 38937372 38937372 T C snp 745.77 0/1 99 74 38 36 0.49 exonic rs2271031 FAM114A1 AU synonymous SNV NM_138389 exon13 c.T1497C p.S499S 0.724441 0.6905 0.678637 0.6564 0.6698 Uncertain 4_38942697_-->T 4 38942697 38942697 - T indel 216.73 0/1 99 66 25 41 0.62 intronic rs11398065 FAM114A1 AU NM_138389 exon14 c.62943+55insT 0.461262 0.4454 Uncertain 4_38944976_-->T 4 38944976 38944976 - T indel 3172.74 1/1 99 77 0 77 1.0 intronic rs34903665 FAM114A1 AU NM_138389 exon15 c.65377-100insT 0.710663 0.6587 Uncertain 4_38972691_T->C 4 38972691 38972691 T C snp 2841.77 0/1 99 250 122 128 0.51 exonic rs140693293 TMEM156 AU synonymous SNV NM_001303228 exon6 c.A887G p.X296X 0.0107827 0.0198 0.002768 0.0053 0.0185 Uncertain 4_38972793_A->G 4 38972793 38972793 A G snp 1662.77 0/1 99 121 52 69 0.57 intronic rs3733268 TMEM156 AU NM_024943 exon2 c.68+36A>G 0.0173722 0.0516 0.014532 0.0203 0.0591 Uncertain 4_38990334_C->T 4 38990334 38990334 C T snp 1387.77 1/1 99 40 0 40 1.0 intronic rs3821986 TMEM156 AU NM_001303228 exon4 c.17781-136C>T 0.458267 0.626 Uncertain 4_38995310_A->G 4 38995310 38995310 A G snp 1736.77 1/1 99 52 0 52 1.0 intronic rs11721954 TMEM156 AU NM_001303228 exon5 c.22668-47A>G 0.408946 0.623 0.340178 0.4036 0.6498 Uncertain 4_38995374_T->C 4 38995374 38995374 T C snp 5565.77 1/1 99 192 0 192 1.0 exonic rs10212770 TMEM156 AU synonymous SNV NM_001303228 exon3 c.A603G p.L201L 0.926518 0.9484 0.887206 0.8753 0.9563 Uncertain 4_39000305_A->G 4 39000305 39000305 A G snp 1332.77 0/1 99 121 63 58 0.48 exonic rs11542133 TMEM156 AU nonsynonymous SNV NM_001303228 exon2 c.T313C p.S105P 0.276358 0.4196 0.229663 0.2914 0.4839 0.07 T 0.845 P -0.964 T 0.04 T 0.043 T Pathogenic 4_39000569_C->T 4 39000569 39000569 C T snp 40.77 0/1 69 7 5 2 0.29 intronic rs73236699 TMEM156 AU NM_001303228 exon6 c.27840+40C>T 0.290935 0.4087 0.252245 0.3115 0.4524 Uncertain 4_39046587_A->- 4 39046587 39046587 A - indel 189.87 1/1 15 5 0 5 1.0 UTR5 rs111344840 KLHL5 AU 1 1 0 . Uncertain 4_39046651_C->G 4 39046651 39046651 C G snp 144.03 1/1 12 6 0 6 1.0 UTR5 rs76308346 KLHL5 AU 0.40655 0.495 0.5 . Uncertain 4_39064126_G->C 4 39064126 39064126 G C snp 1285.77 1/1 93 43 0 43 1.0 UTR5 rs2711942 KLHL5 AU 0.736222 0.8274 0.715045 0.7520 0.8354 Uncertain 4_39064162_A->C 4 39064162 39064162 A C snp 2336.77 1/1 99 89 0 89 1.0 exonic rs2711941 KLHL5 AU nonsynonymous SNV NM_015990 exon1 c.A28C p.I10L 0.736422 0.8274 0.714747 0.7502 0.8352 1 T 0.000 P -0.940 T 0.0 T 0.0 T Pathogenic 4_39065091_G->A 4 39065091 39065091 G A snp 649.77 1/1 48 17 0 17 1.0 intronic rs2711940 KLHL5 AU NM_015990 exon1 c.521+436G>A 0.736222 0.8274 Uncertain 4_39094738_G->A 4 39094738 39094738 G A snp 4083.77 1/1 99 147 0 147 1.0 intronic rs2566149 KLHL5 AU NM_015990 exon6 c.34177-3573G>A 0.765176 0.8343 0.7112 0.7955 0.0 P Uncertain 4_39104838_TG->- 4 39104838 39104839 TG - indel 197.87 1/1 15 5 0 5 1.0 intronic rs35745478 KLHL5 AU NM_015990 exon7 c.40772-68_40772-67delTG 0.461661 0.4851 Uncertain 4_39109399_A->G 4 39109399 39109399 A G snp 517.77 1/1 39 17 0 17 1.0 ncRNA_intronic rs12508577 MIR1273H AU 0.501198 0.495 0.534764 0.5955 0.5279 Uncertain 4_39114929_G->A 4 39114929 39114929 G A snp 295.78 1/1 24 9 0 9 1.0 ncRNA_intronic rs3796510 MIR1273H AU 0.492612 0.495 Uncertain 4_39116775_A->T 4 39116775 39116775 A T snp 1764.77 1/1 99 58 0 58 1.0 splicing rs10026775 KLHL5 AU NM_015990 exon10 c.52644-3A>T 0.492612 0.495 0.520068 0.5596 0.5055 Pathogenic 4_39116911_T->C 4 39116911 39116911 T C snp 4475.77 1/1 99 170 3 167 0.98 exonic rs3733276 KLHL5 AU synonymous SNV NM_199039 exon9 c.T1989C p.T663T 0.492612 0.495 0.520068 0.5592 0.5042 1.0 P -0.929 T Likely benign 4_39117103_G->A 4 39117103 39117103 G A snp 443.77 1/1 33 15 0 15 1.0 ncRNA_intronic rs3733277 MIR1273H AU 0.492612 0.495 Uncertain 4_39122577_A->G 4 39122577 39122577 A G snp 1712.77 1/1 99 62 0 62 1.0 ncRNA_intronic rs3733274 MIR1273H AU 0.490016 0.495 0.526719 Uncertain 4_39122697_C->T 4 39122697 39122697 C T snp 1205.77 1/1 87 41 0 41 1.0 ncRNA_intronic rs3733275 MIR1273H AU 0.492612 0.495 0.519683 0.5587 0.5041 Uncertain 4_39128073_A->G 4 39128073 39128073 A G snp 176.9 1/1 15 5 0 5 1.0 ncRNA_intronic rs2566162 MIR1273H AU 0.775958 0.8323 Uncertain 4_39128101_A->T 4 39128101 39128101 A T snp 832.77 1/1 63 21 0 21 1.0 ncRNA_intronic rs7694760 MIR1273H AU 0.490615 0.495 Uncertain 4_39187522_G->T 4 39187522 39187522 G T snp 1345.77 1/1 99 41 0 41 1.0 ncRNA_intronic rs6839511 MIR1273H AU Uncertain 4_39205365_C->T 4 39205365 39205365 C T snp 6548.77 1/1 99 225 1 224 1.0 ncRNA_intronic rs1451817 MIR1273H AU 0.964457 1 0.970212 0.9910 1 Uncertain 4_39217352_A->G 4 39217352 39217352 A G snp 871.77 1/1 66 23 0 23 1.0 ncRNA_intronic rs3733287 MIR1273H AU 0.453874 0.6181 Uncertain 4_39242111_C->A 4 39242111 39242111 C A snp 172.9 1/1 15 5 0 5 1.0 ncRNA_intronic rs9998591 MIR1273H AU 0.656949 0.8284 Uncertain 4_39279672_A->- 4 39279672 39279672 A - indel 38.73 0/1 76 28 21 7 0.25 ncRNA_intronic MIR1273H AU Uncertain 4_39279907_A->G 4 39279907 39279907 A G snp 5865.77 1/1 99 202 1 201 1.0 ncRNA_intronic rs2276888 MIR1273H AU 0.469449 0.621 Uncertain 4_39302029_T->C 4 39302029 39302029 T C snp 1091.77 1/1 78 40 0 40 1.0 exonic rs2066786 RFC1 AU synonymous SNV NM_001204747 exon20 c.A2544G p.P848P 0.465256 0.63 0.424727 0.5511 0.6623 Uncertain 4_39308187_G->A 4 39308187 39308187 G A snp 620.77 1/1 45 21 0 21 1.0 ncRNA_intronic rs2066789 MIR1273H AU 0.681909 0.9276 0.566738 0.6850 0.9308 Uncertain 4_39343940_C->A 4 39343940 39343940 C A snp 5554.77 1/1 99 200 0 200 1.0 ncRNA_intronic rs2306596 MIR1273H AU 0.440096 0.621 0.395510 0.5143 0.6498 Uncertain 4_39352910_T->C 4 39352910 39352910 T C snp 96.28 1/1 9 3 0 3 1.0 ncRNA_intronic rs11729890 MIR1273H AU Uncertain 4_39353122_C->T 4 39353122 39353122 C T snp 1249.77 1/1 87 50 0 50 1.0 ncRNA_intronic rs4975007 MIR1273H AU 0.973243 1 0.975521 0.9905 1 Uncertain 4_39448529_G->A 4 39448529 39448529 G A snp 3006.77 0/1 99 249 123 126 0.51 exonic rs17618244 KLB AU nonsynonymous SNV NM_175737 exon4 c.G2183A p.R728Q 0.153754 0.1885 0.149731 0.1796 0.1771 0.37 T 0.0 P -0.957 T 0.66 T 0.127 P ID=CM114258;DIS=Accelerated colonic transit in irritable bowel syndrome, association;TAG=DFP;PUB=21396369 DFP Pathogenic 4_39448542_C->G 4 39448542 39448542 C G snp 7175.77 1/1 99 244 0 244 1.0 exonic rs7685429 KLB AU synonymous SNV NM_175737 exon4 c.C2196G p.P732P 0.765176 0.7212 0.750616 0.7650 0.7289 Uncertain 4_39450229_C->A 4 39450229 39450229 C A snp 1976.77 0/1 99 179 97 82 0.46 exonic rs4975017 KLB AU nonsynonymous SNV NM_175737 exon5 c.C3058A p.Q1020K 0.328275 0.3819 0.267261 0.3430 0.3925 1 T 0.0 P -0.916 T 0.049 T 0.01 T Pathogenic 4_39456392_G->A 4 39456392 39456392 G A snp 558.77 1/1 42 15 0 15 1.0 ncRNA_intronic rs1463478 MIR1273H AU 0.490216 0.5694 Uncertain 4_39457870_-->G 4 39457870 39457870 - G indel 2068.73 1/1 99 47 0 47 1.0 ncRNA_intronic rs3216720 MIR1273H AU 0.692093 0.7212 0.7097 0.7131 Uncertain 4_39458051_A->G 4 39458051 39458051 A G snp 2401.77 1/1 99 81 0 81 1.0 exonic rs2125313 RPL9 AU synonymous SNV NM_001024921 exon4 c.T366C p.Y122Y 0.692891 0.7212 0.649623 0.7029 0.7257 0.28 T 1.0 P -1.014 T Likely benign 4_39459154_G->A 4 39459154 39459154 G A snp 194.77 0/1 99 10 4 6 0.6 ncRNA_intronic rs2608830 MIR1273H AU 0.154553 0.1875 0.158447 Uncertain 4_39459724_T->C 4 39459724 39459724 T C snp 2412.77 1/1 99 90 0 90 1.0 ncRNA_intronic rs2687958 MIR1273H AU 0.69349 0.7212 0.7245 0.7462 Uncertain 4_39460490_C->G 4 39460490 39460490 C G snp 2348.77 0/1 99 199 99 100 0.5 ncRNA_intronic rs2276890 MIR1273H AU 0.322085 0.3819 0.3629 0.3794 Uncertain 4_39460797_G->A 4 39460797 39460797 G A snp 1560.77 0/1 99 126 60 66 0.52 ncRNA_intronic rs2687959 MIR1273H AU 0.197684 0.2669 0.184259 0.2206 0.2643 Uncertain 4_39472842_T->A 4 39472842 39472842 T A snp 1006.77 0/1 99 116 70 46 0.4 ncRNA_intronic rs2125314 MIR1273H AU 0.336861 0.3829 0.292019 0.3654 0.3935 CLINSIG=non-pathogenic;CLNDBN=not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000126623.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Uncertain 4_39472947_T->- 4 39472947 39472947 T - indel 149.73 0/1 99 54 16 38 0.7 ncRNA_intronic rs67611743 MIR1273H AU 0.3583 0.4026 Uncertain 4_39472964_A->T 4 39472964 39472964 A T snp 149.77 0/1 99 31 23 8 0.26 ncRNA_intronic rs201871150 MIR1273H AU 0.0005 0.0002 Uncertain 4_39473072_C->T 4 39473072 39473072 C T snp 56.74 1/1 6 2 0 2 1.0 ncRNA_intronic rs2608831 MIR1273H AU 0.291733 0.2599 Uncertain 4_39478832_G->A 4 39478832 39478832 G A snp 489.77 0/1 99 56 33 23 0.41 ncRNA_intronic rs1048140 MIR1273H AU 0.397764 0.3363 Uncertain 4_39510122_G->T 4 39510122 39510122 G T snp 693.77 0/1 99 61 32 29 0.48 ncRNA_intronic rs11735116 MIR1273H AU 0.214257 0.1984 Uncertain 4_39510329_C->T 4 39510329 39510329 C T snp 1104.77 0/1 99 71 29 42 0.59 ncRNA_intronic rs56242282 MIR1273H AU 0.121605 0.2351 0.092447 0.1427 0.2864 Uncertain 4_39511530_-->A 4 39511530 39511530 - A indel 1124.73 1/1 85 83 4 79 0.95 splicing rs71645104 UGDH AU NM_003359 exon7 c.9765+3insA 0.325879 0.4206 0.3193 0.4510 Pathogenic 4_39528752_G->A 4 39528752 39528752 G A snp 681.77 1/1 51 25 0 25 1.0 ncRNA_intronic rs4975020 MIR1273H AU 0.741014 0.8929 0.7304 0.9030 Uncertain 4_39700173_C->T 4 39700173 39700173 C T snp 212.77 0/1 99 14 7 7 0.5 intronic rs1055582 UBE2K AU NM_005339 exon1 c.63+163C>T 0.439896 0.6419 Uncertain 4_39757480_-->T 4 39757480 39757480 - T indel 347.73 0/1 99 24 13 11 0.46 intronic rs11389468 UBE2K AU NM_005339 exon4 c.57412+121insT 0.872604 0.9196 Uncertain 4_39910173_A->- 4 39910173 39910173 A - indel 890.73 0/1 99 94 50 44 0.47 intronic rs35396203 PDS5A AU NM_001100399 exon23 c.83056+13delA 0.397564 0.6637 0.4214 0.6727 Uncertain 4_39918811_-->T 4 39918811 39918811 - T indel 722.73 0/1 99 27 7 20 0.74 splicing rs143472141 PDS5A AU NM_001100399 exon26 c.91704+3insT 0.0642971 0.1548 0.014521 0.0459 0.1948 Pathogenic 4_39921942_A->G 4 39921942 39921942 A G snp 227.77 0/1 99 30 21 9 0.3 exonic rs28449663 PDS5A AU synonymous SNV NM_001100399 exon7 c.T732C p.A244A 0.397364 0.6637 0.337408 0.4186 0.6717 Uncertain 4_39927299_G->A 4 39927299 39927299 G A snp 44.77 0/1 31 3 1 2 0.67 intronic rs61659774 PDS5A AU NM_001100399 exon29 c.100351-156G>A 0.0660942 0.1558 Uncertain 4_39930196_T->C 4 39930196 39930196 T C snp 259.77 0/1 99 20 9 11 0.55 intronic rs28643320 PDS5A AU NM_001100399 exon31 c.102680+412T>C 0.198083 0.2798 Uncertain 4_40045727_T->G 4 40045727 40045727 T G snp 2239.77 1/1 99 77 1 76 0.99 ncRNA_exonic rs1704151 LOC344967 AU 0.981629 1 Uncertain 4_40099297_A->C 4 40099297 40099297 A C snp 176.9 1/1 15 5 0 5 1.0 intronic rs793999 N4BP2 AU NM_018177 exon3 c.229+108A>C 0.907348 0.9653 Uncertain 4_40108750_C->T 4 40108750 40108750 C T snp 150.77 0/1 99 14 7 7 0.5 intronic rs1704154 N4BP2 AU NM_018177 exon5 c.9684+106C>T 0.467452 0.496 Uncertain 4_40115239_A->T 4 40115239 40115239 A T snp 747.77 0/1 99 71 43 28 0.39 intronic rs4974962 N4BP2 AU NM_018177 exon7 c.16168+111A>T 0.364217 0.379 Uncertain 4_40119399_T->G 4 40119399 40119399 T G snp 72.77 0/1 63 6 2 4 0.67 intronic rs1876874 N4BP2 AU NM_018177 exon8 c.20528-89T>G 0.159944 0.4067 Uncertain 4_40121562_G->A 4 40121562 40121562 G A snp 778.77 1/1 57 26 0 26 1.0 exonic rs794001 N4BP2 AU nonsynonymous SNV NM_018177 exon9 c.G1831A p.D611N 0.824681 0.9653 0.745651 0.8107 0.9661 1 T 0.0 P -1.018 T 0.0 T 0.0 T Pathogenic 4_40125972_A->T 4 40125972 40125972 A T snp 31.77 0/1 60 6 4 2 0.33 intronic rs60235459 N4BP2 AU NM_018177 exon11 c.26865+147A>T 0.157149 0.4028 Uncertain 4_40133614_T->C 4 40133614 40133614 T C snp 904.77 0/1 99 70 32 38 0.54 intronic rs2664209 N4BP2 AU NM_018177 exon13 c.34579+75T>C 0.127196 0.3998 Uncertain 4_40133678_A->C 4 40133678 40133678 A C snp 335.77 0/1 99 21 9 12 0.57 intronic rs28712195 N4BP2 AU NM_018177 exon13 c.34579+139A>C 0.157348 0.3998 Uncertain 4_40138676_A->G 4 40138676 40138676 A G snp 1934.77 0/1 99 174 83 91 0.52 exonic rs2271395 N4BP2 AU nonsynonymous SNV NM_018177 exon14 c.A4759G p.T1587A 0.128594 0.3998 0.036906 0.0863 0.4303 0.23 T 0.002 P -0.903 T 0.4 T 0.173 T Pathogenic 4_40144263_G->T 4 40144263 40144263 G T snp 365.77 0/1 99 27 12 15 0.56 intronic rs2664187 N4BP2 AU NM_018177 exon15 c.45332-29G>T 0.157149 0.3998 0.066615 0.0979 0.4346 Uncertain 4_40154594_A->G 4 40154594 40154594 A G snp 602.77 0/1 99 44 20 24 0.55 intronic rs3733298 N4BP2 AU NM_018177 exon17 c.55563+71A>G 0.157149 0.3988 Uncertain 4_40154660_A->T 4 40154660 40154660 A T snp 77.77 0/1 99 6 3 3 0.5 intronic rs56365389 N4BP2 AU NM_018177 exon17 c.55563+137A>T 0.365815 0.3859 Uncertain 4_40155927_T->C 4 40155927 40155927 T C snp 79.77 0/1 99 9 5 4 0.44 UTR3 rs9991922 N4BP2 AU 0.156749 0.3988 0.066872 Uncertain 4_40337908_T->C 4 40337908 40337908 T C snp 1078.77 0/1 99 119 69 50 0.42 exonic rs10022491 CHRNA9 AU synonymous SNV NM_017581 exon2 c.T129C p.S43S 0.644369 0.4008 0.654544 0.5767 0.4027 Uncertain 4_40350763_T->C 4 40350763 40350763 T C snp 648.77 1/1 48 19 0 19 1.0 intronic rs10029872 CHRNA9 AU NM_017581 exon4 c.13414-135T>C 0.509784 0.7946 Uncertain 4_40355815_G->A 4 40355815 40355815 G A snp 56.74 1/1 6 2 0 2 1.0 intronic rs4861323 CHRNA9 AU NM_017581 exon5 c.18511-180G>A 0.774361 0.8502 Uncertain 4_40356422_A->G 4 40356422 40356422 A G snp 3900.77 1/1 99 137 0 137 1.0 exonic rs10009228 CHRNA9 AU nonsynonymous SNV NM_017581 exon5 c.A1325G p.N442S 0.745008 0.8492 0.764416 0.7837 0.8672 0.56 T 0.0 P -0.955 T 0.0 T 0.003 T ID=CM119971;DIS=Increased bronchial cell proliferation and transformation;TAG=FP;PUB=22125646 FP Pathogenic 4_40428010_T->C 4 40428010 40428010 T C snp 720.77 0/1 99 57 25 32 0.56 exonic rs278981 RBM47 AU nonsynonymous SNV NM_019027 exon5 c.A1486G p.M496V 0.692292 0.5784 0.743349 0.7450 0.5823 0.36 T 0.0 P -0.919 T 0.0 T 0.0 T Pathogenic 4_40438576_A->G 4 40438576 40438576 A G snp 5137.77 1/1 99 186 0 186 1.0 exonic rs2307046 RBM47 AU synonymous SNV NM_001098634 exon5 c.T1212C p.G404G 0.805112 0.7669 0.836818 0.8534 0.8124 Uncertain 4_40438931_T->C 4 40438931 40438931 T C snp 832.77 0/1 99 66 35 31 0.47 intronic rs12503550 RBM47 AU NM_001098634 exon3 c.10744+267T>C 0.367212 0.2629 0.5888 0.2260 Uncertain 4_40439071_G->A 4 40439071 40439071 G A snp 141.03 1/1 12 4 0 4 1.0 intronic rs1970852 RBM47 AU NM_001098634 exon3 c.10744+407G>A 0.806709 0.7738 Uncertain 4_40440215_T->C 4 40440215 40440215 T C snp 7049.77 1/1 99 250 0 250 1.0 exonic rs2291580 RBM47 AU synonymous SNV NM_019027 exon3 c.A696G p.E232E 0.702476 0.7331 0.725050 0.7875 0.7609 Uncertain 4_40440854_G->C 4 40440854 40440854 G C snp 3716.77 1/1 99 131 0 131 1.0 exonic rs1052153 RBM47 AU synonymous SNV NM_019027 exon3 c.C57G p.S19S 0.801917 0.7679 0.837787 0.8572 0.8124 Uncertain 4_40778146_C->T 4 40778146 40778146 C T snp 940.77 0/1 99 117 69 48 0.41 exonic rs2465570 NSUN7 AU synonymous SNV NM_024677 exon7 c.C906T p.G302G 0.729034 0.5208 0.824823 0.7671 0.5142 Uncertain 4_40778162_T->G 4 40778162 40778162 T G snp 1005.77 0/1 99 112 66 46 0.41 exonic rs2437323 NSUN7 AU nonsynonymous SNV NM_024677 exon7 c.T922G p.S308A 0.729233 0.5208 0.824900 0.7673 0.5148 1 T 0.000 P -0.970 T 0.0 T 0.0 T Pathogenic 4_40788544_A->G 4 40788544 40788544 A G snp 429.77 0/1 99 38 22 16 0.42 intronic rs2953325 NSUN7 AU NM_024677 exon8 c.39908-4074A>G 0.728634 0.5208 Uncertain 4_40809208_A->- 4 40809208 40809208 A - indel 543.73 0/1 99 46 21 25 0.54 intronic rs113167696 NSUN7 AU NM_024677 exon11 c.56491+7delA 0.261581 0.3571 0.158782 0.1969 0.3629 Uncertain 4_40810747_A->G 4 40810747 40810747 A G snp 4773.77 1/1 99 166 0 166 1.0 exonic rs2261167 NSUN7 AU nonsynonymous SNV NM_024677 exon12 c.A1948G p.K650E 0.96905 1 0.918966 0.9462 1 1 T 1.0 P -0.965 T 0.0 T 0.0 T Pathogenic 4_40832363_C->T 4 40832363 40832363 C T snp 65.77 0/1 94 12 9 3 0.25 intronic rs2437343 APBB2 AU NM_173075 exon6 c.14371-116C>T 0.498003 0.2222 Uncertain 4_40844199_T->C 4 40844199 40844199 T C snp 1459.77 0/1 99 110 54 56 0.51 intronic rs1865605 APBB2 AU NM_001166051 exon6 c.14492+11599T>C 0.577875 0.372 Uncertain 4_40895552_G->C 4 40895552 40895552 G C snp 497.77 0/1 99 31 14 17 0.55 intronic rs6447505 APBB2 AU NM_173075 exon8 c.77320+124G>C 0.510184 0.6002 Uncertain 4_40947139_A->G 4 40947139 40947139 A G snp 73.77 0/1 99 13 8 5 0.38 intronic rs12649306 APBB2 AU NM_004307 exon12 c.128982+49A>G 0.0760783 0.1091 0.062991 0.0642 0.1131 Uncertain 4_41015823_G->A 4 41015823 41015823 G A snp 3017.77 0/1 99 249 127 122 0.49 exonic rs2292234 APBB2 AU synonymous SNV NM_001166050 exon6 c.C612T p.G204G 0.307308 0.5387 0.186152 0.3284 0.5462 0.999 P Uncertain 4_41015899_C->T 4 41015899 41015899 C T snp 2235.77 0/1 99 190 97 93 0.49 exonic rs4861358 APBB2 AU nonsynonymous SNV NM_001166050 exon6 c.G536A p.R179Q 0.674121 0.8978 0.650297 0.7487 0.8920 0.65 T 0.0 P -1.023 T 0.006 T 0.0 T Pathogenic 4_41259633_C->A 4 41259633 41259633 C A snp 1381.77 1/1 99 52 0 52 1.0 exonic rs5030732 UCHL1 AR,AU nonsynonymous SNV NM_004181 exon3 c.C53A p.S18Y 0.253994 0.5437 0.098587 0.3502 0.6011 0.37 T 0.927 P -0.933 T 0.626 T 0.228 P CLINSIG=unknown;CLNDBN=Parkinson_disease_5;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000013092.1;CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet;CLNDSDBID=NBK1223:C3150899:613643:ORPHA2828 ID=CM994452;DIS=Parkinson disease, lower risk, association with;TAG=DFP;PUB=10563640 DFP Pathogenic 4_41263718_-->T 4 41263718 41263718 - T indel 129.8 1/1 18 6 0 6 1.0 intronic rs3214812 UCHL1 AR,AU NM_004181 exon5 c.4738-13insT 0.307308 0.5357 0.2981 0.4986 Uncertain 4_41265989_C->G 4 41265989 41265989 C G snp 2502.77 1/1 99 75 0 75 1.0 intronic rs3756001 UCHL1 AR,AU NM_004181 exon8 c.7126-130C>G 0.263978 0.5417 Uncertain 4_41265994_C->A 4 41265994 41265994 C A snp 2627.77 1/1 99 81 0 81 1.0 intronic rs3756000 UCHL1 AR,AU NM_004181 exon8 c.7126-125C>A 0.198283 0.4524 Uncertain 4_41266295_C->T 4 41266295 41266295 C T snp 2085.77 1/1 99 65 0 65 1.0 intronic rs3775256 UCHL1 AR,AU NM_004181 exon8 c.7185+117C>T 0.28754 0.5427 Uncertain 4_41496412_G->A 4 41496412 41496412 G A snp 46.77 0/1 33 3 1 2 0.67 intronic rs13140756 LIMCH1 AU NM_001112718 exon2 c.133695-140G>A 0.524361 0.3095 Uncertain 4_41526250_G->A 4 41526250 41526250 G A snp 105.77 0/1 99 29 24 5 0.17 intronic rs10014221 LIMCH1 AU NM_001112718 exon3 c.163568-175G>A 0.539337 0.2927 Uncertain 4_41526503_C->T 4 41526503 41526503 C T snp 2360.77 0/1 99 224 121 103 0.46 intronic rs4266323 LIMCH1 AU NM_001112718 exon3 c.163638+8C>T 0.555312 0.2937 0.568430 0.4353 0.2465 Uncertain 4_41607754_T->C 4 41607754 41607754 T C snp 146.77 0/1 99 15 9 6 0.4 intronic rs11943304 LIMCH1 AU NM_001112718 exon6 c.245053-156T>C 0.493411 0.6885 Uncertain 4_41611575_A->G 4 41611575 41611575 A G snp 1812.77 0/1 99 157 82 75 0.48 intronic rs1105886 LIMCH1 AU NM_001112718 exon6 c.245164+3554A>G 0.687899 0.8363 Uncertain 4_41615629_C->G 4 41615629 41615629 C G snp 1963.77 0/1 99 177 93 84 0.47 exonic LIMCH1 AU synonymous SNV NM_001112719 exon2 c.C171G p.R57R 1 D -0.833 T Likely benign 4_41615690_T->A 4 41615690 41615690 T A snp 815.77 0/1 99 59 25 34 0.58 intronic rs13146318 LIMCH1 AU NM_001112719 exon2 c.587+12T>A 0.497604 0.6885 0.539597 0.6568 0.7398 Uncertain 4_41629036_-->GTGTGT 4 41629036 41629036 - GTGTGT indel 951.73 ./1 99 62 2 60 0.97 intronic rs34266308 LIMCH1 AU NM_001112719 exon3 c.6366+7579insGTGTGT 0.0267 0.0227 Uncertain 4_41629036_-->GTGT 4 41629036 41629036 - GTGT indel 951.73 ./1 99 62 2 60 0.97 intronic rs34266308 LIMCH1 AU NM_001112719 exon3 c.6366+7579insGTGT 0.2628 0.2727 Uncertain 4_41634859_C->T 4 41634859 41634859 C T snp 3408.77 1/1 99 119 0 119 1.0 intronic rs77334594 LIMCH1 AU NM_001112719 exon4 c.25857-6089C>T 0.0257588 0.128 0.0027 0.1495 Uncertain 4_41663621_G->A 4 41663621 41663621 G A snp 577.77 0/1 99 43 24 19 0.44 intronic rs17528897 LIMCH1 AU NM_001112719 exon9 c.48436+94G>A 0.46266 0.1369 Uncertain 4_41664786_A->T 4 41664786 41664786 A T snp 1440.77 0/1 99 146 85 61 0.42 intronic rs75228450 LIMCH1 AU NM_001112719 exon10 c.49746-51A>T 0.0972444 0.1062 0.074642 0.1073 0.1138 Uncertain 4_41664804_CTTCTGTACG->- 4 41664804 41664813 CTTCTGTACG - indel 7693.73 0/1 99 158 96 62 0.39 intronic rs142890171 LIMCH1 AU NM_001112719 exon10 c.49746-33_49746-24delCTTCTGTACG 0.0495208 0.1042 0.018288 0.0312 0.1113 Uncertain 4_41668465_C->A 4 41668465 41668465 C A snp 686.77 0/1 99 51 28 23 0.45 intronic rs17444537 LIMCH1 AU NM_001112719 exon11 c.53486-112C>A 0.506589 0.1389 Uncertain 4_41672759_C->T 4 41672759 41672759 C T snp 1519.77 0/1 99 111 49 62 0.56 exonic rs2289342 LIMCH1 AU nonsynonymous SNV NM_001289122 exon16 c.C2231T p.P744L 0.090655 0.1062 0.1190 0.1111 0.08 T 1.0 P -1.070 T 0.14 T 0.031 T Pathogenic 4_41672989_A->G 4 41672989 41672989 A G snp 458.77 0/1 99 28 9 19 0.68 intronic rs2289343 LIMCH1 AU NM_001289124 exon16 c.64797+180A>G 0.0980431 0.1071 Uncertain 4_41673604_T->C 4 41673604 41673604 T C snp 495.77 0/1 99 38 15 23 0.61 exonic rs11734372 LIMCH1 AU nonsynonymous SNV NM_001112720 exon11 c.T1778C p.M593T 0.485224 0.1409 0.581501 0.5046 0.1447 1 T 0.0 P -0.997 T 0.001 T 0.002 T Pathogenic 4_41678566_T->C 4 41678566 41678566 T C snp 1679.77 0/1 99 126 64 62 0.49 intronic rs2304650 LIMCH1 AU NM_001112719 exon13 c.63388+87T>C 0.0964457 0.1081 Uncertain 4_41749265_T->C 4 41749265 41749265 T C snp 141.77 0/1 99 13 8 5 0.38 intronic rs28647582 PHOX2B AU,AD NM_003924 exon2 c.1542-100T>C 0.38099 0.1706 Uncertain 4_41749668_C->T 4 41749668 41749668 C T snp 2439.77 0/1 99 238 135 103 0.43 intronic rs6811325 PHOX2B AU,AD NM_003924 exon2 c.1730+115C>T 0.376198 0.1696 0.3948 0.2483 Uncertain 4_41984118_C->T 4 41984118 41984118 C T snp 8407.77 1/1 99 248 1 247 1.0 exonic rs2660320 DCAF4L1 AU synonymous SNV NM_001029955 exon1 c.C309T p.S103S 0.658946 0.9593 0.596571 0.7564 0.9685 Uncertain 4_41985101_A->G 4 41985101 41985101 A G snp 1467.77 1/1 99 39 0 39 1.0 UTR3 rs2660332 DCAF4L1 AU 0.661542 0.9593 Uncertain 4_41992677_C->G 4 41992677 41992677 C G snp 2477.77 1/1 99 92 0 92 1.0 exonic rs2581434 SLC30A9 AU synonymous SNV NM_006345 exon1 c.C9G p.P3P 0.706869 0.9593 0.653187 0.7980 0.9678 Uncertain 4_42003671_A->G 4 42003671 42003671 A G snp 3904.77 1/1 99 152 0 152 1.0 exonic rs1047626 SLC30A9 AU nonsynonymous SNV NM_006345 exon2 c.A148G p.M50V 0.628395 0.9484 0.575504 0.7370 0.9612 1 T 0.0 P -0.949 T 0.0 T 0.0 T ID=CM1413686;DIS=Respiratory disease, aspirin-exacerbated, reduced risk;TAG=DP;PUB=25372592 DP Pathogenic 4_42003835_C->G 4 42003835 42003835 C G snp 1301.77 1/1 96 40 0 40 1.0 intronic rs2581453 SLC30A9 AU NM_006345 exon2 c.11129+38C>G 0.65595 0.9583 0.597659 0.7628 0.9695 Uncertain 4_42020142_A->G 4 42020142 42020142 A G snp 710.77 1/1 51 27 0 27 1.0 exonic rs2581423 SLC30A9 AU nonsynonymous SNV NM_006345 exon3 c.A289G p.T97A 0.979433 0.996 0.975901 0.9793 0.9948 1 T 0.0 P -0.975 T 0.0 T 0.0 T Pathogenic 4_42020347_A->G 4 42020347 42020347 A G snp 543.77 1/1 42 20 0 20 1.0 intronic rs2581422 SLC30A9 AU NM_006345 exon3 c.27519+160A>G 0.667133 0.9583 Uncertain 4_42022237_G->T 4 42022237 42022237 G T snp 141.03 1/1 12 4 0 4 1.0 intronic rs2581420 SLC30A9 AU NM_006345 exon4 c.29764-195G>T 0.667133 0.9583 Uncertain 4_42022464_C->A 4 42022464 42022464 C A snp 891.77 1/1 63 36 2 34 0.94 exonic rs15857 SLC30A9 AU synonymous SNV NM_006345 exon4 c.C366A p.G122G 0.667133 0.9583 0.607505 0.7582 0.9688 Uncertain 4_42024982_A->G 4 42024982 42024982 A G snp 502.77 1/1 39 17 0 17 1.0 intronic rs13107768 SLC30A9 AU NM_006345 exon5 c.32279+35A>G 0.667133 0.9583 0.608622 0.7628 0.9688 Uncertain 4_42025049_A->G 4 42025049 42025049 A G snp 99.28 1/1 9 3 0 3 1.0 intronic rs3213766 SLC30A9 AU NM_006345 exon5 c.32279+102A>G 0.667332 0.9583 Uncertain 4_42025207_A->G 4 42025207 42025207 A G snp 1016.77 1/1 75 36 0 36 1.0 intronic rs3213767 SLC30A9 AU NM_006345 exon6 c.32650-111A>G 0.958666 0.997 Uncertain 4_42037196_G->A 4 42037196 42037196 G A snp 159.77 0/1 64 8 3 5 0.63 intronic rs117139405 SLC30A9 AU NM_006345 exon7 c.44623-95G>A 0.0071885 0.0347 Uncertain 4_42040947_C->T 4 42040947 42040947 C T snp 3882.77 1/1 99 155 0 155 1.0 intronic rs12641900 SLC30A9 AU NM_006345 exon8 c.48334-55C>T 0.670327 0.9603 0.636224 Uncertain 4_42051257_A->G 4 42051257 42051257 A G snp 417.77 1/1 33 13 0 13 1.0 intronic rs7684837 SLC30A9 AU NM_006345 exon9 c.58725-136A>G 0.670128 0.9603 Uncertain 4_42051608_T->G 4 42051608 42051608 T G snp 96.28 1/1 9 3 0 3 1.0 intronic rs4241696 SLC30A9 AU NM_006345 exon9 c.58828+112T>G 0.71845 0.9603 Uncertain 4_42065269_A->G 4 42065269 42065269 A G snp 180.9 1/1 15 5 0 5 1.0 intronic rs3804190 SLC30A9 AU NM_006345 exon11 c.72470+131A>G 0.670327 0.9603 Uncertain 4_42069029_T->C 4 42069029 42069029 T C snp 1568.77 1/1 99 51 0 51 1.0 intronic rs12643893 SLC30A9 AU NM_006345 exon14 c.76433-72T>C 0.617212 0.9514 Uncertain 4_42069331_-->A 4 42069331 42069331 - A indel 234.8 1/1 18 6 0 6 1.0 intronic rs11409064 SLC30A9 AU NM_006345 exon14 c.76541+122insA 0.66853 0.9603 Uncertain 4_42072860_T->G 4 42072860 42072860 T G snp 141.03 1/1 12 4 0 4 1.0 intronic rs6823291 SLC30A9 AU NM_006345 exon15 c.80040+152T>G 0.98143 0.997 Uncertain 4_42088040_T->A 4 42088040 42088040 T A snp 156.9 1/1 15 5 0 5 1.0 intronic rs76028528 SLC30A9 AU NM_006345 exon18 c.95430-58T>A Uncertain 4_42402992_A->G 4 42402992 42402992 A G snp 1857.77 1/1 99 65 0 65 1.0 intronic rs66671329 SHISA3 AU NM_001080505 exon2 c.2955-36A>G 0.326677 0.5982 0.294403 0.3601 0.6100 Uncertain 4_42403561_T->C 4 42403561 42403561 T C snp 1108.77 1/1 81 29 0 29 1.0 UTR3 rs55934419 SHISA3 AU 0.327276 0.5992 Uncertain 4_42466641_C->T 4 42466641 42466641 C T snp 227.84 1/1 18 7 0 7 1.0 intronic rs12647640 ATP8A1 AU NM_006095 exon11 c.51774-65C>T 0.538938 0.7867 Uncertain 4_42487857_C->G 4 42487857 42487857 C G snp 786.77 1/1 60 20 0 20 1.0 intronic rs4441793 ATP8A1 AU NM_006095 exon13 c.72753+172C>G 0.947484 0.996 Uncertain 4_42554363_T->C 4 42554363 42554363 T C snp 192.77 0/1 99 10 4 6 0.6 intronic rs12645297 ATP8A1 AU NM_006095 exon21 c.139589-158T>C 0.327676 0.3492 Uncertain 4_42571074_A->T 4 42571074 42571074 A T snp 180.9 1/1 15 6 0 6 1.0 intronic rs6845603 ATP8A1 AU NM_006095 exon23 c.156245-103A>T 0.963858 0.998 Uncertain 4_42576522_C->T 4 42576522 42576522 C T snp 907.77 0/1 99 74 40 34 0.46 intronic rs2290869 ATP8A1 AU NM_006095 exon24 c.161703-113C>T 0.368411 0.5595 Uncertain 4_42577517_A->G 4 42577517 42577517 A G snp 413.77 0/1 99 22 8 14 0.64 intronic rs2290868 ATP8A1 AU NM_006095 exon25 c.162706-121A>G 0.183706 0.3502 Uncertain 4_42582047_A->C 4 42582047 42582047 A C snp 431.77 1/1 33 11 0 11 1.0 intronic rs6447171 ATP8A1 AU NM_006095 exon27 c.167063+52A>C 0.896366 0.9623 0.874175 0.9161 0.9765 Uncertain 4_42592935_-->A 4 42592935 42592935 - A indel 237.73 0/1 99 31 11 20 0.65 intronic rs3833615 ATP8A1 AU NM_006095 exon31 c.177969+34insA 0.555112 0.5546 0.586807 0.5445 0.5145 Uncertain 4_42602606_A->C 4 42602606 42602606 A C snp 573.77 1/1 42 20 0 20 1.0 intronic rs6819419 ATP8A1 AU NM_006095 exon32 c.187603+71A>C 0.953874 1 0.956598 Uncertain 4_42626660_A->- 4 42626660 42626660 A - indel 119.73 0/1 96 16 6 10 0.63 intronic rs11306052 ATP8A1 AU NM_006095 exon34 c.211719+9delA 0.59984 0.5883 0.5676 0.5441 Uncertain 4_42627805_A->C 4 42627805 42627805 A C snp 437.77 1/1 33 14 0 14 1.0 intronic rs1460358 ATP8A1 AU NM_006095 exon35 c.212798+75A>C 0.954073 1 Uncertain 4_42627836_C->T 4 42627836 42627836 C T snp 44.77 0/1 36 4 2 2 0.5 intronic rs2306004 ATP8A1 AU NM_006095 exon35 c.212798+106C>T 0.327875 0.4762 Uncertain 4_42639186_A->G 4 42639186 42639186 A G snp 1763.77 0/1 99 124 52 72 0.58 intronic rs898500 ATP8A1 AU NM_006095 exon36 c.214194+10060A>G 0.482827 0.3175 0.507848 0.4831 0.3083 Uncertain 4_42895308_G->A 4 42895308 42895308 G A snp 801.77 0/1 99 54 22 32 0.59 exonic rs78136490 GRXCR1 AR nonsynonymous SNV NM_001080476 exon1 c.G25A p.E9K 0.123203 0.1567 0.103109 0.0883 0.1581 0.38 T 0.998 P -1.045 T 0.155 T 0.014 T CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000036856.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 4_42895715_A->G 4 42895715 42895715 A G snp 1717.77 0/1 99 138 67 71 0.51 intronic rs41493449 GRXCR1 AR NM_001080476 exon1 c.384+48A>G 0.123203 0.1567 0.099457 0.0878 0.1581 Uncertain 4_42965159_A->C 4 42965159 42965159 A C snp 6524.77 1/1 99 240 1 239 1.0 intronic rs10213360 GRXCR1 AR NM_001080476 exon2 c.69868+8A>C 0.855032 0.9841 0.825183 0.8089 0.9923 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000036857.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 4_43032612_G->A 4 43032612 43032612 G A snp 1062.77 1/1 78 37 0 37 1.0 UTR3 rs4861050 GRXCR1 AR 0.536142 0.7877 Uncertain 4_44295839_G->A 4 44295839 44295839 G A snp 893.77 0/1 99 64 26 38 0.59 intronic rs13117500 KCTD8 AU NM_198353 exon1 c.461+118572G>A 0.230831 0.2768 0.2599 0.2652 0.0 P Uncertain 4_44295943_A->G 4 44295943 44295943 A G snp 291.77 0/1 99 15 5 10 0.67 intronic rs13145563 KCTD8 AU NM_198353 exon1 c.461+118676A>G 0.230831 0.2768 Uncertain 4_44651968_-->A 4 44651968 44651968 - A indel 57.73 0/1 95 16 10 6 0.38 intronic rs574122237 YIPF7 AU NM_182592 exon5 c.27571-33insA 0.1220 0.1719 Uncertain 4_44652187_C->G 4 44652187 44652187 C G snp 387.77 1/1 30 11 0 11 1.0 intronic rs1113098 YIPF7 AU NM_182592 exon5 c.27688+69C>G 0.552915 0.5238 Uncertain 4_44653414_G->C 4 44653414 44653414 G C snp 50.74 1/1 6 2 0 2 1.0 intronic rs1388310 YIPF7 AU NM_182592 exon6 c.29140-156G>C 0.720647 0.7748 Uncertain 4_44682465_T->C 4 44682465 44682465 T C snp 425.77 0/1 99 53 34 19 0.36 exonic rs6447368 GUF1 AU nonsynonymous SNV NM_021927 exon2 c.T173C p.L58P 0.440296 0.4018 0.537521 0.5915 0.4519 0.09 T 0.001 P -0.917 T 0.0 T 0.001 T Pathogenic 4_44684438_A->G 4 44684438 44684438 A G snp 439.77 0/1 99 46 24 22 0.48 intronic rs2306993 GUF1 AU NM_021927 exon5 c.3789+10A>G 0.0934505 0.122 0.065923 0.0795 0.1101 Uncertain 4_44684455_C->T 4 44684455 44684455 C T snp 1129.77 1/1 81 37 0 37 1.0 intronic rs13117025 GUF1 AU NM_021927 exon5 c.3789+27C>T 0.95627 1 0.962456 0.9889 1 Uncertain 4_44684507_C->T 4 44684507 44684507 C T snp 514.77 1/1 39 14 0 14 1.0 intronic rs9291245 GUF1 AU NM_021927 exon5 c.3789+79C>T 0.999201 1 Uncertain 4_44685224_-->A 4 44685224 44685224 - A indel 674.73 1/1 51 17 0 17 1.0 intronic rs112232487 GUF1 AU NM_021927 exon6 c.4612-27insA 0.977957 0.9941 1 Uncertain 4_44685225_T->A 4 44685225 44685225 T A snp 556.77 1/1 42 17 1 16 0.94 intronic rs58659516 GUF1 AU NM_021927 exon6 c.4612-26T>A 0.976438 1 0.9941 1 Uncertain 4_44690320_A->T 4 44690320 44690320 A T snp 116.77 0/1 99 8 4 4 0.5 intronic rs1491304 GUF1 AU NM_021927 exon9 c.9524+157A>T 0.457468 0.4018 Uncertain 4_44691207_A->- 4 44691207 44691207 A - indel 239.73 0/1 99 16 8 8 0.5 intronic rs3215027 GUF1 AU NM_021927 exon10 c.10663-95delA 0.423522 0.4008 Uncertain 4_44691795_-->A 4 44691795 44691795 - A indel 1290.73 1/1 36 80 8 72 0.9 intronic rs11373408 GUF1 AU NM_021927 exon11 c.11220-64insA 0.50599 0.5079 Uncertain 4_44696538_C->G 4 44696538 44696538 C G snp 925.77 1/1 66 34 0 34 1.0 intronic rs12641137 GUF1 AU NM_021927 exon14 c.15891+8C>G 0.976438 1 0.977692 0.9940 1 Uncertain 4_44697921_A->G 4 44697921 44697921 A G snp 54.74 1/1 6 2 0 2 1.0 intronic rs9291246 GUF1 AU NM_021927 exon15 c.17112+170A>G 0.440096 0.4018 Uncertain 4_44699484_T->G 4 44699484 44699484 T G snp 570.77 0/1 99 70 43 27 0.39 intronic rs6851576 GUF1 AU NM_021927 exon16 c.18822+23T>G 0.440096 0.4018 0.538106 0.5622 0.4004 Uncertain 4_44699506_C->T 4 44699506 44699506 C T snp 504.77 0/1 99 56 34 22 0.39 intronic rs6821295 GUF1 AU NM_021927 exon16 c.18822+45C>T 0.440096 0.4018 0.537922 0.5625 0.4007 Uncertain 4_44699585_G->T 4 44699585 44699585 G T snp 436.77 0/1 84 19 4 15 0.79 intronic rs73815518 GUF1 AU NM_021927 exon16 c.18822+124G>T 0.0934505 0.122 Uncertain 4_44700453_G->C 4 44700453 44700453 G C snp 120.77 0/1 66 6 2 4 0.67 intronic rs1547526 GUF1 AU NM_021927 exon17 c.19921-107G>C 0.423522 0.4008 Uncertain 4_44709695_C->T 4 44709695 44709695 C T snp 376.77 1/1 30 11 0 11 1.0 intronic rs1491302 GNPDA2 AU NM_001270880 exon2 c.4671-73C>T 0.956669 1 Uncertain 4_44712908_T->C 4 44712908 44712908 T C snp 350.77 0/1 99 37 22 15 0.41 intronic rs3749582 GNPDA2 AU NM_001270880 exon3 c.7872-61T>C 0.440096 0.4018 Uncertain 4_44713235_A->G 4 44713235 44713235 A G snp 396.77 0/1 45 16 2 14 0.88 intronic rs1124828 GNPDA2 AU NM_001270880 exon3 c.8057+81A>G 0.440495 0.4028 Uncertain 4_44719048_A->T 4 44719048 44719048 A T snp 112.77 0/1 99 10 5 5 0.5 intronic rs1873522 GNPDA2 AU NM_001270880 exon4 c.14032-81A>T 0.439696 0.4008 Uncertain 4_44720248_T->A 4 44720248 44720248 T A snp 267.77 0/1 99 20 10 10 0.5 intronic rs3792705 GNPDA2 AU NM_001270881 exon5 c.15228-77T>A 0.440096 0.4018 Uncertain 4_46042945_C->T 4 46042945 46042945 C T snp 414.77 0/1 99 23 9 14 0.61 UTR3 rs6447493 GABRG1 AU 0.461462 0.3264 Uncertain 4_46060412_G->T 4 46060412 46060412 G T snp 518.77 0/1 99 62 40 22 0.35 intronic rs77939156 GABRG1 AU NM_173536 exon3 c.17382+26G>T 0.0265575 0.1071 0.000770 0.0175 0.1424 Uncertain 4_46066356_C->T 4 46066356 46066356 C T snp 41.77 0/1 70 4 2 2 0.5 intronic rs6838525 GABRG1 AU NM_173536 exon5 c.23453-101C>T 0.463059 0.3264 Uncertain 4_46086060_T->C 4 46086060 46086060 T C snp 376.77 0/1 99 41 22 19 0.46 exonic rs976156 GABRG1 AU synonymous SNV NM_173536 exon3 c.A264G p.T88T 0.508986 0.3304 0.602373 0.5726 0.4510 Uncertain 4_46263862_-->G 4 46263862 46263862 - G indel 712.73 0/1 99 54 31 23 0.43 intronic rs35496835 GABRA2 AO NM_001114175 exon2 c.11618-80insG 0.510583 0.5218 0.5833 0.5590 Uncertain 4_46263864_T->A 4 46263864 46263864 T A snp 668.77 0/1 99 54 31 23 0.43 intronic rs10938435 GABRA2 AO NM_001114175 exon2 c.11618-78T>A 0.510583 0.5218 0.5841 0.5601 Uncertain 4_46305733_T->C 4 46305733 46305733 T C snp 43.77 0/1 56 4 2 2 0.5 intronic rs279871 GABRA2 AO NM_001114175 exon3 c.53305+104T>C 0.366813 0.5327 CLINSIG=other;CLNDBN=Alcoholism\x2c_susceptibility_to;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000017605.1;CLNDSDB=.;CLNDSDBID=. Uncertain 4_46314593_T->C 4 46314593 46314593 T C snp 1135.77 0/1 99 92 36 56 0.61 exonic rs279858 GABRA2 AO synonymous SNV NM_001114175 exon4 c.A396G p.K132K 0.363019 0.5327 0.377576 0.3980 0.5168 Uncertain 4_46334702_A->G 4 46334702 46334702 A G snp 302.77 0/1 99 28 13 15 0.54 splicing rs279827 GABRA2 AO NM_001114175 exon7 c.82375+3A>G 0.412939 0.5665 0.412656 0.4294 0.5601 Pathogenic 4_46334810_A->C 4 46334810 46334810 A C snp 88.77 0/1 30 6 1 5 0.83 intronic rs279828 GABRA2 AO NM_001114175 exon7 c.82375+111A>C 0.412939 0.5794 Uncertain 4_46736853_A->T 4 46736853 46736853 A T snp 152.9 1/1 15 5 0 5 1.0 UTR3 rs11736008 COX7B2 AU Uncertain 4_46973438_A->G 4 46973438 46973438 A G snp 135.03 1/1 12 5 0 5 1.0 intronic rs17599416 GABRA4 AU NM_001204266 exon3 c.43011+186A>G 0.173123 0.2569 Uncertain 4_46995312_C->G 4 46995312 46995312 C G snp 1393.77 0/1 99 81 28 53 0.65 intronic rs748762573 GABRA4 AU NM_000809 exon9 c.65114-43C>G 8.266e-06 0.0001 Uncertain 4_47033772_G->T 4 47033772 47033772 G T snp 2122.77 0/1 99 159 75 84 0.53 intronic rs11735112 GABRB1 AU NM_000812 exon1 c.80+24G>T 0.0754792 0.119 0.1527 0.3170 Uncertain 4_47034090_C->A 4 47034090 47034090 C A snp 111.77 0/1 99 51 40 11 0.22 intronic GABRB1 AU NM_000812 exon2 c.354+68C>A Uncertain 4_47034104_G->A 4 47034104 47034104 G A snp 1088.77 1/1 81 28 0 28 1.0 intronic rs6847977 GABRB1 AU NM_000812 exon2 c.354+82G>A 0.386382 0.3512 Uncertain 4_47034145_-->CA 4 47034145 47034145 - CA indel 130.73 0/1 93 19 4 15 0.79 intronic rs71193897 GABRB1 AU NM_000812 exon2 c.354+123insCA Uncertain 4_47034626_C->G 4 47034626 47034626 C G snp 2440.77 0/1 99 221 119 102 0.46 intronic rs41309288 GABRB1 AU NM_000812 exon3 c.833+125C>G 0.584265 0.6617 0.6109 0.7284 Uncertain 4_47322190_T->C 4 47322190 47322190 T C snp 3971.77 1/1 99 151 1 150 0.99 exonic rs4482737 GABRB1 AU synonymous SNV NM_000812 exon5 c.T508C p.L170L 0.969649 1 0.961556 0.9841 0.9999 Uncertain 4_47514685_C->T 4 47514685 47514685 C T snp 1920.77 0/1 99 171 81 90 0.53 exonic rs33995001 ATP10D AU nonsynonymous SNV NM_020453 exon2 c.C128T p.T43I 0.304912 0.1558 0.389666 0.3865 0.1493 0.4 T 0.0 P -0.911 T 0.504 P 0.096 P Pathogenic 4_47525009_T->A 4 47525009 47525009 T A snp 703.77 1/1 54 25 0 25 1.0 intronic rs5858076 ATP10D AU NM_020453 exon4 c.10471-19T>A 0.988419 0.995 0.9903 0.9913 Uncertain 4_47538044_G->A 4 47538044 47538044 G A snp 1656.77 0/1 99 162 91 71 0.44 exonic rs35012290 ATP10D AU nonsynonymous SNV NM_020453 exon7 c.G1009A p.A337T 0.0535144 0.0516 0.056829 0.0718 0.0591 0.1 T 0.987 P -0.474 T 1.0 D 0.995 D Pathogenic 4_47538360_T->C 4 47538360 47538360 T C snp 393.77 0/1 99 25 12 13 0.52 intronic rs13152689 ATP10D AU NM_020453 exon8 c.23896-93T>C 0.677316 0.8641 Uncertain 4_47560163_C->A 4 47560163 47560163 C A snp 2675.77 0/1 99 247 127 120 0.49 exonic rs11729411 ATP10D AU synonymous SNV NM_020453 exon12 c.C2307A p.I769I 0.224641 0.2986 0.213286 0.2181 0.3138 Uncertain 4_47560403_T->C 4 47560403 47560403 T C snp 161.77 0/1 99 22 16 6 0.27 intronic rs62298023 ATP10D AU NM_020453 exon12 c.45733+113T>C 0.232428 0.4841 Uncertain 4_47562802_-->C 4 47562802 47562802 - C indel 348.73 0/1 99 27 16 11 0.41 intronic rs34470690 ATP10D AU NM_020453 exon14 c.48408-163insC 0.0175719 0.0367 Uncertain 4_47565481_G->C 4 47565481 47565481 G C snp 213.77 0/1 99 13 6 7 0.54 intronic rs6842801 ATP10D AU NM_020453 exon15 c.51040-116G>C 0.257588 0.496 Uncertain 4_47565863_A->- 4 47565863 47565863 A - indel 95.73 0/1 38 11 2 9 0.82 intronic rs71951443 ATP10D AU NM_020453 exon15 c.51225+81delA 0.257588 0.4931 Uncertain 4_47579082_A->C 4 47579082 47579082 A C snp 662.77 0/1 99 36 14 22 0.61 intronic rs80129210 ATP10D AU NM_020453 exon19 c.64433+92A>C 0.0233626 0.1081 Uncertain 4_47582387_A->C 4 47582387 47582387 A C snp 3553.77 0/1 99 250 124 126 0.5 intronic rs2351791 ATP10D AU NM_020453 exon20 c.67857-27A>C 0.741613 0.7073 0.760188 0.7609 0.7019 Uncertain 4_47584046_G->A 4 47584046 47584046 G A snp 3597.77 0/1 99 250 122 128 0.51 exonic rs1058793 ATP10D AU nonsynonymous SNV NM_020453 exon21 c.G3718A p.V1240I 0.299521 0.5724 0.207596 0.2204 0.5880 1 T 1.0 P -0.931 T 0.001 T 0.0 T Pathogenic 4_47589203_G->A 4 47589203 47589203 G A snp 4562.77 1/1 99 161 0 161 1.0 exonic rs1316874 ATP10D AU synonymous SNV NM_020453 exon22 c.G3921A p.T1307T 0.170927 0.4921 0.072351 0.1311 0.4819 Uncertain 4_47589299_C->A 4 47589299 47589299 C A snp 1525.77 1/1 99 45 0 45 1.0 intronic rs2351790 ATP10D AU NM_020453 exon22 c.74666+76C>A 0.558307 0.6151 Uncertain 4_47592993_-->GG 4 47592993 47592993 - GG indel 216.75 1/1 24 8 0 8 1.0 intronic rs4031826 ATP10D AU NM_020453 exon23 c.78501-65insGG Uncertain 4_47593008_T->C 4 47593008 47593008 T C snp 261.8 1/1 21 10 0 10 1.0 intronic rs1316781 ATP10D AU NM_020453 exon23 c.78501-50T>C 0.558307 0.6151 0.529992 0.5015 0.5690 Uncertain 4_47593532_G->A 4 47593532 47593532 G A snp 505.77 1/1 39 13 0 13 1.0 UTR3 rs12641970 ATP10D AU 0.18111 0.4921 Uncertain 4_47655730_A->G 4 47655730 47655730 A G snp 2045.77 1/1 99 61 0 61 1.0 intronic rs3805392 CORIN AU NM_001278586 exon3 c.10763+53A>G 0.166534 0.4752 Uncertain 4_47667064_T->C 4 47667064 47667064 T C snp 3723.77 1/1 99 133 1 132 0.99 exonic rs11934749 CORIN AU nonsynonymous SNV NM_006587 exon11 c.A1574G p.H525R 0.910942 0.9722 0.890589 0.8763 0.9764 0.89 T 0.000 P -0.955 T 0.0 T 0.0 T Pathogenic 4_47679928_T->C 4 47679928 47679928 T C snp 2008.77 1/1 99 69 0 69 1.0 intronic rs2271036 CORIN AU NM_001278586 exon7 c.35040-26T>C 0.379792 0.6071 0.306397 0.2931 0.6256 Uncertain 4_47680085_T->G 4 47680085 47680085 T G snp 2005.77 1/1 99 70 0 70 1.0 intronic rs2271037 CORIN AU NM_001278586 exon7 c.35157+14T>G 0.443091 0.6091 0.372597 0.3118 0.6262 Uncertain 4_47839929_C->T 4 47839929 47839929 C T snp 755.77 0/1 99 58 24 34 0.59 exonic rs2289433 CORIN AU nonsynonymous SNV NM_006587 exon1 c.G38A p.C13Y 0.69349 0.6875 0.705213 0.7369 0.6377 0.87 T 0.0 P -1.028 T 0.0 T 0.0 T Pathogenic 4_47853843_T->C 4 47853843 47853843 T C snp 1964.77 0/1 99 151 65 86 0.57 ncRNA_intronic rs6822668 LOC101927179 AU 0.716853 0.6875 0.726853 0.7448 0.6383 Uncertain 4_47880494_G->A 4 47880494 47880494 G A snp 1053.77 0/1 99 63 27 36 0.57 ncRNA_intronic rs2289435 LOC101927179 AU 0.398163 0.5933 0.322620 0.3545 0.5538 Uncertain 4_47881191_C->T 4 47881191 47881191 C T snp 82.77 0/1 99 10 5 5 0.5 ncRNA_intronic rs9997555 LOC101927179 AU 0.398363 0.5933 0.313476 Uncertain 4_47886319_A->C 4 47886319 47886319 A C snp 207.77 0/1 99 14 6 8 0.57 ncRNA_intronic rs12510002 LOC101927179 AU 0.389177 0.6002 0.316425 0.3564 0.5662 Uncertain 4_47887393_C->T 4 47887393 47887393 C T snp 219.77 0/1 99 15 8 7 0.47 ncRNA_intronic rs16860723 LOC101927179 AU 0.134784 0.2956 Uncertain 4_47887536_T->C 4 47887536 47887536 T C snp 3253.77 0/1 99 250 133 117 0.47 exonic rs2053404 NFXL1 AU synonymous SNV NM_152995 exon14 c.A1803G p.A601A 0.716853 0.6875 0.726742 0.7441 0.6381 Uncertain 4_47887991_G->A 4 47887991 47887991 G A snp 919.77 0/1 99 115 75 40 0.35 exonic rs6818556 NFXL1 AU synonymous SNV NM_152995 exon13 c.C1569T p.T523T 0.716653 0.6875 0.726588 0.7441 0.6399 Uncertain 4_47896057_T->C 4 47896057 47896057 T C snp 76.77 0/1 99 10 6 4 0.4 ncRNA_intronic rs73244439 LOC101927179 AU 0.11901 0.2956 Uncertain 4_47898491_C->T 4 47898491 47898491 C T snp 1072.77 0/1 99 81 41 40 0.49 ncRNA_intronic rs6447592 LOC101927179 AU 0.716653 0.6875 0.725973 0.7435 0.6363 Uncertain 4_47900187_AAAT->- 4 47900187 47900190 AAAT - indel 862.73 0/1 99 27 10 17 0.63 intronic rs145577149 NFXL1 AU NM_152995 exon15 c.49919+89_49919+92delAAAT 0.400958 0.6002 Uncertain 4_47901476_G->A 4 47901476 47901476 G A snp 1505.77 0/1 99 162 90 72 0.44 exonic rs12651301 NFXL1 AU nonsynonymous SNV NM_152995 exon6 c.C737T p.P246L 0.388778 0.6002 0.317623 0.3513 0.5639 0.32 T 1.000 P -0.904 T 1.0 D 1.0 D Pathogenic 4_47905158_A->G 4 47905158 47905158 A G snp 755.77 1/1 57 23 0 23 1.0 intronic rs2119204 NFXL1 AU NM_152995 exon19 c.55030-51A>G 0.851438 0.9831 0.809034 Uncertain 4_47916346_C->G 4 47916346 47916346 C G snp 93.28 1/1 9 3 0 3 1.0 ncRNA_exonic rs6826122 LOC101927157 AU 0.99361 1 Uncertain 4_47944030_A->- 4 47944030 47944030 A - indel 436.73 1/1 50 31 2 29 0.94 ncRNA_intronic rs10709670 LOC101927157 AU 0.59984 0.6815 0.4187 0.4168 Uncertain 4_47945295_C->T 4 47945295 47945295 C T snp 189.77 0/1 99 26 15 11 0.42 exonic rs28642966 CNGA1 AU nonsynonymous SNV NM_000087 exon8 c.G352A p.D118N 0.199681 0.3036 0.120816 0.1770 0.3533 0.63 T 0.012 P -0.948 T 0.001 T 0.001 T CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000153037.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 4_47945455_C->G 4 47945455 47945455 C G snp 391.77 1/1 30 16 0 16 1.0 ncRNA_intronic rs6819506 LOC101927157 AU 0.851837 0.9831 0.812395 0.8028 0.9757 Uncertain 4_47951945_G->A 4 47951945 47951945 G A snp 5600.77 1/1 99 207 0 207 1.0 ncRNA_intronic rs1972883 LOC101927157 AU 0.880391 0.9831 0.836116 0.8372 0.9732 Uncertain 4_47953515_A->T 4 47953515 47953515 A T snp 1355.77 1/1 96 53 0 53 1.0 ncRNA_intronic rs3845160 LOC101927157 AU 0.88099 0.9831 0.838945 0.8372 0.9732 Uncertain 4_47973031_G->A 4 47973031 47973031 G A snp 90.77 0/1 72 9 3 6 0.67 ncRNA_intronic rs28475840 LOC101927157 AU 0.235823 0.3373 0.1467 0.3106 Uncertain 4_48018761_A->G 4 48018761 48018761 A G snp 156.77 0/1 90 8 3 5 0.63 upstream rs77335151 NIPAL1 AU 0.135184 0.1667 Uncertain 4_48069696_G->C 4 48069696 48069696 G C snp 1935.77 0/1 99 183 97 86 0.47 exonic rs2230594 TXK AU synonymous SNV NM_003328 exon15 c.C1542G p.A514A 0.434105 0.4306 0.458404 0.5105 0.4360 Uncertain 4_48069725_G->A 4 48069725 48069725 G A snp 1191.77 0/1 99 118 66 52 0.44 splicing rs9996535 TXK AU NM_003328 exon1 c.69+3G>A 0.434105 0.4306 0.458404 0.5105 0.4357 Pathogenic 4_48073356_A->T 4 48073356 48073356 A T snp 43.77 0/1 72 6 3 3 0.5 intronic rs80255678 TXK AU NM_003328 exon2 c.3880-177A>T 0.211462 0.3591 Uncertain 4_48073501_G->T 4 48073501 48073501 G T snp 3594.77 1/1 99 131 0 131 1.0 intronic rs906486 TXK AU NM_003328 exon2 c.3880-32G>T 0.838458 0.998 0.830694 0.8858 0.9998 Uncertain 4_48078593_C->A 4 48078593 48078593 C A snp 3812.77 1/1 99 134 1 133 0.99 intronic rs6850108 TXK AU NM_003328 exon4 c.8830+110C>A 0.633387 0.9256 Uncertain 4_48081837_G->A 4 48081837 48081837 G A snp 179.77 0/1 99 16 9 7 0.44 intronic TXK AU NM_003328 exon5 c.12275-91G>A Uncertain 4_48082208_T->C 4 48082208 48082208 T C snp 2435.77 1/1 99 81 0 81 1.0 intronic rs2352590 TXK AU NM_003328 exon5 c.12492+63T>C 0.954673 1 0.9864 1 Uncertain 4_48088419_C->T 4 48088419 48088419 C T snp 2374.77 1/1 99 73 1 72 0.99 intronic rs6833403 TXK AU NM_003328 exon6 c.18829-63C>T 0.460064 0.7649 Uncertain 4_48088446_A->G 4 48088446 48088446 A G snp 3376.77 1/1 99 113 0 113 1.0 intronic rs6858664 TXK AU NM_003328 exon6 c.18829-36A>G 0.869409 1 0.856912 0.9605 1 Uncertain 4_48096980_G->A 4 48096980 48096980 G A snp 321.77 0/1 99 25 13 12 0.48 intronic rs1466997 TXK AU NM_003328 exon9 c.27506-179G>A 0.21885 0.3671 Uncertain 4_48139307_TTAT->- 4 48139307 48139310 TTAT - indel 4789.73 1/1 99 72 0 72 1.0 UTR3 rs3062021 TEC AU 0.427516 0.7034 Uncertain 4_48139565_C->A 4 48139565 48139565 C A snp 3151.77 1/1 99 112 1 111 0.99 intronic rs2661529 TEC AU NM_003215 exon1 c.84+49C>A 0.812101 0.9097 0.785253 0.7908 0.9147 Uncertain 4_48147612_T->G 4 48147612 48147612 T G snp 2865.77 1/1 99 91 0 91 1.0 intronic rs2661547 TEC AU NM_003215 exon6 c.8164+16T>G 0.824481 0.9107 0.806705 0.8062 0.9158 Uncertain 4_48151452_A->T 4 48151452 48151452 A T snp 56.74 1/1 6 2 0 2 1.0 intronic rs1507919 TEC AU NM_003215 exon8 c.12141-121A>T 0.824481 0.9097 Uncertain 4_48158524_G->A 4 48158524 48158524 G A snp 547.77 1/1 42 16 0 16 1.0 intronic rs882715 TEC AU NM_003215 exon10 c.19264-172G>A 0.789337 0.9087 Uncertain 4_48165834_T->C 4 48165834 48165834 T C snp 1332.77 1/1 96 49 1 48 0.98 intronic rs13104849 TEC AU NM_003215 exon11 c.26352+50T>C 0.500998 0.8929 0.4128 0.8916 Uncertain 4_48165835_-->GAAA 4 48165835 48165835 - GAAA indel 2562.73 1/1 99 49 0 49 1.0 intronic rs10632072 TEC AU NM_003215 exon11 c.26352+51insGAAA 0.516973 0.8929 0.288096 0.3721 0.8548 Uncertain 4_48165889_TTA->- 4 48165889 48165891 TTA - indel 1716.73 1/1 90 32 0 32 1.0 intronic rs10541518 TEC AU NM_003215 exon11 c.26352+105_26352+107delTTA 0.815296 0.9097 Uncertain 4_48169616_C->T 4 48169616 48169616 C T snp 331.78 1/1 27 9 0 9 1.0 intronic rs3805179 TEC AU NM_003215 exon12 c.30362-178C>T 0.517372 0.8929 Uncertain 4_48169769_A->G 4 48169769 48169769 A G snp 5836.77 1/1 99 215 0 215 1.0 intronic rs7689953 TEC AU NM_003215 exon12 c.30362-25A>G 0.75599 0.9097 0.728741 0.7853 0.9158 Uncertain 4_48170669_A->G 4 48170669 48170669 A G snp 1560.77 1/1 99 60 0 60 1.0 intronic rs2243840 TEC AU NM_003215 exon13 c.31211+26A>G 0.824281 0.9097 0.807473 0.8061 0.9156 Uncertain 4_48172218_C->T 4 48172218 48172218 C T snp 1658.77 1/1 99 65 0 65 1.0 intronic rs2271174 TEC AU NM_003215 exon14 c.32832-46C>T 0.520767 0.8929 0.339033 0.4222 0.8905 Uncertain 4_48172266_G->A 4 48172266 48172266 G A snp 1648.77 1/1 99 67 0 67 1.0 exonic rs2271173 TEC AU synonymous SNV NM_003215 exon5 c.C453T p.S151S 0.520767 0.8929 0.341112 0.4227 0.8913 Uncertain 4_48173547_A->G 4 48173547 48173547 A G snp 1755.77 1/1 99 59 0 59 1.0 intronic rs7669393 TEC AU NM_003215 exon15 c.34034+81A>G 0.519369 0.8929 Uncertain 4_48177914_A->G 4 48177914 48177914 A G snp 209.84 1/1 18 6 0 6 1.0 intronic rs7696119 TEC AU NM_003215 exon16 c.38666-184A>G 0.519369 0.8929 Uncertain 4_48177954_A->G 4 48177954 48177954 A G snp 1351.77 1/1 99 37 0 37 1.0 intronic rs7696271 TEC AU NM_003215 exon16 c.38666-144A>G 0.519369 0.8929 Uncertain 4_48178003_-->AATCAGCC 4 48178003 48178003 - AATCAGCC indel 10597.7 1/1 99 101 0 101 1.0 intronic rs111293440 TEC AU NM_003215 exon16 c.38666-95insAATCAGCC 0.519369 0.8929 Uncertain 4_48178064_C->A 4 48178064 48178064 C A snp 2814.77 0/1 99 249 122 127 0.51 intronic rs45598338 TEC AU NM_003215 exon16 c.38666-34C>A 0.158347 0.3482 0.107028 0.1362 0.3155 Uncertain 4_48343693_G->A 4 48343693 48343693 G A snp 189.77 0/1 99 11 5 6 0.55 UTR5 rs1876834 SLAIN2 AU 0.336262 0.373 Uncertain 4_48344154_G->T 4 48344154 48344154 G T snp 642.77 0/1 99 43 17 26 0.6 intronic rs28464394 SLAIN2 AU NM_020846 exon1 c.389+9G>T 0.339657 0.373 0.219247 0.5138 0.5938 Uncertain 4_48372085_T->G 4 48372085 48372085 T G snp 709.77 0/1 99 35 12 23 0.66 intronic rs1466631 SLAIN2 AU NM_020846 exon2 c.28258+71T>G 0.829073 0.8671 Uncertain 4_48380208_G->A 4 48380208 48380208 G A snp 77.77 0/1 99 7 4 3 0.43 intronic rs2291476 SLAIN2 AU NM_020846 exon3 c.36321+131G>A 0.827875 0.8671 Uncertain 4_48396496_C->A 4 48396496 48396496 C A snp 230.77 0/1 99 18 8 10 0.56 intronic rs4694894 SLAIN2 AU NM_020846 exon6 c.42045+10695C>A 0.827676 0.8671 Uncertain 4_48486193_C->G 4 48486193 48486193 C G snp 2656.77 0/1 99 241 130 111 0.46 intronic rs6845250 SLC10A4 AU NM_152679 exon1 c.590+25C>G 0.159944 0.1171 0.206136 0.1929 0.1106 Uncertain 4_48487297_T->A 4 48487297 48487297 T A snp 194.77 0/1 99 11 5 6 0.55 intronic rs7676578 SLC10A4 AU NM_152679 exon2 c.1581+138T>A 0.189896 0.1171 Uncertain 4_48492188_A->T 4 48492188 48492188 A T snp 380.77 1/1 30 10 0 10 1.0 upstream;downstream rs9997932 ZAR1;SLC10A4 UN 0.986022 1 Uncertain 4_48492213_C->T 4 48492213 48492213 C T snp 211.77 0/1 99 16 7 9 0.56 upstream;downstream rs10031120 ZAR1;SLC10A4 UN 0.350439 0.4038 Uncertain 4_48492287_G->T 4 48492287 48492287 G T snp 978.77 0/1 99 77 36 41 0.53 UTR5 rs10938533 ZAR1 AU 0.154752 0.3532 0.050013 0.2173 0.4777 Uncertain 4_48492434_G->C 4 48492434 48492434 G C snp 3523.77 1/1 99 131 0 131 1.0 exonic rs10008444 ZAR1 AU nonsynonymous SNV NM_175619 exon1 c.G126C p.Q42H 0.986022 1 0.990546 0.9973 1 0.57 T 0.0 P -1.023 T 0.0 T 0.0 T Pathogenic 4_48494708_A->T 4 48494708 48494708 A T snp 683.77 0/1 99 60 36 24 0.4 intronic rs35912975 ZAR1 AU NM_175619 exon2 c.2474-74A>T 0.11222 0.1081 Uncertain 4_48516970_C->T 4 48516970 48516970 C T snp 902.77 1/1 66 31 0 31 1.0 intronic rs7434721 FRYL AU NM_015030 exon9 c.15606-74C>T 0.987021 1 Uncertain 4_48517352_C->A 4 48517352 48517352 C A snp 99.28 1/1 9 4 0 4 1.0 intronic rs7661515 FRYL AU NM_015030 exon9 c.15854+60C>A 0.521565 0.5288 Uncertain 4_48529684_A->- 4 48529684 48529684 A - indel 428.73 0/1 84 43 10 33 0.77 intronic rs11356838 FRYL AU NM_015030 exon12 c.28232+14delA 0.643371 0.7569 0.5220 0.5181 Uncertain 4_48529733_G->A 4 48529733 48529733 G A snp 911.77 1/1 66 30 0 30 1.0 intronic rs4695385 FRYL AU NM_015030 exon12 c.28232+63G>A 0.982628 1 Uncertain 4_48546153_T->C 4 48546153 48546153 T C snp 260.8 1/1 21 8 0 8 1.0 intronic rs7683398 FRYL AU NM_015030 exon21 c.44576+139T>C 0.528155 0.5288 Uncertain 4_48547041_A->C 4 48547041 48547041 A C snp 2258.77 1/1 99 67 0 67 1.0 intronic rs952289 FRYL AU NM_015030 exon22 c.45483+120A>C 0.530551 0.5288 Uncertain 4_48558882_C->T 4 48558882 48558882 C T snp 135.03 1/1 12 4 0 4 1.0 intronic rs4694898 FRYL AU NM_015030 exon30 c.57556-112C>T 0.987021 1 Uncertain 4_48565101_A->T 4 48565101 48565101 A T snp 563.77 1/1 42 16 0 16 1.0 intronic rs13138269 FRYL AU NM_015030 exon33 c.63567+96A>T 0.554712 0.5288 Uncertain 4_48577121_C->T 4 48577121 48577121 C T snp 5198.77 1/1 99 197 0 197 1.0 intronic rs28558226 FRYL AU NM_015030 exon40 c.75695-12C>T 0.982628 1 0.984159 0.9953 1 Uncertain 4_48582836_A->T 4 48582836 48582836 A T snp 3687.77 1/1 99 138 0 138 1.0 intronic rs4695390 FRYL AU NM_015030 exon43 c.81443-45A>T 0.987021 1 0.988802 0.9966 1 Uncertain 4_48584405_T->C 4 48584405 48584405 T C snp 460.77 1/1 36 13 0 13 1.0 intronic rs3107023 FRYL AU NM_015030 exon45 c.83075-108T>C 0.947284 0.9762 Uncertain 4_48588742_C->T 4 48588742 48588742 C T snp 3007.77 1/1 99 106 0 106 1.0 exonic rs34558821 FRYL AU synonymous SNV NM_015030 exon19 c.G1644A p.G548G 0.532548 0.5288 0.528348 0.4876 0.4710 Uncertain 4_48607569_C->T 4 48607569 48607569 C T snp 93.28 1/1 9 3 0 3 1.0 intronic rs1616561 FRYL AU NM_015030 exon54 c.106319-188C>T 0.983027 1 Uncertain 4_48607938_T->C 4 48607938 48607938 T C snp 431.77 1/1 33 11 0 11 1.0 intronic rs2940319 FRYL AU NM_015030 exon54 c.106412+88T>C 0.983027 1 Uncertain 4_48611149_A->G 4 48611149 48611149 A G snp 249.8 1/1 21 7 0 7 1.0 intronic rs2354348 FRYL AU NM_015030 exon56 c.109646+65A>G 0.559904 0.5298 Uncertain 4_48611153_A->T 4 48611153 48611153 A T snp 264.8 1/1 21 7 0 7 1.0 intronic rs776603 FRYL AU NM_015030 exon56 c.109646+69A>T 0.983227 1 Uncertain 4_48625213_C->A 4 48625213 48625213 C A snp 143.03 1/1 12 5 0 5 1.0 intronic rs776579 FRYL AU NM_015030 exon60 c.123758+17C>A 0.982628 1 0.983155 0.8399 0.8679 Uncertain 4_48655635_T->A 4 48655635 48655635 T A snp 1514.77 1/1 99 49 2 47 0.96 intronic rs776580 FRYL AU NM_015030 exon61 c.135069+19128T>A 0.998203 1 Uncertain 4_48655825_AGCAGC->- 4 48655825 48655830 AGCAGC - indel 1156.73 1/1 45 24 0 24 1.0 intronic rs141132438 FRYL AU NM_015030 exon61 c.135069+19318_135069+19323delAGCAGC 0.527756 0.5288 0.5382 0.5155 Uncertain 4_48851937_C->T 4 48851937 48851937 C T snp 2763.77 1/1 99 97 0 97 1.0 intronic rs3761729 OCIAD1 AU NM_001079840 exon6 c.17322-26C>T 0.520966 0.5149 0.526834 0.4834 0.4653 Uncertain 4_48993610_G->A 4 48993610 48993610 G A snp 827.77 0/1 99 84 43 41 0.49 intronic rs41265729 CWH43 AU NM_025087 exon3 c.5145+19G>A 0.0139776 0.0159 0.012994 0.0147 0.0168 Uncertain 4_49063872_C->A 4 49063872 49063872 C A snp 217.77 0/1 99 33 21 12 0.36 exonic rs1051447 CWH43 AU nonsynonymous SNV NM_001286791 exon16 c.C1984A p.H662N 0.476637 0.3681 0.564564 0.6524 0.3925 0.916 P -1.000 T 0.961 D 0.691 D Pathogenic 4_49064033_T->A 4 49064033 49064033 T A snp 62.77 0/1 91 18 13 5 0.28 UTR3 rs139717750 CWH43 AU 0.00599042 0.0288 Uncertain 4_52714354_-->TTTC 4 52714354 52714354 - TTTC indel 2750.73 0/1 99 89 44 45 0.51 intronic rs10673605 DCUN1D4 AU NM_001287755 exon1 c.157+4446insTTTC 0.522364 0.6359 0.3904 0.6136 Uncertain 4_52714511_C->G 4 52714511 52714511 C G snp 1241.77 0/1 99 108 54 54 0.5 UTR5 rs6851073 DCUN1D4 AU 0.522564 0.6359 Uncertain 4_52752812_A->T 4 52752812 52752812 A T snp 594.77 0/1 99 59 33 26 0.44 intronic rs2271046 DCUN1D4 AU NM_015115 exon6 c.43396+8A>T 0.545327 0.6369 0.439489 0.3646 0.6111 Uncertain 4_52753118_G->A 4 52753118 52753118 G A snp 77.77 0/1 99 7 4 3 0.43 intronic rs7665231 DCUN1D4 AU NM_015115 exon6 c.43396+314G>A 0.522165 0.6369 Uncertain 4_52765720_T->G 4 52765720 52765720 T G snp 529.77 0/1 99 31 14 17 0.55 intronic rs2271045 DCUN1D4 AU NM_015115 exon8 c.56136+176T>G 0.521565 0.628 Uncertain 4_52869276_T->C 4 52869276 52869276 T C snp 80.77 0/1 30 4 1 3 0.75 intronic rs141319647 LRRC66 AU NM_001024611 exon3 c.8844-112T>C 0.00259585 0.0129 Uncertain 4_52883526_C->T 4 52883526 52883526 C T snp 731.77 0/1 99 79 48 31 0.39 exonic rs200660752 LRRC66 AU stopgain NM_001024611 exon1 c.G254A p.W85X 0.000798722 0.004 0.0003 0.0046 1 T 1 A Pathogenic 4_52894998_C->T 4 52894998 52894998 C T snp 1092.77 0/1 99 82 28 54 0.66 exonic rs755701680 SGCB AR synonymous SNV NM_000232 exon4 c.G519A p.P173P 3.296e-05 0.0005 Uncertain 4_52896050_A->G 4 52896050 52896050 A G snp 631.77 0/1 99 44 20 24 0.55 intronic rs225170 SGCB AR NM_000232 exon4 c.5907+21A>G 0.355631 0.3373 0.434799 0.4936 0.3462 Uncertain 4_52927113_C->A 4 52927113 52927113 C A snp 688.77 0/1 99 59 34 25 0.42 intronic rs999634 SPATA18 AU NM_001297608 exon3 c.9193+50C>A 0.358027 0.3313 0.443018 0.4999 0.3550 Uncertain 4_52927229_A->G 4 52927229 52927229 A G snp 150.77 0/1 99 11 6 5 0.45 intronic rs784944 SPATA18 AU NM_001297608 exon3 c.9193+166A>G 0.480032 0.38 Uncertain 4_52938243_T->C 4 52938243 52938243 T C snp 752.77 0/1 99 76 41 35 0.46 exonic rs3860707 SPATA18 AU nonsynonymous SNV NM_001297608 exon5 c.T583C p.S195P 0.383387 0.3968 0.483469 0.5554 0.4024 0.29 T 0.0 P -1.012 T 0.378 T 0.192 T Pathogenic 4_52942779_G->T 4 52942779 52942779 G T snp 61.77 0/1 90 10 7 3 0.3 intronic rs55839120 SPATA18 AU NM_001297608 exon6 c.25074-165G>T 0.385982 0.3948 Uncertain 4_52942986_G->C 4 52942986 52942986 G C snp 1459.77 0/1 99 156 83 73 0.47 exonic rs139687172 SPATA18 AU nonsynonymous SNV NM_001297608 exon6 c.G704C p.R235P 0.0005 0.0062 0.19 T 1 N -1.013 T 0.958 D 0.519 D Pathogenic 4_52945207_G->A 4 52945207 52945207 G A snp 56.74 1/1 6 3 1 2 0.67 intronic rs12641673 SPATA18 AU NM_001297608 exon7 c.27189+148G>A 0.388778 0.3948 Uncertain 4_52945799_C->T 4 52945799 52945799 C T snp 1214.77 1/1 90 35 0 35 1.0 intronic rs7689145 SPATA18 AU NM_001297608 exon8 c.28039-110C>T 0.861621 1 Uncertain 4_52946161_A->G 4 52946161 52946161 A G snp 1316.77 1/1 96 39 0 39 1.0 intronic rs7657148 SPATA18 AU NM_001297608 exon8 c.28215+76A>G 0.836661 1 Uncertain 4_52946171_-->AA 4 52946171 52946171 - AA indel 437.73 0/1 99 27 15 12 0.44 intronic rs201585108 SPATA18 AU NM_001297608 exon8 c.28215+86insAA 0.00958466 0.0446 Uncertain 4_52946173_C->T 4 52946173 52946173 C T snp 209.77 0/1 99 20 13 7 0.35 intronic rs185962499 SPATA18 AU NM_001297608 exon8 c.28215+88C>T 0.00978435 0.0456 Uncertain 4_52946175_G->A 4 52946175 52946175 G A snp 200.77 0/1 99 19 12 7 0.37 intronic rs191257125 SPATA18 AU NM_001297608 exon8 c.28215+90G>A 0.00978435 0.0456 Uncertain 4_52951214_TT->- 4 52951214 52951215 TT - indel 283.27 0/1 1 25 1 24 0.96 intronic rs147423128 SPATA18 AU NM_001297608 exon10 c.33295+49_33295+50delTT 0.411941 0.5516 0.4521 0.5395 Uncertain 4_52960908_T->A 4 52960908 52960908 T A snp 1004.77 0/1 99 100 57 43 0.43 intronic rs3214049 SPATA18 AU NM_001297608 exon12 c.43175-137T>A 0.386581 0.3948 Uncertain 4_53773781_G->A 4 53773781 53773781 G A snp 1258.77 0/1 99 82 30 52 0.63 intronic rs149228347 SCFD2 AU NM_152540 exon3 c.33623+23G>A 0.00239617 0.0119 0.000077 0.0013 0.0179 Uncertain 4_53822307_A->G 4 53822307 53822307 A G snp 2805.77 0/1 99 231 102 129 0.56 intronic rs301093 SCFD2 AU NM_152540 exon4 c.46902+35270A>G 0.363818 0.3651 0.3614 0.395 Uncertain 4_54011424_C->T 4 54011424 54011424 C T snp 2282.77 1/1 99 70 0 70 1.0 intronic rs4864727 SCFD2 AU NM_152540 exon5 c.271364-75C>T 0.435503 0.4692 Uncertain 4_54243905_T->C 4 54243905 54243905 T C snp 431.77 1/1 33 11 0 11 1.0 UTR5 rs3811782 FIP1L1 AU 0.671725 0.6448 Uncertain 4_54245476_A->T 4 54245476 54245476 A T snp 141.03 1/1 12 4 0 4 1.0 intronic rs1471596 FIP1L1 AU NM_030917 exon3 c.1426+45A>T 0.972444 1 0.972244 0.9920 1 Uncertain 4_54248698_A->G 4 54248698 54248698 A G snp 141.03 1/1 12 4 0 4 1.0 intronic rs56998298 FIP1L1 AU NM_030917 exon4 c.4497+196A>G 0.457468 0.4722 Uncertain 4_54250189_T->G 4 54250189 54250189 T G snp 439.77 1/1 33 14 0 14 1.0 intronic rs10012853 FIP1L1 AU NM_030917 exon5 c.6038+146T>G 0.784345 0.7788 Uncertain 4_54256167_G->A 4 54256167 54256167 G A snp 381.77 1/1 30 12 0 12 1.0 intronic rs9994692 FIP1L1 AU NM_030917 exon6 c.12035+127G>A 0.120208 0.1607 Uncertain 4_54280706_A->- 4 54280706 54280706 A - indel 152.74 1/1 26 9 0 9 1.0 intronic rs10719406 FIP1L1 AU NM_030917 exon11 c.36776-75delA Uncertain 4_54310058_C->A 4 54310058 54310058 C A snp 86.28 1/1 9 3 0 3 1.0 intronic rs28459503 FIP1L1 AU NM_030917 exon15 c.66209-156C>A 0.459665 0.4722 Uncertain 4_54310188_A->G 4 54310188 54310188 A G snp 1188.77 1/1 87 49 0 49 1.0 intronic rs11722866 FIP1L1 AU NM_030917 exon15 c.66209-26A>G 0.457668 0.4722 0.563442 0.5900 0.4402 Uncertain 4_54310281_T->G 4 54310281 54310281 T G snp 1497.77 1/1 99 54 0 54 1.0 intronic rs11723755 FIP1L1 AU NM_030917 exon15 c.66265+11T>G 0.466653 0.4722 0.571374 0.5921 0.4401 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000155542.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 4_54310341_A->- 4 54310341 54310341 A - indel 1116.73 1/1 90 31 0 31 1.0 intronic rs59279367 FIP1L1 AU NM_030917 exon15 c.66265+71delA 0.457468 0.4722 0.562890 Uncertain 4_54327235_T->C 4 54327235 54327235 T C snp 1100.77 1/1 81 33 0 33 1.0 intronic rs3811785 LNX1 AU NM_032622 exon1 c.136+26T>C 0.456869 0.4722 0.564195 0.5976 0.4498 Uncertain 4_54327584_A->G 4 54327584 54327584 A G snp 1975.77 1/1 99 72 1 71 0.99 intronic rs3765158 LNX1 AU NM_032622 exon2 c.528-17A>G 0.683706 0.6458 0.702476 0.7009 0.6157 Uncertain 4_54373464_C->T 4 54373464 54373464 C T snp 2099.77 1/1 99 75 0 75 1.0 ncRNA_intronic rs10021772 LNX1-AS1 AU 0.482029 0.5208 0.370906 0.4010 0.4850 Uncertain 4_54374510_TGATTTGCC->- 4 54374510 54374518 TGATTTGCC - indel 1531.73 1/1 39 21 0 21 1.0 ncRNA_intronic rs147324591 LNX1-AS1 AU 0.0177716 0.0843 Uncertain 4_54930270_AG->- 4 54930270 54930271 AG - indel 1033.73 1/1 60 20 0 20 1.0 intronic rs139920029 CHIC2 AD NM_012110 exon6 c.54087-78_54087-77delAG 0.366414 0.6964 Uncertain 4_54966667_C->T 4 54966667 54966667 C T snp 6684.77 1/1 99 240 2 238 0.99 exonic rs3194383 GSX2 AU synonymous SNV NM_133267 exon1 c.C156T p.S52S 0.60024 0.8423 0.521000 0.6340 0.8365 Uncertain 4_54966830_G->A 4 54966830 54966830 G A snp 1755.77 1/1 99 65 1 64 0.98 exonic rs13144341 GSX2 AU nonsynonymous SNV NM_133267 exon1 c.G319A p.G107S 0.994209 1 0.994974 0.9974 1 1 T 0.000 P -0.930 T 0.0 T 0.0 T Pathogenic 4_54966919_T->C 4 54966919 54966919 T C snp 2521.77 1/1 99 88 0 88 1.0 exonic rs1132998 GSX2 AU synonymous SNV NM_133267 exon1 c.T408C p.H136H 0.60004 0.8423 0.581565 0.5985 0.8538 Uncertain 4_54967214_C->T 4 54967214 54967214 C T snp 347.78 1/1 27 12 0 12 1.0 intronic rs6554148 GSX2 AU NM_133267 exon1 c.574+129C>T 0.778754 0.9117 Uncertain 4_54967709_C->A 4 54967709 54967709 C A snp 1633.77 1/1 99 58 0 58 1.0 intronic rs2278142 GSX2 AU NM_133267 exon2 c.1237-39C>A 0.599641 0.8423 0.523227 0.6389 0.8373 Uncertain 4_55125058_A->T 4 55125058 55125058 A T snp 2022.77 1/1 99 67 0 67 1.0 intronic rs2303430 PDGFRA AU,AO NM_006206 exon2 c.49+74A>T 0.254792 0.4861 0.220105 Uncertain 4_55139978_T->C 4 55139978 55139978 T C snp 129.03 1/1 12 4 0 4 1.0 intronic rs1492765 PDGFRA AU,AO NM_006206 exon10 c.14962+81T>C 0.955072 1 Uncertain 4_55141055_A->G 4 55141055 55141055 A G snp 5612.77 1/1 99 203 0 203 1.0 exonic rs1873778 PDGFRA AU,AO synonymous SNV NM_006206 exon12 c.A1701G p.P567P 0.957668 1 0.958865 0.9880 1 ID=COSM1430082;OCCURENCE=1(large_intestine) Uncertain 4_55144447_T->C 4 55144447 55144447 T C snp 334.78 1/1 27 10 0 10 1.0 intronic rs1907820 PDGFRA AU,AO NM_006206 exon15 c.19593-81T>C 0.952875 0.9921 Uncertain 4_55145258_G->A 4 55145258 55145258 G A snp 93.28 1/1 9 3 0 3 1.0 intronic rs2412556 PDGFRA AU,AO NM_006206 exon15 c.19747+576G>A 0.70028 0.8224 Uncertain 4_55151711_C->A 4 55151711 55151711 C A snp 4391.77 1/1 99 157 0 157 1.0 intronic rs2412559 PDGFRA AU,AO NM_006206 exon17 c.26718+58C>A 0.955871 1 Uncertain 4_55151958_-->A 4 55151958 55151958 - A indel 1098.73 1/1 75 25 0 25 1.0 intronic rs3830355 PDGFRA AU,AO NM_006206 exon18 c.27072-49insA 0.713858 0.8224 0.749800 0.8039 0.8471 Uncertain 4_55152284_T->G 4 55152284 55152284 T G snp 354.78 1/1 27 11 0 11 1.0 intronic rs4864872 PDGFRA AU,AO NM_006206 exon18 c.27195+154T>G 0.714856 0.8274 Uncertain 4_55153837_A->G 4 55153837 55153837 A G snp 1941.77 1/1 99 62 0 62 1.0 intronic rs7695657 PDGFRA AU,AO NM_006206 exon19 c.28773+129A>G 0.95627 1 Uncertain 4_55153921_T->C 4 55153921 55153921 T C snp 380.77 1/1 30 10 0 10 1.0 intronic rs7654385 PDGFRA AU,AO NM_006206 exon19 c.28773+213T>C 0.997204 1 Uncertain 4_55156380_G->A 4 55156380 55156380 G A snp 1392.77 1/1 99 41 0 41 1.0 intronic rs4864506 PDGFRA AU,AO NM_006206 exon22 c.31544-99G>A 0.95627 1 Uncertain 4_55156400_A->G 4 55156400 55156400 A G snp 2270.77 1/1 99 74 0 74 1.0 intronic rs2276948 PDGFRA AU,AO NM_006206 exon22 c.31544-79A>G 0.70028 0.8274 Uncertain 4_55161254_C->T 4 55161254 55161254 C T snp 1455.77 1/1 99 58 0 58 1.0 intronic rs3733540 PDGFRA AU,AO NM_006206 exon23 c.36356-37C>T 0.699081 0.8274 0.735814 0.8021 0.8566 Uncertain 4_55161391_T->C 4 55161391 55161391 T C snp 1993.77 1/1 99 78 0 78 1.0 exonic rs7685117 PDGFRA AU,AO synonymous SNV NM_006206 exon23 c.T3222C p.D1074D 0.997204 1 0.996771 0.9990 0.9999 Uncertain 4_55161517_A->G 4 55161517 55161517 A G snp 212.84 1/1 18 6 0 6 1.0 UTR3 rs7680422 PDGFRA AU,AO 0.997005 1 Uncertain 4_55599436_T->C 4 55599436 55599436 T C snp 2172.77 1/1 99 64 0 64 1.0 intronic rs1008658 KIT AD,AO NM_000222 exon17 c.75177+78T>C 0.504792 0.6875 Uncertain 4_55946081_A->G 4 55946081 55946081 A G snp 965.77 1/1 69 34 0 34 1.0 UTR3 rs4421048 KDR AU,AD 0.992812 1 0.992004 0.9968 1 Uncertain 4_55948108_A->G 4 55948108 55948108 A G snp 2452.77 1/1 99 81 0 81 1.0 intronic rs2412617 KDR AU,AD NM_002253 exon2 c.2015-14A>G 0.996805 1 0.997616 0.9986 1 Uncertain 4_55955232_T->C 4 55955232 55955232 T C snp 1443.77 0/1 99 84 31 53 0.63 intronic rs1531289 KDR AU,AD NM_002253 exon5 c.9033+92T>C 0.679113 0.7966 Uncertain 4_55968053_A->C 4 55968053 55968053 A C snp 976.77 0/1 99 117 64 53 0.45 intronic rs7655964 KDR AU,AD NM_002253 exon16 c.21956-10A>C 0.292931 0.3135 0.282562 0.3475 0.3196 ID=CR116625;DIS=Increased mRNA levels;TAG=FP;PUB=21712447 FP Uncertain 4_55970680_G->A 4 55970680 55970680 G A snp 948.77 0/1 99 92 56 36 0.39 intronic rs13109660 KDR AU,AD NM_002253 exon18 c.24702-129G>A 0.291334 0.3135 Uncertain 4_55980239_C->T 4 55980239 55980239 C T snp 3043.77 1/1 99 108 0 108 1.0 intronic rs7692791 KDR AU,AD NM_002253 exon25 c.34185-53C>T 0.544129 0.63 Uncertain 4_55981683_G->T 4 55981683 55981683 G T snp 80.77 0/1 69 5 2 3 0.6 intronic rs41477053 KDR AU,AD NM_002253 exon27 c.35471+105G>T 0.253594 0.4256 Uncertain 4_55991138_T->C 4 55991138 55991138 T C snp 344.78 1/1 27 9 0 9 1.0 intronic rs7666097 KDR AU,AD NM_002253 exon30 c.45286-255T>C 0.993011 1 Uncertain 4_56262374_A->G 4 56262374 56262374 A G snp 1529.77 0/1 99 123 57 66 0.54 exonic rs1128141 TMEM165 AR synonymous SNV NM_018475 exon1 c.A18G p.P6P 0.755192 0.6776 0.7721 0.6798 Uncertain 4_56290496_C->T 4 56290496 56290496 C T snp 467.77 1/1 36 12 0 12 1.0 intronic rs6828454 TMEM165 AR NM_018475 exon5 c.28348-208C>T 0.522764 0.879 Uncertain 4_56290558_C->T 4 56290558 56290558 C T snp 2611.77 1/1 99 80 0 80 1.0 intronic rs11732723 TMEM165 AR NM_018475 exon5 c.28348-146C>T 0.522564 0.879 Uncertain 4_56290573_T->C 4 56290573 56290573 T C snp 3181.78 1/1 99 102 2 100 0.98 intronic rs6810483 TMEM165 AR NM_018475 exon5 c.28348-131T>C 0.501198 0.878 Uncertain 4_56291479_C->T 4 56291479 56291479 C T snp 1344.77 0/1 99 147 86 61 0.41 intronic rs7677952 TMEM165 AR NM_018475 exon6 c.29186-63C>T 0.376997 0.5724 Uncertain 4_56291528_T->C 4 56291528 56291528 T C snp 1688.77 0/1 99 179 101 78 0.44 intronic rs7660517 TMEM165 AR NM_018475 exon6 c.29186-14T>C 0.377196 0.5734 0.294755 0.3998 0.6016 Uncertain 4_56291621_AA->- 4 56291621 56291622 AA - indel 2019.73 0/1 99 124 73 51 0.41 UTR3 rs35154686 TMEM165 AR 0.355431 0.5714 0.263179 0.3641 0.6007 Uncertain 4_56309992_A->G 4 56309992 56309992 A G snp 1202.77 0/1 99 98 50 48 0.49 exonic rs3736544 CLOCK AU synonymous SNV NM_004898 exon20 c.T1764C p.N588N 0.723043 0.6736 0.658696 0.6958 0.6889 Uncertain 4_56314761_A->G 4 56314761 56314761 A G snp 101.77 0/1 64 6 2 4 0.67 intronic rs4864991 CLOCK AU NM_004898 exon6 c.13364-184A>G 0.234425 0.3601 Uncertain 4_56322245_G->- 4 56322245 56322245 G - indel 89.73 0/1 75 11 4 7 0.64 intronic rs10529254 CLOCK AU NM_004898 exon11 c.20589+75delG 0.719449 0.6667 Uncertain 4_56329773_T->C 4 56329773 56329773 T C snp 315.77 0/1 99 43 27 16 0.37 intronic rs1522112 CLOCK AU NM_004898 exon15 c.28270-78T>C 0.376997 0.5724 Uncertain 4_56342326_G->A 4 56342326 56342326 G A snp 1206.77 0/1 99 61 16 45 0.74 intronic rs9312661 CLOCK AU NM_004898 exon17 c.40640+105G>A 0.376797 0.5714 Uncertain 4_56428820_C->T 4 56428820 56428820 C T snp 118.77 0/1 99 13 7 6 0.46 intronic rs2279458 PDCL2 AU NM_152401 exon2 c.6056+41C>T 0.376797 0.5714 0.304555 0.4163 0.6105 Uncertain 4_56435849_T->C 4 56435849 56435849 T C snp 56.74 1/1 6 2 0 2 1.0 intronic rs28445925 PDCL2 AU NM_152401 exon3 c.13161-35T>C 0.270168 0.3274 0.339330 0.3297 0.3636 Uncertain 4_56465418_T->C 4 56465418 56465418 T C snp 1224.77 1/1 87 46 0 46 1.0 intronic rs1387198 NMU AU NM_001292045 exon2 c.36+70T>C 0.968051 1 0.969093 Uncertain 4_56471551_A->G 4 56471551 56471551 A G snp 1804.77 0/1 99 197 121 76 0.39 intronic rs3805382 NMU AU NM_001292045 exon4 c.6204+35A>G 0.340056 0.5804 0.260188 0.3478 0.6124 Uncertain 4_56502307_G->T 4 56502307 56502307 G T snp 183.77 0/1 99 21 10 11 0.52 exonic rs3828555 NMU AU nonsynonymous SNV NM_006681 exon1 c.C53A p.A18E 0.145767 0.3343 0.033225 0.1240 0.3929 0.03 T 0.0 P -0.996 T 0.649 T 0.239 P Pathogenic 4_56734701_C->T 4 56734701 56734701 C T snp 3845.77 1/1 99 138 0 138 1.0 intronic rs3213948 EXOC1 AU NM_018261 exon5 c.10200+12C>T 0.544329 0.6756 0.551515 0.5610 0.6699 Uncertain 4_56737489_G->A 4 56737489 56737489 G A snp 2398.77 1/1 99 81 0 81 1.0 intronic rs73238378 EXOC1 AU NM_018261 exon7 c.12910+90G>A 0.222843 0.5169 Uncertain 4_56756531_T->C 4 56756531 56756531 T C snp 4995.77 1/1 99 183 1 182 0.99 exonic rs2290016 EXOC1 AU synonymous SNV NM_178237 exon11 c.T1473C p.A491A 0.325879 0.5278 0.287175 0.2947 0.5014 Uncertain 4_56763170_A->G 4 56763170 56763170 A G snp 244.8 1/1 21 8 0 8 1.0 intronic rs10014018 EXOC1 AU NM_018261 exon16 c.38577+104A>G 0.823682 0.9772 Uncertain 4_57167325_T->- 4 57167325 57167325 T - indel 684.73 1/1 74 26 0 26 1.0 intronic rs398083093 KIAA1211 AU NM_020722 exon4 c.120+2810delT 0.302915 0.6161 Uncertain 4_57167507_C->G 4 57167507 57167507 C G snp 4315.77 1/1 99 165 0 165 1.0 intronic rs58767323 KIAA1211 AU NM_020722 exon4 c.120+2992C>G 0.287939 0.6151 Uncertain 4_57176722_A->G 4 57176722 57176722 A G snp 177.77 0/1 99 14 8 6 0.43 intronic rs60688876 KIAA1211 AU NM_020722 exon6 c.12436-109A>G 0.110623 0.2609 Uncertain 4_57176965_T->C 4 57176965 57176965 T C snp 714.77 0/1 99 68 29 39 0.57 intronic rs5858374 KIAA1211 AU NM_020722 exon6 c.12505+65T>C Uncertain 4_57179571_C->G 4 57179571 57179571 C G snp 300.77 0/1 99 21 9 12 0.57 intronic rs78147125 KIAA1211 AU NM_020722 exon7 c.15150+26C>G 0.0930511 0.255 0.045270 0.0858 0.2669 Uncertain 4_57179649_A->T 4 57179649 57179649 A T snp 46.77 0/1 33 3 1 2 0.67 intronic rs6554344 KIAA1211 AU NM_020722 exon7 c.15150+104A>T 0.821486 0.8284 Uncertain 4_57181632_G->C 4 57181632 57181632 G C snp 5188.77 1/1 99 176 0 176 1.0 exonic rs7672073 KIAA1211 AU nonsynonymous SNV NM_020722 exon8 c.G1964C p.R655P 0.987021 1 0.983689 0.9957 0.9998 0.74 T 0.0 P -1.018 T 0.001 T 0.0 T Pathogenic 4_57182990_C->G 4 57182990 57182990 C G snp 96.28 1/1 9 3 0 3 1.0 intronic rs77070058 KIAA1211 AU NM_020722 exon8 c.18460+135C>G 0.10603 0.251 Uncertain 4_57189498_G->A 4 57189498 57189498 G A snp 1457.77 1/1 99 59 0 59 1.0 intronic rs2292985 KIAA1211 AU NM_020722 exon9 c.25147-44G>A 0.550519 0.5327 0.549984 0.6130 0.5269 Uncertain 4_57190242_T->C 4 57190242 57190242 T C snp 252.77 0/1 99 24 14 10 0.42 intronic rs2292983 KIAA1211 AU NM_020722 exon10 c.25874-27T>C 0.21845 0.4325 0.117056 0.1499 0.4442 Uncertain 4_57193762_G->A 4 57193762 57193762 G A snp 179.9 1/1 15 6 0 6 1.0 intronic rs6826795 KIAA1211 AU NM_020722 exon11 c.29414-47G>A 0.729233 0.7222 0.666298 0.7050 0.7200 Uncertain 4_57194329_G->T 4 57194329 57194329 G T snp 771.77 1/1 57 23 0 23 1.0 UTR3 rs11733474 KIAA1211 AU 0.709265 0.7183 Uncertain 4_57194441_G->C 4 57194441 57194441 G C snp 2908.77 0/1 99 193 76 117 0.61 UTR3 rs41498446 KIAA1211 AU 0.103435 0.2381 Uncertain 4_57194525_C->G 4 57194525 57194525 C G snp 2626.77 0/1 99 250 139 111 0.44 UTR3 rs6834736 KIAA1211 AU 0.538538 0.2867 0.570283 0.5503 0.2731 Uncertain 4_57204777_A->C 4 57204777 57204777 A C snp 3394.77 0/1 99 249 115 134 0.54 exonic rs8340 AASDH AU nonsynonymous SNV NM_001286670 exon12 c.T1633G p.Y545D 0.225639 0.2153 0.157312 0.1762 0.1997 0.31 T 0.0 P -0.920 T 0.0 T 0.0 T Pathogenic 4_57204960_A->G 4 57204960 57204960 A G snp 1096.77 0/1 99 99 55 44 0.44 splicing rs3733324 AASDH AU NM_001286669 exon1 c.390+3A>G 0.10623 0.2431 0.058737 0.0987 0.2753 Pathogenic 4_57208955_A->T 4 57208955 57208955 A T snp 49.77 0/1 36 5 2 3 0.6 intronic rs9996468 AASDH AU NM_001286669 exon2 c.4433-45A>T 0.501997 0.381 0.5480 0.3333 Uncertain 4_57211352_T->C 4 57211352 57211352 T C snp 2663.77 0/1 99 188 75 113 0.6 exonic rs12498340 AASDH AU nonsynonymous SNV NM_001286670 exon9 c.A1138G p.T380A 0.219848 0.2173 0.149008 0.1744 0.1990 0.16 T 1.000 P -0.999 T 0.202 T 0.171 T Pathogenic 4_57211532_A->G 4 57211532 57211532 A G snp 187.77 0/1 94 10 3 7 0.7 intronic rs7696808 AASDH AU NM_001286669 exon4 c.6889+76A>G 0.157947 0.1498 Uncertain 4_57219523_A->G 4 57219523 57219523 A G snp 277.77 0/1 94 15 4 11 0.73 intronic rs6554347 AASDH AU NM_001286669 exon7 c.15002-46A>G 0.397165 0.3075 0.451176 0.4598 0.3247 Uncertain 4_57219592_G->A 4 57219592 57219592 G A snp 1065.77 1/1 75 41 0 41 1.0 exonic rs6554348 AASDH AU synonymous SNV NM_001286670 exon6 c.C99T p.D33D 0.645767 0.5268 0.628479 0.6380 0.5212 Uncertain 4_57219613_C->T 4 57219613 57219613 C T snp 446.77 0/1 99 50 31 19 0.38 exonic rs17086696 AASDH AU synonymous SNV NM_001286670 exon6 c.G78A p.P26P 0.227236 0.2192 0.157312 0.1762 0.1994 Uncertain 4_57248591_A->G 4 57248591 57248591 A G snp 83.77 0/1 69 5 2 3 0.6 intronic rs12645138 AASDH AU NM_001286671 exon10 c.43771-51A>G 0.105831 0.1468 0.072635 0.1827 0.3167 Uncertain 4_57261372_-->A 4 57261372 57261372 - A indel 131.73 0/1 47 11 3 8 0.73 UTR3 rs34605681 PPAT AU 0.404153 0.5635 Uncertain 4_57267124_A->T 4 57267124 57267124 A T snp 1471.77 0/1 99 130 68 62 0.48 intronic rs2271925 PPAT AU NM_002703 exon4 c.5560+47A>T 0.161342 0.1488 0.121713 0.1448 0.1452 Uncertain 4_57268328_T->C 4 57268328 57268328 T C snp 473.77 0/1 99 58 38 20 0.34 exonic rs2271924 PPAT AU synonymous SNV NM_002703 exon6 c.A681G p.T227T 0.125599 0.2381 0.079923 0.0997 0.2480 Uncertain 4_57269579_A->T 4 57269579 57269579 A T snp 881.77 0/1 99 88 47 41 0.47 intronic rs56066795 PPAT AU NM_002703 exon8 c.8050+12A>T 0.161342 0.1488 0.121252 0.1526 0.1540 Uncertain 4_57269646_-->AAAG 4 57269646 57269646 - AAAG indel 1969.73 0/1 40 37 2 35 0.95 intronic rs112538106 PPAT AU NM_002703 exon8 c.8050+79insAAAG 0.719649 0.7192 Uncertain 4_57270197_T->C 4 57270197 57270197 T C snp 823.77 1/1 60 28 0 28 1.0 intronic rs7661712 PPAT AU NM_002703 exon8 c.8050+630T>C 0.735623 0.7222 0.7268 0.7652 Uncertain 4_57276619_G->C 4 57276619 57276619 G C snp 139.03 1/1 12 4 0 4 1.0 intronic rs2139512 PPAT AU NM_002703 exon10 c.12365+2737G>C 0.734026 0.7222 Uncertain 4_57276739_G->C 4 57276739 57276739 G C snp 301.77 0/1 99 34 18 16 0.47 intronic rs2176785 PPAT AU NM_002703 exon10 c.12365+2857G>C 0.384984 0.3085 0.8333 . Uncertain 4_57277073_A->T 4 57277073 57277073 A T snp 88.28 1/1 9 3 0 3 1.0 intronic PPAT AU NM_002703 exon10 c.12365+3191A>T Uncertain 4_57312387_T->C 4 57312387 57312387 T C snp 1546.77 1/1 99 52 0 52 1.0 intronic rs6816268 PAICS AU NM_001079525 exon3 c.10044-135T>C 0.395567 0.4792 Uncertain 4_57312435_TG->- 4 57312435 57312436 TG - indel 1409.73 0/1 99 93 58 35 0.38 intronic rs375526419 PAICS AU NM_001079525 exon3 c.10044-87_10044-86delTG 0.115815 0.252 0.065034 Uncertain 4_57325476_A->G 4 57325476 57325476 A G snp 1636.77 1/1 99 58 0 58 1.0 intronic rs58975286 PAICS AU NM_006452 exon10 c.23059-61A>G 0.463259 0.6657 Uncertain 4_57333822_G->T 4 57333822 57333822 G T snp 2053.77 0/1 99 192 107 85 0.44 exonic rs12513091 SRP72 AD synonymous SNV NM_006947 exon1 c.G21T p.G7G 0.230831 0.2282 0.158713 0.2399 0.2108 Uncertain 4_57336054_-->T 4 57336054 57336054 - T indel 604.73 1/1 60 26 0 26 1.0 intronic rs142017318 SRP72 AD NM_006947 exon2 c.2138+115insT 0.4998 0.6657 Uncertain 4_57338188_A->G 4 57338188 57338188 A G snp 463.77 0/1 99 42 27 15 0.36 intronic rs4340842 SRP72 AD NM_006947 exon3 c.4208+179A>G 0.228634 0.2252 Uncertain 4_57340109_T->C 4 57340109 57340109 T C snp 1146.77 1/1 84 37 0 37 1.0 intronic rs4615235 SRP72 AD NM_006947 exon4 c.6418-110T>C 0.403554 0.4762 Uncertain 4_57340592_C->T 4 57340592 57340592 C T snp 219.84 1/1 18 7 0 7 1.0 intronic rs11610 SRP72 AD NM_006947 exon5 c.6756+35C>T 0.402556 0.4762 0.303398 0.3559 0.4897 Uncertain 4_57344779_A->G 4 57344779 57344779 A G snp 872.77 0/1 99 60 22 38 0.63 exonic rs77935196 SRP72 AD synonymous SNV NM_006947 exon8 c.A789G p.L263L 0.00279553 0.0139 0.000077 0.0011 0.0145 Uncertain 4_57351089_T->C 4 57351089 57351089 T C snp 324.77 0/1 99 26 10 16 0.62 intronic rs11934636 SRP72 AD NM_006947 exon10 c.17229+59T>C 0.171725 0.251 Uncertain 4_57355372_C->T 4 57355372 57355372 C T snp 72.28 1/1 9 3 0 3 1.0 intronic rs17086868 SRP72 AD NM_006947 exon13 c.21752-181C>T 0.116414 0.251 Uncertain 4_57356397_C->G 4 57356397 57356397 C G snp 42.78 0/1 27 3 1 2 0.67 intronic rs12643996 SRP72 AD NM_006947 exon14 c.22697-101C>G 0.171925 0.251 Uncertain 4_57356972_C->T 4 57356972 57356972 C T snp 1994.77 1/1 99 57 0 57 1.0 intronic rs17086883 SRP72 AD NM_006947 exon15 c.23010+161C>T 0.399561 0.4762 Uncertain 4_57357822_A->G 4 57357822 57357822 A G snp 593.77 0/1 99 48 24 24 0.5 intronic rs17086898 SRP72 AD NM_006947 exon16 c.23933+88A>G 0.171925 0.251 Uncertain 4_57361553_A->G 4 57361553 57361553 A G snp 368.77 0/1 99 29 10 19 0.66 exonic rs34419325 SRP72 AD synonymous SNV NM_006947 exon17 c.A1671G p.K557K 0.116414 0.251 0.064740 0.1229 0.2936 Uncertain 4_57361627_A->C 4 57361627 57361627 A C snp 239.77 0/1 57 14 3 11 0.79 intronic rs11934479 SRP72 AD NM_006947 exon17 c.27759+67A>C 0.171725 0.251 0.112567 Uncertain 4_57367805_C->T 4 57367805 57367805 C T snp 770.77 0/1 99 65 28 37 0.57 intronic rs17086912 SRP72 AD NM_006947 exon19 c.34048-44C>T 0.0175719 0.0873 0.000154 0.0055 0.0749 Uncertain 4_57368200_T->C 4 57368200 57368200 T C snp 459.77 0/1 99 29 12 17 0.59 UTR3 rs10051 SRP72 AD 0.227636 0.2252 Uncertain 4_57371391_A->T 4 57371391 57371391 A T snp 121.77 0/1 99 8 3 5 0.63 UTR5 rs17086919 ARL9 AU 0.172125 0.252 Uncertain 4_57371832_C->T 4 57371832 57371832 C T snp 38.77 0/1 67 5 3 2 0.4 intronic rs74987292 ARL9 AU 0.00299521 0.0149 Uncertain 4_57371848_T->C 4 57371848 57371848 T C snp 80.78 0/1 24 4 1 3 0.75 intronic rs75898438 ARL9 AU 0.117812 0.251 Uncertain 4_57384689_G->A 4 57384689 57384689 G A snp 110.77 0/1 99 10 6 4 0.4 intronic rs78147324 ARL9 AU NM_206919 exon3 c.7346-154G>A 0.112021 0.2391 Uncertain 4_57396755_C->A 4 57396755 57396755 C A snp 190.77 0/1 50 9 3 6 0.67 upstream rs28561081 THEGL AU 0.251597 0.1558 Uncertain 4_57397050_A->C 4 57397050 57397050 A C snp 2052.77 0/1 99 224 133 91 0.41 exonic rs28550555 THEGL AU synonymous SNV NM_001256475 exon1 c.A208C p.R70R 0.428315 0.4107 0.3068 0.4470 Uncertain 4_57397082_T->C 4 57397082 57397082 T C snp 2133.77 0/1 99 209 114 95 0.45 exonic rs28470886 THEGL AU synonymous SNV NM_001256475 exon1 c.T240C p.H80H 0.440296 0.4107 0.3077 0.4658 Uncertain 4_57397196_C->G 4 57397196 57397196 C G snp 1580.77 0/1 99 108 44 64 0.59 exonic rs28565512 THEGL AU synonymous SNV NM_001256475 exon1 c.C354G p.P118P 0.263978 0.1597 0.2046 0.2042 Uncertain 4_57425443_G->A 4 57425443 57425443 G A snp 172.9 1/1 15 5 0 5 1.0 intronic rs7677956 THEGL AU NM_001256475 exon4 c.28715-114G>A 0.659145 0.5833 Uncertain 4_57425520_-->T 4 57425520 57425520 - T indel 1573.73 1/1 99 66 1 65 0.98 intronic rs398107336 THEGL AU NM_001256475 exon4 c.28715-37insT 0.0133786 0.0149 0.8466 0.6279 Uncertain 4_57458942_C->G 4 57458942 57458942 C G snp 44.77 0/1 33 3 1 2 0.67 intronic rs6858341 THEGL AU NM_001256475 exon7 c.65823-3723C>G 0.73722 0.6756 Uncertain 4_57686821_T->A 4 57686821 57686821 T A snp 34.77 0/1 63 12 8 4 0.33 intronic rs3733303 SPINK2 AU NM_001271718 exon3 c.10441+76T>A 0.348842 0.3433 0.012046 Uncertain 4_57687849_C->G 4 57687849 57687849 C G snp 594.77 0/1 99 48 23 25 0.52 UTR5 rs114591157 SPINK2 AU 0.263179 0.3423 0.105611 0.2456 0.3654 Uncertain 4_57687851_T->A 4 57687851 57687851 T A snp 623.77 0/1 99 46 21 25 0.54 UTR5 rs115163565 SPINK2 AU 0.263179 0.3423 0.104688 0.2440 0.3627 Uncertain 4_57830501_G->A 4 57830501 57830501 G A snp 1220.77 1/1 90 41 0 41 1.0 intronic rs9996331 NOA1 AU NM_032313 exon2 c.956-70G>A 0.619209 0.7599 Uncertain 4_57839280_A->T 4 57839280 57839280 A T snp 557.77 0/1 99 34 14 20 0.59 intronic rs57265257 NOA1 AU NM_032313 exon5 c.9698-33A>T 0.239417 0.381 0.191941 0.2199 0.4161 Uncertain 4_57843320_A->G 4 57843320 57843320 A G snp 1816.77 1/1 99 63 0 63 1.0 exonic rs4865167 NOA1 AU synonymous SNV NM_032313 exon1 c.T432C p.C144C 0.9998 1 0.9999 0.9994 Uncertain 4_57843863_G->C 4 57843863 57843863 G C snp 117.78 0/1 27 5 1 4 0.8 upstream rs1713997 NOA1 AU 0.399161 0.4931 Uncertain 4_57845217_G->T 4 57845217 57845217 G T snp 517.77 0/1 99 56 33 23 0.41 intronic rs2276897 POLR2B AU NM_000938 exon1 c.19+47G>T 0.125998 0.2778 0.010072 0.0604 0.2405 Uncertain 4_57857188_A->G 4 57857188 57857188 A G snp 369.77 0/1 99 26 12 14 0.54 intronic rs3733309 POLR2B AU NM_000938 exon3 c.11913+124A>G 0.189696 0.376 Uncertain 4_57861358_C->T 4 57861358 57861358 C T snp 300.77 0/1 99 15 6 9 0.6 intronic rs2293175 POLR2B AU NM_000938 exon6 c.16265-58C>T 0.480232 0.502 Uncertain 4_57871748_-->TT 4 57871748 57871748 - TT indel 354.73 1/1 28 15 0 15 1.0 intronic rs11406328 POLR2B AU NM_000938 exon9 c.26614-17insTT 0.169928 0.3294 0.1390 0.3239 Uncertain 4_57876955_G->A 4 57876955 57876955 G A snp 209.77 0/1 99 27 19 8 0.3 exonic rs1718878 POLR2B AU synonymous SNV NM_001303268 exon11 c.G1365A p.A455A 0.386781 0.2986 0.370328 0.3587 0.2645 Uncertain 4_57881715_G->A 4 57881715 57881715 G A snp 1660.77 0/1 99 124 49 75 0.6 exonic rs1713982 POLR2B AU synonymous SNV NM_001303268 exon13 c.G1623A p.T541T 0.386182 0.2986 0.370675 0.3588 0.2646 Uncertain 4_57883175_G->C 4 57883175 57883175 G C snp 1211.77 1/1 87 46 0 46 1.0 intronic rs1718866 POLR2B AU NM_000938 exon15 c.38057-33G>C 0.924321 0.9762 0.883403 0.8969 0.9742 Uncertain 4_57886946_T->G 4 57886946 57886946 T G snp 420.77 0/1 99 31 16 15 0.48 intronic rs1718831 POLR2B AU NM_000938 exon17 c.41913-118T>G 0.387979 0.2986 Uncertain 4_57888510_T->C 4 57888510 57888510 T C snp 715.77 0/1 99 90 58 32 0.36 intronic rs1718830 POLR2B AU NM_000938 exon18 c.43261+98T>C 0.388179 0.2996 Uncertain 4_57889332_G->A 4 57889332 57889332 G A snp 518.77 1/1 42 15 0 15 1.0 intronic rs1718862 POLR2B AU NM_000938 exon19 c.44344-163G>A 0.924521 0.9762 Uncertain 4_57889677_C->T 4 57889677 57889677 C T snp 1957.77 0/1 99 146 68 78 0.53 exonic rs1056364 POLR2B AU synonymous SNV NM_001303268 exon18 c.C2472T p.S824S 0.551917 0.6786 0.545056 0.5720 0.7108 Uncertain 4_57890358_G->- 4 57890358 57890358 G - indel 1057.73 0/1 99 64 31 33 0.52 intronic rs59084791 POLR2B AU NM_000938 exon21 c.45127+80delG 0.124201 0.2788 Uncertain 4_57891239_G->A 4 57891239 57891239 G A snp 108.77 0/1 99 12 8 4 0.33 intronic rs6843644 POLR2B AU NM_000938 exon22 c.46014+74G>A 0.370208 0.2986 Uncertain 4_57897570_G->T 4 57897570 57897570 G T snp 346.77 0/1 99 20 7 13 0.65 intronic rs12621 IGFBP7 AR NM_001553 exon1 c.20+68G>T 0.370607 0.2986 0.347540 Uncertain 4_57976566_C->A 4 57976566 57976566 C A snp 134.03 1/1 12 4 0 4 1.0 ncRNA_intronic rs4074555 IGFBP7-AS1 AU 0.203474 0.3145 0.325 . Uncertain 4_62382943_A->G 4 62382943 62382943 A G snp 1012.77 1/1 75 31 0 31 1.0 intronic rs335311 ADGRL3 AU NM_015236 exon1 c.55+19877A>G 0.808506 0.9385 Uncertain 4_62383315_G->C 4 62383315 62383315 G C snp 59.74 1/1 6 3 0 3 1.0 intronic rs335312 ADGRL3 AU NM_015236 exon1 c.55+20249G>C 0.809105 0.9375 Uncertain 4_62445246_T->C 4 62445246 62445246 T C snp 1374.77 0/1 99 171 105 66 0.39 intronic rs10018746 ADGRL3 AU NM_015236 exon2 c.89933-7698T>C 0.454073 0.624 Uncertain 4_62449317_TA->- 4 62449317 62449318 TA - indel 1381.73 0/1 99 67 35 32 0.48 intronic rs3075153 ADGRL3 AU NM_015236 exon2 c.89933-3627_89933-3626delTA 0.590256 0.6637 Uncertain 4_62453209_A->G 4 62453209 62453209 A G snp 429.77 0/1 99 26 9 17 0.65 intronic rs2172802 ADGRL3 AU NM_015236 exon2 c.90147+51A>G 0.444289 0.624 0.295351 Uncertain 4_62542879_G->C 4 62542879 62542879 G C snp 144.03 1/1 12 6 0 6 1.0 intronic rs1391319 ADGRL3 AU NM_015236 exon3 c.179642+226G>C 0.995008 1 Uncertain 4_62598689_C->T 4 62598689 62598689 C T snp 5624.77 1/1 99 200 0 200 1.0 exonic rs10434219 ADGRL3 AU synonymous SNV NM_015236 exon5 c.C612T p.H204H 0.789936 0.9454 0.685444 0.6811 0.9387 Uncertain 4_62599289_G->A 4 62599289 62599289 G A snp 2662.77 1/1 99 77 0 77 1.0 intronic rs9312082 ADGRL3 AU NM_015236 exon5 c.236261+17G>A 0.789936 0.9454 0.682287 0.6933 0.9370 Uncertain 4_62758251_A->G 4 62758251 62758251 A G snp 723.77 1/1 54 20 0 20 1.0 intronic rs7691112 ADGRL3 AU NM_015236 exon7 c.395362-122A>G 0.824081 0.9871 Uncertain 4_62778315_A->G 4 62778315 62778315 A G snp 610.77 0/1 99 46 26 20 0.43 intronic ADGRL3 AU NM_015236 exon10 c.415425-121A>G 0.323283 0.496 Uncertain 4_62800554_G->A 4 62800554 62800554 G A snp 3401.77 1/1 99 128 0 128 1.0 splicing ADGRL3 AU NM_015236 exon11 c.437546-3G>A 0.669529 0.5446 0.765286 0.7057 0.5779 Pathogenic 4_62800728_T->C 4 62800728 62800728 T C snp 1462.77 1/1 99 48 0 48 1.0 exonic ADGRL3 AU synonymous SNV NM_015236 exon11 c.T2079C p.N693N 0.679912 0.5933 0.765018 0.7025 0.6096 1.000 P -1.035 T Likely benign 4_62845388_G->C 4 62845388 62845388 G C snp 1092.77 0/1 99 133 83 50 0.38 exonic ADGRL3 AU synonymous SNV NM_015236 exon15 c.G2709C p.R903R 0.816294 0.8433 0.868678 0.8888 0.8128 1.000 P -1.102 T Likely benign 4_62845490_A->G 4 62845490 62845490 A G snp 1634.77 0/1 99 191 112 79 0.41 exonic ADGRL3 AU synonymous SNV NM_015236 exon15 c.A2811G p.P937P 0.499401 0.3948 0.647626 0.6273 0.3871 1.0 P -0.995 T Likely benign 4_62861941_G->C 4 62861941 62861941 G C snp 6527.77 1/1 99 248 0 248 1.0 intronic ADGRL3 AU NM_015236 exon17 c.498997-67G>C 0.247005 0.3393 Uncertain 4_62861964_A->T 4 62861964 62861964 A T snp 6965.77 1/1 99 250 0 250 1.0 intronic ADGRL3 AU NM_015236 exon17 c.498997-44A>T 0.242612 0.3393 0.228681 0.2407 0.3496 Uncertain 4_65142710_C->T 4 65142710 65142710 C T snp 673.77 0/1 99 41 12 29 0.71 intergenic rs1483713 NONE UN 0.710064 0.7063 0.7278 0.7231 Uncertain 4_65142835_G->T 4 65142835 65142835 G T snp 152.77 0/1 99 11 5 6 0.55 intergenic rs1483712 NONE UN 0.709864 0.7063 Uncertain 4_65145955_T->G 4 65145955 65145955 T G snp 104.28 1/1 9 5 0 5 1.0 intronic rs1483711 TECRL AU NM_001010874 exon1 c.128+38T>G 0.970248 1 0.967807 0.9783 1 Uncertain 4_65145966_-->AA 4 65145966 65145966 - AA indel 239.87 1/1 15 5 0 5 1.0 intronic rs5858871 TECRL AU NM_001010874 exon1 c.128+49insAA 0.970248 1 0.965076 0.9773 1 Uncertain 4_65146700_A->G 4 65146700 65146700 A G snp 1495.77 1/1 99 57 0 57 1.0 intronic rs10012755 TECRL AU NM_001010874 exon2 c.969-58A>G 0.848642 0.998 0.850966 Uncertain 4_65146711_T->C 4 65146711 65146711 T C snp 1487.77 1/1 99 59 0 59 1.0 intronic rs1483709 TECRL AU NM_001010874 exon2 c.969-47T>C 0.970248 1 0.964864 0.9770 1 Uncertain 4_65147404_T->C 4 65147404 65147404 T C snp 96.28 1/1 9 3 0 3 1.0 intronic rs10001161 TECRL AU NM_001010874 exon3 c.1488+127T>C 0.970248 1 Uncertain 4_65165661_G->A 4 65165661 65165661 G A snp 817.77 1/1 60 27 0 27 1.0 intronic rs11935568 TECRL AU NM_001010874 exon5 c.19902-30G>A 0.925319 0.997 0.916025 0.9506 0.9972 Uncertain 4_65165849_G->A 4 65165849 65165849 G A snp 296.77 0/1 99 30 18 12 0.4 intronic rs13139627 TECRL AU NM_001010874 exon5 c.19946+114G>A 0.574481 0.7034 Uncertain 4_65180309_GTGTGTGT->- 4 65180309 65180316 GTGTGTGT - indel 3326.73 1/1 99 40 0 40 1.0 intronic rs200738904 TECRL AU NM_001010874 exon8 c.34576-56_34576-49delGTGTGTGT Uncertain 4_65240750_T->A 4 65240750 65240750 T A snp 41.74 1/1 6 2 0 2 1.0 intronic rs6551826 TECRL AU NM_001010874 exon11 c.95100-139T>A 0.901158 0.999 Uncertain 4_65240805_A->T 4 65240805 65240805 A T snp 179.9 1/1 15 6 0 6 1.0 intronic rs6551827 TECRL AU NM_001010874 exon11 c.95100-84A>T 0.901158 0.999 Uncertain 4_65240822_A->G 4 65240822 65240822 A G snp 169.78 0/1 27 10 2 8 0.8 intronic rs7683730 TECRL AU NM_001010874 exon11 c.95100-67A>G 0.267971 0.2927 Uncertain 4_65240967_A->T 4 65240967 65240967 A T snp 166.77 0/1 99 16 6 10 0.63 intronic rs72614757 TECRL AU NM_001010874 exon11 c.95152+26A>T 0.267971 0.2927 0.192597 0.3151 0.4015 Uncertain 4_66197804_C->T 4 66197804 66197804 C T snp 1704.77 0/1 99 166 94 72 0.43 exonic rs7349683 EPHA5 AU synonymous SNV NM_004439 exon17 c.G2895A p.G965G 0.326677 0.4613 0.282946 0.3465 0.4200 Uncertain 4_66214043_G->A 4 66214043 66214043 G A snp 979.77 1/1 72 31 0 31 1.0 intronic rs2290254 EPHA5 AU NM_004439 exon4 c.24090+122G>A 0.603035 0.8145 Uncertain 4_66218728_C->T 4 66218728 66218728 C T snp 1793.77 1/1 99 67 0 67 1.0 intronic rs3792649 EPHA5 AU NM_004439 exon6 c.28928-31C>T 0.658746 0.8194 0.623654 0.6847 0.8070 Uncertain 4_66233029_A->G 4 66233029 66233029 A G snp 262.77 0/1 99 35 21 14 0.4 intronic rs2198104 EPHA5 AU NM_004439 exon9 c.43243-45A>G 0.360024 0.5198 0.351886 0.4408 0.5057 Uncertain 4_66280171_C->T 4 66280171 66280171 C T snp 1811.77 0/1 99 129 57 72 0.56 intronic rs2305351 EPHA5 AU NM_004439 exon12 c.90330+10C>T 0.180911 0.2857 0.113102 0.1895 0.2944 Uncertain 4_66286088_G->A 4 66286088 66286088 G A snp 626.77 1/1 48 19 0 19 1.0 intronic rs6551921 EPHA5 AU NM_004439 exon13 c.96327-70G>A 0.967452 1 Uncertain 4_66286100_T->C 4 66286100 66286100 T C snp 906.77 1/1 69 30 1 29 0.97 intronic rs6551922 EPHA5 AU NM_004439 exon13 c.96327-58T>C 0.889577 1 Uncertain 4_66286414_T->C 4 66286414 66286414 T C snp 143.03 1/1 12 5 0 5 1.0 intronic rs6551923 EPHA5 AU NM_004439 exon13 c.96452+131T>C 0.97524 1 Uncertain 4_66468047_A->- 4 66468047 66468047 A - indel 286.73 0/1 85 24 4 20 0.83 intronic rs397993765 EPHA5 AU NM_004439 exon16 c.278191+25delA 0.835663 0.8135 0.868988 0.8846 0.7907 Uncertain 4_66509194_T->C 4 66509194 66509194 T C snp 606.77 0/1 99 43 18 25 0.58 intronic rs4343775 EPHA5 AU NM_004439 exon17 c.319314+49T>C 0.576278 0.5972 0.592101 0.5937 0.5809 Uncertain 4_68357814_A->G 4 68357814 68357814 A G snp 139.03 1/1 12 4 0 4 1.0 intronic rs1497430 CENPC AU NM_001812 exon4 c.19575-83A>G 0.699081 0.8274 Uncertain 4_68360955_A->G 4 68360955 68360955 A G snp 1337.77 1/1 93 59 0 59 1.0 intronic rs2646282 CENPC AU NM_001812 exon7 c.22608+25A>G 0.884385 0.9286 0.876141 0.8933 0.9450 Uncertain 4_68374378_T->C 4 68374378 68374378 T C snp 218.84 1/1 18 7 0 7 1.0 intronic rs355515 CENPC AU NM_001812 exon10 c.36209-153T>C 0.700679 0.8274 Uncertain 4_68374597_C->T 4 68374597 68374597 C T snp 3498.77 1/1 99 134 0 134 1.0 exonic rs1056789 CENPC AU synonymous SNV NM_001812 exon10 c.G1839A p.S613S 0.700479 0.8264 0.613329 0.6546 0.8168 Uncertain 4_68376708_T->C 4 68376708 68376708 T C snp 3029.77 1/1 99 118 0 118 1.0 intronic rs190255 CENPC AU NM_001812 exon11 c.39797-1411T>C 0.700679 0.8274 0.6693 0.8333 Uncertain 4_68378473_T->C 4 68378473 68378473 T C snp 56.74 1/1 6 2 0 2 1.0 intronic rs9992020 CENPC AU NM_001812 exon11 c.39965+186T>C 0.209864 0.2381 Uncertain 4_68380215_G->A 4 68380215 68380215 G A snp 1599.77 1/1 99 55 0 55 1.0 exonic rs11250 CENPC AU nonsynonymous SNV NM_001812 exon8 c.C1021T p.L341F 0.700679 0.8274 0.611759 0.6572 0.8171 0.7 T 0.0 P -0.952 T 0.971 D 0.641 D Pathogenic 4_68384008_C->T 4 68384008 68384008 C T snp 106.28 1/1 9 6 0 6 1.0 exonic rs355510 CENPC AU synonymous SNV NM_001812 exon7 c.G696A p.S232S 0.704273 0.8274 0.605697 0.6176 0.7423 Uncertain 4_68384861_G->T 4 68384861 68384861 G T snp 277.8 1/1 21 11 0 11 1.0 intronic rs355507 CENPC AU NM_001812 exon14 c.46612-73G>T 0.690495 0.8264 Uncertain 4_68396525_G->C 4 68396525 68396525 G C snp 2445.77 1/1 99 88 0 88 1.0 intronic rs355477 CENPC AU NM_001812 exon15 c.58210-7G>C 0.704273 0.8264 0.612781 0.6471 0.8008 Uncertain 4_68406627_ATTA->- 4 68406627 68406630 ATTA - indel 2539.73 0/1 99 92 48 44 0.48 intronic rs3836713 CENPC AU NM_001812 exon17 c.68375-70_68375-67delATTA 0.209465 0.2371 Uncertain 4_68436883_T->C 4 68436883 68436883 T C snp 412.77 0/1 99 57 33 24 0.42 intronic rs13111555 STAP1 AU NM_012108 exon2 c.12346+10T>C 0.691294 0.4286 0.861650 0.8056 0.4294 Uncertain 4_68447249_A->G 4 68447249 68447249 A G snp 1183.77 0/1 99 101 51 50 0.5 intronic rs2242330 STAP1 AU NM_012108 exon5 c.22662+60A>G 0.207668 0.246 Uncertain 4_68447352_A->G 4 68447352 68447352 A G snp 46.77 0/1 31 3 1 2 0.67 intronic rs2242329 STAP1 AU NM_012108 exon5 c.22662+163A>G 0.69988 0.4286 Uncertain 4_68458937_G->C 4 68458937 68458937 G C snp 1271.77 1/1 93 42 0 42 1.0 intronic rs3816821 STAP1 AU NM_012108 exon8 c.34450-40G>C 0.48742 0.6458 0.429033 0.5127 0.6733 Uncertain 4_68496080_G->A 4 68496080 68496080 G A snp 1281.77 1/1 93 41 0 41 1.0 intronic rs354866 UBA6 AU NM_018227 exon8 c.11469-103G>A 0.887181 0.9921 Uncertain 4_68504951_T->C 4 68504951 68504951 T C snp 133.03 1/1 12 4 0 4 1.0 intronic rs3806809 UBA6 AU NM_018227 exon15 c.20128+109T>C 0.222644 0.2867 Uncertain 4_68700956_A->G 4 68700956 68700956 A G snp 576.77 1/1 42 22 0 22 1.0 intronic rs6824984 TMPRSS11D AU NM_004262 exon5 c.12785+117A>G 0.800519 0.9901 Uncertain 4_68749618_G->A 4 68749618 68749618 G A snp 2297.77 1/1 99 83 0 83 1.0 intronic rs55766746 TMPRSS11D AU NM_004262 exon10 c.61589-25G>A 0.117812 0.1587 0.102570 0.0820 0.1534 Uncertain 4_68784518_G->T 4 68784518 68784518 G T snp 309.78 1/1 24 8 0 8 1.0 intronic rs353165 TMPRSS11A AU NM_182606 exon3 c.7631-172G>T 0.0974441 0.1587 Uncertain 4_68784575_C->A 4 68784575 68784575 C A snp 1454.77 1/1 99 45 0 45 1.0 intronic rs353164 TMPRSS11A AU NM_182606 exon3 c.7631-115C>A 0.0974441 0.1587 Uncertain 4_68784774_T->C 4 68784774 68784774 T C snp 5418.77 1/1 99 200 0 200 1.0 exonic rs353163 TMPRSS11A AU nonsynonymous SNV NM_182606 exon8 c.A878G p.Q293R 0.73143 0.8194 0.735199 0.6779 0.8299 1 T 0.0 P -0.930 T 0.0 T 0.0 T ID=CM062589;DIS=Oesophageal cancer, association with;TAG=DP;PUB=16267096 DP Pathogenic 4_68788694_G->A 4 68788694 68788694 G A snp 2391.77 1/1 99 80 0 80 1.0 intronic rs353159 TMPRSS11A AU NM_182606 exon4 c.11585+50G>A 0.740415 0.8194 0.746655 0.6834 0.8290 Uncertain 4_68788719_T->C 4 68788719 68788719 T C snp 1773.77 1/1 99 59 2 57 0.97 intronic rs2119382 TMPRSS11A AU NM_182606 exon4 c.11585+75T>C 0.677117 0.8185 Uncertain 4_68812283_C->T 4 68812283 68812283 C T snp 3744.77 1/1 99 141 0 141 1.0 exonic rs11930532 TMPRSS11A AU synonymous SNV NM_182606 exon2 c.G18A p.V6V 0.620807 0.8105 0.661848 0.7371 0.8238 Uncertain 4_68812444_-->AA 4 68812444 68812444 - AA indel 166.8 1/1 18 9 0 9 1.0 intronic rs34591422 TMPRSS11A AU NM_182606 exon9 c.35230+155insAA 0.590256 0.8036 Uncertain 4_68829207_G->A 4 68829207 68829207 G A snp 2109.77 1/1 99 61 0 61 1.0 UTR5 rs6552134 TMPRSS11A AU 0.578674 0.8165 0.633377 Uncertain 4_68904637_A->C 4 68904637 68904637 A C snp 5293.77 1/1 99 196 2 194 0.99 intergenic rs6552141 TMPRSS11GP AU 0.690695 0.8651 Uncertain 4_68904834_T->G 4 68904834 68904834 T G snp 1546.77 1/1 99 47 0 47 1.0 intergenic rs9999589 TMPRSS11GP AU 0.64996 0.8651 Uncertain 4_68919617_G->A 4 68919617 68919617 G A snp 3403.77 1/1 99 113 0 113 1.0 ncRNA_intronic rs10018943 LOC550113 AU 0.657947 0.8651 0.704060 0.7292 0.8817 Uncertain 4_68928740_G->A 4 68928740 68928740 G A snp 4543.77 1/1 99 151 1 150 0.99 ncRNA_exonic rs1837215 LOC550113 AU 0.635383 0.8651 0.684838 0.7214 0.8817 Uncertain 4_68934306_G->A 4 68934306 68934306 G A snp 862.77 1/1 66 23 0 23 1.0 ncRNA_intronic rs10004522 LOC550113 AU 0.634984 0.8641 0.684838 0.7209 0.8823 Uncertain 4_68956422_T->A 4 68956422 68956422 T A snp 479.77 0/1 99 50 30 20 0.4 intronic rs57121360 TMPRSS11F AU NM_207407 exon8 c.36733+63T>A 0.36901 0.4067 Uncertain 4_68956498_C->T 4 68956498 68956498 C T snp 564.77 1/1 42 20 0 20 1.0 intronic rs13115830 TMPRSS11F AU NM_207407 exon8 c.36733+139C>T 0.948682 0.999 Uncertain 4_68995529_C->T 4 68995529 68995529 C T snp 882.77 0/1 99 100 56 44 0.44 exonic rs10030708 TMPRSS11F AU nonsynonymous SNV NM_207407 exon1 c.G10A p.A4T 0.328874 0.4593 0.307935 0.2981 0.4944 0.28 T 0.089 P -0.983 T 0.905 T 0.161 P Pathogenic 4_69057073_G->A 4 69057073 69057073 G A snp 2075.77 1/1 99 75 0 75 1.0 ncRNA_intronic rs4860284 FTLP10 AU 0.728035 0.9901 0.715132 0.7800 0.9887 Uncertain 4_69078113_T->C 4 69078113 69078113 T C snp 2854.77 1/1 99 106 0 106 1.0 ncRNA_exonic rs4463136 FTLP10 AU 0.71865 0.9901 0.708279 0.7713 0.9891 0.71 T 0.000 P -0.910 T 0.59 P 0.199 P Uncertain 4_69083563_C->T 4 69083563 69083563 C T snp 802.77 1/1 57 33 0 33 1.0 ncRNA_intronic rs10008636 TMPRSS11BNL AU 0.728035 0.9901 0.715506 Uncertain 4_69094507_T->A 4 69094507 69094507 T A snp 2779.77 1/1 99 112 0 112 1.0 exonic rs2319797 TMPRSS11B AU nonsynonymous SNV NM_182502 exon9 c.A1042T p.T348S 0.71845 0.9901 0.692296 0.7564 0.9956 0.16 T 0.0 P -0.995 T 0.316 T 0.076 T Pathogenic 4_69094575_T->G 4 69094575 69094575 T G snp 1708.77 1/1 99 52 0 52 1.0 exonic rs2319796 TMPRSS11B AU nonsynonymous SNV NM_182502 exon9 c.A974C p.D325A 0.994209 1 0.996002 0.9988 1 1 T 0.000 P -0.909 T 0.0 T 0.0 T Pathogenic 4_69094927_TAAA->- 4 69094927 69094930 TAAA - indel 830.73 1/1 39 13 0 13 1.0 intronic rs35036454 TMPRSS11B AU NM_182502 exon3 c.1346-47_1346-44delTAAA 0.717851 0.9881 0.691684 0.7294 0.9416 Uncertain 4_69095197_T->C 4 69095197 69095197 T C snp 1699.77 1/1 99 62 0 62 1.0 exonic rs12331141 TMPRSS11B AU nonsynonymous SNV NM_182502 exon8 c.A724G p.I242V 0.718051 0.9901 0.691988 0.7564 0.9955 0.52 T 0.0 P -1.000 T 0.003 T 0.008 T Pathogenic 4_69096810_G->T 4 69096810 69096810 G T snp 56.74 1/1 6 2 0 2 1.0 intronic rs10024748 TMPRSS11B AU NM_182502 exon4 c.3292-110G>T 0.728035 0.9901 Uncertain 4_69097151_A->- 4 69097151 69097151 A - indel 420.73 1/1 39 15 0 15 1.0 intronic rs397993858 TMPRSS11B AU NM_182502 exon4 c.3470+53delA 0.994209 1 0.996081 0.9988 1 Uncertain 4_69101997_-->A 4 69101997 69101997 - A indel 117.73 0/1 99 18 8 10 0.56 intronic rs33998905 TMPRSS11B AU NM_182502 exon8 c.8356+13insA 0.145168 0.2937 0.084370 0.1450 0.3306 Uncertain 4_69181899_-->AG 4 69181899 69181899 - AG indel 382.75 1/1 24 8 0 8 1.0 intergenic rs57763318 TMPRSS11B AU 0.828474 0.9623 Uncertain 4_69182335_C->T 4 69182335 69182335 C T snp 43.77 0/1 66 4 2 2 0.5 intergenic rs58108365 TMPRSS11B AU 0.254593 0.5734 Uncertain 4_69203080_T->C 4 69203080 69203080 T C snp 2144.77 0/1 99 181 93 88 0.49 intergenic rs3813832 TMPRSS11B AU 0.0613019 0.2232 0.018761 0.0441 0.2575 1 T 0.045 P -0.993 T 0.017 T 0.047 T Uncertain 4_69203551_A->T 4 69203551 69203551 A T snp 3640.77 1/1 99 128 0 128 1.0 intergenic rs10213623 TMPRSS11B AU 0.99401 1 0.992234 0.9978 1 Uncertain 4_69215349_A->G 4 69215349 69215349 A G snp 702.77 1/1 54 36 2 34 0.94 intergenic rs7667575 TMPRSS11B AU 0.829872 0.9623 Uncertain 4_69340500_A->G 4 69340500 69340500 A G snp 2297.77 1/1 99 86 0 86 1.0 intergenic TMPRSS11B AU 0.584665 0.7688 0.456161 0.4777 0.7753 Uncertain 4_69342169_G->C 4 69342169 69342169 G C snp 4217.77 1/1 99 161 0 161 1.0 intergenic TMPRSS11B AU 0.579273 0.7688 0.449716 0.4775 0.7750 Uncertain 4_69342267_G->A 4 69342267 69342267 G A snp 2280.77 1/1 99 74 0 74 1.0 intergenic TMPRSS11B AU 0.917931 0.9534 Uncertain 4_69343353_A->G 4 69343353 69343353 A G snp 6416.77 1/1 99 221 1 220 1.0 intergenic TMPRSS11B AU 0.725639 0.8542 0.633631 0.6845 0.8640 Uncertain 4_69344733_G->T 4 69344733 69344733 G T snp 5129.77 1/1 99 177 0 177 1.0 intergenic TMPRSS11B AU 0.725839 0.8542 0.633708 0.6847 0.8645 Uncertain 4_69344883_C->T 4 69344883 69344883 C T snp 48.74 1/1 6 2 0 2 1.0 intergenic TMPRSS11B AU 0.725839 0.8542 Uncertain 4_69512654_G->A 4 69512654 69512654 G A snp 56.74 1/1 6 2 0 2 1.0 UTR3 UGT2B15 AU 0.374002 0.1895 ID=CR114285;DIS=Increased gene expression;TAG=FP;PUB=21513781 FP Uncertain 4_69512847_T->G 4 69512847 69512847 T G snp 2412.77 0/1 99 220 121 99 0.45 exonic UGT2B15 AU nonsynonymous SNV NM_001076 exon6 c.A1568C p.K523T 0.367612 0.1895 0.494383 0.5459 0.1706 0.47 T 0.0 P -0.927 T 0.0 T 0.0 T Pathogenic 4_69533702_T->A 4 69533702 69533702 T A snp 937.77 0/1 99 80 45 35 0.44 intronic UGT2B15 AU NM_001076 exon5 c.20936-55T>A 0.24401 0.2817 Uncertain 4_69536084_A->C 4 69536084 69536084 A C snp 1076.77 0/1 99 101 53 48 0.48 exonic UGT2B15 AU nonsynonymous SNV NM_001076 exon1 c.T253G p.Y85D 0.546526 0.5774 0.502463 0.5024 0.5537 0.64 T 0.0 P -0.937 T 0.0 T 0.0 T ID=CM004865;DIS=Lower activity, association with;TAG=DFP;PUB=10750673 DFP Pathogenic 4_69681675_A->T 4 69681675 69681675 A T snp 3351.77 1/1 99 113 0 113 1.0 intergenic UGT2B15 AU 0.740216 0.8958 Uncertain 4_69682471_A->G 4 69682471 69682471 A G snp 2677.77 1/1 99 95 0 95 1.0 intergenic UGT2B15 AU 0.921925 1 0.927763 0.9785 1 Uncertain 4_69682555_G->A 4 69682555 69682555 G A snp 643.77 1/1 48 19 0 19 1.0 intergenic UGT2B15 AU 0.766973 0.9137 Uncertain 4_69696648_T->C 4 69696648 69696648 T C snp 2428.77 0/1 99 178 81 97 0.54 intergenic rs4694358 UGT2B15 AU 0.122404 0.1042 0.097125 Uncertain 4_69795626_C->T 4 69795626 69795626 C T snp 3173.77 1/1 99 121 0 121 1.0 intergenic UGT2B15 AU 0.676318 0.6905 0.752499 0.7662 0.6792 0.1 T 0.000 P -0.914 T 0.63 T 0.544 P ID=CM083792;DIS=Reduced enzyme activity;TAG=FP;PUB=18523138 FP Uncertain 4_69796548_G->A 4 69796548 69796548 G A snp 1929.77 1/1 99 72 0 72 1.0 intergenic UGT2B15 AU 0.676318 0.6905 Uncertain 4_69796838_G->A 4 69796838 69796838 G A snp 2502.77 1/1 99 98 0 98 1.0 intergenic UGT2B15 AU 0.780551 0.7351 0.854067 0.9144 0.7260 Uncertain 4_69808885_T->A 4 69808885 69808885 T A snp 260.77 0/1 99 26 15 11 0.42 intergenic UGT2B15 AU 0.243411 0.3442 Uncertain 4_69808895_A->T 4 69808895 69808895 A T snp 1039.77 1/1 75 34 0 34 1.0 intergenic UGT2B15 AU 0.676917 0.6905 Uncertain 4_69810923_A->C 4 69810923 69810923 A C snp 94.28 1/1 9 3 0 3 1.0 intergenic UGT2B15 AU 0.646965 0.624 Uncertain 4_69817080_C->T 4 69817080 69817080 C T snp 1715.77 0/1 99 184 112 72 0.39 intergenic UGT2B15 AU 0.239617 0.3452 0.206751 0.2027 0.3404 Uncertain 4_69886151_A->T 4 69886151 69886151 A T snp 1037.77 0/1 99 90 49 41 0.46 upstream rs11730623 UGT2B10 AU 0.543131 0.3829 Uncertain 4_69962078_T->C 4 69962078 69962078 T C snp 189.77 0/1 99 12 6 6 0.5 upstream rs7668258 UGT2B7 AU 0.665136 0.7252 Uncertain 4_69964180_T->C 4 69964180 69964180 T C snp 101.77 0/1 99 17 12 5 0.29 intronic rs7439326 UGT2B7 AU NM_001074 exon2 c.2019-77T>C 0.665136 0.7252 Uncertain 4_69964209_A->G 4 69964209 69964209 A G snp 352.77 0/1 99 37 20 17 0.46 intronic rs7438244 UGT2B7 AU NM_001074 exon2 c.2019-48A>G 0.665136 0.7252 0.553839 0.5587 0.7049 Uncertain 4_69964234_-->T 4 69964234 69964234 - T indel 488.73 0/1 99 55 29 26 0.47 intronic rs34182209 UGT2B7 AU NM_001074 exon2 c.2019-23insT 0.51278 0.6081 0.410631 0.3983 0.5399 Uncertain 4_69964337_A->T 4 69964337 69964337 A T snp 1281.77 0/1 99 144 80 64 0.44 exonic rs7438284 UGT2B7 AU synonymous SNV NM_001074 exon2 c.A801T p.P267P 0.665136 0.7252 0.164078 0.5597 0.7069 Uncertain 4_69964338_T->C 4 69964338 69964338 T C snp 1294.77 0/1 99 144 78 66 0.46 exonic rs7439366 UGT2B7 AU nonsynonymous SNV NM_001074 exon2 c.T802C p.Y268H 0.665136 0.7252 0.178407 0.5597 0.7071 0.000 P -0.919 T 0.0 T 0.001 T ID=CM057512;DIS=Bladder cancer in benzidine-exposed workers, association with;TAG=DFP;PUB=15615884 DFP Pathogenic 4_69972777_G->A 4 69972777 69972777 G A snp 381.77 0/1 99 28 12 16 0.57 intronic rs5013211 UGT2B7 AU NM_001074 exon4 c.10654-115G>A 0.670927 0.7242 Uncertain 4_69972779_G->A 4 69972779 69972779 G A snp 333.77 0/1 99 32 19 13 0.41 intronic rs4257713 UGT2B7 AU NM_001074 exon4 c.10654-113G>A 0.150359 0.2103 Uncertain 4_69972949_C->G 4 69972949 69972949 C G snp 652.77 0/1 99 68 38 30 0.44 exonic rs4292394 UGT2B7 AU synonymous SNV NM_001074 exon4 c.C1059G p.L353L 0.670927 0.7242 0.572428 0.5575 0.7072 Uncertain 4_69973044_A->T 4 69973044 69973044 A T snp 64.77 0/1 93 13 9 4 0.31 intronic rs4337789 UGT2B7 AU NM_001074 exon4 c.10742+64A>T 0.670927 0.7242 Uncertain 4_70079838_T->C 4 70079838 70079838 T C snp 1883.77 0/1 99 131 62 69 0.53 exonic rs4694697 UGT2B11 AU synonymous SNV NM_001073 exon1 c.A603G p.L201L 0.303514 0.2946 0.376847 0.3983 0.2992 Uncertain 4_70079963_G->A 4 70079963 70079963 G A snp 2383.77 0/1 99 218 119 99 0.45 exonic rs72551399 UGT2B11 AU synonymous SNV NM_001073 exon1 c.C478T p.L160L 0.0417332 0.1687 0.000538 0.0156 0.1594 Uncertain 4_70080093_C->T 4 70080093 70080093 C T snp 496.77 0/1 99 35 19 16 0.46 exonic rs150042325 UGT2B11 AU synonymous SNV NM_001073 exon1 c.G348A p.L116L 0.0277556 0.1002 0.000544 0.0119 0.1116 Uncertain 4_70146704_G->A 4 70146704 70146704 G A snp 2218.77 0/1 99 237 131 106 0.45 exonic rs7689398 UGT2B28 AU synonymous SNV NM_053039 exon1 c.G486A p.A162A 0.367812 0.3829 0.447797 0.4828 0.3765 Uncertain 4_70160277_T->G 4 70160277 70160277 T G snp 71.77 0/1 99 6 3 3 0.5 exonic rs6843900 UGT2B28 AU nonsynonymous SNV NM_053039 exon6 c.T1340G p.I447R 0.376997 0.3819 0.451202 0.4862 0.3824 1 T 1.000 P -0.921 T 0.0 T 0.0 T Pathogenic 4_70160309_C->G 4 70160309 70160309 C G snp 697.77 0/1 99 38 15 23 0.61 exonic rs6828191 UGT2B28 AU nonsynonymous SNV NM_053039 exon6 c.C1372G p.H458D 0.376997 0.3819 0.458333 0.4917 0.3852 1 T 1.0 P -0.903 T 0.0 T 0.0 T Pathogenic 4_70283908_T->A 4 70283908 70283908 T A snp 1526.77 1/1 99 53 0 53 1.0 intergenic rs2642841 UGT2B28 AU 0.988818 1 Uncertain 4_70283938_T->G 4 70283938 70283938 T G snp 497.77 0/1 99 35 15 20 0.57 intergenic UGT2B28 AU Uncertain 4_70288954_C->T 4 70288954 70288954 C T snp 69.77 0/1 98 72 47 25 0.35 intergenic rs2736507 UGT2B28 AU 0.716653 0.6042 Uncertain 4_70288981_C->T 4 70288981 70288981 C T snp 122.77 0/1 99 39 26 13 0.33 intergenic rs2736505 UGT2B28 AU 0.716853 0.6052 Uncertain 4_70289020_G->A 4 70289020 70289020 G A snp 155.77 0/1 99 9 4 5 0.56 intergenic rs2736504 UGT2B28 AU 0.272165 0.3958 Uncertain 4_70346711_G->C 4 70346711 70346711 G C snp 2044.77 1/1 99 71 0 71 1.0 intronic rs28679647 UGT2B4 AU NM_001297616 exon1 c.277+83G>C 0.905751 0.8958 Uncertain 4_70352164_-->ATTATC 4 70352164 70352164 - ATTATC indel 409.87 1/1 15 5 0 5 1.0 intronic rs41297427 UGT2B4 AU NM_001297616 exon3 c.5975-162insATTATC 0.607827 0.4831 Uncertain 4_70355211_T->C 4 70355211 70355211 T C snp 612.77 1/1 45 19 0 19 1.0 exonic rs1845555 UGT2B4 AU synonymous SNV NM_001297615 exon3 c.A948G p.T316T 0.9998 1 0.9999 1 Uncertain 4_70355380_T->A 4 70355380 70355380 T A snp 972.77 1/1 69 40 0 40 1.0 intronic rs28542932 UGT2B4 AU NM_001297616 exon4 c.8937+92T>A 0.458866 0.4851 Uncertain 4_70359694_G->A 4 70359694 70359694 G A snp 35.77 0/1 64 7 5 2 0.29 intronic rs7441743 UGT2B4 AU NM_001297616 exon5 c.13208+135G>A 0.33107 0.2708 Uncertain 4_70391600_A->G 4 70391600 70391600 A G snp 156.77 0/1 99 8 3 5 0.63 UTR5 rs112259104 UGT2B4 AU 0.136581 0.3492 Uncertain 4_70455478_G->T 4 70455478 70455478 G T snp 954.77 1/1 69 34 0 34 1.0 intronic rs2288741 UGT2A1 AU NM_006798 exon1 c.280+109G>T 0.770966 0.7808 Uncertain 4_70462250_T->C 4 70462250 70462250 T C snp 180.9 1/1 15 5 0 5 1.0 intronic rs1967984 UGT2A1 AU NM_006798 exon4 c.7010+151T>C 0.295727 0.5685 Uncertain 4_70465153_A->T 4 70465153 70465153 A T snp 5585.77 1/1 99 213 1 212 1.0 intronic rs3775782 UGT2A1 AU NM_006798 exon5 c.10023+41A>T 0.421326 0.5694 0.375942 0.4169 0.555 Uncertain 4_70513139_C->T 4 70513139 70513139 C T snp 5801.77 1/1 99 195 0 195 1.0 exonic rs1347046 UGT2A1 AU nonsynonymous SNV NM_006798 exon2 c.G224A p.R75K 1 1 1.0000 1 0.12 T -1.028 T 0.0 T 0.001 T ID=CM115491;DIS=Altered enzyme activity;TAG=FP;PUB=21164388 FP Pathogenic 4_70592790_G->T 4 70592790 70592790 G T snp 3665.77 1/1 99 142 0 142 1.0 UTR3 rs2292092 SULT1B1 AU 0.429712 0.6002 0.361658 0.4536 0.6174 Uncertain 4_70599073_C->T 4 70599073 70599073 C T snp 2009.77 1/1 99 76 0 76 1.0 intronic rs1847366 SULT1B1 AU NM_014465 exon3 c.6325-57C>T 0.44389 0.5992 Uncertain 4_70615621_C->T 4 70615621 70615621 C T snp 1036.77 1/1 75 35 0 35 1.0 intronic rs4149413 SULT1B1 AU NM_014465 exon5 c.22731+85C>T 0.114417 0.369 Uncertain 4_70620708_G->A 4 70620708 70620708 G A snp 2183.77 1/1 99 66 0 66 1.0 intronic rs2134668 SULT1B1 AU NM_014465 exon7 c.27982-79G>A 0.63139 0.7212 Uncertain 4_70802218_T->C 4 70802218 70802218 T C snp 847.77 0/1 99 67 28 39 0.58 intronic rs962689 CSN1S1 AU NM_001890 exon6 c.3924+21T>C 0.169928 0.0833 0.204627 0.2933 0.1139 Uncertain 4_70803380_T->A 4 70803380 70803380 T A snp 36.77 0/1 65 5 3 2 0.4 intronic rs1220860 CSN1S1 AU NM_001890 exon9 c.5244-137T>A 0.528754 0.7113 Uncertain 4_70805830_CA->- 4 70805830 70805831 CA - indel 220.77 1/1 21 11 0 11 1.0 intronic rs35000195 CSN1S1 AU NM_001890 exon11 c.7489+68_7489+69delCA Uncertain 4_70807747_T->C 4 70807747 70807747 T C snp 605.77 0/1 99 42 14 28 0.67 intronic rs62305467 CSN1S1 AU NM_001890 exon13 c.9490-16T>C 0.170727 0.0833 0.188979 0.3073 0.1722 Uncertain 4_70807771_C->T 4 70807771 70807771 C T snp 596.77 0/1 99 41 14 27 0.66 exonic rs10030475 CSN1S1 AU nonsynonymous SNV NM_001025104 exon12 c.C323T p.A108V 0.376398 0.2887 0.368099 0.4600 0.3699 1 T 1.000 P -0.979 T 0.0 T 0.0 T Pathogenic 4_70808097_T->C 4 70808097 70808097 T C snp 77.77 0/1 28 4 1 3 0.75 intronic rs3775766 CSN1S1 AU NM_001890 exon14 c.9980-156T>C 0.169928 0.0833 Uncertain 4_70811806_T->C 4 70811806 70811806 T C snp 432.77 0/1 99 38 17 21 0.55 intronic rs1237375 CSN1S1 AU NM_001890 exon16 c.13640-107T>C 0.483826 0.6369 Uncertain 4_70865621_G->A 4 70865621 70865621 G A snp 79.77 0/1 99 9 5 4 0.44 intronic rs17698678 STATH AU NM_003154 exon4 c.1372+95G>A 0.172324 0.0863 Uncertain 4_70896355_A->G 4 70896355 70896355 A G snp 114.77 0/1 99 9 4 5 0.56 intronic rs13123938 HTN3 AU 0.503195 0.629 Uncertain 4_70898953_C->T 4 70898953 70898953 C T snp 1085.77 0/1 99 85 41 44 0.52 UTR3 rs1136515 HTN3 AU 0.479832 0.629 0.492311 0.5282 0.6401 Uncertain 4_70899037_T->A 4 70899037 70899037 T A snp 223.77 0/1 99 27 16 11 0.41 intronic rs776852 HTN3 AU NM_000200 exon5 c.2513+67T>A 0.795727 0.8681 Uncertain 4_70921164_T->C 4 70921164 70921164 T C snp 619.77 0/1 99 48 24 24 0.5 intronic rs2271643 HTN1 AU NM_002159 exon5 c.2421-50T>C 0.796126 0.869 0.760502 0.7105 0.8587 Uncertain 4_70921337_G->A 4 70921337 70921337 G A snp 1178.77 0/1 99 84 37 47 0.56 intronic rs2271644 HTN1 AU NM_002159 exon5 c.2526+18G>A 0.796126 0.869 0.760308 0.7098 0.8604 Uncertain 4_70934964_A->G 4 70934964 70934964 A G snp 347.78 1/1 27 10 0 10 1.0 ncRNA_intronic rs4694266 CSN1S2AP AU 0.694888 0.7431 Uncertain 4_70936305_C->T 4 70936305 70936305 C T snp 166.77 0/1 99 32 22 10 0.31 ncRNA_intronic rs17644242 CSN1S2AP AU 0.16893 0.0853 Uncertain 4_70944452_G->A 4 70944452 70944452 G A snp 809.77 1/1 57 35 0 35 1.0 ncRNA_intronic rs1399812 CSN1S2AP AU 0.962061 0.9534 0.9799 0.9697 Uncertain 4_70947318_C->T 4 70947318 70947318 C T snp 1641.77 1/1 99 60 0 60 1.0 ncRNA_intronic rs2063819 CSN1S2AP AU 0.96246 0.9534 0.9801 0.9694 Uncertain 4_70947376_T->A 4 70947376 70947376 T A snp 307.78 1/1 24 8 0 8 1.0 ncRNA_intronic rs2063820 CSN1S2AP AU 0.808107 0.7431 Uncertain 4_70948533_T->C 4 70948533 70948533 T C snp 564.77 1/1 42 19 0 19 1.0 ncRNA_intronic rs7675265 CSN1S2AP AU 0.808107 0.7431 Uncertain 4_70948630_A->G 4 70948630 70948630 A G snp 99.28 1/1 9 3 0 3 1.0 ncRNA_intronic rs7670468 CSN1S2AP AU 0.809105 0.7431 Uncertain 4_71008313_G->T 4 71008313 71008313 G T snp 1213.77 1/1 87 46 0 46 1.0 ncRNA_intronic rs777398 CSN1S2BP AU 0.998802 1 0.9996 1 Uncertain 4_71008375_T->C 4 71008375 71008375 T C snp 415.77 1/1 33 13 0 13 1.0 ncRNA_intronic rs777399 CSN1S2BP AU 0.896565 0.9722 Uncertain 4_71009033_A->G 4 71009033 71009033 A G snp 96.28 1/1 9 3 0 3 1.0 ncRNA_intronic rs777400 CSN1S2BP AU 0.776358 0.7639 Uncertain 4_71019996_G->A 4 71019996 71019996 G A snp 43.77 0/1 72 4 2 2 0.5 UTR5 rs529122227 PRR27 AU 0.000199681 Uncertain 4_71020205_C->G 4 71020205 71020205 C G snp 952.77 1/1 69 31 0 31 1.0 intronic rs1709273 PRR27 AU NM_214711 exon1 c.51+62C>G 0.940895 1 0.935145 Uncertain 4_71024010_-->ACAA 4 71024010 71024010 - ACAA indel 1605.73 1/1 72 24 0 24 1.0 intronic rs111347259 PRR27 AU NM_214711 exon3 c.3952-34insACAA 0.959065 1 0.946654 0.9772 0.9998 Uncertain 4_71062256_C->T 4 71062256 71062256 C T snp 214.77 0/1 99 31 21 10 0.32 UTR5 rs3756132 ODAM AU 0.283347 0.3006 0.252729 0.3264 0.3176 Uncertain 4_71062342_C->T 4 71062342 71062342 C T snp 428.77 0/1 99 59 39 20 0.34 intronic rs3756131 ODAM AU NM_017855 exon1 c.51+31C>T 0.288538 0.3006 0.256093 0.2998 0.2757 Uncertain 4_71062426_C->T 4 71062426 71062426 C T snp 359.77 0/1 99 33 19 14 0.42 exonic rs17704351 ODAM AU synonymous SNV NM_017855 exon2 c.C69T p.L23L 0.288538 0.2996 0.256352 0.2938 0.2754 Uncertain 4_71063964_G->A 4 71063964 71063964 G A snp 330.77 0/1 99 25 12 13 0.52 intronic rs2306445 ODAM AU NM_017855 exon4 c.1614+90G>A 0.152556 0.2887 Uncertain 4_71065944_A->- 4 71065944 71065944 A - indel 219.73 0/1 99 32 14 18 0.56 intronic rs34093806 ODAM AU NM_017855 exon6 c.3953-269delA 0.664137 0.5615 Uncertain 4_71067317_C->A 4 71067317 71067317 C A snp 291.77 0/1 99 34 21 13 0.38 intronic rs4694273 ODAM AU NM_017855 exon7 c.4958+99C>A 0.672125 0.5516 Uncertain 4_71068489_T->C 4 71068489 71068489 T C snp 2337.77 0/1 99 198 102 96 0.48 exonic rs3196714 ODAM AU nonsynonymous SNV NM_017855 exon9 c.T665C p.I222T 0.283746 0.3006 0.254615 0.2931 0.2775 0.51 T 0.0 P -1.017 T 0.007 T 0.005 T Pathogenic 4_71201388_C->T 4 71201388 71201388 C T snp 5498.77 1/1 99 189 0 189 1.0 exonic rs1351419 CABS1 AU nonsynonymous SNV NM_033122 exon1 c.C632T p.T211I 0.923522 1 0.904106 0.9463 1 0.67 T 0.0 P -1.005 T 0.0 T 0.0 T Pathogenic 4_71227802_A->G 4 71227802 71227802 A G snp 1838.77 0/1 99 103 35 68 0.66 intronic rs1842478 SMR3A AU 0.52516 0.6399 0.5714 0.5984 Uncertain 4_71227998_A->T 4 71227998 71227998 A T snp 978.77 1/1 72 30 0 30 1.0 intronic rs1842477 SMR3A AU NM_012390 exon2 c.54+112A>T 0.53115 0.6429 Uncertain 4_71228001_G->A 4 71228001 71228001 G A snp 900.77 1/1 66 29 1 28 0.97 intronic rs1842476 SMR3A AU NM_012390 exon2 c.54+115G>A 0.95647 1 Uncertain 4_71232369_G->A 4 71232369 71232369 G A snp 1477.77 0/1 99 124 70 54 0.44 exonic rs149268035 SMR3A AU synonymous SNV NM_012390 exon3 c.G63A p.E21E 0.0147764 0.0417 0.000154 0.0099 0.0449 Uncertain 4_71232388_G->A 4 71232388 71232388 G A snp 2340.77 0/1 99 169 76 93 0.55 exonic rs10031844 SMR3A AU nonsynonymous SNV NM_012390 exon3 c.G82A p.G28R 0.295927 0.4177 0.232816 0.2938 0.3821 0.32 T 0.0 P -0.913 T 0.001 T 0.003 T Pathogenic 4_71232430_T->C 4 71232430 71232430 T C snp 7013.77 1/1 99 250 0 250 1.0 exonic rs10024123 SMR3A AU nonsynonymous SNV NM_012390 exon3 c.T124C p.C42R 0.953075 1 0.937106 0.9645 1 0.93 T 0.0 P -0.973 T 0.0 T 0.0 T Pathogenic 4_71232701_C->T 4 71232701 71232701 C T snp 2417.77 0/1 99 178 76 102 0.57 exonic rs6853742 SMR3A AU nonsynonymous SNV NM_012390 exon3 c.C395T p.P132L 0.658946 0.5903 0.704290 0.6749 0.6247 1 T 0.0 P -0.959 T 0.033 T 0.012 T Pathogenic 4_71232742_C->G 4 71232742 71232742 C G snp 1353.77 0/1 99 148 85 63 0.43 UTR3 rs3775732 SMR3A AU 0.294329 0.4097 0.232585 0.2926 0.3855 Uncertain 4_71250308_T->A 4 71250308 71250308 T A snp 1167.77 1/1 84 76 1 75 0.99 intronic rs2233586 SMR3B AU NM_006685 exon2 c.54+27T>A 0.950679 1 0.9559 0.9999 Uncertain 4_71250399_A->G 4 71250399 71250399 A G snp 850.77 1/1 63 26 0 26 1.0 intronic rs7676909 SMR3B AU NM_006685 exon2 c.54+118A>G 0.952676 1 Uncertain 4_71255370_A->T 4 71255370 71255370 A T snp 829.77 0/1 99 50 17 33 0.66 intronic rs7674958 SMR3B AU NM_006685 exon3 c.5152-9A>T 0.674521 0.5942 0.689989 0.6745 0.6306 Uncertain 4_71255593_G->A 4 71255593 71255593 G A snp 2048.77 0/1 99 171 84 87 0.51 UTR3 rs2988 SMR3B AU 0.674521 0.5942 0.689759 0.6737 0.6318 Uncertain 4_71255767_A->G 4 71255767 71255767 A G snp 1442.77 0/1 99 127 67 60 0.47 UTR3 rs3733493 SMR3B AU 0.67472 0.5942 0.6933 0.6590 0.15 T 0.0 P -1.019 T Uncertain 4_71275012_T->C 4 71275012 71275012 T C snp 281.77 0/1 99 20 9 11 0.55 intronic rs1352689 PROL1 AU NM_021225 exon3 c.10094-84T>C 0.823283 0.7966 Uncertain 4_71275232_C->T 4 71275232 71275232 C T snp 3022.77 0/1 99 217 96 121 0.56 exonic rs76472753 PROL1 AU nonsynonymous SNV NM_021225 exon3 c.C187T p.L63F 0.0403355 0.1776 0.000658 0.0149 0.1364 0 D 0.0 P -1.022 T 0.087 T 0.009 T Pathogenic 4_71339723_G->A 4 71339723 71339723 G A snp 2159.77 0/1 99 224 123 101 0.45 splicing rs2306949 MUC7 AD 0.208666 0.2044 0.196063 0.1689 0.1693 Pathogenic 4_71339728_C->T 4 71339728 71339728 C T snp 2209.77 0/1 99 224 123 101 0.45 UTR5 rs2306948 MUC7 AD 0.208666 0.2044 0.196294 0.1690 0.1694 Uncertain 4_71339846_G->A 4 71339846 71339846 G A snp 1004.77 0/1 99 87 50 37 0.43 intronic rs2306947 MUC7 AD NM_152291 exon2 c.54+54G>A 0.182907 0.2044 0.172142 Uncertain 4_71346701_C->G 4 71346701 71346701 C G snp 2991.77 0/1 99 250 139 111 0.44 exonic rs6826961 MUC7 AD nonsynonymous SNV NM_152291 exon3 c.C240G p.N80K 0.310304 0.4077 0.257650 0.2726 0.3666 0.64 T 0.0 P -0.949 T 0.006 T 0.005 T Pathogenic 4_71384488_C->T 4 71384488 71384488 C T snp 3106.77 1/1 99 108 0 108 1.0 UTR5 rs28674149 AMTN AU 0.897364 0.7956 0.925188 0.8888 0.7832 Uncertain 4_71384579_G->A 4 71384579 71384579 G A snp 1959.77 0/1 99 191 102 89 0.47 intronic rs35692424 AMTN AU NM_212557 exon2 c.54+31G>A 0.272764 0.1994 0.352914 0.3695 0.2156 Uncertain 4_71384780_A->G 4 71384780 71384780 A G snp 83.77 0/1 30 4 1 3 0.75 intronic rs35367033 AMTN AU NM_212557 exon2 c.54+232A>G 0.203275 0.2054 Uncertain 4_71388379_A->T 4 71388379 71388379 A T snp 1068.77 0/1 99 93 46 47 0.51 intronic rs28754427 AMTN AU NM_212557 exon3 c.3977-92A>T 0.355431 0.1994 Uncertain 4_71388394_T->G 4 71388394 71388394 T G snp 3415.77 1/1 99 118 0 118 1.0 intronic rs4123809 AMTN AU NM_212557 exon3 c.3977-77T>G 0.614217 0.4067 Uncertain 4_71389497_C->G 4 71389497 71389497 C G snp 1531.77 0/1 99 139 71 68 0.49 intronic rs3912756 AMTN AU NM_212557 exon4 c.5090-87C>G 0.258786 0.2073 Uncertain 4_71389669_T->C 4 71389669 71389669 T C snp 1174.77 0/1 99 95 49 46 0.48 intronic rs3912755 AMTN AU NM_212557 exon4 c.5156+19T>C 0.258786 0.2073 0.243272 0.1912 0.1714 Uncertain 4_71390795_C->A 4 71390795 71390795 C A snp 503.77 0/1 99 44 26 18 0.41 intronic rs17733287 AMTN AU NM_212557 exon5 c.6184+117C>A 0.329073 0.2014 Uncertain 4_71390891_T->C 4 71390891 71390891 T C snp 50.74 1/1 6 2 0 2 1.0 intronic rs28714353 AMTN AU NM_212557 exon5 c.6184+213T>C 0.905751 0.7976 Uncertain 4_71394665_A->G 4 71394665 71394665 A G snp 54.74 1/1 6 2 0 2 1.0 intronic rs28485286 AMTN AU NM_212557 exon6 c.9981+190A>G 0.273163 0.2004 Uncertain 4_71396989_C->T 4 71396989 71396989 C T snp 1026.77 0/1 99 83 40 43 0.52 exonic rs17676820 AMTN AU synonymous SNV NM_001286731 exon8 c.C588T p.I196I 0.273762 0.1994 0.353298 0.3700 0.2156 Uncertain 4_71397957_C->T 4 71397957 71397957 C T snp 178.9 1/1 15 6 0 6 1.0 intronic rs3864160 AMTN AU NM_212557 exon9 c.13677-214C>T 0.532348 0.4067 Uncertain 4_71398064_G->A 4 71398064 71398064 G A snp 181.77 0/1 99 26 17 9 0.35 intronic rs3852099 AMTN AU NM_212557 exon9 c.13677-107G>A 0.273562 0.1994 Uncertain 4_71509879_C->T 4 71509879 71509879 C T snp 2230.77 0/1 99 158 69 89 0.56 exonic rs143333113 ENAM AR,AD synonymous SNV NM_031889 exon9 c.C2736T p.D912D 0.000199681 0.001 0.000077 0.0004 0.0049 ID=COSM195569;OCCURENCE=1(large_intestine),1(central_nervous_system) Uncertain 4_71630161_T->C 4 71630161 71630161 T C snp 839.77 0/1 99 85 46 39 0.46 intronic rs2278134 RUFY3 AU NM_001037442 exon4 c.41901-30T>C 0.0948482 0.2113 0.036675 0.0523 0.2096 Uncertain 4_71634577_T->C 4 71634577 71634577 T C snp 146.77 0/1 99 9 4 5 0.56 intronic rs73824891 RUFY3 AU NM_001037442 exon5 c.46088+199T>C 0.121805 0.2113 Uncertain 4_71639208_C->G 4 71639208 71639208 C G snp 479.77 0/1 99 48 29 19 0.4 intronic rs76427219 RUFY3 AU NM_001037442 exon6 c.50937-19C>G 0.0904553 0.2113 0.033379 0.0563 0.2276 Uncertain 4_71639349_G->A 4 71639349 71639349 G A snp 345.77 0/1 99 42 25 17 0.4 intronic rs28750133 RUFY3 AU NM_001037442 exon6 c.50999+60G>A 0.232628 0.2123 0.167178 Uncertain 4_71643982_A->G 4 71643982 71643982 A G snp 237.84 0/1 18 9 1 8 0.89 intronic rs77703780 RUFY3 AU NM_001037442 exon8 c.55795-103A>G 0.0888578 0.2113 Uncertain 4_71644171_G->T 4 71644171 71644171 G T snp 481.77 0/1 99 36 15 21 0.58 intronic rs16845439 RUFY3 AU NM_001037442 exon8 c.55865+16G>T 0.115815 0.2113 0.059308 0.0683 0.2093 Uncertain 4_71659634_T->C 4 71659634 71659634 T C snp 291.77 0/1 99 29 17 12 0.41 intronic rs59183938 RUFY3 AU NM_001037442 exon13 c.71331+13T>C 0.115216 0.2103 0.059588 0.0688 0.2094 Uncertain 4_71659768_G->A 4 71659768 71659768 G A snp 46.77 0/1 33 3 1 2 0.67 intronic rs58010457 RUFY3 AU NM_001037442 exon13 c.71331+147G>A 0.115216 0.2103 Uncertain 4_71665679_A->G 4 71665679 71665679 A G snp 225.84 1/1 18 7 0 7 1.0 intronic rs55821023 RUFY3 AU NM_001037442 exon15 c.77567-178A>G 0.115216 0.2103 Uncertain 4_71668571_T->A 4 71668571 71668571 T A snp 485.77 0/1 99 41 24 17 0.41 intronic rs149283324 RUFY3 AU NM_001037442 exon16 c.80382-101T>A 0.0249601 0.0347 Uncertain 4_71690221_A->G 4 71690221 71690221 A G snp 256.8 1/1 21 7 0 7 1.0 intronic rs13108088 GRSF1 AU NM_002092 exon2 c.50+136A>G 0.896765 0.999 Uncertain 4_71691743_C->T 4 71691743 71691743 C T snp 1542.77 1/1 99 44 0 44 1.0 intronic rs6814981 GRSF1 AU NM_002092 exon4 c.1805-97C>T 0.892372 0.999 Uncertain 4_71697510_T->C 4 71697510 71697510 T C snp 222.84 1/1 18 6 0 6 1.0 intronic rs4694080 GRSF1 AU NM_002092 exon6 c.7356+119T>C 0.882588 0.999 Uncertain 4_71698183_C->A 4 71698183 71698183 C A snp 4286.77 1/1 99 150 1 149 0.99 intronic rs4694081 GRSF1 AU NM_002092 exon7 c.8132+16C>A 0.986022 1 0.985751 0.9966 1 Uncertain 4_71704965_C->T 4 71704965 71704965 C T snp 4439.77 1/1 99 175 2 173 0.99 UTR5 rs3775728 GRSF1 AU 0.903355 0.8413 0.9507 0.8380 0.37 T 0.004 P -0.987 T Uncertain 4_71705262_A->G 4 71705262 71705262 A G snp 667.77 1/1 48 26 0 26 1.0 exonic rs6813092 GRSF1 AU nonsynonymous SNV NM_002092 exon1 c.T283C p.S95P 0.98742 1 0.9993 1 0.48 T 0.000 P -1.027 T 0.0 T 0.0 T Pathogenic 4_71768079_C->G 4 71768079 71768079 C G snp 732.77 0/1 99 57 26 31 0.54 UTR5 rs1871048 MOB1B AU 0.928714 0.9573 Uncertain 4_71835822_G->A 4 71835822 71835822 G A snp 247.77 0/1 99 16 5 11 0.69 intronic rs7674402 MOB1B AU NM_001244767 exon3 c.67488+81G>A 0.250998 0.1964 Uncertain 4_71864013_A->G 4 71864013 71864013 A G snp 127.03 1/1 12 5 0 5 1.0 intronic rs6446988 DCK AU NM_000788 exon2 c.4347+114A>G 0.78734 0.9603 Uncertain 4_71888240_C->T 4 71888240 71888240 C T snp 1746.77 0/1 99 143 66 77 0.54 exonic rs67437265 DCK AU nonsynonymous SNV NM_000788 exon3 c.C364T p.P122S 0.0329473 0.0387 0.022759 0.0191 0.0494 1.000 P 0.188 D 1.0 D 0.995 D ID=CM076146;DIS=Reduced activity;TAG=FP;PUB=17855478 FP Pathogenic 4_71892513_A->T 4 71892513 71892513 A T snp 715.77 0/1 99 72 38 34 0.47 intronic rs1486271 DCK AU NM_000788 exon6 c.32920+41A>T 0.786941 0.9603 0.793085 0.9195 0.9498 Uncertain 4_71894476_-->T 4 71894476 71894476 - T indel 68.87 1/1 15 9 0 9 1.0 intronic rs11394166 DCK AU NM_000788 exon7 c.35516-592insT 0.739617 0.7688 0.6667 0.5 Uncertain 4_71895260_C->T 4 71895260 71895260 C T snp 44.77 0/1 33 3 1 2 0.67 UTR3 rs4643786 DCK AU 0.786142 0.9603 Uncertain 4_72120854_C->A 4 72120854 72120854 C A snp 40.77 0/1 69 6 4 2 0.33 intergenic rs4694387 DCK AU 0.273962 0.4395 Uncertain 4_72121163_A->G 4 72121163 72121163 A G snp 331.77 0/1 99 28 15 13 0.46 intergenic rs4694388 DCK AU 0.285543 0.4385 0.154670 0.2014 0.4437 Uncertain 4_72306223_C->A 4 72306223 72306223 C A snp 613.77 0/1 99 34 11 23 0.68 intronic rs34445073 SLC4A4 AR NM_001134742 exon8 c.204039-109C>A 0.267772 0.2292 Uncertain 4_72306560_A->T 4 72306560 72306560 A T snp 119.77 0/1 99 7 3 4 0.57 intronic rs13149784 SLC4A4 AR NM_001134742 exon8 c.204197+70A>T 0.267772 0.2292 Uncertain 4_72316822_C->T 4 72316822 72316822 C T snp 603.77 1/1 45 20 0 20 1.0 intronic rs10022349 SLC4A4 AR NM_001134742 exon11 c.214611-82C>T 0.989417 0.9851 Uncertain 4_72316967_G->A 4 72316967 72316967 G A snp 1155.77 0/1 99 104 53 51 0.49 exonic rs148635969 SLC4A4 AR nonsynonymous SNV NM_003759 exon8 c.G1139A p.G380D 0.00419329 0.0099 0.000461 0.0031 0.0113 0.49 T 1 D -0.287 T 0.992 D 0.922 D ID=COSM328670,COSM328669;OCCURENCE=1(liver),1(large_intestine) Pathogenic 4_72397710_C->T 4 72397710 72397710 C T snp 319.77 0/1 99 27 15 12 0.44 intronic rs3775162 SLC4A4 AR NM_001134742 exon17 c.295485-68C>T 0.372204 0.1022 Uncertain 4_72397964_T->C 4 72397964 72397964 T C snp 2728.77 1/1 99 92 0 92 1.0 intronic rs10446504 SLC4A4 AR NM_001134742 exon17 c.295599+72T>C 0.709864 0.5794 Uncertain 4_72411967_A->G 4 72411967 72411967 A G snp 636.77 1/1 48 18 0 18 1.0 intronic rs4694097 SLC4A4 AR NM_001134742 exon19 c.309773-99A>G 0.959465 1 Uncertain 4_72412029_G->A 4 72412029 72412029 G A snp 919.77 0/1 99 65 28 37 0.57 intronic rs3733362 SLC4A4 AR NM_001134742 exon19 c.309773-37G>A 0.300519 0.4762 0.165385 0.1680 0.4879 Uncertain 4_72423624_C->T 4 72423624 72423624 C T snp 3917.77 1/1 99 143 0 143 1.0 intronic rs1453474 SLC4A4 AR NM_001134742 exon22 c.321309+22C>T 0.786342 0.744 0.859505 0.8911 0.7539 Uncertain 4_72425863_C->T 4 72425863 72425863 C T snp 3671.77 1/1 99 135 0 135 1.0 exonic rs1453458 SLC4A4 AR synonymous SNV NM_003759 exon20 c.C2859T p.H953H 0.782348 0.75 0.856989 0.8891 0.7562 Uncertain 4_72429371_G->A 4 72429371 72429371 G A snp 99.28 1/1 9 3 0 3 1.0 intronic rs2290399 SLC4A4 AR NM_003759 exon21 c.224544-138G>A 0.794728 0.75 Uncertain 4_72429409_A->G 4 72429409 72429409 A G snp 606.77 1/1 48 16 0 16 1.0 intronic rs2290398 SLC4A4 AR NM_003759 exon21 c.224544-100A>G 0.788538 0.75 Uncertain 4_72429452_G->A 4 72429452 72429452 G A snp 1660.77 1/1 99 46 0 46 1.0 intronic rs2290397 SLC4A4 AR NM_003759 exon21 c.224544-57G>A 0.787141 0.75 Uncertain 4_72432991_A->C 4 72432991 72432991 A C snp 391.77 1/1 30 11 0 11 1.0 intronic rs965606 SLC4A4 AR NM_001134742 exon24 c.330507+191A>C 0.888179 0.9653 Uncertain 4_72433643_G->- 4 72433643 72433643 G - indel 1181.73 1/1 81 27 0 27 1.0 UTR3 rs138389345 SLC4A4 AR 0.243211 0.5387 0.144599 0.2245 0.5535 Uncertain 4_72607678_T->G 4 72607678 72607678 T G snp 854.77 0/1 99 52 21 31 0.6 intronic rs2070741 GC AU 0.108027 0.1716 Uncertain 4_72618296_T->C 4 72618296 72618296 T C snp 2643.77 1/1 99 103 0 103 1.0 exonic rs9016 GC AU nonsynonymous SNV NM_000583 exon11 c.A1334G p.H445R 0.992812 1 0.993003 0.9980 1 1 T 0.0 P -0.965 T 0.0 T 0.0 T Pathogenic 4_72622403_A->C 4 72622403 72622403 A C snp 4297.77 1/1 99 151 0 151 1.0 intronic rs222033 GC AU NM_001204307 exon6 c.10536-25A>C 0.99381 1 0.993234 0.9981 1 Uncertain 4_72628969_G->A 4 72628969 72628969 G A snp 732.77 1/1 57 20 0 20 1.0 intronic rs2276461 GC AU NM_001204307 exon8 c.17232-155G>A 0.230431 0.4147 Uncertain 4_72649774_G->A 4 72649774 72649774 G A snp 4572.77 1/1 99 179 0 179 1.0 UTR5 rs3733359 GC AU 0.20647 0.3998 0.120790 0.1199 0.3837 Uncertain 4_72669491_G->C 4 72669491 72669491 G C snp 235.77 0/1 97 11 3 8 0.73 intergenic rs59662561 GC AU 0.168131 0.25 Uncertain 4_72934556_T->- 4 72934556 72934556 T - indel 61.75 0/1 23 7 2 5 0.71 intronic rs35549647 NPFFR2 AU NM_004885 exon1 c.299+36639delT Uncertain 4_72934578_-->T 4 72934578 72934578 - T indel 130.73 0/1 99 12 6 6 0.5 intronic rs11444220 NPFFR2 AU NM_004885 exon1 c.299+36661insT 0.840455 0.6815 Uncertain 4_72934632_C->T 4 72934632 72934632 C T snp 514.77 0/1 99 34 13 21 0.62 intronic rs9884478 NPFFR2 AU NM_004885 exon1 c.299+36715C>T 0.791534 0.5159 Uncertain 4_73175048_G->A 4 73175048 73175048 G A snp 535.77 0/1 99 30 12 18 0.6 intronic rs12501859 ADAMTS3 AU NM_014243 exon8 c.26261-65G>A 0.276757 0.4792 Uncertain 4_73175093_C->T 4 73175093 73175093 C T snp 2412.77 1/1 99 82 0 82 1.0 intronic rs10024487 ADAMTS3 AU NM_014243 exon8 c.26261-20C>T 0.988419 1 0.988928 0.9967 1 Uncertain 4_73414286_C->T 4 73414286 73414286 C T snp 1456.77 0/1 99 159 92 67 0.42 exonic rs788908 ADAMTS3 AU nonsynonymous SNV NM_014243 exon3 c.G413A p.R138K 0.642971 0.6677 0.684300 0.6015 0.6800 0.31 T 0.000 P -1.073 T 0.0 T 0.001 T Pathogenic 4_73433123_A->- 4 73433123 73433123 A - indel 2428.73 0/1 99 149 77 72 0.48 splicing rs33925079 ADAMTS3 AU NM_014243 exon21 c.284266+5delA 0.421925 0.3909 0.475164 0.5060 0.4538 Pathogenic 4_73433315_G->C 4 73433315 73433315 G C snp 1498.77 1/1 99 46 0 46 1.0 intronic rs6830556 ADAMTS3 AU NM_014243 exon21 c.284266+197G>C 0.958466 1 Uncertain 4_73433399_T->A 4 73433399 73433399 T A snp 56.74 1/1 6 2 0 2 1.0 intronic rs6814004 ADAMTS3 AU NM_014243 exon21 c.284266+281T>A 0.958466 1 Uncertain 4_73433400_G->C 4 73433400 73433400 G C snp 56.74 1/1 6 2 0 2 1.0 intronic rs6830744 ADAMTS3 AU NM_014243 exon21 c.284266+282G>C 0.958466 1 Uncertain 4_73434297_T->C 4 73434297 73434297 T C snp 300.77 0/1 99 21 9 12 0.57 intronic rs74626017 ADAMTS3 AU NM_014243 exon22 c.285558-113T>C 0.00499201 0.0248 Uncertain 4_73434380_T->- 4 73434380 73434380 T - indel 1828.73 1/1 99 62 0 62 1.0 intronic rs397993955 ADAMTS3 AU NM_014243 exon22 c.285558-30delT 0.955871 1 0.9865 0.9999 Uncertain 4_73434536_A->- 4 73434536 73434536 A - indel 397.73 0/1 99 38 19 19 0.5 upstream rs34234669 ADAMTS3 AU 0.340256 0.3889 Uncertain 4_73615956_C->T 4 73615956 73615956 C T snp 2106.77 0/1 99 239 140 99 0.41 intergenic rs1350836 ADAMTS3 AU 0.383986 0.4018 0.410708 0.4585 0.4023 Uncertain 4_73930552_G->A 4 73930552 73930552 G A snp 1563.77 1/1 73 65 2 63 0.97 exonic rs3762883 COX18 AU synonymous SNV NM_001300729 exon3 c.C672T p.P224P 0.341454 0.3879 0.363832 0.3959 0.3892 Uncertain 4_73930893_T->G 4 73930893 73930893 T G snp 30.77 0/1 59 15 11 4 0.27 intronic rs2126115 COX18 AU NM_001297733 exon4 c.7136-73T>G Uncertain 4_73933672_TGTGTGTG->- 4 73933672 73933679 TGTGTGTG - indel 5850.73 ./1 99 70 0 70 1.0 intronic rs556937696 COX18 AU NM_001297733 exon5 c.9915-73_9915-66delTGTGTGTG 0.0461262 0.0625 Uncertain 4_73933672_TGTGTG->- 4 73933672 73933677 TGTGTG - indel 5850.73 ./1 99 70 0 70 1.0 intronic rs71215481 COX18 AU NM_001297733 exon5 c.9915-73_9915-68delTGTGTG 0.351637 0.4266 Uncertain 4_73935042_G->A 4 73935042 73935042 G A snp 354.77 0/1 99 23 9 14 0.61 exonic rs78871269 COX18 AU synonymous SNV NM_001297732 exon1 c.C325T p.L109L 0.0121805 0.0585 0.0044 0.1029 Uncertain 4_73956736_G->A 4 73956736 73956736 G A snp 7200.77 1/1 99 242 0 242 1.0 exonic rs6855349 ANKRD17 AU synonymous SNV NM_198889 exon28 c.C5856T p.L1952L 0.351837 0.3849 0.369214 0.3936 0.3894 Uncertain 4_73991006_T->C 4 73991006 73991006 T C snp 2581.77 1/1 99 89 0 89 1.0 exonic rs6822576 ANKRD17 AU synonymous SNV NM_198889 exon16 c.A2505G p.A835A 0.997404 1 0.996309 0.9988 1 1.000 P Uncertain 4_74007870_A->G 4 74007870 74007870 A G snp 381.77 1/1 30 10 0 10 1.0 intronic rs12500051 ANKRD17 AU NM_001286771 exon22 c.66011-88A>G 0.337061 0.3869 Uncertain 4_74012462_A->T 4 74012462 74012462 A T snp 1718.77 1/1 99 55 0 55 1.0 intronic rs13149759 ANKRD17 AU NM_001286771 exon25 c.70533-18A>T 0.352835 0.3889 0.341741 0.4037 0.3946 Uncertain 4_74281012_T->A 4 74281012 74281012 T A snp 391.77 1/1 30 10 0 10 1.0 intronic rs6832260 ALB AU NM_000477 exon9 c.10840+128T>A 0.482827 0.5565 Uncertain 4_74282092_-->T 4 74282092 74282092 - T indel 494.73 1/1 53 22 0 22 1.0 intronic rs35807836 ALB AU NM_000477 exon10 c.12026+22insT 0.261182 0.4266 0.3350 0.4426 Uncertain 4_74285239_C->T 4 74285239 74285239 C T snp 1841.77 1/1 99 64 0 64 1.0 exonic rs962004 ALB AU synonymous SNV NM_000477 exon13 c.C1668T p.L556L 0.483427 0.5565 0.518302 0.5354 0.5749 0.245 P -0.914 T Likely benign 4_74302071_T->A 4 74302071 74302071 T A snp 322.78 1/1 24 13 0 13 1.0 intronic rs3796678 AFP AR,AD NM_001134 exon1 c.85+7T>A 0.5002 0.5774 0.525700 0.5392 0.5937 ID=CS104425;DIS=Hepatocellular carcinoma, increased risk, association with;TAG=DP;PUB=19968979 DP Uncertain 4_74302151_A->T 4 74302151 74302151 A T snp 56.74 1/1 6 2 0 2 1.0 intronic rs3796677 AFP AR,AD NM_001134 exon1 c.85+87A>T 0.500399 0.5774 Uncertain 4_74304118_T->A 4 74304118 74304118 T A snp 648.77 1/1 48 20 0 20 1.0 intronic rs6446932 AFP AR,AD NM_001134 exon3 c.2044+95T>A 0.980631 1 Uncertain 4_74306671_A->G 4 74306671 74306671 A G snp 227.84 1/1 18 7 0 7 1.0 intronic rs6857080 AFP AR,AD NM_001134 exon4 c.4551+141A>G 0.980431 1 Uncertain 4_74310844_A->G 4 74310844 74310844 A G snp 2598.77 1/1 99 105 0 105 1.0 splicing rs2298839 AFP AR,AD NM_001134 exon7 c.8860+5A>G 0.51238 0.6667 0.524604 0.5462 0.6867 ID=CS104426;DIS=Cirrhosis, association with;TAG=DP;PUB=19968979 DP Pathogenic 4_74313169_T->C 4 74313169 74313169 T C snp 475.77 1/1 36 14 0 14 1.0 intronic rs7667494 AFP AR,AD NM_001134 exon8 c.11199-9T>C 0.997204 1 0.997462 0.9994 1 Uncertain 4_74318330_A->G 4 74318330 74318330 A G snp 985.77 1/1 72 32 0 32 1.0 exonic rs4235117 AFP AR,AD synonymous SNV NM_001134 exon12 c.A1641G p.T547T 0.977037 1 0.979932 0.9938 0.9999 Uncertain 4_74349867_A->G 4 74349867 74349867 A G snp 594.77 1/1 45 17 0 17 1.0 intronic rs11939341 AFM AU NM_001133 exon3 c.2482-107A>G 0.554513 0.6369 Uncertain 4_74357851_A->G 4 74357851 74357851 A G snp 889.77 1/1 66 27 0 27 1.0 intronic rs11733262 AFM AU NM_001133 exon8 c.10311+48A>G 0.551917 0.6359 0.609715 0.6610 0.6583 Uncertain 4_74361254_T->C 4 74361254 74361254 T C snp 2665.77 1/1 99 91 0 91 1.0 intronic rs10212657 AFM AU NM_001133 exon9 c.13657+105T>C 0.554113 0.6359 Uncertain 4_74363489_C->A 4 74363489 74363489 C A snp 2115.77 0/1 99 156 64 92 0.59 intronic rs574145695 AFM AU NM_001133 exon10 c.15974+23C>A 0.000199681 0.001 0.0001 0.0017 Uncertain 4_74447417_C->G 4 74447417 74447417 C G snp 919.77 0/1 99 67 30 37 0.55 intronic rs1247669 RASSF6 AU NM_177532 exon4 c.5582-116C>G 0.179912 0.1994 Uncertain 4_74447452_C->T 4 74447452 74447452 C T snp 2652.77 1/1 99 99 0 99 1.0 intronic rs1247670 RASSF6 AU NM_177532 exon4 c.5582-81C>T 0.758586 0.8968 Uncertain 4_74447492_G->A 4 74447492 74447492 G A snp 1595.77 0/1 99 132 57 75 0.57 intronic rs2272427 RASSF6 AU NM_177532 exon4 c.5582-41G>A 0.100639 0.1885 0.072285 0.0747 0.2007 Uncertain 4_74447510_A->C 4 74447510 74447510 A C snp 3406.77 1/1 99 133 1 132 0.99 intronic rs1247671 RASSF6 AU NM_177532 exon4 c.5582-23A>C 0.767971 0.8968 0.745425 0.7661 0.9027 Uncertain 4_74453782_A->G 4 74453782 74453782 A G snp 467.77 0/1 99 26 12 14 0.54 intronic rs10009048 RASSF6 AU NM_177532 exon7 c.11700+131A>G 0.573283 0.6964 Uncertain 4_74453827_A->G 4 74453827 74453827 A G snp 99.28 1/1 9 3 0 3 1.0 intronic rs1247661 RASSF6 AU NM_177532 exon7 c.11700+176A>G 0.986821 0.999 Uncertain 4_74458987_C->T 4 74458987 74458987 C T snp 46.78 0/1 27 3 1 2 0.67 intronic rs34169741 RASSF6 AU NM_177532 exon8 c.17216-180C>T 0.282149 0.3661 Uncertain 4_74464285_-->TG 4 74464285 74464285 - TG indel 2504.73 0/1 99 75 9 66 0.88 intronic rs10632092 RASSF6 AU NM_177532 exon9 c.22405-71insTG 0.608826 0.6637 Uncertain 4_74464444_A->- 4 74464444 74464444 A - indel 606.73 1/1 60 20 0 20 1.0 intronic rs11368217 RASSF6 AU NM_177532 exon9 c.22484+9delA 0.979633 1 0.9931 0.9974 Uncertain 4_74485985_T->C 4 74485985 74485985 T C snp 269.8 1/1 21 8 0 8 1.0 intronic rs1534642 RASSF6 AU NM_177532 exon11 c.44053-19T>C 0.520767 0.6875 Uncertain 4_74486052_C->G 4 74486052 74486052 C G snp 1866.77 1/1 99 68 0 68 1.0 UTR5 rs1247591 RASSF6 AU 0.981629 0.998 Uncertain 4_74486245_C->T 4 74486245 74486245 C T snp 1281.77 0/1 99 114 62 52 0.46 UTR5 rs1919471 RASSF6 AU 0.124002 0.3036 0.055063 0.1087 0.3286 Uncertain 4_74486264_G->A 4 74486264 74486264 G A snp 3059.77 1/1 99 118 0 118 1.0 UTR5 rs1247590 RASSF6 AU 0.98722 1 0.988971 0.9965 1 Uncertain 4_74711842_C->T 4 74711842 74711842 C T snp 2249.77 1/1 99 88 0 88 1.0 intergenic rs34821794 CXCL6 AU 0.407348 0.5595 Uncertain 4_74713445_C->T 4 74713445 74713445 C T snp 558.77 1/1 42 14 0 14 1.0 intergenic rs1951230 CXCL6 AU 0.981829 1 Uncertain 4_74713950_T->C 4 74713950 74713950 T C snp 2998.77 1/1 99 88 0 88 1.0 intergenic rs7658970 CXCL6 AU 0.501398 0.6012 Uncertain 4_74714098_G->A 4 74714098 74714098 G A snp 7494.77 1/1 99 249 1 248 1.0 intergenic rs2367288 CXCL6 AU 0.501198 0.6002 0.541393 Uncertain 4_74718845_C->G 4 74718845 74718845 C G snp 371.77 1/1 30 10 0 10 1.0 upstream rs941757 PF4V1 AU 0.497005 0.6022 Uncertain 4_74718941_C->A 4 74718941 74718941 C A snp 2753.77 1/1 99 99 1 98 0.99 upstream rs941758 PF4V1 AU 0.493411 0.6012 Uncertain 4_74719925_G->A 4 74719925 74719925 G A snp 1185.77 1/1 87 39 0 39 1.0 UTR3 rs11723868 PF4V1 AU 0.904353 0.9861 Uncertain 4_74735150_G->T 4 74735150 74735150 G T snp 147.77 0/1 99 28 18 10 0.36 UTR5 rs11547681 CXCL1 AU 0.213059 0.3204 0.118085 0.2181 0.3656 Uncertain 4_74735244_A->G 4 74735244 74735244 A G snp 452.77 0/1 99 41 21 20 0.49 exonic rs2071425 CXCL1 AU synonymous SNV NM_001511 exon1 c.A57G p.A19A 0.377995 0.3859 0.255898 0.3639 0.4924 Uncertain 4_74736144_A->G 4 74736144 74736144 A G snp 1709.77 0/1 99 175 94 81 0.46 intronic rs4074 CXCL1 AU NM_001511 exon4 c.1050-93A>G 0.404353 0.5794 Uncertain 4_74847292_G->C 4 74847292 74847292 G C snp 1284.77 1/1 93 45 0 45 1.0 intronic rs352007 PF4 AU NM_002619 exon2 c.340+32G>C 0.806909 0.9643 0.787867 0.8702 0.9672 Uncertain 4_74863997_T->C 4 74863997 74863997 T C snp 7078.77 1/1 99 231 0 231 1.0 exonic rs425535 CXCL5 AU synonymous SNV NM_002994 exon2 c.A168G p.Q56Q 0.813099 0.9643 0.791020 0.8694 0.9671 ID=CM068447;DIS=Increased ENA-78 plasma levels;TAG=FP;PUB=16567110 FP Uncertain 4_74903134_T->C 4 74903134 74903134 T C snp 116.77 0/1 99 9 5 4 0.44 intronic rs370655 CXCL3 AU NM_002090 exon1 c.16+140T>C 0.443291 0.495 Uncertain 4_75023609_T->C 4 75023609 75023609 T C snp 6192.77 1/1 99 223 0 223 1.0 upstream rs6840665 MTHFD2L AU 0.986222 1 0.9964 1 Uncertain 4_75023709_C->T 4 75023709 75023709 C T snp 6688.77 1/1 99 235 0 235 1.0 upstream rs2289443 MTHFD2L AU 0.694289 0.8244 0.8445 0.7980 Uncertain 4_75040944_T->G 4 75040944 75040944 T G snp 5681.77 1/1 99 202 0 202 1.0 intronic rs13116686 MTHFD2L AU NM_001144978 exon3 c.17142-53T>G 0.721845 0.8403 Uncertain 4_75046310_A->C 4 75046310 75046310 A C snp 1512.77 1/1 99 50 0 50 1.0 intronic rs4694183 MTHFD2L AU NM_001144978 exon3 c.17265+5190A>C 0.723842 0.8492 Uncertain 4_75046372_A->G 4 75046372 75046372 A G snp 3981.77 1/1 99 147 0 147 1.0 intronic rs561583 MTHFD2L AU NM_001144978 exon3 c.17265+5252A>G 0.993011 1 0.9983 1 Uncertain 4_75046465_C->G 4 75046465 75046465 C G snp 4995.77 1/1 99 191 0 191 1.0 intronic rs561844 MTHFD2L AU NM_001144978 exon3 c.17265+5345C>G 0.999601 1 0.9997 1 Uncertain 4_75107255_T->C 4 75107255 75107255 T C snp 978.77 1/1 69 37 0 37 1.0 intronic rs4694184 MTHFD2L AU NM_001144978 exon6 c.67256+16144T>C 0.595847 0.7361 0.7763 0.7231 Uncertain 4_75245343_T->A 4 75245343 75245343 T A snp 343.78 1/1 27 12 0 12 1.0 intronic rs7660209 EREG AU NM_001432 exon2 c.14226+92T>A 0.810503 0.8839 Uncertain 4_75482263_A->G 4 75482263 75482263 A G snp 220.84 1/1 18 11 1 10 0.91 intronic rs1494868 AREG AU NM_001657 exon2 c.1416+9A>G 0.9851 0.9993 Uncertain 4_75675858_T->C 4 75675858 75675858 T C snp 2217.77 0/1 99 200 102 98 0.49 exonic BTC AU nonsynonymous SNV NM_001729 exon4 c.A353G p.Q118R 3.295e-05 0.0005 0.25 T 0.919 D -0.971 T 0.96 D 0.737 D Pathogenic 4_75681217_A->G 4 75681217 75681217 A G snp 3676.77 1/1 99 143 0 143 1.0 intronic BTC AU NM_001729 exon4 c.7936+31A>G 0.43131 0.629 0.375058 0.4268 0.6125 Uncertain 4_75938179_G->A 4 75938179 75938179 G A snp 3143.77 0/1 99 236 107 129 0.55 exonic rs3775527 PARM1 AU synonymous SNV NM_015393 exon2 c.G588A p.P196P 0.319289 0.1627 0.373730 0.3786 0.1664 Uncertain 4_75938236_A->G 4 75938236 75938236 A G snp 2241.77 0/1 99 158 79 79 0.5 exonic rs1062293 PARM1 AU synonymous SNV NM_015393 exon2 c.A645G p.V215V 0.413738 0.2143 0.473970 0.4586 0.2102 Uncertain 4_75938373_C->G 4 75938373 75938373 C G snp 512.77 0/1 99 50 29 21 0.42 intronic rs919052 PARM1 AU NM_015393 exon2 c.79823+13C>G 0.410343 0.2143 0.469199 0.4566 0.2105 Uncertain 4_76649924_C->G 4 76649924 76649924 C G snp 778.77 1/1 57 27 0 27 1.0 UTR5 rs2280095 USO1 AU 0.904353 0.9157 Uncertain 4_76650176_C->G 4 76650176 76650176 C G snp 620.77 1/1 48 19 0 19 1.0 intronic rs7657871 USO1 AU NM_001290049 exon1 c.66+107C>G 0.903954 0.9147 0.8955 0.9197 Uncertain 4_76670180_T->C 4 76670180 76670180 T C snp 7204.77 1/1 99 250 0 250 1.0 intronic rs3853184 USO1 AU NM_001290049 exon2 c.28645-8468T>C 0.911142 0.9107 0.904293 Uncertain 4_76676464_T->G 4 76676464 76676464 T G snp 258.8 1/1 21 7 0 7 1.0 intronic rs7665517 USO1 AU NM_001290049 exon2 c.28645-2184T>G 0.535942 0.7966 Uncertain 4_76678576_A->G 4 76678576 76678576 A G snp 833.77 1/1 60 32 0 32 1.0 intronic rs4859552 USO1 AU NM_001290049 exon2 c.28645-72A>G 0.544728 0.7966 Uncertain 4_76691828_G->C 4 76691828 76691828 G C snp 545.77 1/1 42 16 0 16 1.0 intronic rs324715 USO1 AU NM_001290049 exon4 c.41689+136G>C 0.909145 0.9107 Uncertain 4_76695811_TCTC->- 4 76695811 76695814 TCTC - indel 3295.73 1/1 99 47 0 47 1.0 intronic rs10588680 USO1 AU NM_001290049 exon7 c.45825-17_45825-14delTCTC 0.535543 0.7966 0.491521 0.5974 0.8221 Uncertain 4_76720885_T->C 4 76720885 76720885 T C snp 2119.77 1/1 99 76 0 76 1.0 exonic rs13119659 USO1 AU unknown 0.752796 0.8988 0.674744 0.7160 0.9006 0.56 T 1.0 P -0.997 T Uncertain 4_76721414_C->G 4 76721414 76721414 C G snp 1872.77 1/1 99 60 0 60 1.0 intronic rs13145290 USO1 AU NM_001290049 exon15 c.71500-89C>G 0.561701 0.7966 Uncertain 4_76721459_G->A 4 76721459 76721459 G A snp 4301.77 1/1 99 147 0 147 1.0 intronic rs4859409 USO1 AU NM_001290049 exon15 c.71500-44G>A 0.561701 0.7966 0.527873 0.5908 0.8006 Uncertain 4_76721705_C->G 4 76721705 76721705 C G snp 540.77 1/1 45 23 0 23 1.0 intronic rs2271472 USO1 AU NM_001290049 exon16 c.71767-65C>G 0.561701 0.7966 Uncertain 4_76722041_G->A 4 76722041 76722041 G A snp 974.77 1/1 72 31 0 31 1.0 intronic rs324727 USO1 AU NM_001290049 exon16 c.71949+89G>A 0.652556 0.8859 Uncertain 4_76722353_G->A 4 76722353 76722353 G A snp 2019.77 1/1 99 79 0 79 1.0 exonic rs324726 USO1 AU unknown 0.652556 0.8859 0.630493 0.7183 0.9227 1.0 P -1.019 T Uncertain 4_76722422_T->C 4 76722422 76722422 T C snp 1342.77 1/1 96 48 0 48 1.0 intronic rs13133472 USO1 AU NM_001290049 exon17 c.72350+69T>C 0.544329 0.7966 Uncertain 4_76725245_G->T 4 76725245 76725245 G T snp 2466.77 1/1 99 76 1 75 0.99 intronic rs381067 USO1 AU NM_001290049 exon18 c.75283-41G>T 0.952875 1 0.954653 0.9870 1 Uncertain 4_76726528_T->C 4 76726528 76726528 T C snp 48.74 1/1 6 2 0 2 1.0 intronic rs11733253 USO1 AU NM_001290049 exon19 c.76453+72T>C 0.561102 0.7966 Uncertain 4_76727577_T->- 4 76727577 76727577 T - indel 707.73 1/1 69 23 0 23 1.0 intronic rs11312984 USO1 AU NM_001290049 exon20 c.77635-61delT 0.561901 0.7956 Uncertain 4_76730004_G->C 4 76730004 76730004 G C snp 180.9 1/1 15 6 0 6 1.0 intronic rs324687 USO1 AU NM_001290049 exon21 c.80102-101G>C 0.848842 0.9881 Uncertain 4_76730061_T->A 4 76730061 76730061 T A snp 895.77 1/1 66 29 0 29 1.0 intronic rs324688 USO1 AU NM_001290049 exon21 c.80102-44T>A 0.652556 0.8859 0.630602 0.7189 0.9154 Uncertain 4_76730258_T->C 4 76730258 76730258 T C snp 1554.77 1/1 99 54 0 54 1.0 intronic rs324690 USO1 AU NM_001290049 exon21 c.80201+54T>C 0.652556 0.8859 Uncertain 4_76730310_TTTAGATTACTTACTAGCCGG->- 4 76730310 76730330 TTTAGATTACTTACTAGCCGG - indel 2144.74 1/1 27 14 0 14 1.0 intronic rs11272122 USO1 AU NM_001290049 exon21 c.80201+106_80201+126delTTTAGATTACTTACTAGCCGG 0.652556 0.8859 Uncertain 4_76730373_T->C 4 76730373 76730373 T C snp 182.9 1/1 15 6 0 6 1.0 intronic rs324691 USO1 AU NM_001290049 exon21 c.80201+169T>C 0.652556 0.8859 Uncertain 4_76734343_C->T 4 76734343 76734343 C T snp 1345.77 1/1 96 49 0 49 1.0 intronic rs17284996 USO1 AU NM_001290049 exon24 c.84355-15C>T 0.385184 0.75 0.266363 0.3921 0.7787 Uncertain 4_76785716_C->T 4 76785716 76785716 C T snp 916.77 1/1 66 30 0 30 1.0 intronic rs1394913 PPEF2 AU NM_006239 exon2 c.3861+36C>T 0.991014 1 0.990848 0.9975 1 Uncertain 4_76785723_A->G 4 76785723 76785723 A G snp 905.77 1/1 66 28 0 28 1.0 intronic rs1394914 PPEF2 AU NM_006239 exon2 c.3861+43A>G 0.991014 1 0.990848 0.9975 1 Uncertain 4_76785736_T->C 4 76785736 76785736 T C snp 647.77 1/1 48 19 0 19 1.0 intronic rs1394915 PPEF2 AU NM_006239 exon2 c.3861+56T>C 0.990615 1 0.991459 Uncertain 4_76787673_T->C 4 76787673 76787673 T C snp 2226.77 1/1 99 68 0 68 1.0 intronic rs7654738 PPEF2 AU NM_006239 exon3 c.5686+168T>C 0.861422 0.9921 0.9721 0.9942 0.0 P Uncertain 4_76788692_C->T 4 76788692 76788692 C T snp 431.77 1/1 33 12 0 12 1.0 intronic rs2135234 PPEF2 AU NM_006239 exon4 c.6753+120C>T 0.990615 1 Uncertain 4_76793228_A->G 4 76793228 76793228 A G snp 3553.77 1/1 99 135 0 135 1.0 exonic rs1394916 PPEF2 AU synonymous SNV NM_006239 exon13 c.T1599C p.I533I 0.990815 1 0.990850 0.9975 1 Uncertain 4_76794345_T->G 4 76794345 76794345 T G snp 6873.77 1/1 99 250 0 250 1.0 exonic rs6858658 PPEF2 AU nonsynonymous SNV NM_006239 exon12 c.A1441C p.M481L 0.998802 1 0.999000 0.9997 1 1 T 0.0 P -0.953 T 0.0 T 0.001 T Pathogenic 4_76800729_A->G 4 76800729 76800729 A G snp 99.28 1/1 9 4 0 4 1.0 intronic rs13130621 PPEF2 AU NM_006239 exon7 c.16007+2903A>G 0.845847 0.9871 Uncertain 4_76804067_A->G 4 76804067 76804067 A G snp 4798.77 1/1 99 181 0 181 1.0 intronic rs4859564 PPEF2 AU NM_006239 exon8 c.22259-11A>G 0.844449 0.9911 0.837844 0.9503 0.9948 Uncertain 4_76805902_C->T 4 76805902 76805902 C T snp 2774.77 1/1 99 104 0 104 1.0 exonic rs1976518 PPEF2 AU synonymous SNV NM_006239 exon8 c.G591A p.P197P 0.86222 0.9891 0.850223 0.9494 0.9934 Uncertain 4_76805962_G->A 4 76805962 76805962 G A snp 2377.77 1/1 99 88 0 88 1.0 intronic rs1976517 PPEF2 AU NM_006239 exon10 c.24094+49G>A 0.86242 0.9891 0.849070 0.9475 0.9934 Uncertain 4_76805978_C->T 4 76805978 76805978 C T snp 2055.77 1/1 99 70 0 70 1.0 intronic rs1566975 PPEF2 AU NM_006239 exon10 c.24094+65C>T 0.86222 0.9891 Uncertain 4_76809319_A->G 4 76809319 76809319 A G snp 1582.77 1/1 99 51 0 51 1.0 intronic rs7691712 PPEF2 AU NM_006239 exon12 c.27547-47A>G 0.872804 0.9891 0.865216 0.9583 0.9935 Uncertain 4_76809386_A->G 4 76809386 76809386 A G snp 2770.77 1/1 99 106 0 106 1.0 exonic rs7691755 PPEF2 AU synonymous SNV NM_006239 exon6 c.T513C p.S171S 0.995008 1 0.995233 0.9985 1 Uncertain 4_76809569_C->T 4 76809569 76809569 C T snp 1257.77 1/1 90 44 0 44 1.0 intronic rs2280100 PPEF2 AU NM_006239 exon12 c.27662+88C>T 0.290535 0.5377 Uncertain 4_76812673_C->G 4 76812673 76812673 C G snp 181.9 1/1 15 7 0 7 1.0 intronic rs13116688 PPEF2 AU NM_006239 exon14 c.30981-127C>G 0.796126 0.9921 Uncertain 4_76836137_A->G 4 76836137 76836137 A G snp 2512.77 1/1 99 102 0 102 1.0 exonic rs6823734 NAAA AU nonsynonymous SNV NM_014435 exon10 c.T1000C p.F334L 0.744409 0.5387 0.770432 0.7107 0.5287 0.65 T 0.0 P -0.937 T 0.0 T 0.0 T Pathogenic 4_76838930_AA->- 4 76838930 76838931 AA - indel 449.73 ./1 99 21 1 20 0.95 intronic rs752142851 NAAA AU NM_014435 exon3 c.3857-983_3857-982delAA 0.1303 0.0985 Uncertain 4_76838930_A->- 4 76838930 76838930 A - indel 449.73 ./1 99 21 1 20 0.95 intronic rs34444403 NAAA AU NM_014435 exon3 c.3857-983delA 0.384784 0.4901 0.4082 0.4621 Uncertain 4_76841748_A->G 4 76841748 76841748 A G snp 643.77 1/1 48 19 0 19 1.0 intronic rs2280101 NAAA AU NM_014435 exon5 c.5834-142A>G 0.742612 0.5387 Uncertain 4_76846676_C->T 4 76846676 76846676 C T snp 216.84 1/1 18 6 0 6 1.0 intronic rs905956 NAAA AU NM_014435 exon7 c.10831-211C>T 0.666534 0.5476 Uncertain 4_76846755_T->C 4 76846755 76846755 T C snp 1491.77 1/1 99 48 0 48 1.0 intronic rs937788 NAAA AU NM_014435 exon7 c.10831-132T>C 0.538339 0.504 Uncertain 4_76857149_T->- 4 76857149 76857149 T - indel 403.73 0/1 99 21 7 14 0.67 intronic rs138725752 NAAA AU NM_014435 exon9 c.21205-112delT 0.217851 0.3581 Uncertain 4_76857150_T->C 4 76857150 76857150 T C snp 509.77 0/1 99 23 8 15 0.65 intronic rs200169565 NAAA AU NM_014435 exon9 c.21205-111T>C 0.217851 0.3581 Uncertain 4_76857164_C->T 4 76857164 76857164 C T snp 934.77 0/1 99 49 18 31 0.63 intronic rs4859570 NAAA AU NM_014435 exon9 c.21205-97C>T 0.217851 0.3581 Uncertain 4_76857309_C->T 4 76857309 76857309 C T snp 2365.77 0/1 99 247 143 104 0.42 exonic rs4859571 NAAA AU nonsynonymous SNV NM_001042402 exon3 c.G451A p.V151I 0.218051 0.3581 0.193500 0.2367 0.3575 0.48 T 0.0 P -1.044 T 0.002 T 0.003 T Pathogenic 4_76857388_C->T 4 76857388 76857388 C T snp 1636.77 0/1 99 178 107 71 0.4 exonic rs4859572 NAAA AU synonymous SNV NM_001042402 exon3 c.G372A p.V124V 0.217851 0.3581 0.194295 0.2374 0.3562 Uncertain 4_76857395_A->G 4 76857395 76857395 A G snp 1310.77 0/1 99 161 100 61 0.38 intronic rs4859573 NAAA AU NM_014435 exon9 c.21332+7A>G 0.217851 0.3581 0.193241 0.2376 0.3568 Uncertain 4_76861137_G->C 4 76861137 76861137 G C snp 2046.77 1/1 99 70 0 70 1.0 intronic rs6847716 NAAA AU NM_014435 exon10 c.25097-16G>C 0.808906 0.9435 0.810310 0.8828 0.9403 Uncertain 4_76877402_G->A 4 76877402 76877402 G A snp 1754.77 1/1 99 56 0 56 1.0 intronic rs9790644 SDAD1 AU NM_018115 exon2 c.5387+113G>A 0.509784 0.87 Uncertain 4_76878688_G->A 4 76878688 76878688 G A snp 1243.77 0/1 99 100 46 54 0.54 exonic rs2242470 SDAD1 AU synonymous SNV NM_001288983 exon18 c.C1641T p.D547D 0.227636 0.3641 0.206981 0.2506 0.3803 Uncertain 4_76881233_G->T 4 76881233 76881233 G T snp 39.77 0/1 68 11 7 4 0.36 exonic rs34627298 SDAD1 AU nonsynonymous SNV NM_001288983 exon16 c.C1358A p.A453D 0.0954473 0.123 0.072274 0.1048 0.1183 0.63 T 0.0 P -0.952 T 0.001 T 0.001 T Pathogenic 4_76881392_C->T 4 76881392 76881392 C T snp 184.77 0/1 99 30 19 11 0.37 intronic rs67906710 SDAD1 AU NM_018115 exon6 c.9443+47C>T 0.272364 0.506 0.213187 0.2660 0.4978 Uncertain 4_76881401_T->C 4 76881401 76881401 T C snp 363.77 0/1 99 27 10 17 0.63 intronic rs4859577 SDAD1 AU NM_018115 exon6 c.9443+56T>C 0.228834 0.3641 Uncertain 4_76885423_T->C 4 76885423 76885423 T C snp 1134.77 0/1 99 92 45 47 0.51 intronic rs2271527 SDAD1 AU NM_018115 exon9 c.13462+59T>C 0.272364 0.506 0.210688 Uncertain 4_76888235_A->G 4 76888235 76888235 A G snp 418.77 0/1 99 22 9 13 0.59 intronic rs12648437 SDAD1 AU NM_018115 exon11 c.16527-194A>G 0.256589 0.506 Uncertain 4_76902739_A->G 4 76902739 76902739 A G snp 34.77 0/1 63 5 3 2 0.4 ncRNA_intronic rs3733238 LOC101928809 AU 0.207668 0.3661 0.2580 0.4299 Uncertain 4_76903295_G->C 4 76903295 76903295 G C snp 635.77 0/1 99 55 28 27 0.49 ncRNA_intronic rs10021434 LOC101928809 AU 0.229233 0.3661 Uncertain 4_76911752_G->A 4 76911752 76911752 G A snp 396.77 0/1 99 38 22 16 0.42 ncRNA_intronic rs34740469 LOC101928809 AU 0.207268 0.3641 Uncertain 4_76928428_C->T 4 76928428 76928428 C T snp 974.77 0/1 99 72 37 35 0.49 intronic rs2276886 CXCL9 AU NM_002416 exon4 c.3788-110C>T 0.20647 0.372 Uncertain 4_76928729_A->G 4 76928729 76928729 A G snp 478.77 0/1 99 21 6 15 0.71 upstream rs2276885 CXCL9 AU 0.229832 0.4762 Uncertain 4_76942943_C->G 4 76942943 76942943 C G snp 3233.06 1/1 99 115 0 115 1.0 UTR3 rs3921 CXCL10 AU 0.692492 0.9375 Uncertain 4_76943137_G->C 4 76943137 76943137 G C snp 2799.77 1/1 99 96 0 96 1.0 intronic rs4859584 ART3 AU 0.691094 0.9375 0.611004 0.6058 0.9493 Uncertain 4_76943235_T->C 4 76943235 76943235 T C snp 435.77 1/1 33 13 0 13 1.0 intronic rs4859586 ART3 AU 0.691294 0.9375 Uncertain 4_76943296_A->C 4 76943296 76943296 A C snp 208.84 1/1 18 6 0 6 1.0 intronic rs4859587 ART3 AU 0.691294 0.9375 Uncertain 4_76943677_G->A 4 76943677 76943677 G A snp 1973.77 1/1 99 51 0 51 1.0 intronic rs4859588 ART3 AU 0.691294 0.9375 Uncertain 4_76944491_T->C 4 76944491 76944491 T C snp 2304.77 1/1 99 74 0 74 1.0 intronic rs4241578 ART3 AU 0.691294 0.9375 0.596173 0.6083 0.9494 Uncertain 4_76944785_C->T 4 76944785 76944785 C T snp 508.77 0/1 99 58 38 20 0.34 intronic rs56061981 ART3 AU 0.106829 0.0992 ID=CR082012;DIS=Susceptibility to disease progression in male HBV;TAG=DP;PUB=18325387 DP Uncertain 4_76955914_T->C 4 76955914 76955914 T C snp 1258.77 1/1 90 44 0 44 1.0 UTR3 rs6532111 CXCL11 AU 0.690495 0.9375 0.594563 0.6092 0.9456 Uncertain 4_76956179_G->A 4 76956179 76956179 G A snp 629.77 0/1 99 55 33 22 0.4 intronic rs12649185 ART3 AU 0.214457 0.3909 0.187711 0.2437 0.4060 Uncertain 4_76956188_T->C 4 76956188 76956188 T C snp 1780.77 1/1 99 56 0 56 1.0 intronic rs4241580 ART3 AU 0.690495 0.9375 0.595509 0.6059 0.9491 Uncertain 4_76956289_-->AA 4 76956289 76956289 - AA indel 4066.73 1/1 99 82 0 82 1.0 intronic rs373818192 ART3 AU 0.690495 0.9375 0.595927 0.6060 0.9497 Uncertain 4_76956528_A->G 4 76956528 76956528 A G snp 4041.77 1/1 99 138 0 138 1.0 intronic rs4859415 ART3 AU 0.690495 0.9375 0.595879 0.6130 0.9493 Uncertain 4_76956630_A->T 4 76956630 76956630 A T snp 489.77 1/1 39 13 0 13 1.0 intronic rs4859597 ART3 AU 0.690495 0.9375 Uncertain 4_76957171_C->T 4 76957171 76957171 C T snp 4149.77 1/1 99 149 0 149 1.0 UTR5 rs6819597 CXCL11 AU 0.690695 0.9375 0.595725 0.6069 0.9496 Uncertain 4_76996958_G->A 4 76996958 76996958 G A snp 1264.77 1/1 93 37 0 37 1.0 intronic rs6532172 ART3 AU 0.685903 0.9355 Uncertain 4_76997258_T->C 4 76997258 76997258 T C snp 86.28 1/1 9 4 0 4 1.0 intronic rs7676265 ART3 AU NM_001130017 exon2 c.69+147T>C 0.686102 0.9355 Uncertain 4_77002952_G->A 4 77002952 77002952 G A snp 1318.77 0/1 99 106 56 50 0.47 intronic rs4267761 ART3 AU NM_001130017 exon3 c.5934-24G>A 0.123602 0.1458 0.084756 0.1145 0.1270 Uncertain 4_77019969_G->C 4 77019969 77019969 G C snp 182.9 1/1 15 5 0 5 1.0 intronic rs10022519 ART3 AU NM_001130017 exon5 c.23065-138G>C 0.642173 0.9772 Uncertain 4_77021288_G->C 4 77021288 77021288 G C snp 303.78 1/1 24 8 0 8 1.0 intronic rs7654988 ART3 AU NM_001130017 exon6 c.24401-155G>C 0.678514 0.9772 Uncertain 4_77021433_C->T 4 77021433 77021433 C T snp 1141.77 0/1 99 129 77 52 0.4 intronic rs6532189 ART3 AU NM_001130017 exon6 c.24401-10C>T 0.307508 0.3522 0.313086 0.2746 0.3752 Uncertain 4_77022286_C->G 4 77022286 77022286 C G snp 1895.77 0/1 99 150 79 71 0.47 intronic rs17001385 ART3 AU NM_001130017 exon8 c.25130+114C>G 0.159744 0.3522 Uncertain 4_77025273_C->T 4 77025273 77025273 C T snp 2481.77 1/1 99 77 0 77 1.0 intronic rs7682766 ART3 AU NM_001130017 exon9 c.28080+151C>T 0.580671 0.9236 Uncertain 4_77025368_G->A 4 77025368 77025368 G A snp 86.28 1/1 9 3 0 3 1.0 intronic rs7697711 ART3 AU NM_001130017 exon9 c.28080+246G>A 0.767372 0.9772 Uncertain 4_77025840_C->T 4 77025840 77025840 C T snp 1003.77 0/1 99 89 47 42 0.47 intronic rs13130116 ART3 AU NM_001130016 exon10 c.28740+58C>T 0.264976 0.2183 0.187911 Uncertain 4_77028783_G->A 4 77028783 77028783 G A snp 491.77 0/1 99 37 16 21 0.57 intronic rs10033843 ART3 AU NM_001130016 exon11 c.31871-130G>A 0.402157 0.2183 Uncertain 4_77033590_C->T 4 77033590 77033590 C T snp 5366.77 1/1 99 208 0 208 1.0 exonic rs1128864 ART3 AU nonsynonymous SNV NM_001130017 exon10 c.C1022T p.S341L 0.483826 0.5982 0.372597 0.3516 0.6151 0.19 T 0.000 P -0.965 T 0.025 T 0.006 T Pathogenic 4_77033725_C->A 4 77033725 77033725 C A snp 1543.77 1/1 99 47 0 47 1.0 UTR3 rs14773 ART3 AU 0.432508 0.5446 Uncertain 4_77038643_C->T 4 77038643 77038643 C T snp 71.77 0/1 99 8 5 3 0.38 intronic rs11944608 NUP54 AU NM_017426 exon2 c.2298-173C>T 0.198083 0.3532 Uncertain 4_77039352_A->G 4 77039352 77039352 A G snp 1879.77 0/1 99 132 56 76 0.58 splicing rs13115827 NUP54 AU NM_017426 exon3 c.2829+5A>G 0.191893 0.3532 0.165334 0.1879 0.375 Pathogenic 4_77052530_T->C 4 77052530 77052530 T C snp 99.28 1/1 9 5 0 5 1.0 intronic rs13126384 NUP54 AU NM_017426 exon6 c.15919+93T>C 0.58746 0.8958 Uncertain 4_77053562_C->T 4 77053562 77053562 C T snp 691.77 1/1 51 21 0 21 1.0 intronic rs4859619 NUP54 AU NM_017426 exon7 c.17157-113C>T 0.767372 0.9772 Uncertain 4_77060869_G->C 4 77060869 77060869 G C snp 110.77 0/1 99 10 6 4 0.4 intronic rs12499900 NUP54 AU NM_017426 exon9 c.21047+3304G>C 0.234425 0.1915 Uncertain 4_77065264_C->T 4 77065264 77065264 C T snp 5100.77 1/1 99 172 0 172 1.0 intronic rs11736522 NUP54 AU NM_017426 exon10 c.28783-37C>T 0.58726 0.8958 0.454098 0.4856 0.8920 Uncertain 4_77065477_AA->- 4 77065477 77065478 AA - indel 3579.73 1/1 99 144 0 144 1.0 intronic rs145851413 NUP54 AU NM_017426 exon10 c.28927+32_28927+33delAA 0.36881 0.4504 0.2790 0.4107 Uncertain 4_77065518_T->C 4 77065518 77065518 T C snp 3256.77 1/1 99 109 0 109 1.0 intronic rs11946345 NUP54 AU NM_017426 exon11 c.29024-24T>C 0.575479 0.8958 0.440643 0.4812 0.8920 Uncertain 4_77066587_T->C 4 77066587 77066587 T C snp 180.9 1/1 15 5 0 5 1.0 intronic rs13151075 NUP54 AU NM_017426 exon11 c.29108+961T>C 0.432308 0.5446 Uncertain 4_77067133_C->T 4 77067133 77067133 C T snp 830.77 1/1 60 31 0 31 1.0 intronic rs735696 NUP54 AU NM_017426 exon11 c.29108+1507C>T 0.58726 0.8958 Uncertain 4_77067368_A->G 4 77067368 77067368 A G snp 221.84 1/1 18 8 0 8 1.0 intronic rs735697 NUP54 AU NM_017426 exon11 c.29108+1742A>G 0.587859 0.8958 Uncertain 4_77067389_A->G 4 77067389 77067389 A G snp 46.77 0/1 33 3 1 2 0.67 intronic rs2197104 NUP54 AU NM_017426 exon11 c.29108+1763A>G 0.159345 0.3532 Uncertain 4_77083071_CAG->- 4 77083071 77083073 CAG - indel 760.73 0/1 99 36 16 20 0.56 intronic rs35414001 SCARB2 AR NM_001204255 exon1 c.39+167_39+169delCAG 0.473842 0.6141 Uncertain 4_77083082_A->T 4 77083082 77083082 A T snp 518.77 0/1 99 29 14 15 0.52 intronic rs3755890 SCARB2 AR NM_001204255 exon1 c.39+178A>T 0.160743 0.2123 Uncertain 4_77084589_T->C 4 77084589 77084589 T C snp 591.77 0/1 99 49 26 23 0.47 intronic rs35583533 SCARB2 AR NM_001204255 exon2 c.1671+53T>C 0.145966 0.2123 Uncertain 4_77096843_C->T 4 77096843 77096843 C T snp 442.77 0/1 99 29 15 14 0.48 intronic rs34334700 SCARB2 AR NM_001204255 exon7 c.14078-100C>T 0.15635 0.2153 Uncertain 4_77100901_A->G 4 77100901 77100901 A G snp 221.77 0/1 99 18 10 8 0.44 intronic rs894248 SCARB2 AR NM_005506 exon9 c.17993+43A>G 0.15655 0.2163 0.098262 0.1093 0.2085 Uncertain 4_77102006_C->G 4 77102006 77102006 C G snp 77.77 0/1 99 7 4 3 0.43 intronic rs2304814 SCARB2 AR NM_005506 exon10 c.19241-100C>G 0.157348 0.2153 Uncertain 4_77105911_A->G 4 77105911 77105911 A G snp 336.77 0/1 99 20 4 16 0.8 intronic rs72857048 SCARB2 AR NM_005506 exon10 c.19389+3657A>G 0.156749 0.2173 0.1291 0.2016 Uncertain 4_77105939_AA->- 4 77105939 77105940 AA - indel 249.73 0/1 99 26 7 19 0.73 intronic rs373266793 SCARB2 AR NM_005506 exon10 c.19389+3685_19389+3686delAA 0.0211 0.0196 Uncertain 4_77105950_A->T 4 77105950 77105950 A T snp 287.77 0/1 99 41 23 18 0.44 intronic rs370305799 SCARB2 AR NM_005506 exon10 c.19389+3696A>T Uncertain 4_77105951_A->T 4 77105951 77105951 A T snp 324.77 0/1 99 41 23 18 0.44 intronic rs374754963 SCARB2 AR NM_005506 exon10 c.19389+3697A>T Uncertain 4_77105952_A->T 4 77105952 77105952 A T snp 322.77 0/1 99 41 23 18 0.44 intronic rs59335499 SCARB2 AR NM_005506 exon10 c.19389+3698A>T 0.41873 0.5456 0.1864 0.3482 Uncertain 4_77106046_A->T 4 77106046 77106046 A T snp 1598.77 0/1 99 130 51 79 0.61 intronic rs67917805 SCARB2 AR NM_005506 exon10 c.19389+3792A>T 0.157548 0.2173 Uncertain 4_77106137_G->C 4 77106137 77106137 G C snp 702.77 0/1 99 45 21 24 0.53 intronic rs17001588 SCARB2 AR NM_005506 exon10 c.19389+3883G>C 0.157748 0.2173 Uncertain 4_77134786_C->T 4 77134786 77134786 C T snp 812.77 1/1 63 23 0 23 1.0 UTR5 rs11547135 SCARB2 AR 0.40615 0.6419 Uncertain 4_77177817_A->G 4 77177817 77177817 A G snp 123.78 0/1 27 5 1 4 0.8 intronic rs2289514 FAM47E AU NM_001136570 exon2 c.4777+141A>G 0.516174 0.3591 Uncertain 4_77189984_T->C 4 77189984 77189984 T C snp 850.77 0/1 99 64 30 34 0.53 intronic rs1876538 FAM47E AU NM_001242936 exon4 c.51206+18T>C 0.319888 0.3224 0.3881 0.3110 Uncertain 4_77190069_C->T 4 77190069 77190069 C T snp 77.77 0/1 63 5 2 3 0.6 intronic rs1876539 FAM47E AU NM_001242936 exon4 c.51206+103C>T 0.319688 0.3224 Uncertain 4_77192688_G->T 4 77192688 77192688 G T snp 1064.77 0/1 99 92 49 43 0.47 intronic rs3733253 FAM47E AU NM_001242936 exon5 c.53960-32G>T 0.320088 0.3224 0.3905 0.3084 Uncertain 4_77192868_G->A 4 77192868 77192868 G A snp 1520.77 0/1 99 115 52 63 0.55 exonic rs3733250 FAM47E AU nonsynonymous SNV NM_001136570 exon5 c.G817A p.E273K 0.320088 0.3224 0.356548 0.3882 0.3032 0.06 T 0.000 P -0.973 T 0.514 P 0.108 P Pathogenic 4_77199414_C->A 4 77199414 77199414 C A snp 129.77 0/1 99 21 15 6 0.29 intronic rs964051 FAM47E AU NM_001242936 exon6 c.60617+37C>A 0.315296 0.3472 0.4083 0.3858 Uncertain 4_77201332_G->A 4 77201332 77201332 G A snp 385.77 0/1 99 22 8 14 0.64 intronic rs1036787 FAM47E AU NM_001242936 exon7 c.62656-84G>A 0.81869 0.8393 Uncertain 4_77201487_C->T 4 77201487 77201487 C T snp 1167.77 0/1 99 95 48 47 0.49 exonic rs1036788 FAM47E AU nonsynonymous SNV NM_001136570 exon7 c.C1097T p.T366M 0.655152 0.4286 0.782961 0.7284 0.4132 1 T 1.000 P -0.954 T 0.005 T 0.001 T Pathogenic 4_77204500_C->T 4 77204500 77204500 C T snp 562.77 0/1 99 57 28 29 0.51 intronic rs1542096 FAM47E AU NM_001242936 exon8 c.65773-33C>T 0.628794 0.7688 0.630968 0.6556 0.7516 Uncertain 4_77231294_A->C 4 77231294 77231294 A C snp 59.74 1/1 6 3 0 3 1.0 UTR3 rs3733248 FAM47E-STBD1 AU 0.870407 0.8433 Uncertain 4_77244269_T->C 4 77244269 77244269 T C snp 592.77 1/1 45 15 0 15 1.0 intronic rs932024 CCDC158 AU NM_001042784 exon2 c.10132-185T>C 0.663738 0.7748 Uncertain 4_77272105_C->T 4 77272105 77272105 C T snp 291.77 0/1 99 23 14 9 0.39 intronic rs75094648 CCDC158 AU NM_001042784 exon8 c.37826-43C>T 0.0209665 0.0992 0.000253 0.0061 0.0787 Uncertain 4_77274242_T->C 4 77274242 77274242 T C snp 4623.77 1/1 99 149 0 149 1.0 intronic rs12504985 CCDC158 AU NM_001042784 exon10 c.39953-33T>C 0.61861 0.7748 0.560655 0.6516 0.7723 Uncertain 4_77278411_T->C 4 77278411 77278411 T C snp 267.8 1/1 21 8 0 8 1.0 intronic rs4241592 CCDC158 AU NM_001042784 exon12 c.44204-115T>C 0.873003 0.8641 Uncertain 4_77290561_G->A 4 77290561 77290561 G A snp 231.77 0/1 99 32 24 8 0.25 intronic rs72657825 CCDC158 AU NM_001042784 exon15 c.56256-17G>A 0.188099 0.0784 0.323761 0.3430 0.0993 Uncertain 4_77292801_C->T 4 77292801 77292801 C T snp 320.77 0/1 99 16 4 12 0.75 intronic rs6853408 CCDC158 AU NM_001042784 exon16 c.58367+112C>T 0.421725 0.7163 Uncertain 4_77296600_T->C 4 77296600 77296600 T C snp 788.77 0/1 99 108 67 41 0.38 intronic rs1876535 CCDC158 AU NM_001042784 exon17 c.66120-3842T>C 0.189696 0.0804 Uncertain 4_77303621_C->T 4 77303621 77303621 C T snp 41.74 1/1 6 2 0 2 1.0 intronic rs17252554 CCDC158 AU NM_001042784 exon18 c.69440-141C>T 0.188498 0.0804 Uncertain 4_77303898_C->T 4 77303898 77303898 C T snp 1662.77 1/1 99 58 0 58 1.0 intronic rs6844174 CCDC158 AU NM_001042784 exon18 c.69551+25C>T 0.885982 0.8641 0.873576 0.8949 0.8414 Uncertain 4_77494621_T->C 4 77494621 77494621 T C snp 582.77 0/1 99 37 15 22 0.59 intronic rs12108253 SHROOM3 AU NM_020859 exon2 c.119711+17705T>C 0.189497 0.3026 Uncertain 4_77631425_T->A 4 77631425 77631425 T A snp 1710.77 0/1 99 119 53 66 0.55 exonic rs3821979 SHROOM3 AU nonsynonymous SNV NM_020859 exon3 c.T440A p.L147H 0.21905 0.3363 0.145394 0.1801 0.3369 0 D 0.695 P -1.042 T 0.998 D 0.879 D ID=CM063143;DIS=Leukemia, risk, association with;TAG=DP;PUB=16574953 DP Pathogenic 4_77637502_A->C 4 77637502 77637502 A C snp 2583.77 0/1 99 250 132 118 0.47 intronic rs344122 SHROOM3 AU NM_020859 exon3 c.274235+6062A>C 0.683307 0.5843 0.738054 0.7196 0.5669 0.1 T 0.0 P -1.023 T Uncertain 4_77660162_G->C 4 77660162 77660162 G C snp 2688.77 0/1 99 240 125 115 0.48 exonic rs344140 SHROOM3 AU nonsynonymous SNV NM_020859 exon5 c.G836C p.G279A 0.664936 0.6022 0.709903 0.7160 0.5776 1 T 0.0 P -0.903 T 0.002 T 0.003 T Pathogenic 4_77660731_C->G 4 77660731 77660731 C G snp 1626.77 0/1 99 126 59 67 0.53 exonic rs344141 SHROOM3 AU nonsynonymous SNV NM_020859 exon5 c.C1405G p.P469A 0.438498 0.2688 0.555513 0.5343 0.2508 0.08 T 0.997 P -0.896 T 1.0 D 0.996 D Pathogenic 4_77662248_G->A 4 77662248 77662248 G A snp 1389.77 0/1 99 124 68 56 0.45 exonic rs344142 SHROOM3 AU synonymous SNV NM_020859 exon5 c.G2922A p.S974S 0.432308 0.2669 0.643608 0.5596 0.348 Uncertain 4_77662309_C->T 4 77662309 77662309 C T snp 1163.77 0/1 99 86 40 46 0.53 exonic rs344143 SHROOM3 AU synonymous SNV NM_020859 exon5 c.C2983T p.L995L 0.380591 0.2669 0.404288 0.5359 0.4261 Uncertain 4_77663262_T->C 4 77663262 77663262 T C snp 2361.77 0/1 99 159 61 98 0.62 intronic rs344144 SHROOM3 AU NM_020859 exon5 c.305874+183T>C 0.45607 0.2679 0.5111 0.2375 Uncertain 4_77663306_TCTA->- 4 77663306 77663309 TCTA - indel 2881.73 0/1 99 87 26 61 0.7 intronic rs3830364 SHROOM3 AU NM_020859 exon5 c.305874+227_305874+230delTCTA 0.179712 0.2282 Uncertain 4_77675505_C->T 4 77675505 77675505 C T snp 3084.77 0/1 99 250 126 124 0.5 exonic rs3733242 SHROOM3 AU nonsynonymous SNV NM_020859 exon7 c.C3869T p.P1290L 0.529353 0.5655 0.478779 0.4609 0.5527 0.44 T 0.0 P -0.985 T 0.0 T 0.0 T Pathogenic 4_77817874_G->T 4 77817874 77817874 G T snp 2177.77 0/1 99 247 156 91 0.37 exonic rs2703130 SOWAHB AU nonsynonymous SNV NM_001029870 exon1 c.C1129A p.P377T 0.109026 0.0853 0.140474 0.1289 0.0696 0.91 T 0.0 P -0.939 T 0.267 T 0.086 T Pathogenic 4_77818202_T->C 4 77818202 77818202 T C snp 1094.77 0/1 99 95 50 45 0.47 exonic rs2645674 SOWAHB AU synonymous SNV NM_001029870 exon1 c.A801G p.T267T 0.333466 0.2292 0.262882 0.3557 0.275 Uncertain 4_77818548_T->C 4 77818548 77818548 T C snp 643.77 0/1 99 56 31 25 0.45 exonic rs2703129 SOWAHB AU nonsynonymous SNV NM_001029870 exon1 c.A455G p.D152G 0.333866 0.2272 0.201126 0.3292 0.3056 0.79 T 0.0 P -0.989 T 0.0 T 0.0 T Pathogenic 4_77916865_G->A 4 77916865 77916865 G A snp 281.77 0/1 99 24 14 10 0.42 intronic rs6532758 SEPT11 AU NM_018243 exon2 c.46521-712G>A 0.479633 0.3433 Uncertain 4_77917194_A->G 4 77917194 77917194 A G snp 116.77 0/1 66 6 2 4 0.67 intronic rs7356354 SEPT11 AU NM_018243 exon2 c.46521-383A>G 0.479633 0.3433 Uncertain 4_77917458_A->G 4 77917458 77917458 A G snp 1827.77 0/1 99 132 66 66 0.5 intronic rs7685131 SEPT11 AU NM_018243 exon2 c.46521-119A>G 0.480032 0.3433 Uncertain 4_77949998_GGTCCAA->- 4 77949998 77950004 GGTCCAA - indel 4707.73 0/1 99 113 53 60 0.53 intronic rs111698952 SEPT11 AU NM_018243 exon8 c.78858+84_78858+90delGGTCCAA 0.26278 0.4038 Uncertain 4_77958130_G->A 4 77958130 77958130 G A snp 69.77 0/1 98 6 3 3 0.5 UTR3 rs1127587 SEPT11 AU 0.545527 0.6409 Uncertain 4_77976617_-->T 4 77976617 77976617 - T indel 36.73 0/1 61 26 6 20 0.77 intronic rs11378505 CCNI AU NM_006835 exon2 c.7162+84insT Uncertain 4_77987351_A->G 4 77987351 77987351 A G snp 1508.77 1/1 99 53 0 53 1.0 intronic rs4241602 CCNI AU NM_006835 exon6 c.18030-50A>G 0.961661 0.998 0.935107 0.9271 0.9993 Uncertain 4_77996521_A->C 4 77996521 77996521 A C snp 108.77 0/1 99 9 5 4 0.44 intronic rs4252767 CCNI AU NM_006835 exon7 c.27253-103A>C 0.61222 0.6498 Uncertain 4_77996844_C->T 4 77996844 77996844 C T snp 553.77 0/1 99 52 29 23 0.44 UTR5 rs138580629 CCNI AU 0.00658946 0.0327 Uncertain 4_78034309_A->C 4 78034309 78034309 A C snp 2977.77 0/1 99 250 126 124 0.5 intergenic rs4859743 CCNI AU 0.29992 0.379 Uncertain 4_78081744_G->C 4 78081744 78081744 G C snp 143.77 0/1 99 13 8 5 0.38 intronic rs28648488 CCNG2 AU NM_004354 exon4 c.2188-129G>C 0.399361 0.4653 Uncertain 4_78082564_ATTTAAAATC->- 4 78082564 78082573 ATTTAAAATC - indel 552.73 0/1 99 8 3 5 0.63 intronic rs72040769 CCNG2 AU NM_004354 exon5 c.2947-68_2947-59delATTTAAAATC 0.0662939 0.0585 Uncertain 4_78086900_T->C 4 78086900 78086900 T C snp 470.77 0/1 99 35 18 17 0.49 intronic rs4150092 CCNG2 AU NM_004354 exon8 c.7268-53T>C 0.0902556 0.0585 Uncertain 4_78106441_C->A 4 78106441 78106441 C A snp 406.77 0/1 99 34 19 15 0.44 intergenic rs6822800 CCNG2 AU 0.312101 0.1022 Uncertain 4_78669454_A->G 4 78669454 78669454 A G snp 1372.77 1/1 99 49 0 49 1.0 intronic rs6855336 CNOT6L AU NM_144571 exon7 c.27885-15A>G 0.832069 0.8165 0.872978 0.8733 0.8159 Uncertain 4_78697552_-->A 4 78697552 78697552 - A indel 227.74 1/1 30 12 0 12 1.0 splicing rs34417165 CNOT6L AU NM_144571 exon11 c.55962+6insA 0.802915 0.9206 0.816450 0.7142 0.7946 Pathogenic 4_78740066_T->C 4 78740066 78740066 T C snp 120.77 0/1 99 17 10 7 0.41 intronic rs6811439 CNOT6L AU NM_001286790 exon12 c.98802-320T>C 0.512979 0.3363 Uncertain 4_78740132_G->C 4 78740132 78740132 G C snp 388.77 1/1 30 15 0 15 1.0 intronic rs6828302 CNOT6L AU NM_001286790 exon12 c.98802-254G>C 0.761981 0.8165 0.7816 0.8231 1.0 P -1.056 T Uncertain 4_78870940_T->A 4 78870940 78870940 T A snp 1072.77 0/1 99 100 53 47 0.47 intronic rs4859513 MRPL1 AU NM_020236 exon8 c.86948-10T>A 0.417532 0.3333 0.476165 0.4938 0.3263 Uncertain 4_78873605_A->G 4 78873605 78873605 A G snp 1622.77 0/1 99 133 67 66 0.5 intronic rs35979107 MRPL1 AU NM_020236 exon9 c.89640-37A>G 0.29373 0.4712 0.262612 0.3068 0.4846 Uncertain 4_78873629_G->A 4 78873629 78873629 G A snp 1873.77 0/1 99 147 64 83 0.56 intronic rs17002849 MRPL1 AU NM_020236 exon9 c.89640-13G>A 0.29353 0.4702 0.263801 0.3072 0.4845 Uncertain 4_78987157_A->G 4 78987157 78987157 A G snp 4174.77 1/1 99 162 0 162 1.0 exonic rs4859905 FRAS1 AR nonsynonymous SNV NM_025074 exon2 c.A95G p.D32G 0.551518 0.5407 0.487420 0.4563 0.4962 1 T 0.002 P -0.980 T 0.0 T 0.0 T Pathogenic 4_78987284_A->C 4 78987284 78987284 A C snp 565.77 1/1 42 15 0 15 1.0 intronic rs4859516 FRAS1 AR NM_025074 exon2 c.8007+114A>C 0.288339 0.3948 Uncertain 4_78987285_C->A 4 78987285 78987285 C A snp 556.77 1/1 42 15 0 15 1.0 intronic rs4859906 FRAS1 AR NM_025074 exon2 c.8007+115C>A 0.288339 0.3948 Uncertain 4_78989630_G->A 4 78989630 78989630 G A snp 1151.77 1/1 84 31 0 31 1.0 intronic rs10016219 FRAS1 AR NM_025074 exon2 c.8007+2460G>A 0.273962 0.3948 Uncertain 4_78989672_G->C 4 78989672 78989672 G C snp 2025.77 1/1 99 71 0 71 1.0 intronic rs10016229 FRAS1 AR NM_025074 exon2 c.8007+2502G>C 0.288139 0.3948 0.2703 0.3406 Uncertain 4_78989716_T->C 4 78989716 78989716 T C snp 2500.77 1/1 99 96 0 96 1.0 intronic rs10008489 FRAS1 AR NM_025074 exon2 c.8007+2546T>C 0.28774 0.3938 0.2700 0.3406 Uncertain 4_78989842_G->A 4 78989842 78989842 G A snp 1491.77 1/1 99 48 0 48 1.0 intronic rs10016432 FRAS1 AR NM_025074 exon2 c.8007+2672G>A 0.288339 0.3948 Uncertain 4_78989939_G->A 4 78989939 78989939 G A snp 99.28 1/1 9 3 0 3 1.0 intronic rs873455 FRAS1 AR NM_025074 exon2 c.8007+2769G>A 0.289936 0.3948 Uncertain 4_79158843_G->T 4 79158843 79158843 G T snp 1112.77 0/1 99 71 27 44 0.62 intronic rs10011303 FRAS1 AR NM_025074 exon3 c.179608+72G>T 0.30631 0.3214 Uncertain 4_79173515_-->T 4 79173515 79173515 - T indel 2035.73 1/1 99 93 0 93 1.0 intronic rs34015316 FRAS1 AR NM_025074 exon5 c.194382-30insT 0.39397 0.5278 0.3949 0.4813 Uncertain 4_79176245_G->A 4 79176245 79176245 G A snp 56.74 1/1 6 2 0 2 1.0 intronic rs1017648 FRAS1 AR NM_025074 exon6 c.197232-150G>A 0.922125 0.9623 Uncertain 4_79176325_C->T 4 79176325 79176325 C T snp 1082.77 1/1 78 36 0 36 1.0 intronic rs1017647 FRAS1 AR NM_025074 exon6 c.197232-70C>T 0.922125 0.9623 Uncertain 4_79176361_T->C 4 79176361 79176361 T C snp 1477.77 1/1 99 55 0 55 1.0 intronic rs1017646 FRAS1 AR NM_025074 exon6 c.197232-34T>C 0.922125 0.9623 0.938730 0.9708 0.9703 Uncertain 4_79186171_G->A 4 79186171 79186171 G A snp 5777.77 1/1 99 219 1 218 1.0 intronic rs2867014 FRAS1 AR NM_025074 exon7 c.207015-7G>A 0.922125 0.9623 0.935560 0.9741 0.9509 Uncertain 4_79187832_G->A 4 79187832 79187832 G A snp 979.77 1/1 72 30 0 30 1.0 intronic rs2008587 FRAS1 AR NM_025074 exon8 c.208824-155G>A 0.927516 0.9623 Uncertain 4_79187900_T->G 4 79187900 79187900 T G snp 3566.77 1/1 99 117 0 117 1.0 intronic rs7694740 FRAS1 AR NM_025074 exon8 c.208824-87T>G 0.417133 0.5853 Uncertain 4_79188160_C->T 4 79188160 79188160 C T snp 1612.77 1/1 99 60 0 60 1.0 intronic rs2008786 FRAS1 AR NM_025074 exon8 c.208926+71C>T 0.579273 0.5853 Uncertain 4_79204209_C->T 4 79204209 79204209 C T snp 648.77 1/1 48 19 0 19 1.0 intronic rs1378236 FRAS1 AR NM_025074 exon12 c.224958+88C>T 0.958866 1 Uncertain 4_79207784_G->T 4 79207784 79207784 G T snp 48.74 1/1 6 2 0 2 1.0 intronic rs967635 FRAS1 AR NM_025074 exon14 c.228530+91G>T 0.922324 0.9593 Uncertain 4_79238448_T->C 4 79238448 79238448 T C snp 453.77 0/1 99 57 39 18 0.32 intronic rs345515 FRAS1 AR NM_025074 exon17 c.259358-73T>C 0.625599 0.6716 Uncertain 4_79238649_T->C 4 79238649 79238649 T C snp 1282.77 0/1 99 94 45 49 0.52 exonic rs345514 FRAS1 AR synonymous SNV NM_025074 exon17 c.T1947C p.H649H 0.797783 0.7442 0.6986 0.0 P -1.062 T Likely benign 4_79240473_C->T 4 79240473 79240473 C T snp 974.77 0/1 99 80 42 38 0.47 intronic rs345511 FRAS1 AR NM_025074 exon18 c.260977+333C>T 0.733626 0.6667 0.6377 0.7028 Uncertain 4_79240674_C->T 4 79240674 79240674 C T snp 1339.77 0/1 99 107 54 53 0.5 intronic rs11937525 FRAS1 AR NM_025074 exon18 c.260977+534C>T 0.108027 0.2619 Uncertain 4_79285001_G->A 4 79285001 79285001 G A snp 480.77 0/1 99 23 9 14 0.61 intronic rs17003160 FRAS1 AR NM_025074 exon22 c.305898-60G>A 0.214058 0.3433 Uncertain 4_79285354_G->A 4 79285354 79285354 G A snp 616.77 0/1 99 47 23 24 0.51 intronic rs57911981 FRAS1 AR NM_025074 exon22 c.306045+146G>A 0.214058 0.3433 Uncertain 4_79285399_A->G 4 79285399 79285399 A G snp 185.77 0/1 99 14 7 7 0.5 intronic rs17003161 FRAS1 AR NM_025074 exon22 c.306045+191A>G 0.214058 0.3433 Uncertain 4_79285421_G->C 4 79285421 79285421 G C snp 43.77 0/1 66 4 2 2 0.5 intronic rs57314485 FRAS1 AR NM_025074 exon22 c.306045+213G>C 0.214058 0.3433 Uncertain 4_79291275_G->A 4 79291275 79291275 G A snp 110.77 0/1 99 10 6 4 0.4 intronic rs11098158 FRAS1 AR NM_025074 exon23 c.311975+137G>A 0.216054 0.3423 Uncertain 4_79295156_A->G 4 79295156 79295156 A G snp 65.77 0/1 94 12 9 3 0.25 intronic rs7687731 FRAS1 AR NM_025074 exon25 c.316101-108A>G 0.280751 0.3413 Uncertain 4_79295418_-->TG 4 79295418 79295418 - TG indel 709.73 0/1 99 41 21 20 0.49 intronic rs34889042 FRAS1 AR NM_025074 exon25 c.316242+13insTG 0.35643 0.3482 0.394809 0.3434 0.3492 Uncertain 4_79339950_G->C 4 79339950 79339950 G C snp 189.77 0/1 99 13 6 7 0.54 intronic rs12649596 FRAS1 AR NM_025074 exon33 c.360939-152G>C 0.30631 0.3026 Uncertain 4_79343286_G->C 4 79343286 79343286 G C snp 43.77 0/1 72 4 2 2 0.5 intronic rs6836084 FRAS1 AR NM_025074 exon34 c.363991+132G>C 0.287939 0.3155 Uncertain 4_79345650_A->G 4 79345650 79345650 A G snp 519.77 0/1 99 40 20 20 0.5 intronic rs1471752 FRAS1 AR NM_025074 exon35 c.366411+76A>G 0.286941 0.3026 Uncertain 4_79350115_C->T 4 79350115 79350115 C T snp 139.03 1/1 12 4 0 4 1.0 intronic rs2054722 FRAS1 AR NM_025074 exon36 c.371085-133C>T 0.611022 0.5119 Uncertain 4_79350200_-->TGTG 4 79350200 79350200 - TGTG indel 3785.73 ./1 99 52 0 52 1.0 intronic rs112867538 FRAS1 AR NM_025074 exon36 c.371085-48insTGTG 0.426518 0.3085 0.4167 0.2875 Uncertain 4_79350200_-->TGTGTGTG 4 79350200 79350200 - TGTGTGTG indel 3785.73 ./1 99 52 0 52 1.0 intronic rs112867538 FRAS1 AR NM_025074 exon36 c.371085-48insTGTGTGTG 0.129792 0.1706 0.1424 0.2161 Uncertain 4_79359885_T->G 4 79359885 79359885 T G snp 831.77 0/1 99 49 19 30 0.61 intronic rs2170899 FRAS1 AR NM_025074 exon39 c.380709+13T>G 0.28155 0.3056 0.300188 0.3947 0.3550 Uncertain 4_79362209_A->G 4 79362209 79362209 A G snp 75.77 0/1 99 6 3 3 0.5 intronic rs2035510 FRAS1 AR NM_025074 exon41 c.383152-106A>G 0.311901 0.3056 Uncertain 4_79365152_G->A 4 79365152 79365152 G A snp 93.28 1/1 9 3 0 3 1.0 intronic rs3762844 FRAS1 AR NM_025074 exon42 c.387512-1523G>A 0.610423 0.5278 Uncertain 4_79365479_C->T 4 79365479 79365479 C T snp 46.77 0/1 72 5 2 3 0.6 intronic rs7678731 FRAS1 AR NM_025074 exon42 c.387512-1196C>T 0.275759 0.3194 Uncertain 4_79366655_G->C 4 79366655 79366655 G C snp 1682.77 0/1 99 140 72 68 0.49 intronic rs3749489 FRAS1 AR NM_025074 exon42 c.387512-20G>C 0.275759 0.3194 0.292295 0.3672 0.3207 Uncertain 4_79371579_G->A 4 79371579 79371579 G A snp 37.77 0/1 66 6 4 2 0.33 intronic rs13148498 FRAS1 AR NM_025074 exon45 c.392330+86G>A 0.275759 0.3194 Uncertain 4_79372856_A->C 4 79372856 79372856 A C snp 3699.77 1/1 99 141 0 141 1.0 intronic rs10026662 FRAS1 AR NM_025074 exon46 c.393762-69A>C 0.610623 0.5278 Uncertain 4_79372930_C->T 4 79372930 79372930 C T snp 5630.77 1/1 99 217 1 216 1.0 exonic rs753752 FRAS1 AR synonymous SNV NM_025074 exon46 c.C6468T p.H2156H 0.579473 0.5278 0.685577 0.6829 0.5490 0.0 P -1.009 T Likely benign 4_79373254_T->C 4 79373254 79373254 T C snp 133.03 1/1 12 4 0 4 1.0 intronic rs753751 FRAS1 AR NM_025074 exon47 c.394165-74T>C 0.579473 0.5278 Uncertain 4_79385719_G->A 4 79385719 79385719 G A snp 887.77 0/1 99 66 33 33 0.5 exonic rs6851427 FRAS1 AR synonymous SNV NM_025074 exon49 c.G7011A p.A2337A 0.297524 0.3194 0.310301 0.3658 0.3183 1.000 P -1.055 T Likely benign 4_79385803_G->A 4 79385803 79385803 G A snp 216.77 0/1 99 12 5 7 0.58 intronic rs11933507 FRAS1 AR NM_025074 exon49 c.406574+66G>A 0.34405 0.2113 Uncertain 4_79387278_C->A 4 79387278 79387278 C A snp 130.77 0/1 99 12 7 5 0.42 intronic rs4975120 FRAS1 AR NM_025074 exon50 c.408198-83C>A 0.269768 0.2113 Uncertain 4_79387281_T->G 4 79387281 79387281 T G snp 228.77 0/1 99 12 5 7 0.58 intronic rs12640944 FRAS1 AR NM_025074 exon50 c.408198-80T>G 0.297524 0.3194 Uncertain 4_79387442_C->T 4 79387442 79387442 C T snp 2703.77 0/1 99 236 116 120 0.51 exonic rs7660664 FRAS1 AR synonymous SNV NM_025074 exon50 c.C7110T p.H2370H 0.322085 0.2113 0.396228 0.3169 0.2240 0.996 P -0.902 T Likely benign 4_79387464_A->G 4 79387464 79387464 A G snp 6334.77 1/1 99 232 1 231 1.0 exonic rs7684722 FRAS1 AR nonsynonymous SNV NM_025074 exon50 c.A7132G p.K2378E 0.967652 1 0.969510 0.9901 1 1 T 1.0 P -0.928 T 0.0 T 0.0 T Pathogenic 4_79391020_C->T 4 79391020 79391020 C T snp 1000.77 1/1 75 30 0 30 1.0 intronic rs7681619 FRAS1 AR NM_025074 exon51 c.411968-111C>T 0.942692 1 Uncertain 4_79391036_T->C 4 79391036 79391036 T C snp 1280.77 1/1 93 44 0 44 1.0 intronic rs1496602 FRAS1 AR NM_025074 exon51 c.411968-95T>C 0.943091 1 Uncertain 4_79391256_T->C 4 79391256 79391256 T C snp 3302.77 1/1 99 113 0 113 1.0 intronic rs7664505 FRAS1 AR NM_025074 exon51 c.412082+11T>C 0.95607 1 0.955288 0.9867 1 Uncertain 4_79391424_C->T 4 79391424 79391424 C T snp 139.03 1/1 12 4 0 4 1.0 intronic rs6533688 FRAS1 AR NM_025074 exon51 c.412082+179C>T 0.677516 0.7887 Uncertain 4_79394836_C->G 4 79394836 79394836 C G snp 119.78 0/1 27 5 1 4 0.8 intronic rs35583270 FRAS1 AR NM_025074 exon53 c.415588+85C>G 0.276558 0.3214 Uncertain 4_79400868_C->T 4 79400868 79400868 C T snp 475.77 0/1 99 37 20 17 0.46 exonic rs11098194 FRAS1 AR synonymous SNV NM_025074 exon56 c.C8439T p.D2813D 0.291334 0.3284 0.310798 0.3904 0.3412 1.000 P -0.928 T Likely benign 4_79403146_A->T 4 79403146 79403146 A T snp 1073.77 0/1 99 71 34 37 0.52 intronic rs34505482 FRAS1 AR NM_025074 exon57 c.423955+28A>T 0.266573 0.2728 0.282751 0.3438 0.2634 Uncertain 4_79409997_T->C 4 79409997 79409997 T C snp 219.84 1/1 18 7 0 7 1.0 intronic rs1496603 FRAS1 AR NM_025074 exon59 c.430865-31T>C 0.802516 0.995 0.721013 0.8261 0.9966 Uncertain 4_79420864_T->C 4 79420864 79420864 T C snp 460.77 0/1 99 24 9 15 0.63 intronic rs7677541 FRAS1 AR NM_025074 exon61 c.441711-10T>C 0.59385 0.6806 0.510384 0.5086 0.7086 Uncertain 4_79420869_C->T 4 79420869 79420869 C T snp 460.77 0/1 99 25 10 15 0.6 splicing rs76630865 FRAS1 AR NM_025074 exon61 c.441711-5C>T 0.172524 0.2113 0.140555 0.1790 0.2202 Pathogenic 4_79420870_C->G 4 79420870 79420870 C G snp 453.77 0/1 99 26 11 15 0.58 splicing rs7695038 FRAS1 AR NM_025074 exon61 c.441711-4C>G 0.591653 0.6786 0.480654 0.5076 0.7084 Pathogenic 4_79437155_C->T 4 79437155 79437155 C T snp 2330.77 0/1 99 215 110 105 0.49 exonic rs3749487 FRAS1 AR synonymous SNV NM_025074 exon66 c.C10377T p.T3459T 0.176518 0.2242 0.180590 0.1910 0.2497 1.0 P -0.985 T Likely benign 4_79440425_T->C 4 79440425 79440425 T C snp 177.77 0/1 99 10 4 6 0.6 intronic rs2903471 FRAS1 AR NM_025074 exon67 c.461321-59T>C 0.699681 0.6815 Uncertain 4_79443774_T->A 4 79443774 79443774 T A snp 1789.77 1/1 99 58 1 57 0.98 intronic rs931604 FRAS1 AR NM_025074 exon69 c.464639-28T>A 0.983626 1 0.987665 0.9946 1 Uncertain 4_79447763_T->C 4 79447763 79447763 T C snp 971.77 0/1 99 92 46 46 0.5 exonic rs34670941 FRAS1 AR nonsynonymous SNV NM_025074 exon70 c.T10877C p.V3626A 0.145367 0.2272 0.120415 0.1762 0.3079 0.53 T 0.0 P -0.905 T 0.0 T 0.0 T Pathogenic 4_79455714_C->G 4 79455714 79455714 C G snp 1897.77 0/1 99 179 91 88 0.49 exonic rs4975070 FRAS1 AR synonymous SNV NM_025074 exon71 c.C11037G p.P3679P 0.514976 0.7758 0.404988 0.4884 0.7841 1.0 P -0.987 T Likely benign 4_79455733_C->T 4 79455733 79455733 C T snp 1783.77 0/1 99 156 77 79 0.51 exonic rs4975139 FRAS1 AR synonymous SNV NM_025074 exon71 c.C11056T p.L3686L 0.514976 0.7758 0.405167 0.4884 0.7833 1.000 P -1.026 T Likely benign 4_79455858_T->A 4 79455858 79455858 T A snp 570.77 1/1 42 17 0 17 1.0 intronic rs4975140 FRAS1 AR NM_025074 exon71 c.476606+89T>A 0.934505 1 Uncertain 4_79494430_T->C 4 79494430 79494430 T C snp 1102.77 0/1 99 90 44 46 0.51 intronic rs5945 ANXA3 AU NM_005139 exon3 c.18794+9T>C 0.159545 0.3046 0.094187 0.1104 0.2820 Uncertain 4_79503230_T->C 4 79503230 79503230 T C snp 948.77 1/1 72 28 1 27 0.96 intronic rs1472365 ANXA3 AU NM_005139 exon5 c.27703-100T>C 0.670128 0.8661 Uncertain 4_79512800_T->A 4 79512800 79512800 T A snp 3841.77 1/1 99 137 0 137 1.0 intronic rs10003947 ANXA3 AU NM_005139 exon7 c.37150+23T>A 0.608427 0.8681 0.575504 0.6548 0.8733 Uncertain 4_79516818_A->T 4 79516818 79516818 A T snp 77.77 0/1 99 7 4 3 0.43 intronic ANXA3 AU NM_005139 exon9 c.41320-129A>T Uncertain 4_79518483_A->G 4 79518483 79518483 A G snp 1239.77 0/1 99 102 49 53 0.52 exonic rs746181482 ANXA3 AU synonymous SNV NM_005139 exon10 c.A645G p.E215E 1.652e-05 0.0002 Uncertain 4_79525404_G->A 4 79525404 79525404 G A snp 1940.77 0/1 99 162 72 90 0.56 intronic rs5942 ANXA3 AU NM_005139 exon12 c.49803-26G>A 0.18151 0.3006 0.105182 0.0976 0.2950 Uncertain 4_79531058_A->C 4 79531058 79531058 A C snp 44.74 1/1 6 2 0 2 1.0 intronic rs72607863 ANXA3 AU NM_005139 exon13 c.55582-151A>C 0.165535 0.2887 Uncertain 4_79531186_C->T 4 79531186 79531186 C T snp 551.77 0/1 99 58 33 25 0.43 intronic rs5944 ANXA3 AU NM_005139 exon13 c.55582-23C>T 0.480431 0.627 0.511994 0.5615 0.6479 Uncertain 4_79531202_C->T 4 79531202 79531202 C T snp 846.77 0/1 99 69 30 39 0.57 intronic rs5950 ANXA3 AU NM_005139 exon13 c.55582-7C>T 0.175519 0.2887 0.132400 0.1459 0.2837 Uncertain 4_79531308_C->T 4 79531308 79531308 C T snp 1252.77 0/1 99 125 65 60 0.48 UTR3 rs4612 ANXA3 AU 0.480431 0.627 0.510995 0.5613 0.6479 Uncertain 4_79531381_T->G 4 79531381 79531381 T G snp 733.77 0/1 99 59 27 32 0.54 UTR3 rs1042515 ANXA3 AU 0.175519 0.2887 Uncertain 4_79697540_A->G 4 79697540 79697540 A G snp 156.78 0/1 24 6 1 5 0.83 UTR5 rs139143500 BMP2K AU 0.236422 0.244 Uncertain 4_79741977_C->T 4 79741977 79741977 C T snp 88.77 0/1 72 8 3 5 0.63 intronic rs2903591 BMP2K AU NM_198892 exon2 c.49493-5213C>T 0.104832 0.2421 0 . Uncertain 4_79754717_T->- 4 79754717 79754717 T - indel 644.73 0/1 99 64 32 32 0.5 intronic rs112619803 BMP2K AU NM_198892 exon3 c.57038-18delT 0.253195 0.244 0.231255 0.2001 0.3167 Uncertain 4_79786856_G->A 4 79786856 79786856 G A snp 1606.77 0/1 99 165 94 71 0.43 exonic rs2288255 BMP2K AU nonsynonymous SNV NM_198892 exon10 c.G1213A p.G405S 0.0806709 0.2292 0.029525 0.0609 0.2251 0.54 T 0.0 P -1.020 T 0.573 P 0.095 P ID=CM0910256;DIS=High myopia, increased risk, association with;TAG=DP;PUB=19927351 DP Pathogenic 4_79786974_T->C 4 79786974 79786974 T C snp 496.77 0/1 99 25 10 15 0.6 intronic rs2288254 BMP2K AU NM_198892 exon10 c.89177+100T>C 0.511981 0.3313 Uncertain 4_79800080_G->A 4 79800080 79800080 G A snp 334.77 0/1 99 39 21 18 0.46 intronic rs10518205 BMP2K AU NM_198892 exon14 c.102348+35G>A 0.109824 0.2292 0.059299 0.0704 0.2259 Uncertain 4_79808528_GTTA->- 4 79808528 79808531 GTTA - indel 1500.73 0/1 99 64 26 38 0.59 intronic rs138528611 BMP2K AU NM_198892 exon15 c.110741+90_110741+93delGTTA 0.122404 0.2292 Uncertain 4_79831736_C->T 4 79831736 79831736 C T snp 323.77 0/1 99 35 23 12 0.34 intronic rs17003500 BMP2K AU NM_198892 exon16 c.134066-27C>T 0.109026 0.2232 0.055603 0.1141 0.3321 Uncertain 4_79832509_A->C 4 79832509 79832509 A C snp 1621.77 0/1 99 151 81 70 0.46 exonic rs12649750 BMP2K AU synonymous SNV NM_198892 exon16 c.A2808C p.P936P 0.111422 0.2351 0.057400 0.0699 0.2328 1.0 P -0.980 T Likely benign 4_79833281_A->T 4 79833281 79833281 A T snp 961.77 0/1 99 82 42 40 0.49 UTR3 rs76033792 BMP2K AU 0.0764776 0.2232 Uncertain 4_79833282_T->A 4 79833282 79833282 T A snp 954.77 0/1 99 82 42 40 0.49 UTR3 rs76520492 BMP2K AU 0.0764776 0.2232 Uncertain 4_79833283_T->C 4 79833283 79833283 T C snp 917.77 0/1 99 81 41 40 0.49 UTR3 rs79980998 BMP2K AU 0.0764776 0.2232 Uncertain 4_79843564_G->A 4 79843564 79843564 G A snp 506.77 0/1 99 57 33 24 0.42 intronic PAQR3 AU NM_001040202 exon2 c.3318-1446G>A Uncertain 4_79845007_C->A 4 79845007 79845007 C A snp 1022.77 0/1 99 76 33 43 0.57 splicing rs13108247 PAQR3 AU NM_001040202 exon2 c.3318-3C>A 0.712061 0.6597 0.779486 0.7491 0.6796 Pathogenic 4_79851526_G->C 4 79851526 79851526 G C snp 680.77 0/1 99 44 22 22 0.5 intronic rs2306443 PAQR3 AU NM_001040202 exon4 c.9787+47G>C 0.111222 0.2361 0.057858 0.0704 0.2360 Uncertain 4_79854117_T->C 4 79854117 79854117 T C snp 639.77 1/1 48 18 0 18 1.0 intronic rs10857058 PAQR3 AU NM_001040202 exon5 c.14582-2157T>C 0.823283 0.8948 Uncertain 4_79854436_T->C 4 79854436 79854436 T C snp 2909.77 1/1 99 87 0 87 1.0 intronic rs10857059 PAQR3 AU NM_001040202 exon5 c.14582-1838T>C 0.823283 0.8948 Uncertain 4_80905990_C->G 4 80905990 80905990 C G snp 1540.77 1/1 99 55 0 55 1.0 exonic rs12647691 ANTXR2 AR nonsynonymous SNV NM_058172 exon13 c.G1069C p.A357P 0.802716 0.9613 0.710176 0.7699 0.9468 1 T 1.000 P -0.974 T 0.0 T 0.0 T ID=CM121492;DIS=Anthrax toxin sensitivity, association with;TAG=DFP;PUB=22315420 DFP Pathogenic 4_80906131_C->T 4 80906131 80906131 C T snp 272.8 1/1 21 9 0 9 1.0 intronic rs4444771 ANTXR2 AR NM_001145794 exon4 c.7285+114C>T 0.686701 0.9623 Uncertain 4_80975372_A->T 4 80975372 80975372 A T snp 2074.77 1/1 99 71 0 71 1.0 intronic rs10745242 ANTXR2 AR NM_001145794 exon10 c.76693-53A>T 0.696885 0.9315 0.593777 Uncertain 4_80977078_T->G 4 80977078 80977078 T G snp 1562.77 1/1 99 54 0 54 1.0 intronic rs4594664 ANTXR2 AR NM_001145794 exon13 c.78353-7T>G 0.697284 0.9315 0.587453 0.7023 0.9504 Uncertain 4_80977297_T->A 4 80977297 80977297 T A snp 214.84 1/1 18 6 0 6 1.0 intronic rs4428232 ANTXR2 AR NM_001145794 exon13 c.78435+130T>A 0.29992 0.6935 Uncertain 4_81121524_T->A 4 81121524 81121524 T A snp 960.77 0/1 99 48 15 33 0.69 intronic rs11099079 PRDM8 AR NM_001099403 exon2 c.219+71T>A 0.348642 0.627 Uncertain 4_81124596_G->C 4 81124596 81124596 G C snp 2014.77 0/1 99 180 95 85 0.47 exonic rs12780 PRDM8 AR synonymous SNV NM_020226 exon10 c.G1980C p.R660R 0.348442 0.626 0.226430 0.3229 0.6323 Uncertain 4_81222286_T->G 4 81222286 81222286 T G snp 334.78 1/1 27 9 0 9 1.0 intergenic rs13119149 FGF5 AR 0.518371 0.6458 Uncertain 4_81529314_A->T 4 81529314 81529314 A T snp 155.77 0/1 99 13 6 7 0.54 intronic rs7693460 C4orf22 AU NM_001206997 exon4 c.272564-172A>T 0.401757 0.3681 Uncertain 4_81529380_T->C 4 81529380 81529380 T C snp 724.77 0/1 99 49 21 28 0.57 intronic rs2903671 C4orf22 AU NM_001206997 exon4 c.272564-106T>C 0.534345 0.6329 Uncertain 4_81529518_T->C 4 81529518 81529518 T C snp 3356.77 1/1 99 125 0 125 1.0 exonic rs2867782 C4orf22 AU nonsynonymous SNV NM_001206997 exon4 c.T365C p.I122T 0.956869 1 0.9604 1 0.8 T 0.0 P -0.995 T 0.0 T 0.001 T Pathogenic 4_81884610_-->T 4 81884610 81884610 - T indel 886.73 1/1 75 26 0 26 1.0 intronic rs11452353 C4orf22 AU NM_001206997 exon7 c.627748-60insT 0.967452 0.998 Uncertain 4_81884722_G->A 4 81884722 81884722 G A snp 3473.77 1/1 99 142 0 142 1.0 exonic rs1052325 C4orf22 AU nonsynonymous SNV NM_152770 exon6 c.G658A p.V220I 0.810503 0.9435 0.777069 0.8365 0.9393 0.21 T 0.000 P -1.041 T 0.0 T 0.001 T Pathogenic 4_81967150_G->A 4 81967150 81967150 G A snp 2435.77 0/1 99 173 78 95 0.55 exonic rs3733549 BMP3 AU nonsynonymous SNV NM_001201 exon2 c.G575A p.R192Q 0.127995 0.127 0.068891 0.1045 0.1431 0.38 T 0.991 P -0.988 T 0.039 T 0.013 T Pathogenic 4_81967188_C->T 4 81967188 81967188 C T snp 4489.77 1/1 99 148 0 148 1.0 exonic rs6831040 BMP3 AU nonsynonymous SNV NM_001201 exon2 c.C613T p.L205F 0.998802 1 0.998924 0.9996 1 0.13 T 0.0 P -1.057 T 0.015 T 0.012 T Pathogenic 4_81973224_A->T 4 81973224 81973224 A T snp 1646.77 1/1 99 64 0 64 1.0 intronic rs12647814 BMP3 AU NM_001201 exon3 c.22060-1274A>T 0.923323 1 Uncertain 4_81973260_C->T 4 81973260 81973260 C T snp 1542.77 1/1 99 65 0 65 1.0 intronic rs1390318 BMP3 AU NM_001201 exon3 c.22060-1238C>T 0.999002 1 Uncertain 4_82126316_T->C 4 82126316 82126316 T C snp 159.77 0/1 63 7 2 5 0.71 intronic rs3114135 PRKG2 AU NM_001282485 exon18 c.115353+102T>C 0.58147 0.4851 Uncertain 4_83350954_C->T 4 83350954 83350954 C T snp 139.03 1/1 12 5 0 5 1.0 UTR5 rs2516817 HNRNPDL AD 0.297724 0.6121 Uncertain 4_83352177_-->TT 4 83352177 83352177 - TT indel 3550.73 1/1 99 78 0 78 1.0 intronic rs10646358 ENOPH1 AU NM_021204 exon1 c.84+111insTT 0.881789 0.999 Uncertain 4_83375719_T->C 4 83375719 83375719 T C snp 231.77 0/1 99 11 4 7 0.64 intronic rs6853622 ENOPH1 AU NM_021204 exon4 c.23892-155T>C 0.772564 0.5655 Uncertain 4_83411197_T->C 4 83411197 83411197 T C snp 1962.77 0/1 99 180 95 85 0.47 intronic rs2276884 TMEM150C AU NM_001080506 exon2 c.4550-16T>C 0.168331 0.1389 0.191037 0.1963 0.1559 Uncertain 4_83483562_C->T 4 83483562 83483562 C T snp 1262.77 1/1 57 41 1 40 0.98 upstream rs35866205 TMEM150C AU 0.317292 0.378 Uncertain 4_83552809_A->C 4 83552809 83552809 A C snp 1116.77 1/1 81 34 0 34 1.0 intronic rs3857138 SCD5 AU NM_001037582 exon1 c.191+139A>C 0.910144 0.9931 Uncertain 4_83582064_G->T 4 83582064 83582064 G T snp 2404.77 1/1 99 95 0 95 1.0 exonic rs3733228 SCD5 AU nonsynonymous SNV NM_024906 exon4 c.C736A p.L246M 0.302716 0.4762 0.241811 0.3256 0.4532 0.03 T 0.988 P -0.883 T 0.471 P 0.323 P Pathogenic 4_83582211_C->G 4 83582211 83582211 C G snp 1150.77 1/1 81 44 0 44 1.0 exonic rs3733227 SCD5 AU nonsynonymous SNV NM_024906 exon4 c.G589C p.E197Q 0.608427 0.623 0.606797 0.6538 0.6072 0.3 T 0.001 P -0.974 T 0.0 T 0.0 T Pathogenic 4_83602150_C->T 4 83602150 83602150 C T snp 56.74 1/1 6 2 0 2 1.0 intronic rs2276883 SCD5 AU NM_024906 exon2 c.20037+85C>T 0.559105 0.5873 Uncertain 4_83626382_C->A 4 83626382 83626382 C A snp 1619.77 1/1 99 56 0 56 1.0 intronic rs1876218 SCD5 AU NM_024906 exon3 c.44407-53C>A 0.316494 0.4296 Uncertain 4_83626674_G->A 4 83626674 83626674 G A snp 2274.77 1/1 99 80 0 80 1.0 intronic rs6853042 SCD5 AU NM_024906 exon3 c.44538+108G>A 0.970447 0.999 Uncertain 4_83763690_T->C 4 83763690 83763690 T C snp 1138.77 1/1 84 37 0 37 1.0 intronic rs13102775 SEC31A AU NM_016211 exon6 c.23408+56T>C 0.23123 0.2579 Uncertain 4_83763809_T->C 4 83763809 83763809 T C snp 56.74 1/1 6 2 0 2 1.0 intronic rs4615165 SEC31A AU NM_016211 exon6 c.23408+175T>C 0.583067 0.5079 Uncertain 4_83765691_G->T 4 83765691 83765691 G T snp 1666.77 1/1 99 64 0 64 1.0 intronic rs11737142 SEC31A AU NM_016211 exon7 c.25436+29G>T 0.23103 0.2579 0.199677 0.2220 0.2672 Uncertain 4_83774687_C->G 4 83774687 83774687 C G snp 3389.77 1/1 99 113 1 112 0.99 intronic rs13112559 SEC31A AU NM_016211 exon10 c.34496-35C>G 0.232029 0.2579 0.200600 0.2231 0.2687 Uncertain 4_83776301_A->T 4 83776301 83776301 A T snp 136.03 1/1 12 4 0 4 1.0 intronic rs4693056 SEC31A AU NM_016211 exon11 c.35956+119A>T 0.582668 0.5079 Uncertain 4_83778699_T->A 4 83778699 83778699 T A snp 738.77 1/1 57 26 0 26 1.0 intronic rs6815179 SEC31A AU NM_016211 exon13 c.38615-142T>A 0.23103 0.2579 Uncertain 4_83783042_C->T 4 83783042 83783042 C T snp 174.9 1/1 15 5 0 5 1.0 intronic rs13133248 SEC31A AU NM_001191049 exon14 c.42635+181C>T 0.234824 0.2599 Uncertain 4_83784337_G->A 4 83784337 83784337 G A snp 330.78 1/1 27 10 0 10 1.0 intronic rs7666917 SEC31A AU NM_016211 exon14 c.44244-133G>A 0.996805 1 Uncertain 4_83787845_G->A 4 83787845 83787845 G A snp 646.77 1/1 48 20 0 20 1.0 intronic rs7356522 SEC31A AU NM_016211 exon16 c.47734-115G>A 0.949481 1 Uncertain 4_83787875_T->C 4 83787875 83787875 T C snp 1348.77 1/1 96 47 0 47 1.0 intronic rs41279293 SEC31A AU NM_016211 exon16 c.47734-85T>C 0.202077 0.2589 Uncertain 4_83788344_A->T 4 83788344 83788344 A T snp 5278.77 1/1 99 195 0 195 1.0 exonic rs2045478 SEC31A AU synonymous SNV NM_001077206 exon9 c.T1008A p.G336G 0.996805 1 0.996694 0.9990 1 Uncertain 4_83788562_T->C 4 83788562 83788562 T C snp 1312.77 1/1 96 35 0 35 1.0 intronic rs2045479 SEC31A AU NM_016211 exon17 c.48243+93T>C 0.949281 1 Uncertain 4_83822457_C->T 4 83822457 83822457 C T snp 99.28 1/1 9 4 0 4 1.0 intronic rs13130011 THAP9 AU NM_024672 exon1 c.80+422C>T 0.234026 0.2698 Uncertain 4_83825823_A->G 4 83825823 83825823 A G snp 2304.77 1/1 99 68 0 68 1.0 intronic rs13140582 THAP9 AU NM_024672 exon2 c.3933-65A>G 0.217851 0.2718 Uncertain 4_83827822_A->G 4 83827822 83827822 A G snp 3696.77 1/1 99 126 1 125 0.99 intronic rs3214025 THAP9 AU NM_024672 exon3 c.5825+42A>G 0.637181 0.7986 0.549992 0.4827 0.8009 Uncertain 4_83838217_G->A 4 83838217 83838217 G A snp 7531.77 1/1 99 250 0 250 1.0 exonic rs1031639 THAP9 AU nonsynonymous SNV NM_024672 exon5 c.G852A p.M284I 0.97484 1 0.978471 0.9928 1 0.55 T 0.000 P -1.044 T 0.0 T 0.0 T Pathogenic 4_83839799_A->G 4 83839799 83839799 A G snp 2436.77 1/1 99 81 0 81 1.0 exonic rs6535411 THAP9 AU nonsynonymous SNV NM_024672 exon5 c.A2434G p.N812D 0.97484 1 0.978622 0.9930 1 0.87 T 0.0 P -0.915 T 0.0 T 0.0 T Pathogenic 4_83839842_T->G 4 83839842 83839842 T G snp 1064.77 0/1 99 70 28 42 0.6 exonic rs186577808 THAP9 AU nonsynonymous SNV NM_024672 exon5 c.T2477G p.V826G 0.000798722 0.004 0.0002 0.0029 0 D 1 N -0.444 T 0.164 T 0.04 T Pathogenic 4_83852065_G->A 4 83852065 83852065 G A snp 2264.77 1/1 99 71 0 71 1.0 intronic rs985899 LIN54 AU NM_001288997 exon2 c.2841-30G>A 0.996006 1 0.996540 0.9989 1 Uncertain 4_83857108_A->G 4 83857108 83857108 A G snp 7033.77 1/1 99 250 1 249 1.0 intronic rs6535413 LIN54 AU NM_001288997 exon3 c.7879-25A>G 0.637181 0.7986 0.051822 0.4898 0.8000 Uncertain 4_83857109_T->A 4 83857109 83857109 T A snp 7237.77 1/1 99 249 1 248 1.0 intronic rs6535414 LIN54 AU NM_001288997 exon3 c.7879-24T>A 0.637181 0.7986 0.055052 0.4897 0.7999 Uncertain 4_83857402_T->C 4 83857402 83857402 T C snp 1322.77 1/1 99 37 0 37 1.0 intronic rs6535415 LIN54 AU NM_001288997 exon4 c.8177-29T>C 0.996805 1 0.996766 0.9989 1 Uncertain 4_83860527_A->G 4 83860527 83860527 A G snp 94.28 1/1 9 3 0 3 1.0 intronic rs921992 LIN54 AU NM_001288997 exon7 c.11437-164A>G 0.63758 0.7996 Uncertain 4_83900043_A->G 4 83900043 83900043 A G snp 4497.77 1/1 99 168 0 168 1.0 exonic rs6535422 LIN54 AU synonymous SNV NM_001115007 exon3 c.T138C p.V46V 0.996805 1 0.996694 0.9990 1 Uncertain 4_83900260_A->G 4 83900260 83900260 A G snp 1043.77 1/1 78 31 0 31 1.0 intronic rs7674484 LIN54 AU NM_001288997 exon11 c.50905+101A>G 0.995008 1 Uncertain 4_83977947_A->G 4 83977947 83977947 A G snp 170.9 1/1 15 5 0 5 1.0 intronic rs2868739 COPS4 AU NM_001258006 exon5 c.21701-131A>G 0.995008 1 Uncertain 4_83977975_C->T 4 83977975 83977975 C T snp 305.78 1/1 24 9 0 9 1.0 intronic rs6535432 COPS4 AU NM_001258006 exon5 c.21701-103C>T 0.994409 1 Uncertain 4_83984433_A->G 4 83984433 83984433 A G snp 251.77 0/1 99 21 11 10 0.48 intronic rs13116756 COPS4 AU NM_001258006 exon7 c.28022+34A>G 0.207468 0.2698 0.175688 0.1982 0.2653 Uncertain 4_83986381_ATTTA->- 4 83986381 83986385 ATTTA - indel 505.73 0/1 99 27 18 9 0.33 intronic rs10555484 COPS4 AU NM_001258006 exon8 c.31213-1209_31213-1205delATTTA 0.317891 0.506 Uncertain 4_83989516_T->C 4 83989516 83989516 T C snp 704.77 1/1 51 25 1 24 0.96 intronic rs2868747 COPS4 AU NM_016129 exon9 c.33213-74T>C 0.994209 1 Uncertain 4_84028838_G->A 4 84028838 84028838 G A snp 50.74 1/1 6 2 0 2 1.0 intronic rs4693563 PLAC8 AU NM_016619 exon4 c.13117-118G>A 0.445687 0.6042 Uncertain 4_84189012_-->T 4 84189012 84189012 - T indel 106.84 0/1 16 9 1 8 0.89 intronic rs11448409 COQ2 AR,AD NM_015697 exon2 c.3576+85insT 0.773762 0.874 Uncertain 4_84190901_T->C 4 84190901 84190901 T C snp 348.78 1/1 27 10 0 10 1.0 intronic rs6852861 COQ2 AR,AD NM_015697 exon3 c.5661-111T>C 0.659744 0.871 Uncertain 4_84191031_A->G 4 84191031 84191031 A G snp 3888.77 1/1 99 149 1 148 0.99 exonic rs6535454 COQ2 AR,AD synonymous SNV NM_015697 exon5 c.T894C p.D298D 0.778155 0.871 0.736851 0.7380 0.8450 CLINSIG=probable-non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=no_assertion_criteria_provided|criteria_provided\x2c_single_submitter;CLNACC=RCV000116808.2|RCV000124533.1;CLNDSDB=MedGen|MedGen;CLNDSDBID=CN169374|CN221809 Uncertain 4_84193366_C->T 4 84193366 84193366 C T snp 1385.77 1/1 99 47 0 47 1.0 intronic rs6841889 COQ2 AR,AD NM_015697 exon4 c.7974+41C>T 0.730631 0.872 0.681454 0.7265 0.8491 Uncertain 4_84205618_A->C 4 84205618 84205618 A C snp 1725.77 1/1 99 63 0 63 1.0 intronic rs13113787 COQ2 AR,AD NM_015697 exon7 c.20313-46A>C 0.894968 0.9931 0.901517 0.9468 0.9933 Uncertain 4_84205872_C->A 4 84205872 84205872 C A snp 2133.77 1/1 99 75 1 74 0.99 exonic rs6818847 COQ2 AR,AD nonsynonymous SNV NM_015697 exon1 c.G196T p.V66L 0.64976 0.8879 0.685193 0.7249 0.9008 0.8 T 0.0 P -0.987 T 0.0 T 0.0 T CLINSIG=probable-non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=no_assertion_criteria_provided|criteria_provided\x2c_single_submitter;CLNACC=RCV000116807.2|RCV000124541.1;CLNDSDB=MedGen|MedGen;CLNDSDBID=CN169374|CN221809 Pathogenic 4_84223461_G->C 4 84223461 84223461 G C snp 3400.77 1/1 99 118 0 118 1.0 intronic rs4285078 HPSE AU NM_006665 exon3 c.6925+40G>C 0.976038 1 0.975704 0.9933 1 Uncertain 4_84229897_T->C 4 84229897 84229897 T C snp 174.9 1/1 15 5 0 5 1.0 intronic rs4453925 HPSE AU NM_006665 exon5 c.13501-100T>C 0.816693 0.869 Uncertain 4_84230619_T->C 4 84230619 84230619 T C snp 2057.77 1/1 99 78 0 78 1.0 exonic rs11099592 HPSE AU nonsynonymous SNV NM_001199830 exon6 c.A746G p.K249R 0.813299 0.87 0.798630 0.7844 0.8695 0.36 T 0.000 P -0.988 T 0.035 T 0.046 T Pathogenic 4_84230878_T->G 4 84230878 84230878 T G snp 94.28 1/1 9 3 0 3 1.0 intronic rs11732810 HPSE AU NM_006665 exon6 c.14152+230T>G 0.724241 0.87 Uncertain 4_84232104_T->C 4 84232104 84232104 T C snp 862.77 1/1 66 22 0 22 1.0 intronic rs6535455 HPSE AU NM_006665 exon8 c.15547+61T>C 0.813698 0.87 Uncertain 4_84234190_A->G 4 84234190 84234190 A G snp 371.77 1/1 30 16 2 14 0.88 intronic rs6818355 HPSE AU NM_006665 exon9 c.17770-76A>G Uncertain 4_84234229_G->A 4 84234229 84234229 G A snp 2595.77 1/1 99 87 0 87 1.0 intronic rs6840520 HPSE AU NM_006665 exon9 c.17770-37G>A 0.813498 0.869 0.799938 0.7877 0.8705 Uncertain 4_84240328_-->C 4 84240328 84240328 - C indel 415.74 1/1 30 10 0 10 1.0 intronic rs55826538 HPSE AU NM_006665 exon10 c.24000-168insC 0.811302 0.871 Uncertain 4_84240654_G->A 4 84240654 84240654 G A snp 1545.77 1/1 99 50 0 50 1.0 intronic rs12501123 HPSE AU NM_006665 exon10 c.24126+32G>A 0.813498 0.871 0.798939 0.7852 0.8703 Uncertain 4_84240680_G->T 4 84240680 84240680 G T snp 858.77 1/1 63 29 0 29 1.0 intronic rs12501124 HPSE AU NM_006665 exon10 c.24126+58G>T 0.813698 0.87 Uncertain 4_84243549_A->G 4 84243549 84243549 A G snp 1768.77 0/1 99 136 64 72 0.53 intronic rs4328905 HPSE AU NM_006665 exon11 c.27021+32A>G 0.267173 0.4177 0.169306 0.1931 0.4368 Uncertain 4_84243686_T->C 4 84243686 84243686 T C snp 99.28 1/1 9 3 0 3 1.0 intronic rs7696355 HPSE AU NM_006665 exon11 c.27021+169T>C 0.992212 1 Uncertain 4_84347363_A->G 4 84347363 84347363 A G snp 786.77 0/1 99 35 10 25 0.71 intronic rs4693624 HELQ AU NM_001297756 exon5 c.18640+118A>G 0.403355 0.6796 Uncertain 4_84352750_T->C 4 84352750 84352750 T C snp 221.77 0/1 99 22 13 9 0.41 intronic rs12645412 HELQ AU NM_001297756 exon8 c.24211-66T>C 0.404952 0.6806 Uncertain 4_84353154_T->C 4 84353154 84353154 T C snp 59.74 1/1 6 3 0 3 1.0 intronic rs2047210 HELQ AU NM_001297756 exon9 c.24673-124T>C 0.401558 0.6806 Uncertain 4_84362443_T->G 4 84362443 84362443 T G snp 154.77 0/1 99 33 26 7 0.21 intronic rs4693088 HELQ AU NM_001297756 exon12 c.33852-14T>G 0.514377 0.6756 0.546231 0.4691 0.6721 Uncertain 4_84364751_A->G 4 84364751 84364751 A G snp 549.77 0/1 99 47 22 25 0.53 exonic rs7665103 HELQ AU synonymous SNV NM_133636 exon6 c.T1482C p.I494I 0.507788 0.6736 0.419732 0.4668 0.6643 Uncertain 4_84364808_T->C 4 84364808 84364808 T C snp 417.77 0/1 99 33 15 18 0.55 intronic rs6535473 HELQ AU NM_001297756 exon13 c.36162+41T>C 0.516374 0.6756 0.439543 0.5388 0.6726 Uncertain 4_84367050_G->A 4 84367050 84367050 G A snp 71.77 0/1 99 9 6 3 0.33 intronic rs11099599 HELQ AU NM_001297756 exon14 c.38561-116G>A 0.518171 0.6786 Uncertain 4_84367286_G->A 4 84367286 84367286 G A snp 1158.77 0/1 99 86 34 52 0.6 intronic rs11099600 HELQ AU NM_001297756 exon14 c.38634+47G>A 0.560703 0.6786 0.486545 0.5320 0.6646 Uncertain 4_84370091_A->G 4 84370091 84370091 A G snp 1077.77 0/1 99 68 24 44 0.65 exonic rs13141136 HELQ AU synonymous SNV NM_133636 exon3 c.T1036C p.L346L 0.414537 0.6766 0.322484 0.4336 0.6658 Uncertain 4_84370125_A->- 4 84370125 84370125 A - indel 450.73 0/1 37 29 4 25 0.86 intronic rs10718573 HELQ AU NM_001297756 exon16 c.41509+11delA 0.676518 0.6935 0.6132 0.6675 Uncertain 4_84374480_C->T 4 84374480 84374480 C T snp 662.77 0/1 99 95 62 33 0.35 exonic rs1494961 HELQ AU nonsynonymous SNV NM_133636 exon2 c.G916A p.V306I 0.664537 0.6776 0.594418 0.5623 0.6645 0.34 T 0.000 P -1.011 T 0.0 T 0.0 T ID=CM112383;DIS=Upper aerodigestive tract cancer, increased risk;TAG=DP;PUB=21437268 DP Pathogenic 4_84376743_A->T 4 84376743 84376743 A T snp 6714.77 1/1 99 239 0 239 1.0 exonic rs6831595 HELQ AU nonsynonymous SNV NM_133636 exon1 c.T104A p.V35E 1 1 0.999923 1.0000 1 1 T 0.0 P -0.964 T 0.0 T 0.0 T Pathogenic 4_84377497_A->G 4 84377497 84377497 A G snp 383.77 0/1 99 24 10 14 0.58 intronic rs2279658 MRPS18C AU NM_016067 exon1 c.100+167A>G 0.414537 0.6756 Uncertain 4_84380955_G->T 4 84380955 84380955 G T snp 752.77 0/1 99 56 23 33 0.59 splicing rs12505955 MRPS18C AU NM_016067 exon4 c.3720+5G>T 0.41893 0.6756 0.324507 0.4311 0.6653 Pathogenic 4_84381036_A->- 4 84381036 84381036 A - indel 318.73 0/1 99 20 7 13 0.65 intronic rs34365268 MRPS18C AU NM_016067 exon4 c.3720+86delA 0.41893 0.6756 Uncertain 4_84383810_C->T 4 84383810 84383810 C T snp 745.77 0/1 99 49 26 23 0.47 exonic rs12642536 FAM175A AU nonsynonymous SNV NM_139076 exon9 c.G1042A p.A348T 0.41893 0.6756 0.327234 0.4308 0.6643 0.02 T 0.000 P -0.934 T 0.822 T 0.436 P Pathogenic 4_84393475_C->T 4 84393475 84393475 C T snp 40.77 0/1 69 8 5 3 0.38 intronic rs6535478 FAM175A AU NM_139076 exon6 c.9820+34C>T 0.684704 0.6776 0.620870 0.5871 0.6694 Uncertain 4_84397590_A->C 4 84397590 84397590 A C snp 77.77 0/1 99 9 6 3 0.33 intronic rs17352803 FAM175A AU NM_139076 exon7 c.14174-205A>C 0.415535 0.6756 Uncertain 4_84397620_G->A 4 84397620 84397620 G A snp 112.77 0/1 99 13 8 5 0.38 intronic rs17352824 FAM175A AU NM_139076 exon7 c.14174-175G>A 0.659944 0.6766 Uncertain 4_84403491_-->G 4 84403491 84403491 - G indel 190.73 0/1 99 16 9 7 0.44 intronic rs35608460 FAM175A AU NM_139076 exon8 c.19776+94insG 0.664736 0.6776 Uncertain 4_84406091_-->G 4 84406091 84406091 - G indel 836.73 0/1 99 37 12 25 0.68 intronic rs139863124 FAM175A AU NM_139076 exon9 c.22517-47insG 0.110823 0.2798 0.039355 0.0520 0.2713 Uncertain 4_84406290_T->C 4 84406290 84406290 T C snp 974.77 0/1 99 92 52 40 0.43 UTR5 FAM175A AU Uncertain 4_84458001_A->G 4 84458001 84458001 A G snp 527.77 0/1 99 42 19 23 0.55 intronic rs55833887 AGPAT9 AU NM_032717 exon1 c.141+85A>G 0.307109 0.2639 Uncertain 4_84458028_C->G 4 84458028 84458028 C G snp 440.77 0/1 99 26 9 17 0.65 intronic rs56139069 AGPAT9 AU NM_032717 exon1 c.141+112C>G 0.307109 0.2639 Uncertain 4_84465613_C->T 4 84465613 84465613 C T snp 112.77 0/1 99 10 5 5 0.5 intronic rs10516690 AGPAT9 AU NM_032717 exon2 c.7913-75C>T 0.28774 0.2609 Uncertain 4_84465855_A->C 4 84465855 84465855 A C snp 75.77 0/1 30 4 1 3 0.75 intronic rs28360718 AGPAT9 AU NM_032717 exon2 c.7980+100A>C 0.297125 0.2609 Uncertain 4_84502602_A->C 4 84502602 84502602 A C snp 802.77 0/1 99 39 14 25 0.64 intronic rs17355321 AGPAT9 AU NM_032717 exon3 c.44939-112A>C 0.213059 0.3403 Uncertain 4_84509465_-->G 4 84509465 84509465 - G indel 10810.7 1/1 99 242 0 242 1.0 intronic rs11394944 AGPAT9 AU NM_032717 exon5 c.51677+13insG 0.999002 1 0.994090 0.9950 1 Uncertain 4_84515968_C->T 4 84515968 84515968 C T snp 1423.77 0/1 99 117 61 56 0.48 intronic rs3733327 AGPAT9 AU NM_032717 exon7 c.58222-29C>T 0.236222 0.3085 0.216131 0.2733 0.3085 Uncertain 4_84518558_C->T 4 84518558 84518558 C T snp 43.77 0/1 72 9 6 3 0.33 intronic rs3733329 AGPAT9 AU NM_032717 exon9 c.60807-24C>T 0.236022 0.3085 0.215900 0.2784 0.3099 Uncertain 4_84519076_A->G 4 84519076 84519076 A G snp 454.77 1/1 36 12 0 12 1.0 intronic rs1379974 AGPAT9 AU NM_032717 exon10 c.61428-127A>G 0.57528 0.5903 Uncertain 4_84519776_T->- 4 84519776 84519776 T - indel 494.73 0/1 99 52 23 29 0.56 intronic rs548759376 AGPAT9 AU NM_032717 exon11 c.62021-20delT 0.290935 0.3274 0.266672 0.3680 0.3960 Uncertain 4_84525974_T->- 4 84525974 84525974 T - indel 5226.73 1/1 99 179 2 177 0.99 UTR3 rs35602893 AGPAT9 AU 0.543331 0.5923 Uncertain 4_85166020_C->T 4 85166020 85166020 C T snp 1136.77 0/1 99 77 36 41 0.53 ncRNA_intronic rs348700 LOC101928978 AU 0.262979 0.1359 Uncertain 4_85414741_C->T 4 85414741 85414741 C T snp 1105.77 1/1 84 37 0 37 1.0 intronic rs13123447 NKX6-1 AU NM_006168 exon1 c.261+39C>T 0.355032 0.3819 0.318776 0.3366 0.3893 Uncertain 4_85416797_T->G 4 85416797 85416797 T G snp 139.03 1/1 12 4 0 4 1.0 intronic rs2278671 NKX6-1 AU NM_006168 exon2 c.2383-27T>G 0.347444 0.378 0.312779 0.3360 0.3861 Uncertain 4_85465391_T->- 4 85465391 85465391 T - indel 724.73 1/1 58 33 2 31 0.94 intergenic rs3835099 NKX6-1 AU 0.334465 0.4306 Uncertain 4_85634264_T->A 4 85634264 85634264 T A snp 6124.77 1/1 99 227 0 227 1.0 intronic rs61624886 WDFY3 AU NM_014991 exon18 c.40291-47T>A 0.0379393 0.1657 0.001615 0.0191 0.1720 Uncertain 4_85710824_C->A 4 85710824 85710824 C A snp 934.77 1/1 69 27 0 27 1.0 intronic rs13137042 WDFY3 AU NM_014991 exon47 c.116858-54C>A Uncertain 4_85765541_T->C 4 85765541 85765541 T C snp 1265.77 1/1 93 43 0 43 1.0 intronic rs2869216 WDFY3 AU NM_014991 exon63 c.168396+3125T>C 0.457867 0.5198 Uncertain 4_86491584_-->T 4 86491584 86491584 - T indel 174 1/1 12 11 2 9 0.82 intronic rs202209554 ARHGAP24 AU Uncertain 4_86643155_A->C 4 86643155 86643155 A C snp 2483.77 0/1 99 208 101 107 0.51 intronic rs17010697 ARHGAP24 AU NM_001025616 exon3 c.151431+30A>C 0.286741 0.3323 0.203752 0.2478 0.3698 Uncertain 4_86852097_G->T 4 86852097 86852097 G T snp 1158.77 0/1 99 98 44 54 0.55 intronic rs61758879 ARHGAP24 AU NM_031305 exon1 c.112-98G>T 0.0317492 0.0972 0.012379 0.0175 0.0939 0.46 T 0.984 N -1.117 T 0.996 D 0.988 D Uncertain 4_86852208_T->- 4 86852208 86852208 T - indel 745.73 0/1 99 60 36 24 0.4 intronic rs60002814 ARHGAP24 AU NM_031305 exon1 c.112+13delT 0.229433 0.2798 0.155726 0.2052 0.2559 Uncertain 4_86863467_T->A 4 86863467 86863467 T A snp 807.77 1/1 60 25 0 25 1.0 intronic rs11097083 ARHGAP24 AU NM_001042669 exon3 c.18609+41T>A 0.242812 0.3145 0.172332 0.2390 0.2887 Uncertain 4_86915848_T->C 4 86915848 86915848 T C snp 5442.77 1/1 99 199 4 195 0.98 exonic rs10003909 ARHGAP24 AU synonymous SNV NM_001025616 exon9 c.T1041C p.N347N 0.354433 0.3145 0.299093 0.2809 0.2886 Uncertain 4_86915923_G->A 4 86915923 86915923 G A snp 4543.77 1/1 99 159 1 158 0.99 exonic rs11547776 ARHGAP24 AU synonymous SNV NM_001025616 exon9 c.G1116A p.R372R 0.254593 0.3135 0.194756 0.2510 0.2889 Uncertain 4_86921609_A->C 4 86921609 86921609 A C snp 114.77 0/1 99 88 66 22 0.25 intronic rs199738201 ARHGAP24 AU NM_001042669 exon8 c.76814-22A>C 0.00738818 0.0079 0.0084 0.0018 Uncertain 4_86921612_C->G 4 86921612 86921612 C G snp 1534.03 0/1 12 93 26 67 0.72 intronic rs12505097 ARHGAP24 AU NM_001042669 exon8 c.76814-19C>G 0.3025 0.3010 Uncertain 4_86952610_C->- 4 86952610 86952610 C - indel 2033.73 0/1 99 99 45 54 0.55 intronic rs749816065 MAPK10 AU NM_138981 exon3 c.14073+26delC 0.000080 0.0002 0.0030 Uncertain 4_87024228_-->TGTGTG 4 87024228 87024228 - TGTGTG indel 1646.73 ./1 99 21 0 21 1.0 intronic MAPK10 AU NM_138980 exon9 c.85958-110insTGTGTG Uncertain 4_87024228_-->TGTGTGTGTGTG 4 87024228 87024228 - TGTGTGTGTGTG indel 1646.73 ./1 99 21 0 21 1.0 intronic MAPK10 AU NM_138980 exon9 c.85958-110insTGTGTGTGTGTG Uncertain 4_87024409_T->C 4 87024409 87024409 T C snp 1474.77 1/1 99 56 0 56 1.0 intronic rs28529458 MAPK10 AU NM_138980 exon9 c.86017+12T>C 0.59345 0.748 0.538751 0.6581 0.7487 Uncertain 4_87808810_-->CA 4 87808810 87808810 - CA indel 4610.73 1/1 99 92 0 92 1.0 intronic rs3035472 C4orf36 AU 0.492812 0.5813 Uncertain 4_87809387_G->T 4 87809387 87809387 G T snp 6906.77 1/1 99 245 0 245 1.0 exonic rs1550931 C4orf36 AU nonsynonymous SNV NM_144645 exon3 c.C107A p.S36Y 0.883387 0.9127 0.906351 0.9570 0.9327 1 T 0.0 P -0.969 T 0.0 T 0.0 T Pathogenic 4_87812587_A->- 4 87812587 87812587 A - indel 2831.73 1/1 99 111 1 110 0.99 intronic rs397879049 C4orf36 AU NM_144645 exon4 c.3696-21delA 0.874601 0.9107 0.9314 0.9125 Uncertain 4_87957989_T->C 4 87957989 87957989 T C snp 4154.77 1/1 99 150 3 147 0.98 intronic rs340629 AFF1 AU NM_005935 exon2 c.38758-9328T>C 0.891573 0.8373 0.9523 0.8693 Uncertain 4_88026967_A->G 4 88026967 88026967 A G snp 1300.77 0/1 99 150 83 67 0.45 exonic rs535839682 AFF1 AU nonsynonymous SNV NM_005935 exon9 c.A1325G p.E442G 0.000199681 4.942e-05 0.0002 0.13 T 0.992 D -0.211 T 0.987 D 0.842 D Pathogenic 4_88048163_-->T 4 88048163 88048163 - T indel 3579.73 1/1 99 131 0 131 1.0 intronic rs11448202 AFF1 AU NM_005935 exon14 c.119618-14insT 0.213059 0.253 0.2324 0.2542 Uncertain 4_88048316_C->- 4 88048316 88048316 C - indel 3661.73 1/1 99 113 1 112 0.99 intronic rs112686186 AFF1 AU NM_005935 exon14 c.119710+47delC 0.459065 0.5377 0.3714 0.2787 ID=COSN168986;OCCURENCE=1(large_intestine) Uncertain 4_88048318_T->C 4 88048318 88048318 T C snp 496.77 0/1 99 86 46 40 0.47 intronic rs28700060 AFF1 AU NM_005935 exon14 c.119710+49T>C 0.0539137 0.0387 0.0813 0.1202 Uncertain 4_88048328_A->C 4 88048328 88048328 A C snp 1622.77 1/1 99 48 0 48 1.0 intronic rs112453934 AFF1 AU NM_005935 exon14 c.119710+59A>C 0.000599042 0.001 Uncertain 4_88052219_T->C 4 88052219 88052219 T C snp 3730.77 1/1 99 125 0 125 1.0 intronic rs342467 AFF1 AU NM_005935 exon16 c.123675-15T>C 0.567292 0.6002 0.592726 0.5937 0.5818 Uncertain 4_88053085_C->T 4 88053085 88053085 C T snp 489.77 1/1 36 19 0 19 1.0 intronic rs342466 AFF1 AU NM_005935 exon17 c.124457+69C>T 0.621605 0.6002 Uncertain 4_88056720_T->- 4 88056720 88056720 T - indel 1971.73 1/1 99 63 1 62 0.98 intronic rs398083273 AFF1 AU NM_005935 exon20 c.128172-11delT 0.570288 0.6002 0.6550 0.6465 Uncertain 4_88056925_A->G 4 88056925 88056925 A G snp 2876.77 1/1 99 105 0 105 1.0 UTR3 rs342464 AFF1 AU 1 1 Uncertain 4_88116518_A->G 4 88116518 88116518 A G snp 186.77 0/1 99 22 12 10 0.45 exonic rs74604071 KLHL8 AU synonymous SNV NM_001292003 exon2 c.T174C p.L58L 0.105232 0.2163 0.036675 0.0679 0.2046 Uncertain 4_88258483_T->C 4 88258483 88258483 T C snp 974.77 1/1 69 42 0 42 1.0 exonic rs9991501 HSD17B11 AU nonsynonymous SNV NM_016245 exon7 c.A848G p.Q283R 0.988419 1 0.975238 0.9772 0.9998 0.69 T 0.0 P -0.972 T 0.0 T 0.0 T Pathogenic 4_88362904_C->T 4 88362904 88362904 C T snp 448.77 0/1 99 64 42 22 0.34 intronic rs13104303 NUDT9 AU NM_024047 exon4 c.18923-76C>T 0.356629 0.4653 Uncertain 4_88401616_A->G 4 88401616 88401616 A G snp 1683.77 0/1 99 167 88 79 0.47 exonic rs9933 SPARCL1 AU synonymous SNV NM_001291977 exon7 c.T1350C p.D450D 0.747804 0.631 0.691066 0.6714 0.6499 Uncertain 4_88401736_TA->- 4 88401736 88401737 TA - indel 1567.73 0/1 99 81 43 38 0.47 intronic rs34452129 SPARCL1 AU NM_004684 exon3 c.6746+64_6746+65delTA 0.56849 0.4365 Uncertain 4_88403823_T->G 4 88403823 88403823 T G snp 46.77 0/1 33 3 1 2 0.67 intronic rs6857504 SPARCL1 AU NM_004684 exon4 c.8786+111T>G 0.575479 0.4365 Uncertain 4_88415636_G->C 4 88415636 88415636 G C snp 3429.77 0/1 99 250 117 133 0.53 exonic rs1049544 SPARCL1 AU nonsynonymous SNV NM_004684 exon4 c.C316G p.H106D 0.575679 0.4375 0.519299 0.4568 0.4353 1 T 0.0 P -0.962 T 0.0 T 0.0 T Pathogenic 4_88416188_G->T 4 88416188 88416188 G T snp 677.77 0/1 99 109 72 37 0.34 exonic rs13051 SPARCL1 AU nonsynonymous SNV NM_004684 exon3 c.C146A p.A49D 0.57528 0.4375 0.519145 0.4566 0.4346 0.73 T 0.000 P -0.993 T 0.0 T 0.0 T Pathogenic 4_88416223_A->G 4 88416223 88416223 A G snp 583.77 0/1 99 104 74 30 0.29 exonic rs8342 SPARCL1 AU synonymous SNV NM_004684 exon3 c.T111C p.P37P 0.751398 0.631 0.694987 0.6725 0.6504 Uncertain 4_88533164_TGTGTGTG->- 4 88533164 88533171 TGTGTGTG - indel 1047.73 ./1 99 13 0 13 1.0 intronic rs36228864 DSPP AD NM_014208 exon3 c.1196-92_1196-85delTGTGTGTG 0.353235 0.3214 Uncertain 4_88533164_TGTGTG->- 4 88533164 88533169 TGTGTG - indel 1047.73 ./1 99 13 0 13 1.0 intronic rs202009023 DSPP AD NM_014208 exon3 c.1196-92_1196-87delTGTGTG 0.133387 0.3899 Uncertain 4_88533441_T->C 4 88533441 88533441 T C snp 3719.77 1/1 99 128 0 128 1.0 intronic rs13131929 DSPP AD NM_014208 exon4 c.1413-32T>C 0.471446 0.7054 0.431429 0.5162 0.6812 Uncertain 4_88533445_T->C 4 88533445 88533445 T C snp 1640.77 0/1 99 131 64 67 0.51 intronic rs13131936 DSPP AD NM_014208 exon4 c.1413-28T>C 0.21865 0.2391 0.228778 0.2585 0.1947 Uncertain 4_88534065_G->A 4 88534065 88534065 G A snp 1524.77 0/1 99 122 59 63 0.52 exonic rs3750025 DSPP AD nonsynonymous SNV NM_014208 exon4 c.G727A p.D243N 0.105032 0.3651 0.021398 0.0557 0.3810 0.04 T 0.069 P -1.424 T 0.994 D 0.795 D ID=CM129769;DIS=Dental disorder, non-syndromic;TAG=DM?;PUB=23018043 DM? Pathogenic 4_88534235_A->G 4 88534235 88534235 A G snp 3124.77 1/1 99 103 0 103 1.0 exonic rs2736982 DSPP AD synonymous SNV NM_014208 exon4 c.A897G p.S299S 0.674321 0.7133 0.647735 0.6282 0.6909 Uncertain 4_88537420_C->T 4 88537420 88537420 C T snp 44.74 1/1 6 3 0 3 1.0 exonic rs111205185 DSPP AD synonymous SNV NM_014208 exon5 c.C3606T p.S1202S 0.658946 0.7133 0.639476 0.5888 0.6768 Uncertain 4_88537737_G->A 4 88537737 88537737 G A snp 2997.77 1/1 99 100 0 100 1.0 UTR3 rs2615489 DSPP AD 0.855431 0.8909 0.884764 0.7943 0.8923 Uncertain 4_88577573_A->G 4 88577573 88577573 A G snp 3296.77 1/1 99 117 0 117 1.0 intronic rs2615480 DMP1 AR 0.828874 0.9028 0.777924 Uncertain 4_88578310_A->G 4 88578310 88578310 A G snp 99.28 1/1 9 5 0 5 1.0 intronic rs2615479 DMP1 AR NM_001079911 exon3 c.587+79A>G 0.828874 0.9028 Uncertain 4_88584148_C->T 4 88584148 88584148 C T snp 4085.77 1/1 99 153 0 153 1.0 exonic rs2615498 DMP1 AR synonymous SNV NM_004407 exon6 c.C1218T p.S406S 0.175719 0.2401 0.151315 0.1915 0.2332 Uncertain 4_88584160_G->A 4 88584160 88584160 G A snp 4038.77 1/1 99 151 0 151 1.0 exonic rs2615497 DMP1 AR synonymous SNV NM_004407 exon6 c.G1230A p.E410E 0.321286 0.2589 0.283100 0.2594 0.2510 Uncertain 4_88584507_G->A 4 88584507 88584507 G A snp 1870.77 1/1 99 67 0 67 1.0 UTR3 rs2627724 DMP1 AR 0.321286 0.2589 0.272797 0.2596 0.2508 Uncertain 4_88732453_C->T 4 88732453 88732453 C T snp 137.77 0/1 66 8 3 5 0.63 intronic rs4693183 IBSP AU NM_004967 exon7 c.9000-60C>T 0.742212 0.5942 Uncertain 4_88732531_T->C 4 88732531 88732531 T C snp 670.77 0/1 99 47 24 23 0.49 exonic rs4693878 IBSP AU synonymous SNV NM_004967 exon7 c.T423C p.N141N 0.742212 0.5942 0.808704 0.7438 0.5889 Uncertain 4_88732692_G->A 4 88732692 88732692 G A snp 1061.77 0/1 99 91 46 45 0.49 exonic rs1054627 IBSP AU nonsynonymous SNV NM_004967 exon7 c.G584A p.G195E 0.190495 0.1062 0.233969 0.2932 0.1213 0.67 T 0.0 P -0.975 T 0.232 T 0.206 T ID=CM093421;DIS=Hip bone mineral density, association with;TAG=DP;PUB=19079262 DP Pathogenic 4_88732746_A->G 4 88732746 88732746 A G snp 1503.77 0/1 99 109 50 59 0.54 exonic rs13144371 IBSP AU nonsynonymous SNV NM_004967 exon7 c.A638G p.D213G 0.742013 0.5942 0.808627 0.7410 0.5868 0.72 T 0.0 P -1.031 T 0.0 T 0.0 T Pathogenic 4_88732918_A->T 4 88732918 88732918 A T snp 2409.77 0/1 99 215 117 98 0.46 exonic rs1054629 IBSP AU nonsynonymous SNV NM_004967 exon7 c.A810T p.E270D 0.187899 0.1062 0.232585 0.2947 0.1214 0.74 T 0.002 P -0.949 T 0.189 T 0.207 T Pathogenic 4_88755828_T->C 4 88755828 88755828 T C snp 2431.77 0/1 99 211 99 112 0.53 intronic rs7698623 MEPE AU 0.955405 0.9415 0.8070 Uncertain 4_88755967_C->T 4 88755967 88755967 C T snp 1199.77 0/1 99 98 52 46 0.47 intronic rs11097173 MEPE AU NM_020203 exon2 c.54+47C>T 0.123602 0.0188 0.193633 0.1643 0.0157 Uncertain 4_88759690_T->C 4 88759690 88759690 T C snp 248.77 0/1 99 24 15 9 0.38 intronic rs6835632 MEPE AU NM_020203 exon3 c.3917-93T>C Uncertain 4_88767008_G->A 4 88767008 88767008 G A snp 2594.77 0/1 99 187 86 101 0.54 exonic rs17013285 MEPE AU nonsynonymous SNV NM_001184694 exon4 c.G988A p.V330I 0.172324 0.2827 0.134861 0.1811 0.2639 0.26 T 0.0 P -0.982 T 0.014 T 0.005 T Pathogenic 4_88812956_-->CATTGCTC 4 88812956 88812956 - CATTGCTC indel 1860.73 0/1 99 38 19 19 0.5 intergenic rs398072223 MEPE AU 0.187101 0.3105 0.1369 0.2560 Uncertain 4_88813100_G->A 4 88813100 88813100 G A snp 2523.77 0/1 99 233 122 111 0.48 intergenic rs3811816 MEPE AU 0.196685 0.3115 0.1692 0.3041 Uncertain 4_88813126_C->A 4 88813126 88813126 C A snp 3063.77 0/1 99 250 127 123 0.49 intergenic rs3811817 MEPE AU 0.186102 0.3105 0.1658 0.3032 Uncertain 4_88813503_T->C 4 88813503 88813503 T C snp 2624.77 0/1 99 191 82 109 0.57 intergenic rs6532031 MEPE AU 0.902157 0.8046 0.9265 0.7940 Uncertain 4_88813583_G->A 4 88813583 88813583 G A snp 1772.77 0/1 99 154 86 68 0.44 intergenic rs3828551 MEPE AU 0.196486 0.3105 0.1697 0.3045 Uncertain 4_88813659_C->G 4 88813659 88813659 C G snp 1420.77 0/1 99 147 82 65 0.44 intergenic rs3828552 MEPE AU 0.196486 0.3105 0.1697 0.3046 Uncertain 4_88813872_T->A 4 88813872 88813872 T A snp 3115.77 0/1 99 250 122 128 0.51 intergenic rs3828553 MEPE AU 0.196486 0.3105 0.1693 0.3042 Uncertain 4_88814048_A->C 4 88814048 88814048 A C snp 3045.77 0/1 99 250 131 119 0.48 intergenic rs3811818 MEPE AU 0.186102 0.3105 0.1660 0.3038 Uncertain 4_88814125_C->G 4 88814125 88814125 C G snp 2158.77 0/1 99 193 99 94 0.49 intergenic rs3811819 MEPE AU 0.196486 0.3105 0.1698 0.3046 Uncertain 4_88814207_G->A 4 88814207 88814207 G A snp 1109.77 0/1 99 72 33 39 0.54 intergenic rs62315861 MEPE AU 0.196486 0.3105 0.1695 0.3046 Uncertain 4_88814362_G->A 4 88814362 88814362 G A snp 299.77 0/1 99 32 20 12 0.38 intergenic rs3811821 MEPE AU 0.196486 0.3105 0.1693 0.3040 Uncertain 4_88814665_A->C 4 88814665 88814665 A C snp 963.77 0/1 99 128 84 44 0.34 intergenic rs17008718 MEPE AU 0.196486 0.3105 0.1704 0.3088 Uncertain 4_88814683_G->T 4 88814683 88814683 G T snp 1487.77 0/1 99 153 84 69 0.45 intergenic rs55724168 MEPE AU 0.16234 0.3105 0.1598 0.3048 Uncertain 4_88814989_C->T 4 88814989 88814989 C T snp 3409.77 0/1 99 250 120 130 0.52 intergenic rs2904176 MEPE AU 0.196486 0.3105 0.1692 0.3039 Uncertain 4_88815148_G->A 4 88815148 88815148 G A snp 2551.77 0/1 99 250 144 106 0.42 intergenic rs56105763 MEPE AU 0.196685 0.3105 0.1658 0.2945 Uncertain 4_88815163_-->TTAGG 4 88815163 88815163 - TTAGG indel 6928.73 0/1 99 241 135 106 0.44 intergenic rs3061166 MEPE AU 0.252196 0.2569 0.0317 0.0489 Uncertain 4_88897880_A->G 4 88897880 88897880 A G snp 218.84 1/1 18 6 0 6 1.0 intronic rs2853750 SPP1 AU 0.127596 0.3651 Uncertain 4_88902692_T->C 4 88902692 88902692 T C snp 6854.77 1/1 99 246 0 246 1.0 exonic rs4754 SPP1 AU synonymous SNV NM_001040058 exon6 c.T282C p.D94D 0.361022 0.7054 0.240120 0.3182 0.7103 ID=CM033816;DIS=Multiple sclerosis, susceptibility, association with;TAG=DP;PUB=12620651 DP Uncertain 4_88903853_C->T 4 88903853 88903853 C T snp 7531.77 1/1 99 250 0 250 1.0 exonic rs1126616 SPP1 AU synonymous SNV NM_001040058 exon7 c.C750T p.A250A 0.361422 0.7063 0.240197 0.3182 0.7117 Uncertain 4_88929453_G->A 4 88929453 88929453 G A snp 185.9 1/1 15 6 0 6 1.0 exonic rs117078377 PKD2 AU nonsynonymous SNV NM_000297 exon1 c.G568A p.A190T 0.102835 0.376 0.0632 0.4462 0.42 T 1.0 P -0.986 T 0.907 T 0.444 P CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000078583.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 ID=CM044027;DIS=Polycystic kidney disease 2;TAG=R;PUB=15192819 R Pathogenic 4_88959381_G->A 4 88959381 88959381 G A snp 2603.77 1/1 99 92 0 92 1.0 intronic rs2725221 PKD2 AU NM_000297 exon4 c.30517-21G>A 0.696286 0.6558 0.659388 0.6039 0.6714 Uncertain 4_88959745_A->G 4 88959745 88959745 A G snp 247.8 1/1 21 7 0 7 1.0 intronic rs17013735 PKD2 AU NM_000297 exon4 c.30768+92A>G 0.196286 0.4216 Uncertain 4_89015619_G->A 4 89015619 89015619 G A snp 4934.77 1/1 99 186 0 186 1.0 intronic rs2231165 ABCG2 AU,AO NM_004827 exon2 c.2343-109G>A 0.0898562 0.2044 Uncertain 4_89036353_C->T 4 89036353 89036353 C T snp 1684.77 1/1 99 52 0 52 1.0 intronic rs2725261 ABCG2 AU,AO NM_004827 exon9 c.22825+143C>T 0.353834 0.5754 Uncertain 4_89036400_C->G 4 89036400 89036400 C G snp 254.8 1/1 21 9 1 8 0.89 intronic rs79295167 ABCG2 AU,AO NM_004827 exon9 c.22825+190C>G Uncertain 4_89052323_G->T 4 89052323 89052323 G T snp 2320.77 0/1 99 243 139 104 0.43 exonic rs2231142 ABCG2 AU,AO nonsynonymous SNV NM_004827 exon5 c.C421A p.Q141K 0.119409 0.2907 0.084499 0.1180 0.3007 0.33 T 0.971 P -0.942 T 0.442 T 0.219 T CLINSIG=other|other;CLNDBN=Uric_acid_concentration\x2c_serum\x2c_quantitative_trait_locus_1|Blood_group\x2c_junior_system;CLNREVSTAT=no_assertion_criteria_provided|no_assertion_criteria_provided;CLNACC=RCV000023341.1|RCV000023342.2;CLNDSDB=MedGen:OMIM:OMIM|MedGen:OMIM;CLNDSDBID=C1841837:138900:612670|C3280986:614490 ID=CM057428;DIS=Gout, association with;TAG=DFP;PUB=18834626 DFP Pathogenic 4_89317868_T->C 4 89317868 89317868 T C snp 78.77 0/1 63 5 2 3 0.6 intronic rs72879352 HERC6 AU NM_001165136 exon7 c.17929-134T>C 0.11881 0.2321 Uncertain 4_89319296_T->C 4 89319296 89319296 T C snp 817.77 0/1 99 70 36 34 0.49 exonic rs17014118 HERC6 AU nonsynonymous SNV NM_001165136 exon8 c.T1027C p.F343L 0.555112 0.6944 0.322315 0.4465 0.7406 0.93 T 0.000 P -1.044 T 0.0 T 0.0 T Pathogenic 4_89378760_-->G 4 89378760 89378760 - G indel 561.73 0/1 99 29 7 22 0.76 intronic rs150387057 HERC5 AU NM_016323 exon1 c.265+75insG 0.115016 0.2143 Uncertain 4_89389640_C->A 4 89389640 89389640 C A snp 1007.77 1/1 72 36 0 36 1.0 intronic rs4585264 HERC5 AU NM_016323 exon8 c.11153+67C>A 0.617212 0.7976 Uncertain 4_89397091_A->G 4 89397091 89397091 A G snp 7081.77 1/1 99 243 0 243 1.0 exonic rs7699006 HERC5 AU nonsynonymous SNV NM_016323 exon12 c.A1492G p.M498V 0.613019 0.8026 0.454790 0.4403 0.7971 1 T 0.0 P -0.970 T 0.0 T 0.0 T Pathogenic 4_89415396_T->C 4 89415396 89415396 T C snp 6457.77 1/1 99 250 1 249 1.0 exonic rs6857425 HERC5 AU synonymous SNV NM_016323 exon18 c.T2358C p.L786L 0.999201 1 0.998616 0.9988 1 Uncertain 4_89599421_A->C 4 89599421 89599421 A C snp 374.77 1/1 30 10 0 10 1.0 intronic rs2604227 HERC3 AU NM_001271602 exon18 c.28167+136A>C 0.996006 1 Uncertain 4_89649659_A->G 4 89649659 89649659 A G snp 722.77 0/1 99 54 27 27 0.5 ncRNA_exonic rs9224 FAM13A-AS1 AU 0.634984 0.8274 0.462633 0.4599 0.8410 Uncertain 4_89689354_A->G 4 89689354 89689354 A G snp 303.78 1/1 24 8 0 8 1.0 intronic rs3756049 FAM13A AU NM_001265580 exon13 c.39527+144A>G 0.523762 0.3968 Uncertain 4_89702564_C->G 4 89702564 89702564 C G snp 797.77 1/1 60 22 0 22 1.0 intronic rs2290784 FAM13A AU NM_001265580 exon14 c.52819+62C>G 0.279952 0.2758 Uncertain 4_89711849_T->C 4 89711849 89711849 T C snp 2972.77 1/1 99 115 0 115 1.0 intronic rs2290782 FAM13A AU NM_001265579 exon15 c.62095+71T>C 0.614417 0.7004 0.518397 Uncertain 4_89711854_C->T 4 89711854 89711854 C T snp 2852.77 1/1 99 111 1 110 0.99 intronic rs2290781 FAM13A AU NM_001265579 exon15 c.62095+76C>T 0.27516 0.381 0.269382 Uncertain 4_89726073_T->A 4 89726073 89726073 T A snp 3482.77 1/1 99 139 0 139 1.0 intronic rs3822075 FAM13A AU NM_001265579 exon16 c.76478-88T>A 0.544129 0.6984 Uncertain 4_89726283_A->C 4 89726283 89726283 A C snp 135.03 1/1 12 4 0 4 1.0 intronic rs2276936 FAM13A AU NM_001265579 exon16 c.76520+80A>C 0.589657 0.7004 0.487885 Uncertain 4_89941921_C->A 4 89941921 89941921 C A snp 56.74 1/1 6 2 0 2 1.0 intronic rs1708673 FAM13A AU NM_014883 exon22 c.292137+101C>A 0.103834 0.0526 Uncertain 4_90034030_G->A 4 90034030 90034030 G A snp 262.77 0/1 99 22 11 11 0.5 UTR5 rs17015025 TIGD2 AU 0.154952 0.1647 Uncertain 4_90035549_A->G 4 90035549 90035549 A G snp 2033.77 0/1 99 175 93 82 0.47 exonic rs2280099 TIGD2 AU nonsynonymous SNV NM_145715 exon1 c.A1424G p.H475R 0.122005 0.1647 0.131708 0.1502 0.1366 0.69 T 0.102 P -1.063 T 0.96 D 0.677 D Pathogenic 4_90168825_T->C 4 90168825 90168825 T C snp 950.77 1/1 69 30 0 30 1.0 UTR3 rs7672015 GPRIN3 AU 0.448283 0.3442 Uncertain 4_90169925_A->G 4 90169925 90169925 A G snp 4960.77 1/1 99 171 0 171 1.0 exonic rs7653897 GPRIN3 AU nonsynonymous SNV NM_198281 exon2 c.T1337C p.V446A 0.623003 0.5526 0.603337 0.5613 0.6000 1 T 0.0 P -0.990 T 0.0 T 0.0 T Pathogenic 4_90743317_-->C 4 90743317 90743317 - C indel 718.73 0/1 99 46 24 22 0.48 intronic rs3216147 SNCA AD NM_001146054 exon3 c.95618-79insC 0.257788 0.2946 0.3378 0.3257 Uncertain 4_90743331_C->T 4 90743331 90743331 C T snp 704.77 0/1 99 58 29 29 0.5 intronic rs10005233 SNCA AD NM_001146054 exon3 c.95618-65C>T 0.668131 0.8343 0.5791 0.8561 Uncertain 4_90756550_C->G 4 90756550 90756550 C G snp 1009.77 0/1 99 52 20 32 0.62 intronic rs7681440 SNCA AD NM_001146054 exon5 c.108919-147C>G Uncertain 4_90816023_A->G 4 90816023 90816023 A G snp 76.77 0/1 99 9 5 4 0.44 upstream rs1442140 MMRN1 AU 0.647364 0.7659 Uncertain 4_90816790_T->A 4 90816790 90816790 T A snp 438.77 0/1 99 37 18 19 0.51 intronic rs2289515 MMRN1 AU NM_007351 exon1 c.623+45T>A 0.39377 0.4494 0.367172 0.4690 0.4918 Uncertain 4_91234250_A->G 4 91234250 91234250 A G snp 438.77 0/1 99 22 8 14 0.64 intronic rs1466391 CCSER1 AU NM_001145065 exon3 c.4763+52A>G 0.765974 0.8452 0.656840 0.6728 0.8545 Uncertain 4_91246656_C->T 4 91246656 91246656 C T snp 421.77 0/1 99 36 18 18 0.5 intronic rs1870795 CCSER1 AU NM_001145065 exon3 c.4763+12458C>T 0.765375 0.8254 Uncertain 4_91246905_C->G 4 91246905 91246905 C G snp 609.77 1/1 45 20 0 20 1.0 intronic rs9284586 CCSER1 AU NM_001145065 exon3 c.4763+12707C>G 0.990016 1 Uncertain 4_91246916_G->A 4 91246916 91246916 G A snp 469.77 1/1 36 16 0 16 1.0 intronic rs9284587 CCSER1 AU NM_001145065 exon3 c.4763+12718G>A 0.990016 1 Uncertain 4_91549157_T->- 4 91549157 91549157 T - indel 446.73 0/1 99 65 39 26 0.4 intronic rs11303496 CCSER1 AU NM_001145065 exon6 c.319740-18delT 0.535743 0.5595 0.5280 0.6130 Uncertain 4_91563214_C->T 4 91563214 91563214 C T snp 1438.77 0/1 99 135 71 64 0.47 intronic rs12642596 CCSER1 AU NM_001145065 exon6 c.319948+13831C>T 0.193291 0.3194 Uncertain 4_91648364_C->G 4 91648364 91648364 C G snp 550.77 0/1 99 66 37 29 0.44 intronic rs72661885 CCSER1 AU NM_001145065 exon7 c.415707+3222C>G 0.00998403 0.0118 0 Uncertain 4_91832609_G->C 4 91832609 91832609 G C snp 3953.77 1/1 99 135 0 135 1.0 intronic rs6855137 CCSER1 AU NM_001145065 exon9 c.615085-11911G>C 0.510583 0.3978 Uncertain 4_91859947_G->A 4 91859947 91859947 G A snp 481.77 0/1 99 36 17 19 0.53 intronic rs13149058 CCSER1 AU NM_001145065 exon9 c.615163+15349G>A 0.0882588 0.2143 Uncertain 4_94316763_T->G 4 94316763 94316763 T G snp 1633.77 0/1 99 162 86 76 0.47 exonic rs1385405 GRID2 AR synonymous SNV NM_001510 exon9 c.T1251G p.G417G 0.75599 0.7331 0.728853 0.6722 0.7458 Uncertain 4_94750058_C->G 4 94750058 94750058 C G snp 217.77 0/1 99 19 11 8 0.42 upstream rs10009502 ATOH1 AU 0.267772 0.2123 0.323593 0.3764 0.2458 Uncertain 4_95134165_C->G 4 95134165 95134165 C G snp 1446.77 1/1 99 59 0 59 1.0 intronic rs10433970 SMARCAD1 AD NM_001128430 exon2 c.190+4430C>G 0.417532 0.7024 0.4347 0.7652 Uncertain 4_95161996_C->T 4 95161996 95161996 C T snp 100.77 0/1 99 24 17 7 0.29 intronic rs2306803 SMARCAD1 AD NM_001128430 exon6 c.32511-60C>T 0.335264 0.499 Uncertain 4_95169682_G->T 4 95169682 95169682 G T snp 5847.77 1/1 99 205 0 205 1.0 intronic rs10034781 SMARCAD1 AD NM_001128430 exon7 c.41259-1122G>T 0.722843 0.7054 0.6200 0.7727 Uncertain 4_95169772_T->A 4 95169772 95169772 T A snp 3125.77 1/1 99 101 0 101 1.0 intronic rs7435106 SMARCAD1 AD NM_001128430 exon7 c.41259-1032T>A 0.461262 0.7024 Uncertain 4_95170839_G->A 4 95170839 95170839 G A snp 714.77 1/1 54 29 0 29 1.0 exonic rs11722476 SMARCAD1 AD nonsynonymous SNV NM_001128429 exon7 c.G740A p.S247N 0.461462 0.7024 0.340360 0.4560 0.7183 0.5 T 0.962 P -1.049 T 0.0 T 0.0 T ID=CM127898;DIS=Capecitabine sensitivity, association with;TAG=DP;PUB=22864933 DP Pathogenic 4_95173779_T->C 4 95173779 95173779 T C snp 700.77 1/1 51 27 0 27 1.0 exonic rs7439869 SMARCAD1 AD nonsynonymous SNV NM_001128429 exon9 c.T902C p.V301A 0.730631 0.7054 0.701938 0.6931 0.7480 0.92 T 0.031 P -1.002 T 0.0 T 0.0 T Pathogenic 4_95186055_A->G 4 95186055 95186055 A G snp 600.77 0/1 99 48 25 23 0.48 exonic rs2306802 SMARCAD1 AD synonymous SNV NM_001254949 exon2 c.A189G p.Q63Q 0.335264 0.499 0.293231 0.3912 0.5158 Uncertain 4_95197520_C->T 4 95197520 95197520 C T snp 4398.77 1/1 99 179 2 177 0.99 exonic rs6823404 SMARCAD1 AD synonymous SNV NM_001254949 exon7 c.C549T p.D183D 0.557109 0.7034 0.511841 0.5892 0.7172 Uncertain 4_95199479_C->G 4 95199479 95199479 C G snp 388.77 1/1 30 11 0 11 1.0 intronic rs35670996 SMARCAD1 AD NM_001128430 exon17 c.70027-93C>G 0.479034 0.7024 Uncertain 4_95202492_G->A 4 95202492 95202492 G A snp 493.77 1/1 39 14 0 14 1.0 intronic rs35361491 SMARCAD1 AD NM_001128430 exon21 c.73077-130G>A 0.46885 0.7024 Uncertain 4_95206253_TATC->- 4 95206253 95206256 TATC - indel 3609.73 1/1 99 56 0 56 1.0 intronic rs111828975 SMARCAD1 AD NM_001128430 exon23 c.76675+33_76675+36delTATC 0.573482 0.7054 0.5954 0.7197 Uncertain 4_95496882_C->T 4 95496882 95496882 C T snp 2993.77 0/1 99 249 124 125 0.5 exonic rs2452600 PDLIM5 AU nonsynonymous SNV NM_006457 exon5 c.C407T p.S136F 0.224641 0.378 0.250807 0.2620 0.3871 0.05 T 0.910 P -0.928 T 0.93 T 0.38 D Pathogenic 4_95498618_AT->- 4 95498618 95498619 AT - indel 268.73 0/1 99 23 5 18 0.78 intronic rs10591059 PDLIM5 AU NM_006457 exon5 c.120746+1433_120746+1434delAT 0.559105 0.5446 0.4824 0.4931 Uncertain 4_95503670_G->T 4 95503670 95503670 G T snp 172.9 1/1 15 5 0 5 1.0 intronic rs3857212 PDLIM5 AU NM_001011516 exon6 c.127428-197G>T 0.979832 1 Uncertain 4_95503902_T->C 4 95503902 95503902 T C snp 1887.77 0/1 99 153 73 80 0.52 intronic rs5013417 PDLIM5 AU NM_001011516 exon6 c.127443+20T>C 0.39976 0.4623 0.331225 0.4761 0.4957 Uncertain 4_95505975_C->T 4 95505975 95505975 C T snp 77.77 0/1 99 7 4 3 0.43 intronic rs12639887 PDLIM5 AU NM_001256426 exon6 c.129697-161C>T 0.400359 0.4623 Uncertain 4_95506214_G->A 4 95506214 95506214 G A snp 326.77 0/1 54 16 3 13 0.81 intronic rs2172448 PDLIM5 AU NM_001256426 exon6 c.129715+60G>A 0.472843 0.4921 Uncertain 4_95508109_T->- 4 95508109 95508109 T - indel 83.73 0/1 62 24 8 16 0.67 intronic rs70946535 PDLIM5 AU NM_001011516 exon10 c.131700-30delT 0.470447 0.4702 0.0668 0.0597 Uncertain 4_95529430_C->T 4 95529430 95529430 C T snp 297.78 1/1 24 9 0 9 1.0 intronic rs10033359 PDLIM5 AU NM_001256426 exon9 c.152890+101C>T 0.976238 1 Uncertain 4_95529444_C->A 4 95529444 95529444 C A snp 182.9 1/1 15 5 0 5 1.0 intronic rs9307146 PDLIM5 AU NM_001256426 exon9 c.152890+115C>A 0.891973 0.9554 Uncertain 4_95531417_A->G 4 95531417 95531417 A G snp 3297.77 1/1 99 127 0 127 1.0 intronic rs10017461 PDLIM5 AU NM_001256426 exon10 c.155016-38A>G 0.819888 0.9554 0.8953 0.9697 Uncertain 4_95531562_T->C 4 95531562 95531562 T C snp 295.78 1/1 24 10 0 10 1.0 intronic rs10007050 PDLIM5 AU NM_001256426 exon10 c.155016+107T>C 0.920128 1 Uncertain 4_95539267_G->A 4 95539267 95539267 G A snp 3947.77 1/1 99 142 0 142 1.0 exonic rs966845 PDLIM5 AU nonsynonymous SNV NM_006457 exon8 c.G1033A p.A345T 0.993411 1 0.994541 0.9935 1 1 T 0.0 P -0.956 T 0.013 T 0.003 T Pathogenic 4_95561459_A->G 4 95561459 95561459 A G snp 987.77 0/1 99 102 58 44 0.43 exonic rs7690296 PDLIM5 AU nonsynonymous SNV NM_006457 exon9 c.A1141G p.T381A 0.38758 0.3998 0.342227 0.4357 0.3918 1 T 0.0 P -1.089 T 0.002 T 0.003 T ID=CM1311834;DIS=Bipolar disorder and schizophrenia, association with;TAG=DP;PUB=24064681 DP Pathogenic 4_95561652_T->- 4 95561652 95561652 T - indel 37.73 0/1 75 34 14 20 0.59 intronic rs10716970 PDLIM5 AU NM_006457 exon9 c.185162+51delT 0.436502 0.4008 0.4377 0.3813 Uncertain 4_95575601_C->T 4 95575601 95575601 C T snp 1577.77 0/1 99 128 63 65 0.51 intronic rs2280003 PDLIM5 AU NM_006457 exon10 c.199171-9C>T 0.265575 0.3323 0.305782 0.3035 0.3437 Uncertain 4_95578588_G->A 4 95578588 95578588 G A snp 6918.77 1/1 99 250 0 250 1.0 exonic rs13107595 PDLIM5 AU nonsynonymous SNV NM_006457 exon11 c.G1475A p.S492N 0.979633 1 0.983777 0.9886 1 1 T 0.000 P -0.917 T 0.001 T 0.004 T Pathogenic 4_95583827_C->T 4 95583827 95583827 C T snp 31.77 0/1 60 6 4 2 0.33 intronic rs10031423 PDLIM5 AU NM_006457 exon12 c.207249+139C>T 0.461462 0.4365 Uncertain 4_95585038_G->A 4 95585038 95585038 G A snp 475.77 0/1 99 45 24 21 0.47 intronic rs56921499 PDLIM5 AU NM_006457 exon13 c.208689-90G>A 0.539936 0.5913 Uncertain 4_96035796_-->AC 4 96035796 96035796 - AC indel 293.73 0/1 99 14 5 9 0.64 intronic rs10622489 BMPR1B AR,AD NM_001256794 exon3 c.10295-74insAC 0.363219 0.3581 Uncertain 4_96106322_A->G 4 96106322 96106322 A G snp 1805.77 1/1 99 64 0 64 1.0 exonic rs2289043 UNC5C AU nonsynonymous SNV NM_003728 exon13 c.T2162C p.M721T 0.494609 0.5694 0.527218 0.6409 0.5731 0.01 T 1.0 P -0.952 T 0.189 T 0.039 T Pathogenic 4_96123981_C->T 4 96123981 96123981 C T snp 1325.77 0/1 99 104 53 51 0.49 exonic rs3733212 UNC5C AU synonymous SNV NM_003728 exon12 c.G2037A p.A679A 0.584265 0.3601 0.700292 0.6213 0.3373 Uncertain 4_96127869_T->G 4 96127869 96127869 T G snp 804.77 0/1 99 67 32 35 0.52 exonic rs2276322 UNC5C AU synonymous SNV NM_003728 exon11 c.A1812C p.P604P 0.528554 0.3601 0.629094 0.5883 0.3360 Uncertain 4_96137512_T->C 4 96137512 96137512 T C snp 786.77 0/1 99 49 19 30 0.61 intronic rs995062 UNC5C AU NM_003728 exon7 c.46978+150T>C 0.454872 0.3383 Uncertain 4_96169733_G->T 4 96169733 96169733 G T snp 2633.77 0/1 99 240 127 113 0.47 intronic rs13118653 UNC5C AU NM_003728 exon12 c.81253-1904G>T 0.480431 0.5635 0.4845 0.5985 Uncertain 4_96256616_A->G 4 96256616 96256616 A G snp 3167.77 1/1 99 119 0 119 1.0 exonic rs4699423 UNC5C AU synonymous SNV NM_003728 exon2 c.T291C p.S97S 0.478634 0.8343 0.364657 0.4832 0.8491 Uncertain 4_96256673_G->A 4 96256673 96256673 G A snp 2937.77 1/1 99 114 2 112 0.98 exonic rs1843018 UNC5C AU synonymous SNV NM_003728 exon2 c.C234T p.P78P 0.810104 1 0.760305 0.8229 0.9987 Uncertain 4_96469708_A->T 4 96469708 96469708 A T snp 43.77 0/1 72 4 2 2 0.5 intronic rs4699431 UNC5C AU NM_003728 exon16 c.379500-176A>T 0.297524 0.1052 Uncertain 4_96762629_A->G 4 96762629 96762629 A G snp 44.78 0/1 27 3 1 2 0.67 downstream rs1030835 PDHA2 AU 0.509585 0.8056 Uncertain 4_98761900_C->T 4 98761900 98761900 C T snp 2597.77 1/1 99 93 0 93 1.0 intronic rs11735193 STPG2 AU NM_174952 exon3 c.281715-23C>T 0.389177 0.373 0.407231 0.3746 0.3793 Uncertain 4_98864859_C->T 4 98864859 98864859 C T snp 182.9 1/1 15 6 0 6 1.0 intronic rs28417716 STPG2 AU NM_174952 exon4 c.384839-188C>T 0.383586 0.373 Uncertain 4_98893334_G->T 4 98893334 98893334 G T snp 557.77 1/1 42 16 0 16 1.0 intronic rs13147195 STPG2 AU NM_174952 exon5 c.413222-96G>T 0.388578 0.373 Uncertain 4_98902278_A->G 4 98902278 98902278 A G snp 715.77 1/1 54 20 0 20 1.0 intronic rs35146453 STPG2 AU NM_174952 exon6 c.422101-31A>G 0.396765 0.374 0.418115 0.3777 0.3804 Uncertain 4_99026935_G->C 4 99026935 99026935 G C snp 459.77 1/1 36 12 0 12 1.0 intronic rs13144771 STPG2 AU NM_174952 exon7 c.546895-168G>C 0.3752 0.2748 Uncertain 4_99027137_T->C 4 99027137 99027137 T C snp 1971.77 1/1 99 79 0 79 1.0 exonic rs2865979 STPG2 AU synonymous SNV NM_174952 exon5 c.A579G p.L193L 0.375399 0.2758 0.412806 0.3936 0.3038 Uncertain 4_99027184_T->C 4 99027184 99027184 T C snp 1168.77 1/1 84 43 0 43 1.0 exonic rs2903150 STPG2 AU nonsynonymous SNV NM_174952 exon5 c.A532G p.I178V 0.3752 0.2748 0.413164 0.4001 0.3103 0.4 T 0.000 P -0.921 T 0.074 T 0.133 T Pathogenic 4_99027218_T->C 4 99027218 99027218 T C snp 774.77 1/1 57 25 0 25 1.0 splicing rs2903151 STPG2 AU NM_174952 exon7 c.547007+3T>C 0.3752 0.2748 0.402277 0.4103 0.3232 Pathogenic 4_99030211_C->T 4 99030211 99030211 C T snp 143.03 1/1 12 5 0 5 1.0 intronic rs10019087 STPG2 AU NM_174952 exon8 c.550135-132C>T 0.3752 0.2748 Uncertain 4_99049593_A->G 4 99049593 99049593 A G snp 1170.77 1/1 84 43 0 43 1.0 exonic rs17558193 STPG2 AU nonsynonymous SNV NM_174952 exon3 c.T373C p.Y125H 0.3752 0.2748 0.413873 0.3725 0.2879 0 D 0.890 P -0.909 T 1.0 D 0.999 D Pathogenic 4_99055406_A->G 4 99055406 99055406 A G snp 225.84 1/1 18 8 0 8 1.0 intronic rs13328042 STPG2 AU NM_174952 exon10 c.575289-91A>G 0.375599 0.2758 Uncertain 4_99055480_T->C 4 99055480 99055480 T C snp 933.77 1/1 66 35 0 35 1.0 intronic rs13328005 STPG2 AU NM_174952 exon10 c.575289-17T>C 0.36861 0.2758 0.409336 0.3649 0.2880 Uncertain 4_99064379_A->G 4 99064379 99064379 A G snp 362.78 1/1 27 15 0 15 1.0 UTR5 rs4699605 STPG2 AU 0.309105 0.2758 Uncertain 4_99218108_-->A 4 99218108 99218108 - A indel 2078.73 1/1 99 48 0 48 1.0 intronic rs34325900 RAP1GDS1 AU NM_001100429 exon2 c.31950+3442insA 0.489417 0.3353 0.4149 0.3731 Uncertain 4_99337881_C->T 4 99337881 99337881 C T snp 983.77 0/1 99 78 37 41 0.53 intronic rs10516430 RAP1GDS1 AU NM_001100429 exon7 c.155179-14C>T 0.231629 0.253 0.240440 0.2612 0.2780 Uncertain 4_99399748_G->T 4 99399748 99399748 G T snp 441.77 0/1 99 31 16 15 0.48 intronic rs4303985 TSPAN5 AU NM_005723 exon4 c.6163-87G>T 0.476038 0.3264 Uncertain 4_99408106_T->C 4 99408106 99408106 T C snp 510.77 0/1 99 33 16 17 0.52 intronic rs6838913 TSPAN5 AU NM_005723 exon6 c.14363+71T>C 0.771765 0.5982 Uncertain 4_99428608_G->T 4 99428608 99428608 G T snp 227.77 0/1 94 11 3 8 0.73 intronic rs17027628 TSPAN5 AU NM_005723 exon7 c.35156-220G>T 0.26278 0.3849 Uncertain 4_99808872_T->C 4 99808872 99808872 T C snp 657.77 0/1 99 44 18 26 0.59 intronic rs994636 EIF4E AU NM_001968 exon4 c.6861-167T>C 0.172524 0.2361 Uncertain 4_99824586_T->C 4 99824586 99824586 T C snp 155.77 0/1 99 12 5 7 0.58 intronic rs75215124 EIF4E AU NM_001968 exon6 c.20955+1453T>C 0.0948482 0.4216 0.0256 0.4697 Uncertain 4_99850126_A->G 4 99850126 99850126 A G snp 1731.77 1/1 99 64 0 64 1.0 intronic rs11723037 EIF4E AU NM_001130678 exon7 c.47867+81A>G 0.614217 0.6845 0.548857 0.5189 0.6791 Uncertain 4_99916724_C->G 4 99916724 99916724 C G snp 50.74 1/1 6 2 0 2 1.0 upstream rs3133160 METAP1 AU Uncertain 4_99927088_G->A 4 99927088 99927088 G A snp 567.77 1/1 42 20 0 20 1.0 intronic rs1230159 METAP1 AU NM_015143 exon1 c.114+10070G>A 0.310503 0.8115 Uncertain 4_99952607_C->T 4 99952607 99952607 C T snp 4502.77 1/1 99 151 0 151 1.0 intronic rs1037476 METAP1 AU NM_015143 exon2 c.33165+2538C>T 0.860423 0.9931 Uncertain 4_99996373_G->T 4 99996373 99996373 G T snp 90.28 1/1 9 3 0 3 1.0 intronic rs1154416 ADH5 AU NM_000671 exon3 c.2633+173G>T 0.587859 0.8562 Uncertain 4_100001247_T->C 4 100001247 100001247 T C snp 423.77 1/1 33 13 0 13 1.0 intronic rs1154412 ADH5 AU NM_000671 exon6 c.8948-1268T>C 0.921725 0.998 Uncertain 4_100006645_A->G 4 100006645 100006645 A G snp 2760.77 1/1 99 104 0 104 1.0 intronic rs1154410 ADH5 AU NM_000671 exon8 c.12800+278A>G 0.878994 1 Uncertain 4_100009738_G->C 4 100009738 100009738 G C snp 7419.77 1/1 99 250 0 250 1.0 intronic rs1154401 ADH5 AU NM_000671 exon9 c.16272-101G>C 0.788738 0.999 Uncertain 4_100021124_T->C 4 100021124 100021124 T C snp 59.74 1/1 6 3 0 3 1.0 ncRNA_intronic rs2851279 LOC100507053 AU 0.809704 1 Uncertain 4_100045500_T->G 4 100045500 100045500 T G snp 564.77 1/1 42 19 0 19 1.0 ncRNA_intronic rs1042365 LOC100507053 AU 0.882987 1 Uncertain 4_100045574_T->C 4 100045574 100045574 T C snp 967.77 1/1 69 40 0 40 1.0 ncRNA_intronic rs1042364 LOC100507053 AU 0.882788 1 0.771699 0.7887 0.9992 Uncertain 4_100045616_C->T 4 100045616 100045616 C T snp 1146.77 1/1 84 48 0 48 1.0 exonic rs1126673 ADH4 AU nonsynonymous SNV NM_000670 exon9 c.G1120A p.V374I 0.847244 0.999 0.730077 0.7549 0.9987 1 T 0.000 P -0.997 T 0.004 T 0.003 T Pathogenic 4_100045647_A->G 4 100045647 100045647 A G snp 1006.77 1/1 72 40 0 40 1.0 ncRNA_intronic rs2602894 LOC100507053 AU 0.882987 1 0.771831 0.7860 0.9990 Uncertain 4_100048327_G->A 4 100048327 100048327 G A snp 757.77 1/1 57 27 0 27 1.0 ncRNA_intronic rs9307234 LOC100507053 AU 0.964058 0.999 0.958391 0.9657 0.9996 Uncertain 4_100048414_T->C 4 100048414 100048414 T C snp 2977.77 1/1 99 111 0 111 1.0 exonic rs1126671 ADH4 AU nonsynonymous SNV NM_000670 exon7 c.A925G p.I309V 0.847045 0.999 0.730893 0.7560 0.9987 0.04 T 0.0 P -1.006 T 0.0 T 0.0 T ID=CM025885;DIS=Decreased protein stability;TAG=FP;PUB=11964133 FP Pathogenic 4_100048506_G->A 4 100048506 100048506 G A snp 2543.77 1/1 99 95 0 95 1.0 ncRNA_intronic rs6836440 LOC100507053 AU 0.964058 0.999 0.958788 0.9657 0.9995 Uncertain 4_100052733_C->A 4 100052733 100052733 C A snp 1558.77 1/1 99 56 0 56 1.0 exonic rs1126670 ADH4 AU synonymous SNV NM_000670 exon6 c.G765T p.P255P 0.847244 0.999 0.731278 0.7565 0.9987 Uncertain 4_100062819_A->G 4 100062819 100062819 A G snp 3233.06 1/1 99 127 0 127 1.0 exonic rs2032349 ADH4 AU synonymous SNV NM_000670 exon3 c.T135C p.S45S 0.964058 0.999 0.958788 0.9656 0.9997 Uncertain 4_100064247_G->T 4 100064247 100064247 G T snp 1830.77 1/1 99 60 0 60 1.0 ncRNA_intronic rs2032348 LOC100507053 AU 0.251198 0.7351 0.2365 0.7576 Uncertain 4_100064305_C->G 4 100064305 100064305 C G snp 3290.77 1/1 99 126 0 126 1.0 ncRNA_intronic rs4699715 LOC100507053 AU 0.982827 0.999 0.9836 1 Uncertain 4_100065509_T->G 4 100065509 100065509 T G snp 1709.77 1/1 99 59 1 58 0.98 ncRNA_intronic rs1800759 LOC100507053 AU 0.562101 0.8552 ID=CR994658;DIS=Cluster headache, association with;TAG=DFP;PUB=24469609 DFP Uncertain 4_100128753_T->C 4 100128753 100128753 T C snp 3126.77 1/1 99 110 0 110 1.0 ncRNA_intronic rs4147545 LOC100507053 AU 0.569289 0.8819 0.415039 0.4363 0.8855 Uncertain 4_100131163_G->C 4 100131163 100131163 G C snp 3470.77 1/1 99 111 0 111 1.0 ncRNA_intronic rs6833176 LOC100507053 AU 0.717252 0.8829 Uncertain 4_100134713_-->T 4 100134713 100134713 - T indel 5404.73 1/1 99 120 0 120 1.0 ncRNA_intronic rs5860571 LOC100507053 AU 0.790735 0.9385 0.683357 0.6649 0.9411 Uncertain 4_100137534_G->C 4 100137534 100137534 G C snp 80.28 1/1 9 5 0 5 1.0 ncRNA_intronic rs4699733 LOC100507053 AU 0.727037 0.9058 Uncertain 4_100140306_A->T 4 100140306 100140306 A T snp 2787.77 1/1 99 105 1 104 0.99 exonic rs4699735 ADH6 AU nonsynonymous SNV NM_000672 exon1 c.T4A p.C2S 1 1 0.999692 0.9997 1 1 T 0.000 P -0.993 T 0.001 T 0.0 T Pathogenic 4_100200509_C->T 4 100200509 100200509 C T snp 1307.77 1/1 96 41 0 41 1.0 ncRNA_intronic rs3819197 LOC100507053 AU 0.40016 0.7986 Uncertain 4_100231342_G->A 4 100231342 100231342 G A snp 404.77 1/1 30 15 0 15 1.0 intronic rs10033960 ADH1B AU,AO NM_000668 exon2 c.2925-579G>A 0.365016 0.7976 Uncertain 4_100235053_A->G 4 100235053 100235053 A G snp 8249.77 1/1 99 250 0 250 1.0 exonic rs1789882 ADH1B AU,AO synonymous SNV NM_000668 exon6 c.T753C p.I251I 0.829673 0.9157 0.808486 0.8163 0.9148 Uncertain 4_100258054_C->A 4 100258054 100258054 C A snp 7041.77 1/1 99 237 0 237 1.0 intronic rs1693453 ADH1C AO NM_000669 exon1 c.25+121C>A 0.975439 0.999 Uncertain 4_100258155_C->T 4 100258155 100258155 C T snp 695.77 0/1 99 48 26 22 0.46 intronic rs1614972 ADH1C AO NM_000669 exon1 c.25+222C>T 0.520367 0.7639 Uncertain 4_100258224_A->C 4 100258224 100258224 A C snp 44.74 1/1 6 2 0 2 1.0 intronic rs1391088 ADH1C AO NM_000669 exon1 c.25+291A>C 0.951677 0.999 Uncertain 4_100260670_CCC->- 4 100260670 100260672 CCC - indel 746.73 ./1 99 22 0 22 1.0 intronic rs5860576 ADH1C AO NM_000669 exon2 c.2825-63_2825-61delCCC Uncertain 4_100260670_C->- 4 100260670 100260670 C - indel 746.73 ./1 99 22 0 22 1.0 intronic rs573213987 ADH1C AO NM_000669 exon2 c.2825-63delC Uncertain 4_100260679_C->T 4 100260679 100260679 C T snp 546.77 0/1 99 29 9 20 0.69 intronic rs561222871 ADH1C AO NM_000669 exon2 c.2825-54C>T 0.113618 0.1518 Uncertain 4_100260681_C->A 4 100260681 100260681 C A snp 161.77 0/1 99 32 23 9 0.28 intronic rs1975438 ADH1C AO NM_000669 exon2 c.2825-52C>A 0.524161 0.6329 Uncertain 4_100266133_T->C 4 100266133 100266133 T C snp 2676.77 0/1 99 198 94 104 0.53 exonic rs2241894 ADH1C AO unknown 0.471645 0.7639 0.301092 0.3088 0.7678 Uncertain 4_100268131_C->T 4 100268131 100268131 C T snp 304.77 0/1 99 14 5 9 0.64 intronic rs3762896 ADH1C AO NM_000669 exon7 c.10254-31C>T 0.477436 0.7639 0.324773 0.3325 0.7681 Uncertain 4_100268190_A->C 4 100268190 100268190 A C snp 1925.77 1/1 99 61 0 61 1.0 exonic rs283413 ADH1C AO unknown 0.992812 0.999 0.991615 0.9848 0.9995 CLINSIG=other;CLNDBN=Parkinson_disease\x2c_mitochondrial;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000019812.1;CLNDSDB=GeneReviews:MedGen:OMIM;CLNDSDBID=NBK1223:C1838867:556500 ID=CM050165;DIS=Parkinson disease, association with;TAG=DP;PUB=15642852 DP Uncertain 4_100341643_G->A 4 100341643 100341643 G A snp 2011.77 1/1 99 71 0 71 1.0 intronic rs1154460 ADH7 AU NM_000673 exon4 c.7385-46G>A 0.422324 0.3552 0.460704 0.4493 0.3558 Uncertain 4_100341861_C->T 4 100341861 100341861 C T snp 991.77 0/1 99 115 69 46 0.4 exonic rs971074 ADH7 AU synonymous SNV NM_000673 exon6 c.G690A p.R230R 0.119808 0.12 0.137552 0.1208 0.1024 Uncertain 4_100348837_-->T 4 100348837 100348837 - T indel 187.73 0/1 99 20 8 12 0.6 intronic rs11480228 ADH7 AU NM_000673 exon5 c.14625-92insT 0.309704 0.3482 Uncertain 4_100348872_G->A 4 100348872 100348872 G A snp 1029.77 0/1 99 82 32 50 0.61 intronic rs12504511 ADH7 AU NM_000673 exon5 c.14625-57G>A 0.0756789 0.122 Uncertain 4_100356179_C->T 4 100356179 100356179 C T snp 1626.77 0/1 99 141 74 67 0.48 intronic rs1154469 ADH7 AU NM_001166504 exon9 c.21879-4C>T 0.248203 0.2381 0.262374 0.2980 0.3073 Uncertain 4_100356337_G->A 4 100356337 100356337 G A snp 3208.76 0/1 99 250 119 131 0.52 intronic rs1154470 ADH7 AU NM_000673 exon9 c.22068-35G>A 0.242013 0.2381 0.262802 0.3301 0.2681 Uncertain 4_100443516_G->T 4 100443516 100443516 G T snp 30.77 0/1 33 4 1 3 0.75 intronic rs115042728 C4orf17 AU NM_032149 exon3 c.9418-140G>T Uncertain 4_100443782_T->C 4 100443782 100443782 T C snp 963.77 0/1 99 75 34 41 0.55 exonic rs13119384 C4orf17 AU nonsynonymous SNV NM_032149 exon3 c.T253C p.S85P 0.57528 0.4018 0.408273 0.4333 0.3278 0.36 T 0.0 P -1.016 T 0.0 T 0.0 T Pathogenic 4_100443853_A->G 4 100443853 100443853 A G snp 333.77 0/1 99 24 13 11 0.46 exonic rs17029090 C4orf17 AU synonymous SNV NM_032149 exon3 c.A324G p.P108P 0.119609 0.1558 0.090727 0.0514 0.1279 Uncertain 4_100445786_A->G 4 100445786 100445786 A G snp 363.77 0/1 99 46 29 17 0.37 intronic rs7697177 C4orf17 AU NM_032149 exon4 c.11504+44A>G 0.119609 0.2123 0.090713 0.0607 0.1940 Uncertain 4_100451197_C->T 4 100451197 100451197 C T snp 562.77 0/1 99 35 18 17 0.49 intronic rs2089079 C4orf17 AU NM_032149 exon5 c.16877+82C>T 0.375 0.3502 Uncertain 4_100457117_-->CAGT 4 100457117 100457117 - CAGT indel 819.73 0/1 99 39 24 15 0.38 intronic rs111869659 C4orf17 AU NM_032149 exon6 c.24587-1708insCAGT 0.374601 0.3502 0.3725 0.3333 Uncertain 4_100457344_C->T 4 100457344 100457344 C T snp 338.77 0/1 99 26 13 13 0.5 intronic rs10019266 C4orf17 AU NM_032149 exon6 c.24587-1481C>T 0.374601 0.3502 Uncertain 4_100458721_T->C 4 100458721 100458721 T C snp 588.77 0/1 99 47 23 24 0.51 intronic rs10516442 C4orf17 AU NM_032149 exon6 c.24587-104T>C 0.120008 0.2143 Uncertain 4_100478372_A->T 4 100478372 100478372 A T snp 516.77 0/1 99 36 16 20 0.56 intronic rs34446513 TRMT10A AR NM_001134665 exon5 c.8257-129A>T 0.117812 0.2113 Uncertain 4_100504575_G->C 4 100504575 100504575 G C snp 781.77 0/1 99 60 29 31 0.52 exonic rs2306986 MTTP AR,AU nonsynonymous SNV NM_000253 exon4 c.G294C p.E98D 0.118211 0.2143 0.089895 0.0606 0.1935 0.001 P -1.015 T 0.712 T 0.305 P Pathogenic 4_100510859_T->C 4 100510859 100510859 T C snp 1461.77 0/1 99 116 54 62 0.53 exonic rs991811 MTTP AR,AU synonymous SNV NM_000253 exon5 c.T453C p.G151G 0.544329 0.6706 0.492696 0.4036 0.6497 Uncertain 4_100510903_A->G 4 100510903 100510903 A G snp 1026.77 0/1 99 72 30 42 0.58 exonic rs3792683 MTTP AR,AU nonsynonymous SNV NM_000253 exon5 c.A497G p.N166S 0.114417 0.2143 0.085653 0.0598 0.1942 0.73 T 0.002 P -0.969 T 0.425 T 0.138 T Pathogenic 4_100512412_T->C 4 100512412 100512412 T C snp 2051.77 0/1 99 191 100 91 0.48 exonic rs982424 MTTP AR,AU synonymous SNV NM_000253 exon6 c.T522C p.C174C 0.164537 0.2232 0.127787 0.0928 0.1965 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000117638.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 4_100516022_C->G 4 100516022 100516022 C G snp 2524.77 0/1 99 197 93 104 0.53 exonic rs2306985 MTTP AR,AU nonsynonymous SNV NM_000253 exon8 c.C891G p.H297Q 0.542332 0.6706 0.489543 0.4028 0.6500 0.54 T 0.0 P -0.997 T 0.0 T 0.0 T CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000117640.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 4_100542482_A->G 4 100542482 100542482 A G snp 274.77 0/1 99 20 11 9 0.45 intronic rs881981 MTTP AR,AU NM_001300785 exon17 c.57136+94A>G 0.542732 0.6706 Uncertain 4_100575398_C->T 4 100575398 100575398 C T snp 3097.77 0/1 99 249 129 120 0.48 intergenic rs17029269 MTTP AR,AU 0.139776 0.2222 0.0492 0.2059 Uncertain 4_100575441_C->T 4 100575441 100575441 C T snp 2945.77 0/1 99 248 126 122 0.49 intergenic MTTP AR,AU 0.29 T -1.019 T Uncertain 4_100575483_G->T 4 100575483 100575483 G T snp 2611.77 0/1 99 221 107 114 0.52 intergenic rs13114983 MTTP AR,AU 0.141573 0.2212 0.0493 0.2059 0.33 T -0.953 T Uncertain 4_100738035_G->T 4 100738035 100738035 G T snp 828.77 0/1 99 73 39 34 0.47 UTR5 rs715239 DAPP1 AU 0.463858 0.4226 0.468659 0.4739 0.4775 Uncertain 4_100761756_T->C 4 100761756 100761756 T C snp 110.77 0/1 99 10 6 4 0.4 intronic rs3737485 DAPP1 AU NM_014395 exon3 c.23509+177T>C 0.0856629 0.254 Uncertain 4_100782681_A->G 4 100782681 100782681 A G snp 1489.77 0/1 99 122 61 61 0.5 intronic rs2282587 DAPP1 AU NM_014395 exon5 c.44664-53A>G 0.100639 0.255 0.044021 Uncertain 4_100784875_-->T 4 100784875 100784875 - T indel 77.73 0/1 99 40 13 27 0.68 intronic rs61359294 DAPP1 AU NM_014395 exon7 c.46856-51insT Uncertain 4_100787665_T->G 4 100787665 100787665 T G snp 1659.77 0/1 99 160 89 71 0.44 intronic rs28445732 DAPP1 AU NM_014395 exon8 c.49208+387T>G 0.117812 0.256 0.060030 0.0940 0.2246 Uncertain 4_100787670_G->T 4 100787670 100787670 G T snp 1615.77 0/1 99 161 90 71 0.44 intronic rs78793210 DAPP1 AU NM_014395 exon8 c.49208+392G>T 0.117812 0.256 0.0940 0.2236 Uncertain 4_100787671_A->G 4 100787671 100787671 A G snp 1641.77 0/1 99 164 92 72 0.44 intronic rs28705829 DAPP1 AU NM_014395 exon8 c.49208+393A>G 0.117812 0.256 0.0940 0.2243 Uncertain 4_100805207_C->A 4 100805207 100805207 C A snp 185.77 0/1 99 19 11 8 0.42 intronic rs6532835 LAMTOR3 AU NM_021970 exon2 c.2068-11C>A 0.53774 0.4157 0.550823 0.4700 0.3972 Uncertain 4_100829746_T->C 4 100829746 100829746 T C snp 37.77 0/1 66 6 4 2 0.33 intronic rs7676564 DNAJB14 AU NM_001278310 exon5 c.7683-121T>C 0.461661 0.4107 Uncertain 4_101331343_C->T 4 101331343 101331343 C T snp 1163.77 0/1 99 110 61 49 0.45 intronic rs67832221 EMCN AU 0.426717 0.7867 Uncertain 4_101337150_C->T 4 101337150 101337150 C T snp 280.77 0/1 99 23 8 15 0.65 intronic rs4699401 EMCN AU NM_016242 exon3 c.5639+34C>T 0.186701 0.1329 0.307710 0.3277 0.1266 Uncertain 4_101338217_T->C 4 101338217 101338217 T C snp 1214.77 0/1 99 121 66 55 0.45 intronic rs3733437 EMCN AU NM_016242 exon4 c.6796-56T>C 0.330272 0.1359 0.507446 Uncertain 4_101368501_A->G 4 101368501 101368501 A G snp 168.77 0/1 99 14 6 8 0.57 intronic rs1157181 EMCN AU NM_016242 exon8 c.37212-188A>G 0.533347 0.7927 Uncertain 4_101368661_A->G 4 101368661 101368661 A G snp 1122.77 0/1 99 88 37 51 0.58 intronic rs1157180 EMCN AU NM_016242 exon8 c.37212-28A>G 0.179912 0.128 0.288263 0.3063 0.1266 Uncertain 4_101396352_G->A 4 101396352 101396352 G A snp 237.77 0/1 99 22 10 12 0.55 intronic rs36110054 EMCN AU NM_016242 exon10 c.64789+86G>A 0.367612 0.7887 Uncertain 4_101401002_A->G 4 101401002 101401002 A G snp 189.77 0/1 99 13 6 7 0.54 intronic rs60988328 EMCN AU NM_016242 exon11 c.69596-71A>G 0.324081 0.7222 Uncertain 4_101401162_AAC->- 4 101401162 101401164 AAC - indel 1891.73 0/1 99 69 31 38 0.55 exonic rs367883693 EMCN AU nonframeshift deletion NM_001159694 exon2 c.97_99del p.33_33del 0.347644 0.7202 0.140937 0.2211 0.7188 Uncertain 4_102171591_T->G 4 102171591 102171591 T G snp 794.77 1/1 60 26 0 26 1.0 intronic rs2583404 PPP3CA AU NM_000944 exon13 c.170252+54318T>G 0.894569 0.8254 Uncertain 4_102171606_A->G 4 102171606 102171606 A G snp 705.77 1/1 54 21 0 21 1.0 intronic rs2850958 PPP3CA AU NM_000944 exon13 c.170252+54333A>G 0.894369 0.8254 Uncertain 4_102251501_T->C 4 102251501 102251501 T C snp 1073.77 0/1 99 58 16 42 0.72 ncRNA_exonic rs28664200 MIR1255A AU 0.368211 0.5089 0.260443 0.4482 0.5997 Uncertain 4_102251782_C->T 4 102251782 102251782 C T snp 80.77 0/1 65 5 2 3 0.6 intronic rs2583394 PPP3CA AU NM_000944 exon14 c.320874-16113C>T 0.524161 0.5427 Uncertain 4_102267821_A->C 4 102267821 102267821 A C snp 1182.77 0/1 99 126 78 48 0.38 intronic rs2850327 PPP3CA AU NM_000944 exon14 c.320874-74A>C 0.53774 0.4901 Uncertain 4_102267822_A->G 4 102267822 102267822 A G snp 1274.77 0/1 99 133 81 52 0.39 intronic rs2583390 PPP3CA AU NM_000944 exon14 c.320874-73A>G 0.537141 0.4881 Uncertain 4_102642344_A->G 4 102642344 102642344 A G snp 35.77 0/1 64 6 4 2 0.33 intergenic rs7660525 FLJ20021 AU 0.604633 0.504 Uncertain 4_102642453_T->C 4 102642453 102642453 T C snp 1673.77 1/1 99 62 0 62 1.0 intergenic rs10856962 FLJ20021 AU 0.880591 0.9097 Uncertain 4_102642526_T->C 4 102642526 102642526 T C snp 1298.77 0/1 99 137 77 60 0.44 intergenic rs12506517 FLJ20021 AU 0.585663 0.503 0.6706 0.5106 Uncertain 4_102750922_T->C 4 102750922 102750922 T C snp 299.77 0/1 99 24 12 12 0.5 intronic rs17266594 BANK1 AU NM_017935 exon2 c.38927-42T>C 0.21865 0.1865 0.263914 0.2976 0.2028 ID=CS080649;DIS=Systemic lupus erythematosus, protection against, association;TAG=DFP;PUB=18204447 DFP Uncertain 4_102751076_G->A 4 102751076 102751076 G A snp 2085.77 0/1 99 200 106 94 0.47 exonic rs10516487 BANK1 AU nonsynonymous SNV NM_017935 exon2 c.G182A p.R61H 0.21845 0.1875 0.283331 0.2547 0.1582 0.14 T 0.0 P -0.909 T 0.06 T 0.014 T CLINSIG=other;CLNDBN=Systemic_lupus_erythmatosus\x2c_association_with;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000001331.2;CLNDSDB=.;CLNDSDBID=. ID=CM080095;DIS=Systemic lupus erythematosus, protection against, association;TAG=DFP;PUB=18204447 DFP Pathogenic 4_102751276_C->T 4 102751276 102751276 C T snp 995.77 0/1 99 120 73 47 0.39 exonic rs10516486 BANK1 AU synonymous SNV NM_017935 exon2 c.C382T p.L128L 0.540335 0.504 0.488621 0.4285 0.4642 Uncertain 4_102751402_TTT->- 4 102751402 102751404 TTT - indel 358.73 ./1 99 24 0 24 1.0 intronic rs58497383 BANK1 AU NM_017935 exon2 c.39326+39_39326+41delTTT 0.317492 0.3353 0.3838 0.3266 Uncertain 4_102751402_T->- 4 102751402 102751402 T - indel 358.73 ./1 99 24 0 24 1.0 intronic rs549870165 BANK1 AU NM_017935 exon2 c.39326+39delT 0.16853 0.2937 0.1816 0.2868 Uncertain 4_102776406_T->G 4 102776406 102776406 T G snp 969.77 0/1 99 72 35 37 0.51 intronic rs13145804 BANK1 AU NM_017935 exon3 c.64309+60T>G 0.127596 0.244 Uncertain 4_102791905_C->G 4 102791905 102791905 C G snp 682.77 0/1 99 42 18 24 0.57 intronic rs10516483 BANK1 AU NM_017935 exon5 c.79764+104C>G 0.578075 0.5923 Uncertain 4_102816467_C->G 4 102816467 102816467 C G snp 834.77 0/1 99 57 22 35 0.61 exonic rs62321738 BANK1 AU nonsynonymous SNV NM_017935 exon6 c.C909G p.S303R 0.107029 0.1706 0.053162 0.0893 0.1788 0.01 T 0.0 P -1.003 T 0.374 T 0.277 T Pathogenic 4_102839362_A->T 4 102839362 102839362 A T snp 340.77 0/1 99 30 17 13 0.43 intronic rs3733198 BANK1 AU NM_017935 exon7 c.127309+16A>T 0.923123 0.8889 0.973249 0.9239 0.8474 Uncertain 4_102942761_C->T 4 102942761 102942761 C T snp 151.77 0/1 99 11 6 5 0.45 intronic rs2631261 BANK1 AU NM_017935 exon8 c.230712+12C>T 0.384185 0.3333 0.2999 0.3653 Uncertain 4_102946347_A->G 4 102946347 102946347 A G snp 1600.77 0/1 99 130 65 65 0.5 intronic rs2035604 BANK1 AU NM_017935 exon9 c.234320-10A>G 0.122005 0.1766 0.082193 0.1180 0.1818 Uncertain 4_102965043_T->C 4 102965043 102965043 T C snp 670.77 1/1 48 26 0 26 1.0 exonic rs3113676 BANK1 AU nonsynonymous SNV NM_017935 exon11 c.T1948C p.C650R 0.996805 1 0.990618 0.9915 1 0.4 T 0.0 P -1.001 T 0.0 T 0.0 T Pathogenic 4_102984420_A->G 4 102984420 102984420 A G snp 823.77 0/1 99 86 52 34 0.4 intronic rs546231322 BANK1 AU NM_017935 exon13 c.272258+125A>G 0.000199681 0.001 Uncertain 4_102992517_T->C 4 102992517 102992517 T C snp 292.77 0/1 99 42 27 15 0.36 intronic rs34184671 BANK1 AU NM_017935 exon14 c.280424+56T>C 0.247005 0.2748 0.215132 Uncertain 4_103174309_C->T 4 103174309 103174309 C T snp 46.77 0/1 36 4 2 2 0.5 intergenic rs151371 BANK1 AU 0.499401 0.4355 Uncertain 4_103174491_A->G 4 103174491 103174491 A G snp 1587.77 0/1 99 138 69 69 0.5 intergenic rs151370 BANK1 AU 0.576278 0.4355 0.649365 Uncertain 4_103184089_A->G 4 103184089 103184089 A G snp 71.77 0/1 99 8 5 3 0.38 UTR3 rs151393 SLC39A8 AR 0.679513 0.5456 Uncertain 4_103228545_G->A 4 103228545 103228545 G A snp 287.77 0/1 99 21 9 12 0.57 intronic rs1462947 SLC39A8 AR NM_001135148 exon6 c.44392-47G>A 0.27496 0.0982 0.318853 0.3046 0.0912 Uncertain 4_103458877_G->A 4 103458877 103458877 G A snp 436.77 1/1 33 12 0 12 1.0 intronic rs230525 NFKB1 AD NM_001165412 exon5 c.12339-137G>A 0.689896 0.5585 Uncertain 4_103458889_CA->- 4 103458889 103458890 CA - indel 672.73 1/1 42 14 0 14 1.0 intronic rs3830689 NFKB1 AD NM_001165412 exon5 c.12339-125_12339-124delCA 0.585264 0.5159 Uncertain 4_103514658_T->C 4 103514658 103514658 T C snp 1789.77 1/1 99 65 0 65 1.0 exonic rs1609993 NFKB1 AD synonymous SNV NM_003998 exon12 c.T1143C p.A381A 0.969848 0.999 0.942027 0.9401 0.9990 Uncertain 4_103594918_T->C 4 103594918 103594918 T C snp 391.77 1/1 30 11 0 11 1.0 intronic rs227276 MANBA AR NM_005908 exon10 c.41862-157T>C 0.432508 0.505 Uncertain 4_103594938_G->A 4 103594938 103594938 G A snp 1089.77 1/1 81 30 0 30 1.0 intronic rs227277 MANBA AR NM_005908 exon10 c.41862-137G>A 0.508387 0.505 Uncertain 4_103610872_A->G 4 103610872 103610872 A G snp 1287.77 1/1 93 50 0 50 1.0 intronic rs227365 MANBA AR NM_005908 exon11 c.57628+31A>G 0.634585 0.7927 0.587462 0.6568 0.7666 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000081338.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 4_103611845_C->T 4 103611845 103611845 C T snp 5167.77 1/1 99 208 0 208 1.0 exonic rs227368 MANBA AR nonsynonymous SNV NM_005908 exon6 c.G757A p.V253I 0.376597 0.4732 0.385207 0.4427 0.4462 0.34 T 0.000 P -0.903 T 0.037 T 0.003 T Pathogenic 4_103911069_C->A 4 103911069 103911069 C A snp 1793.77 1/1 99 72 0 72 1.0 exonic rs2715591 SLC9B1 AU nonsynonymous SNV NM_001100874 exon3 c.G99T p.Q33H 0.998403 1 0.995918 0.9968 0.9999 0.55 T 0.0 P -0.991 T 0.0 T 0.0 T Pathogenic 4_103965892_C->T 4 103965892 103965892 C T snp 286.77 0/1 99 16 7 9 0.56 intronic rs201866607 SLC9B2 AU NM_178833 exon5 c.18520-154C>T Uncertain 4_104510766_G->A 4 104510766 104510766 G A snp 629.77 1/1 48 20 0 20 1.0 UTR3 rs2765 TACR3 AR 0.550319 0.4931 Uncertain 4_106154991_ATAGATAG->- 4 106154991 106154998 ATAGATAG - indel 380.73 0/1 99 10 5 5 0.5 ncRNA_intronic rs58201766 TET2-AS1 AU Uncertain 4_106164284_T->G 4 106164284 106164284 T G snp 38.77 0/1 33 3 1 2 0.67 ncRNA_intronic rs55838312 TET2-AS1 AU 0.243411 0.1905 Uncertain 4_106196951_A->G 4 106196951 106196951 A G snp 2293.77 0/1 99 181 89 92 0.51 exonic rs2454206 TET2 AU nonsynonymous SNV NM_001127208 exon11 c.A5284G p.I1762V 0.230431 0.1895 0.287341 0.2951 0.1941 0.58 T 0.000 P -0.904 T 0.012 T 0.026 T CLINSIG=untested,untested;CLNDBN=not_specified,not_specified;CLNREVSTAT=no_assertion_provided,no_assertion_provided;CLNACC=RCV000122102.1,RCV000122103.1;CLNDSDB=MedGen,MedGen;CLNDSDBID=CN169374,CN169374 ID=COSM3760322;OCCURENCE=1(haematopoietic_and_lymphoid_tissue),1(thyroid),1(large_intestine) Pathogenic 4_106290829_-->CTTGGGGAAAAAGAGT 4 106290829 106290829 - CTTGGGGAAAAAGAGT indel 13605.7 0/1 99 198 117 81 0.41 UTR3 rs11267164 PPA2 AU 0.347444 0.4395 0.305320 Uncertain 4_106292121_G->C 4 106292121 106292121 G C snp 190.9 1/1 15 9 0 9 1.0 intronic rs2726526 PPA2 AU NM_176869 exon2 c.1149+91G>C 0.653355 0.6815 Uncertain 4_106317429_C->G 4 106317429 106317429 C G snp 175.77 0/1 99 28 18 10 0.36 exonic rs13787 PPA2 AU nonsynonymous SNV NM_176867 exon3 c.G348C p.K116N 0.432708 0.6766 0.346923 0.4544 0.6777 0.14 T 1.000 P -0.964 T 0.57 P 0.198 P Pathogenic 4_106317499_CAAA->- 4 106317499 106317502 CAAA - indel 974.73 0/1 99 39 19 20 0.51 intronic rs34331553 PPA2 AU NM_176869 exon4 c.26610+8_26610+11delCAAA 0.429113 0.6766 0.340855 0.4502 0.6752 Uncertain 4_106320399_G->C 4 106320399 106320399 G C snp 261.77 0/1 99 23 13 10 0.43 intronic rs1490593 PPA2 AU NM_176869 exon5 c.29440+78G>C 0.432508 0.6756 Uncertain 4_106320446_G->A 4 106320446 106320446 G A snp 114.77 0/1 99 9 5 4 0.44 intronic rs1490594 PPA2 AU NM_176869 exon5 c.29440+125G>A 0.432508 0.6756 Uncertain 4_106359209_T->A 4 106359209 106359209 T A snp 382.77 0/1 99 31 15 16 0.52 intronic rs2713862 PPA2 AU NM_176869 exon7 c.68312+16T>A 0.445088 0.6696 0.196429 0.4509 0.6504 Uncertain 4_106370816_A->T 4 106370816 106370816 A T snp 139.03 1/1 12 4 0 4 1.0 intronic rs2046880 PPA2 AU NM_176869 exon9 c.79679+256A>T 0.830871 0.5734 Uncertain 4_106474096_T->C 4 106474096 106474096 T C snp 1662.77 1/1 99 56 0 56 1.0 exonic rs6533206 ARHGEF38 AU synonymous SNV NM_001242729 exon1 c.T174C p.T58T 0.9998 1 0.9999 1 Uncertain 4_106848314_C->T 4 106848314 106848314 C T snp 558.77 1/1 42 15 0 15 1.0 intronic rs4546247 NPNT AU NM_001184692 exon3 c.31683-178C>T 0.86881 1 Uncertain 4_106848703_C->T 4 106848703 106848703 C T snp 930.77 1/1 69 26 0 26 1.0 intronic rs10856978 NPNT AU NM_001184692 exon3 c.31776+118C>T 0.885583 1 Uncertain 4_106859462_C->T 4 106859462 106859462 C T snp 1506.77 0/1 99 157 84 73 0.46 exonic rs766140495 NPNT AU synonymous SNV NM_001033047 exon5 c.C390T p.A130A 1.662e-05 0.0002 1 D -0.912 T Likely benign 4_106861557_A->T 4 106861557 106861557 A T snp 1284.77 1/1 96 36 0 36 1.0 intronic rs4627867 NPNT AU NM_001184692 exon7 c.44861-113A>T 0.942292 1 Uncertain 4_106861730_A->G 4 106861730 106861730 A G snp 5283.77 1/1 99 190 0 190 1.0 exonic rs4340795 NPNT AU nonsynonymous SNV NM_001033047 exon7 c.A700G p.I234V 0.889377 1 0.849531 0.9159 0.9994 0.23 T 0.000 P -0.956 T 0.0 T 0.002 T Pathogenic 4_106891531_A->G 4 106891531 106891531 A G snp 923.77 1/1 66 33 0 33 1.0 UTR3 rs6817700 NPNT AU 0.553315 0.7877 0.5674 0.7525 Uncertain 4_106892210_T->G 4 106892210 106892210 T G snp 441.77 1/1 33 14 0 14 1.0 UTR3 rs4449421 NPNT AU 0.961661 1 Uncertain 4_106924931_G->A 4 106924931 106924931 G A snp 757.77 0/1 99 96 58 38 0.4 ncRNA_exonic rs17258724 LOC101929577 AU 0.267772 0.3968 0.3478 0.3433 Uncertain 4_107092169_A->G 4 107092169 107092169 A G snp 647.77 0/1 99 31 10 21 0.68 intronic rs10516532 TBCK AR NM_001163436 exon4 c.124525-82A>G 0.14976 0.1468 Uncertain 4_107115960_A->G 4 107115960 107115960 A G snp 261.77 0/1 99 29 16 13 0.45 intronic rs12506062 TBCK AR NM_001163436 exon6 c.148185+49A>G 0.198083 0.1468 0.189780 0.1895 0.1482 Uncertain 4_107133919_A->G 4 107133919 107133919 A G snp 630.77 0/1 99 71 38 33 0.46 exonic rs17036613 TBCK AR synonymous SNV NM_033115 exon18 c.T1659C p.G553G 0.213059 0.1468 0.206891 0.1913 0.1421 Uncertain 4_107154273_T->C 4 107154273 107154273 T C snp 790.77 0/1 99 59 25 34 0.58 intronic rs13138528 TBCK AR NM_001163436 exon10 c.186495+52T>C 0.552716 0.5635 0.595074 0.6049 0.6028 Uncertain 4_107156365_C->G 4 107156365 107156365 C G snp 761.77 0/1 99 69 38 31 0.45 intronic rs7668276 TBCK AR NM_001163436 exon12 c.188699-60C>G 0.549121 0.5635 Uncertain 4_107156462_C->T 4 107156462 107156462 C T snp 1641.77 0/1 99 131 49 82 0.63 exonic rs34961213 TBCK AR nonsynonymous SNV NM_033115 exon13 c.G1224A p.M408I 0.136581 0.1468 0.125173 0.1691 0.1437 0.04 T 0.986 P -0.931 T 0.027 T 0.009 T Pathogenic 4_107157700_AA->- 4 107157700 107157701 AA - indel 365.73 0/1 99 29 14 15 0.52 intronic rs113636427 TBCK AR NM_001163436 exon13 c.189950+24_189950+25delAA 0.141503 0.2518 0.2271 Uncertain 4_107158148_C->A 4 107158148 107158148 C A snp 50.74 1/1 6 2 0 2 1.0 intronic rs11938792 TBCK AR NM_001163436 exon14 c.190239+183C>A 0.765176 0.7093 Uncertain 4_107168431_G->C 4 107168431 107168431 G C snp 4374.77 1/1 99 165 0 165 1.0 exonic rs3775091 TBCK AR nonsynonymous SNV NM_033115 exon8 c.C607G p.Q203E 0.992013 0.9683 0.999769 0.9944 0.9733 1 T 0.000 P -0.933 T 0.0 T 0.001 T Pathogenic 4_107168520_G->T 4 107168520 107168520 G T snp 227.77 0/1 99 35 26 9 0.26 intronic rs3775090 TBCK AR NM_001163436 exon17 c.200718+76G>T 0.147764 0.1468 Uncertain 4_107171638_AAATA->- 4 107171638 107171642 AAATA - indel 318.73 0/1 99 15 7 8 0.53 splicing rs139991421 TBCK AR NM_001163436 exon20 c.203909+3_203909+7delAAATA 0.136581 0.1468 0.121847 0.1701 0.1450 Pathogenic 4_107172182_C->T 4 107172182 107172182 C T snp 1049.77 0/1 99 79 43 36 0.46 intronic rs12641015 TBCK AR NM_001163436 exon20 c.203909+547C>T 0.197883 0.1458 Uncertain 4_107172377_C->G 4 107172377 107172377 C G snp 336.77 0/1 99 62 47 15 0.24 intronic rs13113845 TBCK AR NM_001163436 exon21 c.205296-645C>G 0.552316 0.5635 0.6669 0.7162 Uncertain 4_107176104_C->A 4 107176104 107176104 C A snp 151.77 0/1 99 17 10 7 0.41 intronic rs12639869 TBCK AR NM_001290768 exon22 c.208377+1C>A 0.147564 0.1458 Uncertain 4_107246136_C->A 4 107246136 107246136 C A snp 40.77 0/1 69 9 6 3 0.33 splicing rs3737498 AIMP1 AR NM_001142416 exon2 c.8437-5C>A 0.18111 0.1468 0.166564 0.2202 0.1883 Pathogenic 4_107248890_T->C 4 107248890 107248890 T C snp 44.77 0/1 33 3 1 2 0.67 intronic rs3792718 AIMP1 AR NM_001142416 exon3 c.11017+169T>C 0.135783 0.1468 Uncertain 4_107257975_A->T 4 107257975 107257975 A T snp 618.77 0/1 99 37 14 23 0.62 intronic rs3737497 AIMP1 AR NM_001142416 exon6 c.20321-50A>T 0.135583 0.1468 0.125115 0.1657 0.1418 Uncertain 4_107279450_C->T 4 107279450 107279450 C T snp 636.77 0/1 99 63 35 28 0.44 exonic rs7654865 GIMD1 AU nonsynonymous SNV NM_001195138 exon2 c.G544A p.V182I 0.161342 0.1468 0.2041 0.1173 Pathogenic 4_107279482_T->A 4 107279482 107279482 T A snp 854.77 0/1 99 92 52 40 0.43 exonic rs12645490 GIMD1 AU nonsynonymous SNV NM_001195138 exon2 c.A512T p.K171I 0.170327 0.1468 0.2069 0.1162 Pathogenic 4_107845794_C->T 4 107845794 107845794 C T snp 2254.77 1/1 99 90 1 89 0.99 exonic rs17037102 DKK2 AU nonsynonymous SNV NM_014421 exon3 c.G437A p.R146Q 0.165535 0.3859 0.078579 0.1365 0.3850 0.1 T 0.949 P -1.041 T 1.0 D 0.992 D ID=CM099894;DIS=Schizophrenia, association with;TAG=DP;PUB=19435634 DP Pathogenic 4_108048977_A->C 4 108048977 108048977 A C snp 567.77 0/1 99 36 14 22 0.61 intergenic rs2158182 DKK2 AU 0.789936 0.8026 Uncertain 4_108581003_C->- 4 108581003 108581003 C - indel 1090.73 1/1 96 32 0 32 1.0 intronic rs11291153 PAPSS1 AU NM_005443 exon7 c.45710-111delC 0.928514 0.8859 Uncertain 4_108608101_TCTAACACT->- 4 108608101 108608109 TCTAACACT - indel 4753.73 1/1 99 41 0 41 1.0 intronic rs35832252 PAPSS1 AU NM_005443 exon9 c.72790-93_72790-85delTCTAACACT 0.769169 0.881 Uncertain 4_108615227_T->- 4 108615227 108615227 T - indel 2050.73 1/1 99 81 0 81 1.0 intronic rs371693146 PAPSS1 AU NM_005443 exon10 c.79758+65delT 0.800519 0.873 Uncertain 4_108622241_C->T 4 108622241 108622241 C T snp 2250.77 1/1 99 84 0 84 1.0 intronic rs17510783 PAPSS1 AU NM_005443 exon11 c.86922-85C>T 0.458466 0.3978 Uncertain 4_108622475_C->T 4 108622475 108622475 C T snp 1162.77 1/1 87 41 0 41 1.0 intronic rs13110240 PAPSS1 AU NM_005443 exon11 c.87037+34C>T 0.457069 0.3978 0.488851 0.5382 0.4106 Uncertain 4_108641119_C->A 4 108641119 108641119 C A snp 546.77 1/1 42 15 0 15 1.0 intronic rs2522435 PAPSS1 AU NM_005443 exon12 c.105871-156C>A 0.754792 0.8819 Uncertain 4_108641169_C->G 4 108641169 108641169 C G snp 2441.77 1/1 99 76 0 76 1.0 intronic rs2074372 PAPSS1 AU NM_005443 exon12 c.105871-106C>G 0.776158 0.8819 Uncertain 4_108641300_T->C 4 108641300 108641300 T C snp 6629.77 1/1 99 250 0 250 1.0 exonic rs973126 PAPSS1 AU synonymous SNV NM_005443 exon1 c.A36G p.K12K 0.881989 0.8819 0.871675 0.8977 0.8843 Uncertain 4_108641317_G->A 4 108641317 108641317 G A snp 6218.77 1/1 99 244 0 244 1.0 exonic rs1127006 PAPSS1 AU synonymous SNV NM_005443 exon1 c.C19T p.L7L 0.464257 0.3988 0.494925 0.5413 0.4203 Uncertain 4_108641437_C->G 4 108641437 108641437 C G snp 1637.77 1/1 99 46 0 46 1.0 upstream rs2074374 PAPSS1 AU 0.464257 0.3988 Uncertain 4_108641464_A->G 4 108641464 108641464 A G snp 808.77 1/1 60 21 0 21 1.0 upstream rs1319253 PAPSS1 AU 0.881989 0.8819 Uncertain 4_108641465_A->C 4 108641465 108641465 A C snp 768.77 1/1 57 20 0 20 1.0 upstream rs2189154 PAPSS1 AU 0.881989 0.8819 Uncertain 4_108853384_C->G 4 108853384 108853384 C G snp 1060.77 1/1 78 36 0 36 1.0 intronic rs6849089 CYP2U1 AR NM_183075 exon1 c.490+95C>G 0.472444 0.6627 Uncertain 4_108866058_G->A 4 108866058 108866058 G A snp 765.77 1/1 57 24 0 24 1.0 intronic rs10002671 CYP2U1 AR NM_183075 exon2 c.13326-67G>A 0.650559 0.6815 Uncertain 4_108868515_T->C 4 108868515 108868515 T C snp 1703.77 1/1 99 58 0 58 1.0 intronic rs6856745 CYP2U1 AR NM_183075 exon3 c.15732-16T>C 0.650958 0.6825 0.628864 0.6049 0.7306 Uncertain 4_108926170_T->G 4 108926170 108926170 T G snp 729.77 1/1 54 22 0 22 1.0 intronic rs3775973 HADH AR NM_005327 exon2 c.19826-4744T>G 0.872604 0.9762 Uncertain 4_108931039_T->C 4 108931039 108931039 T C snp 3292.77 1/1 99 131 1 130 0.99 exonic rs4956145 HADH AR nonsynonymous SNV NM_005327 exon2 c.T257C p.L86P 0.86901 0.9762 0.849454 0.9150 0.9733 1 T 0.999 P -0.932 T 0.0 T 0.0 T CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000153344.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 4_108935770_T->C 4 108935770 108935770 T C snp 1891.77 1/1 63 73 6 67 0.92 intronic rs7677408 HADH AR NM_005327 exon3 c.24656+26T>C 0.5675 0.5965 Uncertain 4_108935871_G->A 4 108935871 108935871 G A snp 83.28 1/1 9 3 0 3 1.0 intronic rs4956147 HADH AR NM_005327 exon3 c.24656+127G>A 0.86901 0.9762 Uncertain 4_108944579_C->T 4 108944579 108944579 C T snp 3864.77 1/1 99 133 0 133 1.0 intronic rs4956032 HADH AR NM_005327 exon5 c.33541-50C>T 0.86901 0.9762 0.850146 0.9151 0.9733 Uncertain 4_108944821_C->T 4 108944821 108944821 C T snp 1181.77 1/1 87 34 0 34 1.0 intronic rs4956033 HADH AR NM_005327 exon5 c.33631+102C>T 0.86901 0.9762 Uncertain 4_108944846_A->G 4 108944846 108944846 A G snp 699.77 1/1 54 19 0 19 1.0 intronic rs4956034 HADH AR NM_005327 exon5 c.33631+127A>G 0.868411 0.9762 Uncertain 4_108953282_TCTTT->- 4 108953282 108953286 TCTTT - indel 894.73 1/1 36 12 0 12 1.0 intronic rs397824812 HADH AR NM_001184705 exon7 c.42394-200_42394-196delTCTTT 0.860623 0.9762 Uncertain 4_108969590_A->G 4 108969590 108969590 A G snp 1029.77 1/1 75 31 0 31 1.0 UTR3 rs4245927 LEF1 AU 0.773363 0.9643 Uncertain 4_108985388_A->G 4 108985388 108985388 A G snp 2544.77 1/1 99 88 0 88 1.0 intronic rs4613638 LEF1 AU NM_001166119 exon3 c.707-103A>G 0.892572 0.9722 Uncertain 4_108991979_C->T 4 108991979 108991979 C T snp 1275.77 1/1 93 37 0 37 1.0 intronic rs2276335 LEF1 AU NM_001166119 exon4 c.7142+53C>T 0.882588 0.9692 Uncertain 4_108999202_A->- 4 108999202 108999202 A - indel 154.8 1/1 18 6 0 6 1.0 intronic rs10712183 LEF1 AU NM_001166119 exon5 c.14591-173delA 0.74381 0.9683 Uncertain 4_108999300_G->T 4 108999300 108999300 G T snp 3700.77 1/1 99 127 0 127 1.0 intronic rs4956156 LEF1 AU NM_001166119 exon5 c.14591-75G>T 0.882588 0.9692 Uncertain 4_108999366_G->A 4 108999366 108999366 G A snp 7034.77 1/1 99 250 0 250 1.0 intronic rs4956157 LEF1 AU NM_001166119 exon5 c.14591-9G>A 0.751198 0.9683 0.690451 0.8270 0.9657 Uncertain 4_109000536_T->C 4 109000536 109000536 T C snp 261.8 1/1 21 8 0 8 1.0 intronic rs6819640 LEF1 AU NM_001166119 exon6 c.15863-111T>C 0.840855 0.9712 Uncertain 4_109002986_T->C 4 109002986 109002986 T C snp 307.78 1/1 24 9 0 9 1.0 intronic rs7681524 LEF1 AU NM_016269 exon7 c.18041+161T>C 0.852236 0.9722 Uncertain 4_109010207_A->G 4 109010207 109010207 A G snp 533.77 1/1 42 19 0 19 1.0 intronic rs16996935 LEF1 AU NM_001166119 exon8 c.25496-73A>G 0.846446 0.9722 Uncertain 4_109478108_C->G 4 109478108 109478108 C G snp 1076.77 0/1 99 112 68 44 0.39 ncRNA_exonic rs11731416 RPL34-AS1 AU 0.582268 0.5704 0.5532 0.5493 Uncertain 4_109541499_C->T 4 109541499 109541499 C T snp 3051.77 0/1 99 249 120 129 0.52 ncRNA_exonic rs7677415 RPL34-AS1 AU 0.348642 0.5635 0.3380 0.5682 Uncertain 4_109541603_T->A 4 109541603 109541603 T A snp 1340.77 0/1 99 95 47 48 0.51 ncRNA_exonic rs3796936 RPL34-AS1 AU 0.353834 0.5635 0.3459 0.5682 Uncertain 4_109541616_T->C 4 109541616 109541616 T C snp 1242.77 0/1 99 73 36 37 0.51 upstream rs3796935 RPL34 AU 0.566693 0.6012 0.5511 0.6061 Uncertain 4_109541661_T->G 4 109541661 109541661 T G snp 400.77 0/1 99 28 14 14 0.5 upstream rs3796934 RPL34 AU 0.359824 0.5635 0.3673 0.5763 Uncertain 4_109576843_G->T 4 109576843 109576843 G T snp 2264.77 1/1 99 83 1 82 0.99 intronic rs2851380 OSTC AU NM_021227 exon2 c.5002+30G>T 0.882588 0.999 0.796402 0.8292 0.9994 Uncertain 4_109578572_G->A 4 109578572 109578572 G A snp 311.78 1/1 24 9 0 9 1.0 intronic rs2851379 OSTC AU NM_021227 exon3 c.6794-33G>A 0.998203 1 0.995282 0.9956 1 Uncertain 4_109588238_G->C 4 109588238 109588238 G C snp 149.77 0/1 99 11 5 6 0.55 intronic rs2851374 OSTC AU NM_021227 exon4 c.16591-164G>C 0.553714 0.6617 Uncertain 4_109664819_T->C 4 109664819 109664819 T C snp 1205.77 1/1 90 34 0 34 1.0 intronic rs6533381 ETNPPL AU NM_031279 exon2 c.1305-125T>C 0.96905 1 Uncertain 4_109664820_G->C 4 109664820 109664820 G C snp 303.77 0/1 99 34 23 11 0.32 intronic rs7664898 ETNPPL AU NM_031279 exon2 c.1305-124G>C 0.301917 0.5 Uncertain 4_109664895_T->C 4 109664895 109664895 T C snp 1392.77 0/1 99 128 68 60 0.47 intronic rs80066704 ETNPPL AU NM_031279 exon2 c.1305-49T>C 0.180711 0.5 0.063509 0.1124 0.4904 Uncertain 4_109665082_T->C 4 109665082 109665082 T C snp 293.77 0/1 99 20 9 11 0.55 intronic rs74632314 ETNPPL AU NM_031279 exon2 c.1373+70T>C 0.00658946 0.0308 Uncertain 4_109669413_A->T 4 109669413 109669413 A T snp 240.77 0/1 57 10 2 8 0.8 intronic rs77835534 ETNPPL AU NM_031279 exon5 c.5676+98A>T 0.180711 0.5 Uncertain 4_109670312_T->C 4 109670312 109670312 T C snp 643.77 0/1 99 49 29 20 0.41 intronic rs1078132 ETNPPL AU NM_031279 exon6 c.6754-81T>C 0.1877 0.501 Uncertain 4_109672194_G->A 4 109672194 109672194 G A snp 1620.77 0/1 99 112 51 61 0.54 intronic rs2276971 ETNPPL AU NM_031279 exon7 c.8535+20G>A 0.180911 0.498 0.065662 0.1125 0.4873 Uncertain 4_109674116_A->G 4 109674116 109674116 A G snp 3274.77 0/1 99 250 128 122 0.49 exonic rs1377210 ETNPPL AU nonsynonymous SNV NM_031279 exon6 c.T553C p.S185P 0.265375 0.498 0.150777 0.1593 0.4881 0.003 P -0.969 T 0.0 T 0.0 T ID=CM064956;DIS=Colorectal cancer, increased risk, association with;TAG=DP;PUB=17000706 DP Pathogenic 4_109677752_A->G 4 109677752 109677752 A G snp 256.77 0/1 99 19 10 9 0.47 intronic rs75900639 ETNPPL AU NM_031279 exon10 c.14009+104A>G 0.270966 0.496 Uncertain 4_109681267_A->G 4 109681267 109681267 A G snp 1887.77 0/1 99 148 76 72 0.49 intronic rs61525227 ETNPPL AU NM_031279 exon12 c.17704-76A>G 0.27516 0.499 Uncertain 4_109735133_T->C 4 109735133 109735133 T C snp 427.77 0/1 99 32 14 18 0.56 intronic rs2305436 COL25A1 AR NM_198721 exon1 c.3+48T>C 0.485423 0.5258 0.497608 0.5554 0.5209 Uncertain 4_109735146_T->G 4 109735146 109735146 T G snp 349.77 0/1 99 24 9 15 0.63 intronic rs2305435 COL25A1 AR NM_198721 exon1 c.3+61T>G 0.484824 0.5258 0.499780 Uncertain 4_109735209_T->C 4 109735209 109735209 T C snp 44.77 0/1 72 5 2 3 0.6 intronic rs11733727 COL25A1 AR NM_198721 exon1 c.3+124T>C 0.485623 0.5258 Uncertain 4_109745336_T->G 4 109745336 109745336 T G snp 1473.77 0/1 99 164 91 73 0.45 exonic rs7689008 COL25A1 AR synonymous SNV NM_198721 exon34 c.A1839C p.G613G 0.310104 0.3502 0.351794 0.3279 0.3882 Uncertain 4_109759112_G->A 4 109759112 109759112 G A snp 334.78 1/1 27 9 0 9 1.0 intronic rs28616003 COL25A1 AR NM_001256074 exon5 c.14008-141G>A 0.727236 0.9802 Uncertain 4_109759469_C->T 4 109759469 109759469 C T snp 580.77 0/1 99 39 20 19 0.49 intronic rs4956063 COL25A1 AR NM_001256074 exon5 c.14089+135C>T 0.519968 0.625 Uncertain 4_109759534_C->T 4 109759534 109759534 C T snp 40.74 1/1 6 2 0 2 1.0 intronic rs4956215 COL25A1 AR NM_001256074 exon5 c.14089+200C>T 0.746805 0.9802 Uncertain 4_109762918_C->A 4 109762918 109762918 C A snp 1450.77 0/1 99 96 41 55 0.57 intronic rs11942576 COL25A1 AR NM_032518 exon5 c.17632+41C>A 0.672724 0.6766 0.605999 0.6598 0.6321 Uncertain 4_109766177_G->C 4 109766177 109766177 G C snp 347.78 1/1 27 10 0 10 1.0 intronic rs10015534 COL25A1 AR NM_032518 exon7 c.21099-167G>C 0.947883 0.998 Uncertain 4_109766290_T->G 4 109766290 109766290 T G snp 3759.77 1/1 99 130 0 130 1.0 intronic rs11098004 COL25A1 AR NM_032518 exon7 c.21099-54T>G 0.840056 0.8492 0.832238 Uncertain 4_109767453_-->A 4 109767453 109767453 - A indel 7398.73 1/1 99 167 0 167 1.0 intronic rs5860952 COL25A1 AR NM_032518 exon8 c.22130+78insA 0.936102 0.9583 Uncertain 4_109769844_C->T 4 109769844 109769844 C T snp 482.77 0/1 99 40 19 21 0.53 intronic rs13130308 COL25A1 AR NM_032518 exon9 c.24669-70C>T 0.493011 0.62 0.432545 Uncertain 4_109769899_C->T 4 109769899 109769899 C T snp 1921.77 1/1 99 68 0 68 1.0 intronic rs13135591 COL25A1 AR NM_032518 exon9 c.24669-15C>T 0.784744 0.8522 0.764955 0.8236 0.8425 Uncertain 4_109782249_C->T 4 109782249 109782249 C T snp 316.78 1/1 24 11 0 11 1.0 intronic rs13133634 COL25A1 AR NM_032518 exon13 c.36882+122C>T 0.61242 0.9464 Uncertain 4_109790374_AAATA->- 4 109790374 109790378 AAATA - indel 1160.73 1/1 48 21 0 21 1.0 intronic rs142515007 COL25A1 AR NM_032518 exon16 c.45061+68_45061+72delAAATA Uncertain 4_109810593_T->G 4 109810593 109810593 T G snp 247.77 0/1 99 22 13 9 0.41 intronic rs199669668 COL25A1 AR NM_032518 exon18 c.65167+181T>G 0.0778754 0.1855 Uncertain 4_109811003_T->C 4 109811003 109811003 T C snp 2586.77 1/1 99 90 0 90 1.0 intronic rs12641411 COL25A1 AR NM_032518 exon19 c.65644+114T>C 0.659744 0.995 Uncertain 4_109817962_C->T 4 109817962 109817962 C T snp 1451.77 1/1 99 47 0 47 1.0 intronic rs10856995 COL25A1 AR NM_032518 exon20 c.72622+95C>T 0.708466 0.995 Uncertain 4_109820167_A->C 4 109820167 109820167 A C snp 803.77 1/1 60 26 0 26 1.0 intronic rs6853028 COL25A1 AR NM_032518 exon21 c.75064-142A>C 0.652556 0.995 Uncertain 4_109820195_C->A 4 109820195 109820195 C A snp 1298.77 1/1 93 45 0 45 1.0 intronic rs6853368 COL25A1 AR NM_032518 exon21 c.75064-114C>A 0.63119 0.9474 Uncertain 4_109820202_C->T 4 109820202 109820202 C T snp 1504.77 1/1 99 52 0 52 1.0 intronic rs6853372 COL25A1 AR NM_032518 exon21 c.75064-107C>T 0.63119 0.9474 Uncertain 4_109820446_T->C 4 109820446 109820446 T C snp 645.77 1/1 48 18 0 18 1.0 intronic rs6830868 COL25A1 AR NM_032518 exon21 c.75091+110T>C 0.698882 0.995 Uncertain 4_109820477_T->C 4 109820477 109820477 T C snp 237.8 1/1 21 7 0 7 1.0 intronic rs6533393 COL25A1 AR NM_032518 exon21 c.75091+141T>C 0.892772 0.998 Uncertain 4_109841889_-->A 4 109841889 109841889 - A indel 718.73 1/1 78 26 0 26 1.0 intronic rs397689777 COL25A1 AR NM_032518 exon24 c.96515+129insA 0.764377 0.9385 Uncertain 4_109842038_T->A 4 109842038 109842038 T A snp 488.77 1/1 36 16 0 16 1.0 intronic rs2030844 COL25A1 AR NM_032518 exon24 c.96515+278T>A 0.759185 0.997 Uncertain 4_109931456_C->- 4 109931456 109931456 C - indel 427.73 1/1 33 13 0 13 1.0 intronic rs3889125 COL25A1 AR NM_032518 exon30 c.186268-57delC 0.611022 0.6915 Uncertain 4_109931457_C->T 4 109931457 109931457 C T snp 275.8 1/1 21 11 0 11 1.0 intronic rs4995475 COL25A1 AR NM_032518 exon30 c.186268-56C>T 0.611022 0.6915 Uncertain 4_109969183_T->C 4 109969183 109969183 T C snp 256.8 1/1 21 7 0 7 1.0 intronic rs3096481 COL25A1 AR NM_032518 exon31 c.226037-2099T>C 0.583067 0.6587 Uncertain 4_109969337_G->T 4 109969337 109969337 G T snp 2029.77 1/1 99 82 0 82 1.0 intronic rs3108954 COL25A1 AR NM_032518 exon31 c.226037-1945G>T 0.583466 0.6587 0.468912 0.4537 0.6613 Uncertain 4_109969456_T->A 4 109969456 109969456 T A snp 517.77 1/1 39 16 0 16 1.0 intronic rs3096482 COL25A1 AR NM_032518 exon31 c.226037-1826T>A 0.582867 0.6567 Uncertain 4_109971414_T->A 4 109971414 109971414 T A snp 377.77 0/1 99 19 7 12 0.63 intronic rs1863292 COL25A1 AR NM_032518 exon31 c.226090+79T>A 0.249002 0.4504 Uncertain 4_110370867_C->T 4 110370867 110370867 C T snp 91.77 0/1 99 11 7 4 0.36 intronic rs13123618 SEC24B AU NM_001300813 exon2 c.15640+202C>T 0.667133 0.873 Uncertain 4_110370891_C->A 4 110370891 110370891 C A snp 42.77 0/1 33 3 1 2 0.67 intronic rs74544077 SEC24B AU NM_001300813 exon2 c.15640+226C>A 0.0335463 0.0804 Uncertain 4_110384047_-->CTTTT 4 110384047 110384047 - CTTTT indel 6280.73 1/1 99 83 0 83 1.0 intronic rs397762203 SEC24B AU NM_006323 exon2 c.29031-9insCTTTT 1 1 0.9998 1 Uncertain 4_110384938_T->C 4 110384938 110384938 T C snp 148.77 0/1 99 15 8 7 0.47 intronic rs10002595 SEC24B AU NM_006323 exon2 c.29775+138T>C 0.319089 0.127 Uncertain 4_110409978_G->A 4 110409978 110409978 G A snp 212.77 0/1 99 17 8 9 0.53 intronic rs6856291 SEC24B AU NM_006323 exon5 c.57457-2504G>A 0.169928 0.127 0.1758 0.1459 Uncertain 4_110442602_A->G 4 110442602 110442602 A G snp 844.77 0/1 99 81 44 37 0.46 exonic rs116940485 SEC24B AU synonymous SNV NM_006323 exon14 c.A2328G p.L776L 0.0335463 0.0804 0.000250 0.0156 0.0680 Uncertain 4_110445835_G->A 4 110445835 110445835 G A snp 345.77 0/1 99 25 14 11 0.44 intronic rs34224638 SEC24B AU NM_006323 exon15 c.90948-138G>A 0.169728 0.127 Uncertain 4_110446190_A->C 4 110446190 110446190 A C snp 332.77 0/1 99 18 8 10 0.56 intronic rs141724183 SEC24B AU NM_006323 exon15 c.91072+93A>C 0.0335463 0.0804 Uncertain 4_110446199_A->G 4 110446199 110446199 A G snp 113.77 0/1 99 10 6 4 0.4 intronic rs6812469 SEC24B AU NM_006323 exon15 c.91072+102A>G 0.315096 0.127 Uncertain 4_110446220_A->G 4 110446220 110446220 A G snp 38.77 0/1 67 5 3 2 0.4 intronic rs117698989 SEC24B AU NM_006323 exon15 c.91072+123A>G 0.0335463 0.0804 Uncertain 4_110446454_A->G 4 110446454 110446454 A G snp 339.78 1/1 27 10 0 10 1.0 intronic rs6812906 SEC24B AU NM_006323 exon16 c.91476-47A>G 0.717452 0.6954 0.679819 0.6287 0.7010 Uncertain 4_110448702_A->G 4 110448702 110448702 A G snp 484.77 0/1 99 31 10 21 0.68 intronic rs6827006 SEC24B AU NM_006323 exon18 c.93563+114A>G 0.315495 0.128 Uncertain 4_110451678_C->T 4 110451678 110451678 C T snp 289.77 0/1 99 32 19 13 0.41 intronic rs9994676 SEC24B AU NM_006323 exon19 c.96595+58C>T 0.320887 0.127 Uncertain 4_110454039_T->C 4 110454039 110454039 T C snp 361.77 0/1 99 26 13 13 0.5 intronic rs35940980 SEC24B AU NM_006323 exon21 c.98874+140T>C 0.169529 0.127 Uncertain 4_110580084_G->T 4 110580084 110580084 G T snp 242.8 1/1 21 8 0 8 1.0 intronic rs1543812 CCDC109B AU NM_017918 exon2 c.98673-82G>T 0.765375 0.7728 Uncertain 4_110581324_-->T 4 110581324 110581324 - T indel 1076.73 1/1 99 40 0 40 1.0 intronic rs34754720 CCDC109B AU NM_017918 exon3 c.99857-26insT 0.294529 0.4772 0.3451 0.4642 Uncertain 4_110581363_T->A 4 110581363 110581363 T A snp 3757.77 1/1 99 122 0 122 1.0 exonic rs4698744 CCDC109B AU nonsynonymous SNV NM_017918 exon3 c.T188A p.I63N 0.294928 0.4802 0.258870 0.4083 0.5588 0.59 T 0.0 P -0.971 T 0.0 T 0.001 T Pathogenic 4_110585626_G->A 4 110585626 110585626 G A snp 30.77 0/1 59 5 3 2 0.4 intronic CCDC109B AU NM_017918 exon4 c.104057+76G>A Uncertain 4_110661937_G->A 4 110661937 110661937 G A snp 1266.77 1/1 93 48 0 48 1.0 UTR3 rs551 CFI AR,AD 0.953674 1 0.9882 1 Uncertain 4_110670807_G->C 4 110670807 110670807 G C snp 1029.77 1/1 75 32 0 32 1.0 intronic rs7441380 CFI AR,AD NM_000204 exon5 c.8710+49G>C 0.969449 1 0.966164 0.9907 1 Uncertain 4_110678925_T->C 4 110678925 110678925 T C snp 826.77 1/1 63 30 0 30 1.0 exonic rs11098044 CFI AR,AD nonsynonymous SNV NM_000204 exon7 c.A898G p.T300A 0.966853 1 0.964976 0.9906 1 0.93 T 0.0 P -0.902 T 0.0 T 0.0 T Pathogenic 4_110678979_-->TTTAA 4 110678979 110678979 - TTTAA indel 1202.73 1/1 48 16 0 16 1.0 intronic rs146158558 CFI AR,AD NM_000204 exon7 c.16891+40insTTTAA 0.966653 1 0.952897 0.9893 1 Uncertain 4_110679002_G->T 4 110679002 110679002 G T snp 348.78 1/1 27 12 0 12 1.0 intronic rs7437142 CFI AR,AD NM_000204 exon7 c.16891+63G>T 0.966853 1 Uncertain 4_110679378_T->C 4 110679378 110679378 T C snp 56.74 1/1 6 2 0 2 1.0 intronic rs62324897 CFI AR,AD NM_000204 exon7 c.16891+439T>C 0.966853 1 Uncertain 4_110681618_C->T 4 110681618 110681618 C T snp 4201.77 1/1 99 143 0 143 1.0 intronic rs4382037 CFI AR,AD NM_000204 exon9 c.19630-60C>T 0.966853 1 Uncertain 4_110737389_T->C 4 110737389 110737389 T C snp 988.77 1/1 72 36 0 36 1.0 exonic rs2276326 GAR1 AU synonymous SNV NM_018983 exon2 c.T69C p.G23G 0.771166 0.9157 0.730970 0.7539 0.9266 Uncertain 4_110737549_G->A 4 110737549 110737549 G A snp 1371.77 1/1 96 54 0 54 1.0 intronic rs6828254 GAR1 AU NM_018983 exon2 c.214+15G>A 0.984824 1 0.979702 0.9938 1 Uncertain 4_110745425_G->A 4 110745425 110745425 G A snp 1158.77 1/1 84 39 0 39 1.0 intronic rs3188897 GAR1 AU NM_018983 exon7 c.8253-148G>A 0.389976 0.4881 Uncertain 4_110765361_T->G 4 110765361 110765361 T G snp 4297.77 1/1 99 155 0 155 1.0 UTR3 rs7681770 RRH AU 0.967652 1 0.965862 0.9893 1 Uncertain 4_110765372_A->G 4 110765372 110765372 A G snp 3558.77 1/1 99 128 2 126 0.98 UTR3 rs7657133 RRH AU 0.674521 0.5883 0.797632 0.7682 0.5799 Uncertain 4_110773067_G->A 4 110773067 110773067 G A snp 4985.77 1/1 99 187 2 185 0.99 exonic rs4698797 LRIT3 AR nonsynonymous SNV NM_198506 exon2 c.G524A p.S175N 0.471845 0.4901 0.588699 0.5661 0.4661 0.57 T 1.0 P -1.004 T 0.964 D 0.817 D Pathogenic 4_110786290_C->T 4 110786290 110786290 C T snp 4936.77 1/1 99 182 0 182 1.0 intronic rs7679048 LRIT3 AR NM_198506 exon3 c.19439-2506C>T 0.578075 0.6329 Uncertain 4_110786517_A->G 4 110786517 110786517 A G snp 1038.77 1/1 78 30 0 30 1.0 intronic rs7679303 LRIT3 AR NM_198506 exon3 c.19439-2279A>G 0.559904 0.6329 Uncertain 4_110790911_A->T 4 110790911 110790911 A T snp 4693.77 1/1 99 169 0 169 1.0 exonic rs764205 LRIT3 AR nonsynonymous SNV NM_198506 exon4 c.A1006T p.M336L 0.469649 0.4901 0.574273 0.5669 0.4940 0.3 T 0.0 P -0.918 T 0.375 T 0.097 T Pathogenic 4_110865271_T->G 4 110865271 110865271 T G snp 1525.77 1/1 99 53 0 53 1.0 intronic rs10470911 EGF AU NM_001178130 exon4 c.30734+46T>G 0.321885 0.2738 0.330437 0.3398 0.2779 Uncertain 4_110866178_A->C 4 110866178 110866178 A C snp 1114.77 1/1 81 33 0 33 1.0 intronic rs4698755 EGF AU NM_001178130 exon5 c.31737-50A>C 0.435304 0.505 0.379422 0.3819 0.5197 Uncertain 4_110866442_G->A 4 110866442 110866442 G A snp 2469.77 1/1 99 85 2 83 0.98 intronic rs4698756 EGF AU NM_001178130 exon5 c.31940+11G>A 0.435304 0.505 0.381286 0.3882 0.5232 Uncertain 4_110866508_C->T 4 110866508 110866508 C T snp 1086.77 1/1 81 30 0 30 1.0 intronic rs4698800 EGF AU NM_001178130 exon5 c.31940+77C>T 0.33766 0.2738 Uncertain 4_110880364_T->C 4 110880364 110880364 T C snp 2405.77 1/1 99 85 0 85 1.0 intronic rs2067004 EGF AU NM_001178130 exon6 c.45976-103T>C 0.419529 0.505 Uncertain 4_110882996_T->C 4 110882996 110882996 T C snp 3383.77 1/1 99 123 1 122 0.99 intronic rs11568942 EGF AU NM_001178130 exon8 c.48527-22T>C 0.122005 0.1786 0.068507 0.0591 0.1829 Uncertain 4_110885868_T->C 4 110885868 110885868 T C snp 54.74 1/1 6 2 0 2 1.0 intronic rs2190907 EGF AU NM_001178130 exon10 c.51202+175T>C 0.639776 0.6984 Uncertain 4_110901198_G->A 4 110901198 110901198 G A snp 4892.77 1/1 99 179 1 178 0.99 exonic rs2237051 EGF AU nonsynonymous SNV NM_001963 exon14 c.G2124A p.M708I 0.617812 0.6726 0.525142 0.4658 0.6886 0.46 T 0.000 P -0.944 T 0.0 T 0.0 T Pathogenic 4_110904502_G->A 4 110904502 110904502 G A snp 749.77 1/1 57 20 0 20 1.0 intronic rs6825106 EGF AU NM_001178130 exon16 c.70086-75G>A 0.379792 0.5774 Uncertain 4_110914427_A->T 4 110914427 110914427 A T snp 1193.77 1/1 87 46 0 46 1.0 exonic rs4698803 EGF AU nonsynonymous SNV NM_001963 exon19 c.A2759T p.E920V 0.920527 1 0.848916 0.8407 0.9993 0.44 T 0.0 P -0.902 T 0.0 T 0.0 T Pathogenic 4_111026520_A->G 4 111026520 111026520 A G snp 182.9 1/1 15 5 0 5 1.0 intronic rs3733623 ELOVL6 AU NM_024090 exon3 c.54159-132A>G 0.407348 0.6915 Uncertain 4_111398208_A->G 4 111398208 111398208 A G snp 978.77 1/1 72 34 0 34 1.0 exonic rs10004516 ENPEP AU nonsynonymous SNV NM_001977 exon1 c.A638G p.Q213R 0.847644 0.7877 0.877961 0.8650 0.8068 0.19 T 0.0 P -1.091 T 0.154 T 0.124 T Pathogenic 4_111409705_T->C 4 111409705 111409705 T C snp 4996.77 1/1 99 196 1 195 0.99 exonic rs1126483 ENPEP AU nonsynonymous SNV NM_001977 exon2 c.T653C p.V218A 0.509984 0.6488 0.509995 0.5771 0.6977 1 T 0.000 P -1.003 T 0.0 T 0.001 T Pathogenic 4_111409925_A->G 4 111409925 111409925 A G snp 389.77 1/1 30 12 0 12 1.0 intronic rs3796891 ENPEP AU NM_001977 exon2 c.12268+87A>G 0.224641 0.254 Uncertain 4_111437103_C->T 4 111437103 111437103 C T snp 696.77 1/1 51 24 0 24 1.0 intronic rs2348432 ENPEP AU NM_001977 exon8 c.39028+505C>T 0.861621 0.7887 Uncertain 4_111437127_A->C 4 111437127 111437127 A C snp 317.78 1/1 24 15 0 15 1.0 intronic rs2348433 ENPEP AU NM_001977 exon8 c.39028+529A>C 0.605032 0.6548 Uncertain 4_111454153_A->G 4 111454153 111454153 A G snp 1580.77 1/1 99 58 0 58 1.0 intronic rs671841 ENPEP AU NM_001977 exon11 c.54863+1720A>G 0.987021 1 Uncertain 4_111542234_C->T 4 111542234 111542234 C T snp 7758.77 1/1 99 250 0 250 1.0 intronic rs74772088 PITX2 AU,AD NM_153426 exon2 c.3039-85C>T 0.00579073 0.0278 0.0022 0.04 Uncertain 4_111553741_G->T 4 111553741 111553741 G T snp 932.77 1/1 69 29 0 29 1.0 intronic rs72554076 PITX2 AU,AD NM_153426 exon3 c.14356+105G>T 0.159145 0.3175 Uncertain 4_111781650_C->T 4 111781650 111781650 C T snp 535.77 1/1 39 19 0 19 1.0 intergenic rs10213399 PITX2 AU,AD 0.875998 0.9901 Uncertain 4_113066831_G->A 4 113066831 113066831 G A snp 223.84 1/1 18 8 0 8 1.0 exonic rs10002700 C4orf32 AU nonsynonymous SNV NM_152400 exon1 c.G95A p.G32E 0.999201 1 0.997170 0.9961 1 1 T 0.0 P -0.990 T 0.0 T 0.0 T Pathogenic 4_113107830_T->- 4 113107830 113107830 T - indel 82.73 0/1 99 45 34 11 0.24 intronic rs371585740 C4orf32 AU NM_152400 exon2 c.41112-18delT 0.280230 0.4595 0.4605 Uncertain 4_113153407_C->A 4 113153407 113153407 C A snp 37.77 0/1 66 4 2 2 0.5 intronic rs114400546 AP1AR AU NM_001128426 exon1 c.83+77C>A 0.0503195 0.1548 Uncertain 4_113179077_C->T 4 113179077 113179077 C T snp 143.03 1/1 12 6 0 6 1.0 intronic rs4834247 AP1AR AU NM_001128426 exon4 c.25706+124C>T 0.647364 0.753 Uncertain 4_113179080_A->T 4 113179080 113179080 A T snp 141.03 1/1 12 6 0 6 1.0 intronic rs4834248 AP1AR AU NM_001128426 exon4 c.25706+127A>T 0.647364 0.753 Uncertain 4_113199075_A->G 4 113199075 113199075 A G snp 3236.77 1/1 99 98 0 98 1.0 exonic rs701759 TIFA AU synonymous SNV NM_052864 exon2 c.T498C p.Y166Y 0.65016 0.751 0.629863 0.5586 0.7400 Uncertain 4_113199691_C->T 4 113199691 113199691 C T snp 944.77 1/1 69 26 0 26 1.0 intronic rs6834298 TIFA AU NM_052864 exon1 c.573+101C>T 0.64976 0.751 Uncertain 4_113199695_A->G 4 113199695 113199695 A G snp 454.77 0/1 99 25 11 14 0.56 intronic TIFA AU NM_052864 exon1 c.573+105A>G Uncertain 4_113344685_C->T 4 113344685 113344685 C T snp 444.77 0/1 99 30 15 15 0.5 intronic rs1989924 ALPK1 AU NM_025144 exon6 c.46166-414C>T 0.54373 0.7163 Uncertain 4_113344826_A->G 4 113344826 113344826 A G snp 1402.77 0/1 99 132 66 66 0.5 intronic rs1989925 ALPK1 AU NM_025144 exon6 c.46166-273A>G 0.644169 0.7907 Uncertain 4_113344925_C->T 4 113344925 113344925 C T snp 661.77 0/1 99 70 47 23 0.33 intronic rs1989926 ALPK1 AU NM_025144 exon6 c.46166-174C>T 0.54373 0.7163 0.4812 0.7392 Uncertain 4_113346665_A->G 4 113346665 113346665 A G snp 139.03 1/1 12 4 0 4 1.0 intronic rs916867 ALPK1 AU NM_025144 exon7 c.47887-155A>G 0.644768 0.7917 Uncertain 4_113346714_T->C 4 113346714 113346714 T C snp 833.77 1/1 63 22 0 22 1.0 intronic rs916868 ALPK1 AU NM_025144 exon7 c.47887-106T>C 0.559704 0.7192 Uncertain 4_113347496_A->G 4 113347496 113347496 A G snp 704.77 1/1 51 24 0 24 1.0 intronic rs9994944 ALPK1 AU NM_025144 exon8 c.48689-126A>G 0.60643 0.7202 0.6252 0.7542 Uncertain 4_113347609_-->T 4 113347609 113347609 - T indel 1232.73 1/1 68 59 3 56 0.95 intronic rs35182774 ALPK1 AU NM_025144 exon8 c.48689-13insT 0.370407 0.5397 0.273838 0.3470 0.5700 Uncertain 4_113349020_C->G 4 113349020 113349020 C G snp 463.77 1/1 36 13 0 13 1.0 intronic rs4834277 ALPK1 AU NM_025144 exon9 c.49888+199C>G 0.547923 0.7192 Uncertain 4_113352397_G->A 4 113352397 113352397 G A snp 1401.77 0/1 99 130 74 56 0.43 exonic rs2074388 ALPK1 AU nonsynonymous SNV NM_001253884 exon10 c.G1460A p.G487D 0.627396 0.6369 0.653852 0.6220 0.6508 0.29 T 0.0 P -1.097 T 0.996 D 0.801 D Pathogenic 4_113352628_A->G 4 113352628 113352628 A G snp 1108.77 0/1 99 122 74 48 0.39 exonic rs13148353 ALPK1 AU nonsynonymous SNV NM_001253884 exon10 c.A1691G p.H564R 0.658546 0.7014 0.680225 0.6495 0.7159 0.44 T 0.0 P -1.094 T 0.0 T 0.0 T Pathogenic 4_113352899_G->A 4 113352899 113352899 G A snp 1597.77 0/1 99 132 61 71 0.54 exonic rs2074379 ALPK1 AU nonsynonymous SNV NM_001253884 exon10 c.G1962A p.M654I 0.626797 0.6359 0.653775 0.6225 0.6528 0.92 T 0.0 P -1.057 T 0.0 T 0.002 T Pathogenic 4_113353285_T->C 4 113353285 113353285 T C snp 2505.77 0/1 99 211 110 101 0.48 exonic rs11726117 ALPK1 AU nonsynonymous SNV NM_001253884 exon10 c.T2348C p.M783T 0.658546 0.7014 0.680686 0.6497 0.7143 1 T 0.0 P -1.047 T 0.0 T 0.0 T Pathogenic 4_113353523_TTC->- 4 113353523 113353525 TTC - indel 3173.72 0/1 99 125 57 68 0.54 exonic rs150577225 ALPK1 AU nonframeshift deletion NM_001253884 exon10 c.2586_2588del p.862_863del 0.0309505 0.0575 0.006948 0.0192 0.0544 Uncertain 4_113353842_A->C 4 113353842 113353842 A C snp 368.77 0/1 99 26 14 12 0.46 intronic rs6841595 ALPK1 AU NM_025144 exon11 c.54804+105A>C 0.66234 0.7014 Uncertain 4_113356259_C->T 4 113356259 113356259 C T snp 460.77 0/1 99 39 22 17 0.44 intronic rs3815071 ALPK1 AU NM_025144 exon12 c.57370-44C>T 0.313299 0.494 0.272613 0.3297 0.4769 Uncertain 4_113359703_A->G 4 113359703 113359703 A G snp 2393.77 0/1 99 230 132 98 0.43 exonic rs231247 ALPK1 AU synonymous SNV NM_001253884 exon12 c.A3018G p.R1006R 0.661342 0.7004 0.679994 0.6553 0.7173 Uncertain 4_113359883_A->T 4 113359883 113359883 A T snp 785.77 0/1 99 42 19 23 0.55 intronic rs231248 ALPK1 AU NM_025144 exon13 c.60869+81A>T 0.300519 0.4286 Uncertain 4_113436044_T->G 4 113436044 113436044 T G snp 1910.77 1/1 99 57 0 57 1.0 exonic rs901474 NEUROG2 AU synonymous SNV NM_024019 exon2 c.A588C p.G196G 0.957867 1 0.899458 0.9002 0.9989 Uncertain 4_113460927_C->A 4 113460927 113460927 C A snp 1159.77 0/1 99 97 49 48 0.49 intronic rs2306775 ZGRF1 AU NM_018392 exon1 c.143+82C>A 0.22524 0.3929 Uncertain 4_113462459_T->- 4 113462459 113462459 T - indel 93.73 0/1 99 18 10 8 0.44 intronic rs201056012 ZGRF1 AU NM_018392 exon4 c.1722+35delT 0.0203674 0.0317 0.013843 0.0131 0.0378 Uncertain 4_113483446_C->A 4 113483446 113483446 C A snp 231.77 0/1 99 11 4 7 0.64 intronic rs6838559 ZGRF1 AU NM_018392 exon11 c.22824-80C>A 0.438698 0.4435 Uncertain 4_113483843_T->C 4 113483843 113483843 T C snp 54.74 1/1 6 2 0 2 1.0 intronic rs6816676 ZGRF1 AU NM_018392 exon11 c.22939+202T>C 0.766374 0.9415 Uncertain 4_113527072_A->G 4 113527072 113527072 A G snp 199.77 0/1 99 14 6 8 0.57 intronic rs62316615 ZGRF1 AU NM_018392 exon20 c.66461-91A>G 0.0986422 0.2202 Uncertain 4_113530455_C->T 4 113530455 113530455 C T snp 358.77 0/1 99 22 7 15 0.68 intronic rs570821357 ZGRF1 AU NM_018392 exon21 c.69832-79C>T 0.00179712 0.0069 Uncertain 4_113533796_T->C 4 113533796 113533796 T C snp 76.77 0/1 99 15 10 5 0.33 intronic rs9993534 ZGRF1 AU NM_018392 exon22 c.73042+52T>C 0.222045 0.3938 0.135008 0.1772 0.4360 Uncertain 4_113539969_T->C 4 113539969 113539969 T C snp 2285.77 0/1 99 155 70 85 0.55 exonic rs7696816 ZGRF1 AU nonsynonymous SNV NM_018392 exon6 c.A1229G p.N410S 0.417732 0.4117 0.390589 0.4360 0.3961 1 T 0.0 P -0.997 T 0.0 T 0.0 T Pathogenic 4_113545165_T->G 4 113545165 113545165 T G snp 119.78 0/1 27 5 1 4 0.8 intronic rs6853745 ZGRF1 AU NM_018392 exon25 c.84330+133T>G 0.417332 0.4097 Uncertain 4_113549989_G->A 4 113549989 113549989 G A snp 288.77 0/1 99 25 12 13 0.52 intronic rs12054518 ZGRF1 AU NM_018392 exon26 c.92383-3096G>A 0.416134 0.4067 0.4580 0.4154 Uncertain 4_113552891_G->A 4 113552891 113552891 G A snp 139.03 1/1 12 4 0 4 1.0 intronic rs7676819 ZGRF1 AU NM_018392 exon26 c.92383-194G>A 0.722843 0.9415 Uncertain 4_113554385_A->T 4 113554385 113554385 A T snp 337.77 0/1 99 23 11 12 0.52 UTR5 rs13104310 ZGRF1 AU 0.416733 0.4097 0.395395 Uncertain 4_113565835_G->A 4 113565835 113565835 G A snp 490.77 0/1 99 36 17 19 0.53 exonic rs79383654 LARP7 AR nonsynonymous SNV NM_016648 exon2 c.G10A p.E4K 0.0716853 0.1806 0.030861 0.0627 0.2013 0.09 T 0.947 P -1.071 T 0.598 T 0.19 P CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000117485.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 4_113568544_G->A 4 113568544 113568544 G A snp 1544.77 0/1 99 151 80 71 0.47 exonic rs62317770 LARP7 AR nonsynonymous SNV NM_016648 exon7 c.G836A p.R279Q 0.0698882 0.1796 0.028998 0.0603 0.1939 0.66 T 0.0 P -1.064 T 0.394 T 0.053 T CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000117487.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 4_113568743_-->TTTTAATTAATTAGT 4 113568743 113568743 - TTTTAATTAATTAGT indel 484.74 0/1 25 11 1 10 0.91 intronic rs70958470 LARP7 AR NM_001267039 exon9 c.3080+38insTTTTAATTAATTAGT 0.0262 0.0165 Uncertain 4_113569135_G->T 4 113569135 113569135 G T snp 1169.77 0/1 99 130 76 54 0.42 intronic rs13136737 LARP7 AR NM_001267039 exon10 c.3365+145G>T 0.375 0.3581 0.405437 0.4743 0.3632 Uncertain 4_113578609_C->T 4 113578609 113578609 C T snp 44.77 0/1 33 3 1 2 0.67 UTR3 rs1129065 LARP7 AR 0.25639 0.496 Uncertain 4_114081490_A->G 4 114081490 114081490 A G snp 290.77 0/1 99 36 22 14 0.39 intronic rs436855 ANK2 AD NM_001148 exon2 c.124687-14081A>G 0.344848 0.4167 0.4284 0.4231 Uncertain 4_114117472_C->T 4 114117472 114117472 C T snp 1378.77 0/1 99 136 79 57 0.42 intronic rs2285710 ANK2 AD NM_001148 exon3 c.146639-51C>T 0.179113 0.2282 Uncertain 4_114117474_-->T 4 114117474 114117474 - T indel 1684.73 0/1 99 139 80 59 0.42 intronic rs3214164 ANK2 AD NM_001148 exon3 c.146639-49insT 0.179113 0.2282 0.158761 0.1617 0.2423 Uncertain 4_114117723_G->A 4 114117723 114117723 G A snp 124.03 1/1 12 4 0 4 1.0 intronic rs2285709 ANK2 AD NM_001148 exon3 c.146738+101G>A 0.173522 0.245 Uncertain 4_114209691_C->T 4 114209691 114209691 C T snp 1437.77 0/1 99 119 56 63 0.53 intronic rs29357 ANK2 AD NM_001148 exon20 c.238758+49C>T 0.0790735 0.0625 0.078361 0.1062 0.0643 Uncertain 4_114209732_T->C 4 114209732 114209732 T C snp 1141.77 0/1 99 73 31 42 0.58 intronic rs29356 ANK2 AD NM_001148 exon20 c.238758+90T>C 0.177716 0.1687 Uncertain 4_114209763_T->C 4 114209763 114209763 T C snp 693.77 0/1 99 43 20 23 0.53 intronic rs29355 ANK2 AD NM_001148 exon20 c.238758+121T>C 0.115415 0.0625 Uncertain 4_114213776_A->G 4 114213776 114213776 A G snp 271.77 0/1 99 23 13 10 0.43 intronic rs29340 ANK2 AD NM_001148 exon21 c.242786+106A>G 0.0684904 0.2609 Uncertain 4_114257201_C->T 4 114257201 114257201 C T snp 352.77 0/1 99 35 20 15 0.43 exonic rs3736575 ANK2 AD synonymous SNV NM_001148 exon30 c.C3579T p.R1193R 0.260383 0.1161 0.251038 0.1460 0.1204 1.000 P -1.064 T CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000123639.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Likely benign 4_114260492_G->T 4 114260492 114260492 G T snp 1175.77 0/1 99 114 62 52 0.46 intronic rs2272231 ANK2 AD NM_001148 exon32 c.289594+14G>T 0.228634 0.1151 0.219437 0.1377 0.1201 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000123640.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 4_114260538_C->T 4 114260538 114260538 C T snp 766.77 0/1 99 67 38 29 0.43 intronic rs2272230 ANK2 AD NM_001148 exon32 c.289594+60C>T 0.230032 0.1151 Uncertain 4_114260641_G->A 4 114260641 114260641 G A snp 54.74 1/1 6 2 0 2 1.0 intronic rs2272229 ANK2 AD NM_001148 exon32 c.289594+163G>A 0.286741 0.1151 Uncertain 4_114267023_G->A 4 114267023 114267023 G A snp 5265.77 1/1 99 197 1 196 0.99 intronic rs9968405 ANK2 AD NM_001148 exon35 c.296171-32G>A 0.9998 1 0.999769 0.9998 1 Uncertain 4_114269552_G->A 4 114269552 114269552 G A snp 1012.77 0/1 99 119 71 48 0.4 intronic rs2272235 ANK2 AD NM_001148 exon36 c.298580+88G>A 0.284744 0.1151 Uncertain 4_114276884_A->G 4 114276884 114276884 A G snp 1251.77 0/1 99 103 53 50 0.49 exonic rs3733615 ANK2 AD synonymous SNV NM_001148 exon38 c.A7110G p.Q2370Q 0.284944 0.1151 0.294095 0.1902 0.1205 Uncertain 4_114278277_C->T 4 114278277 114278277 C T snp 2901.77 0/1 99 227 110 117 0.52 exonic rs3733617 ANK2 AD nonsynonymous SNV NM_001148 exon38 c.C8503T p.P2835S 0.187899 0.1141 0.146240 0.0900 0.1203 0.0 P -0.942 T 0.002 T 0.003 T CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000171791.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 ID=CM121499;DIS=Long QT syndrome, drug-associated;TAG=DP;PUB=22100668 DP Pathogenic 4_114286358_TG->- 4 114286358 114286359 TG - indel 1667.73 ./1 99 121 2 119 0.98 intronic rs367606815 ANK2 AD NM_001148 exon41 c.315454+20_315454+21delTG 0.76877 0.8919 0.5109 0.5464 Uncertain 4_114286357_-->TGTG 4 114286357 114286357 - TGTG indel 1667.73 ./1 99 121 2 119 0.98 intronic rs374183503 ANK2 AD NM_001148 exon41 c.315454+19insTGTG 0.0311 0.0261 Uncertain 4_114294308_T->C 4 114294308 114294308 T C snp 2125.77 0/1 99 181 90 91 0.5 exonic rs2293324 ANK2 AD synonymous SNV NM_001148 exon44 c.T11673C p.H3891H 0.313299 0.1359 0.320621 0.1974 0.1361 1.000 P -1.052 T CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000123647.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Likely benign 4_114309839_C->T 4 114309839 114309839 C T snp 338.77 0/1 99 23 11 12 0.52 intergenic rs6533681 ANK2 AD 0.626997 0.4147 0.637008 0.5810 0.4314 Uncertain 4_114472984_T->C 4 114472984 114472984 T C snp 39.77 0/1 68 4 2 2 0.5 intronic rs2285704 CAMK2D AU NM_172128 exon14 c.97519-202T>C 0.376997 0.3819 Uncertain 4_114473149_T->C 4 114473149 114473149 T C snp 578.77 0/1 99 55 30 25 0.45 intronic rs2285705 CAMK2D AU NM_172128 exon14 c.97519-37T>C 0.0279553 0.1151 0.002845 0.0108 0.1084 Uncertain 4_114530524_A->G 4 114530524 114530524 A G snp 65.77 0/1 94 13 10 3 0.23 intronic rs117035412 CAMK2D AU NM_172128 exon15 c.154695+162A>G 0.024361 0.1121 Uncertain 4_114823191_A->G 4 114823191 114823191 A G snp 446.77 1/1 36 13 0 13 1.0 UTR3 rs2374215 ARSJ AU 0.563299 0.6052 Uncertain 4_114823862_C->T 4 114823862 114823862 C T snp 1853.77 0/1 99 123 45 78 0.63 exonic rs76514597 ARSJ AU synonymous SNV NM_024590 exon2 c.G1368A p.L456L 0.00359425 0.0179 0.000164 0.0013 0.0167 Uncertain 4_115544714_A->G 4 115544714 115544714 A G snp 7668.77 1/1 99 250 0 250 1.0 exonic rs6851610 UGT8 AU synonymous SNV NM_001128174 exon2 c.A678G p.P226P 0.982428 1 0.974089 0.9927 0.9997 Uncertain 4_115585029_C->G 4 115585029 115585029 C G snp 206.84 1/1 18 6 0 6 1.0 intronic rs11731984 UGT8 AU NM_003360 exon2 c.41114-121C>G 0.719249 0.9425 Uncertain 4_115586696_A->G 4 115586696 115586696 A G snp 245.8 1/1 21 7 0 7 1.0 intronic rs4833463 UGT8 AU NM_003360 exon3 c.42799-139A>G 0.864417 1 Uncertain 4_115589159_C->T 4 115589159 115589159 C T snp 1571.77 1/1 99 46 0 46 1.0 intronic rs6831964 UGT8 AU NM_003360 exon4 c.45204-81C>T 0.879992 1 Uncertain 4_115589302_A->G 4 115589302 115589302 A G snp 5127.77 1/1 99 185 0 185 1.0 exonic rs11098261 UGT8 AU nonsynonymous SNV NM_001128174 exon5 c.A1104G p.I368M 0.989217 1 0.984315 0.9958 1 0.2 T 0.000 P -1.040 T 0.007 T 0.064 T Pathogenic 4_118976318_C->T 4 118976318 118976318 C T snp 341.78 1/1 27 9 0 9 1.0 intronic rs7687849 NDST3 AU NM_004784 exon2 c.981+272C>T 0.739417 0.8056 Uncertain 4_119035948_-->C 4 119035948 119035948 - C indel 7700.73 1/1 99 241 0 241 1.0 intronic rs397828339 NDST3 AU NM_004784 exon4 c.60895-12insC 0.840601 0.9053 0.8032 Uncertain 4_119064668_G->A 4 119064668 119064668 G A snp 133.03 1/1 12 4 0 4 1.0 intronic rs3749506 NDST3 AU NM_004784 exon6 c.89645-42G>A 0.619409 0.621 0.7401 0.6661 Uncertain 4_119161619_A->G 4 119161619 119161619 A G snp 1055.77 1/1 78 35 0 35 1.0 intronic rs641962 NDST3 AU NM_004784 exon11 c.186613-59A>G 0.802316 0.7937 Uncertain 4_119174641_T->- 4 119174641 119174641 T - indel 109.87 1/1 15 5 0 5 1.0 intronic rs397830164 NDST3 AU NM_004784 exon13 c.199588-12delT 0.809505 0.7976 0.8804 0.8010 Uncertain 4_119176703_A->G 4 119176703 119176703 A G snp 2124.77 1/1 99 80 0 80 1.0 intronic rs7684275 NDST3 AU NM_004784 exon14 c.201682-44A>G 0.455671 0.5764 0.384669 0.4429 0.5827 Uncertain 4_119216054_T->C 4 119216054 119216054 T C snp 1697.77 1/1 99 63 0 63 1.0 intronic rs3828500 PRSS12 AR NM_003619 exon3 c.13003-39T>C 0.386182 0.6171 0.295325 0.3249 0.6114 Uncertain 4_119217114_C->G 4 119217114 119217114 C G snp 2377.77 1/1 99 73 0 73 1.0 intronic rs788665 PRSS12 AR NM_003619 exon4 c.13921+103C>G 0.976837 1 Uncertain 4_119237348_T->C 4 119237348 119237348 T C snp 5389.77 1/1 99 198 0 198 1.0 exonic rs2292597 PRSS12 AR synonymous SNV NM_003619 exon6 c.A1281G p.Q427Q 0.545327 0.5843 0.523912 0.5547 0.5917 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000118068.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 4_119239788_A->G 4 119239788 119239788 A G snp 1338.77 1/1 99 46 0 46 1.0 intronic rs972813 PRSS12 AR NM_003619 exon9 c.36621+77A>G 0.349241 0.5288 Uncertain 4_119239900_C->A 4 119239900 119239900 C A snp 44.74 1/1 6 2 0 2 1.0 intronic rs705838 PRSS12 AR NM_003619 exon9 c.36621+189C>A 0.804912 0.7927 Uncertain 4_119273712_C->G 4 119273712 119273712 C G snp 4494.77 1/1 99 156 1 155 0.99 exonic rs13119545 PRSS12 AR nonsynonymous SNV NM_003619 exon1 c.G164C p.R55T 0.492212 0.4712 0.550121 0.6543 0.5990 0.42 T 0.0 P -0.949 T 0.02 T 0.007 T CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000118069.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 4_119388641_G->A 4 119388641 119388641 G A snp 34.77 0/1 63 13 9 4 0.31 intergenic rs148771485 PRSS12 AR 0.033147 0.0357 Uncertain 4_119401424_T->A 4 119401424 119401424 T A snp 1316.77 0/1 99 101 43 58 0.57 intergenic rs7659489 PRSS12 AR 0.343251 0.3929 Uncertain 4_119401616_T->C 4 119401616 119401616 T C snp 1790.77 0/1 99 130 64 66 0.51 intergenic rs115540404 PRSS12 AR 0.193291 0.2361 Uncertain 4_119409225_C->T 4 119409225 119409225 C T snp 165.77 0/1 99 83 56 27 0.33 intergenic rs200730203 PRSS12 AR Uncertain 4_119409830_A->G 4 119409830 119409830 A G snp 305.77 0/1 99 30 16 14 0.47 intergenic rs3766656 PRSS12 AR 0.36901 0.2996 Uncertain 4_119414257_AGG->- 4 119414257 119414259 AGG - indel 475.73 0/1 99 19 9 10 0.53 intergenic rs113100030 PRSS12 AR 0.326877 0.5407 Uncertain 4_119414828_G->A 4 119414828 119414828 G A snp 803.77 0/1 99 100 64 36 0.36 intergenic rs145087150 PRSS12 AR 0.608027 0.7192 Uncertain 4_119428222_T->A 4 119428222 119428222 T A snp 56.74 1/1 6 2 0 2 1.0 intergenic rs10461200 PRSS12 AR 0.358626 0.5228 Uncertain 4_119434892_G->A 4 119434892 119434892 G A snp 469.77 0/1 99 218 136 82 0.38 intergenic rs2728429 PRSS12 AR 0.1995 0.2310 Uncertain 4_119435061_C->T 4 119435061 119435061 C T snp 320.77 0/1 99 164 133 31 0.19 intergenic rs71627763 PRSS12 AR 0.4115 0.5035 Uncertain 4_119435862_A->G 4 119435862 119435862 A G snp 832.77 1/1 78 115 0 115 1.0 intergenic rs2728435 PRSS12 AR Uncertain 4_119436130_G->A 4 119436130 119436130 G A snp 1124.77 0/1 99 177 109 68 0.38 intergenic rs2728180 PRSS12 AR 0.409744 0.5258 Uncertain 4_119436589_G->T 4 119436589 119436589 G T snp 76.77 0/1 99 12 7 5 0.42 upstream rs2728184 CEP170P1 AU Uncertain 4_119444456_G->A 4 119444456 119444456 G A snp 1768.77 0/1 99 153 73 80 0.52 ncRNA_intronic rs28720014 CEP170P1 AU 0.461861 0.6379 Uncertain 4_119475430_G->A 4 119475430 119475430 G A snp 271.77 0/1 99 41 27 14 0.34 downstream rs2787272 CEP170P1 AU 0.538339 0.5337 Uncertain 4_119609039_G->A 4 119609039 119609039 G A snp 3370.77 1/1 99 125 0 125 1.0 intronic rs9968326 METTL14 AU NM_020961 exon2 c.2388-38G>A 0.98123 1 0.979471 0.9943 1 Uncertain 4_119613045_T->G 4 119613045 119613045 T G snp 442.77 0/1 99 30 13 17 0.57 intronic rs6821350 METTL14 AU NM_020961 exon5 c.6446-90T>G 0.227436 0.1716 Uncertain 4_119615543_T->C 4 119615543 119615543 T C snp 74.77 0/1 99 10 7 3 0.3 intronic rs13111664 METTL14 AU NM_020961 exon6 c.8901-47T>C 0.227236 0.1706 0.294846 0.3154 0.2004 Uncertain 4_119625000_A->G 4 119625000 119625000 A G snp 113.78 0/1 25 5 1 4 0.8 intronic rs3733517 METTL14 AU NM_020961 exon9 c.18400-89A>G 0.227436 0.1716 Uncertain 4_119625273_G->A 4 119625273 119625273 G A snp 818.77 1/1 60 30 0 30 1.0 intronic rs298995 METTL14 AU NM_020961 exon9 c.18517+67G>A 0.629193 0.6855 Uncertain 4_119652354_T->C 4 119652354 119652354 T C snp 201.8 0/1 21 7 1 6 0.86 intronic rs11722833 SEC24D AR NM_014822 exon3 c.7801-116T>C 0.301318 0.4276 Uncertain 4_119653822_G->C 4 119653822 119653822 G C snp 472.77 0/1 99 34 19 15 0.44 intronic rs2046779 SEC24D AR NM_014822 exon4 c.9218-65G>C 0.227636 0.1736 Uncertain 4_119659284_T->A 4 119659284 119659284 T A snp 262.77 0/1 99 23 11 12 0.52 intronic rs7653962 SEC24D AR NM_014822 exon5 c.14746-131T>A 0.227436 0.1736 Uncertain 4_119689472_G->C 4 119689472 119689472 G C snp 1456.77 0/1 99 124 66 58 0.47 splicing rs117971741 SEC24D AR NM_014822 exon15 c.44797+6G>C 0.0115815 0.0526 0.000077 0.0037 0.0480 Pathogenic 4_119718988_C->T 4 119718988 119718988 C T snp 1908.77 0/1 99 157 77 80 0.51 intronic rs11730993 SEC24D AR NM_014822 exon16 c.74296+23C>T 0.298922 0.4365 0.231124 0.3352 0.4426 Uncertain 4_119726949_G->A 4 119726949 119726949 G A snp 1151.77 0/1 99 74 29 45 0.61 intronic rs2303513 SEC24D AR NM_014822 exon17 c.82328-48G>A 0.249201 0.3214 0.220052 0.3040 0.3084 Uncertain 4_119736598_C->T 4 119736598 119736598 C T snp 193.77 0/1 99 19 10 9 0.47 intronic rs6843524 SEC24D AR NM_014822 exon19 c.91936-7C>T 0.854832 0.6994 0.898201 0.8717 0.6953 Uncertain 4_119736796_A->C 4 119736796 119736796 A C snp 1334.77 0/1 99 125 68 57 0.46 exonic rs2389688 SEC24D AR synonymous SNV NM_014822 exon5 c.T483G p.P161P 0.436901 0.5506 0.396586 0.4624 0.5328 Uncertain 4_119737860_G->A 4 119737860 119737860 G A snp 1175.77 0/1 99 100 49 51 0.51 intronic rs3775840 SEC24D AR NM_014822 exon20 c.93749-558G>A 0.39976 0.5496 0.4576 0.5154 Uncertain 4_119737885_T->C 4 119737885 119737885 T C snp 1141.77 0/1 99 113 64 49 0.43 intronic rs3775839 SEC24D AR NM_014822 exon20 c.93749-533T>C 0.372204 0.5496 0.4568 0.5152 Uncertain 4_119944611_G->T 4 119944611 119944611 G T snp 1629.77 0/1 99 122 52 70 0.57 exonic rs1459058 SYNPO2 AU synonymous SNV NM_001128933 exon2 c.G132T p.G44G 0.411941 0.4524 0.407043 0.4661 0.4637 Uncertain 4_119947962_AAG->- 4 119947962 119947964 AAG - indel 13944.7 1/1 99 248 0 248 1.0 exonic rs70944826 SYNPO2 AU nonframeshift deletion NM_001128933 exon3 c.438_440del p.146_147del 0.355431 0.496 0.337486 0.3796 0.5131 Uncertain 4_119947985_G->C 4 119947985 119947985 G C snp 2775.77 0/1 99 232 115 117 0.5 exonic rs12645298 SYNPO2 AU nonsynonymous SNV NM_001128933 exon3 c.G461C p.G154A 0.257188 0.4196 0.212902 0.2782 0.4487 0.16 T 0.000 P -0.950 T 0.884 T 0.164 P Pathogenic 4_119950975_-->T 4 119950975 119950975 - T indel 615.73 ./1 99 37 2 35 0.95 intronic rs111780874 SYNPO2 AU NM_133477 exon4 c.140808-24insT 0.460264 0.4266 0.4547 0.4347 Uncertain 4_119950975_-->TT 4 119950975 119950975 - TT indel 615.73 ./1 99 37 2 35 0.95 intronic rs111780874 SYNPO2 AU NM_133477 exon4 c.140808-24insTT 0.224042 0.3433 0.2208 0.3385 Uncertain 4_119951647_A->G 4 119951647 119951647 A G snp 8364.77 1/1 99 250 0 250 1.0 exonic rs7698598 SYNPO2 AU nonsynonymous SNV NM_001128933 exon4 c.A1717G p.T573A 0.843251 0.873 0.852837 0.8485 0.8716 0.0 P -1.021 T 0.0 T 0.0 T Pathogenic 4_120071926_T->C 4 120071926 120071926 T C snp 519.77 1/1 39 16 0 16 1.0 intronic rs6853794 MYOZ2 AD NM_016599 exon3 c.14346-100T>C 0.966454 0.995 Uncertain 4_120072233_G->C 4 120072233 120072233 G C snp 310.77 0/1 99 27 15 12 0.44 intronic rs6828875 MYOZ2 AD NM_016599 exon3 c.14516+37G>C 0.54353 0.6141 0.587756 0.6479 0.5947 Uncertain 4_120072238_A->G 4 120072238 120072238 A G snp 218.77 0/1 99 21 12 9 0.43 intronic rs6828349 MYOZ2 AD NM_016599 exon3 c.14516+42A>G 0.544129 0.6141 0.588000 0.6482 0.5954 Uncertain 4_120072275_G->C 4 120072275 120072275 G C snp 77.77 0/1 99 6 3 3 0.5 intronic rs6829055 MYOZ2 AD NM_016599 exon3 c.14516+79G>C 0.54353 0.6141 Uncertain 4_120079159_A->G 4 120079159 120079159 A G snp 855.77 0/1 99 65 28 37 0.57 intronic rs11721566 MYOZ2 AD NM_016599 exon4 c.21496-17A>G 0.546326 0.628 0.589343 0.6494 0.6183 CLINSIG=non-pathogenic;CLNDBN=not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000024480.2;CLNDSDB=MedGen;CLNDSDBID=CN221809 Uncertain 4_120079387_G->A 4 120079387 120079387 G A snp 561.77 0/1 99 45 24 21 0.47 intronic rs11729978 MYOZ2 AD NM_016599 exon4 c.21626+81G>A 0.309105 0.3998 Uncertain 4_120106982_T->C 4 120106982 120106982 T C snp 56.74 1/1 6 2 0 2 1.0 intronic rs7661020 MYOZ2 AD NM_016599 exon6 c.49440-138T>C 0.286941 0.5317 Uncertain 4_120187611_C->T 4 120187611 120187611 C T snp 262.77 0/1 99 18 9 9 0.5 intronic rs11098499 USP53 AU NM_019050 exon12 c.27560-863C>T 0.269369 0.3899 Uncertain 4_120194718_-->T 4 120194718 120194718 - T indel 2472.73 1/1 99 95 2 93 0.98 intronic rs35610634 USP53 AU NM_019050 exon16 c.33872-68insT 0.950479 0.9792 Uncertain 4_120212426_T->- 4 120212426 120212426 T - indel 202.73 0/1 99 24 12 12 0.5 intronic rs34076547 USP53 AU NM_019050 exon17 c.51502+10delT 0.374002 0.4325 0.4283 0.4504 Uncertain 4_120212514_T->C 4 120212514 120212514 T C snp 56.74 1/1 6 2 0 2 1.0 intronic rs11731675 USP53 AU NM_019050 exon17 c.51502+98T>C 0.374601 0.4325 Uncertain 4_120212521_G->A 4 120212521 120212521 G A snp 56.74 1/1 6 2 0 2 1.0 intronic rs10006850 USP53 AU NM_019050 exon17 c.51502+105G>A 0.753195 0.7599 Uncertain 4_120214030_T->G 4 120214030 120214030 T G snp 3287.77 0/1 99 249 122 127 0.51 exonic rs3749591 USP53 AU nonsynonymous SNV NM_019050 exon18 c.T2886G p.S962R 0.244808 0.3859 0.259293 0.2760 0.3907 0.06 T 0.0 P -0.981 T 0.501 P 0.08 P Pathogenic 4_120220085_-->AAAC 4 120220085 120220085 - AAAC indel 916.73 0/1 99 42 23 19 0.45 intronic rs111948904 C4orf3 AU NM_001170330 exon1 c.1+151insAAAC 0.745208 0.7609 Uncertain 4_120240131_T->C 4 120240131 120240131 T C snp 1017.77 0/1 99 93 48 45 0.48 UTR3 rs2964 FABP2 AU 0.332867 0.3948 0.347320 Uncertain 4_120240238_T->C 4 120240238 120240238 T C snp 806.77 0/1 99 84 50 34 0.4 exonic rs1511025 FABP2 AU synonymous SNV NM_000134 exon4 c.A357G p.V119V 0.333067 0.3948 0.344130 0.3134 0.4037 Uncertain 4_120241849_A->G 4 120241849 120241849 A G snp 399.77 0/1 99 31 15 16 0.52 exonic rs4834770 FABP2 AU synonymous SNV NM_000134 exon2 c.T216C p.N72N 0.585863 0.6508 0.564769 0.5679 0.6435 Uncertain 4_120241902_T->C 4 120241902 120241902 T C snp 538.77 0/1 99 63 40 23 0.37 exonic rs1799883 FABP2 AU nonsynonymous SNV NM_000134 exon2 c.A163G p.T55A 0.746605 0.754 0.748731 0.7261 0.7360 0.06 T 0.0 P -1.094 T CLINSIG=non-pathogenic;CLNDBN=FATTY_ACID-BINDING_PROTEIN\x2c_INTESTINAL\x2c_POLYMORPHISM_OF;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000017958.1;CLNDSDB=.;CLNDSDBID=. ID=CM950433;DIS=Insulin resistance, association with;TAG=DFP;PUB=7883976 DFP Pathogenic 4_120242145_C->T 4 120242145 120242145 C T snp 193.8 0/1 21 7 1 6 0.86 intronic rs10006259 FABP2 AU NM_000134 exon3 c.1802+148C>T 0.332867 0.3948 Uncertain 4_120242164_A->C 4 120242164 120242164 A C snp 141.03 1/1 12 4 0 4 1.0 intronic rs6823963 FABP2 AU NM_000134 exon3 c.1802+167A>C 0.586262 0.6518 Uncertain 4_120243035_G->A 4 120243035 120243035 G A snp 34.77 0/1 31 3 1 2 0.67 intronic rs714899 FABP2 AU NM_000134 exon4 c.2995-155G>A 0.31889 0.3948 Uncertain 4_120243337_A->- 4 120243337 120243337 A - indel 3017.73 0/1 99 160 75 85 0.53 upstream rs2282689 FABP2 AU 0.586062 0.6518 Uncertain 4_120243389_-->CTACT 4 120243389 120243389 - CTACT indel 1714.73 0/1 99 48 18 30 0.63 upstream rs3052221 FABP2 AU 0.583267 0.6508 Uncertain 4_120243417_-->TC 4 120243417 120243417 - TC indel 388.73 0/1 99 19 8 11 0.58 upstream rs5861424 FABP2 AU 0.581869 0.6458 Uncertain 4_120243419_A->T 4 120243419 120243419 A T snp 222.77 0/1 99 15 8 7 0.47 upstream rs1973598 FABP2 AU 0.585264 0.6518 Uncertain 4_120265322_A->G 4 120265322 120265322 A G snp 34.77 0/1 63 29 24 5 0.17 intergenic rs10006524 FABP2 AU Uncertain 4_120314664_T->C 4 120314664 120314664 T C snp 1221.77 0/1 99 114 59 55 0.48 intergenic rs13127114 FABP2 AU 0.281949 0.3879 Uncertain 4_120314741_C->A 4 120314741 120314741 C A snp 1072.77 0/1 99 100 54 46 0.46 intergenic rs13151285 FABP2 AU 0.281749 0.3879 Uncertain 4_120314881_A->G 4 120314881 120314881 A G snp 95.77 0/1 99 15 10 5 0.33 intergenic rs4309825 FABP2 AU 0.28155 0.3879 Uncertain 4_120316075_A->G 4 120316075 120316075 A G snp 1279.77 0/1 99 111 63 48 0.43 intergenic rs11098513 FABP2 AU 0.284744 0.3879 Uncertain 4_120423719_C->T 4 120423719 120423719 C T snp 308.77 0/1 99 30 18 12 0.4 intronic rs3733523 PDE5A AU NM_001083 exon3 c.3980-16C>T 0.269369 0.3929 0.266226 0.2653 0.3906 Uncertain 4_120423729_T->C 4 120423729 120423729 T C snp 394.77 0/1 99 37 22 15 0.41 intronic rs3733524 PDE5A AU NM_001083 exon3 c.3980-6T>C 0.238219 0.3929 0.232467 0.2560 0.3907 Uncertain 4_120423935_G->C 4 120423935 120423935 G C snp 186.77 0/1 99 25 15 10 0.4 intronic rs12510138 PDE5A AU NM_001083 exon3 c.4055+125G>C 0.269169 0.3919 Uncertain 4_120425777_A->C 4 120425777 120425777 A C snp 456.77 0/1 99 49 30 19 0.39 intronic rs3775841 PDE5A AU NM_001083 exon4 c.5999+23A>C 0.275958 0.3978 0.245808 0.2710 0.3944 Uncertain 4_120446869_A->- 4 120446869 120446869 A - indel 847.73 0/1 99 69 21 48 0.7 intronic rs3832310 PDE5A AU NM_001083 exon10 c.27095+19delA 0.494209 0.494 0.5470 0.5583 Uncertain 4_120460306_T->C 4 120460306 120460306 T C snp 336.77 0/1 99 28 14 14 0.5 intronic rs1552095 PDE5A AU NM_001083 exon11 c.40419+132T>C 0.265775 0.3938 Uncertain 4_120463856_A->C 4 120463856 120463856 A C snp 2408.77 1/1 99 78 0 78 1.0 intronic rs2622497 PDE5A AU NM_001083 exon12 c.44034+67A>C 0.972644 1 Uncertain 4_120474859_A->G 4 120474859 120474859 A G snp 874.77 0/1 99 64 28 36 0.56 exonic rs11947234 PDE5A AU synonymous SNV NM_033430 exon8 c.T1116C p.Y372Y 0.265775 0.3929 0.259803 0.2656 0.3900 Uncertain 4_120481431_T->C 4 120481431 120481431 T C snp 454.77 0/1 99 41 18 23 0.56 intronic rs34308924 PDE5A AU NM_001083 exon15 c.61695-19T>C 0.270567 0.3929 0.268036 0.2779 0.3982 Uncertain 4_120486402_A->G 4 120486402 120486402 A G snp 307.77 0/1 99 21 7 14 0.67 intronic rs55825515 PDE5A AU NM_001083 exon17 c.66720-73A>G 0.264577 0.3929 Uncertain 4_120528327_G->A 4 120528327 120528327 G A snp 3467.77 1/1 99 122 0 122 1.0 exonic rs3733526 PDE5A AU nonsynonymous SNV NM_033430 exon2 c.C152T p.A51V 0.810104 0.8968 0.777180 0.8226 0.8952 0.3 T 0.0 P -1.054 T 0.0 T 0.002 T Pathogenic 4_120528525_TCT->- 4 120528525 120528527 TCT - indel 641.73 0/1 99 34 18 16 0.47 intronic rs10536068 PDE5A AU NM_001083 exon20 c.108697+73_108697+75delTCT 0.501597 0.495 Uncertain 4_120549862_T->C 4 120549862 120549862 T C snp 1228.77 0/1 99 154 96 58 0.38 intergenic rs187593210 PDE5A AU 0.01877 0.004 0.000692 0.0214 0.0059 Uncertain 4_120550060_C->- 4 120550060 120550060 C - indel 1470.73 1/1 99 47 0 47 1.0 intergenic rs11342908 PDE5A AU 0.978035 1 0.9996 1 Uncertain 4_120550125_-->GGC 4 120550125 120550125 - GGC indel 960.73 0/1 99 52 21 31 0.6 intergenic rs10639733 PDE5A AU 0.6373 0.3864 Uncertain 4_120550142_GCA->- 4 120550142 120550144 GCA - indel 1836.73 1/1 99 49 0 49 1.0 intergenic rs140532689 PDE5A AU 0.4540 0.6852 Uncertain 4_120983087_A->- 4 120983087 120983087 A - indel 599.73 1/1 57 19 0 19 1.0 intronic rs75370084 MAD2L1 AU NM_002358 exon3 c.1857-42delA 0.798123 0.8671 0.763137 0.7653 0.9009 Uncertain 4_120983259_T->C 4 120983259 120983259 T C snp 7678.77 1/1 99 250 0 250 1.0 intronic rs2908989 MAD2L1 AU NM_002358 exon3 c.1978+9T>C 0.798123 0.8671 0.763032 0.7518 0.8954 Uncertain 4_121631375_-->AT 4 121631375 121631375 - AT indel 415.73 0/1 99 18 8 10 0.56 intronic rs71597093 PRDM5 AR NM_018699 exon2 c.15198-88insAT Uncertain 4_121698199_G->A 4 121698199 121698199 G A snp 277.77 0/1 99 21 12 9 0.43 intronic rs3804163 PRDM5 AR NM_018699 exon4 c.82077-143G>A 0.147165 0.1885 Uncertain 4_121702270_T->C 4 121702270 121702270 T C snp 768.77 0/1 99 61 34 27 0.44 intronic rs3761721 PRDM5 AR NM_018699 exon5 c.86032-27T>C 0.136981 0.1885 0.198524 0.2113 0.2323 Uncertain 4_121702634_T->C 4 121702634 121702634 T C snp 274.77 0/1 99 18 7 11 0.61 intronic rs56402218 PRDM5 AR NM_018699 exon5 c.86193+176T>C 0.146765 0.1885 Uncertain 4_121706201_A->G 4 121706201 121706201 A G snp 1570.77 0/1 99 159 85 74 0.47 exonic rs12499000 PRDM5 AR synonymous SNV NM_018699 exon11 c.T1234C p.L412L 0.13738 0.1895 0.199831 0.2115 0.2321 Uncertain 4_121719584_-->A 4 121719584 121719584 - A indel 652.73 0/1 99 59 25 34 0.58 splicing rs35363618 PRDM5 AR NM_018699 exon7 c.103314+5insA 0.146565 0.1885 0.210337 0.2143 0.2331 Pathogenic 4_121720771_T->C 4 121720771 121720771 T C snp 263.77 0/1 99 19 9 10 0.53 intronic rs1511309 PRDM5 AR NM_018699 exon8 c.104550-44T>C 0.273562 0.3502 0.277046 0.3060 0.3995 Uncertain 4_121720941_C->G 4 121720941 121720941 C G snp 296.77 0/1 99 29 16 13 0.45 intronic rs4833676 PRDM5 AR NM_018699 exon8 c.104635+41C>G 0.229633 0.3264 0.240941 0.2951 0.3784 Uncertain 4_121720960_C->G 4 121720960 121720960 C G snp 336.77 0/1 99 27 15 12 0.44 intronic rs4833677 PRDM5 AR NM_018699 exon8 c.104635+60C>G 0.229633 0.3264 0.244620 Uncertain 4_121737767_G->A 4 121737767 121737767 G A snp 485.77 0/1 99 26 12 14 0.54 intronic rs2136998 PRDM5 AR NM_018699 exon10 c.121464+38G>A 0.395767 0.4881 0.370444 0.4017 0.4853 Uncertain 4_121738049_T->C 4 121738049 121738049 T C snp 2523.77 0/1 99 226 119 107 0.47 exonic rs343192 PRDM5 AR synonymous SNV NM_018699 exon6 c.A681G p.L227L 0.27496 0.3562 0.281255 0.2912 0.3917 Uncertain 4_121738182_C->T 4 121738182 121738182 C T snp 263.77 0/1 99 20 10 10 0.5 intronic rs237212 PRDM5 AR NM_018699 exon11 c.121814+103C>T 0.273762 0.3502 Uncertain 4_121828519_C->T 4 121828519 121828519 C T snp 322.77 0/1 99 22 10 12 0.55 intronic rs1901135 PRDM5 AR NM_018699 exon15 c.212363-109C>T 0.574281 0.6042 Uncertain 4_121957559_G->A 4 121957559 121957559 G A snp 2662.77 0/1 99 249 141 108 0.43 exonic rs34766411 NDNF AU synonymous SNV NM_024574 exon4 c.C1567T p.L523L 0.246406 0.2351 0.202599 0.2477 0.2338 Uncertain 4_121957734_T->C 4 121957734 121957734 T C snp 7236.77 1/1 99 250 0 250 1.0 exonic rs1397645 NDNF AU synonymous SNV NM_024574 exon4 c.A1392G p.S464S 0.821486 0.9732 0.804321 0.8669 0.9732 Uncertain 4_121958091_T->G 4 121958091 121958091 T G snp 3151.77 0/1 99 250 127 123 0.49 exonic rs3733558 NDNF AU synonymous SNV NM_024574 exon4 c.A1035C p.L345L 0.429113 0.6458 0.470783 0.5472 0.6525 Uncertain 4_121958187_A->G 4 121958187 121958187 A G snp 3224.61 0/1 99 250 130 120 0.48 exonic rs3822230 NDNF AU synonymous SNV NM_024574 exon4 c.T939C p.D313D 0.425319 0.6458 0.466861 0.5454 0.6535 Uncertain 4_121958691_T->C 4 121958691 121958691 T C snp 2723.77 0/1 99 227 107 120 0.53 exonic rs3733559 NDNF AU synonymous SNV NM_024574 exon4 c.A435G p.L145L 0.22504 0.2351 0.178180 0.2421 0.2342 Uncertain 4_121958697_G->A 4 121958697 121958697 G A snp 2605.77 0/1 99 220 113 107 0.49 exonic rs3733560 NDNF AU synonymous SNV NM_024574 exon4 c.C429T p.S143S 0.399161 0.5962 0.448827 0.5152 0.5879 Uncertain 4_121960955_G->A 4 121960955 121960955 G A snp 458.77 0/1 99 27 9 18 0.67 intronic rs17353430 NDNF AU NM_024574 exon2 c.3666-129G>A 0.227636 0.2351 Uncertain 4_121961031_A->G 4 121961031 121961031 A G snp 1080.77 0/1 99 65 22 43 0.66 intronic rs3775914 NDNF AU NM_024574 exon2 c.3666-53A>G 0.227636 0.2351 Uncertain 4_121961279_A->T 4 121961279 121961279 A T snp 122.77 0/1 99 10 4 6 0.6 intronic rs3775915 NDNF AU NM_024574 exon2 c.3791+70A>T 0.227835 0.2351 Uncertain 4_121966807_C->T 4 121966807 121966807 C T snp 3347.77 1/1 99 126 0 126 1.0 exonic rs2276959 NDNF AU synonymous SNV NM_024574 exon2 c.G186A p.K62K 0.657748 0.881 0.670148 0.7904 0.8848 Uncertain 4_122137662_T->G 4 122137662 122137662 T G snp 1392.77 1/1 99 53 0 53 1.0 intronic rs7663440 TNIP3 AU NM_001128843 exon12 c.83853+7T>G 0.877995 0.8542 0.8949 0.8737 Uncertain 4_122148787_A->G 4 122148787 122148787 A G snp 135.03 1/1 12 4 0 4 1.0 upstream rs2044970 TNIP3 AU 0.916134 0.9623 Uncertain 4_122250654_G->A 4 122250654 122250654 G A snp 2709.77 0/1 99 249 141 108 0.43 exonic rs79300690 QRFPR AU nonsynonymous SNV NM_198179 exon6 c.C1111T p.R371W 0.0369409 0.1052 0.015378 0.0298 0.1157 0.18 T 0.998 P -0.984 T 0.66 T 0.153 P Pathogenic 4_122255609_C->G 4 122255609 122255609 C G snp 1707.77 0/1 99 140 69 71 0.51 intronic rs77030133 QRFPR AU NM_198179 exon3 c.3743+1398C>G 0.0363419 0.1052 Uncertain 4_122255702_C->T 4 122255702 122255702 C T snp 2050.77 0/1 99 196 105 91 0.46 intronic rs79265873 QRFPR AU NM_198179 exon3 c.3743+1491C>T 0.0341454 0.1052 Uncertain 4_122255895_A->G 4 122255895 122255895 A G snp 439.77 0/1 99 27 13 14 0.52 intronic rs56351803 QRFPR AU NM_198179 exon3 c.3743+1684A>G 0.238019 0.1726 Uncertain 4_122257942_A->C 4 122257942 122257942 A C snp 2902.77 1/1 99 102 0 102 1.0 intronic rs4558890 QRFPR AU NM_198179 exon4 c.7493-19A>C 0.996006 1 0.986006 0.9880 1 Uncertain 4_122257950_A->G 4 122257950 122257950 A G snp 1275.77 0/1 99 116 65 51 0.44 intronic rs2302309 QRFPR AU NM_198179 exon4 c.7493-11A>G 0.276358 0.2688 0.323927 0.3521 0.2838 Uncertain 4_122258063_A->G 4 122258063 122258063 A G snp 1832.77 0/1 99 150 73 77 0.51 intronic rs4490481 QRFPR AU NM_198179 exon4 c.7555+40A>G 0.478834 0.7272 0.387206 0.4779 0.7118 Uncertain 4_122261475_T->C 4 122261475 122261475 T C snp 399.77 0/1 99 30 17 13 0.43 intronic rs2276957 QRFPR AU NM_198179 exon5 c.11138-131T>C 0.281749 0.5238 0.2116 0.5585 Uncertain 4_122261495_C->A 4 122261495 122261495 C A snp 717.77 0/1 99 51 22 29 0.57 intronic rs2276956 QRFPR AU NM_198179 exon5 c.11138-111C>A 0.276757 0.2688 0.4205 0.3404 Uncertain 4_122261596_A->T 4 122261596 122261596 A T snp 1780.77 0/1 99 145 68 77 0.53 intronic rs12651331 QRFPR AU NM_198179 exon5 c.11138-10A>T 0.0453275 0.1052 0.038290 0.0540 0.1180 Uncertain 4_122261785_C->T 4 122261785 122261785 C T snp 1016.77 0/1 99 102 55 47 0.46 intronic rs2276955 QRFPR AU NM_198179 exon5 c.11297+20C>T 0.276757 0.2688 0.323466 0.3572 0.2910 Uncertain 4_122593633_-->T 4 122593633 122593633 - T indel 4220.73 0/1 99 250 131 119 0.48 intronic rs3214942 ANXA5 AD NM_001154 exon5 c.4065-54insT 0.0197684 0.0278 Uncertain 4_122599447_G->A 4 122599447 122599447 G A snp 447.77 0/1 99 40 23 17 0.42 intronic rs13109053 ANXA5 AD NM_001154 exon7 c.9947-122G>A 0.176318 0.1032 Uncertain 4_122607686_T->C 4 122607686 122607686 T C snp 114.77 0/1 99 8 4 4 0.5 intronic rs13120425 ANXA5 AD NM_001154 exon11 c.17905+159T>C 0.476238 0.7272 Uncertain 4_122617493_T->C 4 122617493 122617493 T C snp 577.77 1/1 45 16 0 16 1.0 intronic rs2306413 ANXA5 AD NM_001154 exon12 c.28113-242T>C 0.381789 0.3006 Uncertain 4_122617569_C->A 4 122617569 122617569 C A snp 738.77 0/1 99 67 40 27 0.4 intronic rs79593864 ANXA5 AD NM_001154 exon12 c.28113-166C>A 0.0261581 0.0278 Uncertain 4_122617601_A->G 4 122617601 122617601 A G snp 1077.77 0/1 99 105 62 43 0.41 intronic rs2306414 ANXA5 AD NM_001154 exon12 c.28113-134A>G 0.0670927 0.0317 Uncertain 4_122617631_C->G 4 122617631 122617631 C G snp 1341.77 0/1 99 125 70 55 0.44 intronic rs2306415 ANXA5 AD NM_001154 exon12 c.28113-104C>G 0.189297 0.1944 Uncertain 4_122617688_T->C 4 122617688 122617688 T C snp 1668.77 0/1 99 158 85 73 0.46 intronic rs2306416 ANXA5 AD NM_001154 exon12 c.28113-47T>C 0.192093 0.1944 0.180763 0.1470 0.1764 Uncertain 4_122681305_T->C 4 122681305 122681305 T C snp 110.77 0/1 99 8 4 4 0.5 UTR3 rs4075713 TMEM155 AU 0.0992412 0.0188 Uncertain 4_122681373_T->C 4 122681373 122681373 T C snp 2666.77 1/1 99 87 0 87 1.0 UTR3 rs4342205 TMEM155 AU 0.900958 0.8938 Uncertain 4_122683007_G->A 4 122683007 122683007 G A snp 3866.77 1/1 99 136 0 136 1.0 exonic rs4370153 TMEM155 AU nonsynonymous SNV NM_152399 exon4 c.C32T p.A11V 0.886981 0.881 0.870906 0.8685 0.8788 0 D 0.0 P -0.906 T 0.0 T 0.0 T Pathogenic 4_122687238_A->G 4 122687238 122687238 A G snp 545.77 0/1 99 68 44 24 0.35 ncRNA_exonic rs13108419 PP12613 AU 0.293331 0.4206 0.3888 0.3881 Uncertain 4_122687491_G->C 4 122687491 122687491 G C snp 404.77 1/1 30 16 0 16 1.0 ncRNA_exonic rs4833772 PP12613 AU 0.600639 0.6587 0.5911 0.6716 0 D -0.953 T Uncertain 4_122722674_G->T 4 122722674 122722674 G T snp 2903.77 0/1 99 235 111 124 0.53 intronic rs150025980 EXOSC9 AU NM_001034194 exon1 c.66+29G>T 0.00678914 0.0169 0.003152 0.0031 0.0286 Uncertain 4_122722693_C->G 4 122722693 122722693 C G snp 2031.77 0/1 99 208 119 89 0.43 intronic rs3811742 EXOSC9 AU NM_001034194 exon1 c.66+48C>G 0.303315 0.4276 0.297863 0.3668 0.4275 Uncertain 4_122723106_G->A 4 122723106 122723106 G A snp 1491.77 0/1 99 124 64 60 0.48 intronic rs67772833 EXOSC9 AU NM_001034194 exon2 c.497+30G>A 0.526757 0.4335 0.492157 0.4052 0.4397 Uncertain 4_122726073_C->T 4 122726073 122726073 C T snp 37.77 0/1 66 6 4 2 0.33 intronic rs6836544 EXOSC9 AU NM_001034194 exon5 c.3335+159C>T 0.128794 0.0169 Uncertain 4_122728965_A->T 4 122728965 122728965 A T snp 61.77 0/1 90 10 7 3 0.3 intronic rs9998785 EXOSC9 AU NM_001034194 exon6 c.6198+188A>T 0.276558 0.4276 Uncertain 4_122732899_A->G 4 122732899 122732899 A G snp 94.28 1/1 9 3 0 3 1.0 intronic rs4295291 EXOSC9 AU NM_001034194 exon8 c.10247+73A>G 0.813299 0.8611 Uncertain 4_122735142_A->G 4 122735142 122735142 A G snp 856.77 0/1 99 86 46 40 0.47 exonic rs1803183 EXOSC9 AU nonsynonymous SNV NM_001034194 exon10 c.A1096G p.I366V 0.0816693 0.0169 0.090650 0.0376 0.0285 0.29 T 0.0 P -0.969 T 0.0 T 0.0 T Pathogenic 4_122735225_-->TTA 4 122735225 122735225 - TTA indel 1159.73 1/1 63 22 0 22 1.0 intronic rs141260260 EXOSC9 AU NM_001034194 exon10 c.12623+23insTTA 0.776482 0.7495 0.6543 Uncertain 4_122737965_G->C 4 122737965 122737965 G C snp 307.77 0/1 99 31 16 15 0.48 exonic rs1051881 EXOSC9 AU nonsynonymous SNV NM_005033 exon12 c.G1274C p.S425T 0.129792 0.0179 0.141912 0.0781 0.0426 0.62 T 1.000 P -0.931 T 0.241 T 0.157 T Pathogenic 4_122739183_C->G 4 122739183 122739183 C G snp 1210.77 0/1 99 92 41 51 0.55 intronic rs3217772 CCNA2 AU NM_001237 exon2 c.406-15C>G 0.276757 0.4286 0.278026 0.3623 0.4242 Uncertain 4_122740162_C->T 4 122740162 122740162 C T snp 123.77 0/1 99 21 15 6 0.29 intronic rs2071486 CCNA2 AU NM_001237 exon3 c.1276+94C>T 0.402356 0.2212 Uncertain 4_122740454_T->G 4 122740454 122740454 T G snp 329.77 0/1 99 20 9 11 0.55 intronic rs1396080 CCNA2 AU NM_001237 exon4 c.1734-72T>G 0.402556 0.2212 Uncertain 4_122741807_C->T 4 122741807 122741807 C T snp 2099.77 0/1 99 219 126 93 0.42 exonic rs769243 CCNA2 AU synonymous SNV NM_001237 exon4 c.G684A p.Q228Q 0.127396 0.0169 0.143472 0.0521 0.0283 Uncertain 4_122742217_T->C 4 122742217 122742217 T C snp 4298.77 1/1 99 161 0 161 1.0 exonic rs769242 CCNA2 AU nonsynonymous SNV NM_001237 exon3 c.A487G p.I163V 0.96865 0.9494 0.969086 0.9629 0.9411 0.37 T 0.0 P -0.995 T 0.0 T 0.0 T Pathogenic 4_122749436_G->T 4 122749436 122749436 G T snp 2925.77 1/1 99 87 1 86 0.99 intronic rs2706793 BBS7 AR NM_018190 exon1 c.129+12G>T 0.812101 0.8611 0.775385 0.7648 0.8599 Uncertain 4_122749541_C->T 4 122749541 122749541 C T snp 2927.77 0/1 99 250 126 124 0.5 intronic rs1507994 BBS7 AR NM_018190 exon2 c.261-15C>T 0.376597 0.2202 0.406274 0.3539 0.2291 Uncertain 4_122756274_G->T 4 122756274 122756274 G T snp 1592.77 0/1 99 103 38 65 0.63 intronic rs55803709 BBS7 AR NM_018190 exon5 c.7003-24G>T 0.0814696 0.0169 0.090497 0.0376 0.0282 Uncertain 4_122760968_G->A 4 122760968 122760968 G A snp 164.77 0/1 99 23 16 7 0.3 intronic rs12510839 BBS7 AR NM_018190 exon6 c.11556+117G>A 0.276358 0.4266 Uncertain 4_122769965_TCTT->- 4 122769965 122769968 TCTT - indel 1849.73 0/1 99 60 29 31 0.52 intronic rs111713350 BBS7 AR NM_018190 exon10 c.20703-33_20703-30delTCTT 0.128395 0.0169 0.185513 0.0526 0.0285 Uncertain 4_122776859_C->A 4 122776859 122776859 C A snp 43.77 0/1 72 4 2 2 0.5 intronic rs76863221 BBS7 AR NM_018190 exon13 c.27421+143C>A 0.128195 0.0169 Uncertain 4_122791601_G->C 4 122791601 122791601 G C snp 788.77 0/1 99 55 28 27 0.49 UTR5 rs2271176 BBS7 AR 0.301318 0.4266 Uncertain 4_122824052_C->T 4 122824052 122824052 C T snp 2197.77 0/1 99 187 93 94 0.5 exonic rs11732666 TRPC3 AD synonymous SNV NM_001130698 exon9 c.G2418A p.R806R 0.279353 0.4137 0.264263 0.3327 0.4197 Uncertain 4_122828794_T->G 4 122828794 122828794 T G snp 77.77 0/1 99 10 7 3 0.3 intronic rs951974 TRPC3 AD NM_001130698 exon6 c.27832+72T>G 0.257588 0.4147 Uncertain 4_122831281_C->T 4 122831281 122831281 C T snp 566.77 0/1 99 49 23 26 0.53 intronic rs1507993 TRPC3 AD NM_001130698 exon7 c.30418-27C>T 0.340256 0.4157 0.320929 0.3456 0.4263 Uncertain 4_122833314_C->T 4 122833314 122833314 C T snp 583.77 0/1 99 41 17 24 0.59 intronic rs906496 TRPC3 AD NM_001130698 exon8 c.32358+66C>T 0.322484 0.3899 Uncertain 4_122833379_T->C 4 122833379 122833379 T C snp 78.77 0/1 57 5 2 3 0.6 intronic rs906495 TRPC3 AD NM_001130698 exon8 c.32358+131T>C 0.322484 0.3899 Uncertain 4_122833401_T->C 4 122833401 122833401 T C snp 54.74 1/1 6 2 0 2 1.0 intronic rs906494 TRPC3 AD NM_001130698 exon8 c.32358+153T>C 0.274161 0.3889 Uncertain 4_122872719_G->A 4 122872719 122872719 G A snp 1080.77 1/1 78 43 0 43 1.0 exonic rs1396082 TRPC3 AD synonymous SNV NM_001130698 exon1 c.C117T p.G39G 0.378994 0.5179 0.5793 0.5381 Uncertain 4_122999452_T->C 4 122999452 122999452 T C snp 56.74 1/1 6 2 0 2 1.0 intergenic rs3108402 TRPC3 AD 0.749002 0.6825 Uncertain 4_123108762_G->A 4 123108762 123108762 G A snp 267.8 1/1 21 8 0 8 1.0 intronic rs7670081 KIAA1109 AU NM_015312 exon6 c.16865+95G>A 0.958666 1 Uncertain 4_123111354_C->A 4 123111354 123111354 C A snp 216.77 0/1 99 14 7 7 0.5 intronic rs68107102 KIAA1109 AU NM_015312 exon8 c.19432+120C>A 0.271166 0.3601 Uncertain 4_123122147_TAACA->- 4 123122147 123122151 TAACA - indel 8798.73 0/1 99 250 131 119 0.48 intronic rs77249793 KIAA1109 AU NM_015312 exon13 c.30361-16_30361-12delTAACA 0.150359 0.3095 0.059866 0.1193 0.3033 Uncertain 4_123130886_A->G 4 123130886 123130886 A G snp 1213.77 0/1 99 87 39 48 0.55 intronic rs7656479 KIAA1109 AU NM_015312 exon17 c.39170-86A>G 0.272963 0.3591 Uncertain 4_123140739_G->C 4 123140739 123140739 G C snp 4534.77 1/1 99 159 0 159 1.0 intronic rs6534345 KIAA1109 AU NM_015312 exon19 c.48920+17G>C 0.966054 1 0.968017 0.9903 1 Uncertain 4_123145751_T->A 4 123145751 123145751 T A snp 2399.77 0/1 99 159 60 99 0.62 exonic rs7658836 KIAA1109 AU synonymous SNV NM_015312 exon21 c.T2712A p.P904P 0.273762 0.3562 0.232613 0.3132 0.3688 1.000 P -0.987 T Likely benign 4_123176566_C->T 4 123176566 123176566 C T snp 479.77 0/1 99 29 12 17 0.59 intronic rs45500303 KIAA1109 AU NM_015312 exon38 c.84636+128C>T 0.271965 0.3562 Uncertain 4_123185682_C->A 4 123185682 123185682 C A snp 644.77 1/1 48 20 0 20 1.0 intronic rs7664976 KIAA1109 AU NM_015312 exon43 c.93780+100C>A 0.984225 1 Uncertain 4_123187869_C->T 4 123187869 123187869 C T snp 791.77 0/1 99 56 27 29 0.52 intronic rs7683061 KIAA1109 AU NM_015312 exon44 c.96135-68C>T 0.393371 0.3571 Uncertain 4_123192383_T->C 4 123192383 123192383 T C snp 2794.77 0/1 99 226 119 107 0.47 exonic rs45574236 KIAA1109 AU synonymous SNV NM_015312 exon45 c.T7704C p.D2568D 0.273363 0.3611 0.232754 0.3137 0.3726 1.0 P -0.977 T Likely benign 4_123203081_A->G 4 123203081 123203081 A G snp 44.77 0/1 31 3 1 2 0.67 intronic rs45520839 KIAA1109 AU NM_015312 exon50 c.111127+152A>G 0.272364 0.3571 Uncertain 4_123222418_A->- 4 123222418 123222418 A - indel 157.73 0/1 99 23 14 9 0.39 intronic rs10718670 KIAA1109 AU NM_015312 exon53 c.130652-36delA 0.357029 0.5129 0.5028 0.6025 Uncertain 4_123229132_C->T 4 123229132 123229132 C T snp 2034.77 0/1 99 142 57 85 0.6 exonic rs7688384 KIAA1109 AU synonymous SNV NM_015312 exon56 c.C9870T p.A3290A 0.277157 0.3611 0.249789 0.3233 0.3736 1.0 P -0.934 T Likely benign 4_123264485_T->C 4 123264485 123264485 T C snp 32.77 0/1 61 6 4 2 0.33 intronic rs7699742 KIAA1109 AU NM_015312 exon71 c.172762-79T>C 0.294329 0.4325 Uncertain 4_123283164_AT->- 4 123283164 123283165 AT - indel 789.73 0/1 99 31 13 18 0.58 intronic rs3033374 KIAA1109 AU NM_015312 exon84 c.191383-21_191383-20delAT 0.289537 0.4286 0.262179 0.3494 0.4536 Uncertain 4_123333671_A->G 4 123333671 123333671 A G snp 246.77 0/1 99 19 11 8 0.42 intronic rs2086346 ADAD1 AU NM_001159285 exon9 c.32510-63A>G 0.269768 0.3224 Uncertain 4_123342616_G->A 4 123342616 123342616 G A snp 255.77 0/1 99 20 10 10 0.5 intronic rs1383043 ADAD1 AU NM_001159285 exon11 c.41321+71G>A 0.491813 0.381 Uncertain 4_123377482_C->A 4 123377482 123377482 C A snp 758.77 0/1 99 68 36 32 0.47 exonic rs2069763 IL2 AU synonymous SNV NM_000586 exon1 c.G114T p.L38L 0.298722 0.4613 0.257497 0.3461 0.4727 ID=CS060537;DIS=Allergic disorders, association with;TAG=DP;PUB=16333313 DP Uncertain 4_123536963_G->A 4 123536963 123536963 G A snp 1013.77 1/1 72 41 0 41 1.0 exonic rs4833837 IL21 AR synonymous SNV NM_021803 exon3 c.C234T p.C78C 0.840455 0.8869 0.765339 0.7434 0.8831 ID=CM092574;DIS=Asthma, atopic, association with;TAG=DFP;PUB=18802358 DFP Uncertain 4_123838758_A->G 4 123838758 123838758 A G snp 2521.77 1/1 99 91 0 91 1.0 exonic rs12648093 NUDT6 AU nonsynonymous SNV NM_007083 exon2 c.T340C p.C114R 0.605631 0.9415 0.608629 0.6978 0.9502 0.46 T 0.009 P -1.023 T 0.0 T 0.001 T Pathogenic 4_123843716_T->C 4 123843716 123843716 T C snp 2740.77 1/1 99 85 0 85 1.0 exonic rs13134412 NUDT6 AU synonymous SNV NM_007083 exon1 c.A12G p.P4P 0.74361 0.9514 0.755032 0.8534 0.9574 Uncertain 4_123854495_T->C 4 123854495 123854495 T C snp 227.84 1/1 18 7 0 7 1.0 intronic rs1563706 SPATA5 AR NM_145207 exon4 c.10296-98T>C 0.743411 0.9514 Uncertain 4_123868279_G->T 4 123868279 123868279 G T snp 141.03 1/1 12 4 0 4 1.0 intronic rs11098682 SPATA5 AR NM_145207 exon9 c.24090-108G>T 0.743411 0.9514 Uncertain 4_123949556_G->A 4 123949556 123949556 G A snp 1807.77 1/1 99 59 1 58 0.98 splicing rs1472949 SPATA5 AR NM_145207 exon11 c.105253+6G>A 0.878594 0.9534 0.895202 0.9167 0.9620 Pathogenic 4_124323738_T->C 4 124323738 124323738 T C snp 661.77 0/1 99 51 26 25 0.49 UTR3 rs300574 SPRY1 AU 0.41873 0.4147 0.558828 0.5786 0.4495 Uncertain 4_125590478_T->C 4 125590478 125590478 T C snp 3057.77 0/1 99 249 130 119 0.48 exonic rs1874748 ANKRD50 AU synonymous SNV NM_001167882 exon3 c.A3417G p.P1139P 0.213658 0.2421 0.174689 0.1849 0.2398 Uncertain 4_125591687_A->G 4 125591687 125591687 A G snp 3624.77 0/1 99 250 116 134 0.54 exonic rs3733471 ANKRD50 AU synonymous SNV NM_001167882 exon3 c.T2208C p.N736N 0.28734 0.2629 0.259419 0.2499 0.2685 Uncertain 4_125592065_C->A 4 125592065 125592065 C A snp 2843.77 0/1 99 250 140 110 0.44 exonic rs10018651 ANKRD50 AU synonymous SNV NM_001167882 exon3 c.G1830T p.A610A 0.286741 0.2619 0.258957 0.2495 0.2681 Uncertain 4_125631013_C->T 4 125631013 125631013 C T snp 71.77 0/1 99 9 6 3 0.33 intronic ANKRD50 AU NM_020337 exon4 c.41013-141C>T Uncertain 4_126240510_T->C 4 126240510 126240510 T C snp 3154.77 0/1 99 250 129 121 0.48 exonic rs2940779 FAT4 AR synonymous SNV NM_024582 exon1 c.T2944C p.L982L 0.721046 0.4603 0.765950 0.7012 0.4739 Uncertain 4_126241335_C->G 4 126241335 126241335 C G snp 2436.77 0/1 99 208 108 100 0.48 exonic rs36052762 FAT4 AR nonsynonymous SNV NM_024582 exon1 c.C3769G p.Q1257E 0.108626 0.2014 0.038352 0.0852 0.2083 0.34 T 1.000 P -0.679 T 0.054 T 0.08 T Pathogenic 4_126241871_C->T 4 126241871 126241871 C T snp 3066.77 0/1 99 250 129 121 0.48 exonic rs2710555 FAT4 AR synonymous SNV NM_024582 exon1 c.C4305T p.I1435I 0.711262 0.4474 0.754361 0.6974 0.4581 Uncertain 4_126315034_T->C 4 126315034 126315034 T C snp 2988.77 1/1 99 104 0 104 1.0 intronic rs925243 FAT4 AR NM_024582 exon2 c.82372-4904T>C 0.938099 1 0.949409 Uncertain 4_126315282_A->G 4 126315282 126315282 A G snp 356.78 1/1 27 11 0 11 1.0 intronic rs925242 FAT4 AR NM_024582 exon2 c.82372-4656A>G 0.938099 1 Uncertain 4_126328453_G->A 4 126328453 126328453 G A snp 182.9 1/1 15 5 0 5 1.0 intronic rs4508902 FAT4 AR NM_024582 exon3 c.90730+157G>A 0.988419 1 Uncertain 4_126329789_T->C 4 126329789 126329789 T C snp 3236.77 1/1 99 101 0 101 1.0 exonic rs958415 FAT4 AR synonymous SNV NM_024582 exon4 c.T5760C p.D1920D 0.988419 1 0.990543 0.9966 0.9999 Uncertain 4_126335978_G->C 4 126335978 126335978 G C snp 2134.77 1/1 99 69 0 69 1.0 intronic rs4605670 FAT4 AR NM_024582 exon5 c.98472-60G>C 0.990815 1 Uncertain 4_126336990_G->T 4 126336990 126336990 G T snp 1751.77 1/1 99 49 0 49 1.0 intronic rs10010000 FAT4 AR NM_024582 exon5 c.99395+29G>T 0.990815 1 0.993277 0.9978 1 Uncertain 4_126337555_A->G 4 126337555 126337555 A G snp 2080.77 1/1 99 60 0 60 1.0 intronic rs7675556 FAT4 AR NM_024582 exon6 c.100036-47A>G 0.988419 1 0.990620 0.9965 1 Uncertain 4_126355609_T->G 4 126355609 126355609 T G snp 3211.76 1/1 99 98 0 98 1.0 intronic rs7656135 FAT4 AR NM_024582 exon7 c.118014+29T>G 0.990815 1 0.992388 0.9978 1 Uncertain 4_126369872_G->C 4 126369872 126369872 G C snp 7925.77 1/1 99 250 0 250 1.0 exonic rs988863 FAT4 AR synonymous SNV NM_024582 exon9 c.G7701C p.V2567V 0.990815 1 0.992387 0.9978 1 Uncertain 4_126372742_G->A 4 126372742 126372742 G A snp 1741.77 0/1 99 141 75 66 0.47 exonic rs1567047 FAT4 AR nonsynonymous SNV NM_024582 exon9 c.G10571A p.G3524D 0.230631 0.3909 0.220667 0.2673 0.4193 0.02 T 1.000 P -1.086 T 1.0 D 1.0 D Pathogenic 4_126373789_G->A 4 126373789 126373789 G A snp 4818.77 1/1 99 162 0 162 1.0 exonic rs12650153 FAT4 AR nonsynonymous SNV NM_024582 exon9 c.G11618A p.S3873N 0.991014 1 0.992465 0.9978 1 1 T 0.000 P -0.924 T 0.0 T 0.0 T Pathogenic 4_126384905_A->C 4 126384905 126384905 A C snp 107.77 0/1 99 10 6 4 0.4 intronic rs10010645 FAT4 AR NM_024582 exon10 c.147256+83A>C 0.310304 0.0605 Uncertain 4_126389627_A->G 4 126389627 126389627 A G snp 1476.77 1/1 99 47 0 47 1.0 intronic rs6814158 FAT4 AR NM_024582 exon11 c.152100-39A>G 0.991014 1 0.992853 0.9978 0.9996 Uncertain 4_126400825_G->T 4 126400825 126400825 G T snp 695.77 0/1 99 45 18 27 0.6 intronic rs1506361 FAT4 AR NM_024582 exon14 c.163329-70G>T 0.746805 0.8492 Uncertain 4_126401082_C->T 4 126401082 126401082 C T snp 286.77 0/1 99 34 21 13 0.38 intronic rs17009769 FAT4 AR NM_024582 exon14 c.163454+62C>T 0.0529153 0.0605 Uncertain 4_126402618_C->T 4 126402618 126402618 C T snp 181.77 0/1 99 13 7 6 0.46 intronic rs10026069 FAT4 AR NM_024582 exon15 c.165109-57C>T 0.204273 0.0605 Uncertain 4_126402921_T->G 4 126402921 126402921 T G snp 1328.77 0/1 99 121 71 50 0.41 intronic rs11098815 FAT4 AR NM_024582 exon15 c.165327+28T>G 0.384385 0.5903 0.330617 0.3805 0.6193 Uncertain 4_126412575_A->G 4 126412575 126412575 A G snp 1597.77 0/1 99 130 62 68 0.52 exonic rs1014866 FAT4 AR synonymous SNV NM_024582 exon17 c.A14598G p.R4866R 0.740615 0.8492 0.744195 0.7569 0.8726 Uncertain 4_126412891_C->T 4 126412891 126412891 C T snp 2840.77 0/1 99 203 84 119 0.59 exonic rs1014867 FAT4 AR nonsynonymous SNV NM_024582 exon17 c.C14914T p.P4972S 0.0537141 0.0605 0.051668 0.0543 0.0621 0.23 T 0.000 P -1.012 T 0.001 T 0.002 T Pathogenic 4_128544696_A->G 4 128544696 128544696 A G snp 3219.84 1/1 99 119 0 119 1.0 intergenic rs4834207 NONE UN 0.987021 1 0.9846 1 Uncertain 4_128565000_A->G 4 128565000 128565000 A G snp 6573.77 1/1 99 245 0 245 1.0 exonic rs3749507 INTU AU synonymous SNV NM_015693 exon2 c.A471G p.R157R 0.616414 0.5506 0.564047 0.5598 0.5270 Uncertain 4_128584504_G->A 4 128584504 128584504 G A snp 56.74 1/1 6 2 0 2 1.0 intronic rs72616924 INTU AU NM_015693 exon4 c.30346-31G>A 0.0712859 0.2679 0.011150 0.0560 0.3139 Uncertain 4_128584580_G->A 4 128584580 128584580 G A snp 695.77 1/1 51 26 0 26 1.0 exonic rs4833380 INTU AU synonymous SNV NM_015693 exon4 c.G813A p.T271T 0.64996 0.5526 0.610795 0.5881 0.5332 Uncertain 4_128584661_C->T 4 128584661 128584661 C T snp 1059.77 1/1 75 44 0 44 1.0 exonic rs35147318 INTU AU synonymous SNV NM_015693 exon4 c.C894T p.I298I 0.072484 0.2738 0.011610 0.0459 0.2628 Uncertain 4_128621272_A->C 4 128621272 128621272 A C snp 322.78 1/1 27 14 0 14 1.0 intronic rs12331481 INTU AU NM_015693 exon9 c.67029+54A>C 0.666933 0.5565 0.615688 Uncertain 4_128621301_G->A 4 128621301 128621301 G A snp 151.03 1/1 12 8 0 8 1.0 intronic rs72616933 INTU AU NM_015693 exon9 c.67029+83G>A 0.0726837 0.2748 Uncertain 4_128628100_A->C 4 128628100 128628100 A C snp 6404.77 1/1 99 230 1 229 1.0 exonic rs35858752 INTU AU nonsynonymous SNV NM_015693 exon12 c.A2247C p.L749F 0.0722843 0.2758 0.011456 0.0458 0.2653 0.7 T 1.000 P -1.003 T 0.0 T 0.0 T Pathogenic 4_128703950_C->T 4 128703950 128703950 C T snp 2617.77 1/1 99 75 0 75 1.0 intronic rs2276980 HSPA4L AU NM_014278 exon1 c.107+138C>T 0.072484 0.2669 Uncertain 4_128704882_A->G 4 128704882 128704882 A G snp 1253.77 1/1 90 45 0 45 1.0 intronic rs72616949 HSPA4L AU NM_014278 exon1 c.107+1070A>G 0.072484 0.2669 0.0124 0.2388 Uncertain 4_128722176_T->C 4 128722176 128722176 T C snp 383.77 1/1 30 10 0 10 1.0 intronic rs17012654 HSPA4L AU NM_014278 exon5 c.18587-116T>C 0.0726837 0.2679 Uncertain 4_128723042_T->C 4 128723042 128723042 T C snp 2756.77 1/1 99 104 0 104 1.0 exonic rs1380154 HSPA4L AU nonsynonymous SNV NM_014278 exon6 c.T632C p.L211S 0.745208 0.6756 0.713671 0.7048 0.6530 1 T 0.000 P -1.040 T 0.0 T 0.001 T Pathogenic 4_128739433_A->G 4 128739433 128739433 A G snp 1079.77 1/1 78 38 0 38 1.0 intronic rs17012683 HSPA4L AU NM_014278 exon13 c.35774-46A>G 0.0794728 0.2679 0.016385 0.0503 0.2731 Uncertain 4_128741493_A->G 4 128741493 128741493 A G snp 673.77 1/1 51 21 0 21 1.0 intronic rs72616953 HSPA4L AU NM_014278 exon14 c.37877-89A>G 0.0730831 0.2698 Uncertain 4_128803159_G->A 4 128803159 128803159 G A snp 604.77 1/1 45 21 0 21 1.0 intronic rs3811741 PLK4 AR NM_001190799 exon2 c.792+78G>A 0.756789 0.6756 Uncertain 4_128807219_T->A 4 128807219 128807219 T A snp 7587.77 1/1 99 240 0 240 1.0 exonic rs3811740 PLK4 AR nonsynonymous SNV NM_014264 exon5 c.T694A p.S232T 0.742212 0.6736 0.712517 0.7033 0.6526 0.65 T 0.0 P -1.004 T 0.0 T 0.001 T Pathogenic 4_128812230_-->T 4 128812230 128812230 - T indel 345.5 1/1 3 31 3 28 0.9 intronic rs200615480 PLK4 AR NM_001190799 exon7 c.9957-16insT 0.1179 0.2820 Uncertain 4_128814404_G->A 4 128814404 128814404 G A snp 59.74 1/1 6 3 0 3 1.0 intronic rs72616963 PLK4 AR NM_001190799 exon10 c.12150-35G>A 0.072484 0.2669 0.0493 0.2628 Uncertain 4_128814492_G->A 4 128814492 128814492 G A snp 1095.77 1/1 81 35 0 35 1.0 exonic rs56250604 PLK4 AR synonymous SNV NM_014264 exon11 c.G2241A p.G747G 0.072484 0.2669 0.009923 0.0468 0.2641 Uncertain 4_128814964_G->T 4 128814964 128814964 G T snp 7256.77 1/1 99 250 0 250 1.0 exonic rs17012739 PLK4 AR nonsynonymous SNV NM_014264 exon13 c.G2490T p.E830D 0.742412 0.6736 0.712748 0.7032 0.6525 0.61 T 0.0 P -1.091 T 0.0 T 0.001 T Pathogenic 4_128815969_T->A 4 128815969 128815969 T A snp 59.74 1/1 6 3 0 3 1.0 intronic rs60279389 PLK4 AR NM_001190799 exon13 c.13818-138T>A 0.072484 0.2669 Uncertain 4_128816260_C->G 4 128816260 128816260 C G snp 961.77 1/1 69 35 0 35 1.0 intronic rs17012743 PLK4 AR NM_001190799 exon13 c.13959+12C>G 0.072484 0.2669 0.010918 0.0475 0.2642 Uncertain 4_128817906_T->- 4 128817906 128817906 T - indel 624.73 0/1 35 41 9 32 0.78 intronic rs35646358 PLK4 AR NM_001190799 exon14 c.15666-49delT 0.290935 0.3968 0.179313 0.1977 0.3728 Uncertain 4_128842761_G->A 4 128842761 128842761 G A snp 3536.77 1/1 99 130 0 130 1.0 exonic rs3733319 MFSD8 AR nonsynonymous SNV NM_152778 exon12 c.C1268T p.A423V 0.122804 0.2649 0.070583 0.0614 0.2627 0.5 T 0.998 P -1.055 T 0.0 T 0.001 T CLINSIG=probable-non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=no_assertion_criteria_provided|criteria_provided\x2c_single_submitter;CLNACC=RCV000117617.2|RCV000126763.1;CLNDSDB=MedGen|MedGen;CLNDSDBID=CN169374|CN221809 Pathogenic 4_128852057_T->G 4 128852057 128852057 T G snp 141.03 1/1 12 5 0 5 1.0 intronic rs17012788 MFSD8 AR NM_152778 exon4 c.10188+85T>G 0.122804 0.2649 Uncertain 4_128859769_A->T 4 128859769 128859769 A T snp 46.74 1/1 6 2 0 2 1.0 intronic rs137889791 MFSD8 AR NM_152778 exon6 c.18153-168A>T 0.108427 0.245 Uncertain 4_128863049_G->C 4 128863049 128863049 G C snp 212.84 1/1 18 6 0 6 1.0 intronic rs59117993 MFSD8 AR NM_152778 exon8 c.21415-150G>C 0.0690895 0.251 Uncertain 4_128904280_T->C 4 128904280 128904280 T C snp 548.77 1/1 42 16 0 16 1.0 intronic rs72618809 C4orf29 AU NM_001039717 exon2 c.92+78T>C 0.124401 0.2738 Uncertain 4_128922744_T->C 4 128922744 128922744 T C snp 1958.77 1/1 99 68 0 68 1.0 intronic rs72618813 C4orf29 AU NM_001039717 exon5 c.25964-7330T>C 0.124601 0.2738 Uncertain 4_128923001_G->T 4 128923001 128923001 G T snp 463.77 1/1 36 14 0 14 1.0 intronic rs11930692 C4orf29 AU NM_001039717 exon5 c.25964-7073G>T 0.170927 0.2976 Uncertain 4_128930817_T->A 4 128930817 128930817 T A snp 992.77 1/1 72 33 0 33 1.0 intronic rs72618814 C4orf29 AU NM_001039717 exon6 c.26236+471T>A 0.0742812 0.2738 Uncertain 4_128930891_G->A 4 128930891 128930891 G A snp 83.77 0/1 69 7 3 4 0.57 intronic rs145588782 C4orf29 AU NM_001039717 exon6 c.26236+545G>A 0.00259585 0.0129 Uncertain 4_128949799_C->T 4 128949799 128949799 C T snp 6863.77 1/1 99 250 0 250 1.0 exonic rs58225850 C4orf29 AU nonsynonymous SNV NM_001039717 exon10 c.C869T p.A290V 0.0734824 0.2718 0.011218 0.0460 0.2653 0.18 T 0.029 P -1.008 T 0.604 T 0.207 P Pathogenic 4_128949850_A->G 4 128949850 128949850 A G snp 6759.77 1/1 99 246 0 246 1.0 exonic rs35763794 C4orf29 AU nonsynonymous SNV NM_001039717 exon10 c.A920G p.N307S 0.0734824 0.2718 0.011021 0.0461 0.2655 0.75 T 0.0 P -0.970 T 0.003 T 0.005 T Pathogenic 4_128949929_C->A 4 128949929 128949929 C A snp 4725.77 1/1 99 162 0 162 1.0 exonic rs60505265 C4orf29 AU nonsynonymous SNV NM_001039717 exon10 c.C999A p.S333R 0.0876597 0.2718 0.024128 0.0497 0.2650 0.73 T 0.000 P -0.960 T 0.0 T 0.002 T Pathogenic 4_128951534_G->A 4 128951534 128951534 G A snp 56.74 1/1 6 2 0 2 1.0 intronic rs72618820 C4orf29 AU NM_001039717 exon11 c.47554-130G>A 0.0734824 0.2718 Uncertain 4_128995989_A->G 4 128995989 128995989 A G snp 402.77 0/1 99 34 15 19 0.56 intronic rs6534661 LARP1B AU 0.591054 0.5288 Uncertain 4_129012181_G->A 4 129012181 129012181 G A snp 312.77 0/1 99 31 15 16 0.52 exonic rs2306054 LARP1B AU synonymous SNV NM_001278604 exon6 c.G384A p.R128R 0.638379 0.5288 0.652161 0.6678 0.5014 1.000 P -0.977 T Likely benign 4_129012638_A->G 4 129012638 129012638 A G snp 760.77 0/1 99 53 22 31 0.58 exonic rs1064205 LARP1B AU synonymous SNV NM_001278604 exon7 c.A639G p.A213A 0.637979 0.5288 0.652314 0.6678 0.5007 0.032 P -0.984 T Likely benign 4_129019691_G->A 4 129019691 129019691 G A snp 54.74 1/1 6 2 0 2 1.0 intronic rs4833396 LARP1B AU NM_032239 exon8 c.23379+206G>A 0.999401 1 Uncertain 4_129029009_-->A 4 129029009 129029009 - A indel 1565.73 0/1 99 134 75 59 0.44 UTR3 rs34678812 LARP1B AU 0.590455 0.5278 0.7316 0.5941 Uncertain 4_129043204_C->G 4 129043204 129043204 C G snp 380.77 0/1 99 37 22 15 0.41 exonic rs12508837 LARP1B AU nonsynonymous SNV NM_018078 exon11 c.C1385G p.P462R 0.590256 0.5288 0.594034 0.6529 0.5017 0.09 T 1.0 P -0.953 T 1.0 D 1.0 D Pathogenic 4_129043286_C->T 4 129043286 129043286 C T snp 689.77 0/1 99 75 43 32 0.43 exonic rs3733320 LARP1B AU synonymous SNV NM_018078 exon11 c.C1467T p.Y489Y 0.590855 0.5288 0.594110 0.6531 0.5019 Uncertain 4_129043601_-->G 4 129043601 129043601 - G indel 432.73 0/1 99 25 10 15 0.6 intronic rs3832282 LARP1B AU NM_178043 exon11 c.47402+93insG 0.585863 0.4742 0.7368 0.5859 Uncertain 4_129043614_G->T 4 129043614 129043614 G T snp 600.77 0/1 99 38 13 25 0.66 intronic rs3733321 LARP1B AU NM_178043 exon11 c.47402+106G>T 0.585863 0.4742 0.7775 0.6559 Uncertain 4_129043809_G->A 4 129043809 129043809 G A snp 971.77 0/1 99 64 28 36 0.56 intronic rs12509092 LARP1B AU NM_178043 exon11 c.47402+301G>A 0.590455 0.5288 Uncertain 4_129100643_G->A 4 129100643 129100643 G A snp 2343.77 0/1 99 207 102 105 0.51 exonic rs12645577 LARP1B AU nonsynonymous SNV NM_018078 exon15 c.G1979A p.R660H 0.569489 0.5218 0.577041 0.6468 0.4932 1 T 0.018 P -0.918 T 0.0 T 0.0 T Pathogenic 4_129100777_T->C 4 129100777 129100777 T C snp 225.77 0/1 99 11 4 7 0.64 intronic rs78426837 LARP1B AU NM_018078 exon15 c.104561+110T>C 0.0327476 0.1111 Uncertain 4_129128383_C->T 4 129128383 129128383 C T snp 64.77 0/1 93 8 5 3 0.38 intronic rs78286646 LARP1B AU NM_018078 exon19 c.132304-27C>T 0.0371406 0.1111 0.006920 0.0405 0.1775 Uncertain 4_129143534_A->G 4 129143534 129143534 A G snp 1316.77 0/1 99 151 92 59 0.39 intergenic rs74738254 LARP1B AU 0.0373403 0.1121 0.0125 0.1212 0 D 1 N -1.022 T 0.0 T 0.0 T Uncertain 4_129143627_T->C 4 129143627 129143627 T C snp 699.77 0/1 99 84 50 34 0.4 intergenic rs78821183 LARP1B AU 0.0441294 0.1121 Uncertain 4_129208649_C->T 4 129208649 129208649 C T snp 1734.77 0/1 99 134 66 68 0.51 exonic rs3733261 PGRMC2 AU synonymous SNV NM_006320 exon1 c.G369A p.K123K 0.0251597 0.0883 0.005295 0.0214 0.0849 Uncertain 4_129209114_C->A 4 129209114 129209114 C A snp 59.74 1/1 6 3 0 3 1.0 UTR5 rs41298551 PGRMC2 AU 0.0251597 0.0883 Uncertain 4_129776983_-->T 4 129776983 129776983 - T indel 669.73 1/1 69 32 0 32 1.0 intronic rs76983300 JADE1 AU NM_001287443 exon7 c.24039+31insT 0.452963 0.5569 0.6227 Uncertain 4_129782853_T->C 4 129782853 129782853 T C snp 476.77 0/1 99 46 26 20 0.43 splicing rs113154795 JADE1 AU NM_001287443 exon9 c.29945-5T>C 0.00958466 0.0337 0.000231 0.0078 0.0458 Pathogenic 4_129864275_C->T 4 129864275 129864275 C T snp 1967.77 0/1 99 172 89 83 0.48 exonic rs77885682 SCLT1 AU nonsynonymous SNV NM_144643 exon17 c.G1508A p.R503K 0.014377 0.0317 0.000231 0.0079 0.0439 1 D -1.232 T 0.996 D 0.987 D Pathogenic 4_129924977_C->A 4 129924977 129924977 C A snp 6002.77 1/1 99 232 0 232 1.0 exonic rs3113487 SCLT1 AU synonymous SNV NM_144643 exon6 c.G345T p.L115L 0.540136 0.6429 0.541141 0.6267 0.6308 Uncertain 4_129961179_A->G 4 129961179 129961179 A G snp 1446.77 1/1 99 50 0 50 1.0 intronic rs3113489 SCLT1 AU NM_001300897 exon1 c.6-188A>G 0.712061 0.748 Uncertain 4_129965026_T->C 4 129965026 129965026 T C snp 175.9 1/1 15 5 0 5 1.0 intronic rs1450727 SCLT1 AU NM_144643 exon19 c.159516-121T>C 0.235623 0.3036 Uncertain 4_130023759_A->T 4 130023759 130023759 A T snp 2593.77 1/1 99 92 1 91 0.99 UTR5 rs1757935 C4orf33 AU 0.682708 0.7242 0.686991 0.7822 0.7433 Uncertain 4_130030652_A->G 4 130030652 130030652 A G snp 3563.77 1/1 99 131 0 131 1.0 exonic rs337277 C4orf33 AU nonsynonymous SNV NM_001099783 exon5 c.A319G p.M107V 0.695088 0.7411 0.697370 0.7845 0.7635 1 T 0.0 P -0.962 T 0.0 T 0.0 T Pathogenic 4_130030944_C->A 4 130030944 130030944 C A snp 258.8 1/1 21 7 0 7 1.0 intronic rs337276 C4orf33 AU NM_173487 exon5 c.7062+117C>A 0.532348 0.6339 Uncertain 4_133367588_T->C 4 133367588 133367588 T C snp 1603.77 1/1 99 60 0 60 1.0 intergenic rs1827132 LOC101927305 AU 0.962859 0.9494 0.9730 0.9470 Uncertain 4_133367655_G->A 4 133367655 133367655 G A snp 594.77 0/1 99 46 20 26 0.57 intergenic rs1827133 LOC101927305 AU 0.592652 0.5397 0.6438 0.4773 Uncertain 4_133368136_A->T 4 133368136 133368136 A T snp 385.77 0/1 99 55 37 18 0.33 intergenic rs78368688 LOC101927305 AU 0.0958466 0.2202 Uncertain 4_133368361_-->C 4 133368361 133368361 - C indel 1133.73 1/1 78 26 0 26 1.0 intergenic rs70948202 LOC101927305 AU 0.865615 0.8581 Uncertain 4_134074058_A->G 4 134074058 134074058 A G snp 380.77 0/1 99 26 12 14 0.54 intronic rs3749589 PCDH10 AU NM_032961 exon1 c.2631+132A>G 0.491214 0.375 Uncertain 4_134084958_G->A 4 134084958 134084958 G A snp 32.77 0/1 61 7 5 2 0.29 intronic rs2420154 PCDH10 AU NM_032961 exon4 c.13142+521G>A 0.519968 0.5119 Uncertain 4_135121066_T->G 4 135121066 135121066 T G snp 2154.77 1/1 99 71 0 71 1.0 exonic rs11099273 PABPC4L AU nonsynonymous SNV NM_001114734 exon2 c.A1283C p.H428P 0.629992 0.9841 0.4729 0.9739 Pathogenic 4_135121368_G->T 4 135121368 135121368 G T snp 7278.77 1/1 99 250 0 250 1.0 exonic rs2044116 PABPC4L AU synonymous SNV NM_001114734 exon2 c.C981A p.V327V 0.636981 0.9841 0.417214 0.4738 0.9733 Uncertain 4_135121601_C->T 4 135121601 135121601 C T snp 7656.77 1/1 99 250 0 250 1.0 exonic rs10009368 PABPC4L AU nonsynonymous SNV NM_001114734 exon2 c.G748A p.V250I 0.636781 0.9841 0.417433 0.4729 0.9718 Pathogenic 4_138442663_G->A 4 138442663 138442663 G A snp 1190.77 0/1 99 112 60 52 0.46 exonic rs150208982 PCDH18 AU synonymous SNV NM_019035 exon4 c.C2928T p.S976S 0.00419329 0.0149 0.000461 0.0014 0.0130 Uncertain 4_138449683_A->G 4 138449683 138449683 A G snp 2918.77 0/1 99 250 121 129 0.52 exonic rs10018837 PCDH18 AU synonymous SNV NM_019035 exon3 c.T2689C p.L897L 0.570487 0.5079 0.550746 0.4742 0.4993 Uncertain 4_138449812_C->G 4 138449812 138449812 C G snp 2116.77 0/1 99 188 93 95 0.51 intronic rs10006580 PCDH18 AU NM_001300828 exon2 c.7613+17C>G 0.552516 0.5079 0.534830 0.4714 0.5007 Uncertain 4_138450049_A->C 4 138450049 138450049 A C snp 568.77 0/1 99 41 23 18 0.44 intronic rs185305401 PCDH18 AU NM_019035 exon3 c.7792+75A>C 0.00159744 0.006 Uncertain 4_138453529_T->C 4 138453529 138453529 T C snp 750.77 0/1 99 36 13 23 0.64 UTR5 rs78432334 PCDH18 AU 0.0453275 0.0139 Uncertain 4_139100372_C->T 4 139100372 139100372 C T snp 394.77 1/1 30 12 0 12 1.0 splicing rs4479754 SLC7A11 AU NM_014331 exon2 c.7263C>T 0.913538 1 0.911027 0.9749 1 Pathogenic 4_139103366_A->G 4 139103366 139103366 A G snp 225.84 1/1 18 7 0 7 1.0 intronic rs10016559 SLC7A11 AU NM_014331 exon4 c.10341-84A>G 0.941094 1 Uncertain 4_139140388_G->A 4 139140388 139140388 G A snp 6987.77 1/1 99 250 0 250 1.0 intronic rs10025342 SLC7A11 AU NM_014331 exon8 c.47310-31G>A 0.976837 1 0.977318 0.9933 1 Uncertain 4_139140494_G->C 4 139140494 139140494 G C snp 2093.77 0/1 99 192 98 94 0.49 exonic rs6838248 SLC7A11 AU synonymous SNV NM_014331 exon5 c.C672G p.A224A 0.342053 0.0764 0.427956 0.4294 0.0822 Uncertain 4_139153317_T->A 4 139153317 139153317 T A snp 530.77 0/1 99 29 10 19 0.66 intronic rs6823642 SLC7A11 AU NM_014331 exon10 c.60311-103T>A 0.335663 0.0764 Uncertain 4_139483149_G->A 4 139483149 139483149 G A snp 816.77 0/1 99 70 36 34 0.49 intergenic rs192474072 LINC00499 AU 0.0117812 0.0228 Uncertain 4_139937071_C->T 4 139937071 139937071 C T snp 56.74 1/1 6 2 0 2 1.0 UTR5 rs3749515 CCRN4L AU 0.637181 0.751 Uncertain 4_139994863_T->C 4 139994863 139994863 T C snp 99.28 1/1 9 3 0 3 1.0 intronic rs17050688 ELF2 AU NM_001276457 exon5 c.14585+142T>C 0.249201 0.505 Uncertain 4_140005294_A->G 4 140005294 140005294 A G snp 7348.77 1/1 99 247 1 246 1.0 exonic rs4863628 ELF2 AU synonymous SNV NM_001276457 exon1 c.T51C p.I17I 0.999002 1 0.999539 0.9999 1 Uncertain 4_140039107_-->A 4 140039107 140039107 - A indel 135.52 1/1 7 12 1 11 0.92 intronic rs397780152 ELF2 AU NM_201999 exon7 c.66181-7210insA 0.890575 0.9256 0.5 0.5 Uncertain 4_140263849_G->A 4 140263849 140263849 G A snp 808.77 1/1 60 24 0 24 1.0 intronic rs11944434 NAA15 AU NM_057175 exon5 c.41048-130G>A 0.924321 0.9444 Uncertain 4_140417471_G->T 4 140417471 140417471 G T snp 2114.77 1/1 99 72 0 72 1.0 intergenic rs4863655 RAB33B AR 0.844249 0.9921 0.8795 0.9924 Uncertain 4_140417671_G->C 4 140417671 140417671 G C snp 4816.77 1/1 99 171 0 171 1.0 intergenic rs4863656 RAB33B AR 0.81849 0.994 0.8741 1 0.26 T 0.000 P -1.015 T Uncertain 4_140587263_C->T 4 140587263 140587263 C T snp 626.77 1/1 48 21 0 21 1.0 intronic rs2646047 MGST2 AU NM_001204368 exon1 c.58+32C>T 0.289736 0.3968 0.3126 0.5581 Uncertain 4_140587269_-->GTGCGCGCGCGC 4 140587269 140587269 - GTGCGCGCGCGC indel 1596.73 1/1 51 17 0 17 1.0 intronic rs570913348 MGST2 AU NM_001204368 exon1 c.58+38insGTGCGCGCGCGC 0.140974 0.252 0.0051 0.0240 Uncertain 4_140587271_C->T 4 140587271 140587271 C T snp 203.8 0/1 21 11 3 8 0.73 intronic rs200962305 MGST2 AU NM_001204368 exon1 c.58+40C>T Uncertain 4_140616462_G->A 4 140616462 140616462 G A snp 1421.77 1/1 99 57 0 57 1.0 intronic rs2646077 MGST2 AU NM_001204367 exon2 c.25+41G>A 0.545327 0.6667 0.455021 0.3865 0.6478 Uncertain 4_140625323_A->G 4 140625323 140625323 A G snp 3174.77 1/1 99 113 0 113 1.0 UTR3 rs925424 MGST2 AU 0.994808 1 0.995848 0.9988 1 Uncertain 4_140651585_CTG->- 4 140651585 140651587 CTG - indel 9166.73 1/1 99 201 0 201 1.0 exonic rs3051167 MAML3 AU nonframeshift deletion NM_018717 exon4 c.2302_2304del p.768_768del 0.991014 0.997 0.9006 0.9397 ID=COSM447404,COSM447403;OCCURENCE=1(endometrium),1(breast) Uncertain 4_140810334_T->C 4 140810334 140810334 T C snp 1912.77 0/1 99 154 75 79 0.51 intronic rs3733381 MAML3 AU NM_018717 exon4 c.170034-176T>C 0.710064 0.6944 0.752180 0.8523 0.7032 Uncertain 4_140810637_C->T 4 140810637 140810637 C T snp 591.77 0/1 99 46 25 21 0.46 exonic rs11100342 MAML3 AU synonymous SNV NM_018717 exon3 c.G1941A p.P647P 0.505391 0.6607 0.536506 0.6444 0.6819 Uncertain 4_140810966_T->C 4 140810966 140810966 T C snp 2279.77 0/1 99 250 149 101 0.4 exonic rs148778901 MAML3 AU nonsynonymous SNV NM_018717 exon3 c.A1612G p.M538V 0.00179712 0.0089 0.000080 0.0006 0.0078 0.92 T 1.000 D -0.972 T 0.969 D 0.914 D Pathogenic 4_140811064_TGCTGC->- 4 140811064 140811069 TGCTGC - indel 6643.73 ./1 99 141 1 140 0.99 exonic rs757268789 MAML3 AU frameshift deletion NM_018717 exon3 c.1513_1514del p.Q505fs 0.0244 0.0102 ID=COSM1724119,COSM1724120;OCCURENCE=2(NS) Pathogenic 4_140811064_TGCTGCTGCTGC->- 4 140811064 140811075 TGCTGCTGCTGC - indel 6643.73 ./1 99 141 1 140 0.99 exonic rs774201781 MAML3 AU frameshift deletion NM_018717 exon3 c.1513_1514del p.Q505fs 0.0057 0.0020 ID=COSM1051420,COSM1051421;OCCURENCE=1(endometrium) Pathogenic 4_140811084_C->T 4 140811084 140811084 C T snp 180.77 0/1 99 135 117 18 0.13 exonic rs12506879 MAML3 AU synonymous SNV NM_018717 exon2 c.G1506A p.Q502Q 0.422524 0.4177 0.3406 0.0936 Uncertain 4_140811096_C->T 4 140811096 140811096 C T snp 1082.77 0/1 99 149 99 50 0.34 exonic rs79090010 MAML3 AU synonymous SNV NM_018717 exon2 c.G1494A p.Q498Q 0.251597 0.2321 Uncertain 4_140811135_T->C 4 140811135 140811135 T C snp 1832.77 0/1 99 170 91 79 0.46 exonic rs3733382 MAML3 AU synonymous SNV NM_018717 exon2 c.A1455G p.K485K 0.528754 0.6617 0.582756 0.6897 0.6832 Uncertain 4_141073979_C->T 4 141073979 141073979 C T snp 116.77 0/1 99 10 5 5 0.5 intronic MAML3 AU NM_018717 exon6 c.433537-34C>T Uncertain 4_141212618_T->A 4 141212618 141212618 T A snp 1549.77 0/1 99 139 71 68 0.49 ncRNA_exonic rs11938800 SCOC-AS1 AU 0.0379393 0.0476 0.0146 0.0294 Uncertain 4_141290281_C->G 4 141290281 141290281 C G snp 93.28 1/1 9 3 0 3 1.0 ncRNA_intronic rs4956386 SCOC-AS1 AU 0.951677 0.998 Uncertain 4_141290574_C->T 4 141290574 141290574 C T snp 1568.77 1/1 99 56 0 56 1.0 ncRNA_intronic rs2668577 SCOC-AS1 AU 0.952276 0.998 Uncertain 4_141294814_G->C 4 141294814 141294814 G C snp 854.77 0/1 99 74 38 36 0.49 exonic rs2271430 SCOC AU nonsynonymous SNV NM_001153484 exon1 c.G124C p.V42L 0.121206 0.2302 0.093736 0.1090 0.2318 0.15 T 0.000 P -1.089 T 0.001 T 0.001 T Pathogenic 4_141310226_T->G 4 141310226 141310226 T G snp 354.77 0/1 99 16 4 12 0.75 UTR3 rs3805317 CLGN AU 0.15595 0.246 Uncertain 4_141311960_T->C 4 141311960 141311960 T C snp 548.77 1/1 42 14 0 14 1.0 intronic rs358329 CLGN AU NM_004362 exon2 c.1505+78T>C 0.795527 0.7778 Uncertain 4_141321425_A->G 4 141321425 141321425 A G snp 472.77 1/1 36 13 0 13 1.0 intronic rs2252427 CLGN AU NM_004362 exon9 c.11133-85A>G 0.795128 0.7778 Uncertain 4_141372485_T->C 4 141372485 141372485 T C snp 50.74 1/1 6 2 0 2 1.0 intronic rs6536966 MGAT4D AU NM_001277353 exon2 c.7974-78T>C 0.64397 0.7738 Uncertain 4_141383034_-->ACAC 4 141383034 141383034 - ACAC indel 351.73 0/1 99 40 21 19 0.47 intronic rs10644682 MGAT4D AU NM_001277353 exon5 c.18493-48insACAC 0.0351 0.0986 Uncertain 4_141395837_G->A 4 141395837 141395837 G A snp 262.77 0/1 99 14 6 8 0.57 intronic rs11933021 MGAT4D AU NM_001277353 exon8 c.31377-129G>A 0.221645 0.4335 Uncertain 4_141400531_C->T 4 141400531 141400531 C T snp 233.77 0/1 99 16 7 9 0.56 intronic rs17006025 MGAT4D AU NM_001277353 exon9 c.36054-112C>T 0.0650958 0.2312 Uncertain 4_141400567_T->A 4 141400567 141400567 T A snp 494.77 0/1 99 41 19 22 0.54 intronic rs79807066 MGAT4D AU NM_001277353 exon9 c.36054-76T>A 0.221845 0.4335 Uncertain 4_141400570_A->G 4 141400570 141400570 A G snp 502.77 0/1 99 43 20 23 0.53 intronic rs12502712 MGAT4D AU NM_001277353 exon9 c.36054-73A>G 0.314696 0.498 Uncertain 4_141400788_-->A 4 141400788 141400788 - A indel 123.73 0/1 99 18 8 10 0.56 intronic rs112616154 MGAT4D AU NM_001277353 exon9 c.36192+7insA 0.174321 0.2956 0.1754 0.35 Uncertain 4_141419173_G->A 4 141419173 141419173 G A snp 530.77 0/1 99 45 26 19 0.42 intronic rs117691372 MGAT4D AU NM_001277353 exon11 c.54693-109G>A 0.0656949 0.2341 Uncertain 4_141446510_-->TAAT 4 141446510 141446510 - TAAT indel 406.73 0/1 99 21 14 7 0.33 intronic rs3833618 ELMOD2 AU 0.388578 0.495 Uncertain 4_141446767_G->T 4 141446767 141446767 G T snp 1131.77 0/1 99 58 19 39 0.67 intronic rs3828535 ELMOD2 AU NM_153702 exon2 c.142+43G>T 0.388578 0.495 0.302091 0.3130 0.4719 Uncertain 4_141448610_G->T 4 141448610 141448610 G T snp 49.77 0/1 78 17 10 7 0.41 intronic rs755660121 ELMOD2 AU NM_153702 exon3 c.2037-9G>T 0.0009 0.0015 Uncertain 4_141458485_T->G 4 141458485 141458485 T G snp 117.77 0/1 99 8 4 4 0.5 intronic rs882930 ELMOD2 AU NM_153702 exon5 c.11983-80T>G 0.476238 0.4792 Uncertain 4_141489016_C->T 4 141489016 141489016 C T snp 1321.77 0/1 99 137 76 61 0.45 exonic rs555800104 UCP1 AR,AD,AO nonsynonymous SNV NM_021833 exon2 c.G242A p.G81E 9.888e-05 0.0008 0 D 1 D 0.463 D 1.0 D 1.0 D Pathogenic 4_141543997_G->A 4 141543997 141543997 G A snp 2212.77 0/1 99 180 86 94 0.52 exonic rs1560440 TBC1D9 AU synonymous SNV NM_015130 exon21 c.C3153T p.H1051H 0.822484 0.6339 0.804589 0.8045 0.6801 Uncertain 4_141549393_C->A 4 141549393 141549393 C A snp 2205.77 0/1 99 197 105 92 0.47 intronic rs2291711 TBC1D9 AU NM_015130 exon5 c.6105-60C>A 0.699081 0.6319 0.643671 Uncertain 4_141555062_G->T 4 141555062 141555062 G T snp 839.77 0/1 99 68 35 33 0.49 intronic rs6851737 TBC1D9 AU NM_015130 exon6 c.11753-39G>T 0.698882 0.6319 0.653008 0.6539 0.6476 Uncertain 4_141560788_C->T 4 141560788 141560788 C T snp 93.77 0/1 99 10 6 4 0.4 intronic rs11932511 TBC1D9 AU NM_015130 exon8 c.17234+206C>T 0.823083 0.6369 Uncertain 4_141578155_C->T 4 141578155 141578155 C T snp 50.74 1/1 6 2 0 2 1.0 intronic rs7683748 TBC1D9 AU NM_015130 exon9 c.34902-95C>T 0.587061 0.6468 Uncertain 4_141592206_A->G 4 141592206 141592206 A G snp 105.77 0/1 66 8 2 6 0.75 intronic rs4956473 TBC1D9 AU NM_015130 exon15 c.48732+126A>G 0.508387 0.4732 Uncertain 4_141600320_A->G 4 141600320 141600320 A G snp 1341.77 0/1 99 106 59 47 0.44 exonic rs4956329 TBC1D9 AU synonymous SNV NM_015130 exon5 c.T627C p.L209L 0.634984 0.5655 0.684438 0.6622 0.5716 Uncertain 4_141607679_C->T 4 141607679 141607679 C T snp 542.77 0/1 99 63 37 26 0.41 intronic rs13112073 TBC1D9 AU NM_015130 exon19 c.64268+63C>T 0.328474 0.4335 Uncertain 4_141677006_-->G 4 141677006 141677006 - G indel 1386.73 1/1 99 35 0 35 1.0 intronic rs70943501 TBC1D9 AU NM_015130 exon21 c.133721-63insG 1 1 Uncertain 4_141847077_G->A 4 141847077 141847077 G A snp 1876.77 0/1 99 137 53 84 0.61 intronic rs13138724 RNF150 AU NM_020724 exon3 c.57716-53G>A 0.662939 0.8978 Uncertain 4_141847110_T->C 4 141847110 141847110 T C snp 2224.77 0/1 99 157 63 94 0.6 intronic rs13120735 RNF150 AU NM_020724 exon3 c.57716-20T>C 0.662939 0.8978 0.538521 0.6014 0.8881 Uncertain 4_141847279_G->A 4 141847279 141847279 G A snp 503.77 0/1 99 42 22 20 0.48 intronic rs12503723 RNF150 AU NM_020724 exon3 c.57813+52G>A 0.662939 0.8978 0.546205 0.5991 0.8886 Uncertain 4_141847350_C->T 4 141847350 141847350 C T snp 43.74 1/1 6 3 0 3 1.0 intronic rs28372287 RNF150 AU NM_020724 exon3 c.57813+123C>T 0.432907 0.6756 Uncertain 4_141868736_G->T 4 141868736 141868736 G T snp 266.77 0/1 99 19 9 10 0.53 intronic rs2321687 RNF150 AU NM_020724 exon4 c.79393-71G>T 0.481629 0.3264 Uncertain 4_141869062_C->T 4 141869062 141869062 C T snp 821.77 0/1 99 53 23 30 0.57 intronic rs6857782 RNF150 AU NM_020724 exon4 c.79476+172C>T 0.452276 0.3264 Uncertain 4_141870277_C->T 4 141870277 141870277 C T snp 37.77 0/1 66 6 4 2 0.33 intronic rs4956493 RNF150 AU NM_020724 exon5 c.81040-177C>T 0.412141 0.1895 Uncertain 4_141870648_G->A 4 141870648 141870648 G A snp 410.77 0/1 99 39 25 14 0.36 intronic rs4956494 RNF150 AU NM_020724 exon5 c.81112+122G>A 0.412141 0.1895 Uncertain 4_141924720_-->AC 4 141924720 141924720 - AC indel 2557.73 ./1 99 40 5 35 0.88 intronic RNF150 AU NM_020724 exon6 c.99613+35693insAC Uncertain 4_141924721_ACACACACAC->- 4 141924721 141924730 ACACACACAC - indel 2557.73 ./1 99 40 5 35 0.88 intronic rs200083054 RNF150 AU NM_020724 exon6 c.99613+35694_99613+35703delACACACACAC Uncertain 4_141940074_T->C 4 141940074 141940074 T C snp 901.77 1/1 63 40 0 40 1.0 intronic rs4245936 RNF150 AU NM_020724 exon6 c.99613+51047T>C 0.904353 0.9722 Uncertain 4_142150860_T->G 4 142150860 142150860 T G snp 2147.77 0/1 99 198 107 91 0.46 intronic rs7684664 ZNF330 AU NM_001292002 exon5 c.7217+9T>G 0.404952 0.6161 0.327157 0.2972 0.6255 Uncertain 4_142150894_T->G 4 142150894 142150894 T G snp 1863.77 0/1 99 150 74 76 0.51 intronic rs62327566 ZNF330 AU NM_001292002 exon5 c.7217+43T>G 0.445487 0.6161 0.364678 0.3082 0.6256 Uncertain 4_142151262_T->C 4 142151262 142151262 T C snp 91.77 0/1 33 7 2 5 0.71 intronic rs3756106 ZNF330 AU NM_001292002 exon6 c.7685-57T>C 0.404353 0.6161 Uncertain 4_142640462_C->T 4 142640462 142640462 C T snp 1899.77 1/1 99 62 0 62 1.0 intronic rs1493013 IL15 AU 0.706669 0.9296 Uncertain 4_142640463_C->T 4 142640463 142640463 C T snp 1985.77 1/1 99 62 0 62 1.0 intronic rs1493012 IL15 AU 0.70647 0.9296 Uncertain 4_142640538_T->C 4 142640538 142640538 T C snp 3175.77 1/1 99 126 0 126 1.0 UTR5 rs2254514 IL15 AU 0.834465 0.9931 0.749890 Uncertain 4_142640637_A->G 4 142640637 142640637 A G snp 2102.77 1/1 99 73 0 73 1.0 intronic rs2857261 IL15 AU NM_000585 exon3 c.12+8A>G 0.504393 0.5298 0.476161 0.4920 0.5314 Uncertain 4_142651159_T->C 4 142651159 142651159 T C snp 6294.77 1/1 99 228 0 228 1.0 intronic rs12510030 IL15 AU NM_172175 exon9 c.8836+22T>C 0.530152 0.5288 0.501308 0.4976 0.5304 Uncertain 4_142651265_T->C 4 142651265 142651265 T C snp 3633.77 1/1 99 120 0 120 1.0 intronic rs17007610 IL15 AU NM_172175 exon9 c.8836+128T>C 0.527356 0.5288 Uncertain 4_143003155_-->A 4 143003155 143003155 - A indel 1745.73 1/1 99 55 0 55 1.0 intronic rs11446749 INPP4B AU NM_003866 exon2 c.53249-28insA 0.874601 0.9335 0.887877 0.9512 0.9399 Uncertain 4_143007169_C->A 4 143007169 143007169 C A snp 1752.77 1/1 99 55 0 55 1.0 intronic rs2292392 INPP4B AU NM_003866 exon3 c.57362-127C>A 0.267572 0.3085 Uncertain 4_143007197_C->T 4 143007197 143007197 C T snp 2777.77 1/1 99 94 0 94 1.0 intronic rs336325 INPP4B AU NM_003866 exon3 c.57362-99C>T 0.872204 0.9345 Uncertain 4_143029391_A->G 4 143029391 143029391 A G snp 742.77 1/1 54 24 0 24 1.0 intronic rs17383664 INPP4B AU NM_003866 exon4 c.79409+48A>G 0.102236 0.0744 0.105670 0.1332 0.0581 Uncertain 4_143033778_T->C 4 143033778 143033778 T C snp 4665.77 1/1 99 171 0 171 1.0 exonic rs3822141 INPP4B AU synonymous SNV NM_001101669 exon22 c.A2193G p.L731L 0.0748802 0.0764 0.054360 0.0816 0.0598 Uncertain 4_143043404_C->T 4 143043404 143043404 C T snp 4931.77 1/1 99 176 0 176 1.0 splicing rs13133767 INPP4B AU NM_003866 exon6 c.93464+6C>T 0.100839 0.0754 0.105720 0.1276 0.0581 Pathogenic 4_143044666_A->C 4 143044666 143044666 A C snp 222.84 1/1 18 6 0 6 1.0 intronic rs2645786 INPP4B AU NM_003866 exon7 c.94634+98A>C 0.947484 1 Uncertain 4_143045599_G->A 4 143045599 143045599 G A snp 1116.77 1/1 84 29 0 29 1.0 intronic rs978752 INPP4B AU NM_003866 exon8 c.95806-141G>A 0.198682 0.125 Uncertain 4_143066884_A->G 4 143066884 143066884 A G snp 77.77 0/1 99 7 3 4 0.57 intronic rs17646914 INPP4B AU NM_003866 exon9 c.117058-108A>G 0.0936502 0.0585 Uncertain 4_143067054_G->A 4 143067054 143067054 G A snp 1618.77 0/1 99 134 63 71 0.53 exonic rs35390852 INPP4B AU synonymous SNV NM_001101669 exon18 c.C1659T p.G553G 0.0958466 0.0615 0.091266 0.1182 0.0626 Uncertain 4_143114482_T->C 4 143114482 143114482 T C snp 610.77 0/1 99 43 22 21 0.49 intronic rs992256 INPP4B AU NM_003866 exon12 c.164414+134T>C 0.101038 0.1806 Uncertain 4_143114548_A->G 4 143114548 143114548 A G snp 114.78 0/1 27 5 1 4 0.8 intronic rs992257 INPP4B AU NM_003866 exon12 c.164414+200A>G 0.615216 0.7619 Uncertain 4_143114556_A->G 4 143114556 143114556 A G snp 99.28 1/1 9 3 0 3 1.0 intronic rs2636662 INPP4B AU NM_003866 exon12 c.164414+208A>G Uncertain 4_143114558_G->A 4 143114558 143114558 G A snp 99.28 1/1 9 3 0 3 1.0 intronic rs2636663 INPP4B AU NM_003866 exon12 c.164414+210G>A 0.866214 0.9683 Uncertain 4_143130034_A->T 4 143130034 143130034 A T snp 2529.77 1/1 99 94 0 94 1.0 intronic rs1907123 INPP4B AU NM_003866 exon14 c.180114-14A>T 0.903355 0.9683 0.901507 0.9301 0.9542 Uncertain 4_143181484_G->A 4 143181484 143181484 G A snp 139.03 1/1 12 4 0 4 1.0 intronic rs2636642 INPP4B AU NM_003866 exon16 c.231710-160G>A 0.779752 0.9504 Uncertain 4_143181748_T->- 4 143181748 143181748 T - indel 403.73 1/1 48 21 0 21 1.0 intronic rs397995619 INPP4B AU NM_003866 exon16 c.231783+31delT 0.417732 0.4821 0.806022 0.4597 0.5162 Uncertain 4_143226496_A->C 4 143226496 143226496 A C snp 538.77 0/1 99 25 7 18 0.72 intronic rs17015882 INPP4B AU NM_003866 exon18 c.276676-114A>C 0.10024 0.0804 Uncertain 4_143235865_C->G 4 143235865 143235865 C G snp 862.77 0/1 99 86 49 37 0.43 exonic rs3756122 INPP4B AU synonymous SNV NM_001101669 exon8 c.G423C p.G141G 0.199481 0.4623 0.088421 0.1844 0.4995 Uncertain 4_143268702_A->G 4 143268702 143268702 A G snp 451.77 0/1 99 58 35 23 0.4 intronic rs1908968 INPP4B AU NM_003866 exon19 c.285981+32787A>G 0.253195 0.4524 0.2898 0.4318 Uncertain 4_143305002_G->T 4 143305002 143305002 G T snp 48.74 1/1 6 2 0 2 1.0 intronic rs11930321 INPP4B AU NM_003866 exon20 c.374156-19088G>T 0.188498 0.1548 Uncertain 4_143305189_A->T 4 143305189 143305189 A T snp 1407.77 0/1 99 120 59 61 0.51 intronic rs11944462 INPP4B AU NM_003866 exon20 c.374156-18901A>T 0.189696 0.1558 Uncertain 4_143305343_A->G 4 143305343 143305343 A G snp 552.77 0/1 99 36 17 19 0.53 intronic rs11944503 INPP4B AU NM_003866 exon20 c.374156-18747A>G 0.189497 0.1558 Uncertain 4_143324036_T->C 4 143324036 143324036 T C snp 464.77 0/1 99 33 17 16 0.48 intronic rs1982965 INPP4B AU NM_003866 exon20 c.374156-54T>C 0.546126 0.7034 Uncertain 4_143326312_-->AGAGAG 4 143326312 143326312 - AGAGAG indel 935.73 0/1 99 27 14 13 0.48 intronic rs150473961 INPP4B AU NM_003866 exon21 c.376424-46insAGAGAG 0.2450 0.3533 Uncertain 4_144108907_G->T 4 144108907 144108907 G T snp 39.77 0/1 68 29 25 4 0.14 intronic USP38 AU NM_032557 exon2 c.2375-71G>T Uncertain 4_144124492_G->A 4 144124492 144124492 G A snp 407.77 0/1 99 36 20 16 0.44 intronic rs4234886 USP38 AU NM_032557 exon5 c.17957-68G>A 0.605631 0.8115 Uncertain 4_144135718_G->A 4 144135718 144135718 G A snp 2030.77 0/1 99 173 90 83 0.48 exonic rs4285045 USP38 AU synonymous SNV NM_001290325 exon9 c.G2589A p.R863R 0.726837 0.8194 0.722128 0.6893 0.8509 Uncertain 4_144136193_T->G 4 144136193 144136193 T G snp 31.77 0/1 60 7 5 2 0.29 UTR3 rs10000911 USP38 AU 0.72484 0.8185 0.7104 0.8455 Uncertain 4_144264722_T->C 4 144264722 144264722 T C snp 3510.77 1/1 99 141 2 139 0.99 intronic rs300919 GAB1 AU NM_002039 exon1 c.72+6309T>C 0.476038 0.747 0.4753 0.7353 Uncertain 4_144442611_T->C 4 144442611 144442611 T C snp 1371.77 0/1 99 110 50 60 0.55 exonic rs11100790 SMARCA5 AU synonymous SNV NM_003601 exon3 c.T282C p.Y94Y 0.292133 0.6052 0.201292 0.2275 0.6106 Uncertain 4_144442735_C->T 4 144442735 144442735 C T snp 1206.77 0/1 99 119 67 52 0.44 exonic rs11541117 SMARCA5 AU synonymous SNV NM_003601 exon3 c.C406T p.L136L 0.519768 0.744 0.456174 0.4613 0.7369 Uncertain 4_144445789_C->T 4 144445789 144445789 C T snp 61.77 0/1 90 10 7 3 0.3 intronic rs6857360 SMARCA5 AU NM_003601 exon4 c.10543+169C>T 0.522364 0.754 Uncertain 4_144446519_C->G 4 144446519 144446519 C G snp 1299.77 0/1 99 80 33 47 0.59 intronic rs2292362 SMARCA5 AU NM_003601 exon5 c.11526-84C>G 0.291933 0.6042 Uncertain 4_144447630_T->C 4 144447630 144447630 T C snp 732.77 0/1 99 54 24 30 0.56 intronic rs7694156 SMARCA5 AU NM_003601 exon6 c.12536+17T>C 0.477636 0.246 0.543679 0.5397 0.2523 Uncertain 4_144456124_A->G 4 144456124 144456124 A G snp 3129.77 1/1 99 116 0 116 1.0 intronic rs6818251 SMARCA5 AU NM_003601 exon10 c.21040+7A>G 0.974441 1 0.975627 0.9934 1 Uncertain 4_144459637_T->C 4 144459637 144459637 T C snp 35.77 0/1 64 8 6 2 0.25 intronic rs4690724 SMARCA5 AU NM_003601 exon12 c.24665-105T>C 0.490815 0.246 Uncertain 4_144466050_A->G 4 144466050 144466050 A G snp 764.77 0/1 99 59 28 31 0.53 intronic rs7692376 SMARCA5 AU NM_003601 exon17 c.30923+50A>G 0.477835 0.246 0.545252 0.5457 0.2607 Uncertain 4_144467104_T->C 4 144467104 144467104 T C snp 1762.77 1/1 99 68 0 68 1.0 exonic rs13139128 SMARCA5 AU synonymous SNV NM_003601 exon19 c.T2424C p.N808N 0.990415 1 0.994387 0.9982 1 Uncertain 4_144469383_A->G 4 144469383 144469383 A G snp 472.77 0/1 99 33 17 16 0.48 intronic rs2088415 SMARCA5 AU NM_003601 exon22 c.34216+90A>G 0.480232 0.246 Uncertain 4_144471460_T->C 4 144471460 144471460 T C snp 50.74 1/1 6 3 0 3 1.0 intronic rs6810805 SMARCA5 AU NM_003601 exon23 c.36180+203T>C 0.496006 0.754 Uncertain 4_144618610_G->C 4 144618610 144618610 G C snp 4163.77 1/1 99 148 0 148 1.0 exonic rs1034494 FREM3 AU nonsynonymous SNV NM_001168235 exon1 c.C3219G p.F1073L 0.97504 1 0.983136 0.9940 1 0.82 T 0.0 P -1.018 T Pathogenic 4_144794616_C->T 4 144794616 144794616 C T snp 827.77 0/1 99 84 45 39 0.46 intergenic rs66570349 FREM3 AU 0.271565 0.3522 0.2929 0.3864 Uncertain 4_144796495_T->G 4 144796495 144796495 T G snp 71.77 0/1 30 5 1 4 0.8 UTR3 rs4835058 GYPE AU 0.45647 0.6071 Uncertain 4_144797848_G->T 4 144797848 144797848 G T snp 511.77 0/1 99 42 20 22 0.52 intronic rs6537203 GYPE AU 0.280751 0.3532 Uncertain 4_144799840_G->A 4 144799840 144799840 G A snp 1196.77 0/1 99 97 48 49 0.51 intronic rs3775246 GYPE AU NM_198682 exon3 c.3656-1723G>A 0.282149 0.3591 0.4012 0.5326 Uncertain 4_144801510_G->A 4 144801510 144801510 G A snp 662.77 0/1 99 127 96 31 0.24 intronic rs199587133 GYPE AU NM_198682 exon3 c.3656-53G>A Uncertain 4_144801522_C->T 4 144801522 144801522 C T snp 1245.77 0/1 99 172 120 52 0.3 intronic rs200725864 GYPE AU NM_198682 exon3 c.3656-41C>T 0.1380 0.1333 Uncertain 4_144801662_C->G 4 144801662 144801662 C G snp 7042.77 ./1 99 236 0 236 1.0 exonic rs1132785 GYPE AU nonsynonymous SNV NM_002102 exon2 c.G38C p.G13A 0.308906 0.3542 0.3417 0.3841 0.4 T 1 N -0.938 T 0.015 T 0.003 T Pathogenic 4_144801662_C->T 4 144801662 144801662 C T snp 7042.77 ./1 99 236 0 236 1.0 exonic rs1132785 GYPE AU nonsynonymous SNV NM_002102 exon2 c.G38A p.G13E 0.532947 0.6062 0.4329 0.5770 1 T 0.0 P -0.982 T 0.003 T 0.001 T Pathogenic 4_144801671_A->C 4 144801671 144801671 A C snp 1060.77 0/1 99 234 188 46 0.2 intronic rs146400730 GYPE AU NM_198682 exon3 c.3755+9A>C 0.3460 0.3433 Uncertain 4_144801728_C->T 4 144801728 144801728 C T snp 2108.77 0/1 99 159 86 73 0.46 intronic rs201075956 GYPE AU NM_198682 exon3 c.3755+66C>T Uncertain 4_144801729_A->G 4 144801729 144801729 A G snp 2007.77 0/1 99 156 84 72 0.46 intronic rs201847905 GYPE AU NM_198682 exon3 c.3755+67A>G Uncertain 4_144801779_G->A 4 144801779 144801779 G A snp 342.77 0/1 99 28 16 12 0.43 intronic rs7677044 GYPE AU NM_198682 exon3 c.3755+117G>A 0.454473 0.6022 Uncertain 4_144801798_C->G 4 144801798 144801798 C G snp 100.77 0/1 99 9 5 4 0.44 intronic rs2305066 GYPE AU NM_198682 exon3 c.3755+136C>G 0.164337 0.1766 Uncertain 4_144802964_T->C 4 144802964 144802964 T C snp 1062.77 0/1 99 63 24 39 0.62 intronic rs6824687 GYPE AU NM_198682 exon3 c.3755+1302T>C 0.282149 0.3571 Uncertain 4_144803130_A->G 4 144803130 144803130 A G snp 726.77 0/1 99 82 50 32 0.39 intronic rs6819885 GYPE AU NM_198682 exon3 c.3755+1468A>G Uncertain 4_144809800_C->A 4 144809800 144809800 C A snp 6551.77 1/1 99 247 0 247 1.0 intronic rs143390057 GYPE AU NM_198682 exon3 c.3755+8138C>A 0.724641 0.9583 Uncertain 4_144811428_A->G 4 144811428 144811428 A G snp 647.77 1/1 48 22 0 22 1.0 intronic rs4095436 GYPE AU NM_198682 exon3 c.3755+9766A>G 0.918331 0.999 Uncertain 4_144811470_A->G 4 144811470 144811470 A G snp 54.74 1/1 6 2 0 2 1.0 intronic rs4095435 GYPE AU NM_198682 exon3 c.3755+9808A>G 0.919129 1 Uncertain 4_144824194_T->C 4 144824194 144824194 T C snp 1808.77 0/1 99 250 153 97 0.39 intronic rs4091836 GYPE AU NM_198682 exon4 c.28716-2429T>C Uncertain 4_144824235_C->T 4 144824235 144824235 C T snp 495.77 0/1 99 238 194 44 0.18 intronic rs79701609 GYPE AU NM_198682 exon4 c.28716-2388C>T Uncertain 4_144824269_C->T 4 144824269 144824269 C T snp 6027.77 1/1 99 208 0 208 1.0 intronic rs1899967 GYPE AU NM_198682 exon4 c.28716-2354C>T 0.961062 1 Uncertain 4_144824273_C->T 4 144824273 144824273 C T snp 3442.77 0/1 99 204 77 127 0.62 intronic rs6818201 GYPE AU NM_198682 exon4 c.28716-2350C>T 0.961062 1 Uncertain 4_144824308_T->C 4 144824308 144824308 T C snp 1032.77 0/1 99 153 102 51 0.33 intronic rs202179013 GYPE AU NM_198682 exon4 c.28716-2315T>C Uncertain 4_144824309_G->C 4 144824309 144824309 G C snp 1004.77 0/1 99 149 100 49 0.33 intronic rs200279081 GYPE AU NM_198682 exon4 c.28716-2314G>C Uncertain 4_144824346_T->G 4 144824346 144824346 T G snp 335.77 0/1 99 40 26 14 0.35 intronic rs4091835 GYPE AU NM_198682 exon4 c.28716-2277T>G Uncertain 4_144917514_A->C 4 144917514 144917514 A C snp 1802.77 1/1 90 75 1 74 0.99 intronic rs1980037 GYPB AU NM_001304382 exon1 c.6+57A>C 0.959265 1 0.967558 Uncertain 4_144917616_T->C 4 144917616 144917616 T C snp 433.77 1/1 33 11 0 11 1.0 intronic rs6537238 GYPB AU NM_001304382 exon1 c.6+159T>C 0.72504 0.9583 Uncertain 4_144918712_C->G 4 144918712 144918712 C G snp 1192.77 0/1 99 72 30 42 0.58 exonic rs1132783 GYPB AU nonsynonymous SNV NM_002100 exon4 c.G251C p.S84T 0.176118 0.2054 0.177834 0.2190 0.1973 0.57 T 0.0 P -0.913 T 0.024 T 0.01 T Pathogenic 4_144918867_A->G 4 144918867 144918867 A G snp 3581.77 1/1 99 127 0 127 1.0 intronic rs1473055 GYPB AU NM_001304382 exon2 c.1336+80A>G 0.72504 0.9583 Uncertain 4_144918893_A->G 4 144918893 144918893 A G snp 2586.77 1/1 99 81 0 81 1.0 intronic rs4835126 GYPB AU NM_001304382 exon2 c.1336+106A>G 0.726837 0.9583 Uncertain 4_144918900_G->A 4 144918900 144918900 G A snp 2536.77 1/1 99 77 0 77 1.0 intronic rs1849110 GYPB AU NM_001304382 exon2 c.1336+113G>A 0.972244 1 Uncertain 4_144921607_C->T 4 144921607 144921607 C T snp 1728.77 1/1 99 62 0 62 1.0 intronic rs1849119 GYPB AU NM_001304382 exon4 c.4886-730C>T 0.953474 1 Uncertain 4_144922549_G->A 4 144922549 144922549 G A snp 600.77 0/1 99 39 20 19 0.49 intronic rs6537239 GYPB AU NM_001304382 exon4 c.4985+113G>A 0.320487 0.5456 Uncertain 4_144938033_-->T 4 144938033 144938033 - T indel 526.73 1/1 42 18 0 18 1.0 intronic rs397939946 GYPB AU NM_001304382 exon5 c.20583-1insT 0.448682 0.3591 0 0 Uncertain 4_144938081_C->T 4 144938081 144938081 C T snp 81.28 1/1 9 42 0 42 1.0 intronic rs28373876 GYPB AU NM_001304382 exon5 c.20583+47C>T 0.840455 0.8393 0.5274 0.2143 Uncertain 4_145037980_C->G 4 145037980 145037980 C G snp 174.9 1/1 15 6 0 6 1.0 intronic rs6824244 GYPA AU NM_002099 exon3 c.5460-26C>G 0.999401 1 0.999385 0.9998 1 Uncertain 4_145039687_A->C 4 145039687 145039687 A C snp 69.77 0/1 98 8 5 3 0.38 intronic rs187630975 GYPA AU NM_002099 exon4 c.7320-179A>C 0.0091853 Uncertain 4_145040784_T->C 4 145040784 145040784 T C snp 1549.77 0/1 99 110 46 64 0.58 intronic rs62334651 GYPA AU NM_002099 exon5 c.8292-54T>C 0.402556 0.4653 Uncertain 4_145040962_C->G 4 145040962 145040962 C G snp 1519.77 1/1 99 47 0 47 1.0 intronic rs6857144 GYPA AU NM_002099 exon5 c.8388+28C>G 0.902955 0.9821 0.884746 0.9632 0.9780 Uncertain 4_145040963_A->T 4 145040963 145040963 A T snp 1512.77 1/1 99 47 0 47 1.0 intronic rs6833563 GYPA AU NM_002099 exon5 c.8388+29A>T 0.902756 0.9821 0.886975 0.9633 0.9780 Uncertain 4_145040999_T->C 4 145040999 145040999 T C snp 409.77 0/1 99 26 10 16 0.62 intronic rs62334652 GYPA AU NM_002099 exon5 c.8388+65T>C 0.359225 0.4623 Uncertain 4_145041012_C->- 4 145041012 145041012 C - indel 414.73 0/1 99 17 5 12 0.71 intronic rs70953778 GYPA AU NM_002099 exon5 c.8388+78delC 0.352436 0.4593 Uncertain 4_145041036_G->A 4 145041036 145041036 G A snp 152.77 0/1 61 7 2 5 0.71 intronic rs62334653 GYPA AU NM_002099 exon5 c.8388+102G>A Uncertain 4_145041686_A->G 4 145041686 145041686 A G snp 1243.77 1/1 96 45 0 45 1.0 exonic rs4867 GYPA AU synonymous SNV NM_002099 exon2 c.T93C p.T31T 0.871406 0.9772 0.849745 0.9455 0.9673 Uncertain 4_145041707_C->A 4 145041707 145041707 C A snp 1034.77 1/1 84 35 0 35 1.0 exonic rs7658293 GYPA AU nonsynonymous SNV NM_002099 exon2 c.G72T p.E24D 0.200479 0.2371 0.0004 0.0002 0.5 T 0.000 P -0.951 T 0.61 T 0.197 P ID=COSM3683233;OCCURENCE=2(thyroid) Pathogenic 4_145041708_T->C 4 145041708 145041708 T C snp 1068.77 1/1 87 36 0 36 1.0 exonic rs7687256 GYPA AU nonsynonymous SNV NM_002099 exon2 c.A71G p.E24G 0.206869 0.2371 0.0005 0.0002 0.62 T 0.000 P -0.921 T 0.002 T 0.003 T ID=COSM3683234;OCCURENCE=2(thyroid) Pathogenic 4_145041720_A->G 4 145041720 145041720 A G snp 987.77 1/1 81 34 0 34 1.0 exonic rs7682260 GYPA AU nonsynonymous SNV NM_002099 exon2 c.T59C p.L20S 0.285144 0.3125 0.217398 0.0636 0.0380 0.07 T 0.000 P -0.918 T 0.0 T 0.001 T Pathogenic 4_145041741_T->G 4 145041741 145041741 T G snp 672.77 1/1 54 27 0 27 1.0 exonic rs4449373 GYPA AU nonsynonymous SNV NM_002099 exon2 c.A38C p.E13A 0.8752 0.9712 0.8706 0.8670 0.65 T 0.001 P -0.977 T 0.0 T 0.0 T Pathogenic 4_145041750_A->C 4 145041750 145041750 A C snp 524.77 0/1 75 30 5 25 0.83 intronic rs45468202 GYPA AU NM_002099 exon6 c.9195+9A>C 0.3476 0.3153 Uncertain 4_145050148_A->T 4 145050148 145050148 A T snp 1470.77 0/1 99 108 51 57 0.53 intronic rs192844961 GYPA AU NM_002099 exon6 c.9195+8407A>T 0.0183706 Uncertain 4_145050285_A->G 4 145050285 145050285 A G snp 3487.77 0/1 99 239 100 139 0.58 intronic rs11931075 GYPA AU NM_002099 exon6 c.9195+8544A>G 0.0183706 0.031740 0.0230 0 Uncertain 4_145050369_G->T 4 145050369 145050369 G T snp 1991.77 0/1 99 120 50 70 0.58 intronic rs11935365 GYPA AU NM_002099 exon6 c.9195+8628G>T 0.0183706 Uncertain 4_145059392_G->A 4 145059392 145059392 G A snp 2368.77 0/1 99 249 141 108 0.43 intronic rs141638999 GYPA AU NM_002099 exon7 c.29205-2359G>A 0.0127796 0.001 0.0295 0 Uncertain 4_145573955_A->- 4 145573955 145573955 A - indel 852.73 0/1 99 69 28 41 0.59 splicing rs3215015 HHIP AU NM_022475 exon2 c.6122+6delA 0.211062 0.1558 0.315102 0.3014 0.1553 Pathogenic 4_145579907_G->A 4 145579907 145579907 G A snp 956.77 0/1 99 76 40 36 0.47 intronic rs6537301 HHIP AU NM_022475 exon3 c.12114-34G>A 0.599641 0.4494 0.555359 0.5629 0.4192 Uncertain 4_145629630_A->T 4 145629630 145629630 A T snp 54.74 1/1 6 2 0 2 1.0 intronic rs2254637 HHIP AU NM_022475 exon7 c.61636+167A>T 0.988019 1 Uncertain 4_145636732_T->C 4 145636732 145636732 T C snp 46.77 0/1 33 3 1 2 0.67 intronic rs6537310 HHIP AU NM_022475 exon10 c.68755+150T>C 0.578275 0.4464 Uncertain 4_146046138_T->C 4 146046138 146046138 T C snp 505.77 1/1 39 19 3 16 0.84 splicing rs4835203 ABCE1 AU NM_002940 exon17 c.20577-3T>C 0.986222 0.999 0.986428 0.9960 0.9993 Pathogenic 4_146048554_T->C 4 146048554 146048554 T C snp 895.77 0/1 99 81 40 41 0.51 intronic rs4148234 ABCE1 AU NM_002940 exon18 c.23113-123T>C 0.201677 0.1349 Uncertain 4_146048583_T->G 4 146048583 146048583 T G snp 2430.77 1/1 99 92 0 92 1.0 intronic rs1378314 ABCE1 AU NM_002940 exon18 c.23113-94T>G 0.986422 1 Uncertain 4_146065006_C->T 4 146065006 146065006 C T snp 1180.77 1/1 87 36 0 36 1.0 intronic rs9991890 OTUD4 AU NM_001102653 exon6 c.6516-91C>T 0.98722 1 Uncertain 4_146073850_C->T 4 146073850 146073850 C T snp 427.77 0/1 99 37 19 18 0.49 intronic rs12501862 OTUD4 AU NM_001102653 exon11 c.15206+63C>T 0.286142 0.4683 Uncertain 4_146076633_A->- 4 146076633 146076633 A - indel 738.73 0/1 99 67 26 41 0.61 splicing rs36225839 OTUD4 AU NM_001102653 exon12 c.18046+6delA 0.366014 0.4722 0.259747 0.3204 0.4987 Pathogenic 4_146086269_C->T 4 146086269 146086269 C T snp 142.77 0/1 99 25 17 8 0.32 intronic rs17726651 OTUD4 AU NM_001102653 exon18 c.27721-33C>T 0.204073 0.1429 0.267786 0.3203 0.1734 Uncertain 4_146617590_T->C 4 146617590 146617590 T C snp 190.77 0/1 99 10 4 6 0.6 intronic rs13104422 C4orf51 AU NM_001080531 exon2 c.16355-120T>C 0.602037 0.498 Uncertain 4_146686396_C->G 4 146686396 146686396 C G snp 754.77 1/1 57 22 0 22 1.0 intronic rs76846242 ZNF827 AU NM_178835 exon3 c.182+79C>G 0.305312 0.6647 Uncertain 4_146686414_C->T 4 146686414 146686414 C T snp 470.77 1/1 39 13 0 13 1.0 intronic rs79822587 ZNF827 AU NM_178835 exon3 c.182+97C>T 0.305112 0.6647 Uncertain 4_146770400_T->A 4 146770400 146770400 T A snp 370.77 0/1 99 26 11 15 0.58 intronic rs28497499 ZNF827 AU NM_178835 exon10 c.84338-73T>A 0.420927 0.8085 Uncertain 4_146806763_AG->- 4 146806763 146806764 AG - indel 314.73 1/1 33 12 0 12 1.0 intronic ZNF827 AU NM_178835 exon12 c.120694-66_120694-65delAG Uncertain 4_147145574_C->A 4 147145574 147145574 C A snp 1006.77 1/1 72 37 0 37 1.0 intergenic rs17021257 LSM6 AU 0.0712859 0.124 Uncertain 4_147150481_C->T 4 147150481 147150481 C T snp 48.74 1/1 6 2 0 2 1.0 intergenic rs17021264 LSM6 AU 0.345048 0.2877 Uncertain 4_147177822_A->G 4 147177822 147177822 A G snp 2679.77 1/1 99 95 0 95 1.0 intronic rs28406249 SLC10A7 AU NM_001029998 exon1 c.30+150A>G 0.490415 0.2629 Uncertain 4_147177865_A->T 4 147177865 147177865 A T snp 527.77 0/1 99 43 25 18 0.42 intronic rs58191358 SLC10A7 AU NM_001029998 exon1 c.30+193A>T 0.303714 0.1577 Uncertain 4_147177868_-->C 4 147177868 147177868 - C indel 1343.73 1/1 99 42 0 42 1.0 intronic rs34063596 SLC10A7 AU NM_001029998 exon1 c.30+196insC 0.603435 0.5526 Uncertain 4_147204535_T->C 4 147204535 147204535 T C snp 318.77 0/1 99 21 9 12 0.57 intronic rs13435691 SLC10A7 AU NM_001300842 exon4 c.26413+118T>C 0.10643 0.0873 Uncertain 4_147213912_T->C 4 147213912 147213912 T C snp 212.84 1/1 18 6 0 6 1.0 intronic rs4516736 SLC10A7 AU NM_001300842 exon5 c.36076-168T>C 0.870407 0.9067 Uncertain 4_147214029_C->A 4 147214029 147214029 C A snp 454.77 0/1 99 44 23 21 0.48 intronic rs12711434 SLC10A7 AU NM_001300842 exon5 c.36076-51C>A 0.53095 0.5685 0.461897 Uncertain 4_147364052_C->T 4 147364052 147364052 C T snp 223.77 0/1 99 24 12 12 0.5 intronic rs1344140 SLC10A7 AU NM_032128 exon1 c.84+79C>T 0.241613 0.2262 Uncertain 4_147425114_A->T 4 147425114 147425114 A T snp 1923.77 1/1 99 64 0 64 1.0 intronic rs7439061 SLC10A7 AU NM_032128 exon2 c.61187+38A>T 0.912939 0.999 0.800308 0.8409 0.9992 Uncertain 4_147431302_G->A 4 147431302 147431302 G A snp 387.77 1/1 30 11 0 11 1.0 intronic rs6816737 SLC10A7 AU NM_032128 exon3 c.67312+101G>A 0.860423 0.9573 Uncertain 4_147438019_T->C 4 147438019 147438019 T C snp 203.9 0/1 15 7 1 6 0.86 intronic rs3914628 SLC10A7 AU NM_032128 exon4 c.74300-170T>C 0.11861 0.1012 Uncertain 4_147560457_-->GGC 4 147560457 147560457 - GGC indel 1346.73 0/1 99 118 33 85 0.72 exonic rs530695040 POU4F2 AU nonframeshift insertion NM_004575 exon1 c.165_166insGGC p.G55delinsGG 0.1274 0.0321 Uncertain 4_147560692_T->A 4 147560692 147560692 T A snp 554.77 0/1 99 57 34 23 0.4 intronic rs1504360 POU4F2 AU NM_004575 exon1 c.288+112T>A 0.654952 0.7133 Uncertain 4_147628903_C->T 4 147628903 147628903 C T snp 48.74 1/1 6 2 0 2 1.0 intronic rs905712 TTC29 AU NM_031956 exon2 c.394+200C>T 1 1 Uncertain 4_147724590_C->G 4 147724590 147724590 C G snp 663.77 0/1 99 50 25 25 0.5 intronic rs12506936 TTC29 AU NM_031956 exon3 c.96299-18C>G 0.0642971 0.0476 0.046603 0.1010 0.1841 Uncertain 4_147754939_T->C 4 147754939 147754939 T C snp 2337.77 0/1 99 198 99 99 0.5 intronic rs12506386 TTC29 AU NM_031956 exon5 c.126648-18T>C 0.0662939 0.0476 0.050295 0.0717 0.0844 Uncertain 4_147775092_T->C 4 147775092 147775092 T C snp 226.77 0/1 99 28 15 13 0.46 intronic rs68011593 TTC29 AU NM_031956 exon6 c.160340-13557T>C 0.136781 0.1776 Uncertain 4_147788728_G->A 4 147788728 147788728 G A snp 607.77 0/1 99 66 34 32 0.48 exonic rs35231662 TTC29 AU synonymous SNV NM_031956 exon8 c.C807T p.D269D 0.0623003 0.0506 0.047360 0.0960 0.1261 Uncertain 4_147788862_A->C 4 147788862 147788862 A C snp 93.28 1/1 9 3 0 3 1.0 intronic rs60402156 TTC29 AU NM_031956 exon6 c.160426+127A>C 0.0623003 0.0506 Uncertain 4_147824864_G->A 4 147824864 147824864 G A snp 959.77 0/1 99 104 62 42 0.4 exonic rs17610219 TTC29 AU nonsynonymous SNV NM_031956 exon6 c.C418T p.H140Y 0.548123 0.5526 0.435703 0.4819 0.5549 1 T 0.0 P -0.940 T 0.0 T 0.0 T Pathogenic 4_147824961_A->G 4 147824961 147824961 A G snp 41.77 0/1 70 4 2 2 0.5 intronic rs17656364 TTC29 AU NM_031956 exon8 c.196572+80A>G 0.0636981 0.0516 Uncertain 4_147863829_G->A 4 147863829 147863829 G A snp 380.77 0/1 99 34 18 16 0.47 UTR5 rs35788629 TTC29 AU 0.115615 0.1677 0.1204 0.1465 Uncertain 4_148463840_G->C 4 148463840 148463840 G C snp 1431.77 0/1 99 118 53 65 0.55 UTR3 rs5335 EDNRA AD 0.576278 0.4663 ID=CR105433;DIS=Reduced pulmonary function, in cystic fibrosis, association with;TAG=DP;PUB=20028935 DP Uncertain 4_148560357_C->T 4 148560357 148560357 C T snp 339.78 1/1 27 9 0 9 1.0 intronic rs2654935 PRMT9 AU NM_001304458 exon2 c.551+124C>T 1 1 Uncertain 4_148589677_C->T 4 148589677 148589677 C T snp 3227.04 1/1 99 116 0 116 1.0 intronic rs2718454 PRMT9 AU NM_001304458 exon7 c.30007-12C>T 0.804912 0.7649 0.853045 0.9240 0.7600 Uncertain 4_148591769_G->T 4 148591769 148591769 G T snp 3854.77 1/1 99 144 0 144 1.0 intronic rs2036502 PRMT9 AU NM_001304458 exon8 c.32109-22G>T 0.979034 1 0.978164 0.9939 1 Uncertain 4_148601729_C->T 4 148601729 148601729 C T snp 182.9 1/1 15 5 0 5 1.0 intronic rs7666065 PRMT9 AU NM_138364 exon11 c.41940+107C>T 0.804912 0.7649 Uncertain 4_148778685_-->T 4 148778685 148778685 - T indel 404.73 1/1 48 16 0 16 1.0 intronic rs11410393 ARHGAP10 AU NM_024605 exon5 c.125251-18insT 0.628395 0.6915 0.661148 0.7372 0.6970 Uncertain 4_148787669_G->A 4 148787669 148787669 G A snp 54.74 1/1 6 2 0 2 1.0 intronic rs4240341 ARHGAP10 AU NM_024605 exon7 c.134410-193G>A 0.686901 0.6984 Uncertain 4_148796464_C->G 4 148796464 148796464 C G snp 975.77 1/1 72 30 0 30 1.0 intronic rs7663294 ARHGAP10 AU NM_024605 exon8 c.142849+163C>G 0.788738 0.9544 Uncertain 4_148800299_A->G 4 148800299 148800299 A G snp 3746.77 1/1 99 124 0 124 1.0 intronic rs13147854 ARHGAP10 AU NM_024605 exon9 c.146930-83A>G 0.920727 0.9831 Uncertain 4_148827697_-->A 4 148827697 148827697 - A indel 970.73 1/1 85 41 1 40 0.98 intronic rs35780665 ARHGAP10 AU NM_024605 exon11 c.174336-91insA 0.615415 0.5962 Uncertain 4_148827747_A->C 4 148827747 148827747 A C snp 2316.77 1/1 99 78 0 78 1.0 intronic rs12509618 ARHGAP10 AU NM_024605 exon11 c.174336-41A>C 0.610224 0.6538 0.693603 0.8018 0.6346 Uncertain 4_148827973_A->G 4 148827973 148827973 A G snp 678.77 1/1 51 20 0 20 1.0 intronic rs11099672 ARHGAP10 AU NM_024605 exon11 c.174418+103A>G 0.688299 0.6587 Uncertain 4_148828034_A->G 4 148828034 148828034 A G snp 96.28 1/1 9 3 0 3 1.0 intronic rs11734553 ARHGAP10 AU NM_024605 exon11 c.174418+164A>G 0.610224 0.6538 Uncertain 4_148831070_A->G 4 148831070 148831070 A G snp 1586.77 1/1 99 53 0 53 1.0 intronic rs4627844 ARHGAP10 AU NM_024605 exon12 c.177476+142A>G 0.610623 0.6538 Uncertain 4_148888111_G->A 4 148888111 148888111 G A snp 83.77 0/1 28 4 1 3 0.75 intronic rs57437177 ARHGAP10 AU NM_024605 exon18 c.234538+121G>A 0.252196 0.0962 Uncertain 4_148968289_G->A 4 148968289 148968289 G A snp 277.77 0/1 99 27 17 10 0.37 intronic rs370953344 ARHGAP10 AU NM_024605 exon20 c.314750+87G>A Uncertain 4_148985720_T->C 4 148985720 148985720 T C snp 1565.77 0/1 99 142 73 69 0.49 intronic rs3775327 ARHGAP10 AU NM_024605 exon22 c.332206+62T>C 0.715256 0.8442 Uncertain 4_149035449_T->C 4 149035449 149035449 T C snp 913.77 0/1 99 108 67 41 0.38 intronic rs1879829 NR3C2 AU,AD NM_001166104 exon2 c.32918+37T>C 0.509185 0.6776 0.448485 0.4872 0.6756 Uncertain 4_149073555_C->T 4 149073555 149073555 C T snp 472.77 1/1 36 14 0 14 1.0 intronic rs2272089 NR3C2 AU,AD NM_001166104 exon4 c.71125-64C>T 0.731629 0.7649 Uncertain 4_149075970_T->G 4 149075970 149075970 T G snp 47.77 0/1 76 19 14 5 0.26 exonic rs780645360 NR3C2 AU,AD synonymous SNV NM_000901 exon5 c.A2097C p.P699P 0.0003 0 Uncertain 4_149116035_A->G 4 149116035 149116035 A G snp 435.77 1/1 33 17 0 17 1.0 intronic rs4835500 NR3C2 AU,AD NM_001166104 exon5 c.113519+22A>G 0.611222 0.7698 0.530471 0.5758 0.7545 Uncertain 4_149181431_T->G 4 149181431 149181431 T G snp 96.28 1/1 9 3 0 3 1.0 intronic rs12498662 NR3C2 AU,AD NM_001166104 exon6 c.178775+162T>G 0.218051 0.2183 Uncertain 4_149356516_A->G 4 149356516 149356516 A G snp 4258.77 1/1 99 149 0 149 1.0 exonic rs5525 NR3C2 AU,AD synonymous SNV NM_000901 exon2 c.T1497C p.D499D 0.891973 0.8542 0.898124 0.8819 0.8567 Uncertain 4_149357475_C->T 4 149357475 149357475 C T snp 6403.77 1/1 99 214 0 214 1.0 exonic rs5522 NR3C2 AU,AD nonsynonymous SNV NM_000901 exon2 c.G538A p.V180I 0.891973 0.8542 0.897586 0.8812 0.8561 0.0 P -1.005 T 0.001 T 0.001 T ID=CM030066;DIS=Reduced expression;TAG=DFP;PUB=12483305 DFP Pathogenic 4_149358014_G->C 4 149358014 149358014 G C snp 653.77 0/1 99 52 26 26 0.5 UTR5 rs2070951 NR3C2 AU,AD 0.500799 0.7569 0.397432 0.5510 0.7719 ID=CR030126;DIS=Increased blood pressure, association with;TAG=DFP;PUB=20855654 DFP Uncertain 4_151119076_A->C 4 151119076 151119076 A C snp 1077.77 0/1 99 70 33 37 0.53 intronic rs13435901 DCLK2 AU NM_001040260 exon4 c.118974-77A>C 0.15615 0.1518 Uncertain 4_151120062_-->C 4 151120062 151120062 - C indel 234.73 0/1 99 60 42 18 0.3 intronic rs35851047 DCLK2 AU NM_001040261 exon5 c.120000-117insC Uncertain 4_151161342_G->A 4 151161342 151161342 G A snp 447.77 1/1 36 12 0 12 1.0 intronic rs6812795 DCLK2 AU NM_001040260 exon12 c.161371-208G>A 0.910942 0.8462 Uncertain 4_151161470_A->G 4 151161470 151161470 A G snp 1920.77 0/1 99 136 63 73 0.54 intronic rs11931842 DCLK2 AU NM_001040260 exon12 c.161371-80A>G 0.167133 0.005 Uncertain 4_151161490_T->C 4 151161490 151161490 T C snp 4823.77 1/1 99 169 0 169 1.0 intronic rs6838238 DCLK2 AU NM_001040260 exon12 c.161371-60T>C 0.945088 0.9613 0.951599 Uncertain 4_151161502_G->T 4 151161502 151161502 G T snp 4994.77 1/1 99 184 0 184 1.0 intronic rs6813035 DCLK2 AU NM_001040260 exon12 c.161371-48G>T 0.921326 0.9187 0.922420 0.9498 0.9291 Uncertain 4_151177340_C->T 4 151177340 151177340 C T snp 326.78 1/1 27 10 0 10 1.0 exonic rs13152819 DCLK2 AU nonsynonymous SNV NM_001040261 exon17 c.C2293T p.P765S 0.882788 0.7411 0.982606 0.9582 0.8539 0.96 T 0.0 P -0.915 T 0.0 T 0.0 T Pathogenic 4_151177341_C->G 4 151177341 151177341 C G snp 372.77 1/1 30 10 0 10 1.0 exonic rs13152820 DCLK2 AU nonsynonymous SNV NM_001040261 exon17 c.C2294G p.P765R 0.882788 0.7411 0.983215 0.9569 0.8481 0.67 T 0.0 P -0.975 T 0.001 T 0.006 T Pathogenic 4_151177432_A->C 4 151177432 151177432 A C snp 211.84 1/1 18 6 0 6 1.0 UTR3 rs13101258 DCLK2 AU 0.860224 0.7093 0.9324 0.7326 Uncertain 4_151199080_G->A 4 151199080 151199080 G A snp 5112.77 1/1 99 190 0 190 1.0 exonic rs2290846 LRBA AR nonsynonymous SNV NM_006726 exon57 c.C8426T p.S2809L 0.142173 0.2371 0.194987 0.2028 0.2643 0.67 T 0.869 P -1.017 T 0.226 T 0.066 T Pathogenic 4_151207127_C->T 4 151207127 151207127 C T snp 3813.77 1/1 99 143 2 141 0.99 exonic rs3749574 LRBA AR nonsynonymous SNV NM_006726 exon55 c.G8110A p.A2704T 0.162141 0.2371 0.223205 0.2773 0.3135 0.18 T 0.003 P -1.056 T 0.001 T 0.005 T Pathogenic 4_151242312_C->T 4 151242312 151242312 C T snp 5382.77 1/1 99 206 0 206 1.0 intronic rs11737450 LRBA AR NM_001199282 exon8 c.55469-30C>T 0.14397 0.2192 0.181224 0.1859 0.2411 Uncertain 4_151247236_C->T 4 151247236 151247236 C T snp 174.9 1/1 15 5 0 5 1.0 intronic rs1507191 LRBA AR NM_001199282 exon9 c.60177+186C>T 0.221046 0.2202 Uncertain 4_151356900_G->T 4 151356900 151356900 G T snp 519.77 1/1 39 16 0 16 1.0 intronic rs2271043 LRBA AR NM_001199282 exon12 c.169987+40G>T 0.15635 0.2004 0.227315 0.2355 0.2241 Uncertain 4_151357816_G->C 4 151357816 151357816 G C snp 760.77 1/1 57 20 0 20 1.0 intronic rs2292122 LRBA AR NM_001199282 exon13 c.171002-59G>C 0.156949 0.2024 Uncertain 4_151408800_T->C 4 151408800 151408800 T C snp 309.78 1/1 24 10 0 10 1.0 intronic rs7674989 LRBA AR NM_001199282 exon16 c.222010-83T>C 0.801717 0.8819 Uncertain 4_151412346_T->C 4 151412346 151412346 T C snp 99.28 1/1 9 3 0 3 1.0 intronic rs55998463 LRBA AR NM_001199282 exon17 c.225314+159T>C 0.147963 0.1617 Uncertain 4_151505322_T->A 4 151505322 151505322 T A snp 2071.77 1/1 99 75 0 75 1.0 UTR3 rs13105060 MAB21L2 AR,AD 0.632188 0.7341 Uncertain 4_151511715_T->G 4 151511715 151511715 T G snp 763.77 1/1 57 23 0 23 1.0 intronic rs4401437 LRBA AR NM_001199282 exon19 c.324991-149T>G 0.80651 0.9157 Uncertain 4_151656589_C->T 4 151656589 151656589 C T snp 2458.77 1/1 99 74 1 73 0.99 intronic rs1993109 LRBA AR NM_001199282 exon22 c.469645+71C>T 0.595447 0.6835 Uncertain 4_151719263_A->G 4 151719263 151719263 A G snp 946.77 1/1 69 39 0 39 1.0 exonic rs1129998 LRBA AR synonymous SNV NM_006726 exon34 c.T5550C p.V1850V 0.120807 0.1518 0.175077 0.1841 0.1756 1.0 P -1.019 T Likely benign 4_151765243_G->A 4 151765243 151765243 G A snp 3224.61 1/1 99 136 0 136 1.0 intronic rs186080 LRBA AR NM_001199282 exon30 c.578378-8G>A 0.752995 0.8661 0.835768 0.8569 0.8607 Uncertain 4_151829659_T->C 4 151829659 151829659 T C snp 686.77 1/1 51 21 0 21 1.0 intronic rs1201207 LRBA AR NM_001199282 exon47 c.642746+40T>C 0.959465 0.998 0.954252 0.9874 0.9995 Uncertain 4_151835258_G->T 4 151835258 151835258 G T snp 88.77 0/1 99 17 12 5 0.29 intronic rs200705535 LRBA AR NM_001199282 exon49 c.648473-88G>T Uncertain 4_151838031_C->T 4 151838031 151838031 C T snp 46.78 0/1 27 3 1 2 0.67 intronic rs140885888 LRBA AR NM_001199282 exon52 c.651017+141C>T 0.0101837 0.0347 Uncertain 4_152024326_T->G 4 152024326 152024326 T G snp 1101.77 1/1 81 36 0 36 1.0 UTR3 rs4696658 RPS3A AU 0.622804 0.7341 Uncertain 4_152048936_A->T 4 152048936 152048936 A T snp 955.77 1/1 72 27 0 27 1.0 intronic rs11099782 SH3D19 AU NM_001243349 exon2 c.5625+69A>T 0.744409 0.9226 Uncertain 4_152053408_G->A 4 152053408 152053408 G A snp 689.77 1/1 51 23 0 23 1.0 intronic rs7664483 SH3D19 AU NM_001243349 exon4 c.10240-74G>A 0.622804 0.7262 Uncertain 4_152061201_T->C 4 152061201 152061201 T C snp 54.74 1/1 6 3 0 3 1.0 intronic rs2280280 SH3D19 AU NM_001243349 exon8 c.17757+202T>C 0.683307 0.7252 Uncertain 4_152069407_ACACACACACACACAC->- 4 152069407 152069422 ACACACACACACACAC - indel 3988.73 1/1 69 39 0 39 1.0 intronic rs150487703 SH3D19 AU NM_001243349 exon10 c.26096+69_26096+84delACACACACACACACAC Uncertain 4_152070633_T->A 4 152070633 152070633 T A snp 3064.77 1/1 99 114 0 114 1.0 intronic rs3792611 SH3D19 AU NM_001243349 exon11 c.27409-18T>A 0.618211 0.7242 0.709596 0.7988 0.7204 Uncertain 4_152201053_G->A 4 152201053 152201053 G A snp 1060.77 0/1 99 99 53 46 0.46 exonic rs36097019 PRSS48 AU nonsynonymous SNV NM_183375 exon2 c.G158A p.C53Y 0.34345 0.3631 0.356377 0.4158 0.3328 0.03 T 1.0 P -1.032 T 1.0 D 1.0 D Pathogenic 4_152201204_A->G 4 152201204 152201204 A G snp 587.77 1/1 45 19 0 19 1.0 intronic rs1875308 PRSS48 AU NM_183375 exon2 c.2786+94A>G 0.699681 0.7411 Uncertain 4_152212486_C->T 4 152212486 152212486 C T snp 1841.77 0/1 99 163 83 80 0.49 exonic rs13126069 PRSS48 AU nonsynonymous SNV NM_183375 exon5 c.C868T p.R290C 0.34345 0.3631 0.356341 0.4156 0.3323 0.19 T 0.011 P -1.018 T 0.379 T 0.121 T Pathogenic 4_152212603_T->G 4 152212603 152212603 T G snp 2305.77 1/1 99 82 0 82 1.0 exonic rs2407221 PRSS48 AU stoploss NM_183375 exon5 c.T985G p.X329E 0.779553 0.7411 0.898672 0.8848 0.7601 0.0 P -1.038 T Uncertain 4_152212704_T->A 4 152212704 152212704 T A snp 141.77 0/1 99 15 9 6 0.4 downstream rs13102005 PRSS48 AU 0.34345 0.3631 Uncertain 4_152583907_-->T 4 152583907 152583907 - T indel 280.73 1/1 37 39 1 38 0.97 UTR3 rs11378262 FAM160A1 AU 0.561302 0.6022 0.4418 0.5101 Uncertain 4_152592191_T->C 4 152592191 152592191 T C snp 125.78 0/1 27 5 1 4 0.8 UTR3 rs4571 GATB AU 0.61881 0.4812 Uncertain 4_152592469_-->TTAC 4 152592469 152592469 - TTAC indel 2449.73 0/1 99 77 22 55 0.71 intronic rs112033226 GATB AU NM_004564 exon1 c.129+15insTTAC 0.61881 0.4802 0.5236 0.5044 Uncertain 4_152601146_T->G 4 152601146 152601146 T G snp 231.77 0/1 99 14 6 8 0.57 intronic rs907237 GATB AU NM_004564 exon3 c.8718+103T>G 0.589657 0.4792 Uncertain 4_152609694_A->G 4 152609694 152609694 A G snp 478.77 0/1 99 45 27 18 0.4 intronic rs6535814 GATB AU NM_004564 exon4 c.17456-87A>G 0.580072 0.4554 Uncertain 4_152609700_A->C 4 152609700 152609700 A C snp 582.77 0/1 99 52 30 22 0.42 intronic rs6535815 GATB AU NM_004564 exon4 c.17456-81A>C 0.580272 0.4554 Uncertain 4_152609921_A->- 4 152609921 152609921 A - indel 750.73 0/1 99 95 31 64 0.67 splicing rs11292952 GATB AU NM_004564 exon4 c.17590+6delA 0.574281 0.506 0.5436 0.5316 Pathogenic 4_152643184_G->A 4 152643184 152643184 G A snp 561.77 0/1 99 38 18 20 0.53 intronic rs6817586 GATB AU NM_004564 exon11 c.48365+2494G>A 0.609425 0.4593 Uncertain 4_152681952_A->G 4 152681952 152681952 A G snp 698.77 0/1 99 51 21 30 0.59 intronic rs1429559 GATB AU NM_004564 exon13 c.89633-6A>G 0.445487 0.3323 0.415501 0.4024 0.3721 Uncertain 4_153252061_A->G 4 153252061 153252061 A G snp 2789.77 1/1 99 88 0 88 1.0 intronic rs10033601 FBXW7 AU NM_001013415 exon6 c.7988+41A>G 0.48123 0.4484 0.414103 0.3729 0.4533 Uncertain 4_153267968_A->G 4 153267968 153267968 A G snp 1838.77 1/1 99 55 0 55 1.0 intronic rs2714803 FBXW7 AU NM_001013415 exon9 c.24049-113A>G 0.958067 1 Uncertain 4_153271110_A->C 4 153271110 153271110 A C snp 59.74 1/1 6 3 0 3 1.0 intronic rs34708673 FBXW7 AU NM_001013415 exon10 c.27161-83A>C 0.0634984 0.1716 Uncertain 4_153332380_T->G 4 153332380 153332380 T G snp 76.77 0/1 99 11 6 5 0.45 UTR3 rs12644477 FBXW7 AU 0.184105 0.2758 0.1161 0.3196 Uncertain 4_153410390_C->A 4 153410390 153410390 C A snp 1307.77 1/1 93 46 0 46 1.0 intronic rs10021011 FBXW7 AU NM_033632 exon12 c.212060-45702C>A 0.496206 0.5099 Uncertain 4_153457457_G->A 4 153457457 153457457 G A snp 111.77 0/1 99 9 5 4 0.44 ncRNA_exonic rs3733263 DKFZP434I0714 AU 0.0595048 0.1587 Uncertain 4_153565641_A->G 4 153565641 153565641 A G snp 583.77 0/1 99 65 39 26 0.4 intronic rs12650966 TMEM154 AU NM_152680 exon4 c.15897+47A>G 0.424521 0.4831 0.387513 0.4569 0.4874 Uncertain 4_153568339_A->T 4 153568339 153568339 A T snp 110.77 0/1 99 8 4 4 0.5 intronic rs12641337 TMEM154 AU NM_152680 exon4 c.15897+2745A>T 0.578075 0.4107 Uncertain 4_153690842_T->C 4 153690842 153690842 T C snp 2199.77 0/1 99 217 127 90 0.41 exonic rs4696354 TIGD4 AU nonsynonymous SNV NM_145720 exon2 c.A1315G p.I439V 0.694888 0.6974 0.632324 0.6606 0.7043 0.56 T 0.0 P -0.986 T 0.0 T 0.0 T Pathogenic 4_153750918_G->A 4 153750918 153750918 G A snp 753.77 0/1 99 62 28 34 0.55 intronic rs10010297 ARFIP1 AU NM_001287433 exon3 c.93+40G>A 0.679712 0.6597 0.632708 0.6542 0.6718 Uncertain 4_153802060_A->G 4 153802060 153802060 A G snp 178.77 0/1 99 10 4 6 0.6 intronic rs80127385 ARFIP1 AU NM_001287433 exon6 c.51329-54A>G 0.387979 0.4752 Uncertain 4_153870355_T->C 4 153870355 153870355 T C snp 319.77 0/1 99 24 9 15 0.63 intronic rs12651510 FHDC1 AU NM_033393 exon2 c.10441-4295T>C 0.621605 0.6597 Uncertain 4_153884092_-->GT 4 153884092 153884092 - GT indel 1576.73 0/1 99 88 9 79 0.9 intronic rs377643778 FHDC1 AU NM_033393 exon6 c.19827+56insGT 0.290335 0.3413 Uncertain 4_153896358_C->T 4 153896358 153896358 C T snp 2029.77 0/1 99 170 86 84 0.49 exonic rs3811833 FHDC1 AU nonsynonymous SNV NM_033393 exon11 c.C1915T p.R639C 0.48143 0.5466 0.582205 0.6540 0.5657 0.02 T 0.0 P -1.004 T 0.997 D 0.563 D Pathogenic 4_153897770_G->A 4 153897770 153897770 G A snp 1316.77 0/1 99 97 42 55 0.57 exonic rs3811832 FHDC1 AU synonymous SNV NM_033393 exon11 c.G3327A p.T1109T 0.462061 0.5476 0.535566 0.6203 0.5824 Uncertain 4_154091111_C->T 4 154091111 154091111 C T snp 337.77 0/1 99 20 9 11 0.55 intronic rs34284701 TRIM2 AR 0.482827 0.3829 Uncertain 4_154178697_A->G 4 154178697 154178697 A G snp 2488.77 0/1 99 224 111 113 0.5 intronic rs12643843 TRIM2 AR NM_001302694 exon1 c.3-62A>G 0.276158 0.1885 Uncertain 4_154191710_G->A 4 154191710 154191710 G A snp 335.77 0/1 99 25 13 12 0.48 intronic rs1470104 TRIM2 AR NM_001130067 exon2 c.134+39G>A 0.183307 0.1329 0.206828 0.2510 0.1358 Uncertain 4_154216710_G->A 4 154216710 154216710 G A snp 4007.77 0/1 99 250 91 159 0.64 exonic rs893805 TRIM2 AR synonymous SNV NM_001130067 exon6 c.G951A p.T317T 0.455272 0.1786 0.529755 0.4721 0.1931 Uncertain 4_154266116_G->A 4 154266116 154266116 G A snp 183.77 0/1 99 9 3 6 0.67 intronic rs13137146 MND1 AU NM_032117 exon1 c.3+224G>A 0.199481 0.1131 Uncertain 4_154276771_C->T 4 154276771 154276771 C T snp 400.77 0/1 87 20 4 16 0.8 intronic rs79519239 MND1 AU NM_032117 exon3 c.10916-34C>T 0.0930511 0.1081 0.073682 0.1177 0.1284 Uncertain 4_154336174_A->T 4 154336174 154336174 A T snp 242.77 0/1 92 12 3 9 0.75 UTR3 rs11099880 MND1 AU 0.323882 0.3065 Uncertain 4_154478000_-->AAATC 4 154478000 154478000 - AAATC indel 326.73 0/1 99 13 8 5 0.38 intronic rs10639508 KIAA0922 AU NM_015196 exon6 c.90568-117insAAATC 0.503994 0.4841 Uncertain 4_154478300_A->G 4 154478300 154478300 A G snp 553.77 0/1 99 43 22 21 0.49 intronic rs56981750 KIAA0922 AU NM_015196 exon6 c.90685+66A>G 0.129992 0.0079 Uncertain 4_154524363_G->A 4 154524363 154524363 G A snp 138.77 0/1 99 14 9 5 0.36 intronic rs550471557 KIAA0922 AU NM_015196 exon24 c.136905-91G>A 0.000798722 0.004 Uncertain 4_154525458_C->T 4 154525458 154525458 C T snp 2245.77 0/1 99 233 132 101 0.43 exonic rs1063151 KIAA0922 AU synonymous SNV NM_001131007 exon25 c.C3294T p.A1098A 0.16274 0.3264 0.082654 0.1453 0.3260 Uncertain 4_154542161_C->A 4 154542161 154542161 C A snp 37.77 0/1 66 4 2 2 0.5 intronic rs3761657 KIAA0922 AU NM_015196 exon27 c.154483+129C>A 0.65016 0.4097 Uncertain 4_154542814_G->T 4 154542814 154542814 G T snp 356.77 0/1 99 26 14 12 0.46 intronic rs7663417 KIAA0922 AU NM_015196 exon28 c.155285-20G>T 0.532548 0.376 0.554129 0.5822 0.3858 Uncertain 4_154556798_C->G 4 154556798 154556798 C G snp 436.77 1/1 33 11 0 11 1.0 intronic rs2278576 KIAA0922 AU NM_015196 exon34 c.169174+75C>G 0.748602 0.7738 Uncertain 4_154557384_TG->- 4 154557384 154557385 TG - indel 2582.73 1/1 99 53 0 53 1.0 intronic rs142471814 KIAA0922 AU NM_015196 exon35 c.169903-68_169903-67delTG 0.74401 0.7728 Uncertain 4_154557406_T->- 4 154557406 154557406 T - indel 2445.73 1/1 99 86 1 85 0.99 intronic rs3214684 KIAA0922 AU NM_015196 exon35 c.169903-46delT 0.748312 0.8024 0.7947 Uncertain 4_154624656_T->C 4 154624656 154624656 T C snp 2400.77 0/1 99 239 135 104 0.44 exonic rs3804099 TLR2 AU,AD synonymous SNV NM_003264 exon3 c.T597C p.N199N 0.414736 0.2827 0.494695 0.4113 0.2941 Uncertain 4_154625409_T->C 4 154625409 154625409 T C snp 2676.77 0/1 99 250 138 112 0.45 exonic rs3804100 TLR2 AU,AD synonymous SNV NM_003264 exon3 c.T1350C p.S450S 0.108427 0.2391 0.063817 0.0914 0.2642 Uncertain 4_154631543_A->T 4 154631543 154631543 A T snp 4563.77 1/1 99 176 0 176 1.0 exonic rs2405432 RNF175 AU nonsynonymous SNV NM_173662 exon9 c.T965A p.I322N 0.963259 1 0.966777 0.9859 1 1 T 1.000 P -0.990 T 0.0 T 0.0 T Pathogenic 4_154631563_T->C 4 154631563 154631563 T C snp 2337.77 0/1 99 191 88 103 0.54 exonic rs1339 RNF175 AU nonsynonymous SNV NM_173662 exon9 c.A945G p.I315M 0.154153 0.3026 0.155420 0.2502 0.3749 0.13 T 1.000 P -1.079 T 0.993 D 0.943 D Pathogenic 4_154641489_T->C 4 154641489 154641489 T C snp 465.77 0/1 99 57 38 19 0.33 intronic rs1439166 RNF175 AU NM_173662 exon4 c.9936+33T>C 0.402756 0.3085 0.566406 0.5212 0.3005 Uncertain 4_154644454_T->C 4 154644454 154644454 T C snp 3945.77 1/1 99 141 0 141 1.0 intronic rs1456384 RNF175 AU NM_173662 exon5 c.12982-48T>C 0.981829 1 0.984352 0.9942 1 Uncertain 4_154709856_A->C 4 154709856 154709856 A C snp 3066.77 1/1 99 103 0 103 1.0 exonic rs6535952 SFRP2 AU synonymous SNV NM_003013 exon1 c.T132G p.P44P 0.982628 1 0.984084 0.9954 1 Uncertain 4_155156207_G->A 4 155156207 155156207 G A snp 7549.77 1/1 99 250 0 250 1.0 exonic rs7655799 DCHS2 AU synonymous SNV NM_017639 exon25 c.C8232T p.D2744D 0.669529 0.7728 0.732969 0.8317 0.7861 Uncertain 4_155161666_C->T 4 155161666 155161666 C T snp 4405.77 1/1 99 151 0 151 1.0 intronic rs6535989 DCHS2 AU NM_017639 exon3 c.6001-22C>T 0.647764 0.7718 0.711672 0.8220 0.7883 Uncertain 4_155190927_-->A 4 155190927 155190927 - A indel 155.73 0/1 99 15 8 7 0.47 intronic rs11412936 DCHS2 AU NM_017639 exon7 c.35364-124insA 0.433906 0.4593 Uncertain 4_155191278_G->C 4 155191278 155191278 G C snp 54.74 1/1 6 2 0 2 1.0 intronic rs4386583 DCHS2 AU NM_017639 exon7 c.35478+113G>C 0.435304 0.4593 Uncertain 4_155225784_A->C 4 155225784 155225784 A C snp 158.9 1/1 15 5 0 5 1.0 intronic rs1352715 DCHS2 AU NM_017639 exon9 c.70133-36A>C 0.254393 0.3512 0.3018 0.3464 Uncertain 4_155226421_C->A 4 155226421 155226421 C A snp 934.77 1/1 69 29 0 29 1.0 intronic rs12507663 DCHS2 AU NM_017639 exon10 c.70696+38C>A 0.262979 0.3562 0.246681 0.3287 0.3621 Uncertain 4_155236778_C->G 4 155236778 155236778 C G snp 309.78 1/1 24 8 0 8 1.0 intronic rs1388085 DCHS2 AU NM_017639 exon11 c.81212-121C>G 0.789137 0.8849 Uncertain 4_155241438_G->A 4 155241438 155241438 G A snp 840.77 1/1 63 24 0 24 1.0 intronic rs11935503 DCHS2 AU NM_017639 exon12 c.85843-92G>A 0.263179 0.3552 Uncertain 4_155241572_G->A 4 155241572 155241572 G A snp 5163.77 1/1 99 187 0 187 1.0 exonic rs11935573 DCHS2 AU nonsynonymous SNV NM_017639 exon14 c.C3614T p.S1205L 0.262979 0.3552 0.250115 0.3185 0.3576 0.06 T 1.0 P -1.010 T 0.998 D 0.891 D Pathogenic 4_155242383_C->T 4 155242383 155242383 C T snp 446.77 1/1 33 16 0 16 1.0 intronic rs62331873 DCHS2 AU NM_017639 exon12 c.86687+9C>T 0.261581 0.3552 0.242448 0.3211 0.3591 Uncertain 4_155243573_C->T 4 155243573 155243573 C T snp 4860.77 1/1 99 173 0 173 1.0 exonic rs13109747 DCHS2 AU synonymous SNV NM_017639 exon13 c.G2721A p.S907S 0.788938 0.8849 0.783869 0.8884 0.8694 Uncertain 4_155243604_T->C 4 155243604 155243604 T C snp 3921.77 1/1 99 139 0 139 1.0 exonic rs1352714 DCHS2 AU nonsynonymous SNV NM_017639 exon13 c.A2690G p.N897S 0.867812 0.8849 0.893280 0.9440 0.8693 0.86 T 1.000 P -0.975 T 0.0 T 0.0 T Pathogenic 4_155244402_TTTG->- 4 155244402 155244405 TTTG - indel 1312.73 1/1 66 27 0 27 1.0 intronic rs140019361 DCHS2 AU NM_001142552 exon1 c.92-79_92-76delTTTG 0.8836 0.8880 Uncertain 4_155244475_G->T 4 155244475 155244475 G T snp 586.77 1/1 45 19 0 19 1.0 intronic rs12500437 DCHS2 AU NM_001142552 exon1 c.92-6G>T 0.788938 0.8849 0.8854 0.8931 0.16 T 0.0 P -0.989 T 0.0 T 0.0 T Uncertain 4_155244486_-->A 4 155244486 155244486 - A indel 66.82 0/1 17 14 2 12 0.86 intronic rs145036588 DCHS2 AU NM_001142552 exon1 c.92+5insA 0.1687 0.3403 Uncertain 4_155249118_C->T 4 155249118 155249118 C T snp 54.74 1/1 6 2 0 2 1.0 intronic rs2404704 DCHS2 AU NM_001142552 exon2 c.4855-126C>T 0.803115 0.8849 Uncertain 4_155256177_A->G 4 155256177 155256177 A G snp 3831.77 1/1 99 139 0 139 1.0 exonic rs6858157 DCHS2 AU synonymous SNV NM_017639 exon8 c.T1059C p.G353G 0.348642 0.3899 0.329617 0.3455 0.3896 Uncertain 4_155256205_G->A 4 155256205 155256205 G A snp 3174.77 1/1 99 112 0 112 1.0 exonic rs6858712 DCHS2 AU nonsynonymous SNV NM_017639 exon8 c.C1031T p.S344L 0.986022 1 0.982162 0.9954 1 0.68 T 0.0 P -0.983 T 0.017 T 0.005 T Pathogenic 4_155305491_C->T 4 155305491 155305491 C T snp 3007.77 1/1 99 96 0 96 1.0 intronic rs34927139 DCHS2 AU NM_017639 exon24 c.149832-28C>T 0.369409 0.6498 0.278794 0.3880 0.6672 Uncertain 4_155407407_A->T 4 155407407 155407407 A T snp 951.77 1/1 72 28 0 28 1.0 intergenic rs4346631 DCHS2 AU 0.753994 0.9891 Uncertain 4_155407569_T->C 4 155407569 155407569 T C snp 3410.77 1/1 99 128 0 128 1.0 intergenic rs12501998 DCHS2 AU 0.753794 0.9891 0.7470 0.9936 Uncertain 4_155407680_A->G 4 155407680 155407680 A G snp 1457.77 1/1 99 48 0 48 1.0 intergenic rs13151559 DCHS2 AU 0.753994 0.9891 0.664039 0.7468 0.9936 Uncertain 4_155410650_T->C 4 155410650 155410650 T C snp 2166.77 0/1 99 155 71 84 0.54 intergenic rs72731014 DCHS2 AU 0.172923 0.1558 0.137319 0.2056 0.1295 0.81 T 0.0 P -0.999 T 0.001 T 0.004 T Uncertain 4_155410667_G->A 4 155410667 155410667 G A snp 2158.77 0/1 99 170 81 89 0.52 intergenic rs55810732 DCHS2 AU 0.171725 0.1558 0.138414 0.2056 0.1291 1 T 0.0 P -0.997 T 0.001 T 0.002 T Uncertain 4_155410731_G->C 4 155410731 155410731 G C snp 2007.77 0/1 99 173 83 90 0.52 intergenic rs72731016 DCHS2 AU 0.171126 0.1548 0.2039 0.1307 1 T 0.0 P -1.044 T 0.006 T 0.009 T Uncertain 4_155410822_G->A 4 155410822 155410822 G A snp 2134.77 0/1 99 181 93 88 0.49 intergenic rs4696593 DCHS2 AU 0.580871 0.8333 0.524748 0.5512 0.8629 Uncertain 4_155411065_T->C 4 155411065 155411065 T C snp 7308.77 1/1 99 250 0 250 1.0 intergenic rs7656522 DCHS2 AU 0.776558 0.9891 0.682435 0.7638 0.9933 Uncertain 4_155411104_A->C 4 155411104 155411104 A C snp 7192.77 1/1 99 250 0 250 1.0 intergenic rs6536016 DCHS2 AU 0.916534 1 0.913272 0.9713 1 Uncertain 4_155411649_G->A 4 155411649 155411649 G A snp 2194.77 0/1 99 202 105 97 0.48 intergenic rs13130030 DCHS2 AU 0.378594 0.1677 0.4640 0.1548 Uncertain 4_155411883_G->A 4 155411883 155411883 G A snp 2232.77 0/1 99 159 65 94 0.59 intergenic rs17373860 DCHS2 AU 0.0333466 0.002 0.060009 0.0490 0.0018 0.14 T 1 N -1.078 T 0.179 T 0.033 T Uncertain 4_155411939_A->C 4 155411939 155411939 A C snp 1318.77 0/1 99 160 101 59 0.37 intergenic rs17373874 DCHS2 AU 0.40615 0.1667 0.464958 0.4604 0.1488 0.87 T 0.945 P -0.951 T 0.0 T 0.0 T Uncertain 4_155412464_C->T 4 155412464 155412464 C T snp 1018.77 0/1 99 67 27 40 0.6 intergenic rs13149269 DCHS2 AU 0.372804 0.1647 0.4763 0.1674 0.47 T 0.0 P -1.094 T 0.021 T 0.003 T Uncertain 4_155412581_C->G 4 155412581 155412581 C G snp 54.74 1/1 6 2 0 2 1.0 intergenic rs17031728 DCHS2 AU 0.171526 0.1548 Uncertain 4_155460459_T->C 4 155460459 155460459 T C snp 354.78 1/1 27 11 0 11 1.0 intronic rs12642770 PLRG1 AU NM_002669 exon4 c.2529+94T>C 0.245607 0.5367 Uncertain 4_155465485_G->C 4 155465485 155465485 G C snp 391.77 0/1 99 33 16 17 0.52 intronic rs139137549 PLRG1 AU NM_002669 exon9 c.7760-111G>C 0.00219649 0.0089 Uncertain 4_155507590_T->C 4 155507590 155507590 T C snp 3168.77 0/1 99 250 125 125 0.5 exonic rs6050 FGA AR,AD,AU nonsynonymous SNV NM_021871 exon5 c.A991G p.T331A 0.327077 0.4315 0.289943 0.2872 0.4541 0.83 T 0.0 P -1.021 T 0.025 T 0.008 T CLINSIG=other;CLNDBN=Venous_thromboembolism\x2c_susceptibility_to;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000017882.2;CLNDSDB=.;CLNDSDBID=. ID=CM994632;DIS=Increased post-stroke mortality, association with;TAG=DP;PUB=10318664 DP Pathogenic 4_155508627_G->A 4 155508627 155508627 G A snp 6875.77 1/1 99 248 0 248 1.0 intronic rs2070018 FGA AR,AD,AU NM_021871 exon2 c.2018-36G>A 0.889976 0.9296 0.869522 0.8767 0.9510 Uncertain 4_155510224_A->T 4 155510224 155510224 A T snp 656.77 1/1 51 21 0 21 1.0 intronic rs7656433 FGA AR,AD,AU NM_021871 exon3 c.3483+96A>T 0.985423 1 Uncertain 4_155511897_T->C 4 155511897 155511897 T C snp 1205.77 0/1 99 100 50 50 0.5 UTR5 rs2070011 FGA AR,AD,AU 0.642971 0.5 0.648051 ID=CR066662;DIS=Venous thromboembolism, susceptibility, association with;TAG=DFP;PUB=16362348 DFP Uncertain 4_155525276_G->A 4 155525276 155525276 G A snp 186.77 0/1 99 16 8 8 0.5 downstream rs2066865 FGG AR,AU 0.302716 0.4415 ID=CR054936;DIS=Deep venous thrombosis, increased risk, association with;TAG=DP;PUB=16144795 DP Uncertain 4_155525970_G->A 4 155525970 155525970 G A snp 464.77 0/1 99 29 11 18 0.62 intronic rs1049636 FGG AR,AU NM_000509 exon2 c.557-78G>A 0.700879 0.8095 0.710057 0.6772 0.8111 Uncertain 4_155719920_T->- 4 155719920 155719920 T - indel 516.73 1/1 54 18 0 18 1.0 intronic rs33918255 RBM46 AU NM_001277171 exon4 c.2029-13delT 0.72504 0.8095 0.6672 0.8262 Uncertain 4_155720274_T->C 4 155720274 155720274 T C snp 2547.77 0/1 99 221 113 108 0.49 exonic rs156502 RBM46 AU synonymous SNV NM_001277171 exon4 c.T960C p.N320N 0.683706 0.747 0.557435 0.5310 0.7447 Uncertain 4_155748154_C->T 4 155748154 155748154 C T snp 108.77 0/1 99 8 4 4 0.5 UTR3 rs2042622 RBM46 AU 0.260184 0.4415 Uncertain 4_156135676_C->T 4 156135676 156135676 C T snp 3026.77 0/1 99 210 84 126 0.6 exonic rs1047214 NPY2R AU synonymous SNV NM_000910 exon2 c.C585T p.I195I 0.70028 0.8115 0.645856 0.5864 0.7995 ID=CM057405;DIS=Severe obesity, in men, association with;TAG=DP;PUB=15855352 DP Uncertain 4_156136027_C->T 4 156136027 156136027 C T snp 2561.77 0/1 99 226 112 114 0.5 exonic rs2880415 NPY2R AU synonymous SNV NM_000910 exon2 c.C936T p.I312I 0.656949 0.7609 0.610257 0.5734 0.7542 ID=CM057404;DIS=Severe obesity, in men, association with;TAG=DP;PUB=15855352 DP Uncertain 4_156276100_A->G 4 156276100 156276100 A G snp 110.77 0/1 99 8 4 4 0.5 ncRNA_intronic rs3775250 LOC102724776 AU 0.0854633 0.1319 Uncertain 4_156276289_C->T 4 156276289 156276289 C T snp 346.77 0/1 99 29 15 14 0.48 exonic rs2341894 MAP9 AU synonymous SNV NM_001039580 exon10 c.G1314A p.V438V 0.739816 0.9266 0.658213 0.5998 0.9087 Uncertain 4_156276317_A->G 4 156276317 156276317 A G snp 250.77 0/1 99 24 12 12 0.5 splicing rs2880181 MAP9 AU NM_001039580 exon5 c.7378+5A>G 0.739816 0.9266 0.656664 0.5908 0.9006 Pathogenic 4_156281311_T->G 4 156281311 156281311 T G snp 1386.77 0/1 99 97 42 55 0.57 ncRNA_intronic rs17032890 LOC102724776 AU 0.0856629 0.1319 0.062981 0.0388 0.1121 Uncertain 4_156294333_T->C 4 156294333 156294333 T C snp 760.77 0/1 99 86 49 37 0.43 exonic rs34082815 MAP9 AU nonsynonymous SNV NM_001039580 exon4 c.A436G p.M146V 0.0856629 0.1319 0.063596 0.0391 0.1152 0.3 T 0.0 P -0.993 T 0.008 T 0.006 T Pathogenic 4_156294624_-->A 4 156294624 156294624 - A indel 104.73 0/1 99 24 18 6 0.25 intronic rs34053877 MAP9 AU NM_001039580 exon11 c.25674+16insA 0.529553 0.7183 0.412523 0.3963 0.7190 Uncertain 4_156617994_G->A 4 156617994 156617994 G A snp 629.77 0/1 99 57 28 29 0.51 UTR5 rs2306557 GUCY1A3 AR 0.222444 0.2331 0.230125 0.2493 0.2237 Uncertain 4_156632391_A->G 4 156632391 156632391 A G snp 5854.77 1/1 99 206 0 206 1.0 exonic rs11944673 GUCY1A3 AR synonymous SNV NM_000856 exon7 c.A1074G p.K358K 0.979433 1 0.973840 0.9863 1 Uncertain 4_156634946_C->G 4 156634946 156634946 C G snp 54.74 1/1 6 2 0 2 1.0 intronic rs2242296 GUCY1A3 AR NM_001130687 exon7 c.16716+211C>G 0.392372 0.4097 Uncertain 4_156643068_G->A 4 156643068 156643068 G A snp 1816.77 0/1 99 114 46 68 0.6 intronic rs3816763 GUCY1A3 AR NM_001130687 exon9 c.25170-121G>A 0.090655 0.121 Uncertain 4_156643176_T->A 4 156643176 156643176 T A snp 7008.77 1/1 99 250 2 248 0.99 intronic rs2306555 GUCY1A3 AR NM_001130687 exon9 c.25170-13T>A 0.401358 0.4087 0.407197 0.3728 0.4096 Uncertain 4_156680340_G->T 4 156680340 156680340 G T snp 646.77 0/1 99 60 31 29 0.48 intronic rs1459845 GUCY1B3 AU NM_000857 exon1 c.3+45G>T 0.429113 0.6915 0.372614 0.4954 0.7268 Uncertain 4_156706482_G->A 4 156706482 156706482 G A snp 643.77 0/1 99 76 47 29 0.38 splicing rs1459853 GUCY1B3 AU NM_001291951 exon5 c.26189+1G>A 0.665335 0.3442 0.7019 0.3333 0.0 P Pathogenic 4_156757789_-->A 4 156757789 156757789 - A indel 168.77 1/1 21 7 0 7 1.0 intronic ASIC5 AU NM_017419 exon3 c.6833-51insA 0.836462 0.9296 Uncertain 4_156757818_A->C 4 156757818 156757818 A C snp 525.77 1/1 39 16 0 16 1.0 intronic ASIC5 AU NM_017419 exon3 c.6833-22A>C 0.685304 0.872 0.731220 0.8073 0.8742 Uncertain 4_156784970_C->T 4 156784970 156784970 C T snp 591.77 1/1 45 17 0 17 1.0 intronic ASIC5 AU NM_017419 exon9 c.33899+64C>T 0.979832 1 Uncertain 4_156787214_A->G 4 156787214 156787214 A G snp 493.77 1/1 39 14 0 14 1.0 intronic ASIC5 AU NM_017419 exon10 c.36331-124A>G 0.944888 1 Uncertain 4_156787340_G->A 4 156787340 156787340 G A snp 3272.77 1/1 99 123 0 123 1.0 exonic ASIC5 AU synonymous SNV NM_017419 exon1 c.C39T p.N13N 0.848442 0.9643 0.836666 0.9165 0.9578 Uncertain 4_156826166_C->G 4 156826166 156826166 C G snp 395.77 1/1 30 13 0 13 1.0 intronic TDO2 AU NM_005651 exon3 c.1308-52C>G 0.975639 1 0.970369 Uncertain 4_156831096_C->T 4 156831096 156831096 C T snp 118.78 0/1 27 6 1 5 0.83 intronic TDO2 AU NM_005651 exon6 c.6266-80C>T 0.0171725 0.0298 Uncertain 4_156832841_C->T 4 156832841 156832841 C T snp 99.28 1/1 9 3 0 3 1.0 intronic TDO2 AU NM_005651 exon7 c.7846+85C>T 0.723442 0.879 Uncertain 4_156839462_C->T 4 156839462 156839462 C T snp 790.77 1/1 60 24 0 24 1.0 intronic TDO2 AU NM_005651 exon11 c.14481+71C>T 0.891573 0.9772 Uncertain 4_156847230_A->G 4 156847230 156847230 A G snp 1879.77 1/1 99 76 4 72 0.95 intronic CTSO AU NM_001334 exon1 c.35+8A>G 0.735024 0.9087 0.587652 0.8395 0.8927 Uncertain 4_156847238_G->- 4 156847238 156847238 G - indel 2637.73 1/1 99 70 0 70 1.0 intronic CTSO AU NM_001334 exon1 c.35+16delG 0.689097 0.8442 0.720927 0.8386 0.8911 Uncertain 4_156850515_G->T 4 156850515 156850515 G T snp 99.28 1/1 9 3 0 3 1.0 intronic CTSO AU NM_001334 exon3 c.3506-178G>T 0.808506 0.9474 Uncertain 4_156874833_G->A 4 156874833 156874833 G A snp 919.77 0/1 99 83 40 43 0.52 intronic CTSO AU NM_001334 exon8 c.27677-31G>A 0.350439 0.2679 0.4558 0.4 Uncertain 4_156874849_G->T 4 156874849 156874849 G T snp 994.77 0/1 99 80 36 44 0.55 intronic CTSO AU NM_001334 exon8 c.27677-15G>T 0.111422 0.0982 0.2705 0.25 Uncertain 4_157563266_A->G 4 157563266 157563266 A G snp 222.84 1/1 18 6 0 6 1.0 intergenic rs7658059 CTSO AU 0.598043 0.5526 Uncertain 4_157999302_T->A 4 157999302 157999302 T A snp 455.77 0/1 99 53 30 23 0.43 splicing rs3775725 GLRB AU NM_001166061 exon2 c.122+4T>A 0.0257588 0.1131 0.002845 0.0112 0.0941 Pathogenic 4_157999448_G->A 4 157999448 157999448 G A snp 33.77 0/1 62 4 2 2 0.5 intronic rs76888800 GLRB AU NM_001166061 exon2 c.122+150G>A 0.0265575 0.1131 Uncertain 4_158041591_G->A 4 158041591 158041591 G A snp 198.77 0/1 99 24 16 8 0.33 intronic rs11932115 GLRB AU NM_001166061 exon3 c.42531-116G>A 0.48742 0.4782 Uncertain 4_158043559_C->T 4 158043559 158043559 C T snp 349.77 0/1 99 31 16 15 0.48 intronic rs41280501 GLRB AU NM_001166061 exon4 c.44373+10C>T 0.491214 0.4782 0.436738 0.3765 0.4294 Uncertain 4_158043620_T->C 4 158043620 158043620 T C snp 160.77 0/1 99 16 8 8 0.5 intronic rs78567159 GLRB AU NM_001166061 exon4 c.44373+71T>C 0.0541134 0.1151 Uncertain 4_158065038_T->C 4 158065038 158065038 T C snp 925.77 1/1 66 36 0 36 1.0 exonic rs12507409 GLRB AU synonymous SNV NM_000824 exon8 c.T831C p.T277T 0.979633 1 0.978087 0.9937 1 Uncertain 4_158143092_A->G 4 158143092 158143092 A G snp 192.77 0/1 58 8 2 6 0.75 intronic rs13138842 GRIA2 AU NM_001083620 exon2 c.88+133A>G 0.80651 0.7986 Uncertain 4_158238830_T->C 4 158238830 158238830 T C snp 574.77 0/1 99 40 17 23 0.57 exonic rs4302506 GRIA2 AU synonymous SNV NM_000826 exon5 c.T687C p.H229H 0.660144 0.7897 0.601512 0.6761 0.8160 Uncertain 4_158242540_G->A 4 158242540 158242540 G A snp 74.77 0/1 99 9 6 3 0.33 intronic rs4475186 GRIA2 AU NM_001083620 exon6 c.99718-49G>A 0.659345 0.7897 0.600062 0.6664 0.8147 Uncertain 4_159076679_C->A 4 159076679 159076679 C A snp 703.77 0/1 99 42 18 24 0.57 intronic rs6830475 FAM198B AU NM_001128424 exon3 c.28204-83C>A 0.517572 0.747 Uncertain 4_159076826_C->T 4 159076826 159076826 C T snp 5954.77 1/1 99 230 2 228 0.99 exonic rs6830702 FAM198B AU synonymous SNV NM_001128424 exon3 c.G1062A p.S354S 0.772564 0.9484 0.748693 0.8316 0.9514 Uncertain 4_159568383_A->G 4 159568383 159568383 A G snp 749.77 1/1 54 26 0 26 1.0 intronic rs13111939 RXFP1 AU NM_001253729 exon14 c.125225+30A>G 0.891773 1 0.905251 0.9705 0.9999 Uncertain 4_159601676_C->T 4 159601676 159601676 C T snp 2324.77 1/1 99 86 0 86 1.0 exonic rs11559290 ETFDH AR nonsynonymous SNV NM_004453 exon2 c.C92T p.T31I 0.672724 0.9732 0.656567 0.8119 0.9750 0.47 T 1.000 P -0.906 T 0.0 T 0.005 T CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000081080.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 4_159629814_A->C 4 159629814 159629814 A C snp 154.77 0/1 92 8 3 5 0.63 UTR3 rs17843966 ETFDH AR 0.18131 0.13 Uncertain 4_159630817_T->C 4 159630817 159630817 T C snp 425.77 0/1 99 31 15 16 0.52 UTR3 rs8396 PPID AU 0.26258 0.1538 Uncertain 4_159631991_G->T 4 159631991 159631991 G T snp 986.77 0/1 99 105 61 44 0.42 exonic rs9410 PPID AU nonsynonymous SNV NM_005038 exon8 c.C904A p.L302I 0.263379 0.125 0.326438 0.2700 0.1322 0.46 T 0.003 P -0.960 T 0.0 T 0.003 T Pathogenic 4_159640565_G->C 4 159640565 159640565 G C snp 702.77 1/1 54 21 0 21 1.0 intronic rs7666472 PPID AU NM_005038 exon8 c.9551+127G>C 0.943091 1 Uncertain 4_159644494_G->C 4 159644494 159644494 G C snp 896.77 0/1 99 92 52 40 0.43 UTR5 rs2070630 PPID AU 0.247204 0.127 0.305519 Uncertain 4_159644501_C->T 4 159644501 159644501 C T snp 876.77 0/1 99 84 47 37 0.44 UTR5 rs2070629 PPID AU 0.246406 0.124 Uncertain 4_159780244_C->G 4 159780244 159780244 C G snp 2482.77 0/1 99 192 89 103 0.54 exonic rs2276938 FNIP2 AU nonsynonymous SNV NM_020840 exon9 c.C893G p.T298S 0.0828674 0.0506 0.073685 0.0539 0.0541 0.791 P -1.041 T 0.015 T 0.013 T Pathogenic 4_159881479_T->C 4 159881479 159881479 T C snp 755.77 1/1 54 29 0 29 1.0 exonic rs9784569 C4orf45 AU synonymous SNV NM_152543 exon3 c.A315G p.Q105Q 0.202676 0.2421 0.239720 0.2478 0.2359 Uncertain 4_159894250_C->T 4 159894250 159894250 C T snp 3900.77 1/1 99 138 0 138 1.0 exonic rs619128 C4orf45 AU nonsynonymous SNV NM_152543 exon2 c.G278A p.G93E 0.978634 1 0.979142 0.9934 1 0.0 P -1.031 T 0.0 T 0.0 T Pathogenic 4_159894277_T->C 4 159894277 159894277 T C snp 2209.77 0/1 99 178 87 91 0.51 exonic rs17037858 C4orf45 AU nonsynonymous SNV NM_152543 exon2 c.A251G p.Y84C 0.0826677 0.2202 0.040268 0.0463 0.2059 0.0 P -1.028 T 0.019 T 0.015 T Pathogenic 4_159894305_T->C 4 159894305 159894305 T C snp 5479.77 1/1 99 209 2 207 0.99 exonic rs662473 C4orf45 AU nonsynonymous SNV NM_152543 exon2 c.A223G p.S75G 0.98103 1 0.982998 0.9946 1 0.0 P -0.976 T 0.0 T 0.0 T Pathogenic 4_160107918_T->C 4 160107918 160107918 T C snp 243.77 0/1 99 35 23 12 0.34 intergenic rs10014197 MIR3688-1 AU 0.423123 0.2321 Uncertain 4_160114277_G->C 4 160114277 160114277 G C snp 420.77 0/1 99 23 9 14 0.61 intergenic rs6834634 MIR3688-1 AU 0.639776 0.2966 Uncertain 4_160251417_-->TG 4 160251417 160251417 - TG indel 1283.73 1/1 99 33 0 33 1.0 intronic rs139978349 RAPGEF2 AU NM_014247 exon7 c.62178-68insTG Uncertain 4_162307000_T->C 4 162307000 162307000 T C snp 3131.77 0/1 99 247 120 127 0.51 exonic rs17040982 FSTL5 AU nonsynonymous SNV NM_001128428 exon15 c.A2413G p.K805E 0.0934505 0.1776 0.017684 0.0697 0.1830 0.38 T 0.935 P -1.001 T 0.104 T 0.036 T Pathogenic 4_162380213_-->T 4 162380213 162380213 - T indel 200.77 1/1 21 7 0 7 1.0 intronic rs398108217 FSTL5 AU NM_001128427 exon3 c.73465-150insT 0.838059 0.9504 Uncertain 4_162459299_T->C 4 162459299 162459299 T C snp 4372.77 1/1 99 150 0 150 1.0 intronic rs4691769 FSTL5 AU NM_001128427 exon7 c.152419-18T>C 0.984225 1 0.988698 0.9967 0.9999 Uncertain 4_162841814_-->A 4 162841814 162841814 - A indel 2551.73 1/1 99 99 0 99 1.0 intronic rs398108226 FSTL5 AU NM_001128427 exon13 c.534906+10insA 0.82508 0.8085 0.8933 0.7874 Uncertain 4_164048199_G->C 4 164048199 164048199 G C snp 4460.77 1/1 99 164 0 164 1.0 exonic rs4691895 NAF1 AU nonsynonymous SNV NM_001128931 exon8 c.C1102G p.L368V 0.795727 0.7867 0.778143 0.7998 0.7548 0.66 T 0.0 P -0.995 T 0.0 T 0.0 T Pathogenic 4_164085425_T->C 4 164085425 164085425 T C snp 737.77 1/1 54 28 0 28 1.0 exonic rs4691896 NAF1 AU nonsynonymous SNV NM_001128931 exon2 c.A484G p.I162V 0.791534 0.7867 0.772762 0.7961 0.7912 0.3 T 0.0 P -0.983 T 0.0 T 0.0 T Pathogenic 4_164087954_A->T 4 164087954 164087954 A T snp 2716.77 1/1 99 88 0 88 1.0 UTR5 rs936562 NAF1 AU 0.810304 0.7877 Uncertain 4_164393117_T->A 4 164393117 164393117 T A snp 2783.77 0/1 99 250 132 118 0.47 exonic rs11735477 TKTL2 AU nonsynonymous SNV NM_032136 exon1 c.A1770T p.Q590H 0.170927 0.2867 0.176303 0.1708 0.2951 0.78 T 0.0 P -1.089 T 0.009 T 0.012 T Pathogenic 4_164466970_C->T 4 164466970 164466970 C T snp 1276.77 0/1 99 95 48 47 0.49 intronic rs11726828 MARCH1 AU NM_001166373 exon2 c.16996+75C>T 0.809305 0.8929 Uncertain 4_164477252_-->T 4 164477252 164477252 - T indel 1249.73 0/1 99 102 43 59 0.58 intronic rs33943246 MARCH1 AU NM_001166373 exon2 c.16996+10357insT 0.60643 0.6756 Uncertain 4_164507104_G->T 4 164507104 164507104 G T snp 496.77 1/1 39 14 0 14 1.0 intronic rs7435076 MARCH1 AU NM_001166373 exon3 c.57182+23G>T 0.420128 0.5129 0.410580 0.4541 0.5050 Uncertain 4_164533242_C->A 4 164533242 164533242 C A snp 86.28 1/1 9 3 0 3 1.0 intronic rs907432 MARCH1 AU NM_001166373 exon4 c.84566-1223C>A 0.932508 0.9524 Uncertain 4_164533316_A->G 4 164533316 164533316 A G snp 767.77 1/1 57 24 0 24 1.0 intronic rs907431 MARCH1 AU NM_001166373 exon4 c.84566-1149A>G 0.941693 0.9524 Uncertain 4_165878170_A->G 4 165878170 165878170 A G snp 903.77 0/1 99 65 34 31 0.48 UTR5 rs3733419 FAM218A AU 0.297724 0.6518 0.128207 0.2607 0.6681 Uncertain 4_165878335_A->G 4 165878335 165878335 A G snp 2539.77 0/1 99 219 113 106 0.48 exonic rs3733418 FAM218A AU nonsynonymous SNV NM_153027 exon1 c.A161G p.H54R 0.278554 0.6488 0.126557 0.2357 0.6186 0 D 0.0 P -0.938 T 0.048 T 0.009 T Pathogenic 4_165981142_A->G 4 165981142 165981142 A G snp 1190.77 0/1 99 94 51 43 0.46 intergenic rs6819917 TRIM60 AU 0.141573 0.0784 0.122501 0.0943 0.0696 Uncertain 4_165981670_A->G 4 165981670 165981670 A G snp 452.77 0/1 99 34 16 18 0.53 intergenic rs17045936 TRIM60 AU 0.142173 0.0784 0.122228 0.1149 0.0860 Uncertain 4_166021585_T->C 4 166021585 166021585 T C snp 84.28 1/1 9 3 0 3 1.0 intronic rs4254727 TMEM192 AU NM_001100389 exon4 c.20970-194T>C 0.984225 1 Uncertain 4_166023969_A->C 4 166023969 166023969 A C snp 99.28 1/1 9 3 0 3 1.0 intronic rs6536891 TMEM192 AU NM_001100389 exon5 c.23292-132A>C 0.978235 1 Uncertain 4_166149905_C->G 4 166149905 166149905 C G snp 50.77 0/1 79 21 17 4 0.19 intronic KLHL2 AU NM_001161521 exon3 c.18664-53C>G Uncertain 4_166149915_G->A 4 166149915 166149915 G A snp 61.77 0/1 90 33 28 5 0.15 intronic rs766699652 KLHL2 AU NM_001161521 exon3 c.18664-43G>A 0.0266 0.0439 Uncertain 4_166150086_A->G 4 166150086 166150086 A G snp 448.77 0/1 99 67 43 24 0.36 intronic rs72699582 KLHL2 AU NM_001161521 exon3 c.18771+21A>G 0.3252 0.3871 Uncertain 4_166199390_C->T 4 166199390 166199390 C T snp 1434.77 0/1 99 156 91 65 0.42 ncRNA_exonic rs10016586 GK3P AU 0.15016 0.1875 0.1122 0.1663 Uncertain 4_166231868_A->G 4 166231868 166231868 A G snp 710.77 0/1 99 33 10 23 0.7 exonic rs28678193 KLHL2 AU synonymous SNV NM_001161522 exon9 c.A939G p.L313L 0.325679 0.2956 0.422574 0.3694 0.2741 Uncertain 4_166239187_C->T 4 166239187 166239187 C T snp 1243.77 0/1 99 110 60 50 0.45 intronic rs76952385 KLHL2 AU NM_001161522 exon13 c.79187+66C>T 0.0455272 0.122 Uncertain 4_166243037_A->C 4 166243037 166243037 A C snp 209.77 0/1 99 20 12 8 0.4 intronic rs57823891 KLHL2 AU NM_001161522 exon14 c.83249-146A>C 0.0908546 0.122 Uncertain 4_166243082_A->G 4 166243082 166243082 A G snp 387.77 0/1 99 55 39 16 0.29 intronic rs60759634 KLHL2 AU NM_001161522 exon14 c.83249-101A>G 0.341454 0.2847 Uncertain 4_166259161_C->T 4 166259161 166259161 C T snp 221.84 1/1 18 8 0 8 1.0 intronic rs12501541 MSMO1 AR NM_006745 exon3 c.4567+72C>T 0.310304 0.3462 Uncertain 4_166307262_T->C 4 166307262 166307262 T C snp 59.74 1/1 6 3 0 3 1.0 intronic rs11100610 CPE AU NM_001873 exon1 c.307+6582T>C 0.645367 0.6002 Uncertain 4_166307302_G->A 4 166307302 166307302 G A snp 146.03 1/1 12 7 0 7 1.0 intronic rs12509669 CPE AU NM_001873 exon1 c.307+6622G>A 0.295128 0.3671 Uncertain 4_166403504_G->A 4 166403504 166403504 G A snp 1656.77 0/1 99 185 106 79 0.43 exonic rs80117208 CPE AU synonymous SNV NM_001873 exon4 c.G783A p.T261T 0.00838658 0.0407 0.000077 0.0039 0.0481 Uncertain 4_166403574_A->G 4 166403574 166403574 A G snp 2180.77 1/1 99 73 0 73 1.0 intronic rs2289230 CPE AU NM_001873 exon4 c.103138+63A>G 0.482029 0.4266 Uncertain 4_166405584_C->T 4 166405584 166405584 C T snp 2325.77 0/1 99 196 94 102 0.52 exonic rs4690821 CPE AU synonymous SNV NM_001873 exon5 c.C801T p.H267H 0.0599042 0.1458 0.041673 0.0607 0.1498 Uncertain 4_166405800_T->C 4 166405800 166405800 T C snp 274.77 0/1 99 25 15 10 0.4 intronic rs2304592 CPE AU NM_001873 exon5 c.105383+44T>C 0.117612 0.1637 0.098185 0.0783 0.1625 Uncertain 4_166408517_T->C 4 166408517 166408517 T C snp 1689.77 0/1 99 140 65 75 0.54 intronic rs2276931 CPE AU NM_001873 exon6 c.108216-72T>C 0.0722843 0.1647 Uncertain 4_166408782_T->G 4 166408782 166408782 T G snp 2619.77 1/1 99 85 1 84 0.99 intronic rs3822062 CPE AU NM_001873 exon6 c.108356+53T>G 0.469848 0.4236 Uncertain 4_166416643_A->G 4 166416643 166416643 A G snp 895.77 0/1 99 59 26 33 0.56 intronic rs7692951 CPE AU NM_001873 exon8 c.116337-67A>G 0.3127 0.372 Uncertain 4_166910438_G->A 4 166910438 166910438 G A snp 68.77 0/1 97 10 7 3 0.3 intronic rs74509431 TLL1 AD NM_001204760 exon2 c.115476-94G>A 0.0169728 0.0466 Uncertain 4_166916394_G->A 4 166916394 166916394 G A snp 351.77 0/1 99 33 20 13 0.39 intronic rs77635855 TLL1 AD NM_001204760 exon5 c.121274+64G>A 0.0173722 0.0605 Uncertain 4_166928911_C->A 4 166928911 166928911 C A snp 673.77 1/1 51 24 0 24 1.0 intronic rs12649793 TLL1 AD NM_001204760 exon7 c.134038-183C>A 0.523163 0.5546 Uncertain 4_166929276_A->G 4 166929276 166929276 A G snp 1116.77 1/1 81 36 0 36 1.0 intronic rs3775321 TLL1 AD NM_001204760 exon7 c.134144+76A>G 0.542532 0.5546 Uncertain 4_166976148_G->A 4 166976148 166976148 G A snp 59.77 0/1 88 15 12 3 0.2 intronic rs186834881 TLL1 AD NM_012464 exon13 c.181171-79G>A 0.000199681 0.001 Uncertain 4_166978220_G->C 4 166978220 166978220 G C snp 114.77 0/1 54 7 2 5 0.71 intronic rs41280517 TLL1 AD NM_012464 exon14 c.183279-115G>C 0.0513179 0.125 Uncertain 4_166978540_T->- 4 166978540 166978540 T - indel 817.73 0/1 99 34 12 22 0.65 intronic rs59089153 TLL1 AD NM_012464 exon14 c.183405+79delT Uncertain 4_166981044_G->A 4 166981044 166981044 G A snp 88.28 1/1 9 3 0 3 1.0 intronic rs3756017 TLL1 AD NM_012464 exon15 c.186123-135G>A 0.428115 0.4901 Uncertain 4_166986693_A->G 4 166986693 166986693 A G snp 43.77 0/1 66 4 2 2 0.5 intronic rs7678997 TLL1 AD NM_012464 exon16 c.191778-141A>G 0.430511 0.4831 Uncertain 4_167012242_T->- 4 167012242 167012242 T - indel 633.73 1/1 87 30 0 30 1.0 intronic rs33952157 TLL1 AD NM_012464 exon19 c.217223-37delT 0.90635 0.996 0.2541 0.4419 Uncertain 4_167012249_T->A 4 167012249 167012249 T A snp 372.77 0/1 99 33 16 17 0.52 intronic rs60017576 TLL1 AD NM_012464 exon19 c.217223-30T>A 0.527556 0.4484 0.0672 0.0007 Uncertain 4_167012250_T->A 4 167012250 167012250 T A snp 827.77 1/1 60 33 0 33 1.0 intronic rs33986267 TLL1 AD NM_012464 exon19 c.217223-29T>A 0.796526 0.8611 0.2763 0.4074 Uncertain 4_167012381_G->A 4 167012381 167012381 G A snp 4833.77 1/1 99 183 0 183 1.0 exonic rs2654492 TLL1 AD synonymous SNV NM_012464 exon19 c.G2544A p.L848L 0.90615 0.996 0.900892 0.9510 0.9969 Uncertain 4_167012480_T->C 4 167012480 167012480 T C snp 3397.77 1/1 99 118 0 118 1.0 exonic rs2646914 TLL1 AD synonymous SNV NM_012464 exon19 c.T2643C p.A881A 0.969848 1 0.971398 0.9920 1 Uncertain 4_167012506_A->G 4 167012506 167012506 A G snp 2401.77 1/1 99 80 0 80 1.0 intronic rs2254420 TLL1 AD NM_012464 exon19 c.217437+13A>G 0.90655 0.996 0.900723 0.9511 0.9968 Uncertain 4_167012543_T->C 4 167012543 167012543 T C snp 1367.77 1/1 99 38 0 38 1.0 intronic rs2654493 TLL1 AD NM_012464 exon19 c.217437+50T>C 0.90615 0.996 0.902003 0.9519 0.9966 Uncertain 4_167020644_A->G 4 167020644 167020644 A G snp 1678.77 0/1 99 155 83 72 0.46 exonic rs2291822 TLL1 AD nonsynonymous SNV NM_012464 exon20 c.A2872G p.T958A 0.164736 0.4325 0.092265 0.0954 0.4399 0.34 T 0.000 P -0.902 T 0.0 T 0.004 T Pathogenic 4_167658880_G->A 4 167658880 167658880 G A snp 261.8 1/1 21 7 0 7 1.0 intronic rs7675734 SPOCK3 AU NM_001204354 exon2 c.2684+125G>A 0.986821 1 Uncertain 4_167833973_A->G 4 167833973 167833973 A G snp 178.9 1/1 15 5 0 5 1.0 intronic rs62354113 SPOCK3 AU NM_001204358 exon4 c.158247+79A>G 0.359026 0.6468 Uncertain 4_167932327_T->C 4 167932327 167932327 T C snp 2568.77 1/1 99 89 0 89 1.0 intronic rs2558141 SPOCK3 AU NM_001204358 exon5 c.245967+10713T>C 0.525359 0.8254 Uncertain 4_169279170_A->G 4 169279170 169279170 A G snp 344.78 1/1 27 9 0 9 1.0 UTR3 rs497151 DDX60L AU 0.713458 0.8393 Uncertain 4_169282112_C->T 4 169282112 169282112 C T snp 330.78 1/1 27 9 0 9 1.0 intronic rs2684346 DDX60L AU NM_001012967 exon2 c.3002-187C>T 0.710863 0.8393 Uncertain 4_169282232_G->A 4 169282232 169282232 G A snp 896.77 1/1 63 36 0 36 1.0 intronic rs2684347 DDX60L AU NM_001012967 exon2 c.3002-67G>A 0.712859 0.8393 0.709374 Uncertain 4_169282355_T->C 4 169282355 169282355 T C snp 983.77 1/1 72 37 0 37 1.0 exonic rs2684348 DDX60L AU nonsynonymous SNV NM_001012967 exon37 c.A4936G p.M1646V 0.578474 0.75 0.581439 0.6378 0.7441 0.2 T 0.0 P -1.037 T 0.01 T 0.006 T Pathogenic 4_169292759_T->C 4 169292759 169292759 T C snp 1531.77 1/1 99 50 0 50 1.0 splicing rs6829368 DDX60L AU NM_001012967 exon3 c.13465-3T>C 0.817891 0.8383 0.830255 0.7909 0.8009 Pathogenic 4_169296802_C->T 4 169296802 169296802 C T snp 243.8 1/1 21 7 0 7 1.0 intronic rs1489227 DDX60L AU NM_001012967 exon5 c.17378+127C>T 0.714657 0.8631 Uncertain 4_169299528_T->C 4 169299528 169299528 T C snp 976.77 1/1 69 39 0 39 1.0 exonic rs13110927 DDX60L AU nonsynonymous SNV NM_001012967 exon33 c.A4462G p.N1488D 0.45028 0.6339 0.427698 0.5321 0.6517 0.58 T 0.0 P -0.960 T 0.0 T 0.001 T Pathogenic 4_169299676_T->G 4 169299676 169299676 T G snp 1010.77 1/1 72 38 0 38 1.0 intronic rs10517990 DDX60L AU NM_001012967 exon6 c.20329+50T>G 0.770367 0.871 0.765282 0.7733 0.8594 Uncertain 4_169301059_T->C 4 169301059 169301059 T C snp 219.84 1/1 18 7 0 7 1.0 intronic rs1489232 DDX60L AU NM_001012967 exon8 c.21684+78T>C 0.84984 0.999 Uncertain 4_169306106_A->C 4 169306106 169306106 A C snp 50.74 1/1 6 2 0 2 1.0 intronic rs902003 DDX60L AU NM_001012967 exon9 c.26666+143A>C 0.555711 0.7202 Uncertain 4_169315572_A->- 4 169315572 169315572 A - indel 1490.73 1/1 99 36 0 36 1.0 intronic rs11337868 DDX60L AU NM_001012967 exon11 c.36314-39delA 0.991014 1 0.993415 0.9980 0.9997 Uncertain 4_169315760_C->A 4 169315760 169315760 C A snp 5532.77 1/1 99 201 1 200 1.0 exonic rs3749499 DDX60L AU nonsynonymous SNV NM_001012967 exon28 c.G3666T p.E1222D 0.874002 0.9018 0.910540 0.9578 0.9108 0.31 T 0.0 P -0.962 T 0.001 T 0.001 T Pathogenic 4_169317081_C->A 4 169317081 169317081 C A snp 190.9 1/1 15 8 0 8 1.0 intronic rs1826028 DDX60L AU NM_001012967 exon12 c.37812-28C>A 0.557109 0.623 0.567165 0.5616 0.6181 Uncertain 4_169317279_C->T 4 169317279 169317279 C T snp 136.03 1/1 12 4 0 4 1.0 splicing rs3857035 DDX60L AU NM_001291510 exon4 c.5606+1C>T 0.523363 0.621 0.532783 0.5617 0.5988 0.0 P Pathogenic 4_169336662_T->C 4 169336662 169336662 T C snp 872.77 1/1 63 33 0 33 1.0 exonic rs4692661 DDX60L AU nonsynonymous SNV NM_001012967 exon22 c.A2876G p.Y959C 1 1 1 1 0.12 T 0.000 P -1.049 T 0.128 T 0.117 T Pathogenic 4_169340608_T->C 4 169340608 169340608 T C snp 430.77 0/1 99 51 32 19 0.37 intronic DDX60L AU NM_001012967 exon20 c.61251+60T>C Uncertain 4_169340639_C->A 4 169340639 169340639 C A snp 907.77 1/1 66 32 0 32 1.0 intronic rs1021318 DDX60L AU NM_001012967 exon20 c.61251+91C>A 0.440695 0.5794 Uncertain 4_169341435_A->G 4 169341435 169341435 A G snp 3159.77 1/1 99 120 0 120 1.0 exonic rs2130145 DDX60L AU nonsynonymous SNV NM_001012967 exon18 c.T2491C p.C831R 0.985024 1 0.984147 0.9951 1 1 T 0.0 P -1.004 T 0.0 T 0.0 T Pathogenic 4_169341609_ACACATACACACACACACAC->- 4 169341609 169341628 ACACATACACACACACACAC - indel 6669.73 1/1 99 59 1 58 0.98 intronic rs141226900 DDX60L AU NM_001012967 exon21 c.62234+78_62234+97delACACATACACACACACACAC Uncertain 4_169362557_C->G 4 169362557 169362557 C G snp 4811.77 1/1 99 181 2 179 0.99 exonic rs13151700 DDX60L AU nonsynonymous SNV NM_001012967 exon10 c.G1225C p.V409L 0.334265 0.6141 0.259350 0.3579 0.6198 0.74 T 0.001 P -1.026 T 0.378 T 0.065 T Pathogenic 4_169369820_T->A 4 169369820 169369820 T A snp 899.77 1/1 66 34 0 34 1.0 exonic rs2712113 DDX60L AU synonymous SNV NM_001012967 exon9 c.A1107T p.I369I 0.823882 0.9087 0.781945 0.8137 0.8890 Uncertain 4_169369853_A->T 4 169369853 169369853 A T snp 1220.77 1/1 87 47 0 47 1.0 exonic rs2712114 DDX60L AU synonymous SNV NM_001012967 exon9 c.T1074A p.S358S 0.739617 0.9087 0.702019 0.7836 0.8919 Uncertain 4_169369920_C->T 4 169369920 169369920 C T snp 1439.77 1/1 99 59 1 58 0.98 exonic rs12507582 DDX60L AU nonsynonymous SNV NM_001012967 exon9 c.G1007A p.C336Y 0.328474 0.619 0.251447 0.3539 0.6213 0 D 0.011 P -0.954 T 1.0 D 0.999 D Pathogenic 4_169374487_A->G 4 169374487 169374487 A G snp 1859.77 1/1 99 63 0 63 1.0 intronic rs2634953 DDX60L AU NM_001012967 exon31 c.95136+54A>G 0.747204 0.9087 Uncertain 4_169382822_-->C 4 169382822 169382822 - C indel 780.73 1/1 54 18 0 18 1.0 intronic rs5863935 DDX60L AU NM_001012967 exon34 c.103552-27insC 0.330272 0.6131 0.253062 0.4295 0.6792 Uncertain 4_169393092_AAT->- 4 169393092 169393094 AAT - indel 2797.73 1/1 99 60 0 60 1.0 splicing rs149184634 DDX60L AU NM_001012967 exon35 c.113790+5_113790+7delAAT 0.014377 0.0665 0.0090 0.1164 Pathogenic 4_169393179_T->G 4 169393179 169393179 T G snp 212.84 1/1 18 6 0 6 1.0 intronic rs12505232 DDX60L AU NM_001012967 exon35 c.113790+92T>G 0.733626 0.8938 Uncertain 4_169393595_A->G 4 169393595 169393595 A G snp 1632.77 1/1 99 63 0 63 1.0 intronic rs13149639 DDX60L AU NM_001012967 exon36 c.114308-10A>G 0.733626 0.8938 0.700791 0.7698 0.8620 Uncertain 4_169393972_-->A 4 169393972 169393972 - A indel 3499.73 1/1 99 115 0 115 1.0 intronic rs113626526 DDX60L AU NM_001012967 exon37 c.114663+12insA 0.733826 0.8938 Uncertain 4_169799163_C->G 4 169799163 169799163 C G snp 640.77 0/1 99 69 36 33 0.48 intronic rs550499593 PALLD AU NM_001166109 exon10 c.209531-12909C>G 0.00399361 0.0188 0.0008 0.0231 0.66 T 1 D -1.028 T 0.3 T 0.058 T CLINSIG=unknown;CLNDBN=Pancreatic_adenocarcinoma;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000123161.1;CLNDSDB=MedGen;CLNDSDBID=C0281361 Uncertain 4_169812313_T->C 4 169812313 169812313 T C snp 1333.77 1/1 96 41 0 41 1.0 intronic rs6827082 PALLD AU NM_001166109 exon10 c.209667+105T>C 0.726837 0.9702 Uncertain 4_169835048_C->G 4 169835048 169835048 C G snp 1637.77 1/1 99 56 0 56 1.0 intronic rs1532651 PALLD AU NM_001166109 exon14 c.232536-29C>G 0.707069 0.9643 0.649546 0.7567 0.9604 Uncertain 4_169835324_T->G 4 169835324 169835324 T G snp 99.28 1/1 9 3 0 3 1.0 intronic rs4324524 PALLD AU NM_001166109 exon14 c.232631+152T>G 0.566893 0.9028 Uncertain 4_169842976_T->C 4 169842976 169842976 T C snp 56.74 1/1 6 2 0 2 1.0 intronic rs17615157 PALLD AU NM_001166109 exon16 c.240351+84T>C 0.56889 0.9018 Uncertain 4_169846255_T->C 4 169846255 169846255 T C snp 2506.77 1/1 99 78 0 78 1.0 intronic rs3733656 PALLD AU NM_001166109 exon18 c.243688+26T>C 0.714457 0.9643 0.661848 0.7599 0.9609 Uncertain 4_169846360_CT->- 4 169846360 169846361 CT - indel 4039.73 1/1 99 96 0 96 1.0 intronic rs536545858 PALLD AU NM_001166108 exon21 c.413728-23_413728-22delCT 0.717851 0.9702 0.7646 0.9644 CLINSIG=non-pathogenic;CLNDBN=Hereditary_cancer-predisposing_syndrome;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000160879.1;CLNDSDB=MedGen:SNOMED_CT;CLNDSDBID=C0027672:699346009 Uncertain 4_169928842_G->T 4 169928842 169928842 G T snp 977.77 1/1 69 39 0 39 1.0 exonic rs2877380 CBR4 AU nonsynonymous SNV NM_032783 exon2 c.C208A p.L70M 0.720048 0.9712 0.667359 0.7685 0.9649 0.000 P -0.951 T 0.005 T 0.004 T Pathogenic 4_169931268_G->A 4 169931268 169931268 G A snp 2226.77 1/1 99 82 0 82 1.0 UTR5 rs28371817 CBR4 AU 0.809904 0.998 0.774258 0.8307 0.998 Uncertain 4_169931274_G->A 4 169931274 169931274 G A snp 2039.77 1/1 99 77 0 77 1.0 UTR5 rs2279038 CBR4 AU 0.588059 0.8938 0.505843 0.6484 0.8840 Uncertain 4_169931288_T->C 4 169931288 169931288 T C snp 1742.77 1/1 99 64 0 64 1.0 UTR5 rs2279039 CBR4 AU 0.761581 0.9712 0.704213 0.7733 0.9627 Uncertain 4_170017508_T->C 4 170017508 170017508 T C snp 216.84 1/1 18 6 0 6 1.0 UTR3 rs2706747 SH3RF1 AU 0.943091 1 Uncertain 4_170037323_G->A 4 170037323 170037323 G A snp 565.77 0/1 99 31 13 18 0.58 intronic rs10017472 SH3RF1 AU NM_020870 exon3 c.19750-96G>A 0.464058 0.3036 Uncertain 4_170038575_A->T 4 170038575 170038575 A T snp 65.77 0/1 94 11 7 4 0.36 intronic rs4074347 SH3RF1 AU NM_020870 exon4 c.21004-98A>T 0.430112 0.2857 Uncertain 4_170038576_A->T 4 170038576 170038576 A T snp 65.77 0/1 94 11 8 3 0.27 intronic rs4074346 SH3RF1 AU NM_020870 exon4 c.21004-97A>T 0.430112 0.2857 Uncertain 4_170038894_A->G 4 170038894 170038894 A G snp 1681.77 0/1 99 133 62 71 0.53 exonic rs74798922 SH3RF1 AU synonymous SNV NM_020870 exon9 c.T1557C p.S519S 0.0383387 0.125 0.008996 0.0270 0.1351 Uncertain 4_170077835_A->- 4 170077835 170077835 A - indel 244.73 0/1 99 35 17 18 0.51 splicing rs146400483 SH3RF1 AU NM_020870 exon10 c.60161+5delA 0.130591 0.1845 0.088334 0.0895 0.1923 Pathogenic 4_170315496_C->T 4 170315496 170315496 C T snp 414.77 0/1 99 25 10 15 0.6 UTR3 rs4692721 NEK1 AR,AO 0.905751 0.8026 Uncertain 4_170346090_C->T 4 170346090 170346090 C T snp 77.77 0/1 96 6 3 3 0.5 intronic rs4692723 NEK1 AR,AO NM_012224 exon6 c.30291+139C>T 0.796326 0.8175 Uncertain 4_170354836_C->T 4 170354836 170354836 C T snp 604.77 0/1 99 72 44 28 0.39 intronic rs7680152 NEK1 AR,AO NM_012224 exon8 c.39156+20C>T 0.795327 0.8185 0.792301 0.8722 0.8385 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000081535.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 4_170354873_T->C 4 170354873 170354873 T C snp 246.77 0/1 99 43 28 15 0.35 intronic rs13139925 NEK1 AR,AO NM_012224 exon8 c.39156+57T>C 0.686502 0.7837 Uncertain 4_170398454_T->C 4 170398454 170398454 T C snp 756.77 0/1 99 52 20 32 0.62 exonic rs34099167 NEK1 AR,AO nonsynonymous SNV NM_012224 exon24 c.A2171G p.E724G 0.105032 0.1825 0.101869 0.1403 0.2452 0.18 T 0.997 P -1.081 T 0.971 D 0.828 D Pathogenic 4_170398717_C->T 4 170398717 170398717 C T snp 121.77 0/1 99 11 5 6 0.55 intronic rs67794467 NEK1 AR,AO NM_012224 exon12 c.82988+69C>T 0.303315 0.2133 0.298458 Uncertain 4_170428087_A->- 4 170428087 170428087 A - indel 173.73 0/1 55 11 3 8 0.73 intronic rs11335571 NEK1 AR,AO NM_012224 exon14 c.112527-100delA 0.314297 0.2173 Uncertain 4_170428331_G->T 4 170428331 170428331 G T snp 956.77 0/1 99 57 20 37 0.65 intronic rs6855803 NEK1 AR,AO NM_012224 exon14 c.112623+48G>T 0.303115 0.2133 0.294843 0.3085 0.3312 Uncertain 4_170428843_C->A 4 170428843 170428843 C A snp 403.77 0/1 99 49 29 20 0.41 intronic rs17054977 NEK1 AR,AO NM_012224 exon15 c.113205-22C>A 0.203275 0.1825 0.205424 0.1310 0.1645 Uncertain 4_170429241_T->A 4 170429241 170429241 T A snp 267.77 0/1 99 13 5 8 0.62 intronic rs66858776 NEK1 AR,AO NM_012224 exon16 c.113738-157T>A 0.204073 0.1825 Uncertain 4_170429359_C->T 4 170429359 170429359 C T snp 1858.77 0/1 99 172 87 85 0.49 intronic rs66509122 NEK1 AR,AO NM_012224 exon16 c.113738-39C>T 0.311701 0.2173 0.301549 0.2599 0.2489 Uncertain 4_170483153_T->A 4 170483153 170483153 T A snp 40.77 0/1 33 3 1 2 0.67 intronic rs10022479 NEK1 AR,AO NM_012224 exon22 c.167382+111T>A 0.696685 0.7927 Uncertain 4_170501850_A->T 4 170501850 170501850 A T snp 101.77 0/1 99 14 10 4 0.29 intronic rs7665092 NEK1 AR,AO NM_012224 exon25 c.186332-142A>T 0.304513 0.2133 Uncertain 4_170501954_T->C 4 170501954 170501954 T C snp 603.77 0/1 99 65 36 29 0.45 intronic rs7670271 NEK1 AR,AO NM_012224 exon25 c.186332-38T>C 0.304513 0.2133 0.270131 0.2153 0.2332 Uncertain 4_170508586_T->C 4 170508586 170508586 T C snp 40.77 0/1 69 8 5 3 0.38 intronic rs9993493 NEK1 AR,AO NM_012224 exon27 c.193049-123T>C 0.303514 0.2133 Uncertain 4_170581570_G->A 4 170581570 170581570 G A snp 3888.77 1/1 99 137 0 137 1.0 exonic rs4692739 CLCN3 AU nonsynonymous SNV NM_001243374 exon1 c.G50A p.S17N 0.97484 1 0.9949 1 0.54 T 0.017 P -0.954 T 0.0 T 0.0 T Pathogenic 4_170584880_G->A 4 170584880 170584880 G A snp 490.77 0/1 99 52 28 24 0.46 intronic rs62333166 CLCN3 AU NM_001243374 exon1 c.79+3281G>A 0.120607 0.1815 Uncertain 4_170601449_T->C 4 170601449 170601449 T C snp 61.77 0/1 90 19 14 5 0.26 intronic rs3756284 CLCN3 AU NM_001243372 exon3 c.44279+91T>C 0.10024 0.1825 Uncertain 4_170616918_G->A 4 170616918 170616918 G A snp 232.84 1/1 18 9 0 9 1.0 intronic rs2062609 CLCN3 AU NM_173872 exon8 c.59764+75G>A 0.985423 1 Uncertain 4_170623929_AAAAAAAAAAAA->- 4 170623929 170623940 AAAAAAAAAAAA - indel 2184.87 0/1 15 17 1 16 0.94 intronic rs60812626 CLCN3 AU NM_001243372 exon9 c.68069-1219_68069-1208delAAAAAAAAAAAA 0.980431 1 0.5940 0.75 Uncertain 4_170623946_A->G 4 170623946 170623946 A G snp 164.77 0/1 99 27 20 7 0.26 intronic rs11932759 CLCN3 AU NM_001243372 exon9 c.68069-1202A>G 0.0068 0.0441 Uncertain 4_170623982_C->G 4 170623982 170623982 C G snp 519.77 0/1 99 53 30 23 0.43 intronic rs11946332 CLCN3 AU NM_001243372 exon9 c.68069-1166C>G 0.119209 0.1815 0.3072 0.3088 Uncertain 4_170628474_A->G 4 170628474 170628474 A G snp 300.77 0/1 99 27 14 13 0.48 intronic rs1566522 CLCN3 AU NM_001243372 exon10 c.71338+57A>G 0.46885 0.747 Uncertain 4_170628524_A->G 4 170628524 170628524 A G snp 188.77 0/1 99 10 4 6 0.6 intronic rs9996636 CLCN3 AU NM_001243372 exon10 c.71338+107A>G 0.444688 0.253 Uncertain 4_170634390_C->T 4 170634390 170634390 C T snp 1634.77 0/1 99 133 63 70 0.53 exonic rs1058868 CLCN3 AU synonymous SNV NM_001243372 exon11 c.C2229T p.I743I 0.117612 0.1766 0.114255 0.1103 0.1608 Uncertain 4_170638892_CT->- 4 170638892 170638893 CT - indel 1835.73 0/1 99 68 27 41 0.6 intronic rs113528256 CLCN3 AU NM_173872 exon13 c.81863-50_81863-49delCT 0.120407 0.1835 0.115833 Uncertain 4_170640993_T->C 4 170640993 170640993 T C snp 770.77 0/1 99 50 19 31 0.62 intronic rs28704165 CLCN3 AU NM_001243372 exon12 c.83978-64T>C 0.207867 0.1835 Uncertain 4_170650607_AGA->- 4 170650607 170650609 AGA - indel 839.73 1/1 45 15 0 15 1.0 downstream rs3074610 C4orf27 AU 0.942292 0.9812 Uncertain 4_170663235_C->T 4 170663235 170663235 C T snp 1572.77 1/1 99 58 0 58 1.0 exonic rs1047642 C4orf27 AU nonsynonymous SNV NM_017867 exon5 c.G521A p.R174K 0.789537 0.9087 0.781485 0.8177 0.9203 1 T 0.000 P -0.964 T 0.0 T 0.0 T Pathogenic 4_170663321_C->G 4 170663321 170663321 C G snp 783.77 1/1 57 26 0 26 1.0 intronic rs6849004 C4orf27 AU NM_017867 exon4 c.12530+63C>G 0.949081 0.9831 Uncertain 4_170678993_T->C 4 170678993 170678993 T C snp 3740.77 1/1 99 139 0 139 1.0 exonic rs11540095 C4orf27 AU synonymous SNV NM_017867 exon1 c.A36G p.G12G 0.777356 0.881 0.776587 0.8033 0.8909 Uncertain 4_170987636_A->G 4 170987636 170987636 A G snp 5708.77 1/1 99 217 2 215 0.99 intronic rs1480544 AADAT AU NM_016228 exon4 c.5551+7A>G 0.735423 0.9911 0.603644 0.5744 0.9814 Uncertain 4_170989708_-->A 4 170989708 170989708 - A indel 186.75 1/1 24 8 0 8 1.0 intronic rs3214945 AADAT AU NM_016228 exon6 c.7663-33insA 0.558107 0.8085 0.479629 0.4633 0.8208 Uncertain 4_170991812_GGTT->- 4 170991812 170991815 GGTT - indel 404.73 0/1 99 21 12 9 0.43 intronic rs149355054 AADAT AU NM_016228 exon8 c.9725+9_9725+12delGGTT 0.327077 0.7004 0.220286 0.2782 0.6442 ID=COSM327989;OCCURENCE=1(pancreas) Uncertain 4_170994555_T->- 4 170994555 170994555 T - indel 337.77 1/1 21 29 1 28 0.97 intronic rs561279126 AADAT AU NM_016228 exon9 c.12418+59delT 0.611222 0.8234 Uncertain 4_170994662_A->T 4 170994662 170994662 A T snp 94.28 1/1 9 3 0 3 1.0 intronic rs2622070 AADAT AU NM_016228 exon9 c.12418+166A>T 0.362819 0.4831 Uncertain 4_170999860_G->A 4 170999860 170999860 G A snp 2112.77 1/1 99 75 0 75 1.0 intronic rs2622068 AADAT AU NM_016228 exon10 c.17656+126G>A 0.694289 0.9782 Uncertain 4_172735897_C->G 4 172735897 172735897 C G snp 2543.77 1/1 99 78 0 78 1.0 intronic rs3796654 GALNTL6 AU NM_001034845 exon2 c.138+28C>G 0.722644 0.8065 0.748424 0.8670 0.8289 0 D 0.0 P -1.067 T Uncertain 4_172973421_G->A 4 172973421 172973421 G A snp 727.77 1/1 54 19 0 19 1.0 intronic rs1505494 GALNTL6 AU NM_001034845 exon3 c.415075-177385G>A 0.967652 1 Uncertain 4_172973424_AG->- 4 172973424 172973425 AG - indel 944.73 1/1 63 21 0 21 1.0 intronic rs10572855 GALNTL6 AU NM_001034845 exon3 c.415075-177382_415075-177381delAG 0.769169 0.747 Uncertain 4_172973580_C->A 4 172973580 172973580 C A snp 2642.77 1/1 99 97 0 97 1.0 intronic rs1505495 GALNTL6 AU NM_001034845 exon3 c.415075-177226C>A 0.76877 0.744 0.8486 0.7464 Uncertain 4_173232679_A->G 4 173232679 173232679 A G snp 1677.77 1/1 99 43 0 43 1.0 intronic rs2136033 GALNTL6 AU NM_001034845 exon4 c.497033-85A>G 0.964257 1 Uncertain 4_173232944_G->T 4 173232944 173232944 G T snp 2238.77 1/1 99 77 1 76 0.99 intronic rs168011 GALNTL6 AU NM_001034845 exon4 c.497172+41G>T 0.578874 0.7827 0.517069 0.6400 0.7743 Uncertain 4_173803914_T->C 4 173803914 173803914 T C snp 1734.77 0/1 99 142 66 76 0.54 intronic rs6810619 GALNTL6 AU NM_001034845 exon8 c.1068209-26T>C 0.282548 0.1448 0.380363 0.3475 0.1347 Uncertain 4_173873171_G->- 4 173873171 173873171 G - indel 3413.73 1/1 99 87 0 87 1.0 intronic rs11322401 GALNTL6 AU NM_001034845 exon10 c.1137456-16delG 0.997204 1 0.9960 0.9961 Uncertain 4_173930479_A->G 4 173930479 173930479 A G snp 1104.77 1/1 81 30 0 30 1.0 intronic rs4696042 GALNTL6 AU NM_001034845 exon11 c.1194714+34A>G 0.987819 1 0.984392 0.9960 1 Uncertain 4_174090004_G->A 4 174090004 174090004 G A snp 1550.77 0/1 99 154 80 74 0.48 exonic rs3733477 GALNT7 AU synonymous SNV NM_017423 exon1 c.G18A p.G6G 0.641573 0.7183 0.654775 0.6615 0.6880 Uncertain 4_174217122_A->G 4 174217122 174217122 A G snp 437.77 0/1 99 25 10 15 0.6 intronic rs4696055 GALNT7 AU NM_017423 exon5 c.127008+128A>G 0.103435 0.002 Uncertain 4_174292472_G->T 4 174292472 174292472 G T snp 652.77 0/1 99 63 30 33 0.52 exonic rs184876228 SAP30 AU nonsynonymous SNV NM_003864 exon1 c.G139T p.A47S 0.0311502 0.0883 0.0604 0.5 0.43 T 1 N -1.076 T 0.0 T 0.001 T Pathogenic 4_174310777_A->T 4 174310777 174310777 A T snp 468.77 1/1 36 14 0 14 1.0 intronic rs4695833 SCRG1 AU NM_007281 exon1 c.55+1231A>T 0.93151 0.9653 Uncertain 4_174537063_G->A 4 174537063 174537063 G A snp 864.77 1/1 63 30 0 30 1.0 intergenic rs4413383 HAND2-AS1 AU 0.872204 0.995 0.8779 0.9916 Uncertain 4_174537221_T->C 4 174537221 174537221 T C snp 2696.77 0/1 99 234 116 118 0.5 intergenic rs11726970 HAND2-AS1 AU 0.252396 0.3244 0.231509 0.2878 0.3142 Uncertain 4_174537356_T->A 4 174537356 174537356 T A snp 3130.77 0/1 99 250 132 118 0.47 intergenic rs34402795 HAND2-AS1 AU 0.305112 0.3244 0.291494 0.3051 0.3137 Uncertain 4_174537471_G->A 4 174537471 174537471 G A snp 2799.77 0/1 99 245 129 116 0.47 intergenic rs13103221 HAND2-AS1 AU 0.252396 0.3244 0.232201 0.2880 0.3136 Uncertain 4_175158868_C->T 4 175158868 175158868 C T snp 291.78 1/1 24 8 0 8 1.0 intronic rs10026413 FBXO8 AU NM_012180 exon1 c.188+118C>T 0.997804 1 Uncertain 4_175237408_T->C 4 175237408 175237408 T C snp 1268.77 0/1 99 132 71 61 0.46 exonic rs1553669 CEP44 AU synonymous SNV NM_001040157 exon10 c.T1053C p.T351T 0.686502 0.744 0.719668 0.6860 0.7466 Uncertain 4_175414246_A->G 4 175414246 175414246 A G snp 96.28 1/1 9 3 0 3 1.0 intronic rs2612694 HPGD AR,AD NM_000860 exon2 c.1195-55A>G 0.756589 0.8125 Uncertain 4_175414278_G->C 4 175414278 175414278 G C snp 216.77 0/1 99 16 8 8 0.5 intronic rs34299544 HPGD AR,AD NM_000860 exon2 c.1195-23G>C 0.247204 0.5298 0.153140 0.2620 0.5576 Uncertain 4_175429213_C->T 4 175429213 175429213 C T snp 2525.77 1/1 99 88 0 88 1.0 intronic rs3846298 HPGD AR,AD NM_000860 exon4 c.16740-633C>T 0.657947 0.8095 0.6726 0.8232 Uncertain 4_175429371_T->- 4 175429371 175429371 T - indel 5887.73 1/1 99 145 0 145 1.0 intronic rs5864277 HPGD AR,AD NM_000860 exon4 c.16740-475delT 0.673123 0.8234 0.6584 0.8434 Uncertain 4_175565245_T->C 4 175565245 175565245 T C snp 1469.77 0/1 99 126 62 64 0.51 intronic rs4235212 GLRA3 AU NM_006529 exon1 c.279+30T>C 0.316294 0.3919 0.275769 0.3550 0.3991 Uncertain 4_175580119_T->C 4 175580119 175580119 T C snp 86.28 1/1 9 3 0 3 1.0 intronic rs6553802 GLRA3 AU NM_006529 exon3 c.15268-85T>C 0.782548 0.7679 Uncertain 4_175598334_T->C 4 175598334 175598334 T C snp 2205.77 1/1 99 80 0 80 1.0 exonic rs6812439 GLRA3 AU synonymous SNV NM_001042543 exon7 c.A822G p.S274S 0.976438 1 0.977087 0.9931 1 Uncertain 4_175649861_T->G 4 175649861 175649861 T G snp 379.77 1/1 30 11 0 11 1.0 intronic rs1872548 GLRA3 AU NM_006529 exon7 c.84913+12T>G 0.530751 0.372 0.588680 0.6170 0.3371 Uncertain 4_175688138_A->G 4 175688138 175688138 A G snp 4540.77 1/1 99 186 1 185 0.99 exonic rs7696263 GLRA3 AU synonymous SNV NM_001042543 exon3 c.T243C p.F81F 0.790735 0.998 0.677072 0.7763 0.9968 Uncertain 4_175688141_G->A 4 175688141 175688141 G A snp 2349.77 0/1 99 187 81 106 0.57 exonic rs12651268 GLRA3 AU synonymous SNV NM_001042543 exon3 c.C240T p.S80S 0.338658 0.5198 0.051822 0.3528 0.4987 Uncertain 4_176561114_T->C 4 176561114 176561114 T C snp 217.77 0/1 99 17 10 7 0.41 intronic rs113096961 GPM6A AU NM_005277 exon2 c.5224-165T>C 0.0369409 0.0486 Uncertain 4_176561168_C->A 4 176561168 176561168 C A snp 471.77 0/1 99 54 31 23 0.43 intronic rs17313697 GPM6A AU NM_005277 exon2 c.5224-111C>A 0.0303514 0.0486 Uncertain 4_176562144_A->C 4 176562144 176562144 A C snp 74.77 0/1 99 10 7 3 0.3 intronic rs729721 GPM6A AU NM_005277 exon3 c.5925+164A>C 0.0303514 0.0486 Uncertain 4_176892057_T->- 4 176892057 176892057 T - indel 1034.73 0/1 99 74 32 42 0.57 intronic rs11366469 GPM6A AU NM_005277 exon8 c.367404-31402delT 0.265575 0.2113 0.2496 0.1894 Uncertain 4_177073026_G->A 4 177073026 177073026 G A snp 5727.77 1/1 99 217 0 217 1.0 exonic rs4690661 WDR17 AU nonsynonymous SNV NM_181265 exon17 c.G2368A p.A790T 0.975839 1 0.979779 0.9935 1 0.9 T 0.000 P -0.950 T 0.0 T 0.0 T Pathogenic 4_177087322_C->T 4 177087322 177087322 C T snp 338.78 1/1 27 12 0 12 1.0 intronic rs4388031 WDR17 AU NM_170710 exon24 c.69625+27C>T 0.95607 1 0.950388 0.9767 1 Uncertain 4_177093505_T->G 4 177093505 177093505 T G snp 1541.77 1/1 99 62 1 61 0.98 intronic rs4538426 WDR17 AU NM_170710 exon26 c.75855-20T>G 0.46246 0.3869 0.488771 0.5138 0.4030 Uncertain 4_177095908_A->G 4 177095908 177095908 A G snp 1516.77 1/1 99 54 0 54 1.0 intronic rs4690665 WDR17 AU NM_170710 exon28 c.78199+39A>G 0.26857 0.2579 0.260188 0.2640 0.2813 Uncertain 4_177098285_G->A 4 177098285 177098285 G A snp 3442.77 1/1 99 135 1 134 0.99 exonic rs17625943 WDR17 AU nonsynonymous SNV NM_181265 exon27 c.G3526A p.A1176T 0.260583 0.2569 0.250077 0.2600 0.2792 0.03 T 1.000 P -1.063 T 0.764 T 0.301 P Pathogenic 4_177100516_T->- 4 177100516 177100516 T - indel 966.73 1/1 93 31 0 31 1.0 intronic rs75391699 WDR17 AU NM_170710 exon31 c.82940-94delT 0.263978 0.2758 Uncertain 4_177113764_A->C 4 177113764 177113764 A C snp 2028.77 1/1 99 72 0 72 1.0 intronic rs6857056 SPATA4 AU NM_144644 exon3 c.7847-13A>C 0.686302 0.8591 0.659489 0.6668 0.8732 Uncertain 4_177113836_C->T 4 177113836 177113836 C T snp 3187.75 1/1 99 118 0 118 1.0 exonic rs6832177 SPATA4 AU synonymous SNV NM_144644 exon4 c.G630A p.A210A 0.282748 0.255 0.320006 0.3292 0.2673 Uncertain 4_177116463_C->G 4 177116463 177116463 C G snp 5174.77 1/1 99 174 2 172 0.99 intronic rs994252 SPATA4 AU NM_144644 exon6 c.10565-32C>G 0.56849 0.7857 0.533846 0.5617 0.8052 Uncertain 4_177116779_T->C 4 177116779 177116779 T C snp 809.77 1/1 63 24 0 24 1.0 UTR5 rs4565028 SPATA4 AU 0.54373 0.4454 Uncertain 4_177137988_C->T 4 177137988 177137988 C T snp 875.77 0/1 99 65 29 36 0.55 exonic rs6827525 ASB5 AU synonymous SNV NM_080874 exon6 c.G843A p.R281R 0.515575 0.5675 0.483239 0.5023 0.5833 Uncertain 4_177142776_C->A 4 177142776 177142776 C A snp 1477.77 0/1 99 131 65 66 0.5 intronic rs10032098 ASB5 AU NM_080874 exon4 c.6001+25C>A 0.839457 0.8274 0.857450 0.8729 0.8316 Uncertain 4_177143664_C->G 4 177143664 177143664 C G snp 1260.77 1/1 90 42 0 42 1.0 intronic rs6553937 ASB5 AU NM_080874 exon5 c.6821+93C>G 0.993211 1 Uncertain 4_177605082_TCA->- 4 177605082 177605084 TCA - indel 10245.7 1/1 99 180 0 180 1.0 exonic rs3062984 VEGFC AD nonframeshift deletion NM_005429 exon7 c.1256_1258del p.419_420del 0.997005 1 0.995642 0.9990 1 Uncertain 4_177608707_C->T 4 177608707 177608707 C T snp 190.77 0/1 99 26 18 8 0.31 intronic rs7664413 VEGFC AD NM_005429 exon2 c.3598+33C>T 0.259185 0.256 0.222606 0.2713 0.3403 Uncertain 4_177608775_T->C 4 177608775 177608775 T C snp 164.78 0/1 24 8 2 6 0.75 intronic rs4604006 VEGFC AD NM_005429 exon2 c.3598+101T>C 0.594249 0.7431 Uncertain 4_177608875_A->C 4 177608875 177608875 A C snp 748.77 1/1 57 22 0 22 1.0 intronic rs4529000 VEGFC AD NM_005429 exon3 c.3898-99A>C 0.997005 1 Uncertain 4_177609203_G->A 4 177609203 177609203 G A snp 302.77 0/1 99 24 11 13 0.54 intronic rs13136065 VEGFC AD NM_005429 exon3 c.4005+122G>A 0.592452 0.7361 Uncertain 4_177609259_C->T 4 177609259 177609259 C T snp 74.77 0/1 99 6 3 3 0.5 intronic rs2877962 VEGFC AD NM_005429 exon3 c.4005+178C>T 0.592652 0.7361 Uncertain 4_177609264_C->T 4 177609264 177609264 C T snp 38.77 0/1 67 5 3 2 0.4 intronic rs2333495 VEGFC AD NM_005429 exon3 c.4005+183C>T 0.592452 0.7351 Uncertain 4_177650614_-->A 4 177650614 177650614 - A indel 430.73 1/1 36 12 0 12 1.0 intronic rs3836595 VEGFC AD NM_005429 exon6 c.45610-72insA 0.700479 0.9325 Uncertain 4_178167282_G->A 4 178167282 178167282 G A snp 4458.77 1/1 99 160 0 160 1.0 intergenic rs1347894 VEGFC AD 0.916733 1 0.9943 1 Uncertain 4_178169500_G->A 4 178169500 178169500 G A snp 3479.77 1/1 99 126 0 126 1.0 intergenic rs3828517 VEGFC AD 0.565096 0.8085 Uncertain 4_178231152_C->A 4 178231152 178231152 C A snp 693.77 0/1 99 83 48 35 0.42 exonic rs10013040 NEIL3 AU synonymous SNV NM_018248 exon1 c.C45A p.R15R 0.169329 0.1369 0.198170 0.2050 0.1331 Uncertain 4_178243444_AA->- 4 178243444 178243445 AA - indel 197.73 0/1 33 6 1 5 0.83 intronic rs3838631 NEIL3 AU NM_018248 exon2 c.12505-168_12505-167delAA 0.0071885 0.0357 Uncertain 4_178257516_G->A 4 178257516 178257516 G A snp 908.77 0/1 99 71 36 35 0.49 intronic rs2271102 NEIL3 AU NM_018248 exon4 c.26368+41G>A 0.572085 0.4742 0.613556 0.5361 0.4460 Uncertain 4_178260872_C->T 4 178260872 178260872 C T snp 518.77 0/1 99 35 16 19 0.54 intronic rs12645561 NEIL3 AU NM_018248 exon5 c.29829-64C>T 0.148163 0.3333 Uncertain 4_178274565_A->G 4 178274565 178274565 A G snp 826.77 0/1 99 96 59 37 0.39 exonic rs2048074 NEIL3 AU synonymous SNV NM_018248 exon8 c.A1143G p.R381R 0.609026 0.376 0.741196 0.6907 0.4010 Uncertain 4_178274694_T->G 4 178274694 178274694 T G snp 1461.77 0/1 99 134 63 71 0.53 exonic rs10007075 NEIL3 AU synonymous SNV NM_018248 exon8 c.T1272G p.V424V 0.542532 0.376 0.668538 0.6661 0.4006 Uncertain 4_178274750_C->T 4 178274750 178274750 C T snp 1480.77 0/1 99 120 54 66 0.55 exonic rs13112358 NEIL3 AU nonsynonymous SNV NM_018248 exon8 c.C1328T p.P443L 0.608826 0.376 0.740735 0.6899 0.3993 0.75 T 0.0 P -1.000 T 0.0 T 0.001 T Pathogenic 4_178274835_A->C 4 178274835 178274835 A C snp 664.77 0/1 99 56 29 27 0.48 exonic rs13112390 NEIL3 AU nonsynonymous SNV NM_018248 exon8 c.A1413C p.Q471H 0.66254 0.4474 0.771106 0.7337 0.4553 0.82 T 0.0 P -1.063 T 0.0 T 0.0 T Pathogenic 4_178281754_G->A 4 178281754 178281754 G A snp 5120.77 1/1 99 192 0 192 1.0 exonic rs1876268 NEIL3 AU nonsynonymous SNV NM_018248 exon9 c.G1558A p.G520R 0.931909 0.9663 0.949177 0.9539 0.9780 1 T 0.000 P -0.977 T 0.0 T 0.0 T Pathogenic 4_178352679_T->G 4 178352679 178352679 T G snp 261.77 0/1 96 12 4 8 0.67 UTR3 rs1061814 AGA AR 0.456869 0.506 0.6106 0.5537 Uncertain 4_178353046_G->C 4 178353046 178353046 G C snp 438.77 1/1 33 13 0 13 1.0 intronic rs3805167 AGA AR NM_001171988 exon1 c.101+84G>C 0.604034 0.7718 Uncertain 4_178355668_C->G 4 178355668 178355668 C G snp 4663.77 1/1 99 164 0 164 1.0 intronic rs4690521 AGA AR NM_000027 exon3 c.2782+25C>G 0.989018 1 0.986775 0.9967 1 Uncertain 4_178357566_-->TAATTG 4 178357566 178357566 - TAATTG indel 1033.73 0/1 99 24 7 17 0.71 intronic rs71599314 AGA AR NM_001171988 exon4 c.4644+61insTAATTG 0.153554 0.1389 0.188803 Uncertain 4_178359679_T->C 4 178359679 178359679 T C snp 46.77 0/1 33 3 1 2 0.67 intronic rs2271100 AGA AR NM_001171988 exon6 c.7037-219T>C 0.14996 0.1389 Uncertain 4_178359960_G->C 4 178359960 178359960 G C snp 2310.77 1/1 99 92 0 92 1.0 exonic rs2228119 AGA AR nonsynonymous SNV NM_000027 exon4 c.C446G p.T149S 0.920927 1 0.925265 0.9782 0.9999 0.72 T 0.0 P -0.973 T 0.0 T 0.0 T CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000077944.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 4_178361414_A->C 4 178361414 178361414 A C snp 1423.77 0/1 99 118 56 62 0.53 intronic rs34241758 AGA AR NM_001171988 exon8 c.8565-12A>C 0.149561 0.1389 0.196755 0.1910 0.1526 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000077943.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 4_178363378_G->A 4 178363378 178363378 G A snp 1004.77 0/1 99 73 35 38 0.52 intronic rs11131799 AGA AR NM_001171988 exon9 c.10541-24G>A 0.610423 0.6032 0.606571 0.6553 0.6317 Uncertain 4_178882120_A->T 4 178882120 178882120 A T snp 1029.77 1/1 75 32 0 32 1.0 ncRNA_intronic rs9994032 LINC01098 AU 0.942093 1 0.942350 Uncertain 4_178887811_-->TTTT 4 178887811 178887811 - TTTT indel 1234.73 1/1 92 33 0 33 1.0 ncRNA_intronic rs771130052 LINC01098 AU 0.371549 0.2808 0.2333 Uncertain 4_178887815_C->T 4 178887815 178887815 C T snp 798.77 1/1 57 31 0 31 1.0 ncRNA_intronic rs28409849 LINC01098 AU 0.459265 0.3899 0.4560 0.3490 Uncertain 4_178911822_T->C 4 178911822 178911822 T C snp 405.77 0/1 99 29 13 16 0.55 ncRNA_exonic rs17065494 LINC01098 AU 0.125599 0.2024 Uncertain 4_183090306_A->G 4 183090306 183090306 A G snp 483.77 0/1 99 55 33 22 0.4 upstream rs28555566 MIR1305 AU 0.240415 0.2222 Uncertain 4_183090436_A->G 4 183090436 183090436 A G snp 940.77 0/1 99 112 66 46 0.41 upstream rs28701836 MIR1305 AU 0.240415 0.2222 0.197757 0.2697 0.3015 Uncertain 4_183267729_A->- 4 183267729 183267729 A - indel 249.75 1/1 23 13 1 12 0.92 intronic rs33933747 TENM3 AR NM_001080477 exon2 c.22630-74delA 0.910144 0.9851 Uncertain 4_183268148_-->GG 4 183268148 183268148 - GG indel 316.74 1/1 27 19 0 19 1.0 intronic rs11373586 TENM3 AR NM_001080477 exon2 c.22909+66insGG Uncertain 4_183268174_C->T 4 183268174 183268174 C T snp 176.9 1/1 15 5 0 5 1.0 intronic rs6552554 TENM3 AR NM_001080477 exon2 c.22909+92C>T 0.983826 1 Uncertain 4_183271186_-->A 4 183271186 183271186 - A indel 122.8 1/1 18 7 0 7 1.0 intronic rs10644033 TENM3 AR NM_001080477 exon2 c.22909+3104insA Uncertain 4_183370056_C->T 4 183370056 183370056 C T snp 1834.77 1/1 99 67 0 67 1.0 intronic rs11721730 TENM3 AR NM_001080477 exon2 c.22909+101974C>T 0.836462 0.8423 Uncertain 4_183370245_GCG->- 4 183370245 183370247 GCG - indel 3453.73 1/1 99 92 0 92 1.0 intronic rs35591339 TENM3 AR NM_001080477 exon2 c.22909+102163_22909+102165delGCG 0.922524 0.9901 0.9581 0.9444 Uncertain 4_183522410_TTG->- 4 183522410 183522412 TTG - indel 673.73 0/1 99 53 23 30 0.57 intronic rs149533994 TENM3 AR NM_001080477 exon3 c.277141+96_277141+98delTTG 0.185104 0.4415 Uncertain 4_183594117_A->T 4 183594117 183594117 A T snp 464.77 0/1 99 25 8 17 0.68 intronic rs3749508 TENM3 AR NM_001080477 exon6 c.348984-40A>T 0.390176 0.5337 0.190543 0.3213 0.5497 Uncertain 4_183601594_G->A 4 183601594 183601594 G A snp 1378.77 1/1 99 41 0 41 1.0 intronic rs11934254 TENM3 AR NM_001080477 exon8 c.356329+92G>A 0.382588 0.6845 Uncertain 4_183601847_T->C 4 183601847 183601847 T C snp 5660.77 1/1 99 223 0 223 1.0 exonic rs2871328 TENM3 AR synonymous SNV NM_001080477 exon9 c.T1791C p.S597S 0.520168 0.7837 0.374854 0.4493 0.7908 Uncertain 4_183650027_A->- 4 183650027 183650027 A - indel 331.73 1/1 46 17 0 17 1.0 intronic rs5864796 TENM3 AR NM_001080477 exon13 c.404944-90delA Uncertain 4_183652175_T->C 4 183652175 183652175 T C snp 5850.77 1/1 99 211 0 211 1.0 exonic rs10866256 TENM3 AR synonymous SNV NM_001080477 exon15 c.T2850C p.D950D 1 1 1 1 Uncertain 4_183659722_G->C 4 183659722 183659722 G C snp 2008.77 1/1 99 77 0 77 1.0 intronic rs2309769 TENM3 AR NM_001080477 exon17 c.414524+25G>C 0.420327 0.7262 0.330176 0.4262 0.7082 Uncertain 4_183664593_G->A 4 183664593 183664593 G A snp 3100.77 1/1 99 108 0 108 1.0 intronic rs7676674 TENM3 AR NM_001080477 exon18 c.419399+21G>A 0.395966 0.6766 0.327459 0.4100 0.6577 Uncertain 4_183665437_C->G 4 183665437 183665437 C G snp 1001.77 1/1 72 39 0 39 1.0 intronic rs6835335 TENM3 AR NM_001080477 exon18 c.419399+865C>G 0.704473 0.9077 Uncertain 4_183674577_G->C 4 183674577 183674577 G C snp 809.77 0/1 99 74 44 30 0.41 intronic rs13130747 TENM3 AR NM_001080477 exon20 c.429429-25G>C 0.586861 0.7153 0.546624 0.5392 0.6869 Uncertain 4_183674597_A->C 4 183674597 183674597 A C snp 2197.77 0/1 99 142 62 80 0.56 splicing rs71620945 TENM3 AR NM_001080477 exon20 c.429429-5A>C 0.101038 0.0357 0.171460 0.1725 0.0349 Pathogenic 4_183715019_C->T 4 183715019 183715019 C T snp 1539.77 0/1 99 139 76 63 0.45 exonic rs61753392 TENM3 AR synonymous SNV NM_001080477 exon25 c.C7194T p.D2398D 0.0383387 0.0268 0.032334 0.0132 0.0288 Uncertain 4_183812351_C->T 4 183812351 183812351 C T snp 56.74 1/1 6 2 0 2 1.0 UTR3 rs9542 DCTD AU 0.448682 0.6062 Uncertain 4_183838025_A->G 4 183838025 183838025 A G snp 1312.77 0/1 99 119 63 56 0.47 intronic rs13114262 DCTD AU NM_001012732 exon6 c.25889-415A>G 0.329673 0.3611 0.4804 0.5 Uncertain 4_184170025_G->A 4 184170025 184170025 G A snp 1520.77 1/1 99 54 0 54 1.0 intronic rs907357 WWC2 AU NM_024949 exon7 c.149369+12G>A 0.999601 1 0.999616 0.9998 1 Uncertain 4_184171187_T->C 4 184171187 184171187 T C snp 1351.77 0/1 99 152 90 62 0.41 intronic rs10020261 WWC2 AU NM_024949 exon8 c.150502+41T>C 0.448482 0.249 0.504153 0.5022 0.2202 Uncertain 4_184180920_G->A 4 184180920 184180920 G A snp 796.77 0/1 99 73 37 36 0.49 intronic rs11132172 WWC2 AU NM_024949 exon10 c.160237+39G>A 0.266174 0.2768 0.219046 0.3474 0.2292 Uncertain 4_184181012_G->A 4 184181012 184181012 G A snp 128.77 0/1 99 21 16 5 0.24 intronic rs17074537 WWC2 AU NM_024949 exon10 c.160237+131G>A 0.377995 0.2966 Uncertain 4_184182001_A->G 4 184182001 184182001 A G snp 93.28 1/1 9 3 0 3 1.0 intronic rs10780066 WWC2 AU NM_024949 exon11 c.161418-61A>G 0.962061 1 Uncertain 4_184190355_-->C 4 184190355 184190355 - C indel 6816.73 1/1 99 153 0 153 1.0 intronic rs11407064 WWC2 AU NM_024949 exon15 c.169672+39insC 0.708866 0.5714 0.771362 0.7802 0.5839 Uncertain 4_184190535_G->A 4 184190535 184190535 G A snp 4574.77 1/1 99 166 0 166 1.0 intronic rs6858486 WWC2 AU NM_024949 exon15 c.169672+219G>A 0.647165 0.5446 0.7147 0.5522 Uncertain 4_184192183_T->C 4 184192183 184192183 T C snp 311.77 0/1 99 24 10 14 0.58 intronic rs28647357 WWC2 AU NM_024949 exon16 c.171588-49T>C 0.252396 0.246 0.243376 0.2655 0.2390 Uncertain 4_184201909_G->A 4 184201909 184201909 G A snp 948.77 0/1 99 62 31 31 0.5 intronic rs11132173 WWC2 AU NM_024949 exon17 c.181284-19G>A 0.324481 0.253 0.372443 0.4313 0.3238 Uncertain 4_184202148_G->T 4 184202148 184202148 G T snp 5554.77 1/1 99 199 1 198 0.99 intronic rs11132174 WWC2 AU NM_024949 exon17 c.181406+98G>T 0.962061 1 0.9753 1 Uncertain 4_184203706_A->T 4 184203706 184203706 A T snp 907.77 1/1 66 30 0 30 1.0 intronic rs2871353 WWC2 AU NM_024949 exon18 c.183216-154A>T 0.646166 0.4792 Uncertain 4_184203886_G->C 4 184203886 184203886 G C snp 1978.77 0/1 99 136 60 76 0.56 exonic rs3814422 WWC2 AU nonsynonymous SNV NM_024949 exon18 c.G2710C p.D904H 0.253794 0.2391 0.264158 0.3626 0.3706 0.11 T 0.0 P -0.947 T 0.958 D 0.661 D Pathogenic 4_184204099_C->T 4 184204099 184204099 C T snp 820.77 0/1 99 75 41 34 0.45 intronic rs3814421 WWC2 AU NM_024949 exon18 c.183415+40C>T 0.323083 0.249 0.364809 0.3830 0.2751 Uncertain 4_184242959_C->G 4 184242959 184242959 C G snp 1152.77 0/1 99 99 49 50 0.51 exonic rs6839940 CLDN24 AU nonsynonymous SNV NM_001185149 exon1 c.G621C p.Q207H 0.20607 0.2103 0.2852 0.2810 0.38 T 0.0 P -1.074 T Pathogenic 4_184243528_G->A 4 184243528 184243528 G A snp 1800.77 1/1 99 68 0 68 1.0 exonic rs7688467 CLDN24 AU nonsynonymous SNV NM_001185149 exon1 c.C52T p.L18F 0.699281 0.5665 0.7673 0.5746 0.39 T 0.0 P -0.968 T Pathogenic 4_184366629_-->GCACA 4 184366629 184366629 - GCACA indel 540.73 0/1 99 14 6 8 0.57 intronic rs11282266 CDKN2AIP AU NM_017632 exon2 c.737-58insGCACA 0.574081 0.744 Uncertain 4_184367559_CTG->- 4 184367559 184367561 CTG - indel 4820.73 0/1 99 177 84 93 0.53 exonic rs10533201 CDKN2AIP AU nonframeshift deletion NM_017632 exon3 c.722_724del p.241_242del 0.363019 0.244 0.557419 0.5767 0.2543 Uncertain 4_184426387_C->T 4 184426387 184426387 C T snp 2703.77 1/1 99 107 0 107 1.0 exonic rs8872 ING2 AU synonymous SNV NM_001564 exon1 c.C39T p.A13A 0.713259 0.6349 0.761381 0.7597 0.6532 Uncertain 4_184426526_A->G 4 184426526 184426526 A G snp 1686.77 1/1 99 56 0 56 1.0 splicing rs6552675 ING2 AU NM_001564 exon1 c.172+6A>G 0.868211 0.8026 0.954939 0.8839 0.7782 Pathogenic 4_184570715_T->G 4 184570715 184570715 T G snp 331.77 0/1 99 52 33 19 0.37 exonic rs10015804 RWDD4 AU unknown 0.221645 0.1329 0.227503 0.2346 0.1314 0.56 T 0.001 P -0.986 T 0.0 T 0.0 T Uncertain 4_184572342_A->- 4 184572342 184572342 A - indel 559.73 0/1 99 51 30 21 0.41 intronic rs56817841 RWDD4 AU NM_152682 exon5 c.9782-28delA 0.25 0.13 0.2651 0.1301 Uncertain 4_184577348_G->A 4 184577348 184577348 G A snp 48.74 1/1 6 2 0 2 1.0 intronic rs5019706 RWDD4 AU NM_152682 exon6 c.14526+234G>A 0.834665 0.999 Uncertain 4_184587600_G->A 4 184587600 184587600 G A snp 1470.77 0/1 99 172 105 67 0.39 intronic rs79745748 TRAPPC11 AR NM_021942 exon3 c.2559+21G>A 0.0185703 0.0744 0.007766 0.0178 0.1021 Uncertain 4_184587658_-->TACC 4 184587658 184587658 - TACC indel 4259.73 0/1 99 122 46 76 0.62 intronic rs397821207 TRAPPC11 AR NM_021942 exon3 c.2559+79insTACC 0.489018 0.5357 Uncertain 4_184587701_G->A 4 184587701 184587701 G A snp 1178.77 0/1 99 70 25 45 0.64 intronic rs9996255 TRAPPC11 AR NM_021942 exon3 c.2559+122G>A 0.488019 0.5327 Uncertain 4_184596446_G->A 4 184596446 184596446 G A snp 605.77 0/1 99 43 15 28 0.65 intronic rs7678174 TRAPPC11 AR NM_021942 exon7 c.11370+56G>A 0.484824 0.5337 0.483260 Uncertain 4_184600571_C->A 4 184600571 184600571 C A snp 1578.77 0/1 99 184 109 75 0.41 exonic rs62357990 TRAPPC11 AR synonymous SNV NM_021942 exon9 c.C897A p.I299I 0.061901 0.1319 0.061895 0.0592 0.1236 Uncertain 4_184600601_A->G 4 184600601 184600601 A G snp 1536.77 0/1 99 159 92 67 0.42 exonic rs4241779 TRAPPC11 AR synonymous SNV NM_021942 exon9 c.A927G p.A309A 0.485623 0.5337 0.496156 0.4451 0.5131 Uncertain 4_184601195_T->G 4 184601195 184601195 T G snp 50.77 0/1 79 18 15 3 0.17 intronic rs10022122 TRAPPC11 AR NM_021942 exon10 c.16252-77T>G 0.485823 0.5337 Uncertain 4_184606653_G->A 4 184606653 184606653 G A snp 357.77 0/1 99 27 14 13 0.48 intronic rs11132206 TRAPPC11 AR NM_021942 exon17 c.21536+97G>A 0.514177 0.5327 Uncertain 4_184607970_T->C 4 184607970 184607970 T C snp 540.77 0/1 99 33 16 17 0.52 intronic rs9312316 TRAPPC11 AR NM_021942 exon18 c.22881+69T>C 0.488818 0.5337 Uncertain 4_184618936_G->C 4 184618936 184618936 G C snp 1271.77 0/1 99 88 39 49 0.56 exonic rs62617790 TRAPPC11 AR nonsynonymous SNV NM_021942 exon25 c.G2799C p.Q933H 0.137979 0.2054 0.096494 0.1371 0.2434 0.13 T 1.000 P -1.116 T 0.999 D 0.998 D Pathogenic 4_184619017_C->G 4 184619017 184619017 C G snp 338.77 0/1 99 50 33 17 0.34 intronic rs12651215 TRAPPC11 AR NM_021942 exon25 c.33968+29C>G 0.520767 0.4911 0.602799 0.5277 0.4693 Uncertain 4_184629794_G->A 4 184629794 184629794 G A snp 620.77 0/1 99 37 11 26 0.7 intronic rs9312318 TRAPPC11 AR NM_021942 exon29 c.44707+67G>A 0.25639 0.3105 Uncertain 4_184931818_G->A 4 184931818 184931818 G A snp 5122.77 1/1 99 182 0 182 1.0 exonic rs4861597 STOX2 AU synonymous SNV NM_020225 exon3 c.G1827A p.T609T 0.428115 0.6022 0.308001 0.3578 0.6228 Uncertain 4_184932609_G->A 4 184932609 184932609 G A snp 3173.77 1/1 99 106 1 105 0.99 intronic rs4862282 STOX2 AU NM_020225 exon3 c.104633+33G>A 1 1 0.999921 1.0000 1 Uncertain 4_185012398_T->C 4 185012398 185012398 T C snp 2909.77 0/1 99 245 125 120 0.49 exonic rs4479748 ENPP6 AU nonsynonymous SNV NM_153343 exon8 c.A1255G p.S419G 0.558307 0.5903 0.501615 0.4933 0.5953 0.42 T 0.0 P -0.984 T 0.0 T 0.0 T Pathogenic 4_185038691_A->G 4 185038691 185038691 A G snp 93.28 1/1 9 3 0 3 1.0 intronic rs13103966 ENPP6 AU NM_153343 exon5 c.26582-220A>G 0.59345 0.6746 Uncertain 4_185075033_-->T 4 185075033 185075033 - T indel 233.73 0/1 99 27 6 21 0.78 intronic rs35344477 ENPP6 AU NM_153343 exon7 c.62557+147insT 0.402556 0.3988 Uncertain 4_185310218_C->T 4 185310218 185310218 C T snp 1246.77 0/1 99 107 56 51 0.48 exonic rs1131553 IRF2 AU synonymous SNV NM_002199 exon9 c.G744A p.G248G 0.423123 0.4216 0.376826 0.4220 0.4033 1.000 P -0.906 T Likely benign 4_185312027_C->T 4 185312027 185312027 C T snp 840.77 0/1 99 71 39 32 0.45 intronic rs66641943 IRF2 AU NM_002199 exon2 c.1992+124C>T 0.267173 0.3234 Uncertain 4_185550764_T->C 4 185550764 185550764 T C snp 607.77 1/1 45 18 0 18 1.0 intronic rs4647693 CASP3 AU NM_004346 exon1 c.230+109T>C 0.417732 0.8056 Uncertain 4_185578229_G->T 4 185578229 185578229 G T snp 1067.77 1/1 78 28 0 28 1.0 intronic rs13108061 PRIMPOL AD 0.407149 0.2738 Uncertain 4_185583092_-->TATT 4 185583092 185583092 - TATT indel 8444.73 1/1 99 114 0 114 1.0 intronic rs60624489 PRIMPOL AD NM_152683 exon5 c.4763+35insTATT 0.938299 0.994 0.942980 0.9765 0.9957 Uncertain 4_185587165_A->G 4 185587165 185587165 A G snp 2251.77 1/1 99 97 0 97 1.0 exonic rs2463447 PRIMPOL AD nonsynonymous SNV NM_152683 exon6 c.A503G p.Q168R 0.966853 1 0.959250 0.9873 0.9998 1 T 0.0 P -0.945 T 0.0 T 0.0 T Pathogenic 4_185622046_C->T 4 185622046 185622046 C T snp 2530.77 1/1 99 88 0 88 1.0 intronic rs11728389 CENPU AU NM_024629 exon3 c.5594+11C>T 0.439696 0.2718 0.550976 0.5767 0.2945 Uncertain 4_185652147_G->A 4 185652147 185652147 G A snp 1013.77 1/1 36 39 1 38 0.97 intronic rs3806796 CENPU AU NM_024629 exon12 c.35681+25G>A 0.44369 0.2728 0.555615 0.5791 0.2994 Uncertain 4_185652201_G->A 4 185652201 185652201 G A snp 543.77 1/1 42 17 0 17 1.0 intronic rs7675046 CENPU AU NM_024629 exon12 c.35681+79G>A 0.822284 0.999 Uncertain 4_185652225_C->- 4 185652225 185652225 C - indel 191.77 1/1 21 9 0 9 1.0 intronic rs11362720 CENPU AU NM_024629 exon12 c.35681+103delC 0.570088 0.6171 Uncertain 4_185678118_C->G 4 185678118 185678118 C G snp 182.9 1/1 15 5 0 5 1.0 UTR3 rs4862413 ACSL1 AU 0.998802 1 Uncertain 4_185681475_G->C 4 185681475 185681475 G C snp 3712.77 1/1 99 116 0 116 1.0 intronic rs6825554 ACSL1 AU NM_001995 exon4 c.3232-35G>C 0.997404 1 0.998308 0.9993 1 Uncertain 4_185683840_A->G 4 185683840 185683840 A G snp 609.77 1/1 45 21 0 21 1.0 intronic rs939040 ACSL1 AU NM_001995 exon5 c.5399+163A>G 0.998802 1 Uncertain 4_185686032_C->T 4 185686032 185686032 C T snp 1430.77 0/1 99 135 74 61 0.45 exonic rs2292898 ACSL1 AU synonymous SNV NM_001995 exon15 c.G1407A p.L469L 0.83147 0.9306 0.745579 0.7348 0.9211 Uncertain 4_185686856_C->G 4 185686856 185686856 C G snp 327.77 0/1 99 20 7 13 0.65 intronic rs3792314 ACSL1 AU NM_001995 exon8 c.8766-188C>G 0.831869 0.9296 Uncertain 4_185687233_C->T 4 185687233 185687233 C T snp 327.77 0/1 99 22 10 12 0.55 intronic rs3749233 ACSL1 AU NM_001995 exon8 c.8862+93C>T 0.218051 0.2034 Uncertain 4_185687687_A->C 4 185687687 185687687 A C snp 149.77 0/1 99 14 8 6 0.43 intronic rs12374289 ACSL1 AU NM_001995 exon9 c.9497-88A>C 0.229233 0.2153 Uncertain 4_185687863_A->G 4 185687863 185687863 A G snp 480.77 0/1 99 67 44 23 0.34 exonic rs11727009 ACSL1 AU synonymous SNV NM_001995 exon13 c.T1176C p.F392F 0.214856 0.2153 0.230893 0.2212 0.2357 Uncertain 4_185694697_G->A 4 185694697 185694697 G A snp 538.77 0/1 99 33 14 19 0.58 intronic rs7691972 ACSL1 AU NM_001995 exon13 c.16538-119G>A 0.15595 0.0704 Uncertain 4_185701549_G->T 4 185701549 185701549 G T snp 1236.77 0/1 99 112 57 55 0.49 exonic rs1803898 ACSL1 AU synonymous SNV NM_001995 exon5 c.C414A p.I138I 0.160743 0.0645 0.247040 0.2590 0.0644 Uncertain 4_185701620_T->C 4 185701620 185701620 T C snp 702.77 0/1 99 72 39 33 0.46 intronic rs7680850 ACSL1 AU NM_001995 exon17 c.23309+33T>C 0.164337 0.0645 0.249116 0.2610 0.0657 Uncertain 4_185705006_G->A 4 185705006 185705006 G A snp 676.77 0/1 99 79 50 29 0.37 intronic rs2102862 ACSL1 AU NM_001995 exon18 c.26802-74G>A 0.247005 0.2173 Uncertain 4_185772384_A->G 4 185772384 185772384 A G snp 1562.77 1/1 99 51 0 51 1.0 upstream rs1032299 MIR3945 AU 0.987819 1 Uncertain 4_185859505_T->G 4 185859505 185859505 T G snp 4331.77 1/1 99 160 1 159 0.99 downstream rs6821859 MIR4455 AU 0.877796 0.9653 0.8125 . Uncertain 4_185940461_C->T 4 185940461 185940461 C T snp 1288.77 1/1 99 44 0 44 1.0 intronic rs4862491 HELT AU NM_001300781 exon2 c.458-79C>T 0.670927 0.7788 Uncertain 4_185940952_C->G 4 185940952 185940952 C G snp 923.77 0/1 99 110 66 44 0.4 exonic rs1078461 HELT AU nonsynonymous SNV NM_001300781 exon3 c.C184G p.L62V 0.111621 0.1885 0.095648 0.1103 0.1902 0.05 T 1.000 P -1.086 T 0.981 D 0.866 D Pathogenic 4_185999348_T->C 4 185999348 185999348 T C snp 884.77 0/1 99 46 15 31 0.67 intergenic rs10023344 HELT AU 0.623003 0.3651 Uncertain 4_185999543_G->A 4 185999543 185999543 G A snp 2239.77 0/1 99 176 76 100 0.57 intergenic rs6841061 HELT AU 0.574681 0.3651 0.647367 0.5903 0.3312 Uncertain 4_185999587_T->A 4 185999587 185999587 T A snp 1121.77 0/1 99 103 56 47 0.46 intergenic rs6818170 HELT AU 0.667532 0.4603 0.6436 0.4129 Uncertain 4_186065844_-->T 4 186065844 186065844 - T indel 137.8 1/1 18 6 0 6 1.0 intronic rs34795113 SLC25A4 AR,AD NM_001151 exon2 c.1391-73insT 0.467851 0.7242 Uncertain 4_186097219_C->A 4 186097219 186097219 C A snp 69.77 0/1 98 59 49 10 0.17 intronic rs200291624 CFAP97 AU NM_020827 exon3 c.13254+14C>A 0.0005 0.0013 Uncertain 4_186111639_T->C 4 186111639 186111639 T C snp 4838.77 1/1 99 172 0 172 1.0 exonic rs1133657 CFAP97 AU nonsynonymous SNV NM_001292033 exon2 c.A712G p.T238A 0.430511 0.5823 0.442831 0.4797 0.5903 0.16 T 0.0 P -0.953 T 0.061 T 0.023 T Pathogenic 4_186112111_G->A 4 186112111 186112111 G A snp 5192.77 1/1 99 180 0 180 1.0 exonic rs3108237 CFAP97 AU synonymous SNV NM_001292033 exon2 c.C240T p.P80P 0.540935 0.6012 0.543453 0.5317 0.6040 Uncertain 4_186112369_-->A 4 186112369 186112369 - A indel 603.73 1/1 66 27 0 27 1.0 splicing rs34825796 CFAP97 AU NM_020827 exon4 c.28415+3insA 0.532947 0.6002 0.5192 0.5951 Pathogenic 4_186170358_G->A 4 186170358 186170358 G A snp 1162.77 1/1 84 39 0 39 1.0 intronic rs3108229 SNX25 AU NM_031953 exon2 c.22+1826G>A 0.449481 0.5615 Uncertain 4_186185551_T->C 4 186185551 186185551 T C snp 99.28 1/1 9 3 0 3 1.0 intronic rs2280664 SNX25 AU NM_031953 exon4 c.17081-40T>C 0.433906 0.5754 0.382593 0.4268 0.5820 Uncertain 4_186188460_C->T 4 186188460 186188460 C T snp 44.74 1/1 6 2 0 2 1.0 intronic rs3112865 SNX25 AU NM_031953 exon5 c.19799+151C>T 0.461462 0.5724 Uncertain 4_186320667_A->- 4 186320667 186320667 A - indel 964.73 1/1 93 31 0 31 1.0 intronic rs11287696 ANKRD37 AU NM_181726 exon4 c.2646-56delA 0.747005 0.9871 Uncertain 4_186321067_C->T 4 186321067 186321067 C T snp 1323.77 1/1 96 38 0 38 1.0 UTR3 rs1053218 UFSP2 AD 0.636382 0.8413 Uncertain 4_186321447_C->G 4 186321447 186321447 C G snp 462.77 1/1 36 13 0 13 1.0 UTR3 rs3733646 UFSP2 AD 0.567692 0.7966 Uncertain 4_186323209_A->G 4 186323209 186323209 A G snp 544.77 1/1 42 14 0 14 1.0 intronic rs3733645 UFSP2 AD NM_018359 exon2 c.3102-1438A>G 0.56869 0.7976 Uncertain 4_186323593_C->T 4 186323593 186323593 C T snp 269.8 1/1 21 11 0 11 1.0 intronic rs6552880 UFSP2 AD NM_018359 exon2 c.3102-1054C>T 0.912939 0.9901 Uncertain 4_186324841_T->A 4 186324841 186324841 T A snp 3240.77 1/1 99 91 0 91 1.0 intronic rs13126680 UFSP2 AD NM_018359 exon2 c.3227+69T>A 0.913339 0.9921 Uncertain 4_186336583_G->A 4 186336583 186336583 G A snp 146.03 1/1 12 6 0 6 1.0 intronic rs10032989 UFSP2 AD NM_018359 exon7 c.14956+82G>A 0.913139 0.9921 Uncertain 4_186339449_A->G 4 186339449 186339449 A G snp 56.74 1/1 6 2 0 2 1.0 intronic rs10000869 UFSP2 AD NM_018359 exon9 c.18049-145A>G 0.635583 0.8413 Uncertain 4_186339584_A->G 4 186339584 186339584 A G snp 1256.77 1/1 90 42 0 42 1.0 intronic rs10003160 UFSP2 AD NM_018359 exon9 c.18049-10A>G 0.991414 1 0.991462 0.9976 0.9999 Uncertain 4_186347055_G->A 4 186347055 186347055 G A snp 5534.77 1/1 99 205 0 205 1.0 UTR5 rs2289720 UFSP2 AD 0.570487 0.7937 0.587195 0.6924 0.8232 Uncertain 4_186347073_G->C 4 186347073 186347073 G C snp 4696.77 1/1 99 169 0 169 1.0 UTR5 rs11132303 UFSP2 AD 0.604233 0.8343 0.603486 0.6876 0.8547 Uncertain 4_186347092_T->C 4 186347092 186347092 T C snp 3782.77 1/1 99 132 0 132 1.0 UTR5 rs10866275 UFSP2 AD 0.9998 1 Uncertain 4_186357523_C->G 4 186357523 186357523 C G snp 964.77 1/1 69 38 0 38 1.0 intronic rs7697970 C4orf47 AU NM_001114357 exon4 c.6948+10C>G 0.857029 0.9931 0.840561 0.9011 0.9935 Uncertain 4_186361876_A->G 4 186361876 186361876 A G snp 1688.77 1/1 99 54 0 54 1.0 splicing rs4476640 C4orf47 AU NM_001114357 exon5 c.11308+3A>G 0.859625 0.9931 0.9034 0.9931 Pathogenic 4_186366315_T->C 4 186366315 186366315 T C snp 1746.77 1/1 99 50 0 50 1.0 intronic rs2120414 C4orf47 AU NM_001114357 exon6 c.15719+31T>C 0.859425 0.9931 0.844941 0.9010 0.9936 Uncertain 4_186366382_T->C 4 186366382 186366382 T C snp 93.28 1/1 9 3 0 3 1.0 UTR3 rs2120413 CCDC110 AU Uncertain 4_186366809_C->T 4 186366809 186366809 C T snp 99.28 1/1 9 3 0 3 1.0 intronic rs6833872 C4orf47 AU NM_001114357 exon6 c.15719+525C>T 0.859625 0.9931 Uncertain 4_186370676_-->A 4 186370676 186370676 - A indel 622.74 1/1 26 32 3 29 0.91 intronic rs35349112 C4orf47 AU NM_001114357 exon7 c.20184-73insA 0.509784 0.7837 Uncertain 4_186378541_C->G 4 186378541 186378541 C G snp 737.77 0/1 99 49 20 29 0.59 intronic rs11722096 CCDC110 AU NM_001145411 exon2 c.12624-738C>G 0.142173 0.2054 Uncertain 4_186378790_T->C 4 186378790 186378790 T C snp 124.77 0/1 60 7 2 5 0.71 intronic rs4279261 CCDC110 AU NM_001145411 exon2 c.12624-489T>C 0.672125 0.7302 Uncertain 4_186379104_T->C 4 186379104 186379104 T C snp 74.77 0/1 99 9 6 3 0.33 intronic rs7664578 CCDC110 AU NM_001145411 exon2 c.12624-175T>C 0.671326 0.7302 Uncertain 4_186379371_G->A 4 186379371 186379371 G A snp 3366.77 1/1 99 116 0 116 1.0 exonic rs7687202 CCDC110 AU synonymous SNV NM_001145411 exon5 c.C2259T p.Y753Y 0.977436 1 0.974473 0.9928 1 Uncertain 4_186379735_T->C 4 186379735 186379735 T C snp 1204.77 0/1 99 92 41 51 0.55 exonic rs6827370 CCDC110 AU nonsynonymous SNV NM_001145411 exon5 c.A1895G p.Q632R 0.213259 0.2698 0.169540 0.1563 0.2637 0.56 T 0.0 P -0.946 T 0.026 T 0.018 T Pathogenic 4_186379899_G->C 4 186379899 186379899 G C snp 398.77 0/1 99 63 39 24 0.38 exonic rs35596415 CCDC110 AU nonsynonymous SNV NM_001145411 exon5 c.C1731G p.I577M 0.384385 0.2837 0.485450 0.4757 0.2717 0.19 T 0.0 P -0.940 T 0.0 T 0.0 T Pathogenic 4_186380243_A->C 4 186380243 186380243 A C snp 481.77 0/1 99 47 24 23 0.49 exonic rs59319722 CCDC110 AU nonsynonymous SNV NM_001145411 exon5 c.T1387G p.Y463D 0.384784 0.2857 0.483089 0.4806 0.2765 1 T 0.000 P -0.963 T 0.0 T 0.0 T Pathogenic 4_186380295_A->G 4 186380295 186380295 A G snp 822.77 0/1 99 72 38 34 0.47 exonic rs36007437 CCDC110 AU synonymous SNV NM_001145411 exon5 c.T1335C p.N445N 0.294928 0.2808 0.398272 0.4003 0.2682 Uncertain 4_186380515_G->A 4 186380515 186380515 G A snp 1099.77 0/1 99 80 35 45 0.56 exonic rs11132306 CCDC110 AU nonsynonymous SNV NM_001145411 exon5 c.C1115T p.S372F 0.384385 0.2837 0.485079 0.4753 0.2722 0.75 T 0.0 P -0.972 T 0.0 T 0.0 T Pathogenic 4_186380846_A->T 4 186380846 186380846 A T snp 1336.77 0/1 99 118 61 57 0.48 exonic rs7698680 CCDC110 AU nonsynonymous SNV NM_001145411 exon5 c.T784A p.L262M 0.385583 0.2827 0.486846 0.4765 0.2724 1 T 0.0 P -0.944 T 0.0 T 0.0 T Pathogenic 4_186381115_G->T 4 186381115 186381115 G T snp 742.77 0/1 99 64 35 29 0.45 exonic rs7699687 CCDC110 AU nonsynonymous SNV NM_001145411 exon5 c.C515A p.P172Q 0.385583 0.2827 0.484923 0.4760 0.2727 1 T 0.0 P -0.913 T 0.0 T 0.0 T Pathogenic 4_186381165_G->A 4 186381165 186381165 G A snp 1044.77 0/1 99 80 42 38 0.47 exonic rs7699724 CCDC110 AU synonymous SNV NM_001145411 exon5 c.C465T p.D155D 0.385583 0.2827 0.485457 0.4765 0.2731 Uncertain 4_186382206_A->G 4 186382206 186382206 A G snp 466.77 0/1 99 83 59 24 0.29 exonic rs11132309 CCDC110 AU synonymous SNV NM_152775 exon5 c.T345C p.D115D 0.384185 0.2827 0.482462 0.4751 0.2723 Uncertain 4_186391759_G->A 4 186391759 186391759 G A snp 185.77 0/1 99 19 11 8 0.42 intronic rs28715304 CCDC110 AU NM_001145411 exon5 c.25443-339G>A 0.36222 0.2748 Uncertain 4_186391868_T->C 4 186391868 186391868 T C snp 1759.77 1/1 99 64 0 64 1.0 intronic rs28581909 CCDC110 AU NM_001145411 exon5 c.25443-230T>C 0.386382 0.3254 0.3016 0.3368 Uncertain 4_186391898_C->T 4 186391898 186391898 C T snp 1843.77 1/1 99 67 0 67 1.0 intronic rs66481949 CCDC110 AU NM_001145411 exon5 c.25443-200C>T 0.385783 0.3234 0.3346 0.4032 Uncertain 4_186392287_C->A 4 186392287 186392287 C A snp 84.28 1/1 9 3 0 3 1.0 intronic rs57923780 CCDC110 AU NM_001145411 exon5 c.25548+84C>A 0.399361 0.3631 Uncertain 4_186393096_G->A 4 186393096 186393096 G A snp 201.8 0/1 21 7 1 6 0.86 upstream rs12643610 CCDC110 AU 0.175319 0.1964 Uncertain 4_186393234_TT->- 4 186393234 186393235 TT - indel 1210.73 0/1 99 73 33 40 0.55 upstream rs33974317 CCDC110 AU 0.1753 0.2019 Uncertain 4_186393372_T->C 4 186393372 186393372 T C snp 1619.77 0/1 99 133 55 78 0.59 upstream rs11940504 CCDC110 AU 0.235423 0.1994 0.1262 0.1667 0 D -0.928 T Uncertain 4_186423637_G->A 4 186423637 186423637 G A snp 2847.77 1/1 99 105 0 105 1.0 exonic rs4635850 PDLIM3 AU synonymous SNV NM_014476 exon8 c.C906T p.V302V 0.659545 0.8125 0.696678 0.7830 0.8066 CLINSIG=non-pathogenic;CLNDBN=not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000127429.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Uncertain 4_186423677_G->A 4 186423677 186423677 G A snp 1959.77 1/1 99 59 0 59 1.0 intronic rs10866276 PDLIM3 AU NM_001257963 exon1 c.190+40G>A 0.659545 0.8125 0.697370 0.7848 0.8076 Uncertain 4_186427841_T->C 4 186427841 186427841 T C snp 1902.77 1/1 99 62 0 62 1.0 intronic rs2306705 PDLIM3 AU NM_001257963 exon3 c.4359+35T>C 0.764177 0.8085 0.804244 0.8137 0.7961 Uncertain 4_186444698_A->C 4 186444698 186444698 A C snp 530.77 1/1 42 14 0 14 1.0 intronic rs4862543 PDLIM3 AU NM_001257962 exon5 c.21153+98A>C 0.719249 0.8105 Uncertain 4_186444704_C->T 4 186444704 186444704 C T snp 338.78 1/1 27 9 0 9 1.0 intronic rs4861669 PDLIM3 AU NM_001257962 exon5 c.21153+104C>T Uncertain 4_186456617_A->G 4 186456617 186456617 A G snp 3154.77 1/1 99 102 0 102 1.0 UTR5 rs4862545 PDLIM3 AU 0.948283 1 0.949272 0.9857 1 CLINSIG=non-pathogenic;CLNDBN=not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000127431.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Uncertain 4_186508723_G->T 4 186508723 186508723 G T snp 1054.77 1/1 78 35 0 35 1.0 UTR3 rs3186 SORBS2 AU 0.219449 0.373 0.182654 Uncertain 4_186528433_T->C 4 186528433 186528433 T C snp 3332.77 1/1 99 128 0 128 1.0 intronic rs13144963 SORBS2 AU NM_001145675 exon4 c.24153-4500T>C 0.653954 0.6339 0.5481 0.655 Uncertain 4_186545719_G->T 4 186545719 186545719 G T snp 203.77 0/1 99 14 5 9 0.64 intronic rs13119106 SORBS2 AU NM_001145674 exon9 c.36868+71G>T 0.170927 0.1111 Uncertain 4_186545729_A->- 4 186545729 186545729 A - indel 254.73 0/1 89 11 3 8 0.73 intronic rs3841443 SORBS2 AU NM_001145674 exon9 c.36868+81delA 0.328674 0.3165 Uncertain 4_186559109_T->C 4 186559109 186559109 T C snp 40.77 0/1 69 5 3 2 0.4 intronic rs2306707 SORBS2 AU NM_003603 exon12 c.50452-123T>C 0.188498 0.123 Uncertain 4_186572791_C->T 4 186572791 186572791 C T snp 2023.77 1/1 99 66 0 66 1.0 intronic rs4862557 SORBS2 AU NM_001145675 exon13 c.64157-146C>T 0.953275 0.9633 Uncertain 4_186577592_G->C 4 186577592 186577592 G C snp 119.77 0/1 99 8 4 4 0.5 intronic rs35071718 SORBS2 AU NM_001145675 exon15 c.68988-176G>C 0.210863 0.1696 Uncertain 4_186599992_A->T 4 186599992 186599992 A T snp 322.77 0/1 99 34 16 18 0.53 intronic rs67212481 SORBS2 AU NM_001145670 exon17 c.91196+16A>T 0.171725 0.246 0.2133 0.2449 Uncertain 4_186611576_A->G 4 186611576 186611576 A G snp 316.77 0/1 99 23 9 14 0.61 intronic rs55889604 SORBS2 AU NM_001145670 exon19 c.102935-139A>G 0.177716 0.245 Uncertain 4_186611819_A->G 4 186611819 186611819 A G snp 687.77 0/1 99 42 18 24 0.57 intronic rs79427853 SORBS2 AU NM_001145670 exon19 c.102985+54A>G 0.229433 0.2798 0.198642 Uncertain 4_186997643_C->G 4 186997643 186997643 C G snp 627.77 1/1 48 18 0 18 1.0 intronic rs1568358 TLR3 AU 0.986422 1 Uncertain 4_187005376_T->C 4 187005376 187005376 T C snp 448.77 1/1 36 15 0 15 1.0 intronic rs6830345 TLR3 AU NM_003265 exon4 c.7553+50T>C 0.813099 0.869 0.800713 0.7938 0.8867 Uncertain 4_187026558_C->T 4 187026558 187026558 C T snp 57.77 0/1 86 12 9 3 0.25 intergenic rs115055267 TLR3 AU 0.131589 0.1935 0.2189 0.32 0.57 T 0.000 P -0.926 T Uncertain 4_187072932_A->G 4 187072932 187072932 A G snp 584.77 0/1 99 40 19 21 0.53 intronic rs2276914 FAM149A AU 0.88778 0.8194 Uncertain 4_187073000_A->G 4 187073000 187073000 A G snp 980.77 0/1 99 97 55 42 0.43 intronic rs2276913 FAM149A AU 0.835463 0.8194 Uncertain 4_187073030_T->C 4 187073030 187073030 T C snp 1040.77 0/1 99 112 67 45 0.4 intronic rs2276912 FAM149A AU 0.835463 0.8194 0.8521 0.8160 Uncertain 4_187074833_A->G 4 187074833 187074833 A G snp 780.77 0/1 99 77 41 36 0.47 exonic rs4862650 FAM149A AU nonsynonymous SNV NM_001006655 exon4 c.A121G p.K41E 0.879792 0.8204 0.885899 0.8617 0.8125 1 T 0.011 P -0.956 T 0.0 T 0.0 T Pathogenic 4_187077206_A->G 4 187077206 187077206 A G snp 1500.77 0/1 99 175 107 68 0.39 exonic rs4862653 FAM149A AU nonsynonymous SNV NM_001006655 exon6 c.A436G p.K146E 0.886781 0.8204 0.900354 0.8668 0.8098 0.17 T 0.0 P -1.057 T 0.061 T 0.025 T Pathogenic 4_187077393_T->C 4 187077393 187077393 T C snp 337.77 0/1 99 41 27 14 0.34 intronic rs7670550 FAM149A AU NM_015398 exon7 c.4231+49T>C 0.651158 0.624 0.682454 0.6917 0.6129 Uncertain 4_187077437_G->A 4 187077437 187077437 G A snp 143.77 0/1 99 17 11 6 0.35 intronic rs13114283 FAM149A AU NM_015398 exon7 c.4231+93G>A 0.504792 0.5883 Uncertain 4_187078785_A->G 4 187078785 187078785 A G snp 1287.77 0/1 99 120 61 59 0.49 exonic rs2276924 FAM149A AU nonsynonymous SNV NM_001006655 exon7 c.A641G p.H214R 0.889577 0.8244 0.901891 0.8691 0.8134 1 T 0.0 P -0.989 T 0.001 T 0.001 T Pathogenic 4_187078922_G->C 4 187078922 187078922 G C snp 261.77 0/1 99 16 8 8 0.5 intronic rs2276921 FAM149A AU NM_015398 exon8 c.5760+49G>C 0.444489 0.5248 0.434799 0.4738 0.5302 Uncertain 4_187079047_A->G 4 187079047 187079047 A G snp 1788.77 0/1 99 133 63 70 0.53 intronic rs2276919 FAM149A AU NM_015398 exon8 c.5760+174A>G 0.616014 0.5694 0.6631 0.5853 Uncertain 4_187118358_C->T 4 187118358 187118358 C T snp 624.77 0/1 99 40 15 25 0.63 intronic rs62350518 CYP4V2 AR NM_207352 exon4 c.5307+74C>T 0.123602 0.1677 Uncertain 4_187126551_C->- 4 187126551 187126551 C - indel 1647.73 0/1 99 151 84 67 0.44 intronic rs3216724 CYP4V2 AR NM_207352 exon8 c.13479+95delC 0.344249 0.253 Uncertain 4_187129995_A->G 4 187129995 187129995 A G snp 1484.77 0/1 99 104 45 59 0.57 intronic rs2276917 CYP4V2 AR NM_207352 exon9 c.17041-23A>G 0.369409 0.253 0.365985 0.4008 0.2647 Uncertain 4_187171355_A->G 4 187171355 187171355 A G snp 2397.77 0/1 99 211 110 101 0.48 intronic rs4253299 KLKB1 AR NM_000892 exon7 c.22047-41A>G 0.820687 0.9177 0.826003 0.8019 0.9222 Uncertain 4_187178613_A->T 4 187178613 187178613 A T snp 37.77 0/1 66 11 8 3 0.27 intronic rs4253327 KLKB1 AR NM_000892 exon14 c.29170+94A>T 0.555511 0.6052 Uncertain 4_187179210_T->C 4 187179210 187179210 T C snp 1530.77 0/1 99 128 62 66 0.52 exonic rs925453 KLKB1 AR synonymous SNV NM_000892 exon15 c.T1761C p.N587N 0.658147 0.8512 0.678302 0.6682 0.86 0.09 T 0.0 P -0.929 T 0.0 T 0.001 T Likely benign 4_187202977_G->A 4 187202977 187202977 G A snp 1821.77 0/1 99 164 88 76 0.46 intronic rs3775306 F11 AU NM_000128 exon10 c.13444+1243G>A 0.0884585 0.0823 Uncertain 4_187207535_G->T 4 187207535 187207535 G T snp 647.77 0/1 99 64 36 28 0.44 ncRNA_intronic rs2289253 F11-AS1 AU 0.0894569 0.0823 0.072428 0.0610 0.0671 Uncertain 4_187207715_C->A 4 187207715 187207715 C A snp 827.77 0/1 99 94 54 40 0.43 ncRNA_intronic rs2289254 F11-AS1 AU 0.0880591 0.0823 0.071736 0.0609 0.0670 Uncertain 4_187209559_A->G 4 187209559 187209559 A G snp 733.77 0/1 99 73 44 29 0.4 ncRNA_intronic rs5966 F11-AS1 AU 0.0894569 0.0843 0.072428 0.0615 0.0678 Uncertain 4_187209702_G->T 4 187209702 187209702 G T snp 2030.77 0/1 99 136 50 86 0.63 exonic rs5971 F11 AU synonymous SNV NM_000128 exon15 c.G1812T p.R604R 0.0894569 0.0843 0.072428 0.0610 0.0678 1.000 P -1.025 T Likely benign 4_187209729_G->A 4 187209729 187209729 G A snp 1648.77 0/1 99 108 41 67 0.62 exonic rs5976 F11 AU synonymous SNV NM_000128 exon15 c.G1839A p.E613E 0.0583067 0.0843 0.046594 0.0546 0.0682 1 D -1.094 T Likely benign 4_187455865_G->- 4 187455865 187455865 G - indel 201.8 1/1 18 6 0 6 1.0 intronic rs60023119 MTNR1A AU NM_005958 exon1 c.869+154delG 0.940895 1 Uncertain 4_187510280_G->A 4 187510280 187510280 G A snp 3807.77 1/1 99 141 0 141 1.0 exonic rs3775307 FAT1 AU synonymous SNV NM_005245 exon27 c.C13233T p.P4411P 0.0551118 0.1587 0.022538 0.0520 0.1874 0.02 T 1.0 P -1.066 T Likely benign 4_187513585_G->T 4 187513585 187513585 G T snp 48.74 1/1 6 2 0 2 1.0 intronic rs3775309 FAT1 AU NM_005245 exon1 c.629+3211G>T 0.54373 0.5833 Uncertain 4_187516880_A->G 4 187516880 187516880 A G snp 2517.77 1/1 99 81 0 81 1.0 exonic rs1298865 FAT1 AU synonymous SNV NM_005245 exon26 c.T13101C p.S4367S 0.491813 0.5724 0.454086 0.4212 0.6275 0 D 1.0 P -0.939 T Likely benign 4_187517758_G->A 4 187517758 187517758 G A snp 3014.77 1/1 99 108 1 107 0.99 exonic rs3822060 FAT1 AU synonymous SNV NM_005245 exon25 c.C12936T p.P4312P 0.0555112 0.1538 0.022662 0.0547 0.1776 0.83 T 1.000 P -0.802 T Likely benign 4_187518976_C->T 4 187518976 187518976 C T snp 4338.77 1/1 99 146 0 146 1.0 intronic rs2306990 FAT1 AU NM_005245 exon4 c.9201+30C>T 0.31869 0.5367 0.287072 0.3641 0.5908 Uncertain 4_187518980_T->C 4 187518980 187518980 T C snp 4158.77 1/1 99 138 0 138 1.0 intronic rs1280096 FAT1 AU NM_005245 exon4 c.9201+34T>C 0.883986 0.9752 0.822322 0.8056 0.9878 Uncertain 4_187519206_C->G 4 187519206 187519206 C G snp 4845.77 1/1 99 181 0 181 1.0 exonic rs1280097 FAT1 AU nonsynonymous SNV NM_005245 exon23 c.G12177C p.K4059N 0.997404 1 0.995207 0.9953 1 1 T 0.000 P -0.950 T 0.0 T 0.0 T Pathogenic 4_187522528_C->T 4 187522528 187522528 C T snp 5864.77 1/1 99 207 0 207 1.0 exonic rs2289550 FAT1 AU synonymous SNV NM_005245 exon21 c.G11535A p.T3845T 0.0557109 0.1558 0.023154 0.0540 0.1811 Uncertain 4_187524420_C->G 4 187524420 187524420 C G snp 1710.77 0/1 99 164 92 72 0.44 exonic FAT1 AU nonsynonymous SNV NM_005245 exon19 c.G11260C p.V3754L 1 T 0.972 D -0.993 T 0.0 T 0.003 T Pathogenic 4_187525020_A->C 4 187525020 187525020 A C snp 3412.77 1/1 99 125 2 123 0.98 exonic rs2637777 FAT1 AU nonsynonymous SNV NM_005245 exon19 c.T10660G p.S3554A 0.51278 0.5774 0.471603 0.4276 0.6318 0.51 T 0.0 P -1.002 T 0.0 T 0.0 T Pathogenic 4_187527472_A->G 4 187527472 187527472 A G snp 1769.77 1/1 99 62 0 62 1.0 intronic rs2584344 FAT1 AU NM_005245 exon11 c.17622+105A>G 0.652556 0.6627 Uncertain 4_187530313_C->T 4 187530313 187530313 C T snp 4333.77 1/1 99 162 0 162 1.0 intronic rs4862722 FAT1 AU NM_005245 exon12 c.20591-23C>T 0.999601 1 0.996746 0.9961 1 Uncertain 4_187531225_C->A 4 187531225 187531225 C A snp 62.77 0/1 91 13 10 3 0.23 intronic rs145632925 FAT1 AU NM_005245 exon13 c.21424+56C>A 0.00159744 0.0079 Uncertain 4_187531229_G->T 4 187531229 187531229 G T snp 62.77 0/1 91 13 10 3 0.23 intronic rs150619305 FAT1 AU NM_005245 exon13 c.21424+60G>T 0.00159744 0.0079 Uncertain 4_187534363_G->A 4 187534363 187534363 G A snp 4565.77 1/1 99 162 0 162 1.0 exonic rs2249916 FAT1 AU synonymous SNV NM_005245 exon13 c.C9363T p.N3121N 0.611422 0.6657 0.622213 0.5913 0.6866 Uncertain 4_187534375_A->G 4 187534375 187534375 A G snp 5012.77 1/1 99 176 0 176 1.0 exonic rs2249917 FAT1 AU synonymous SNV NM_005245 exon13 c.T9351C p.D3117D 0.417931 0.2808 0.473292 0.4408 0.2862 Uncertain 4_187534542_T->C 4 187534542 187534542 T C snp 5528.77 1/1 99 198 0 198 1.0 intronic rs2249926 FAT1 AU NM_005245 exon15 c.24751+46T>C 0.471246 0.2808 0.606348 0.4558 0.2853 Uncertain 4_187534689_G->T 4 187534689 187534689 G T snp 379.77 1/1 30 10 0 10 1.0 intronic rs2584351 FAT1 AU NM_005245 exon15 c.24751+193G>T 0.611621 0.6657 Uncertain 4_187538031_C->A 4 187538031 187538031 C A snp 1133.77 1/1 84 30 0 30 1.0 intronic rs41278605 FAT1 AU NM_005245 exon17 c.28413-127C>A 0.0680911 0.1786 Uncertain 4_187538133_A->G 4 187538133 187538133 A G snp 6811.77 1/1 99 250 0 250 1.0 intronic rs1280100 FAT1 AU NM_005245 exon17 c.28413-25A>G 0.648363 0.6667 0.656671 0.6094 0.6883 Uncertain 4_187538330_G->A 4 187538330 187538330 G A snp 3018.77 1/1 99 89 0 89 1.0 exonic rs1280099 FAT1 AU synonymous SNV NM_005245 exon11 c.C8904T p.A2968A 0.416134 0.2808 0.475465 0.4398 0.2853 Uncertain 4_187538942_T->G 4 187538942 187538942 T G snp 5151.77 1/1 99 188 1 187 0.99 exonic rs1280098 FAT1 AU nonsynonymous SNV NM_005245 exon10 c.A8798C p.Q2933P 0.592053 0.631 0.623369 0.5554 0.6437 1 T 0.002 P -0.940 T 0.0 T 0.0 T Pathogenic 4_187539217_G->A 4 187539217 187539217 G A snp 7305.77 1/1 99 248 0 248 1.0 exonic rs3733405 FAT1 AU synonymous SNV NM_005245 exon10 c.C8523T p.N2841N 0.0686901 0.1796 0.024164 0.0635 0.1866 Uncertain 4_187540635_T->G 4 187540635 187540635 T G snp 4624.77 1/1 99 153 0 153 1.0 exonic rs77834784 FAT1 AU nonsynonymous SNV NM_005245 exon10 c.A7105C p.T2369P 0.0670927 0.1736 0.022610 0.0635 0.1877 1 T 0.0 P -0.987 T 0.0 T 0.0 T Pathogenic 4_187540654_T->A 4 187540654 187540654 T A snp 4954.77 1/1 99 154 0 154 1.0 exonic rs3796647 FAT1 AU synonymous SNV NM_005245 exon10 c.A7086T p.A2362A 0.0680911 0.1786 0.023230 0.0635 0.1875 Uncertain 4_187540918_G->C 4 187540918 187540918 G C snp 5143.77 1/1 99 182 0 182 1.0 exonic rs3796648 FAT1 AU nonsynonymous SNV NM_005245 exon10 c.C6822G p.D2274E 0.0682907 0.1796 0.023510 0.0635 0.1870 1 T 0.000 P -0.969 T 0.0 T 0.0 T Pathogenic 4_187541761_G->A 4 187541761 187541761 G A snp 6721.77 1/1 99 250 0 250 1.0 exonic rs3733407 FAT1 AU synonymous SNV NM_005245 exon10 c.C5979T p.T1993T 0.0682907 0.1796 0.024405 0.0635 0.1872 Uncertain 4_187541859_C->T 4 187541859 187541859 C T snp 3452.77 0/1 99 249 116 133 0.53 exonic rs560450489 FAT1 AU nonsynonymous SNV NM_005245 exon10 c.G5881A p.G1961S 0.000199681 0.001 0.0001 0.0010 1 T 0.922 N -0.937 T 0.006 T 0.003 T Pathogenic 4_187542316_T->C 4 187542316 187542316 T C snp 7716.77 1/1 99 247 0 247 1.0 exonic rs2099854 FAT1 AU synonymous SNV NM_005245 exon10 c.A5424G p.V1808V 0.0684904 0.1806 0.024117 0.0634 0.1878 Uncertain 4_187542736_T->C 4 187542736 187542736 T C snp 6145.77 1/1 99 223 1 222 1.0 exonic rs35753072 FAT1 AU synonymous SNV NM_005245 exon10 c.A5004G p.T1668T 0.0682907 0.1796 0.024382 0.0633 0.1878 Uncertain 4_187542940_A->G 4 187542940 187542940 A G snp 1772.77 1/1 99 56 0 56 1.0 intronic rs77370153 FAT1 AU NM_005245 exon18 c.33184+11A>G 0.0686901 0.1815 0.019285 0.1001 0.2739 Uncertain 4_187549428_C->T 4 187549428 187549428 C T snp 6315.77 1/1 99 228 0 228 1.0 exonic rs2304867 FAT1 AU nonsynonymous SNV NM_005245 exon9 c.G4690A p.A1564T 0.0690895 0.1825 0.023370 0.0642 0.1919 0.4 T 0.487 P -0.881 T 0.152 T 0.022 T Pathogenic 4_187549582_G->A 4 187549582 187549582 G A snp 5604.77 1/1 99 206 0 206 1.0 intronic rs2304866 FAT1 AU NM_005245 exon20 c.39896-59G>A 0.0690895 0.1825 Uncertain 4_187557148_A->T 4 187557148 187557148 A T snp 660.77 1/1 51 24 0 24 1.0 intronic rs75263492 FAT1 AU NM_005245 exon22 c.47433-30A>T 0.0688898 0.1815 0.024366 0.0651 0.1931 Uncertain 4_187557893_T->C 4 187557893 187557893 T C snp 7019.77 1/1 99 249 1 248 1.0 exonic rs328418 FAT1 AU nonsynonymous SNV NM_005245 exon5 c.A3818G p.H1273R 0.645767 0.6786 0.633763 0.5876 0.6868 1 T 0.003 P -0.954 T 0.0 T 0.0 T Pathogenic 4_187560813_G->- 4 187560813 187560813 G - indel 326.75 1/1 24 8 0 8 1.0 intronic rs77346323 FAT1 AU NM_005245 exon24 c.51130-62delG 0.0706869 0.1875 0.024282 Uncertain 4_187561080_A->G 4 187561080 187561080 A G snp 311.78 1/1 24 10 0 10 1.0 intronic rs10001377 FAT1 AU NM_005245 exon24 c.51192+143A>G 0.446885 0.6042 Uncertain 4_187584771_C->G 4 187584771 187584771 C G snp 2788.77 1/1 99 92 0 92 1.0 splicing rs172903 FAT1 AU NM_005245 exon25 c.75022+4C>G 0.983427 1 0.962488 0.9673 0.9999 Pathogenic 4_187627660_A->- 4 187627660 187627660 A - indel 244.73 0/1 99 64 39 25 0.39 intronic rs200130748 FAT1 AU NM_005245 exon26 c.117971-56delA 0.414537 0.3363 Uncertain 4_187627792_T->C 4 187627792 187627792 T C snp 2672.77 0/1 99 232 116 116 0.5 exonic rs11939575 FAT1 AU nonsynonymous SNV NM_005245 exon2 c.A3190G p.R1064G 0.745807 0.5 0.827223 0.7609 0.4978 1 T 0.004 P -0.947 T 0.0 T 0.0 T Pathogenic 4_187628398_C->G 4 187628398 187628398 C G snp 2108.77 0/1 99 179 101 78 0.44 exonic rs1877731 FAT1 AU nonsynonymous SNV NM_005245 exon2 c.G2584C p.V862L 0.689097 0.502 0.775523 0.7460 0.4980 1 T 0.0 P -0.935 T 0.0 T 0.0 T Pathogenic 4_187629140_G->C 4 187629140 187629140 G C snp 3065.77 0/1 99 250 128 122 0.49 exonic rs367863 FAT1 AU nonsynonymous SNV NM_005245 exon2 c.C1842G p.F614L 0.690495 0.502 0.780077 0.7476 0.4986 0.87 T 0.000 P -0.980 T 0.0 T 0.0 T Pathogenic 4_187629497_G->A 4 187629497 187629497 G A snp 2784.77 0/1 99 232 118 114 0.49 exonic rs458021 FAT1 AU synonymous SNV NM_005245 exon2 c.C1485T p.N495N 0.421925 0.2242 0.561766 0.5644 0.2294 Uncertain 4_187629770_A->C 4 187629770 187629770 A C snp 2841.77 0/1 99 250 132 118 0.47 exonic rs3733414 FAT1 AU nonsynonymous SNV NM_005245 exon2 c.T1212G p.S404R 0.398962 0.2242 0.543157 0.5576 0.2297 0.43 T 0.0 P -0.899 T 0.134 T 0.032 T Pathogenic 4_187630905_C->T 4 187630905 187630905 C T snp 1257.77 0/1 99 123 75 48 0.39 exonic rs75367100 FAT1 AU nonsynonymous SNV NM_005245 exon2 c.G77A p.R26Q 0.0303514 0.0833 0.001435 0.0234 0.0934 0.06 T 1 N -1.047 T 0.057 T 0.002 T Pathogenic 4_188924979_C->T 4 188924979 188924979 C T snp 2174.77 1/1 99 79 0 79 1.0 UTR3 rs6815391 ZFP42 AU 0.386182 0.6905 Uncertain 4_189012456_C->T 4 189012456 189012456 C T snp 402.77 0/1 99 49 33 16 0.33 UTR3 rs2279548 TRIML2 AU 0.243011 0.5556 Uncertain 4_189012458_C->A 4 189012458 189012458 C A snp 398.77 0/1 99 49 33 16 0.33 UTR3 rs2279549 TRIML2 AU 0.243011 0.5556 Uncertain 4_189012728_G->C 4 189012728 189012728 G C snp 7769.77 1/1 99 250 0 250 1.0 exonic rs2279550 TRIML2 AU synonymous SNV NM_173553 exon7 c.C1113G p.G371G 0.71246 0.9117 0.560818 0.5575 0.9187 Uncertain 4_189012809_C->T 4 189012809 189012809 C T snp 3018.77 0/1 99 249 129 120 0.48 exonic rs2279551 TRIML2 AU synonymous SNV NM_173553 exon7 c.G1032A p.S344S 0.161142 0.4861 0.045748 0.1038 0.5045 Uncertain 4_189013880_T->G 4 189013880 189013880 T G snp 56.74 1/1 6 2 0 2 1.0 intronic rs12499630 TRIML2 AU NM_001303419 exon1 c.569+785T>G 0.447284 0.7054 Uncertain 4_189018117_G->T 4 189018117 189018117 G T snp 390.77 0/1 99 59 40 19 0.32 intronic rs12500011 TRIML2 AU NM_001303419 exon2 c.5688-97G>T 0.197883 0.4841 Uncertain 4_189018486_A->G 4 189018486 189018486 A G snp 713.77 0/1 99 55 26 29 0.53 exonic rs17883789 TRIML2 AU synonymous SNV NM_173553 exon5 c.T636C p.S212S 0.141573 0.1935 0.129479 0.1478 0.2154 Uncertain 4_189018613_A->G 4 189018613 189018613 A G snp 133.77 0/1 99 14 7 7 0.5 intronic rs10004012 TRIML2 AU NM_001303419 exon3 c.5974+113A>G 0.282348 0.5546 Uncertain 4_189019273_-->G 4 189019273 189019273 - G indel 382.73 0/1 99 37 20 17 0.46 intronic rs150419485 TRIML2 AU NM_001303419 exon4 c.6832-85insG Uncertain 4_189019515_T->C 4 189019515 189019515 T C snp 219.77 0/1 99 15 8 7 0.47 intronic rs145281509 TRIML2 AU NM_001303419 exon4 c.6907+82T>C 0.000599042 0.003 Uncertain 4_189022324_C->T 4 189022324 189022324 C T snp 1484.77 0/1 99 150 87 63 0.42 exonic rs79698746 TRIML2 AU synonymous SNV NM_001303419 exon3 c.G366A p.Q122Q 0.201278 0.4861 0.083500 0.1153 0.5053 Uncertain 4_189022420_A->G 4 189022420 189022420 A G snp 514.77 0/1 99 30 14 16 0.53 intronic rs4862860 TRIML2 AU NM_001303419 exon6 c.9878+16A>G 0.163339 0.1935 0.154621 0.1579 0.2146 Uncertain 4_189026524_C->G 4 189026524 189026524 C G snp 344.77 0/1 99 16 4 12 0.75 UTR5 rs13139393 TRIML2 AU 0.131989 0.1786 0.1824 0.2413 Uncertain 4_189060610_G->C 4 189060610 189060610 G C snp 74.77 0/1 96 7 3 4 0.57 UTR5 rs11934889 TRIML1 AU 0.471046 0.2669 Uncertain 4_189060623_G->A 4 189060623 189060623 G A snp 79.77 0/1 99 8 4 4 0.5 UTR5 rs62354295 TRIML1 AU 0.072484 0.1925 Uncertain 4_189061823_G->A 4 189061823 189061823 G A snp 679.77 0/1 99 75 45 30 0.4 intronic rs62354297 TRIML1 AU NM_178556 exon2 c.1065+46G>A 0.0980431 0.1925 0.059588 0.0792 0.2110 Uncertain 4_189063362_GTGTGTGTGTGTGTGT->- 4 189063362 189063377 GTGTGTGTGTGTGTGT - indel 4397.73 ./1 99 34 0 34 1.0 intronic rs570074898 TRIML1 AU NM_178556 exon3 c.2693-43_2693-28delGTGTGTGTGTGTGTGT 0.1372 0.2911 Uncertain 4_189063362_GTGTGT->- 4 189063362 189063367 GTGTGT - indel 4397.73 ./1 99 34 0 34 1.0 intronic rs530535603 TRIML1 AU NM_178556 exon3 c.2693-43_2693-38delGTGTGT 0.3728 0.2274 Uncertain 4_189063392_G->A 4 189063392 189063392 G A snp 900.77 0/1 99 53 18 35 0.66 intronic rs78828180 TRIML1 AU NM_178556 exon3 c.2693-13G>A 0.133786 0.2262 0.081052 0.1178 0.2595 Uncertain 4_189064860_C->A 4 189064860 189064860 C A snp 1789.77 0/1 99 127 58 69 0.54 intronic rs62351463 TRIML1 AU NM_178556 exon4 c.4279-131C>A 0.0988419 0.1915 Uncertain 4_189064873_C->T 4 189064873 189064873 C T snp 1600.77 0/1 99 160 87 73 0.46 intronic rs72725001 TRIML1 AU NM_178556 exon4 c.4279-118C>T 0.19349 0.2956 Uncertain 4_189064952_C->G 4 189064952 189064952 C G snp 2590.77 0/1 99 248 134 114 0.46 intronic rs28463290 TRIML1 AU NM_178556 exon4 c.4279-39C>G 0.453874 0.3591 0.499154 0.5622 0.3675 Uncertain 4_189065055_C->G 4 189065055 189065055 C G snp 1219.77 0/1 99 114 60 54 0.47 intronic rs11940009 TRIML1 AU NM_178556 exon4 c.4302+41C>G 0.205272 0.3234 0.110026 0.1430 0.3067 Uncertain 4_189065104_T->G 4 189065104 189065104 T G snp 1598.77 1/1 99 49 0 49 1.0 intronic rs9784566 TRIML1 AU NM_178556 exon5 c.4477-85T>G 0.761781 0.6111 0.856767 Uncertain 4_189065128_T->C 4 189065128 189065128 T C snp 463.77 0/1 99 40 22 18 0.45 intronic rs61075538 TRIML1 AU NM_178556 exon5 c.4477-61T>C 0.176518 0.246 Uncertain 4_189065419_G->C 4 189065419 189065419 G C snp 249.77 0/1 99 19 10 9 0.47 intronic rs77686774 TRIML1 AU NM_178556 exon5 c.4575+132G>C 0.164736 0.3085 Uncertain 4_190328957_C->T 4 190328957 190328957 C T snp 1067.77 1/1 78 31 0 31 1.0 intergenic rs67780838 LINC01060 AU 0.303514 0.4077 Uncertain 4_190329166_-->CA 4 190329166 190329166 - CA indel 816.73 0/1 51 40 3 37 0.93 intergenic rs10622647 LINC01060 AU 0.470847 0.4802 Uncertain 4_190394939_AAGAAG->- 4 190394939 190394944 AAGAAG - indel 2482.73 1/1 93 31 0 31 1.0 intergenic rs138612273 LINC01060 AU Uncertain 4_190862083_T->C 4 190862083 190862083 T C snp 611.77 0/1 99 69 44 25 0.36 UTR5 FRG1 AU 0.464856 0.3929 Uncertain 4_190862154_T->C 4 190862154 190862154 T C snp 33.77 0/1 62 173 150 23 0.13 UTR5 FRG1 AU 0.178514 0.1161 0.147547 0.0625 0.1125 Uncertain 4_190862155_T->G 4 190862155 190862155 T G snp 1248.77 0/1 99 175 118 57 0.33 UTR5 FRG1 AU 0.26877 0.2768 0.294941 0.2798 0.2665 Uncertain 4_190862179_C->T 4 190862179 190862179 C T snp 245.77 0/1 99 201 178 23 0.11 exonic FRG1 AU synonymous SNV NM_004477 exon1 c.C15T p.S5S 8.277e-06 0.0001 Uncertain 4_190862182_C->T 4 190862182 190862182 C T snp 2349.77 0/1 99 204 99 105 0.51 exonic FRG1 AU synonymous SNV NM_004477 exon1 c.C18T p.Y6Y 0.464257 0.3938 0.457866 0.3495 0.3804 Uncertain 4_190862200_C->T 4 190862200 190862200 C T snp 435.77 0/1 99 247 218 29 0.12 exonic FRG1 AU synonymous SNV NM_004477 exon1 c.C36T p.L12L 0.000199681 2.489e-05 0.0001 Uncertain 4_190862204_C->T 4 190862204 190862204 C T snp 813.77 0/1 99 248 187 61 0.25 exonic FRG1 AU nonsynonymous SNV NM_004477 exon1 c.C40T p.L14F 0.000231 3.32e-05 0 0.34 T 1.000 D -1.001 T 0.824 T 0.587 P Pathogenic 4_190862219_A->G 4 190862219 190862219 A G snp 959.77 0/1 99 250 178 72 0.29 exonic FRG1 AU nonsynonymous SNV NM_004477 exon1 c.A55G p.T19A 0.75 T 1.000 N -0.990 T 0.0 T 0.0 T Pathogenic 4_190862239_G->C 4 190862239 190862239 G C snp 532.77 0/1 99 231 196 35 0.15 intronic FRG1 AU NM_004477 exon1 c.62+13G>C 8.426e-06 0 Uncertain 4_190862242_T->C 4 190862242 190862242 T C snp 1276.77 0/1 99 224 118 106 0.47 intronic FRG1 AU NM_004477 exon1 c.62+16T>C Uncertain 4_190862243_G->T 4 190862243 190862243 G T snp 935.77 0/1 99 222 117 105 0.47 intronic FRG1 AU NM_004477 exon1 c.62+17G>T Uncertain 4_190862255_C->T 4 190862255 190862255 C T snp 87.77 0/1 99 201 178 23 0.11 intronic FRG1 AU NM_004477 exon1 c.62+29C>T Uncertain 4_190862259_C->A 4 190862259 190862259 C A snp 1837.77 0/1 99 197 92 105 0.53 intronic FRG1 AU NM_004477 exon1 c.62+33C>A Uncertain 4_190862268_C->T 4 190862268 190862268 C T snp 400.77 0/1 99 185 147 38 0.21 intronic FRG1 AU NM_004477 exon1 c.62+42C>T 0.000154 2.611e-05 0.0001 Uncertain 4_190862284_C->T 4 190862284 190862284 C T snp 264.77 0/1 99 140 113 27 0.19 intronic FRG1 AU NM_004477 exon1 c.62+58C>T Uncertain 4_190862286_G->T 4 190862286 190862286 G T snp 482.77 0/1 99 133 104 29 0.22 intronic FRG1 AU NM_004477 exon1 c.62+60G>T Uncertain 4_190862287_C->T 4 190862287 190862287 C T snp 483.77 0/1 99 131 104 27 0.21 intronic FRG1 AU NM_004477 exon1 c.62+61C>T 0.265775 0.2748 0.282990 Uncertain 4_190862288_A->G 4 190862288 190862288 A G snp 1610.77 0/1 99 129 55 74 0.57 intronic FRG1 AU NM_004477 exon1 c.62+62A>G Uncertain 4_190862290_C->A 4 190862290 190862290 C A snp 1347.77 0/1 99 124 53 71 0.57 intronic FRG1 AU NM_004477 exon1 c.62+64C>A Uncertain 4_190862302_C->T 4 190862302 190862302 C T snp 525.77 0/1 99 107 75 32 0.3 intronic FRG1 AU NM_004477 exon1 c.62+76C>T Uncertain 4_190862307_G->C 4 190862307 190862307 G C snp 86.77 0/1 99 97 85 12 0.12 intronic FRG1 AU NM_004477 exon1 c.62+81G>C Uncertain 4_190862311_G->A 4 190862311 190862311 G A snp 770.77 0/1 99 92 58 34 0.37 intronic FRG1 AU NM_004477 exon1 c.62+85G>A Uncertain 4_190862318_C->T 4 190862318 190862318 C T snp 465.77 0/1 99 81 58 23 0.28 intronic FRG1 AU NM_004477 exon1 c.62+92C>T Uncertain 4_190862330_C->A 4 190862330 190862330 C A snp 340.77 0/1 99 58 42 16 0.28 intronic FRG1 AU NM_004477 exon1 c.62+104C>A Uncertain 4_190862341_C->T 4 190862341 190862341 C T snp 35.77 0/1 64 37 32 5 0.14 intronic FRG1 AU NM_004477 exon1 c.62+115C>T Uncertain 4_190862342_G->A 4 190862342 190862342 G A snp 32.77 0/1 61 32 28 4 0.13 intronic FRG1 AU NM_004477 exon1 c.62+116G>A Uncertain 4_190862367_G->T 4 190862367 190862367 G T snp 58.77 0/1 87 11 8 3 0.27 intronic FRG1 AU NM_004477 exon1 c.62+141G>T Uncertain 4_190863127_C->G 4 190863127 190863127 C G snp 906.77 0/1 99 71 35 36 0.51 intronic FRG1 AU NM_004477 exon1 c.62+901C>G 0.26857 0.2768 Uncertain 4_190876137_C->T 4 190876137 190876137 C T snp 176.77 0/1 99 222 200 22 0.1 intronic FRG1 AU NM_004477 exon5 c.14027-54C>T Uncertain 4_190876160_C->T 4 190876160 190876160 C T snp 3379.77 0/1 99 250 88 162 0.65 intronic FRG1 AU NM_004477 exon5 c.14027-31C>T 0.3473 0.3567 Uncertain 4_190876177_G->C 4 190876177 190876177 G C snp 4325.77 0/1 99 250 75 175 0.7 intronic FRG1 AU NM_004477 exon5 c.14027-14G>C 0.2863 0.3056 Uncertain 4_190876186_G->A 4 190876186 190876186 G A snp 271.77 0/1 99 249 222 27 0.11 splicing FRG1 AU NM_004477 exon5 c.14027-5G>A 0.0274 0.0467 Pathogenic 4_190876192_A->C 4 190876192 190876192 A C snp 222.77 0/1 99 250 222 28 0.11 exonic FRG1 AU nonsynonymous SNV NM_004477 exon5 c.A318C p.R106S 0.0250 0.0232 1.000 D -0.839 T 0.951 T 0.85 D Pathogenic 4_190876195_C->T 4 190876195 190876195 C T snp 3901.77 0/1 99 249 108 141 0.57 exonic FRG1 AU synonymous SNV NM_004477 exon5 c.C321T p.I107I 0.290735 0.2837 0.5007 0.4955 Uncertain 4_190876204_G->A 4 190876204 190876204 G A snp 4242.77 0/1 99 250 77 173 0.69 exonic FRG1 AU synonymous SNV NM_004477 exon5 c.G330A p.K110K 0.4521 0.4672 Uncertain 4_190876242_G->A 4 190876242 190876242 G A snp 5652.77 0/1 99 250 49 201 0.8 exonic FRG1 AU nonsynonymous SNV NM_004477 exon5 c.G368A p.G123E 0.4897 0.4997 0.07 T 1 D -0.785 T 0.158 T 0.231 T Pathogenic 4_190876256_C->T 4 190876256 190876256 C T snp 811.77 0/1 99 248 205 43 0.17 exonic FRG1 AU nonsynonymous SNV NM_004477 exon5 c.C382T p.R128C 0.0984 0.1421 0.01 T 1 D -1.013 T 0.072 T 0.067 T Pathogenic 4_190876263_A->T 4 190876263 190876263 A T snp 108.77 0/1 99 242 217 25 0.1 exonic FRG1 AU nonsynonymous SNV NM_004477 exon5 c.A389T p.D130V 0.0025 0.0020 0 D 1 D -0.184 T 1.0 D 0.997 D Pathogenic 4_190876278_G->A 4 190876278 190876278 G A snp 274.77 0/1 99 228 203 25 0.11 exonic FRG1 AU nonsynonymous SNV NM_004477 exon5 c.G404A p.R135K 0.0400 0.0571 0.29 T 1.000 D -1.007 T 0.001 T 0.012 T Pathogenic 4_190876293_C->A 4 190876293 190876293 C A snp 302.77 0/1 99 212 188 24 0.11 exonic FRG1 AU nonsynonymous SNV NM_004477 exon5 c.C419A p.P140Q 0.0342 0.0495 0.01 T 1 D -0.193 T 1.0 D 0.998 D Pathogenic 4_190876319_A->T 4 190876319 190876319 A T snp 3633.77 0/1 99 187 68 119 0.64 intronic FRG1 AU NM_004477 exon5 c.14142+13A>T 0.4954 0.4998 Uncertain 4_190876349_C->T 4 190876349 190876349 C T snp 2536.77 0/1 99 157 74 83 0.53 intronic FRG1 AU NM_004477 exon5 c.14142+43C>T 0.3707 0.4178 Uncertain 4_190876351_G->C 4 190876351 190876351 G C snp 181.77 0/1 99 155 136 19 0.12 intronic FRG1 AU NM_004477 exon5 c.14142+45G>C 0.0063 0.0090 Uncertain 4_190876360_T->- 4 190876360 190876360 T - indel 3714.73 0/1 99 121 12 109 0.9 intronic FRG1 AU NM_004477 exon5 c.14142+54delT Uncertain 4_190876361_T->A 4 190876361 190876361 T A snp 37.77 0/1 66 127 116 11 0.09 intronic FRG1 AU NM_004477 exon5 c.14142+55T>A Uncertain 4_190876378_A->G 4 190876378 190876378 A G snp 79.77 0/1 99 57 50 7 0.12 intronic FRG1 AU NM_004477 exon5 c.14142+72A>G Uncertain 4_190878380_T->A 4 190878380 190878380 T A snp 41.77 0/1 31 5 1 4 0.8 intronic FRG1 AU NM_004477 exon6 c.16388-172T>A Uncertain 4_190878452_T->C 4 190878452 190878452 T C snp 97.77 0/1 99 152 139 13 0.09 intronic FRG1 AU NM_004477 exon6 c.16388-100T>C Uncertain 4_190878453_G->A 4 190878453 190878453 G A snp 73.77 0/1 99 156 144 12 0.08 intronic FRG1 AU NM_004477 exon6 c.16388-99G>A Uncertain 4_190878463_T->G 4 190878463 190878463 T G snp 1034.77 0/1 99 201 131 70 0.35 intronic FRG1 AU NM_004477 exon6 c.16388-89T>G Uncertain 4_190878472_A->G 4 190878472 190878472 A G snp 470.77 0/1 99 233 204 29 0.12 intronic FRG1 AU NM_004477 exon6 c.16388-80A>G 0.329073 0.2688 Uncertain 4_190878485_G->A 4 190878485 190878485 G A snp 692.77 0/1 99 250 172 78 0.31 intronic FRG1 AU NM_004477 exon6 c.16388-67G>A Uncertain 4_190878506_C->T 4 190878506 190878506 C T snp 1241.77 0/1 99 250 76 174 0.7 intronic FRG1 AU NM_004477 exon6 c.16388-46C>T 0.4876 0.4910 Uncertain 4_190878508_C->T 4 190878508 190878508 C T snp 126.77 0/1 99 250 206 44 0.18 intronic rs12643924 FRG1 AU NM_004477 exon6 c.16388-44C>T 4.046e-05 0 Uncertain 4_190878538_-->T 4 190878538 190878538 - T indel 4774.73 0/1 99 166 24 142 0.86 intronic FRG1 AU NM_004477 exon6 c.16388-14insT 0.0936502 0.0516 0.0375 0.0406 Uncertain 4_190878563_C->A 4 190878563 190878563 C A snp 343.77 0/1 99 249 216 33 0.13 exonic FRG1 AU nonsynonymous SNV NM_004477 exon6 c.C443A p.A148D 0.0761 0.0812 0 D 1 D -0.139 T 0.997 D 0.999 D Pathogenic 4_190878597_C->T 4 190878597 190878597 C T snp 2062.77 0/1 99 250 140 110 0.44 exonic FRG1 AU synonymous SNV NM_004477 exon6 c.C477T p.C159C 0.4977 0.4991 Uncertain 4_190878654_C->G 4 190878654 190878654 C G snp 405.77 0/1 99 249 213 36 0.14 exonic FRG1 AU nonsynonymous SNV NM_004477 exon6 c.C534G p.I178M 0.4769 0.4752 0.06 T 1.000 D -0.456 T 0.392 T 0.878 T Pathogenic 4_190878661_A->T 4 190878661 190878661 A T snp 1324.77 0/1 99 249 181 68 0.27 splicing FRG1 AU NM_004477 exon6 c.16493+4A>T 0.4992 0.4998 Pathogenic 4_190878662_T->C 4 190878662 190878662 T C snp 833.77 0/1 99 249 200 49 0.2 splicing FRG1 AU NM_004477 exon6 c.16493+5T>C 0.000199681 0.001 1.7e-05 0.0001 Pathogenic 4_190878700_G->A 4 190878700 190878700 G A snp 761.77 0/1 99 226 179 47 0.21 intronic FRG1 AU NM_004477 exon6 c.16493+43G>A Uncertain 4_190878729_A->G 4 190878729 190878729 A G snp 3161.77 0/1 99 178 47 131 0.74 intronic FRG1 AU NM_004477 exon6 c.16493+72A>G Uncertain 4_190878731_G->C 4 190878731 190878731 G C snp 3068.77 0/1 99 175 47 128 0.73 intronic FRG1 AU NM_004477 exon6 c.16493+74G>C Uncertain 4_190878732_G->A 4 190878732 190878732 G A snp 3088.77 0/1 99 176 48 128 0.73 intronic FRG1 AU NM_004477 exon6 c.16493+75G>A Uncertain 4_190878741_T->A 4 190878741 190878741 T A snp 112.77 0/1 99 170 147 23 0.14 intronic FRG1 AU NM_004477 exon6 c.16493+84T>A Uncertain 4_190878742_G->C 4 190878742 190878742 G C snp 336.77 0/1 99 169 147 22 0.13 intronic FRG1 AU NM_004477 exon6 c.16493+85G>C 0.263778 0.2768 Uncertain 4_190878750_A->G 4 190878750 190878750 A G snp 207.77 0/1 99 160 139 21 0.13 intronic FRG1 AU NM_004477 exon6 c.16493+93A>G Uncertain 4_190878759_C->G 4 190878759 190878759 C G snp 986.77 0/1 99 139 82 57 0.41 intronic FRG1 AU NM_004477 exon6 c.16493+102C>G Uncertain 4_190878765_A->G 4 190878765 190878765 A G snp 42.77 0/1 71 120 102 18 0.15 intronic FRG1 AU NM_004477 exon6 c.16493+108A>G Uncertain 4_190882911_A->T 4 190882911 190882911 A T snp 44.77 0/1 73 49 35 14 0.29 intronic FRG1 AU NM_004477 exon8 c.20812-65A>T Uncertain 4_190882917_A->G 4 190882917 190882917 A G snp 51.77 0/1 80 62 43 19 0.31 intronic FRG1 AU NM_004477 exon8 c.20812-59A>G Uncertain 4_190882925_T->C 4 190882925 190882925 T C snp 74.77 0/1 99 77 60 17 0.22 intronic FRG1 AU NM_004477 exon8 c.20812-51T>C Uncertain 4_190882973_A->G 4 190882973 190882973 A G snp 515.77 0/1 99 107 34 73 0.68 splicing FRG1 AU NM_004477 exon8 c.20812-3A>G 4.297e-05 0 Pathogenic 4_190883051_G->A 4 190883051 190883051 G A snp 288.77 0/1 99 137 68 69 0.5 exonic FRG1 AU nonsynonymous SNV NM_004477 exon8 c.G704A p.R235Q 3.429e-05 0.0001 0.1 T 1.000 D -1.077 T 0.279 T 0.089 T Pathogenic 4_190884225_-->TTC 4 190884225 190884225 - TTC indel 596.73 0/1 99 31 19 12 0.39 intronic FRG1 AU NM_004477 exon9 c.22083-22insTTC 0.41873 0.3909 0.404381 0.3120 0.3506 Uncertain 4_190884477_T->G 4 190884477 190884477 T G snp 225.84 1/1 18 7 0 7 1.0 downstream FRG1 AU 0.270767 0.2768 Uncertain 4_190884484_T->A 4 190884484 190884484 T A snp 185.9 1/1 15 6 0 6 1.0 downstream FRG1 AU 0.36262 0.2917 Uncertain 4_190903688_C->T 4 190903688 190903688 C T snp 183.77 0/1 99 11 5 6 0.55 intergenic FRG1 AU 0.285942 0.2619 0.316162 0.2952 0.2603 Uncertain 4_190903938_C->T 4 190903938 190903938 C T snp 691.77 0/1 99 83 47 36 0.43 intergenic FRG1 AU 0.3017 0.2577 Uncertain 4_190903950_A->G 4 190903950 190903950 A G snp 738.77 0/1 99 73 42 31 0.42 intergenic FRG1 AU 0.3002 0.2558 Uncertain 4_190904030_T->C 4 190904030 190904030 T C snp 81.77 0/1 67 5 2 3 0.6 intergenic rs4613613 FRG1 AU 0.192891 0.1577 0.1994 0.1661 Uncertain 4_190904031_G->T 4 190904031 190904031 G T snp 81.77 0/1 69 5 2 3 0.6 intergenic FRG1 AU 0.192891 0.1577 0.1959 0.1621 Uncertain 4_190947369_C->T 4 190947369 190947369 C T snp 128.77 0/1 99 27 11 16 0.59 intronic FRG2 AU NM_001005217 exon1 c.506+148C>T Uncertain 4_190947451_C->T 4 190947451 190947451 C T snp 655.77 0/1 99 212 158 54 0.25 intronic FRG2 AU NM_001005217 exon2 c.823-87C>T 0.414537 0.5159 Uncertain 4_190981393_C->T 4 190981393 190981393 C T snp 56.77 0/1 85 19 10 9 0.47 intergenic FRG2 AU Uncertain 4_190981482_T->- 4 190981482 190981482 T - indel 1742.73 1/1 86 50 2 48 0.96 intergenic FRG2 AU Uncertain 5_163260_A->C 5 163260 163260 A C snp 2768.77 1/1 99 102 1 101 0.99 exonic rs29674 PLEKHG4B AU nonsynonymous SNV NM_052909 exon11 c.A2005C p.T669P 0.96885 0.8482 0.999614 0.9882 0.8530 0.29 T 0.0 P -1.036 T 0.0 T 0.0 T Pathogenic 5_163769_G->A 5 163769 163769 G A snp 287.77 0/1 99 25 13 12 0.48 intronic rs29675 PLEKHG4B AU NM_052909 exon11 c.23241+106G>A 0.65016 0.4673 Uncertain 5_169361_C->T 5 169361 169361 C T snp 71.77 0/1 99 8 5 3 0.38 intronic rs13159868 PLEKHG4B AU NM_052909 exon12 c.29032-93C>T 0.398962 0.2798 Uncertain 5_169763_A->G 5 169763 169763 A G snp 288.77 0/1 99 21 11 10 0.48 intronic rs1108868 PLEKHG4B AU NM_052909 exon12 c.29285+56A>G 0.465455 0.2798 Uncertain 5_171569_T->C 5 171569 171569 T C snp 777.77 0/1 99 74 41 33 0.45 intronic rs4956981 PLEKHG4B AU NM_052909 exon14 c.31137+10T>C 0.551717 0.2827 0.691744 0.6665 0.3253 Uncertain 5_171643_C->G 5 171643 171643 C G snp 265.77 0/1 99 33 19 14 0.42 intronic rs13171103 PLEKHG4B AU NM_052909 exon14 c.31137+84C>G 0.546725 0.2827 Uncertain 5_172971_G->A 5 172971 172971 G A snp 491.77 0/1 99 35 14 21 0.6 intronic rs6868964 PLEKHG4B AU NM_052909 exon15 c.32589-40G>A 0.456869 0.2768 0.564739 0.5219 0.2629 Uncertain 5_173200_C->T 5 173200 173200 C T snp 1114.77 0/1 99 84 35 49 0.58 intronic rs6885136 PLEKHG4B AU NM_052909 exon15 c.32760+18C>T 0.456869 0.2798 0.557281 0.5291 0.2612 Uncertain 5_173258_A->G 5 173258 173258 A G snp 574.77 0/1 99 34 13 21 0.62 intronic rs6893369 PLEKHG4B AU NM_052909 exon15 c.32760+76A>G 0.539537 0.2698 Uncertain 5_174106_G->A 5 174106 174106 G A snp 790.77 0/1 99 76 42 34 0.45 exonic rs4956987 PLEKHG4B AU nonsynonymous SNV NM_052909 exon16 c.G3227A p.R1076Q 0.338858 0.2659 0.419960 0.4992 0.2857 0.08 T 0.019 P -0.916 T 0.994 D 0.862 D Pathogenic 5_181660_T->G 5 181660 181660 T G snp 783.77 0/1 99 76 41 35 0.46 exonic rs7717970 PLEKHG4B AU synonymous SNV NM_052909 exon17 c.T3366G p.G1122G 0.439097 0.2589 0.559819 0.5746 0.2420 Uncertain 5_181730_C->G 5 181730 181730 C G snp 751.77 0/1 99 64 27 37 0.58 exonic rs12519352 PLEKHG4B AU nonsynonymous SNV NM_052909 exon17 c.C3436G p.R1146G 0.33147 0.256 0.416423 0.4659 0.2409 0.08 T 0.000 P -0.965 T 0.997 D 0.859 D Pathogenic 5_181762_A->G 5 181762 181762 A G snp 609.77 0/1 99 34 10 24 0.71 exonic rs11133847 PLEKHG4B AU synonymous SNV NM_052909 exon17 c.A3468G p.R1156R 0.435503 0.2579 0.553514 0.5757 0.2416 Uncertain 5_182077_T->A 5 182077 182077 T A snp 3050.77 0/1 99 250 121 129 0.52 intronic rs4956924 PLEKHG4B AU NM_052909 exon18 c.41696-41T>A 0.353634 0.2698 0.436875 0.4742 0.2630 Uncertain 5_195507_C->T 5 195507 195507 C T snp 886.77 0/1 99 72 39 33 0.46 downstream rs13167067 LRRC14B AU 0.36881 0.2728 0.443128 0.5119 0.2942 Uncertain 5_225768_G->C 5 225768 225768 G C snp 382.77 0/1 99 21 8 13 0.62 intronic rs12520059 SDHA AU,AD,AO,AR NM_004168 exon4 c.7207+91G>C 0.329273 0.2768 Uncertain 5_230980_A->G 5 230980 230980 A G snp 5102.77 1/1 99 176 0 176 1.0 intronic rs2288461 SDHA AU,AD,AO,AR NM_001294332 exon6 c.12520-10A>G 0.858427 0.628 0.912579 0.8810 0.6643 Uncertain 5_231111_T->C 5 231111 231111 T C snp 549.77 0/1 99 45 21 24 0.53 exonic rs1126417 SDHA AU,AD,AO,AR synonymous SNV NM_004168 exon7 c.T891C p.P297P 0.653355 0.3363 0.768687 0.7078 0.3281 CLINSIG=probable-non-pathogenic|non-pathogenic;CLNDBN=not_specified|Hereditary_cancer-predisposing_syndrome;CLNREVSTAT=no_assertion_criteria_provided|criteria_provided\x2c_single_submitter;CLNACC=RCV000118321.2|RCV000162482.1;CLNDSDB=MedGen|MedGen:SNOMED_CT;CLNDSDBID=CN169374|C0027672:699346009 Uncertain 5_256472_G->A 5 256472 256472 G A snp 212.77 0/1 99 218 177 41 0.19 exonic rs6961 SDHA AU,AD,AO,AR synonymous SNV NM_004168 exon15 c.G1932A p.V644V 0.335264 0.2312 0.278256 0.1716 0.0866 CLINSIG=probable-non-pathogenic|non-pathogenic;CLNDBN=not_specified|Hereditary_cancer-predisposing_syndrome;CLNREVSTAT=no_assertion_criteria_provided|criteria_provided\x2c_single_submitter;CLNACC=RCV000118316.2|RCV000162483.1;CLNDSDB=MedGen|MedGen:SNOMED_CT;CLNDSDBID=CN169374|C0027672:699346009 Uncertain 5_256514_G->C 5 256514 256514 G C snp 225.77 0/1 99 178 143 35 0.2 exonic rs1042446 SDHA AU,AD,AO,AR synonymous SNV NM_004168 exon15 c.G1974C p.P658P 0.0235 0.0884 Uncertain 5_256573_A->G 5 256573 256573 A G snp 76.77 0/1 99 68 57 11 0.16 UTR3 rs780738058 SDHA AU,AD,AO,AR 0.0391 0.0519 Uncertain 5_256578_T->C 5 256578 256578 T C snp 82.77 0/1 99 63 52 11 0.17 UTR3 rs150891426 SDHA AU,AD,AO,AR 0.0411 0.0550 Uncertain 5_311478_T->C 5 311478 311478 T C snp 3226.07 0/1 99 238 107 131 0.55 exonic rs2244029 PDCD6 AU synonymous SNV NM_001267557 exon3 c.T234C p.I78I 0.605631 0.2649 0.730586 0.6527 0.2552 Uncertain 5_314011_G->A 5 314011 314011 G A snp 1330.77 0/1 99 86 33 53 0.62 intronic rs4957018 AHRR AU NM_001242412 exon1 c.2+9675G>A 0.583466 0.2599 Uncertain 5_343885_T->C 5 343885 343885 T C snp 186.77 0/1 99 10 4 6 0.6 intronic rs2292631 AHRR AU NM_001242412 exon2 c.39673-122T>C 0.380591 0.2857 Uncertain 5_344218_C->T 5 344218 344218 C T snp 228.77 0/1 99 28 16 12 0.43 intronic rs6887387 AHRR AU NM_001242412 exon2 c.39745+139C>T 0.503794 0.2778 Uncertain 5_354051_T->C 5 354051 354051 T C snp 802.77 0/1 99 85 47 38 0.45 intronic rs2013782 AHRR AU NM_001242412 exon3 c.49692+25T>C 0.508387 0.2798 0.602925 0.5732 0.2795 Uncertain 5_422955_C->G 5 422955 422955 C G snp 1470.77 0/1 99 141 80 61 0.43 exonic rs2292596 AHRR AU nonsynonymous SNV NM_020731 exon6 c.C565G p.P189A 0.302470 0.3802 0.3970 0.4 T 0.002 P -0.931 T 0.932 T 0.647 D ID=CM057935;DIS=Endometriosis susceptibility and severity, association with;TAG=DP;PUB=16084889 DP Pathogenic 5_433952_C->T 5 433952 433952 C T snp 102.77 0/1 99 12 7 5 0.42 intronic rs2672724 AHRR AU NM_001242412 exon11 c.129633-15C>T 0.464457 0.375 0.459092 0.4150 0.3518 Uncertain 5_434981_G->C 5 434981 434981 G C snp 528.77 0/1 99 40 20 20 0.5 UTR3 rs2672725 AHRR AU 0.768171 0.5794 0.875932 0.8314 0.6141 Uncertain 5_435055_G->T 5 435055 435055 G T snp 101.77 0/1 99 9 5 4 0.44 UTR3 rs2672779 AHRR AU 0.469449 0.4067 Uncertain 5_453567_G->A 5 453567 453567 G A snp 1139.77 0/1 99 101 54 47 0.47 exonic rs2672722 EXOC3 AU synonymous SNV NM_007277 exon4 c.G447A p.E149E 0.579073 0.5337 0.577404 0.5554 0.5556 Uncertain 5_456915_A->G 5 456915 456915 A G snp 1751.77 0/1 99 138 67 71 0.51 intronic rs2721010 EXOC3 AU NM_007277 exon5 c.10683-88A>G 0.579673 0.5347 Uncertain 5_457955_A->G 5 457955 457955 A G snp 435.77 0/1 99 58 38 20 0.34 intronic rs2251843 EXOC3 AU NM_007277 exon6 c.11694-59A>G 0.588858 0.5357 Uncertain 5_462465_C->A 5 462465 462465 C A snp 1796.77 0/1 99 148 73 75 0.51 intronic rs890972 EXOC3 AU NM_007277 exon9 c.16102+43C>A 0.579673 0.5327 0.577234 0.5223 0.5204 Uncertain 5_462556_G->A 5 462556 462556 G A snp 476.77 0/1 99 28 10 18 0.64 intronic rs2081942 EXOC3 AU NM_007277 exon9 c.16102+134G>A 0.472045 0.4008 Uncertain 5_465510_T->C 5 465510 465510 T C snp 98.77 0/1 99 9 5 4 0.44 intronic rs1035908 EXOC3 AU NM_007277 exon11 c.19067+123T>C 0.815895 0.5675 Uncertain 5_466024_T->C 5 466024 466024 T C snp 630.77 0/1 99 45 21 24 0.53 intronic rs552916889 EXOC3 AU NM_007277 exon12 c.19640+64T>C 0.000399361 0.001 Uncertain 5_466075_G->C 5 466075 466075 G C snp 98.77 0/1 99 15 11 4 0.27 intronic rs10474780 EXOC3 AU NM_007277 exon12 c.19640+115G>C 0.660343 0.5337 Uncertain 5_466811_T->C 5 466811 466811 T C snp 2328.77 0/1 99 182 91 91 0.5 intronic rs2434697 EXOC3 AU NM_007277 exon13 c.20521-30T>C 0.791134 0.5694 0.896411 0.8464 0.5682 Uncertain 5_472951_T->C 5 472951 472951 T C snp 1954.77 0/1 99 130 58 72 0.55 ncRNA_exonic rs890974 PP7080 AU 0.469649 0.4018 0.4931 0.4333 0 D -0.979 T Uncertain 5_473160_G->A 5 473160 473160 G A snp 269.77 0/1 94 11 3 8 0.73 upstream;downstream rs76348935 LOC100288152 AU 0.472644 0.4018 Uncertain 5_473368_G->A 5 473368 473368 G A snp 237.77 0/1 99 22 10 12 0.55 ncRNA_exonic rs34674918 LOC100288152 AU 0.473043 0.4018 Uncertain 5_474946_G->- 5 474946 474946 G - indel 430.73 0/1 99 32 18 14 0.44 ncRNA_intronic rs148557313 LOC100288152 AU Uncertain 5_474974_C->T 5 474974 474974 C T snp 522.77 0/1 99 56 31 25 0.45 ncRNA_intronic rs2721018 LOC100288152 AU 0.471446 0.4008 0.444842 0.4569 0.3620 Uncertain 5_475104_A->G 5 475104 475104 A G snp 1507.77 0/1 99 122 61 61 0.5 exonic rs2247114 SLC9A3 AR nonsynonymous SNV NM_001284351 exon16 c.T2368C p.C790R 0.871325 0.8253 0.5365 1 T 0.839 P -0.960 T 0.0 T 0.0 T Pathogenic 5_475346_A->T 5 475346 475346 A T snp 689.77 0/1 99 33 9 24 0.73 ncRNA_exonic rs2247107 LOC100288152 AU 0.54393 0.4454 Uncertain 5_476530_C->G 5 476530 476530 C G snp 1231.77 0/1 99 107 57 50 0.47 ncRNA_exonic rs2244240 LOC100288152 AU 0.751198 0.5387 0.870752 0.8226 0.5257 Uncertain 5_476848_C->T 5 476848 476848 C T snp 432.77 0/1 99 50 27 23 0.46 ncRNA_intronic rs890976 LOC100288152 AU 0.511182 0.4206 Uncertain 5_476910_T->C 5 476910 476910 T C snp 189.77 0/1 99 16 8 8 0.5 ncRNA_intronic rs890977 LOC100288152 AU 0.804513 0.5694 Uncertain 5_477303_A->G 5 477303 477303 A G snp 592.77 0/1 99 46 26 20 0.43 ncRNA_intronic rs890980 LOC100288152 AU 0.476438 0.4018 Uncertain 5_477639_G->A 5 477639 477639 G A snp 402.77 0/1 99 23 9 14 0.61 ncRNA_intronic rs890981 LOC100288152 AU 0.470447 0.4048 Uncertain 5_478598_C->T 5 478598 478598 C T snp 143.77 0/1 99 14 8 6 0.43 ncRNA_intronic rs3734140 LOC100288152 AU 0.489816 0.5298 Uncertain 5_478655_G->A 5 478655 478655 G A snp 395.77 0/1 99 35 17 18 0.51 ncRNA_intronic rs3734141 LOC100288152 AU 0.708466 0.4167 Uncertain 5_479879_-->C 5 479879 479879 - C indel 308.73 0/1 99 22 11 11 0.5 ncRNA_intronic rs376525752 LOC100288152 AU 0.792931 0.5694 Uncertain 5_479905_A->C 5 479905 479905 A C snp 781.77 0/1 99 52 22 30 0.58 ncRNA_exonic rs890986 LOC100288152 AU 0.792332 0.5694 0.894785 0.8458 0.5636 Uncertain 5_481610_T->C 5 481610 481610 T C snp 1791.77 0/1 99 165 82 83 0.5 intronic rs6872510 SLC9A3 AR NM_004174 exon9 c.8186-69T>C 0.801717 0.5694 Uncertain 5_482186_C->G 5 482186 482186 C G snp 131.77 0/1 99 23 17 6 0.26 exonic rs9885312 SLC9A3 AR synonymous SNV NM_001284351 exon8 c.G1416C p.G472G 0.8123 0.5754 0.917359 0.8631 0.5850 Uncertain 5_482653_T->C 5 482653 482653 T C snp 859.77 0/1 99 62 30 32 0.52 intronic rs3777230 SLC9A3 AR NM_004174 exon11 c.9169-9T>C 0.802716 0.5873 0.902107 0.8527 0.5848 Uncertain 5_484498_G->A 5 484498 484498 G A snp 292.77 0/1 99 16 7 9 0.56 intronic rs149669616 SLC9A3 AR NM_004174 exon13 c.11141-136G>A Uncertain 5_485360_G->- 5 485360 485360 G - indel 1624.73 0/1 99 123 59 64 0.52 intronic rs3214559 SLC9A3 AR NM_004174 exon14 c.11853+14delG 0.052516 0.0585 0.032753 0.0249 0.0475 Uncertain 5_485362_G->T 5 485362 485362 G T snp 1167.77 0/1 99 108 59 49 0.45 intronic rs200041307 SLC9A3 AR NM_004174 exon14 c.11853+16G>T 0.052516 0.0585 0.0249 0.0475 Uncertain 5_485465_A->G 5 485465 485465 A G snp 52.77 0/1 81 10 7 3 0.3 intronic rs41282631 SLC9A3 AR NM_004174 exon14 c.11853+119A>G 0.121805 0.1419 Uncertain 5_488298_A->G 5 488298 488298 A G snp 618.77 0/1 99 48 29 19 0.4 intronic rs2303736 SLC9A3 AR NM_004174 exon15 c.14937-132A>G 0.796925 0.5744 Uncertain 5_488310_C->T 5 488310 488310 C T snp 908.77 0/1 99 70 41 29 0.41 intronic rs2303737 SLC9A3 AR NM_004174 exon15 c.14937-120C>T 0.41274 0.3929 Uncertain 5_491826_G->C 5 491826 491826 G C snp 1432.77 1/1 99 51 0 51 1.0 intronic rs11746373 SLC9A3 AR NM_004174 exon16 c.18390-57G>C 0.573682 0.5754 Uncertain 5_619022_C->T 5 619022 619022 C T snp 34.77 0/1 63 5 3 2 0.4 intronic rs1617985 CEP72 AU NM_018140 exon2 c.6628-82C>T 0.544728 0.3433 Uncertain 5_619333_T->C 5 619333 619333 T C snp 1665.77 0/1 99 147 78 69 0.47 intronic rs1709531 CEP72 AU NM_018140 exon2 c.6756+101T>C 0.547324 0.3442 Uncertain 5_633766_C->G 5 633766 633766 C G snp 1541.77 0/1 99 100 53 47 0.47 intronic rs2242441 CEP72 AU NM_018140 exon5 c.21407-117C>G 0.00678914 0.0327 Uncertain 5_634130_G->C 5 634130 634130 G C snp 95.77 0/1 99 9 5 4 0.44 intronic rs1709550 CEP72 AU NM_018140 exon5 c.21586+68G>C 0.282947 0.4683 Uncertain 5_635709_C->T 5 635709 635709 C T snp 438.77 0/1 99 34 17 17 0.5 intronic rs1697985 CEP72 AU NM_018140 exon6 c.23223+10C>T 0.282947 0.4683 0.246655 0.2460 0.4292 Uncertain 5_637514_C->T 5 637514 637514 C T snp 168.77 0/1 99 22 16 6 0.27 intronic rs1709553 CEP72 AU NM_018140 exon7 c.25155-117C>T 0.26897 0.4663 Uncertain 5_639089_G->A 5 639089 639089 G A snp 627.77 0/1 99 47 23 24 0.51 intronic rs1709552 CEP72 AU NM_018140 exon8 c.26727-114G>A 0.202276 0.4683 Uncertain 5_639455_C->G 5 639455 639455 C G snp 300.77 0/1 99 22 9 13 0.59 intronic rs1709551 CEP72 AU NM_018140 exon8 c.26863+116C>G 0.278554 0.4782 Uncertain 5_640705_A->G 5 640705 640705 A G snp 797.77 0/1 99 38 11 27 0.71 exonic rs868649 CEP72 AU nonsynonymous SNV NM_018140 exon9 c.A1525G p.T509A 0.26877 0.4683 0.217131 0.2456 0.4330 0.55 T 0.000 P -0.905 T 0.002 T 0.003 T Pathogenic 5_647816_T->A 5 647816 647816 T A snp 110.77 0/1 99 11 6 5 0.45 intronic rs1697976 CEP72 AU NM_018140 exon11 c.35443-103T>A 0.219848 0.4673 Uncertain 5_653343_T->C 5 653343 653343 T C snp 1622.77 0/1 99 131 59 72 0.55 UTR3 rs2458815 CEP72 AU 0.28115 0.4673 Uncertain 5_665280_T->C 5 665280 665280 T C snp 1394.77 0/1 99 136 71 65 0.48 exonic rs1697963 TPPP AU synonymous SNV NM_007030 exon4 c.A597G p.S199S 0.721446 0.6915 0.701753 0.6335 0.6664 Uncertain 5_666323_A->G 5 666323 666323 A G snp 1088.77 0/1 99 77 34 43 0.56 intronic rs1697964 TPPP AU NM_007030 exon2 c.1022+85A>G 0.718051 0.6925 Uncertain 5_677718_G->A 5 677718 677718 G A snp 289.77 0/1 99 19 10 9 0.47 intronic rs392088 TPPP AU NM_007030 exon3 c.12648-146G>A 0.75 0.6607 Uncertain 5_678062_A->G 5 678062 678062 A G snp 1463.77 0/1 99 115 65 50 0.43 exonic rs450628 TPPP AU synonymous SNV NM_007030 exon2 c.T114C p.A38A 0.754193 0.6647 0.735172 0.6676 0.6605 Uncertain 5_712035_G->A 5 712035 712035 G A snp 2472.77 1/1 99 119 19 100 0.84 intergenic rs111978121 TPPP AU 0.50599 0.5734 Uncertain 5_716759_G->A 5 716759 716759 G A snp 291.77 0/1 99 15 6 9 0.6 intergenic rs62332079 TPPP AU Uncertain 5_733917_G->T 5 733917 733917 G T snp 271.77 0/1 99 157 140 17 0.11 intergenic rs752085865 TPPP AU 0.0003 0.0009 0.45 T 1 N -0.989 T Uncertain 5_733926_A->G 5 733926 733926 A G snp 282.77 0/1 99 148 132 16 0.11 intergenic rs4342366 TPPP AU 3.358e-05 0.0001 0.55 T 1 N -0.992 T Uncertain 5_733948_C->T 5 733948 733948 C T snp 180.77 0/1 99 114 102 12 0.11 intergenic rs4429891 TPPP AU 0.0052 0.0386 Uncertain 5_741736_G->T 5 741736 741736 G T snp 2728.77 1/1 99 178 21 157 0.88 intergenic rs61128505 TPPP AU 0.904752 0.9702 0.8407 0.9642 0.29 T 0.000 P -1.022 T Uncertain 5_741779_G->A 5 741779 741779 G A snp 372.77 0/1 99 163 133 30 0.18 intergenic rs3855895 TPPP AU 0.0313498 0.1419 0.0160 0.2044 ID=COSN167405;OCCURENCE=1(large_intestine) Uncertain 5_741896_G->A 5 741896 741896 G A snp 219.77 0/1 99 30 21 9 0.3 intergenic rs149714758 TPPP AU 0.127396 0.1419 Uncertain 5_745275_A->T 5 745275 745275 A T snp 5685.77 1/1 99 250 0 250 1.0 intergenic rs436541 TPPP AU 0.857228 0.9673 0.5552 0.9492 Uncertain 5_745306_A->C 5 745306 745306 A C snp 619.77 0/1 99 250 205 45 0.18 intergenic rs172870 TPPP AU 0.4198 0.2584 0.53 T 0.0 P -0.940 T Uncertain 5_748207_T->G 5 748207 748207 T G snp 198.77 0/1 99 40 30 10 0.25 intergenic rs149856911 TPPP AU 0.0896565 0.13 Uncertain 5_748243_C->T 5 748243 748243 C T snp 896.77 0/1 99 90 55 35 0.39 intergenic rs57785304 TPPP AU 0.138578 0.1498 Uncertain 5_748477_A->C 5 748477 748477 A C snp 2815.77 1/1 99 111 0 111 1.0 intergenic rs3817066 TPPP AU 0.850839 0.9603 0.0767 0.3107 Uncertain 5_748482_G->C 5 748482 748482 G C snp 2910.77 1/1 99 119 2 117 0.98 intergenic rs3817065 TPPP AU 0.851438 0.9603 0.1183 0.5517 Uncertain 5_748494_C->T 5 748494 748494 C T snp 612.77 0/1 99 125 82 43 0.34 intergenic rs146590679 TPPP AU 0.0577077 0.0104 0 Uncertain 5_748594_T->C 5 748594 748594 T C snp 3417.77 0/1 99 250 97 153 0.61 intergenic rs3817064 TPPP AU 0.200879 0.2341 0.1518 0.3754 0.34 T 0.0 P -0.945 T Uncertain 5_748621_C->G 5 748621 748621 C G snp 3547.77 0/1 99 249 91 158 0.63 intergenic rs3817063 TPPP AU 0.198682 0.2341 0.1518 0.3737 0.64 T 0.0 P -0.987 T Uncertain 5_748737_T->C 5 748737 748737 T C snp 706.77 0/1 99 64 30 34 0.53 intergenic rs3817061 TPPP AU Uncertain 5_748753_T->G 5 748753 748753 T G snp 1221.77 1/1 90 43 0 43 1.0 intergenic rs3817060 TPPP AU 0.291334 0.374 Uncertain 5_748771_C->T 5 748771 748771 C T snp 129.77 0/1 99 27 16 11 0.41 intergenic rs3817059 TPPP AU 0.202676 0.2312 Uncertain 5_748776_A->G 5 748776 748776 A G snp 151.77 0/1 99 22 13 9 0.41 intergenic rs3817058 TPPP AU 0.202875 0.2312 Uncertain 5_751140_C->T 5 751140 751140 C T snp 80.77 0/1 53 8 3 5 0.63 intergenic rs372721590 TPPP AU 0.28155 0.2768 Uncertain 5_751191_G->A 5 751191 751191 G A snp 87.77 0/1 99 29 16 13 0.45 intergenic rs635008 TPPP AU 0.336262 0.4653 Uncertain 5_751229_G->T 5 751229 751229 G T snp 435.77 0/1 99 67 45 22 0.33 intergenic rs200795910 TPPP AU 0.248802 0.2063 0.2071 0.3329 Uncertain 5_751235_G->A 5 751235 751235 G A snp 414.77 0/1 99 75 48 27 0.36 intergenic rs71273552 TPPP AU 0.313498 0.2927 0.2117 0.3622 Uncertain 5_751256_C->A 5 751256 751256 C A snp 555.77 0/1 99 89 59 30 0.34 intergenic rs183666382 TPPP AU 0.254593 0.248 0.1308 0.2183 0.14 T 0.0 P -1.031 T Uncertain 5_751412_T->A 5 751412 751412 T A snp 67.77 0/1 96 27 21 6 0.22 intergenic rs550060002 TPPP AU 0.34385 0.4474 0.4250 0.4006 Uncertain 5_756226_C->T 5 756226 756226 C T snp 40.77 0/1 69 108 90 18 0.17 intergenic rs370921373 TPPP AU 0.0457 0.2245 0.47 T 1 N -1.096 T Uncertain 5_756307_T->C 5 756307 756307 T C snp 317.77 1/1 33 16 0 16 1.0 intergenic rs367198 TPPP AU 0.897764 0.9812 0.6887 0.9282 Uncertain 5_766910_C->T 5 766910 766910 C T snp 3186.77 0/1 99 250 126 124 0.5 intergenic rs1809933 TPPP AU 0.776558 0.8423 0.7515 0.8122 1 T 0.009 P -0.970 T Uncertain 5_766939_G->A 5 766939 766939 G A snp 3258.77 0/1 99 250 121 129 0.52 intergenic rs4957103 TPPP AU 0.2514 0.1789 Uncertain 5_767033_A->C 5 767033 767033 A C snp 2803.77 0/1 99 248 132 116 0.47 intergenic rs1809932 TPPP AU 0.778954 0.8433 0.7525 0.8125 0 D 1.0 P -1.072 T Uncertain 5_767202_T->C 5 767202 767202 T C snp 509.77 0/1 99 55 36 19 0.35 intergenic rs11134235 TPPP AU Uncertain 5_795933_C->G 5 795933 795933 C G snp 594.77 0/1 99 249 210 39 0.16 UTR3 rs1057011 ZDHHC11 AU 0.288139 0.3601 0.04 T 0.000 P -0.961 T Uncertain 5_795940_G->A 5 795940 795940 G A snp 1873.77 0/1 99 249 162 87 0.35 UTR3 rs200316029 ZDHHC11 AU Uncertain 5_795947_C->T 5 795947 795947 C T snp 350.77 0/1 99 249 220 29 0.12 UTR3 rs1057010 ZDHHC11 AU 0.288139 0.3601 1 T 0.996 P Uncertain 5_795954_C->G 5 795954 795954 C G snp 2078.77 0/1 99 249 160 89 0.36 UTR3 rs201303001 ZDHHC11 AU 0.04 T 1 N -0.975 T Uncertain 5_795992_C->A 5 795992 795992 C A snp 846.77 0/1 99 250 196 54 0.22 UTR3 rs1057005 ZDHHC11 AU 0.22 T 1.000 N -1.055 T Uncertain 5_796009_GCTCCCATTTCCCAGTACTGT->- 5 796009 796029 GCTCCCATTTCCCAGTACTGT - indel 6535.73 0/1 99 249 141 108 0.43 UTR3 rs199757139 ZDHHC11 AU Uncertain 5_796041_C->T 5 796041 796041 C T snp 1202.77 0/1 99 250 193 57 0.23 UTR3 rs144777213 ZDHHC11 AU Uncertain 5_796051_G->A 5 796051 796051 G A snp 680.77 0/1 99 250 209 41 0.16 UTR3 rs62330166 ZDHHC11 AU Uncertain 5_796064_T->C 5 796064 796064 T C snp 1248.77 0/1 99 250 189 61 0.24 UTR3 rs62330167 ZDHHC11 AU Uncertain 5_796144_C->T 5 796144 796144 C T snp 384.77 0/1 99 250 219 31 0.12 UTR3 rs201375117 ZDHHC11 AU Uncertain 5_796148_T->C 5 796148 796148 T C snp 274.77 0/1 99 250 217 33 0.13 UTR3 rs200115927 ZDHHC11 AU 1 T 1.000 N -1.046 T Uncertain 5_796152_T->C 5 796152 796152 T C snp 277.77 0/1 99 249 220 29 0.12 UTR3 rs71587128 ZDHHC11 AU 0.36 T 1.000 N -1.005 T Uncertain 5_796156_G->A 5 796156 796156 G A snp 282.77 0/1 99 250 222 28 0.11 UTR3 rs202009112 ZDHHC11 AU Uncertain 5_796165_C->T 5 796165 796165 C T snp 385.77 0/1 99 250 217 33 0.13 UTR3 rs200976854 ZDHHC11 AU Uncertain 5_796221_G->A 5 796221 796221 G A snp 343.77 0/1 99 249 217 32 0.13 UTR3 rs111848851 ZDHHC11 AU 0.78 T 0.999 D -1.091 T Uncertain 5_796229_A->G 5 796229 796229 A G snp 419.77 0/1 99 250 217 33 0.13 UTR3 rs200391461 ZDHHC11 AU 0.08 T 1.000 N -1.005 T Uncertain 5_796272_T->A 5 796272 796272 T A snp 273.77 0/1 99 250 211 39 0.16 UTR3 rs199930059 ZDHHC11 AU 0.7 T 1 N -1.012 T Uncertain 5_796277_T->C 5 796277 796277 T C snp 421.77 0/1 99 250 212 38 0.15 UTR3 rs386219 ZDHHC11 AU 1 N Uncertain 5_796297_C->T 5 796297 796297 C T snp 488.77 0/1 99 250 209 41 0.16 UTR3 rs365674 ZDHHC11 AU 0.999 N Uncertain 5_796328_T->C 5 796328 796328 T C snp 614.77 0/1 99 250 206 44 0.18 UTR3 rs605011 ZDHHC11 AU 0.07 T 0.999 D -0.707 T Uncertain 5_796333_G->A 5 796333 796333 G A snp 536.77 0/1 99 250 204 46 0.18 UTR3 rs610631 ZDHHC11 AU 0.01 T 1 D -0.619 T Uncertain 5_796352_A->G 5 796352 796352 A G snp 524.77 0/1 99 250 208 42 0.17 UTR3 rs201362497 ZDHHC11 AU 0.1 T 1 D -0.858 T Uncertain 5_796376_G->C 5 796376 796376 G C snp 449.77 0/1 99 248 211 37 0.15 UTR3 rs146534417 ZDHHC11 AU 0.121006 0.119 0 D 0.000 P -0.648 T Uncertain 5_796437_T->A 5 796437 796437 T A snp 161.77 0/1 99 244 200 44 0.18 UTR3 rs140929317 ZDHHC11 AU 0.73 T 1.000 N -1.029 T Uncertain 5_801172_C->T 5 801172 801172 C T snp 3431.77 0/1 99 250 125 125 0.5 intronic rs10462848 ZDHHC11 AU 0.258187 0.381 0.147145 0.1498 0.3842 Uncertain 5_801362_A->G 5 801362 801362 A G snp 1272.77 0/1 99 173 120 53 0.31 intronic rs3867415 ZDHHC11 AU NM_024786 exon2 c.58+83A>G 0.428115 0.4524 Uncertain 5_801446_A->G 5 801446 801446 A G snp 300.18 0/1 10 11 1 10 0.91 intronic rs4087954 ZDHHC11 AU NM_024786 exon2 c.58+167A>G 0.404153 0.4276 Uncertain 5_814733_A->C 5 814733 814733 A C snp 2279.77 0/1 99 85 18 67 0.79 intronic rs6879268 ZDHHC11 AU NM_024786 exon3 c.13654-142A>C 0.30651 0.3968 Uncertain 5_822109_C->A 5 822109 822109 C A snp 1024.77 0/1 99 51 16 35 0.69 intronic rs12655323 ZDHHC11 AU NM_024786 exon5 c.20789+99C>A 0.341653 0.4038 Uncertain 5_822123_A->T 5 822123 822123 A T snp 839.77 0/1 99 40 14 26 0.65 intronic rs12656150 ZDHHC11 AU NM_024786 exon5 c.20789+113A>T 0.341853 0.4038 Uncertain 5_823820_A->G 5 823820 823820 A G snp 1157.77 0/1 99 55 13 42 0.76 intronic rs2277058 ZDHHC11 AU NM_024786 exon6 c.24057-1458A>G 0.349641 0.4018 Uncertain 5_823890_A->T 5 823890 823890 A T snp 3005.77 0/1 99 166 34 132 0.8 intronic rs2277059 ZDHHC11 AU NM_024786 exon6 c.24057-1388A>T 0.35004 0.4038 Uncertain 5_824024_C->G 5 824024 824024 C G snp 2491.77 0/1 99 117 19 98 0.84 intronic rs111391863 ZDHHC11 AU NM_024786 exon6 c.24057-1254C>G 0.350639 0.4018 Uncertain 5_824025_A->G 5 824025 824025 A G snp 2497.77 0/1 99 116 19 97 0.84 intronic rs111707776 ZDHHC11 AU NM_024786 exon6 c.24057-1253A>G 0.350639 0.4018 Uncertain 5_824172_G->A 5 824172 824172 G A snp 489.77 0/1 99 128 104 24 0.19 intronic rs67757774 ZDHHC11 AU NM_024786 exon6 c.24057-1106G>A 0.0479233 0.1419 0.0158 0.1985 Uncertain 5_824190_G->A 5 824190 824190 G A snp 708.77 0/1 99 169 134 35 0.21 intronic rs67828407 ZDHHC11 AU NM_024786 exon6 c.24057-1088G>A 0.0471246 0.1399 0.0162 0.2029 Uncertain 5_824291_C->A 5 824291 824291 C A snp 4203.77 0/1 99 245 71 174 0.71 intronic rs67912577 ZDHHC11 AU NM_024786 exon6 c.24057-987C>A 0.352436 0.3998 Uncertain 5_824412_-->AAATAAA 5 824412 824412 - AAATAAA indel 1119.73 0/1 99 41 7 34 0.83 intronic rs151045780 ZDHHC11 AU NM_024786 exon6 c.24057-866insAAATAAA 0.346446 0.3968 Uncertain 5_825160_A->C 5 825160 825160 A C snp 4332.77 0/1 99 197 50 147 0.75 intronic rs1807037 ZDHHC11 AU NM_024786 exon6 c.24057-118A>C 0.444688 0.4107 Uncertain 5_825245_A->T 5 825245 825245 A T snp 228.77 0/1 99 250 225 25 0.1 intronic rs1814341 ZDHHC11 AU NM_024786 exon6 c.24057-33A>T 0.0007 0 Uncertain 5_825250_G->A 5 825250 825250 G A snp 147.77 0/1 99 249 226 23 0.09 intronic rs2335587 ZDHHC11 AU NM_024786 exon6 c.24057-28G>A 0.0007 0 Uncertain 5_825280_C->T 5 825280 825280 C T snp 6117.77 0/1 99 250 59 191 0.76 exonic rs1809008 ZDHHC11 AU nonsynonymous SNV NM_024786 exon8 c.G1022A p.R341Q 0.374201 0.4127 0.248999 0.2223 0.4232 0.67 T 0.0 P -0.941 T 0.001 T 0.0 T Pathogenic 5_825286_G->T 5 825286 825286 G T snp 199.77 0/1 99 250 223 27 0.11 exonic rs2335585 ZDHHC11 AU nonsynonymous SNV NM_024786 exon8 c.C1016A p.T339K 0.013310 0.0613 0.0646 0.92 T 1 N -0.973 T 0.0 T 0.0 T Pathogenic 5_825297_A->G 5 825297 825297 A G snp 180.77 0/1 99 249 222 27 0.11 exonic rs1808545 ZDHHC11 AU synonymous SNV NM_024786 exon8 c.T1005C p.D335D 0.0765 0.1077 Uncertain 5_825379_A->G 5 825379 825379 A G snp 1187.77 0/1 99 209 155 54 0.26 intronic rs149501386 ZDHHC11 AU NM_024786 exon6 c.24145+13A>G 0.0565096 0.1081 0.011617 0.0207 0.1159 Uncertain 5_825410_A->G 5 825410 825410 A G snp 1035.77 0/1 99 178 131 47 0.26 intronic rs752028065 ZDHHC11 AU NM_024786 exon6 c.24145+44A>G 0.0051 0.0089 Uncertain 5_825416_A->G 5 825416 825416 A G snp 1015.77 0/1 99 171 125 46 0.27 intronic rs2335581 ZDHHC11 AU NM_024786 exon6 c.24145+50A>G 0.0039 0.0058 Uncertain 5_825445_G->A 5 825445 825445 G A snp 1145.77 0/1 99 86 49 37 0.43 intronic rs28501411 ZDHHC11 AU NM_024786 exon6 c.24145+79G>A Uncertain 5_834075_G->A 5 834075 834075 G A snp 264.77 0/1 99 22 12 10 0.45 intronic rs1260864 ZDHHC11 AU NM_024786 exon7 c.32701+153G>A Uncertain 5_840506_C->T 5 840506 840506 C T snp 3956.77 0/1 99 250 64 186 0.74 intronic rs7701283 ZDHHC11 AU NM_024786 exon9 c.39388-103C>T 0.5241 0.5704 Uncertain 5_840644_G->C 5 840644 840644 G C snp 116.77 0/1 99 250 218 32 0.13 exonic rs200038670 ZDHHC11 AU nonsynonymous SNV NM_024786 exon5 c.C750G p.H250Q 0.0014 0.0024 0.29 T 1 N -1.007 T 0.001 T 0.014 T Pathogenic 5_840785_C->A 5 840785 840785 C A snp 170.77 0/1 99 197 168 29 0.15 intronic rs200106329 ZDHHC11 AU NM_024786 exon9 c.39544+20C>A 0.004152 0.0185 0.0439 Uncertain 5_840888_T->C 5 840888 840888 T C snp 65.77 0/1 94 11 8 3 0.27 intronic rs57285777 ZDHHC11 AU NM_024786 exon9 c.39544+123T>C Uncertain 5_843658_A->G 5 843658 843658 A G snp 209.84 0/1 18 26 14 12 0.46 intronic rs549174273 ZDHHC11 AU NM_024786 exon10 c.42493-56A>G Uncertain 5_843690_C->T 5 843690 843690 C T snp 240.77 0/1 99 45 30 15 0.33 intronic rs767327107 ZDHHC11 AU NM_024786 exon10 c.42493-24C>T 0.0026 0.0341 Uncertain 5_843696_G->T 5 843696 843696 G T snp 192.77 0/1 99 49 36 13 0.27 intronic rs143771442 ZDHHC11 AU NM_024786 exon10 c.42493-18G>T 0.161142 0.0794 0.1232 0.1081 Uncertain 5_843702_G->A 5 843702 843702 G A snp 650.28 1/1 9 55 20 35 0.64 intronic rs3863147 ZDHHC11 AU NM_024786 exon10 c.42493-12G>A 0.319888 0.3075 0.3043 0.2877 Uncertain 5_843723_C->A 5 843723 843723 C A snp 308.77 0/1 99 57 39 18 0.32 exonic rs3863148 ZDHHC11 AU nonsynonymous SNV NM_024786 exon4 c.G620T p.R207M 0.3001 0.2653 0.2 T 0.0 P -0.935 T 0.001 T 0.01 T Pathogenic 5_843766_C->T 5 843766 843766 C T snp 472.77 0/1 99 71 42 29 0.41 exonic rs76685897 ZDHHC11 AU nonsynonymous SNV NM_024786 exon4 c.G577A p.V193I 0.0796725 0.128 0.0307 0.1343 1 T 1 N -1.051 T 0.085 T 0.131 T ID=COSM4006074,COSM4006075;OCCURENCE=1(urinary_tract) Pathogenic 5_843815_C->T 5 843815 843815 C T snp 826.77 1/1 63 50 11 39 0.78 exonic rs71591190 ZDHHC11 AU synonymous SNV NM_024786 exon4 c.G528A p.S176S 0.2454 0.2985 Uncertain 5_850473_C->A 5 850473 850473 C A snp 972.77 0/1 99 72 29 43 0.6 intronic rs72491326 ZDHHC11 AU NM_024786 exon13 c.49274-22C>A 0.140974 0.1528 0.105215 0.0551 0.1847 Uncertain 5_850770_C->T 5 850770 850770 C T snp 54.74 1/1 6 2 0 2 1.0 UTR5 rs113987061 ZDHHC11 AU 0.181909 0.1528 Uncertain 5_878427_C->G 5 878427 878427 C G snp 143.77 0/1 99 176 160 16 0.09 intronic rs777723817 BRD9 AU NM_023924 exon6 c.13887-42C>G 0.0406 0.1178 Uncertain 5_878434_C->G 5 878434 878434 C G snp 350.77 0/1 99 195 171 24 0.12 intronic rs111758433 BRD9 AU NM_023924 exon6 c.13887-35C>G 0.0483 0.1496 Uncertain 5_878525_T->A 5 878525 878525 T A snp 856.77 0/1 99 177 123 54 0.31 exonic rs508016 BRD9 AU nonsynonymous SNV NM_001009877 exon11 c.A1057T p.M353L 0.3751 0.4441 0.08 T 0.999 N -1.033 T 0.163 T 0.046 T Pathogenic 5_895112_A->- 5 895112 895112 A - indel 199.73 0/1 99 30 18 12 0.4 intronic rs66843001 TRIP13 AU NM_001166260 exon2 c.1954+45delA 0.408147 0.3423 0.331017 0.2073 0.3544 Uncertain 5_896983_A->G 5 896983 896983 A G snp 313.77 0/1 99 30 19 11 0.37 intronic rs920980 TRIP13 AU NM_001166260 exon3 c.3796+74A>G 0.408347 0.3423 Uncertain 5_917106_G->C 5 917106 917106 G C snp 806.77 0/1 99 76 38 38 0.5 intronic rs58876062 TRIP13 AU NM_004237 exon13 c.24009-16G>C 0.0938498 0.1548 0.056589 0.0333 0.1606 Uncertain 5_981019_T->C 5 981019 981019 T C snp 252.77 0/1 99 31 21 10 0.32 intergenic rs10065177 TRIP13 AU 0.504792 0.6478 Uncertain 5_981277_C->G 5 981277 981277 C G snp 627.77 0/1 99 53 26 27 0.51 intergenic TRIP13 AU Uncertain 5_1009425_A->G 5 1009425 1009425 A G snp 306.78 1/1 24 11 0 11 1.0 intronic rs10060716 NKD2 AU NM_001271082 exon2 c.157+96A>G 0.922724 0.999 Uncertain 5_1034246_A->T 5 1034246 1034246 A T snp 214.84 1/1 18 6 0 6 1.0 intronic rs4975576 NKD2 AU NM_001271082 exon6 c.25177-103A>T 0.38778 0.4653 Uncertain 5_1035399_-->AATG 5 1035399 1035399 - AATG indel 2340.73 1/1 99 38 0 38 1.0 intronic rs147352169 NKD2 AU NM_001271082 exon8 c.26331-104insAATG 0.698682 0.7877 Uncertain 5_1035482_A->G 5 1035482 1035482 A G snp 2214.77 1/1 99 80 0 80 1.0 intronic rs12657514 NKD2 AU NM_001271082 exon8 c.26331-21A>G 0.930511 1 0.930666 0.9725 1 Uncertain 5_1036900_C->T 5 1036900 1036900 C T snp 1377.77 1/1 99 54 0 54 1.0 intronic rs34309815 NKD2 AU NM_001271082 exon9 c.27327+401C>T 0.385184 0.4583 0.4466 0.4342 Uncertain 5_1036962_C->A 5 1036962 1036962 C A snp 980.77 1/1 72 38 0 38 1.0 intronic rs34413936 NKD2 AU NM_001271082 exon9 c.27327+463C>A 0.516174 0.6548 0.5166 0.6261 0 D 1.000 P Uncertain 5_1038526_A->G 5 1038526 1038526 A G snp 1626.77 1/1 99 58 0 58 1.0 UTR3 rs3889678 NKD2 AU 0.900958 1 0.912940 0.9831 1 Uncertain 5_1052360_C->T 5 1052360 1052360 C T snp 1679.77 1/1 99 66 0 66 1.0 UTR3 rs3810854 SLC12A7 AU 0.567891 0.6399 0.5747 0.6565 0.11 T 0.0 P -0.954 T Uncertain 5_1052736_GAGCA->- 5 1052736 1052740 GAGCA - indel 943.73 1/1 36 12 0 12 1.0 intronic rs4046186 SLC12A7 AU NM_006598 exon1 c.92+170_92+174delGAGCA 0.361821 0.499 Uncertain 5_1057615_A->G 5 1057615 1057615 A G snp 2061.77 0/1 99 195 106 89 0.46 exonic rs2241606 SLC12A7 AU synonymous SNV NM_006598 exon22 c.T2997C p.S999S 0.493011 0.4772 0.534830 0.6137 0.5096 Uncertain 5_1057782_T->C 5 1057782 1057782 T C snp 1185.77 1/1 87 33 0 33 1.0 intronic rs12108965 SLC12A7 AU NM_006598 exon3 c.5290+18T>C 0.930312 1 0.926186 0.9800 1 Uncertain 5_1060366_C->G 5 1060366 1060366 C G snp 222.84 1/1 18 7 0 7 1.0 intronic rs4975699 SLC12A7 AU NM_006598 exon4 c.7984-92C>G 0.752995 0.9524 Uncertain 5_1060400_G->A 5 1060400 1060400 G A snp 675.77 1/1 51 19 0 19 1.0 intronic rs4975568 SLC12A7 AU NM_006598 exon4 c.7984-58G>A 0.928315 1 Uncertain 5_1060634_C->T 5 1060634 1060634 C T snp 3435.77 1/1 99 128 0 128 1.0 intronic rs4246750 SLC12A7 AU NM_006598 exon4 c.8092+68C>T 0.754193 0.9524 Uncertain 5_1060654_G->A 5 1060654 1060654 G A snp 2811.77 1/1 99 104 0 104 1.0 intronic rs4246749 SLC12A7 AU NM_006598 exon4 c.8092+88G>A 0.930112 1 Uncertain 5_1060685_G->A 5 1060685 1060685 G A snp 2067.77 1/1 99 67 0 67 1.0 intronic rs2241608 SLC12A7 AU NM_006598 exon4 c.8092+119G>A 0.411741 0.5952 Uncertain 5_1062796_CTGGGGGGCTGGGGGACTGAGGGA->- 5 1062796 1062819 CTGGGGGGCTGGGGGACTGAGGGA - indel 832.77 1/1 21 7 0 7 1.0 intronic rs67263312 SLC12A7 AU NM_006598 exon5 c.11484-1162_11484-1139delCTGGGGGGCTGGGGGACTGAGGGA Uncertain 5_1063187_T->C 5 1063187 1063187 T C snp 141.03 1/1 12 4 0 4 1.0 intronic rs6863419 SLC12A7 AU NM_006598 exon5 c.11484-771T>C 0.925719 1 Uncertain 5_1065290_A->G 5 1065290 1065290 A G snp 1499.77 1/1 99 46 0 46 1.0 intronic rs4362981 SLC12A7 AU NM_006598 exon7 c.12923-107A>G 0.9375 1 Uncertain 5_1065299_AGGGGACACTGAGGAGACACAC->- 5 1065299 1065320 AGGGGACACTGAGGAGACACAC - indel 11237.7 1/1 99 51 0 51 1.0 intronic rs55643147 SLC12A7 AU NM_006598 exon7 c.12923-98_12923-77delAGGGGACACTGAGGAGACACAC Uncertain 5_1065399_C->T 5 1065399 1065399 C T snp 5180.77 1/1 99 200 0 200 1.0 exonic rs737154 SLC12A7 AU synonymous SNV NM_006598 exon18 c.G2436A p.V812V 0.554513 0.627 0.507458 0.5332 0.6237 1.000 P -0.980 T Likely benign 5_1065683_A->C 5 1065683 1065683 A C snp 1181.77 1/1 87 37 0 37 1.0 intronic rs56078134 SLC12A7 AU NM_006598 exon7 c.13119+90A>C 0.540935 0.628 Uncertain 5_1065689_C->T 5 1065689 1065689 C T snp 1098.77 1/1 81 35 0 35 1.0 intronic rs13186367 SLC12A7 AU NM_006598 exon7 c.13119+96C>T 0.905152 1 Uncertain 5_1073689_C->T 5 1073689 1073689 C T snp 862.77 1/1 63 26 0 26 1.0 intronic rs10780095 SLC12A7 AU NM_006598 exon8 c.21273-58C>T 0.645767 0.8581 Uncertain 5_1074560_A->C 5 1074560 1074560 A C snp 2688.77 1/1 99 100 0 100 1.0 intronic rs12523242 SLC12A7 AU NM_006598 exon9 c.22207-121A>C Uncertain 5_1074818_C->T 5 1074818 1074818 C T snp 685.77 0/1 99 80 49 31 0.39 intronic rs41280366 SLC12A7 AU NM_006598 exon9 c.22312+32C>T 0.11222 0.1607 0.079544 0.1532 0.2179 0.0 P -1.086 T Uncertain 5_1074921_G->A 5 1074921 1074921 G A snp 267.8 1/1 21 8 0 8 1.0 intronic rs7714914 SLC12A7 AU NM_006598 exon9 c.22312+135G>A 0.548722 0.7133 Uncertain 5_1076129_T->C 5 1076129 1076129 T C snp 220.84 1/1 18 6 0 6 1.0 intronic rs6866735 SLC12A7 AU NM_006598 exon11 c.23778-123T>C 0.938498 1 Uncertain 5_1076459_G->T 5 1076459 1076459 G T snp 2765.77 1/1 99 109 0 109 1.0 intronic rs11952124 SLC12A7 AU NM_006598 exon11 c.23877+108G>T 0.700679 0.9196 Uncertain 5_1076520_CAGGTTCCAGC->- 5 1076520 1076530 CAGGTTCCAGC - indel 3195.79 1/1 69 37 0 37 1.0 intronic rs111668454 SLC12A7 AU NM_006598 exon11 c.23877+169_23877+179delCAGGTTCCAGC Uncertain 5_1078687_A->G 5 1078687 1078687 A G snp 573.77 0/1 99 43 22 21 0.49 intronic rs117742321 SLC12A7 AU NM_006598 exon14 c.26341-128A>G 0.00638978 0.0308 Uncertain 5_1078898_A->G 5 1078898 1078898 A G snp 1851.77 1/1 99 59 0 59 1.0 intronic rs4975564 SLC12A7 AU NM_006598 exon14 c.26399+25A>G 0.769768 0.9395 0.778103 0.8891 0.9328 Uncertain 5_1081767_C->T 5 1081767 1081767 C T snp 5322.77 1/1 99 208 0 208 1.0 exonic rs4526148 SLC12A7 AU nonsynonymous SNV NM_006598 exon9 c.G1222A p.A408T 0.530351 0.6677 0.455790 0.5291 0.6743 0.76 T 0.0 P -0.943 T 0.0 T 0.0 T Pathogenic 5_1085604_C->A 5 1085604 1085604 C A snp 3153.77 1/1 99 110 0 110 1.0 intronic rs11133624 SLC12A7 AU NM_006598 exon18 c.33114+16C>A 0.456669 0.628 0.374536 0.5265 0.6538 Uncertain 5_1093609_-->GGGCGGGGACT 5 1093609 1093609 - GGGCGGGGACT indel 4657.73 1/1 99 36 0 36 1.0 intronic rs56276350 SLC12A7 AU NM_006598 exon22 c.41173-38insGGGCGGGGACT 0.842851 0.9871 0.809106 0.9220 0.9963 Uncertain 5_1093860_C->G 5 1093860 1093860 C G snp 950.77 1/1 69 28 0 28 1.0 intronic rs6883411 SLC12A7 AU NM_006598 exon22 c.41296+90C>G 0.595447 0.7808 Uncertain 5_1093861_C->T 5 1093861 1093861 C T snp 911.77 1/1 69 28 0 28 1.0 intronic rs6883412 SLC12A7 AU NM_006598 exon22 c.41296+91C>T 0.595447 0.7808 Uncertain 5_1209063_A->T 5 1209063 1209063 A T snp 148.77 0/1 99 11 5 6 0.55 intronic rs72709422 SLC6A19 AR,AD NM_001003841 exon2 c.7236+62A>T 0.323283 0.2857 Uncertain 5_1212647_C->T 5 1212647 1212647 C T snp 528.77 0/1 99 23 7 16 0.7 intronic rs13180809 SLC6A19 AR,AD NM_001003841 exon4 c.10834+48C>T 0.316094 0.2847 0.394550 0.4174 0.3092 Uncertain 5_1213510_C->T 5 1213510 1213510 C T snp 83.77 0/1 63 7 3 4 0.57 intronic rs77928413 SLC6A19 AR,AD NM_001003841 exon5 c.11812-67C>T 0.341653 0.2579 Uncertain 5_1214006_CCT->- 5 1214006 1214008 CCT - indel 855.73 0/1 99 26 10 16 0.62 intronic rs138649942 SLC6A19 AR,AD NM_001003841 exon6 c.12302-61_12302-59delCCT 0.332867 0.2579 Uncertain 5_1214264_A->G 5 1214264 1214264 A G snp 1577.77 0/1 99 120 58 62 0.52 intronic rs6554663 SLC6A19 AR,AD NM_001003841 exon6 c.12415+84A>G 0.74381 0.5595 Uncertain 5_1216775_A->G 5 1216775 1216775 A G snp 3637.77 0/1 99 250 113 137 0.55 exonic rs4975629 SLC6A19 AR,AD synonymous SNV NM_001003841 exon7 c.A990G p.T330T 0.840056 0.6825 0.927264 0.9028 0.6955 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000118392.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 5_1216900_G->A 5 1216900 1216900 G A snp 7201.77 1/1 99 250 2 248 0.99 splicing rs35329108 SLC6A19 AR,AD NM_001003841 exon8 c.15138-3G>A 0.21905 0.1468 0.264032 0.2176 0.1414 ID=CS086104;DIS=Iminoglycinuria, association with;TAG=DP;PUB=19033659 DP Pathogenic 5_1219316_C->T 5 1219316 1219316 C T snp 463.77 1/1 36 13 0 13 1.0 intronic rs6554668 SLC6A19 AR,AD NM_001003841 exon9 c.17457+94C>T 0.840056 0.5933 Uncertain 5_1219859_C->T 5 1219859 1219859 C T snp 1245.77 0/1 99 83 37 46 0.55 intronic rs11746371 SLC6A19 AR,AD NM_001003841 exon10 c.18014+80C>T 0.325879 0.2173 Uncertain 5_1219874_G->A 5 1219874 1219874 G A snp 2051.77 1/1 99 65 0 65 1.0 intronic rs6869718 SLC6A19 AR,AD NM_001003841 exon10 c.18014+95G>A 0.803914 0.5962 Uncertain 5_1221199_T->C 5 1221199 1221199 T C snp 2830.77 1/1 99 96 0 96 1.0 intronic rs12513763 SLC6A19 AR,AD NM_001003841 exon11 c.19500-66T>C 0.842851 0.5982 Uncertain 5_1225564_T->C 5 1225564 1225564 T C snp 85.77 0/1 69 6 2 4 0.67 UTR5 rs7728646 SLC6A18 AU 0.732428 0.5575 0.784108 0.7587 0.5893 Uncertain 5_1225613_G->A 5 1225613 1225613 G A snp 366.77 0/1 99 22 10 12 0.55 exonic rs7704058 SLC6A18 AU synonymous SNV NM_182632 exon1 c.G21A p.P7P 0.740815 0.5595 0.793711 0.7657 0.5904 Uncertain 5_1225626_T->A 5 1225626 1225626 T A snp 626.77 0/1 99 42 18 24 0.57 exonic rs7728667 SLC6A18 AU nonsynonymous SNV NM_182632 exon1 c.T34A p.C12S 0.740415 0.5575 0.793941 0.7651 0.5893 0.32 T 0.0 P -1.001 T 0.0 T 0.0 T Pathogenic 5_1225687_C->T 5 1225687 1225687 C T snp 2596.77 1/1 99 99 0 99 1.0 exonic rs7705355 SLC6A18 AU nonsynonymous SNV NM_182632 exon1 c.C95T p.T32I 0.822883 0.5972 0.867830 0.8992 0.6243 0.73 T 0.0 P -0.939 T 0.0 T 0.0 T Pathogenic 5_1225688_T->C 5 1225688 1225688 T C snp 1212.77 0/1 99 100 48 52 0.52 exonic rs7728814 SLC6A18 AU synonymous SNV NM_182632 exon1 c.T96C p.T32T 0.683506 0.5575 0.585115 0.7428 0.5889 Uncertain 5_1225703_A->G 5 1225703 1225703 A G snp 3198.81 1/1 99 127 0 127 1.0 exonic rs7724858 SLC6A18 AU synonymous SNV NM_182632 exon1 c.A111G p.G37G 0.822883 0.5972 0.930109 0.8993 0.6266 Uncertain 5_1225801_G->A 5 1225801 1225801 G A snp 1021.77 0/1 99 84 39 45 0.54 intronic rs7704363 SLC6A18 AU NM_182632 exon1 c.160+49G>A 0.378195 0.2222 0.415193 0.4045 0.2297 Uncertain 5_1232240_C->T 5 1232240 1232240 C T snp 231.77 0/1 99 14 6 8 0.57 intronic rs7379178 SLC6A18 AU NM_182632 exon2 c.6741-93C>T 0.359625 0.2738 Uncertain 5_1232491_G->C 5 1232491 1232491 G C snp 739.77 1/1 54 29 0 29 1.0 intronic rs4975623 SLC6A18 AU NM_182632 exon2 c.6882+17G>C 0.827875 0.5853 0.929792 0.8851 0.6330 Uncertain 5_1232666_A->C 5 1232666 1232666 A C snp 43.77 0/1 70 4 2 2 0.5 intronic rs4975622 SLC6A18 AU NM_182632 exon2 c.6882+192A>C 0.664337 0.5585 Uncertain 5_1232775_T->A 5 1232775 1232775 T A snp 451.77 0/1 99 38 18 20 0.53 intronic rs6858999 SLC6A18 AU NM_182632 exon3 c.7273-90T>A 0.362819 0.2183 Uncertain 5_1243009_A->G 5 1243009 1243009 A G snp 2483.77 1/1 99 66 0 66 1.0 intronic rs7721679 SLC6A18 AU NM_182632 exon8 c.17386+31A>G 0.941094 0.9821 0.900415 0.8938 0.9849 Uncertain 5_1271524_T->C 5 1271524 1271524 T C snp 467.77 1/1 36 12 0 12 1.0 intronic rs11133719 TERT AR,AD,AU NM_001193376 exon8 c.17477+205T>C 0.859225 0.9028 Uncertain 5_1280128_T->C 5 1280128 1280128 T C snp 332.78 1/1 27 9 0 9 1.0 intronic rs7734992 TERT AR,AD,AU NM_001193376 exon12 c.26430-144T>C 0.488818 0.3988 Uncertain 5_1280477_G->A 5 1280477 1280477 G A snp 400.77 0/1 99 26 13 13 0.5 intronic rs13167280 TERT AR,AD,AU NM_001193376 exon12 c.26611+24G>A 0.111422 0.2143 0.100723 0.1324 0.2148 Uncertain 5_1282414_G->A 5 1282414 1282414 G A snp 204.84 1/1 18 6 0 6 1.0 intronic rs7725218 TERT AR,AD,AU NM_001193376 exon13 c.28701-129G>A 0.408347 0.3819 Uncertain 5_1294086_C->T 5 1294086 1294086 C T snp 2322.77 0/1 99 181 80 101 0.56 exonic rs2736098 TERT AR,AD,AU synonymous SNV NM_198253 exon2 c.G915A p.A305A 0.265575 0.371 0.207532 0.4045 0.5009 CLINSIG=non-pathogenic|untested|non-pathogenic;CLNDBN=Dyskeratosis_congenita_autosomal_dominant|Aplastic_anemia|not_specified;CLNREVSTAT=no_assertion_criteria_provided|no_assertion_provided|criteria_provided\x2c_single_submitter;CLNACC=RCV000032400.1|RCV000144244.1|RCV000151999.1;CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet|GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT|MedGen;CLNDSDBID=NBK22301:C1851970:127550:ORPHA1775|NBK22301:C0002874:609135:ORPHA88:306058006|CN169374 ID=COSM3760904;OCCURENCE=3(large_intestine) Uncertain 5_1320722_C->T 5 1320722 1320722 C T snp 289.77 0/1 99 36 22 14 0.39 intronic rs402710 CLPTM1L AU NM_030782 exon2 c.2247-8C>T 0.335863 0.3095 0.362963 0.3461 0.3312 Uncertain 5_1323196_T->C 5 1323196 1323196 T C snp 139.03 1/1 12 4 0 4 1.0 intronic rs410805 CLPTM1L AU NM_030782 exon5 c.4543+170T>C 0.810903 0.6796 Uncertain 5_1325767_A->G 5 1325767 1325767 A G snp 448.77 0/1 99 46 31 15 0.33 intronic rs466502 CLPTM1L AU NM_030782 exon8 c.7382-98A>G Uncertain 5_1325803_A->G 5 1325803 1325803 A G snp 989.77 0/1 99 86 45 41 0.48 intronic rs465498 CLPTM1L AU NM_030782 exon8 c.7382-62A>G 0.363019 0.1944 0.472843 Uncertain 5_1330253_T->C 5 1330253 1330253 T C snp 1103.77 0/1 99 79 38 41 0.52 intronic rs452932 CLPTM1L AU NM_030782 exon9 c.11911-141T>C 0.367013 0.1905 Uncertain 5_1334508_A->- 5 1334508 1334508 A - indel 1711.73 0/1 99 116 40 76 0.66 intronic rs397768407 CLPTM1L AU NM_030782 exon11 c.16015+10delA 0.632188 0.8105 0.6258 0.8189 Uncertain 5_1335386_TG->- 5 1335386 1335387 TG - indel 2542.73 0/1 99 120 49 71 0.59 intronic rs3030832 CLPTM1L AU NM_030782 exon12 c.16806+97_16806+98delTG 0.101238 0.131 Uncertain 5_1337906_A->T 5 1337906 1337906 A T snp 153.77 0/1 63 7 2 5 0.71 intronic rs31484 CLPTM1L AU NM_030782 exon13 c.19535-112A>T 0.413139 0.1895 Uncertain 5_1344458_G->A 5 1344458 1344458 G A snp 2965.77 0/1 99 249 131 118 0.47 intronic rs31490 CLPTM1L AU NM_030782 exon16 c.25982-7G>A 0.336661 0.1885 0.452553 0.3785 0.1900 Uncertain 5_1409127_T->C 5 1409127 1409127 T C snp 2686.77 1/1 99 98 0 98 1.0 intronic rs429699 SLC6A3 AR,AU NM_001044 exon5 c.14291-13T>C 0.936701 0.7679 0.996692 0.9639 0.7493 Uncertain 5_1416142_C->A 5 1416142 1416142 C A snp 6782.77 1/1 99 248 0 248 1.0 intronic rs40358 SLC6A3 AR,AU NM_001044 exon9 c.21363-70C>A 0.748203 0.6091 Uncertain 5_1432825_G->T 5 1432825 1432825 G T snp 2902.77 1/1 99 104 0 104 1.0 intronic rs460000 SLC6A3 AR,AU NM_001044 exon12 c.37964+12G>T 0.420327 0.5258 0.286868 0.3190 0.5334 Uncertain 5_1432876_G->A 5 1432876 1432876 G A snp 1661.77 1/1 99 52 0 52 1.0 intronic rs465130 SLC6A3 AR,AU NM_001044 exon12 c.37964+63G>A 0.416134 0.5278 Uncertain 5_1432881_C->T 5 1432881 1432881 C T snp 1443.77 1/1 99 46 0 46 1.0 intronic rs465989 SLC6A3 AR,AU NM_001044 exon12 c.37964+68C>T 0.375799 0.5258 Uncertain 5_1464028_C->T 5 1464028 1464028 C T snp 1992.77 1/1 99 73 0 73 1.0 intronic rs6876662 LPCAT1 AU NM_024830 exon1 c.185+78C>T 0.624002 0.5774 Uncertain 5_1466686_G->C 5 1466686 1466686 G C snp 495.77 1/1 39 13 0 13 1.0 intronic rs2277008 LPCAT1 AU NM_024830 exon2 c.3098-177G>C 0.710463 0.5843 Uncertain 5_1466813_T->C 5 1466813 1466813 T C snp 5620.77 1/1 99 188 0 188 1.0 intronic rs2277007 LPCAT1 AU NM_024830 exon2 c.3098-50T>C 0.701478 0.5942 0.697708 0.7212 0.6105 Uncertain 5_1466919_G->A 5 1466919 1466919 G A snp 3264.77 0/1 99 244 121 123 0.5 exonic rs2277006 LPCAT1 AU synonymous SNV NM_024830 exon13 c.C1365T p.T455T 0.271721 0.2816 0.4555 Uncertain 5_1467004_A->G 5 1467004 1467004 A G snp 1867.77 0/1 99 147 71 76 0.52 exonic rs35452723 LPCAT1 AU nonsynonymous SNV NM_024830 exon13 c.T1280C p.M427T 0.165535 0.1319 0.198831 0.2355 0.1318 0.11 T 1.000 P -1.068 T 0.063 T 0.028 T Pathogenic 5_1471109_T->C 5 1471109 1471109 T C snp 647.77 0/1 99 54 27 27 0.5 intronic rs27054 LPCAT1 AU NM_024830 exon3 c.7274+70T>C 0.829273 0.8681 Uncertain 5_1473977_A->G 5 1473977 1473977 A G snp 149.77 0/1 99 10 5 5 0.5 intronic rs27056 LPCAT1 AU NM_024830 exon4 c.10306-94A>G 0.833067 0.8681 Uncertain 5_1479678_G->C 5 1479678 1479678 G C snp 982.77 0/1 99 86 47 39 0.45 intronic rs27059 LPCAT1 AU NM_024830 exon7 c.15970-57G>C 0.807308 0.8661 0.769601 Uncertain 5_1489706_A->G 5 1489706 1489706 A G snp 192.77 0/1 99 10 4 6 0.6 intronic rs2277003 LPCAT1 AU NM_024830 exon11 c.26095-154A>G 0.560104 0.4772 Uncertain 5_1490124_A->C 5 1490124 1490124 A C snp 144.77 0/1 99 14 9 5 0.36 intronic rs10475025 LPCAT1 AU NM_024830 exon11 c.26208+151A>C 0.539337 0.4484 Uncertain 5_1494909_C->T 5 1494909 1494909 C T snp 2582.77 0/1 99 245 136 109 0.44 exonic rs3733796 LPCAT1 AU synonymous SNV NM_024830 exon3 c.G399A p.A133A 0.297524 0.4028 0.221129 0.2370 0.4121 Uncertain 5_1501790_T->C 5 1501790 1501790 T C snp 708.77 0/1 99 50 23 27 0.54 intronic rs1979396 LPCAT1 AU NM_024830 exon13 c.37953+72T>C 0.478634 0.4514 Uncertain 5_1594664_C->G 5 1594664 1594664 C G snp 219.84 1/1 18 11 0 11 1.0 upstream rs4246747 SDHAP3 AU 0.775958 0.7629 Uncertain 5_1708869_G->T 5 1708869 1708869 G T snp 6033.77 1/1 99 225 0 225 1.0 downstream rs115642832 MIR4277 AU 0.077476 0.1339 0.0485 0.1212 Uncertain 5_1708983_G->A 5 1708983 1708983 G A snp 3773.77 1/1 99 137 1 136 0.99 ncRNA_exonic rs12523324 MIR4277 AU 0.620607 0.5982 0.6631 0.6286 Uncertain 5_1878021_G->A 5 1878021 1878021 G A snp 83.28 1/1 9 3 0 3 1.0 UTR3 rs2279588 IRX4 AU 0.281949 0.3224 Uncertain 5_1880865_T->C 5 1880865 1880865 T C snp 1985.77 0/1 99 164 80 84 0.51 exonic rs4975753 IRX4 AU synonymous SNV NM_016358 exon3 c.A381G p.P127P 0.297324 0.3313 0.253268 0.2593 0.3129 Uncertain 5_1881916_A->C 5 1881916 1881916 A C snp 1808.77 0/1 99 160 80 80 0.5 splicing rs2307118 IRX4 AU NM_016358 exon4 c.3839-5A>C 0.292332 0.3304 0.229545 0.3214 0.3924 Pathogenic 5_1882129_T->G 5 1882129 1882129 T G snp 1837.77 0/1 99 145 69 76 0.52 exonic rs2232374 IRX4 AU synonymous SNV NM_016358 exon2 c.A90C p.G30G 0.277356 0.3313 0.151486 0.2803 0.3966 Uncertain 5_1882280_C->G 5 1882280 1882280 C G snp 277.77 0/1 99 29 18 11 0.38 intronic rs2232373 IRX4 AU NM_016358 exon4 c.4091+107C>G 0.281749 0.3304 Uncertain 5_1882900_C->T 5 1882900 1882900 C T snp 56.74 1/1 6 2 0 2 1.0 upstream rs6876836 IRX4 AU 0.646765 0.6617 Uncertain 5_2749057_C->A 5 2749057 2749057 C A snp 1307.77 0/1 99 135 80 55 0.41 exonic rs76906087 IRX2 AU nonsynonymous SNV NM_001134222 exon3 c.G765T p.E255D 0.117013 0.0913 0.111548 0.1568 0.0856 0.22 T 1.000 P -1.043 T 0.982 D 0.525 D Pathogenic 5_2755031_A->G 5 2755031 2755031 A G snp 170.77 0/1 99 22 15 7 0.32 intronic rs62333234 C5orf38 AU NM_001294337 exon2 c.2764-111A>G 0.386781 0.3006 Uncertain 5_2755485_C->T 5 2755485 2755485 C T snp 2795.77 0/1 99 224 100 124 0.55 UTR3 rs62333235 C5orf38 AU 0.296725 0.2192 0.4784 0.1818 0.000 P Uncertain 5_3599249_G->A 5 3599249 3599249 G A snp 575.77 0/1 99 52 26 26 0.5 intronic rs828339 IRX1 AU NM_024337 exon2 c.3119-89G>A 0.102636 0.2192 Uncertain 5_3599284_T->C 5 3599284 3599284 T C snp 1006.77 0/1 99 97 54 43 0.44 intronic rs828338 IRX1 AU NM_024337 exon2 c.3119-54T>C 0.108227 0.246 Uncertain 5_3599320_A->G 5 3599320 3599320 A G snp 1441.77 0/1 99 157 90 67 0.43 intronic rs861185 IRX1 AU NM_024337 exon2 c.3119-18A>G 0.23762 0.2252 0.208154 0.2439 0.1938 Uncertain 5_3600334_T->C 5 3600334 3600334 T C snp 3741.77 1/1 99 121 0 121 1.0 exonic rs844154 IRX1 AU synonymous SNV NM_024337 exon2 c.T1272C p.N424N 0.848642 0.7639 0.918231 0.8898 0.7433 Uncertain 5_3610658_T->C 5 3610658 3610658 T C snp 417.77 1/1 33 13 0 13 1.0 intergenic rs1373997 IRX1 AU 0.837061 0.8185 Uncertain 5_4087485_G->T 5 4087485 4087485 G T snp 739.77 1/1 54 29 0 29 1.0 intergenic rs6869319 IRX1 AU 0.82528 0.8948 Uncertain 5_4095652_T->C 5 4095652 4095652 T C snp 2299.77 1/1 99 70 0 70 1.0 intergenic rs1689760 IRX1 AU Uncertain 5_4095683_-->TTTTCTTTTCT 5 4095683 4095683 - TTTTCTTTTCT indel 1624.73 1/1 60 24 0 24 1.0 intergenic IRX1 AU Uncertain 5_4420188_-->TGTA 5 4420188 4420188 - TGTA indel 10982.7 1/1 99 192 0 192 1.0 intergenic rs140931368 IRX1 AU 0.855631 0.9345 Uncertain 5_4420474_A->G 5 4420474 4420474 A G snp 472.77 0/1 99 51 32 19 0.37 intergenic rs2436584 IRX1 AU 0.337061 0.4464 Uncertain 5_4702352_T->G 5 4702352 4702352 T G snp 58.77 0/1 87 9 5 4 0.44 intergenic rs6555310 IRX1 AU 0.769569 0.7153 Uncertain 5_4702461_C->T 5 4702461 4702461 C T snp 34.77 0/1 63 6 4 2 0.33 intergenic rs4315900 IRX1 AU 0.784744 0.7143 Uncertain 5_4930051_G->T 5 4930051 4930051 G T snp 1293.77 1/1 96 39 0 39 1.0 intergenic rs27416 LOC101929153 AU 0.998602 0.9931 Uncertain 5_5140632_T->C 5 5140632 5140632 T C snp 320.77 0/1 99 31 14 17 0.55 exonic rs270208 ADAMTS16 AU synonymous SNV NM_139056 exon1 c.T52C p.L18L 0.624401 0.8065 0.592412 0.5633 0.7744 Uncertain 5_5140958_T->A 5 5140958 5140958 T A snp 743.77 0/1 99 53 23 30 0.57 intronic rs270207 ADAMTS16 AU NM_139056 exon2 c.299+79T>A 0.55012 0.7738 Uncertain 5_5140970_C->T 5 5140970 5140970 C T snp 608.77 0/1 99 44 21 23 0.52 intronic rs270206 ADAMTS16 AU NM_139056 exon2 c.299+91C>T 0.716653 0.8641 Uncertain 5_5146200_A->T 5 5146200 5146200 A T snp 1496.77 0/1 99 113 49 64 0.57 intronic rs1863969 ADAMTS16 AU NM_139056 exon3 c.5662-42A>T 0.713858 0.5873 0.772886 0.7265 0.5818 Uncertain 5_5146223_G->C 5 5146223 5146223 G C snp 3724.77 1/1 99 141 0 141 1.0 intronic rs1871468 ADAMTS16 AU NM_139056 exon3 c.5662-19G>C 0.793131 0.626 0.827195 0.8350 0.6407 Uncertain 5_5146335_C->G 5 5146335 5146335 C G snp 5304.77 1/1 99 186 0 186 1.0 exonic rs2086310 ADAMTS16 AU nonsynonymous SNV NM_139056 exon3 c.C268G p.P90A 0.695487 0.498 0.759235 0.7760 0.5142 0.85 T 0.0 P -1.058 T 0.0 T 0.0 T ID=CM094240;DIS=Increased systolic blood pressure, association with;TAG=DP;PUB=19423552 DP Pathogenic 5_5146377_T->C 5 5146377 5146377 T C snp 1681.77 0/1 99 165 83 82 0.5 exonic rs1019747 ADAMTS16 AU nonsynonymous SNV NM_139056 exon3 c.T310C p.S104P 0.494409 0.5 0.442423 0.4375 0.5042 0.15 T 0.001 P -1.024 T 0.0 T 0.004 T Pathogenic 5_5146395_A->G 5 5146395 5146395 A G snp 1691.77 0/1 99 156 77 79 0.51 exonic rs1863968 ADAMTS16 AU nonsynonymous SNV NM_139056 exon3 c.A328G p.M110V 0.482827 0.4286 0.551960 0.5537 0.4224 0.02 T 0.001 P -0.902 T 0.005 T 0.004 T Pathogenic 5_5186416_T->G 5 5186416 5186416 T G snp 1227.77 1/1 90 44 0 44 1.0 intronic rs62339905 ADAMTS16 AU NM_139056 exon5 c.45784+52T>G 0.3850 0.3986 Uncertain 5_5187776_G->A 5 5187776 5187776 G A snp 4862.77 1/1 99 185 1 184 0.99 intronic rs1863972 ADAMTS16 AU NM_139056 exon6 c.47257-61G>A 0.71246 0.7996 Uncertain 5_5189950_G->A 5 5189950 5189950 G A snp 423.77 1/1 33 11 0 11 1.0 intronic rs6859975 ADAMTS16 AU NM_139056 exon7 c.49503-133G>A 0.894369 0.8026 Uncertain 5_5200220_-->TCTC 5 5200220 5200220 - TCTC indel 3795.73 ./1 99 103 3 100 0.97 intronic rs528803925 ADAMTS16 AU NM_139056 exon9 c.59664-24insTCTC 0.2292 0.2727 Uncertain 5_5200220_-->TC 5 5200220 5200220 - TC indel 3795.73 ./1 99 103 3 100 0.97 intronic rs397734267 ADAMTS16 AU NM_139056 exon9 c.59664-24insTC 0.4693 0.4731 Uncertain 5_5200281_C->T 5 5200281 5200281 C T snp 3296.77 1/1 99 120 0 120 1.0 exonic rs6555335 ADAMTS16 AU synonymous SNV NM_139056 exon9 c.C1350T p.C450C 0.72524 0.8026 0.705095 0.7563 0.8073 Uncertain 5_5200490_T->C 5 5200490 5200490 T C snp 124.77 0/1 66 7 2 5 0.71 intronic rs17762877 ADAMTS16 AU NM_139056 exon9 c.59802+108T>C 0.22524 0.0694 Uncertain 5_5223073_A->G 5 5223073 5223073 A G snp 4387.77 1/1 99 148 0 148 1.0 intronic rs12652968 ADAMTS16 AU NM_139056 exon11 c.82417+76A>G 0.379393 0.3681 Uncertain 5_5232346_G->A 5 5232346 5232346 G A snp 376.77 0/1 99 28 12 16 0.57 intronic rs2913623 ADAMTS16 AU NM_139056 exon12 c.91900-134G>A 0.765375 0.7927 Uncertain 5_5232357_GG->- 5 5232357 5232358 GG - indel 755.73 0/1 99 32 14 18 0.56 intronic rs150710468 ADAMTS16 AU NM_139056 exon12 c.91900-123_91900-122delGG 0.765375 0.7927 Uncertain 5_5232398_G->A 5 5232398 5232398 G A snp 899.77 0/1 99 71 31 40 0.56 intronic rs2913624 ADAMTS16 AU NM_139056 exon12 c.91900-82G>A 0.765575 0.7937 Uncertain 5_5235001_A->G 5 5235001 5235001 A G snp 113.77 0/1 30 7 3 4 0.57 intronic rs57587005 ADAMTS16 AU NM_139056 exon13 c.94546-125A>G Uncertain 5_5235028_T->C 5 5235028 5235028 T C snp 290.77 0/1 99 22 12 10 0.45 intronic rs2913630 ADAMTS16 AU NM_139056 exon13 c.94546-98T>C 0.714257 0.8115 Uncertain 5_5235096_A->G 5 5235096 5235096 A G snp 580.77 0/1 99 45 20 25 0.56 intronic rs2913631 ADAMTS16 AU NM_139056 exon13 c.94546-30A>G 0.714257 0.8115 0.699508 0.7563 0.8331 Uncertain 5_5239921_C->T 5 5239921 5239921 C T snp 1292.77 0/1 99 114 55 59 0.52 exonic rs11742341 ADAMTS16 AU synonymous SNV NM_139056 exon16 c.C2406T p.T802T 0.114617 0.0764 0.144801 0.1675 0.0885 Uncertain 5_5240002_C->A 5 5240002 5240002 C A snp 539.77 0/1 99 73 47 26 0.36 exonic rs11742370 ADAMTS16 AU synonymous SNV NM_139056 exon16 c.C2487A p.I829I 0.113419 0.0734 0.141711 0.1663 0.0884 Uncertain 5_5303349_T->C 5 5303349 5303349 T C snp 443.77 1/1 33 15 0 15 1.0 intronic rs11959893 ADAMTS16 AU NM_139056 exon19 c.162800-31T>C 0.610024 0.627 0.639566 0.6447 0.6336 Uncertain 5_5303614_C->T 5 5303614 5303614 C T snp 2877.77 1/1 99 100 0 100 1.0 intronic rs11134110 ADAMTS16 AU NM_139056 exon19 c.163002+32C>T 0.311102 0.5218 0.258762 0.3466 0.5316 Uncertain 5_5423141_G->T 5 5423141 5423141 G T snp 241.77 0/1 99 18 7 11 0.61 intronic rs116360315 ICE1 AU NM_015325 exon1 c.84+29G>T 0.167332 0.3036 0.1009 0.2931 Uncertain 5_5443179_G->A 5 5443179 5443179 G A snp 192.77 0/1 99 13 4 9 0.69 intronic rs2578554 ICE1 AU NM_015325 exon6 c.20252-101G>A 0.504992 0.6399 Uncertain 5_5443431_T->- 5 5443431 5443431 T - indel 140.74 0/1 29 11 2 9 0.82 intronic rs112316712 ICE1 AU NM_015325 exon6 c.20329+74delT Uncertain 5_5444343_-->A 5 5444343 5444343 - A indel 517.73 0/1 99 27 13 14 0.52 intronic rs199600206 ICE1 AU NM_015325 exon7 c.21373-58insA 0.136182 0.3353 0.012423 Uncertain 5_5444362_-->G 5 5444362 5444362 - G indel 717.73 0/1 99 36 17 19 0.53 intronic rs151022183 ICE1 AU NM_015325 exon7 c.21373-39insG 0.136382 0.3363 0.017251 0.0478 0.2685 Uncertain 5_5447607_A->G 5 5447607 5447607 A G snp 929.77 0/1 99 83 45 38 0.46 exonic rs4702269 ICE1 AU synonymous SNV NM_015325 exon8 c.A492G p.E164E 0.134185 0.3343 0.016721 0.0549 0.3140 Uncertain 5_5460569_C->T 5 5460569 5460569 C T snp 939.77 1/1 69 26 0 26 1.0 exonic rs2578565 ICE1 AU synonymous SNV NM_015325 exon13 c.C1122T p.Y374Y 0.719249 0.6944 0.684764 0.6973 0.7222 Uncertain 5_5460619_G->C 5 5460619 5460619 G C snp 1776.77 1/1 99 59 0 59 1.0 exonic rs2619844 ICE1 AU nonsynonymous SNV NM_015325 exon13 c.G1172C p.C391S 0.722244 0.6944 0.687849 0.6964 0.7227 0.65 T 0.0 P -0.991 T 0.0 T 0.0 T Pathogenic 5_5462148_G->A 5 5462148 5462148 G A snp 7470.77 1/1 99 248 0 248 1.0 exonic rs2578500 ICE1 AU nonsynonymous SNV NM_015325 exon13 c.G2701A p.V901I 0.71266 0.6845 0.689908 0.6852 0.7171 0.68 T 0.0 P -0.981 T 0.0 T 0.0 T Pathogenic 5_5462607_A->G 5 5462607 5462607 A G snp 2812.77 0/1 99 249 128 121 0.49 exonic rs3806873 ICE1 AU nonsynonymous SNV NM_015325 exon13 c.A3160G p.T1054A 0.107628 0.2867 0.017638 0.0654 0.2984 0.21 T 0.0 P -0.948 T 0.006 T 0.006 T Pathogenic 5_5462620_G->A 5 5462620 5462620 G A snp 2949.77 0/1 99 249 124 125 0.5 exonic rs3806874 ICE1 AU nonsynonymous SNV NM_015325 exon13 c.G3173A p.G1058D 0.107628 0.2867 0.017718 0.0653 0.2982 0.81 T 0.0 P -0.972 T 0.557 P 0.167 P Pathogenic 5_5473866_G->C 5 5473866 5473866 G C snp 707.77 0/1 99 42 19 23 0.55 splicing rs2306349 ICE1 AU NM_015325 exon16 c.50833+5G>C 0.132788 0.3343 0.018475 0.0964 0.3915 Pathogenic 5_5476250_-->G 5 5476250 5476250 - G indel 540.73 1/1 51 17 0 17 1.0 intronic rs11416699 ICE1 AU NM_015325 exon17 c.53164+58insG 0.709065 0.6954 Uncertain 5_5489383_G->A 5 5489383 5489383 G A snp 1056.77 0/1 99 152 101 51 0.34 exonic rs16900247 ICE1 AU synonymous SNV NM_015325 exon19 c.G6741A p.P2247P 0.0966454 0.2698 0.011400 0.0599 0.2793 Uncertain 5_6020374_A->G 5 6020374 6020374 A G snp 3005.77 1/1 99 112 0 112 1.0 intergenic rs464221 ICE1 AU 0.58746 0.7381 0.554485 0.6355 0.7784 Uncertain 5_6020418_T->G 5 6020418 6020418 T G snp 2157.77 1/1 99 84 0 84 1.0 intergenic rs457263 ICE1 AU 0.58746 0.7381 0.551681 0.5886 0.7590 Uncertain 5_6020488_C->T 5 6020488 6020488 C T snp 1002.77 1/1 75 33 0 33 1.0 intergenic rs412953 ICE1 AU 0.58746 0.7381 Uncertain 5_6372585_A->G 5 6372585 6372585 A G snp 308.77 0/1 99 21 8 13 0.62 UTR3 rs9451 MED10 AU 0.505791 0.4921 0.511302 0.4944 0.4723 Uncertain 5_6378614_G->C 5 6378614 6378614 G C snp 5984.77 1/1 99 220 0 220 1.0 UTR5 rs7723985 MED10 AU 0.998802 1 0.997616 0.9994 0.9990 Uncertain 5_6491532_T->C 5 6491532 6491532 T C snp 119.77 0/1 99 7 3 4 0.57 UTR3 rs3733778 UBE2QL1 AU 0.318291 0.0903 Uncertain 5_6602544_T->C 5 6602544 6602544 T C snp 1050.77 0/1 99 82 39 43 0.52 intronic rs2303711 NSUN2 AR NM_001193455 exon2 c.2535-29T>C 0.676917 0.6746 0.702983 0.6627 0.6584 Uncertain 5_6602668_G->C 5 6602668 6602668 G C snp 1645.77 0/1 99 154 84 70 0.45 intronic rs2303710 NSUN2 AR NM_001193455 exon2 c.2575+55G>C 0.380391 0.2083 0.437144 Uncertain 5_6604931_C->T 5 6604931 6604931 C T snp 619.77 0/1 99 53 27 26 0.49 intronic rs6889694 NSUN2 AR NM_001193455 exon4 c.4760+133C>T 0.550919 0.6677 Uncertain 5_6604970_G->A 5 6604970 6604970 G A snp 333.77 0/1 99 18 8 10 0.56 intronic rs6888601 NSUN2 AR NM_001193455 exon4 c.4760+172G>A 0.53095 0.6677 Uncertain 5_6605271_G->A 5 6605271 6605271 G A snp 80.77 0/1 28 4 1 3 0.75 intronic rs506416 NSUN2 AR NM_001193455 exon5 c.5347-114G>A 0.716853 0.6736 Uncertain 5_6605532_C->A 5 6605532 6605532 C A snp 1048.77 0/1 99 81 39 42 0.52 intronic rs2303707 NSUN2 AR NM_001193455 exon5 c.5483+11C>A 0.675319 0.6726 0.6609 0.6560 Uncertain 5_6607126_AAC->- 5 6607126 6607128 AAC - indel 3340.73 0/1 99 144 80 64 0.44 intronic rs3217325 NSUN2 AR NM_001193455 exon6 c.6987+101_6987+103delAAC 0.667332 0.6726 Uncertain 5_6607135_C->T 5 6607135 6607135 C T snp 1403.77 0/1 99 127 69 58 0.46 intronic rs114937174 NSUN2 AR NM_001193455 exon6 c.6987+110C>T 0.0634984 0.1954 Uncertain 5_6611757_A->T 5 6611757 6611757 A T snp 1075.77 0/1 99 90 49 41 0.46 intronic rs10454287 NSUN2 AR NM_001193455 exon10 c.11799-80A>T 0.540735 0.6667 Uncertain 5_6611983_C->A 5 6611983 6611983 C A snp 890.77 0/1 99 108 69 39 0.36 intronic rs3733776 NSUN2 AR NM_001193455 exon10 c.11873+72C>A 0.530551 0.6667 Uncertain 5_6612027_T->C 5 6612027 6612027 T C snp 335.77 0/1 99 58 42 16 0.28 intronic rs6884320 NSUN2 AR NM_001193455 exon10 c.11873+116T>C 0.27496 0.2034 Uncertain 5_6617011_C->A 5 6617011 6617011 C A snp 1173.77 0/1 99 97 45 52 0.54 intronic rs6887702 NSUN2 AR NM_001193455 exon11 c.16932+41C>A 0.666534 0.6736 0.6600 0.6588 Uncertain 5_6618186_T->C 5 6618186 6618186 T C snp 1470.77 0/1 99 94 43 51 0.54 intronic rs10475338 NSUN2 AR NM_001193455 exon12 c.18099+49T>C 0.669329 0.6746 0.693680 0.6611 0.6613 Uncertain 5_6620459_A->G 5 6620459 6620459 A G snp 119.77 0/1 99 8 4 4 0.5 intronic rs2288446 NSUN2 AR NM_001193455 exon13 c.20373+48A>G 0.675519 0.6786 0.701753 0.6629 0.6618 Uncertain 5_6737571_A->G 5 6737571 6737571 A G snp 408.77 0/1 99 27 12 15 0.56 intronic rs2279657 PAPD7 AU 0.550719 0.5734 Uncertain 5_6737576_G->A 5 6737576 6737576 G A snp 442.77 0/1 99 30 15 15 0.5 intronic rs2279656 PAPD7 AU 0.290136 0.3909 Uncertain 5_6739039_T->G 5 6739039 6739039 T G snp 43.77 0/1 70 4 2 2 0.5 intronic rs573304 PAPD7 AU NM_006999 exon3 c.1186+197T>G Uncertain 5_6739791_G->A 5 6739791 6739791 G A snp 1455.77 0/1 99 194 128 66 0.34 intronic rs419128 PAPD7 AU NM_006999 exon4 c.2188-53G>A 0.286941 0.3909 Uncertain 5_6744176_G->A 5 6744176 6744176 G A snp 37.77 0/1 66 6 4 2 0.33 intronic rs274672 PAPD7 AU NM_006999 exon6 c.6297+223G>A 0.385783 0.4127 Uncertain 5_6748518_A->G 5 6748518 6748518 A G snp 658.77 0/1 99 39 18 21 0.54 intronic rs274682 PAPD7 AU NM_001171806 exon2 c.2205-58A>G 0.563698 0.5734 Uncertain 5_6748659_T->C 5 6748659 6748659 T C snp 2712.77 0/1 99 247 127 120 0.49 exonic rs274681 PAPD7 AU synonymous SNV NM_006999 exon8 c.T792C p.A264A 0.564696 0.5754 0.615562 0.6585 0.6062 Uncertain 5_6751426_A->C 5 6751426 6751426 A C snp 205.77 0/1 99 15 8 7 0.47 intronic rs274679 PAPD7 AU NM_001171806 exon5 c.4939+116A>C 0.553514 0.5804 Uncertain 5_6754762_T->C 5 6754762 6754762 T C snp 370.77 0/1 99 37 22 15 0.41 intronic rs274676 PAPD7 AU NM_001171806 exon7 c.8492-101T>C 0.552117 0.5744 Uncertain 5_6827854_C->T 5 6827854 6827854 C T snp 3288.77 1/1 99 103 0 103 1.0 downstream rs275441 MIR4278 AU 0.513778 0.5288 Uncertain 5_7521083_G->A 5 7521083 7521083 G A snp 68.77 0/1 97 9 6 3 0.33 intronic rs3828628 ADCY2 AU NM_020546 exon3 c.124603+71G>A 0.226837 0.3165 Uncertain 5_7690707_C->T 5 7690707 7690707 C T snp 50.74 1/1 6 2 0 2 1.0 intronic rs2973326 ADCY2 AU NM_020546 exon5 c.294394-96C>T 0.978634 1 Uncertain 5_7695845_C->A 5 7695845 7695845 C A snp 2991.77 1/1 99 107 0 107 1.0 intronic rs11134251 ADCY2 AU NM_020546 exon6 c.299455-19C>A 0.596645 0.8343 0.489697 0.5254 0.8154 Uncertain 5_7696028_C->T 5 7696028 7696028 C T snp 1811.77 1/1 99 63 0 63 1.0 intronic rs11134252 ADCY2 AU NM_020546 exon6 c.299567+52C>T 0.597045 0.8343 0.492024 0.5148 0.8120 Uncertain 5_7712810_C->T 5 7712810 7712810 C T snp 264.8 1/1 21 7 0 7 1.0 intronic rs6555488 ADCY2 AU NM_020546 exon11 c.316559-158C>T 0.988618 1 Uncertain 5_7717396_T->C 5 7717396 7717396 T C snp 940.77 1/1 69 38 0 38 1.0 intronic rs6878196 ADCY2 AU NM_020546 exon12 c.320941+46T>C 0.57508 0.9494 0.406024 0.5013 0.9475 Uncertain 5_7757720_G->A 5 7757720 7757720 G A snp 495.77 0/1 99 37 22 15 0.41 intronic rs200756231 ADCY2 AU NM_020546 exon16 c.361290+21G>A 0.000399361 0.002 0.000077 0.0001 0.0016 Uncertain 5_7826649_AAC->- 5 7826649 7826651 AAC - indel 206.73 0/1 99 16 11 5 0.31 intronic rs10556518 ADCY2 AU NM_020546 exon25 c.430422-182_430422-180delAAC 0.477835 0.3502 Uncertain 5_7826680_T->C 5 7826680 7826680 T C snp 481.77 0/1 99 34 16 18 0.53 intronic rs6887726 ADCY2 AU NM_020546 exon25 c.430422-151T>C 0.470048 0.3512 0.5841 0.4553 Uncertain 5_7835555_C->G 5 7835555 7835555 C G snp 2074.77 0/1 99 198 104 94 0.47 exonic rs6883562 C5orf49 AU nonsynonymous SNV NM_001089584 exon2 c.G204C p.Q68H 0.177316 0.0972 0.231121 0.2134 0.0908 0.08 T 0.162 P -1.035 T 0.965 D 0.471 D Pathogenic 5_7835685_G->T 5 7835685 7835685 G T snp 600.77 0/1 99 76 50 26 0.34 intronic rs179044 C5orf49 AU NM_001089584 exon2 c.3649+74G>T 0.624401 0.4246 Uncertain 5_7850899_GCCCAGCC->- 5 7850899 7850906 GCCCAGCC - indel 1788.73 1/1 57 19 0 19 1.0 intronic rs547389546 C5orf49 AU NM_001089584 exon3 c.19025-88_19025-81delGCCCAGCC 0.98722 0.9821 Uncertain 5_7859702_T->G 5 7859702 7859702 T G snp 1832.77 0/1 99 169 86 83 0.49 intronic rs16879236 FASTKD3 AU NM_024091 exon1 c.105+50T>G 0.118411 0.2093 0.074473 0.0758 0.2116 Uncertain 5_7861638_C->T 5 7861638 7861638 C T snp 135.03 1/1 12 5 0 5 1.0 intronic rs162027 FASTKD3 AU NM_024091 exon3 c.2148-57C>T 0.821086 0.6696 0.848226 Uncertain 5_7861985_G->A 5 7861985 7861985 G A snp 473.77 0/1 99 35 19 16 0.46 intronic rs2307116 FASTKD3 AU NM_024091 exon3 c.2218+220G>A 0.253994 0.2609 Uncertain 5_7862926_T->C 5 7862926 7862926 T C snp 297.77 0/1 99 20 8 12 0.6 intronic rs3733784 FASTKD3 AU NM_024091 exon4 c.3388-9T>C 0.445088 0.3125 0.541596 0.5627 0.3331 Uncertain 5_7866136_TGAGG->- 5 7866136 7866140 TGAGG - indel 3157.73 0/1 99 82 33 49 0.6 intronic rs141939619 FASTKD3 AU NM_024091 exon5 c.6549+40_6549+44delTGAGG 0.255391 0.2619 0.235304 0.2994 0.2759 Uncertain 5_7866821_T->C 5 7866821 7866821 T C snp 1153.77 0/1 99 88 45 43 0.49 exonic rs16879259 FASTKD3 AU nonsynonymous SNV NM_024091 exon2 c.A1376G p.E459G 0.0878594 0.2093 0.042442 0.0621 0.2076 0.49 T 0.000 P -1.030 T 0.033 T 0.038 T Pathogenic 5_7866967_G->C 5 7866967 7866967 G C snp 6094.77 1/1 99 222 0 222 1.0 exonic rs162030 FASTKD3 AU synonymous SNV NM_024091 exon2 c.C1230G p.A410A 0.820487 0.6716 0.846455 0.8198 0.7023 Uncertain 5_7868030_T->C 5 7868030 7868030 T C snp 7257.77 1/1 99 249 0 249 1.0 exonic rs2966952 FASTKD3 AU nonsynonymous SNV NM_024091 exon2 c.A167G p.K56R 0.821486 0.6716 0.847532 0.8201 0.7035 1 T 0.0 P -0.976 T 0.0 T 0.0 T Pathogenic 5_7868269_A->G 5 7868269 7868269 A G snp 341.77 0/1 99 23 10 13 0.57 UTR5 rs3733781 FASTKD3 AU 0.118211 0.2083 Uncertain 5_7869884_G->A 5 7869884 7869884 G A snp 182.77 0/1 99 10 4 6 0.6 intronic rs79227708 MTRR AR NM_024010 exon1 c.56+582G>A 0.0708866 0.2093 Uncertain 5_7869900_G->C 5 7869900 7869900 G C snp 283.77 0/1 99 19 10 9 0.47 intronic rs73737651 MTRR AR NM_024010 exon1 c.56+598G>C 0.0880591 0.2093 Uncertain 5_7870083_C->A 5 7870083 7870083 C A snp 4480.77 1/1 99 161 0 161 1.0 intronic rs326119 MTRR AR NM_024010 exon1 c.56+781C>A 0.631989 0.624 ID=CR120988;DIS=Coronary heart disease, increased risk, association with;TAG=DFP;PUB=22179537 DFP Uncertain 5_7870095_G->A 5 7870095 7870095 G A snp 1900.77 0/1 99 171 87 84 0.49 intronic rs12653464 MTRR AR NM_024010 exon2 c.1636-787G>A 0.259385 0.2619 Uncertain 5_7870973_A->G 5 7870973 7870973 A G snp 2112.77 0/1 99 210 117 93 0.44 exonic rs1801394 MTRR AR nonsynonymous SNV NM_002454 exon2 c.A66G p.I22M 0.364217 0.2629 0.452407 0.4730 0.2811 0.02 T 0.003 P -0.905 T 1.0 D 0.99 D CLINSIG=other|other|non-pathogenic|unknown;CLNDBN=Neural_tube_defects\x2c_folate-sensitive\x2c_susceptibility_to|Down_syndrome\x2c_susceptibility_to|not_provided|Gastrointestinal_Stromal_Tumors;CLNREVSTAT=no_assertion_criteria_provided|no_assertion_criteria_provided|criteria_provided\x2c_single_submitter|no_assertion_criteria_provided;CLNACC=RCV000007444.1|RCV000007445.1|RCV000126873.1|RCV000144926.1;CLNDSDB=.|.|MedGen|MedGen:OMIM:Orphanet;CLNDSDBID=.|.|CN221809|C0238198:606764:ORPHA44890 ID=CM004563;DIS=Coronary artery disease, association with;TAG=DFP;PUB=11006889 DFP Pathogenic 5_7878179_C->T 5 7878179 7878179 C T snp 1732.77 0/1 99 134 63 71 0.53 exonic rs1532268 MTRR AR nonsynonymous SNV NM_002454 exon5 c.C524T p.S175L 0.269968 0.129 0.328233 0.3155 0.1574 0.3 T 0.0 P -0.910 T 0.0 T 0.0 T CLINSIG=non-pathogenic|unknown;CLNDBN=not_provided|Gastrointestinal_Stromal_Tumors;CLNREVSTAT=criteria_provided\x2c_single_submitter|no_assertion_criteria_provided;CLNACC=RCV000126884.1|RCV000144927.1;CLNDSDB=MedGen|MedGen:OMIM:Orphanet;CLNDSDBID=CN221809|C0238198:606764:ORPHA44890 ID=CM025887;DIS=Altered activity;TAG=FP;PUB=12416982 FP Pathogenic 5_7885782_-->T 5 7885782 7885782 - T indel 182.73 0/1 99 49 27 22 0.45 intronic rs11398509 MTRR AR NM_024010 exon7 c.16567-31insT 0.516374 0.5248 0.515178 0.4754 0.4986 Uncertain 5_7886104_T->C 5 7886104 7886104 T C snp 106.77 0/1 58 7 2 5 0.71 intronic rs162037 MTRR AR NM_024010 exon7 c.16721+137T>C 0.814696 0.6647 Uncertain 5_7893121_G->A 5 7893121 7893121 G A snp 334.77 0/1 99 47 35 12 0.26 intronic rs162049 MTRR AR NM_024010 exon11 c.23780+95G>A 0.741613 0.4663 Uncertain 5_7897319_G->A 5 7897319 7897319 G A snp 1062.77 0/1 99 93 46 47 0.51 exonic rs1802059 MTRR AR synonymous SNV NM_002454 exon14 c.G1911A p.A637A 0.266374 0.13 0.323620 0.3142 0.1581 CLINSIG=non-pathogenic;CLNDBN=not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000126882.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Uncertain 5_8461166_T->C 5 8461166 8461166 T C snp 1334.77 1/1 96 41 0 41 1.0 ncRNA_exonic rs341899 MIR4458HG AU 0.992212 1 Uncertain 5_9043142_-->A 5 9043142 9043142 - A indel 110.73 0/1 37 11 2 9 0.82 intronic rs3834271 SEMA5A AU NM_003966 exon1 c.120+14insA 0.922324 0.9534 0.885383 0.8702 0.9261 Uncertain 5_9050410_C->T 5 9050410 9050410 C T snp 835.77 0/1 99 51 20 31 0.61 intronic rs257098 SEMA5A AU NM_003966 exon3 c.7513-111C>T 0.7502 0.9405 Uncertain 5_9053945_C->T 5 9053945 9053945 C T snp 1256.77 0/1 99 94 42 52 0.55 ncRNA_exonic rs257095 MIR4636 AU 0.903155 0.9563 0.8949 0.9286 Uncertain 5_9066464_A->G 5 9066464 9066464 A G snp 1075.77 0/1 99 69 29 40 0.58 intronic rs786847 SEMA5A AU NM_003966 exon7 c.23524-68A>G 0.705072 0.9315 Uncertain 5_9066802_G->A 5 9066802 9066802 G A snp 1010.77 0/1 99 91 49 42 0.46 intronic rs786846 SEMA5A AU NM_003966 exon7 c.23750+44G>A 0.803514 0.9405 0.762187 0.7978 0.9396 Uncertain 5_9108333_C->T 5 9108333 9108333 C T snp 2118.77 0/1 99 226 135 91 0.4 exonic rs34874986 SEMA5A AU synonymous SNV NM_003966 exon16 c.G1992A p.R664R 0.184305 0.3333 0.100800 0.1112 0.3262 Uncertain 5_9108427_G->T 5 9108427 9108427 G T snp 1896.77 0/1 99 204 117 87 0.43 intronic rs41283161 SEMA5A AU NM_003966 exon8 c.65391+28G>T 0.182708 0.3323 0.100415 0.1112 0.3251 Uncertain 5_9108488_T->C 5 9108488 9108488 T C snp 1172.77 0/1 99 102 59 43 0.42 intronic rs16881994 SEMA5A AU NM_003966 exon8 c.65391+89T>C 0.184305 0.3323 Uncertain 5_9122926_C->T 5 9122926 9122926 C T snp 1673.77 0/1 99 145 69 76 0.52 exonic rs6894626 SEMA5A AU synonymous SNV NM_003966 exon14 c.G1623A p.G541G 0.121482 0.1279 0.3286 Uncertain 5_9190697_T->C 5 9190697 9190697 T C snp 56.74 1/1 6 2 0 2 1.0 intronic rs1806094 SEMA5A AU NM_003966 exon13 c.147575+114T>C 0.528754 0.4752 Uncertain 5_9197434_-->GAG 5 9197434 9197434 - GAG indel 606.73 0/1 99 23 7 16 0.7 intronic rs3216958 SEMA5A AU NM_003966 exon14 c.154407+19insGAG 0.413938 0.4256 0.372145 0.3650 0.3920 Uncertain 5_9201973_C->T 5 9201973 9201973 C T snp 456.77 0/1 99 18 5 13 0.72 intronic rs40683 SEMA5A AU NM_003966 exon15 c.159058-93C>T 0.405751 0.4286 Uncertain 5_9238005_G->A 5 9238005 9238005 G A snp 2530.77 0/1 99 205 98 107 0.52 splicing rs1806007 SEMA5A AU NM_003966 exon18 c.194994+3G>A 0.0301518 0.0843 0.001153 0.0167 0.0833 Pathogenic 5_9265602_C->T 5 9265602 9265602 C T snp 4091.77 1/1 99 147 0 147 1.0 intronic rs7734564 SEMA5A AU NM_003966 exon18 c.194994+27600C>T 0.38099 0.4821 0.4129 0.5192 0.17 T 0.0 P -0.923 T Uncertain 5_9280957_C->A 5 9280957 9280957 C A snp 3666.77 1/1 99 135 1 134 0.99 intronic rs6555597 SEMA5A AU NM_003966 exon19 c.275475-37526C>A 1 1 1 1 Uncertain 5_9629529_G->A 5 9629529 9629529 G A snp 1456.77 0/1 99 131 69 62 0.47 exonic rs2234233 TAS2R1 AU nonsynonymous SNV NM_019599 exon1 c.C616T p.R206W 0.114217 0.1071 0.125942 0.1505 0.1167 0.0 P -0.902 T 0.002 T 0.001 T Pathogenic 5_10227548_C->A 5 10227548 10227548 C A snp 2746.77 1/1 99 100 0 100 1.0 UTR3 rs2136197 FAM173B AU 0.945687 0.8601 0.973921 0.9526 0.8810 Uncertain 5_10227823_-->CT 5 10227823 10227823 - CT indel 570.73 1/1 36 16 0 16 1.0 intronic rs3080459 FAM173B AU NM_001258389 exon1 c.26+64insCT 0.645367 0.8284 Uncertain 5_10235490_G->A 5 10235490 10235490 G A snp 2230.77 1/1 99 78 0 78 1.0 intronic rs2292264 FAM173B AU NM_001258389 exon2 c.7640+117G>A 0.33766 0.7877 Uncertain 5_10236927_C->T 5 10236927 10236927 C T snp 2411.77 1/1 99 77 0 77 1.0 intronic rs2292263 FAM173B AU NM_001258389 exon3 c.8994+200C>T 0.878994 0.872 Uncertain 5_10237036_A->G 5 10237036 10237036 A G snp 3616.77 1/1 99 136 0 136 1.0 intronic rs12653481 FAM173B AU NM_001258389 exon3 c.8994+309A>G 0.33726 0.7887 0.2897 0.7681 Uncertain 5_10239261_G->A 5 10239261 10239261 G A snp 5844.77 1/1 99 210 0 210 1.0 exonic rs2438652 FAM173B AU nonsynonymous SNV NM_001258388 exon2 c.C224T p.T75M 0.327077 0.7877 0.134213 0.2463 0.7746 0.11 T 0.000 P -1.109 T 0.996 D 0.851 D Pathogenic 5_10239278_C->T 5 10239278 10239278 C T snp 5604.77 1/1 99 200 0 200 1.0 exonic rs2252505 FAM173B AU synonymous SNV NM_001258388 exon2 c.G207A p.P69P 0.616014 0.8383 0.545937 0.6524 0.8498 Uncertain 5_10250047_C->A 5 10250047 10250047 C A snp 570.77 1/1 45 17 0 17 1.0 upstream rs2607301 CCT5 AR Uncertain 5_10250430_G->A 5 10250430 10250430 G A snp 4934.77 1/1 99 186 0 186 1.0 UTR5 rs2548546 CCT5 AR 0.685304 0.879 0.712979 0.7889 0.8682 Uncertain 5_10250443_T->C 5 10250443 10250443 T C snp 4675.77 1/1 99 172 0 172 1.0 UTR5 rs2578618 CCT5 AR 0.685304 0.878 0.718053 0.7892 0.8685 Uncertain 5_10254817_A->G 5 10254817 10254817 A G snp 3935.77 1/1 99 148 0 148 1.0 exonic rs2578617 CCT5 AR synonymous SNV NM_012073 exon3 c.A198G p.G66G 0.685903 0.879 0.718668 0.7895 0.8697 Uncertain 5_10255021_T->C 5 10255021 10255021 T C snp 1770.77 1/1 99 63 0 63 1.0 intronic rs2607294 CCT5 AR NM_012073 exon3 c.4498+71T>C 0.685503 0.879 Uncertain 5_10255083_A->C 5 10255083 10255083 A C snp 367.77 1/1 30 10 0 10 1.0 intronic rs2578616 CCT5 AR NM_012073 exon3 c.4498+133A>C 0.685903 0.879 Uncertain 5_10256161_T->C 5 10256161 10256161 T C snp 3377.77 1/1 99 112 0 112 1.0 exonic rs1042392 CCT5 AR synonymous SNV NM_012073 exon4 c.T426C p.R142R 0.692492 0.8839 0.727357 0.7948 0.8777 Uncertain 5_10258125_G->A 5 10258125 10258125 G A snp 3052.77 1/1 99 110 0 110 1.0 intronic rs2457156 CCT5 AR NM_012073 exon5 c.7770-97G>A 0.685703 0.879 Uncertain 5_10261250_C->G 5 10261250 10261250 C G snp 50.74 1/1 6 2 0 2 1.0 intronic rs2607314 CCT5 AR NM_012073 exon7 c.10571+227C>G 0.685903 0.879 Uncertain 5_10261542_C->T 5 10261542 10261542 C T snp 3592.77 1/1 99 103 0 103 1.0 intronic rs2607327 CCT5 AR NM_012073 exon8 c.11219-129C>T 0.94389 0.8929 Uncertain 5_10261966_G->A 5 10261966 10261966 G A snp 1042.77 1/1 75 38 0 38 1.0 intronic rs2244717 CCT5 AR NM_012073 exon8 c.11405+109G>A 0.685903 0.879 0.8035 0.8765 Uncertain 5_10262740_C->A 5 10262740 10262740 C A snp 5907.77 1/1 99 226 0 226 1.0 intronic rs2578642 CCT5 AR NM_012073 exon9 c.12278+10C>A 0.685903 0.879 0.718668 0.7894 0.8695 Uncertain 5_10263452_GGAG->- 5 10263452 10263455 GGAG - indel 3983.73 1/1 99 102 0 102 1.0 intronic rs200292677 CCT5 AR NM_012073 exon10 c.12974+26_12974+29delGGAG 0.0007 0 Uncertain 5_10263460_G->A 5 10263460 10263460 G A snp 2110.77 1/1 99 72 2 70 0.97 intronic rs113061039 CCT5 AR NM_012073 exon10 c.12974+34G>A 0.0004 0 Uncertain 5_10263464_A->G 5 10263464 10263464 A G snp 2167.77 1/1 99 69 0 69 1.0 intronic rs9312725 CCT5 AR NM_012073 exon10 c.12974+38A>G 0.639887 0.2441 0.09 Uncertain 5_10263617_G->A 5 10263617 10263617 G A snp 56.74 1/1 6 2 0 2 1.0 intronic rs2244960 CCT5 AR NM_012073 exon10 c.12974+191G>A 0.685703 0.879 Uncertain 5_10264962_A->G 5 10264962 10264962 A G snp 1226.77 1/1 90 38 0 38 1.0 UTR3 rs544 CCT5 AR 0.685703 0.879 Uncertain 5_10417575_C->G 5 10417575 10417575 C G snp 230.77 0/1 99 32 22 10 0.31 intronic rs2934222 MARCH6 AU NM_005885 exon22 c.63506+59C>G 0.32488 0.6944 Uncertain 5_10417589_G->T 5 10417589 10417589 G T snp 701.77 1/1 51 24 0 24 1.0 intronic rs2967956 MARCH6 AU NM_005885 exon22 c.63506+73G>T 0.934305 1 Uncertain 5_10424022_C->T 5 10424022 10424022 C T snp 257.77 0/1 99 22 11 11 0.5 intronic rs1995214 MARCH6 AU NM_005885 exon23 c.69926+86C>T 0.32488 0.6964 Uncertain 5_10442496_T->C 5 10442496 10442496 T C snp 1291.77 1/1 96 34 0 34 1.0 intronic rs2567577 ROPN1L AU NM_001201466 exon2 c.131+86T>C 0.929313 1 Uncertain 5_10448247_G->A 5 10448247 10448247 G A snp 348.78 1/1 27 11 0 11 1.0 intronic rs1976360 ROPN1L AU NM_001201466 exon3 c.6092-124G>A 0.850439 1 Uncertain 5_10505467_A->G 5 10505467 10505467 A G snp 340.77 0/1 99 41 29 12 0.29 intergenic rs62362463 LOC101929412 AU 0.237819 0.2609 Uncertain 5_10505585_A->G 5 10505585 10505585 A G snp 2440.77 0/1 99 250 146 104 0.42 intergenic rs17816571 LOC101929412 AU 0.236621 0.2609 0.2731 0.2576 Uncertain 5_10505852_AAA->- 5 10505852 10505854 AAA - indel 303.73 0/1 61 20 3 17 0.85 intergenic rs373652829 LOC101929412 AU 0.407947 0.5119 Uncertain 5_10505913_T->G 5 10505913 10505913 T G snp 42.77 0/1 33 3 1 2 0.67 intergenic rs6874173 LOC101929412 AU Uncertain 5_10509069_C->T 5 10509069 10509069 C T snp 137.77 0/1 99 20 14 6 0.3 intergenic rs1392005 LOC101929412 AU 0.211861 0.2609 Uncertain 5_10564846_C->T 5 10564846 10564846 C T snp 637.77 1/1 45 28 0 28 1.0 exonic rs814576 ANKRD33B AU synonymous SNV NM_001164440 exon1 c.C267T p.L89L 0.964257 1 0.9881 1 Uncertain 5_10564870_C->T 5 10564870 10564870 C T snp 142.77 0/1 99 25 17 8 0.32 exonic rs117918201 ANKRD33B AU synonymous SNV NM_001164440 exon1 c.C291T p.N97N 0.00539137 0.0218 0.0023 0.0682 Uncertain 5_10624887_T->C 5 10624887 10624887 T C snp 1692.77 0/1 99 121 60 61 0.5 intronic rs1531839 ANKRD33B AU NM_001164440 exon2 c.53995+6313T>C 0.511382 0.6419 0.5573 0.695 Uncertain 5_10638180_T->C 5 10638180 10638180 T C snp 800.77 0/1 99 71 37 34 0.48 exonic rs11745612 ANKRD33B AU synonymous SNV NM_001164440 exon3 c.T537C p.P179P 0.371006 0.3194 0.430574 0.4437 0.3552 Uncertain 5_10638364_A->G 5 10638364 10638364 A G snp 550.77 0/1 99 52 26 26 0.5 intronic rs6889196 ANKRD33B AU NM_001164440 exon3 c.73701+84A>G 0.372404 0.3185 Uncertain 5_10649412_G->C 5 10649412 10649412 G C snp 613.77 0/1 99 54 27 27 0.5 exonic rs13174184 ANKRD33B AU synonymous SNV NM_001164440 exon4 c.G672C p.G224G 0.0798722 0.1746 0.0338 0.1116 Uncertain 5_10649784_G->A 5 10649784 10649784 G A snp 77.77 0/1 99 9 5 4 0.44 exonic rs113222960 ANKRD33B AU synonymous SNV NM_001164440 exon4 c.G1044A p.A348A 0.260184 0.2569 0.2764 0.2053 Uncertain 5_10650150_A->G 5 10650150 10650150 A G snp 601.77 0/1 99 56 27 29 0.52 exonic rs56969869 ANKRD33B AU synonymous SNV NM_001164440 exon4 c.A1410G p.A470A 0.307708 0.2569 0.344284 0.2798 0.2093 Uncertain 5_10650252_GGGGCT->- 5 10650252 10650257 GGGGCT - indel 822.73 0/1 99 30 15 15 0.5 UTR3 rs140897444 ANKRD33B AU 0.275359 0.2569 0.281528 0.2668 0.2073 Uncertain 5_10650324_T->G 5 10650324 10650324 T G snp 42.77 0/1 71 9 5 4 0.44 UTR3 rs13354827 ANKRD33B AU 0.307308 0.2569 Uncertain 5_10650325_T->G 5 10650325 10650325 T G snp 38.77 0/1 67 9 5 4 0.44 UTR3 rs13354828 ANKRD33B AU 0.307308 0.2569 Uncertain 5_10664999_C->G 5 10664999 10664999 C G snp 298.77 0/1 99 23 11 12 0.52 intergenic rs111384023 ANKRD33B AU 0.28115 0.2748 Uncertain 5_10665259_C->T 5 10665259 10665259 C T snp 231.77 0/1 99 14 6 8 0.57 intergenic rs11954194 ANKRD33B AU 0.28115 0.2748 Uncertain 5_10748231_C->T 5 10748231 10748231 C T snp 1156.77 0/1 99 110 61 49 0.45 intronic rs267944 DAP AU NM_004394 exon3 c.67119-55C>T 0.845048 0.6528 Uncertain 5_10748462_C->T 5 10748462 10748462 C T snp 759.77 0/1 99 64 34 30 0.47 intronic rs267943 DAP AU NM_004394 exon3 c.67216+79C>T 0.846645 0.6617 Uncertain 5_10761009_C->G 5 10761009 10761009 C G snp 46.77 0/1 72 5 2 3 0.6 intronic rs11740244 DAP AU NM_004394 exon4 c.79958-116C>G 0.464856 0.3294 Uncertain 5_10761182_A->G 5 10761182 10761182 A G snp 1399.77 1/1 99 55 0 55 1.0 UTR5 rs267927 DAP AU 0.883586 0.6677 0.991511 0.9392 0.6491 Uncertain 5_10986581_A->C 5 10986581 10986581 A C snp 40.77 0/1 33 4 1 3 0.75 intronic rs17772741 CTNND2 AU NM_001332 exon3 c.14658-1641A>C 0.378594 0.4444 Uncertain 5_10986684_G->C 5 10986684 10986684 G C snp 590.77 0/1 99 48 23 25 0.52 intronic rs12515637 CTNND2 AU NM_001332 exon3 c.14658-1538G>C 0.353035 0.4444 Uncertain 5_10986722_-->G 5 10986722 10986722 - G indel 775.73 0/1 99 64 34 30 0.47 intronic rs36031475 CTNND2 AU NM_001332 exon3 c.14658-1500insG 0.377995 0.4444 Uncertain 5_10986727_A->G 5 10986727 10986727 A G snp 699.77 0/1 99 64 35 29 0.45 intronic rs35210570 CTNND2 AU NM_001332 exon3 c.14658-1495A>G 0.378395 0.4435 Uncertain 5_10986772_G->A 5 10986772 10986772 G A snp 782.77 0/1 99 69 34 35 0.51 intronic rs9312749 CTNND2 AU NM_001332 exon3 c.14658-1450G>A 0.375998 0.4435 0.2848 0.4328 Uncertain 5_10986947_C->T 5 10986947 10986947 C T snp 213.77 0/1 99 18 9 9 0.5 intronic rs10434650 CTNND2 AU NM_001332 exon3 c.14658-1275C>T 0.378794 0.4444 Uncertain 5_10988172_T->C 5 10988172 10988172 T C snp 569.77 0/1 99 33 12 21 0.64 intronic rs879353 CTNND2 AU NM_001332 exon3 c.14658-50T>C 0.360224 0.3671 0.409657 0.3523 0.3845 Uncertain 5_10992983_G->C 5 10992983 10992983 G C snp 318.77 0/1 99 21 11 10 0.48 intronic rs4701903 CTNND2 AU NM_001332 exon4 c.19225+194G>C 0.417332 0.4435 Uncertain 5_11082612_A->G 5 11082612 11082612 A G snp 113.78 0/1 27 5 1 4 0.8 intronic rs11749459 CTNND2 AU NM_001332 exon7 c.109243-195A>G 0.0626997 0.0208 Uncertain 5_11082762_T->C 5 11082762 11082762 T C snp 5109.77 1/1 99 184 0 184 1.0 intronic rs2277053 CTNND2 AU NM_001332 exon7 c.109243-45T>C 0.826278 0.9325 0.785330 0.7381 0.9248 Uncertain 5_11084189_T->C 5 11084189 11084189 T C snp 1675.77 1/1 99 59 0 59 1.0 intronic rs1024621 CTNND2 AU NM_001332 exon7 c.109394+1231T>C 0.824681 0.9296 Uncertain 5_11098987_C->T 5 11098987 11098987 C T snp 1400.77 0/1 99 96 43 53 0.55 intronic rs2301851 CTNND2 AU NM_001332 exon8 c.125296+127C>T 0.195687 0.3591 Uncertain 5_11159657_T->C 5 11159657 11159657 T C snp 280.77 0/1 99 25 16 9 0.36 intronic rs1990003 CTNND2 AU NM_001332 exon11 c.186123-30T>C 0.426572 0.5102 0.4333 Uncertain 5_11365166_C->T 5 11365166 11365166 C T snp 225.77 0/1 99 12 4 8 0.67 intronic rs2074260 CTNND2 AU NM_001332 exon15 c.391438+164C>T 0.39996 0.3006 Uncertain 5_11412302_C->T 5 11412302 11412302 C T snp 923.77 1/1 66 32 0 32 1.0 intronic rs31750 CTNND2 AU NM_001332 exon19 c.438617+121C>T 1 1 Uncertain 5_11564995_A->G 5 11564995 11564995 A G snp 3056.77 0/1 99 241 116 125 0.52 intronic rs7719578 CTNND2 AU NM_001332 exon20 c.591491-60A>G 0.499002 0.498 Uncertain 5_13701167_A->G 5 13701167 13701167 A G snp 56.74 1/1 6 2 0 2 1.0 intronic rs6883283 DNAH5 AU NM_001369 exon2 c.8888+187A>G 0.530751 0.5565 Uncertain 5_13717471_T->C 5 13717471 13717471 T C snp 1209.77 1/1 87 41 0 41 1.0 exonic rs2277046 DNAH5 AU nonsynonymous SNV NM_001369 exon73 c.A12658G p.T4220A 0.158946 0.3601 0.059819 0.1406 0.3915 0.02 T 1.000 P -0.914 T 0.008 T 0.06 T CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000155501.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 5_13729714_A->G 5 13729714 13729714 A G snp 915.77 1/1 66 31 0 31 1.0 intronic rs3777093 DNAH5 AU NM_001369 exon11 c.37577+45A>G 0.597644 0.6091 0.593431 0.6024 0.6463 Uncertain 5_13735892_T->C 5 13735892 13735892 T C snp 1738.77 1/1 99 67 0 67 1.0 intronic rs3734109 DNAH5 AU NM_001369 exon13 c.43834-34T>C 0.555911 0.5595 0.559357 0.5721 0.5873 Uncertain 5_13737700_A->G 5 13737700 13737700 A G snp 419.77 1/1 33 12 0 12 1.0 intronic rs2401811 DNAH5 AU NM_001369 exon14 c.45512+96A>G 0.650359 0.5605 Uncertain 5_13762713_T->C 5 13762713 13762713 T C snp 463.77 1/1 36 13 0 13 1.0 intronic rs11742383 DNAH5 AU NM_001369 exon20 c.70738-117T>C 0.211062 0.2371 Uncertain 5_13793711_G->A 5 13793711 13793711 G A snp 1852.77 0/1 99 173 89 84 0.49 exonic rs111912673 DNAH5 AU nonsynonymous SNV NM_001369 exon49 c.C8137T p.R2713C 0.00179712 0.001384 0.0004 0.0001 0 D 1 D 0.176 D 1.0 D 1.0 D Pathogenic 5_13810529_C->G 5 13810529 13810529 C G snp 224.84 1/1 18 6 0 6 1.0 intronic rs31238 DNAH5 AU NM_001369 exon35 c.118277+160C>G 0.820288 0.9167 Uncertain 5_13817984_T->C 5 13817984 13817984 T C snp 210.84 1/1 18 6 0 6 1.0 intronic rs795540 DNAH5 AU NM_001369 exon38 c.125711+181T>C 0.294129 0.251 Uncertain 5_13850651_T->C 5 13850651 13850651 T C snp 259.77 0/1 99 14 5 9 0.64 intronic rs795528 DNAH5 AU NM_001369 exon49 c.158668-109T>C 0.399561 0.3046 Uncertain 5_13850739_T->A 5 13850739 13850739 T A snp 356.77 0/1 99 42 24 18 0.43 intronic rs4701988 DNAH5 AU NM_001369 exon49 c.158668-21T>A 0.357029 0.5744 0.334461 0.3818 0.5927 Uncertain 5_13850750_A->G 5 13850750 13850750 A G snp 750.77 0/1 99 45 18 27 0.6 intronic rs6554820 DNAH5 AU NM_001369 exon49 c.158668-10A>G 0.341853 0.2708 0.378056 0.3918 0.2415 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000150481.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 5_13851016_C->T 5 13851016 13851016 C T snp 163.77 0/1 97 10 3 7 0.7 intronic rs795526 DNAH5 AU NM_001369 exon49 c.158832+92C>T 0.399561 0.3046 Uncertain 5_13859424_G->A 5 13859424 13859424 G A snp 100.77 0/1 64 6 2 4 0.67 intronic rs1900161 DNAH5 AU NM_001369 exon50 c.167468-136G>A 0.340855 0.2688 Uncertain 5_13859743_G->T 5 13859743 13859743 G T snp 1593.77 0/1 99 115 60 55 0.48 intronic rs1502043 DNAH5 AU NM_001369 exon50 c.167622+29G>T 0.330871 0.2629 0.357374 0.3830 0.2393 Uncertain 5_13859807_G->T 5 13859807 13859807 G T snp 712.77 1/1 54 19 0 19 1.0 intronic rs1867677 DNAH5 AU NM_001369 exon50 c.167622+93G>T 0.953474 0.9613 Uncertain 5_13862600_T->G 5 13862600 13862600 T G snp 546.77 0/1 99 58 36 22 0.38 intronic rs7724453 DNAH5 AU NM_001369 exon51 c.170564-56T>G 0.36861 0.2649 Uncertain 5_13862616_C->T 5 13862616 13862616 C T snp 708.77 0/1 99 79 49 30 0.38 intronic rs7704417 DNAH5 AU NM_001369 exon51 c.170564-40C>T 0.368411 0.2649 0.399185 0.3938 0.2401 Uncertain 5_13864728_C->A 5 13864728 13864728 C A snp 1230.77 0/1 99 121 71 50 0.41 exonic rs6554827 DNAH5 AU synonymous SNV NM_001369 exon28 c.G4374T p.R1458R 0.399277 0.4082 0.2402 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000155510.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 5_13864885_G->A 5 13864885 13864885 G A snp 108.77 0/1 99 10 6 4 0.4 intronic rs6554828 DNAH5 AU NM_001369 exon52 c.172654+139G>A 0.374601 0.2619 Uncertain 5_13865717_A->G 5 13865717 13865717 A G snp 301.77 0/1 99 36 22 14 0.39 intronic rs7720415 DNAH5 AU NM_001369 exon53 c.173684-59A>G 0.46885 0.3323 Uncertain 5_13865980_T->C 5 13865980 13865980 T C snp 295.77 0/1 99 26 14 12 0.46 exonic rs7703349 DNAH5 AU synonymous SNV NM_001369 exon27 c.A4152G p.T1384T 0.46865 0.3323 0.501694 0.4627 0.3252 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000155511.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 5_13866450_A->G 5 13866450 13866450 A G snp 357.77 0/1 99 28 12 16 0.57 intronic rs11748811 DNAH5 AU NM_001369 exon54 c.174299+59A>G 0.349241 0.2639 0.395221 Uncertain 5_13868104_A->- 5 13868104 13868104 A - indel 411.73 0/1 99 37 16 21 0.57 splicing rs35398031 DNAH5 AU NM_001369 exon55 c.176009+3delA 0.348243 0.2659 0.397860 0.4310 0.2627 Pathogenic 5_13871314_C->T 5 13871314 13871314 C T snp 93.28 1/1 9 3 0 3 1.0 intronic rs1445809 DNAH5 AU NM_001369 exon56 c.179019+203C>T 0.803514 0.875 Uncertain 5_13871547_T->C 5 13871547 13871547 T C snp 43.77 0/1 66 4 2 2 0.5 intronic rs1445807 DNAH5 AU NM_001369 exon57 c.179580-125T>C 0.363219 0.2629 Uncertain 5_13871925_A->G 5 13871925 13871925 A G snp 243.77 0/1 99 18 7 11 0.61 intronic rs10513159 DNAH5 AU NM_001369 exon57 c.179782+51A>G 0.381789 0.2629 0.424900 0.4204 0.2445 Uncertain 5_13876605_T->C 5 13876605 13876605 T C snp 222.84 1/1 18 6 0 6 1.0 intronic rs1445805 DNAH5 AU NM_001369 exon58 c.184700-187T>C 0.992612 1 Uncertain 5_13876664_T->C 5 13876664 13876664 T C snp 1353.77 1/1 96 45 0 45 1.0 intronic rs1445804 DNAH5 AU NM_001369 exon58 c.184700-128T>C 0.878994 0.9454 Uncertain 5_13882958_C->T 5 13882958 13882958 C T snp 3449.77 0/1 99 250 123 127 0.51 intronic rs13170062 DNAH5 AU NM_001369 exon59 c.190832+34C>T 0.315695 0.5754 0.254267 0.3077 0.5929 Uncertain 5_13883262_C->G 5 13883262 13883262 C G snp 612.77 0/1 99 53 30 23 0.43 intronic rs10462710 DNAH5 AU NM_001369 exon60 c.191111+59C>G 0.44389 0.7232 Uncertain 5_13894894_T->A 5 13894894 13894894 T A snp 3130.77 0/1 99 249 113 136 0.55 exonic rs4701997 DNAH5 AU nonsynonymous SNV NM_001369 exon16 c.A2296T p.I766L 0.487819 0.249 0.516454 0.5073 0.2434 0.59 T 0.800 P -0.929 T 0.001 T 0.032 T CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000155513.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 5_13900345_A->G 5 13900345 13900345 A G snp 1492.77 0/1 99 142 72 70 0.49 exonic rs1445823 DNAH5 AU synonymous SNV NM_001369 exon15 c.T2229C p.D743D 0.601238 0.8661 0.522144 0.5015 0.8929 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000155515.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 5_13902220_T->C 5 13902220 13902220 T C snp 891.77 0/1 99 61 22 39 0.64 exonic rs1530498 DNAH5 AU nonsynonymous SNV NM_001369 exon13 c.A1672G p.T558A 0.388379 0.7579 0.331999 0.4186 0.7634 0.9 T 1.000 P -0.934 T 0.002 T 0.016 T CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000150488.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 5_13902443_T->C 5 13902443 13902443 T C snp 46.74 1/1 6 2 0 2 1.0 intronic rs11746377 DNAH5 AU NM_001369 exon67 c.210155+196T>C 0.234026 0.0903 Uncertain 5_13911405_G->T 5 13911405 13911405 G T snp 674.77 0/1 99 86 56 30 0.35 intronic rs3765045 DNAH5 AU NM_001369 exon68 c.219402-89G>T 0.297324 0.1915 Uncertain 5_13913885_A->G 5 13913885 13913885 A G snp 2038.77 0/1 99 172 83 89 0.52 exonic rs3213936 DNAH5 AU synonymous SNV NM_001369 exon11 c.T1503C p.I501I 0.528754 0.8492 0.429648 0.4220 0.8619 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000150489.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 5_13914120_T->C 5 13914120 13914120 T C snp 234.84 0/1 18 9 1 8 0.89 intronic rs10513162 DNAH5 AU NM_001369 exon69 c.221975+53T>C 0.528954 0.8492 Uncertain 5_13914775_G->T 5 13914775 13914775 G T snp 284.77 0/1 99 25 10 15 0.6 intronic rs13180591 DNAH5 AU NM_001369 exon70 c.222659+24G>T 0.528754 0.8492 0.427791 0.4216 0.8615 Uncertain 5_13914796_T->C 5 13914796 13914796 T C snp 241.77 0/1 99 19 7 12 0.63 intronic rs13162553 DNAH5 AU NM_001369 exon70 c.222659+45T>C 0.528554 0.8482 0.427154 0.4210 0.8610 Uncertain 5_13914819_G->A 5 13914819 13914819 G A snp 194.77 0/1 99 16 6 10 0.63 intronic rs13180613 DNAH5 AU NM_001369 exon70 c.222659+68G>A 0.528754 0.8492 Uncertain 5_13916302_C->A 5 13916302 13916302 C A snp 74.77 0/1 99 10 6 4 0.4 intronic rs11750882 DNAH5 AU NM_001369 exon71 c.224364-154C>A 0.530551 0.8492 Uncertain 5_13916528_C->A 5 13916528 13916528 C A snp 264.77 0/1 99 43 28 15 0.35 exonic rs201469505 DNAH5 AU nonsynonymous SNV NM_001369 exon9 c.G1126T p.A376S 0.000399361 0.002 0.000077 0.0010 0.0109 0.18 T 1 D -0.914 T 0.106 T 0.206 T Pathogenic 5_13917111_A->G 5 13917111 13917111 A G snp 129.03 1/1 12 4 0 4 1.0 intronic rs72735065 DNAH5 AU NM_001369 exon72 c.225159-140A>G 0.203275 0.0903 Uncertain 5_13919255_T->G 5 13919255 13919255 T G snp 664.77 0/1 99 63 33 30 0.48 intronic rs35925547 DNAH5 AU NM_001369 exon73 c.227192-29T>G 0.195887 0.0903 0.220052 0.2586 0.0803 Uncertain 5_13928085_T->C 5 13928085 13928085 T C snp 1063.77 0/1 99 84 43 41 0.49 intronic rs12659700 DNAH5 AU NM_001369 exon77 c.236110-117T>C 0.774561 0.8968 Uncertain 5_13931080_C->G 5 13931080 13931080 C G snp 283.77 0/1 99 19 10 9 0.47 intronic rs189119473 DNAH5 AU NM_001369 exon78 c.239126-138C>G 0.000798722 0.004 Uncertain 5_13931205_G->C 5 13931205 13931205 G C snp 1713.77 0/1 99 153 83 70 0.46 intronic rs1530497 DNAH5 AU NM_001369 exon78 c.239126-13G>C 0.513578 0.6915 0.405736 0.3732 0.7009 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000150492.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 5_13931307_G->A 5 13931307 13931307 G A snp 1521.77 0/1 99 130 66 64 0.49 exonic rs371414060 DNAH5 AU nonsynonymous SNV NM_001369 exon2 c.C104T p.A35V 0.000077 3.296e-05 0 0.32 T 0.999 N -1.039 T 0.197 T 0.082 T Pathogenic 5_13931340_C->T 5 13931340 13931340 C T snp 1254.77 0/1 99 100 49 51 0.51 exonic rs1530496 DNAH5 AU nonsynonymous SNV NM_001369 exon2 c.G71A p.G24E 0.500599 0.7014 0.390512 0.3691 0.7055 1 T 0.002 P -0.943 T 0.0 T 0.0 T CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000150490.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 5_13944512_A->C 5 13944512 13944512 A C snp 2190.77 1/1 99 88 0 88 1.0 exonic rs339445 DNAH5 AU nonsynonymous SNV NM_001369 exon1 c.T36G p.H12Q 0.912939 0.8899 0.925573 0.9358 0.8855 1 T 0.000 P -0.982 T 0.0 T 0.0 T CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000155520.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 5_14183866_T->C 5 14183866 14183866 T C snp 272.8 1/1 21 9 0 9 1.0 intronic rs354302 TRIO AD NM_007118 exon1 c.157+39875T>C 0.861821 0.9871 Uncertain 5_14183980_AG->- 5 14183980 14183981 AG - indel 1515.73 1/1 90 31 0 31 1.0 intronic rs35336099 TRIO AD NM_007118 exon1 c.157+39989_157+39990delAG 0.8125 0.9881 Uncertain 5_14184022_G->A 5 14184022 14184022 G A snp 1444.77 1/1 99 47 0 47 1.0 intronic rs354301 TRIO AD NM_007118 exon1 c.157+40031G>A 0.8125 0.9881 0.8175 0.9848 Uncertain 5_14184079_G->A 5 14184079 14184079 G A snp 2102.77 1/1 99 75 0 75 1.0 intronic rs354300 TRIO AD NM_007118 exon1 c.157+40088G>A 0.8127 0.9881 0.8173 0.9848 Uncertain 5_14184116_C->T 5 14184116 14184116 C T snp 990.77 0/1 99 89 47 42 0.47 intronic rs16903264 TRIO AD NM_007118 exon1 c.157+40125C>T 0.238019 0.4345 0.2643 0.4091 Uncertain 5_14184211_T->C 5 14184211 14184211 T C snp 1415.77 1/1 99 44 0 44 1.0 intronic rs354299 TRIO AD NM_007118 exon1 c.157+40220T>C 0.86222 0.9881 Uncertain 5_14184254_A->G 5 14184254 14184254 A G snp 756.77 1/1 57 22 0 22 1.0 intronic rs354298 TRIO AD NM_007118 exon1 c.157+40263A>G 0.8125 0.9881 Uncertain 5_14271132_G->A 5 14271132 14271132 G A snp 37.77 0/1 66 8 5 3 0.38 intronic rs183623782 TRIO AD NM_007118 exon2 c.127174+124G>A 0.000399361 0.002 Uncertain 5_14290805_G->A 5 14290805 14290805 G A snp 1823.77 0/1 99 163 90 73 0.45 intronic rs30629 TRIO AD NM_007118 exon5 c.146990-19G>A 0.410743 0.5645 0.441873 0.5072 0.5651 Uncertain 5_14366840_T->C 5 14366840 14366840 T C snp 1227.77 1/1 90 35 0 35 1.0 intronic rs30784 TRIO AD NM_007118 exon16 c.223134-128T>C 0.817891 0.7282 Uncertain 5_14377962_A->C 5 14377962 14377962 A C snp 209.84 1/1 18 6 0 6 1.0 intronic rs30769 TRIO AD NM_007118 exon20 c.234286-158A>C Uncertain 5_14378068_T->G 5 14378068 14378068 T G snp 1102.77 0/1 99 87 39 48 0.55 intronic rs30770 TRIO AD NM_007118 exon20 c.234286-52T>G 0.824281 0.7371 Uncertain 5_14381174_C->T 5 14381174 14381174 C T snp 666.77 0/1 99 41 14 27 0.66 intronic rs247137 TRIO AD NM_007118 exon21 c.237404-64C>T 0.248203 0.1438 Uncertain 5_14387489_G->C 5 14387489 14387489 G C snp 2053.77 0/1 99 172 85 87 0.51 intronic rs30794 TRIO AD NM_007118 exon22 c.243712-57G>C 0.45607 0.1458 Uncertain 5_14420027_A->C 5 14420027 14420027 A C snp 2439.77 0/1 99 195 99 96 0.49 exonic rs30612 TRIO AD synonymous SNV NM_007118 exon34 c.A5100C p.T1700T 0.81869 0.6984 0.895971 0.8298 0.7022 Uncertain 5_14462816_C->T 5 14462816 14462816 C T snp 933.77 0/1 99 77 36 41 0.53 intronic rs27100 TRIO AD NM_007118 exon36 c.319029-47C>T 0.501198 0.1935 0.544825 0.4190 0.1764 Uncertain 5_14472626_T->C 5 14472626 14472626 T C snp 1832.77 1/1 99 58 0 58 1.0 intronic rs26186 TRIO AD NM_007118 exon39 c.328866-74T>C 0.966054 1 Uncertain 5_14479938_G->A 5 14479938 14479938 G A snp 2944.77 1/1 99 106 0 106 1.0 intronic rs26173 TRIO AD NM_007118 exon43 c.336193-89G>A 0.833466 0.8502 Uncertain 5_14481271_A->- 5 14481271 14481271 A - indel 948.73 0/1 99 52 13 39 0.75 intronic rs111593684 TRIO AD NM_007118 exon44 c.337508-71delA 0.283546 0.1647 0.308098 Uncertain 5_14507930_A->G 5 14507930 14507930 A G snp 194.77 0/1 99 12 5 7 0.58 intronic rs189952102 TRIO AD NM_007118 exon57 c.364154-58A>G 0.00159744 0.0079 Uncertain 5_14610184_C->G 5 14610184 14610184 C G snp 1774.77 1/1 99 63 0 63 1.0 intronic rs25960 FAM105A AU NM_019018 exon8 c.28246-65C>G 0.683706 0.8026 Uncertain 5_14664821_G->A 5 14664821 14664821 G A snp 978.77 1/1 72 33 0 33 1.0 UTR5 rs250435 OTULIN AR 0.906949 0.8194 Uncertain 5_14673696_C->T 5 14673696 14673696 C T snp 2310.77 0/1 99 193 94 99 0.51 intronic rs16903631 OTULIN AR NM_138348 exon2 c.8816-54C>T 0.173722 0.4127 0.098336 Uncertain 5_14678996_G->A 5 14678996 14678996 G A snp 419.77 1/1 33 11 0 11 1.0 intronic rs31930 OTULIN AR NM_138348 exon3 c.13950+112G>A 0.918131 0.7927 Uncertain 5_14751399_C->T 5 14751399 14751399 C T snp 441.53 0/1 3 14 1 13 0.93 intronic rs697570 ANKH AD NM_054027 exon8 c.40043+51C>T 0.582668 0.2976 0.586037 0.5454 0.2880 Uncertain 5_14871621_GGGGCGAC->- 5 14871621 14871628 GGGGCGAC - indel 758.73 0/1 99 26 5 21 0.81 UTR5 rs139106733 ANKH AD 0.39976 0.2966 Uncertain 5_15616203_TCTC->- 5 15616203 15616206 TCTC - indel 1966.73 0/1 99 61 29 32 0.52 intronic rs3032721 FBXL7 AU NM_012304 exon2 c.115396+22_115396+25delTCTC 0.120807 0.3542 0.042233 0.0510 0.3798 Uncertain 5_15927905_-->AGAC 5 15927905 15927905 - AGAC indel 1101.73 0/1 99 32 14 18 0.56 intronic rs376706783 FBXL7 AU NM_012304 exon3 c.427213-93insAGAC Uncertain 5_16091242_-->A 5 16091242 16091242 - A indel 137.8 1/1 18 9 0 9 1.0 intronic rs11389357 MARCH11 AU NM_001102562 exon2 c.23611+52insA Uncertain 5_16177716_T->C 5 16177716 16177716 T C snp 48.74 1/1 6 2 0 2 1.0 intronic rs342548 MARCH11 AU NM_001102562 exon3 c.110255-118T>C 0.73123 0.9117 Uncertain 5_16177807_A->G 5 16177807 16177807 A G snp 2921.77 1/1 99 90 0 90 1.0 intronic rs2582666 MARCH11 AU NM_001102562 exon3 c.110255-27A>G 0.644768 0.9117 0.645586 0.7063 0.9096 Uncertain 5_16179125_C->T 5 16179125 16179125 C T snp 661.77 1/1 48 26 0 26 1.0 intronic rs342550 MARCH11 AU NM_001102562 exon4 c.111568-22C>T 0.64357 0.9117 0.6821 0.9107 Uncertain 5_16477751_C->A 5 16477751 16477751 C A snp 556.77 0/1 99 58 36 22 0.38 intronic rs162850 FAM134B AR NM_001034850 exon2 c.2921-19C>A 0.677117 0.5526 0.730821 0.6625 0.5241 Uncertain 5_16478120_A->G 5 16478120 16478120 A G snp 338.77 0/1 99 48 31 17 0.35 intronic rs162849 FAM134B AR NM_001034850 exon3 c.3293-22A>G 0.335463 0.2302 0.432788 0.4116 0.2618 Uncertain 5_16478200_G->A 5 16478200 16478200 G A snp 453.77 0/1 99 47 29 18 0.38 exonic rs162848 FAM134B AR synonymous SNV NM_001034850 exon7 c.C816T p.D272D 0.677516 0.5526 0.730632 0.6661 0.5290 Uncertain 5_16479220_A->G 5 16479220 16479220 A G snp 86.78 0/1 24 4 1 3 0.75 intronic rs33692 FAM134B AR NM_001034850 exon4 c.4247+124A>G 0.679712 0.5565 Uncertain 5_16508674_A->G 5 16508674 16508674 A G snp 972.77 0/1 99 89 51 38 0.43 intronic rs332811 FAM134B AR NM_019000 exon7 c.33837-12A>G 0.495407 0.4077 0.583319 0.5585 0.3611 Uncertain 5_16508898_T->C 5 16508898 16508898 T C snp 874.77 0/1 99 61 30 31 0.51 intronic rs33684 FAM134B AR NM_019000 exon7 c.34258-209T>C 0.543131 0.5357 Uncertain 5_16617099_A->G 5 16617099 16617099 A G snp 388.77 1/1 30 12 0 12 1.0 ncRNA_intronic rs35003 LOC101929524 AU 0.839457 0.8552 0.8588 0.8974 Uncertain 5_16667003_C->T 5 16667003 16667003 C T snp 3094.77 1/1 99 102 0 102 1.0 intronic rs26743 MYO10 AU NM_012334 exon1 c.102+101C>T 0.997204 1 Uncertain 5_16667065_C->G 5 16667065 16667065 C G snp 227.77 0/1 99 22 14 8 0.36 intronic rs33273 MYO10 AU NM_012334 exon1 c.102+163C>G Uncertain 5_16668256_A->G 5 16668256 16668256 A G snp 719.77 0/1 99 60 35 25 0.42 intronic rs35579 MYO10 AU NM_012334 exon2 c.1585-129A>G 0.442692 0.4504 Uncertain 5_16673975_C->G 5 16673975 16673975 C G snp 4559.77 1/1 99 165 0 165 1.0 exonic rs25901 MYO10 AU nonsynonymous SNV NM_012334 exon36 c.G4988C p.S1663T 0.823682 0.7708 0.752667 0.7407 0.7753 1 T 0.003 P -0.921 T 0.001 T 0.006 T Pathogenic 5_16679966_C->T 5 16679966 16679966 C T snp 1731.77 1/1 99 63 0 63 1.0 intronic rs35580 MYO10 AU NM_012334 exon9 c.13255-89C>T 0.620208 0.4861 Uncertain 5_16684143_A->T 5 16684143 16684143 A T snp 1725.77 1/1 99 62 0 62 1.0 intronic rs26315 MYO10 AU NM_012334 exon12 c.17244+99A>T 0.185104 0.2788 Uncertain 5_16694349_T->C 5 16694349 16694349 T C snp 174.9 1/1 15 5 0 5 1.0 intronic rs25911 MYO10 AU NM_012334 exon15 c.27679-130T>C 0.535942 0.5109 Uncertain 5_16711366_A->- 5 16711366 16711366 A - indel 2028.73 1/1 99 77 0 77 1.0 intronic rs3214558 MYO10 AU NM_012334 exon22 c.44554+12delA 0.702077 0.7788 0.7816 0.8136 Uncertain 5_16711451_G->T 5 16711451 16711451 G T snp 730.77 1/1 54 25 0 25 1.0 intronic rs27552 MYO10 AU NM_012334 exon22 c.44554+97G>T 0.696086 0.7798 Uncertain 5_16762646_T->C 5 16762646 16762646 T C snp 1998.77 1/1 99 82 1 81 0.99 intronic rs31511 MYO10 AU NM_012334 exon27 c.95853-7T>C 0.888578 0.7817 0.965354 0.9391 0.8006 Uncertain 5_16764256_A->- 5 16764256 16764256 A - indel 1039.73 1/1 99 37 0 37 1.0 intronic rs375881422 MYO10 AU NM_012334 exon30 c.97558-102delA 0.815495 0.7728 Uncertain 5_16766093_C->T 5 16766093 16766093 C T snp 1767.77 1/1 99 61 0 61 1.0 intronic rs2561232 MYO10 AU NM_012334 exon31 c.99388-95C>T 0.90655 0.7778 Uncertain 5_16769273_G->A 5 16769273 16769273 G A snp 1844.77 1/1 99 76 1 75 0.99 exonic rs11750538 MYO10 AU nonsynonymous SNV NM_012334 exon10 c.C970T p.R324W 0.48123 0.5357 0.531627 0.5558 0.5736 0.12 T 1.000 P -0.928 T 0.989 D 0.72 D Pathogenic 5_16783327_A->G 5 16783327 16783327 A G snp 261.8 1/1 21 7 0 7 1.0 intronic rs1560089 MYO10 AU NM_012334 exon37 c.116643-116A>G 0.47484 0.5546 Uncertain 5_16783711_T->C 5 16783711 16783711 T C snp 442.77 0/1 99 24 10 14 0.58 intronic rs4702172 MYO10 AU NM_012334 exon37 c.116778+133T>C 0.436102 0.4296 Uncertain 5_16794780_G->A 5 16794780 16794780 G A snp 562.77 0/1 99 50 26 24 0.48 exonic rs7737765 MYO10 AU nonsynonymous SNV NM_012334 exon4 c.C442T p.H148Y 0.193291 0.1845 0.148082 0.1503 0.2050 0.03 T 1.0 P -1.146 T 0.641 T 0.447 P Pathogenic 5_16795012_C->T 5 16795012 16795012 C T snp 779.77 0/1 99 77 46 31 0.4 intronic rs7737850 MYO10 AU NM_012334 exon38 c.128142+70C>T 0.192292 0.1845 Uncertain 5_16795073_C->G 5 16795073 16795073 C G snp 237.77 0/1 99 35 23 12 0.34 intronic rs7737987 MYO10 AU NM_012334 exon38 c.128142+131C>G 0.192292 0.1845 Uncertain 5_16815530_G->C 5 16815530 16815530 G C snp 306.77 0/1 99 35 19 16 0.46 intronic rs60498681 MYO10 AU NM_012334 exon39 c.151317-2587G>C 0.17492 0.2044 0.2373 0.2879 Uncertain 5_16818363_A->G 5 16818363 16818363 A G snp 249.77 0/1 99 27 17 10 0.37 intronic rs12188582 MYO10 AU NM_012334 exon39 c.151476+87A>G 0.705072 0.744 Uncertain 5_16916072_AA->- 5 16916072 16916073 AA - indel 220.73 0/1 99 17 6 11 0.65 intronic rs145081788 MYO10 AU NM_012334 exon41 c.269096-19824_269096-19823delAA Uncertain 5_19473195_A->T 5 19473195 19473195 A T snp 125.77 0/1 99 20 15 5 0.25 UTR3 CDH18 AU Uncertain 5_19503025_A->G 5 19503025 19503025 A G snp 1654.77 0/1 99 133 67 66 0.5 intronic rs530739640 CDH18 AU NM_004934 exon3 c.29766-75A>G 0.000199681 0.001 0.0003 0.0033 1 N -1.003 T Uncertain 5_19520932_T->C 5 19520932 19520932 T C snp 1812.77 0/1 99 167 87 80 0.48 intronic rs441865 CDH18 AU NM_004934 exon4 c.47553+45T>C 0.369609 0.3095 0.402968 0.4086 0.3013 Uncertain 5_19721261_T->C 5 19721261 19721261 T C snp 133.03 1/1 12 4 0 4 1.0 intronic rs10941430 CDH18 AU NM_004934 exon9 c.248121-194T>C 0.886382 0.995 Uncertain 5_19721490_T->C 5 19721490 19721490 T C snp 5210.77 1/1 99 199 0 199 1.0 exonic rs12187552 CDH18 AU synonymous SNV NM_004934 exon5 c.A609G p.Q203Q 0.963658 1 0.957942 0.9887 1 Uncertain 5_21121275_G->C 5 21121275 21121275 G C snp 1689.77 0/1 99 142 67 75 0.53 intergenic rs248205 CDH18 AU 0.369409 0.5179 0.243286 0.3247 0.5878 Uncertain 5_21751719_GTGT->- 5 21751719 21751722 GTGT - indel 723.73 0/1 99 18 5 13 0.72 UTR3 rs138590711 CDH12 AU Uncertain 5_21751729_G->T 5 21751729 21751729 G T snp 205.77 0/1 99 33 22 11 0.33 UTR3 CDH12 AU Uncertain 5_21751741_T->G 5 21751741 21751741 T G snp 319.77 0/1 99 38 23 15 0.39 UTR3 rs10657806 CDH12 AU Uncertain 5_21752050_A->G 5 21752050 21752050 A G snp 1819.77 0/1 99 189 111 78 0.41 exonic rs6451992 CDH12 AU synonymous SNV NM_004061 exon15 c.T2181C p.D727D 0.548722 0.4355 0.640704 0.6569 0.4593 Uncertain 5_21752056_A->G 5 21752056 21752056 A G snp 1906.77 0/1 99 186 108 78 0.42 exonic rs6451993 CDH12 AU synonymous SNV NM_004061 exon15 c.T2175C p.D725D 0.549121 0.4365 0.640704 0.6577 0.4591 Uncertain 5_21760602_C->A 5 21760602 21760602 C A snp 461.77 0/1 99 32 17 15 0.47 intronic rs2303748 CDH12 AU NM_004061 exon3 c.8821-64C>A 0.507788 0.4097 Uncertain 5_23510203_A->G 5 23510203 23510203 A G snp 374.77 1/1 30 11 0 11 1.0 intronic rs2973615 PRDM9 AU NM_020227 exon4 c.994+67A>G 0.933906 0.8204 Uncertain 5_23523348_C->T 5 23523348 23523348 C T snp 6251.77 1/1 99 232 0 232 1.0 intronic rs1874165 PRDM9 AU NM_020227 exon9 c.14257-51C>T 0.795927 0.7728 0.840388 Uncertain 5_23527919_A->G 5 23527919 23527919 A G snp 1560.77 1/1 99 53 0 53 1.0 UTR3 rs2099081 PRDM9 AU 0.934105 0.8204 0.961660 0.9596 0.8182 Uncertain 5_23975952_G->C 5 23975952 23975952 G C snp 228.77 0/1 99 14 6 8 0.57 intergenic rs10037197 PRDM9 AU 0.544329 0.4137 Uncertain 5_23976115_G->A 5 23976115 23976115 G A snp 1582.77 0/1 99 170 94 76 0.45 intergenic rs1501940 PRDM9 AU 0.486222 0.372 0.6244 0.3065 0 D 0.0 P -0.928 T Uncertain 5_24509643_C->T 5 24509643 24509643 C T snp 1576.77 0/1 99 130 64 66 0.51 intronic rs62349562 CDH10 AU NM_006727 exon6 c.21903-31C>T 0.091254 0.0843 0.112179 0.1350 0.0954 Uncertain 5_24509947_C->A 5 24509947 24509947 C A snp 121.77 0/1 95 8 3 5 0.63 intronic rs3797171 CDH10 AU NM_006727 exon6 c.22157+19C>A 0.351837 0.2956 0.386018 0.4403 0.3301 Uncertain 5_25190755_G->A 5 25190755 25190755 G A snp 668.77 0/1 99 53 21 32 0.6 intergenic rs112758294 LOC340107 AU 0.136981 0.0337 Uncertain 5_26886200_C->A 5 26886200 26886200 C A snp 515.77 0/1 99 66 40 26 0.39 intronic rs41271091 CDH9 AU NM_016279 exon3 c.4948+8C>A 0.095647 0.0972 0.116862 0.1398 0.1135 Uncertain 5_26903557_G->A 5 26903557 26903557 G A snp 381.77 0/1 99 30 14 16 0.53 intronic rs9687840 CDH9 AU NM_016279 exon7 c.22501-188G>A 0.221845 0.4802 0.1970 0.5373 Uncertain 5_26905921_T->- 5 26905921 26905921 T - indel 234.73 0/1 99 22 11 11 0.5 intronic rs5866810 CDH9 AU NM_016279 exon8 c.24823-146delT 0.878994 0.9097 Uncertain 5_31297651_T->G 5 31297651 31297651 T G snp 93.28 1/1 9 3 0 3 1.0 intronic rs2330700 CDH6 AU NM_004932 exon4 c.29935+136T>G 0.417532 0.5734 Uncertain 5_31299445_G->A 5 31299445 31299445 G A snp 301.78 1/1 24 8 0 8 1.0 intronic rs2962800 CDH6 AU NM_004932 exon5 c.31990-125G>A 0.930711 1 Uncertain 5_31299727_G->A 5 31299727 31299727 G A snp 2500.77 0/1 99 207 105 102 0.49 exonic rs199901263 CDH6 AU nonsynonymous SNV NM_004932 exon5 c.G800A p.R267Q 0.000599042 0.000231 0.0007 0.0017 0.01 T 1.000 D -0.917 T 0.995 D 0.853 D ID=COSM3615324;OCCURENCE=1(pancreas) Pathogenic 5_31302288_C->T 5 31302288 31302288 C T snp 3590.77 1/1 99 138 0 138 1.0 exonic rs2287582 CDH6 AU synonymous SNV NM_004932 exon6 c.C882T p.D294D 0.405152 0.5238 0.400507 0.5084 0.5541 Uncertain 5_31317494_C->T 5 31317494 31317494 C T snp 5546.77 1/1 99 215 0 215 1.0 exonic rs2302904 CDH6 AU synonymous SNV NM_004932 exon10 c.C1525T p.L509L 0.470048 0.4921 0.495694 0.5325 0.5264 Uncertain 5_31317529_A->G 5 31317529 31317529 A G snp 6055.77 1/1 99 245 0 245 1.0 exonic rs2302903 CDH6 AU synonymous SNV NM_004932 exon10 c.A1560G p.G520G 0.503794 0.5268 0.508535 0.5396 0.5522 Uncertain 5_31317952_T->C 5 31317952 31317952 T C snp 5511.77 1/1 99 182 0 182 1.0 exonic rs2229575 CDH6 AU synonymous SNV NM_004932 exon11 c.T1803C p.H601H 0.389377 0.4931 0.405966 0.5067 0.5279 Uncertain 5_31322851_A->G 5 31322851 31322851 A G snp 2039.77 1/1 99 73 0 73 1.0 intronic rs2962790 CDH6 AU NM_004932 exon12 c.55344-73A>G 1 1 Uncertain 5_31401447_A->G 5 31401447 31401447 A G snp 2386.77 0/1 99 171 78 93 0.54 UTR3 rs10719 DROSHA AU 0.516973 0.3155 0.6885 0.3295 ID=CR1413725;DIS=Breast cancer risk, association with;TAG=DP;PUB=25390939 DP Uncertain 5_31407139_G->C 5 31407139 31407139 G C snp 614.77 0/1 99 38 16 22 0.58 intronic rs507816 DROSHA AU NM_013235 exon3 c.5514+87G>C 0.598642 0.6776 Uncertain 5_31409115_T->C 5 31409115 31409115 T C snp 796.77 0/1 99 56 23 33 0.59 intronic rs644236 DROSHA AU NM_013235 exon4 c.7624-47T>C 0.474241 0.6667 0.317007 0.3114 0.6651 Uncertain 5_31409252_A->G 5 31409252 31409252 A G snp 1748.77 0/1 99 148 69 79 0.53 exonic rs2241337 DROSHA AU synonymous SNV NM_013235 exon32 c.T3765C p.N1255N 0.306909 0.4772 0.206731 0.2457 0.4699 Uncertain 5_31410679_C->G 5 31410679 31410679 C G snp 189.77 0/1 99 11 5 6 0.55 intronic rs2287583 DROSHA AU NM_013235 exon6 c.9314-173C>G 0.204473 0.3165 Uncertain 5_31423007_T->C 5 31423007 31423007 T C snp 1077.77 0/1 99 119 70 49 0.41 exonic rs2287584 DROSHA AU synonymous SNV NM_013235 exon28 c.A3306G p.P1102P 0.452875 0.6667 0.303732 0.3302 0.6731 Uncertain 5_31431497_G->A 5 31431497 31431497 G A snp 48.74 1/1 6 2 0 2 1.0 intronic rs56280959 DROSHA AU NM_013235 exon11 c.30144-185G>A 0.376398 0.2272 Uncertain 5_31449567_T->C 5 31449567 31449567 T C snp 847.77 0/1 99 60 30 30 0.5 intronic rs140988484 DROSHA AU NM_013235 exon15 c.47988+41T>C 0.00599042 0.0288 0.000087 0.0018 0.0367 Uncertain 5_31483596_G->A 5 31483596 31483596 G A snp 3819.77 1/1 99 146 0 146 1.0 intronic rs10052174 DROSHA AU NM_013235 exon21 c.82122-64G>A 0.729433 0.5526 Uncertain 5_31483754_A->- 5 31483754 31483754 A - indel 131.73 0/1 50 31 6 25 0.81 intronic rs11341915 DROSHA AU NM_013235 exon21 c.82197+19delA 0.4829 0.4458 Uncertain 5_31485230_T->C 5 31485230 31485230 T C snp 354.78 1/1 27 11 0 11 1.0 intronic rs7712436 DROSHA AU NM_013235 exon22 c.83531+161T>C 0.933506 0.999 Uncertain 5_31486540_A->G 5 31486540 31486540 A G snp 5324.77 1/1 99 186 0 186 1.0 intronic rs7735863 DROSHA AU NM_013235 exon23 c.85059-57A>G 0.66234 0.5526 0.769601 Uncertain 5_31508933_-->T 5 31508933 31508933 - T indel 302.73 0/1 57 30 4 26 0.87 intronic rs56327412 DROSHA AU NM_013235 exon27 c.107344+51insT 0.84345 0.877 Uncertain 5_31511106_G->T 5 31511106 31511106 G T snp 2300.77 1/1 99 88 0 88 1.0 intronic rs13183642 DROSHA AU NM_013235 exon28 c.109603-35G>T 0.213695 0.2671 0.3702 Uncertain 5_31529299_A->G 5 31529299 31529299 A G snp 1051.77 1/1 78 27 0 27 1.0 intronic rs6859527 DROSHA AU NM_013235 exon33 c.127674+87A>G 0.938898 0.8155 Uncertain 5_31529306_T->C 5 31529306 31529306 T C snp 833.77 1/1 63 22 0 22 1.0 intronic rs6450850 DROSHA AU NM_013235 exon33 c.127674+94T>C 0.938898 0.8155 Uncertain 5_31532429_A->T 5 31532429 31532429 A T snp 1728.77 1/1 99 62 0 62 1.0 UTR5 rs2291109 C5orf22 AU 0.938898 0.8155 Uncertain 5_32000483_T->C 5 32000483 32000483 T C snp 721.77 0/1 99 52 23 29 0.56 intronic rs10054504 PDZD2 AU NM_178140 exon4 c.201022+106T>C 0.570088 0.3065 Uncertain 5_32037569_A->T 5 32037569 32037569 A T snp 67.77 0/1 96 8 4 4 0.5 intronic rs923834 PDZD2 AU NM_178140 exon6 c.238093+121A>T 0.489617 0.3284 Uncertain 5_32048462_C->T 5 32048462 32048462 C T snp 109.77 0/1 99 8 4 4 0.5 intronic rs4867416 PDZD2 AU NM_178140 exon7 c.249289-182C>T 0.126398 0.0873 Uncertain 5_32054092_C->G 5 32054092 32054092 C G snp 425.77 1/1 33 12 0 12 1.0 intronic rs149414 PDZD2 AU NM_178140 exon9 c.254634+103C>G 0.754992 0.6716 Uncertain 5_32057651_G->A 5 32057651 32057651 G A snp 436.77 1/1 33 13 0 13 1.0 intronic rs161545 PDZD2 AU NM_178140 exon10 c.258405-109G>A 0.88778 0.744 Uncertain 5_32057893_C->G 5 32057893 32057893 C G snp 712.77 0/1 99 91 56 35 0.38 intronic rs78602044 PDZD2 AU NM_178140 exon10 c.258479+59C>G 0.0117812 0.0377 Uncertain 5_32058115_A->G 5 32058115 32058115 A G snp 5104.77 1/1 99 185 0 185 1.0 exonic rs151861 PDZD2 AU synonymous SNV NM_178140 exon11 c.A2106G p.S702S 0.878594 0.7579 0.935414 0.9057 0.7340 Uncertain 5_32060985_-->ATC 5 32060985 32060985 - ATC indel 1418.73 1/1 72 24 0 24 1.0 intronic rs35665699 PDZD2 AU NM_178140 exon13 c.261752-122insATC Uncertain 5_32069910_T->C 5 32069910 32069910 T C snp 102.77 0/1 99 15 11 4 0.27 intronic rs6862076 PDZD2 AU NM_178140 exon14 c.270401+154T>C 0.398163 0.4097 Uncertain 5_32071325_G->A 5 32071325 32071325 G A snp 1923.77 0/1 99 116 49 67 0.58 intronic rs56223765 PDZD2 AU NM_178140 exon15 c.272134-164G>A 0.123802 0.1786 Uncertain 5_32074392_G->A 5 32074392 32074392 G A snp 3670.77 0/1 99 250 96 154 0.62 exonic rs2291114 PDZD2 AU synonymous SNV NM_178140 exon17 c.G3180A p.T1060T 0.194888 0.1746 0.199985 0.1881 0.1735 Uncertain 5_32087228_C->T 5 32087228 32087228 C T snp 850.77 0/1 99 59 21 38 0.64 intronic rs157494 PDZD2 AU NM_178140 exon19 c.287881-8C>T 0.486022 0.6488 0.352299 0.4064 0.6397 Uncertain 5_32087253_A->G 5 32087253 32087253 A G snp 1034.77 0/1 99 76 32 44 0.58 exonic rs157495 PDZD2 AU synonymous SNV NM_178140 exon19 c.A3699G p.S1233S 0.360423 0.4137 0.267184 0.3017 0.4137 Uncertain 5_32087374_A->G 5 32087374 32087374 A G snp 2201.77 0/1 99 203 114 89 0.44 exonic rs157496 PDZD2 AU nonsynonymous SNV NM_178140 exon19 c.A3820G p.T1274A 0.359824 0.4137 0.267338 0.3006 0.4145 0.89 T 0.0 P -0.957 T 0.0 T 0.0 T Pathogenic 5_32087802_A->G 5 32087802 32087802 A G snp 3086.77 0/1 99 238 118 120 0.5 exonic rs157497 PDZD2 AU synonymous SNV NM_178140 exon19 c.A4248G p.P1416P 0.490615 0.6508 0.297863 0.4042 0.6397 Uncertain 5_32101400_T->C 5 32101400 32101400 T C snp 211.77 0/1 99 24 14 10 0.42 intronic rs283107 PDZD2 AU NM_178140 exon23 c.301990+55T>C 0.153554 0.252 Uncertain 5_32135599_G->A 5 32135599 32135599 G A snp 852.77 0/1 99 69 35 34 0.49 intronic rs161539 GOLPH3 AU NM_022130 exon2 c.9360-78G>A 0.730831 0.6448 Uncertain 5_32209753_A->T 5 32209753 32209753 A T snp 43.77 0/1 72 8 5 3 0.38 intergenic rs147321365 GOLPH3 AU Uncertain 5_32242381_G->T 5 32242381 32242381 G T snp 563.77 1/1 45 21 0 21 1.0 intronic rs7729256 MTMR12 AU NM_001294344 exon3 c.12350+148G>T 0.996206 0.9821 Uncertain 5_32248077_C->T 5 32248077 32248077 C T snp 1961.77 0/1 99 184 103 81 0.44 intronic rs11960898 MTMR12 AU NM_001294344 exon5 c.18224-30C>T 0.351438 0.4871 0.314211 0.3645 0.4856 Uncertain 5_32263099_G->T 5 32263099 32263099 G T snp 743.77 0/1 99 47 20 27 0.57 intronic rs61418287 MTMR12 AU NM_001294344 exon8 c.33335-119G>T 0.478035 0.4861 Uncertain 5_32268614_T->A 5 32268614 32268614 T A snp 34.77 0/1 63 7 4 3 0.43 intronic MTMR12 AU NM_001294344 exon9 c.38923-192T>A Uncertain 5_32270747_C->G 5 32270747 32270747 C G snp 519.77 0/1 99 30 14 16 0.53 intronic rs59928961 MTMR12 AU NM_001294344 exon10 c.41039-175C>G 0.480831 0.4921 Uncertain 5_32276634_T->C 5 32276634 32276634 T C snp 146.77 0/1 99 12 7 5 0.42 intronic rs57425852 MTMR12 AU NM_001294344 exon13 c.46904-153T>C 0.351637 0.4931 Uncertain 5_32379210_G->A 5 32379210 32379210 G A snp 3981.77 1/1 99 150 0 150 1.0 intronic rs1862636 ZFR AU NM_016107 exon4 c.23355-10G>A 0.91893 0.8631 0.959942 0.9362 0.8525 Uncertain 5_32385865_G->A 5 32385865 32385865 G A snp 94.28 1/1 9 3 0 3 1.0 intronic rs7718350 ZFR AU NM_016107 exon6 c.29890+110G>A 0.43151 0.5536 Uncertain 5_32385870_G->A 5 32385870 32385870 G A snp 50.74 1/1 6 2 0 2 1.0 intronic rs7718355 ZFR AU NM_016107 exon6 c.29890+115G>A 0.43151 0.5536 Uncertain 5_32388471_T->C 5 32388471 32388471 T C snp 738.77 1/1 54 24 0 24 1.0 intronic rs889318 ZFR AU NM_016107 exon8 c.32709-103T>C 0.63758 0.5883 Uncertain 5_32403346_C->T 5 32403346 32403346 C T snp 7545.77 1/1 99 250 0 250 1.0 exonic rs4867440 ZFR AU nonsynonymous SNV NM_016107 exon8 c.G1381A p.V461I 0.91853 0.8631 0.959865 0.9362 0.8518 0.55 T 0.000 P -1.001 T 0.0 T 0.0 T Pathogenic 5_32415361_A->- 5 32415361 32415361 A - indel 1602.73 1/1 99 46 0 46 1.0 intronic rs397997293 ZFR AU NM_016107 exon16 c.59427+69delA 0.92472 0.8621 Uncertain 5_32417694_G->A 5 32417694 32417694 G A snp 2738.77 1/1 99 96 0 96 1.0 intronic rs178935 ZFR AU NM_016107 exon17 c.61887-58G>A 0.91893 0.8631 Uncertain 5_32419849_T->C 5 32419849 32419849 T C snp 1010.77 1/1 72 35 0 35 1.0 intronic rs324428 ZFR AU NM_016107 exon18 c.64060-76T>C 0.436302 0.5565 Uncertain 5_32444199_C->G 5 32444199 32444199 C G snp 556.77 1/1 42 16 0 16 1.0 intronic rs2922295 ZFR AU NM_016107 exon19 c.88469-135C>G 0.655351 0.5962 Uncertain 5_32444286_A->G 5 32444286 32444286 A G snp 2716.77 1/1 99 100 0 100 1.0 intronic rs183443 ZFR AU NM_016107 exon19 c.88469-48A>G 0.671725 0.5962 0.678560 0.6309 0.6359 Uncertain 5_32523114_T->A 5 32523114 32523114 T A snp 1182.77 0/1 99 100 53 47 0.47 intergenic rs681162 ZFR AU 0.226238 0.3105 Uncertain 5_32523343_C->T 5 32523343 32523343 C T snp 1310.77 0/1 99 92 43 49 0.53 intergenic rs2457151 ZFR AU 0.878195 0.7679 Uncertain 5_32594752_C->T 5 32594752 32594752 C T snp 1040.77 0/1 99 91 40 51 0.56 intronic rs12653236 SUB1 AU NM_006713 exon3 c.3173+2961C>T 0.179313 0.123 0.0541 0.1136 Uncertain 5_32689127_T->G 5 32689127 32689127 T G snp 2921.77 0/1 99 206 79 127 0.62 intergenic rs76306168 SUB1 AU 0.0417332 0.0754 Uncertain 5_32775047_G->T 5 32775047 32775047 G T snp 981.77 0/1 99 71 34 37 0.52 intronic rs1173743 NPR3 AU NM_001204375 exon4 c.63067+98G>T 0.623403 0.6349 Uncertain 5_32789852_T->C 5 32789852 32789852 T C snp 2724.77 0/1 99 233 118 115 0.49 UTR3 rs1173756 NPR3 AU 0.625998 0.6637 0.593572 0.5660 0.6588 Uncertain 5_33441124_C->G 5 33441124 33441124 C G snp 836.77 0/1 99 70 33 37 0.53 UTR5 rs2304621 TARS AU 0.289093 Uncertain 5_33446539_G->A 5 33446539 33446539 G A snp 98.77 0/1 99 15 10 5 0.33 intronic rs3777079 TARS AU NM_001258437 exon3 c.4318+1029G>A 0.604433 0.7302 Uncertain 5_33448962_-->T 5 33448962 33448962 - T indel 628.73 1/1 51 20 0 20 1.0 intronic rs397997313 TARS AU NM_001258437 exon4 c.7645+125insT 1 1 Uncertain 5_33453369_T->C 5 33453369 33453369 T C snp 296.77 0/1 99 41 28 13 0.32 intronic rs111754118 TARS AU NM_001258437 exon5 c.12201-24T>C 0.0327 0.0346 Uncertain 5_33457535_T->A 5 33457535 33457535 T A snp 1203.77 0/1 99 104 52 52 0.5 intronic rs2270903 TARS AU NM_001258437 exon10 c.16316+27T>A 0.606829 0.7312 0.487006 0.5052 0.7430 Uncertain 5_33457618_G->A 5 33457618 33457618 G A snp 265.77 0/1 99 26 12 14 0.54 intronic rs1003000 TARS AU NM_001258437 exon10 c.16316+110G>A 0.782947 0.87 Uncertain 5_33457650_A->G 5 33457650 33457650 A G snp 83.77 0/1 69 5 2 3 0.6 intronic rs893551 TARS AU NM_001258437 exon10 c.16316+142A>G 0.607029 0.7312 Uncertain 5_33458636_G->A 5 33458636 33458636 G A snp 2140.77 0/1 99 199 104 95 0.48 intronic rs3765145 TARS AU NM_001258437 exon11 c.17478-34G>A 0.606829 0.7312 0.486929 0.5060 0.7437 Uncertain 5_33462034_G->A 5 33462034 33462034 G A snp 1414.77 0/1 99 131 69 62 0.47 exonic rs3736393 TARS AU synonymous SNV NM_152295 exon15 c.G1653A p.A551A 0.122204 0.2401 0.047363 0.0876 0.2104 Uncertain 5_33467929_T->C 5 33467929 33467929 T C snp 733.77 0/1 99 47 22 25 0.53 UTR3 rs7261 TARS AU 0.135383 0.2401 Uncertain 5_33535060_G->A 5 33535060 33535060 G A snp 750.77 0/1 99 67 35 32 0.48 exonic rs25754 ADAMTS12 AU nonsynonymous SNV NM_030955 exon23 c.C4484T p.T1495I 0.599641 0.7688 0.461249 0.4902 0.7787 0.38 T 1.000 P -0.943 T 0.129 T 0.067 T Pathogenic 5_33546432_A->G 5 33546432 33546432 A G snp 190.9 1/1 15 8 0 8 1.0 intronic rs29967 ADAMTS12 AU NM_030955 exon3 c.19015+125A>G 0.608227 0.7569 Uncertain 5_33549559_C->A 5 33549559 33549559 C A snp 811.77 0/1 99 73 42 31 0.42 intronic rs462629 ADAMTS12 AU NM_030955 exon4 c.22196+71C>A 0.328474 0.5903 Uncertain 5_33561029_A->- 5 33561029 33561029 A - indel 179.73 0/1 99 22 11 11 0.5 intronic rs35553442 ADAMTS12 AU NM_030955 exon5 c.33839-102delA Uncertain 5_33595996_C->T 5 33595996 33595996 C T snp 2646.77 1/1 99 97 0 97 1.0 intronic rs10461924 ADAMTS12 AU NM_030955 exon8 c.68746-42C>T 0.464257 0.5605 0.457327 0.5257 0.5822 Uncertain 5_33596193_A->G 5 33596193 33596193 A G snp 511.77 1/1 39 19 0 19 1.0 intronic rs10461925 ADAMTS12 AU NM_030955 exon8 c.68873+28A>G 0.477835 0.5605 0.472474 0.5307 0.5830 Uncertain 5_33596224_C->T 5 33596224 33596224 C T snp 388.77 1/1 30 12 0 12 1.0 intronic rs10461703 ADAMTS12 AU NM_030955 exon8 c.68873+59C>T 0.473043 0.5605 Uncertain 5_33596243_C->T 5 33596243 33596243 C T snp 216.84 1/1 18 6 0 6 1.0 intronic rs10461704 ADAMTS12 AU NM_030955 exon8 c.68873+78C>T 0.473043 0.5605 Uncertain 5_33616311_T->C 5 33616311 33616311 T C snp 490.77 0/1 99 35 18 17 0.49 intronic rs4078398 ADAMTS12 AU NM_030955 exon10 c.88885+134T>C 0.703275 0.7758 Uncertain 5_33624155_G->C 5 33624155 33624155 G C snp 298.77 0/1 99 14 4 10 0.71 intronic rs7710204 ADAMTS12 AU NM_030955 exon11 c.97043-180G>C 0.488818 0.622 Uncertain 5_33624430_A->G 5 33624430 33624430 A G snp 1604.77 0/1 99 119 57 62 0.52 exonic rs61748198 ADAMTS12 AU synonymous SNV NM_030955 exon14 c.T2049C p.D683D 0.160743 0.2669 0.093880 0.1095 0.2983 Uncertain 5_33631142_C->G 5 33631142 33631142 C G snp 419.77 1/1 33 11 0 11 1.0 intronic rs7444287 ADAMTS12 AU NM_030955 exon12 c.103726+124C>G 0.321286 0.2659 Uncertain 5_33637594_G->A 5 33637594 33637594 G A snp 1630.77 1/1 99 50 0 50 1.0 intronic rs10045908 ADAMTS12 AU NM_030955 exon13 c.110389-87G>A 0.200679 0.1736 Uncertain 5_33661909_A->G 5 33661909 33661909 A G snp 54.74 1/1 6 2 0 2 1.0 intronic rs6451007 ADAMTS12 AU NM_030955 exon19 c.134728-111A>G 0.977037 1 Uncertain 5_33683028_G->C 5 33683028 33683028 G C snp 667.77 0/1 99 48 24 24 0.5 intronic rs62352065 ADAMTS12 AU NM_030955 exon20 c.155830-94G>C Uncertain 5_33683089_C->T 5 33683089 33683089 C T snp 1152.77 0/1 99 106 55 51 0.48 intronic rs10080136 ADAMTS12 AU NM_030955 exon20 c.155830-33C>T 0.0958466 0.1925 0.051130 0.0433 0.1801 Uncertain 5_33684293_A->G 5 33684293 33684293 A G snp 44.78 0/1 27 3 1 2 0.67 intronic rs62352066 ADAMTS12 AU NM_030955 exon21 c.156868+133A>G 0.095647 0.1925 Uncertain 5_33751389_-->A 5 33751389 33751389 - A indel 227.73 0/1 99 33 20 13 0.39 intronic rs397827660 ADAMTS12 AU NM_030955 exon22 c.224216-119insA 0.533546 0.5546 Uncertain 5_33954511_T->C 5 33954511 33954511 T C snp 1661.77 0/1 99 117 43 74 0.63 exonic rs2287949 SLC45A2 AU,AR synonymous SNV NM_016180 exon4 c.A987G p.T329T 0.833067 0.8214 0.959250 0.8968 0.8089 0.04 T 1.0 P -0.937 T 0.0 T 0.0 T Likely benign 5_33963732_AAC->- 5 33963732 33963734 AAC - indel 727.73 0/1 99 34 17 17 0.5 intronic rs141348470 SLC45A2 AU,AR NM_001012509 exon4 c.16543-63_16543-61delAAC 0.81889 0.7817 Uncertain 5_33964210_T->G 5 33964210 33964210 T G snp 502.77 0/1 99 42 18 24 0.57 intronic rs183671 SLC45A2 AU,AR NM_001012509 exon4 c.16869+89T>G 0.378395 0.0913 Uncertain 5_33964241_A->G 5 33964241 33964241 A G snp 747.77 1/1 54 26 0 26 1.0 intronic rs6451048 SLC45A2 AU,AR NM_001012509 exon4 c.16869+120A>G 0.992612 1 Uncertain 5_33969172_G->C 5 33969172 33969172 G C snp 35.77 0/1 64 21 18 3 0.14 intronic rs187692103 SLC45A2 AU,AR NM_001012509 exon4 c.16869+5051G>C Uncertain 5_33989518_C->T 5 33989518 33989518 C T snp 6608.77 1/1 99 239 0 239 1.0 exonic rs2278008 AMACR AR nonsynonymous SNV NM_014324 exon5 c.G829A p.E277K 0.696086 0.876 0.759111 0.7016 0.8556 0.96 T 1.000 P -0.948 T 0.0 T 0.001 T CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000116324.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 ID=CM078460;DIS=Advanced distal colorectal adenoma, increased risk, association;TAG=DP;PUB=17684125 DP Pathogenic 5_33994116_A->T 5 33994116 33994116 A T snp 230.77 0/1 99 31 20 11 0.35 ncRNA_intronic rs10472909 C1QTNF3-AMACR AU 0.3752 0.3581 0.2508 0.2879 0.0 P Uncertain 5_33994316_G->A 5 33994316 33994316 G A snp 155.77 0/1 99 12 5 7 0.58 ncRNA_intronic rs11742345 C1QTNF3-AMACR AU 0.367612 0.3591 Uncertain 5_33998883_A->G 5 33998883 33998883 A G snp 5080.77 1/1 99 184 0 184 1.0 exonic rs2287939 AMACR AR nonsynonymous SNV NM_014324 exon4 c.T602C p.L201S 0.714856 0.8512 0.748654 0.6994 0.8286 0.6 T 0.0 P -0.990 T 0.001 T 0.007 T CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000116322.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 ID=CM078459;DIS=Advanced distal colorectal adenoma, increased risk, association;TAG=DP;PUB=17684125 DP Pathogenic 5_34004707_C->T 5 34004707 34004707 C T snp 1065.77 0/1 99 108 59 49 0.45 exonic rs10941112 AMACR AR nonsynonymous SNV NM_014324 exon3 c.G524A p.G175D 0.252596 0.3472 0.384207 0.4108 0.3293 0.05 T 1.0 P -1.012 T 0.931 T 0.798 D CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000116321.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 ID=CM099356;DIS=Altered splicing;TAG=FP;PUB=20011102 FP Pathogenic 5_34008100_C->T 5 34008100 34008100 C T snp 2257.77 0/1 99 176 83 93 0.53 exonic rs3195676 AMACR AR nonsynonymous SNV NM_014324 exon1 c.G25A p.V9M 0.286941 0.3542 0.417593 0.4227 0.3309 0.03 T 1.000 P -0.902 T 0.888 T 0.579 P CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000116320.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 ID=CM078108;DIS=Prostate cancer risk, association with;TAG=DP;PUB=17683075 DP Pathogenic 5_34008207_CGGCGCCACGCCCCCAGCCG->- 5 34008207 34008226 CGGCGCCACGCCCCCAGCCG - indel 3039.73 0/1 99 37 11 26 0.7 ncRNA_intronic rs147299668 C1QTNF3-AMACR AU 0.289936 0.3552 Uncertain 5_34033670_T->C 5 34033670 34033670 T C snp 1011.77 0/1 99 60 26 34 0.57 ncRNA_intronic rs299594 C1QTNF3-AMACR AU 0.566494 0.503 Uncertain 5_34035530_T->C 5 34035530 34035530 T C snp 50.74 1/1 6 2 0 2 1.0 ncRNA_intronic rs186195 C1QTNF3-AMACR AU 0.525958 0.5169 Uncertain 5_34042866_-->AAC 5 34042866 34042866 - AAC indel 433.73 0/1 99 20 10 10 0.5 ncRNA_intronic rs112167551 C1QTNF3-AMACR AU 0.338458 0.4177 Uncertain 5_34795981_C->T 5 34795981 34795981 C T snp 1812.77 0/1 99 155 78 77 0.5 intronic rs6897719 RAI14 AU NM_015577 exon4 c.109019-62C>T 0.189896 0.0357 Uncertain 5_34803682_A->G 5 34803682 34803682 A G snp 99.28 1/1 9 3 0 3 1.0 intronic rs182791515 RAI14 AU NM_015577 exon5 c.116792-134A>G 0.000998403 0.005 Uncertain 5_34807928_C->T 5 34807928 34807928 C T snp 1770.77 0/1 99 179 104 75 0.42 exonic rs6895634 RAI14 AU synonymous SNV NM_001145523 exon5 c.C321T p.V107V 0.389776 0.3591 0.371982 0.4079 0.3618 Uncertain 5_34811137_T->G 5 34811137 34811137 T G snp 1600.77 0/1 99 152 77 75 0.49 exonic rs2271522 RAI14 AU synonymous SNV NM_001145523 exon7 c.T447G p.L149L 0.320088 0.3591 0.278794 0.3503 0.3714 Uncertain 5_34814660_A->G 5 34814660 34814660 A G snp 1846.77 0/1 99 154 77 77 0.5 intronic rs12332660 RAI14 AU NM_015577 exon12 c.127663-27A>G 0.132388 0.0437 0.139551 0.0755 0.0501 Uncertain 5_34818977_T->- 5 34818977 34818977 T - indel 768.73 0/1 99 58 21 37 0.64 intronic rs3884194 RAI14 AU NM_015577 exon13 c.131932+21delT 0.315895 0.3492 0.277432 0.3538 0.4279 Uncertain 5_34821825_C->T 5 34821825 34821825 C T snp 1506.77 0/1 99 118 56 62 0.53 intronic rs10461947 RAI14 AU NM_015577 exon14 c.134812-11C>T 0.335463 0.3542 0.303876 0.3711 0.3625 Uncertain 5_34822926_T->C 5 34822926 34822926 T C snp 262.8 1/1 21 7 0 7 1.0 intronic rs7730728 RAI14 AU NM_015577 exon15 c.136036-134T>C 0.537939 0.4127 Uncertain 5_34824555_G->T 5 34824555 34824555 G T snp 923.77 0/1 99 60 26 34 0.57 exonic rs1048944 RAI14 AU nonsynonymous SNV NM_001145522 exon14 c.G2521T p.A841S 0.436502 0.369 0.432553 0.4919 0.3746 0.7 T 0.0 P -0.959 T 0.0 T 0.0 T Pathogenic 5_34840841_A->G 5 34840841 34840841 A G snp 2531.77 0/1 99 215 109 106 0.49 exonic rs6451173 TTC23L AU nonsynonymous SNV NM_144725 exon2 c.A65G p.H22R 0.53774 0.256 0.642197 0.5281 0.2680 0.95 T 0.0 P -0.912 T 0.0 T 0.002 T Pathogenic 5_34845473_C->A 5 34845473 34845473 C A snp 851.77 1/1 63 26 0 26 1.0 intronic rs336486 TTC23L AU NM_144725 exon3 c.4815-118C>A 0.846645 0.6171 Uncertain 5_34866806_G->A 5 34866806 34866806 G A snp 77.77 0/1 30 4 1 3 0.75 intronic rs17615134 TTC23L AU NM_144725 exon7 c.26220-190G>A 0.117612 0.0675 Uncertain 5_34867303_T->C 5 34867303 34867303 T C snp 57.77 0/1 86 13 10 3 0.23 intronic rs10053214 TTC23L AU NM_144725 exon7 c.26398+129T>C 0.227037 0.1161 0.2862 0.1489 Uncertain 5_34880750_-->T 5 34880750 34880750 - T indel 256.73 0/1 99 56 9 47 0.84 intronic rs34549849 TTC23L AU NM_144725 exon9 c.39637+337insT 0.425319 0.3819 0.3449 0.3103 Uncertain 5_34918415_A->G 5 34918415 34918415 A G snp 316.77 0/1 96 18 6 12 0.67 intronic rs37434 BRIX1 AU NM_018321 exon2 c.2625-53A>G 0.256589 0.3442 Uncertain 5_34923435_A->C 5 34923435 34923435 A C snp 67.77 0/1 96 7 4 3 0.43 intronic rs37431 BRIX1 AU NM_018321 exon8 c.7496+96A>C 0.245008 0.3482 Uncertain 5_34925328_-->A 5 34925328 34925328 - A indel 130.73 0/1 86 8 3 5 0.63 splicing rs66875519 BRIX1 AU NM_018321 exon10 c.9487-2insA 0.146765 0.1131 0.134687 0.1330 0.0780 Pathogenic 5_34945944_A->T 5 34945944 34945944 A T snp 525.77 0/1 99 41 13 28 0.68 intronic rs37442 DNAJC21 AU NM_194283 exon9 c.15984+36A>T 0.234425 0.3244 0.204031 0.2569 0.3360 Uncertain 5_34954588_T->C 5 34954588 34954588 T C snp 1639.77 1/1 99 46 0 46 1.0 intronic rs37437 DNAJC21 AU NM_194283 exon13 c.24733-69T>C 0.792532 0.6548 Uncertain 5_34998778_C->A 5 34998778 34998778 C A snp 3717.77 1/1 99 130 1 129 0.99 UTR3 rs16899972 AGXT2 AU 0.484824 0.5496 0.459397 0.5140 0.5664 Uncertain 5_34998877_C->A 5 34998877 34998877 C A snp 4640.77 1/1 99 168 1 167 0.99 exonic rs16899974 AGXT2 AU nonsynonymous SNV NM_031900 exon14 c.G1492T p.V498L 0.235623 0.4216 0.177226 0.2369 0.4198 0.52 T 0.007 P -0.916 T 0.088 T 0.041 T Pathogenic 5_34999057_G->C 5 34999057 34999057 G C snp 351.78 1/1 27 9 0 9 1.0 intronic rs16899975 AGXT2 AU NM_031900 exon1 c.108+126G>C 0.232628 0.4236 Uncertain 5_35010138_A->G 5 35010138 35010138 A G snp 4656.77 1/1 99 178 2 176 0.99 exonic rs466067 AGXT2 AU synonymous SNV NM_031900 exon12 c.T1305C p.G435G 0.894569 0.7897 0.958019 0.9586 0.8018 Uncertain 5_35025770_G->A 5 35025770 35025770 G A snp 759.77 1/1 57 22 0 22 1.0 intronic rs344515 AGXT2 AU NM_031900 exon6 c.27044-97G>A 0.663738 0.6657 Uncertain 5_35026683_A->G 5 35026683 35026683 A G snp 1832.77 1/1 99 70 0 70 1.0 intronic rs344513 AGXT2 AU NM_031900 exon7 c.27792+68A>G 0.870407 0.7778 Uncertain 5_35032769_G->A 5 35032769 35032769 G A snp 717.77 1/1 54 21 0 21 1.0 intronic rs237252 AGXT2 AU NM_031900 exon8 c.34013-67G>A 0.692292 0.6746 Uncertain 5_35033605_G->A 5 35033605 35033605 G A snp 2733.77 1/1 99 96 0 96 1.0 exonic rs180749 AGXT2 AU nonsynonymous SNV NM_031900 exon6 c.C635T p.T212I 0.875 0.7788 0.942104 0.9491 0.7873 0.43 T 0.0 P -0.934 T 0.099 T 0.06 T Pathogenic 5_35033706_T->C 5 35033706 35033706 T C snp 707.77 1/1 54 22 0 22 1.0 intronic rs2291702 AGXT2 AU NM_031900 exon9 c.34835+48T>C 0.493011 0.6726 0.408196 0.5118 0.6914 Uncertain 5_35035579_A->G 5 35035579 35035579 A G snp 338.78 1/1 27 11 0 11 1.0 intronic rs344156 AGXT2 AU NM_031900 exon10 c.36598+158A>G 0.689297 0.6706 Uncertain 5_35037006_T->C 5 35037006 35037006 T C snp 730.77 0/1 99 65 36 29 0.45 intronic rs171081 AGXT2 AU NM_031900 exon11 c.38223-40T>C 0.473043 0.2758 0.575427 0.5693 0.2660 Uncertain 5_35037115_C->T 5 35037115 35037115 C T snp 727.77 0/1 99 65 36 29 0.45 exonic rs37369 AGXT2 AU nonsynonymous SNV NM_031900 exon4 c.G418A p.V140I 0.39357 0.5744 0.238967 0.2106 0.5849 0.78 T 0.000 P -0.979 T 0.003 T 0.006 T ID=CM113402;DIS=Hyper-beta-aminoisobutyric aciduria;TAG=DM;PUB=21572414 DM Pathogenic 5_35641582_A->C 5 35641582 35641582 A C snp 2946.77 1/1 99 111 0 111 1.0 exonic rs6897513 SPEF2 AU nonsynonymous SNV NM_024867 exon3 c.A211C p.N71H 0.679113 0.7401 0.595725 0.6061 0.7353 1 T 1.0 P -0.951 T 0.0 T 0.001 T Pathogenic 5_35643615_G->A 5 35643615 35643615 G A snp 2912.77 1/1 99 104 0 104 1.0 intronic rs10941252 SPEF2 AU NM_144722 exon4 c.26357-841G>A 0.4180 0.4853 Uncertain 5_35644336_T->G 5 35644336 35644336 T G snp 99.28 1/1 9 3 0 3 1.0 intronic rs2035994 SPEF2 AU NM_144722 exon4 c.26357-120T>G 0.677516 0.7401 Uncertain 5_35644621_T->C 5 35644621 35644621 T C snp 1162.77 1/1 84 39 0 39 1.0 exonic rs7706444 SPEF2 AU synonymous SNV NM_024867 exon4 c.T579C p.I193I 0.784145 0.8869 0.684632 0.7220 0.8595 Uncertain 5_35654711_C->T 5 35654711 35654711 C T snp 4352.77 1/1 99 168 0 168 1.0 exonic rs2270558 SPEF2 AU synonymous SNV NM_024867 exon7 c.C861T p.D287D 0.677117 0.7401 0.591958 0.6012 0.7350 Uncertain 5_35659355_T->C 5 35659355 35659355 T C snp 1744.77 1/1 99 63 0 63 1.0 intronic rs9292598 SPEF2 AU NM_144722 exon8 c.41210+46T>C 0.683506 0.7351 0.601788 0.6067 0.7338 Uncertain 5_35670303_G->A 5 35670303 35670303 G A snp 1500.77 0/1 99 115 51 64 0.56 exonic rs34708521 SPEF2 AU nonsynonymous SNV NM_024867 exon10 c.G1498A p.D500N 0.162141 0.3542 0.068584 0.0968 0.3239 0.16 T 1.0 P -0.968 T 1.0 D 0.998 D Pathogenic 5_35692775_T->A 5 35692775 35692775 T A snp 1726.77 0/1 99 133 60 73 0.55 exonic rs7710284 SPEF2 AU nonsynonymous SNV NM_024867 exon12 c.T1848A p.N616K 0.357029 0.4067 0.260752 0.2223 0.3942 0.54 T 0.0 P -0.942 T 0.0 T 0.0 T Pathogenic 5_35694488_C->- 5 35694488 35694488 C - indel 2841.73 0/1 99 171 93 78 0.46 intronic rs75251573 SPEF2 AU NM_024867 exon13 c.76366+23delC 0.205871 0.4018 0.091147 0.1304 0.4065 Uncertain 5_35695915_A->C 5 35695915 35695915 A C snp 499.77 0/1 99 49 30 19 0.39 intronic rs62351876 SPEF2 AU NM_024867 exon14 c.77799+17A>C 0.205871 0.4018 0.089110 0.1525 0.4373 Uncertain 5_35709095_C->T 5 35709095 35709095 C T snp 696.77 0/1 99 85 52 33 0.39 exonic rs13170082 SPEF2 AU nonsynonymous SNV NM_024867 exon19 c.C2711T p.A904V 0.756562 0.7556 0.7779 0.32 T 0.000 P -1.043 T 0.001 T 0.002 T Pathogenic 5_35709184_G->C 5 35709184 35709184 G C snp 622.77 0/1 99 79 49 30 0.38 exonic rs13170390 SPEF2 AU nonsynonymous SNV NM_024867 exon19 c.G2800C p.A934P 0.756089 0.7556 0.7775 0.29 T 0.0 P -0.985 T 0.0 T 0.0 T Pathogenic 5_35712780_A->G 5 35712780 35712780 A G snp 830.77 0/1 99 46 18 28 0.61 intronic rs10078803 SPEF2 AU NM_024867 exon20 c.94814-133A>G 0.725439 0.8016 Uncertain 5_35713007_T->G 5 35713007 35713007 T G snp 969.77 0/1 99 62 22 40 0.65 intronic rs10073537 SPEF2 AU NM_024867 exon20 c.94889+19T>G 0.725439 0.8016 0.756800 0.7738 0.7969 Uncertain 5_35739960_A->G 5 35739960 35739960 A G snp 427.77 1/1 33 11 0 11 1.0 intronic rs10043875 SPEF2 AU NM_024867 exon22 c.121921-60A>G 0.895767 0.871 Uncertain 5_35753715_T->C 5 35753715 35753715 T C snp 429.77 0/1 99 24 9 15 0.63 intronic rs11957963 SPEF2 AU NM_024867 exon24 c.135626-10T>C 0.503594 0.6806 0.542006 0.5934 0.6618 Uncertain 5_35763726_C->T 5 35763726 35763726 C T snp 1851.77 0/1 99 177 94 83 0.47 exonic rs79969516 SPEF2 AU synonymous SNV NM_024867 exon26 c.C3723T p.N1241N 0.00539137 0.0268 0.000167 0.0025 0.0328 Uncertain 5_35763878_G->- 5 35763878 35763878 G - indel 1354.73 0/1 99 52 17 35 0.67 intronic rs11298650 SPEF2 AU NM_024867 exon26 c.145705+74delG 0.495807 0.6806 Uncertain 5_35763895_T->C 5 35763895 35763895 T C snp 1185.77 1/1 87 37 0 37 1.0 intronic rs6876874 SPEF2 AU NM_024867 exon26 c.145705+91T>C 0.879593 0.8919 Uncertain 5_35763916_A->G 5 35763916 35763916 A G snp 718.77 1/1 54 20 0 20 1.0 intronic rs6895801 SPEF2 AU NM_024867 exon26 c.145705+112A>G Uncertain 5_35763968_G->T 5 35763968 35763968 G T snp 94.28 1/1 9 3 0 3 1.0 intronic rs6896356 SPEF2 AU NM_024867 exon26 c.145705+164G>T 0.879593 0.8919 Uncertain 5_35764587_G->A 5 35764587 35764587 G A snp 2035.77 1/1 99 66 0 66 1.0 intronic rs4869466 SPEF2 AU NM_024867 exon26 c.145705+783G>A 0.899561 0.8919 Uncertain 5_35764603_A->G 5 35764603 35764603 A G snp 2492.77 1/1 99 82 0 82 1.0 intronic rs4869467 SPEF2 AU NM_024867 exon26 c.145705+799A>G 0.995807 1 0.9966 1 Uncertain 5_35764696_C->T 5 35764696 35764696 C T snp 5023.77 1/1 99 179 0 179 1.0 intronic rs4242258 SPEF2 AU NM_024867 exon26 c.145705+892C>T 0.879593 0.8919 0.9728 0.8939 Uncertain 5_35776239_A->G 5 35776239 35776239 A G snp 257.77 0/1 99 27 16 11 0.41 intronic rs11749262 SPEF2 AU NM_024867 exon29 c.158259-119A>G 0.286941 0.1726 Uncertain 5_35789164_G->A 5 35789164 35789164 G A snp 5479.77 1/1 99 182 0 182 1.0 intronic rs1494576 SPEF2 AU NM_024867 exon31 c.174342-3277G>A 0.804313 0.876 0.7291 0.8724 Uncertain 5_35792356_A->C 5 35792356 35792356 A C snp 588.77 1/1 45 15 0 15 1.0 intronic rs7730148 SPEF2 AU NM_024867 exon31 c.174342-85A>C 0.925319 0.9593 Uncertain 5_35795738_T->C 5 35795738 35795738 T C snp 198.78 0/1 24 9 2 7 0.78 intronic rs716971 SPEF2 AU NM_024867 exon33 c.177705-66T>C 0.472444 0.6488 Uncertain 5_35799994_A->G 5 35799994 35799994 A G snp 1432.77 1/1 99 46 0 46 1.0 intronic rs3822735 SPEF2 AU NM_024867 exon34 c.181970-75A>G 0.774361 0.8978 Uncertain 5_35857207_C->T 5 35857207 35857207 C T snp 4554.77 1/1 99 166 1 165 0.99 intronic rs1353251 IL7R AR NM_002185 exon1 c.82+46C>T 0.279952 0.5198 0.154875 0.2600 0.5292 Uncertain 5_35910419_C->T 5 35910419 35910419 C T snp 1672.77 0/1 99 202 122 80 0.4 intronic rs1445899 CAPSL AU NM_001042625 exon3 c.5821-48C>T 0.525359 0.7609 0.387342 0.5020 0.7438 Uncertain 5_35910529_C->T 5 35910529 35910529 C T snp 1854.77 0/1 99 172 94 78 0.45 exonic rs1445898 CAPSL AU nonsynonymous SNV NM_001042625 exon3 c.G254A p.R85Q 0.525359 0.7609 0.387590 0.5051 0.7438 0.4 T 0.0 P -0.977 T 0.001 T 0.001 T Pathogenic 5_35921069_T->C 5 35921069 35921069 T C snp 2618.77 0/1 99 250 135 115 0.46 intronic rs6859892 CAPSL AU NM_001042625 exon4 c.16439-16T>C 0.859625 0.8284 0.852530 0.8772 0.8212 Uncertain 5_35954588_C->T 5 35954588 35954588 C T snp 2884.77 1/1 99 95 0 95 1.0 intronic rs700164 UGT3A1 AU NM_152404 exon1 c.277+8C>T 0.330871 0.6548 0.169230 0.2975 0.6593 Uncertain 5_35962984_A->G 5 35962984 35962984 A G snp 4168.77 1/1 99 166 0 166 1.0 exonic rs1070895 UGT3A1 AU nonsynonymous SNV NM_001171873 exon6 c.T751C p.W251R 0.833067 0.8929 0.8554 0.9040 0.13 T 0.0 P -1.026 T 0.0 T 0.0 T Pathogenic 5_35965970_A->C 5 35965970 35965970 A C snp 1436.77 1/1 99 53 0 53 1.0 exonic rs3756669 UGT3A1 AU nonsynonymous SNV NM_152404 exon4 c.T361G p.C121G 0.212859 0.3849 0.104494 0.1941 0.4059 0 D 0.991 P -1.230 T 1.0 D 1.0 D Pathogenic 5_35967917_G->C 5 35967917 35967917 G C snp 165.9 1/1 15 5 0 5 1.0 intronic rs1374014 UGT3A1 AU NM_001171873 exon3 c.5145-203G>C 0.743411 0.631 Uncertain 5_35968000_C->A 5 35968000 35968000 C A snp 1133.77 1/1 84 40 0 40 1.0 intronic rs10491431 UGT3A1 AU NM_001171873 exon3 c.5145-120C>A 0.287939 0.4296 Uncertain 5_36037778_G->A 5 36037778 36037778 G A snp 406.77 0/1 99 27 12 15 0.56 intronic rs2247611 UGT3A2 AU NM_001168316 exon2 c.2099-120G>A 0.903754 0.9177 Uncertain 5_36051835_TCCG->- 5 36051835 36051838 TCCG - indel 847.73 0/1 99 21 7 14 0.67 intronic rs146158368 UGT3A2 AU NM_001168316 exon5 c.16172-136_16172-133delTCCG 0.273962 0.2579 Uncertain 5_36111167_A->T 5 36111167 36111167 A T snp 78.77 0/1 63 5 2 3 0.6 intronic rs43189 LMBRD2 AU NM_001007527 exon5 c.7109-89A>T Uncertain 5_36124514_A->G 5 36124514 36124514 A G snp 49.77 0/1 33 5 2 3 0.6 intronic rs13177876 LMBRD2 AU NM_001007527 exon12 c.20220+147A>G 0.231829 0.2212 Uncertain 5_36136349_A->G 5 36136349 36136349 A G snp 175.77 0/1 99 12 6 6 0.5 intronic rs267757 LMBRD2 AU NM_001007527 exon13 c.32263-61A>G 0.704872 0.4692 Uncertain 5_36136675_C->T 5 36136675 36136675 C T snp 1325.77 0/1 99 111 61 50 0.45 intronic rs267758 LMBRD2 AU NM_001007527 exon13 c.32474+54C>T 0.454073 0.3542 Uncertain 5_36137620_A->G 5 36137620 36137620 A G snp 36.77 0/1 65 10 6 4 0.4 intronic rs267759 LMBRD2 AU NM_001007527 exon14 c.33396+77A>G 0.885184 0.7292 Uncertain 5_36141386_T->A 5 36141386 36141386 T A snp 359.77 0/1 99 31 18 13 0.42 intronic rs13156321 LMBRD2 AU NM_001007527 exon15 c.37157+82T>A 0.226438 0.2212 Uncertain 5_36142589_T->A 5 36142589 36142589 T A snp 646.77 0/1 99 59 29 30 0.51 intronic rs267764 LMBRD2 AU NM_001007527 exon16 c.38456-14T>A 0.468051 0.3542 0.471475 0.4630 0.3466 Uncertain 5_36142648_A->G 5 36142648 36142648 A G snp 977.77 0/1 99 103 58 45 0.44 exonic rs12658867 LMBRD2 AU synonymous SNV NM_001007527 exon3 c.T228C p.N76N 0.227037 0.2192 0.300015 0.3497 0.2253 Uncertain 5_36143392_C->T 5 36143392 36143392 C T snp 1705.77 0/1 99 151 72 79 0.52 exonic rs267766 LMBRD2 AU synonymous SNV NM_001007527 exon2 c.G60A p.L20L 0.335663 0.2192 0.414193 0.3789 0.2244 Uncertain 5_36166827_-->T 5 36166827 36166827 - T indel 158.73 0/1 99 46 15 31 0.67 intronic rs34784319 SKP2 AU NM_005983 exon4 c.14400+63insT 0.413139 0.3591 Uncertain 5_36168582_T->C 5 36168582 36168582 T C snp 967.77 0/1 99 108 63 45 0.42 intronic rs7736391 SKP2 AU NM_005983 exon5 c.16185+33T>C 0.580471 0.4187 0.730432 0.7546 0.4161 Uncertain 5_36176874_G->A 5 36176874 36176874 G A snp 238.77 0/1 99 21 8 13 0.62 intronic rs40030 SKP2 AU NM_005983 exon8 c.24702-192G>A 0.448482 0.37 Uncertain 5_36201336_C->T 5 36201336 36201336 C T snp 296.77 0/1 99 21 9 12 0.57 intronic rs7705396 NADK2 AR NM_153013 exon4 c.6018+73C>T 0.800519 0.4772 Uncertain 5_36207424_G->T 5 36207424 36207424 G T snp 2335.77 0/1 99 186 95 91 0.49 intronic rs2303163 NADK2 AR NM_153013 exon5 c.12122+57G>T 0.859625 0.7024 Uncertain 5_36217764_-->TTAATCA 5 36217764 36217764 - TTAATCA indel 2471.73 0/1 99 85 58 27 0.32 intronic rs111441491 NADK2 AR NM_153013 exon7 c.22604-85insTTAATCA 0.859824 0.7024 Uncertain 5_36217997_T->A 5 36217997 36217997 T A snp 596.77 0/1 99 66 41 25 0.38 intronic rs3761973 NADK2 AR NM_153013 exon7 c.22741+11T>A 0.327276 0.2867 0.330617 0.3764 0.2902 Uncertain 5_36219480_C->T 5 36219480 36219480 C T snp 31.78 0/1 27 3 1 2 0.67 intronic rs6866745 NADK2 AR NM_153013 exon8 c.24452-217C>T 0.859824 0.7024 Uncertain 5_36241955_T->C 5 36241955 36241955 T C snp 256.77 0/1 99 29 15 14 0.48 upstream rs74717771 NADK2 AR 0.40655 0.377 Uncertain 5_36241988_G->C 5 36241988 36241988 G C snp 237.77 0/1 99 22 9 13 0.59 upstream rs34888491 NADK2 AR 0.820887 0.7063 Uncertain 5_36253937_G->A 5 36253937 36253937 G A snp 1145.77 0/1 99 109 61 48 0.44 intronic rs4869473 RANBP3L AU NM_001161429 exon3 c.4136+46G>A 0.783746 0.7083 0.863196 0.9006 0.6910 Uncertain 5_36260976_T->A 5 36260976 36260976 T A snp 387.77 0/1 99 27 11 16 0.59 intronic rs6881086 RANBP3L AU NM_001161429 exon7 c.11211+10T>A 0.783746 0.7083 0.867218 0.8985 0.7196 Uncertain 5_36262256_G->C 5 36262256 36262256 G C snp 88.28 1/1 9 3 0 3 1.0 intronic rs2362977 RANBP3L AU NM_001161429 exon8 c.12389+112G>C 0.291933 0.2907 Uncertain 5_36268218_A->G 5 36268218 36268218 A G snp 972.77 0/1 99 72 34 38 0.53 intronic rs6869599 RANBP3L AU NM_001161429 exon11 c.18539-76A>G 0.786342 0.7083 Uncertain 5_36269551_G->C 5 36269551 36269551 G C snp 1542.77 0/1 99 152 83 69 0.45 exonic rs1035480 RANBP3L AU nonsynonymous SNV NM_001161429 exon4 c.C209G p.T70R 0.80651 0.7083 0.885420 0.9060 0.6907 0.85 T 0.000 P -0.971 T 0.0 T 0.0 T Pathogenic 5_36271492_T->- 5 36271492 36271492 T - indel 92.73 0/1 64 10 3 7 0.7 intronic rs397997359 RANBP3L AU NM_001161429 exon14 c.21658+79delT 0.736222 0.621 Uncertain 5_36608727_-->A 5 36608727 36608727 - A indel 1097.73 0/1 99 109 53 56 0.51 intronic rs3216728 SLC1A3 AD NM_004172 exon2 c.181+21insA 0.342652 0.4603 0.264335 0.2147 0.4833 Uncertain 5_36613053_A->G 5 36613053 36613053 A G snp 379.77 0/1 99 30 18 12 0.4 intronic rs7728680 SLC1A3 AD NM_001166696 exon2 c.874+3654A>G 0.38738 0.3522 0.4428 0.2459 Uncertain 5_36629529_-->T 5 36629529 36629529 - T indel 35.73 0/1 73 12 7 5 0.42 intronic rs541681490 SLC1A3 AD NM_004172 exon3 c.21026-22insT 0.129992 0.2192 0.0648 0.1455 Uncertain 5_36680125_A->G 5 36680125 36680125 A G snp 145.77 0/1 99 10 5 5 0.5 intronic rs2303716 SLC1A3 AD NM_004172 exon7 c.71437+163A>G Uncertain 5_36683801_T->C 5 36683801 36683801 T C snp 34.78 0/1 27 3 1 2 0.67 intronic rs56038114 SLC1A3 AD NM_004172 exon9 c.75440-164T>C 0.364816 0.4782 Uncertain 5_36683903_C->T 5 36683903 36683903 C T snp 680.77 0/1 99 59 32 27 0.46 intronic rs56039629 SLC1A3 AD NM_004172 exon9 c.75440-62C>T 0.359026 0.4762 Uncertain 5_36985303_A->G 5 36985303 36985303 A G snp 1105.77 0/1 99 91 41 50 0.55 exonic rs3822471 NIPBL AD nonsynonymous SNV NM_133433 exon10 c.A2021G p.N674S 0.1252 0.1329 0.113794 0.1322 0.1301 0.83 T 0.408 P -1.006 T 0.0 T 0.001 T CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|Cornelia_de_Lange_syndrome_1;CLNREVSTAT=criteria_provided\x2c_multiple_submitters\x2c_no_conflicts|no_assertion_criteria_provided;CLNACC=RCV000082482.4|RCV000086371.1;CLNDSDB=MedGen|GeneReviews:MedGen:OMIM:Orphanet;CLNDSDBID=CN169374|NBK1104:CN029798:122470:ORPHA199 Pathogenic 5_37001074_A->G 5 37001074 37001074 A G snp 669.77 0/1 99 58 29 29 0.5 intronic rs78827246 NIPBL AD NM_133433 exon14 c.47292-16A>G 0.126797 0.1359 0.113181 0.1320 0.1320 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000082489.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 5_37007629_T->C 5 37007629 37007629 T C snp 517.77 1/1 39 15 0 15 1.0 intronic rs159753 NIPBL AD NM_133433 exon18 c.53778+53T>C 0.622005 0.5089 Uncertain 5_37010404_A->G 5 37010404 37010404 A G snp 250.84 0/1 18 14 2 12 0.86 intronic rs35011787 NIPBL AD NM_133433 exon21 c.56529+77A>G 0.180312 0.3036 Uncertain 5_37019354_G->A 5 37019354 37019354 G A snp 813.77 1/1 60 24 0 24 1.0 intronic rs300060 NIPBL AD NM_133433 exon25 c.65614-58G>A 0.619209 0.5089 Uncertain 5_37045841_A->G 5 37045841 37045841 A G snp 421.77 1/1 33 12 0 12 1.0 intronic rs301859 NIPBL AD NM_133433 exon37 c.91901+142A>G 0.621006 0.5099 Uncertain 5_37061261_A->G 5 37061261 37061261 A G snp 182.9 1/1 15 7 0 7 1.0 intronic rs188541 NIPBL AD NM_133433 exon45 c.107322+141A>G 0.621805 0.5099 Uncertain 5_37139291_T->G 5 37139291 37139291 T G snp 269.77 0/1 99 16 5 11 0.69 intronic rs301870 C5orf42 AR NM_023073 exon9 c.31738-150T>G 0.141374 0.0665 Uncertain 5_37173930_A->C 5 37173930 37173930 A C snp 2583.77 0/1 99 247 135 112 0.45 exonic rs10076911 C5orf42 AR nonsynonymous SNV NM_023073 exon32 c.T6098G p.F2033C 0.172724 0.0903 0.175765 0.1351 0.0836 0.26 T 0.0 P -0.912 T 0.0 T 0.0 T CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000145376.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 5_37176091_A->G 5 37176091 37176091 A G snp 655.77 0/1 99 49 21 28 0.57 splicing rs10805625 C5orf42 AR NM_023073 exon22 c.68385+3A>G 0.142372 0.0675 0.148701 0.1239 0.0552 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000145374.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 5_37182902_G->A 5 37182902 37182902 G A snp 1635.77 0/1 99 161 90 71 0.44 exonic rs75589774 C5orf42 AR nonsynonymous SNV NM_023073 exon26 c.C5381T p.P1794L 0.0948482 0.0665 0.100415 0.1109 0.0553 1 T 0.001 P -1.038 T 0.383 T 0.155 T CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000145368.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 ID=CM123084;DIS=Monomelic amyotrophy, association with;TAG=DP;PUB=22264561 DP Pathogenic 5_37187489_G->A 5 37187489 37187489 G A snp 273.77 0/1 99 15 5 10 0.67 intronic rs78164677 C5orf42 AR NM_023073 exon30 c.79812-26G>A 0.144968 0.0655 0.150223 0.1277 0.0547 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000145362.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 5_37206621_T->C 5 37206621 37206621 T C snp 43.77 0/1 72 4 2 2 0.5 intronic rs12658479 C5orf42 AR NM_023073 exon36 c.98824+94T>C 0.212859 0.3641 Uncertain 5_37224485_T->C 5 37224485 37224485 T C snp 373.77 0/1 99 28 13 15 0.54 intronic rs77589724 C5orf42 AR NM_023073 exon39 c.116732+50T>C 0.109225 0.0893 0.1222 0.1381 Uncertain 5_37239732_G->C 5 37239732 37239732 G C snp 311.77 0/1 99 25 11 14 0.56 intronic rs78378437 C5orf42 AR NM_023073 exon46 c.132111-82G>C 0.0239617 0.0873 Uncertain 5_37245452_T->C 5 37245452 37245452 T C snp 56.74 1/1 6 2 0 2 1.0 intronic rs12514076 C5orf42 AR NM_023073 exon49 c.137877-128T>C 0.257987 0.0893 Uncertain 5_37247700_G->A 5 37247700 37247700 G A snp 1793.77 1/1 99 67 0 67 1.0 intronic rs6876576 C5orf42 AR NM_023073 exon51 c.140016-19G>A 0.9998 0.999 0.9999 0.9984 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000145381.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 5_37292239_G->A 5 37292239 37292239 G A snp 729.77 0/1 99 65 34 31 0.48 intronic rs216392 NUP155 AR NM_153485 exon1 c.139+99G>A 0.355431 0.124 Uncertain 5_37294473_T->C 5 37294473 37294473 T C snp 470.77 0/1 99 45 25 20 0.44 exonic rs1045908 NUP155 AR synonymous SNV NM_153485 exon33 c.A3888G p.L1296L 0.277157 0.3829 0.242580 0.3079 0.3948 Uncertain 5_37299794_A->C 5 37299794 37299794 A C snp 125.78 0/1 27 5 1 4 0.8 intronic rs12518867 NUP155 AR NM_153485 exon5 c.7669+124A>C 0.102636 0.0942 Uncertain 5_37309372_AGA->- 5 37309372 37309374 AGA - indel 544.73 0/1 99 43 27 16 0.37 splicing rs3835198 NUP155 AR NM_153485 exon12 c.17368+3_17368+5delAGA 0.269169 0.3631 0.239978 0.2997 0.3760 Pathogenic 5_37318295_G->T 5 37318295 37318295 G T snp 695.77 1/1 51 22 0 22 1.0 intronic rs217797 NUP155 AR NM_153485 exon15 c.26186+108G>T 0.60603 0.4851 Uncertain 5_37325940_T->C 5 37325940 37325940 T C snp 347.77 0/1 99 30 12 18 0.6 intronic rs79019688 NUP155 AR NM_153485 exon17 c.34001-62T>C 0.147963 0.123 0.137659 Uncertain 5_37330270_T->C 5 37330270 37330270 T C snp 982.77 0/1 99 73 30 43 0.59 intronic rs149788309 NUP155 AR NM_153485 exon21 c.38233+36T>C 0.000998403 0.004 0.0004 0.0033 Uncertain 5_37331985_G->T 5 37331985 37331985 G T snp 457.77 0/1 99 28 14 14 0.5 intronic rs13170025 NUP155 AR NM_153485 exon22 c.39896+88G>T 0.188299 0.2976 Uncertain 5_37333727_A->G 5 37333727 37333727 A G snp 532.77 0/1 99 39 21 18 0.46 exonic rs150594 NUP155 AR synonymous SNV NM_153485 exon13 c.T1356C p.A452A 0.355032 0.123 0.353606 0.2343 0.1224 Uncertain 5_37341352_T->C 5 37341352 37341352 T C snp 1566.77 0/1 99 137 70 67 0.49 intronic rs13172306 NUP155 AR NM_153485 exon25 c.49343+8T>C 0.188698 0.2976 0.161464 0.2075 0.3149 Uncertain 5_37341502_C->T 5 37341502 37341502 C T snp 44.78 0/1 27 3 1 2 0.67 intronic rs76297010 NUP155 AR NM_153485 exon25 c.49343+158C>T 0.21246 0.123 Uncertain 5_37350390_C->A 5 37350390 37350390 C A snp 1513.77 0/1 99 97 36 61 0.63 intronic rs217776 NUP155 AR NM_153485 exon29 c.58366+23C>A 0.33766 0.123 0.339382 0.2260 0.1226 Uncertain 5_37364443_C->T 5 37364443 37364443 C T snp 3540.77 1/1 99 138 0 138 1.0 exonic rs217852 NUP155 AR synonymous SNV NM_153485 exon2 c.G201A p.L67L 0.969649 1 0.966323 0.9905 1 Uncertain 5_37379567_G->A 5 37379567 37379567 G A snp 1115.77 0/1 99 90 46 44 0.49 intronic rs181030055 WDR70 AU NM_018034 exon2 c.121-23G>A 0.000798722 0.004 9.293e-05 0.0013 Uncertain 5_37516809_A->T 5 37516809 37516809 A T snp 141.03 1/1 12 4 0 4 1.0 intronic rs13176408 WDR70 AU NM_018034 exon9 c.137223+117A>T 0.279952 0.4881 Uncertain 5_37516814_C->T 5 37516814 37516814 C T snp 133.03 1/1 12 4 0 4 1.0 intronic rs1967541 WDR70 AU NM_018034 exon9 c.137223+122C>T Uncertain 5_37724933_ATT->- 5 37724933 37724935 ATT - indel 1540.73 1/1 78 26 0 26 1.0 intronic rs3074547 WDR70 AU NM_018034 exon16 c.345566-102_345566-100delATT 0.356829 0.5446 Uncertain 5_37724990_G->A 5 37724990 37724990 G A snp 1186.77 1/1 87 44 0 44 1.0 intronic rs7444391 WDR70 AU NM_018034 exon16 c.345566-45G>A 0.982628 1 0.981393 0.9946 1 Uncertain 5_37752415_A->G 5 37752415 37752415 A G snp 179.9 1/1 15 6 0 6 1.0 intronic rs1549252 WDR70 AU NM_018034 exon18 c.373118-172A>G 0.776757 0.999 Uncertain 5_37752460_T->C 5 37752460 37752460 T C snp 728.77 1/1 54 24 0 24 1.0 intronic rs1549251 WDR70 AU NM_018034 exon18 c.373118-127T>C 0.776558 0.999 Uncertain 5_37752497_A->G 5 37752497 37752497 A G snp 1049.77 1/1 75 39 0 39 1.0 intronic rs2973079 WDR70 AU NM_018034 exon18 c.373118-90A>G 0.911342 1 Uncertain 5_38305547_G->A 5 38305547 38305547 G A snp 2034.77 0/1 99 156 72 84 0.54 intronic rs2451018 EGFLAM AU NM_152403 exon2 c.78765-32074G>A 0.353435 0.2093 0.3 0.1818 Uncertain 5_38350643_G->A 5 38350643 38350643 G A snp 2154.77 0/1 99 196 106 90 0.46 exonic rs2561111 EGFLAM AU nonsynonymous SNV NM_001205301 exon4 c.G332A p.R111H 0.0832668 0.1419 0.075350 0.0855 0.1328 0.03 T 0.081 P -0.995 T 0.985 D 0.867 D Pathogenic 5_38352476_C->T 5 38352476 38352476 C T snp 954.77 0/1 99 72 33 39 0.54 intronic rs2589812 EGFLAM AU NM_152403 exon5 c.93577+43C>T 0.235823 0.2292 0.226895 0.1940 0.2210 Uncertain 5_38496779_C->T 5 38496779 38496779 C T snp 126.03 1/1 12 5 0 5 1.0 intronic rs3729741 LIFR AR NM_002310 exon8 c.15001+82C>T 0.31869 0.4067 Uncertain 5_38504303_A->T 5 38504303 38504303 A T snp 219.84 1/1 18 7 0 7 1.0 intronic rs16903989 LIFR AR NM_002310 exon11 c.22527+80A>T 0.315495 0.4038 Uncertain 5_38510482_C->- 5 38510482 38510482 C - indel 1299.73 1/1 99 38 0 38 1.0 intronic rs34968906 LIFR AR NM_002310 exon14 c.28869-83delC 0.477636 0.6607 Uncertain 5_38512154_T->C 5 38512154 38512154 T C snp 1040.77 1/1 78 28 0 28 1.0 intronic rs1037033 LIFR AR NM_002310 exon15 c.30370+88T>C 0.323882 0.4048 Uncertain 5_38528970_ACACACACACAG->- 5 38528970 38528981 ACACACACACAG - indel 3032.73 1/1 72 38 0 38 1.0 intronic rs3836782 LIFR AR NM_002310 exon18 c.47246+28_47246+39delACACACACACAG 0.2655 0.3091 Uncertain 5_38530486_A->- 5 38530486 38530486 A - indel 187.77 1/1 21 7 0 7 1.0 intronic rs11293177 LIFR AR NM_002310 exon19 c.48911-121delA 0.869409 0.9782 Uncertain 5_38820807_T->C 5 38820807 38820807 T C snp 542.77 0/1 99 32 10 22 0.69 ncRNA_intronic rs62354662 OSMR-AS1 AU 0.239816 0.3016 0.3218 0.3780 Uncertain 5_38823254_C->T 5 38823254 38823254 C T snp 1726.77 1/1 99 59 0 59 1.0 ncRNA_intronic rs369886 OSMR-AS1 AU 0.830671 0.9355 0.8182 0.9444 1 T -0.964 T Uncertain 5_38823306_A->G 5 38823306 38823306 A G snp 463.77 0/1 99 43 23 20 0.47 ncRNA_intronic rs62354666 OSMR-AS1 AU 0.248602 0.3244 0.3223 0.3351 Uncertain 5_38823344_A->G 5 38823344 38823344 A G snp 360.77 0/1 99 53 34 19 0.36 ncRNA_intronic rs12651771 OSMR-AS1 AU 0.310903 0.3938 0.2070 0.3056 Uncertain 5_38823358_C->A 5 38823358 38823358 C A snp 831.77 0/1 99 61 25 36 0.59 ncRNA_intronic rs581668 OSMR-AS1 AU Uncertain 5_38823462_A->G 5 38823462 38823462 A G snp 1175.77 0/1 99 132 77 55 0.42 ncRNA_intronic rs12651783 OSMR-AS1 AU 0.225639 0.5575 Uncertain 5_38876573_T->C 5 38876573 38876573 T C snp 429.77 1/1 33 11 0 11 1.0 intronic rs357271 OSMR AD NM_001168355 exon3 c.7329+98T>C 0.956669 0.8909 Uncertain 5_38876584_C->T 5 38876584 38876584 C T snp 264.8 1/1 21 8 0 8 1.0 intronic rs71621888 OSMR AD NM_001168355 exon3 c.7329+109C>T 0.150958 0.1528 Uncertain 5_38886423_A->G 5 38886423 38886423 A G snp 328.77 0/1 99 27 14 13 0.48 intronic rs74696378 OSMR AD NM_003999 exon7 c.17146+131A>G 0.0263578 0.0605 Uncertain 5_38904363_C->T 5 38904363 38904363 C T snp 566.77 1/1 45 15 0 15 1.0 intronic rs1239334 OSMR AD NM_003999 exon9 c.35308-91C>T 0.638379 0.624 Uncertain 5_38917574_G->A 5 38917574 38917574 G A snp 851.77 1/1 63 27 0 27 1.0 intronic rs357260 OSMR AD NM_003999 exon10 c.48501-73G>A 0.641174 0.6319 Uncertain 5_38917904_G->C 5 38917904 38917904 G C snp 375.77 1/1 30 11 0 11 1.0 intronic rs357262 OSMR AD NM_003999 exon10 c.48578+180G>C 0.674321 0.6319 Uncertain 5_38923171_T->C 5 38923171 38923171 T C snp 685.77 1/1 51 21 0 21 1.0 intronic rs357293 OSMR AD NM_003999 exon13 c.54105-80T>C 0.679912 0.631 Uncertain 5_38931919_G->A 5 38931919 38931919 G A snp 1810.77 1/1 99 53 0 53 1.0 intronic rs357277 OSMR AD NM_003999 exon16 c.62838-65G>A 0.625799 0.5962 Uncertain 5_38932466_A->C 5 38932466 38932466 A C snp 1639.77 1/1 99 55 0 55 1.0 intronic rs357278 OSMR AD NM_003999 exon17 c.63418-98A>C 0.414936 0.4603 Uncertain 5_38933749_C->T 5 38933749 38933749 C T snp 90.28 1/1 9 3 0 3 1.0 UTR3 rs1239344 OSMR AD 0.449081 0.5714 Uncertain 5_38950776_G->A 5 38950776 38950776 G A snp 5173.77 1/1 99 188 0 188 1.0 exonic rs2115949 RICTOR AU synonymous SNV NM_001285439 exon31 c.C3174T p.S1058S 0.949481 0.9881 0.952070 0.9658 0.9920 Uncertain 5_38953447_T->A 5 38953447 38953447 T A snp 46.74 1/1 6 2 0 2 1.0 intronic rs2115947 RICTOR AU NM_001285440 exon11 c.11157-115T>A 0.941294 0.9881 Uncertain 5_38953665_-->A 5 38953665 38953665 - A indel 247.74 1/1 30 14 0 14 1.0 intronic rs33912683 RICTOR AU NM_001285440 exon11 c.11250+10insA 0.934105 0.9881 0.899401 0.9376 0.9822 Uncertain 5_38954994_T->C 5 38954994 38954994 T C snp 612.77 1/1 45 23 0 23 1.0 intronic rs9292726 RICTOR AU NM_001285440 exon12 c.12558+31T>C 0.956669 0.9881 0.962940 0.9683 0.9921 Uncertain 5_38955796_G->A 5 38955796 38955796 G A snp 6273.77 1/1 99 235 0 235 1.0 exonic rs2043112 RICTOR AU nonsynonymous SNV NM_001285439 exon26 c.C2510T p.S837F 0.363818 0.4494 0.361833 0.3933 0.4747 0 D 0.383 P -0.951 T 0.207 T 0.074 T Pathogenic 5_38958968_A->C 5 38958968 38958968 A C snp 442.77 1/1 33 17 0 17 1.0 intronic rs6868591 RICTOR AU NM_001285440 exon16 c.16528+35A>C 0.869209 0.8859 0.922182 0.9126 0.9019 Uncertain 5_38959794_T->C 5 38959794 38959794 T C snp 172.9 1/1 15 6 0 6 1.0 intronic rs2115946 RICTOR AU NM_001285440 exon18 c.17475-86T>C 0.956669 0.9881 Uncertain 5_38962543_A->G 5 38962543 38962543 A G snp 1215.77 1/1 87 47 0 47 1.0 intronic rs7729745 RICTOR AU NM_001285440 exon21 c.20181-43A>G 0.9375 0.9881 0.946412 0.9641 0.9923 Uncertain 5_38966903_-->T 5 38966903 38966903 - T indel 76.74 0/1 27 30 3 27 0.9 intronic rs11435048 RICTOR AU NM_001285440 exon24 c.24418+80insT Uncertain 5_38971865_A->G 5 38971865 38971865 A G snp 99.28 1/1 9 4 0 4 1.0 intronic rs13165709 RICTOR AU NM_001285440 exon28 c.29573-113A>G 0.370407 0.4504 Uncertain 5_38971912_T->A 5 38971912 38971912 T A snp 377.77 1/1 30 13 0 13 1.0 intronic rs7732615 RICTOR AU NM_001285440 exon28 c.29573-66T>A 0.941094 0.9881 0.9607 0.9918 Uncertain 5_38990944_-->AT 5 38990944 38990944 - AT indel 297.75 1/1 24 8 0 8 1.0 intronic rs202027493 RICTOR AU NM_001285440 exon32 c.48645-106insAT 0.585463 0.5764 Uncertain 5_38990946_G->T 5 38990946 38990946 G T snp 327.78 1/1 27 9 0 9 1.0 intronic rs55781180 RICTOR AU NM_001285440 exon32 c.48645-104G>T 0.585463 0.5764 Uncertain 5_38990957_T->G 5 38990957 38990957 T G snp 393.77 1/1 30 13 0 13 1.0 intronic rs56213103 RICTOR AU NM_001285440 exon32 c.48645-93T>G Uncertain 5_39021369_G->A 5 39021369 39021369 G A snp 506.77 1/1 39 14 0 14 1.0 intronic rs13177690 RICTOR AU NM_001285440 exon36 c.78833+131G>A Uncertain 5_39074296_G->C 5 39074296 39074296 G C snp 7543.77 1/1 99 249 1 248 1.0 intronic rs2303808 RICTOR AU NM_001285440 exon37 c.131855+36G>C 0.426717 0.4702 0.418295 0.4444 0.4907 Uncertain 5_39107353_T->A 5 39107353 39107353 T A snp 216.84 1/1 18 6 0 6 1.0 UTR3 rs404122 FYB AU 0.682708 0.5129 Uncertain 5_39108309_A->G 5 39108309 39108309 A G snp 910.77 1/1 66 37 0 37 1.0 intronic rs377022 FYB AU NM_001465 exon2 c.788-23A>G 0.716254 0.625 0.752148 0.7848 0.6215 Uncertain 5_39108322_A->G 5 39108322 39108322 A G snp 854.77 1/1 60 36 0 36 1.0 intronic rs430630 FYB AU NM_001465 exon2 c.788-10A>G 0.85643 0.8155 0.864408 0.9053 0.8401 Uncertain 5_39119723_C->A 5 39119723 39119723 C A snp 1366.77 1/1 96 53 0 53 1.0 exonic rs379707 FYB AU nonsynonymous SNV NM_001465 exon15 c.G2152T p.V718F 0.511781 0.4147 0.564131 0.6389 0.4648 0.62 T 0.0 P -0.950 T 0.0 T 0.0 T Pathogenic 5_39130579_G->T 5 39130579 39130579 G T snp 150.78 0/1 24 6 1 5 0.83 intronic rs117541148 FYB AU NM_001465 exon10 c.23147-112G>T 0.00239617 0.0119 Uncertain 5_39342308_C->T 5 39342308 39342308 C T snp 380.77 0/1 99 48 30 18 0.38 intronic rs476569 C9 AU NM_001737 exon10 c.56998+10C>T 0.627796 0.498 0.606336 0.5364 0.5109 Uncertain 5_39375082_C->T 5 39375082 39375082 C T snp 616.77 0/1 99 62 34 28 0.45 intronic rs2686162 DAB2 AU 0.346046 0.3026 0.397278 0.4364 0.3225 Uncertain 5_39377418_G->A 5 39377418 39377418 G A snp 560.77 0/1 99 50 25 25 0.5 intronic rs2738238 DAB2 AU NM_001343 exon4 c.2264+34G>A 0.334864 0.3046 0.385053 0.4347 0.3202 Uncertain 5_39389110_C->T 5 39389110 39389110 C T snp 1165.77 0/1 99 83 37 46 0.55 intronic rs145786157 DAB2 AU NM_001343 exon9 c.14078-88C>T 0.00199681 0.0099 Uncertain 5_39390061_C->A 5 39390061 39390061 C A snp 432.77 0/1 99 37 14 23 0.62 intronic rs2855512 DAB2 AU NM_001343 exon10 c.14914+27C>A 0.896166 0.5952 0.996307 0.9524 0.6403 Uncertain 5_39393625_G->A 5 39393625 39393625 G A snp 152.77 0/1 99 8 3 5 0.63 intronic rs2071037 DAB2 AU NM_001343 exon13 c.18375+130G>A 0.896166 0.5952 Uncertain 5_39394493_G->C 5 39394493 39394493 G C snp 221.77 0/1 99 21 11 10 0.48 UTR5 rs1050903 DAB2 AU 0.219649 0.2034 Uncertain 5_40716153_C->A 5 40716153 40716153 C A snp 994.77 1/1 75 27 0 27 1.0 UTR3 rs10737963 TTC33 AU 0.844848 0.999 Uncertain 5_40746885_A->T 5 40746885 40746885 A T snp 1654.77 1/1 99 56 0 56 1.0 intronic rs3805497 TTC33 AU NM_012382 exon4 c.30653-14A>T 0.350439 0.5526 0.273692 0.3223 0.5682 Uncertain 5_40767458_C->T 5 40767458 40767458 C T snp 54.74 1/1 6 2 0 2 1.0 intronic rs1002423 PRKAA1 AU NM_006251 exon4 c.4688-109C>T 0.359824 0.5546 Uncertain 5_40772071_C->G 5 40772071 40772071 C G snp 1108.77 1/1 81 36 0 36 1.0 intronic rs837103 PRKAA1 AU NM_006251 exon6 c.9086+106C>G 0.972843 0.8978 Uncertain 5_40777531_-->TA 5 40777531 40777531 - TA indel 7148.73 1/1 99 130 0 130 1.0 intronic rs144157386 PRKAA1 AU NM_006251 exon8 c.14667-15insTA 0.360823 0.5536 0.289678 0.3056 0.5510 Uncertain 5_40852451_C->G 5 40852451 40852451 C G snp 7449.77 1/1 99 248 1 247 1.0 exonic rs188934 CARD6 AU synonymous SNV NM_032587 exon3 c.C1017G p.T339T 0.998602 0.9931 0.9995 0.9933 Uncertain 5_40853048_C->T 5 40853048 40853048 C T snp 3027.77 0/1 99 250 134 116 0.46 exonic rs16870407 CARD6 AU synonymous SNV NM_032587 exon3 c.C1614T p.S538S 0.165136 0.3284 0.078041 0.1383 0.3041 Uncertain 5_40854682_T->C 5 40854682 40854682 T C snp 215.77 0/1 99 11 4 7 0.64 UTR3 rs1697938 CARD6 AU 0.602037 0.5694 Uncertain 5_40928792_T->A 5 40928792 40928792 T A snp 401.77 0/1 99 25 10 15 0.6 intronic rs2459467 C7 AU NM_000587 exon2 c.19025+55T>A 0.546925 0.5794 0.471403 Uncertain 5_40949997_C->T 5 40949997 40949997 C T snp 1133.77 1/1 81 39 0 39 1.0 intronic rs1450656 C7 AU NM_000587 exon9 c.40293-8C>T 0.658546 0.6825 0.673795 0.6909 0.7400 Uncertain 5_40955561_G->C 5 40955561 40955561 G C snp 4155.77 1/1 99 153 0 153 1.0 exonic rs1063499 C7 AU nonsynonymous SNV NM_000587 exon10 c.G1166C p.S389T 0.48123 0.5218 0.528631 0.5700 0.5720 0.12 T 0.000 P -0.903 T 0.939 T 0.666 D Pathogenic 5_40958027_G->A 5 40958027 40958027 G A snp 463.77 1/1 36 12 0 12 1.0 intronic rs2652323 C7 AU NM_000587 exon11 c.48422-107G>A 0.997604 1 Uncertain 5_40964816_C->A 5 40964816 40964816 C A snp 1160.77 0/1 99 84 45 39 0.46 intronic rs7713884 C7 AU NM_000587 exon14 c.55130-26C>A 0.309505 0.3661 0.260899 0.2552 0.3417 Uncertain 5_40972111_C->T 5 40972111 40972111 C T snp 2781.77 1/1 99 93 0 93 1.0 intronic rs10805655 C7 AU NM_000587 exon15 c.62792-393C>T 0.980032 1 0.9984 1 Uncertain 5_40972769_G->A 5 40972769 40972769 G A snp 110.77 0/1 99 8 4 4 0.5 intronic rs34641824 C7 AU NM_000587 exon15 c.62984+73G>A 0.226438 0.3681 Uncertain 5_40979790_A->T 5 40979790 40979790 A T snp 188.77 0/1 99 16 8 8 0.5 intronic rs2876849 C7 AU NM_000587 exon17 c.70114-36A>T 0.211462 0.3006 0.172271 0.2297 0.3084 Uncertain 5_40980086_T->C 5 40980086 40980086 T C snp 514.77 0/1 99 30 9 21 0.7 intronic rs1450664 C7 AU NM_000587 exon17 c.70299+75T>C 0.401358 0.2778 Uncertain 5_40980102_C->T 5 40980102 40980102 C T snp 250.77 0/1 99 25 16 9 0.36 intronic rs2292727 C7 AU NM_000587 exon17 c.70299+91C>T 0.298123 0.3006 Uncertain 5_40981375_G->A 5 40981375 40981375 G A snp 559.77 1/1 42 16 0 16 1.0 intronic rs3749519 C7 AU NM_000587 exon18 c.71781-118G>A 0.744409 0.7371 Uncertain 5_40981380_T->C 5 40981380 40981380 T C snp 261.77 0/1 99 19 9 10 0.53 intronic rs7731615 C7 AU NM_000587 exon18 c.71781-113T>C 0.38778 0.2778 Uncertain 5_40981398_C->T 5 40981398 40981398 C T snp 369.77 0/1 99 29 16 13 0.45 intronic rs41271065 C7 AU NM_000587 exon18 c.71781-95C>T 0.301118 0.3006 Uncertain 5_40981689_C->A 5 40981689 40981689 C A snp 797.77 0/1 99 65 35 30 0.46 UTR3 rs1061429 C7 AU 0.38778 0.2778 0.408022 0.4385 0.3260 Uncertain 5_40998196_T->C 5 40998196 40998196 T C snp 2807.77 1/1 99 103 0 103 1.0 exonic rs704040 MROH2B AU synonymous SNV NM_173489 exon42 c.A4716G p.Q1572Q 0.623203 0.7252 0.651372 0.6354 0.7001 Uncertain 5_40998235_C->T 5 40998235 40998235 C T snp 1948.77 1/1 99 72 0 72 1.0 exonic rs722575 MROH2B AU synonymous SNV NM_173489 exon42 c.G4677A p.P1559P 0.326478 0.2956 0.370355 0.3737 0.2987 Uncertain 5_40998814_T->A 5 40998814 40998814 T A snp 3850.77 1/1 99 129 0 129 1.0 intronic rs2876850 MROH2B AU NM_173489 exon2 c.626+35T>A 0.327077 0.2956 0.372099 0.3996 0.3422 Uncertain 5_40999900_T->A 5 40999900 40999900 T A snp 1575.77 1/1 99 56 0 56 1.0 intronic rs1376175 MROH2B AU NM_173489 exon3 c.1728+19T>A 0.403355 0.2966 0.464992 0.4220 0.2996 Uncertain 5_41000169_T->C 5 41000169 41000169 T C snp 40.77 0/1 31 3 1 2 0.67 intronic rs1376176 MROH2B AU NM_173489 exon4 c.2168-152T>C 0.401158 0.2857 Uncertain 5_41000243_G->A 5 41000243 41000243 G A snp 168.77 0/1 99 13 7 6 0.46 intronic rs1376177 MROH2B AU NM_173489 exon4 c.2168-78G>A 0.323682 0.2847 Uncertain 5_41000343_G->A 5 41000343 41000343 G A snp 1223.77 0/1 99 94 41 53 0.56 exonic rs1001420 MROH2B AU synonymous SNV NM_173489 exon39 c.C4461T p.Y1487Y 0.636781 0.7143 0.680789 0.6620 0.6861 Uncertain 5_41001023_G->A 5 41001023 41001023 G A snp 727.77 0/1 99 50 22 28 0.56 intronic rs2167229 MROH2B AU NM_173489 exon5 c.2782+88G>A 0.634385 0.7143 Uncertain 5_41004396_G->T 5 41004396 41004396 G T snp 2819.77 1/1 99 94 0 94 1.0 intronic rs7712140 MROH2B AU NM_173489 exon6 c.6294-51G>T 0.852835 0.8661 Uncertain 5_41004406_A->T 5 41004406 41004406 A T snp 1330.77 0/1 99 107 50 57 0.53 intronic rs7711722 MROH2B AU NM_173489 exon6 c.6294-41A>T 0.390974 0.2847 0.453890 0.4141 0.2884 Uncertain 5_41004807_C->T 5 41004807 41004807 C T snp 110.77 0/1 99 13 8 5 0.38 intronic rs2305314 MROH2B AU NM_173489 exon7 c.6722-68C>T 0.60643 0.755 Uncertain 5_41005527_C->T 5 41005527 41005527 C T snp 104.77 0/1 95 7 3 4 0.57 intronic rs113850158 MROH2B AU NM_173489 exon8 c.7479-105C>T Uncertain 5_41005791_T->C 5 41005791 41005791 T C snp 1081.77 0/1 99 107 61 46 0.43 intronic rs10941529 MROH2B AU NM_173489 exon8 c.7594+44T>C 0.627596 0.754 0.631665 0.6412 0.7417 Uncertain 5_41008650_A->G 5 41008650 41008650 A G snp 222.84 1/1 18 6 0 6 1.0 intronic rs2271705 MROH2B AU NM_173489 exon10 c.10554-57A>G 0.778155 0.5823 Uncertain 5_41008780_A->G 5 41008780 41008780 A G snp 2116.77 1/1 99 84 2 82 0.98 exonic rs2271704 MROH2B AU nonsynonymous SNV NM_173489 exon33 c.T3536C p.L1179P 0.78155 0.5913 0.838465 0.8028 0.6166 1 T 0.573 P -1.034 T 0.0 T 0.0 T Pathogenic 5_41009067_G->A 5 41009067 41009067 G A snp 46.77 0/1 31 3 1 2 0.67 intronic rs57467828 MROH2B AU NM_173489 exon10 c.10742+172G>A 0.426917 0.3373 Uncertain 5_41009484_C->T 5 41009484 41009484 C T snp 1303.77 0/1 99 129 77 52 0.4 exonic rs77379102 MROH2B AU synonymous SNV NM_173489 exon32 c.G3318A p.A1106A 0.00319489 0.0149 0.0017 0.0216 Uncertain 5_41009899_A->G 5 41009899 41009899 A G snp 212.77 0/1 99 17 10 7 0.41 intronic rs1878290 MROH2B AU NM_173489 exon12 c.11870-124A>G 0.347644 0.245 Uncertain 5_41012511_T->G 5 41012511 41012511 T G snp 70.77 0/1 67 5 2 3 0.6 intronic rs6898235 MROH2B AU NM_173489 exon13 c.14531-173T>G 0.430711 0.3373 Uncertain 5_41012615_A->G 5 41012615 41012615 A G snp 1034.77 0/1 99 75 36 39 0.52 intronic rs6876879 MROH2B AU NM_173489 exon13 c.14531-69A>G 0.428315 0.3363 Uncertain 5_41012616_A->C 5 41012616 41012616 A C snp 1091.77 0/1 99 76 36 40 0.53 intronic rs6876880 MROH2B AU NM_173489 exon13 c.14531-68A>C 0.430511 0.3373 Uncertain 5_41018452_A->T 5 41018452 41018452 A T snp 2102.77 0/1 99 190 95 95 0.5 exonic rs10054110 MROH2B AU nonsynonymous SNV NM_173489 exon27 c.T2754A p.N918K 0.345647 0.245 0.335647 0.3762 0.2912 0.29 T 0.0 P -0.966 T 0.001 T 0.003 T Pathogenic 5_41018677_T->C 5 41018677 41018677 T C snp 261.8 1/1 21 7 0 7 1.0 intronic rs6862217 MROH2B AU NM_173489 exon17 c.20639-115T>C 0.776957 0.5823 Uncertain 5_41019229_A->T 5 41019229 41019229 A T snp 116.77 0/1 99 9 5 4 0.44 intronic rs896118 MROH2B AU NM_173489 exon18 c.20967+109A>T 0.430112 0.3373 Uncertain 5_41032998_A->G 5 41032998 41032998 A G snp 3135.77 1/1 99 94 0 94 1.0 intronic rs325831 MROH2B AU NM_173489 exon19 c.34770+75A>G 0.728435 0.6696 Uncertain 5_41033112_G->A 5 41033112 41033112 G A snp 2643.77 0/1 99 208 91 117 0.56 intronic rs4957367 MROH2B AU NM_173489 exon20 c.34989-30G>A 0.523363 0.3581 0.613901 0.6172 0.3541 Uncertain 5_41033910_TCTATCTATCTATC->- 5 41033910 41033923 TCTATCTATCTATC - indel 4461.73 0/1 99 65 22 43 0.66 intronic rs143823987 MROH2B AU NM_173489 exon21 c.35786-29_35786-16delTCTATCTATCTATC 0.198561 0.2451 0.3686 Uncertain 5_41033931_C->T 5 41033931 41033931 C T snp 601.77 0/1 99 90 61 29 0.32 intronic rs10434576 MROH2B AU NM_173489 exon21 c.35786-8C>T 0.0617 0.0236 Uncertain 5_41033992_G->T 5 41033992 41033992 G T snp 2260.77 0/1 99 202 104 98 0.49 intronic rs67027762 MROH2B AU NM_173489 exon21 c.35813+26G>T 0.167332 0.1776 0.164035 0.2485 0.1838 Uncertain 5_41034181_A->G 5 41034181 41034181 A G snp 1652.77 1/1 99 44 0 44 1.0 intronic rs325833 MROH2B AU NM_173489 exon21 c.35813+215A>G 0.728435 0.6696 Uncertain 5_41039000_A->G 5 41039000 41039000 A G snp 2913.77 1/1 99 114 0 114 1.0 intronic rs325849 MROH2B AU NM_173489 exon22 c.40837+10A>G 0.728834 0.6696 0.772920 0.7791 0.6461 Uncertain 5_41042284_G->T 5 41042284 41042284 G T snp 2413.77 1/1 99 88 0 88 1.0 exonic rs325854 MROH2B AU synonymous SNV NM_173489 exon19 c.C1863A p.T621T 0.714657 0.6657 0.773864 0.8040 0.6879 Uncertain 5_41045731_T->- 5 41045731 41045731 T - indel 805.73 1/1 77 30 1 29 0.97 intronic rs11297360 MROH2B AU NM_173489 exon25 c.47694-116delT 0.669928 0.622 Uncertain 5_41045768_G->A 5 41045768 41045768 G A snp 2759.77 1/1 99 92 1 91 0.99 intronic rs325860 MROH2B AU NM_173489 exon25 c.47694-79G>A 0.806709 0.6776 Uncertain 5_41045835_C->G 5 41045835 41045835 C G snp 1682.77 0/1 99 164 86 78 0.48 intronic rs6864243 MROH2B AU NM_173489 exon25 c.47694-12C>G 0.607543 0.6239 0.4307 Uncertain 5_41048388_T->G 5 41048388 41048388 T G snp 581.77 0/1 99 43 19 24 0.56 intronic rs325861 MROH2B AU NM_173489 exon27 c.50272-37T>G 0.13778 0.2103 0.115874 0.1446 0.2002 Uncertain 5_41048770_A->G 5 41048770 41048770 A G snp 48.74 1/1 6 2 0 2 1.0 intronic rs325862 MROH2B AU NM_173489 exon27 c.50414+203A>G 0.999401 1 Uncertain 5_41049389_T->C 5 41049389 41049389 T C snp 3974.77 1/1 99 146 0 146 1.0 exonic rs325863 MROH2B AU synonymous SNV NM_173489 exon14 c.A1494G p.T498T 0.80631 0.6776 0.868586 0.8485 0.6644 Uncertain 5_41049397_C->T 5 41049397 41049397 C T snp 3922.77 1/1 99 147 0 147 1.0 exonic rs325864 MROH2B AU nonsynonymous SNV NM_173489 exon14 c.G1486A p.V496I 0.80611 0.6776 0.868956 0.8485 0.6640 0.49 T 0.000 P -1.087 T 0.0 T 0.001 T Pathogenic 5_41050999_C->T 5 41050999 41050999 C T snp 2320.77 1/1 99 75 0 75 1.0 intronic rs325866 MROH2B AU NM_173489 exon30 c.52925-79C>T 0.80611 0.6776 Uncertain 5_41054934_A->G 5 41054934 41054934 A G snp 1788.77 0/1 99 173 87 86 0.5 exonic rs325874 MROH2B AU synonymous SNV NM_173489 exon11 c.T1042C p.L348L 0.214457 0.2222 0.219986 0.2100 0.2033 Uncertain 5_41057562_T->C 5 41057562 41057562 T C snp 851.77 1/1 63 26 0 26 1.0 intronic rs618334 MROH2B AU NM_173489 exon35 c.59309+100T>C 0.78155 0.6617 Uncertain 5_41061715_C->T 5 41061715 41061715 C T snp 1700.77 0/1 99 138 65 73 0.53 exonic rs1023840 MROH2B AU stopgain NM_173489 exon6 c.G572A p.W191X 0.208267 0.2996 0.152989 0.2264 0.2964 0.02 T 1.0 P Pathogenic 5_41061716_A->G 5 41061716 41061716 A G snp 4078.77 1/1 99 143 0 143 1.0 exonic rs865093 MROH2B AU nonsynonymous SNV NM_173489 exon6 c.T571C p.W191R 0.783746 0.6617 0.846452 0.8166 0.6536 0.44 T 0.000 P -0.983 T 0.0 T 0.0 T Pathogenic 5_41061871_T->C 5 41061871 41061871 T C snp 2005.77 0/1 99 132 50 82 0.62 intronic rs587412 MROH2B AU NM_173489 exon37 c.63673+45T>C 0.437101 0.3522 0.530066 0.5044 0.3589 Uncertain 5_41149235_A->G 5 41149235 41149235 A G snp 379.77 0/1 99 26 12 14 0.54 intronic rs1014587 C6 AU NM_000065 exon2 c.6416-107A>G 0.315495 0.3085 Uncertain 5_41149284_G->A 5 41149284 41149284 G A snp 1073.77 0/1 99 90 46 44 0.49 intronic rs1014588 C6 AU NM_000065 exon2 c.6416-58G>A Uncertain 5_41154150_A->C 5 41154150 41154150 A C snp 517.77 0/1 99 50 28 22 0.44 intronic rs4957374 C6 AU NM_000065 exon4 c.11174+50A>C 0.848842 0.7817 0.864217 0.8563 0.7993 Uncertain 5_41158671_T->C 5 41158671 41158671 T C snp 717.77 0/1 99 41 15 26 0.63 intronic rs10075985 C6 AU NM_000065 exon6 c.15849-104T>C 0.85004 0.7817 Uncertain 5_41158863_G->A 5 41158863 41158863 G A snp 4464.77 1/1 99 177 0 177 1.0 exonic rs6866352 C6 AU synonymous SNV NM_000065 exon13 c.C1881T p.D627D 0.998203 0.9911 0.9996 0.9937 Uncertain 5_41199959_G->T 5 41199959 41199959 G T snp 675.77 0/1 99 83 51 32 0.39 exonic rs1801033 C6 AU nonsynonymous SNV NM_000065 exon4 c.C356A p.A119E 0.553914 0.4395 0.608412 0.5936 0.4329 0.41 T 0.000 P -1.009 T 0.0 T 0.001 T Pathogenic 5_41382681_G->T 5 41382681 41382681 G T snp 1432.77 0/1 99 113 54 59 0.52 intronic rs319013 PLCXD3 AU NM_001005473 exon2 c.68918+45G>T 0.565895 0.5238 0.587956 0.6067 0.5462 Uncertain 5_41382691_C->A 5 41382691 41382691 C A snp 1140.77 0/1 99 96 48 48 0.5 intronic rs545358 PLCXD3 AU NM_001005473 exon2 c.68918+55C>A 0.822484 0.5565 Uncertain 5_41840504_-->ATT 5 41840504 41840504 - ATT indel 480.73 0/1 99 33 20 13 0.39 intronic rs775062753 OXCT1 AU NM_000436 exon11 c.108722-48insATT 0.000319 Uncertain 5_41840506_C->A 5 41840506 41840506 C A snp 257.77 0/1 99 34 19 15 0.44 intronic rs201776846 OXCT1 AU NM_000436 exon11 c.108722-46C>A 8.28e-06 0.0001 Uncertain 5_41840507_A->T 5 41840507 41840507 A T snp 250.77 0/1 99 34 21 13 0.38 intronic rs767498883 OXCT1 AU NM_000436 exon11 c.108722-45A>T 8.28e-06 0.0001 Uncertain 5_41842939_G->C 5 41842939 41842939 G C snp 1366.77 0/1 99 113 58 55 0.49 intronic rs17847293 OXCT1 AU NM_000436 exon12 c.111053+56G>C 0.0121805 0.0446 Uncertain 5_42565843_C->T 5 42565843 42565843 C T snp 1861.77 1/1 99 56 0 56 1.0 intronic rs12521020 GHR AU,AD,AR NM_001242399 exon2 c.141275-122C>T 0.319489 0.1845 Uncertain 5_42566166_A->T 5 42566166 42566166 A T snp 1026.77 1/1 75 32 0 32 1.0 intronic rs10941579 GHR AU,AD,AR NM_000163 exon2 c.70+120A>T 0.328075 0.1845 Uncertain 5_42646260_-->T 5 42646260 42646260 - T indel 786.73 1/1 66 22 0 22 1.0 intronic rs11415813 GHR AU,AD,AR NM_000163 exon3 c.63229+17055insT 0.341254 0.2024 Uncertain 5_42646552_-->T 5 42646552 42646552 - T indel 161.86 0/1 2 21 1 20 0.95 intronic rs201498664 GHR AU,AD,AR NM_000163 exon3 c.63229+17347insT 0.0605032 0.1478 Uncertain 5_42713631_G->C 5 42713631 42713631 G C snp 463.77 0/1 99 50 29 21 0.42 intronic rs35111599 GHR AU,AD,AR NM_000163 exon8 c.147645+10G>C 0.00159744 0.0079 0.0007 0.0089 Uncertain 5_42715138_G->A 5 42715138 42715138 G A snp 486.77 1/1 36 18 0 18 1.0 intronic rs2910879 GHR AU,AD,AR NM_000163 exon8 c.147645+1517G>A 0.0852636 0.1518 Uncertain 5_42718335_G->A 5 42718335 42718335 G A snp 472.77 1/1 36 13 0 13 1.0 intronic rs76362844 GHR AU,AD,AR NM_000163 exon9 c.152247+112G>A 0.828674 0.998 Uncertain 5_42718347_G->A 5 42718347 42718347 G A snp 337.78 1/1 27 9 0 9 1.0 intronic rs2972782 GHR AU,AD,AR NM_000163 exon9 c.152247+124G>A 0.091254 0.1518 ID=COSN167452;OCCURENCE=1(large_intestine) Uncertain 5_42718928_G->T 5 42718928 42718928 G T snp 7025.77 1/1 99 239 0 239 1.0 exonic rs6182 GHR AU,AD,AR nonsynonymous SNV NM_000163 exon10 c.G1319T p.C440F 0.0752796 0.1518 0.007304 0.0403 0.1254 0.03 T 1 N -1.032 T 0.087 T 0.075 T ID=CM930316;DIS=Laron dwarfism;TAG=DP;PUB=8421103 DP Pathogenic 5_42719344_C->A 5 42719344 42719344 C A snp 4536.77 1/1 99 147 0 147 1.0 exonic rs6184 GHR AU,AD,AR nonsynonymous SNV NM_000163 exon10 c.C1735A p.P579T 0.0752796 0.1518 0.007304 0.0404 0.1267 0.03 T 1 N -1.054 T 0.007 T 0.069 T ID=CM930317;DIS=Laron dwarfism;TAG=DP;PUB=8421103 DP Pathogenic 5_42769844_G->T 5 42769844 42769844 G T snp 611.77 1/1 45 21 0 21 1.0 intronic rs1109882 CCDC152 AU NM_001134848 exon4 c.10544+77G>T 0.808307 0.998 Uncertain 5_42799719_-->TTA 5 42799719 42799719 - TTA indel 1138.73 1/1 31 24 1 23 0.96 intronic rs28919930 CCDC152 AU NM_001134848 exon9 c.40537-41insTTA 0.535543 0.4266 0.526098 0.5451 0.4354 Uncertain 5_42799925_A->G 5 42799925 42799925 A G snp 1308.77 1/1 57 51 1 50 0.98 UTR3 rs16872762 CCDC152 AU 0.0758786 0.1518 0.007008 0.0725 0.1608 Uncertain 5_42805037_G->A 5 42805037 42805037 G A snp 351.78 1/1 27 11 0 11 1.0 intronic rs16872779 SEPP1 AU NM_001093726 exon2 c.4054+162G>A 0.0335463 0.1369 Uncertain 5_42807753_G->A 5 42807753 42807753 G A snp 2981.77 1/1 99 120 0 120 1.0 intronic rs28919894 SEPP1 AU NM_001093726 exon4 c.7431-499G>A 0.0756789 0.1508 Uncertain 5_43120098_A->G 5 43120098 43120098 A G snp 388.77 0/1 99 42 24 18 0.43 intergenic rs511340 LOC100506639 AU 0.427316 0.8254 0.4206 0.8769 0.05 T 0.0 P -1.064 T Uncertain 5_43123623_T->C 5 43123623 43123623 T C snp 56.74 1/1 6 2 0 2 1.0 intronic rs567884 ZNF131 AU NM_003432 exon3 c.1257+211T>C 0.361422 0.6151 Uncertain 5_43161337_A->G 5 43161337 43161337 A G snp 887.77 0/1 99 63 32 31 0.49 intronic rs903391 ZNF131 AU NM_003432 exon5 c.39195-13A>G 0.355232 0.6131 0.242781 0.3154 0.6463 Uncertain 5_43492265_T->C 5 43492265 43492265 T C snp 657.77 1/1 48 21 0 21 1.0 intronic rs6876588 C5orf34 AU NM_198566 exon4 c.5300-51T>C 0.99361 1 0.995225 Uncertain 5_43492978_G->A 5 43492978 43492978 G A snp 4303.77 1/1 99 153 0 153 1.0 exonic rs10039298 C5orf34 AU synonymous SNV NM_198566 exon9 c.C1329T p.N443N 0.99401 1 0.994618 0.9984 1 Uncertain 5_43493592_T->C 5 43493592 43493592 T C snp 214.84 1/1 18 7 0 7 1.0 intronic rs7732089 C5orf34 AU NM_198566 exon6 c.6628-52T>C 0.99401 1 0.994235 Uncertain 5_43506449_T->C 5 43506449 43506449 T C snp 1045.77 0/1 99 99 55 44 0.44 exonic rs17853711 C5orf34 AU synonymous SNV NM_198566 exon4 c.A333G p.T111T 0.029353 0.1438 0.000231 0.0107 0.1326 Uncertain 5_43509348_T->A 5 43509348 43509348 T A snp 2326.77 1/1 99 97 0 97 1.0 exonic rs6872851 C5orf34 AU nonsynonymous SNV NM_198566 exon2 c.A94T p.T32S 0.99401 1 0.994618 0.9984 1 1 T 0.0 P -0.961 T 0.0 T 0.0 T Pathogenic 5_43509462_-->C 5 43509462 43509462 - C indel 1786.73 1/1 99 45 0 45 1.0 UTR5 rs11415989 C5orf34 AU 0.982228 1 0.979077 0.9945 0.9999 Uncertain 5_43527673_C->G 5 43527673 43527673 C G snp 482.77 1/1 36 17 0 17 1.0 intronic rs4318791 PAIP1 AU NM_182789 exon1 c.94+102C>G 0.98103 1 Uncertain 5_43533992_A->G 5 43533992 43533992 A G snp 651.77 1/1 48 22 0 22 1.0 intronic rs11741521 PAIP1 AU NM_182789 exon3 c.6417+98A>G 0.99401 1 Uncertain 5_43649485_G->A 5 43649485 43649485 G A snp 395.77 0/1 99 35 19 16 0.46 intronic NNT AR NM_012343 exon11 c.40113+75G>A Uncertain 5_44809162_G->C 5 44809162 44809162 G C snp 2875.77 0/1 99 247 137 110 0.45 exonic rs3747479 MRPS30 AU nonsynonymous SNV NM_016640 exon1 c.G98C p.C33S 0.398562 0.5357 0.333438 0.4130 0.5489 0.58 T 0.0 P -0.923 T 0.0 T 0.002 T Pathogenic 5_49695048_C->T 5 49695048 49695048 C T snp 852.77 0/1 99 130 87 43 0.33 UTR3 rs4030567 EMB AU 0.205671 0.2847 Uncertain 5_49698180_G->A 5 49698180 49698180 G A snp 1464.77 0/1 99 148 85 63 0.43 intronic rs13172025 EMB AU NM_198449 exon3 c.3047+27G>A 0.518171 0.4831 0.516787 0.4569 0.4906 Uncertain 5_49698986_C->A 5 49698986 49698986 C A snp 679.77 0/1 99 49 22 27 0.55 intronic rs13154223 EMB AU NM_198449 exon4 c.3905-25C>A 0.51278 0.4742 0.3853 0.4033 Uncertain 5_49701520_TGT->- 5 49701520 49701522 TGT - indel 1476.73 0/1 99 64 33 31 0.48 intronic rs34041280 EMB AU NM_198449 exon5 c.6452-38_6452-36delTGT 0.412141 0.4742 0.389558 0.3575 0.4803 Uncertain 5_49701755_A->G 5 49701755 49701755 A G snp 555.77 0/1 99 57 31 26 0.46 intronic rs2271236 EMB AU NM_198449 exon5 c.6580+69A>G 0.518371 0.4841 Uncertain 5_50040778_T->C 5 50040778 50040778 T C snp 187.9 1/1 15 7 0 7 1.0 intronic rs282561 PARP8 AU NM_001178055 exon4 c.83055-5206T>C 0.895767 0.9643 Uncertain 5_50045967_G->T 5 50045967 50045967 G T snp 1903.77 1/1 99 75 0 75 1.0 intronic rs2442107 PARP8 AU NM_001178055 exon4 c.83055-17G>T 0.609026 0.6736 0.662283 0.5423 0.5153 Uncertain 5_50046139_A->G 5 50046139 50046139 A G snp 211.84 1/1 18 8 0 8 1.0 intronic rs282553 PARP8 AU NM_001178055 exon4 c.83093+117A>G 0.847045 0.9643 Uncertain 5_50052800_T->C 5 50052800 50052800 T C snp 506.77 1/1 39 16 0 16 1.0 intronic rs282551 PARP8 AU NM_001178055 exon5 c.92547-2676T>C 0.860024 0.9643 Uncertain 5_50052888_C->A 5 50052888 50052888 C A snp 2674.77 1/1 99 97 0 97 1.0 intronic rs282550 PARP8 AU NM_001178055 exon5 c.92547-2588C>A 0.896166 0.9643 Uncertain 5_50053015_G->A 5 50053015 50053015 G A snp 3397.77 1/1 99 123 0 123 1.0 intronic rs282549 PARP8 AU NM_001178055 exon5 c.92547-2461G>A 0.911741 0.995 0.8351 1 Uncertain 5_50055456_-->TT 5 50055456 50055456 - TT indel 132.77 1/1 21 21 0 21 1.0 intronic rs35211451 PARP8 AU NM_001178055 exon5 c.92547-20insTT 0.2249 0.2295 Uncertain 5_50057729_G->A 5 50057729 50057729 G A snp 2008.77 1/1 99 78 0 78 1.0 exonic rs282547 PARP8 AU synonymous SNV NM_001178055 exon7 c.G420A p.G140G 0.467851 0.6687 0.523143 0.5754 0.6397 Uncertain 5_50689203_T->C 5 50689203 50689203 T C snp 77.77 0/1 99 6 3 3 0.5 intronic ISL1 AU NM_002202 exon6 c.9822-124T>C Uncertain 5_52084365_G->C 5 52084365 52084365 G C snp 1511.77 0/1 99 121 55 66 0.55 intronic rs10067659 ITGA1 AU NM_181501 exon1 c.61+117G>C 0.65016 0.6974 Uncertain 5_52084441_C->A 5 52084441 52084441 C A snp 636.77 0/1 99 37 13 24 0.65 intronic rs2897351 ITGA1 AU NM_181501 exon1 c.61+193C>A Uncertain 5_52084500_G->C 5 52084500 52084500 G C snp 194.77 0/1 99 10 4 6 0.6 intronic rs7706108 ITGA1 AU NM_181501 exon1 c.61+252G>C 0.745208 0.6984 Uncertain 5_52096889_C->A 5 52096889 52096889 C A snp 913.77 0/1 99 87 46 41 0.47 exonic rs1499280 PELO AU nonsynonymous SNV NM_015946 exon2 c.C661A p.L221M 0.899361 0.8472 0.907812 0.9074 0.8299 0.82 T 0.767 P -0.983 T 0.09 T 0.136 T Pathogenic 5_52157374_T->C 5 52157374 52157374 T C snp 1233.77 0/1 99 113 59 54 0.48 exonic rs2447867 ITGA1 AU synonymous SNV NM_181501 exon3 c.T276C p.C92C 0.76238 0.5992 0.844456 0.7928 0.5755 Uncertain 5_52161500_-->C 5 52161500 52161500 - C indel 3236.73 0/1 99 135 54 81 0.6 intronic rs11427012 ITGA1 AU NM_181501 exon6 c.77336-23insC 0.557308 0.6478 0.464143 0.4768 0.6484 Uncertain 5_52193125_A->G 5 52193125 52193125 A G snp 42.78 0/1 27 3 1 2 0.67 intronic rs4074793 ITGA1 AU NM_181501 exon10 c.109098-160A>G 0.0543131 0.0694 Uncertain 5_52193237_A->G 5 52193237 52193237 A G snp 958.77 0/1 99 55 24 31 0.56 intronic rs870992 ITGA1 AU NM_181501 exon10 c.109098-48A>G 0.0573083 0.0694 0.065913 0.0770 0.0657 Uncertain 5_52193287_C->T 5 52193287 52193287 C T snp 4264.77 1/1 99 135 0 135 1.0 exonic rs1531545 ITGA1 AU synonymous SNV NM_181501 exon10 c.C1092T p.A364A 0.633786 0.624 0.565354 0.5547 0.6000 Uncertain 5_52193414_-->A 5 52193414 52193414 - A indel 9511.73 1/1 99 248 0 248 1.0 intronic rs377107895 ITGA1 AU NM_181501 exon10 c.109172+55insA 1 1 0.999840 Uncertain 5_52193518_A->C 5 52193518 52193518 A C snp 1759.77 1/1 99 58 0 58 1.0 intronic rs17829997 ITGA1 AU NM_181501 exon10 c.109172+159A>C 0.245807 0.3819 Uncertain 5_52194327_A->G 5 52194327 52194327 A G snp 143.03 1/1 12 5 0 5 1.0 intronic rs1979398 ITGA1 AU NM_181501 exon11 c.110026+114A>G 0.548722 0.5843 Uncertain 5_52201508_T->A 5 52201508 52201508 T A snp 612.77 1/1 45 18 0 18 1.0 intronic rs62357156 ITGA1 AU NM_181501 exon12 c.117405-84T>A 0.151558 0.256 Uncertain 5_52235225_A->G 5 52235225 52235225 A G snp 122.77 0/1 66 6 2 4 0.67 intronic rs10513004 ITGA1 AU NM_181501 exon25 c.151232-194A>G 0.121605 0.0843 Uncertain 5_52235582_A->T 5 52235582 52235582 A T snp 1285.77 0/1 99 112 61 51 0.46 intronic rs10940280 ITGA1 AU NM_181501 exon25 c.151334+61A>T 0.121805 0.0843 Uncertain 5_52235802_T->G 5 52235802 52235802 T G snp 2018.77 1/1 99 68 0 68 1.0 intronic rs1904165 ITGA1 AU NM_181501 exon26 c.151587+28T>G 0.848842 0.8899 0.867482 0.8712 0.8998 Uncertain 5_52235853_C->T 5 52235853 52235853 C T snp 604.77 0/1 99 33 13 20 0.61 intronic rs9637769 ITGA1 AU NM_181501 exon26 c.151587+79C>T 0.108826 0.1895 Uncertain 5_52235854_T->A 5 52235854 52235854 T A snp 357.77 0/1 99 32 19 13 0.41 intronic rs2447874 ITGA1 AU NM_181501 exon26 c.151587+80T>A 0.686901 0.7014 Uncertain 5_52243059_A->G 5 52243059 52243059 A G snp 996.77 1/1 75 26 0 26 1.0 intronic rs3764924 ITGA1 AU NM_181501 exon28 c.158987-115A>G 0.704073 0.7252 Uncertain 5_52243361_A->C 5 52243361 52243361 A C snp 1276.77 0/1 99 98 51 47 0.48 intronic rs3764923 ITGA1 AU NM_181501 exon28 c.159104+70A>C 0.488419 0.379 Uncertain 5_52248291_T->C 5 52248291 52248291 T C snp 430.77 0/1 99 31 12 19 0.61 UTR3 rs1054085 ITGA1 AU 0.581669 0.5357 0.656100 0.6597 0.6545 Uncertain 5_52337783_T->C 5 52337783 52337783 T C snp 77.77 0/1 69 5 2 3 0.6 intronic rs3212439 ITGA2 AD NM_002203 exon3 c.52643-158T>C 0.277556 0.2292 Uncertain 5_52337908_C->T 5 52337908 52337908 C T snp 2077.77 0/1 99 170 85 85 0.5 intronic rs3212441 ITGA2 AD NM_002203 exon3 c.52643-33C>T 0.277556 0.2292 0.269183 0.2891 0.2345 Uncertain 5_52338083_T->G 5 52338083 52338083 T G snp 1628.77 0/1 99 152 84 68 0.45 intronic rs1363192 ITGA2 AD NM_002203 exon3 c.52753+32T>G 0.277356 0.2282 0.269260 0.2892 0.2332 Uncertain 5_52341064_A->G 5 52341064 52341064 A G snp 392.77 0/1 99 22 7 15 0.68 intronic rs1421937 ITGA2 AD NM_002203 exon4 c.55624+142A>G 0.277556 0.2292 Uncertain 5_52344046_G->A 5 52344046 52344046 G A snp 41.77 0/1 66 4 2 2 0.5 intronic rs3212486 ITGA2 AD NM_002203 exon5 c.58894-146G>A 0.277955 0.2302 Uncertain 5_52344610_A->G 5 52344610 52344610 A G snp 2000.77 1/1 99 66 0 66 1.0 intronic rs1421933 ITGA2 AD NM_002203 exon6 c.59302+10A>G 0.702276 0.506 0.753114 0.7213 0.5242 Uncertain 5_52347369_C->T 5 52347369 52347369 C T snp 1650.77 0/1 99 141 68 73 0.52 exonic rs1126643 ITGA2 AD synonymous SNV NM_002203 exon7 c.C759T p.F253F 0.33766 0.2827 0.365754 0.3822 0.3018 ID=CM993453;DIS=Myocardial infarction, association with;TAG=DP;PUB=9950439 DP Uncertain 5_52351413_G->A 5 52351413 52351413 G A snp 3582.77 0/1 99 247 97 150 0.61 exonic rs1062535 ITGA2 AD synonymous SNV NM_002203 exon8 c.G825A p.T275T 0.374289 0.3847 0.3012 ID=CM993454;DIS=Myocardial infarction, association with;TAG=DP;PUB=9950439 DP Uncertain 5_52354103_A->T 5 52354103 52354103 A T snp 2591.77 1/1 99 82 0 82 1.0 intronic rs996765 ITGA2 AD NM_002203 exon10 c.68633+172A>T 0.799521 0.5685 Uncertain 5_52355854_T->C 5 52355854 52355854 T C snp 1370.77 0/1 99 109 47 62 0.57 intronic rs2303127 ITGA2 AD NM_002203 exon11 c.70544+12T>C 0.33726 0.2867 0.364909 0.3835 0.3012 Uncertain 5_52366138_G->A 5 52366138 52366138 G A snp 1229.77 0/1 99 113 59 54 0.48 intronic rs2112290 ITGA2 AD NM_002203 exon17 c.80792+48G>A 0.685304 0.4454 0.751346 0.7134 0.4539 Uncertain 5_52366162_G->A 5 52366162 52366162 G A snp 1001.77 0/1 99 77 37 40 0.52 intronic rs2303126 ITGA2 AD NM_002203 exon17 c.80792+72G>A 0.104633 0.1617 Uncertain 5_52367666_A->T 5 52367666 52367666 A T snp 785.77 0/1 99 80 45 35 0.44 intronic rs2287872 ITGA2 AD NM_002203 exon18 c.82469-101A>T 0.787141 0.5069 Uncertain 5_52367706_T->C 5 52367706 52367706 T C snp 1242.77 0/1 99 120 65 55 0.46 intronic rs2287871 ITGA2 AD NM_002203 exon18 c.82469-61T>C Uncertain 5_52368922_T->A 5 52368922 52368922 T A snp 874.77 0/1 99 50 18 32 0.64 intronic rs984966 ITGA2 AD NM_002203 exon20 c.83649-25T>A 0.33726 0.2857 0.366077 0.3840 0.3008 Uncertain 5_52370174_G->A 5 52370174 52370174 G A snp 2196.77 0/1 99 144 59 85 0.59 intronic rs3212591 ITGA2 AD NM_002203 exon21 c.84916-40G>A 0.444888 0.3175 0.497232 0.4769 0.3234 Uncertain 5_52379277_C->T 5 52379277 52379277 C T snp 1916.77 0/1 99 199 109 90 0.45 exonic rs2303122 ITGA2 AD synonymous SNV NM_002203 exon27 c.C3252T p.F1084F 0.331869 0.2946 0.342457 0.3631 0.3115 Uncertain 5_52781377_TT->- 5 52781377 52781378 TT - indel 175.73 0/1 99 31 18 13 0.42 intronic rs33951575 FST AU NM_006350 exon6 c.4895-139_4895-138delTT 0.547923 0.5794 Uncertain 5_52781597_A->T 5 52781597 52781597 A T snp 953.77 0/1 99 79 40 39 0.49 UTR3 rs722910 FST AU 0.665535 0.6577 0.555629 Uncertain 5_52856716_A->G 5 52856716 52856716 A G snp 120.77 0/1 66 7 3 4 0.57 intronic rs1532163 NDUFS4 AR,XD,AO NM_002495 exon1 c.98+126A>G 0.807308 0.8036 Uncertain 5_52899166_-->T 5 52899166 52899166 - T indel 37.73 0/1 75 19 12 7 0.37 intronic rs34241409 NDUFS4 AR,XD,AO NM_002495 exon2 c.42789-115insT 0.413538 0.4325 Uncertain 5_52942083_A->C 5 52942083 52942083 A C snp 1773.77 0/1 99 128 58 70 0.55 exonic rs31304 NDUFS4 AR,XD,AO synonymous SNV NM_002495 exon3 c.A198C p.G66G 0.94349 0.871 0.968784 0.9553 0.8517 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000117714.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 5_52942197_A->G 5 52942197 52942197 A G snp 2852.77 0/1 99 246 127 119 0.48 exonic rs31303 NDUFS4 AR,XD,AO synonymous SNV NM_002495 exon3 c.A312G p.R104R 0.80012 0.7946 0.792480 0.7734 0.7631 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000117715.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 5_52954468_-->T 5 52954468 52954468 - T indel 988.73 0/1 99 66 28 38 0.58 intronic rs140172554 NDUFS4 AR,XD,AO NM_002495 exon4 c.97962+14insT 0.148562 0.1498 0.162859 0.1543 0.1506 Uncertain 5_52978777_GATT->- 5 52978777 52978780 GATT - indel 325.73 0/1 99 16 10 6 0.38 intronic rs3085740 NDUFS4 AR,XD,AO NM_002495 exon5 c.122455-170_122455-167delGATT 0.78734 0.7917 Uncertain 5_52979097_G->A 5 52979097 52979097 G A snp 815.77 0/1 99 60 30 30 0.5 UTR3 rs567 NDUFS4 AR,XD,AO 0.378594 0.2798 0.419499 0.4485 0.2756 Uncertain 5_53183038_C->T 5 53183038 53183038 C T snp 56.74 1/1 6 2 0 2 1.0 intronic rs271247 ARL15 AU NM_019087 exon1 c.153+495C>T 0.372604 0.2649 Uncertain 5_53371315_-->T 5 53371315 53371315 - T indel 490.74 1/1 30 30 2 28 0.93 intronic rs70986658 ARL15 AU NM_019087 exon2 c.226641-37716insT 0.394369 0.3621 0 . Uncertain 5_53371333_A->G 5 53371333 53371333 A G snp 526.77 1/1 42 24 0 24 1.0 intronic rs156384 ARL15 AU NM_019087 exon2 c.226641-37698A>G 0.646765 0.4891 0 . Uncertain 5_53450542_T->C 5 53450542 53450542 T C snp 870.77 1/1 63 33 0 33 1.0 intronic rs157072 ARL15 AU NM_019087 exon3 c.268079+73T>C 0.530551 0.6865 Uncertain 5_53606295_T->C 5 53606295 53606295 T C snp 3468.77 1/1 99 139 0 139 1.0 exonic rs35941 ARL15 AU synonymous SNV NM_019087 exon1 c.A15G p.R5R 0.826478 0.7192 0.872087 0.8298 0.7206 Uncertain 5_53752010_G->T 5 53752010 53752010 G T snp 2627.77 0/1 99 194 91 103 0.53 exonic HSPB3 AD nonsynonymous SNV NM_006308 exon1 c.G391T p.A131S 1 T 1.000 D 0.366 D 1.0 D 0.999 D Pathogenic 5_53814052_T->C 5 53814052 53814052 T C snp 1948.77 1/1 99 64 0 64 1.0 exonic rs2548615 SNX18 AU synonymous SNV NM_001102575 exon1 c.T270C p.P90P 0.989018 1 0.985059 0.9824 0.9948 Uncertain 5_53814394_T->C 5 53814394 53814394 T C snp 2948.77 1/1 99 89 0 89 1.0 exonic rs2548614 SNX18 AU synonymous SNV NM_001102575 exon1 c.T612C p.G204G 0.989217 1 0.981058 0.9869 0.9980 Uncertain 5_53815240_G->C 5 53815240 53815240 G C snp 7999.77 1/1 99 250 0 250 1.0 exonic rs61739378 SNX18 AU synonymous SNV NM_001102575 exon1 c.G1458C p.S486S 0.323083 0.4831 0.243887 0.2929 0.4641 Uncertain 5_54153803_C->T 5 54153803 54153803 C T snp 1664.77 0/1 99 134 66 68 0.51 intergenic rs10040872 LOC102467080 AU 0.684704 0.6161 Uncertain 5_54154209_G->A 5 54154209 54154209 G A snp 1313.77 0/1 99 175 114 61 0.35 intergenic rs3916738 LOC102467080 AU 0.446685 0.6171 Uncertain 5_54154328_C->T 5 54154328 54154328 C T snp 291.77 0/1 99 49 36 13 0.27 intergenic rs4242050 LOC102467080 AU 0.684704 0.6161 Uncertain 5_54252345_T->C 5 54252345 54252345 T C snp 5085.77 1/1 99 176 0 176 1.0 intergenic rs6877572 LOC102467080 AU 0.5526 0.7786 Uncertain 5_54252463_C->G 5 54252463 54252463 C G snp 536.77 1/1 42 16 0 16 1.0 intergenic rs6893219 LOC102467080 AU 0.579673 0.8125 Uncertain 5_54253555_A->G 5 54253555 54253555 A G snp 2388.77 1/1 99 90 0 90 1.0 intergenic rs3815922 LOC102467080 AU 0.580471 0.8125 0.5530 0.7803 Uncertain 5_54253581_A->G 5 54253581 54253581 A G snp 2652.77 1/1 99 95 0 95 1.0 intergenic rs3815923 LOC102467080 AU 0.580272 0.8115 0.5538 0.7803 0 D -0.943 T Uncertain 5_54253754_T->C 5 54253754 54253754 T C snp 551.77 1/1 42 17 0 17 1.0 intergenic rs6883914 LOC102467080 AU 0.961462 1 Uncertain 5_54253765_C->T 5 54253765 54253765 C T snp 448.77 1/1 36 14 0 14 1.0 intergenic rs3815925 LOC102467080 AU 0.580471 0.8125 Uncertain 5_54275119_A->G 5 54275119 54275119 A G snp 1141.77 0/1 99 100 50 50 0.5 UTR3 rs3776032 ESM1 AU 0.229832 0.2917 0.182762 0.2499 0.3022 Uncertain 5_54277655_G->A 5 54277655 54277655 G A snp 83.77 0/1 30 4 1 3 0.75 intronic rs11745146 ESM1 AU NM_007036 exon2 c.2665-169G>A 0.215256 0.2897 Uncertain 5_54327136_C->T 5 54327136 54327136 C T snp 278.77 0/1 99 30 18 12 0.4 intronic rs368111434 GZMK AU NM_002104 exon4 c.7041-55C>T 0.000399361 0.002 Uncertain 5_54327231_C->T 5 54327231 54327231 C T snp 1303.77 0/1 99 128 70 58 0.45 exonic rs192602074 GZMK AU nonsynonymous SNV NM_002104 exon4 c.C403T p.L135F 0.00139776 0.0069 0.0003 0.0039 0.01 T 0.792 N 0.433 D 0.951 T 0.941 D Pathogenic 5_54403957_T->C 5 54403957 54403957 T C snp 2421.77 1/1 99 84 0 84 1.0 exonic rs3104233 GZMA AU nonsynonymous SNV NM_006144 exon4 c.T362C p.M121T 0.98123 1 0.969014 0.9835 0.9998 0.37 T 0.0 P -0.994 T 0.0 T 0.0 T Pathogenic 5_54404015_C->T 5 54404015 54404015 C T snp 4318.77 1/1 99 170 0 170 1.0 exonic rs1875506 GZMA AU synonymous SNV NM_006144 exon4 c.C420T p.D140D 0.98123 1 0.968937 0.9836 0.9999 Uncertain 5_54404057_C->G 5 54404057 54404057 C G snp 2045.77 0/1 99 184 95 89 0.48 exonic rs1051846 GZMA AU synonymous SNV NM_006144 exon4 c.C462G p.G154G 0.193291 0.2688 0.168538 0.1502 0.2655 Uncertain 5_54404084_C->T 5 54404084 54404084 C T snp 2004.77 0/1 99 178 94 84 0.47 exonic rs754612547 GZMA AU synonymous SNV NM_006144 exon4 c.C489T p.S163S 8.252e-05 0.0002 Uncertain 5_54406118_A->G 5 54406118 54406118 A G snp 56.74 1/1 6 2 0 2 1.0 downstream rs3104231 GZMA AU 0.98143 1 Uncertain 5_54410099_G->A 5 54410099 54410099 G A snp 1333.77 0/1 99 119 60 59 0.5 exonic rs444527 CDC20B AU nonsynonymous SNV NM_001145734 exon11 c.C1381T p.R461W 0.169529 0.1865 0.147009 0.2011 0.1912 0.01 T 0.000 P -1.091 T 0.995 D 0.84 D Pathogenic 5_54410120_A->C 5 54410120 54410120 A C snp 2912.77 1/1 99 104 0 104 1.0 exonic rs3104230 CDC20B AU nonsynonymous SNV NM_001145734 exon11 c.T1360G p.S454A 0.980831 1 0.967323 0.9835 0.9999 1 T 1.000 P -0.945 T 0.0 T 0.0 T Pathogenic 5_54416437_-->TG 5 54416437 54416437 - TG indel 860.73 0/1 99 50 25 25 0.5 intronic rs550552899 CDC20B AU NM_001170402 exon3 c.6333+59insTG 0.00139776 0.0069 Uncertain 5_54420799_A->C 5 54420799 54420799 A C snp 1992.77 0/1 99 138 56 82 0.59 exonic rs382402 CDC20B AU synonymous SNV NM_001145734 exon9 c.T1047G p.V349V 0.171326 0.1915 0.148316 0.2022 0.1932 Uncertain 5_54423032_C->G 5 54423032 54423032 C G snp 1740.77 0/1 99 155 79 76 0.49 intronic rs10043273 CDC20B AU NM_001170402 exon5 c.13039-52C>G 0.142971 0.2728 0.120894 Uncertain 5_54423075_C->T 5 54423075 54423075 C T snp 2920.77 0/1 99 249 123 126 0.51 intronic rs72766134 CDC20B AU NM_001170402 exon5 c.13039-9C>T 0.169728 0.1865 0.147009 0.2022 0.1913 Uncertain 5_54433604_A->G 5 54433604 54433604 A G snp 295.77 0/1 99 17 7 10 0.59 intronic rs336080 CDC20B AU NM_001170402 exon8 c.26096-2537A>G 0.170327 0.1865 Uncertain 5_54439466_G->A 5 54439466 54439466 G A snp 1775.77 0/1 99 145 63 82 0.57 exonic rs1021580 CDC20B AU nonsynonymous SNV NM_001145734 exon4 c.C361T p.R121C 0.744409 0.7262 0.750269 0.8118 0.7363 0.22 T 0.0 P -1.007 T 0.0 T 0.001 T Pathogenic 5_54439513_A->C 5 54439513 54439513 A C snp 1201.77 0/1 99 88 39 49 0.56 intronic rs191396 CDC20B AU NM_001170402 exon9 c.29426+42A>C 0.154153 0.1865 0.121538 0.1752 0.1891 Uncertain 5_54456734_C->G 5 54456734 54456734 C G snp 534.77 0/1 99 32 12 20 0.63 intronic rs2270910 CDC20B AU NM_001170402 exon11 c.58370-11681C>G 0.135583 0.2649 Uncertain 5_54459961_A->G 5 54459961 54459961 A G snp 1981.77 0/1 99 200 105 95 0.47 exonic rs381852 GPX8 AU nonsynonymous SNV NM_001008397 exon3 c.A545G p.K182R 0.833067 0.8274 0.845994 0.8095 0.8225 0.43 T 0.000 P -1.032 T 0.0 T 0.0 T Pathogenic 5_54466544_A->G 5 54466544 54466544 A G snp 744.77 0/1 99 80 47 33 0.41 ncRNA_exonic rs10061133 MIR449B AU 0.122204 0.2649 0.085146 0.1111 0.2590 Uncertain 5_54516058_A->T 5 54516058 54516058 A T snp 303.77 0/1 99 16 6 10 0.63 UTR3 rs463351 MCIDAS AU 0.15655 0.2827 Uncertain 5_54516752_C->G 5 54516752 54516752 C G snp 262.77 0/1 99 19 10 9 0.47 intronic rs3111181 MCIDAS AU NM_001190787 exon2 c.650-91C>G 0.842053 0.8403 Uncertain 5_54518687_T->C 5 54518687 54518687 T C snp 547.77 0/1 99 48 24 24 0.5 intronic rs334877 MCIDAS AU NM_001190787 exon4 c.2585-91T>C 0.16893 0.2827 Uncertain 5_54528393_G->C 5 54528393 54528393 G C snp 619.77 0/1 99 38 16 22 0.58 intronic rs334892 CCNO AR NM_021147 exon2 c.1172+19G>C 0.177716 0.1687 0.159609 0.1772 0.1766 Uncertain 5_54557146_C->T 5 54557146 54557146 C T snp 179.77 0/1 99 18 11 7 0.39 intronic rs231365 DHX29 AU NM_019030 exon3 c.4880-49C>T 0.171526 0.1597 0.165410 0.1921 0.1660 Uncertain 5_54557438_T->C 5 54557438 54557438 T C snp 796.77 1/1 60 22 0 22 1.0 intronic rs400437 DHX29 AU NM_019030 exon3 c.5012+111T>C 0.998203 0.9921 Uncertain 5_54568030_A->G 5 54568030 54568030 A G snp 258.77 0/1 99 35 20 15 0.43 intronic rs576763386 DHX29 AU NM_019030 exon10 c.15688+27A>G 0.000399361 0.002 4.665e-05 0.0006 Uncertain 5_54569062_C->T 5 54569062 54569062 C T snp 581.77 0/1 99 37 15 22 0.59 intronic rs13355909 DHX29 AU NM_019030 exon11 c.16805-58C>T 0.173323 0.1558 0.175865 Uncertain 5_54572163_T->C 5 54572163 54572163 T C snp 318.77 0/1 99 55 39 16 0.29 exonic rs3761764 DHX29 AU synonymous SNV NM_019030 exon14 c.A2358G p.K786K 0.184505 0.2877 0.142604 0.1185 0.2678 Uncertain 5_54594285_G->A 5 54594285 54594285 G A snp 254.77 0/1 94 12 3 9 0.75 intronic rs10940461 DHX29 AU NM_019030 exon26 c.42103-133G>A 0.142971 0.2877 Uncertain 5_54603822_T->C 5 54603822 54603822 T C snp 5223.77 1/1 99 191 0 191 1.0 UTR5 rs2290595 SKIV2L2 AU 0.46266 0.5 0.384592 0.3684 0.4961 Uncertain 5_54635810_G->T 5 54635810 54635810 G T snp 151.77 0/1 99 13 6 7 0.54 intronic rs13436420 SKIV2L2 AU NM_015360 exon6 c.31996-27G>T 0.178514 0.2867 0.133631 0.1253 0.2707 Uncertain 5_54635826_-->C 5 54635826 54635826 - C indel 392.73 0/1 99 23 11 12 0.52 intronic rs111348674 SKIV2L2 AU NM_015360 exon6 c.31996-11insC 0.178514 0.2867 0.137518 0.1234 0.2676 Uncertain 5_54637759_AG->- 5 54637759 54637760 AG - indel 186.73 0/1 99 10 4 6 0.6 intronic rs10592648 SKIV2L2 AU NM_015360 exon7 c.33758+160_33758+161delAG 0.178514 0.2867 Uncertain 5_54639385_-->A 5 54639385 54639385 - A indel 276.73 0/1 99 22 7 15 0.68 intronic rs138200811 SKIV2L2 AU NM_015360 exon8 c.35442+102insA 0.16853 0.2867 Uncertain 5_54640496_A->G 5 54640496 54640496 A G snp 793.77 0/1 99 44 13 31 0.7 intronic rs2305678 SKIV2L2 AU NM_015360 exon9 c.36607+48A>G 0.178514 0.2867 0.138606 0.1377 0.3421 Uncertain 5_54645411_G->A 5 54645411 54645411 G A snp 612.77 0/1 99 57 27 30 0.53 exonic rs2061242 SKIV2L2 AU synonymous SNV NM_015360 exon12 c.G1251A p.K417K 0.182109 0.2867 0.141319 0.1174 0.2661 Uncertain 5_54646894_A->G 5 54646894 54646894 A G snp 216.77 0/1 99 21 11 10 0.48 intronic rs9885400 SKIV2L2 AU NM_015360 exon13 c.43016+37A>G 0.183706 0.2867 0.140189 0.1298 0.2762 Uncertain 5_54648918_T->C 5 54648918 54648918 T C snp 486.77 0/1 99 29 12 17 0.59 intronic rs9292089 SKIV2L2 AU NM_015360 exon14 c.45154-77T>C 0.170327 0.2867 Uncertain 5_54674296_A->G 5 54674296 54674296 A G snp 548.77 0/1 99 61 36 25 0.41 exonic rs10471413 SKIV2L2 AU synonymous SNV NM_015360 exon17 c.A1965G p.Q655Q 0.182508 0.2857 0.143429 0.1179 0.2668 Uncertain 5_54683977_T->C 5 54683977 54683977 T C snp 758.77 0/1 99 64 35 29 0.45 intronic rs16884123 SKIV2L2 AU NM_015360 exon19 c.80089+47T>C 0.182508 0.2857 0.143417 0.1204 0.2724 Uncertain 5_54693374_G->A 5 54693374 54693374 G A snp 789.77 0/1 99 66 35 31 0.47 intronic rs230802 SKIV2L2 AU NM_015360 exon20 c.89513+20G>A 0.817492 0.7143 0.856044 0.8827 0.7365 Uncertain 5_54693402_G->A 5 54693402 54693402 G A snp 282.77 0/1 99 31 20 11 0.35 intronic rs230801 SKIV2L2 AU NM_015360 exon20 c.89513+48G>A 0.817492 0.7143 0.856141 0.8767 0.7001 Uncertain 5_54706325_-->TTTAAA 5 54706325 54706325 - TTTAAA indel 6419.73 0/1 99 146 68 78 0.53 intronic rs139320115 SKIV2L2 AU NM_015360 exon23 c.102510-26insTTTAAA 0.817692 0.7143 0.846603 0.8815 0.7315 Uncertain 5_54709943_G->A 5 54709943 54709943 G A snp 610.77 0/1 99 58 29 29 0.5 intronic rs230766 SKIV2L2 AU NM_015360 exon24 c.106168-66G>A 0.830471 0.7143 0.871604 Uncertain 5_54718618_G->C 5 54718618 54718618 G C snp 264.77 0/1 99 22 12 10 0.45 intronic rs230753 SKIV2L2 AU NM_015360 exon26 c.114864-87G>C 0.817292 0.7143 Uncertain 5_54721619_-->T 5 54721619 54721619 - T indel 117.73 0/1 99 21 13 8 0.38 intronic rs3217330 PPAP2A AU NM_003711 exon2 c.657-71insT 0.780751 0.7034 Uncertain 5_54721642_A->C 5 54721642 54721642 A C snp 408.77 0/1 99 39 20 19 0.49 intronic rs230750 PPAP2A AU NM_003711 exon2 c.657-48A>C 0.817292 0.7143 0.858538 0.8825 0.7366 Uncertain 5_54737538_T->C 5 54737538 54737538 T C snp 689.77 0/1 99 65 35 30 0.46 intronic rs2278258 PPAP2A AU NM_003711 exon3 c.16645-140T>C 0.817692 0.7143 Uncertain 5_54737791_G->C 5 54737791 54737791 G C snp 538.77 0/1 99 66 44 22 0.33 intronic rs2278257 PPAP2A AU NM_003711 exon3 c.16703+55G>C 0.817492 0.7143 0.859834 Uncertain 5_54771380_A->G 5 54771380 54771380 A G snp 83.77 0/1 69 5 2 3 0.6 intronic rs6870449 PPAP2A AU NM_003711 exon5 c.50245+102A>G 0.80631 0.6786 Uncertain 5_54771433_G->A 5 54771433 54771433 G A snp 40.77 0/1 33 3 1 2 0.67 intronic rs6888824 PPAP2A AU NM_003711 exon5 c.50245+155G>A 0.850839 0.6786 Uncertain 5_54804621_C->T 5 54804621 54804621 C T snp 940.77 0/1 99 94 50 44 0.47 intronic rs7707766 PPAP2A AU NM_176895 exon5 c.65909+17679C>T 0.716853 0.623 Uncertain 5_54830295_T->G 5 54830295 54830295 T G snp 499.77 0/1 99 28 8 20 0.71 ncRNA_exonic rs2292280 RNF138P1 AU 0.817492 0.6786 Uncertain 5_54830380_A->G 5 54830380 54830380 A G snp 1182.77 0/1 99 91 38 53 0.58 intronic rs11745331 PPAP2A AU NM_003711 exon6 c.109366-19A>G 0.85603 0.6786 0.901714 0.8988 0.7404 Uncertain 5_54922535_-->TTTTCTGA 5 54922535 54922535 - TTTTCTGA indel 3045.73 0/1 99 61 27 34 0.56 intronic rs144369208 SLC38A9 AU NM_173514 exon1 c.166+48insTTTTCTGA 0.061901 0.0367 0.051303 0.0327 0.0347 Uncertain 5_54923641_-->AAC 5 54923641 54923641 - AAC indel 1023.73 0/1 99 37 14 23 0.62 intronic rs149037235 SLC38A9 AU NM_173514 exon2 c.1397-77insAAC Uncertain 5_54923668_G->A 5 54923668 54923668 G A snp 1107.77 0/1 99 75 32 43 0.57 intronic rs73119720 SLC38A9 AU NM_173514 exon2 c.1397-50G>A 0.061901 0.0367 0.053599 0.0338 0.0354 Uncertain 5_54923705_T->C 5 54923705 54923705 T C snp 1463.77 0/1 99 132 63 69 0.52 intronic rs73119722 SLC38A9 AU NM_173514 exon2 c.1397-13T>C 0.0529153 0.0367 0.044902 0.0320 0.0356 Uncertain 5_54923882_C->T 5 54923882 54923882 C T snp 112.77 0/1 99 19 14 5 0.26 intronic rs78968762 SLC38A9 AU NM_173514 exon2 c.1487+74C>T 0.061901 0.0367 Uncertain 5_54923903_G->A 5 54923903 54923903 G A snp 56.77 0/1 85 13 10 3 0.23 intronic rs80036022 SLC38A9 AU NM_173514 exon2 c.1487+95G>A Uncertain 5_54941617_A->G 5 54941617 54941617 A G snp 343.77 0/1 99 26 11 15 0.58 exonic rs35361432 SLC38A9 AU synonymous SNV NM_001258286 exon10 c.T978C p.N326N 0.052516 0.0367 0.044986 0.0340 0.0387 Uncertain 5_54941810_T->C 5 54941810 54941810 T C snp 190.77 0/1 99 18 9 9 0.5 intronic rs6450329 SLC38A9 AU NM_173514 exon5 c.19402+87T>C 0.557508 0.4623 Uncertain 5_54941811_G->A 5 54941811 54941811 G A snp 214.77 0/1 99 18 9 9 0.5 intronic rs6450330 SLC38A9 AU NM_173514 exon5 c.19402+88G>A 0.557708 0.4623 Uncertain 5_54944976_G->C 5 54944976 54944976 G C snp 65.77 0/1 94 9 5 4 0.44 intronic rs11738633 SLC38A9 AU NM_173514 exon6 c.22713-58G>C 0.557308 0.4613 Uncertain 5_54960609_A->G 5 54960609 54960609 A G snp 1286.77 0/1 99 158 95 63 0.4 exonic rs4865614 SLC38A9 AU synonymous SNV NM_001258286 exon6 c.T420C p.L140L 0.558506 0.4613 0.594572 0.6353 0.4570 Uncertain 5_54960673_C->G 5 54960673 54960673 C G snp 990.77 0/1 99 117 70 47 0.4 exonic rs4865615 SLC38A9 AU nonsynonymous SNV NM_001258286 exon6 c.G356C p.S119T 0.558506 0.4613 0.593880 0.6343 0.4550 0.86 T 0.0 P -0.988 T 0.0 T 0.001 T Pathogenic 5_54960687_C->T 5 54960687 54960687 C T snp 869.77 0/1 99 101 60 41 0.41 exonic rs4865616 SLC38A9 AU synonymous SNV NM_001258286 exon6 c.G342A p.S114S 0.558506 0.4613 0.594034 0.6358 0.4579 Uncertain 5_54964886_T->A 5 54964886 54964886 T A snp 361.77 0/1 99 21 10 11 0.52 intronic rs73113678 SLC38A9 AU NM_173514 exon10 c.42734-169T>A 0.0377396 0.0377 Uncertain 5_54964974_A->G 5 54964974 54964974 A G snp 1976.77 0/1 99 121 49 72 0.6 intronic rs7737254 SLC38A9 AU NM_173514 exon10 c.42734-81A>G 0.560503 0.4613 Uncertain 5_54965854_G->A 5 54965854 54965854 G A snp 180.9 1/1 15 5 0 5 1.0 intronic rs2408031 SLC38A9 AU NM_173514 exon12 c.43386+147G>A 0.558506 0.4613 Uncertain 5_54965879_G->A 5 54965879 54965879 G A snp 80.28 1/1 9 3 0 3 1.0 intronic rs2897835 SLC38A9 AU NM_173514 exon12 c.43386+172G>A 0.558307 0.4613 Uncertain 5_54986775_T->C 5 54986775 54986775 T C snp 44.77 0/1 33 3 1 2 0.67 intronic rs6897117 SLC38A9 AU NM_001258287 exon13 c.64695-241T>C 0.738618 0.7192 Uncertain 5_54986963_A->G 5 54986963 54986963 A G snp 2126.77 0/1 99 192 93 99 0.52 intronic rs3846505 SLC38A9 AU NM_001258287 exon13 c.64695-53A>G 0.560903 0.4613 Uncertain 5_54990005_C->T 5 54990005 54990005 C T snp 96.77 0/1 99 15 11 4 0.27 intronic rs7728664 SLC38A9 AU NM_001258287 exon14 c.66560+1124C>T 0.561102 0.4613 0.4725 0.4714 Uncertain 5_54990036_A->- 5 54990036 54990036 A - indel 103.73 0/1 99 46 33 13 0.28 intronic rs773721589 SLC38A9 AU NM_001258287 exon14 c.66560+1155delA 0.1 0 Uncertain 5_54993829_A->G 5 54993829 54993829 A G snp 1407.77 0/1 99 89 33 56 0.63 intronic rs3761766 SLC38A9 AU NM_173514 exon14 c.71499+9A>G 0.561102 0.4613 0.591035 0.6390 0.4617 Uncertain 5_55058992_C->A 5 55058992 55058992 C A snp 482.77 0/1 99 49 24 25 0.51 intronic rs3761776 DDX4 AU NM_001166533 exon5 c.24211-10C>A 0.412141 0.4802 0.365503 0.3146 0.4638 Uncertain 5_55063821_G->A 5 55063821 55063821 G A snp 2705.77 0/1 99 245 122 123 0.5 intronic rs114582735 DDX4 AU NM_001166534 exon2 c.1011+53G>A 0.0329473 0.0347 0.024091 0.0253 0.0298 Uncertain 5_55082474_C->T 5 55082474 55082474 C T snp 2380.77 0/1 99 206 107 99 0.48 exonic rs957459 DDX4 AU synonymous SNV NM_001166534 exon7 c.C546T p.C182C 0.465056 0.497 0.407812 0.3720 0.4805 Uncertain 5_55110668_T->C 5 55110668 55110668 T C snp 1424.77 0/1 99 96 39 57 0.59 intronic rs142603651 DDX4 AU NM_001166533 exon19 c.75937-60T>C 0.00279553 0.0139 Uncertain 5_55147369_G->A 5 55147369 55147369 G A snp 1514.77 0/1 99 114 52 62 0.54 UTR5 rs9687963 IL31RA AU 0.0241613 0.0347 0.012383 0.0162 0.0295 Uncertain 5_55149407_T->C 5 55149407 55149407 T C snp 3185.74 1/1 99 121 1 120 0.99 intronic rs10940487 IL31RA AU NM_001242638 exon3 c.6+12T>C 0.684904 0.4544 0.7678 0.4919 Uncertain 5_55155402_C->T 5 55155402 55155402 C T snp 2628.77 1/1 99 103 2 101 0.98 exonic rs1009639 IL31RA AU synonymous SNV NM_139017 exon2 c.C129T p.P43P 0.628395 0.4544 0.706597 0.6877 0.4625 Uncertain 5_55168328_-->CTT 5 55168328 55168328 - CTT indel 804.73 1/1 45 22 0 22 1.0 intronic rs112487505 IL31RA AU NM_139017 exon4 c.20881+49insCTT 0.605032 0.3849 0.659339 0.5641 0.3761 Uncertain 5_55179052_A->T 5 55179052 55179052 A T snp 4197.77 1/1 99 150 0 150 1.0 intronic rs10940491 IL31RA AU NM_139017 exon5 c.31625+29A>T 0.601438 0.3859 0.662796 0.5672 0.3777 Uncertain 5_55179070_A->G 5 55179070 55179070 A G snp 1495.77 0/1 99 122 62 60 0.49 intronic rs68051026 IL31RA AU NM_139017 exon5 c.31625+47A>G 0.118411 0.0357 0.119462 0.0715 0.0297 Uncertain 5_55196023_C->T 5 55196023 55196023 C T snp 291.77 0/1 99 24 13 11 0.46 intronic rs1148039 IL31RA AU NM_139017 exon8 c.48562+63C>T 0.295128 0.3244 Uncertain 5_55206202_A->G 5 55206202 55206202 A G snp 50.74 1/1 6 2 0 2 1.0 intronic rs161705 IL31RA AU NM_139017 exon12 c.58961-157A>G 0.857228 0.8442 Uncertain 5_55206444_G->A 5 55206444 55206444 G A snp 1707.77 0/1 99 132 60 72 0.55 exonic rs161704 IL31RA AU nonsynonymous SNV NM_139017 exon12 c.G1586A p.S529N 0.309904 0.3254 0.308627 0.3014 0.3343 0.34 T 1.000 P -0.993 T 0.17 T 0.068 T Pathogenic 5_55212379_A->G 5 55212379 55212379 A G snp 101.77 0/1 99 8 4 4 0.5 intronic rs161700 IL31RA AU NM_139017 exon15 c.65073-92A>G 0.769768 0.8056 Uncertain 5_55213023_C->T 5 55213023 55213023 C T snp 229.77 0/1 99 12 5 7 0.58 UTR3 rs161699 IL31RA AU 0.696486 0.8056 Uncertain 5_55218412_A->G 5 55218412 55218412 A G snp 600.77 0/1 99 50 29 21 0.42 intergenic rs7700525 IL31RA AU 0.122404 0.0377 Uncertain 5_55246001_A->G 5 55246001 55246001 A G snp 951.77 1/1 69 38 0 38 1.0 intronic rs4865999 IL6ST AU NM_002184 exon4 c.10382-1290A>G 0.90635 0.6935 0.995982 0.9569 0.7274 Uncertain 5_55398269_G->C 5 55398269 55398269 G C snp 2448.77 1/1 99 86 0 86 1.0 intronic rs318818 ANKRD55 AU NM_024669 exon2 c.2311-51G>C 1 1 Uncertain 5_55422681_C->T 5 55422681 55422681 C T snp 35.77 0/1 64 6 4 2 0.33 intronic rs321768 ANKRD55 AU NM_024669 exon5 c.26739-67C>T 0.668331 0.4881 Uncertain 5_55479223_G->C 5 55479223 55479223 G C snp 189.77 0/1 99 24 14 10 0.42 intronic rs6885745 ANKRD55 AU NM_024669 exon10 c.83329-115G>C 0.385982 0.4554 Uncertain 5_55528572_-->AC 5 55528572 55528572 - AC indel 718.73 ./1 99 15 0 15 1.0 intronic rs142447793 ANKRD55 AU NM_024669 exon11 c.132673-110insAC 0.163538 0.2133 Uncertain 5_55528572_-->ACAC 5 55528572 55528572 - ACAC indel 718.73 ./1 99 15 0 15 1.0 intronic rs142447793 ANKRD55 AU NM_024669 exon11 c.132673-110insACAC 0.360423 0.5853 Uncertain 5_55528815_T->C 5 55528815 55528815 T C snp 3966.77 1/1 99 140 0 140 1.0 intronic rs149489 ANKRD55 AU NM_024669 exon11 c.132764+42T>C 0.628195 0.8552 Uncertain 5_55759715_T->C 5 55759715 55759715 T C snp 272.8 1/1 21 9 0 9 1.0 ncRNA_intronic rs157851 LOC102467147 AU 0.857428 0.8075 Uncertain 5_55807370_C->T 5 55807370 55807370 C T snp 906.77 0/1 99 79 44 35 0.44 UTR3 rs464605 LOC101928448 AU 0.60643 0.4881 Uncertain 5_55809465_A->G 5 55809465 55809465 A G snp 114.77 0/1 99 8 4 4 0.5 intronic rs173964 LOC101928448 AU NM_001287053 exon2 c.2040-123A>G 0.606629 0.4891 Uncertain 5_55828995_T->G 5 55828995 55828995 T G snp 96.77 0/1 99 21 13 8 0.38 intronic rs778950759 LOC101928448 AU NM_001287053 exon3 c.21434+13T>G 0.0114 0.0548 Uncertain 5_55830865_C->T 5 55830865 55830865 C T snp 787.77 0/1 99 39 8 31 0.79 intronic rs39837 LOC101928448 AU NM_001287053 exon4 c.23408-91C>T 0.286941 0.373 Uncertain 5_56111751_G->C 5 56111751 56111751 G C snp 576.77 1/1 42 21 0 21 1.0 exonic rs28710284 MAP3K1 AD synonymous SNV NM_005921 exon1 c.G351C p.A117A 0.685703 0.5704 0.7955 0.5 Uncertain 5_56111927_C->T 5 56111927 56111927 C T snp 81.28 1/1 9 3 0 3 1.0 intronic rs7731700 MAP3K1 AD NM_005921 exon1 c.482+45C>T 0.492412 0.245 0.5 . Uncertain 5_56152416_C->A 5 56152416 56152416 C A snp 668.77 0/1 99 34 9 25 0.74 intronic rs832567 MAP3K1 AD NM_005921 exon2 c.41026-10C>A 0.526158 0.245 0.698932 0.6132 0.2088 Uncertain 5_56161787_G->A 5 56161787 56161787 G A snp 5427.77 1/1 99 204 0 204 1.0 exonic rs832575 MAP3K1 AD synonymous SNV NM_005921 exon6 c.G1284A p.T428T 0.804313 0.7183 0.853010 0.8479 0.7038 Uncertain 5_56177148_A->G 5 56177148 56177148 A G snp 515.77 0/1 99 39 20 19 0.49 intronic rs895380 MAP3K1 AD NM_005921 exon13 c.65699+49A>G 0.163538 0.3274 0.077249 0.1496 0.3682 Uncertain 5_56177443_G->A 5 56177443 56177443 G A snp 3245.77 0/1 99 249 128 121 0.49 exonic rs702689 MAP3K1 AD nonsynonymous SNV NM_005921 exon14 c.G2416A p.D806N 0.476438 0.2431 0.650117 0.5984 0.2066 0.36 T 1.000 P -0.975 T 0.999 D 0.915 D ID=CM1313773;DIS=Asthma, association with;TAG=DP;PUB=22468730 DP Pathogenic 5_56177743_G->A 5 56177743 56177743 G A snp 6790.77 1/1 99 215 1 214 1.0 exonic rs832582 MAP3K1 AD nonsynonymous SNV NM_005921 exon14 c.G2716A p.V906I 0.708267 0.5704 0.798470 0.7648 0.5700 0.78 T 0.0 P -1.009 T 0.0 T 0.0 T Pathogenic 5_56177849_CAA->- 5 56177849 56177851 CAA - indel 11486.7 1/1 99 250 0 250 1.0 exonic rs10552703 MAP3K1 AD nonframeshift deletion NM_005921 exon14 c.2822_2824del p.941_942del 0.7393 0.5585 Uncertain 5_56178217_A->C 5 56178217 56178217 A C snp 6875.77 1/1 99 239 2 237 0.99 exonic rs832583 MAP3K1 AD synonymous SNV NM_005921 exon14 c.A3190C p.R1064R 0.708267 0.5704 0.799466 0.7653 0.5712 Uncertain 5_56179212_C->T 5 56179212 56179212 C T snp 552.77 1/1 42 14 0 14 1.0 intronic rs832584 MAP3K1 AD NM_005921 exon15 c.67953-141C>T 0.708466 0.5704 Uncertain 5_56179341_G->A 5 56179341 56179341 G A snp 2317.77 0/1 99 199 105 94 0.47 intronic rs16886463 MAP3K1 AD NM_005921 exon15 c.67953-12G>A 0.163538 0.3274 0.076780 0.1462 0.3643 Uncertain 5_56180480_A->G 5 56180480 56180480 A G snp 2008.77 0/1 99 157 73 84 0.54 intronic rs3736430 MAP3K1 AD NM_005921 exon16 c.69090-10A>G 0.182708 0.3274 0.099531 0.1552 0.3670 Uncertain 5_56183941_C->G 5 56183941 56183941 C G snp 425.77 1/1 33 11 0 11 1.0 intronic rs832547 MAP3K1 AD NM_005921 exon19 c.72652-111C>G 0.708267 0.5704 Uncertain 5_56205357_A->G 5 56205357 56205357 A G snp 658.77 1/1 54 18 0 18 1.0 UTR5 rs185220 SETD9 AU 0.723842 0.5982 Uncertain 5_56205643_A->G 5 56205643 56205643 A G snp 2204.77 0/1 99 184 99 85 0.46 intronic rs252924 SETD9 AU NM_153706 exon1 c.98+73A>G 0.488419 0.2688 Uncertain 5_56205662_T->G 5 56205662 56205662 T G snp 1605.77 0/1 99 134 70 64 0.48 intronic rs252923 SETD9 AU NM_153706 exon1 c.98+92T>G 0.39377 0.1369 Uncertain 5_56206073_G->T 5 56206073 56206073 G T snp 957.77 0/1 99 75 35 40 0.53 intronic rs33321 SETD9 AU NM_153706 exon1 c.98+503G>T 0.34365 0.1349 Uncertain 5_56207123_T->A 5 56207123 56207123 T A snp 2011.77 0/1 99 151 72 79 0.52 exonic rs2257505 SETD9 AU nonsynonymous SNV NM_153706 exon2 c.T226A p.S76T 0.489217 0.2639 0.663617 0.6323 0.2285 1 T 0.0 P -0.976 T 0.0 T 0.0 T Pathogenic 5_56209044_TTTA->- 5 56209044 56209047 TTTA - indel 1445.73 0/1 99 81 29 52 0.64 intronic rs371150413 SETD9 AU NM_153706 exon3 c.3489+83_3489+86delTTTA 0.154752 0.3294 Uncertain 5_56210923_G->A 5 56210923 56210923 G A snp 115.77 0/1 66 7 3 4 0.57 intronic rs331499 SETD9 AU NM_153706 exon5 c.5321+130G>A 0.347644 0.1359 Uncertain 5_56212595_C->T 5 56212595 56212595 C T snp 197.77 0/1 99 39 28 11 0.28 intronic rs832536 SETD9 AU NM_153706 exon6 c.7169-46C>T 0.345447 0.1369 0.520298 0.5109 0.1016 Uncertain 5_56221328_A->G 5 56221328 56221328 A G snp 241.77 0/1 99 15 5 10 0.67 intronic rs702679 MIER3 AU NM_001297599 exon3 c.915+1459A>G 0.381589 0.1369 Uncertain 5_56224485_-->TGGC 5 56224485 56224485 - TGGC indel 339.87 1/1 15 5 0 5 1.0 intronic rs10684065 MIER3 AU NM_001297599 exon4 c.5639-108insTGGC 0.610623 0.4663 Uncertain 5_56224714_T->C 5 56224714 56224714 T C snp 1176.77 1/1 84 41 0 41 1.0 intronic rs252893 MIER3 AU NM_001297599 exon4 c.5734+26T>C 0.610623 0.4663 0.719753 0.7004 0.4924 Uncertain 5_56224783_CTCT->- 5 56224783 56224786 CTCT - indel 559.74 1/1 30 17 0 17 1.0 intronic rs150635397 MIER3 AU NM_001297599 exon4 c.5734+95_5734+98delCTCT 0.396366 0.372 Uncertain 5_56224796_T->A 5 56224796 56224796 T A snp 68.77 0/1 97 10 7 3 0.3 intronic rs11747763 MIER3 AU NM_001297599 exon4 c.5734+108T>A 0.216653 0.0972 Uncertain 5_56224808_A->T 5 56224808 56224808 A T snp 37.77 0/1 66 7 5 2 0.29 intronic rs252892 MIER3 AU NM_001297599 exon4 c.5734+120A>T Uncertain 5_56224834_T->A 5 56224834 56224834 T A snp 35.74 1/1 6 2 0 2 1.0 intronic rs252891 MIER3 AU NM_001297599 exon4 c.5734+146T>A Uncertain 5_56226410_T->C 5 56226410 56226410 T C snp 3021.77 0/1 99 250 126 124 0.5 intronic rs252890 MIER3 AU NM_001297599 exon5 c.7536-80T>C 0.360623 0.1369 Uncertain 5_56226605_G->A 5 56226605 56226605 G A snp 1038.77 0/1 99 90 46 44 0.49 intronic rs12657396 MIER3 AU NM_001297599 exon5 c.7618+33G>A 0.224641 0.3294 0.136860 0.1500 0.3630 Uncertain 5_56229288_C->T 5 56229288 56229288 C T snp 432.77 0/1 99 27 12 15 0.56 intronic rs832529 MIER3 AU NM_001297599 exon6 c.10271+63C>T 0.359425 0.1369 Uncertain 5_56246610_A->G 5 56246610 56246610 A G snp 220.77 0/1 99 17 9 8 0.47 intronic rs2662040 MIER3 AU NM_001297599 exon12 c.27525+131A>G 0.654153 0.8631 Uncertain 5_56526565_G->T 5 56526565 56526565 G T snp 896.77 1/1 66 28 0 28 1.0 intronic rs1544737 GPBP1 AU NM_001127235 exon4 c.16715-107G>T 1 1 1 1 Uncertain 5_56526783_G->A 5 56526783 56526783 G A snp 6333.77 1/1 99 243 0 243 1.0 exonic rs1130203 GPBP1 AU synonymous SNV NM_001127236 exon3 c.G195A p.G65G 0.853834 0.998 0.763109 0.7490 0.9983 Uncertain 5_56526820_T->- 5 56526820 56526820 T - indel 7496.73 1/1 99 194 0 194 1.0 intronic rs3214438 GPBP1 AU NM_001127235 exon4 c.16839+24delT 0.369609 0.7282 0.246764 0.3119 0.7013 Uncertain 5_56527224_T->C 5 56527224 56527224 T C snp 970.77 1/1 72 26 0 26 1.0 intronic rs1862172 GPBP1 AU NM_001127235 exon5 c.17191+76T>C 0.961062 1 Uncertain 5_56527247_T->C 5 56527247 56527247 T C snp 512.77 1/1 39 13 0 13 1.0 intronic rs1862173 GPBP1 AU NM_001127235 exon5 c.17191+99T>C 0.725639 0.9851 Uncertain 5_56542025_A->- 5 56542025 56542025 A - indel 105.8 1/1 18 6 0 6 1.0 intronic rs11349725 GPBP1 AU NM_001127235 exon7 c.32169-101delA 0.522764 0.6895 Uncertain 5_56546749_-->T 5 56546749 56546749 - T indel 131.75 1/1 24 8 0 8 1.0 intronic rs34533194 GPBP1 AU NM_001127235 exon10 c.36823-31insT 0.421925 0.5228 0.4052 0.4893 Uncertain 5_56547059_G->A 5 56547059 56547059 G A snp 1098.77 1/1 81 34 0 34 1.0 intronic rs6893468 GPBP1 AU NM_001127235 exon10 c.37011+91G>A 0.761581 0.9851 Uncertain 5_57750350_C->G 5 57750350 57750350 C G snp 1055.77 1/1 78 30 0 30 1.0 UTR3 rs15009 PLK2 AU 0.446086 0.5982 Uncertain 5_57751836_G->A 5 57751836 57751836 G A snp 2180.77 0/1 99 169 83 86 0.51 intronic rs73094318 PLK2 AU NM_001252226 exon5 c.1443-16G>A 0.0485224 0.0843 0.020683 0.0211 0.1040 Uncertain 5_57752965_G->A 5 57752965 57752965 G A snp 1204.77 0/1 99 124 73 51 0.41 intronic rs2291634 PLK2 AU NM_001252226 exon8 c.2598-42G>A 0.0485224 0.0843 0.020529 0.0208 0.1049 Uncertain 5_57753035_G->A 5 57753035 57753035 G A snp 2210.77 0/1 99 162 77 85 0.52 exonic PLK2 AU synonymous SNV NM_006622 exon7 c.C981T p.D327D Uncertain 5_57753456_C->T 5 57753456 57753456 C T snp 814.77 1/1 60 27 0 27 1.0 intronic rs702723 PLK2 AU NM_001252226 exon9 c.3001+46C>T 0.739816 0.8948 0.634861 0.6658 0.9029 Uncertain 5_57754004_C->T 5 57754004 57754004 C T snp 2604.77 0/1 99 231 120 111 0.48 splicing rs697135 PLK2 AU NM_001252226 exon10 c.3589+6C>T 0.422324 0.2222 0.507622 0.4229 0.2297 Pathogenic 5_57754005_G->A 5 57754005 57754005 G A snp 2611.77 0/1 99 226 109 117 0.52 intronic rs1848510 PLK2 AU NM_001252226 exon10 c.3589+7G>A 0.403155 0.5139 0.339209 0.4005 0.5144 Uncertain 5_57754132_G->C 5 57754132 57754132 G C snp 2839.77 1/1 99 103 0 103 1.0 intronic rs697134 PLK2 AU NM_001252226 exon11 c.3816-93G>C 0.8443 0.9234 Uncertain 5_57754808_G->A 5 57754808 57754808 G A snp 7427.77 1/1 99 250 1 249 1.0 splicing rs697133 PLK2 AU NM_001252226 exon13 c.4402-3G>A 0.740216 0.8948 0.637321 0.6662 0.9039 Pathogenic 5_57755392_C->A 5 57755392 57755392 C A snp 32.77 0/1 61 5 3 2 0.4 intronic rs73094329 PLK2 AU NM_001252226 exon14 c.5107-124C>A 0.0493211 0.0883 Uncertain 5_57755703_C->T 5 57755703 57755703 C T snp 1824.77 0/1 99 160 84 76 0.47 exonic rs3211270 PLK2 AU synonymous SNV NM_001252226 exon1 c.G84A p.A28A 0.390974 0.5089 0.314270 0.3825 0.5122 Uncertain 5_58271713_-->A 5 58271713 58271713 - A indel 348.73 1/1 47 23 0 23 1.0 intronic rs112200987 PDE4D AU,AD NM_001197223 exon2 c.1176+47insA 0.487021 0.5337 0.581235 0.4933 0.5540 Uncertain 5_58284208_C->T 5 58284208 58284208 C T snp 275.8 1/1 21 11 0 11 1.0 intronic rs3805557 PDE4D AU,AD NM_001197223 exon5 c.13829-111C>T 0.808307 0.8185 Uncertain 5_58284283_G->A 5 58284283 58284283 G A snp 1142.77 1/1 81 44 0 44 1.0 intronic rs3805556 PDE4D AU,AD NM_001197223 exon5 c.13829-36G>A 0.867013 0.875 0.870615 0.8423 0.9128 Uncertain 5_58286625_C->T 5 58286625 58286625 C T snp 2946.77 1/1 99 133 0 133 1.0 splicing rs1553114 PDE4D AU,AD NM_001197223 exon7 c.16140-5C>T 0.809305 0.8185 0.816535 0.8384 0.8623 Pathogenic 5_58286836_A->G 5 58286836 58286836 A G snp 222.84 1/1 18 6 0 6 1.0 intronic rs1973451 PDE4D AU,AD NM_001197223 exon7 c.16239+107A>G 0.841054 0.8185 Uncertain 5_58286867_G->T 5 58286867 58286867 G T snp 96.28 1/1 9 3 0 3 1.0 intronic rs1973450 PDE4D AU,AD NM_001197223 exon7 c.16239+138G>T 0.807508 0.8185 Uncertain 5_58287554_AAC->- 5 58287554 58287556 AAC - indel 659.73 1/1 48 16 0 16 1.0 intronic rs3840337 PDE4D AU,AD NM_001197223 exon8 c.17168-104_17168-102delAAC 0.651358 0.6359 Uncertain 5_58289046_G->T 5 58289046 58289046 G T snp 803.77 1/1 60 26 0 26 1.0 intronic rs7737685 PDE4D AU,AD NM_001197223 exon9 c.18708-152G>T 0.840655 0.8175 Uncertain 5_58289334_A->G 5 58289334 58289334 A G snp 403.77 1/1 30 14 0 14 1.0 intronic rs7724713 PDE4D AU,AD NM_001197223 exon9 c.18802+42A>G 0.809904 0.8175 0.818430 0.8375 0.8537 Uncertain 5_58295390_-->TATG 5 58295390 58295390 - TATG indel 1008.9 1/1 14 19 1 18 0.95 intronic rs139662781 PDE4D AU,AD NM_001197223 exon10 c.24825+75insTATG 0.196286 0.4692 0.213131 0.1197 0.6317 Uncertain 5_58297703_T->G 5 58297703 58297703 T G snp 3069.77 1/1 99 108 1 107 0.99 intronic rs16888990 PDE4D AU,AD NM_001197223 exon10 c.25269+1944T>G 0.179513 0.4702 Uncertain 5_58297881_A->G 5 58297881 58297881 A G snp 5425.77 1/1 99 204 1 203 1.0 intronic rs2968014 PDE4D AU,AD NM_001197223 exon10 c.25269+2122A>G 0.876832 0.8657 0.8898 Uncertain 5_58386812_G->A 5 58386812 58386812 G A snp 139.03 1/1 12 4 0 4 1.0 intronic rs10075104 PDE4D AU,AD NM_001197221 exon11 c.64849+51473G>A 0.682508 0.7986 Uncertain 5_58452915_T->C 5 58452915 58452915 T C snp 174.9 1/1 15 5 0 5 1.0 intronic rs6875867 PDE4D AU,AD NM_001197220 exon11 c.205930-23505T>C 0.691294 0.5605 Uncertain 5_58475985_G->C 5 58475985 58475985 G C snp 174.9 1/1 15 5 0 5 1.0 intronic rs9292194 PDE4D AU,AD NM_001197220 exon11 c.205930-435G>C Uncertain 5_58476117_T->C 5 58476117 58476117 T C snp 1100.77 1/1 78 41 0 41 1.0 intronic rs9292195 PDE4D AU,AD NM_001197220 exon11 c.205930-303T>C 0.710863 0.5188 Uncertain 5_58489218_G->A 5 58489218 58489218 G A snp 707.77 1/1 51 24 0 24 1.0 intronic rs1445950 PDE4D AU,AD NM_001197220 exon13 c.218835-107G>A 0.780351 0.5208 Uncertain 5_58489384_G->A 5 58489384 58489384 G A snp 2978.77 1/1 99 119 0 119 1.0 intronic rs27175 PDE4D AU,AD NM_001197220 exon13 c.218872+22G>A 0.976038 0.8869 0.999750 0.9916 0.8887 Uncertain 5_58882331_C->A 5 58882331 58882331 C A snp 77.77 0/1 99 8 5 3 0.38 intronic rs201904888 PDE4D AU,AD NM_006203 exon15 c.611834+7C>A Uncertain 5_59725671_T->G 5 59725671 59725671 T G snp 272.77 0/1 99 23 11 12 0.52 intergenic rs789390 PDE4D AU,AD 0.297724 0.3085 Uncertain 5_59899413_G->A 5 59899413 59899413 G A snp 1782.77 0/1 99 176 99 77 0.44 intronic rs11740327 DEPDC1B AU NM_001145208 exon2 c.5815+19G>A 0.411941 0.5417 0.453707 0.5018 0.5407 Uncertain 5_59940502_A->T 5 59940502 59940502 A T snp 757.77 0/1 99 53 23 30 0.57 intronic rs6877561 DEPDC1B AU NM_001145208 exon6 c.46992-69A>T 0.69369 0.5913 Uncertain 5_59983792_A->T 5 59983792 59983792 A T snp 155.77 0/1 66 9 3 6 0.67 intronic rs78390427 DEPDC1B AU NM_001145208 exon9 c.89475+738A>T 0.160144 0.2014 Uncertain 5_59984897_A->T 5 59984897 59984897 A T snp 4176.77 1/1 99 160 0 160 1.0 intronic rs57521726 DEPDC1B AU NM_001145208 exon9 c.89475+1843A>T 0.592252 0.7758 0.5081 0.8060 Uncertain 5_59995820_G->C 5 59995820 59995820 G C snp 1450.77 0/1 99 143 81 62 0.43 intronic rs9942410 DEPDC1B AU NM_001145208 exon10 c.102293-52G>C Uncertain 5_60063511_G->T 5 60063511 60063511 G T snp 184.77 0/1 97 10 4 6 0.6 intronic rs1563517 ELOVL7 AU NM_001104558 exon5 c.13199-138G>T 0.331869 0.2173 Uncertain 5_60063576_G->A 5 60063576 60063576 G A snp 925.77 0/1 99 50 20 30 0.6 intronic rs1460958 ELOVL7 AU NM_001104558 exon5 c.13199-73G>A 0.669928 0.4335 Uncertain 5_60064633_T->- 5 60064633 60064633 T - indel 969.73 0/1 99 43 17 26 0.6 intronic rs34437042 ELOVL7 AU NM_001104558 exon5 c.13280+903delT 0.33147 0.2173 Uncertain 5_60083275_C->A 5 60083275 60083275 C A snp 1722.77 1/1 99 57 0 57 1.0 intronic rs10072745 ELOVL7 AU NM_001104558 exon7 c.32808+17C>A 0.640974 0.8998 0.572143 0.5570 0.8983 Uncertain 5_60170605_T->C 5 60170605 60170605 T C snp 54.74 1/1 6 2 0 2 1.0 intronic rs4647150 ERCC8 AR NM_000082 exon1 c.69+95T>C 0.436102 0.8105 Uncertain 5_60186618_C->T 5 60186618 60186618 C T snp 403.77 1/1 30 14 0 14 1.0 intronic rs2306350 ERCC8 AR NM_000082 exon3 c.16274-97C>T 0.847244 0.8651 Uncertain 5_60186975_C->A 5 60186975 60186975 C A snp 93.28 1/1 9 3 0 3 1.0 intronic rs2306351 ERCC8 AR NM_000082 exon3 c.16472+62C>A 0.848442 0.8651 Uncertain 5_60199363_C->T 5 60199363 60199363 C T snp 875.77 1/1 63 32 0 32 1.0 intronic rs4647102 ERCC8 AR NM_000082 exon7 c.29033-111C>T 0.69349 0.9474 0.623779 0.6659 0.9447 Uncertain 5_60217651_A->C 5 60217651 60217651 A C snp 48.74 1/1 6 2 0 2 1.0 intronic rs976080 ERCC8 AR NM_001007234 exon4 c.18474-229A>C 0.861621 0.9504 Uncertain 5_60240986_A->G 5 60240986 60240986 A G snp 214.84 1/1 18 6 0 6 1.0 UTR5 rs158922 NDUFAF2 AR,XD,AO 0.724241 0.9484 Uncertain 5_60241142_G->A 5 60241142 60241142 G A snp 1573.77 1/1 99 50 0 50 1.0 exonic rs158921 NDUFAF2 AR,XD,AO synonymous SNV NM_174889 exon1 c.G60A p.K20K 0.692891 0.9484 0.6387 0.9284 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000117705.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 5_60369083_A->G 5 60369083 60369083 A G snp 1358.77 1/1 96 51 0 51 1.0 intronic rs10471502 NDUFAF2 AR,XD,AO NM_174889 exon2 c.127959+42A>G 0.67512 0.9494 0.604340 0.6774 0.9477 Uncertain 5_60448903_-->AA 5 60448903 60448903 - AA indel 350.77 1/1 21 7 0 7 1.0 downstream rs33927273 NDUFAF2 AR,XD,AO 0.674121 0.9494 Uncertain 5_60628774_C->T 5 60628774 60628774 C T snp 251.77 0/1 99 31 19 12 0.39 exonic rs76811816 ZSWIM6 AD synonymous SNV NM_020928 exon1 c.C675T p.V225V 0.0700879 0.2024 0.0831 0.2167 Uncertain 5_60981850_T->C 5 60981850 60981850 T C snp 2694.77 1/1 99 92 0 92 1.0 ncRNA_intronic rs16893680 LOC101928651 AU 0.290535 0.5446 Uncertain 5_60982578_A->G 5 60982578 60982578 A G snp 86.28 1/1 9 3 0 3 1.0 ncRNA_intronic rs16893684 LOC101928651 AU 0.290335 0.5446 Uncertain 5_60982841_G->A 5 60982841 60982841 G A snp 5662.77 1/1 99 212 0 212 1.0 exonic rs16893687 C5orf64 AU nonsynonymous SNV NM_173667 exon3 c.G169A p.A57T 0.495607 0.6458 0.358452 0.4214 0.6803 1 T 0.0 P -0.945 T 0.0 T 0.0 T Pathogenic 5_60983027_G->C 5 60983027 60983027 G C snp 96.28 1/1 9 3 0 3 1.0 ncRNA_intronic rs13188780 LOC101928651 AU 0.708267 0.8056 Uncertain 5_61604204_C->A 5 61604204 61604204 C A snp 192.77 0/1 99 11 4 7 0.64 intronic rs4700006 KIF2A AD NM_001098511 exon1 c.64+1841C>A 0.478235 0.3532 Uncertain 5_61604456_T->C 5 61604456 61604456 T C snp 310.77 0/1 99 26 12 14 0.54 intronic rs4441833 KIF2A AD NM_001243952 exon2 c.4+118T>C 0.476438 0.3532 Uncertain 5_61642831_A->G 5 61642831 61642831 A G snp 228.77 0/1 99 16 8 8 0.5 intronic rs16890656 KIF2A AD NM_001098511 exon2 c.40657-125A>G 0.159545 0.2877 Uncertain 5_61643816_G->A 5 61643816 61643816 G A snp 915.77 0/1 99 59 24 35 0.59 intronic rs3776615 KIF2A AD NM_001098511 exon3 c.41575-58G>A 0.520966 0.6448 Uncertain 5_61648323_A->G 5 61648323 61648323 A G snp 147.77 0/1 99 11 6 5 0.45 intronic rs28720674 KIF2A AD NM_001098511 exon5 c.46115-91A>G 0.159545 0.2877 Uncertain 5_61657228_T->C 5 61657228 61657228 T C snp 1447.77 0/1 99 108 48 60 0.56 intronic rs247265 KIF2A AD NM_001098511 exon11 c.54993-64T>C 0.520767 0.6448 0.485320 Uncertain 5_61657377_A->T 5 61657377 61657377 A T snp 266.77 0/1 99 19 8 11 0.58 intronic rs247266 KIF2A AD NM_001098511 exon11 c.55057+21A>T 0.633986 0.6825 0.594468 0.5314 0.6531 Uncertain 5_61662429_C->T 5 61662429 61662429 C T snp 115.85 0/1 17 6 1 5 0.83 intronic rs12519766 KIF2A AD NM_001098511 exon16 c.60009+121C>T 0.189297 0.2907 Uncertain 5_61669490_T->C 5 61669490 61669490 T C snp 1610.77 0/1 99 108 44 64 0.59 intronic rs73104056 KIF2A AD NM_001098511 exon18 c.67214-23T>C 0.187899 0.2877 0.119945 0.1532 0.2892 Uncertain 5_61669503_T->C 5 61669503 61669503 T C snp 1814.77 0/1 99 135 60 75 0.56 intronic rs73104058 KIF2A AD NM_001098511 exon18 c.67214-10T>C 0.187899 0.2877 0.120406 0.1476 0.2797 Uncertain 5_61676902_G->T 5 61676902 61676902 G T snp 511.77 0/1 99 58 35 23 0.4 intronic rs247253 KIF2A AD NM_001098511 exon20 c.74645-42G>T 0.51857 0.6468 0.4457 0.6148 Uncertain 5_61676911_T->G 5 61676911 61676911 T G snp 562.77 0/1 99 67 41 26 0.39 intronic rs247254 KIF2A AD NM_001098511 exon20 c.74645-33T>G 0.630591 0.6845 0.589805 0.5274 0.6473 Uncertain 5_61694379_T->C 5 61694379 61694379 T C snp 1663.77 0/1 99 173 100 73 0.42 exonic rs247264 DIMT1 AU synonymous SNV NM_014473 exon6 c.A405G p.S135S 0.583866 0.6806 0.548132 0.5119 0.6521 Uncertain 5_61697859_C->T 5 61697859 61697859 C T snp 2317.77 0/1 99 195 98 97 0.5 splicing rs27089 DIMT1 AU NM_014473 exon10 c.13026-3C>T 0.551917 0.6766 0.527218 0.5274 0.6483 Pathogenic 5_61699231_A->C 5 61699231 61699231 A C snp 2566.77 0/1 99 249 137 112 0.45 intronic rs27693 DIMT1 AU NM_014473 exon11 c.14337+58A>C 0.408016 Uncertain 5_61699451_C->T 5 61699451 61699451 C T snp 1256.77 0/1 99 115 61 54 0.47 intronic rs26649 DIMT1 AU NM_014473 exon12 c.14684-69C>T 0.307308 0.4821 Uncertain 5_61733348_G->A 5 61733348 61733348 G A snp 197.77 0/1 58 9 2 7 0.78 intronic rs153857 IPO11 AU NM_016338 exon2 c.138+104G>A 0.676318 0.5159 Uncertain 5_61745738_T->- 5 61745738 61745738 T - indel 846.73 0/1 99 88 47 41 0.47 intronic rs11329383 IPO11 AU NM_016338 exon4 c.12647-15delT 0.652756 0.5407 0.6512 0.5673 Uncertain 5_61762880_A->G 5 61762880 61762880 A G snp 834.77 0/1 99 59 33 26 0.44 intronic rs35119 IPO11 AU NM_016338 exon6 c.29851-77A>G 0.408746 0.3155 Uncertain 5_61772535_G->T 5 61772535 61772535 G T snp 500.77 0/1 99 56 30 26 0.46 exonic rs26635 IPO11 AU synonymous SNV NM_001134779 exon9 c.G903T p.V301V 0.442492 0.3155 0.461312 0.4703 0.3482 Uncertain 5_61781127_C->A 5 61781127 61781127 C A snp 129.03 1/1 12 4 0 4 1.0 intronic rs26640 IPO11 AU NM_016338 exon12 c.48139-118C>A 1 1 Uncertain 5_61785936_T->C 5 61785936 61785936 T C snp 483.77 0/1 99 38 13 25 0.66 splicing rs26644 IPO11 AU NM_016338 exon15 c.52835-5T>C 0.568091 0.381 0.593615 0.5767 0.3970 Pathogenic 5_61826663_G->T 5 61826663 61826663 G T snp 1531.77 1/1 99 49 0 49 1.0 intronic rs32179 IPO11 AU NM_016338 exon22 c.93506+51G>T 0.845847 0.8105 0.805466 0.7756 0.7921 Uncertain 5_62073118_G->C 5 62073118 62073118 G C snp 2288.77 0/1 99 206 99 107 0.52 intergenic rs1845526 IPO11 AU 0.56889 0.4474 0.615391 0.6001 0.5232 Uncertain 5_62073272_T->C 5 62073272 62073272 T C snp 74.77 0/1 99 7 4 3 0.43 intergenic rs1445933 IPO11 AU 0.388978 0.3562 Uncertain 5_63496825_A->G 5 63496825 63496825 A G snp 491.77 0/1 99 41 21 20 0.49 intronic rs72769844 RNF180 AU NM_178532 exon2 c.135+56A>G 0.0970447 0.0357 Uncertain 5_63905068_A->G 5 63905068 63905068 A G snp 1626.77 0/1 99 165 89 76 0.46 exonic rs889248 RGS7BP AU nonsynonymous SNV NM_001271890 exon4 c.A364G p.I122V 0.782149 0.6131 0.857066 0.8321 0.5921 1 T 0.000 P -0.972 T 0.0 T 0.001 T Pathogenic 5_63989742_G->C 5 63989742 63989742 G C snp 275.77 0/1 99 25 15 10 0.4 intronic rs2305963 FAM159B AU NM_001164442 exon2 c.4883-1591G>C 0.389377 0.499 Uncertain 5_63991473_G->C 5 63991473 63991473 G C snp 1778.77 0/1 99 160 87 73 0.46 exonic rs2305962 FAM159B AU nonsynonymous SNV NM_001164442 exon2 c.G331C p.A111P 0.389776 0.501 0.3632 0.4398 0.42 T 0.0 P -0.916 T Pathogenic 5_64023981_C->T 5 64023981 64023981 C T snp 141.03 1/1 12 6 1 5 0.83 exonic rs275819 SREK1IP1 AU synonymous SNV NM_173829 exon4 c.G231A p.K77K 0.646366 0.5288 0.633573 0.6026 0.6028 Uncertain 5_64049914_C->T 5 64049914 64049914 C T snp 176.9 1/1 15 5 0 5 1.0 intronic rs1545678 SREK1IP1 AU NM_173829 exon4 c.29931-227C>T 0.396765 0.497 Uncertain 5_64064411_G->C 5 64064411 64064411 G C snp 764.77 0/1 99 66 30 36 0.55 UTR5 rs3756739 SREK1IP1 AU 0.242212 0.5099 0.149803 Uncertain 5_64064943_G->A 5 64064943 64064943 G A snp 751.77 0/1 99 50 17 33 0.66 UTR5 rs1363953 CWC27 AU 0.461262 0.5357 0.368907 0.2694 0.5448 Uncertain 5_64070617_-->AATTATGAC 5 64070617 64070617 - AATTATGAC indel 4683.73 1/1 99 38 0 38 1.0 splicing rs140062546 CWC27 AU NM_001297644 exon2 c.5641+3insAATTATGAC 0.637181 0.8462 0.500719 0.5712 0.8491 ID=COSM1620456;OCCURENCE=1(liver) Pathogenic 5_64077647_A->G 5 64077647 64077647 A G snp 54.74 1/1 6 2 0 2 1.0 intronic rs55793256 CWC27 AU NM_001297644 exon3 c.12774-100A>G 0.633586 0.8472 Uncertain 5_64077966_A->G 5 64077966 64077966 A G snp 88.28 1/1 9 3 0 3 1.0 intronic rs2011079 CWC27 AU NM_001297644 exon3 c.12887+106A>G 0.638578 0.8472 Uncertain 5_64084747_T->- 5 64084747 64084747 T - indel 142 0/1 12 9 2 7 0.78 intronic rs11340181 CWC27 AU NM_001297644 exon7 c.19804-30delT 0.613019 0.8442 0.6261 0.8534 Uncertain 5_64096047_T->- 5 64096047 64096047 T - indel 1108.73 0/1 99 65 33 32 0.49 intronic rs79929128 CWC27 AU NM_001297644 exon8 c.31101-27delT 0.374401 0.5069 0.331497 0.3338 0.5130 Uncertain 5_64096170_G->T 5 64096170 64096170 G T snp 751.77 0/1 99 68 35 33 0.49 intronic rs6449760 CWC27 AU NM_001297644 exon8 c.31181+16G>T 0.399161 0.5069 0.357912 0.3411 0.5123 Uncertain 5_64097145_C->G 5 64097145 64097145 C G snp 247.77 0/1 99 32 18 14 0.44 exonic rs7735338 CWC27 AU nonsynonymous SNV NM_001297644 exon9 c.C766G p.P256A 0.412939 0.5069 0.348651 0.3205 0.4581 0.74 T 0.0 P -0.930 T 0.0 T 0.001 T Pathogenic 5_64181566_T->G 5 64181566 64181566 T G snp 64.77 0/1 69 5 2 3 0.6 intronic rs113205609 CWC27 AU NM_001297644 exon11 c.116400+193T>G Uncertain 5_64267431_A->G 5 64267431 64267431 A G snp 1704.77 1/1 99 64 0 64 1.0 intronic rs2278352 CWC27 AU NM_001297644 exon12 c.202556-98A>G 0.339457 0.4653 Uncertain 5_64267595_T->C 5 64267595 64267595 T C snp 1784.77 1/1 99 67 0 67 1.0 exonic rs2278351 CWC27 AU synonymous SNV NM_001297644 exon12 c.T1108C p.L370L 0.339457 0.4653 0.267415 0.2683 0.4565 Uncertain 5_64313879_G->A 5 64313879 64313879 G A snp 1185.77 1/1 87 39 0 39 1.0 intronic rs2910769 CWC27 AU NM_001297644 exon13 c.249012-106G>A 0.896166 0.9058 Uncertain 5_64483759_T->C 5 64483759 64483759 T C snp 742.77 0/1 99 49 18 31 0.63 intronic rs16893475 ADAMTS6 AU NM_197941 exon4 c.36180-83T>C 0.177316 0.1091 Uncertain 5_64569381_C->A 5 64569381 64569381 C A snp 636.77 0/1 99 37 14 23 0.62 intronic rs17814262 ADAMTS6 AU NM_197941 exon14 c.121612+107C>A 0.0397364 0.0685 Uncertain 5_64569405_T->A 5 64569405 64569405 T A snp 699.77 1/1 51 22 0 22 1.0 intronic rs1423424 ADAMTS6 AU NM_197941 exon14 c.121612+131T>A 0.519768 0.4673 Uncertain 5_64747918_-->G 5 64747918 64747918 - G indel 2326.73 1/1 99 52 0 52 1.0 intronic rs3830368 ADAMTS6 AU NM_197941 exon20 c.300297-41insG 0.548722 0.2907 0.623322 0.5414 0.3138 Uncertain 5_64766519_A->T 5 64766519 64766519 A T snp 38.77 0/1 67 8 5 3 0.38 intronic rs181517355 ADAMTS6 AU NM_197941 exon23 c.318942-85A>T 0.223043 0.1151 Uncertain 5_64814189_AGATGGC->- 5 64814189 64814195 AGATGGC - indel 2387.73 1/1 69 23 0 23 1.0 UTR3 rs3050538 CENPK AU 0.188299 0.1359 Uncertain 5_64825102_C->T 5 64825102 64825102 C T snp 575.77 1/1 45 18 0 18 1.0 intronic rs1017576 CENPK AU NM_022145 exon5 c.10725+76C>T 0.814896 0.8929 Uncertain 5_64847543_T->C 5 64847543 64847543 T C snp 886.77 1/1 63 33 0 33 1.0 intronic rs6893491 CENPK AU NM_022145 exon7 c.33162+80T>C 0.790535 0.8929 Uncertain 5_64848412_C->T 5 64848412 64848412 C T snp 2120.77 1/1 99 79 0 79 1.0 intronic rs3213939 CENPK AU NM_022145 exon8 c.34075+36C>T 0.179712 0.1349 0.186798 0.2431 0.1586 Uncertain 5_64848442_T->C 5 64848442 64848442 T C snp 1973.77 1/1 99 71 0 71 1.0 intronic rs3213938 CENPK AU NM_022145 exon8 c.34075+66T>C 0.732228 0.8929 0.663891 Uncertain 5_64857425_ACAC->- 5 64857425 64857428 ACAC - indel 3104.73 1/1 99 79 0 79 1.0 intronic rs10560318 CENPK AU NM_022145 exon10 c.43090+34_43090+37delACAC 0.450679 0.2361 Uncertain 5_64859027_C->G 5 64859027 64859027 C G snp 56.74 1/1 6 2 0 2 1.0 upstream rs402645 CENPK AU 0.491214 0.3234 Uncertain 5_64859885_TG->- 5 64859885 64859886 TG - indel 367.75 1/1 24 8 0 8 1.0 intronic rs35326591 PPWD1 AU NM_001278926 exon2 c.402+219_402+220delTG 0.586861 0.4127 Uncertain 5_64863285_A->C 5 64863285 64863285 A C snp 844.77 1/1 63 27 0 27 1.0 intronic rs3756301 PPWD1 AU NM_001278926 exon3 c.4075-54A>C 0.178315 0.1369 Uncertain 5_64863484_-->A 5 64863484 64863484 - A indel 271.77 1/1 20 36 1 35 0.97 intronic rs35529383 PPWD1 AU NM_001278927 exon2 c.52+42insA 0.403554 0.2937 0.4026 0.3 Uncertain 5_64864657_A->C 5 64864657 64864657 A C snp 393.77 1/1 30 13 0 13 1.0 intronic rs152063 PPWD1 AU NM_001278927 exon3 c.2068-801A>C 0.578075 0.4137 Uncertain 5_64865405_A->G 5 64865405 64865405 A G snp 681.77 1/1 51 26 0 26 1.0 intronic rs149208 PPWD1 AU NM_001278927 exon3 c.2068-53A>G 0.615415 0.4137 Uncertain 5_64865658_T->C 5 64865658 64865658 T C snp 1667.77 1/1 99 57 0 57 1.0 intronic rs3752673 PPWD1 AU NM_001278926 exon5 c.6440-46T>C 0.178315 0.1369 0.186558 0.2422 0.1617 Uncertain 5_64881936_A->G 5 64881936 64881936 A G snp 2991.77 1/1 99 112 3 109 0.97 exonic rs27141 PPWD1 AU synonymous SNV NM_001278929 exon9 c.A1257G p.P419P 0.578474 0.4137 0.640089 0.6223 0.4398 Uncertain 5_64890479_A->C 5 64890479 64890479 A C snp 2293.77 1/1 99 101 2 99 0.98 intronic rs36135 TRIM23 AU NM_001656 exon2 c.2877+7A>C 0.497804 0.3859 0.511306 0.6302 0.4627 Uncertain 5_64900680_C->T 5 64900680 64900680 C T snp 563.77 0/1 99 47 25 22 0.47 intronic rs144742139 TRIM23 AU NM_001656 exon5 c.13142-57C>T 0.000599042 0.003 Uncertain 5_64901002_A->G 5 64901002 64901002 A G snp 56.74 1/1 6 2 0 2 1.0 intronic rs154943 TRIM23 AU NM_001656 exon5 c.13277+130A>G 0.601637 0.4137 Uncertain 5_64906617_T->A 5 64906617 64906617 T A snp 896.77 1/1 66 27 0 27 1.0 intronic rs37330 TRIM23 AU NM_001656 exon7 c.19092-70T>A 0.658746 0.4137 Uncertain 5_64909487_A->G 5 64909487 64909487 A G snp 1331.77 1/1 96 43 0 43 1.0 intronic rs16894099 TRIM23 AU NM_001656 exon9 c.22329-437A>G 0.244808 0.2163 Uncertain 5_64919877_C->G 5 64919877 64919877 C G snp 503.77 1/1 39 14 0 14 1.0 intronic rs462907 TRIM23 AU NM_001656 exon11 c.32425-143C>G 0.66853 0.4147 Uncertain 5_64919991_G->A 5 64919991 64919991 G A snp 6027.77 1/1 99 235 0 235 1.0 intronic rs154854 TRIM23 AU NM_001656 exon11 c.32425-29G>A 0.577476 0.4137 0.640012 0.6218 0.4376 Uncertain 5_64920803_C->T 5 64920803 64920803 C T snp 1312.77 1/1 96 37 0 37 1.0 UTR5 rs37254 TRAPPC13 AU 0.577476 0.4137 Uncertain 5_64925256_C->T 5 64925256 64925256 C T snp 54.74 1/1 6 2 0 2 1.0 intronic rs43207 TRAPPC13 AU NM_001093756 exon1 c.46+4323C>T 0.443091 0.3343 Uncertain 5_64933457_-->A 5 64933457 64933457 - A indel 50 0/1 12 7 2 5 0.71 intronic rs374091978 TRAPPC13 AU NM_001093756 exon4 c.12635-65insA Uncertain 5_64933505_A->G 5 64933505 64933505 A G snp 1645.77 1/1 99 59 0 59 1.0 intronic rs11741124 TRAPPC13 AU NM_001093756 exon4 c.12635-17A>G 0.177316 0.1389 0.192472 0.2505 0.1708 Uncertain 5_64942799_A->G 5 64942799 64942799 A G snp 476.77 1/1 36 15 0 15 1.0 intronic rs154955 TRAPPC13 AU NM_001093756 exon5 c.21994-82A>G 0.554313 0.4246 Uncertain 5_64942852_-->T 5 64942852 64942852 - T indel 189.73 0/1 77 27 6 21 0.78 intronic rs369270319 TRAPPC13 AU NM_001093756 exon5 c.21994-29insT 0.2577 0.2552 Uncertain 5_64946836_G->T 5 64946836 64946836 G T snp 622.77 1/1 45 26 0 26 1.0 intronic rs154853 TRAPPC13 AU NM_001093756 exon6 c.25822+127G>T 0.579273 0.4236 Uncertain 5_64946869_A->G 5 64946869 64946869 A G snp 207.77 0/1 99 15 4 11 0.73 intronic rs147706067 TRAPPC13 AU NM_001093756 exon6 c.25822+160A>G 0.00399361 0.0198 Uncertain 5_64948611_A->G 5 64948611 64948611 A G snp 56.74 1/1 6 2 0 2 1.0 intronic rs27148 TRAPPC13 AU NM_001093756 exon7 c.27485+239A>G 0.558107 0.4246 Uncertain 5_64957686_A->G 5 64957686 64957686 A G snp 995.77 1/1 75 29 0 29 1.0 intronic rs37347 TRAPPC13 AU NM_001093756 exon10 c.36989-190A>G 0.572085 0.4246 Uncertain 5_64957718_T->C 5 64957718 64957718 T C snp 1829.77 1/1 99 54 0 54 1.0 intronic rs37346 TRAPPC13 AU NM_001093756 exon10 c.36989-158T>C 0.572284 0.4256 Uncertain 5_64960311_-->TCTC 5 64960311 64960311 - TCTC indel 6039.73 1/1 99 135 0 135 1.0 intronic rs36031543 TRAPPC13 AU NM_001093756 exon12 c.39443-19insTCTC 0.5897 0.4413 Uncertain 5_64965900_T->C 5 64965900 64965900 T C snp 423.77 1/1 33 12 0 12 1.0 UTR3 rs1549192 SGTB AU 0.174121 0.124 Uncertain 5_64968171_T->- 5 64968171 64968171 T - indel 1078.73 1/1 99 48 0 48 1.0 intronic rs397723473 SGTB AU NM_019072 exon3 c.2036+63delT 0.605631 0.4246 0.671219 Uncertain 5_64976687_C->T 5 64976687 64976687 C T snp 210.84 1/1 18 6 0 6 1.0 intronic rs3213798 SGTB AU NM_019072 exon5 c.10549+66C>T 0.268171 0.2272 Uncertain 5_65008947_T->- 5 65008947 65008947 T - indel 918.73 1/1 93 39 0 39 1.0 intronic rs3833969 SGTB AU NM_019072 exon9 c.42819+56delT 0.60024 0.4008 Uncertain 5_65016452_A->G 5 65016452 65016452 A G snp 558.77 1/1 42 18 0 18 1.0 intronic rs9291846 SGTB AU NM_019072 exon10 c.50462-82A>G 0.297524 0.2361 Uncertain 5_65073224_C->A 5 65073224 65073224 C A snp 3555.77 1/1 99 131 1 130 0.99 intronic rs34979 NLN AU NM_020726 exon4 c.55053-29C>A 0.9373 0.9058 0.930032 0.9187 0.8945 Uncertain 5_65075858_A->G 5 65075858 65075858 A G snp 185.9 1/1 15 6 0 6 1.0 intronic rs252648 NLN AU NM_020726 exon5 c.57805-147A>G 0.53155 0.3423 Uncertain 5_65105622_G->A 5 65105622 65105622 G A snp 465.77 0/1 99 22 7 15 0.68 intronic rs2561196 NLN AU NM_020726 exon10 c.87328+94G>A 0.678115 0.5665 Uncertain 5_65108215_A->G 5 65108215 65108215 A G snp 255.77 0/1 99 18 9 9 0.5 exonic rs2254485 NLN AU synonymous SNV NM_020726 exon12 c.A1977G p.P659P 0.699481 0.5665 0.760803 0.6968 0.5433 1.0 P -1.045 T Likely benign 5_65288791_A->G 5 65288791 65288791 A G snp 347.78 1/1 27 9 0 9 1.0 intronic rs27132 ERBB2IP AU NM_001253697 exon3 c.189+56A>G 0.673123 0.5397 Uncertain 5_65309609_G->C 5 65309609 65309609 G C snp 99.28 1/1 9 3 0 3 1.0 intronic rs433773 ERBB2IP AU NM_001253697 exon6 c.20920+143G>C 0.789736 0.5337 Uncertain 5_65317181_C->T 5 65317181 65317181 C T snp 791.77 1/1 57 30 0 30 1.0 exonic rs706679 ERBB2IP AU synonymous SNV NM_001253697 exon8 c.C565T p.L189L 0.672125 0.5357 0.743540 0.7708 0.5172 Uncertain 5_65317332_A->T 5 65317332 65317332 A T snp 56.74 1/1 6 2 0 2 1.0 intronic rs784276 ERBB2IP AU NM_001253697 exon8 c.28667+119A>T 0.644369 0.5357 Uncertain 5_65317338_T->C 5 65317338 65317338 T C snp 56.74 1/1 6 2 0 2 1.0 intronic rs706680 ERBB2IP AU NM_001253697 exon8 c.28667+125T>C 0.672324 0.5357 Uncertain 5_65321311_C->T 5 65321311 65321311 C T snp 835.77 0/1 99 73 37 36 0.49 exonic rs3213837 ERBB2IP AU nonsynonymous SNV NM_001253697 exon11 c.C821T p.S274L 0.121006 0.0942 0.115195 0.1546 0.0989 0.34 T 0.999 P -1.022 T 0.024 T 0.018 T Pathogenic 5_65322135_A->G 5 65322135 65322135 A G snp 532.77 0/1 99 49 26 23 0.47 exonic ERBB2IP AU synonymous SNV NM_001253697 exon13 c.A1026G p.G342G Uncertain 5_65892448_C->G 5 65892448 65892448 C G snp 561.77 0/1 99 45 22 23 0.51 UTR5 rs4502771 MAST4 AU 0.277157 0.3452 0.238979 0.3258 0.3837 Uncertain 5_65892594_C->T 5 65892594 65892594 C T snp 890.77 0/1 99 79 42 37 0.47 exonic rs73102407 MAST4 AU synonymous SNV NM_001164664 exon1 c.C111T p.S37S 0.080947 0.1728 0.3660 Uncertain 5_66084378_A->G 5 66084378 66084378 A G snp 925.77 0/1 99 76 39 37 0.49 intronic rs2252849 MAST4 AU NM_001164664 exon3 c.192014-119A>G 0.226438 0.4573 Uncertain 5_66084676_G->A 5 66084676 66084676 G A snp 117.77 0/1 99 7 3 4 0.57 intronic rs183763 MAST4 AU NM_001164664 exon3 c.192139+54G>A 0.221446 0.4554 Uncertain 5_66166428_AT->- 5 66166428 66166429 AT - indel 909.73 0/1 99 35 16 19 0.54 intronic rs1160971 MAST4 AU NM_015183 exon2 c.71107-29350_71107-29349delAT 0.353235 0.5268 Uncertain 5_66195701_C->T 5 66195701 66195701 C T snp 181.77 0/1 99 26 16 10 0.38 intronic rs458115 MAST4 AU NM_015183 exon2 c.71107-77C>T 0.49381 0.3234 0.561323 Uncertain 5_66195774_T->C 5 66195774 66195774 T C snp 98.77 0/1 99 26 19 7 0.27 splicing rs7711116 MAST4 AU NM_015183 exon2 c.71107-4T>C 0.178514 0.2153 0.112374 0.1422 0.2536 Pathogenic 5_66212985_C->G 5 66212985 66212985 C G snp 621.77 0/1 99 72 44 28 0.39 intronic rs37567 MAST4 AU NM_015183 exon3 c.88175+139C>G 0.700679 0.5258 Uncertain 5_66254993_C->T 5 66254993 66254993 C T snp 283.77 0/1 99 44 28 16 0.36 UTR5 rs549085309 MAST4 AU Uncertain 5_66255180_C->T 5 66255180 66255180 C T snp 1489.77 0/1 99 110 51 59 0.54 intronic rs16896058 MAST4 AU NM_001290226 exon1 c.47+58C>T 0.0163738 0.0625 Uncertain 5_66255256_A->C 5 66255256 66255256 A C snp 670.77 0/1 99 66 35 31 0.47 intronic rs2280175 MAST4 AU NM_001290226 exon1 c.47+134A>C 0.01877 0.0744 Uncertain 5_66255326_A->G 5 66255326 66255326 A G snp 224.77 0/1 99 19 11 8 0.42 intronic rs2280174 MAST4 AU NM_001290226 exon1 c.47+204A>G 0.120208 0.1091 Uncertain 5_66416764_C->A 5 66416764 66416764 C A snp 393.77 0/1 99 34 20 14 0.41 intronic rs2254790 MAST4 AU NM_015183 exon13 c.292173-80C>A 0.428315 0.3433 Uncertain 5_66429329_G->T 5 66429329 66429329 G T snp 4433.77 1/1 99 165 0 165 1.0 intronic rs2371882 MAST4 AU NM_015183 exon16 c.304670-12G>T 0.999002 0.995 0.9997 0.9964 Uncertain 5_66438174_C->T 5 66438174 66438174 C T snp 1044.77 0/1 99 65 30 35 0.54 intronic rs10078626 MAST4 AU NM_015183 exon20 c.313577-74C>T 0.103235 0.0923 Uncertain 5_66459878_G->C 5 66459878 66459878 G C snp 1917.77 0/1 99 134 60 74 0.55 exonic rs1705399 MAST4 AU nonsynonymous SNV NM_001290227 exon26 c.G4088C p.R1363P 0.950879 0.9028 0.972519 0.9583 0.9035 1 T 0.0 P -0.975 T 0.0 T 0.0 T Pathogenic 5_66480004_T->C 5 66480004 66480004 T C snp 7165.77 1/1 99 250 0 250 1.0 exonic rs1697144 CD180 AU nonsynonymous SNV NM_005582 exon3 c.A667G p.I223V 0.995008 0.9752 0.999923 0.9979 0.9740 0.59 T 0.0 P -1.003 T 0.0 T 0.0 T Pathogenic 5_67522722_C->T 5 67522722 67522722 C T snp 1684.77 0/1 99 127 59 68 0.54 exonic rs706713 PIK3R1 AR,AD synonymous SNV NM_181523 exon2 c.C219T p.Y73Y 0.419329 0.6746 0.293326 0.3129 0.7012 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000147276.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 5_67522851_A->C 5 67522851 67522851 A C snp 735.77 0/1 99 38 10 28 0.74 intronic rs706714 PIK3R1 AR,AD NM_181523 exon2 c.334+14A>C 0.42492 0.7034 0.293878 0.3317 0.7275 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000147277.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 5_67535810_A->C 5 67535810 67535810 A C snp 561.77 0/1 99 53 31 22 0.42 intronic rs72757662 PIK3R1 AR,AD NM_181523 exon2 c.334+12973A>C 0.132588 0.1508 0.0340 0.2045 Uncertain 5_67584618_T->C 5 67584618 67584618 T C snp 1592.77 0/1 99 154 80 74 0.48 intronic rs774703959 PIK3R1 AR,AD NM_181524 exon1 c.16+39T>C 8.238e-06 0 Uncertain 5_67588148_G->A 5 67588148 67588148 G A snp 1584.77 0/1 99 127 57 70 0.55 exonic rs3730089 PIK3R1 AR,AD nonsynonymous SNV NM_181523 exon8 c.G978A p.M326I 0.220447 0.1657 0.238275 0.1742 0.1699 0.28 T 1.000 P -1.011 T 0.0 T 0.0 T CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000121812.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 ID=COSM3727824;OCCURENCE=1(skin),1(upper_aerodigestive_tract) ID=CM080497;DIS=Colon cancer, increased risk, association with;TAG=DFP;PUB=18245521 DFP Pathogenic 5_67592281_G->A 5 67592281 67592281 G A snp 151.77 0/1 99 16 10 6 0.38 intronic rs895304 PIK3R1 AR,AD NM_181504 exon9 c.5613+112G>A 0.307109 0.3442 Uncertain 5_68390203_C->G 5 68390203 68390203 C G snp 1080.77 0/1 99 109 58 51 0.47 intronic rs337260 SLC30A5 AU NM_022902 exon1 c.83+38C>G 0.218051 0.372 0.2561 0.4189 Uncertain 5_68390284_C->T 5 68390284 68390284 C T snp 1011.77 1/1 75 34 0 34 1.0 intronic rs337259 SLC30A5 AU NM_022902 exon1 c.83+119C>T 0.496206 0.5357 Uncertain 5_68396764_-->G 5 68396764 68396764 - G indel 182.73 0/1 99 26 12 14 0.54 intronic rs3833634 SLC30A5 AU NM_022902 exon2 c.6674+8insG 0.1868 0.2959 Uncertain 5_68400583_C->A 5 68400583 68400583 C A snp 472.77 0/1 99 56 33 23 0.41 intronic rs78986159 SLC30A5 AU NM_024055 exon4 c.10485+16C>A 0.158347 0.1617 0.163667 0.2138 0.1600 Uncertain 5_68400595_TAT->- 5 68400595 68400597 TAT - indel 1022.73 0/1 99 51 26 25 0.49 intronic rs149336330 SLC30A5 AU NM_024055 exon4 c.10485+28_10485+30delTAT 0.266773 0.1637 0.277893 0.2661 0.1648 Uncertain 5_68408841_T->A 5 68408841 68408841 T A snp 56.74 1/1 6 3 0 3 1.0 intronic rs164394 SLC30A5 AU NM_022902 exon6 c.18884-125T>A 0.402356 0.5397 Uncertain 5_68409094_A->C 5 68409094 68409094 A C snp 1046.77 1/1 75 42 1 41 0.98 intronic rs164393 SLC30A5 AU NM_022902 exon6 c.18972+40A>C 0.729034 0.8869 0.669256 0.6699 0.8615 Uncertain 5_68411010_C->T 5 68411010 68411010 C T snp 737.77 1/1 57 23 0 23 1.0 intronic rs240809 SLC30A5 AU NM_022902 exon8 c.20981-53C>T 0.402356 0.5397 Uncertain 5_68411383_A->T 5 68411383 68411383 A T snp 50.74 1/1 6 2 0 2 1.0 intronic rs164580 SLC30A5 AU NM_022902 exon8 c.21152+149A>T 0.397764 0.5407 Uncertain 5_68412048_-->T 5 68412048 68412048 - T indel 1518.73 1/1 99 43 0 43 1.0 intronic rs34215592 SLC30A5 AU NM_022902 exon9 c.21959+7insT 0.730032 0.8849 0.670979 0.6686 0.8570 Uncertain 5_68413043_T->- 5 68413043 68413043 T - indel 3114.73 1/1 99 100 0 100 1.0 intronic rs3840519 SLC30A5 AU NM_022902 exon11 c.22983-22delT 0.375339 0.4700 0.5781 Uncertain 5_68415932_G->A 5 68415932 68415932 G A snp 59.74 1/1 6 3 0 3 1.0 intronic rs164391 SLC30A5 AU NM_022902 exon12 c.24373+1477G>A 0.401957 0.5377 Uncertain 5_68417643_C->T 5 68417643 68417643 C T snp 2949.77 1/1 99 117 0 117 1.0 exonic rs164578 SLC30A5 AU synonymous SNV NM_022902 exon13 c.C1692T p.H564H 0.423722 0.5397 0.399354 0.4347 0.5353 Uncertain 5_68417755_A->G 5 68417755 68417755 A G snp 349.78 1/1 27 9 0 9 1.0 intronic rs164577 SLC30A5 AU NM_022902 exon13 c.27640+33A>G 0.42472 0.5397 0.399123 0.4452 0.5461 Uncertain 5_68419054_A->T 5 68419054 68419054 A T snp 4327.77 1/1 99 155 0 155 1.0 exonic rs164572 SLC30A5 AU synonymous SNV NM_022902 exon14 c.A1800T p.T600T 0.402356 0.5397 0.375058 0.4240 0.5349 Uncertain 5_68463014_G->T 5 68463014 68463014 G T snp 135.03 1/1 12 5 0 5 1.0 UTR5 rs164390 CCNB1 AU 0.48143 0.4613 0.426851 ID=CR143568;DIS=Coronary in-stent restenosis, increased risk;TAG=DFP;PUB=24395923 DFP Uncertain 5_68463606_G->A 5 68463606 68463606 G A snp 120.77 0/1 30 6 2 4 0.67 intronic rs163442 CCNB1 AU NM_031966 exon2 c.645-128G>A 0.48143 0.4613 Uncertain 5_68464234_A->G 5 68464234 68464234 A G snp 295.77 0/1 99 25 14 11 0.44 intronic rs163443 CCNB1 AU NM_031966 exon3 c.1081+64A>G 0.482428 0.4613 Uncertain 5_68469923_G->T 5 68469923 68469923 G T snp 40.78 0/1 27 3 1 2 0.67 intronic rs875459 CCNB1 AU NM_031966 exon5 c.6988-154G>T 0.485423 0.4613 Uncertain 5_68470559_T->C 5 68470559 68470559 T C snp 344.77 0/1 99 25 14 11 0.44 intronic rs426392 CCNB1 AU NM_031966 exon6 c.7614-144T>C 0.697484 0.7093 Uncertain 5_68470599_-->ATTA 5 68470599 68470599 - ATTA indel 2012.73 0/1 99 83 49 34 0.41 intronic rs2069436 CCNB1 AU NM_031966 exon6 c.7614-104insATTA 0.635982 0.497 Uncertain 5_68485366_C->G 5 68485366 68485366 C G snp 873.77 0/1 99 56 24 32 0.57 upstream rs648489 CENPH AU 0.5002 0.4623 Uncertain 5_68491714_-->AGTCAAG 5 68491714 68491714 - AGTCAAG indel 526.73 0/1 99 19 11 8 0.42 intronic rs11283275 CENPH AU NM_022909 exon4 c.6157+96insAGTCAAG 0.499002 0.4623 Uncertain 5_68492746_A->G 5 68492746 68492746 A G snp 54.74 1/1 6 2 0 2 1.0 intronic rs350106 CENPH AU NM_022909 exon5 c.7418-133A>G 0.728435 0.7063 Uncertain 5_68513572_C->G 5 68513572 68513572 C G snp 882.77 0/1 99 64 32 32 0.5 upstream MRPS36 AU 0.502596 0.4623 Uncertain 5_68513599_G->T 5 68513599 68513599 G T snp 1471.77 0/1 99 108 57 51 0.47 UTR5 MRPS36 AU 0.302117 0.2907 0.383925 Uncertain 5_68525027_C->T 5 68525027 68525027 C T snp 672.77 0/1 99 36 9 27 0.75 intronic MRPS36 AU NM_033281 exon4 c.11378-7C>T 0.461062 0.4623 0.401123 0.4391 0.4561 Uncertain 5_68531253_C->T 5 68531253 68531253 C T snp 734.77 0/1 99 84 47 37 0.44 exonic rs2972388 CDK7 AU synonymous SNV NM_001799 exon2 c.C99T p.N33N 0.629792 0.499 0.596263 0.5842 0.5091 Uncertain 5_68546706_A->G 5 68546706 68546706 A G snp 420.77 0/1 99 28 11 17 0.61 intronic rs2972367 CDK7 AU NM_001799 exon3 c.17442-1538A>G 0.291933 0.381 0.3433 0.3889 Uncertain 5_68550631_T->C 5 68550631 68550631 T C snp 240.77 0/1 99 29 19 10 0.34 intronic rs2054975 CDK7 AU NM_001799 exon4 c.19694+135T>C 0.291733 0.379 Uncertain 5_68550635_A->G 5 68550635 68550635 A G snp 238.77 0/1 99 28 19 9 0.32 intronic rs2054976 CDK7 AU NM_001799 exon4 c.19694+139A>G 0.291733 0.379 Uncertain 5_68551507_T->G 5 68551507 68551507 T G snp 1289.77 0/1 99 95 39 56 0.59 intronic rs2291519 CDK7 AU NM_001799 exon5 c.20553+152T>G 0.631589 0.503 0.6417 0.5881 Uncertain 5_68555954_C->T 5 68555954 68555954 C T snp 110.77 0/1 99 9 4 5 0.56 intronic rs2130757 CDK7 AU NM_001799 exon7 c.24961+191C>T 0.642372 0.503 Uncertain 5_68558282_G->C 5 68558282 68558282 G C snp 74.77 0/1 99 7 4 3 0.43 intronic rs34449359 CDK7 AU NM_001799 exon8 c.27329+151G>C 0.291534 0.379 Uncertain 5_68581389_G->A 5 68581389 68581389 G A snp 359.77 0/1 99 26 13 13 0.5 intronic rs3890705 CCDC125 AU NM_176816 exon2 c.2739+95G>A 0.273762 0.2837 Uncertain 5_68596068_C->G 5 68596068 68596068 C G snp 332.78 1/1 27 9 0 9 1.0 intronic rs28704183 CCDC125 AU NM_176816 exon5 c.17399+114C>G 0.996206 1 Uncertain 5_68602746_G->C 5 68602746 68602746 G C snp 671.77 0/1 99 63 34 29 0.46 intronic rs6881767 CCDC125 AU NM_176816 exon7 c.24174+17G>C 0.408546 0.4087 0.413318 0.4508 0.4292 Uncertain 5_68609885_G->T 5 68609885 68609885 G T snp 588.77 0/1 99 63 35 28 0.44 intronic rs11749723 CCDC125 AU NM_176816 exon10 c.31318+12G>T 0.434174 0.4573 0.4157 Uncertain 5_68610009_A->C 5 68610009 68610009 A C snp 99.28 1/1 9 3 0 3 1.0 intronic rs28462372 CCDC125 AU NM_176816 exon10 c.31318+136A>C 0.79373 0.8958 Uncertain 5_68616301_T->C 5 68616301 68616301 T C snp 3520.77 0/1 99 250 120 130 0.52 exonic rs139387249 CCDC125 AU nonsynonymous SNV NM_001297696 exon2 c.A67G p.M23V 0.00419329 0.0208 0.000077 0.0012 0.0151 0.03 T 0.962 N -1.014 T 0.206 T 0.085 T Pathogenic 5_68616331_C->T 5 68616331 68616331 C T snp 2654.77 0/1 99 250 139 111 0.44 exonic rs10471774 CCDC125 AU nonsynonymous SNV NM_001297696 exon2 c.G37A p.V13M 0.260583 0.2837 0.337460 0.3684 0.2950 0.11 T 0.0 P -0.914 T 0.994 D 0.649 D Pathogenic 5_68665722_C->A 5 68665722 68665722 C A snp 77.77 0/1 99 6 3 3 0.5 UTR5 AK6 AU Uncertain 5_68665736_T->C 5 68665736 68665736 T C snp 96.28 1/1 9 3 0 3 1.0 UTR5 rs3756400 AK6 AU 0.802915 0.879 Uncertain 5_68688608_T->C 5 68688608 68688608 T C snp 1098.77 0/1 99 101 54 47 0.47 intronic rs299080 RAD17 AU NM_001278622 exon13 c.20946-373T>C 0.503195 0.4881 0.5413 0.4848 Uncertain 5_68695940_T->G 5 68695940 68695940 T G snp 116.77 0/1 99 14 8 6 0.43 exonic rs1045051 RAD17 AU nonsynonymous SNV NM_133339 exon14 c.T1670G p.L557R 0.254792 0.3155 0.241196 0.2992 0.3119 0 D 1.000 P -1.039 T 1.0 D 1.0 D Pathogenic 5_68696035_-->TTTATTTA 5 68696035 68696035 - TTTATTTA indel 442.8 1/1 18 10 0 10 1.0 intronic rs142095225 RAD17 AU NM_001278622 exon16 c.27961+39insTTTATTTA 0.788738 0.874 0.709116 0.4433 0.2277 Uncertain 5_68706252_G->T 5 68706252 68706252 G T snp 283.78 1/1 24 8 0 8 1.0 intronic rs10940223 RAD17 AU NM_001278622 exon17 c.38284-67G>T 0.796725 0.879 0.856203 Uncertain 5_68706438_G->A 5 68706438 68706438 G A snp 1539.77 1/1 99 60 0 60 1.0 intronic rs6871685 RAD17 AU NM_001278622 exon17 c.38342+61G>A 0.797324 0.879 0.856423 Uncertain 5_68715310_C->T 5 68715310 68715310 C T snp 2823.77 0/1 99 250 139 111 0.44 exonic rs1185246 MARVELD2 AR nonsynonymous SNV NM_001038603 exon2 c.C98T p.T33I 0.483027 0.4881 0.467477 0.4997 0.4862 0.12 T 0.0 P -0.946 T 0.779 T 0.277 P CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000036814.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 5_68720419_T->G 5 68720419 68720419 T G snp 924.77 0/1 99 104 60 44 0.42 intronic rs299099 MARVELD2 AR NM_001038603 exon3 c.5215-8T>G 0.281749 0.3909 0.342356 0.3807 0.4095 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000036810.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 5_68728544_G->A 5 68728544 68728544 G A snp 1191.77 0/1 99 113 62 51 0.45 intronic rs299075 MARVELD2 AR NM_001244734 exon3 c.13290+42G>A 0.282149 0.3909 0.343918 0.3791 0.4092 Uncertain 5_68862362_G->- 5 68862362 68862362 G - indel 400.73 1/1 35 22 1 21 0.95 intronic rs371199291 GTF2H2C AU NM_001098728 exon4 c.1456-53delG Uncertain 5_70307464_T->C 5 70307464 70307464 T C snp 3703.77 1/1 99 128 0 128 1.0 intronic NAIP AU NM_004536 exon13 c.41271+263T>C 0.873602 0.8958 Uncertain 5_70308251_C->T 5 70308251 70308251 C T snp 5030.77 1/1 99 196 1 195 0.99 exonic NAIP AU synonymous SNV NM_004536 exon4 c.G492A p.A164A 0.872404 0.8958 0.817328 0.8021 0.9029 Uncertain 5_70357186_C->A 5 70357186 70357186 C A snp 271.77 0/1 99 159 119 40 0.25 intronic rs199839332 GTF2H2 AU NM_001515 exon13 c.25632+51C>A 0.4945 0.4880 Uncertain 5_70357189_C->A 5 70357189 70357189 C A snp 253.77 0/1 99 159 124 35 0.22 intronic rs201185853 GTF2H2 AU NM_001515 exon13 c.25632+54C>A Uncertain 5_70751818_T->G 5 70751818 70751818 T G snp 4779.77 1/1 99 178 0 178 1.0 exonic rs3748043 BDP1 AU nonsynonymous SNV NM_018429 exon1 c.T114G p.D38E 0.778155 0.8909 0.767143 0.8247 0.8875 1 T 1.000 P -0.989 T 0.0 T 0.0 T Pathogenic 5_70754702_A->T 5 70754702 70754702 A T snp 846.77 0/1 99 42 14 28 0.67 intronic rs773437852 BDP1 AU NM_018429 exon2 c.2978+20A>T 5.964e-05 0.0008 Uncertain 5_70763059_G->A 5 70763059 70763059 G A snp 135.03 1/1 12 4 0 4 1.0 intronic rs6452722 BDP1 AU NM_018429 exon6 c.11476-121G>A 0.788938 0.8839 Uncertain 5_70763088_A->G 5 70763088 70763088 A G snp 459.77 1/1 36 13 0 13 1.0 intronic rs7442961 BDP1 AU NM_018429 exon6 c.11476-92A>G 0.439097 0.378 Uncertain 5_70763461_C->T 5 70763461 70763461 C T snp 54.74 1/1 6 2 0 2 1.0 intronic rs13185743 BDP1 AU NM_018429 exon6 c.11610+147C>T 0.399161 0.3611 Uncertain 5_70786726_-->AC 5 70786726 70786726 - AC indel 696.73 1/1 42 14 0 14 1.0 intronic rs10641531 BDP1 AU NM_018429 exon11 c.35106-84insAC 0.439297 0.378 Uncertain 5_70800538_G->A 5 70800538 70800538 G A snp 1847.77 1/1 99 72 0 72 1.0 exonic rs3761967 BDP1 AU nonsynonymous SNV NM_018429 exon16 c.G2332A p.V778M 0.432708 0.379 0.447764 0.4618 0.3796 0.16 T 0.000 P -0.948 T 0.655 T 0.231 P Pathogenic 5_70805273_C->- 5 70805273 70805273 C - indel 357.73 1/1 33 11 0 11 1.0 intronic rs36098798 BDP1 AU NM_018429 exon17 c.53587-18delC 0.382788 0.3631 0.456750 0.3935 0.3424 Uncertain 5_70806457_G->A 5 70806457 70806457 G A snp 6855.77 1/1 99 248 3 245 0.99 exonic rs715748 BDP1 AU nonsynonymous SNV NM_018429 exon17 c.G3538A p.G1180S 0.439696 0.379 0.450042 0.4631 0.3793 0.16 T 0.000 P -0.930 T 0.0 T 0.0 T Pathogenic 5_70806649_T->A 5 70806649 70806649 T A snp 4777.77 1/1 99 157 0 157 1.0 exonic rs1961760 BDP1 AU nonsynonymous SNV NM_018429 exon17 c.T3730A p.F1244I 0.439896 0.379 0.453530 0.4632 0.3793 0.23 T 0.000 P -0.918 T 0.0 T 0.0 T Pathogenic 5_70806711_C->G 5 70806711 70806711 C G snp 4053.77 1/1 99 130 0 130 1.0 exonic rs715747 BDP1 AU nonsynonymous SNV NM_018429 exon17 c.C3792G p.I1264M 0.790735 0.8899 0.771859 0.8254 0.8878 0.25 T 0.000 P -1.021 T 0.0 T 0.0 T Pathogenic 5_70806958_G->A 5 70806958 70806958 G A snp 4825.77 1/1 99 176 1 175 0.99 exonic rs6886336 BDP1 AU nonsynonymous SNV NM_018429 exon17 c.G4039A p.V1347M 0.821086 0.8839 0.802906 0.8343 0.8811 0.36 T 0.000 P -1.004 T 0.001 T 0.001 T Pathogenic 5_70807991_G->A 5 70807991 70807991 G A snp 56.74 1/1 6 2 0 2 1.0 intronic rs418738 BDP1 AU NM_018429 exon18 c.56363-76G>A 0.399561 0.3621 Uncertain 5_70809169_A->G 5 70809169 70809169 A G snp 404.77 1/1 30 17 0 17 1.0 exonic rs1698063 BDP1 AU nonsynonymous SNV NM_018429 exon19 c.A4405G p.K1469E 0.399561 0.3621 0.429689 0.4265 0.3662 0.37 T 0.000 P -0.922 T 0.178 T 0.039 T Pathogenic 5_70811821_A->G 5 70811821 70811821 A G snp 693.77 1/1 51 21 0 21 1.0 intronic rs279322 BDP1 AU NM_018429 exon21 c.60183-66A>G 0.359425 0.3621 Uncertain 5_70818329_-->A 5 70818329 70818329 - A indel 77.73 0/1 99 35 10 25 0.71 intronic rs34331239 BDP1 AU NM_018429 exon23 c.66613+12insA 0.347843 0.3145 0.1496 0.1009 Uncertain 5_70818877_A->G 5 70818877 70818877 A G snp 176.9 1/1 15 5 0 5 1.0 intronic rs156753 BDP1 AU NM_018429 exon24 c.67072+101A>G 0.46885 0.379 Uncertain 5_70834703_A->C 5 70834703 70834703 A C snp 174.9 1/1 15 6 0 6 1.0 intronic rs276591 BDP1 AU NM_018429 exon27 c.83164-165A>C 0.439696 0.379 Uncertain 5_70834833_G->A 5 70834833 70834833 G A snp 1536.77 1/1 99 56 0 56 1.0 intronic rs276590 BDP1 AU NM_018429 exon27 c.83164-35G>A 0.439497 0.379 0.452466 0.4617 0.3767 Uncertain 5_70837295_A->C 5 70837295 70837295 A C snp 1020.77 1/1 75 40 0 40 1.0 exonic rs6453014 BDP1 AU nonsynonymous SNV NM_018429 exon29 c.A6037C p.I2013L 0.822684 0.8899 0.803775 0.8353 0.8877 1 T 0.0 P -1.030 T 0.0 T 0.0 T Pathogenic 5_70840233_C->T 5 70840233 70840233 C T snp 1805.77 1/1 99 71 0 71 1.0 exonic rs182190 BDP1 AU synonymous SNV NM_018429 exon31 c.C6462T p.L2154L 0.398962 0.3591 0.428186 0.4266 0.3658 Uncertain 5_70840433_A->G 5 70840433 70840433 A G snp 1012.77 1/1 75 33 0 33 1.0 intronic rs279290 BDP1 AU NM_018429 exon31 c.88630+99A>G 0.45627 0.379 Uncertain 5_70849021_G->T 5 70849021 70849021 G T snp 783.77 1/1 57 33 0 33 1.0 exonic rs469039 BDP1 AU synonymous SNV NM_018429 exon35 c.G7074T p.P2358P 0.432708 0.379 0.449974 0.4620 0.3796 0 D 0.000 P -0.923 T Likely benign 5_70852611_G->A 5 70852611 70852611 G A snp 144.03 1/1 12 6 0 6 1.0 intronic rs467620 BDP1 AU NM_018429 exon36 c.101008-101G>A 0.399561 0.3621 Uncertain 5_70862059_C->T 5 70862059 70862059 C T snp 126.03 1/1 12 4 0 4 1.0 UTR3 rs185733 BDP1 AU 0.432708 0.379 Uncertain 5_70922616_G->A 5 70922616 70922616 G A snp 1304.77 1/1 93 49 0 49 1.0 intronic rs12516456 MCCC2 AR NM_022132 exon7 c.39328+36G>A 0.813498 0.879 0.796832 0.8348 0.8803 Uncertain 5_70927856_G->A 5 70927856 70927856 G A snp 3713.77 1/1 99 123 0 123 1.0 intronic rs277980 MCCC2 AR NM_022132 exon8 c.44695-91G>A 0.395966 0.3244 Uncertain 5_70928083_C->T 5 70928083 70928083 C T snp 2876.77 1/1 99 92 0 92 1.0 intronic rs277981 MCCC2 AR NM_022132 exon8 c.44760+71C>T 0.390375 0.3244 Uncertain 5_70931883_G->A 5 70931883 70931883 G A snp 348.78 1/1 27 11 0 11 1.0 intronic rs1553314 MCCC2 AR NM_022132 exon10 c.47821+810G>A 0.726038 0.8631 0.7773 0.8361 Uncertain 5_70932002_G->A 5 70932002 70932002 G A snp 1487.77 1/1 99 61 0 61 1.0 intronic rs7444180 MCCC2 AR NM_022132 exon10 c.47821+929G>A 0.725639 0.8611 0.7817 0.8258 Uncertain 5_70932170_G->T 5 70932170 70932170 G T snp 101.28 1/1 9 4 0 4 1.0 intronic rs7444232 MCCC2 AR NM_022132 exon10 c.47821+1097G>T 1 1 Uncertain 5_70939437_G->A 5 70939437 70939437 G A snp 43.77 0/1 60 4 2 2 0.5 intronic rs7379830 MCCC2 AR NM_022132 exon12 c.56393-208G>A 0.751398 0.8899 Uncertain 5_70942336_G->A 5 70942336 70942336 G A snp 114.77 0/1 99 8 4 4 0.5 intronic rs6895748 MCCC2 AR NM_022132 exon13 c.58852+232G>A 0.103435 0.0863 Uncertain 5_70945075_A->G 5 70945075 70945075 A G snp 3086.77 1/1 99 111 0 111 1.0 exonic rs10064079 MCCC2 AR synonymous SNV NM_022132 exon14 c.A1368G p.A456A 0.851438 0.9802 0.813240 0.8781 0.9838 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000082093.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 5_70948385_T->G 5 70948385 70948385 T G snp 1967.77 1/1 99 67 0 67 1.0 intronic rs6888301 MCCC2 AR NM_022132 exon16 c.65243-110T>G 0.795128 0.9812 Uncertain 5_70948654_G->A 5 70948654 70948654 G A snp 1178.77 1/1 87 34 0 34 1.0 intronic rs2242372 MCCC2 AR NM_022132 exon16 c.65329+73G>A 0.814297 0.9802 Uncertain 5_70952506_A->G 5 70952506 70952506 A G snp 794.77 0/1 99 51 24 27 0.53 intronic rs7443786 MCCC2 AR NM_022132 exon17 c.69317-63A>G 0.714058 0.8938 Uncertain 5_71403273_T->C 5 71403273 71403273 T C snp 294.78 1/1 24 8 0 8 1.0 UTR5 rs3112401 MAP1B AU 0.529353 0.6329 Uncertain 5_71403306_T->A 5 71403306 71403306 T A snp 547.77 1/1 42 18 0 18 1.0 UTR5 rs3112402 MAP1B AU 0.92492 0.8849 Uncertain 5_71411306_C->T 5 71411306 71411306 C T snp 224.84 1/1 18 6 0 6 1.0 intronic rs1531311 MAP1B AU NM_005909 exon2 c.8166-218C>T 0.190096 0.3075 Uncertain 5_71489082_-->T 5 71489082 71489082 - T indel 2920.73 1/1 99 93 0 93 1.0 intronic rs34485863 MAP1B AU NM_005909 exon5 c.86334-610insT 0.711462 0.881 0.6118 0.915 Uncertain 5_71490962_A->G 5 71490962 71490962 A G snp 2954.77 1/1 99 109 0 109 1.0 exonic rs1866374 MAP1B AU nonsynonymous SNV NM_005909 exon5 c.A1780G p.I594V 0.903754 0.9623 0.868061 0.8401 0.9728 0.32 T 0.0 P -1.045 T 0.0 T 0.0 T Pathogenic 5_71495041_T->C 5 71495041 71495041 T C snp 1525.77 0/1 99 130 66 64 0.49 exonic rs3805452 MAP1B AU synonymous SNV NM_005909 exon5 c.T5859C p.G1953G 0.302117 0.5526 0.211518 0.2862 0.5695 Uncertain 5_71522125_A->T 5 71522125 71522125 A T snp 658.77 1/1 51 20 0 20 1.0 intronic rs9293821 MRPS27 AU NM_001286751 exon3 c.5291+99A>T 0.922125 0.9613 Uncertain 5_71524160_C->G 5 71524160 71524160 C G snp 2662.77 0/1 99 249 141 108 0.43 exonic rs78822243 MRPS27 AU nonsynonymous SNV NM_001286751 exon8 c.G459C p.L153F 0.00579073 0.0278 0.0024 0.0303 0.02 T 1 D -0.709 T 0.999 D 0.981 D Pathogenic 5_71618276_C->A 5 71618276 71618276 C A snp 38.77 0/1 67 5 3 2 0.4 intronic rs3749694 PTCD2 AU NM_024754 exon2 c.1882+185C>A 0.267772 0.3919 Uncertain 5_71739546_C->G 5 71739546 71739546 C G snp 1313.77 1/1 93 50 0 50 1.0 UTR3 rs4267851 ZNF366 AU 0.878594 0.9593 0.865281 0.8639 0.9649 Uncertain 5_71743024_G->C 5 71743024 71743024 G C snp 2356.77 1/1 99 85 0 85 1.0 intronic rs10043295 ZNF366 AU NM_152625 exon2 c.3487-45G>C 0.839058 0.9593 0.816008 0.8526 0.9648 Uncertain 5_71743322_G->A 5 71743322 71743322 G A snp 259.8 1/1 21 9 0 9 1.0 intronic rs10043368 ZNF366 AU NM_152625 exon2 c.3662+78G>A 0.540735 0.871 Uncertain 5_71756102_G->A 5 71756102 71756102 G A snp 1698.77 0/1 99 153 79 74 0.48 exonic rs7721922 ZNF366 AU synonymous SNV NM_152625 exon2 c.C1222T p.L408L 0.527556 0.8621 0.389205 0.4100 0.8534 Uncertain 5_72112421_T->C 5 72112421 72112421 T C snp 358.77 0/1 99 24 8 16 0.67 UTR5 rs34648 TNPO1 AU 0.871805 0.6726 Uncertain 5_72112430_C->G 5 72112430 72112430 C G snp 391.77 0/1 99 26 9 17 0.65 UTR5 rs34647 TNPO1 AU 0.843251 0.6726 Uncertain 5_72144005_C->T 5 72144005 72144005 C T snp 1047.77 1/1 78 29 0 29 1.0 UTR5 rs34651 TNPO1 AU 0.922324 0.8641 Uncertain 5_72144209_C->T 5 72144209 72144209 C T snp 3010.77 0/1 99 248 129 119 0.48 splicing rs34652 TNPO1 AU NM_002270 exon2 c.31647-2C>T 0.169329 0.3909 0.134169 0.1444 0.3822 Pathogenic 5_72147269_A->G 5 72147269 72147269 A G snp 2392.77 1/1 99 88 0 88 1.0 intronic rs34655 TNPO1 AU NM_002270 exon3 c.34582+123A>G 0.801118 0.8571 Uncertain 5_72151807_G->A 5 72151807 72151807 G A snp 412.77 0/1 99 64 41 23 0.36 intronic rs41271135 TNPO1 AU NM_002270 exon4 c.39186+57G>A 0.0994409 0.0952 Uncertain 5_72151858_T->A 5 72151858 72151858 T A snp 976.77 1/1 72 32 0 32 1.0 intronic rs34660 TNPO1 AU NM_002270 exon4 c.39186+108T>A 0.803115 0.8571 Uncertain 5_72157882_T->C 5 72157882 72157882 T C snp 131.77 0/1 99 22 16 6 0.27 intronic rs3213807 TNPO1 AU NM_002270 exon5 c.45177+141T>C 0.00139776 0.0069 Uncertain 5_72174432_C->G 5 72174432 72174432 C G snp 1732.77 1/1 99 72 0 72 1.0 ncRNA_exonic rs266435 MIR4804 AU 0.80012 0.8562 0.8696 0.875 Uncertain 5_72174553_G->A 5 72174553 72174553 G A snp 134.03 1/1 12 4 0 4 1.0 intronic rs266436 TNPO1 AU NM_002270 exon9 c.60609+1380G>A 0.803115 0.8562 Uncertain 5_72183850_A->G 5 72183850 72183850 A G snp 246.77 0/1 99 32 22 10 0.31 intronic rs7720717 TNPO1 AU NM_002270 exon13 c.71340-54A>G 0.173123 0.0952 Uncertain 5_72184098_C->T 5 72184098 72184098 C T snp 2608.77 1/1 99 105 0 105 1.0 exonic rs17606 TNPO1 AU synonymous SNV NM_002270 exon13 c.C1497T p.D499D 0.804513 0.8562 0.819468 0.8318 0.8460 Uncertain 5_72252034_-->GGC 5 72252034 72252034 - GGC indel 3754.73 0/1 99 221 90 131 0.59 intronic rs140511986 FCHO2 AU NM_001146032 exon1 c.33+78insGGC 0.154952 0.3829 Uncertain 5_72347090_A->T 5 72347090 72347090 A T snp 926.77 1/1 66 37 0 37 1.0 intronic rs7712673 FCHO2 AU NM_001146032 exon11 c.95252-85A>T Uncertain 5_72347223_A->G 5 72347223 72347223 A G snp 822.77 1/1 60 32 1 31 0.97 exonic rs7712838 FCHO2 AU synonymous SNV NM_001146032 exon11 c.A888G p.T296T 0.302117 0.4782 0.270197 0.2787 0.4804 Uncertain 5_72350290_A->T 5 72350290 72350290 A T snp 201.77 0/1 99 19 9 10 0.53 intronic rs62362200 FCHO2 AU NM_001146032 exon14 c.98428-61A>T 0.167931 0.3879 0.135582 Uncertain 5_72351062_C->G 5 72351062 72351062 C G snp 50.74 1/1 6 2 0 2 1.0 intronic rs1200503 FCHO2 AU NM_001146032 exon14 c.98453+686C>G 0.561901 0.6478 Uncertain 5_72351905_A->G 5 72351905 72351905 A G snp 137.77 0/1 99 18 11 7 0.39 exonic rs57213367 FCHO2 AU synonymous SNV NM_001146032 exon15 c.A1125G p.T375T 0.138379 0.3879 0.088834 0.1074 0.3969 Uncertain 5_72370745_C->T 5 72370745 72370745 C T snp 345.77 0/1 99 51 35 16 0.31 intronic rs7732230 FCHO2 AU NM_001146032 exon19 c.118757+65C>T 0.167931 0.3879 Uncertain 5_72373275_T->C 5 72373275 72373275 T C snp 1236.77 0/1 99 101 47 54 0.53 exonic rs772950015 FCHO2 AU nonsynonymous SNV NM_001146032 exon20 c.T1703C p.I568T 1.76e-05 0.0002 0.76 T 0.805 D -1.055 T 0.0 T 0.001 T Pathogenic 5_72419410_A->G 5 72419410 72419410 A G snp 5027.77 1/1 99 178 0 178 1.0 exonic rs7731777 TMEM171 AU synonymous SNV NM_001161342 exon2 c.A210G p.G70G 0.9998 1 0.999692 0.9997 1 Uncertain 5_72419456_C->G 5 72419456 72419456 C G snp 1379.77 0/1 99 194 137 57 0.29 exonic rs637450 TMEM171 AU nonsynonymous SNV NM_001161342 exon2 c.C256G p.R86G 0.438299 0.5933 0.331462 0.3196 0.5945 0.08 T 0.0 P -0.932 T 0.462 P 0.151 P Pathogenic 5_72419617_C->A 5 72419617 72419617 C A snp 2817.77 0/1 99 230 101 129 0.56 exonic rs636926 TMEM171 AU nonsynonymous SNV NM_001161342 exon2 c.C417A p.N139K 0.448283 0.5942 0.343149 0.3235 0.5970 0.2 T 0.000 P -0.956 T 0.02 T 0.023 T Pathogenic 5_72742882_T->C 5 72742882 72742882 T C snp 555.77 0/1 99 61 32 29 0.48 exonic rs2972191 FOXD1 AU unknown 0.28774 0.2639 0.256726 0.4139 0.2294 Uncertain 5_72798503_TT->- 5 72798503 72798504 TT - indel 1205.73 1/1 99 44 0 44 1.0 intronic BTF3 AU NM_001207 exon3 c.3468+77_3468+78delTT Uncertain 5_72798724_T->G 5 72798724 72798724 T G snp 71.77 0/1 99 8 5 3 0.38 intronic rs347233 BTF3 AU NM_001207 exon4 c.3782-16T>G 0.291334 0.2619 0.304293 0.4077 0.2733 Uncertain 5_72800408_G->C 5 72800408 72800408 G C snp 895.77 1/1 66 28 0 28 1.0 intronic rs703882 BTF3 AU NM_001207 exon5 c.5270+180G>C 0.49361 0.4464 Uncertain 5_72800863_-->T 5 72800863 72800863 - T indel 109.75 0/1 23 15 4 11 0.73 intronic rs397738409 BTF3 AU NM_001207 exon6 c.6058-153insT 0.573083 0.6012 Uncertain 5_72850282_A->G 5 72850282 72850282 A G snp 1114.77 1/1 81 36 0 36 1.0 intronic rs343104 ANKRA2 AU NM_023039 exon3 c.1592+69A>G 0.685104 0.8452 0.620894 Uncertain 5_72851535_A->T 5 72851535 72851535 A T snp 99.28 1/1 9 3 0 3 1.0 intronic rs819584 ANKRA2 AU NM_023039 exon5 c.2789+125A>T 0.715056 0.8442 Uncertain 5_72861455_C->T 5 72861455 72861455 C T snp 624.77 1/1 48 18 0 18 1.0 UTR5 rs2112159 ANKRA2 AU 0.115615 0.123 Uncertain 5_72865307_C->T 5 72865307 72865307 C T snp 291.78 1/1 24 9 0 9 1.0 intronic rs347234 UTP15 AU NM_032175 exon5 c.2152-14C>T 0.324081 0.1776 0.365580 0.2815 0.1938 Uncertain 5_72868447_T->C 5 72868447 72868447 T C snp 3255.77 1/1 99 115 0 115 1.0 exonic rs16870610 UTP15 AU synonymous SNV NM_001284431 exon6 c.T237C p.D79D 0.0660942 0.12 0.044133 0.0558 0.1490 1 D -1.102 T Likely benign 5_72868546_A->G 5 72868546 72868546 A G snp 402.77 1/1 33 12 0 12 1.0 intronic rs1220634 UTP15 AU NM_032175 exon7 c.5280+97A>G 0.324681 0.1776 Uncertain 5_72872766_C->T 5 72872766 72872766 C T snp 1261.77 1/1 90 39 0 39 1.0 intronic rs1220622 UTP15 AU NM_032175 exon8 c.9607-10C>T 0.767173 0.8442 0.685914 0.7321 0.8343 Uncertain 5_72876035_G->A 5 72876035 72876035 G A snp 387.77 1/1 30 10 0 10 1.0 UTR3 rs343120 UTP15 AU 0.310503 0.1786 Uncertain 5_72980869_G->C 5 72980869 72980869 G C snp 1441.77 1/1 99 50 0 50 1.0 intronic rs10755296 ARHGEF28 AU NM_001177693 exon2 c.33+160G>C 0.733227 0.8204 Uncertain 5_73076511_C->A 5 73076511 73076511 C A snp 548.77 0/1 99 47 22 25 0.53 exonic rs6453022 ARHGEF28 AU nonsynonymous SNV NM_001080479 exon7 c.C851A p.P284Q 0.577875 0.5129 0.569548 0.5480 0.5528 0.64 T 0.0 P -1.039 T 0.0 T 0.0 T Pathogenic 5_73090165_-->GTT 5 73090165 73090165 - GTT indel 3475.73 0/1 99 152 70 82 0.54 intronic rs10683146 ARHGEF28 AU NM_001177693 exon8 c.109550-61insGTT 0.614617 0.5337 0.599754 Uncertain 5_73090261_T->C 5 73090261 73090261 T C snp 1360.77 0/1 99 93 35 58 0.62 exonic rs7716253 ARHGEF28 AU synonymous SNV NM_001080479 exon8 c.T945C p.A315A 0.613419 0.5327 0.603908 0.6060 0.5815 Uncertain 5_73090370_-->A 5 73090370 73090370 - A indel 120.73 0/1 99 14 6 8 0.57 intronic rs144455294 ARHGEF28 AU NM_001177693 exon8 c.109603+91insA 0.165535 0.1875 Uncertain 5_73091149_C->T 5 73091149 73091149 C T snp 821.77 0/1 99 76 44 32 0.42 intronic rs73118524 ARHGEF28 AU NM_001177693 exon9 c.110479-6C>T 0.263578 0.254 0.176073 0.1241 0.2521 Uncertain 5_73142380_A->G 5 73142380 73142380 A G snp 188.77 0/1 99 12 5 7 0.58 intronic rs13161779 ARHGEF28 AU NM_001177693 exon12 c.161624+80A>G 0.148962 0.244 Uncertain 5_73144845_A->G 5 73144845 73144845 A G snp 1830.77 0/1 99 166 89 77 0.46 exonic rs2973568 ARHGEF28 AU synonymous SNV NM_001080479 exon13 c.A1680G p.S560S 0.676318 0.5109 0.670328 0.6514 0.6068 Uncertain 5_73160730_G->A 5 73160730 73160730 G A snp 1901.77 0/1 99 176 92 84 0.48 intronic rs1014550 ARHGEF28 AU NM_001177693 exon17 c.180021+33G>A 0.703874 0.5813 0.691225 0.6285 0.6026 Uncertain 5_73163861_C->T 5 73163861 73163861 C T snp 1738.77 1/1 99 61 0 61 1.0 intronic rs2931422 ARHGEF28 AU NM_001177693 exon19 c.183169+16C>T 1 1 1 1 Uncertain 5_73178550_T->G 5 73178550 73178550 T G snp 122.77 0/1 60 7 2 5 0.71 intronic rs2973528 ARHGEF28 AU NM_001177693 exon23 c.197743+131T>G 0.565296 0.4792 Uncertain 5_73190119_T->A 5 73190119 73190119 T A snp 588.77 1/1 45 18 0 18 1.0 intronic rs2973530 ARHGEF28 AU NM_001177693 exon29 c.209541-98T>A 0.637979 0.626 Uncertain 5_73190174_A->G 5 73190174 73190174 A G snp 976.77 0/1 99 83 42 41 0.49 intronic rs34729826 ARHGEF28 AU NM_001177693 exon29 c.209541-43A>G 0.215056 0.3333 0.165781 0.1895 0.3847 Uncertain 5_73218954_C->T 5 73218954 73218954 C T snp 2184.77 0/1 99 220 125 95 0.43 exonic rs423333 ARHGEF28 AU nonsynonymous SNV NM_001080479 exon36 c.C4991T p.P1664L 0.322484 0.1319 0.2586 0.1364 0.31 T 0.0 P -0.908 T 0.0 T 0.0 T Pathogenic 5_73219109_-->AA 5 73219109 73219109 - AA indel 182.73 0/1 99 30 15 15 0.5 intronic rs544658542 ARHGEF28 AU NM_001080479 exon36 c.238313+120insAA 0.0662939 0.0506 Uncertain 5_73339114_C->T 5 73339114 73339114 C T snp 2252.77 0/1 99 186 95 91 0.49 intergenic rs285599 ARHGEF28 AU 0.515176 0.6042 0.399372 0.3970 0.6183 Uncertain 5_73930442_C->T 5 73930442 73930442 C T snp 796.77 1/1 60 26 0 26 1.0 intronic rs300240 ENC1 AU 0.617812 0.6181 Uncertain 5_73930751_C->T 5 73930751 73930751 C T snp 5724.77 1/1 99 198 0 198 1.0 exonic rs300239 ENC1 AU synonymous SNV NM_001256576 exon2 c.G1341A p.K447K 0.617812 0.6181 0.618868 0.6427 0.6544 Uncertain 5_73931246_T->C 5 73931246 73931246 T C snp 6950.77 1/1 99 250 1 249 1.0 exonic rs442425 ENC1 AU synonymous SNV NM_001256576 exon2 c.A846G p.S282S 0.754792 0.623 0.795940 0.7583 0.6580 Uncertain 5_73932315_T->C 5 73932315 73932315 T C snp 1089.77 1/1 78 37 0 37 1.0 UTR5 rs9176 ENC1 AU 0.630791 0.6726 0.618253 0.6589 0.7086 Uncertain 5_73981270_T->C 5 73981270 73981270 T C snp 7883.77 1/1 99 250 0 250 1.0 exonic rs820878 HEXB AR nonsynonymous SNV NM_000521 exon1 c.T185C p.L62S 0.98143 1 0.969342 0.9708 0.9999 1 T 0.000 P -0.909 T CLINSIG=pathogenic,non-pathogenic;CLNDBN=Sandhoff_disease\x2c_infantile_type,not_specified;CLNREVSTAT=no_assertion_criteria_provided,no_assertion_criteria_provided;CLNACC=RCV000004086.1,RCV000153357.2;CLNDSDB=MedGen,MedGen;CLNDSDBID=C1849322,CN169374 ID=CM952225;DIS=Sandhoff disease;TAG=DM?;PUB=7633435 DM? Pathogenic 5_73985121_C->T 5 73985121 73985121 C T snp 782.77 0/1 99 56 26 30 0.54 intronic rs35711978 HEXB AR NM_000521 exon2 c.4067-31C>T 0.249601 0.1667 0.222897 0.2056 0.1577 Uncertain 5_73985215_A->G 5 73985215 73985215 A G snp 2799.77 0/1 99 222 96 126 0.57 exonic rs11556045 HEXB AR nonsynonymous SNV NM_000521 exon2 c.A362G p.K121R 0.222644 0.1667 0.199370 0.1988 0.1579 0.63 T 0.0 P -0.903 T 0.0 T 0.001 T CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=HEXB_POLYMORPHISM|not_specified;CLNREVSTAT=no_assertion_criteria_provided|criteria_provided\x2c_single_submitter;CLNACC=RCV000004078.1|RCV000079063.3;CLNDSDB=.|MedGen;CLNDSDBID=.|CN169374 Pathogenic 5_73992406_T->G 5 73992406 73992406 T G snp 259.8 1/1 21 8 0 8 1.0 intronic rs1696979 HEXB AR NM_000521 exon4 c.11432-111T>G 0.492212 0.5169 Uncertain 5_73992609_G->A 5 73992609 73992609 G A snp 1449.77 1/1 99 49 0 49 1.0 intronic rs1665894 HEXB AR NM_000521 exon4 c.11479+45G>A 0.853435 0.8552 0.900460 0.8918 0.8564 Uncertain 5_74055122_T->A 5 74055122 74055122 T A snp 545.77 0/1 99 66 40 26 0.39 intronic rs142164437 GFM2 AU NM_032380 exon18 c.37714-71T>A 0.00399361 0.0179 Uncertain 5_74646255_T->A 5 74646255 74646255 T A snp 291.77 0/1 99 43 30 13 0.3 intronic rs2241402 HMGCR AU NM_000859 exon8 c.7769+56T>A 0.0680911 0.1538 Uncertain 5_74651084_A->G 5 74651084 74651084 A G snp 1041.77 0/1 99 107 61 46 0.43 intronic rs3846662 HMGCR AU NM_000859 exon13 c.12609+45A>G 0.625 0.5099 0.580809 0.5121 0.5337 ID=CS083943;DIS=Altered splicing;TAG=DFP;PUB=18559695 DFP Uncertain 5_74655451_C->T 5 74655451 74655451 C T snp 67.77 0/1 96 11 7 4 0.36 intronic rs2303151 HMGCR AU NM_000859 exon18 c.16951+70C>T 0.0682907 0.1538 Uncertain 5_74655726_C->T 5 74655726 74655726 C T snp 774.77 0/1 99 63 33 30 0.48 intronic rs3846663 HMGCR AU NM_000859 exon19 c.17379-83C>T 0.405751 0.5099 Uncertain 5_74877803_T->C 5 74877803 74877803 T C snp 251.77 0/1 99 21 11 10 0.48 intronic rs5744672 POLK AU NM_016218 exon7 c.34426+530T>C 0.610224 0.5099 Uncertain 5_74951901_G->A 5 74951901 74951901 G A snp 4207.77 1/1 99 156 0 156 1.0 exonic rs7717355 ANKDD1B AU synonymous SNV NM_001276713 exon9 c.G945A p.T315T 0.155751 0.2708 0.1424 0.2892 -1.016 T Likely benign 5_74954901_-->G 5 74954901 74954901 - G indel 553.73 1/1 39 13 0 13 1.0 intronic rs5868779 ANKDD1B AU NM_001276713 exon10 c.47648-206insG 0.849641 0.7917 Uncertain 5_74962469_AT->- 5 74962469 74962470 AT - indel 189.8 1/1 18 6 0 6 1.0 intronic ANKDD1B AU NM_001276713 exon12 c.55157-147_55157-146delAT Uncertain 5_74962768_C->T 5 74962768 74962768 C T snp 3108.77 1/1 99 97 0 97 1.0 exonic rs6453139 ANKDD1B AU nonsynonymous SNV NM_001276713 exon12 c.C1343T p.S448L 0.0990415 0.248 0.0840 0.3 Pathogenic 5_74980892_C->T 5 74980892 74980892 C T snp 176.9 1/1 15 5 0 5 1.0 intronic rs10474443 POC5 AU NM_001099271 exon3 c.10772-139C>T 0.104034 0.2649 Uncertain 5_74986481_T->C 5 74986481 74986481 T C snp 770.77 1/1 57 21 0 21 1.0 intronic rs4704230 POC5 AU NM_001099271 exon5 c.16128+94T>C 0.475839 0.5139 Uncertain 5_74988369_A->G 5 74988369 74988369 A G snp 2396.77 1/1 99 84 0 84 1.0 intronic rs888789 POC5 AU NM_001099271 exon6 c.18066+44A>G 0.509585 0.5119 0.477689 0.4836 0.5359 Uncertain 5_75001582_A->G 5 75001582 75001582 A G snp 1460.77 1/1 99 57 0 57 1.0 exonic rs17672542 POC5 AU nonsynonymous SNV NM_001099271 exon4 c.T254C p.I85T 0.186102 0.3234 0.098389 0.2041 0.4844 0.31 T 0.000 P -0.914 T 0.0 T 0.001 T Pathogenic 5_75003678_T->C 5 75003678 75003678 T C snp 4336.77 1/1 99 174 0 174 1.0 exonic rs2307111 POC5 AU nonsynonymous SNV NM_001099271 exon3 c.A107G p.H36R 0.615615 0.5347 0.544373 0.5567 0.6157 1 T 1.0 P -0.972 T 0.0 T 0.0 T Pathogenic 5_75470086_T->C 5 75470086 75470086 T C snp 2028.77 1/1 99 62 0 62 1.0 intronic rs10805899 SV2C AU NM_001297716 exon3 c.63168-20657T>C 0.776957 0.9058 Uncertain 5_75597494_A->G 5 75597494 75597494 A G snp 40.77 0/1 69 7 4 3 0.43 intronic rs246816 SV2C AU NM_001297716 exon12 c.169795+124A>G 0.511182 0.6032 Uncertain 5_75858215_C->T 5 75858215 75858215 C T snp 619.77 0/1 99 74 45 29 0.39 splicing rs58087114 IQGAP2 AU NM_006633 exon3 c.158850-5C>T 0.149561 0.4048 0.046217 0.0939 0.4047 Pathogenic 5_75884734_G->A 5 75884734 75884734 G A snp 1876.77 1/1 99 76 0 76 1.0 exonic rs1131232 IQGAP2 AU synonymous SNV NM_006633 exon6 c.G462A p.L154L 0.696086 0.751 0.553283 0.5752 0.7356 Uncertain 5_75885330_A->G 5 75885330 75885330 A G snp 201.8 0/1 21 7 1 6 0.86 intronic rs4704340 IQGAP2 AU NM_006633 exon7 c.186069-109A>G 0.169129 0.4127 Uncertain 5_75885659_A->G 5 75885659 75885659 A G snp 274.77 0/1 99 24 13 11 0.46 intronic rs74804398 IQGAP2 AU NM_006633 exon7 c.186183+106A>G 0.0081869 0.0377 Uncertain 5_75886149_T->C 5 75886149 75886149 T C snp 290.77 0/1 99 17 8 9 0.53 intronic rs2270908 IQGAP2 AU NM_006633 exon8 c.186862-83T>C 0.142173 0.4315 Uncertain 5_75886168_A->G 5 75886168 75886168 A G snp 256.77 0/1 99 28 16 12 0.43 intronic rs2270907 IQGAP2 AU NM_006633 exon8 c.186862-64A>G 0.521765 0.3224 Uncertain 5_75888788_G->A 5 75888788 75888788 G A snp 492.77 0/1 99 49 25 24 0.49 intronic rs3736394 IQGAP2 AU NM_006633 exon9 c.189380+38G>A 0.597244 0.4871 0.498154 0.5177 0.4691 Uncertain 5_75904811_C->G 5 75904811 75904811 C G snp 296.77 0/1 99 48 35 13 0.27 intronic rs3822529 IQGAP2 AU NM_006633 exon13 c.207474-2033C>G 0.637979 0.5 Uncertain 5_75907065_A->G 5 75907065 75907065 A G snp 766.77 0/1 99 52 26 26 0.5 intronic rs3797390 IQGAP2 AU NM_006633 exon13 c.207638+57A>G 0.397564 0.498 Uncertain 5_75913784_T->C 5 75913784 75913784 T C snp 1674.77 0/1 99 130 60 70 0.54 exonic rs2069683 F2RL2 AU nonsynonymous SNV NM_001256566 exon2 c.A682G p.N228D 0.0457268 0.0813 0.030063 0.0257 0.0918 0.91 T 0.0 P -1.013 T 0.002 T 0.003 T Pathogenic 5_75923141_G->A 5 75923141 75923141 G A snp 1516.77 1/1 99 54 0 54 1.0 intronic rs2455221 IQGAP2 AU NM_006633 exon14 c.223864-93G>A 0.542133 0.4683 Uncertain 5_75923285_C->T 5 75923285 75923285 C T snp 5000.77 1/1 99 185 0 185 1.0 exonic rs2431351 IQGAP2 AU synonymous SNV NM_006633 exon14 c.C1572T p.A524A 0.542732 0.4712 0.563740 0.5529 0.4838 Uncertain 5_75923294_T->G 5 75923294 75923294 T G snp 4995.77 1/1 99 184 0 184 1.0 exonic rs2431352 IQGAP2 AU nonsynonymous SNV NM_006633 exon14 c.T1581G p.D527E 0.902356 0.8641 0.945333 0.9132 0.8848 1 T 0.000 P -0.964 T 0.0 T 0.001 T Pathogenic 5_75923307_A->G 5 75923307 75923307 A G snp 5019.77 1/1 99 177 0 177 1.0 exonic rs2909888 IQGAP2 AU nonsynonymous SNV NM_006633 exon14 c.A1594G p.K532E 0.999401 1 0.999616 0.9998 1 0.69 T 0.0 P -0.995 T 0.0 T 0.001 T Pathogenic 5_75923393_T->C 5 75923393 75923393 T C snp 3739.77 1/1 99 137 0 137 1.0 intronic rs2431353 IQGAP2 AU NM_006633 exon14 c.223955+68T>C 0.542732 0.4712 Uncertain 5_75923459_G->A 5 75923459 75923459 G A snp 1766.77 1/1 99 53 0 53 1.0 intronic rs2455222 IQGAP2 AU NM_006633 exon14 c.223955+134G>A 0.542931 0.4712 Uncertain 5_75923494_C->T 5 75923494 75923494 C T snp 734.77 1/1 54 21 0 21 1.0 intronic rs2431354 IQGAP2 AU NM_006633 exon14 c.223955+169C>T 0.542931 0.4712 Uncertain 5_75924472_A->G 5 75924472 75924472 A G snp 6507.77 1/1 99 250 0 250 1.0 intronic rs2455225 IQGAP2 AU NM_006633 exon14 c.223955+1147A>G 0.549121 0.4702 0.5970 0.5 Uncertain 5_75927595_C->G 5 75927595 75927595 C G snp 1023.77 1/1 78 28 0 28 1.0 intronic rs431160 IQGAP2 AU NM_006633 exon15 c.228313-88C>G 0.557109 0.4683 Uncertain 5_75927938_A->T 5 75927938 75927938 A T snp 895.77 1/1 66 24 0 24 1.0 intronic rs441157 IQGAP2 AU NM_006633 exon15 c.228481+87A>T 0.556909 0.4673 Uncertain 5_75932869_C->T 5 75932869 75932869 C T snp 4487.77 1/1 99 151 2 149 0.99 exonic rs2910819 IQGAP2 AU synonymous SNV NM_006633 exon16 c.C1791T p.D597D 0.550519 0.4722 0.576734 0.5625 0.4857 0.02 T 1.000 P -0.934 T Likely benign 5_75932965_G->C 5 75932965 75932965 G C snp 6568.77 1/1 99 250 4 246 0.98 exonic rs2455230 IQGAP2 AU nonsynonymous SNV NM_006633 exon16 c.G1887C p.L629F 0.553315 0.4722 0.579425 0.5627 0.4862 0.56 T 0.0 P -0.909 T 0.071 T 0.213 T Pathogenic 5_75933097_C->T 5 75933097 75933097 C T snp 1655.77 1/1 84 49 1 48 0.98 intronic rs2937415 IQGAP2 AU NM_006633 exon16 c.233631+96C>T 0.556909 0.4722 Uncertain 5_75936944_G->A 5 75936944 75936944 G A snp 2560.77 1/1 99 90 0 90 1.0 intronic rs457821 IQGAP2 AU NM_006633 exon17 c.237558+16G>A 0.640176 0.6339 0.613717 0.6400 0.6553 Uncertain 5_75937052_A->T 5 75937052 75937052 A T snp 167.9 1/1 15 5 0 5 1.0 intronic rs590674 IQGAP2 AU NM_006633 exon17 c.237558+124A>T 0.636781 0.6339 Uncertain 5_75948474_T->C 5 75948474 75948474 T C snp 1550.77 0/1 99 138 71 67 0.49 intronic rs2252231 IQGAP2 AU NM_006633 exon18 c.249204-100T>C 0.41853 0.2163 Uncertain 5_75948650_A->G 5 75948650 75948650 A G snp 2673.77 0/1 99 222 109 113 0.51 exonic rs2431363 IQGAP2 AU nonsynonymous SNV NM_006633 exon18 c.A2170G p.I724V 0.40655 0.2163 0.507227 0.4874 0.2347 1 T 0.000 P -0.916 T 0.001 T 0.012 T Pathogenic 5_75948685_G->A 5 75948685 75948685 G A snp 2512.77 0/1 99 195 89 106 0.54 intronic rs2431362 IQGAP2 AU NM_006633 exon18 c.249288+27G>A 0.40655 0.2163 0.507074 0.4875 0.2350 Uncertain 5_75948799_T->C 5 75948799 75948799 T C snp 379.77 0/1 99 35 22 13 0.37 intronic rs2455215 IQGAP2 AU NM_006633 exon18 c.249288+141T>C 0.41853 0.2163 Uncertain 5_75950193_A->G 5 75950193 75950193 A G snp 152.77 0/1 99 11 5 6 0.55 intronic rs462307 IQGAP2 AU NM_006633 exon19 c.250726+97A>G 0.639377 0.4435 Uncertain 5_75950707_G->A 5 75950707 75950707 G A snp 596.77 0/1 99 39 17 22 0.56 intronic rs465731 IQGAP2 AU NM_006633 exon20 c.251388-51G>A 0.628395 0.4435 0.632524 Uncertain 5_75950997_G->A 5 75950997 75950997 G A snp 789.77 0/1 99 64 36 28 0.44 intronic rs459846 IQGAP2 AU NM_006633 exon20 c.251458+169G>A 0.628395 0.4435 Uncertain 5_75960818_-->A 5 75960818 75960818 - A indel 507.73 1/1 48 16 0 16 1.0 intronic rs11449450 IQGAP2 AU NM_006633 exon22 c.261480-32insA 0.633312 0.6144 0.4019 Uncertain 5_75960825_G->C 5 75960825 75960825 G C snp 675.77 1/1 51 20 0 20 1.0 intronic rs253092 IQGAP2 AU NM_006633 exon22 c.261480-25G>C 0.311701 0.5655 0.843510 0.8674 0.9116 Uncertain 5_75960865_T->C 5 75960865 75960865 T C snp 1270.77 1/1 93 41 0 41 1.0 exonic rs253093 IQGAP2 AU synonymous SNV NM_006633 exon22 c.T2544C p.H848H 0.963259 0.9236 0.984699 0.9842 0.9169 Uncertain 5_75964686_G->A 5 75964686 75964686 G A snp 106.77 0/1 99 16 10 6 0.38 intronic rs186722881 IQGAP2 AU NM_006633 exon23 c.265299+17G>A 0.000998403 0.005 0.0004 0.0052 Uncertain 5_75970219_A->C 5 75970219 75970219 A C snp 554.77 1/1 42 21 0 21 1.0 intronic rs2287933 IQGAP2 AU NM_006633 exon27 c.270931-82A>C 0.0650958 0.1081 Uncertain 5_75996775_A->G 5 75996775 75996775 A G snp 248.8 1/1 21 7 0 7 1.0 intronic rs12054935 IQGAP2 AU NM_006633 exon34 c.297530-125A>G 0.284145 0.2837 Uncertain 5_75996837_C->T 5 75996837 75996837 C T snp 804.77 1/1 60 25 0 25 1.0 intronic rs10942789 IQGAP2 AU NM_006633 exon34 c.297530-63C>T 0.283946 0.2837 Uncertain 5_75997063_A->G 5 75997063 75997063 A G snp 3648.77 1/1 99 136 0 136 1.0 intronic rs2307124 IQGAP2 AU NM_006633 exon34 c.297668+25A>G 0.284345 0.2837 0.332385 0.3092 0.3075 Uncertain 5_75997069_C->T 5 75997069 75997069 C T snp 3399.77 1/1 99 131 0 131 1.0 intronic rs2307123 IQGAP2 AU NM_006633 exon34 c.297668+31C>T 0.275759 0.2837 0.321313 0.3059 0.3075 Uncertain 5_75997213_A->G 5 75997213 75997213 A G snp 96.28 1/1 9 3 0 3 1.0 intronic rs10063791 IQGAP2 AU NM_006633 exon34 c.297668+175A>G 0.345847 0.3115 Uncertain 5_75998488_T->G 5 75998488 75998488 T G snp 3148.77 1/1 99 118 0 118 1.0 intronic rs3816909 IQGAP2 AU NM_006633 exon35 c.299045+73T>G 0.282947 0.2837 Uncertain 5_75998602_G->A 5 75998602 75998602 G A snp 483.77 1/1 36 14 0 14 1.0 intronic rs10942790 IQGAP2 AU NM_006633 exon35 c.299045+187G>A 0.282947 0.2837 Uncertain 5_76002914_C->T 5 76002914 76002914 C T snp 164.9 1/1 15 5 0 5 1.0 intronic rs7717826 IQGAP2 AU NM_006633 exon36 c.303654-110C>T 0.615216 0.3562 Uncertain 5_76003254_A->T 5 76003254 76003254 A T snp 449.77 1/1 33 18 0 18 1.0 UTR3 rs463188 IQGAP2 AU 0.761182 0.745 Uncertain 5_76114963_C->T 5 76114963 76114963 C T snp 370.77 0/1 99 32 14 18 0.56 UTR5 rs1529505 F2RL1 AU 0.589457 0.2222 0.710588 0.6365 0.2737 Uncertain 5_76128521_G->A 5 76128521 76128521 G A snp 4369.77 1/1 99 150 0 150 1.0 exonic rs616235 F2RL1 AU nonsynonymous SNV NM_005242 exon2 c.G89A p.S30N 0.965455 0.8333 0.999308 0.9869 0.8259 1 T 0.0 P -0.922 T Pathogenic 5_76129053_T->C 5 76129053 76129053 T C snp 3874.77 1/1 99 124 1 123 0.99 exonic rs631465 F2RL1 AU synonymous SNV NM_005242 exon2 c.T621C p.I207I 0.881989 0.5317 0.965708 0.9225 0.5168 ID=CM1111020;DIS=Atopy, association with;TAG=DP;PUB=21839502 DP Uncertain 5_76171252_A->C 5 76171252 76171252 A C snp 952.77 0/1 99 70 29 41 0.59 exonic rs1320308 S100Z AU nonsynonymous SNV NM_130772 exon3 c.A68C p.E23A 0.552716 0.5615 0.642261 0.6166 0.5687 0.08 T 1.000 P -1.003 T 1.0 D 0.986 D Pathogenic 5_76173727_G->C 5 76173727 76173727 G C snp 116.77 0/1 99 8 4 4 0.5 intronic rs1320307 S100Z AU NM_130772 exon4 c.2475+68G>C 0.595048 0.6637 Uncertain 5_76249536_C->G 5 76249536 76249536 C G snp 1214.77 0/1 99 100 59 41 0.41 intronic rs1715771 CRHBP AU NM_001882 exon2 c.560+17C>G 0.415535 0.4821 0.349844 0.5482 0.5441 Uncertain 5_76259011_A->G 5 76259011 76259011 A G snp 245.8 1/1 21 8 0 8 1.0 intronic rs41272248 CRHBP AU NM_001882 exon6 c.10208-156A>G 0.153355 0.1954 Uncertain 5_76259350_T->C 5 76259350 76259350 T C snp 771.77 1/1 57 26 0 26 1.0 intronic rs7728378 CRHBP AU NM_001882 exon6 c.10326+65T>C 0.546326 0.5347 Uncertain 5_76326885_G->A 5 76326885 76326885 G A snp 315.77 0/1 99 35 21 14 0.4 intronic rs2278241 AGGF1 AU NM_018046 exon1 c.210+84G>A 0.196086 0.254 Uncertain 5_76335623_A->C 5 76335623 76335623 A C snp 211.77 0/1 99 14 7 7 0.5 intronic rs35359101 AGGF1 AU NM_018046 exon5 c.8953+79A>C Uncertain 5_76359024_C->A 5 76359024 76359024 C A snp 868.77 0/1 99 83 39 44 0.53 exonic rs34400049 AGGF1 AU nonsynonymous SNV NM_018046 exon14 c.C2092A p.P698T 0.205072 0.2728 0.225973 0.2491 0.2650 1 T 0.869 P -0.987 T 0.22 T 0.024 T Pathogenic 5_76373240_A->G 5 76373240 76373240 A G snp 230.77 0/1 99 16 7 9 0.56 exonic rs2303713 ZBED3 AU nonsynonymous SNV NM_032367 exon3 c.T464C p.L155P 0.238019 0.2798 0.2812 0.1667 0.16 T 0.0 P -0.950 T 0.001 T 0.0 T Pathogenic 5_76373241_G->C 5 76373241 76373241 G C snp 189.77 0/1 99 15 7 8 0.53 exonic rs2303714 ZBED3 AU nonsynonymous SNV NM_032367 exon3 c.C463G p.L155V 0.238219 0.2798 0.2801 0.1667 0.2 T 0.0 P -0.955 T 0.0 T 0.0 T Pathogenic 5_76607627_-->T 5 76607627 76607627 - T indel 388.73 0/1 99 43 24 19 0.44 intronic rs11413850 PDE8B AU,AD NM_003719 exon2 c.101068-191insT 0.696286 0.873 Uncertain 5_76621612_A->T 5 76621612 76621612 A T snp 467.77 1/1 36 12 0 12 1.0 intronic rs4133658 PDE8B AU,AD NM_001029853 exon2 c.114804+58A>T 1 1 Uncertain 5_76627436_A->G 5 76627436 76627436 A G snp 245.77 0/1 99 21 13 8 0.38 intronic rs9687030 PDE8B AU,AD NM_001029853 exon4 c.120534+152A>G 0.44349 0.4048 Uncertain 5_76633297_G->A 5 76633297 76633297 G A snp 147.77 0/1 99 12 7 5 0.42 intronic rs7717046 PDE8B AU,AD NM_001029853 exon5 c.126390+157G>A 0.438498 0.3948 Uncertain 5_76640845_C->G 5 76640845 76640845 C G snp 1085.77 0/1 99 77 33 44 0.57 intronic rs11742730 PDE8B AU,AD NM_001029853 exon6 c.134006+89C>G 0.132987 0.0714 Uncertain 5_76645529_G->A 5 76645529 76645529 G A snp 335.78 1/1 27 10 0 10 1.0 intronic rs2306343 PDE8B AU,AD NM_001029853 exon7 c.138634+145G>A 0.892772 0.9742 Uncertain 5_76696334_C->T 5 76696334 76696334 C T snp 599.77 1/1 45 19 0 19 1.0 intronic rs3733952 PDE8B AU,AD NM_001029853 exon10 c.189365+219C>T 0.266573 0.3681 Uncertain 5_76704849_T->C 5 76704849 76704849 T C snp 2627.77 1/1 99 99 0 99 1.0 exonic rs186753 PDE8B AU,AD synonymous SNV NM_003719 exon14 c.T1497C p.P499P 1 1 Uncertain 5_76708987_A->G 5 76708987 76708987 A G snp 1185.77 0/1 99 85 32 53 0.62 exonic rs335614 PDE8B AU,AD synonymous SNV NM_003719 exon17 c.A1764G p.E588E 0.765176 0.8175 0.695141 0.7031 0.8201 Uncertain 5_76714380_C->T 5 76714380 76714380 C T snp 121.77 0/1 99 9 4 5 0.56 intronic rs2242159 PDE8B AU,AD NM_001029853 exon17 c.207521+109C>T 0.545927 0.5893 Uncertain 5_76722443_G->A 5 76722443 76722443 G A snp 1109.77 1/1 81 39 0 39 1.0 UTR3 rs40594 PDE8B AU,AD 0.661142 0.5655 Uncertain 5_76729193_G->C 5 76729193 76729193 G C snp 122.77 0/1 67 8 3 5 0.63 intronic rs462581 WDR41 AU NM_018268 exon1 c.153+81G>C 0.533746 0.4425 Uncertain 5_76733379_C->T 5 76733379 76733379 C T snp 857.77 1/1 63 25 0 25 1.0 intronic rs919224 WDR41 AU NM_018268 exon3 c.4290+130C>T 0.327875 0.3512 Uncertain 5_76734084_C->T 5 76734084 76734084 C T snp 5130.77 1/1 99 185 0 185 1.0 exonic rs33204 WDR41 AU nonsynonymous SNV NM_018268 exon10 c.G985A p.V329I 0.528355 0.4603 0.499154 0.4881 0.4615 0.22 T 0.0 P -0.911 T 0.001 T 0.001 T Pathogenic 5_76736907_G->C 5 76736907 76736907 G C snp 631.77 1/1 48 20 0 20 1.0 intronic rs2560076 WDR41 AU NM_018268 exon5 c.7863+85G>C 0.556709 0.4653 Uncertain 5_76747087_T->C 5 76747087 76747087 T C snp 975.77 1/1 72 34 0 34 1.0 intronic rs335609 WDR41 AU NM_018268 exon7 c.18156-28T>C 0.67492 0.5694 0.626846 0.5940 0.5880 Uncertain 5_76749605_G->C 5 76749605 76749605 G C snp 1363.77 0/1 99 146 87 59 0.4 intronic rs17751147 WDR41 AU NM_018268 exon8 c.20682-36G>C 0.120807 0.2599 0.054590 0.0702 0.2718 Uncertain 5_76758803_T->C 5 76758803 76758803 T C snp 853.77 1/1 63 26 0 26 1.0 intronic rs426381 WDR41 AU NM_018268 exon10 c.29960-116T>C 0.536741 0.4643 Uncertain 5_76760495_T->C 5 76760495 76760495 T C snp 2153.77 1/1 99 74 0 74 1.0 intronic rs410620 WDR41 AU NM_018268 exon11 c.31626-90T>C 0.677716 0.5694 Uncertain 5_76760657_-->A 5 76760657 76760657 - A indel 855.73 0/1 99 89 46 43 0.48 intronic rs11433376 WDR41 AU NM_018268 exon11 c.31675+23insA 0.427516 0.2034 0.472129 0.4351 0.2076 Uncertain 5_76785405_-->G 5 76785405 76785405 - G indel 2760.73 1/1 99 99 2 97 0.98 intronic rs56195720 WDR41 AU NM_018268 exon12 c.56438+8insG 0.333666 0.3254 0.611564 0.3491 0.3667 Uncertain 5_76787808_G->C 5 76787808 76787808 G C snp 180.9 1/1 15 5 0 5 1.0 intronic rs41104 WDR41 AU NM_018268 exon13 c.59035-186G>C 0.608027 0.5694 Uncertain 5_76787919_C->G 5 76787919 76787919 C G snp 3792.77 1/1 99 132 0 132 1.0 intronic rs42764 WDR41 AU NM_018268 exon13 c.59035-75C>G 0.608027 0.5694 Uncertain 5_76916335_-->C 5 76916335 76916335 - C indel 5003.73 1/1 99 120 0 120 1.0 intergenic rs397794669 WDR41 AU 0.692692 0.7123 0.6221 0.7348 Uncertain 5_76926578_T->C 5 76926578 76926578 T C snp 4636.77 1/1 99 178 1 177 0.99 exonic rs13357072 OTP AU synonymous SNV NM_032109 exon3 c.A489G p.K163K 0.993211 1 0.986763 0.9852 1 Uncertain 5_76926651_A->C 5 76926651 76926651 A C snp 1167.77 0/1 99 106 56 50 0.47 intronic rs62362480 OTP AU NM_032109 exon1 c.531+32A>C 0.447883 0.3254 0.443753 0.4627 0.3331 Uncertain 5_77004229_A->G 5 77004229 77004229 A G snp 635.77 1/1 45 27 0 27 1.0 intronic rs9791128 TBCA AU NM_004607 exon3 c.16930+57A>G 0.211661 0.3641 Uncertain 5_77004268_C->G 5 77004268 77004268 C G snp 152.77 0/1 99 17 10 7 0.41 intronic rs78984548 TBCA AU NM_004607 exon3 c.16930+96C>G 0.103235 0.1825 Uncertain 5_77011066_T->C 5 77011066 77011066 T C snp 1376.77 1/1 99 51 0 51 1.0 intronic rs9791058 TBCA AU NM_004607 exon3 c.16930+6894T>C 0.203874 0.3641 0.1972 0.3485 Uncertain 5_77425028_A->T 5 77425028 77425028 A T snp 647.77 0/1 99 86 54 32 0.37 exonic rs6453373 AP3B1 AR nonsynonymous SNV NM_003664 exon16 c.T1754A p.V585E 0.932800 0.8628 0.4310 1 T 0.060 P -0.939 T 0.0 T 0.0 T CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000150163.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 5_77461566_A->G 5 77461566 77461566 A G snp 338.77 0/1 99 23 10 13 0.57 intronic rs6873309 AP3B1 AR NM_003664 exon16 c.162771+70A>G 0.135383 0.1171 0.093049 Uncertain 5_77473419_T->C 5 77473419 77473419 T C snp 346.77 0/1 99 16 5 11 0.69 intronic rs10428660 AP3B1 AR NM_003664 exon19 c.174535+159T>C 0.277756 0.1895 Uncertain 5_77521260_C->G 5 77521260 77521260 C G snp 48.74 1/1 6 2 0 2 1.0 intronic rs4345296 AP3B1 AR NM_003664 exon22 c.222640-105C>G 0.057508 0.1161 Uncertain 5_77523092_G->A 5 77523092 77523092 G A snp 114.77 0/1 93 7 3 4 0.57 intronic rs7714159 AP3B1 AR NM_003664 exon23 c.224470-103G>A 0.327676 0.3244 Uncertain 5_77524068_-->A 5 77524068 77524068 - A indel 985.73 0/1 99 119 49 70 0.59 splicing rs368175252 AP3B1 AR NM_003664 exon24 c.225338+5insA 0.32508 0.3224 0.3269 0.3258 Pathogenic 5_77524091_A->G 5 77524091 77524091 A G snp 928.77 0/1 99 79 41 38 0.48 intronic rs4499809 AP3B1 AR NM_003664 exon24 c.225338+28A>G 0.327875 0.3244 0.329310 0.3511 0.3578 Uncertain 5_77563263_G->A 5 77563263 77563263 G A snp 49.77 0/1 75 7 3 4 0.57 intronic rs10065892 AP3B1 AR NM_003664 exon26 c.264618-80G>A 0.246805 0.3284 Uncertain 5_77745853_-->A 5 77745853 77745853 - A indel 823.73 1/1 63 21 0 21 1.0 exonic rs397998271 SCAMP1 AU unknown 1 1 1.0000 1 Uncertain 5_77755035_T->C 5 77755035 77755035 T C snp 1801.77 1/1 99 64 0 64 1.0 intronic rs6453391 SCAMP1 AU NM_004866 exon8 c.98572-32T>C 0.833067 0.9226 0.834353 0.8202 0.9261 Uncertain 5_77755343_A->G 5 77755343 77755343 A G snp 50.74 1/1 6 2 0 2 1.0 intronic rs13155648 SCAMP1 AU NM_004866 exon8 c.98690+158A>G 0.827276 0.9236 Uncertain 5_77784738_A->G 5 77784738 77784738 A G snp 2584.77 1/1 99 92 0 92 1.0 exonic rs2241566 LHFPL2 AU synonymous SNV NM_005779 exon5 c.T669C p.N223N 0.805398 0.7285 0.6756 Uncertain 5_78181477_C->T 5 78181477 78181477 C T snp 1890.77 0/1 99 153 70 83 0.54 exonic rs1065757 ARSB AR nonsynonymous SNV NM_000046 exon5 c.G1072A p.V358M 0.285543 0.372 0.324696 0.3907 0.3804 0.13 T 1.000 P -1.542 T 1.0 D 0.994 D CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000077997.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 ID=CM088428;DIS=Reduced activity;TAG=FP;PUB=18406185 FP Pathogenic 5_78317413_C->T 5 78317413 78317413 C T snp 2548.77 0/1 99 201 97 104 0.52 intronic rs731124 DMGDH AR NM_013391 exon3 c.26189-2680C>T 0.303914 0.1389 0.331003 0.3727 0.2936 Uncertain 5_78320085_T->C 5 78320085 78320085 T C snp 1372.77 0/1 99 95 36 59 0.62 intronic rs2303128 DMGDH AR NM_013391 exon3 c.26189-8T>C 0.111022 0.1508 0.070549 0.0523 0.1271 Uncertain 5_78324352_A->G 5 78324352 78324352 A G snp 2727.77 0/1 99 250 129 121 0.48 exonic rs1805074 DMGDH AR nonsynonymous SNV NM_013391 exon12 c.T1936C p.S646P 0.304113 0.1399 0.343611 0.2798 0.1529 0.27 T 0.001 P -0.951 T 0.011 T 0.023 T Pathogenic 5_78324482_T->C 5 78324482 78324482 T C snp 2813.77 0/1 99 189 70 119 0.63 intronic rs2303129 DMGDH AR NM_013391 exon5 c.30569+9T>C 0.304113 0.1399 0.343226 0.2798 0.1529 Uncertain 5_78326750_G->C 5 78326750 78326750 G C snp 2443.77 0/1 99 210 100 110 0.52 exonic rs1805073 DMGDH AR nonsynonymous SNV NM_013391 exon10 c.C1589G p.A530G 0.305911 0.1399 0.347224 0.2808 0.1527 1 T 0.036 P -0.978 T 0.001 T 0.001 T Pathogenic 5_78326923_GGGCAGCGGGGAGTG->- 5 78326923 78326937 GGGCAGCGGGGAGTG - indel 3085.73 0/1 99 50 25 25 0.5 intronic rs140713637 DMGDH AR NM_013391 exon7 c.32917+102_32917+116delGGGCAGCGGGGAGTG 0.305511 0.1399 Uncertain 5_78328560_G->A 5 78328560 78328560 G A snp 3151.77 0/1 99 248 122 126 0.51 exonic rs1805072 DMGDH AR synonymous SNV NM_013391 exon9 c.C1467T p.G489G 0.198682 0.1399 0.201907 0.1888 0.1527 Uncertain 5_78340062_T->C 5 78340062 78340062 T C snp 1860.77 0/1 99 120 53 67 0.56 intronic rs248384 DMGDH AR NM_013391 exon11 c.46222-64T>C 0.614417 0.7798 Uncertain 5_78340257_C->G 5 78340257 78340257 C G snp 3061.77 0/1 99 246 114 132 0.54 exonic rs248385 DMGDH AR synonymous SNV NM_013391 exon6 c.G864C p.L288L 0.615216 0.7798 0.551668 0.5614 0.7779 Uncertain 5_78340286_A->G 5 78340286 78340286 A G snp 2852.77 0/1 99 234 109 125 0.53 exonic rs532964 DMGDH AR nonsynonymous SNV NM_013391 exon6 c.T835C p.S279P 0.615216 0.7798 0.551592 0.5614 0.7781 1 T 1.0 P -0.956 T 0.0 T 0.0 T Pathogenic 5_78351582_AT->- 5 78351582 78351583 AT - indel 2401.73 0/1 99 139 86 53 0.38 intronic rs3215302 DMGDH AR NM_013391 exon14 c.57728-50_57728-49delAT 0.114617 0.1498 0.073518 Uncertain 5_78351607_G->C 5 78351607 78351607 G C snp 1123.77 0/1 99 150 95 55 0.37 intronic rs2272038 DMGDH AR NM_013391 exon14 c.57728-25G>C 0.114617 0.1498 0.074550 0.0622 0.1457 Uncertain 5_78351636_A->C 5 78351636 78351636 A C snp 1100.77 0/1 99 141 89 52 0.37 exonic rs2253262 DMGDH AR synonymous SNV NM_013391 exon3 c.T372G p.G124G 0.650559 0.7817 0.630308 0.6448 0.7769 Uncertain 5_78373514_A->T 5 78373514 78373514 A T snp 309.77 0/1 99 24 10 14 0.58 intronic rs7732821 BHMT2 AU NM_017614 exon2 c.7830+79A>T 0.204073 0.1379 Uncertain 5_78421780_G->A 5 78421780 78421780 G A snp 997.77 1/1 75 29 0 29 1.0 intronic rs694290 BHMT AU NM_001713 exon6 c.14160-88G>A 0.703874 0.7778 Uncertain 5_78421959_G->A 5 78421959 78421959 G A snp 1638.77 0/1 99 149 78 71 0.48 exonic rs3733890 BHMT AU nonsynonymous SNV NM_001713 exon6 c.G716A p.R239Q 0.290735 0.3155 0.274027 0.2953 0.3213 0.3 T 0.0 P -0.936 T 0.78 T 0.064 P ID=CM031139;DIS=Reduced risk of coronary artery disease, association;TAG=DP;PUB=12818402 DP Pathogenic 5_78426729_C->G 5 78426729 78426729 C G snp 274.77 0/1 99 21 11 10 0.48 intronic rs73769979 BHMT AU NM_001713 exon8 c.19047-26C>G 0.0447284 0.0615 0.031908 0.0373 0.0588 Uncertain 5_78426969_C->G 5 78426969 78426969 C G snp 1596.77 0/1 99 122 54 68 0.56 UTR3 rs59109725 BHMT AU 0.000798722 0.004 0.0003 0.0035 Uncertain 5_78533584_G->C 5 78533584 78533584 G C snp 340.77 0/1 99 40 25 15 0.38 intronic rs72764988 JMY AU NM_152405 exon1 c.1032+79G>C 0.373602 0.4296 Uncertain 5_78573790_A->T 5 78573790 78573790 A T snp 2312.77 0/1 99 176 75 101 0.57 exonic rs13182512 JMY AU nonsynonymous SNV NM_152405 exon2 c.A1090T p.M364L 0.480631 0.4851 0.548163 0.5465 0.4689 0.25 T 0.090 P -0.966 T 0.001 T 0.002 T Pathogenic 5_78573970_T->C 5 78573970 78573970 T C snp 327.77 0/1 99 31 19 12 0.39 intronic rs16876598 JMY AU NM_152405 exon2 c.41433+64T>C 0.480631 0.4851 Uncertain 5_78586914_G->T 5 78586914 78586914 G T snp 475.77 0/1 99 46 26 20 0.43 intronic rs10043008 JMY AU NM_152405 exon4 c.54479-38G>T 0.460863 0.4841 0.506061 0.5131 0.4686 Uncertain 5_78596044_T->C 5 78596044 78596044 T C snp 5553.77 1/1 99 218 1 217 1.0 exonic rs10514159 JMY AU synonymous SNV NM_152405 exon5 c.T1596C p.D532D 0.679712 0.6319 0.698305 0.6030 0.5935 Uncertain 5_78608355_T->- 5 78608355 78608355 T - indel 140.74 1/1 28 16 0 16 1.0 intronic rs35852788 JMY AU NM_152405 exon8 c.75848+34delT 0.4859 0.4860 Uncertain 5_78692529_G->A 5 78692529 78692529 G A snp 378.77 0/1 99 30 13 17 0.57 intronic rs6872497 HOMER1 AU NM_001277077 exon2 c.20814-116G>A 0.204673 0.119 Uncertain 5_78742858_T->C 5 78742858 78742858 T C snp 814.77 0/1 99 69 31 38 0.55 intronic rs12516663 HOMER1 AU NM_004272 exon6 c.71044-17T>C 0.30631 0.4355 0.181326 0.2483 0.4308 Uncertain 5_78742980_G->A 5 78742980 78742980 G A snp 978.77 1/1 72 32 0 32 1.0 intronic rs6862358 HOMER1 AU NM_004272 exon6 c.71137+12G>A 0.807109 0.9911 0.593092 0.6159 0.9880 Uncertain 5_78746699_C->T 5 78746699 78746699 C T snp 110.77 0/1 99 11 7 4 0.36 intronic rs13356332 HOMER1 AU NM_001277077 exon4 c.74981-113C>T 0.256989 0.1548 Uncertain 5_78936902_C->T 5 78936902 78936902 C T snp 656.77 0/1 99 55 28 27 0.49 intronic rs77993880 PAPD4 AU NM_001114394 exon6 c.21456-25C>T 0.00599042 0.0298 0.000077 0.0023 0.0291 Uncertain 5_79024734_A->G 5 79024734 79024734 A G snp 691.77 0/1 99 46 23 23 0.5 splicing rs1541813 CMYA5 AU NM_153610 exon2 c.39007-3A>G 0.549521 0.6012 0.494465 0.4637 0.6236 Pathogenic 5_79025157_A->G 5 79025157 79025157 A G snp 1361.77 0/1 99 121 63 58 0.48 exonic rs10942901 CMYA5 AU nonsynonymous SNV NM_153610 exon2 c.A569G p.D190G 0.166733 0.2202 0.132546 0.1565 0.1774 0 D 0.0 P -1.014 T 0.91 T 0.469 D Pathogenic 5_79028472_C->T 5 79028472 79028472 C T snp 2454.77 0/1 99 216 108 108 0.5 exonic rs4704585 CMYA5 AU nonsynonymous SNV NM_153610 exon2 c.C3884T p.A1295V 0.555312 0.6448 0.489953 0.4432 0.6542 1 T 0.0 P -1.038 T 0.004 T 0.001 T Pathogenic 5_79030045_A->G 5 79030045 79030045 A G snp 2566.77 0/1 99 211 97 114 0.54 exonic rs4639193 CMYA5 AU synonymous SNV NM_153610 exon2 c.A5457G p.V1819V 0.584265 0.6468 0.524166 0.4525 0.6578 Uncertain 5_79031558_G->A 5 79031558 79031558 G A snp 1272.77 0/1 99 122 64 58 0.48 exonic rs62621912 CMYA5 AU nonsynonymous SNV NM_153610 exon2 c.G6970A p.G2324S 0.166733 0.2639 0.122449 0.1599 0.2233 0.41 T 0.0 P -0.956 T 0.123 T 0.015 T Pathogenic 5_79041057_A->G 5 79041057 79041057 A G snp 1028.77 0/1 99 79 35 44 0.56 exonic rs12514461 CMYA5 AU nonsynonymous SNV NM_153610 exon4 c.A10747G p.K3583E 0.0996406 0.0833 0.091301 0.1926 0.1773 0.04 T 0.910 P -1.052 T 0.981 D 0.727 D Pathogenic 5_79048562_C->T 5 79048562 79048562 C T snp 1648.77 0/1 99 140 69 71 0.51 exonic rs1366272 CMYA5 AU synonymous SNV NM_153610 exon6 c.C11055T p.F3685F 0.23123 0.4157 0.127197 0.1524 0.4555 Uncertain 5_79084949_G->C 5 79084949 79084949 G C snp 1898.77 0/1 99 142 64 78 0.55 intronic rs2302979 CMYA5 AU NM_153610 exon10 c.99197+22G>C 0.20607 0.2014 0.143304 0.1732 0.2030 Uncertain 5_79086627_C->T 5 79086627 79086627 C T snp 286.77 0/1 99 24 14 10 0.42 intronic rs2287676 CMYA5 AU NM_153610 exon11 c.101062-165C>T 0.191494 0.1696 Uncertain 5_79086649_G->A 5 79086649 79086649 G A snp 309.77 0/1 99 36 23 13 0.36 intronic rs259096 CMYA5 AU NM_153610 exon11 c.101062-143G>A 0.792332 0.9058 Uncertain 5_79086883_G->A 5 79086883 79086883 G A snp 1471.77 0/1 99 134 72 62 0.46 exonic rs1129770 CMYA5 AU nonsynonymous SNV NM_153610 exon11 c.G11780A p.R3927Q 0.11901 0.0942 0.153422 0.1573 0.0988 0.01 T 0.027 P -1.012 T 1.0 D 0.944 D Pathogenic 5_79281658_T->C 5 79281658 79281658 T C snp 499.77 1/1 39 15 0 15 1.0 intronic rs7734858 MTX3 AU NM_001167741 exon2 c.1976+176T>C 0.61222 0.5754 Uncertain 5_79282544_C->T 5 79282544 79282544 C T snp 532.77 1/1 39 21 0 21 1.0 intronic rs2291524 MTX3 AU NM_001167741 exon3 c.3266-228C>T 0.641973 0.5754 Uncertain 5_79286831_C->G 5 79286831 79286831 C G snp 1700.77 0/1 99 167 92 75 0.45 intronic rs34727832 MTX3 AU NM_001167741 exon8 c.7474-149C>G 0.16853 0.1865 0.2066 0.1792 Uncertain 5_79331438_C->T 5 79331438 79331438 C T snp 492.77 0/1 99 33 12 21 0.64 exonic rs3749684 THBS4 AU synonymous SNV NM_003248 exon1 c.C78T p.A26A 0.00499201 0.0248 0.0070 0.05 Uncertain 5_79351544_G->A 5 79351544 79351544 G A snp 1245.77 1/1 90 40 0 40 1.0 intronic rs412379 THBS4 AU NM_003248 exon3 c.20247-63G>A 0.569289 0.5139 Uncertain 5_79351735_C->T 5 79351735 79351735 C T snp 3364.77 0/1 99 250 117 133 0.53 exonic rs423906 THBS4 AU synonymous SNV NM_003248 exon3 c.C420T p.S140S 0.283546 0.2183 0.234738 0.2243 0.2243 Uncertain 5_79351852_A->T 5 79351852 79351852 A T snp 5484.77 1/1 99 211 1 210 1.0 exonic rs438042 THBS4 AU synonymous SNV NM_003248 exon3 c.A537T p.P179P 0.569489 0.5139 0.536840 0.5089 0.4741 Uncertain 5_79351859_G->A 5 79351859 79351859 G A snp 5140.77 1/1 99 192 0 192 1.0 splicing rs405482 THBS4 AU NM_003248 exon3 c.20495+4G>A 0.569489 0.5139 0.5076 0.4729 Pathogenic 5_79351860_G->A 5 79351860 79351860 G A snp 5038.77 1/1 99 191 0 191 1.0 splicing rs447875 THBS4 AU NM_003248 exon3 c.20495+5G>A 0.569489 0.5139 0.5074 0.4727 Pathogenic 5_79354147_C->T 5 79354147 79354147 C T snp 1616.77 1/1 99 50 0 50 1.0 intronic rs368936 THBS4 AU NM_003248 exon4 c.22777+10C>T 0.573083 0.5198 0.550533 0.5649 0.5662 Uncertain 5_79354184_A->G 5 79354184 79354184 A G snp 263.77 0/1 99 17 7 10 0.59 intronic rs2241826 THBS4 AU NM_003248 exon4 c.22777+47A>G 0.28774 0.3056 0.279695 0.3025 0.3290 Uncertain 5_79354647_C->G 5 79354647 79354647 C G snp 2262.77 1/1 99 77 1 76 0.99 intronic rs432267 THBS4 AU NM_003248 exon5 c.23253+34C>G 0.571685 0.5198 0.543057 0.5251 0.4993 Uncertain 5_79354702_C->T 5 79354702 79354702 C T snp 967.77 1/1 36 31 1 30 0.97 intronic rs411943 THBS4 AU NM_003248 exon5 c.23253+89C>T 0.570288 0.5198 Uncertain 5_79354728_C->T 5 79354728 79354728 C T snp 208.77 0/1 99 24 15 9 0.38 intronic rs434409 THBS4 AU NM_003248 exon5 c.23253+115C>T 0.279952 0.2133 Uncertain 5_79355151_A->- 5 79355151 79355151 A - indel 80.73 0/1 59 20 7 13 0.65 intronic rs34023954 THBS4 AU NM_003248 exon6 c.23902-111delA 0.453075 0.4623 Uncertain 5_79355192_T->A 5 79355192 79355192 T A snp 4281.77 1/1 99 140 0 140 1.0 intronic rs2434302 THBS4 AU NM_003248 exon6 c.23902-70T>A 0.570288 0.5198 0.545773 Uncertain 5_79355471_C->T 5 79355471 79355471 C T snp 1235.77 0/1 99 105 59 46 0.44 intronic rs401302 THBS4 AU NM_003248 exon7 c.24165-54C>T 0.298722 0.2123 Uncertain 5_79361265_G->C 5 79361265 79361265 G C snp 1884.77 0/1 99 207 118 89 0.43 exonic rs1866389 THBS4 AU nonsynonymous SNV NM_003248 exon9 c.G1159C p.A387P 0.125799 0.0506 0.179994 0.1783 0.0400 0.8 T 0.886 P -0.903 T 0.568 P 0.352 P ID=CM054868;DIS=Myocardial infarction, association with;TAG=DFP;PUB=11723011 DFP Pathogenic 5_79361403_ATAAT->- 5 79361403 79361407 ATAAT - indel 916.73 0/1 99 32 13 19 0.59 intronic rs10600128 THBS4 AU NM_003248 exon9 c.29940+103_29940+107delATAAT 0.287939 0.2143 Uncertain 5_79366080_T->C 5 79366080 79366080 T C snp 213.77 0/1 99 18 11 7 0.39 ncRNA_intronic rs256439 CTD-2201I18.1 AU 0.249201 0.2421 0.264724 0.2442 0.2144 Uncertain 5_79366249_T->G 5 79366249 79366249 T G snp 936.77 0/1 99 90 49 41 0.46 ncRNA_intronic rs256438 CTD-2201I18.1 AU 0.269369 0.256 0.305013 0.3107 0.2217 Uncertain 5_79368016_T->C 5 79368016 79368016 T C snp 1393.77 1/1 99 52 0 52 1.0 ncRNA_exonic rs256437 CTD-2201I18.1 AU 0.994209 0.9742 Uncertain 5_79368049_AGA->- 5 79368049 79368051 AGA - indel 2192.73 0/1 99 80 37 43 0.54 ncRNA_splicing rs17882916 CTD-2201I18.1 AU 0.32528 0.2758 Uncertain 5_79373803_C->T 5 79373803 79373803 C T snp 1948.77 0/1 99 167 87 80 0.48 ncRNA_intronic rs2288394 CTD-2201I18.1 AU 0.401358 0.4018 Uncertain 5_79375724_G->C 5 79375724 79375724 G C snp 867.77 0/1 99 92 52 40 0.43 splicing rs2288395 THBS4 AU NM_003248 exon20 c.44367-3G>C 0.391174 0.4147 0.304090 0.3111 0.4178 Pathogenic 5_79378447_-->C 5 79378447 79378447 - C indel 606.73 0/1 99 54 20 34 0.63 ncRNA_intronic rs369193500 CTD-2201I18.1 AU Uncertain 5_79378528_A->G 5 79378528 79378528 A G snp 133.03 1/1 12 4 0 4 1.0 ncRNA_intronic rs2434300 CTD-2201I18.1 AU 0.91274 0.7579 Uncertain 5_79378784_GCGGGGCGTCCTGG->- 5 79378784 79378797 GCGGGGCGTCCTGG - indel 1584.73 0/1 99 18 8 10 0.56 ncRNA_intronic rs11273406 CTD-2201I18.1 AU 0.267372 0.2907 Uncertain 5_79431019_C->G 5 79431019 79431019 C G snp 140.77 0/1 99 12 7 5 0.42 intronic rs6893450 SERINC5 AU NM_178276 exon3 c.32489-10893C>G 0.552117 0.3244 Uncertain 5_79443169_A->G 5 79443169 79443169 A G snp 3176.77 1/1 99 118 1 117 0.99 intronic rs7712447 SERINC5 AU NM_178276 exon4 c.33684+62A>G 0.934305 1 0.865747 Uncertain 5_79473059_-->T 5 79473059 79473059 - T indel 1833.73 1/1 99 46 0 46 1.0 intronic rs11429938 SERINC5 AU NM_178276 exon10 c.63713-77insT 1 1 Uncertain 5_79498623_A->G 5 79498623 79498623 A G snp 3247.77 0/1 99 250 117 133 0.53 intronic rs7723756 SERINC5 AU NM_178276 exon12 c.89281-81A>G 0.120008 0.1865 Uncertain 5_79551867_A->G 5 79551867 79551867 A G snp 827.77 1/1 60 30 0 30 1.0 UTR5 rs1966470 SERINC5 AU 0.997404 1 Uncertain 5_79596274_C->T 5 79596274 79596274 C T snp 337.77 0/1 99 23 11 12 0.52 ncRNA_exonic rs35486429 LOC644936 AU 0.34365 0.3522 Uncertain 5_79616083_G->C 5 79616083 79616083 G C snp 3729.77 1/1 99 133 0 133 1.0 exonic rs1862136 SPZ1 AU nonsynonymous SNV NM_032567 exon1 c.G49C p.V17L 0.791933 0.9395 0.722377 0.7154 0.9525 1 T 0.0 P -0.980 T 0.0 T 0.0 T Pathogenic 5_79731608_G->A 5 79731608 79731608 G A snp 431.77 1/1 33 16 0 16 1.0 intronic rs2544599 ZFYVE16 AU NM_014733 exon3 c.2608-966G>A 0.760383 0.9157 0.8245 0.9677 Uncertain 5_79733079_T->C 5 79733079 79733079 T C snp 3057.77 1/1 99 109 0 109 1.0 exonic rs2544600 ZFYVE16 AU nonsynonymous SNV NM_014733 exon3 c.T575C p.I192T 0.760982 0.9157 0.762173 0.8639 0.9315 0.42 T 0.0 P -0.985 T 0.057 T 0.016 T Pathogenic 5_79734201_T->C 5 79734201 79734201 T C snp 1663.77 0/1 99 117 52 65 0.56 exonic rs143806879 ZFYVE16 AU nonsynonymous SNV NM_014733 exon3 c.T1697C p.M566T 0.000998403 0.005 0.0006 0.0085 0.41 T 1 N -1.013 T 0.157 T 0.051 T Pathogenic 5_79734297_T->C 5 79734297 79734297 T C snp 2884.77 1/1 99 101 0 101 1.0 exonic rs259028 ZFYVE16 AU nonsynonymous SNV NM_014733 exon3 c.T1793C p.I598T 0.853634 0.9196 0.867647 0.9097 0.9330 1 T 0.0 P -0.955 T 0.0 T 0.0 T Pathogenic 5_79734409_G->A 5 79734409 79734409 G A snp 6271.77 1/1 99 222 0 222 1.0 exonic rs259029 ZFYVE16 AU synonymous SNV NM_014733 exon3 c.G1905A p.S635S 0.873602 0.9196 0.887975 0.9218 0.9329 Uncertain 5_79735858_A->G 5 79735858 79735858 A G snp 1029.77 1/1 75 35 0 35 1.0 intronic rs168939 ZFYVE16 AU NM_014733 exon4 c.5885+7A>G 0.744209 0.9157 0.743962 0.8573 0.9316 Uncertain 5_79739685_G->A 5 79739685 79739685 G A snp 3151.77 1/1 99 116 0 116 1.0 intronic rs259033 ZFYVE16 AU NM_014733 exon5 c.9137+582G>A 0.754193 0.9157 Uncertain 5_79741018_T->A 5 79741018 79741018 T A snp 1413.77 1/1 99 42 0 42 1.0 intronic rs259034 ZFYVE16 AU NM_014733 exon6 c.11115-63T>A 0.755591 0.9157 Uncertain 5_79743821_T->A 5 79743821 79743821 T A snp 523.77 1/1 39 19 0 19 1.0 intronic rs2251759 ZFYVE16 AU NM_014733 exon7 c.13878-23T>A 0.853435 0.9196 0.870995 0.9142 0.9336 Uncertain 5_79745469_A->G 5 79745469 79745469 A G snp 1311.77 1/1 93 56 0 56 1.0 exonic rs249038 ZFYVE16 AU nonsynonymous SNV NM_014733 exon8 c.A3163G p.S1055G 0.853435 0.9196 0.867231 0.9092 0.9330 1 T 0.000 P -0.963 T 0.0 T 0.0 T ID=CM152572;DIS=Psoriasis, association with;TAG=DP;PUB=25854761 DP Pathogenic 5_79747291_A->G 5 79747291 79747291 A G snp 1395.77 1/1 99 51 0 51 1.0 intronic rs249039 ZFYVE16 AU NM_014733 exon10 c.17337-12A>G 0.754792 0.9157 0.754466 0.8655 0.9315 Uncertain 5_79773028_T->G 5 79773028 79773028 T G snp 1943.77 1/1 99 76 2 74 0.97 intronic rs166062 ZFYVE16 AU NM_014733 exon18 c.43071-9T>G 0.764976 0.9157 0.764416 0.8677 0.9368 Uncertain 5_79784184_G->C 5 79784184 79784184 G C snp 50.74 1/1 6 2 0 2 1.0 intronic rs394170 FAM151B AU NM_205548 exon1 c.25+217G>C 0.745008 0.9157 Uncertain 5_79809658_A->T 5 79809658 79809658 A T snp 185.77 0/1 99 18 10 8 0.44 intronic rs249011 FAM151B AU NM_205548 exon3 c.25646+70A>T 0.562899 0.4435 Uncertain 5_79815658_T->C 5 79815658 79815658 T C snp 2720.77 0/1 99 249 137 112 0.45 exonic rs369998 FAM151B AU nonsynonymous SNV NM_205548 exon4 c.T464C p.I155T 0.733427 0.6062 0.801169 0.7495 0.6087 0.65 T 0.000 P -1.014 T 0.0 T 0.0 T Pathogenic 5_79855372_A->G 5 79855372 79855372 A G snp 4675.77 1/1 99 163 0 163 1.0 exonic rs32857 ANKRD34B AU nonsynonymous SNV NM_001004441 exon5 c.T467C p.L156S 0.942492 0.998 0.888590 0.8916 0.9987 1 T 0.000 P -0.947 T 0.0 T 0.0 T Pathogenic 5_79855876_T->C 5 79855876 79855876 T C snp 1814.77 1/1 99 68 0 68 1.0 intronic rs187262 ANKRD34B AU NM_001004441 exon1 c.1568+15T>C 0.865216 0.995 0.806976 0.8218 0.9969 Uncertain 5_79950505_C->T 5 79950505 79950505 C T snp 1172.77 0/1 99 109 63 46 0.42 UTR5 rs534679562 DHFR AR 0.00159744 0.0079 0.0017 0.0221 Uncertain 5_79950512_A->G 5 79950512 79950512 A G snp 1426.77 0/1 99 124 66 58 0.47 UTR5 rs1105524 DHFR AR 0.704273 0.4008 0.760849 0.6744 0.4212 Uncertain 5_79950724_-->CCGCAGCGC 5 79950724 79950724 - CCGCAGCGC indel 3524.73 0/1 99 168 78 90 0.54 exonic rs758718643 MSH3 AU nonframeshift insertion NM_002439 exon1 c.178_179insCCGCAGCGC p.A60delinsAAAP 0.130155 0.0427 0.0928 Uncertain 5_79950781_A->G 5 79950781 79950781 A G snp 927.77 0/1 99 39 8 31 0.79 exonic rs1650697 MSH3 AU nonsynonymous SNV NM_002439 exon1 c.A235G p.I79V 0.76857 0.6607 0.9029 0.875 0.0 P -1.021 T 0.0 T 0.0 T ID=CM003459;DIS=Colon cancer, association with;TAG=DP;PUB=10944853 DP Pathogenic 5_79966029_G->A 5 79966029 79966029 G A snp 2010.77 0/1 99 168 77 91 0.54 exonic rs1805355 MSH3 AU synonymous SNV NM_002439 exon4 c.G693A p.P231P 0.182907 0.3383 0.101569 0.1263 0.3260 ID=CS108876;DIS=Colorectal cancer;TAG=DM?;PUB=21128252 DM? Uncertain 5_79974646_T->C 5 79974646 79974646 T C snp 468.77 1/1 36 13 0 13 1.0 intronic rs836807 MSH3 AU NM_002439 exon8 c.24199-99T>C 0.999401 1 Uncertain 5_80021193_C->T 5 80021193 80021193 C T snp 205.77 0/1 99 31 21 10 0.32 intronic rs245016 MSH3 AU NM_002439 exon9 c.70725-78C>T 0.717053 0.6498 Uncertain 5_80040532_A->G 5 80040532 80040532 A G snp 65.77 0/1 94 13 9 4 0.31 intronic rs3816729 MSH3 AU NM_002439 exon12 c.89888+98A>G 0.176318 0.3363 Uncertain 5_80083631_G->A 5 80083631 80083631 G A snp 248.8 1/1 21 7 0 7 1.0 intronic rs33010 MSH3 AU NM_002439 exon18 c.132945+140G>A 0.88139 1 Uncertain 5_80149981_A->G 5 80149981 80149981 A G snp 4084.77 1/1 99 142 0 142 1.0 exonic rs184967 MSH3 AU nonsynonymous SNV NM_002439 exon21 c.A2846G p.Q949R 0.902157 1 0.855221 0.8731 0.9993 0.000 P -0.948 T 0.0 T 0.001 T ID=CM076322;DIS=Proximal colon cancer, increased risk, association with;TAG=DP;PUB=17205513 DP Pathogenic 5_80168937_G->A 5 80168937 80168937 G A snp 3057.77 0/1 99 250 121 129 0.52 exonic rs26279 MSH3 AU nonsynonymous SNV NM_002439 exon23 c.G3133A p.A1045T 0.720248 0.753 0.694679 0.7305 0.7438 0.0 P -0.949 T 0.075 T 0.035 T ID=CM076321;DIS=Colorectal cancer, increased risk, association with;TAG=DP;PUB=17205513 DP Pathogenic 5_80366544_T->C 5 80366544 80366544 T C snp 99.28 1/1 9 3 0 3 1.0 intronic rs528556761 RASGRF2 AU NM_006909 exon4 c.109843+144T>C 0.000199681 0.001 Uncertain 5_80376708_G->A 5 80376708 80376708 G A snp 849.77 0/1 99 54 27 27 0.5 intronic rs77585820 RASGRF2 AU NM_006909 exon7 c.120051+100G>A 0.0183706 0.0288 Uncertain 5_80382806_G->T 5 80382806 80382806 G T snp 1562.77 1/1 99 47 0 47 1.0 intronic rs7733625 RASGRF2 AU NM_006909 exon9 c.126215+34G>T 0.254193 0.2698 0.258419 0.2668 0.2708 Uncertain 5_80388554_C->T 5 80388554 80388554 C T snp 1416.77 1/1 99 40 0 40 1.0 intronic rs2592094 RASGRF2 AU NM_006909 exon10 c.132062-65C>T 0.378594 0.4167 Uncertain 5_80390225_C->T 5 80390225 80390225 C T snp 645.77 1/1 48 25 0 25 1.0 intronic rs505748 RASGRF2 AU NM_006909 exon11 c.133624+44C>T 0.387181 0.4167 0.409734 0.4488 0.4508 Uncertain 5_80408714_T->C 5 80408714 80408714 T C snp 459.77 0/1 99 34 18 16 0.47 intronic rs768363713 RASGRF2 AU NM_006909 exon14 c.152120+37T>C 0.0001 0.0019 Uncertain 5_80409229_C->G 5 80409229 80409229 C G snp 196.77 0/1 99 22 15 7 0.32 intronic rs26422 RASGRF2 AU NM_006909 exon15 c.152799-127C>G 0.686302 0.5079 Uncertain 5_80409729_T->C 5 80409729 80409729 T C snp 750.77 0/1 99 71 36 35 0.49 exonic rs10942942 RASGRF2 AU synonymous SNV NM_006909 exon15 c.T2460C p.S820S 0.436302 0.254 0.498924 0.4160 0.2515 Uncertain 5_80419349_C->G 5 80419349 80419349 C G snp 221.77 0/1 99 12 4 8 0.67 intronic rs26891 RASGRF2 AU NM_006909 exon16 c.162903-111C>G Uncertain 5_80423109_G->A 5 80423109 80423109 G A snp 175.77 0/1 99 11 5 6 0.55 intronic rs153244 RASGRF2 AU NM_006909 exon17 c.166425+127G>A 0.271965 0.1667 Uncertain 5_80475866_G->A 5 80475866 80475866 G A snp 88.28 1/1 9 3 0 3 1.0 intronic rs7722620 RASGRF2 AU NM_006909 exon18 c.219436-127G>A 0.4377 0.6498 Uncertain 5_80608266_A->T 5 80608266 80608266 A T snp 661.77 0/1 99 55 30 25 0.45 ncRNA_intronic rs955948 RNU5D-1 AU 0.232628 0.2669 Uncertain 5_80659585_C->T 5 80659585 80659585 C T snp 206.77 0/1 99 34 24 10 0.29 ncRNA_intronic RNU5D-1 AU Uncertain 5_81046989_C->G 5 81046989 81046989 C G snp 940.77 0/1 99 68 32 36 0.53 UTR5 rs571100298 SSBP2 AU 0.000199681 0.001 Uncertain 5_81474225_A->T 5 81474225 81474225 A T snp 1017.77 1/1 75 29 0 29 1.0 intronic rs9293290 ATG10 AU NM_001131028 exon6 c.190919-83A>T 0.609824 0.8988 Uncertain 5_81538528_C->T 5 81538528 81538528 C T snp 1257.77 1/1 90 49 0 49 1.0 intronic rs12654645 ATG10 AU NM_001131028 exon7 c.264991-9852C>T 0.519169 0.8829 Uncertain 5_81549216_C->T 5 81549216 81549216 C T snp 5016.77 1/1 99 177 0 177 1.0 exonic rs1864183 ATG10 AU nonsynonymous SNV NM_001131028 exon8 c.C635T p.T212M 0.520767 0.8909 0.377441 0.5092 0.8823 0.17 T 0.0 P -1.013 T 0.113 T 0.006 T ID=CM1310418;DIS=Breast cancer, reduced risk, association with;TAG=DP;PUB=23850577 DP Pathogenic 5_81549240_C->A 5 81549240 81549240 C A snp 4286.77 1/1 99 157 0 157 1.0 exonic rs1864182 ATG10 AU nonsynonymous SNV NM_001131028 exon8 c.C659A p.P220H 0.561901 0.9077 0.445564 0.5788 0.9077 0 D 0.0 P -0.923 T 0.0 T 0.0 T ID=CM1310417;DIS=Breast cancer, reduced risk, association with;TAG=DP;PUB=23850577 DP Pathogenic 5_81549280_C->T 5 81549280 81549280 C T snp 3020.77 1/1 99 105 0 105 1.0 intronic rs1864181 ATG10 AU NM_001131028 exon8 c.265859+32C>T 0.562101 0.9077 0.446025 0.5773 0.9082 Uncertain 5_81572184_G->C 5 81572184 81572184 G C snp 1941.77 1/1 99 67 0 67 1.0 intronic rs226200 RPS23 AU NM_001025 exon2 c.289-32G>C 0.554513 0.8968 0.442933 0.5992 0.9037 0 D 0.000 P -1.022 T Uncertain 5_81572464_G->C 5 81572464 81572464 G C snp 559.77 1/1 42 17 0 17 1.0 intronic rs226199 RPS23 AU NM_001025 exon2 c.410+127G>C 0.76877 0.9127 Uncertain 5_81572492_C->A 5 81572492 81572492 C A snp 198.77 0/1 60 8 2 6 0.75 intronic rs75377932 RPS23 AU NM_001025 exon2 c.410+155C>A 0.0301518 0.1419 Uncertain 5_81573992_C->T 5 81573992 81573992 C T snp 1698.77 1/1 99 54 0 54 1.0 intronic rs226198 RPS23 AU NM_001025 exon4 c.2211-146C>T 0.898962 1 Uncertain 5_82135830_-->CA 5 82135830 82135830 - CA indel 307.73 0/1 41 15 6 9 0.6 upstream rs375484670 MIR3977 AU Uncertain 5_82136051_-->T 5 82136051 82136051 - T indel 833.73 0/1 99 70 33 37 0.53 downstream rs199505678 MIR3977 AU 0.00539137 0.0268 Uncertain 5_82136064_-->TCTTC 5 82136064 82136064 - TCTTC indel 4176.73 1/1 99 61 0 61 1.0 downstream rs113309601 MIR3977 AU 0.903754 0.9256 1 . Uncertain 5_82648943_G->A 5 82648943 82648943 G A snp 1730.77 1/1 99 61 0 61 1.0 splicing rs1805377 XRCC4 AR NM_022406 exon8 c.248205G>A 0.3752 0.7044 0.229580 0.2302 0.7198 0.000 P ID=CS075240;DIS=Bladder cancer, increased risk, association with;TAG=DP;PUB=17557904 DP Pathogenic 5_82648977_T->G 5 82648977 82648977 T G snp 2540.77 1/1 99 94 1 93 0.99 exonic rs1056503 XRCC4 AR synonymous SNV NM_022406 exon8 c.T927G p.S309S 0.375599 0.7063 0.230468 0.2299 0.7205 Uncertain 5_82649162_T->C 5 82649162 82649162 T C snp 401.77 0/1 99 27 12 15 0.56 UTR3 rs28360342 XRCC4 AR 0.00898562 0.0417 Uncertain 5_82779265_A->T 5 82779265 82779265 A T snp 316.77 0/1 99 24 11 13 0.54 intronic rs116880125 VCAN AD 0.00559105 0.0268 Uncertain 5_82779397_G->A 5 82779397 82779397 G A snp 765.77 0/1 99 72 41 31 0.43 exonic rs755828566 VCAN AD synonymous SNV NM_004385 exon2 c.G60A p.A20A 1.655e-05 0.0002 Uncertain 5_82808072_C->T 5 82808072 82808072 C T snp 1219.77 0/1 99 87 42 45 0.52 exonic rs2652098 VCAN AD nonsynonymous SNV NM_004385 exon6 c.C899T p.S300L 0.0726837 0.2272 0.005382 0.0323 0.2034 0.15 T 0.0 P -1.022 T 0.023 T 0.026 T Pathogenic 5_82815408_G->A 5 82815408 82815408 G A snp 2617.77 0/1 99 250 142 108 0.43 exonic rs2287926 VCAN AD nonsynonymous SNV NM_004385 exon7 c.G1283A p.G428D 0.212859 0.1796 0.170152 0.1527 0.1760 0.21 T 0.0 P -1.067 T 0.99 D 0.763 D Pathogenic 5_82818197_A->- 5 82818197 82818197 A - indel 167.73 0/1 99 14 7 7 0.5 intronic rs146101985 VCAN AD NM_004385 exon7 c.38791+69delA Uncertain 5_82833145_G->A 5 82833145 82833145 G A snp 3181.78 0/1 99 250 121 129 0.52 exonic rs2548541 VCAN AD synonymous SNV NM_004385 exon8 c.G4323A p.Q1441Q 0.672074 0.6478 0.6347 Uncertain 5_82836565_T->C 5 82836565 82836565 T C snp 1649.77 0/1 99 134 71 63 0.47 exonic rs75771891 VCAN AD synonymous SNV NM_004385 exon8 c.T7743C p.D2581D 0.0109824 0.0526 0.0047 0.0578 Uncertain 5_82841476_T->C 5 82841476 82841476 T C snp 846.77 0/1 99 76 41 35 0.46 intronic rs695103 VCAN AD NM_004385 exon9 c.62132+7T>C 0.163738 0.2381 0.094110 0.1421 0.2268 Uncertain 5_82875800_C->T 5 82875800 82875800 C T snp 3490.77 1/1 99 121 0 121 1.0 exonic rs308365 VCAN AD synonymous SNV NM_004385 exon14 c.C9882T p.V3294V 0.992013 1 0.974781 0.9755 1 Uncertain 5_82940273_C->G 5 82940273 82940273 C G snp 5630.77 1/1 99 209 0 209 1.0 exonic rs2242128 HAPLN1 AU synonymous SNV NM_001884 exon4 c.G684C p.G228G 0.738219 0.5813 0.738428 0.7017 0.5741 Uncertain 5_82940510_T->C 5 82940510 82940510 T C snp 222.84 1/1 18 7 0 7 1.0 intronic rs1457081 HAPLN1 AU NM_001884 exon2 c.3170+26T>C 0.738419 0.5813 0.739157 0.7047 0.5830 Uncertain 5_82948216_A->G 5 82948216 82948216 A G snp 201.82 0/1 19 7 1 6 0.86 intronic rs2045380 HAPLN1 AU NM_001884 exon3 c.10957-55A>G 0.138578 0.13 0.1255 0.1404 Uncertain 5_83239133_A->- 5 83239133 83239133 A - indel 316.27 0/1 1 23 3 20 0.87 UTR3 rs146077789 EDIL3 AU Uncertain 5_83433003_ACAC->- 5 83433003 83433006 ACAC - indel 3985.73 ./1 99 108 2 106 0.98 intronic EDIL3 AU NM_005711 exon7 c.193821-55_193821-52delACAC Uncertain 5_83433003_AC->- 5 83433003 83433004 AC - indel 3985.73 ./1 99 108 2 106 0.98 intronic rs70975542 EDIL3 AU NM_005711 exon7 c.193821-55_193821-54delAC Uncertain 5_85582712_T->C 5 85582712 85582712 T C snp 1457.77 0/1 99 107 44 63 0.59 ncRNA_splicing rs2964837 NBPF22P AU 0.597644 0.8185 0.5799 0.8040 Uncertain 5_85586584_C->T 5 85586584 85586584 C T snp 286.77 0/1 99 30 18 12 0.4 ncRNA_intronic rs10038100 NBPF22P AU 0.469449 0.4504 Uncertain 5_85586831_C->T 5 85586831 85586831 C T snp 1024.77 0/1 99 93 47 46 0.49 ncRNA_exonic rs12654078 NBPF22P AU 0.1164 0.4087 Uncertain 5_85914036_T->A 5 85914036 85914036 T A snp 1157.77 0/1 99 108 55 53 0.49 intronic rs16902282 COX7C AU NM_001867 exon1 c.75+89T>A 0.0537141 0.0317 Uncertain 5_85916305_T->C 5 85916305 85916305 T C snp 813.77 0/1 99 59 26 33 0.56 intronic rs116683123 COX7C AU NM_001867 exon3 c.2612-179T>C 0.0139776 0.0317 0.0084 0.0152 Uncertain 5_86564995_T->A 5 86564995 86564995 T A snp 3143.77 1/1 99 93 0 93 1.0 intronic rs3734000 RASA1 AU,AD NM_022650 exon1 c.8+123T>A 0.369409 0.4673 Uncertain 5_86633973_G->A 5 86633973 86633973 G A snp 566.77 1/1 42 21 0 21 1.0 intronic rs3752862 RASA1 AU,AD NM_022650 exon5 c.69044+65G>A 0.631589 0.5903 Uncertain 5_86667856_-->A 5 86667856 86667856 - A indel 961.73 1/1 87 39 1 38 0.97 intronic rs35014912 RASA1 AU,AD NM_022650 exon13 c.103070-78insA Uncertain 5_86679496_A->- 5 86679496 86679496 A - indel 103.73 0/1 99 25 12 13 0.52 intronic rs368117332 RASA1 AU,AD NM_022650 exon21 c.114665-33delA 0.4516 0.4425 Uncertain 5_86708837_A->C 5 86708837 86708837 A C snp 469.77 1/1 36 12 0 12 1.0 UTR5 rs1807895 CCNH AU 0.0874601 0.3542 Uncertain 5_87497977_C->T 5 87497977 87497977 C T snp 1098.77 1/1 78 40 0 40 1.0 intronic rs358289 TMEM161B AU NM_153354 exon4 c.6751-801C>T 0.990615 0.996 0.9872 1 Uncertain 5_87498027_G->A 5 87498027 87498027 G A snp 897.77 1/1 66 36 0 36 1.0 intronic rs3099436 TMEM161B AU NM_153354 exon4 c.6751-751G>A 0.490415 0.7887 Uncertain 5_87498069_C->T 5 87498069 87498069 C T snp 759.77 1/1 57 24 0 24 1.0 intronic rs3098676 TMEM161B AU NM_153354 exon4 c.6751-709C>T 0.490415 0.7887 Uncertain 5_87498128_T->A 5 87498128 87498128 T A snp 136.03 1/1 12 5 0 5 1.0 intronic rs3099435 TMEM161B AU NM_153354 exon4 c.6751-650T>A 0.490615 0.7887 Uncertain 5_87498849_G->A 5 87498849 87498849 G A snp 1301.77 1/1 93 47 0 47 1.0 exonic rs3097146 TMEM161B AU synonymous SNV NM_001289007 exon9 c.C844T p.L282L 0.48103 0.7897 0.465401 0.5602 0.7674 Uncertain 5_87502325_G->A 5 87502325 87502325 G A snp 91.77 0/1 33 9 3 6 0.67 intronic rs357515 TMEM161B AU NM_153354 exon6 c.10289+9G>A 0.709065 0.7133 0.5840 0.5449 Uncertain 5_87503088_ACT->- 5 87503088 87503090 ACT - indel 2900.73 1/1 99 53 0 53 1.0 intronic rs34534189 TMEM161B AU NM_153354 exon7 c.10970+91_10970+93delACT 0.482029 0.7897 Uncertain 5_87963272_-->A 5 87963272 87963272 - A indel 1503.73 1/1 99 36 0 36 1.0 ncRNA_exonic rs5869431 LINC00461 AU 0.987819 1 Uncertain 5_87968913_A->- 5 87968913 87968913 A - indel 105.73 0/1 99 95 58 37 0.39 ncRNA_exonic rs758467101 LINC00461 AU Uncertain 5_88416255_-->AC 5 88416255 88416255 - AC indel 350.74 1/1 27 9 0 9 1.0 intergenic rs139453030 MEF2C-AS1 AU Uncertain 5_88416354_C->T 5 88416354 88416354 C T snp 687.77 1/1 51 31 0 31 1.0 intergenic rs9293511 MEF2C-AS1 AU 0.463059 0.5863 0.4224 0.5621 Uncertain 5_89705390_T->A 5 89705390 89705390 T A snp 2944.77 1/1 99 106 0 106 1.0 intronic rs10041922 CETN3 AU NM_004365 exon5 c.15581-71T>A 0.267192 Uncertain 5_89705753_C->- 5 89705753 89705753 C - indel 281.74 1/1 27 9 0 9 1.0 upstream rs11315430 CETN3 AU 0.904752 0.9107 Uncertain 5_89769647_G->A 5 89769647 89769647 G A snp 7431.77 1/1 99 250 0 250 1.0 intronic rs3763072 MBLAC2 AU NM_203406 exon2 c.12672-8G>A 0.372404 0.5288 0.252593 0.4640 0.6088 0.55 T 0.002 P -0.912 T Uncertain 5_89769728_T->C 5 89769728 89769728 T C snp 7138.77 1/1 99 248 0 248 1.0 exonic rs2162986 MBLAC2 AU nonsynonymous SNV NM_203406 exon1 c.A382G p.T128A 0.984026 0.9216 0.999845 0.9948 0.9339 0.64 T 1.000 P -0.959 T 0.0 T 0.0 T Pathogenic 5_89781594_C->T 5 89781594 89781594 C T snp 1459.77 1/1 99 51 0 51 1.0 intronic rs2115500 POLR3G AU NM_006467 exon2 c.117+93C>T 0.785343 0.6448 Uncertain 5_89923667_A->T 5 89923667 89923667 A T snp 56.74 1/1 6 2 0 2 1.0 intronic rs45478296 ADGRV1 AO,AD,AR NM_032119 exon7 c.68881+74A>T 0.239018 0.4018 Uncertain 5_89924976_C->A 5 89924976 89924976 C A snp 343.78 1/1 27 11 0 11 1.0 intronic rs2366771 ADGRV1 AO,AD,AR NM_032119 exon9 c.70314-50C>A 0.790335 0.8343 0.717736 Uncertain 5_89925410_C->T 5 89925410 89925410 C T snp 524.77 0/1 99 25 6 19 0.76 intronic rs56360530 ADGRV1 AO,AD,AR NM_032119 exon9 c.70644+54C>T 0.240415 0.4097 Uncertain 5_89931160_A->- 5 89931160 89931160 A - indel 2336.73 0/1 99 145 82 63 0.43 intronic rs3838659 ADGRV1 AO,AD,AR NM_032119 exon10 c.76395+53delA 0.240415 0.4097 0.173614 Uncertain 5_89938434_G->T 5 89938434 89938434 G T snp 784.77 0/1 99 63 27 36 0.57 intronic rs1344030 ADGRV1 AO,AD,AR NM_032119 exon12 c.83740-18G>T 0.240415 0.4097 0.170175 0.1914 0.4003 CLINSIG=non-pathogenic;CLNDBN=not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000125298.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Uncertain 5_89938587_C->T 5 89938587 89938587 C T snp 3216.73 1/1 99 107 0 107 1.0 intronic rs2366773 ADGRV1 AO,AD,AR NM_032119 exon12 c.83867+8C>T 0.821286 0.8343 0.748637 0.7322 0.8080 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000150756.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 5_89940489_C->G 5 89940489 89940489 C G snp 1124.77 0/1 99 123 74 49 0.4 intronic rs16868901 ADGRV1 AO,AD,AR NM_032119 exon15 c.85810-33C>G 0.240815 0.4107 0.169789 0.1913 0.4012 Uncertain 5_89940771_A->G 5 89940771 89940771 A G snp 77.77 0/1 69 5 2 3 0.6 intronic rs16868903 ADGRV1 AO,AD,AR NM_032119 exon15 c.85974+85A>G 0.240615 0.4107 Uncertain 5_89941743_T->C 5 89941743 89941743 T C snp 197.77 0/1 99 30 22 8 0.27 intronic rs2366776 ADGRV1 AO,AD,AR NM_032119 exon16 c.87072-41T>C 0.249601 0.4018 0.181857 0.2159 0.4043 Uncertain 5_89943433_A->G 5 89943433 89943433 A G snp 3329.77 0/1 99 248 116 132 0.53 exonic rs950692 ADGRV1 AO,AD,AR synonymous SNV NM_032119 exon17 c.A3141G p.A1047A 0.221446 0.379 0.144665 0.1656 0.3562 0.000 P -0.924 T CLINSIG=non-pathogenic;CLNDBN=not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000125300.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Likely benign 5_89943571_G->T 5 89943571 89943571 G T snp 2486.77 1/1 99 77 0 77 1.0 exonic rs2366777 ADGRV1 AO,AD,AR nonsynonymous SNV NM_032119 exon17 c.G3279T p.L1093F 0.810304 0.8323 0.727488 0.7096 0.8023 1 T 1.000 P -0.969 T 0.0 T 0.002 T CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000154363.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 5_89968626_A->T 5 89968626 89968626 A T snp 1737.77 1/1 99 57 0 57 1.0 intronic rs1028191 ADGRV1 AO,AD,AR NM_032119 exon22 c.113827+87A>T 0.809904 0.8343 Uncertain 5_89977183_A->G 5 89977183 89977183 A G snp 1713.77 0/1 99 182 103 79 0.43 exonic rs200974394 ADGRV1 AO,AD,AR nonsynonymous SNV NM_032119 exon27 c.A5576G p.H1859R 0.000599042 0.003 0.000083 0.0002 0.0028 0.12 T 1 D -1.128 T 0.177 T 0.066 T CLINSIG=unknown;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000039594.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 5_89979380_T->C 5 89979380 89979380 T C snp 996.77 0/1 99 62 25 37 0.6 intronic rs4916683 ADGRV1 AO,AD,AR NM_032119 exon28 c.124690-22T>C 0.322684 0.375 0.297217 0.4869 0.5704 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000146080.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 5_89979589_G->A 5 89979589 89979589 G A snp 4277.77 1/1 99 150 0 150 1.0 exonic rs4916684 ADGRV1 AO,AD,AR nonsynonymous SNV NM_032119 exon28 c.G5851A p.V1951I 0.803714 0.8343 0.727520 0.7078 0.8022 0.78 T 1.000 P -1.005 T 0.0 T 0.001 T Pathogenic 5_89979691_A->G 5 89979691 89979691 A G snp 1775.77 0/1 99 128 57 71 0.55 exonic rs41303352 ADGRV1 AO,AD,AR nonsynonymous SNV NM_032119 exon28 c.A5953G p.N1985D 0.276757 0.4335 0.189207 0.1835 0.4042 0.28 T 1.0 P -0.944 T 0.003 T 0.012 T CLINSIG=non-pathogenic;CLNDBN=not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000125262.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Pathogenic 5_89979698_C->T 5 89979698 89979698 C T snp 1563.77 0/1 99 136 75 61 0.45 exonic rs4916685 ADGRV1 AO,AD,AR nonsynonymous SNV NM_032119 exon28 c.C5960T p.P1987L 0.33726 0.375 0.305360 0.3542 0.3852 1 T 1.0 P -0.989 T 0.999 D 0.995 D Pathogenic 5_89979750_G->T 5 89979750 89979750 G T snp 2433.77 0/1 99 190 91 99 0.52 exonic rs16868972 ADGRV1 AO,AD,AR nonsynonymous SNV NM_032119 exon28 c.G6012T p.L2004F 0.313698 0.4335 0.229904 0.2038 0.4027 0.05 T 1.000 P -0.918 T 0.999 D 0.995 D CLINSIG=non-pathogenic;CLNDBN=not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000125263.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Pathogenic 5_89985882_A->G 5 89985882 89985882 A G snp 1158.77 0/1 99 120 72 48 0.4 exonic rs10037067 ADGRV1 AO,AD,AR nonsynonymous SNV NM_032119 exon30 c.A6695G p.Y2232C 0.34984 0.375 0.318097 0.3874 0.4641 0.02 T 1.0 P -0.910 T 0.996 D 0.885 D Pathogenic 5_89987053_A->G 5 89987053 89987053 A G snp 80.77 0/1 69 5 2 3 0.6 intronic rs16868985 ADGRV1 AO,AD,AR NM_032119 exon31 c.132146+195A>G 0.238019 0.4325 Uncertain 5_89988412_G->A 5 89988412 89988412 G A snp 1227.77 0/1 99 91 42 49 0.54 intronic rs10040165 ADGRV1 AO,AD,AR NM_032119 exon32 c.133709-9G>A 0.322085 0.375 0.291779 0.3855 0.4233 Uncertain 5_89988504_A->G 5 89988504 89988504 A G snp 2663.77 0/1 99 250 134 116 0.46 exonic rs2366926 ADGRV1 AO,AD,AR nonsynonymous SNV NM_032119 exon32 c.A7034G p.N2345S 0.322284 0.375 0.291387 0.3729 0.4085 0 D 1.0 P -0.903 T 1.0 D 0.997 D Pathogenic 5_89989779_G->A 5 89989779 89989779 G A snp 794.77 0/1 99 66 36 30 0.45 exonic rs16876822 ADGRV1 AO,AD,AR synonymous SNV NM_032119 exon33 c.G7206A p.E2402E 0.322085 0.375 0.290299 0.3574 0.3855 Uncertain 5_89990324_A->G 5 89990324 89990324 A G snp 7700.77 1/1 99 250 0 250 1.0 exonic rs1878878 ADGRV1 AO,AD,AR nonsynonymous SNV NM_032119 exon33 c.A7751G p.N2584S 0.808506 0.8323 0.731255 0.7090 0.8027 1 T 1.0 P -0.948 T 0.0 T 0.0 T Pathogenic 5_89990545_C->A 5 89990545 89990545 C A snp 2562.77 1/1 99 92 0 92 1.0 intronic rs10068473 ADGRV1 AO,AD,AR NM_032119 exon33 c.135806+27C>A 0.647165 0.8075 0.547391 0.5625 0.7857 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000146083.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 5_89993045_T->C 5 89993045 89993045 T C snp 341.77 0/1 99 32 20 12 0.38 intronic rs10942604 ADGRV1 AO,AD,AR NM_032119 exon34 c.138251+82T>C 0.320487 0.375 Uncertain 5_89999735_G->A 5 89999735 89999735 G A snp 146.77 0/1 99 20 14 6 0.3 intronic rs11959270 ADGRV1 AO,AD,AR NM_032119 exon35 c.144900+123G>A 0.235423 0.4306 Uncertain 5_90001368_T->G 5 90001368 90001368 T G snp 872.77 0/1 99 70 33 37 0.53 exonic rs6880570 ADGRV1 AO,AD,AR synonymous SNV NM_032119 exon37 c.T8538G p.L2846L 0.275359 0.4306 0.191566 0.1825 0.4009 1.0 P -0.965 T CLINSIG=non-pathogenic;CLNDBN=not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000125272.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Likely benign 5_90001988_G->T 5 90001988 90001988 G T snp 1824.77 1/1 99 64 0 64 1.0 intronic rs1160121 ADGRV1 AO,AD,AR NM_032119 exon38 c.147335-59G>T 0.708067 0.8125 Uncertain 5_90002220_-->T 5 90002220 90002220 - T indel 698.73 1/1 48 53 2 51 0.96 intronic rs397817530 ADGRV1 AO,AD,AR NM_032119 exon38 c.147499+9insT 0.4806 0.5156 Uncertain 5_90007196_C->T 5 90007196 90007196 C T snp 758.84 1/1 18 25 2 23 0.92 intronic rs7732169 ADGRV1 AO,AD,AR NM_032119 exon41 c.152427+57C>T 0.663139 0.8234 Uncertain 5_90012614_A->T 5 90012614 90012614 A T snp 185.9 1/1 15 6 0 6 1.0 intronic rs10067181 ADGRV1 AO,AD,AR NM_032119 exon43 c.157834+68A>T 0.664137 0.8234 Uncertain 5_90015792_C->T 5 90015792 90015792 C T snp 2116.77 1/1 99 67 0 67 1.0 intronic rs6881412 ADGRV1 AO,AD,AR NM_032119 exon44 c.161152-72C>T 0.805312 0.8343 Uncertain 5_90016129_A->G 5 90016129 90016129 A G snp 561.77 1/1 42 17 0 17 1.0 intronic rs6452906 ADGRV1 AO,AD,AR NM_032119 exon44 c.161328+89A>G 0.798123 0.8343 Uncertain 5_90016871_G->A 5 90016871 90016871 G A snp 1507.77 0/1 99 138 75 63 0.46 exonic rs16869032 ADGRV1 AO,AD,AR nonsynonymous SNV NM_032119 exon45 c.G9743A p.G3248D 0.221845 0.4286 0.138312 0.1663 0.4009 0.01 T 1.0 P -1.072 T 0.993 D 0.844 D CLINSIG=non-pathogenic;CLNDBN=not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000125275.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Pathogenic 5_90020868_A->C 5 90020868 90020868 A C snp 1284.77 1/1 93 43 1 42 0.98 intronic rs7723259 ADGRV1 AO,AD,AR NM_032119 exon47 c.166190-34A>C 0.798123 0.8343 0.717212 0.7105 0.8035 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000146085.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 5_90020923_T->G 5 90020923 90020923 T G snp 639.77 0/1 99 55 27 28 0.51 exonic rs16869042 ADGRV1 AO,AD,AR synonymous SNV NM_032119 exon47 c.T9927G p.P3309P 0.296271 0.3525 0.3847 1.000 P -0.904 T Likely benign 5_90021292_A->G 5 90021292 90021292 A G snp 412.77 0/1 99 37 18 19 0.51 intronic rs16869043 ADGRV1 AO,AD,AR NM_032119 exon48 c.166653-73A>G 0.20028 0.4296 Uncertain 5_90021499_G->T 5 90021499 90021499 G T snp 185.9 1/1 15 6 0 6 1.0 intronic rs4916815 ADGRV1 AO,AD,AR NM_032119 exon48 c.166761+26G>T 0.602636 0.8115 0.5698 0.7643 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000146065.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 5_90024735_G->A 5 90024735 90024735 G A snp 678.77 1/1 51 21 0 21 1.0 exonic rs2366928 ADGRV1 AO,AD,AR nonsynonymous SNV NM_032119 exon49 c.G10411A p.E3471K 0.829073 0.8155 0.752958 0.7484 0.7844 1 T 1.000 P -0.960 T 0.0 T 0.0 T Pathogenic 5_90052263_-->C 5 90052263 90052263 - C indel 1715.73 0/1 99 138 73 65 0.47 intronic rs34894132 ADGRV1 AO,AD,AR NM_032119 exon56 c.197558-7insC 0.385184 0.4911 0.357540 0.4303 0.4706 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000039512.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 5_90052289_G->A 5 90052289 90052289 G A snp 1501.77 0/1 99 151 79 72 0.48 exonic rs10062026 ADGRV1 AO,AD,AR nonsynonymous SNV NM_032119 exon56 c.G11599A p.E3867K 0.296126 0.4871 0.252900 0.3465 0.4670 0.18 T 1.000 P -0.821 T 0.608 T 0.218 P Pathogenic 5_90052372_C->T 5 90052372 90052372 C T snp 1471.77 0/1 99 127 60 67 0.53 exonic rs2438349 ADGRV1 AO,AD,AR synonymous SNV NM_032119 exon56 c.C11682T p.P3894P 0.539337 0.4911 0.520347 0.4830 0.4695 0.25 T 1.000 P -0.996 T Likely benign 5_90053056_A->G 5 90053056 90053056 A G snp 67.77 0/1 96 14 10 4 0.29 intronic rs2443065 ADGRV1 AO,AD,AR NM_032119 exon57 c.198266+78A>G 0.385982 0.4911 Uncertain 5_90107108_A->G 5 90107108 90107108 A G snp 3293.77 1/1 99 120 0 120 1.0 exonic rs2438374 ADGRV1 AO,AD,AR nonsynonymous SNV NM_032119 exon74 c.A16031G p.E5344G 0.946086 1 0.936124 0.9686 1 0.000 P -0.970 T 0.0 T 0.001 T Pathogenic 5_90111700_T->C 5 90111700 90111700 T C snp 182.9 1/1 15 5 0 5 1.0 intronic rs2443080 ADGRV1 AO,AD,AR NM_032119 exon75 c.256841+147T>C 0.973842 1 Uncertain 5_90119324_G->A 5 90119324 90119324 G A snp 2950.77 1/1 99 108 0 108 1.0 exonic rs2438378 ADGRV1 AO,AD,AR nonsynonymous SNV NM_032119 exon76 c.G16279A p.V5427M 0.972244 1 0.972099 0.9920 1 0.0 P -0.978 T 0.005 T 0.019 T Pathogenic 5_90151589_G->A 5 90151589 90151589 G A snp 2626.77 0/1 99 249 127 122 0.49 exonic rs2247870 ADGRV1 AO,AD,AR nonsynonymous SNV NM_032119 exon82 c.G17626A p.V5876I 0.459065 0.5665 0.434747 0.5393 0.5499 1.000 P -0.916 T 0.576 P 0.178 P Pathogenic 5_90368596_C->T 5 90368596 90368596 C T snp 40.77 0/1 33 3 1 2 0.67 intronic rs9293558 ADGRV1 AO,AD,AR NM_032119 exon86 c.513709+175C>T 0.795727 0.7063 Uncertain 5_90445829_-->TC 5 90445829 90445829 - TC indel 344.82 1/1 17 10 1 9 0.9 intronic rs35858094 ADGRV1 AO,AD,AR NM_032119 exon88 c.591134-17insTC 0.673722 0.7202 0.668732 0.4812 0.4320 Uncertain 5_90449031_T->C 5 90449031 90449031 T C snp 3006.77 1/1 99 114 0 114 1.0 intronic rs7726023 ADGRV1 AO,AD,AR NM_032119 exon89 c.594325-6T>C 0.898363 0.9097 0.916680 0.9264 0.8993 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000154372.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 5_90669400_A->T 5 90669400 90669400 A T snp 139.03 1/1 12 4 0 4 1.0 intronic rs6452952 ARRDC3 AU NM_020801 exon2 c.2284-100A>T 0.992412 0.9623 Uncertain 5_90669771_A->G 5 90669771 90669771 A G snp 238.77 0/1 99 29 18 11 0.38 intronic rs2303130 ARRDC3 AU NM_020801 exon2 c.2439+116A>G 0.0900559 0.1379 Uncertain 5_90671274_A->T 5 90671274 90671274 A T snp 903.77 1/1 66 29 0 29 1.0 intronic rs1363839 ARRDC3 AU NM_020801 exon5 c.4111-53A>T 0.455871 0.5139 Uncertain 5_93077142_C->T 5 93077142 93077142 C T snp 1287.77 0/1 99 109 54 55 0.5 exonic rs181777565 POU5F2 AU nonsynonymous SNV NM_153216 exon1 c.G128A p.R43K 0.00159744 0.0079 0.0005 0.0073 ID=COSM3410476;OCCURENCE=1(central_nervous_system) Pathogenic 5_93119893_G->A 5 93119893 93119893 G A snp 93.28 1/1 9 3 0 3 1.0 intronic rs6879620 FAM172A AU NM_001163418 exon3 c.163396-195G>A 0.845447 0.9514 Uncertain 5_93388778_ATAGATAG->- 5 93388778 93388785 ATAGATAG - indel 2720.73 0/1 99 48 17 31 0.65 intronic rs201319443 FAM172A AU NM_001163418 exon8 c.432138-52_432138-45delATAGATAG Uncertain 5_93410244_C->T 5 93410244 93410244 C T snp 264.77 0/1 99 26 16 10 0.38 intronic rs7732578 FAM172A AU NM_032042 exon10 c.453658-106C>T 0.71885 0.8294 Uncertain 5_93731985_A->G 5 93731985 93731985 A G snp 7025.77 1/1 99 249 0 249 1.0 exonic rs308207 KIAA0825 AU synonymous SNV NM_001145678 exon17 c.T3117C p.S1039S 0.943495 0.9352 0.9984 Uncertain 5_93788579_C->T 5 93788579 93788579 C T snp 96.28 1/1 9 3 0 3 1.0 intronic rs3797203 KIAA0825 AU NM_001145678 exon9 c.298952-84C>T 0.226837 0.4772 Uncertain 5_93812885_C->T 5 93812885 93812885 C T snp 765.77 0/1 99 58 25 33 0.57 exonic rs10057902 KIAA0825 AU synonymous SNV NM_001145678 exon7 c.G1158A p.E386E 0.136581 0.0843 0.103463 0.0830 0.0932 Uncertain 5_93987532_C->A 5 93987532 93987532 C A snp 229.77 0/1 99 25 14 11 0.44 exonic rs6891545 ANKRD32 AU nonsynonymous SNV NM_032290 exon7 c.C864A p.S288R 0.234824 0.3095 0.223418 0.2242 0.3252 1 T 0.0 P -1.075 T 0.0 T 0.0 T Pathogenic 5_93998112_-->TTA 5 93998112 93998112 - TTA indel 1428.73 0/1 99 79 33 46 0.58 intronic rs10684163 ANKRD32 AU NM_032290 exon10 c.33541+56insTTA 0.235423 0.3135 0.210899 Uncertain 5_93998198_C->A 5 93998198 93998198 C A snp 97.77 0/1 99 16 10 6 0.38 intronic rs79055408 ANKRD32 AU NM_032290 exon10 c.33541+142C>A 0.0335463 0.0942 Uncertain 5_94006023_T->C 5 94006023 94006023 T C snp 106.77 0/1 99 13 7 6 0.46 intronic rs7709494 ANKRD32 AU NM_032290 exon13 c.41469+39T>C 0.54972 0.5645 0.5032 0.6010 Uncertain 5_94006794_T->C 5 94006794 94006794 T C snp 34.77 0/1 63 5 3 2 0.4 intronic rs61141017 ANKRD32 AU NM_032290 exon14 c.42198+81T>C 0.0565096 0.0268 Uncertain 5_94022492_TTAG->- 5 94022492 94022495 TTAG - indel 570.73 0/1 99 35 17 18 0.51 intronic rs113089557 ANKRD32 AU NM_032290 exon16 c.57908+69_57908+72delTTAG 0.236022 0.3135 Uncertain 5_94043353_G->T 5 94043353 94043353 G T snp 3682.77 1/1 99 127 0 127 1.0 intronic rs7735924 MCTP1 AU NM_001297777 exon1 c.72+81G>T 0.624601 0.6696 Uncertain 5_94046387_A->G 5 94046387 94046387 A G snp 843.77 1/1 66 25 0 25 1.0 intronic rs306573 MCTP1 AU NM_001297777 exon3 c.3322-135A>G 0.813299 0.9752 Uncertain 5_94050447_C->T 5 94050447 94050447 C T snp 1507.77 0/1 99 152 83 69 0.45 intronic rs2638 MCTP1 AU NM_001297777 exon4 c.7281-34C>T 0.396965 0.4345 0.380440 0.4512 0.4033 Uncertain 5_94050487_T->A 5 94050487 94050487 T A snp 1752.77 0/1 99 163 86 77 0.47 exonic rs2636 MCTP1 AU synonymous SNV NM_001297777 exon17 c.A1794T p.I598I 0.396965 0.4345 0.380517 0.4512 0.4030 Uncertain 5_94114594_T->C 5 94114594 94114594 T C snp 646.77 1/1 51 19 0 19 1.0 intronic rs255372 MCTP1 AU NM_001297777 exon5 c.71614-220T>C 0.947883 0.873 Uncertain 5_94114937_C->G 5 94114937 94114937 C G snp 872.77 0/1 99 73 37 36 0.49 intronic rs76995120 MCTP1 AU NM_001297777 exon5 c.71668+69C>G 0.0397364 0.0248 0.071835 Uncertain 5_94278129_T->C 5 94278129 94278129 T C snp 884.77 0/1 99 86 47 39 0.45 exonic rs293035 MCTP1 AU synonymous SNV NM_001002796 exon4 c.A321G p.V107V 0.262979 0.495 0.233508 0.2493 0.5088 1.000 P -0.918 T Likely benign 5_94278154_C->T 5 94278154 94278154 C T snp 647.77 0/1 99 57 31 26 0.46 intronic rs159351 MCTP1 AU NM_001297777 exon17 c.234931+23C>T 0.275359 0.495 0.244925 0.2536 0.5113 Uncertain 5_94288758_C->T 5 94288758 94288758 C T snp 77.77 0/1 30 4 1 3 0.75 intronic rs17084335 MCTP1 AU NM_001297777 exon18 c.245722-164C>T 0.176717 0.2381 Uncertain 5_94619545_-->C 5 94619545 94619545 - C indel 694.73 1/1 54 18 0 18 1.0 intronic rs397998773 MCTP1 AU NM_024717 exon23 c.576359-14insC 1 1 0.999060 1 1 Uncertain 5_94654187_C->T 5 94654187 94654187 C T snp 1526.77 0/1 99 162 92 70 0.43 intergenic rs255983 MCTP1 AU 0.792931 0.8671 Uncertain 5_94728631_G->T 5 94728631 94728631 G T snp 1250.77 0/1 99 87 40 47 0.54 intronic rs2546097 FAM81B AU NM_152548 exon2 c.1508+30G>T 0.851438 0.8294 0.785046 0.7829 0.8450 Uncertain 5_94741741_C->A 5 94741741 94741741 C A snp 538.77 0/1 99 32 11 21 0.66 intronic rs253714 FAM81B AU NM_152548 exon4 c.22557-7909C>A 0.564497 0.6915 Uncertain 5_94741837_A->G 5 94741837 94741837 A G snp 1866.77 1/1 99 67 0 67 1.0 intronic rs253715 FAM81B AU NM_152548 exon4 c.22557-7813A>G 0.80012 0.8185 Uncertain 5_94741973_T->G 5 94741973 94741973 T G snp 1057.77 1/1 75 37 0 37 1.0 intronic rs253716 FAM81B AU NM_152548 exon4 c.22557-7677T>G 0.794129 0.8185 Uncertain 5_94749723_G->A 5 94749723 94749723 G A snp 1779.77 0/1 99 173 97 76 0.44 exonic rs7726891 FAM81B AU synonymous SNV NM_152548 exon4 c.G366A p.A122A 0.217652 0.1071 0.277571 0.2495 0.1255 Uncertain 5_94749903_-->T 5 94749903 94749903 - T indel 1660.73 0/1 99 127 53 74 0.58 intronic rs11418250 FAM81B AU NM_152548 exon4 c.22801+9insT 0.219649 0.1071 0.287126 0.2552 0.1263 Uncertain 5_94749969_C->G 5 94749969 94749969 C G snp 608.77 0/1 99 38 16 22 0.58 intronic rs6556866 FAM81B AU NM_152548 exon4 c.22801+75C>G 0.219848 0.1071 Uncertain 5_94772540_C->T 5 94772540 94772540 C T snp 5318.77 1/1 99 211 0 211 1.0 exonic rs6878669 FAM81B AU nonsynonymous SNV NM_152548 exon7 c.C823T p.P275S 0.9998 1 0.9999 1 1 T 0.0 P -0.988 T 0.0 T 0.0 T Pathogenic 5_94845231_C->T 5 94845231 94845231 C T snp 1952.77 1/1 99 71 0 71 1.0 intronic rs2560257 TTC37 AR NM_014639 exon15 c.44987-66C>T 0.221845 0.3353 Uncertain 5_94849142_C->T 5 94849142 94849142 C T snp 135.03 1/1 12 4 0 4 1.0 intronic rs2731833 TTC37 AR NM_014639 exon17 c.48964-132C>T 0.222244 0.3353 Uncertain 5_94865777_T->C 5 94865777 94865777 T C snp 1921.77 0/1 99 148 68 80 0.54 intronic TTC37 AR NM_014639 exon33 c.65482-15T>C Uncertain 5_94956619_G->C 5 94956619 94956619 G C snp 1224.77 0/1 99 111 59 52 0.47 exonic rs113272282 GPR150 AU nonsynonymous SNV NM_199243 exon1 c.G640C p.E214Q 0.138578 0.1468 0.079819 0.2771 0.2739 0.5 T 0.000 P -1.104 T 0.124 T 0.042 T Pathogenic 5_94994339_A->G 5 94994339 94994339 A G snp 1864.77 0/1 99 166 86 80 0.48 exonic rs10705 SPATA9 AU synonymous SNV NM_031952 exon5 c.T753C p.N251N 0.127796 0.127 0.155438 0.1925 0.1414 Uncertain 5_95011426_A->G 5 95011426 95011426 A G snp 430.77 0/1 99 25 12 13 0.52 intronic rs2548125 SPATA9 AU NM_031952 exon3 c.17017+83A>G 0.320487 0.2242 Uncertain 5_95018382_G->T 5 95018382 95018382 G T snp 1447.77 0/1 99 125 63 62 0.5 intronic rs34895 SPATA9 AU NM_031952 exon4 c.23994+62G>T 0.268171 0.2252 Uncertain 5_95067987_G->A 5 95067987 95067987 G A snp 1170.77 1/1 84 40 0 40 1.0 intronic rs12656671 RHOBTB3 AU NM_014899 exon2 c.402+199G>A 0.153355 0.4167 Uncertain 5_95084131_G->A 5 95084131 95084131 G A snp 3823.77 1/1 99 152 0 152 1.0 exonic rs34896 RHOBTB3 AU synonymous SNV NM_014899 exon4 c.G510A p.A170A 0.453075 0.6905 0.378364 0.4439 0.7083 Uncertain 5_95091194_C->T 5 95091194 95091194 C T snp 6982.77 1/1 99 250 0 250 1.0 exonic rs34898 RHOBTB3 AU synonymous SNV NM_014899 exon6 c.C777T p.Y259Y 0.453674 0.6895 0.379133 0.4439 0.7098 Uncertain 5_95091201_A->G 5 95091201 95091201 A G snp 7168.77 1/1 99 250 0 250 1.0 exonic rs34899 RHOBTB3 AU nonsynonymous SNV NM_014899 exon6 c.A784G p.N262D 0.47504 0.6895 0.406735 0.4517 0.7101 1 T 0.003 P -0.923 T 0.0 T 0.0 T Pathogenic 5_95152313_A->G 5 95152313 95152313 A G snp 1559.77 0/1 99 132 61 71 0.54 exonic rs4561 GLRX AU synonymous SNV NM_001118890 exon2 c.T225C p.I75I 0.301318 0.1716 0.397201 0.3710 0.1743 Uncertain 5_95152493_T->A 5 95152493 95152493 T A snp 605.77 0/1 99 45 22 23 0.51 intronic rs955688 GLRX AU NM_001243658 exon2 c.114+163T>A 0.20627 0.1716 Uncertain 5_95192776_C->G 5 95192776 95192776 C G snp 224.77 0/1 99 14 5 9 0.64 ncRNA_intronic rs2080947 LINC01554 AU 0.132987 0.0923 Uncertain 5_95194445_G->A 5 95194445 95194445 G A snp 1017.77 0/1 99 65 26 39 0.6 ncRNA_intronic rs57525142 LINC01554 AU 0.209665 0.6627 Uncertain 5_95194571_T->C 5 95194571 95194571 T C snp 4793.77 1/1 99 183 0 183 1.0 ncRNA_exonic rs13168014 LINC01554 AU 0.601438 0.9425 0.5527 0.9134 Uncertain 5_95194593_G->T 5 95194593 95194593 G T snp 1683.77 0/1 99 174 99 75 0.43 ncRNA_exonic rs17085193 LINC01554 AU 0.201278 0.5655 0.051029 0.1050 0.6105 0 D 0.992 P Uncertain 5_95226655_A->G 5 95226655 95226655 A G snp 266.77 0/1 99 17 6 11 0.65 intronic rs6556893 ELL2 AU NM_012081 exon3 c.2232-151A>G 0.366414 0.3522 Uncertain 5_95234350_A->G 5 95234350 95234350 A G snp 818.77 0/1 99 72 40 32 0.44 exonic rs3777204 ELL2 AU synonymous SNV NM_012081 exon8 c.T1119C p.P373P 0.446685 0.4643 0.370675 0.3342 0.4391 Uncertain 5_95234377_C->T 5 95234377 95234377 C T snp 1018.77 0/1 99 72 36 36 0.5 exonic rs3777203 ELL2 AU synonymous SNV NM_012081 exon8 c.G1092A p.P364P 0.364617 0.4325 0.313336 0.2904 0.4080 Uncertain 5_95234392_A->C 5 95234392 95234392 A C snp 1286.77 0/1 99 84 37 47 0.56 exonic rs3777202 ELL2 AU synonymous SNV NM_012081 exon8 c.T1077G p.S359S 0.385383 0.4325 0.334795 0.2954 0.4032 Uncertain 5_95234630_G->T 5 95234630 95234630 G T snp 155.77 0/1 99 14 7 7 0.5 intronic rs3777201 ELL2 AU NM_012081 exon5 c.9940+116G>T 0.365415 0.4315 Uncertain 5_95236415_G->A 5 95236415 95236415 G A snp 1121.77 0/1 99 81 34 47 0.58 exonic rs17085249 ELL2 AU synonymous SNV NM_012081 exon7 c.C936T p.D312D 0.340655 0.4325 0.288328 0.2835 0.4070 Uncertain 5_95236459_C->T 5 95236459 95236459 C T snp 959.77 0/1 99 74 36 38 0.51 exonic rs3815768 ELL2 AU nonsynonymous SNV NM_012081 exon7 c.G892A p.A298T 0.341653 0.4325 0.291096 0.2822 0.4063 1 T 1.000 P -0.919 T 0.0 T 0.003 T ID=CM155064;DIS=Multiple myeloma, association with;TAG=DP;PUB=26007630 DP Pathogenic 5_95255379_G->A 5 95255379 95255379 G A snp 273.77 0/1 99 14 5 9 0.64 intronic rs4642392 ELL2 AU NM_012081 exon10 c.30675+130G>A 0.452077 0.4643 Uncertain 5_95278679_G->A 5 95278679 95278679 G A snp 454.77 0/1 99 45 24 21 0.47 intronic rs3734131 ELL2 AU NM_012081 exon11 c.54131-26G>A 0.313698 0.3919 0.267799 0.2389 0.3794 Uncertain 5_95728898_C->G 5 95728898 95728898 C G snp 3137.77 0/1 99 250 127 123 0.49 exonic rs6235 PCSK1 AU,AO nonsynonymous SNV NM_000439 exon14 c.G2069C p.S690T 0.24381 0.3591 0.237660 0.2653 0.3096 0.56 T 0.000 P -1.051 T 0.003 T 0.004 T ID=CM1311914;DIS=Obesity-related traits, association with;TAG=DP;PUB=24140494 DP Pathogenic 5_95728974_G->C 5 95728974 95728974 G C snp 2033.77 0/1 99 202 115 87 0.43 exonic rs6234 PCSK1 AU,AO nonsynonymous SNV NM_000439 exon14 c.C1993G p.Q665E 0.259185 0.3591 0.249577 0.2688 0.3085 1 T 0.0 P -1.002 T 0.0 T 0.0 T ID=CM132638;DIS=Reduced specific activity;TAG=FP;PUB=23383060 FP Pathogenic 5_95747964_CTC->- 5 95747964 95747966 CTC - indel 1760.73 0/1 99 74 40 34 0.46 ncRNA_intronic rs35364611 LOC101929710 AU 0.234625 0.3056 Uncertain 5_95751549_A->G 5 95751549 95751549 A G snp 37.77 0/1 66 4 2 2 0.5 ncRNA_intronic rs10515237 LOC101929710 AU 0.277756 0.3105 Uncertain 5_95761433_A->- 5 95761433 95761433 A - indel 716.73 1/1 79 34 1 33 0.97 ncRNA_intronic rs11310306 LOC101929710 AU 0.56849 0.5933 Uncertain 5_95765079_T->G 5 95765079 95765079 T G snp 88.77 0/1 33 6 2 4 0.67 ncRNA_intronic rs79000322 LOC101929710 AU 0.0345447 0.1567 ID=COSN167521;OCCURENCE=1(large_intestine) Uncertain 5_95767703_C->T 5 95767703 95767703 C T snp 418.77 0/1 99 39 19 20 0.51 ncRNA_intronic rs3792746 LOC101929710 AU 0.0499201 0.0546 Uncertain 5_95768847_A->G 5 95768847 95768847 A G snp 270.77 0/1 99 13 5 8 0.62 ncRNA_intronic rs6230 LOC101929710 AU 0.251797 0.2768 Uncertain 5_95865500_T->C 5 95865500 95865500 T C snp 43.77 0/1 72 5 3 2 0.4 ncRNA_intronic rs13186522 LOC101929710 AU 0.571685 0.5427 0.5942 0.6212 Uncertain 5_95865526_G->A 5 95865526 95865526 G A snp 121.77 0/1 99 10 5 5 0.5 ncRNA_intronic rs13161802 LOC101929710 AU 0.563898 0.5427 0.5999 0.6308 0 D 0.0 P -0.925 T Uncertain 5_96219739_TATC->- 5 96219739 96219742 TATC - indel 159.77 0/1 21 20 1 19 0.95 intronic rs575511794 ERAP2 AU NM_001130140 exon3 c.4245+105_4245+108delTATC 0.423123 0.3889 Uncertain 5_96222627_G->A 5 96222627 96222627 G A snp 428.77 1/1 33 12 0 12 1.0 intronic rs13189819 ERAP2 AU NM_001130140 exon4 c.7104+134G>A 0.553115 0.5248 Uncertain 5_96230883_-->TT 5 96230883 96230883 - TT indel 296.75 1/1 24 8 0 8 1.0 intronic rs371137761 ERAP2 AU NM_001130140 exon7 c.15560-66insTT 0.551318 0.5268 Uncertain 5_96231000_G->T 5 96231000 96231000 G T snp 4313.77 1/1 99 165 0 165 1.0 exonic rs2549782 ERAP2 AU nonsynonymous SNV NM_022350 exon7 c.G1176T p.K392N 0.552716 0.5278 0.540981 0.5476 0.5876 1 T 1.0 P -1.043 T 0.0 T 0.001 T ID=CM0911417;DIS=Preeclampsia, association with;TAG=DFP;PUB=19578876 DFP Pathogenic 5_96232142_T->A 5 96232142 96232142 T A snp 3835.77 1/1 99 148 0 148 1.0 exonic rs2548538 ERAP2 AU synonymous SNV NM_022350 exon8 c.T1305A p.P435P 0.552716 0.5278 0.540904 0.5479 0.5878 Uncertain 5_96232222_G->C 5 96232222 96232222 G C snp 3336.77 1/1 99 117 0 117 1.0 intronic rs2548537 ERAP2 AU NM_001130140 exon8 c.16819+14G>C 0.552716 0.5278 0.540674 0.5468 0.5858 Uncertain 5_96232250_-->AAA 5 96232250 96232250 - AAA indel 4970.73 1/1 99 78 0 78 1.0 intronic rs34701361 ERAP2 AU NM_001130140 exon8 c.16819+42insAAA 0.552716 0.5278 0.536390 0.5388 0.5746 Uncertain 5_96232286_C->T 5 96232286 96232286 C T snp 1451.77 1/1 99 45 0 45 1.0 intronic rs2549785 ERAP2 AU NM_001130140 exon8 c.16819+78C>T 0.552716 0.5278 Uncertain 5_96232346_AT->- 5 96232346 96232347 AT - indel 553.73 1/1 33 11 0 11 1.0 intronic rs56321917 ERAP2 AU NM_001130140 exon9 c.17046-89_17046-88delAT 0.503195 0.5278 Uncertain 5_96232402_T->A 5 96232402 96232402 T A snp 192.78 1/1 15 10 0 10 1.0 intronic rs2548536 ERAP2 AU NM_001130140 exon9 c.17046-33T>A 0.547923 0.5278 0.547471 0.5473 0.5886 Uncertain 5_96235896_A->G 5 96235896 96235896 A G snp 3104.77 1/1 99 124 0 124 1.0 splicing rs2248374 ERAP2 AU NM_001130140 exon10 c.20504+3A>G 0.552716 0.5278 0.541212 0.5476 0.5882 Pathogenic 5_96237114_C->G 5 96237114 96237114 C G snp 1232.77 1/1 90 42 0 42 1.0 intronic rs187265 ERAP2 AU NM_001130140 exon11 c.21820-95C>G Uncertain 5_96237326_G->A 5 96237326 96237326 G A snp 2508.77 1/1 99 97 0 97 1.0 exonic rs2287988 ERAP2 AU synonymous SNV NM_022350 exon11 c.G1689A p.Q563Q 0.552915 0.5278 0.541212 0.5478 0.5882 Uncertain 5_96237413_C->T 5 96237413 96237413 C T snp 523.77 1/1 39 19 0 19 1.0 intronic rs171647 ERAP2 AU NM_001130140 exon11 c.21996+28C>T 0.552915 0.5278 0.540289 0.5489 0.5847 Uncertain 5_96239294_A->G 5 96239294 96239294 A G snp 2331.77 1/1 99 83 0 83 1.0 intronic rs1423568 ERAP2 AU NM_001130140 exon13 c.23875+30A>G 0.552915 0.5278 0.541058 0.5489 0.5889 Uncertain 5_96244549_C->T 5 96244549 96244549 C T snp 347.78 1/1 27 10 0 10 1.0 intronic rs2549794 ERAP2 AU NM_001130140 exon14 c.29275-115C>T 0.659744 0.6577 Uncertain 5_96244585_A->C 5 96244585 96244585 A C snp 746.77 1/1 54 25 0 25 1.0 intronic rs2548527 ERAP2 AU NM_001130140 exon14 c.29275-79A>C Uncertain 5_96244638_A->G 5 96244638 96244638 A G snp 3413.77 1/1 99 108 0 108 1.0 intronic rs2549795 ERAP2 AU NM_001130140 exon14 c.29275-26A>G 0.553315 0.5278 0.541058 0.5494 0.5886 Uncertain 5_96245343_C->T 5 96245343 96245343 C T snp 3210.76 1/1 99 126 0 126 1.0 exonic rs2549796 ERAP2 AU synonymous SNV NM_022350 exon15 c.C2229T p.G743G 0.504593 0.5278 0.491312 0.5330 0.5861 Uncertain 5_96245439_C->T 5 96245439 96245439 C T snp 1961.77 1/1 99 61 0 61 1.0 exonic rs1056893 ERAP2 AU synonymous SNV NM_022350 exon15 c.C2325T p.S775S 0.552516 0.5278 0.541596 0.5484 0.5870 Uncertain 5_96245518_A->G 5 96245518 96245518 A G snp 434.31 0/1 1 17 1 16 0.94 intronic rs2549797 ERAP2 AU NM_001130140 exon15 c.30079+50A>G 0.553115 0.5278 0.540065 0.5405 0.5734 Uncertain 5_96245617_T->C 5 96245617 96245617 T C snp 48.74 1/1 6 2 0 2 1.0 intronic rs2548526 ERAP2 AU NM_001130140 exon15 c.30079+149T>C 0.553115 0.5278 Uncertain 5_96249115_C->T 5 96249115 96249115 C T snp 5680.77 1/1 99 213 0 213 1.0 exonic rs2255546 ERAP2 AU synonymous SNV NM_022350 exon17 c.C2611T p.L871L 0.552716 0.5258 0.541596 0.5488 0.5860 0.000 P -0.973 T Likely benign 5_96249323_G->A 5 96249323 96249323 G A snp 48.74 1/1 6 2 0 2 1.0 intronic rs2255633 ERAP2 AU NM_001130140 exon17 c.33772+162G>A 0.552716 0.5258 Uncertain 5_96332086_C->- 5 96332086 96332086 C - indel 9038.73 1/1 99 250 0 250 1.0 intronic rs3836862 LNPEP AU NM_005575 exon7 c.60234-7delC 0.608027 0.6071 0.6129 0.6581 Uncertain 5_96339103_C->- 5 96339103 96339103 C - indel 189.87 1/1 15 5 0 5 1.0 intronic rs3214461 LNPEP AU NM_005575 exon9 c.67259-15delC 0.504992 0.497 0.6307 0.6578 Uncertain 5_96339273_T->G 5 96339273 96339273 T G snp 1665.77 1/1 99 65 0 65 1.0 intronic rs27613 LNPEP AU NM_005575 exon9 c.67391+23T>G 0.544441 0.5726 0.6548 Uncertain 5_96342078_A->- 5 96342078 96342078 A - indel 221.73 1/1 35 13 0 13 1.0 intronic rs3835054 LNPEP AU NM_005575 exon11 c.70271-52delA 0.557508 0.5635 Uncertain 5_96349304_G->T 5 96349304 96349304 G T snp 40.77 0/1 69 20 15 5 0.25 intronic rs377219067 LNPEP AU NM_005575 exon12 c.77492-47G>T Uncertain 5_96350710_G->A 5 96350710 96350710 G A snp 4336.77 1/1 99 162 0 162 1.0 exonic rs2303138 LNPEP AU nonsynonymous SNV NM_005575 exon13 c.G2287A p.A763T 0.162141 0.3958 0.073120 0.1295 0.4632 0.31 T 1.000 P -0.700 T 0.621 T 0.593 P ID=CM140396;DIS=Psoriasis, increased risk, association with;TAG=DP;PUB=23897274 DP Pathogenic 5_96363407_C->T 5 96363407 96363407 C T snp 4919.77 1/1 99 181 0 181 1.0 intronic rs27300 LNPEP AU NM_005575 exon17 c.91577-29C>T 0.602236 0.6022 0.586191 0.6066 0.6501 Uncertain 5_96364063_C->T 5 96364063 96364063 C T snp 3869.77 1/1 99 140 0 140 1.0 intronic rs27712 LNPEP AU NM_005575 exon18 c.92246-42C>T 0.709065 0.6587 0.659157 0.6560 0.7065 Uncertain 5_96498783_G->A 5 96498783 96498783 G A snp 735.77 0/1 99 43 13 30 0.7 exonic rs8654 RIOK2 AU synonymous SNV NM_018343 exon10 c.C1641T p.A547A 0.554313 0.5208 0.572901 0.5867 0.5303 1.000 P Uncertain 5_96503523_C->T 5 96503523 96503523 C T snp 2926.77 0/1 99 250 127 123 0.49 exonic rs160632 RIOK2 AU nonsynonymous SNV NM_001159749 exon8 c.G1045A p.G349R 0.557708 0.5208 0.574197 0.5864 0.5290 0.55 T 0.0 P -1.003 T 0.0 T 0.0 T Pathogenic 5_96504390_A->T 5 96504390 96504390 A T snp 117.77 0/1 99 9 4 5 0.56 intronic RIOK2 AU NM_018343 exon4 c.5699-73A>T Uncertain 5_96509055_G->A 5 96509055 96509055 G A snp 64.77 0/1 93 18 13 5 0.28 intronic rs316194 RIOK2 AU NM_018343 exon6 c.10203+88G>A 0.341454 0.4792 Uncertain 5_96512865_T->A 5 96512865 96512865 T A snp 985.77 0/1 99 71 31 40 0.56 exonic rs2548319 RIOK2 AU synonymous SNV NM_001159749 exon4 c.A453T p.L151L 0.691494 0.6429 0.712440 0.6814 0.6562 Uncertain 5_96512871_T->A 5 96512871 96512871 T A snp 1014.77 0/1 99 73 32 41 0.56 exonic rs2544772 RIOK2 AU synonymous SNV NM_001159749 exon4 c.A447T p.S149S 0.691494 0.6429 0.712440 0.6814 0.6561 Uncertain 5_96513471_G->C 5 96513471 96513471 G C snp 1987.77 0/1 99 191 101 90 0.47 exonic rs2544773 RIOK2 AU nonsynonymous SNV NM_001159749 exon3 c.C287G p.S96C 0.341254 0.4782 0.307704 0.3972 0.4870 0 D 1.000 P -0.977 T 1.0 D 0.984 D Pathogenic 5_96514982_G->A 5 96514982 96514982 G A snp 136.03 1/1 12 4 0 4 1.0 intronic rs6896160 RIOK2 AU NM_018343 exon9 c.16133+85G>A 0.9373 0.9286 Uncertain 5_96518792_T->G 5 96518792 96518792 T G snp 2854.77 0/1 99 250 134 116 0.46 intronic rs3734010 RIOK2 AU NM_018343 exon10 c.20065-37T>G 0.520966 0.6181 0.480932 0.5157 0.6183 0 D 0.000 P -0.925 T Uncertain 5_96519094_A->G 5 96519094 96519094 A G snp 1569.77 1/1 99 46 0 46 1.0 upstream rs3806945 RIOK2 AU 0.938299 0.9325 Uncertain 5_96519496_A->G 5 96519496 96519496 A G snp 56.74 1/1 6 3 0 3 1.0 upstream rs3806946 RIOK2 AU Uncertain 5_98109828_G->A 5 98109828 98109828 G A snp 551.77 0/1 99 58 31 27 0.47 exonic rs2547973 RGMB AU synonymous SNV NM_001012761 exon3 c.G177A p.E59E 0.294928 0.2956 0.4488 0.325 Uncertain 5_98109838_A->C 5 98109838 98109838 A C snp 1361.77 1/1 99 54 0 54 1.0 exonic rs2662263 RGMB AU nonsynonymous SNV NM_001012761 exon3 c.A187C p.S63R 0.992412 1 0.9860 1 0.64 T 0.000 P -0.981 T 0.0 T 0.0 T Pathogenic 5_98109985_G->A 5 98109985 98109985 G A snp 35.77 0/1 64 8 6 2 0.25 intronic rs2545730 RGMB AU NM_001012761 exon3 c.3538+75G>A 0.437899 0.6657 Uncertain 5_98115828_A->G 5 98115828 98115828 A G snp 266.77 0/1 99 43 30 13 0.3 intronic rs2302983 RGMB AU NM_001012761 exon4 c.9420+36A>G 0.126198 0.1647 0.090157 0.1286 0.1476 Uncertain 5_98225078_T->C 5 98225078 98225078 T C snp 80.77 0/1 69 5 2 3 0.6 intronic rs370234345 CHD1 AU NM_001270 exon21 c.32859+136T>C Uncertain 5_99871292_C->T 5 99871292 99871292 C T snp 1545.77 0/1 99 152 83 69 0.45 exonic rs763084163 FAM174A AU synonymous SNV NM_198507 exon1 c.C58T p.L20L 3.443e-05 0.0001 Uncertain 5_101592742_T->C 5 101592742 101592742 T C snp 719.77 1/1 54 21 0 21 1.0 intronic rs174414 SLCO4C1 AU NM_180991 exon6 c.20257-76T>C 0.646965 0.7024 Uncertain 5_101592809_T->A 5 101592809 101592809 T A snp 2635.77 1/1 99 96 0 96 1.0 intronic rs261101 SLCO4C1 AU NM_180991 exon6 c.20257-9T>A 0.75639 0.7173 0.740351 0.7403 0.7040 Uncertain 5_101593486_C->A 5 101593486 101593486 C A snp 62.74 1/1 6 4 0 4 1.0 intronic rs398228 SLCO4C1 AU NM_180991 exon7 c.21085-160C>A 0.75639 0.7173 Uncertain 5_101593487_T->G 5 101593487 101593487 T G snp 62.74 1/1 6 4 0 4 1.0 intronic rs416734 SLCO4C1 AU NM_180991 exon7 c.21085-159T>G 0.75639 0.7173 Uncertain 5_101595831_C->T 5 101595831 101595831 C T snp 272.77 0/1 99 20 7 13 0.65 intronic rs386464 SLCO4C1 AU NM_180991 exon8 c.23355-85C>T 0.398762 0.5228 Uncertain 5_101595885_-->GA 5 101595885 101595885 - GA indel 1313.73 1/1 90 31 0 31 1.0 intronic rs148885155 SLCO4C1 AU NM_180991 exon8 c.23355-31insGA 0.782149 0.7173 0.7540 0.7 Uncertain 5_101606518_-->A 5 101606518 101606518 - A indel 654.73 1/1 72 37 0 37 1.0 intronic rs33922930 SLCO4C1 AU NM_180991 exon11 c.33949+8insA 0.7169 0.6798 Uncertain 5_101627027_T->C 5 101627027 101627027 T C snp 755.77 0/1 99 75 43 32 0.43 intronic rs841929 SLCO4C1 AU NM_180991 exon12 c.54485-19T>C 0.557907 0.5516 0.487160 0.4488 0.5566 Uncertain 5_101631526_C->G 5 101631526 101631526 C G snp 338.77 0/1 99 30 16 14 0.47 intronic rs3114660 SLCO4C1 AU NM_180991 exon13 c.59050-85C>G 0.560104 0.5516 Uncertain 5_101631592_A->G 5 101631592 101631592 A G snp 2642.77 1/1 99 96 0 96 1.0 intronic rs3114659 SLCO4C1 AU NM_180991 exon13 c.59050-19A>G 0.748602 0.7302 0.716054 0.7206 0.7267 Uncertain 5_101724448_G->C 5 101724448 101724448 G C snp 295.77 0/1 99 48 32 16 0.33 exonic rs10055840 SLCO6A1 AU nonsynonymous SNV NM_001289004 exon11 c.C1775G p.T592R 0.204073 0.1706 0.234339 0.2575 0.1629 0.56 T 0.0 P -1.092 T 0.027 T 0.089 T Pathogenic 5_101724618_C->T 5 101724618 101724618 C T snp 188.77 0/1 99 42 32 10 0.24 intronic rs73774686 SLCO6A1 AU NM_173488 exon3 c.15474+89C>T 0.0311502 0.0228 Uncertain 5_101726648_C->A 5 101726648 101726648 C A snp 220.77 0/1 99 22 13 9 0.41 intronic rs6874612 SLCO6A1 AU NM_173488 exon4 c.17629-36C>A 0.585463 0.4613 0.649823 0.6396 0.4650 Uncertain 5_101726851_A->G 5 101726851 101726851 A G snp 171.77 0/1 99 19 11 8 0.42 intronic rs1452065 SLCO6A1 AU NM_173488 exon4 c.17694+102A>G 0.585463 0.4613 Uncertain 5_101755879_C->T 5 101755879 101755879 C T snp 86.77 0/1 30 4 1 3 0.75 intronic rs896546 SLCO6A1 AU NM_173488 exon7 c.46670+154C>T 0.585663 0.4593 Uncertain 5_101795490_A->G 5 101795490 101795490 A G snp 1145.77 0/1 99 70 19 51 0.73 intronic rs11746217 SLCO6A1 AU NM_173488 exon10 c.86426+9A>G 0.586462 0.4613 0.666385 0.6410 0.4663 Uncertain 5_101811346_T->C 5 101811346 101811346 T C snp 335.77 0/1 99 26 13 13 0.5 intronic rs4703232 SLCO6A1 AU NM_173488 exon11 c.102345-54T>C 0.579872 0.4613 Uncertain 5_101813238_T->C 5 101813238 101813238 T C snp 42.77 0/1 33 3 1 2 0.67 intronic rs10041525 SLCO6A1 AU NM_173488 exon12 c.104324-141T>C 0.579673 0.4603 Uncertain 5_102310166_G->A 5 102310166 102310166 G A snp 1133.77 0/1 99 119 70 49 0.41 intronic rs3733939 PAM AU NM_000919 exon14 c.108241+26G>A 0.403554 0.4871 0.419499 0.3629 0.4645 Uncertain 5_102360747_A->C 5 102360747 102360747 A C snp 386.77 0/1 99 32 17 15 0.47 intronic rs17296280 PAM AU NM_000919 exon23 c.158935-87A>C 0.240216 0.3661 Uncertain 5_102363858_C->T 5 102363858 102363858 C T snp 1697.77 1/1 99 59 0 59 1.0 intronic rs26433 PAM AU NM_000919 exon24 c.161986-27C>T 0.658347 0.5506 0.633400 0.7018 0.5686 Uncertain 5_102364542_-->AT 5 102364542 102364542 - AT indel 2509.73 1/1 99 46 0 46 1.0 intronic rs2067133 PAM AU NM_000919 exon25 c.162691-48insAT 0.767572 0.5536 0.755353 0.7351 0.5664 Uncertain 5_102423754_C->T 5 102423754 102423754 C T snp 1125.77 0/1 99 111 56 55 0.5 exonic rs782602777 GIN1 AU nonsynonymous SNV NM_017676 exon8 c.G1417A p.D473N 1.657e-05 0 0 D 0.990 N -1.030 T 0.009 T 0.002 T Pathogenic 5_102494751_A->G 5 102494751 102494751 A G snp 40.77 0/1 69 5 3 2 0.4 intronic PPIP5K2 AU NM_015216 exon16 c.29556-98A>G 0.392572 0.4931 Uncertain 5_102512570_-->A 5 102512570 102512570 - A indel 2294.73 1/1 99 55 0 55 1.0 exonic rs11408825 PPIP5K2 AU unknown 1 1 0.9998 1 Uncertain 5_103978969_T->C 5 103978969 103978969 T C snp 1080.77 1/1 81 35 0 35 1.0 intergenic rs33818 NUDT12 AU 0.913938 0.8135 Uncertain 5_106717206_C->T 5 106717206 106717206 C T snp 120.77 0/1 69 7 3 4 0.57 intronic EFNA5 AU NM_001962 exon1 c.122+129C>T Uncertain 5_106723107_-->T 5 106723107 106723107 - T indel 260.73 0/1 99 36 17 19 0.53 intronic rs11377163 EFNA5 AU NM_001962 exon2 c.6061+91insT 0.257188 0.3829 Uncertain 5_107006446_T->G 5 107006446 107006446 T G snp 668.77 1/1 51 18 0 18 1.0 UTR5 rs35553 EFNA5 AU 0.969848 1 Uncertain 5_107197699_G->C 5 107197699 107197699 G C snp 110.77 0/1 99 8 4 4 0.5 intronic FBXL17 AU NM_001163315 exon1 c.141+138G>C Uncertain 5_107216627_A->C 5 107216627 107216627 A C snp 283.77 0/1 99 19 8 11 0.58 intronic rs774020789 FBXL17 AU NM_001163315 exon2 c.19317-110A>C 0.0004 0.0160 1 T 1 N Uncertain 5_107522013_A->G 5 107522013 107522013 A G snp 1438.77 1/1 99 46 0 46 1.0 intronic rs76228838 FBXL17 AU NM_001163315 exon4 c.324528+65A>G 0.139577 0.4117 Uncertain 5_107684324_C->T 5 107684324 107684324 C T snp 1352.77 1/1 99 33 0 33 1.0 intronic rs1862195 FBXL17 AU NM_001163315 exon6 c.486811+93C>T 0.723243 0.7103 Uncertain 5_108516619_T->- 5 108516619 108516619 T - indel 1171.73 0/1 99 89 27 62 0.7 intronic rs149896807 FER AU NM_005246 exon18 c.382719+17delT 0.0467252 0.0972 0.047524 0.0601 0.1064 Uncertain 5_108516629_A->G 5 108516629 108516629 A G snp 2081.77 1/1 99 73 1 72 0.99 intronic rs6594349 FER AU NM_005246 exon18 c.382719+27A>G 0.7498 0.5992 0.800292 0.7648 0.5793 Uncertain 5_108521893_T->C 5 108521893 108521893 T C snp 656.77 0/1 99 112 79 33 0.29 intronic rs78007324 FER AU NM_005246 exon19 c.388017-7T>C 0.163938 0.1567 0.161104 0.1418 0.1294 Uncertain 5_108673125_G->A 5 108673125 108673125 G A snp 298.77 0/1 99 29 14 15 0.52 intronic rs3749669 PJA2 AU NM_014819 exon1 c.126+68G>A 0.230431 0.381 Uncertain 5_108679870_-->TTAA 5 108679870 108679870 - TTAA indel 1153.73 1/1 54 18 0 18 1.0 intronic rs10623655 PJA2 AU NM_014819 exon2 c.6959-20insTTAA 0.718251 0.4425 0.7354 0.4774 Uncertain 5_108680647_C->A 5 108680647 108680647 C A snp 34.77 0/1 63 7 5 2 0.29 intronic rs441798 PJA2 AU NM_014819 exon3 c.7589+127C>A 0.319888 0.0565 Uncertain 5_108691738_A->T 5 108691738 108691738 A T snp 833.77 0/1 99 52 18 34 0.65 intronic rs2431253 PJA2 AU NM_014819 exon4 c.18796+11A>T 0.378794 0.0575 0.563750 0.5557 0.0472 Uncertain 5_108713970_C->T 5 108713970 108713970 C T snp 6440.77 1/1 99 213 0 213 1.0 exonic rs10042721 PJA2 AU synonymous SNV NM_014819 exon4 c.G1218A p.E406E 0.680112 0.4355 0.774839 0.6984 0.3815 Uncertain 5_108713982_T->C 5 108713982 108713982 T C snp 3189.78 0/1 99 244 122 122 0.5 exonic rs12523186 PJA2 AU synonymous SNV NM_014819 exon4 c.A1206G p.A402A 0.32508 0.0565 0.445017 0.4998 0.0444 Uncertain 5_108714298_T->C 5 108714298 108714298 T C snp 2985.77 0/1 99 250 134 116 0.46 exonic rs1045706 PJA2 AU nonsynonymous SNV NM_014819 exon4 c.A890G p.Q297R 0.320887 0.0565 0.444479 0.4965 0.0443 0.85 T 0.000 P -0.921 T 0.001 T 0.001 T Pathogenic 5_108719151_G->A 5 108719151 108719151 G A snp 1257.77 0/1 99 117 63 54 0.46 UTR5 rs1045704 PJA2 AU 0.319688 0.0565 0.444709 0.4965 0.0443 Uncertain 5_109049507_C->G 5 109049507 109049507 C G snp 500.77 0/1 99 36 14 22 0.61 intronic rs12657204 MAN2A1 AU NM_002372 exon2 c.23357+32C>G 0.272564 0.6181 0.130575 0.2260 0.5148 Uncertain 5_109052086_A->G 5 109052086 109052086 A G snp 667.77 0/1 99 46 21 25 0.54 intronic rs17638392 MAN2A1 AU NM_002372 exon3 c.25847+121A>G 0.277756 0.621 Uncertain 5_109106337_C->T 5 109106337 109106337 C T snp 639.77 0/1 99 42 20 22 0.52 intronic rs545587512 MAN2A1 AU NM_002372 exon7 c.80124+95C>T 0.000199681 0.001 Uncertain 5_109110537_T->A 5 109110537 109110537 T A snp 1942.77 0/1 99 181 88 93 0.51 exonic rs6894260 MAN2A1 AU synonymous SNV NM_002372 exon8 c.T1245A p.R415R 0.336062 0.2609 0.413411 0.3117 0.2525 Uncertain 5_109117171_A->G 5 109117171 109117171 A G snp 2197.77 0/1 99 238 138 100 0.42 exonic rs13189822 MAN2A1 AU synonymous SNV NM_002372 exon9 c.A1449G p.Q483Q 0.278754 0.6151 0.138111 0.2369 0.6521 Uncertain 5_109117339_T->G 5 109117339 109117339 T G snp 689.77 0/1 99 48 27 21 0.44 intronic rs45502798 MAN2A1 AU NM_002372 exon9 c.91181+40T>G 0.0161741 0.0407 0.000154 0.0098 0.0543 Uncertain 5_109125072_C->G 5 109125072 109125072 C G snp 101.28 1/1 9 4 0 4 1.0 intronic rs2112212 MAN2A1 AU NM_002372 exon12 c.99042-88C>G 0.79353 0.9444 Uncertain 5_109152874_TATATGTATATG->- 5 109152874 109152885 TATATGTATATG - indel 606.8 1/1 18 6 0 6 1.0 intronic rs10524185 MAN2A1 AU NM_002372 exon13 c.126855-99_126855-88delTATATGTATATG 0.395966 0.506 Uncertain 5_109181682_A->T 5 109181682 109181682 A T snp 7050.77 1/1 99 245 1 244 1.0 exonic rs3186988 MAN2A1 AU synonymous SNV NM_002372 exon18 c.A2817T p.S939S 0.746805 0.8819 0.700323 0.6546 0.9058 Uncertain 5_109183341_G->T 5 109183341 109183341 G T snp 1242.77 0/1 99 130 75 55 0.42 intronic rs11241041 MAN2A1 AU NM_002372 exon19 c.157239-16G>T 0.271565 0.6131 0.121787 0.3061 0.6546 Uncertain 5_109190936_CTC->- 5 109190936 109190938 CTC - indel 5629.73 0/1 99 231 112 119 0.52 exonic rs3217225 MAN2A1 AU nonframeshift deletion NM_002372 exon20 c.3072_3074del p.1024_1025del 0.267971 0.6062 0.157668 0.2327 0.6398 Uncertain 5_109200553_A->C 5 109200553 109200553 A C snp 382.77 0/1 99 30 15 15 0.5 intronic rs12656073 MAN2A1 AU NM_002372 exon21 c.174618-183A>C 0.272165 0.6091 Uncertain 5_110407507_C->T 5 110407507 110407507 C T snp 585.77 0/1 99 49 26 23 0.47 UTR5 rs2289276 TSLP AU 0.289537 0.2827 ID=CR105185;DIS=Bronchial asthma, association with;TAG=DFP;PUB=20656951 DFP Uncertain 5_110408705_C->T 5 110408705 110408705 C T snp 946.77 0/1 99 79 44 35 0.44 intronic rs11466741 TSLP AU NM_033035 exon2 c.1042+75C>T 0.334864 0.2798 0.289750 Uncertain 5_110409067_C->G 5 110409067 110409067 C G snp 498.77 0/1 99 30 10 20 0.67 intronic rs2289277 TSLP AU NM_033035 exon3 c.1620-141C>G 0.476038 0.3542 Uncertain 5_110434307_G->A 5 110434307 110434307 G A snp 164.78 0/1 24 7 1 6 0.86 intronic rs13153937 WDR36 AU NM_139281 exon4 c.6433-112G>A 0.299521 0.3472 Uncertain 5_110436450_C->T 5 110436450 110436450 C T snp 379.77 0/1 99 33 17 16 0.48 intronic rs10038177 WDR36 AU NM_139281 exon5 c.8434+30C>T 0.582268 0.4226 0.526494 0.5243 0.3865 Uncertain 5_110438000_-->A 5 110438000 110438000 - A indel 64.73 0/1 99 27 18 9 0.33 intronic rs35339070 WDR36 AU NM_139281 exon6 c.10057-43insA 0.4042 0.4051 Uncertain 5_110439509_A->G 5 110439509 110439509 A G snp 914.77 0/1 99 81 41 40 0.49 exonic rs11241095 WDR36 AU nonsynonymous SNV NM_139281 exon7 c.A790G p.I264V 0.257388 0.2728 0.238535 0.3185 0.2465 0 D 0.757 P -0.923 T 0.0 T 0.0 T ID=CM075046;DIS=Glaucoma, primary open angle, association with;TAG=DP;PUB=17960130 DP Pathogenic 5_110443228_C->T 5 110443228 110443228 C T snp 255.77 0/1 99 14 5 9 0.64 intronic rs10043631 WDR36 AU NM_139281 exon12 c.15152+90C>T 0.575679 0.4226 Uncertain 5_110446091_G->A 5 110446091 110446091 G A snp 109.77 0/1 99 13 8 5 0.38 intronic rs34962120 WDR36 AU NM_139281 exon13 c.18016+89G>A 0.256589 0.2688 Uncertain 5_110446741_C->A 5 110446741 110446741 C A snp 817.77 0/1 99 59 30 29 0.49 intronic rs13161853 WDR36 AU NM_139281 exon14 c.18666+89C>A 0.547524 0.4117 Uncertain 5_110448753_T->A 5 110448753 110448753 T A snp 35.77 0/1 64 8 6 2 0.25 intronic rs59359951 WDR36 AU NM_139281 exon16 c.20786-19T>A 0.457867 0.4177 0.022591 0.0953 0.1145 Uncertain 5_110454681_A->G 5 110454681 110454681 A G snp 1670.77 0/1 99 147 80 67 0.46 intronic rs17553936 WDR36 AU NM_139281 exon17 c.26724-29A>G 0.261981 0.2768 0.243231 0.3214 0.2484 Uncertain 5_110456704_A->T 5 110456704 110456704 A T snp 431.77 0/1 99 48 29 19 0.4 exonic rs13186912 WDR36 AU synonymous SNV NM_139281 exon19 c.A2181T p.V727V 0.259185 0.2788 0.239304 0.3208 0.2476 Uncertain 5_110560413_C->T 5 110560413 110560413 C T snp 418.77 0/1 99 22 6 16 0.73 intronic rs2290679 CAMK4 AU NM_001744 exon1 c.161+71C>T 0.0225639 0.0942 Uncertain 5_110679657_C->G 5 110679657 110679657 C G snp 2508.77 1/1 99 90 0 90 1.0 intronic rs446176 CAMK4 AU NM_001744 exon2 c.119540-64C>G 0.914137 1 Uncertain 5_110710360_G->C 5 110710360 110710360 G C snp 1209.77 1/1 90 32 0 32 1.0 intronic rs306067 CAMK4 AU NM_001744 exon3 c.150366-187G>C 0.969649 1 Uncertain 5_110710699_-->G 5 110710699 110710699 - G indel 4909.73 1/1 99 132 0 132 1.0 intronic rs397740681 CAMK4 AU NM_001744 exon3 c.150429+89insG 0.918131 1 Uncertain 5_110712491_A->G 5 110712491 110712491 A G snp 1327.77 1/1 96 44 0 44 1.0 intronic rs306129 CAMK4 AU NM_001744 exon4 c.152376-66A>G 0.959665 1 Uncertain 5_110712773_C->T 5 110712773 110712773 C T snp 629.77 0/1 99 40 18 22 0.55 intronic rs3797754 CAMK4 AU NM_001744 exon4 c.152459+133C>T 0.102636 0.2321 Uncertain 5_110712852_G->A 5 110712852 110712852 G A snp 83.77 0/1 63 5 2 3 0.6 intronic rs3797753 CAMK4 AU NM_001744 exon4 c.152459+212G>A 0.376398 0.4643 Uncertain 5_110730557_C->T 5 110730557 110730557 C T snp 2208.77 1/1 99 76 0 76 1.0 intronic rs523389 CAMK4 AU NM_001744 exon5 c.170299+77C>T 0.947684 0.9901 Uncertain 5_110782274_C->A 5 110782274 110782274 C A snp 228.77 0/1 97 10 3 7 0.7 intronic rs3797739 CAMK4 AU NM_001744 exon6 c.222202-109C>A 0.590855 0.5298 Uncertain 5_110784822_A->G 5 110784822 110784822 A G snp 871.77 0/1 99 99 53 46 0.46 splicing rs2116824 CAMK4 AU NM_001744 exon7 c.224645-4A>G 0.601038 0.5308 0.699708 0.7254 0.5529 Pathogenic 5_110819753_G->C 5 110819753 110819753 G C snp 368.77 0/1 99 38 22 16 0.42 exonic rs25925 CAMK4 AU synonymous SNV NM_001744 exon11 c.G1011C p.S337S 0.733027 0.5268 0.841101 0.7600 0.5534 ID=CM146152;DIS=Autism spectrum disorder, increased risk;TAG=DP;PUB=24442360 DP Uncertain 5_111013615_A->G 5 111013615 111013615 A G snp 432.77 0/1 99 37 20 17 0.46 ncRNA_intronic rs75516321 STARD4-AS1 AU 0.0746805 0.2004 Uncertain 5_111013858_G->A 5 111013858 111013858 G A snp 1464.77 1/1 99 53 0 53 1.0 ncRNA_intronic rs26042 STARD4-AS1 AU 0.808107 0.9246 Uncertain 5_111070525_G->A 5 111070525 111070525 G A snp 286.77 0/1 99 37 24 13 0.35 ncRNA_exonic STARD4-AS1 AU Uncertain 5_111479750_T->C 5 111479750 111479750 T C snp 519.77 1/1 39 17 0 17 1.0 intergenic rs62372418 NREP-AS1 AU 0.885184 0.999 Uncertain 5_111496598_G->T 5 111496598 111496598 G T snp 3095.77 0/1 99 249 121 128 0.51 ncRNA_exonic rs17134162 EPB41L4A-AS1 AU 0.13738 0.2361 0.059571 Uncertain 5_111497330_C->A 5 111497330 111497330 C A snp 1788.77 0/1 99 200 123 77 0.39 ncRNA_intronic rs2290990 EPB41L4A-AS1 AU 0.30611 0.2649 0.273980 0.2230 0.2632 Uncertain 5_111497358_T->G 5 111497358 111497358 T G snp 2793.77 0/1 99 183 66 117 0.64 ncRNA_intronic rs3816657 EPB41L4A-AS1 AU 0.523562 0.7341 0.441925 0.5602 0.7374 Uncertain 5_111500816_-->TAAAA 5 111500816 111500816 - TAAAA indel 3876.73 1/1 99 79 0 79 1.0 splicing rs145708081 EPB41L4A AU NM_022140 exon1 c.129+1insTAAAA 0.969313 0.5853 0.2647 Pathogenic 5_111500824_T->C 5 111500824 111500824 T C snp 1672.77 1/1 99 57 0 57 1.0 intronic rs78027176 EPB41L4A AU NM_022140 exon1 c.129+9T>C 0.0621006 0.0516 6.478e-05 0 Uncertain 5_111504479_C->T 5 111504479 111504479 C T snp 6526.77 1/1 99 230 0 230 1.0 exonic rs7703522 EPB41L4A AU nonsynonymous SNV NM_022140 exon22 c.G1889A p.R630H 0.856829 0.998 0.715619 0.7422 0.9987 0.04 T 0.935 P -0.967 T 1.0 D 0.996 D Pathogenic 5_111505885_T->G 5 111505885 111505885 T G snp 947.77 1/1 69 28 0 28 1.0 intronic rs1560052 EPB41L4A AU NM_022140 exon4 c.5311-112T>G 0.854832 0.998 Uncertain 5_111506069_G->A 5 111506069 111506069 G A snp 2542.77 1/1 99 92 0 92 1.0 splicing rs10040749 EPB41L4A AU NM_022140 exon4 c.5380+3G>A 0.854832 0.998 0.707700 0.7387 0.9987 Pathogenic 5_111519639_T->C 5 111519639 111519639 T C snp 1775.77 0/1 99 124 52 72 0.58 intronic rs3797319 EPB41L4A AU NM_022140 exon6 c.19026-73T>C 0.053115 0.1319 Uncertain 5_111519740_T->C 5 111519740 111519740 T C snp 7166.77 1/1 99 250 0 250 1.0 exonic rs1560058 EPB41L4A AU nonsynonymous SNV NM_022140 exon18 c.A1595G p.N532S 0.745008 0.9871 0.655433 0.7349 0.9908 1 T 0.101 P -0.933 T 0.0 T 0.0 T Pathogenic 5_111530284_A->G 5 111530284 111530284 A G snp 1964.77 1/1 99 69 0 69 1.0 exonic rs7719346 EPB41L4A AU nonsynonymous SNV NM_022140 exon17 c.T1483C p.Y495H 0.876997 0.998 0.764066 0.7869 0.9990 1 T 0.000 P -0.947 T 0.0 T 0.0 T Pathogenic 5_111545670_C->G 5 111545670 111545670 C G snp 934.77 1/1 66 38 0 38 1.0 exonic rs890757 EPB41L4A AU nonsynonymous SNV NM_022140 exon13 c.G1097C p.S366T 0.761182 0.9871 0.676223 0.7410 0.9907 0.59 T 0.003 P -0.967 T 0.006 T 0.005 T Pathogenic 5_111600400_C->G 5 111600400 111600400 C G snp 56.74 1/1 6 2 0 2 1.0 intronic rs4457123 EPB41L4A AU NM_022140 exon18 c.99906-192C>G 0.249002 0.3244 Uncertain 5_111611076_A->G 5 111611076 111611076 A G snp 311.77 0/1 99 40 27 13 0.33 exonic rs12521830 EPB41L4A AU synonymous SNV NM_022140 exon4 c.T282C p.F94F 0.322684 0.3413 0.369524 0.3758 0.4453 Uncertain 5_112162854_T->C 5 112162854 112162854 T C snp 3907.77 1/1 99 150 0 150 1.0 exonic rs2229992 APC AU,AD synonymous SNV NM_000038 exon12 c.T1458C p.Y486Y 0.509984 0.6647 0.462165 0.5780 0.6791 CLINSIG=non-pathogenic|other|non-pathogenic;CLNDBN=not_specified|Familial_colorectal_cancer|Hereditary_cancer-predisposing_syndrome;CLNREVSTAT=criteria_provided\x2c_single_submitter|no_assertion_criteria_provided|criteria_provided\x2c_single_submitter;CLNACC=RCV000035064.5|RCV000074147.1|RCV000131423.2;CLNDSDB=MedGen|MedGen:OMIM|MedGen:SNOMED_CT;CLNDSDBID=CN169374|CN029768:114500|C0027672:699346009 ID=COSM1432175;OCCURENCE=2(large_intestine),1(thyroid) Uncertain 5_112164561_G->A 5 112164561 112164561 G A snp 1463.77 1/1 99 57 0 57 1.0 exonic rs351771 APC AU,AD synonymous SNV NM_000038 exon14 c.G1635A p.A545A 0.666134 0.8165 0.586435 0.6481 0.8230 CLINSIG=non-pathogenic|other|non-pathogenic;CLNDBN=not_specified|Familial_colorectal_cancer|Hereditary_cancer-predisposing_syndrome;CLNREVSTAT=criteria_provided\x2c_single_submitter|no_assertion_criteria_provided|criteria_provided\x2c_single_submitter;CLNACC=RCV000035066.5|RCV000074153.1|RCV000162371.1;CLNDSDB=MedGen|MedGen:OMIM|MedGen:SNOMED_CT;CLNDSDBID=CN169374|CN029768:114500|C0027672:699346009 ID=COSM3760868;OCCURENCE=1(large_intestine) Uncertain 5_112175770_G->A 5 112175770 112175770 G A snp 6886.77 1/1 99 250 0 250 1.0 exonic rs41115 APC AU,AD synonymous SNV NM_000038 exon16 c.G4479A p.T1493T 0.665535 0.8165 0.586218 0.6486 0.8227 CLINSIG=non-pathogenic|other|non-pathogenic;CLNDBN=not_specified|Familial_colorectal_cancer|Hereditary_cancer-predisposing_syndrome;CLNREVSTAT=criteria_provided\x2c_single_submitter|no_assertion_criteria_provided|criteria_provided\x2c_single_submitter;CLNACC=RCV000035071.5|RCV000074234.1|RCV000162372.1;CLNDSDB=MedGen|MedGen:OMIM|MedGen:SNOMED_CT;CLNDSDBID=CN169374|CN029768:114500|C0027672:699346009 ID=COSM3760869;OCCURENCE=2(large_intestine) Uncertain 5_112176325_G->A 5 112176325 112176325 G A snp 4689.77 1/1 99 167 0 167 1.0 exonic rs42427 APC AU,AD synonymous SNV NM_000038 exon16 c.G5034A p.G1678G 0.666733 0.8165 0.590126 0.6514 0.8236 CLINSIG=non-pathogenic|other|non-pathogenic;CLNDBN=not_specified|Familial_colorectal_cancer|Hereditary_cancer-predisposing_syndrome;CLNREVSTAT=criteria_provided\x2c_single_submitter|no_assertion_criteria_provided|criteria_provided\x2c_single_submitter;CLNACC=RCV000035074.5|RCV000074235.1|RCV000162373.1;CLNDSDB=MedGen|MedGen:OMIM|MedGen:SNOMED_CT;CLNDSDBID=CN169374|CN029768:114500|C0027672:699346009 ID=COSM3760870;OCCURENCE=1(large_intestine) Uncertain 5_112176559_T->G 5 112176559 112176559 T G snp 6434.77 1/1 99 235 1 234 1.0 exonic rs866006 APC AU,AD synonymous SNV NM_000038 exon16 c.T5268G p.S1756S 0.666933 0.8165 0.587986 0.6508 0.8223 CLINSIG=probable-non-pathogenic,non-pathogenic|other|non-pathogenic;CLNDBN=Hereditary_cancer-predisposing_syndrome,not_specified|Familial_colorectal_cancer|Hereditary_cancer-predisposing_syndrome;CLNREVSTAT=criteria_provided\x2c_single_submitter,criteria_provided\x2c_single_submitter|no_assertion_criteria_provided|criteria_provided\x2c_single_submitter;CLNACC=RCV000166360.1,RCV000035076.5|RCV000074236.1|RCV000162374.1;CLNDSDB=MedGen:SNOMED_CT,MedGen|MedGen:OMIM|MedGen:SNOMED_CT;CLNDSDBID=C0027672:699346009,CN169374|CN029768:114500|C0027672:699346009 Uncertain 5_112176756_T->A 5 112176756 112176756 T A snp 2880.77 1/1 99 98 0 98 1.0 exonic rs459552 APC AU,AD nonsynonymous SNV NM_000038 exon16 c.T5465A p.V1822D 0.865415 0.9008 0.826257 0.7981 0.9018 0.019 P -0.947 T 0.0 T 0.0 T CLINSIG=non-pathogenic|non-pathogenic|non-pathogenic|other|non-pathogenic;CLNDBN=Familial_adenomatous_polyposis_1|not_provided|not_specified|Familial_colorectal_cancer|Hereditary_cancer-predisposing_syndrome;CLNREVSTAT=no_assertion_criteria_provided|no_assertion_criteria_provided|criteria_provided\x2c_single_submitter|no_assertion_criteria_provided|criteria_provided\x2c_single_submitter;CLNACC=RCV000020089.2|RCV000034393.1|RCV000035078.6|RCV000074239.1|RCV000132160.2;CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet|MedGen|MedGen|MedGen:OMIM|MedGen:SNOMED_CT;CLNDSDBID=NBK1345:C2713442:175100:ORPHA733|CN221809|CN169374|CN029768:114500|C0027672:699346009 ID=COSM3760871;OCCURENCE=1(large_intestine) ID=CM990164;DIS=Adenomatous polyposis coli, association with;TAG=DP;PUB=9950360 DP Pathogenic 5_112177171_G->A 5 112177171 112177171 G A snp 6890.77 1/1 99 238 0 238 1.0 exonic rs465899 APC AU,AD synonymous SNV NM_000038 exon16 c.G5880A p.P1960P 0.666534 0.8165 0.586910 0.6488 0.8224 CLINSIG=non-pathogenic|other|non-pathogenic;CLNDBN=not_specified|Familial_colorectal_cancer|Hereditary_cancer-predisposing_syndrome;CLNREVSTAT=criteria_provided\x2c_single_submitter|no_assertion_criteria_provided|criteria_provided\x2c_single_submitter;CLNACC=RCV000035080.5|RCV000074242.1|RCV000162375.1;CLNDSDB=MedGen|MedGen:OMIM|MedGen:SNOMED_CT;CLNDSDBID=CN169374|CN029768:114500|C0027672:699346009 ID=COSM3760872;OCCURENCE=2(large_intestine) Uncertain 5_112178178_G->A 5 112178178 112178178 G A snp 1358.77 0/1 99 125 73 52 0.42 exonic APC AU,AD nonsynonymous SNV NM_000038 exon16 c.G6887A p.S2296N 0.938 D -0.599 T 0.0 T 0.005 T ID=COSM1580517;OCCURENCE=1(haematopoietic_and_lymphoid_tissue) Pathogenic 5_112196949_A->C 5 112196949 112196949 A C snp 2043.77 1/1 99 70 0 70 1.0 UTR5 rs460137 SRP19 AU 0.471246 0.6766 Uncertain 5_112197986_A->T 5 112197986 112197986 A T snp 136.03 1/1 12 4 0 4 1.0 intronic rs431287 SRP19 AU NM_003135 exon2 c.1131-218A>T 0.689696 0.8234 Uncertain 5_112198015_A->G 5 112198015 112198015 A G snp 172.9 1/1 15 6 0 6 1.0 intronic rs372492 SRP19 AU NM_003135 exon2 c.1131-189A>G 0.694489 0.8234 Uncertain 5_112198072_AGG->- 5 112198072 112198074 AGG - indel 1710.73 1/1 90 30 0 30 1.0 intronic rs112093457 SRP19 AU NM_003135 exon2 c.1131-132_1131-130delAGG 0.604433 0.8234 Uncertain 5_112200098_A->G 5 112200098 112200098 A G snp 311.78 1/1 24 9 0 9 1.0 intronic rs351767 SRP19 AU NM_003135 exon3 c.3080-55A>G 0.573882 0.6587 0.568112 0.6524 0.6745 Uncertain 5_112312676_T->C 5 112312676 112312676 T C snp 6797.77 1/1 99 244 0 244 1.0 exonic rs33555 DCP2 AU nonsynonymous SNV NM_001242377 exon1 c.T46C p.F16L 1 1 1 1 1 T 1.0 P -0.962 T 0.0 T 0.0 T Pathogenic 5_112328377_A->G 5 112328377 112328377 A G snp 2766.77 1/1 99 101 0 101 1.0 exonic rs3733969 DCP2 AU synonymous SNV NM_001242377 exon4 c.A342G p.L114L 0.76877 0.7629 0.778530 0.7585 0.7893 1.0 P -1.028 T Likely benign 5_112343544_G->A 5 112343544 112343544 G A snp 57.74 1/1 6 4 0 4 1.0 intronic rs2052484 DCP2 AU NM_152624 exon9 c.31004-90G>A 0.782947 0.7768 Uncertain 5_112346432_G->- 5 112346432 112346432 G - indel 645.73 1/1 66 22 0 22 1.0 intronic rs58980024 DCP2 AU NM_152624 exon10 c.33822-20delG 0.00439297 0.3699 0.4210 Uncertain 5_112349070_T->C 5 112349070 112349070 T C snp 4972.77 1/1 99 186 0 186 1.0 exonic rs9326869 DCP2 AU synonymous SNV NM_001242377 exon10 c.T1047C p.A349A 0.784145 0.7817 0.787911 0.7559 0.7975 1.000 P Uncertain 5_112364945_A->G 5 112364945 112364945 A G snp 416.77 1/1 33 14 0 14 1.0 intronic rs1363333 MCC AU NM_001085377 exon2 c.1755+192A>G 0.519369 0.5903 Uncertain 5_112379083_A->G 5 112379083 112379083 A G snp 957.77 1/1 72 34 0 34 1.0 intronic rs4627978 MCC AU NM_001085377 exon3 c.16228-143A>G 0.88778 1 Uncertain 5_112379095_T->C 5 112379095 112379095 T C snp 1038.77 1/1 75 36 0 36 1.0 intronic rs4277906 MCC AU NM_001085377 exon3 c.16228-131T>C 0.94369 1 Uncertain 5_112379289_G->A 5 112379289 112379289 G A snp 5576.77 1/1 99 207 0 207 1.0 exonic rs2227948 MCC AU synonymous SNV NM_001085377 exon17 c.C2694T p.A898A 0.487619 0.5302 0.6357 Uncertain 5_112379434_T->A 5 112379434 112379434 T A snp 1905.77 1/1 99 54 0 54 1.0 intronic rs4705755 MCC AU NM_001085377 exon3 c.16329+107T>A 0.492812 0.5952 Uncertain 5_112384802_G->A 5 112384802 112384802 G A snp 3995.77 1/1 99 147 0 147 1.0 exonic rs6594664 MCC AU synonymous SNV NM_001085377 exon16 c.C2643T p.D881D 0.863419 0.9405 0.857659 0.9420 0.9481 Uncertain 5_112385004_C->G 5 112385004 112385004 C G snp 2224.77 1/1 99 76 0 76 1.0 intronic rs7726296 MCC AU NM_001085377 exon4 c.21998+8C>G 0.513578 0.5456 0.002083 0.5736 0.6255 Uncertain 5_112385005_A->C 5 112385005 112385005 A C snp 2266.77 1/1 99 75 0 75 1.0 intronic rs7726162 MCC AU NM_001085377 exon4 c.21998+9A>C 0.514976 0.5466 0.5695 0.6226 Uncertain 5_112385035_T->G 5 112385035 112385035 T G snp 1665.77 1/1 99 59 0 59 1.0 intronic rs7708603 MCC AU NM_001085377 exon4 c.21998+39T>G 0.469671 0.5585 0.6156 Uncertain 5_112389293_T->C 5 112389293 112389293 T C snp 738.77 1/1 57 20 0 20 1.0 intronic rs4295378 MCC AU NM_001085377 exon5 c.26423-128T>C 0.984824 1 Uncertain 5_112389747_C->G 5 112389747 112389747 C G snp 1558.77 1/1 99 56 0 56 1.0 intronic rs4705536 MCC AU NM_001085377 exon5 c.26658+91C>G 0.941893 1 Uncertain 5_112399791_G->A 5 112399791 112399791 G A snp 3535.77 1/1 99 134 0 134 1.0 exonic rs2227947 MCC AU synonymous SNV NM_001085377 exon14 c.C2103T p.N701N 0.513379 0.6349 0.495694 0.6034 0.6684 Uncertain 5_112406718_A->G 5 112406718 112406718 A G snp 1116.77 1/1 81 39 0 39 1.0 intronic rs4705771 MCC AU NM_001085377 exon8 c.43792-72A>G 0.994808 1 Uncertain 5_112437714_G->A 5 112437714 112437714 G A snp 443.77 0/1 99 45 27 18 0.4 intronic rs28673913 MCC AU NM_001085377 exon12 c.74644+72G>A 0.0794728 0.121 Uncertain 5_112439941_T->C 5 112439941 112439941 T C snp 1806.77 1/1 99 70 0 70 1.0 exonic rs6594681 MCC AU nonsynonymous SNV NM_001085377 exon7 c.A1139G p.K380R 0.994609 1 0.993387 0.9981 1 0.64 T 0.000 P -0.963 T 0.0 T 0.0 T Pathogenic 5_112440142_T->C 5 112440142 112440142 T C snp 308.77 0/1 99 20 8 12 0.6 intronic rs6869399 MCC AU NM_001085377 exon13 c.77054+90T>C 0.451677 0.3304 Uncertain 5_112479004_T->C 5 112479004 112479004 T C snp 4547.77 1/1 99 168 0 168 1.0 exonic rs2227949 MCC AU synonymous SNV NM_001085377 exon5 c.A795G p.T265T 0.994209 1 0.994925 0.9984 0.9997 Uncertain 5_112487137_A->C 5 112487137 112487137 A C snp 2763.77 1/1 99 94 0 94 1.0 intronic rs1947026 MCC AU NM_001085377 exon16 c.124121+18A>C 0.661941 0.7758 0.657644 0.6921 0.8001 Uncertain 5_112823998_C->T 5 112823998 112823998 C T snp 2052.77 0/1 99 212 116 96 0.45 exonic rs348943 MCC AU synonymous SNV NM_001085377 exon1 c.G114A p.E38E 0.502995 0.6726 0.426644 0.4945 0.6944 Uncertain 5_112824039_T->C 5 112824039 112824039 T C snp 4381.77 1/1 99 166 0 166 1.0 exonic rs348942 MCC AU nonsynonymous SNV NM_001085377 exon1 c.A73G p.S25G 0.75599 0.8631 0.617221 0.6447 0.7518 0.23 T 0.0 P -1.034 T 0.0 T 0.0 T Pathogenic 5_112824048_-->GCC 5 112824048 112824048 - GCC indel 1757.73 0/1 99 138 43 95 0.69 exonic rs35336557 MCC AU nonframeshift insertion NM_001085377 exon1 c.63_64insGGC p.S22delinsGS 0.332069 0.5208 0.1800 0.1814 ID=COSM1486215;OCCURENCE=1(breast) Uncertain 5_112849801_A->C 5 112849801 112849801 A C snp 863.77 0/1 99 69 30 39 0.57 intronic rs1862315 YTHDC2 AU NM_022828 exon1 c.187+22A>C 0.332468 0.2083 0.316202 0.2864 0.2190 Uncertain 5_112849823_C->T 5 112849823 112849823 C T snp 743.77 0/1 99 58 25 33 0.57 intronic rs2416281 YTHDC2 AU NM_022828 exon1 c.187+44C>T 0.202276 0.1002 0.194453 0.1999 0.1018 Uncertain 5_112851109_A->G 5 112851109 112851109 A G snp 118.77 0/1 99 15 7 8 0.53 intronic rs1820057 YTHDC2 AU NM_022828 exon2 c.1467+50A>G 0.33147 0.2083 0.312904 0.2639 0.1985 Uncertain 5_112851121_C->T 5 112851121 112851121 C T snp 122.77 0/1 99 15 7 8 0.53 intronic rs1035408 YTHDC2 AU NM_022828 exon2 c.1467+62C>T 0.570088 0.3145 Uncertain 5_112853189_T->C 5 112853189 112853189 T C snp 1464.77 0/1 99 135 75 60 0.44 intronic rs1833678 YTHDC2 AU NM_022828 exon2 c.1467+2130T>C 0.202077 0.1012 Uncertain 5_112868693_C->A 5 112868693 112868693 C A snp 1636.77 0/1 99 172 101 71 0.41 exonic rs6594732 YTHDC2 AU synonymous SNV NM_022828 exon5 c.C793A p.R265R 0.333067 0.2093 0.321286 0.2641 0.1984 Uncertain 5_112868878_A->G 5 112868878 112868878 A G snp 31.77 0/1 60 8 6 2 0.25 intronic rs6594733 YTHDC2 AU NM_022828 exon5 c.19150+136A>G 0.333466 0.2093 Uncertain 5_112870235_C->G 5 112870235 112870235 C G snp 77.77 0/1 99 6 3 3 0.5 intronic rs10040203 YTHDC2 AU NM_022828 exon6 c.20512+131C>G 0.340855 0.2083 Uncertain 5_112874987_C->G 5 112874987 112874987 C G snp 52.77 0/1 36 6 2 4 0.67 intronic rs4334877 YTHDC2 AU NM_022828 exon8 c.25286+109C>G 0.307308 0.2073 Uncertain 5_112876584_C->A 5 112876584 112876584 C A snp 86.77 0/1 28 4 1 3 0.75 intronic rs3936061 YTHDC2 AU NM_022828 exon9 c.27072-80C>A 0.313099 0.2073 Uncertain 5_112884197_C->G 5 112884197 112884197 C G snp 574.77 0/1 99 59 32 27 0.46 intronic rs4444963 YTHDC2 AU NM_022828 exon11 c.34645-40C>G 0.57508 0.3244 0.645708 0.5386 0.3106 Uncertain 5_112884380_G->A 5 112884380 112884380 G A snp 749.77 0/1 99 78 46 32 0.41 intronic rs6889574 YTHDC2 AU NM_022828 exon11 c.34772+16G>A 0.333866 0.2083 0.316133 0.2525 0.1983 Uncertain 5_112884594_A->G 5 112884594 112884594 A G snp 340.77 0/1 99 42 26 16 0.38 intronic rs6889501 YTHDC2 AU NM_022828 exon12 c.35059-57A>G 0.334864 0.2133 0.311569 Uncertain 5_112884728_G->A 5 112884728 112884728 G A snp 388.77 0/1 99 58 39 19 0.33 intronic rs4639215 YTHDC2 AU NM_022828 exon12 c.35125+11G>A 0.57488 0.3244 0.644000 0.5301 0.3057 Uncertain 5_112884752_G->A 5 112884752 112884752 G A snp 235.77 0/1 99 39 28 11 0.28 intronic rs6594734 YTHDC2 AU NM_022828 exon12 c.35125+35G>A 0.335863 0.2083 0.313733 0.2504 0.1965 Uncertain 5_112888882_A->T 5 112888882 112888882 A T snp 913.77 0/1 99 45 18 27 0.6 exonic rs72805422 YTHDC2 AU nonsynonymous SNV NM_022828 exon13 c.A1693T p.T565S 0.328275 0.2083 0.288392 0.0600 0.0582 0.87 T 0.000 P -0.958 T 0.001 T 0.002 T Pathogenic 5_112889065_G->A 5 112889065 112889065 G A snp 1192.77 0/1 99 91 47 44 0.48 intronic rs60871281 YTHDC2 AU NM_022828 exon13 c.39464+9G>A 0.328474 0.2083 0.308568 0.2536 0.1978 Uncertain 5_112889374_G->A 5 112889374 112889374 G A snp 2910.77 0/1 99 250 123 127 0.51 exonic rs10071816 YTHDC2 AU nonsynonymous SNV NM_022828 exon14 c.G1955A p.S652N 0.333866 0.2083 0.316287 0.2512 0.1980 1 T 0.0 P -0.945 T 0.0 T 0.002 T Pathogenic 5_112889567_TCT->- 5 112889567 112889569 TCT - indel 816.73 0/1 99 58 38 20 0.34 intronic rs34947411 YTHDC2 AU NM_022828 exon15 c.39959+16_39959+18delTCT 0.328275 0.2083 0.308216 0.2477 0.1954 Uncertain 5_112889608_T->A 5 112889608 112889608 T A snp 253.77 0/1 99 39 28 11 0.28 intronic rs10079758 YTHDC2 AU NM_022828 exon16 c.40046-30T>A 0.328275 0.2083 0.306253 0.2517 0.1988 Uncertain 5_112899250_G->A 5 112899250 112899250 G A snp 50.77 0/1 79 16 13 3 0.19 intronic rs6886199 YTHDC2 AU NM_022828 exon19 c.49597+61G>A 0.420128 0.2302 Uncertain 5_112899702_A->G 5 112899702 112899702 A G snp 2497.77 0/1 99 223 119 104 0.47 exonic rs6886628 YTHDC2 AU synonymous SNV NM_022828 exon20 c.A2589G p.T863T 0.331869 0.2004 0.316210 0.2510 0.1955 Uncertain 5_112899876_G->A 5 112899876 112899876 G A snp 908.77 0/1 99 82 46 36 0.44 intronic rs11241214 YTHDC2 AU NM_022828 exon20 c.50236+48G>A 0.333267 0.2004 0.315020 0.2501 0.1955 Uncertain 5_112901494_G->C 5 112901494 112901494 G C snp 1275.77 0/1 99 84 35 49 0.58 intronic rs3763139 YTHDC2 AU NM_022828 exon21 c.51997-95G>C 0.580671 0.3185 Uncertain 5_112917278_T->G 5 112917278 112917278 T G snp 2900.77 0/1 99 250 127 123 0.49 exonic rs11748794 YTHDC2 AU synonymous SNV NM_022828 exon25 c.T3519G p.S1173S 0.205871 0.1002 0.204399 0.1931 0.0856 Uncertain 5_112919941_G->A 5 112919941 112919941 G A snp 659.77 0/1 99 54 29 25 0.46 intronic rs2288449 YTHDC2 AU NM_022828 exon26 c.70406-57G>A 0.324281 0.2024 Uncertain 5_112926982_A->G 5 112926982 112926982 A G snp 677.77 0/1 99 47 21 26 0.55 intronic rs2303717 YTHDC2 AU NM_022828 exon27 c.77349+41A>G 0.573283 0.3185 0.646486 0.5307 0.3050 Uncertain 5_112927900_A->T 5 112927900 112927900 A T snp 200.77 0/1 99 19 11 8 0.42 intronic rs73242858 YTHDC2 AU NM_022828 exon28 c.78283+25A>T 0.184704 0.1121 0.2417 0.1624 Uncertain 5_112928865_G->T 5 112928865 112928865 G T snp 71.77 0/1 99 9 6 3 0.33 intronic rs3763138 YTHDC2 AU NM_022828 exon29 c.79407-134G>T 0.355431 0.2014 Uncertain 5_112929013_T->A 5 112929013 112929013 T A snp 1311.77 0/1 99 126 67 59 0.47 exonic rs1132528 YTHDC2 AU nonsynonymous SNV NM_022828 exon29 c.T4226A p.L1409Q 0.570887 0.3175 0.640265 0.5271 0.3049 1 T 1.0 P -0.949 T 0.0 T 0.001 T Pathogenic 5_113698544_G->C 5 113698544 113698544 G C snp 6308.77 1/1 99 243 2 241 0.99 exonic rs40179 KCNN2 AU synonymous SNV NM_021614 exon1 c.G72C p.L24L 0.539736 0.8512 0.421478 0.5110 0.8605 Uncertain 5_113698631_-->GCC 5 113698631 113698631 - GCC indel 5327.73 1/1 99 131 0 131 1.0 exonic rs111266015 KCNN2 AU nonframeshift insertion NM_021614 exon1 c.159_160insGCC p.A53delinsAA 0.318361 0.3995 0.7673 ID=COSM1486218,COSM1486217;OCCURENCE=2(breast) Uncertain 5_113822205_C->T 5 113822205 113822205 C T snp 477.77 1/1 36 16 0 16 1.0 ncRNA_intronic rs12719181 LOC101927078 AU 0.754193 0.9087 Uncertain 5_113822735_T->C 5 113822735 113822735 T C snp 2180.77 0/1 99 209 111 98 0.47 ncRNA_intronic rs117446334 LOC101927078 AU 0.0071885 0.0317 0.000077 0.0027 0.0356 Uncertain 5_113829121_A->G 5 113829121 113829121 A G snp 3962.77 1/1 99 142 0 142 1.0 exonic rs1841251 KCNN2 AU synonymous SNV NM_170775 exon5 c.A360G p.E120E 0.972444 1 0.969855 0.9917 1 Uncertain 5_114462355_C->T 5 114462355 114462355 C T snp 6402.77 1/1 99 217 0 217 1.0 exonic rs2974617 TRIM36 AU nonsynonymous SNV NM_001300752 exon9 c.G1567A p.D523N 0.937101 0.9256 0.929560 0.9495 0.9297 0.06 T 0.0 P -1.006 T 0.0 T 0.001 T Pathogenic 5_114462589_A->C 5 114462589 114462589 A C snp 2607.77 1/1 99 90 0 90 1.0 intronic rs2921623 TRIM36 AU NM_018700 exon1 c.355+35A>C 0.989617 1 0.989490 0.9970 1 Uncertain 5_114462630_T->C 5 114462630 114462630 T C snp 662.77 0/1 99 40 17 23 0.57 intronic rs2974528 TRIM36 AU NM_018700 exon1 c.355+76T>C 0.520168 0.3313 Uncertain 5_114469724_T->C 5 114469724 114469724 T C snp 1565.77 0/1 99 128 64 64 0.5 exonic rs17137481 TRIM36 AU nonsynonymous SNV NM_001300752 exon7 c.A902G p.N301S 0.194289 0.3958 0.074516 0.1202 0.3539 0.18 T 0.000 P -0.984 T 0.0 T 0.004 T Pathogenic 5_114469851_G->A 5 114469851 114469851 G A snp 358.77 0/1 99 20 6 14 0.7 intronic rs17137483 TRIM36 AU NM_018700 exon3 c.7645+7G>A 0.160343 0.3938 0.033379 0.1151 0.3685 Uncertain 5_114480364_C->T 5 114480364 114480364 C T snp 1963.77 0/1 99 183 96 87 0.48 exonic rs7716270 TRIM36 AU synonymous SNV NM_001300752 exon3 c.G237A p.L79L 0.340256 0.4345 0.239080 0.1953 0.3883 Uncertain 5_114598204_C->T 5 114598204 114598204 C T snp 214.84 1/1 18 6 0 6 1.0 intronic rs267307 PGGT1B AU NM_005023 exon9 c.50310-204C>T 0.873203 0.872 Uncertain 5_114611356_A->C 5 114611356 114611356 A C snp 268.8 1/1 21 11 0 11 1.0 intronic rs267295 CCDC112 AU NM_152549 exon5 c.7731+53A>C 0.88738 0.871 Uncertain 5_114632423_C->T 5 114632423 114632423 C T snp 95.28 1/1 9 4 0 4 1.0 UTR5 rs3111171 CCDC112 AU Uncertain 5_115167596_T->- 5 115167596 115167596 T - indel 710.73 1/1 57 20 0 20 1.0 intronic rs3215095 ATG12 AU NM_004707 exon1 c.60+36delT 0.63778 0.5804 0.570149 0.5507 0.5922 Uncertain 5_115176589_A->G 5 115176589 115176589 A G snp 710.77 0/1 99 88 58 30 0.34 intronic rs26536 ATG12 AU NM_001277783 exon3 c.8787-497A>G 0.480431 0.3165 0.5039 0.3060 Uncertain 5_115188660_A->G 5 115188660 115188660 A G snp 975.77 0/1 99 88 46 42 0.48 intronic rs152368 AP3S1 AU NM_001284 exon1 c.69+10857A>G 0.415136 0.3333 0.4341 0.3177 Uncertain 5_115238716_G->A 5 115238716 115238716 G A snp 1590.77 0/1 99 134 62 72 0.54 intronic rs41332950 AP3S1 AU NM_001284 exon5 c.60955+27G>A 0.177316 0.3284 0.069758 0.2845 0.4412 Uncertain 5_115238909_A->G 5 115238909 115238909 A G snp 108.77 0/1 99 8 4 4 0.5 intronic rs71581217 AP3S1 AU NM_001284 exon5 c.60955+220A>G 0.204073 0.3274 Uncertain 5_115298232_G->C 5 115298232 115298232 G C snp 2660.77 1/1 99 96 0 96 1.0 UTR5 rs9326980 LVRN AU 0.774161 0.747 0.8110 0.7812 Uncertain 5_115298378_C->T 5 115298378 115298378 C T snp 2173.77 1/1 99 82 0 82 1.0 exonic rs10062297 LVRN AU synonymous SNV NM_173800 exon1 c.C64T p.L22L 0.77496 0.747 0.836635 0.7832 0.7527 Uncertain 5_115298475_T->C 5 115298475 115298475 T C snp 3367.77 1/1 99 131 0 131 1.0 exonic rs12520255 LVRN AU nonsynonymous SNV NM_173800 exon1 c.T161C p.L54S 0.773962 0.747 0.823374 0.7815 0.7467 0.87 T 0.000 P -1.067 T 0.0 T 0.0 T Pathogenic 5_115298518_A->G 5 115298518 115298518 A G snp 4536.77 1/1 99 171 0 171 1.0 exonic rs12522632 LVRN AU synonymous SNV NM_173800 exon1 c.A204G p.P68P 0.822591 0.7814 0.7495 Uncertain 5_115298977_C->T 5 115298977 115298977 C T snp 1881.77 0/1 99 172 85 87 0.51 exonic rs1445708 LVRN AU synonymous SNV NM_173800 exon1 c.C663T p.F221F 0.389177 0.4246 0.345315 0.4201 0.4356 Uncertain 5_115323489_T->C 5 115323489 115323489 T C snp 1854.77 0/1 99 187 106 81 0.43 intronic rs10519436 LVRN AU NM_173800 exon4 c.25195-20T>C 0.227436 0.4177 0.141572 0.1872 0.4241 Uncertain 5_115323724_A->G 5 115323724 115323724 A G snp 152.77 0/1 99 10 5 5 0.5 intronic rs10519437 LVRN AU NM_173800 exon4 c.25322+88A>G 0.226637 0.4177 Uncertain 5_115336862_T->C 5 115336862 115336862 T C snp 1572.77 0/1 99 152 82 70 0.46 exonic rs7712021 LVRN AU synonymous SNV NM_173800 exon10 c.T1746C p.N582N 0.254792 0.2252 0.336896 0.2895 0.2245 Uncertain 5_115339086_A->G 5 115339086 115339086 A G snp 522.77 1/1 39 17 0 17 1.0 intronic rs6594929 LVRN AU NM_173800 exon12 c.40763+9A>G 0.811701 0.7718 0.862643 0.8152 0.7825 Uncertain 5_115341611_G->T 5 115341611 115341611 G T snp 3631.77 1/1 99 142 0 142 1.0 exonic rs10078748 LVRN AU synonymous SNV NM_173800 exon13 c.G2040T p.A680A 0.776757 0.7768 0.816846 0.8040 0.7765 Uncertain 5_115341638_G->C 5 115341638 115341638 G C snp 3252.77 1/1 99 118 1 117 0.99 exonic rs10078759 LVRN AU nonsynonymous SNV NM_173800 exon13 c.G2067C p.L689F 0.817077 0.8044 0.7770 0.16 T 0.000 P -1.111 T 0.413 T 0.148 T Pathogenic 5_115351498_C->T 5 115351498 115351498 C T snp 1987.77 0/1 99 173 90 83 0.48 intronic rs17485148 LVRN AU NM_173800 exon18 c.53148+36C>T 0.845447 0.9653 0.747962 0.7633 0.9622 Uncertain 5_115358190_C->T 5 115358190 115358190 C T snp 388.77 0/1 99 28 12 16 0.57 intronic rs7714138 LVRN AU NM_173800 exon19 c.59849+27C>T 0.0922524 0.0615 0.141172 0.1606 0.0557 Uncertain 5_115387382_C->G 5 115387382 115387382 C G snp 1225.77 1/1 90 40 0 40 1.0 intronic rs78290575 ARL14EPL AU NM_001195581 exon1 c.96+124C>G 0.0413339 0.122 Uncertain 5_115394357_T->C 5 115394357 115394357 T C snp 757.77 1/1 57 19 0 19 1.0 intronic rs6860908 ARL14EPL AU NM_001195581 exon3 c.7259-64T>C 0.992612 0.9653 Uncertain 5_115394551_C->T 5 115394551 115394551 C T snp 4013.77 1/1 99 148 0 148 1.0 exonic rs6880325 ARL14EPL AU synonymous SNV NM_001195581 exon3 c.C366T p.P122P 0.0752796 0.1627 0.0474 0.1263 Uncertain 5_115394626_G->T 5 115394626 115394626 G T snp 3164.77 1/1 99 112 0 112 1.0 exonic rs6880759 ARL14EPL AU synonymous SNV NM_001195581 exon3 c.G441T p.P147P 0.0720847 0.1627 0.0472 0.1263 Uncertain 5_115420598_G->A 5 115420598 115420598 G A snp 139.03 1/1 12 4 0 4 1.0 upstream rs3087831 COMMD10 AU 0.155152 0.1736 Uncertain 5_115420628_G->A 5 115420628 115420628 G A snp 837.77 1/1 63 23 0 23 1.0 upstream rs3087832 COMMD10 AU 0.154952 0.1736 Uncertain 5_115420634_C->G 5 115420634 115420634 C G snp 1050.77 1/1 78 29 0 29 1.0 upstream rs3776796 COMMD10 AU 0.0483227 0.1359 Uncertain 5_115420897_G->A 5 115420897 115420897 G A snp 1026.77 1/1 45 43 5 38 0.88 intronic rs74583480 COMMD10 AU NM_016144 exon1 c.41+107G>A 0.152756 0.1736 Uncertain 5_115420905_G->A 5 115420905 115420905 G A snp 645.81 1/1 20 32 8 24 0.75 intronic rs73780832 COMMD10 AU NM_016144 exon1 c.41+115G>A 0.154952 0.1736 Uncertain 5_115421014_G->T 5 115421014 115421014 G T snp 53.74 1/1 6 3 0 3 1.0 intronic rs17138850 COMMD10 AU NM_016144 exon1 c.41+224G>T 0.155152 0.1746 Uncertain 5_115423174_TG->- 5 115423174 115423175 TG - indel 1812.73 0/1 99 90 49 41 0.46 intronic rs140307563 COMMD10 AU NM_016144 exon2 c.2444-19_2444-18delTG 0.00778754 0.0387 0.0036 0.0492 Uncertain 5_115428381_T->G 5 115428381 115428381 T G snp 5265.77 1/1 99 191 0 191 1.0 exonic rs1129495 COMMD10 AU nonsynonymous SNV NM_016144 exon4 c.T383G p.I128S 0.142572 0.1736 0.115042 0.0881 0.1852 0.84 T 0.416 P -0.912 T 0.075 T 0.021 T Pathogenic 5_115628117_C->T 5 115628117 115628117 C T snp 1385.77 1/1 99 47 0 47 1.0 intronic rs6866938 COMMD10 AU NM_016144 exon7 c.207398-30C>T 0.140974 0.1577 0.131882 0.1312 0.1629 Uncertain 5_115628134_G->- 5 115628134 115628134 G - indel 1427.73 1/1 99 61 0 61 1.0 intronic rs375420756 COMMD10 AU NM_016144 exon7 c.207398-13delG 0.0940495 0.1399 0.0917 0.1234 Uncertain 5_115783553_C->T 5 115783553 115783553 C T snp 1550.77 0/1 99 100 45 55 0.55 ncRNA_intronic rs17139805 SEMA6A-AS1 AU 0.184105 0.1637 0.167103 0.1696 0.2241 Uncertain 5_115784843_G->A 5 115784843 115784843 G A snp 353.77 0/1 99 25 11 14 0.56 ncRNA_intronic rs1968362 SEMA6A-AS1 AU 0.530351 0.6429 Uncertain 5_115803579_GTG->- 5 115803579 115803581 GTG - indel 280.73 0/1 99 25 5 20 0.8 ncRNA_intronic rs10551961 SEMA6A-AS1 AU Uncertain 5_115813726_A->G 5 115813726 115813726 A G snp 7244.77 1/1 99 249 0 249 1.0 exonic rs34966 SEMA6A AU nonsynonymous SNV NM_001300780 exon14 c.T1552C p.Y518H 1 1 1.0000 1 1 T 0.055 P -0.923 T 0.0 T 0.003 T Pathogenic 5_115814496_C->G 5 115814496 115814496 C G snp 1207.77 0/1 99 83 40 43 0.52 intronic rs40102 SEMA6A AU NM_001300780 exon8 c.32106+82C>G 0.247005 0.2262 Uncertain 5_115822392_G->A 5 115822392 115822392 G A snp 417.77 0/1 99 55 33 22 0.4 intronic rs2059874 SEMA6A AU NM_001300780 exon11 c.40136-52G>A 0.152556 0.2609 Uncertain 5_115827356_C->T 5 115827356 115827356 C T snp 1166.77 0/1 99 110 60 50 0.45 intronic rs154599 SEMA6A AU NM_001300780 exon14 c.45127-79C>T 0.823682 0.8036 Uncertain 5_115827407_G->A 5 115827407 115827407 G A snp 1599.77 0/1 99 154 79 75 0.49 intronic rs154600 SEMA6A AU NM_001300780 exon14 c.45127-28G>A 0.833067 0.8036 0.820677 0.7962 0.7669 Uncertain 5_115837772_G->A 5 115837772 115837772 G A snp 1828.77 1/1 99 58 0 58 1.0 intronic rs154466 SEMA6A AU NM_001300780 exon18 c.55597-133G>A 0.889577 0.9157 Uncertain 5_115837789_G->T 5 115837789 115837789 G T snp 677.77 0/1 99 71 42 29 0.41 intronic rs6885854 SEMA6A AU NM_001300780 exon18 c.55597-116G>T 0.23103 0.249 Uncertain 5_115838117_C->G 5 115838117 115838117 C G snp 50.74 1/1 6 2 0 2 1.0 intronic rs54100 SEMA6A AU NM_001300780 exon18 c.55715+94C>G 0.89357 0.9266 Uncertain 5_117329051_-->AGACAC 5 117329051 117329051 - AGACAC indel 2555.73 1/1 99 33 0 33 1.0 ncRNA_intronic rs34947620 LOC102467224 AU Uncertain 5_117896642_C->T 5 117896642 117896642 C T snp 77.77 0/1 99 32 27 5 0.16 ncRNA_intronic rs112399397 LOC101927280 AU Uncertain 5_117938631_ACACACAT->- 5 117938631 117938638 ACACACAT - indel 1103.73 0/1 99 21 6 15 0.71 ncRNA_intronic rs202127585 LOC102467225 AU Uncertain 5_117938637_ATAT->- 5 117938637 117938640 ATAT - indel 577.73 1/1 46 22 0 22 1.0 ncRNA_intronic rs199946167 LOC102467225 AU Uncertain 5_117938684_C->A 5 117938684 117938684 C A snp 825.77 0/1 99 57 24 33 0.58 ncRNA_intronic rs62370420 LOC102467225 AU 0.172923 0.0923 Uncertain 5_117938722_T->G 5 117938722 117938722 T G snp 540.77 0/1 99 66 40 26 0.39 ncRNA_intronic rs72663331 LOC102467225 AU 0.206869 0.4306 Uncertain 5_118456977_T->A 5 118456977 118456977 T A snp 248.8 1/1 21 7 0 7 1.0 intronic rs10056088 DMXL1 AU NM_005509 exon9 c.49570+143T>A 0.537141 0.9385 Uncertain 5_118468658_C->T 5 118468658 118468658 C T snp 99.28 1/1 9 3 0 3 1.0 intronic rs6874227 DMXL1 AU NM_005509 exon11 c.61562-168C>T 0.484225 0.9385 Uncertain 5_118484804_G->A 5 118484804 118484804 G A snp 7383.77 1/1 99 248 0 248 1.0 exonic rs7734532 DMXL1 AU synonymous SNV NM_005509 exon18 c.G3282A p.E1094E 0.618211 0.9524 0.478776 0.5545 0.9684 Uncertain 5_118506603_A->C 5 118506603 118506603 A C snp 2721.77 0/1 99 247 125 122 0.49 exonic rs9791089 DMXL1 AU synonymous SNV NM_005509 exon24 c.A6117C p.V2039V 0.114617 0.369 0.039680 0.0884 0.3643 Uncertain 5_118506685_G->A 5 118506685 118506685 G A snp 2983.77 0/1 99 249 130 119 0.48 exonic rs9790916 DMXL1 AU nonsynonymous SNV NM_005509 exon24 c.G6199A p.V2067M 0.110623 0.3571 0.039296 0.0859 0.3568 0 D 1.000 P -1.103 T 0.223 T 0.221 T Pathogenic 5_118506805_A->T 5 118506805 118506805 A T snp 2226.77 0/1 99 179 92 87 0.49 exonic rs9791092 DMXL1 AU nonsynonymous SNV NM_005509 exon24 c.A6319T p.T2107S 0.111621 0.3631 0.038988 0.0861 0.3586 0.7 T 0.0 P -1.055 T 0.001 T 0.003 T Pathogenic 5_118513246_-->TG 5 118513246 118513246 - TG indel 2383.73 1/1 99 49 0 49 1.0 intronic rs34139050 DMXL1 AU NM_005509 exon27 c.105915+67insTG 0.673922 0.9573 Uncertain 5_118532034_A->C 5 118532034 118532034 A C snp 4203.77 1/1 99 150 0 150 1.0 intronic rs6595178 DMXL1 AU NM_005509 exon31 c.124801-31A>C 0.710064 0.9583 0.619348 0.6820 0.9696 Uncertain 5_118533499_A->G 5 118533499 118533499 A G snp 2148.77 0/1 99 200 106 94 0.47 exonic rs17144974 DMXL1 AU synonymous SNV NM_005509 exon32 c.A7593G p.Q2531Q 0.0317492 0.1389 0.003691 0.0157 0.1440 Uncertain 5_118568906_A->T 5 118568906 118568906 A T snp 135.03 1/1 12 5 0 5 1.0 intronic rs74376720 DMXL1 AU NM_005509 exon38 c.161770-128A>T 0.057508 0.1329 Uncertain 5_118569196_A->G 5 118569196 118569196 A G snp 735.77 1/1 54 22 0 22 1.0 intronic rs79422697 DMXL1 AU NM_005509 exon38 c.161898+34A>G 0.0555112 0.1319 0.030091 0.0217 0.1427 Uncertain 5_118582779_G->C 5 118582779 118582779 G C snp 2481.77 0/1 99 250 141 109 0.44 exonic rs2174433 DMXL1 AU synonymous SNV NM_005509 exon43 c.G8949C p.V2983V 0.0473243 0.0982 0.029452 0.0183 0.1056 Uncertain 5_118669094_C->T 5 118669094 118669094 C T snp 311.78 1/1 27 10 0 10 1.0 intergenic rs250306 DMXL1 AU 0.175519 0.4147 Uncertain 5_118690998_A->G 5 118690998 118690998 A G snp 1182.77 1/1 84 43 0 43 1.0 upstream rs3813309 TNFAIP8 AU 0.7502 0.5813 Uncertain 5_118691693_C->A 5 118691693 118691693 C A snp 642.77 1/1 51 19 0 19 1.0 UTR5 rs3797339 TNFAIP8 AU 0.410144 0.5 Uncertain 5_118691929_A->T 5 118691929 118691929 A T snp 633.77 1/1 48 19 0 19 1.0 intronic rs6595185 TNFAIP8 AU NM_014350 exon1 c.31+113A>T 0.997804 0.9891 Uncertain 5_118727224_A->G 5 118727224 118727224 A G snp 1173.77 1/1 90 31 0 31 1.0 intronic rs3733855 TNFAIP8 AU NM_014350 exon2 c.36725-1286A>G 0.710663 0.5933 Uncertain 5_118788196_C->G 5 118788196 118788196 C G snp 330.77 0/1 99 25 13 12 0.48 UTR5 rs26180 HSD17B4 AR 0.40635 0.5119 Uncertain 5_118791832_G->A 5 118791832 118791832 G A snp 523.77 1/1 39 17 0 17 1.0 intronic rs32651 HSD17B4 AR NM_000414 exon2 c.3739-177G>A 0.578275 0.9137 Uncertain 5_118809534_CA->- 5 118809534 118809535 CA - indel 2046.73 1/1 99 49 0 49 1.0 intronic rs10601221 HSD17B4 AR NM_001199292 exon2 c.21332-68_21332-67delCA 0.574281 0.9067 Uncertain 5_118811533_G->A 5 118811533 118811533 G A snp 427.77 0/1 99 61 41 20 0.33 exonic rs25640 HSD17B4 AR nonsynonymous SNV NM_000414 exon6 c.G317A p.R106H 0.36262 0.5069 0.363846 0.4400 0.5166 0.02 T 1.0 P -0.975 T 0.996 D 0.687 D CLINSIG=pathogenic;CLNDBN=Bifunctional_peroxisomal_enzyme_deficiency;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000008096.1;CLNDSDB=MedGen:OMIM:SNOMED_CT;CLNDSDBID=C0342870:261515:238068007 Pathogenic 5_118813240_T->C 5 118813240 118813240 T C snp 1849.77 0/1 99 183 92 91 0.5 intronic rs457106 HSD17B4 AR NM_001199292 exon6 c.24926+44T>C 0.352636 0.5466 0.343510 0.4442 0.5521 Uncertain 5_118813316_A->G 5 118813316 118813316 A G snp 2280.77 1/1 99 76 0 76 1.0 intronic rs463513 HSD17B4 AR NM_001199292 exon6 c.24926+120A>G 0.582867 0.9117 Uncertain 5_118825051_G->C 5 118825051 118825051 G C snp 440.77 0/1 99 55 35 20 0.36 intronic rs12653702 HSD17B4 AR NM_001199292 exon8 c.36708+73G>C Uncertain 5_118827637_T->A 5 118827637 118827637 T A snp 110.77 0/1 69 7 3 4 0.57 intronic rs6894991 HSD17B4 AR NM_001199292 exon9 c.39524-157T>A 0.121406 0.4008 Uncertain 5_118827842_T->C 5 118827842 118827842 T C snp 635.77 0/1 99 61 29 32 0.52 intronic rs6895345 HSD17B4 AR NM_001199292 exon9 c.39549+23T>C 0.125998 0.4008 0.030837 0.0600 0.4046 Uncertain 5_118837658_T->C 5 118837658 118837658 T C snp 646.77 0/1 99 86 58 28 0.33 intronic rs257969 HSD17B4 AR NM_001199292 exon13 c.49465-77T>C 0.258586 0.4107 Uncertain 5_118837833_C->T 5 118837833 118837833 C T snp 722.77 0/1 99 49 21 28 0.57 intronic rs460945 HSD17B4 AR NM_001199292 exon13 c.49517+46C>T 0.274361 0.4097 0.256422 0.3226 0.3975 Uncertain 5_118837834_A->G 5 118837834 118837834 A G snp 720.77 0/1 99 48 21 27 0.56 intronic rs55708333 HSD17B4 AR NM_001199292 exon13 c.49517+47A>G 0.423722 0.5139 0.422627 0.4749 0.5194 Uncertain 5_118845089_G->A 5 118845089 118845089 G A snp 85.77 0/1 99 10 4 6 0.6 intronic rs32663 HSD17B4 AR NM_001199292 exon15 c.56669+150G>A 0.41274 0.506 0.5078 0.5730 Uncertain 5_118845139_G->A 5 118845139 118845139 G A snp 311.78 1/1 24 12 0 12 1.0 intronic rs32664 HSD17B4 AR NM_001199292 exon15 c.56669+200G>A 0.675919 0.9147 0.6134 0.9213 Uncertain 5_118861713_A->G 5 118861713 118861713 A G snp 1045.77 0/1 99 97 54 43 0.44 exonic rs11205 HSD17B4 AR nonsynonymous SNV NM_000414 exon19 c.A1675G p.I559V 0.40016 0.4177 0.404414 0.4110 0.4060 0.17 T 1.000 P -0.983 T 0.791 T 0.332 P Pathogenic 5_118862971_C->T 5 118862971 118862971 C T snp 937.77 1/1 69 34 0 34 1.0 intronic rs2636961 HSD17B4 AR NM_001199292 exon19 c.74644+57C>T 0.682109 0.9117 0.602980 Uncertain 5_118866879_T->A 5 118866879 118866879 T A snp 443.77 0/1 99 31 15 16 0.52 intronic rs34554885 HSD17B4 AR NM_001199292 exon21 c.78690-81T>A Uncertain 5_118867173_G->C 5 118867173 118867173 G C snp 227.77 0/1 99 19 11 8 0.42 intronic rs17145464 HSD17B4 AR NM_001199292 exon21 c.78829+74G>C 0.256589 0.4077 Uncertain 5_118872184_C->T 5 118872184 118872184 C T snp 2694.77 0/1 99 248 133 115 0.46 exonic rs28943592 HSD17B4 AR nonsynonymous SNV NM_000414 exon23 c.C2060T p.T687I 0.0133786 0.0635 0.000538 0.0067 0.0812 0.996 D -0.946 T 0.98 D 0.79 D Pathogenic 5_118877548_T->G 5 118877548 118877548 T G snp 188.77 0/1 99 21 11 10 0.48 intronic rs33926345 HSD17B4 AR NM_001199292 exon23 c.89329-51T>G 0.145966 0.4048 0.053353 Uncertain 5_118965609_C->A 5 118965609 118965609 C A snp 336.77 0/1 99 36 21 15 0.42 intronic rs2431372 FAM170A AU NM_182761 exon1 c.70+76C>A 0.4375 0.497 Uncertain 5_118965623_A->G 5 118965623 118965623 A G snp 195.77 0/1 99 21 13 8 0.38 intronic rs2434599 FAM170A AU NM_182761 exon1 c.70+90A>G 0.662939 0.6171 Uncertain 5_118968423_T->G 5 118968423 118968423 T G snp 2489.77 0/1 99 211 105 106 0.5 intronic rs328698 FAM170A AU NM_182761 exon2 c.2979-19T>G 0.4377 0.496 0.403565 0.4457 0.5106 Uncertain 5_118969960_C->T 5 118969960 118969960 C T snp 2719.77 0/1 99 249 135 114 0.46 exonic rs328694 FAM170A AU nonsynonymous SNV NM_001163991 exon2 c.C376T p.P126S 0.44349 0.495 0.411302 0.4473 0.5096 0.0 P -0.914 T 1.0 D 0.999 D Pathogenic 5_118970920_G->A 5 118970920 118970920 G A snp 132.77 0/1 99 11 6 5 0.45 intronic rs988464 FAM170A AU NM_182761 exon4 c.5318+139G>A 0.442891 0.494 Uncertain 5_120021819_G->A 5 120021819 120021819 G A snp 4314.77 1/1 99 156 0 156 1.0 exonic rs1158194 PRR16 AU synonymous SNV NM_001300783 exon2 c.G330A p.P110P 0.982029 1 0.979087 0.9942 1 Uncertain 5_121330223_C->T 5 121330223 121330223 C T snp 822.77 1/1 60 29 0 29 1.0 intronic rs6595336 SRFBP1 AU NM_152546 exon4 c.32566-70C>T 0.98123 1 Uncertain 5_121413208_C->T 5 121413208 121413208 C T snp 2881.77 0/1 99 248 133 115 0.46 exonic rs1800449 LOX AU nonsynonymous SNV NM_002317 exon1 c.G473A p.R158Q 0.156749 0.1875 0.175339 0.1728 0.2024 0.73 T 0.0 P -0.976 T 0.0 T 0.0 T CLINSIG=non-pathogenic;CLNDBN=LYSYL_OXIDASE_POLYMORPHISM;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000015437.1;CLNDSDB=.;CLNDSDBID=. ID=CM094788;DIS=Breast cancer, increased risk, in African American women, association with;TAG=DFP;PUB=19654310 DFP Pathogenic 5_121413373_C->G 5 121413373 121413373 C G snp 2988.77 0/1 99 242 120 122 0.5 exonic rs200513395 LOX AU nonsynonymous SNV NM_002317 exon1 c.G308C p.R103P 0.000998403 0.005 0.0004 0.0061 0.26 T 1 N -1.037 T 0.0 T 0.001 T Pathogenic 5_121488506_C->G 5 121488506 121488506 C G snp 7055.77 1/1 99 250 0 250 1.0 exonic rs35262183 ZNF474 AU nonsynonymous SNV NM_207317 exon2 c.C821G p.S274C 0.249401 0.3909 0.225742 0.2858 0.3883 0.11 T 0.0 P -0.957 T 0.985 D 0.408 D Pathogenic 5_121488636_T->- 5 121488636 121488636 T - indel 3751.73 0/1 99 243 126 117 0.48 exonic rs3217313 ZNF474 AU frameshift deletion NM_207317 exon2 c.951delT p.N317fs 0.186302 0.1994 0.150240 0.0942 0.2093 ID=COSM150900;OCCURENCE=1(stomach) Pathogenic 5_121726714_G->A 5 121726714 121726714 G A snp 580.77 0/1 99 48 26 22 0.46 intronic rs1946649 SNCAIP AU 0.781749 0.749 Uncertain 5_122012270_C->T 5 122012270 122012270 C T snp 1706.77 0/1 99 184 108 76 0.41 ncRNA_intronic rs17132683 LOC101927379 AU 0.522963 0.8006 Uncertain 5_122012354_A->G 5 122012354 122012354 A G snp 742.77 0/1 99 45 22 23 0.51 ncRNA_intronic rs2407398 LOC101927379 AU 0.589058 0.8006 Uncertain 5_122111005_G->T 5 122111005 122111005 G T snp 2159.77 1/1 99 62 0 62 1.0 UTR5 rs2276988 SNX2 AU 0.185104 0.3512 Uncertain 5_122135561_A->G 5 122135561 122135561 A G snp 428.77 0/1 99 30 16 14 0.47 intronic rs3816607 SNX2 AU NM_003100 exon3 c.24752+11A>G 0.00798722 0.0397 0.0029 0.0391 Uncertain 5_122165471_ACACACACACACAC->- 5 122165471 122165484 ACACACACACACAC - indel 3557.73 1/1 69 43 0 43 1.0 UTR3 rs138443824 SNX2 AU Uncertain 5_122267456_C->T 5 122267456 122267456 C T snp 94.28 1/1 9 3 0 3 1.0 intronic rs246314 SNX24 AU NM_014035 exon2 c.91100-4972C>T 0.815695 0.9851 Uncertain 5_122272293_G->C 5 122272293 122272293 G C snp 54.74 1/1 6 2 0 2 1.0 intronic rs30043 SNX24 AU NM_014035 exon2 c.91100-135G>C 0.858227 0.9871 Uncertain 5_122272641_A->G 5 122272641 122272641 A G snp 810.77 1/1 60 30 0 30 1.0 intronic rs30042 SNX24 AU NM_014035 exon2 c.91184+129A>G 0.886182 0.9871 Uncertain 5_122281651_C->T 5 122281651 122281651 C T snp 304.78 1/1 24 8 0 8 1.0 intronic rs1038078 SNX24 AU NM_014035 exon3 c.100421-98C>T 0.158946 0.3472 Uncertain 5_122281709_-->T 5 122281709 122281709 - T indel 466.73 1/1 69 25 0 25 1.0 intronic rs398050707 SNX24 AU NM_014035 exon3 c.100421-40insT 0.555312 0.5992 0.6043 0.7309 Uncertain 5_122281721_C->T 5 122281721 122281721 C T snp 35.77 0/1 64 32 20 12 0.38 intronic rs201442950 SNX24 AU NM_014035 exon3 c.100421-28C>T 0.0137 0.0231 Uncertain 5_122301079_T->G 5 122301079 122301079 T G snp 2661.77 1/1 99 100 0 100 1.0 intronic rs30055 SNX24 AU NM_014035 exon3 c.100526+19225T>G 0.858227 0.9871 Uncertain 5_122359502_-->ACAC 5 122359502 122359502 - ACAC indel 265.87 1/1 15 8 0 8 1.0 UTR3 PPIC AU Uncertain 5_122359839_-->AC 5 122359839 122359839 - AC indel 644.73 1/1 45 15 0 15 1.0 intronic rs144851383 PPIC AU NM_000943 exon1 c.129+141insAC Uncertain 5_122359841_GTTTTTT->- 5 122359841 122359847 GTTTTTT - indel 805.75 1/1 24 8 0 8 1.0 intronic rs374638812 PPIC AU NM_000943 exon1 c.129+143_129+149delGTTTTTT Uncertain 5_122364683_C->A 5 122364683 122364683 C A snp 286.78 1/1 24 8 0 8 1.0 intronic rs10066632 PPIC AU NM_000943 exon3 c.4994+120C>A 0.886382 0.9871 Uncertain 5_122372402_G->C 5 122372402 122372402 G C snp 1442.77 1/1 99 47 0 47 1.0 UTR5 rs28373879 PPIC AU 0.841054 0.9276 Uncertain 5_122435627_G->A 5 122435627 122435627 G A snp 2329.77 0/1 99 198 96 102 0.52 exonic rs1008058 PRDM6 AD nonsynonymous SNV NM_001136239 exon3 c.G871A p.A291T 0.185104 0.3859 0.096407 0.1850 0.3721 0.26 T 0.994 P -0.987 T 0.259 T 0.027 T Pathogenic 5_122682154_T->G 5 122682154 122682154 T G snp 971.77 0/1 99 49 20 29 0.59 UTR3 rs2303719 CEP120 AR 0.653554 0.5923 Uncertain 5_122682334_C->T 5 122682334 122682334 C T snp 3420.77 0/1 99 250 129 121 0.48 exonic rs2303720 CEP120 AR nonsynonymous SNV NM_153223 exon21 c.G2840A p.R947H 0.0716853 0.0843 0.035983 0.0533 0.0886 0 D 1.0 P -1.046 T 1.0 D 0.987 D Pathogenic 5_122682348_A->G 5 122682348 122682348 A G snp 3233.06 0/1 99 250 135 115 0.46 exonic rs1047438 CEP120 AR synonymous SNV NM_153223 exon21 c.T2826C p.D942D 0.682708 0.5923 0.729586 0.6938 0.5782 Uncertain 5_122685801_G->A 5 122685801 122685801 G A snp 4323.77 1/1 99 163 0 163 1.0 intronic rs485847 CEP120 AR NM_001166226 exon2 c.3571+18G>A 1 1 1 1 Uncertain 5_122727138_T->A 5 122727138 122727138 T A snp 203.84 1/1 18 7 0 7 1.0 intronic rs590279 CEP120 AR NM_001166226 exon14 c.44819+107T>A 0.985224 0.9325 Uncertain 5_122729230_T->A 5 122729230 122729230 T A snp 719.77 0/1 99 50 26 24 0.48 intronic rs17408694 CEP120 AR NM_001166226 exon15 c.46979+39T>A 0.229233 0.0903 0.291922 0.2567 0.0986 Uncertain 5_122739242_T->C 5 122739242 122739242 T C snp 121.77 0/1 99 9 4 5 0.56 intronic rs73799308 CEP120 AR NM_001166226 exon16 c.52766+4264T>C 0.0844649 0.0883 Uncertain 5_122758268_G->C 5 122758268 122758268 G C snp 1519.77 0/1 99 140 75 65 0.46 intronic rs6882791 CEP120 AR NM_153223 exon20 c.76431-375G>C 0.759585 0.9097 0.7590 0.9412 Uncertain 5_122909345_G->C 5 122909345 122909345 G C snp 184.77 0/1 99 13 7 6 0.46 intronic rs7712330 CSNK1G3 AU NM_004384 exon4 c.27878+110G>C 0.555711 0.3442 Uncertain 5_123966144_GTGTGTGT->- 5 123966144 123966151 GTGTGTGT - indel 442.74 0/1 28 23 1 22 0.96 intergenic rs375097374 LINC01170 AU 0.76238 0.9623 0.2995 0.2836 Uncertain 5_123973701_T->C 5 123973701 123973701 T C snp 1432.77 0/1 99 102 49 53 0.52 intronic rs6896590 ZNF608 AU NM_020747 exon1 c.7+102T>C 0.446286 0.628 Uncertain 5_123973735_C->G 5 123973735 123973735 C G snp 437.77 0/1 99 37 22 15 0.41 intronic rs12655148 ZNF608 AU NM_020747 exon1 c.7+136C>G 0.240415 0.3542 Uncertain 5_123974608_T->C 5 123974608 123974608 T C snp 1911.77 1/1 99 69 0 69 1.0 intronic rs4371750 ZNF608 AU NM_020747 exon2 c.1233-217T>C 0.838658 0.995 Uncertain 5_123974673_T->C 5 123974673 123974673 T C snp 480.77 0/1 99 38 19 19 0.5 intronic rs62370761 ZNF608 AU NM_020747 exon2 c.1233-152T>C 0.283147 0.4613 Uncertain 5_123979806_G->A 5 123979806 123979806 G A snp 83.77 0/1 61 5 2 3 0.6 intronic rs11743931 ZNF608 AU NM_020747 exon5 c.6344-130G>A 0.276358 0.4534 Uncertain 5_123983915_G->T 5 123983915 123983915 G T snp 1164.77 0/1 99 100 53 47 0.47 exonic rs6862252 ZNF608 AU nonsynonymous SNV NM_020747 exon4 c.C2162A p.T721N 0.629992 0.753 0.558896 0.5625 0.7503 0.58 T 0.0 P -1.006 T 0.0 T 0.0 T Pathogenic 5_123984763_C->T 5 123984763 123984763 C T snp 1965.77 0/1 99 174 93 81 0.47 exonic rs7708070 ZNF608 AU synonymous SNV NM_020747 exon4 c.G1314A p.A438A 0.761182 0.7609 0.785978 0.7449 0.7554 Uncertain 5_123985484_-->A 5 123985484 123985484 - A indel 211.73 0/1 99 27 17 10 0.37 intronic rs11422549 ZNF608 AU NM_020747 exon7 c.11798+94insA 0.671725 0.7252 Uncertain 5_124036555_C->T 5 124036555 124036555 C T snp 88.28 1/1 9 4 0 4 1.0 intronic rs6873550 ZNF608 AU NM_020747 exon8 c.63114-151C>T 0.946685 1 Uncertain 5_124044202_C->T 5 124044202 124044202 C T snp 56.74 1/1 6 2 0 2 1.0 intronic rs12655437 ZNF608 AU NM_020747 exon8 c.63370+7240C>T 0.0816693 0.1696 Uncertain 5_124045814_C->T 5 124045814 124045814 C T snp 1122.77 0/1 99 93 45 48 0.52 intronic rs117248457 ZNF608 AU NM_020747 exon8 c.63370+8852C>T 0.00219649 0.0109 Uncertain 5_125696140_G->A 5 125696140 125696140 G A snp 3100.77 1/1 99 94 0 94 1.0 exonic rs11241887 GRAMD3 AU synonymous SNV NM_001146319 exon1 c.G117A p.P39P 0.928914 1 0.916119 0.9522 1 Uncertain 5_125801394_T->C 5 125801394 125801394 T C snp 96.28 1/1 9 3 0 3 1.0 intronic rs6860957 GRAMD3 AU NM_001146322 exon2 c.155+157T>C 0.672923 0.8095 Uncertain 5_125802135_C->T 5 125802135 125802135 C T snp 233.77 0/1 99 23 15 8 0.35 intronic rs78912140 GRAMD3 AU NM_001146321 exon3 c.42711+107C>T 0.0623003 0.1339 Uncertain 5_125828803_A->G 5 125828803 125828803 A G snp 987.77 1/1 72 31 0 31 1.0 UTR3 rs4358517 GRAMD3 AU 0.816494 0.9325 Uncertain 5_125880589_T->C 5 125880589 125880589 T C snp 263.8 1/1 21 8 0 8 1.0 UTR3 rs2775 ALDH7A1 AR 0.360623 0.3859 0.434297 Uncertain 5_125885505_A->- 5 125885505 125885505 A - indel 1701.73 0/1 99 99 51 48 0.48 intronic rs201058790 ALDH7A1 AR NM_001202404 exon3 c.4964-115delA 0.0103834 Uncertain 5_125887685_C->T 5 125887685 125887685 C T snp 143.03 1/1 12 5 0 5 1.0 intronic rs2306617 ALDH7A1 AR NM_001202404 exon5 c.7056-27C>T 0.703075 0.7649 0.717592 0.7078 0.7411 Uncertain 5_125887715_T->G 5 125887715 125887715 T G snp 118.77 0/1 99 10 5 5 0.5 exonic rs12514417 ALDH7A1 AR nonsynonymous SNV NM_001182 exon14 c.A1315C p.K439Q 0.096845 0.1667 0.073735 0.1059 0.1418 0.24 T 0.018 P -0.814 T 0.019 T 0.026 T CLINSIG=probable-non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=no_assertion_criteria_provided|criteria_provided\x2c_single_submitter;CLNACC=RCV000116310.2|RCV000123625.1;CLNDSDB=MedGen|MedGen;CLNDSDBID=CN169374|CN221809 Pathogenic 5_125891516_T->A 5 125891516 125891516 T A snp 1071.77 0/1 99 116 68 48 0.41 intronic rs7713264 ALDH7A1 AR NM_001201377 exon7 c.10966-106T>A 0.096845 0.1657 Uncertain 5_125895115_TTTTGG->- 5 125895115 125895120 TTTTGG - indel 783.73 0/1 99 48 18 30 0.63 intronic rs201981205 ALDH7A1 AR NM_001202404 exon6 c.14370+89_14370+94delTTTTGG 0.108027 0.1776 Uncertain 5_125900292_A->G 5 125900292 125900292 A G snp 1428.77 0/1 99 146 83 63 0.43 intronic rs116532669 ALDH7A1 AR NM_001202404 exon7 c.16160+3476A>G 0.00958466 Uncertain 5_125929000_-->AC 5 125929000 125929000 - AC indel 195.73 0/1 99 15 8 7 0.47 intronic rs146736809 ALDH7A1 AR NM_001202404 exon15 c.48386-42insAC 0.286941 0.3294 Uncertain 5_125939409_C->T 5 125939409 125939409 C T snp 2243.77 0/1 99 186 93 93 0.5 exonic rs3734173 PHAX AU nonsynonymous SNV NM_032177 exon2 c.C244T p.R82C 0.0870607 0.2698 0.030909 0.0629 0.2631 0 D 1.000 P -1.165 T 0.998 D 0.817 D Pathogenic 5_125944219_-->TGTTTT 5 125944219 125944219 - TGTTTT indel 2821.73 1/1 38 60 2 58 0.97 intronic rs112502491 PHAX AU NM_032177 exon3 c.7522+43insTGTTTT 0.9998 1 0.995088 0.9992 0.9994 Uncertain 5_125950781_G->A 5 125950781 125950781 G A snp 354.77 0/1 99 34 21 13 0.38 intronic rs6886516 PHAX AU NM_032177 exon4 c.16287-2160G>A 0.352037 0.3601 Uncertain 5_125953144_T->C 5 125953144 125953144 T C snp 420.77 0/1 99 34 15 19 0.56 intronic rs6883308 PHAX AU NM_032177 exon4 c.16371+119T>C 0.343251 0.3591 Uncertain 5_125953183_A->T 5 125953183 125953183 A T snp 148.77 0/1 99 11 5 6 0.55 intronic rs6861893 PHAX AU NM_032177 exon4 c.16371+158A>T 0.34405 0.3601 Uncertain 5_126140350_A->G 5 126140350 126140350 A G snp 54.74 1/1 6 2 0 2 1.0 intronic rs968355 LMNB1 AD NM_005573 exon2 c.27267-117A>G 0.396965 0.3353 Uncertain 5_126145771_A->G 5 126145771 126145771 A G snp 832.77 1/1 63 27 0 27 1.0 intronic rs2271354 LMNB1 AD NM_001198557 exon4 c.4495-100A>G 0.689497 0.6607 Uncertain 5_126156532_T->- 5 126156532 126156532 T - indel 185.73 0/1 43 38 11 27 0.71 intronic rs34618438 LMNB1 AD NM_001198557 exon7 c.15225-69delT 0.470048 0.3462 Uncertain 5_126156538_T->G 5 126156538 126156538 T G snp 639.77 0/1 99 43 18 25 0.58 intronic rs6867254 LMNB1 AD NM_001198557 exon7 c.15225-63T>G 0.230431 0.3065 Uncertain 5_126168150_G->C 5 126168150 126168150 G C snp 86.28 1/1 9 3 0 3 1.0 intronic rs2973594 LMNB1 AD NM_001198557 exon10 c.27009-235G>C 0.672324 0.6627 Uncertain 5_126171999_T->C 5 126171999 126171999 T C snp 1405.77 1/1 99 52 0 52 1.0 UTR3 rs1051643 LMNB1 AD 0.672724 0.6627 0.652592 0.6751 0.6795 Uncertain 5_126187054_C->G 5 126187054 126187054 C G snp 81.78 0/1 24 4 1 3 0.75 intergenic rs867512 LMNB1 AD 0.482827 0.4593 Uncertain 5_126250459_-->ACACAC 5 126250459 126250459 - ACACAC indel 2090.73 ./1 99 33 4 29 0.88 intronic MARCH3 AU NM_178450 exon3 c.44297-162insACACAC Uncertain 5_126250459_-->ATACACACAC 5 126250459 126250459 - ATACACACAC indel 2090.73 ./1 99 33 4 29 0.88 intronic MARCH3 AU NM_178450 exon3 c.44297-162insATACACACAC Uncertain 5_126253539_T->- 5 126253539 126253539 T - indel 65.73 0/1 99 16 10 6 0.38 intronic rs36120055 MARCH3 AU NM_178450 exon4 c.47351-136delT Uncertain 5_126387694_A->G 5 126387694 126387694 A G snp 1132.77 0/1 99 109 59 50 0.46 intronic rs2240800 C5orf63 AU NM_001164478 exon1 c.177+55A>G 0.157748 0.3125 Uncertain 5_126387734_A->G 5 126387734 126387734 A G snp 1044.77 0/1 99 72 34 38 0.53 intronic rs73339251 C5orf63 AU NM_001164478 exon1 c.177+95A>G 0.141973 0.1012 Uncertain 5_126388165_C->A 5 126388165 126388165 C A snp 290.77 0/1 99 26 14 12 0.46 intronic rs73783518 C5orf63 AU NM_001164479 exon2 c.4943-139C>A 0.0231629 0.0278 Uncertain 5_126394484_C->T 5 126394484 126394484 C T snp 257.77 0/1 99 21 11 10 0.48 intronic rs17165251 C5orf63 AU NM_001164479 exon3 c.11212-89C>T 0.113019 0.1022 Uncertain 5_126667126_T->C 5 126667126 126667126 T C snp 2779.77 0/1 99 230 112 118 0.51 intronic rs10519949 MEGF10 AR NM_032446 exon3 c.116+10T>C 0.0607029 0.0972 0.025680 0.0351 0.1096 Uncertain 5_126674869_G->A 5 126674869 126674869 G A snp 2565.77 0/1 99 250 140 110 0.44 exonic rs12654455 MEGF10 AR synonymous SNV NM_032446 exon4 c.G174A p.T58T 0.0473243 0.0972 0.009688 0.0311 0.1091 Uncertain 5_126705465_GGAAC->- 5 126705465 126705469 GGAAC - indel 583.73 0/1 99 19 10 9 0.47 intronic rs141639621 MEGF10 AR NM_032446 exon6 c.38601-136_38601-132delGGAAC 0.0185703 0.0496 Uncertain 5_126732399_G->A 5 126732399 126732399 G A snp 2747.77 0/1 99 179 72 107 0.6 exonic rs3812055 MEGF10 AR synonymous SNV NM_032446 exon7 c.G588A p.Q196Q 0.166733 0.0972 0.173535 0.1537 0.0972 Uncertain 5_126734267_A->G 5 126734267 126734267 A G snp 83.77 0/1 99 18 14 4 0.22 intronic rs6595767 MEGF10 AR NM_032446 exon8 c.67367-100A>G 0.199681 0.0972 Uncertain 5_126734365_C->T 5 126734365 126734365 C T snp 450.77 0/1 99 66 44 22 0.33 splicing rs6595769 MEGF10 AR NM_032446 exon8 c.67367-2C>T 0.199681 0.0972 0.203598 0.1616 0.0966 Pathogenic 5_126745933_T->C 5 126745933 126745933 T C snp 200.77 0/1 63 9 3 6 0.67 intronic rs77896531 MEGF10 AR NM_032446 exon10 c.79080-147T>C 0.033147 0.0496 Uncertain 5_126745940_G->C 5 126745940 126745940 G C snp 193.77 0/1 99 13 5 8 0.62 intronic rs76221063 MEGF10 AR NM_032446 exon10 c.79080-140G>C 0.0341454 0.0496 Uncertain 5_126746001_C->G 5 126746001 126746001 C G snp 652.77 0/1 99 48 21 27 0.56 intronic rs80313631 MEGF10 AR NM_032446 exon10 c.79080-79C>G 0.033147 0.0496 Uncertain 5_126746277_C->T 5 126746277 126746277 C T snp 1926.77 1/1 99 70 0 70 1.0 exonic rs31483 MEGF10 AR synonymous SNV NM_032446 exon10 c.C1114T p.L372L 0.973442 1 0.940950 0.9447 0.9999 Uncertain 5_126769146_T->C 5 126769146 126769146 T C snp 1668.77 0/1 99 146 71 75 0.51 exonic rs11950427 MEGF10 AR synonymous SNV NM_032446 exon15 c.T1785C p.P595P 0.191494 0.0992 0.196525 0.1624 0.0986 Uncertain 5_126770359_G->A 5 126770359 126770359 G A snp 2823.77 0/1 99 250 129 121 0.48 intronic rs79904777 MEGF10 AR NM_032446 exon16 c.103378-19G>A 0.0197684 0.0536 0.011072 0.0178 0.0453 Uncertain 5_126774028_C->T 5 126774028 126774028 C T snp 507.77 0/1 99 44 23 21 0.48 intronic rs76148405 MEGF10 AR NM_032446 exon18 c.107130-102C>T 0.0347444 0.0536 Uncertain 5_126778850_C->T 5 126778850 126778850 C T snp 1675.77 0/1 99 141 70 71 0.5 intronic rs7737871 MEGF10 AR NM_032446 exon20 c.111818+32C>T 0.0728834 0.1071 0.052822 0.0580 0.0912 Uncertain 5_126781446_T->C 5 126781446 126781446 T C snp 602.77 0/1 99 50 26 24 0.48 intronic rs2270933 MEGF10 AR NM_032446 exon21 c.114385+61T>C 0.153355 0.1071 Uncertain 5_126791256_G->A 5 126791256 126791256 G A snp 1277.77 0/1 99 117 56 61 0.52 exonic rs56157640 MEGF10 AR synonymous SNV NM_032446 exon25 c.G3189A p.E1063E 0.0341454 0.0536 0.013609 0.0266 0.0458 Uncertain 5_126859406_G->A 5 126859406 126859406 G A snp 141.03 1/1 12 4 0 4 1.0 intronic rs31187 PRRC1 AU NM_130809 exon2 c.103+132G>A 0.386581 0.5496 Uncertain 5_126869270_T->G 5 126869270 126869270 T G snp 891.77 1/1 66 26 0 26 1.0 intronic rs233039 PRRC1 AU NM_130809 exon6 c.10143-44T>G 0.375 0.5506 0.295367 0.3435 0.5577 Uncertain 5_126887569_G->A 5 126887569 126887569 G A snp 2595.77 1/1 99 94 0 94 1.0 exonic rs7522 PRRC1 AU synonymous SNV NM_001286808 exon9 c.G1299A p.A433A 0.38778 0.5506 0.306243 0.3421 0.5531 Uncertain 5_126889370_C->T 5 126889370 126889370 C T snp 171.9 1/1 15 5 0 5 1.0 UTR3 rs435795 PRRC1 AU 0.529153 0.627 Uncertain 5_126889640_A->G 5 126889640 126889640 A G snp 2281.77 1/1 99 71 0 71 1.0 UTR3 rs418657 PRRC1 AU 0.387979 0.5506 0.3345 0.585 Uncertain 5_126993249_G->C 5 126993249 126993249 G C snp 1532.77 0/1 99 150 80 70 0.47 exonic rs45074 CTXN3 AU synonymous SNV NM_001048252 exon3 c.G36C p.V12V 0.650958 0.6141 0.705290 0.6498 0.6168 Uncertain 5_126993263_A->T 5 126993263 126993263 A T snp 1945.77 0/1 99 169 87 82 0.49 exonic rs248709 CTXN3 AU nonsynonymous SNV NM_001048252 exon3 c.A50T p.E17V 0.653355 0.6141 0.705367 0.6504 0.6179 0.35 T 0.0 P -0.981 T 0.0 T 0.0 T Pathogenic 5_127469859_A->G 5 127469859 127469859 A G snp 301.77 0/1 99 31 18 13 0.42 exonic rs2228112 SLC12A2 AU synonymous SNV NM_001046 exon6 c.A1191G p.E397E 0.394369 0.3294 0.355945 0.2795 0.3329 Uncertain 5_127477418_T->C 5 127477418 127477418 T C snp 83.77 0/1 69 5 2 3 0.6 intronic rs3805607 SLC12A2 AU NM_001046 exon10 c.57875-103T>C 0.356829 0.3304 Uncertain 5_127485599_C->T 5 127485599 127485599 C T snp 903.77 1/1 66 31 0 31 1.0 intronic rs2617618 SLC12A2 AU NM_001046 exon13 c.66042-89C>T 0.9998 1 Uncertain 5_127493679_A->G 5 127493679 127493679 A G snp 1118.77 0/1 99 65 29 36 0.55 intronic rs17164310 SLC12A2 AU NM_001046 exon16 c.74098-65A>G 0.243411 0.3165 Uncertain 5_127512873_A->C 5 127512873 127512873 A C snp 680.77 0/1 99 50 16 34 0.68 intronic rs1559263 SLC12A2 AU NM_001046 exon21 c.93198+29A>C 0.34385 0.3194 0.298092 0.2638 0.3224 Uncertain 5_127514436_A->T 5 127514436 127514436 A T snp 541.77 0/1 99 47 25 22 0.47 intronic rs17764954 SLC12A2 AU NM_001046 exon22 c.94735+55A>T 0.261382 0.3194 Uncertain 5_127522166_C->T 5 127522166 127522166 C T snp 89.77 0/1 99 75 55 20 0.27 intronic rs201680543 SLC12A2 AU NM_001046 exon27 c.102541-21C>T 0.0448 0.0326 Uncertain 5_127613791_C->G 5 127613791 127613791 C G snp 622.77 0/1 99 42 20 22 0.52 intronic rs426987 FBN2 AD NM_001999 exon8 c.18551+94C>G 0.725839 0.8532 Uncertain 5_127614472_A->G 5 127614472 127614472 A G snp 1231.77 0/1 99 103 50 53 0.51 exonic rs190450 FBN2 AD synonymous SNV NM_001999 exon57 c.T7200C p.S2400S 0.726637 0.8532 0.677918 0.7281 0.8721 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter|criteria_provided\x2c_single_submitter;CLNACC=RCV000117030.1|RCV000125075.1;CLNDSDB=MedGen|MedGen;CLNDSDBID=CN169374|CN221809 Uncertain 5_127622491_T->C 5 127622491 127622491 T C snp 1358.77 0/1 99 120 60 60 0.5 exonic rs32209 FBN2 AD nonsynonymous SNV NM_001999 exon55 c.A6931G p.M2311V 0.232827 0.5873 0.097801 0.1151 0.6314 0.3 T 0.898 P -0.959 T 0.0 T 0.001 T CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter|criteria_provided\x2c_single_submitter;CLNACC=RCV000117027.1|RCV000125071.1;CLNDSDB=MedGen|MedGen;CLNDSDBID=CN169374|CN221809 Pathogenic 5_127622609_-->T 5 127622609 127622609 - T indel 196.73 0/1 99 24 14 10 0.42 intronic rs3830367 FBN2 AD NM_001999 exon11 c.27395+68insT Uncertain 5_127623170_A->G 5 127623170 127623170 A G snp 1164.77 0/1 99 87 39 48 0.55 intronic rs42688 FBN2 AD NM_001999 exon12 c.27976+48A>G 0.233027 0.5873 0.097955 0.1149 0.6302 Uncertain 5_127623205_C->T 5 127623205 127623205 C T snp 634.77 0/1 99 50 25 25 0.5 intronic rs32210 FBN2 AD NM_001999 exon12 c.27976+83C>T 0.232827 0.5873 Uncertain 5_127640783_G->A 5 127640783 127640783 G A snp 738.77 0/1 99 77 40 37 0.48 intronic rs27713 FBN2 AD NM_001999 exon21 c.45628+9G>A 0.734425 0.8433 0.7258 0.8524 CLINSIG=probable-non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=no_assertion_criteria_provided|criteria_provided\x2c_single_submitter;CLNACC=RCV000117024.2|RCV000125064.1;CLNDSDB=MedGen|MedGen;CLNDSDBID=CN169374|CN221809 Uncertain 5_127640861_A->G 5 127640861 127640861 A G snp 37.77 0/1 66 7 5 2 0.29 intronic rs27855 FBN2 AD NM_001999 exon21 c.45628+87A>G 0.521366 0.7887 Uncertain 5_127648188_G->A 5 127648188 127648188 G A snp 331.77 0/1 99 25 13 12 0.48 intronic rs461146 FBN2 AD NM_001999 exon29 c.53179-137G>A 0.48762 0.7927 Uncertain 5_127666082_T->C 5 127666082 127666082 T C snp 74.77 0/1 99 6 3 3 0.5 intronic rs469913 FBN2 AD NM_001999 exon33 c.71118-182T>C 0.166933 0.5873 Uncertain 5_127671174_G->A 5 127671174 127671174 G A snp 2835.77 0/1 99 245 121 124 0.51 exonic rs192602314 FBN2 AD synonymous SNV NM_001999 exon29 c.C3820T p.L1274L 0.000199681 0.001 0.0001 0.0018 Uncertain 5_127671924_A->G 5 127671924 127671924 A G snp 1175.77 0/1 99 83 39 44 0.53 intronic rs32221 FBN2 AD NM_001999 exon38 c.76659+119A>G 0.541334 0.7907 Uncertain 5_127685135_C->T 5 127685135 127685135 C T snp 1337.77 1/1 96 53 0 53 1.0 exonic rs154001 FBN2 AD nonsynonymous SNV NM_001999 exon23 c.G2893A p.V965I 0.73103 0.9167 0.662156 0.7234 0.9366 0.34 T 0.956 P -0.947 T 0.118 T 0.073 T CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter|criteria_provided\x2c_single_submitter;CLNACC=RCV000117020.1|RCV000125040.1;CLNDSDB=MedGen|MedGen;CLNDSDBID=CN169374|CN221809 ID=CM1413000;DIS=Macular degeneration, age related, association with;TAG=DP;PUB=24899048 DP Pathogenic 5_127685624_C->A 5 127685624 127685624 C A snp 1357.77 0/1 99 132 70 62 0.47 intronic rs255690 FBN2 AD NM_001999 exon44 c.90500-22C>A 0.192492 0.124 0.270875 0.2809 0.1163 Uncertain 5_127692821_T->C 5 127692821 127692821 T C snp 114.77 0/1 99 8 4 4 0.5 intronic rs27457 FBN2 AD NM_001999 exon46 c.97821-146T>C 0.283147 0.1319 Uncertain 5_127777928_A->G 5 127777928 127777928 A G snp 1134.77 0/1 99 110 62 48 0.44 intronic rs17697995 FBN2 AD NM_001999 exon59 c.187027-4245A>G 0.0229633 0.0179 Uncertain 5_128326177_-->A 5 128326177 128326177 - A indel 1736.73 1/1 99 68 0 68 1.0 intronic rs143112605 SLC27A6 AU NM_014031 exon5 c.24327+20insA 0.20627 0.5734 0.058006 0.1287 0.5756 Uncertain 5_128351881_C->T 5 128351881 128351881 C T snp 212.84 1/1 18 6 0 6 1.0 intronic rs75602878 SLC27A6 AU NM_014031 exon6 c.49942+109C>T 0.190296 0.5139 Uncertain 5_128359247_T->C 5 128359247 128359247 T C snp 267.8 1/1 21 7 0 7 1.0 intronic rs31271 SLC27A6 AU NM_014031 exon7 c.57482-65T>C 0.820288 0.9732 Uncertain 5_128359297_-->T 5 128359297 128359297 - T indel 445.73 1/1 59 20 0 20 1.0 intronic rs200096085 SLC27A6 AU NM_014031 exon7 c.57482-15insT 0.307708 0.4157 0.2834 0.5056 Uncertain 5_128430757_T->C 5 128430757 128430757 T C snp 2309.77 1/1 99 67 0 67 1.0 exonic rs1127827 ISOC1 AU synonymous SNV NM_016048 exon1 c.T298C p.L100L 0.80651 0.8661 0.707276 0.7043 0.8736 Uncertain 5_128440496_C->T 5 128440496 128440496 C T snp 30.77 0/1 59 7 3 4 0.57 intronic ISOC1 AU NM_016048 exon2 c.10189-152C>T Uncertain 5_128440508_A->G 5 128440508 128440508 A G snp 576.77 1/1 45 17 0 17 1.0 intronic rs766328 ISOC1 AU NM_016048 exon2 c.10189-140A>G 0.568091 0.6687 Uncertain 5_128732672_A->G 5 128732672 128732672 A G snp 281.77 0/1 99 26 14 12 0.46 downstream rs13171514 MIR4460 AU 0.265575 0.2143 Uncertain 5_128863471_A->G 5 128863471 128863471 A G snp 760.77 1/1 57 31 0 31 1.0 exonic rs6595908 ADAMTS19 AU nonsynonymous SNV NM_133638 exon5 c.A1099G p.S367G 0.999201 1 0.996079 0.9954 1 0.000 P -0.956 T 0.0 T 0.0 T Pathogenic 5_128984787_A->G 5 128984787 128984787 A G snp 147.77 0/1 99 10 5 5 0.5 intronic rs30676 ADAMTS19 AU NM_133638 exon13 c.188561+124A>G 0.242212 0.3532 Uncertain 5_129015452_T->C 5 129015452 129015452 T C snp 399.77 0/1 99 26 8 18 0.69 splicing rs30645 ADAMTS19 AU NM_133638 exon17 c.219354-4T>C 0.317692 0.2361 0.414962 0.4652 0.2157 Pathogenic 5_129015668_T->C 5 129015668 129015668 T C snp 754.77 1/1 57 24 0 24 1.0 intronic rs246443 ADAMTS19 AU NM_133638 exon17 c.219512+54T>C 0.959265 0.999 Uncertain 5_129072943_G->T 5 129072943 129072943 G T snp 1101.77 1/1 81 37 0 37 1.0 UTR3 rs1465686 ADAMTS19 AU 0.953075 1 0.943795 0.9331 0.9981 Uncertain 5_129100820_C->- 5 129100820 129100820 C - indel 349.73 0/1 99 27 11 16 0.59 downstream rs35674869 KIAA1024L AU 0.477835 0.5496 Uncertain 5_129240972_G->C 5 129240972 129240972 G C snp 914.77 0/1 99 64 25 39 0.61 exonic rs33917 CHSY3 AU synonymous SNV NM_175856 exon1 c.G450C p.P150P 0.45647 0.5833 0.5691 0.6 Uncertain 5_129244133_A->G 5 129244133 129244133 A G snp 857.77 1/1 63 25 0 25 1.0 intronic rs2431206 CHSY3 AU NM_175856 exon2 c.3531+80A>G 0.933107 1 Uncertain 5_129519874_G->A 5 129519874 129519874 G A snp 713.77 1/1 54 20 0 20 1.0 intronic rs10066410 CHSY3 AU NM_175856 exon3 c.279399-47G>A 0.921326 1 0.878926 0.8876 0.9956 Uncertain 5_129520679_G->A 5 129520679 129520679 G A snp 1602.77 0/1 99 143 82 61 0.43 exonic rs10068403 CHSY3 AU nonsynonymous SNV NM_175856 exon3 c.G1844A p.G615E 0.170527 0.2579 0.079194 0.0703 0.2627 0.283 P -0.939 T 0.004 T 0.017 T Pathogenic 5_129521126_A->G 5 129521126 129521126 A G snp 2727.77 0/1 99 250 135 115 0.46 exonic rs2015018 CHSY3 AU nonsynonymous SNV NM_175856 exon3 c.A2291G p.D764G 0.565495 0.6647 0.609488 0.6882 0.6490 0.208 P -1.047 T 0.001 T 0.001 T Pathogenic 5_130500751_A->C 5 130500751 130500751 A C snp 1291.77 0/1 99 92 42 50 0.54 intronic rs2278060 HINT1 AR NM_005340 exon3 c.5648-36A>C 0.397165 0.2302 0.407350 0.3051 0.2467 0.003 P Uncertain 5_130506741_C->T 5 130506741 130506741 C T snp 644.77 0/1 99 64 32 32 0.5 intronic rs2285978 LYRM7 AR NM_001293735 exon1 c.18+10C>T 0.0167732 0.0804 0.000231 0.0080 0.0899 Uncertain 5_130726600_AAAATTCTGGG->- 5 130726600 130726610 AAAATTCTGGG - indel 1145.73 0/1 99 21 12 9 0.43 intronic rs147277736 CDC42SE2 AU NM_001038702 exon4 c.31499-85_31499-75delAAAATTCTGGG 0.297724 0.5069 Uncertain 5_130766662_T->C 5 130766662 130766662 T C snp 6195.77 1/1 99 209 0 209 1.0 exonic rs1291602 RAPGEF6 AU nonsynonymous SNV NM_016340 exon26 c.A4355G p.Q1452R 0.899161 0.9028 0.881978 0.8598 0.8893 1 T 1.0 P -0.959 T 0.0 T 0.0 T Pathogenic 5_130776053_C->A 5 130776053 130776053 C A snp 753.77 0/1 99 76 41 35 0.46 intronic rs1422081 RAPGEF6 AU NM_016340 exon5 c.12450+645C>A 0.29373 0.5169 Uncertain 5_130782456_T->C 5 130782456 130782456 T C snp 255.77 0/1 99 45 31 14 0.31 intronic RAPGEF6 AU NM_016340 exon7 c.19438+60T>C Uncertain 5_130788642_A->C 5 130788642 130788642 A C snp 149.77 0/1 99 30 22 8 0.27 intronic rs12656936 RAPGEF6 AU NM_016340 exon8 c.25788-104A>C 0.288738 0.5179 Uncertain 5_130788698_C->T 5 130788698 130788698 C T snp 701.77 0/1 99 97 68 29 0.3 intronic rs10054168 RAPGEF6 AU NM_016340 exon8 c.25788-48C>T 0.402556 0.5169 0.321006 0.2994 0.4733 Uncertain 5_130805475_C->T 5 130805475 130805475 C T snp 285.77 0/1 99 28 16 12 0.43 intronic rs56228197 RAPGEF6 AU NM_001164387 exon12 c.42535-18C>T 0.295527 0.5248 0.187061 0.2297 0.4702 Uncertain 5_130808198_T->C 5 130808198 130808198 T C snp 953.77 0/1 99 78 36 42 0.54 intronic rs31241 RAPGEF6 AU NM_016340 exon12 c.45321-81T>C 0.561502 0.4831 0.7343 0.6059 Uncertain 5_130831365_T->C 5 130831365 130831365 T C snp 874.77 0/1 99 85 44 41 0.48 intronic rs40400 RAPGEF6 AU NM_016340 exon16 c.68395+12T>C 0.702276 0.4831 0.801446 0.7488 0.5332 Uncertain 5_130867733_G->A 5 130867733 130867733 G A snp 1038.77 1/1 75 34 0 34 1.0 intronic rs1029472 RAPGEF6 AU NM_016340 exon22 c.94256+10519G>A 0.891573 0.7956 Uncertain 5_130982768_A->G 5 130982768 130982768 A G snp 2359.77 0/1 99 190 91 99 0.52 intronic rs26006 FNIP1 AU NM_133372 exon2 c.2405-14A>G 0.566893 0.4921 0.642703 0.6945 0.5230 Uncertain 5_131006082_A->G 5 131006082 131006082 A G snp 335.77 0/1 99 26 13 13 0.5 intronic rs27450 FNIP1 AU NM_133372 exon4 c.25778-73A>G 0.561901 0.4921 Uncertain 5_131006356_T->A 5 131006356 131006356 T A snp 422.77 0/1 99 33 16 17 0.52 intronic rs26007 FNIP1 AU NM_133372 exon4 c.25947+32T>A 0.71266 0.4911 0.804338 0.7572 0.5234 Uncertain 5_131008194_T->C 5 131008194 131008194 T C snp 7357.77 1/1 99 249 2 247 0.99 exonic rs26008 FNIP1 AU nonsynonymous SNV NM_133372 exon14 c.A1943G p.Q648R 0.867013 0.7946 0.925573 0.8901 0.7947 0.25 T 0.003 P -1.005 T 0.0 T 0.0 T Pathogenic 5_131066577_A->C 5 131066577 131066577 A C snp 1080.77 0/1 99 80 31 49 0.61 intronic rs7729787 FNIP1 AU NM_133372 exon16 c.86219-19A>C 0.57528 0.4921 0.657235 0.7026 0.5262 Uncertain 5_131066725_C->A 5 131066725 131066725 C A snp 3081.77 1/1 99 113 0 113 1.0 exonic rs7730228 FNIP1 AU nonsynonymous SNV NM_133372 exon3 c.G226T p.G76C 0.997804 0.999 0.996771 0.9957 0.9999 0.27 T 0.000 P -0.974 T 0.0 T 0.0 T Pathogenic 5_131283376_C->T 5 131283376 131283376 C T snp 1634.77 0/1 99 186 110 76 0.41 intergenic rs683749 MEIKIN AU 0.286342 0.501 0.189114 0.2914 0.5026 Uncertain 5_131283542_A->- 5 131283542 131283542 A - indel 179.73 0/1 72 12 3 9 0.75 intergenic rs34365565 MEIKIN AU 0.326078 0.501 Uncertain 5_131312327_G->T 5 131312327 131312327 G T snp 5884.77 1/1 99 210 0 210 1.0 intronic rs370652 ACSL6 AU NM_001205248 exon12 c.22414-13G>T 0.897564 0.9187 0.876903 0.8521 0.9002 Uncertain 5_131320942_A->T 5 131320942 131320942 A T snp 445.77 0/1 99 36 18 18 0.5 intronic rs422291 ACSL6 AU NM_001205248 exon13 c.31173-157A>T 0.312899 0.5308 Uncertain 5_131320960_T->- 5 131320960 131320960 T - indel 665.73 0/1 99 46 26 20 0.43 intronic rs67060241 ACSL6 AU NM_001205248 exon13 c.31173-139delT 0.453075 0.5198 Uncertain 5_131320961_C->G 5 131320961 131320961 C G snp 513.77 0/1 99 46 26 20 0.43 intronic rs115222986 ACSL6 AU NM_001205248 exon13 c.31173-138C>G 0.455072 0.5258 Uncertain 5_131326523_C->- 5 131326523 131326523 C - indel 2509.73 1/1 99 86 0 86 1.0 intronic rs397829857 ACSL6 AU NM_001205248 exon19 c.36619-22delC 0.98103 0.9792 0.9911 0.9743 Uncertain 5_131396478_C->T 5 131396478 131396478 C T snp 1446.77 1/1 99 53 0 53 1.0 exonic rs40401 IL3 AU nonsynonymous SNV NM_000588 exon1 c.C79T p.P27S 0.419529 0.5714 0.324389 0.2916 0.5181 0.81 T 0.0 P -0.937 T 0.032 T 0.03 T ID=CM0910115;DIS=Graves disease, association with;TAG=DP;PUB=19262575 DP Pathogenic 5_131411460_T->C 5 131411460 131411460 T C snp 5873.77 1/1 99 216 0 216 1.0 exonic rs25882 CSF2 AU nonsynonymous SNV NM_000758 exon4 c.T350C p.I117T 0.34984 0.622 0.248424 0.2644 0.6018 0.55 T 0.0 P -0.927 T 0.0 T 0.004 T ID=CM004548;DIS=Chronic obstructive pulmonary disease, association with;TAG=DP;PUB=17681858 DP Pathogenic 5_131528850_C->G 5 131528850 131528850 C G snp 1966.77 0/1 99 177 93 84 0.47 intronic rs77183859 P4HA2 AU NM_004199 exon1 c.71+77C>G 0.00339457 0.0119 Uncertain 5_131530441_A->G 5 131530441 131530441 A G snp 599.77 0/1 99 29 12 17 0.59 intronic rs2278398 P4HA2 AU NM_004199 exon2 c.1916-177A>G 0.225439 0.1925 Uncertain 5_131534499_C->T 5 131534499 131534499 C T snp 301.77 0/1 99 36 23 13 0.36 intronic rs3749756 P4HA2 AU NM_004199 exon5 c.5869-72C>T 0.226038 0.1925 0.370127 Uncertain 5_131539374_C->- 5 131539374 131539374 C - indel 2112.73 0/1 99 137 73 64 0.47 intronic rs79217562 P4HA2 AU NM_004199 exon6 c.10738-66delC 0.0605032 0.1032 Uncertain 5_131546280_A->G 5 131546280 131546280 A G snp 1219.77 0/1 99 94 45 49 0.52 intronic rs154483 P4HA2 AU NM_004199 exon10 c.17514+64A>G 0.526558 0.5288 Uncertain 5_131553340_C->A 5 131553340 131553340 C A snp 70.77 0/1 99 10 6 4 0.4 intronic rs2301579 P4HA2 AU NM_004199 exon13 c.24742-104C>A 0.25599 0.1984 0.4059 0.2687 Uncertain 5_131553428_-->A 5 131553428 131553428 - A indel 872.73 0/1 99 61 36 25 0.41 intronic rs3214098 P4HA2 AU NM_004199 exon13 c.24742-16insA 0.25599 0.1984 0.395527 0.3562 0.2347 Uncertain 5_131553665_A->G 5 131553665 131553665 A G snp 200.77 0/1 54 9 2 7 0.78 intronic rs154485 P4HA2 AU NM_004199 exon13 c.24839+124A>G 0.527157 0.5298 Uncertain 5_131593336_-->G 5 131593336 131593336 - G indel 409.73 1/1 36 12 0 12 1.0 upstream rs536988821 PDLIM4 AD 0.998003 0.999 Uncertain 5_131607080_A->G 5 131607080 131607080 A G snp 765.77 0/1 99 84 47 37 0.44 exonic rs270619 PDLIM4 AD synonymous SNV NM_001131027 exon5 c.A591G p.P197P 0.290136 0.4673 0.217331 0.1497 0.4144 Uncertain 5_131607282_C->G 5 131607282 131607282 C G snp 1295.77 0/1 99 132 80 52 0.39 intronic rs2292259 PDLIM4 AD NM_001131027 exon5 c.13732+123C>G 0.102037 0.1835 0.0478 0.2229 Uncertain 5_131607297_A->G 5 131607297 131607297 A G snp 1537.77 0/1 99 151 90 61 0.4 intronic rs162886 PDLIM4 AD NM_001131027 exon5 c.13732+138A>G 0.278554 0.4673 0.1625 0.4743 Uncertain 5_131607320_C->T 5 131607320 131607320 C T snp 1573.77 0/1 99 163 100 63 0.39 intronic rs162885 PDLIM4 AD NM_001131027 exon5 c.13732+161C>T 0.101238 0.1835 0.0526 0.2551 Uncertain 5_131607494_C->T 5 131607494 131607494 C T snp 2829.77 0/1 99 245 127 118 0.48 exonic rs162884 PDLIM4 AD synonymous SNV NM_003687 exon6 c.C681T p.P227P 0.113019 0.1835 0.065298 0.0457 0.1843 Uncertain 5_131607942_G->C 5 131607942 131607942 G C snp 2521.77 0/1 99 249 142 107 0.43 UTR3 rs9895 PDLIM4 AD 0.290335 0.4673 0.220778 0.1564 0.4237 Uncertain 5_131649186_A->G 5 131649186 131649186 A G snp 107.77 0/1 99 11 7 4 0.36 ncRNA_intronic rs270607 LOC553103 AU 0.657149 0.6558 Uncertain 5_131658085_T->C 5 131658085 131658085 T C snp 1921.77 1/1 99 69 0 69 1.0 ncRNA_intronic rs270600 LOC553103 AU 0.99361 0.9702 0.999692 0.9969 0.9641 Uncertain 5_131660119_G->C 5 131660119 131660119 G C snp 136.77 0/1 99 15 9 6 0.4 ncRNA_intronic rs273915 LOC553103 AU 0.671526 0.6558 0.5922 0.6584 Uncertain 5_131660431_A->T 5 131660431 131660431 A T snp 140.77 0/1 99 19 12 7 0.37 ncRNA_intronic rs273914 LOC553103 AU 0.519569 0.3274 Uncertain 5_131663062_T->C 5 131663062 131663062 T C snp 1227.77 0/1 99 146 84 62 0.42 exonic rs272893 SLC22A4 AU nonsynonymous SNV NM_003059 exon5 c.T917C p.I306T 0.554113 0.3512 0.657158 0.5767 0.3759 0.06 T 0.0 P -0.982 T 0.002 T 0.012 T Pathogenic 5_131670546_C->G 5 131670546 131670546 C G snp 1004.77 0/1 99 85 40 45 0.53 exonic rs272879 SLC22A4 AU synonymous SNV NM_003059 exon7 c.C1182G p.T394T 0.520168 0.3304 0.623789 0.5613 0.3611 Uncertain 5_131671769_T->C 5 131671769 131671769 T C snp 233.77 0/1 99 18 9 9 0.5 ncRNA_intronic rs272878 LOC553103 AU 0.671526 0.6558 Uncertain 5_131701279_T->C 5 131701279 131701279 T C snp 907.77 0/1 99 67 30 37 0.55 ncRNA_exonic rs367805 MIR3936 AU 0.652556 0.6548 0.6907 0.6970 Uncertain 5_131705949_T->C 5 131705949 131705949 T C snp 1275.77 0/1 99 111 57 54 0.49 exonic rs2631365 SLC22A5 AR synonymous SNV NM_003060 exon1 c.T285C p.L95L 0.486222 0.6736 0.349701 0.4968 0.6512 CLINSIG=untested,non-pathogenic;CLNDBN=Renal_carnitine_transport_defect,not_specified;CLNREVSTAT=no_assertion_provided,criteria_provided\x2c_single_submitter;CLNACC=RCV000022310.2,RCV000080053.3;CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT,MedGen;CLNDSDBID=NBK84551:C0342788:212140:ORPHA158:21764004,CN169374 Uncertain 5_131719999_A->G 5 131719999 131719999 A G snp 2134.77 1/1 99 78 0 78 1.0 splicing rs4551059 SLC22A5 AR NM_003060 exon3 c.14329+6A>G 1 1 1 1 CLINSIG=untested|non-pathogenic|non-pathogenic;CLNDBN=Renal_carnitine_transport_defect|not_specified|not_provided;CLNREVSTAT=no_assertion_provided|criteria_provided\x2c_single_submitter|criteria_provided\x2c_single_submitter;CLNACC=RCV000022335.2|RCV000080057.3|RCV000128067.1;CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT|MedGen|MedGen;CLNDSDBID=NBK84551:C0342788:212140:ORPHA158:21764004|CN169374|CN221809 Pathogenic 5_131720070_A->G 5 131720070 131720070 A G snp 506.77 0/1 99 27 9 18 0.67 intronic rs274559 SLC22A5 AR NM_003060 exon3 c.14329+77A>G 0.486022 0.6736 CLINSIG=untested;CLNDBN=Renal_carnitine_transport_defect;CLNREVSTAT=no_assertion_provided;CLNACC=RCV000022336.2;CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT;CLNDSDBID=NBK84551:C0342788:212140:ORPHA158:21764004 Uncertain 5_131721174_A->G 5 131721174 131721174 A G snp 2175.77 0/1 99 194 99 95 0.49 exonic rs274558 SLC22A5 AR synonymous SNV NM_003060 exon4 c.A807G p.L269L 0.486222 0.6736 0.378287 0.4393 0.6407 CLINSIG=untested,non-pathogenic;CLNDBN=Renal_carnitine_transport_defect,not_specified;CLNREVSTAT=no_assertion_provided,criteria_provided\x2c_single_submitter;CLNACC=RCV000022346.2,RCV000080060.3;CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT,MedGen;CLNDSDBID=NBK84551:C0342788:212140:ORPHA158:21764004,CN169374 Uncertain 5_131721204_T->C 5 131721204 131721204 T C snp 2052.77 0/1 99 192 98 94 0.49 intronic rs274557 SLC22A5 AR NM_003060 exon4 c.15527+13T>C 0.486022 0.6736 0.373904 0.4399 0.6409 CLINSIG=untested,non-pathogenic;CLNDBN=Renal_carnitine_transport_defect,not_specified;CLNREVSTAT=no_assertion_provided,criteria_provided\x2c_single_submitter;CLNACC=RCV000022347.2,RCV000080061.3;CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT,MedGen;CLNDSDBID=NBK84551:C0342788:212140:ORPHA158:21764004,CN169374 Uncertain 5_131722951_C->T 5 131722951 131722951 C T snp 680.77 1/1 51 21 0 21 1.0 intronic rs274555 SLC22A5 AR NM_003060 exon5 c.17179+108C>T 0.569289 0.8938 Uncertain 5_131724762_T->A 5 131724762 131724762 T A snp 351.77 0/1 99 33 19 14 0.42 intronic rs144619991 SLC22A5 AR NM_003060 exon6 c.19049+49T>A 0.00219649 0.0079 0.0012 0.0149 Uncertain 5_131730053_A->- 5 131730053 131730053 A - indel 3821.73 1/1 99 106 0 106 1.0 UTR3 rs397999277 SLC22A5 AR 0.755192 0.9018 Uncertain 5_131755477_G->T 5 131755477 131755477 G T snp 269.8 1/1 21 8 0 8 1.0 ncRNA_intronic rs4451042 C5orf56 AU 0.855232 0.9782 Uncertain 5_131755651_C->T 5 131755651 131755651 C T snp 738.77 0/1 99 83 45 38 0.46 ncRNA_intronic rs1003533 C5orf56 AU 0.272165 0.3313 0.210980 0.2435 0.3459 Uncertain 5_131792639_-->T 5 131792639 131792639 - T indel 521.73 0/1 99 59 34 25 0.42 ncRNA_intronic rs3214157 C5orf56 AU 0.450879 0.3492 Uncertain 5_131796498_T->C 5 131796498 131796498 T C snp 5628.77 1/1 99 203 0 203 1.0 ncRNA_intronic rs2522048 C5orf56 AU 0.979832 1 0.984313 0.9957 1 Uncertain 5_131796573_T->C 5 131796573 131796573 T C snp 3549.77 1/1 99 126 0 126 1.0 ncRNA_intronic rs2522049 C5orf56 AU 0.979832 1 0.9939 1 Uncertain 5_131796609_C->T 5 131796609 131796609 C T snp 829.77 0/1 99 72 39 33 0.46 ncRNA_intronic rs2522050 C5orf56 AU 0.312101 0.3899 Uncertain 5_131805591_G->T 5 131805591 131805591 G T snp 115.77 0/1 99 12 6 6 0.5 ncRNA_intronic rs2522063 C5orf56 AU 0.302516 0.3651 Uncertain 5_131805735_C->T 5 131805735 131805735 C T snp 809.77 0/1 99 105 68 37 0.35 ncRNA_intronic rs2706379 C5orf56 AU 0.302516 0.3651 0.3050 0.3740 0 D 0.0 P -0.971 T Uncertain 5_131819798_T->C 5 131819798 131819798 T C snp 945.77 0/1 99 90 49 41 0.46 intronic rs2070731 IRF1 AU NM_002198 exon1 c.125+31T>C 0.365615 0.3829 0.337460 0.3378 0.3443 Uncertain 5_131819800_G->A 5 131819800 131819800 G A snp 913.77 0/1 99 88 47 41 0.47 intronic rs2070730 IRF1 AU NM_002198 exon1 c.125+33G>A 0.40615 0.3829 0.378056 0.3534 0.3440 Uncertain 5_131819921_C->A 5 131819921 131819921 C A snp 1011.77 1/1 75 27 0 27 1.0 intronic rs2070729 IRF1 AU NM_002198 exon2 c.411-132C>A 0.60603 0.7123 Uncertain 5_131819970_T->C 5 131819970 131819970 T C snp 762.77 0/1 99 45 17 28 0.62 intronic rs7701588 IRF1 AU NM_002198 exon2 c.411-83T>C 0.40595 0.3829 Uncertain 5_131819977_C->T 5 131819977 131819977 C T snp 740.77 0/1 99 48 19 29 0.6 intronic rs2070728 IRF1 AU NM_002198 exon2 c.411-76C>T 0.40615 0.3829 Uncertain 5_131820275_C->A 5 131820275 131820275 C A snp 37.77 0/1 66 8 5 3 0.38 intronic rs2070727 IRF1 AU NM_002198 exon2 c.547+86C>A 0.40615 0.3829 Uncertain 5_131821188_C->T 5 131821188 131821188 C T snp 263.77 0/1 91 13 3 10 0.77 intronic rs17848418 IRF1 AU NM_002198 exon3 c.1716-170C>T 0.40615 0.3829 Uncertain 5_131821246_G->A 5 131821246 131821246 G A snp 544.77 0/1 99 35 13 22 0.63 intronic rs10068129 IRF1 AU NM_002198 exon3 c.1716-112G>A 0.40615 0.3829 Uncertain 5_131821738_C->A 5 131821738 131821738 C A snp 74.77 0/1 99 9 6 3 0.33 intronic rs2070726 IRF1 AU NM_002198 exon4 c.2300-204C>A 0.40655 0.3829 Uncertain 5_131821788_C->T 5 131821788 131821788 C T snp 317.77 0/1 99 35 21 14 0.4 intronic rs2070725 IRF1 AU NM_002198 exon4 c.2300-154C>T 0.40655 0.3829 Uncertain 5_131821866_T->G 5 131821866 131821866 T G snp 1325.77 0/1 99 117 56 61 0.52 intronic rs10214312 IRF1 AU NM_002198 exon4 c.2300-76T>G 0.40655 0.3829 0.3612 0.3462 Uncertain 5_131822055_T->C 5 131822055 131822055 T C snp 2366.77 0/1 99 213 112 101 0.47 exonic rs9282762 IRF1 AU synonymous SNV NM_002198 exon7 c.A555G p.P185P 0.40655 0.3829 0.381670 0.3541 0.3435 Uncertain 5_131822072_A->G 5 131822072 131822072 A G snp 2511.77 0/1 99 234 123 111 0.47 intronic rs2070724 IRF1 AU NM_002198 exon4 c.2423+7A>G 0.40655 0.3829 0.375442 0.3542 0.3431 Uncertain 5_131822133_T->C 5 131822133 131822133 T C snp 2853.77 0/1 99 244 133 111 0.45 intronic rs9282763 IRF1 AU NM_002198 exon4 c.2423+68T>C 0.40655 0.3829 0.3539 0.3439 Uncertain 5_131822224_T->C 5 131822224 131822224 T C snp 3098.77 0/1 99 250 129 121 0.48 intronic rs9282761 IRF1 AU NM_002198 exon5 c.2606-24T>C 0.40655 0.3829 0.383285 0.3551 0.3488 Uncertain 5_131823519_A->G 5 131823519 131823519 A G snp 185.77 0/1 99 11 5 6 0.55 intronic rs13170412 IRF1 AU NM_002198 exon8 c.3975-98A>G 0.36861 0.3829 Uncertain 5_131823862_-->TG 5 131823862 131823862 - TG indel 451.73 0/1 99 15 5 10 0.67 intronic rs35829610 IRF1 AU NM_002198 exon8 c.4075+145insTG 0.40655 0.3829 Uncertain 5_131892357_C->T 5 131892357 131892357 C T snp 4879.77 1/1 99 189 0 189 1.0 upstream rs2706335 RAD50 AU 0.971046 1 0.9938 1 Uncertain 5_131892979_G->A 5 131892979 131892979 G A snp 4062.77 1/1 99 140 0 140 1.0 UTR5 rs4526098 RAD50 AU 0.92492 0.999 0.918730 0.9752 1 CLINSIG=non-pathogenic;CLNDBN=Hereditary_cancer-predisposing_syndrome;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000160912.1;CLNDSDB=MedGen:SNOMED_CT;CLNDSDBID=C0027672:699346009 Uncertain 5_131972954_A->G 5 131972954 131972954 A G snp 555.77 0/1 99 53 30 23 0.43 intronic rs17166112 RAD50 AU NM_005732 exon22 c.79876+62A>G 0.0389377 0.1815 Uncertain 5_131995843_T->C 5 131995843 131995843 T C snp 3574.77 1/1 99 106 0 106 1.0 intronic rs1295686 IL13 AU,AD NM_002188 exon4 c.1988-23T>C 0.578075 0.6438 0.650085 0.6857 0.6752 Uncertain 5_131995964_A->G 5 131995964 131995964 A G snp 6968.77 1/1 99 248 0 248 1.0 exonic rs20541 IL13 AU,AD nonsynonymous SNV NM_002188 exon4 c.A431G p.Q144R 0.730032 0.6399 0.812702 0.7336 0.6723 0.88 T 0.0 P -1.055 T CLINSIG=other|other;CLNDBN=Asthma\x2c_susceptibility_to|Allergic_rhinitis\x2c_susceptibility_to;CLNREVSTAT=no_assertion_criteria_provided|no_assertion_criteria_provided;CLNACC=RCV000015785.1|RCV000015786.1;CLNDSDB=MedGen:OMIM|.;CLNDSDBID=C1869116:600807|. ID=CM000405;DIS=Asthma, association with;TAG=DFP;PUB=10699178 DFP Pathogenic 5_132009710_C->T 5 132009710 132009710 C T snp 3406.77 1/1 99 127 1 126 0.99 UTR5 rs2070874 IL4 AU 0.401158 0.7788 0.227280 0.2670 0.7842 ID=CR068466;DIS=Bronchial asthma, association with;TAG=DFP;PUB=16931887 DFP Uncertain 5_132017944_A->G 5 132017944 132017944 A G snp 174.9 1/1 15 5 0 5 1.0 intronic rs2243288 IL4 AU NM_172348 exon3 c.8435-233A>G 0.446885 0.7808 Uncertain 5_132018132_A->G 5 132018132 132018132 A G snp 3815.77 1/1 99 137 0 137 1.0 intronic rs2243289 IL4 AU NM_172348 exon3 c.8435-45A>G 0.345847 0.7827 0.174996 0.2506 0.7888 Uncertain 5_132018169_C->A 5 132018169 132018169 C A snp 4104.77 1/1 99 157 0 157 1.0 intronic rs2243290 IL4 AU NM_172348 exon3 c.8435-8C>A 0.373403 0.7827 0.204137 0.2589 0.7906 Uncertain 5_132036252_T->C 5 132036252 132036252 T C snp 5341.77 1/1 99 202 0 202 1.0 intronic rs1468216 KIF3A AU NM_001300792 exon4 c.4013-86T>C 0.845048 0.9196 Uncertain 5_132042146_C->T 5 132042146 132042146 C T snp 877.77 1/1 63 34 0 34 1.0 exonic rs3798130 KIF3A AU nonsynonymous SNV NM_001300792 exon10 c.G1234A p.A412T 0.433706 0.753 0.2244 0.7275 0.56 T 0.162 P -0.953 T 0.0 T 0.0 T Pathogenic 5_132044738_C->G 5 132044738 132044738 C G snp 1469.77 1/1 99 46 0 46 1.0 intronic rs2299006 KIF3A AU NM_001300791 exon10 c.12345+68C>G Uncertain 5_132046590_C->T 5 132046590 132046590 C T snp 4700.77 1/1 99 163 0 163 1.0 intronic rs7737031 KIF3A AU NM_001300792 exon10 c.14325-60C>T 0.367612 0.753 Uncertain 5_132069847_G->T 5 132069847 132069847 G T snp 99.28 1/1 9 4 0 4 1.0 intronic rs9784600 KIF3A AU NM_001300792 exon17 c.37571-49G>T 0.432308 0.744 0.285802 0.2880 0.7733 Uncertain 5_132070242_C->T 5 132070242 132070242 C T snp 176.9 1/1 15 6 0 6 1.0 intronic rs7732520 KIF3A AU NM_001300792 exon17 c.37845+72C>T 0.9998 1 Uncertain 5_132073002_A->G 5 132073002 132073002 A G snp 2942.77 1/1 99 107 0 107 1.0 intronic rs2277065 KIF3A AU NM_001300792 exon18 c.40780-103A>G 0.335663 0.7133 Uncertain 5_132083458_G->C 5 132083458 132083458 G C snp 903.77 1/1 66 30 0 30 1.0 exonic rs803056 CCNI2 AU nonsynonymous SNV NM_001039780 exon1 c.G271C p.A91P 0.475639 0.7123 0.1731 0.7267 0.59 T 0.0 P -1.002 T 0.0 T 0.0 T Pathogenic 5_132083988_GG->- 5 132083988 132083989 GG - indel 478.73 0/1 99 30 19 11 0.37 intronic rs150066863 CCNI2 AU NM_001287253 exon2 c.848-47_848-46delGG 0.0311502 0.1339 0.001198 0.0195 0.1660 Uncertain 5_132084229_A->G 5 132084229 132084229 A G snp 553.77 0/1 99 40 20 20 0.5 intronic rs72799426 CCNI2 AU NM_001287253 exon2 c.980+62A>G 0.0914537 0.2192 Uncertain 5_132084956_G->A 5 132084956 132084956 G A snp 2693.77 1/1 99 90 0 90 1.0 intronic rs803055 CCNI2 AU NM_001287253 exon3 c.1852-83G>A 0.476438 0.7113 Uncertain 5_132086817_G->C 5 132086817 132086817 G C snp 997.77 1/1 72 33 0 33 1.0 UTR3 rs708461 SEPT8 AU 0.471046 0.7113 Uncertain 5_132093994_C->T 5 132093994 132093994 C T snp 518.77 1/1 39 16 0 16 1.0 UTR3 rs42403 SEPT8 AU 0.360423 0.7183 Uncertain 5_132096323_-->AAAG 5 132096323 132096323 - AAAG indel 505.75 1/1 24 8 0 8 1.0 intronic rs2067190 SEPT8 AU NM_001098811 exon2 c.8786-170insAAAG 0.489018 0.7183 Uncertain 5_132096477_C->T 5 132096477 132096477 C T snp 1870.77 0/1 99 189 107 82 0.43 intronic rs117597927 SEPT8 AU NM_001098811 exon2 c.8786-16C>T 0.0155751 0.0744 0.000236 0.0083 0.1008 Uncertain 5_132098242_A->G 5 132098242 132098242 A G snp 5262.77 1/1 99 199 0 199 1.0 exonic rs30510 SEPT8 AU synonymous SNV NM_001098811 exon5 c.T630C p.N210N 0.998403 0.999 0.993625 0.9950 0.9980 Uncertain 5_132098420_A->C 5 132098420 132098420 A C snp 760.77 1/1 57 21 0 21 1.0 intronic rs30509 SEPT8 AU NM_001098811 exon6 c.10630+83A>C 0.469848 0.7183 Uncertain 5_132099999_A->G 5 132099999 132099999 A G snp 3824.77 1/1 99 133 0 133 1.0 exonic rs30507 SEPT8 AU synonymous SNV NM_001098811 exon3 c.T264C p.Y88Y 0.500799 0.747 0.338027 0.2653 0.7845 Uncertain 5_132149684_G->C 5 132149684 132149684 G C snp 1952.77 1/1 99 63 0 63 1.0 exonic rs40274 SOWAHA AU nonsynonymous SNV NM_175873 exon1 c.G371C p.R124P 0.977065 0.9764 1 0.28 T 0.0 P -0.976 T 0.0 T 0.0 T Pathogenic 5_132150948_T->G 5 132150948 132150948 T G snp 5219.77 1/1 99 196 0 196 1.0 exonic rs40470 SOWAHA AU nonsynonymous SNV NM_175873 exon1 c.T1635G p.F545L 1 1 1 1 1 T 0.0 P -0.987 T 0.0 T 0.0 T Pathogenic 5_132159393_G->A 5 132159393 132159393 G A snp 1429.77 0/1 99 128 68 60 0.47 exonic rs33935150 SHROOM1 AU synonymous SNV NM_001172700 exon8 c.C1875T p.N625N 0.0756789 0.1349 0.054667 0.0315 0.1359 Uncertain 5_132159520_T->A 5 132159520 132159520 T A snp 2247.77 0/1 99 203 103 100 0.49 intronic rs66542366 SHROOM1 AU NM_133456 exon4 c.1054-21T>A 0.251997 0.253 0.231154 0.1879 0.2579 Uncertain 5_132198100_C->T 5 132198100 132198100 C T snp 2285.77 0/1 99 203 108 95 0.47 exonic rs10491279 GDF9 AU synonymous SNV NM_005260 exon2 c.G546A p.E182E 0.134784 0.1498 0.185530 0.1426 0.1516 CLINSIG=non-pathogenic;CLNDBN=not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000125220.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Uncertain 5_132198199_G->A 5 132198199 132198199 G A snp 1249.77 0/1 99 102 54 48 0.47 exonic rs254286 GDF9 AU synonymous SNV NM_005260 exon2 c.C447T p.T149T 0.455871 0.2897 0.505307 0.5276 0.2819 ID=CM056327;DIS=Premature ovarian failure, increased risk, association with;TAG=DP;PUB=16278619 DP Uncertain 5_132198287_C->G 5 132198287 132198287 C G snp 552.77 1/1 42 14 0 14 1.0 intronic rs254285 GDF9 AU NM_001288825 exon1 c.968+39C>G 0.818291 0.5556 0.926452 0.8401 0.5567 Uncertain 5_132203152_T->G 5 132203152 132203152 T G snp 420.77 0/1 99 60 38 22 0.37 intronic rs80192278 UQCRQ AR NM_014402 exon3 c.606-27T>G 0.0365415 0.131 0.010380 0.0141 0.1444 Uncertain 5_132209379_CT->- 5 132209379 132209380 CT - indel 4158.73 0/1 99 173 80 93 0.54 UTR5 rs3215122 LEAP2 AU 0.0407348 0.1329 0.013978 0.0140 0.1312 Uncertain 5_132227677_A->G 5 132227677 132227677 A G snp 688.77 1/1 51 21 0 21 1.0 intronic rs6596093 AFF4 AD NM_014423 exon9 c.11105-178A>G 0.815096 0.5496 Uncertain 5_132228133_A->G 5 132228133 132228133 A G snp 464.77 0/1 99 28 10 18 0.64 intronic rs11739417 AFF4 AD NM_014423 exon9 c.11346+37A>G 0.171925 0.1429 0.230734 0.1684 0.1470 Uncertain 5_132234152_-->G 5 132234152 132234152 - G indel 808.73 1/1 60 22 0 22 1.0 intronic rs34099243 AFF4 AD NM_014423 exon12 c.17334+68insG 0.808706 0.5417 Uncertain 5_132269749_G->C 5 132269749 132269749 G C snp 88.28 1/1 9 3 0 3 1.0 intronic rs3798124 AFF4 AD NM_014423 exon19 c.53088-89G>C 0.0297524 0.1438 Uncertain 5_132334252_A->G 5 132334252 132334252 A G snp 1440.77 0/1 99 129 64 65 0.5 UTR3 rs3087646 ZCCHC10 AU 0.357428 0.3968 0.370339 0.2841 0.4053 Uncertain 5_132335951_A->G 5 132335951 132335951 A G snp 1967.77 0/1 99 173 89 84 0.49 intronic rs2059783 ZCCHC10 AU NM_001300822 exon2 c.1357+58A>G 0.323882 0.3978 Uncertain 5_132336091_C->T 5 132336091 132336091 C T snp 111.77 0/1 99 9 5 4 0.44 intronic rs2059782 ZCCHC10 AU NM_001300822 exon2 c.1357+198C>T 0.323682 0.3968 Uncertain 5_132336102_G->C 5 132336102 132336102 G C snp 66.77 0/1 95 7 4 3 0.43 intronic rs2059781 ZCCHC10 AU NM_001300822 exon2 c.1357+209G>C 0.323482 0.3968 Uncertain 5_132362336_-->G 5 132362336 132362336 - G indel 389.73 0/1 99 23 7 16 0.7 upstream rs147467222 ZCCHC10 AU 0.315895 0.3938 Uncertain 5_132388068_T->G 5 132388068 132388068 T G snp 1959.77 0/1 99 144 63 81 0.56 intronic rs76836760 HSPA4 AU NM_002154 exon1 c.107+19T>G 0.226238 0.0913 0.259227 0.3298 0.1691 Uncertain 5_132403057_-->A 5 132403057 132403057 - A indel 337.73 0/1 99 43 25 18 0.42 intronic rs11448270 HSPA4 AU NM_002154 exon3 c.15166-51insA 0.211262 0.1161 0.233146 Uncertain 5_132403341_C->T 5 132403341 132403341 C T snp 876.77 1/1 66 26 0 26 1.0 intronic rs6596098 HSPA4 AU NM_002154 exon3 c.15307+92C>T 0.389177 0.3859 Uncertain 5_132403359_T->A 5 132403359 132403359 T A snp 542.77 1/1 42 16 0 16 1.0 intronic rs6596099 HSPA4 AU NM_002154 exon3 c.15307+110T>A 0.384185 0.3859 Uncertain 5_132409074_A->G 5 132409074 132409074 A G snp 1141.77 0/1 99 100 45 55 0.55 intronic rs56121115 HSPA4 AU NM_002154 exon5 c.21079+53A>G 0.194289 0.0913 Uncertain 5_132409650_C->T 5 132409650 132409650 C T snp 525.77 0/1 99 36 15 21 0.58 intronic rs62375234 HSPA4 AU NM_002154 exon6 c.21742-34C>T 0.219649 0.0913 0.263138 0.2672 0.1240 Uncertain 5_132409867_T->G 5 132409867 132409867 T G snp 154.77 0/1 99 15 8 7 0.47 intronic rs62375235 HSPA4 AU NM_002154 exon6 c.21876+49T>G 0.16853 0.0913 0.213274 0.2176 0.1109 Uncertain 5_132412299_A->G 5 132412299 132412299 A G snp 416.77 0/1 99 33 18 15 0.45 intronic rs11747001 HSPA4 AU NM_002154 exon7 c.24403-46A>G 0.16853 0.0913 0.213506 0.2183 0.1127 Uncertain 5_132424743_C->T 5 132424743 132424743 C T snp 1026.77 0/1 99 104 60 44 0.42 splicing rs72667113 HSPA4 AU NM_002154 exon10 c.36804-3C>T 0.091254 0.2937 0.030077 0.0359 0.2928 ID=COSM149910;OCCURENCE=1(stomach) Pathogenic 5_132425049_A->G 5 132425049 132425049 A G snp 178.9 1/1 15 5 0 5 1.0 intronic rs10075878 HSPA4 AU NM_002154 exon10 c.36911+196A>G 0.512979 0.3899 Uncertain 5_132425169_G->A 5 132425169 132425169 G A snp 163.77 0/1 99 18 12 6 0.33 intronic rs6871331 HSPA4 AU NM_002154 exon11 c.37311-84G>A 0.19369 0.2937 Uncertain 5_132425465_A->G 5 132425465 132425465 A G snp 181.77 0/1 99 11 5 6 0.55 intronic rs10076134 HSPA4 AU NM_002154 exon11 c.37445+78A>G 0.19369 0.2937 Uncertain 5_132435488_C->T 5 132435488 132435488 C T snp 474.77 0/1 99 35 18 17 0.49 intronic rs4301229 HSPA4 AU NM_002154 exon16 c.47402+144C>T 0.184305 0.0913 Uncertain 5_132437531_C->T 5 132437531 132437531 C T snp 353.77 0/1 99 47 31 16 0.34 exonic rs1131809 HSPA4 AU synonymous SNV NM_002154 exon17 c.C2118T p.I706I 0.167133 0.0913 0.211825 0.2173 0.1123 Uncertain 5_132439820_C->G 5 132439820 132439820 C G snp 197.77 0/1 99 11 4 7 0.64 intronic rs68121884 HSPA4 AU NM_002154 exon18 c.51776+102C>G 0.114018 0.2946 ID=COSN167556;OCCURENCE=1(large_intestine) Uncertain 5_132440285_C->G 5 132440285 132440285 C G snp 40.77 0/1 69 5 3 2 0.4 UTR3 rs14355 HSPA4 AU 0.224641 0.0913 Uncertain 5_132561277_G->A 5 132561277 132561277 G A snp 2844.77 1/1 99 91 0 91 1.0 intronic rs2241583 FSTL4 AU NM_015082 exon8 c.26563-72G>A 0.620807 0.7083 Uncertain 5_132569261_CCT->- 5 132569261 132569263 CCT - indel 4912.73 1/1 99 86 0 86 1.0 intronic rs35758896 FSTL4 AU NM_015082 exon9 c.34443+32_34443+34delCCT 0.63758 0.8601 0.501677 0.5615 0.8603 Uncertain 5_132648331_T->C 5 132648331 132648331 T C snp 315.77 0/1 99 29 18 11 0.38 intronic rs2278232 FSTL4 AU NM_015082 exon11 c.113559-14T>C 0.129792 0.3373 0.042134 0.1142 0.3444 Uncertain 5_132918994_G->A 5 132918994 132918994 G A snp 514.77 0/1 99 65 38 27 0.42 intronic rs256266 FSTL4 AU NM_015082 exon14 c.368124+16084G>A 0.255591 0.3631 0.4195 0.5714 1 T 0.0 P -0.922 T Uncertain 5_133450497_A->G 5 133450497 133450497 A G snp 99.28 1/1 9 3 0 3 1.0 upstream rs173424 TCF7 AU 0.745407 0.8522 Uncertain 5_133537438_T->A 5 133537438 133537438 T A snp 1466.77 1/1 99 51 0 51 1.0 intronic rs2302598 PPP2CA AU NM_002715 exon5 c.4076-100T>A 0.700879 0.5387 Uncertain 5_133537479_T->G 5 133537479 133537479 T G snp 2153.77 1/1 99 78 0 78 1.0 intronic rs2302599 PPP2CA AU NM_002715 exon5 c.4076-59T>G Uncertain 5_133541548_A->G 5 133541548 133541548 A G snp 775.77 1/1 57 29 0 29 1.0 intronic rs2239543 PPP2CA AU NM_002715 exon6 c.8150-64A>G 0.700879 0.5377 0.7658 0.6027 Uncertain 5_133561589_G->C 5 133561589 133561589 G C snp 4558.77 1/1 99 164 0 164 1.0 UTR5 rs3863186 PPP2CA AU 0.764715 0.7296 0.5543 Uncertain 5_133657610_-->A 5 133657610 133657610 - A indel 1895.73 1/1 99 81 0 81 1.0 intronic rs139337657 CDKL3 AU NM_016508 exon5 c.13770+16insA 0.285343 0.2589 0.392211 0.4177 0.2671 Uncertain 5_133861426_G->T 5 133861426 133861426 G T snp 1371.77 0/1 99 153 81 72 0.47 exonic rs75304543 JADE2 AU nonsynonymous SNV NM_001289985 exon1 c.G42T p.L14F 0.140775 0.3472 0.1619 0.4176 0.52 T 1.000 P -0.939 T 0.0 T 0.0 T Pathogenic 5_133873572_A->C 5 133873572 133873572 A C snp 1589.77 1/1 99 49 0 49 1.0 intronic rs329126 JADE2 AU NM_015288 exon3 c.2131-106A>C 0.773762 0.9177 Uncertain 5_133873577_C->T 5 133873577 133873577 C T snp 910.77 0/1 99 51 19 32 0.63 intronic rs2304082 JADE2 AU NM_015288 exon3 c.2131-101C>T 0.183107 0.1657 Uncertain 5_133896744_A->G 5 133896744 133896744 A G snp 379.77 1/1 30 11 0 11 1.0 intronic rs2589404 JADE2 AU NM_015288 exon6 c.25100+97A>G 0.966454 0.9722 Uncertain 5_133898136_C->T 5 133898136 133898136 C T snp 107.77 0/1 99 11 7 4 0.36 intronic rs10056247 JADE2 AU NM_015288 exon7 c.26510+79C>T 0.259185 0.1042 Uncertain 5_133900111_A->C 5 133900111 133900111 A C snp 4541.77 1/1 99 163 0 163 1.0 intronic rs329311 JADE2 AU NM_015288 exon8 c.28636-72A>C 0.865815 0.7778 Uncertain 5_133902288_C->T 5 133902288 133902288 C T snp 47.77 0/1 76 20 17 3 0.15 intronic rs2044318 JADE2 AU NM_015288 exon9 c.30723+18C>T 0.261581 0.1151 0.280293 0.3339 0.1531 Uncertain 5_133909475_G->A 5 133909475 133909475 G A snp 2895.77 0/1 99 246 118 128 0.52 intronic rs329322 JADE2 AU NM_015288 exon10 c.37905+23G>A 0.783347 0.7073 0.839920 0.8037 0.6826 Uncertain 5_133942492_T->C 5 133942492 133942492 T C snp 507.77 0/1 99 35 17 18 0.51 UTR3 rs7728741 SAR1B AR 0.216653 0.3373 Uncertain 5_133943937_G->T 5 133943937 133943937 G T snp 46.77 0/1 31 3 1 2 0.67 intronic rs2305049 SAR1B AR NM_001033503 exon2 c.1422-124G>T 0.216254 0.3373 Uncertain 5_133944044_T->- 5 133944044 133944044 T - indel 488.73 0/1 99 65 24 41 0.63 intronic rs201249311 SAR1B AR NM_001033503 exon2 c.1422-17delT 0.481629 0.5298 0.4873 0.4942 Uncertain 5_133956668_G->A 5 133956668 133956668 G A snp 930.77 0/1 99 75 36 39 0.52 exonic rs11558540 SAR1B AR synonymous SNV NM_001033503 exon4 c.C133T p.L45L 0.167931 0.3135 0.093572 0.1458 0.3654 Uncertain 5_133984646_T->- 5 133984646 133984646 T - indel 1824.73 0/1 99 132 74 58 0.44 UTR5 rs61421945 SEC24A AU 0.180511 0.3234 Uncertain 5_134015523_C->G 5 134015523 134015523 C G snp 483.77 1/1 36 14 0 14 1.0 intronic rs10042142 SEC24A AU NM_001252231 exon8 c.30652+105C>G 0.975839 1 Uncertain 5_134033777_G->A 5 134033777 134033777 G A snp 1442.77 1/1 99 47 0 47 1.0 intronic rs246341 SEC24A AU NM_021982 exon15 c.48981+30G>A 0.989816 1 0.974958 0.9769 0.9999 Uncertain 5_134076812_G->A 5 134076812 134076812 G A snp 2009.77 0/1 99 159 76 83 0.52 exonic rs12657663 CAMLG AU nonsynonymous SNV NM_001745 exon2 c.G232A p.V78I 0.146565 0.2808 0.076657 0.1360 0.2549 0.96 T 0.000 P -1.066 T 0.0 T 0.001 T Pathogenic 5_134109602_A->G 5 134109602 134109602 A G snp 316.77 0/1 45 12 2 10 0.83 intronic rs2059803 DDX46 AU NM_014829 exon5 c.14923+51A>G 0.225839 0.3274 0.162950 0.1850 0.3898 Uncertain 5_134113558_G->A 5 134113558 134113558 G A snp 341.78 1/1 27 10 0 10 1.0 intronic rs254713 DDX46 AU NM_014829 exon6 c.18787+143G>A 0.989617 1 Uncertain 5_134164285_T->- 5 134164285 134164285 T - indel 154.77 1/1 21 7 0 7 1.0 intronic rs34675300 DDX46 AU NM_014829 exon23 c.69720-63delT 0.872204 0.9187 Uncertain 5_134223593_A->G 5 134223593 134223593 A G snp 1410.77 0/1 99 148 88 60 0.41 exonic rs3733897 TXNDC15 AU synonymous SNV NM_024715 exon2 c.A312G p.K104K 0.155551 0.2748 0.107104 0.1490 0.2494 0.52 T 0.0 P -0.984 T Likely benign 5_134331822_G->A 5 134331822 134331822 G A snp 238.77 0/1 99 16 7 9 0.56 intronic rs299363 CATSPER3 AU NM_178019 exon3 c.28281-140G>A 0.356629 0.5188 Uncertain 5_134331921_T->G 5 134331921 134331921 T G snp 1600.77 0/1 99 123 58 65 0.53 intronic rs299364 CATSPER3 AU NM_178019 exon3 c.28281-41T>G 0.401957 0.6429 0.253806 0.3664 0.6250 Uncertain 5_134343799_A->G 5 134343799 134343799 A G snp 1066.77 0/1 99 101 52 49 0.49 exonic rs177252 CATSPER3 AU synonymous SNV NM_178019 exon4 c.A645G p.A215A 0.508986 0.5615 0.393511 0.3879 0.5384 Uncertain 5_134344497_T->C 5 134344497 134344497 T C snp 2068.77 1/1 99 72 0 72 1.0 intronic rs299376 CATSPER3 AU NM_178019 exon5 c.40849-33T>C 0.94389 0.999 0.921267 0.9107 0.9977 Uncertain 5_134344902_T->C 5 134344902 134344902 T C snp 328.77 0/1 99 23 12 11 0.48 intronic rs299377 CATSPER3 AU NM_178019 exon6 c.41379-158T>C 0.507987 0.5575 Uncertain 5_134344929_C->G 5 134344929 134344929 C G snp 1729.77 1/1 99 49 0 49 1.0 intronic rs299378 CATSPER3 AU NM_178019 exon6 c.41379-131C>G 0.977037 1 Uncertain 5_134346304_G->A 5 134346304 134346304 G A snp 228.77 0/1 99 12 4 8 0.67 intronic rs877812 CATSPER3 AU NM_178019 exon7 c.42539+84G>A 0.61242 0.6419 Uncertain 5_134364407_CCGCGC->- 5 134364407 134364412 CCGCGC - indel 972.73 0/1 99 26 13 13 0.5 UTR3 rs71660434 PITX1 AD 0.64397 0.619 Uncertain 5_134364518_C->G 5 134364518 134364518 C G snp 1925.77 0/1 99 173 81 92 0.53 exonic rs479632 PITX1 AD nonsynonymous SNV NM_002653 exon3 c.G896C p.G299A 0.319888 0.4762 0.216592 0.3001 0.4793 0.69 T 1.000 P -1.046 T 0.147 T 0.06 T Pathogenic 5_134365091_T->C 5 134365091 134365091 T C snp 678.77 0/1 99 42 16 26 0.62 intronic rs474853 PITX1 AD NM_002653 exon1 c.543+80T>C 0.559305 0.4772 Uncertain 5_134368722_A->- 5 134368722 134368722 A - indel 696.73 0/1 99 42 13 29 0.69 intronic rs10716861 PITX1 AD NM_002653 exon3 c.4934-680delA 0.566294 0.4772 0.4084 0.4470 Uncertain 5_134573703_C->T 5 134573703 134573703 C T snp 668.77 0/1 99 36 11 25 0.69 ncRNA_intronic rs75406364 C5orf66-AS2 AU 0.0607029 0.0556 Uncertain 5_134782414_G->T 5 134782414 134782414 G T snp 2566.77 0/1 99 233 126 107 0.46 exonic rs12518053 DCANP1 AU synonymous SNV NM_130848 exon1 c.C385A p.R129R 0.651757 0.5635 0.604567 0.5193 0.5686 Uncertain 5_134782450_T->A 5 134782450 134782450 T A snp 2486.77 0/1 99 214 114 100 0.47 exonic rs12520799 DCANP1 AU stopgain NM_130848 exon1 c.A349T p.R117X 0.645168 0.5635 0.598493 0.5177 0.5687 0 D 0.0 P Pathogenic 5_134782510_T->C 5 134782510 134782510 T C snp 2156.77 0/1 99 197 102 95 0.48 exonic rs12520809 DCANP1 AU nonsynonymous SNV NM_130848 exon1 c.A289G p.N97D 0.645168 0.5645 0.598724 0.5180 0.5707 0 D 0.0 P -1.037 T 0.0 T 0.0 T Pathogenic 5_134782576_T->G 5 134782576 134782576 T G snp 1990.77 0/1 99 165 80 85 0.52 exonic rs1031844 DCANP1 AU nonsynonymous SNV NM_130848 exon1 c.A223C p.T75P 0.645367 0.5635 0.595956 0.5178 0.5678 0 D 0.0 P -1.054 T 0.0 T 0.0 T Pathogenic 5_134907552_G->A 5 134907552 134907552 G A snp 1582.77 0/1 99 144 75 69 0.48 exonic rs2547 CXCL14 AU synonymous SNV NM_004887 exon4 c.C327T p.Y109Y 0.091254 0.1141 0.086422 0.0912 0.1101 Uncertain 5_134914350_G->A 5 134914350 134914350 G A snp 1764.77 0/1 99 186 102 84 0.45 intronic rs2072347 CXCL14 AU NM_004887 exon4 c.6862-54G>A 0.199081 0.3343 Uncertain 5_134986006_G->A 5 134986006 134986006 G A snp 794.77 1/1 57 30 0 30 1.0 ncRNA_exonic rs801560 LOC340074 AU 0.86881 0.998 0.8558 1 Uncertain 5_134986256_-->AAC 5 134986256 134986256 - AAC indel 932.73 1/1 57 19 0 19 1.0 ncRNA_intronic rs149152270 LOC340074 AU 0.940096 0.998 0.8592 0.9808 Uncertain 5_135170671_G->C 5 135170671 135170671 G C snp 575.77 0/1 99 48 24 24 0.5 intronic rs2288833 SLC25A48 AU NM_145282 exon1 c.46+89G>C 0.194888 0.4345 Uncertain 5_135178124_T->C 5 135178124 135178124 T C snp 1142.77 0/1 99 100 48 52 0.52 exonic rs2304075 SLC25A48 AU synonymous SNV NM_145282 exon2 c.T66C p.V22V 0.743011 0.7123 0.807458 0.7707 0.7069 Uncertain 5_135186075_A->G 5 135186075 135186075 A G snp 2563.77 0/1 99 218 102 116 0.53 intronic rs2304077 SLC25A48 AU NM_145282 exon3 c.15577-38A>G 0.665136 0.7113 0.646971 0.6249 0.7064 Uncertain 5_135188214_G->C 5 135188214 135188214 G C snp 2687.77 0/1 99 247 138 109 0.44 intronic rs2304078 SLC25A48 AU NM_145282 exon4 c.17715-37G>C 0.742812 0.7123 0.787741 0.7646 0.7068 Uncertain 5_135215554_C->T 5 135215554 135215554 C T snp 212.77 0/1 99 13 6 7 0.54 intronic rs2269927 SLC25A48 AU NM_145282 exon5 c.53184-8166C>T 0.0215655 0.0853 Uncertain 5_135215923_G->T 5 135215923 135215923 G T snp 257.77 0/1 99 17 8 9 0.53 intronic rs17169294 SLC25A48 AU NM_145282 exon5 c.53184-7797G>T 0.0439297 0.005 Uncertain 5_135223713_G->T 5 135223713 135223713 G T snp 1565.77 0/1 99 174 101 73 0.42 intronic rs9327734 SLC25A48 AU NM_145282 exon5 c.53184-7G>T 0.21226 0.0377 0.252738 0.2087 0.0353 Uncertain 5_135228268_T->A 5 135228268 135228268 T A snp 1099.77 0/1 99 92 43 49 0.53 intronic rs116896049 IL9 AU NM_000590 exon1 c.120+69T>A 0.00738818 0.0357 Uncertain 5_135228276_A->G 5 135228276 135228276 A G snp 1021.77 0/1 99 82 36 46 0.56 intronic rs150714108 IL9 AU NM_000590 exon1 c.120+77A>G 0.00738818 0.0357 Uncertain 5_135229633_T->C 5 135229633 135229633 T C snp 206.77 0/1 99 14 7 7 0.5 intronic rs2069882 IL9 AU NM_000590 exon2 c.1629-75T>C 0.198482 0.0367 Uncertain 5_135273370_G->T 5 135273370 135273370 G T snp 260.77 0/1 99 14 6 8 0.57 intronic rs10052673 FBXL21 AU NM_012159 exon6 c.953+134G>T 0.0666933 0.0377 Uncertain 5_135276049_G->A 5 135276049 135276049 G A snp 46.77 0/1 33 3 1 2 0.67 intronic rs31549 FBXL21 AU NM_012159 exon7 c.3894-128G>A 0.484625 0.5228 Uncertain 5_135276202_GTT->- 5 135276202 135276204 GTT - indel 1901.73 0/1 99 80 42 38 0.47 exonic rs1160982 FBXL21 AU unknown 0.734225 0.7817 0.694875 0.7381 0.7942 Uncertain 5_135276314_C->T 5 135276314 135276314 C T snp 1156.77 0/1 99 126 70 56 0.44 exonic rs40986 FBXL21 AU unknown 0.813698 0.7808 0.781150 0.7658 0.7937 Uncertain 5_135276701_T->C 5 135276701 135276701 T C snp 825.77 0/1 99 105 69 36 0.34 intronic rs31548 FBXL21 AU NM_012159 exon8 c.4433-15T>C 0.681261 0.7327 0.7950 Uncertain 5_135276847_T->C 5 135276847 135276847 T C snp 1821.77 0/1 99 171 90 81 0.47 exonic rs31547 FBXL21 AU unknown 0.734425 0.7827 0.699330 0.7350 0.7954 Uncertain 5_135277394_-->T 5 135277394 135277394 - T indel 340.73 0/1 99 47 21 26 0.55 downstream rs11376205 FBXL21 AU 0.832268 0.7827 0.7694 0.7936 Uncertain 5_135286751_A->T 5 135286751 135286751 A T snp 61.77 0/1 90 10 7 3 0.3 intronic LECT2 AU NM_002302 exon2 c.3892-160A>T Uncertain 5_135287029_T->C 5 135287029 135287029 T C snp 2247.77 0/1 99 161 65 96 0.6 exonic rs31517 LECT2 AU nonsynonymous SNV NM_002302 exon3 c.A172G p.I58V 0.636382 0.6478 0.616792 0.6445 0.6450 1 T 0.000 P -0.904 T 0.0 T 0.001 T Pathogenic 5_135287124_T->A 5 135287124 135287124 T A snp 598.77 0/1 99 34 14 20 0.59 intronic rs2073616 LECT2 AU NM_002302 exon2 c.4038+67T>A 0.00838658 0.0377 Uncertain 5_135365006_A->G 5 135365006 135365006 A G snp 350.78 1/1 27 11 0 11 1.0 intronic rs4976361 TGFBI AU,AD NM_000358 exon1 c.134+128A>G 0.989816 1 Uncertain 5_135379612_A->G 5 135379612 135379612 A G snp 1650.77 1/1 99 58 0 58 1.0 intronic rs4976464 TGFBI AU,AD NM_000358 exon3 c.15002-134A>G 0.979233 1 Uncertain 5_135382989_G->C 5 135382989 135382989 G C snp 1440.77 0/1 99 139 75 64 0.46 exonic rs1442 TGFBI AU,AD synonymous SNV NM_000358 exon6 c.G651C p.L217L 0.317692 0.369 0.343482 0.4270 0.3710 Uncertain 5_135388604_A->G 5 135388604 135388604 A G snp 2518.77 0/1 99 250 151 99 0.4 exonic TGFBI AU,AD nonsynonymous SNV NM_000358 exon8 c.A922G p.N308D 0.03 T 1.000 D 0.493 D 0.62 T 0.472 P Pathogenic 5_135396452_A->G 5 135396452 135396452 A G snp 52.74 1/1 6 2 0 2 1.0 intronic rs13168506 TGFBI AU,AD NM_000358 exon14 c.31778-70A>G 0.595647 0.5933 Uncertain 5_135396468_T->A 5 135396468 135396468 T A snp 96.28 1/1 9 3 0 3 1.0 intronic rs13188659 TGFBI AU,AD NM_000358 exon14 c.31778-54T>A 0.59365 0.5933 Uncertain 5_135396669_T->C 5 135396669 135396669 T C snp 1234.77 1/1 87 45 0 45 1.0 intronic rs6880837 TGFBI AU,AD NM_000358 exon14 c.31881+44T>C 0.591054 0.5933 0.575869 0.5383 0.6118 Uncertain 5_135397018_T->C 5 135397018 135397018 T C snp 101.28 1/1 9 4 0 4 1.0 intronic rs2302038 TGFBI AU,AD NM_000358 exon15 c.32444-170T>C 0.627196 0.5913 Uncertain 5_135398279_G->A 5 135398279 135398279 G A snp 578.77 0/1 99 87 60 27 0.31 intronic rs3749782 TGFBI AU,AD NM_000358 exon16 c.33607-72G>A 0.153954 0.1151 0.203898 Uncertain 5_135469527_T->G 5 135469527 135469527 T G snp 413.77 0/1 99 70 47 23 0.33 ncRNA_exonic rs3764941 SMAD5-AS1 AU 0.368011 0.3819 Uncertain 5_135469770_T->C 5 135469770 135469770 T C snp 141.03 1/1 12 5 0 5 1.0 ncRNA_exonic rs3764939 SMAD5-AS1 AU 0.370607 0.3829 Uncertain 5_135489891_A->G 5 135489891 135489891 A G snp 431.77 0/1 99 36 16 20 0.56 intronic rs10479111 SMAD5 AU NM_005903 exon3 c.403+39A>G 0.367412 0.3829 0.361211 0.3720 0.4420 Uncertain 5_135496820_-->A 5 135496820 135496820 - A indel 200.73 0/1 99 56 18 38 0.68 intronic rs11437885 SMAD5 AU NM_005903 exon4 c.7347+24insA 0.322085 0.3522 0.2881 0.3424 Uncertain 5_135498945_T->- 5 135498945 135498945 T - indel 1548.73 0/1 99 106 47 59 0.56 intronic rs11318760 SMAD5 AU NM_005903 exon5 c.9511-15delT 0.367212 0.3829 0.3182 0.4020 Uncertain 5_135508381_A->G 5 135508381 135508381 A G snp 1082.77 0/1 99 84 41 43 0.51 intronic rs4585442 SMAD5 AU NM_005903 exon6 c.18895+37A>G 0.374201 0.3829 0.370143 0.3193 0.3935 Uncertain 5_135510033_T->A 5 135510033 135510033 T A snp 1929.77 0/1 99 146 78 68 0.47 intronic rs4146185 SMAD5 AU NM_005903 exon7 c.20615-31T>A 0.366813 0.3829 0.364777 0.3063 0.3893 Uncertain 5_135512916_C->A 5 135512916 135512916 C A snp 288.77 0/1 99 20 10 10 0.5 intronic rs10078857 SMAD5 AU NM_005903 exon8 c.23576-109C>A 0.367013 0.3829 Uncertain 5_135513085_-->C 5 135513085 135513085 - C indel 3792.73 1/1 99 85 0 85 1.0 exonic rs55765823 SMAD5 AU unknown 1 1 1 1 Uncertain 5_135522878_G->- 5 135522878 135522878 G - indel 2295.73 0/1 99 134 71 63 0.47 intergenic rs66932414 SMAD5 AU 0.0500 0.2115 Uncertain 5_135522879_-->AATATA 5 135522879 135522879 - AATATA indel 5318.73 0/1 99 135 74 61 0.45 intergenic rs58669675 SMAD5 AU 0.0561 0.2558 Uncertain 5_135527905_A->G 5 135527905 135527905 A G snp 346.77 0/1 99 31 18 13 0.42 ncRNA_exonic rs2287963 LOC389332 AU 0.367412 0.3829 0.2718 0.4615 Uncertain 5_135528316_C->G 5 135528316 135528316 C G snp 117.78 0/1 27 6 1 5 0.83 ncRNA_exonic rs6868337 LOC389332 AU 0.367412 0.3829 Uncertain 5_135561058_A->G 5 135561058 135561058 A G snp 1575.77 0/1 99 134 61 73 0.54 intronic rs3734124 TRPC7 AU NM_001167576 exon3 c.11920+16A>G 0.0561102 0.0665 0.061896 0.0677 0.0742 Uncertain 5_135587747_C->T 5 135587747 135587747 C T snp 68.77 0/1 97 9 6 3 0.33 intronic rs59268520 TRPC7 AU NM_001167576 exon7 c.38448+177C>T 0.113019 0.0804 Uncertain 5_136315201_T->- 5 136315201 136315201 T - indel 2511.73 0/1 99 130 65 65 0.5 intronic rs3217011 SPOCK1 AU NM_004598 exon2 c.816+43delT 0.644968 0.3214 0.801278 0.7896 0.3319 Uncertain 5_136315221_C->T 5 136315221 136315221 C T snp 1073.77 0/1 99 97 48 49 0.51 intronic rs13158661 SPOCK1 AU NM_004598 exon2 c.816+63C>T 0.0964457 0.0863 Uncertain 5_136328367_C->T 5 136328367 136328367 C T snp 1084.77 1/1 81 35 0 35 1.0 intronic rs3777224 SPOCK1 AU NM_004598 exon5 c.13947+78C>T 0.674321 0.8165 Uncertain 5_136403322_C->T 5 136403322 136403322 C T snp 138.77 0/1 99 10 5 5 0.5 intronic rs756522 SPOCK1 AU NM_004598 exon6 c.89061-81C>T 0.058107 0.123 Uncertain 5_136961400_T->C 5 136961400 136961400 T C snp 463.77 0/1 99 42 22 20 0.48 intronic rs2074344 KLHL3 AR,AD NM_017415 exon2 c.3655-41T>C 0.201478 0.4643 0.071659 0.1331 0.4282 Uncertain 5_136961413_G->A 5 136961413 136961413 G A snp 632.77 0/1 99 55 29 26 0.47 intronic rs2074345 KLHL3 AR,AD NM_017415 exon2 c.3655-28G>A 0.202077 0.4643 0.071736 0.1332 0.4277 Uncertain 5_136969637_A->G 5 136969637 136969637 A G snp 548.77 0/1 99 35 12 23 0.66 intronic rs7713180 KLHL3 AR,AD NM_017415 exon4 c.11939-88A>G 0.395168 0.4891 Uncertain 5_136969793_C->T 5 136969793 136969793 C T snp 753.77 0/1 99 70 34 36 0.51 exonic rs2301708 KLHL3 AR,AD synonymous SNV NM_017415 exon12 c.G1383A p.E461E 0.226438 0.4583 0.155390 0.2131 0.4193 Uncertain 5_136969953_C->T 5 136969953 136969953 C T snp 88.77 0/1 30 5 1 4 0.8 intronic rs2301709 KLHL3 AR,AD NM_017415 exon4 c.12068+99C>T 0.395367 0.4891 Uncertain 5_136975687_G->A 5 136975687 136975687 G A snp 1974.77 0/1 99 173 90 83 0.48 intronic rs2074348 KLHL3 AR,AD NM_017415 exon7 c.17880+21G>A 0.396166 0.4891 0.362064 0.3341 0.5369 Uncertain 5_136975819_A->G 5 136975819 136975819 A G snp 167.77 0/1 99 22 14 8 0.36 intronic rs4370266 KLHL3 AR,AD NM_017415 exon7 c.17880+153A>G 0.396166 0.4891 Uncertain 5_136993885_G->A 5 136993885 136993885 G A snp 1036.77 0/1 99 77 34 43 0.56 exonic rs138650966 KLHL3 AR,AD synonymous SNV NM_017415 exon8 c.C838T p.L280L 0.00658946 0.0327 0.0024 0.0339 Uncertain 5_136997777_C->- 5 136997777 136997777 C - indel 833.73 0/1 99 40 11 29 0.72 intronic rs70979550 KLHL3 AR,AD NM_017415 exon9 c.39934+57delC 0.314297 0.5565 Uncertain 5_137013106_C->T 5 137013106 137013106 C T snp 1339.77 1/1 99 43 0 43 1.0 intronic rs2967791 KLHL3 AR,AD NM_017415 exon10 c.55447-127C>T 0.694089 0.9335 Uncertain 5_137027953_A->T 5 137027953 137027953 A T snp 596.77 1/1 45 21 0 21 1.0 intronic rs2301710 KLHL3 AR,AD NM_017415 exon11 c.70187-20A>T 0.828075 0.9821 0.778794 0.7960 0.9916 Uncertain 5_137028029_T->C 5 137028029 137028029 T C snp 1240.77 1/1 90 39 0 39 1.0 exonic rs2905608 KLHL3 AR,AD synonymous SNV NM_017415 exon5 c.A471G p.A157A 0.828075 0.9821 0.779025 0.7926 0.9906 0 D 1.000 P -0.944 T Likely benign 5_137056027_T->C 5 137056027 137056027 T C snp 852.77 1/1 63 31 0 31 1.0 intronic rs6887727 KLHL3 AR,AD NM_017415 exon14 c.98367-126T>C 0.85004 0.9812 Uncertain 5_137206560_A->C 5 137206560 137206560 A C snp 5559.77 1/1 99 198 1 197 0.99 exonic rs6890689 MYOT AD nonsynonymous SNV NM_006790 exon2 c.A220C p.K74Q 0.985161 0.9959 1 0.38 T 1.0 P -0.965 T 0.0 T 0.0 T CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000153527.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 ID=CM056011;DIS=Myotilinopathy;TAG=DM;PUB=15947064 DM Pathogenic 5_137241856_T->C 5 137241856 137241856 T C snp 2609.77 1/1 99 85 0 85 1.0 intronic rs700605 PKD2L2 AU NM_014386 exon6 c.16714-38T>C 0.802716 0.9534 0.768060 0.8343 0.9477 Uncertain 5_137244517_G->A 5 137244517 137244517 G A snp 1787.77 1/1 99 73 0 73 1.0 exonic rs1880458 PKD2L2 AU nonsynonymous SNV NM_001258448 exon8 c.G1144A p.V382I 0.787939 0.9702 0.730932 0.7942 0.9671 0.39 T 0.000 P -1.003 T 0.0 T 0.001 T Pathogenic 5_137257288_A->G 5 137257288 137257288 A G snp 1055.77 1/1 75 39 0 39 1.0 intronic rs4304074 PKD2L2 AU NM_014386 exon9 c.32144-36A>G 0.977037 1 0.979503 0.9942 1 Uncertain 5_137259179_T->C 5 137259179 137259179 T C snp 802.77 1/1 57 32 0 32 1.0 exonic rs12187140 PKD2L2 AU nonsynonymous SNV NM_001258449 exon8 c.T1217C p.L406P 0.977037 1 0.979291 0.9943 1 0.61 T 0.068 P -0.949 T 0.0 T 0.0 T Pathogenic 5_137259251_C->T 5 137259251 137259251 C T snp 705.77 1/1 51 26 0 26 1.0 intronic rs13188503 PKD2L2 AU NM_014386 exon10 c.34030+41C>T 0.977037 1 0.979113 0.9942 1 Uncertain 5_137259335_C->G 5 137259335 137259335 C G snp 149.77 0/1 63 9 2 7 0.78 intronic rs34615501 PKD2L2 AU NM_014386 exon10 c.34030+125C>G 0.189696 0.3859 Uncertain 5_137271968_T->G 5 137271968 137271968 T G snp 541.77 1/1 42 14 0 14 1.0 intronic rs7701617 PKD2L2 AU NM_001258448 exon14 c.46828-40T>G 0.9977 1 Uncertain 5_137277764_G->A 5 137277764 137277764 G A snp 419.77 0/1 99 44 25 19 0.43 intronic rs769251646 FAM13B AU NM_016603 exon2 c.1821+30G>A 3.562e-05 0.0004 Uncertain 5_137281708_A->C 5 137281708 137281708 A C snp 2691.77 1/1 99 93 0 93 1.0 intronic rs1125979 FAM13B AU NM_016603 exon5 c.5773+22A>C 0.789736 0.9712 0.729202 0.7964 0.9673 Uncertain 5_137292095_G->A 5 137292095 137292095 G A snp 1257.77 0/1 99 92 43 49 0.53 intronic rs3777115 FAM13B AU NM_001101801 exon10 c.16252-70G>A 0.189696 0.3859 Uncertain 5_137292133_-->A 5 137292133 137292133 - A indel 4252.73 1/1 99 136 0 136 1.0 intronic rs3836896 FAM13B AU NM_001101801 exon10 c.16252-32insA 0.789537 0.9712 0.729306 0.8037 0.9672 Uncertain 5_137292395_-->T 5 137292395 137292395 - T indel 163.73 0/1 53 9 2 7 0.78 intronic rs3836895 FAM13B AU NM_001101801 exon10 c.16318+164insT 0.189696 0.3859 Uncertain 5_137295823_T->C 5 137295823 137295823 T C snp 718.77 1/1 54 28 0 28 1.0 intronic rs9327802 FAM13B AU NM_016603 exon12 c.19941-31T>C 0.789736 0.9712 0.730097 0.7988 0.9674 Uncertain 5_137297923_C->T 5 137297923 137297923 C T snp 101.28 1/1 9 4 0 4 1.0 intronic rs4835738 FAM13B AU NM_016603 exon13 c.22180-170C>T 0.790335 0.9712 Uncertain 5_137323117_A->G 5 137323117 137323117 A G snp 435.77 1/1 33 13 0 13 1.0 intronic rs7714536 FAM13B AU NM_016603 exon15 c.47236-32A>G 0.789736 0.9712 0.730520 0.8148 0.9695 Uncertain 5_137342589_T->C 5 137342589 137342589 T C snp 424.77 0/1 99 35 21 14 0.4 intronic rs3756686 FAM13B AU NM_016603 exon17 c.66765-89T>C 0.449681 0.5873 Uncertain 5_137347403_G->A 5 137347403 137347403 G A snp 695.77 1/1 51 23 0 23 1.0 intronic rs12187885 FAM13B AU NM_016603 exon19 c.71543-53G>A 0.789736 0.9712 Uncertain 5_137347498_G->A 5 137347498 137347498 G A snp 1726.77 1/1 99 71 0 71 1.0 exonic rs10064910 FAM13B AU synonymous SNV NM_001101801 exon4 c.C153T p.S51S 0.98722 1 0.989390 0.9968 1 Uncertain 5_137354852_A->- 5 137354852 137354852 A - indel 196.14 0/1 10 14 2 12 0.86 intronic rs397999362 FAM13B AU NM_016603 exon21 c.78922+17delA 0.789337 0.9702 0.8027 0.9616 Uncertain 5_137372207_A->T 5 137372207 137372207 A T snp 4735.77 1/1 99 184 1 183 0.99 intergenic rs6596419 FAM13B AU 0.976438 1 0.9964 1 Uncertain 5_137419728_T->C 5 137419728 137419728 T C snp 185.77 0/1 99 14 7 7 0.5 UTR5 rs4574537 WNT8A AU 0.324081 0.3988 0.290463 0.3173 0.3839 Uncertain 5_137420376_T->C 5 137420376 137420376 T C snp 2355.77 1/1 99 79 0 79 1.0 intronic rs4835762 WNT8A AU NM_001300938 exon2 c.509+51T>C 0.976438 1 0.978334 0.9931 1 Uncertain 5_137426447_G->A 5 137426447 137426447 G A snp 1781.77 0/1 99 178 100 78 0.44 exonic rs6596422 WNT8A AU synonymous SNV NM_058244 exon6 c.G741A p.A247A 0.469649 0.5843 0.428386 0.4815 0.5947 Uncertain 5_137426768_C->T 5 137426768 137426768 C T snp 556.77 0/1 99 28 11 17 0.61 UTR3 rs12520886 WNT8A AU 0.190296 0.3839 0.095446 0.1722 0.3675 Uncertain 5_137427166_C->T 5 137427166 137427166 C T snp 1495.77 0/1 99 151 85 66 0.44 UTR3 rs117590397 WNT8A AU 0.00479233 0.0218 0.0029 0.0335 Uncertain 5_137427274_G->C 5 137427274 137427274 G C snp 368.77 0/1 99 34 20 14 0.41 downstream rs3860103 WNT8A AU 0.469449 0.5843 Uncertain 5_137454358_C->G 5 137454358 137454358 C G snp 220.84 1/1 18 6 0 6 1.0 intronic rs6878575 NME5 AU NM_003551 exon2 c.3137-148C>G 0.977037 1 Uncertain 5_137464887_-->T 5 137464887 137464887 - T indel 915.73 1/1 48 45 3 42 0.93 intronic rs11428296 NME5 AU NM_003551 exon4 c.13582-64insT 0.221446 0.5208 Uncertain 5_137476416_T->C 5 137476416 137476416 T C snp 4560.77 1/1 99 162 0 162 1.0 exonic rs412051 BRD8 AU nonsynonymous SNV NM_139199 exon26 c.A3593G p.Q1198R 0.977236 1 0.980086 0.9944 1 1 T 1.000 P -0.965 T 0.0 T 0.0 T Pathogenic 5_137485292_C->T 5 137485292 137485292 C T snp 521.77 1/1 39 16 0 16 1.0 intronic rs217270 BRD8 AU NM_139199 exon5 c.9566-36C>T 0.986821 1 0.990466 0.9970 1 Uncertain 5_137499077_T->C 5 137499077 137499077 T C snp 167.77 0/1 99 27 19 8 0.3 intronic rs76045474 BRD8 AU NM_001164326 exon6 c.6137+44T>C 0.00419329 0.0208 0.0016 0.0224 Uncertain 5_137506434_G->A 5 137506434 137506434 G A snp 1925.77 1/1 99 68 0 68 1.0 intronic rs13155519 BRD8 AU NM_001164326 exon15 c.13624-86G>A 0.445288 0.5923 Uncertain 5_137507105_A->- 5 137507105 137507105 A - indel 449.73 0/1 52 57 8 49 0.86 splicing rs34106093 BRD8 AU NM_001164326 exon17 c.14203+6delA 0.496805 0.5387 0.4650 0.5008 Pathogenic 5_137513369_-->AA 5 137513369 137513369 - AA indel 905.73 1/1 50 61 1 60 0.98 intronic rs10671440 BRD8 AU NM_001164326 exon19 c.20460+13insAA 0.4320 0.4176 Uncertain 5_137665323_G->A 5 137665323 137665323 G A snp 3787.77 1/1 99 138 0 138 1.0 exonic rs3734166 CDC25C AU nonsynonymous SNV NM_001790 exon3 c.C208T p.R70C 0.390176 0.6101 0.334615 0.3176 0.6048 0.19 T 1.000 P -0.944 T 0.009 T 0.002 T ID=CM138500;DIS=Colorectal cancer, age of onset, association with;TAG=DP;PUB=23125224 DP Pathogenic 5_137665462_C->G 5 137665462 137665462 C G snp 56.74 1/1 6 2 0 2 1.0 intronic rs3734167 CDC25C AU NM_001790 exon12 c.43956+126C>G 0.385783 0.6101 Uncertain 5_137682714_T->G 5 137682714 137682714 T G snp 73.77 0/1 99 9 5 4 0.44 UTR3 rs2269953 FAM53C AU 0.446086 0.5843 Uncertain 5_137708434_C->T 5 137708434 137708434 C T snp 1777.77 0/1 99 167 84 83 0.5 exonic rs4835678 KDM3B AU synonymous SNV NM_016604 exon2 c.C264T p.I88I 0.67492 0.8482 0.580424 0.6376 0.8529 Uncertain 5_137710013_T->G 5 137710013 137710013 T G snp 284.77 0/1 99 29 17 12 0.41 intronic rs12522867 KDM3B AU NM_016604 exon3 c.22297-768T>G 0.448283 0.5843 0.4025 0.5985 Uncertain 5_137717265_G->A 5 137717265 137717265 G A snp 1508.77 1/1 99 62 0 62 1.0 exonic rs6865472 KDM3B AU nonsynonymous SNV NM_016604 exon6 c.G766A p.A256T 0.978435 1 0.982316 0.9951 1 0.58 T 0.000 P -1.016 T 0.0 T 0.0 T Pathogenic 5_137728774_A->G 5 137728774 137728774 A G snp 44.77 0/1 31 3 1 2 0.67 intronic rs2269951 KDM3B AU NM_016604 exon9 c.40375-85A>G 0.457268 0.5833 Uncertain 5_137729134_-->T 5 137729134 137729134 - T indel 987.73 0/1 99 67 37 30 0.45 intronic rs398109450 KDM3B AU NM_016604 exon9 c.40577+73insT 0.325679 0.5605 Uncertain 5_137735754_A->T 5 137735754 137735754 A T snp 419.77 0/1 99 36 21 15 0.42 intronic rs4835680 KDM3B AU NM_016604 exon11 c.47217+53A>T 0.749201 0.8502 Uncertain 5_137754695_T->C 5 137754695 137754695 T C snp 1121.77 0/1 99 73 28 45 0.62 exonic rs7726234 KDM3B AU synonymous SNV NM_016604 exon14 c.T3489C p.G1163G 0.678115 0.8532 0.583961 0.6389 0.8566 Uncertain 5_137760083_A->C 5 137760083 137760083 A C snp 65.77 0/1 94 12 9 3 0.25 intronic rs740077 KDM3B AU NM_016604 exon16 c.71546+53A>C 0.385383 0.5813 Uncertain 5_137762576_A->G 5 137762576 137762576 A G snp 71.77 0/1 99 9 6 3 0.33 intronic rs76513630 KDM3B AU NM_016604 exon18 c.74179-87A>G 0.184704 0.3145 Uncertain 5_137775081_C->T 5 137775081 137775081 C T snp 103.77 0/1 99 14 9 5 0.36 intronic rs1859466 REEP2 AR,AD NM_016606 exon1 c.32+152C>T 0.305711 0.5506 Uncertain 5_137775581_C->G 5 137775581 137775581 C G snp 696.77 0/1 99 68 37 31 0.46 intronic rs982085 REEP2 AR,AD NM_016606 exon1 c.32+652C>G 0.65595 0.8532 Uncertain 5_137780336_T->C 5 137780336 137780336 T C snp 2854.77 1/1 99 84 0 84 1.0 intronic rs4835794 REEP2 AR,AD NM_016606 exon5 c.5545-106T>C 0.952476 1 Uncertain 5_137780368_C->A 5 137780368 137780368 C A snp 1785.77 0/1 99 151 81 70 0.46 intronic rs2240331 REEP2 AR,AD NM_016606 exon5 c.5545-74C>A 0.57528 0.7817 Uncertain 5_137780631_C->T 5 137780631 137780631 C T snp 358.77 0/1 99 21 10 11 0.52 intronic rs2240330 REEP2 AR,AD NM_016606 exon5 c.5659+75C>T 0.322284 0.5556 Uncertain 5_137802404_C->T 5 137802404 137802404 C T snp 293.77 0/1 99 24 14 10 0.42 intronic rs11743810 EGR1 AU NM_001964 exon2 c.995-41C>T 0.360423 0.1786 0.487621 0.4970 0.1747 Uncertain 5_137844274_A->G 5 137844274 137844274 A G snp 280.77 0/1 99 16 7 9 0.56 intronic rs2242599 ETF1 AU NM_001282185 exon2 c.364-83A>G 0.526957 0.7788 Uncertain 5_137846155_A->G 5 137846155 137846155 A G snp 3449.77 1/1 99 139 0 139 1.0 intronic rs4835685 ETF1 AU NM_001282185 exon3 c.2260-98A>G 0.95008 0.994 Uncertain 5_137847082_C->T 5 137847082 137847082 C T snp 314.77 0/1 87 17 4 13 0.76 intronic rs35404194 ETF1 AU NM_001282185 exon5 c.3170-81C>T 0.90595 0.9911 Uncertain 5_137847087_ACACAT->- 5 137847087 137847092 ACACAT - indel 916.9 1/1 14 18 3 15 0.83 intronic rs137924468 ETF1 AU NM_001282185 exon5 c.3170-76_3170-71delACACAT 0.00439297 0.2809 0.5349 Uncertain 5_137849526_C->T 5 137849526 137849526 C T snp 649.77 0/1 99 43 17 26 0.6 intronic rs10077407 ETF1 AU NM_001282185 exon7 c.5402+131C>T 0.526957 0.7788 Uncertain 5_137892170_G->A 5 137892170 137892170 G A snp 851.77 0/1 99 79 43 36 0.46 exonic rs10117 HSPA9 AR,AD synonymous SNV NM_004134 exon16 c.C1933T p.L645L 0.645767 0.7907 0.513994 0.4886 0.7866 Uncertain 5_137897589_A->C 5 137897589 137897589 A C snp 275.77 0/1 99 19 10 9 0.47 intronic rs256007 HSPA9 AR,AD NM_004134 exon8 c.5753+111A>C 0.635583 0.7917 Uncertain 5_137902339_T->C 5 137902339 137902339 T C snp 2109.77 0/1 99 187 98 89 0.48 exonic rs1042665 HSPA9 AR,AD synonymous SNV NM_004134 exon9 c.A948G p.K316K 0.419928 0.7629 0.253498 0.3072 0.7588 Uncertain 5_137902869_A->- 5 137902869 137902869 A - indel 112.73 0/1 88 11 4 7 0.64 intronic rs398050782 HSPA9 AR,AD NM_004134 exon10 c.11127+17delA 0.649561 0.7946 0.5528 0.7929 Uncertain 5_137909675_AGA->- 5 137909675 137909677 AGA - indel 812.73 0/1 99 23 5 18 0.78 intronic rs34472800 HSPA9 AR,AD NM_004134 exon16 c.18031-81_18031-79delAGA 0.505391 0.7837 Uncertain 5_138117938_A->G 5 138117938 138117938 A G snp 4997.77 1/1 99 178 0 178 1.0 intronic rs700626 CTNNA1 AD NM_001903 exon2 c.105+220A>G 0.773962 0.9236 0.6952 0.9409 Uncertain 5_138160056_A->G 5 138160056 138160056 A G snp 56.74 1/1 6 2 0 2 1.0 intronic rs6860780 CTNNA1 AD NM_001903 exon6 c.42605-162A>G 0.740415 0.9246 Uncertain 5_138356756_G->A 5 138356756 138356756 G A snp 35.77 0/1 64 8 6 2 0.25 intronic rs10077896 SIL1 AR NM_001037633 exon4 c.74054-103G>A 0.372404 0.1558 Uncertain 5_138356775_C->A 5 138356775 138356775 C A snp 177.77 0/1 99 17 11 6 0.35 intronic rs10077796 SIL1 AR NM_001037633 exon4 c.74054-84C>A 0.437899 0.1845 Uncertain 5_138386859_C->A 5 138386859 138386859 C A snp 83.77 0/1 67 5 2 3 0.6 intronic rs3828600 SIL1 AR NM_001037633 exon7 c.103930+124C>A Uncertain 5_138456815_T->C 5 138456815 138456815 T C snp 1123.77 0/1 99 95 43 52 0.55 exonic rs3088052 SIL1 AR synonymous SNV NM_022464 exon3 c.A153G p.T51T 0.426917 0.1815 0.514224 0.4354 0.1686 Uncertain 5_138456994_G->A 5 138456994 138456994 G A snp 132.77 0/1 99 17 10 7 0.41 intronic rs11750382 SIL1 AR NM_001037633 exon8 c.174057+132G>A 0.207268 0.1478 Uncertain 5_138473077_-->A 5 138473077 138473077 - A indel 3572.73 1/1 99 95 0 95 1.0 intronic rs11431215 SIL1 AR NM_001037633 exon9 c.180737+9535insA 1 1 0.9999 1 Uncertain 5_138643062_T->A 5 138643062 138643062 T A snp 170.77 0/1 99 21 13 8 0.38 UTR5 rs12153162 MATR3 AD 0.446486 0.244 0.544218 0.6510 0.2842 Uncertain 5_138713959_A->C 5 138713959 138713959 A C snp 1544.77 1/1 99 58 0 58 1.0 exonic rs6596474 SLC23A1 AU nonsynonymous SNV NM_005847 exon11 c.T1261G p.S421A 0.999002 1 0.998844 0.9997 1 1 T 0.008 P -0.940 T 0.0 T 0.0 T Pathogenic 5_138714159_G->A 5 138714159 138714159 G A snp 438.77 0/1 99 18 5 13 0.72 intronic rs4257763 SLC23A1 AU NM_152685 exon6 c.6573-108G>A 0.378395 0.2946 Uncertain 5_138714474_G->A 5 138714474 138714474 G A snp 1852.77 0/1 99 146 74 72 0.49 intronic rs11950646 SLC23A1 AU NM_152685 exon6 c.6679+101G>A 0.377196 0.2937 Uncertain 5_138718476_T->C 5 138718476 138718476 T C snp 128.03 1/1 12 4 0 4 1.0 intronic rs11242461 SLC23A1 AU NM_152685 exon14 c.10600+182T>C 0.998802 1 Uncertain 5_138720108_C->T 5 138720108 138720108 C T snp 1415.77 0/1 99 114 55 59 0.52 intergenic rs11242462 SLC23A1 AU 0.542332 0.6548 0.4254 0.7304 1 T 1.0 P Uncertain 5_138720156_C->T 5 138720156 138720156 C T snp 1809.77 0/1 99 167 86 81 0.49 intergenic rs12515989 SLC23A1 AU 0.388778 0.3125 0.5514 0.2476 Uncertain 5_138720336_T->C 5 138720336 138720336 T C snp 812.77 1/1 60 23 0 23 1.0 intergenic rs6596476 SLC23A1 AU 0.985823 0.9831 Uncertain 5_138723272_TTA->- 5 138723272 138723274 TTA - indel 2218.73 0/1 99 100 57 43 0.43 UTR3 rs138375037 MZB1 AU 0.00199681 0.0099 Uncertain 5_138724127_G->- 5 138724127 138724127 G - indel 1727.73 1/1 99 48 0 48 1.0 intronic rs33937093 MZB1 AU NM_016459 exon3 c.696-22delG 0.989738 0.9949 0.9784 Uncertain 5_138724457_A->G 5 138724457 138724457 A G snp 218.84 1/1 18 6 0 6 1.0 intronic rs9327846 MZB1 AU NM_016459 exon3 c.821+183A>G 0.998802 1 Uncertain 5_138725023_C->A 5 138725023 138725023 C A snp 801.77 0/1 99 57 22 35 0.61 intronic rs117072954 MZB1 AU NM_016459 exon4 c.1915-345C>A 0.00239617 0.0119 Uncertain 5_138728483_A->G 5 138728483 138728483 A G snp 3511.77 1/1 99 126 0 126 1.0 exonic rs10078623 PROB1 AU nonsynonymous SNV NM_001161546 exon1 c.T2288C p.V763A 0.974042 0.9732 0.982182 0.9886 0.9714 1 T 0.0 P -0.984 T 0.0 T 0.0 T Pathogenic 5_138728533_C->T 5 138728533 138728533 C T snp 2110.77 0/1 99 159 71 88 0.55 exonic rs10063870 PROB1 AU synonymous SNV NM_001161546 exon1 c.G2238A p.E746E 0.576278 0.6518 0.5094 0.7069 Uncertain 5_138730037_T->C 5 138730037 138730037 T C snp 1571.77 0/1 99 109 52 57 0.52 exonic rs11748963 PROB1 AU nonsynonymous SNV NM_001161546 exon1 c.A734G p.Q245R 0.354034 0.6151 0.3089 0.6143 0.07 T 0.394 P -0.926 T 0.999 D 0.996 D Pathogenic 5_138732579_C->T 5 138732579 138732579 C T snp 1592.77 0/1 99 118 56 62 0.53 exonic rs10900862 SPATA24 AU synonymous SNV NM_194296 exon6 c.G528A p.E176E 0.388778 0.3135 0.503942 0.5547 0.3023 0.08 T 1.0 P -0.907 T 0.998 D 0.876 D Likely benign 5_138738178_C->T 5 138738178 138738178 C T snp 73.77 0/1 99 9 5 4 0.44 intronic rs4074032 SPATA24 AU NM_194296 exon5 c.5828-138C>T Uncertain 5_138754741_T->C 5 138754741 138754741 T C snp 853.77 0/1 99 99 56 43 0.43 intronic rs4835728 DNAJC18 AU NM_152686 exon2 c.5905-1000T>C 0.461262 0.3502 Uncertain 5_138775173_T->C 5 138775173 138775173 T C snp 1552.77 0/1 99 122 65 57 0.47 UTR5 rs3923059 DNAJC18 AU 0.591254 0.3909 0.698521 0.6750 0.3627 Uncertain 5_138852369_G->A 5 138852369 138852369 G A snp 1850.77 0/1 99 169 88 81 0.48 intergenic rs13153461 ECSCR AU 0.434305 0.372 0.5909 . Uncertain 5_138856982_C->T 5 138856982 138856982 C T snp 1811.77 0/1 99 127 56 71 0.56 exonic rs7380824 TMEM173 AD nonsynonymous SNV NM_198282 exon7 c.G878A p.R293Q 0.27496 0.4048 0.183454 0.2049 0.4205 0 D 1.000 P -1.009 T 1.0 D 0.999 D ID=CM114287;DIS=Defective IFNbeta stimulation;TAG=FP;PUB=21248775 FP Pathogenic 5_138857919_T->C 5 138857919 138857919 T C snp 2099.77 1/1 99 79 2 77 0.97 exonic rs1131769 TMEM173 AD nonsynonymous SNV NM_198282 exon6 c.A695G p.H232R 0.872804 0.8581 0.870060 0.8760 0.8797 1 T 0.000 P -0.987 T 0.0 T 0.0 T Pathogenic 5_138857925_C->G 5 138857925 138857925 C G snp 1015.77 0/1 99 85 42 43 0.51 exonic rs78233829 TMEM173 AD nonsynonymous SNV NM_198282 exon6 c.G689C p.G230A 0.267971 0.4058 0.174074 0.2031 0.4217 0.4 T 0.0 P -0.924 T 0.0 T 0.0 T Pathogenic 5_138861078_C->T 5 138861078 138861078 C T snp 1712.77 0/1 99 169 100 69 0.41 exonic rs11554776 TMEM173 AD nonsynonymous SNV NM_198282 exon3 c.G212A p.R71H 0.203075 0.4008 0.104798 0.1834 0.4172 0.16 T 0.0 P -0.940 T 0.008 T 0.002 T ID=CM114286;DIS=Defective IFNbeta stimulation;TAG=FP;PUB=21248775 FP Pathogenic 5_138861146_C->G 5 138861146 138861146 C G snp 2025.77 0/1 99 153 72 81 0.53 exonic rs7447927 TMEM173 AD synonymous SNV NM_198282 exon3 c.G144C p.V48V 0.428514 0.375 0.539290 0.6220 0.3732 Uncertain 5_139201382_G->A 5 139201382 139201382 G A snp 377.77 0/1 99 31 14 17 0.55 intronic rs7701014 PSD2 AU NM_032289 exon6 c.12452-95G>A 0.260184 0.2401 Uncertain 5_139202400_A->G 5 139202400 139202400 A G snp 802.77 0/1 99 80 46 34 0.42 intronic rs35306338 PSD2 AU NM_032289 exon7 c.13344+31A>G 0.288139 0.244 0.290866 0.2650 0.2535 Uncertain 5_139213452_A->G 5 139213452 139213452 A G snp 868.77 1/1 63 25 0 25 1.0 intronic rs4912884 PSD2 AU NM_032289 exon8 c.24351+76A>G 1 1 Uncertain 5_139216901_-->G 5 139216901 139216901 - G indel 4527.73 1/1 99 110 0 110 1.0 intronic rs11440487 PSD2 AU NM_032289 exon11 c.27798+78insG 1 1 Uncertain 5_139228065_G->A 5 139228065 139228065 G A snp 507.77 0/1 99 51 26 25 0.49 exonic rs554473987 NRG2 AU nonsynonymous SNV NM_001184935 exon8 c.C1792T p.P598S 0.000199681 0.001 0.35 T 1 D -1.093 T 0.103 T 0.058 T Pathogenic 5_139741370_C->A 5 139741370 139741370 C A snp 2804.77 1/1 99 105 0 105 1.0 intronic rs717097 SLC4A9 AU NM_001258426 exon4 c.1571-22C>A 0.430112 0.5615 0.401931 0.4486 0.5579 Uncertain 5_139744390_T->C 5 139744390 139744390 T C snp 99.28 1/1 9 3 0 3 1.0 intronic rs2112259 SLC4A9 AU NM_001258426 exon11 c.4389+180T>C 0.992212 1 Uncertain 5_139745154_T->C 5 139745154 139745154 T C snp 1582.77 1/1 99 57 0 57 1.0 exonic rs6860077 SLC4A9 AU synonymous SNV NM_001258426 exon12 c.T1668C p.I556I 0.709465 0.8353 0.676796 0.7155 0.8475 Uncertain 5_139912224_A->T 5 139912224 139912224 A T snp 421.77 1/1 33 12 0 12 1.0 intronic rs62384164 ANKHD1 AU NM_017747 exon30 c.133394-2722A>T 0.434704 0.5645 Uncertain 5_139921961_G->A 5 139921961 139921961 G A snp 417.77 1/1 33 12 0 12 1.0 intronic rs9324644 ANKHD1-EIF4EBP3 AU NM_020690 exon34 c.140314+95G>A 0.434505 0.5645 0.406264 Uncertain 5_139931628_-->GTC 5 139931628 139931628 - GTC indel 3999.73 1/1 99 74 0 74 1.0 exonic rs3085220 SRA1 AU nonframeshift insertion NM_001035235 exon3 c.328_329insGAC p.V110delinsGL 1.989e-05 0.0001 ID=COSM1192026;OCCURENCE=1(central_nervous_system) Uncertain 5_139931629_C->G 5 139931629 139931629 C G snp 1965.77 1/1 99 72 0 72 1.0 exonic rs202193903 SRA1 AU nonsynonymous SNV NM_001035235 exon3 c.G328C p.V110L 0.0010 0.0017 1.000 N -0.992 T 0.0 T 0.0 T Pathogenic 5_139931777_GG->- 5 139931777 139931778 GG - indel 1831.73 1/1 99 39 0 39 1.0 intronic rs60236323 SRA1 AU NM_001035235 exon3 c.1485+8_1485+9delGG 0.434105 0.5635 0.4122 0.5026 Uncertain 5_139931779_T->A 5 139931779 139931779 T A snp 1123.77 1/1 81 38 0 38 1.0 intronic rs10589076 SRA1 AU NM_001035235 exon3 c.1485+10T>A 0.434105 0.5635 0.4137 0.5064 Uncertain 5_139931930_C->T 5 139931930 139931930 C T snp 56.74 1/1 6 2 0 2 1.0 intronic rs801460 SRA1 AU NM_001035235 exon3 c.1485+161C>T 0.434704 0.5645 Uncertain 5_139936681_CC->- 5 139936681 139936682 CC - indel 3457.73 ./1 99 150 3 147 0.98 intronic rs58321242 SRA1 AU NM_001035235 exon4 c.6447-50_6447-49delCC Uncertain 5_139936681_C->- 5 139936681 139936681 C - indel 3457.73 ./1 99 150 3 147 0.98 intronic SRA1 AU NM_001035235 exon4 c.6447-50delC Uncertain 5_139936760_G->T 5 139936760 139936760 G T snp 4700.77 1/1 99 175 0 175 1.0 exonic rs250426 SRA1 AU stopgain NM_001253764 exon1 c.C278A p.S93X 0.631989 0.8254 0.585373 0.6880 0.8415 Pathogenic 5_139936980_A->G 5 139936980 139936980 A G snp 4584.77 1/1 99 173 0 173 1.0 exonic rs250427 SRA1 AU nonsynonymous SNV NM_001253764 exon1 c.T58C p.C20R 0.709065 0.8254 0.686847 0.7314 0.8409 Pathogenic 5_139937146_G->A 5 139937146 139937146 G A snp 296.78 1/1 24 8 0 8 1.0 UTR5 rs2249213 SRA1 AU 0.434305 0.5615 Uncertain 5_139940233_G->A 5 139940233 139940233 G A snp 7233.77 1/1 99 248 0 248 1.0 exonic rs250431 APBB3 AU synonymous SNV NM_133173 exon10 c.C1023T p.H341H 0.63139 0.8254 0.587729 0.6841 0.8416 Uncertain 5_139940302_G->A 5 139940302 139940302 G A snp 5703.77 1/1 99 205 0 205 1.0 exonic rs1800882 APBB3 AU synonymous SNV NM_133173 exon10 c.C954T p.T318T 0.0958466 0.3591 0.012686 0.0514 0.3737 ID=CM022855;DIS=Alzheimer disease, early-onset, decreased risk, association;TAG=DP;PUB=12402277 DP Uncertain 5_139941228_A->G 5 139941228 139941228 A G snp 5231.77 1/1 99 178 0 178 1.0 exonic rs250430 APBB3 AU nonsynonymous SNV NM_133173 exon7 c.T691C p.C231R 0.905751 0.8998 0.889820 0.8695 0.8885 0.866 P -0.962 T 0.0 T 0.0 T Pathogenic 5_139941318_A->G 5 139941318 139941318 A G snp 5562.77 1/1 99 190 1 189 0.99 intronic rs171632 APBB3 AU NM_006051 exon6 c.3144+5A>G 0.704473 0.8254 0.665231 0.7071 0.8411 Uncertain 5_140011315_C->A 5 140011315 140011315 C A snp 221.77 0/1 73 10 3 7 0.7 UTR3 rs2563298 CD14 AU 0.208067 0.1319 Uncertain 5_140023818_C->T 5 140023818 140023818 C T snp 1146.77 0/1 99 79 36 43 0.54 intronic rs753279 TMCO6 AU NM_001300980 exon10 c.4667+39C>T 0.432907 0.5069 0.407710 0.4333 0.5024 Uncertain 5_140024042_T->C 5 140024042 140024042 T C snp 337.77 0/1 99 19 8 11 0.58 intronic rs753280 TMCO6 AU NM_001300980 exon11 c.5045-115T>C 0.438299 0.4494 Uncertain 5_140024432_C->T 5 140024432 140024432 C T snp 325.77 0/1 99 21 11 10 0.48 intronic rs702399 TMCO6 AU NM_001300980 exon11 c.5213+107C>T 0.414137 0.4484 Uncertain 5_140024491_A->G 5 140024491 140024491 A G snp 338.77 0/1 99 26 14 12 0.46 intronic rs702398 TMCO6 AU NM_001300980 exon12 c.5457-78A>G 0.498203 0.4494 Uncertain 5_140027216_T->C 5 140027216 140027216 T C snp 1558.77 0/1 99 146 77 69 0.47 UTR5 rs778593 NDUFA2 AR,AO 0.377796 0.4494 0.368608 0.4773 0.5110 Uncertain 5_140027304_T->C 5 140027304 140027304 T C snp 394.77 0/1 99 25 12 13 0.52 UTR5 rs778594 NDUFA2 AR,AO 0.377596 0.4494 0.4899 0.5409 Uncertain 5_140031537_G->A 5 140031537 140031537 G A snp 845.77 0/1 99 65 33 32 0.49 intronic rs1583005 IK AU NM_006083 exon4 c.4179-135G>A 0.406749 0.4484 Uncertain 5_140037272_G->A 5 140037272 140037272 G A snp 998.77 0/1 99 81 32 49 0.6 intronic rs778596 IK AU NM_006083 exon10 c.9754+25G>A 0.417532 0.4524 0.419379 0.4436 0.4565 Uncertain 5_140041960_T->G 5 140041960 140041960 T G snp 381.77 0/1 99 24 10 14 0.58 UTR3 rs4801 IK AU 0.1873 0.1518 0.208072 0.1955 0.1470 Uncertain 5_140048209_T->C 5 140048209 140048209 T C snp 1831.77 0/1 99 122 46 76 0.62 exonic rs2251860 WDR55 AU synonymous SNV NM_017706 exon4 c.T393C p.N131N 0.508986 0.4544 0.515685 0.4722 0.4567 Uncertain 5_140048267_T->C 5 140048267 140048267 T C snp 3155.77 1/1 99 105 0 105 1.0 exonic rs2530245 WDR55 AU nonsynonymous SNV NM_017706 exon4 c.T451C p.C151R 0.952276 1 0.950408 0.9862 1 0.96 T 0.171 P -0.995 T 0.0 T 0.0 T Pathogenic 5_140051983_C->T 5 140051983 140051983 C T snp 214.74 0/1 6 12 2 10 0.83 intronic rs2530243 DND1 AU NM_194249 exon2 c.1152-46C>T 0.419574 0.4898 0.5690 Uncertain 5_140052271_A->G 5 140052271 140052271 A G snp 124.77 0/1 99 13 7 6 0.46 exonic rs2563333 DND1 AU synonymous SNV NM_194249 exon3 c.T363C p.H121H 0.511581 0.4524 0.5326 0.5333 Uncertain 5_140054485_C->T 5 140054485 140054485 C T snp 1278.77 0/1 99 96 47 49 0.51 intronic rs2530241 HARS AR,AD NM_001289092 exon2 c.569+75C>T 0.386781 0.4514 Uncertain 5_140057216_G->A 5 140057216 140057216 G A snp 946.77 0/1 99 64 29 35 0.55 intronic rs811382 HARS AR,AD NM_001289092 exon7 c.3398-23G>A 0.186502 0.1508 0.208827 0.1954 0.1463 Uncertain 5_140062547_C->T 5 140062547 140062547 C T snp 145.77 0/1 99 17 10 7 0.41 intronic rs2530239 HARS AR,AD NM_001289092 exon9 c.8843-137C>T 0.505192 0.4524 Uncertain 5_140062751_G->A 5 140062751 140062751 G A snp 1937.77 0/1 99 187 101 86 0.46 exonic rs142994969 HARS AR,AD synonymous SNV NM_002109 exon3 c.C234T p.D78D 0.00339457 0.0159 0.0017 0.0224 Uncertain 5_140077699_A->G 5 140077699 140077699 A G snp 1629.77 1/1 99 47 0 47 1.0 intronic rs2530234 HARS2 AR NM_012208 exon12 c.6430+36A>G 0.952276 1 0.950331 0.9864 1 Uncertain 5_140080298_T->C 5 140080298 140080298 T C snp 144.77 0/1 99 11 6 5 0.45 intronic rs801168 ZMAT2 AU NM_144723 exon2 c.358-105T>C 0.416933 0.4514 Uncertain 5_140081791_A->G 5 140081791 140081791 A G snp 673.77 0/1 99 59 29 30 0.51 intronic rs809635 ZMAT2 AU NM_144723 exon3 c.1669+77A>G 0.416933 0.4514 Uncertain 5_140167463_C->T 5 140167463 140167463 C T snp 695.77 0/1 99 70 42 28 0.4 exonic PCDHA1 AU synonymous SNV NM_018900 exon1 c.C1588T p.L530L 0.521565 0.5149 0.517377 0.5242 0.5181 Uncertain 5_140168070_A->G 5 140168070 140168070 A G snp 954.77 0/1 99 87 45 42 0.48 exonic PCDHA1 AU nonsynonymous SNV NM_018900 exon1 c.A2195G p.Y732C 0.525359 0.5317 0.517069 0.5253 0.5322 0.83 T 0.0 P -0.983 T 0.0 T 0.001 T Pathogenic 5_140168151_G->T 5 140168151 140168151 G T snp 1338.77 0/1 99 111 54 57 0.51 exonic PCDHA1 AU nonsynonymous SNV NM_018900 exon1 c.G2276T p.C759F 0.524161 0.5317 0.516070 0.5252 0.5315 0.01 T 0.339 P -0.944 T 0.169 T 0.067 T Pathogenic 5_140174622_G->A 5 140174622 140174622 G A snp 1579.77 0/1 99 110 44 66 0.6 exonic PCDHA2 AU nonsynonymous SNV NM_018905 exon1 c.G73A p.E25K 0.526158 0.5317 0.514995 0.5257 0.5298 0.16 T 0.0 P -0.930 T 0.019 T 0.03 T Pathogenic 5_140174865_G->C 5 140174865 140174865 G C snp 1452.77 0/1 99 98 43 55 0.56 exonic PCDHA2 AU nonsynonymous SNV NM_018905 exon1 c.G316C p.V106L 0.599042 0.5317 0.593957 0.5469 0.5323 1 T 0.000 P -0.915 T 0.001 T 0.001 T Pathogenic 5_140180737_C->T 5 140180737 140180737 C T snp 797.77 0/1 99 67 30 37 0.55 intronic PCDHA1 AU NM_031410 exon1 c.2570+12292C>T 0.601238 0.5317 0.596955 0.5468 0.5306 Uncertain 5_140181734_A->G 5 140181734 140181734 A G snp 3212.77 0/1 99 250 133 117 0.47 exonic PCDHA3 AU nonsynonymous SNV NM_018906 exon1 c.A952G p.I318V 0.525359 0.5317 0.517069 0.5249 0.5308 0 D 0.030 P -0.848 T 0.517 P 0.651 P Pathogenic 5_140181892_T->C 5 140181892 140181892 T C snp 2213.77 0/1 99 174 87 87 0.5 exonic PCDHA3 AU synonymous SNV NM_018906 exon1 c.T1110C p.A370A 0.601238 0.5317 0.597109 0.5477 0.5314 Uncertain 5_140182101_G->T 5 140182101 140182101 G T snp 1212.77 0/1 99 96 45 51 0.53 exonic PCDHA3 AU nonsynonymous SNV NM_018906 exon1 c.G1319T p.S440I 0.591454 0.5327 0.587512 0.5450 0.5310 0.12 T 0.026 P -0.999 T 0.402 T 0.438 T Pathogenic 5_140183058_G->A 5 140183058 140183058 G A snp 2667.77 0/1 99 209 97 112 0.54 exonic PCDHA3 AU nonsynonymous SNV NM_018906 exon1 c.G2276A p.C759Y 0.525359 0.5317 0.517069 0.5249 0.5305 0.01 T 0.032 P -0.978 T 0.035 T 0.042 T Pathogenic 5_140183325_G->C 5 140183325 140183325 G C snp 34.77 0/1 63 7 5 2 0.29 intronic PCDHA1 AU NM_031410 exon1 c.2570+14880G>C 0.591254 0.5317 Uncertain 5_140186438_G->C 5 140186438 140186438 G C snp 1104.77 0/1 99 84 41 43 0.51 intronic PCDHA1 AU NM_031410 exon1 c.2570+17993G>C 0.456869 0.5317 Uncertain 5_140186657_A->G 5 140186657 140186657 A G snp 2138.77 0/1 99 142 60 82 0.58 intronic PCDHA1 AU NM_031410 exon1 c.2570+18212A>G 0.591254 0.5317 Uncertain 5_140186937_G->T 5 140186937 140186937 G T snp 209.77 0/1 99 14 7 7 0.5 exonic PCDHA4 AU nonsynonymous SNV NM_018907 exon1 c.G165T p.E55D 0.331869 0.5139 0.266805 0.3667 0.5107 0.16 T 0.000 P -0.929 T 0.011 T 0.028 T Pathogenic 5_140187048_G->C 5 140187048 140187048 G C snp 615.77 0/1 99 52 28 24 0.46 exonic PCDHA4 AU synonymous SNV NM_018907 exon1 c.G276C p.R92R 0.5200 0.5172 Uncertain 5_140187102_A->G 5 140187102 140187102 A G snp 1070.77 0/1 99 93 47 46 0.49 exonic PCDHA4 AU synonymous SNV NM_018907 exon1 c.A330G p.V110V 0.5237 0.5235 Uncertain 5_140187322_C->T 5 140187322 140187322 C T snp 2136.77 0/1 99 155 68 87 0.56 exonic PCDHA4 AU nonsynonymous SNV NM_018907 exon1 c.C550T p.P184S 0.591254 0.5317 0.587114 0.5450 0.5300 0.73 T 0.0 P -0.981 T 0.002 T 0.002 T Pathogenic 5_140188383_T->G 5 140188383 140188383 T G snp 811.77 0/1 99 61 30 31 0.51 exonic PCDHA4 AU synonymous SNV NM_018907 exon1 c.T1611G p.A537A 0.591254 0.5317 0.586050 0.5445 0.5312 Uncertain 5_140188401_A->G 5 140188401 140188401 A G snp 1013.77 0/1 99 80 39 41 0.51 exonic PCDHA4 AU synonymous SNV NM_018907 exon1 c.A1629G p.P543P 0.591254 0.5317 0.586973 0.5446 0.5326 Uncertain 5_140188575_G->C 5 140188575 140188575 G C snp 1535.77 0/1 99 120 63 57 0.47 exonic PCDHA4 AU synonymous SNV NM_018907 exon1 c.G1803C p.S601S 0.591454 0.5317 0.588896 0.5453 0.5309 Uncertain 5_140201264_C->T 5 140201264 140201264 C T snp 749.77 0/1 99 54 24 30 0.56 intronic PCDHA1 AU NM_031410 exon1 c.2570+32819C>T 0.600839 0.5317 Uncertain 5_140201420_T->C 5 140201420 140201420 T C snp 2538.77 0/1 99 209 98 111 0.53 exonic PCDHA5 AU synonymous SNV NM_018908 exon1 c.T60C p.L20L 0.601038 0.5337 0.583269 0.5478 0.5304 Uncertain 5_140203432_C->T 5 140203432 140203432 C T snp 1126.77 0/1 99 104 52 52 0.5 exonic PCDHA5 AU nonsynonymous SNV NM_018908 exon1 c.C2072T p.A691V 0.534145 0.5317 0.526453 0.5283 0.5313 0.12 T 0.0 P -0.929 T 0.007 T 0.008 T Pathogenic 5_140209467_T->G 5 140209467 140209467 T G snp 2313.77 0/1 99 199 96 103 0.52 exonic PCDHA6 AU synonymous SNV NM_018909 exon1 c.T1791G p.V597V 0.60024 0.5327 0.594726 0.5475 0.5316 Uncertain 5_140213796_G->A 5 140213796 140213796 G A snp 46.77 0/1 33 3 1 2 0.67 intronic PCDHA1 AU NM_031410 exon1 c.2570+45351G>A 0.601637 0.5337 Uncertain 5_140214381_G->A 5 140214381 140214381 G A snp 1303.77 0/1 99 248 156 92 0.37 exonic PCDHA7 AU nonsynonymous SNV NM_018910 exon1 c.G413A p.R138K 0.5073 0.5234 0.72 T 0.0 P -0.963 T 0.0 T 0.003 T Pathogenic 5_140221139_G->A 5 140221139 140221139 G A snp 201.77 0/1 97 10 3 7 0.7 exonic PCDHA8 AU nonsynonymous SNV NM_018911 exon1 c.G233A p.S78N 0.595248 0.5337 0.545504 0.5366 0.5271 1 T 0.0 P -0.943 T 0.0 T 0.0 T Pathogenic 5_140222157_A->C 5 140222157 140222157 A C snp 1759.77 0/1 99 127 63 64 0.5 exonic PCDHA8 AU nonsynonymous SNV NM_018911 exon1 c.A1251C p.R417S 0.383387 0.5268 0.321539 0.4058 0.5265 1 T 0.0 P -0.964 T 0.0 T 0.005 T Pathogenic 5_140222641_A->G 5 140222641 140222641 A G snp 1545.77 0/1 99 143 74 69 0.48 exonic PCDHA8 AU nonsynonymous SNV NM_018911 exon1 c.A1735G p.K579E 0.575479 0.5268 0.554299 0.5060 0.5301 1 T 0.0 P -0.982 T 0.0 T 0.0 T Pathogenic 5_140228164_C->A 5 140228164 140228164 C A snp 2958.77 1/1 99 101 0 101 1.0 exonic PCDHA9 AU nonsynonymous SNV NM_014005 exon1 c.C84A p.S28R 0.450479 0.4554 0.443396 0.5218 0.4780 0.09 T 0.000 P -0.972 T 0.008 T 0.01 T Pathogenic 5_140229086_C->G 5 140229086 140229086 C G snp 2746.77 1/1 99 101 1 100 0.99 exonic PCDHA9 AU nonsynonymous SNV NM_014005 exon1 c.C1006G p.L336V 0.644049 0.6260 0.4837 1 T 0.0 P -0.949 T 0.0 T 0.017 T Pathogenic 5_140230370_A->C 5 140230370 140230370 A C snp 4811.77 1/1 99 177 0 177 1.0 exonic PCDHA9 AU nonsynonymous SNV NM_014005 exon1 c.A2290C p.K764Q 0.626198 0.4563 0.656955 0.6232 0.4809 0.02 T 0.0 P -1.024 T 0.0 T 0.0 T Pathogenic 5_140230371_A->C 5 140230371 140230371 A C snp 4744.77 1/1 99 174 0 174 1.0 exonic PCDHA9 AU nonsynonymous SNV NM_014005 exon1 c.A2291C p.K764T 0.625399 0.4563 0.656699 0.6230 0.4806 0.01 T 0.0 P -1.020 T 0.001 T 0.0 T Pathogenic 5_140237387_T->G 5 140237387 140237387 T G snp 3985.77 1/1 99 145 0 145 1.0 exonic PCDHA10 AU nonsynonymous SNV NM_018901 exon1 c.T1754G p.V585G 0.609026 0.4474 0.646554 0.6235 0.4686 0.63 T 0.0 P -0.971 T 0.0 T 0.001 T Pathogenic 5_140237548_A->G 5 140237548 140237548 A G snp 8022.77 1/1 99 250 0 250 1.0 exonic PCDHA10 AU nonsynonymous SNV NM_018901 exon1 c.A1915G p.T639A 0.609026 0.4474 0.647010 0.6268 0.4704 0.95 T 0.0 P -0.931 T 0.001 T 0.004 T Pathogenic 5_140242452_C->- 5 140242452 140242452 C - indel 2495.73 1/1 99 61 0 61 1.0 intronic PCDHA1 AU NM_031410 exon1 c.2570+74007delC 0.630791 0.4554 0.6622 0.4942 Uncertain 5_140242479_T->A 5 140242479 140242479 T A snp 2626.77 1/1 99 88 0 88 1.0 intronic PCDHA1 AU NM_031410 exon1 c.2570+74034T>A 0.627596 0.4554 0.6660 0.5075 0 D 0.0 P -0.989 T 0.153 T 0.086 T Uncertain 5_140248539_C->T 5 140248539 140248539 C T snp 458.77 1/1 36 12 0 12 1.0 UTR5 PCDHA11 AU 0.449081 0.4375 Uncertain 5_140250146_C->A 5 140250146 140250146 C A snp 1828.77 0/1 99 100 31 69 0.69 exonic rs544569992 PCDHA11 AU nonsynonymous SNV NM_018902 exon1 c.C1458A p.N486K 6.609e-05 0.0009 0 D 0.836 N -0.218 T 1.0 D 1.0 D ID=COSM1186852;OCCURENCE=1(lung) Pathogenic 5_140250252_T->C 5 140250252 140250252 T C snp 1451.77 1/1 99 41 0 41 1.0 exonic PCDHA11 AU synonymous SNV NM_018902 exon1 c.T1564C p.L522L 0.449081 0.4375 0.426586 0.4832 0.4564 Uncertain 5_140255792_C->A 5 140255792 140255792 C A snp 6858.77 1/1 99 250 2 248 0.99 exonic PCDHA12 AU synonymous SNV NM_018903 exon1 c.C735A p.P245P 0.438498 0.4256 0.431127 0.4817 0.45 Uncertain 5_140263290_T->G 5 140263290 140263290 T G snp 2320.77 1/1 99 77 1 76 0.99 exonic PCDHA13 AU synonymous SNV NM_018904 exon1 c.T1437G p.A479A 0.633586 0.4762 0.682531 0.6513 0.4899 Uncertain 5_140389536_A->G 5 140389536 140389536 A G snp 1815.77 0/1 99 157 86 71 0.45 UTR3 PCDHA1 AU 0.0119808 0.0565 0.000231 0.0075 0.0843 Uncertain 5_140476653_G->A 5 140476653 140476653 G A snp 1602.77 0/1 99 169 96 73 0.43 exonic PCDHB2 AU nonsynonymous SNV NM_018936 exon1 c.G2279A p.G760D 0.148962 0.122 0.183954 0.1655 0.1310 1 T 0.0 P -0.942 T 0.034 T 0.029 T Pathogenic 5_140476654_C->A 5 140476654 140476654 C A snp 1713.77 0/1 99 172 95 77 0.45 exonic PCDHB2 AU synonymous SNV NM_018936 exon1 c.C2280A p.G760G 0.148962 0.122 0.184032 0.1655 0.1309 Uncertain 5_140480852_G->A 5 140480852 140480852 G A snp 1942.77 0/1 99 168 87 81 0.48 exonic PCDHB3 AU nonsynonymous SNV NM_018937 exon1 c.G619A p.E207K 0.148962 0.122 0.184838 0.1627 0.1265 0.18 T 0.0 P -1.106 T 0.971 D 0.795 D Pathogenic 5_140481475_A->T 5 140481475 140481475 A T snp 1029.77 0/1 99 86 44 42 0.49 exonic PCDHB3 AU nonsynonymous SNV NM_018937 exon1 c.A1242T p.R414S 0.148962 0.122 0.185914 0.1624 0.1266 0.38 T 0.0 P -1.005 T 0.08 T 0.05 T Pathogenic 5_140481477_C->G 5 140481477 140481477 C G snp 1091.77 0/1 99 81 39 42 0.52 exonic PCDHB3 AU nonsynonymous SNV NM_018937 exon1 c.C1244G p.S415C 0.00778754 0.0387 0.0021 0.0287 0 D 1 N -1.125 T 0.783 T 0.617 P Pathogenic 5_140482483_G->A 5 140482483 140482483 G A snp 2193.77 1/1 99 132 30 102 0.77 exonic PCDHB3 AU synonymous SNV NM_018937 exon1 c.G2250A p.Q750Q 0.769169 0.8849 0.6362 0.8885 Uncertain 5_140502343_C->T 5 140502343 140502343 C T snp 2224.77 0/1 99 180 82 98 0.54 exonic PCDHB4 AU nonsynonymous SNV NM_018938 exon1 c.C763T p.P255S 0.148363 0.119 0.176841 0.1616 0.1259 0.04 T 0.997 P -1.009 T 0.455 P 0.367 P Pathogenic 5_140502344_C->T 5 140502344 140502344 C T snp 2225.77 0/1 99 180 82 98 0.54 exonic PCDHB4 AU nonsynonymous SNV NM_018938 exon1 c.C764T p.P255L 0.148363 0.119 0.176611 0.1616 0.1259 0.02 T 1.000 P -0.984 T 0.163 T 0.25 T Pathogenic 5_140517174_T->C 5 140517174 140517174 T C snp 257.77 0/1 99 17 8 9 0.53 exonic PCDHB5 AU nonsynonymous SNV NM_015669 exon1 c.T2158C p.S720P 0.85024 0.8819 0.810480 0.8362 0.8730 0.11 T 0.0 P -0.945 T 0.932 T 0.757 D Pathogenic 5_140537157_G->C 5 140537157 140537157 G C snp 376.77 0/1 99 41 24 17 0.41 ncRNA_exonic PCDHB17P AU 0.0120 0.0596 0.99 T -1.016 T 0.011 T 0.002 T Uncertain 5_140537363_C->T 5 140537363 140537363 C T snp 178.9 1/1 15 6 1 5 0.83 ncRNA_exonic PCDHB17P AU 0.996206 0.996 0.9984 0.9978 Uncertain 5_140559914_T->C 5 140559914 140559914 T C snp 537.77 0/1 99 45 18 27 0.6 exonic PCDHB8 AU nonsynonymous SNV NM_019120 exon1 c.T2299C p.F767L 0.194289 0.1171 0.253421 0.2938 0.1351 0.02 T 0.121 P -1.020 T 0.098 T 0.109 T Pathogenic 5_140561983_A->G 5 140561983 140561983 A G snp 851.77 1/1 66 23 0 23 1.0 UTR5 PCDHB16 AU 0.340455 0.3403 Uncertain 5_140563574_A->G 5 140563574 140563574 A G snp 259.8 1/1 21 7 0 7 1.0 exonic PCDHB16 AU synonymous SNV NM_020957 exon1 c.A1440G p.S480S 0.3932 0.3727 Uncertain 5_140567608_C->T 5 140567608 140567608 C T snp 4147.77 1/1 99 153 0 153 1.0 exonic PCDHB9 AU unknown 0.371006 0.3393 0.393049 0.4033 0.3859 Uncertain 5_140568034_-->A 5 140568034 140568034 - A indel 10307.7 1/1 99 247 0 247 1.0 exonic rs33974901 PCDHB9 AU unknown 1 1 0.999920 1.0000 1 Uncertain 5_140588965_A->G 5 140588965 140588965 A G snp 2887.77 0/1 99 241 122 119 0.49 exonic PCDHB12 AU synonymous SNV NM_018932 exon1 c.A486G p.V162V 1.651e-05 0.0002 Uncertain 5_140620056_A->G 5 140620056 140620056 A G snp 1110.77 0/1 99 94 42 52 0.55 ncRNA_exonic PCDHB19P AU 0.00658946 0.0308 0.0043 0.1178 Uncertain 5_140683265_G->A 5 140683265 140683265 G A snp 7821.77 1/1 99 250 2 248 0.99 exonic rs11952797 SLC25A2 AU synonymous SNV NM_031947 exon1 c.C168T p.A56A 0.515375 0.5873 0.524527 0.5802 0.5773 Uncertain 5_140710705_G->A 5 140710705 140710705 G A snp 2436.77 1/1 99 92 0 92 1.0 exonic rs2472647 PCDHGA1 AU nonsynonymous SNV NM_018912 exon1 c.G454A p.V152I 0.934904 0.8938 0.956559 0.9606 0.8765 0.31 T 0.0 P -1.028 T 0.0 T 0.0 T Pathogenic 5_140720516_C->G 5 140720516 140720516 C G snp 288.78 1/1 24 9 0 9 1.0 exonic rs35592458 PCDHGA2 AU nonsynonymous SNV NM_018915 exon1 c.C1978G p.L660V 0.385982 0.5903 0.353018 0.4697 0.5860 0.37 T 0.000 P -0.935 T 0.092 T 0.182 T Pathogenic 5_140750044_T->C 5 140750044 140750044 T C snp 4761.77 1/1 99 166 0 166 1.0 exonic rs6860609 PCDHGB3 AU nonsynonymous SNV NM_018924 exon1 c.T83C p.V28A 1 1 1 1 Pathogenic 5_140772494_G->C 5 140772494 140772494 G C snp 1330.77 0/1 99 127 74 53 0.42 exonic rs758960557 PCDHGA8 AU nonsynonymous SNV NM_014004 exon1 c.G114C p.E38D 1.666e-05 0.0002 0 D 0.964 N -0.309 T 1.0 D 0.994 D Pathogenic 5_140774288_T->C 5 140774288 140774288 T C snp 3407.77 1/1 99 90 0 90 1.0 exonic rs4912749 PCDHGA8 AU synonymous SNV NM_014004 exon1 c.T1908C p.D636D 0.999401 0.999 0.999845 0.9998 0.9999 Uncertain 5_140868701_A->C 5 140868701 140868701 A C snp 1069.77 0/1 99 62 24 38 0.61 intronic rs2233600 PCDHGA1 AU NM_018912 exon2 c.164122-5672A>C 0.0469249 0.2272 Uncertain 5_141016276_T->C 5 141016276 141016276 T C snp 7594.77 1/1 99 247 0 247 1.0 intronic rs32954 HDAC3 AU NM_003883 exon15 c.15268-26T>C 1 1 1.0000 0.9999 Uncertain 5_141034780_A->C 5 141034780 141034780 A C snp 149.77 0/1 99 16 9 7 0.44 intronic ARAP3 AU NM_022481 exon2 c.1412-148A>C Uncertain 5_141034793_AC->- 5 141034793 141034794 AC - indel 117.73 0/1 99 22 16 6 0.27 intronic rs565984505 ARAP3 AU NM_022481 exon2 c.1412-135_1412-134delAC Uncertain 5_141036337_A->G 5 141036337 141036337 A G snp 2241.77 0/1 99 161 74 87 0.54 exonic rs7703648 ARAP3 AU synonymous SNV NM_022481 exon26 c.T3603C p.A1201A 0.48143 0.3889 0.488082 0.4489 0.4170 Uncertain 5_141041148_G->A 5 141041148 141041148 G A snp 482.77 0/1 99 42 22 20 0.48 intronic rs6891143 ARAP3 AU NM_022481 exon13 c.7734-102G>A 0.135982 0.247 Uncertain 5_141041435_G->A 5 141041435 141041435 G A snp 415.77 0/1 99 27 12 15 0.56 intronic rs3749759 ARAP3 AU NM_022481 exon13 c.7840+79G>A 0.707668 0.5933 Uncertain 5_141044472_A->G 5 141044472 141044472 A G snp 300.77 0/1 99 38 25 13 0.34 intronic rs2306337 ARAP3 AU NM_022481 exon15 c.10972-16A>G 0.139177 0.246 0.135175 0.2163 0.3347 Uncertain 5_141049407_G->A 5 141049407 141049407 G A snp 1221.77 0/1 99 113 55 58 0.51 intronic rs3763120 ARAP3 AU NM_022481 exon18 c.15862+29G>A 0.421126 0.4395 0.410964 0.4520 0.4392 Uncertain 5_141052870_G->C 5 141052870 141052870 G C snp 451.77 0/1 99 22 9 13 0.59 intronic rs440279 ARAP3 AU NM_022481 exon28 c.19451-97G>C 0.71885 0.6032 Uncertain 5_141059649_A->G 5 141059649 141059649 A G snp 1288.77 0/1 99 126 74 52 0.41 exonic rs417503 ARAP3 AU synonymous SNV NM_022481 exon2 c.T405C p.P135P 0.783347 0.6052 0.783408 0.7430 0.5757 Uncertain 5_141059868_T->C 5 141059868 141059868 T C snp 2671.77 0/1 99 248 134 114 0.46 exonic rs11167756 ARAP3 AU synonymous SNV NM_022481 exon2 c.A186G p.L62L 0.465655 0.4683 0.428264 0.4516 0.4675 Uncertain 5_141235917_GGGAGGTTAGACAAGGGCCC->- 5 141235917 141235936 GGGAGGTTAGACAAGGGCCC - indel 1554.75 1/1 24 32 0 32 1.0 intronic rs145694332 PCDH1 AU NM_032420 exon2 c.3210-899_3210-880delGGGAGGTTAGACAAGGGCCC 0.767372 0.8264 Uncertain 5_141243646_A->G 5 141243646 141243646 A G snp 5786.77 1/1 99 191 0 191 1.0 exonic rs3797054 PCDH1 AU synonymous SNV NM_001278615 exon2 c.T1113C p.A371A 0.420727 0.5784 0.337921 0.3915 0.5616 Uncertain 5_141304314_T->A 5 141304314 141304314 T A snp 1734.77 1/1 99 63 0 63 1.0 intronic rs6580206 KIAA0141 AU NM_014773 exon2 c.754+54T>A 0.715855 0.7669 Uncertain 5_141309900_G->A 5 141309900 141309900 G A snp 273.77 0/1 99 21 10 11 0.52 intronic rs77944290 KIAA0141 AU NM_014773 exon7 c.6333+61G>A 0.00858626 0.0288 Uncertain 5_141324955_-->CTGCTGCTG 5 141324955 141324955 - CTGCTGCTG indel 15918.7 1/1 99 182 0 182 1.0 exonic rs5871792 PCDH12 AU nonframeshift insertion NM_016580 exon4 c.3545_3546insCAGCAGCAG p.R1182delinsSSSR 0.522764 0.8323 0.164397 0.4348 0.6870 ID=COSM1063580;OCCURENCE=2(breast),8(large_intestine),1(liver),3(urinary_tract),1(ovary),1(endometrium) Uncertain 5_141325249_T->C 5 141325249 141325249 T C snp 4795.77 1/1 99 181 0 181 1.0 exonic rs105633 PCDH12 AU synonymous SNV NM_016580 exon4 c.A3252G p.P1084P 0.991813 1 0.986160 0.9840 0.9999 Uncertain 5_141335241_A->G 5 141335241 141335241 A G snp 6800.77 1/1 99 250 0 250 1.0 exonic rs164073 PCDH12 AU synonymous SNV NM_016580 exon1 c.T2176C p.L726L 0.780152 0.8581 0.663694 0.6519 0.8253 Uncertain 5_141335284_G->A 5 141335284 141335284 G A snp 7108.77 1/1 99 249 0 249 1.0 exonic rs164074 PCDH12 AU synonymous SNV NM_016580 exon1 c.C2133T p.A711A 0.597045 0.8581 0.475473 0.5827 0.8232 Uncertain 5_141336264_G->T 5 141336264 141336264 G T snp 3737.77 1/1 99 126 0 126 1.0 exonic rs164075 PCDH12 AU nonsynonymous SNV NM_016580 exon1 c.C1153A p.H385N 0.632862 0.6281 0.8187 0.63 T 0.0 P -1.006 T 0.0 T 0.0 T Pathogenic 5_141337126_C->T 5 141337126 141337126 C T snp 7770.77 1/1 99 250 0 250 1.0 exonic rs164076 PCDH12 AU synonymous SNV NM_016580 exon1 c.G291A p.L97L 0.591853 0.8492 0.449946 0.5627 0.8172 Uncertain 5_141337225_A->G 5 141337225 141337225 A G snp 6916.77 1/1 99 250 2 248 0.99 exonic rs164077 PCDH12 AU synonymous SNV NM_016580 exon1 c.T192C p.A64A 0.752396 0.9732 0.706136 0.8021 0.9656 Uncertain 5_141354220_G->C 5 141354220 141354220 G C snp 136.03 1/1 12 4 0 4 1.0 intronic rs187542 RNF14 AU NM_183399 exon3 c.1215-148G>C 0.83746 0.9802 Uncertain 5_141357720_TGTA->- 5 141357720 141357723 TGTA - indel 989.73 1/1 45 15 0 15 1.0 intronic rs555218075 RNF14 AU NM_183399 exon4 c.4714-147_4714-144delTGTA 0.921725 0.9831 Uncertain 5_141359525_A->G 5 141359525 141359525 A G snp 44.74 1/1 6 2 0 2 1.0 intronic rs365916 RNF14 AU NM_183399 exon5 c.6534-162A>G 0.840855 0.9802 Uncertain 5_141364511_A->G 5 141364511 141364511 A G snp 6875.77 1/1 99 248 0 248 1.0 intronic rs252099 RNF14 AU NM_183399 exon7 c.11345+13A>G 0.913339 0.9831 0.868522 0.8763 0.9844 Uncertain 5_141364637_C->T 5 141364637 141364637 C T snp 1836.77 1/1 99 55 0 55 1.0 intronic rs252100 RNF14 AU NM_183399 exon7 c.11345+139C>T 0.913339 0.9831 Uncertain 5_141367202_G->T 5 141367202 141367202 G T snp 1847.77 1/1 99 69 0 69 1.0 intronic rs374840 RNF14 AU NM_183399 exon8 c.14144-95G>T 0.813498 0.9802 Uncertain 5_141367203_A->T 5 141367203 141367203 A T snp 1844.77 1/1 99 69 0 69 1.0 intronic rs424485 RNF14 AU NM_183399 exon8 c.14144-94A>T 0.813498 0.9802 Uncertain 5_141371573_T->G 5 141371573 141371573 T G snp 31.77 0/1 60 5 3 2 0.4 intergenic RNF14 AU Uncertain 5_141382584_T->C 5 141382584 141382584 T C snp 722.77 1/1 54 22 0 22 1.0 intronic rs252114 GNPDA1 AU NM_005471 exon2 c.1059-68T>C 0.922324 0.9792 Uncertain 5_141383028_A->G 5 141383028 141383028 A G snp 56.74 1/1 6 2 0 2 1.0 intronic rs252113 GNPDA1 AU NM_005471 exon2 c.1234+201A>G 0.925719 0.9841 Uncertain 5_141391532_G->A 5 141391532 141391532 G A snp 1120.77 0/1 99 146 98 48 0.33 exonic rs164080 GNPDA1 AU synonymous SNV NM_005471 exon2 c.C69T p.R23R 0.544728 0.625 0.514993 0.4871 0.6197 Uncertain 5_141511561_G->A 5 141511561 141511561 G A snp 520.77 1/1 39 15 0 15 1.0 intronic rs2338820 NDFIP1 AU NM_030571 exon2 c.22921+101G>A 0.173922 0.3542 Uncertain 5_141511660_A->G 5 141511660 141511660 A G snp 840.77 1/1 63 24 0 24 1.0 intronic rs10515512 NDFIP1 AU NM_030571 exon3 c.23237-116A>G 0.173922 0.3542 Uncertain 5_141512017_G->C 5 141512017 141512017 G C snp 508.77 1/1 39 15 0 15 1.0 intronic rs77710969 NDFIP1 AU NM_030571 exon3 c.23368+110G>C 0.173922 0.3542 Uncertain 5_141512019_T->A 5 141512019 141512019 T A snp 477.77 1/1 36 14 0 14 1.0 intronic rs76426931 NDFIP1 AU NM_030571 exon3 c.23368+112T>A 0.173922 0.3542 Uncertain 5_141533062_A->G 5 141533062 141533062 A G snp 4616.77 1/1 99 168 0 168 1.0 UTR3 rs449454 NDFIP1 AU 0.669728 0.6369 0.6326 0.6227 Uncertain 5_141533174_T->- 5 141533174 141533174 T - indel 479.73 1/1 48 22 0 22 1.0 UTR3 rs3833446 NDFIP1 AU 0.173722 0.3532 Uncertain 5_141533176_T->G 5 141533176 141533176 T G snp 121.77 0/1 99 22 15 7 0.32 UTR3 rs3747713 NDFIP1 AU 0.0457268 0.0863 Uncertain 5_141533177_T->G 5 141533177 141533177 T G snp 512.77 0/1 99 22 6 16 0.73 UTR3 rs201310766 NDFIP1 AU 0.173722 0.3532 Uncertain 5_141693593_C->T 5 141693593 141693593 C T snp 252.8 1/1 21 7 0 7 1.0 UTR3 rs10040443 SPRY4 AD 0.710863 0.9008 Uncertain 5_141975067_A->C 5 141975067 141975067 A C snp 1276.77 0/1 99 99 49 50 0.51 intronic rs34003 FGF1 AU NM_001257207 exon1 c.195+18A>C 0.56889 0.6121 0.536368 0.4951 0.6432 Uncertain 5_141993867_C->T 5 141993867 141993867 C T snp 114.77 0/1 99 8 4 4 0.5 intronic rs17223611 FGF1 AU NM_001257207 exon3 c.18872+141C>T 0.0373403 0.0962 Uncertain 5_142150202_G->A 5 142150202 142150202 G A snp 254.8 1/1 21 7 0 7 1.0 upstream rs2276993 ARHGAP26 AU 0.215855 0.1776 Uncertain 5_142254679_A->G 5 142254679 142254679 A G snp 1704.77 1/1 99 68 1 67 0.99 exonic rs185200 ARHGAP26 AU synonymous SNV NM_001135608 exon3 c.A255G p.R85R 0.673722 0.8581 0.462018 0.4468 0.8662 Uncertain 5_142259083_C->A 5 142259083 142259083 C A snp 1103.77 0/1 99 97 50 47 0.48 intronic rs27779 ARHGAP26 AU NM_001135608 exon4 c.108684+73C>A 0.611222 0.8194 Uncertain 5_142273947_A->G 5 142273947 142273947 A G snp 401.77 0/1 99 42 23 19 0.45 intronic rs37216 ARHGAP26 AU NM_001135608 exon6 c.123587+34A>G 0.132188 0.2708 0.058281 0.0584 0.2955 Uncertain 5_142287160_AGGGT->- 5 142287160 142287164 AGGGT - indel 739.73 0/1 99 21 10 11 0.52 intronic rs3217375 ARHGAP26 AU NM_001135608 exon9 c.136942-108_136942-104delAGGGT 0.592252 0.8631 Uncertain 5_142311442_A->G 5 142311442 142311442 A G snp 1084.77 1/1 81 36 0 36 1.0 intronic rs712176 ARHGAP26 AU NM_001135608 exon11 c.161285-169A>G 0.671126 0.8998 Uncertain 5_142311509_T->C 5 142311509 142311509 T C snp 3171.77 1/1 99 117 1 116 0.99 intronic rs712177 ARHGAP26 AU NM_001135608 exon11 c.161285-102T>C 0.659345 0.8988 Uncertain 5_142393562_G->A 5 142393562 142393562 G A snp 1370.77 0/1 99 127 68 59 0.46 intronic rs3822397 ARHGAP26 AU NM_001135608 exon12 c.243318-82G>A 0.611022 0.2778 Uncertain 5_142416741_T->C 5 142416741 142416741 T C snp 1150.77 0/1 99 101 51 50 0.5 intronic rs192194 ARHGAP26 AU NM_001135608 exon13 c.266434-19T>C 0.644768 0.3234 0.779486 0.7071 0.3485 Uncertain 5_142421415_T->G 5 142421415 142421415 T G snp 6442.77 1/1 99 250 0 250 1.0 exonic rs2270068 ARHGAP26 AU synonymous SNV NM_001135608 exon14 c.T1245G p.G415G 0.888179 0.505 0.998308 0.9619 0.5729 1.000 P -1.010 T Likely benign 5_142435388_G->A 5 142435388 142435388 G A snp 180.9 1/1 15 5 0 5 1.0 intronic rs2302100 ARHGAP26 AU NM_001135608 exon16 c.285266-204G>A 0.683906 0.9038 Uncertain 5_142435748_G->A 5 142435748 142435748 G A snp 817.77 1/1 60 24 0 24 1.0 intronic rs6580266 ARHGAP26 AU NM_001135608 exon16 c.285325+97G>A 0.682508 0.9038 Uncertain 5_142500828_C->T 5 142500828 142500828 C T snp 41.77 0/1 70 4 2 2 0.5 intronic rs10045199 ARHGAP26 AU NM_001135608 exon18 c.350386+116C>T 0.252196 0.1835 Uncertain 5_142513686_A->G 5 142513686 142513686 A G snp 1439.77 0/1 99 109 49 60 0.55 intronic rs246607 ARHGAP26 AU NM_001135608 exon19 c.363344+16A>G 0.502796 0.3591 0.582193 0.5453 0.3453 Uncertain 5_142586694_A->G 5 142586694 142586694 A G snp 260.8 1/1 21 8 0 8 1.0 intronic rs2074636 ARHGAP26 AU NM_001135608 exon21 c.436436-68A>G 0.370607 0.4792 Uncertain 5_142593652_C->T 5 142593652 142593652 C T snp 1184.77 1/1 90 38 0 38 1.0 exonic rs258819 ARHGAP26 AU synonymous SNV NM_001135608 exon22 c.C2190T p.N730N 0.996406 1 0.996231 0.9938 0.9998 1.0 P -1.011 T Likely benign 5_142595995_C->T 5 142595995 142595995 C T snp 71.77 0/1 99 11 8 3 0.27 intronic rs258821 ARHGAP26 AU NM_001135608 exon22 c.443327+2342C>T 0.261781 0.499 Uncertain 5_142596013_C->T 5 142596013 142596013 C T snp 227.84 1/1 18 8 0 8 1.0 intronic rs258822 ARHGAP26 AU NM_001135608 exon22 c.443327+2360C>T 0.453874 0.752 Uncertain 5_142601812_AC->- 5 142601812 142601813 AC - indel 329.73 0/1 99 17 5 12 0.71 intronic ARHGAP26 AU NM_001135608 exon23 c.451596-110_451596-109delAC Uncertain 5_142671092_-->TTACTTTTCTTTAGCCTAAG 5 142671092 142671092 - TTACTTTTCTTTAGCCTAAG indel 3974.73 0/1 99 59 39 20 0.34 intronic rs150299999 NR3C1 AD NM_000176 exon3 c.13571-3932insTTACTTTTCTTTAGCCTAAG 0.357029 0.2738 Uncertain 5_142693846_A->G 5 142693846 142693846 A G snp 156.77 0/1 99 9 4 5 0.56 intronic rs4986593 NR3C1 AD NM_000176 exon7 c.32280+113A>G 0.147165 0.1845 Uncertain 5_145144419_G->T 5 145144419 145144419 G T snp 2925.77 1/1 99 111 0 111 1.0 intronic rs338887 PRELID2 AU 0.773363 0.9464 Uncertain 5_145176221_C->T 5 145176221 145176221 C T snp 474.77 1/1 36 13 0 13 1.0 intronic rs338898 PRELID2 AU NM_205846 exon3 c.31607+111C>T 0.85603 0.9782 Uncertain 5_145197411_C->T 5 145197411 145197411 C T snp 3106.77 0/1 99 250 123 127 0.51 intronic rs6870210 PRELID2 AU NM_205846 exon4 c.52953-45C>T 0.424321 0.2798 0.538982 0.5789 0.2807 Uncertain 5_145198805_T->C 5 145198805 145198805 T C snp 1823.77 1/1 99 67 0 67 1.0 intronic rs624380 PRELID2 AU NM_182960 exon5 c.54438-136T>C 0.797524 0.5585 Uncertain 5_145199431_G->- 5 145199431 145199431 G - indel 3538.73 1/1 99 81 0 81 1.0 intronic rs11293460 PRELID2 AU NM_205846 exon5 c.55004-76delG 0.634585 0.495 Uncertain 5_145202461_C->T 5 145202461 145202461 C T snp 201.78 0/1 24 9 2 7 0.78 intronic rs6898776 PRELID2 AU NM_205846 exon6 c.58136-178C>T 0.418131 0.2798 Uncertain 5_145239119_G->C 5 145239119 145239119 G C snp 44.74 1/1 6 2 0 2 1.0 downstream rs432793 GRXCR2 AR 0.914736 0.9563 Uncertain 5_145246085_T->G 5 145246085 145246085 T G snp 2958.77 1/1 99 101 0 101 1.0 exonic rs2569006 GRXCR2 AR nonsynonymous SNV NM_001080516 exon2 c.A543C p.L181F 0.754393 0.7262 0.667538 0.6658 0.7470 1 T 0.0 P -0.985 T 0.0 T 0.0 T Pathogenic 5_145252574_C->T 5 145252574 145252574 C T snp 1502.77 1/1 99 45 0 45 1.0 upstream rs10037373 GRXCR2 AR 0.649161 0.7212 0.564047 0.6178 0.7388 Uncertain 5_145393364_C->T 5 145393364 145393364 C T snp 7231.77 1/1 99 250 0 250 1.0 exonic rs758037 SH3RF2 AU nonsynonymous SNV NM_152550 exon5 c.C799T p.R267C 0.609026 0.7212 0.551361 0.6182 0.7029 0.06 T 0.0 P -1.083 T 0.004 T 0.0 T Pathogenic 5_145439647_T->C 5 145439647 145439647 T C snp 5207.77 1/1 99 205 0 205 1.0 exonic rs2962525 SH3RF2 AU nonsynonymous SNV NM_152550 exon9 c.T1774C p.W592R 0.980831 1 0.981624 0.9951 1 0.78 T 0.0 P -0.994 T 0.0 T 0.0 T Pathogenic 5_145442133_G->A 5 145442133 145442133 G A snp 2525.77 0/1 99 239 131 108 0.45 exonic rs11435 SH3RF2 AU nonsynonymous SNV NM_152550 exon10 c.G2059A p.V687I 0.173922 0.3036 0.106412 0.1746 0.2665 0.69 T 0.0 P -0.943 T 0.001 T 0.001 T Pathogenic 5_145442203_G->C 5 145442203 145442203 G C snp 3921.77 1/1 99 140 0 140 1.0 exonic rs1056149 SH3RF2 AU nonsynonymous SNV NM_152550 exon10 c.G2129C p.G710A 0.630192 0.7212 0.572428 0.6263 0.6953 0.86 T 0.077 P -1.006 T 0.004 T 0.005 T Pathogenic 5_145515379_C->T 5 145515379 145515379 C T snp 54.74 1/1 6 2 0 2 1.0 intronic rs2963919 LARS AR NM_020117 exon11 c.21559+152C>T 0.713259 0.8006 Uncertain 5_145522912_A->G 5 145522912 145522912 A G snp 2956.77 1/1 99 103 0 103 1.0 intronic rs2962504 LARS AR NM_020117 exon14 c.29306-62A>G 0.984824 1 Uncertain 5_145834529_C->T 5 145834529 145834529 C T snp 742.77 1/1 54 26 0 26 1.0 intronic rs10044956 TCERG1 AU NM_001040006 exon2 c.7706-89C>T 0.365216 0.8403 Uncertain 5_145836662_A->T 5 145836662 145836662 A T snp 631.77 0/1 99 57 30 27 0.47 intronic rs2304055 TCERG1 AU NM_001040006 exon3 c.9833-83A>T 0.144968 0.506 Uncertain 5_145850328_T->C 5 145850328 145850328 T C snp 919.77 1/1 66 33 0 33 1.0 intronic rs12657671 TCERG1 AU NM_001040006 exon7 c.23399+17T>C 0.366414 0.8423 0.210057 0.2784 0.8579 Uncertain 5_145851164_T->- 5 145851164 145851164 T - indel 495.73 1/1 62 44 1 43 0.98 intronic rs141675712 TCERG1 AU NM_001040006 exon8 c.24227+25delT 0.438299 0.5833 0.4407 0.4973 Uncertain 5_145890028_A->G 5 145890028 145890028 A G snp 2486.77 1/1 99 89 0 89 1.0 exonic rs4705103 TCERG1 AU synonymous SNV NM_001040006 exon21 c.A3057G p.S1019S 0.980431 1 0.956559 0.9622 0.9998 Uncertain 5_145894896_G->C 5 145894896 145894896 G C snp 4974.77 1/1 99 179 0 179 1.0 exonic rs7709485 GPR151 AU nonsynonymous SNV NM_194251 exon1 c.C781G p.L261V 0.342053 0.7669 0.211672 0.2601 0.7770 0.58 T 0.0 P -0.988 T 0.002 T 0.011 T Pathogenic 5_146029906_C->T 5 146029906 146029906 C T snp 176.9 1/1 15 5 0 5 1.0 intronic rs6580434 PPP2R2B AD NM_181676 exon5 c.60600-203C>T 0.73103 0.8115 Uncertain 5_146030055_C->T 5 146030055 146030055 C T snp 3731.77 1/1 99 132 0 132 1.0 intronic rs6866598 PPP2R2B AD NM_181676 exon5 c.60600-54C>T 0.750599 0.8234 Uncertain 5_146070653_C->T 5 146070653 146070653 C T snp 257.77 0/1 99 23 12 11 0.48 intronic rs1530417 PPP2R2B AD NM_181676 exon6 c.101181-37C>T 0.0720847 0.2411 0.006228 0.0437 0.2508 Uncertain 5_146420228_C->T 5 146420228 146420228 C T snp 3919.77 1/1 99 161 1 160 0.99 intronic rs76134881 PPP2R2B AD NM_181677 exon9 c.445294+5425C>T 0.0415335 0.1647 Uncertain 5_146434146_C->T 5 146434146 146434146 C T snp 4071.77 1/1 99 154 0 154 1.0 intronic rs720305 PPP2R2B AD NM_181676 exon9 c.465718-1081C>T 0.381989 0.496 0.1910 0.5985 Uncertain 5_146619206_G->C 5 146619206 146619206 G C snp 1887.77 0/1 99 151 64 87 0.58 exonic rs4705132 STK32A AU synonymous SNV NM_001112724 exon2 c.G9C p.A3A 0.520367 0.3135 0.580189 0.5673 0.3595 Uncertain 5_146659014_T->G 5 146659014 146659014 T G snp 1012.77 0/1 99 80 39 41 0.51 intronic rs78417445 STK32A AU NM_001287740 exon4 c.39764+53T>G 0.0890575 0.0784 Uncertain 5_146703726_T->A 5 146703726 146703726 T A snp 639.77 1/1 48 18 0 18 1.0 intronic rs74909341 STK32A AU NM_001287740 exon5 c.84437+92T>A 0.0471246 0.1736 Uncertain 5_146722479_C->T 5 146722479 146722479 C T snp 2795.77 1/1 99 102 0 102 1.0 intronic rs10515581 STK32A AU NM_001287740 exon6 c.103371-89C>T 0.048123 0.1746 Uncertain 5_146722556_T->C 5 146722556 146722556 T C snp 4510.77 1/1 99 169 1 168 0.99 intronic rs17106492 STK32A AU NM_001287740 exon6 c.103371-12T>C 0.0473243 0.1746 0.000338 0.0243 0.2109 Uncertain 5_146722890_C->T 5 146722890 146722890 C T snp 468.77 1/1 36 13 0 13 1.0 intronic rs6884181 STK32A AU NM_001287740 exon6 c.103409+284C>T 0.336062 0.2579 Uncertain 5_146728149_C->G 5 146728149 146728149 C G snp 1966.77 1/1 99 65 0 65 1.0 intronic rs10072514 STK32A AU NM_145001 exon7 c.109060-108C>G 0.770966 0.5992 Uncertain 5_146728490_A->G 5 146728490 146728490 A G snp 429.77 1/1 33 11 0 11 1.0 intronic rs918797 STK32A AU NM_145001 exon7 c.109195+98A>G 0.270567 0.2609 Uncertain 5_146752967_C->T 5 146752967 146752967 C T snp 2184.77 1/1 99 75 0 75 1.0 intronic rs76424680 STK32A AU NM_001287740 exon10 c.133660+110C>T 0.0634984 0.1865 Uncertain 5_146753004_T->C 5 146753004 146753004 T C snp 1166.77 1/1 87 33 0 33 1.0 intronic rs4235731 STK32A AU NM_001287740 exon10 c.133660+147T>C 0.566294 0.8462 Uncertain 5_146754943_C->G 5 146754943 146754943 C G snp 56.74 1/1 6 2 0 2 1.0 intronic rs61405762 STK32A AU NM_001287740 exon11 c.135584+162C>G 0.118411 0.1865 Uncertain 5_146763089_C->G 5 146763089 146763089 C G snp 2776.77 1/1 99 101 0 101 1.0 intronic rs17106606 STK32A AU NM_001287740 exon12 c.143871+21C>G 0.048722 0.1855 0.000194 0.0317 0.2779 Uncertain 5_146763439_C->- 5 146763439 146763439 C - indel 607.73 1/1 57 19 0 19 1.0 intronic rs147337779 STK32A AU NM_001287740 exon13 c.144255-13delC 0.0210 0.1854 Uncertain 5_146763729_A->G 5 146763729 146763729 A G snp 1607.77 1/1 99 44 0 44 1.0 UTR3 rs17106607 STK32A AU 0.118211 0.1855 Uncertain 5_146763732_T->C 5 146763732 146763732 T C snp 1622.77 1/1 99 44 0 44 1.0 UTR3 rs75293173 STK32A AU 0.0628994 0.1855 Uncertain 5_146773682_G->A 5 146773682 146773682 G A snp 2562.77 1/1 99 101 1 100 0.99 exonic rs3792837 DPYSL3 AU synonymous SNV NM_001197294 exon14 c.C1971T p.T657T 0.0517173 0.1974 0.000508 0.0252 0.2079 1.0 P -1.051 T Likely benign 5_146773714_-->A 5 146773714 146773714 - A indel 912.73 1/1 35 60 3 57 0.95 intronic rs35959663 DPYSL3 AU NM_001387 exon1 c.89+28insA 0.096246 0.1796 0.0780 0.2538 Uncertain 5_146773805_C->T 5 146773805 146773805 C T snp 218.84 1/1 18 6 0 6 1.0 intronic rs12514302 DPYSL3 AU NM_001387 exon1 c.89+119C>T 0.0473243 0.1766 Uncertain 5_146775049_C->T 5 146775049 146775049 C T snp 994.77 1/1 75 33 0 33 1.0 intronic rs2288809 DPYSL3 AU NM_001387 exon2 c.1524-72C>T 0.0457268 0.1706 Uncertain 5_146775311_A->T 5 146775311 146775311 A T snp 2649.77 1/1 99 89 0 89 1.0 intronic rs2288808 DPYSL3 AU NM_001387 exon2 c.1687+27A>T 0.344649 0.5496 0.241326 0.2835 0.5477 Uncertain 5_146775377_G->C 5 146775377 146775377 G C snp 1360.77 1/1 99 48 0 48 1.0 intronic rs2288807 DPYSL3 AU NM_001387 exon2 c.1687+93G>C 0.545927 0.5496 Uncertain 5_146775475_T->G 5 146775475 146775475 T G snp 180.9 1/1 15 5 0 5 1.0 intronic rs2288806 DPYSL3 AU NM_001387 exon2 c.1687+191T>G 0.50619 0.5476 Uncertain 5_146777188_A->G 5 146777188 146777188 A G snp 3715.77 1/1 99 129 0 129 1.0 intronic rs2304045 DPYSL3 AU NM_001387 exon3 c.3631-40A>G 0.508387 0.5446 0.446593 0.4510 0.5468 Uncertain 5_146777447_-->TAGAAAGAG 5 146777447 146777447 - TAGAAAGAG indel 961.73 1/1 36 12 0 12 1.0 intronic rs74828553 DPYSL3 AU NM_001387 exon3 c.3811+39insTAGAAAGAG 0.508387 0.5437 0.434578 0.4427 0.5369 Uncertain 5_146798035_G->A 5 146798035 146798035 G A snp 2936.77 1/1 99 102 0 102 1.0 exonic rs17106709 DPYSL3 AU synonymous SNV NM_001197294 exon3 c.C630T p.A210A 0.0401358 0.1429 0.001045 0.0223 0.1694 Uncertain 5_146804366_C->T 5 146804366 146804366 C T snp 505.77 1/1 39 14 0 14 1.0 intronic rs2241696 DPYSL3 AU NM_001387 exon13 c.30840-71C>T 0.117812 0.131 Uncertain 5_146971253_C->T 5 146971253 146971253 C T snp 2772.77 1/1 99 100 0 100 1.0 splicing rs7449194 JAKMIP2 AU NM_014790 exon1 c.21+4C>T 0.904752 0.8552 0.943479 0.9721 0.8819 Pathogenic 5_146971279_A->G 5 146971279 146971279 A G snp 1302.77 0/1 99 71 20 51 0.72 ncRNA_intronic rs77301397 JAKMIP2-AS1 AU 0.153355 0.2073 0.096385 0.1698 0.2441 Uncertain 5_147003436_G->A 5 147003436 147003436 G A snp 298.77 0/1 99 20 10 10 0.5 ncRNA_intronic rs56384964 JAKMIP2-AS1 AU 0.152955 0.2063 Uncertain 5_147012186_C->T 5 147012186 147012186 C T snp 886.77 0/1 99 77 40 37 0.48 ncRNA_intronic rs3763093 JAKMIP2-AS1 AU 0.156749 0.2063 Uncertain 5_147012291_G->A 5 147012291 147012291 G A snp 2700.77 0/1 99 250 131 119 0.48 exonic rs3763094 JAKMIP2 AU synonymous SNV NM_001270934 exon12 c.C1665T p.D555D 0.157149 0.2073 0.100185 0.1597 0.2272 Uncertain 5_147016335_G->A 5 147016335 147016335 G A snp 70.77 0/1 65 5 2 3 0.6 ncRNA_intronic rs2116769 JAKMIP2-AS1 AU 0.313898 0.4732 Uncertain 5_147016368_C->T 5 147016368 147016368 C T snp 71.77 0/1 99 10 6 4 0.4 ncRNA_intronic rs2116768 JAKMIP2-AS1 AU 0.313898 0.4732 Uncertain 5_147019114_T->C 5 147019114 147019114 T C snp 1783.77 0/1 99 159 79 80 0.5 ncRNA_intronic rs10515588 JAKMIP2-AS1 AU 0.311701 0.4702 Uncertain 5_147019336_A->- 5 147019336 147019336 A - indel 709.73 0/1 99 74 42 32 0.43 ncRNA_intronic rs398084543 JAKMIP2-AS1 AU 0.2252 0.4958 Uncertain 5_147020419_T->C 5 147020419 147020419 T C snp 471.77 0/1 99 35 18 17 0.49 ncRNA_intronic rs1529686 JAKMIP2-AS1 AU 0.342252 0.5982 0.188759 0.2325 0.5837 Uncertain 5_147020443_C->T 5 147020443 147020443 C T snp 227.77 0/1 99 21 12 9 0.43 ncRNA_intronic rs1529685 JAKMIP2-AS1 AU 0.342252 0.5982 Uncertain 5_147021086_T->G 5 147021086 147021086 T G snp 774.77 0/1 99 46 19 27 0.59 ncRNA_intronic rs3765006 JAKMIP2-AS1 AU 0.342252 0.5982 Uncertain 5_147024476_C->A 5 147024476 147024476 C A snp 1766.77 0/1 99 209 127 82 0.39 exonic rs2116766 JAKMIP2 AU synonymous SNV NM_001282282 exon5 c.G894T p.L298L 0.168384 0.1356 0.3519 Uncertain 5_147024509_C->T 5 147024509 147024509 C T snp 1854.77 0/1 99 188 107 81 0.43 exonic rs2116765 JAKMIP2 AU synonymous SNV NM_001282282 exon5 c.G861A p.R287R 0.367812 0.4712 0.238275 0.2342 0.4805 Uncertain 5_147024608_G->A 5 147024608 147024608 G A snp 881.77 0/1 99 82 41 41 0.5 ncRNA_intronic rs2116764 JAKMIP2-AS1 AU 0.128994 0.2163 0.052053 0.0893 0.2402 Uncertain 5_147027930_A->G 5 147027930 147027930 A G snp 931.77 0/1 99 81 37 44 0.54 ncRNA_intronic rs7735403 JAKMIP2-AS1 AU 0.345847 0.4871 0.246654 0.2222 0.4571 Uncertain 5_147040101_-->AAAC 5 147040101 147040101 - AAAC indel 1797.73 0/1 99 66 29 37 0.56 ncRNA_exonic rs139209631 JAKMIP2-AS1 AU 0.338458 0.4871 0.2230 0.5 Uncertain 5_147040112_T->C 5 147040112 147040112 T C snp 675.77 0/1 99 60 29 31 0.52 ncRNA_exonic rs114468800 JAKMIP2-AS1 AU 0.13119 0.2173 0.1433 0.2865 Uncertain 5_147041185_G->A 5 147041185 147041185 G A snp 170.77 0/1 99 12 6 6 0.5 ncRNA_exonic rs9325048 JAKMIP2-AS1 AU 0.337859 0.4861 Uncertain 5_147258162_G->A 5 147258162 147258162 G A snp 185.77 0/1 95 10 3 7 0.7 upstream rs1368408 SCGB3A2 AD 0.23762 0.2153 ID=CR021402;DIS=Asthma, increased risk, association with;TAG=DFP;PUB=11813133 DFP Uncertain 5_147261610_G->A 5 147261610 147261610 G A snp 1614.77 0/1 99 155 82 73 0.47 exonic rs34212847 SCGB3A2 AD synonymous SNV NM_054023 exon3 c.G279A p.V93V 0.038738 0.0625 0.017453 0.0162 0.0794 Uncertain 5_147261812_T->C 5 147261812 147261812 T C snp 379.77 0/1 99 24 10 14 0.58 downstream rs3843496 SCGB3A2 AD 0.493411 0.6935 Uncertain 5_147281407_C->T 5 147281407 147281407 C T snp 575.77 0/1 99 57 34 23 0.4 intronic rs2278377 C5orf46 AU NM_206966 exon3 c.4781+71C>T 0.0145767 0.0704 Uncertain 5_147286013_A->T 5 147286013 147286013 A T snp 2250.77 0/1 99 204 105 99 0.49 exonic rs7722926 C5orf46 AU nonsynonymous SNV NM_206966 exon1 c.T52A p.F18I 0.294529 0.2232 0.276026 0.1622 0.2347 1 T 0.000 P -0.920 T 0.0 T 0.0 T Pathogenic 5_147286054_G->A 5 147286054 147286054 G A snp 2116.77 0/1 99 184 95 89 0.48 exonic rs2250145 C5orf46 AU nonsynonymous SNV NM_206966 exon1 c.C11T p.S4L 0.48103 0.619 0.463709 0.5600 0.6157 0.621 P -0.835 T 1.0 D 0.998 D Pathogenic 5_147444989_G->A 5 147444989 147444989 G A snp 1711.77 1/1 99 64 0 64 1.0 intronic rs9325061 SPINK5 AR,AD NM_006846 exon2 c.1328+54G>A 0.790735 0.9067 0.673094 Uncertain 5_147445023_C->G 5 147445023 147445023 C G snp 1302.77 1/1 93 52 0 52 1.0 intronic rs1609851 SPINK5 AR,AD NM_006846 exon2 c.1328+88C>G 0.790735 0.9067 0.674847 Uncertain 5_147445118_A->G 5 147445118 147445118 A G snp 67.77 0/1 96 8 4 4 0.5 intronic rs2161435 SPINK5 AR,AD NM_006846 exon2 c.1328+183A>G Uncertain 5_147445124_A->G 5 147445124 147445124 A G snp 85.77 0/1 55 7 3 4 0.57 intronic rs1007979 SPINK5 AR,AD NM_006846 exon2 c.1328+189A>G 0.790935 0.9077 Uncertain 5_147449855_A->G 5 147449855 147449855 A G snp 693.77 1/1 51 26 0 26 1.0 intronic rs1423001 SPINK5 AR,AD NM_006846 exon3 c.6278-30A>G 0.723303 0.7300 0.9241 Uncertain 5_147450028_C->T 5 147450028 147450028 C T snp 854.77 0/1 99 64 26 38 0.59 intronic rs3752677 SPINK5 AR,AD NM_006846 exon3 c.6406+15C>T 0.066893 0.1181 0.036740 0.0482 0.1285 Uncertain 5_147450085_C->A 5 147450085 147450085 C A snp 968.77 1/1 69 36 0 36 1.0 intronic rs3752676 SPINK5 AR,AD NM_006846 exon3 c.6406+72C>A 0.80611 0.9067 Uncertain 5_147451572_A->G 5 147451572 147451572 A G snp 401.77 0/1 99 28 12 16 0.57 intronic rs17718511 SPINK5 AR,AD NM_006846 exon4 c.8103-138A>G 0.0521166 0.1181 Uncertain 5_147466001_G->A 5 147466001 147466001 G A snp 1766.77 0/1 99 178 97 81 0.46 exonic rs17860502 SPINK5 AR,AD nonsynonymous SNV NM_006846 exon5 c.G316A p.D106N 0.0523163 0.119 0.023041 0.0442 0.1288 0.55 T 1.000 N -1.170 T 0.016 T 0.018 T CLINSIG=non-pathogenic;CLNDBN=not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000128215.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 ID=CM127007;DIS=Netherton syndrome;TAG=DM?;PUB=22837558 DM? Pathogenic 5_147468234_C->G 5 147468234 147468234 C G snp 641.77 0/1 99 72 44 28 0.39 intronic rs7711953 SPINK5 AR,AD NM_006846 exon6 c.24561+66C>G 0.460264 0.5079 0.449190 Uncertain 5_147468614_A->G 5 147468614 147468614 A G snp 1685.77 0/1 99 139 62 77 0.55 intronic rs10038561 SPINK5 AR,AD NM_006846 exon7 c.25449-442A>G 0.752596 0.7877 0.7426 0.8971 Uncertain 5_147468971_G->C 5 147468971 147468971 G C snp 1053.77 0/1 99 78 41 37 0.47 intronic rs4529181 SPINK5 AR,AD NM_006846 exon7 c.25449-85G>C Uncertain 5_147469018_A->G 5 147469018 147469018 A G snp 2650.77 0/1 99 202 88 114 0.56 intronic rs74538946 SPINK5 AR,AD NM_006846 exon7 c.25449-38A>G 0.052516 0.119 0.023237 0.0444 0.1288 Uncertain 5_147470679_A->T 5 147470679 147470679 A T snp 616.77 0/1 99 49 22 27 0.55 intronic rs60978485 SPINK5 AR,AD NM_006846 exon8 c.27120-48A>T 0.0523163 0.119 0.022659 0.0436 0.1265 Uncertain 5_147475386_A->G 5 147475386 147475386 A G snp 438.77 0/1 99 43 22 21 0.49 exonic rs6892205 SPINK5 AR,AD nonsynonymous SNV NM_006846 exon10 c.A800G p.Q267R 0.508986 0.4812 0.493448 0.5213 0.4866 0.68 T 0.0 P -0.968 T 0.0 T 0.001 T CLINSIG=non-pathogenic;CLNDBN=not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000128217.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Pathogenic 5_147475488_A->G 5 147475488 147475488 A G snp 297.77 0/1 99 31 18 13 0.42 intronic rs11958432 SPINK5 AR,AD NM_006846 exon10 c.31861+20A>G 0.452077 0.4802 0.448006 0.5097 0.4880 Uncertain 5_147475513_-->T 5 147475513 147475513 - T indel 417.73 0/1 99 26 14 12 0.46 intronic rs76839946 SPINK5 AR,AD NM_006846 exon10 c.31861+45insT 0.445435 0.4760 0.4559 Uncertain 5_147475590_G->A 5 147475590 147475590 G A snp 88.77 0/1 69 7 2 5 0.71 intronic rs11948406 SPINK5 AR,AD NM_006846 exon10 c.31861+122G>A 0.452077 0.4802 Uncertain 5_147475609_A->G 5 147475609 147475609 A G snp 104.28 1/1 9 5 0 5 1.0 intronic rs62388363 SPINK5 AR,AD NM_006846 exon10 c.31861+141A>G 0.452077 0.4802 Uncertain 5_147475627_G->A 5 147475627 147475627 G A snp 99.28 1/1 9 3 0 3 1.0 intronic rs62388364 SPINK5 AR,AD NM_006846 exon10 c.31861+159G>A Uncertain 5_147477551_C->T 5 147477551 147477551 C T snp 2288.77 0/1 99 243 142 101 0.42 exonic rs34482796 SPINK5 AR,AD nonsynonymous SNV NM_006846 exon11 c.C1004T p.A335V 0.446486 0.4802 0.440979 0.5070 0.4851 0.24 T 0.001 P -1.019 T 0.017 T 0.046 T CLINSIG=non-pathogenic;CLNDBN=not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000128218.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Pathogenic 5_147478654_-->T 5 147478654 147478654 - T indel 687.73 0/1 99 43 22 21 0.49 intronic rs11405253 SPINK5 AR,AD NM_006846 exon12 c.35189-142insT 0.354832 0.4276 Uncertain 5_147478785_C->T 5 147478785 147478785 C T snp 891.77 0/1 99 109 64 45 0.41 intronic rs1422991 SPINK5 AR,AD NM_006846 exon12 c.35189-11C>T 0.440096 0.4831 0.433594 0.5400 0.5117 Uncertain 5_147479991_C->T 5 147479991 147479991 C T snp 1135.77 0/1 99 143 90 53 0.37 intronic rs2303061 SPINK5 AR,AD NM_006846 exon13 c.36409-25C>T 0.432907 0.4861 0.430884 0.5039 0.4767 Uncertain 5_147480007_A->G 5 147480007 147480007 A G snp 1234.77 0/1 99 145 87 58 0.4 intronic rs2303062 SPINK5 AR,AD NM_006846 exon13 c.36409-9A>G 0.432907 0.4851 0.430723 0.5057 0.4805 Uncertain 5_147480027_G->A 5 147480027 147480027 G A snp 1317.77 0/1 99 142 81 61 0.43 exonic rs2303063 SPINK5 AR,AD nonsynonymous SNV NM_006846 exon13 c.G1103A p.S368N 0.43151 0.4831 0.428843 0.5057 0.4806 0.53 T 0.000 P -1.009 T 0.007 T 0.018 T ID=CM013814;DIS=Atopy, maternally inherited, association with;TAG=DP;PUB=11544479 DP Pathogenic 5_147480080_G->A 5 147480080 147480080 G A snp 1414.77 0/1 99 117 54 63 0.54 exonic rs2303064 SPINK5 AR,AD nonsynonymous SNV NM_006846 exon13 c.G1156A p.D386N 0.348243 0.4246 0.231709 0.2119 0.4451 0.3 T 0.000 P -0.967 T 0.734 T 0.258 P CLINSIG=non-pathogenic;CLNDBN=not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000128219.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Pathogenic 5_147480112_T->C 5 147480112 147480112 T C snp 884.77 0/1 99 81 40 41 0.51 exonic rs2303065 SPINK5 AR,AD synonymous SNV NM_006846 exon13 c.T1188C p.H396H 0.432907 0.4851 0.426716 0.5072 0.4827 CLINSIG=non-pathogenic;CLNDBN=not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000128220.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Uncertain 5_147480868_G->A 5 147480868 147480868 G A snp 219.77 0/1 99 16 8 8 0.5 intronic rs2303066 SPINK5 AR,AD NM_006846 exon14 c.37310-49G>A 0.432907 0.4851 0.431401 0.5041 0.4809 Uncertain 5_147480955_A->G 5 147480955 147480955 A G snp 915.77 0/1 99 82 43 39 0.48 exonic rs2303067 SPINK5 AR,AD nonsynonymous SNV NM_006846 exon14 c.A1258G p.K420E 0.433107 0.4851 0.433064 0.5079 0.4843 1 T 0.000 P -0.952 T 0.0 T 0.003 T CLINSIG=other|other|other;CLNDBN=Atopy\x2c_susceptibility_to|Dermatitis\x2c_atopic\x2c_6\x2c_susceptibility_to|Asthma\x2c_susceptibility_to;CLNREVSTAT=no_assertion_criteria_provided|no_assertion_criteria_provided|no_assertion_criteria_provided;CLNACC=RCV000005585.1|RCV000005586.1|RCV000005587.1;CLNDSDB=MedGen|.|MedGen:OMIM;CLNDSDBID=C1840254|.|C1869116:600807 ID=CM013815;DIS=Atopy, maternally inherited, association with;TAG=DFP;PUB=11544479 DFP Pathogenic 5_147481018_G->A 5 147481018 147481018 G A snp 1220.77 0/1 99 102 48 54 0.53 intronic rs2303068 SPINK5 AR,AD NM_006846 exon14 c.37392+19G>A 0.433107 0.4851 0.430604 0.5067 0.4839 Uncertain 5_147481085_A->C 5 147481085 147481085 A C snp 733.77 0/1 99 67 39 28 0.42 intronic rs2303069 SPINK5 AR,AD NM_006846 exon14 c.37392+86A>C 0.0497204 0.1141 Uncertain 5_147481430_A->G 5 147481430 147481430 A G snp 1803.77 0/1 99 140 64 76 0.54 exonic rs6896303 SPINK5 AR,AD synonymous SNV NM_006846 exon15 c.A1389G p.G463G 0.432907 0.4851 0.430616 0.5076 0.4841 Uncertain 5_147486677_C->A 5 147486677 147486677 C A snp 2767.77 0/1 99 214 93 121 0.57 exonic rs880687 SPINK5 AR,AD synonymous SNV NM_006846 exon17 c.C1557A p.G519G 0.429313 0.4841 0.421993 0.5061 0.4843 Uncertain 5_147486819_GT->- 5 147486819 147486820 GT - indel 1640.73 0/1 99 95 50 45 0.47 intronic rs3036740 SPINK5 AR,AD NM_006846 exon17 c.43120+92_43120+93delGT 0.429912 0.4861 Uncertain 5_147488367_C->T 5 147488367 147488367 C T snp 687.77 0/1 99 71 39 32 0.45 exonic rs2303071 SPINK5 AR,AD synonymous SNV NM_006846 exon18 c.C1659T p.V553V 0.602037 0.4851 0.595081 0.5527 0.4830 Uncertain 5_147491532_T->C 5 147491532 147491532 T C snp 221.77 0/1 99 17 9 8 0.47 intronic rs2287768 SPINK5 AR,AD NM_006846 exon19 c.47851+74T>C 0.192093 0.2887 Uncertain 5_147492461_T->C 5 147492461 147492461 T C snp 1122.77 0/1 99 100 51 49 0.49 exonic rs17718737 SPINK5 AR,AD synonymous SNV NM_006846 exon20 c.T1851C p.A617A 0.0539137 0.1141 0.026338 0.0448 0.1223 CLINSIG=non-pathogenic;CLNDBN=not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000128222.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Uncertain 5_147493834_-->C 5 147493834 147493834 - C indel 275.74 0/1 27 10 2 8 0.8 intronic rs377250653 SPINK5 AR,AD NM_006846 exon21 c.50317-90insC Uncertain 5_147493871_G->A 5 147493871 147493871 G A snp 1261.77 1/1 93 43 0 43 1.0 intronic rs3815735 SPINK5 AR,AD NM_006846 exon21 c.50317-53G>A 0.78734 0.9097 Uncertain 5_147493872_T->C 5 147493872 147493872 T C snp 467.77 0/1 99 43 23 20 0.47 intronic rs3815734 SPINK5 AR,AD NM_006846 exon21 c.50317-52T>C 0.0569089 0.1141 Uncertain 5_147494105_T->C 5 147494105 147494105 T C snp 1567.77 0/1 99 113 47 66 0.58 intronic rs1422986 SPINK5 AR,AD NM_006846 exon21 c.50445+53T>C 0.0646965 0.1141 Uncertain 5_147494159_A->C 5 147494159 147494159 A C snp 904.77 0/1 99 56 26 30 0.54 intronic rs1422985 SPINK5 AR,AD NM_006846 exon21 c.50445+107A>C 0.0497204 0.1141 Uncertain 5_147497871_T->C 5 147497871 147497871 T C snp 345.78 1/1 27 10 0 10 1.0 intronic rs6891892 SPINK5 AR,AD NM_006846 exon23 c.54392-128T>C 0.866813 0.9048 Uncertain 5_147497932_T->C 5 147497932 147497932 T C snp 876.77 0/1 99 62 28 34 0.55 intronic rs3777135 SPINK5 AR,AD NM_006846 exon23 c.54392-67T>C 0.489816 0.4841 Uncertain 5_147498019_G->A 5 147498019 147498019 G A snp 1569.77 0/1 99 140 69 71 0.51 exonic rs3777134 SPINK5 AR,AD nonsynonymous SNV NM_006846 exon23 c.G2132A p.R711Q 0.488419 0.4821 0.541757 0.5830 0.4685 0.5 T 0.0 P -1.085 T 0.556 P 0.103 P Pathogenic 5_147498523_T->C 5 147498523 147498523 T C snp 1267.77 0/1 99 94 47 47 0.5 intronic rs3764926 SPINK5 AR,AD NM_006846 exon24 c.54941-25T>C 0.508786 0.4792 0.560741 0.5892 0.4673 Uncertain 5_147498652_C->G 5 147498652 147498652 C G snp 5389.77 1/1 99 200 0 200 1.0 intronic rs9325073 SPINK5 AR,AD NM_006846 exon24 c.55014+31C>G 0.837859 0.9058 0.774594 0.8020 0.9225 Uncertain 5_147498669_G->A 5 147498669 147498669 G A snp 5141.77 1/1 99 189 0 189 1.0 intronic rs9325074 SPINK5 AR,AD NM_006846 exon24 c.55014+48G>A 0.837859 0.9058 0.772861 0.8005 0.9220 Uncertain 5_147498672_G->A 5 147498672 147498672 G A snp 2355.77 0/1 99 186 93 93 0.5 intronic rs12518996 SPINK5 AR,AD NM_006846 exon24 c.55014+51G>A 0.488419 0.4821 0.532131 0.5817 0.4698 Uncertain 5_147498763_C->A 5 147498763 147498763 C A snp 2290.77 1/1 99 69 0 69 1.0 intronic rs9325075 SPINK5 AR,AD NM_006846 exon24 c.55014+142C>A 0.83766 0.9058 Uncertain 5_147498849_C->T 5 147498849 147498849 C T snp 205.84 1/1 18 6 0 6 1.0 intronic rs6872326 SPINK5 AR,AD NM_006846 exon24 c.55014+228C>T 0.837859 0.9058 Uncertain 5_147499616_C->T 5 147499616 147499616 C T snp 1634.77 0/1 99 162 87 75 0.46 exonic rs17704908 SPINK5 AR,AD synonymous SNV NM_006846 exon25 c.C2358T p.L786L 0.48742 0.4821 0.540145 0.5829 0.4659 Uncertain 5_147499670_C->T 5 147499670 147499670 C T snp 1956.77 0/1 99 195 108 87 0.45 exonic rs33920397 SPINK5 AR,AD synonymous SNV NM_006846 exon25 c.C2412T p.G804G 0.488419 0.4821 0.539789 0.5825 0.4669 Uncertain 5_147503528_G->A 5 147503528 147503528 G A snp 1413.77 0/1 99 124 63 61 0.49 splicing rs185897034 SPINK5 AR,AD NM_006846 exon27 c.59916+5G>A 0.000399361 0.0002 0 Pathogenic 5_147504305_-->T 5 147504305 147504305 - T indel 269.73 1/1 39 15 0 15 1.0 intronic rs398109528 SPINK5 AR,AD NM_006846 exon28 c.60720-22insT 0.483826 0.4812 0.6022 0.5586 Uncertain 5_147504315_A->T 5 147504315 147504315 A T snp 518.77 1/1 39 15 0 15 1.0 intronic rs2052537 SPINK5 AR,AD NM_006846 exon28 c.60720-12A>T 0.829273 0.9067 0.708584 0.8085 0.9207 CLINSIG=non-pathogenic;CLNDBN=not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000128224.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Uncertain 5_147504539_G->C 5 147504539 147504539 G C snp 34.77 0/1 63 7 5 2 0.29 intronic rs2303075 SPINK5 AR,AD NM_001127699 exon28 c.60896+36G>C 0.320088 0.4246 Uncertain 5_147504541_A->T 5 147504541 147504541 A T snp 37.77 0/1 66 6 4 2 0.33 intronic rs2303074 SPINK5 AR,AD NM_001127699 exon28 c.60896+38A>T 0.320088 0.4246 Uncertain 5_147505116_G->A 5 147505116 147505116 G A snp 1013.77 0/1 99 110 67 43 0.39 intronic rs3764930 SPINK5 AR,AD NM_001127698 exon29 c.61479+30G>A 0.453275 0.4821 0.506505 0.5748 0.4711 Uncertain 5_147505227_G->A 5 147505227 147505227 G A snp 2186.77 0/1 99 186 95 91 0.49 intronic rs2112767 SPINK5 AR,AD NM_001127698 exon29 c.61569+51G>A 0.509585 0.4831 0.558695 Uncertain 5_147510776_T->C 5 147510776 147510776 T C snp 1307.77 0/1 99 101 50 51 0.5 intronic rs6895434 SPINK5 AR,AD NM_006846 exon31 c.67214-45T>C 0.509185 0.4821 0.559532 0.5888 0.4682 Uncertain 5_147510866_T->C 5 147510866 147510866 T C snp 2982.77 0/1 99 250 130 120 0.48 exonic rs2400478 SPINK5 AR,AD synonymous SNV NM_006846 exon31 c.T3009C p.G1003G 0.509185 0.4821 0.560267 0.5888 0.4692 Uncertain 5_147516470_C->T 5 147516470 147516470 C T snp 732.77 0/1 99 108 77 31 0.29 intronic rs4334874 SPINK5 AR,AD NM_006846 exon33 c.72938-75C>T 0.491014 0.5188 0.441086 Uncertain 5_147516598_T->C 5 147516598 147516598 T C snp 1796.77 0/1 99 194 112 82 0.42 UTR3 rs4349706 SPINK5 AR,AD 0.491014 0.5188 0.441470 0.4117 0.5316 Uncertain 5_147516762_C->G 5 147516762 147516762 C G snp 243.77 0/1 99 21 12 9 0.43 UTR3 rs3088193 SPINK5 AR,AD 0.491014 0.5188 Uncertain 5_147549163_T->C 5 147549163 147549163 T C snp 1470.77 0/1 99 115 58 57 0.5 upstream rs4269285 SPINK14 AU 0.570288 0.3998 Uncertain 5_147554889_A->C 5 147554889 147554889 A C snp 349.77 0/1 99 23 8 15 0.65 intronic rs10052031 SPINK14 AU NM_001001325 exon4 c.5620-26A>C 0.522963 0.3998 0.573749 0.5815 0.4784 Uncertain 5_147554998_TTTTTCC->- 5 147554998 147555004 TTTTTCC - indel 3607.73 0/1 99 74 35 39 0.53 downstream rs147123556 SPINK14 AU 0.518371 0.3988 0.555413 0.5259 0.4128 Uncertain 5_147555029_C->T 5 147555029 147555029 C T snp 760.77 0/1 99 75 39 36 0.48 downstream rs10074328 SPINK14 AU 0.523962 0.3998 Uncertain 5_147585805_C->T 5 147585805 147585805 C T snp 59.77 0/1 88 16 13 3 0.19 intronic rs761393806 SPINK6 AU NM_001195290 exon3 c.2962+184C>T Uncertain 5_147593497_C->A 5 147593497 147593497 C A snp 2256.77 0/1 99 221 123 98 0.44 exonic rs12186491 SPINK6 AU nonsynonymous SNV NM_205841 exon3 c.C106A p.P36T 0.679313 0.6954 0.740427 0.8441 0.7007 0.04 T 0.956 P -0.934 T 1.0 D 0.999 D Pathogenic 5_147594385_G->A 5 147594385 147594385 G A snp 104.77 0/1 99 10 6 4 0.4 intronic rs77880669 SPINK6 AU NM_001195290 exon5 c.11808-82G>A 0.0261581 0.1121 Uncertain 5_147693826_G->A 5 147693826 147693826 G A snp 398.77 0/1 99 53 31 22 0.42 ncRNA_intronic rs3749690 LOC102546294 AU 0.370008 0.4236 0.332769 0.2954 0.4229 Uncertain 5_147695283_-->TCA 5 147695283 147695283 - TCA indel 2268.73 0/1 99 103 50 53 0.51 ncRNA_intronic rs3217238 LOC102546294 AU 0.340789 0.2945 0.4188 Uncertain 5_147703416_C->T 5 147703416 147703416 C T snp 1869.77 0/1 99 162 81 81 0.5 ncRNA_intronic rs1422969 LOC102546294 AU 0.377995 0.4236 0.2596 0.4091 0.06 T 0.0 P -0.934 T Uncertain 5_147715820_G->T 5 147715820 147715820 G T snp 157.77 0/1 99 12 5 7 0.58 ncRNA_intronic rs6894032 LOC102546294 AU 0.410942 0.4236 Uncertain 5_147795698_T->- 5 147795698 147795698 T - indel 132.73 0/1 99 37 9 28 0.76 intronic rs780129563 FBXO38 AD NM_030793 exon11 c.21294+65delT Uncertain 5_147796533_G->C 5 147796533 147796533 G C snp 1407.77 0/1 99 100 46 54 0.54 intronic rs58313354 FBXO38 AD NM_030793 exon12 c.22217-23G>C 0.134784 0.248 0.063509 0.0694 0.2479 Uncertain 5_147803557_G->T 5 147803557 147803557 G T snp 863.77 0/1 99 93 53 40 0.43 splicing rs11168047 FBXO38 AD NM_030793 exon13 c.29221-3G>T 0.504193 0.5962 0.412963 0.3681 0.5777 Pathogenic 5_147812901_T->G 5 147812901 147812901 T G snp 1079.77 0/1 99 100 56 44 0.44 intronic rs6861078 FBXO38 AD NM_030793 exon16 c.38647-85T>G 0.505591 0.5982 Uncertain 5_147819366_T->C 5 147819366 147819366 T C snp 1238.77 0/1 99 102 50 52 0.51 intronic rs10051223 FBXO38 AD NM_030793 exon19 c.45016+11T>C 0.504593 0.5982 0.411964 0.3652 0.5806 Uncertain 5_147820207_G->A 5 147820207 147820207 G A snp 143.77 0/1 99 11 6 5 0.45 intronic rs3734121 FBXO38 AD NM_030793 exon20 c.45751+117G>A 0.504593 0.5982 Uncertain 5_147856232_T->C 5 147856232 147856232 T C snp 432.77 1/1 33 12 0 12 1.0 UTR3 rs6580550 HTR4 AU 0.585264 0.7421 0.508322 Uncertain 5_147856257_-->A 5 147856257 147856257 - A indel 666.73 1/1 72 24 0 24 1.0 UTR3 rs11411672 HTR4 AU 0.435304 0.6429 0.4255 0.6076 Uncertain 5_147856333_G->A 5 147856333 147856333 G A snp 2223.77 1/1 99 83 0 83 1.0 intronic rs7733088 HTR4 AU NM_001040172 exon1 c.7+25G>A 0.433906 0.6359 0.367247 0.4278 0.6093 Uncertain 5_147856392_A->G 5 147856392 147856392 A G snp 3285.77 1/1 99 129 0 129 1.0 intronic rs7715901 HTR4 AU NM_001040172 exon1 c.7+84A>G 0.434505 0.6359 0.371222 Uncertain 5_147856522_G->A 5 147856522 147856522 G A snp 277.77 0/1 99 27 16 11 0.41 intronic rs7733410 HTR4 AU NM_001040172 exon1 c.7+214G>A 0.454673 0.7113 Uncertain 5_147902972_G->A 5 147902972 147902972 G A snp 369.77 1/1 30 10 0 10 1.0 intronic rs2277050 HTR4 AU NM_199453 exon4 c.57482+63G>A 0.207867 0.2173 Uncertain 5_147928130_T->C 5 147928130 147928130 T C snp 516.77 1/1 39 13 0 13 1.0 intronic rs13171326 HTR4 AU NM_199453 exon5 c.82803-100T>C 0.199281 0.2173 Uncertain 5_148042230_G->T 5 148042230 148042230 G T snp 1559.77 0/1 99 138 65 73 0.53 intergenic rs7720668 HTR4 AU 0.213858 0.3919 0.2401 0.3864 Uncertain 5_148045282_C->T 5 148045282 148045282 C T snp 74.77 0/1 99 11 8 3 0.27 intergenic rs1820076 HTR4 AU 0.416933 0.5615 Uncertain 5_148206348_C->T 5 148206348 148206348 C T snp 379.77 1/1 30 10 0 10 1.0 UTR5 rs1042711 ADRB2 AU,AD,AO,AR 0.793131 0.9196 0.655640 0.6812 0.9071 ID=CR993026;DIS=Obesity and diabetes type 2, association with;TAG=DP;PUB=10323412 DP Uncertain 5_148206375_C->T 5 148206375 148206375 C T snp 810.77 1/1 60 25 0 25 1.0 UTR5 rs1801704 ADRB2 AU,AD,AO,AR 0.793131 0.9196 0.659797 0.6821 0.9082 ID=CR993027;DIS=Obesity and diabetes type 2, association with;TAG=DP;PUB=10323412 DP Uncertain 5_148206440_G->A 5 148206440 148206440 G A snp 1072.77 0/1 99 90 45 45 0.5 exonic rs1042713 ADRB2 AU,AD,AO,AR nonsynonymous SNV NM_000024 exon1 c.G46A p.G16R 0.475639 0.5486 0.414885 0.4204 0.5480 0.46 T 0.0 P -0.920 T 0.043 T 0.032 T CLINSIG=other|other;CLNDBN=Asthma\x2c_nocturnal\x2c_susceptibility_to|Metabolic_syndrome\x2c_susceptibility_to;CLNREVSTAT=no_assertion_criteria_provided|no_assertion_criteria_provided;CLNACC=RCV000019316.1|RCV000019317.1;CLNDSDB=.|.;CLNDSDBID=.|. ID=CM950016;DIS=Asthma, nocturnal, association with;TAG=DFP;PUB=7706471 DFP Pathogenic 5_148206473_G->C 5 148206473 148206473 G C snp 3463.77 1/1 99 126 0 126 1.0 exonic rs1042714 ADRB2 AU,AD,AO,AR nonsynonymous SNV NM_000024 exon1 c.G79C p.E27Q 0.795727 0.9266 0.660003 0.6834 0.9103 0.45 T 0.0 P -1.012 T 0.009 T 0.009 T CLINSIG=other|other|other;CLNDBN=Asthma\x2c_childhood\x2c_susceptibility_to|Metabolic_syndrome\x2c_susceptibility_to|Obesity;CLNREVSTAT=no_assertion_criteria_provided|no_assertion_criteria_provided|no_assertion_criteria_provided;CLNACC=RCV000019318.1|RCV000019319.1|RCV000033191.1;CLNDSDB=.|.|MedGen:OMIM:Orphanet:SNOMED_CT;CLNDSDBID=.|.|C0028754:601665:ORPHA71529:414916001 ID=CM970061;DIS=Obesity, association with;TAG=DFP;PUB=9399946 DFP Pathogenic 5_148206646_G->A 5 148206646 148206646 G A snp 1440.77 0/1 99 105 50 55 0.52 exonic rs1042717 ADRB2 AU,AD,AO,AR synonymous SNV NM_000024 exon1 c.G252A p.L84L 0.314696 0.3641 0.241735 0.2574 0.3489 Uncertain 5_148206917_C->A 5 148206917 148206917 C A snp 2402.77 0/1 99 228 125 103 0.45 exonic rs1042718 ADRB2 AU,AD,AO,AR synonymous SNV NM_000024 exon1 c.C523A p.R175R 0.297724 0.369 0.221513 0.2326 0.3513 Uncertain 5_148207447_G->C 5 148207447 148207447 G C snp 1017.77 0/1 99 85 48 37 0.44 exonic rs1042719 ADRB2 AU,AD,AO,AR synonymous SNV NM_000024 exon1 c.G1053C p.G351G 0.374201 0.4772 0.309242 0.3379 0.4570 Uncertain 5_148207633_G->A 5 148207633 148207633 G A snp 3886.77 1/1 99 149 0 149 1.0 exonic rs1042720 ADRB2 AU,AD,AO,AR synonymous SNV NM_000024 exon1 c.G1239A p.L413L 0.508786 0.6429 0.397801 0.3982 0.6220 Uncertain 5_148207667_-->CG 5 148207667 148207667 - CG indel 3290.73 ./1 99 83 0 83 1.0 UTR3 rs141761380 ADRB2 AU,AD,AO,AR 0.582069 0.7252 0.3121 0.4457 Uncertain 5_148207667_-->CCG 5 148207667 148207667 - CCG indel 3290.73 ./1 99 83 0 83 1.0 UTR3 rs141761380 ADRB2 AU,AD,AO,AR 0.0530 0.1530 Uncertain 5_148383345_C->G 5 148383345 148383345 C G snp 238.77 0/1 84 14 4 10 0.71 UTR3 rs1432798 SH3TC2 AR,AD 0.3127 0.1429 0.2919 0.1838 Uncertain 5_148384235_T->G 5 148384235 148384235 T G snp 161.77 0/1 57 8 3 5 0.63 UTR3 rs76579569 SH3TC2 AR,AD 0.0145767 0.0694 0.0045 0.0545 Uncertain 5_148386525_T->C 5 148386525 148386525 T C snp 1112.77 0/1 99 87 44 43 0.49 exonic rs6871030 SH3TC2 AR,AD synonymous SNV NM_024577 exon16 c.A3594G p.P1198P 0.146366 0.124 0.0786 0.0982 CLINSIG=non-pathogenic,probable-non-pathogenic;CLNDBN=not_provided,not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter,no_assertion_criteria_provided;CLNACC=RCV000128035.1,RCV000118337.2;CLNDSDB=MedGen,MedGen;CLNDSDBID=CN221809,CN169374 Uncertain 5_148406973_G->A 5 148406973 148406973 G A snp 1731.77 0/1 99 165 85 80 0.48 exonic rs17795193 SH3TC2 AR,AD synonymous SNV NM_024577 exon11 c.C2322T p.D774D 0.0145767 0.0694 0.000077 0.0041 0.0505 Uncertain 5_148407708_A->C 5 148407708 148407708 A C snp 2552.77 1/1 99 83 0 83 1.0 exonic rs1432794 SH3TC2 AR,AD synonymous SNV NM_024577 exon11 c.T1587G p.R529R 0.990615 0.999 0.977703 0.9785 0.9998 Uncertain 5_148407945_C->T 5 148407945 148407945 C T snp 2524.77 0/1 99 195 86 109 0.56 exonic rs17722227 SH3TC2 AR,AD synonymous SNV NM_024577 exon11 c.G1350A p.P450P 0.0642971 0.12 0.006151 0.0460 0.0946 CLINSIG=non-pathogenic;CLNDBN=not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000128034.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Uncertain 5_148422274_C->T 5 148422274 148422274 C T snp 1618.77 0/1 99 130 60 70 0.54 exonic rs17722293 SH3TC2 AR,AD nonsynonymous SNV NM_024577 exon5 c.G512A p.G171E 0.071885 0.131 0.011994 0.0522 0.1003 0.05 T 0.748 P -1.056 T 0.933 T 0.357 D CLINSIG=probable-non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=no_assertion_criteria_provided|criteria_provided\x2c_single_submitter;CLNACC=RCV000118338.2|RCV000128033.1;CLNDSDB=MedGen|MedGen;CLNDSDBID=CN169374|CN221809 Pathogenic 5_148425518_A->T 5 148425518 148425518 A T snp 1249.77 0/1 99 131 76 55 0.42 intronic rs250676 SH3TC2 AR,AD NM_024577 exon14 c.39928+1317A>T 0.29353 0.1974 0.2973 0.2308 Uncertain 5_148442295_G->A 5 148442295 148442295 G A snp 192.77 0/1 63 9 3 6 0.67 intronic rs40522 SH3TC2 AR,AD NM_024577 exon17 c.58260-238G>A 0.28754 0.1974 Uncertain 5_148521799_T->C 5 148521799 148521799 T C snp 176.9 1/1 15 5 0 5 1.0 intronic rs11744532 ABLIM3 AU NM_001301015 exon1 c.13+128T>C 0.773562 0.9058 Uncertain 5_148562829_G->A 5 148562829 148562829 G A snp 104.77 0/1 99 10 6 4 0.4 intronic rs6886115 ABLIM3 AU NM_001301015 exon2 c.41356-185G>A 0.333267 0.5228 Uncertain 5_148562836_C->T 5 148562836 148562836 C T snp 225.77 0/1 99 15 7 8 0.53 intronic rs76697917 ABLIM3 AU NM_001301015 exon2 c.41356-178C>T 0.104233 0.1498 Uncertain 5_148562890_G->A 5 148562890 148562890 G A snp 1133.77 0/1 99 68 32 36 0.53 intronic rs6886262 ABLIM3 AU NM_001301015 exon2 c.41356-124G>A 0.373203 0.5228 Uncertain 5_148562981_C->A 5 148562981 148562981 C A snp 2440.77 0/1 99 203 92 111 0.55 intronic rs6887628 ABLIM3 AU NM_001301015 exon2 c.41356-33C>A 0.342452 0.5208 0.306551 0.3407 0.5085 Uncertain 5_148578566_C->T 5 148578566 148578566 C T snp 1084.77 0/1 99 69 30 39 0.57 intronic rs2068262 ABLIM3 AU NM_001301027 exon4 c.15550-40C>T 0.647963 0.4712 0.6715 0.4628 Uncertain 5_148580025_G->A 5 148580025 148580025 G A snp 574.77 0/1 99 58 36 22 0.38 intronic rs6580602 ABLIM3 AU NM_001301015 exon4 c.58333+34G>A 0.646965 0.4712 0.682224 0.6544 0.4783 Uncertain 5_148586451_-->G 5 148586451 148586451 - G indel 1019.73 1/1 78 26 0 26 1.0 intronic rs397793629 ABLIM3 AU NM_001301015 exon5 c.64912-119insG Uncertain 5_148590423_T->C 5 148590423 148590423 T C snp 2164.77 1/1 99 79 0 79 1.0 intronic rs2918281 ABLIM3 AU NM_001301015 exon6 c.68724+41T>C 0.498403 0.6587 0.438182 0.4162 0.6665 Uncertain 5_148596694_G->- 5 148596694 148596694 G - indel 1735.73 0/1 99 121 66 55 0.45 intronic rs3839234 ABLIM3 AU NM_001301015 exon7 c.74951+85delG 0.409944 0.5962 Uncertain 5_148596841_G->A 5 148596841 148596841 G A snp 164.78 0/1 24 6 1 5 0.83 intronic rs2918278 ABLIM3 AU NM_001301015 exon7 c.74951+232G>A 0.49361 0.5972 Uncertain 5_148610122_G->T 5 148610122 148610122 G T snp 262.77 0/1 99 19 9 10 0.53 intronic rs17722862 ABLIM3 AU NM_001301015 exon8 c.88553-89G>T 0.0191693 0.0456 Uncertain 5_148610276_C->A 5 148610276 148610276 C A snp 1490.77 0/1 99 127 60 67 0.53 splicing rs2918265 ABLIM3 AU NM_001301015 exon8 c.88612+6C>A 0.442891 0.5942 0.445179 0.4387 0.6079 Pathogenic 5_148618708_A->G 5 148618708 148618708 A G snp 1036.77 1/1 75 37 0 37 1.0 intronic rs58203769 ABLIM3 AU NM_001301015 exon11 c.97152-102A>G 0.438498 0.6399 Uncertain 5_148618749_C->T 5 148618749 148618749 C T snp 728.77 0/1 99 75 42 33 0.44 intronic rs59032271 ABLIM3 AU NM_001301015 exon11 c.97152-61C>T 0.41893 0.5942 0.421156 Uncertain 5_148618752_G->A 5 148618752 148618752 G A snp 803.77 0/1 99 78 45 33 0.42 intronic rs59757169 ABLIM3 AU NM_001301015 exon11 c.97152-58G>A 0.41893 0.5942 0.421375 Uncertain 5_148618964_G->A 5 148618964 148618964 G A snp 693.77 0/1 99 52 27 25 0.48 intronic rs34180939 ABLIM3 AU NM_001301015 exon11 c.97182+124G>A 0.41893 0.5942 Uncertain 5_148618979_G->A 5 148618979 148618979 G A snp 551.77 0/1 99 35 14 21 0.6 intronic rs75890852 ABLIM3 AU NM_001301015 exon11 c.97182+139G>A 0.0457268 0.0456 Uncertain 5_148619190_G->- 5 148619190 148619190 G - indel 718.73 0/1 99 37 13 24 0.65 intronic rs11326264 ABLIM3 AU NM_001301015 exon12 c.97663-131delG 0.41893 0.5942 Uncertain 5_148620224_T->G 5 148620224 148620224 T G snp 5291.77 1/1 99 197 0 197 1.0 intronic rs3797315 ABLIM3 AU NM_001301015 exon13 c.98580-14T>G 0.464856 0.6399 0.447486 0.4464 0.6415 Uncertain 5_148620348_C->T 5 148620348 148620348 C T snp 1960.77 0/1 99 166 87 79 0.48 intronic rs77050679 ABLIM3 AU NM_001301015 exon13 c.98679+11C>T 0.0455272 0.0456 0.034753 0.0241 0.0334 Uncertain 5_148625973_A->- 5 148625973 148625973 A - indel 591.73 0/1 99 49 22 27 0.55 intronic rs34340554 ABLIM3 AU NM_001301015 exon16 c.104386-71delA 0.479233 0.5724 Uncertain 5_148627252_G->A 5 148627252 148627252 G A snp 2694.77 1/1 99 98 0 98 1.0 intronic rs9325136 ABLIM3 AU NM_001301015 exon17 c.105686-92G>A 0.527756 0.6171 0.5413 0.6514 Uncertain 5_148627503_C->T 5 148627503 148627503 C T snp 645.77 0/1 99 39 17 22 0.56 intronic rs2304609 ABLIM3 AU NM_001301015 exon17 c.105834+11C>T 0.352436 0.5734 0.368753 0.4279 0.5771 Uncertain 5_148630191_C->A 5 148630191 148630191 C A snp 469.77 1/1 36 19 0 19 1.0 intronic rs1808828 ABLIM3 AU NM_001301015 exon19 c.108410+123C>A 0.444888 0.6131 Uncertain 5_148632503_A->G 5 148632503 148632503 A G snp 1540.77 0/1 99 95 36 59 0.62 intronic rs9765312 ABLIM3 AU NM_001301015 exon22 c.110742+103A>G 0.0601038 0.0456 Uncertain 5_148632600_C->T 5 148632600 148632600 C T snp 332.77 0/1 99 15 4 11 0.73 intronic rs3733842 ABLIM3 AU NM_001301015 exon22 c.110742+200C>T 0.0599042 0.0446 Uncertain 5_148639062_C->T 5 148639062 148639062 C T snp 714.77 0/1 99 58 28 30 0.52 UTR3 rs1438688 ABLIM3 AU 0.336262 0.5685 0.3710 0.5657 Uncertain 5_148651395_A->T 5 148651395 148651395 A T snp 96.28 1/1 9 3 0 3 1.0 upstream rs62378114 AFAP1L1 AU 0.379193 0.6052 Uncertain 5_148651711_T->C 5 148651711 148651711 T C snp 1125.77 1/1 81 40 0 40 1.0 intronic rs12054749 AFAP1L1 AU NM_152406 exon1 c.16+164T>C 0.628395 0.7728 Uncertain 5_148679301_C->G 5 148679301 148679301 C G snp 4635.77 1/1 99 172 0 172 1.0 intronic rs171286 AFAP1L1 AU NM_152406 exon2 c.27669+101C>G 0.764177 0.8313 Uncertain 5_148679421_C->T 5 148679421 148679421 C T snp 212.84 1/1 18 6 0 6 1.0 intronic rs813036 AFAP1L1 AU NM_152406 exon2 c.27669+221C>T 0.764976 0.8304 Uncertain 5_148682188_G->C 5 148682188 148682188 G C snp 2029.77 1/1 99 73 0 73 1.0 intronic rs352341 AFAP1L1 AU NM_152406 exon5 c.30558+99G>C 0.808107 0.8313 Uncertain 5_148712150_G->A 5 148712150 148712150 G A snp 637.77 1/1 48 19 0 19 1.0 intronic rs2270682 AFAP1L1 AU NM_152406 exon17 c.60726-107G>A 0.320687 0.1558 Uncertain 5_148725199_A->G 5 148725199 148725199 A G snp 1333.77 1/1 96 43 0 43 1.0 intronic rs352347 GRPEL2 AU NM_152407 exon1 c.77+20A>G 0.490815 0.3115 0.556636 0.5045 0.3857 Uncertain 5_148725225_-->C 5 148725225 148725225 - C indel 1175.73 1/1 87 31 0 31 1.0 intronic rs3842046 GRPEL2 AU NM_152407 exon1 c.77+46insC 0.275359 0.1577 0.294605 0.2878 0.1682 Uncertain 5_148728164_G->C 5 148728164 148728164 G C snp 56.74 1/1 6 2 0 2 1.0 intronic rs783779 GRPEL2 AU NM_152407 exon2 c.2886+176G>C 0.489417 0.3085 Uncertain 5_148737644_G->C 5 148737644 148737644 G C snp 151.03 1/1 12 8 0 8 1.0 exonic rs2291814 PCYOX1L AU nonsynonymous SNV NM_024028 exon1 c.G13C p.A5P 0.3979 0.1852 0.05 T 0.000 P -0.911 T 0.38 T 0.137 T Pathogenic 5_148742693_A->G 5 148742693 148742693 A G snp 432.77 1/1 33 13 0 13 1.0 intronic rs1693917 PCYOX1L AU NM_024028 exon2 c.4775+287A>G 0.481629 0.3125 Uncertain 5_148747393_T->A 5 148747393 148747393 T A snp 185.9 1/1 15 6 0 6 1.0 intronic rs353256 PCYOX1L AU NM_024028 exon6 c.9924-162T>A 0.988419 1 Uncertain 5_148758792_G->A 5 148758792 148758792 G A snp 1243.77 0/1 99 133 77 56 0.42 UTR5 rs193133674 IL17B AU 0.000199681 0.001 0.000077 1.665e-05 0 Uncertain 5_148808390_G->A 5 148808390 148808390 G A snp 102.77 0/1 99 11 7 4 0.36 ncRNA_intronic rs41291957 MIR143HG AU 0.121406 0.3254 Uncertain 5_148886523_T->C 5 148886523 148886523 T C snp 418.77 0/1 99 17 5 12 0.71 intronic rs3756505 CSNK1A1 AU NM_001271742 exon3 c.10174-66T>C 0.15655 0.1935 Uncertain 5_148886823_G->A 5 148886823 148886823 G A snp 119.77 0/1 99 10 4 6 0.6 intronic CSNK1A1 AU NM_001271742 exon3 c.10281+127G>A Uncertain 5_148977613_C->T 5 148977613 148977613 C T snp 1325.77 1/1 96 41 0 41 1.0 intronic rs7709875 ARHGEF37 AU NM_001001669 exon2 c.186+95C>T 0.61861 0.7173 Uncertain 5_148997686_A->G 5 148997686 148997686 A G snp 7799.77 1/1 99 250 1 249 1.0 intronic rs6579750 ARHGEF37 AU NM_001001669 exon6 c.20406-52A>G 0.918131 1 Uncertain 5_148998380_G->A 5 148998380 148998380 G A snp 340.77 0/1 99 35 23 12 0.34 intronic rs67057970 ARHGEF37 AU NM_001001669 exon7 c.21168-120G>A 0.0802716 0.1627 Uncertain 5_148999881_-->C 5 148999881 148999881 - C indel 411.73 0/1 99 34 21 13 0.38 intronic rs11409449 ARHGEF37 AU NM_001001669 exon8 c.22584-35insC 0.629393 0.8323 0.515745 0.5877 0.8249 Uncertain 5_149000039_C->T 5 149000039 149000039 C T snp 1897.77 0/1 99 169 79 90 0.53 intronic rs7733761 ARHGEF37 AU NM_001001669 exon8 c.22695+12C>T 0.629393 0.8323 0.521659 0.5908 0.8258 Uncertain 5_149001283_T->C 5 149001283 149001283 T C snp 1928.77 0/1 99 158 83 75 0.47 intronic rs78820823 ARHGEF37 AU NM_001001669 exon9 c.23963-12T>C 0.169129 0.3333 0.123556 0.1719 0.3238 Uncertain 5_149003851_A->C 5 149003851 149003851 A C snp 325.78 1/1 27 9 0 9 1.0 intronic rs10037341 ARHGEF37 AU NM_001001669 exon10 c.26371+148A>C 0.686701 0.5833 Uncertain 5_149006519_CAGTGG->- 5 149006519 149006524 CAGTGG - indel 1174.73 0/1 99 28 13 15 0.54 intronic rs147615867 ARHGEF37 AU NM_001001669 exon11 c.29306-119_29306-114delCAGTGG 0.29353 0.1706 Uncertain 5_149006640_C->T 5 149006640 149006640 C T snp 1777.77 0/1 99 150 70 80 0.53 exonic rs9324624 ARHGEF37 AU nonsynonymous SNV NM_001001669 exon11 c.C1466T p.P489L 0.375599 0.1706 0.475894 0.4193 0.1801 0.06 T 1.000 P -0.886 T 1.0 D 0.963 D Pathogenic 5_149006837_A->G 5 149006837 149006837 A G snp 2115.77 1/1 99 75 0 75 1.0 splicing rs7732873 ARHGEF37 AU NM_001001669 exon11 c.29502+3A>G 0.615216 0.5893 0.683366 0.6616 0.5742 Pathogenic 5_149006879_A->G 5 149006879 149006879 A G snp 929.77 1/1 69 28 0 28 1.0 intronic rs7733002 ARHGEF37 AU NM_001001669 exon11 c.29502+45A>G 0.615415 0.5903 0.680288 0.6614 0.5755 Uncertain 5_149008403_A->G 5 149008403 149008403 A G snp 2348.77 1/1 99 87 0 87 1.0 exonic rs1056993 ARHGEF37 AU synonymous SNV NM_001001669 exon12 c.A1692G p.L564L 0.672125 0.8363 0.689244 0.6896 0.8525 Uncertain 5_149008467_C->A 5 149008467 149008467 C A snp 774.77 0/1 99 63 27 36 0.57 exonic rs3733662 ARHGEF37 AU nonsynonymous SNV NM_001001669 exon12 c.C1756A p.P586T 0.160343 0.3333 0.116493 0.1634 0.3181 0.39 T 0.0 P -0.982 T 0.001 T 0.006 T Pathogenic 5_149008521_A->G 5 149008521 149008521 A G snp 921.77 1/1 66 32 0 32 1.0 exonic rs1135093 ARHGEF37 AU nonsynonymous SNV NM_001001669 exon12 c.A1810G p.M604V 0.69369 0.8363 0.710487 0.6952 0.8521 1 T 0.0 P -0.962 T 0.0 T 0.0 T Pathogenic 5_149112195_T->A 5 149112195 149112195 T A snp 80.77 0/1 67 5 2 3 0.6 intronic rs1076063 PPARGC1B AR,AD,AO NM_001172698 exon1 c.78+2212T>A 0.138778 0.247 Uncertain 5_149240767_T->C 5 149240767 149240767 T C snp 212.84 1/1 18 6 0 6 1.0 intronic rs30887 PDE6A AU NM_000440 exon1 c.77+233T>C 0.734625 0.8641 Uncertain 5_149240788_T->A 5 149240788 149240788 T A snp 54.74 1/1 6 2 0 2 1.0 intronic rs6875974 PDE6A AU NM_000440 exon1 c.77+254T>A 0.344649 0.1905 Uncertain 5_149242950_C->T 5 149242950 149242950 C T snp 40.77 0/1 69 7 4 3 0.43 intronic rs55892806 PDE6A AU NM_000440 exon2 c.2372+121C>T 0.0710863 0.0427 Uncertain 5_149276373_T->C 5 149276373 149276373 T C snp 1767.77 0/1 99 176 96 80 0.45 intronic rs2244836 PDE6A AU NM_000440 exon12 c.35882+34T>C 0.347644 0.2857 0.311856 0.3353 0.2584 Uncertain 5_149283406_C->G 5 149283406 149283406 C G snp 1075.77 0/1 99 62 20 42 0.68 intronic rs251346 PDE6A AU NM_000440 exon15 c.42801+148C>G 0.747204 0.5208 Uncertain 5_149301335_T->C 5 149301335 149301335 T C snp 592.77 0/1 99 34 13 21 0.62 intronic rs11167487 PDE6A AU NM_000440 exon18 c.60815+63T>C 0.382388 0.2579 0.288655 Uncertain 5_149310447_A->G 5 149310447 149310447 A G snp 199.8 0/1 21 7 1 6 0.86 intronic rs3756305 PDE6A AU NM_000440 exon19 c.70133-143A>G 0.224441 0.2153 Uncertain 5_149323772_G->A 5 149323772 149323772 G A snp 722.77 0/1 99 54 26 28 0.52 exonic rs2277926 PDE6A AU synonymous SNV NM_000440 exon1 c.C465T p.N155N 0.249002 0.246 0.175457 0.1998 0.2413 CLINSIG=non-pathogenic;CLNDBN=not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000127383.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Uncertain 5_149323906_T->G 5 149323906 149323906 T G snp 2164.77 0/1 99 228 125 103 0.45 exonic rs2277925 PDE6A AU synonymous SNV NM_000440 exon1 c.A331C p.R111R 0.282548 0.246 0.207366 0.2091 0.2420 CLINSIG=non-pathogenic;CLNDBN=not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000127388.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Uncertain 5_149360877_T->C 5 149360877 149360877 T C snp 5591.77 1/1 99 196 1 195 0.99 exonic rs30832 SLC26A2 AR nonsynonymous SNV NM_000112 exon3 c.T1721C p.I574T 0.993233 0.9928 1 0.46 T 0.0 P -0.948 T 0.0 T 0.0 T ID=CM016008;DIS=Diastrophic dysplasia;TAG=DM?;PUB=11241838 DM? Pathogenic 5_149374880_T->- 5 149374880 149374880 T - indel 3312.73 0/1 99 202 104 98 0.49 exonic rs3832324 TIGD6 AU frameshift deletion NM_001243253 exon2 c.1032delA p.Q344fs 0.51877 0.5853 0.568291 0.6030 0.6094 Pathogenic 5_149374932_T->C 5 149374932 149374932 T C snp 1643.77 0/1 99 152 83 69 0.45 exonic rs10875553 TIGD6 AU nonsynonymous SNV NM_001243253 exon2 c.A980G p.Q327R 0.667532 0.6954 0.710441 0.7538 0.7209 1 T 0.0 P -0.969 T 0.0 T 0.0 T Pathogenic 5_149375110_C->T 5 149375110 149375110 C T snp 1920.77 0/1 99 144 64 80 0.56 exonic rs116897210 TIGD6 AU nonsynonymous SNV NM_001243253 exon2 c.G802A p.V268M 0.0131789 0.0238 0.001538 0.0131 0.0228 0.11 T 1.000 N -1.020 T 0.048 T 0.084 T Pathogenic 5_149380158_C->T 5 149380158 149380158 C T snp 3204.83 0/1 99 246 107 139 0.57 UTR5 rs3812008 TIGD6 AU 0.407348 0.5198 Uncertain 5_149380159_G->C 5 149380159 149380159 G C snp 3345.77 0/1 99 246 105 141 0.57 UTR5 rs3812009 TIGD6 AU 0.801518 0.6944 Uncertain 5_149406271_C->T 5 149406271 149406271 C T snp 2541.77 0/1 99 236 127 109 0.46 exonic rs6579767 HMGXB3 AU nonsynonymous SNV NM_014983 exon8 c.C1463T p.A488V 0.801118 0.6954 0.849102 0.7800 0.7403 0 D 0.000 P -1.010 T 0.0 T 0.0 T Pathogenic 5_149406733_G->T 5 149406733 149406733 G T snp 67.77 0/1 93 6 3 3 0.5 intronic rs2304069 HMGXB3 AU NM_014983 exon9 c.22265+53G>T 0.74381 0.6925 0.809023 Uncertain 5_149424966_G->A 5 149424966 149424966 G A snp 655.77 0/1 99 61 33 28 0.46 intronic rs2276983 HMGXB3 AU NM_014983 exon16 c.40613-62G>A 0.799321 0.6885 Uncertain 5_149427387_T->G 5 149427387 149427387 T G snp 2541.77 1/1 99 86 0 86 1.0 intronic rs2043284 HMGXB3 AU NM_014983 exon17 c.42905+67T>G 0.996006 1 Uncertain 5_149428424_G->C 5 149428424 149428424 G C snp 40.77 0/1 69 6 4 2 0.33 intronic rs216126 HMGXB3 AU NM_014983 exon18 c.43833+176G>C 0.690695 0.6964 Uncertain 5_149431223_G->A 5 149431223 149431223 G A snp 1114.77 0/1 99 82 42 40 0.49 intronic rs216131 HMGXB3 AU NM_014983 exon20 c.46872-64G>A 0.8125 0.6954 Uncertain 5_149431259_A->G 5 149431259 149431259 A G snp 1831.77 0/1 99 164 83 81 0.49 intronic rs216132 HMGXB3 AU NM_014983 exon20 c.46872-28A>G 0.79972 0.7054 0.826325 0.8109 0.7926 Uncertain 5_149433596_T->G 5 149433596 149433596 T G snp 1385.77 0/1 99 107 52 55 0.51 UTR3 rs2066934 CSF1R AD 0.796725 0.7153 0.480778 0.7754 0.7267 Uncertain 5_149433597_G->A 5 149433597 149433597 G A snp 1344.77 0/1 99 107 52 55 0.51 UTR3 rs2066933 CSF1R AD 0.795927 0.7113 0.495925 0.7745 0.7198 Uncertain 5_149435759_G->A 5 149435759 149435759 G A snp 2838.77 0/1 99 202 85 117 0.58 intronic rs216136 CSF1R AD NM_005211 exon5 c.2150-22G>A 0.394169 0.4593 0.459326 0.5308 0.4524 ID=COSN167607;OCCURENCE=1(large_intestine) Uncertain 5_149437190_C->G 5 149437190 149437190 C G snp 1145.77 0/1 99 95 48 47 0.49 intronic rs216138 CSF1R AD NM_005211 exon7 c.3524+35C>G 0.791933 0.7083 0.821159 0.7705 0.7209 Uncertain 5_149440644_C->T 5 149440644 149440644 C T snp 661.77 0/1 99 50 28 22 0.44 intronic rs170037 CSF1R AD NM_005211 exon9 c.6904+109C>T 0.43151 0.4633 Uncertain 5_149440645_C->T 5 149440645 149440645 C T snp 652.77 0/1 99 50 28 22 0.44 intronic rs77510451 CSF1R AD NM_005211 exon9 c.6904+110C>T 0.0970447 0.3274 Uncertain 5_149441017_C->- 5 149441017 149441017 C - indel 347.73 0/1 99 19 7 12 0.63 intronic rs11286566 CSF1R AD NM_005211 exon10 c.7422-36delC 0.389177 0.4653 0.450240 0.5657 0.4874 Uncertain 5_149447628_A->G 5 149447628 149447628 A G snp 162.77 0/1 99 26 17 9 0.35 intronic rs216150 CSF1R AD NM_005211 exon12 c.14146-149A>G 0.657548 0.6121 Uncertain 5_149450132_T->C 5 149450132 149450132 T C snp 788.77 0/1 99 54 19 35 0.65 exonic rs10079250 CSF1R AD nonsynonymous SNV NM_005211 exon8 c.A1085G p.H362R 0.153355 0.381 0.073774 0.1192 0.3644 0 D 0.000 P -0.922 T 0.255 T 0.157 T Pathogenic 5_149452793_C->T 5 149452793 149452793 C T snp 127.78 0/1 25 7 1 6 0.86 intronic rs10044553 CSF1R AD NM_005211 exon16 c.19232-70C>T 0.300719 0.5139 Uncertain 5_149495537_G->A 5 149495537 149495537 G A snp 181.77 0/1 99 26 17 9 0.35 intronic rs75732095 PDGFRB AD NM_002609 exon1 c.184+28G>A 0.0577077 0.1696 0.021546 0.0263 0.1859 Uncertain 5_149495606_G->A 5 149495606 149495606 G A snp 121.77 0/1 56 8 2 6 0.75 intronic rs12655077 PDGFRB AD NM_002609 exon1 c.184+97G>A 0.0644968 0.2034 Uncertain 5_149497107_G->A 5 149497107 149497107 G A snp 176.9 1/1 15 5 0 5 1.0 intronic rs28368814 PDGFRB AD NM_002609 exon2 c.1855-73G>A Uncertain 5_149504158_T->C 5 149504158 149504158 T C snp 195.77 0/1 99 19 12 7 0.37 intronic rs1075846 PDGFRB AD NM_002609 exon11 c.8964-131T>C 0.421126 0.378 Uncertain 5_149509270_A->G 5 149509270 149509270 A G snp 349.78 1/1 27 9 0 9 1.0 intronic rs1864972 PDGFRB AD NM_002609 exon14 c.13994-49A>G 0.805312 0.8492 0.707353 0.7136 0.8467 Uncertain 5_149513072_A->G 5 149513072 149513072 A G snp 631.94 1/1 14 20 1 19 0.95 intronic rs2240780 PDGFRB AD NM_002609 exon18 c.17823-76A>G 0.560503 0.5913 Uncertain 5_149515074_G->A 5 149515074 149515074 G A snp 360.77 0/1 99 36 21 15 0.42 intronic rs740750 PDGFRB AD NM_002609 exon21 c.19792-43G>A 0.459864 0.4306 0.459403 0.5264 0.4032 Uncertain 5_149516480_C->T 5 149516480 149516480 C T snp 355.77 0/1 99 25 12 13 0.52 intronic rs2240781 PDGFRB AD NM_002609 exon22 c.21245-90C>T 0.460064 0.4306 Uncertain 5_149546426_A->G 5 149546426 149546426 A G snp 734.77 0/1 99 90 54 36 0.4 UTR5 rs2302274 CDX1 AU 0.575679 0.5962 0.5572 0.5747 Uncertain 5_149546828_C->G 5 149546828 149546828 C G snp 120.77 0/1 99 17 10 7 0.41 exonic rs2302275 CDX1 AU nonsynonymous SNV NM_001804 exon1 c.C389G p.P130R 0.574481 0.5952 0.7270 0.6875 1 T 0.000 P -0.913 T 0.0 T 0.004 T Pathogenic 5_149574534_C->T 5 149574534 149574534 C T snp 216.77 0/1 99 14 6 8 0.57 intronic rs17652448 SLC6A7 AU NM_014228 exon2 c.4584+60C>T 0.0413339 0.126 Uncertain 5_149576233_G->A 5 149576233 149576233 G A snp 1383.77 1/1 99 48 0 48 1.0 intronic rs2270145 SLC6A7 AU NM_014228 exon3 c.6388-45G>A 0.358427 0.4911 0.407350 0.4559 0.4459 Uncertain 5_149576273_C->T 5 149576273 149576273 C T snp 2448.77 1/1 99 91 0 91 1.0 splicing rs2270146 SLC6A7 AU NM_014228 exon3 c.6388-5C>T 0.382388 0.4911 0.437029 0.4711 0.4446 Pathogenic 5_149578999_T->A 5 149578999 149578999 T A snp 687.77 1/1 51 18 0 18 1.0 intronic rs731376 SLC6A7 AU NM_014228 exon5 c.9039+70T>A 0.818291 0.7083 Uncertain 5_149581795_C->T 5 149581795 149581795 C T snp 56.74 1/1 6 2 0 2 1.0 intronic rs2240787 SLC6A7 AU NM_014228 exon7 c.12019-114C>T 0.0537141 0.1905 Uncertain 5_149583336_T->C 5 149583336 149583336 T C snp 4376.77 1/1 99 152 1 151 0.99 exonic rs2240794 SLC6A7 AU synonymous SNV NM_014228 exon9 c.T1194C p.D398D 0.79353 0.6935 0.818930 0.7749 0.6505 Uncertain 5_149583383_-->GTGTGT 5 149583383 149583383 - GTGTGT indel 2115.73 ./1 99 113 4 109 0.96 intronic SLC6A7 AU NM_014228 exon9 c.13452+41insGTGTGT Uncertain 5_149583383_-->GTGT 5 149583383 149583383 - GTGT indel 2115.73 ./1 99 113 4 109 0.96 intronic rs35380195 SLC6A7 AU NM_014228 exon9 c.13452+41insGTGT Uncertain 5_149584341_T->C 5 149584341 149584341 T C snp 1109.77 1/1 84 41 0 41 1.0 intronic rs6878880 SLC6A7 AU NM_014228 exon12 c.14499-48T>C 0.994209 1 0.992457 0.9922 0.9999 Uncertain 5_149584506_G->A 5 149584506 149584506 G A snp 884.77 0/1 99 65 27 38 0.58 intronic rs34262805 SLC6A7 AU NM_014228 exon12 c.14600+16G>A 0.0890575 0.1667 0.060998 0.0549 0.1514 Uncertain 5_149584834_A->C 5 149584834 149584834 A C snp 46.74 1/1 6 2 0 2 1.0 intronic rs2342281 SLC6A7 AU NM_014228 exon13 c.15128-184A>C 1 1 Uncertain 5_149584847_A->G 5 149584847 149584847 A G snp 96.28 1/1 9 3 0 3 1.0 intronic rs2342282 SLC6A7 AU NM_014228 exon13 c.15128-171A>G Uncertain 5_149584863_A->G 5 149584863 149584863 A G snp 218.84 1/1 18 7 0 7 1.0 intronic rs2342283 SLC6A7 AU NM_014228 exon13 c.15128-155A>G 1 1 Uncertain 5_149584870_C->A 5 149584870 149584870 C A snp 379.77 1/1 30 11 0 11 1.0 intronic rs4423986 SLC6A7 AU NM_014228 exon13 c.15128-148C>A 0.986222 1 Uncertain 5_149584881_G->T 5 149584881 149584881 G T snp 383.78 0/1 0 13 1 12 0.92 intronic rs5024534 SLC6A7 AU NM_014228 exon13 c.15128-137G>T 1 1 Uncertain 5_149584883_T->C 5 149584883 149584883 T C snp 402.22 0/1 4 13 1 12 0.92 intronic rs5024533 SLC6A7 AU NM_014228 exon13 c.15128-135T>C 1 1 Uncertain 5_149584969_-->G 5 149584969 149584969 - G indel 4288.73 1/1 99 102 0 102 1.0 intronic rs11428067 SLC6A7 AU NM_014228 exon13 c.15128-49insG 1 1 1.0000 1 Uncertain 5_149584981_A->G 5 149584981 149584981 A G snp 1474.77 0/1 99 123 60 63 0.51 intronic rs4705425 SLC6A7 AU NM_014228 exon13 c.15128-37A>G 0.479633 0.4583 0.537137 0.4909 0.4327 Uncertain 5_149585025_A->C 5 149585025 149585025 A C snp 5198.77 1/1 99 195 0 195 1.0 exonic rs4705426 SLC6A7 AU nonsynonymous SNV NM_014228 exon13 c.A1540C p.M514L 1 1 1 1 1 T 0.000 P -0.940 T 0.0 T 0.0 T Pathogenic 5_149602608_A->G 5 149602608 149602608 A G snp 6547.77 1/1 99 233 0 233 1.0 exonic rs2241694 CAMK2A AU synonymous SNV NM_015981 exon18 c.T1410C p.D470D 0.910743 0.8423 0.940318 0.9185 0.8329 Uncertain 5_149602824_C->T 5 149602824 149602824 C T snp 2119.77 1/1 99 73 0 73 1.0 intronic rs2241695 CAMK2A AU NM_015981 exon2 c.508+44C>T 0.455471 0.6349 0.447732 0.5420 0.6325 Uncertain 5_149619351_G->A 5 149619351 149619351 G A snp 858.77 0/1 99 63 26 37 0.59 intronic rs78495602 CAMK2A AU NM_015981 exon6 c.17027+52G>A 0.00319489 0.0159 0.0013 0.0180 Uncertain 5_149624902_CCTCCTCCTCCTCCTCCTCCT->- 5 149624902 149624922 CCTCCTCCTCCTCCTCCTCCT - indel 2834.73 1/1 42 35 0 35 1.0 intronic rs149294022 CAMK2A AU NM_015981 exon7 c.22492+138_22492+158delCCTCCTCCTCCTCCTCCTCCT Uncertain 5_149627423_A->G 5 149627423 149627423 A G snp 1076.77 1/1 78 40 0 40 1.0 intronic rs7711562 CAMK2A AU NM_015981 exon8 c.25105+46A>G 0.605431 0.5188 0.577247 0.5146 0.5311 Uncertain 5_149629683_T->C 5 149629683 149629683 T C snp 1342.77 1/1 96 48 0 48 1.0 intronic rs4958452 CAMK2A AU NM_015981 exon9 c.27516-105T>C 0.431909 0.5982 Uncertain 5_149631413_A->G 5 149631413 149631413 A G snp 2614.77 1/1 99 94 0 94 1.0 splicing rs2288799 CAMK2A AU NM_015981 exon11 c.29135+6A>G 0.601438 0.6002 0.563588 0.5161 0.6296 Pathogenic 5_149632955_C->T 5 149632955 149632955 C T snp 406.77 0/1 99 24 10 14 0.58 intronic rs7701427 CAMK2A AU NM_015981 exon13 c.30734-51C>T 0.171925 0.2371 0.188001 Uncertain 5_149636073_T->G 5 149636073 149636073 T G snp 95.28 1/1 9 4 0 4 1.0 intronic rs10463293 CAMK2A AU NM_015981 exon14 c.33863-62T>G 0.551318 0.5645 0.491678 Uncertain 5_149636109_G->A 5 149636109 149636109 G A snp 388.77 1/1 30 12 0 12 1.0 intronic rs10463294 CAMK2A AU NM_015981 exon14 c.33863-26G>A 0.541134 0.5635 0.513169 0.5017 0.6064 Uncertain 5_149644597_T->G 5 149644597 149644597 T G snp 3910.77 1/1 99 154 0 154 1.0 intronic rs891938 CAMK2A AU NM_015981 exon17 c.42306+19T>G 0.999002 0.999 0.994307 0.9967 0.9997 Uncertain 5_149677851_A->G 5 149677851 149677851 A G snp 4635.77 1/1 99 150 0 150 1.0 exonic rs6579784 ARSI AU synonymous SNV NM_001012301 exon2 c.T636C p.Y212Y 0.998802 0.999 0.994156 0.9962 0.9997 Uncertain 5_149737221_T->G 5 149737221 149737221 T G snp 462.77 1/1 36 14 0 14 1.0 UTR5 rs4565199 TCOF1 AD 0.999401 1 Uncertain 5_149743976_C->T 5 149743976 149743976 C T snp 172.77 0/1 99 16 9 7 0.44 intronic rs891941 TCOF1 AD NM_001135244 exon3 c.6506+161C>T 0.148163 0.1508 Uncertain 5_149744017_C->T 5 149744017 149744017 C T snp 56.74 1/1 6 2 0 2 1.0 intronic rs7703914 TCOF1 AD NM_001135244 exon3 c.6506+202C>T 0.038139 0.0258 Uncertain 5_149767294_A->C 5 149767294 149767294 A C snp 43.77 0/1 51 4 2 2 0.5 intronic rs12519483 TCOF1 AD NM_001135244 exon18 c.30155-170A>C 0.0107827 0.0119 Uncertain 5_149901373_G->C 5 149901373 149901373 G C snp 1161.77 1/1 84 37 0 37 1.0 intronic rs10075355 NDST1 AR NM_001543 exon2 c.513+44G>C 0.322484 0.2629 0.341211 0.3654 0.2998 Uncertain 5_149907533_T->G 5 149907533 149907533 T G snp 6209.77 1/1 99 212 0 212 1.0 exonic rs2273235 NDST1 AR synonymous SNV NM_001543 exon3 c.T681G p.V227V 0.365815 0.2788 0.410349 0.4512 0.3172 Uncertain 5_149907602_A->G 5 149907602 149907602 A G snp 6490.77 1/1 99 229 0 229 1.0 exonic rs2273234 NDST1 AR synonymous SNV NM_001543 exon3 c.A750G p.P250P 0.299521 0.1458 0.367502 0.4206 0.1625 Uncertain 5_149914401_T->C 5 149914401 149914401 T C snp 2588.77 1/1 99 80 0 80 1.0 intronic rs2545341 NDST1 AR NM_001543 exon5 c.13612-27T>C 0.671229 0.6580 0.6522 Uncertain 5_149919739_G->C 5 149919739 149919739 G C snp 4277.77 1/1 99 155 0 155 1.0 exonic rs1290147 NDST1 AR synonymous SNV NM_001543 exon8 c.G1662C p.T554T 0.806909 0.7808 0.745502 0.7156 0.7894 Uncertain 5_149921251_G->C 5 149921251 149921251 G C snp 2553.77 1/1 99 85 0 85 1.0 intronic rs2304063 NDST1 AR NM_001543 exon9 c.20412+23G>C 0.390128 0.4354 0.4482 Uncertain 5_149931222_T->G 5 149931222 149931222 T G snp 221.84 1/1 18 7 0 7 1.0 intronic rs6579792 NDST1 AR NM_001543 exon14 c.30498-92T>G 0.800319 0.7857 Uncertain 5_149932602_C->T 5 149932602 149932602 C T snp 307.78 1/1 24 8 0 8 1.0 intronic rs6893285 NDST1 AR NM_001543 exon15 c.31958-172C>T 0.635783 0.5188 Uncertain 5_149998128_G->A 5 149998128 149998128 G A snp 961.77 0/1 99 74 30 44 0.59 intergenic rs6579797 NDST1 AR 0.171925 0.2738 0.080158 0.1016 0.2615 1 T 0.000 P -0.959 T 0.0 T 0.0 T Uncertain 5_150051958_T->C 5 150051958 150051958 T C snp 6918.77 1/1 99 250 0 250 1.0 exonic rs194134 MYOZ3 AU nonsynonymous SNV NM_001122853 exon6 c.T481C p.S161P 0.994808 1 0.988698 0.9903 0.9998 1 T 1.000 P -0.955 T 0.0 T 0.0 T Pathogenic 5_150072693_A->G 5 150072693 150072693 A G snp 710.77 1/1 54 27 0 27 1.0 intronic rs33410 RBM22 AU NM_018047 exon3 c.1468-87A>G 0.860623 0.998 Uncertain 5_150076546_C->G 5 150076546 150076546 C G snp 195.77 0/1 58 9 2 7 0.78 intronic rs41287134 RBM22 AU NM_018047 exon7 c.5141+93C>G 0.101637 0.1766 Uncertain 5_150076556_T->C 5 150076556 150076556 T C snp 120.78 0/1 27 5 1 4 0.8 intronic rs41290547 RBM22 AU NM_018047 exon7 c.5141+103T>C 0.117412 0.1766 Uncertain 5_150077190_G->A 5 150077190 150077190 G A snp 364.77 0/1 99 46 27 19 0.41 intronic rs78782573 RBM22 AU NM_018047 exon7 c.5141+737G>A 0.0607029 0.0962 Uncertain 5_150097883_G->C 5 150097883 150097883 G C snp 1153.77 0/1 99 107 63 44 0.41 exonic rs11954652 DCTN4 AU nonsynonymous SNV NM_001135643 exon12 c.C1047G p.F349L 0.270767 0.2589 0.210980 0.1274 0.2642 0.91 T 0.000 P -0.939 T 0.0 T 0.0 T ID=CM127582;DIS=Pseudomonas aeruginosa infection in cystic fibrosis, increased risk;TAG=DP;PUB=22772370 DP Pathogenic 5_150110887_-->TG 5 150110887 150110887 - TG indel 2292.73 0/1 99 144 74 70 0.49 intronic rs144941813 DCTN4 AU NM_001135644 exon8 c.20267-90insTG 0.0746805 0.1766 Uncertain 5_150113130_G->A 5 150113130 150113130 G A snp 362.77 0/1 99 23 11 12 0.52 intronic rs2287662 DCTN4 AU NM_001135644 exon9 c.22327+93G>A 0.191094 0.256 Uncertain 5_150121640_G->A 5 150121640 150121640 G A snp 1690.77 0/1 99 212 127 85 0.4 intronic rs371691380 DCTN4 AU NM_001135644 exon10 c.30965-35G>A 0.000077 0.0002 0.0007 Uncertain 5_150135900_C->T 5 150135900 150135900 C T snp 140.77 0/1 99 17 7 10 0.59 intronic rs73278072 DCTN4 AU NM_001135644 exon12 c.45268-78C>T 0.191094 0.256 Uncertain 5_150138634_A->G 5 150138634 150138634 A G snp 173.77 0/1 99 16 10 6 0.38 UTR5 rs7706089 DCTN4 AU 0.191893 0.2569 Uncertain 5_150157947_C->T 5 150157947 150157947 C T snp 290.77 0/1 99 22 12 10 0.45 UTR5 rs12653083 SMIM3 AU 0.15655 0.2569 Uncertain 5_150158164_C->G 5 150158164 150158164 C G snp 2104.77 0/1 99 214 115 99 0.46 UTR5 rs12653537 SMIM3 AU 0.15655 0.2569 0.080776 0.1233 0.2595 Uncertain 5_150158199_C->T 5 150158199 150158199 C T snp 1708.77 0/1 99 179 100 79 0.44 UTR5 rs12653541 SMIM3 AU 0.15655 0.2569 0.078323 0.1249 0.2639 Uncertain 5_150158226_A->C 5 150158226 150158226 A C snp 1522.77 0/1 99 150 84 66 0.44 UTR5 rs12657686 SMIM3 AU 0.15655 0.2569 0.076857 0.1292 0.2677 Uncertain 5_150158563_T->C 5 150158563 150158563 T C snp 307.77 0/1 99 27 13 14 0.52 intronic rs756110980 SMIM3 AU 0.0001 0 Uncertain 5_150174892_T->G 5 150174892 150174892 T G snp 341.78 1/1 27 10 0 10 1.0 intronic rs67669533 SMIM3 AU 0.304313 0.626 Uncertain 5_150174959_G->A 5 150174959 150174959 G A snp 659.77 0/1 99 40 13 27 0.68 intronic rs73282209 SMIM3 AU 0.181709 0.4266 0.090573 0.1211 0.4217 Uncertain 5_150227615_G->A 5 150227615 150227615 G A snp 301.77 0/1 99 15 6 9 0.6 UTR5 rs9637870 IRGM AU 0.257788 0.4315 Uncertain 5_150227966_C->A 5 150227966 150227966 C A snp 1627.77 0/1 99 149 85 64 0.43 exonic rs72553867 IRGM AU nonsynonymous SNV NM_001145805 exon2 c.C281A p.T94K 0.0623003 0.1667 0.032194 0.0497 0.1285 0.01 T 0.0 P -1.054 T 0.988 D 0.796 D Pathogenic 5_150227998_C->T 5 150227998 150227998 C T snp 2091.77 0/1 99 142 59 83 0.58 exonic rs10065172 IRGM AU synonymous SNV NM_001145805 exon2 c.C313T p.L105L 0.303714 0.4335 0.194919 0.1913 0.3631 CLINSIG=other;CLNDBN=Inflammatory_bowel_disease_19;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000023694.1;CLNDSDB=MedGen:OMIM;CLNDSDBID=C2677079:612278 ID=CM073146;DIS=Crohn's disease, susceptibility to, association;TAG=DP;PUB=17554261 DP Uncertain 5_150257391_C->T 5 150257391 150257391 C T snp 256.77 0/1 99 16 7 9 0.56 intergenic rs1428555 IRGM AU 0.304113 0.4306 Uncertain 5_150257616_A->G 5 150257616 150257616 A G snp 1279.77 0/1 99 117 57 60 0.51 intergenic rs1428554 IRGM AU 0.30631 0.4315 0.2009 0.4520 Uncertain 5_150257627_G->A 5 150257627 150257627 G A snp 1299.77 0/1 99 101 45 56 0.55 intergenic rs1428553 IRGM AU 0.2016 0.4554 Uncertain 5_150257722_G->A 5 150257722 150257722 G A snp 65.77 0/1 94 8 5 3 0.38 intergenic rs80213358 IRGM AU 0.0625 0.1677 Uncertain 5_150275787_C->T 5 150275787 150275787 C T snp 942.77 0/1 99 82 38 44 0.54 exonic rs17800771 ZNF300 AU synonymous SNV NM_001172832 exon5 c.G906A p.S302S 0.0621006 0.1409 0.038473 0.0510 0.1680 Uncertain 5_150276613_A->T 5 150276613 150276613 A T snp 654.77 0/1 99 37 15 22 0.59 intronic rs77756126 ZNF300 AU NM_001172832 exon1 c.1550+78A>T 0.0623003 0.1419 Uncertain 5_150277909_A->G 5 150277909 150277909 A G snp 283.77 0/1 99 18 9 9 0.5 intronic rs11741861 ZNF300 AU NM_001172832 exon3 c.3004-80A>G 0.159345 0.3988 Uncertain 5_150278179_C->T 5 150278179 150278179 C T snp 1169.77 0/1 99 98 48 50 0.51 intronic rs80187235 ZNF300 AU NM_001172832 exon3 c.3131+63C>T 0.0623003 0.1419 Uncertain 5_150282674_-->T 5 150282674 150282674 - T indel 269.73 1/1 36 19 0 19 1.0 intronic rs111355487 ZNF300 AU NM_001172831 exon4 c.7717-28insT 0.1684 0.3687 Uncertain 5_150282784_T->C 5 150282784 150282784 T C snp 2956.77 0/1 99 250 124 126 0.5 intronic rs2290989 ZNF300 AU NM_001172831 exon4 c.7759+40T>C 0.0573083 0.1419 0.032194 0.0491 0.1680 Uncertain 5_150311622_A->G 5 150311622 150311622 A G snp 903.77 0/1 99 62 28 34 0.55 ncRNA_exonic rs12656542 ZNF300P1 AU 0.686302 0.8363 Uncertain 5_150311678_A->G 5 150311678 150311678 A G snp 2032.77 0/1 99 164 74 90 0.55 ncRNA_exonic rs11167525 ZNF300P1 AU 0.682308 0.8363 Uncertain 5_150311773_T->C 5 150311773 150311773 T C snp 2624.77 0/1 99 199 83 116 0.58 ncRNA_exonic rs7727919 ZNF300P1 AU 0.686302 0.8363 0.5891 0.6630 Uncertain 5_150311858_T->- 5 150311858 150311858 T - indel 1174.73 0/1 99 66 27 39 0.59 ncRNA_splicing rs10719367 ZNF300P1 AU 0.686302 0.8363 0.5966 0.6713 Uncertain 5_150311872_A->G 5 150311872 150311872 A G snp 570.77 0/1 99 33 13 20 0.61 ncRNA_intronic rs12656600 ZNF300P1 AU 0.165335 0.4097 0.1539 0.4176 Uncertain 5_150321577_A->C 5 150321577 150321577 A C snp 77.77 0/1 99 6 3 3 0.5 ncRNA_intronic rs6893670 ZNF300P1 AU 0.6873 0.8363 Uncertain 5_150323428_A->G 5 150323428 150323428 A G snp 1233.77 0/1 99 114 59 55 0.48 ncRNA_exonic rs17800987 ZNF300P1 AU 0.198283 0.4097 0.1406 0.2514 Uncertain 5_150323531_TGGGAGAAGGTCGTGA->- 5 150323531 150323546 TGGGAGAAGGTCGTGA - indel 2436.73 0/1 99 60 29 31 0.52 ncRNA_intronic rs112582282 ZNF300P1 AU 0.720048 0.8363 Uncertain 5_150404703_G->A 5 150404703 150404703 G A snp 222.84 1/1 18 6 0 6 1.0 intronic rs3763011 GPX3 AU NM_002084 exon2 c.4685-197G>A 0.348442 0.62 Uncertain 5_150406372_G->A 5 150406372 150406372 G A snp 339.78 1/1 27 11 0 11 1.0 intronic rs869975 GPX3 AU NM_002084 exon3 c.6245-88G>A 0.158746 0.4117 Uncertain 5_150407456_T->C 5 150407456 150407456 T C snp 3197.84 1/1 99 124 0 124 1.0 intronic rs8177447 GPX3 AU NM_002084 exon5 c.7254-13T>C 0.801118 0.9702 0.788458 0.8321 0.9753 0.000 P -1.029 T Uncertain 5_150407783_C->T 5 150407783 150407783 C T snp 3086.77 1/1 99 105 0 105 1.0 UTR3 rs11548 GPX3 AU 0.18151 0.4117 Uncertain 5_150409477_T->C 5 150409477 150409477 T C snp 1023.77 1/1 75 32 0 32 1.0 downstream rs2277940 GPX3 AU 0.164137 0.4167 Uncertain 5_150413406_A->C 5 150413406 150413406 A C snp 745.77 1/1 54 26 0 26 1.0 intronic rs2233305 TNIP1 AU NM_001252386 exon3 c.3087+46A>C 0.747204 0.9464 0.751499 0.8147 0.9651 Uncertain 5_150418959_T->C 5 150418959 150418959 T C snp 423.77 1/1 33 11 0 11 1.0 intronic rs62382333 TNIP1 AU NM_001252386 exon7 c.8513+173T>C 0.161542 0.4097 Uncertain 5_150422765_A->C 5 150422765 150422765 A C snp 472.77 1/1 36 13 0 13 1.0 intronic rs4958876 TNIP1 AU NM_001252386 exon9 c.12249+243A>C 0.862819 0.9692 Uncertain 5_150443005_A->G 5 150443005 150443005 A G snp 418.77 1/1 33 12 0 12 1.0 intronic rs17728260 TNIP1 AU NM_001252386 exon16 c.32900-168A>G 0.204872 0.4911 Uncertain 5_150480520_C->T 5 150480520 150480520 C T snp 1179.77 0/1 99 79 34 45 0.57 UTR3 rs11960458 ANXA6 AU 0.232228 0.3819 0.2049 0.4318 Uncertain 5_150483095_A->G 5 150483095 150483095 A G snp 1035.77 0/1 99 83 35 48 0.58 intronic rs4958892 ANXA6 AU NM_001193544 exon2 c.2122-35A>G 0.442292 0.625 0.349592 0.3949 0.6690 Uncertain 5_150484889_G->A 5 150484889 150484889 G A snp 1388.77 0/1 99 148 86 62 0.42 intronic rs868531 ANXA6 AU NM_001193544 exon3 c.3856+25G>A 0.201278 0.3869 0.154822 0.2291 0.4303 Uncertain 5_150489390_A->G 5 150489390 150489390 A G snp 871.77 0/1 99 89 52 37 0.42 exonic rs1133202 ANXA6 AU synonymous SNV NM_001193544 exon21 c.T1512C p.P504P 0.758187 0.6696 0.783196 0.7495 0.6977 Uncertain 5_150498754_A->G 5 150498754 150498754 A G snp 46.77 0/1 31 3 1 2 0.67 intronic rs2303021 ANXA6 AU NM_001193544 exon9 c.17852-106A>G 0.33746 0.499 Uncertain 5_150498981_C->G 5 150498981 150498981 C G snp 605.77 0/1 99 64 35 29 0.45 intronic rs2303022 ANXA6 AU NM_001193544 exon9 c.17943+30C>G 0.33766 0.5 0.254373 0.2949 0.4897 Uncertain 5_150499080_T->C 5 150499080 150499080 T C snp 913.77 1/1 66 32 0 32 1.0 intronic rs2303023 ANXA6 AU NM_001193544 exon9 c.17943+129T>C 0.851637 0.9315 Uncertain 5_150499102_A->G 5 150499102 150499102 A G snp 596.77 1/1 45 19 0 19 1.0 intronic rs2303024 ANXA6 AU NM_001193544 exon9 c.17943+151A>G 0.851637 0.9315 Uncertain 5_150502612_G->A 5 150502612 150502612 G A snp 2697.77 0/1 99 248 136 112 0.45 intronic rs41290567 ANXA6 AU NM_001193544 exon11 c.21564+40G>A 0.0944489 0.1766 0.034661 0.0680 0.1746 Uncertain 5_150503784_C->T 5 150503784 150503784 C T snp 130.77 0/1 99 32 26 6 0.19 intronic rs2303027 ANXA6 AU NM_001193544 exon12 c.22838-62C>T 0.331669 0.5 Uncertain 5_150504098_GAGAGAGAGA->- 5 150504098 150504107 GAGAGAGAGA - indel 623.73 0/1 99 24 7 17 0.71 intronic rs550706210 ANXA6 AU NM_001193544 exon12 c.22920+170_22920+179delGAGAGAGAGA 0.364816 0.5 Uncertain 5_150505794_G->A 5 150505794 150505794 G A snp 190.77 0/1 99 11 5 6 0.55 intronic rs2303028 ANXA6 AU NM_001193544 exon13 c.24954-168G>A 0.261981 0.3909 Uncertain 5_150508875_A->G 5 150508875 150508875 A G snp 79.77 0/1 99 8 4 4 0.5 intronic rs2303031 ANXA6 AU NM_001193544 exon15 c.27959-92A>G 0.0974441 0.1706 Uncertain 5_150510757_C->T 5 150510757 150510757 C T snp 655.77 0/1 99 52 24 28 0.54 intronic rs2303032 ANXA6 AU NM_001193544 exon16 c.29783-34C>T 0.139976 0.2599 0.108735 0.1439 0.2525 Uncertain 5_150512589_-->AAAAT 5 150512589 150512589 - AAAAT indel 4261.73 0/1 99 136 72 64 0.47 intronic rs146823252 ANXA6 AU NM_001193544 exon18 c.31646-65insAAAAT 0.307109 0.3056 Uncertain 5_150512740_G->A 5 150512740 150512740 G A snp 1094.77 0/1 99 88 47 41 0.47 exonic rs11543964 ANXA6 AU synonymous SNV NM_001193544 exon8 c.C459T p.Y153Y 0.0447284 0.1538 0.003984 0.0372 0.2434 Uncertain 5_150516887_G->C 5 150516887 150516887 G C snp 978.77 1/1 72 34 0 34 1.0 splicing rs2303034 ANXA6 AU NM_001193544 exon21 c.35874+5G>C 0.725839 0.878 0.652859 0.7023 0.8975 Pathogenic 5_150517025_C->G 5 150517025 150517025 C G snp 54.74 1/1 6 2 0 2 1.0 intronic rs9324679 ANXA6 AU NM_001193544 exon21 c.35874+143C>G 0.796925 0.8859 Uncertain 5_150518358_A->G 5 150518358 150518358 A G snp 4012.77 1/1 99 145 0 145 1.0 splicing rs3213802 ANXA6 AU NM_001193544 exon22 c.37344+6A>G 0.665935 0.7728 0.023833 0.6332 0.7892 Pathogenic 5_150518359_G->A 5 150518359 150518359 G A snp 3923.77 1/1 99 144 1 143 0.99 intronic rs3213803 ANXA6 AU NM_001193544 exon22 c.37344+7G>A 0.665935 0.7728 0.013529 0.6333 0.7895 Uncertain 5_150518435_T->G 5 150518435 150518435 T G snp 486.77 0/1 99 42 24 18 0.43 intronic rs3213804 ANXA6 AU NM_001193544 exon22 c.37344+83T>G 0.303914 0.4454 Uncertain 5_150518532_A->G 5 150518532 150518532 A G snp 90.28 1/1 9 3 0 3 1.0 intronic rs3815725 ANXA6 AU NM_001193544 exon22 c.37344+180A>G 0.614217 0.7718 Uncertain 5_150518701_A->C 5 150518701 150518701 A C snp 77.77 0/1 30 4 1 3 0.75 intronic rs2303035 ANXA6 AU NM_001193544 exon23 c.37905-212A>C 0.122005 0.1806 Uncertain 5_150518727_G->A 5 150518727 150518727 G A snp 155.77 0/1 63 9 3 6 0.67 intronic rs2303036 ANXA6 AU NM_001193544 exon23 c.37905-186G>A 0.121805 0.1806 Uncertain 5_150518893_C->- 5 150518893 150518893 C - indel 1595.73 0/1 99 91 43 48 0.53 intronic rs3214444 ANXA6 AU NM_001193544 exon23 c.37905-20delC 0.301518 0.4464 0.3010 0.4704 Uncertain 5_150518988_G->A 5 150518988 150518988 G A snp 1349.77 0/1 99 117 58 59 0.5 exonic rs2228458 ANXA6 AU synonymous SNV NM_001193544 exon3 c.C34T p.L12L 0.277556 0.4454 0.178374 0.2885 0.4641 Uncertain 5_150564973_A->C 5 150564973 150564973 A C snp 786.77 0/1 99 57 27 30 0.53 intronic rs2288818 CCDC69 AU NM_015621 exon3 c.1985-9A>C 0.111821 0.123 0.089574 0.0834 0.1302 Uncertain 5_150565770_G->A 5 150565770 150565770 G A snp 1717.77 1/1 99 63 0 63 1.0 intronic rs193728 CCDC69 AU NM_015621 exon4 c.2688+85G>A 0.741414 0.6359 Uncertain 5_150567050_A->- 5 150567050 150567050 A - indel 2933.73 1/1 99 72 0 72 1.0 intronic rs35221501 CCDC69 AU NM_015621 exon5 c.4023+30delA 0.798722 0.6369 0.802077 0.7786 0.6323 Uncertain 5_150567074_-->G 5 150567074 150567074 - G indel 930.73 0/1 99 70 41 29 0.41 intronic rs36036156 CCDC69 AU NM_015621 exon5 c.4023+54insG 0.619209 0.5149 0.630553 Uncertain 5_150567145_G->A 5 150567145 150567145 G A snp 243.77 0/1 99 33 20 13 0.39 intronic rs454130 CCDC69 AU NM_015621 exon5 c.4023+125G>A 0.570088 0.5139 Uncertain 5_150578574_A->G 5 150578574 150578574 A G snp 1440.77 0/1 99 149 86 63 0.42 exonic rs3734038 CCDC69 AU synonymous SNV NM_015621 exon4 c.T303C p.N101N 0.215056 0.1954 0.178994 0.2589 0.1957 Uncertain 5_150595073_A->G 5 150595073 150595073 A G snp 275.77 0/1 94 13 3 10 0.77 intronic rs979453 CCDC69 AU NM_015621 exon9 c.40486-8410A>G 0.410343 0.2004 Uncertain 5_150603400_C->G 5 150603400 150603400 C G snp 1105.77 0/1 99 91 39 52 0.57 intronic CCDC69 AU NM_015621 exon9 c.40486-83C>G Uncertain 5_150603444_C->G 5 150603444 150603444 C G snp 1062.77 0/1 99 135 85 50 0.37 intronic rs248461 CCDC69 AU NM_015621 exon9 c.40486-39C>G 0.353435 0.4593 0.275334 0.3205 0.4746 Uncertain 5_150632832_G->A 5 150632832 150632832 G A snp 2650.77 0/1 99 207 95 112 0.54 exonic rs1048719 GM2A AR nonsynonymous SNV NM_000405 exon1 c.G55A p.A19T 0.0800719 0.2014 0.027449 0.0575 0.1929 0.35 T 0.0 P -1.115 T 0.194 T 0.045 T Pathogenic 5_150639224_T->A 5 150639224 150639224 T A snp 254.8 1/1 21 7 0 7 1.0 intronic rs153476 GM2A AR NM_000405 exon2 c.6538-91T>A Uncertain 5_150639409_A->G 5 150639409 150639409 A G snp 2305.77 0/1 99 210 106 104 0.5 exonic rs153477 GM2A AR nonsynonymous SNV NM_000405 exon2 c.A175G p.I59V 0.663938 0.6637 0.608642 0.6645 0.6402 1 T 0.0 P -0.956 T 0.0 T 0.0 T CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000153332.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 5_150639439_A->G 5 150639439 150639439 A G snp 5400.77 1/1 99 202 0 202 1.0 exonic rs153478 GM2A AR nonsynonymous SNV NM_000405 exon2 c.A205G p.M69V 0.860224 1 0.722897 0.7623 0.9988 0.31 T 0.0 P -0.995 T 0.0 T 0.0 T CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000153333.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 5_150639621_C->G 5 150639621 150639621 C G snp 71.77 0/1 99 9 6 3 0.33 intronic rs2277029 GM2A AR NM_000405 exon2 c.6700+144C>G 0.0992412 0.251 Uncertain 5_150647040_C->T 5 150647040 150647040 C T snp 2147.77 0/1 99 185 95 90 0.49 UTR3 rs9324685 GM2A AR 0.145168 0.253 0.088113 0.0762 0.2594 Uncertain 5_150647156_T->C 5 150647156 150647156 T C snp 1026.77 0/1 99 85 41 44 0.52 UTR3 rs9324686 GM2A AR 0.145168 0.253 0.081691 0.0810 0.2950 Uncertain 5_150647239_A->G 5 150647239 150647239 A G snp 374.77 0/1 99 24 11 13 0.54 UTR3 rs989 GM2A AR 0.44349 0.4802 0.398598 0.4444 0.4528 Uncertain 5_150660769_A->G 5 150660769 150660769 A G snp 809.77 0/1 99 72 38 34 0.47 intronic rs1368393 SLC36A3 AU NM_181774 exon2 c.3791+25A>G 0.573482 0.5337 0.487544 0.4574 0.5407 Uncertain 5_150660794_G->A 5 150660794 150660794 G A snp 561.77 0/1 99 50 32 18 0.36 intronic rs1368394 SLC36A3 AU NM_181774 exon2 c.3791+50G>A 0.561302 0.5337 0.479163 0.4507 0.5398 Uncertain 5_150663561_T->A 5 150663561 150663561 T A snp 336.77 0/1 99 21 10 11 0.52 intronic rs10043175 SLC36A3 AU NM_181774 exon3 c.6651-43T>A 0.223243 0.2956 0.168153 0.1400 0.3002 Uncertain 5_150663565_A->C 5 150663565 150663565 A C snp 380.77 0/1 99 23 10 13 0.57 intronic rs1347147 SLC36A3 AU NM_181774 exon3 c.6651-39A>C 0.573482 0.5337 0.490927 0.4574 0.5396 Uncertain 5_150664343_G->C 5 150664343 150664343 G C snp 362.77 0/1 99 98 74 24 0.24 intronic rs10476766 SLC36A3 AU NM_181774 exon4 c.7319+71G>C Uncertain 5_150666843_A->C 5 150666843 150666843 A C snp 1104.77 0/1 99 107 53 54 0.5 exonic rs6579846 SLC36A3 AU synonymous SNV NM_181774 exon6 c.T672G p.L224L 0.223243 0.2956 0.1405 0.3008 Uncertain 5_150666933_C->A 5 150666933 150666933 C A snp 1178.77 0/1 99 88 37 51 0.58 exonic rs375396 SLC36A3 AU synonymous SNV NM_181774 exon6 c.G582T p.L194L 0.252995 0.4474 0.183608 0.2227 0.4423 Uncertain 5_150666962_G->A 5 150666962 150666962 G A snp 527.77 0/1 99 66 41 25 0.38 exonic rs12520516 SLC36A3 AU nonsynonymous SNV NM_181774 exon6 c.C553T p.P185S 0.0988419 0.2192 0.078195 0.0996 0.2182 0.91 T 0.817 P -0.929 T 0.033 T 0.034 T Pathogenic 5_150667016_T->C 5 150667016 150667016 T C snp 200.77 0/1 99 31 22 9 0.29 exonic rs978012 SLC36A3 AU nonsynonymous SNV NM_181774 exon6 c.A499G p.K167E 0.575879 0.5337 0.492926 0.4599 0.5395 0.32 T 0.0 P -1.097 T 0.0 T 0.0 T Pathogenic 5_150667771_G->A 5 150667771 150667771 G A snp 644.77 1/1 51 18 0 18 1.0 intronic rs246499 SLC36A3 AU NM_181774 exon6 c.10993-175G>A 0.829073 0.9812 Uncertain 5_150667775_A->G 5 150667775 150667775 A G snp 339.77 0/1 99 19 7 12 0.63 intronic rs6579847 SLC36A3 AU NM_181774 exon6 c.10993-171A>G 0.220048 0.2956 Uncertain 5_150668649_T->C 5 150668649 150668649 T C snp 49.77 0/1 33 4 1 3 0.75 intronic rs10071719 SLC36A3 AU NM_001145017 exon7 c.11664+32T>C 0.575679 0.5337 1 . Uncertain 5_150672745_G->A 5 150672745 150672745 G A snp 77.77 0/1 99 6 3 3 0.5 intronic rs6879475 SLC36A3 AU NM_181774 exon7 c.15971-179G>A 0.190895 0.2192 Uncertain 5_150677976_T->C 5 150677976 150677976 T C snp 378.77 1/1 30 10 0 10 1.0 intronic rs2431072 SLC36A3 AU NM_181774 exon9 c.21200-177T>C 0.825679 0.9812 Uncertain 5_150682975_T->C 5 150682975 150682975 T C snp 1271.77 0/1 99 70 21 49 0.7 UTR5 rs6887412 SLC36A3 AU 0.567093 0.5417 Uncertain 5_150683005_T->C 5 150683005 150683005 T C snp 785.77 0/1 99 44 12 32 0.73 UTR5 rs28481793 SLC36A3 AU 0.486821 0.5417 Uncertain 5_150683055_G->A 5 150683055 150683055 G A snp 298.77 0/1 99 14 4 10 0.71 UTR5 rs6866481 SLC36A3 AU 0.440096 0.4306 Uncertain 5_150696447_C->T 5 150696447 150696447 C T snp 2214.77 1/1 99 92 1 91 0.99 exonic rs369907 SLC36A2 AR,AD synonymous SNV NM_181776 exon10 c.G1383A p.Q461Q 0.673522 0.8482 0.549823 0.6152 0.8571 Uncertain 5_150696498_G->A 5 150696498 150696498 G A snp 1883.77 1/1 99 58 0 58 1.0 exonic rs428064 SLC36A2 AR,AD synonymous SNV NM_181776 exon10 c.C1332T p.D444D 0.316693 0.4335 0.270260 0.3832 0.4449 Uncertain 5_150696540_C->T 5 150696540 150696540 C T snp 1295.77 1/1 96 38 0 38 1.0 exonic rs431240 SLC36A2 AR,AD synonymous SNV NM_181776 exon10 c.G1290A p.T430T 0.673522 0.8482 0.549977 0.6146 0.8557 Uncertain 5_150704724_T->C 5 150704724 150704724 T C snp 99.28 1/1 9 3 0 3 1.0 intronic rs246497 SLC36A2 AR,AD NM_181776 exon3 c.8469-122T>C 0.776957 0.9871 Uncertain 5_150704758_A->G 5 150704758 150704758 A G snp 349.78 1/1 27 9 0 9 1.0 intronic rs246496 SLC36A2 AR,AD NM_181776 exon3 c.8469-88A>G 0.778355 0.9871 0.6924 0.9827 Uncertain 5_150722675_G->A 5 150722675 150722675 G A snp 1255.77 1/1 90 42 0 42 1.0 intronic rs2431079 SLC36A2 AR,AD NM_181776 exon7 c.26167+131G>A 0.326677 0.4623 Uncertain 5_150723806_G->A 5 150723806 150723806 G A snp 3994.77 1/1 99 159 1 158 0.99 exonic rs192192 SLC36A2 AR,AD synonymous SNV NM_181776 exon2 c.C187T p.L63L 0.6252 0.9841 0.469860 0.6064 0.9846 Uncertain 5_150838284_C->G 5 150838284 150838284 C G snp 490.77 0/1 99 51 30 21 0.41 intronic rs35256722 SLC36A1 AU 0.484625 0.6438 Uncertain 5_150838293_T->C 5 150838293 150838293 T C snp 692.77 0/1 99 63 37 26 0.41 intronic rs35074529 SLC36A1 AU 0.645367 0.6508 Uncertain 5_150843996_T->C 5 150843996 150843996 T C snp 1026.77 0/1 99 94 49 45 0.48 intronic rs415426 SLC36A1 AU NM_078483 exon4 c.5721-78T>C 0.60603 0.6577 Uncertain 5_150844040_TC->- 5 150844040 150844041 TC - indel 2871.73 0/1 99 133 55 78 0.59 intronic rs139642259 SLC36A1 AU NM_078483 exon4 c.5721-34_5721-33delTC 0.0317492 0.13 0.003994 0.0193 0.1444 Uncertain 5_150844818_C->T 5 150844818 150844818 C T snp 339.77 0/1 99 21 10 11 0.52 intronic rs77561917 SLC36A1 AU NM_078483 exon5 c.6377+88C>T 0.0319489 0.13 Uncertain 5_150846865_G->A 5 150846865 150846865 G A snp 172.77 0/1 99 57 32 25 0.44 intronic rs199753895 SLC36A1 AU NM_078483 exon6 c.8491+21G>A 0.5002 0.5 0.3508 0.4239 Uncertain 5_150846882_C->A 5 150846882 150846882 C A snp 276.77 0/1 99 47 33 14 0.3 intronic rs61191955 SLC36A1 AU NM_078483 exon6 c.8491+38C>A 0.245807 0.376 0.2204 0.3586 Uncertain 5_150847505_T->C 5 150847505 150847505 T C snp 1289.77 0/1 99 125 69 56 0.45 intronic rs441652 SLC36A1 AU NM_078483 exon7 c.9133+19T>C 0.570288 0.5208 0.539213 0.4393 0.4912 Uncertain 5_150847509_A->G 5 150847509 150847509 A G snp 1221.77 0/1 99 123 69 54 0.44 intronic rs394736 SLC36A1 AU NM_078483 exon7 c.9133+23A>G 0.421326 0.5208 0.385130 0.3979 0.4929 Uncertain 5_150847554_T->C 5 150847554 150847554 T C snp 681.77 0/1 99 58 32 26 0.45 intronic rs357621 SLC36A1 AU NM_078483 exon7 c.9133+68T>C 0.421126 0.5208 Uncertain 5_150847574_T->C 5 150847574 150847574 T C snp 482.77 0/1 99 45 25 20 0.44 intronic rs13357451 SLC36A1 AU NM_078483 exon7 c.9133+88T>C 0.321086 0.4871 Uncertain 5_150847587_C->T 5 150847587 150847587 C T snp 242.77 0/1 99 28 16 12 0.43 intronic rs13355111 SLC36A1 AU NM_078483 exon7 c.9133+101C>T 0.0790735 0.1319 Uncertain 5_150847604_A->G 5 150847604 150847604 A G snp 213.77 0/1 99 20 12 8 0.4 intronic rs189615 SLC36A1 AU NM_078483 exon7 c.9133+118A>G 0.421126 0.5208 Uncertain 5_150848654_A->- 5 150848654 150848654 A - indel 484.73 0/1 99 45 21 24 0.53 intronic rs10709981 SLC36A1 AU NM_078483 exon7 c.9133+1168delA 0.420527 0.5258 Uncertain 5_150848701_A->G 5 150848701 150848701 A G snp 1542.77 0/1 99 119 56 63 0.53 intronic rs357624 SLC36A1 AU NM_078483 exon7 c.9133+1215A>G 0.420927 0.5208 Uncertain 5_150848874_A->G 5 150848874 150848874 A G snp 783.77 0/1 99 43 18 25 0.58 intronic rs357625 SLC36A1 AU NM_078483 exon7 c.9133+1388A>G 0.421326 0.5208 Uncertain 5_150853194_TTTTGCTTTG->- 5 150853194 150853203 TTTTGCTTTG - indel 3410.73 0/1 99 61 30 31 0.51 intronic rs11279332 SLC36A1 AU NM_078483 exon8 c.14880-39_14880-30delTTTTGCTTTG 0.423323 0.5258 0.372063 0.3917 0.4853 Uncertain 5_150856107_T->G 5 150856107 150856107 T G snp 874.77 0/1 99 90 44 46 0.51 intronic rs165352 SLC36A1 AU NM_078483 exon9 c.17797-43T>G 0.421526 0.5238 0.385514 0.3893 0.4926 Uncertain 5_150856391_C->T 5 150856391 150856391 C T snp 1037.77 0/1 99 84 38 46 0.55 intronic rs2278374 SLC36A1 AU NM_078483 exon9 c.17964+74C>T 0.0321486 0.1329 0.0253 0.1856 Uncertain 5_150886616_G->A 5 150886616 150886616 G A snp 451.77 0/1 99 26 12 14 0.54 intronic rs7723079 FAT2 AU NM_001447 exon2 c.1589-98G>A 0.830471 0.8254 Uncertain 5_150886725_G->A 5 150886725 150886725 G A snp 4019.77 1/1 99 152 0 152 1.0 exonic rs7723266 FAT2 AU synonymous SNV NM_001447 exon22 c.C12507T p.S4169S 0.911941 0.9643 0.852299 0.8606 0.9772 1.000 P Uncertain 5_150886882_G->A 5 150886882 150886882 G A snp 2552.77 0/1 99 202 102 100 0.5 exonic rs1105168 FAT2 AU nonsynonymous SNV NM_001447 exon22 c.C12350T p.P4117L 0.776957 0.8244 0.653621 0.6643 0.8457 0.71 T 0.0 P -0.982 T 0.0 T 0.0 T Pathogenic 5_150887184_-->AGA 5 150887184 150887184 - AGA indel 3588.73 1/1 99 65 0 65 1.0 intronic rs56258915 FAT2 AU NM_001447 exon2 c.2047+12insAGA 0.903355 0.9653 0.834190 0.8451 0.9777 Uncertain 5_150887200_A->G 5 150887200 150887200 A G snp 624.77 0/1 99 42 19 23 0.55 intronic rs41290577 FAT2 AU NM_001447 exon2 c.2047+28A>G 0.121406 0.1329 0.157134 0.1782 0.1507 Uncertain 5_150889805_A->T 5 150889805 150889805 A T snp 556.77 0/1 99 31 7 24 0.77 intronic rs6870300 FAT2 AU NM_001447 exon3 c.4610+70A>T 0.554513 0.8165 Uncertain 5_150891663_T->C 5 150891663 150891663 T C snp 503.77 1/1 39 13 0 13 1.0 intronic rs6862750 FAT2 AU NM_001447 exon4 c.6600-62T>C 0.798722 0.9494 Uncertain 5_150891733_A->G 5 150891733 150891733 A G snp 1690.77 1/1 99 58 0 58 1.0 exonic rs2304028 FAT2 AU synonymous SNV NM_001447 exon20 c.T11898C p.H3966H 0.799521 0.9494 0.707827 0.7717 0.9716 0.0 P -1.070 T Likely benign 5_150901111_A->G 5 150901111 150901111 A G snp 7942.77 1/1 99 250 0 250 1.0 exonic rs3822699 FAT2 AU synonymous SNV NM_001447 exon18 c.T11043C p.D3681D 0.779553 0.9494 0.696063 0.7657 0.9718 1.000 P -1.039 T Likely benign 5_150901261_C->T 5 150901261 150901261 C T snp 7293.77 1/1 99 249 0 249 1.0 exonic rs6650971 FAT2 AU nonsynonymous SNV NM_001447 exon18 c.G10893A p.M3631I 0.76897 0.9494 0.683684 0.7625 0.9722 0.55 T 0.000 P -1.012 T 0.002 T 0.002 T Pathogenic 5_150901300_G->A 5 150901300 150901300 G A snp 6999.77 1/1 99 246 0 246 1.0 exonic rs3734046 FAT2 AU synonymous SNV NM_001447 exon18 c.C10854T p.Y3618Y 0.764577 0.9484 0.680763 0.7617 0.9718 1.000 P -1.052 T Likely benign 5_150901597_G->C 5 150901597 150901597 G C snp 1189.77 0/1 99 106 59 47 0.44 exonic rs3734047 FAT2 AU synonymous SNV NM_001447 exon18 c.C10557G p.V3519V 0.0974441 0.126 0.153237 0.1574 0.1262 1.000 P -1.047 T Likely benign 5_150901613_A->G 5 150901613 150901613 A G snp 2462.77 1/1 99 85 0 85 1.0 exonic rs2053028 FAT2 AU nonsynonymous SNV NM_001447 exon18 c.T10541C p.L3514S 0.775759 0.9494 0.689989 0.7660 0.9701 0.88 T 0.0 P -0.968 T 0.0 T 0.005 T Pathogenic 5_150901630_G->T 5 150901630 150901630 G T snp 735.77 0/1 99 60 30 30 0.5 exonic rs3734049 FAT2 AU synonymous SNV NM_001447 exon18 c.C10524A p.I3508I 0.0974441 0.126 0.152237 0.1730 0.1394 1.0 P -1.035 T Likely benign 5_150905398_C->T 5 150905398 150905398 C T snp 1677.77 0/1 99 184 108 76 0.41 exonic rs3734051 FAT2 AU synonymous SNV NM_001447 exon17 c.G10437A p.P3479P 0.174121 0.1319 0.243195 0.2086 0.1280 1.000 P -0.964 T Likely benign 5_150907819_T->C 5 150907819 150907819 T C snp 782.77 1/1 60 23 0 23 1.0 intronic rs11743288 FAT2 AU NM_001447 exon9 c.22569+125T>C 0.703874 0.9167 Uncertain 5_150908813_G->A 5 150908813 150908813 G A snp 1156.77 0/1 99 101 54 47 0.47 exonic rs2304024 FAT2 AU nonsynonymous SNV NM_001447 exon14 c.C9952T p.R3318W 0.0966454 0.125 0.151930 0.1570 0.1242 0 D 0.037 P -1.097 T 0.991 D 0.517 D Pathogenic 5_150914184_A->T 5 150914184 150914184 A T snp 3233.06 1/1 99 115 0 115 1.0 exonic rs1432643 FAT2 AU synonymous SNV NM_001447 exon12 c.T9213A p.T3071T 0.632788 0.8085 0.521682 0.5901 0.8434 Uncertain 5_150917545_G->A 5 150917545 150917545 G A snp 887.77 0/1 99 82 46 36 0.44 intronic rs3816007 FAT2 AU NM_001447 exon13 c.32382+38G>A 0.386581 0.2817 0.427649 0.3907 0.3208 Uncertain 5_150923405_A->G 5 150923405 150923405 A G snp 4266.77 1/1 99 148 0 148 1.0 exonic rs6892335 FAT2 AU nonsynonymous SNV NM_001447 exon9 c.T7283C p.F2428S 0.997604 1 0.996694 0.9967 1 0.83 T 0.000 P -0.962 T 0.0 T 0.0 T Pathogenic 5_150942919_A->G 5 150942919 150942919 A G snp 1882.77 1/1 99 66 0 66 1.0 exonic rs6872614 FAT2 AU nonsynonymous SNV NM_001447 exon2 c.T3541C p.Y1181H 0.998403 1 0.996079 0.9969 1 0.21 T 0.0 P -1.012 T 0.0 T 0.0 T Pathogenic 5_150946966_G->A 5 150946966 150946966 G A snp 5259.77 1/1 99 183 0 183 1.0 exonic rs1465690 FAT2 AU synonymous SNV NM_001447 exon1 c.C1527T p.P509P 0.86881 0.7837 0.920960 0.8864 0.7930 Uncertain 5_150948537_T->C 5 150948537 150948537 T C snp 420.77 1/1 33 12 0 12 1.0 upstream rs1469680 FAT2 AU 0.86901 0.7857 0.923958 0.8851 0.7939 Uncertain 5_151047230_A->C 5 151047230 151047230 A C snp 493.77 1/1 39 14 0 14 1.0 intronic rs749575 SPARC AR NM_003118 exon4 c.4030+69A>C 0.217851 0.0675 Uncertain 5_151049404_A->C 5 151049404 151049404 A C snp 4750.77 1/1 99 166 0 166 1.0 intronic rs7719521 SPARC AR NM_003118 exon5 c.6214+59A>C 0.625 0.5208 Uncertain 5_151051489_G->C 5 151051489 151051489 G C snp 252.8 1/1 21 7 0 7 1.0 intronic rs6579885 SPARC AR NM_003118 exon6 c.8124+234G>C 0.197085 0.0675 Uncertain 5_151052537_C->G 5 151052537 151052537 C G snp 93.28 1/1 9 3 0 3 1.0 intronic rs2304050 SPARC AR NM_003118 exon7 c.9558-152C>G 0.205272 0.0675 Uncertain 5_151052563_T->C 5 151052563 151052563 T C snp 307.78 1/1 24 8 0 8 1.0 intronic rs1864966 SPARC AR NM_003118 exon7 c.9558-126T>C 0.623203 0.5179 Uncertain 5_151052659_G->A 5 151052659 151052659 G A snp 2198.77 1/1 99 80 0 80 1.0 intronic rs1978707 SPARC AR NM_003118 exon7 c.9558-30G>A 0.623203 0.5179 0.653083 0.6038 0.5015 Uncertain 5_151054131_A->G 5 151054131 151054131 A G snp 5832.77 1/1 99 210 0 210 1.0 intronic rs2304051 SPARC AR NM_003118 exon8 c.11041-41A>G 0.197684 0.0675 0.190989 0.1096 0.0738 Uncertain 5_151054227_T->C 5 151054227 151054227 T C snp 2871.77 1/1 99 99 0 99 1.0 exonic rs2304052 SPARC AR synonymous SNV NM_003118 exon3 c.A66G p.E22E 0.197684 0.0675 0.190912 0.1096 0.0738 Uncertain 5_151055637_C->G 5 151055637 151055637 C G snp 942.77 1/1 69 28 0 28 1.0 intronic rs7714314 SPARC AR NM_003118 exon9 c.12561-55C>G 0.186102 0.0675 0.167543 Uncertain 5_151138180_G->A 5 151138180 151138180 G A snp 1862.77 0/1 99 166 86 80 0.48 UTR5 rs186313532 ATOX1 AU 0.00658946 0.0139 Uncertain 5_151138211_A->G 5 151138211 151138211 A G snp 1307.77 0/1 99 96 48 48 0.5 upstream rs1549921 ATOX1 AU 0.463658 0.3472 Uncertain 5_151167380_A->T 5 151167380 151167380 A T snp 655.77 0/1 99 40 15 25 0.63 intronic rs7719617 G3BP1 AU NM_198395 exon2 c.95+1104A>T 0.460663 0.3562 0.3786 0.2586 Uncertain 5_151167390_AATATTTTCAATTCATAAAATAAAATTTATGAAT->- 5 151167390 151167423 AATATTTTCAATTCATAAAATAAAATTTATGAAT - indel 2832.73 0/1 99 21 13 8 0.38 intronic rs751867702 G3BP1 AU NM_198395 exon2 c.95+1114_95+1147delAATATTTTCAATTCATAAAATAAAATTTATGAAT 0.4108 0.3148 Uncertain 5_151167493_A->T 5 151167493 151167493 A T snp 74.77 0/1 69 5 2 3 0.6 intronic rs202010691 G3BP1 AU NM_198395 exon2 c.95+1217A>T Uncertain 5_151171509_C->T 5 151171509 151171509 C T snp 777.77 0/1 99 33 7 26 0.79 intronic rs2915869 G3BP1 AU NM_198395 exon4 c.4442+886C>T 0.222644 0.3155 Uncertain 5_151174605_C->G 5 151174605 151174605 C G snp 138.77 0/1 99 13 8 5 0.38 intronic rs2964569 G3BP1 AU NM_198395 exon6 c.8858-434C>G 0.471845 0.3542 Uncertain 5_151180452_T->- 5 151180452 151180452 T - indel 218.73 0/1 99 97 42 55 0.57 intronic rs200261823 G3BP1 AU NM_198395 exon11 c.14249+22delT 0.426318 0.4246 0.4252 0.4022 Uncertain 5_151236039_A->G 5 151236039 151236039 A G snp 398.77 0/1 99 29 15 14 0.48 intronic rs7725327 GLRA1 AR,AD NM_000171 exon5 c.33711+95A>G 0.451278 0.3304 Uncertain 5_151239290_G->A 5 151239290 151239290 G A snp 416.77 0/1 99 26 10 16 0.62 intronic rs7729026 GLRA1 AR,AD NM_000171 exon6 c.37112-55G>A 0.390575 0.3304 Uncertain 5_151239306_T->C 5 151239306 151239306 T C snp 402.77 0/1 99 33 17 16 0.48 intronic rs6870491 GLRA1 AR,AD NM_000171 exon6 c.37112-39T>C 0.450679 0.3304 0.455943 0.4137 0.3247 Uncertain 5_151266084_T->C 5 151266084 151266084 T C snp 194.77 0/1 99 10 4 6 0.6 intronic rs919262 GLRA1 AR,AD NM_000171 exon7 c.64048-197T>C 0.285743 0.381 Uncertain 5_151304306_G->A 5 151304306 151304306 G A snp 240.77 0/1 57 9 2 7 0.78 UTR5 rs2071221 GLRA1 AR,AD 0.416134 0.5089 Uncertain 5_151771817_C->T 5 151771817 151771817 C T snp 2133.77 1/1 99 82 0 82 1.0 exonic rs1363422 NMUR2 AU nonsynonymous SNV NM_020167 exon4 c.G1183A p.A395T 0.998203 1 0.997924 0.9984 1 0.98 T 0.0 P -0.947 T 0.0 T 0.0 T Pathogenic 5_153077484_G->A 5 153077484 153077484 G A snp 182.77 0/1 99 12 6 6 0.5 intronic rs12519746 GRIA1 AU NM_001258021 exon9 c.205845-119G>A 0.36861 0.4335 Uncertain 5_153144216_A->G 5 153144216 153144216 A G snp 1979.77 1/1 99 71 0 71 1.0 intronic rs3813470 GRIA1 AU NM_001258021 exon12 c.272434+24A>G 0.71885 0.9306 0.570737 0.6366 0.9383 Uncertain 5_153149997_C->G 5 153149997 153149997 C G snp 498.77 0/1 99 28 11 17 0.61 intronic rs185198937 GRIA1 AU NM_001258021 exon13 c.278217+22C>G 0.000798722 0.004 0.001153 0.0014 0.0059 Uncertain 5_153372525_G->A 5 153372525 153372525 G A snp 3867.77 1/1 99 137 1 136 0.99 UTR3 rs1057772 FAM114A2 AU 0.666933 0.8571 0.589420 0.6553 0.8794 Uncertain 5_153372743_G->A 5 153372743 153372743 G A snp 453.77 1/1 36 15 0 15 1.0 intronic rs6866471 FAM114A2 AU NM_018691 exon1 c.135+73G>A 0.716653 0.8581 Uncertain 5_153372753_T->C 5 153372753 153372753 T C snp 68.77 0/1 97 10 7 3 0.3 intronic rs76890735 FAM114A2 AU NM_018691 exon1 c.135+83T>C 0.0265575 0.126 Uncertain 5_153381998_G->A 5 153381998 153381998 G A snp 891.77 0/1 99 101 62 39 0.39 intronic rs74196375 FAM114A2 AU NM_018691 exon4 c.9415+48G>A 0.0273562 0.126 0.001538 0.0117 0.1261 Uncertain 5_153382073_TCT->- 5 153382073 153382075 TCT - indel 1583.73 1/1 87 40 0 40 1.0 intronic rs35082504 FAM114A2 AU NM_018691 exon4 c.9415+123_9415+125delTCT 0.668131 0.8571 Uncertain 5_153382124_T->C 5 153382124 153382124 T C snp 351.78 1/1 27 10 0 10 1.0 intronic rs2560060 FAM114A2 AU NM_018691 exon4 c.9415+174T>C 0.666733 0.8571 Uncertain 5_153382739_A->T 5 153382739 153382739 A T snp 52.74 1/1 6 3 0 3 1.0 intronic rs555493 FAM114A2 AU NM_018691 exon5 c.9994+210A>T Uncertain 5_153406644_C->T 5 153406644 153406644 C T snp 674.77 1/1 51 18 0 18 1.0 intronic rs9324765 FAM114A2 AU NM_018691 exon8 c.34200-91C>T 0.715855 0.8581 Uncertain 5_153406987_G->C 5 153406987 153406987 G C snp 896.77 1/1 66 34 0 34 1.0 intronic rs6889563 FAM114A2 AU NM_018691 exon8 c.34359+93G>C 0.716254 0.8581 Uncertain 5_153409152_A->C 5 153409152 153409152 A C snp 901.77 0/1 99 82 45 37 0.45 intronic rs78882620 FAM114A2 AU NM_018691 exon10 c.36605+12A>C 0.0265575 0.126 0.001538 0.0121 0.1284 Uncertain 5_153409195_C->T 5 153409195 153409195 C T snp 496.77 0/1 99 50 32 18 0.36 intronic rs77428878 FAM114A2 AU NM_018691 exon10 c.36605+55C>T 0.0265575 0.126 Uncertain 5_153413390_C->T 5 153413390 153413390 C T snp 2784.77 1/1 99 100 0 100 1.0 exonic rs2578377 FAM114A2 AU nonsynonymous SNV NM_018691 exon4 c.G364A p.G122S 0.716254 0.8581 0.631806 0.6749 0.8798 1 T 0.000 P -0.958 T 0.0 T 0.0 T Pathogenic 5_153414430_C->A 5 153414430 153414430 C A snp 1431.77 0/1 99 141 78 63 0.45 exonic rs138252960 FAM114A2 AU nonsynonymous SNV NM_018691 exon2 c.G84T p.K28N 0.000077 4.943e-05 0 0.34 T 0.999 N -1.036 T 0.549 P 0.174 P ID=COSM1064710;OCCURENCE=1(endometrium) Pathogenic 5_153414545_-->A 5 153414545 153414545 - A indel 910.73 1/1 93 37 0 37 1.0 intronic rs34907432 FAM114A2 AU NM_018691 exon13 c.41992+18insA 0.600639 0.7768 0.6453 0.8680 Uncertain 5_153429169_A->G 5 153429169 153429169 A G snp 90.28 1/1 9 3 0 3 1.0 UTR5 rs478020 MFAP3 AU 0.618411 0.7312 Uncertain 5_153429187_T->A 5 153429187 153429187 T A snp 409.77 1/1 33 11 0 11 1.0 UTR5 rs689715 MFAP3 AU 0.667532 0.8571 Uncertain 5_153429459_T->C 5 153429459 153429459 T C snp 7222.77 1/1 99 250 1 249 1.0 exonic rs690592 MFAP3 AU synonymous SNV NM_001242336 exon2 c.T177C p.D59D 0.715056 0.8581 0.630863 0.6743 0.8800 Uncertain 5_153432450_-->T 5 153432450 153432450 - T indel 1959.73 1/1 99 69 0 69 1.0 intronic rs11451300 MFAP3 AU NM_001242336 exon3 c.3197-29insT 0.701478 0.8413 0.625619 0.6700 0.8763 Uncertain 5_153432733_T->C 5 153432733 153432733 T C snp 7162.77 1/1 99 248 0 248 1.0 exonic rs2578386 MFAP3 AU synonymous SNV NM_001135037 exon2 c.T111C p.A37A 0.715256 0.8581 0.630863 0.6745 0.8801 Uncertain 5_153432970_C->T 5 153432970 153432970 C T snp 5609.77 1/1 99 179 0 179 1.0 exonic rs2255493 MFAP3 AU synonymous SNV NM_001135037 exon2 c.C348T p.D116D 0.715855 0.8581 0.631093 0.6742 0.8798 Uncertain 5_153708963_G->A 5 153708963 153708963 G A snp 252.77 0/1 99 21 12 9 0.43 intronic rs1004977 GALNT10 AU NM_198321 exon4 c.138705-168G>A 0.521366 0.6548 Uncertain 5_153709043_G->A 5 153709043 153709043 G A snp 1891.77 0/1 99 124 58 66 0.53 intronic rs1004976 GALNT10 AU NM_198321 exon4 c.138705-88G>A Uncertain 5_153735817_G->A 5 153735817 153735817 G A snp 1585.77 0/1 99 178 101 77 0.43 intronic rs11167675 GALNT10 AU NM_198321 exon5 c.185410-20019G>A 0.180511 0.1121 Uncertain 5_153783753_C->T 5 153783753 153783753 C T snp 3399.77 1/1 99 117 1 116 0.99 exonic rs6580076 GALNT10 AU synonymous SNV NM_198321 exon8 c.C1146T p.A382A 0.285343 0.1637 0.261879 0.2203 0.1797 Uncertain 5_153788991_G->C 5 153788991 153788991 G C snp 4432.77 1/1 99 161 0 161 1.0 ncRNA_intronic rs2112605 SAP30L-AS1 AU 0.288538 0.371 0.315835 0.3440 0.3743 Uncertain 5_153795275_A->- 5 153795275 153795275 A - indel 2348.73 1/1 99 72 0 72 1.0 ncRNA_intronic rs11321246 SAP30L-AS1 AU 0.777356 0.9911 Uncertain 5_153830890_G->A 5 153830890 153830890 G A snp 385.77 1/1 30 11 0 11 1.0 intronic rs2277939 SAP30L AU NM_024632 exon2 c.4609+117G>A Uncertain 5_153835378_C->G 5 153835378 153835378 C G snp 1842.77 0/1 99 175 98 77 0.44 intronic rs1007404 SAP30L AU NM_001131063 exon3 c.9295-81C>G 0.243411 0.2946 Uncertain 5_153856974_C->G 5 153856974 153856974 C G snp 1638.77 0/1 99 138 74 64 0.46 intronic rs1846966 HAND1 AU NM_004821 exon2 c.1660-51C>G 0.305312 0.3462 0.281304 Uncertain 5_154065383_A->- 5 154065383 154065383 A - indel 1521.73 1/1 99 47 0 47 1.0 ncRNA_exonic rs33982250 MIR1303 AU 0.589657 0.5645 0.767426 0.4854 0.4853 Uncertain 5_154065496_G->C 5 154065496 154065496 G C snp 4326.77 1/1 99 170 0 170 1.0 downstream rs4958759 MIR1303 AU 0.760982 0.6855 Uncertain 5_154134775_G->C 5 154134775 154134775 G C snp 56.74 1/1 6 2 0 2 1.0 intronic rs6580116 LARP1 AU NM_015315 exon2 c.77399-35109G>C 1 1 Uncertain 5_154193735_A->G 5 154193735 154193735 A G snp 2578.77 1/1 99 88 0 88 1.0 UTR3 rs863649 LARP1 AU 0.998403 0.9921 Uncertain 5_154268902_C->T 5 154268902 154268902 C T snp 2857.77 1/1 99 111 0 111 1.0 exonic rs816739 GEMIN5 AU synonymous SNV NM_001252156 exon27 c.G4335A p.A1445A 0.950879 0.9782 0.952560 0.9711 0.9666 Uncertain 5_154271391_A->C 5 154271391 154271391 A C snp 1729.77 1/1 99 64 0 64 1.0 intronic rs702743 GEMIN5 AU NM_015465 exon3 c.3533+89A>C 0.957867 0.9782 Uncertain 5_154271948_G->A 5 154271948 154271948 G A snp 5624.77 1/1 99 201 0 201 1.0 exonic rs816736 GEMIN5 AU synonymous SNV NM_001252156 exon25 c.C3756T p.D1252D 0.951478 0.9782 0.952330 0.9713 0.9667 Uncertain 5_154275962_G->A 5 154275962 154275962 G A snp 143.03 1/1 12 5 0 5 1.0 intronic rs816747 GEMIN5 AU NM_015465 exon5 c.8134+59G>A 0.473043 0.8849 Uncertain 5_154278888_C->T 5 154278888 154278888 C T snp 3487.77 1/1 99 136 1 135 0.99 intronic rs816740 GEMIN5 AU NM_015465 exon7 c.11101+18C>T 0.951078 0.9782 0.952560 0.9711 0.9666 Uncertain 5_154287115_T->C 5 154287115 154287115 T C snp 1994.77 1/1 99 69 0 69 1.0 intronic rs6580119 GEMIN5 AU NM_015465 exon13 c.19381-35T>C 0.957867 0.9782 0.963248 0.9742 0.9670 Uncertain 5_154291219_A->G 5 154291219 154291219 A G snp 1742.77 1/1 99 56 0 56 1.0 intronic rs6580121 GEMIN5 AU NM_015465 exon14 c.23517-67A>G 0.951078 0.9782 Uncertain 5_154291409_C->T 5 154291409 154291409 C T snp 2720.77 1/1 99 104 0 104 1.0 exonic rs1974777 GEMIN5 AU nonsynonymous SNV NM_001252156 exon15 c.G2042A p.R681Q 0.816893 0.8919 0.839151 0.8718 0.8926 0.72 T 0.040 P -0.903 T 0.926 T 0.185 D Pathogenic 5_154291496_G->A 5 154291496 154291496 G A snp 806.77 1/1 60 23 0 23 1.0 intronic rs1974776 GEMIN5 AU NM_015465 exon14 c.23689+38G>A 0.816893 0.8919 0.838997 0.8723 0.8922 Uncertain 5_154300940_A->C 5 154300940 154300940 A C snp 3117.77 1/1 99 124 0 124 1.0 exonic rs348739 GEMIN5 AU synonymous SNV NM_001252156 exon10 c.T1422G p.T474T 0.788738 0.8919 0.817469 0.8653 0.8926 Uncertain 5_154306972_T->C 5 154306972 154306972 T C snp 2629.77 1/1 99 81 0 81 1.0 exonic rs2258437 GEMIN5 AU synonymous SNV NM_001252156 exon7 c.A1050G p.L350L 0.816494 0.8909 0.838690 0.8718 0.8923 Uncertain 5_154308282_C->T 5 154308282 154308282 C T snp 1092.77 1/1 78 36 0 36 1.0 intronic rs2644743 GEMIN5 AU NM_015465 exon23 c.40450+63C>T 0.788538 0.8919 Uncertain 5_154308307_G->A 5 154308307 154308307 G A snp 725.77 1/1 54 22 0 22 1.0 intronic rs1035368 GEMIN5 AU NM_015465 exon23 c.40450+88G>A 0.788538 0.8919 Uncertain 5_154311235_T->C 5 154311235 154311235 T C snp 1062.77 1/1 78 29 0 29 1.0 intronic rs2644744 GEMIN5 AU NM_015465 exon24 c.43368+98T>C 0.824281 0.9246 Uncertain 5_154311576_T->C 5 154311576 154311576 T C snp 96.28 1/1 9 3 0 3 1.0 intronic rs2544866 GEMIN5 AU NM_015465 exon25 c.43889-82T>C 0.814696 0.8919 Uncertain 5_154346296_G->A 5 154346296 154346296 G A snp 475.77 0/1 99 51 27 24 0.47 exonic rs3749671 MRPL22 AU nonsynonymous SNV NM_001014990 exon6 c.G220A p.G74S 0.0339457 0.0526 0.023835 0.0344 0.0388 0.02 T 1 D -0.996 T 0.977 D 0.952 D Pathogenic 5_155756414_G->A 5 155756414 155756414 G A snp 1434.77 1/1 99 51 0 51 1.0 intronic rs11740347 SGCD AU,AR 0.507188 0.7887 Uncertain 5_155771579_T->C 5 155771579 155771579 T C snp 2587.77 1/1 99 95 0 95 1.0 exonic rs1801193 SGCD AU,AR synonymous SNV NM_000337 exon3 c.T84C p.Y28Y 0.485423 0.7937 0.377663 0.4660 0.7835 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=criteria_provided\x2c_multiple_submitters\x2c_no_conflicts|criteria_provided\x2c_single_submitter;CLNACC=RCV000041413.6|RCV000128029.1;CLNDSDB=MedGen|MedGen;CLNDSDBID=CN169374|CN221809 Uncertain 5_155771773_A->G 5 155771773 155771773 A G snp 1829.77 1/1 99 56 0 56 1.0 intronic rs4434364 SGCD AU,AR NM_000337 exon3 c.15101+86A>G 0.845248 0.9067 Uncertain 5_155820716_C->A 5 155820716 155820716 C A snp 2625.77 0/1 99 232 120 112 0.48 intronic rs10475703 SGCD AU,AR NM_000337 exon3 c.15101+49029C>A 0.714257 0.7103 0.7677 0.6061 Uncertain 5_156074655_AAATTGA->- 5 156074655 156074661 AAATTGA - indel 1313.73 1/1 42 21 0 21 1.0 intronic rs141437738 SGCD AU,AR NM_000337 exon7 c.317960+109_317960+115delAAATTGA 0.89996 0.9871 Uncertain 5_156074713_A->C 5 156074713 156074713 A C snp 56.74 1/1 6 2 0 2 1.0 intronic rs32055 SGCD AU,AR NM_000337 exon7 c.317960+167A>C 0.937101 0.9871 Uncertain 5_156376430_CCT->- 5 156376430 156376432 CCT - indel 213.87 1/1 15 5 0 5 1.0 intronic rs150412627 TIMD4 AU NM_001146726 exon5 c.30194-231_30194-229delCCT 0.779952 0.8601 Uncertain 5_156376703_A->G 5 156376703 156376703 A G snp 2001.77 1/1 99 77 0 77 1.0 exonic rs6873053 TIMD4 AU nonsynonymous SNV NM_001146726 exon4 c.T719C p.V240A 0.976438 1 0.943795 0.9457 0.9999 0.8 T 0.0 P -1.011 T 0.0 T 0.0 T Pathogenic 5_156381370_G->A 5 156381370 156381370 G A snp 1080.77 1/1 81 34 0 34 1.0 intronic rs7724832 TIMD4 AU NM_001146726 exon7 c.34958-55G>A 0.721046 0.8313 Uncertain 5_156390297_T->C 5 156390297 156390297 T C snp 4528.77 1/1 99 155 0 155 1.0 upstream rs6882076 TIMD4 AU 0.593051 0.7272 Uncertain 5_156464212_T->G 5 156464212 156464212 T G snp 1633.77 1/1 99 45 0 45 1.0 intronic rs4704837 HAVCR1 AD NM_012206 exon3 c.7514-45T>G 0.927716 0.9871 0.865727 0.8893 0.9889 Uncertain 5_156479323_G->C 5 156479323 156479323 G C snp 2808.77 1/1 99 82 0 82 1.0 intronic rs1553318 HAVCR1 AD NM_012206 exon6 c.22628-48G>C 0.63139 0.7857 0.572671 0.6646 0.8137 Uncertain 5_156479424_A->C 5 156479424 156479424 A C snp 7621.77 1/1 99 249 0 249 1.0 exonic rs1553317 HAVCR1 AD synonymous SNV NM_012206 exon3 c.T621G p.T207T 0.91274 0.9861 0.854924 0.8847 0.9891 Uncertain 5_156479509_A->G 5 156479509 156479509 A G snp 8117.77 1/1 99 250 0 250 1.0 exonic rs1553316 HAVCR1 AD nonsynonymous SNV NM_012206 exon3 c.T536C p.L179P 0.91254 0.9851 0.853996 0.8846 0.9892 0.31 T 0.0 P -1.063 T 0.0 T 0.0 T Pathogenic 5_156479558_TTGGAACAGTCGTCA->- 5 156479558 156479572 TTGGAACAGTCGTCA - indel 35742.7 1/1 99 246 0 246 1.0 exonic rs141023871 HAVCR1 AD nonframeshift deletion NM_012206 exon3 c.473_487del p.158_163del 0.582268 0.7629 0.6313 0.7905 ID=COSM1619912;OCCURENCE=1(liver) Uncertain 5_156482099_T->C 5 156482099 156482099 T C snp 684.77 1/1 51 21 0 21 1.0 intronic rs2270925 HAVCR1 AD NM_012206 exon7 c.25468-112T>C 0.623802 0.7897 Uncertain 5_156482101_A->T 5 156482101 156482101 A T snp 717.77 1/1 54 22 0 22 1.0 intronic rs2270924 HAVCR1 AD NM_012206 exon7 c.25468-110A>T 0.626398 0.7907 Uncertain 5_156482459_G->T 5 156482459 156482459 G T snp 3227.04 1/1 99 122 0 122 1.0 exonic rs1809941 HAVCR1 AD synonymous SNV NM_012206 exon2 c.C132A p.S44S 0.909145 0.9861 0.852003 0.8846 0.9891 Uncertain 5_156531561_C->T 5 156531561 156531561 C T snp 602.77 1/1 45 22 0 22 1.0 intronic rs2902306 HAVCR2 AU NM_032782 exon5 c.17564-115C>T 0.882987 0.9841 Uncertain 5_156531736_C->A 5 156531736 156531736 C A snp 1200.77 1/1 87 41 0 41 1.0 exonic rs1036199 HAVCR2 AU nonsynonymous SNV NM_032782 exon3 c.G419T p.R140L 0.883187 0.9841 0.812471 0.8670 0.9884 0.4 T 0.0 P -1.015 T 0.0 T 0.0 T Pathogenic 5_156531865_A->G 5 156531865 156531865 A G snp 190.9 1/1 15 9 0 9 1.0 intronic rs1036200 HAVCR2 AU NM_032782 exon5 c.17648+105A>G 0.883187 0.9841 Uncertain 5_156589399_G->T 5 156589399 156589399 G T snp 646.77 0/1 99 41 17 24 0.59 UTR3 rs2278385 FAM71B AU 0.127596 0.1835 Uncertain 5_156589901_C->T 5 156589901 156589901 C T snp 2182.77 0/1 99 188 102 86 0.46 exonic rs140911228 FAM71B AU nonsynonymous SNV NM_130899 exon2 c.G1375A p.D459N 0.00359425 0.0179 0.000308 0.0028 0.0363 0.04 T 1 N -1.041 T 0.159 T 0.028 T Pathogenic 5_156644775_-->C 5 156644775 156644775 - C indel 3457.73 1/1 99 89 0 89 1.0 intronic rs397944484 ITK AR NM_005546 exon5 c.36888-101insC 1 1 Uncertain 5_156644939_G->A 5 156644939 156644939 G A snp 763.77 0/1 99 51 20 31 0.61 intronic rs246747 ITK AR NM_005546 exon5 c.36929+22G>A 0.200879 0.1984 0.244118 0.2663 0.2007 Uncertain 5_156650052_C->T 5 156650052 156650052 C T snp 495.77 0/1 99 43 26 17 0.4 intronic rs2288502 ITK AR NM_005546 exon6 c.42036+28C>T 0.0676917 0.1696 0.042519 0.0665 0.1727 Uncertain 5_156664978_C->T 5 156664978 156664978 C T snp 267.77 0/1 99 12 4 8 0.67 intronic rs30117 ITK AR NM_005546 exon9 c.57130-140C>T 0.189696 0.1964 Uncertain 5_156667280_G->A 5 156667280 156667280 G A snp 1295.77 0/1 99 125 76 49 0.39 intronic rs6860090 ITK AR NM_005546 exon10 c.59217+75G>A 0.306909 0.2431 Uncertain 5_156668560_G->A 5 156668560 156668560 G A snp 1063.77 0/1 99 86 40 46 0.53 intronic rs149212473 ITK AR NM_005546 exon11 c.60667-95G>A 0.00179712 0.003 Uncertain 5_156679423_G->A 5 156679423 156679423 G A snp 104.77 0/1 99 13 8 5 0.38 intronic rs12055362 ITK AR NM_005546 exon17 c.71628-193G>A 0.11901 0.244 Uncertain 5_156679576_T->C 5 156679576 156679576 T C snp 1904.77 0/1 99 173 87 86 0.5 intronic rs27341 ITK AR NM_005546 exon17 c.71628-40T>C 0.442093 0.3085 0.474012 0.4149 0.3149 Uncertain 5_156712197_C->T 5 156712197 156712197 C T snp 218.77 0/1 99 16 8 8 0.5 intronic rs2288069 CYFIP2 AU 0.289736 0.2976 Uncertain 5_156715652_G->C 5 156715652 156715652 G C snp 969.77 0/1 99 109 66 43 0.39 intronic rs11747736 CYFIP2 AU NM_001291722 exon3 c.1746+1535G>C 0.286142 0.2986 0.2422 0.3284 Uncertain 5_156721863_-->C 5 156721863 156721863 - C indel 4568.73 1/1 99 119 0 119 1.0 exonic rs397712438 CYFIP2 AU frameshift insertion NM_001037333 exon4 c.280dupC p.I93fs 1 1 0.999431 1.0000 1 Pathogenic 5_156723913_T->C 5 156723913 156723913 T C snp 107.77 0/1 99 10 6 4 0.4 intronic rs1600014 CYFIP2 AU NM_001291722 exon5 c.11411+131T>C 0.702476 0.7282 Uncertain 5_156728067_T->C 5 156728067 156728067 T C snp 269.8 1/1 21 8 0 8 1.0 intronic rs454603 CYFIP2 AU NM_001291722 exon6 c.15533+163T>C 0.851837 0.994 Uncertain 5_156734632_G->A 5 156734632 156734632 G A snp 99.28 1/1 9 3 0 3 1.0 intronic rs529619 CYFIP2 AU NM_001291722 exon9 c.22397-136G>A 0.844848 0.994 Uncertain 5_156736611_G->A 5 156736611 156736611 G A snp 75.77 0/1 28 5 1 4 0.8 intronic rs17051932 CYFIP2 AU NM_001291722 exon10 c.24379-139G>A 0.172524 0.2669 Uncertain 5_156736983_G->A 5 156736983 156736983 G A snp 151.77 0/1 99 15 7 8 0.53 intronic rs2288070 CYFIP2 AU NM_001291722 exon10 c.24471+141G>A 0.160343 0.2669 Uncertain 5_156738540_G->A 5 156738540 156738540 G A snp 140.77 0/1 99 9 4 5 0.56 intronic rs2289852 CYFIP2 AU NM_001291722 exon11 c.26300-131G>A 0.17492 0.2679 Uncertain 5_156738830_G->C 5 156738830 156738830 G C snp 1742.77 0/1 99 135 66 69 0.51 intronic rs393178 CYFIP2 AU NM_001291722 exon11 c.26418+41G>C 0.523962 0.6935 0.517945 0.5949 0.7134 Uncertain 5_156741583_A->G 5 156741583 156741583 A G snp 118.77 0/1 99 9 4 5 0.56 intronic rs895309 CYFIP2 AU NM_001291722 exon12 c.29100+112A>G 0.329872 0.2738 Uncertain 5_156747584_C->T 5 156747584 156747584 C T snp 1120.77 0/1 99 101 60 41 0.41 intronic rs7730231 CYFIP2 AU NM_001291722 exon15 c.35291-78C>T 0.331669 0.2738 Uncertain 5_156747614_G->T 5 156747614 156747614 G T snp 1756.77 0/1 99 158 89 69 0.44 intronic rs6555939 CYFIP2 AU NM_001291722 exon15 c.35291-48G>T 0.356629 0.2738 0.351693 0.2849 0.2646 Uncertain 5_156747632_C->G 5 156747632 156747632 C G snp 1901.77 0/1 99 193 111 82 0.42 intronic rs2863198 CYFIP2 AU NM_001291722 exon15 c.35291-30C>G 0.331669 0.2738 0.334210 0.2817 0.2671 Uncertain 5_156747669_A->G 5 156747669 156747669 A G snp 2742.77 0/1 99 250 133 117 0.47 exonic rs1823035 CYFIP2 AU synonymous SNV NM_001291721 exon14 c.A1452G p.L484L 0.33147 0.2738 0.334180 0.2837 0.2707 Uncertain 5_156749797_T->C 5 156749797 156749797 T C snp 153.79 0/1 22 6 1 5 0.83 intronic rs11134691 CYFIP2 AU NM_001291722 exon16 c.37578-152T>C 0.332069 0.2738 Uncertain 5_156750834_-->A 5 156750834 156750834 - A indel 576.73 0/1 99 54 23 31 0.57 intronic rs34143712 CYFIP2 AU NM_001291722 exon17 c.38557-94insA Uncertain 5_156753284_T->C 5 156753284 156753284 T C snp 1146.77 0/1 99 100 56 44 0.44 intronic rs2289850 CYFIP2 AU NM_001291722 exon19 c.40904+9T>C 0.177316 0.2679 0.106235 0.1000 0.2670 Uncertain 5_156760799_G->A 5 156760799 156760799 G A snp 201.77 0/1 99 42 33 9 0.21 intronic rs1900158 CYFIP2 AU NM_001291722 exon22 c.48083+345G>A 0.466254 0.3065 Uncertain 5_156760842_T->C 5 156760842 156760842 T C snp 992.77 0/1 99 103 59 44 0.43 intronic rs1900157 CYFIP2 AU NM_001291722 exon22 c.48083+388T>C 0.277157 0.3006 Uncertain 5_156761018_G->A 5 156761018 156761018 G A snp 1726.77 0/1 99 124 57 67 0.54 intronic rs1900156 CYFIP2 AU NM_001291722 exon22 c.48083+564G>A 0.165535 0.2698 Uncertain 5_156761070_C->T 5 156761070 156761070 C T snp 1000.77 0/1 99 64 26 38 0.59 intronic rs12656549 CYFIP2 AU NM_001291722 exon22 c.48083+616C>T 0.448682 0.3056 Uncertain 5_156762071_A->G 5 156762071 156762071 A G snp 895.77 0/1 99 64 27 37 0.58 intronic rs10077387 CYFIP2 AU NM_001291722 exon22 c.48083+1617A>G 0.466254 0.3065 Uncertain 5_156762245_A->G 5 156762245 156762245 A G snp 854.77 0/1 99 72 37 35 0.49 intronic rs9313545 CYFIP2 AU NM_001291722 exon22 c.48083+1791A>G 0.466454 0.3065 Uncertain 5_156763650_T->C 5 156763650 156763650 T C snp 915.77 0/1 99 61 24 37 0.61 intronic rs10036098 CYFIP2 AU NM_001291722 exon23 c.53693-2414T>C Uncertain 5_156763684_C->T 5 156763684 156763684 C T snp 1360.77 0/1 99 102 43 59 0.58 intronic rs10043769 CYFIP2 AU NM_001291722 exon23 c.53693-2380C>T 0.466254 0.3065 Uncertain 5_156763823_G->A 5 156763823 156763823 G A snp 909.77 0/1 99 98 59 39 0.4 intronic rs10038052 CYFIP2 AU NM_001291722 exon23 c.53693-2241G>A 0.468051 0.3065 Uncertain 5_156763921_C->A 5 156763921 156763921 C A snp 294.77 0/1 99 31 17 14 0.45 intronic rs11134699 CYFIP2 AU NM_001291722 exon23 c.53693-2143C>A 0.466254 0.3065 Uncertain 5_156765981_G->A 5 156765981 156765981 G A snp 134.77 0/1 99 21 14 7 0.33 intronic rs3734026 CYFIP2 AU NM_001291722 exon23 c.53693-83G>A 0.466254 0.3065 Uncertain 5_156766037_A->G 5 156766037 156766037 A G snp 687.77 0/1 99 56 31 25 0.45 intronic rs3734027 CYFIP2 AU NM_001291722 exon23 c.53693-27A>G 0.478922 0.4792 0.4029 Uncertain 5_156766273_G->A 5 156766273 156766273 G A snp 699.77 0/1 99 52 22 30 0.58 intronic rs3734028 CYFIP2 AU NM_001291722 exon23 c.53893+9G>A 0.466254 0.3065 0.474650 0.3976 0.3037 Uncertain 5_156770209_G->A 5 156770209 156770209 G A snp 3230.05 0/1 99 250 121 129 0.52 exonic rs10214194 FNDC9 AU synonymous SNV NM_001001343 exon2 c.C336T p.S112S 0.272963 0.2986 0.223435 0.2029 0.2969 Uncertain 5_156770688_G->A 5 156770688 156770688 G A snp 139.03 1/1 12 4 0 4 1.0 intronic rs10061992 CYFIP2 AU NM_001291722 exon24 c.55794+2523G>A 0.460463 0.3046 Uncertain 5_156786168_C->A 5 156786168 156786168 C A snp 2045.77 0/1 99 180 91 89 0.49 intronic rs2289851 CYFIP2 AU NM_001291722 exon25 c.73785+12C>A 0.265974 0.3016 0.201054 0.2023 0.2993 Uncertain 5_156811670_G->A 5 156811670 156811670 G A snp 468.77 1/1 36 14 0 14 1.0 intronic rs4305634 CYFIP2 AU NM_001291722 exon29 c.97996+1303G>A 0.515176 0.87 Uncertain 5_156816522_G->A 5 156816522 156816522 G A snp 1028.77 0/1 99 80 43 37 0.46 intronic rs889035 CYFIP2 AU NM_001291722 exon30 c.104064+87G>A 0.369808 0.6687 Uncertain 5_156819669_C->T 5 156819669 156819669 C T snp 166.9 1/1 15 5 0 5 1.0 intronic rs12518740 CYFIP2 AU NM_001291722 exon32 c.107469-171C>T 0.653355 0.9742 Uncertain 5_156819936_A->G 5 156819936 156819936 A G snp 2087.77 0/1 99 167 75 92 0.55 exonic rs775042017 CYFIP2 AU synonymous SNV NM_001291721 exon30 c.A3612G p.T1204T 0.0001 0.0021 Uncertain 5_156887133_A->G 5 156887133 156887133 A G snp 1316.77 1/1 96 43 0 43 1.0 UTR5 rs1105282 NIPAL4 AR 0.442492 0.7202 0.317294 0.5 0.7407 Uncertain 5_156894343_C->G 5 156894343 156894343 C G snp 56.74 1/1 6 2 0 2 1.0 intronic rs10063083 NIPAL4 AR NM_001099287 exon3 c.6971+230C>G 0.436701 0.7183 Uncertain 5_156898690_A->G 5 156898690 156898690 A G snp 1055.77 1/1 75 38 0 38 1.0 exonic rs6860507 NIPAL4 AR nonsynonymous SNV NM_001099287 exon5 c.A637G p.R213G 0.504593 0.7232 0.449351 0.5347 0.7397 0.61 T 0.001 P -0.962 T 0.0 T 0.0 T Pathogenic 5_156898899_G->A 5 156898899 156898899 G A snp 935.77 1/1 69 33 0 33 1.0 intronic rs4704869 NIPAL4 AR NM_001099287 exon5 c.11683+74G>A 0.986821 1 Uncertain 5_156898967_G->A 5 156898967 156898967 G A snp 56.74 1/1 6 2 0 2 1.0 intronic rs6879450 NIPAL4 AR NM_001099287 exon5 c.11683+142G>A 0.362819 0.7183 Uncertain 5_156899290_T->C 5 156899290 156899290 T C snp 769.77 1/1 57 19 0 19 1.0 intronic rs9313607 NIPAL4 AR NM_001099287 exon6 c.12197-49T>C 0.715455 0.753 0.692350 0.6699 0.7556 Uncertain 5_156899869_T->C 5 156899869 156899869 T C snp 6329.77 1/1 99 235 0 235 1.0 exonic rs4704870 NIPAL4 AR synonymous SNV NM_001099287 exon6 c.T1302C p.V434V 0.986821 1 0.972282 0.9767 0.9999 Uncertain 5_156904633_C->T 5 156904633 156904633 C T snp 2188.77 1/1 99 93 0 93 1.0 UTR3 rs10404 ADAM19 AU 0.36222 0.7163 Uncertain 5_156904690_T->C 5 156904690 156904690 T C snp 1698.77 0/1 99 155 78 77 0.5 UTR3 rs141359105 ADAM19 AU 0.00299521 0.0139 0.0002 0.0101 Uncertain 5_156916037_-->AAAAAGAA 5 156916037 156916037 - AAAAAGAA indel 1676.73 1/1 54 19 0 19 1.0 intronic rs10674185 ADAM19 AU NM_033274 exon4 c.8153-72insAAAAAGAA 0.490216 0.7242 Uncertain 5_156918987_G->A 5 156918987 156918987 G A snp 874.77 1/1 63 29 0 29 1.0 intronic rs11466790 ADAM19 AU NM_033274 exon7 c.10964+67G>A 0.352436 0.7212 Uncertain 5_156934307_C->A 5 156934307 156934307 C A snp 93.28 1/1 9 3 0 3 1.0 intronic rs868989 ADAM19 AU NM_033274 exon14 c.26192+159C>A 0.783147 0.9196 Uncertain 5_156936549_G->T 5 156936549 156936549 G T snp 699.77 1/1 51 22 0 22 1.0 intronic rs1422794 ADAM19 AU NM_033274 exon15 c.28519+74G>T 0.798323 0.9196 Uncertain 5_157002552_A->G 5 157002552 157002552 A G snp 1102.77 1/1 78 45 0 45 1.0 intronic rs6556092 ADAM19 AU NM_033274 exon23 c.94654-58A>G 0.986821 1 Uncertain 5_157075944_AC->- 5 157075944 157075945 AC - indel 1159.73 0/1 99 77 30 47 0.61 intronic rs10548995 SOX30 AU NM_178424 exon4 c.22557+40_22557+41delAC 0.5378 0.4896 Uncertain 5_157094772_ACAC->- 5 157094772 157094775 ACAC - indel 4470.73 ./1 99 96 1 95 0.99 intergenic rs759166186 SOX30 AU 0.2509 0.2551 Uncertain 5_157094772_AC->- 5 157094772 157094773 AC - indel 4470.73 ./1 99 96 1 95 0.99 intergenic rs36105993 SOX30 AU 0.915535 0.9792 0.5942 0.5510 Uncertain 5_157094779_C->T 5 157094779 157094779 C T snp 1471.77 0/1 99 108 47 61 0.56 intergenic rs756561880 SOX30 AU 0.1045 0.0952 Uncertain 5_157098446_A->G 5 157098446 157098446 A G snp 197.77 0/1 60 9 2 7 0.78 upstream rs11134885 C5orf52 AU 0.517971 0.2867 Uncertain 5_157102063_G->A 5 157102063 157102063 G A snp 1005.77 0/1 99 106 58 48 0.45 intronic rs10051782 C5orf52 AU NM_001145132 exon2 c.3477-36G>A 0.352037 0.2143 0.352387 0.3078 0.2251 Uncertain 5_157102159_G->A 5 157102159 157102159 G A snp 1427.77 0/1 99 135 71 64 0.47 exonic rs10051838 C5orf52 AU nonsynonymous SNV NM_001145132 exon2 c.G272A p.R91Q 0.182308 0.119 0.184625 0.1619 0.1174 0.02 T 0.031 P -0.969 T 0.887 T 0.142 P Pathogenic 5_157102185_A->G 5 157102185 157102185 A G snp 1198.77 0/1 99 100 48 52 0.52 exonic rs6884959 C5orf52 AU nonsynonymous SNV NM_001145132 exon2 c.A298G p.T100A 0.517971 0.2887 0.526281 0.4587 0.2830 1 T 0.000 P -0.994 T 0.0 T 0.0 T Pathogenic 5_157106785_C->T 5 157106785 157106785 C T snp 890.77 0/1 99 60 22 38 0.63 intronic rs6556177 C5orf52 AU NM_001145132 exon3 c.8226-63C>T 0.520367 0.2877 Uncertain 5_157158326_G->C 5 157158326 157158326 G C snp 71.77 0/1 99 7 4 3 0.43 UTR5 rs2270821 THG1L AU 0.438698 0.369 Uncertain 5_157158372_T->C 5 157158372 157158372 T C snp 617.77 0/1 99 44 24 20 0.45 UTR5 rs2270820 THG1L AU 0.438698 0.369 Uncertain 5_157158414_C->A 5 157158414 157158414 C A snp 1185.77 0/1 99 104 60 44 0.42 UTR5 rs2270819 THG1L AU 0.124401 0.1706 0.114870 0.1417 0.1972 Uncertain 5_157158439_C->A 5 157158439 157158439 C A snp 1732.77 0/1 99 166 92 74 0.45 UTR5 rs2270818 THG1L AU 0.124201 0.1706 0.114793 0.1453 0.1941 Uncertain 5_157164889_T->C 5 157164889 157164889 T C snp 703.77 0/1 99 66 35 31 0.47 splicing rs2270813 THG1L AU NM_017872 exon5 c.6446-5T>C 0.653355 0.8185 0.617597 0.6462 0.8118 Pathogenic 5_157164962_T->C 5 157164962 157164962 T C snp 1144.77 0/1 99 108 56 52 0.48 exonic rs2270812 THG1L AU nonsynonymous SNV NM_017872 exon5 c.T695C p.L232P 0.709065 0.8125 0.682685 0.6611 0.8046 1 T 0.987 P -0.951 T 0.0 T 0.0 T Pathogenic 5_157178593_A->- 5 157178593 157178593 A - indel 2498.73 1/1 99 62 0 62 1.0 intronic rs397999675 LSM11 AU NM_173491 exon2 c.7779+56delA 1 1 Uncertain 5_157215027_C->T 5 157215027 157215027 C T snp 181.77 0/1 99 23 15 8 0.35 intronic rs11955293 CLINT1 AU NM_001195556 exon1 c.347+27C>T 0.165535 0.1597 0.110212 0.1522 0.2597 0.872 P Uncertain 5_157230532_C->G 5 157230532 157230532 C G snp 191.77 0/1 99 17 7 10 0.59 intronic rs2270810 CLINT1 AU NM_001195556 exon5 c.16004-125C>G 0.169928 0.1607 Uncertain 5_157232764_C->T 5 157232764 157232764 C T snp 590.77 0/1 99 34 15 19 0.56 intronic rs10515755 CLINT1 AU NM_001195556 exon6 c.18220-109C>T 0.169728 0.1607 Uncertain 5_157241305_C->T 5 157241305 157241305 C T snp 475.77 0/1 99 44 25 19 0.43 splicing rs6882224 CLINT1 AU NM_001195556 exon9 c.26648+4C>T 0.170327 0.1607 0.128666 0.1515 0.2364 Pathogenic 5_157246482_C->G 5 157246482 157246482 C G snp 758.77 0/1 99 54 24 30 0.56 intronic rs3777062 CLINT1 AU NM_001195556 exon11 c.29902+1927C>G 0.169928 0.1607 Uncertain 5_157247160_G->A 5 157247160 157247160 G A snp 311.78 1/1 24 9 0 9 1.0 intronic rs254673 CLINT1 AU NM_001195556 exon11 c.29902+2605G>A 0.621605 0.7887 Uncertain 5_157285888_T->C 5 157285888 157285888 T C snp 156.77 0/1 99 96 59 37 0.39 intronic rs745793313 CLINT1 AU NM_014666 exon12 c.71284-49T>C 0.0669 0.0299 Uncertain 5_157285895_T->C 5 157285895 157285895 T C snp 273.77 0/1 99 95 55 40 0.42 intronic CLINT1 AU NM_014666 exon12 c.71284-42T>C 0.3446 0.3115 Uncertain 5_158140222_G->A 5 158140222 158140222 G A snp 1137.77 1/1 84 34 0 34 1.0 intronic rs3734105 EBF1 AU NM_024007 exon4 c.14037+67G>A 0.828075 0.9643 Uncertain 5_158204425_A->G 5 158204425 158204425 A G snp 451.77 0/1 99 43 23 20 0.47 exonic rs1368298 EBF1 AU synonymous SNV NM_182708 exon9 c.T939C p.Y313Y 0.59345 0.6151 0.562971 0.4822 0.6457 Uncertain 5_158523584_T->C 5 158523584 158523584 T C snp 326.78 1/1 27 10 0 10 1.0 intronic rs6556385 EBF1 AU NM_024007 exon14 c.397296+170T>C 0.825679 0.8839 Uncertain 5_158526271_GCTGCC->- 5 158526271 158526276 GCTGCC - indel 1299.73 1/1 48 16 0 16 1.0 intronic rs10537975 EBF1 AU NM_024007 exon16 c.400234-81_400234-76delGCTGCC 0.922724 0.9038 Uncertain 5_158526534_-->A 5 158526534 158526534 - A indel 149.73 0/1 34 29 4 25 0.86 UTR5 rs372970103 EBF1 AU 0.0819 0.2517 Uncertain 5_158585823_T->G 5 158585823 158585823 T G snp 1569.77 0/1 99 129 64 65 0.5 exonic RNF145 AU nonsynonymous SNV NM_001199380 exon11 c.A1937C p.H646P 0.27 T 1 N -1.005 T 0.0 T 0.0 T Pathogenic 5_158588634_A->- 5 158588634 158588634 A - indel 236.73 0/1 99 30 13 17 0.57 splicing rs769174313 RNF145 AU NM_001199381 exon2 c.2953+4delA 0.0251 0.0731 Pathogenic 5_158588749_G->C 5 158588749 158588749 G C snp 349.78 1/1 27 11 0 11 1.0 intronic rs17056583 RNF145 AU NM_001199381 exon2 c.2953+119G>C 0.139377 0.3562 Uncertain 5_158697481_C->G 5 158697481 158697481 C G snp 1538.77 1/1 99 55 0 55 1.0 intronic rs3734104 UBLCP1 AU NM_145049 exon4 c.1530+28C>G 0.529140 0.5642 0.5437 Uncertain 5_158710419_C->T 5 158710419 158710419 C T snp 457.77 1/1 36 13 0 13 1.0 intronic rs1433046 UBLCP1 AU NM_145049 exon10 c.14424+72C>T 0.486022 0.5129 Uncertain 5_159344461_G->A 5 159344461 159344461 G A snp 2033.77 0/1 99 168 83 85 0.51 exonic rs3729604 ADRA1B AU synonymous SNV NM_000679 exon1 c.G549A p.G183G 0.201877 0.3482 0.171075 0.1858 0.3662 Uncertain 5_159505208_C->A 5 159505208 159505208 C A snp 2242.77 1/1 99 83 0 83 1.0 intergenic rs4360078 TTC1 AU 0.693091 0.7024 0.681201 0.6835 0.6938 Uncertain 5_159507928_G->A 5 159507928 159507928 G A snp 50.74 1/1 6 2 0 2 1.0 intergenic rs4244405 TTC1 AU 0.807109 0.87 Uncertain 5_159516404_C->G 5 159516404 159516404 C G snp 303.78 1/1 24 10 0 10 1.0 intergenic rs4590210 TTC1 AU 0.693291 0.7034 Uncertain 5_159516431_G->C 5 159516431 159516431 G C snp 391.77 1/1 30 14 0 14 1.0 intergenic rs4441910 TTC1 AU 0.693291 0.7034 Uncertain 5_159626244_G->A 5 159626244 159626244 G A snp 1215.77 0/1 99 92 43 49 0.53 intronic rs66840636 FABP6 AU NM_001040442 exon1 c.51+80G>A 0.153155 0.37 Uncertain 5_159640652_G->A 5 159640652 159640652 G A snp 559.77 1/1 42 16 0 16 1.0 intronic rs6556482 FABP6 AU NM_001040442 exon2 c.14629-90G>A 0.899561 0.8562 Uncertain 5_159655322_C->T 5 159655322 159655322 C T snp 224.77 0/1 99 16 8 8 0.5 intronic rs60142392 FABP6 AU NM_001040442 exon3 c.30439-1230C>T Uncertain 5_159659273_C->T 5 159659273 159659273 C T snp 1615.77 0/1 99 125 56 69 0.55 exonic rs1130435 FABP6 AU nonsynonymous SNV NM_001040442 exon4 c.C383T p.T128M 0.464856 0.494 0.421728 0.4651 0.5256 0.08 T 0.001 P -0.922 T 0.26 T 0.02 T ID=CM098233;DIS=Diabetes, type 2, association with;TAG=DP;PUB=17266179 DP Pathogenic 5_159661723_C->T 5 159661723 159661723 C T snp 130.77 0/1 99 23 16 7 0.3 intronic rs2421775 FABP6 AU NM_001445 exon3 c.5262-103C>T 0.464657 0.505 Uncertain 5_159665485_G->C 5 159665485 159665485 G C snp 413.77 1/1 33 11 0 11 1.0 intronic rs10056214 FABP6 AU NM_001445 exon4 c.9048-127G>C 0.88119 1 Uncertain 5_159665523_C->T 5 159665523 159665523 C T snp 1458.77 1/1 99 43 0 43 1.0 intronic rs10071756 FABP6 AU NM_001445 exon4 c.9048-89C>T 0.976837 1 Uncertain 5_159665527_G->A 5 159665527 159665527 G A snp 1618.77 1/1 99 50 0 50 1.0 intronic rs10056227 FABP6 AU NM_001445 exon4 c.9048-85G>A 0.976837 1 Uncertain 5_159665534_A->G 5 159665534 159665534 A G snp 2086.77 1/1 99 63 0 63 1.0 intronic rs10079413 FABP6 AU NM_001445 exon4 c.9048-78A>G 0.972444 1 Uncertain 5_159665599_G->A 5 159665599 159665599 G A snp 4565.77 1/1 99 161 0 161 1.0 intronic rs2277954 FABP6 AU NM_001445 exon4 c.9048-13G>A 0.686502 0.6399 0.770337 0.8165 0.6369 Uncertain 5_159665726_C->T 5 159665726 159665726 C T snp 5135.77 1/1 99 184 1 183 0.99 UTR3 rs10071871 FABP6 AU 0.879593 1 0.866623 Uncertain 5_159665733_C->T 5 159665733 159665733 C T snp 5052.77 1/1 99 179 0 179 1.0 downstream rs2277953 FABP6 AU 0.684704 0.6389 0.783399 Uncertain 5_159707993_T->C 5 159707993 159707993 T C snp 1648.77 1/1 99 56 0 56 1.0 intronic rs59603436 CCNJL AU NM_024565 exon5 c.27361+248T>C 0.192891 0.3591 Uncertain 5_159708072_T->- 5 159708072 159708072 T - indel 122.87 1/1 15 10 0 10 1.0 intronic rs35328886 CCNJL AU NM_024565 exon5 c.27361+327delT 0.382388 0.5079 Uncertain 5_159766379_C->A 5 159766379 159766379 C A snp 102.77 0/1 99 12 8 4 0.33 intergenic rs13360090 CCNJL AU 0.448882 0.4296 Uncertain 5_159766380_A->- 5 159766380 159766380 A - indel 214.73 0/1 57 12 3 9 0.75 intergenic CCNJL AU Uncertain 5_159776047_A->G 5 159776047 159776047 A G snp 113.78 0/1 25 5 1 4 0.8 UTR3 rs9216 C1QTNF2 AU 0.436502 0.4722 Uncertain 5_159776637_C->T 5 159776637 159776637 C T snp 2609.77 0/1 99 213 113 100 0.47 exonic rs10053189 C1QTNF2 AU synonymous SNV NM_031908 exon3 c.G531A p.K177K 0.338658 0.3284 0.393280 0.4186 0.3476 Uncertain 5_159831228_T->C 5 159831228 159831228 T C snp 70.77 0/1 52 6 2 4 0.67 intronic rs4244410 SLU7 AU NM_006425 exon2 c.1155-218T>C 0.422524 0.3413 Uncertain 5_159831664_C->T 5 159831664 159831664 C T snp 97.77 0/1 99 14 7 7 0.5 intronic rs2961939 SLU7 AU NM_006425 exon2 c.1272+101C>T 0.405152 0.1746 Uncertain 5_159831803_A->G 5 159831803 159831803 A G snp 1873.77 0/1 99 126 49 77 0.61 intronic rs2961940 SLU7 AU NM_006425 exon3 c.1524-12A>G 0.310304 0.1746 0.342894 0.3484 0.1676 Uncertain 5_159832250_A->G 5 159832250 159832250 A G snp 526.77 0/1 99 36 16 20 0.56 intronic rs2910182 SLU7 AU NM_006425 exon4 c.1851+108A>G 0.309904 0.1746 Uncertain 5_159835658_A->G 5 159835658 159835658 A G snp 781.77 1/1 57 31 0 31 1.0 exonic rs2961944 SLU7 AU nonsynonymous SNV NM_006425 exon7 c.T686C p.M229T 0.676978 0.7070 0.5359 0.61 T 0.000 P -0.976 T 0.0 T 0.0 T Pathogenic 5_159840688_T->C 5 159840688 159840688 T C snp 1186.77 1/1 87 37 0 37 1.0 intronic rs2961949 SLU7 AU NM_006425 exon12 c.10336+61T>C 0.618211 0.5169 Uncertain 5_159840700_A->C 5 159840700 159840700 A C snp 407.77 0/1 99 24 11 13 0.54 intronic rs12522744 SLU7 AU NM_006425 exon12 c.10336+73A>C 0.308307 0.3423 Uncertain 5_159842465_A->G 5 159842465 159842465 A G snp 174.9 1/1 15 5 0 5 1.0 intronic rs2910190 SLU7 AU NM_006425 exon15 c.12026+148A>G Uncertain 5_159849991_C->T 5 159849991 159849991 C T snp 762.77 0/1 99 59 29 30 0.51 intronic rs2910200 PTTG1 AU NM_004219 exon3 c.581+91C>T 0.208666 0.12 Uncertain 5_159851211_G->C 5 159851211 159851211 G C snp 368.77 0/1 99 24 11 13 0.54 intronic rs2910203 PTTG1 AU NM_004219 exon4 c.1924-32G>C 0.875799 0.626 0.964478 0.9372 0.6014 Uncertain 5_160018019_G->C 5 160018019 160018019 G C snp 440.77 0/1 99 45 30 15 0.33 intronic rs529783151 ATP10B AU NM_025153 exon4 c.25606-46G>C Uncertain 5_160018020_T->A 5 160018020 160018020 T A snp 443.77 0/1 99 46 31 15 0.33 intronic rs762043285 ATP10B AU NM_025153 exon4 c.25606-45T>A 1.903e-05 0 Uncertain 5_160018022_C->A 5 160018022 160018022 C A snp 416.77 0/1 99 50 35 15 0.3 intronic rs769907284 ATP10B AU NM_025153 exon4 c.25606-43C>A 1.903e-05 0 Uncertain 5_160018024_TCTCTGC->- 5 160018024 160018030 TCTCTGC - indel 1155.73 0/1 99 50 35 15 0.3 intronic rs758820303 ATP10B AU NM_025153 exon4 c.25606-41_25606-35delTCTCTGC 0.024978 1.718e-05 0 Uncertain 5_160034042_G->A 5 160034042 160034042 G A snp 1594.77 0/1 99 134 68 66 0.49 exonic rs80241453 ATP10B AU nonsynonymous SNV NM_025153 exon19 c.C2890T p.R964C 0.0197684 0.0903 0.000663 0.0106 0.0906 1 N -0.903 T 0.68 T 0.043 P Pathogenic 5_160039687_T->C 5 160039687 160039687 T C snp 696.77 0/1 99 57 30 27 0.47 intronic rs2302962 ATP10B AU NM_025153 exon9 c.47288-60T>C 0.0716853 0.2034 Uncertain 5_160043108_-->T 5 160043108 160043108 - T indel 132.77 1/1 21 8 0 8 1.0 intronic rs113179038 ATP10B AU NM_025153 exon10 c.50512+137insT 0.794129 0.8244 Uncertain 5_160043109_C->T 5 160043109 160043109 C T snp 309.78 1/1 24 8 0 8 1.0 intronic rs17052845 ATP10B AU NM_025153 exon10 c.50512+138C>T 0.794129 0.8244 Uncertain 5_160044855_G->A 5 160044855 160044855 G A snp 5035.77 1/1 99 186 0 186 1.0 intronic rs1363199 ATP10B AU NM_025153 exon11 c.52411-15G>A 0.739816 0.8214 0.764056 0.7664 0.8424 Uncertain 5_160047265_C->G 5 160047265 160047265 C G snp 298.78 1/1 24 8 0 8 1.0 intronic rs6862674 ATP10B AU NM_025153 exon12 c.54894-88C>G 0.766773 0.8234 Uncertain 5_160049355_C->T 5 160049355 160049355 C T snp 433.77 1/1 33 14 0 14 1.0 intronic rs2032804 ATP10B AU NM_025153 exon13 c.56941-45C>T 0.779153 0.8244 0.801699 0.7934 0.8592 Uncertain 5_160063527_T->C 5 160063527 160063527 T C snp 175.9 1/1 15 5 0 5 1.0 intronic rs3828608 ATP10B AU NM_025153 exon16 c.70857+211T>C 0.896765 0.8929 Uncertain 5_160097429_T->C 5 160097429 160097429 T C snp 3037.77 1/1 99 107 0 107 1.0 intronic rs3828604 ATP10B AU NM_025153 exon20 c.105010-40T>C 0.878195 0.8938 0.886178 0.8566 0.8825 Uncertain 5_160097453_A->C 5 160097453 160097453 A C snp 3545.77 1/1 99 130 0 130 1.0 intronic rs1990888 ATP10B AU NM_025153 exon20 c.105010-16A>C 0.877796 0.8938 0.886367 0.8566 0.8826 Uncertain 5_160097496_A->G 5 160097496 160097496 A G snp 4020.77 1/1 99 142 0 142 1.0 exonic rs958912 ATP10B AU nonsynonymous SNV NM_025153 exon7 c.T649C p.C217R 0.861621 0.8938 0.852665 0.8212 0.8820 0.002 P -0.977 T 0.0 T 0.0 T Pathogenic 5_160097632_G->A 5 160097632 160097632 G A snp 1537.77 1/1 99 49 0 49 1.0 exonic rs958911 ATP10B AU synonymous SNV NM_025153 exon7 c.C513T p.R171R 0.877596 0.8929 0.887532 0.8565 0.8826 Uncertain 5_160114730_C->T 5 160114730 160114730 C T snp 1449.77 1/1 99 45 0 45 1.0 intronic rs72818543 ATP10B AU NM_025153 exon22 c.122347-76C>T 0.0896565 0.2292 Uncertain 5_160212816_C->T 5 160212816 160212816 C T snp 430.77 0/1 75 15 3 12 0.8 splicing rs7714680 ATP10B AU NM_025153 exon25 c.220351+6C>T 0.482428 0.5933 Pathogenic 5_160972444_A->- 5 160972444 160972444 A - indel 43.73 0/1 51 19 5 14 0.74 intronic rs56952727 GABRB2 AU NM_021911 exon8 c.251213+144delA Uncertain 5_161114522_T->C 5 161114522 161114522 T C snp 5325.77 1/1 99 207 1 206 1.0 intronic rs4454083 GABRA6 AU NM_000811 exon3 c.1014+513T>C 0.261981 0.2381 0.2780 0.2273 0.006 P -0.951 T Uncertain 5_161116903_C->A 5 161116903 161116903 C A snp 1458.77 1/1 99 44 0 44 1.0 intronic rs4921402 GABRA6 AU NM_000811 exon6 c.3790+118C>A Uncertain 5_161116942_A->G 5 161116942 161116942 A G snp 619.77 1/1 48 16 0 16 1.0 intronic rs3811992 GABRA6 AU NM_000811 exon6 c.3790+157A>G 0.398163 0.3185 Uncertain 5_161119071_G->T 5 161119071 161119071 G T snp 6259.77 1/1 99 231 1 230 1.0 exonic rs12522663 GABRA6 AU synonymous SNV NM_000811 exon8 c.G951T p.A317A 0.968251 0.999 0.965477 0.9902 1 Uncertain 5_161119125_C->G 5 161119125 161119125 C G snp 6027.77 1/1 99 210 0 210 1.0 exonic rs13184586 GABRA6 AU synonymous SNV NM_000811 exon8 c.C1005G p.A335A 0.401158 0.3185 0.488082 0.4854 0.2854 Uncertain 5_161128409_A->C 5 161128409 161128409 A C snp 216.84 1/1 18 6 0 6 1.0 intronic rs3811991 GABRA6 AU NM_000811 exon9 c.15508-94A>C 0.47484 0.3185 Uncertain 5_161128761_C->G 5 161128761 161128761 C G snp 5678.77 1/1 99 211 0 211 1.0 exonic rs4277944 GABRA6 AU synonymous SNV NM_000811 exon9 c.C1344G p.V448V 0.962018 0.9893 1 Uncertain 5_161128914_C->T 5 161128914 161128914 C T snp 542.77 1/1 42 14 0 14 1.0 UTR3 rs3219151 GABRA6 AU 0.430112 0.3185 ID=CR1314350;DIS=Schizophrenia, decreased risk;TAG=DP;PUB=23332465 DP Uncertain 5_161277899_A->T 5 161277899 161277899 A T snp 992.77 0/1 99 85 45 40 0.47 intronic rs41275339 GABRA1 AU,AD NM_001127643 exon3 c.74+9A>T 0.0708866 0.0774 0.051361 0.0736 0.0859 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000117110.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 5_161302728_G->A 5 161302728 161302728 G A snp 2347.77 1/1 99 74 0 74 1.0 intronic rs4260711 GABRA1 AU,AD NM_001127643 exon7 c.24832+80G>A 0.495607 0.5784 Uncertain 5_161318132_A->G 5 161318132 161318132 A G snp 760.77 0/1 99 49 22 27 0.55 intronic rs10051659 GABRA1 AU,AD NM_001127643 exon9 c.40240+76A>G 0.221645 0.2639 Uncertain 5_161322654_T->C 5 161322654 161322654 T C snp 1120.77 0/1 99 72 32 40 0.56 intronic rs78782356 GABRA1 AU,AD NM_001127643 exon10 c.44855-17T>C 0.076877 0.0764 0.052437 0.1076 0.1178 Uncertain 5_161322889_G->A 5 161322889 161322889 G A snp 879.77 0/1 99 81 45 36 0.44 intronic rs2279020 GABRA1 AU,AD NM_001127643 exon10 c.45058+15G>A 0.596046 0.499 0.637859 0.6191 0.4337 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000079317.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 5_161510796_T->C 5 161510796 161510796 T C snp 59.74 1/1 6 3 0 3 1.0 intronic rs209350 GABRG2 AD NM_198903 exon2 c.25828-10037T>C 0.756989 0.6548 Uncertain 5_161522318_G->A 5 161522318 161522318 G A snp 82.28 1/1 9 3 0 3 1.0 intronic rs2963170 GABRG2 AD NM_198903 exon3 c.27495-182G>A 0.999201 1 Uncertain 5_161522556_C->T 5 161522556 161522556 C T snp 1626.77 0/1 99 159 87 72 0.45 exonic rs11135176 GABRG2 AD synonymous SNV NM_000816 exon3 c.C315T p.N105N 0.134984 0.2242 0.061366 0.1255 0.2226 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000117113.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 5_161528280_C->T 5 161528280 161528280 C T snp 1938.77 0/1 99 206 119 87 0.42 exonic rs211037 GABRG2 AD synonymous SNV NM_000816 exon5 c.C588T p.N196N 0.371605 0.6012 0.307089 0.2854 0.5991 ID=CM1310431;DIS=Epilepsy, susceptibility to;TAG=DP;PUB=24061200 DP Uncertain 5_161576418_C->A 5 161576418 161576418 C A snp 758.77 0/1 99 40 17 23 0.57 intronic rs211014 GABRG2 AD NM_198903 exon9 c.81314+99C>A 0.354633 0.5169 Uncertain 5_161579441_A->G 5 161579441 161579441 A G snp 618.77 0/1 99 59 31 28 0.47 intronic rs211013 GABRG2 AD NM_198903 exon11 c.85093-657A>G 0.54972 0.6944 0.501221 0.4858 0.6872 Uncertain 5_162866548_T->C 5 162866548 162866548 T C snp 903.77 0/1 99 61 26 35 0.57 intronic rs299322 CCNG1 AU NM_004060 exon2 c.264+22T>C 0.423522 0.5377 0.385958 0.3575 0.5631 Uncertain 5_162866616_-->G 5 162866616 162866616 - G indel 430.73 0/1 99 19 7 12 0.63 intronic rs2069343 CCNG1 AU NM_004060 exon2 c.264+90insG 0.420128 0.5377 Uncertain 5_162870636_G->C 5 162870636 162870636 G C snp 352.77 0/1 99 51 33 18 0.35 intronic rs2069367 CCNG1 AU NM_004060 exon7 c.4417-43G>C 0.0405351 0.1657 0.0070 0.1970 Uncertain 5_162890953_G->A 5 162890953 162890953 G A snp 404.77 1/1 30 16 0 16 1.0 exonic rs380101 HMMR AD synonymous SNV NM_001142556 exon2 c.G138A p.Q46Q 1 1 1.0000 1 Uncertain 5_162891894_G->A 5 162891894 162891894 G A snp 157.77 0/1 99 16 8 8 0.5 intronic rs3756648 HMMR AD NM_012485 exon3 c.4110+86G>A Uncertain 5_162896856_T->C 5 162896856 162896856 T C snp 331.77 0/1 99 26 13 13 0.5 intronic rs299283 HMMR AD NM_001142557 exon2 c.9103+21T>C 0.422524 0.5288 0.387283 0.3610 0.5631 Uncertain 5_162898565_G->C 5 162898565 162898565 G C snp 213.77 0/1 99 18 11 7 0.39 intronic rs169920 HMMR AD NM_001142557 exon4 c.10737+96G>C 0.418331 0.5288 Uncertain 5_162902516_T->C 5 162902516 162902516 T C snp 695.77 0/1 99 79 45 34 0.43 exonic rs299290 HMMR AD nonsynonymous SNV NM_001142557 exon8 c.T845C p.V282A 0.3127 0.4841 0.263571 0.2839 0.5047 0.75 T 0.0 P -0.937 T 0.047 T 0.034 T Pathogenic 5_162902707_G->A 5 162902707 162902707 G A snp 870.77 0/1 99 62 27 35 0.56 intronic rs299291 HMMR AD NM_001142557 exon8 c.14946+29G>A 0.421925 0.5288 0.376955 0.3791 0.5806 Uncertain 5_162938941_T->- 5 162938941 162938941 T - indel 906.73 0/1 99 45 21 24 0.53 intronic rs11307015 MAT2B AU NM_182796 exon2 c.8607-66delT 0.432308 0.7659 Uncertain 5_162940739_G->A 5 162940739 162940739 G A snp 854.77 1/1 63 25 0 25 1.0 intronic rs964945 MAT2B AU NM_182796 exon3 c.10275+64G>A 0.988219 1 Uncertain 5_162944709_A->G 5 162944709 162944709 A G snp 2269.77 0/1 99 190 96 94 0.49 intronic rs7733775 MAT2B AU NM_182796 exon6 c.14280+29A>G 0.538139 0.8313 0.473551 0.5954 0.8089 Uncertain 5_167182055_G->A 5 167182055 167182055 G A snp 1337.77 1/1 96 48 0 48 1.0 intronic rs1862875 TENM2 AU NM_001122679 exon3 c.591148-120935G>A 0.746406 0.995 0.724242 0.8252 0.9959 Uncertain 5_167303239_G->A 5 167303239 167303239 G A snp 2782.77 1/1 99 93 0 93 1.0 intronic rs1592800 TENM2 AU NM_001122679 exon3 c.591358+39G>A 0.172125 0.4077 0.087385 0.1381 0.3738 Uncertain 5_167303317_G->A 5 167303317 167303317 G A snp 1044.77 1/1 78 32 0 32 1.0 intronic rs1862198 TENM2 AU NM_001122679 exon3 c.591358+117G>A Uncertain 5_167420296_T->G 5 167420296 167420296 T G snp 34.77 0/1 63 5 3 2 0.4 intronic rs11955430 TENM2 AU NM_001122679 exon5 c.708345+109T>G 0.383786 0.373 Uncertain 5_167489050_T->- 5 167489050 167489050 T - indel 135.73 0/1 35 11 3 8 0.73 intronic rs72549552 TENM2 AU NM_001122679 exon7 c.777222-14delT 0.304229 0.2861 0.4621 Uncertain 5_167554106_G->A 5 167554106 167554106 G A snp 304.77 0/1 99 16 7 9 0.56 intronic rs1560650 TENM2 AU NM_001122679 exon12 c.842102+162G>A 0.522165 0.9355 Uncertain 5_167566600_T->A 5 167566600 167566600 T A snp 2413.77 1/1 99 87 0 87 1.0 intronic rs1432822 TENM2 AU NM_001122679 exon12 c.842102+12656T>A 0.867013 0.997 Uncertain 5_167576239_A->T 5 167576239 167576239 A T snp 178.77 0/1 99 13 7 6 0.46 intronic rs10040595 TENM2 AU NM_001122679 exon13 c.877773-13376A>T 0.321086 0.0427 Uncertain 5_167576513_-->G 5 167576513 167576513 - G indel 3949.73 1/1 99 88 0 88 1.0 intronic rs35438448 TENM2 AU NM_001122679 exon13 c.877773-13102insG 0.665935 0.6835 Uncertain 5_167589814_G->A 5 167589814 167589814 G A snp 1240.77 0/1 99 117 60 57 0.49 intronic rs9637846 TENM2 AU NM_001122679 exon13 c.877920+52G>A 0.253794 0.5109 0.154908 Uncertain 5_167589932_G->C 5 167589932 167589932 G C snp 199.77 0/1 99 15 6 9 0.6 intronic rs1560649 TENM2 AU NM_001122679 exon13 c.877920+170G>C 0.290335 0.0317 Uncertain 5_167622107_G->T 5 167622107 167622107 G T snp 1108.77 0/1 99 68 24 44 0.65 intronic rs1472355 TENM2 AU NM_001122679 exon15 c.910338-73G>T 0.167532 0.0248 Uncertain 5_167625771_G->C 5 167625771 167625771 G C snp 372.77 0/1 99 41 24 17 0.41 intronic rs1874460 TENM2 AU NM_001122679 exon16 c.914015-86G>C 0.398762 0.6409 Uncertain 5_167645010_T->C 5 167645010 167645010 T C snp 270.77 0/1 48 10 2 8 0.8 intronic rs3756603 TENM2 AU NM_001122679 exon23 c.933287-119T>C 0.141973 0.2649 Uncertain 5_167645888_T->C 5 167645888 167645888 T C snp 1329.77 0/1 99 125 67 58 0.46 exonic rs1363560 TENM2 AU synonymous SNV NM_001122679 exon23 c.T4965C p.N1655N 0.409744 0.5942 0.341888 0.2770 0.5717 Uncertain 5_167653364_T->C 5 167653364 167653364 T C snp 1587.77 1/1 99 51 0 51 1.0 intronic rs3733985 TENM2 AU NM_001122679 exon24 c.941426+96T>C 0.665335 0.6438 Uncertain 5_167653394_A->G 5 167653394 167653394 A G snp 732.77 1/1 54 20 0 20 1.0 intronic rs3733986 TENM2 AU NM_001122679 exon24 c.941426+126A>G 0.671326 0.6419 Uncertain 5_167824840_T->C 5 167824840 167824840 T C snp 680.77 0/1 99 60 26 34 0.57 intronic rs10064053 WWC1 AU NM_001161661 exon4 c.105648+35T>C 0.147364 0.0665 0.170537 0.1320 0.0671 Uncertain 5_167835390_A->G 5 167835390 167835390 A G snp 257.77 0/1 99 16 8 8 0.5 intronic rs2241368 WWC1 AU NM_001161661 exon7 c.116354-121A>G 0.216853 0.0685 Uncertain 5_167835766_T->C 5 167835766 167835766 T C snp 970.77 1/1 72 25 0 25 1.0 intronic rs6887919 WWC1 AU NM_001161661 exon7 c.116501+108T>C 0.641973 0.7133 Uncertain 5_167837202_C->T 5 167837202 167837202 C T snp 220.84 1/1 18 7 0 7 1.0 intronic rs888888 WWC1 AU NM_001161661 exon8 c.117843+202C>T 0.552716 0.6746 Uncertain 5_167850748_A->G 5 167850748 167850748 A G snp 7275.77 1/1 99 250 0 250 1.0 exonic rs12054944 WWC1 AU synonymous SNV NM_015238 exon11 c.A1485G p.S495S 0.666733 0.9921 0.499846 0.5444 0.9953 1.000 P -1.039 T Likely benign 5_167851168_A->G 5 167851168 167851168 A G snp 1222.77 1/1 90 32 0 32 1.0 intronic rs4976606 WWC1 AU NM_001161661 exon11 c.131916+95A>G 0.665735 0.9931 Uncertain 5_167855197_T->C 5 167855197 167855197 T C snp 817.77 0/1 99 42 13 29 0.69 intronic rs7735281 WWC1 AU NM_001161661 exon12 c.135989+51T>C 0.144569 0.1677 0.132862 0.1145 0.1630 Uncertain 5_167855568_T->A 5 167855568 167855568 T A snp 86.28 1/1 9 3 0 3 1.0 intronic rs3733982 WWC1 AU NM_001161661 exon13 c.136554-143T>A 0.585863 0.8224 Uncertain 5_167858463_CTGGCTGG->- 5 167858463 167858470 CTGGCTGG - indel 4469.73 ./1 99 176 1 175 0.99 intronic rs11279828 WWC1 AU NM_001161661 exon15 c.139292+14_139292+21delCTGGCTGG 0.952276 0.9296 0.5059 0.7195 Uncertain 5_167858463_CTGG->- 5 167858463 167858466 CTGG - indel 4469.73 ./1 99 176 1 175 0.99 intronic rs377710964 WWC1 AU NM_001161661 exon15 c.139292+14_139292+17delCTGG 0.3208 0.1452 Uncertain 5_167868779_A->G 5 167868779 167868779 A G snp 1351.77 0/1 99 118 57 61 0.52 exonic rs3733981 WWC1 AU synonymous SNV NM_015238 exon16 c.A2373G p.K791K 0.547724 0.6151 0.463171 0.4084 0.6018 1.000 P -1.006 T Likely benign 5_167868809_C->T 5 167868809 167868809 C T snp 1133.77 0/1 99 99 48 51 0.52 exonic rs3733980 WWC1 AU synonymous SNV NM_015238 exon16 c.C2403T p.V801V 0.547524 0.6131 0.462786 0.4084 0.5993 0.003 P -1.024 T Likely benign 5_167868930_G->A 5 167868930 167868930 G A snp 343.78 1/1 27 9 0 9 1.0 intronic rs3948557 WWC1 AU NM_001161661 exon16 c.149682+91G>A 0.78095 0.995 Uncertain 5_167881030_GGA->- 5 167881030 167881032 GGA - indel 449.73 0/1 99 25 13 12 0.48 exonic rs111457550 WWC1 AU nonframeshift deletion NM_015238 exon18 c.2583_2585del p.861_862del 0.341773 0.2824 0.4997 Uncertain 5_167913510_G->A 5 167913510 167913510 G A snp 2889.77 1/1 99 108 0 108 1.0 exonic rs244903 RARS AR nonsynonymous SNV NM_002887 exon1 c.G7A p.V3I 0.680312 0.8879 0.620385 0.6021 0.8709 0.17 T 1.0 P -0.985 T 0.001 T 0.0 T Pathogenic 5_167913603_C->T 5 167913603 167913603 C T snp 1462.77 1/1 99 53 0 53 1.0 intronic rs193466 RARS AR NM_002887 exon1 c.45+55C>T 0.560503 0.7232 0.451818 Uncertain 5_167913662_AG->- 5 167913662 167913663 AG - indel 462.73 0/1 99 19 8 11 0.58 intronic RARS AR NM_002887 exon1 c.45+114_45+115delAG 0.13099 0.0863 Uncertain 5_167919623_T->A 5 167919623 167919623 T A snp 1157.77 1/1 87 33 0 33 1.0 intronic rs184957 RARS AR NM_002887 exon3 c.6160-40T>A 0.630192 0.7937 0.589819 0.5876 0.7660 Uncertain 5_167921047_C->G 5 167921047 167921047 C G snp 381.77 1/1 30 11 0 11 1.0 intronic rs2432642 RARS AR NM_002887 exon4 c.7504+40C>G 0.636581 0.7937 0.595894 0.5869 0.7670 Uncertain 5_167933673_-->T 5 167933673 167933673 - T indel 364.73 0/1 99 34 14 20 0.59 intronic rs34318878 RARS AR NM_002887 exon11 c.20223-53insT Uncertain 5_167937801_A->C 5 167937801 167937801 A C snp 373.77 0/1 99 28 15 13 0.46 intronic rs41283167 RARS AR NM_002887 exon12 c.24188+110A>C 0.0323482 0.0863 Uncertain 5_167943827_G->A 5 167943827 167943827 G A snp 4595.77 1/1 99 159 0 159 1.0 exonic rs653568 RARS AR synonymous SNV NM_002887 exon13 c.G1497A p.A499A 0.784145 0.9415 0.727664 0.6771 0.9351 Uncertain 5_167956362_C->G 5 167956362 167956362 C G snp 62.74 1/1 6 4 0 4 1.0 upstream rs1870053 FBLL1 AU 0.667931 0.8929 Uncertain 5_167956719_C->A 5 167956719 167956719 C A snp 385.77 0/1 99 35 17 18 0.51 ncRNA_exonic rs111777993 FBLL1 AU 0.30631 0.5248 0.5351 0.6875 Uncertain 5_167957055_G->A 5 167957055 167957055 G A snp 3049.77 0/1 99 248 120 128 0.52 ncRNA_exonic rs12654410 FBLL1 AU 0.301917 0.5248 0.206457 0.2601 0.5388 Uncertain 5_167957554_G->A 5 167957554 167957554 G A snp 439.77 0/1 99 31 15 16 0.52 ncRNA_exonic rs3733977 FBLL1 AU 0.255791 0.5268 0.171678 0.2400 0.5357 Uncertain 5_167984721_T->C 5 167984721 167984721 T C snp 460.77 0/1 99 49 31 18 0.37 intronic rs13185224 PANK3 AU NM_024594 exon1 c.51+95T>C 0.221645 0.4653 Uncertain 5_167996014_A->G 5 167996014 167996014 A G snp 99.77 0/1 99 11 7 4 0.36 intronic rs6876924 PANK3 AU NM_024594 exon6 c.11428+11A>G 0.204473 0.3998 0.1070 0.1286 Uncertain 5_168093522_G->A 5 168093522 168093522 G A snp 435.77 0/1 99 39 22 17 0.44 exonic rs1048307 SLIT3 AU synonymous SNV NM_003062 exon36 c.C4509T p.D1503D 0.20607 0.4206 0.149700 0.2192 0.4239 Uncertain 5_168097122_T->G 5 168097122 168097122 T G snp 37.77 0/1 66 4 2 2 0.5 intronic rs2303002 SLIT3 AU NM_001271946 exon2 c.3538+126T>G 0.21226 0.4365 Uncertain 5_168098463_A->G 5 168098463 168098463 A G snp 3903.77 1/1 99 140 0 140 1.0 exonic rs292486 SLIT3 AU synonymous SNV NM_003062 exon34 c.T3867C p.S1289S 0.988219 1 0.971013 0.9737 1 Uncertain 5_168123398_T->C 5 168123398 168123398 T C snp 873.77 0/1 99 79 44 35 0.44 exonic rs2305993 SLIT3 AU nonsynonymous SNV NM_003062 exon28 c.A2981G p.E994G 0.00179712 0.0079 0.000077 0.0018 0.0140 0.15 T 1 D -0.295 T 0.004 T 0.008 T ID=COSM371452;OCCURENCE=1(lung) Pathogenic 5_168175086_A->G 5 168175086 168175086 A G snp 204.84 1/1 18 6 0 6 1.0 intronic rs11741722 SLIT3 AU NM_001271946 exon17 c.81848-220A>G 0.165136 0.2679 Uncertain 5_168175205_C->G 5 168175205 168175205 C G snp 2773.77 1/1 99 90 0 90 1.0 intronic rs11748347 SLIT3 AU NM_001271946 exon17 c.81848-101C>G Uncertain 5_168175291_A->G 5 168175291 168175291 A G snp 5248.77 1/1 99 199 0 199 1.0 intronic rs3822657 SLIT3 AU NM_001271946 exon17 c.81848-15A>G 0.166334 0.2679 0.125865 0.1801 0.2868 Uncertain 5_168176517_A->G 5 168176517 168176517 A G snp 4870.77 1/1 99 180 0 180 1.0 exonic rs2304035 SLIT3 AU synonymous SNV NM_003062 exon19 c.T2097C p.I699I 0.5 0.496 0.430494 0.4451 0.4863 Uncertain 5_168179922_T->C 5 168179922 168179922 T C snp 1894.77 1/1 99 58 0 58 1.0 intronic rs10039601 SLIT3 AU NM_001271946 exon19 c.86501-37T>C 0.294329 0.2302 0.291558 0.2523 0.2478 Uncertain 5_168180081_C->T 5 168180081 168180081 C T snp 5034.77 1/1 99 190 0 190 1.0 exonic rs10036727 SLIT3 AU nonsynonymous SNV NM_003062 exon18 c.G1852A p.G618S 0.570887 0.5258 0.574350 0.5383 0.5232 1 T 0.001 P -0.935 T 0.0 T 0.001 T Pathogenic 5_168187760_G->C 5 168187760 168187760 G C snp 404.77 1/1 30 16 0 16 1.0 intronic rs2288797 SLIT3 AU NM_001271946 exon21 c.94408-106G>C 0.547125 0.7341 Uncertain 5_168188048_A->T 5 168188048 168188048 A T snp 73.77 0/1 99 8 4 4 0.5 intronic rs7725649 SLIT3 AU NM_001271946 exon21 c.94483+107A>T 0.489617 0.6518 Uncertain 5_168189501_C->T 5 168189501 168189501 C T snp 825.77 0/1 99 67 31 36 0.54 intronic rs2288796 SLIT3 AU NM_001271946 exon22 c.96085-42C>T 0.58746 0.6359 0.542750 0.5462 0.6244 Uncertain 5_168195356_G->A 5 168195356 168195356 G A snp 815.77 0/1 99 92 56 36 0.39 intronic rs11134527 SLIT3 AU NM_001271946 exon23 c.106327-4429G>A 0.346246 0.5694 ID=CR131952;DIS=Cervical carcinoma, decreased risk;TAG=DP;PUB=23320911 DP Uncertain 5_168195432_-->G 5 168195432 168195432 - G indel 275.75 1/1 24 13 0 13 1.0 intronic rs11424849 SLIT3 AU NM_001271946 exon23 c.106327-4353insG 0.972244 1 Uncertain 5_168212951_A->G 5 168212951 168212951 A G snp 1256.77 0/1 99 128 71 57 0.45 exonic rs891921 SLIT3 AU nonsynonymous SNV NM_003062 exon12 c.T1112C p.V371A 0.930312 0.9593 0.928495 0.9062 0.9621 0.06 T 0.000 P -0.948 T 0.0 T 0.001 T Pathogenic 5_168222803_A->C 5 168222803 168222803 A C snp 123.78 0/1 27 5 1 4 0.8 intronic rs2174427 SLIT3 AU NM_001271946 exon27 c.129125+220A>C 0.688898 0.6796 Uncertain 5_168620435_C->A 5 168620435 168620435 C A snp 692.77 0/1 99 65 39 26 0.4 intronic rs11744813 SLIT3 AU NM_001271946 exon33 c.527024-47C>A 0.198682 0.4464 0.130248 0.1899 0.4591 Uncertain 5_168620720_C->T 5 168620720 168620720 C T snp 126.77 0/1 99 19 14 5 0.26 intronic rs79192318 SLIT3 AU NM_001271946 exon33 c.527096+166C>T 0.191094 0.4464 Uncertain 5_168690612_A->G 5 168690612 168690612 A G snp 1941.77 1/1 99 74 0 74 1.0 ncRNA_exonic rs62376934 MIR585 AU 0.808506 0.881 0.732100 0.7397 0.8883 Uncertain 5_168727468_G->C 5 168727468 168727468 G C snp 254.77 0/1 99 25 14 11 0.44 intronic rs747295261 SLIT3 AU NM_001271946 exon36 c.634058-48G>C 0 0 Uncertain 5_169021610_C->T 5 169021610 169021610 C T snp 2090.77 0/1 99 159 77 82 0.52 exonic rs4493692 SPDL1 AU synonymous SNV NM_017785 exon7 c.C816T p.L272L 0.638778 0.7331 0.643088 0.6572 0.7333 1.000 P -0.983 T Likely benign 5_169025789_G->A 5 169025789 169025789 G A snp 56.74 1/1 6 2 0 2 1.0 intronic rs3815729 SPDL1 AU NM_017785 exon10 c.10555-186G>A 0.491214 0.6964 Uncertain 5_169028146_G->C 5 169028146 169028146 G C snp 108.77 0/1 99 9 5 4 0.44 intronic rs3797712 SPDL1 AU NM_017785 exon11 c.12863-137G>C 0.648762 0.7321 Uncertain 5_169028481_T->C 5 169028481 169028481 T C snp 3057.77 0/1 99 250 127 123 0.49 exonic rs3797713 SPDL1 AU nonsynonymous SNV NM_017785 exon11 c.T1522C p.Y508H 0.656749 0.7331 0.656851 0.6614 0.7351 0.57 T 0.0 P -0.985 T 0.0 T 0.0 T Pathogenic 5_169031150_T->C 5 169031150 169031150 T C snp 837.77 0/1 99 57 23 34 0.6 exonic rs3777084 SPDL1 AU nonsynonymous SNV NM_017785 exon12 c.T1757C p.L586S 0.656749 0.7331 0.656620 0.6613 0.7340 0.89 T 0.000 P -0.970 T 0.0 T 0.0 T Pathogenic 5_169031218_G->T 5 169031218 169031218 G T snp 377.77 0/1 99 35 19 16 0.46 UTR3 rs2042248 SPDL1 AU 0.676717 0.7331 0.677687 0.6677 0.7348 Uncertain 5_169096207_-->AAAAC 5 169096207 169096207 - AAAAC indel 679.73 0/1 99 25 14 11 0.44 intronic rs139378784 DOCK2 AR NM_004946 exon3 c.31961-84insAAAAC 0.218051 0.1786 Uncertain 5_169097474_G->C 5 169097474 169097474 G C snp 630.77 1/1 48 18 0 18 1.0 intronic rs2306564 DOCK2 AR NM_004946 exon4 c.33215-71G>C Uncertain 5_169097505_-->TTTTA 5 169097505 169097505 - TTTTA indel 1645.73 0/1 99 56 30 26 0.46 intronic rs111473735 DOCK2 AR NM_004946 exon4 c.33215-40insTTTTA 0.322484 0.2312 0.326216 0.3386 0.2303 Uncertain 5_169097940_G->A 5 169097940 169097940 G A snp 1714.77 1/1 99 56 2 54 0.96 intronic rs2306565 DOCK2 AR NM_004946 exon5 c.33751-141G>A 0.59405 0.5169 Uncertain 5_169098265_C->T 5 169098265 169098265 C T snp 205.77 0/1 99 22 15 7 0.32 intronic rs12656761 DOCK2 AR NM_004946 exon5 c.33848+87C>T 0.210463 0.2847 Uncertain 5_169098298_G->A 5 169098298 169098298 G A snp 77.77 0/1 99 7 4 3 0.43 intronic rs12656787 DOCK2 AR NM_004946 exon5 c.33848+120G>A 0.210463 0.2857 Uncertain 5_169101599_C->T 5 169101599 169101599 C T snp 2054.77 1/1 99 64 0 64 1.0 intronic rs2244445 DOCK2 AR NM_004946 exon6 c.37119+150C>T Uncertain 5_169127276_A->C 5 169127276 169127276 A C snp 104.77 0/1 99 15 9 6 0.4 intronic rs264845 DOCK2 AR NM_004946 exon13 c.62813+133A>C 0.582668 0.3194 Uncertain 5_169129284_G->A 5 169129284 169129284 G A snp 616.77 0/1 99 72 45 27 0.38 intronic rs2306560 DOCK2 AR NM_004946 exon14 c.64976-22G>A 0.261182 0.1984 0.240427 0.2566 0.1967 Uncertain 5_169129422_A->G 5 169129422 169129422 A G snp 669.77 0/1 99 70 42 28 0.4 exonic rs2306559 DOCK2 AR synonymous SNV NM_004946 exon14 c.A1374G p.K458K 0.385383 0.6815 0.375827 0.4067 0.7128 Uncertain 5_169138909_G->A 5 169138909 169138909 G A snp 443.77 0/1 99 27 11 16 0.59 intronic rs2306558 DOCK2 AR NM_004946 exon16 c.74608-29G>A 0.329273 0.5913 0.317776 0.3679 0.5781 Uncertain 5_169267720_G->T 5 169267720 169267720 G T snp 735.77 0/1 99 89 53 36 0.4 intronic rs118131805 DOCK2 AR NM_004946 exon27 c.203430-40G>T 0.00778754 0.0238 0.005382 0.0081 0.0262 Uncertain 5_169267784_G->A 5 169267784 169267784 G A snp 1590.77 0/1 99 148 83 65 0.44 exonic rs261623 DOCK2 AR synonymous SNV NM_004946 exon27 c.G2727A p.Q909Q 0.395367 0.1577 0.476703 0.3967 0.1526 Uncertain 5_169361595_A->G 5 169361595 169361595 A G snp 715.77 0/1 99 74 45 29 0.39 intronic rs259897 DOCK2 AR NM_004946 exon28 c.345741-48476A>G 0.217252 0.0883 Uncertain 5_169361660_C->G 5 169361660 169361660 C G snp 1284.77 0/1 99 146 86 60 0.41 intronic rs259898 DOCK2 AR NM_004946 exon28 c.345741-48411C>G 0.161342 0.0863 0.0815 0.0758 0.05 T 0.0 P -0.959 T Uncertain 5_169361685_T->G 5 169361685 169361685 T G snp 1339.77 0/1 99 152 87 65 0.43 intronic rs259899 DOCK2 AR NM_004946 exon28 c.345741-48386T>G 0.15635 0.0863 0.0812 0.0758 0.01 T 0.0 P -0.979 T Uncertain 5_169361830_G->A 5 169361830 169361830 G A snp 498.77 0/1 99 40 21 19 0.47 intronic rs259900 DOCK2 AR NM_004946 exon28 c.345741-48241G>A 0.158546 0.0873 Uncertain 5_169361860_T->C 5 169361860 169361860 T C snp 317.77 0/1 99 20 9 11 0.55 intronic rs259901 DOCK2 AR NM_004946 exon28 c.345741-48211T>C 0.158946 0.0873 Uncertain 5_169422920_A->G 5 169422920 169422920 A G snp 327.78 1/1 27 10 0 10 1.0 intronic rs2059110 DOCK2 AR NM_004946 exon30 c.358759-169A>G 0.763179 0.7133 Uncertain 5_169435396_G->T 5 169435396 169435396 G T snp 261.77 0/1 99 13 5 8 0.62 intronic rs2287726 DOCK2 AR NM_004946 exon31 c.371170-104G>T 0.340655 0.2063 Uncertain 5_169435713_A->C 5 169435713 169435713 A C snp 1634.77 0/1 99 136 69 67 0.49 exonic rs2287727 DOCK2 AR synonymous SNV NM_004946 exon32 c.A3195C p.L1065L 0.243011 0.3909 0.220744 0.2919 0.3981 Uncertain 5_169435880_C->T 5 169435880 169435880 C T snp 110.77 0/1 99 9 4 5 0.56 intronic rs10056324 DOCK2 AR NM_004946 exon32 c.371420+130C>T 0.21266 0.1895 Uncertain 5_169454831_G->A 5 169454831 169454831 G A snp 1697.77 0/1 99 166 90 76 0.46 intronic rs13175232 DOCK2 AR NM_004946 exon34 c.390536-35G>A 0.486422 0.6052 0.405659 0.3879 0.5756 Uncertain 5_169454833_T->C 5 169454833 169454833 T C snp 1713.77 0/1 99 167 91 76 0.46 intronic rs13157227 DOCK2 AR NM_004946 exon34 c.390536-33T>C 0.486422 0.6052 0.405659 0.3887 0.5760 Uncertain 5_169454941_C->G 5 169454941 169454941 C G snp 1538.77 0/1 99 137 64 73 0.53 exonic rs9791113 DOCK2 AR synonymous SNV NM_004946 exon34 c.C3456G p.L1152L 0.486222 0.6052 0.405890 0.3923 0.5777 Uncertain 5_169461399_G->A 5 169461399 169461399 G A snp 2465.77 0/1 99 218 114 104 0.48 splicing rs3763047 DOCK2 AR NM_004946 exon35 c.397072-3G>A 0.499201 0.6052 0.423189 0.3921 0.5776 Pathogenic 5_169461547_C->T 5 169461547 169461547 C T snp 1446.77 0/1 99 121 60 61 0.5 exonic rs3763048 DOCK2 AR synonymous SNV NM_004946 exon35 c.C3612T p.T1204T 0.506789 0.6042 0.434261 0.3995 0.5761 Uncertain 5_169463611_A->G 5 169463611 169463611 A G snp 938.77 0/1 99 119 75 44 0.37 intronic rs190209759 DOCK2 AR NM_004946 exon36 c.399229+52A>G 0.000599042 0.0026 0 Uncertain 5_169468243_A->G 5 169468243 169468243 A G snp 904.77 1/1 66 32 0 32 1.0 intronic rs2270895 DOCK2 AR NM_004946 exon37 c.403819+94A>G 0.457668 0.6438 Uncertain 5_169468929_A->G 5 169468929 169468929 A G snp 503.77 1/1 39 13 0 13 1.0 intronic rs2270897 DOCK2 AR NM_004946 exon38 c.404686-87A>G 0.587061 0.6409 Uncertain 5_169472765_C->G 5 169472765 169472765 C G snp 892.77 0/1 99 75 37 38 0.51 intronic rs6884561 DOCK2 AR NM_004946 exon39 c.408489-54C>G 0.482827 0.5863 0.406483 Uncertain 5_169474325_A->C 5 169474325 169474325 A C snp 507.77 0/1 99 31 14 17 0.55 intronic rs905155 DOCK2 AR NM_004946 exon40 c.410183-188A>C 0.422524 0.619 Uncertain 5_169474467_C->T 5 169474467 169474467 C T snp 3045.77 0/1 99 250 119 131 0.52 intronic rs146319740 DOCK2 AR NM_004946 exon40 c.410183-46C>T 0.00159744 0.0079 0.0008 0.0112 Uncertain 5_169482219_G->C 5 169482219 169482219 G C snp 691.77 0/1 99 45 17 28 0.62 intronic rs185580836 DOCK2 AR NM_004946 exon42 c.417978-89G>C 0.000599042 Uncertain 5_169496051_T->C 5 169496051 169496051 T C snp 971.77 0/1 99 95 53 42 0.44 intronic rs6868503 DOCK2 AR NM_004946 exon46 c.431810-89T>C 0.645567 0.75 Uncertain 5_169507067_A->G 5 169507067 169507067 A G snp 1198.77 0/1 99 119 69 50 0.42 intronic rs9885452 DOCK2 AR NM_004946 exon50 c.442836-99A>G 0.521565 0.5625 Uncertain 5_169509664_G->A 5 169509664 169509664 G A snp 819.77 0/1 99 78 46 32 0.41 intronic rs56105279 DOCK2 AR NM_004946 exon52 c.445469-135G>A 0.400559 0.4911 Uncertain 5_169533240_G->A 5 169533240 169533240 G A snp 1353.77 0/1 99 98 52 46 0.47 exonic rs2277944 FOXI1 AR synonymous SNV NM_012188 exon1 c.G279A p.R93R 0.362021 0.4821 0.274619 0.3063 0.5403 Uncertain 5_169533606_T->C 5 169533606 169533606 T C snp 2097.77 0/1 99 206 110 96 0.47 intronic rs2277945 FOXI1 AR NM_012188 exon1 c.574+71T>C 0.261382 0.2897 Uncertain 5_169535522_T->C 5 169535522 169535522 T C snp 7611.77 1/1 99 250 0 250 1.0 exonic rs10063424 FOXI1 AR synonymous SNV NM_012188 exon2 c.T1044C p.Y348Y 0.929513 0.9851 0.907581 0.9089 0.9857 Uncertain 5_169535734_C->A 5 169535734 169535734 C A snp 374.77 0/1 99 26 12 14 0.54 UTR3 rs6873124 FOXI1 AR 0.355232 0.4812 Uncertain 5_169661994_G->C 5 169661994 169661994 G C snp 572.77 1/1 45 19 0 19 1.0 exonic rs957998 C5orf58 AU nonsynonymous SNV NM_001102609 exon3 c.G77C p.R26P 0.496496 0.5587 0.5952 0.22 T 0.0 P -0.939 T 0.004 T 0.002 T Pathogenic 5_169685163_C->T 5 169685163 169685163 C T snp 2179.77 1/1 99 80 1 79 0.99 exonic rs315717 LCP2 AU synonymous SNV NM_005565 exon16 c.G978A p.Q326Q 0.555312 0.5675 0.536379 0.5080 0.5958 Uncertain 5_169685708_G->T 5 169685708 169685708 G T snp 942.77 1/1 69 28 0 28 1.0 intronic rs1702380 LCP2 AU NM_005565 exon7 c.10169-161G>T 0.647564 0.5675 Uncertain 5_169686007_T->C 5 169686007 169686007 T C snp 309.78 1/1 24 9 0 9 1.0 intronic rs432621 LCP2 AU NM_005565 exon7 c.10182+125T>C 0.513978 0.5308 Uncertain 5_169689604_G->C 5 169689604 169689604 G C snp 627.77 1/1 48 19 0 19 1.0 intronic rs395407 LCP2 AU NM_005565 exon9 c.13938-34G>C 0.932708 0.9315 0.889574 0.8900 0.9374 Uncertain 5_169695446_C->T 5 169695446 169695446 C T snp 240.77 0/1 99 34 19 15 0.44 exonic rs2292254 LCP2 AU synonymous SNV NM_005565 exon8 c.G564A p.V188V 0.455072 0.6538 0.328131 0.4736 0.555 Uncertain 5_169695611_C->A 5 169695611 169695611 C A snp 557.77 1/1 42 21 0 21 1.0 intronic rs366122 LCP2 AU NM_005565 exon14 c.19786+125C>A 0.542532 0.8016 Uncertain 5_169697707_G->A 5 169697707 169697707 G A snp 343.78 1/1 27 11 0 11 1.0 intronic rs315745 LCP2 AU NM_005565 exon15 c.22022-15G>A 0.582668 0.8552 0.480171 0.5523 0.8416 Uncertain 5_169698028_A->G 5 169698028 169698028 A G snp 699.77 1/1 51 21 0 21 1.0 intronic rs315744 LCP2 AU NM_005565 exon15 c.22221+107A>G 0.612819 0.8562 Uncertain 5_169805629_T->G 5 169805629 169805629 T G snp 119.77 0/1 99 11 5 6 0.55 UTR3 rs2656841 KCNMB1 AD 0.405351 0.374 Uncertain 5_169805630_G->T 5 169805630 169805630 G T snp 121.77 0/1 99 11 5 6 0.55 UTR3 rs2656842 KCNMB1 AD 0.405351 0.374 Uncertain 5_169805956_C->G 5 169805956 169805956 C G snp 2200.77 0/1 99 185 86 99 0.54 exonic rs2301149 KCNMB1 AD nonsynonymous SNV NM_004137 exon4 c.G328C p.V110L 0.123203 0.1339 0.091573 0.1027 0.1280 1.000 P -0.967 T 0.0 T 0.0 T ID=CM078442;DIS=Hypertension, response to verapamil, association with;TAG=DP;PUB=17700361 DP Pathogenic 5_169806001_T->C 5 169806001 169806001 T C snp 1327.77 0/1 99 115 54 61 0.53 intronic rs314157 KCNMB1 AD NM_004137 exon1 c.270+24T>C 0.408546 0.373 0.355374 0.3349 0.3406 Uncertain 5_169810966_A->C 5 169810966 169810966 A C snp 285.77 0/1 99 30 19 11 0.37 intronic rs703507 KCNMB1 AD NM_004137 exon2 c.5147+112A>C 0.501797 0.497 Uncertain 5_169910062_A->G 5 169910062 169910062 A G snp 902.77 0/1 99 72 33 39 0.54 intergenic rs10076544 CTD-2270F17.1 AU 0.273363 0.3462 0.1866 0.2836 Uncertain 5_169910084_G->T 5 169910084 169910084 G T snp 2061.77 1/1 99 73 0 73 1.0 intergenic rs4867968 CTD-2270F17.1 AU 0.930312 0.9444 0.8694 0.9286 Uncertain 5_170147533_G->A 5 170147533 170147533 G A snp 282.77 0/1 99 28 17 11 0.39 intronic KCNIP1 AU NM_001278339 exon3 c.215818+139G>A Uncertain 5_170149554_T->C 5 170149554 170149554 T C snp 556.77 1/1 42 15 0 15 1.0 intronic rs2277951 KCNIP1 AU NM_001278339 exon5 c.218140-162T>C 0.407548 0.8135 Uncertain 5_170149573_C->T 5 170149573 170149573 C T snp 898.77 1/1 66 24 0 24 1.0 intronic rs2277952 KCNIP1 AU NM_001278339 exon5 c.218140-143C>T 0.757788 0.8641 Uncertain 5_170160749_G->A 5 170160749 170160749 G A snp 2267.77 1/1 99 86 0 86 1.0 intronic rs4868018 KCNIP1 AU NM_001278339 exon7 c.229263-90G>A 0.766973 0.8641 Uncertain 5_170215490_T->C 5 170215490 170215490 T C snp 720.77 0/1 99 39 15 24 0.62 intronic rs4868028 GABRP AU 0.47484 0.497 Uncertain 5_170215493_C->T 5 170215493 170215493 C T snp 385.77 0/1 99 43 26 17 0.4 intronic rs983818 GABRP AU 0.152157 0.1647 Uncertain 5_170215638_T->C 5 170215638 170215638 T C snp 1585.77 0/1 99 184 109 75 0.41 exonic rs10036156 GABRP AU synonymous SNV NM_001291985 exon2 c.T19C p.L7L 0.245607 0.1647 0.199985 0.1475 0.1659 Uncertain 5_170215670_G->A 5 170215670 170215670 G A snp 1503.77 0/1 99 169 99 70 0.41 exonic rs7725726 GABRP AU synonymous SNV NM_001291985 exon2 c.G51A p.E17E 0.245607 0.1647 0.200062 0.1475 0.1658 Uncertain 5_170215778_C->T 5 170215778 170215778 C T snp 365.77 0/1 99 39 22 17 0.44 intronic rs11958810 GABRP AU NM_001291985 exon2 c.53+106C>T 0.151757 0.1647 Uncertain 5_170215820_T->A 5 170215820 170215820 T A snp 266.77 0/1 94 14 5 9 0.64 intronic rs3815762 GABRP AU NM_001291985 exon2 c.53+148T>A 0.151558 0.1647 Uncertain 5_170221185_A->G 5 170221185 170221185 A G snp 494.77 0/1 99 33 13 20 0.61 intronic rs6884917 GABRP AU NM_001291985 exon4 c.5615-49A>G 0.554513 0.4167 0.546594 0.4595 0.4586 Uncertain 5_170232614_T->C 5 170232614 170232614 T C snp 80.77 0/1 67 5 2 3 0.6 intronic rs2303135 GABRP AU NM_001291985 exon7 c.17100-105T>C 0.553914 0.4067 Uncertain 5_170237090_T->C 5 170237090 170237090 T C snp 157.77 0/1 99 13 6 7 0.54 intronic rs6555921 GABRP AU NM_014211 exon9 c.21140+331T>C 0.515974 0.4067 Uncertain 5_170239316_T->C 5 170239316 170239316 T C snp 256.77 0/1 99 12 4 8 0.67 UTR3 rs373316253 GABRP AU 0.00179712 0.004 Uncertain 5_170288922_A->G 5 170288922 170288922 A G snp 104.28 1/1 9 5 0 5 1.0 UTR5 rs11749349 RANBP17 AU 0.837061 0.8919 Uncertain 5_170289221_T->G 5 170289221 170289221 T G snp 41.74 1/1 6 2 0 2 1.0 intronic rs10475962 RANBP17 AU NM_022897 exon1 c.18+166T>G 0.657149 0.7808 Uncertain 5_170322919_T->A 5 170322919 170322919 T A snp 325.78 1/1 27 9 0 9 1.0 intronic rs2287894 RANBP17 AU NM_022897 exon5 c.34016-134T>A 0.821685 0.8919 Uncertain 5_170323258_A->G 5 170323258 170323258 A G snp 1668.77 1/1 99 55 0 55 1.0 intronic rs2287893 RANBP17 AU NM_022897 exon5 c.34082+139A>G 0.683307 0.7808 Uncertain 5_170336614_G->C 5 170336614 170336614 G C snp 640.77 1/1 48 18 0 18 1.0 intronic rs1833596 RANBP17 AU NM_022897 exon6 c.47627-50G>C 0.68151 0.7768 0.614993 0.7060 0.7635 Uncertain 5_170338106_G->A 5 170338106 170338106 G A snp 585.77 0/1 99 62 38 24 0.39 exonic rs142612405 RANBP17 AU nonsynonymous SNV NM_022897 exon7 c.G728A p.C243Y 0.0071885 0.0337 0.000385 0.0019 0.0245 1 T 1 D -1.040 T 0.732 T 0.197 P Pathogenic 5_170341327_TA->- 5 170341327 170341328 TA - indel 858.73 1/1 57 21 0 21 1.0 intronic rs113299932 RANBP17 AU NM_022897 exon8 c.52207+83_52207+84delTA 0.641174 0.7808 Uncertain 5_170343326_G->A 5 170343326 170343326 G A snp 56.74 1/1 6 2 0 2 1.0 intronic rs78171408 RANBP17 AU NM_022897 exon9 c.54431-142G>A 0.687899 0.7808 Uncertain 5_170343353_G->A 5 170343353 170343353 G A snp 172.9 1/1 15 5 0 5 1.0 intronic rs12109671 RANBP17 AU NM_022897 exon9 c.54431-115G>A 0.687899 0.7808 Uncertain 5_170345986_A->G 5 170345986 170345986 A G snp 141.03 1/1 12 4 0 4 1.0 intronic rs1862237 RANBP17 AU NM_022897 exon10 c.56826+123A>G 0.65655 0.7808 Uncertain 5_170380523_G->A 5 170380523 170380523 G A snp 2060.77 1/1 99 67 0 67 1.0 intronic rs930891 RANBP17 AU NM_022897 exon13 c.91563-77G>A 0.654752 0.7808 Uncertain 5_170395512_A->T 5 170395512 170395512 A T snp 801.77 1/1 60 22 0 22 1.0 intronic rs2879366 RANBP17 AU NM_022897 exon14 c.106344+131A>T 0.654752 0.7808 0.7346 0.7751 Uncertain 5_170395820_G->A 5 170395820 170395820 G A snp 1385.77 1/1 99 53 0 53 1.0 intronic rs11134672 RANBP17 AU NM_022897 exon14 c.106344+439G>A 0.654752 0.7808 Uncertain 5_170395885_T->C 5 170395885 170395885 T C snp 309.78 1/1 24 9 0 9 1.0 intronic rs2446049 RANBP17 AU NM_022897 exon14 c.106344+504T>C 1 1 Uncertain 5_170610273_G->A 5 170610273 170610273 G A snp 3439.77 1/1 99 111 0 111 1.0 intronic rs6555936 RANBP17 AU NM_022897 exon17 c.321197+39G>A 0.777356 0.8254 0.721436 0.7345 0.8223 Uncertain 5_170640827_C->A 5 170640827 170640827 C A snp 2562.77 1/1 99 75 0 75 1.0 intronic rs4867648 RANBP17 AU NM_022897 exon21 c.351705+85C>A 0.874601 1 Uncertain 5_170720755_T->A 5 170720755 170720755 T A snp 718.77 1/1 54 23 0 23 1.0 intronic rs2914330 RANBP17 AU NM_022897 exon26 c.431849-131T>A 0.99381 1 Uncertain 5_170813629_A->G 5 170813629 170813629 A G snp 37.77 0/1 66 4 2 2 0.5 downstream rs75584427 MIR3912 AU 0.0589058 0.0754 0.0290 0.0781 Uncertain 5_170815125_G->T 5 170815125 170815125 G T snp 540.77 1/1 39 21 0 21 1.0 intronic rs2071276 NPM1 AU NM_199185 exon1 c.58+115G>T 0.467053 0.5367 Uncertain 5_170818897_A->G 5 170818897 170818897 A G snp 196.77 0/1 99 19 9 10 0.53 intronic rs3830032 NPM1 AU NM_199185 exon4 c.3851+94A>G 0.286342 0.4177 Uncertain 5_170818906_T->A 5 170818906 170818906 T A snp 436.77 1/1 33 18 0 18 1.0 intronic rs3830033 NPM1 AU NM_199185 exon4 c.3851+103T>A 0.457468 0.5268 Uncertain 5_170818964_-->GT 5 170818964 170818964 - GT indel 248.9 0/1 14 8 1 7 0.88 intronic rs138910433 NPM1 AU NM_199185 exon4 c.3851+161insGT 0.311502 0.4325 Uncertain 5_170818969_A->G 5 170818969 170818969 A G snp 146.03 1/1 12 6 0 6 1.0 intronic rs3830034 NPM1 AU NM_199185 exon4 c.3851+166A>G 0.457668 0.5268 Uncertain 5_170819887_G->A 5 170819887 170819887 G A snp 2927.77 1/1 99 112 0 112 1.0 intronic rs3830035 NPM1 AU NM_199185 exon6 c.4965-30G>A 0.457468 0.5268 0.393341 0.4135 0.5458 Uncertain 5_170820024_G->A 5 170820024 170820024 G A snp 178.9 1/1 15 5 0 5 1.0 intronic rs3830036 NPM1 AU NM_199185 exon6 c.5030+42G>A 0.457468 0.5268 0.390466 0.4206 0.5457 Uncertain 5_170827115_C->A 5 170827115 170827115 C A snp 3266.77 1/1 99 126 3 123 0.98 intronic rs6555952 NPM1 AU NM_199185 exon7 c.12204-41C>A 0.457069 0.5268 0.4154 0.5458 Uncertain 5_170827118_A->G 5 170827118 170827118 A G snp 2973.77 1/1 99 121 3 118 0.98 intronic rs6555953 NPM1 AU NM_199185 exon7 c.12204-38A>G 0.457268 0.5268 0.008150 0.4163 0.5468 Uncertain 5_170828170_C->T 5 170828170 170828170 C T snp 92.28 1/1 9 3 0 3 1.0 intronic rs62383969 NPM1 AU NM_002520 exon8 c.12977+241C>T 0.456869 0.5268 Uncertain 5_170832637_C->T 5 170832637 170832637 C T snp 141.03 1/1 12 4 0 4 1.0 intronic rs7711765 NPM1 AU NM_199185 exon8 c.17455+230C>T 0.456869 0.5268 Uncertain 5_170837514_T->- 5 170837514 170837514 T - indel 94.73 0/1 99 24 11 13 0.54 intronic rs34323200 NPM1 AU NM_199185 exon10 c.22578-16delT 0.3378 0.3738 Uncertain 5_170847555_T->C 5 170847555 170847555 T C snp 887.77 1/1 66 28 1 27 0.96 intronic rs6555955 FGF18 AU NM_003862 exon2 c.244+108T>C 0.972644 0.999 Uncertain 5_171200659_T->G 5 171200659 171200659 T G snp 1026.77 1/1 75 30 0 30 1.0 intergenic rs27947 FGF18 AU 0.438498 0.5317 Uncertain 5_171200997_C->A 5 171200997 171200997 C A snp 930.77 1/1 66 34 0 34 1.0 intergenic rs26400 FGF18 AU 0.579673 0.5903 0.5620 0.6118 Uncertain 5_171201499_G->C 5 171201499 171201499 G C snp 5446.77 1/1 99 203 0 203 1.0 intergenic rs12153230 FGF18 AU 0.279752 0.4167 0.2238 0.3939 0 D -0.955 T Uncertain 5_171217371_G->A 5 171217371 171217371 G A snp 6084.77 1/1 99 220 0 220 1.0 intronic rs11950253 SMIM23 AU NM_001289970 exon2 c.4410+86G>A 0.339457 0.5397 Uncertain 5_171326223_A->G 5 171326223 171326223 A G snp 159.77 0/1 99 21 11 10 0.48 intronic rs2288816 FBXW11 AU NM_033645 exon9 c.30460+125A>G 0.0830671 0.2242 Uncertain 5_171472417_A->G 5 171472417 171472417 A G snp 40.77 0/1 36 6 2 4 0.67 intronic rs4867662 STK10 AU NM_005990 exon1 c.141+391A>G 0.545128 0.5526 0.5802 0.5299 Uncertain 5_171472575_G->A 5 171472575 171472575 G A snp 1458.77 0/1 99 153 85 68 0.44 intronic rs4868136 STK10 AU NM_005990 exon1 c.141+549G>A 0.510583 0.5357 Uncertain 5_171480055_G->A 5 171480055 171480055 G A snp 871.77 0/1 99 64 27 37 0.58 intronic rs4569891 STK10 AU NM_005990 exon2 c.8161+9G>A 0.554744 0.5896 0.7423 Uncertain 5_171517539_G->A 5 171517539 171517539 G A snp 68.77 0/1 97 8 5 3 0.38 intronic rs74527560 STK10 AU NM_005990 exon10 c.45481+173G>A 0.0111821 0.0357 Uncertain 5_171532887_C->T 5 171532887 171532887 C T snp 679.77 0/1 99 38 13 25 0.66 intronic rs3111482 STK10 AU NM_005990 exon13 c.60856+146C>T 0.138179 0.1161 Uncertain 5_171533629_A->G 5 171533629 171533629 A G snp 280.77 0/1 99 27 14 13 0.48 exonic rs2306963 STK10 AU synonymous SNV NM_005990 exon6 c.T783C p.S261S 0.758986 0.8542 0.702983 0.7403 0.8188 Uncertain 5_171533656_C->T 5 171533656 171533656 C T snp 427.77 0/1 99 48 28 20 0.42 exonic rs2306962 STK10 AU synonymous SNV NM_005990 exon6 c.G756A p.S252S 0.684505 0.8532 0.624173 0.7123 0.8178 Uncertain 5_171533782_T->C 5 171533782 171533782 T C snp 1693.77 0/1 99 160 81 79 0.49 exonic rs2306961 STK10 AU synonymous SNV NM_005990 exon6 c.A630G p.K210K 0.234225 0.1498 0.264416 0.2357 0.1842 ID=CM1111336;DIS=Asthma, aspirin-intolerant, reduced risk;TAG=DP;PUB=21905501 DP Uncertain 5_171554473_G->A 5 171554473 171554473 G A snp 3772.77 1/1 99 123 0 123 1.0 intronic rs2279514 STK10 AU NM_005990 exon17 c.82540+48G>A 0.646366 0.8681 0.592342 0.6956 0.8311 Uncertain 5_171583809_C->G 5 171583809 171583809 C G snp 1133.77 0/1 99 87 41 46 0.53 intronic rs2306960 STK10 AU NM_005990 exon18 c.111907+17C>G 0.221446 0.2966 0.166769 0.1870 0.3097 Uncertain 5_171621430_A->G 5 171621430 171621430 A G snp 107.78 0/1 27 7 3 4 0.57 intronic rs6862632 EFCAB9 AU NM_001171183 exon1 c.136+118A>G 0.501597 0.3681 Uncertain 5_171621440_A->G 5 171621440 171621440 A G snp 122.77 0/1 62 6 2 4 0.67 intronic rs6862640 EFCAB9 AU NM_001171183 exon1 c.136+128A>G 0.473243 0.3641 Uncertain 5_171627391_T->C 5 171627391 171627391 T C snp 271.77 0/1 94 12 4 8 0.67 intronic rs10070923 EFCAB9 AU NM_001171183 exon3 c.6393-178T>C 0.628594 0.6329 Uncertain 5_171627773_G->C 5 171627773 171627773 G C snp 595.77 0/1 99 44 20 24 0.55 intronic rs2306959 EFCAB9 AU NM_001171183 exon3 c.6570+27G>C 0.700679 0.6389 0.727332 0.6708 0.6424 Uncertain 5_171630197_-->TTTC 5 171630197 171630197 - TTTC indel 651.73 0/1 99 25 12 13 0.52 intronic rs201583078 EFCAB9 AU NM_001171183 exon4 c.9041-20insTTTC 0.135383 0.0764 0.675065 0.4080 0.5648 Uncertain 5_171630205_ACCCT->- 5 171630205 171630209 ACCCT - indel 865.73 0/1 99 28 14 14 0.5 intronic rs372914830 EFCAB9 AU NM_001171183 exon4 c.9041-12_9041-8delACCCT 0.4962 0.5844 Uncertain 5_171760546_A->T 5 171760546 171760546 A T snp 116.77 0/1 58 7 3 4 0.57 UTR3 rs3204110 SH3PXD2B AR 0.561302 0.5873 Uncertain 5_171760569_A->G 5 171760569 171760569 A G snp 428.77 0/1 99 36 19 17 0.47 UTR3 rs12033 SH3PXD2B AR 0.685503 0.6835 Uncertain 5_171785892_A->G 5 171785892 171785892 A G snp 2250.77 1/1 99 84 0 84 1.0 intronic rs2569232 SH3PXD2B AR NM_001017995 exon6 c.20509+11A>G 0.782748 0.7599 0.723512 0.7413 0.7683 Uncertain 5_171800897_A->G 5 171800897 171800897 A G snp 1315.77 1/1 93 53 0 53 1.0 intronic rs2731717 SH3PXD2B AR NM_001017995 exon8 c.35447+78A>G 0.436302 0.6617 0.339904 Uncertain 5_171808930_C->T 5 171808930 171808930 C T snp 298.78 1/1 24 8 0 8 1.0 intronic rs2731722 SH3PXD2B AR NM_001017995 exon9 c.43667-109C>T 0.38778 0.6617 Uncertain 5_171849289_A->G 5 171849289 171849289 A G snp 1077.77 1/1 78 36 0 36 1.0 intronic rs6873315 SH3PXD2B AR NM_001017995 exon12 c.84047-130A>G 0.605232 0.6935 Uncertain 5_171849471_G->A 5 171849471 171849471 G A snp 5259.77 1/1 99 197 1 196 0.99 exonic rs17074773 SH3PXD2B AR synonymous SNV NM_001017995 exon2 c.C105T p.S35S 0.374601 0.6617 0.261110 0.3613 0.6680 Uncertain 5_172196711_G->T 5 172196711 172196711 G T snp 3044.77 1/1 99 111 0 111 1.0 exonic rs2431663 DUSP1 AU synonymous SNV NM_004417 exon3 c.C600A p.I200I 0.851438 0.999 0.831001 0.9302 0.9999 Uncertain 5_172196997_T->C 5 172196997 172196997 T C snp 115.77 0/1 66 6 2 4 0.67 intronic rs7702178 DUSP1 AU NM_004417 exon3 c.1399-166T>C 0.223243 0.372 Uncertain 5_172197581_G->C 5 172197581 172197581 G C snp 829.77 0/1 99 61 24 37 0.61 intronic rs34507926 DUSP1 AU NM_004417 exon4 c.1824-7G>C 0.117013 0.3095 0.031660 0.1013 0.3249 Uncertain 5_172261583_-->C 5 172261583 172261583 - C indel 316.73 1/1 44 25 0 25 1.0 intronic ERGIC1 AU NM_001031711 exon1 c.20+147insC Uncertain 5_172261593_T->C 5 172261593 172261593 T C snp 516.77 1/1 39 15 0 15 1.0 intronic rs63376061 ERGIC1 AU NM_001031711 exon1 c.20+157T>C Uncertain 5_172293965_A->C 5 172293965 172293965 A C snp 155.77 0/1 99 9 4 5 0.56 intronic rs4868226 ERGIC1 AU NM_001031711 exon2 c.54285-21736A>C 0.462061 0.6776 0.6243 0.75 Uncertain 5_172294194_G->T 5 172294194 172294194 G T snp 6093.77 1/1 99 218 1 217 1.0 intronic rs793027 ERGIC1 AU NM_001031711 exon2 c.54285-21507G>T 0.7696 0.6188 Uncertain 5_172336616_C->T 5 172336616 172336616 C T snp 3113.77 0/1 99 250 115 135 0.54 intronic rs2302957 ERGIC1 AU NM_001031711 exon4 c.75253-53C>T 0.587061 0.3938 0.672799 Uncertain 5_172353727_A->C 5 172353727 172353727 A C snp 291.77 0/1 99 13 4 9 0.69 intronic rs74837478 ERGIC1 AU NM_001031711 exon7 c.92156+155A>C 0.0720847 0.1141 Uncertain 5_172381973_-->GGT 5 172381973 172381973 - GGT indel 6925.73 1/1 99 119 0 119 1.0 ncRNA_exonic rs56746501 LOC100268168 AU 0.4377 0.6954 0.4362 0.7206 Uncertain 5_172385267_-->A 5 172385267 172385267 - A indel 86.73 0/1 48 22 7 15 0.68 ncRNA_intronic rs34217217 LOC100268168 AU 0.0549 0.0833 Uncertain 5_172395664_T->C 5 172395664 172395664 T C snp 1452.77 0/1 99 126 61 65 0.52 intronic rs11749686 RPL26L1 AU NM_016093 exon3 c.8726+62T>C 0.582867 0.749 Uncertain 5_172396394_C->T 5 172396394 172396394 C T snp 5495.77 1/1 99 200 0 200 1.0 intronic rs505788 RPL26L1 AU NM_016093 exon4 c.9539-21C>T 0.997005 1 0.997001 0.9955 1 Uncertain 5_172421761_T->- 5 172421761 172421761 T - indel 171.73 0/1 99 46 22 24 0.52 intronic rs11296906 ATP6V0E1 AU NM_003945 exon2 c.10914-16delT 0.514577 0.5873 0.4802 0.5682 Uncertain 5_172447762_G->A 5 172447762 172447762 G A snp 1114.77 0/1 99 97 50 47 0.48 ncRNA_exonic rs17075508 SNORA74B AU 0.325879 0.7272 0.133066 0.2573 0.7332 Uncertain 5_172461243_C->T 5 172461243 172461243 C T snp 1318.77 0/1 99 85 37 48 0.56 intronic rs4868237 ATP6V0E1 AU NM_003945 exon4 c.50538-158C>T 0.311901 0.7282 Uncertain 5_172494981_C->T 5 172494981 172494981 C T snp 142.03 1/1 12 7 0 7 1.0 intronic rs582067 CREBRF AU 0.361821 0.1716 Uncertain 5_172512686_C->T 5 172512686 172512686 C T snp 109.77 0/1 99 18 12 6 0.33 intronic rs671387 CREBRF AU NM_153607 exon3 c.5725-817C>T 0.361422 0.1706 Uncertain 5_172561294_C->T 5 172561294 172561294 C T snp 37.77 0/1 66 7 5 2 0.29 UTR3 rs2544581 CREBRF AU 0.409545 0.2004 Uncertain 5_172571418_T->G 5 172571418 172571418 T G snp 43.77 0/1 66 5 2 3 0.6 upstream rs255306 BNIP1 AU 0.554912 0.2897 Uncertain 5_172573767_T->C 5 172573767 172573767 T C snp 935.77 0/1 99 75 34 41 0.55 intronic rs29798 BNIP1 AU NM_001205 exon2 c.2320-101T>C 0.583067 0.2897 Uncertain 5_172585928_C->- 5 172585928 172585928 C - indel 2454.73 0/1 99 114 46 68 0.6 intronic rs5745160 BNIP1 AU NM_001205 exon4 c.14300+80delC 0.364617 0.1667 Uncertain 5_172659941_C->G 5 172659941 172659941 C G snp 1252.77 0/1 99 96 49 47 0.49 exonic rs3729753 NKX2-5 AU,AD synonymous SNV NM_004387 exon2 c.G606C p.L202L 0.0257588 0.0635 0.000156 0.0138 0.0449 Uncertain 5_172660523_T->A 5 172660523 172660523 T A snp 38.77 0/1 67 5 3 2 0.4 intronic rs3095871 NKX2-5 AU,AD NM_001166175 exon1 c.5+19T>A 0.610623 0.2768 0.4675 0.2386 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000127210.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 5_172662024_T->C 5 172662024 172662024 T C snp 1520.77 0/1 99 132 61 71 0.54 exonic rs2277923 NKX2-5 AU,AD synonymous SNV NM_004387 exon1 c.A63G p.E21E 0.535743 0.6339 0.404187 0.4052 0.6318 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_multiple_submitters\x2c_no_conflicts;CLNACC=RCV000037967.7;CLNDSDB=MedGen;CLNDSDBID=CN169374 ID=CM1312416;DIS=Cardiac disease, modifier of;TAG=DFP;PUB=24376681 DFP Uncertain 5_172745269_-->AGAG 5 172745269 172745269 - AGAG indel 774.73 1/1 42 41 0 41 1.0 intronic rs4041247 STC2 AU NM_003714 exon1 c.403+17insAGAG 0.0242 0.1310 Uncertain 5_172750120_C->A 5 172750120 172750120 C A snp 951.77 1/1 72 25 0 25 1.0 intronic rs2277949 STC2 AU NM_003714 exon2 c.5372-101C>A 0.134585 0.4782 Uncertain 5_172750436_G->A 5 172750436 172750436 G A snp 3317.77 1/1 99 122 0 122 1.0 splicing rs2277950 STC2 AU NM_003714 exon2 c.5584+3G>A 0.130192 0.4603 0.045287 0.1139 0.4693 Pathogenic 5_173035493_A->G 5 173035493 173035493 A G snp 578.77 1/1 42 21 0 21 1.0 intronic rs258860 BOD1 AU NM_001159651 exon1 c.28+198A>G 0.592252 0.8274 Uncertain 5_173316729_G->A 5 173316729 173316729 G A snp 1393.77 0/1 99 110 53 57 0.52 UTR5 rs359467 CPEB4 AU 0.551917 0.3591 0.673562 0.6471 0.3519 Uncertain 5_173380346_C->T 5 173380346 173380346 C T snp 528.77 0/1 99 43 22 21 0.49 intronic rs969518 CPEB4 AU NM_030627 exon9 c.63539+71C>T 0.483227 0.3343 0.5380 0.3246 Uncertain 5_174152100_G->A 5 174152100 174152100 G A snp 3151.77 1/1 99 116 1 115 0.99 intronic rs2048152 MSX2 AD NM_002449 exon1 c.379+59G>A 0.795327 0.9812 0.8953 0.9827 Uncertain 5_174156168_T->C 5 174156168 174156168 T C snp 4674.77 1/1 99 165 0 165 1.0 exonic rs4242182 MSX2 AD nonsynonymous SNV NM_002449 exon2 c.T386C p.M129T 0.765775 0.9821 0.755267 0.8757 0.9832 0.2 T 1.0 P -0.907 T 0.0 T 0.001 T ID=CM1111025;DIS=Neural tube defect, increased risk, association with;TAG=DP;PUB=21362336 DP Pathogenic 5_174178774_G->A 5 174178774 174178774 G A snp 2832.77 1/1 99 109 0 109 1.0 ncRNA_exonic rs7709117 MIR4634 AU 0.526757 0.5278 0.5 . Uncertain 5_174868700_G->A 5 174868700 174868700 G A snp 1307.77 1/1 99 42 0 42 1.0 UTR3 rs686 DRD1 AU 0.605032 0.8452 ID=CR082013;DIS=Nicotine dependence, association with;TAG=DFP;PUB=18092181 DFP Uncertain 5_174868840_T->C 5 174868840 174868840 T C snp 4346.77 1/1 99 155 0 155 1.0 exonic rs155417 DRD1 AU synonymous SNV NM_000794 exon2 c.A1263G p.S421S 0.993011 1 0.987083 0.9877 1 ID=CM931409;DIS=Schizophrenia, association with;TAG=DFP;PUB=8471124 DFP Uncertain 5_174870150_C->T 5 174870150 174870150 C T snp 2336.77 1/1 99 80 0 80 1.0 UTR5 rs4532 DRD1 AU 0.755391 0.8462 0.711986 0.6801 0.8574 ID=CR004740;DIS=Essential hypertension, association with;TAG=DP;PUB=10948075 DP Uncertain 5_174935829_C->T 5 174935829 174935829 C T snp 77.78 0/1 24 4 1 3 0.75 intronic rs112182761 SFXN1 AU NM_022754 exon3 c.16928-205C>T 0.0866613 0.0407 Uncertain 5_174935916_A->G 5 174935916 174935916 A G snp 908.77 0/1 99 74 35 39 0.53 intronic rs2662168 SFXN1 AU NM_022754 exon3 c.16928-118A>G 0.391973 0.3026 Uncertain 5_174936038_A->G 5 174936038 174936038 A G snp 2171.77 0/1 99 205 111 94 0.46 exonic rs35420613 SFXN1 AU synonymous SNV NM_022754 exon3 c.A168G p.Q56Q 0.0513179 0.0228 0.052976 0.0811 0.0206 Uncertain 5_174943552_A->- 5 174943552 174943552 A - indel 827.73 0/1 99 52 20 32 0.62 intronic rs3215174 SFXN1 AU NM_022754 exon8 c.24510-64delA 0.179313 0.1677 0.199681 Uncertain 5_174948816_A->C 5 174948816 174948816 A C snp 644.77 0/1 99 54 30 24 0.44 intronic rs6892767 SFXN1 AU NM_022754 exon9 c.29815-105A>C Uncertain 5_174949475_C->A 5 174949475 174949475 C A snp 1242.77 0/1 99 132 74 58 0.44 intronic rs6897931 SFXN1 AU NM_022754 exon10 c.30319+50C>A 0.067492 0.0228 0.035676 0.0416 0.0206 Uncertain 5_175305591_C->T 5 175305591 175305591 C T snp 212.84 1/1 18 8 0 8 1.0 intronic rs3892909 CPLX2 AU 0.659145 0.9107 Uncertain 5_175307256_T->C 5 175307256 175307256 T C snp 836.77 0/1 99 105 66 39 0.37 UTR3 rs3822674 CPLX2 AU 0.494808 0.5625 0.4912 0.5963 ID=CR109408;DIS=Reduced cognitive performance, in schizophrenia, association with;TAG=DFP;PUB=20819981 DFP Uncertain 5_175307293_-->G 5 175307293 175307293 - G indel 1219.73 0/1 99 74 25 49 0.66 UTR3 rs150763264 CPLX2 AU 0.1252 0.2401 0.0901 0.2035 Uncertain 5_175307373_G->A 5 175307373 175307373 G A snp 262.77 0/1 99 15 7 8 0.53 UTR3 rs11747985 CPLX2 AU 0.408746 0.4335 Uncertain 5_175387011_G->A 5 175387011 175387011 G A snp 54.77 0/1 83 56 43 13 0.23 exonic rs201219088 THOC3 AU synonymous SNV NM_032361 exon6 c.C1017T p.A339A 0.002056 0.0332 0.1973 Uncertain 5_175387139_C->T 5 175387139 175387139 C T snp 514.77 1/1 51 50 0 50 1.0 splicing rs79720333 THOC3 AU NM_032361 exon1 c.164+4C>T 0.2868 0.2993 Pathogenic 5_175394008_G->A 5 175394008 175394008 G A snp 35.74 1/1 6 2 0 2 1.0 intronic rs199558130 THOC3 AU NM_032361 exon5 c.7142-105G>A Uncertain 5_175394181_G->A 5 175394181 175394181 G A snp 413.77 1/1 42 194 79 115 0.59 exonic rs200408233 THOC3 AU synonymous SNV NM_032361 exon2 c.C357T p.S119S 0.5276 0.5034 Uncertain 5_175511992_C->T 5 175511992 175511992 C T snp 2553.77 0/1 99 239 129 110 0.46 intronic rs4466183 FAM153B AU 0.272963 0.3075 0.3719 0.2876 Uncertain 5_175512211_C->T 5 175512211 175512211 C T snp 218.77 0/1 99 14 7 7 0.5 intronic rs12520581 FAM153B AU 0.409145 0.3095 Uncertain 5_175528527_A->T 5 175528527 175528527 A T snp 345.77 0/1 99 96 43 53 0.55 intronic rs116633144 FAM153B AU NM_001265615 exon11 c.12032-26A>T 0.2711 0.1842 Uncertain 5_175530166_G->C 5 175530166 175530166 G C snp 531.77 0/1 99 230 191 39 0.17 intronic rs146119027 FAM153B AU NM_001265615 exon12 c.13708-63G>C Uncertain 5_175716643_C->A 5 175716643 175716643 C A snp 969.77 0/1 99 93 53 40 0.43 intronic rs185093962 SIMC1 AU NM_198567 exon2 c.56521-5389C>A 0.00159744 0.0079 0.0009 0.0103 Uncertain 5_175740782_G->A 5 175740782 175740782 G A snp 485.77 0/1 99 61 41 20 0.33 exonic rs77758389 SIMC1 AU nonsynonymous SNV NM_198567 exon4 c.G521A p.R174Q 0.00199681 0.0079 0.0007 0.0079 0.38 T 1.000 N -1.081 T 0.274 T 0.036 T Pathogenic 5_175772015_C->G 5 175772015 175772015 C G snp 425.77 1/1 33 11 0 11 1.0 intronic rs417852 SIMC1 AU NM_198567 exon9 c.106674-170C>G 0.486821 0.5308 Uncertain 5_175792605_G->C 5 175792605 175792605 G C snp 6122.77 1/1 99 230 0 230 1.0 exonic rs2303667 ARL10 AU synonymous SNV NM_173664 exon1 c.G39C p.L13L 0.55651 0.5556 0.584021 0.6642 0.6909 Uncertain 5_175793717_C->T 5 175793717 175793717 C T snp 1150.77 1/1 84 35 0 35 1.0 intronic rs3815898 ARL10 AU NM_173664 exon2 c.1018+133C>T 0.695887 0.6687 Uncertain 5_175811094_-->GT 5 175811094 175811094 - GT indel 10535.7 1/1 99 243 0 243 1.0 exonic rs397961096 NOP16 AU frameshift insertion NM_001256539 exon5 c.586_587insAC p.R196fs 0.8471 0.7390 Pathogenic 5_175843462_G->- 5 175843462 175843462 G - indel 768.73 1/1 63 26 0 26 1.0 UTR5 rs33956988 CLTB AU 1 1 Uncertain 5_175915835_C->T 5 175915835 175915835 C T snp 1184.77 1/1 87 45 0 45 1.0 intronic rs2963667 FAF2 AU NM_014613 exon4 c.40543-116C>T Uncertain 5_175934527_A->T 5 175934527 175934527 A T snp 114.77 0/1 99 9 5 4 0.44 UTR3 rs189768289 FAF2 AU 0.00199681 0.001 Uncertain 5_175956177_G->A 5 175956177 175956177 G A snp 6075.77 1/1 99 216 0 216 1.0 intronic rs2241584 RNF44 AU NM_014901 exon1 c.63+86G>A 0.315495 0.3115 0.3710 0.3372 0.0 P -0.937 T Uncertain 5_175956271_A->C 5 175956271 175956271 A C snp 5258.77 1/1 99 181 1 180 0.99 intronic rs890835 RNF44 AU NM_014901 exon2 c.260-17A>C 0.850839 0.7907 0.914809 0.8604 0.7784 0.0 P -1.045 T Uncertain 5_175992258_A->G 5 175992258 175992258 A G snp 2648.77 1/1 99 94 0 94 1.0 intronic rs6556275 CDHR2 AU 0.846446 0.8413 Uncertain 5_175992266_C->G 5 175992266 175992266 C G snp 916.77 0/1 99 99 61 38 0.38 intronic rs11749894 CDHR2 AU 0.267971 0.3313 Uncertain 5_175994173_-->T 5 175994173 175994173 - T indel 170.8 1/1 18 31 1 30 0.97 intronic rs11392917 CDHR2 AU NM_017675 exon3 c.391+1429insT 0.78115 0.8631 Uncertain 5_175995571_C->G 5 175995571 175995571 C G snp 116.77 0/1 99 8 4 4 0.5 intronic rs12716317 CDHR2 AU NM_017675 exon4 c.3325-107C>G 0.634784 0.5149 Uncertain 5_175995787_A->G 5 175995787 175995787 A G snp 3085.77 0/1 99 247 123 124 0.5 exonic rs760097080 CDHR2 AU nonsynonymous SNV NM_001171976 exon4 c.A233G p.E78G 8.246e-06 0.0001 0.4 T 1.000 N -0.926 T 0.651 T 0.15 P Pathogenic 5_175995835_G->A 5 175995835 175995835 G A snp 2371.77 0/1 99 204 108 96 0.47 intronic rs36070803 CDHR2 AU NM_017675 exon4 c.3465+17G>A 0.252796 0.4851 0.156774 0.2318 0.4925 Uncertain 5_175995913_C->A 5 175995913 175995913 C A snp 2603.77 0/1 99 211 109 102 0.48 intronic rs36018611 CDHR2 AU NM_017675 exon5 c.3607-47C>A 0.240815 0.4851 0.145471 0.2275 0.4913 Uncertain 5_175995935_C->T 5 175995935 175995935 C T snp 2564.77 0/1 99 235 118 117 0.5 intronic rs10056130 CDHR2 AU NM_017675 exon5 c.3607-25C>T 0.511382 0.3562 0.639397 0.6381 0.3618 Uncertain 5_175998208_T->G 5 175998208 175998208 T G snp 591.77 0/1 99 46 19 27 0.59 splicing rs6867593 CDHR2 AU NM_017675 exon6 c.5860-5T>G 0.320288 0.4841 0.229663 0.2673 0.4960 Pathogenic 5_175998246_T->C 5 175998246 175998246 T C snp 567.77 0/1 99 47 20 27 0.57 exonic rs17078320 CDHR2 AU synonymous SNV NM_001171976 exon6 c.T348C p.D116D 0.320687 0.4841 0.229740 0.2556 0.4914 Uncertain 5_175998334_A->C 5 175998334 175998334 A C snp 394.77 0/1 99 31 14 17 0.55 intronic rs10075573 CDHR2 AU NM_017675 exon6 c.5950+31A>C 0.320288 0.4841 0.229545 0.2614 0.4945 Uncertain 5_175998397_A->G 5 175998397 175998397 A G snp 109.77 0/1 99 11 6 5 0.45 intronic rs10075586 CDHR2 AU NM_017675 exon6 c.5950+94A>G 0.36222 0.4831 Uncertain 5_176001189_G->A 5 176001189 176001189 G A snp 512.77 0/1 99 89 60 29 0.33 intronic rs1078628 CDHR2 AU NM_017675 exon7 c.8820+16G>A 0.253594 0.4702 0.176841 0.2549 0.4901 Uncertain 5_176001234_C->G 5 176001234 176001234 C G snp 322.77 0/1 99 61 45 16 0.26 intronic rs34961087 CDHR2 AU NM_017675 exon7 c.8820+61C>G 0.240016 0.4702 Uncertain 5_176001975_T->C 5 176001975 176001975 T C snp 550.77 1/1 42 14 0 14 1.0 intronic rs1078450 CDHR2 AU NM_017675 exon8 c.9731-109T>C 0.837859 0.8403 Uncertain 5_176002144_A->C 5 176002144 176002144 A C snp 5802.77 1/1 99 207 0 207 1.0 exonic rs4242200 CDHR2 AU synonymous SNV NM_001171976 exon8 c.A555C p.I185I 0.841653 0.8403 0.887052 0.9033 0.8539 Uncertain 5_176002873_C->T 5 176002873 176002873 C T snp 4251.77 1/1 99 156 0 156 1.0 intronic rs3762969 CDHR2 AU NM_017675 exon11 c.10487+33C>T 0.773163 0.8403 0.825646 0.8699 0.8748 Uncertain 5_176002926_C->A 5 176002926 176002926 C A snp 5949.77 1/1 99 215 0 215 1.0 intronic rs3762968 CDHR2 AU NM_017675 exon12 c.10599-26C>A 0.769768 0.8403 0.815085 0.8906 0.8645 Uncertain 5_176004312_A->G 5 176004312 176004312 A G snp 628.77 1/1 48 21 0 21 1.0 intronic rs11749537 CDHR2 AU NM_017675 exon13 c.12046-87A>G 0.998403 1 Uncertain 5_176004476_T->C 5 176004476 176004476 T C snp 3882.77 1/1 99 138 0 138 1.0 exonic rs11134982 CDHR2 AU nonsynonymous SNV NM_001171976 exon13 c.T1271C p.V424A 0.93131 1 0.932472 0.9803 1 0.81 T 0.0 P -0.982 T 0.0 T 0.0 T Pathogenic 5_176004846_C->T 5 176004846 176004846 C T snp 2039.77 1/1 99 65 0 65 1.0 intronic rs1565149 CDHR2 AU NM_017675 exon14 c.12446+47C>T 0.809305 0.8194 0.853692 0.8442 0.7819 Uncertain 5_176004866_-->GT 5 176004866 176004866 - GT indel 1040.73 1/1 75 41 0 41 1.0 intronic rs35146200 CDHR2 AU NM_017675 exon14 c.12446+67insGT 0.740815 0.7917 Uncertain 5_176005175_A->C 5 176005175 176005175 A C snp 861.77 0/1 99 57 24 33 0.58 intronic rs1565150 CDHR2 AU NM_017675 exon15 c.12743+79A>C 0.498802 0.37 Uncertain 5_176005184_G->A 5 176005184 176005184 G A snp 822.77 0/1 99 57 23 34 0.6 intronic rs1565151 CDHR2 AU NM_017675 exon15 c.12743+88G>A 0.653155 0.5496 Uncertain 5_176005477_C->T 5 176005477 176005477 C T snp 1939.77 0/1 99 152 66 86 0.57 exonic rs2358747 CDHR2 AU synonymous SNV NM_001171976 exon16 c.C1686T p.D562D 0.653554 0.5516 0.723666 0.7243 0.5357 Uncertain 5_176008238_G->T 5 176008238 176008238 G T snp 923.77 1/1 69 30 0 30 1.0 intronic rs4867840 CDHR2 AU NM_017675 exon17 c.15990-105G>T 0.73143 0.8165 Uncertain 5_176011264_T->C 5 176011264 176011264 T C snp 995.77 0/1 99 83 42 41 0.49 splicing rs752139 CDHR2 AU NM_017675 exon18 c.18907+4T>C 0.557907 0.3502 0.698447 0.6475 0.3545 Pathogenic 5_176011984_C->T 5 176011984 176011984 C T snp 1149.77 0/1 99 96 49 47 0.49 exonic rs35018750 CDHR2 AU nonsynonymous SNV NM_001171976 exon19 c.C2702T p.T901M 0.00419329 0.011503 0.0116 0 0 D 0.966 D -0.176 T 1.0 D 0.994 D Pathogenic 5_176012067_C->T 5 176012067 176012067 C T snp 356.77 0/1 99 28 14 14 0.5 intronic rs11745507 CDHR2 AU NM_017675 exon19 c.19663+51C>T 0.286741 0.3214 0.243564 0.2926 0.3458 Uncertain 5_176012800_C->T 5 176012800 176012800 C T snp 80.77 0/1 63 5 2 3 0.6 intronic rs3749627 CDHR2 AU NM_017675 exon20 c.20601-154C>T 0.33107 0.3234 Uncertain 5_176017455_C->T 5 176017455 176017455 C T snp 747.77 0/1 99 69 38 31 0.45 exonic rs2291442 CDHR2 AU nonsynonymous SNV NM_001171976 exon27 c.C3383T p.T1128M 0.282149 0.3194 0.282101 0.2636 0.3287 0.12 T 0.0 P -0.999 T 0.007 T 0.002 T Pathogenic 5_176017639_C->A 5 176017639 176017639 C A snp 676.77 0/1 99 55 24 31 0.56 exonic rs17078347 CDHR2 AU nonsynonymous SNV NM_001171976 exon28 c.C3490A p.L1164M 0.238219 0.4395 0.161771 0.2459 0.4574 0.1 T 0.0 P -0.916 T 0.966 D 0.564 D Pathogenic 5_176018090_C->T 5 176018090 176018090 C T snp 46.77 0/1 33 3 1 2 0.67 intronic rs3792728 CDHR2 AU NM_017675 exon29 c.25857-120C>T 0.283746 0.3194 Uncertain 5_176018545_G->A 5 176018545 176018545 G A snp 2150.77 1/1 99 69 0 69 1.0 intronic rs11134984 CDHR2 AU NM_017675 exon30 c.26132+60G>A 0.770567 0.7887 0.831800 Uncertain 5_176024880_C->T 5 176024880 176024880 C T snp 6249.77 1/1 99 210 0 210 1.0 exonic rs4868663 GPRIN1 AU synonymous SNV NM_052899 exon2 c.G1956A p.G652G 0.827276 0.7887 0.892050 0.8991 0.8074 Uncertain 5_176025938_T->C 5 176025938 176025938 T C snp 3932.77 1/1 99 134 0 134 1.0 exonic rs6556276 GPRIN1 AU nonsynonymous SNV NM_052899 exon2 c.A898G p.M300V 0.998203 1 0.996848 0.9993 0.9999 0.37 T 0.0 P -1.009 T 0.0 T 0.0 T Pathogenic 5_176026120_CTCAAAGACCCAGGATCCTCCTTC->- 5 176026120 176026143 CTCAAAGACCCAGGATCCTCCTTC - indel 11390.7 0/1 99 127 59 68 0.54 exonic rs142779818 GPRIN1 AU nonframeshift deletion NM_052899 exon2 c.693_716del p.231_239del 0.195846 1.272e-05 0.0002 ID=COSM1436171;OCCURENCE=1(urinary_tract),4(large_intestine) Uncertain 5_176026146_C->T 5 176026146 176026146 C T snp 1204.77 0/1 99 100 48 52 0.52 exonic rs79403503 GPRIN1 AU synonymous SNV NM_052899 exon2 c.G690A p.P230P 7.074e-05 0 Uncertain 5_176047761_G->A 5 176047761 176047761 G A snp 671.77 0/1 99 59 29 30 0.51 UTR3 rs2075667 SNCB AD 0.166134 0.4514 0.051523 0.1188 0.4774 Uncertain 5_176053337_GT->- 5 176053337 176053338 GT - indel 348.92 0/1 5 12 1 11 0.92 intronic rs34291196 SNCB AD NM_003085 exon3 c.5587-61_5587-60delGT 0.53734 0.7083 Uncertain 5_176053622_G->A 5 176053622 176053622 G A snp 1422.77 0/1 99 127 65 62 0.49 intronic rs2291440 SNCB AD NM_003085 exon4 c.5909-98G>A 0.166933 0.4365 0.1198 0.4654 Uncertain 5_176056529_A->G 5 176056529 176056529 A G snp 1385.77 1/1 99 57 0 57 1.0 splicing rs4868669 SNCB AD NM_003085 exon5 c.8723-5A>G 0.976637 1 0.970475 0.9922 1 Pathogenic 5_176069831_G->A 5 176069831 176069831 G A snp 1239.77 1/1 96 41 0 41 1.0 intronic rs901740 EIF4E1B AU NM_001099408 exon3 c.15+28G>A 0.966054 1 0.968251 0.9879 0.9990 Uncertain 5_176082912_C->A 5 176082912 176082912 C A snp 301.78 1/1 24 8 0 8 1.0 intronic rs6897431 TSPAN17 AU NM_130465 exon6 c.8462-166C>A 0.941893 1 Uncertain 5_176083175_T->G 5 176083175 176083175 T G snp 1942.77 1/1 99 66 0 66 1.0 intronic rs6878977 TSPAN17 AU NM_012171 exon6 c.8519+40T>G 0.96865 1 0.959250 0.9892 1 Uncertain 5_176083997_G->A 5 176083997 176083997 G A snp 3881.77 1/1 99 136 0 136 1.0 intronic rs4868677 TSPAN17 AU NM_130465 exon8 c.9341+40G>A 0.591254 0.4871 0.673180 0.6980 0.4972 Uncertain 5_176304399_A->G 5 176304399 176304399 A G snp 1057.77 0/1 99 70 29 41 0.59 intronic rs2304517 UNC5A AU NM_133369 exon9 c.66529+119A>G 0.853035 0.6627 Uncertain 5_176305466_T->A 5 176305466 176305466 T A snp 2793.77 0/1 99 250 131 119 0.48 intronic rs2304516 UNC5A AU NM_133369 exon13 c.67724-9T>A 0.654390 0.7287 0.6040 Uncertain 5_176308870_-->AG 5 176308870 176308870 - AG indel 5980.73 0/1 99 246 121 125 0.51 intronic rs61042413 HK3 AU NM_002115 exon3 c.775+22insAG 0.22484 0.2827 0.166214 0.2128 0.2868 Uncertain 5_176313982_C->T 5 176313982 176313982 C T snp 1296.77 0/1 99 98 43 55 0.56 intronic rs2278494 HK3 AU NM_002115 exon7 c.5929-20C>T 0.0213658 0.0794 0.000769 0.0090 0.0864 Uncertain 5_176316201_A->G 5 176316201 176316201 A G snp 43.77 0/1 72 4 2 2 0.5 intronic rs691057 HK3 AU NM_002115 exon12 c.8308-180A>G 0.63099 0.5774 Uncertain 5_176338114_AAGAA->- 5 176338114 176338118 AAGAA - indel 672.73 1/1 33 11 0 11 1.0 intronic rs200691162 UIMC1 AU NM_001199297 exon5 c.6029-197_6029-193delAAGAA Uncertain 5_176516953_A->G 5 176516953 176516953 A G snp 1519.77 1/1 99 52 0 52 1.0 intronic rs434434 FGFR4 AU NM_002011 exon2 c.91+259A>G 0.853035 1 0.8696 1 Uncertain 5_176517136_-->GTGT 5 176517136 176517136 - GTGT indel 1246.52 1/1 7 25 1 24 0.96 intronic rs397943303 FGFR4 AU NM_002011 exon3 c.787-254insGTGT 0.772963 0.9702 0.4931 0.5340 Uncertain 5_176517170_G->A 5 176517170 176517170 G A snp 1490.77 1/1 99 54 0 54 1.0 intronic rs387598 FGFR4 AU NM_002011 exon3 c.787-220G>A 0.806909 1 0.8248 0.9879 Uncertain 5_176517292_A->G 5 176517292 176517292 A G snp 4002.77 1/1 99 149 0 149 1.0 intronic rs442856 FGFR4 AU NM_002011 exon3 c.787-98A>G 0.852636 1 0.8382 0.9995 0 D 0.000 P -0.901 T Uncertain 5_176517326_T->C 5 176517326 176517326 T C snp 3943.77 1/1 99 149 0 149 1.0 intronic rs422421 FGFR4 AU NM_002011 exon3 c.787-64T>C 0.853035 1 0.8318 0.9996 Uncertain 5_176517461_T->G 5 176517461 176517461 T G snp 2470.77 1/1 99 82 0 82 1.0 exonic rs446382 FGFR4 AU synonymous SNV NM_002011 exon3 c.T162G p.R54R 0.775958 0.9772 0.683231 0.7647 0.9726 Uncertain 5_176517797_C->T 5 176517797 176517797 C T snp 8166.77 1/1 99 249 0 249 1.0 exonic rs376618 FGFR4 AU nonsynonymous SNV NM_002011 exon4 c.C407T p.P136L 0.807308 1 0.721052 0.7950 0.9995 0.33 T 0.0 P -0.960 T 0.001 T 0.002 T Pathogenic 5_176518784_C->T 5 176518784 176518784 C T snp 1697.77 1/1 99 66 1 65 0.98 exonic rs452885 FGFR4 AU synonymous SNV NM_002011 exon6 c.C702T p.R234R 0.807109 1 0.721129 0.7949 0.9995 Uncertain 5_176519287_G->A 5 176519287 176519287 G A snp 989.77 1/1 72 30 0 30 1.0 intronic rs393923 FGFR4 AU NM_002011 exon7 c.2718-34G>A 0.899361 1 0.820246 0.8422 0.9998 Uncertain 5_176520243_G->A 5 176520243 176520243 G A snp 4443.77 1/1 99 141 1 140 0.99 exonic rs351855 FGFR4 AU nonsynonymous SNV NM_002011 exon9 c.G1162A p.G388R 0.299521 0.4633 0.242308 0.3210 0.4495 0.04 T 1.0 P -0.884 T 0.998 D 0.7 D CLINSIG=pathogenic;CLNDBN=Cancer_progression_and_tumor_cell_motility;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000017723.26;CLNDSDB=.;CLNDSDBID=. ID=CM023917;DIS=Cancer, accelerated progression, association with;TAG=DFP;PUB=11830541 DFP Pathogenic 5_176522728_C->T 5 176522728 176522728 C T snp 307.78 1/1 24 9 0 9 1.0 splicing rs42409 FGFR4 AU NM_002011 exon13 c.6121+4C>T 0.701877 0.9742 0.598416 0.7280 0.9716 Pathogenic 5_176523562_C->A 5 176523562 176523562 C A snp 3503.77 1/1 99 129 0 129 1.0 intronic rs31777 FGFR4 AU NM_002011 exon16 c.7001-42C>A 0.852835 1 0.772105 0.8272 0.9995 Uncertain 5_176523597_A->G 5 176523597 176523597 A G snp 3718.77 1/1 99 140 0 140 1.0 intronic rs31776 FGFR4 AU NM_002011 exon16 c.7001-7A>G 0.785343 0.9762 0.688913 0.7643 0.9726 Uncertain 5_176630984_T->C 5 176630984 176630984 T C snp 185.9 1/1 15 7 0 7 1.0 intronic rs7721671 NSD1 AD NM_022455 exon4 c.69016-136T>C 0.891773 1 Uncertain 5_176636546_G->A 5 176636546 176636546 G A snp 56.74 1/1 6 2 0 2 1.0 intronic rs201076688 NSD1 AD NM_022455 exon5 c.74532-90G>A 0.23123 0.3532 Uncertain 5_176636882_C->T 5 176636882 176636882 C T snp 6346.77 1/1 99 232 1 231 1.0 exonic rs1363405 NSD1 AD synonymous SNV NM_022455 exon5 c.C1482T p.C494C 0.468051 0.5298 0.354144 0.2999 0.5314 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_multiple_submitters\x2c_no_conflicts;CLNACC=RCV000082100.4;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 5_176637149_G->A 5 176637149 176637149 G A snp 5986.77 1/1 99 214 0 214 1.0 exonic rs3733874 NSD1 AD synonymous SNV NM_022455 exon5 c.G1749A p.E583E 0.100431 0.1765 0.5123 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_multiple_submitters\x2c_no_conflicts;CLNACC=RCV000082103.4;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 5_176637240_G->T 5 176637240 176637240 G T snp 5318.77 1/1 99 182 1 181 0.99 exonic rs3733875 NSD1 AD nonsynonymous SNV NM_022455 exon5 c.G1840T p.V614L 0.228634 0.5119 0.099339 0.1762 0.5123 0.0 P -0.976 T 0.002 T 0.009 T CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_multiple_submitters\x2c_no_conflicts;CLNACC=RCV000082107.4;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 5_176637576_T->C 5 176637576 176637576 T C snp 7069.77 1/1 99 250 1 249 1.0 exonic rs28932178 NSD1 AD nonsynonymous SNV NM_022455 exon5 c.T2176C p.S726P 0.249601 0.5119 0.126326 0.1987 0.5125 0.000 P -1.012 T 0.999 D 0.929 D CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_multiple_submitters\x2c_no_conflicts;CLNACC=RCV000082108.4;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 5_176639217_-->A 5 176639217 176639217 - A indel 732.77 1/1 21 59 4 55 0.93 intronic rs35159794 NSD1 AD NM_022455 exon5 c.77092+21insA 0.246805 0.3889 0.3093 0.4589 Uncertain 5_176639304_C->G 5 176639304 176639304 C G snp 520.77 1/1 39 14 0 14 1.0 intronic rs6556305 NSD1 AD NM_022455 exon5 c.77092+108C>G 0.962859 1 Uncertain 5_176764585_C->A 5 176764585 176764585 C A snp 739.77 0/1 99 47 19 28 0.6 intronic rs148795265 LMAN2 AU NM_006816 exon4 c.5439+60C>A 0.000998403 0.005 Uncertain 5_176798040_T->G 5 176798040 176798040 T G snp 561.77 0/1 99 66 44 22 0.33 intronic rs56235845 RGS14 AU NM_006480 exon11 c.13007+8T>G 0.381989 0.2034 0.360143 0.3831 0.2674 Uncertain 5_176798306_G->A 5 176798306 176798306 G A snp 2628.77 0/1 99 202 90 112 0.55 intronic rs11746443 RGS14 AU NM_006480 exon13 c.13325-44G>A 0.177316 0.1429 0.204404 0.2436 0.1542 Uncertain 5_176813404_C->T 5 176813404 176813404 C T snp 2518.77 0/1 99 195 92 103 0.53 intronic rs3812036 SLC34A1 AR,AD NM_001167579 exon5 c.681-19C>T 0.174321 0.1488 0.191911 0.2274 0.1586 Uncertain 5_176814656_G->A 5 176814656 176814656 G A snp 799.77 1/1 60 23 0 23 1.0 intronic rs33921462 SLC34A1 AR,AD NM_001167579 exon6 c.2020-106G>A 0.180711 0.1875 Uncertain 5_176815124_T->C 5 176815124 176815124 T C snp 6369.77 1/1 99 232 0 232 1.0 exonic rs5030873 SLC34A1 AR,AD synonymous SNV NM_003052 exon7 c.T774C p.H258H 0.212859 0.2073 0.242196 0.2924 0.2305 Uncertain 5_176823596_C->G 5 176823596 176823596 C G snp 415.77 1/1 33 13 0 13 1.0 intronic rs74723663 SLC34A1 AR,AD NM_003052 exon11 c.10991-137C>G Uncertain 5_176824137_C->G 5 176824137 176824137 C G snp 54.74 1/1 6 2 0 2 1.0 intronic rs7447593 SLC34A1 AR,AD NM_003052 exon12 c.11333+62C>G 0.258786 0.2123 Uncertain 5_176830627_G->A 5 176830627 176830627 G A snp 632.77 1/1 48 22 1 21 0.95 intronic rs17876032 F12 AR,AD NM_000505 exon4 c.1326+9G>A 0.323482 0.2133 0.488358 0.5383 0.2530 Uncertain 5_176831119_A->G 5 176831119 176831119 A G snp 3786.77 1/1 99 137 0 137 1.0 intronic rs17876031 F12 AR,AD NM_000505 exon5 c.1799+28A>G 0.421526 0.2133 0.587427 0.5778 0.2801 Uncertain 5_176831178_C->- 5 176831178 176831178 C - indel 3117.73 1/1 99 103 0 103 1.0 intronic rs35966430 F12 AR,AD NM_000505 exon6 c.1904-18delC 0.418331 0.2163 0.6173 0.3786 Uncertain 5_176831826_C->G 5 176831826 176831826 C G snp 1208.77 1/1 87 41 0 41 1.0 exonic rs17876030 F12 AR,AD nonsynonymous SNV NM_000505 exon7 c.G619C p.A207P 0.939497 0.8849 0.976902 0.9577 0.8922 0.4 T 0.000 P -0.970 T 0.0 T 0.0 T Pathogenic 5_176831980_T->C 5 176831980 176831980 T C snp 2967.77 1/1 99 104 0 104 1.0 intronic rs17876029 F12 AR,AD NM_000505 exon8 c.2623+65T>C 0.940895 0.8859 Uncertain 5_176833218_G->A 5 176833218 176833218 G A snp 219.77 0/1 99 17 10 7 0.41 intronic rs17876027 F12 AR,AD NM_000505 exon12 c.3770+156G>A 0.014976 0.0565 Uncertain 5_176836532_A->G 5 176836532 176836532 A G snp 6126.77 1/1 99 209 0 209 1.0 UTR5 rs1801020 F12 AR,AD 0.527556 0.2371 0.693372 0.6546 0.2520 CLINSIG=non-pathogenic;CLNDBN=FACTOR_XII_POLYMORPHISM;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000001226.2;CLNDSDB=.;CLNDSDBID=. ID=CR982412;DIS=Premature myocardial infarction, association with;TAG=DFP;PUB=16411408 DFP Uncertain 5_176857769_A->G 5 176857769 176857769 A G snp 172.9 1/1 15 6 0 6 1.0 intronic rs28726329 GRK6 AU NM_002082 exon2 c.4026-103A>G 0.998602 1 Uncertain 5_176860293_T->C 5 176860293 176860293 T C snp 2631.77 0/1 99 250 143 107 0.43 intronic rs2287694 GRK6 AU NM_002082 exon6 c.6394+53T>C 0.172125 0.3552 0.080377 Uncertain 5_176885178_A->G 5 176885178 176885178 A G snp 2920.77 1/1 99 101 0 101 1.0 exonic rs28538572 DBN1 AU nonsynonymous SNV NM_004395 exon12 c.T1657C p.S553P 0.998802 1 0.998691 0.9995 1 1 T 0.000 P -0.912 T 0.0 T 0.001 T Pathogenic 5_176895817_G->A 5 176895817 176895817 G A snp 3662.77 1/1 99 126 0 126 1.0 intronic rs446104 DBN1 AU NM_080881 exon13 c.11411-27G>A 0.911542 1 0.898431 0.9593 0.9998 Uncertain 5_176895818_C->A 5 176895818 176895818 C A snp 3599.77 1/1 99 127 0 127 1.0 intronic rs371070 DBN1 AU NM_080881 exon13 c.11411-26C>A 0.911542 1 0.898508 0.9593 0.9998 Uncertain 5_176915143_C->T 5 176915143 176915143 C T snp 2121.77 0/1 99 233 129 104 0.45 exonic rs2306764 PDLIM7 AU nonsynonymous SNV NM_005451 exon10 c.G976A p.A326T 0.135184 0.2907 0.065749 0.0770 0.3103 0.58 T 1.000 P -1.065 T 0.889 T 0.419 P Pathogenic 5_176916516_C->T 5 176916516 176916516 C T snp 1461.77 0/1 99 141 76 65 0.46 exonic rs335462 PDLIM7 AU synonymous SNV NM_005451 exon9 c.G747A p.P249P 0.4375 0.3889 0.475739 0.5012 0.3915 0.33 T 0.002 P -0.938 T 0.003 T 0.01 T Likely benign 5_176917078_T->C 5 176917078 176917078 T C snp 1023.77 0/1 99 66 27 39 0.59 intronic rs734825 PDLIM7 AU NM_203352 exon6 c.6189+245T>C 0.852636 0.7083 0.9328 0.7217 0.71 T 0.0 P -1.011 T 0.0 T 0.0 T Uncertain 5_176930135_G->A 5 176930135 176930135 G A snp 3104.77 1/1 99 111 0 111 1.0 exonic rs28376231 DOK3 AU nonsynonymous SNV NM_001144876 exon5 c.C598T p.R200C 0.988618 1 0.987516 0.9956 1 0.11 T 0.000 P -1.037 T 0.0 T 0.0 T Pathogenic 5_176930172_GAG->- 5 176930172 176930174 GAG - indel 8087.73 1/1 99 143 0 143 1.0 exonic rs138153794 DOK3 AU nonframeshift deletion NM_001144876 exon5 c.559_561del p.187_187del 0.533946 0.6121 0.500563 0.5665 0.6258 ID=COSM1292101;OCCURENCE=1(haematopoietic_and_lymphoid_tissue) Uncertain 5_176935216_C->- 5 176935216 176935216 C - indel 441.73 1/1 39 13 0 13 1.0 intronic rs398000034 DOK3 AU NM_001144875 exon4 c.5192-21delC 0.973243 1 0.969341 0.9904 0.9989 Uncertain 5_176936650_T->C 5 176936650 176936650 T C snp 2373.77 1/1 99 79 0 79 1.0 exonic rs28565502 DOK3 AU synonymous SNV NM_024872 exon2 c.A60G p.L20L 0.993011 1 0.991004 0.9974 1 Uncertain 5_176938681_C->T 5 176938681 176938681 C T snp 1844.77 1/1 99 51 0 51 1.0 UTR3 rs28695578 DDX41 AD 0.981629 1 Uncertain 5_176939051_T->C 5 176939051 176939051 T C snp 424.77 1/1 33 13 0 13 1.0 intronic rs28464438 DDX41 AD NM_016222 exon2 c.305-45T>C 0.993011 1 0.990850 0.9975 1 Uncertain 5_176939688_C->T 5 176939688 176939688 C T snp 6623.77 1/1 99 225 0 225 1.0 intronic rs28544348 DDX41 AD NM_016222 exon4 c.855+42C>T 0.979233 1 0.977472 0.9934 1 Uncertain 5_176939735_A->G 5 176939735 176939735 A G snp 7062.77 1/1 99 250 0 250 1.0 intronic rs335436 DDX41 AD NM_016222 exon5 c.989-45A>G 0.971246 1 0.966400 0.9905 1 Uncertain 5_176940871_G->C 5 176940871 176940871 G C snp 3745.77 1/1 99 132 0 132 1.0 intronic rs335439 DDX41 AD NM_016222 exon8 c.2057+23G>C 0.970647 1 0.966846 0.9908 1 Uncertain 5_176948821_T->A 5 176948821 176948821 T A snp 56.74 1/1 6 2 0 2 1.0 intronic rs28491669 FAM193B AU 0.993011 1 Uncertain 5_176950794_A->G 5 176950794 176950794 A G snp 1402.77 1/1 99 37 0 37 1.0 intronic rs28723606 FAM193B AU NM_001190946 exon3 c.1982-163A>G 0.993011 1 Uncertain 5_176950879_T->C 5 176950879 176950879 T C snp 5490.77 1/1 99 190 0 190 1.0 intronic rs28688891 FAM193B AU NM_001190946 exon3 c.1982-78T>C 0.993011 1 Uncertain 5_176951276_A->G 5 176951276 176951276 A G snp 4469.77 1/1 99 166 0 166 1.0 exonic rs337382 FAM193B AU nonsynonymous SNV NM_001190946 exon6 c.T2206C p.S736P 0.970847 1 0.969617 0.9921 1 1 T 0.000 P -0.931 T 0.0 T 0.0 T Pathogenic 5_176958397_G->A 5 176958397 176958397 G A snp 4639.77 1/1 99 185 0 185 1.0 intronic rs2306761 FAM193B AU NM_001190946 exon5 c.10468-1046G>A 0.102236 0.3085 0.023606 0.0859 0.3663 0.999 P -0.947 T Uncertain 5_176959296_T->G 5 176959296 176959296 T G snp 2351.77 1/1 99 64 0 64 1.0 intronic rs2246566 FAM193B AU NM_001190946 exon5 c.10468-147T>G 0.428315 0.628 Uncertain 5_176963349_G->A 5 176963349 176963349 G A snp 1925.77 1/1 99 74 0 74 1.0 intronic rs335460 FAM193B AU NM_001190946 exon6 c.14383-9G>A 0.790335 0.8333 0.841593 0.8963 0.8098 Uncertain 5_176981469_C->T 5 176981469 176981469 C T snp 130.03 1/1 12 4 0 4 1.0 UTR5 rs185798693 FAM193B AU 0.0984425 0.3065 1 . Uncertain 5_177019688_G->C 5 177019688 177019688 G C snp 6068.77 1/1 99 228 0 228 1.0 intronic rs4607363 TMED9 AU NM_017510 exon2 c.461+12G>C 0.971645 1 0.9778 0.9910 Uncertain 5_177027405_T->C 5 177027405 177027405 T C snp 215.77 0/1 99 27 17 10 0.37 intronic rs2306760 B4GALT7 AR NM_007255 exon1 c.50+144T>C 0.138179 0.3343 Uncertain 5_177031348_T->C 5 177031348 177031348 T C snp 2159.77 1/1 99 75 0 75 1.0 exonic rs11537644 B4GALT7 AR synonymous SNV NM_007255 exon2 c.T219C p.R73R 0.661342 0.7837 0.632650 0.6608 0.7514 Uncertain 5_177031602_C->G 5 177031602 177031602 C G snp 1892.77 1/1 99 64 0 64 1.0 intronic rs28499092 B4GALT7 AR NM_007255 exon2 c.4331+60C>G Uncertain 5_177031954_A->G 5 177031954 177031954 A G snp 844.77 0/1 99 76 42 34 0.45 intronic rs28742937 B4GALT7 AR NM_007255 exon2 c.4331+412A>G 0.617212 0.6796 Uncertain 5_177031967_T->C 5 177031967 177031967 T C snp 2440.77 1/1 99 86 0 86 1.0 intronic rs28698736 B4GALT7 AR NM_007255 exon2 c.4331+425T>C 0.966853 1 Uncertain 5_177032050_C->G 5 177032050 177032050 C G snp 1882.77 0/1 99 141 63 78 0.55 intronic rs28473516 B4GALT7 AR NM_007255 exon2 c.4331+508C>G 0.340455 0.3948 0.3433 0.3786 Uncertain 5_177034283_G->A 5 177034283 177034283 G A snp 1025.77 0/1 99 64 26 38 0.59 intronic rs138092105 B4GALT7 AR NM_007255 exon3 c.7091-19G>A 0.000798722 0.000384 0.0050 0 Uncertain 5_177035489_CCC->- 5 177035489 177035491 CCC - indel 2501.73 0/1 99 95 41 54 0.57 intronic rs142034531 B4GALT7 AR NM_007255 exon4 c.8328-50_8328-48delCCC 0.144569 0.3433 0.080640 Uncertain 5_177035964_T->C 5 177035964 177035964 T C snp 5992.77 1/1 99 219 0 219 1.0 exonic rs729459 B4GALT7 AR synonymous SNV NM_007255 exon5 c.T777C p.H259H 0.605032 0.7937 0.574812 0.5903 0.7778 Uncertain 5_177036043_A->G 5 177036043 177036043 A G snp 3881.77 1/1 99 134 0 134 1.0 intronic rs6600953 B4GALT7 AR NM_007255 exon5 c.8804+28A>G 0.993211 1 0.991465 0.9975 1 Uncertain 5_177053334_T->C 5 177053334 177053334 T C snp 1341.77 1/1 99 39 0 39 1.0 ncRNA_intronic rs5013573 LOC202181 AU 0.993211 1 Uncertain 5_177054650_TT->- 5 177054650 177054651 TT - indel 859.77 1/1 20 55 3 52 0.95 ncRNA_intronic rs542898391 LOC202181 AU 0.988219 1 0.3951 0.3780 Uncertain 5_177054656_T->C 5 177054656 177054656 T C snp 99.77 0/1 99 50 42 8 0.16 ncRNA_intronic rs757584608 LOC202181 AU 3.379e-05 0 Uncertain 5_177054658_T->C 5 177054658 177054658 T C snp 467.77 0/1 99 49 29 20 0.41 ncRNA_intronic rs779326905 LOC202181 AU 0.0007 0.0110 Uncertain 5_177054672_T->C 5 177054672 177054672 T C snp 945.77 1/1 69 32 0 32 1.0 ncRNA_intronic rs7728458 LOC202181 AU 0.984425 1 Uncertain 5_177058655_A->G 5 177058655 177058655 A G snp 5974.77 1/1 99 227 0 227 1.0 ncRNA_exonic rs6876792 LOC202181 AU 0.859026 0.9524 Uncertain 5_177058696_G->A 5 177058696 177058696 G A snp 2479.77 0/1 99 242 132 110 0.45 ncRNA_exonic rs3749822 LOC202181 AU 0.133586 0.3363 Uncertain 5_177058766_G->A 5 177058766 177058766 G A snp 1828.77 0/1 99 180 101 79 0.44 ncRNA_exonic rs2334991 LOC202181 AU 0.375998 0.4008 Uncertain 5_177151456_C->T 5 177151456 177151456 C T snp 53.77 0/1 82 7 4 3 0.43 intronic rs2270803 FAM153A AU NM_173663 exon2 c.250+93C>T 0.351238 0.3948 Uncertain 5_177161891_A->G 5 177161891 177161891 A G snp 889.77 1/1 69 40 0 40 1.0 exonic rs13360132 FAM153A AU synonymous SNV NM_173663 exon12 c.T477C p.G159G 0.9932 0.9987 Uncertain 5_177163580_A->G 5 177163580 177163580 A G snp 70.77 0/1 99 126 73 53 0.42 exonic rs201479484 FAM153A AU nonsynonymous SNV NM_173663 exon11 c.T433C p.F145L 0.224441 0.37 0.0276 0.0328 0.0 P -1.009 T 0.0 T 0.0 T Pathogenic 5_177180012_G->A 5 177180012 177180012 G A snp 309.77 0/1 99 60 44 16 0.27 intronic rs199881665 FAM153A AU NM_173663 exon19 c.24587+4312G>A Uncertain 5_177180236_G->A 5 177180236 177180236 G A snp 3314.77 1/1 99 105 1 104 0.99 intronic rs62398555 FAM153A AU NM_173663 exon19 c.24587+4536G>A 0.933506 0.999 0.9592 0.9990 Uncertain 5_177302646_T->C 5 177302646 177302646 T C snp 143.03 1/1 12 5 0 5 1.0 ncRNA_exonic rs774608117 LOC728554 AU Uncertain 5_177305797_G->A 5 177305797 177305797 G A snp 174.77 0/1 99 250 187 63 0.25 ncRNA_exonic rs201185054 LOC728554 AU 0.585663 0.3948 0.8832 0.5884 Uncertain 5_177309736_T->- 5 177309736 177309736 T - indel 618.73 0/1 99 64 44 20 0.31 ncRNA_exonic rs569705674 LOC728554 AU 0.0427316 0.1736 0.0448 0.2527 Uncertain 5_177310717_A->G 5 177310717 177310717 A G snp 1490.77 1/1 99 86 0 86 1.0 ncRNA_exonic rs10455082 LOC728554 AU 0.997005 1 0.9976 0.9997 Uncertain 5_177344152_G->T 5 177344152 177344152 G T snp 1682.77 1/1 99 94 0 94 1.0 intergenic rs4299748 LOC728554 AU Uncertain 5_177347910_G->C 5 177347910 177347910 G C snp 139.9 1/1 15 43 20 23 0.53 intergenic rs200509090 LOC728554 AU Uncertain 5_177347960_A->T 5 177347960 177347960 A T snp 143.77 0/1 99 92 58 34 0.37 intergenic rs563916879 LOC728554 AU 0.337061 0.5427 Uncertain 5_177348037_-->TTTG 5 177348037 177348037 - TTTG indel 3635.73 1/1 99 61 0 61 1.0 intergenic rs200716870 LOC728554 AU Uncertain 5_177348098_G->A 5 177348098 177348098 G A snp 1685.77 1/1 99 105 11 94 0.9 intergenic rs4958970 LOC728554 AU 0.996605 1 Uncertain 5_177348106_A->C 5 177348106 177348106 A C snp 1588.77 1/1 99 93 11 82 0.88 intergenic rs4958971 LOC728554 AU 0.996605 1 Uncertain 5_177348150_C->T 5 177348150 177348150 C T snp 1128.77 1/1 90 33 0 33 1.0 intergenic rs4958972 LOC728554 AU Uncertain 5_177348155_A->G 5 177348155 177348155 A G snp 1067.77 1/1 87 32 0 32 1.0 intergenic rs4958973 LOC728554 AU 0.996605 1 Uncertain 5_177348185_T->C 5 177348185 177348185 T C snp 384.77 1/1 36 12 0 12 1.0 intergenic rs4958974 LOC728554 AU Uncertain 5_177422876_T->C 5 177422876 177422876 T C snp 2464.77 1/1 99 87 0 87 1.0 exonic rs7445271 PROP1 AR nonsynonymous SNV NM_006261 exon1 c.A59G p.N20S 0.999401 1 0.999692 0.9999 1 0.84 T 0.0 P -0.978 T 0.0 T 0.0 T Pathogenic 5_177422908_A->G 5 177422908 177422908 A G snp 3612.77 1/1 99 126 0 126 1.0 exonic rs1135320 PROP1 AR synonymous SNV NM_006261 exon1 c.T27C p.A9A 0.447684 0.5595 0.393049 0.4758 0.5785 Uncertain 5_177423144_T->G 5 177423144 177423144 T G snp 120.77 0/1 67 7 3 4 0.57 UTR5 rs13187293 PROP1 AR 0.330272 0.4355 Uncertain 5_177473955_C->G 5 177473955 177473955 C G snp 2677.77 0/1 99 250 116 134 0.54 ncRNA_intronic rs367643213 FAM153C AU 0.00439297 0.001 0.001310 0.0023 0.0012 Uncertain 5_177482694_T->C 5 177482694 177482694 T C snp 479.77 0/1 99 58 38 20 0.34 intergenic rs11953084 FAM153C AU 0.477835 0.5665 0.458113 0.4989 0.5762 Uncertain 5_177483118_T->C 5 177483118 177483118 T C snp 603.77 0/1 99 51 23 28 0.55 intergenic rs11953798 FAM153C AU 0.505391 0.5308 0.446800 0.4826 0.5217 Uncertain 5_177483154_T->A 5 177483154 177483154 T A snp 376.77 0/1 99 32 15 17 0.53 intergenic rs9687038 FAM153C AU 0.664137 0.5972 0.636111 0.6165 0.5855 Uncertain 5_177483184_A->G 5 177483184 177483184 A G snp 184.77 0/1 99 16 8 8 0.5 intergenic rs11953029 FAM153C AU 0.467252 0.5308 0.406918 0.4669 0.5209 Uncertain 5_177547247_T->C 5 177547247 177547247 T C snp 2440.77 1/1 99 96 0 96 1.0 exonic rs7719667 N4BP3 AU synonymous SNV NM_015111 exon3 c.T399C p.S133S 0.999601 1 0.999000 0.9998 1 Uncertain 5_177548085_C->A 5 177548085 177548085 C A snp 1543.77 1/1 99 59 0 59 1.0 intronic rs7712666 N4BP3 AU NM_015111 exon4 c.1514-13C>A 0.367612 0.4177 0.287629 0.3151 0.3763 Uncertain 5_177562251_G->A 5 177562251 177562251 G A snp 527.77 1/1 39 19 0 19 1.0 exonic rs10060446 RMND5B AU nonsynonymous SNV NM_001288795 exon3 c.G38A p.S13N 0.759585 0.7381 0.6682 0.66 0.63 T 0.0 P -0.932 T 0.393 T 0.383 T Pathogenic 5_177570759_T->C 5 177570759 177570759 T C snp 3408.77 1/1 99 108 0 108 1.0 intronic rs6601218 RMND5B AU NM_001288794 exon7 c.5608+31T>C 1 1 0.999769 1.0000 1 Uncertain 5_177574421_C->T 5 177574421 177574421 C T snp 54.74 1/1 6 2 0 2 1.0 intronic rs6601221 RMND5B AU NM_001288794 exon10 c.9413-112C>T 0.630591 0.4375 0.629216 Uncertain 5_177574901_C->G 5 177574901 177574901 C G snp 7207.77 1/1 99 249 0 249 1.0 intronic rs7380934 RMND5B AU NM_001288794 exon11 c.9764+17C>G 0.70627 0.6508 0.704982 0.7385 0.6247 Uncertain 5_177612634_A->C 5 177612634 177612634 A C snp 96.28 1/1 9 3 0 3 1.0 ncRNA_exonic rs7715618 GMCL1P1 AU 0.8125 0.9782 Uncertain 5_177612734_T->C 5 177612734 177612734 T C snp 588.77 1/1 45 20 0 20 1.0 ncRNA_exonic rs7720480 GMCL1P1 AU 0.8125 0.9782 0.8578 0.9899 Uncertain 5_177612739_G->T 5 177612739 177612739 G T snp 289.77 0/1 99 23 13 10 0.43 ncRNA_exonic rs72648831 GMCL1P1 AU 0.256589 0.4117 0.2011 0.4036 Uncertain 5_177612744_A->G 5 177612744 177612744 A G snp 908.77 1/1 69 25 0 25 1.0 ncRNA_exonic rs7715796 GMCL1P1 AU 0.8125 0.9782 0.8561 0.9898 Uncertain 5_177612983_G->A 5 177612983 177612983 G A snp 3072.77 0/1 99 249 136 113 0.45 ncRNA_exonic rs13169133 GMCL1P1 AU 0.485024 0.4871 0.6242 0.5033 Uncertain 5_177613123_T->C 5 177613123 177613123 T C snp 7411.77 1/1 99 248 0 248 1.0 ncRNA_exonic rs10479619 GMCL1P1 AU 0.932109 1 0.9626 1 Uncertain 5_177613168_C->T 5 177613168 177613168 C T snp 3309.77 0/1 99 232 98 134 0.58 ncRNA_exonic rs13184406 GMCL1P1 AU 0.491813 0.4871 0.6247 0.5028 Uncertain 5_177614183_T->C 5 177614183 177614183 T C snp 870.77 0/1 99 115 74 41 0.36 ncRNA_exonic rs2913783 GMCL1P1 AU 0.607228 0.8085 0.5220 0.8228 Uncertain 5_177614387_A->G 5 177614387 177614387 A G snp 866.77 1/1 63 36 0 36 1.0 ncRNA_exonic rs6886332 GMCL1P1 AU 0.991414 1 Uncertain 5_177614401_C->G 5 177614401 177614401 C G snp 251.77 0/1 99 33 19 14 0.42 ncRNA_exonic rs11960863 GMCL1P1 AU 0.330072 0.4891 Uncertain 5_177631783_G->A 5 177631783 177631783 G A snp 70.28 1/1 9 4 0 4 1.0 intronic rs17080447 HNRNPAB AU 0.225439 0.2718 Uncertain 5_177633116_A->G 5 177633116 177633116 A G snp 624.77 1/1 48 17 0 17 1.0 intronic rs3812089 HNRNPAB AU NM_004499 exon3 c.1173+105A>G 0.803914 0.6438 Uncertain 5_177634401_T->C 5 177634401 177634401 T C snp 218.84 1/1 18 7 0 7 1.0 intronic rs7705458 HNRNPAB AU NM_004499 exon5 c.2388+175T>C 1 1 Uncertain 5_177636991_T->- 5 177636991 177636991 T - indel 1843.73 1/1 99 45 0 45 1.0 intronic rs111881090 HNRNPAB AU NM_031266 exon7 c.5294-141delT 0.596046 0.4554 Uncertain 5_177637447_G->A 5 177637447 177637447 G A snp 1288.77 1/1 93 45 0 45 1.0 intronic rs2913751 HNRNPAB AU NM_004499 exon7 c.5715-106G>A 0.586661 0.4623 Uncertain 5_177642085_A->G 5 177642085 177642085 A G snp 520.77 1/1 39 13 0 13 1.0 intronic rs72817294 PHYKPL AU NM_001278346 exon5 c.3355-191A>G 0.260184 0.3671 Uncertain 5_177642177_C->T 5 177642177 177642177 C T snp 2569.77 1/1 99 91 0 91 1.0 intronic rs2913748 PHYKPL AU NM_001278346 exon5 c.3355-99C>T 0.562101 0.4633 Uncertain 5_177642518_G->A 5 177642518 177642518 G A snp 288.78 1/1 24 8 0 8 1.0 intronic rs17639362 PHYKPL AU NM_001278346 exon5 c.3510+87G>A 0.254393 0.3601 Uncertain 5_177649986_G->A 5 177649986 177649986 G A snp 1830.77 0/1 99 114 41 73 0.64 intronic rs3749813 PHYKPL AU NM_001278346 exon7 c.11014+51G>A 0.160942 0.2728 0.148931 0.1914 0.2765 Uncertain 5_177652231_A->G 5 177652231 177652231 A G snp 114.77 0/1 99 8 4 4 0.5 intronic rs2913869 PHYKPL AU NM_001278346 exon10 c.13434-124A>G 0.249601 0.1825 Uncertain 5_177658883_C->A 5 177658883 177658883 C A snp 850.77 1/1 63 25 0 25 1.0 intronic rs2973729 PHYKPL AU NM_001278346 exon13 c.19748+214C>A 0.980232 0.9782 0.9901 0.9775 Uncertain 5_177658945_C->T 5 177658945 177658945 C T snp 54.74 1/1 6 2 0 2 1.0 intronic rs2973727 PHYKPL AU NM_001278346 exon13 c.19748+276C>T 0.922524 0.9375 Uncertain 5_177669413_T->G 5 177669413 177669413 T G snp 4856.77 1/1 99 171 0 171 1.0 intronic rs2241579 COL23A1 AU NM_173465 exon4 c.3697+18T>G 0.489816 0.621 0.438507 0.4283 0.6275 Uncertain 5_177679680_T->C 5 177679680 177679680 T C snp 942.77 1/1 69 32 0 32 1.0 intronic rs2973751 COL23A1 AU NM_173465 exon13 c.13900+82T>C 0.747005 0.7917 Uncertain 5_177679728_T->C 5 177679728 177679728 T C snp 284.78 1/1 24 8 0 8 1.0 intronic rs12652833 COL23A1 AU NM_173465 exon13 c.13900+130T>C 0.239217 0.3671 Uncertain 5_177697176_T->A 5 177697176 177697176 T A snp 169.9 1/1 15 5 0 5 1.0 intronic rs11746396 COL23A1 AU NM_173465 exon24 c.31639-161T>A 0.379792 0.5446 Uncertain 5_177715452_C->T 5 177715452 177715452 C T snp 2254.77 1/1 99 84 0 84 1.0 intronic rs6892747 COL23A1 AU NM_173465 exon26 c.49847-93C>T 0.263578 0.4395 0.161848 Uncertain 5_177715465_A->G 5 177715465 177715465 A G snp 2183.77 1/1 99 84 1 83 0.99 intronic rs6860225 COL23A1 AU NM_173465 exon26 c.49847-80A>G 0.237021 0.4385 0.141261 Uncertain 5_177715581_T->C 5 177715581 177715581 T C snp 1105.77 1/1 81 40 0 40 1.0 intronic rs2913832 COL23A1 AU NM_173465 exon26 c.49853+30T>C 0.748602 0.6855 0.831800 0.8373 0.6886 Uncertain 5_177715797_-->G 5 177715797 177715797 - G indel 130.87 1/1 15 10 0 10 1.0 intronic rs11399497 COL23A1 AU NM_173465 exon26 c.49853+246insG 0.241014 0.4385 Uncertain 5_177717099_T->A 5 177717099 177717099 T A snp 433.77 1/1 33 11 0 11 1.0 intronic rs2973773 COL23A1 AU NM_173465 exon26 c.49853+1548T>A 0.6875 0.6825 Uncertain 5_177989153_G->A 5 177989153 177989153 G A snp 193.77 0/1 99 15 7 8 0.53 intronic rs76592681 COL23A1 AU NM_173465 exon28 c.322051+1404G>A 0.0183706 0.0863 0.0030 0.1324 Uncertain 5_178035585_G->A 5 178035585 178035585 G A snp 200.77 0/1 99 22 14 8 0.36 intronic rs501721 CLK4 AU NM_020666 exon4 c.4842+126G>A 0.275559 0.2976 Uncertain 5_178040919_G->A 5 178040919 178040919 G A snp 1030.77 1/1 75 29 0 29 1.0 intronic rs560842 CLK4 AU NM_020666 exon8 c.10227+75G>A 0.942093 0.999 Uncertain 5_178047537_GACAGGGTA->- 5 178047537 178047545 GACAGGGTA - indel 3000.73 0/1 99 92 62 30 0.33 intronic rs70997617 CLK4 AU NM_020666 exon11 c.15162+1758_15162+1766delGACAGGGTA 0.283347 0.2956 0.3187 0.3049 Uncertain 5_178359687_G->T 5 178359687 178359687 G T snp 580.77 0/1 99 65 40 25 0.38 exonic rs115597245 ZFP2 AU nonsynonymous SNV NM_030613 exon5 c.G1373T p.R458I 0.00279553 0.0119 0.000077 0.0013 0.0153 0.02 T 1.000 D -1.103 T 0.321 T 0.042 T Pathogenic 5_178373319_G->C 5 178373319 178373319 G C snp 2899.77 1/1 99 102 0 102 1.0 intronic rs56954828 ZNF454 AU NM_182594 exon3 c.3567-40G>C 0.116414 0.123 0.101876 0.0723 0.1116 Uncertain 5_178391902_A->C 5 178391902 178391902 A C snp 3093.77 1/1 99 119 2 117 0.98 exonic rs12719860 ZNF454 AU nonsynonymous SNV NM_001178089 exon5 c.A497C p.D166A 0.660144 0.6597 0.667922 0.6721 0.6581 0.54 T 0.0 P -0.970 T 0.0 T 0.0 T Pathogenic 5_178395850_G->C 5 178395850 178395850 G C snp 3031.77 1/1 99 113 0 113 1.0 intergenic rs11741688 ZNF454 AU 0.627796 0.7054 0.5945 0.6465 0 D 1.0 P -0.995 T Uncertain 5_178396742_G->C 5 178396742 178396742 G C snp 1314.77 1/1 96 39 0 39 1.0 intergenic rs4700759 ZNF454 AU 0.946286 1 Uncertain 5_178401552_C->T 5 178401552 178401552 C T snp 1936.77 1/1 99 60 0 60 1.0 intergenic rs4700991 ZNF454 AU 0.76857 0.8899 Uncertain 5_178402407_C->T 5 178402407 178402407 C T snp 48.74 1/1 6 2 0 2 1.0 intergenic rs7735200 ZNF454 AU 0.830871 0.9554 Uncertain 5_178407292_C->T 5 178407292 178407292 C T snp 5841.77 1/1 99 203 0 203 1.0 UTR3 rs2856351 GRM6 AR 0.988219 1 Uncertain 5_178408584_C->G 5 178408584 178408584 C G snp 258.77 0/1 99 15 6 9 0.6 UTR3 rs143392284 GRM6 AR 0.00479233 0.0238 Uncertain 5_178409856_C->T 5 178409856 178409856 C T snp 588.77 1/1 45 16 0 16 1.0 intronic rs2071248 GRM6 AR NM_000843 exon2 c.1253-54C>T 0.455871 0.6161 CLINSIG=untested;CLNDBN=not_provided;CLNREVSTAT=no_assertion_provided;CLNACC=RCV000086051.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Uncertain 5_178410538_A->C 5 178410538 178410538 A C snp 3814.77 1/1 99 139 1 138 0.99 intronic rs1475950 GRM6 AR NM_000843 exon2 c.1565+316A>C 0.115415 0.1171 0.0926 0.1193 Uncertain 5_178410668_G->A 5 178410668 178410668 G A snp 3838.77 1/1 99 133 0 133 1.0 intronic rs1475949 GRM6 AR NM_000843 exon2 c.1565+446G>A 0.105232 0.1171 Uncertain 5_178410738_C->T 5 178410738 178410738 C T snp 4498.77 1/1 99 165 0 165 1.0 intronic rs903988 GRM6 AR NM_000843 exon2 c.1565+516C>T 0.987021 1 Uncertain 5_178411315_C->T 5 178411315 178411315 C T snp 2008.77 1/1 99 77 0 77 1.0 intronic rs2645341 GRM6 AR NM_000843 exon2 c.1565+1093C>T 0.907348 0.8571 Uncertain 5_178412017_T->C 5 178412017 178412017 T C snp 126.77 1/1 9 4 0 4 1.0 intronic rs60948868 GRM6 AR NM_000843 exon3 c.4473-1113T>C 0.00299521 0.0129 Uncertain 5_178412716_C->A 5 178412716 178412716 C A snp 392.77 0/1 99 25 10 15 0.6 intronic rs11950921 GRM6 AR NM_000843 exon3 c.4473-414C>A 0.549521 0.3958 0.4598 0.3654 Uncertain 5_178413816_T->C 5 178413816 178413816 T C snp 6862.77 1/1 99 250 0 250 1.0 intronic rs2256966 GRM6 AR NM_000843 exon4 c.5181-22T>C 0.544529 0.5913 0.576899 0.6064 0.5893 0.06 T 0.0 P -0.968 T CLINSIG=untested;CLNDBN=not_provided;CLNREVSTAT=no_assertion_provided;CLNACC=RCV000086027.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Uncertain 5_178413947_T->C 5 178413947 178413947 T C snp 6271.77 1/1 99 226 1 225 1.0 exonic rs11746675 GRM6 AR synonymous SNV NM_000843 exon7 c.A1392G p.G464G 0.535543 0.5863 0.568430 0.5997 0.5848 CLINSIG=untested;CLNDBN=not_provided;CLNREVSTAT=no_assertion_provided;CLNACC=RCV000086026.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Uncertain 5_178414565_C->T 5 178414565 178414565 C T snp 1770.77 1/1 99 62 0 62 1.0 intronic rs2645340 GRM6 AR NM_000843 exon4 c.5327+581C>T 0.726438 0.7073 Uncertain 5_178415937_A->G 5 178415937 178415937 A G snp 1159.77 1/1 87 29 0 29 1.0 exonic rs2067011 GRM6 AR synonymous SNV NM_000843 exon6 c.T1353C p.N451N 0.506989 0.5913 0.494464 0.5328 0.5854 0 D 1.0 P -0.922 T CLINSIG=untested;CLNDBN=not_provided;CLNREVSTAT=no_assertion_provided;CLNACC=RCV000086024.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Likely benign 5_178415982_A->G 5 178415982 178415982 A G snp 2600.77 1/1 99 83 0 83 1.0 exonic rs4701014 GRM6 AR synonymous SNV NM_000843 exon6 c.T1308C p.T436T 0.986022 1 0.982162 0.9952 1 Uncertain 5_178416063_G->A 5 178416063 178416063 G A snp 4857.77 1/1 99 192 1 191 0.99 exonic rs2645339 GRM6 AR synonymous SNV NM_000843 exon6 c.C1227T p.Y409Y 0.488236 0.5256 0.5805 CLINSIG=probable-non-pathogenic;CLNDBN=not_provided;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000086023.2;CLNDSDB=MedGen;CLNDSDBID=CN221809 Uncertain 5_178416204_CCCTCCCCA->- 5 178416204 178416212 CCCTCCCCA - indel 3133.73 1/1 78 50 2 48 0.96 intronic rs143495088 GRM6 AR NM_000843 exon6 c.7608-61_7608-53delCCCTCCCCA 0.505192 0.5843 0.6349 0.7054 Uncertain 5_178416288_G->A 5 178416288 178416288 G A snp 1373.77 1/1 99 45 0 45 1.0 exonic rs2071246 GRM6 AR synonymous SNV NM_000843 exon5 c.C1131T p.D377D 0.721645 0.6974 0.737660 0.7241 0.6989 CLINSIG=untested;CLNDBN=not_provided;CLNREVSTAT=no_assertion_provided;CLNACC=RCV000086022.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Uncertain 5_178419279_-->GGCAAGGTCT 5 178419279 178419279 - GGCAAGGTCT indel 8466.73 1/1 99 67 0 67 1.0 intronic rs11283410 GRM6 AR NM_000843 exon9 c.10427+195insGGCAAGGTCT 0.916134 0.9792 0.9696 0.9767 Uncertain 5_178419288_C->T 5 178419288 178419288 C T snp 2765.77 1/1 99 91 1 90 0.99 intronic rs2645335 GRM6 AR NM_000843 exon9 c.10427+204C>T 0.916334 0.9792 0.9702 0.9690 0.38 T 0.0 P -1.025 T Uncertain 5_178419396_-->C 5 178419396 178419396 - C indel 6104.73 1/1 99 179 0 179 1.0 intronic rs11449973 GRM6 AR NM_000843 exon9 c.10427+312insC 0.997804 1 0.9990 1 Uncertain 5_178421351_T->C 5 178421351 178421351 T C snp 143.03 1/1 12 5 0 5 1.0 intronic rs2645330 GRM6 AR NM_000843 exon10 c.12784-90T>C 0.534744 0.5843 Uncertain 5_178421770_T->G 5 178421770 178421770 T G snp 785.77 1/1 57 27 0 27 1.0 exonic rs2645329 GRM6 AR nonsynonymous SNV NM_000843 exon1 c.A176C p.Q59P 0.551917 0.5873 0.635887 0.4891 0.5878 0.63 T 0.000 P -0.913 T 0.0 T 0.0 T CLINSIG=non-pathogenic|untested;CLNDBN=not_specified|not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter|no_assertion_provided;CLNACC=RCV000079324.3|RCV000086034.1;CLNDSDB=MedGen|MedGen;CLNDSDBID=CN169374|CN221809 Pathogenic 5_178451932_C->T 5 178451932 178451932 C T snp 327.77 0/1 99 29 16 13 0.45 intronic rs34881171 ZNF879 AU 0.351438 0.4276 0.276829 Uncertain 5_178454887_T->C 5 178454887 178454887 T C snp 56.74 1/1 6 2 0 2 1.0 intronic rs3932173 ZNF879 AU NM_001136116 exon4 c.3027-145T>C 0.708466 0.8522 Uncertain 5_178455247_T->C 5 178455247 178455247 T C snp 164.77 0/1 57 9 2 7 0.78 intronic rs2047354 ZNF879 AU NM_001136116 exon4 c.3123+119T>C 0.364217 0.4276 Uncertain 5_178459169_G->C 5 178459169 178459169 G C snp 115.77 0/1 99 12 7 5 0.42 intronic rs10516150 ZNF879 AU NM_001136116 exon5 c.7200-36G>C 0.364217 0.4276 0.3145 0.4408 Uncertain 5_178459283_A->G 5 178459283 178459283 A G snp 791.77 0/1 99 66 36 30 0.45 exonic rs17078988 ZNF879 AU nonsynonymous SNV NM_001136116 exon5 c.A334G p.T112A 0.364217 0.4276 0.289969 0.2733 0.4369 0.85 T 0.0 P -0.947 T 0.0 T 0.0 T Pathogenic 5_178459426_A->C 5 178459426 178459426 A C snp 1799.77 0/1 99 156 78 78 0.5 exonic rs17078991 ZNF879 AU nonsynonymous SNV NM_001136116 exon5 c.A477C p.E159D 0.364217 0.4276 0.289969 0.2722 0.4375 0.14 T 0.285 P -0.947 T 0.0 T 0.001 T Pathogenic 5_178503338_A->C 5 178503338 178503338 A C snp 1052.77 0/1 99 66 22 44 0.67 intronic rs4701030 ZNF354C AU NM_014594 exon3 c.14376-107A>C 0.346845 0.4276 Uncertain 5_178504338_G->A 5 178504338 178504338 G A snp 132.77 0/1 99 12 7 5 0.42 intronic rs6601010 ZNF354C AU NM_014594 exon4 c.15098+171G>A 0.440895 0.4464 Uncertain 5_178507069_T->C 5 178507069 178507069 T C snp 3609.77 1/1 99 135 0 135 1.0 exonic rs1445846 ZNF354C AU nonsynonymous SNV NM_014594 exon5 c.T1636C p.F546L 0.775958 0.8879 0.688501 0.7212 0.8764 0.01 T 0.0 P -1.085 T 0.0 T 0.0 T Pathogenic 5_178507090_G->A 5 178507090 178507090 G A snp 3075.77 1/1 99 103 0 103 1.0 exonic rs1445845 ZNF354C AU nonsynonymous SNV NM_014594 exon5 c.G1657A p.E553K 0.775958 0.8879 0.691233 0.7194 0.8760 0.79 T 0.0 P -1.022 T 0.001 T 0.002 T Pathogenic 5_178540975_G->A 5 178540975 178540975 G A snp 1994.77 0/1 99 175 87 88 0.5 exonic rs1054480 ADAMTS2 AR nonsynonymous SNV NM_014244 exon22 c.C3529T p.P1177S 0.263778 0.3105 0.221744 0.2998 0.3200 0.57 T 1.0 P -0.969 T 0.651 T 0.084 P Pathogenic 5_178548514_G->C 5 178548514 178548514 G C snp 311.77 0/1 99 27 17 10 0.37 intronic rs2303640 ADAMTS2 AR NM_014244 exon2 c.7794-147G>C 0.261182 0.3571 Uncertain 5_178549791_G->A 5 178549791 178549791 G A snp 1251.77 0/1 99 115 57 58 0.5 intronic rs2303641 ADAMTS2 AR NM_014244 exon3 c.8907+17G>A 0.252396 0.3274 0.187323 0.2970 0.3960 Uncertain 5_178553185_G->A 5 178553185 178553185 G A snp 1191.77 0/1 99 89 39 50 0.56 intronic rs2303643 ADAMTS2 AR NM_014244 exon5 c.12264+54G>A 0.507388 0.5377 Uncertain 5_178554964_G->A 5 178554964 178554964 G A snp 1666.77 0/1 99 111 40 71 0.64 exonic rs145016043 ADAMTS2 AR synonymous SNV NM_014244 exon17 c.C2613T p.G871G 0.000599042 0.000308 0.0001 0.0002 ID=COSM1311037;OCCURENCE=1(urinary_tract) Uncertain 5_178557142_A->G 5 178557142 178557142 A G snp 1189.77 0/1 99 104 54 50 0.48 intronic rs2251105 ADAMTS2 AR NM_014244 exon7 c.16232+43A>G 0.46266 0.4256 0.462237 0.4951 0.4385 Uncertain 5_178567054_A->G 5 178567054 178567054 A G snp 1942.77 0/1 99 174 88 86 0.49 intronic rs2303638 ADAMTS2 AR NM_014244 exon12 c.26169+18A>G 0.237021 0.3294 0.192296 0.2617 0.3393 Uncertain 5_178580926_C->T 5 178580926 178580926 C T snp 231.77 0/1 99 12 5 7 0.58 intronic rs561484853 ADAMTS2 AR NM_014244 exon15 c.40182-123C>T 0.00119808 0.006 Uncertain 5_178581797_C->T 5 178581797 178581797 C T snp 782.77 0/1 99 73 40 33 0.45 intronic rs2278222 ADAMTS2 AR NM_014244 exon16 c.40947-17C>T 0.23123 0.3244 0.180665 0.3113 0.4041 Uncertain 5_178581859_G->A 5 178581859 178581859 G A snp 996.77 0/1 99 114 67 47 0.41 exonic rs2278221 ADAMTS2 AR synonymous SNV NM_014244 exon7 c.C1194T p.D398D 0.228435 0.3185 0.186914 0.2670 0.3384 Uncertain 5_178608404_T->A 5 178608404 178608404 T A snp 48.74 1/1 6 2 0 2 1.0 intronic rs1110514 ADAMTS2 AR NM_014244 exon18 c.67289+248T>A 0.76857 0.8492 Uncertain 5_178634619_C->T 5 178634619 178634619 C T snp 6286.77 1/1 99 239 0 239 1.0 exonic rs423552 ADAMTS2 AR synonymous SNV NM_014244 exon4 c.G786A p.A262A 0.924521 0.994 0.915270 0.9296 0.9985 Uncertain 5_178634672_C->T 5 178634672 178634672 C T snp 1727.77 0/1 99 164 89 75 0.46 exonic rs398829 ADAMTS2 AR nonsynonymous SNV NM_014244 exon4 c.G733A p.V245I 0.431909 0.6349 0.325158 0.3554 0.6641 0.48 T 0.0 P -0.916 T 0.003 T 0.003 T Pathogenic 5_178768401_G->T 5 178768401 178768401 G T snp 65.77 0/1 94 14 8 6 0.43 intronic rs76429249 ADAMTS2 AR NM_014244 exon21 c.229900-2366G>T 0.176717 0.3095 Uncertain 5_178768439_T->C 5 178768439 178768439 T C snp 39.77 0/1 66 4 2 2 0.5 intronic rs55714836 ADAMTS2 AR NM_014244 exon21 c.229900-2328T>C 0.255391 0.1994 Uncertain 5_178770718_A->G 5 178770718 178770718 A G snp 648.77 0/1 99 66 36 30 0.45 intronic rs2271214 ADAMTS2 AR NM_014244 exon21 c.229900-49A>G 0.195487 0.3115 0.095934 0.1602 0.2884 Uncertain 5_178770759_C->G 5 178770759 178770759 C G snp 2612.77 1/1 99 95 0 95 1.0 intronic rs2271213 ADAMTS2 AR NM_014244 exon21 c.229900-8C>G 0.395367 0.5129 0.284921 0.4150 0.4939 Uncertain 5_178770981_A->G 5 178770981 178770981 A G snp 7484.77 1/1 99 250 0 250 1.0 exonic rs2271212 ADAMTS2 AR synonymous SNV NM_014244 exon2 c.T321C p.S107S 0.308948 0.4092 0.4922 Uncertain 5_178772259_-->GCA 5 178772259 178772259 - GCA indel 221.73 0/1 99 18 10 8 0.44 exonic rs568040559 ADAMTS2 AR nonframeshift insertion NM_014244 exon1 c.70_71insTGC p.P24delinsLP 0.180511 0.2718 0.4070 0.5 Uncertain 5_178986987_C->T 5 178986987 178986987 C T snp 1172.77 1/1 84 42 0 42 1.0 UTR5 rs12658664 RUFY1 AU 0.496406 0.7421 0.379286 0.4518 0.7501 Uncertain 5_178989386_A->G 5 178989386 178989386 A G snp 43.77 0/1 72 6 3 3 0.5 intronic rs28611242 RUFY1 AU NM_025158 exon3 c.11977-161A>G 0.48143 0.7312 Uncertain 5_178989473_T->G 5 178989473 178989473 T G snp 608.77 0/1 99 46 21 25 0.54 intronic rs28510162 RUFY1 AU NM_025158 exon3 c.11977-74T>G 0.48143 0.7312 Uncertain 5_178996435_A->G 5 178996435 178996435 A G snp 1894.77 0/1 99 186 97 89 0.48 intronic rs11743261 RUFY1 AU NM_025158 exon5 c.18856+9A>G 0.488618 0.7312 0.389820 0.4461 0.7280 Uncertain 5_179012968_A->G 5 179012968 179012968 A G snp 1300.77 0/1 99 132 74 58 0.44 intronic rs13361148 RUFY1 AU NM_025158 exon8 c.35296+102A>G 0.45607 0.7321 Uncertain 5_179016664_A->T 5 179016664 179016664 A T snp 1591.77 0/1 99 166 95 71 0.43 intronic rs6895677 RUFY1 AU NM_025158 exon9 c.39078+16A>T 0.329473 0.6448 0.193372 0.2947 0.6403 Uncertain 5_179016882_C->T 5 179016882 179016882 C T snp 117.77 0/1 97 7 3 4 0.57 intronic rs7715391 RUFY1 AU NM_025158 exon9 c.39078+234C>T 0.248003 0.1776 Uncertain 5_179021982_G->A 5 179021982 179021982 G A snp 4852.77 1/1 99 185 0 185 1.0 intronic rs28685239 RUFY1 AU NM_025158 exon12 c.44394+18G>A 0.709265 0.8611 0.657466 0.7149 0.8509 Uncertain 5_179022113_G->A 5 179022113 179022113 G A snp 383.77 1/1 30 10 0 10 1.0 intronic rs28410430 RUFY1 AU NM_025158 exon12 c.44394+149G>A 0.705471 0.8611 Uncertain 5_179025550_A->G 5 179025550 179025550 A G snp 1038.77 1/1 78 33 0 33 1.0 ncRNA_intronic rs4701136 LOC101928445 AU 0.772165 0.9077 Uncertain 5_179032755_C->T 5 179032755 179032755 C T snp 681.77 1/1 51 20 0 20 1.0 intronic rs6877888 RUFY1 AU NM_025158 exon16 c.55306-121C>T 0.991613 1 Uncertain 5_179033094_G->A 5 179033094 179033094 G A snp 136.03 1/1 12 4 0 4 1.0 intronic rs4701139 RUFY1 AU NM_025158 exon16 c.55355+169G>A 0.7498 0.9097 Uncertain 5_179036257_C->T 5 179036257 179036257 C T snp 62.77 0/1 91 12 9 3 0.25 intronic rs58788190 RUFY1 AU NM_025158 exon18 c.58806-119C>T 0.308107 0.1716 Uncertain 5_179036268_A->C 5 179036268 179036268 A C snp 72.77 0/1 99 19 15 4 0.21 intronic rs60104959 RUFY1 AU NM_025158 exon18 c.58806-108A>C 0.284944 0.1726 Uncertain 5_179036357_G->A 5 179036357 179036357 G A snp 915.77 0/1 99 74 29 45 0.61 intronic rs7448707 RUFY1 AU NM_025158 exon18 c.58806-19G>A 0.215208 0.3026 0.6460 Uncertain 5_179036433_G->A 5 179036433 179036433 G A snp 948.77 0/1 99 97 58 39 0.4 exonic rs17355294 RUFY1 AU synonymous SNV NM_001040451 exon17 c.G1716A p.L572L 0.271765 0.1706 0.401276 0.3470 0.1755 Uncertain 5_179036608_T->A 5 179036608 179036608 T A snp 256.77 0/1 99 21 12 9 0.43 UTR3 rs8087 RUFY1 AU 0.479433 0.3006 Uncertain 5_179042400_C->T 5 179042400 179042400 C T snp 205.77 0/1 99 15 5 10 0.67 intronic rs61408162 HNRNPH1 AU 0.164537 0.1716 Uncertain 5_179042971_A->G 5 179042971 179042971 A G snp 176.77 0/1 99 11 5 6 0.55 intronic rs4376229 HNRNPH1 AU NM_005520 exon3 c.580-155A>G 0.415136 0.6925 Uncertain 5_179043041_C->G 5 179043041 179043041 C G snp 1213.77 0/1 99 109 60 49 0.45 intronic rs4256313 HNRNPH1 AU NM_005520 exon3 c.580-85C>G 0.339058 0.6518 Uncertain 5_179043075_T->C 5 179043075 179043075 T C snp 4973.77 1/1 99 176 0 176 1.0 intronic rs4515257 HNRNPH1 AU NM_005520 exon3 c.580-51T>C 0.995807 1 0.997184 Uncertain 5_179043982_-->AA 5 179043982 179043982 - AA indel 4814.73 0/1 99 250 133 117 0.47 intronic rs34734159 HNRNPH1 AU NM_005520 exon4 c.1413+23insAA 0.344249 0.2123 0.478834 0.4312 0.2200 Uncertain 5_179045142_G->A 5 179045142 179045142 G A snp 2764.77 0/1 99 207 96 111 0.54 splicing rs4701143 HNRNPH1 AU NM_005520 exon9 c.2599-3G>A 0.339257 0.6508 0.199677 0.2965 0.6469 Pathogenic 5_179045374_G->C 5 179045374 179045374 G C snp 254.77 0/1 99 20 11 9 0.45 intronic rs771168261 HNRNPH1 AU NM_005520 exon9 c.2778+50G>C 8.95e-06 0.0001 Uncertain 5_179048449_T->G 5 179048449 179048449 T G snp 40.77 0/1 33 4 2 2 0.5 intronic rs4535419 HNRNPH1 AU NM_005520 exon12 c.5852+51T>G 0.28135 0.1706 0.408664 0.3535 0.1757 Uncertain 5_179049138_C->A 5 179049138 179049138 C A snp 309.78 1/1 24 8 0 8 1.0 intronic rs4301193 HNRNPH1 AU NM_005520 exon12 c.5852+740C>A 0.990016 1 Uncertain 5_179050188_A->C 5 179050188 179050188 A C snp 3045.77 0/1 99 235 104 131 0.56 intronic rs1136267 HNRNPH1 AU NM_005520 exon13 c.7619+23A>C 0.502196 0.7321 0.339028 Uncertain 5_179069309_G->C 5 179069309 179069309 G C snp 4302.77 1/1 99 148 1 147 0.99 intronic rs6887611 C5orf60 AU 0.958267 1 0.940648 0.9850 1 Uncertain 5_179069468_A->G 5 179069468 179069468 A G snp 2939.77 0/1 99 250 128 122 0.49 exonic rs62405726 C5orf60 AU nonsynonymous SNV NM_001142306 exon5 c.T706C p.W236R 0.459665 0.6806 0.3675 0.6902 0.84 T 0.0 P -1.012 T 0.982 D 0.891 D Pathogenic 5_179069551_G->A 5 179069551 179069551 G A snp 2539.77 0/1 99 222 111 111 0.5 intronic rs12519906 C5orf60 AU NM_001305388 exon2 c.163+49G>A 0.2498 0.1806 0.3112 0.1661 Uncertain 5_179070129_G->A 5 179070129 179070129 G A snp 487.77 0/1 99 41 22 19 0.46 exonic rs139773355 C5orf60 AU nonsynonymous SNV NM_001142306 exon4 c.C424T p.P142S 0.0123802 0.0585 0.0036 0.0671 0.12 T 1 N -1.053 T 0.001 T 0.001 T Pathogenic 5_179071866_A->G 5 179071866 179071866 A G snp 2595.77 0/1 99 250 139 111 0.44 exonic rs4990390 C5orf60 AU synonymous SNV NM_001142306 exon1 c.T156C p.I52I 0.425319 0.6766 0.249233 0.3531 0.6917 Uncertain 5_179078378_C->T 5 179078378 179078378 C T snp 1189.77 0/1 99 90 45 45 0.5 intergenic rs55837909 C5orf60 AU 0.254593 0.1736 0.2943 0.1565 Uncertain 5_179078940_T->C 5 179078940 179078940 T C snp 6609.77 1/1 99 249 0 249 1.0 intergenic rs6882398 C5orf60 AU 0.952476 1 0.9871 1 Uncertain 5_179079104_G->A 5 179079104 179079104 G A snp 741.77 0/1 99 56 31 25 0.45 intergenic rs113370076 C5orf60 AU 0.161941 0.1726 0.2142 0.1703 -0.948 T 0.0 T 0.0 T Uncertain 5_179126090_C->T 5 179126090 179126090 C T snp 1220.77 1/1 87 53 0 53 1.0 UTR5 rs1134924 CANX AU 0.479034 0.6339 0.5758 0.8333 0.07 T 0.000 P -0.926 T Uncertain 5_179136138_A->G 5 179136138 179136138 A G snp 2326.77 1/1 99 84 0 84 1.0 intronic rs6601068 CANX AU NM_001746 exon6 c.3378+78A>G 0.946286 1 Uncertain 5_179147641_C->T 5 179147641 179147641 C T snp 3201.82 1/1 99 110 0 110 1.0 intronic rs59666900 CANX AU NM_001746 exon10 c.14879+80C>T 0.380391 0.4524 Uncertain 5_179251475_T->G 5 179251475 179251475 T G snp 381.77 1/1 30 10 0 10 1.0 intronic rs55993594 SQSTM1 AU,AD NM_001142298 exon5 c.1319+152T>G 0.570088 0.7927 Uncertain 5_179260009_G->A 5 179260009 179260009 G A snp 622.77 0/1 99 54 27 27 0.5 intronic rs2241349 SQSTM1 AU,AD NM_001142298 exon7 c.10027-22G>A 0.401358 0.6062 0.300938 0.3957 0.6550 Uncertain 5_179260153_C->T 5 179260153 179260153 C T snp 2853.77 1/1 99 118 0 118 1.0 exonic rs4935 SQSTM1 AU,AD synonymous SNV NM_003900 exon6 c.C876T p.D292D 0.69369 0.8442 0.597186 0.6248 0.8512 Uncertain 5_179260213_G->A 5 179260213 179260213 G A snp 1301.77 1/1 93 46 0 46 1.0 exonic rs4797 SQSTM1 AU,AD synonymous SNV NM_003900 exon6 c.G936A p.R312R 0.58726 0.7937 0.498462 0.6115 0.8214 Uncertain 5_179260494_G->A 5 179260494 179260494 G A snp 1744.77 1/1 99 50 0 50 1.0 intronic rs155787 SQSTM1 AU,AD NM_001142298 exon8 c.10582-92G>A 0.644369 0.7887 Uncertain 5_179264731_T->C 5 179264731 179264731 T C snp 4584.77 1/1 99 174 0 174 1.0 exonic rs10277 C5orf45 AU nonsynonymous SNV NM_001017987 exon5 c.A527G p.Q176R 0.687899 0.7629 0.619791 0.6262 0.7988 1 T 0.000 P -0.977 T 0.0 T 0.0 T Pathogenic 5_179264915_G->T 5 179264915 179264915 G T snp 946.77 1/1 69 29 0 29 1.0 UTR3 rs1065154 SQSTM1 AU,AD 0.722843 0.7619 0.650170 0.6329 0.7979 Uncertain 5_179267783_G->A 5 179267783 179267783 G A snp 2358.77 1/1 99 90 0 90 1.0 intronic rs248247 C5orf45 AU NM_016175 exon2 c.3481-88G>A 0.317891 0.4742 0.3588 0.4919 Uncertain 5_179267949_T->C 5 179267949 179267949 T C snp 1939.77 1/1 99 73 0 73 1.0 exonic rs248248 C5orf45 AU nonsynonymous SNV NM_001017987 exon4 c.A295G p.R99G 0.846845 0.8958 0.775104 0.7849 0.9203 0.26 T 0.0 P -1.048 T 0.254 T 0.05 T Pathogenic 5_179269075_G->T 5 179269075 179269075 G T snp 2807.77 1/1 99 101 0 101 1.0 intronic rs2303676 C5orf45 AU NM_016175 exon3 c.4674+11G>T 0.160343 0.2599 0.055052 0.1389 0.2724 Uncertain 5_179278466_A->G 5 179278466 179278466 A G snp 1259.77 1/1 90 45 0 45 1.0 intronic rs4700702 C5orf45 AU NM_016175 exon6 c.15987-1911A>G 0.48103 0.7619 0.5376 0.6970 Uncertain 5_179280379_T->C 5 179280379 179280379 T C snp 4238.77 1/1 99 162 0 162 1.0 exonic rs1650893 C5orf45 AU nonsynonymous SNV NM_001017987 exon2 c.A125G p.Q42R 0.654928 0.6367 0.8007 1 T 1.000 P -0.975 T 0.0 T 0.0 T Pathogenic 5_179285752_G->A 5 179285752 179285752 G A snp 1915.77 1/1 99 67 0 67 1.0 exonic rs10060182 C5orf45 AU synonymous SNV NM_001017987 exon1 c.C45T p.C15C 0.447284 0.7589 0.245167 0.4775 0.7723 0 D 0.005 P -1.058 T Likely benign 5_179287576_C->G 5 179287576 179287576 C G snp 4072.77 1/1 99 154 0 154 1.0 intergenic rs248254 C5orf45 AU 0.691494 0.748 0.5632 0.7430 0 D 0.0 P -1.057 T 0.0 T 0.0 T Uncertain 5_179287585_G->C 5 179287585 179287585 G C snp 4009.77 1/1 99 146 0 146 1.0 intergenic rs416974 C5orf45 AU 0.483427 0.7431 0.5120 0.7336 Uncertain 5_179287586_C->T 5 179287586 179287586 C T snp 3891.77 1/1 99 144 1 143 0.99 intergenic rs378684 C5orf45 AU 0.534744 0.7431 0.5215 0.7383 0 D 0.0 P -0.993 T 0.17 T 0.015 T Uncertain 5_179287622_-->TA 5 179287622 179287622 - TA indel 7105.73 1/1 99 143 0 143 1.0 intergenic rs1611076 C5orf45 AU 0.482628 0.746 0.5135 0.7264 Uncertain 5_179289659_G->A 5 179289659 179289659 G A snp 4722.77 1/1 99 180 0 180 1.0 UTR3 rs13936 TBC1D9B AU 0.199081 0.3819 Uncertain 5_179290845_T->G 5 179290845 179290845 T G snp 6021.77 1/1 99 218 0 218 1.0 exonic rs30386 TBC1D9B AU nonsynonymous SNV NM_015043 exon21 c.A3305C p.K1102T 0.576478 0.7748 0.459326 0.5467 0.7658 0.48 T 0.000 P -1.034 T 0.734 T 0.203 P Pathogenic 5_179291279_A->G 5 179291279 179291279 A G snp 943.77 1/1 69 26 0 26 1.0 intronic rs172056 TBC1D9B AU NM_015043 exon1 c.681+151A>G 0.545327 0.6716 Uncertain 5_179298342_G->C 5 179298342 179298342 G C snp 356.78 1/1 27 11 0 11 1.0 intronic rs248252 TBC1D9B AU NM_015043 exon7 c.8014-119G>C 0.694289 0.7768 Uncertain 5_179299867_T->C 5 179299867 179299867 T C snp 815.77 1/1 60 27 0 27 1.0 intronic rs532795 TBC1D9B AU NM_015043 exon8 c.9444-24T>C 0.682907 0.7768 0.548516 0.5408 0.7611 Uncertain 5_179305655_C->T 5 179305655 179305655 C T snp 430.77 1/1 33 15 0 15 1.0 intronic rs3734003 TBC1D9B AU NM_015043 exon12 c.15076+132C>T 0.515775 0.7738 Uncertain 5_179334857_A->G 5 179334857 179334857 A G snp 1594.77 1/1 99 54 0 54 1.0 upstream rs185073 TBC1D9B AU 0.958067 1 0.9178 1 Uncertain 5_179407229_C->T 5 179407229 179407229 C T snp 1828.77 0/1 99 142 69 73 0.51 intronic rs28011 RNF130 AU NM_001280801 exon5 c.24536+29C>T 0.711262 0.5198 0.801938 0.7175 0.5224 Uncertain 5_179442525_G->- 5 179442525 179442525 G - indel 203.8 1/1 18 7 0 7 1.0 intronic rs66797381 RNF130 AU NM_001280801 exon6 c.57647+2214delG 0.615216 0.5446 Uncertain 5_179498595_C->T 5 179498595 179498595 C T snp 5567.77 1/1 99 217 0 217 1.0 exonic rs3749821 RNF130 AU synonymous SNV NM_001280801 exon1 c.G108A p.T36T 0.597644 0.621 0.568700 0.6501 0.6501 Uncertain 5_179498658_G->T 5 179498658 179498658 G T snp 2941.77 1/1 99 105 0 105 1.0 exonic rs3828698 RNF130 AU synonymous SNV NM_001280801 exon1 c.C45A p.L15L 0.445487 0.63 0.340928 0.6009 0.7373 Uncertain 5_179528352_G->- 5 179528352 179528352 G - indel 784.73 1/1 78 26 0 26 1.0 UTR3 rs561317274 RASGEF1C AU Uncertain 5_179528359_G->C 5 179528359 179528359 G C snp 1260.77 1/1 93 33 0 33 1.0 UTR3 rs113499659 RASGEF1C AU 0.500399 0.5109 Uncertain 5_179528918_G->A 5 179528918 179528918 G A snp 88.28 1/1 9 3 0 3 1.0 intronic rs7724876 RASGEF1C AU NM_175062 exon2 c.570-152G>A 0.442492 0.5635 Uncertain 5_179529124_G->A 5 179529124 179529124 G A snp 2583.77 1/1 99 97 0 97 1.0 exonic rs7725201 RASGEF1C AU synonymous SNV NM_175062 exon13 c.C1323T p.Y441Y 0.826078 0.7966 0.784869 0.7945 0.7666 Uncertain 5_179542290_T->A 5 179542290 179542290 T A snp 723.77 0/1 99 74 39 35 0.47 intronic rs4700873 RASGEF1C AU NM_175062 exon4 c.13041+749T>A 0.2262 0.3462 Uncertain 5_179542474_CACTC->- 5 179542474 179542478 CACTC - indel 3300.73 0/1 99 107 52 55 0.51 intronic rs35177368 RASGEF1C AU NM_175062 exon4 c.13041+933_13041+937delCACTC 0.348442 0.4802 Uncertain 5_179546030_A->G 5 179546030 179546030 A G snp 54.74 1/1 6 2 0 2 1.0 intronic rs7732620 RASGEF1C AU NM_175062 exon6 c.17366+164A>G 0.588658 0.8522 Uncertain 5_179548294_C->T 5 179548294 179548294 C T snp 420.77 0/1 99 39 21 18 0.46 intronic rs55667285 RASGEF1C AU NM_175062 exon8 c.19649+145C>T 0.127396 0.0843 Uncertain 5_179554602_C->T 5 179554602 179554602 C T snp 677.77 0/1 99 62 30 32 0.52 intronic rs57288534 RASGEF1C AU NM_175062 exon9 c.26108-6C>T 0.120208 0.0645 0.132400 0.1675 0.0721 Uncertain 5_179555407_T->C 5 179555407 179555407 T C snp 293.77 0/1 99 29 15 14 0.48 splicing rs13354066 RASGEF1C AU NM_175062 exon10 c.26909-2T>C 0.383986 0.25 0.400892 0.3790 0.2896 Pathogenic 5_179555654_C->T 5 179555654 179555654 C T snp 1323.77 0/1 99 113 57 56 0.5 intronic rs6895192 RASGEF1C AU NM_175062 exon10 c.27110+44C>T 0.405152 0.248 0.450408 0.4432 0.3089 Uncertain 5_179563250_C->G 5 179563250 179563250 C G snp 262.8 1/1 21 7 0 7 1.0 intronic rs35802442 RASGEF1C AU NM_175062 exon11 c.34877-127C>G 0.191094 0.2411 Uncertain 5_179563368_A->G 5 179563368 179563368 A G snp 3106.77 1/1 99 116 0 116 1.0 intronic rs13165523 RASGEF1C AU NM_175062 exon11 c.34877-9A>G 0.184904 0.2411 0.119304 0.1714 0.3077 Uncertain 5_179563435_T->C 5 179563435 179563435 T C snp 5219.77 1/1 99 191 0 191 1.0 exonic rs11546322 RASGEF1C AU synonymous SNV NM_175062 exon4 c.A381G p.E127E 0.466254 0.7113 0.333230 0.5152 0.7674 Uncertain 5_179563633_T->G 5 179563633 179563633 T G snp 338.78 1/1 27 9 0 9 1.0 intronic rs1867454 RASGEF1C AU NM_175062 exon11 c.35015+118T>G 0.529153 0.7381 Uncertain 5_179565071_G->C 5 179565071 179565071 G C snp 1628.77 1/1 99 58 0 58 1.0 intronic rs4700878 RASGEF1C AU NM_175062 exon13 c.36558+13G>C 0.927516 1 0.927407 0.9778 0.9999 Uncertain 5_179565136_C->A 5 179565136 179565136 C A snp 685.77 1/1 54 23 0 23 1.0 intronic rs4700715 RASGEF1C AU NM_175062 exon13 c.36558+78C>A 0.927516 1 Uncertain 5_179665201_C->T 5 179665201 179665201 C T snp 216.84 1/1 18 13 0 13 1.0 intronic rs56333381 MAPK9 AU NM_139070 exon2 c.1948-130C>T 0.447484 0.756 Uncertain 5_179728707_T->C 5 179728707 179728707 T C snp 1115.77 0/1 99 123 71 52 0.42 intronic rs4700931 GFPT2 AU NM_005110 exon1 c.45+99T>C 0.444888 0.6458 Uncertain 5_179728860_A->C 5 179728860 179728860 A C snp 50.74 1/1 6 2 0 2 1.0 intronic rs4700932 GFPT2 AU NM_005110 exon1 c.45+252A>C 0.441294 0.6458 Uncertain 5_179729519_A->G 5 179729519 179729519 A G snp 3762.77 1/1 99 141 0 141 1.0 exonic rs1035411 GFPT2 AU synonymous SNV NM_005110 exon18 c.T1908C p.I636I 0.711262 0.9048 0.652095 0.6553 0.9157 Uncertain 5_179731695_C->T 5 179731695 179731695 C T snp 56.74 1/1 6 2 0 2 1.0 intronic rs729652 GFPT2 AU NM_005110 exon3 c.3208-76C>T 0.307109 0.3651 Uncertain 5_179734200_A->G 5 179734200 179734200 A G snp 720.77 0/1 99 51 24 27 0.53 exonic rs73343449 GFPT2 AU synonymous SNV NM_005110 exon16 c.T1650C p.Y550Y 0.201478 0.2173 0.225255 0.3242 0.3284 Uncertain 5_179734528_A->C 5 179734528 179734528 A C snp 99.28 1/1 9 3 0 3 1.0 intronic rs55848714 GFPT2 AU NM_005110 exon4 c.5740+225A>C 0.307708 0.3661 Uncertain 5_179744009_T->G 5 179744009 179744009 T G snp 2819.77 0/1 99 250 129 121 0.48 exonic rs2112594 GFPT2 AU synonymous SNV NM_005110 exon11 c.A1008C p.S336S 0.142372 0.1915 0.137894 0.1683 0.2080 Uncertain 5_179751390_A->G 5 179751390 179751390 A G snp 413.77 0/1 99 36 17 19 0.53 intronic rs1559113 GFPT2 AU NM_005110 exon11 c.22742+85A>G 0.160343 0.255 Uncertain 5_179763398_T->G 5 179763398 179763398 T G snp 712.77 0/1 99 52 26 26 0.5 intronic rs6891083 GFPT2 AU NM_005110 exon17 c.34915-80T>G 0.780351 0.6776 Uncertain 5_179765467_C->T 5 179765467 179765467 C T snp 245.77 0/1 99 25 15 10 0.4 intronic rs55946431 GFPT2 AU NM_005110 exon18 c.36929-25C>T 0.471845 0.5298 0.564675 0.5573 0.5269 Uncertain 5_179780296_C->T 5 179780296 179780296 C T snp 452.77 0/1 99 37 17 20 0.54 UTR5 rs202171607 GFPT2 AU 0.0403355 0.13 Uncertain 5_179780341_T->- 5 179780341 179780341 T - indel 995.73 1/1 69 23 0 23 1.0 upstream rs5873687 GFPT2 AU 1 1 Uncertain 5_179780382_-->G 5 179780382 179780382 - G indel 1115.73 ./1 99 16 0 16 1.0 upstream rs11452117 GFPT2 AU 1 1 Uncertain 5_179780383_GGGCGGGGAAG->- 5 179780383 179780393 GGGCGGGGAAG - indel 1115.73 ./1 99 16 0 16 1.0 upstream rs765129917 GFPT2 AU Uncertain 5_179980302_T->A 5 179980302 179980302 T A snp 814.77 0/1 99 57 29 28 0.49 intronic rs10516143 CNOT6 AU NM_001303241 exon6 c.24109-83T>A 0.341853 0.2133 Uncertain 5_179980527_A->G 5 179980527 179980527 A G snp 1816.77 0/1 99 140 68 72 0.51 intronic rs11738129 CNOT6 AU NM_001303241 exon6 c.24195+56A>G 0.366613 0.2143 0.494744 Uncertain 5_179996111_C->T 5 179996111 179996111 C T snp 2716.77 1/1 99 98 0 98 1.0 exonic rs6877400 CNOT6 AU synonymous SNV NM_001303241 exon12 c.C1029T p.S343S 0.853529 0.9103 0.9999 Uncertain 5_179998454_C->T 5 179998454 179998454 C T snp 2036.77 0/1 99 162 84 78 0.48 intronic rs13164597 CNOT6 AU NM_001303241 exon13 c.42156+22C>T 0.364816 0.2143 0.486775 0.4818 0.2426 Uncertain 5_180017399_T->C 5 180017399 180017399 T C snp 155.77 0/1 99 14 7 7 0.5 intronic rs450383 SCGB3A1 AU NM_052863 exon1 c.24+145T>C 0.171725 0.0744 Uncertain 5_180038248_-->C 5 180038248 180038248 - C indel 9096.73 1/1 99 250 2 248 0.99 intronic rs35683852 FLT4 AU,AD NM_182925 exon4 c.8139-82insC 0.575479 0.5238 Uncertain 5_180038545_A->G 5 180038545 180038545 A G snp 225.77 0/1 99 13 6 7 0.54 intronic rs744283 FLT4 AU,AD NM_182925 exon4 c.8288+66A>G 0.113019 0.1657 Uncertain 5_180041001_G->C 5 180041001 180041001 G C snp 4348.77 1/1 99 145 0 145 1.0 intronic rs421662 FLT4 AU,AD NM_182925 exon7 c.10876-66G>C 0.905551 0.8294 Uncertain 5_180041008_T->C 5 180041008 180041008 T C snp 4676.77 1/1 99 160 0 160 1.0 intronic rs366388 FLT4 AU,AD NM_182925 exon7 c.10876-59T>C 0.880591 0.8294 Uncertain 5_180041208_T->C 5 180041208 180041208 T C snp 1805.77 0/1 99 129 59 70 0.54 intronic rs659268 FLT4 AU,AD NM_182925 exon7 c.10988+29T>C 0.671925 0.5784 0.680993 0.6967 0.5527 Uncertain 5_180041274_T->C 5 180041274 180041274 T C snp 1038.77 1/1 78 28 0 28 1.0 intronic rs2927582 FLT4 AU,AD NM_182925 exon7 c.10988+95T>C 0.902955 0.8284 Uncertain 5_180041276_C->T 5 180041276 180041276 C T snp 161.77 0/1 99 24 16 8 0.33 intronic rs13188530 FLT4 AU,AD NM_182925 exon7 c.10988+97C>T Uncertain 5_180041310_T->C 5 180041310 180041310 T C snp 118.03 1/1 12 4 0 4 1.0 intronic rs7700544 FLT4 AU,AD NM_182925 exon7 c.10988+131T>C Uncertain 5_180043388_G->A 5 180043388 180043388 G A snp 3279.77 0/1 99 248 117 131 0.53 exonic rs1130378 FLT4 AU,AD synonymous SNV NM_002020 exon23 c.C3198T p.P1066P 0.240415 0.2619 0.252576 0.2700 0.2506 Uncertain 5_180043731_C->A 5 180043731 180043731 C A snp 1094.77 0/1 99 89 43 46 0.52 intronic rs3765095 FLT4 AU,AD NM_182925 exon9 c.13708-168C>A 0.248602 0.2609 Uncertain 5_180045700_-->GGTTACCCTA 5 180045700 180045700 - GGTTACCCTA indel 2411.73 0/1 99 48 28 20 0.42 intronic rs3214903 FLT4 AU,AD NM_182925 exon10 c.15578-69insGGTTACCCTA 0.640176 0.5665 Uncertain 5_180046209_C->T 5 180046209 180046209 C T snp 1554.77 0/1 99 121 56 65 0.54 intronic rs446003 FLT4 AU,AD NM_182925 exon12 c.16061-43C>T 0.631789 0.5139 0.678624 0.7186 0.5864 Uncertain 5_180046344_G->C 5 180046344 180046344 G C snp 2246.77 0/1 99 137 47 90 0.66 exonic rs448012 FLT4 AU,AD nonsynonymous SNV NM_002020 exon19 c.C2670G p.H890Q 0.582668 0.497 0.597013 0.6247 0.4864 0.29 T 1.000 P -0.907 T 0.18 T 0.285 T Pathogenic 5_180046426_-->TGGCCGCTTAGCTAAGGCACAG 5 180046426 180046426 - TGGCCGCTTAGCTAAGGCACAG indel 7149.73 0/1 99 54 17 37 0.69 intronic rs70973949 FLT4 AU,AD NM_182925 exon12 c.16175+60insTGGCCGCTTAGCTAAGGCACAG 0.631589 0.5536 0.593810 0.6595 0.5046 Uncertain 5_180046493_AG->- 5 180046493 180046494 AG - indel 1719.73 0/1 99 68 29 39 0.57 intronic rs201407038 FLT4 AU,AD NM_182925 exon12 c.16175+127_16175+128delAG 0.655152 0.5665 0.654702 0.6789 0.5469 ID=COSM1595268;OCCURENCE=1(endometrium) Uncertain 5_180046885_G->A 5 180046885 180046885 G A snp 122.77 0/1 66 6 2 4 0.67 intronic rs10061500 FLT4 AU,AD NM_182925 exon13 c.16578+116G>A 0.0964457 0.1865 Uncertain 5_180047412_T->C 5 180047412 180047412 T C snp 1345.77 0/1 99 75 25 50 0.67 intronic rs382266 FLT4 AU,AD NM_182925 exon14 c.17117+104T>C 0.8125 0.6339 Uncertain 5_180047863_C->G 5 180047863 180047863 C G snp 724.77 1/1 54 25 0 25 1.0 intronic rs423086 FLT4 AU,AD NM_182925 exon16 c.17684-12C>G 0.960064 1 0.953139 0.9876 1 Uncertain 5_180048035_T->C 5 180048035 180048035 T C snp 2858.77 0/1 99 230 108 122 0.53 intronic rs2242215 FLT4 AU,AD NM_182925 exon16 c.17816+28T>C 0.096246 0.1885 0.054555 0.0764 0.1878 Uncertain 5_180048056_C->T 5 180048056 180048056 C T snp 3242.77 0/1 99 250 121 129 0.52 intronic rs2242214 FLT4 AU,AD NM_182925 exon17 c.17914-49C>T 0.243211 0.255 0.248538 0.2422 0.2530 Uncertain 5_180048986_-->CCTC 5 180048986 180048986 - CCTC indel 445.75 1/1 24 12 0 12 1.0 intronic rs10635355 FLT4 AU,AD NM_182925 exon18 c.18713+82insCCTC 0.745208 0.8095 Uncertain 5_180049907_G->A 5 180049907 180049907 G A snp 751.77 1/1 54 29 0 29 1.0 intronic rs2242208 FLT4 AU,AD NM_182925 exon19 c.19648+68G>A 0.0840655 0.1915 Uncertain 5_180049927_CA->- 5 180049927 180049928 CA - indel 832.73 1/1 57 19 0 19 1.0 intronic FLT4 AU,AD NM_182925 exon19 c.19648+88_19648+89delCA 0.84984 0.999 Uncertain 5_180053090_G->A 5 180053090 180053090 G A snp 6077.77 1/1 99 229 0 229 1.0 intronic rs56401579 FLT4 AU,AD NM_182925 exon22 c.22919-20G>A 0.0832668 0.1964 0.037225 0.0522 0.1844 Uncertain 5_180053097_C->T 5 180053097 180053097 C T snp 6260.77 1/1 99 238 1 237 1.0 intronic rs56193546 FLT4 AU,AD NM_182925 exon22 c.22919-13C>T 0.0860623 0.1964 0.041231 0.0532 0.1853 Uncertain 5_180053307_A->G 5 180053307 180053307 A G snp 2095.77 1/1 99 71 1 70 0.99 intronic rs402647 FLT4 AU,AD NM_182925 exon22 c.23074+42A>G 0.941494 1 0.930385 0.9811 1 Uncertain 5_180055849_T->G 5 180055849 180055849 T G snp 1554.77 1/1 99 48 0 48 1.0 intronic rs75361132 FLT4 AU,AD NM_182925 exon23 c.25690-32T>G 0.125 0.4345 0.021390 0.0692 0.4583 Uncertain 5_180055862_T->G 5 180055862 180055862 T G snp 2320.77 1/1 99 73 0 73 1.0 intronic rs383985 FLT4 AU,AD NM_182925 exon23 c.25690-19T>G 0.648363 0.8224 0.413721 0.6016 0.8173 Uncertain 5_180056620_G->A 5 180056620 180056620 G A snp 1370.77 1/1 99 34 0 34 1.0 intronic rs414348 FLT4 AU,AD NM_182925 exon25 c.26504-75G>A 0.933906 1 Uncertain 5_180057356_C->G 5 180057356 180057356 C G snp 2702.77 1/1 99 92 0 92 1.0 intronic rs56188706 FLT4 AU,AD NM_182925 exon27 c.27146+19C>G 0.171725 0.5317 0.090006 0.1300 0.5658 Uncertain 5_180057538_C->T 5 180057538 180057538 C T snp 5090.77 1/1 99 179 0 179 1.0 intronic rs59410886 FLT4 AU,AD NM_182925 exon28 c.27363-16C>T 0.0844649 0.3859 0.003618 0.0465 0.4313 Uncertain 5_180165976_-->C 5 180165976 180165976 - C indel 127.7 0/1 6 17 3 14 0.82 downstream rs150261063 OR2Y1 AU 0.252995 0.4375 Uncertain 5_180165983_G->C 5 180165983 180165983 G C snp 722.77 1/1 57 22 1 21 0.95 downstream rs2054696 OR2Y1 AU 0.95627 1 Uncertain 5_180166461_C->G 5 180166461 180166461 C G snp 4303.77 1/1 99 136 0 136 1.0 exonic rs10464105 OR2Y1 AU nonsynonymous SNV NM_001001657 exon1 c.G598C p.V200L 0.921326 1 0.920268 0.9681 0.9999 0.08 T 0.0 P -0.903 T 0.985 D 0.765 D Pathogenic 5_180218668_A->G 5 180218668 180218668 A G snp 2896.77 0/1 99 250 131 119 0.48 exonic rs634501 MGAT1 AU nonsynonymous SNV NM_001114618 exon3 c.T1304C p.L435P 0.733027 0.5526 0.767876 0.7286 0.5451 0.27 T 0.005 P -0.953 T 0.0 T 0.003 T Pathogenic 5_180276402_C->T 5 180276402 180276402 C T snp 5438.77 1/1 99 192 0 192 1.0 exonic rs168726 ZFP62 AU nonsynonymous SNV NM_001172638 exon2 c.G2093A p.R698K 0.836661 0.9851 0.783837 0.8091 0.9865 0.07 T 0.000 P -0.974 T 0.0 T 0.0 T Pathogenic 5_180278393_C->G 5 180278393 180278393 C G snp 7142.77 1/1 99 247 0 247 1.0 exonic rs705441 ZFP62 AU nonsynonymous SNV NM_001172638 exon2 c.G102C p.M34I 0.713658 0.9603 0.7528 0.9518 0.14 T 0.000 P -1.053 T 0.0 T 0.0 T Pathogenic 5_180288239_G->A 5 180288239 180288239 G A snp 1033.77 1/1 75 44 0 44 1.0 UTR5 rs2121117 ZFP62 AU 0.828874 0.9742 1 . Uncertain 5_180482228_T->A 5 180482228 180482228 T A snp 433.77 0/1 99 28 12 16 0.57 intronic BTNL9 AU NM_152547 exon8 c.9943-204T>A Uncertain 5_180483441_C->T 5 180483441 180483441 C T snp 2013.77 0/1 99 177 94 83 0.47 intronic rs77420075 BTNL9 AU NM_152547 exon9 c.10526+426C>T 0.0133786 0.0317 Uncertain 5_180486224_T->G 5 180486224 180486224 T G snp 952.77 1/1 69 31 0 31 1.0 intronic rs7379015 BTNL9 AU NM_152547 exon11 c.13747-12T>G 0.783147 0.7956 0.785025 0.8333 0.8011 Uncertain 5_180486247_G->T 5 180486247 180486247 G T snp 1117.77 1/1 81 37 0 37 1.0 exonic rs6601166 BTNL9 AU synonymous SNV NM_152547 exon11 c.G993T p.T331T 0.669728 0.7659 0.624655 0.7204 0.7783 Uncertain 5_180486785_G->C 5 180486785 180486785 G C snp 6875.77 1/1 99 245 0 245 1.0 exonic rs10068763 BTNL9 AU nonsynonymous SNV NM_152547 exon11 c.G1531C p.G511R 0.766174 0.7321 0.728391 0.7113 0.7207 0.61 T 0.0 P -1.026 T 0.0 T 0.0 T Pathogenic 5_180486841_C->T 5 180486841 180486841 C T snp 4529.77 1/1 99 167 0 167 1.0 exonic rs10054109 BTNL9 AU synonymous SNV NM_152547 exon11 c.C1587T p.D529D 0.446885 0.5933 0.394847 0.5348 0.6279 Uncertain 5_180486891_-->G 5 180486891 180486891 - G indel 2550.73 1/1 99 87 0 87 1.0 UTR3 rs33927456 BTNL9 AU 0.661342 0.7321 0.600610 0.7012 0.7971 Uncertain 5_180552412_G->C 5 180552412 180552412 G C snp 557.77 1/1 42 16 0 16 1.0 upstream rs7724668 OR2V1 AU 0.641573 0.4236 Uncertain 5_180582257_TGTC->- 5 180582257 180582260 TGTC - indel 785.73 0/1 99 31 17 14 0.45 exonic rs140598308 OR2V2 AU frameshift deletion NM_206880 exon1 c.315_318del p.F105fs 0.0772764 0.0159 0.085942 0.0675 0.0312 Pathogenic 5_180582604_A->G 5 180582604 180582604 A G snp 4288.77 1/1 99 156 0 156 1.0 exonic rs2546423 OR2V2 AU nonsynonymous SNV NM_206880 exon1 c.A662G p.H221R 0.656749 0.5665 0.616562 0.5922 0.5639 0.83 T 0.0 P -0.940 T 0.0 T 0.002 T Pathogenic 5_180582980_G->A 5 180582980 180582980 G A snp 1080.77 0/1 99 100 49 51 0.51 downstream rs7380309 OR2V2 AU 0.499201 0.5159 Uncertain 5_180583043_T->A 5 180583043 180583043 T A snp 418.77 0/1 99 27 13 14 0.52 downstream rs34945347 OR2V2 AU 0.123602 0.0238 Uncertain 5_180583059_T->A 5 180583059 180583059 T A snp 166.77 0/1 99 15 9 6 0.4 downstream rs113583315 OR2V2 AU Uncertain 5_180583063_TTTCTTTCTTTT->- 5 180583063 180583074 TTTCTTTCTTTT - indel 568.73 0/1 99 15 7 8 0.53 downstream rs150870979 OR2V2 AU Uncertain 5_180583079_T->G 5 180583079 180583079 T G snp 100.77 0/1 99 10 5 5 0.5 downstream rs6876056 OR2V2 AU Uncertain 5_180583087_G->T 5 180583087 180583087 G T snp 74.77 0/1 99 7 4 3 0.43 downstream rs202139595 OR2V2 AU 0.533746 0.8175 Uncertain 5_180625672_T->C 5 180625672 180625672 T C snp 389.77 0/1 99 47 30 17 0.36 intronic rs2770940 TRIM7 AU NM_203295 exon3 c.3524-17T>C 0.266973 0.0446 0.253345 0.1422 0.0482 Uncertain 5_180626036_G->C 5 180626036 180626036 G C snp 463.77 0/1 99 48 28 20 0.42 intronic rs2770941 TRIM7 AU NM_203295 exon4 c.3929-58G>C 0.204273 0.0218 0.196452 Uncertain 5_180626224_A->G 5 180626224 180626224 A G snp 816.77 0/1 99 88 51 37 0.42 intronic rs2391740 TRIM7 AU NM_203295 exon4 c.3952+107A>G 0.264377 0.0446 Uncertain 5_180626254_C->T 5 180626254 180626254 C T snp 442.77 0/1 99 47 27 20 0.43 intronic rs2545053 TRIM7 AU NM_203295 exon4 c.3952+137C>T 0.20647 0.0218 Uncertain 5_180626341_G->A 5 180626341 180626341 G A snp 31.77 0/1 60 6 4 2 0.33 intronic rs2261205 TRIM7 AU NM_203295 exon4 c.3952+224G>A 0.207069 0.0218 Uncertain 5_180626927_A->G 5 180626927 180626927 A G snp 2532.77 0/1 99 211 111 100 0.47 exonic rs416574 TRIM7 AU nonsynonymous SNV NM_203297 exon1 c.T227C p.V76A 0.532947 0.4732 0.472320 0.3769 0.4708 0.38 T 0.0 P -1.082 T 0.0 T 0.0 T Pathogenic 5_180627224_G->A 5 180627224 180627224 G A snp 425.77 0/1 99 27 12 15 0.56 UTR5 rs2546397 TRIM7 AU 0.202476 0.0218 Uncertain 5_180630667_G->A 5 180630667 180630667 G A snp 779.77 0/1 99 79 41 38 0.48 intronic rs4976838 TRIM7 AU NM_203295 exon6 c.8475+27G>A 0.0423323 0.0169 0.036445 0.0565 0.0142 Uncertain 5_180631817_T->C 5 180631817 180631817 T C snp 625.77 0/1 99 48 23 25 0.52 exonic rs2545112 TRIM7 AU synonymous SNV NM_033342 exon1 c.A294G p.A98A 0.50619 0.4891 0.4282 0.3333 Uncertain 6_203878_C->T 6 203878 203878 C T snp 298.77 0/1 99 17 8 9 0.53 ncRNA_intronic rs9392298 LOC285766 AU 0.246206 0.4554 Uncertain 6_292695_C->- 6 292695 292695 C - indel 639.73 0/1 99 54 29 25 0.46 intronic rs3832447 DUSP22 AU NM_020185 exon1 c.21+135delC 0.467652 0.3661 Uncertain 6_335069_T->A 6 335069 335069 T A snp 164.77 0/1 99 23 15 8 0.35 intronic rs7753848 DUSP22 AU NM_020185 exon4 c.42574-44T>A 0.069920 0.0812 0.2210 Uncertain 6_335175_A->T 6 335175 335175 A T snp 3347.77 1/1 99 122 0 122 1.0 intronic rs2671431 DUSP22 AU NM_020185 exon4 c.42624+12A>T 0.997804 1 0.998001 0.9993 1 Uncertain 6_335251_T->C 6 335251 335251 T C snp 733.77 0/1 99 166 127 39 0.23 intronic rs3757305 DUSP22 AU NM_020185 exon4 c.42624+88T>C 0.484225 0.4663 Uncertain 6_335253_T->C 6 335253 335253 T C snp 671.77 0/1 99 163 125 38 0.23 intronic rs3757306 DUSP22 AU NM_020185 exon4 c.42624+90T>C 0.484225 0.4663 Uncertain 6_335268_C->T 6 335268 335268 C T snp 2216.77 0/1 99 160 58 102 0.64 intronic rs4959733 DUSP22 AU NM_020185 exon4 c.42624+105C>T Uncertain 6_335424_C->T 6 335424 335424 C T snp 68.77 0/1 97 8 5 3 0.38 intronic rs73717035 DUSP22 AU NM_020185 exon4 c.42624+261C>T Uncertain 6_346429_-->ACACAC 6 346429 346429 - ACACAC indel 7843.73 0/1 99 230 68 162 0.7 intronic rs10642379 DUSP22 AU NM_020185 exon5 c.53389+501insACACAC Uncertain 6_348051_A->G 6 348051 348051 A G snp 175.77 0/1 99 41 33 8 0.2 intronic rs1877172 DUSP22 AU NM_020185 exon6 c.55563-51A>G 0.435473 Uncertain 6_348080_A->G 6 348080 348080 A G snp 2824.77 1/1 99 84 0 84 1.0 intronic rs2797333 DUSP22 AU NM_020185 exon6 c.55563-22A>G 0.997005 1 0.997078 0.9988 1 Uncertain 6_348906_G->A 6 348906 348906 G A snp 590.77 0/1 99 55 31 24 0.44 exonic rs11242812 DUSP22 AU synonymous SNV NM_001286555 exon7 c.G573A p.P191P 0.4882 0.4839 1.000 N -0.990 T Likely benign 6_350829_G->A 6 350829 350829 G A snp 1963.77 0/1 99 250 165 85 0.34 UTR3 rs1129085 DUSP22 AU 0.357297 0.3887 0.4978 Uncertain 6_350940_-->A 6 350940 350940 - A indel 1290.73 0/1 99 118 75 43 0.36 UTR3 rs11408655 DUSP22 AU 0.482508 Uncertain 6_367243_T->C 6 367243 367243 T C snp 553.77 0/1 99 78 53 25 0.32 intergenic rs7776416 DUSP22 AU 0.453874 0.4226 Uncertain 6_367352_C->T 6 367352 367352 C T snp 1460.77 0/1 99 250 178 72 0.29 intergenic rs7764099 DUSP22 AU Uncertain 6_367552_C->T 6 367552 367552 C T snp 385.77 0/1 99 65 49 16 0.25 intergenic rs12527701 DUSP22 AU Uncertain 6_394643_C->T 6 394643 394643 C T snp 158.77 0/1 99 9 4 5 0.56 intronic rs2671428 IRF4 AU NM_001195286 exon3 c.1668-177C>T 0.0934505 0.1171 Uncertain 6_394711_T->A 6 394711 394711 T A snp 1202.77 0/1 99 63 27 36 0.57 intronic rs2797308 IRF4 AU NM_001195286 exon3 c.1668-109T>A 0.0924521 0.1171 Uncertain 6_396961_G->A 6 396961 396961 G A snp 222.77 0/1 99 17 7 10 0.59 intronic rs12661997 IRF4 AU NM_002460 exon5 c.3955-146G>A Uncertain 6_396975_T->C 6 396975 396975 T C snp 567.77 0/1 99 30 11 19 0.63 intronic rs2797309 IRF4 AU NM_002460 exon5 c.3955-132T>C Uncertain 6_397013_G->A 6 397013 397013 G A snp 1803.77 0/1 99 114 46 68 0.6 intronic rs12662302 IRF4 AU NM_002460 exon5 c.3955-94G>A Uncertain 6_397039_CTCCTGCACTCCTTTAC->- 6 397039 397055 CTCCTGCACTCCTTTAC - indel 14061.7 0/1 99 152 80 72 0.47 intronic rs531593232 IRF4 AU NM_002460 exon5 c.3955-68_3955-52delCTCCTGCACTCCTTTAC 0.264177 0.4018 Uncertain 6_397290_T->C 6 397290 397290 T C snp 2217.77 0/1 99 175 95 80 0.46 intronic rs1775589 IRF4 AU NM_001195286 exon5 c.4100+38T>C 0.320288 0.5169 0.182377 0.2092 0.5270 Uncertain 6_398775_G->A 6 398775 398775 G A snp 908.77 0/1 99 89 48 41 0.46 intronic rs2671422 IRF4 AU NM_001195286 exon6 c.5675-52G>A 0.33147 0.5119 Uncertain 6_407656_G->A 6 407656 407656 G A snp 48.74 1/1 6 3 0 3 1.0 UTR3 rs1131442 IRF4 AU 0.394169 0.5387 Uncertain 6_497520_G->C 6 497520 497520 G C snp 3941.77 1/1 99 134 0 134 1.0 intronic rs6909878 EXOC2 AU NM_018303 exon4 c.10819+31G>C 0.375998 0.7123 0.360910 0.4305 0.7215 Uncertain 6_554045_-->T 6 554045 554045 - T indel 89.87 1/1 15 16 0 16 1.0 intronic rs11399543 EXOC2 AU NM_018303 exon8 c.67250+125insT 0.769169 0.7599 Uncertain 6_556106_G->A 6 556106 556106 G A snp 806.77 0/1 99 60 29 31 0.52 intronic rs2064302 EXOC2 AU NM_018303 exon10 c.69343+93G>A 0.157149 0.4196 Uncertain 6_556147_C->T 6 556147 556147 C T snp 1101.77 1/1 81 36 0 36 1.0 intronic rs2476844 EXOC2 AU NM_018303 exon10 c.69343+134C>T 0.978634 0.998 Uncertain 6_556655_C->T 6 556655 556655 C T snp 1456.77 0/1 99 144 78 66 0.46 intronic rs2245544 EXOC2 AU NM_018303 exon11 c.69894+91C>T 0.134784 0.4206 Uncertain 6_562963_G->A 6 562963 562963 G A snp 56.74 1/1 6 2 0 2 1.0 intronic EXOC2 AU NM_018303 exon12 c.76175+118G>A Uncertain 6_564145_A->G 6 564145 564145 A G snp 2487.77 0/1 99 248 139 109 0.44 exonic rs2277095 EXOC2 AU synonymous SNV NM_018303 exon16 c.T1677C p.H559H 0.135783 0.4266 0.052207 0.0712 0.4381 Uncertain 6_564515_G->T 6 564515 564515 G T snp 350.77 0/1 99 87 65 22 0.25 intronic rs2277096 EXOC2 AU NM_018303 exon14 c.77874-29G>T 0.422125 0.3859 0.353990 0.4629 0.3602 Uncertain 6_572330_A->G 6 572330 572330 A G snp 43.77 0/1 70 4 2 2 0.5 intronic rs2281252 EXOC2 AU NM_018303 exon16 c.85849-189A>G 0.133187 0.4028 Uncertain 6_572480_G->A 6 572480 572480 G A snp 988.77 0/1 99 77 37 40 0.52 intronic rs2073009 EXOC2 AU NM_018303 exon16 c.85849-39G>A 0.497005 0.3532 0.502307 0.5345 0.3354 Uncertain 6_572714_C->T 6 572714 572714 C T snp 253.77 0/1 99 35 21 14 0.4 intronic rs12154040 EXOC2 AU NM_018303 exon16 c.85974+70C>T 0.467652 0.3502 Uncertain 6_597871_G->A 6 597871 597871 G A snp 583.77 1/1 45 15 0 15 1.0 intronic rs4960092 EXOC2 AU NM_018303 exon19 c.111350-149G>A 0.826677 0.8571 Uncertain 6_599042_T->A 6 599042 599042 T A snp 2603.77 1/1 99 88 0 88 1.0 intronic rs2294664 EXOC2 AU NM_018303 exon21 c.112409-37T>A 0.481829 0.6419 0.484851 0.5257 0.6129 Uncertain 6_601244_A->G 6 601244 601244 A G snp 860.77 1/1 63 28 0 28 1.0 intronic rs1766844 EXOC2 AU NM_018303 exon21 c.112555+2019A>G 0.787939 0.871 Uncertain 6_656143_C->A 6 656143 656143 C A snp 3926.77 1/1 99 140 0 140 1.0 exonic rs1211554 HUS1B AU nonsynonymous SNV NM_148959 exon1 c.G802T p.D268Y 0.740016 0.8581 0.761341 0.8489 0.8378 0.02 T 1.000 P -1.016 T 0.664 T 0.331 P ID=CM062777;DIS=Leukemia, risk, association with;TAG=DP;PUB=16574953 DP Pathogenic 6_1053665_T->C 6 1053665 1053665 T C snp 2817.77 1/1 99 89 0 89 1.0 ncRNA_intronic rs4960488 LOC285768 AU 0.549121 0.8075 Uncertain 6_1053816_C->T 6 1053816 1053816 C T snp 5857.77 1/1 99 210 0 210 1.0 ncRNA_intronic rs12194400 LOC285768 AU 0.435104 0.7361 Uncertain 6_1101323_T->C 6 1101323 1101323 T C snp 821.77 1/1 60 23 0 23 1.0 ncRNA_exonic rs2076494 LOC285768 AU 0.345847 0.3065 Uncertain 6_1101608_G->A 6 1101608 1101608 G A snp 385.77 0/1 99 22 7 15 0.68 upstream rs7744389 LOC285768 AU 0.192891 0.0476 Uncertain 6_1102488_G->A 6 1102488 1102488 G A snp 149.77 0/1 99 10 4 6 0.6 upstream rs7749569 LOC285768 AU 0.255192 0.2163 Uncertain 6_1313952_A->G 6 1313952 1313952 A G snp 851.77 1/1 63 25 0 25 1.0 exonic rs992327 FOXQ1 AU nonsynonymous SNV NM_033260 exon1 c.A1013G p.E338G 0.6248 0.5843 0 . 0.43 T 0.0 P -1.024 T 0.0 T 0.0 T Pathogenic 6_1390276_-->CCG 6 1390276 1390276 - CCG indel 236.73 0/1 99 10 4 6 0.6 exonic rs752348150 FOXF2 AU nonframeshift insertion NM_001452 exon1 c.94_95insCCG p.P32delinsPA 0.0271 0.0758 Uncertain 6_1390444_G->A 6 1390444 1390444 G A snp 559.77 0/1 99 44 22 22 0.5 exonic rs72667003 FOXF2 AU nonsynonymous SNV NM_001452 exon1 c.G262A p.A88T 0.0251597 0.0308 0.026325 0.1020 0.195 0.46 T 1.000 N -0.795 T 0.0 T 0.0 T Pathogenic 6_1391085_-->GGC 6 1391085 1391085 - GGC indel 691.73 1/1 42 19 0 19 1.0 exonic rs111257067 FOXF2 AU nonframeshift insertion NM_001452 exon1 c.903_904insGGC p.G301delinsGG 0.392772 0.497 0.369833 0.6837 0.8214 Uncertain 6_1395043_T->C 6 1395043 1395043 T C snp 2170.77 0/1 99 224 129 95 0.42 exonic rs2293783 FOXF2 AU synonymous SNV NM_001452 exon2 c.T1284C p.Y428Y 0.217252 0.2698 0.197909 0.2170 0.2352 Uncertain 6_1611802_-->GGC 6 1611802 1611802 - GGC indel 843.73 0/1 99 49 19 30 0.61 exonic rs398123611 FOXC1 AD nonframeshift insertion NM_001453 exon1 c.1122_1123insGGC p.S374delinsSG 0.152157 0.2867 0.162722 0.0614 0.1389 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000079683.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 6_1612017_-->CGG 6 1612017 1612017 - CGG indel 954.73 0/1 99 57 22 35 0.61 exonic rs398123612 FOXC1 AD nonframeshift insertion NM_001453 exon1 c.1337_1338insCGG p.H446delinsHG 0.2174 0.3774 CLINSIG=unknown;CLNDBN=not_provided;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000079684.3;CLNDSDB=MedGen;CLNDSDBID=CN221809 Uncertain 6_1726623_C->T 6 1726623 1726623 C T snp 1120.77 0/1 99 74 32 42 0.57 intronic rs960295 GMDS AU NM_001253846 exon3 c.102246-26C>T 0.216454 0.371 0.186606 0.2512 0.3845 Uncertain 6_1742513_A->G 6 1742513 1742513 A G snp 243.77 0/1 99 12 4 8 0.67 intronic rs12200248 GMDS AU NM_001253846 exon4 c.118298-188A>G 0.487021 0.6617 Uncertain 6_1742518_C->T 6 1742518 1742518 C T snp 310.77 0/1 99 13 4 9 0.69 intronic rs4959155 GMDS AU NM_001253846 exon4 c.118298-183C>T 0.487021 0.6617 Uncertain 6_1742794_A->G 6 1742794 1742794 A G snp 2524.77 0/1 99 180 78 102 0.57 exonic rs3734739 GMDS AU synonymous SNV NM_001500 exon8 c.T798C p.D266D 0.486821 0.6607 0.405044 0.4831 0.6493 Uncertain 6_1742908_C->G 6 1742908 1742908 C G snp 367.77 0/1 99 19 8 11 0.58 intronic rs3734740 GMDS AU NM_001253846 exon4 c.118417+88C>G 0.487021 0.6617 Uncertain 6_1960335_C->G 6 1960335 1960335 C G snp 106.77 0/1 99 12 6 6 0.5 intronic rs1323632 GMDS AU NM_001253846 exon6 c.335802+130C>G 0.426717 0.4623 Uncertain 6_2245345_A->G 6 2245345 2245345 A G snp 59.74 1/1 6 3 0 3 1.0 intronic rs2479016 GMDS AU NM_001500 exon11 c.621151-209A>G 0.702476 0.7937 Uncertain 6_2623820_G->A 6 2623820 2623820 G A snp 1763.77 0/1 99 132 60 72 0.55 exonic rs6902511 C6orf195 AU synonymous SNV NM_152554 exon3 c.C237T p.C79C 0.323682 0.4921 0.219774 0.3293 0.4917 Uncertain 6_2671394_G->A 6 2671394 2671394 G A snp 474.77 1/1 36 14 1 13 0.93 intronic rs1324496 MYLK4 AU 0.508786 0.8899 Uncertain 6_2675432_-->C 6 2675432 2675432 - C indel 353.73 0/1 99 17 6 11 0.65 intronic rs138496389 MYLK4 AU NM_001012418 exon3 c.3825+73insC 0.205871 0.4216 Uncertain 6_2678750_T->C 6 2678750 2678750 T C snp 309.78 1/1 24 9 0 9 1.0 intronic rs4959699 MYLK4 AU NM_001012418 exon4 c.7072+144T>C 0.576478 0.879 Uncertain 6_2679676_G->A 6 2679676 2679676 G A snp 1314.77 0/1 99 127 69 58 0.46 intronic rs12523992 MYLK4 AU NM_001012418 exon5 c.8108+34G>A 0.226238 0.4236 0.133861 0.2065 0.4525 0.0 P -0.998 T Uncertain 6_2683439_T->A 6 2683439 2683439 T A snp 1929.77 1/1 99 55 0 55 1.0 intronic rs898772 MYLK4 AU NM_001012418 exon7 c.11862+43T>A 0.950679 1 0.946179 0.9725 1 Uncertain 6_2685677_T->C 6 2685677 2685677 T C snp 4673.77 1/1 99 163 1 162 0.99 intronic rs966232 MYLK4 AU NM_001012418 exon8 c.14105+38T>C 0.807508 0.8968 0.726357 0.7488 0.9093 Uncertain 6_2685904_T->C 6 2685904 2685904 T C snp 444.77 0/1 99 33 17 16 0.48 intronic rs10498657 MYLK4 AU NM_001012418 exon9 c.14276+94T>C 0.291134 0.4286 Uncertain 6_2689217_A->C 6 2689217 2689217 A C snp 993.77 0/1 99 72 31 41 0.57 intronic rs6930915 MYLK4 AU NM_001012418 exon10 c.17656+27A>C 0.490415 0.4573 0.462710 0.4370 0.4441 Uncertain 6_2689340_T->A 6 2689340 2689340 T A snp 226.77 0/1 99 18 6 12 0.67 intronic rs6935749 MYLK4 AU NM_001012418 exon10 c.17656+150T>A 0.349042 0.4405 Uncertain 6_2749661_A->G 6 2749661 2749661 A G snp 277.77 0/1 99 24 15 9 0.38 intronic rs2296355 MYLK4 AU NM_001012418 exon12 c.78106+21A>G 0.361222 0.3909 Uncertain 6_2766144_T->C 6 2766144 2766144 T C snp 229.77 0/1 99 26 14 12 0.46 exonic rs17851692 WRNIP1 AU synonymous SNV NM_020135 exon1 c.T288C p.G96G 0.356629 0.3611 0.238498 0.4117 0.4575 Uncertain 6_2766465_T->C 6 2766465 2766465 T C snp 1915.77 1/1 99 70 0 70 1.0 exonic rs8333 WRNIP1 AU synonymous SNV NM_020135 exon1 c.T609C p.S203S 0.428315 0.4345 0.6533 0.6325 Uncertain 6_2766727_A->G 6 2766727 2766727 A G snp 869.77 0/1 99 101 65 36 0.36 intronic rs3757094 WRNIP1 AU NM_020135 exon1 c.822+49A>G 0.304712 0.3522 0.238614 0.3554 0.3918 Uncertain 6_2766779_G->A 6 2766779 2766779 G A snp 444.77 0/1 99 38 22 16 0.42 intronic rs3757093 WRNIP1 AU NM_020135 exon1 c.822+101G>A 0.27516 0.3611 Uncertain 6_2783894_C->G 6 2783894 2783894 C G snp 50.74 1/1 6 4 0 4 1.0 intronic WRNIP1 AU NM_020135 exon5 c.17939+99C>G Uncertain 6_2783899_T->G 6 2783899 2783899 T G snp 39.74 1/1 6 4 0 4 1.0 intronic WRNIP1 AU NM_020135 exon5 c.17939+104T>G Uncertain 6_2783903_C->G 6 2783903 2783903 C G snp 45.74 1/1 6 4 0 4 1.0 intronic WRNIP1 AU NM_020135 exon5 c.17939+108C>G Uncertain 6_2784571_G->A 6 2784571 2784571 G A snp 1185.77 0/1 99 84 38 46 0.55 exonic rs160703 WRNIP1 AU synonymous SNV NM_020135 exon6 c.G1656A p.P552P 0.210064 0.256 0.165539 0.2273 0.27 Uncertain 6_2890283_A->G 6 2890283 2890283 A G snp 54.74 1/1 6 2 0 2 1.0 ncRNA_intronic rs318486 LOC101927730 AU 0.624601 0.5585 Uncertain 6_2948965_C->T 6 2948965 2948965 C T snp 4633.77 1/1 99 164 1 163 0.99 intronic rs318426 SERPINB6 AU NM_001297700 exon1 c.402+32C>T 0.884185 0.9663 0.837306 0.8613 0.9723 Uncertain 6_2953252_T->C 6 2953252 2953252 T C snp 1114.77 0/1 99 72 33 39 0.54 intronic rs2244693 SERPINB6 AU NM_001297700 exon3 c.4746-25T>C 0.665535 0.7887 0.628787 0.6759 0.8020 Uncertain 6_2953445_A->G 6 2953445 2953445 A G snp 2974.77 1/1 99 103 0 103 1.0 intronic rs3818276 SERPINB6 AU NM_001297700 exon3 c.4889+25A>G 0.897364 0.9653 0.847993 0.8646 0.9721 Uncertain 6_2953496_C->G 6 2953496 2953496 C G snp 664.77 0/1 99 39 15 24 0.62 intronic rs12209811 SERPINB6 AU NM_001297700 exon3 c.4889+76C>G 0.216853 0.1726 Uncertain 6_2959513_C->T 6 2959513 2959513 C T snp 1785.77 0/1 99 201 115 86 0.43 exonic rs2236277 SERPINB6 AU synonymous SNV NM_004568 exon2 c.G54A p.T18T 0.341254 0.4841 0.274181 0.3410 0.4973 0.001 P -1.015 T CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000037111.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Likely benign 6_2966558_-->T 6 2966558 2966558 - T indel 75.73 0/1 99 17 11 6 0.35 intronic rs143603968 SERPINB6 AU NM_001195291 exon7 c.20481-2454insT 0.257188 0.4147 Uncertain 6_2966681_C->T 6 2966681 2966681 C T snp 182.77 0/1 99 29 18 11 0.38 intronic rs7751512 SERPINB6 AU NM_001195291 exon7 c.20481-2331C>T 0.333666 0.4504 Uncertain 6_3006687_C->T 6 3006687 3006687 C T snp 529.77 0/1 99 44 19 25 0.57 intronic rs3757080 NQO2 AD 0.0611022 0.1558 0.0956 0.2486 Uncertain 6_3010390_C->T 6 3010390 3010390 C T snp 1558.77 0/1 99 137 68 69 0.5 exonic rs1143684 NQO2 AD nonsynonymous SNV NM_000904 exon3 c.C139T p.L47F 0.797524 0.6558 0.842842 0.7906 0.6522 1 T 0.000 P -0.962 T 0.001 T 0.002 T ID=CM102490;DIS=Delayed memory recall, association with;TAG=DP;PUB=18538895 DP Pathogenic 6_3010459_C->T 6 3010459 3010459 C T snp 826.77 0/1 99 67 31 36 0.54 intronic rs2475208 NQO2 AD NM_000904 exon3 c.3637+36C>T 0.536542 0.5327 0.517300 0.5054 0.5165 Uncertain 6_3015489_C->T 6 3015489 3015489 C T snp 158.77 0/1 94 9 3 6 0.67 intronic rs4149366 NQO2 AD NM_000904 exon5 c.8977-274C>T 0.175719 0.1587 Uncertain 6_3015790_A->G 6 3015790 3015790 A G snp 1946.77 0/1 99 178 96 82 0.46 exonic rs1049115 NQO2 AD synonymous SNV NM_000904 exon5 c.A330G p.P110P 0.757388 0.6538 0.779563 0.7283 0.6536 Uncertain 6_3015865_C->T 6 3015865 3015865 C T snp 2593.77 0/1 99 247 134 113 0.46 exonic rs4149367 NQO2 AD synonymous SNV NM_000904 exon5 c.C405T p.S135S 0.179313 0.1567 0.150161 0.1148 0.1725 Uncertain 6_3015898_A->T 6 3015898 3015898 A T snp 2363.77 0/1 99 231 126 105 0.45 intronic rs4149368 NQO2 AD NM_000904 exon5 c.9091+21A>T 0.179712 0.1587 0.150238 0.1150 0.1742 Uncertain 6_3019654_T->C 6 3019654 3019654 T C snp 1105.77 0/1 99 136 86 50 0.37 intronic rs4149370 NQO2 AD NM_000904 exon7 c.12926-58T>C 0.758387 0.6548 Uncertain 6_3077141_T->C 6 3077141 3077141 T C snp 707.77 0/1 99 58 26 32 0.55 exonic rs2272990 RIPK1 AU synonymous SNV NM_003804 exon1 c.T84C p.F28F 0.848842 0.7262 0.914809 0.9148 0.7278 Uncertain 6_3078266_C->A 6 3078266 3078266 C A snp 77.77 0/1 69 5 2 3 0.6 intronic rs6907943 RIPK1 AU NM_003804 exon2 c.1112+97C>A 0.822484 0.6806 Uncertain 6_3105557_A->C 6 3105557 3105557 A C snp 135.03 1/1 12 4 0 4 1.0 intronic rs75585522 RIPK1 AU NM_003804 exon8 c.28658-158A>C 0.014377 0.0585 Uncertain 6_3118947_A->G 6 3118947 3118947 A G snp 2853.77 1/1 99 105 0 105 1.0 UTR5 rs2231355 BPHL AU 0.979633 1 0.9646 0.9947 Uncertain 6_3118952_C->T 6 3118952 3118952 C T snp 1233.77 0/1 99 108 49 59 0.55 UTR5 rs2231356 BPHL AU 0.0656949 0.0655 0.0490 0.0987 Uncertain 6_3118998_G->T 6 3118998 3118998 G T snp 1238.77 0/1 99 122 59 63 0.52 exonic rs2231357 BPHL AU synonymous SNV NM_004332 exon1 c.G24T p.R8R 0.0662939 0.0665 0.0586 0.1167 Uncertain 6_3127433_-->G 6 3127433 3127433 - G indel 1206.73 0/1 99 65 31 34 0.52 intronic rs113259530 BPHL AU NM_001302777 exon4 c.7785-42insG 0.0750799 0.0655 0.051438 0.0337 0.0727 Uncertain 6_3138194_T->C 6 3138194 3138194 T C snp 736.77 0/1 99 49 17 32 0.65 intronic rs1534998 BPHL AU NM_001302777 exon6 c.18037+467T>C 0.713858 0.5933 Uncertain 6_3157782_G->A 6 3157782 3157782 G A snp 267.77 0/1 99 28 14 14 0.5 UTR5 rs3734491 TUBB2A AD 0.0279553 0.0724 Uncertain 6_3227037_G->A 6 3227037 3227037 G A snp 1843.77 0/1 99 148 69 79 0.53 intronic rs73349465 TUBB2B AD NM_178012 exon3 c.1919+134G>A 0.158347 0.0337 Uncertain 6_3232461_GGGC->- 6 3232461 3232464 GGGC - indel 2296.73 0/1 99 89 40 49 0.55 intergenic rs10597566 TUBB2B AD 0.10024 0.0337 Uncertain 6_3255159_C->T 6 3255159 3255159 C T snp 173.77 0/1 99 14 7 7 0.5 intergenic rs79292108 TUBB2B AD 0.0157748 0.0337 Uncertain 6_3255163_C->T 6 3255163 3255163 C T snp 554.77 1/1 42 15 0 15 1.0 intergenic rs11242830 TUBB2B AD 0.620807 0.6885 Uncertain 6_3255327_G->A 6 3255327 3255327 G A snp 4457.77 1/1 99 170 0 170 1.0 intergenic rs9503497 TUBB2B AD 0.684704 0.6915 0.7528 0.698 1 T 0.0 P Uncertain 6_3255340_A->C 6 3255340 3255340 A C snp 4478.77 1/1 99 168 0 168 1.0 intergenic rs9503498 TUBB2B AD 0.683307 0.6925 0.7525 0.7045 0 D 0.0 P -1.035 T Uncertain 6_3259463_G->T 6 3259463 3259463 G T snp 1348.77 1/1 99 43 0 43 1.0 intronic rs9501962 PSMG4 AU NM_001135750 exon1 c.174+33G>T 0.63139 0.6617 0.7347 0.7857 Uncertain 6_3263830_C->T 6 3263830 3263830 C T snp 787.77 1/1 60 28 0 28 1.0 intronic rs12193912 PSMG4 AU NM_001135750 exon2 c.4661-87C>T 0.616613 0.6637 Uncertain 6_3264101_A->G 6 3264101 3264101 A G snp 2447.77 1/1 99 84 0 84 1.0 intronic rs4959785 PSMG4 AU NM_001135750 exon2 c.4841+4A>G 0.616014 0.6637 0.674113 0.7254 0.6901 Uncertain 6_3264288_A->T 6 3264288 3264288 A T snp 170.9 1/1 15 5 0 5 1.0 intronic rs4959229 PSMG4 AU NM_001128592 exon3 c.5186-154A>T 0.806709 0.6647 Uncertain 6_3264487_T->C 6 3264487 3264487 T C snp 2891.77 1/1 99 108 0 108 1.0 exonic rs4959786 PSMG4 AU nonsynonymous SNV NM_001128592 exon3 c.T295C p.W99R 0.616014 0.6647 0.673675 0.6981 0.6817 0.31 T 0.0 P -0.986 T 0.024 T 0.075 T Pathogenic 6_3264502_G->C 6 3264502 3264502 G C snp 3053.77 1/1 99 116 0 116 1.0 exonic rs4959787 PSMG4 AU nonsynonymous SNV NM_001128592 exon3 c.G310C p.G104R 0.61222 0.6647 0.668857 0.6960 0.6801 0.19 T 0.0 P -0.979 T 0.078 T 0.04 T Pathogenic 6_3264526_C->T 6 3264526 3264526 C T snp 2923.77 1/1 99 111 0 111 1.0 exonic rs4959788 PSMG4 AU nonsynonymous SNV NM_001128592 exon3 c.C334T p.L112F 0.532149 0.5635 0.395751 0.6664 0.5820 0 D 0.0 P -0.997 T 0.0 T 0.0 T Pathogenic 6_3264527_T->C 6 3264527 3264527 T C snp 2958.77 1/1 99 111 0 111 1.0 exonic rs4959789 PSMG4 AU nonsynonymous SNV NM_001128592 exon3 c.T335C p.L112P 0.617212 0.6647 0.6988 0.6817 0 D 0.0 P -1.020 T 0.0 T 0.0 T Pathogenic 6_3264582_G->A 6 3264582 3264582 G A snp 2296.77 1/1 99 86 0 86 1.0 intronic rs11757564 PSMG4 AU NM_001128592 exon3 c.5303+23G>A 0.616214 0.6637 0.673675 0.6903 0.6806 Uncertain 6_3264671_T->C 6 3264671 3264671 T C snp 385.77 1/1 30 10 0 10 1.0 intronic rs13193012 PSMG4 AU NM_001128592 exon3 c.5303+112T>C 0.722444 0.6647 Uncertain 6_3267710_T->C 6 3267710 3267710 T C snp 96.28 1/1 9 3 0 3 1.0 intronic rs9328157 PSMG4 AU NM_001128592 exon4 c.8568-114T>C 0.806909 0.6657 Uncertain 6_3284310_-->TGG 6 3284310 3284310 - TGG indel 440.73 0/1 99 13 5 8 0.62 intronic rs34703291 SLC22A23 AU NM_015482 exon2 c.10921+101insTGG 0.0131789 0.0238 Uncertain 6_3284313_T->A 6 3284313 3284313 T A snp 155.77 0/1 99 11 5 6 0.55 intronic rs35316373 SLC22A23 AU NM_015482 exon2 c.10921+104T>A 0.0131789 0.0238 Uncertain 6_3285286_A->G 6 3285286 3285286 A G snp 2744.77 1/1 99 103 0 103 1.0 intronic rs10793841 SLC22A23 AU NM_015482 exon3 c.12024-26A>G 0.536542 0.5496 0.635015 0.7397 0.5656 Uncertain 6_3287118_T->C 6 3287118 3287118 T C snp 3580.77 1/1 99 131 0 131 1.0 exonic rs6910086 SLC22A23 AU synonymous SNV NM_015482 exon7 c.A1521G p.S507S 0.860823 0.6815 0.947583 0.9034 0.7262 Uncertain 6_3289983_T->C 6 3289983 3289983 T C snp 1327.77 0/1 99 108 50 58 0.54 intronic rs4959230 SLC22A23 AU NM_015482 exon5 c.16709-14T>C 0.381789 0.4563 0.259880 0.2448 0.4498 Uncertain 6_3410247_T->C 6 3410247 3410247 T C snp 407.77 0/1 99 25 13 12 0.48 intronic rs2277076 SLC22A23 AU NM_015482 exon8 c.137133-174T>C 0.375399 0.4216 Uncertain 6_3438738_G->A 6 3438738 3438738 G A snp 4335.77 1/1 99 166 0 166 1.0 intronic rs12197689 SLC22A23 AU NM_021945 exon10 c.159284+6166G>A 0.619409 0.6478 0.7730 0.6212 0.05 T 0.000 P -0.959 T Uncertain 6_3439510_T->C 6 3439510 3439510 T C snp 802.77 1/1 60 28 0 28 1.0 intronic rs9503595 SLC22A23 AU NM_021945 exon11 c.171764-5542T>C 0.763179 0.6865 0.8160 0.7 Uncertain 6_3439595_-->A 6 3439595 3439595 - A indel 1339.73 1/1 99 36 0 36 1.0 intronic rs35613438 SLC22A23 AU NM_021945 exon11 c.171764-5457insA 0.619609 0.6091 0.7190 0.5808 Uncertain 6_3439637_G->A 6 3439637 3439637 G A snp 731.77 1/1 54 26 0 26 1.0 intronic rs9502003 SLC22A23 AU NM_021945 exon11 c.171764-5415G>A 0.749401 0.6895 0.7966 0.6927 Uncertain 6_3728024_A->T 6 3728024 3728024 A T snp 1649.77 1/1 99 51 0 51 1.0 intronic rs7767269 PXDC1 AU NM_183373 exon2 c.4044+128A>T 0.246406 0.2302 Uncertain 6_3738269_C->- 6 3738269 3738269 C - indel 2321.73 1/1 99 58 0 58 1.0 intronic rs3215783 PXDC1 AU NM_183373 exon4 c.14438-21delC 0.350839 0.3899 0.3541 0.4064 Uncertain 6_3739193_T->C 6 3739193 3739193 T C snp 345.78 1/1 27 10 0 10 1.0 intronic rs4959871 PXDC1 AU NM_183373 exon4 c.14530+811T>C 0.382188 0.3958 Uncertain 6_3851193_C->G 6 3851193 3851193 C G snp 41.77 0/1 70 4 2 2 0.5 UTR3 rs6597007 FAM50B AU 0.157748 0.2351 Uncertain 6_4020336_C->T 6 4020336 4020336 C T snp 663.77 0/1 99 33 13 20 0.61 intergenic rs9392546 FAM50B AU 0.503594 0.6042 Uncertain 6_4020356_G->A 6 4020356 4020356 G A snp 1020.77 0/1 99 62 29 33 0.53 intergenic rs9405217 FAM50B AU 0.503594 0.6042 Uncertain 6_4020541_T->- 6 4020541 4020541 T - indel 539.73 0/1 99 112 27 85 0.76 intergenic rs398084716 FAM50B AU 0.410942 0.5933 Uncertain 6_4021396_T->C 6 4021396 4021396 T C snp 40.77 0/1 33 3 1 2 0.67 upstream rs58275491 PRPF4B AU 0.13119 0.1419 Uncertain 6_4021554_A->G 6 4021554 4021554 A G snp 2212.77 1/1 99 88 0 88 1.0 upstream rs11752006 PRPF4B AU 0.998003 1 Uncertain 6_4031998_A->G 6 4031998 4031998 A G snp 2772.77 1/1 99 91 0 91 1.0 exonic rs9503893 PRPF4B AU nonsynonymous SNV NM_003913 exon2 c.A247G p.I83V 0.715455 0.7877 0.694526 0.6956 0.7681 0.69 T 0.0 P -1.045 T 0.0 T 0.0 T Pathogenic 6_4033065_A->G 6 4033065 4033065 A G snp 940.77 1/1 69 31 0 31 1.0 intronic rs6924389 PRPF4B AU NM_003913 exon2 c.11330+76A>G 0.875799 0.7937 Uncertain 6_4037582_C->A 6 4037582 4037582 C A snp 390.77 1/1 30 13 0 13 1.0 intronic rs7763233 PRPF4B AU NM_003913 exon3 c.15971-48C>A 0.71905 0.7887 0.698907 0.6929 0.7501 Uncertain 6_4043899_A->G 6 4043899 4043899 A G snp 54.74 1/1 6 2 0 2 1.0 intronic rs707981 PRPF4B AU NM_003913 exon6 c.22387-147A>G 0.720847 0.7887 Uncertain 6_4044297_G->T 6 4044297 4044297 G T snp 220.84 1/1 18 6 0 6 1.0 intronic rs853396 PRPF4B AU NM_003913 exon6 c.22598+40G>T 0.732428 0.7887 0.702139 0.7098 0.7685 Uncertain 6_4052167_C->A 6 4052167 4052167 C A snp 1221.77 1/1 90 36 1 35 0.97 intronic rs3747761 PRPF4B AU NM_003913 exon10 c.30531-23C>A 0.720647 0.7887 0.704782 0.7055 0.7646 Uncertain 6_4052383_G->A 6 4052383 4052383 G A snp 4050.77 1/1 99 153 1 152 0.99 intronic rs3747762 PRPF4B AU NM_003913 exon10 c.30669+55G>A 0.642173 0.7877 Uncertain 6_4052458_-->T 6 4052458 4052458 - T indel 711.73 1/1 63 28 0 28 1.0 intronic rs3833454 PRPF4B AU NM_003913 exon10 c.30669+130insT 0.720847 0.7887 Uncertain 6_4057200_A->G 6 4057200 4057200 A G snp 56.74 1/1 6 2 0 2 1.0 intronic rs860477 PRPF4B AU NM_003913 exon13 c.35610-69A>G 0.720647 0.7907 Uncertain 6_4057233_C->T 6 4057233 4057233 C T snp 328.78 1/1 27 10 0 10 1.0 intronic rs853407 PRPF4B AU NM_003913 exon13 c.35610-36C>T 0.721246 0.7907 0.702016 0.7043 0.7680 Uncertain 6_4057429_A->G 6 4057429 4057429 A G snp 2383.77 1/1 99 94 0 94 1.0 intronic rs853408 PRPF4B AU NM_003913 exon13 c.35762+8A>G 0.720647 0.7907 0.701676 0.7031 0.7685 Uncertain 6_4057627_G->T 6 4057627 4057627 G T snp 56.74 1/1 6 2 0 2 1.0 intronic rs860478 PRPF4B AU NM_003913 exon13 c.35762+206G>T 0.720847 0.7897 Uncertain 6_4058782_C->T 6 4058782 4058782 C T snp 119.77 0/1 87 7 3 4 0.57 intronic rs12198921 PRPF4B AU NM_003913 exon14 c.37302-179C>T 0.430112 0.6339 Uncertain 6_4069166_C->T 6 4069166 4069166 C T snp 3011.77 0/1 99 250 127 123 0.49 exonic rs595413 FAM217A AU nonsynonymous SNV NM_173563 exon7 c.G1291A p.V431I 0.545927 0.6458 0.562125 0.6793 0.6245 0.23 T 0.000 P -0.992 T 0.319 T 0.069 T Pathogenic 6_4069685_C->T 6 4069685 4069685 C T snp 1582.77 0/1 99 162 92 70 0.43 exonic rs639905 FAM217A AU nonsynonymous SNV NM_173563 exon7 c.G772A p.A258T 0.296725 0.3542 0.249346 0.2219 0.3751 1 T 0.0 P -0.977 T 0.0 T 0.001 T Pathogenic 6_4077535_G->C 6 4077535 4077535 G C snp 1015.77 0/1 99 87 48 39 0.45 intronic rs666254 FAM217A AU NM_173563 exon6 c.8659-53G>C 0.327077 0.3581 0.285151 Uncertain 6_4079858_C->G 6 4079858 4079858 C G snp 905.77 0/1 99 87 41 46 0.53 UTR5 rs589494 C6orf201 AU 0.33127 0.3671 0.1910 0.3980 0 D 0.000 P -0.977 T Uncertain 6_4079875_T->C 6 4079875 4079875 T C snp 1023.77 0/1 99 101 50 51 0.5 UTR5 rs665728 C6orf201 AU 0.485823 0.3681 0.3433 0.3980 0 D 0.0 P -1.041 T Uncertain 6_4087934_G->C 6 4087934 4087934 G C snp 1238.77 0/1 99 145 86 59 0.41 exonic rs619483 C6orf201 AU nonsynonymous SNV NM_001085401 exon2 c.G59C p.R20P 0.269169 0.3591 0.221827 0.2086 0.3811 0.1 T 0.0 P -0.946 T 0.003 T 0.001 T Pathogenic 6_4115758_C->T 6 4115758 4115758 C T snp 2575.77 0/1 99 193 89 104 0.54 intronic rs617790 C6orf201 AU NM_001085401 exon4 c.34307-6424C>T 0.322484 0.3581 0.2661 0.3564 0.35 T 0.000 P -1.052 T Uncertain 6_4116262_G->A 6 4116262 4116262 G A snp 1600.77 0/1 99 171 97 74 0.43 exonic rs7166 ECI2 AU nonsynonymous SNV NM_001166010 exon10 c.C941T p.A314V 0.308107 0.3581 0.297555 0.3020 0.3743 0.1 T 0.041 P -1.057 T 0.01 T 0.011 T Pathogenic 6_4116340_T->G 6 4116340 4116340 T G snp 313.77 0/1 99 26 15 11 0.42 intronic rs660957 C6orf201 AU NM_001085401 exon4 c.34307-5842T>G 0.128994 0.3393 Uncertain 6_4119516_A->G 6 4119516 4119516 A G snp 959.77 0/1 99 95 54 41 0.43 intronic rs2326408 C6orf201 AU NM_001085401 exon4 c.34307-2666A>G 0.494609 0.3591 0.526296 0.4121 0.3774 Uncertain 6_4119554_TT->- 6 4119554 4119555 TT - indel 175.73 0/1 99 47 14 33 0.7 intronic rs34320283 C6orf201 AU NM_001085401 exon4 c.34307-2628_34307-2627delTT 0.261382 0.2341 0.2911 0.2953 Uncertain 6_4122249_C->A 6 4122249 4122249 C A snp 2200.77 0/1 99 172 70 102 0.59 exonic rs643232 C6orf201 AU nonsynonymous SNV NM_001085401 exon4 c.C351A p.N117K 0.321486 0.3591 0.309891 0.3225 0.3868 0.97 T 0.0 P -1.063 T 0.0 T 0.0 T Pathogenic 6_4125474_G->A 6 4125474 4125474 G A snp 305.77 0/1 99 26 13 13 0.5 intronic rs11751668 C6orf201 AU NM_001085401 exon4 c.34405+3194G>A 0.0888578 0.2679 0.036829 0.0640 0.2785 Uncertain 6_4125655_A->G 6 4125655 4125655 A G snp 1533.77 0/1 99 160 90 70 0.44 intronic rs659305 C6orf201 AU NM_001085401 exon4 c.34405+3375A>G 0.310304 0.3581 0.299477 0.2991 0.3757 Uncertain 6_4125941_A->G 6 4125941 4125941 A G snp 500.77 0/1 99 28 9 19 0.68 intronic rs660560 C6orf201 AU NM_001085401 exon4 c.34405+3661A>G 0.326478 0.3591 Uncertain 6_4126097_G->A 6 4126097 4126097 G A snp 1878.77 0/1 99 162 88 74 0.46 intronic rs661404 C6orf201 AU NM_001085401 exon4 c.34405+3817G>A 0.495008 0.3591 0.3660 0.3571 Uncertain 6_4135342_C->T 6 4135342 4135342 C T snp 871.77 0/1 99 85 48 37 0.44 intronic rs3804317 ECI2 AU NM_001166010 exon10 c.19496-261C>T 0.102236 0.2688 0.0904 0.25 Uncertain 6_4715940_G->C 6 4715940 4715940 G C snp 973.77 0/1 99 86 41 45 0.52 intergenic rs3812181 KU-MEL-3 AU 0.0105831 0.0169 Uncertain 6_4773289_G->A 6 4773289 4773289 G A snp 1345.77 0/1 99 116 61 55 0.47 intergenic rs6927577 KU-MEL-3 AU 0.250799 0.1091 Uncertain 6_4773330_A->T 6 4773330 4773330 A T snp 1951.77 0/1 99 167 83 84 0.5 intergenic rs6908435 KU-MEL-3 AU 0.257987 0.1091 Uncertain 6_4777010_C->T 6 4777010 4777010 C T snp 621.78 0/1 27 26 6 20 0.77 UTR5 rs189012947 CDYL AU 0.0023 0.0288 Uncertain 6_4777049_C->G 6 4777049 4777049 C G snp 32.77 0/1 61 10 6 4 0.4 intronic CDYL AU NM_004824 exon1 c.24+8C>G Uncertain 6_4936074_T->G 6 4936074 4936074 T G snp 1217.77 1/1 87 40 0 40 1.0 intronic rs1539004 CDYL AU NM_001143971 exon3 c.43687+69T>G 0.956869 1 Uncertain 6_4937728_-->A 6 4937728 4937728 - A indel 247.73 0/1 99 29 15 14 0.48 intronic rs36001374 CDYL AU NM_001143971 exon4 c.45480-70insA Uncertain 6_4937742_-->T 6 4937742 4937742 - T indel 721.73 0/1 99 55 30 25 0.45 intronic rs397820164 CDYL AU NM_001143971 exon4 c.45480-56insT Uncertain 6_4937747_A->G 6 4937747 4937747 A G snp 715.77 0/1 99 64 35 29 0.45 intronic rs56133250 CDYL AU NM_001143971 exon4 c.45480-51A>G 0.635184 0.7302 Uncertain 6_4944004_-->A 6 4944004 4944004 - A indel 32.73 0/1 70 23 8 15 0.65 intronic rs200106765 CDYL AU NM_001143971 exon5 c.51672+14insA 0.263778 0.3601 0.3715 0.4001 Uncertain 6_4952413_T->C 6 4952413 4952413 T C snp 1181.77 1/1 87 41 0 41 1.0 intronic rs2793263 CDYL AU NM_001143971 exon6 c.60181-86T>C 0.950879 1 Uncertain 6_4998963_A->G 6 4998963 4998963 A G snp 413.77 0/1 99 33 17 16 0.48 exonic rs1749144 RPP40 AU synonymous SNV NM_001286132 exon4 c.T477C p.A159A 0.342252 0.1677 0.336402 0.3242 0.1691 Uncertain 6_4999193_A->G 6 4999193 4999193 A G snp 121.77 0/1 99 8 3 5 0.63 intronic rs396839 RPP40 AU NM_006638 exon4 c.3764+118A>G 0.530751 0.8214 Uncertain 6_4999910_C->T 6 4999910 4999910 C T snp 139.03 1/1 12 5 0 5 1.0 intronic rs1749145 RPP40 AU NM_006638 exon5 c.4731-132C>T 0.221845 0.122 Uncertain 6_5000027_C->T 6 5000027 5000027 C T snp 676.77 0/1 99 65 34 31 0.48 intronic rs439795 RPP40 AU NM_006638 exon5 c.4731-15C>T 0.223642 0.122 0.239729 0.2149 0.1209 Uncertain 6_5000350_T->C 6 5000350 5000350 T C snp 90.28 1/1 9 3 0 3 1.0 intronic rs2764107 RPP40 AU NM_006638 exon5 c.4827+212T>C 0.924521 0.9891 Uncertain 6_5000779_G->A 6 5000779 5000779 G A snp 419.77 0/1 99 30 12 18 0.6 intronic rs7744457 RPP40 AU NM_006638 exon6 c.5485-17G>A 0.353235 0.1687 0.342356 0.3007 0.1556 Uncertain 6_5001341_C->T 6 5001341 5001341 C T snp 1704.77 0/1 99 177 103 74 0.42 intronic rs1749158 RPP40 AU NM_006638 exon6 c.5554+476C>T 0.308706 0.1677 0.3039 0.1263 Uncertain 6_5001577_G->C 6 5001577 5001577 G C snp 670.77 1/1 51 18 0 18 1.0 intronic rs912711 RPP40 AU NM_006638 exon6 c.5554+712G>C 0.924521 0.9891 Uncertain 6_5001604_A->G 6 5001604 5001604 A G snp 130.03 1/1 12 4 0 4 1.0 intronic rs912710 RPP40 AU NM_006638 exon7 c.7023-730A>G 0.924521 0.9891 Uncertain 6_5002145_A->G 6 5002145 5002145 A G snp 206.77 0/1 99 17 9 8 0.47 intronic rs1617590 RPP40 AU NM_006638 exon7 c.7023-189A>G 0.529553 0.8264 Uncertain 6_5003952_T->C 6 5003952 5003952 T C snp 2049.77 1/1 99 53 0 53 1.0 intronic rs4960056 RPP40 AU NM_006638 exon8 c.8802-161T>C 0.924121 0.9891 Uncertain 6_5003981_C->T 6 5003981 5003981 C T snp 1214.77 0/1 99 108 60 48 0.44 intronic rs3762008 RPP40 AU NM_006638 exon8 c.8802-132C>T 0.213259 0.121 Uncertain 6_5086070_A->G 6 5086070 5086070 A G snp 1421.77 1/1 99 46 0 46 1.0 exonic rs667752 PPP1R3G AU synonymous SNV NM_001145115 exon1 c.A351G p.A117A 1 1 1 1 Uncertain 6_5086211_G->C 6 5086211 5086211 G C snp 3974.77 1/1 99 157 0 157 1.0 exonic rs584962 PPP1R3G AU synonymous SNV NM_001145115 exon1 c.G492C p.L164L 1 1 1 1 Uncertain 6_5086558_C->A 6 5086558 5086558 C A snp 1244.77 0/1 99 132 76 56 0.42 exonic rs436556 PPP1R3G AU nonsynonymous SNV NM_001145115 exon1 c.C839A p.P280Q 0.799321 0.8998 0.779044 0.8463 0.9094 0.3 T 0.0 P -1.030 T 0.009 T 0.034 T Pathogenic 6_5109592_T->G 6 5109592 5109592 T G snp 1027.77 1/1 75 31 0 31 1.0 ncRNA_intronic rs9606 LOC100129461 AU 0.446086 0.7956 0.410425 Uncertain 6_5109945_C->T 6 5109945 5109945 C T snp 54.74 1/1 6 2 0 2 1.0 ncRNA_intronic rs434706 LOC100129461 AU 0.932308 0.9276 Uncertain 6_5138810_T->- 6 5138810 5138810 T - indel 333.73 1/1 33 11 0 11 1.0 ncRNA_intronic rs11301112 LOC100129461 AU 0.847644 0.9226 Uncertain 6_5139012_C->A 6 5139012 5139012 C A snp 759.77 1/1 54 30 0 30 1.0 ncRNA_intronic rs463054 LOC100129461 AU 1 1 1 1 Uncertain 6_5144189_T->C 6 5144189 5144189 T C snp 56.74 1/1 6 2 0 2 1.0 ncRNA_intronic rs445204 LOC100129461 AU 0.459265 0.7907 Uncertain 6_5144192_C->T 6 5144192 5144192 C T snp 56.74 1/1 6 2 0 2 1.0 ncRNA_intronic rs399120 LOC100129461 AU 0.822684 0.9127 Uncertain 6_5148707_A->G 6 5148707 5148707 A G snp 679.77 1/1 51 20 0 20 1.0 ncRNA_intronic rs9504352 LOC100129461 AU 0.499002 0.4831 Uncertain 6_5148711_G->C 6 5148711 5148711 G C snp 626.77 1/1 48 17 0 17 1.0 ncRNA_intronic rs9504353 LOC100129461 AU 0.499002 0.4831 Uncertain 6_5148719_T->C 6 5148719 5148719 T C snp 535.77 1/1 42 15 0 15 1.0 ncRNA_intronic rs200871 LOC100129461 AU Uncertain 6_5148729_T->A 6 5148729 5148729 T A snp 463.77 1/1 36 12 0 12 1.0 ncRNA_intronic rs200872 LOC100129461 AU 0.498003 0.4831 Uncertain 6_5217010_C->T 6 5217010 5217010 C T snp 824.77 0/1 99 65 33 32 0.49 ncRNA_intronic rs41302851 LOC100129461 AU 0.323882 0.4613 0.302091 0.3839 0.4536 Uncertain 6_5260936_A->C 6 5260936 5260936 A C snp 394.77 0/1 99 38 17 21 0.55 exonic rs2224391 LYRM4 AR nonsynonymous SNV NM_020408 exon1 c.T31G p.S11A 0.402955 0.256 0.414261 0.3577 0.4089 0.35 T 0.000 P -1.046 T 0.052 T 0.082 T ID=CM1212003;DIS=Cognitive deficit in schizophrenia, association with;TAG=DP;PUB=21968932 DP Pathogenic 6_5404958_C->T 6 5404958 5404958 C T snp 287.77 0/1 99 31 18 13 0.42 intronic rs7759327 FARS2 AR NM_006567 exon3 c.36131+24C>T 0.0950479 0.1091 0.077503 0.0796 0.1060 Uncertain 6_5431340_A->G 6 5431340 5431340 A G snp 2903.77 0/1 99 248 122 126 0.51 exonic rs11243011 FARS2 AR nonsynonymous SNV NM_006567 exon4 c.A839G p.N280S 0.235224 0.4772 0.152161 0.2188 0.4678 0.5 T 0.521 P -1.069 T 0.001 T 0.001 T CLINSIG=non-pathogenic;CLNDBN=not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000124983.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 ID=CM1212006;DIS=Cognitive deficit in schizophrenia, association with;TAG=DP;PUB=21968932 DP Pathogenic 6_5545654_C->T 6 5545654 5545654 C T snp 1192.77 1/1 90 35 0 35 1.0 intronic rs7749599 FARS2 AR NM_006567 exon5 c.176770+81C>T 0.909744 0.9821 Uncertain 6_6003513_A->C 6 6003513 6003513 A C snp 4345.77 1/1 99 143 1 142 0.99 intronic rs3792947 NRN1 AU NM_001278711 exon3 c.4298+7A>C 0.726438 0.7242 Uncertain 6_6003821_GGA->- 6 6003821 6003823 GGA - indel 388.73 0/1 99 16 7 9 0.56 intronic rs3838670 NRN1 AU NM_001278711 exon4 c.4727-114_4727-112delGGA 0.307109 0.4802 Uncertain 6_6003985_C->T 6 6003985 6003985 C T snp 705.77 0/1 99 72 40 32 0.44 intronic rs3805789 NRN1 AU NM_001278711 exon4 c.4727+50C>T 0.300319 0.4812 Uncertain 6_6167621_G->A 6 6167621 6167621 G A snp 1287.77 1/1 93 44 0 44 1.0 intronic rs435048 F13A1 AR,AD,AU NM_000129 exon3 c.21839-69G>A 0.971446 0.9494 Uncertain 6_6169773_-->T 6 6169773 6169773 - T indel 1414.73 1/1 99 35 0 35 1.0 intronic rs201657556 F13A1 AR,AD,AU NM_000129 exon3 c.22000+1922insT 0.0105831 0.0516 Uncertain 6_6174786_G->C 6 6174786 6174786 G C snp 938.77 1/1 69 24 0 24 1.0 intronic rs380058 F13A1 AR,AD,AU NM_000129 exon4 c.28961-26G>C 0.970847 0.9454 0.998847 0.9763 0.9435 Uncertain 6_6174866_G->A 6 6174866 6174866 G A snp 2845.77 1/1 99 105 0 105 1.0 exonic rs5982 F13A1 AR,AD,AU nonsynonymous SNV NM_000129 exon12 c.C1694T p.P565L 0.240415 0.3581 0.192527 0.2160 0.3199 0.74 T 0.0 P -1.081 T 0.003 T 0.002 T ID=CM995295;DIS=Increased factor XIII specific activity;TAG=DFP;PUB=9920838 DFP Pathogenic 6_6305458_G->C 6 6305458 6305458 G C snp 309.77 0/1 99 35 22 13 0.37 intronic rs7745910 F13A1 AR,AD,AU NM_000129 exon13 c.159732-125G>C 0.199281 0.1587 Uncertain 6_6305477_C->A 6 6305477 6305477 C A snp 1430.77 1/1 99 46 0 46 1.0 intronic rs2295753 F13A1 AR,AD,AU NM_000129 exon13 c.159732-106C>A 0.304712 0.3323 Uncertain 6_6318781_G->A 6 6318781 6318781 G A snp 421.77 0/1 99 33 13 20 0.61 exonic rs181003679 F13A1 AR,AD,AU synonymous SNV NM_000129 exon2 c.C117T p.G39G 0.000199681 6.595e-05 0.0006 0.999 D -0.916 T Likely benign 6_6318921_-->A 6 6318921 6318921 - A indel 312.73 1/1 39 33 1 32 0.97 splicing rs11414870 F13A1 AR,AD,AU NM_000129 exon14 c.173064+6insA 0.385184 0.4663 0.4170 0.4251 Pathogenic 6_6320808_T->G 6 6320808 6320808 T G snp 2095.77 0/1 99 190 101 89 0.47 intronic rs2815822 F13A1 AR,AD,AU NM_000129 exon15 c.174968-11T>G 0.881989 0.9474 0.8501 0.9461 CLINSIG=pathogenic;CLNDBN=Factor_xiii\x2c_a_subunit\x2c_deficiency_of;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000022542.26;CLNDSDB=MedGen:OMIM:Orphanet;CLNDSDBID=C2750514:613225:ORPHA331 Uncertain 6_6321128_T->C 6 6321128 6321128 T C snp 2029.77 1/1 99 76 0 76 1.0 upstream rs1024231 F13A1 AR,AD,AU 0.710863 0.6528 0.7014 0.6799 0 D 0.000 P -0.991 T Uncertain 6_6588881_A->C 6 6588881 6588881 A C snp 677.77 1/1 51 25 0 25 1.0 ncRNA_intronic rs977785 LY86-AS1 AU 0.697883 0.6736 Uncertain 6_6589192_-->GA 6 6589192 6589192 - GA indel 752.73 1/1 48 16 0 16 1.0 ncRNA_intronic rs112924538 LY86-AS1 AU 0.694489 0.6736 Uncertain 6_6625418_T->C 6 6625418 6625418 T C snp 839.77 1/1 63 22 0 22 1.0 intronic rs2233124 LY86 AU NM_004271 exon2 c.36278+173T>C 0.302316 0.1468 Uncertain 6_6649796_G->A 6 6649796 6649796 G A snp 256.77 0/1 99 33 21 12 0.36 intronic rs4960227 LY86 AU NM_004271 exon4 c.60890-61G>A 0.103235 0.2788 0.014925 Uncertain 6_6649974_-->AGG 6 6649974 6649974 - AGG indel 617.73 0/1 99 23 8 15 0.65 intronic rs3062400 LY86 AU NM_004271 exon4 c.60943+64insAGG 0.782348 0.6944 0.766939 Uncertain 6_7181993_T->C 6 7181993 7181993 T C snp 254.77 0/1 99 16 7 9 0.56 intronic rs9392862 RREB1 AU 0.192692 0.2292 Uncertain 6_7211751_G->A 6 7211751 7211751 G A snp 829.77 0/1 99 54 22 32 0.59 intronic rs1334577 RREB1 AU NM_001168344 exon8 c.29661-54G>A 0.339257 0.496 Uncertain 6_7211818_G->A 6 7211818 7211818 G A snp 1920.77 0/1 99 130 50 80 0.62 exonic rs1334576 RREB1 AU nonsynonymous SNV NM_001003699 exon8 c.G583A p.G195R 0.457668 0.5327 0.378748 0.4469 0.5401 0.38 T 0.0 P -1.018 T 0.998 D 0.859 D Pathogenic 6_7212084_C->T 6 7212084 7212084 C T snp 99.28 1/1 9 3 0 3 1.0 intronic rs4960297 RREB1 AU NM_001168344 exon8 c.29798+142C>T 0.635583 0.7857 Uncertain 6_7226959_C->T 6 7226959 7226959 C T snp 644.77 0/1 99 32 11 21 0.66 intronic rs9505085 RREB1 AU NM_001168344 exon9 c.44745+70C>T 0.159345 0.2173 Uncertain 6_7229346_T->C 6 7229346 7229346 T C snp 1454.77 0/1 99 102 40 62 0.61 exonic rs2714315 RREB1 AU synonymous SNV NM_001003699 exon10 c.T1014C p.H338H 0.408147 0.2718 0.437490 0.3274 0.2562 Uncertain 6_7230680_G->T 6 7230680 7230680 G T snp 7817.77 1/1 99 250 0 250 1.0 exonic rs9502564 RREB1 AU nonsynonymous SNV NM_001003699 exon10 c.G2348T p.G783V 0.534744 0.7411 0.371646 0.4434 0.7419 0.6 T 0.999 P -0.926 T 0.379 T 0.197 T Pathogenic 6_7231843_G->A 6 7231843 7231843 G A snp 1295.77 0/1 99 107 51 56 0.52 exonic rs9379084 RREB1 AU nonsynonymous SNV NM_001003699 exon10 c.G3511A p.D1171N 0.096246 0.1587 0.080432 0.1065 0.1358 0.49 T 1.000 P -1.139 T 0.998 D 0.933 D Pathogenic 6_7247248_T->C 6 7247248 7247248 T C snp 2488.77 1/1 99 84 0 84 1.0 exonic rs2256596 RREB1 AU nonsynonymous SNV NM_001003699 exon12 c.T4565C p.L1522P 0.782149 0.7937 0.733598 0.7100 0.7757 0.29 T 0.939 P -0.918 T 0.0 T 0.0 T Pathogenic 6_7249246_G->A 6 7249246 7249246 G A snp 93.28 1/1 9 3 0 3 1.0 UTR3 RREB1 AU Uncertain 6_7289958_CA->- 6 7289958 7289959 CA - indel 3700.73 1/1 99 74 0 74 1.0 UTR3 rs16740 SSR1 AU 0.375998 0.4048 Uncertain 6_7290282_C->T 6 7290282 7290282 C T snp 679.77 1/1 51 19 0 19 1.0 intronic rs9505117 SSR1 AU NM_001292008 exon1 c.68+118C>T 0.375799 0.4048 Uncertain 6_7295283_T->A 6 7295283 7295283 T A snp 1095.77 1/1 78 45 0 45 1.0 intronic rs7764613 SSR1 AU NM_001292008 exon2 c.5528-341T>A 0.376198 0.4058 0.4157 0.4192 Uncertain 6_7295605_A->G 6 7295605 7295605 A G snp 1805.77 1/1 99 67 0 67 1.0 intronic rs9502587 SSR1 AU NM_001292008 exon2 c.5528-19A>G 0.376597 0.4058 0.369231 0.4159 0.4351 Uncertain 6_7295755_G->A 6 7295755 7295755 G A snp 1380.77 1/1 99 45 0 45 1.0 intronic rs2714361 SSR1 AU NM_001292008 exon2 c.5622+37G>A 0.824481 0.8085 0.796077 0.7721 0.7806 Uncertain 6_7298287_G->A 6 7298287 7298287 G A snp 1044.77 1/1 78 33 0 33 1.0 intronic rs2714309 SSR1 AU NM_001292008 exon3 c.8138+53G>A 0.403355 0.4593 0.322383 Uncertain 6_7303735_C->T 6 7303735 7303735 C T snp 229.84 1/1 18 8 0 8 1.0 intronic rs9505131 SSR1 AU NM_001292008 exon6 c.13686-47C>T 0.482428 0.5565 0.469702 0.4679 0.5503 Uncertain 6_7313406_C->G 6 7313406 7313406 C G snp 2211.77 0/1 99 186 91 95 0.51 UTR5 rs2274210 SSR1 AU 0.159145 0.2976 0.074682 Uncertain 6_7329417_C->T 6 7329417 7329417 C T snp 283.77 0/1 99 30 17 13 0.43 exonic rs62387870 CAGE1 AU nonsynonymous SNV NM_001170693 exon13 c.G2456A p.R819Q 0.118011 0.122 0.3333 0.25 0 D 0.0 P -1.089 T 0.893 T 0.417 P Pathogenic 6_7330133_AGAA->- 6 7330133 7330136 AGAA - indel 769.73 0/1 99 25 11 14 0.56 intronic rs749051705 CAGE1 AU NM_001170693 exon2 c.724+12_724+15delAGAA 0 0 Uncertain 6_7330169_T->C 6 7330169 7330169 T C snp 233.77 0/1 99 20 10 10 0.5 intronic rs9379089 CAGE1 AU NM_001170693 exon2 c.724+48T>C 0.119409 0.2133 0.062881 0.0895 0.2144 Uncertain 6_7330194_-->G 6 7330194 7330194 - G indel 147.73 0/1 99 14 9 5 0.36 intronic rs11381590 CAGE1 AU NM_001170693 exon2 c.724+73insG 0.257788 0.1071 0.367341 Uncertain 6_7368917_A->G 6 7368917 7368917 A G snp 160.78 0/1 24 6 1 5 0.83 splicing rs1324502 CAGE1 AU NM_001170693 exon7 c.39523-3A>G 0.570687 0.5506 0.556423 0.4668 0.5938 Pathogenic 6_7370058_T->C 6 7370058 7370058 T C snp 104.77 0/1 99 7 3 4 0.57 intronic rs9406025 CAGE1 AU NM_001170693 exon8 c.40754-93T>C 0.179513 0.3026 Uncertain 6_7373249_T->C 6 7373249 7373249 T C snp 370.77 0/1 99 15 4 11 0.73 intronic rs11243160 CAGE1 AU NM_001170693 exon9 c.43908-56T>C 0.457268 0.4405 Uncertain 6_7385892_TT->- 6 7385892 7385893 TT - indel 504.73 0/1 99 22 9 13 0.59 intronic rs147220799 CAGE1 AU NM_001170693 exon11 c.56620-125_56620-124delTT 0.371006 0.4504 Uncertain 6_7387236_G->A 6 7387236 7387236 G A snp 1039.77 0/1 99 111 64 47 0.42 exonic rs9406026 CAGE1 AU synonymous SNV NM_001170692 exon2 c.C171T p.T57T 0.373602 0.4504 0.3458 0.4601 Uncertain 6_7390369_T->C 6 7390369 7390369 T C snp 4975.77 1/1 99 188 0 188 1.0 intronic rs2296358 RIOK1 AU NM_031480 exon1 c.71+63T>C 0.875599 0.9058 Uncertain 6_7393452_C->T 6 7393452 7393452 C T snp 1298.77 0/1 99 113 53 60 0.53 exonic rs2274212 RIOK1 AU synonymous SNV NM_031480 exon2 c.C192T p.D64D 0.460663 0.4554 0.473089 0.5224 0.4789 Uncertain 6_7395497_G->A 6 7395497 7395497 G A snp 200.77 0/1 99 12 5 7 0.58 intronic rs6899625 RIOK1 AU NM_031480 exon3 c.5141+121G>A 0.491214 0.4544 Uncertain 6_7396836_G->A 6 7396836 7396836 G A snp 192.77 0/1 99 12 5 7 0.58 intronic rs12212766 RIOK1 AU NM_031480 exon4 c.6700-99G>A 0.503994 0.4544 Uncertain 6_7396887_G->A 6 7396887 7396887 G A snp 543.77 0/1 99 34 14 20 0.59 intronic rs12212772 RIOK1 AU NM_031480 exon4 c.6700-48G>A 0.415335 0.4544 0.427439 0.5169 0.4843 Uncertain 6_7397125_-->GTGT 6 7397125 7397125 - GTGT indel 341.77 1/1 21 12 0 12 1.0 intronic rs150425917 RIOK1 AU NM_031480 exon4 c.6770+120insGTGT 0.340455 0.3601 Uncertain 6_7398832_A->G 6 7398832 7398832 A G snp 185.77 0/1 99 18 10 8 0.44 intronic rs2296359 RIOK1 AU NM_031480 exon5 c.8695-98A>G 0.416134 0.4554 Uncertain 6_7414382_T->C 6 7414382 7414382 T C snp 77.77 0/1 99 6 3 3 0.5 intronic rs2245533 RIOK1 AU NM_031480 exon16 c.24235-88T>C 0.415935 0.4554 Uncertain 6_7414657_T->C 6 7414657 7414657 T C snp 944.77 1/1 69 32 0 32 1.0 intronic rs4960314 RIOK1 AU NM_031480 exon16 c.24388+34T>C 0.885783 0.9067 0.880747 0.9244 0.9128 Uncertain 6_7414739_C->T 6 7414739 7414739 C T snp 114.78 0/1 27 5 1 4 0.8 intronic rs2296258 RIOK1 AU NM_031480 exon16 c.24388+116C>T 0.151957 0.3105 Uncertain 6_7558318_T->C 6 7558318 7558318 T C snp 2577.77 0/1 99 201 91 110 0.55 intronic rs10484326 DSP AR,AD,AU NM_004415 exon3 c.16200-30T>C 0.15615 0.0526 0.215977 0.1953 0.0452 CLINSIG=non-pathogenic;CLNDBN=not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000124813.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Uncertain 6_7563983_T->G 6 7563983 7563983 T G snp 3991.77 1/1 99 148 0 148 1.0 exonic rs2806234 DSP AR,AD,AU synonymous SNV NM_004415 exon6 c.T741G p.A247A 1 1 0.998539 0.9991 1 CLINSIG=probable-non-pathogenic,probable-non-pathogenic|non-pathogenic,probable-non-pathogenic;CLNDBN=not_specified,not_specified|not_provided,not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter,criteria_provided\x2c_single_submitter|criteria_provided\x2c_single_submitter,criteria_provided\x2c_single_submitter;CLNACC=RCV000154388.1,RCV000038087.1|RCV000124814.1,RCV000038088.2;CLNDSDB=MedGen,MedGen|MedGen,MedGen;CLNDSDBID=CN169374,CN169374|CN221809,CN169374 Uncertain 6_7565490_-->T 6 7565490 7565490 - T indel 294.73 0/1 99 39 23 16 0.41 intronic rs35266991 DSP AR,AD,AU NM_004415 exon7 c.23443-101insT 0.335064 0.0486 Uncertain 6_7567970_C->T 6 7567970 7567970 C T snp 894.77 0/1 99 74 31 43 0.58 intronic rs2076296 DSP AR,AD,AU NM_004415 exon10 c.25865-43C>T 0.772764 0.8006 0.782177 0.7586 0.8122 Uncertain 6_7571874_G->A 6 7571874 7571874 G A snp 342.77 0/1 99 17 6 11 0.65 intronic rs926411 DSP AR,AD,AU NM_004415 exon14 c.29669+57G>A 0.819688 0.8036 Uncertain 6_7572262_A->G 6 7572262 7572262 A G snp 1326.77 0/1 99 98 45 53 0.54 exonic rs2076304 DSP AR,AD,AU synonymous SNV NM_004415 exon15 c.A2091G p.G697G 0.774361 0.8026 0.785868 0.7614 0.8130 CLINSIG=non-pathogenic,non-pathogenic;CLNDBN=not_specified,not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter,criteria_provided\x2c_single_submitter;CLNACC=RCV000154389.1,RCV000038004.2;CLNDSDB=MedGen,MedGen;CLNDSDBID=CN169374,CN169374 Uncertain 6_7574805_C->T 6 7574805 7574805 C T snp 1210.77 1/1 90 39 0 39 1.0 intronic rs2259208 DSP AR,AD,AU NM_004415 exon17 c.32741-84C>T 0.692492 0.5575 Uncertain 6_7576527_G->A 6 7576527 7576527 G A snp 1573.77 0/1 99 129 61 68 0.53 exonic rs1016835 DSP AR,AD,AU synonymous SNV NM_004415 exon19 c.G2631A p.R877R 0.735423 0.8056 0.748116 0.7718 0.8046 CLINSIG=non-pathogenic,non-pathogenic;CLNDBN=not_specified,not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter,criteria_provided\x2c_single_submitter;CLNACC=RCV000154390.1,RCV000038011.2;CLNDSDB=MedGen,MedGen;CLNDSDBID=CN169374,CN169374 Uncertain 6_7577079_G->A 6 7577079 7577079 G A snp 143.77 0/1 99 12 6 6 0.5 intronic rs2260359 DSP AR,AD,AU NM_004415 exon20 c.35043-112G>A 0.210463 0.0774 Uncertain 6_7577260_C->T 6 7577260 7577260 C T snp 718.77 0/1 99 78 47 31 0.4 exonic rs2064217 DSP AR,AD,AU synonymous SNV NM_004415 exon20 c.C2862T p.C954C 0.27516 0.1915 0.268840 0.2438 0.1953 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000038021.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 6_7577354_C->A 6 7577354 7577354 C A snp 778.77 1/1 57 25 0 25 1.0 intronic rs2064218 DSP AR,AD,AU NM_004415 exon20 c.35127+79C>A 0.69389 0.5556 Uncertain 6_7578819_T->G 6 7578819 7578819 T G snp 591.77 0/1 99 82 50 32 0.39 intronic rs2806229 DSP AR,AD,AU NM_004415 exon22 c.36647+24T>G 0.740016 0.8036 0.753421 0.7732 0.8035 Uncertain 6_7578823_G->A 6 7578823 7578823 G A snp 673.77 0/1 99 77 46 31 0.4 intronic rs2842691 DSP AR,AD,AU NM_004415 exon22 c.36647+28G>A 0.764377 0.8036 0.778333 0.7799 0.8037 Uncertain 6_7579363_A->T 6 7579363 7579363 A T snp 74.77 0/1 99 8 5 3 0.38 intronic rs2806227 DSP AR,AD,AU NM_004415 exon23 c.37359-144A>T 0.705072 0.8036 Uncertain 6_7579393_C->T 6 7579393 7579393 C T snp 214.77 0/1 99 17 10 7 0.41 intronic rs2744379 DSP AR,AD,AU NM_004415 exon23 c.37359-114C>T 0.704473 0.8036 Uncertain 6_7579394_A->G 6 7579394 7579394 A G snp 249.77 0/1 99 19 11 8 0.42 intronic rs2806226 DSP AR,AD,AU NM_004415 exon23 c.37359-113A>G 0.705671 0.8036 Uncertain 6_7579412_A->G 6 7579412 7579412 A G snp 338.77 0/1 99 37 23 14 0.38 intronic rs2806225 DSP AR,AD,AU NM_004415 exon23 c.37359-95A>G 0.705871 0.8036 Uncertain 6_7581636_G->A 6 7581636 7581636 G A snp 1308.77 0/1 99 107 50 57 0.53 exonic rs6929069 DSP AR,AD,AU nonsynonymous SNV NM_004415 exon23 c.G5213A p.R1738Q 0.240415 0.1944 0.194141 0.1724 0.1935 0.35 T 0.000 P -1.093 T 0.003 T 0.001 T CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_multiple_submitters\x2c_no_conflicts;CLNACC=RCV000038061.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 ID=CM150224;DIS=Arrhythmogenic right ventricular cardiomyopathy;TAG=DM?;PUB=25445213 DM? Pathogenic 6_7584617_C->T 6 7584617 7584617 C T snp 1544.77 0/1 99 165 90 75 0.45 exonic rs2076300 DSP AR,AD,AU synonymous SNV NM_004415 exon24 c.C7122T p.T2374T 0.211661 0.0744 0.302245 0.2881 0.0682 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000038083.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 6_7585967_G->C 6 7585967 7585967 G C snp 1685.77 0/1 99 121 54 67 0.55 exonic rs2744380 DSP AR,AD,AU synonymous SNV NM_004415 exon24 c.G8472C p.G2824G 0.709465 0.8046 0.688067 0.7117 0.8066 CLINSIG=non-pathogenic,non-pathogenic;CLNDBN=not_specified,not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter,criteria_provided\x2c_multiple_submitters\x2c_no_conflicts;CLNACC=RCV000154391.1,RCV000038104.2;CLNDSDB=MedGen,MedGen;CLNDSDBID=CN169374,CN169374 Uncertain 6_7590624_C->T 6 7590624 7590624 C T snp 1187.77 0/1 99 110 55 55 0.5 exonic rs2757594 SNRNP48 AU nonsynonymous SNV NM_152551 exon1 c.C134T p.P45L 0.213658 0.0744 0.293376 0.3734 0.1018 0.23 T 0.917 P -1.016 T 0.0 T 0.002 T Pathogenic 6_7590653_A->G 6 7590653 7590653 A G snp 2918.77 1/1 99 112 2 110 0.98 intronic rs2744384 SNRNP48 AU NM_152551 exon1 c.156+7A>G 0.488219 0.2738 0.584953 0.5780 0.3273 Uncertain 6_7590802_G->C 6 7590802 7590802 G C snp 540.77 1/1 42 19 0 19 1.0 intronic rs2744385 SNRNP48 AU NM_152551 exon1 c.156+156G>C 0.490815 0.2738 Uncertain 6_7590807_C->T 6 7590807 7590807 C T snp 166.77 0/1 99 15 8 7 0.47 intronic rs2744386 SNRNP48 AU NM_152551 exon1 c.156+161C>T 0.217652 0.0734 Uncertain 6_7590855_A->G 6 7590855 7590855 A G snp 54.74 1/1 6 2 0 2 1.0 intronic rs2744387 SNRNP48 AU NM_152551 exon1 c.156+209A>G 0.488618 0.2728 Uncertain 6_7595126_G->A 6 7595126 7595126 G A snp 79.77 0/1 99 11 6 5 0.45 intronic rs12664272 SNRNP48 AU NM_152551 exon4 c.4769-133G>A 0.348442 0.4812 Uncertain 6_7601720_C->T 6 7601720 7601720 C T snp 1648.77 0/1 99 138 69 69 0.5 exonic rs3734586 SNRNP48 AU synonymous SNV NM_152551 exon5 c.C558T p.S186S 0.304113 0.4841 0.173612 0.2488 0.4880 Uncertain 6_7605505_T->A 6 7605505 7605505 T A snp 732.77 0/1 99 44 19 25 0.57 intronic rs9505238 SNRNP48 AU NM_152551 exon7 c.15140-125T>A 0.344649 0.4881 Uncertain 6_7606255_G->A 6 7606255 7606255 G A snp 5325.77 1/1 99 200 0 200 1.0 intronic rs2757597 SNRNP48 AU NM_152551 exon8 c.15773-8G>A 0.704273 0.6032 0.705751 0.6616 0.5914 Uncertain 6_7608863_T->A 6 7608863 7608863 T A snp 36.77 0/1 33 3 1 2 0.67 intronic rs1535433 SNRNP48 AU NM_152551 exon9 c.18567-194T>A 0.659345 0.5655 Uncertain 6_7862631_G->C 6 7862631 7862631 G C snp 976.77 0/1 99 105 63 42 0.4 exonic rs17557 BMP6 AU synonymous SNV NM_001718 exon4 c.G1104C p.V368V 0.597644 0.7411 0.482393 0.4637 0.7357 Uncertain 6_7879407_T->C 6 7879407 7879407 T C snp 1117.77 0/1 99 66 23 43 0.65 intronic rs267172 BMP6 AU NM_001718 exon5 c.152195+24T>C 0.647364 0.8313 0.537752 0.5273 0.8309 Uncertain 6_7889088_A->G 6 7889088 7889088 A G snp 1900.77 0/1 99 147 63 84 0.57 ncRNA_intronic rs1225944 BLOC1S5-TXNDC5 AU 0.649161 0.7758 0.525834 0.4883 0.7633 Uncertain 6_7892143_C->G 6 7892143 7892143 C G snp 74.77 0/1 99 9 6 3 0.33 ncRNA_intronic rs1225950 BLOC1S5-TXNDC5 AU 0.633187 0.7758 Uncertain 6_7900028_T->C 6 7900028 7900028 T C snp 389.77 0/1 99 34 21 13 0.38 ncRNA_intronic rs1225954 BLOC1S5-TXNDC5 AU 0.472045 0.6677 Uncertain 6_7986654_A->G 6 7986654 7986654 A G snp 268.28 0/1 9 9 1 8 0.89 ncRNA_exonic rs197128 PIP5K1P1 AU 0.753195 0.8899 Uncertain 6_7986847_G->A 6 7986847 7986847 G A snp 2234.77 0/1 99 218 116 102 0.47 ncRNA_exonic rs197129 PIP5K1P1 AU 0.341454 0.7163 0.3601 0.7054 Uncertain 6_7987883_G->C 6 7987883 7987883 G C snp 3145.77 0/1 99 219 95 124 0.57 ncRNA_exonic rs6597293 PIP5K1P1 AU 0.345248 0.1042 0.3127 0.1230 Uncertain 6_7988189_T->C 6 7988189 7988189 T C snp 1660.77 0/1 99 152 83 69 0.45 ncRNA_exonic rs4959464 PIP5K1P1 AU 0.330671 0.7133 0.3369 0.6986 Uncertain 6_8016089_C->T 6 8016089 8016089 C T snp 2400.77 1/1 99 80 0 80 1.0 ncRNA_intronic rs2057185 BLOC1S5-TXNDC5 AU 0.785543 0.9712 0.732969 0.8054 0.9607 Uncertain 6_8026577_T->C 6 8026577 8026577 T C snp 1195.77 0/1 99 92 43 49 0.53 ncRNA_intronic rs9328452 BLOC1S5-TXNDC5 AU 0.69389 0.9395 0.596648 0.6691 0.9371 Uncertain 6_8054413_T->C 6 8054413 8054413 T C snp 1096.77 0/1 99 96 54 42 0.44 ncRNA_intronic rs2743993 BLOC1S5-TXNDC5 AU 0.70647 0.9256 Uncertain 6_8054562_T->C 6 8054562 8054562 T C snp 2439.77 0/1 99 227 120 107 0.47 ncRNA_intronic rs9505348 BLOC1S5-TXNDC5 AU 0.179912 0.0714 Uncertain 6_8064303_A->G 6 8064303 8064303 A G snp 176.9 1/1 15 5 0 5 1.0 ncRNA_intronic rs2743987 BLOC1S5-TXNDC5 AU 0.498003 0.8155 Uncertain 6_8073859_AG->- 6 8073859 8073860 AG - indel 555.73 1/1 36 13 0 13 1.0 ncRNA_intronic rs67471655 EEF1E1-BLOC1S5 AU 0.432308 0.6657 Uncertain 6_8101975_T->C 6 8101975 8101975 T C snp 1328.77 0/1 99 117 54 63 0.54 ncRNA_intronic rs149393636 EEF1E1-BLOC1S5 AU 0.000599042 0.003 Uncertain 6_8417088_T->C 6 8417088 8417088 T C snp 728.77 0/1 99 60 31 29 0.48 intronic rs746823590 SLC35B3 AU NM_001142541 exon3 c.3335-28T>C 0.0001 0.0017 Uncertain 6_8417521_G->A 6 8417521 8417521 G A snp 164.77 0/1 66 10 4 6 0.6 intronic rs6905235 SLC35B3 AU NM_001142541 exon4 c.3853-113G>A 0.85623 0.8502 Uncertain 6_8419242_G->T 6 8419242 8419242 G T snp 228.77 0/1 99 17 9 8 0.47 intronic rs1360854 SLC35B3 AU NM_001142541 exon5 c.6031-570G>T 0.53754 0.4246 Uncertain 6_8428072_AT->- 6 8428072 8428073 AT - indel 649.73 1/1 39 13 0 13 1.0 intronic rs3831263 SLC35B3 AU NM_001142541 exon8 c.14388-97_14388-96delAT 0.227835 0.3026 Uncertain 6_8428137_-->AGT 6 8428137 8428137 - AGT indel 4354.73 1/1 99 68 0 68 1.0 intronic rs3215958 SLC35B3 AU NM_001142541 exon8 c.14388-32insAGT 0.544329 0.4246 0.514706 0.4754 0.4390 Uncertain 6_8430049_G->A 6 8430049 8430049 G A snp 273.77 0/1 52 12 2 10 0.83 intronic rs6918877 SLC35B3 AU NM_001142541 exon9 c.16315-47G>A 0.538139 0.4246 0.441176 0.5537 0.4767 Uncertain 6_8434491_G->C 6 8434491 8434491 G C snp 234.77 0/1 99 13 5 8 0.62 intronic rs9379195 SLC35B3 AU NM_001142541 exon10 c.20836-126G>C 0.0794728 0.1944 Uncertain 6_8434541_A->C 6 8434541 8434541 A C snp 710.77 0/1 99 50 19 31 0.62 intronic rs78779941 SLC35B3 AU NM_001142541 exon10 c.20836-76A>C 0.0171725 0.0546 Uncertain 6_8435454_T->C 6 8435454 8435454 T C snp 558.77 0/1 99 59 34 25 0.42 UTR5 rs6597317 SLC35B3 AU 0.540735 0.4266 0.4583 0.4470 Uncertain 6_9616231_-->GAAGAAGAAGAG 6 9616231 9616231 - GAAGAAGAAGAG indel 9006.73 1/1 99 89 0 89 1.0 intergenic rs143324041 LOC100506207 AU 0.682109 0.8869 Uncertain 6_9769274_C->T 6 9769274 9769274 C T snp 1632.77 0/1 99 174 103 71 0.41 intergenic rs139742290 LOC100506207 AU 0.00139776 0.0069 0.0010 0.0202 1 N -0.985 T Uncertain 6_9776058_G->A 6 9776058 9776058 G A snp 772.77 0/1 99 69 35 34 0.49 intergenic rs9367875 LOC100506207 AU 0.119808 0.3294 0.0562 0.3081 0.896 P Uncertain 6_9776194_A->G 6 9776194 9776194 A G snp 503.77 0/1 99 38 21 17 0.45 intergenic rs9370818 LOC100506207 AU 0.200679 0.3423 Uncertain 6_9795504_G->A 6 9795504 9795504 G A snp 62.77 0/1 91 15 11 4 0.27 intergenic LOC100506207 AU Uncertain 6_9795507_A->G 6 9795507 9795507 A G snp 108.77 0/1 99 13 9 4 0.31 intergenic rs56001092 LOC100506207 AU Uncertain 6_9795508_GAG->- 6 9795508 9795510 GAG - indel 313.73 0/1 57 13 4 9 0.69 intergenic rs141334431 LOC100506207 AU Uncertain 6_9795580_G->A 6 9795580 9795580 G A snp 187.77 0/1 99 36 24 12 0.33 intergenic rs9396598 LOC100506207 AU Uncertain 6_9795586_G->A 6 9795586 9795586 G A snp 82.77 0/1 99 36 28 8 0.22 intergenic rs9358066 LOC100506207 AU Uncertain 6_9795587_GAAGAAGAA->- 6 9795587 9795595 GAAGAAGAA - indel 1806.73 ./1 99 36 0 36 1.0 intergenic LOC100506207 AU Uncertain 6_9795586_-->GAAGAA 6 9795586 9795586 - GAAGAA indel 1806.73 ./1 99 36 0 36 1.0 intergenic LOC100506207 AU Uncertain 6_9845732_C->T 6 9845732 9845732 C T snp 476.77 0/1 99 51 30 21 0.41 intergenic rs11968445 LOC100506207 AU 0.125599 0.123 0.1326 0.1 Uncertain 6_9922006_A->G 6 9922006 9922006 A G snp 144.03 1/1 12 6 0 6 1.0 intergenic rs1925775 LOC100506207 AU 0.98123 1 Uncertain 6_10159788_T->C 6 10159788 10159788 T C snp 177.77 0/1 99 11 5 6 0.55 intergenic rs79672209 LOC100506207 AU 0.00878594 0.0357 Uncertain 6_10430171_T->C 6 10430171 10430171 T C snp 854.77 0/1 99 73 37 36 0.49 ncRNA_exonic rs303061 LINC00518 AU 0.27476 0.2966 0.233738 0.2612 0.3051 Uncertain 6_10439968_T->C 6 10439968 10439968 T C snp 93.77 0/1 99 18 14 4 0.22 ncRNA_exonic rs9295535 MIR5689 AU 0.233427 0.2986 0 . Uncertain 6_10529087_T->C 6 10529087 10529087 T C snp 623.77 0/1 99 30 12 18 0.6 intergenic rs557441 MIR5689 AU 0.0656949 0.006 Uncertain 6_10556872_C->T 6 10556872 10556872 C T snp 3113.77 0/1 99 250 127 123 0.49 exonic rs2230906 GCNT2 AR,AD synonymous SNV NM_001491 exon1 c.C216T p.C72C 0.0539137 0.0089 0.103952 0.1003 0.0117 Uncertain 6_10587038_C->G 6 10587038 10587038 C G snp 5930.77 1/1 99 213 0 213 1.0 intronic rs539351 GCNT2 AR,AD NM_145655 exon1 c.925-109C>G 0.983027 0.9187 0.999000 0.9924 0.9065 1 T 0.003 P -0.912 T 0.0 T 0.001 T Uncertain 6_10587056_A->G 6 10587056 10587056 A G snp 2721.77 0/1 99 209 96 113 0.54 intronic rs71548508 GCNT2 AR,AD NM_145655 exon1 c.925-91A>G 0.0511182 0.0079 0.109334 0.1080 0.0154 Uncertain 6_10724943_T->C 6 10724943 10724943 T C snp 892.77 0/1 99 51 22 29 0.57 intronic rs4711068 TMEM14C AU NM_016462 exon2 c.20+77T>C 0.485224 0.5278 0.523215 Uncertain 6_10729020_C->T 6 10729020 10729020 C T snp 2258.77 0/1 99 184 92 92 0.5 intronic rs2153073 TMEM14C AU NM_016462 exon5 c.4114+60C>T 0.484625 0.5278 0.6002 0.5404 Uncertain 6_10764727_A->G 6 10764727 10764727 A G snp 2096.77 1/1 99 80 0 80 1.0 exonic rs126405 MAK AR synonymous SNV NM_001242957 exon15 c.T1905C p.H635H 0.865615 0.9167 0.824312 0.8132 0.9245 Uncertain 6_10775446_T->C 6 10775446 10775446 T C snp 1459.77 1/1 99 51 0 51 1.0 intronic rs478791 MAK AR NM_001242385 exon2 c.10876-114T>C 0.848243 0.871 Uncertain 6_10775567_T->A 6 10775567 10775567 T A snp 2273.77 0/1 99 196 100 96 0.49 exonic MAK AR nonsynonymous SNV NM_001242957 exon12 c.A1591T p.N531Y 0.01 T 0.999 D -0.790 T 0.458 P 0.197 P Pathogenic 6_10785011_-->CAGA 6 10785011 10785011 - CAGA indel 11516.7 1/1 99 168 0 168 1.0 intronic rs113945134 MAK AR NM_001242385 exon3 c.20121+206insCAGA 0.85004 0.8413 Uncertain 6_10785228_AAG->- 6 10785228 10785230 AAG - indel 4040.73 1/1 99 85 0 85 1.0 intronic rs34548210 MAK AR NM_001242385 exon3 c.20121+423_20121+425delAAG 0.390775 0.5089 Uncertain 6_10785263_C->G 6 10785263 10785263 C G snp 1391.77 1/1 99 39 0 39 1.0 intronic rs6936890 MAK AR NM_001242385 exon3 c.20121+458C>G 0.872204 0.8512 Uncertain 6_10792197_T->C 6 10792197 10792197 T C snp 1947.77 1/1 99 65 0 65 1.0 intronic rs521802 MAK AR NM_001242385 exon4 c.27396+117T>C 0.792931 0.8452 Uncertain 6_10797868_A->C 6 10797868 10797868 A C snp 284.77 0/1 99 22 13 9 0.41 intronic rs60433793 MAK AR NM_001242385 exon5 c.31858+1326A>C 0.00199681 0.0099 Uncertain 6_10802045_C->G 6 10802045 10802045 C G snp 1364.77 1/1 99 42 0 42 1.0 intronic rs569418 MAK AR NM_001242385 exon6 c.37440-79C>G 0.851637 0.8512 Uncertain 6_10802101_G->A 6 10802101 10802101 G A snp 3241.77 1/1 99 118 0 118 1.0 intronic rs4712966 MAK AR NM_001242385 exon6 c.37440-23G>A 0.420727 0.504 0.449639 0.5231 0.4913 Uncertain 6_10814091_A->G 6 10814091 10814091 A G snp 1663.77 0/1 99 129 64 65 0.5 intronic rs6909367 MAK AR NM_001242385 exon9 c.49272+135A>G 0.464058 0.5119 Uncertain 6_10875238_T->A 6 10875238 10875238 T A snp 1104.77 1/1 81 31 0 31 1.0 intronic rs2076257 GCM2 AD NM_004752 exon1 c.939+72T>A 0.415136 0.6905 Uncertain 6_10876036_C->T 6 10876036 10876036 C T snp 1722.77 1/1 99 61 0 61 1.0 intronic rs2076258 GCM2 AD NM_004752 exon2 c.1896-87C>T 0.413738 0.6865 Uncertain 6_10882100_G->A 6 10882100 10882100 G A snp 1273.77 1/1 93 44 0 44 1.0 upstream rs2153156 GCM2 AD 0.985623 1 Uncertain 6_10887251_T->C 6 10887251 10887251 T C snp 1072.77 0/1 99 64 25 39 0.61 UTR5 rs9366663 SYCP2L AU 0.697484 0.6637 Uncertain 6_10887253_G->C 6 10887253 10887253 G C snp 1099.77 0/1 99 65 26 39 0.6 UTR5 rs9358956 SYCP2L AU 0.754193 0.6687 Uncertain 6_10887276_C->G 6 10887276 10887276 C G snp 1428.77 0/1 99 96 35 61 0.64 UTR5 rs9348724 SYCP2L AU 0.75639 0.6696 Uncertain 6_10891781_C->T 6 10891781 10891781 C T snp 973.77 1/1 69 39 0 39 1.0 exonic rs1538441 SYCP2L AU synonymous SNV NM_001040274 exon2 c.C45T p.D15D 0.98762 1 0.989015 0.9966 1 Uncertain 6_10891847_TGTGTGTG->- 6 10891847 10891854 TGTGTGTG - indel 729.7 1/1 6 27 2 25 0.93 intronic rs3066124 SYCP2L AU NM_001040274 exon2 c.4455+33_4455+40delTGTGTGTG 0.0089 0.0883 Uncertain 6_10891892_G->A 6 10891892 10891892 G A snp 158.77 0/1 99 11 4 7 0.64 intronic rs12523744 SYCP2L AU NM_001040274 exon2 c.4455+78G>A 0.295327 0.3204 Uncertain 6_10894055_A->C 6 10894055 10894055 A C snp 31.77 0/1 60 7 5 2 0.29 intronic rs6936232 SYCP2L AU NM_001040274 exon3 c.6740-44A>C 0.1248 0.1429 0.118496 0.0737 0.1397 Uncertain 6_10894267_C->T 6 10894267 10894267 C T snp 1098.77 0/1 99 78 35 43 0.55 intronic rs6456744 SYCP2L AU NM_001040274 exon3 c.6878+30C>T 0.124201 0.1429 0.108896 0.0708 0.1338 Uncertain 6_10894268_A->G 6 10894268 10894268 A G snp 1100.77 0/1 99 80 36 44 0.55 intronic rs6456745 SYCP2L AU NM_001040274 exon3 c.6878+31A>G 0.34385 0.371 0.397613 0.3672 0.3410 Uncertain 6_10894381_G->A 6 10894381 10894381 G A snp 2583.77 0/1 99 186 79 107 0.58 exonic rs6456746 SYCP2L AU nonsynonymous SNV NM_001040274 exon4 c.G280A p.V94I 0.127796 0.1438 0.124285 0.0777 0.1349 0.35 T 0.002 P -0.938 T 0.0 T 0.0 T Pathogenic 6_10906256_A->G 6 10906256 10906256 A G snp 576.77 0/1 99 55 27 28 0.51 exonic rs4713039 SYCP2L AU synonymous SNV NM_001040274 exon9 c.A645G p.K215K 0.196086 0.377 0.150059 0.1991 0.3775 Uncertain 6_10911282_G->A 6 10911282 10911282 G A snp 874.77 1/1 66 27 0 27 1.0 intronic rs4713044 SYCP2L AU NM_001040274 exon12 c.23743+180G>A 0.771166 0.996 Uncertain 6_10924992_A->G 6 10924992 10924992 A G snp 344.78 1/1 27 11 0 11 1.0 intronic rs1225764 SYCP2L AU NM_001040274 exon15 c.37515+118A>G 0.981629 1 Uncertain 6_10931587_T->C 6 10931587 10931587 T C snp 2187.77 1/1 99 65 0 65 1.0 intronic rs1225729 SYCP2L AU NM_001040274 exon20 c.44313-85T>C 0.989617 1 Uncertain 6_10935424_C->T 6 10935424 10935424 C T snp 1046.77 0/1 99 86 38 48 0.56 splicing rs181416897 SYCP2L AU NM_001040274 exon21 c.48061+4C>T 0.00219649 0.0109 0.0011 0.0147 Pathogenic 6_10942964_A->G 6 10942964 10942964 A G snp 803.77 0/1 99 73 41 32 0.44 exonic rs3798751 SYCP2L AU nonsynonymous SNV NM_001040274 exon23 c.A1939G p.N647D 0.0932508 0.2103 0.052034 0.0816 0.2383 0.32 T 1.000 P -1.069 T 0.884 T 0.503 P Pathogenic 6_10955212_G->A 6 10955212 10955212 G A snp 189.77 0/1 94 9 3 6 0.67 intronic rs1225745 SYCP2L AU NM_001040274 exon24 c.67989-136G>A 0.885184 0.8036 Uncertain 6_10955408_C->T 6 10955408 10955408 C T snp 2261.77 0/1 99 187 89 98 0.52 exonic rs1225746 SYCP2L AU nonsynonymous SNV NM_001040274 exon24 c.C2014T p.P672S 0.883387 0.8036 0.936227 0.9403 0.7788 0.14 T 1.000 P -1.050 T 0.998 D 0.948 D Pathogenic 6_10955594_T->C 6 10955594 10955594 T C snp 687.77 0/1 99 35 12 23 0.66 intronic rs1225747 SYCP2L AU NM_001040274 exon24 c.68091+144T>C 0.885783 0.8036 Uncertain 6_10956214_T->G 6 10956214 10956214 T G snp 56.74 1/1 6 2 0 2 1.0 intronic rs1225751 SYCP2L AU NM_001040274 exon25 c.69009-154T>G 0.884185 0.8095 Uncertain 6_10956236_A->G 6 10956236 10956236 A G snp 119.78 0/1 27 5 1 4 0.8 intronic rs1225752 SYCP2L AU NM_001040274 exon25 c.69009-132A>G 0.886981 0.8095 Uncertain 6_10958997_TTA->- 6 10958997 10958999 TTA - indel 1896.73 0/1 99 62 27 35 0.56 intronic rs141480785 SYCP2L AU NM_001040274 exon26 c.71657-19_71657-17delTTA 0.124002 0.2163 0.071354 0.0586 0.2489 Uncertain 6_10961405_T->C 6 10961405 10961405 T C snp 175.9 1/1 15 5 0 5 1.0 intronic rs4711146 SYCP2L AU NM_001040274 exon27 c.74178-132T>C 0.719649 0.9097 Uncertain 6_10961454_C->A 6 10961454 10961454 C A snp 496.77 0/1 99 33 17 16 0.48 intronic rs2295599 SYCP2L AU NM_001040274 exon27 c.74178-83C>A 0.267372 0.4325 Uncertain 6_10983971_C->G 6 10983971 10983971 C G snp 2841.77 1/1 99 97 0 97 1.0 UTR3 rs4532436 ELOVL2 AU 0.633187 0.9058 0.455175 0.5343 0.9138 Uncertain 6_10989873_-->A 6 10989873 10989873 - A indel 50.73 0/1 88 14 8 6 0.43 intronic rs397935311 ELOVL2 AU NM_017770 exon2 c.5922-62insA Uncertain 6_10990751_T->G 6 10990751 10990751 T G snp 175.77 0/1 99 16 10 6 0.38 intronic rs911196 ELOVL2 AU NM_017770 exon3 c.6662+76T>G 0.251797 0.4563 Uncertain 6_11005842_T->C 6 11005842 11005842 T C snp 1783.77 1/1 99 50 0 50 1.0 intronic rs2295602 ELOVL2 AU NM_017770 exon6 c.21779+50T>C 0.682708 0.9048 0.501077 0.5537 0.9189 Uncertain 6_11010800_T->G 6 11010800 11010800 T G snp 59.74 1/1 6 3 0 3 1.0 intronic rs9295752 ELOVL2 AU NM_017770 exon7 c.26965-178T>G 0.682708 0.9048 Uncertain 6_11011074_T->G 6 11011074 11011074 T G snp 657.77 1/1 48 23 0 23 1.0 intronic rs9380025 ELOVL2 AU NM_017770 exon7 c.27029+32T>G 0.677117 0.8859 0.477853 0.5507 0.9157 Uncertain 6_11094681_G->T 6 11094681 11094681 G T snp 148.77 0/1 99 29 21 8 0.28 intronic rs2273884 SMIM13 AU NM_001135575 exon1 c.76+59G>T 0.517572 0.4077 Uncertain 6_11103888_T->C 6 11103888 11103888 T C snp 2189.77 0/1 99 205 108 97 0.47 UTR3 rs9393931 ERVFRD-1 AU 0.227835 0.3879 0.144134 0.2001 0.4049 Uncertain 6_11134861_G->A 6 11134861 11134861 G A snp 143.77 0/1 99 13 7 6 0.46 UTR3 rs9468484 SMIM13 AU 0.0567093 0.122 0.020368 0.0226 0.1066 Uncertain 6_11185257_A->T 6 11185257 11185257 A T snp 188.9 1/1 15 8 0 8 1.0 UTR3 rs10601 NEDD9 AU 0.895767 0.997 Uncertain 6_11185533_G->A 6 11185533 11185533 G A snp 2016.77 0/1 99 154 75 79 0.51 exonic rs1050775 NEDD9 AU synonymous SNV NM_001142393 exon8 c.C2367T p.T789T 0.492013 0.3492 0.566892 0.4905 0.3490 Uncertain 6_11185967_T->C 6 11185967 11185967 T C snp 506.77 1/1 39 13 0 13 1.0 intronic rs6456968 NEDD9 AU NM_001142393 exon1 c.510+63T>C 0.896166 0.997 Uncertain 6_11190626_A->G 6 11190626 11190626 A G snp 4291.77 1/1 99 151 0 151 1.0 exonic rs941982 NEDD9 AU synonymous SNV NM_001142393 exon6 c.T1476C p.V492V 0.942692 0.998 0.883208 0.8971 0.9999 Uncertain 6_11192522_-->T 6 11192522 11192522 - T indel 1515.73 1/1 99 39 2 37 0.95 intronic rs5874310 NEDD9 AU NM_001142393 exon4 c.7183-55insT 0.916733 0.998 Uncertain 6_11192575_C->T 6 11192575 11192575 C T snp 2936.77 1/1 99 92 0 92 1.0 splicing rs1465131 NEDD9 AU NM_001142393 exon4 c.7183-2C>T 0.913538 0.998 0.849608 0.8868 1 Pathogenic 6_11193860_G->A 6 11193860 11193860 G A snp 1296.77 0/1 99 85 31 54 0.64 exonic rs16871074 NEDD9 AU synonymous SNV NM_001142393 exon4 c.C525T p.D175D 0.197085 0.256 0.176226 0.1820 0.2706 Uncertain 6_11200421_C->T 6 11200421 11200421 C T snp 1092.77 1/1 81 35 0 35 1.0 intronic rs2078599 NEDD9 AU NM_001142393 exon5 c.8531+6496C>T 0.936901 0.998 Uncertain 6_11201437_C->T 6 11201437 11201437 C T snp 911.77 1/1 69 24 0 24 1.0 intronic rs9368610 NEDD9 AU NM_182966 exon1 c.66+158C>T 0.953075 0.998 Uncertain 6_11201468_A->G 6 11201468 11201468 A G snp 150.77 0/1 99 8 3 5 0.63 intronic rs3798735 NEDD9 AU NM_182966 exon1 c.66+189A>G 0.272165 0.3661 Uncertain 6_11213832_T->C 6 11213832 11213832 T C snp 2813.77 0/1 99 250 133 117 0.47 exonic rs3734404 NEDD9 AU synonymous SNV NM_001142393 exon3 c.A141G p.S47S 0.439896 0.4097 0.463786 0.3944 0.4274 Uncertain 6_11214705_G->A 6 11214705 11214705 G A snp 1605.77 0/1 99 159 91 68 0.43 intronic rs1009667 NEDD9 AU NM_001142393 exon6 c.28566+745G>A 0.578275 0.4762 Uncertain 6_11306153_C->T 6 11306153 11306153 C T snp 4423.77 1/1 99 145 0 145 1.0 intronic rs16871236 NEDD9 AU NM_001142393 exon7 c.120830-71C>T 0.426518 0.6746 0.312527 Uncertain 6_11714639_-->A 6 11714639 11714639 - A indel 237.73 0/1 99 29 13 16 0.55 UTR3 rs35108078 ADTRP AU 0.49361 0.4206 Uncertain 6_11714806_G->A 6 11714806 11714806 G A snp 927.77 0/1 99 97 55 42 0.43 intronic rs3734273 ADTRP AU NM_001143948 exon1 c.35+61G>A 0.381989 0.2718 0.477880 Uncertain 6_11714894_-->A 6 11714894 11714894 - A indel 280.73 0/1 99 28 15 13 0.46 intronic rs80355771 ADTRP AU NM_001143948 exon1 c.35+149insA 0.159744 0.4931 Uncertain 6_11723538_A->G 6 11723538 11723538 A G snp 1336.77 1/1 99 44 0 44 1.0 intronic rs210905 ADTRP AU NM_001143948 exon2 c.8871-43A>G 0.889976 1 0.827926 0.8431 0.9979 Uncertain 6_11723542_G->A 6 11723542 11723542 G A snp 675.77 0/1 99 46 20 26 0.57 intronic rs2076186 ADTRP AU NM_001143948 exon2 c.8871-39G>A 0.155551 0.4821 0.033754 0.0814 0.4640 Uncertain 6_11723636_C->T 6 11723636 11723636 C T snp 1313.77 0/1 99 113 57 56 0.5 exonic rs2076185 ADTRP AU nonsynonymous SNV NM_001143948 exon6 c.G658A p.V220I 0.157548 0.4812 0.042750 0.0824 0.4648 0.77 T 0.0 P -0.983 T 0.0 T 0.001 T Pathogenic 6_11723832_G->A 6 11723832 11723832 G A snp 586.77 0/1 99 29 8 21 0.72 intronic rs2076184 ADTRP AU NM_001143948 exon2 c.9023+99G>A 0.362021 0.6458 Uncertain 6_11735768_A->G 6 11735768 11735768 A G snp 2304.77 0/1 99 184 87 97 0.53 intronic rs2281127 ADTRP AU NM_001143948 exon3 c.21090-32A>G 0.156749 0.4871 0.038521 0.0949 0.4980 Uncertain 6_11735981_TC->- 6 11735981 11735982 TC - indel 272.73 0/1 99 12 5 7 0.58 intronic rs3830755 ADTRP AU NM_001143948 exon3 c.21206+65_21206+66delTC 0.156749 0.4871 Uncertain 6_11770103_C->A 6 11770103 11770103 C A snp 611.77 0/1 99 46 21 25 0.54 intronic rs9380513 ADTRP AU NM_001143948 exon6 c.55553-160C>A 0.202276 0.4841 Uncertain 6_11770114_T->G 6 11770114 11770114 T G snp 690.77 0/1 99 52 22 30 0.58 intronic rs9394302 ADTRP AU NM_001143948 exon6 c.55553-149T>G 0.203674 0.4821 Uncertain 6_11770335_A->- 6 11770335 11770335 A - indel 611.73 0/1 99 80 45 35 0.44 intronic rs148298172 ADTRP AU NM_001143948 exon6 c.55607+18delA 0.25619 0.4881 0.185632 0.1889 0.5368 Uncertain 6_11779088_C->T 6 11779088 11779088 C T snp 206.77 0/1 99 16 9 7 0.44 UTR5 rs2076189 ADTRP AU 0.349241 0.2262 Uncertain 6_12016009_G->C 6 12016009 12016009 G C snp 728.77 1/1 54 27 0 27 1.0 intronic rs6916066 HIVEP1 AU NM_002114 exon2 c.40+108G>C 0.627196 0.7014 Uncertain 6_12120090_C->T 6 12120090 12120090 C T snp 2371.77 1/1 99 76 0 76 1.0 intronic rs3800499 HIVEP1 AU NM_002114 exon4 c.104261-32C>T 0.246605 0.4663 0.155208 0.2250 0.4758 Uncertain 6_12122645_A->G 6 12122645 12122645 A G snp 7456.77 1/1 99 247 0 247 1.0 exonic rs6900196 HIVEP1 AU nonsynonymous SNV NM_002114 exon4 c.A2617G p.T873A 1 1 0.999918 1.0000 1 1.000 P -0.921 T 0.0 T 0.0 T Pathogenic 6_12122773_T->C 6 12122773 12122773 T C snp 5502.77 1/1 99 188 0 188 1.0 exonic rs2228211 HIVEP1 AU synonymous SNV NM_002114 exon4 c.T2745C p.T915T 0.263179 0.4702 0.170274 0.2353 0.4778 Uncertain 6_12290729_A->- 6 12290729 12290729 A - indel 396.73 0/1 99 26 13 13 0.5 UTR5 rs1800997 EDN1 AR,AD,AU 0.798522 0.8224 Uncertain 6_12292772_G->T 6 12292772 12292772 G T snp 1255.77 0/1 99 94 43 51 0.54 intronic rs2070699 EDN1 AR,AD,AU NM_001955 exon2 c.1880+30G>T 0.35623 0.5446 0.335076 0.4424 0.5492 Uncertain 6_12294137_T->C 6 12294137 12294137 T C snp 483.77 0/1 99 54 33 21 0.39 intronic rs1800543 EDN1 AR,AD,AU NM_001955 exon3 c.3311-36T>C 0.273962 0.2976 0.233067 0.2642 0.3004 Uncertain 6_12294258_A->G 6 12294258 12294258 A G snp 4563.77 1/1 99 175 0 175 1.0 exonic rs5369 EDN1 AR,AD,AU synonymous SNV NM_001955 exon3 c.A318G p.E106E 0.901358 0.9772 0.872213 0.9027 0.9761 Uncertain 6_12296255_G->T 6 12296255 12296255 G T snp 1763.77 0/1 99 215 135 80 0.37 exonic rs5370 EDN1 AR,AD,AU nonsynonymous SNV NM_001955 exon5 c.G594T p.K198N 0.247404 0.2857 0.206213 0.2345 0.2804 0.08 T 0.002 P -0.893 T 0.454 P 0.071 P CLINSIG=other;CLNDBN=High_density_lipoprotein_cholesterol_level_quantitative_trait_locus_7;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000018132.1;CLNDSDB=MedGen;CLNDSDBID=C1414260 ID=CM993569;DIS=Higher blood pressure in overweight people, association;TAG=DP;PUB=10334806 DP Pathogenic 6_13182718_T->G 6 13182718 13182718 T G snp 921.77 0/1 99 73 30 43 0.59 intronic rs79308302 PHACTR1 AU NM_001242648 exon7 c.463774-32T>G 0.0533147 0.0645 0.043999 0.0227 0.0644 Uncertain 6_13206282_C->T 6 13206282 13206282 C T snp 2724.77 1/1 99 94 0 94 1.0 exonic rs73725623 PHACTR1 AU synonymous SNV NM_030948 exon8 c.C900T p.T300T 0.10004 0.248 0.046162 0.0436 0.2382 1.000 P -1.064 T Likely benign 6_13253413_T->G 6 13253413 13253413 T G snp 71.77 0/1 99 6 3 3 0.5 intronic rs74802789 PHACTR1 AU NM_001242648 exon11 c.554115-19678T>G 0.0205671 0.0962 Uncertain 6_13273318_A->G 6 13273318 13273318 A G snp 303.77 0/1 99 14 5 9 0.64 intronic rs202054 PHACTR1 AU NM_001242648 exon11 c.554171+171A>G 0.495807 0.3244 Uncertain 6_13278262_T->C 6 13278262 13278262 T C snp 94.28 1/1 9 3 0 3 1.0 intronic rs2119485 PHACTR1 AU NM_001242648 exon12 c.559523-237T>C 0.574681 0.5675 Uncertain 6_13278648_A->G 6 13278648 13278648 A G snp 413.77 1/1 33 16 0 16 1.0 intronic rs3817735 PHACTR1 AU NM_001242648 exon12 c.559585+87A>G 0.604233 0.5665 Uncertain 6_13281412_A->G 6 13281412 13281412 A G snp 1739.77 0/1 99 137 61 76 0.55 intronic rs3846903 LOC100130357 AU NM_001242698 exon1 c.197+24A>G 0.38738 0.2768 0.5270 0.2742 Uncertain 6_13281823_TGTC->- 6 13281823 13281826 TGTC - indel 2960.73 0/1 99 97 49 48 0.49 intronic rs10542364 LOC100130357 AU NM_001242698 exon2 c.594+38_594+41delTGTC 0.177516 0.1488 0 . Uncertain 6_13283924_A->G 6 13283924 13283924 A G snp 107.77 0/1 99 9 5 4 0.44 intronic rs416831 LOC100130357 AU NM_001242698 exon2 c.594+2139A>G 0.304912 0.1577 0.1823 0.1604 Uncertain 6_13286202_G->T 6 13286202 13286202 G T snp 668.77 0/1 99 36 11 25 0.69 intronic rs368590 LOC100130357 AU NM_001242698 exon2 c.594+4417G>T 0.305511 0.1577 Uncertain 6_13286269_TTGT->- 6 13286269 13286272 TTGT - indel 3855.73 0/1 99 117 55 62 0.53 intronic rs139615132 LOC100130357 AU NM_001242698 exon2 c.594+4484_594+4487delTTGT 0.0978435 0.0962 Uncertain 6_13286517_A->G 6 13286517 13286517 A G snp 251.77 0/1 99 20 10 10 0.5 intronic rs617580 LOC100130357 AU NM_001242698 exon2 c.594+4732A>G 0.467452 0.3681 0.383487 Uncertain 6_13287400_G->A 6 13287400 13287400 G A snp 910.77 0/1 99 71 39 32 0.45 UTR3 rs693758 PHACTR1 AU 0.220847 0.1399 0.170390 Uncertain 6_13288535_C->T 6 13288535 13288535 C T snp 806.77 1/1 60 28 0 28 1.0 intronic rs202040 LOC100130357 AU NM_001242698 exon3 c.13836-6492C>T 0.842652 0.6518 Uncertain 6_13288573_T->C 6 13288573 13288573 T C snp 514.77 0/1 99 48 25 23 0.48 intronic rs77850268 LOC100130357 AU NM_001242698 exon3 c.13836-6454T>C 0.0225639 0.0962 Uncertain 6_13288578_G->A 6 13288578 13288578 G A snp 1365.77 1/1 99 49 0 49 1.0 intronic rs202039 LOC100130357 AU NM_001242698 exon3 c.13836-6449G>A 0.678914 0.4444 Uncertain 6_13288648_A->G 6 13288648 13288648 A G snp 2277.77 1/1 99 91 0 91 1.0 intronic rs202038 LOC100130357 AU NM_001242698 exon3 c.13836-6379A>G 0.889955 0.8506 0.6234 Uncertain 6_13288680_CT->- 6 13288680 13288681 CT - indel 3926.73 1/1 99 87 0 87 1.0 intronic rs398065583 LOC100130357 AU NM_001242698 exon3 c.13836-6347_13836-6346delCT 0.681709 0.4444 0.746448 0.6632 0.4419 Uncertain 6_13288737_T->A 6 13288737 13288737 T A snp 1657.77 1/1 99 63 0 63 1.0 intronic rs202036 LOC100130357 AU NM_001242698 exon3 c.13836-6290T>A 0.681909 0.4444 Uncertain 6_13294866_G->A 6 13294866 13294866 G A snp 384.77 0/1 99 19 6 13 0.68 intronic rs6910418 LOC100130357 AU NM_001242698 exon3 c.13836-161G>A 0.353235 0.2589 Uncertain 6_13294976_G->A 6 13294976 13294976 G A snp 879.77 0/1 99 82 44 38 0.46 intronic rs20500 LOC100130357 AU NM_001242698 exon3 c.13836-51G>A 0.28734 0.3036 Uncertain 6_13295004_C->T 6 13295004 13295004 C T snp 1044.77 0/1 99 103 53 50 0.49 intronic rs20499 LOC100130357 AU NM_001242698 exon3 c.13836-23C>T 0.203474 0.3016 0.2343 0.3333 Uncertain 6_13295502_T->C 6 13295502 13295502 T C snp 1455.77 1/1 99 54 0 54 1.0 splicing rs4602719 LOC100130357 AU NM_001242698 exon4 c.14315-4T>C 0.844449 0.6657 0.8419 0.6566 Pathogenic 6_13295515_A->C 6 13295515 13295515 A C snp 1690.77 1/1 99 61 0 61 1.0 exonic rs1550526 LOC100130357 AU nonsynonymous SNV NM_001242698 exon2 c.T29G p.L10R 0.839457 0.6657 0.8410 0.66 Pathogenic 6_13295536_C->T 6 13295536 13295536 C T snp 1574.77 1/1 99 61 0 61 1.0 exonic rs454563 LOC100130357 AU nonsynonymous SNV NM_001242698 exon2 c.G8A p.R3K 0.844249 0.6647 0.8423 0.66 Pathogenic 6_13295753_G->- 6 13295753 13295753 G - indel 257.75 1/1 24 10 0 10 1.0 UTR5 rs35194435 LOC100130357 AU 0.752396 0.624 Uncertain 6_13307824_C->T 6 13307824 13307824 C T snp 868.77 0/1 99 66 30 36 0.55 intronic rs2439537 TBC1D7 AR NM_001143966 exon3 c.2499-7C>T 0.330671 0.3214 0.257497 0.3162 0.2877 Uncertain 6_13308083_T->C 6 13308083 13308083 T C snp 408.77 0/1 99 25 12 13 0.52 intronic rs2439538 TBC1D7 AR NM_001143966 exon3 c.2645+106T>C 0.493411 0.6359 Uncertain 6_13316658_T->C 6 13316658 13316658 T C snp 46.78 0/1 27 4 1 3 0.75 intronic rs860266 TBC1D7 AR NM_001143966 exon4 c.11470-144T>C 0.503195 0.6538 Uncertain 6_13325279_C->T 6 13325279 13325279 C T snp 811.77 0/1 99 99 60 39 0.39 intronic rs2439553 TBC1D7 AR NM_016495 exon6 c.19993-46C>T 0.555312 0.5992 0.450331 0.4438 0.6280 Uncertain 6_13361088_A->G 6 13361088 13361088 A G snp 3010.77 1/1 99 105 0 105 1.0 intergenic rs2496162 TBC1D7 AR 0.612021 0.6409 0.6016 0.645 Uncertain 6_13365913_C->G 6 13365913 13365913 C G snp 2943.77 1/1 99 99 0 99 1.0 intronic rs9367440 GFOD1 AU NM_018988 exon1 c.920+19C>G 0.439297 0.6677 0.377858 0.5385 0.6775 Uncertain 6_13470113_A->T 6 13470113 13470113 A T snp 6387.77 1/1 99 219 0 219 1.0 intronic rs766773 GFOD1 AU NM_001242628 exon2 c.121268-16129A>T 0.90655 1 0.913709 0.9607 1 0 D 0.0 P -1.020 T 0.0 T 0.0 T Uncertain 6_13642922_C->T 6 13642922 13642922 C T snp 349.77 0/1 99 14 4 10 0.71 intronic rs3752502 RANBP9 AU NM_005493 exon8 c.20230+99C>T 0.209465 0.1627 Uncertain 6_13659079_T->G 6 13659079 13659079 T G snp 1903.77 0/1 99 163 84 79 0.48 intronic rs204232 RANBP9 AU NM_005493 exon12 c.36471+15T>G 0.673922 0.4603 0.645394 0.6214 0.4886 Uncertain 6_13711279_A->G 6 13711279 13711279 A G snp 1538.77 0/1 99 156 88 68 0.44 exonic rs6905991 RANBP9 AU synonymous SNV NM_005493 exon1 c.T459C p.R153R 0.433906 0.2847 0.449227 0.5115 0.3890 Uncertain 6_13791292_T->C 6 13791292 13791292 T C snp 50.74 1/1 6 2 0 2 1.0 intronic rs7772078 MCUR1 AU NM_001031713 exon1 c.56+196T>C 0.732029 0.7808 Uncertain 6_13794147_C->T 6 13794147 13794147 C T snp 1012.77 0/1 99 70 26 44 0.63 exonic rs3823247 MCUR1 AU synonymous SNV NM_001031713 exon7 c.G888A p.L296L 0.0814696 0.2381 0.009998 0.0359 0.2156 Uncertain 6_13814340_T->C 6 13814340 13814340 T C snp 340.77 0/1 99 33 18 15 0.45 exonic rs1204145 MCUR1 AU nonsynonymous SNV NM_001031713 exon1 c.A322G p.S108G 0.684105 0.7282 0.6765 0.875 1 T 0.0 P -0.949 T 0.0 T 0.0 T Pathogenic 6_14131804_G->A 6 14131804 14131804 G A snp 3047.77 0/1 99 199 73 126 0.63 exonic rs7743206 CD83 AU synonymous SNV NM_001040280 exon3 c.G207A p.R69R 0.130591 0.1766 0.140551 0.1187 0.1562 Uncertain 6_14134083_T->C 6 14134083 14134083 T C snp 116.77 0/1 66 6 2 4 0.67 intronic rs9296925 CD83 AU NM_001251901 exon4 c.2212+97T>C 0.432508 0.3879 Uncertain 6_15369308_G->T 6 15369308 15369308 G T snp 291.77 0/1 99 23 13 10 0.43 intronic rs145887088 JARID2 AU NM_004973 exon2 c.127577-5039G>T 0.000199681 0.001 Uncertain 6_15373652_T->A 6 15373652 15373652 T A snp 2249.77 0/1 99 158 68 90 0.57 intronic rs11757092 JARID2 AU NM_004973 exon2 c.127577-695T>A 0.499401 0.5317 Uncertain 6_15374508_A->G 6 15374508 15374508 A G snp 2984.77 1/1 99 100 0 100 1.0 intronic rs9383050 JARID2 AU NM_004973 exon2 c.127713+25A>G 0.996805 1 0.988851 0.9915 0.9999 Uncertain 6_15374544_C->T 6 15374544 15374544 C T snp 596.77 0/1 99 48 26 22 0.46 intronic rs2072820 JARID2 AU NM_004973 exon2 c.127713+61C>T 0.509784 0.4623 Uncertain 6_15487782_C->G 6 15487782 15487782 C G snp 1593.77 0/1 99 113 49 64 0.57 intronic rs2076056 JARID2 AU NM_004973 exon6 c.241003+9C>G 0.201877 0.3075 0.215747 0.2643 0.3345 Uncertain 6_15496662_C->T 6 15496662 15496662 C T snp 2637.77 0/1 99 207 94 113 0.55 exonic rs742099 JARID2 AU synonymous SNV NM_004973 exon7 c.C1206T p.P402P 0.1877 0.3056 0.197294 0.2332 0.3055 Uncertain 6_15497422_A->G 6 15497422 15497422 A G snp 1192.77 0/1 99 95 51 44 0.46 intronic rs9349979 JARID2 AU NM_004973 exon7 c.250631+21A>G 0.442093 0.5109 0.301052 0.4596 0.5272 Uncertain 6_15500999_G->A 6 15500999 15500999 G A snp 388.77 0/1 99 30 18 12 0.4 intronic rs13192234 JARID2 AU NM_004973 exon8 c.254367-138G>A 0.199281 0.3165 Uncertain 6_15504589_T->C 6 15504589 15504589 T C snp 1153.77 1/1 84 32 0 32 1.0 intronic rs760659 JARID2 AU NM_004973 exon9 c.257960-141T>C 0.72484 0.9147 Uncertain 6_15511429_-->CCAT 6 15511429 15511429 - CCAT indel 3646.73 1/1 99 51 0 51 1.0 intronic rs55742636 JARID2 AU NM_004973 exon13 c.264756-97insCCAT 0.663538 0.7103 Uncertain 6_15513482_G->A 6 15513482 15513482 G A snp 674.77 0/1 99 63 38 25 0.4 exonic rs2235258 JARID2 AU synonymous SNV NM_004973 exon16 c.G3279A p.L1093L 0.584864 0.6667 0.638187 0.7441 0.6973 Uncertain 6_15513744_G->T 6 15513744 15513744 G T snp 948.77 0/1 99 59 27 32 0.54 intronic rs9396589 JARID2 AU NM_004973 exon16 c.266883+91G>T 0.269569 0.4425 Uncertain 6_15533951_C->T 6 15533951 15533951 C T snp 1994.77 0/1 99 156 68 88 0.56 intronic rs4236167 DTNBP1 AR NM_001271669 exon3 c.10421+325C>T 0.474042 0.6081 Uncertain 6_15586009_G->T 6 15586009 15586009 G T snp 3416.77 1/1 99 126 1 125 0.99 intronic rs6926401 DTNBP1 AR NM_001271669 exon4 c.70084-7280G>T 0.971845 1 0.9559 1 Uncertain 6_15586132_A->G 6 15586132 15586132 A G snp 65.77 0/1 94 8 5 3 0.38 intronic rs12524251 DTNBP1 AR NM_001271669 exon4 c.70084-7157A>G 0.16873 0.3175 Uncertain 6_15593240_T->C 6 15593240 15593240 T C snp 1031.77 1/1 81 43 0 43 1.0 intronic rs7758659 DTNBP1 AR NM_001271669 exon4 c.70084-49T>C 0.888379 1 0.792226 0.8322 0.9998 Uncertain 6_15593319_-->A 6 15593319 15593319 - A indel 222.73 0/1 99 50 20 30 0.6 intronic rs199770715 DTNBP1 AR NM_001271669 exon4 c.70107+7insA 0.1750 0.2439 Uncertain 6_15615637_G->A 6 15615637 15615637 G A snp 1059.77 0/1 99 71 30 41 0.58 intronic rs3829893 DTNBP1 AR NM_001271669 exon5 c.92425+7G>A 0.172125 0.3155 0.134246 0.1668 0.2929 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000150587.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 6_15627553_C->G 6 15627553 15627553 C G snp 956.77 0/1 99 99 58 41 0.41 intronic rs16876738 DTNBP1 AR NM_001271669 exon6 c.104368-20C>G 0.173123 0.3165 0.136475 0.1670 0.2941 Uncertain 6_15660871_T->C 6 15660871 15660871 T C snp 125.78 0/1 27 5 1 4 0.8 intronic rs909706 DTNBP1 AR NM_001271669 exon8 c.139839-2173T>C 0.602236 0.4058 Uncertain 6_16143864_A->G 6 16143864 16143864 A G snp 370.77 0/1 99 38 25 13 0.34 intronic rs2072784 MYLIP AU NM_013262 exon5 c.14376-65A>G 0.195088 0.4087 Uncertain 6_16143897_A->G 6 16143897 16143897 A G snp 683.77 0/1 99 74 43 31 0.42 intronic rs2072783 MYLIP AU NM_013262 exon5 c.14376-32A>G 0.195288 0.4087 0.103875 0.1710 0.4076 Uncertain 6_16145325_A->G 6 16145325 16145325 A G snp 5313.77 1/1 99 180 0 180 1.0 exonic rs9370867 MYLIP AU nonsynonymous SNV NM_013262 exon6 c.A1025G p.N342S 0.769968 0.9435 0.615101 0.6066 0.9548 1 T 0.0 P -1.070 T 0.0 T 0.0 T ID=CM116474;DIS=High total cholesterol levels, association with;TAG=DFP;PUB=21765216 DFP Pathogenic 6_16246905_G->C 6 16246905 16246905 G C snp 529.77 0/1 99 47 27 20 0.43 intronic rs2274152 GMPR AU NM_006877 exon2 c.8148-167G>C 0.142372 0.123 Uncertain 6_16274791_G->A 6 16274791 16274791 G A snp 575.77 0/1 99 42 18 24 0.57 intronic rs9396661 GMPR AU NM_006877 exon5 c.35803+64G>A 0.348642 0.6022 Uncertain 6_16290761_T->A 6 16290761 16290761 T A snp 3090.77 1/1 99 115 0 115 1.0 exonic rs1042391 GMPR AU nonsynonymous SNV NM_006877 exon8 c.T766A p.F256I 0.70627 0.874 0.537367 0.5444 0.8883 1 T 0.000 P -1.067 T 0.0 T 0.0 T CLINSIG=non-pathogenic;CLNDBN=GMP_REDUCTASE_POLYMORPHISM;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000017331.1;CLNDSDB=.;CLNDSDBID=. Pathogenic 6_16306866_G->A 6 16306866 16306866 G A snp 7335.77 1/1 99 248 1 247 1.0 exonic rs2072737 ATXN1 AD synonymous SNV NM_000332 exon9 c.C2142T p.D714D 0.120008 0.3026 0.041596 0.0631 0.3227 Uncertain 6_16327330_T->C 6 16327330 16327330 T C snp 1774.77 0/1 99 162 88 74 0.46 exonic rs2075974 ATXN1 AD synonymous SNV NM_000332 exon8 c.A1212G p.E404E 0.369209 0.4772 0.280947 0.2710 0.5044 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000116468.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 6_16327615_A->G 6 16327615 16327615 A G snp 5443.77 1/1 99 184 1 183 0.99 exonic rs179990 ATXN1 AD synonymous SNV NM_000332 exon8 c.T927C p.A309A 0.780152 0.8552 0.707289 0.7320 0.8624 CLINSIG=probable-non-pathogenic,probable-non-pathogenic;CLNDBN=not_specified,not_specified;CLNREVSTAT=no_assertion_criteria_provided,no_assertion_criteria_provided;CLNACC=RCV000116476.2,RCV000116475.2;CLNDSDB=MedGen,MedGen;CLNDSDBID=CN169374,CN169374 Uncertain 6_16327906_C->A 6 16327906 16327906 C A snp 31.77 0/1 60 66 55 11 0.17 exonic rs376233432 ATXN1 AD nonsynonymous SNV NM_000332 exon8 c.G636T p.Q212H 4.365e-05 0 0.09 T 1 N -1.024 T Pathogenic 6_16327909_A->C 6 16327909 16327909 A C snp 1138.77 0/1 99 63 24 39 0.62 exonic rs59310777 ATXN1 AD nonsynonymous SNV NM_000332 exon8 c.T633G p.H211Q 0.266374 0.3879 0.0636 0.1175 0.53 T 0.0 P -0.995 T CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000116471.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 6_16327912_C->A 6 16327912 16327912 C A snp 105.77 0/1 99 65 54 11 0.17 exonic rs368218879 ATXN1 AD nonsynonymous SNV NM_000332 exon8 c.G630T p.Q210H 0.53 T 1 N -0.969 T Pathogenic 6_16327915_A->C 6 16327915 16327915 A C snp 239.77 0/1 99 62 49 13 0.21 exonic rs11969612 ATXN1 AD nonsynonymous SNV NM_000332 exon8 c.T627G p.H209Q 0.46 T 1 N -0.978 T 0.462 P 0.227 P Pathogenic 6_16327916_TGC->- 6 16327916 16327918 TGC - indel 1721.73 ./1 99 64 0 64 1.0 exonic ATXN1 AD nonframeshift deletion NM_000332 exon8 c.624_626del p.208_209del ID=COSM3718908;OCCURENCE=2(upper_aerodigestive_tract) Likely pathogenic 6_16327915_-->TGC 6 16327915 16327915 - TGC indel 1721.73 ./1 99 64 0 64 1.0 exonic ATXN1 AD nonframeshift insertion NM_000332 exon8 c.626_627insGCA p.H209delinsQH ID=COSM3718779;OCCURENCE=1(upper_aerodigestive_tract) Likely pathogenic 6_16328068_T->C 6 16328068 16328068 T C snp 1870.77 0/1 99 147 66 81 0.55 exonic rs2072736 ATXN1 AD synonymous SNV NM_000332 exon8 c.A474G p.A158A 0.218251 0.374 0.105734 0.1172 0.3647 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000116470.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 6_16753352_A->C 6 16753352 16753352 A C snp 46.77 0/1 72 5 2 3 0.6 intronic rs10456791 ATXN1 AD NM_000332 exon7 c.446904-111A>C 0.086262 0.1488 Uncertain 6_16753377_A->G 6 16753377 16753377 A G snp 77.77 0/1 99 9 6 3 0.33 intronic rs56192497 ATXN1 AD NM_000332 exon7 c.446904-86A>G 0.293131 0.6131 Uncertain 6_16753378_A->G 6 16753378 16753378 A G snp 107.77 0/1 99 11 7 4 0.36 intronic rs56374431 ATXN1 AD NM_000332 exon7 c.446904-85A>G 0.293131 0.6131 Uncertain 6_17102429_G->A 6 17102429 17102429 G A snp 2816.77 1/1 99 109 4 105 0.96 upstream rs9367941 STMND1 AU 0.334864 0.4266 Uncertain 6_17102600_A->G 6 17102600 17102600 A G snp 2923.77 1/1 99 102 0 102 1.0 intronic rs2147230 STMND1 AU NM_001190766 exon1 c.81+31A>G 0.488219 0.6756 0.4226 0.6313 Uncertain 6_17115384_G->C 6 17115384 17115384 G C snp 1720.77 1/1 99 63 0 63 1.0 intronic rs34224564 STMND1 AU NM_001190766 exon2 c.12882+14G>C 0.20627 0.2133 0.3130 0.2240 Uncertain 6_17282415_G->C 6 17282415 17282415 G C snp 720.77 0/1 99 80 45 35 0.44 UTR5 rs1108512 RBM24 AU 0.795128 0.7321 Uncertain 6_17283321_T->G 6 17283321 17283321 T G snp 40.78 0/1 27 3 1 2 0.67 intronic rs3749855 RBM24 AU NM_001143941 exon2 c.118+162T>G 0.0716853 0.1687 Uncertain 6_17284760_A->G 6 17284760 17284760 A G snp 311.77 0/1 99 18 6 12 0.67 intronic rs3763175 RBM24 AU NM_001143941 exon3 c.1846-127A>G 0.0746805 0.1677 Uncertain 6_17493690_C->G 6 17493690 17493690 C G snp 1886.77 0/1 99 201 119 82 0.41 intronic rs751502 CAP2 AU NM_006366 exon5 c.85613-13709C>G 0.633986 0.744 Uncertain 6_17513954_T->C 6 17513954 17513954 T C snp 152.77 0/1 99 11 5 6 0.55 intronic rs4716146 CAP2 AU NM_006366 exon7 c.92293-125T>C 0.720447 0.75 Uncertain 6_17541305_C->A 6 17541305 17541305 C A snp 1358.77 0/1 99 128 67 61 0.48 exonic rs75982837 CAP2 AU nonsynonymous SNV NM_006366 exon9 c.C928A p.P310T 0.0479233 0.121 0.014224 0.0204 0.1145 0.14 T 0.999 P -1.097 T 0.132 T 0.159 T Pathogenic 6_17541484_G->T 6 17541484 17541484 G T snp 422.77 0/1 99 49 31 18 0.37 intronic rs4716155 CAP2 AU NM_006366 exon9 c.119593+105G>T 0.507388 0.4891 Uncertain 6_17541490_G->A 6 17541490 17541490 G A snp 378.77 0/1 99 48 31 17 0.35 intronic rs4716156 CAP2 AU NM_006366 exon9 c.119593+111G>A 0.376997 0.5149 Uncertain 6_17543036_A->G 6 17543036 17543036 A G snp 117.77 0/1 99 8 4 4 0.5 intronic rs2296249 CAP2 AU NM_006366 exon10 c.121281-31A>G 0.627596 0.7331 0.645625 0.6208 0.7285 Uncertain 6_17543302_A->G 6 17543302 17543302 A G snp 1940.77 0/1 99 152 64 88 0.58 exonic rs9256 CAP2 AU synonymous SNV NM_006366 exon11 c.A1137G p.K379K 0.626398 0.7331 0.645702 0.6192 0.7287 Uncertain 6_17551781_C->T 6 17551781 17551781 C T snp 2283.77 0/1 99 225 125 100 0.44 exonic rs2296251 CAP2 AU synonymous SNV NM_006366 exon12 c.C1296T p.I432I 0.0491214 0.1915 0.003460 0.0225 0.1836 Uncertain 6_17600991_G->T 6 17600991 17600991 G T snp 732.77 0/1 99 187 151 36 0.19 exonic FAM8A1 AU synonymous SNV NM_016255 exon1 c.G351T p.V117V Uncertain 6_17601035_A->G 6 17601035 17601035 A G snp 823.77 0/1 99 180 141 39 0.22 exonic FAM8A1 AU nonsynonymous SNV NM_016255 exon1 c.A395G p.H132R 0.46 T 0.797 D -1.098 T 0.915 T 0.164 D Pathogenic 6_17601040_G->A 6 17601040 17601040 G A snp 812.77 0/1 99 173 134 39 0.23 exonic FAM8A1 AU nonsynonymous SNV NM_016255 exon1 c.G400A p.G134S 0.97 T 0.815 D -1.088 T 0.999 D 0.788 D Pathogenic 6_17601041_G->T 6 17601041 17601041 G T snp 819.77 0/1 99 171 132 39 0.23 exonic FAM8A1 AU nonsynonymous SNV NM_016255 exon1 c.G401T p.G134V 0.7 T 1.000 D -1.044 T 0.994 D 0.795 D Pathogenic 6_17601044_T->C 6 17601044 17601044 T C snp 831.77 0/1 99 169 130 39 0.23 exonic FAM8A1 AU nonsynonymous SNV NM_016255 exon1 c.T404C p.L135P 0.3 T 1 D -0.925 T 1.0 D 0.972 D Pathogenic 6_17601048_C->T 6 17601048 17601048 C T snp 840.77 0/1 99 166 126 40 0.24 exonic FAM8A1 AU synonymous SNV NM_016255 exon1 c.C408T p.A136A Uncertain 6_17601057_A->C 6 17601057 17601057 A C snp 833.77 0/1 99 165 125 40 0.24 exonic FAM8A1 AU synonymous SNV NM_016255 exon1 c.A417C p.P139P Uncertain 6_17601058_G->A 6 17601058 17601058 G A snp 819.77 0/1 99 162 123 39 0.24 exonic FAM8A1 AU nonsynonymous SNV NM_016255 exon1 c.G418A p.A140T 0.26 T 0.885 D -1.072 T 0.005 T 0.005 T Pathogenic 6_17601075_G->A 6 17601075 17601075 G A snp 754.77 0/1 99 142 102 40 0.28 exonic rs762864727 FAM8A1 AU synonymous SNV NM_016255 exon1 c.G435A p.Q145Q 2.852e-05 0 Uncertain 6_17601078_C->A 6 17601078 17601078 C A snp 737.77 0/1 99 134 97 37 0.28 exonic rs763943460 FAM8A1 AU synonymous SNV NM_016255 exon1 c.C438A p.P146P 1.911e-05 0 Uncertain 6_17601084_G->A 6 17601084 17601084 G A snp 716.77 0/1 99 128 92 36 0.28 exonic rs201268445 FAM8A1 AU synonymous SNV NM_016255 exon1 c.G444A p.P148P 1.952e-05 0 Uncertain 6_17601086_A->G 6 17601086 17601086 A G snp 692.77 0/1 99 128 93 35 0.27 exonic rs761785475 FAM8A1 AU nonsynonymous SNV NM_016255 exon1 c.A446G p.Q149R 1.963e-05 0 0.63 T 1 N -0.938 T 0.046 T 0.009 T Pathogenic 6_17601098_C->T 6 17601098 17601098 C T snp 609.77 0/1 99 112 81 31 0.28 exonic rs760779863 FAM8A1 AU nonsynonymous SNV NM_016255 exon1 c.C458T p.S153L 1.065e-05 0 0.17 T 1 N -1.030 T 0.062 T 0.005 T Pathogenic 6_17601103_G->A 6 17601103 17601103 G A snp 592.77 0/1 99 106 76 30 0.28 exonic rs201905369 FAM8A1 AU nonsynonymous SNV NM_016255 exon1 c.G463A p.G155S 1.107e-05 0 0.29 T 1 N -1.048 T 0.005 T 0.001 T Pathogenic 6_17601111_A->T 6 17601111 17601111 A T snp 473.77 0/1 99 97 69 28 0.29 exonic rs758886973 FAM8A1 AU synonymous SNV NM_016255 exon1 c.A471T p.A157A 0 0 Uncertain 6_17601213_C->T 6 17601213 17601213 C T snp 69.77 0/1 98 74 67 7 0.09 exonic rs61736671 FAM8A1 AU synonymous SNV NM_016255 exon1 c.C573T p.A191A 0.00978435 0.018889 0.0279 0.0003 Uncertain 6_17601228_T->G 6 17601228 17601228 T G snp 74.77 0/1 99 80 73 7 0.09 exonic FAM8A1 AU synonymous SNV NM_016255 exon1 c.T588G p.P196P Uncertain 6_17601233_C->A 6 17601233 17601233 C A snp 71.77 0/1 99 80 73 7 0.09 exonic FAM8A1 AU nonsynonymous SNV NM_016255 exon1 c.C593A p.P198Q 0.25 T 1.000 N -1.076 T 0.144 T 0.024 T Pathogenic 6_17601239_C->T 6 17601239 17601239 C T snp 74.77 0/1 99 83 75 8 0.1 exonic rs754516420 FAM8A1 AU nonsynonymous SNV NM_016255 exon1 c.C599T p.A200V 2.218e-05 0 0.09 T 1.000 N -1.009 T 0.052 T 0.012 T Pathogenic 6_17601254_G->A 6 17601254 17601254 G A snp 30.77 0/1 59 89 82 7 0.08 exonic FAM8A1 AU nonsynonymous SNV NM_016255 exon1 c.G614A p.R205Q 0.64 T 0.821 D -1.096 T 0.071 T 0.004 T Pathogenic 6_17602826_G->T 6 17602826 17602826 G T snp 111.77 0/1 99 16 9 7 0.44 exonic rs74444948 FAM8A1 AU stopgain NM_016255 exon2 c.G718T p.E240X 0.01 T 1 A Pathogenic 6_17602839_C->T 6 17602839 17602839 C T snp 94.77 0/1 99 22 15 7 0.32 exonic rs77560474 FAM8A1 AU nonsynonymous SNV NM_016255 exon2 c.C731T p.P244L 0.0058 0.0043 0 D 1 D -0.237 T 1.0 D 0.999 D Pathogenic 6_17602863_C->T 6 17602863 17602863 C T snp 72.77 0/1 99 36 29 7 0.19 exonic rs80120441 FAM8A1 AU nonsynonymous SNV NM_016255 exon2 c.C755T p.A252V 0.0239 0.0216 0 D 1 D 0.062 D 1.0 D 1.0 D Pathogenic 6_17602895_A->G 6 17602895 17602895 A G snp 46.77 0/1 75 47 40 7 0.15 exonic rs79412549 FAM8A1 AU nonsynonymous SNV NM_016255 exon2 c.A787G p.I263V 0.0280 0.0275 0.32 T 1.000 D -1.081 T 0.153 T 0.03 T Pathogenic 6_17602910_G->A 6 17602910 17602910 G A snp 34.77 0/1 63 55 49 6 0.11 exonic rs144013791 FAM8A1 AU nonsynonymous SNV NM_016255 exon2 c.G802A p.V268I 0.0114 0.0081 0.49 T 0.943 D -1.102 T 0.843 T 0.336 P Pathogenic 6_17605106_A->C 6 17605106 17605106 A C snp 1692.77 0/1 99 135 66 69 0.51 intronic rs6916441 FAM8A1 AU NM_016255 exon3 c.4496-30A>C 0.248403 0.3373 0.271734 0.2849 0.3380 Uncertain 6_17606413_C->T 6 17606413 17606413 C T snp 381.77 1/1 30 11 0 11 1.0 intronic rs1969830 FAM8A1 AU NM_016255 exon4 c.5604+169C>T 0.996605 1 Uncertain 6_17616256_C->T 6 17616256 17616256 C T snp 860.77 0/1 99 54 20 34 0.63 UTR3 rs3777711 NUP153 AU 0.0924521 0.2788 Uncertain 6_17616493_C->G 6 17616493 17616493 C G snp 1665.77 1/1 99 52 0 52 1.0 intronic rs7765156 NUP153 AU NM_005124 exon1 c.85+81C>G 0.995807 1 Uncertain 6_17616513_-->G 6 17616513 17616513 - G indel 267.73 0/1 99 37 17 20 0.54 intronic rs3836949 NUP153 AU NM_005124 exon1 c.85+101insG 0.528355 0.5585 Uncertain 6_17616556_C->T 6 17616556 17616556 C T snp 248.77 0/1 99 20 12 8 0.4 intronic rs3777712 NUP153 AU NM_005124 exon1 c.85+144C>T 0.528155 0.7024 Uncertain 6_17617012_G->A 6 17617012 17617012 G A snp 148.77 0/1 99 11 5 6 0.55 intronic rs75715398 NUP153 AU NM_005124 exon2 c.599+86G>A 0.0932508 0.2827 Uncertain 6_17629616_G->A 6 17629616 17629616 G A snp 1756.77 0/1 99 158 82 76 0.48 exonic rs942467 NUP153 AU synonymous SNV NM_001278210 exon17 c.C2688T p.S896S 0.891973 0.7143 0.952092 0.9561 0.7142 Uncertain 6_17633061_C->T 6 17633061 17633061 C T snp 937.77 1/1 72 30 0 30 1.0 exonic rs2274136 NUP153 AU nonsynonymous SNV NM_001278210 exon16 c.G2353A p.A785T 0.814097 0.879 0.756266 0.7914 0.8891 0.62 T 0.001 P -0.897 T 0.001 T 0.002 T Pathogenic 6_17649651_G->T 6 17649651 17649651 G T snp 152.77 0/1 97 8 3 5 0.63 intronic rs74323776 NUP153 AU NM_005124 exon11 c.33204+120G>T 0.0129792 0.0635 Uncertain 6_17661742_T->A 6 17661742 17661742 T A snp 34.77 0/1 63 7 5 2 0.29 intronic rs76517776 NUP153 AU NM_005124 exon12 c.45556-141T>A 0.096246 0.2867 Uncertain 6_17661743_G->A 6 17661743 17661743 G A snp 269.8 1/1 21 8 0 8 1.0 intronic rs4716172 NUP153 AU NM_005124 exon12 c.45556-140G>A 0.996006 1 Uncertain 6_17665357_A->G 6 17665357 17665357 A G snp 149.77 0/1 99 9 4 5 0.56 intronic rs6929659 NUP153 AU NM_005124 exon14 c.49142-112A>G 0.515775 0.5466 Uncertain 6_17665479_G->C 6 17665479 17665479 G C snp 1593.77 0/1 99 139 71 68 0.49 exonic rs6906499 NUP153 AU nonsynonymous SNV NM_001278209 exon9 c.C1206G p.N402K 0.251198 0.3294 0.279179 0.2826 0.3196 1 T 0.000 P -0.929 T 0.0 T 0.0 T Pathogenic 6_17676120_G->A 6 17676120 17676120 G A snp 56.74 1/1 6 2 0 2 1.0 intronic rs78464598 NUP153 AU NM_005124 exon20 c.59674+119G>A 0.096246 0.2867 Uncertain 6_17688798_G->A 6 17688798 17688798 G A snp 1663.77 0/1 99 142 73 69 0.49 exonic rs1065057 NUP153 AU synonymous SNV NM_001278209 exon2 c.C163T p.L55L 0.271965 0.2431 0.265416 0.3154 0.2444 Uncertain 6_17764279_A->C 6 17764279 17764279 A C snp 258.77 0/1 99 22 11 11 0.5 UTR3 rs1044654 KIF13A AU 0.174121 0.1944 Uncertain 6_17764755_T->C 6 17764755 17764755 T C snp 2665.77 0/1 99 218 108 110 0.5 exonic rs2296197 KIF13A AU synonymous SNV NM_001105567 exon37 c.A4860G p.P1620P 0.173922 0.1944 0.178901 0.2215 0.1867 Uncertain 6_17777614_-->T 6 17777614 17777614 - T indel 814.92 0/1 5 100 8 92 0.92 intronic rs11396690 KIF13A AU NM_022113 exon6 c.13245+29insT 0.437101 0.3611 0.3691 0.2590 Uncertain 6_17777654_G->A 6 17777654 17777654 G A snp 480.77 0/1 99 32 16 16 0.5 intronic rs1886247 KIF13A AU NM_022113 exon6 c.13245+69G>A 0.212859 0.1944 Uncertain 6_17781450_G->A 6 17781450 17781450 G A snp 561.77 0/1 99 61 39 22 0.36 exonic rs942376 KIF13A AU synonymous SNV NM_001105567 exon29 c.C3588T p.S1196S 0.164137 0.2014 0.158292 0.2003 0.2010 1.0 P -1.066 T Likely benign 6_17781738_T->C 6 17781738 17781738 T C snp 69.77 0/1 30 4 1 3 0.75 intronic rs6911957 KIF13A AU NM_022113 exon10 c.17192+206T>C 0.224042 0.1954 Uncertain 6_17785948_A->G 6 17785948 17785948 A G snp 1612.77 1/1 99 52 1 51 0.98 intronic rs4716186 KIF13A AU NM_022113 exon12 c.21532+76A>G 0.981629 1 Uncertain 6_17787886_-->AACAAA 6 17787886 17787886 - AACAAA indel 683.73 0/1 99 21 12 9 0.43 intronic rs148516660 KIF13A AU NM_022113 exon13 c.23666-120insAACAAA 0.223842 0.1944 Uncertain 6_17790191_A->G 6 17790191 17790191 A G snp 1157.77 0/1 99 94 43 51 0.54 intronic rs2147211 KIF13A AU NM_022113 exon14 c.25801+50A>G 0.361222 0.1974 0.332093 0.3055 0.1745 Uncertain 6_17799575_A->G 6 17799575 17799575 A G snp 733.77 0/1 99 80 45 35 0.44 exonic rs3734235 KIF13A AU synonymous SNV NM_001105566 exon22 c.T2712C p.A904A 0.207668 0.1964 0.200580 0.2395 0.1797 1.000 P -0.986 T Likely benign 6_17799766_T->C 6 17799766 17799766 T C snp 306.78 1/1 24 10 0 10 1.0 intronic rs6459573 KIF13A AU NM_022113 exon18 c.35330+96T>C 0.923323 0.9891 Uncertain 6_17809199_G->A 6 17809199 17809199 G A snp 1716.77 1/1 99 63 0 63 1.0 intronic rs6913612 KIF13A AU NM_022113 exon22 c.44821+38G>A 0.981629 1 0.983751 0.9948 1 Uncertain 6_17817235_C->G 6 17817235 17817235 C G snp 349.78 1/1 27 9 0 9 1.0 intronic rs9383327 KIF13A AU NM_022113 exon23 c.52910-15C>G 0.925919 0.9891 0.911144 0.9266 0.9960 Uncertain 6_17817519_C->T 6 17817519 17817519 C T snp 571.77 0/1 99 61 36 25 0.41 intronic rs41267720 KIF13A AU NM_022113 exon23 c.53124+55C>T 0.217851 0.2063 Uncertain 6_17821964_C->T 6 17821964 17821964 C T snp 950.77 0/1 99 91 50 41 0.45 intronic rs13211637 KIF13A AU NM_022113 exon24 c.61658-4034C>T 0.171526 0.2004 Uncertain 6_17821965_A->G 6 17821965 17821965 A G snp 2525.77 1/1 99 92 0 92 1.0 intronic rs12205910 KIF13A AU NM_022113 exon24 c.61658-4033A>G 0.450879 0.4097 Uncertain 6_17825888_T->C 6 17825888 17825888 T C snp 459.77 1/1 36 13 0 13 1.0 intronic rs7771879 KIF13A AU NM_022113 exon24 c.61658-110T>C 0.448682 0.4097 Uncertain 6_17831419_G->A 6 17831419 17831419 G A snp 2306.77 0/1 99 250 155 95 0.38 exonic rs2277080 KIF13A AU synonymous SNV NM_001105566 exon13 c.C1314T p.S438S 0.239417 0.2004 0.252530 0.2740 0.1766 Uncertain 6_17834198_T->G 6 17834198 17834198 T G snp 3263.77 1/1 99 121 0 121 1.0 exonic rs4716189 KIF13A AU synonymous SNV NM_001105566 exon12 c.A1260C p.I420I 0.436701 0.4018 0.437100 0.5069 0.3992 Uncertain 6_17834213_T->C 6 17834213 17834213 T C snp 3600.77 1/1 99 140 0 140 1.0 exonic rs4716190 KIF13A AU synonymous SNV NM_001105566 exon12 c.A1245G p.R415R 0.46905 0.4018 0.488284 0.5340 0.3934 Uncertain 6_17834316_T->C 6 17834316 17834316 T C snp 3541.77 1/1 99 134 0 134 1.0 intronic rs4716191 KIF13A AU NM_022113 exon28 c.69962+14T>C 0.435104 0.4018 0.436208 0.5185 0.4056 Uncertain 6_17834328_G->A 6 17834328 17834328 G A snp 3388.77 1/1 99 131 0 131 1.0 intronic rs4716192 KIF13A AU NM_022113 exon28 c.69962+26G>A 0.435703 0.4038 0.436494 0.5095 0.3952 Uncertain 6_17834346_A->G 6 17834346 17834346 A G snp 2955.77 1/1 99 107 0 107 1.0 intronic rs4716193 KIF13A AU NM_022113 exon28 c.69962+44A>G 0.435503 0.4028 0.433282 0.4824 0.3647 Uncertain 6_17836994_A->G 6 17836994 17836994 A G snp 46.74 1/1 6 2 0 2 1.0 intronic rs12525646 KIF13A AU NM_022113 exon29 c.72768-114A>G 0.447284 0.4048 Uncertain 6_17855864_G->C 6 17855864 17855864 G C snp 721.77 0/1 99 64 32 32 0.5 intronic rs624105 KIF13A AU NM_022113 exon34 c.91508+16G>C 0.813898 0.7857 0.837907 0.7985 0.7887 Uncertain 6_17882140_A->T 6 17882140 17882140 A T snp 108.77 0/1 99 9 5 4 0.44 intronic rs7757737 KIF13A AU NM_022113 exon36 c.109328+8472A>T 0.757588 0.7867 0.8333 0.8214 0.54 T 0.0 P -0.968 T Uncertain 6_17951669_A->- 6 17951669 17951669 A - indel 53.73 0/1 78 17 9 8 0.47 intronic rs367652478 KIF13A AU NM_001243423 exon1 c.67+9delA 0.194888 0.1974 0.4409 0.4113 Uncertain 6_17987229_T->C 6 17987229 17987229 T C snp 3166.77 0/1 99 250 120 130 0.52 intronic rs3734237 KIF13A AU NM_022113 exon38 c.222944-55T>C 0.140176 0.1954 0.094393 Uncertain 6_18122506_G->A 6 18122506 18122506 G A snp 1515.77 0/1 99 128 68 60 0.47 exonic rs10949483 NHLRC1 AR nonsynonymous SNV NM_198586 exon1 c.C332T p.P111L 0.342851 0.3869 0.337009 0.4211 0.4314 0.19 T 0.070 P 0.499 D 0.164 T 0.04 T CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=criteria_provided\x2c_multiple_submitters\x2c_no_conflicts|criteria_provided\x2c_single_submitter;CLNACC=RCV000117782.3|RCV000127205.1;CLNDSDB=MedGen|MedGen;CLNDSDBID=CN169374|CN221809 ID=CM065338;DIS=Myoclonic epilepsy of Lafora;TAG=DM?;PUB=16529633 DM? Pathogenic 6_18134008_-->AA 6 18134008 18134008 - AA indel 380.74 1/1 27 26 1 25 0.96 intronic rs113956700 TPMT AR NM_000367 exon3 c.3136-26insAA 0.0223642 0.0298 0.0635 0.0593 Uncertain 6_18134021_C->A 6 18134021 18134021 C A snp 639.77 1/1 48 20 1 19 0.95 intronic rs2842949 TPMT AR NM_000367 exon3 c.3136-13C>A 0.585064 0.75 0.451484 0.6115 0.6949 Uncertain 6_18139214_G->A 6 18139214 18139214 G A snp 1731.77 1/1 99 63 0 63 1.0 exonic rs2842934 TPMT AR synonymous SNV NM_000367 exon6 c.C474T p.I158I 0.752995 0.7619 0.794294 0.7633 0.7748 Uncertain 6_18139965_A->- 6 18139965 18139965 A - indel 573.73 1/1 57 21 0 21 1.0 intronic rs375276814 TPMT AR NM_000367 exon5 c.9050+17delA 0.6526 0.7739 Uncertain 6_18148019_G->A 6 18148019 18148019 G A snp 654.77 1/1 48 22 0 22 1.0 intronic rs4449636 TPMT AR NM_000367 exon7 c.17155-34G>A 0.534145 0.377 0.581590 0.5203 0.3573 Uncertain 6_18148247_T->A 6 18148247 18148247 T A snp 644.77 1/1 48 22 0 22 1.0 intronic rs12529220 TPMT AR NM_000367 exon7 c.17248+101T>A 0.534345 0.377 Uncertain 6_18149526_C->T 6 18149526 18149526 C T snp 399.77 1/1 30 13 0 13 1.0 intronic rs3930696 TPMT AR NM_000367 exon8 c.18504+124C>T 0.535543 0.376 Uncertain 6_18166802_T->G 6 18166802 18166802 T G snp 141.03 1/1 12 5 0 5 1.0 intronic rs912528 KDM1B AU NM_153042 exon6 c.6483+193T>G 0.886781 0.9137 Uncertain 6_18171477_G->A 6 18171477 18171477 G A snp 2558.77 1/1 99 79 0 79 1.0 intronic rs1011620 KDM1B AU NM_153042 exon7 c.11467-116G>A 0.855232 0.9147 Uncertain 6_18187916_C->T 6 18187916 18187916 C T snp 1383.77 1/1 99 40 0 40 1.0 intronic rs372534 KDM1B AU NM_153042 exon8 c.25915+1875C>T 0.840256 0.6548 Uncertain 6_18197750_C->T 6 18197750 18197750 C T snp 412.77 0/1 99 42 27 15 0.36 intronic rs76815350 KDM1B AU NM_153042 exon10 c.37691-67C>T 0.00698882 0.0129 Uncertain 6_18201961_T->C 6 18201961 18201961 T C snp 2102.77 1/1 99 63 0 63 1.0 intronic rs214612 KDM1B AU NM_153042 exon11 c.40681+1154T>C 0.841653 0.6607 Uncertain 6_18208188_G->C 6 18208188 18208188 G C snp 494.77 1/1 39 13 0 13 1.0 intronic rs214597 KDM1B AU NM_153042 exon13 c.48236-174G>C 0.756589 0.5228 Uncertain 6_18215303_T->C 6 18215303 18215303 T C snp 3411.77 1/1 99 133 0 133 1.0 exonic rs214585 KDM1B AU synonymous SNV NM_153042 exon16 c.T1479C p.D493D 0.974042 1 0.956174 0.9567 0.9980 1.000 P -1.088 T Likely benign 6_18368880_G->A 6 18368880 18368880 G A snp 169.77 0/1 99 22 15 7 0.32 intergenic rs11757266 DEK AU 0.262181 0.4177 Uncertain 6_18387692_A->G 6 18387692 18387692 A G snp 420.77 0/1 99 31 13 18 0.58 UTR5 rs9396858 RNF144B AU 0.265176 0.4177 Uncertain 6_18387815_A->C 6 18387815 18387815 A C snp 1373.77 0/1 99 117 58 59 0.5 UTR5 rs764885 RNF144B AU 0.173722 0.2143 0.129825 0.2231 0.3370 Uncertain 6_18399750_T->C 6 18399750 18399750 T C snp 1109.77 0/1 99 105 63 42 0.4 UTR5 rs2296198 RNF144B AU 0.683107 0.7817 0.658312 0.7345 0.7716 Uncertain 6_18406387_G->A 6 18406387 18406387 G A snp 2157.77 1/1 99 69 0 69 1.0 intronic rs6925570 RNF144B AU NM_182757 exon2 c.165+6457G>A 0.604233 0.6736 Uncertain 6_18439739_T->A 6 18439739 18439739 T A snp 768.77 1/1 60 21 0 21 1.0 intronic rs2277081 RNF144B AU NM_182757 exon4 c.40149-175T>A 0.343051 0.5208 Uncertain 6_18463823_A->G 6 18463823 18463823 A G snp 48.74 1/1 6 2 0 2 1.0 intronic rs574505 RNF144B AU NM_182757 exon7 c.63846+212A>G 0.97504 1 Uncertain 6_19837966_T->C 6 19837966 19837966 T C snp 393.77 0/1 99 22 7 15 0.68 UTR5 rs1047316 ID4 AU 0.380591 0.249 0 . Uncertain 6_19837969_A->G 6 19837969 19837969 A G snp 391.77 0/1 99 22 7 15 0.68 UTR5 rs12662234 ID4 AU 0.380591 0.249 0 . Uncertain 6_19838990_C->G 6 19838990 19838990 C G snp 60.77 0/1 89 11 8 3 0.27 intronic rs9460423 ID4 AU NM_001546 exon2 c.888+117C>G 0.155351 0.247 Uncertain 6_20109696_A->C 6 20109696 20109696 A C snp 501.77 0/1 99 65 45 20 0.31 intronic rs2457334 MBOAT1 AU NM_001080480 exon2 c.7312-132A>C 0.409545 0.4325 Uncertain 6_20110043_C->G 6 20110043 20110043 C G snp 419.77 0/1 99 25 12 13 0.52 intronic rs77627773 MBOAT1 AU NM_001080480 exon2 c.7464+63C>G 0.15016 0.2371 Uncertain 6_20124860_G->A 6 20124860 20124860 G A snp 399.77 0/1 99 35 18 17 0.49 intronic rs949550 MBOAT1 AU NM_001080480 exon6 c.22315+29G>A 0.274561 0.4762 0.206674 0.2654 0.4851 Uncertain 6_20126610_T->C 6 20126610 20126610 T C snp 321.77 0/1 99 29 18 11 0.38 intronic rs34292360 MBOAT1 AU NM_001080480 exon7 c.24231-137T>C 0.184904 0.3919 Uncertain 6_20126656_C->T 6 20126656 20126656 C T snp 934.77 0/1 99 87 49 38 0.44 intronic rs2483766 MBOAT1 AU NM_001080480 exon7 c.24231-91C>T 0.195487 0.3919 Uncertain 6_20131499_C->G 6 20131499 20131499 C G snp 244.77 0/1 99 20 12 8 0.4 intronic rs34263705 MBOAT1 AU NM_001080480 exon9 c.28914+69C>G 0.275359 0.504 0.189663 Uncertain 6_20144637_G->A 6 20144637 20144637 G A snp 222.84 1/1 18 6 0 6 1.0 intronic rs1202195 MBOAT1 AU NM_001080480 exon10 c.42030+91G>A 0.999401 1 Uncertain 6_20151341_T->C 6 20151341 20151341 T C snp 619.77 0/1 99 75 49 26 0.35 intronic rs149685052 MBOAT1 AU NM_001080480 exon11 c.48899-74T>C 0.00299521 0.0149 Uncertain 6_20153059_TTTGT->- 6 20153059 20153063 TTTGT - indel 1819.73 1/1 58 54 1 53 0.98 intronic rs113824810 MBOAT1 AU NM_001080480 exon12 c.50484+59_50484+63delTTTGT 0.51897 0.5268 Uncertain 6_20212200_-->ACAC 6 20212200 20212200 - ACAC indel 542.74 1/1 30 12 0 12 1.0 intronic rs553586025 MBOAT1 AU NM_001080480 exon13 c.109850-166insACAC 0.406749 0.498 Uncertain 6_20546826_C->T 6 20546826 20546826 C T snp 90.28 1/1 9 3 0 3 1.0 intronic rs45559831 CDKAL1 AD NM_017774 exon3 c.173+72C>T 0.299321 0.5446 Uncertain 6_20599628_C->T 6 20599628 20599628 C T snp 3311.77 1/1 99 121 0 121 1.0 intronic rs9366357 CDKAL1 AD NM_017774 exon5 c.102942-49895C>T 0.373802 0.5496 0.3857 0.5404 Uncertain 6_20739907_C->T 6 20739907 20739907 C T snp 1442.77 0/1 99 114 50 64 0.56 intronic rs4710942 CDKAL1 AD NM_017774 exon6 c.193265+61C>T 0.221046 0.3492 Uncertain 6_20740019_C->T 6 20740019 20740019 C T snp 113.77 0/1 99 8 4 4 0.5 intronic rs4710943 CDKAL1 AD NM_017774 exon6 c.193265+173C>T 0.224241 0.3472 Uncertain 6_20758704_A->G 6 20758704 20758704 A G snp 310.77 0/1 51 11 2 9 0.82 intronic rs2820000 CDKAL1 AD NM_017774 exon7 c.212244-121A>G 0.446086 0.4673 Uncertain 6_20758809_T->- 6 20758809 20758809 T - indel 144.73 0/1 99 38 24 14 0.37 intronic rs34291318 CDKAL1 AD NM_017774 exon7 c.212244-16delT 0.3885 0.4721 Uncertain 6_20758943_G->T 6 20758943 20758943 G T snp 543.77 0/1 99 35 12 23 0.66 intronic rs2820001 CDKAL1 AD NM_017774 exon7 c.212293+69G>T 0.777556 0.6637 0.855891 Uncertain 6_20846530_C->T 6 20846530 20846530 C T snp 46.74 1/1 6 2 0 2 1.0 intronic rs6941354 CDKAL1 AD NM_017774 exon9 c.299828+121C>T 0.970248 1 Uncertain 6_21201493_G->A 6 21201493 21201493 G A snp 3911.77 1/1 99 139 0 139 1.0 exonic rs9465994 CDKAL1 AD synonymous SNV NM_017774 exon15 c.G1536A p.S512S 0.53155 0.4018 0.555590 0.4785 0.4047 Uncertain 6_21231007_G->A 6 21231007 21231007 G A snp 70.77 0/1 99 14 10 4 0.29 intronic rs9460612 CDKAL1 AD NM_017774 exon16 c.684497-71G>A 0.406749 0.2401 Uncertain 6_21231034_C->G 6 21231034 21231034 C G snp 183.77 0/1 99 17 10 7 0.41 intronic rs12200511 CDKAL1 AD NM_017774 exon16 c.684497-44C>G 0.186502 0.1835 0.153592 0.2081 0.1865 Uncertain 6_22146816_C->T 6 22146816 22146816 C T snp 43.77 0/1 68 4 2 2 0.5 ncRNA_intronic rs55997687 CASC15 AU Uncertain 6_22146818_A->T 6 22146818 22146818 A T snp 43.77 0/1 70 4 2 2 0.5 ncRNA_intronic CASC15 AU Uncertain 6_22292976_A->T 6 22292976 22292976 A T snp 1597.77 1/1 99 54 0 54 1.0 intronic rs1205955 PRL AU NM_001163558 exon3 c.5244+102A>T 0.739816 0.8909 Uncertain 6_22570064_C->T 6 22570064 22570064 C T snp 2958.77 0/1 99 246 115 131 0.53 exonic rs2076506 HDGFL1 AU nonsynonymous SNV NM_138574 exon1 c.C260T p.T87M 0.190695 0.3879 0.077822 0.1900 0.4304 0.08 T 0.0 P -0.993 T 0.962 D 0.272 D Pathogenic 6_22570189_T->C 6 22570189 22570189 T C snp 471.77 0/1 99 31 13 18 0.58 exonic rs6922960 HDGFL1 AU synonymous SNV NM_138574 exon1 c.T385C p.L129L 0.23762 0.1706 0.241482 0.2836 0.2137 Uncertain 6_22570245_G->A 6 22570245 22570245 G A snp 108.77 0/1 99 9 4 5 0.56 exonic rs6900627 HDGFL1 AU synonymous SNV NM_138574 exon1 c.G441A p.R147R 0.172125 0.001 0.224339 0.2398 0.0029 Uncertain 6_24174955_G->C 6 24174955 24174955 G C snp 3055.77 1/1 99 116 0 116 1.0 UTR3 rs9358755 DCDC2 AR 0.75 0.9722 0.702906 0.8205 0.9728 Uncertain 6_24175124_T->C 6 24175124 24175124 T C snp 555.77 0/1 99 40 19 21 0.53 intronic rs3789219 DCDC2 AR NM_016356 exon1 c.105+62T>C 0.279153 0.5754 Uncertain 6_24205177_-->A 6 24205177 24205177 - A indel 1001.73 0/1 99 96 53 43 0.45 intronic rs200062369 DCDC2 AR NM_016356 exon3 c.30272-52insA 0.00559105 0.0228 Uncertain 6_24291203_T->C 6 24291203 24291203 T C snp 5084.77 1/1 99 197 0 197 1.0 exonic rs2274305 DCDC2 AR nonsynonymous SNV NM_016356 exon5 c.A661G p.S221G 0.516973 0.7827 0.482470 0.6393 0.7965 0.61 T 1.000 P -0.923 T 0.0 T 0.0 T ID=CM131324;DIS=Respiratory disease, aspirin-exacerbated;TAG=DP;PUB=23180272 DP Pathogenic 6_24302087_G->A 6 24302087 24302087 G A snp 5768.77 1/1 99 209 0 209 1.0 intronic rs807703 DCDC2 AR NM_016356 exon7 c.127117+13G>A 0.983227 1 0.983085 0.9950 0.9999 Uncertain 6_24353280_G->A 6 24353280 24353280 G A snp 303.78 1/1 24 9 0 9 1.0 intronic rs793720 DCDC2 AR NM_016356 exon9 c.178839-516G>A 0.579073 0.8056 Uncertain 6_24353742_A->G 6 24353742 24353742 A G snp 1405.77 1/1 99 51 1 50 0.98 intronic rs813227 DCDC2 AR NM_016356 exon9 c.178839-54A>G 0.395168 0.4127 0.447611 Uncertain 6_24418348_G->A 6 24418348 24418348 G A snp 936.77 1/1 66 40 0 40 1.0 exonic rs2793422 MRS2 AU synonymous SNV NM_001286266 exon6 c.G723A p.E241E 0.228235 0.2272 0.301861 0.3185 0.2213 1.0 P -0.991 T Likely benign 6_24437445_G->A 6 24437445 24437445 G A snp 5089.77 1/1 99 172 0 172 1.0 exonic rs1772256 GPLD1 AU nonsynonymous SNV NM_001503 exon21 c.C2093T p.T698I 0.928315 1 0.913886 0.9673 0.9993 0.4 T 0.0 P -1.078 T 0.022 T 0.024 T Pathogenic 6_24437458_T->C 6 24437458 24437458 T C snp 4896.77 1/1 99 169 2 167 0.99 exonic rs1042303 GPLD1 AU nonsynonymous SNV NM_001503 exon21 c.A2080G p.M694V 0.30611 0.253 0.402737 0.3875 0.2419 0.63 T 0.995 P -1.069 T 0.0 T 0.001 T Pathogenic 6_24437638_A->T 6 24437638 24437638 A T snp 578.28 1/1 9 17 1 16 0.94 intronic rs793673 GPLD1 AU NM_001503 exon5 c.8258+121A>T 0.635583 0.4177 Uncertain 6_24445718_A->G 6 24445718 24445718 A G snp 677.77 1/1 51 20 0 20 1.0 intronic rs793714 GPLD1 AU NM_001503 exon6 c.16514-55A>G 0.905351 0.8899 Uncertain 6_24446183_C->T 6 24446183 24446183 C T snp 135.03 1/1 12 4 0 4 1.0 intronic rs793713 GPLD1 AU NM_001503 exon7 c.16800+124C>T 0.914137 0.8909 Uncertain 6_24448061_A->C 6 24448061 24448061 A C snp 289.78 1/1 24 8 0 8 1.0 intronic rs796985 GPLD1 AU NM_001503 exon9 c.18845-43A>C 0.563698 0.4345 0.712594 0.7246 0.4382 Uncertain 6_24460679_T->C 6 24460679 24460679 T C snp 514.77 1/1 39 14 0 14 1.0 intronic rs2793434 GPLD1 AU NM_001503 exon14 c.31368+52T>C 0.39397 0.3661 0.427668 0.4328 0.3775 Uncertain 6_24460707_A->T 6 24460707 24460707 A T snp 174.9 1/1 15 5 0 5 1.0 intronic rs2744576 GPLD1 AU NM_001503 exon14 c.31368+80A>T 0.390176 0.3661 Uncertain 6_24463055_A->G 6 24463055 24463055 A G snp 3050.77 1/1 99 118 0 118 1.0 intronic rs2793442 GPLD1 AU NM_001503 exon15 c.33764+32A>G 0.593051 0.5337 0.5461 0.5642 Uncertain 6_24467633_C->T 6 24467633 24467633 C T snp 2359.77 1/1 99 80 0 80 1.0 intronic rs2793445 GPLD1 AU NM_001503 exon18 c.38243+131C>T 0.804113 0.5784 Uncertain 6_24474018_G->C 6 24474018 24474018 G C snp 989.77 1/1 72 31 0 31 1.0 intronic rs35864956 GPLD1 AU NM_001503 exon20 c.44636+123G>C 0.251997 0.3095 Uncertain 6_24475518_ATTA->- 6 24475518 24475521 ATTA - indel 2570.73 1/1 99 42 0 42 1.0 intronic rs66707391 GPLD1 AU NM_001503 exon21 c.46200+59_46200+62delATTA Uncertain 6_24476553_G->A 6 24476553 24476553 G A snp 2464.77 1/1 99 100 2 98 0.98 intronic rs760904 GPLD1 AU NM_001503 exon22 c.47247+47G>A 0.599042 0.4692 0.760641 0.6920 0.4637 Uncertain 6_24476694_G->A 6 24476694 24476694 G A snp 59.74 1/1 6 3 0 3 1.0 intronic rs2817204 GPLD1 AU NM_001503 exon22 c.47247+188G>A 0.798323 0.5764 Uncertain 6_24547650_T->C 6 24547650 24547650 T C snp 294.78 1/1 24 8 0 8 1.0 intronic rs34829630 KIAA0319 AD NM_001168375 exon1 c.179+79T>C 0.28774 0.2351 Uncertain 6_24556675_A->G 6 24556675 24556675 A G snp 303.78 1/1 24 8 0 8 1.0 intronic rs807538 KIAA0319 AD NM_001168375 exon4 c.9442-159A>G 0.766973 0.4494 Uncertain 6_24559433_A->G 6 24559433 24559433 A G snp 224.84 1/1 18 6 0 6 1.0 intronic rs3903801 KIAA0319 AD NM_001168375 exon5 c.11991+50A>G 0.246605 0.2202 0.342534 0.3742 0.2214 Uncertain 6_24578272_G->A 6 24578272 24578272 G A snp 1146.77 0/1 99 82 33 49 0.6 intronic rs2760157 KIAA0319 AD NM_001168375 exon13 c.30945-65G>A 0.357827 0.5437 Uncertain 6_24580185_-->A 6 24580185 24580185 - A indel 1284.73 0/1 99 110 49 61 0.55 intronic rs3215493 KIAA0319 AD NM_001168375 exon14 c.32786+7insA 0.284545 0.5446 0.166374 0.2567 0.5435 Uncertain 6_24582702_C->T 6 24582702 24582702 C T snp 40.79 0/1 23 4 2 2 0.5 intronic rs78307015 KIAA0319 AD NM_001168375 exon16 c.35182+128C>T Uncertain 6_24583804_T->A 6 24583804 24583804 T A snp 1024.77 0/1 99 114 68 46 0.4 intronic rs6901322 KIAA0319 AD NM_001168375 exon17 c.36439-27T>A 0.52496 0.747 0.375288 0.3791 0.7657 Uncertain 6_24588884_C->T 6 24588884 24588884 C T snp 303.77 0/1 99 41 25 16 0.39 exonic rs4504469 KIAA0319 AD nonsynonymous SNV NM_014809 exon4 c.G931A p.A311T 0.205871 0.1121 0.299400 0.3277 0.1341 0.59 T 0.0 P -0.912 T 0.002 T 0.002 T ID=CM057333;DIS=Dyslexia, association with;TAG=DP;PUB=15717286 DP Pathogenic 6_24596004_C->T 6 24596004 24596004 C T snp 158.77 0/1 92 9 3 6 0.67 intronic KIAA0319 AD NM_001168375 exon19 c.48708-96C>T Uncertain 6_24596076_C->G 6 24596076 24596076 C G snp 826.77 0/1 99 46 17 29 0.63 intronic rs59166521 KIAA0319 AD NM_001168375 exon19 c.48708-24C>G 0.189297 0.4464 0.038290 0.0829 0.4282 ID=COSN167710;OCCURENCE=1(large_intestine),1(endometrium) Uncertain 6_24596478_T->G 6 24596478 24596478 T G snp 8075.77 1/1 99 250 0 250 1.0 exonic rs4576240 KIAA0319 AD nonsynonymous SNV NM_014809 exon3 c.A424C p.T142P 0.939896 0.9861 0.904275 0.9144 0.9920 0.32 T 0.0 P -0.917 T 0.0 T 0.0 T Pathogenic 6_24651320_C->G 6 24651320 24651320 C G snp 778.77 0/1 99 60 28 32 0.53 intronic rs3181245 TDP2 AR NM_016614 exon1 c.282+23C>G 0.364617 0.2341 0.471380 0.4189 0.2260 Uncertain 6_24653273_G->C 6 24653273 24653273 G C snp 3041.77 0/1 99 246 121 125 0.51 exonic rs2294689 TDP2 AR nonsynonymous SNV NM_016614 exon6 c.C745G p.Q249E 0.24401 0.4623 0.098262 0.1300 0.4271 0.92 T 0.822 P -0.881 T 0.091 T 0.105 T Pathogenic 6_24653376_G->A 6 24653376 24653376 G A snp 1197.77 0/1 99 101 53 48 0.48 exonic rs1129644 TDP2 AR synonymous SNV NM_016614 exon6 c.C642T p.N214N 0.805112 0.8661 0.764186 0.7393 0.8476 Uncertain 6_24653546_G->C 6 24653546 24653546 G C snp 83.77 0/1 69 5 2 3 0.6 intronic rs2294688 TDP2 AR NM_016614 exon2 c.2366+165G>C 0.244609 0.4623 Uncertain 6_24666739_C->T 6 24666739 24666739 C T snp 1707.77 0/1 99 127 63 64 0.5 intronic rs2073013 TDP2 AR NM_016614 exon6 c.15738-14C>T 0.197684 0.4623 0.041827 0.1018 0.4281 Uncertain 6_24667205_-->CC 6 24667205 24667205 - CC indel 1697.73 0/1 99 69 33 36 0.52 upstream rs17243164 ACOT13 AU 0.805312 0.8661 0.7398 0.8468 Uncertain 6_24687765_A->G 6 24687765 24687765 A G snp 1066.77 0/1 99 94 49 45 0.48 UTR5 rs926529 ACOT13 AU 0.802516 0.8651 Uncertain 6_24687999_T->C 6 24687999 24687999 T C snp 37.77 0/1 66 4 2 2 0.5 intronic rs926528 ACOT13 AU NM_001160094 exon2 c.12+78T>C 0.805711 0.8651 Uncertain 6_24709202_A->G 6 24709202 24709202 A G snp 885.77 0/1 99 80 47 33 0.41 intronic rs2294686 C6orf62 AU NM_030939 exon2 c.2775+63A>G 0.224042 0.4901 Uncertain 6_24780892_A->C 6 24780892 24780892 A C snp 1768.77 0/1 99 146 66 80 0.55 exonic rs1923185 GMNN AU nonsynonymous SNV NM_001251989 exon3 c.A53C p.N18T 0.211462 0.5397 0.050438 0.1209 0.5341 0.35 T 0.846 P -1.006 T 0.714 T 0.596 P Pathogenic 6_24797647_A->G 6 24797647 24797647 A G snp 1047.77 0/1 99 88 46 42 0.48 exonic rs2251702 C6orf229 AU synonymous SNV NM_001282492 exon2 c.T684C p.H228H 0.521765 0.745 0.3775 0.7687 Uncertain 6_24799278_C->T 6 24799278 24799278 C T snp 56.74 1/1 6 2 0 2 1.0 upstream rs12214068 C6orf229 AU 0.23742 0.1329 Uncertain 6_24806594_C->T 6 24806594 24806594 C T snp 1613.77 0/1 99 137 72 65 0.47 UTR3 rs9358799 FAM65B AR 0.357827 0.1885 0.462768 0.4608 0.2016 Uncertain 6_24806739_-->TT 6 24806739 24806739 - TT indel 1842.73 0/1 99 72 31 41 0.57 intronic rs5875006 FAM65B AR NM_014722 exon1 c.101+38insTT 0.357628 0.1885 0.439356 0.4594 0.2003 Uncertain 6_24806752_A->C 6 24806752 24806752 A C snp 815.77 0/1 99 53 25 28 0.53 intronic rs4074420 FAM65B AR NM_014722 exon1 c.101+51A>C 0.357827 0.1885 Uncertain 6_24806777_T->A 6 24806777 24806777 T A snp 639.77 0/1 99 35 13 22 0.63 intronic rs9379689 FAM65B AR NM_014722 exon1 c.101+76T>A 0.358027 0.1885 Uncertain 6_24809771_A->G 6 24809771 24809771 A G snp 679.77 1/1 51 22 0 22 1.0 intronic rs9379692 FAM65B AR NM_014722 exon2 c.3344-173A>G 0.735024 0.875 Uncertain 6_24809853_C->T 6 24809853 24809853 C T snp 3271.77 1/1 99 107 0 107 1.0 intronic rs9393587 FAM65B AR NM_014722 exon2 c.3344-91C>T 0.735024 0.875 Uncertain 6_24809874_A->C 6 24809874 24809874 A C snp 1986.77 0/1 99 142 65 77 0.54 intronic rs55640933 FAM65B AR NM_014722 exon2 c.3344-70A>C 0.391973 0.6905 Uncertain 6_24809881_T->A 6 24809881 24809881 T A snp 4495.77 1/1 99 155 0 155 1.0 intronic rs9358801 FAM65B AR NM_014722 exon2 c.3344-63T>A 0.735024 0.875 Uncertain 6_24818785_A->G 6 24818785 24818785 A G snp 730.77 0/1 99 56 24 32 0.57 exonic rs9358802 FAM65B AR synonymous SNV NM_014722 exon21 c.T3000C p.A1000A 0.390176 0.6944 0.278800 0.3678 0.6795 Uncertain 6_24825511_A->G 6 24825511 24825511 A G snp 1590.77 1/1 99 53 0 53 1.0 exonic rs9358804 FAM65B AR synonymous SNV NM_014722 exon20 c.T2874C p.S958S 0.753994 0.9633 0.737845 0.8078 0.9534 Uncertain 6_24825637_C->T 6 24825637 24825637 C T snp 1334.77 0/1 99 132 74 58 0.44 exonic rs188800315 FAM65B AR synonymous SNV NM_014722 exon20 c.G2748A p.L916L 0.000599042 0.003 4.386e-05 0.0016 Uncertain 6_24828318_C->T 6 24828318 24828318 C T snp 811.77 1/1 60 24 0 24 1.0 intronic rs35374726 FAM65B AR NM_014722 exon5 c.21764-46C>T 0.588458 0.7718 0.562637 0.6420 0.7643 Uncertain 6_24828560_A->G 6 24828560 24828560 A G snp 1057.77 0/1 99 83 38 45 0.54 intronic rs45437991 FAM65B AR NM_014722 exon5 c.21923+37A>G 0.175319 0.0903 0.266754 0.2805 0.1073 Uncertain 6_24828567_CATT->- 6 24828567 24828570 CATT - indel 2254.73 ./1 99 78 0 78 1.0 intronic rs66524979 FAM65B AR NM_014722 exon5 c.21923+44_21923+47delCATT 0.17472 0.0903 0.219462 0.2495 0.1053 Uncertain 6_24828566_-->CATT 6 24828566 24828566 - CATT indel 2254.73 ./1 99 78 0 78 1.0 intronic rs10666595 FAM65B AR NM_014722 exon5 c.21923+43insCATT 0.343251 0.5655 0.3058 0.6316 Uncertain 6_24836161_C->A 6 24836161 24836161 C A snp 307.78 1/1 24 9 0 9 1.0 intronic rs6901565 FAM65B AR NM_014722 exon8 c.29499+62C>A 0.815695 0.9544 Uncertain 6_24848226_C->G 6 24848226 24848226 C G snp 804.77 0/1 99 70 35 35 0.5 intronic rs184215456 FAM65B AR NM_015864 exon3 c.8431-26C>G 0.000399361 0.002 9.98e-05 0.0013 Uncertain 6_24850715_A->G 6 24850715 24850715 A G snp 161.77 0/1 99 22 16 6 0.27 intronic rs7761191 FAM65B AR NM_015864 exon5 c.11003-109A>G 0.804912 0.9067 Uncertain 6_24852751_C->A 6 24852751 24852751 C A snp 1131.77 0/1 99 106 56 50 0.47 intronic rs9467333 FAM65B AR NM_015864 exon6 c.12981-51C>A 0.190495 0.2331 0.160315 Uncertain 6_24852962_T->C 6 24852962 24852962 T C snp 742.77 0/1 99 63 34 29 0.46 intronic rs4421189 FAM65B AR NM_015864 exon6 c.13025+116T>C 0.185104 0.2341 Uncertain 6_24865775_C->G 6 24865775 24865775 C G snp 523.77 0/1 99 40 21 19 0.47 intronic FAM65B AR NM_015864 exon8 c.25857+97C>G Uncertain 6_24869300_T->C 6 24869300 24869300 T C snp 1736.77 0/1 99 172 91 81 0.47 intronic rs2817747 FAM65B AR NM_015864 exon9 c.29500-21T>C 0.404153 0.2857 0.401034 0.4097 0.3320 Uncertain 6_24871021_C->A 6 24871021 24871021 C A snp 1972.77 0/1 99 215 124 91 0.42 intronic rs2817748 FAM65B AR NM_015864 exon10 c.31272-72C>A 0.329473 0.256 0.324135 Uncertain 6_24874152_A->C 6 24874152 24874152 A C snp 38.77 0/1 67 5 3 2 0.4 intronic rs35583219 FAM65B AR NM_015864 exon12 c.34206+125A>C 0.108427 0.0704 Uncertain 6_25084691_C->T 6 25084691 25084691 C T snp 3116.77 1/1 99 110 0 110 1.0 ncRNA_intronic rs303007 CMAHP AU 0.839657 0.869 0.8457 0.8642 Uncertain 6_25084718_A->G 6 25084718 25084718 A G snp 4217.77 1/1 99 148 0 148 1.0 ncRNA_exonic rs303006 CMAHP AU 0.841653 0.869 0.8492 0.8642 0.81 T 0.0 P -1.035 T Uncertain 6_25092031_T->A 6 25092031 25092031 T A snp 639.77 1/1 48 18 0 18 1.0 ncRNA_intronic rs9654585 CMAHP AU 0.719249 0.8562 Uncertain 6_25097450_T->C 6 25097450 25097450 T C snp 2821.77 1/1 99 91 0 91 1.0 ncRNA_intronic rs392852 CMAHP AU 0.82508 0.872 0.8439 0.8663 Uncertain 6_25106745_A->G 6 25106745 25106745 A G snp 4181.77 1/1 99 150 0 150 1.0 ncRNA_intronic rs2295737 CMAHP AU 0.590455 0.8393 0.7059 0.8182 0.08 T 0.000 P -0.816 T Uncertain 6_25106783_G->A 6 25106783 25106783 G A snp 2937.77 1/1 99 94 0 94 1.0 ncRNA_intronic rs1923195 CMAHP AU 0.638379 0.8393 0.7211 0.8166 Uncertain 6_25108990_C->- 6 25108990 25108990 C - indel 2477.73 1/1 99 76 0 76 1.0 ncRNA_intronic rs3215685 CMAHP AU 0.590855 0.8403 0.7128 0.8227 Uncertain 6_25108991_C->T 6 25108991 25108991 C T snp 2081.77 1/1 99 62 0 62 1.0 ncRNA_intronic rs79916468 CMAHP AU 0.590855 0.8403 0.7128 0.8225 Uncertain 6_25115296_G->T 6 25115296 25115296 G T snp 2107.77 1/1 99 87 0 87 1.0 ncRNA_exonic rs2273671 CMAHP AU 0.166134 0.2688 0.1479 0.2426 0.07 T 0.383 P -1.095 T 0.147 T 0.041 T Uncertain 6_25279208_A->T 6 25279208 25279208 A T snp 135.03 1/1 12 5 0 5 1.0 upstream rs6908902 LRRC16A AU 0.727436 0.8115 Uncertain 6_25279840_T->- 6 25279840 25279840 T - indel 71.5 0/1 3 7 2 5 0.71 UTR5 rs377675604 LRRC16A AU 0.713658 0.7917 Uncertain 6_25280119_C->A 6 25280119 25280119 C A snp 1250.77 1/1 90 46 0 46 1.0 intronic rs6914799 LRRC16A AU NM_001173977 exon1 c.40+56C>A 0.705072 0.8075 0.654840 Uncertain 6_25420344_C->G 6 25420344 25420344 C G snp 3700.77 1/1 99 136 0 136 1.0 exonic rs913455 LRRC16A AU synonymous SNV NM_001173977 exon3 c.C141G p.V47V 0.947484 1 0.917568 0.9525 1 Uncertain 6_25426641_TT->- 6 25426641 25426642 TT - indel 966.73 0/1 42 52 9 43 0.83 intronic rs544236436 LRRC16A AU NM_001173977 exon4 c.146705-87_146705-86delTT 0.374601 0.4524 Uncertain 6_25435552_G->A 6 25435552 25435552 G A snp 304.78 1/1 24 8 0 8 1.0 intronic rs76448003 LRRC16A AU NM_001173977 exon5 c.155687-158G>A 0.0399361 0.124 Uncertain 6_25450026_C->A 6 25450026 25450026 C A snp 432.77 1/1 33 13 0 13 1.0 intronic rs9295661 LRRC16A AU NM_001173977 exon6 c.170102-99C>A 0.953674 1 Uncertain 6_25450953_TTCCTTCT->- 6 25450953 25450960 TTCCTTCT - indel 1094.73 1/1 36 16 0 16 1.0 intronic rs146339541 LRRC16A AU NM_001173977 exon8 c.170916+14_170916+21delTTCCTTCT 0.165735 0.3194 0.074904 0.1384 0.3117 Uncertain 6_25452223_T->C 6 25452223 25452223 T C snp 37.77 0/1 66 8 5 3 0.38 intronic rs55733029 LRRC16A AU NM_001173977 exon8 c.170916+1284T>C 0.6371 0.5897 Uncertain 6_25492296_C->T 6 25492296 25492296 C T snp 2687.77 1/1 99 97 0 97 1.0 intronic rs1034051 LRRC16A AU NM_001173977 exon15 c.212229+44C>T 0.953275 1 0.948192 0.9700 0.9989 Uncertain 6_25495218_C->T 6 25495218 25495218 C T snp 680.77 1/1 51 20 0 20 1.0 intronic rs447724 LRRC16A AU NM_001173977 exon16 c.215315-120C>T 0.729433 0.9058 Uncertain 6_25510648_T->C 6 25510648 25510648 T C snp 686.77 1/1 51 19 0 19 1.0 intronic rs7453991 LRRC16A AU NM_001173977 exon19 c.230711-86T>C 0.989018 0.996 Uncertain 6_25517372_C->T 6 25517372 25517372 C T snp 54.74 1/1 6 2 0 2 1.0 intronic rs9379771 LRRC16A AU NM_001173977 exon22 c.237551-202C>T 0.184505 0.4157 Uncertain 6_25554148_T->G 6 25554148 25554148 T G snp 2558.77 1/1 99 84 0 84 1.0 intronic rs2072849 LRRC16A AU NM_001173977 exon28 c.274213-88T>G 0.223442 0.4077 Uncertain 6_25554180_C->G 6 25554180 25554180 C G snp 3799.77 1/1 99 134 0 134 1.0 intronic rs214049 LRRC16A AU NM_001173977 exon28 c.274213-56C>G 0.859625 0.9415 0.811651 Uncertain 6_25557132_-->T 6 25557132 25557132 - T indel 312.73 0/1 99 79 12 67 0.85 intronic rs34575637 LRRC16A AU NM_001173977 exon29 c.277055+54insT Uncertain 6_25605091_G->A 6 25605091 25605091 G A snp 2868.77 1/1 99 101 0 101 1.0 exonic rs1012899 LRRC16A AU nonsynonymous SNV NM_001173977 exon34 c.G3604A p.G1202S 0.801318 0.869 0.773108 0.7898 0.8740 0.94 T 0.181 P -0.923 T 0.0 T 0.0 T Pathogenic 6_25619581_C->A 6 25619581 25619581 C A snp 521.77 1/1 39 15 0 15 1.0 intronic rs3747526 LRRC16A AU NM_001173977 exon37 c.339651-93C>A 0.245208 0.4325 Uncertain 6_25664981_T->A 6 25664981 25664981 T A snp 99.28 1/1 9 3 0 3 1.0 intronic rs9393654 SCGN AU NM_006998 exon4 c.12539-189T>A 0.846845 0.8552 Uncertain 6_25689379_T->- 6 25689379 25689379 T - indel 2271.73 1/1 99 120 2 118 0.98 intronic rs11327870 SCGN AU NM_006998 exon8 c.36768-20delT 0.5954 0.6518 Uncertain 6_25689487_G->C 6 25689487 25689487 G C snp 1504.77 1/1 99 52 0 52 1.0 intronic rs2294346 SCGN AU NM_006998 exon8 c.36814+42G>C 0.470248 0.7024 0.377903 0.4530 0.7246 Uncertain 6_25701691_C->G 6 25701691 25701691 C G snp 2105.77 1/1 99 61 0 61 1.0 UTR3 rs6928384 SCGN AU 0.974241 1 Uncertain 6_25701718_G->A 6 25701718 25701718 G A snp 1149.77 1/1 87 32 0 32 1.0 UTR3 rs11794 SCGN AU 0.346046 0.6776 Uncertain 6_25726213_G->A 6 25726213 25726213 G A snp 971.77 1/1 72 27 0 27 1.0 upstream;downstream rs9379785 HIST1H2BA;HIST1H2AA UN 0.346845 0.6815 Uncertain 6_25726329_-->TT 6 25726329 25726329 - TT indel 8243.73 1/1 99 150 0 150 1.0 UTR3 rs112943240 HIST1H2AA AU 0.346845 0.6815 0.3322 0.7034 Uncertain 6_25726343_C->T 6 25726343 25726343 C T snp 4570.77 1/1 99 160 0 160 1.0 UTR3 rs6940348 HIST1H2AA AU 0.939896 0.9812 0.951638 0.9711 0.9585 Uncertain 6_25726675_G->A 6 25726675 25726675 G A snp 6688.77 1/1 99 250 0 250 1.0 exonic rs9358871 HIST1H2AA AU synonymous SNV NM_170745 exon1 c.C81T p.P27P 0.346845 0.6815 0.230278 0.3287 0.7062 Uncertain 6_25726774_A->C 6 25726774 25726774 A C snp 3381.77 1/1 99 119 1 118 0.99 UTR5 rs4711095 HIST1H2AA AU 0.347045 0.6825 0.230201 0.3362 0.7065 Uncertain 6_25727054_A->G 6 25727054 25727054 A G snp 634.77 1/1 48 17 0 17 1.0 upstream rs4711096 HIST1H2AA AU 0.351637 0.6944 Uncertain 6_25727057_C->T 6 25727057 25727057 C T snp 719.77 1/1 54 20 0 20 1.0 upstream rs4712959 HIST1H2AA AU 0.347244 0.6825 Uncertain 6_25727265_C->T 6 25727265 25727265 C T snp 6139.77 1/1 99 231 0 231 1.0 exonic rs4712960 HIST1H2BA AU synonymous SNV NM_170610 exon1 c.C129T p.I43I 0.347045 0.6825 0.230355 0.3273 0.7050 Uncertain 6_25727334_C->T 6 25727334 25727334 C T snp 4456.77 1/1 99 153 0 153 1.0 exonic rs4712961 HIST1H2BA AU synonymous SNV NM_170610 exon1 c.C198T p.S66S 0.347045 0.6825 0.230355 0.3273 0.7048 Uncertain 6_25727517_G->A 6 25727517 25727517 G A snp 481.77 1/1 36 15 0 15 1.0 exonic rs9358872 HIST1H2BA AU synonymous SNV NM_170610 exon1 c.G381A p.K127K 0.347045 0.6825 0.230278 0.3324 0.7039 Uncertain 6_25769349_T->C 6 25769349 25769349 T C snp 3377.77 1/1 99 124 1 123 0.99 exonic rs1892251 SLC17A4 AU synonymous SNV NM_005495 exon3 c.T228C p.A76A 0.877796 0.9851 0.833846 0.9051 0.9810 Uncertain 6_25770239_A->G 6 25770239 25770239 A G snp 2618.77 1/1 99 85 0 85 1.0 intronic rs2328893 SLC17A4 AU NM_005495 exon4 c.8104-55A>G 0.594449 0.8442 Uncertain 6_25770707_G->A 6 25770707 25770707 G A snp 2731.77 1/1 99 95 0 95 1.0 intronic rs4712970 SLC17A4 AU NM_005495 exon5 c.8509+8G>A 0.384784 0.7411 0.254959 0.3440 0.7606 Uncertain 6_25779392_A->G 6 25779392 25779392 A G snp 3586.77 1/1 99 135 0 135 1.0 exonic rs9358890 SLC17A4 AU synonymous SNV NM_005495 exon12 c.A1470G p.K490K 0.194289 0.4921 0.046286 0.1202 0.5006 Uncertain 6_25798932_G->A 6 25798932 25798932 G A snp 2236.77 1/1 99 81 0 81 1.0 intronic rs1165215 SLC17A1 AU 0.719848 0.8175 Uncertain 6_25800922_T->C 6 25800922 25800922 T C snp 220.84 1/1 18 6 0 6 1.0 intronic rs1165211 SLC17A1 AU NM_005074 exon3 c.2105-195T>C 0.464856 0.6905 Uncertain 6_25801057_T->C 6 25801057 25801057 T C snp 1620.77 1/1 99 64 0 64 1.0 intronic rs1165210 SLC17A1 AU NM_005074 exon3 c.2105-60T>C 0.983427 0.994 Uncertain 6_25801319_G->A 6 25801319 25801319 G A snp 96.28 1/1 9 3 0 3 1.0 intronic rs1165209 SLC17A1 AU NM_005074 exon3 c.2196+111G>A 0.719848 0.8175 Uncertain 6_25813150_G->A 6 25813150 25813150 G A snp 5023.77 1/1 99 188 0 188 1.0 exonic rs1165196 SLC17A1 AU nonsynonymous SNV NM_005074 exon8 c.C806T p.T269I 0.71905 0.8165 0.653006 0.6161 0.8653 0.53 T 0.0 P -1.024 T 0.0 T 0.002 T ID=CM086146;DIS=Uric acid concentration, association with;TAG=DP;PUB=18834626 DP Pathogenic 6_25849620_A->G 6 25849620 25849620 A G snp 1462.77 0/1 99 121 55 66 0.55 exonic rs942379 SLC17A3 AD synonymous SNV NM_006632 exon10 c.T1110C p.S370S 0.703075 0.8105 0.639474 0.6019 0.8622 0.985 P -1.018 T Likely benign 6_25914801_G->A 6 25914801 25914801 G A snp 1607.77 0/1 99 158 82 76 0.48 exonic rs2071299 SLC17A2 AU synonymous SNV NM_001286125 exon9 c.C1161T p.G387G 0.40016 0.6964 0.320621 0.4112 0.7115 0.82 T 0.576 P -1.033 T Likely benign 6_25914901_G->A 6 25914901 25914901 G A snp 1046.77 0/1 99 67 27 40 0.6 splicing rs2071298 SLC17A2 AU NM_005835 exon2 c.1376+3G>A 0.40016 0.6964 0.320621 0.4122 0.7117 Pathogenic 6_25916979_C->T 6 25916979 25916979 C T snp 1898.77 0/1 99 156 75 81 0.52 exonic rs1865760 SLC17A2 AU synonymous SNV NM_001286123 exon7 c.G864A p.L288L 0.40016 0.6964 0.320391 0.4071 0.7119 Uncertain 6_25918688_G->A 6 25918688 25918688 G A snp 967.77 0/1 99 85 44 41 0.48 intronic rs3752421 SLC17A2 AU NM_005835 exon6 c.5192-26G>A 0.404952 0.7093 0.323159 0.4155 0.7244 Uncertain 6_25924158_T->C 6 25924158 25924158 T C snp 453.77 0/1 99 53 30 23 0.43 intronic rs1540273 SLC17A2 AU NM_005835 exon9 c.10612+24T>C 0.39976 0.6954 0.320852 0.4113 0.7137 Uncertain 6_25925823_A->G 6 25925823 25925823 A G snp 270.77 0/1 99 25 12 13 0.52 intronic rs7770139 SLC17A2 AU NM_005835 exon10 c.12474-173A>G 0.39976 0.6954 Uncertain 6_26021125_G->A 6 26021125 26021125 G A snp 2059.77 0/1 99 166 80 86 0.52 exonic rs201436204 HIST1H3A AU synonymous SNV NM_003529 exon1 c.G408A p.A136A 0.00159744 0.0069 0.0005 0.0073 Uncertain 6_26021813_A->T 6 26021813 26021813 A T snp 458.77 0/1 99 41 20 21 0.51 upstream;downstream rs9467664 HIST1H4A;HIST1H3A UN 0.777955 0.8571 Uncertain 6_26027135_G->A 6 26027135 26027135 G A snp 1618.77 0/1 99 203 130 73 0.36 UTR3 rs3752420 HIST1H4B AU 0.391773 0.7083 0.331770 0.4103 0.7311 Uncertain 6_26027433_G->A 6 26027433 26027433 G A snp 3086.77 0/1 99 248 130 118 0.48 exonic rs3752419 HIST1H4B AU synonymous SNV NM_003544 exon1 c.C48T p.A16A 0.394369 0.7123 0.333000 0.4047 0.7288 Uncertain 6_26031868_G->A 6 26031868 26031868 G A snp 2111.77 0/1 99 191 95 96 0.5 UTR3 rs2213284 HIST1H3B AU 0.78115 0.8581 0.760572 0.7036 0.8791 Uncertain 6_26033506_G->A 6 26033506 26033506 G A snp 1570.77 0/1 99 114 45 69 0.61 exonic rs2230655 HIST1H2AB AU synonymous SNV NM_003513 exon1 c.C291T p.L97L 0.781949 0.8601 0.761802 0.7049 0.8852 Uncertain 6_26033809_-->AAG 6 26033809 26033809 - AAG indel 5207.73 0/1 99 231 127 104 0.45 upstream rs33919743 HIST1H2AB AU 0.763898 0.6383 0.8659 Uncertain 6_26033828_G->A 6 26033828 26033828 G A snp 1996.77 0/1 99 193 108 85 0.44 upstream rs3830054 HIST1H2AB AU 0.215655 0.5149 0.074504 0.1452 0.5350 Uncertain 6_26044369_A->G 6 26044369 26044369 A G snp 1548.77 0/1 99 134 64 70 0.52 upstream rs2032447 HIST1H2BB AU 0.689097 0.8423 0.6810 0.8721 Uncertain 6_26045737_C->G 6 26045737 26045737 C G snp 3289.77 0/1 99 250 115 135 0.54 exonic rs3752418 HIST1H3C AU synonymous SNV NM_003531 exon1 c.C99G p.T33T 0.216853 0.5149 0.075208 0.1456 0.5364 Uncertain 6_26045929_T->C 6 26045929 26045929 T C snp 2698.77 0/1 99 204 101 103 0.5 exonic rs3752416 HIST1H3C AU synonymous SNV NM_003531 exon1 c.T291C p.C97C 0.705272 0.8423 0.689143 0.6713 0.8684 Uncertain 6_26056549_A->G 6 26056549 26056549 A G snp 1670.77 0/1 99 150 85 65 0.43 exonic rs10425 HIST1H1C AU synonymous SNV NM_005319 exon1 c.T108C p.S36S 0.760783 0.8552 0.733969 0.6806 0.8844 Uncertain 6_26056604_G->A 6 26056604 26056604 G A snp 1323.77 0/1 99 116 60 56 0.48 exonic rs2230653 HIST1H1C AU nonsynonymous SNV NM_005319 exon1 c.C53T p.A18V 0.17492 0.5089 0.018250 0.1051 0.5342 0.11 T 0.312 P -0.966 T 0.0 T 0.001 T Pathogenic 6_26087856_T->A 6 26087856 26087856 T A snp 1036.77 0/1 99 90 42 48 0.53 intronic rs2858993 HFE AR,AD,AU NM_139009 exon1 c.76+112T>A 0.39377 0.7143 Uncertain 6_26091336_T->C 6 26091336 26091336 T C snp 1327.77 0/1 99 100 45 55 0.55 splicing rs2071303 HFE AR,AD,AU NM_139009 exon2 c.3664+4T>C 0.426717 0.629 0.345840 0.3686 0.6788 ID=CS991415;DIS=Haemochromatosis, association with;TAG=DP;PUB=10401000 DP Pathogenic 6_26093303_T->C 6 26093303 26093303 T C snp 1488.77 0/1 99 134 72 62 0.46 intronic rs1800708 HFE AR,AD,AU NM_139009 exon5 c.5678-43T>C 0.21865 0.5506 0.071890 0.1472 0.5685 Uncertain 6_26094367_G->A 6 26094367 26094367 G A snp 191.77 0/1 99 15 7 8 0.53 intronic rs1572982 HFE AR,AD,AU NM_139009 exon6 c.6745-46G>A 0.590655 0.6954 0.516838 0.5146 0.7238 ID=CS116812;DIS=Iron overload trait, association with;TAG=DFP;PUB=21412944 DFP Uncertain 6_26104096_T->C 6 26104096 26104096 T C snp 129.77 0/1 99 30 21 9 0.3 upstream rs198853 HIST1H4C AU 0.233427 0.1379 Uncertain 6_26104448_A->G 6 26104448 26104448 A G snp 683.77 0/1 99 68 37 31 0.46 exonic rs198852 HIST1H4C AU synonymous SNV NM_003542 exon1 c.A273G p.L91L 0.246006 0.1379 0.301169 0.3325 0.1185 Uncertain 6_26104632_T->G 6 26104632 26104632 T G snp 141.03 1/1 12 4 0 4 1.0 downstream rs198851 HIST1H4C AU 0.926717 0.9712 Uncertain 6_26107790_G->T 6 26107790 26107790 G T snp 2579.77 0/1 99 177 73 104 0.59 exonic rs198845 HIST1H1T AU nonsynonymous SNV NM_005323 exon1 c.C532A p.Q178K 0.244409 0.1319 0.301322 0.3313 0.1085 0.92 T 0.0 P -0.992 T 0.483 P 0.162 P Pathogenic 6_26108168_G->A 6 26108168 26108168 G A snp 1947.77 0/1 99 178 93 85 0.48 exonic rs2051542 HIST1H1T AU nonsynonymous SNV NM_005323 exon1 c.C154T p.L52F 0.217053 0.5506 0.071890 0.1469 0.5687 0 D 0.000 P -0.991 T 0.997 D 0.968 D Pathogenic 6_26108282_C->G 6 26108282 26108282 C G snp 898.77 0/1 99 54 23 31 0.57 exonic rs198844 HIST1H1T AU nonsynonymous SNV NM_005323 exon1 c.G40C p.V14L 0.407947 0.2996 0.483392 0.4867 0.2655 0.21 T 0.0 P -0.902 T 0.0 T 0.0 T Pathogenic 6_26123629_T->C 6 26123629 26123629 T C snp 414.77 0/1 99 23 10 13 0.57 upstream;downstream rs198821 HIST1H2AC;HIST1H2BC UN 0.408546 0.3065 Uncertain 6_26124243_G->A 6 26124243 26124243 G A snp 463.77 0/1 99 35 17 18 0.51 upstream rs198820 HIST1H2AC AU 0.240216 0.1399 Uncertain 6_26124430_C->T 6 26124430 26124430 C T snp 1749.77 0/1 99 136 62 74 0.54 UTR5 rs198819 HIST1H2AC AU 0.390375 0.3065 0.468092 0.4884 0.2824 Uncertain 6_26184011_C->T 6 26184011 26184011 C T snp 2279.77 0/1 99 201 103 98 0.49 upstream rs116848504 HIST1H2BE AU 0.00299521 0.0119 0.000154 0.0043 0.0126 Uncertain 6_26184102_G->A 6 26184102 26184102 G A snp 1859.77 0/1 99 163 87 76 0.47 exonic rs7766641 HIST1H2BE AU nonsynonymous SNV NM_003523 exon1 c.G79A p.G27S 0.352835 0.7579 0.207981 0.3340 0.7435 0.11 T 0.922 P -1.115 T Pathogenic 6_26199524_A->G 6 26199524 26199524 A G snp 1220.77 1/1 90 37 0 37 1.0 upstream rs438534 HIST1H2AD AU 0.991414 0.999 Uncertain 6_26200083_A->G 6 26200083 26200083 A G snp 1533.77 0/1 99 125 64 61 0.49 exonic rs1059486 HIST1H2BF AU synonymous SNV NM_003522 exon1 c.A297G p.V99V 0.649561 0.9187 0.489466 0.5702 0.9218 Uncertain 6_26205293_G->A 6 26205293 26205293 G A snp 117.77 0/1 66 7 2 5 0.71 downstream rs806795 HIST1H4E AU 0.766973 0.9226 Uncertain 6_26271713_A->T 6 26271713 26271713 A T snp 666.77 0/1 99 56 26 30 0.54 upstream rs9393690 HIST1H3G AU 0.611422 0.872 Uncertain 6_26285560_A->G 6 26285560 26285560 A G snp 3617.77 0/1 99 249 107 142 0.57 exonic rs2393592 HIST1H4H AU synonymous SNV NM_003543 exon1 c.T168C p.R56R 0.61901 0.8929 0.483777 0.6018 0.9098 Uncertain 6_26285683_T->C 6 26285683 26285683 T C snp 2979.77 0/1 99 248 118 130 0.52 exonic rs2393593 HIST1H4H AU synonymous SNV NM_003543 exon1 c.A45G p.G15G 0.790535 0.8938 0.657620 0.6660 0.9138 Uncertain 6_26285867_C->T 6 26285867 26285867 C T snp 226.77 0/1 99 13 6 7 0.54 upstream rs3999544 HIST1H4H AU 0.790735 0.8938 Uncertain 6_26368911_A->G 6 26368911 26368911 A G snp 376.77 0/1 99 69 44 25 0.36 exonic BTN3A2 AU synonymous SNV NM_001197246 exon2 c.A204G p.V68V Uncertain 6_26412718_G->T 6 26412718 26412718 G T snp 222.77 0/1 99 34 21 13 0.38 exonic rs537547277 BTN3A1 AU nonsynonymous SNV NM_001145009 exon10 c.G1097T p.R366M 0.000199681 0.001 0 D 1 N -0.920 T 0.963 D 0.307 D Pathogenic 6_26459996_C->T 6 26459996 26459996 C T snp 7570.77 1/1 99 249 0 249 1.0 exonic rs3734539 BTN2A1 AU nonsynonymous SNV NM_007049 exon3 c.C370T p.R124C 0.0081869 0.0387 0.000077 0.0029 0.0392 0.2 T 0.910 N -1.046 T 0.047 T 0.011 T Pathogenic 6_26463321_A->C 6 26463321 26463321 A C snp 96.28 1/1 9 3 0 3 1.0 intronic rs3734540 BTN2A1 AU NM_001197234 exon4 c.4607-150A>C 0.449081 0.7004 Uncertain 6_26466225_A->C 6 26466225 26466225 A C snp 2546.77 1/1 99 100 0 100 1.0 intronic rs1977198 BTN2A1 AU NM_001197234 exon6 c.7337+24A>C 0.459065 0.7044 0.396048 0.5091 0.6901 Uncertain 6_26466389_G->A 6 26466389 26466389 G A snp 141.03 1/1 12 4 0 4 1.0 intronic rs1977199 BTN2A1 AU NM_001197234 exon7 c.7452+73G>A 0.685903 0.8026 0.671266 Uncertain 6_26466392_G->A 6 26466392 26466392 G A snp 141.03 1/1 12 4 0 4 1.0 intronic rs1977200 BTN2A1 AU NM_001197234 exon7 c.7452+76G>A 0.685903 0.8026 0.671047 Uncertain 6_26476155_A->G 6 26476155 26476155 A G snp 90.28 1/1 9 3 0 3 1.0 ncRNA_intronic rs1407045 LOC285819 AU 0.450879 0.6964 Uncertain 6_26501472_G->- 6 26501472 26501472 G - indel 1579.73 1/1 99 41 0 41 1.0 upstream rs3215660 BTN1A1 AU 0.564696 0.7312 0.486981 0.5134 0.7401 Uncertain 6_26501777_C->G 6 26501777 26501777 C G snp 1308.77 1/1 96 40 0 40 1.0 intronic rs2255070 BTN1A1 AU NM_001732 exon2 c.303-40C>G 0.564497 0.7312 0.482008 0.5147 0.7412 Uncertain 6_26501897_T->C 6 26501897 26501897 T C snp 4130.77 1/1 99 151 0 151 1.0 exonic rs1321479 BTN1A1 AU synonymous SNV NM_001732 exon2 c.T159C p.S53S 0.565895 0.7312 0.484142 0.5156 0.7398 Uncertain 6_26505135_C->T 6 26505135 26505135 C T snp 798.77 1/1 60 26 0 26 1.0 intronic rs3736780 BTN1A1 AU NM_001732 exon3 c.3638-17C>T 0.933307 0.9593 0.908427 0.9095 0.9436 Uncertain 6_26505362_G->A 6 26505362 26505362 G A snp 3910.77 1/1 99 136 0 136 1.0 exonic rs3736781 BTN1A1 AU nonsynonymous SNV NM_001732 exon3 c.G637A p.A213T 0.568291 0.746 0.486852 0.5138 0.7479 0.46 T 0.0 P -1.073 T 0.005 T 0.03 T Pathogenic 6_26505403_C->A 6 26505403 26505403 C A snp 3355.77 1/1 99 122 0 122 1.0 exonic rs3736782 BTN1A1 AU synonymous SNV NM_001732 exon3 c.C678A p.G226G 0.567692 0.745 0.486929 0.5143 0.7482 Uncertain 6_26509330_C->G 6 26509330 26509330 C G snp 1688.77 1/1 99 64 0 64 1.0 exonic rs9393728 BTN1A1 AU nonsynonymous SNV NM_001732 exon7 c.C1509G p.D503E 0.56889 0.746 0.487775 0.5146 0.7476 1 T 0.0 P -0.976 T 0.001 T 0.001 T Pathogenic 6_26545308_C->G 6 26545308 26545308 C G snp 724.77 1/1 54 22 0 22 1.0 intronic rs1884946 HMGN4 AU 0.569888 0.746 Uncertain 6_26545632_G->A 6 26545632 26545632 G A snp 1273.77 1/1 90 48 0 48 1.0 exonic rs4871 HMGN4 AU synonymous SNV NM_006353 exon2 c.G198A p.G66G 0.569688 0.746 0.487160 0.5148 0.7497 Uncertain 6_26597333_A->G 6 26597333 26597333 A G snp 2717.77 1/1 99 86 0 86 1.0 exonic ABT1 AU synonymous SNV NM_013375 exon1 c.A123G p.K41K 0.708666 0.7917 0.647317 0.6411 0.7979 Uncertain 6_26598188_A->G 6 26598188 26598188 A G snp 5488.77 1/1 99 201 1 200 1.0 exonic ABT1 AU synonymous SNV NM_013375 exon2 c.A288G p.G96G 0.516174 0.6667 0.439182 0.4571 0.6862 Uncertain 6_26637796_C->A 6 26637796 26637796 C A snp 748.77 0/1 99 247 180 67 0.27 exonic ZNF322 AU nonsynonymous SNV NM_001242798 exon3 c.G986T p.G329V 0.2017 0.1963 0.05 T 0.999 D -1.059 T 0.149 T 0.064 T Pathogenic 6_27100844_G->A 6 27100844 27100844 G A snp 1574.77 0/1 99 139 72 67 0.48 UTR5 rs142369462 HIST1H2AG AU 0.000599042 0.003 0.0003 0.0036 Uncertain 6_27114425_G->A 6 27114425 27114425 G A snp 119.77 0/1 99 178 153 25 0.14 exonic rs202101103 HIST1H2BK AU synonymous SNV NM_080593 exon1 c.C153T p.P51P 0.2418 0.3486 Uncertain 6_27216848_T->C 6 27216848 27216848 T C snp 802.77 1/1 60 23 0 23 1.0 intronic rs1234145 PRSS16 AU NM_005865 exon4 c.1362-30T>C 0.978035 0.9901 0.983774 0.9773 0.9964 Uncertain 6_27277402_C->T 6 27277402 27277402 C T snp 2899.77 1/1 99 108 0 108 1.0 exonic rs6456773 POM121L2 AU nonsynonymous SNV NM_033482 exon1 c.G2548A p.G850S 0.979034 0.9901 0.983574 0.9631 0.9936 1 T 0.0 P -0.924 T 0.0 T 0.0 T Pathogenic 6_27356527_T->C 6 27356527 27356527 T C snp 303.78 1/1 24 9 0 9 1.0 UTR5 rs13220817 ZNF391 AU 0.544928 0.4692 Uncertain 6_27356867_A->G 6 27356867 27356867 A G snp 8170.77 1/1 99 250 0 250 1.0 intronic rs4713091 ZNF391 AU 0.991014 0.999 0.9938 1 Uncertain 6_27356902_A->G 6 27356902 27356902 A G snp 8164.77 1/1 99 250 0 250 1.0 intronic rs10807020 ZNF391 AU 0.677316 0.5804 0.7639 0.6139 Uncertain 6_27356925_T->G 6 27356925 27356925 T G snp 7948.77 1/1 99 250 0 250 1.0 intronic rs10807021 ZNF391 AU 0.685503 0.5804 0.7659 0.6139 Uncertain 6_27357308_T->C 6 27357308 27357308 T C snp 942.77 1/1 69 29 0 29 1.0 intronic rs6904883 ZNF391 AU 0.678514 0.5804 Uncertain 6_27368031_T->C 6 27368031 27368031 T C snp 256.8 1/1 21 7 0 7 1.0 intronic rs766092 ZNF391 AU 0.685903 0.5813 Uncertain 6_27424443_T->A 6 27424443 27424443 T A snp 434.77 1/1 33 13 0 13 1.0 intronic rs764461 ZNF184 AU NM_007149 exon2 c.5523-161T>A 0.618011 0.5774 Uncertain 6_27424960_G->C 6 27424960 27424960 G C snp 586.77 1/1 45 16 0 16 1.0 intronic rs10484398 ZNF184 AU NM_007149 exon3 c.5980-101G>C 0.618211 0.5774 Uncertain 6_27425185_C->A 6 27425185 27425185 C A snp 3986.77 1/1 99 145 0 145 1.0 exonic rs1883216 ZNF184 AU nonsynonymous SNV NM_007149 exon4 c.G79T p.A27S 0.618211 0.5774 0.600415 0.6415 0.5931 1 T 0.0 P -1.039 T 0.0 T 0.0 T Pathogenic 6_27435707_G->A 6 27435707 27435707 G A snp 2134.77 1/1 99 78 0 78 1.0 intronic rs2272814 ZNF184 AU NM_007149 exon4 c.16618+8G>A 0.638778 0.5774 0.663694 0.6870 0.5931 Uncertain 6_27440004_A->C 6 27440004 27440004 A C snp 7161.77 1/1 99 250 1 249 1.0 intronic rs7750795 ZNF184 AU NM_007149 exon5 c.20985-62A>C 0.637181 0.5774 0.667543 Uncertain 6_27792221_C->T 6 27792221 27792221 C T snp 6932.77 1/1 99 248 3 245 0.99 UTR3 rs200499 HIST1H4J AU 0.947085 0.9345 0.9368 0.9190 Uncertain 6_27792228_T->C 6 27792228 27792228 T C snp 7053.77 1/1 99 250 2 248 0.99 UTR3 rs200498 HIST1H4J AU 0.947085 0.9345 0.9367 0.9190 Uncertain 6_28059020_G->A 6 28059020 28059020 G A snp 2250.77 1/1 99 72 0 72 1.0 ncRNA_exonic rs9393887 ZSCAN12P1 AU 0.228834 0.1885 0.1976 0.1717 Uncertain 6_28059217_G->C 6 28059217 28059217 G C snp 4646.77 1/1 99 169 0 169 1.0 ncRNA_exonic rs9393888 ZSCAN12P1 AU 0.223043 0.1875 0.1656 0.1862 Uncertain 6_28059437_T->C 6 28059437 28059437 T C snp 135.03 1/1 12 4 0 4 1.0 ncRNA_intronic rs3734573 ZSCAN12P1 AU 0.223243 0.1875 Uncertain 6_28090931_A->G 6 28090931 28090931 A G snp 176.9 1/1 15 7 0 7 1.0 ncRNA_exonic rs6934769 ZSCAN16-AS1 AU 0.223043 0.1875 0.2271 0.1875 Uncertain 6_28094432_T->C 6 28094432 28094432 T C snp 1012.77 1/1 75 29 0 29 1.0 ncRNA_intronic rs12055625 ZSCAN16-AS1 AU 0.0611022 0.1062 Uncertain 6_28094731_T->C 6 28094731 28094731 T C snp 1563.77 1/1 99 49 0 49 1.0 ncRNA_intronic rs2275508 ZSCAN16-AS1 AU 0.229034 0.1885 0.247040 0.2175 0.1686 Uncertain 6_28097193_G->A 6 28097193 28097193 G A snp 4308.77 1/1 99 159 0 159 1.0 ncRNA_intronic rs4713140 ZSCAN16-AS1 AU 0.101238 0.12 0.115331 0.1158 0.1187 Uncertain 6_28104476_C->T 6 28104476 28104476 C T snp 5893.77 1/1 99 199 1 198 0.99 ncRNA_intronic rs9380056 ZSCAN16-AS1 AU 0.223243 0.1875 0.1663 0.1343 Uncertain 6_28104634_G->T 6 28104634 28104634 G T snp 7024.77 1/1 99 249 3 246 0.99 ncRNA_exonic rs9380057 ZSCAN16-AS1 AU 0.223243 0.1875 0.1622 0.1667 Uncertain 6_28117443_C->G 6 28117443 28117443 C G snp 906.77 1/1 66 33 0 33 1.0 intronic rs2622322 ZKSCAN8 AU NM_001278119 exon4 c.1217+41C>G 0.615615 0.5913 0.540058 0.4443 0.5690 Uncertain 6_28120898_G->A 6 28120898 28120898 G A snp 6893.77 1/1 99 250 1 249 1.0 exonic rs17774663 ZKSCAN8 AU synonymous SNV NM_001278122 exon6 c.G279A p.Q93Q 0.219649 0.1875 0.239889 0.2011 0.1652 Uncertain 6_28134582_C->T 6 28134582 28134582 C T snp 6195.77 1/1 99 221 0 221 1.0 ncRNA_exonic rs16893735 ZNF192P1 AU 0.0794728 0.12 0.046211 Uncertain 6_28197186_C->T 6 28197186 28197186 C T snp 689.77 1/1 54 23 0 23 1.0 intronic rs34477097 ZSCAN9 AU NM_001199479 exon4 c.3251-927C>T 0.239816 0.2312 Uncertain 6_28198281_A->G 6 28198281 28198281 A G snp 5245.77 1/1 99 193 0 193 1.0 intronic rs1233713 ZSCAN9 AU NM_001199479 exon4 c.3404+15A>G 0.608027 0.5784 0.4882 0.5303 Uncertain 6_28198456_T->C 6 28198456 28198456 T C snp 2031.77 1/1 75 71 2 69 0.97 intronic rs9468317 ZSCAN9 AU NM_001199479 exon4 c.3404+190T>C 0.207867 0.2113 Uncertain 6_28198831_G->A 6 28198831 28198831 G A snp 2872.77 1/1 99 87 0 87 1.0 intronic rs2299029 ZSCAN9 AU NM_001199479 exon4 c.3404+565G>A 0.208067 0.2113 Uncertain 6_28212748_G->A 6 28212748 28212748 G A snp 3303.77 1/1 99 115 2 113 0.98 UTR3 rs13408 ZKSCAN4 AU 0.617412 0.5784 Uncertain 6_28217797_G->T 6 28217797 28217797 G T snp 46.74 1/1 6 2 0 2 1.0 intronic rs68141011 ZKSCAN4 AU NM_019110 exon4 c.4719+185G>T 0.139377 0.128 Uncertain 6_28219270_G->A 6 28219270 28219270 G A snp 3420.77 1/1 99 139 0 139 1.0 intronic rs1736904 ZKSCAN4 AU NM_019110 exon5 c.6442-65G>A 0.366014 0.4792 0.2819 0.5209 0.41 T 0.000 P -0.979 T Uncertain 6_28219661_G->A 6 28219661 28219661 G A snp 5390.77 1/1 99 210 0 210 1.0 exonic rs9986596 ZKSCAN4 AU nonsynonymous SNV NM_019110 exon1 c.C98T p.S33F 0.139377 0.128 0.165118 0.1297 0.1243 0.7 T 0.000 P -0.909 T 0.006 T 0.005 T Pathogenic 6_28219826_G->A 6 28219826 28219826 G A snp 2478.77 1/1 99 90 0 90 1.0 UTR5 rs1736895 ZKSCAN4 AU 0.617412 0.5774 Uncertain 6_28227633_C->T 6 28227633 28227633 C T snp 3233.06 1/1 99 111 1 110 0.99 exonic rs9461446 NKAPL AU nonsynonymous SNV NM_001007531 exon1 c.C484T p.H162Y 0.0734824 0.122 0.045441 0.0576 0.1163 0.36 T 0.0 P -0.972 T 0.386 T 0.063 T Pathogenic 6_28239681_A->G 6 28239681 28239681 A G snp 1818.77 1/1 99 63 0 63 1.0 UTR5 rs2394049 ZSCAN26 AU 0.618011 0.5823 0.551686 0.5501 0.5756 Uncertain 6_28239915_G->A 6 28239915 28239915 G A snp 4329.77 1/1 99 151 0 151 1.0 exonic rs11965538 ZSCAN26 AU unknown 0.152157 0.13 0.2278 0.2323 Uncertain 6_28239932_-->G 6 28239932 28239932 - G indel 5816.73 1/1 99 143 0 143 1.0 exonic rs61622742 ZSCAN26 AU unknown 1 1 0.999679 0.9995 0.9998 Uncertain 6_28255040_G->C 6 28255040 28255040 G C snp 762.77 1/1 57 24 0 24 1.0 intronic rs1150721 PGBD1 AU NM_001184743 exon4 c.3355+95G>C 0.598642 0.5982 Uncertain 6_28265640_A->G 6 28265640 28265640 A G snp 813.77 1/1 60 25 0 25 1.0 intronic rs2743554 PGBD1 AU NM_001184743 exon6 c.14081-31A>G 0.150958 0.131 0.126675 0.0883 0.1268 Uncertain 6_28268452_G->C 6 28268452 28268452 G C snp 631.77 1/1 48 18 0 18 1.0 intronic rs1936365 PGBD1 AU NM_001184743 exon7 c.16910-48G>C 0.180511 0.13 0.209923 0.1421 0.1291 Uncertain 6_28268485_T->- 6 28268485 28268485 T - indel 1265.73 1/1 99 37 0 37 1.0 intronic rs3215466 PGBD1 AU NM_001184743 exon7 c.16910-15delT 0.115016 0.122 0.092412 0.0758 0.1174 Uncertain 6_28269663_A->G 6 28269663 28269663 A G snp 7270.77 1/1 99 243 0 243 1.0 exonic rs1997660 PGBD1 AU nonsynonymous SNV NM_032507 exon7 c.A2032G p.I678V 0.591653 0.6012 0.493772 0.3991 0.5890 1 T 0.0 P -0.903 T 0.0 T 0.001 T Pathogenic 6_28270064_T->A 6 28270064 28270064 T A snp 6169.77 1/1 99 216 0 216 1.0 UTR3 rs9461449 PGBD1 AU 0.104034 0.122 0.074769 0.0689 0.1170 Uncertain 6_28294550_T->C 6 28294550 28294550 T C snp 4009.77 1/1 99 152 0 152 1.0 exonic rs853684 ZSCAN31 AU nonsynonymous SNV NM_001243243 exon3 c.A137G p.K46R 0.615615 0.6042 0.540904 0.4485 0.5952 0.69 T 0.0 P -0.935 T 0.0 T 0.0 T Pathogenic 6_28295039_A->G 6 28295039 28295039 A G snp 535.77 1/1 42 14 0 14 1.0 intronic rs853683 ZSCAN31 AU NM_001243244 exon2 c.1217-120A>G 0.591254 0.6012 Uncertain 6_28297313_T->A 6 28297313 28297313 T A snp 2582.77 1/1 99 96 0 96 1.0 exonic rs853678 ZSCAN31 AU nonsynonymous SNV NM_001135216 exon2 c.A148T p.T50S 0.179912 0.129 0.209519 0.1401 0.1280 0.4 T 0.0 P -0.900 T 0.046 T 0.021 T Pathogenic 6_28331094_G->A 6 28331094 28331094 G A snp 4171.77 1/1 99 160 0 160 1.0 exonic rs17856167 ZKSCAN3 AU nonsynonymous SNV NM_001242895 exon3 c.G121A p.V41M 0.0970447 0.1349 0.065739 0.0681 0.1272 0.31 T 0.0 P -0.924 T 0.875 T 0.063 P Pathogenic 6_28331127_A->G 6 28331127 28331127 A G snp 4519.77 1/1 99 165 0 165 1.0 exonic rs13201752 ZKSCAN3 AU nonsynonymous SNV NM_001242895 exon3 c.A154G p.K52E 0.389776 0.2986 0.362833 0.3106 0.2600 1 T 0.0 P -0.972 T 0.057 T 0.014 T Pathogenic 6_28331128_A->C 6 28331128 28331128 A C snp 4526.77 1/1 99 165 0 165 1.0 exonic rs13201753 ZKSCAN3 AU nonsynonymous SNV NM_001242895 exon3 c.A155C p.K52T 0.389776 0.2986 0.361679 0.3106 0.2601 0.46 T 0.0 P -0.894 T 0.0 T 0.0 T Pathogenic 6_28331252_A->C 6 28331252 28331252 A C snp 1746.77 1/1 99 58 0 58 1.0 intronic rs213228 ZKSCAN3 AU NM_024493 exon4 c.3799+90A>C 0.4375 0.3105 Uncertain 6_28334080_AG->- 6 28334080 28334081 AG - indel 9149.73 1/1 99 196 0 196 1.0 UTR3 rs55924797 ZKSCAN3 AU 0.384585 0.2937 0.363019 0.3033 0.2510 Uncertain 6_28336395_TT->- 6 28336395 28336396 TT - indel 2445.73 1/1 99 49 0 49 1.0 UTR3 rs10549833 ZKSCAN3 AU 0.259585 0.1607 Uncertain 6_28358320_A->G 6 28358320 28358320 A G snp 6919.77 1/1 99 250 2 248 0.99 exonic rs1361385 ZSCAN12 AU nonsynonymous SNV NM_001163391 exon4 c.T1747C p.C583R 0.386382 0.2996 0.360929 0.4160 0.3982 Pathogenic 6_28358335_G->C 6 28358335 28358335 G C snp 6596.77 1/1 99 243 2 241 0.99 exonic rs1416918 ZSCAN12 AU nonsynonymous SNV NM_001163391 exon4 c.C1732G p.R578G 0.386382 0.2996 0.360710 0.4236 0.4150 Pathogenic 6_28359170_A->G 6 28359170 28359170 A G snp 4065.77 1/1 99 145 0 145 1.0 exonic rs2859348 ZSCAN12 AU synonymous SNV NM_001163391 exon4 c.T897C p.D299D 0.640575 0.5952 0.574682 0.5386 0.5760 Uncertain 6_28403225_C->T 6 28403225 28403225 C T snp 3658.77 1/1 99 138 0 138 1.0 intronic rs2071965 ZSCAN23 AU NM_001012455 exon2 c.995-11C>T 0.380192 0.2996 0.3624 0.2804 Uncertain 6_28403603_T->C 6 28403603 28403603 T C snp 7605.77 1/1 99 248 0 248 1.0 intronic rs11752919 ZSCAN23 AU NM_001012455 exon3 c.1394-32T>C 0.396965 0.2996 0.411739 0.3961 0.3106 Uncertain 6_28503479_G->A 6 28503479 28503479 G A snp 1796.77 1/1 99 50 0 50 1.0 downstream GPX5 AU 0.00559105 0.0278 0.000174 0.0018 0.0243 Uncertain 6_28542424_G->A 6 28542424 28542424 G A snp 7544.77 1/1 99 250 1 249 1.0 exonic ZBED9 AU synonymous SNV NM_052923 exon3 c.C2058T p.D686D 0.651558 0.6716 0.584730 0.5163 0.6777 Uncertain 6_28542520_C->T 6 28542520 28542520 C T snp 7900.77 1/1 99 249 0 249 1.0 exonic ZBED9 AU synonymous SNV NM_052923 exon3 c.G1962A p.K654K 0.651558 0.6716 0.584499 0.5154 0.6779 Uncertain 6_28543264_C->T 6 28543264 28543264 C T snp 4883.77 1/1 99 162 0 162 1.0 exonic ZBED9 AU synonymous SNV NM_052923 exon3 c.G1218A p.L406L 0.178115 0.1419 0.196385 0.1727 0.1292 Uncertain 6_28546952_G->A 6 28546952 28546952 G A snp 99.28 1/1 9 3 0 3 1.0 intronic ZBED9 AU NM_052923 exon3 c.7361-96G>A 0.264177 0.1538 Uncertain 6_28554543_G->T 6 28554543 28554543 G T snp 652.77 1/1 48 19 0 19 1.0 UTR5 ZBED9 AU 0.175719 0.1419 0.194402 0.1733 0.1305 Uncertain 6_28751727_T->C 6 28751727 28751727 T C snp 689.77 1/1 51 25 0 25 1.0 intergenic ZBED9 AU 0.669329 0.6448 Uncertain 6_28872446_T->C 6 28872446 28872446 T C snp 1205.77 1/1 87 38 0 38 1.0 intergenic ZBED9 AU 0.680911 0.6677 0.626126 0.5675 0.6831 Uncertain 6_28875502_C->T 6 28875502 28875502 C T snp 445.31 0/1 1 15 1 14 0.93 intergenic ZBED9 AU 0.678315 0.6677 Uncertain 6_28891423_G->A 6 28891423 28891423 G A snp 625.77 1/1 48 24 0 24 1.0 intergenic ZBED9 AU 0.107827 0.1171 0.098555 0.1813 0.1835 Uncertain 6_28911585_C->G 6 28911585 28911585 C G snp 697.77 1/1 51 26 0 26 1.0 intergenic ZBED9 AU 0.105631 0.1131 Uncertain 6_28911802_G->A 6 28911802 28911802 G A snp 2114.77 1/1 99 72 0 72 1.0 intergenic ZBED9 AU 0.677716 0.6627 0.5731 0.6650 0 D -0.923 T Uncertain 6_28963248_T->G 6 28963248 28963248 T G snp 1807.77 1/1 99 62 0 62 1.0 intergenic rs6456880 ZBED9 AU 0.667133 0.6508 0.572630 0.5088 0.6712 0.27 T 0.0 P -0.948 T 0.0 T 0.0 T Uncertain 6_28964086_G->A 6 28964086 28964086 G A snp 7003.77 1/1 99 246 0 246 1.0 intergenic rs61751894 ZBED9 AU 0.0832668 0.0972 0.077507 0.0935 0.0928 Uncertain 6_29011927_A->G 6 29011927 29011927 A G snp 212.84 1/1 18 8 0 8 1.0 ncRNA_intronic LOC100129636 AU 0.682109 0.6488 Uncertain 6_29011960_T->C 6 29011960 29011960 T C snp 968.77 1/1 72 33 0 33 1.0 ncRNA_intronic LOC100129636 AU 0.260383 0.1369 0.258920 0.2381 0.1642 Uncertain 6_29068622_T->A 6 29068622 29068622 T A snp 1426.77 1/1 99 45 0 45 1.0 intergenic LOC100129636 AU 0.261581 0.1369 Uncertain 6_29068759_C->A 6 29068759 29068759 C A snp 6062.77 1/1 99 207 1 206 1.0 intergenic LOC100129636 AU 0.71246 0.6071 0.8046 0.5656 1 T 0.0 P -1.057 T Uncertain 6_29069337_A->T 6 29069337 29069337 A T snp 8429.77 1/1 99 249 0 249 1.0 intergenic LOC100129636 AU 0.71246 0.6071 0.8038 0.5652 Uncertain 6_29079925_C->G 6 29079925 29079925 C G snp 3117.77 0/1 99 250 121 129 0.52 intergenic LOC100129636 AU 0.00579073 0.003 0.007926 0.0097 0.0010 ID=COSM451121;OCCURENCE=1(breast) Uncertain 6_29080004_A->G 6 29080004 29080004 A G snp 6017.77 1/1 99 213 1 212 1.0 intergenic rs28757581 LOC100129636 AU 0.191893 0.1101 0.172638 0.1446 0.1136 0.07 T 0.0 P -0.960 T 0.004 T 0.012 T CLINSIG=pathogenic;CLNDBN=C3HEX\x2c_ability_to_smell;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000033138.1;CLNDSDB=MedGen:OMIM;CLNDSDBID=C3554456:615082 ID=CM1212920;DIS=Altered cis-3-hexen-1-ol detection;TAG=FP;PUB=22714804 FP Uncertain 6_29080344_G->A 6 29080344 29080344 G A snp 6584.77 1/1 99 233 1 232 1.0 intergenic rs3749977 LOC100129636 AU 0.371605 0.252 0.327033 0.2972 0.2283 0.61 T 0.0 P -0.989 T 0.006 T 0.014 T CLINSIG=pathogenic;CLNDBN=C3HEX\x2c_ability_to_smell;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000033139.1;CLNDSDB=MedGen:OMIM;CLNDSDBID=C3554456:615082 ID=CM1212921;DIS=Altered cis-3-hexen-1-ol detection;TAG=FP;PUB=22714804 FP Uncertain 6_29080349_A->G 6 29080349 29080349 A G snp 6558.77 1/1 99 229 0 229 1.0 intergenic LOC100129636 AU 0.751597 0.6071 0.837820 0.8204 0.5649 1 T 0.0 P -1.107 T ID=CM141892;DIS=Altered receptor function;TAG=FP;PUB=24316890 FP Uncertain 6_29080450_G->A 6 29080450 29080450 G A snp 2264.77 1/1 99 67 0 67 1.0 intergenic LOC100129636 AU 0.71246 0.6071 0.795747 0.8038 0.5641 0.16 T 0.0 P -1.104 T ID=CM141893;DIS=Altered receptor function;TAG=FP;PUB=24316890 FP Uncertain 6_29141743_A->G 6 29141743 29141743 A G snp 6135.77 1/1 99 204 0 204 1.0 intergenic LOC100129636 AU 0.941494 0.9931 0.950838 0.9663 0.9896 0.06 T 0.0 P -0.953 T ID=CM141886;DIS=Altered receptor function;TAG=FP;PUB=24316890 FP Uncertain 6_29141772_A->G 6 29141772 29141772 A G snp 6374.77 1/1 99 203 1 202 1.0 intergenic LOC100129636 AU 0.749201 0.5942 0.835219 0.8190 0.5549 Uncertain 6_29231172_G->A 6 29231172 29231172 G A snp 54.74 1/1 6 2 0 2 1.0 intergenic LOC100129636 AU 0.743211 0.5923 Uncertain 6_29274486_T->C 6 29274486 29274486 T C snp 1644.77 0/1 99 171 97 74 0.43 intergenic LOC100129636 AU 0.36901 0.3244 0.448697 0.4733 0.3181 0.08 T 0.0 P -1.003 T 0.001 T 0.002 T Uncertain 6_29275507_T->C 6 29275507 29275507 T C snp 1637.77 1/1 99 49 0 49 1.0 intergenic LOC100129636 AU 0.167332 0.1538 Uncertain 6_29323259_G->A 6 29323259 29323259 G A snp 5210.77 1/1 99 172 0 172 1.0 intergenic LOC100129636 AU 0.957867 1 0.954944 0.9736 0.9998 Uncertain 6_29364508_T->C 6 29364508 29364508 T C snp 258.77 0/1 99 15 7 8 0.53 intergenic LOC100129636 AU 0.0147764 0.0208 0.001066 0.0127 0.0174 0 D 1.000 N -0.935 T 0.987 D 0.873 D Uncertain 6_29364615_G->T 6 29364615 29364615 G T snp 2102.77 0/1 99 147 64 83 0.56 intergenic LOC100129636 AU 0.31889 0.3641 0.364897 0.3857 0.3215 0.01 T 0.0 P -1.112 T 0.991 D 0.873 D Uncertain 6_29364643_T->C 6 29364643 29364643 T C snp 2858.77 0/1 99 211 92 119 0.56 intergenic LOC100129636 AU 0.31889 0.3641 0.363830 0.3858 0.3215 1 T 1.000 P -0.899 T 0.0 T 0.0 T Uncertain 6_29364787_C->T 6 29364787 29364787 C T snp 6835.77 1/1 99 245 0 245 1.0 intergenic LOC100129636 AU 0.978834 1 0.969772 0.9755 0.9998 1 T 0.0 P -0.949 T 0.0 T 0.0 T Uncertain 6_29364815_C->G 6 29364815 29364815 C G snp 3128.77 0/1 99 226 100 126 0.56 intergenic LOC100129636 AU 0.319089 0.3641 0.364983 0.3855 0.3204 1 T 0.0 P -1.000 T 0.0 T 0.0 T Uncertain 6_29364835_T->G 6 29364835 29364835 T G snp 2714.77 0/1 99 191 81 110 0.58 intergenic LOC100129636 AU 0.31889 0.3641 0.364692 0.3847 0.3192 1 T 0.002 P -0.980 T 0.0 T 0.0 T ID=CM035845;DIS=Olfactory receptor deficiency;TAG=FP;PUB=12730696 FP Uncertain 6_29364951_G->A 6 29364951 29364951 G A snp 1724.77 0/1 99 154 87 67 0.44 intergenic LOC100129636 AU 0.319089 0.3641 0.365166 0.3859 0.3218 0.89 T 0.0 P -0.964 T 0.021 T 0.05 T Uncertain 6_29365241_T->C 6 29365241 29365241 T C snp 2268.77 0/1 99 181 85 96 0.53 intergenic LOC100129636 AU 0.329673 0.3641 0.377696 0.3908 0.3216 Uncertain 6_29365423_A->T 6 29365423 29365423 A T snp 420.77 0/1 99 31 17 14 0.45 intergenic LOC100129636 AU 0.383387 0.4345 0.407572 0.4235 0.3744 Uncertain 6_29385237_T->C 6 29385237 29385237 T C snp 3465.77 0/1 99 214 77 137 0.64 intergenic LOC100129636 AU 0.835463 0.7688 0.8651 0.7399 Uncertain 6_29385772_G->C 6 29385772 29385772 G C snp 1712.77 0/1 99 142 75 67 0.47 intergenic LOC100129636 AU 0.768371 0.6994 0.8059 0.6774 Uncertain 6_29394926_C->T 6 29394926 29394926 C T snp 1336.77 0/1 99 100 46 54 0.54 intergenic LOC100129636 AU 0.117812 0.0794 0.117354 0.1468 0.0794 0.67 T 0.0 P -0.932 T 0.034 T 0.026 T Uncertain 6_29407970_T->C 6 29407970 29407970 T C snp 2904.77 0/1 99 250 133 117 0.47 intergenic rs2074469 LOC100129636 AU 0.178714 0.249 0.150427 0.1900 0.2225 0.07 T 0.188 P -0.668 T 0.997 D 0.995 D Uncertain 6_29408313_C->A 6 29408313 29408313 C A snp 3175.77 0/1 99 247 117 130 0.53 intergenic rs2074466 LOC100129636 AU 0.14976 0.246 0.112731 0.1594 0.2217 0.08 T 0.0 P -1.027 T 0.027 T 0.042 T Uncertain 6_29408528_A->G 6 29408528 29408528 A G snp 2709.77 0/1 99 249 140 109 0.44 intergenic rs2074464 LOC100129636 AU 0.591653 0.5774 0.598365 0.5705 0.5632 1 T 0.000 P -1.041 T 0.0 T 0.0 T Uncertain 6_29523676_C->G 6 29523676 29523676 C G snp 2739.77 1/1 99 99 0 99 1.0 intergenic LINC01015 AU 0.800664 0.8012 0.9569 0 D 0.000 P -0.855 T 0.0 T 0.0 T Uncertain 6_29555681_A->G 6 29555681 29555681 A G snp 3634.77 1/1 99 118 0 118 1.0 intergenic rs3095275 LINC01015 AU 0.942692 0.9861 0.863442 0.8811 0.9890 Uncertain 6_29555809_C->T 6 29555809 29555809 C T snp 3713.77 0/1 99 248 96 152 0.61 intergenic rs3129034 LINC01015 AU 0.802915 0.8899 0.707109 0.7012 0.8969 0.14 T 0.0 P -0.975 T 0.003 T 0.012 T Uncertain 6_29555864_C->T 6 29555864 29555864 C T snp 3611.77 0/1 99 250 111 139 0.56 intergenic rs1233387 LINC01015 AU 0.343051 0.4831 0.255569 0.3030 0.4511 0.49 T 0.0 P -0.977 T 0.0 T 0.0 T Uncertain 6_29625001_A->G 6 29625001 29625001 A G snp 981.77 1/1 72 34 0 34 1.0 intergenic LINC01015 AU 0.926917 0.9732 0.867654 0.8793 0.9866 Uncertain 6_29632565_G->C 6 29632565 29632565 G C snp 138.77 0/1 99 21 12 9 0.43 intergenic LINC01015 AU 0.0752796 0.1567 Uncertain 6_29634003_G->C 6 29634003 29634003 G C snp 1035.77 0/1 99 123 74 49 0.4 intergenic LINC01015 AU 0.180511 0.2788 0.189692 0.2219 0.2862 0.08 T 0.000 P -1.088 T 0.514 P 0.138 P Uncertain 6_29634012_A->G 6 29634012 29634012 A G snp 3071.77 1/1 99 111 0 111 1.0 intergenic LINC01015 AU 0.973243 0.998 0.936256 0.9498 0.9981 1 T 0.000 P -0.964 T 0.002 T 0.003 T ID=CM088201;DIS=Multiple sclerosis, association with;TAG=DFP;PUB=17971048 DFP Uncertain 6_29635508_G->A 6 29635508 29635508 G A snp 2309.77 0/1 99 169 73 96 0.57 intergenic LINC01015 AU 0.18111 0.2798 0.185940 Uncertain 6_29635928_T->C 6 29635928 29635928 T C snp 141.03 1/1 12 4 0 4 1.0 intergenic LINC01015 AU 0.803115 0.8393 Uncertain 6_29644970_T->C 6 29644970 29644970 T C snp 968.77 0/1 99 66 30 36 0.55 upstream ZFP57 AU 0.0750799 0.1567 Uncertain 6_29691140_C->G 6 29691140 29691140 C G snp 284.77 0/1 99 23 11 12 0.52 intergenic ZFP57 AU 0.23103 0.2917 Uncertain 6_29691303_G->A 6 29691303 29691303 G A snp 1406.77 0/1 99 135 74 61 0.45 intergenic ZFP57 AU 0.23103 0.2917 0.162201 0.1783 0.3182 Uncertain 6_29691390_C->G 6 29691390 29691390 C G snp 2490.77 1/1 99 90 0 90 1.0 intergenic ZFP57 AU 0.879593 0.9831 0.8471 0.9854 Uncertain 6_29691391_T->C 6 29691391 29691391 T C snp 2503.77 1/1 99 89 0 89 1.0 intergenic rs1632954 ZFP57 AU 0.879593 0.9831 0.618944 0.8472 0.9854 Uncertain 6_29691713_A->C 6 29691713 29691713 A C snp 2016.77 0/1 99 142 62 80 0.56 intergenic ZFP57 AU 0.23123 0.2917 0.149988 0.2644 0.4159 Uncertain 6_29691744_C->G 6 29691744 29691744 C G snp 1635.77 0/1 99 123 56 67 0.54 intergenic ZFP57 AU 0.23103 0.2917 0.135720 0.2362 0.3792 Uncertain 6_29691772_T->C 6 29691772 29691772 T C snp 1018.77 0/1 99 105 58 47 0.45 intergenic ZFP57 AU 0.395168 0.4355 0.4293 0.4486 Uncertain 6_29691774_A->C 6 29691774 29691774 A C snp 981.77 0/1 99 102 56 46 0.45 intergenic ZFP57 AU 0.219249 0.38 0.2309 0.4087 Uncertain 6_29691857_C->G 6 29691857 29691857 C G snp 752.77 0/1 99 59 28 31 0.53 intergenic ZFP57 AU 0.395567 0.4375 0.4933 0.5476 Uncertain 6_29692305_A->G 6 29692305 29692305 A G snp 292.78 1/1 24 8 0 8 1.0 intergenic ZFP57 AU 0.879193 0.9831 Uncertain 6_29692622_C->G 6 29692622 29692622 C G snp 56.74 1/1 6 2 0 2 1.0 intergenic ZFP57 AU 0.23103 0.2917 Uncertain 6_29692634_T->G 6 29692634 29692634 T G snp 90.28 1/1 9 3 0 3 1.0 intergenic ZFP57 AU 0.879393 0.9831 Uncertain 6_29692729_T->G 6 29692729 29692729 T G snp 932.77 0/1 99 62 27 35 0.56 intergenic ZFP57 AU 0.23143 0.2917 Uncertain 6_29693011_C->T 6 29693011 29693011 C T snp 1216.77 1/1 60 41 1 40 0.98 intergenic ZFP57 AU 0.879393 0.9831 0.815441 0.8474 0.9860 1 T 0.0 P -0.941 T 0.0 T 0.0 T Uncertain 6_29693113_C->T 6 29693113 29693113 C T snp 1426.77 0/1 99 130 67 63 0.48 intergenic ZFP57 AU 0.230831 0.2917 0.170075 0.1779 0.3185 Uncertain 6_29693499_A->G 6 29693499 29693499 A G snp 146.77 0/1 63 9 4 5 0.56 downstream HLA-F-AS1 AU 0.230831 0.2917 Uncertain 6_29693726_G->T 6 29693726 29693726 G T snp 802.77 0/1 99 90 56 34 0.38 downstream rs114325231 HLA-F-AS1 AU 0.0756789 0.1567 0.045554 0.0685 0.1756 Uncertain 6_29694044_-->G 6 29694044 29694044 - G indel 1006.73 0/1 99 107 52 55 0.51 downstream rs3835204 HLA-F-AS1 AU 0.229233 0.2907 0.167754 0.1758 0.3160 Uncertain 6_29694570_A->G 6 29694570 29694570 A G snp 603.77 0/1 99 48 22 26 0.54 ncRNA_exonic HLA-F-AS1 AU 0.230831 0.2917 Uncertain 6_29694680_A->C 6 29694680 29694680 A C snp 672.77 0/1 99 76 46 30 0.39 ncRNA_exonic HLA-F-AS1 AU 0.230831 0.2917 0.114758 0.1778 0.3184 0 D 0.047 P -0.785 T 0.982 D 0.712 D Uncertain 6_29694681_A->T 6 29694681 29694681 A T snp 680.77 0/1 99 76 46 30 0.39 ncRNA_exonic HLA-F-AS1 AU 0.230831 0.2917 0.116998 0.1778 0.3180 0 D 0.747 P -1.060 T 0.982 D 0.844 D Uncertain 6_29695713_C->T 6 29695713 29695713 C T snp 347.77 0/1 99 23 8 15 0.65 ncRNA_intronic HLA-F-AS1 AU 0.394569 0.4355 0.429020 0.4237 0.4136 Uncertain 6_29695808_A->G 6 29695808 29695808 A G snp 683.77 0/1 99 75 43 32 0.43 ncRNA_intronic HLA-F-AS1 AU 0.0756789 0.1567 0.044995 0.0695 0.1783 Uncertain 6_29695854_G->A 6 29695854 29695854 G A snp 856.77 0/1 99 77 35 42 0.55 ncRNA_intronic HLA-F-AS1 AU 0.394569 0.4355 0.429194 0.4240 0.4141 0.51 T 0.000 P -1.021 T 0.092 T 0.011 T Uncertain 6_29695977_A->- 6 29695977 29695977 A - indel 212.73 0/1 99 15 6 9 0.6 ncRNA_intronic HLA-F-AS1 AU 0.230831 0.2917 Uncertain 6_29704083_C->T 6 29704083 29704083 C T snp 4014.77 1/1 99 153 0 153 1.0 ncRNA_intronic HLA-F-AS1 AU 0.869609 0.9831 Uncertain 6_29704259_A->T 6 29704259 29704259 A T snp 470.77 0/1 99 44 25 19 0.43 ncRNA_intronic HLA-F-AS1 AU 0.369808 0.4415 Uncertain 6_29760029_G->C 6 29760029 29760029 G C snp 3120.77 0/1 99 247 114 133 0.54 intergenic HLA-F-AS1 AU 0.0876597 0.1954 0.0774 0.1931 Uncertain 6_29760536_G->A 6 29760536 29760536 G A snp 589.77 0/1 99 52 25 27 0.52 intergenic HLA-F-AS1 AU 0.0872604 0.1944 Uncertain 6_29794658_G->A 6 29794658 29794658 G A snp 728.77 0/1 99 51 26 25 0.49 intergenic HLA-F-AS1 AU 0.543131 0.6012 Uncertain 6_29794860_C->T 6 29794860 29794860 C T snp 1059.77 0/1 99 86 40 46 0.53 intergenic HLA-F-AS1 AU 0.543131 0.6012 0.476274 0.5171 0.6174 Uncertain 6_29794897_G->C 6 29794897 29794897 G C snp 1205.77 1/1 87 42 0 42 1.0 intergenic HLA-F-AS1 AU 0.873403 0.9762 ID=CR035865;DIS=Miscarriage, increased risk, association with;TAG=DFP;PUB=12721954 DFP Uncertain 6_29794906_T->G 6 29794906 29794906 T G snp 514.77 0/1 99 36 16 20 0.56 intergenic HLA-F-AS1 AU 0.544329 0.6032 Uncertain 6_29794933_A->G 6 29794933 29794933 A G snp 335.77 0/1 99 26 13 13 0.5 intergenic HLA-F-AS1 AU 0.544329 0.6032 Uncertain 6_29794956_G->T 6 29794956 29794956 G T snp 149.77 0/1 99 13 8 5 0.38 intergenic HLA-F-AS1 AU 0.544329 0.6032 Uncertain 6_29795636_G->A 6 29795636 29795636 G A snp 470.77 0/1 99 72 45 27 0.38 intergenic HLA-F-AS1 AU 0.544329 0.6032 0.479265 0.4994 0.6034 Uncertain 6_29795657_G->A 6 29795657 29795657 G A snp 446.77 0/1 99 68 43 25 0.37 intergenic HLA-F-AS1 AU 0.544329 0.6032 0.479265 0.4995 0.6028 Uncertain 6_29795720_A->G 6 29795720 29795720 A G snp 1405.77 1/1 99 53 0 53 1.0 intergenic HLA-F-AS1 AU 0.902157 0.9762 0.865174 0.8716 0.9791 Uncertain 6_29795747_G->C 6 29795747 29795747 G C snp 787.77 0/1 99 51 17 34 0.67 intergenic HLA-F-AS1 AU 0.254593 0.3472 Uncertain 6_29795751_C->T 6 29795751 29795751 C T snp 744.77 0/1 99 52 18 34 0.65 intergenic HLA-F-AS1 AU 0.254593 0.3472 Uncertain 6_29795768_T->C 6 29795768 29795768 T C snp 274.77 0/1 99 50 35 15 0.3 intergenic HLA-F-AS1 AU 0.598243 0.6111 Uncertain 6_29795993_G->A 6 29795993 29795993 G A snp 1503.77 0/1 99 151 81 70 0.46 intergenic HLA-F-AS1 AU 0.544329 0.6032 0.479384 0.4985 0.6029 Uncertain 6_29796103_T->C 6 29796103 29796103 T C snp 1379.77 0/1 99 111 55 56 0.5 intergenic HLA-F-AS1 AU 0.623403 0.619 0.547512 0.5525 0.6169 Uncertain 6_29796115_A->C 6 29796115 29796115 A C snp 1072.77 0/1 99 97 51 46 0.47 intergenic HLA-F-AS1 AU 0.623403 0.619 0.548460 0.5481 0.6152 Uncertain 6_29796126_-->C 6 29796126 29796126 - C indel 1106.73 0/1 99 87 43 44 0.51 intergenic HLA-F-AS1 AU 0.568091 0.6111 0.479332 0.4914 0.6035 Uncertain 6_29796152_G->C 6 29796152 29796152 G C snp 940.77 0/1 99 69 33 36 0.52 intergenic HLA-F-AS1 AU 0.568091 0.6111 Uncertain 6_29796235_A->- 6 29796235 29796235 A - indel 602.73 0/1 99 55 35 20 0.36 intergenic HLA-F-AS1 AU 0.542931 0.6022 Uncertain 6_29796257_C->T 6 29796257 29796257 C T snp 573.77 0/1 99 72 47 25 0.35 intergenic HLA-F-AS1 AU 0.598243 0.6101 Uncertain 6_29796306_G->A 6 29796306 29796306 G A snp 993.77 0/1 99 107 64 43 0.4 intergenic HLA-F-AS1 AU 0.543131 0.6032 0.478959 0.5010 0.6040 Uncertain 6_29796369_A->T 6 29796369 29796369 A T snp 1202.77 0/1 99 133 76 57 0.43 intergenic HLA-F-AS1 AU 0.0876597 0.1954 0.045508 0.0738 0.1894 Uncertain 6_29796640_T->C 6 29796640 29796640 T C snp 1564.77 0/1 99 137 71 66 0.48 intergenic HLA-F-AS1 AU 0.598043 0.6101 0.536620 0.5440 0.6085 Uncertain 6_29796685_T->C 6 29796685 29796685 T C snp 1284.77 0/1 99 109 57 52 0.48 intergenic HLA-F-AS1 AU 0.544129 0.6022 Uncertain 6_29796749_C->A 6 29796749 29796749 C A snp 611.77 0/1 99 40 18 22 0.55 intergenic HLA-F-AS1 AU 0.0872604 0.1935 Uncertain 6_29796768_T->C 6 29796768 29796768 T C snp 564.77 1/1 45 18 0 18 1.0 intergenic HLA-F-AS1 AU 0.804313 0.9484 Uncertain 6_29797173_A->G 6 29797173 29797173 A G snp 2704.77 0/1 99 241 121 120 0.5 intergenic HLA-F-AS1 AU 0.598043 0.6101 0.540904 0.5438 0.6083 Uncertain 6_29797553_G->C 6 29797553 29797553 G C snp 2954.77 0/1 99 230 99 131 0.57 intergenic HLA-F-AS1 AU 0.544129 0.6022 0.486545 0.4967 0.6024 Uncertain 6_29797696_A->G 6 29797696 29797696 A G snp 2336.77 0/1 99 158 69 89 0.56 intergenic HLA-F-AS1 AU 0.598043 0.6101 0.540827 0.5435 0.6083 Uncertain 6_29797933_C->T 6 29797933 29797933 C T snp 411.77 0/1 99 21 8 13 0.62 intergenic HLA-F-AS1 AU 0.544129 0.6022 Uncertain 6_29797951_A->G 6 29797951 29797951 A G snp 552.77 0/1 99 31 13 18 0.58 intergenic HLA-F-AS1 AU 0.544129 0.6022 Uncertain 6_29798039_G->A 6 29798039 29798039 G A snp 2023.77 0/1 99 157 68 89 0.57 intergenic HLA-F-AS1 AU 0.544129 0.6022 Uncertain 6_29798083_C->T 6 29798083 29798083 C T snp 2497.77 0/1 99 198 86 112 0.57 intergenic HLA-F-AS1 AU 0.0876597 0.1954 Uncertain 6_29798140_A->G 6 29798140 29798140 A G snp 2399.77 0/1 99 182 85 97 0.53 intergenic HLA-F-AS1 AU 0.527356 0.5972 0.462678 0.4798 0.5978 Uncertain 6_29855581_CCCTGA->- 6 29855581 29855586 CCCTGA - indel 8071.73 1/1 99 121 0 121 1.0 intergenic HLA-F-AS1 AU 0.770567 0.876 0.7997 0.9740 ID=COSM1329119;OCCURENCE=1(ovary) Uncertain 6_29855677_G->A 6 29855677 29855677 G A snp 1551.77 1/1 99 50 0 50 1.0 intergenic HLA-F-AS1 AU 0.780351 0.7937 Uncertain 6_29855682_T->G 6 29855682 29855682 T G snp 1511.77 1/1 99 48 0 48 1.0 intergenic HLA-F-AS1 AU 0.800719 0.8353 Uncertain 6_29855706_C->G 6 29855706 29855706 C G snp 1200.77 1/1 87 40 0 40 1.0 intergenic HLA-F-AS1 AU 0.800519 0.8353 0.8027 0.8241 Uncertain 6_29855733_C->T 6 29855733 29855733 C T snp 405.77 0/1 99 32 15 17 0.53 intergenic HLA-F-AS1 AU 0.101038 0.2321 0.0965 0.2442 Uncertain 6_29855849_A->C 6 29855849 29855849 A C snp 967.77 0/1 99 82 39 43 0.52 intergenic HLA-F-AS1 AU 0.429712 0.5228 0.1802 0.1995 Uncertain 6_29855856_T->C 6 29855856 29855856 T C snp 783.77 0/1 99 80 44 36 0.45 intergenic HLA-F-AS1 AU 0.389177 0.4623 0.1191 0.1288 Uncertain 6_29855858_C->A 6 29855858 29855858 C A snp 705.77 0/1 99 81 46 35 0.43 intergenic HLA-F-AS1 AU 0.313299 0.378 0.1160 0.1278 Uncertain 6_29855862_A->G 6 29855862 29855862 A G snp 887.77 0/1 99 82 43 39 0.48 intergenic HLA-F-AS1 AU 0.0005 0 Uncertain 6_29855863_G->A 6 29855863 29855863 G A snp 870.77 0/1 99 82 43 39 0.48 intergenic HLA-F-AS1 AU 0.0004 0 Uncertain 6_29855864_A->T 6 29855864 29855864 A T snp 763.77 0/1 99 84 44 40 0.48 intergenic HLA-F-AS1 AU 8.535e-05 0.0003 Uncertain 6_29855901_A->G 6 29855901 29855901 A G snp 1376.77 0/1 99 124 58 66 0.53 intergenic HLA-F-AS1 AU 0.704473 0.6062 0.7105 0.5828 Uncertain 6_29855902_G->A 6 29855902 29855902 G A snp 1220.77 0/1 99 125 66 59 0.47 intergenic HLA-F-AS1 AU 0.102037 0.2371 0.0866 0.2407 Uncertain 6_29856022_G->A 6 29856022 29856022 G A snp 551.77 0/1 99 69 43 26 0.38 intergenic HLA-F-AS1 AU 0.419129 0.4613 0.3872 0.4127 Uncertain 6_29856092_A->T 6 29856092 29856092 A T snp 124.77 0/1 99 21 16 5 0.24 intergenic HLA-F-AS1 AU 0.675519 0.5496 Uncertain 6_29856109_C->T 6 29856109 29856109 C T snp 443.77 0/1 79 18 3 15 0.83 intergenic HLA-F-AS1 AU 0.103834 0.2391 Uncertain 6_29856178_C->T 6 29856178 29856178 C T snp 893.77 1/1 32 35 2 33 0.94 intergenic HLA-F-AS1 AU 0.897165 0.9395 Uncertain 6_29856199_A->G 6 29856199 29856199 A G snp 528.77 0/1 99 45 20 25 0.56 intergenic HLA-F-AS1 AU 0.104832 0.2411 0.0834 0.2124 Uncertain 6_29856204_G->T 6 29856204 29856204 G T snp 589.77 0/1 99 46 21 25 0.54 intergenic HLA-F-AS1 AU 0.102636 0.2381 0.0820 0.2084 Uncertain 6_29856330_G->A 6 29856330 29856330 G A snp 1028.77 0/1 99 68 27 41 0.6 intergenic HLA-F-AS1 AU 0.324681 0.4177 0.3377 0.4547 Uncertain 6_29856347_C->T 6 29856347 29856347 C T snp 862.77 0/1 99 59 21 38 0.64 intergenic HLA-F-AS1 AU 0.757388 0.6915 0.7507 0.7294 Uncertain 6_29856427_G->A 6 29856427 29856427 G A snp 1602.77 0/1 99 75 21 54 0.72 intergenic HLA-F-AS1 AU 0.3257 0.4624 Uncertain 6_29856439_T->G 6 29856439 29856439 T G snp 693.77 0/1 99 79 53 26 0.33 intergenic HLA-F-AS1 AU 0.316494 0.2837 0.2951 0.2599 Uncertain 6_29856445_C->T 6 29856445 29856445 C T snp 707.77 0/1 99 79 51 28 0.35 intergenic HLA-F-AS1 AU 0.314696 0.2837 0.2948 0.2584 Uncertain 6_29856546_G->T 6 29856546 29856546 G T snp 2837.77 0/1 99 250 131 119 0.48 intergenic HLA-F-AS1 AU 0.104633 0.2411 0.0887 0.2377 Uncertain 6_29856550_C->G 6 29856550 29856550 C G snp 2937.77 0/1 99 250 120 130 0.52 intergenic HLA-F-AS1 AU 0.55012 0.4663 0.5840 0.5247 Uncertain 6_29856633_T->C 6 29856633 29856633 T C snp 2338.77 0/1 99 242 139 103 0.43 intergenic HLA-F-AS1 AU 0.679113 0.5625 0.7114 0.6356 Uncertain 6_29856686_C->G 6 29856686 29856686 C G snp 1141.77 0/1 99 133 84 49 0.37 intergenic HLA-F-AS1 AU 0.648363 0.5605 0.6829 0.6079 Uncertain 6_29856693_C->T 6 29856693 29856693 C T snp 1011.77 0/1 99 113 70 43 0.38 intergenic HLA-F-AS1 AU 0.402756 0.4871 0.3825 0.4832 Uncertain 6_29856718_G->C 6 29856718 29856718 G C snp 703.77 0/1 99 71 42 29 0.41 intergenic HLA-F-AS1 AU 0.679113 0.5625 0.6947 0.6374 Uncertain 6_29857236_G->- 6 29857236 29857236 G - indel 177.73 0/1 99 13 7 6 0.46 intergenic HLA-F-AS1 AU 0.60004 0.5129 0.4958 0.3985 Uncertain 6_29857237_G->C 6 29857237 29857237 G C snp 141.77 0/1 99 17 11 6 0.35 intergenic HLA-F-AS1 AU 0.60004 0.5129 0.4968 0.3983 Uncertain 6_29857249_G->A 6 29857249 29857249 G A snp 256.77 0/1 99 21 12 9 0.43 intergenic HLA-F-AS1 AU 0.26877 0.4008 0.2482 0.3453 Uncertain 6_29857359_C->A 6 29857359 29857359 C A snp 2098.77 0/1 99 178 86 92 0.52 intergenic HLA-F-AS1 AU 0.613219 0.5208 0.6321 0.5493 Uncertain 6_29857410_T->C 6 29857410 29857410 T C snp 2741.77 0/1 99 218 102 116 0.53 intergenic HLA-F-AS1 AU 0.674121 0.5486 0.7021 0.5743 Uncertain 6_29857502_A->C 6 29857502 29857502 A C snp 6519.77 1/1 99 228 0 228 1.0 intergenic HLA-F-AS1 AU 0.802316 0.8343 0.8028 0.8307 Uncertain 6_29857504_G->A 6 29857504 29857504 G A snp 2955.77 0/1 99 230 105 125 0.54 intergenic HLA-F-AS1 AU 0.672923 0.5486 0.6909 0.5566 Uncertain 6_29857730_G->C 6 29857730 29857730 G C snp 981.77 1/1 72 29 0 29 1.0 intergenic HLA-F-AS1 AU 0.914137 0.9792 Uncertain 6_29857852_A->G 6 29857852 29857852 A G snp 680.77 1/1 51 20 0 20 1.0 intergenic HLA-F-AS1 AU 0.915735 0.9802 Uncertain 6_29857890_T->C 6 29857890 29857890 T C snp 1554.77 1/1 99 52 0 52 1.0 intergenic HLA-F-AS1 AU 0.810104 0.8522 Uncertain 6_29857901_T->C 6 29857901 29857901 T C snp 1077.77 0/1 99 59 20 39 0.66 intergenic HLA-F-AS1 AU 0.65595 0.5268 Uncertain 6_29857919_A->G 6 29857919 29857919 A G snp 2023.77 1/1 99 71 0 71 1.0 intergenic HLA-F-AS1 AU 0.776957 0.8423 Uncertain 6_29857965_G->A 6 29857965 29857965 G A snp 2016.77 0/1 99 126 42 84 0.67 intergenic HLA-F-AS1 AU 0.694688 0.5923 Uncertain 6_29858213_G->C 6 29858213 29858213 G C snp 3720.77 1/1 99 122 0 122 1.0 intergenic HLA-F-AS1 AU 0.914337 0.9792 0.8656 0.9882 Uncertain 6_29858218_A->G 6 29858218 29858218 A G snp 1329.77 0/1 99 120 68 52 0.43 intergenic HLA-F-AS1 AU 0.674521 0.5476 0.6999 0.5717 Uncertain 6_29858256_T->G 6 29858256 29858256 T G snp 1030.77 0/1 99 96 58 38 0.4 intergenic HLA-F-AS1 AU 0.654553 0.5308 0.6974 0.5661 Uncertain 6_29858294_A->G 6 29858294 29858294 A G snp 944.77 0/1 99 83 40 43 0.52 intergenic HLA-F-AS1 AU 0.721246 0.6458 0.6935 0.5714 Uncertain 6_29858468_G->T 6 29858468 29858468 G T snp 303.77 0/1 99 22 11 11 0.5 intergenic HLA-F-AS1 AU 0.598243 0.499 Uncertain 6_29858475_C->A 6 29858475 29858475 C A snp 63.77 0/1 92 11 8 3 0.27 intergenic HLA-F-AS1 AU 0.60004 0.5 Uncertain 6_29858476_T->C 6 29858476 29858476 T C snp 68.77 0/1 97 11 8 3 0.27 intergenic HLA-F-AS1 AU 0.680511 0.5863 Uncertain 6_29858477_G->A 6 29858477 29858477 G A snp 65.77 0/1 94 11 8 3 0.27 intergenic HLA-F-AS1 AU 0.601038 0.501 Uncertain 6_29910276_T->G 6 29910276 29910276 T G snp 106.77 0/1 93 10 5 5 0.5 intergenic rs41560714 HCG4B AU 0.533347 0.4851 Uncertain 6_29910277_G->C 6 29910277 29910277 G C snp 66.77 0/1 95 10 5 5 0.5 intergenic rs9260120 HCG4B AU 0.101837 0.2629 0.043172 Uncertain 6_29910286_C->T 6 29910286 29910286 C T snp 307.78 1/1 27 14 0 14 1.0 intergenic rs2916801 HCG4B AU 0.873003 0.9692 0.818539 0.8464 0.9660 Uncertain 6_29910324_G->C 6 29910324 29910324 G C snp 286.77 0/1 99 30 16 14 0.47 intergenic rs114945359 HCG4B AU 0.101837 0.2629 0.043093 0.0786 0.2660 Uncertain 6_29910358_C->G 6 29910358 29910358 C G snp 650.77 0/1 99 46 19 27 0.59 intergenic rs1143146 HCG4B AU 0.505391 0.5397 0.479070 0.5044 0.5116 1 T 0.0 P -0.984 T 0.0 T 0.003 T Uncertain 6_29910378_C->T 6 29910378 29910378 C T snp 693.77 0/1 99 53 23 30 0.57 intergenic rs41546314 HCG4B AU 0.244409 0.2917 0.245649 0.2745 0.2883 Uncertain 6_29910429_C->G 6 29910429 29910429 C G snp 604.77 0/1 99 52 24 28 0.54 intergenic rs9260123 HCG4B AU 0.468930 0.5067 0.5212 Uncertain 6_29910437_C->T 6 29910437 29910437 C T snp 599.77 0/1 99 51 25 26 0.51 intergenic rs9260124 HCG4B AU 0.344350 0.3782 0.3239 Uncertain 6_29910450_G->C 6 29910450 29910450 G C snp 629.77 0/1 99 52 25 27 0.52 intergenic rs17885299 HCG4B AU 0.244409 0.2907 0.2741 0.2912 Uncertain 6_29910457_T->G 6 29910457 29910457 T G snp 546.77 0/1 99 49 23 26 0.53 intergenic rs9260125 HCG4B AU 0.682508 0.6855 0.6186 0.6610 Uncertain 6_29910478_G->C 6 29910478 29910478 G C snp 468.77 0/1 99 43 21 22 0.51 intergenic rs9260127 HCG4B AU 0.648562 0.6587 0.5449 0.5658 Uncertain 6_29910482_G->A 6 29910482 29910482 G A snp 411.77 0/1 99 42 22 20 0.48 intergenic rs9256980 HCG4B AU 0.508986 0.5397 0.4481 0.4630 Uncertain 6_29910496_C->G 6 29910496 29910496 C G snp 1308.77 1/1 96 43 0 43 1.0 intergenic rs2904759 HCG4B AU 0.926917 0.9841 0.836393 0.8392 0.9658 Uncertain 6_29910508_A->G 6 29910508 29910508 A G snp 400.77 0/1 99 41 22 19 0.46 intergenic rs9260129 HCG4B AU 0.687101 0.6905 0.5458 0.5812 Uncertain 6_29910522_G->C 6 29910522 29910522 G C snp 408.77 0/1 99 40 20 20 0.5 intergenic rs9260130 HCG4B AU 0.688498 0.6925 0.5763 0.6078 Uncertain 6_29910527_C->T 6 29910527 29910527 C T snp 362.77 0/1 99 41 21 20 0.49 intergenic rs17879990 HCG4B AU 0.3981 0.4608 Uncertain 6_29910538_C->T 6 29910538 29910538 C T snp 202.77 0/1 99 38 28 10 0.26 intergenic rs1136657 HCG4B AU 0.2549 0.2589 Uncertain 6_29910558_T->A 6 29910558 29910558 T A snp 334.77 0/1 99 39 12 27 0.69 intergenic rs2075684 HCG4B AU 0.220248 0.3333 0.1922 0.3106 1 T 1 N -1.003 T 0.097 T 0.374 T Uncertain 6_29910562_A->C 6 29910562 29910562 A C snp 402.77 0/1 99 40 22 18 0.45 intergenic rs1059418 HCG4B AU 0.20008 0.3284 0.1605 0.3128 Uncertain 6_29910587_G->A 6 29910587 29910587 G A snp 461.77 0/1 99 43 24 19 0.44 intergenic rs41549014 HCG4B AU 0.00638978 0.0317 0.0024 0.0331 0 D 1 N -0.929 T 0.999 D 0.998 D Uncertain 6_29910604_C->A 6 29910604 29910604 C A snp 496.77 0/1 99 45 22 23 0.51 intergenic rs12721675 HCG4B AU 0.382388 0.3899 0.3858 0.4371 Uncertain 6_29910700_G->T 6 29910700 29910700 G T snp 305.77 0/1 99 54 37 17 0.31 intergenic rs1059452 HCG4B AU 0.2528 0.2658 Uncertain 6_29910716_C->G 6 29910716 29910716 C G snp 407.77 0/1 99 62 43 19 0.31 intergenic rs1059455 HCG4B AU 0.392372 0.4851 0.3787 0.4406 0.29 T 0.0 P -0.956 T 0.0 T 0.0 T Uncertain 6_29910717_A->G 6 29910717 29910717 A G snp 393.77 0/1 99 64 43 21 0.33 intergenic rs1064588 HCG4B AU 0.394369 0.3839 0.4212 0.4535 1 T 0.0 P -0.925 T 0.0 T 0.001 T Uncertain 6_29910730_T->A 6 29910730 29910730 T A snp 405.77 0/1 99 61 41 20 0.33 intergenic rs199474436 HCG4B AU 0.394569 0.4891 0.3784 0.4535 1 T 0.0 P -1.022 T 0.002 T 0.019 T Uncertain 6_29910742_G->C 6 29910742 29910742 G C snp 474.77 0/1 99 61 40 21 0.34 intergenic rs78306866 HCG4B AU 0.680711 0.6706 0.638268 0.6575 0.6273 1 T 0.0 P -0.981 T 0.001 T 0.003 T Uncertain 6_29910752_G->C 6 29910752 29910752 G C snp 487.77 0/1 99 61 39 22 0.36 intergenic rs1136683 HCG4B AU 0.228035 0.2966 0.231895 0.2520 0.2768 0.39 T 0.0 P -0.874 T 0.829 T 0.966 P Uncertain 6_29910801_C->A 6 29910801 29910801 C A snp 851.77 0/1 99 55 19 36 0.65 intergenic rs1136692 HCG4B AU 0.296326 0.3929 0.255354 0.2787 0.3653 0.19 T 0.0 P -1.046 T 0.0 T 0.002 T Uncertain 6_29910820_G->C 6 29910820 29910820 G C snp 1212.77 1/1 87 44 0 44 1.0 intergenic rs9260142 HCG4B AU 0.854832 0.9683 0.751433 0.8342 0.9589 Uncertain 6_29910834_G->C 6 29910834 29910834 G C snp 989.77 1/1 72 37 0 37 1.0 intergenic rs63225861 HCG4B AU 0.908746 0.9841 0.836210 0.8656 0.9824 Uncertain 6_29910839_C->T 6 29910839 29910839 C T snp 233.77 0/1 99 34 19 15 0.44 intergenic rs9260144 HCG4B AU 0.3869 0.4273 Uncertain 6_29910865_C->G 6 29910865 29910865 C G snp 290.77 0/1 99 20 10 10 0.5 intergenic rs41540614 HCG4B AU 0.103035 0.2659 Uncertain 6_29910892_A->G 6 29910892 29910892 A G snp 146.77 0/1 99 12 7 5 0.42 intergenic rs9260145 HCG4B AU Uncertain 6_29910986_G->A 6 29910986 29910986 G A snp 285.77 0/1 99 29 17 12 0.41 intergenic rs17882350 HCG4B AU 0.244409 0.2897 Uncertain 6_29911000_T->C 6 29911000 29911000 T C snp 882.77 ./1 99 31 0 31 1.0 intergenic rs9256982 HCG4B AU 0.410743 0.6012 0.4751 0.7181 Uncertain 6_29911000_T->G 6 29911000 29911000 T G snp 882.77 ./1 99 31 0 31 1.0 intergenic rs9256982 HCG4B AU 0.464657 0.369 0.3620 0.2436 Uncertain 6_29911005_G->A 6 29911005 29911005 G A snp 520.77 0/1 99 33 14 19 0.58 intergenic rs41547618 HCG4B AU 0.104433 0.2698 0.1235 0.3430 Uncertain 6_29911011_C->T 6 29911011 29911011 C T snp 490.77 0/1 99 35 15 20 0.57 intergenic rs41562213 HCG4B AU 0.104433 0.2698 0.1285 0.3557 Uncertain 6_29911019_T->C 6 29911019 29911019 T C snp 434.77 0/1 99 42 24 18 0.43 intergenic rs9260149 HCG4B AU 0.34345 0.3244 0.1480 0.0638 Uncertain 6_29911037_G->C 6 29911037 29911037 G C snp 586.77 0/1 99 53 29 24 0.45 intergenic rs9260152 HCG4B AU 0.350839 0.3363 0.146972 0.1443 0.0561 Uncertain 6_29911056_A->G 6 29911056 29911056 A G snp 641.77 0/1 99 62 35 27 0.44 intergenic rs1071743 HCG4B AU 0.219649 0.2847 0.0408 0.0378 0.56 T 1 N -0.871 T 0.0 T 0.003 T Uncertain 6_29911063_T->G 6 29911063 29911063 T G snp 571.77 0/1 99 64 38 26 0.41 intergenic rs199474485 HCG4B AU 0.311901 0.3294 0.1201 0.0829 1 T 0.0 P -1.040 T 0.026 T 0.059 T Uncertain 6_29911064_A->G 6 29911064 29911064 A G snp 614.77 0/1 99 64 38 26 0.41 intergenic rs1136695 HCG4B AU 0.661142 0.6865 0.486388 0.5541 0.6094 0.21 T 0.0 P -1.011 T 0.0 T 0.013 T Uncertain 6_29911086_T->C 6 29911086 29911086 T C snp 1044.77 0/1 99 81 36 45 0.56 intergenic rs1136700 HCG4B AU 0.302716 0.3264 0.319471 0.3476 0.3864 1 T 0.0 P -1.071 T 0.0 T 0.001 T Uncertain 6_29911092_G->T 6 29911092 29911092 G T snp 955.77 0/1 99 83 46 37 0.45 intergenic rs1136702 HCG4B AU 0.244409 0.2887 0.1638 0.1380 0.3 T 0.0 P -0.791 T 1.0 D 1.0 D Uncertain 6_29911114_G->A 6 29911114 29911114 G A snp 869.77 0/1 99 94 54 40 0.43 intergenic rs3173420 HCG4B AU 0.64976 0.6766 0.504303 0.5447 0.6412 0.26 T 0.0 P -0.921 T 0.892 T 0.276 P Uncertain 6_29911115_G->C 6 29911115 29911115 G C snp 943.77 0/1 99 93 53 40 0.43 intergenic rs12721717 HCG4B AU 0.416933 0.497 0.3572 0.3990 0.000 P Uncertain 6_29911119_G->T 6 29911119 29911119 G T snp 1064.77 0/1 99 95 51 44 0.46 intergenic rs3173419 HCG4B AU 0.416933 0.497 0.352051 0.3613 0.4045 1 T 0.0 P -1.018 T 0.17 T 0.117 T Uncertain 6_29911154_C->A 6 29911154 29911154 C A snp 1181.77 0/1 99 108 55 53 0.49 intergenic rs1059509 HCG4B AU 0.458466 0.502 0.4481 0.4658 0.33 T 0.000 P -1.173 T 0.009 T 0.037 T Uncertain 6_29911190_G->A 6 29911190 29911190 G A snp 3197.05 1/1 99 112 2 110 0.98 intergenic rs1059514 HCG4B AU 0.483227 0.5675 0.5036 0.5494 1.000 P Uncertain 6_29911198_T->C 6 29911198 29911198 T C snp 1211.77 0/1 99 111 59 52 0.47 intergenic rs1059516 HCG4B AU 0.3052 0.2719 0.41 T 0.000 P -0.985 T 0.981 D 0.994 D Uncertain 6_29911207_G->A 6 29911207 29911207 G A snp 1140.77 0/1 99 112 61 51 0.46 intergenic rs1059520 HCG4B AU 0.3068 0.2731 0.01 T 0.000 P -0.806 T 0.989 D 0.895 D Uncertain 6_29911228_A->C 6 29911228 29911228 A C snp 2276.77 ./1 99 110 11 99 0.9 intergenic rs9256983 HCG4B AU 0.189497 0.2817 0.1836 0.2612 0.39 T 1 N -0.859 T 0.0 T 0.003 T Uncertain 6_29911228_A->T 6 29911228 29911228 A T snp 2276.77 ./1 99 110 11 99 0.9 intergenic rs9256983 HCG4B AU 0.598043 0.5893 0.5353 0.5776 1 T 0.0 P -0.515 T 0.0 T 0.001 T Uncertain 6_29911239_T->C 6 29911239 29911239 T C snp 1687.77 0/1 99 111 48 63 0.57 intergenic rs9260155 HCG4B AU 0.384784 0.5397 0.3403 0.4622 Uncertain 6_29911240_T->A 6 29911240 29911240 T A snp 1764.77 0/1 99 114 49 65 0.57 intergenic rs9260156 HCG4B AU 0.228634 0.4732 0.2286 0.4428 1.000 P ID=CM1412095;DIS=HLA-A null allele;TAG=FP;PUB=24571476 FP Uncertain 6_29911256_T->G 6 29911256 29911256 T G snp 3470.77 1/1 99 108 0 108 1.0 intergenic rs1059542 HCG4B AU 0.925719 0.9841 0.859639 0.8736 0.9806 1 T 0.0 P -0.847 T 0.0 T 0.0 T Uncertain 6_29911260_A->C 6 29911260 29911260 A C snp 1195.77 0/1 99 104 58 46 0.44 intergenic HCG4B AU 0.206669 0.3185 0.2187 0.2762 0.1 T 0.0 P -1.055 T 0.72 T 0.44 P Uncertain 6_29911261_C->G 6 29911261 29911261 C G snp 1209.77 0/1 99 104 58 46 0.44 intergenic HCG4B AU 0.207468 0.3185 0.2197 0.2794 0.96 T 0.0 P -0.876 T 0.017 T 0.039 T Uncertain 6_29911296_G->A 6 29911296 29911296 G A snp 310.77 0/1 99 77 62 15 0.19 intergenic rs41559916 HCG4B AU 0.1865 0.1712 0.01 T 0.319 P -1.127 T 1.0 D 1.0 D Uncertain 6_29911306_C->T 6 29911306 29911306 C T snp 327.77 0/1 99 73 58 15 0.21 intergenic rs9391665 HCG4B AU 0.1789 0.1699 0 D 0.0 P -0.941 T 1.0 D 0.999 D Uncertain 6_29911319_G->T 6 29911319 29911319 G T snp 327.77 0/1 99 62 48 14 0.23 intergenic rs41554520 HCG4B AU 0.3731 0.2711 Uncertain 6_29911356_G->A 6 29911356 29911356 G A snp 392.77 0/1 99 36 22 14 0.39 intergenic rs3132687 HCG4B AU 0.180112 0.2798 0.151735 0.1756 0.2606 Uncertain 6_29912108_G->C 6 29912108 29912108 G C snp 935.77 0/1 99 99 59 40 0.4 intergenic rs2231095 HCG4B AU 0.448682 0.4167 0.4076 0.4234 0.71 T 0.000 P -0.975 T 0.813 T 0.84 P Uncertain 6_29912147_C->T 6 29912147 29912147 C T snp 1388.77 0/1 99 148 89 59 0.4 intergenic rs1059686 HCG4B AU 0.294905 0.2973 0.2711 Uncertain 6_29912188_T->C 6 29912188 29912188 T C snp 1883.77 0/1 99 206 119 87 0.42 intergenic rs9260184 HCG4B AU 0.3707 0.3172 Uncertain 6_29912204_C->T 6 29912204 29912204 C T snp 1909.77 0/1 99 216 125 91 0.42 intergenic rs2276447 HCG4B AU 0.535543 0.4881 0.5185 0.5043 Uncertain 6_29912228_GGA->- 6 29912228 29912230 GGA - indel 5256.73 0/1 99 230 129 101 0.44 intergenic rs146444598 HCG4B AU 0.46226 0.4177 0.437269 0.4526 0.4100 Uncertain 6_29912280_T->C 6 29912280 29912280 T C snp 2415.77 0/1 99 225 122 103 0.46 intergenic rs1136903 HCG4B AU 0.686302 0.6885 0.636374 0.6575 0.6958 0 D 0.019 P -0.906 T 0.0 T 0.001 T Uncertain 6_29912333_C->T 6 29912333 29912333 C T snp 2213.77 0/1 99 204 107 97 0.48 intergenic rs3179982 HCG4B AU 0.535343 0.4881 0.486012 0.5252 0.5088 0 D 0.0 P -0.913 T 0.998 D 0.995 D Uncertain 6_29912368_C->T 6 29912368 29912368 C T snp 2099.77 0/1 99 183 95 88 0.48 intergenic rs1141891 HCG4B AU 0.683107 0.6885 0.612429 0.6497 0.6966 Uncertain 6_29912398_A->G 6 29912398 29912398 A G snp 1911.77 0/1 99 146 73 73 0.5 intergenic rs9260191 HCG4B AU 0.477327 0.5025 0.5054 Uncertain 6_29912410_G->A 6 29912410 29912410 G A snp 1458.77 0/1 99 127 63 64 0.5 intergenic rs41551619 HCG4B AU 0.102636 0.2629 0.1138 0.3512 Uncertain 6_29912414_G->- 6 29912414 29912414 G - indel 1956.73 0/1 99 125 62 63 0.5 intergenic rs45610038 HCG4B AU 0.526158 0.4861 0.494739 0.5029 0.5055 Uncertain 6_29912451_C->A 6 29912451 29912451 C A snp 820.77 0/1 99 79 38 41 0.52 intergenic rs9260193 HCG4B AU 0.530351 0.4871 0.4850 0.4856 Uncertain 6_29912457_C->G 6 29912457 29912457 C G snp 904.77 0/1 99 77 37 40 0.52 intergenic rs9260194 HCG4B AU 0.53115 0.4871 0.4849 0.4858 Uncertain 6_29912463_A->G 6 29912463 29912463 A G snp 916.77 0/1 99 72 33 39 0.54 intergenic rs9260195 HCG4B AU 0.4103 0.3494 Uncertain 6_29912473_T->C 6 29912473 29912473 T C snp 828.77 0/1 99 60 24 36 0.6 intergenic rs9260196 HCG4B AU 0.533147 0.4871 Uncertain 6_29912477_A->G 6 29912477 29912477 A G snp 832.77 0/1 99 55 23 32 0.58 intergenic rs9260197 HCG4B AU 0.533347 0.4871 Uncertain 6_29912493_G->A 6 29912493 29912493 G A snp 1299.77 ./1 99 45 0 45 1.0 intergenic rs1655894 HCG4B AU 0.732428 0.7014 Uncertain 6_29912493_G->T 6 29912493 29912493 G T snp 1299.77 ./1 99 45 0 45 1.0 intergenic rs1655894 HCG4B AU 0.192692 0.2827 Uncertain 6_29912494_T->C 6 29912494 29912494 T C snp 719.77 0/1 99 43 16 27 0.63 intergenic rs2975059 HCG4B AU 0.30012 0.2976 Uncertain 6_29912502_C->T 6 29912502 29912502 C T snp 669.77 0/1 99 38 14 24 0.63 intergenic rs9260198 HCG4B AU 0.535144 0.4881 Uncertain 6_29912510_T->G 6 29912510 29912510 T G snp 303.77 0/1 99 33 22 11 0.33 intergenic rs1632885 HCG4B AU 0.34345 0.4841 Uncertain 6_29912517_T->C 6 29912517 29912517 T C snp 995.77 1/1 75 26 0 26 1.0 intergenic rs1655895 HCG4B AU 0.925719 0.9841 Uncertain 6_29912754_G->A 6 29912754 29912754 G A snp 534.77 0/1 99 29 9 20 0.69 intergenic rs3823323 HCG4B AU Uncertain 6_29912766_A->T 6 29912766 29912766 A T snp 561.77 0/1 99 35 14 21 0.6 intergenic rs3823324 HCG4B AU 0.433506 0.377 Uncertain 6_29912796_G->A 6 29912796 29912796 G A snp 807.77 0/1 99 55 23 32 0.58 intergenic rs2735103 HCG4B AU 0.306352 0.3338 0.2990 Uncertain 6_29912830_T->C 6 29912830 29912830 T C snp 2322.77 1/1 99 75 0 75 1.0 intergenic rs2571381 HCG4B AU 0.8748 0.9692 0.805286 0.8500 0.9665 Uncertain 6_29912852_T->C 6 29912852 29912852 T C snp 1277.77 0/1 99 98 47 51 0.52 intergenic rs1137296 HCG4B AU 0.686502 0.6885 0.6564 0.6922 Uncertain 6_29912856_A->T 6 29912856 29912856 A T snp 1310.77 0/1 99 103 50 53 0.51 intergenic rs2231119 HCG4B AU 0.686502 0.6885 0.6563 0.6921 0 D 0.0 P -0.921 T 0.0 T 0.001 T Uncertain 6_29912935_C->T 6 29912935 29912935 C T snp 4821.77 1/1 99 176 0 176 1.0 intergenic rs2916802 HCG4B AU 0.94389 0.9841 Uncertain 6_29912944_T->C 6 29912944 29912944 T C snp 5090.77 1/1 99 180 0 180 1.0 intergenic rs2916803 HCG4B AU 0.925719 0.9841 Uncertain 6_29913042_C->T 6 29913042 29913042 C T snp 5540.77 1/1 99 203 0 203 1.0 intergenic rs14288 HCG4B AU 0.925719 0.9841 0.843764 0.8795 0.9899 Uncertain 6_29913067_T->C 6 29913067 29913067 T C snp 2283.77 0/1 99 187 92 95 0.51 intergenic rs3823342 HCG4B AU 0.530152 0.4821 0.5307 0.5117 Uncertain 6_29913074_A->G 6 29913074 29913074 A G snp 5082.77 1/1 99 174 0 174 1.0 intergenic rs9260205 HCG4B AU 0.874601 0.9692 0.8486 0.9662 Uncertain 6_29913078_A->G 6 29913078 29913078 A G snp 4986.77 1/1 99 169 0 169 1.0 intergenic rs41546815 HCG4B AU 0.874601 0.9692 0.782177 0.8486 0.9661 Uncertain 6_29913135_G->C 6 29913135 29913135 G C snp 1656.77 0/1 99 114 56 58 0.51 intergenic rs28749156 HCG4B AU Uncertain 6_29913171_G->A 6 29913171 29913171 G A snp 1570.77 0/1 99 119 61 58 0.49 intergenic rs2975057 HCG4B AU 0.686502 0.6885 Uncertain 6_29913191_T->C 6 29913191 29913191 T C snp 1698.77 0/1 99 122 61 61 0.5 intergenic rs2975055 HCG4B AU 0.680312 0.6875 0.6427 0.6787 Uncertain 6_29913192_G->A 6 29913192 29913192 G A snp 1664.77 0/1 99 122 61 61 0.5 intergenic rs9260210 HCG4B AU 0.595048 0.5794 0.5928 0.5838 Uncertain 6_29913197_T->C 6 29913197 29913197 T C snp 1748.77 0/1 99 124 60 64 0.52 intergenic rs2975054 HCG4B AU 0.4814 0.4356 Uncertain 6_29913386_C->G 6 29913386 29913386 C G snp 2565.77 0/1 99 157 54 103 0.66 intergenic rs41545022 HCG4B AU 0.101837 0.2629 Uncertain 6_29913430_C->T 6 29913430 29913430 C T snp 1122.77 0/1 99 66 22 44 0.67 intergenic rs112863520 HCG4B AU 0.191893 0.2817 Uncertain 6_29942842_C->A 6 29942842 29942842 C A snp 134.77 0/1 99 15 10 5 0.33 intergenic HCG4B AU 0.255192 0.3075 Uncertain 6_29942983_G->A 6 29942983 29942983 G A snp 1954.77 0/1 99 165 77 88 0.53 intergenic HCG4B AU 0.541534 0.495 0.530228 0.5382 0.5353 Uncertain 6_29943067_G->A 6 29943067 29943067 G A snp 1903.77 0/1 99 165 86 79 0.48 intergenic HCG4B AU 0.25599 0.3075 0.247806 0.3413 0.3695 Uncertain 6_29943178_A->G 6 29943178 29943178 A G snp 763.77 0/1 99 55 26 29 0.53 intergenic HCG4B AU 0.25639 0.3095 0.223671 0.2919 0.3796 Uncertain 6_29943281_G->A 6 29943281 29943281 G A snp 104.77 0/1 99 7 3 4 0.57 intergenic HCG4B AU 0.25599 0.3075 Uncertain 6_29976789_T->C 6 29976789 29976789 T C snp 1203.77 0/1 99 140 86 54 0.39 intergenic HCG4B AU 0.245607 0.2956 0.2929 0.3259 Uncertain 6_29976838_A->G 6 29976838 29976838 A G snp 1775.77 0/1 99 180 107 73 0.41 intergenic HCG4B AU 0.757388 0.7917 0.7810 0.8099 Uncertain 6_30003938_A->C 6 30003938 30003938 A C snp 717.77 0/1 99 34 12 22 0.65 intergenic HCG4B AU 0.00778754 0.0387 Uncertain 6_30030114_A->G 6 30030114 30030114 A G snp 6234.77 1/1 99 237 0 237 1.0 splicing ZNRD1 AU NM_014596 exon4 c.809+4A>G 0.932308 0.9841 0.885900 0.9025 0.9905 Pathogenic 6_30036333_G->C 6 30036333 30036333 G C snp 152.77 0/1 97 9 4 5 0.56 intergenic ZNRD1 AU 0.0848642 0.1925 0.045627 0.0737 0.1817 Uncertain 6_30041036_G->A 6 30041036 30041036 G A snp 1689.77 0/1 99 183 116 67 0.37 intergenic ZNRD1 AU 0.0848642 0.1925 0.045735 0.0731 0.1818 Uncertain 6_30073195_A->C 6 30073195 30073195 A C snp 413.77 0/1 99 29 16 13 0.45 ncRNA_intronic rs3132680 TRIM31-AS1 AU 0.772764 0.8343 Uncertain 6_30075843_T->C 6 30075843 30075843 T C snp 2356.77 1/1 99 79 0 79 1.0 ncRNA_intronic rs3132679 TRIM31-AS1 AU 0.837061 0.9196 0.801777 0.8563 0.9207 Uncertain 6_30075864_A->G 6 30075864 30075864 A G snp 2386.77 1/1 99 88 0 88 1.0 ncRNA_intronic rs2023472 TRIM31-AS1 AU 0.73762 0.869 0.629265 0.6782 0.8753 Uncertain 6_30075903_C->T 6 30075903 30075903 C T snp 1527.77 0/1 99 102 43 59 0.58 ncRNA_intronic rs28400887 TRIM31-AS1 AU 0.252995 0.2282 0.247749 0.2541 0.2727 Uncertain 6_30076016_C->T 6 30076016 30076016 C T snp 1400.77 1/1 99 48 0 48 1.0 ncRNA_intronic rs3132121 TRIM31-AS1 AU 0.837061 0.9196 0.8509 0.9104 Uncertain 6_30076018_C->G 6 30076018 30076018 C G snp 1394.77 1/1 99 47 0 47 1.0 ncRNA_intronic rs3132122 TRIM31-AS1 AU 0.83746 0.9196 0.8517 0.9102 Uncertain 6_30076064_A->G 6 30076064 30076064 A G snp 600.77 1/1 45 16 0 16 1.0 ncRNA_intronic rs3132678 TRIM31-AS1 AU 0.83746 0.9196 Uncertain 6_30076069_C->A 6 30076069 30076069 C A snp 558.77 1/1 42 15 0 15 1.0 ncRNA_intronic rs2023471 TRIM31-AS1 AU 0.557907 0.6974 Uncertain 6_30076630_G->T 6 30076630 30076630 G T snp 1670.77 1/1 99 52 0 52 1.0 ncRNA_intronic rs2240068 TRIM31-AS1 AU 0.566494 0.6935 Uncertain 6_30104783_A->G 6 30104783 30104783 A G snp 1582.77 0/1 99 122 58 64 0.52 intergenic TRIM31-AS1 AU 0.284944 0.2599 0.267607 0.2979 0.2828 Uncertain 6_30104808_G->A 6 30104808 30104808 G A snp 1895.77 0/1 99 157 76 81 0.52 intergenic TRIM31-AS1 AU 0.201078 0.255 0.180579 0.2333 0.2733 Uncertain 6_30113955_A->G 6 30113955 30113955 A G snp 100.77 0/1 99 16 10 6 0.38 intergenic TRIM31-AS1 AU 0.203674 0.2222 Uncertain 6_30114845_T->C 6 30114845 30114845 T C snp 690.77 0/1 99 57 27 30 0.53 intergenic TRIM31-AS1 AU 0.148762 0.2173 0.158567 0.1994 0.2527 Uncertain 6_30114955_C->T 6 30114955 30114955 C T snp 1017.77 0/1 99 76 29 47 0.62 intergenic TRIM31-AS1 AU 0.177915 0.2173 0.188682 0.2100 0.2542 0.18 T 0.0 P -1.072 T 0.063 T 0.009 T Uncertain 6_30115063_G->A 6 30115063 30115063 G A snp 132.77 0/1 99 14 9 5 0.36 intergenic TRIM31-AS1 AU 0.166134 0.2153 Uncertain 6_30115484_A->G 6 30115484 30115484 A G snp 1259.77 0/1 99 115 61 54 0.47 intergenic TRIM31-AS1 AU 0.235823 0.2599 0.210826 0.2556 0.2767 Uncertain 6_30115542_G->A 6 30115542 30115542 G A snp 1218.77 0/1 99 110 61 49 0.45 intergenic TRIM31-AS1 AU 0.177516 0.2173 0.188682 0.2099 0.2539 0.93 T 0.0 P -1.095 T 0.001 T 0.001 T Uncertain 6_30121460_C->T 6 30121460 30121460 C T snp 934.77 0/1 99 107 62 45 0.42 intergenic TRIM31-AS1 AU 0.25599 0.3423 0.256814 0.3445 0.4343 Uncertain 6_30121605_T->C 6 30121605 30121605 T C snp 2441.77 1/1 99 88 0 88 1.0 intergenic TRIM31-AS1 AU 0.205471 0.4048 Uncertain 6_30121821_A->G 6 30121821 30121821 A G snp 1088.77 0/1 99 119 75 44 0.37 intergenic TRIM31-AS1 AU 0.029353 0.0645 0.001423 0.0283 0.0759 Uncertain 6_30122154_T->C 6 30122154 30122154 T C snp 4173.77 1/1 99 151 0 151 1.0 intergenic TRIM31-AS1 AU 0.970647 0.997 0.931198 0.9425 0.9977 Uncertain 6_30122575_C->T 6 30122575 30122575 C T snp 1038.77 1/1 75 36 0 36 1.0 intergenic TRIM31-AS1 AU 0.635783 0.8343 Uncertain 6_30131349_T->C 6 30131349 30131349 T C snp 50.74 1/1 6 2 0 2 1.0 intergenic rs9261536 TRIM31-AS1 AU 0.901957 0.9048 Uncertain 6_30131546_A->G 6 30131546 30131546 A G snp 1368.77 0/1 99 113 54 59 0.52 intergenic rs17194460 TRIM31-AS1 AU 0.238618 0.3929 0.152998 0.2135 0.3055 0.35 T 0.0 P -0.962 T 0.0 T 0.001 T Uncertain 6_30135977_G->A 6 30135977 30135977 G A snp 550.77 0/1 99 70 47 23 0.33 intergenic rs9368624 TRIM31-AS1 AU 0.237021 0.3919 Uncertain 6_30138162_C->G 6 30138162 30138162 C G snp 1405.77 0/1 99 104 49 55 0.53 intergenic rs1029239 TRIM31-AS1 AU 0.48103 0.4891 Uncertain 6_30138662_C->T 6 30138662 30138662 C T snp 1968.77 0/1 99 150 68 82 0.55 intergenic rs1029237 TRIM31-AS1 AU 0.149161 0.2103 Uncertain 6_30138853_C->A 6 30138853 30138853 C A snp 1600.77 0/1 99 165 94 71 0.43 intergenic rs41272591 TRIM31-AS1 AU 0.173323 0.3552 Uncertain 6_30139699_G->A 6 30139699 30139699 G A snp 2081.77 0/1 99 185 86 99 0.54 intergenic rs929156 TRIM31-AS1 AU 0.185503 0.2123 0.189058 0.2830 0.3015 1 T 0.000 P -0.918 T 0.0 T 0.0 T Uncertain 6_30140342_T->C 6 30140342 30140342 T C snp 1345.77 1/1 96 48 0 48 1.0 intergenic rs1063280 TRIM31-AS1 AU 0.916933 0.9325 0.8910 0.9693 Uncertain 6_30154199_T->C 6 30154199 30154199 T C snp 1845.77 0/1 99 167 83 84 0.5 exonic TRIM26 AU synonymous SNV NM_003449 exon10 c.A1074G p.L358L 0.381589 0.2837 0.439441 0.4008 0.3171 Uncertain 6_30154350_-->AA 6 30154350 30154350 - AA indel 270.73 0/1 99 37 18 19 0.51 intronic TRIM26 AU NM_001242783 exon1 c.683+15insAA 0.229233 0.1984 0.2421 0.2198 Uncertain 6_30154351_A->G 6 30154351 30154351 A G snp 365.77 0/1 99 38 21 17 0.45 intronic TRIM26 AU NM_001242783 exon1 c.683+16A>G 0.176518 0.376 0.067269 0.4776 0.4929 Uncertain 6_30228379_A->G 6 30228379 30228379 A G snp 1474.77 0/1 99 130 70 60 0.46 intergenic TRIM26 AU 0.397364 0.5308 0.259009 0.3176 0.4535 Uncertain 6_30228399_G->- 6 30228399 30228399 G - indel 2232.73 0/1 99 154 82 72 0.47 intergenic TRIM26 AU 0.397564 0.5308 0.253321 0.3121 0.4500 Uncertain 6_30228416_T->C 6 30228416 30228416 T C snp 1961.77 0/1 99 167 86 81 0.49 intergenic TRIM26 AU 0.397764 0.5308 0.255693 0.3148 0.4548 Uncertain 6_30228652_C->A 6 30228652 30228652 C A snp 44.77 0/1 33 3 1 2 0.67 intergenic TRIM26 AU 0.233027 0.4435 Uncertain 6_30228879_C->T 6 30228879 30228879 C T snp 778.77 0/1 99 70 37 33 0.47 intergenic TRIM26 AU 0.397564 0.5308 Uncertain 6_30228881_T->C 6 30228881 30228881 T C snp 824.77 0/1 99 72 38 34 0.47 intergenic TRIM26 AU 0.397564 0.5308 Uncertain 6_30228938_T->C 6 30228938 30228938 T C snp 1516.77 0/1 99 149 81 68 0.46 intergenic TRIM26 AU 0.397564 0.5308 0.258948 0.3142 0.4557 Uncertain 6_30229013_A->G 6 30229013 30229013 A G snp 1233.77 0/1 99 132 73 59 0.45 intergenic TRIM26 AU 0.397564 0.5308 0.259242 0.3154 0.4551 Uncertain 6_30229034_-->T 6 30229034 30229034 - T indel 1671.73 0/1 99 112 61 51 0.46 intergenic TRIM26 AU 0.397564 0.5308 0.253637 0.3154 0.4548 Uncertain 6_30229280_C->A 6 30229280 30229280 C A snp 1567.77 0/1 99 144 73 71 0.49 intergenic TRIM26 AU 0.396166 0.5308 0.257820 0.3149 0.4533 Uncertain 6_30229281_C->T 6 30229281 30229281 C T snp 1543.77 0/1 99 143 73 70 0.49 intergenic TRIM26 AU 0.397564 0.5308 0.257701 0.3155 0.4531 Uncertain 6_30229306_A->G 6 30229306 30229306 A G snp 1923.77 0/1 99 173 91 82 0.47 intergenic TRIM26 AU 0.488419 0.5794 0.392536 0.4336 0.5087 Uncertain 6_30229457_C->T 6 30229457 30229457 C T snp 1738.77 0/1 99 148 77 71 0.48 intergenic TRIM26 AU 0.397564 0.5308 0.259422 0.3166 0.4539 Uncertain 6_30229463_G->A 6 30229463 30229463 G A snp 1572.77 0/1 99 141 74 67 0.48 intergenic TRIM26 AU 0.368211 0.4861 0.256577 0.2958 0.4265 Uncertain 6_30229504_G->A 6 30229504 30229504 G A snp 1210.77 0/1 99 111 60 51 0.46 intergenic TRIM26 AU 0.372604 0.5069 0.256340 0.2973 0.4414 Uncertain 6_30229583_G->C 6 30229583 30229583 G C snp 387.77 0/1 99 42 24 18 0.43 intergenic TRIM26 AU 0.373802 0.5308 Uncertain 6_30229869_T->C 6 30229869 30229869 T C snp 44.74 1/1 6 2 0 2 1.0 intergenic TRIM26 AU 0.946685 0.9851 Uncertain 6_30229922_A->G 6 30229922 30229922 A G snp 312.77 0/1 99 19 6 13 0.68 intergenic TRIM26 AU 0.397564 0.5308 Uncertain 6_30229928_AGG->- 6 30229928 30229930 AGG - indel 643.73 0/1 99 23 10 13 0.57 intergenic TRIM26 AU 0.397564 0.5308 Uncertain 6_30229990_G->A 6 30229990 30229990 G A snp 969.77 0/1 99 82 36 46 0.56 intergenic TRIM26 AU 0.397564 0.5308 Uncertain 6_30230085_T->C 6 30230085 30230085 T C snp 1179.77 0/1 99 100 50 50 0.5 intergenic TRIM26 AU 0.397564 0.5308 0.253421 0.3143 0.4549 Uncertain 6_30230128_T->C 6 30230128 30230128 T C snp 570.77 0/1 99 72 38 34 0.47 intergenic TRIM26 AU 0.397564 0.5308 0.250346 0.3143 0.4548 Uncertain 6_30231071_G->A 6 30231071 30231071 G A snp 1015.77 0/1 99 119 75 44 0.37 intergenic TRIM26 AU 0.397564 0.5308 0.253498 0.3145 0.4541 Uncertain 6_30231108_G->T 6 30231108 30231108 G T snp 1212.77 0/1 99 131 79 52 0.4 intergenic TRIM26 AU 0.397564 0.5308 0.253421 0.3143 0.4542 Uncertain 6_30297018_-->A 6 30297018 30297018 - A indel 74.5 1/1 3 8 2 6 0.75 intergenic rs200072323 HCG18 AU Uncertain 6_30297529_T->C 6 30297529 30297529 T C snp 909.77 0/1 99 56 22 34 0.61 intergenic rs2057727 HCG18 AU 0.380791 0.506 0.265243 0.3042 0.4410 1.000 P -1.034 T Uncertain 6_30309105_G->A 6 30309105 30309105 G A snp 732.77 0/1 99 80 46 34 0.42 intergenic rs9380173 HCG18 AU 0.201078 0.4087 Uncertain 6_30309508_T->C 6 30309508 30309508 T C snp 3498.77 0/1 99 250 129 121 0.48 intergenic rs2074474 HCG18 AU 0.376797 0.5119 0.258237 0.3047 0.4536 Uncertain 6_30313227_G->A 6 30313227 30313227 G A snp 3632.77 0/1 99 242 98 144 0.6 intergenic rs5030611 HCG18 AU 0.236022 0.4425 0.134187 0.2365 0.3916 Uncertain 6_30313268_G->A 6 30313268 30313268 G A snp 1272.77 0/1 99 162 106 56 0.35 intergenic rs11967 HCG18 AU 0.154553 0.2431 0.179563 0.2579 0.3206 Uncertain 6_30314116_G->A 6 30314116 30314116 G A snp 978.77 0/1 99 68 26 42 0.62 intergenic rs2844749 HCG18 AU 0.153355 0.2431 Uncertain 6_30314566_T->G 6 30314566 30314566 T G snp 2124.77 0/1 99 182 97 85 0.47 intergenic rs1060065 HCG18 AU 0.372604 0.505 0.254976 0.2973 0.4417 Uncertain 6_30314567_C->A 6 30314567 30314567 C A snp 2076.77 0/1 99 182 98 84 0.46 intergenic rs974963 HCG18 AU 0.372604 0.505 0.254502 0.2973 0.4416 0 D 0.000 P -1.082 T 0.003 T 0.006 T Uncertain 6_30314607_A->G 6 30314607 30314607 A G snp 1794.77 0/1 99 145 74 71 0.49 intergenic rs974962 HCG18 AU 0.203275 0.4097 0.113389 0.1855 0.3490 Uncertain 6_30457732_T->C 6 30457732 30457732 T C snp 708.77 0/1 99 71 38 33 0.46 intergenic HCG18 AU 0.72484 0.7083 0.695255 0.7036 0.7297 Uncertain 6_30521071_CT->- 6 30521071 30521072 CT - indel 307.73 0/1 99 14 7 7 0.5 intergenic HCG18 AU 0.174521 0.2827 Uncertain 6_30521137_G->A 6 30521137 30521137 G A snp 326.77 0/1 99 23 12 11 0.48 intergenic HCG18 AU 0.661142 0.621 0.662322 0.6704 0.6649 Uncertain 6_30530245_T->C 6 30530245 30530245 T C snp 2933.77 0/1 99 243 113 130 0.53 intergenic HCG18 AU 0.752596 0.6994 0.746001 0.7215 0.7114 Uncertain 6_30545022_G->T 6 30545022 30545022 G T snp 77.77 0/1 99 7 4 3 0.43 intergenic rs3130043 HCG18 AU 0.619609 0.5982 Uncertain 6_30546066_A->G 6 30546066 30546066 A G snp 610.77 0/1 99 35 13 22 0.63 intergenic rs149195559 HCG18 AU 0.00239617 0.003 Uncertain 6_30551286_A->G 6 30551286 30551286 A G snp 98.77 0/1 99 18 14 4 0.22 upstream rs1264440 MIR877 AU 0.714058 0.6746 Uncertain 6_30552937_A->C 6 30552937 30552937 A C snp 218.77 0/1 99 16 9 7 0.44 downstream rs3130244 MIR877 AU 0.628794 0.5982 Uncertain 6_30553871_C->T 6 30553871 30553871 C T snp 1318.77 0/1 99 137 79 58 0.42 intergenic rs1264437 MIR877 AU 0.752596 0.6706 0.746268 0.7262 0.6944 Uncertain 6_30554180_A->G 6 30554180 30554180 A G snp 1738.77 0/1 99 128 62 66 0.52 intergenic rs17195467 MIR877 AU 0.0265575 0.0218 Uncertain 6_30558477_-->A 6 30558477 30558477 - A indel 604.73 0/1 99 51 32 19 0.37 intergenic rs4148252 MIR877 AU 0.714058 0.6736 0.696467 0.6999 0.6911 Uncertain 6_30573638_A->- 6 30573638 30573638 A - indel 100.73 0/1 99 52 32 20 0.38 intergenic MIR877 AU 0.468051 0.4653 Uncertain 6_30575603_A->G 6 30575603 30575603 A G snp 1275.77 0/1 99 119 61 58 0.49 intergenic MIR877 AU 0.809704 0.8264 0.751777 0.7472 0.8116 Uncertain 6_30628082_A->G 6 30628082 30628082 A G snp 1997.77 1/1 99 64 0 64 1.0 intergenic C6orf136 AU 0.968251 0.9931 Uncertain 6_30652101_AG->- 6 30652101 30652102 AG - indel 649.73 0/1 99 42 27 15 0.36 intergenic C6orf136 AU Uncertain 6_30653246_A->C 6 30653246 30653246 A C snp 2092.77 0/1 99 242 148 94 0.39 intergenic C6orf136 AU 0.00119808 0.005 0.0004 0.0060 0.24 T 0.995 N -1.002 T 0.004 T 0.004 T Uncertain 6_30657015_T->C 6 30657015 30657015 T C snp 1792.77 1/1 99 67 0 67 1.0 intergenic C6orf136 AU 0.967252 0.9931 0.938310 0.9528 0.9956 Uncertain 6_30670292_C->T 6 30670292 30670292 C T snp 703.77 0/1 99 70 37 33 0.47 intergenic rs9405048 C6orf136 AU 0.133786 0.2996 0.105026 0.1709 0.2934 Uncertain 6_30679628_T->A 6 30679628 30679628 T A snp 3101.77 1/1 99 112 0 112 1.0 intergenic rs3094093 C6orf136 AU 0.981629 1 0.951873 0.9584 1 Uncertain 6_30711805_C->G 6 30711805 30711805 C G snp 1984.77 1/1 99 71 0 71 1.0 intergenic C6orf136 AU 0.96845 0.9931 0.935789 0.9426 0.9962 0.45 T 0.000 P -0.974 T 0.0 T 0.0 T Uncertain 6_30781923_T->C 6 30781923 30781923 T C snp 1081.77 1/1 78 35 0 35 1.0 intergenic rs4286818 C6orf136 AU 0.408347 0.6508 Uncertain 6_30782105_T->C 6 30782105 30782105 T C snp 4694.77 1/1 99 150 0 150 1.0 intergenic rs2894046 C6orf136 AU 0.408347 0.6508 0.4140 0.6557 Uncertain 6_30782235_G->A 6 30782235 30782235 G A snp 6083.77 1/1 99 223 2 221 0.99 intergenic rs2394412 C6orf136 AU 0.408347 0.6508 0.4126 0.6524 Uncertain 6_30782303_C->T 6 30782303 30782303 C T snp 5872.77 1/1 99 196 1 195 0.99 intergenic rs2394413 C6orf136 AU 0.408746 0.6508 0.4135 0.6520 Uncertain 6_30782361_G->A 6 30782361 30782361 G A snp 6277.77 1/1 99 228 2 226 0.99 intergenic rs9295924 C6orf136 AU 0.277157 0.4077 0.3029 0.3663 Uncertain 6_30782407_A->G 6 30782407 30782407 A G snp 6027.77 1/1 99 227 1 226 1.0 intergenic rs2894047 C6orf136 AU 0.408347 0.6508 0.4232 0.645 Uncertain 6_30782619_-->TCTTTATT 6 30782619 30782619 - TCTTTATT indel 618.74 1/1 27 11 0 11 1.0 intergenic rs139856443 C6orf136 AU 0.396565 0.6488 Uncertain 6_30857072_G->C 6 30857072 30857072 G C snp 513.77 0/1 99 44 23 21 0.48 intergenic C6orf136 AU 0.415335 0.6121 0.207632 0.3051 0.5849 1.0 P -1.040 T Uncertain 6_30858857_C->T 6 30858857 30858857 C T snp 1163.77 0/1 99 95 47 48 0.51 intergenic C6orf136 AU 0.415535 0.6121 0.208017 0.3051 0.5842 1.000 P -1.021 T Uncertain 6_30859304_-->TG 6 30859304 30859304 - TG indel 6640.73 ./1 99 148 7 141 0.95 intergenic C6orf136 AU 0.2732 0.345 Uncertain 6_30859304_-->TCTGTGTGTGTGTGTG 6 30859304 30859304 - TCTGTGTGTGTGTGTG indel 6640.73 ./1 99 148 7 141 0.95 intergenic C6orf136 AU Uncertain 6_30859306_G->C 6 30859306 30859306 G C snp 1031.77 0/1 99 145 88 57 0.39 intergenic C6orf136 AU 0.058614 0.0019 0.0032 Uncertain 6_30859335_A->T 6 30859335 30859335 A T snp 2082.77 1/1 99 75 3 72 0.96 intergenic C6orf136 AU 0.871006 0.9375 Uncertain 6_30859337_A->T 6 30859337 30859337 A T snp 115.77 0/1 99 70 57 13 0.19 intergenic C6orf136 AU Uncertain 6_30859355_G->A 6 30859355 30859355 G A snp 533.77 0/1 99 52 35 17 0.33 intergenic C6orf136 AU 0.264377 0.3562 Uncertain 6_30861000_C->T 6 30861000 30861000 C T snp 1697.77 0/1 99 165 93 72 0.44 intergenic C6orf136 AU 0.222843 0.248 0.291801 0.3250 0.2876 Uncertain 6_30861225_G->A 6 30861225 30861225 G A snp 245.77 0/1 99 22 12 10 0.45 intergenic C6orf136 AU 0.334665 0.5704 0.150823 0.2864 0.5559 Uncertain 6_30864700_C->T 6 30864700 30864700 C T snp 1384.77 0/1 99 149 86 63 0.42 intergenic C6orf136 AU 0.222843 0.251 Uncertain 6_30864829_T->C 6 30864829 30864829 T C snp 1916.77 0/1 99 154 74 80 0.52 intergenic C6orf136 AU 0.535743 0.6667 0.407120 0.4631 0.6532 1.000 P ID=CM076148;DIS=Schizophrenia, association with;TAG=DP;PUB=17440435 DP Uncertain 6_30865115_G->A 6 30865115 30865115 G A snp 446.77 0/1 99 43 28 15 0.35 intergenic C6orf136 AU 0.407348 0.6081 0.210166 0.3572 0.6100 Uncertain 6_30865204_A->C 6 30865204 30865204 A C snp 1506.77 0/1 99 141 74 67 0.48 intergenic C6orf136 AU 0.282348 0.3641 0.147163 0.2300 0.3381 1.000 P -1.029 T Uncertain 6_30865725_C->T 6 30865725 30865725 C T snp 742.77 0/1 99 39 14 25 0.64 intergenic C6orf136 AU 0.335463 0.5714 Uncertain 6_30867106_C->T 6 30867106 30867106 C T snp 903.77 0/1 99 71 35 36 0.51 intergenic C6orf136 AU 0.407348 0.6081 0.210441 0.2959 0.5768 Uncertain 6_30867666_T->C 6 30867666 30867666 T C snp 329.77 0/1 99 19 8 11 0.58 intergenic C6orf136 AU 0.407348 0.6081 Uncertain 6_30867958_T->C 6 30867958 30867958 T C snp 577.77 0/1 99 74 44 30 0.41 intergenic C6orf136 AU 0.270367 0.3641 Uncertain 6_30876152_C->T 6 30876152 30876152 C T snp 100.77 0/1 99 14 8 6 0.43 intergenic rs1052693 C6orf136 AU 0.407748 0.6091 Uncertain 6_30876238_G->A 6 30876238 30876238 G A snp 462.77 0/1 99 39 18 21 0.54 intergenic rs2074509 C6orf136 AU 0.407748 0.6091 Uncertain 6_30876438_G->A 6 30876438 30876438 G A snp 111.77 0/1 99 12 7 5 0.42 intergenic rs2074508 C6orf136 AU 0.407348 0.6091 Uncertain 6_30876996_G->C 6 30876996 30876996 G C snp 344.77 0/1 99 32 19 13 0.41 intergenic C6orf136 AU 0.407348 0.6091 0.209417 0.3007 0.5780 Uncertain 6_30877054_G->A 6 30877054 30877054 G A snp 362.77 0/1 99 33 19 14 0.42 intergenic C6orf136 AU 0.335863 0.5724 Uncertain 6_30877202_T->C 6 30877202 30877202 T C snp 878.77 0/1 99 92 51 41 0.45 intergenic C6orf136 AU 0.407748 0.6091 0.207444 0.3007 0.5772 Uncertain 6_30877760_A->C 6 30877760 30877760 A C snp 1237.77 0/1 99 127 70 57 0.45 intergenic C6orf136 AU 0.407748 0.6091 0.207632 0.3002 0.5782 Uncertain 6_30878579_A->T 6 30878579 30878579 A T snp 1521.77 0/1 99 129 67 62 0.48 intergenic C6orf136 AU 0.407748 0.6091 0.207751 0.3081 0.5826 Uncertain 6_30878769_C->T 6 30878769 30878769 C T snp 624.77 0/1 99 45 22 23 0.51 intergenic C6orf136 AU 0.407348 0.6091 0.203936 0.3268 0.6028 Uncertain 6_30878919_T->C 6 30878919 30878919 T C snp 336.77 0/1 99 29 15 14 0.48 intergenic C6orf136 AU 0.407348 0.6091 0.210134 0.2979 0.5788 Uncertain 6_30880757_G->A 6 30880757 30880757 G A snp 1236.77 0/1 99 84 35 49 0.58 intergenic C6orf136 AU 0.222045 0.247 Uncertain 6_30881058_C->T 6 30881058 30881058 C T snp 972.77 0/1 99 92 49 43 0.47 intergenic C6orf136 AU 0.00459265 0.005 0.000237 0.0041 0.0090 Uncertain 6_30882203_T->C 6 30882203 30882203 T C snp 2923.77 1/1 99 90 0 90 1.0 exonic VARS2 AR synonymous SNV NM_001167734 exon1 c.T15C p.A5A 0.629792 0.8562 0.6417 0.8824 Uncertain 6_30882277_C->T 6 30882277 30882277 C T snp 2229.77 0/1 99 244 139 105 0.43 intronic VARS2 AR NM_001167734 exon1 c.58+31C>T 0.222045 0.247 0.3874 0.2941 Uncertain 6_30882513_A->G 6 30882513 30882513 A G snp 1490.77 0/1 99 116 56 60 0.52 intronic VARS2 AR NM_001167734 exon2 c.393-68A>G 0.222045 0.247 Uncertain 6_30882634_C->T 6 30882634 30882634 C T snp 2848.77 0/1 99 223 104 119 0.53 exonic VARS2 AR synonymous SNV NM_001167734 exon2 c.C111T p.A37A 0.222045 0.247 0.293455 0.3215 0.2862 Uncertain 6_30882781_G->T 6 30882781 30882781 G T snp 2009.77 0/1 99 182 95 87 0.48 exonic VARS2 AR synonymous SNV NM_001167734 exon2 c.G258T p.A86A 0.222045 0.247 0.294383 0.3236 0.2877 Uncertain 6_30882856_A->G 6 30882856 30882856 A G snp 2210.77 0/1 99 203 103 100 0.49 intronic VARS2 AR NM_020442 exon2 c.201+42A>G 0.222045 0.247 0.291390 0.3233 0.2862 Uncertain 6_30883879_AAGCAACC->- 6 30883879 30883886 AAGCAACC - indel 16767.7 1/1 99 191 0 191 1.0 intronic VARS2 AR NM_001167733 exon6 c.370-49_370-42delAAGCAACC 0.779952 0.9147 0.717173 0.8027 0.9382 Uncertain 6_30883920_C->T 6 30883920 30883920 C T snp 1756.77 0/1 99 159 87 72 0.45 intronic VARS2 AR NM_001167733 exon6 c.370-8C>T 0.222045 0.247 0.293019 0.3203 0.2855 Uncertain 6_30884436_A->G 6 30884436 30884436 A G snp 77.77 0/1 72 6 3 3 0.5 intronic VARS2 AR NM_001167733 exon7 c.1096-218A>G 0.222244 0.247 Uncertain 6_30884806_A->C 6 30884806 30884806 A C snp 801.77 0/1 99 94 61 33 0.35 intronic VARS2 AR NM_001167733 exon7 c.1178+70A>C 0.222045 0.247 Uncertain 6_30885639_A->G 6 30885639 30885639 A G snp 1559.77 0/1 99 130 61 69 0.53 intronic VARS2 AR NM_001167733 exon9 c.2025+56A>G 0.222444 0.247 Uncertain 6_30885686_T->A 6 30885686 30885686 T A snp 914.77 0/1 99 79 39 40 0.51 intronic VARS2 AR NM_001167733 exon9 c.2025+103T>A 0.222045 0.247 Uncertain 6_30887311_C->T 6 30887311 30887311 C T snp 75.77 0/1 99 6 3 3 0.5 intronic VARS2 AR NM_001167733 exon11 c.3976-223C>T 0.222045 0.247 Uncertain 6_30887344_T->C 6 30887344 30887344 T C snp 588.77 0/1 99 29 12 17 0.59 intronic VARS2 AR NM_001167733 exon11 c.3976-190T>C 0.222644 0.247 Uncertain 6_30887972_C->T 6 30887972 30887972 C T snp 1218.77 0/1 99 116 63 53 0.46 exonic VARS2 AR synonymous SNV NM_001167734 exon13 c.C1362T p.S454S 0.39397 0.5942 0.186848 0.2855 0.5558 Uncertain 6_30887988_C->T 6 30887988 30887988 C T snp 1871.77 0/1 99 140 61 79 0.56 exonic VARS2 AR synonymous SNV NM_001167734 exon13 c.C1378T p.L460L 0.222045 0.247 0.294431 0.3247 0.2864 Uncertain 6_30888161_T->C 6 30888161 30888161 T C snp 3087.77 1/1 99 108 0 108 1.0 exonic VARS2 AR nonsynonymous SNV NM_001167734 exon14 c.T1435C p.W479R 0.616214 0.8413 0.483162 0.6011 0.8410 0.84 T 0.000 P -0.954 T 0.0 T 0.0 T Pathogenic 6_30888169_G->A 6 30888169 30888169 G A snp 1040.77 0/1 99 99 58 41 0.41 exonic VARS2 AR synonymous SNV NM_001167734 exon14 c.G1443A p.L481L 0.222244 0.247 0.293019 0.3197 0.2844 Uncertain 6_30889120_A->G 6 30889120 30889120 A G snp 884.77 0/1 99 63 28 35 0.56 intronic VARS2 AR NM_001167733 exon16 c.5524+38A>G 0.222045 0.247 0.291859 0.3223 0.2864 Uncertain 6_30889260_G->A 6 30889260 30889260 G A snp 2572.77 1/1 99 89 0 89 1.0 intronic VARS2 AR NM_001167733 exon17 c.5807-105G>A 0.616014 0.8413 Uncertain 6_30889389_T->C 6 30889389 30889389 T C snp 822.77 0/1 99 94 58 36 0.38 exonic VARS2 AR synonymous SNV NM_001167734 exon18 c.T1746C p.V582V 0.337859 0.5724 0.148732 0.2966 0.5589 Uncertain 6_30890055_T->C 6 30890055 30890055 T C snp 3137.77 0/1 99 250 120 130 0.52 intronic VARS2 AR NM_001167733 exon19 c.6460+37T>C 0.222045 0.247 0.294334 0.3225 0.2869 Uncertain 6_30890206_T->C 6 30890206 30890206 T C snp 3089.77 0/1 99 245 112 133 0.54 intronic VARS2 AR NM_001167733 exon20 c.6668-20T>C 0.221645 0.247 0.293880 0.3246 0.2871 Uncertain 6_30890431_A->G 6 30890431 30890431 A G snp 2011.77 1/1 99 65 0 65 1.0 intronic VARS2 AR NM_001167733 exon21 c.6924-51A>G 0.70627 0.8671 0.661318 Uncertain 6_30890483_G->T 6 30890483 30890483 G T snp 993.77 0/1 99 94 51 43 0.46 exonic VARS2 AR nonsynonymous SNV NM_001167734 exon22 c.G2128T p.V710L 0.222045 0.247 0.293999 0.3240 0.2869 0.14 T 1.000 P -0.906 T 0.594 P 0.283 P Pathogenic 6_30890569_G->T 6 30890569 30890569 G T snp 1477.77 0/1 99 142 79 63 0.44 intronic VARS2 AR NM_001167733 exon21 c.6993+18G>T 0.222045 0.247 0.294236 0.3249 0.2871 Uncertain 6_30890871_T->C 6 30890871 30890871 T C snp 6783.77 1/1 99 238 1 237 1.0 intronic VARS2 AR NM_001167733 exon23 c.7322-9T>C 0.615815 0.8413 0.480678 0.6056 0.8421 Uncertain 6_30892322_C->T 6 30892322 30892322 C T snp 606.77 0/1 99 47 21 26 0.55 exonic VARS2 AR synonymous SNV NM_001167734 exon26 c.C2748T p.P916P 0.222045 0.247 0.295514 0.3446 0.2982 Uncertain 6_30892377_G->C 6 30892377 30892377 G C snp 555.77 0/1 99 47 21 26 0.55 intronic VARS2 AR NM_001167733 exon25 c.8779+40G>C 0.222843 0.248 0.287024 0.3561 0.3109 Uncertain 6_30893000_C->- 6 30893000 30893000 C - indel 2533.73 0/1 99 151 83 68 0.45 intronic VARS2 AR NM_001167733 exon26 c.9492-50delC 0.39377 0.5942 0.190471 Uncertain 6_30893127_G->A 6 30893127 30893127 G A snp 1416.77 0/1 99 95 38 57 0.6 exonic VARS2 AR nonsynonymous SNV NM_001167734 exon27 c.G2840A p.R947Q 0.39377 0.5942 0.187307 0.3022 0.5677 0.01 T 1.000 P -0.655 T 1.0 D 0.968 D Pathogenic 6_30893226_C->G 6 30893226 30893226 C G snp 511.77 0/1 99 50 32 18 0.36 intronic VARS2 AR NM_001167733 exon26 c.9604+64C>G 0.222045 0.247 Uncertain 6_30893251_G->A 6 30893251 30893251 G A snp 530.77 0/1 99 47 29 18 0.38 intronic VARS2 AR NM_001167733 exon27 c.9762-69G>A 0.222244 0.248 Uncertain 6_30893428_G->A 6 30893428 30893428 G A snp 1123.77 0/1 99 92 43 49 0.53 exonic VARS2 AR nonsynonymous SNV NM_001167734 exon28 c.G2983A p.A995T 0.223043 0.247 0.289355 0.3295 0.2902 0.51 T 0.0 P -1.016 T 0.098 T 0.011 T Pathogenic 6_30893728_C->T 6 30893728 30893728 C T snp 3017.77 1/1 99 107 1 106 0.99 exonic VARS2 AR synonymous SNV NM_001167734 exon29 c.C3123T p.D1041D 0.707867 0.8671 0.653035 0.7530 0.8755 Uncertain 6_30893831_G->A 6 30893831 30893831 G A snp 2495.77 0/1 99 206 102 104 0.5 intronic VARS2 AR NM_001167733 exon28 c.10227+46G>A 0.222045 0.247 0.294146 0.3214 0.2872 Uncertain 6_30899163_G->A 6 30899163 30899163 G A snp 258.8 1/1 21 7 0 7 1.0 UTR3 SFTA2 AU 0.648163 0.8452 Uncertain 6_30899233_C->T 6 30899233 30899233 C T snp 319.77 0/1 99 25 9 16 0.64 UTR3 SFTA2 AU 0.335663 0.5714 0.149158 0.2567 0.5346 Uncertain 6_30899377_C->G 6 30899377 30899377 C G snp 3915.77 1/1 99 139 0 139 1.0 intronic SFTA2 AU NM_205854 exon1 c.87+26C>G 0.648363 0.8452 0.611045 0.7286 0.8570 Uncertain 6_30899571_C->T 6 30899571 30899571 C T snp 1408.77 0/1 99 107 55 52 0.49 exonic SFTA2 AU synonymous SNV NM_205854 exon2 c.G63A p.G21G 0.282348 0.3641 0.143043 0.2326 0.3385 Uncertain 6_30899746_G->A 6 30899746 30899746 G A snp 227.77 0/1 99 21 11 10 0.48 intronic SFTA2 AU NM_205854 exon3 c.548-66G>A 0.335463 0.5714 Uncertain 6_30900094_T->C 6 30900094 30900094 T C snp 427.77 1/1 33 12 0 12 1.0 upstream SFTA2 AU 0.779553 0.9147 Uncertain 6_30917212_T->C 6 30917212 30917212 T C snp 468.77 1/1 39 13 0 13 1.0 intergenic SFTA2 AU 1 1 0.9652 1 0.69 T 0.000 P -0.951 T 0.003 T 0.0 T Uncertain 6_30918400_A->G 6 30918400 30918400 A G snp 1678.77 0/1 99 126 60 66 0.52 intergenic SFTA2 AU 0.221845 0.2421 0.291721 0.3078 0.2134 0.24 T 0.000 P -1.055 T 0.001 T 0.003 T Uncertain 6_30919701_T->C 6 30919701 30919701 T C snp 1690.77 0/1 99 144 75 69 0.48 intergenic SFTA2 AU 0.235024 0.2688 0.295863 0.3313 0.3128 Uncertain 6_30920890_G->A 6 30920890 30920890 G A snp 1919.77 0/1 99 131 56 75 0.57 intergenic SFTA2 AU 0.18151 0.1776 0.272490 0.2982 0.1841 0 D 0.0 P -1.018 T 0.35 T 0.141 T Uncertain 6_30920957_G->A 6 30920957 30920957 G A snp 198.77 0/1 99 24 16 8 0.33 intergenic SFTA2 AU 0.282348 0.37 Uncertain 6_30955681_G->A 6 30955681 30955681 G A snp 549.77 0/1 99 45 20 25 0.56 intergenic SFTA2 AU 0.854832 0.8284 Uncertain 6_30993377_T->A 6 30993377 30993377 T A snp 7832.77 1/1 99 250 1 249 1.0 intergenic SFTA2 AU 0.795927 0.6349 0.8157 0.7078 Uncertain 6_30993440_G->A 6 30993440 30993440 G A snp 7835.77 1/1 99 250 1 249 1.0 intergenic SFTA2 AU 0.0784744 0.0962 0.0897 0.0974 Uncertain 6_30993499_C->T 6 30993499 30993499 C T snp 3113.77 0/1 99 249 135 114 0.46 intergenic SFTA2 AU 0.488019 0.5575 0.4664 0.5065 Uncertain 6_30993590_A->G 6 30993590 30993590 A G snp 7681.77 1/1 99 249 0 249 1.0 intergenic SFTA2 AU 0.195487 0.244 0.2975 0.24 Uncertain 6_30994253_G->A 6 30994253 30994253 G A snp 8113.77 1/1 99 250 2 248 0.99 intergenic SFTA2 AU 0.163339 0.1548 0.2650 0.0769 Uncertain 6_30994412_G->A 6 30994412 30994412 G A snp 8097.77 1/1 99 250 0 250 1.0 intergenic SFTA2 AU 0.133986 0.2113 0.1903 0.1970 Uncertain 6_30994635_C->T 6 30994635 30994635 C T snp 7767.77 1/1 99 250 1 249 1.0 intergenic SFTA2 AU 0.0808706 0.1438 0.1499 0.0833 Uncertain 6_30994730_G->A 6 30994730 30994730 G A snp 8472.77 1/1 99 250 0 250 1.0 intergenic SFTA2 AU 0.0810703 0.1438 0.1503 0.0833 Uncertain 6_30995786_A->G 6 30995786 30995786 A G snp 8016.77 1/1 99 250 3 247 0.99 intergenic SFTA2 AU 0.126398 0.2054 0.1638 0.1970 Uncertain 6_30996314_A->G 6 30996314 30996314 A G snp 8179.77 1/1 99 250 1 249 1.0 intergenic SFTA2 AU 0.076877 0.1438 0.1291 0.0956 Uncertain 6_30997692_G->C 6 30997692 30997692 G C snp 3830.77 0/1 99 250 119 131 0.52 intergenic SFTA2 AU 0.808506 0.6518 0.8689 0.6714 Uncertain 6_30997816_G->T 6 30997816 30997816 G T snp 7604.77 1/1 99 250 0 250 1.0 intergenic SFTA2 AU 0.282947 0.3552 0.3278 0.3896 Uncertain 6_30999902_G->C 6 30999902 30999902 G C snp 478.77 1/1 36 13 0 13 1.0 intergenic SFTA2 AU 0.452476 0.5268 Uncertain 6_30999997_T->C 6 30999997 30999997 T C snp 3360.77 1/1 99 115 0 115 1.0 intergenic SFTA2 AU 0.453075 0.5268 0.4510 0.5797 Uncertain 6_31002452_A->G 6 31002452 31002452 A G snp 3237.77 1/1 99 124 0 124 1.0 intergenic SFTA2 AU 0.56849 0.5456 0.5939 0.5833 Uncertain 6_31002527_A->G 6 31002527 31002527 A G snp 4360.77 1/1 99 164 1 163 0.99 intergenic SFTA2 AU 0.498203 0.4018 0.4474 0.3507 Uncertain 6_31002616_C->T 6 31002616 31002616 C T snp 3393.77 1/1 99 121 0 121 1.0 intergenic SFTA2 AU 0.21226 0.3046 0.2422 0.2537 Uncertain 6_31079236_G->A 6 31079236 31079236 G A snp 2458.77 1/1 99 83 0 83 1.0 intergenic SFTA2 AU 0.531749 0.4871 0.557435 0.5370 0.4836 Uncertain 6_31079242_A->G 6 31079242 31079242 A G snp 1125.77 0/1 99 85 39 46 0.54 intergenic SFTA2 AU 0.104633 0.2361 0.049971 0.1006 0.2147 Uncertain 6_31079264_C->T 6 31079264 31079264 C T snp 1086.77 0/1 99 79 36 43 0.54 intergenic SFTA2 AU 0.104034 0.2361 0.048700 0.1007 0.2157 0.07 T 0.000 P -1.118 T 1.0 D 0.971 D Uncertain 6_31079371_C->G 6 31079371 31079371 C G snp 1986.77 0/1 99 140 57 83 0.59 intergenic SFTA2 AU 0.104034 0.2361 0.049881 0.1000 0.2136 Uncertain 6_31079643_T->C 6 31079643 31079643 T C snp 3145.77 1/1 99 116 0 116 1.0 intergenic SFTA2 AU 0.531949 0.4871 0.562547 0.5371 0.4852 1 T 0.0 P -0.928 T 0.0 T 0.0 T ID=CM098029;DIS=Follicular lymphoma, association with;TAG=DP;PUB=19620980 DP Uncertain 6_31079703_C->G 6 31079703 31079703 C G snp 3543.77 1/1 99 126 0 126 1.0 intergenic SFTA2 AU 0.184904 0.3899 0.070446 0.1494 0.3849 1 T 0.0 P -0.920 T 0.0 T 0.0 T Uncertain 6_31079889_C->G 6 31079889 31079889 C G snp 6307.77 1/1 99 229 0 229 1.0 intergenic SFTA2 AU 0.529752 0.4861 0.534138 0.5338 0.4828 1 T 0.0 P -0.935 T 0.0 T 0.0 T Uncertain 6_31079894_A->G 6 31079894 31079894 A G snp 6473.77 1/1 99 238 1 237 1.0 intergenic SFTA2 AU 0.213858 0.3899 0.147624 0.1955 0.3809 0.81 T 0.0 P -0.956 T 0.0 T 0.0 T Uncertain 6_31080099_G->C 6 31080099 31080099 G C snp 3069.77 0/1 99 249 123 126 0.51 intergenic SFTA2 AU 0.136382 0.2371 0.123185 0.1523 0.2156 Uncertain 6_31080367_C->G 6 31080367 31080367 C G snp 1662.77 0/1 99 121 58 63 0.52 intergenic SFTA2 AU 0.102236 0.2361 0.046037 0.1007 0.2016 Uncertain 6_31080432_A->G 6 31080432 31080432 A G snp 654.77 0/1 99 55 27 28 0.51 intergenic SFTA2 AU 0.214457 0.3879 Uncertain 6_31080471_T->C 6 31080471 31080471 T C snp 389.77 0/1 99 23 10 13 0.57 intergenic SFTA2 AU 0.548522 0.4871 Uncertain 6_31082482_T->C 6 31082482 31082482 T C snp 240.77 ./1 99 8 0 8 1.0 upstream PSORS1C1 AU 0.668131 0.7113 Uncertain 6_31082482_T->G 6 31082482 31082482 T G snp 240.77 ./1 99 8 0 8 1.0 upstream PSORS1C1 AU 0.165535 0.1607 Uncertain 6_31082535_G->A 6 31082535 31082535 G A snp 365.77 0/1 99 24 11 13 0.54 upstream PSORS1C1 AU 0.043131 0.0595 Uncertain 6_31082716_A->T 6 31082716 31082716 A T snp 108.77 0/1 99 21 9 12 0.57 intronic PSORS1C1 AU 0.188498 0.2014 0.3783 0.3083 Uncertain 6_31082734_G->A 6 31082734 31082734 G A snp 273.77 0/1 99 23 10 13 0.57 intronic PSORS1C1 AU 0.646166 0.7113 Uncertain 6_31082843_T->C 6 31082843 31082843 T C snp 96.28 1/1 9 3 0 3 1.0 intronic PSORS1C1 AU 0.188698 0.2014 Uncertain 6_31083656_G->A 6 31083656 31083656 G A snp 122.77 0/1 66 6 2 4 0.67 intronic PSORS1C1 AU 0.646965 0.7113 Uncertain 6_31083664_G->A 6 31083664 31083664 G A snp 198.77 0/1 60 8 2 6 0.75 intronic PSORS1C1 AU 0.646965 0.7113 Uncertain 6_31083798_CTT->- 6 31083798 31083800 CTT - indel 1731.73 0/1 99 67 31 36 0.54 intronic PSORS1C1 AU 0.646965 0.7113 0.545410 0.5768 0.7078 Uncertain 6_31083813_T->C 6 31083813 31083813 T C snp 2140.77 1/1 99 74 0 74 1.0 intronic PSORS1C1 AU 0.833666 0.872 0.799351 0.7639 0.8867 1 T 0.0 P -0.954 T Uncertain 6_31084048_A->G 6 31084048 31084048 A G snp 2445.77 0/1 99 231 122 109 0.47 intronic PSORS1C1 AU 0.1877 0.1637 0.225050 0.1878 0.1808 Uncertain 6_31084075_G->C 6 31084075 31084075 G C snp 2796.77 0/1 99 214 99 115 0.54 intronic PSORS1C1 AU 0.631989 0.7034 0.560357 0.5624 0.7039 Uncertain 6_31084163_A->G 6 31084163 31084163 A G snp 1785.77 0/1 99 152 75 77 0.51 intronic PSORS1C1 AU 0.646965 0.7113 0.560434 0.5897 0.7030 0.98 T 0.0 P -0.940 T Uncertain 6_31084166_C->A 6 31084166 31084166 C A snp 1852.77 0/1 99 154 78 76 0.49 intronic PSORS1C1 AU 0.0425319 0.0625 0.024681 0.0157 0.0707 0.03 T 1.000 N -0.939 T 0.815 T 0.469 P Uncertain 6_31084170_A->C 6 31084170 31084170 A C snp 1807.77 0/1 99 150 73 77 0.51 intronic PSORS1C1 AU 0.195887 0.2054 0.159234 0.2398 0.2452 0.23 T 0.0 P -0.940 T 0.928 T 0.629 D Uncertain 6_31084288_T->C 6 31084288 31084288 T C snp 1322.77 0/1 99 134 77 57 0.43 intronic PSORS1C1 AU 0.646965 0.7113 0.561240 0.5994 0.7171 Uncertain 6_31084639_C->T 6 31084639 31084639 C T snp 1583.77 0/1 99 103 40 63 0.61 intronic PSORS1C1 AU 0.195887 0.2054 0.158255 0.2111 0.2097 Uncertain 6_31084684_G->A 6 31084684 31084684 G A snp 1359.77 0/1 99 124 67 57 0.46 intronic PSORS1C1 AU 0.646965 0.7113 0.560664 0.5772 0.7080 Uncertain 6_31084792_C->T 6 31084792 31084792 C T snp 2178.77 0/1 99 228 136 92 0.4 intronic PSORS1C1 AU 0.646965 0.7113 0.561356 0.5765 0.7072 Uncertain 6_31084943_CTT->- 6 31084943 31084945 CTT - indel 4733.73 0/1 99 215 116 99 0.46 intronic PSORS1C1 AU 0.1875 0.1637 0.223501 0.1871 0.1814 ID=COSM1077524;OCCURENCE=2(large_intestine),1(breast),1(endometrium),2(upper_aerodigestive_tract) Uncertain 6_31084964_T->C 6 31084964 31084964 T C snp 6738.77 1/1 99 236 0 236 1.0 intronic PSORS1C1 AU 0.834465 0.875 0.785097 0.7639 0.8886 1 T 0.0 P -0.963 T 0.0 T 0.0 T Uncertain 6_31085200_A->G 6 31085200 31085200 A G snp 4129.77 1/1 99 140 0 140 1.0 intronic PSORS1C1 AU 0.834465 0.875 0.796494 0.7810 0.8702 Uncertain 6_31085269_A->G 6 31085269 31085269 A G snp 2711.77 1/1 99 89 0 89 1.0 intronic PSORS1C1 AU 0.834465 0.875 0.802428 0.8099 0.8825 Uncertain 6_31085382_C->A 6 31085382 31085382 C A snp 131.77 0/1 99 16 11 5 0.31 intronic PSORS1C1 AU 0.646765 0.7113 Uncertain 6_31088037_T->C 6 31088037 31088037 T C snp 93.77 0/1 99 10 6 4 0.4 intronic PSORS1C1 AU 0.792133 0.8125 Uncertain 6_31088232_A->G 6 31088232 31088232 A G snp 782.77 0/1 99 94 57 37 0.39 intronic PSORS1C1 AU 0.792133 0.8125 0.764459 0.7860 0.8218 Uncertain 6_31088241_C->T 6 31088241 31088241 C T snp 781.77 0/1 99 93 55 38 0.41 intronic PSORS1C1 AU 0.792133 0.8125 0.766438 0.7887 0.8139 Uncertain 6_31088325_A->G 6 31088325 31088325 A G snp 553.77 0/1 99 57 32 25 0.44 intronic PSORS1C1 AU 0.792133 0.8125 Uncertain 6_31097453_T->G 6 31097453 31097453 T G snp 3325.77 1/1 99 125 0 125 1.0 intronic PSORS1C1 AU NM_014068 exon3 c.13+31T>G 0.821086 0.8849 0.771209 0.7477 0.8946 Uncertain 6_31097484_T->A 6 31097484 31097484 T A snp 1271.77 0/1 99 118 64 54 0.46 intronic PSORS1C1 AU NM_014068 exon3 c.13+62T>A 0.120407 0.125 Uncertain 6_31097502_G->A 6 31097502 31097502 G A snp 1146.77 0/1 99 107 57 50 0.47 intronic PSORS1C1 AU NM_014068 exon3 c.13+80G>A 0.0195687 0.0625 Uncertain 6_31105633_C->T 6 31105633 31105633 C T snp 141.03 1/1 12 4 0 4 1.0 intronic PSORS1C1 AU NM_014068 exon4 c.8797-573C>T 0.836661 0.7679 Uncertain 6_31105891_A->G 6 31105891 31105891 A G snp 1476.77 1/1 99 54 0 54 1.0 intronic PSORS1C1 AU NM_014068 exon4 c.8797-315A>G 0.943291 0.9712 0.916386 0.9050 0.9405 1 T 0.693 P -0.915 T 0.0 T 0.0 T Uncertain 6_31105988_C->T 6 31105988 31105988 C T snp 858.77 0/1 99 64 26 38 0.59 intronic PSORS1C1 AU NM_014068 exon4 c.8797-218C>T 0.0303514 0.0873 0.000359 0.0091 0.0764 0 D 0.721 D -0.968 T 1.0 D 0.999 D Uncertain 6_31106236_G->A 6 31106236 31106236 G A snp 1981.77 0/1 99 186 101 85 0.46 exonic PSORS1C1 AU nonsynonymous SNV NM_014068 exon4 c.G43A p.G15S 0.028155 0.0585 0.003791 0.0171 0.0502 0.59 T 1 N -0.906 T 0.002 T 0.0 T Pathogenic 6_31106268_A->G 6 31106268 31106268 A G snp 2131.77 0/1 99 182 94 88 0.48 intronic PSORS1C1 AU NM_014068 exon4 c.8827+32A>G 0.342652 0.1835 0.382701 0.3306 0.1935 ID=CR1111483;DIS=Systemic sclerosis, association with;TAG=DP;PUB=21750679 DP Uncertain 6_31106409_A->G 6 31106409 31106409 A G snp 1188.77 0/1 99 121 70 51 0.42 intronic PSORS1C1 AU NM_014068 exon5 c.9023-23A>G 0.406949 0.496 0.390614 0.4202 0.4746 Uncertain 6_31106516_C->T 6 31106516 31106516 C T snp 2441.77 0/1 99 221 120 101 0.46 exonic PSORS1C1 AU nonsynonymous SNV NM_014068 exon5 c.C127T p.P43S 0.0948482 0.1736 0.061137 0.0478 0.1699 0 D 0.000 P -0.933 T 0.006 T 0.002 T Pathogenic 6_31106606_A->T 6 31106606 31106606 A T snp 2811.77 0/1 99 222 109 113 0.51 intronic PSORS1C1 AU NM_014068 exon5 c.9147+50A>T 0.128994 0.1399 0.103318 0.1360 0.1252 Uncertain 6_31106643_G->A 6 31106643 31106643 G A snp 6547.77 1/1 99 223 0 223 1.0 intronic PSORS1C1 AU NM_014068 exon5 c.9147+87G>A 0.605032 0.4494 Uncertain 6_31106893_A->G 6 31106893 31106893 A G snp 356.77 0/1 99 40 24 16 0.4 intronic PSORS1C1 AU NM_014068 exon5 c.9147+337A>G 0.477636 0.3502 Uncertain 6_31107904_C->G 6 31107904 31107904 C G snp 90.28 1/1 9 3 0 3 1.0 downstream PSORS1C1 AU 0.862021 0.8175 Uncertain 6_31110969_C->T 6 31110969 31110969 C T snp 2637.77 0/1 99 250 134 116 0.46 intergenic rs2073718 PSORS1C1 AU 0.0974441 0.1825 Uncertain 6_31111125_G->A 6 31111125 31111125 G A snp 1109.77 0/1 99 121 69 52 0.43 intergenic rs73397100 PSORS1C1 AU 0.0457268 0.1042 0.010190 0.0166 0.0938 0 D 1.000 D -1.160 T 1.0 D 0.966 D Uncertain 6_31111148_T->A 6 31111148 31111148 T A snp 906.77 0/1 99 94 55 39 0.41 intergenic rs116969494 PSORS1C1 AU 0.0359425 0.1042 0.000711 0.0123 0.0936 0.08 T 0.972 D -1.125 T 1.0 D 1.0 D Uncertain 6_31111174_C->A 6 31111174 31111174 C A snp 1013.77 0/1 99 64 23 41 0.64 intergenic rs130074 PSORS1C1 AU 0.0974441 0.1825 0.061077 0.0480 0.1809 0.01 T 0.767 P -1.121 T 1.0 D 0.999 D Uncertain 6_31111180_T->C 6 31111180 31111180 T C snp 741.77 0/1 99 51 21 30 0.59 intergenic rs130073 PSORS1C1 AU 0.720647 0.6964 0.719943 0.7093 0.7042 Uncertain 6_31112354_C->T 6 31112354 31112354 C T snp 453.77 0/1 99 36 17 19 0.53 intergenic rs11967883 PSORS1C1 AU 0.0974441 0.1825 Uncertain 6_31112899_C->T 6 31112899 31112899 C T snp 2826.77 0/1 99 239 114 125 0.52 intergenic rs3094226 PSORS1C1 AU 0.756789 0.7083 0.755441 0.7615 0.7143 Uncertain 6_31112925_C->T 6 31112925 31112925 C T snp 2807.77 0/1 99 243 117 126 0.52 intergenic rs2073719 PSORS1C1 AU 0.756789 0.7083 0.756398 0.7611 0.7137 Uncertain 6_31113030_A->G 6 31113030 31113030 A G snp 2629.77 1/1 99 85 0 85 1.0 intergenic rs3132539 PSORS1C1 AU 0.863618 0.8175 0.837678 0.8205 0.8147 Uncertain 6_31113106_A->G 6 31113106 31113106 A G snp 113.77 0/1 99 9 5 4 0.44 intergenic rs3130575 PSORS1C1 AU 0.756789 0.7083 0.756872 0.7604 0.7138 Uncertain 6_31113149_T->A 6 31113149 31113149 T A snp 236.77 0/1 99 15 5 10 0.67 intergenic rs112320574 PSORS1C1 AU 0.0898562 0.0645 0.072273 Uncertain 6_31113275_A->G 6 31113275 31113275 A G snp 285.77 0/1 99 50 35 15 0.3 intergenic rs886401 PSORS1C1 AU 0.516973 0.3512 0.033984 0.6048 0.4123 Uncertain 6_31113276_G->A 6 31113276 31113276 G A snp 301.77 0/1 99 50 35 15 0.3 intergenic rs886400 PSORS1C1 AU 0.575879 0.3968 0.012763 0.6048 0.4120 Uncertain 6_31116246_G->A 6 31116246 31116246 G A snp 1391.77 0/1 99 102 52 50 0.49 intergenic rs130068 PSORS1C1 AU 0.409944 0.2966 0.440758 0.4391 0.3098 0.15 T 0.0 P -0.928 T 0.007 T 0.005 T Uncertain 6_31116526_A->G 6 31116526 31116526 A G snp 1085.77 0/1 99 71 36 35 0.49 intergenic rs3132535 PSORS1C1 AU 0.695887 0.6637 0.712930 0.6916 0.6909 Uncertain 6_31117730_TG->- 6 31117730 31117731 TG - indel 438.73 0/1 99 19 8 11 0.58 intergenic rs138626273 PSORS1C1 AU 0.0229633 0.0694 Uncertain 6_31118565_C->G 6 31118565 31118565 C G snp 1837.77 0/1 99 142 64 78 0.55 intergenic rs130078 PSORS1C1 AU 0.730032 0.6756 0.749645 0.7423 0.7020 Uncertain 6_31122126_G->C 6 31122126 31122126 G C snp 488.77 0/1 99 20 6 14 0.7 intergenic rs2073717 PSORS1C1 AU 0.615615 0.6131 Uncertain 6_31125067_-->AACT 6 31125067 31125067 - AACT indel 1567.73 0/1 99 62 28 34 0.55 intergenic rs10602569 PSORS1C1 AU 0.769169 0.6766 Uncertain 6_31125158_C->T 6 31125158 31125158 C T snp 1277.77 0/1 99 117 60 57 0.49 intergenic rs743401 PSORS1C1 AU 0.654952 0.6141 0.633506 0.6224 0.6021 0 D 1.000 P -1.078 T Uncertain 6_31129616_A->G 6 31129616 31129616 A G snp 2123.77 0/1 99 189 102 87 0.46 exonic rs2073721 TCF19 AU nonsynonymous SNV NM_007109 exon3 c.A631G p.M211V 0.769169 0.6756 0.792127 0.7522 0.6970 1 T 0.0 P -0.940 T 0.0 T 0.0 T Pathogenic 6_31129642_A->C 6 31129642 31129642 A C snp 2343.77 0/1 99 206 109 97 0.47 exonic rs2073722 TCF19 AU synonymous SNV NM_007109 exon3 c.A657C p.P219P 0.769169 0.6766 0.7523 0.6979 Uncertain 6_31130078_T->C 6 31130078 31130078 T C snp 224.77 0/1 99 15 8 7 0.47 intronic rs2073723 TCF19 AU NM_007109 exon4 c.3007-175T>C 0.769369 0.6766 Uncertain 6_31130244_CTTC->- 6 31130244 31130247 CTTC - indel 6944.73 0/1 99 205 87 118 0.58 intronic rs3216869 TCF19 AU NM_007109 exon4 c.3007-9_3007-6delCTTC 0.0978435 0.1825 0.057556 0.0505 0.1823 Uncertain 6_31130502_T->C 6 31130502 31130502 T C snp 1423.77 0/1 99 94 46 48 0.51 UTR3 rs1065461 TCF19 AU 0.769169 0.6766 0.794616 0.7540 0.7013 Uncertain 6_31132649_A->C 6 31132649 31132649 A C snp 1422.77 0/1 99 170 105 65 0.38 downstream TCF19 AU 0.68151 0.6419 0.704788 0.6586 0.6636 Uncertain 6_31132689_-->GA 6 31132689 31132689 - GA indel 1348.73 0/1 99 125 75 50 0.4 downstream TCF19 AU 0.68151 0.6419 0.701756 0.6282 0.6344 Uncertain 6_31133509_G->A 6 31133509 31133509 G A snp 2615.77 0/1 99 243 128 115 0.47 intergenic TCF19 AU 0.68151 0.6419 0.706022 0.6600 0.6590 Uncertain 6_31133620_-->AG 6 31133620 31133620 - AG indel 1506.73 0/1 99 80 39 41 0.51 intergenic TCF19 AU 0.68151 0.6419 Uncertain 6_31133894_G->C 6 31133894 31133894 G C snp 3139.77 0/1 99 248 120 128 0.52 intergenic TCF19 AU 0.109425 0.1825 0.072902 0.0543 0.1841 Uncertain 6_31133943_C->A 6 31133943 31133943 C A snp 2939.77 0/1 99 246 119 127 0.52 intergenic TCF19 AU 0.68131 0.6419 0.706806 0.6766 0.6796 0.000 P -1.075 T ID=CR921182;DIS=Altered translation;TAG=FP;PUB=1408763 FP Uncertain 6_31133982_C->T 6 31133982 31133982 C T snp 2483.77 0/1 99 227 118 109 0.48 intergenic TCF19 AU 0.0229633 0.0694 0.005994 0.0184 0.0899 Uncertain 6_31134118_-->GAG 6 31134118 31134118 - GAG indel 7925.73 1/1 99 152 0 152 1.0 intergenic TCF19 AU 0.857428 0.8165 0.8101 0.8182 Uncertain 6_31134175_C->T 6 31134175 31134175 C T snp 754.77 0/1 99 65 36 29 0.45 intergenic TCF19 AU 0.567093 0.5794 0.5273 0.5584 Uncertain 6_31134721_-->CTC 6 31134721 31134721 - CTC indel 1187.73 0/1 99 47 24 23 0.49 intergenic TCF19 AU 0.761382 0.6756 Uncertain 6_31134833_C->T 6 31134833 31134833 C T snp 791.77 0/1 99 70 33 37 0.53 intergenic TCF19 AU 0.0211661 0.0605 Uncertain 6_31134888_T->C 6 31134888 31134888 T C snp 625.77 0/1 99 43 20 23 0.53 intergenic TCF19 AU 0.723642 0.6577 Uncertain 6_31138335_C->T 6 31138335 31138335 C T snp 56.77 0/1 85 9 4 5 0.56 intergenic TCF19 AU 0.0359425 0.1042 0.0214 0.1459 Uncertain 6_31165566_T->C 6 31165566 31165566 T C snp 7139.77 1/1 99 250 0 250 1.0 intergenic TCF19 AU 0.895367 0.8373 0.8724 0.7803 Uncertain 6_31165962_G->A 6 31165962 31165962 G A snp 1556.77 1/1 99 54 1 53 0.98 intergenic TCF19 AU 0.88139 0.8175 0.8668 0.7721 Uncertain 6_31170118_TG->- 6 31170118 31170119 TG - indel 311.73 0/1 99 15 7 8 0.53 intergenic TCF19 AU 0.251398 0.4147 0.2407 0.4044 Uncertain 6_31236716_C->- 6 31236716 31236716 C - indel 238.77 1/1 21 7 0 7 1.0 intergenic TCF19 AU 0.760383 0.8135 Uncertain 6_31236722_C->T 6 31236722 31236722 C T snp 266.8 1/1 21 10 0 10 1.0 intergenic TCF19 AU 0.759984 0.8135 Uncertain 6_31236853_G->A 6 31236853 31236853 G A snp 3051.77 1/1 99 111 1 110 0.99 intergenic rs1065711 TCF19 AU 0.888578 0.8274 0.8643 0.8266 1 T 0.000 P -0.965 T 0.0 T 0.0 T Uncertain 6_31236900_G->A 6 31236900 31236900 G A snp 1308.77 0/1 99 137 80 57 0.42 intergenic rs1049853 TCF19 AU 0.0902556 0.1022 0.110097 0.1004 0.0977 Uncertain 6_31236998_C->T 6 31236998 31236998 C T snp 2860.77 1/1 99 104 0 104 1.0 intergenic rs2001181 TCF19 AU 0.889177 0.8294 0.883768 0.8640 0.8252 Uncertain 6_31237014_G->A 6 31237014 31237014 G A snp 2324.77 1/1 99 82 0 82 1.0 intergenic rs3998381 TCF19 AU 0.785543 0.8135 Uncertain 6_31237017_C->T 6 31237017 31237017 C T snp 2214.77 1/1 99 81 0 81 1.0 intergenic rs2394960 TCF19 AU 0.760583 0.8135 Uncertain 6_31237027_C->T 6 31237027 31237027 C T snp 2287.77 1/1 99 77 0 77 1.0 intergenic rs2394961 TCF19 AU 0.760583 0.8135 Uncertain 6_31237048_A->G 6 31237048 31237048 A G snp 2157.77 1/1 99 67 0 67 1.0 intergenic rs9264594 TCF19 AU 0.785543 0.8135 Uncertain 6_31237061_C->T 6 31237061 31237061 C T snp 878.77 0/1 99 64 32 32 0.5 intergenic rs2894204 TCF19 AU 0.73103 0.746 Uncertain 6_31237124_T->C 6 31237124 31237124 T C snp 2491.77 1/1 99 85 0 85 1.0 intergenic rs1130838 TCF19 AU 0.785343 0.8135 0.725290 0.7331 0.8068 1 T 0.0 P -0.991 T 0.0 T 0.003 T Uncertain 6_31237162_C->G 6 31237162 31237162 C G snp 3137.77 1/1 99 120 0 120 1.0 intergenic rs35708511 TCF19 AU 0.785543 0.8135 0.724763 0.7329 0.8069 0.03 T 0.0 P -0.998 T 0.0 T 0.001 T Uncertain 6_31237230_A->G 6 31237230 31237230 A G snp 3260.77 1/1 99 105 0 105 1.0 intergenic rs9264596 TCF19 AU 0.785543 0.8135 0.702061 0.7303 0.8029 Uncertain 6_31237233_A->G 6 31237233 31237233 A G snp 3139.77 1/1 99 101 0 101 1.0 intergenic rs9264597 TCF19 AU 0.760583 0.8135 0.676226 0.7169 0.8026 Uncertain 6_31237255_G->A 6 31237255 31237255 G A snp 3017.77 1/1 99 100 1 99 0.99 intergenic rs2523609 TCF19 AU 0.750799 0.8125 0.659157 0.6932 0.8052 Uncertain 6_31237284_C->T 6 31237284 31237284 C T snp 1128.77 0/1 99 79 36 43 0.54 intergenic rs76294545 TCF19 AU 0.000599042 0.003 0.0005 0.0066 1 T 1 N -1.023 T 0.001 T 0.012 T Uncertain 6_31237323_A->G 6 31237323 31237323 A G snp 1624.77 1/1 99 49 0 49 1.0 intergenic rs68094471 TCF19 AU 0.785543 0.8135 0.716131 0.7352 0.8075 Uncertain 6_31237333_T->A 6 31237333 31237333 T A snp 1427.77 1/1 99 37 0 37 1.0 intergenic rs66772001 TCF19 AU 0.785543 0.8135 0.716054 0.7355 0.8091 Uncertain 6_31237353_T->C 6 31237353 31237353 T C snp 718.77 1/1 54 18 0 18 1.0 intergenic rs67827555 TCF19 AU 0.785543 0.8135 0.707673 0.7372 0.8130 Uncertain 6_31237405_C->T 6 31237405 31237405 C T snp 113.03 1/1 12 4 0 4 1.0 intergenic rs56010430 TCF19 AU 0.785543 0.8135 Uncertain 6_31237703_G->A 6 31237703 31237703 G A snp 464.77 0/1 99 42 24 18 0.43 intergenic rs17886880 TCF19 AU 0.386182 0.5675 0.259268 0.3357 0.5574 Uncertain 6_31237723_G->A 6 31237723 31237723 G A snp 1820.77 1/1 99 61 0 61 1.0 intergenic rs9264610 TCF19 AU 0.785343 0.8135 0.7027 0.7751 Uncertain 6_31237727_T->C 6 31237727 31237727 T C snp 2058.77 1/1 99 64 0 64 1.0 intergenic rs2074497 TCF19 AU 0.785343 0.8135 0.7029 0.7754 0.39 T 0.0 P -0.992 T 0.0 T 0.0 T Uncertain 6_31237767_T->C 6 31237767 31237767 T C snp 2610.77 1/1 99 83 0 83 1.0 intergenic rs1130935 TCF19 AU 0.777356 0.8075 0.473059 0.6782 0.7553 1 T 1 N -0.990 T 0.0 T 0.0 T Uncertain 6_31237769_G->A 6 31237769 31237769 G A snp 2450.77 1/1 99 83 0 83 1.0 intergenic rs1050105 TCF19 AU 0.757588 0.8115 0.6673 0.7549 0.33 T 0.0 P -1.042 T 0.0 T 0.001 T Uncertain 6_31237771_G->A 6 31237771 31237771 G A snp 2580.77 1/1 99 83 0 83 1.0 intergenic rs1050106 TCF19 AU 0.777356 0.8075 0.6771 0.7547 Uncertain 6_31237773_T->C 6 31237773 31237773 T C snp 2552.77 1/1 99 83 0 83 1.0 intergenic rs1130947 TCF19 AU 0.777356 0.8075 0.073153 0.6781 0.7553 1 T 0.0 P -1.009 T 0.0 T 0.001 T Uncertain 6_31237774_G->C 6 31237774 31237774 G C snp 2532.77 1/1 99 84 0 84 1.0 intergenic rs41540512 TCF19 AU 0.754593 0.8075 0.401276 0.6690 0.7553 Uncertain 6_31237776_C->T 6 31237776 31237776 C T snp 1032.77 0/1 99 101 59 42 0.42 intergenic rs1050118 TCF19 AU 0.283347 0.244 0.021114 0.2867 0.2228 0 D 1 N -0.939 T 0.135 T 0.081 T Uncertain 6_31237786_A->T 6 31237786 31237786 A T snp 3416.77 1/1 99 123 0 123 1.0 intergenic rs41556617 TCF19 AU 0.609800 0.6857 0.7568 Uncertain 6_31237802_A->G 6 31237802 31237802 A G snp 3712.77 1/1 99 134 0 134 1.0 intergenic rs1050147 TCF19 AU 0.625964 0.6975 0.7732 0.41 T 0.0 P -0.936 T 0.0 T 0.001 T Uncertain 6_31237833_T->C 6 31237833 31237833 T C snp 3909.77 1/1 99 145 0 145 1.0 intergenic rs1050180 TCF19 AU 0.763978 0.8125 0.676552 0.7150 0.8035 1 T 0.0 P -1.019 T 0.0 T 0.0 T Uncertain 6_31237858_T->C 6 31237858 31237858 T C snp 1556.77 0/1 99 126 59 67 0.53 intergenic rs34794906 TCF19 AU 0.410343 0.5665 0.275392 0.3487 0.5770 Uncertain 6_31237862_T->C 6 31237862 31237862 T C snp 1461.77 0/1 99 124 63 61 0.49 intergenic TCF19 AU 0.0902556 0.1022 0.102031 0.1011 0.0980 0.08 T 1.0 P -1.001 T 0.0 T 0.0 T Uncertain 6_31237876_A->G 6 31237876 31237876 A G snp 3455.77 1/1 99 118 0 118 1.0 intergenic rs9264622 TCF19 AU 0.785144 0.8135 0.650462 0.7174 0.8017 Uncertain 6_31237897_C->T 6 31237897 31237897 C T snp 1352.77 0/1 99 132 76 56 0.42 intergenic rs2234776 TCF19 AU 0.257788 0.3135 0.165614 0.1976 0.3052 Uncertain 6_31237932_AGA->- 6 31237932 31237934 AGA - indel 6815.73 1/1 99 121 0 121 1.0 intergenic rs35424484 TCF19 AU 0.737819 0.8036 Uncertain 6_31237950_T->C 6 31237950 31237950 T C snp 2426.77 1/1 99 93 0 93 1.0 intergenic rs9264623 TCF19 AU 0.769968 0.8036 0.4030 0.4808 Uncertain 6_31237955_T->G 6 31237955 31237955 T G snp 2346.77 1/1 99 89 0 89 1.0 intergenic rs9264624 TCF19 AU 0.76877 0.8036 0.3794 0.4479 Uncertain 6_31237960_G->C 6 31237960 31237960 G C snp 2234.77 1/1 99 87 0 87 1.0 intergenic rs9264625 TCF19 AU 0.753994 0.7976 0.3624 0.4331 Uncertain 6_31237962_T->C 6 31237962 31237962 T C snp 2202.77 1/1 99 86 0 86 1.0 intergenic rs9264626 TCF19 AU 0.744808 0.7976 0.3550 0.4235 Uncertain 6_31237963_G->A 6 31237963 31237963 G A snp 2142.77 1/1 99 86 0 86 1.0 intergenic rs9264627 TCF19 AU 0.750998 0.7986 0.3451 0.4128 Uncertain 6_31237965_G->C 6 31237965 31237965 G C snp 346.77 0/1 99 91 73 18 0.2 intergenic rs17886232 TCF19 AU 0.363419 0.5556 0.1361 0.2771 Uncertain 6_31237971_C->T 6 31237971 31237971 C T snp 2306.77 1/1 99 92 0 92 1.0 intergenic rs9264628 TCF19 AU 0.3160 0.3842 Uncertain 6_31237975_T->C 6 31237975 31237975 T C snp 2367.77 1/1 99 94 0 94 1.0 intergenic rs9264629 TCF19 AU 0.3438 0.4016 Uncertain 6_31237991_G->T 6 31237991 31237991 G T snp 2423.77 1/1 99 96 0 96 1.0 intergenic rs2308628 TCF19 AU 0.749601 0.7917 0.3813 0.4383 1 T 0.000 P -0.905 T 0.0 T 0.001 T Uncertain 6_31238009_T->C 6 31238009 31238009 T C snp 363.77 0/1 99 90 71 19 0.21 intergenic rs1131014 TCF19 AU 0.511382 0.5744 0.1876 0.2733 0.000 P -1.017 T Uncertain 6_31238010_T->G 6 31238010 31238010 T G snp 2213.77 1/1 99 90 0 90 1.0 intergenic rs1131015 TCF19 AU 0.721246 0.7758 0.4114 0.4829 1 T 0.0 P -0.934 T 0.0 T 0.0 T Uncertain 6_31238029_T->C 6 31238029 31238029 T C snp 1962.77 1/1 99 76 0 76 1.0 intergenic rs2308622 TCF19 AU 0.770767 0.8006 0.5381 0.6135 1 T 0.0 P -0.998 T 0.0 T 0.001 T Uncertain 6_31238053_G->C 6 31238053 31238053 G C snp 1261.77 1/1 99 45 0 45 1.0 intergenic rs707908 TCF19 AU 0.6576 0.7628 1 T 0.0 P -0.967 T 0.0 T 0.003 T Uncertain 6_31238135_G->A 6 31238135 31238135 G A snp 916.77 1/1 69 32 0 32 1.0 intergenic rs1050317 TCF19 AU 0.776558 0.8046 0.6908 0.7586 Uncertain 6_31238138_C->T 6 31238138 31238138 C T snp 1003.77 1/1 75 34 0 34 1.0 intergenic rs1050320 TCF19 AU 0.776558 0.8046 0.6900 0.7604 Uncertain 6_31238147_C->G 6 31238147 31238147 C G snp 659.77 0/1 99 37 14 23 0.62 intergenic rs1050326 TCF19 AU 0.3524 0.2178 Uncertain 6_31238155_G->A 6 31238155 31238155 G A snp 231.77 0/1 99 38 25 13 0.34 intergenic rs1050328 TCF19 AU 0.386182 0.5675 0.287531 0.3375 0.5594 0.1 T 0.001 P -1.014 T 0.003 T 0.002 T Uncertain 6_31238230_G->C 6 31238230 31238230 G C snp 2586.77 1/1 99 96 0 96 1.0 intergenic rs1050716 TCF19 AU 0.783347 0.8135 0.714857 0.7302 0.8041 1 T 0.0 P -0.987 T 0.0 T 0.003 T Uncertain 6_31238234_G->A 6 31238234 31238234 G A snp 2594.77 1/1 99 97 0 97 1.0 intergenic rs1050344 TCF19 AU 0.785144 0.8135 0.713242 0.7270 0.8020 0.001 P -1.070 T Uncertain 6_31238259_G->T 6 31238259 31238259 G T snp 2590.77 1/1 99 95 1 94 0.99 intergenic rs1131096 TCF19 AU 0.760184 0.8135 0.709013 0.7146 0.8036 0.3 T 0.0 P -0.967 T 0.0 T 0.001 T Uncertain 6_31238297_C->T 6 31238297 31238297 C T snp 2711.77 1/1 99 94 0 94 1.0 intergenic rs9264636 TCF19 AU 0.785543 0.8135 0.715967 0.7237 0.8009 Uncertain 6_31238308_G->C 6 31238308 31238308 G C snp 2754.77 1/1 99 97 0 97 1.0 intergenic rs9264637 TCF19 AU 0.785543 0.8135 0.716133 0.7101 0.7852 Uncertain 6_31238318_G->A 6 31238318 31238318 G A snp 2500.77 1/1 99 89 1 88 0.99 intergenic rs9264638 TCF19 AU 0.760583 0.8135 Uncertain 6_31238322_C->T 6 31238322 31238322 C T snp 1210.77 0/1 99 84 36 48 0.57 intergenic rs9264639 TCF19 AU 0.0902556 0.1022 Uncertain 6_31238372_C->G 6 31238372 31238372 C G snp 2050.77 1/1 99 70 0 70 1.0 intergenic rs9264640 TCF19 AU 0.785543 0.8135 Uncertain 6_31238377_G->C 6 31238377 31238377 G C snp 1949.77 1/1 99 65 0 65 1.0 intergenic rs9264641 TCF19 AU 0.956669 0.9722 0.8996 0.9768 Uncertain 6_31238490_T->C 6 31238490 31238490 T C snp 1481.77 1/1 99 50 0 50 1.0 intergenic rs9264642 TCF19 AU 0.73103 0.8135 0.7257 0.8123 Uncertain 6_31238492_C->A 6 31238492 31238492 C A snp 1418.77 1/1 99 46 0 46 1.0 intergenic rs9264643 TCF19 AU 0.785543 0.8135 0.7636 0.8134 Uncertain 6_31238522_C->T 6 31238522 31238522 C T snp 493.77 0/1 99 43 22 21 0.49 intergenic rs9264644 TCF19 AU 0.235024 0.2024 0.3234 0.2281 Uncertain 6_31238524_G->A 6 31238524 31238524 G A snp 1225.77 1/1 87 43 0 43 1.0 intergenic rs9264645 TCF19 AU 0.760583 0.8135 0.7472 0.8075 Uncertain 6_31238535_T->C 6 31238535 31238535 T C snp 1182.77 1/1 84 41 0 41 1.0 intergenic rs9264646 TCF19 AU 0.760583 0.8135 Uncertain 6_31238613_A->G 6 31238613 31238613 A G snp 589.77 1/1 45 19 0 19 1.0 intergenic rs9264647 TCF19 AU 0.786342 0.8135 Uncertain 6_31238661_G->A 6 31238661 31238661 G A snp 267.8 1/1 21 7 0 7 1.0 intergenic rs9264648 TCF19 AU 0.500998 0.5506 Uncertain 6_31238662_A->G 6 31238662 31238662 A G snp 264.8 1/1 21 7 0 7 1.0 intergenic rs9264649 TCF19 AU 0.52516 0.5506 Uncertain 6_31238759_C->T 6 31238759 31238759 C T snp 232.77 0/1 99 17 7 10 0.59 intergenic rs17884428 TCF19 AU 0.698682 0.7113 Uncertain 6_31238762_T->C 6 31238762 31238762 T C snp 630.77 1/1 48 20 0 20 1.0 intergenic rs9264652 TCF19 AU 0.786941 0.8135 Uncertain 6_31238814_T->C 6 31238814 31238814 T C snp 1314.41 0/1 8 52 6 46 0.88 intergenic rs9264653 TCF19 AU 0.670128 0.751 0.5405 0.5833 Uncertain 6_31238815_A->G 6 31238815 31238815 A G snp 615.77 0/1 99 52 29 23 0.44 intergenic rs41544212 TCF19 AU 0.235623 0.2976 0.126423 0.1785 0.2601 Uncertain 6_31238851_T->C 6 31238851 31238851 T C snp 2472.77 1/1 99 86 0 86 1.0 intergenic rs2308604 TCF19 AU 0.734236 0.7637 0.8288 1.000 P -1.070 T Uncertain 6_31238868_C->T 6 31238868 31238868 C T snp 857.77 0/1 99 97 62 35 0.36 intergenic rs1131103 TCF19 AU 0.1069 0.1000 0.06 T 0.036 P -1.010 T 0.001 T 0.007 T Uncertain 6_31238886_A->G 6 31238886 31238886 A G snp 180.77 0/1 99 104 86 18 0.17 intergenic rs77935220 TCF19 AU 0.0903 0.0327 0.1 T 0.999 N -0.952 T 0.046 T 0.131 T Uncertain 6_31238909_G->A 6 31238909 31238909 G A snp 152.77 0/1 99 104 80 24 0.23 intergenic rs1050686 TCF19 AU 0.378794 0.3641 0.3147 0.3488 0.05 T 1 N -0.885 T 0.925 T 0.676 D Uncertain 6_31238910_T->G 6 31238910 31238910 T G snp 189.77 0/1 99 104 80 24 0.23 intergenic rs1050685 TCF19 AU 0.378794 0.3641 0.3163 0.3556 0.11 T 1 N -0.972 T 0.213 T 0.577 T Uncertain 6_31238930_A->C 6 31238930 31238930 A C snp 715.77 0/1 99 98 65 33 0.34 intergenic rs79636386 TCF19 AU 0.371206 0.372 0.3478 0.3335 0.54 T 0.0 P -0.986 T 0.035 T 0.04 T Uncertain 6_31238942_G->T 6 31238942 31238942 G T snp 1171.77 0/1 99 93 41 52 0.56 intergenic rs2308590 TCF19 AU 0.429113 0.4921 0.605960 0.4048 0.4085 0.44 T 0.0 P -1.005 T 0.0 T 0.004 T Uncertain 6_31238943_C->T 6 31238943 31238943 C T snp 920.77 0/1 99 94 53 41 0.44 intergenic rs41552817 TCF19 AU 0.0325479 0.0952 0.000464 0.0162 0.0899 0.19 T 1 N -0.980 T 0.0 T 0.004 T Uncertain 6_31238957_A->C 6 31238957 31238957 A C snp 2806.77 1/1 99 106 0 106 1.0 intergenic rs1050366 TCF19 AU 0.6850 0.7565 1 T 0.002 P -0.943 T 0.0 T 0.0 T Uncertain 6_31238983_G->C 6 31238983 31238983 G C snp 2642.77 0/1 99 118 12 106 0.9 intergenic rs2308585 TCF19 AU 0.453874 0.4563 0.3159 0.3363 0.000 P -0.932 T Uncertain 6_31238992_G->C 6 31238992 31238992 G C snp 60.77 0/1 89 117 106 11 0.09 intergenic rs41550715 TCF19 AU 0.404952 0.3621 0.3893 0.3445 0.260 P -0.987 T Uncertain 6_31239010_G->A 6 31239010 31239010 G A snp 878.77 0/1 99 115 74 41 0.36 intergenic rs1050371 TCF19 AU 0.2020 0.2654 1.000 P -1.072 T Uncertain 6_31239016_G->A 6 31239016 31239016 G A snp 1507.77 0/1 99 115 49 66 0.57 intergenic rs1050373 TCF19 AU 0.0912 0.0925 1.000 P Uncertain 6_31239050_G->A 6 31239050 31239050 G A snp 1222.77 0/1 99 104 44 60 0.58 intergenic rs713032 TCF19 AU 0.325879 0.2242 0.344377 0.3176 0.2311 0.72 T 0.0 P -0.915 T 0.013 T 0.045 T Uncertain 6_31239057_C->T 6 31239057 31239057 C T snp 1254.77 0/1 99 106 47 59 0.56 intergenic rs2308575 TCF19 AU 0.256789 0.1627 0.280190 0.2593 0.1804 0.39 T 0.0 P -0.720 T 0.001 T 0.004 T Uncertain 6_31239101_G->A 6 31239101 31239101 G A snp 2020.77 ./1 99 83 0 83 1.0 intergenic rs1131115 TCF19 AU 0.171925 0.121 0.1442 0.1292 0.09 T 1 N -0.743 T 0.0 T 0.001 T Uncertain 6_31239101_G->T 6 31239101 31239101 G T snp 2020.77 ./1 99 83 0 83 1.0 intergenic rs1131115 TCF19 AU 0.64377 0.5179 0.856324 0.6560 0.4924 1 T 0.0 P -0.780 T 0.0 T 0.001 T Uncertain 6_31239108_T->A 6 31239108 31239108 T A snp 881.77 0/1 99 78 36 42 0.54 intergenic rs1131118 TCF19 AU 0.267971 0.3026 0.227024 0.2551 0.3053 0.03 T 0.0 P -1.039 T 0.102 T 0.222 T Uncertain 6_31239141_C->T 6 31239141 31239141 C T snp 1167.77 1/1 84 41 1 40 0.98 intergenic rs9264661 TCF19 AU 0.588993 0.5904 0.5994 Uncertain 6_31239151_A->C 6 31239151 31239151 A C snp 1155.77 1/1 84 36 0 36 1.0 intergenic rs67420880 TCF19 AU 0.598243 0.753 0.4858 0.6329 Uncertain 6_31239170_-->A 6 31239170 31239170 - A indel 844.73 1/1 60 20 0 20 1.0 intergenic rs9281300 TCF19 AU 0.622604 0.5397 0.540288 0.5379 0.5670 Uncertain 6_31239172_C->T 6 31239172 31239172 C T snp 201.77 0/1 99 19 10 9 0.47 intergenic rs72558143 TCF19 AU 0.250399 0.3065 0.2790 0.4401 Uncertain 6_31239205_C->T 6 31239205 31239205 C T snp 258.8 1/1 21 8 0 8 1.0 intergenic rs9264663 TCF19 AU 0.785543 0.8135 Uncertain 6_31239227_C->T 6 31239227 31239227 C T snp 301.78 1/1 24 10 0 10 1.0 intergenic rs9264664 TCF19 AU 0.760583 0.8125 Uncertain 6_31239271_ATCCA->- 6 31239271 31239275 ATCCA - indel 1671.73 1/1 60 20 0 20 1.0 intergenic rs540545214 TCF19 AU 0.785543 0.8135 Uncertain 6_31239279_T->C 6 31239279 31239279 T C snp 725.77 1/1 54 20 0 20 1.0 intergenic rs9264665 TCF19 AU 0.785343 0.8125 Uncertain 6_31239296_G->C 6 31239296 31239296 G C snp 376.77 0/1 99 29 16 13 0.45 intergenic rs9264666 TCF19 AU 0.599641 0.6905 Uncertain 6_31239306_T->G 6 31239306 31239306 T G snp 1298.77 1/1 96 37 0 37 1.0 intergenic rs7383157 TCF19 AU 0.888778 0.8294 Uncertain 6_31239346_T->G 6 31239346 31239346 T G snp 1076.77 0/1 99 79 37 42 0.53 intergenic rs11547346 TCF19 AU 0.0329473 0.0972 0.0156 0.0892 Uncertain 6_31239378_T->G 6 31239378 31239378 T G snp 2777.77 1/1 99 102 0 102 1.0 intergenic rs1131123 TCF19 AU 0.548123 0.7212 0.5143 0.7028 1 T 0.0 P -0.910 T 0.0 T 0.001 T Uncertain 6_31239430_C->T 6 31239430 31239430 C T snp 3204.83 1/1 99 120 0 120 1.0 intergenic rs41543814 TCF19 AU 0.462061 0.6567 0.4329 0.6590 1 T 0.0 P -0.994 T 0.002 T 0.008 T Uncertain 6_31239518_C->T 6 31239518 31239518 C T snp 971.77 0/1 99 79 35 44 0.56 intergenic rs1050420 TCF19 AU 0.445288 0.2808 0.436670 0.4234 0.2720 0.000 P -1.016 T Uncertain 6_31239543_C->T 6 31239543 31239543 C T snp 974.77 0/1 99 63 24 39 0.62 intergenic rs1050428 TCF19 AU 0.0902556 0.1022 0.109294 0.1009 0.0985 0.06 T 0.019 P -0.955 T 0.08 T 0.041 T Uncertain 6_31239577_A->C 6 31239577 31239577 A C snp 1415.77 1/1 99 46 0 46 1.0 intergenic rs707911 TCF19 AU 0.633586 0.6161 0.5919 0.6054 1 T 0.0 P -0.999 T 0.0 T 0.005 T Uncertain 6_31239593_T->C 6 31239593 31239593 T C snp 520.77 0/1 99 48 22 26 0.54 intergenic rs41542719 TCF19 AU 0.33127 0.3929 0.3035 0.3746 0.000 P -1.036 T Uncertain 6_31239616_C->A 6 31239616 31239616 C A snp 328.77 0/1 99 43 25 18 0.42 intergenic rs1050445 TCF19 AU 0.234026 0.2937 0.0792 0.1834 1 T 0.0 P -1.019 T 0.001 T 0.111 T Uncertain 6_31239617_G->T 6 31239617 31239617 G T snp 306.77 0/1 99 43 25 18 0.42 intergenic rs1050446 TCF19 AU 0.230631 0.2847 0.0772 0.1826 0.000 P -1.048 T Uncertain 6_31239621_T->G 6 31239621 31239621 T G snp 337.77 0/1 99 45 27 18 0.4 intergenic rs1071650 TCF19 AU 0.165735 0.1042 0.0320 0.0199 0.01 T 1 N -1.030 T 0.366 T 0.47 T Uncertain 6_31239622_C->A 6 31239622 31239622 C A snp 1219.77 1/1 90 45 0 45 1.0 intergenic rs9264668 TCF19 AU 0.691893 0.7768 0.550205 0.5877 0.7266 1 T 0.0 P -0.755 T 0.032 T 0.123 T Uncertain 6_31239652_G->A 6 31239652 31239652 G A snp 698.77 0/1 99 62 28 34 0.55 intergenic rs41556116 TCF19 AU 0.171725 0.122 0.1060 0.0903 0.27 T 0.0 P -1.025 T Uncertain 6_31239660_G->T 6 31239660 31239660 G T snp 822.77 0/1 99 71 31 40 0.56 intergenic rs41559317 TCF19 AU 0.171725 0.122 0.1096 0.0929 0.01 T 0.0 P -1.009 T Uncertain 6_31239681_A->T 6 31239681 31239681 A T snp 2239.77 1/1 99 85 0 85 1.0 intergenic rs9264669 TCF19 AU 0.706869 0.7817 0.617245 0.6672 0.7676 0 D 0.0 P -1.003 T Uncertain 6_31239722_A->C 6 31239722 31239722 A C snp 2580.77 1/1 99 95 0 95 1.0 intergenic rs9264670 TCF19 AU 0.870008 0.8214 0.8610 0.8415 0.005 P Uncertain 6_31239752_C->T 6 31239752 31239752 C T snp 2578.77 1/1 99 95 0 95 1.0 intergenic rs9264671 TCF19 AU 0.646565 0.5595 0.691914 0.6081 0.5455 0 D 0.0 P -1.020 T Uncertain 6_31239761_C->T 6 31239761 31239761 C T snp 1290.77 0/1 99 93 40 53 0.57 intergenic rs41550615 TCF19 AU 0.0295527 0.0675 0.013796 0.0208 0.0608 0 D 1 N -1.020 T Uncertain 6_31239766_C->T 6 31239766 31239766 C T snp 841.77 0/1 99 92 54 38 0.41 intergenic rs9264672 TCF19 AU 0.0904553 0.1032 0.105845 0.1026 0.0992 0 D 0.000 P -0.855 T Uncertain 6_31239802_C->G 6 31239802 31239802 C G snp 3189.78 1/1 99 106 0 106 1.0 intergenic rs1050451 TCF19 AU 0.778155 0.8135 0.711475 0.7438 0.8153 1 T 0.0 P -1.020 T 0.0 T 0.001 T Uncertain 6_31239821_G->T 6 31239821 31239821 G T snp 2977.77 1/1 99 110 0 110 1.0 intergenic rs2308527 TCF19 AU 0.66873 0.7698 0.597321 0.6455 0.7679 0.35 T 0.0 P -1.074 T 0.0 T 0.005 T Uncertain 6_31239827_C->T 6 31239827 31239827 C T snp 3007.77 1/1 99 113 0 113 1.0 intergenic rs2308525 TCF19 AU 0.753195 0.8135 0.683100 0.7316 0.8138 1 T 0.0 P -1.019 T 0.0 T 0.001 T Uncertain 6_31239855_C->G 6 31239855 31239855 C G snp 3342.77 1/1 99 123 0 123 1.0 intergenic rs7767581 TCF19 AU 0.778554 0.8145 0.713540 0.7520 0.8218 Uncertain 6_31239868_G->C 6 31239868 31239868 G C snp 3175.77 1/1 99 114 0 114 1.0 intergenic rs9264674 TCF19 AU 0.778155 0.8145 0.711420 0.7562 0.8245 Uncertain 6_31239869_T->C 6 31239869 31239869 T C snp 1346.77 0/1 99 109 55 54 0.5 intergenic rs2074492 TCF19 AU 0.374201 0.246 0.3907 0.2325 Uncertain 6_31322220_C->T 6 31322220 31322220 C T snp 358.28 0/1 9 14 2 12 0.86 intergenic rs2523610 TCF19 AU 0.171326 0.126 0.2964 0.1911 Uncertain 6_31322229_A->G 6 31322229 31322229 A G snp 160.77 0/1 99 20 12 8 0.4 intergenic rs3819301 TCF19 AU 0.392772 0.3591 0.205307 0.1946 0.1513 Uncertain 6_31322303_C->G 6 31322303 31322303 C G snp 2062.77 0/1 99 163 82 81 0.5 intergenic rs2308655 TCF19 AU 0.592252 0.626 0.495541 0.5247 0.6254 1 T 0.0 P -0.976 T 0.0 T 0.003 T Uncertain 6_31322367_T->G 6 31322367 31322367 T G snp 2249.77 0/1 99 211 103 108 0.51 intergenic rs3819299 TCF19 AU 0.0656949 0.0774 0.040597 0.0753 0.0757 Uncertain 6_31322402_C->T 6 31322402 31322402 C T snp 2035.77 0/1 99 169 75 94 0.56 intergenic rs2442718 TCF19 AU 0.208267 0.1111 0.279871 0.2662 0.1081 Uncertain 6_31322459_T->C 6 31322459 31322459 T C snp 1006.77 0/1 99 64 30 34 0.53 intergenic rs2507992 TCF19 AU 0.209065 0.1121 0.279486 0.2658 0.1080 Uncertain 6_31322470_C->G 6 31322470 31322470 C G snp 1849.77 1/1 99 51 0 51 1.0 intergenic rs2442717 TCF19 AU 0.872204 0.8165 0.835384 0.8466 0.8070 Uncertain 6_31322513_A->C 6 31322513 31322513 A C snp 534.77 1/1 42 14 0 14 1.0 intergenic rs2507991 TCF19 AU 0.790136 0.6796 0.740473 Uncertain 6_31322704_A->G 6 31322704 31322704 A G snp 135.03 1/1 12 4 0 4 1.0 intergenic rs2596497 TCF19 AU 0.872604 0.8185 Uncertain 6_31322742_G->T 6 31322742 31322742 G T snp 231.77 0/1 99 22 14 8 0.36 intergenic rs3819285 TCF19 AU 0.0441294 0.0595 Uncertain 6_31322782_C->G 6 31322782 31322782 C G snp 1692.77 1/1 99 49 0 49 1.0 intergenic rs2596496 TCF19 AU 0.746805 0.6687 Uncertain 6_31322855_C->T 6 31322855 31322855 C T snp 2108.77 0/1 99 173 83 90 0.52 intergenic rs3819282 TCF19 AU 0.0654952 0.0774 0.040521 0.0759 0.0749 Uncertain 6_31322888_A->G 6 31322888 31322888 A G snp 5851.77 1/1 99 216 0 216 1.0 intergenic rs1140546 TCF19 AU 0.819489 0.754 0.772275 0.7713 0.7377 Uncertain 6_31322911_C->T 6 31322911 31322911 C T snp 2408.77 0/1 99 243 135 108 0.44 intergenic rs1051488 TCF19 AU 0.536941 0.5556 0.434005 0.4427 0.5416 0.1 T 0.0 P -0.991 T 0.0 T 0.002 T Uncertain 6_31322980_C->T 6 31322980 31322980 C T snp 2659.77 0/1 99 248 137 111 0.45 intergenic rs1131500 TCF19 AU 0.544529 0.5744 0.436137 0.4472 0.5586 1 T 0.0 P -0.968 T 0.002 T 0.002 T Uncertain 6_31322996_C->T 6 31322996 31322996 C T snp 2459.77 0/1 99 228 127 101 0.44 intergenic rs1130992 TCF19 AU 0.66254 0.7063 0.559242 0.5759 0.6975 Uncertain 6_31323012_G->A 6 31323012 31323012 G A snp 2944.77 0/1 99 210 91 119 0.57 intergenic rs2854001 TCF19 AU 0.145966 0.1081 0.160071 0.1778 0.1061 Uncertain 6_31323020_T->C 6 31323020 31323020 T C snp 2138.77 0/1 99 202 114 88 0.44 intergenic rs2276448 TCF19 AU 0.315495 0.2649 0.237915 0.2590 0.3130 Uncertain 6_31323039_-->GAAGGGCTCCA 6 31323039 31323039 - GAAGGGCTCCA indel 9411.73 0/1 99 215 116 99 0.46 intergenic rs6149511 TCF19 AU 0.60643 0.6369 0.467233 0.4844 0.6107 Uncertain 6_31323067_G->C 6 31323067 31323067 G C snp 705.77 0/1 99 241 189 52 0.22 intergenic rs114505907 TCF19 AU 0.0064 0.0024 Uncertain 6_31323069_T->C 6 31323069 31323069 T C snp 705.77 0/1 99 242 190 52 0.21 intergenic rs116109783 TCF19 AU 0.0062 0.0024 Uncertain 6_31323072_G->C 6 31323072 31323072 G C snp 270.77 0/1 99 238 204 34 0.14 intergenic rs201720765 TCF19 AU 0.0002 0.0005 Uncertain 6_31323115_T->C 6 31323115 31323115 T C snp 813.77 0/1 99 208 150 58 0.28 intergenic rs41541515 TCF19 AU 0.1873 0.2285 0.52 T 1.000 N -0.949 T 0.0 T 0.002 T Uncertain 6_31323116_C->T 6 31323116 31323116 C T snp 44.77 0/1 73 207 187 20 0.1 intergenic rs1131446 TCF19 AU 0.096845 0.0754 0.0474 0.0095 Uncertain 6_31323128_A->G 6 31323128 31323128 A G snp 834.77 0/1 99 198 138 60 0.3 intergenic rs41551014 TCF19 AU 0.1738 0.2117 Uncertain 6_31323134_T->C 6 31323134 31323134 T C snp 825.77 0/1 99 199 141 58 0.29 intergenic rs1050240 TCF19 AU 0.1774 0.2170 Uncertain 6_31323143_T->C 6 31323143 31323143 T C snp 836.77 0/1 99 197 138 59 0.3 intergenic rs41546016 TCF19 AU 0.1807 0.2217 Uncertain 6_31323202_T->C 6 31323202 31323202 T C snp 117.77 0/1 99 98 84 14 0.14 intergenic rs41545916 TCF19 AU 0.2427 0.2593 1 T 0.986 N -1.015 T 0.001 T 0.001 T Uncertain 6_31323296_A->G 6 31323296 31323296 A G snp 4916.77 1/1 99 175 0 175 1.0 intergenic rs1050747 TCF19 AU 0.877196 0.8284 0.836231 0.8489 0.8131 Uncertain 6_31323337_T->C 6 31323337 31323337 T C snp 2629.77 0/1 99 221 110 111 0.5 intergenic rs1050341 TCF19 AU 0.292532 0.2034 0.218822 0.2329 0.2188 1 T 0.0 P -1.003 T 0.0 T 0.001 T Uncertain 6_31323409_T->C 6 31323409 31323409 T C snp 5566.77 1/1 99 206 0 206 1.0 intergenic rs2523605 TCF19 AU 0.872604 0.8185 0.836229 0.8467 0.8080 Uncertain 6_31323468_G->T 6 31323468 31323468 G T snp 1644.77 0/1 99 145 78 67 0.46 intergenic rs3897530 TCF19 AU 0.288738 0.1994 Uncertain 6_31323766_T->C 6 31323766 31323766 T C snp 1377.77 1/1 99 43 0 43 1.0 intergenic rs2523604 TCF19 AU 0.872204 0.8175 Uncertain 6_31323776_-->C 6 31323776 31323776 - C indel 1830.73 1/1 99 44 0 44 1.0 intergenic rs11423052 TCF19 AU 0.805911 0.8115 Uncertain 6_31323838_C->G 6 31323838 31323838 C G snp 3659.77 1/1 99 125 0 125 1.0 intergenic rs2596494 TCF19 AU 0.872604 0.8185 0.8255 0.7370 Uncertain 6_31323945_A->C 6 31323945 31323945 A C snp 3489.77 1/1 99 134 0 134 1.0 intergenic rs2596493 TCF19 AU 0.873802 0.8204 0.8034 0.7386 Uncertain 6_31323953_C->G 6 31323953 31323953 C G snp 2976.77 1/1 99 114 0 114 1.0 intergenic rs1131285 TCF19 AU 0.810903 0.8165 0.6540 0.7030 1 T 0.0 P -1.078 T 0.0 T 0.0 T Uncertain 6_31323958_T->G 6 31323958 31323958 T G snp 2864.77 1/1 99 110 0 110 1.0 intergenic rs1131279 TCF19 AU 0.866014 0.8075 0.708695 0.7420 0.6459 1 T 0.0 P -1.027 T 0.0 T 0.001 T Uncertain 6_31323960_G->C 6 31323960 31323960 G C snp 2796.77 1/1 99 107 0 107 1.0 intergenic rs1131275 TCF19 AU 0.802316 0.8036 0.467568 0.5769 0.6162 1 T 0.0 P -1.025 T 0.0 T 0.0 T Uncertain 6_31323980_A->G 6 31323980 31323980 A G snp 963.77 0/1 99 97 55 42 0.43 intergenic rs1050696 TCF19 AU 0.0701 0.0585 0.14 T 0.017 P -0.864 T 1.0 D 0.999 D Uncertain 6_31324003_T->A 6 31324003 31324003 T A snp 481.77 0/1 99 70 41 29 0.41 intergenic rs2308466 TCF19 AU 0.485024 0.5218 0.490098 0.3765 0.4356 0.03 T 0.0 P -0.917 T 0.019 T 0.119 T Uncertain 6_31324004_C->G 6 31324004 31324004 C G snp 439.77 0/1 99 68 41 27 0.4 intergenic rs2523600 TCF19 AU 0.485024 0.5218 0.488841 0.3773 0.4373 0.16 T 0.0 P -0.985 T 0.19 T 0.277 T Uncertain 6_31324024_C->A 6 31324024 31324024 C A snp 1597.77 0/1 99 67 11 56 0.84 intergenic rs697742 TCF19 AU 0.4998 0.5655 0.5026 0.6043 0.91 T 0.0 P -0.941 T 0.001 T 0.018 T Uncertain 6_31324036_T->A 6 31324036 31324036 T A snp 931.77 0/1 99 66 34 32 0.48 intergenic rs151341293 TCF19 AU 0.425519 0.3839 0.4164 0.3932 1 T 0.0 P -0.860 T 0.001 T 0.01 T Uncertain 6_31324077_C->G 6 31324077 31324077 C G snp 620.77 0/1 99 78 45 33 0.42 intergenic rs709053 TCF19 AU 0.393371 0.3373 0.3867 0.3154 Uncertain 6_31324086_G->C 6 31324086 31324086 G C snp 602.77 0/1 99 78 46 32 0.41 intergenic rs709054 TCF19 AU 0.48762 0.4742 0.4491 0.4165 Uncertain 6_31324100_G->T 6 31324100 31324100 G T snp 704.77 0/1 99 82 45 37 0.45 intergenic rs1050654 TCF19 AU 0.4132 0.4371 0.18 T 0.0 P -0.932 T 0.0 T 0.006 T Uncertain 6_31324104_G->A 6 31324104 31324104 G A snp 59.77 0/1 88 88 79 9 0.1 intergenic rs17839985 TCF19 AU 0.2219 0.2696 Uncertain 6_31324128_C->T 6 31324128 31324128 C T snp 935.77 0/1 99 89 46 43 0.48 intergenic rs1050642 TCF19 AU 0.042221 0.0821 0.0795 Uncertain 6_31324151_C->T 6 31324151 31324151 C T snp 2000.77 1/1 44 83 3 80 0.96 intergenic rs709055 TCF19 AU 0.464257 0.4792 0.436490 0.4540 0.4975 0.38 T 0.0 P -0.968 T 0.0 T 0.001 T Uncertain 6_31324194_G->A 6 31324194 31324194 G A snp 1794.77 1/1 99 58 0 58 1.0 intergenic rs3179865 TCF19 AU 0.568291 0.506 0.2391 0.2559 Uncertain 6_31324200_G->C 6 31324200 31324200 G C snp 1296.77 1/1 93 40 0 40 1.0 intergenic rs1140412 TCF19 AU 0.799121 0.8681 0.597449 0.6534 0.8568 1 T 0.0 P -0.895 T 0.071 T 0.028 T Uncertain 6_31324201_C->G 6 31324201 31324201 C G snp 1323.77 1/1 96 40 0 40 1.0 intergenic rs1071652 TCF19 AU 0.141174 0.1597 0.0698 0.0746 0.53 T 1 N -0.963 T 0.0 T 0.0 T Uncertain 6_31324206_G->C 6 31324206 31324206 G C snp 1317.77 1/1 96 40 0 40 1.0 intergenic rs1131235 TCF19 AU 0.185104 0.1677 Uncertain 6_31324207_A->C 6 31324207 31324207 A C snp 1272.77 1/1 93 40 0 40 1.0 intergenic rs41556312 TCF19 AU 0.185104 0.1677 0 D 1.000 N -0.906 T 0.998 D 0.979 D Uncertain 6_31324208_G->A 6 31324208 31324208 G A snp 1239.77 1/1 90 40 0 40 1.0 intergenic rs12721829 TCF19 AU 0.185104 0.1677 0 0 0.25 T 1 N -0.903 T 0.363 T 0.469 T Uncertain 6_31324209_G->A 6 31324209 31324209 G A snp 1270.77 1/1 93 40 0 40 1.0 intergenic rs1131233 TCF19 AU 0.185104 0.1677 0 0 Uncertain 6_31324229_G->C 6 31324229 31324229 G C snp 536.77 0/1 99 78 52 26 0.33 intergenic rs41556113 TCF19 AU 0.0874 0.0699 Uncertain 6_31324243_C->A 6 31324243 31324243 C A snp 1329.77 0/1 99 79 27 52 0.66 intergenic rs41552913 TCF19 AU 0.0407 0.0280 Uncertain 6_31324245_A->C 6 31324245 31324245 A C snp 2250.77 1/1 99 81 0 81 1.0 intergenic rs5006140 TCF19 AU 0.83746 0.8095 0.7086 0.6508 Uncertain 6_31324247_-->C 6 31324247 31324247 - C indel 540.73 0/1 99 84 57 27 0.32 intergenic rs5875315 TCF19 AU 0.244422 0.2985 0.1299 Uncertain 6_31324369_AG->- 6 31324369 31324370 AG - indel 2411.73 0/1 99 180 108 72 0.4 intergenic rs374195731 TCF19 AU Uncertain 6_31324373_A->G 6 31324373 31324373 A G snp 1535.77 0/1 99 178 108 70 0.39 intergenic rs4999718 TCF19 AU 0.361422 0.4623 Uncertain 6_31324489_C->G 6 31324489 31324489 C G snp 350.77 0/1 99 75 61 14 0.19 intergenic rs3180380 TCF19 AU 0.239417 0.1567 0.045965 0.0724 0.0589 0.35 T 0.0 P -0.984 T 1.0 D 1.0 D Uncertain 6_31324491_C->A 6 31324491 31324491 C A snp 310.77 0/1 99 73 60 13 0.18 intergenic rs3180379 TCF19 AU 0.32528 0.2688 0.0743 0.0661 0.4 T 0.0 P -0.850 T 0.999 D 0.997 D Uncertain 6_31324494_A->G 6 31324494 31324494 A G snp 308.77 0/1 99 72 58 14 0.19 intergenic rs9266161 TCF19 AU 0.288938 0.2421 3.211e-05 0 0 D 1.000 N -1.069 T 1.0 D 1.0 D Uncertain 6_31324495_G->C 6 31324495 31324495 G C snp 320.77 0/1 99 72 59 13 0.18 intergenic rs9266162 TCF19 AU 0.288738 0.2421 1.447e-05 0 0 D 1 N -1.084 T 0.983 D 0.989 D Uncertain 6_31324497_T->A 6 31324497 31324497 T A snp 316.77 0/1 99 71 58 13 0.18 intergenic rs1131223 TCF19 AU 0.207668 0.131 5.59e-05 0 0.2 T 1 N -0.943 T 0.78 T 0.781 P Uncertain 6_31324506_C->T 6 31324506 31324506 C T snp 491.77 0/1 99 73 53 20 0.27 intergenic rs1050388 TCF19 AU 0.35643 0.2778 0.168440 0.2213 0.2099 1 T 0.0 P -0.927 T 0.0 T 0.003 T Uncertain 6_31324516_C->A 6 31324516 31324516 C A snp 1935.77 1/1 99 68 0 68 1.0 intergenic rs1131215 TCF19 AU 0.703874 0.6419 0.481658 0.5931 0.6390 1 T 0.0 P -0.692 T 1.0 D 1.0 D Uncertain 6_31324525_C->T 6 31324525 31324525 C T snp 1371.77 1/1 99 48 0 48 1.0 intergenic rs1131213 TCF19 AU 0.71845 0.6329 0.035789 0.0004 0 1 T 0.0 P -0.955 T 0.005 T 0.032 T Uncertain 6_31324526_C->G 6 31324526 31324526 C G snp 1415.77 1/1 99 47 0 47 1.0 intergenic rs1131212 TCF19 AU 0.795128 0.6915 0.046663 0.0011 0.0016 0.24 T 0.0 P -0.934 T 0.248 T 0.427 T Uncertain 6_31324528_G->T 6 31324528 31324528 G T snp 1350.77 1/1 99 47 0 47 1.0 intergenic rs1071817 TCF19 AU 0.741813 0.6538 0.127960 0.0415 0.0423 0.16 T 0.0 P -0.921 T 0.009 T 0.038 T Uncertain 6_31324531_C->T 6 31324531 31324531 C T snp 1428.77 1/1 99 48 0 48 1.0 intergenic rs1131204 TCF19 AU 0.709864 0.6389 0.647744 0.7037 0.6407 0.31 T 0.0 P -1.047 T 0.001 T 0.007 T Uncertain 6_31324536_T->A 6 31324536 31324536 T A snp 1377.77 ./1 99 49 0 49 1.0 intergenic rs1071816 TCF19 AU 0.346046 0.1736 0.539254 0.2946 0.1218 0.65 T 0.0 P -1.085 T 0.0 T 0.007 T Uncertain 6_31324536_T->G 6 31324536 31324536 T G snp 1377.77 ./1 99 49 0 49 1.0 intergenic rs1071816 TCF19 AU 0.366813 0.4345 0.3134 0.4083 0.38 T 1 N -1.070 T 0.174 T 0.201 T Uncertain 6_31324547_G->C 6 31324547 31324547 G C snp 878.77 0/1 99 62 26 36 0.58 intergenic rs1065386 TCF19 AU 0.454872 0.5853 0.205188 0.3401 0.4656 0.02 T 0.0 P -1.036 T 0.965 D 0.912 D Uncertain 6_31324549_T->C 6 31324549 31324549 T C snp 917.77 0/1 99 64 26 38 0.59 intergenic rs1050570 TCF19 AU 0.454872 0.5853 0.188527 0.3391 0.4659 0.06 T 0.0 P -1.052 T 0.067 T 0.339 T Uncertain 6_31324586_C->T 6 31324586 31324586 C T snp 1616.77 1/1 99 58 0 58 1.0 intergenic rs1050556 TCF19 AU 0.641174 0.7133 0.327638 0.2904 0.3441 Uncertain 6_31324595_C->G 6 31324595 31324595 C G snp 784.77 0/1 99 57 25 32 0.56 intergenic rs1050543 TCF19 AU 0.494409 0.5417 0.210895 0.1629 0.1578 Uncertain 6_31324602_T->G 6 31324602 31324602 T G snp 663.77 0/1 99 52 23 29 0.56 intergenic rs41562914 TCF19 AU 0.268371 0.1677 6.508e-05 0 0.43 T 1 N -0.992 T 0.054 T 0.46 T Uncertain 6_31324603_C->T 6 31324603 31324603 C T snp 1357.77 1/1 99 49 0 49 1.0 intergenic rs9266178 TCF19 AU 0.484824 0.4256 0.0960 0.1117 1 T 0.0 P -0.826 T 0.759 T 0.632 P Uncertain 6_31324604_T->C 6 31324604 31324604 T C snp 1371.77 1/1 99 49 0 49 1.0 intergenic rs9266179 TCF19 AU 0.1303 0.1599 Uncertain 6_31324615_C->T 6 31324615 31324615 C T snp 364.77 0/1 99 51 33 18 0.35 intergenic rs1050529 TCF19 AU 0.211262 0.256 0.086498 0.0993 0.1339 0.06 T 0.0 P -0.989 T 0.999 D 0.984 D Uncertain 6_31324641_T->A 6 31324641 31324641 T A snp 227.77 0/1 99 39 26 13 0.33 intergenic rs1050518 TCF19 AU 0.198682 0.2054 0.061409 0.1017 0.1023 0.05 T 0.285 P -0.968 T 0.998 D 0.994 D Uncertain 6_31324643_G->C 6 31324643 31324643 G C snp 242.77 0/1 99 39 27 12 0.31 intergenic rs1050517 TCF19 AU 0.375799 0.3631 0.342882 0.3788 0.3276 Uncertain 6_31324664_T->G 6 31324664 31324664 T G snp 97.77 0/1 99 30 22 8 0.27 intergenic rs9266184 TCF19 AU 0.22524 0.2629 0.033782 0.1261 0.1569 Uncertain 6_31324666_A->C 6 31324666 31324666 A C snp 789.77 ./1 99 28 0 28 1.0 intergenic rs713031 TCF19 AU 0.496406 0.5724 0.412312 0.4671 0.6686 1 T 0.0 P -1.015 T 0.0 T 0.007 T Uncertain 6_31324666_A->T 6 31324666 31324666 A T snp 789.77 ./1 99 28 0 28 1.0 intergenic rs713031 TCF19 AU 0.197484 0.245 0.1241 0.1521 0.28 T 1 N -1.045 T 0.0 T 0.005 T Uncertain 6_31324667_G->A 6 31324667 31324667 G A snp 567.77 0/1 99 27 8 19 0.7 intergenic rs1050502 TCF19 AU 0.0706869 0.0565 0.0745 0.0737 Uncertain 6_31324702_C->T 6 31324702 31324702 C T snp 346.77 0/1 72 16 4 12 0.75 intergenic rs1050486 TCF19 AU 0.676518 0.6994 0.449204 0.4958 0.5639 0.48 T 0.009 P -0.810 T 0.628 T 0.189 P Uncertain 6_31324705_A->C 6 31324705 31324705 A C snp 346.77 0/1 77 15 4 11 0.73 intergenic rs1131170 TCF19 AU 0.705072 0.7312 0.548171 0.5644 0.6745 0.48 T 0.0 P -0.908 T 0.0 T 0.005 T Uncertain 6_31324711_A->G 6 31324711 31324711 A G snp 49.77 0/1 78 13 10 3 0.23 intergenic rs2596492 TCF19 AU 0.158347 0.1647 0.107125 0.1681 0.1098 0.19 T 0.0 P -0.743 T 0.002 T 0.033 T Uncertain 6_31324742_T->C 6 31324742 31324742 T C snp 458.77 1/1 36 14 0 14 1.0 intergenic rs147324178 TCF19 AU 0.894169 0.9266 0.8187 0.9257 Uncertain 6_31324788_T->C 6 31324788 31324788 T C snp 248.77 0/1 99 20 10 10 0.5 intergenic rs9266193 TCF19 AU 0.497204 0.6478 0.2800 0.4067 0.000 P -1.010 T Uncertain 6_31324790_A->G 6 31324790 31324790 A G snp 293.77 0/1 99 20 10 10 0.5 intergenic rs9266194 TCF19 AU 0.496805 0.6468 0.2861 0.4195 Uncertain 6_31324829_G->C 6 31324829 31324829 G C snp 1362.77 1/1 99 41 0 41 1.0 intergenic rs9266196 TCF19 AU 0.753594 0.8403 0.6104 0.8157 Uncertain 6_31324830_G->A 6 31324830 31324830 G A snp 1234.77 1/1 93 42 0 42 1.0 intergenic rs9266197 TCF19 AU 0.792332 0.8502 0.6173 0.8153 0.000 P -0.984 T Uncertain 6_31324847_C->G 6 31324847 31324847 C G snp 615.77 0/1 99 52 28 24 0.46 intergenic rs9266198 TCF19 AU 0.331869 0.4196 0.2538 0.3987 Uncertain 6_31324851_-->C 6 31324851 31324851 - C indel 2170.73 1/1 99 56 0 56 1.0 intergenic rs137854633 TCF19 AU 0.560903 0.5179 0.404694 0.3712 0.3968 Uncertain 6_31324864_G->A 6 31324864 31324864 G A snp 830.77 0/1 99 69 37 32 0.46 intergenic rs151341076 TCF19 AU 0.0972444 0.0833 0.0235 0.0100 Uncertain 6_31324887_G->C 6 31324887 31324887 G C snp 2080.77 1/1 99 72 0 72 1.0 intergenic rs1131165 TCF19 AU 0.532149 0.3859 0.201420 0.2540 0.2008 0.18 T 0.0 P -1.001 T 0.0 T 0.002 T Uncertain 6_31324888_G->T 6 31324888 31324888 G T snp 2059.77 1/1 99 72 0 72 1.0 intergenic rs1131163 TCF19 AU 0.53155 0.3839 0.179438 0.2507 0.1958 Uncertain 6_31324892_G->C 6 31324892 31324892 G C snp 2136.77 1/1 99 74 0 74 1.0 intergenic rs1131159 TCF19 AU 0.702077 0.7282 0.270670 0.3997 0.5817 1 T 0.0 P -0.987 T 0.0 T 0.0 T Uncertain 6_31324895_G->C 6 31324895 31324895 G C snp 2164.77 1/1 99 75 0 75 1.0 intergenic rs1131156 TCF19 AU 0.561502 0.4514 0.247599 0.2756 0.2792 0.18 T 0.0 P -0.957 T 0.0 T 0.0 T Uncertain 6_31324911_C->G 6 31324911 31324911 C G snp 1236.77 0/1 99 105 49 56 0.53 intergenic rs1050462 TCF19 AU 0.230631 0.25 0.098945 0.0789 0.1175 1 T 0.0 P -1.055 T 0.0 T 0.002 T Uncertain 6_31324925_A->G 6 31324925 31324925 A G snp 3210.76 1/1 99 118 0 118 1.0 intergenic rs1050458 TCF19 AU 0.792332 0.8452 0.5895 0.8128 0.23 T 0.0 P -0.935 T 0.0 T 0.0 T Uncertain 6_31324931_A->C 6 31324931 31324931 A C snp 3341.77 1/1 99 127 0 127 1.0 intergenic rs9266206 TCF19 AU 0.79393 0.8462 0.5910 0.8141 0.51 T 0.0 P -1.046 T 0.0 T 0.0 T Uncertain 6_31324953_C->T 6 31324953 31324953 C T snp 3536.77 1/1 99 139 0 139 1.0 intergenic rs9266207 TCF19 AU 0.766973 0.7798 0.5985 0.7585 Uncertain 6_31324996_G->C 6 31324996 31324996 G C snp 3316.77 1/1 99 130 0 130 1.0 intergenic rs2596490 TCF19 AU 0.759984 0.8006 Uncertain 6_31325004_G->A 6 31325004 31325004 G A snp 3067.77 1/1 99 121 0 121 1.0 intergenic rs9266209 TCF19 AU 0.664537 0.7212 Uncertain 6_31325023_T->C 6 31325023 31325023 T C snp 1305.77 0/1 99 98 41 57 0.58 intergenic rs9266210 TCF19 AU 0.486422 0.6319 Uncertain 6_31325025_T->C 6 31325025 31325025 T C snp 1310.77 0/1 99 97 40 57 0.59 intergenic rs9266211 TCF19 AU 0.486422 0.6319 Uncertain 6_31325028_A->G 6 31325028 31325028 A G snp 2564.77 1/1 99 95 0 95 1.0 intergenic rs2596489 TCF19 AU 0.88778 0.9226 Uncertain 6_31325030_T->C 6 31325030 31325030 T C snp 2614.77 1/1 99 95 0 95 1.0 intergenic rs2596488 TCF19 AU 0.888179 0.9226 Uncertain 6_31325049_G->A 6 31325049 31325049 G A snp 2211.77 1/1 99 81 0 81 1.0 intergenic rs9266214 TCF19 AU 0.768171 0.7808 Uncertain 6_31325090_C->T 6 31325090 31325090 C T snp 768.77 1/1 57 24 0 24 1.0 intergenic rs9266216 TCF19 AU 0.754593 0.8393 Uncertain 6_31325092_A->G 6 31325092 31325092 A G snp 730.77 1/1 54 21 0 21 1.0 intergenic rs9266217 TCF19 AU 0.798123 0.8512 Uncertain 6_31325115_A->G 6 31325115 31325115 A G snp 224.84 1/1 18 6 0 6 1.0 intergenic rs9266218 TCF19 AU 0.792532 0.8403 Uncertain 6_31325116_G->T 6 31325116 31325116 G T snp 222.84 1/1 18 6 0 6 1.0 intergenic rs9266219 TCF19 AU 0.792532 0.8403 Uncertain 6_31325136_C->T 6 31325136 31325136 C T snp 54.74 1/1 6 2 0 2 1.0 intergenic rs9266220 TCF19 AU Uncertain 6_31371430_T->C 6 31371430 31371430 T C snp 1258.77 1/1 90 44 0 44 1.0 exonic MICA AU synonymous SNV NM_001177519 exon1 c.T21C p.F7F 0.863419 0.8313 0.810337 0.8824 0.8201 Uncertain 6_31378751_A->G 6 31378751 31378751 A G snp 658.77 0/1 99 55 28 27 0.49 intronic MICA AU NM_001289152 exon3 c.308-97A>G 0.218251 0.122 Uncertain 6_31378768_A->G 6 31378768 31378768 A G snp 1821.77 1/1 99 63 0 63 1.0 intronic MICA AU NM_001289152 exon3 c.308-80A>G 0.753594 0.7817 Uncertain 6_31378772_C->T 6 31378772 31378772 C T snp 721.77 0/1 99 68 38 30 0.44 intronic MICA AU NM_001289152 exon3 c.308-76C>T 0.0810703 0.0913 Uncertain 6_31378956_C->G 6 31378956 31378956 C G snp 2288.77 0/1 99 165 75 90 0.55 exonic MICA AU nonsynonymous SNV NM_001177519 exon3 c.C433G p.L145V 0.218251 0.122 0.181121 0.1808 0.1119 0.04 T 0.0 P -0.958 T 0.999 D 0.997 D Pathogenic 6_31379115_G->A 6 31379115 31379115 G A snp 1340.77 0/1 99 144 86 58 0.4 exonic MICA AU nonsynonymous SNV NM_001177519 exon3 c.G592A p.G198S 0.345447 0.4216 0.259308 0.3469 0.4718 0.03 T 0.0 P -0.952 T 0.472 P 0.091 P Pathogenic 6_31379141_C->G 6 31379141 31379141 C G snp 1011.77 0/1 99 120 72 48 0.4 splicing MICA AU NM_001289152 exon3 c.596+5C>G 0.218251 0.122 0.180902 0.2307 0.1437 Pathogenic 6_31379198_C->A 6 31379198 31379198 C A snp 432.77 0/1 99 56 38 18 0.32 intronic MICA AU NM_001289152 exon3 c.596+62C>A 0.217851 0.122 Uncertain 6_31379304_A->T 6 31379304 31379304 A T snp 50.74 1/1 6 2 0 2 1.0 intronic MICA AU NM_001289152 exon3 c.596+168A>T 0.753594 0.7817 Uncertain 6_31379817_T->C 6 31379817 31379817 T C snp 2263.77 0/1 99 202 101 101 0.5 exonic MICA AU nonsynonymous SNV NM_001177519 exon4 c.T707C p.I236T 0.582468 0.4216 0.4836 0.4197 1 T 0.0 P -0.953 T 0.003 T 0.004 T Pathogenic 6_31379931_G->A 6 31379931 31379931 G A snp 832.77 0/1 99 53 22 31 0.58 exonic MICA AU nonsynonymous SNV NM_001177519 exon4 c.G821A p.R274Q 0.583267 0.4226 0.5000 0.4390 0.41 T 0.0 P -0.916 T 0.029 T 0.01 T Pathogenic 6_31380161_G->- 6 31380161 31380161 G - indel 1815.73 1/1 99 80 0 80 1.0 exonic MICA AU frameshift deletion NM_001177519 exon5 c.952delG p.G318fs 0.204872 0.3869 0.3188 0.5674 ID=COSM1443269;OCCURENCE=1(upper_aerodigestive_tract),5(large_intestine) Pathogenic 6_31380161_-->CT 6 31380161 31380161 - CT indel 1825.73 0/1 99 79 39 40 0.51 exonic MICA AU frameshift insertion NM_001177519 exon5 c.952_953insCT p.G318fs 0.233826 0.127 0.3190 0.2726 Pathogenic 6_31380340_C->T 6 31380340 31380340 C T snp 229.77 0/1 99 20 10 10 0.5 intronic MICA AU NM_001289152 exon5 c.1697+103C>T 0.583067 0.4226 Uncertain 6_31380341_A->G 6 31380341 31380341 A G snp 600.77 1/1 45 20 0 20 1.0 intronic MICA AU NM_001289152 exon5 c.1697+104A>G 0.912141 0.9444 Uncertain 6_31382831_C->T 6 31382831 31382831 C T snp 2688.77 0/1 99 249 138 111 0.45 UTR3 MICA AU 0.0135783 0.0387 0.005256 0.0114 0.0422 Uncertain 6_31382911_A->G 6 31382911 31382911 A G snp 7099.77 1/1 99 250 1 249 1.0 UTR3 MICA AU 0.723243 0.7778 0.553876 0.6222 0.7637 Uncertain 6_31431082_A->G 6 31431082 31431082 A G snp 2279.77 1/1 99 78 0 78 1.0 ncRNA_intronic HCP5 AU 0.86242 0.747 0.857424 Uncertain 6_31431874_G->T 6 31431874 31431874 G T snp 1315.77 0/1 99 126 74 52 0.41 ncRNA_exonic HCP5 AU 0.0533147 0.0784 0.034061 0.0521 0.0655 Uncertain 6_31465832_CT->- 6 31465832 31465833 CT - indel 969.73 0/1 99 46 25 21 0.46 intergenic HCP5 AU 0.282947 0.2748 Uncertain 6_31465915_G->C 6 31465915 31465915 G C snp 1097.77 0/1 99 100 51 49 0.49 intergenic HCP5 AU 0.850639 0.9058 Uncertain 6_31473546_A->G 6 31473546 31473546 A G snp 1544.77 0/1 99 140 69 71 0.51 intergenic HCP5 AU 0.851238 0.9058 0.806245 0.8147 0.9145 0.92 T 0.0 P -0.928 T 0.0 T 0.004 T Uncertain 6_31473561_A->G 6 31473561 31473561 A G snp 1601.77 0/1 99 143 70 73 0.51 intergenic HCP5 AU 0.282947 0.2748 0.324349 0.3035 0.2764 1 T 0.0 P -0.989 T 0.002 T 0.009 T Uncertain 6_31473844_T->C 6 31473844 31473844 T C snp 934.77 0/1 99 75 33 42 0.56 intergenic HCP5 AU 0.851238 0.9058 Uncertain 6_31474000_G->A 6 31474000 31474000 G A snp 1388.77 0/1 99 126 68 58 0.46 intergenic HCP5 AU 0.282548 0.2738 0.326253 0.3027 0.2758 0.05 T 0.0 P -0.936 T 0.697 T 0.165 P Uncertain 6_31474280_G->A 6 31474280 31474280 G A snp 714.77 0/1 99 74 40 34 0.46 intergenic HCP5 AU 0.120008 0.1359 Uncertain 6_31475127_A->G 6 31475127 31475127 A G snp 981.77 0/1 99 95 52 43 0.45 intergenic HCP5 AU 0.853634 0.9058 0.803928 0.8169 0.9140 Uncertain 6_31475413_G->A 6 31475413 31475413 G A snp 306.77 0/1 99 19 8 11 0.58 intergenic HCP5 AU 0.804912 0.876 Uncertain 6_31477461_C->T 6 31477461 31477461 C T snp 40.77 0/1 33 3 1 2 0.67 intergenic HCP5 AU 0.853634 0.9048 Uncertain 6_31477681_A->G 6 31477681 31477681 A G snp 3148.77 0/1 99 249 124 125 0.5 intergenic HCP5 AU 0.804912 0.875 0.779723 0.7817 0.8877 0 D 0.0 P -0.968 T 0.0 T 0.0 T Uncertain 6_31477768_AG->- 6 31477768 31477769 AG - indel 3081.73 0/1 99 141 60 81 0.57 intergenic HCP5 AU 0.804912 0.875 Uncertain 6_31496776_T->G 6 31496776 31496776 T G snp 956.77 0/1 99 54 19 35 0.65 intergenic HCP5 AU 0.883986 0.9028 0.849763 0.8582 0.9269 Uncertain 6_31496791_C->G 6 31496791 31496791 C G snp 1341.77 0/1 99 76 27 49 0.64 intergenic HCP5 AU 0.0864617 0.123 0.107346 0.1184 0.1146 Uncertain 6_31496915_G->A 6 31496915 31496915 G A snp 1539.77 0/1 99 140 66 74 0.53 intergenic HCP5 AU 0.170927 0.1647 0.162085 0.1819 0.1652 0.08 T 0.0 P -0.988 T 0.034 T 0.051 T Uncertain 6_31496925_G->A 6 31496925 31496925 G A snp 1493.77 0/1 99 131 63 68 0.52 intergenic HCP5 AU 0.878794 0.9028 0.841195 0.8562 0.9272 0.14 T 0.0 P -1.035 T 0.087 T 0.029 T Uncertain 6_31496979_G->C 6 31496979 31496979 G C snp 1067.77 0/1 99 81 42 39 0.48 intergenic HCP5 AU 0.00359425 0.0179 0.000119 0.0012 0.0158 Uncertain 6_31497457_A->G 6 31497457 31497457 A G snp 145.77 0/1 99 13 6 7 0.54 downstream DDX39B AU 0.878794 0.9028 Uncertain 6_31497478_A->G 6 31497478 31497478 A G snp 179.77 0/1 99 18 9 9 0.5 downstream DDX39B AU 0.878794 0.9028 0.838476 0.8349 0.9163 Uncertain 6_31497706_C->T 6 31497706 31497706 C T snp 151.77 0/1 99 17 9 8 0.47 downstream DDX39B AU 0.785437 0.7774 0.7523 Uncertain 6_31497744_G->A 6 31497744 31497744 G A snp 151.77 0/1 99 10 5 5 0.5 downstream DDX39B AU 0.878794 0.9028 0.861635 0.8885 0.9 Uncertain 6_31498380_A->- 6 31498380 31498380 A - indel 369.73 0/1 99 21 9 12 0.57 intronic DDX39B AU NM_080598 exon1 c.17+153delA 0.869808 0.878 Uncertain 6_31498384_C->A 6 31498384 31498384 C A snp 330.77 0/1 99 20 9 11 0.55 intronic DDX39B AU NM_080598 exon1 c.17+157C>A 0.869808 0.878 Uncertain 6_31498497_C->A 6 31498497 31498497 C A snp 146.77 0/1 99 10 5 5 0.5 intronic DDX39B AU NM_080598 exon2 c.345-58C>A 0.879193 0.9028 Uncertain 6_31498737_G->A 6 31498737 31498737 G A snp 1696.77 0/1 99 157 83 74 0.47 intronic DDX39B AU NM_080598 exon2 c.493+34G>A 0.171126 0.1657 0.162204 0.1822 0.1661 Uncertain 6_31499354_C->T 6 31499354 31499354 C T snp 110.77 0/1 99 11 6 5 0.45 intronic DDX39B AU NM_080598 exon4 c.972+172C>T 0.878994 0.9028 Uncertain 6_31502861_A->G 6 31502861 31502861 A G snp 86.28 1/1 9 3 0 3 1.0 intronic DDX39B AU NM_080598 exon6 c.4933-282A>G 0.879193 0.9028 Uncertain 6_31504587_G->T 6 31504587 31504587 G T snp 278.77 0/1 99 25 15 10 0.4 intronic DDX39B AU NM_080598 exon7 c.6250+127G>T 0.878994 0.9028 Uncertain 6_31506624_T->C 6 31506624 31506624 T C snp 3280.77 0/1 99 249 121 128 0.51 exonic DDX39B AU synonymous SNV NM_004640 exon4 c.A348G p.V116V 0.878794 0.9028 0.838690 0.8554 0.9252 Uncertain 6_31506648_G->T 6 31506648 31506648 G T snp 3295.77 0/1 99 248 121 127 0.51 intronic DDX39B AU NM_080598 exon8 c.8422+16G>T 0.776957 0.7649 0.772720 0.7573 0.8034 Uncertain 6_31506744_A->C 6 31506744 31506744 A C snp 3200.06 0/1 99 250 124 126 0.5 intronic DDX39B AU NM_080598 exon8 c.8422+112A>C 0.878794 0.9028 0.8554 0.9241 Uncertain 6_31506801_G->A 6 31506801 31506801 G A snp 3430.77 0/1 99 249 112 137 0.55 intronic DDX39B AU NM_080598 exon9 c.8713-122G>A 0.171126 0.1647 0.1841 0.1666 Uncertain 6_31506854_C->T 6 31506854 31506854 C T snp 2951.77 0/1 99 207 86 121 0.58 intronic DDX39B AU NM_080598 exon9 c.8713-69C>T 0.878794 0.9028 0.8562 0.9272 Uncertain 6_31508761_C->T 6 31508761 31508761 C T snp 370.77 0/1 99 30 17 13 0.43 intronic DDX39B AU NM_004640 exon10 c.10231+320C>T 0.878594 0.9028 Uncertain 6_31509355_G->A 6 31509355 31509355 G A snp 1260.77 0/1 99 101 47 54 0.53 intronic DDX39B AU NM_080598 exon11 c.11516-371G>A 0.788538 0.8075 Uncertain 6_31509372_G->A 6 31509372 31509372 G A snp 1390.77 0/1 99 116 57 59 0.51 intronic DDX39B AU NM_080598 exon11 c.11516-354G>A 0.788538 0.8075 0.7645 0.7874 Uncertain 6_31509432_G->A 6 31509432 31509432 G A snp 1416.77 0/1 99 130 67 63 0.48 intronic DDX39B AU NM_080598 exon11 c.11516-294G>A 0.788538 0.8075 0.7614 0.7866 0.21 T 0.000 P -0.976 T Uncertain 6_31509967_G->T 6 31509967 31509967 G T snp 2516.77 0/1 99 250 144 106 0.42 UTR5 DDX39B AU 0.15595 0.1637 0.2124 0.1869 Uncertain 6_31510105_A->G 6 31510105 31510105 A G snp 2861.77 0/1 99 226 104 122 0.54 UTR5 DDX39B AU 0.785343 0.8075 0.7763 0.8131 Uncertain 6_31513864_A->T 6 31513864 31513864 A T snp 790.77 0/1 99 63 28 35 0.56 intergenic DDX39B AU 0.878395 0.9028 0.837383 0.8546 0.9253 Uncertain 6_31514154_CTGT->- 6 31514154 31514157 CTGT - indel 1774.73 0/1 99 59 24 35 0.59 intergenic DDX39B AU 0.878395 0.9028 Uncertain 6_31525448_C->T 6 31525448 31525448 C T snp 485.77 0/1 99 40 20 20 0.5 intergenic DDX39B AU 0.141773 0.2103 0.123174 0.1690 0.1971 ID=CM123581;DIS=Leprosy, susceptibility to, association with;TAG=DP;PUB=22071774 DP Uncertain 6_31525912_C->T 6 31525912 31525912 C T snp 1667.77 1/1 99 57 0 57 1.0 intergenic DDX39B AU 0.982029 1 0.948435 0.9566 1 0.17 T 0.0 P -1.097 T 0.0 T 0.0 T ID=CM085066;DIS=Systemic lupus erythematosus, increased risk, association with;TAG=DP;PUB=18295675 DP Uncertain 6_31540429_C->G 6 31540429 31540429 C G snp 823.77 0/1 99 82 45 37 0.45 intergenic DDX39B AU 0.653754 0.6687 Uncertain 6_31540481_-->TC 6 31540481 31540481 - TC indel 2565.73 0/1 99 194 113 81 0.42 intergenic DDX39B AU 0.245407 0.1895 0.2449 0.1857 Uncertain 6_31540556_T->C 6 31540556 31540556 T C snp 2637.77 0/1 99 250 137 113 0.45 intergenic DDX39B AU 0.274361 0.1974 0.274236 0.2718 0.1980 0.1 T 0.000 P -0.941 T 0.0 T 0.0 T ID=CM103547;DIS=Diabetes, type 2, protection, association;TAG=DP;PUB=20177654 DP Uncertain 6_31558031_T->- 6 31558031 31558031 T - indel 2780.73 1/1 99 63 0 63 1.0 intergenic DDX39B AU 0.490815 0.6399 Uncertain 6_31583155_G->A 6 31583155 31583155 G A snp 1395.77 0/1 99 134 75 59 0.44 intergenic rs2844475 DDX39B AU 0.430511 0.621 0.326618 0.4308 0.5874 Uncertain 6_31583166_G->A 6 31583166 31583166 G A snp 1665.77 0/1 99 122 57 65 0.53 intergenic rs4711274 DDX39B AU 0.130391 0.129 0.122789 0.1453 0.1510 Uncertain 6_31583224_G->A 6 31583224 31583224 G A snp 730.77 0/1 99 75 40 35 0.47 intergenic rs28732150 DDX39B AU 0.104832 0.2431 Uncertain 6_31583827_T->G 6 31583827 31583827 T G snp 166.77 0/1 81 12 4 8 0.67 intergenic rs2259571 DDX39B AU 0.354233 0.5923 Uncertain 6_31583931_C->T 6 31583931 31583931 C T snp 892.77 0/1 99 90 45 45 0.5 intergenic rs2269475 DDX39B AU 0.130391 0.128 0.122243 0.1501 0.1514 ID=CM077912;DIS=Anticentromere antibody positive systemic sclerosis, association;TAG=DP;PUB=17522098 DP Uncertain 6_31584711_G->A 6 31584711 31584711 G A snp 643.77 0/1 99 49 24 25 0.51 intergenic rs564950528 DDX39B AU 0.000199681 0.001 Uncertain 6_31590746_C->T 6 31590746 31590746 C T snp 676.77 0/1 99 54 28 26 0.48 intergenic rs3993757 DDX39B AU 0.0692891 0.2331 Uncertain 6_31590898_C->T 6 31590898 31590898 C T snp 2451.77 0/1 99 243 133 110 0.45 intergenic rs2736172 DDX39B AU 0.378994 0.6042 0.294036 0.4050 0.5743 Uncertain 6_31592064_C->T 6 31592064 31592064 C T snp 771.77 0/1 99 62 32 30 0.48 intergenic rs2280801 DDX39B AU 0.104034 0.244 0.043009 0.0658 0.1953 0 D 1.000 P -1.077 T 0.343 T 0.048 T Uncertain 6_31592820_C->T 6 31592820 31592820 C T snp 660.77 0/1 99 38 18 20 0.53 intergenic rs3135044 DDX39B AU 0.425319 0.622 Uncertain 6_31593476_A->G 6 31593476 31593476 A G snp 2249.77 0/1 99 195 102 93 0.48 intergenic rs2260000 DDX39B AU 0.378794 0.6042 Uncertain 6_31594628_T->A 6 31594628 31594628 T A snp 1754.77 1/1 99 64 0 64 1.0 intergenic rs3130071 DDX39B AU 0.966254 0.9911 0.905095 0.9190 0.9968 Uncertain 6_31595487_A->G 6 31595487 31595487 A G snp 239.77 0/1 99 16 7 9 0.56 intergenic rs2736171 DDX39B AU 0.423323 0.5764 Uncertain 6_31595773_CCTGCTGCCCCA->- 6 31595773 31595784 CCTGCTGCCCCA - indel 4097.73 0/1 99 77 38 39 0.51 intergenic rs149965706 DDX39B AU 0.121006 0.129 0.102994 0.1422 0.1504 ID=COSM1329815;OCCURENCE=1(ovary),1(liver),1(large_intestine),2(upper_aerodigestive_tract) Uncertain 6_31595882_C->A 6 31595882 31595882 C A snp 2165.77 1/1 99 78 0 78 1.0 intergenic rs1046080 DDX39B AU 0.815495 0.9732 0.721801 0.7879 0.9788 0 D 0.000 P -0.958 T 0.0 T 0.0 T Uncertain 6_31597753_G->A 6 31597753 31597753 G A snp 116.77 0/1 99 8 4 4 0.5 intergenic rs2242660 DDX39B AU 0.460264 0.38 Uncertain 6_31601012_T->C 6 31601012 31601012 T C snp 959.77 0/1 99 56 24 32 0.57 intergenic rs2844466 DDX39B AU 0.390176 0.3512 Uncertain 6_31601022_T->C 6 31601022 31601022 T C snp 1146.77 0/1 99 73 34 39 0.53 intergenic rs2844465 DDX39B AU 0.436701 0.369 Uncertain 6_31601344_T->C 6 31601344 31601344 T C snp 3521.77 1/1 99 130 0 130 1.0 intergenic rs2272593 DDX39B AU 0.815296 0.9732 0.722657 0.7893 0.9790 0 D 0.240 P -0.883 T 0.0 T 0.0 T Uncertain 6_31602489_T->C 6 31602489 31602489 T C snp 145.77 0/1 99 10 4 6 0.6 intergenic rs2242657 DDX39B AU 0.133786 0.13 0.123874 0.1497 0.1525 Uncertain 6_31602967_G->A 6 31602967 31602967 G A snp 1157.77 0/1 99 115 66 49 0.43 intergenic rs1046089 DDX39B AU 0.390176 0.3512 0.401046 0.3573 0.3925 0 D 0.958 P -0.732 T 0.957 D 0.513 D ID=CM090830;DIS=Malaria, severe, association with;TAG=DP;PUB=19039607 DP Uncertain 6_31603591_A->G 6 31603591 31603591 A G snp 739.77 0/1 99 71 39 32 0.45 intergenic rs2261033 DDX39B AU 0.431709 0.496 Uncertain 6_31604044_T->G 6 31604044 31604044 T G snp 3563.77 1/1 99 133 0 133 1.0 intergenic rs3132453 DDX39B AU 0.985224 1 0.951410 0.9586 1 0 D 0.000 P -0.876 T 0.0 T 0.0 T ID=CM076016;DIS=Non-Hodgkin lymphoma, reduced risk, association with;TAG=DP;PUB=17827388 DP Uncertain 6_31605199_G->C 6 31605199 31605199 G C snp 2825.77 0/1 99 249 134 115 0.46 intergenic rs2736155 DDX39B AU 0.504992 0.6181 0.440360 0.5092 0.5879 Uncertain 6_31607050_C->T 6 31607050 31607050 C T snp 824.77 1/1 60 27 0 27 1.0 intergenic rs750332 DDX39B AU 0.821286 0.8393 0.795276 0.8372 0.8576 Uncertain 6_31607943_AG->- 6 31607943 31607944 AG - indel 281.73 0/1 99 13 5 8 0.62 intergenic rs202172137 DDX39B AU 0.0211661 0.0685 0.0094 0.0601 Uncertain 6_31610529_A->G 6 31610529 31610529 A G snp 290.77 0/1 99 39 26 13 0.33 intergenic rs1077393 DDX39B AU 0.504193 0.6181 Uncertain 6_31610686_A->G 6 31610686 31610686 A G snp 1490.77 0/1 99 174 106 68 0.39 intergenic rs1052486 DDX39B AU 0.504193 0.6181 0.436337 0.5323 0.6053 1 T 0.000 P -0.965 T 0.0 T 0.0 T ID=CM067350;DIS=Lung cancer, susceptibility to, association with;TAG=DP;PUB=16741161 DP Uncertain 6_31611777_T->C 6 31611777 31611777 T C snp 5195.77 1/1 99 189 0 189 1.0 intergenic rs760293 DDX39B AU 0.821286 0.8393 0.796682 0.8362 0.8545 Uncertain 6_31611840_C->A 6 31611840 31611840 C A snp 2050.77 0/1 99 209 120 89 0.43 intergenic rs2077102 DDX39B AU 0.127196 0.13 0.116485 0.1461 0.1511 Uncertain 6_31613991_A->G 6 31613991 31613991 A G snp 419.77 1/1 33 12 0 12 1.0 intergenic rs2844464 DDX39B AU 0.820887 0.8393 Uncertain 6_31614102_C->T 6 31614102 31614102 C T snp 1895.77 1/1 99 70 0 70 1.0 intergenic rs2242656 DDX39B AU 0.764776 0.8214 Uncertain 6_31615308_C->G 6 31615308 31615308 C G snp 149.77 0/1 99 11 6 5 0.45 intergenic rs180712068 DDX39B AU 0.00359425 0.0109 Uncertain 6_31616366_G->A 6 31616366 31616366 G A snp 257.77 0/1 99 18 8 10 0.56 intergenic rs805303 DDX39B AU 0.435903 0.369 Uncertain 6_31619315_-->A 6 31619315 31619315 - A indel 183.73 0/1 99 19 10 9 0.47 intergenic rs148181699 DDX39B AU 0.126997 0.13 Uncertain 6_31627449_C->G 6 31627449 31627449 C G snp 1431.77 0/1 99 144 85 59 0.41 intergenic DDX39B AU 0.126997 0.131 0.116260 0.1467 0.1521 0.01 T 0.042 P -1.019 T 0.979 D 0.747 D Uncertain 6_31627523_C->T 6 31627523 31627523 C T snp 3700.77 1/1 99 130 0 130 1.0 intergenic DDX39B AU 0.815695 0.9722 0.723815 0.7904 0.9790 0.8 T 0.0 P -0.967 T 0.0 T 0.006 T Uncertain 6_31629953_A->G 6 31629953 31629953 A G snp 258.77 0/1 99 20 8 12 0.6 intergenic rs7029 DDX39B AU 0.410942 0.369 Uncertain 6_31630241_C->T 6 31630241 31630241 C T snp 2118.77 0/1 99 155 70 85 0.55 intergenic rs7992 DDX39B AU 0.410942 0.369 0.366706 0.3267 0.4078 Uncertain 6_31630318_C->G 6 31630318 31630318 C G snp 812.77 0/1 99 93 56 37 0.4 intergenic rs28732158 DDX39B AU 0.103634 0.244 0.038890 0.0653 0.1939 0.27 T 0.0 P -1.092 T 0.624 T 0.467 P Uncertain 6_31633165_C->A 6 31633165 31633165 C A snp 1605.77 0/1 99 131 61 70 0.53 intergenic rs2295664 DDX39B AU 0.126797 0.13 Uncertain 6_31634758_G->A 6 31634758 31634758 G A snp 5553.77 1/1 99 206 0 206 1.0 intergenic rs3132448 DDX39B AU 1 1 0.9999 1 Uncertain 6_31635710_T->C 6 31635710 31635710 T C snp 1177.77 0/1 99 101 53 48 0.48 intergenic rs14365 DDX39B AU 0.303514 0.2976 0.261648 0.2479 0.3114 Uncertain 6_31635967_A->C 6 31635967 31635967 A C snp 40.77 0/1 69 5 3 2 0.4 intergenic rs201330033 DDX39B AU Uncertain 6_31637807_C->T 6 31637807 31637807 C T snp 2054.77 0/1 99 168 82 86 0.51 intergenic rs4569 DDX39B AU 0.400958 0.3681 Uncertain 6_31640100_C->T 6 31640100 31640100 C T snp 1091.77 0/1 99 79 37 42 0.53 intergenic DDX39B AU 0.000199681 0.001 2.781e-05 0.0004 Uncertain 6_31657413_T->C 6 31657413 31657413 T C snp 2093.77 1/1 99 78 0 78 1.0 ncRNA_exonic rs1475865 ABHD16A AU 0.816094 0.9732 0.724105 0.7967 0.9791 Uncertain 6_31657701_C->A 6 31657701 31657701 C A snp 278.77 0/1 99 32 20 12 0.38 ncRNA_intronic rs760294 ABHD16A AU 0.0950479 0.128 Uncertain 6_31657754_C->G 6 31657754 31657754 C G snp 515.77 0/1 99 67 42 25 0.37 ncRNA_intronic rs707917 ABHD16A AU 0.411542 0.369 Uncertain 6_31659731_T->G 6 31659731 31659731 T G snp 239.77 0/1 99 17 7 10 0.59 ncRNA_intronic rs805282 ABHD16A AU 0.433906 0.381 0.364554 0.3862 0.4645 Uncertain 6_31669150_AC->- 6 31669150 31669151 AC - indel 1113.73 0/1 99 83 41 42 0.51 ncRNA_intronic rs3830950 ABHD16A AU 0.442692 0.377 0.3985 0.4207 Uncertain 6_31669295_A->G 6 31669295 31669295 A G snp 193.77 0/1 99 13 5 8 0.62 ncRNA_intronic rs2295663 ABHD16A AU 0.104233 0.244 Uncertain 6_31675765_G->A 6 31675765 31675765 G A snp 1287.77 0/1 99 117 63 54 0.46 intergenic ABHD16A AU 0.146765 0.1379 0.133412 0.1651 0.1586 0.62 T 0.000 P -0.908 T 0.002 T 0.001 T Uncertain 6_31692163_A->G 6 31692163 31692163 A G snp 82.77 0/1 99 7 3 4 0.57 intergenic ABHD16A AU 0.503594 0.3859 Uncertain 6_31694831_T->A 6 31694831 31694831 T A snp 145.77 0/1 99 13 8 5 0.38 intergenic ABHD16A AU 0.000199681 0.001 Uncertain 6_31708147_T->C 6 31708147 31708147 T C snp 316.77 0/1 99 24 8 16 0.67 intergenic CLIC1 AU 0.219848 0.1687 Uncertain 6_31708328_C->T 6 31708328 31708328 C T snp 689.77 0/1 99 45 14 31 0.69 intergenic CLIC1 AU 0.101837 0.1339 0.066092 0.1463 0.2416 0.04 T 0.995 P -1.030 T 0.0 T 0.002 T ID=CM056007;DIS=Weakened protein interaction;TAG=DFP;PUB=15907804 DFP Uncertain 6_31711124_C->T 6 31711124 31711124 C T snp 422.77 0/1 99 38 21 17 0.45 intergenic CLIC1 AU 0.21905 0.1677 Uncertain 6_31712181_T->G 6 31712181 31712181 T G snp 709.77 0/1 99 64 39 25 0.39 intergenic CLIC1 AU 0.219649 0.1687 Uncertain 6_31713124_A->G 6 31713124 31713124 A G snp 762.77 0/1 99 65 34 31 0.48 intergenic CLIC1 AU 0.135982 0.1359 0.115639 0.1501 0.1492 Uncertain 6_31729359_A->G 6 31729359 31729359 A G snp 2023.77 0/1 99 167 85 82 0.49 intergenic CLIC1 AU 0.467252 0.3512 0.428341 0.3854 0.3461 Uncertain 6_31731014_C->G 6 31731014 31731014 C G snp 594.77 0/1 99 66 40 26 0.39 intergenic CLIC1 AU 0.327077 0.4861 Uncertain 6_31731881_C->T 6 31731881 31731881 C T snp 1835.77 0/1 99 169 87 82 0.49 intergenic CLIC1 AU 0.133586 0.1359 0.108181 0.1464 0.1476 0.2 T 0.0 P -1.044 T 0.0 T 0.0 T Uncertain 6_31740971_G->C 6 31740971 31740971 G C snp 1540.77 0/1 99 119 62 57 0.48 intergenic rs185333600 CLIC1 AU 0.00359425 0.0109 0.0036 0.0112 Uncertain 6_31745284_C->T 6 31745284 31745284 C T snp 504.77 0/1 99 29 10 19 0.66 intergenic CLIC1 AU 0.635383 0.5843 Uncertain 6_31748820_G->A 6 31748820 31748820 G A snp 3117.77 0/1 99 249 135 114 0.46 intergenic CLIC1 AU 0.25599 0.1796 0.225237 0.2169 0.2172 1.000 P -1.025 T Uncertain 6_31749804_C->T 6 31749804 31749804 C T snp 2010.77 0/1 99 250 161 89 0.36 intergenic CLIC1 AU 0.230431 0.1835 Uncertain 6_31765862_T->- 6 31765862 31765862 T - indel 234 1/1 12 20 1 19 0.95 intergenic CLIC1 AU 0.3125 0.2976 0.093522 0.2696 0.2741 Uncertain 6_31778272_G->A 6 31778272 31778272 G A snp 1376.77 0/1 99 127 71 56 0.44 intergenic CLIC1 AU 0.877196 0.7728 0.870060 0.8652 0.8250 0.1 T 0.000 P -0.962 T 0.132 T 0.052 T ID=CM035977;DIS=Increased cytokine concentrations, association with;TAG=DP;PUB=12544996 DP Uncertain 6_31783755_T->C 6 31783755 31783755 T C snp 165.9 1/1 15 234 0 234 1.0 intergenic CLIC1 AU 0.963259 0.9881 0.9347 0.9850 Uncertain 6_31785228_G->C 6 31785228 31785228 G C snp 907.77 0/1 99 86 42 44 0.51 intergenic CLIC1 AU 0.846845 0.7401 0.8207 0.7924 Uncertain 6_31795949_T->C 6 31795949 31795949 T C snp 158.9 1/1 15 204 1 203 1.0 intergenic rs113094932 CLIC1 AU 1 1 0.9999 1 Uncertain 6_31797587_C->G 6 31797587 31797587 C G snp 289.77 0/1 99 44 25 19 0.43 intergenic rs539689 CLIC1 AU 0.393234 0.5719 0.6277 Uncertain 6_31802684_A->C 6 31802684 31802684 A C snp 282.77 0/1 99 25 15 10 0.4 upstream C6orf48 AU 0.0547125 0.2063 0.0259 0.1667 Uncertain 6_31803064_T->- 6 31803064 31803064 T - indel 10345.7 1/1 99 249 0 249 1.0 intronic C6orf48 AU 0.985024 1 0.952166 0.9579 1 Uncertain 6_31807489_C->T 6 31807489 31807489 C T snp 351.77 0/1 99 31 18 13 0.42 UTR3 C6orf48 AU 0.132588 0.1329 0.107753 0.1448 0.1429 Uncertain 6_31836827_T->G 6 31836827 31836827 T G snp 1336.77 0/1 99 122 66 56 0.46 intergenic C6orf48 AU 0.850839 0.7798 Uncertain 6_31846741_C->A 6 31846741 31846741 C A snp 1250.77 0/1 99 100 44 56 0.56 intergenic C6orf48 AU 0.108027 0.1101 0.069968 0.1032 0.1250 0.21 T 0.000 P -1.016 T 0.102 T 0.109 T Uncertain 6_31850332_T->C 6 31850332 31850332 T C snp 256.77 0/1 99 14 6 8 0.57 intergenic C6orf48 AU 0.104034 0.1131 Uncertain 6_31851234_A->G 6 31851234 31851234 A G snp 1798.77 0/1 99 216 125 91 0.42 intergenic C6orf48 AU 0.214257 0.253 0.218350 0.2107 0.2698 Uncertain 6_31851469_C->A 6 31851469 31851469 C A snp 184.77 0/1 99 10 4 6 0.6 intergenic C6orf48 AU 0.286941 0.4137 Uncertain 6_31856070_G->A 6 31856070 31856070 G A snp 1878.77 0/1 99 193 107 86 0.45 intergenic C6orf48 AU 0.823682 0.7758 0.736068 0.7691 0.8222 Uncertain 6_31860337_T->C 6 31860337 31860337 T C snp 2701.77 0/1 99 242 119 123 0.51 intergenic rs535586 C6orf48 AU 0.833267 0.7798 0.748104 0.7719 0.8257 ID=CM068607;DIS=Breast cancer, increased risk, association with;TAG=DP;PUB=16501248 DP Uncertain 6_31861141_A->T 6 31861141 31861141 A T snp 417.77 0/1 99 39 17 22 0.56 intergenic rs2844457 C6orf48 AU 0.329073 0.5476 0.3685 0.5522 0 D 0.0 P -1.021 T Uncertain 6_31864304_G->A 6 31864304 31864304 G A snp 3432.77 0/1 99 248 105 143 0.58 intergenic rs659445 C6orf48 AU 0.824081 0.7778 0.736954 0.7689 0.8223 Uncertain 6_31864547_G->T 6 31864547 31864547 G T snp 1414.77 0/1 99 125 66 59 0.47 intergenic rs7887 C6orf48 AU 0.329073 0.5476 0.256933 0.3843 0.5586 0.69 T 0.000 P -1.038 T 0.0 T 0.0 T Uncertain 6_31868938_C->T 6 31868938 31868938 C T snp 1087.77 0/1 99 78 30 48 0.62 intergenic C6orf48 AU 0.0585064 0.2004 0.024296 0.0429 0.1632 0.37 T 1.000 P -1.044 T 0.186 T 0.08 T Uncertain 6_31904984_A->T 6 31904984 31904984 A T snp 34.77 0/1 63 7 5 2 0.29 ncRNA_intronic C2-AS1 AU 0.038738 0.0754 Uncertain 6_31904985_A->C 6 31904985 31904985 A C snp 68.77 0/1 97 8 5 3 0.38 ncRNA_intronic C2-AS1 AU 0.0367412 0.0744 Uncertain 6_31936668_T->C 6 31936668 31936668 T C snp 1140.77 0/1 99 96 57 39 0.41 intergenic MIR1236 AU 0.839657 0.6905 0.782784 0.7826 0.6920 1.000 P -0.992 T Uncertain 6_31946614_G->A 6 31946614 31946614 G A snp 955.77 0/1 99 72 33 39 0.54 intergenic MIR1236 AU 0.226837 0.2808 Uncertain 6_31946837_C->G 6 31946837 31946837 C G snp 193.77 0/1 99 17 9 8 0.47 intergenic MIR1236 AU 0.839657 0.6905 0.782717 0.7838 0.6947 Uncertain 6_31947460_G->T 6 31947460 31947460 G T snp 93.28 1/1 9 3 0 3 1.0 intergenic MIR1236 AU 0.839257 0.6895 Uncertain 6_31963347_G->T 6 31963347 31963347 G T snp 111.94 0/1 14 60 33 27 0.45 intergenic MIR1236 AU 0.1844 0.2579 Uncertain 6_31964584_C->T 6 31964584 31964584 C T snp 73.77 0/1 99 51 34 17 0.33 intergenic MIR1236 AU 0.3668 0.2877 Uncertain 6_31973863_C->T 6 31973863 31973863 C T snp 716.77 0/1 99 88 34 54 0.61 intergenic MIR1236 AU 0.41234 0.3681 0.5372 0.4067 Uncertain 6_31974723_A->G 6 31974723 31974723 A G snp 2770.77 1/1 99 133 16 117 0.88 intergenic MIR1236 AU 0.880791 0.8899 0.8449 0.8672 Uncertain 6_31975577_T->C 6 31975577 31975577 T C snp 100.77 0/1 99 84 70 14 0.17 intergenic MIR1236 AU 0.294329 0.125 0.0006 0.0002 Uncertain 6_31976139_G->- 6 31976139 31976139 G - indel 224.73 0/1 99 24 14 10 0.42 intergenic MIR1236 AU 0.0794728 0.2589 0.071097 0.1264 0.3573 Uncertain 6_31976140_G->C 6 31976140 31976140 G C snp 187.77 0/1 99 23 14 9 0.39 intergenic MIR1236 AU 0.0794728 0.2589 0.1170 0.3448 Uncertain 6_31976916_C->T 6 31976916 31976916 C T snp 71.28 1/1 9 63 28 35 0.56 intergenic MIR1236 AU 0.5091 0.6067 Uncertain 6_31976926_C->T 6 31976926 31976926 C T snp 77.28 1/1 9 65 27 38 0.58 intergenic MIR1236 AU 0.5167 0.5775 Uncertain 6_31977281_G->C 6 31977281 31977281 G C snp 287.77 0/1 99 104 52 52 0.5 intergenic MIR1236 AU 0.592652 0.5833 0.5587 0.6042 Uncertain 6_31977391_C->T 6 31977391 31977391 C T snp 1856.77 1/1 99 131 23 108 0.82 intergenic MIR1236 AU 0.804912 0.8462 0.7897 0.8193 Uncertain 6_31977493_C->T 6 31977493 31977493 C T snp 819.77 0/1 99 70 33 37 0.53 intergenic MIR1236 AU 0.219449 0.3413 0.1835 0.3207 Uncertain 6_31978687_C->T 6 31978687 31978687 C T snp 323.77 0/1 99 28 13 15 0.54 intergenic MIR1236 AU 0.118411 0.1528 Uncertain 6_31978746_G->A 6 31978746 31978746 G A snp 454.77 0/1 99 47 26 21 0.45 intergenic MIR1236 AU 0.703674 0.5069 0.6851 0.5022 Uncertain 6_31978755_A->G 6 31978755 31978755 A G snp 608.77 0/1 99 50 23 27 0.54 intergenic MIR1236 AU 0.0766773 0.2341 0.036745 0.0622 0.2234 Uncertain 6_31981146_T->C 6 31981146 31981146 T C snp 93.28 1/1 9 3 0 3 1.0 upstream STK19 AU 0.855831 0.8869 Uncertain 6_31981247_T->C 6 31981247 31981247 T C snp 316.77 0/1 99 36 19 17 0.47 upstream STK19 AU 0.120607 0.2639 Uncertain 6_31996484_T->C 6 31996484 31996484 T C snp 847.77 0/1 99 137 92 45 0.33 exonic C4B_2 AU nonsynonymous SNV NM_001242823 exon26 c.T3245C p.V1082A 0.000998403 0.005 0.0004 0.0056 0.04 T 0.999 D -0.641 T 1.0 D 0.995 D Pathogenic 6_31997129_G->C 6 31997129 31997129 G C snp 1187.77 0/1 99 119 69 50 0.42 intronic C4B_2 AU NM_001242823 exon28 c.14493+14G>C 0.075943 0.0705 0.0574 Uncertain 6_31997132_-->C 6 31997132 31997132 - C indel 1453.73 0/1 99 112 67 45 0.4 intronic C4B_2 AU NM_001242823 exon28 c.14493+17insC 0.081954 0.0148 0.0156 Uncertain 6_31997321_C->T 6 31997321 31997321 C T snp 30.77 0/1 59 77 55 22 0.29 intronic C4B_2 AU NM_001242823 exon29 c.14720-21C>T 0.4234 0.3501 Uncertain 6_31997401_G->A 6 31997401 31997401 G A snp 130.77 0/1 99 76 56 20 0.26 exonic C4B_2 AU synonymous SNV NM_001242823 exon29 c.G3735A p.P1245P 0.2397 0.2108 Uncertain 6_31997600_C->G 6 31997600 31997600 C G snp 365.77 0/1 99 142 108 34 0.24 intronic C4B_2 AU NM_001242823 exon29 c.14953+25C>G 0.4753 0.4544 Uncertain 6_32006317_C->T 6 32006317 32006317 C T snp 1443.77 0/1 99 133 63 70 0.53 intergenic C4B_2 AU 0.7891 0.7022 Uncertain 6_32006337_C->A 6 32006337 32006337 C A snp 1403.77 0/1 99 140 69 71 0.51 intergenic C4B_2 AU 0.6636 0.6035 Uncertain 6_32006387_A->T 6 32006387 32006387 A T snp 647.77 0/1 99 138 91 47 0.34 intergenic rs9378252 C4B_2 AU 0.0937 0.3176 0.42 T 1 N -0.957 T 0.404 T 0.173 T ID=CM081568;DIS=Non-classic 21-hydroxylase deficiency;TAG=DM;PUB=18319307 DM Uncertain 6_32006597_C->T 6 32006597 32006597 C T snp 1074.77 1/1 78 64 6 58 0.91 intergenic C4B_2 AU 0.711462 0.7202 0.7421 0.7041 Uncertain 6_32006621_A->C 6 32006621 32006621 A C snp 535.77 0/1 99 37 14 23 0.62 intergenic C4B_2 AU 0.218251 0.2034 0.222351 0.3152 0.2132 Uncertain 6_32006655_C->T 6 32006655 32006655 C T snp 344.77 0/1 99 20 7 13 0.65 intergenic C4B_2 AU 0.218251 0.1925 Uncertain 6_32006761_G->- 6 32006761 32006761 G - indel 482.73 0/1 99 38 20 18 0.47 intergenic C4B_2 AU 0.259784 0.4911 Uncertain 6_32006858_C->A 6 32006858 32006858 C A snp 2229.77 1/1 99 89 0 89 1.0 intergenic rs6467 C4B_2 AU 0.650759 0.6567 0.629347 0.7060 0.7161 0.17 T 0.0 P -1.032 T CLINSIG=pathogenic;CLNDBN=21-hydroxylase_deficiency;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000012939.2;CLNDSDB=GeneReviews:MedGen:OMIM;CLNDSDBID=NBK1171:C0852654:201910 Uncertain 6_32006886_G->A 6 32006886 32006886 G A snp 1005.77 0/1 99 89 46 43 0.48 intergenic rs397515530 C4B_2 AU 0.214856 0.2173 0.231503 0.3341 0.2155 0.83 T 0.0 P -1.072 T 0.0 T 0.002 T CLINSIG=non-pathogenic;CLNDBN=21-hydroxylase_deficiency;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000055817.1;CLNDSDB=GeneReviews:MedGen:OMIM;CLNDSDBID=NBK1171:C0852654:201910 Uncertain 6_32008451_C->T 6 32008451 32008451 C T snp 365.77 0/1 99 147 114 33 0.22 downstream TNXB AR,AD 0.2170 0.1264 Uncertain 6_32010016_G->C 6 32010016 32010016 G C snp 234.77 0/1 99 138 65 73 0.53 intronic TNXB AR,AD NM_032470 exon4 c.917-26G>C 0.230631 0.3661 0.2063 0.4333 Uncertain 6_32010272_T->A 6 32010272 32010272 T A snp 447.77 0/1 99 42 25 17 0.4 exonic TNXB AR,AD nonsynonymous SNV NM_019105 exon40 c.A12164T p.N4055I 0.217053 0.2202 0.229265 0.3113 0.1971 0.06 T 0.0 P -0.739 T 0.989 D 0.819 D Pathogenic 6_32011421_C->T 6 32011421 32011421 C T snp 637.77 0/1 99 49 22 27 0.55 intronic TNXB AR,AD NM_032470 exon9 c.2208+88C>T 0.0205671 0.0714 Uncertain 6_32011714_A->G 6 32011714 32011714 A G snp 953.77 0/1 99 82 38 44 0.54 intronic TNXB AR,AD NM_032470 exon10 c.2544+45A>G 0.551717 0.5179 0.4203 0.5224 Uncertain 6_32015428_C->T 6 32015428 32015428 C T snp 370.77 0/1 99 28 12 16 0.57 intronic TNXB AR,AD NM_019105 exon15 c.6385-82C>T 0.058107 0.2242 Uncertain 6_32015796_A->G 6 32015796 32015796 A G snp 1729.77 0/1 99 127 55 72 0.57 intronic TNXB AR,AD NM_019105 exon15 c.6664+7A>G 0.0720847 0.2808 0.001240 0.0330 0.2634 Uncertain 6_32024832_T->C 6 32024832 32024832 T C snp 99.28 1/1 9 3 0 3 1.0 intronic TNXB AR,AD NM_019105 exon22 c.15555+152T>C 0.598642 0.6399 Uncertain 6_32026107_C->T 6 32026107 32026107 C T snp 2535.77 1/1 99 106 0 106 1.0 exonic TNXB AR,AD nonsynonymous SNV NM_019105 exon22 c.G7553A p.G2518E 0.696086 0.6577 0.685605 0.7192 0.6293 1 T 0.0 P -0.948 T 0.0 T 0.001 T Pathogenic 6_32026257_T->C 6 32026257 32026257 T C snp 1111.77 1/1 81 36 0 36 1.0 intronic TNXB AR,AD NM_019105 exon23 c.17042+90T>C 0.966853 0.9921 Uncertain 6_32029226_A->G 6 32029226 32029226 A G snp 1531.77 1/1 99 55 0 55 1.0 exonic TNXB AR,AD synonymous SNV NM_019105 exon21 c.T7440C p.Y2480Y 0.639976 0.6577 0.634966 0.6907 0.6266 Uncertain 6_32029415_T->C 6 32029415 32029415 T C snp 1077.77 1/1 78 37 0 37 1.0 exonic TNXB AR,AD synonymous SNV NM_019105 exon21 c.A7251G p.L2417L 0.598642 0.6399 0.6008 0.6098 Uncertain 6_32030284_G->A 6 32030284 32030284 G A snp 342.77 0/1 99 22 9 13 0.59 intronic TNXB AR,AD NM_019105 exon25 c.21135+24G>A 0.21845 0.2192 0.3791 0.2685 Uncertain 6_32032743_G->A 6 32032743 32032743 G A snp 3378.77 1/1 99 121 0 121 1.0 exonic TNXB AR,AD synonymous SNV NM_019105 exon19 c.C6696T p.D2232D 0.398762 0.4772 0.358461 0.4401 0.4577 Uncertain 6_32041373_G->A 6 32041373 32041373 G A snp 1019.77 0/1 99 89 48 41 0.46 intronic TNXB AR,AD NM_019105 exon33 c.32298-50G>A 0.0579073 0.2232 Uncertain 6_32050067_T->C 6 32050067 32050067 T C snp 1400.77 1/1 99 48 0 48 1.0 exonic TNXB AR,AD nonsynonymous SNV NM_019105 exon9 c.A3482G p.H1161R 0.586262 0.6399 0.477122 0.5767 0.6109 1 T 0.001 P -0.960 T 0.0 T 0.0 T Pathogenic 6_32064161_C->T 6 32064161 32064161 C T snp 1704.77 0/1 99 161 89 72 0.45 exonic TNXB AR,AD nonsynonymous SNV NM_019105 exon3 c.G1469A p.R490Q 0.00579073 0.0198 0.001175 0.0189 0.0678 0.31 T 0.999 N -0.872 T 0.974 D 0.376 D Pathogenic 6_32088854_G->C 6 32088854 32088854 G C snp 482.77 0/1 99 67 43 24 0.36 exonic ATF6B AU synonymous SNV NM_004381 exon7 c.C612G p.S204S 0.17512 0.1776 0.212056 0.2729 0.1565 Uncertain 6_32095996_A->C 6 32095996 32095996 A C snp 210.77 0/1 99 169 110 59 0.35 UTR5 ATF6B AU 0.0113 0.0053 Uncertain 6_32119898_T->C 6 32119898 32119898 T C snp 6086.77 1/1 99 243 0 243 1.0 intergenic ATF6B AU 0.964257 0.9921 0.9430 0.9891 Uncertain 6_32122386_C->G 6 32122386 32122386 C G snp 2248.77 1/1 99 76 0 76 1.0 ncRNA_exonic PPT2-EGFL8 AU 0.932109 0.9236 0.898267 0.9036 0.9382 0.29 T 1.000 P -0.962 T 0.0 T 0.0 T Uncertain 6_32123361_-->TG 6 32123361 32123361 - TG indel 230.73 0/1 86 13 4 9 0.69 ncRNA_intronic PPT2-EGFL8 AU Uncertain 6_32138545_A->C 6 32138545 32138545 A C snp 222.84 1/1 18 6 0 6 1.0 intergenic rs3130283 PPT2-EGFL8 AU 0.930312 0.9236 Uncertain 6_32147157_G->C 6 32147157 32147157 G C snp 56.74 1/1 6 2 0 2 1.0 intergenic PPT2-EGFL8 AU 0.071885 0.2173 Uncertain 6_32147761_T->C 6 32147761 32147761 T C snp 5662.77 1/1 99 218 2 216 0.99 intergenic PPT2-EGFL8 AU 0.900359 0.8562 0.885361 0.8876 0.8862 Uncertain 6_32149756_C->T 6 32149756 32149756 C T snp 43.77 0/1 72 7 4 3 0.43 intergenic PPT2-EGFL8 AU 0.0756789 0.0883 Uncertain 6_32149801_C->T 6 32149801 32149801 C T snp 183.77 0/1 99 15 7 8 0.53 intergenic PPT2-EGFL8 AU 0.0746805 0.2192 0.0953 0.2153 Uncertain 6_32151222_G->A 6 32151222 32151222 G A snp 1428.77 0/1 99 134 75 59 0.44 intergenic PPT2-EGFL8 AU 0.14996 0.1389 0.2370 0.1318 Uncertain 6_32151443_C->T 6 32151443 32151443 C T snp 2734.77 0/1 99 225 107 118 0.52 intergenic PPT2-EGFL8 AU 0.072484 0.2192 0.034875 0.0534 0.2022 0.01 T 1.000 P -1.150 T 1.0 D 1.0 D ID=CM994186;DIS=Microangiopathy in type 2 diabetes, association;TAG=DFP;PUB=10526746 DFP Uncertain 6_32151994_A->T 6 32151994 32151994 A T snp 1599.77 1/1 99 58 0 58 1.0 intergenic PPT2-EGFL8 AU 0.964257 0.9921 0.903673 0.9181 0.9975 Uncertain 6_32164869_G->C 6 32164869 32164869 G C snp 740.77 0/1 99 83 53 30 0.36 intergenic PPT2-EGFL8 AU 0.230232 0.1677 0.252311 0.3066 0.1453 Uncertain 6_32164874_C->A 6 32164874 32164874 C A snp 601.77 0/1 99 77 50 27 0.35 intergenic PPT2-EGFL8 AU 0.208067 0.1667 0.223697 0.2839 0.1448 Uncertain 6_32170433_C->T 6 32170433 32170433 C T snp 40.77 0/1 69 5 3 2 0.4 intergenic PPT2-EGFL8 AU 0.442891 0.38 Uncertain 6_32171683_T->C 6 32171683 32171683 T C snp 1239.77 0/1 99 97 44 53 0.55 intergenic PPT2-EGFL8 AU 0.457069 0.4286 0.438918 0.5585 0.4404 Uncertain 6_32172065_T->G 6 32172065 32172065 T G snp 3519.77 1/1 99 127 1 126 0.99 intergenic PPT2-EGFL8 AU 0.963259 0.9921 0.903367 0.9165 0.9975 Uncertain 6_32178773_T->C 6 32178773 32178773 T C snp 349.77 0/1 99 35 21 14 0.4 intergenic PPT2-EGFL8 AU 0.457867 0.4286 Uncertain 6_32180146_A->G 6 32180146 32180146 A G snp 820.77 1/1 60 25 0 25 1.0 intergenic PPT2-EGFL8 AU 0.96246 0.9921 Uncertain 6_32183175_G->A 6 32183175 32183175 G A snp 397.77 0/1 99 34 17 17 0.5 intergenic PPT2-EGFL8 AU 0.277556 0.1964 0.327643 0.4138 0.2173 Uncertain 6_32184705_G->A 6 32184705 32184705 G A snp 2621.77 0/1 99 235 123 112 0.48 intergenic PPT2-EGFL8 AU 0.824481 0.9137 0.769668 0.7723 0.8970 Uncertain 6_32185923_AG->- 6 32185923 32185924 AG - indel 605.73 0/1 99 26 13 13 0.5 intergenic PPT2-EGFL8 AU 0.342452 0.2153 0.399216 0.4318 0.2231 Uncertain 6_32187605_A->G 6 32187605 32187605 A G snp 152.77 0/1 99 15 9 6 0.4 intergenic PPT2-EGFL8 AU 0.577875 0.7083 0.538544 0.5762 0.6813 Uncertain 6_32187836_-->CC 6 32187836 32187836 - CC indel 229.73 0/1 75 8 2 6 0.75 intergenic PPT2-EGFL8 AU 0.26258 0.1845 Uncertain 6_32188099_C->T 6 32188099 32188099 C T snp 2206.77 0/1 99 171 79 92 0.54 intergenic PPT2-EGFL8 AU 0.182708 0.1339 0.217746 0.2511 0.1012 Uncertain 6_32188297_G->C 6 32188297 32188297 G C snp 1259.77 0/1 99 119 64 55 0.46 intergenic PPT2-EGFL8 AU 0.320288 0.2976 0.3189 0.2017 Uncertain 6_32188383_T->C 6 32188383 32188383 T C snp 744.77 0/1 99 77 43 34 0.44 intergenic PPT2-EGFL8 AU 0.343051 0.2212 0.400237 0.4035 0.1732 0.19 T 1.000 P -0.758 T 0.0 T 0.009 T ID=CM133099;DIS=Multiple sclerosis, protection, association with;TAG=DP;PUB=23549433 DP Uncertain 6_32188603_C->T 6 32188603 32188603 C T snp 1752.77 0/1 99 195 119 76 0.39 intergenic PPT2-EGFL8 AU 0.267772 0.1935 0.284100 0.3060 0.1404 Uncertain 6_32188640_T->C 6 32188640 32188640 T C snp 1680.77 0/1 99 182 115 67 0.37 intergenic PPT2-EGFL8 AU 0.267772 0.1935 0.282869 0.3058 0.1401 0.35 T 1.0 P -0.793 T 0.001 T 0.02 T Uncertain 6_32188642_T->C 6 32188642 32188642 T C snp 1699.77 0/1 99 181 113 68 0.38 intergenic PPT2-EGFL8 AU 0.280152 0.2421 0.283408 0.3109 0.2002 Uncertain 6_32189032_T->C 6 32189032 32189032 T C snp 2874.77 0/1 99 236 114 122 0.52 intergenic PPT2-EGFL8 AU 0.279952 0.2421 0.283479 0.3113 0.1991 Uncertain 6_32190620_T->C 6 32190620 32190620 T C snp 1918.77 1/1 99 62 0 62 1.0 intergenic PPT2-EGFL8 AU 0.454273 0.5952 0.357044 0.3557 0.5464 Uncertain 6_32191581_T->A 6 32191581 32191581 T A snp 673.77 0/1 99 66 34 32 0.48 intergenic PPT2-EGFL8 AU 0.298123 0.3611 0.264213 Uncertain 6_32191620_C->T 6 32191620 32191620 C T snp 860.77 0/1 99 81 43 38 0.47 intergenic PPT2-EGFL8 AU 0.258187 0.2748 0.244668 0.2534 0.3116 Uncertain 6_32191659_AGC->- 6 32191659 32191661 AGC - indel 2894.73 1/1 99 80 0 80 1.0 intergenic PPT2-EGFL8 AU 0.47524 0.4921 0.3074 0.3530 ID=COSM451259;OCCURENCE=2(skin),1(breast),1(large_intestine),3(endometrium) Uncertain 6_32191730_G->A 6 32191730 32191730 G A snp 527.77 0/1 99 42 20 22 0.52 intergenic PPT2-EGFL8 AU 0.428714 0.3512 0.393289 0.3776 0.3557 Uncertain 6_32230354_A->G 6 32230354 32230354 A G snp 52.74 1/1 6 2 0 2 1.0 intergenic PPT2-EGFL8 AU 0.689297 0.7569 0.8068 0.8333 Uncertain 6_32284423_A->T 6 32284423 32284423 A T snp 44.77 0/1 31 3 1 2 0.67 intronic C6orf10 AU NM_001286475 exon5 c.23434+232A>T 0.327077 0.3611 Uncertain 6_32288041_T->C 6 32288041 32288041 T C snp 2248.77 0/1 99 193 90 103 0.53 intronic C6orf10 AU NM_006781 exon5 c.29505-2221T>C 0.327077 0.3611 Uncertain 6_32288089_C->T 6 32288089 32288089 C T snp 1261.77 0/1 99 88 42 46 0.52 intronic C6orf10 AU NM_006781 exon5 c.29505-2173C>T 0.886581 0.8909 Uncertain 6_32290927_G->T 6 32290927 32290927 G T snp 926.77 0/1 99 120 74 46 0.38 intronic C6orf10 AU NM_006781 exon6 c.30157+13G>T 0.729233 0.7748 0.681161 0.7202 0.7561 Uncertain 6_32290954_A->G 6 32290954 32290954 A G snp 1030.77 0/1 99 121 71 50 0.41 intronic C6orf10 AU NM_006781 exon6 c.30157+40A>G 0.327077 0.3611 0.315004 0.4132 0.3785 Uncertain 6_32291271_AG->- 6 32291271 32291272 AG - indel 1774.73 0/1 99 70 29 41 0.59 intronic C6orf10 AU NM_006781 exon7 c.30610-96_30610-95delAG 0.327077 0.3611 0.5138 0.4956 Uncertain 6_32291359_T->G 6 32291359 32291359 T G snp 1488.77 0/1 99 113 54 59 0.52 intronic C6orf10 AU NM_006781 exon7 c.30610-8T>G 0.729233 0.7748 0.681161 0.7243 0.7605 Uncertain 6_32291407_G->C 6 32291407 32291407 G C snp 1353.77 0/1 99 113 52 61 0.54 intronic C6orf10 AU NM_006781 exon7 c.30634+16G>C 0.0609026 0.1032 0.030450 0.0252 0.0915 Uncertain 6_32291542_C->T 6 32291542 32291542 C T snp 811.77 0/1 99 44 19 25 0.57 intronic C6orf10 AU NM_006781 exon7 c.30634+151C>T 0.729233 0.7748 Uncertain 6_32291837_G->T 6 32291837 32291837 G T snp 206.77 0/1 99 23 14 9 0.39 intronic C6orf10 AU NM_006781 exon7 c.30634+446G>T 0.327676 0.3621 Uncertain 6_32292084_C->T 6 32292084 32292084 C T snp 44.78 0/1 27 3 1 2 0.67 intronic C6orf10 AU NM_006781 exon7 c.30634+693C>T 0.33766 0.3819 Uncertain 6_32292392_-->AACT 6 32292392 32292392 - AACT indel 2996.73 0/1 99 107 61 46 0.43 intronic rs535330355 C6orf10 AU NM_006781 exon7 c.30634+1001insAACT 0.708067 0.746 0.7424 0.7694 Uncertain 6_32298372_A->G 6 32298372 32298372 A G snp 185.77 0/1 99 34 26 8 0.24 exonic C6orf10 AU nonsynonymous SNV NM_001286474 exon17 c.T460C p.S154P 0.327077 0.3601 0.318128 0.4170 0.3806 0.98 T 0.0 P -0.913 T Pathogenic 6_32299592_G->A 6 32299592 32299592 G A snp 86.77 0/1 30 4 1 3 0.75 intronic C6orf10 AU NM_006781 exon9 c.39053-218G>A 0.451078 0.4306 Uncertain 6_32299715_G->A 6 32299715 32299715 G A snp 786.77 0/1 99 77 39 38 0.49 intronic C6orf10 AU NM_006781 exon9 c.39053-95G>A 0.327077 0.3601 Uncertain 6_32299873_G->T 6 32299873 32299873 G T snp 668.77 0/1 99 90 59 31 0.34 intronic C6orf10 AU NM_006781 exon9 c.39074+42G>T 0.327077 0.3601 0.318128 0.4142 0.3770 Uncertain 6_32299908_G->C 6 32299908 32299908 G C snp 1258.77 0/1 99 80 28 52 0.65 intronic C6orf10 AU NM_006781 exon9 c.39074+77G>C 0.180711 0.2976 Uncertain 6_32301804_G->C 6 32301804 32301804 G C snp 461.77 0/1 99 59 38 21 0.36 intronic C6orf10 AU NM_006781 exon10 c.42456-1409G>C 0.327077 0.3601 0.4553 0.3896 Uncertain 6_32301960_A->C 6 32301960 32301960 A C snp 46.77 0/1 33 3 1 2 0.67 intronic C6orf10 AU NM_006781 exon10 c.42456-1253A>C 0.180711 0.2976 Uncertain 6_32303068_G->A 6 32303068 32303068 G A snp 85.77 0/1 74 9 5 4 0.44 intronic C6orf10 AU NM_006781 exon10 c.42456-145G>A 0.327077 0.3601 Uncertain 6_32303236_-->A 6 32303236 32303236 - A indel 86.73 0/1 61 11 3 8 0.73 splicing C6orf10 AU NM_006781 exon10 c.42477+2insA 0.177117 0.2788 0.1903 0.2871 Pathogenic 6_32303511_G->A 6 32303511 32303511 G A snp 65.77 0/1 94 15 11 4 0.27 intronic C6orf10 AU NM_006781 exon11 c.42931-177G>A 0.33766 0.381 Uncertain 6_32303672_T->A 6 32303672 32303672 T A snp 1123.77 0/1 99 111 57 54 0.49 intronic C6orf10 AU NM_006781 exon11 c.42931-16T>A 0.133187 0.2083 0.102607 0.1454 0.2080 Uncertain 6_32306658_AAAGA->- 6 32306658 32306662 AAAGA - indel 1079.73 0/1 99 31 16 15 0.48 intronic C6orf10 AU NM_006781 exon13 c.45998-97_45998-93delAAAGA 0.166534 0.2371 Uncertain 6_32306970_C->A 6 32306970 32306970 C A snp 991.77 1/1 72 29 0 29 1.0 intronic C6orf10 AU NM_006781 exon13 c.46019+194C>A 0.786142 0.8145 Uncertain 6_32307006_-->G 6 32307006 32307006 - G indel 337.74 1/1 27 10 0 10 1.0 intronic rs9281741 C6orf10 AU NM_006781 exon13 c.46019+230insG 0.786142 0.8145 Uncertain 6_32307260_T->G 6 32307260 32307260 T G snp 336.77 0/1 99 23 8 15 0.65 intronic C6orf10 AU NM_006781 exon14 c.46619-116T>G 0.337061 0.381 0.4259 0.3966 Uncertain 6_32307382_G->A 6 32307382 32307382 G A snp 482.77 0/1 99 47 25 22 0.47 exonic C6orf10 AU nonsynonymous SNV NM_001286474 exon11 c.C335T p.P112L 0.326877 0.3601 0.317062 0.4128 0.3778 0.1 T 0.0 P -0.921 T 0.662 T 0.204 P Pathogenic 6_32307446_T->C 6 32307446 32307446 T C snp 752.77 1/1 54 28 0 28 1.0 intronic C6orf10 AU NM_006781 exon14 c.46658+31T>C 0.785942 0.8135 0.745791 0.8019 0.7921 Uncertain 6_32310803_G->A 6 32310803 32310803 G A snp 255.77 0/1 99 18 9 9 0.5 intronic C6orf10 AU NM_001286475 exon16 c.50257-211G>A 0.326677 0.3601 Uncertain 6_32310811_A->C 6 32310811 32310811 A C snp 286.77 0/1 99 20 11 9 0.45 intronic C6orf10 AU NM_001286475 exon16 c.50257-203A>C 0.448682 0.4325 Uncertain 6_32310967_C->T 6 32310967 32310967 C T snp 1046.77 0/1 99 90 48 42 0.47 intronic C6orf10 AU NM_001286475 exon16 c.50257-47C>T 0.326677 0.3601 0.3818 0.3714 Uncertain 6_32310986_C->G 6 32310986 32310986 C G snp 962.77 0/1 99 86 43 43 0.5 intronic C6orf10 AU NM_001286475 exon16 c.50257-28C>G 0.326677 0.3601 0.4363 0.3762 Uncertain 6_32311148_C->G 6 32311148 32311148 C G snp 80.77 0/1 99 6 3 3 0.5 intronic C6orf10 AU NM_001286475 exon16 c.50278+113C>G 0.326677 0.3601 Uncertain 6_32317467_T->C 6 32317467 32317467 T C snp 995.77 0/1 99 71 33 38 0.54 intronic C6orf10 AU NM_006781 exon15 c.56759-49T>C 0.448682 0.4325 0.424763 0.3840 0.4024 Uncertain 6_32317471_A->C 6 32317471 32317471 A C snp 922.77 0/1 99 73 37 36 0.49 intronic C6orf10 AU NM_006781 exon15 c.56759-45A>C 0.326278 0.3601 0.317773 0.4156 0.3809 Uncertain 6_32317635_G->A 6 32317635 32317635 G A snp 1757.77 0/1 99 167 95 72 0.43 intronic C6orf10 AU NM_006781 exon15 c.56849+29G>A 0.448682 0.4325 0.424645 0.3821 0.3991 Uncertain 6_32317859_T->C 6 32317859 32317859 T C snp 1362.77 0/1 99 174 110 64 0.37 intronic C6orf10 AU NM_006781 exon15 c.56849+253T>C 0.448682 0.4325 0.3886 0.4470 0.42 T 0.0 P -1.004 T Uncertain 6_32317923_TTTC->- 6 32317923 32317926 TTTC - indel 4263.73 0/1 99 145 64 81 0.56 intronic C6orf10 AU NM_006781 exon15 c.56849+317_56849+320delTTTC 0.326478 0.3601 0.4464 0.3559 Uncertain 6_32317973_A->G 6 32317973 32317973 A G snp 1317.77 0/1 99 104 52 52 0.5 intronic C6orf10 AU NM_006781 exon15 c.56849+367A>G 0.448682 0.4325 0.3808 0.4238 Uncertain 6_32318036_A->G 6 32318036 32318036 A G snp 628.77 0/1 99 43 22 21 0.49 intronic C6orf10 AU NM_006781 exon15 c.56849+430A>G 0.320687 0.3562 Uncertain 6_32323529_A->G 6 32323529 32323529 A G snp 594.77 0/1 99 45 20 25 0.56 intronic C6orf10 AU NM_006781 exon17 c.62689+83A>G 0.495407 0.4544 0.545475 Uncertain 6_32324520_T->C 6 32324520 32324520 T C snp 645.77 1/1 48 22 0 22 1.0 intronic C6orf10 AU NM_006781 exon17 c.62689+1074T>C 0.803315 0.872 Uncertain 6_32324544_A->G 6 32324544 32324544 A G snp 327.77 0/1 99 31 19 12 0.39 intronic C6orf10 AU NM_006781 exon17 c.62689+1098A>G 0.347244 0.4157 Uncertain 6_32324641_A->G 6 32324641 32324641 A G snp 386.77 0/1 99 29 11 18 0.62 intronic C6orf10 AU NM_006781 exon17 c.62689+1195A>G 0.347244 0.4157 Uncertain 6_32331927_C->G 6 32331927 32331927 C G snp 129.03 1/1 12 4 0 4 1.0 intronic C6orf10 AU NM_006781 exon18 c.73186-2016C>G 0.326478 0.3601 Uncertain 6_32331991_A->T 6 32331991 32331991 A T snp 178.77 0/1 99 19 11 8 0.42 intronic C6orf10 AU NM_006781 exon18 c.73186-1952A>T 0.0752796 0.0972 Uncertain 6_32331998_G->A 6 32331998 32331998 G A snp 221.77 0/1 99 21 12 9 0.43 intronic C6orf10 AU NM_006781 exon18 c.73186-1945G>A 0.347644 0.4167 Uncertain 6_32332920_C->T 6 32332920 32332920 C T snp 234.77 0/1 57 10 2 8 0.8 intronic C6orf10 AU NM_006781 exon18 c.73186-1023C>T 0.347244 0.4157 Uncertain 6_32332996_C->G 6 32332996 32332996 C G snp 691.77 0/1 99 59 34 25 0.42 intronic C6orf10 AU NM_006781 exon18 c.73186-947C>G 0.326478 0.3601 Uncertain 6_32333093_A->G 6 32333093 32333093 A G snp 1945.77 0/1 99 202 110 92 0.46 intronic C6orf10 AU NM_006781 exon18 c.73186-850A>G 0.45607 0.4563 0.5671 0.4406 Uncertain 6_32333098_C->T 6 32333098 32333098 C T snp 2091.77 0/1 99 209 115 94 0.45 intronic C6orf10 AU NM_006781 exon18 c.73186-845C>T 0.45607 0.4563 0.5681 0.4519 Uncertain 6_32333195_A->G 6 32333195 32333195 A G snp 1799.77 0/1 99 171 95 76 0.44 intronic C6orf10 AU NM_006781 exon18 c.73186-748A>G 0.45607 0.4563 0.5665 0.4505 Uncertain 6_32333243_G->A 6 32333243 32333243 G A snp 1539.77 0/1 99 111 50 61 0.55 intronic C6orf10 AU NM_006781 exon18 c.73186-700G>A 0.347244 0.4157 Uncertain 6_32333410_A->C 6 32333410 32333410 A C snp 588.77 0/1 99 49 23 26 0.53 intronic C6orf10 AU NM_006781 exon18 c.73186-533A>C 0.326677 0.3611 Uncertain 6_32333425_C->T 6 32333425 32333425 C T snp 479.77 0/1 99 45 24 21 0.47 intronic C6orf10 AU NM_006781 exon18 c.73186-518C>T 0.347244 0.4157 Uncertain 6_32333439_G->T 6 32333439 32333439 G T snp 374.77 0/1 99 40 21 19 0.47 intronic C6orf10 AU NM_006781 exon18 c.73186-504G>T 0.347244 0.4157 Uncertain 6_32333542_A->G 6 32333542 32333542 A G snp 106.8 0/1 21 5 1 4 0.8 intronic C6orf10 AU NM_006781 exon18 c.73186-401A>G 0.347244 0.4157 Uncertain 6_32333650_G->C 6 32333650 32333650 G C snp 263.77 0/1 99 30 16 14 0.47 intronic C6orf10 AU NM_006781 exon18 c.73186-293G>C 0.0752796 0.0972 Uncertain 6_32333837_-->TTC 6 32333837 32333837 - TTC indel 2190.73 1/1 99 52 0 52 1.0 intronic C6orf10 AU NM_006781 exon18 c.73186-106insTTC 0.802516 0.872 0.8279 0.8884 Uncertain 6_32333955_T->C 6 32333955 32333955 T C snp 258.77 0/1 99 29 15 14 0.48 exonic C6orf10 AU nonsynonymous SNV NM_001286474 exon6 c.A206G p.Y69C 0.326677 0.3601 0.314947 0.4204 0.3827 0.14 T 0.000 P -0.917 T 0.524 P 0.146 P Pathogenic 6_32334224_C->G 6 32334224 32334224 C G snp 188.77 0/1 99 10 4 6 0.6 intronic C6orf10 AU NM_006781 exon19 c.73322+145C>G 0.326478 0.3601 0.4631 0.4411 Uncertain 6_32334241_G->T 6 32334241 32334241 G T snp 243.8 1/1 21 7 0 7 1.0 intronic C6orf10 AU NM_006781 exon19 c.73322+162G>T 0.803315 0.872 0.8338 0.8864 Uncertain 6_32334258_G->T 6 32334258 32334258 G T snp 120.77 0/1 58 6 2 4 0.67 intronic C6orf10 AU NM_006781 exon19 c.73322+179G>T 0.326478 0.3601 Uncertain 6_32335516_C->T 6 32335516 32335516 C T snp 96.28 1/1 9 3 0 3 1.0 intronic C6orf10 AU NM_006781 exon20 c.74944-185C>T 0.803315 0.872 Uncertain 6_32335558_-->AGAG 6 32335558 32335558 - AGAG indel 699.73 1/1 33 11 0 11 1.0 intronic C6orf10 AU NM_006781 exon20 c.74944-143insAGAG 0.802915 0.871 Uncertain 6_32335628_A->T 6 32335628 32335628 A T snp 1354.77 0/1 99 70 16 54 0.77 intronic C6orf10 AU NM_006781 exon20 c.74944-73A>T 0.347244 0.4157 Uncertain 6_32335778_A->- 6 32335778 32335778 A - indel 2275.73 1/1 99 63 0 63 1.0 intronic C6orf10 AU NM_006781 exon20 c.74977+44delA 0.803315 0.872 0.745106 0.8127 0.8597 Uncertain 6_32336495_T->A 6 32336495 32336495 T A snp 372.77 1/1 30 10 0 10 1.0 intronic C6orf10 AU NM_006781 exon21 c.75801-63T>A 0.861222 0.9038 Uncertain 6_32336517_A->G 6 32336517 32336517 A G snp 546.77 0/1 31 21 2 19 0.9 intronic C6orf10 AU NM_006781 exon21 c.75801-41A>G 0.347244 0.4157 0.3340 0.4696 Uncertain 6_32336586_A->G 6 32336586 32336586 A G snp 409.77 0/1 99 64 46 18 0.28 exonic C6orf10 AU nonsynonymous SNV NM_001286474 exon3 c.T106C p.Y36H 0.326478 0.3601 0.318311 0.4146 0.3772 0.3 T 0.0 P -0.911 T 0.047 T 0.017 T Pathogenic 6_32337630_G->A 6 32337630 32337630 G A snp 2202.77 0/1 99 218 122 96 0.44 intronic C6orf10 AU NM_006781 exon22 c.76916-43G>A 0.503195 0.6121 0.486608 0.5870 0.6165 Uncertain 6_32337686_A->G 6 32337686 32337686 A G snp 6772.77 1/1 99 249 0 249 1.0 exonic C6orf10 AU nonsynonymous SNV NM_001286474 exon2 c.T88C p.C30R 0.803315 0.872 0.745793 0.8125 0.8603 1 T 0.0 P -0.953 T 0.0 T 0.0 T Pathogenic 6_32337854_-->T 6 32337854 32337854 - T indel 1222.73 1/1 99 50 0 50 1.0 intronic C6orf10 AU NM_006781 exon22 c.77003+94insT 0.797724 0.8522 Uncertain 6_32338289_G->A 6 32338289 32338289 G A snp 204.77 0/1 99 19 7 12 0.63 intronic C6orf10 AU NM_006781 exon22 c.77003+529G>A 0.0543131 0.0893 Uncertain 6_32338326_C->T 6 32338326 32338326 C T snp 159.77 0/1 99 22 13 9 0.41 intronic C6orf10 AU NM_006781 exon22 c.77003+566C>T 0.0541134 0.0427 Uncertain 6_32338386_G->C 6 32338386 32338386 G C snp 110.77 0/1 99 15 9 6 0.4 intronic C6orf10 AU NM_006781 exon22 c.77003+626G>C 0.32528 0.3542 Uncertain 6_32338400_C->T 6 32338400 32338400 C T snp 359.78 1/1 27 12 0 12 1.0 intronic C6orf10 AU NM_006781 exon22 c.77003+640C>T 0.801917 0.8661 Uncertain 6_32339348_C->T 6 32339348 32339348 C T snp 335.77 0/1 99 20 10 10 0.5 intronic C6orf10 AU NM_006781 exon23 c.78713-122C>T 0.63738 0.6825 Uncertain 6_32339647_T->C 6 32339647 32339647 T C snp 1124.77 0/1 99 82 38 44 0.54 UTR5 C6orf10 AU 0.226238 0.3581 Uncertain 6_32362416_T->G 6 32362416 32362416 T G snp 416.77 0/1 99 54 36 18 0.33 intergenic C6orf10 AU 0.814297 0.8224 Uncertain 6_32407709_C->A 6 32407709 32407709 C A snp 1507.77 1/1 99 53 0 53 1.0 intergenic C6orf10 AU 0.409345 0.4534 0.379517 0.4365 0.5014 Uncertain 6_32410137_T->C 6 32410137 32410137 T C snp 2227.77 1/1 99 70 1 69 0.99 intergenic C6orf10 AU 0.747404 0.7986 Uncertain 6_32410576_T->C 6 32410576 32410576 T C snp 797.77 1/1 60 21 0 21 1.0 intergenic C6orf10 AU 0.747005 0.7986 Uncertain 6_32410716_G->A 6 32410716 32410716 G A snp 2786.77 1/1 99 101 0 101 1.0 intergenic C6orf10 AU 0.538938 0.6349 Uncertain 6_32410941_T->C 6 32410941 32410941 T C snp 3178.77 1/1 99 111 0 111 1.0 intergenic C6orf10 AU 0.627196 0.6756 0.570294 0.6100 0.7124 Uncertain 6_32410987_A->G 6 32410987 32410987 A G snp 3428.77 1/1 99 120 0 120 1.0 intergenic C6orf10 AU 0.953674 0.994 0.891114 0.9133 0.9977 Uncertain 6_32411035_A->C 6 32411035 32411035 A C snp 4141.77 1/1 99 134 0 134 1.0 intergenic C6orf10 AU 0.627196 0.6756 0.570142 0.6096 0.7136 1.000 P Uncertain 6_32411523_T->C 6 32411523 32411523 T C snp 4315.77 1/1 99 165 0 165 1.0 intergenic C6orf10 AU 0.538738 0.6349 0.473453 0.5097 0.6769 Uncertain 6_32411646_T->G 6 32411646 32411646 T G snp 2773.77 1/1 99 91 0 91 1.0 intergenic C6orf10 AU 0.659545 0.6865 0.597630 0.6372 0.7181 0.21 T 0.0 P -0.923 T 0.0 T 0.0 T Uncertain 6_32411726_G->A 6 32411726 32411726 G A snp 892.77 1/1 66 24 0 24 1.0 intergenic C6orf10 AU 0.869209 0.9554 0.796468 0.8258 0.9679 Uncertain 6_32412571_A->T 6 32412571 32412571 A T snp 431.77 1/1 33 12 0 12 1.0 intergenic C6orf10 AU 0.778754 0.8065 Uncertain 6_32412580_T->C 6 32412580 32412580 T C snp 550.77 1/1 42 16 0 16 1.0 intergenic C6orf10 AU 0.882788 0.9732 Uncertain 6_32427572_C->G 6 32427572 32427572 C G snp 3165.77 1/1 99 103 0 103 1.0 intergenic C6orf10 AU 0.253794 0.3829 0.193059 0.2389 0.4128 Uncertain 6_32427748_C->T 6 32427748 32427748 C T snp 7264.77 1/1 99 250 1 249 1.0 intergenic C6orf10 AU 0.515775 0.5188 0.498256 0.5319 0.5748 Uncertain 6_32427789_T->C 6 32427789 32427789 T C snp 7225.77 1/1 99 249 1 248 1.0 intergenic C6orf10 AU 0.603435 0.5407 0.590164 0.6085 0.5878 Uncertain 6_32485311_C->G 6 32485311 32485311 C G snp 30.74 1/1 6 3 0 3 1.0 UTR3 HLA-DRB5 AU Uncertain 6_32485342_G->A 6 32485342 32485342 G A snp 224.8 1/1 21 8 0 8 1.0 UTR3 rs185406567 HLA-DRB5 AU Uncertain 6_32485347_G->T 6 32485347 32485347 G T snp 200.84 1/1 18 8 0 8 1.0 UTR3 rs3208420 HLA-DRB5 AU Uncertain 6_32485357_A->C 6 32485357 32485357 A C snp 271.78 1/1 24 12 0 12 1.0 UTR3 rs374036066 HLA-DRB5 AU Uncertain 6_32485365_A->G 6 32485365 32485365 A G snp 300.78 1/1 27 13 0 13 1.0 UTR3 HLA-DRB5 AU Uncertain 6_32485368_A->G 6 32485368 32485368 A G snp 260.78 1/1 24 13 0 13 1.0 UTR3 rs532756519 HLA-DRB5 AU 0.105631 0.0774 Uncertain 6_32485369_T->A 6 32485369 32485369 T A snp 294.78 1/1 27 13 0 13 1.0 UTR3 rs541705108 HLA-DRB5 AU 0.105631 0.0774 Uncertain 6_32485397_G->A 6 32485397 32485397 G A snp 672.77 1/1 51 30 0 30 1.0 UTR3 rs112749594 HLA-DRB5 AU 0.666733 0.6131 Uncertain 6_32485410_G->T 6 32485410 32485410 G T snp 862.77 1/1 66 39 0 39 1.0 UTR3 rs151002802 HLA-DRB5 AU 0.04373 0.0308 Uncertain 6_32485413_T->G 6 32485413 32485413 T G snp 843.78 1/1 24 39 2 37 0.95 UTR3 HLA-DRB5 AU Uncertain 6_32485421_T->G 6 32485421 32485421 T G snp 877.77 1/1 66 39 0 39 1.0 UTR3 HLA-DRB5 AU Uncertain 6_32485422_C->T 6 32485422 32485422 C T snp 902.77 1/1 30 41 2 39 0.95 UTR3 HLA-DRB5 AU Uncertain 6_32485440_A->G 6 32485440 32485440 A G snp 1154.77 0/1 99 63 7 56 0.89 UTR3 HLA-DRB5 AU Uncertain 6_32485451_A->G 6 32485451 32485451 A G snp 1634.77 1/1 99 66 0 66 1.0 UTR3 rs139189937 HLA-DRB5 AU 0.0642971 0.0456 Uncertain 6_32485453_G->A 6 32485453 32485453 G A snp 219.77 0/1 99 66 57 9 0.14 UTR3 HLA-DRB5 AU Uncertain 6_32485454_A->G 6 32485454 32485454 A G snp 1114.77 0/1 99 69 15 54 0.78 UTR3 HLA-DRB5 AU Uncertain 6_32485458_C->T 6 32485458 32485458 C T snp 1090.77 0/1 99 71 17 54 0.76 UTR3 HLA-DRB5 AU Uncertain 6_32485459_T->G 6 32485459 32485459 T G snp 1048.77 0/1 99 71 17 54 0.76 UTR3 HLA-DRB5 AU Uncertain 6_32485464_A->C 6 32485464 32485464 A C snp 398.77 0/1 99 86 70 16 0.19 UTR3 rs200737137 HLA-DRB5 AU Uncertain 6_32485467_A->C 6 32485467 32485467 A C snp 1998.77 1/1 99 86 0 86 1.0 UTR3 rs113473719 HLA-DRB5 AU 0.157748 0.0784 0.0006 0 Uncertain 6_32485482_A->G 6 32485482 32485482 A G snp 1286.77 0/1 99 94 25 69 0.73 UTR3 rs199712890 HLA-DRB5 AU Uncertain 6_32485487_G->T 6 32485487 32485487 G T snp 469.77 0/1 99 93 71 22 0.24 UTR3 rs113453723 HLA-DRB5 AU Uncertain 6_32485490_C->T 6 32485490 32485490 C T snp 1186.77 0/1 99 88 26 62 0.7 UTR3 rs201334635 HLA-DRB5 AU 2.9e-05 0 Uncertain 6_32485491_C->T 6 32485491 32485491 C T snp 1196.77 0/1 99 88 26 62 0.7 UTR3 rs1141867 HLA-DRB5 AU 0.476238 0.4087 0.226963 0.0061 0.0034 Uncertain 6_32485492_C->T 6 32485492 32485492 C T snp 2103.77 1/1 99 89 0 89 1.0 UTR3 rs75563047 HLA-DRB5 AU 0.341853 0.2907 0.0090 0.0034 Uncertain 6_32485511_G->T 6 32485511 32485511 G T snp 2178.77 1/1 99 97 0 97 1.0 UTR3 rs78287329 HLA-DRB5 AU 0.15655 0.1736 0.0034 0 Uncertain 6_32485520_C->T 6 32485520 32485520 C T snp 437.77 0/1 99 97 72 25 0.26 exonic rs199925298 HLA-DRB5 AU nonsynonymous SNV NM_002125 exon6 c.G797A p.S266N 0.07 T 1.000 N -0.794 T 0.995 D 0.985 D Pathogenic 6_32485524_C->G 6 32485524 32485524 C G snp 2008.77 1/1 99 91 0 91 1.0 exonic rs77867566 HLA-DRB5 AU nonsynonymous SNV NM_002125 exon6 c.G793C p.V265L 0.0225639 0.0139 0.0021 0 1 T 1.000 N -0.983 T 0.0 T 0.002 T Pathogenic 6_32485527_G->A 6 32485527 32485527 G A snp 1160.77 0/1 99 92 28 64 0.7 exonic rs530406946 HLA-DRB5 AU nonsynonymous SNV NM_002125 exon6 c.C790T p.L264F 0.00539137 0.003 0.0004 0 0.3 T 0.987 N -0.954 T 0.001 T 0.004 T ID=COSM3366461;OCCURENCE=1(kidney) Pathogenic 6_32485535_-->A 6 32485535 32485535 - A indel 841.73 0/1 99 80 51 29 0.36 splicing HLA-DRB5 AU NM_002125 exon1 c.14+6insA Pathogenic 6_32485539_G->C 6 32485539 32485539 G C snp 2058.77 1/1 99 85 0 85 1.0 intronic rs112839628 HLA-DRB5 AU NM_002125 exon1 c.14+10G>C 0.279553 0.254 0.0017 0.0008 Uncertain 6_32485541_G->C 6 32485541 32485541 G C snp 482.77 0/1 99 87 61 26 0.3 intronic rs201239487 HLA-DRB5 AU NM_002125 exon1 c.14+12G>C 0.0002 0 Uncertain 6_32485543_G->A 6 32485543 32485543 G A snp 1169.77 0/1 99 87 32 55 0.63 intronic rs143960829 HLA-DRB5 AU NM_002125 exon1 c.14+14G>A 0.0002 0 Uncertain 6_32485546_A->G 6 32485546 32485546 A G snp 565.77 0/1 99 88 55 33 0.38 intronic rs144404707 HLA-DRB5 AU NM_002125 exon1 c.14+17A>G 0.0002 0 Uncertain 6_32485563_C->A 6 32485563 32485563 C A snp 496.77 0/1 99 81 52 29 0.36 intronic HLA-DRB5 AU NM_002125 exon1 c.14+34C>A Uncertain 6_32485567_T->C 6 32485567 32485567 T C snp 2004.77 1/1 99 81 0 81 1.0 intronic rs112641502 HLA-DRB5 AU NM_002125 exon1 c.14+38T>C 0.116014 0.125 0 0 Uncertain 6_32485570_C->T 6 32485570 32485570 C T snp 584.77 0/1 99 80 45 35 0.44 intronic rs112538495 HLA-DRB5 AU NM_002125 exon1 c.14+41C>T 0.113818 0.125 0 0 Uncertain 6_32485579_C->T 6 32485579 32485579 C T snp 820.77 0/1 99 71 35 36 0.51 intronic rs115627609 HLA-DRB5 AU NM_002125 exon1 c.14+50C>T 0.210064 0.1468 Uncertain 6_32485582_C->A 6 32485582 32485582 C A snp 730.77 0/1 99 68 35 33 0.49 intronic HLA-DRB5 AU NM_002125 exon1 c.14+53C>A Uncertain 6_32485586_T->C 6 32485586 32485586 T C snp 504.77 0/1 99 63 38 25 0.4 intronic HLA-DRB5 AU NM_002125 exon1 c.14+57T>C Uncertain 6_32485587_C->G 6 32485587 32485587 C G snp 682.77 0/1 99 62 31 31 0.5 intronic HLA-DRB5 AU NM_002125 exon1 c.14+58C>G Uncertain 6_32485589_T->C 6 32485589 32485589 T C snp 1485.77 1/1 99 59 0 59 1.0 intronic rs112528767 HLA-DRB5 AU NM_002125 exon1 c.14+60T>C 0.407149 0.4365 Uncertain 6_32485598_A->G 6 32485598 32485598 A G snp 426.77 0/1 99 54 35 19 0.35 intronic rs72508426 HLA-DRB5 AU NM_002125 exon1 c.14+69A>G 0.214457 0.1478 Uncertain 6_32485599_G->A 6 32485599 32485599 G A snp 576.77 0/1 99 52 25 27 0.52 intronic HLA-DRB5 AU NM_002125 exon1 c.14+70G>A Uncertain 6_32485611_G->A 6 32485611 32485611 G A snp 231.77 0/1 99 32 24 8 0.25 intronic HLA-DRB5 AU NM_002125 exon1 c.14+82G>A Uncertain 6_32485616_C->G 6 32485616 32485616 C G snp 228.77 0/1 99 33 25 8 0.24 intronic HLA-DRB5 AU NM_002125 exon1 c.14+87C>G Uncertain 6_32485618_G->A 6 32485618 32485618 G A snp 237.77 0/1 99 32 24 8 0.25 intronic HLA-DRB5 AU NM_002125 exon1 c.14+89G>A Uncertain 6_32485640_C->G 6 32485640 32485640 C G snp 177.77 0/1 99 19 13 6 0.32 intronic HLA-DRB5 AU NM_002125 exon1 c.14+111C>G Uncertain 6_32485641_C->T 6 32485641 32485641 C T snp 267.77 0/1 99 19 6 13 0.68 intronic rs113313722 HLA-DRB5 AU NM_002125 exon1 c.14+112C>T 0.202476 0.2202 Uncertain 6_32485642_T->G 6 32485642 32485642 T G snp 185.77 0/1 99 18 11 7 0.39 intronic HLA-DRB5 AU NM_002125 exon1 c.14+113T>G Uncertain 6_32485651_C->A 6 32485651 32485651 C A snp 153.77 0/1 99 16 6 10 0.63 intronic rs113564685 HLA-DRB5 AU NM_002125 exon1 c.14+122C>A 0.197883 0.2163 Uncertain 6_32485655_A->G 6 32485655 32485655 A G snp 403.77 1/1 33 15 0 15 1.0 intronic rs199910997 HLA-DRB5 AU NM_002125 exon1 c.14+126A>G 0.479433 0.4643 Uncertain 6_32485656_C->T 6 32485656 32485656 C T snp 67.77 0/1 96 15 11 4 0.27 intronic HLA-DRB5 AU NM_002125 exon1 c.14+127C>T Uncertain 6_32485664_C->A 6 32485664 32485664 C A snp 178.77 0/1 99 12 6 6 0.5 intronic rs146202552 HLA-DRB5 AU NM_002125 exon1 c.14+135C>A Uncertain 6_32485676_A->T 6 32485676 32485676 A T snp 111.77 0/1 73 9 5 4 0.44 intronic HLA-DRB5 AU NM_002125 exon1 c.14+147A>T Uncertain 6_32486358_T->C 6 32486358 32486358 T C snp 44.74 1/1 6 3 0 3 1.0 exonic rs17850459 HLA-DRB5 AU synonymous SNV NM_002125 exon4 c.A738G p.L246L 0.660343 0.6062 3.002e-05 0 Uncertain 6_32486437_T->C 6 32486437 32486437 T C snp 1250.77 1/1 90 54 0 54 1.0 exonic rs1136905 HLA-DRB5 AU nonsynonymous SNV NM_002125 exon4 c.A659G p.Q220R 0.60643 0.6002 0.186291 0.0054 0.0053 1 T 0.0 P -0.848 T 0.0 T 0.0 T Pathogenic 6_32486438_G->A 6 32486438 32486438 G A snp 810.77 0/1 99 56 17 39 0.7 exonic rs201046358 HLA-DRB5 AU stopgain NM_002125 exon4 c.C658T p.Q220X 0.120607 0.1706 0.0005 0 0.01 T 1 A Pathogenic 6_32486447_G->A 6 32486447 32486447 G A snp 1378.77 1/1 99 64 0 64 1.0 splicing rs139672306 HLA-DRB5 AU NM_002125 exon3 c.928+4G>A 0.686302 0.624 0.0155 0.0056 Pathogenic 6_32486451_A->T 6 32486451 32486451 A T snp 893.77 0/1 99 73 23 50 0.68 intronic rs149802751 HLA-DRB5 AU NM_002125 exon3 c.928+8A>T 0.142372 0.0804 0.072537 0.0093 0 Uncertain 6_32486456_A->G 6 32486456 32486456 A G snp 1693.77 1/1 99 77 0 77 1.0 intronic rs113965088 HLA-DRB5 AU NM_002125 exon3 c.928+13A>G 0.796326 0.7758 0.3059 0.3243 Uncertain 6_32486477_C->T 6 32486477 32486477 C T snp 120.77 0/1 99 98 83 15 0.15 intronic rs555503640 HLA-DRB5 AU NM_002125 exon3 c.928+34C>T 0.388179 0.3145 0 0 Uncertain 6_32486478_C->T 6 32486478 32486478 C T snp 247.77 0/1 99 100 81 19 0.19 intronic HLA-DRB5 AU NM_002125 exon3 c.928+35C>T Uncertain 6_32486479_C->T 6 32486479 32486479 C T snp 253.77 0/1 99 101 81 20 0.2 intronic rs567147215 HLA-DRB5 AU NM_002125 exon3 c.928+36C>T 0.0623003 0.121 4.289e-05 0 Uncertain 6_32486484_T->G 6 32486484 32486484 T G snp 253.77 0/1 99 103 84 19 0.18 intronic rs115773472 HLA-DRB5 AU NM_002125 exon3 c.928+41T>G 0.197284 0.2659 0.0058 0.0069 ID=COSN144154;OCCURENCE=1(eye) Uncertain 6_32486491_T->C 6 32486491 32486491 T C snp 2197.77 1/1 99 102 0 102 1.0 intronic rs114548292 HLA-DRB5 AU NM_002125 exon3 c.928+48T>C 0.696086 0.6349 0.0026 0.0009 Uncertain 6_32486493_T->G 6 32486493 32486493 T G snp 1598.77 0/1 99 102 19 83 0.81 intronic rs115170898 HLA-DRB5 AU NM_002125 exon3 c.928+50T>G 0.124601 0.0893 0.0009 0 Uncertain 6_32486501_G->C 6 32486501 32486501 G C snp 250.77 0/1 99 103 84 19 0.18 intronic HLA-DRB5 AU NM_002125 exon3 c.928+58G>C Uncertain 6_32486503_C->T 6 32486503 32486503 C T snp 1128.77 0/1 99 94 37 57 0.61 intronic HLA-DRB5 AU NM_002125 exon3 c.928+60C>T Uncertain 6_32486504_C->A 6 32486504 32486504 C A snp 1164.77 0/1 99 94 37 57 0.61 intronic HLA-DRB5 AU NM_002125 exon3 c.928+61C>A Uncertain 6_32486508_CA->- 6 32486508 32486509 CA - indel 3609.73 1/1 99 77 0 77 1.0 intronic rs376005782 HLA-DRB5 AU NM_002125 exon3 c.928+65_928+66delCA Uncertain 6_32486511_T->G 6 32486511 32486511 T G snp 2118.77 1/1 99 96 1 95 0.99 intronic rs188122191 HLA-DRB5 AU NM_002125 exon3 c.928+68T>G 0.693291 0.6379 Uncertain 6_32486517_T->G 6 32486517 32486517 T G snp 2338.77 1/1 99 110 0 110 1.0 intronic rs116721417 HLA-DRB5 AU NM_002125 exon3 c.928+74T>G 0.694888 0.6379 Uncertain 6_32486524_G->C 6 32486524 32486524 G C snp 194.77 0/1 99 112 92 20 0.18 intronic rs145780769 HLA-DRB5 AU NM_002125 exon3 c.928+81G>C Uncertain 6_32486531_G->A 6 32486531 32486531 G A snp 225.77 0/1 99 108 90 18 0.17 intronic rs770637761 HLA-DRB5 AU NM_002125 exon3 c.928+88G>A Uncertain 6_32486533_G->A 6 32486533 32486533 G A snp 611.77 0/1 99 107 70 37 0.35 intronic rs113924159 HLA-DRB5 AU NM_002125 exon3 c.928+90G>A 0.170527 0.2629 Uncertain 6_32486545_T->C 6 32486545 32486545 T C snp 2254.77 1/1 99 100 0 100 1.0 intronic rs111501833 HLA-DRB5 AU NM_002125 exon3 c.928+102T>C 0.698482 0.6389 Uncertain 6_32486549_T->C 6 32486549 32486549 T C snp 1677.77 0/1 99 100 19 81 0.81 intronic rs113205696 HLA-DRB5 AU NM_002125 exon3 c.928+106T>C 0.671526 0.6022 Uncertain 6_32486576_G->T 6 32486576 32486576 G T snp 148.77 0/1 99 76 63 13 0.17 intronic rs145140566 HLA-DRB5 AU NM_002125 exon3 c.928+133G>T Uncertain 6_32486578_A->G 6 32486578 32486578 A G snp 1417.77 0/1 99 72 14 58 0.81 intronic rs371256168 HLA-DRB5 AU NM_002125 exon3 c.928+135A>G 0.00179712 0.002 Uncertain 6_32486580_AA->- 6 32486580 32486581 AA - indel 1927.73 ./1 99 67 1 66 0.99 intronic HLA-DRB5 AU NM_002125 exon3 c.928+137_928+138delAA Uncertain 6_32486580_A->- 6 32486580 32486580 A - indel 1927.73 ./1 99 67 1 66 0.99 intronic rs377341689 HLA-DRB5 AU NM_002125 exon3 c.928+137delA Uncertain 6_32486587_A->C 6 32486587 32486587 A C snp 221.77 0/1 99 67 51 16 0.24 intronic rs368557919 HLA-DRB5 AU NM_002125 exon3 c.928+144A>C Uncertain 6_32486596_A->G 6 32486596 32486596 A G snp 947.77 0/1 99 58 22 36 0.62 intronic rs112696151 HLA-DRB5 AU NM_002125 exon3 c.928+153A>G Uncertain 6_32486618_T->A 6 32486618 32486618 T A snp 707.77 ./1 99 21 0 21 1.0 intronic HLA-DRB5 AU NM_002125 exon3 c.928+175T>A Uncertain 6_32486618_T->G 6 32486618 32486618 T G snp 707.77 ./1 99 21 0 21 1.0 intronic rs113251427 HLA-DRB5 AU NM_002125 exon3 c.928+175T>G 0.508786 0.4524 Uncertain 6_32486620_T->C 6 32486620 32486620 T C snp 88.77 0/1 99 21 16 5 0.24 intronic HLA-DRB5 AU NM_002125 exon3 c.928+177T>C Uncertain 6_32486621_C->- 6 32486621 32486621 C - indel 310.73 0/1 99 20 9 11 0.55 intronic rs569239629 HLA-DRB5 AU NM_002125 exon3 c.928+178delC 0.0389377 0.003 Uncertain 6_32486625_G->C 6 32486625 32486625 G C snp 631.77 1/1 51 18 0 18 1.0 intronic rs142829465 HLA-DRB5 AU NM_002125 exon3 c.928+182G>C 0.697484 0.6429 Uncertain 6_32486626_A->C 6 32486626 32486626 A C snp 295.77 0/1 99 17 8 9 0.53 intronic rs181530339 HLA-DRB5 AU NM_002125 exon3 c.928+183A>C 0.0499201 0.0079 Uncertain 6_32486632_T->C 6 32486632 32486632 T C snp 515.77 1/1 39 14 0 14 1.0 intronic rs147404658 HLA-DRB5 AU NM_002125 exon3 c.928+189T>C 0.697284 0.6419 Uncertain 6_32486639_T->A 6 32486639 32486639 T A snp 466.77 1/1 36 13 0 13 1.0 intronic rs116577630 HLA-DRB5 AU NM_002125 exon3 c.928+196T>A 0.697085 0.6419 Uncertain 6_32486652_C->T 6 32486652 32486652 C T snp 196.84 1/1 18 7 0 7 1.0 intronic rs114208862 HLA-DRB5 AU NM_002125 exon3 c.928+209C>T 0.0107827 0.004 Uncertain 6_32486943_T->G 6 32486943 32486943 T G snp 56.74 1/1 6 2 0 2 1.0 intronic rs114195502 HLA-DRB5 AU NM_002125 exon4 c.1631-203T>G 0.722045 0.6796 Uncertain 6_32486945_C->T 6 32486945 32486945 C T snp 56.74 1/1 6 2 0 2 1.0 intronic rs114823279 HLA-DRB5 AU NM_002125 exon4 c.1631-201C>T Uncertain 6_32486948_C->G 6 32486948 32486948 C G snp 91.28 1/1 9 3 0 3 1.0 intronic rs116576223 HLA-DRB5 AU NM_002125 exon4 c.1631-198C>G 0.720847 0.6766 Uncertain 6_32486953_A->C 6 32486953 32486953 A C snp 131.03 1/1 12 4 0 4 1.0 intronic rs150596400 HLA-DRB5 AU NM_002125 exon4 c.1631-193A>C 0.721246 0.6786 Uncertain 6_32486970_A->G 6 32486970 32486970 A G snp 259.8 1/1 21 7 0 7 1.0 intronic rs114324495 HLA-DRB5 AU NM_002125 exon4 c.1631-176A>G 0.645367 0.63 Uncertain 6_32486973_A->G 6 32486973 32486973 A G snp 259.8 1/1 21 8 0 8 1.0 intronic rs116448083 HLA-DRB5 AU NM_002125 exon4 c.1631-173A>G 0.385184 0.4573 Uncertain 6_32486992_C->G 6 32486992 32486992 C G snp 362.77 1/1 30 10 0 10 1.0 intronic rs559236302 HLA-DRB5 AU NM_002125 exon4 c.1631-154C>G 0.276158 0.3204 Uncertain 6_32486994_-->T 6 32486994 32486994 - T indel 386.74 1/1 30 10 0 10 1.0 intronic rs372300291 HLA-DRB5 AU NM_002125 exon4 c.1631-152insT Uncertain 6_32487004_-->C 6 32487004 32487004 - C indel 388.73 1/1 36 12 0 12 1.0 intronic rs141086493 HLA-DRB5 AU NM_002125 exon4 c.1631-142insC Uncertain 6_32487054_T->C 6 32487054 32487054 T C snp 580.77 1/1 45 28 0 28 1.0 intronic rs377529498 HLA-DRB5 AU NM_002125 exon4 c.1631-92T>C Uncertain 6_32487056_G->T 6 32487056 32487056 G T snp 580.77 1/1 45 28 0 28 1.0 intronic rs753448073 HLA-DRB5 AU NM_002125 exon4 c.1631-90G>T Uncertain 6_32487068_T->G 6 32487068 32487068 T G snp 573.77 1/1 45 28 0 28 1.0 intronic rs72508429 HLA-DRB5 AU NM_002125 exon4 c.1631-78T>G 0.750998 0.7083 Uncertain 6_32487069_G->A 6 32487069 32487069 G A snp 542.77 1/1 42 28 0 28 1.0 intronic rs764759886 HLA-DRB5 AU NM_002125 exon4 c.1631-77G>A Uncertain 6_32487093_G->C 6 32487093 32487093 G C snp 370.77 1/1 30 18 0 18 1.0 intronic rs201045821 HLA-DRB5 AU NM_002125 exon4 c.1631-53G>C Uncertain 6_32487094_T->C 6 32487094 32487094 T C snp 346.77 1/1 30 18 0 18 1.0 intronic rs201958319 HLA-DRB5 AU NM_002125 exon4 c.1631-52T>C 0.593251 0.5258 Uncertain 6_32487099_T->A 6 32487099 32487099 T A snp 314.77 1/1 30 18 0 18 1.0 intronic rs201023386 HLA-DRB5 AU NM_002125 exon4 c.1631-47T>A 0.000798722 0.002 Uncertain 6_32487100_T->C 6 32487100 32487100 T C snp 364.77 1/1 30 18 0 18 1.0 intronic rs201850026 HLA-DRB5 AU NM_002125 exon4 c.1631-46T>C 0.588458 0.5188 0.1114 0.1464 Uncertain 6_32487101_T->C 6 32487101 32487101 T C snp 364.77 1/1 30 18 0 18 1.0 intronic rs201061956 HLA-DRB5 AU NM_002125 exon4 c.1631-45T>C 0.239417 0.2034 0.353069 0.4737 0.5011 Uncertain 6_32487102_G->C 6 32487102 32487102 G C snp 359.77 1/1 30 18 0 18 1.0 intronic rs200254403 HLA-DRB5 AU NM_002125 exon4 c.1631-44G>C 0.584665 0.5169 0.0997 0.1326 Uncertain 6_32487107_T->A 6 32487107 32487107 T A snp 318.77 0/1 99 27 7 20 0.74 intronic rs202122702 HLA-DRB5 AU NM_002125 exon4 c.1631-39T>A 0 0 Uncertain 6_32487112_G->T 6 32487112 32487112 G T snp 343.77 0/1 99 35 12 23 0.66 intronic rs200602399 HLA-DRB5 AU NM_002125 exon4 c.1631-34G>T 0 0 Uncertain 6_32487123_T->G 6 32487123 32487123 T G snp 927.77 0/1 99 71 25 46 0.65 intronic rs111596698 HLA-DRB5 AU NM_002125 exon4 c.1631-23T>G 0.232029 0.2312 0.0881 0.1501 Uncertain 6_32487153_C->G 6 32487153 32487153 C G snp 61.77 0/1 90 124 104 20 0.16 exonic rs112024745 HLA-DRB5 AU nonsynonymous SNV NM_002125 exon3 c.G646C p.E216Q 0.0269 0.0042 0.11 T 0.785 D -1.040 T 0.094 T 0.07 T Pathogenic 6_32487158_-->CA 6 32487158 32487158 - CA indel 1588.73 0/1 99 87 52 35 0.4 exonic rs138885982 HLA-DRB5 AU frameshift insertion NM_002125 exon3 c.640_641insTG p.T214fs Pathogenic 6_32487164_G->A 6 32487164 32487164 G A snp 624.77 0/1 99 138 84 54 0.39 exonic rs111541713 HLA-DRB5 AU nonsynonymous SNV NM_002125 exon3 c.C635T p.P212L 0 D 0.982 N -0.908 T 0.999 D 0.945 D Pathogenic 6_32487170_G->A 6 32487170 32487170 G A snp 2422.77 1/1 99 143 0 143 1.0 exonic rs1136633 HLA-DRB5 AU nonsynonymous SNV NM_002125 exon3 c.C629T p.T210M 0.264776 0.2956 0.137185 0.1585 0.2082 0.14 T 0.0 P -0.933 T 0.045 T 0.009 T Pathogenic 6_32487174_C->T 6 32487174 32487174 C T snp 1197.77 0/1 99 147 60 87 0.59 exonic rs112872773 HLA-DRB5 AU nonsynonymous SNV NM_002125 exon3 c.G625A p.V209M 0.0240 0.0053 0.11 T 1 N -0.922 T 0.255 T 0.038 T Pathogenic 6_32487175_G->A 6 32487175 32487175 G A snp 866.77 0/1 99 149 89 60 0.4 exonic rs77866376 HLA-DRB5 AU synonymous SNV NM_002125 exon3 c.C624T p.S208S 0.201236 0.2379 0.2217 Uncertain 6_32487181_G->A 6 32487181 32487181 G A snp 351.77 0/1 99 151 113 38 0.25 exonic rs113405227 HLA-DRB5 AU synonymous SNV NM_002125 exon3 c.C618T p.H206H 0.0271 0.0048 Uncertain 6_32487189_C->G 6 32487189 32487189 C G snp 665.77 0/1 99 160 107 53 0.33 exonic rs201575183 HLA-DRB5 AU nonsynonymous SNV NM_002125 exon3 c.G610C p.V204L 0 D 1.000 D -0.354 T 0.998 D 0.994 D Pathogenic 6_32487193_G->A 6 32487193 32487193 G A snp 651.77 0/1 99 161 109 52 0.32 exonic rs200042866 HLA-DRB5 AU synonymous SNV NM_002125 exon3 c.C606T p.C202C Uncertain 6_32487205_C->T 6 32487205 32487205 C T snp 878.77 0/1 99 173 104 69 0.4 exonic rs149415995 HLA-DRB5 AU synonymous SNV NM_002125 exon3 c.G594A p.E198E 0.1178 0.1603 Uncertain 6_32487209_C->G 6 32487209 32487209 C G snp 527.77 0/1 99 171 123 48 0.28 exonic rs189435670 HLA-DRB5 AU nonsynonymous SNV NM_002125 exon3 c.G590C p.G197A 0 D 0.998 D -0.986 T 0.999 D 0.905 D Pathogenic 6_32487212_C->T 6 32487212 32487212 C T snp 530.77 0/1 99 173 126 47 0.27 exonic rs201372521 HLA-DRB5 AU nonsynonymous SNV NM_002125 exon3 c.G587A p.S196N 0 D 1.000 N -1.047 T 0.71 T 0.615 P Pathogenic 6_32487214_T->C 6 32487214 32487214 T C snp 2740.77 1/1 99 175 0 175 1.0 exonic rs144016913 HLA-DRB5 AU synonymous SNV NM_002125 exon3 c.A585G p.R195R 0.767173 0.7242 0.698330 0.7659 0.7847 Uncertain 6_32487215_C->T 6 32487215 32487215 C T snp 734.77 0/1 99 176 108 68 0.39 exonic rs148933006 HLA-DRB5 AU nonsynonymous SNV NM_002125 exon3 c.G584A p.R195Q 0.0315495 0.0248 0.0206 0.0183 1 T 1 N -0.959 T 0.009 T 0.006 T Pathogenic 6_32487268_A->G 6 32487268 32487268 A G snp 2642.77 1/1 99 167 0 167 1.0 exonic rs1059643 HLA-DRB5 AU synonymous SNV NM_002125 exon3 c.T531C p.I177I 0.20647 0.2331 0.685861 0.7634 0.7784 Uncertain 6_32487309_T->C 6 32487309 32487309 T C snp 1548.77 1/1 99 98 0 98 1.0 exonic rs1059633 HLA-DRB5 AU nonsynonymous SNV NM_002125 exon3 c.A490G p.S164G 0.652955 0.6429 0.695455 0.7934 0.8309 1 T 0.0 P -1.018 T 0.0 T 0.0 T Pathogenic 6_32487390_T->G 6 32487390 32487390 T G snp 274.77 1/1 30 19 0 19 1.0 exonic rs77180119 HLA-DRB5 AU nonsynonymous SNV NM_002125 exon3 c.A409C p.T137P 0.709065 0.6498 0.656206 0.4562 0.4257 1 T 0.0 P -0.967 T 0.0 T 0.0 T Pathogenic 6_32487398_C->T 6 32487398 32487398 C T snp 174.8 1/1 21 14 0 14 1.0 exonic rs115198947 HLA-DRB5 AU nonsynonymous SNV NM_002125 exon3 c.G401A p.R134K 0.709065 0.6498 0.650415 0.4302 0.3966 1 T 0.000 P -0.958 T 0.0 T 0.0 T Pathogenic 6_32487402_C->A 6 32487402 32487402 C A snp 76.85 0/1 17 10 3 7 0.7 exonic rs114131132 HLA-DRB5 AU nonsynonymous SNV NM_002125 exon3 c.G397T p.A133S 0.302117 0.255 0.1649 0.0983 0.35 T 0.0 P -0.917 T 0.0 T 0.021 T Pathogenic 6_32487458_C->G 6 32487458 32487458 C G snp 77.28 1/1 9 4 0 4 1.0 intronic rs114645980 HLA-DRB5 AU NM_002125 exon4 c.1913+30C>G 0.0328 0.0043 Uncertain 6_32487474_G->A 6 32487474 32487474 G A snp 77.28 1/1 9 4 0 4 1.0 intronic rs189049184 HLA-DRB5 AU NM_002125 exon4 c.1913+46G>A 0.702276 0.6508 0.0162 0.0026 Uncertain 6_32487476_A->G 6 32487476 32487476 A G snp 77.28 1/1 9 4 0 4 1.0 intronic rs760543626 HLA-DRB5 AU NM_002125 exon4 c.1913+48A>G 0.0155 0.0027 Uncertain 6_32487484_T->G 6 32487484 32487484 T G snp 77.28 1/1 9 4 0 4 1.0 intronic rs112289448 HLA-DRB5 AU NM_002125 exon4 c.1913+56T>G 0.696086 0.626 Uncertain 6_32487557_A->T 6 32487557 32487557 A T snp 51.74 1/1 6 3 0 3 1.0 intronic rs72508433 HLA-DRB5 AU NM_002125 exon4 c.1913+129A>T Uncertain 6_32489510_G->C 6 32489510 32489510 G C snp 301.78 1/1 24 8 0 8 1.0 intronic rs146892544 HLA-DRB5 AU NM_002125 exon5 c.4166-171G>C 0.741014 0.7083 Uncertain 6_32489516_G->A 6 32489516 32489516 G A snp 386.77 1/1 30 10 0 10 1.0 intronic rs145860845 HLA-DRB5 AU NM_002125 exon5 c.4166-165G>A 0.0720847 0.1786 Uncertain 6_32489563_-->TT 6 32489563 32489563 - TT indel 2493.73 1/1 99 52 2 50 0.96 intronic rs199562753 HLA-DRB5 AU NM_002125 exon5 c.4166-118insTT Uncertain 6_32489589_CACACACACACACA->- 6 32489589 32489602 CACACACACACACA - indel 7309.73 1/1 99 54 0 54 1.0 intronic rs771632640 HLA-DRB5 AU NM_002125 exon5 c.4166-92_4166-79delCACACACACACACA Uncertain 6_32489604_A->T 6 32489604 32489604 A T snp 1259.77 0/1 99 121 78 43 0.36 intronic HLA-DRB5 AU NM_002125 exon5 c.4166-77A>T Uncertain 6_32489606_A->T 6 32489606 32489606 A T snp 1299.77 0/1 99 134 91 43 0.32 intronic HLA-DRB5 AU NM_002125 exon5 c.4166-75A>T Uncertain 6_32489608_A->T 6 32489608 32489608 A T snp 1269.77 0/1 99 137 95 42 0.31 intronic HLA-DRB5 AU NM_002125 exon5 c.4166-73A>T Uncertain 6_32489610_A->T 6 32489610 32489610 A T snp 1220.77 0/1 99 142 100 42 0.3 intronic rs750678528 HLA-DRB5 AU NM_002125 exon5 c.4166-71A>T Uncertain 6_32489615_C->T 6 32489615 32489615 C T snp 772.77 0/1 99 245 174 71 0.29 intronic HLA-DRB5 AU NM_002125 exon5 c.4166-66C>T Uncertain 6_32489619_CACACACACACACT->- 6 32489619 32489632 CACACACACACACT - indel 7226.73 0/1 99 208 106 102 0.49 intronic HLA-DRB5 AU NM_002125 exon5 c.4166-62_4166-49delCACACACACACACT Uncertain 6_32489642_A->C 6 32489642 32489642 A C snp 421.77 0/1 99 250 196 54 0.22 intronic rs147192780 HLA-DRB5 AU NM_002125 exon5 c.4166-39A>C 0.198083 0.1389 0.045621 0.0028 0.0007 Uncertain 6_32489644_C->T 6 32489644 32489644 C T snp 4301.77 0/1 99 250 72 178 0.71 intronic rs117213960 HLA-DRB5 AU NM_002125 exon5 c.4166-37C>T 0.0589058 0.1587 0.014597 0.0102 0.0368 Uncertain 6_32489650_A->G 6 32489650 32489650 A G snp 6361.77 1/1 99 250 0 250 1.0 intronic rs115862317 HLA-DRB5 AU NM_002125 exon5 c.4166-31A>G 0.667518 0.1170 0.1256 Uncertain 6_32489668_C->T 6 32489668 32489668 C T snp 72.77 0/1 99 250 219 31 0.12 intronic rs111875855 HLA-DRB5 AU NM_002125 exon5 c.4166-13C>T 0.179113 0.1637 0.0217 0.0112 Uncertain 6_32489679_C->T 6 32489679 32489679 C T snp 5364.77 0/1 99 250 46 204 0.82 splicing rs117108573 HLA-DRB5 AU NM_002125 exon5 c.4166-2C>T 0.0539137 0.1448 0.013724 0.0167 0.0946 Pathogenic 6_32489688_G->T 6 32489688 32489688 G T snp 5564.77 0/1 99 248 38 210 0.85 exonic rs117501019 HLA-DRB5 AU synonymous SNV NM_002125 exon2 c.C364A p.R122R 0.0539137 0.1448 0.013613 0.0192 0.1046 Uncertain 6_32489707_A->C 6 32489707 32489707 A C snp 167.77 0/1 99 250 219 31 0.12 exonic rs41559714 HLA-DRB5 AU synonymous SNV NM_002125 exon2 c.T345G p.G115G 0.239816 0.2242 0.0999 0.0673 Uncertain 6_32489708_C->A 6 32489708 32489708 C A snp 120.77 0/1 99 250 223 27 0.11 exonic rs41556512 HLA-DRB5 AU nonsynonymous SNV NM_002125 exon2 c.G344T p.G115V 0.239816 0.2242 0.0996 0.0666 0.94 T 1 N -1.000 T 0.045 T 0.172 T Pathogenic 6_32489731_G->C 6 32489731 32489731 G C snp 5110.77 0/1 99 213 26 187 0.88 exonic rs41554620 HLA-DRB5 AU stopgain NM_002125 exon2 c.C321G p.Y107X 0.0146 0.0778 1 T 1 A Pathogenic 6_32489732_T->A 6 32489732 32489732 T A snp 4954.77 0/1 99 214 29 185 0.86 exonic rs1064677 HLA-DRB5 AU nonsynonymous SNV NM_002125 exon2 c.A320T p.Y107F 0.0702875 0.1429 0.0141 0.0733 0.1 T 1 N -0.979 T 0.001 T 0.005 T Pathogenic 6_32489733_A->C 6 32489733 32489733 A C snp 5097.77 0/1 99 215 30 185 0.86 exonic rs1064595 HLA-DRB5 AU nonsynonymous SNV NM_002125 exon2 c.T319G p.Y107D 0.0702875 0.1429 0.0140 0.0721 0 D 1 N -0.964 T 0.992 D 0.907 D Pathogenic 6_32489744_G->T 6 32489744 32489744 G T snp 5857.77 1/1 99 207 0 207 1.0 exonic rs1059598 HLA-DRB5 AU nonsynonymous SNV NM_002125 exon2 c.C308A p.A103E 0.0296 0.0881 0.87 T 0.0 P -0.950 T 0.04 T 0.055 T Pathogenic 6_32489749_G->C 6 32489749 32489749 G C snp 5851.77 1/1 99 202 1 201 1.0 exonic rs1064594 HLA-DRB5 AU synonymous SNV NM_002125 exon2 c.C303G p.R101R 0.651988 0.4437 0.4364 Uncertain 6_32489755_G->C 6 32489755 32489755 G C snp 5529.77 1/1 99 186 0 186 1.0 exonic rs41559913 HLA-DRB5 AU nonsynonymous SNV NM_002125 exon2 c.C297G p.D99E 0.328275 0.3244 0.0003 0.0002 0.16 T 1 N -0.996 T 0.0 T 0.003 T Pathogenic 6_32489756_T->C 6 32489756 32489756 T C snp 5508.77 1/1 99 186 0 186 1.0 exonic rs41545413 HLA-DRB5 AU nonsynonymous SNV NM_002125 exon2 c.A296G p.D99G 0.153954 0.2083 1.882e-05 0 0.01 T 1 N -0.967 T 0.01 T 0.065 T Pathogenic 6_32489757_C->G 6 32489757 32489757 C G snp 5538.77 1/1 99 186 0 186 1.0 exonic rs41547217 HLA-DRB5 AU nonsynonymous SNV NM_002125 exon2 c.G295C p.D99H 0.323882 0.3234 1.847e-05 0 0 D 1 N -1.009 T 0.135 T 0.257 T Pathogenic 6_32489758_T->C 6 32489758 32489758 T C snp 5600.77 1/1 99 188 0 188 1.0 exonic rs41556615 HLA-DRB5 AU synonymous SNV NM_002125 exon2 c.A294G p.E98E 0.342652 0.3284 0.0004 0 Uncertain 6_32489766_A->G 6 32489766 32489766 A G snp 613.77 0/1 99 250 203 47 0.19 exonic rs41562819 HLA-DRB5 AU nonsynonymous SNV NM_002125 exon2 c.T286C p.F96L 0.1004 0.1450 1 T 0.0 P -0.924 T 0.0 T 0.0 T Pathogenic 6_32489786_T->G 6 32489786 32489786 T G snp 5501.77 0/1 99 250 60 190 0.76 exonic rs41541218 HLA-DRB5 AU nonsynonymous SNV NM_002125 exon2 c.A266C p.Y89S 0.176518 0.2867 0.0763 0.2821 0.17 T 0.190 P -0.986 T 0.003 T 0.009 T ID=COSM248952;OCCURENCE=1(pancreas) Pathogenic 6_32489791_A->G 6 32489791 32489791 A G snp 5480.77 0/1 99 249 56 193 0.78 exonic rs41550412 HLA-DRB5 AU synonymous SNV NM_002125 exon2 c.T261C p.A87A 0.3651 0.4939 Uncertain 6_32489795_T->A 6 32489795 32489795 T A snp 5480.77 0/1 99 249 59 190 0.76 exonic rs144532965 HLA-DRB5 AU nonsynonymous SNV NM_002125 exon2 c.A257T p.D86V 0.0714 0.2724 0.29 T 0.0 P -1.009 T 0.007 T 0.075 T Pathogenic 6_32489822_C->T 6 32489822 32489822 C T snp 838.77 0/1 99 250 190 60 0.24 exonic rs115417906 HLA-DRB5 AU nonsynonymous SNV NM_002125 exon2 c.G230A p.R77Q 0.0265 0.0217 0.02 T 1 N -1.031 T 0.39 T 0.028 T ID=COSM451266;OCCURENCE=1(breast),1(kidney) Pathogenic 6_32489835_C->G 6 32489835 32489835 C G snp 777.77 0/1 99 250 175 75 0.3 exonic rs118111025 HLA-DRB5 AU nonsynonymous SNV NM_002125 exon2 c.G217C p.V73L 0.0133 0.0103 0.07 T 0.954 D -0.916 T 0.003 T 0.016 T ID=COSM3366462;OCCURENCE=1(kidney) Pathogenic 6_32489839_G->A 6 32489839 32489839 G A snp 658.77 0/1 99 250 201 49 0.2 exonic rs151326153 HLA-DRB5 AU synonymous SNV NM_002125 exon2 c.C213T p.S71S 0.0028 0.0004 ID=COSM3366463;OCCURENCE=1(kidney) Uncertain 6_32489844_C->T 6 32489844 32489844 C T snp 1092.77 0/1 99 250 177 73 0.29 exonic rs140580884 HLA-DRB5 AU nonsynonymous SNV NM_002125 exon2 c.G208A p.D70N 0.0022 0 0.02 T 0.712 D -0.915 T 0.479 P 0.057 P Pathogenic 6_32489846_A->T 6 32489846 32489846 A T snp 647.77 0/1 99 250 205 45 0.18 exonic rs150479833 HLA-DRB5 AU nonsynonymous SNV NM_002125 exon2 c.T206A p.F69Y 0.109425 0.0784 0.0043 0.0009 0.06 T 0.773 D -0.934 T 0.007 T 0.034 T Pathogenic 6_32489852_A->G 6 32489852 32489852 A G snp 625.77 0/1 99 248 201 47 0.19 exonic rs192498095 HLA-DRB5 AU nonsynonymous SNV NM_002125 exon2 c.T200C p.L67S 0.251198 0.1845 0.0108 0.0034 0 D 1 N -0.997 T 0.978 D 0.826 D Pathogenic 6_32489853_A->C 6 32489853 32489853 A C snp 7306.77 1/1 99 247 0 247 1.0 exonic rs1059580 HLA-DRB5 AU nonsynonymous SNV NM_002125 exon2 c.T199G p.L67V 0.668862 0.3990 0.5749 1 T 0.0 P -1.063 T 0.0 T 0.001 T Pathogenic 6_32489856_C->A 6 32489856 32489856 C A snp 6646.77 ./1 99 250 2 248 0.99 exonic rs77853982 HLA-DRB5 AU nonsynonymous SNV NM_002125 exon2 c.G196T p.D66Y 0.0923 0.0609 1 T 0.000 P -0.904 T 0.001 T 0.003 T Pathogenic 6_32489856_C->T 6 32489856 32489856 C T snp 6646.77 ./1 99 250 2 248 0.99 exonic rs77853982 HLA-DRB5 AU nonsynonymous SNV NM_002125 exon2 c.G196A p.D66N 0.2873 0.5047 0.3 T 1 N -0.937 T 0.0 T 0.003 T Pathogenic 6_32489876_T->C 6 32489876 32489876 T C snp 5038.77 0/1 99 250 80 170 0.68 exonic rs41546317 HLA-DRB5 AU nonsynonymous SNV NM_002125 exon2 c.A176G p.D59G 0.23762 0.3363 0.095041 0.2989 0.4880 0.04 T 0.0 P -1.002 T 0.0 T 0.001 T Pathogenic 6_32489877_C->A 6 32489877 32489877 C A snp 1038.77 0/1 99 242 171 71 0.29 exonic rs138849995 HLA-DRB5 AU nonsynonymous SNV NM_002125 exon2 c.G175T p.D59Y 0.0121 0.0080 1 T 1 N -0.844 T 0.001 T 0.004 T Pathogenic 6_32489882_T->A 6 32489882 32489882 T A snp 617.77 0/1 99 240 193 47 0.2 exonic rs200298678 HLA-DRB5 AU nonsynonymous SNV NM_002125 exon2 c.A170T p.H57L 0.0003 0 0.03 T 1 N -0.973 T 0.033 T 0.026 T Pathogenic 6_32489883_G->T 6 32489883 32489883 G T snp 688.77 0/1 99 241 174 67 0.28 exonic rs142793258 HLA-DRB5 AU nonsynonymous SNV NM_002125 exon2 c.C169A p.H57N 0.0002 0 0.04 T 1 N -0.995 T 0.146 T 0.236 T Pathogenic 6_32489887_G->A 6 32489887 32489887 G A snp 4881.77 0/1 99 234 67 167 0.71 exonic rs202197820 HLA-DRB5 AU synonymous SNV NM_002125 exon2 c.C165T p.F55F 0.0618 0.2839 Uncertain 6_32489888_A->T 6 32489888 32489888 A T snp 7059.77 1/1 99 234 0 234 1.0 exonic rs147440497 HLA-DRB5 AU nonsynonymous SNV NM_002125 exon2 c.T164A p.F55Y 0.200879 0.2569 0.0635 0.2885 0.39 T 1 N -0.988 T 0.0 T 0.001 T Pathogenic 6_32489889_A->T 6 32489889 32489889 A T snp 681.77 0/1 99 247 203 44 0.18 exonic rs201469165 HLA-DRB5 AU nonsynonymous SNV NM_002125 exon2 c.T163A p.F55I 0.0002 0 0.01 T 1 N -0.891 T 0.06 T 0.034 T Pathogenic 6_32489896_C->T 6 32489896 32489896 C T snp 523.77 0/1 99 250 211 39 0.16 exonic rs189131084 HLA-DRB5 AU synonymous SNV NM_002125 exon2 c.G156A p.R52R 0.0002 0 Uncertain 6_32489908_G->A 6 32489908 32489908 G A snp 1139.77 0/1 99 250 160 90 0.36 exonic rs72508440 HLA-DRB5 AU synonymous SNV NM_002125 exon2 c.C144T p.N48N 0.545727 0.4216 0.0139 0.0089 Uncertain 6_32489913_A->G 6 32489913 32489913 A G snp 476.77 0/1 99 249 203 46 0.18 exonic rs201628145 HLA-DRB5 AU nonsynonymous SNV NM_002125 exon2 c.T139C p.F47L 0.0922524 0.0516 0 0 0.02 T 1 N -0.972 T 0.003 T 0.007 T Pathogenic 6_32489927_T->A 6 32489927 32489927 T A snp 5015.77 ./1 99 241 0 241 1.0 exonic rs1136760 HLA-DRB5 AU nonsynonymous SNV NM_002125 exon2 c.A125T p.Y42F 0.1075 0.4235 0.79 T 0.0 P -0.959 T 0.0 T 0.003 T Pathogenic 6_32489927_T->C 6 32489927 32489927 T C snp 5015.77 ./1 99 241 0 241 1.0 exonic rs1136760 HLA-DRB5 AU nonsynonymous SNV NM_002125 exon2 c.A125G p.Y42C 0 0 0.21 T 1 N -0.855 T 0.006 T 0.014 T Pathogenic 6_32489933_T->G 6 32489933 32489933 T G snp 1079.77 0/1 99 239 145 94 0.39 exonic rs1071748 HLA-DRB5 AU nonsynonymous SNV NM_002125 exon2 c.A119C p.D40A 0 0 0.57 T 1 N -1.012 T 0.002 T 0.005 T Pathogenic 6_32489940_G->C 6 32489940 32489940 G C snp 5371.77 ./1 99 237 1 236 1.0 exonic rs1071747 HLA-DRB5 AU nonsynonymous SNV NM_002125 exon2 c.C112G p.Q38E 0.0074 0.0037 1 T 0.0 P -0.867 T 0.0 T 0.0 T Pathogenic 6_32489940_G->T 6 32489940 32489940 G T snp 5371.77 ./1 99 237 1 236 1.0 exonic rs1071747 HLA-DRB5 AU nonsynonymous SNV NM_002125 exon2 c.C112A p.Q38K 0.047281 0.1115 0.4357 0.11 T 1 N -0.891 T 0.0 T 0.0 T Pathogenic 6_32489967_G->C 6 32489967 32489967 G C snp 1047.77 0/1 99 211 123 88 0.42 intronic rs116383591 HLA-DRB5 AU NM_002125 exon5 c.4436+16G>C 0.0036 0.0029 Uncertain 6_32489976_C->T 6 32489976 32489976 C T snp 154.77 0/1 99 197 154 43 0.22 intronic rs200665818 HLA-DRB5 AU NM_002125 exon5 c.4436+25C>T 0 0 Uncertain 6_32489980_G->C 6 32489980 32489980 G C snp 284.77 0/1 99 192 158 34 0.18 intronic rs112326475 HLA-DRB5 AU NM_002125 exon5 c.4436+29G>C 0.538339 0.3869 0.0030 0.0028 Uncertain 6_32489981_G->A 6 32489981 32489981 G A snp 203.77 0/1 99 191 149 42 0.22 intronic rs36165851 HLA-DRB5 AU NM_002125 exon5 c.4436+30G>A 0.442692 0.377 0.0028 0.0028 Uncertain 6_32489982_G->A 6 32489982 32489982 G A snp 222.77 0/1 99 191 149 42 0.22 intronic rs201214949 HLA-DRB5 AU NM_002125 exon5 c.4436+31G>A 0 0 Uncertain 6_32489987_C->A 6 32489987 32489987 C A snp 180.77 0/1 99 178 137 41 0.23 intronic HLA-DRB5 AU NM_002125 exon5 c.4436+36C>A Uncertain 6_32489992_G->T 6 32489992 32489992 G T snp 142.77 0/1 99 166 139 27 0.16 intronic rs144901015 HLA-DRB5 AU NM_002125 exon5 c.4436+41G>T 0.537141 0.3869 0.0024 0.0024 Uncertain 6_32489994_G->A 6 32489994 32489994 G A snp 150.77 0/1 99 157 131 26 0.17 intronic rs188812628 HLA-DRB5 AU NM_002125 exon5 c.4436+43G>A 0.537141 0.3869 0.0023 0.0021 Uncertain 6_32490000_T->C 6 32490000 32490000 T C snp 3273.77 1/1 99 133 0 133 1.0 intronic rs149025589 HLA-DRB5 AU NM_002125 exon5 c.4436+49T>C 0.734824 0.6974 0.219517 0.1450 0.3271 Uncertain 6_32490004_G->A 6 32490004 32490004 G A snp 2017.77 0/1 99 124 56 68 0.55 intronic rs145896301 HLA-DRB5 AU NM_002125 exon5 c.4436+53G>A 0.091254 0.2232 Uncertain 6_32490009_A->C 6 32490009 32490009 A C snp 34.77 0/1 63 79 64 15 0.19 intronic rs147793404 HLA-DRB5 AU NM_002125 exon5 c.4436+58A>C Uncertain 6_32490016_G->A 6 32490016 32490016 G A snp 2029.77 1/1 99 62 0 62 1.0 intronic rs141378803 HLA-DRB5 AU NM_002125 exon5 c.4436+65G>A 0.308706 0.4544 Uncertain 6_32490044_G->T 6 32490044 32490044 G T snp 448.78 0/1 26 18 4 14 0.78 intronic rs146983148 HLA-DRB5 AU NM_002125 exon5 c.4436+93G>T Uncertain 6_32497821_C->G 6 32497821 32497821 C G snp 61.77 0/1 90 31 17 14 0.45 intronic HLA-DRB5 AU NM_002125 exon6 c.12386-80C>G Uncertain 6_32497824_C->A 6 32497824 32497824 C A snp 55.77 0/1 84 33 19 14 0.42 intronic HLA-DRB5 AU NM_002125 exon6 c.12386-77C>A 0.53095 0.5079 Uncertain 6_32497837_A->G 6 32497837 32497837 A G snp 35.77 0/1 64 62 51 11 0.18 intronic HLA-DRB5 AU NM_002125 exon6 c.12386-64A>G Uncertain 6_32497838_A->G 6 32497838 32497838 A G snp 38.77 0/1 67 62 51 11 0.18 intronic HLA-DRB5 AU NM_002125 exon6 c.12386-63A>G Uncertain 6_32497847_A->C 6 32497847 32497847 A C snp 637.77 0/1 99 68 40 28 0.41 intronic HLA-DRB5 AU NM_002125 exon6 c.12386-54A>C 0.357228 0.3681 Uncertain 6_32497852_C->T 6 32497852 32497852 C T snp 208.77 0/1 99 71 52 19 0.27 intronic HLA-DRB5 AU NM_002125 exon6 c.12386-49C>T Uncertain 6_32497860_-->TGC 6 32497860 32497860 - TGC indel 763.73 0/1 99 55 40 15 0.27 intronic HLA-DRB5 AU NM_002125 exon6 c.12386-41insTGC Uncertain 6_32497863_C->G 6 32497863 32497863 C G snp 784.77 0/1 99 73 27 46 0.63 intronic HLA-DRB5 AU NM_002125 exon6 c.12386-38C>G 0.1975 0.2601 Uncertain 6_32497864_C->G 6 32497864 32497864 C G snp 66.77 0/1 95 75 60 15 0.2 intronic HLA-DRB5 AU NM_002125 exon6 c.12386-37C>G 0.0101 0.0038 Uncertain 6_32497868_C->T 6 32497868 32497868 C T snp 38.77 0/1 67 76 62 14 0.18 intronic HLA-DRB5 AU NM_002125 exon6 c.12386-33C>T 0.0098 0.0038 Uncertain 6_32497880_A->T 6 32497880 32497880 A T snp 129.77 0/1 99 111 91 20 0.18 intronic HLA-DRB5 AU NM_002125 exon6 c.12386-21A>T Uncertain 6_32497884_C->A 6 32497884 32497884 C A snp 424.77 0/1 99 112 63 49 0.44 intronic HLA-DRB5 AU NM_002125 exon6 c.12386-17C>A Uncertain 6_32497885_C->T 6 32497885 32497885 C T snp 166.77 0/1 99 112 92 20 0.18 intronic HLA-DRB5 AU NM_002125 exon6 c.12386-16C>T 8.26e-06 0.0001 Uncertain 6_32497890_A->G 6 32497890 32497890 A G snp 397.77 0/1 99 114 85 29 0.25 intronic HLA-DRB5 AU NM_002125 exon6 c.12386-11A>G 8.264e-06 0 Uncertain 6_32497891_T->G 6 32497891 32497891 T G snp 397.77 0/1 99 114 85 29 0.25 intronic HLA-DRB5 AU NM_002125 exon6 c.12386-10T>G Uncertain 6_32497901_C->T 6 32497901 32497901 C T snp 1094.53 0/1 99 119 46 73 0.61 splicing HLA-DRB5 AU NM_002125 exon6 c.12386C>T 0.3583 0.3586 0.098 P Pathogenic 6_32497904_C->T 6 32497904 32497904 C T snp 178.77 0/1 99 120 89 31 0.26 exonic HLA-DRB5 AU nonsynonymous SNV NM_002125 exon1 c.G98A p.R33Q 0.1141 0.1501 0.33 T 1 N -0.992 T 0.004 T 0.001 T Pathogenic 6_32497905_G->A 6 32497905 32497905 G A snp 1098.94 0/1 99 120 46 74 0.62 exonic HLA-DRB5 AU stopgain NM_002125 exon1 c.C97T p.R33X 0.1976 0.2187 1 T 1 A Pathogenic 6_32497914_C->T 6 32497914 32497914 C T snp 1135.77 0/1 99 127 75 52 0.41 exonic HLA-DRB5 AU nonsynonymous SNV NM_002125 exon1 c.G88A p.G30R 0.2203 0.2381 1 T 0.0 P -1.056 T 0.014 T 0.065 T Pathogenic 6_32497943_A->G 6 32497943 32497943 A G snp 1494.77 0/1 99 119 49 70 0.59 exonic HLA-DRB5 AU nonsynonymous SNV NM_002125 exon1 c.T59C p.M20T 0.297632 0.3092 0.2930 0.04 T 0.0 P -0.936 T 0.0 T 0.001 T Pathogenic 6_32497947_G->A 6 32497947 32497947 G A snp 43.77 0/1 72 116 100 16 0.14 exonic HLA-DRB5 AU synonymous SNV NM_002125 exon1 c.C55T p.L19L Uncertain 6_32497961_T->G 6 32497961 32497961 T G snp 1765.77 1/1 99 72 1 71 0.99 exonic HLA-DRB5 AU nonsynonymous SNV NM_002125 exon1 c.A41C p.K14T 0.655197 0.4409 0.4586 0.01 T 0.0 P -0.975 T 0.0 T 0.0 T Pathogenic 6_32497962_T->C 6 32497962 32497962 T C snp 1766.77 1/1 99 72 0 72 1.0 exonic HLA-DRB5 AU nonsynonymous SNV NM_002125 exon1 c.A40G p.K14E 0.672784 0.3840 0.4530 0 D 0.0 P -1.013 T 0.0 T 0.0 T Pathogenic 6_32497970_T->C 6 32497970 32497970 T C snp 30.77 0/1 59 70 53 17 0.24 exonic HLA-DRB5 AU nonsynonymous SNV NM_002125 exon1 c.A32G p.Y11C 0.4646 0.4801 1 T 1 N -1.008 T 0.0 T 0.0 T Pathogenic 6_32497975_A->G 6 32497975 32497975 A G snp 109.77 0/1 99 74 54 20 0.27 exonic HLA-DRB5 AU synonymous SNV NM_002125 exon1 c.T27C p.G9G 0.4706 0.4856 Uncertain 6_32498033_G->A 6 32498033 32498033 G A snp 936.77 0/1 63 49 11 38 0.78 upstream HLA-DRB5 AU 0.3145 0.3022 Uncertain 6_32498067_T->C 6 32498067 32498067 T C snp 763.77 1/1 57 33 0 33 1.0 upstream HLA-DRB5 AU 0.815695 0.7708 Uncertain 6_32498071_C->T 6 32498071 32498071 C T snp 38.77 0/1 67 31 22 9 0.29 upstream HLA-DRB5 AU Uncertain 6_32498085_C->T 6 32498085 32498085 C T snp 47.77 0/1 76 23 15 8 0.35 upstream HLA-DRB5 AU Uncertain 6_32498094_G->A 6 32498094 32498094 G A snp 545.77 1/1 42 22 0 22 1.0 upstream HLA-DRB5 AU 0.804513 0.753 Uncertain 6_32498099_G->A 6 32498099 32498099 G A snp 50.77 0/1 79 22 14 8 0.36 upstream HLA-DRB5 AU Uncertain 6_32498126_T->G 6 32498126 32498126 T G snp 101.77 1/1 6 6 0 6 1.0 upstream HLA-DRB5 AU Uncertain 6_32498134_C->A 6 32498134 32498134 C A snp 40.74 1/1 6 3 0 3 1.0 upstream HLA-DRB5 AU 0.808107 0.7659 Uncertain 6_32546622_C->A 6 32546622 32546622 C A snp 88.28 1/1 9 3 0 3 1.0 intergenic HLA-DRB6 AU Uncertain 6_32546623_A->G 6 32546623 32546623 A G snp 88.28 1/1 9 3 0 3 1.0 intergenic HLA-DRB6 AU Uncertain 6_32546624_T->G 6 32546624 32546624 T G snp 88.28 1/1 9 3 0 3 1.0 intergenic HLA-DRB6 AU Uncertain 6_32546626_C->A 6 32546626 32546626 C A snp 86.28 1/1 9 3 0 3 1.0 intergenic HLA-DRB6 AU Uncertain 6_32546629_T->G 6 32546629 32546629 T G snp 113.03 1/1 12 4 0 4 1.0 intergenic HLA-DRB6 AU Uncertain 6_32546635_C->T 6 32546635 32546635 C T snp 145.9 1/1 15 6 0 6 1.0 intergenic HLA-DRB6 AU Uncertain 6_32546665_C->T 6 32546665 32546665 C T snp 323.77 1/1 27 11 0 11 1.0 intergenic HLA-DRB6 AU 0.0084 0 Uncertain 6_32546680_T->C 6 32546680 32546680 T C snp 372.74 0/1 6 15 2 13 0.87 intergenic HLA-DRB6 AU 0.0007 0 Uncertain 6_32546681_G->A 6 32546681 32546681 G A snp 374.74 0/1 6 15 2 13 0.87 intergenic HLA-DRB6 AU 0.0005 0 Uncertain 6_32546696_G->A 6 32546696 32546696 G A snp 472.77 1/1 39 17 0 17 1.0 intergenic HLA-DRB6 AU 0.0012 0 Uncertain 6_32546703_A->G 6 32546703 32546703 A G snp 403.53 0/1 3 18 2 16 0.89 intergenic HLA-DRB6 AU 0.0740815 0.0645 0.0011 0 Uncertain 6_32546736_-->AG 6 32546736 32546736 - AG indel 975.73 1/1 60 21 0 21 1.0 intergenic HLA-DRB6 AU 0.0040 0.0023 Uncertain 6_32546743_C->T 6 32546743 32546743 C T snp 836.77 1/1 66 31 0 31 1.0 intergenic HLA-DRB6 AU 0.704073 0.7073 0.6514 0.6917 Uncertain 6_32546761_G->A 6 32546761 32546761 G A snp 1030.77 0/1 78 50 9 41 0.82 intergenic HLA-DRB6 AU 0.0814696 0.0784 0.0057 0.0036 Uncertain 6_32546765_T->G 6 32546765 32546765 T G snp 42.77 0/1 71 54 45 9 0.17 intergenic HLA-DRB6 AU 0.0189696 0.0218 0.0003 0 Uncertain 6_32546773_C->G 6 32546773 32546773 C G snp 36.77 0/1 65 57 47 10 0.18 intergenic HLA-DRB6 AU 0.0003 0 Uncertain 6_32546774_C->T 6 32546774 32546774 C T snp 36.77 0/1 65 60 51 9 0.15 intergenic HLA-DRB6 AU 0.0004 0 Uncertain 6_32546782_G->A 6 32546782 32546782 G A snp 1309.77 0/1 59 63 9 54 0.86 intergenic HLA-DRB6 AU 0.0794728 0.0764 0.0057 0 Uncertain 6_32546792_A->G 6 32546792 32546792 A G snp 30.77 0/1 59 63 54 9 0.14 intergenic HLA-DRB6 AU 0.0009 0 Uncertain 6_32546794_C->G 6 32546794 32546794 C G snp 33.77 0/1 62 63 54 9 0.14 intergenic HLA-DRB6 AU 0.0009 0 Uncertain 6_32546795_T->A 6 32546795 32546795 T A snp 1599.77 1/1 99 61 0 61 1.0 intergenic HLA-DRB6 AU 0.693291 0.6895 0.5394 0.4991 Uncertain 6_32546800_A->G 6 32546800 32546800 A G snp 1313.77 0/1 59 61 9 52 0.85 intergenic HLA-DRB6 AU 0.2098 0.1791 Uncertain 6_32546802_C->T 6 32546802 32546802 C T snp 1234.77 0/1 65 61 9 52 0.85 intergenic rs3180799 HLA-DRB6 AU 0.0120 0.0047 Uncertain 6_32546803_A->G 6 32546803 32546803 A G snp 1558.77 1/1 99 61 0 61 1.0 intergenic HLA-DRB6 AU 0.1696 0.1071 Uncertain 6_32546828_C->T 6 32546828 32546828 C T snp 2142.77 1/1 99 90 0 90 1.0 intergenic HLA-DRB6 AU 0.777955 0.7173 0.776033 0.7189 0.6255 Uncertain 6_32546833_C->A 6 32546833 32546833 C A snp 1907.94 0/1 14 94 8 86 0.91 intergenic HLA-DRB6 AU 0.0185 0.0162 Uncertain 6_32546838_A->G 6 32546838 32546838 A G snp 2245.77 1/1 99 95 0 95 1.0 intergenic HLA-DRB6 AU 0.3443 0.1952 Uncertain 6_32546843_T->C 6 32546843 32546843 T C snp 1877.9 0/1 15 97 8 89 0.92 intergenic HLA-DRB6 AU 0.017718 0.0044 0.0032 Uncertain 6_32546863_G->T 6 32546863 32546863 G T snp 2203.77 1/1 99 95 0 95 1.0 intergenic HLA-DRB6 AU 0.104034 0.0962 0.044636 0.0042 0.0046 Uncertain 6_32546866_T->C 6 32546866 32546866 T C snp 2243.77 1/1 99 93 0 93 1.0 intergenic HLA-DRB6 AU 0.695088 0.6944 0.634961 0.6108 0.6865 Uncertain 6_32546879_A->G 6 32546879 32546879 A G snp 1876.85 0/1 17 93 8 85 0.91 intergenic HLA-DRB6 AU 0.0738818 0.0694 0.038702 0.0048 0.0020 1 T 1.000 P -1.043 T 0.0 T 0.001 T Uncertain 6_32546912_-->G 6 32546912 32546912 - G indel 2762.73 1/1 99 63 0 63 1.0 intergenic HLA-DRB6 AU 0.0234 0.0149 Uncertain 6_32546914_C->T 6 32546914 32546914 C T snp 1624.77 1/1 99 60 0 60 1.0 intergenic HLA-DRB6 AU 0.0988419 0.0823 0.046216 0.0156 0.0088 Uncertain 6_32546931_T->C 6 32546931 32546931 T C snp 1446.77 1/1 99 51 0 51 1.0 intergenic HLA-DRB6 AU 0.10024 0.0833 0.0120 0.0091 Uncertain 6_32546935_T->C 6 32546935 32546935 T C snp 1329.77 1/1 99 48 0 48 1.0 intergenic HLA-DRB6 AU Uncertain 6_32546953_G->A 6 32546953 32546953 G A snp 985.77 1/1 75 37 0 37 1.0 intergenic HLA-DRB6 AU 0.676318 0.6855 Uncertain 6_32546986_G->C 6 32546986 32546986 G C snp 282.78 1/1 24 10 0 10 1.0 intergenic HLA-DRB6 AU 0.782748 0.7302 Uncertain 6_32546993_C->T 6 32546993 32546993 C T snp 56.74 1/1 6 2 0 2 1.0 intergenic HLA-DRB6 AU 0.0842652 0.0883 Uncertain 6_32546995_G->A 6 32546995 32546995 G A snp 46.74 1/1 6 2 0 2 1.0 intergenic HLA-DRB6 AU 0.0842652 0.0883 Uncertain 6_32548001_A->T 6 32548001 32548001 A T snp 127.03 1/1 12 10 3 7 0.7 intergenic HLA-DRB6 AU 0.0001 0.0004 Uncertain 6_32548011_T->G 6 32548011 32548011 T G snp 134.03 1/1 12 10 3 7 0.7 intergenic HLA-DRB6 AU 0.0095 0.0104 Uncertain 6_32548049_T->C 6 32548049 32548049 T C snp 83.77 0/1 99 22 13 9 0.41 intergenic HLA-DRB6 AU 0.0007 0.0009 1 D Uncertain 6_32548050_G->A 6 32548050 32548050 G A snp 419.28 1/1 9 22 1 21 0.95 intergenic HLA-DRB6 AU 0.0067 0.0047 Uncertain 6_32548053_A->G 6 32548053 32548053 A G snp 251.77 0/1 99 25 13 12 0.48 intergenic HLA-DRB6 AU 0.0016 0.0029 Uncertain 6_32548054_A->G 6 32548054 32548054 A G snp 114.77 0/1 99 26 14 12 0.46 intergenic HLA-DRB6 AU 0.0844649 0.0863 0.0096 0.0082 Uncertain 6_32548071_A->G 6 32548071 32548071 A G snp 286.77 0/1 99 33 22 11 0.33 intergenic HLA-DRB6 AU 0.0016 0.0027 Uncertain 6_32548072_C->T 6 32548072 32548072 C T snp 283.77 0/1 99 34 23 11 0.32 intergenic HLA-DRB6 AU 0.0003 0.0021 Uncertain 6_32548080_A->G 6 32548080 32548080 A G snp 275.77 0/1 99 37 26 11 0.3 intergenic HLA-DRB6 AU 0.0019 0.0033 Uncertain 6_32548082_T->A 6 32548082 32548082 T A snp 865.77 1/1 66 38 0 38 1.0 intergenic HLA-DRB6 AU 0.3409 0.4042 Uncertain 6_32548085_T->C 6 32548085 32548085 T C snp 274.77 0/1 99 39 28 11 0.28 intergenic HLA-DRB6 AU 0.0022 0.0041 Uncertain 6_32548086_T->G 6 32548086 32548086 T G snp 982.77 1/1 75 42 0 42 1.0 intergenic HLA-DRB6 AU 0.2831 0.3187 Uncertain 6_32548115_C->T 6 32548115 32548115 C T snp 426.77 0/1 99 72 48 24 0.33 intergenic HLA-DRB6 AU Uncertain 6_32548144_C->G 6 32548144 32548144 C G snp 385.77 0/1 99 70 42 28 0.4 intergenic HLA-DRB6 AU Uncertain 6_32548164_C->G 6 32548164 32548164 C G snp 394.77 0/1 99 66 24 42 0.64 intergenic HLA-DRB6 AU Uncertain 6_32548176_G->C 6 32548176 32548176 G C snp 372.77 0/1 99 62 44 18 0.29 intergenic HLA-DRB6 AU Uncertain 6_32548178_A->G 6 32548178 32548178 A G snp 1187.77 1/1 87 62 0 62 1.0 intergenic HLA-DRB6 AU Uncertain 6_32548197_T->C 6 32548197 32548197 T C snp 533.77 0/1 99 48 23 25 0.52 intergenic HLA-DRB6 AU Uncertain 6_32548212_C->G 6 32548212 32548212 C G snp 815.77 1/1 60 33 0 33 1.0 intergenic HLA-DRB6 AU Uncertain 6_32548216_A->T 6 32548216 32548216 A T snp 202.77 0/1 99 31 20 11 0.35 intergenic HLA-DRB6 AU Uncertain 6_32548217_G->A 6 32548217 32548217 G A snp 197.77 0/1 99 31 22 9 0.29 intergenic HLA-DRB6 AU Uncertain 6_32548227_C->T 6 32548227 32548227 C T snp 43.77 0/1 72 27 21 6 0.22 intergenic HLA-DRB6 AU Uncertain 6_32548229_G->C 6 32548229 32548229 G C snp 193.77 0/1 99 26 17 9 0.35 intergenic HLA-DRB6 AU Uncertain 6_32548244_C->G 6 32548244 32548244 C G snp 104.77 0/1 99 11 5 6 0.55 intergenic HLA-DRB6 AU Uncertain 6_32548470_G->T 6 32548470 32548470 G T snp 40.74 1/1 6 2 0 2 1.0 intergenic HLA-DRB6 AU Uncertain 6_32548488_C->T 6 32548488 32548488 C T snp 109.77 0/1 64 7 2 5 0.71 intergenic HLA-DRB6 AU 0.1873 0.2251 Uncertain 6_32548489_C->G 6 32548489 32548489 C G snp 35.77 0/1 64 7 5 2 0.29 intergenic HLA-DRB6 AU 0.2227 0.2550 Uncertain 6_32548505_C->T 6 32548505 32548505 C T snp 71.77 0/1 99 9 5 4 0.44 intergenic HLA-DRB6 AU 0.1047 0.1457 Uncertain 6_32548507_C->A 6 32548507 32548507 C A snp 243.8 1/1 21 9 0 9 1.0 intergenic HLA-DRB6 AU 0.6065 0.6887 Uncertain 6_32548509_C->G 6 32548509 32548509 C G snp 144.77 0/1 99 11 4 7 0.64 intergenic HLA-DRB6 AU 0.0914 0.1029 Uncertain 6_32548515_C->T 6 32548515 32548515 C T snp 243.77 0/1 99 18 10 8 0.44 intergenic HLA-DRB6 AU 0.1114 0.1496 Uncertain 6_32548522_C->G 6 32548522 32548522 C G snp 34.77 0/1 63 22 18 4 0.18 intergenic HLA-DRB6 AU 0.1063 0.1319 1 D Uncertain 6_32548544_T->G 6 32548544 32548544 T G snp 564.77 0/1 99 35 15 20 0.57 intergenic HLA-DRB6 AU 0.1980 0.2263 0 D 1.000 N -0.873 T 0.985 D 0.946 D Uncertain 6_32548545_G->A 6 32548545 32548545 G A snp 569.77 0/1 99 39 18 21 0.54 intergenic HLA-DRB6 AU 0.1974 0.2255 Uncertain 6_32548628_G->A 6 32548628 32548628 G A snp 966.77 0/1 99 93 37 56 0.6 intergenic HLA-DRB6 AU 0.1684 0.2108 0.02 T 0.993 N -0.836 T 0.998 D 0.547 D Uncertain 6_32548641_A->T 6 32548641 32548641 A T snp 874.77 0/1 99 90 44 46 0.51 intergenic HLA-DRB6 AU 0.1020 0.1001 Uncertain 6_32548661_G->T 6 32548661 32548661 G T snp 1682.77 1/1 90 79 1 78 0.99 intergenic rs28732283 HLA-DRB6 AU 0.2026 0.2287 Uncertain 6_32548667_T->C 6 32548667 32548667 T C snp 1425.77 1/1 75 65 1 64 0.98 intergenic HLA-DRB6 AU 0.267971 0.3065 0.1644 0.1787 Uncertain 6_32548668_C->T 6 32548668 32548668 C T snp 325.77 0/1 99 65 48 17 0.26 intergenic HLA-DRB6 AU Uncertain 6_32548669_C->T 6 32548669 32548669 C T snp 417.77 0/1 99 64 42 22 0.34 intergenic HLA-DRB6 AU 0.0484 0.0620 Uncertain 6_32548674_T->G 6 32548674 32548674 T G snp 398.77 0/1 99 61 39 22 0.36 intergenic HLA-DRB6 AU 0.1173 0.1414 Uncertain 6_32548681_T->C 6 32548681 32548681 T C snp 1230.77 1/1 93 48 0 48 1.0 intergenic HLA-DRB6 AU 0.827476 0.7887 0.7461 0.7408 Uncertain 6_32548683_T->G 6 32548683 32548683 T G snp 524.77 0/1 99 45 22 23 0.51 intergenic HLA-DRB6 AU 0.0768 0.0781 Uncertain 6_32548686_C->A 6 32548686 32548686 C A snp 1145.77 1/1 87 45 0 45 1.0 intergenic HLA-DRB6 AU Uncertain 6_32548691_G->C 6 32548691 32548691 G C snp 365.77 0/1 99 45 29 16 0.36 intergenic HLA-DRB6 AU Uncertain 6_32548693_C->T 6 32548693 32548693 C T snp 423.77 0/1 99 44 23 21 0.48 intergenic HLA-DRB6 AU Uncertain 6_32548694_T->A 6 32548694 32548694 T A snp 988.77 ./1 99 43 0 43 1.0 intergenic HLA-DRB6 AU Uncertain 6_32548694_T->C 6 32548694 32548694 T C snp 988.77 ./1 99 43 0 43 1.0 intergenic HLA-DRB6 AU Uncertain 6_32548697_A->G 6 32548697 32548697 A G snp 1016.77 1/1 48 43 1 42 0.98 intergenic HLA-DRB6 AU 0.26897 0.3065 Uncertain 6_32548703_T->C 6 32548703 32548703 T C snp 1087.77 1/1 84 43 0 43 1.0 intergenic HLA-DRB6 AU 0.85004 0.8373 Uncertain 6_32548722_C->A 6 32548722 32548722 C A snp 352.77 1/1 30 13 0 13 1.0 intergenic HLA-DRB6 AU Uncertain 6_32548727_A->G 6 32548727 32548727 A G snp 269.78 1/1 24 10 0 10 1.0 intergenic rs9269768 HLA-DRB6 AU 0.827077 0.7887 Uncertain 6_32548734_T->C 6 32548734 32548734 T C snp 140.9 1/1 15 6 0 6 1.0 intergenic rs9269771 HLA-DRB6 AU 0.766374 0.7173 Uncertain 6_32548735_C->T 6 32548735 32548735 C T snp 152.9 1/1 15 6 0 6 1.0 intergenic HLA-DRB6 AU Uncertain 6_32548736_A->G 6 32548736 32548736 A G snp 144.9 1/1 15 6 0 6 1.0 intergenic HLA-DRB6 AU Uncertain 6_32549141_A->T 6 32549141 32549141 A T snp 181.9 1/1 15 5 0 5 1.0 intergenic HLA-DRB6 AU Uncertain 6_32549147_C->A 6 32549147 32549147 C A snp 238.89 0/1 2 8 1 7 0.88 intergenic HLA-DRB6 AU Uncertain 6_32549151_T->C 6 32549151 32549151 T C snp 286.78 1/1 24 9 0 9 1.0 intergenic HLA-DRB6 AU Uncertain 6_32549157_A->G 6 32549157 32549157 A G snp 376.77 1/1 33 13 0 13 1.0 intergenic HLA-DRB6 AU Uncertain 6_32549178_C->G 6 32549178 32549178 C G snp 74.77 0/1 99 23 15 8 0.35 intergenic HLA-DRB6 AU Uncertain 6_32549179_A->T 6 32549179 32549179 A T snp 68.77 0/1 97 25 17 8 0.32 intergenic HLA-DRB6 AU Uncertain 6_32549180_C->A 6 32549180 32549180 C A snp 68.77 0/1 97 25 17 8 0.32 intergenic HLA-DRB6 AU Uncertain 6_32549181_C->T 6 32549181 32549181 C T snp 65.77 0/1 94 26 18 8 0.31 intergenic HLA-DRB6 AU Uncertain 6_32549192_C->T 6 32549192 32549192 C T snp 177.77 0/1 99 43 32 11 0.26 intergenic HLA-DRB6 AU Uncertain 6_32549193_-->CCCAGTAG 6 32549193 32549193 - CCCAGTAG indel 1800.73 0/1 99 39 20 19 0.49 intergenic HLA-DRB6 AU Uncertain 6_32549195_C->T 6 32549195 32549195 C T snp 140.77 0/1 99 53 37 16 0.3 intergenic HLA-DRB6 AU Uncertain 6_32549224_C->T 6 32549224 32549224 C T snp 445.77 0/1 99 91 65 26 0.29 intergenic HLA-DRB6 AU Uncertain 6_32549236_T->G 6 32549236 32549236 T G snp 2527.77 1/1 99 108 0 108 1.0 intergenic HLA-DRB6 AU 0.827476 0.7887 Uncertain 6_32549259_G->A 6 32549259 32549259 G A snp 2771.77 1/1 99 129 0 129 1.0 intergenic HLA-DRB6 AU 0.827476 0.7887 Uncertain 6_32549264_T->C 6 32549264 32549264 T C snp 374.77 0/1 99 131 91 40 0.31 intergenic HLA-DRB6 AU Uncertain 6_32549284_G->A 6 32549284 32549284 G A snp 2621.77 1/1 99 124 1 123 0.99 intergenic HLA-DRB6 AU 0.827476 0.7887 0.739531 0.7798 0.8096 Uncertain 6_32549289_C->T 6 32549289 32549289 C T snp 453.77 0/1 99 125 101 24 0.19 intergenic HLA-DRB6 AU 0.0061 0.0056 Uncertain 6_32549290_C->G 6 32549290 32549290 C G snp 422.77 0/1 99 125 101 24 0.19 intergenic HLA-DRB6 AU 0.0061 0.0057 Uncertain 6_32549292_T->A 6 32549292 32549292 T A snp 471.77 0/1 99 125 101 24 0.19 intergenic HLA-DRB6 AU 0.0060 0.0057 Uncertain 6_32549296_A->G 6 32549296 32549296 A G snp 1729.77 0/1 99 125 24 101 0.81 intergenic HLA-DRB6 AU 0.804113 0.7688 0.7465 0.7843 Uncertain 6_32549297_G->C 6 32549297 32549297 G C snp 456.77 0/1 99 125 101 24 0.19 intergenic HLA-DRB6 AU 0.0058 0.0055 Uncertain 6_32549305_G->A 6 32549305 32549305 G A snp 456.77 0/1 99 125 102 23 0.18 intergenic HLA-DRB6 AU 0.0058 0.0052 Uncertain 6_32549313_G->T 6 32549313 32549313 G T snp 1079.77 0/1 99 119 58 61 0.51 intergenic HLA-DRB6 AU 0.5488 0.5364 Uncertain 6_32549331_C->A 6 32549331 32549331 C A snp 1777.77 0/1 99 126 49 77 0.61 intergenic HLA-DRB6 AU 0.1214 0.1369 Uncertain 6_32549340_C->G 6 32549340 32549340 C G snp 1643.77 0/1 99 126 54 72 0.57 intergenic HLA-DRB6 AU 0.1150 0.1316 0.11 T 0.608 P -1.011 T 0.007 T 0.011 T Uncertain 6_32549344_T->C 6 32549344 32549344 T C snp 423.77 0/1 99 122 100 22 0.18 intergenic HLA-DRB6 AU 0.068187 0.1057 0.1068 Uncertain 6_32549351_G->A 6 32549351 32549351 G A snp 38.77 0/1 67 121 107 14 0.12 intergenic HLA-DRB6 AU 0.0257 0.0200 0 D 1.000 D -1.026 T 0.999 D 0.945 D Uncertain 6_32549356_T->C 6 32549356 32549356 T C snp 2366.77 1/1 99 106 0 106 1.0 intergenic HLA-DRB6 AU 0.2030 0.1796 Uncertain 6_32549357_G->A 6 32549357 32549357 G A snp 2384.77 1/1 99 105 0 105 1.0 intergenic HLA-DRB6 AU 0.1300 0.1416 0 D 1.000 N -0.977 T 0.758 T 0.298 P Uncertain 6_32549361_C->T 6 32549361 32549361 C T snp 1620.77 0/1 99 111 40 71 0.64 intergenic HLA-DRB6 AU 0.1188 0.1260 0.11 T 0.0 P -0.927 T 0.374 T 0.101 T Uncertain 6_32549362_G->A 6 32549362 32549362 G A snp 502.77 0/1 99 130 90 40 0.31 intergenic HLA-DRB6 AU 0.101238 0.0506 0.0619 0.0304 Uncertain 6_32549368_G->A 6 32549368 32549368 G A snp 1428.77 0/1 99 140 74 66 0.47 intergenic HLA-DRB6 AU 0.0927 0.0993 Uncertain 6_32549376_C->G 6 32549376 32549376 C G snp 310.77 0/1 99 154 124 30 0.19 intergenic HLA-DRB6 AU 0.0259 0.0245 0 D 0.997 D -0.421 T 1.0 D 0.995 D Uncertain 6_32549380_G->A 6 32549380 32549380 G A snp 338.77 0/1 99 158 126 32 0.2 intergenic HLA-DRB6 AU 0.0252 0.0237 Uncertain 6_32549392_C->T 6 32549392 32549392 C T snp 621.77 0/1 99 159 106 53 0.33 intergenic HLA-DRB6 AU 0.0229 0.0296 Uncertain 6_32549396_C->G 6 32549396 32549396 C G snp 397.77 0/1 99 156 123 33 0.21 intergenic HLA-DRB6 AU 0.0099 0.0108 0 D 0.998 D -1.121 T 0.999 D 0.979 D Uncertain 6_32549399_C->T 6 32549399 32549399 C T snp 391.77 0/1 99 158 125 33 0.21 intergenic HLA-DRB6 AU 0.0003 0.0001 0 D 0.727 D -1.133 T 0.907 T 0.702 P Uncertain 6_32549401_T->C 6 32549401 32549401 T C snp 3318.77 1/1 99 160 2 158 0.99 intergenic HLA-DRB6 AU 0.7502 0.7153 0.753675 0.8266 0.8363 Uncertain 6_32549402_C->T 6 32549402 32549402 C T snp 1115.77 0/1 99 163 102 61 0.37 intergenic HLA-DRB6 AU 0.1302 0.1542 1 T 0.999 N -0.953 T 0.025 T 0.003 T Uncertain 6_32549424_C->T 6 32549424 32549424 C T snp 813.77 0/1 99 217 176 41 0.19 intergenic HLA-DRB6 AU 0.1229 0.1447 0 D 0.952 D -1.113 T 1.0 D 0.998 D Uncertain 6_32549428_G->T 6 32549428 32549428 G T snp 837.77 0/1 99 226 182 44 0.19 intergenic HLA-DRB6 AU 0.1234 0.1459 Uncertain 6_32549475_T->C 6 32549475 32549475 T C snp 6762.77 1/1 99 250 0 250 1.0 intergenic HLA-DRB6 AU 0.781635 0.8417 0.8471 1 T 1 N -0.947 T 0.0 T 0.0 T Uncertain 6_32549497_G->A 6 32549497 32549497 G A snp 1118.77 0/1 99 250 194 56 0.22 intergenic HLA-DRB6 AU 0.4656 0.4973 Uncertain 6_32549501_A->C 6 32549501 32549501 A C snp 6717.77 ./1 99 250 0 250 1.0 intergenic HLA-DRB6 AU 0.819260 0.6409 0.6239 1 T 0.000 P -0.933 T 0.0 T 0.002 T Uncertain 6_32549501_A->T 6 32549501 32549501 A T snp 6717.77 ./1 99 250 0 250 1.0 intergenic HLA-DRB6 AU 0.2010 0.2243 0.01 T 1.000 N -0.995 T 0.527 P 0.127 P Uncertain 6_32549520_T->C 6 32549520 32549520 T C snp 1342.77 0/1 99 250 193 57 0.23 intergenic HLA-DRB6 AU 0.003199 0.0173 0.1269 0.15 T 1.000 N -0.969 T 0.917 T 0.967 D Uncertain 6_32549525_C->G 6 32549525 32549525 C G snp 1263.77 0/1 99 250 197 53 0.21 intergenic HLA-DRB6 AU 0.1756 0.2235 0 D 0.947 N -1.006 T 0.287 T 0.164 T Uncertain 6_32549531_T->C 6 32549531 32549531 T C snp 1157.77 0/1 99 250 199 51 0.2 intergenic HLA-DRB6 AU 0.1756 0.2238 0 D 0.997 D -1.111 T 1.0 D 1.0 D Uncertain 6_32549540_C->T 6 32549540 32549540 C T snp 1300.77 0/1 99 250 183 67 0.27 intergenic HLA-DRB6 AU 0.2044 0.2336 1 T 0.996 N -0.926 T 0.0 T 0.003 T Uncertain 6_32549581_G->A 6 32549581 32549581 G A snp 1452.77 0/1 99 250 185 65 0.26 intergenic HLA-DRB6 AU 0.0277 0.0330 Uncertain 6_32549582_G->T 6 32549582 32549582 G T snp 1089.77 0/1 99 248 190 58 0.23 intergenic HLA-DRB6 AU 0 D 0.976 N -1.113 T 0.999 D 0.998 D Uncertain 6_32549583_T->C 6 32549583 32549583 T C snp 1122.77 0/1 99 248 189 59 0.24 intergenic HLA-DRB6 AU 0.01 T 0.990 N -1.005 T 0.969 D 0.981 D Uncertain 6_32549584_C->T 6 32549584 32549584 C T snp 1118.77 0/1 99 247 189 58 0.23 intergenic HLA-DRB6 AU 8.623e-06 0 Uncertain 6_32549587_T->G 6 32549587 32549587 T G snp 1447.77 0/1 99 249 184 65 0.26 intergenic HLA-DRB6 AU 0.0246 0.0292 Uncertain 6_32549588_G->A 6 32549588 32549588 G A snp 824.77 0/1 99 249 207 42 0.17 intergenic HLA-DRB6 AU 0.1470 0.1738 0 D 1 N -0.913 T 0.071 T 0.079 T Uncertain 6_32549589_A->C 6 32549589 32549589 A C snp 1410.77 0/1 99 249 184 65 0.26 intergenic HLA-DRB6 AU 0.2805 0.2695 1 T 1 N -0.908 T 0.0 T 0.0 T Uncertain 6_32549596_T->C 6 32549596 32549596 T C snp 7493.77 1/1 99 250 1 249 1.0 intergenic HLA-DRB6 AU 0.827476 0.7887 0.841232 0.8416 0.8468 Uncertain 6_32549607_T->C 6 32549607 32549607 T C snp 1363.77 0/1 99 245 185 60 0.24 intergenic HLA-DRB6 AU 0.0202 0.0291 0.09 T 1 N -0.909 T 0.0 T 0.0 T Uncertain 6_32549611_T->A 6 32549611 32549611 T A snp 2565.77 0/1 99 243 144 99 0.41 intergenic HLA-DRB6 AU 0.5079 0.5553 0.37 T 0.0 P -0.903 T 0.0 T 0.0 T Uncertain 6_32549620_G->A 6 32549620 32549620 G A snp 778.77 0/1 99 247 206 41 0.17 intergenic HLA-DRB6 AU 0.1671 0.2033 Uncertain 6_32549625_A->G 6 32549625 32549625 A G snp 1321.77 0/1 99 242 179 63 0.26 intergenic HLA-DRB6 AU 0.0264 0.0143 Uncertain 6_32549631_C->- 6 32549631 32549631 C - indel 3233.06 1/1 99 235 17 218 0.93 intergenic rs757298489 HLA-DRB6 AU 0.0159 0.0083 Uncertain 6_32549636_A->T 6 32549636 32549636 A T snp 1676.77 0/1 99 236 159 77 0.33 intergenic HLA-DRB6 AU 0.1391 0.1875 Uncertain 6_32549649_G->T 6 32549649 32549649 G T snp 3003.77 0/1 99 225 110 115 0.51 intergenic HLA-DRB6 AU 0.4541 0.5209 Uncertain 6_32549655_C->- 6 32549655 32549655 C - indel 1939.73 0/1 99 218 159 59 0.27 intergenic HLA-DRB6 AU 0.0024 0.0017 Uncertain 6_32549669_T->A 6 32549669 32549669 T A snp 1107.77 0/1 99 192 146 46 0.24 intergenic HLA-DRB6 AU Uncertain 6_32549670_G->T 6 32549670 32549670 G T snp 5924.77 1/1 99 186 2 184 0.99 intergenic HLA-DRB6 AU Uncertain 6_32549675_G->T 6 32549675 32549675 G T snp 1184.77 0/1 99 179 96 83 0.46 intergenic HLA-DRB6 AU Uncertain 6_32549679_G->T 6 32549679 32549679 G T snp 707.77 0/1 99 166 133 33 0.2 intergenic HLA-DRB6 AU Uncertain 6_32549681_G->T 6 32549681 32549681 G T snp 5076.77 1/1 99 151 0 151 1.0 intergenic HLA-DRB6 AU 0.692492 0.7004 Uncertain 6_32549696_C->T 6 32549696 32549696 C T snp 2027.77 0/1 99 110 42 68 0.62 intergenic HLA-DRB6 AU Uncertain 6_32549702_C->T 6 32549702 32549702 C T snp 748.77 0/1 99 92 65 27 0.29 intergenic HLA-DRB6 AU Uncertain 6_32549711_G->A 6 32549711 32549711 G A snp 819.77 0/1 99 70 44 26 0.37 intergenic HLA-DRB6 AU Uncertain 6_32549718_C->G 6 32549718 32549718 C G snp 200.77 0/1 99 58 48 10 0.17 intergenic HLA-DRB6 AU Uncertain 6_32549722_G->A 6 32549722 32549722 G A snp 139.77 0/1 99 53 45 8 0.15 intergenic HLA-DRB6 AU Uncertain 6_32549726_A->C 6 32549726 32549726 A C snp 1610.77 1/1 99 43 0 43 1.0 intergenic HLA-DRB6 AU 0.759984 0.7639 Uncertain 6_32549727_T->C 6 32549727 32549727 T C snp 1440.77 1/1 99 40 0 40 1.0 intergenic HLA-DRB6 AU 0.759984 0.7639 Uncertain 6_32549729_G->A 6 32549729 32549729 G A snp 481.77 0/1 99 40 23 17 0.42 intergenic HLA-DRB6 AU Uncertain 6_32549746_A->G 6 32549746 32549746 A G snp 981.77 1/1 75 26 0 26 1.0 intergenic HLA-DRB6 AU 0.759585 0.7629 Uncertain 6_32549750_T->C 6 32549750 32549750 T C snp 508.77 0/1 99 22 6 16 0.73 intergenic HLA-DRB6 AU Uncertain 6_32549756_G->C 6 32549756 32549756 G C snp 108.77 0/1 99 20 15 5 0.25 intergenic HLA-DRB6 AU Uncertain 6_32549780_G->T 6 32549780 32549780 G T snp 31.77 0/1 31 3 1 2 0.67 intergenic HLA-DRB6 AU Uncertain 6_32549782_C->T 6 32549782 32549782 C T snp 45.74 1/1 6 2 0 2 1.0 intergenic HLA-DRB6 AU 0.759784 0.7639 Uncertain 6_32551752_T->A 6 32551752 32551752 T A snp 178.9 1/1 15 6 0 6 1.0 intergenic HLA-DRB6 AU Uncertain 6_32551754_T->G 6 32551754 32551754 T G snp 180.9 1/1 15 6 0 6 1.0 intergenic HLA-DRB6 AU Uncertain 6_32551765_TC->- 6 32551765 32551766 TC - indel 127.87 1/1 15 5 0 5 1.0 intergenic rs200565579 HLA-DRB6 AU Uncertain 6_32551769_C->T 6 32551769 32551769 C T snp 180.9 1/1 15 8 2 6 0.75 intergenic HLA-DRB6 AU Uncertain 6_32551785_G->C 6 32551785 32551785 G C snp 216.84 1/1 18 12 0 12 1.0 intergenic rs41285651 HLA-DRB6 AU 0.535144 0.5714 Uncertain 6_32551796_A->T 6 32551796 32551796 A T snp 178.9 1/1 15 12 3 9 0.75 intergenic HLA-DRB6 AU Uncertain 6_32551798_A->T 6 32551798 32551798 A T snp 172.9 1/1 15 12 3 9 0.75 intergenic HLA-DRB6 AU Uncertain 6_32551846_A->C 6 32551846 32551846 A C snp 1435.77 0/1 99 128 53 75 0.59 intergenic HLA-DRB6 AU 0.0159 0.0038 Uncertain 6_32551853_G->A 6 32551853 32551853 G A snp 4193.77 1/1 99 163 0 163 1.0 intergenic HLA-DRB6 AU 0.0783 0.0374 Uncertain 6_32551859_T->C 6 32551859 32551859 T C snp 2049.77 0/1 99 183 72 111 0.61 intergenic HLA-DRB6 AU 0.0082 0.0082 Uncertain 6_32551863_G->A 6 32551863 32551863 G A snp 1767.77 0/1 99 191 119 72 0.38 intergenic HLA-DRB6 AU 0.0283 0.0345 Uncertain 6_32551872_G->C 6 32551872 32551872 G C snp 4476.77 ./1 99 191 0 191 1.0 intergenic HLA-DRB6 AU 0.0431 0.0402 Uncertain 6_32551872_G->T 6 32551872 32551872 G T snp 4476.77 ./1 99 191 0 191 1.0 intergenic HLA-DRB6 AU 0.0035 0.0022 Uncertain 6_32551874_G->C 6 32551874 32551874 G C snp 4903.77 1/1 99 190 0 190 1.0 intergenic HLA-DRB6 AU 0.0483 0.0477 Uncertain 6_32551875_G->A 6 32551875 32551875 G A snp 2296.77 0/1 99 196 76 120 0.61 intergenic rs9279737 HLA-DRB6 AU 0.0072 0.0028 Uncertain 6_32551878_A->G 6 32551878 32551878 A G snp 1749.77 0/1 99 227 150 77 0.34 intergenic HLA-DRB6 AU 0.580471 0.502 0.0785 0.0632 Uncertain 6_32551885_C->T 6 32551885 32551885 C T snp 2056.77 0/1 99 243 159 84 0.35 intergenic HLA-DRB6 AU 0.0762 0.0885 1 D Uncertain 6_32551886_C->T 6 32551886 32551886 C T snp 2180.77 0/1 99 245 159 86 0.35 intergenic HLA-DRB6 AU 0.0782 0.0923 0.652 D -0.937 T 0.112 T 0.063 T Uncertain 6_32551905_G->T 6 32551905 32551905 G T snp 2561.77 0/1 99 250 144 106 0.42 intergenic HLA-DRB6 AU 0.0889 0.1278 0.05 T 1 N -1.057 T 0.011 T 0.023 T Uncertain 6_32551920_G->A 6 32551920 32551920 G A snp 2615.77 0/1 99 250 145 105 0.42 intergenic HLA-DRB6 AU 0.0901 0.1331 Uncertain 6_32551928_G->A 6 32551928 32551928 G A snp 3070.77 0/1 99 250 112 138 0.55 intergenic HLA-DRB6 AU 0.1158 0.1308 0.09 T 0.102 P -0.904 T 0.946 T 0.709 D ID=COSM4160966;OCCURENCE=1(thyroid) Uncertain 6_32551935_G->T 6 32551935 32551935 G T snp 2968.77 0/1 99 250 138 112 0.45 intergenic HLA-DRB6 AU 0.1326 0.1952 1 T 1 A Uncertain 6_32551939_G->T 6 32551939 32551939 G T snp 3107.77 0/1 99 250 138 112 0.45 intergenic HLA-DRB6 AU 0.1829 0.2532 0.18 T 0.996 N -0.993 T 0.0 T 0.002 T Uncertain 6_32551947_C->T 6 32551947 32551947 C T snp 3059.77 0/1 99 248 136 112 0.45 intergenic HLA-DRB6 AU 0.1319 0.1836 Uncertain 6_32551948_G->T 6 32551948 32551948 G T snp 7098.77 1/1 99 247 0 247 1.0 intergenic rs17886882 HLA-DRB6 AU 0.2848 0.4432 0.88 T 0.0 P -0.942 T 0.0 T 0.002 T Uncertain 6_32551957_G->C 6 32551957 32551957 G C snp 6582.77 ./1 99 244 1 243 1.0 intergenic HLA-DRB6 AU 0.2412 0.2708 0.02 T 1 N -0.937 T 0.009 T 0.053 T Uncertain 6_32551957_G->T 6 32551957 32551957 G T snp 6582.77 ./1 99 244 1 243 1.0 intergenic HLA-DRB6 AU 0.467734 0.2331 0.2276 0.11 T 0.0 P -0.985 T 0.009 T 0.037 T Uncertain 6_32551958_C->T 6 32551958 32551958 C T snp 6824.77 1/1 99 245 1 244 1.0 intergenic HLA-DRB6 AU 0.285364 0.5287 0.4803 0.05 T 0.0 P -1.009 T 0.024 T 0.058 T Uncertain 6_32551960_T->C 6 32551960 32551960 T C snp 2557.77 0/1 99 250 137 113 0.45 intergenic HLA-DRB6 AU 3.632e-05 0 0.37 T 1 N -0.994 T 0.0 T 0.0 T Uncertain 6_32551970_T->G 6 32551970 32551970 T G snp 2237.77 0/1 99 250 140 110 0.44 intergenic HLA-DRB6 AU 0.3465 0.3842 1 T 0.0 P -0.884 T 0.0 T 0.0 T Uncertain 6_32552016_C->A 6 32552016 32552016 C A snp 4256.77 0/1 99 250 79 171 0.68 intergenic HLA-DRB6 AU 0.2467 0.2961 Uncertain 6_32552026_C->T 6 32552026 32552026 C T snp 1482.77 0/1 99 246 171 75 0.3 intergenic HLA-DRB6 AU 0.0105 0.0119 0.02 T 1 N -0.932 T 0.999 D 0.991 D Uncertain 6_32552029_A->T 6 32552029 32552029 A T snp 1524.77 0/1 99 243 167 76 0.31 intergenic HLA-DRB6 AU 0.439297 0.4802 0.383590 0.3801 0.4295 1 T 0.0 P -0.969 T 0.0 T 0.0 T ID=CM033913;DIS=Sarcoidosis, susceptibility, association with;TAG=DP;PUB=14508706 DP Uncertain 6_32552039_C->G 6 32552039 32552039 C G snp 5404.77 ./1 99 221 2 219 0.99 intergenic HLA-DRB6 AU 0.0045 0.0031 0.07 T 0.664 N -0.867 T 0.969 D 0.978 D Uncertain 6_32552039_C->T 6 32552039 32552039 C T snp 5404.77 ./1 99 221 2 219 0.99 intergenic HLA-DRB6 AU 0.2255 0.2728 0.01 T 0.601 N -0.987 T 1.0 D 0.997 D Uncertain 6_32552043_G->A 6 32552043 32552043 G A snp 771.77 0/1 99 219 172 47 0.21 intergenic HLA-DRB6 AU 0.0078 0.0075 Uncertain 6_32552048_C->T 6 32552048 32552048 C T snp 5364.77 1/1 99 209 2 207 0.99 intergenic HLA-DRB6 AU 0.2222 0.2694 0.02 T 0.595 D -1.011 T 1.0 D 0.999 D Uncertain 6_32552050_A->T 6 32552050 32552050 A T snp 631.77 0/1 99 206 165 41 0.2 intergenic HLA-DRB6 AU 0.0077 0.0075 0.06 T 0.687 D -0.756 T 0.997 D 0.994 D Uncertain 6_32552056_A->G 6 32552056 32552056 A G snp 656.77 0/1 99 201 161 40 0.2 intergenic HLA-DRB6 AU 0.0074 0.0073 0.15 T 1 N -1.087 T 0.0 T 0.003 T Uncertain 6_32552059_G->T 6 32552059 32552059 G T snp 5060.77 1/1 99 199 0 199 1.0 intergenic HLA-DRB6 AU 0.695243 0.6076 0.5531 1 T 0.0 P -0.903 T 0.156 T 0.033 T Uncertain 6_32552067_C->T 6 32552067 32552067 C T snp 4783.77 1/1 99 188 1 187 0.99 intergenic HLA-DRB6 AU 0.503395 0.4583 0.461538 0.5022 0.5039 Uncertain 6_32552078_A->T 6 32552078 32552078 A T snp 550.77 0/1 99 167 132 35 0.21 intergenic HLA-DRB6 AU 0.0417 0.0159 0.42 T 1 N -1.007 T 0.001 T 0.003 T Uncertain 6_32552085_G->T 6 32552085 32552085 G T snp 2524.77 0/1 99 131 27 104 0.79 intergenic HLA-DRB6 AU 0.1780 0.1919 0.71 T 1 N -1.031 T 0.0 T 0.001 T Uncertain 6_32552086_T->A 6 32552086 32552086 T A snp 118.77 0/1 99 119 103 16 0.13 intergenic HLA-DRB6 AU 0.0047 0.0027 0.2 T 1 N -1.014 T 0.005 T 0.039 T Uncertain 6_32552087_C->A 6 32552087 32552087 C A snp 2850.77 ./1 99 117 0 117 1.0 intergenic HLA-DRB6 AU 0.1568 0.1955 0.01 T 1 N -0.987 T 0.911 T 0.692 D Uncertain 6_32552087_C->T 6 32552087 32552087 C T snp 2850.77 ./1 99 117 0 117 1.0 intergenic HLA-DRB6 AU 0.0037 0.0012 0.04 T 1 N -0.989 T 0.111 T 0.08 T Uncertain 6_32552092_A->T 6 32552092 32552092 A T snp 2996.77 1/1 99 114 0 114 1.0 intergenic HLA-DRB6 AU 0.289537 0.2609 0.2390 0.2376 0.4 T 0.0 P -1.068 T 0.0 T 0.004 T Uncertain 6_32552093_A->T 6 32552093 32552093 A T snp 70.77 0/1 99 114 99 15 0.13 intergenic HLA-DRB6 AU 0.0038 0.0011 0.01 T 1 N -0.995 T 0.336 T 0.116 T Uncertain 6_32552094_CCGCAC->- 6 32552094 32552099 CCGCAC - indel 7434.73 1/1 99 98 1 97 0.99 intergenic HLA-DRB6 AU 0.1479 0.1791 Uncertain 6_32552100_C->T 6 32552100 32552100 C T snp 112.77 0/1 99 115 99 16 0.14 intergenic HLA-DRB6 AU 0.0069 0.0042 Uncertain 6_32552117_A->G 6 32552117 32552117 A G snp 187.77 0/1 99 106 87 19 0.18 intergenic HLA-DRB6 AU 0.0051 0.0019 0.02 T 0.992 N -0.842 T 0.995 D 0.99 D Uncertain 6_32552130_C->A 6 32552130 32552130 C A snp 1437.77 1/1 99 54 0 54 1.0 intergenic HLA-DRB6 AU 0.2920 0.2089 0.77 T 1 N -1.027 T 0.0 T 0.016 T Uncertain 6_32552131_C->G 6 32552131 32552131 C G snp 1072.77 0/1 99 52 11 41 0.79 intergenic HLA-DRB6 AU 0.2235 0.1480 0.35 T 0.0 P -0.737 T 0.083 T 0.332 T Uncertain 6_32552132_T->A 6 32552132 32552132 T A snp 1374.77 1/1 99 51 0 51 1.0 intergenic HLA-DRB6 AU 0.2348 0.1492 0.16 T 1 N -0.943 T 0.914 T 0.903 D Uncertain 6_32552138_G->C 6 32552138 32552138 G C snp 1546.77 1/1 99 51 0 51 1.0 intergenic HLA-DRB6 AU 0.0193 0.0304 0.57 T 1 N -0.952 T 0.0 T 0.0 T Uncertain 6_32552143_C->T 6 32552143 32552143 C T snp 1497.77 1/1 99 51 1 50 0.98 intergenic HLA-DRB6 AU 0.694289 0.7004 0.0488 0.0679 0.08 T 1 A Uncertain 6_32552144_A->C 6 32552144 32552144 A C snp 1528.77 1/1 99 51 0 51 1.0 intergenic HLA-DRB6 AU 0.694289 0.7004 0.0353 0.0540 0.03 T 1 N -0.948 T 0.135 T 0.197 T Uncertain 6_32552147_G->A 6 32552147 32552147 G A snp 1478.77 1/1 99 51 0 51 1.0 intergenic HLA-DRB6 AU 0.0633 0.0736 Uncertain 6_32552172_C->G 6 32552172 32552172 C G snp 927.77 1/1 72 32 0 32 1.0 intergenic HLA-DRB6 AU 0.1759 0.0972 Uncertain 6_32552180_C->T 6 32552180 32552180 C T snp 49.77 0/1 78 17 14 3 0.18 intergenic HLA-DRB6 AU 0.0021 0.0036 Uncertain 6_32552183_-->C 6 32552183 32552183 - C indel 466.7 0/1 6 14 2 12 0.86 intergenic HLA-DRB6 AU 0.1327 0.0633 Uncertain 6_32552206_G->T 6 32552206 32552206 G T snp 242.8 1/1 21 11 0 11 1.0 intergenic HLA-DRB6 AU Uncertain 6_32552223_T->A 6 32552223 32552223 T A snp 123.9 1/1 15 8 0 8 1.0 intergenic HLA-DRB6 AU 0.128395 0.129 Uncertain 6_32552226_G->C 6 32552226 32552226 G C snp 143.9 1/1 15 7 0 7 1.0 intergenic HLA-DRB6 AU 0.128195 0.129 Uncertain 6_32552229_G->A 6 32552229 32552229 G A snp 134.9 1/1 15 7 0 7 1.0 intergenic HLA-DRB6 AU 0.122404 0.128 Uncertain 6_32552237_A->G 6 32552237 32552237 A G snp 140.9 1/1 15 7 0 7 1.0 intergenic HLA-DRB6 AU Uncertain 6_32557267_A->G 6 32557267 32557267 A G snp 49.74 1/1 6 2 0 2 1.0 intergenic rs9270281 HLA-DRB6 AU 0.760184 0.7669 Uncertain 6_32557271_A->T 6 32557271 32557271 A T snp 51.74 1/1 6 2 0 2 1.0 intergenic rs9270282 HLA-DRB6 AU 0.28135 0.3135 Uncertain 6_32557292_T->C 6 32557292 32557292 T C snp 77.77 0/1 99 8 5 3 0.38 intergenic rs28366214 HLA-DRB6 AU 0.114617 0.1627 Uncertain 6_32557310_T->C 6 32557310 32557310 T C snp 268.77 0/1 82 15 5 10 0.67 intergenic rs28366215 HLA-DRB6 AU 0.217053 0.2579 Uncertain 6_32557328_A->C 6 32557328 32557328 A C snp 459.77 0/1 65 31 10 21 0.68 intergenic rs28366217 HLA-DRB6 AU Uncertain 6_32557344_G->A 6 32557344 32557344 G A snp 30.77 0/1 59 40 26 14 0.35 intergenic rs17211001 HLA-DRB6 AU Uncertain 6_32557355_A->G 6 32557355 32557355 A G snp 30.77 0/1 59 47 37 10 0.21 intergenic HLA-DRB6 AU Uncertain 6_32557356_A->G 6 32557356 32557356 A G snp 62.77 0/1 91 48 37 11 0.23 intergenic HLA-DRB6 AU Uncertain 6_32557368_C->T 6 32557368 32557368 C T snp 604.77 0/1 99 64 31 33 0.52 intergenic rs200753731 HLA-DRB6 AU 0.0391374 0.1389 Uncertain 6_32557370_C->T 6 32557370 32557370 C T snp 229.77 0/1 99 67 53 14 0.21 intergenic rs34412168 HLA-DRB6 AU 0.0009 0.0006 Uncertain 6_32557374_A->T 6 32557374 32557374 A T snp 604.77 0/1 99 75 40 35 0.47 intergenic rs28366218 HLA-DRB6 AU 0.2447 0.2975 Uncertain 6_32557381_C->T 6 32557381 32557381 C T snp 232.77 0/1 99 85 65 20 0.24 intergenic HLA-DRB6 AU 0.0165 0.0129 Uncertain 6_32557382_C->G 6 32557382 32557382 C G snp 209.77 0/1 99 87 65 22 0.25 intergenic rs752006437 HLA-DRB6 AU 0.0141 0.0111 Uncertain 6_32557386_C->T 6 32557386 32557386 C T snp 257.77 0/1 99 91 69 22 0.24 intergenic rs373511931 HLA-DRB6 AU 0.0185 0.0144 Uncertain 6_32557388_A->G 6 32557388 32557388 A G snp 255.77 0/1 99 124 100 24 0.19 intergenic rs754627974 HLA-DRB6 AU 0.0152 0.0119 Uncertain 6_32557398_A->T 6 32557398 32557398 A T snp 337.77 0/1 99 152 128 24 0.16 intergenic rs35917994 HLA-DRB6 AU 0.00279553 0.003 0.0008 0.0004 Uncertain 6_32557402_C->A 6 32557402 32557402 C A snp 762.77 0/1 99 160 106 54 0.34 intergenic rs36032764 HLA-DRB6 AU 0.157348 0.1478 0.1396 0.1191 Uncertain 6_32557403_C->T 6 32557403 32557403 C T snp 285.77 0/1 99 161 138 23 0.14 intergenic rs34768224 HLA-DRB6 AU 0.00279553 0.003 0.0009 0.0005 Uncertain 6_32557405_G->A 6 32557405 32557405 G A snp 4027.77 1/1 99 165 0 165 1.0 intergenic rs9270296 HLA-DRB6 AU 0.645367 0.6786 0.6328 0.7060 Uncertain 6_32557408_A->G 6 32557408 32557408 A G snp 646.77 0/1 99 182 151 31 0.17 intergenic rs778583083 HLA-DRB6 AU 0.1383 0.1187 Uncertain 6_32557409_T->G 6 32557409 32557409 T G snp 635.77 0/1 99 181 150 31 0.17 intergenic rs752504047 HLA-DRB6 AU 0.0814 0.0856 Uncertain 6_32557418_A->G 6 32557418 32557418 A G snp 635.77 0/1 99 205 159 46 0.22 intergenic rs200079869 HLA-DRB6 AU 0.0636 0.0868 1 D Uncertain 6_32557419_C->G 6 32557419 32557419 C G snp 915.77 0/1 99 206 153 53 0.26 intergenic rs201278923 HLA-DRB6 AU 0.131989 0.0982 0.1408 0.1195 1 D Uncertain 6_32557422_C->T 6 32557422 32557422 C T snp 2176.77 0/1 99 215 103 112 0.52 intergenic rs17879746 HLA-DRB6 AU 0.128794 0.1518 0.1096 0.1599 0.34 T 1 N -1.028 T 0.001 T 0.0 T Uncertain 6_32557423_G->C 6 32557423 32557423 G C snp 905.77 0/1 99 218 172 46 0.21 intergenic rs9256943 HLA-DRB6 AU 0.0579073 0.0575 0.0843 0.0858 0.07 T 1 N -0.993 T 0.267 T 0.031 T Uncertain 6_32557435_A->C 6 32557435 32557435 A C snp 5762.77 1/1 99 241 0 241 1.0 intergenic rs9270299 HLA-DRB6 AU 0.852236 0.8373 0.8263 0.8518 1 T 0.0 P -0.979 T 0.0 T 0.0 T Uncertain 6_32557461_A->G 6 32557461 32557461 A G snp 957.77 0/1 99 250 196 54 0.22 intergenic rs35053532 HLA-DRB6 AU 0.0009 0 0.04 T 1.000 N -0.941 T 0.049 T 0.034 T Uncertain 6_32557465_G->A 6 32557465 32557465 G A snp 949.77 0/1 99 248 194 54 0.22 intergenic rs34187469 HLA-DRB6 AU 0.0111821 0.0099 0.0002 0 Uncertain 6_32557478_C->A 6 32557478 32557478 C A snp 2196.77 0/1 99 248 137 111 0.45 intergenic rs9270301 HLA-DRB6 AU 0.364018 0.4137 0.4570 0.4933 Uncertain 6_32557483_T->C 6 32557483 32557483 T C snp 5869.77 1/1 99 248 0 248 1.0 intergenic rs9270303 HLA-DRB6 AU 0.779153 0.7768 0.7683 0.8324 1 T 0.0 P -1.077 T 0.0 T 0.0 T Uncertain 6_32557487_G->A 6 32557487 32557487 G A snp 977.77 0/1 99 247 193 54 0.22 intergenic rs34396110 HLA-DRB6 AU 0.0026 0.0001 Uncertain 6_32557503_A->G 6 32557503 32557503 A G snp 819.77 0/1 99 240 189 51 0.21 intergenic rs201726340 HLA-DRB6 AU 0.0364 0.0524 0 D 1.000 N -1.040 T 0.859 T 0.624 P Uncertain 6_32557506_T->C 6 32557506 32557506 T C snp 1339.77 0/1 99 235 164 71 0.3 intergenic rs707953 HLA-DRB6 AU 0.482428 0.4613 0.4926 0.4987 0.76 T 1 N -1.039 T 0.001 T 0.003 T Uncertain 6_32557529_C->G 6 32557529 32557529 C G snp 867.77 0/1 99 184 138 46 0.25 intergenic rs1059547 HLA-DRB6 AU 0.0220 0.0184 Uncertain 6_32557531_G->T 6 32557531 32557531 G T snp 231.77 0/1 99 184 164 20 0.11 intergenic rs540570475 HLA-DRB6 AU 0.00958466 0.004 0.0003 0 Uncertain 6_32557536_G->A 6 32557536 32557536 G A snp 872.77 0/1 99 180 133 47 0.26 intergenic rs17211071 HLA-DRB6 AU 0.0004 0 Uncertain 6_32557538_A->T 6 32557538 32557538 A T snp 281.77 0/1 99 172 150 22 0.13 intergenic rs767298735 HLA-DRB6 AU 0.0003 0 Uncertain 6_32557543_G->T 6 32557543 32557543 G T snp 566.77 0/1 99 153 120 33 0.22 intergenic rs17211078 HLA-DRB6 AU 0.0011 0.0157 Uncertain 6_32557544_G->T 6 32557544 32557544 G T snp 1288.77 0/1 99 151 95 56 0.37 intergenic rs760558042 HLA-DRB6 AU 0.1288 0.0989 Uncertain 6_32557545_G->C 6 32557545 32557545 G C snp 311.77 0/1 99 148 127 21 0.14 intergenic rs766218985 HLA-DRB6 AU 0.0003 0 Uncertain 6_32557546_C->T 6 32557546 32557546 C T snp 447.77 0/1 99 143 115 28 0.2 intergenic rs17204737 HLA-DRB6 AU 5.346e-05 0 Uncertain 6_32557549_G->C 6 32557549 32557549 G C snp 482.77 0/1 99 138 110 28 0.2 intergenic rs17204744 HLA-DRB6 AU 3.333e-05 0 Uncertain 6_32557550_A->G 6 32557550 32557550 A G snp 1230.77 0/1 99 136 88 48 0.35 intergenic rs561980359 HLA-DRB6 AU 0.0648962 0.0417 0.0636 0.0470 Uncertain 6_32557552_A->G 6 32557552 32557552 A G snp 2840.77 ./1 99 132 0 132 1.0 intergenic rs1059546 HLA-DRB6 AU 0.294529 0.3046 0.1109 0.1983 Uncertain 6_32557552_A->T 6 32557552 32557552 A T snp 2840.77 ./1 99 132 0 132 1.0 intergenic rs1059546 HLA-DRB6 AU 0.0648962 0.0417 0.0526 0.0346 Uncertain 6_32557553_A->G 6 32557553 32557553 A G snp 300.77 0/1 99 131 111 20 0.15 intergenic rs749738288 HLA-DRB6 AU 0.0002 0 Uncertain 6_32557558_G->T 6 32557558 32557558 G T snp 298.77 0/1 99 127 107 20 0.16 intergenic rs747708806 HLA-DRB6 AU 0.0001 0 Uncertain 6_32557559_C->T 6 32557559 32557559 C T snp 639.77 0/1 99 127 93 34 0.27 intergenic rs28366220 HLA-DRB6 AU 0.0367412 0.1339 0.0422 0.1185 Uncertain 6_32557568_C->A 6 32557568 32557568 C A snp 425.77 0/1 99 115 89 26 0.23 intergenic rs17204758 HLA-DRB6 AU 1.536e-05 0 Uncertain 6_32557568_-->AT 6 32557568 32557568 - AT indel 1752.73 0/1 99 110 68 42 0.38 intergenic rs778557046 HLA-DRB6 AU 0.0136 0.0094 Uncertain 6_32557572_G->C 6 32557572 32557572 G C snp 724.77 0/1 99 94 65 29 0.31 intergenic HLA-DRB6 AU Uncertain 6_32557573_G->C 6 32557573 32557573 G C snp 370.77 0/1 99 92 76 16 0.17 intergenic HLA-DRB6 AU Uncertain 6_32557585_A->C 6 32557585 32557585 A C snp 971.77 0/1 99 43 8 35 0.81 intergenic rs17211091 HLA-DRB6 AU 0.393171 0.3601 Uncertain 6_32557588_-->T 6 32557588 32557588 - T indel 616.73 0/1 80 35 14 21 0.6 intergenic rs28383887 HLA-DRB6 AU Uncertain 6_32557598_C->T 6 32557598 32557598 C T snp 126.77 0/1 99 36 29 7 0.19 intergenic HLA-DRB6 AU Uncertain 6_32557602_C->T 6 32557602 32557602 C T snp 288.77 0/1 99 31 19 12 0.39 intergenic HLA-DRB6 AU Uncertain 6_32557614_G->A 6 32557614 32557614 G A snp 143.77 0/1 99 23 17 6 0.26 intergenic rs17204765 HLA-DRB6 AU 0.00119808 0.002 Uncertain 6_32557616_G->A 6 32557616 32557616 G A snp 216.77 0/1 99 22 12 10 0.45 intergenic rs28366223 HLA-DRB6 AU 0.108626 0.128 Uncertain 6_32557641_G->T 6 32557641 32557641 G T snp 108.77 0/1 99 13 9 4 0.31 intergenic rs17204779 HLA-DRB6 AU 0.00638978 0.004 Uncertain 6_32557643_G->A 6 32557643 32557643 G A snp 276.77 0/1 38 13 2 11 0.85 intergenic rs9270317 HLA-DRB6 AU 0.557907 0.5635 Uncertain 6_32557655_C->A 6 32557655 32557655 C A snp 111.77 0/1 99 11 5 6 0.55 intergenic rs9270318 HLA-DRB6 AU 0.437899 0.4474 Uncertain 6_32557668_C->G 6 32557668 32557668 C G snp 82.78 0/1 24 4 1 3 0.75 intergenic rs9270319 HLA-DRB6 AU 0.425319 0.4276 Uncertain 6_32605189_A->G 6 32605189 32605189 A G snp 56.74 1/1 6 2 0 2 1.0 UTR5 HLA-DQA1 AR,AO 0.398562 0.4524 0.322159 0.2914 0.3748 Uncertain 6_32605207_C->G 6 32605207 32605207 C G snp 248.8 1/1 21 7 0 7 1.0 UTR5 HLA-DQA1 AR,AO 0.540735 0.5149 0.485591 0.4556 0.4957 Uncertain 6_32605257_C->A 6 32605257 32605257 C A snp 941.77 1/1 72 34 0 34 1.0 exonic HLA-DQA1 AR,AO nonsynonymous SNV NM_002122 exon1 c.C22A p.L8M 0.471845 0.4345 0.498847 0.4954 0.4983 0.42 T 0.0 P -0.923 T 0.025 T 0.02 T Pathogenic 6_32605274_T->C 6 32605274 32605274 T C snp 1479.77 1/1 99 53 0 53 1.0 exonic HLA-DQA1 AR,AO synonymous SNV NM_002122 exon1 c.T39C p.A13A 0.560903 0.5446 0.524758 0.5620 0.6042 Uncertain 6_32605288_T->C 6 32605288 32605288 T C snp 1804.77 1/1 99 70 0 70 1.0 exonic HLA-DQA1 AR,AO nonsynonymous SNV NM_002122 exon1 c.T53C p.M18T 0.0423323 0.1498 0.006151 0.0208 0.1385 0.05 T 0.0 P -1.080 T 0.004 T 0.013 T Pathogenic 6_32605295_C->T 6 32605295 32605295 C T snp 1859.77 1/1 99 74 0 74 1.0 exonic HLA-DQA1 AR,AO synonymous SNV NM_002122 exon1 c.C60T p.P20P 0.33127 0.4087 0.303552 0.3322 0.4141 Uncertain 6_32605336_G->A 6 32605336 32605336 G A snp 2700.77 1/1 99 106 1 105 0.99 intronic HLA-DQA1 AR,AO NM_002122 exon1 c.82+19G>A 0.288339 0.3175 0.274146 0.3009 0.3592 Uncertain 6_32605380_T->G 6 32605380 32605380 T G snp 2790.77 1/1 99 110 1 109 0.99 intronic HLA-DQA1 AR,AO NM_002122 exon1 c.82+63T>G 0.555112 0.5417 Uncertain 6_32605400_C->T 6 32605400 32605400 C T snp 2565.77 1/1 99 100 0 100 1.0 intronic HLA-DQA1 AR,AO NM_002122 exon1 c.82+83C>T 0.551518 0.5417 Uncertain 6_32605418_G->A 6 32605418 32605418 G A snp 2035.77 1/1 99 77 0 77 1.0 intronic HLA-DQA1 AR,AO NM_002122 exon1 c.82+101G>A 0.298722 0.3224 Uncertain 6_32605419_G->C 6 32605419 32605419 G C snp 2111.77 1/1 99 77 0 77 1.0 intronic HLA-DQA1 AR,AO NM_002122 exon1 c.82+102G>C 0.298722 0.3224 Uncertain 6_32605437_C->G 6 32605437 32605437 C G snp 1721.77 1/1 99 63 0 63 1.0 intronic HLA-DQA1 AR,AO NM_002122 exon1 c.82+120C>G 0.542931 0.5347 Uncertain 6_32605501_C->G 6 32605501 32605501 C G snp 675.77 1/1 51 19 0 19 1.0 intronic HLA-DQA1 AR,AO NM_002122 exon1 c.82+184C>G 0.356829 0.4236 Uncertain 6_32605508_G->T 6 32605508 32605508 G T snp 512.77 1/1 39 14 0 14 1.0 intronic HLA-DQA1 AR,AO NM_002122 exon1 c.82+191G>T 0.364018 0.4246 Uncertain 6_32605525_C->T 6 32605525 32605525 C T snp 343.78 1/1 27 10 0 10 1.0 intronic HLA-DQA1 AR,AO NM_002122 exon1 c.82+208C>T 0.609225 0.6409 Uncertain 6_32605555_T->A 6 32605555 32605555 T A snp 50.74 1/1 6 2 0 2 1.0 intronic HLA-DQA1 AR,AO NM_002122 exon1 c.82+238T>A 0.175919 0.2758 Uncertain 6_32605558_G->A 6 32605558 32605558 G A snp 54.74 1/1 6 2 0 2 1.0 intronic HLA-DQA1 AR,AO NM_002122 exon1 c.82+241G>A 0.801318 0.7837 Uncertain 6_32606584_A->G 6 32606584 32606584 A G snp 133.03 1/1 12 4 0 4 1.0 intronic HLA-DQA1 AR,AO NM_002122 exon1 c.82+1267A>G 0.429113 0.4663 Uncertain 6_32606616_A->T 6 32606616 32606616 A T snp 222.84 1/1 18 6 0 6 1.0 intronic HLA-DQA1 AR,AO NM_002122 exon1 c.82+1299A>T 0.207069 0.3254 Uncertain 6_32606617_C->G 6 32606617 32606617 C G snp 254.8 1/1 21 7 0 7 1.0 intronic HLA-DQA1 AR,AO NM_002122 exon1 c.82+1300C>G 0.440895 0.4405 Uncertain 6_32606646_T->C 6 32606646 32606646 T C snp 448.77 1/1 36 17 0 17 1.0 intronic HLA-DQA1 AR,AO NM_002122 exon1 c.82+1329T>C 0.360423 0.378 0.2578 0.3704 Uncertain 6_32606665_C->T 6 32606665 32606665 C T snp 575.77 1/1 42 21 0 21 1.0 intronic HLA-DQA1 AR,AO NM_002122 exon1 c.82+1348C>T 0.504593 0.4524 0.3889 0.3929 Uncertain 6_32606732_G->A 6 32606732 32606732 G A snp 1316.77 1/1 93 52 0 52 1.0 intronic HLA-DQA1 AR,AO NM_002122 exon1 c.82+1415G>A 0.354034 0.3819 0.3554 0.4397 Uncertain 6_32606794_T->C 6 32606794 32606794 T C snp 1249.77 1/1 87 55 0 55 1.0 intronic rs28383359 HLA-DQA1 AR,AO NM_002122 exon1 c.82+1477T>C 0.457468 0.3968 0.3253 0.2935 Uncertain 6_32606809_T->C 6 32606809 32606809 T C snp 1232.77 1/1 87 53 0 53 1.0 intronic HLA-DQA1 AR,AO NM_002122 exon1 c.82+1492T>C 0.432308 0.4177 0.1524 0.1923 Uncertain 6_32606819_G->A 6 32606819 32606819 G A snp 1109.77 1/1 78 49 0 49 1.0 intronic HLA-DQA1 AR,AO NM_002122 exon1 c.82+1502G>A 0.29393 0.3601 Uncertain 6_32606834_A->C 6 32606834 32606834 A C snp 848.77 1/1 60 39 0 39 1.0 intronic HLA-DQA1 AR,AO NM_002122 exon1 c.82+1517A>C 0.413938 0.3948 Uncertain 6_32606846_G->A 6 32606846 32606846 G A snp 747.77 1/1 54 33 0 33 1.0 intronic HLA-DQA1 AR,AO NM_002122 exon1 c.82+1529G>A 0.297724 0.3155 Uncertain 6_32606864_T->C 6 32606864 32606864 T C snp 529.77 1/1 39 21 0 21 1.0 intronic HLA-DQA1 AR,AO NM_002122 exon1 c.82+1547T>C 0.286142 0.3075 Uncertain 6_32606868_T->C 6 32606868 32606868 T C snp 527.77 1/1 39 21 0 21 1.0 intronic HLA-DQA1 AR,AO NM_002122 exon1 c.82+1551T>C 0.286542 0.3085 Uncertain 6_32606885_G->T 6 32606885 32606885 G T snp 347.78 1/1 27 13 0 13 1.0 intronic HLA-DQA1 AR,AO NM_002122 exon1 c.82+1568G>T 0.51897 0.5 Uncertain 6_32608998_T->C 6 32608998 32608998 T C snp 54.74 1/1 6 2 0 2 1.0 intronic HLA-DQA1 AR,AO NM_002122 exon2 c.3851-88T>C 0.161142 0.2589 Uncertain 6_32609042_C->A 6 32609042 32609042 C A snp 174.9 1/1 15 5 0 5 1.0 intronic HLA-DQA1 AR,AO NM_002122 exon2 c.3851-44C>A 0.28135 0.3125 0.189549 0.2636 0.3287 Uncertain 6_32609056_C->T 6 32609056 32609056 C T snp 306.78 1/1 27 9 0 9 1.0 intronic HLA-DQA1 AR,AO NM_002122 exon2 c.3851-30C>T 0.200600 0.2664 0.3291 Uncertain 6_32609094_C->T 6 32609094 32609094 C T snp 364.77 1/1 30 17 0 17 1.0 exonic HLA-DQA1 AR,AO synonymous SNV NM_002122 exon2 c.C90T p.H30H 0.339058 0.4514 0.218408 0.3153 0.4764 1.0 P -1.021 T Likely benign 6_32609105_G->A 6 32609105 32609105 G A snp 406.77 1/1 33 18 0 18 1.0 exonic HLA-DQA1 AR,AO nonsynonymous SNV NM_002122 exon2 c.G101A p.C34Y 0.523163 0.4623 0.451201 0.5571 0.5856 1 T 0.0 P -0.963 T 0.004 T 0.015 T Pathogenic 6_32609106_T->C 6 32609106 32609106 T C snp 442.77 1/1 36 19 0 19 1.0 exonic HLA-DQA1 AR,AO synonymous SNV NM_002122 exon2 c.T102C p.C34C 0.235623 0.2014 0.102371 0.2517 0.3036 0.003 P -0.988 T Likely benign 6_32609126_T->C 6 32609126 32609126 T C snp 524.77 1/1 42 22 0 22 1.0 exonic HLA-DQA1 AR,AO nonsynonymous SNV NM_002122 exon2 c.T122C p.F41S 0.553115 0.5446 0.423047 0.5567 0.5858 0 D 0.008 P -1.059 T 0.001 T 0.005 T Pathogenic 6_32609130_C->T 6 32609130 32609130 C T snp 522.77 1/1 42 22 0 22 1.0 exonic HLA-DQA1 AR,AO synonymous SNV NM_002122 exon2 c.C126T p.Y42Y 0.0900559 0.1131 0.1539 0.2656 0.000 P -0.982 T Likely benign 6_32609142_C->G 6 32609142 32609142 C G snp 461.77 1/1 39 21 0 21 1.0 exonic HLA-DQA1 AR,AO synonymous SNV NM_002122 exon2 c.C138G p.G46G 0.1485 0.2568 1.000 P -1.022 T Likely benign 6_32609150_C->G 6 32609150 32609150 C G snp 518.77 1/1 42 20 0 20 1.0 exonic HLA-DQA1 AR,AO nonsynonymous SNV NM_002122 exon2 c.C146G p.T49S 0.1464 0.2530 0.12 T 0.0 P -0.936 T 0.053 T 0.041 T Pathogenic 6_32609169_T->C 6 32609169 32609169 T C snp 586.77 1/1 48 24 0 24 1.0 exonic HLA-DQA1 AR,AO synonymous SNV NM_002122 exon2 c.T165C p.D55D 0.322484 0.3442 0.2460 0.3614 1.000 P -1.026 T Likely benign 6_32609173_C->G 6 32609173 32609173 C G snp 690.77 1/1 57 27 0 27 1.0 exonic HLA-DQA1 AR,AO nonsynonymous SNV NM_002122 exon2 c.C169G p.Q57E 0.403355 0.4216 0.269842 0.3552 0.3930 0.4 T 0.0 P -1.036 T 0.007 T 0.027 T Pathogenic 6_32609181_C->T 6 32609181 32609181 C T snp 821.77 1/1 66 29 0 29 1.0 exonic HLA-DQA1 AR,AO synonymous SNV NM_002122 exon2 c.C177T p.Y59Y 0.1705 0.2414 1.000 P -1.015 T Likely benign 6_32609207_C->T 6 32609207 32609207 C T snp 962.77 1/1 75 34 0 34 1.0 exonic HLA-DQA1 AR,AO nonsynonymous SNV NM_002122 exon2 c.C203T p.A68V 0.3512 0.3785 1 T 0.001 P -0.923 T 0.007 T 0.004 T Pathogenic 6_32609213_G->A 6 32609213 32609213 G A snp 685.77 1/1 54 22 0 22 1.0 exonic HLA-DQA1 AR,AO nonsynonymous SNV NM_002122 exon2 c.G209A p.R70Q 0.198283 0.1925 0.107930 0.0749 0.0966 0.16 T 1 N -0.949 T 0.039 T 0.006 T Pathogenic 6_32609216_G->T 6 32609216 32609216 G T snp 767.77 1/1 60 22 0 22 1.0 exonic HLA-DQA1 AR,AO nonsynonymous SNV NM_002122 exon2 c.G212T p.W71L 0.46885 0.4276 0.3456 0.375 1 T 0.0 P -1.091 T 0.001 T 0.002 T Pathogenic 6_32609221_G->C 6 32609221 32609221 G C snp 726.77 1/1 57 21 0 21 1.0 exonic HLA-DQA1 AR,AO nonsynonymous SNV NM_002122 exon2 c.G217C p.E73Q 0.199681 0.1964 0.1102 0.1466 0.02 T 1 N -1.036 T 0.383 T 0.062 T Pathogenic 6_32609222_A->T 6 32609222 32609222 A T snp 731.77 1/1 57 21 0 21 1.0 exonic rs3208105 HLA-DQA1 AR,AO nonsynonymous SNV NM_002122 exon2 c.A218T p.E73V 0.465056 0.4246 0.1187 0.1559 0.29 T 1 N -1.022 T 0.0 T 0.0 T Pathogenic 6_32609227_A->C 6 32609227 32609227 A C snp 720.77 1/1 57 21 0 21 1.0 exonic HLA-DQA1 AR,AO nonsynonymous SNV NM_002122 exon2 c.A223C p.S75R 0.180711 0.1696 0.0744 0.0962 0.14 T 1 N -0.906 T 0.011 T 0.017 T Pathogenic 6_32609231_A->G 6 32609231 32609231 A G snp 733.77 1/1 57 21 0 21 1.0 exonic HLA-DQA1 AR,AO nonsynonymous SNV NM_002122 exon2 c.A227G p.K76R 0.180711 0.1696 0.0673 0.0844 0.93 T 1 N -1.003 T 0.0 T 0.002 T Pathogenic 6_32609236_G->A 6 32609236 32609236 G A snp 718.77 1/1 57 21 0 21 1.0 exonic rs4193 HLA-DQA1 AR,AO nonsynonymous SNV NM_002122 exon2 c.G232A p.G78R 0.445687 0.4058 0.2925 0.3183 0.33 T 1 N -0.819 T 0.02 T 0.07 T Pathogenic 6_32609239_G->A 6 32609239 32609239 G A snp 655.77 1/1 51 21 0 21 1.0 exonic rs12722072 HLA-DQA1 AR,AO nonsynonymous SNV NM_002122 exon2 c.G235A p.G79S 0.0960463 0.1389 0.0566 0.0872 1 T 1 N -0.941 T 0.008 T 0.017 T Pathogenic 6_32609241_T->A 6 32609241 32609241 T A snp 735.77 1/1 60 22 0 22 1.0 exonic HLA-DQA1 AR,AO synonymous SNV NM_002122 exon2 c.T237A p.G79G 0.0530 0.0799 1.000 D -0.946 T Likely benign 6_32609253_G->A 6 32609253 32609253 G A snp 787.77 1/1 63 25 0 25 1.0 exonic HLA-DQA1 AR,AO synonymous SNV NM_002122 exon2 c.G249A p.Q83Q 0.430511 0.3958 0.2198 0.2383 1.000 N -1.010 T Likely benign 6_32609254_G->T 6 32609254 32609254 G T snp 806.77 1/1 63 25 0 25 1.0 exonic HLA-DQA1 AR,AO nonsynonymous SNV NM_002122 exon2 c.G250T p.G84C 0.430511 0.3958 0.2188 0.2363 0 D 1 N -0.878 T 0.619 T 0.32 P Pathogenic 6_32609255_G->T 6 32609255 32609255 G T snp 770.77 1/1 60 25 0 25 1.0 exonic HLA-DQA1 AR,AO nonsynonymous SNV NM_002122 exon2 c.G251T p.G84V 0.430511 0.3958 0.2154 0.2331 0 D 1.000 N -0.755 T 0.677 T 0.224 P Pathogenic 6_32609264_G->C 6 32609264 32609264 G C snp 2036.77 1/1 99 74 0 74 1.0 exonic HLA-DQA1 AR,AO nonsynonymous SNV NM_002122 exon2 c.G260C p.R87T 0.1670 0.1837 0.42 T 0.0 P -0.967 T 0.439 T 0.306 T Pathogenic 6_32609271_G->C 6 32609271 32609271 G C snp 2230.77 1/1 99 79 0 79 1.0 exonic HLA-DQA1 AR,AO nonsynonymous SNV NM_002122 exon2 c.G267C p.M89I 0.1248 0.1399 1 T 1 N -0.951 T 0.001 T 0.005 T Pathogenic 6_32609278_G->C 6 32609278 32609278 G C snp 2381.77 1/1 99 83 0 83 1.0 exonic HLA-DQA1 AR,AO nonsynonymous SNV NM_002122 exon2 c.G274C p.A92P 0.31849 0.2708 0.0155 0.0136 0.32 T 1 N -1.073 T 0.846 T 0.525 P Pathogenic 6_32609279_C->T 6 32609279 32609279 C T snp 2442.77 1/1 99 85 0 85 1.0 exonic HLA-DQA1 AR,AO nonsynonymous SNV NM_002122 exon2 c.C275T p.A92V 0.31849 0.2708 0.0135 0.0129 0.45 T 1 N -1.119 T 0.005 T 0.005 T Pathogenic 6_32609286_C->T 6 32609286 32609286 C T snp 2772.77 1/1 99 100 0 100 1.0 exonic HLA-DQA1 AR,AO synonymous SNV NM_002122 exon2 c.C282T p.H94H 0.210314 0.0376 0.0293 0.000 P -1.032 T Likely benign 6_32609299_A->G 6 32609299 32609299 A G snp 2873.77 1/1 99 108 0 108 1.0 exonic rs1064944 HLA-DQA1 AR,AO nonsynonymous SNV NM_002122 exon2 c.A295G p.M99V 0.0057 0.0053 0.13 T 1 N -0.920 T 0.001 T 0.002 T Pathogenic 6_32609312_A->C 6 32609312 32609312 A C snp 3049.77 1/1 99 114 1 113 0.99 exonic HLA-DQA1 AR,AO nonsynonymous SNV NM_002122 exon2 c.A308C p.Y103S 0.435304 0.4147 0.217901 0.0125 0.0209 1 T 0.244 P -1.052 T 0.012 T 0.042 T Pathogenic 6_32609339_T->C 6 32609339 32609339 T C snp 2845.77 1/1 99 101 0 101 1.0 splicing HLA-DQA1 AR,AO NM_002122 exon2 c.4100+4T>C 0.0211661 0.0635 0.0001 0.0004 Pathogenic 6_32609341_C->T 6 32609341 32609341 C T snp 2823.77 1/1 99 101 0 101 1.0 splicing HLA-DQA1 AR,AO NM_002122 exon2 c.4100+6C>T 0.428714 0.4008 0.177208 0.0087 0.0048 Pathogenic 6_32609358_C->T 6 32609358 32609358 C T snp 2672.77 1/1 99 97 0 97 1.0 intronic HLA-DQA1 AR,AO NM_002122 exon2 c.4100+23C>T 0.186102 0.1855 0.0022 0.0009 Uncertain 6_32609366_T->- 6 32609366 32609366 T - indel 1523.73 1/1 99 92 0 92 1.0 intronic rs370263925 HLA-DQA1 AR,AO NM_002122 exon2 c.4100+31delT Uncertain 6_32609368_A->G 6 32609368 32609368 A G snp 1675.77 1/1 99 57 0 57 1.0 intronic HLA-DQA1 AR,AO NM_002122 exon2 c.4100+33A>G Uncertain 6_32609370_G->T 6 32609370 32609370 G T snp 1669.77 1/1 99 57 0 57 1.0 intronic HLA-DQA1 AR,AO NM_002122 exon2 c.4100+35G>T 0.299321 0.2867 1.309e-05 0 Uncertain 6_32609379_C->T 6 32609379 32609379 C T snp 1682.77 1/1 99 58 0 58 1.0 intronic HLA-DQA1 AR,AO NM_002122 exon2 c.4100+44C>T 0.535144 0.5238 0.188441 0.2195 0.2449 Uncertain 6_32609380_C->T 6 32609380 32609380 C T snp 1691.77 1/1 99 58 0 58 1.0 intronic HLA-DQA1 AR,AO NM_002122 exon2 c.4100+45C>T 0.176917 0.1716 0.0010 0.0006 Uncertain 6_32609387_G->A 6 32609387 32609387 G A snp 1546.77 1/1 99 58 0 58 1.0 intronic HLA-DQA1 AR,AO NM_002122 exon2 c.4100+52G>A 0.368011 0.3462 0.0049 0.0017 Uncertain 6_32609389_G->T 6 32609389 32609389 G T snp 1615.77 1/1 99 58 0 58 1.0 intronic HLA-DQA1 AR,AO NM_002122 exon2 c.4100+54G>T 0.368011 0.3462 Uncertain 6_32609404_C->T 6 32609404 32609404 C T snp 1608.77 1/1 99 56 0 56 1.0 intronic HLA-DQA1 AR,AO NM_002122 exon2 c.4100+69C>T Uncertain 6_32609427_T->C 6 32609427 32609427 T C snp 1140.77 1/1 84 36 0 36 1.0 intronic HLA-DQA1 AR,AO NM_002122 exon2 c.4100+92T>C Uncertain 6_32609453_C->T 6 32609453 32609453 C T snp 512.77 1/1 39 14 0 14 1.0 intronic HLA-DQA1 AR,AO NM_002122 exon2 c.4100+118C>T 0.0678914 0.0744 Uncertain 6_32609456_C->T 6 32609456 32609456 C T snp 394.77 1/1 30 11 0 11 1.0 intronic HLA-DQA1 AR,AO NM_002122 exon2 c.4100+121C>T 0.276558 0.2937 Uncertain 6_32609479_C->A 6 32609479 32609479 C A snp 222.84 1/1 18 6 0 6 1.0 intronic HLA-DQA1 AR,AO NM_002122 exon2 c.4100+144C>A 0.163738 0.251 Uncertain 6_32609480_A->G 6 32609480 32609480 A G snp 222.84 1/1 18 6 0 6 1.0 intronic HLA-DQA1 AR,AO NM_002122 exon2 c.4100+145A>G Uncertain 6_32609622_A->G 6 32609622 32609622 A G snp 48.74 1/1 6 3 0 3 1.0 intronic HLA-DQA1 AR,AO NM_002122 exon3 c.4513-126A>G Uncertain 6_32609634_A->G 6 32609634 32609634 A G snp 364.77 1/1 30 18 0 18 1.0 intronic HLA-DQA1 AR,AO NM_002122 exon3 c.4513-114A>G 0.286741 0.3313 Uncertain 6_32609645_T->C 6 32609645 32609645 T C snp 468.77 1/1 36 21 0 21 1.0 intronic HLA-DQA1 AR,AO NM_002122 exon3 c.4513-103T>C 0.287939 0.3323 Uncertain 6_32609647_T->G 6 32609647 32609647 T G snp 461.77 1/1 36 21 0 21 1.0 intronic HLA-DQA1 AR,AO NM_002122 exon3 c.4513-101T>G 0.287939 0.3323 Uncertain 6_32609652_T->A 6 32609652 32609652 T A snp 450.77 1/1 36 21 0 21 1.0 intronic HLA-DQA1 AR,AO NM_002122 exon3 c.4513-96T>A 0.303315 0.3442 Uncertain 6_32609654_G->A 6 32609654 32609654 G A snp 444.77 1/1 36 21 0 21 1.0 intronic HLA-DQA1 AR,AO NM_002122 exon3 c.4513-94G>A 0.303315 0.3442 Uncertain 6_32609655_T->G 6 32609655 32609655 T G snp 457.77 1/1 36 21 0 21 1.0 intronic HLA-DQA1 AR,AO NM_002122 exon3 c.4513-93T>G 0.303315 0.3442 Uncertain 6_32609671_G->A 6 32609671 32609671 G A snp 1467.77 1/1 99 60 0 60 1.0 intronic HLA-DQA1 AR,AO NM_002122 exon3 c.4513-77G>A 0.319688 0.3571 Uncertain 6_32609673_G->A 6 32609673 32609673 G A snp 1513.77 1/1 99 63 0 63 1.0 intronic HLA-DQA1 AR,AO NM_002122 exon3 c.4513-75G>A 0.319688 0.3571 Uncertain 6_32609696_-->GAAG 6 32609696 32609696 - GAAG indel 5048.73 1/1 99 69 0 69 1.0 intronic rs374819369 HLA-DQA1 AR,AO NM_002122 exon3 c.4513-52insGAAG 0.206869 0.3333 Uncertain 6_32609698_T->- 6 32609698 32609698 T - indel 2804.73 1/1 99 69 0 69 1.0 intronic HLA-DQA1 AR,AO NM_002122 exon3 c.4513-50delT 0.206869 0.3333 Uncertain 6_32609722_C->T 6 32609722 32609722 C T snp 3089.77 1/1 99 129 0 129 1.0 intronic HLA-DQA1 AR,AO NM_002122 exon3 c.4513-26C>T 0.179313 0.2897 0.149133 0.1769 0.2943 Uncertain 6_32609746_C->T 6 32609746 32609746 C T snp 3294.77 1/1 99 146 0 146 1.0 splicing HLA-DQA1 AR,AO NM_002122 exon3 c.4513-2C>T 0.301118 0.3393 0.277554 0.2846 0.3362 Pathogenic 6_32609813_T->C 6 32609813 32609813 T C snp 2525.77 1/1 99 116 0 116 1.0 exonic HLA-DQA1 AR,AO synonymous SNV NM_002122 exon3 c.T396C p.I132I 0.673722 0.7024 0.601066 0.6761 0.7347 1.000 P -1.055 T Likely benign 6_32609855_A->C 6 32609855 32609855 A C snp 1445.77 1/1 99 68 0 68 1.0 exonic HLA-DQA1 AR,AO synonymous SNV NM_002122 exon3 c.A438C p.T146T 0.275559 0.3046 0.0528 0.0573 1.000 P -0.999 T Likely benign 6_32609873_G->C 6 32609873 32609873 G C snp 1243.77 1/1 96 56 0 56 1.0 exonic HLA-DQA1 AR,AO nonsynonymous SNV NM_002122 exon3 c.G456C p.Q152H 0.544329 0.5188 0.5503 0.5549 1 T 0.0 P -1.011 T 0.0 T 0.0 T Pathogenic 6_32609965_C->A 6 32609965 32609965 C A snp 1632.77 1/1 87 62 1 61 0.98 exonic HLA-DQA1 AR,AO nonsynonymous SNV NM_002122 exon3 c.C548A p.A183D 0.0998403 0.2173 0.081870 0.0775 0.2203 0.46 T 0.002 P -1.034 T 0.002 T 0.004 T Pathogenic 6_32610008_C->T 6 32610008 32610008 C T snp 2350.77 1/1 99 89 0 89 1.0 exonic HLA-DQA1 AR,AO synonymous SNV NM_002122 exon3 c.C591T p.D197D 0.29393 0.3333 0.282934 0.2976 0.3548 1.000 P -1.030 T Likely benign 6_32610009_C->G 6 32610009 32610009 C G snp 2394.77 1/1 99 89 0 89 1.0 exonic HLA-DQA1 AR,AO nonsynonymous SNV NM_002122 exon3 c.C592G p.Q198E 0.29972 0.3304 0.391526 0.3438 0.4278 1 T 0.0 P -0.966 T 0.0 T 0.0 T Pathogenic 6_32610047_T->C 6 32610047 32610047 T C snp 2656.77 1/1 99 104 0 104 1.0 intronic HLA-DQA1 AR,AO NM_002122 exon3 c.4795+17T>C 0.55651 0.5417 0.482329 0.5683 0.6052 Uncertain 6_32610059_T->G 6 32610059 32610059 T G snp 2685.77 1/1 99 104 0 104 1.0 intronic HLA-DQA1 AR,AO NM_002122 exon3 c.4795+29T>G 0.557308 0.5446 0.509602 0.5705 0.6081 Uncertain 6_32610100_C->- 6 32610100 32610100 C - indel 3350.73 1/1 99 87 0 87 1.0 intronic HLA-DQA1 AR,AO NM_002122 exon3 c.4795+70delC 0.286542 0.3175 0.2443 0.3094 Uncertain 6_32610109_A->C 6 32610109 32610109 A C snp 1954.77 1/1 99 71 0 71 1.0 intronic HLA-DQA1 AR,AO NM_002122 exon3 c.4795+79A>C 0.55651 0.5446 0.5113 0.5610 Uncertain 6_32610134_G->A 6 32610134 32610134 G A snp 1327.77 1/1 99 42 0 42 1.0 intronic HLA-DQA1 AR,AO NM_002122 exon3 c.4795+104G>A 0.285743 0.3175 0.1545 0.2022 Uncertain 6_32610143_TC->- 6 32610143 32610144 TC - indel 1425.73 1/1 84 39 0 39 1.0 intronic rs373884000 HLA-DQA1 AR,AO NM_002122 exon3 c.4795+113_4795+114delTC 0.292332 0.3552 0.0072 0.0035 Uncertain 6_32610149_TCTCTT->- 6 32610149 32610154 TCTCTT - indel 2474.73 1/1 84 28 0 28 1.0 intronic rs371768816 HLA-DQA1 AR,AO NM_002122 exon3 c.4795+119_4795+124delTCTCTT 0.0043 0.0026 Uncertain 6_32610171_A->T 6 32610171 32610171 A T snp 764.77 1/1 57 24 0 24 1.0 intronic HLA-DQA1 AR,AO NM_002122 exon3 c.4795+141A>T 0.278554 0.3115 0.0141 0.006 Uncertain 6_32610178_A->C 6 32610178 32610178 A C snp 711.77 1/1 54 21 0 21 1.0 intronic HLA-DQA1 AR,AO NM_002122 exon3 c.4795+148A>C 0.0477 0.0233 Uncertain 6_32610186_G->C 6 32610186 32610186 G C snp 671.77 1/1 51 21 0 21 1.0 intronic HLA-DQA1 AR,AO NM_002122 exon3 c.4795+156G>C 0.0211 0.0082 Uncertain 6_32610196_G->A 6 32610196 32610196 G A snp 386.77 1/1 30 12 0 12 1.0 intronic HLA-DQA1 AR,AO NM_002122 exon3 c.4795+166G>A 0.277157 0.3105 0.0229 0.0109 Uncertain 6_32610201_T->A 6 32610201 32610201 T A snp 295.78 1/1 24 10 0 10 1.0 intronic HLA-DQA1 AR,AO NM_002122 exon3 c.4795+171T>A 0.276957 0.3105 0.0244 0.0142 Uncertain 6_32610214_T->C 6 32610214 32610214 T C snp 212.84 1/1 18 7 0 7 1.0 intronic HLA-DQA1 AR,AO NM_002122 exon4 c.5151-172T>C 0.321486 0.3403 0.0571 0.0368 Uncertain 6_32610220_A->G 6 32610220 32610220 A G snp 179.9 1/1 15 5 0 5 1.0 intronic HLA-DQA1 AR,AO NM_002122 exon4 c.5151-166A>G 0.321486 0.3403 Uncertain 6_32610227_T->C 6 32610227 32610227 T C snp 140.03 1/1 12 4 0 4 1.0 intronic HLA-DQA1 AR,AO NM_002122 exon4 c.5151-159T>C Uncertain 6_32610228_G->A 6 32610228 32610228 G A snp 140.03 1/1 12 4 0 4 1.0 intronic HLA-DQA1 AR,AO NM_002122 exon4 c.5151-158G>A Uncertain 6_32610246_T->G 6 32610246 32610246 T G snp 56.74 1/1 6 2 0 2 1.0 intronic HLA-DQA1 AR,AO NM_002122 exon4 c.5151-140T>G Uncertain 6_32610349_C->A 6 32610349 32610349 C A snp 222.84 1/1 18 7 0 7 1.0 intronic HLA-DQA1 AR,AO NM_002122 exon4 c.5151-37C>A 0.422724 0.5437 0.356923 0.4207 0.5155 Uncertain 6_32610401_G->A 6 32610401 32610401 G A snp 530.77 1/1 45 20 0 20 1.0 exonic HLA-DQA1 AR,AO nonsynonymous SNV NM_002122 exon4 c.G628A p.A210T 0.171526 0.2738 0.152880 0.1833 0.3051 0.7 T 0.000 P -0.927 T 0.001 T 0.011 T Pathogenic 6_32610403_C->A 6 32610403 32610403 C A snp 450.77 1/1 39 20 0 20 1.0 exonic HLA-DQA1 AR,AO synonymous SNV NM_002122 exon4 c.C630A p.A210A 0.287141 0.3175 0.270562 0.2901 0.3478 Uncertain 6_32610436_T->C 6 32610436 32610436 T C snp 805.77 1/1 63 31 0 31 1.0 exonic HLA-DQA1 AR,AO synonymous SNV NM_002122 exon4 c.T663C p.C221C 0.595248 0.6647 0.570057 0.6248 0.6945 Uncertain 6_32610461_A->G 6 32610461 32610461 A G snp 761.77 1/1 60 35 0 35 1.0 exonic HLA-DQA1 AR,AO nonsynonymous SNV NM_002122 exon4 c.A688G p.M230V 0.809305 0.8145 0.717097 0.8205 0.8278 1 T 0.0 P -0.981 T 0.0 T 0.0 T Pathogenic 6_32610478_C->G 6 32610478 32610478 C G snp 728.77 1/1 60 31 0 31 1.0 exonic HLA-DQA1 AR,AO synonymous SNV NM_002122 exon4 c.C705G p.G235G 0.26877 0.2966 0.2782 0.3229 Uncertain 6_32610481_T->C 6 32610481 32610481 T C snp 665.77 1/1 54 29 0 29 1.0 exonic HLA-DQA1 AR,AO synonymous SNV NM_002122 exon4 c.T708C p.T236T 0.26877 0.2966 0.2780 0.3232 Uncertain 6_32610487_C->G 6 32610487 32610487 C G snp 695.77 1/1 57 29 0 29 1.0 exonic HLA-DQA1 AR,AO nonsynonymous SNV NM_002122 exon4 c.C714G p.F238L 0.2779 0.3222 1 T 0.000 P -0.987 T 0.0 T 0.005 T Pathogenic 6_32610495_A->G 6 32610495 32610495 A G snp 697.77 1/1 57 29 0 29 1.0 exonic HLA-DQA1 AR,AO nonsynonymous SNV NM_002122 exon4 c.A722G p.Q241R 0.549321 0.5407 0.424893 0.5736 0.5962 0.8 T 0.0 P -0.961 T 0.0 T 0.002 T Pathogenic 6_32610535_A->C 6 32610535 32610535 A C snp 879.77 1/1 72 37 0 37 1.0 exonic HLA-DQA1 AR,AO synonymous SNV NM_002122 exon4 c.A762C p.P254P 0.636781 0.6438 0.468075 0.6281 0.6434 Uncertain 6_32610553_G->A 6 32610553 32610553 G A snp 919.77 1/1 75 37 0 37 1.0 UTR3 HLA-DQA1 AR,AO 0.211861 0.248 0.1705 0.1634 Uncertain 6_32610556_G->A 6 32610556 32610556 G A snp 826.77 1/1 66 37 0 37 1.0 UTR3 HLA-DQA1 AR,AO 0.211861 0.248 0.1703 0.1614 Uncertain 6_32610574_C->T 6 32610574 32610574 C T snp 589.85 1/1 17 31 1 30 0.97 intronic HLA-DQA1 AR,AO NM_002122 exon4 c.5326+13C>T 0.47484 0.4712 0.281430 0.2700 0.2840 Uncertain 6_32610576_G->T 6 32610576 32610576 G T snp 677.8 1/1 21 31 1 30 0.97 intronic HLA-DQA1 AR,AO NM_002122 exon4 c.5326+15G>T 0.47484 0.4712 0.2444 0.2601 Uncertain 6_32610581_C->G 6 32610581 32610581 C G snp 666.8 1/1 21 31 1 30 0.97 intronic HLA-DQA1 AR,AO NM_002122 exon4 c.5326+20C>G 0.47484 0.4712 0.2272 0.2345 Uncertain 6_32610584_T->C 6 32610584 32610584 T C snp 686.8 1/1 21 31 1 30 0.97 intronic HLA-DQA1 AR,AO NM_002122 exon4 c.5326+23T>C 0.47484 0.4712 0.2194 0.2302 Uncertain 6_32610591_G->T 6 32610591 32610591 G T snp 689.8 1/1 21 30 1 29 0.97 intronic HLA-DQA1 AR,AO NM_002122 exon4 c.5326+30G>T 0.21865 0.2609 0.1203 0.1119 Uncertain 6_32610594_AGTATGAA->- 6 32610594 32610601 AGTATGAA - indel 2543.73 0/1 35 25 1 24 0.96 intronic HLA-DQA1 AR,AO NM_002122 exon4 c.5326+33_5326+40delAGTATGAA 0.222843 0.2649 0.151633 0.1169 0.1104 Uncertain 6_32610620_G->A 6 32610620 32610620 G A snp 1565.77 1/1 80 71 2 69 0.97 intronic HLA-DQA1 AR,AO NM_002122 exon4 c.5326+59G>A 0.0001 0.0003 Uncertain 6_32610621_C->G 6 32610621 32610621 C G snp 1591.77 1/1 81 71 2 69 0.97 intronic rs9272816 HLA-DQA1 AR,AO NM_002122 exon4 c.5326+60C>G 6.154e-05 0 Uncertain 6_32610623_T->C 6 32610623 32610623 T C snp 1638.77 1/1 84 71 1 70 0.99 intronic HLA-DQA1 AR,AO NM_002122 exon4 c.5326+62T>C 2.112e-05 0 Uncertain 6_32610695_C->T 6 32610695 32610695 C T snp 2373.77 1/1 99 100 2 98 0.98 intronic HLA-DQA1 AR,AO NM_002122 exon5 c.5493-33C>T 0.351238 0.3562 0.0916 0.1384 Uncertain 6_32610704_T->C 6 32610704 32610704 T C snp 2525.77 1/1 99 99 0 99 1.0 intronic HLA-DQA1 AR,AO NM_002122 exon5 c.5493-24T>C 0.589457 0.631 0.4792 0.5031 Uncertain 6_32610718_C->T 6 32610718 32610718 C T snp 2400.77 1/1 99 101 2 99 0.98 intronic HLA-DQA1 AR,AO NM_002122 exon5 c.5493-10C>T 0.0386 0.0947 Uncertain 6_32610736_G->A 6 32610736 32610736 G A snp 2181.77 1/1 99 86 1 85 0.99 UTR3 HLA-DQA1 AR,AO 0.249601 0.2778 0.0123 0.0245 Uncertain 6_32610747_G->C 6 32610747 32610747 G C snp 1991.77 1/1 99 77 1 76 0.99 UTR3 HLA-DQA1 AR,AO 0.239417 0.2629 0.0108 0.0299 0.02 T 0.001 P -0.902 T Uncertain 6_32610751_A->G 6 32610751 32610751 A G snp 1988.77 1/1 99 75 1 74 0.99 UTR3 HLA-DQA1 AR,AO 0.239417 0.2629 0.0108 0.0342 Uncertain 6_32610757_A->G 6 32610757 32610757 A G snp 1915.77 1/1 99 70 0 70 1.0 UTR3 HLA-DQA1 AR,AO 0.657548 0.6627 0.3938 0.4486 Uncertain 6_32610769_A->C 6 32610769 32610769 A C snp 1901.77 1/1 99 63 0 63 1.0 UTR3 HLA-DQA1 AR,AO 0.65595 0.6607 0.3813 0.4038 Uncertain 6_32610806_T->C 6 32610806 32610806 T C snp 1906.77 1/1 99 57 1 56 0.98 UTR3 HLA-DQA1 AR,AO 0.213259 0.245 0.0022 0 Uncertain 6_32610809_C->T 6 32610809 32610809 C T snp 1804.77 1/1 99 54 1 53 0.98 UTR3 HLA-DQA1 AR,AO 0.210663 0.2401 0.0021 0 Uncertain 6_32610819_C->G 6 32610819 32610819 C G snp 1787.77 1/1 99 52 0 52 1.0 UTR3 HLA-DQA1 AR,AO 0.213658 0.244 0.0012 0 Uncertain 6_32610825_A->G 6 32610825 32610825 A G snp 1783.77 1/1 99 51 0 51 1.0 UTR3 HLA-DQA1 AR,AO 0.554313 0.5615 0.3913 0.2660 Uncertain 6_32610836_C->T 6 32610836 32610836 C T snp 1595.77 1/1 99 47 0 47 1.0 UTR3 HLA-DQA1 AR,AO 0.207468 0.2371 0.0003 0 Uncertain 6_32610848_-->CTTTTTT 6 32610848 32610848 - CTTTTTT indel 3176.71 1/1 99 42 0 42 1.0 UTR3 HLA-DQA1 AR,AO Uncertain 6_32610849_G->T 6 32610849 32610849 G T snp 1063.77 1/1 78 27 0 27 1.0 UTR3 HLA-DQA1 AR,AO Uncertain 6_32610850_G->T 6 32610850 32610850 G T snp 1072.77 1/1 78 27 0 27 1.0 UTR3 HLA-DQA1 AR,AO Uncertain 6_32610851_A->T 6 32610851 32610851 A T snp 1067.77 1/1 78 27 0 27 1.0 UTR3 HLA-DQA1 AR,AO Uncertain 6_32610860_G->T 6 32610860 32610860 G T snp 2435.77 1/1 99 86 0 86 1.0 UTR3 HLA-DQA1 AR,AO 0.186901 0.1994 0.0005 0 Uncertain 6_32610863_A->G 6 32610863 32610863 A G snp 2297.77 1/1 99 88 0 88 1.0 UTR3 HLA-DQA1 AR,AO 0.1873 0.2014 0.0004 0 Uncertain 6_32610892_A->G 6 32610892 32610892 A G snp 2852.77 1/1 99 110 0 110 1.0 UTR3 HLA-DQA1 AR,AO 0.385383 0.373 0.0001 0 Uncertain 6_32610893_C->A 6 32610893 32610893 C A snp 2803.77 1/1 99 110 1 109 0.99 UTR3 rs9272918 HLA-DQA1 AR,AO 0.385583 0.373 0.0001 0 Uncertain 6_32610915_T->- 6 32610915 32610915 T - indel 3083.73 1/1 99 115 3 112 0.97 UTR3 HLA-DQA1 AR,AO 0.0061 0 Uncertain 6_32610934_A->G 6 32610934 32610934 A G snp 2424.77 1/1 99 99 0 99 1.0 UTR3 HLA-DQA1 AR,AO 0.179912 0.1855 0 0 0.0 P Uncertain 6_32610935_A->G 6 32610935 32610935 A G snp 2542.77 1/1 99 100 0 100 1.0 UTR3 HLA-DQA1 AR,AO 0.371406 0.3482 0 0 0.0 P -1.088 T Uncertain 6_32610946_A->T 6 32610946 32610946 A T snp 2596.77 1/1 99 94 0 94 1.0 UTR3 HLA-DQA1 AR,AO 0.372005 0.3452 0 0 Uncertain 6_32610951_C->G 6 32610951 32610951 C G snp 2505.77 1/1 99 94 1 93 0.99 UTR3 HLA-DQA1 AR,AO 0.373003 0.3452 0 0 1 N -1.000 T Uncertain 6_32610968_A->G 6 32610968 32610968 A G snp 2054.77 1/1 99 75 1 74 0.99 UTR3 HLA-DQA1 AR,AO 0.190495 0.1935 0 0 0.0 P -1.011 T Uncertain 6_32610972_G->A 6 32610972 32610972 G A snp 2001.77 1/1 99 73 0 73 1.0 UTR3 HLA-DQA1 AR,AO 0.366414 0.3353 0 0 0.0 P -1.013 T Uncertain 6_32610994_C->A 6 32610994 32610994 C A snp 1566.77 1/1 99 54 0 54 1.0 UTR3 HLA-DQA1 AR,AO 0.251398 0.3155 Uncertain 6_32610997_C->G 6 32610997 32610997 C G snp 1539.77 1/1 99 54 0 54 1.0 UTR3 HLA-DQA1 AR,AO 0.183906 0.1905 Uncertain 6_32611012_A->T 6 32611012 32611012 A T snp 1309.77 1/1 96 42 0 42 1.0 UTR3 HLA-DQA1 AR,AO 0.377796 0.3482 0 0 Uncertain 6_32611029_T->C 6 32611029 32611029 T C snp 1091.77 1/1 81 30 0 30 1.0 UTR3 HLA-DQA1 AR,AO 0.380391 0.3562 Uncertain 6_32611034_T->A 6 32611034 32611034 T A snp 928.77 1/1 72 26 0 26 1.0 UTR3 HLA-DQA1 AR,AO 0.187899 0.2093 Uncertain 6_32611056_C->T 6 32611056 32611056 C T snp 563.77 1/1 42 15 0 15 1.0 UTR3 HLA-DQA1 AR,AO 0.107029 0.1766 Uncertain 6_32611068_A->G 6 32611068 32611068 A G snp 475.77 1/1 39 14 0 14 1.0 UTR3 HLA-DQA1 AR,AO 0.184704 0.2073 Uncertain 6_32611081_A->C 6 32611081 32611081 A C snp 342.78 1/1 27 9 0 9 1.0 UTR3 HLA-DQA1 AR,AO 0.183906 0.2054 Uncertain 6_32611092_T->G 6 32611092 32611092 T G snp 212.84 1/1 18 6 0 6 1.0 UTR3 HLA-DQA1 AR,AO 0.357029 0.3403 Uncertain 6_32611098_G->T 6 32611098 32611098 G T snp 96.28 1/1 9 3 0 3 1.0 UTR3 HLA-DQA1 AR,AO 0.104832 0.1706 Uncertain 6_32611100_G->A 6 32611100 32611100 G A snp 94.28 1/1 9 3 0 3 1.0 UTR3 HLA-DQA1 AR,AO 0.0315495 0.0139 Uncertain 6_32611101_T->C 6 32611101 32611101 T C snp 96.28 1/1 9 3 0 3 1.0 UTR3 rs707945 HLA-DQA1 AR,AO Uncertain 6_32611107_T->C 6 32611107 32611107 T C snp 99.28 1/1 9 3 0 3 1.0 UTR3 HLA-DQA1 AR,AO 0.354034 0.3304 Uncertain 6_32611117_T->G 6 32611117 32611117 T G snp 54.74 1/1 6 2 0 2 1.0 UTR3 HLA-DQA1 AR,AO 0.350639 0.3234 Uncertain 6_32627777_G->C 6 32627777 32627777 G C snp 56.74 1/1 6 2 0 2 1.0 UTR3 HLA-DQB1 AR,AD,AO 0.213458 0.2837 Uncertain 6_32627795_A->G 6 32627795 32627795 A G snp 141.03 1/1 12 4 0 4 1.0 UTR3 HLA-DQB1 AR,AD,AO 0.454073 0.5109 Uncertain 6_32627833_A->G 6 32627833 32627833 A G snp 309.78 1/1 24 10 0 10 1.0 UTR3 rs1770 HLA-DQB1 AR,AD,AO 0.352236 0.3591 Uncertain 6_32627844_G->T 6 32627844 32627844 G T snp 314.78 1/1 24 10 0 10 1.0 UTR3 HLA-DQB1 AR,AD,AO Uncertain 6_32627845_-->A 6 32627845 32627845 - A indel 416.74 1/1 30 10 0 10 1.0 UTR3 HLA-DQB1 AR,AD,AO Uncertain 6_32627850_T->C 6 32627850 32627850 T C snp 314.78 1/1 24 10 0 10 1.0 UTR3 rs3210176 HLA-DQB1 AR,AD,AO 0.267372 0.2837 Uncertain 6_32627852_G->A 6 32627852 32627852 G A snp 338.78 1/1 27 11 0 11 1.0 UTR3 rs1130420 HLA-DQB1 AR,AD,AO 0.301318 0.2986 Uncertain 6_32627906_T->C 6 32627906 32627906 T C snp 997.77 1/1 72 34 0 34 1.0 UTR3 rs1063349 HLA-DQB1 AR,AD,AO 0.535942 0.5179 Uncertain 6_32627914_A->- 6 32627914 32627914 A - indel 1545.73 1/1 99 35 0 35 1.0 UTR3 rs3842708 HLA-DQB1 AR,AD,AO Uncertain 6_32627923_A->G 6 32627923 32627923 A G snp 1063.77 1/1 78 39 0 39 1.0 UTR3 rs1063348 HLA-DQB1 AR,AD,AO 0.534345 0.5169 Uncertain 6_32627956_C->G 6 32627956 32627956 C G snp 1228.77 1/1 87 46 0 46 1.0 UTR3 rs1063347 HLA-DQB1 AR,AD,AO 0.718251 0.7401 Uncertain 6_32627958_T->C 6 32627958 32627958 T C snp 1262.77 1/1 90 48 0 48 1.0 UTR3 rs7656 HLA-DQB1 AR,AD,AO 0.888578 0.9415 0.740489 Uncertain 6_32627967_A->G 6 32627967 32627967 A G snp 1295.77 1/1 93 48 0 48 1.0 UTR3 rs1063346 HLA-DQB1 AR,AD,AO 0.476238 0.4802 0.1395 0.1420 Uncertain 6_32627969_C->T 6 32627969 32627969 C T snp 1287.77 1/1 93 49 0 49 1.0 UTR3 rs3204428 HLA-DQB1 AR,AD,AO 0.476238 0.4802 0.1408 0.1423 Uncertain 6_32627976_G->A 6 32627976 32627976 G A snp 1313.77 1/1 93 50 0 50 1.0 UTR3 rs1063345 HLA-DQB1 AR,AD,AO 0.485423 0.4861 0.1552 0.1611 Uncertain 6_32627992_T->C 6 32627992 32627992 T C snp 1423.77 1/1 99 52 0 52 1.0 UTR3 rs1063343 HLA-DQB1 AR,AD,AO 0.489417 0.4901 0.306850 0.1527 0.1588 Uncertain 6_32628022_A->G 6 32628022 32628022 A G snp 1380.77 1/1 99 51 0 51 1.0 exonic rs1140347 HLA-DQB1 AR,AD,AO synonymous SNV NM_002123 exon5 c.T777C p.L259L 0.1544 0.1632 Uncertain 6_32628030_G->A 6 32628030 32628030 G A snp 1351.77 1/1 96 49 0 49 1.0 splicing rs9273471 HLA-DQB1 AR,AD,AO NM_001243961 exon1 c.14+4G>A 0.368011 0.3611 0.0539 0.0487 Pathogenic 6_32628045_C->G 6 32628045 32628045 C G snp 1115.77 1/1 81 39 0 39 1.0 intronic rs9273472 HLA-DQB1 AR,AD,AO NM_001243961 exon1 c.14+19C>G 0.747204 0.7688 0.502112 0.5371 0.6947 Uncertain 6_32628046_A->G 6 32628046 32628046 A G snp 1069.77 1/1 78 38 0 38 1.0 intronic HLA-DQB1 AR,AD,AO NM_001243961 exon1 c.14+20A>G 0.1382 0.1422 Uncertain 6_32628047_T->A 6 32628047 32628047 T A snp 1046.77 1/1 75 38 0 38 1.0 intronic HLA-DQB1 AR,AD,AO NM_001243961 exon1 c.14+21T>A 0.1358 0.1416 Uncertain 6_32628064_T->C 6 32628064 32628064 T C snp 964.77 1/1 72 33 0 33 1.0 intronic rs767637544 HLA-DQB1 AR,AD,AO NM_001243961 exon1 c.14+38T>C 0.1059 0.1030 Uncertain 6_32628065_C->G 6 32628065 32628065 C G snp 948.77 1/1 69 31 0 31 1.0 intronic rs281864453 HLA-DQB1 AR,AD,AO NM_001243961 exon1 c.14+39C>G 0.567093 0.6319 0.046292 0.2027 0.4489 Uncertain 6_32628079_C->A 6 32628079 32628079 C A snp 839.77 1/1 63 29 0 29 1.0 intronic rs9273477 HLA-DQB1 AR,AD,AO NM_001243961 exon1 c.14+53C>A 0.186502 0.253 Uncertain 6_32628093_T->C 6 32628093 32628093 T C snp 638.77 1/1 48 24 0 24 1.0 intronic rs9273479 HLA-DQB1 AR,AD,AO NM_001243961 exon1 c.14+67T>C 0.575879 0.6438 Uncertain 6_32628127_T->C 6 32628127 32628127 T C snp 423.77 1/1 33 14 0 14 1.0 intronic rs9273482 HLA-DQB1 AR,AD,AO NM_001243961 exon1 c.14+101T>C 0.519569 0.5 Uncertain 6_32628138_G->A 6 32628138 32628138 G A snp 307.78 1/1 24 11 0 11 1.0 intronic rs9273483 HLA-DQB1 AR,AD,AO NM_001243961 exon1 c.14+112G>A 0.521565 0.496 Uncertain 6_32628139_G->A 6 32628139 32628139 G A snp 349.78 1/1 27 10 0 10 1.0 intronic rs9273484 HLA-DQB1 AR,AD,AO NM_001243961 exon1 c.14+113G>A Uncertain 6_32628146_G->A 6 32628146 32628146 G A snp 309.78 1/1 24 9 0 9 1.0 intronic rs2647082 HLA-DQB1 AR,AD,AO NM_001243961 exon1 c.14+120G>A 0.347444 0.4236 Uncertain 6_32628149_A->G 6 32628149 32628149 A G snp 269.8 1/1 21 8 0 8 1.0 intronic rs9273487 HLA-DQB1 AR,AD,AO NM_001243961 exon1 c.14+123A>G 0.217053 0.256 Uncertain 6_32628159_C->G 6 32628159 32628159 C G snp 242.8 1/1 21 8 0 8 1.0 intronic rs9273488 HLA-DQB1 AR,AD,AO NM_001243961 exon1 c.14+133C>G 0.179513 0.2579 Uncertain 6_32628420_C->T 6 32628420 32628420 C T snp 298.78 1/1 24 8 0 8 1.0 intronic rs9273505 HLA-DQB1 AR,AD,AO NM_001243961 exon2 c.623-215C>T 0.389976 0.4692 Uncertain 6_32628439_G->A 6 32628439 32628439 G A snp 469.77 1/1 36 12 0 12 1.0 intronic rs9273508 HLA-DQB1 AR,AD,AO NM_001243961 exon2 c.623-196G>A 0.379593 0.3512 Uncertain 6_32628473_T->C 6 32628473 32628473 T C snp 782.77 1/1 57 24 0 24 1.0 intronic rs9273509 HLA-DQB1 AR,AD,AO NM_001243961 exon2 c.623-162T>C 0.60623 0.6448 Uncertain 6_32628474_G->C 6 32628474 32628474 G C snp 776.77 1/1 57 24 0 24 1.0 intronic rs9273510 HLA-DQB1 AR,AD,AO NM_001243961 exon2 c.623-161G>C 0.60623 0.6448 Uncertain 6_32628505_T->G 6 32628505 32628505 T G snp 1292.77 1/1 93 40 0 40 1.0 intronic rs9273511 HLA-DQB1 AR,AD,AO NM_001243961 exon2 c.623-130T>G Uncertain 6_32628506_C->A 6 32628506 32628506 C A snp 1324.77 1/1 96 41 0 41 1.0 intronic rs9273513 HLA-DQB1 AR,AD,AO NM_001243961 exon2 c.623-129C>A 0.195088 0.252 Uncertain 6_32628538_G->T 6 32628538 32628538 G T snp 2409.77 1/1 99 77 0 77 1.0 intronic rs9273514 HLA-DQB1 AR,AD,AO NM_001243961 exon2 c.623-97G>T 0.502396 0.4633 Uncertain 6_32628539_G->A 6 32628539 32628539 G A snp 2373.77 1/1 99 78 1 77 0.99 intronic rs9273515 HLA-DQB1 AR,AD,AO NM_001243961 exon2 c.623-96G>A 0.502396 0.4633 Uncertain 6_32628549_T->G 6 32628549 32628549 T G snp 2421.77 1/1 99 77 0 77 1.0 intronic rs760653904 HLA-DQB1 AR,AD,AO NM_001243961 exon2 c.623-86T>G Uncertain 6_32628550_G->A 6 32628550 32628550 G A snp 2401.77 1/1 99 78 0 78 1.0 intronic rs9273516 HLA-DQB1 AR,AD,AO NM_001243961 exon2 c.623-85G>A Uncertain 6_32628556_C->T 6 32628556 32628556 C T snp 2554.77 1/1 99 86 0 86 1.0 intronic rs9273518 HLA-DQB1 AR,AD,AO NM_001243961 exon2 c.623-79C>T Uncertain 6_32628568_A->G 6 32628568 32628568 A G snp 2995.77 1/1 99 101 0 101 1.0 intronic rs9273522 HLA-DQB1 AR,AD,AO NM_001243961 exon2 c.623-67A>G Uncertain 6_32628571_C->T 6 32628571 32628571 C T snp 3093.77 1/1 99 104 0 104 1.0 intronic rs9273523 HLA-DQB1 AR,AD,AO NM_001243961 exon2 c.623-64C>T 0.180911 0.2341 Uncertain 6_32628595_T->C 6 32628595 32628595 T C snp 3626.77 1/1 99 122 0 122 1.0 intronic rs9273524 HLA-DQB1 AR,AD,AO NM_001243961 exon2 c.623-40T>C 0.541134 0.5198 0.5586 0.5769 Uncertain 6_32628605_T->C 6 32628605 32628605 T C snp 3802.77 1/1 99 133 0 133 1.0 intronic rs9273525 HLA-DQB1 AR,AD,AO NM_001243961 exon2 c.623-30T>C 0.201078 0.2679 0.1825 0.2727 Uncertain 6_32628617_A->C 6 32628617 32628617 A C snp 3948.77 1/1 99 142 0 142 1.0 intronic rs9273526 HLA-DQB1 AR,AD,AO NM_001243961 exon2 c.623-18A>C 0.203674 0.2728 0.1691 0.2606 Uncertain 6_32628633_T->C 6 32628633 32628633 T C snp 4611.77 1/1 99 169 0 169 1.0 intronic rs9273528 HLA-DQB1 AR,AD,AO NM_001243961 exon2 c.623-2T>C 0.206669 0.2748 0.1691 0.2583 Uncertain 6_32628736_C->T 6 32628736 32628736 C T snp 3664.77 1/1 99 130 0 130 1.0 intronic rs9273532 HLA-DQB1 AR,AD,AO NM_001243961 exon2 c.647+77C>T Uncertain 6_32628737_A->G 6 32628737 32628737 A G snp 3586.77 1/1 99 129 0 129 1.0 intronic rs9273533 HLA-DQB1 AR,AD,AO NM_001243961 exon2 c.647+78A>G Uncertain 6_32628741_-->TTAA 6 32628741 32628741 - TTAA indel 8825.73 1/1 99 129 0 129 1.0 intronic rs281864360 HLA-DQB1 AR,AD,AO NM_001243961 exon2 c.647+82insTTAA Uncertain 6_32628751_C->T 6 32628751 32628751 C T snp 3688.77 1/1 99 135 0 135 1.0 intronic rs9273534 HLA-DQB1 AR,AD,AO NM_001243961 exon2 c.647+92C>T 0.571286 0.625 Uncertain 6_32628760_C->A 6 32628760 32628760 C A snp 3557.77 1/1 99 130 0 130 1.0 intronic rs9273535 HLA-DQB1 AR,AD,AO NM_001243961 exon2 c.647+101C>A 0.1875 0.253 Uncertain 6_32628765_C->T 6 32628765 32628765 C T snp 3387.77 1/1 99 126 0 126 1.0 intronic rs9273537 HLA-DQB1 AR,AD,AO NM_001243961 exon2 c.647+106C>T 0.349641 0.3194 Uncertain 6_32628776_C->A 6 32628776 32628776 C A snp 3058.77 1/1 99 106 0 106 1.0 intronic rs2854273 HLA-DQB1 AR,AD,AO NM_001243961 exon2 c.647+117C>A 0.568091 0.6141 Uncertain 6_32628784_C->A 6 32628784 32628784 C A snp 2819.77 1/1 99 91 0 91 1.0 intronic rs3020628 HLA-DQB1 AR,AD,AO NM_001243961 exon2 c.647+125C>A 0.567093 0.6141 Uncertain 6_32628787_C->T 6 32628787 32628787 C T snp 2644.77 1/1 99 87 0 87 1.0 intronic rs9273541 HLA-DQB1 AR,AD,AO NM_001243961 exon2 c.647+128C>T 0.184904 0.245 Uncertain 6_32628817_G->A 6 32628817 32628817 G A snp 1420.77 1/1 99 40 0 40 1.0 intronic rs9273543 HLA-DQB1 AR,AD,AO NM_001243961 exon2 c.647+158G>A 0.13758 0.2252 Uncertain 6_32628833_A->G 6 32628833 32628833 A G snp 660.77 1/1 51 17 0 17 1.0 intronic rs9273544 HLA-DQB1 AR,AD,AO NM_001243961 exon2 c.647+174A>G 0.537141 0.5595 Uncertain 6_32628835_A->C 6 32628835 32628835 A C snp 594.77 1/1 45 15 0 15 1.0 intronic rs3020625 HLA-DQB1 AR,AD,AO NM_001243961 exon2 c.647+176A>C 0.537141 0.5595 Uncertain 6_32628841_A->G 6 32628841 32628841 A G snp 518.77 1/1 39 13 0 13 1.0 intronic rs9273546 HLA-DQB1 AR,AD,AO NM_001243961 exon2 c.647+182A>G 0.795527 0.873 Uncertain 6_32628844_T->C 6 32628844 32628844 T C snp 476.77 1/1 39 13 0 13 1.0 intronic rs9273547 HLA-DQB1 AR,AD,AO NM_001243961 exon2 c.647+185T>C 0.539137 0.5615 Uncertain 6_32628845_G->A 6 32628845 32628845 G A snp 516.77 1/1 39 13 0 13 1.0 intronic rs9273548 HLA-DQB1 AR,AD,AO NM_001243961 exon2 c.647+186G>A 0.301917 0.3522 Uncertain 6_32628890_G->A 6 32628890 32628890 G A snp 54.74 1/1 6 2 0 2 1.0 intronic rs9273550 HLA-DQB1 AR,AD,AO NM_001243961 exon2 c.647+231G>A 0.269768 0.3026 Uncertain 6_32629110_C->T 6 32629110 32629110 C T snp 98.28 1/1 9 3 0 3 1.0 intronic rs9273608 HLA-DQB1 AR,AD,AO NM_001243961 exon3 c.1111-13C>T 0.304313 0.3869 0.0317 0.0137 Uncertain 6_32629137_T->G 6 32629137 32629137 T G snp 94.28 1/1 9 3 0 3 1.0 exonic rs1140343 HLA-DQB1 AR,AD,AO nonsynonymous SNV NM_002123 exon4 c.A759C p.Q253H 0.474042 0.4563 0.1460 0.0730 0.19 T 0.0 P -0.936 T 0.0 T 0.0 T Pathogenic 6_32629141_C->T 6 32629141 32629141 C T snp 92.28 1/1 9 3 0 3 1.0 exonic rs1140342 HLA-DQB1 AR,AD,AO nonsynonymous SNV NM_002123 exon4 c.G755A p.R252H 0.429313 0.4038 0.288362 0.1332 0.0642 0.14 T 0.0 P -0.975 T 0.003 T 0.002 T Pathogenic 6_32629146_G->A 6 32629146 32629146 G A snp 96.28 1/1 9 3 0 3 1.0 exonic rs3210168 HLA-DQB1 AR,AD,AO synonymous SNV NM_002123 exon4 c.C750T p.I250I 0.250998 0.3294 0.053127 0.0068 0.0100 Uncertain 6_32629161_A->G 6 32629161 32629161 A G snp 287.78 1/1 24 8 0 8 1.0 exonic rs1130430 HLA-DQB1 AR,AD,AO synonymous SNV NM_002123 exon4 c.T735C p.L245L 0.525559 0.5625 0.1477 0.1479 Uncertain 6_32629193_C->T 6 32629193 32629193 C T snp 467.77 1/1 36 14 0 14 1.0 exonic rs1049163 HLA-DQB1 AR,AD,AO nonsynonymous SNV NM_002123 exon4 c.G703A p.V235I 0.373602 0.4385 0.0459 0.0176 0.46 T 0.0 P -0.995 T 0.002 T 0.005 T Pathogenic 6_32629239_A->G 6 32629239 32629239 A G snp 698.03 1/1 12 28 2 26 0.93 splicing rs559673115 HLA-DQB1 AR,AD,AO NM_001243961 exon3 c.1222+5A>G 0.496406 0.5516 0.009352 0.0359 0.0308 Pathogenic 6_32629240_G->A 6 32629240 32629240 G A snp 775.77 1/1 57 28 0 28 1.0 splicing HLA-DQB1 AR,AD,AO NM_001243961 exon3 c.1222+6G>A 0.721446 0.747 0.404976 0.5445 0.7026 Pathogenic 6_32629246_-->G 6 32629246 32629246 - G indel 761.86 0/1 2 28 2 26 0.93 intronic HLA-DQB1 AR,AD,AO NM_001243961 exon3 c.1222+12insG 0.341563 0.0310 0.0246 Uncertain 6_32629247_A->C 6 32629247 32629247 A C snp 696.03 1/1 12 28 2 26 0.93 intronic rs9273673 HLA-DQB1 AR,AD,AO NM_001243961 exon3 c.1222+13A>C 0.0205 0.0146 Uncertain 6_32629257_T->A 6 32629257 32629257 T A snp 882.77 1/1 63 38 1 37 0.97 intronic rs9273677 HLA-DQB1 AR,AD,AO NM_001243961 exon3 c.1222+23T>A 0.561073 0.4306 0.3046 Uncertain 6_32629269_C->T 6 32629269 32629269 C T snp 879.78 1/1 24 41 2 39 0.95 intronic rs9273685 HLA-DQB1 AR,AD,AO NM_001243961 exon3 c.1222+35C>T 0.155152 0.2103 0.0092 0.0036 Uncertain 6_32629297_T->C 6 32629297 32629297 T C snp 929.78 1/1 27 44 3 41 0.93 intronic rs9273704 HLA-DQB1 AR,AD,AO NM_001243961 exon3 c.1222+63T>C 0.560104 0.6171 Uncertain 6_32629314_G->A 6 32629314 32629314 G A snp 844.8 1/1 21 38 2 36 0.95 intronic rs9273710 HLA-DQB1 AR,AD,AO NM_001243961 exon3 c.1222+80G>A 0.45008 0.4187 Uncertain 6_32629320_A->G 6 32629320 32629320 A G snp 889.77 1/1 63 36 0 36 1.0 intronic rs9273713 HLA-DQB1 AR,AD,AO NM_001243961 exon3 c.1222+86A>G 0.782748 0.871 Uncertain 6_32629328_G->A 6 32629328 32629328 G A snp 733.9 1/1 15 33 2 31 0.94 intronic rs28724240 HLA-DQB1 AR,AD,AO NM_001243961 exon3 c.1222+94G>A 0.153355 0.2004 Uncertain 6_32629330_C->T 6 32629330 32629330 C T snp 733.9 1/1 15 33 2 31 0.94 intronic rs28724241 HLA-DQB1 AR,AD,AO NM_001243961 exon3 c.1222+96C>T 0.153355 0.2004 Uncertain 6_32629331_A->G 6 32629331 32629331 A G snp 744.84 1/1 18 33 2 31 0.94 intronic rs28724242 HLA-DQB1 AR,AD,AO NM_001243961 exon3 c.1222+97A>G 0.341454 0.4702 Uncertain 6_32629347_T->C 6 32629347 32629347 T C snp 750.84 1/1 18 31 1 30 0.97 intronic rs28724243 HLA-DQB1 AR,AD,AO NM_001243961 exon3 c.1222+113T>C 0.352037 0.4891 Uncertain 6_32629368_-->G 6 32629368 32629368 - G indel 596.77 0/1 21 23 2 21 0.91 intronic rs28986211 HLA-DQB1 AR,AD,AO NM_001243961 exon3 c.1222+134insG Uncertain 6_32629380_A->- 6 32629380 32629380 A - indel 711.73 1/1 51 18 0 18 1.0 intronic HLA-DQB1 AR,AD,AO NM_001243961 exon3 c.1222+146delA Uncertain 6_32629398_G->C 6 32629398 32629398 G C snp 338.78 1/1 27 11 0 11 1.0 intronic rs28724244 HLA-DQB1 AR,AD,AO NM_001243961 exon3 c.1222+164G>C 0.172524 0.2262 Uncertain 6_32629400_A->G 6 32629400 32629400 A G snp 267.8 1/1 21 9 0 9 1.0 intronic rs28724245 HLA-DQB1 AR,AD,AO NM_001243961 exon3 c.1222+166A>G 0.31849 0.3958 Uncertain 6_32629409_A->G 6 32629409 32629409 A G snp 137.03 1/1 12 6 0 6 1.0 intronic rs9273754 HLA-DQB1 AR,AD,AO NM_001243961 exon3 c.1222+175A>G 0.794529 0.8819 Uncertain 6_32629422_T->C 6 32629422 32629422 T C snp 95.28 1/1 9 4 0 4 1.0 intronic rs28724246 HLA-DQB1 AR,AD,AO NM_001243961 exon3 c.1222+188T>C 0.182109 0.246 Uncertain 6_32629582_C->T 6 32629582 32629582 C T snp 90.28 1/1 9 3 0 3 1.0 intronic rs9273841 HLA-DQB1 AR,AD,AO NM_001243961 exon4 c.1731-161C>T 0.83107 0.9087 Uncertain 6_32629639_T->C 6 32629639 32629639 T C snp 649.77 1/1 48 21 0 21 1.0 intronic rs9273866 HLA-DQB1 AR,AD,AO NM_001243961 exon4 c.1731-104T>C 0.220048 0.2956 Uncertain 6_32629697_-->CTGCC 6 32629697 32629697 - CTGCC indel 5689.73 1/1 99 74 0 74 1.0 intronic rs28986212 HLA-DQB1 AR,AD,AO NM_001243961 exon4 c.1731-46insCTGCC 0.3678 0.4861 Uncertain 6_32629708_-->G 6 32629708 32629708 - G indel 3865.73 1/1 99 100 0 100 1.0 intronic rs368742056 HLA-DQB1 AR,AD,AO NM_001243961 exon4 c.1731-35insG 0.723099 0.7716 0.8810 Uncertain 6_32629755_G->A 6 32629755 32629755 G A snp 4197.77 1/1 99 159 0 159 1.0 exonic rs1130399 HLA-DQB1 AR,AD,AO nonsynonymous SNV NM_002123 exon3 c.C650T p.T217I 0.254393 0.2956 0.182126 0.2339 0.3218 0.01 T 0.0 P -0.979 T 0.003 T 0.005 T Pathogenic 6_32629764_C->T 6 32629764 32629764 C T snp 4491.77 1/1 99 177 0 177 1.0 exonic rs1130398 HLA-DQB1 AR,AD,AO nonsynonymous SNV NM_002123 exon3 c.G641A p.S214N 0.395567 0.4782 0.338441 0.4056 0.5271 0.04 T 0.000 P -0.922 T 0.0 T 0.001 T Pathogenic 6_32629802_A->G 6 32629802 32629802 A G snp 4708.77 1/1 99 172 0 172 1.0 exonic rs1049092 HLA-DQB1 AR,AD,AO synonymous SNV NM_002123 exon3 c.T603C p.D201D 0.620208 0.6756 0.566672 0.6212 0.7327 Uncertain 6_32629847_A->G 6 32629847 32629847 A G snp 4253.77 1/1 99 158 1 157 0.99 exonic rs1049133 HLA-DQB1 AR,AD,AO synonymous SNV NM_002123 exon3 c.T558C p.T186T 0.83127 0.9087 0.738809 0.7985 0.9027 Uncertain 6_32629859_A->G 6 32629859 32629859 A G snp 3811.77 1/1 99 140 1 139 0.99 exonic rs1049130 HLA-DQB1 AR,AD,AO synonymous SNV NM_002123 exon3 c.T546C p.N182N 0.665535 0.8423 0.523934 0.6104 0.8074 Uncertain 6_32629889_G->A 6 32629889 32629889 G A snp 2857.77 1/1 99 102 0 102 1.0 exonic rs1049087 HLA-DQB1 AR,AD,AO synonymous SNV NM_002123 exon3 c.C516T p.A172A 0.450679 0.4931 0.376541 0.4378 0.5229 Uncertain 6_32629891_C->T 6 32629891 32629891 C T snp 2854.77 1/1 99 102 0 102 1.0 exonic rs1063323 HLA-DQB1 AR,AD,AO nonsynonymous SNV NM_002123 exon3 c.G514A p.A172T 0.395168 0.4782 0.329582 0.3947 0.5217 0.26 T 0.0 P -0.899 T 0.008 T 0.008 T Pathogenic 6_32629904_A->G 6 32629904 32629904 A G snp 2454.77 1/1 99 86 0 86 1.0 exonic rs1049086 HLA-DQB1 AR,AD,AO synonymous SNV NM_002123 exon3 c.T501C p.D167D 0.625799 0.6756 0.555100 0.6162 0.7253 Uncertain 6_32629935_C->G 6 32629935 32629935 C G snp 2085.77 1/1 99 69 0 69 1.0 exonic rs1063322 HLA-DQB1 AR,AD,AO nonsynonymous SNV NM_002123 exon3 c.G470C p.G157A 0.5643 0.6031 0.04 T 0.0 P -0.926 T 0.003 T 0.025 T Pathogenic 6_32629955_C->T 6 32629955 32629955 C T snp 2219.77 1/1 99 76 0 76 1.0 exonic rs1063321 HLA-DQB1 AR,AD,AO synonymous SNV NM_002123 exon3 c.G450A p.S150S 0.391573 0.4712 0.3676 0.4906 Uncertain 6_32630054_AT->- 6 32630054 32630055 AT - indel 4510.73 1/1 99 91 0 91 1.0 intronic HLA-DQB1 AR,AD,AO NM_001243961 exon4 c.2013+29_2013+30delAT 0.230959 0.2780 0.3982 Uncertain 6_32630073_A->C 6 32630073 32630073 A C snp 2304.77 1/1 99 91 0 91 1.0 intronic rs9274050 HLA-DQB1 AR,AD,AO NM_001243961 exon4 c.2013+48A>C 0.357823 0.3365 0.6038 Uncertain 6_32630080_C->G 6 32630080 32630080 C G snp 2265.77 1/1 99 88 0 88 1.0 intronic rs9274053 HLA-DQB1 AR,AD,AO NM_001243961 exon4 c.2013+55C>G Uncertain 6_32630093_G->T 6 32630093 32630093 G T snp 1761.77 1/1 99 67 1 66 0.99 intronic rs28724258 HLA-DQB1 AR,AD,AO NM_001243961 exon4 c.2013+68G>T 0.252596 0.3194 Uncertain 6_32630094_A->G 6 32630094 32630094 A G snp 1788.77 1/1 99 66 0 66 1.0 intronic rs9274062 HLA-DQB1 AR,AD,AO NM_001243961 exon4 c.2013+69A>G 0.252596 0.3194 Uncertain 6_32630099_G->T 6 32630099 32630099 G T snp 1758.77 1/1 99 67 2 65 0.97 intronic rs9274065 HLA-DQB1 AR,AD,AO NM_001243961 exon4 c.2013+74G>T 0.252396 0.3194 Uncertain 6_32630101_A->G 6 32630101 32630101 A G snp 1815.77 1/1 99 67 0 67 1.0 intronic rs28724259 HLA-DQB1 AR,AD,AO NM_001243961 exon4 c.2013+76A>G Uncertain 6_32630112_-->A 6 32630112 32630112 - A indel 2709.73 1/1 99 68 0 68 1.0 intronic rs397843803 HLA-DQB1 AR,AD,AO NM_001243961 exon4 c.2013+87insA Uncertain 6_32630139_G->C 6 32630139 32630139 G C snp 1376.77 1/1 99 49 0 49 1.0 intronic rs9274084 HLA-DQB1 AR,AD,AO NM_001243961 exon4 c.2013+114G>C 0.844649 0.9375 Uncertain 6_32630155_G->A 6 32630155 32630155 G A snp 1019.77 1/1 75 36 0 36 1.0 intronic rs9274094 HLA-DQB1 AR,AD,AO NM_001243961 exon4 c.2013+130G>A 0.38119 0.4653 Uncertain 6_32630176_T->A 6 32630176 32630176 T A snp 649.77 1/1 48 24 0 24 1.0 intronic rs9274106 HLA-DQB1 AR,AD,AO NM_001243961 exon4 c.2013+151T>A 0.521765 0.5278 Uncertain 6_32630194_T->C 6 32630194 32630194 T C snp 527.77 1/1 42 16 0 16 1.0 intronic rs9274112 HLA-DQB1 AR,AD,AO NM_001243961 exon4 c.2013+169T>C 0.80631 0.9028 Uncertain 6_32630205_T->C 6 32630205 32630205 T C snp 277.78 1/1 24 8 0 8 1.0 intronic rs9274115 HLA-DQB1 AR,AD,AO NM_001243961 exon4 c.2013+180T>C 0.803315 0.9008 Uncertain 6_32630213_T->C 6 32630213 32630213 T C snp 245.8 1/1 21 8 0 8 1.0 intronic rs4360168 HLA-DQB1 AR,AD,AO NM_001243961 exon4 c.2013+188T>C 0.845048 0.9355 Uncertain 6_32630225_A->C 6 32630225 32630225 A C snp 209.84 1/1 18 6 0 6 1.0 intronic rs9274126 HLA-DQB1 AR,AD,AO NM_001243961 exon4 c.2013+200A>C Uncertain 6_32630230_T->C 6 32630230 32630230 T C snp 158.9 1/1 15 5 0 5 1.0 intronic rs9274129 HLA-DQB1 AR,AD,AO NM_001243961 exon4 c.2013+205T>C 0.359425 0.4405 Uncertain 6_32630240_A->G 6 32630240 32630240 A G snp 127.03 1/1 12 4 0 4 1.0 intronic rs28724260 HLA-DQB1 AR,AD,AO NM_001243961 exon4 c.2013+215A>G 0.357428 0.4395 Uncertain 6_32632469_T->C 6 32632469 32632469 T C snp 56.74 1/1 6 3 0 3 1.0 intronic rs9274358 HLA-DQB1 AR,AD,AO NM_001243961 exon5 c.4562-105T>C 0.420727 0.4375 Uncertain 6_32632474_T->A 6 32632474 32632474 T A snp 96.28 1/1 9 4 0 4 1.0 intronic HLA-DQB1 AR,AD,AO NM_001243961 exon5 c.4562-100T>A Uncertain 6_32632475_G->A 6 32632475 32632475 G A snp 98.28 1/1 9 4 0 4 1.0 intronic HLA-DQB1 AR,AD,AO NM_001243961 exon5 c.4562-99G>A Uncertain 6_32632483_A->G 6 32632483 32632483 A G snp 98.28 1/1 9 5 0 5 1.0 intronic rs9274361 HLA-DQB1 AR,AD,AO NM_001243961 exon5 c.4562-91A>G 0.673722 0.7153 Uncertain 6_32632486_T->C 6 32632486 32632486 T C snp 172.9 1/1 15 7 0 7 1.0 intronic rs9274362 HLA-DQB1 AR,AD,AO NM_001243961 exon5 c.4562-88T>C 0.422524 0.4355 Uncertain 6_32632492_A->G 6 32632492 32632492 A G snp 298.78 1/1 24 10 0 10 1.0 intronic rs9274363 HLA-DQB1 AR,AD,AO NM_001243961 exon5 c.4562-82A>G Uncertain 6_32632495_T->G 6 32632495 32632495 T G snp 409.77 1/1 33 13 0 13 1.0 intronic rs9274364 HLA-DQB1 AR,AD,AO NM_001243961 exon5 c.4562-79T>G 0.591853 0.7312 Uncertain 6_32632503_A->T 6 32632503 32632503 A T snp 818.77 1/1 63 25 0 25 1.0 intronic HLA-DQB1 AR,AD,AO NM_001243961 exon5 c.4562-71A>T 0.38099 0.3919 Uncertain 6_32632514_C->T 6 32632514 32632514 C T snp 1118.77 1/1 84 32 0 32 1.0 intronic rs185812018 HLA-DQB1 AR,AD,AO NM_001243961 exon5 c.4562-60C>T 0.413938 0.4325 Uncertain 6_32632518_A->G 6 32632518 32632518 A G snp 1121.77 1/1 84 32 0 32 1.0 intronic rs9274368 HLA-DQB1 AR,AD,AO NM_001243961 exon5 c.4562-56A>G 0.414537 0.4315 Uncertain 6_32632523_A->G 6 32632523 32632523 A G snp 1111.77 1/1 84 32 0 32 1.0 intronic rs9274369 HLA-DQB1 AR,AD,AO NM_001243961 exon5 c.4562-51A>G 0.795727 0.9147 0.419490 Uncertain 6_32632528_G->T 6 32632528 32632528 G T snp 1104.77 1/1 84 32 0 32 1.0 intronic HLA-DQB1 AR,AD,AO NM_001243961 exon5 c.4562-46G>T 0.220248 0.2768 0.0056 0.0081 Uncertain 6_32632532_T->C 6 32632532 32632532 T C snp 1103.77 1/1 84 32 0 32 1.0 intronic HLA-DQB1 AR,AD,AO NM_001243961 exon5 c.4562-42T>C 0.408746 0.4256 0.0072 0.0107 Uncertain 6_32632534_T->C 6 32632534 32632534 T C snp 1126.77 1/1 84 32 0 32 1.0 intronic HLA-DQB1 AR,AD,AO NM_001243961 exon5 c.4562-40T>C 0.794329 0.9127 0.477497 0.2620 0.5195 Uncertain 6_32632536_G->T 6 32632536 32632536 G T snp 1182.77 1/1 90 34 0 34 1.0 intronic HLA-DQB1 AR,AD,AO NM_001243961 exon5 c.4562-38G>T 0.215256 0.2708 0.015229 0.0060 0.0090 Uncertain 6_32632544_G->A 6 32632544 32632544 G A snp 2158.77 1/1 99 77 0 77 1.0 intronic rs28746797 HLA-DQB1 AR,AD,AO NM_001243961 exon5 c.4562-30G>A 0.220048 0.2758 0.084860 0.0067 0.0089 Uncertain 6_32632553_A->G 6 32632553 32632553 A G snp 2334.77 1/1 99 83 0 83 1.0 intronic HLA-DQB1 AR,AD,AO NM_001243961 exon5 c.4562-21A>G 0.415735 0.4355 0.0116 0.0140 Uncertain 6_32632555_G->A 6 32632555 32632555 G A snp 2249.77 1/1 99 83 0 83 1.0 intronic rs9274372 HLA-DQB1 AR,AD,AO NM_001243961 exon5 c.4562-19G>A 0.415735 0.4355 0.0130 0.0155 Uncertain 6_32632558_G->C 6 32632558 32632558 G C snp 2411.77 1/1 99 88 0 88 1.0 intronic HLA-DQB1 AR,AD,AO NM_001243961 exon5 c.4562-16G>C 0.224441 0.2847 0.0089 0.0108 Uncertain 6_32632578_T->G 6 32632578 32632578 T G snp 2969.77 1/1 99 110 0 110 1.0 exonic rs1140322 HLA-DQB1 AR,AD,AO synonymous SNV NM_002123 exon2 c.A376C p.R126R 0.435703 0.4573 0.0525 0.0552 Uncertain 6_32632581_T->G 6 32632581 32632581 T G snp 2980.77 1/1 99 110 0 110 1.0 exonic rs1140321 HLA-DQB1 AR,AD,AO synonymous SNV NM_002123 exon2 c.A373C p.R125R 0.435104 0.4563 0.0563 0.0597 Uncertain 6_32632589_A->G 6 32632589 32632589 A G snp 2923.77 1/1 99 103 0 103 1.0 exonic rs1140320 HLA-DQB1 AR,AD,AO nonsynonymous SNV NM_002123 exon2 c.T365C p.I122T 0.436302 0.4583 0.0563 0.0579 1 T 1.000 N -1.054 T 0.0 T 0.001 T Pathogenic 6_32632592_C->G 6 32632592 32632592 C G snp 2922.77 1/1 99 103 0 103 1.0 exonic rs1140319 HLA-DQB1 AR,AD,AO nonsynonymous SNV NM_002123 exon2 c.G362C p.G121A 0.436102 0.4583 0.0600 0.0652 0.03 T 1 N -1.009 T 0.0 T 0.001 T Pathogenic 6_32632593_C->T 6 32632593 32632593 C T snp 2930.77 1/1 99 103 0 103 1.0 exonic rs1140318 HLA-DQB1 AR,AD,AO nonsynonymous SNV NM_002123 exon2 c.G361A p.G121R 0.436102 0.4583 0.0612 0.0660 0 D 1 N -0.977 T 0.134 T 0.002 T Pathogenic 6_32632599_A->G 6 32632599 32632599 A G snp 2884.77 1/1 99 103 0 103 1.0 exonic rs9274379 HLA-DQB1 AR,AD,AO nonsynonymous SNV NM_002123 exon2 c.T355C p.F119L 0.0722 0.0876 0.08 T 1 N -0.890 T 0.92 T 0.325 D Pathogenic 6_32632601_G->T 6 32632601 32632601 G T snp 2916.77 1/1 99 103 0 103 1.0 exonic rs9274380 HLA-DQB1 AR,AD,AO nonsynonymous SNV NM_002123 exon2 c.C353A p.A118E 0.0796 0.0997 0.42 T 1 N -0.885 T 0.995 D 0.943 D Pathogenic 6_32632605_C->A 6 32632605 32632605 C A snp 2857.77 1/1 99 105 0 105 1.0 exonic rs1140317 HLA-DQB1 AR,AD,AO nonsynonymous SNV NM_002123 exon2 c.G349T p.V117L 0.1103 0.1477 0.11 T 1.000 N -1.019 T 0.053 T 0.182 T Pathogenic 6_32632608_C->G 6 32632608 32632608 C G snp 3138.77 1/1 99 111 1 110 0.99 exonic rs1140316 HLA-DQB1 AR,AD,AO nonsynonymous SNV NM_002123 exon2 c.G346C p.E116Q 0.1486 0.2111 0.22 T 0.0 P -0.994 T 0.586 P 0.243 P Pathogenic 6_32632650_C->T 6 32632650 32632650 C T snp 5769.77 1/1 99 215 1 214 1.0 exonic rs1130386 HLA-DQB1 AR,AD,AO nonsynonymous SNV NM_002123 exon2 c.G304A p.G102R 0.545327 0.6369 0.460808 0.5575 0.7532 0.7 T 0.0 P -1.107 T 0.065 T 0.012 T Pathogenic 6_32632687_A->G 6 32632687 32632687 A G snp 5978.77 1/1 99 219 0 219 1.0 exonic rs1140314 HLA-DQB1 AR,AD,AO synonymous SNV NM_002123 exon2 c.T267C p.D89D 0.421643 0.5275 0.7826 Uncertain 6_32632694_C->G 6 32632694 32632694 C G snp 5972.77 1/1 99 223 0 223 1.0 exonic rs1130380 HLA-DQB1 AR,AD,AO nonsynonymous SNV NM_002123 exon2 c.G260C p.R87P 0.3613 0.4735 0.05 T 0.000 P -0.908 T 0.997 D 0.922 D Pathogenic 6_32632700_T->A 6 32632700 32632700 T A snp 5799.77 1/1 99 225 0 225 1.0 exonic rs1140313 HLA-DQB1 AR,AD,AO nonsynonymous SNV NM_002123 exon2 c.A254T p.Q85L 0.3944 0.5173 1 T 0.026 P -1.074 T 0.072 T 0.012 T Pathogenic 6_32632714_G->C 6 32632714 32632714 G C snp 5787.77 1/1 99 215 0 215 1.0 exonic rs3210148 HLA-DQB1 AR,AD,AO synonymous SNV NM_002123 exon2 c.C240G p.R80R 0.841653 0.9395 0.695401 0.7494 0.9114 Uncertain 6_32632717_G->A 6 32632717 32632717 G A snp 5818.77 1/1 99 215 0 215 1.0 exonic rs1049073 HLA-DQB1 AR,AD,AO synonymous SNV NM_002123 exon2 c.C237T p.Y79Y 0.365615 0.5109 0.176962 0.3262 0.5216 Uncertain 6_32632744_C->T 6 32632744 32632744 C T snp 5617.77 1/1 99 204 0 204 1.0 exonic rs1049082 HLA-DQB1 AR,AD,AO synonymous SNV NM_002123 exon2 c.G210A p.A70A 0.374201 0.4365 0.326298 0.3856 0.4793 Uncertain 6_32632832_A->T 6 32632832 32632832 A T snp 2382.77 1/1 99 80 0 80 1.0 exonic rs9274407 HLA-DQB1 AR,AD,AO nonsynonymous SNV NM_002123 exon2 c.T122A p.F41Y 0.759385 0.744 0.781738 0.7867 0.7409 0.81 T 0.0 P -0.880 T 0.002 T 0.001 T Pathogenic 6_32632872_-->GGCCCCGGCCC 6 32632872 32632872 - GGCCCCGGCCC indel 2417.73 1/1 72 29 0 29 1.0 intronic HLA-DQB1 AR,AD,AO NM_001243961 exon5 c.4832+28insGGCCCCGGCCC 0.3102 0.4664 Uncertain 6_32632917_T->C 6 32632917 32632917 T C snp 46.74 1/1 6 2 0 2 1.0 intronic rs9274414 HLA-DQB1 AR,AD,AO NM_001243961 exon5 c.4832+73T>C Uncertain 6_32634184_A->G 6 32634184 32634184 A G snp 139.03 1/1 12 4 0 4 1.0 intronic rs9274510 HLA-DQB1 AR,AD,AO NM_001243961 exon6 c.6263-91A>G 0.570288 0.6438 Uncertain 6_32634192_A->G 6 32634192 32634192 A G snp 182.9 1/1 15 5 0 5 1.0 intronic rs9274512 HLA-DQB1 AR,AD,AO NM_001243961 exon6 c.6263-83A>G Uncertain 6_32634209_A->- 6 32634209 32634209 A - indel 423.73 1/1 33 11 0 11 1.0 intronic HLA-DQB1 AR,AD,AO NM_001243961 exon6 c.6263-66delA Uncertain 6_32634261_C->T 6 32634261 32634261 C T snp 1634.77 1/1 99 56 1 55 0.98 intronic rs28746846 HLA-DQB1 AR,AD,AO NM_001243961 exon6 c.6263-14C>T 0.217652 0.2887 0.1921 0.3099 Uncertain 6_32634262_T->G 6 32634262 32634262 T G snp 1695.77 1/1 99 58 0 58 1.0 intronic rs28746847 HLA-DQB1 AR,AD,AO NM_001243961 exon6 c.6263-13T>G 0.217452 0.2877 0.001235 0.1943 0.3128 Uncertain 6_32634300_G->C 6 32634300 32634300 G C snp 2471.77 1/1 99 85 0 85 1.0 exonic rs1130366 HLA-DQB1 AR,AD,AO nonsynonymous SNV NM_002123 exon1 c.C85G p.L29V 0.286317 0.3022 0.3443 0.27 T 0.0 P -0.913 T 0.01 T 0.006 T Pathogenic 6_32634301_T->C 6 32634301 32634301 T C snp 2438.77 1/1 99 85 0 85 1.0 exonic rs1130373 HLA-DQB1 AR,AD,AO synonymous SNV NM_002123 exon1 c.A84G p.L28L 0.217452 0.2857 Uncertain 6_32634302_A->G 6 32634302 32634302 A G snp 2438.77 1/1 99 85 0 85 1.0 exonic rs1049062 HLA-DQB1 AR,AD,AO nonsynonymous SNV NM_002123 exon1 c.T83C p.L28P 0.478272 0.6150 0.6705 1 T 0.0 P -0.927 T 0.001 T 0.001 T Pathogenic 6_32634306_A->T 6 32634306 32634306 A T snp 2473.77 1/1 99 91 0 91 1.0 exonic rs1049060 HLA-DQB1 AR,AD,AO nonsynonymous SNV NM_002123 exon1 c.T79A p.S27T 0.4927 0.6368 0.44 T 0.0 P -0.926 T 0.01 T 0.006 T Pathogenic 6_32634331_G->C 6 32634331 32634331 G C snp 3043.77 1/1 99 119 0 119 1.0 exonic rs1049058 HLA-DQB1 AR,AD,AO synonymous SNV NM_002123 exon1 c.C54G p.V18V 0.377100 0.3262 0.4433 Uncertain 6_32634350_T->C 6 32634350 32634350 T C snp 3354.77 1/1 99 127 0 127 1.0 exonic rs1049057 HLA-DQB1 AR,AD,AO nonsynonymous SNV NM_002123 exon1 c.A35G p.D12G 0.605232 0.6657 0.426383 0.4971 0.6382 1 T 0.0 P -0.935 T 0.002 T 0.001 T Pathogenic 6_32634355_G->A 6 32634355 32634355 G A snp 3415.77 1/1 99 129 0 129 1.0 exonic rs1049072 HLA-DQB1 AR,AD,AO synonymous SNV NM_002123 exon1 c.C30T p.P10P 0.221845 0.2966 0.136817 0.2204 0.3254 Uncertain 6_32634387_C->T 6 32634387 32634387 C T snp 3600.77 1/1 99 130 0 130 1.0 UTR5 rs1049055 HLA-DQB1 AR,AD,AO 0.821685 0.9077 0.670283 0.7463 0.8760 Uncertain 6_32634405_C->T 6 32634405 32634405 C T snp 3410.77 1/1 99 115 0 115 1.0 UTR5 HLA-DQB1 AR,AD,AO 0.802117 0.9058 0.6849 0.8328 Uncertain 6_32634425_C->T 6 32634425 32634425 C T snp 2962.77 1/1 99 102 0 102 1.0 UTR5 rs1049070 HLA-DQB1 AR,AD,AO 0.222644 0.3006 0.155314 0.2264 0.3390 Uncertain 6_32634482_G->C 6 32634482 32634482 G C snp 1564.77 1/1 99 58 1 57 0.98 upstream rs9274525 HLA-DQB1 AR,AD,AO Uncertain 6_32634485_A->C 6 32634485 32634485 A C snp 1448.77 1/1 99 55 1 54 0.98 upstream rs9274526 HLA-DQB1 AR,AD,AO 0.811102 0.9008 Uncertain 6_32634506_C->T 6 32634506 32634506 C T snp 1128.77 1/1 84 37 0 37 1.0 upstream rs28746851 HLA-DQB1 AR,AD,AO 0.271765 0.3988 Uncertain 6_32634508_C->T 6 32634508 32634508 C T snp 1112.77 1/1 81 35 0 35 1.0 upstream rs9274528 HLA-DQB1 AR,AD,AO 0.807508 0.8948 Uncertain 6_32634514_A->G 6 32634514 32634514 A G snp 1091.77 1/1 81 33 1 32 0.97 upstream rs9274529 HLA-DQB1 AR,AD,AO 0.514577 0.5 Uncertain 6_32634545_C->A 6 32634545 32634545 C A snp 673.77 1/1 51 19 0 19 1.0 upstream rs11568831 HLA-DQB1 AR,AD,AO 0.207668 0.2698 Uncertain 6_32634556_G->A 6 32634556 32634556 G A snp 378.77 1/1 30 11 0 11 1.0 upstream rs11568830 HLA-DQB1 AR,AD,AO 0.207668 0.2688 Uncertain 6_32634564_-->TT 6 32634564 32634564 - TT indel 199.8 1/1 18 9 0 9 1.0 upstream HLA-DQB1 AR,AD,AO Uncertain 6_32709309_A->G 6 32709309 32709309 A G snp 1625.77 1/1 99 62 0 62 1.0 intergenic HLA-DQB1 AR,AD,AO 0.853235 0.9117 0.786220 0.8135 0.9058 Uncertain 6_32709346_T->C 6 32709346 32709346 T C snp 1704.77 1/1 99 66 0 66 1.0 intergenic HLA-DQB1 AR,AD,AO 0.470447 0.747 0.343841 0.4753 0.7155 Uncertain 6_32709363_G->A 6 32709363 32709363 G A snp 1547.77 1/1 99 63 1 62 0.98 intergenic HLA-DQB1 AR,AD,AO 0.829673 0.877 Uncertain 6_32709370_T->C 6 32709370 32709370 T C snp 1523.77 1/1 99 61 0 61 1.0 intergenic HLA-DQB1 AR,AD,AO 0.847444 0.9067 Uncertain 6_32712961_G->A 6 32712961 32712961 G A snp 114.77 0/1 99 78 69 9 0.12 intergenic HLA-DQB1 AR,AD,AO 0.0010 0 Uncertain 6_32712967_C->G 6 32712967 32712967 C G snp 116.77 0/1 99 85 74 11 0.13 intergenic HLA-DQB1 AR,AD,AO 0.0010 0 0.34 T 1 N -0.928 T 0.0 T 0.004 T Uncertain 6_32712977_C->T 6 32712977 32712977 C T snp 190.77 0/1 99 107 91 16 0.15 intergenic HLA-DQB1 AR,AD,AO 0.0010 0 1 T 1.000 N -1.061 T 0.0 T 0.002 T ID=COSM3830232;OCCURENCE=1(breast) Uncertain 6_32712979_C->T 6 32712979 32712979 C T snp 185.77 0/1 99 112 95 17 0.15 intergenic HLA-DQB1 AR,AD,AO 0.0002 0 Uncertain 6_32712991_C->G 6 32712991 32712991 C G snp 319.77 0/1 99 119 97 22 0.18 intergenic HLA-DQB1 AR,AD,AO 0.0009 0 Uncertain 6_32712999_C->G 6 32712999 32712999 C G snp 398.77 0/1 99 129 103 26 0.2 intergenic HLA-DQB1 AR,AD,AO 0.0009 0 0.12 T 1.000 N -0.956 T 0.016 T 0.058 T Uncertain 6_32713030_T->C 6 32713030 32713030 T C snp 3856.77 0/1 99 177 31 146 0.82 intergenic HLA-DQB1 AR,AD,AO 0.682308 0.8046 0.593009 0.6210 0.8209 Uncertain 6_32713044_C->G 6 32713044 32713044 C G snp 408.77 0/1 99 192 161 31 0.16 intergenic HLA-DQB1 AR,AD,AO 0.0035 0.0003 0.21 T 0.997 N -0.974 T 0.001 T 0.003 T Uncertain 6_32713048_A->G 6 32713048 32713048 A G snp 391.77 0/1 99 202 172 30 0.15 intergenic HLA-DQB1 AR,AD,AO 0.0034 0.0002 Uncertain 6_32713070_A->C 6 32713070 32713070 A C snp 243.77 0/1 99 246 219 27 0.11 intergenic HLA-DQB1 AR,AD,AO 0.0004 0 0.55 T 1 N -0.919 T 0.0 T 0.004 T Uncertain 6_32713075_T->C 6 32713075 32713075 T C snp 246.77 0/1 99 247 220 27 0.11 intergenic HLA-DQB1 AR,AD,AO 0.0004 0 Uncertain 6_32713076_A->C 6 32713076 32713076 A C snp 249.77 0/1 99 246 218 28 0.11 intergenic HLA-DQB1 AR,AD,AO 0.0004 0 0.14 T 1 N -0.903 T 0.011 T 0.046 T Uncertain 6_32713080_A->G 6 32713080 32713080 A G snp 229.77 0/1 99 250 223 27 0.11 intergenic HLA-DQB1 AR,AD,AO 0.0004 0 0.95 T 1 N -0.894 T 0.0 T 0.002 T Uncertain 6_32713086_T->G 6 32713086 32713086 T G snp 214.77 0/1 99 249 224 25 0.1 intergenic HLA-DQB1 AR,AD,AO 0.0002 0 0.22 T 1 N -0.919 T 0.0 T 0.004 T Uncertain 6_32713090_T->A 6 32713090 32713090 T A snp 138.77 0/1 99 250 227 23 0.09 intergenic HLA-DQB1 AR,AD,AO 0.0004 0 0.25 T 0.999 N -0.944 T 0.017 T 0.018 T Uncertain 6_32713188_C->T 6 32713188 32713188 C T snp 6933.77 1/1 99 250 2 248 0.99 intergenic HLA-DQB1 AR,AD,AO 0.852436 0.9107 0.788389 0.8090 0.9047 Uncertain 6_32713267_A->G 6 32713267 32713267 A G snp 1517.77 0/1 99 146 80 66 0.45 intergenic HLA-DQB1 AR,AD,AO 0.195887 0.378 Uncertain 6_32713487_G->A 6 32713487 32713487 G A snp 2623.77 1/1 99 100 7 93 0.93 intergenic HLA-DQB1 AR,AD,AO Uncertain 6_32713598_T->C 6 32713598 32713598 T C snp 287.77 0/1 99 249 212 37 0.15 intergenic HLA-DQB1 AR,AD,AO 0.0702875 0.0873 0.0572 0.0867 1 T 1 N -1.017 T 0.0 T 0.001 T Uncertain 6_32713602_T->C 6 32713602 32713602 T C snp 371.77 0/1 99 250 211 39 0.16 intergenic HLA-DQB1 AR,AD,AO 0.0601038 0.0873 0.0533 0.0871 Uncertain 6_32713608_G->A 6 32713608 32713608 G A snp 532.77 0/1 99 250 205 45 0.18 intergenic HLA-DQB1 AR,AD,AO 0.0076 0.0058 Uncertain 6_32713784_C->A 6 32713784 32713784 C A snp 623.77 0/1 99 155 126 29 0.19 intergenic HLA-DQB1 AR,AD,AO 0.0652 0.1763 0.45 T 0.999 N -0.946 T 0.011 T 0.028 T Uncertain 6_32713827_C->T 6 32713827 32713827 C T snp 66.77 0/1 95 164 152 12 0.07 intergenic HLA-DQB1 AR,AD,AO 0.1985 0.2192 Uncertain 6_32713888_T->C 6 32713888 32713888 T C snp 3180.76 1/1 99 119 0 119 1.0 intergenic HLA-DQB1 AR,AD,AO 0.57528 0.8026 0.459232 0.5633 0.8213 Uncertain 6_32714031_G->A 6 32714031 32714031 G A snp 83.77 0/1 99 34 28 6 0.18 intergenic HLA-DQB1 AR,AD,AO 0.7 T 1.000 N -0.917 T 0.001 T 0.008 T Uncertain 6_32714033_C->A 6 32714033 32714033 C A snp 80.77 0/1 99 35 29 6 0.17 intergenic HLA-DQB1 AR,AD,AO Uncertain 6_32714058_T->G 6 32714058 32714058 T G snp 390.77 0/1 99 54 37 17 0.31 intergenic HLA-DQB1 AR,AD,AO 0.0005 0.0006 1 T 0.999 N -0.999 T 0.0 T 0.001 T Uncertain 6_32714091_A->G 6 32714091 32714091 A G snp 932.77 0/1 99 110 66 44 0.4 intergenic HLA-DQB1 AR,AD,AO 0.0197684 0.0159 0.0052 0.0112 1 T 0.999 N -1.004 T 0.0 T 0.0 T Uncertain 6_32714108_C->G 6 32714108 32714108 C G snp 1069.77 0/1 99 130 78 52 0.4 intergenic HLA-DQB1 AR,AD,AO 0.0054 0.0137 Uncertain 6_32714111_T->C 6 32714111 32714111 T C snp 1200.77 0/1 99 135 80 55 0.41 intergenic HLA-DQB1 AR,AD,AO 0.0055 0.0137 Uncertain 6_32714117_C->G 6 32714117 32714117 C G snp 1324.77 0/1 99 147 83 64 0.44 intergenic HLA-DQB1 AR,AD,AO 0.0054 0.0139 1 T 0.822 N -0.950 T 0.002 T 0.02 T Uncertain 6_32714125_A->G 6 32714125 32714125 A G snp 1455.77 0/1 99 158 86 72 0.46 intergenic HLA-DQB1 AR,AD,AO 0.0126 0.0287 0.8 T 1 N -1.005 T 0.0 T 0.002 T Uncertain 6_32714164_T->C 6 32714164 32714164 T C snp 1595.77 0/1 99 199 105 94 0.47 intergenic HLA-DQB1 AR,AD,AO 0.0935 0.1836 1 T 0.998 N -0.941 T 0.0 T 0.0 T Uncertain 6_32714168_A->G 6 32714168 32714168 A G snp 1651.77 0/1 99 199 105 94 0.47 intergenic HLA-DQB1 AR,AD,AO 0.156949 0.0655 0.151422 0.1567 0.1861 Uncertain 6_32714175_C->T 6 32714175 32714175 C T snp 2549.77 0/1 99 198 92 106 0.54 intergenic HLA-DQB1 AR,AD,AO 0.561901 0.7778 0.446682 0.4939 0.6336 Uncertain 6_32714183_A->- 6 32714183 32714183 A - indel 3407.73 0/1 99 188 84 104 0.55 intergenic rs28993557 HLA-DQB1 AR,AD,AO 0.560104 0.7728 0.423872 0.5119 0.6780 Uncertain 6_32714210_G->A 6 32714210 32714210 G A snp 1585.77 0/1 99 186 104 82 0.44 intergenic HLA-DQB1 AR,AD,AO 0.0504 0.1205 Uncertain 6_32714219_A->G 6 32714219 32714219 A G snp 899.77 0/1 99 150 100 50 0.33 intergenic HLA-DQB1 AR,AD,AO 0.0314 0.0804 Uncertain 6_32714221_C->T 6 32714221 32714221 C T snp 910.77 0/1 99 146 98 48 0.33 intergenic HLA-DQB1 AR,AD,AO 1.911e-05 0.0002 Uncertain 6_32714222_T->G 6 32714222 32714222 T G snp 912.77 0/1 99 144 95 49 0.34 intergenic HLA-DQB1 AR,AD,AO 0.0005 0.0009 Uncertain 6_32714224_AGTATGAG->- 6 32714224 32714231 AGTATGAG - indel 3639.73 0/1 99 137 92 45 0.33 intergenic HLA-DQB1 AR,AD,AO Uncertain 6_32714235_G->A 6 32714235 32714235 G A snp 949.77 0/1 99 134 85 49 0.37 intergenic HLA-DQB1 AR,AD,AO Uncertain 6_32714250_G->A 6 32714250 32714250 G A snp 965.77 0/1 99 123 74 49 0.4 intergenic HLA-DQB1 AR,AD,AO Uncertain 6_32714253_T->C 6 32714253 32714253 T C snp 970.77 0/1 99 120 71 49 0.41 intergenic HLA-DQB1 AR,AD,AO Uncertain 6_32714285_C->G 6 32714285 32714285 C G snp 426.77 0/1 99 74 46 28 0.38 intergenic HLA-DQB1 AR,AD,AO Uncertain 6_32714309_C->G 6 32714309 32714309 C G snp 180.77 0/1 99 42 30 12 0.29 intergenic HLA-DQB1 AR,AD,AO Uncertain 6_32717702_G->A 6 32717702 32717702 G A snp 62.74 1/1 6 4 0 4 1.0 intergenic HLA-DQB1 AR,AD,AO 0.574481 0.8026 0.375 . Uncertain 6_32717800_A->G 6 32717800 32717800 A G snp 54.74 1/1 6 2 0 2 1.0 intergenic HLA-DQB1 AR,AD,AO 0.416134 0.4028 0 . Uncertain 6_32724061_A->G 6 32724061 32724061 A G snp 287.78 1/1 24 8 0 8 1.0 intergenic rs9276558 HLA-DQB1 AR,AD,AO 0.687101 0.8075 Uncertain 6_32724143_G->A 6 32724143 32724143 G A snp 2247.77 1/1 99 69 0 69 1.0 intergenic rs6457646 HLA-DQB1 AR,AD,AO 0.57528 0.8056 Uncertain 6_32724258_C->T 6 32724258 32724258 C T snp 5050.77 1/1 99 183 0 183 1.0 intergenic rs3213490 HLA-DQB1 AR,AD,AO 0.57488 0.8056 0.6008 0.8206 Uncertain 6_32724305_T->C 6 32724305 32724305 T C snp 4475.77 1/1 99 159 0 159 1.0 intergenic rs3213489 HLA-DQB1 AR,AD,AO 0.685104 0.8075 Uncertain 6_32724312_C->G 6 32724312 32724312 C G snp 4220.77 1/1 99 143 0 143 1.0 intergenic rs3213488 HLA-DQB1 AR,AD,AO 0.57488 0.8056 Uncertain 6_32724317_C->T 6 32724317 32724317 C T snp 4037.77 1/1 99 140 0 140 1.0 intergenic rs3213487 HLA-DQB1 AR,AD,AO 0.685104 0.8075 Uncertain 6_32724324_T->C 6 32724324 32724324 T C snp 3826.77 1/1 99 130 0 130 1.0 intergenic rs3213486 HLA-DQB1 AR,AD,AO 0.685104 0.8075 Uncertain 6_32725062_T->A 6 32725062 32725062 T A snp 4106.77 1/1 99 156 0 156 1.0 intergenic rs3213484 HLA-DQB1 AR,AD,AO 0.684105 0.8075 0.6521 0.8004 Uncertain 6_32725193_A->G 6 32725193 32725193 A G snp 2764.77 1/1 99 96 0 96 1.0 intergenic rs2301271 HLA-DQB1 AR,AD,AO 0.71865 0.8433 Uncertain 6_32725286_A->T 6 32725286 32725286 A T snp 415.77 1/1 33 11 0 11 1.0 intergenic rs9276568 HLA-DQB1 AR,AD,AO 0.689097 0.8105 Uncertain 6_32725517_T->C 6 32725517 32725517 T C snp 139.03 1/1 12 4 0 4 1.0 intergenic rs9276569 HLA-DQB1 AR,AD,AO 0.692492 0.8135 0.6709 0.8339 Uncertain 6_32725619_T->C 6 32725619 32725619 T C snp 1347.82 1/1 19 57 6 51 0.89 intergenic rs9276570 HLA-DQB1 AR,AD,AO 0.518171 0.5873 0.4650 0.5235 1 T 0.000 P -1.049 T 0.008 T 0.007 T Uncertain 6_32725620_G->A 6 32725620 32725620 G A snp 1478.77 1/1 31 59 6 53 0.9 intergenic rs9276571 HLA-DQB1 AR,AD,AO 0.479034 0.5228 0.4568 0.5087 Uncertain 6_32725625_T->C 6 32725625 32725625 T C snp 1564.77 1/1 37 64 6 58 0.91 intergenic rs9276572 HLA-DQB1 AR,AD,AO 0.4567 0.5088 0.03 T 1.000 P -0.763 T 0.958 D 0.665 D Uncertain 6_32725672_-->G 6 32725672 32725672 - G indel 3534.73 1/1 99 90 0 90 1.0 intergenic rs113687021 HLA-DQB1 AR,AD,AO 0.722843 0.8452 0.6916 0.8425 Uncertain 6_32725673_A->C 6 32725673 32725673 A C snp 2536.77 1/1 99 92 0 92 1.0 intergenic rs9276574 HLA-DQB1 AR,AD,AO 0.722843 0.8452 0.7023 0.8503 Uncertain 6_32725826_A->G 6 32725826 32725826 A G snp 984.77 1/1 72 28 0 28 1.0 intergenic rs4305772 HLA-DQB1 AR,AD,AO 0.714657 0.8393 Uncertain 6_32726577_G->T 6 32726577 32726577 G T snp 1899.77 1/1 99 61 0 61 1.0 intergenic rs3213483 HLA-DQB1 AR,AD,AO 0.637979 0.751 0.6214 0.8212 Uncertain 6_32726803_C->T 6 32726803 32726803 C T snp 3844.77 1/1 63 148 15 133 0.9 intergenic rs1049110 HLA-DQB1 AR,AD,AO 0.4656 0.5509 0.02 T 0.0 P -0.925 T 0.666 T 0.057 P Uncertain 6_32726838_C->T 6 32726838 32726838 C T snp 3834.77 1/1 99 133 0 133 1.0 intergenic rs17850863 HLA-DQB1 AR,AD,AO 0.6942 0.8281 1.000 P -1.076 T Uncertain 6_32727004_A->G 6 32727004 32727004 A G snp 2439.77 1/1 99 88 0 88 1.0 intergenic rs9276579 HLA-DQB1 AR,AD,AO 0.715056 0.8185 Uncertain 6_32729335_T->C 6 32729335 32729335 T C snp 593.77 1/1 45 18 0 18 1.0 intergenic rs2395261 HLA-DQB1 AR,AD,AO 0.699081 0.8075 Uncertain 6_32729382_A->- 6 32729382 32729382 A - indel 2239.73 1/1 99 54 0 54 1.0 intergenic rs34694311 HLA-DQB1 AR,AD,AO 0.699681 0.8075 Uncertain 6_32729412_C->A 6 32729412 32729412 C A snp 2566.77 1/1 99 99 2 97 0.98 intergenic rs2395263 HLA-DQB1 AR,AD,AO 0.695487 0.8036 0.6914 0.8372 Uncertain 6_32729459_C->T 6 32729459 32729459 C T snp 4938.77 1/1 99 207 3 204 0.99 intergenic rs2071551 HLA-DQB1 AR,AD,AO 0.741414 0.873 0.7192 0.8720 0.0 P -1.028 T Uncertain 6_32729642_G->C 6 32729642 32729642 G C snp 3893.77 1/1 99 139 0 139 1.0 intergenic rs762815 HLA-DQB1 AR,AD,AO 0.741414 0.873 0.6820 0.8650 0.026 P -1.039 T Uncertain 6_32729734_C->G 6 32729734 32729734 C G snp 892.77 1/1 66 28 0 28 1.0 intergenic rs2008560 HLA-DQB1 AR,AD,AO 0.708866 0.8542 0.6110 0.8492 Uncertain 6_32731258_G->A 6 32731258 32731258 G A snp 5402.77 1/1 99 210 1 209 1.0 intergenic rs1573649 HLA-DQB1 AR,AD,AO 0.614816 0.7143 0.5896 0.7408 Uncertain 6_32731439_G->A 6 32731439 32731439 G A snp 795.77 1/1 60 20 0 20 1.0 intergenic rs1573648 HLA-DQB1 AR,AD,AO 0.653355 0.7798 Uncertain 6_32732677_A->T 6 32732677 32732677 A T snp 1284.77 0/1 99 107 49 58 0.54 intergenic rs9348894 HLA-DQB1 AR,AD,AO 0.321086 0.4375 Uncertain 6_32782028_A->- 6 32782028 32782028 A - indel 304.73 0/1 99 15 6 9 0.6 intergenic HLA-DQB1 AR,AD,AO 0.169329 0.2262 Uncertain 6_32782030_A->C 6 32782030 32782030 A C snp 225.77 0/1 99 15 6 9 0.6 intergenic HLA-DQB1 AR,AD,AO 0.169329 0.2262 Uncertain 6_32782387_G->A 6 32782387 32782387 G A snp 365.77 0/1 99 38 20 18 0.47 intergenic HLA-DQB1 AR,AD,AO 0.228435 0.2421 0.192982 0.2458 0.2563 Uncertain 6_32784620_C->T 6 32784620 32784620 C T snp 1107.77 0/1 99 98 46 52 0.53 intergenic HLA-DQB1 AR,AD,AO 0.308906 0.3651 0.242891 0.3308 0.3700 Uncertain 6_32784753_T->C 6 32784753 32784753 T C snp 872.77 0/1 99 60 21 39 0.65 intergenic HLA-DQB1 AR,AD,AO 0.308906 0.3651 0.242949 0.3328 0.3735 Uncertain 6_32784783_C->T 6 32784783 32784783 C T snp 1125.77 1/1 81 38 0 38 1.0 intergenic HLA-DQB1 AR,AD,AO 0.403155 0.5506 Uncertain 6_32796653_C->A 6 32796653 32796653 C A snp 963.77 0/1 99 83 44 39 0.47 intergenic HLA-DQB1 AR,AD,AO 0.300519 0.3681 0.160750 0.3489 0.4124 Uncertain 6_32796685_A->G 6 32796685 32796685 A G snp 1379.77 0/1 99 129 73 56 0.43 intergenic rs241448 HLA-DQB1 AR,AD,AO 0.311102 0.3681 0.180231 0.3494 0.4094 1.0 P CLINSIG=non-pathogenic;CLNDBN=PEPTIDE_TRANSPORTER_PSF2_POLYMORPHISM;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000014729.1;CLNDSDB=.;CLNDSDBID=. ID=CM920660;DIS=Diabetes, type 1, association with;TAG=DP;PUB=1570316 DP Uncertain 6_32796751_T->C 6 32796751 32796751 T C snp 1967.77 0/1 99 175 92 83 0.47 intergenic rs241447 HLA-DQB1 AR,AD,AO 0.301717 0.369 0.194240 0.3633 0.4343 0.01 T 0.013 P -0.902 T 0.193 T 0.036 T CLINSIG=non-pathogenic;CLNDBN=PEPTIDE_TRANSPORTER_PSF2_POLYMORPHISM;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000014728.1;CLNDSDB=.;CLNDSDBID=. ID=CM920659;DIS=Diabetes, type 1, association with;TAG=DP;PUB=1570316 DP Uncertain 6_32796967_G->A 6 32796967 32796967 G A snp 318.77 0/1 51 11 2 9 0.82 intergenic HLA-DQB1 AR,AD,AO 0.301118 0.3681 Uncertain 6_32797072_C->T 6 32797072 32797072 C T snp 86.28 1/1 9 3 0 3 1.0 intergenic HLA-DQB1 AR,AD,AO 0.300719 0.3671 Uncertain 6_32797109_G->A 6 32797109 32797109 G A snp 274.77 0/1 91 12 3 9 0.75 intergenic HLA-DQB1 AR,AD,AO 0.300719 0.3681 Uncertain 6_32797115_T->G 6 32797115 32797115 T G snp 275.77 0/1 99 13 4 9 0.69 intergenic HLA-DQB1 AR,AD,AO 0.358826 0.4008 Uncertain 6_32797168_G->A 6 32797168 32797168 G A snp 519.77 0/1 99 44 23 21 0.48 intergenic HLA-DQB1 AR,AD,AO 0.291534 0.3651 0.233497 0.3377 0.4117 Uncertain 6_32797297_T->C 6 32797297 32797297 T C snp 1170.77 0/1 99 130 74 56 0.43 intergenic HLA-DQB1 AR,AD,AO 0.299121 0.3621 0.236352 0.2978 0.3674 Uncertain 6_32797361_C->T 6 32797361 32797361 C T snp 1010.77 0/1 99 109 61 48 0.44 intergenic HLA-DQB1 AR,AD,AO 0.290335 0.3621 0.225358 0.2888 0.3603 Uncertain 6_32797488_C->T 6 32797488 32797488 C T snp 49.77 0/1 78 27 22 5 0.19 intergenic HLA-DQB1 AR,AD,AO 0.768371 0.8294 Uncertain 6_32797537_T->G 6 32797537 32797537 T G snp 162.77 0/1 99 18 12 6 0.33 intergenic HLA-DQB1 AR,AD,AO 0.423722 0.5298 Uncertain 6_32797620_C->T 6 32797620 32797620 C T snp 570.77 0/1 99 48 26 22 0.46 intergenic HLA-DQB1 AR,AD,AO 0.374601 0.5169 Uncertain 6_32797684_A->G 6 32797684 32797684 A G snp 759.77 0/1 99 93 59 34 0.37 intergenic HLA-DQB1 AR,AD,AO 0.409345 0.5377 0.349846 0.4128 0.5564 Uncertain 6_32797809_C->T 6 32797809 32797809 C T snp 1131.77 0/1 99 76 30 46 0.61 intergenic HLA-DQB1 AR,AD,AO 0.0796725 0.0923 0.098104 0.0802 0.0971 0.25 T 0.916 D -0.810 T 0.39 T 0.118 T ID=CM941307;DIS=Rheumatoid arthritis, association with;TAG=DP;PUB=8162639 DP Uncertain 6_32797876_A->G 6 32797876 32797876 A G snp 418.77 0/1 99 34 19 15 0.44 intergenic HLA-DQB1 AR,AD,AO 0.434305 0.5496 0.400545 0.4812 0.5508 Uncertain 6_32798711_T->C 6 32798711 32798711 T C snp 86.77 0/1 33 5 2 3 0.6 intergenic HLA-DQB1 AR,AD,AO 0.546526 0.5556 Uncertain 6_32800224_C->A 6 32800224 32800224 C A snp 702.77 0/1 99 54 26 28 0.52 intergenic HLA-DQB1 AR,AD,AO 0.244209 0.248 0.242769 0.2546 0.2463 Uncertain 6_32803316_A->G 6 32803316 32803316 A G snp 902.77 1/1 66 28 0 28 1.0 intergenic HLA-DQB1 AR,AD,AO 0.816693 0.8819 Uncertain 6_32805306_C->T 6 32805306 32805306 C T snp 1060.77 0/1 99 73 29 44 0.6 intergenic HLA-DQB1 AR,AD,AO 0.0654952 0.1538 0.028448 0.0619 0.1710 Uncertain 6_32811530_A->C 6 32811530 32811530 A C snp 44.77 0/1 33 3 1 2 0.67 upstream PSMB8-AS1 AU 0.0726837 0.0645 Uncertain 6_32811645_A->G 6 32811645 32811645 A G snp 1136.77 0/1 99 84 34 50 0.6 upstream PSMB8-AS1 AU 0.0545128 0.0625 0.036637 0.0538 0.0600 Uncertain 6_32813279_C->A 6 32813279 32813279 C A snp 1507.77 0/1 99 119 59 60 0.5 ncRNA_exonic PSMB8-AS1 AU 0.0908546 0.126 Uncertain 6_32814659_A->G 6 32814659 32814659 A G snp 35.77 0/1 64 7 5 2 0.29 downstream PSMB8-AS1 AU 0.182907 0.1319 Uncertain 6_32814975_T->C 6 32814975 32814975 T C snp 1180.77 0/1 99 109 59 50 0.46 downstream rs1135216 PSMB8-AS1 AU 0.191494 0.1319 0.169986 0.1739 0.1548 1 T 0.028 P -1.000 T 0.0 T 0.0 T CLINSIG=non-pathogenic;CLNDBN=PEPTIDE_TRANSPORTER_PSF1_POLYMORPHISM;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000014733.1;CLNDSDB=.;CLNDSDBID=. ID=CM920657;DIS=Nasopharyngeal carcinoma, reduced risk, association with;TAG=DP;PUB=17498556 DP Uncertain 6_32816700_C->A 6 32816700 32816700 C A snp 109.77 0/1 99 17 11 6 0.35 intergenic PSMB8-AS1 AU 0.215455 0.1815 Uncertain 6_32816958_G->A 6 32816958 32816958 G A snp 909.77 0/1 99 68 30 38 0.56 intergenic PSMB8-AS1 AU 0.742212 0.6796 Uncertain 6_32816998_T->C 6 32816998 32816998 T C snp 519.77 0/1 99 34 15 19 0.56 intergenic PSMB8-AS1 AU 0.228435 0.2083 Uncertain 6_32818774_T->C 6 32818774 32818774 T C snp 665.77 0/1 99 62 35 27 0.44 intergenic rs1057141 PSMB8-AS1 AU 0.228235 0.2083 0.196137 0.2047 0.2192 0.65 T 0.0 P -0.969 T 0.0 T 0.003 T CLINSIG=non-pathogenic;CLNDBN=PEPTIDE_TRANSPORTER_PSF1_POLYMORPHISM;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000014732.1;CLNDSDB=.;CLNDSDBID=. ID=CM920656;DIS=Nasopharyngeal carcinoma, reduced risk, association with;TAG=DP;PUB=17498556 DP Uncertain 6_32818991_C->A 6 32818991 32818991 C A snp 687.77 0/1 99 42 16 26 0.62 intergenic PSMB8-AS1 AU 0.024361 0.0595 Uncertain 6_32819699_T->A 6 32819699 32819699 T A snp 54.74 1/1 6 2 0 2 1.0 intergenic PSMB8-AS1 AU Uncertain 6_32819701_T->A 6 32819701 32819701 T A snp 46.74 1/1 6 2 0 2 1.0 intergenic PSMB8-AS1 AU Uncertain 6_32819751_G->T 6 32819751 32819751 G T snp 148.77 0/1 99 18 10 8 0.44 intergenic PSMB8-AS1 AU 0.135783 0.2024 Uncertain 6_32819865_T->C 6 32819865 32819865 T C snp 731.77 0/1 99 84 54 30 0.36 intergenic PSMB8-AS1 AU 0.135982 0.2024 0.102607 0.1404 0.2165 Uncertain 6_32821709_G->- 6 32821709 32821709 G - indel 375.73 0/1 99 26 11 15 0.58 intergenic PSMB8-AS1 AU 0.0285543 0.0625 Uncertain 6_32822269_A->C 6 32822269 32822269 A C snp 72.77 0/1 99 7 4 3 0.43 intergenic PSMB8-AS1 AU 0.426318 0.3948 Uncertain 6_32823771_G->A 6 32823771 32823771 G A snp 293.77 0/1 99 29 16 13 0.45 intergenic PSMB8-AS1 AU 0.028754 0.0625 Uncertain 6_32826233_A->G 6 32826233 32826233 A G snp 756.77 0/1 99 65 30 35 0.54 intergenic PSMB8-AS1 AU 0.100439 0.2093 0.030932 0.0742 0.2223 Uncertain 6_32844922_G->A 6 32844922 32844922 G A snp 92.77 0/1 99 14 10 4 0.29 intergenic PSMB8-AS1 AU 0.338259 0.2798 0.3208 0.3017 0.71 T 0.0 P -0.976 T Uncertain 6_32847310_C->- 6 32847310 32847310 C - indel 3210.73 0/1 99 225 124 101 0.45 intergenic PSMB8-AS1 AU 0.330871 0.2758 0.3529 0.2780 Uncertain 6_32916540_-->CTT 6 32916540 32916540 - CTT indel 1855.73 0/1 99 62 25 37 0.6 intergenic rs3833947 PSMB8-AS1 AU 0.925719 0.8065 Uncertain 6_32939894_G->T 6 32939894 32939894 G T snp 1656.77 0/1 99 111 49 62 0.56 intergenic PSMB8-AS1 AU 0.914736 0.8046 0.9366 0.8402 Uncertain 6_32940142_C->T 6 32940142 32940142 C T snp 202.77 0/1 99 22 12 10 0.45 intergenic PSMB8-AS1 AU 0.0593051 0.0427 Uncertain 6_32942302_G->A 6 32942302 32942302 G A snp 1698.77 0/1 99 131 61 70 0.53 intergenic PSMB8-AS1 AU 0.609225 0.504 0.657543 0.5882 0.5153 1.0 P -1.074 T Uncertain 6_32943151_T->C 6 32943151 32943151 T C snp 548.77 0/1 99 28 6 22 0.79 intergenic PSMB8-AS1 AU 0.609225 0.504 0.661730 0.6097 0.5406 Uncertain 6_32944987_A->G 6 32944987 32944987 A G snp 2121.77 0/1 99 180 94 86 0.48 intergenic PSMB8-AS1 AU 0.926118 0.8085 0.9640 0.8444 Uncertain 6_32945530_G->C 6 32945530 32945530 G C snp 7236.77 1/1 99 250 0 250 1.0 intergenic PSMB8-AS1 AU 0.979832 0.995 0.940479 0.9512 0.9949 Uncertain 6_32946034_T->C 6 32946034 32946034 T C snp 1289.77 0/1 99 101 45 56 0.55 intergenic PSMB8-AS1 AU 0.0595048 0.0427 0.043375 0.0340 0.0565 1 D -0.969 T Uncertain 6_32948031_G->A 6 32948031 32948031 G A snp 720.77 0/1 99 50 26 24 0.48 intergenic PSMB8-AS1 AU 0.0593051 0.0427 Uncertain 6_32948296_G->C 6 32948296 32948296 G C snp 1974.77 0/1 99 161 80 81 0.5 intergenic PSMB8-AS1 AU 0.123403 0.0942 Uncertain 6_32974401_G->T 6 32974401 32974401 G T snp 46.77 0/1 31 3 1 2 0.67 intergenic PSMB8-AS1 AU 0.406949 0.5546 Uncertain 6_32974934_G->A 6 32974934 32974934 G A snp 2187.77 0/1 99 170 81 89 0.52 intergenic PSMB8-AS1 AU 0.166534 0.3492 0.158720 0.2090 0.4045 Uncertain 6_32975014_T->C 6 32975014 32975014 T C snp 1701.77 0/1 99 146 74 72 0.49 intergenic PSMB8-AS1 AU 0.392173 0.5496 0.397292 0.4051 0.5687 Uncertain 6_32975257_C->T 6 32975257 32975257 C T snp 3075.77 0/1 99 250 125 125 0.5 intergenic PSMB8-AS1 AU 0.392173 0.5496 0.403318 0.4053 0.5699 Uncertain 6_32975381_A->G 6 32975381 32975381 A G snp 4333.77 1/1 99 137 0 137 1.0 intergenic PSMB8-AS1 AU 0.590455 0.7044 0.574579 0.5551 0.7045 Uncertain 6_32975720_G->A 6 32975720 32975720 G A snp 342.77 0/1 99 16 5 11 0.69 intergenic PSMB8-AS1 AU 0.188898 0.3542 Uncertain 6_32975869_G->A 6 32975869 32975869 G A snp 3123.77 0/1 99 250 130 120 0.48 intergenic PSMB8-AS1 AU 0.188299 0.3542 0.200237 0.2357 0.4092 0.05 T 0.173 P -1.018 T Uncertain 6_32977315_A->G 6 32977315 32977315 A G snp 723.77 0/1 99 65 33 32 0.49 intergenic PSMB8-AS1 AU 0.17512 0.1399 0.180137 0.2172 0.1619 Uncertain 6_33036287_G->A 6 33036287 33036287 G A snp 272.8 1/1 21 10 0 10 1.0 intergenic PSMB8-AS1 AU 0.438898 0.6786 Uncertain 6_33036288_G->A 6 33036288 33036288 G A snp 339.78 1/1 27 11 0 11 1.0 intergenic PSMB8-AS1 AU 0.438898 0.6786 Uncertain 6_33036312_A->G 6 33036312 33036312 A G snp 720.77 1/1 54 23 0 23 1.0 intergenic PSMB8-AS1 AU 0.438898 0.6786 Uncertain 6_33036318_T->C 6 33036318 33036318 T C snp 729.77 1/1 54 24 0 24 1.0 intergenic PSMB8-AS1 AU 0.194489 0.5466 Uncertain 6_33036388_C->T 6 33036388 33036388 C T snp 1889.77 1/1 99 69 0 69 1.0 intergenic PSMB8-AS1 AU 0.43111 0.6637 0.2376 0.6431 Uncertain 6_33036394_G->A 6 33036394 33036394 G A snp 1894.77 1/1 99 72 0 72 1.0 intergenic PSMB8-AS1 AU 0.430711 0.6637 0.2393 0.6449 Uncertain 6_33036399_-->T 6 33036399 33036399 - T indel 2318.73 1/1 99 69 0 69 1.0 intergenic PSMB8-AS1 AU 0.406949 0.6369 0.245165 0.2398 0.6452 Uncertain 6_33036401_C->T 6 33036401 33036401 C T snp 2025.77 1/1 99 72 0 72 1.0 intergenic PSMB8-AS1 AU 0.434305 0.6657 0.2453 0.6469 Uncertain 6_33036435_T->G 6 33036435 33036435 T G snp 3475.77 1/1 99 130 0 130 1.0 intergenic PSMB8-AS1 AU 0.4373 0.6746 0.244542 0.2471 0.6733 1 T 0.000 P -1.001 T 0.0 T 0.0 T Uncertain 6_33036505_G->C 6 33036505 33036505 G C snp 4016.77 1/1 99 160 0 160 1.0 intergenic PSMB8-AS1 AU 0.475439 0.6796 0.317018 0.2579 0.6759 1.000 P -1.073 T Uncertain 6_33036617_C->T 6 33036617 33036617 C T snp 1577.77 1/1 99 47 0 47 1.0 intergenic PSMB8-AS1 AU 0.439297 0.6796 0.282258 0.2468 0.6750 Uncertain 6_33036630_G->T 6 33036630 33036630 G T snp 1378.77 1/1 99 39 0 39 1.0 intergenic PSMB8-AS1 AU 0.439297 0.6796 0.266303 0.2440 0.6681 Uncertain 6_33036631_A->C 6 33036631 33036631 A C snp 1363.77 1/1 99 39 0 39 1.0 intergenic PSMB8-AS1 AU 0.439297 0.6796 0.267963 0.2439 0.6684 Uncertain 6_33036708_C->T 6 33036708 33036708 C T snp 94.28 1/1 9 4 0 4 1.0 intergenic PSMB8-AS1 AU 0.439297 0.6796 Uncertain 6_33036709_A->G 6 33036709 33036709 A G snp 99.28 1/1 9 4 0 4 1.0 intergenic PSMB8-AS1 AU 0.439297 0.6796 Uncertain 6_33036717_C->G 6 33036717 33036717 C G snp 252.8 1/1 21 7 0 7 1.0 intergenic PSMB8-AS1 AU 0.439297 0.6796 Uncertain 6_33036853_A->C 6 33036853 33036853 A C snp 5237.77 1/1 99 188 0 188 1.0 intergenic PSMB8-AS1 AU 0.438099 0.6786 0.282887 0.2481 0.6772 1 T 0.0 P -0.939 T 0.0 T 0.001 T Uncertain 6_33036951_A->G 6 33036951 33036951 A G snp 6601.77 1/1 99 233 0 233 1.0 intergenic PSMB8-AS1 AU 0.439097 0.6796 0.278041 0.2474 0.6738 1 T 0.0 P -0.965 T 0.0 T 0.0 T Uncertain 6_33036959_G->A 6 33036959 33036959 G A snp 6513.77 1/1 99 224 1 223 1.0 intergenic PSMB8-AS1 AU 0.439097 0.6796 0.282361 0.2477 0.6736 1.000 P -1.046 T Uncertain 6_33036971_C->T 6 33036971 33036971 C T snp 6483.77 1/1 99 221 0 221 1.0 intergenic PSMB8-AS1 AU 0.438898 0.6796 0.282547 0.2476 0.6732 1.000 P -0.978 T Uncertain 6_33036977_G->A 6 33036977 33036977 G A snp 6442.77 1/1 99 215 0 215 1.0 intergenic PSMB8-AS1 AU 0.170927 0.5298 0.070192 0.0734 0.5433 1.000 P -0.991 T Uncertain 6_33036999_T->C 6 33036999 33036999 T C snp 6028.77 1/1 99 207 0 207 1.0 intergenic PSMB8-AS1 AU 0.430911 0.6508 0.277514 0.2443 0.6499 0.02 T 0.020 P -1.019 T 0.061 T 0.102 T Uncertain 6_33037061_G->C 6 33037061 33037061 G C snp 3835.77 1/1 99 137 0 137 1.0 intergenic PSMB8-AS1 AU 0.170927 0.5298 0.069870 0.0730 0.5398 Uncertain 6_33037080_G->A 6 33037080 33037080 G A snp 3275.77 1/1 99 123 2 121 0.98 intergenic PSMB8-AS1 AU 0.439097 0.6796 0.006406 0.2442 0.6572 Uncertain 6_33037082_A->G 6 33037082 33037082 A G snp 3216.73 1/1 99 120 2 118 0.98 intergenic PSMB8-AS1 AU 0.439097 0.6796 0.004389 0.2442 0.6573 Uncertain 6_33037104_C->T 6 33037104 33037104 C T snp 2765.77 1/1 99 103 1 102 0.99 intergenic PSMB8-AS1 AU 0.439297 0.6796 0.277106 0.2395 0.6590 Uncertain 6_33037142_A->G 6 33037142 33037142 A G snp 1790.77 1/1 99 60 0 60 1.0 intergenic PSMB8-AS1 AU 0.439297 0.6796 Uncertain 6_33037187_C->G 6 33037187 33037187 C G snp 813.77 1/1 60 23 0 23 1.0 intergenic PSMB8-AS1 AU 0.44369 0.6865 Uncertain 6_33037412_G->C 6 33037412 33037412 G C snp 826.77 1/1 60 25 0 25 1.0 intergenic PSMB8-AS1 AU 0.439097 0.6796 0.2433 0.6573 Uncertain 6_33037413_C->A 6 33037413 33037413 C A snp 828.77 1/1 60 25 0 25 1.0 intergenic PSMB8-AS1 AU 0.439097 0.6796 0.2432 0.6566 Uncertain 6_33037419_G->A 6 33037419 33037419 G A snp 952.77 1/1 69 32 0 32 1.0 intergenic PSMB8-AS1 AU 0.439297 0.6796 0.276013 0.2433 0.6566 Uncertain 6_33037424_T->C 6 33037424 33037424 T C snp 1032.77 1/1 75 34 0 34 1.0 intergenic PSMB8-AS1 AU 0.439097 0.6796 0.2433 0.6564 0.22 T 0.0 P -0.936 T 0.0 T 0.001 T Uncertain 6_33037522_T->C 6 33037522 33037522 T C snp 2876.77 1/1 99 110 0 110 1.0 intergenic PSMB8-AS1 AU 0.438498 0.6796 0.280213 0.2467 0.6750 0.97 T 0.0 P -1.017 T 0.0 T 0.0 T Uncertain 6_33037579_A->T 6 33037579 33037579 A T snp 3030.77 1/1 99 116 1 115 0.99 intergenic PSMB8-AS1 AU 0.43111 0.6508 0.007348 0.2399 0.6425 0.27 T 0.0 P -0.990 T 0.154 T 0.404 T Uncertain 6_33037580_T->G 6 33037580 33037580 T G snp 3048.77 1/1 99 113 0 113 1.0 intergenic PSMB8-AS1 AU 0.43111 0.6508 0.006163 0.2399 0.6421 1 T 0.0 P -0.903 T 0.0 T 0.001 T Uncertain 6_33037611_C->T 6 33037611 33037611 C T snp 2934.77 1/1 99 123 1 122 0.99 intergenic PSMB8-AS1 AU 0.202875 0.5774 0.077744 0.0886 0.5718 Uncertain 6_33037626_C->G 6 33037626 33037626 C G snp 2853.77 1/1 99 108 1 107 0.99 intergenic PSMB8-AS1 AU 0.461062 0.6518 0.272404 0.2252 0.6377 Uncertain 6_33037639_G->A 6 33037639 33037639 G A snp 2701.77 1/1 99 98 0 98 1.0 intergenic PSMB8-AS1 AU 0.23742 0.5496 0.078710 0.0933 0.5230 1 T 0.0 P -0.902 T 0.008 T 0.004 T Uncertain 6_33037640_C->T 6 33037640 33037640 C T snp 2691.77 1/1 99 97 0 97 1.0 intergenic PSMB8-AS1 AU 0.23742 0.5496 0.077881 0.0933 0.5230 0.72 T 0.0 P -0.950 T 0.001 T 0.005 T Uncertain 6_33037675_C->A 6 33037675 33037675 C A snp 2043.77 1/1 99 77 0 77 1.0 intergenic PSMB8-AS1 AU 0.480032 0.6796 0.304410 0.2487 0.6477 Uncertain 6_33037690_C->T 6 33037690 33037690 C T snp 1919.77 1/1 99 68 0 68 1.0 intergenic PSMB8-AS1 AU 0.429912 0.6508 0.269504 0.2305 0.6218 Uncertain 6_33037768_G->A 6 33037768 33037768 G A snp 512.77 1/1 39 21 0 21 1.0 intergenic PSMB8-AS1 AU 0.422524 0.6508 Uncertain 6_33041176_C->T 6 33041176 33041176 C T snp 415.77 1/1 33 11 0 11 1.0 intergenic PSMB8-AS1 AU 0.438498 0.6806 Uncertain 6_33041186_G->A 6 33041186 33041186 G A snp 473.77 1/1 36 12 0 12 1.0 intergenic PSMB8-AS1 AU 0.430711 0.6518 Uncertain 6_33041226_C->T 6 33041226 33041226 C T snp 1142.77 1/1 84 35 0 35 1.0 intergenic PSMB8-AS1 AU 0.444888 0.6806 0.287441 0.2502 0.6786 Uncertain 6_33043930_A->G 6 33043930 33043930 A G snp 3296.77 1/1 99 106 0 106 1.0 intergenic PSMB8-AS1 AU 0.444688 0.6815 0.268374 0.2934 0.6796 Uncertain 6_33048538_T->C 6 33048538 33048538 T C snp 6910.77 1/1 99 248 0 248 1.0 intergenic PSMB8-AS1 AU 0.114417 0.4901 0.019787 0.0587 0.5189 0.16 T 0.0 P -1.041 T 0.003 T 0.012 T Uncertain 6_33048542_C->T 6 33048542 33048542 C T snp 6799.77 1/1 99 250 0 250 1.0 intergenic PSMB8-AS1 AU 0.585064 0.8452 0.481043 0.5366 0.8547 1 T 0.0 P -0.933 T 0.0 T 0.0 T Uncertain 6_33048599_C->A 6 33048599 33048599 C A snp 5707.77 1/1 99 208 0 208 1.0 intergenic PSMB8-AS1 AU 0.585663 0.8393 0.480213 0.5333 0.8253 1 T 0.0 P -0.975 T 0.0 T 0.001 T Uncertain 6_33048600_T->G 6 33048600 33048600 T G snp 5722.77 1/1 99 208 0 208 1.0 intergenic PSMB8-AS1 AU 0.119808 0.498 0.022630 0.0605 0.4981 0.000 P -1.000 T Uncertain 6_33048686_G->A 6 33048686 33048686 G A snp 3055.77 1/1 99 110 0 110 1.0 intergenic PSMB8-AS1 AU 0.480232 0.63 0.3215 0.6095 0.33 T 0.0 P -1.055 T 0.0 T 0.054 T Uncertain 6_33048689_G->A 6 33048689 33048689 G A snp 2865.77 1/1 99 101 0 101 1.0 intergenic PSMB8-AS1 AU 0.480232 0.63 0.3214 0.6066 1 T 1 N -1.005 T 0.001 T 0.012 T Uncertain 6_33048691_C->G 6 33048691 33048691 C G snp 2890.77 1/1 99 101 0 101 1.0 intergenic PSMB8-AS1 AU 0.480232 0.63 0.3211 0.6057 0.29 T 1 N -1.011 T 0.0 T 0.0 T Uncertain 6_33048694_A->G 6 33048694 33048694 A G snp 2893.77 1/1 99 102 0 102 1.0 intergenic PSMB8-AS1 AU 0.480831 0.63 0.3215 0.6039 0.24 T 0.0 P -1.007 T 0.0 T 0.0 T Uncertain 6_33048735_C->G 6 33048735 33048735 C G snp 1835.77 1/1 99 59 0 59 1.0 intergenic PSMB8-AS1 AU 0.0910543 0.4018 0.009797 0.0572 0.4527 Uncertain 6_33052677_A->G 6 33052677 33052677 A G snp 1952.77 1/1 99 63 0 63 1.0 intergenic PSMB8-AS1 AU 0.468251 0.621 0.0002 0 Uncertain 6_33052695_T->G 6 33052695 33052695 T G snp 2976.77 1/1 99 97 0 97 1.0 intergenic PSMB8-AS1 AU 0.1846 0.4163 Uncertain 6_33052711_T->C 6 33052711 33052711 T C snp 3558.77 1/1 99 124 0 124 1.0 intergenic PSMB8-AS1 AU 0.2027 0.4956 Uncertain 6_33052717_A->C 6 33052717 33052717 A C snp 3669.77 1/1 99 126 0 126 1.0 intergenic PSMB8-AS1 AU 0.458666 0.6181 0.2589 0.5097 Uncertain 6_33052719_G->A 6 33052719 33052719 G A snp 3804.77 1/1 99 130 0 130 1.0 intergenic PSMB8-AS1 AU 0.458666 0.6181 0.2597 0.5122 Uncertain 6_33052723_C->G 6 33052723 33052723 C G snp 4191.77 1/1 99 141 0 141 1.0 intergenic PSMB8-AS1 AU 0.458666 0.6181 0.2616 0.5163 Uncertain 6_33052736_G->A 6 33052736 33052736 G A snp 4898.77 1/1 99 169 0 169 1.0 intergenic PSMB8-AS1 AU 0.2923 0.5731 1 T 0.0 P -0.990 T 0.0 T 0.0 T Uncertain 6_33052743_T->C 6 33052743 33052743 T C snp 5070.77 1/1 99 177 0 177 1.0 intergenic PSMB8-AS1 AU 0.2944 0.5804 0.0 P -1.034 T Uncertain 6_33052768_T->C 6 33052768 33052768 T C snp 5491.77 1/1 99 202 0 202 1.0 intergenic PSMB8-AS1 AU 0.463658 0.621 0.3206 0.6233 Uncertain 6_33052803_G->A 6 33052803 33052803 G A snp 5366.77 1/1 99 195 0 195 1.0 intergenic PSMB8-AS1 AU 0.463658 0.621 0.390521 0.3265 0.6288 1.000 P -1.010 T Uncertain 6_33052950_T->C 6 33052950 33052950 T C snp 3554.77 1/1 99 130 0 130 1.0 intergenic PSMB8-AS1 AU 0.461661 0.6171 0.389692 0.3253 0.6263 0.969 P -1.038 T Uncertain 6_33052958_C->T 6 33052958 33052958 C T snp 3107.77 1/1 99 117 1 116 0.99 intergenic PSMB8-AS1 AU 0.463658 0.621 0.390588 0.3267 0.6267 0.1 T 1.000 P -1.059 T 0.193 T 0.213 T Uncertain 6_33052986_T->C 6 33052986 33052986 T C snp 2747.77 1/1 99 97 0 97 1.0 intergenic PSMB8-AS1 AU 0.463658 0.621 0.390140 0.3305 0.6284 0.0 P -1.011 T Uncertain 6_33053026_C->G 6 33053026 33053026 C G snp 2103.77 1/1 99 70 0 70 1.0 intergenic PSMB8-AS1 AU 0.327476 0.6161 0.276790 0.2622 0.6228 Uncertain 6_33053092_C->T 6 33053092 33053092 C T snp 821.77 1/1 63 25 0 25 1.0 intergenic PSMB8-AS1 AU 0.0936502 0.3889 Uncertain 6_33053121_C->T 6 33053121 33053121 C T snp 304.78 1/1 24 8 0 8 1.0 intergenic PSMB8-AS1 AU 0.0864617 0.374 Uncertain 6_33053444_G->C 6 33053444 33053444 G C snp 99.28 1/1 9 3 0 3 1.0 intergenic PSMB8-AS1 AU 0.463658 0.621 Uncertain 6_33053455_C->T 6 33053455 33053455 C T snp 256.8 1/1 21 7 0 7 1.0 intergenic PSMB8-AS1 AU 0.463658 0.621 Uncertain 6_33053468_G->T 6 33053468 33053468 G T snp 387.77 1/1 30 11 0 11 1.0 intergenic PSMB8-AS1 AU 0.463658 0.621 Uncertain 6_33053477_G->C 6 33053477 33053477 G C snp 432.77 1/1 33 12 0 12 1.0 intergenic PSMB8-AS1 AU 0.463458 0.621 Uncertain 6_33053609_G->A 6 33053609 33053609 G A snp 2242.77 1/1 99 77 0 77 1.0 intergenic PSMB8-AS1 AU 0.114816 0.4018 0.043595 0.0691 0.4340 0 D 1.000 P -0.963 T 0.291 T 0.104 T Uncertain 6_33053682_G->A 6 33053682 33053682 G A snp 1951.77 1/1 99 73 0 73 1.0 intergenic PSMB8-AS1 AU 0.463658 0.621 0.381670 0.3355 0.6304 0.0 P -1.034 T Uncertain 6_33053723_T->C 6 33053723 33053723 T C snp 1517.77 1/1 99 54 0 54 1.0 intergenic PSMB8-AS1 AU 0.463658 0.621 0.3256 0.6056 Uncertain 6_33053728_C->T 6 33053728 33053728 C T snp 1550.77 1/1 99 50 0 50 1.0 intergenic PSMB8-AS1 AU 0.463658 0.621 0.3231 0.6006 Uncertain 6_33053737_G->T 6 33053737 33053737 G T snp 1287.77 1/1 96 40 0 40 1.0 intergenic PSMB8-AS1 AU 0.463658 0.621 Uncertain 6_33053739_T->C 6 33053739 33053739 T C snp 1258.77 1/1 93 37 0 37 1.0 intergenic PSMB8-AS1 AU 0.327875 0.6161 Uncertain 6_33053740_T->A 6 33053740 33053740 T A snp 1281.77 1/1 93 39 0 39 1.0 intergenic PSMB8-AS1 AU 0.463658 0.621 Uncertain 6_33053772_G->A 6 33053772 33053772 G A snp 1143.77 1/1 84 37 0 37 1.0 intergenic PSMB8-AS1 AU 0.463658 0.621 Uncertain 6_33053780_T->A 6 33053780 33053780 T A snp 1205.77 1/1 90 36 0 36 1.0 intergenic PSMB8-AS1 AU 0.463658 0.621 Uncertain 6_33053789_A->G 6 33053789 33053789 A G snp 1305.77 1/1 99 37 0 37 1.0 intergenic PSMB8-AS1 AU 0.463658 0.621 Uncertain 6_33053812_A->G 6 33053812 33053812 A G snp 1280.77 1/1 93 42 0 42 1.0 intergenic PSMB8-AS1 AU 0.326078 0.6121 Uncertain 6_33053820_A->G 6 33053820 33053820 A G snp 1633.77 1/1 99 54 0 54 1.0 intergenic PSMB8-AS1 AU 0.325679 0.6121 Uncertain 6_33053845_G->T 6 33053845 33053845 G T snp 1908.77 1/1 99 66 0 66 1.0 intergenic PSMB8-AS1 AU 0.0864617 0.374 Uncertain 6_33053868_A->G 6 33053868 33053868 A G snp 2325.77 1/1 99 82 0 82 1.0 intergenic PSMB8-AS1 AU 0.458866 0.6171 Uncertain 6_33053871_A->G 6 33053871 33053871 A G snp 2293.77 1/1 99 82 0 82 1.0 intergenic PSMB8-AS1 AU 0.458866 0.6171 Uncertain 6_33053877_G->A 6 33053877 33053877 G A snp 2441.77 1/1 99 94 2 92 0.98 intergenic PSMB8-AS1 AU Uncertain 6_33053887_A->G 6 33053887 33053887 A G snp 2833.77 1/1 99 105 0 105 1.0 intergenic PSMB8-AS1 AU 0.463658 0.621 Uncertain 6_33053890_G->A 6 33053890 33053890 G A snp 2803.77 1/1 99 107 0 107 1.0 intergenic PSMB8-AS1 AU 0.463658 0.621 Uncertain 6_33053902_A->G 6 33053902 33053902 A G snp 3032.77 1/1 99 113 0 113 1.0 intergenic PSMB8-AS1 AU 0.463658 0.621 Uncertain 6_33053906_G->T 6 33053906 33053906 G T snp 2897.77 1/1 99 115 0 115 1.0 intergenic PSMB8-AS1 AU 0.463658 0.621 Uncertain 6_33053942_T->C 6 33053942 33053942 T C snp 3417.77 1/1 99 128 0 128 1.0 intergenic PSMB8-AS1 AU 0.328075 0.6161 0.196671 Uncertain 6_33053968_T->A 6 33053968 33053968 T A snp 3293.77 1/1 99 117 0 117 1.0 intergenic PSMB8-AS1 AU 0.463658 0.621 0.191373 0.3210 0.6140 Uncertain 6_33053971_T->C 6 33053971 33053971 T C snp 3200.06 1/1 99 116 0 116 1.0 intergenic PSMB8-AS1 AU 0.463658 0.621 0.194679 0.3211 0.6141 Uncertain 6_33053982_G->C 6 33053982 33053982 G C snp 3230.05 1/1 99 116 0 116 1.0 intergenic PSMB8-AS1 AU 0.466054 0.621 0.336921 0.3266 0.6253 Uncertain 6_33054046_T->G 6 33054046 33054046 T G snp 2070.77 1/1 99 76 0 76 1.0 intergenic PSMB8-AS1 AU 0.463658 0.621 0.255805 0.3247 0.6241 Uncertain 6_33054057_G->A 6 33054057 33054057 G A snp 1933.77 1/1 99 72 0 72 1.0 intergenic PSMB8-AS1 AU 0.463658 0.621 0.326772 0.3209 0.6145 Uncertain 6_33054071_G->C 6 33054071 33054071 G C snp 1791.77 1/1 99 64 0 64 1.0 intergenic PSMB8-AS1 AU 0.461462 0.6171 Uncertain 6_33054074_C->T 6 33054074 33054074 C T snp 1741.77 1/1 99 62 0 62 1.0 intergenic PSMB8-AS1 AU 0.247804 0.5258 Uncertain 6_33054091_C->T 6 33054091 33054091 C T snp 1447.77 1/1 99 55 0 55 1.0 intergenic PSMB8-AS1 AU 0.463458 0.621 Uncertain 6_33054141_T->C 6 33054141 33054141 T C snp 634.77 1/1 48 16 0 16 1.0 intergenic PSMB8-AS1 AU 0.399561 0.5407 Uncertain 6_33054142_G->C 6 33054142 33054142 G C snp 626.77 1/1 48 16 0 16 1.0 intergenic PSMB8-AS1 AU 0.399561 0.5407 Uncertain 6_33054148_C->T 6 33054148 33054148 C T snp 629.77 1/1 48 16 0 16 1.0 intergenic PSMB8-AS1 AU 0.399561 0.5407 Uncertain 6_33054149_T->C 6 33054149 33054149 T C snp 623.77 1/1 48 16 0 16 1.0 intergenic PSMB8-AS1 AU 0.399561 0.5407 Uncertain 6_33054152_A->G 6 33054152 33054152 A G snp 638.77 1/1 48 16 0 16 1.0 intergenic PSMB8-AS1 AU 0.399561 0.5407 Uncertain 6_33054155_C->T 6 33054155 33054155 C T snp 632.77 1/1 48 16 0 16 1.0 intergenic PSMB8-AS1 AU 0.399561 0.5407 Uncertain 6_33054156_A->G 6 33054156 33054156 A G snp 647.77 1/1 48 16 0 16 1.0 intergenic PSMB8-AS1 AU 0.399561 0.5407 Uncertain 6_33054167_G->A 6 33054167 33054167 G A snp 694.77 1/1 51 19 0 19 1.0 intergenic PSMB8-AS1 AU Uncertain 6_33054176_T->A 6 33054176 33054176 T A snp 678.77 1/1 51 19 0 19 1.0 intergenic PSMB8-AS1 AU 0.386781 0.5327 Uncertain 6_33054177_T->C 6 33054177 33054177 T C snp 722.77 1/1 54 20 0 20 1.0 intergenic PSMB8-AS1 AU 0.386781 0.5327 Uncertain 6_33054207_A->G 6 33054207 33054207 A G snp 604.77 1/1 45 18 0 18 1.0 intergenic PSMB8-AS1 AU 0.377995 0.5169 Uncertain 6_33054208_C->T 6 33054208 33054208 C T snp 552.77 1/1 42 17 0 17 1.0 intergenic PSMB8-AS1 AU 0.377995 0.5169 Uncertain 6_33054215_A->C 6 33054215 33054215 A C snp 644.77 1/1 48 21 0 21 1.0 intergenic PSMB8-AS1 AU Uncertain 6_33054227_G->A 6 33054227 33054227 G A snp 694.77 1/1 51 23 0 23 1.0 intergenic PSMB8-AS1 AU 0.365016 0.498 Uncertain 6_33054231_C->T 6 33054231 33054231 C T snp 736.77 1/1 54 24 0 24 1.0 intergenic PSMB8-AS1 AU 0.365016 0.498 Uncertain 6_33054235_T->G 6 33054235 33054235 T G snp 778.77 1/1 57 25 0 25 1.0 intergenic PSMB8-AS1 AU 0.365016 0.498 Uncertain 6_33054268_C->A 6 33054268 33054268 C A snp 1157.77 1/1 84 36 0 36 1.0 intergenic PSMB8-AS1 AU 0.0351 0.1776 Uncertain 6_33054280_T->C 6 33054280 33054280 T C snp 1333.77 1/1 96 42 0 42 1.0 intergenic PSMB8-AS1 AU 0.354433 0.4732 0.0330 0.1683 Uncertain 6_33054281_G->A 6 33054281 33054281 G A snp 1374.77 1/1 99 44 0 44 1.0 intergenic PSMB8-AS1 AU 0.354433 0.4732 0.0327 0.1675 Uncertain 6_33054302_T->C 6 33054302 33054302 T C snp 1701.77 1/1 99 58 0 58 1.0 intergenic PSMB8-AS1 AU 0.376398 0.5089 0.0332 0.1716 Uncertain 6_33054325_G->C 6 33054325 33054325 G C snp 2092.77 1/1 99 78 0 78 1.0 intergenic PSMB8-AS1 AU 0.368011 0.501 0.0212 0.1616 0.04 T 0.0 P -1.016 T Uncertain 6_33054331_T->C 6 33054331 33054331 T C snp 2263.77 1/1 99 82 0 82 1.0 intergenic PSMB8-AS1 AU 0.0205 0.1599 Uncertain 6_33054342_T->A 6 33054342 33054342 T A snp 2495.77 1/1 99 94 0 94 1.0 intergenic PSMB8-AS1 AU 0.364018 0.506 0.0177 0.1481 0 D 0.000 P -0.992 T Uncertain 6_33054353_G->A 6 33054353 33054353 G A snp 2611.77 1/1 99 100 0 100 1.0 intergenic PSMB8-AS1 AU 0.365216 0.5089 0.0236 0.1532 Uncertain 6_33054355_A->C 6 33054355 33054355 A C snp 2628.77 1/1 99 100 0 100 1.0 intergenic PSMB8-AS1 AU 0.360224 0.505 0.0179 0.1532 Uncertain 6_33054373_C->T 6 33054373 33054373 C T snp 2678.77 1/1 99 102 0 102 1.0 intergenic PSMB8-AS1 AU 0.36262 0.505 0.0151 0.1384 Uncertain 6_33054381_T->C 6 33054381 33054381 T C snp 2830.77 1/1 99 104 0 104 1.0 intergenic PSMB8-AS1 AU 0.361022 0.5089 0.0139 0.1257 Uncertain 6_33054386_C->T 6 33054386 33054386 C T snp 2800.77 1/1 99 104 0 104 1.0 intergenic PSMB8-AS1 AU 0.360224 0.5079 0.0126 0.1118 Uncertain 6_33054400_T->C 6 33054400 33054400 T C snp 2775.77 1/1 99 95 0 95 1.0 intergenic PSMB8-AS1 AU 0.361621 0.5109 0.0112 0.0988 Uncertain 6_33054404_A->G 6 33054404 33054404 A G snp 2724.77 1/1 99 94 0 94 1.0 intergenic PSMB8-AS1 AU 0.361821 0.5099 Uncertain 6_33054410_A->C 6 33054410 33054410 A C snp 2677.77 1/1 99 92 0 92 1.0 intergenic PSMB8-AS1 AU 0.363618 0.5109 Uncertain 6_33054413_T->G 6 33054413 33054413 T G snp 2666.77 1/1 99 92 0 92 1.0 intergenic PSMB8-AS1 AU 0.365415 0.5149 Uncertain 6_33054414_T->A 6 33054414 33054414 T A snp 2675.77 1/1 99 92 0 92 1.0 intergenic PSMB8-AS1 AU 0.365415 0.5149 Uncertain 6_33054457_A->G 6 33054457 33054457 A G snp 2362.77 1/1 99 82 0 82 1.0 intergenic PSMB8-AS1 AU 0.46266 0.621 Uncertain 6_33054550_G->A 6 33054550 33054550 G A snp 425.77 1/1 33 11 0 11 1.0 intergenic PSMB8-AS1 AU 0.453075 0.6181 Uncertain 6_33054552_C->G 6 33054552 33054552 C G snp 429.77 1/1 33 11 0 11 1.0 intergenic PSMB8-AS1 AU 0.453075 0.6181 Uncertain 6_33054579_C->T 6 33054579 33054579 C T snp 99.28 1/1 9 3 0 3 1.0 intergenic PSMB8-AS1 AU 0.449681 0.6121 Uncertain 6_33080160_G->C 6 33080160 33080160 G C snp 2872.77 1/1 99 81 0 81 1.0 intergenic PSMB8-AS1 AU 0.101238 0.3938 Uncertain 6_33080173_T->C 6 33080173 33080173 T C snp 3769.77 1/1 99 115 0 115 1.0 intergenic PSMB8-AS1 AU 0.101038 0.3929 Uncertain 6_33080229_C->T 6 33080229 33080229 C T snp 6327.77 1/1 99 243 2 241 0.99 intergenic PSMB8-AS1 AU 0.101038 0.3929 Uncertain 6_33080237_G->C 6 33080237 33080237 G C snp 6770.77 1/1 99 245 0 245 1.0 intergenic PSMB8-AS1 AU 0.101038 0.3929 Uncertain 6_33080240_T->C 6 33080240 33080240 T C snp 6886.77 1/1 99 250 0 250 1.0 intergenic PSMB8-AS1 AU 0.101038 0.3929 Uncertain 6_33080359_C->T 6 33080359 33080359 C T snp 5967.77 1/1 99 218 0 218 1.0 intergenic PSMB8-AS1 AU 0.101038 0.3929 0.0480 0.5063 Uncertain 6_33080360_T->G 6 33080360 33080360 T G snp 5968.77 1/1 99 217 0 217 1.0 intergenic PSMB8-AS1 AU 0.101038 0.3929 0.0471 0.5026 Uncertain 6_33080427_C->T 6 33080427 33080427 C T snp 2629.77 1/1 99 78 0 78 1.0 intergenic PSMB8-AS1 AU 0.101238 0.3938 0.0270 0.4592 Uncertain 6_33101200_-->A 6 33101200 33101200 - A indel 1512.73 1/1 99 39 0 39 1.0 intergenic PSMB8-AS1 AU 0.425919 0.753 Uncertain 6_33101202_C->T 6 33101202 33101202 C T snp 1289.77 1/1 93 39 0 39 1.0 intergenic PSMB8-AS1 AU 0.426518 0.755 Uncertain 6_33101346_C->A 6 33101346 33101346 C A snp 3588.77 1/1 99 133 0 133 1.0 intergenic PSMB8-AS1 AU 0.426518 0.755 Uncertain 6_33101376_A->C 6 33101376 33101376 A C snp 2835.77 1/1 99 103 0 103 1.0 intergenic PSMB8-AS1 AU 0.426717 0.756 Uncertain 6_33101444_A->C 6 33101444 33101444 A C snp 719.77 1/1 57 22 0 22 1.0 intergenic PSMB8-AS1 AU 0.426518 0.755 Uncertain 6_33131734_A->G 6 33131734 33131734 A G snp 377.77 1/1 30 12 0 12 1.0 intergenic PSMB8-AS1 AU 0.771565 0.9613 Uncertain 6_33131893_C->T 6 33131893 33131893 C T snp 425.77 1/1 33 12 1 11 0.92 intergenic PSMB8-AS1 AU 0.270567 0.4464 Uncertain 6_33132931_C->T 6 33132931 33132931 C T snp 94.28 1/1 9 3 0 3 1.0 intergenic PSMB8-AS1 AU 0.757588 0.9504 Uncertain 6_33134102_T->C 6 33134102 33134102 T C snp 793.77 1/1 57 29 0 29 1.0 intergenic PSMB8-AS1 AU 0.771565 0.9613 Uncertain 6_33134392_C->A 6 33134392 33134392 C A snp 1257.77 1/1 93 43 0 43 1.0 intergenic PSMB8-AS1 AU 0.758387 0.9504 0.652538 0.7253 0.9695 Uncertain 6_33135391_C->T 6 33135391 33135391 C T snp 1427.77 1/1 72 54 1 53 0.98 intergenic PSMB8-AS1 AU 0.763379 0.9514 Uncertain 6_33135392_A->G 6 33135392 33135392 A G snp 1584.77 1/1 99 52 0 52 1.0 intergenic PSMB8-AS1 AU 0.88119 0.9762 Uncertain 6_33136575_C->T 6 33136575 33136575 C T snp 1272.77 1/1 93 38 0 38 1.0 intergenic PSMB8-AS1 AU 0.755391 0.9544 0.637527 0.7258 0.9697 Uncertain 6_33136638_G->A 6 33136638 33136638 G A snp 1543.77 1/1 99 62 0 62 1.0 intergenic PSMB8-AS1 AU 0.83107 0.9613 Uncertain 6_33136675_-->C 6 33136675 33136675 - C indel 2057.73 1/1 99 75 0 75 1.0 intergenic PSMB8-AS1 AU 0.623003 0.8988 Uncertain 6_33137403_C->T 6 33137403 33137403 C T snp 955.77 1/1 72 30 0 30 1.0 intergenic PSMB8-AS1 AU 0.863219 0.9544 Uncertain 6_33137570_C->T 6 33137570 33137570 C T snp 2679.77 1/1 99 91 0 91 1.0 intergenic PSMB8-AS1 AU 0.176717 0.4881 0.080194 0.1050 0.5245 Uncertain 6_33137727_C->T 6 33137727 33137727 C T snp 3150.77 1/1 99 120 0 120 1.0 intergenic PSMB8-AS1 AU 0.689297 0.9405 0.579063 Uncertain 6_33138021_G->A 6 33138021 33138021 G A snp 4472.77 1/1 99 160 0 160 1.0 intergenic PSMB8-AS1 AU 0.176717 0.4871 Uncertain 6_33138498_T->C 6 33138498 33138498 T C snp 3984.77 1/1 99 132 0 132 1.0 intergenic PSMB8-AS1 AU 0.836062 0.9484 Uncertain 6_33138747_A->- 6 33138747 33138747 A - indel 5801.73 1/1 99 135 0 135 1.0 intergenic PSMB8-AS1 AU 0.805312 0.8849 0.719716 0.7441 0.9126 Uncertain 6_33138955_G->A 6 33138955 33138955 G A snp 2782.77 1/1 99 98 1 97 0.99 intergenic PSMB8-AS1 AU 0.805312 0.8849 0.721932 0.7563 0.9129 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000039836.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 6_33139475_T->G 6 33139475 33139475 T G snp 6749.77 1/1 99 250 0 250 1.0 intergenic PSMB8-AS1 AU 0.869409 0.9623 0.773310 0.7867 0.9746 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000039834.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 6_33139662_A->G 6 33139662 33139662 A G snp 761.77 1/1 57 19 0 19 1.0 intergenic PSMB8-AS1 AU 0.869409 0.9623 Uncertain 6_33140009_T->G 6 33140009 33140009 T G snp 2544.77 1/1 99 77 0 77 1.0 intergenic PSMB8-AS1 AU 0.876997 0.9762 Uncertain 6_33140983_A->G 6 33140983 33140983 A G snp 938.77 1/1 69 32 0 32 1.0 intergenic PSMB8-AS1 AU 0.869409 0.9623 Uncertain 6_33141161_A->G 6 33141161 33141161 A G snp 1228.77 1/1 87 47 0 47 1.0 intergenic PSMB8-AS1 AU 0.878195 0.9762 0.778436 0.7871 0.9860 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000039832.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 6_33141253_T->G 6 33141253 33141253 T G snp 1430.77 1/1 99 52 0 52 1.0 intergenic PSMB8-AS1 AU 0.645168 0.7867 0.534989 0.5985 0.8220 Uncertain 6_33141389_C->T 6 33141389 33141389 C T snp 683.77 1/1 54 19 0 19 1.0 intergenic PSMB8-AS1 AU 0.651558 0.7867 Uncertain 6_33141475_C->T 6 33141475 33141475 C T snp 2444.77 1/1 99 89 0 89 1.0 intergenic PSMB8-AS1 AU 0.643171 0.7808 0.568834 0.6007 0.8206 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000039830.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 6_33141920_G->C 6 33141920 33141920 G C snp 4245.77 1/1 99 150 0 150 1.0 intergenic PSMB8-AS1 AU 0.869209 0.9623 0.767895 0.7823 0.9693 Uncertain 6_33141929_C->- 6 33141929 33141929 C - indel 4361.73 1/1 99 138 6 132 0.96 intergenic PSMB8-AS1 AU 0.177117 0.4871 0.081763 0.1315 0.5574 Uncertain 6_33142253_C->G 6 33142253 33142253 C G snp 3445.77 1/1 99 140 0 140 1.0 intergenic PSMB8-AS1 AU 0.869609 0.9623 0.770972 0.7822 0.9756 Uncertain 6_33143756_A->G 6 33143756 33143756 A G snp 3879.77 1/1 99 132 0 132 1.0 intergenic PSMB8-AS1 AU 0.401158 0.6677 0.279028 0.2871 0.6839 Uncertain 6_33143948_C->G 6 33143948 33143948 C G snp 2153.77 1/1 99 75 0 75 1.0 intergenic PSMB8-AS1 AU 0.547724 0.7192 Uncertain 6_33144243_T->A 6 33144243 33144243 T A snp 1882.77 1/1 99 58 0 58 1.0 intergenic PSMB8-AS1 AU 0.547125 0.7192 0.438374 0.4788 0.7360 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000039828.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 6_33144373_G->A 6 33144373 33144373 G A snp 1439.77 1/1 99 50 0 50 1.0 intergenic PSMB8-AS1 AU 0.869209 0.9623 Uncertain 6_33145710_A->G 6 33145710 33145710 A G snp 796.77 1/1 60 22 0 22 1.0 intergenic PSMB8-AS1 AU 0.876997 0.9752 Uncertain 6_33147589_T->G 6 33147589 33147589 T G snp 3820.77 1/1 99 143 0 143 1.0 intergenic PSMB8-AS1 AU 1 1 1 1 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000039825.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 6_33163451_G->A 6 33163451 33163451 G A snp 2154.77 1/1 99 75 0 75 1.0 exonic RXRB AU synonymous SNV NM_021976 exon7 c.C1152T p.F384F 0.858227 0.9544 0.757468 0.7727 0.9730 Uncertain 6_33166034_A->G 6 33166034 33166034 A G snp 2155.77 1/1 99 80 2 78 0.97 intronic RXRB AU NM_021976 exon8 c.3626-50A>G 0.376597 0.6042 0.276222 0.2771 0.6361 Uncertain 6_33172870_G->T 6 33172870 33172870 G T snp 2610.77 0/1 99 234 124 110 0.47 intergenic RXRB AU 0.06 T 1.000 N -0.298 T 0.196 T 0.448 T Uncertain 6_33172905_T->C 6 33172905 33172905 T C snp 7122.77 1/1 99 250 0 250 1.0 intergenic RXRB AU 0.878395 0.9772 0.777396 0.7866 0.9862 Uncertain 6_33172932_G->A 6 33172932 33172932 G A snp 7687.77 1/1 99 250 0 250 1.0 intergenic RXRB AU 0.852037 0.9137 0.776921 0.7764 0.9278 Uncertain 6_33173749_AGAG->- 6 33173749 33173752 AGAG - indel 2180.73 ./1 99 75 0 75 1.0 intergenic RXRB AU Uncertain 6_33173749_AG->- 6 33173749 33173750 AG - indel 2180.73 ./1 99 75 0 75 1.0 intergenic RXRB AU Uncertain 6_33173842_G->A 6 33173842 33173842 G A snp 2994.77 1/1 99 107 0 107 1.0 intergenic RXRB AU 0.372604 0.6042 Uncertain 6_33173998_G->A 6 33173998 33173998 G A snp 2070.77 1/1 99 66 0 66 1.0 intergenic RXRB AU 0.17512 0.4921 0.073959 0.1057 0.5309 Uncertain 6_33175575_C->T 6 33175575 33175575 C T snp 3939.77 1/1 99 153 0 153 1.0 intergenic RXRB AU 0.375998 0.6042 0.267759 0.3460 0.6565 Uncertain 6_33175824_A->G 6 33175824 33175824 A G snp 1366.77 1/1 99 42 0 42 1.0 intergenic RXRB AU 0.17492 0.4921 Uncertain 6_33176958_C->T 6 33176958 33176958 C T snp 6053.77 1/1 99 218 0 218 1.0 intergenic RXRB AU 0.40595 0.6171 0.4136 0.6746 Uncertain 6_33178010_G->T 6 33178010 33178010 G T snp 292.78 1/1 24 8 0 8 1.0 intergenic RXRB AU 0.377596 0.6052 Uncertain 6_33231191_C->G 6 33231191 33231191 C G snp 171.77 0/1 99 19 12 7 0.37 intronic rs531738 VPS52 AU NM_022553 exon4 c.12643-69C>G Uncertain 6_33232055_G->A 6 33232055 33232055 G A snp 288.78 1/1 24 8 0 8 1.0 intronic rs213202 VPS52 AU NM_022553 exon7 c.13533-95G>A 0.411741 0.5794 Uncertain 6_33232521_C->T 6 33232521 33232521 C T snp 1564.77 1/1 99 45 0 45 1.0 intronic rs213201 VPS52 AU NM_022553 exon8 c.13941-37C>T 0.38778 0.5794 0.321682 0.3715 0.6381 Uncertain 6_33235755_G->A 6 33235755 33235755 G A snp 3745.77 1/1 99 134 0 134 1.0 exonic rs213199 VPS52 AU synonymous SNV NM_001289176 exon9 c.C445T p.L149L 0.444688 0.5823 0.383768 0.3881 0.6372 Uncertain 6_33248174_G->A 6 33248174 33248174 G A snp 1339.77 1/1 96 54 0 54 1.0 intergenic rs213215 VPS52 AU 0.625998 0.7133 0.570886 0.6219 0.7582 Uncertain 6_33256471_T->C 6 33256471 33256471 T C snp 6276.77 1/1 99 220 0 220 1.0 intergenic rs3130257 VPS52 AU 0.965655 0.997 0.919806 0.9257 0.9978 1 T 0.000 P -0.929 T 0.0 T 0.0 T Uncertain 6_33333446_C->T 6 33333446 33333446 C T snp 4113.77 1/1 99 152 0 152 1.0 intergenic VPS52 AU 0.489617 0.6468 Uncertain 6_33333916_G->T 6 33333916 33333916 G T snp 3944.77 1/1 99 136 0 136 1.0 intergenic VPS52 AU 0.496406 0.6548 Uncertain 6_33359820_A->C 6 33359820 33359820 A C snp 5952.77 1/1 99 213 0 213 1.0 intergenic rs172435 VPS52 AU 0.919529 0.9931 0.875711 0.9143 0.9949 Uncertain 6_33365640_T->C 6 33365640 33365640 T C snp 96.28 1/1 9 3 0 3 1.0 intergenic rs211457 VPS52 AU 0.959465 0.994 Uncertain 6_33382288_G->A 6 33382288 33382288 G A snp 3525.77 1/1 99 127 0 127 1.0 exonic rs3116713 PHF1 AU nonsynonymous SNV NM_002636 exon10 c.G911A p.R304K 0.977636 0.999 0.935338 0.9515 0.9994 0.43 T 0.000 P -0.958 T 0.002 T 0.006 T Pathogenic 6_33382417_TG->- 6 33382417 33382418 TG - indel 6688.73 1/1 99 137 0 137 1.0 intronic rs10531042 PHF1 AU NM_024165 exon11 c.2461-84_2461-83delTG 0.504992 0.6409 Uncertain 6_33382943_G->T 6 33382943 33382943 G T snp 2209.77 1/1 99 85 0 85 1.0 intronic PHF1 AU NM_024165 exon12 c.2881+22G>T 0.977636 0.999 0.935338 0.9515 0.9994 Uncertain 6_33403422_C->T 6 33403422 33403422 C T snp 1472.77 1/1 99 49 0 49 1.0 intergenic PHF1 AU 0.440096 0.6409 0.359296 0.3955 0.6210 Uncertain 6_33408542_G->A 6 33408542 33408542 G A snp 2442.77 1/1 99 85 0 85 1.0 intergenic rs411136 MIR5004 AU 0.4377 0.6319 0.357846 0.4861 0.6658 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000118564.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 6_33414626_T->C 6 33414626 33414626 T C snp 176.9 1/1 15 7 0 7 1.0 intergenic MIR5004 AU 0.967652 0.994 Uncertain 6_33414637_G->T 6 33414637 33414637 G T snp 139.03 1/1 12 5 0 5 1.0 intergenic MIR5004 AU 0.967652 0.994 Uncertain 6_33422976_T->G 6 33422976 33422976 T G snp 6965.77 1/1 99 250 0 250 1.0 exonic ZBTB9 AU synonymous SNV NM_152735 exon2 c.T99G p.S33S 0.967652 0.994 0.941719 0.9420 0.9950 Uncertain 6_33541507_A->G 6 33541507 33541507 A G snp 600.77 1/1 48 16 0 16 1.0 UTR3 rs511515 BAK1 AU 0.785343 0.8264 Uncertain 6_33541719_A->G 6 33541719 33541719 A G snp 6108.77 1/1 99 225 0 225 1.0 intronic rs513349 BAK1 AU NM_001188 exon1 c.105+35A>G 0.653554 0.7629 0.482316 0.5188 0.7849 Uncertain 6_33542478_C->T 6 33542478 33542478 C T snp 1284.77 1/1 93 43 0 43 1.0 intronic rs210137 BAK1 AU NM_001188 exon2 c.412+487C>T 0.283946 0.4861 Uncertain 6_33542538_A->G 6 33542538 33542538 A G snp 256.8 1/1 21 7 0 7 1.0 intronic rs210138 BAK1 AU NM_001188 exon3 c.1495-536A>G 0.296126 0.4871 Uncertain 6_33553580_C->T 6 33553580 33553580 C T snp 592.77 1/1 45 16 0 16 1.0 ncRNA_intronic rs394199 GGNBP1 AU 0.444489 0.5635 Uncertain 6_33554257_A->G 6 33554257 33554257 A G snp 413.77 1/1 33 11 0 11 1.0 ncRNA_exonic rs407710 LINC00336 AU 0.33766 0.4802 Uncertain 6_33560896_A->G 6 33560896 33560896 A G snp 1835.77 1/1 99 65 0 65 1.0 ncRNA_exonic rs210162 LINC00336 AU 0.31849 0.5159 0.174033 0.3531 0.6038 Uncertain 6_33561164_C->T 6 33561164 33561164 C T snp 5356.77 1/1 99 194 0 194 1.0 upstream rs210163 LINC00336 AU 0.842652 0.9692 0.763866 0.7861 0.9764 Uncertain 6_33608379_T->C 6 33608379 33608379 T C snp 2548.77 1/1 99 93 0 93 1.0 intronic rs4713647 ITPR3 AR NM_002224 exon2 c.18952+48T>C 0.968051 0.995 0.964555 0.9837 0.9980 Uncertain 6_33625601_T->- 6 33625601 33625601 T - indel 2170.73 1/1 99 49 0 49 1.0 intronic rs3831079 ITPR3 AR NM_002224 exon4 c.36329-107delT 0.432708 0.4851 Uncertain 6_33626717_T->C 6 33626717 33626717 T C snp 2496.77 1/1 99 86 0 86 1.0 intronic rs2296343 ITPR3 AR NM_002224 exon6 c.37418-80T>C 0.270367 0.4296 Uncertain 6_33630846_A->G 6 33630846 33630846 A G snp 1989.77 1/1 99 71 0 71 1.0 intronic rs9366827 ITPR3 AR NM_002224 exon9 c.41404+63A>G 0.825679 0.8254 Uncertain 6_33631696_G->A 6 33631696 33631696 G A snp 1340.77 1/1 99 44 0 44 1.0 intronic rs2296337 ITPR3 AR NM_002224 exon11 c.42278+39G>A 0.276757 0.4157 0.230817 0.2858 0.4371 Uncertain 6_33633527_A->G 6 33633527 33633527 A G snp 1544.77 1/1 99 52 0 52 1.0 intronic rs6901411 ITPR3 AR NM_002224 exon14 c.44232-84A>G 0.280551 0.4196 Uncertain 6_33635407_T->A 6 33635407 33635407 T A snp 512.77 1/1 39 14 0 14 1.0 intronic rs12662536 ITPR3 AR NM_002224 exon16 c.46189-161T>A 0.263978 0.4177 Uncertain 6_33636232_T->C 6 33636232 33636232 T C snp 7468.77 1/1 99 248 0 248 1.0 intronic rs9380372 ITPR3 AR NM_002224 exon17 c.46912-59T>C 0.829473 0.8224 Uncertain 6_33636660_C->G 6 33636660 33636660 C G snp 2126.77 1/1 99 69 1 68 0.99 intronic rs2296336 ITPR3 AR NM_002224 exon18 c.47371-90C>G 0.336661 0.4792 Uncertain 6_33636907_C->T 6 33636907 33636907 C T snp 4894.77 1/1 99 169 1 168 0.99 exonic rs2077163 ITPR3 AR synonymous SNV NM_002224 exon18 c.C2163T p.H721H 0.490815 0.5238 0.479394 0.5173 0.5270 Uncertain 6_33638180_C->T 6 33638180 33638180 C T snp 6907.77 1/1 99 249 1 248 1.0 exonic rs2229634 ITPR3 AR synonymous SNV NM_002224 exon19 c.C2268T p.G756G 0.335463 0.4722 0.259649 0.3284 0.4750 Uncertain 6_33638657_G->A 6 33638657 33638657 G A snp 1800.77 1/1 99 54 0 54 1.0 intronic rs2274198 ITPR3 AR NM_002224 exon20 c.49213+65G>A 0.366813 0.4583 Uncertain 6_33639760_G->C 6 33639760 33639760 G C snp 214.84 1/1 18 6 0 6 1.0 intronic rs3736893 ITPR3 AR NM_002224 exon22 c.50426-45G>C 0.76278 0.8185 0.670229 0.7058 0.8396 Uncertain 6_33641379_T->C 6 33641379 33641379 T C snp 3837.77 1/1 99 141 0 141 1.0 exonic rs1803831 ITPR3 AR synonymous SNV NM_002224 exon23 c.T2940C p.N980N 0.47504 0.5268 0.458173 0.5105 0.5341 Uncertain 6_33641956_T->C 6 33641956 33641956 T C snp 3689.77 1/1 99 144 0 144 1.0 intronic rs7769838 ITPR3 AR NM_002224 exon24 c.52605-28T>C 0.830072 0.9772 0.721667 0.7728 0.9801 Uncertain 6_33644768_T->C 6 33644768 33644768 T C snp 2246.77 1/1 99 81 0 81 1.0 intronic rs2068236 ITPR3 AR NM_002224 exon27 c.55412-23T>C 0.93111 0.996 0.928571 0.9722 0.9977 Uncertain 6_33644773_T->A 6 33644773 33644773 T A snp 2264.77 1/1 99 83 0 83 1.0 intronic rs4713652 ITPR3 AR NM_002224 exon27 c.55412-18T>A 0.923922 0.996 0.923189 0.9706 0.9977 Uncertain 6_33646328_T->C 6 33646328 33646328 T C snp 1883.77 1/1 99 49 0 49 1.0 intronic rs2274195 ITPR3 AR NM_002224 exon29 c.56941+8T>C 0.769169 0.9464 0.706634 0.7918 0.9462 Uncertain 6_33647594_C->A 6 33647594 33647594 C A snp 1881.77 1/1 99 60 0 60 1.0 intronic rs4713653 ITPR3 AR NM_002224 exon31 c.58279-64C>A 0.688898 0.877 Uncertain 6_33647651_A->G 6 33647651 33647651 A G snp 3201.82 1/1 99 112 0 112 1.0 intronic rs4713654 ITPR3 AR NM_002224 exon31 c.58279-7A>G 0.629017 0.7113 0.8922 Uncertain 6_33648228_C->T 6 33648228 33648228 C T snp 7143.77 1/1 99 248 0 248 1.0 splicing rs2229638 ITPR3 AR NM_002224 exon32 c.58847+2C>T 0.913738 0.9881 0.882131 0.9159 0.9923 Pathogenic 6_33650621_G->A 6 33650621 33650621 G A snp 590.77 1/1 45 15 0 15 1.0 intronic rs2296330 ITPR3 AR NM_002224 exon34 c.61042+200G>A 0.304712 0.6746 Uncertain 6_33653111_T->C 6 33653111 33653111 T C snp 1791.77 1/1 99 54 0 54 1.0 intronic rs942637 ITPR3 AR NM_002224 exon40 c.63756-24T>C 0.913538 0.9881 0.882593 0.9170 0.9924 Uncertain 6_33653448_C->T 6 33653448 33653448 C T snp 4588.77 1/1 99 158 1 157 0.99 exonic rs749338 ITPR3 AR synonymous SNV NM_002224 exon41 c.C5511T p.G1837G 0.510383 0.8621 0.350300 0.5244 0.8956 Uncertain 6_33654378_A->G 6 33654378 33654378 A G snp 1425.77 1/1 99 48 0 48 1.0 intronic rs4640882 ITPR3 AR NM_002224 exon43 c.64917+82A>G 0.973243 0.998 Uncertain 6_33654588_C->T 6 33654588 33654588 C T snp 96.28 1/1 9 4 0 4 1.0 intronic rs2395450 ITPR3 AR NM_002224 exon44 c.65406-197C>T 0.524561 0.8819 Uncertain 6_33654591_G->C 6 33654591 33654591 G C snp 176.9 1/1 15 5 0 5 1.0 intronic rs943470 ITPR3 AR NM_002224 exon44 c.65406-194G>C 0.510184 0.877 Uncertain 6_33654897_T->C 6 33654897 33654897 T C snp 4351.77 1/1 99 156 0 156 1.0 intronic rs942642 ITPR3 AR NM_002224 exon44 c.65502+16T>C 0.739217 0.9534 0.622592 0.7402 0.9579 Uncertain 6_33656250_T->C 6 33656250 33656250 T C snp 139.03 1/1 12 5 0 5 1.0 intronic rs2296736 ITPR3 AR NM_002224 exon48 c.66829+42T>C 0.555911 0.8998 0.352030 0.5547 0.9036 Uncertain 6_33656654_C->G 6 33656654 33656654 C G snp 2250.77 1/1 99 67 0 67 1.0 intronic rs11759396 ITPR3 AR NM_002224 exon49 c.67179+96C>G 0.555511 0.8998 Uncertain 6_33656969_G->A 6 33656969 33656969 G A snp 2256.77 1/1 99 69 0 69 1.0 intronic rs2296739 ITPR3 AR NM_002224 exon50 c.67635-45G>A 0.510583 0.8462 0.351376 0.5264 0.8643 Uncertain 6_33657246_C->T 6 33657246 33657246 C T snp 4010.77 1/1 99 142 1 141 0.99 intronic rs3818521 ITPR3 AR NM_002224 exon50 c.67808+59C>T 0.510583 0.8462 Uncertain 6_33658066_G->C 6 33658066 33658066 G C snp 506.77 1/1 39 14 0 14 1.0 intronic rs764752 ITPR3 AR NM_002224 exon51 c.68596+91G>C 0.557708 0.8998 Uncertain 6_33659046_G->A 6 33659046 33659046 G A snp 139.03 1/1 12 4 0 4 1.0 intronic rs4711336 ITPR3 AR NM_002224 exon52 c.69507+160G>A 0.550719 0.8978 Uncertain 6_33659472_C->G 6 33659472 33659472 C G snp 3331.77 1/1 99 110 0 110 1.0 exonic rs2229642 ITPR3 AR nonsynonymous SNV NM_002224 exon53 c.C7306G p.L2436V 0.579673 0.8998 0.408427 0.5678 0.9131 0.35 T 0.0 P -0.954 T 0.0 T 0.002 T Pathogenic 6_33659536_A->G 6 33659536 33659536 A G snp 4805.77 1/1 99 174 0 174 1.0 intronic rs2296740 ITPR3 AR NM_002224 exon53 c.70117+40A>G 0.583067 0.8998 0.418345 0.5755 0.9131 Uncertain 6_33659557_C->T 6 33659557 33659557 C T snp 5365.77 1/1 99 192 0 192 1.0 intronic rs2296741 ITPR3 AR NM_002224 exon54 c.70198-20C>T 0.550319 0.8978 0.370675 0.5566 0.9123 Uncertain 6_33659793_G->A 6 33659793 33659793 G A snp 1534.77 1/1 99 46 0 46 1.0 intronic rs2296742 ITPR3 AR NM_002224 exon54 c.70326+88G>A 0.579673 0.8998 Uncertain 6_33660371_G->A 6 33660371 33660371 G A snp 56.74 1/1 6 2 0 2 1.0 intronic rs3818523 ITPR3 AR NM_002224 exon55 c.71125-133G>A 0.579872 0.8998 Uncertain 6_33660411_T->C 6 33660411 33660411 T C snp 634.77 1/1 48 18 0 18 1.0 intronic rs653536 ITPR3 AR NM_002224 exon55 c.71125-93T>C 0.922923 0.9921 Uncertain 6_33660695_G->C 6 33660695 33660695 G C snp 2468.77 1/1 99 78 0 78 1.0 intronic rs3818524 ITPR3 AR NM_002224 exon55 c.71291+25G>C 0.511182 0.8452 0.351684 0.5293 0.8643 Uncertain 6_33660779_A->G 6 33660779 33660779 A G snp 297.78 1/1 24 8 0 8 1.0 intronic rs3818525 ITPR3 AR NM_002224 exon55 c.71291+109A>G 0.584864 0.9008 Uncertain 6_33661222_C->G 6 33661222 33661222 C G snp 750.77 1/1 57 23 0 23 1.0 intronic rs3818530 ITPR3 AR NM_002224 exon56 c.71942-99C>G 0.512979 0.8452 Uncertain 6_33668370_A->G 6 33668370 33668370 A G snp 773.77 1/1 57 23 0 23 1.0 intronic rs942643 UQCC2 AR NM_032340 exon2 c.2861+80A>G 0.533546 0.8591 Uncertain 6_33679596_A->C 6 33679596 33679596 A C snp 984.77 1/1 75 31 0 31 1.0 upstream rs2274458 UQCC2 AR 0.53135 0.8591 Uncertain 6_33690796_C->T 6 33690796 33690796 C T snp 3308.77 1/1 99 115 0 115 1.0 exonic rs4713668 IP6K3 AU nonsynonymous SNV NM_054111 exon6 c.G934A p.V312I 0.51258 0.8442 0.347609 0.5258 0.8642 0.39 T 0.873 P -1.015 T 0.362 T 0.166 T Pathogenic 6_33690797_A->G 6 33690797 33690797 A G snp 3283.77 1/1 99 115 0 115 1.0 exonic rs4711341 IP6K3 AU synonymous SNV NM_054111 exon6 c.T933C p.S311S 0.531949 0.8591 0.357374 0.5351 0.8719 Uncertain 6_33694469_C->T 6 33694469 33694469 C T snp 158.77 0/1 99 10 5 5 0.5 intronic rs145911935 IP6K3 AU NM_001142883 exon3 c.4011-38C>T 0.00159744 0.0069 0.000077 0.0012 0.0148 Uncertain 6_33740375_G->A 6 33740375 33740375 G A snp 1489.77 0/1 99 143 82 61 0.43 UTR3 LEMD2 AR Uncertain 6_33740382_G->A 6 33740382 33740382 G A snp 4414.77 1/1 99 162 0 162 1.0 UTR3 rs2296744 LEMD2 AR 0.485423 0.7847 0.433713 0.5356 0.7819 Uncertain 6_33740592_C->T 6 33740592 33740592 C T snp 1496.77 1/1 99 43 0 43 1.0 intronic rs4711349 LEMD2 AR NM_001143944 exon1 c.151+37C>T 0.534944 0.8313 0.460243 0.5605 0.8181 Uncertain 6_33744711_C->T 6 33744711 33744711 C T snp 523.77 1/1 39 16 0 16 1.0 intronic rs2296746 LEMD2 AR NM_001143944 exon2 c.4326-19C>T 0.457867 0.7798 0.335153 0.4319 0.7812 Uncertain 6_33744882_C->G 6 33744882 33744882 C G snp 3792.77 1/1 99 140 0 140 1.0 intronic rs2296747 LEMD2 AR NM_001143944 exon3 c.4510-32C>G 0.475839 0.7798 0.350992 0.4265 0.7789 Uncertain 6_33745071_C->T 6 33745071 33745071 C T snp 1829.77 1/1 99 62 0 62 1.0 intronic rs2296748 LEMD2 AR NM_001143944 exon3 c.4612+55C>T 0.457867 0.7798 Uncertain 6_33748831_T->G 6 33748831 33748831 T G snp 2441.77 1/1 99 91 0 91 1.0 intronic rs2182658 LEMD2 AR NM_001143944 exon6 c.8449-22T>G 0.823482 0.9544 0.750961 0.8191 0.9528 Uncertain 6_33749151_A->G 6 33749151 33749151 A G snp 385.22 0/1 4 12 1 11 0.92 intronic rs12196293 LEMD2 AR NM_001143944 exon6 c.8526+221A>G 0.531749 0.8304 Uncertain 6_33749152_T->A 6 33749152 33749152 T A snp 313.74 0/1 6 10 1 9 0.9 intronic rs12190029 LEMD2 AR NM_001143944 exon6 c.8526+222T>A 0.532149 0.8304 Uncertain 6_33752013_A->G 6 33752013 33752013 A G snp 660.77 1/1 51 20 0 20 1.0 intronic rs943479 LEMD2 AR NM_001143944 exon7 c.11724-115A>G 0.55012 0.8304 Uncertain 6_33754396_A->G 6 33754396 33754396 A G snp 263.8 1/1 21 8 0 8 1.0 intronic rs9394167 LEMD2 AR NM_001143944 exon8 c.14106-114A>G 0.55012 0.8304 Uncertain 6_33754592_G->A 6 33754592 33754592 G A snp 4645.77 1/1 99 177 0 177 1.0 UTR5 rs4711351 LEMD2 AR 0.412141 0.756 0.309703 0.4044 0.7587 Uncertain 6_33756026_C->T 6 33756026 33756026 C T snp 312.78 1/1 27 10 0 10 1.0 intronic rs6457741 LEMD2 AR NM_181336 exon9 c.15753-131C>T 0.55012 0.8304 Uncertain 6_33768897_A->G 6 33768897 33768897 A G snp 7171.77 1/1 99 250 0 250 1.0 exonic rs2281820 MLN AU nonsynonymous SNV NM_001040109 exon2 c.T44C p.V15A 0.631589 0.8562 0.555359 0.6096 0.8490 0.68 T 0.0 P -1.054 T 0.0 T 0.0 T Pathogenic 6_33967787_A->T 6 33967787 33967787 A T snp 1781.77 0/1 99 143 66 77 0.54 ncRNA_exonic rs76156362 MIR1275 AU 0.00439297 0.0208 0.000097 0.0014 0.0165 Uncertain 6_33967930_G->A 6 33967930 33967930 G A snp 1169.77 0/1 99 75 31 44 0.59 upstream rs76873177 MIR1275 AU 0.0511182 0.0258 Uncertain 6_33990447_T->C 6 33990447 33990447 T C snp 46.77 0/1 33 3 1 2 0.67 UTR3 rs2229901 GRM4 AU 0.40635 0.4097 Uncertain 6_33995828_C->T 6 33995828 33995828 C T snp 466.77 0/1 99 43 24 19 0.44 intronic rs2306926 GRM4 AU NM_001282847 exon2 c.5299-68C>T 0.0125799 0.0288 Uncertain 6_33995871_A->G 6 33995871 33995871 A G snp 1667.77 0/1 99 115 55 60 0.52 intronic rs7745888 GRM4 AU NM_001282847 exon2 c.5299-25A>G 0.136781 0.0367 0.145442 0.0939 0.0409 Uncertain 6_34003336_-->GAAAGAAGGCAGAATGAGGCAA 6 34003336 34003336 - GAAAGAAGGCAGAATGAGGCAA indel 698.73 0/1 99 30 22 8 0.27 intronic GRM4 AU NM_001282847 exon3 c.12847-108insGAAAGAAGGCAGAATGAGGCAA Uncertain 6_34008006_A->G 6 34008006 34008006 A G snp 3597.77 1/1 99 132 0 132 1.0 exonic rs2229900 GRM4 AU synonymous SNV NM_001256809 exon6 c.T1107C p.D369D 0.482628 0.5139 0.386129 0.3211 0.4769 Uncertain 6_34024211_A->G 6 34024211 34024211 A G snp 201.8 0/1 21 7 1 6 0.86 intronic rs188396675 GRM4 AU NM_001282847 exon6 c.33723-109A>G 0.00519169 0.0248 Uncertain 6_34024291_-->GCCCG 6 34024291 34024291 - GCCCG indel 1921.73 0/1 99 49 20 29 0.59 intronic rs3832403 GRM4 AU NM_001282847 exon6 c.33723-29insGCCCG 0.00559105 0.0228 0.002330 0.0019 0.0167 Uncertain 6_34026938_C->T 6 34026938 34026938 C T snp 3221.92 1/1 99 112 0 112 1.0 intronic rs2451359 GRM4 AU NM_001282847 exon7 c.36308+33C>T 0.967252 0.994 0.946769 0.9386 0.9960 Uncertain 6_34059561_G->A 6 34059561 34059561 G A snp 177.77 0/1 99 18 11 7 0.39 intronic rs78033403 GRM4 AU NM_001256811 exon8 c.69062-98G>A 0.0307508 0.0357 0.0423 0.0730 Uncertain 6_34069967_A->G 6 34069967 34069967 A G snp 1512.77 1/1 99 51 0 51 1.0 intronic rs58479795 GRM4 AU NM_001256813 exon10 c.80760-1390A>G 0.029353 0.0347 Uncertain 6_34071249_C->T 6 34071249 34071249 C T snp 354.77 0/1 99 43 29 14 0.33 intronic rs112661215 GRM4 AU NM_001256813 exon10 c.80760-108C>T 0.0235623 0.0238 Uncertain 6_34078463_G->A 6 34078463 34078463 G A snp 6780.77 1/1 99 242 0 242 1.0 UTR5 rs744102 GRM4 AU 0.596845 0.5218 0.5516 0.5 Uncertain 6_34211342_T->- 6 34211342 34211342 T - indel 2757.73 1/1 99 66 0 66 1.0 intronic rs35381162 HMGA1 AD NM_002131 exon5 c.2738+47delT 0.833067 0.8899 0.871725 0.9079 0.8904 Uncertain 6_34212743_A->G 6 34212743 34212743 A G snp 386.77 1/1 30 15 0 15 1.0 UTR3 rs2780219 HMGA1 AD 0.976238 0.998 0.9875 1 1 T 0.085 P -0.947 T Uncertain 6_34212772_G->C 6 34212772 34212772 G C snp 193.77 0/1 99 10 3 7 0.7 UTR3 HMGA1 AD 0 D 1.000 N -0.964 T 0.0 T 0.001 T Uncertain 6_34213296_T->C 6 34213296 34213296 T C snp 2658.77 1/1 99 94 0 94 1.0 UTR3 rs1150783 HMGA1 AD 0.978435 1 0.9902 1 Uncertain 6_34214322_C->G 6 34214322 34214322 C G snp 4352.77 1/1 99 169 0 169 1.0 exonic rs1150781 C6orf1 AU nonsynonymous SNV NM_001287397 exon4 c.G389C p.G130A 0.765176 0.8611 0.791096 0.8538 0.8754 1 T 0.0 P -0.979 T 0.123 T 0.015 T Pathogenic 6_34214994_-->TC 6 34214994 34214994 - TC indel 1336.73 1/1 87 35 0 35 1.0 intronic rs397717978 C6orf1 AU NM_178508 exon2 c.636+68insTC 0.982827 1 Uncertain 6_34263465_A->G 6 34263465 34263465 A G snp 613.77 0/1 99 59 28 31 0.53 splicing rs568570475 NUDT3 AU NM_006703 exon3 c.6933+3A>G 0.000199681 0.001 1.65e-05 0.0002 Pathogenic 6_34385517_A->T 6 34385517 34385517 A T snp 2145.77 1/1 99 68 0 68 1.0 intronic rs16889714 RPS10 AU NM_001014 exon1 c.42+193A>T 0.192692 0.4226 Uncertain 6_34494990_G->C 6 34494990 34494990 G C snp 129.77 0/1 99 13 8 5 0.38 intronic PACSIN1 AU NM_001199583 exon3 c.1026-118G>C Uncertain 6_34495050_C->T 6 34495050 34495050 C T snp 1289.77 0/1 99 97 49 48 0.49 intronic rs2282251 PACSIN1 AU NM_001199583 exon3 c.1026-58C>T 0.0678914 0.0764 Uncertain 6_34495078_G->A 6 34495078 34495078 G A snp 2067.77 0/1 99 167 84 83 0.5 intronic rs2282252 PACSIN1 AU NM_001199583 exon3 c.1026-30G>A 0.0678914 0.0764 0.041435 0.0900 0.1845 Uncertain 6_34495318_A->C 6 34495318 34495318 A C snp 813.77 0/1 99 69 39 30 0.43 intronic rs74444494 PACSIN1 AU NM_001199583 exon3 c.1183+53A>C 0.0684904 0.0784 Uncertain 6_34497022_G->A 6 34497022 34497022 G A snp 35.77 0/1 64 4 2 2 0.5 intronic rs79659264 PACSIN1 AU NM_001199583 exon5 c.3091-151G>A 0.0261581 0.0764 Uncertain 6_34497079_G->C 6 34497079 34497079 G C snp 183.77 0/1 99 17 10 7 0.41 intronic rs75017364 PACSIN1 AU NM_001199583 exon5 c.3091-94G>C 0.0670927 0.0784 Uncertain 6_34497967_G->A 6 34497967 34497967 G A snp 608.77 0/1 99 69 40 29 0.42 intronic rs2296575 PACSIN1 AU NM_001199583 exon7 c.3937-52G>A 0.0684904 0.0784 Uncertain 6_34507004_C->T 6 34507004 34507004 C T snp 1971.77 0/1 99 151 68 83 0.55 intronic rs2233647 SPDEF AU NM_001252294 exon2 c.976-22C>T 0.0778754 0.0694 0.057358 0.0410 0.0884 Uncertain 6_34512064_C->T 6 34512064 34512064 C T snp 2082.77 0/1 99 150 64 86 0.57 exonic rs2233639 SPDEF AU nonsynonymous SNV NM_001252294 exon2 c.G169A p.A57T 0.0826677 0.0794 0.060126 0.0427 0.1011 0.09 T 0.000 P -0.954 T 0.08 T 0.008 T Pathogenic 6_34512195_G->C 6 34512195 34512195 G C snp 685.77 0/1 99 60 28 32 0.53 exonic rs2233637 SPDEF AU nonsynonymous SNV NM_001252294 exon2 c.C38G p.P13R 0.0814696 0.0774 0.054743 0.0454 0.1011 0.07 T 0.0 P -1.050 T 0.003 T 0.005 T Pathogenic 6_34622676_A->G 6 34622676 34622676 A G snp 523.77 0/1 99 32 13 19 0.59 intronic rs2252551 C6orf106 AU NM_024294 exon4 c.64215+120A>G 0.233027 0.3075 Uncertain 6_34664207_T->G 6 34664207 34664207 T G snp 795.77 0/1 99 51 21 30 0.59 intronic rs3800456 C6orf106 AU NM_024294 exon5 c.105881-15T>G 0.766773 0.6925 0.738757 0.7881 0.6977 Uncertain 6_34725148_A->G 6 34725148 34725148 A G snp 120.77 0/1 66 6 2 4 0.67 UTR5 rs60410089 SNRPC AU 0.110224 0.3006 Uncertain 6_34725655_-->TCA 6 34725655 34725655 - TCA indel 3660.73 0/1 99 137 60 77 0.56 intronic rs201765428 SNRPC AU NM_003093 exon2 c.368-33insTCA 0.221845 0.1597 0.3596 0.4433 Uncertain 6_34725658_G->T 6 34725658 34725658 G T snp 1662.77 0/1 99 139 62 77 0.55 intronic rs28398813 SNRPC AU NM_003093 exon2 c.368-30G>T 0.3596 0.4434 0.06 T 1 N -0.988 T Uncertain 6_34735653_T->- 6 34735653 34735653 T - indel 54.73 0/1 92 28 14 14 0.5 intronic rs371572218 SNRPC AU NM_003093 exon4 c.10364-31delT 0.339856 0.372 0.3350 0.3341 Uncertain 6_34735676_-->CTCAT 6 34735676 34735676 - CTCAT indel 646.73 0/1 99 24 13 11 0.46 intronic rs3831083 SNRPC AU NM_003093 exon4 c.10364-8insCTCAT 0.447125 0.3518 0.4373 Uncertain 6_34735883_T->C 6 34735883 34735883 T C snp 83.77 0/1 67 6 2 4 0.67 intronic rs3736896 SNRPC AU NM_003093 exon4 c.10454+109T>C 0.259784 0.3125 Uncertain 6_34738203_T->C 6 34738203 34738203 T C snp 1527.77 0/1 99 114 46 68 0.6 intronic rs2038841 SNRPC AU NM_003093 exon5 c.12852+31T>C 0.452476 0.4464 0.450331 0.3629 0.4521 Uncertain 6_34741175_G->A 6 34741175 34741175 G A snp 1065.77 0/1 99 72 29 43 0.6 intronic rs2236392 SNRPC AU NM_003093 exon6 c.15902-47G>A 0.111022 0.3016 0.050608 0.0823 0.3214 Uncertain 6_34759881_A->G 6 34759881 34759881 A G snp 77.77 0/1 99 8 5 3 0.38 UTR5 rs13215181 UHRF1BP1 AU 0.454073 0.4573 Uncertain 6_34759884_G->C 6 34759884 34759884 G C snp 107.77 0/1 99 10 6 4 0.4 UTR5 rs6934662 UHRF1BP1 AU 0.463858 0.4573 Uncertain 6_34759903_-->GGCGGCGGC 6 34759903 34759903 - GGCGGCGGC indel 587.73 0/1 99 14 8 6 0.43 UTR5 rs10525938 UHRF1BP1 AU 0.0716853 0.1667 Uncertain 6_34759954_A->G 6 34759954 34759954 A G snp 582.77 0/1 99 57 32 25 0.44 UTR5 rs6457791 UHRF1BP1 AU 0.464657 0.4573 Uncertain 6_34760162_G->C 6 34760162 34760162 G C snp 927.77 0/1 99 74 37 37 0.5 intronic rs7769961 UHRF1BP1 AU NM_017754 exon1 c.44+91G>C 0.454673 0.4573 Uncertain 6_34760228_C->T 6 34760228 34760228 C T snp 235.77 0/1 99 18 10 8 0.44 intronic rs7769820 UHRF1BP1 AU NM_017754 exon1 c.44+157C>T 0.454473 0.4563 Uncertain 6_34791027_A->G 6 34791027 34791027 A G snp 1441.77 0/1 99 153 87 66 0.43 intronic rs7774697 UHRF1BP1 AU NM_017754 exon4 c.31006-6A>G 0.454273 0.4573 0.438001 0.3594 0.4537 Uncertain 6_34802015_G->A 6 34802015 34802015 G A snp 646.77 0/1 99 56 28 28 0.5 exonic rs138987130 UHRF1BP1 AU synonymous SNV NM_017754 exon5 c.G360A p.K120K 0.00479233 0.0238 0.0022 0.0284 Uncertain 6_34803947_C->T 6 34803947 34803947 C T snp 1259.77 0/1 99 90 36 54 0.6 exonic rs4259246 UHRF1BP1 AU synonymous SNV NM_017754 exon8 c.C855T p.A285A 0.461462 0.4633 0.443545 0.3570 0.4582 Uncertain 6_34824107_A->C 6 34824107 34824107 A C snp 1513.77 0/1 99 126 64 62 0.49 exonic rs16894945 UHRF1BP1 AU nonsynonymous SNV NM_017754 exon10 c.A1212C p.K404N 0.110823 0.3016 0.051205 0.0823 0.3191 1 T 0.677 P -0.910 T 0.061 T 0.02 T Pathogenic 6_34824636_A->G 6 34824636 34824636 A G snp 903.77 0/1 99 89 47 42 0.47 exonic rs11755393 UHRF1BP1 AU nonsynonymous SNV NM_017754 exon11 c.A1361G p.Q454R 0.467652 0.4583 0.449001 0.3681 0.4523 0.62 T 0.0 P -0.902 T 0.0 T 0.0 T ID=CM112666;DIS=Systemic lupus erythematosus, association with;TAG=DP;PUB=21326321 DP Pathogenic 6_34831866_G->A 6 34831866 34831866 G A snp 834.77 0/1 99 80 41 39 0.49 exonic rs3734264 UHRF1BP1 AU synonymous SNV NM_017754 exon15 c.G3303A p.T1101T 0.463458 0.4573 0.443889 0.3614 0.4532 Uncertain 6_34832074_G->A 6 34832074 34832074 G A snp 40.77 0/1 69 5 3 2 0.4 intronic rs73419689 UHRF1BP1 AU NM_017754 exon15 c.71948+99G>A 0.107029 0.3006 Uncertain 6_34838577_C->T 6 34838577 34838577 C T snp 2105.77 0/1 99 156 73 83 0.53 intronic rs3734262 UHRF1BP1 AU NM_017754 exon18 c.78603-53C>T 0.267372 0.5734 Uncertain 6_34949451_C->T 6 34949451 34949451 C T snp 1390.77 0/1 99 111 55 56 0.5 intronic rs3817473 ANKS1A AU NM_015245 exon4 c.92287-15C>T 0.41234 0.2728 0.530832 0.6288 0.3158 Uncertain 6_34949607_C->T 6 34949607 34949607 C T snp 2922.77 0/1 99 250 136 114 0.46 exonic rs2293242 ANKS1A AU synonymous SNV NM_015245 exon4 c.C576T p.Y192Y 0.550519 0.4058 0.671229 0.7121 0.4280 Uncertain 6_34962019_G->C 6 34962019 34962019 G C snp 1063.77 1/1 78 31 0 31 1.0 intronic rs11755713 ANKS1A AU NM_015245 exon10 c.104899-59G>C 0.760184 0.7282 Uncertain 6_34962060_G->A 6 34962060 34962060 G A snp 934.77 0/1 99 72 35 37 0.51 intronic rs3823438 ANKS1A AU NM_015245 exon10 c.104899-18G>A 0.326478 0.2421 0.414732 0.4916 0.2910 Uncertain 6_34977663_C->A 6 34977663 34977663 C A snp 56.74 1/1 6 2 0 2 1.0 intronic rs9380481 ANKS1A AU NM_015245 exon11 c.128070-7586C>A 0.733427 0.7262 0.7766 0.7976 Uncertain 6_34977813_A->G 6 34977813 34977813 A G snp 419.77 0/1 99 35 16 19 0.54 intronic rs12661991 ANKS1A AU NM_015245 exon11 c.128070-7436A>G 0.551518 0.4058 Uncertain 6_35027814_G->C 6 35027814 35027814 G C snp 154.77 0/1 99 13 6 7 0.54 intronic rs820086 ANKS1A AU NM_015245 exon13 c.170744-109G>C 0.47484 0.6032 Uncertain 6_35027927_T->C 6 35027927 35027927 T C snp 1162.77 1/1 84 45 0 45 1.0 exonic rs820085 ANKS1A AU nonsynonymous SNV NM_015245 exon13 c.T2081C p.L694S 0.990415 1 0.987006 0.9964 1 0.94 T 1.0 P -1.012 T 0.0 T 0.0 T Pathogenic 6_35046154_T->C 6 35046154 35046154 T C snp 378.77 1/1 30 12 0 12 1.0 intronic rs820100 ANKS1A AU NM_015245 exon14 c.189155-180T>C 0.828275 0.88 Uncertain 6_35046548_A->G 6 35046548 35046548 A G snp 179.9 1/1 15 6 0 6 1.0 intronic rs820101 ANKS1A AU NM_015245 exon14 c.189254+115A>G 0.864617 0.879 Uncertain 6_35047579_G->C 6 35047579 35047579 G C snp 704.77 0/1 99 38 16 22 0.58 intronic rs2762338 ANKS1A AU NM_015245 exon16 c.190418-18G>C 0.364617 0.2778 0.405957 0.5328 0.3959 Uncertain 6_35047732_T->C 6 35047732 35047732 T C snp 222.77 0/1 99 34 21 13 0.38 intronic rs2689094 ANKS1A AU NM_015245 exon16 c.190526+27T>C 0.313698 0.2619 0.332853 0.4258 0.3052 Uncertain 6_35048637_G->T 6 35048637 35048637 G T snp 370.77 0/1 99 31 16 15 0.48 intronic ANKS1A AU NM_015245 exon17 c.191591-133G>T Uncertain 6_35050506_G->A 6 35050506 35050506 G A snp 4202.77 1/1 99 157 0 157 1.0 exonic rs2177382 ANKS1A AU synonymous SNV NM_015245 exon18 c.G2748A p.P916P 0.844249 0.877 0.815700 0.8571 0.8978 Uncertain 6_35053384_TAGGAAGAG->- 6 35053384 35053392 TAGGAAGAG - indel 1475.73 0/1 99 18 5 13 0.72 intronic rs56055413 ANKS1A AU NM_015245 exon22 c.196363-158_196363-150delTAGGAAGAG 0.310903 0.2579 Uncertain 6_35054984_GCAGCGTAGACGCT->- 6 35054984 35054997 GCAGCGTAGACGCT - indel 4819.73 0/1 99 76 30 46 0.61 intronic rs11272213 ANKS1A AU NM_015245 exon23 c.197647+158_197647+171delGCAGCGTAGACGCT 0.355232 0.2609 Uncertain 6_35056443_A->G 6 35056443 35056443 A G snp 2713.77 0/1 99 231 110 121 0.52 UTR3 rs2005 ANKS1A AU 0.844449 0.6835 0.904731 Uncertain 6_35058117_A->G 6 35058117 35058117 A G snp 330.77 0/1 99 23 11 12 0.52 UTR3 rs707968 ANKS1A AU 0.666733 0.6518 Uncertain 6_35088956_A->G 6 35088956 35088956 A G snp 359.77 0/1 99 31 18 13 0.42 intronic rs2494096 TCP11 AU NM_001261821 exon5 c.2777+134A>G 0.65635 0.6488 Uncertain 6_35104018_C->A 6 35104018 35104018 C A snp 1331.77 0/1 99 129 68 61 0.47 intronic rs12661389 TCP11 AU NM_001261818 exon8 c.17950+23C>A 0.310903 0.2599 0.350823 0.4605 0.3176 Uncertain 6_35107682_T->A 6 35107682 35107682 T A snp 347.77 0/1 99 25 10 15 0.6 intronic rs3777748 TCP11 AU NM_001261821 exon9 c.21751-114T>A 0.578275 0.5645 Uncertain 6_35108990_C->- 6 35108990 35108990 C - indel 354.73 0/1 99 23 11 12 0.52 exonic rs142993601 TCP11 AU frameshift deletion NM_001093728 exon1 c.17delG p.G6fs 0.072233 0.3310 0.4412 ID=COSM247769;OCCURENCE=1(prostate) Pathogenic 6_35109033_GCGGCCTG->- 6 35109033 35109040 GCGGCCTG - indel 761.73 0/1 99 31 18 13 0.42 UTR5 rs142118879 TCP11 AU 0.437899 0.3085 0.4643 0.4643 Uncertain 6_35205881_G->A 6 35205881 35205881 G A snp 3213.77 1/1 99 100 0 100 1.0 intronic rs734538 SCUBE3 AU NM_001303136 exon7 c.23600+86G>A 0.922125 0.9891 Uncertain 6_35208862_C->G 6 35208862 35208862 C G snp 2117.77 0/1 99 203 105 98 0.48 intronic SCUBE3 AU NM_001303136 exon10 c.26722-55C>G Uncertain 6_35209225_T->A 6 35209225 35209225 T A snp 2700.77 1/1 99 97 0 97 1.0 intronic rs3800382 SCUBE3 AU NM_001303136 exon11 c.27124-94T>A 0.113618 0.3274 Uncertain 6_35211990_T->G 6 35211990 35211990 T G snp 1652.77 1/1 99 68 0 68 1.0 intronic rs58925593 SCUBE3 AU NM_001303136 exon17 c.29712+83T>G 0.113419 0.3274 Uncertain 6_35214171_G->C 6 35214171 35214171 G C snp 306.77 0/1 99 16 6 10 0.63 intronic rs4711410 SCUBE3 AU NM_001303136 exon21 c.31867+109G>C 0.0167732 0.0357 Uncertain 6_35258539_C->A 6 35258539 35258539 C A snp 1459.77 1/1 99 49 0 49 1.0 intronic rs763157 ZNF76 AU NM_001292032 exon7 c.9565+46C>A 0.921126 0.9891 0.878671 0.9039 0.9947 Uncertain 6_35260615_T->C 6 35260615 35260615 T C snp 6937.77 1/1 99 250 0 250 1.0 intronic rs4713848 ZNF76 AU NM_001292032 exon11 c.11729-42T>C 0.113419 0.3284 0.024758 0.0589 0.3100 Uncertain 6_35260858_G->A 6 35260858 35260858 G A snp 1140.77 1/1 84 35 0 35 1.0 intronic rs4711413 ZNF76 AU NM_001292032 exon11 c.11893+37G>A 0.113419 0.3284 0.024653 0.0592 0.3092 Uncertain 6_35285543_G->C 6 35285543 35285543 G C snp 614.77 1/1 48 16 0 16 1.0 intronic rs6937088 DEF6 AU NM_022047 exon6 c.20034-124G>C 0.79992 0.9623 Uncertain 6_35285720_A->C 6 35285720 35285720 A C snp 6693.77 1/1 99 245 0 245 1.0 exonic rs2395617 DEF6 AU nonsynonymous SNV NM_022047 exon6 c.A860C p.N287T 0.907748 0.9891 0.866831 0.9032 0.9949 0.42 T 0.0 P -0.983 T 0.017 T 0.008 T Pathogenic 6_35378778_C->T 6 35378778 35378778 C T snp 2030.77 1/1 99 80 0 80 1.0 UTR5 rs2016520 PPARD AU 0.770966 0.7381 ID=CR035869;DIS=Increased LDL cholesterol, association with;TAG=DFP;PUB=12615676 DFP Uncertain 6_35391787_C->T 6 35391787 35391787 C T snp 3512.77 1/1 99 120 0 120 1.0 exonic rs2076167 PPARD AU synonymous SNV NM_006238 exon6 c.C489T p.N163N 0.680511 0.7361 0.650623 0.7539 0.7197 Uncertain 6_35420628_A->C 6 35420628 35420628 A C snp 40.77 0/1 69 6 4 2 0.33 intronic rs9470029 FANCE AR NM_021922 exon1 c.248+58A>C 0.617212 0.5238 Uncertain 6_35423489_A->G 6 35423489 35423489 A G snp 601.77 1/1 45 17 0 17 1.0 intronic rs7757405 FANCE AR NM_021922 exon2 c.3201-34A>G 0.776558 0.7123 0.734123 0.7201 0.6836 Uncertain 6_35423662_A->C 6 35423662 35423662 A C snp 3111.77 1/1 99 115 0 115 1.0 exonic rs4713867 FANCE AR synonymous SNV NM_021922 exon2 c.A387C p.P129P 0.777955 0.7133 0.735660 0.7211 0.6838 Uncertain 6_35424188_A->G 6 35424188 35424188 A G snp 487.77 0/1 99 35 16 19 0.54 intronic rs3800377 FANCE AR NM_021922 exon2 c.3808+58A>G 0.71905 0.5446 Uncertain 6_35424268_A->G 6 35424268 35424268 A G snp 90.28 1/1 9 3 0 3 1.0 intronic rs4713868 FANCE AR NM_021922 exon2 c.3808+138A>G 0.776558 0.7123 Uncertain 6_35425416_A->G 6 35425416 35425416 A G snp 2044.77 0/1 99 250 155 95 0.38 intronic rs13214239 FANCE AR NM_021922 exon3 c.5055+39A>G 0.359625 0.3393 0.412041 0.4966 0.3644 Uncertain 6_35426175_C->T 6 35426175 35426175 C T snp 1946.77 0/1 99 135 50 85 0.63 exonic rs3823434 FANCE AR synonymous SNV NM_021922 exon5 c.C1071T p.L357L 0.0583067 0.1687 0.017838 0.0383 0.1311 Uncertain 6_35443573_T->G 6 35443573 35443573 T G snp 578.77 0/1 99 30 12 18 0.6 intronic rs2076170 TEAD3 AU NM_003214 exon3 c.663+90T>G 0.417133 0.4167 Uncertain 6_35448189_T->C 6 35448189 35448189 T C snp 2664.77 0/1 99 247 131 116 0.47 intronic rs760782 TEAD3 AU NM_003214 exon10 c.5331+38T>C 0.758387 0.6171 0.739609 0.7203 0.6163 Uncertain 6_35473252_C->T 6 35473252 35473252 C T snp 680.77 0/1 99 51 27 24 0.47 intronic rs2395628 TULP1 AR NM_003322 exon5 c.7414-265C>T 0.332268 0.4246 0.3238 0.375 Uncertain 6_35474073_C->G 6 35474073 35474073 C G snp 113.77 0/1 99 13 7 6 0.46 intronic rs12215920 TULP1 AR NM_003322 exon7 c.7953+17C>G 0.298323 0.4296 0.251835 0.3447 0.4273 Uncertain 6_35477025_C->G 6 35477025 35477025 C G snp 2974.77 1/1 99 103 0 103 1.0 exonic rs2064318 TULP1 AR nonsynonymous SNV NM_003322 exon8 c.G783C p.K261N 0.838458 0.8641 0.842227 0.8215 0.8417 1 T 0.006 P -1.034 T 0.0 T 0.0 T CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000080090.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 6_35477032_A->G 6 35477032 35477032 A G snp 932.77 0/1 99 113 71 42 0.37 exonic rs2064317 TULP1 AR nonsynonymous SNV NM_003322 exon8 c.T776C p.I259T 0.39397 0.499 0.365524 0.3843 0.4880 1 T 0.0 P -1.057 T 0.001 T 0.0 T CLINSIG=untested;CLNDBN=not_provided;CLNREVSTAT=no_assertion_provided;CLNACC=RCV000086077.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Pathogenic 6_35477152_C->T 6 35477152 35477152 C T snp 6321.77 1/1 99 246 0 246 1.0 intronic rs7752728 TULP1 AR NM_003322 exon8 c.10986+63C>T 0.748203 0.8085 Uncertain 6_35477303_T->C 6 35477303 35477303 T C snp 1296.77 1/1 96 36 0 36 1.0 intronic rs9296155 TULP1 AR NM_003322 exon9 c.11307-107T>C 0.855631 0.8631 Uncertain 6_35478612_G->A 6 35478612 35478612 G A snp 2274.77 1/1 99 87 0 87 1.0 intronic rs2273001 TULP1 AR NM_003322 exon11 c.12534-25G>A 0.654752 0.7431 0.643318 0.6891 0.7193 Uncertain 6_35479574_G->C 6 35479574 35479574 G C snp 990.77 1/1 72 35 0 35 1.0 exonic rs7764472 TULP1 AR nonsynonymous SNV NM_003322 exon4 c.C200G p.T67R 0.874401 0.8671 0.899841 0.8602 0.8631 1 T 0.0 P -0.910 T 0.0 T 0.0 T Pathogenic 6_35479876_C->G 6 35479876 35479876 C G snp 50.74 1/1 6 2 0 2 1.0 intronic rs2273003 TULP1 AR NM_003322 exon13 c.13853-80C>G 0.783347 0.7956 Uncertain 6_35480262_T->C 6 35480262 35480262 T C snp 289.78 1/1 24 9 0 9 1.0 intronic rs1540910 TULP1 AR NM_003322 exon14 c.14312-153T>C 0.752796 0.7609 Uncertain 6_35610308_C->A 6 35610308 35610308 C A snp 176.9 1/1 15 5 0 5 1.0 intronic rs6902124 FKBP5 AU NM_004117 exon10 c.66885-188C>A 0.647165 0.7073 Uncertain 6_35610681_T->C 6 35610681 35610681 T C snp 671.77 1/1 51 22 0 22 1.0 intronic rs2143404 FKBP5 AU NM_004117 exon10 c.67009+61T>C 0.872404 0.8671 Uncertain 6_35705892_T->C 6 35705892 35705892 T C snp 771.77 0/1 99 64 31 33 0.52 exonic rs2817041 ARMC12 AU synonymous SNV NM_001286574 exon2 c.T252C p.Y84Y 0.759385 0.5794 0.796709 0.7930 0.6050 Uncertain 6_35706063_-->GC 6 35706063 35706063 - GC indel 313.27 0/1 1 15 4 11 0.73 intronic ARMC12 AU NM_145028 exon3 c.1275-97insGC Uncertain 6_35706097_-->G 6 35706097 35706097 - G indel 279.73 0/1 99 20 6 14 0.7 intronic rs3215830 ARMC12 AU NM_145028 exon3 c.1275-63insG 0.0231629 0.0694 Uncertain 6_35744303_C->G 6 35744303 35744303 C G snp 59.74 1/1 6 3 0 3 1.0 upstream rs2766578 CLPSL2 AU 0.366613 0.2738 Uncertain 6_35745655_C->T 6 35745655 35745655 C T snp 880.77 1/1 63 34 0 34 1.0 exonic rs2478467 CLPSL2 AU nonsynonymous SNV NM_001286550 exon3 c.C235T p.R79C 0.720847 0.623 0.720981 0.7193 0.6610 0.09 T 0.0 P -1.014 T 0.0 T 0.0 T Pathogenic 6_35749059_G->A 6 35749059 35749059 G A snp 762.77 1/1 57 26 0 26 1.0 intronic rs2766579 CLPSL1 AU NM_001010886 exon1 c.99+73G>A 0.235024 0.1558 Uncertain 6_35959707_C->T 6 35959707 35959707 C T snp 83.77 0/1 67 5 2 3 0.6 intronic rs139354174 SLC26A8 AD NM_001193476 exon14 c.47909+122C>T 0.00798722 0.0387 Uncertain 6_35992332_T->C 6 35992332 35992332 T C snp 906.77 1/1 66 33 0 33 1.0 UTR5 rs9368897 SLC26A8 AD 0.391174 0.6647 0.3408 0.5625 1 T 0.000 P -1.015 T Uncertain 6_36027142_A->G 6 36027142 36027142 A G snp 2278.77 1/1 99 90 0 90 1.0 intronic rs3730327 MAPK14 AU NM_001315 exon3 c.31190+18A>G 0.171725 0.1429 0.170229 0.1175 0.1383 Uncertain 6_36044225_A->G 6 36044225 36044225 A G snp 2284.77 1/1 99 66 0 66 1.0 intronic rs3730366 MAPK14 AU NM_001315 exon8 c.48379-88A>G 0.146765 0.1429 Uncertain 6_36070227_G->T 6 36070227 36070227 G T snp 854.77 1/1 63 22 0 22 1.0 intronic rs16884857 MAPK14 AU NM_001315 exon10 c.74413-120G>T 0.171326 0.1806 Uncertain 6_36076280_C->T 6 36076280 36076280 C T snp 1884.77 1/1 99 59 0 59 1.0 UTR3 rs6457878 MAPK14 AU 0.133187 0.1319 0.141919 Uncertain 6_36098333_T->C 6 36098333 36098333 T C snp 2359.77 1/1 99 88 0 88 1.0 UTR5 rs12191295 MAPK13 AU 0.976637 1 0.952994 0.9545 0.9974 Uncertain 6_36098410_A->C 6 36098410 36098410 A C snp 3426.77 1/1 99 139 0 139 1.0 exonic rs1059227 MAPK13 AU synonymous SNV NM_002754 exon1 c.A51C p.T17T 0.748602 0.9454 0.694415 0.6900 0.9662 Uncertain 6_36103921_G->A 6 36103921 36103921 G A snp 1926.77 1/1 99 73 0 73 1.0 intronic rs2252430 MAPK13 AU NM_002754 exon5 c.5466+96G>A 0.976038 0.999 Uncertain 6_36104803_T->C 6 36104803 36104803 T C snp 1886.77 1/1 99 59 1 58 0.98 intronic rs2815812 MAPK13 AU NM_002754 exon8 c.6368+76T>C 0.465455 0.6845 Uncertain 6_36107172_G->A 6 36107172 36107172 G A snp 1435.77 1/1 99 51 0 51 1.0 UTR3 rs2071863 MAPK13 AU 0.26258 0.5754 0.155005 0.2266 0.5751 Uncertain 6_36177857_T->C 6 36177857 36177857 T C snp 551.77 0/1 99 40 20 20 0.5 intronic rs2239798 BRPF3 AU NM_015695 exon6 c.9893-135T>C 0.211861 0.1935 Uncertain 6_36185681_G->C 6 36185681 36185681 G C snp 832.77 0/1 99 69 37 32 0.46 intronic rs12525283 BRPF3 AU NM_015695 exon9 c.17594-12G>C 0.13099 0.0536 0.151392 0.1875 0.0349 Uncertain 6_36189887_C->G 6 36189887 36189887 C G snp 695.77 1/1 51 26 0 26 1.0 intronic rs2301422 BRPF3 AU NM_015695 exon10 c.21845-57C>G 0.944089 0.9762 Uncertain 6_36190156_C->G 6 36190156 36190156 C G snp 68.77 0/1 97 10 7 3 0.3 intronic rs2157317 BRPF3 AU NM_015695 exon10 c.21943+114C>G 0.616214 0.7103 Uncertain 6_36193259_A->G 6 36193259 36193259 A G snp 1170.77 0/1 99 130 74 56 0.43 intronic rs41270094 BRPF3 AU NM_015695 exon11 c.25042+118A>G 0.211462 0.1895 Uncertain 6_36193303_C->T 6 36193303 36193303 C T snp 600.77 0/1 99 74 43 31 0.42 intronic rs59200830 BRPF3 AU NM_015695 exon11 c.25042+162C>T 0.211861 0.1895 Uncertain 6_36198397_G->- 6 36198397 36198397 G - indel 2184.73 0/1 99 144 75 69 0.48 UTR3 rs3833482 BRPF3 AU 0.211462 0.1905 0.224281 0.2019 0.1992 Uncertain 6_36198421_T->C 6 36198421 36198421 T C snp 1413.77 0/1 99 121 62 59 0.49 UTR3 rs9470234 BRPF3 AU 0.211861 0.1905 0.222385 0.2036 0.1997 Uncertain 6_36198577_G->C 6 36198577 36198577 G C snp 80.77 0/1 99 6 3 3 0.5 UTR3 rs3748045 BRPF3 AU 0.616813 0.7133 Uncertain 6_36261008_A->G 6 36261008 36261008 A G snp 1349.77 0/1 99 109 55 54 0.5 intronic rs77964096 PNPLA1 AR NM_001145717 exon3 c.22667+105A>G 0.0838658 0.0575 Uncertain 6_36261885_A->G 6 36261885 36261885 A G snp 1983.77 1/1 99 61 0 61 1.0 intronic rs4713949 PNPLA1 AR NM_001145716 exon4 c.2763-54A>G 0.987819 1 Uncertain 6_36262991_C->T 6 36262991 36262991 C T snp 310.77 0/1 51 11 2 9 0.82 intronic rs4713951 PNPLA1 AR NM_001145717 exon5 c.24904-149C>T 0.455671 0.5933 Uncertain 6_36269504_G->A 6 36269504 36269504 G A snp 156.77 0/1 99 8 3 5 0.63 intronic rs10947599 PNPLA1 AR NM_001145717 exon6 c.31401-133G>A 0.309305 0.2619 Uncertain 6_36269603_G->A 6 36269603 36269603 G A snp 997.77 0/1 99 82 39 43 0.52 intronic rs10947600 PNPLA1 AR NM_001145717 exon6 c.31401-34G>A 0.261382 0.255 0.318658 0.3872 0.2670 Uncertain 6_36270130_C->A 6 36270130 36270130 C A snp 2766.77 0/1 99 216 100 116 0.54 exonic rs12199580 PNPLA1 AR nonsynonymous SNV NM_001145717 exon6 c.C1268A p.P423H 0.282348 0.1756 0.356451 0.3893 0.1879 0.14 T 0.0 P -1.022 T 0.043 T 0.035 T Pathogenic 6_36275458_T->C 6 36275458 36275458 T C snp 1663.77 0/1 99 146 70 76 0.52 exonic rs4713956 PNPLA1 AR nonsynonymous SNV NM_001145717 exon8 c.T1564C p.S522P 0.648363 0.6091 0.660849 0.6402 0.5793 1 T 0.0 P -0.949 T 0.0 T 0.0 T Pathogenic 6_36288879_-->GTCTCAGCT 6 36288879 36288879 - GTCTCAGCT indel 973.73 0/1 99 24 15 9 0.38 intronic rs112374394 C6orf222 AU NM_001010903 exon3 c.3799-52insGTCTCAGCT 0.480032 0.5933 0.420126 Uncertain 6_36292007_G->A 6 36292007 36292007 G A snp 2791.77 0/1 99 233 111 122 0.52 intronic rs7751928 C6orf222 AU NM_001010903 exon6 c.6835+40G>A 0.283347 0.4355 0.170229 0.2054 0.4238 Uncertain 6_36294915_T->A 6 36294915 36294915 T A snp 2682.77 0/1 99 232 116 116 0.5 intronic rs6923009 C6orf222 AU NM_001010903 exon9 c.9739+44T>A 0.775559 0.7569 0.744810 0.6972 0.7506 Uncertain 6_36322548_AAC->- 6 36322548 36322550 AAC - indel 466.73 0/1 99 15 5 10 0.67 intronic rs142291137 ETV7 AU NM_001207035 exon1 c.46+84_46+86delAAC 0.0710863 0.1498 Uncertain 6_36341243_T->A 6 36341243 36341243 T A snp 718.77 0/1 99 63 29 34 0.54 exonic rs60760162 ETV7 AU synonymous SNV NM_001207036 exon3 c.A255T p.P85P 0.0654952 0.1468 0.027530 0.0401 0.1607 Uncertain 6_36343500_A->T 6 36343500 36343500 A T snp 207.77 0/1 99 16 9 7 0.44 intronic rs2067017 ETV7 AU NM_001207037 exon6 c.9185-106A>T 0.538339 0.5337 Uncertain 6_36343573_G->T 6 36343573 36343573 G T snp 1197.77 0/1 99 93 48 45 0.48 intronic rs2234078 ETV7 AU NM_001207037 exon6 c.9185-33G>T 0.0734824 0.1329 0.0335 0.1178 Uncertain 6_36355372_T->C 6 36355372 36355372 T C snp 785.77 0/1 99 59 28 31 0.53 UTR5 rs2234071 ETV7 AU 0.394768 0.4187 0.468244 Uncertain 6_36368512_G->A 6 36368512 36368512 G A snp 83.77 0/1 67 5 2 3 0.6 intronic rs7755006 PXT1 AU NM_152990 exon2 c.8815+151G>A 0.400359 0.4187 Uncertain 6_36393816_A->G 6 36393816 36393816 A G snp 1352.77 0/1 99 139 80 59 0.42 exonic rs664370 PXT1 AU nonsynonymous SNV NM_152990 exon3 c.T44C p.V15A 0.491014 0.5188 0.408454 0.3782 0.5419 0.02 T 0.0 P -1.028 T Pathogenic 6_36437713_A->G 6 36437713 36437713 A G snp 365.77 0/1 99 23 12 11 0.48 intronic rs2273882 KCTD20 AU 0.0928514 0.127 Uncertain 6_36452604_A->- 6 36452604 36452604 A - indel 37.73 0/1 75 69 51 18 0.26 splicing rs201092661 KCTD20 AU NM_001286579 exon4 c.14727+3delA 0.4206 0.3981 ID=COSM312237;OCCURENCE=1(lung) Pathogenic 6_36463627_C->T 6 36463627 36463627 C T snp 2107.77 0/1 99 193 103 90 0.47 exonic rs2071809 STK38 AU synonymous SNV NM_001305102 exon14 c.G1332A p.T444T 0.117013 0.3631 0.036368 0.0712 0.3385 Uncertain 6_36467791_C->G 6 36467791 36467791 C G snp 1046.77 0/1 99 104 64 40 0.38 intronic rs659726 STK38 AU NM_001305102 exon5 c.4207+24C>G 0.507388 0.5258 0.424419 0.4000 0.5661 Uncertain 6_36492375_T->G 6 36492375 36492375 T G snp 110.77 0/1 99 11 6 5 0.45 intronic rs3752478 STK38 AU NM_001305102 exon11 c.28680+135T>G 0.473642 0.5188 Uncertain 6_36493265_T->C 6 36493265 36493265 T C snp 1101.77 0/1 99 89 40 49 0.55 intronic rs605684 STK38 AU NM_001305102 exon12 c.29807-102T>C 0.503195 0.499 Uncertain 6_36645588_A->C 6 36645588 36645588 A C snp 1362.77 0/1 99 105 41 64 0.61 intronic rs762624 CDKN1A AU 0.446685 0.5992 0.3678 0.5455 ID=CR095246;DIS=Systemic lupus erythematosus, increased risk, association with;TAG=DFP;PUB=19262578 DFP Uncertain 6_36645696_A->G 6 36645696 36645696 A G snp 1433.77 0/1 99 103 46 57 0.55 UTR5 rs2395655 CDKN1A AU 0.527556 0.5486 0.4641 0.4706 0.05 T 0.000 P -1.045 T 0.0 T 0.0 T Uncertain 6_36652339_C->G 6 36652339 36652339 C G snp 1370.77 0/1 99 133 73 60 0.45 intronic rs3176352 CDKN1A AU NM_001220778 exon2 c.445+16C>G 0.503594 0.6121 0.387821 0.3667 0.5965 Uncertain 6_36686272_C->T 6 36686272 36686272 C T snp 1025.77 1/1 75 39 0 39 1.0 exonic rs236487 RAB44 AU synonymous SNV NM_001257357 exon7 c.C735T p.S245S 0.610623 0.6687 0.6910 0.6364 Uncertain 6_36686407_C->T 6 36686407 36686407 C T snp 1659.77 1/1 99 64 0 64 1.0 intronic rs236486 RAB44 AU NM_001257357 exon7 c.14353+42C>T 0.488618 0.4871 0.5654 0.5 Uncertain 6_36688729_T->C 6 36688729 36688729 T C snp 50.74 1/1 6 2 0 2 1.0 intronic rs129546 RAB44 AU NM_001257357 exon9 c.16915-198T>C 0.43111 0.4831 Uncertain 6_36689030_A->C 6 36689030 36689030 A C snp 6701.77 1/1 99 247 0 247 1.0 exonic rs236478 RAB44 AU synonymous SNV NM_001257357 exon9 c.A1119C p.L373L 0.71905 0.6835 0.7799 0.6667 Uncertain 6_36689630_C->T 6 36689630 36689630 C T snp 1291.77 1/1 93 49 0 49 1.0 exonic rs236477 RAB44 AU synonymous SNV NM_001257357 exon9 c.C1719T p.A573A 0.433307 0.4812 0.5254 0.5 Uncertain 6_36689961_A->C 6 36689961 36689961 A C snp 5875.77 1/1 99 214 0 214 1.0 exonic rs183541 RAB44 AU synonymous SNV NM_001257357 exon9 c.A2050C p.R684R 0.858826 0.8185 0.8894 0.8030 Uncertain 6_36695223_A->G 6 36695223 36695223 A G snp 141.03 1/1 12 4 0 4 1.0 intronic rs12201069 RAB44 AU NM_001257357 exon11 c.23341-130A>G 0.129193 0.2024 Uncertain 6_36695393_C->T 6 36695393 36695393 C T snp 1376.77 0/1 99 113 56 57 0.5 exonic rs144503348 RAB44 AU synonymous SNV NM_001257357 exon11 c.C2721T p.D907D 0.00459265 0.0218 0.0014 0.0267 Uncertain 6_36695519_T->C 6 36695519 36695519 T C snp 756.77 0/1 99 81 47 34 0.42 intronic rs236472 RAB44 AU NM_001257357 exon11 c.23456+51T>C 0.278754 0.1726 Uncertain 6_36695661_A->C 6 36695661 36695661 A C snp 99.28 1/1 9 4 1 3 0.75 intronic rs236471 RAB44 AU NM_001257357 exon11 c.23456+193A>C 0.278754 0.1726 Uncertain 6_36696330_G->A 6 36696330 36696330 G A snp 254.77 0/1 99 24 11 13 0.54 intronic rs236470 RAB44 AU NM_001257357 exon12 c.24464-146G>A 0.262181 0.1726 Uncertain 6_36698285_G->C 6 36698285 36698285 G C snp 257.77 0/1 99 17 7 10 0.59 intronic rs190201 RAB44 AU NM_001257357 exon13 c.26437-164G>C 0.28135 0.1766 Uncertain 6_36698294_G->A 6 36698294 36698294 G A snp 300.77 0/1 99 22 9 13 0.59 intronic rs236462 RAB44 AU NM_001257357 exon13 c.26437-155G>A 0.288339 0.1766 Uncertain 6_36698557_C->- 6 36698557 36698557 C - indel 117.87 0/1 15 11 3 8 0.73 intronic rs57522248 RAB44 AU NM_001257357 exon13 c.26514+31delC 0.6522 1 Uncertain 6_36698561_C->A 6 36698561 36698561 C A snp 109.77 0/1 48 9 4 5 0.56 intronic rs13199451 RAB44 AU NM_001257357 exon13 c.26514+35C>A 0.266773 0.1746 0.5115 1 Uncertain 6_36711406_G->A 6 36711406 36711406 G A snp 528.77 0/1 99 51 30 21 0.41 intronic rs3213534 CPNE5 AU NM_020939 exon2 c.1421-59G>A 0.242212 0.1806 0.333771 Uncertain 6_36712962_C->T 6 36712962 36712962 C T snp 3027.77 1/1 99 110 1 109 0.99 intronic rs743870 CPNE5 AU NM_020939 exon4 c.2883+35C>T 0.39996 0.3889 0.445248 0.4411 0.4310 Uncertain 6_36713263_A->G 6 36713263 36713263 A G snp 2466.77 1/1 99 86 0 86 1.0 exonic rs763046 CPNE5 AU synonymous SNV NM_020939 exon17 c.T1230C p.C410C 0.801318 0.8373 0.840720 0.8071 0.8255 Uncertain 6_36714139_A->G 6 36714139 36714139 A G snp 180.77 0/1 99 15 8 7 0.47 intronic rs3213535 CPNE5 AU NM_020939 exon6 c.4128-33A>G 0.249002 0.1806 0.314009 0.2834 0.2279 Uncertain 6_36714491_G->A 6 36714491 36714491 G A snp 155.77 0/1 99 12 6 6 0.5 intronic rs929051 CPNE5 AU NM_020939 exon6 c.4310+137G>A 0.433706 0.5069 Uncertain 6_36715833_A->T 6 36715833 36715833 A T snp 1140.77 1/1 84 36 0 36 1.0 intronic rs1010790 CPNE5 AU NM_020939 exon7 c.5953-164A>T 0.702276 0.6875 Uncertain 6_36715921_C->T 6 36715921 36715921 C T snp 1180.77 0/1 99 90 39 51 0.57 intronic rs3213537 CPNE5 AU NM_020939 exon7 c.5953-76C>T 0.189696 0.2133 0.189006 Uncertain 6_36723884_C->G 6 36723884 36723884 C G snp 57.77 0/1 86 11 7 4 0.36 intronic rs236443 CPNE5 AU NM_020939 exon9 c.13977-137C>G 0.298123 0.2014 Uncertain 6_36733070_A->G 6 36733070 36733070 A G snp 1499.77 0/1 99 187 117 70 0.37 intronic rs3752482 CPNE5 AU NM_020939 exon11 c.23067-41A>G 0.147963 0.1915 0.129940 0.1251 0.1768 Uncertain 6_36733132_G->A 6 36733132 36733132 G A snp 3783.77 0/1 99 250 98 152 0.61 exonic rs763048 CPNE5 AU synonymous SNV NM_020939 exon11 c.C759T p.Y253Y 0.541933 0.619 0.564509 0.6111 0.6301 Uncertain 6_36759741_G->A 6 36759741 36759741 G A snp 338.78 1/1 27 10 0 10 1.0 intronic rs9366916 CPNE5 AU NM_020939 exon14 c.49765-68G>A 0.63738 0.6825 0.564608 Uncertain 6_36759768_C->A 6 36759768 36759768 C A snp 230.77 0/1 94 12 3 9 0.75 intronic rs9349011 CPNE5 AU NM_020939 exon14 c.49765-41C>A 0.325879 0.4841 0.254037 0.3383 0.4615 Uncertain 6_36766292_C->T 6 36766292 36766292 C T snp 1620.77 0/1 99 132 64 68 0.52 intronic rs6940728 CPNE5 AU NM_020939 exon17 c.56227+21C>T 0.654353 0.6647 0.644779 0.6255 0.6572 Uncertain 6_36790583_A->G 6 36790583 36790583 A G snp 139.03 1/1 12 4 0 4 1.0 intronic rs236376 CPNE5 AU NM_020939 exon20 c.80789-250A>G 0.883586 0.995 Uncertain 6_36790630_T->C 6 36790630 36790630 T C snp 610.77 1/1 45 18 0 18 1.0 intronic rs9394384 CPNE5 AU NM_020939 exon20 c.80789-203T>C 0.456669 0.3581 Uncertain 6_36790666_G->A 6 36790666 36790666 G A snp 1092.77 1/1 78 36 0 36 1.0 intronic rs9366917 CPNE5 AU NM_020939 exon20 c.80789-167G>A 0.333267 0.3125 Uncertain 6_36823502_-->A 6 36823502 36823502 - A indel 474.73 0/1 99 19 5 14 0.74 UTR3 rs3216837 PPIL1 AU 0.348842 0.4097 Uncertain 6_36824399_C->T 6 36824399 36824399 C T snp 1768.77 0/1 99 150 69 81 0.54 exonic rs2071823 PPIL1 AU synonymous SNV NM_016059 exon3 c.G243A p.Q81Q 0.182508 0.3542 0.187068 0.2304 0.3507 Uncertain 6_36842427_C->G 6 36842427 36842427 C G snp 201.77 0/1 99 29 18 11 0.38 intronic rs2303993 C6orf89 AU 0.509585 0.6756 0.498902 Uncertain 6_36853685_-->C 6 36853685 36853685 - C indel 632.73 1/1 51 17 0 17 1.0 UTR5 rs11461876 C6orf89 AU 0.999601 1 Uncertain 6_36853786_-->G 6 36853786 36853786 - G indel 2119.73 1/1 99 59 0 59 1.0 UTR5 rs11461877 C6orf89 AU 1 1 0.998665 1 1 Uncertain 6_36853857_-->CGC 6 36853857 36853857 - CGC indel 6174.73 1/1 99 117 0 117 1.0 intronic rs112381941 C6orf89 AU NM_152734 exon1 c.2+53insCGC 0.999401 1 0.990317 Uncertain 6_36884490_C->T 6 36884490 36884490 C T snp 336.77 0/1 99 22 11 11 0.5 intronic rs2293394 C6orf89 AU NM_152734 exon6 c.30548+140C>T 0.339257 0.3502 Uncertain 6_36922385_G->A 6 36922385 36922385 G A snp 214.84 1/1 18 7 0 7 1.0 UTR5 rs1405070 PI16 AU 0.633387 0.4891 Uncertain 6_36922684_A->C 6 36922684 36922684 A C snp 1157.77 1/1 84 40 0 40 1.0 exonic rs1405069 PI16 AU nonsynonymous SNV NM_153370 exon1 c.A148C p.T50P 0.544129 0.4841 0.529371 0.4745 0.4625 1 T 0.0 P -0.927 T 0.0 T 0.001 T Pathogenic 6_36929209_A->G 6 36929209 36929209 A G snp 841.77 0/1 99 73 38 35 0.48 intronic rs139432678 PI16 AU NM_001199159 exon4 c.6690-17A>G 0.00299521 0.0129 0.000231 0.0010 0.0110 Uncertain 6_36929552_G->A 6 36929552 36929552 G A snp 241.77 0/1 99 30 21 9 0.3 intronic rs183991198 PI16 AU NM_001199159 exon5 c.7125-109G>A 0.00299521 0.0129 Uncertain 6_36929553_C->A 6 36929553 36929553 C A snp 253.77 0/1 99 30 21 9 0.3 intronic rs149869043 PI16 AU NM_001199159 exon5 c.7125-108C>A 0.00299521 0.0129 Uncertain 6_36929653_C->T 6 36929653 36929653 C T snp 2128.77 0/1 99 197 100 97 0.49 intronic rs144897670 PI16 AU NM_001199159 exon5 c.7125-8C>T 0.00299521 0.0129 0.000231 0.0010 0.0110 Uncertain 6_36930580_A->C 6 36930580 36930580 A C snp 80.77 0/1 28 4 1 3 0.75 intronic rs147094001 PI16 AU NM_001199159 exon6 c.8174-130A>C 0.00299521 0.0129 Uncertain 6_36931162_A->G 6 36931162 36931162 A G snp 5671.77 1/1 99 193 2 191 0.99 exonic rs2296934 PI16 AU synonymous SNV NM_153370 exon5 c.A1044G p.E348E 0.598442 0.4871 0.599877 0.5943 0.4857 Uncertain 6_36931386_C->T 6 36931386 36931386 C T snp 2240.77 0/1 99 189 100 89 0.47 exonic rs138721292 PI16 AU nonsynonymous SNV NM_153370 exon5 c.C1268T p.P423L 0.00299521 0.0129 0.000231 0.0010 0.0111 0 D 1.000 D -0.927 T 0.906 T 0.36 P Pathogenic 6_36931491_G->A 6 36931491 36931491 G A snp 1343.77 0/1 99 86 42 44 0.51 intronic rs34165286 PI16 AU NM_001199159 exon6 c.8852+103G>A 0.206869 0.3522 Uncertain 6_36936771_A->G 6 36936771 36936771 A G snp 868.77 0/1 99 64 29 35 0.55 intronic rs7772210 MTCH1 AU NM_001271641 exon1 c.72+21A>G 0.234425 0.0933 0.270260 0.2622 0.0858 Uncertain 6_36943575_C->T 6 36943575 36943575 C T snp 2769.77 0/1 99 211 99 112 0.53 intronic rs115240884 MTCH1 AU NM_001271641 exon6 c.6815+82C>T 0.0399361 0.0169 Uncertain 6_36944479_T->C 6 36944479 36944479 T C snp 143.77 0/1 99 13 8 5 0.38 intronic rs9296204 MTCH1 AU NM_001271641 exon7 c.8296-495T>C 0.16893 0.0486 Uncertain 6_36944495_A->G 6 36944495 36944495 A G snp 216.84 1/1 18 6 0 6 1.0 intronic rs708007 MTCH1 AU NM_001271641 exon7 c.8296-479A>G 0.652556 0.4504 Uncertain 6_36946511_G->A 6 36946511 36946511 G A snp 800.77 0/1 99 67 37 30 0.45 intronic rs142251504 MTCH1 AU NM_001271641 exon10 c.9709+124G>A 0.00678914 0.0139 Uncertain 6_36949527_C->T 6 36949527 36949527 C T snp 1132.77 0/1 99 69 29 40 0.58 intronic rs2293390 MTCH1 AU NM_001271641 exon11 c.12770+79C>T 0.583466 0.6071 Uncertain 6_36976466_C->T 6 36976466 36976466 C T snp 154.9 1/1 15 5 0 5 1.0 intronic rs831511 FGD2 AU NM_173558 exon2 c.3016-143C>T 0.326078 0.5407 Uncertain 6_36976637_G->C 6 36976637 36976637 G C snp 2647.77 1/1 99 97 1 96 0.99 exonic rs831510 FGD2 AU nonsynonymous SNV NM_173558 exon2 c.G96C p.Q32H 0.325879 0.5417 0.262417 0.2961 0.5609 0.61 T 0.0 P -0.985 T 0.0 T 0.0 T Pathogenic 6_36976946_G->T 6 36976946 36976946 G T snp 721.77 1/1 54 21 0 21 1.0 intronic rs4714032 FGD2 AU NM_173558 exon2 c.3248+105G>T 0.260583 0.5387 Uncertain 6_36978745_G->A 6 36978745 36978745 G A snp 5332.77 1/1 99 203 0 203 1.0 splicing rs1724088 FGD2 AU NM_173558 exon3 c.5155-3G>A 0.340455 0.5456 0.296940 0.3196 0.5695 Pathogenic 6_36978834_A->G 6 36978834 36978834 A G snp 2231.77 1/1 99 66 0 66 1.0 intronic rs1753288 FGD2 AU NM_173558 exon3 c.5233+8A>G 0.421925 0.5476 0.386821 0.3953 0.5743 Uncertain 6_36978879_T->C 6 36978879 36978879 T C snp 936.77 1/1 72 27 0 27 1.0 intronic rs1724087 FGD2 AU NM_173558 exon3 c.5233+53T>C 0.521565 0.5595 0.4347 0.5827 Uncertain 6_36978954_G->A 6 36978954 36978954 G A snp 96.28 1/1 9 3 0 3 1.0 intronic rs1753289 FGD2 AU NM_173558 exon3 c.5233+128G>A 0.59984 0.6825 Uncertain 6_36982309_-->T 6 36982309 36982309 - T indel 2188.73 1/1 99 53 0 53 1.0 intronic rs398094107 FGD2 AU NM_173558 exon7 c.8828-112insT 0.217851 0.497 Uncertain 6_36982947_C->T 6 36982947 36982947 C T snp 668.77 1/1 51 17 0 17 1.0 intronic rs831494 FGD2 AU NM_173558 exon8 c.9221+133C>T 0.432109 0.5982 Uncertain 6_36989391_G->C 6 36989391 36989391 G C snp 2876.77 1/1 99 110 0 110 1.0 intronic rs831502 FGD2 AU NM_173558 exon12 c.15787+11G>C 0.765974 0.878 0.657567 0.6643 0.9004 Uncertain 6_36989846_G->C 6 36989846 36989846 G C snp 133.03 1/1 12 4 0 4 1.0 intronic rs831500 FGD2 AU NM_173558 exon13 c.16421-168G>C 0.751398 0.877 Uncertain 6_36990736_T->C 6 36990736 36990736 T C snp 5496.77 1/1 99 190 0 190 1.0 intronic rs831499 FGD2 AU NM_173558 exon13 c.16553+590T>C 0.765974 0.877 Uncertain 6_36995222_G->A 6 36995222 36995222 G A snp 3536.77 1/1 99 134 0 134 1.0 exonic rs2274587 FGD2 AU synonymous SNV NM_173558 exon15 c.G1623A p.T541T 0.227436 0.501 0.119945 0.1503 0.5092 Uncertain 6_37138024_GCA->- 6 37138024 37138026 GCA - indel 727.73 1/1 45 15 0 15 1.0 UTR5 rs398001205 PIM1 AU Uncertain 6_37139322_T->C 6 37139322 37139322 T C snp 1065.77 0/1 99 95 48 47 0.49 intronic rs262938 PIM1 AU NM_002648 exon4 c.916+55T>C 0.456669 0.4157 Uncertain 6_37140683_T->A 6 37140683 37140683 T A snp 43.77 0/1 72 22 18 4 0.18 intronic rs2070891 PIM1 AU NM_002648 exon5 c.2420-88T>A 0.0561102 0.1567 Uncertain 6_37140684_T->A 6 37140684 37140684 T A snp 76.77 0/1 99 23 18 5 0.22 intronic rs2073474 PIM1 AU NM_002648 exon5 c.2420-87T>A 0.0828674 0.1607 Uncertain 6_37180237_G->A 6 37180237 37180237 G A snp 796.77 1/1 60 22 0 22 1.0 UTR3 rs1224329 TMEM217 AU 0.753794 0.8929 0.7873 0.8711 Uncertain 6_37180355_G->A 6 37180355 37180355 G A snp 3794.77 1/1 99 146 1 145 0.99 UTR3 rs1150789 TMEM217 AU 0.551518 0.8234 0.5951 0.7843 Uncertain 6_37180523_A->G 6 37180523 37180523 A G snp 5100.77 1/1 99 183 0 183 1.0 UTR3 rs1150790 TMEM217 AU 0.798722 0.8938 0.7878 0.8837 Uncertain 6_37250112_A->G 6 37250112 37250112 A G snp 2115.77 1/1 99 78 0 78 1.0 exonic rs195753 TBC1D22B AU synonymous SNV NM_017772 exon4 c.A573G p.Q191Q 0.924521 0.9018 0.910042 0.9073 0.9070 Uncertain 6_37252210_C->T 6 37252210 37252210 C T snp 4474.77 1/1 99 155 0 155 1.0 exonic rs3818136 TBC1D22B AU synonymous SNV NM_017772 exon6 c.C771T p.N257N 0.697284 0.8462 0.632708 0.6821 0.8554 Uncertain 6_37254990_T->C 6 37254990 37254990 T C snp 707.77 1/1 54 18 0 18 1.0 intronic rs2622892 TBC1D22B AU NM_017772 exon7 c.29155+142T>C 0.901957 0.9018 Uncertain 6_37280844_A->G 6 37280844 37280844 A G snp 1274.77 1/1 93 36 0 36 1.0 intronic rs149708 TBC1D22B AU NM_017772 exon9 c.55107+44A>G 0.903754 0.9018 0.890435 0.8956 0.9071 Uncertain 6_37281834_T->C 6 37281834 37281834 T C snp 261.8 1/1 21 7 0 7 1.0 intronic rs149705 TBC1D22B AU NM_017772 exon10 c.55974+167T>C 0.853634 0.9018 Uncertain 6_37321807_C->G 6 37321807 37321807 C G snp 1190.77 1/1 84 48 0 48 1.0 UTR5 rs195420 RNF8 AU 0.294529 0.2381 Uncertain 6_37326865_-->TG 6 37326865 37326865 - TG indel 1842.73 1/1 99 36 0 36 1.0 intronic rs112940773 RNF8 AU NM_003958 exon2 c.6281-1356insTG 0.0591054 0.1022 Uncertain 6_37328164_G->A 6 37328164 37328164 G A snp 6853.77 1/1 99 244 0 244 1.0 intronic rs56203665 RNF8 AU NM_003958 exon2 c.6281-57G>A 0.0591054 0.1022 Uncertain 6_37328215_-->T 6 37328215 37328215 - T indel 10438.7 1/1 99 249 0 249 1.0 intronic rs556314191 RNF8 AU NM_003958 exon2 c.6281-6insT 0.243011 0.1022 0.219169 0.0800 0.1068 Uncertain 6_37339119_T->C 6 37339119 37339119 T C snp 1360.77 1/1 99 42 0 42 1.0 intronic rs57118340 RNF8 AU NM_003958 exon4 c.17347-168T>C 0.0479233 0.0823 Uncertain 6_37348920_C->T 6 37348920 37348920 C T snp 4189.77 1/1 99 151 2 149 0.99 splicing rs2284923 RNF8 AU NM_003958 exon7 c.26985-5C>T 0.604034 0.755 0.500615 0.5179 0.7720 Pathogenic 6_37349033_G->A 6 37349033 37349033 G A snp 6557.77 1/1 99 229 1 228 1.0 exonic rs2284922 RNF8 AU synonymous SNV NM_003958 exon7 c.G1344A p.T448T 0.560304 0.7361 0.404275 0.4395 0.7436 Uncertain 6_37418327_A->G 6 37418327 37418327 A G snp 80.77 0/1 99 6 3 3 0.5 intronic rs2252920 CMTR1 AU NM_015050 exon5 c.14714+208A>G 0.670727 0.4573 Uncertain 6_37447075_G->A 6 37447075 37447075 G A snp 835.77 0/1 99 67 31 36 0.54 intronic rs2797790 CMTR1 AU NM_015050 exon23 c.43626+44G>A 0.660743 0.4524 0.719360 0.6585 0.4425 Uncertain 6_37450914_T->C 6 37450914 37450914 T C snp 1619.77 0/1 99 145 71 74 0.51 UTR3 rs10692 CCDC167 AU 0.670927 0.4563 0.740427 0.6867 0.4663 0.02 T 0.0 P -0.987 T Uncertain 6_37501866_A->G 6 37501866 37501866 A G snp 239.77 0/1 99 12 4 8 0.67 ncRNA_intronic rs1541227 LOC100505530 AU 0.138978 0.2093 Uncertain 6_37501967_A->G 6 37501967 37501967 A G snp 2596.77 1/1 99 96 0 96 1.0 ncRNA_intronic rs2797786 LOC100505530 AU 0.729633 0.3621 Uncertain 6_37522966_T->C 6 37522966 37522966 T C snp 196.77 0/1 60 8 2 6 0.75 downstream rs6942122 MIR4462 AU 0.597045 0.2421 Uncertain 6_37606304_C->T 6 37606304 37606304 C T snp 1324.77 0/1 99 115 56 59 0.51 intronic rs3778013 MDGA1 AU NM_153487 exon3 c.1169-8C>T 0.183506 0.4187 0.070971 0.1187 0.4044 Uncertain 6_37611796_G->A 6 37611796 37611796 G A snp 366.77 1/1 30 13 0 13 1.0 intronic rs45511994 MDGA1 AU NM_153487 exon4 c.6576+77G>A 0.527756 0.4841 Uncertain 6_37615258_A->G 6 37615258 37615258 A G snp 88.28 1/1 9 5 0 5 1.0 intronic rs6901281 MDGA1 AU NM_153487 exon8 c.9957+158A>G 0.539137 0.5079 Uncertain 6_37620129_G->A 6 37620129 37620129 G A snp 3176.77 1/1 99 106 0 106 1.0 intronic rs2273109 MDGA1 AU NM_153487 exon11 c.14973+13G>A 0.690895 0.8343 0.627839 0.7260 0.8671 Uncertain 6_37623566_C->T 6 37623566 37623566 C T snp 5143.77 1/1 99 193 0 193 1.0 exonic rs3846874 MDGA1 AU synonymous SNV NM_153487 exon4 c.G489A p.P163P 0.63738 0.8313 0.576075 0.6677 0.8636 Uncertain 6_37631768_A->G 6 37631768 37631768 A G snp 1390.77 0/1 99 116 56 60 0.52 exonic rs10947690 MDGA1 AU nonsynonymous SNV NM_153487 exon2 c.T182C p.L61P 0.0848642 0.006 0.171762 0.1717 0.0103 0.26 T 1.000 P -0.665 T 0.997 D 0.959 D Pathogenic 6_38119895_G->C 6 38119895 38119895 G C snp 221.77 0/1 57 9 2 7 0.78 intronic rs881681 ZFAND3 AU NM_021943 exon6 c.332289-115G>C 0.580272 0.4623 Uncertain 6_38147355_A->G 6 38147355 38147355 A G snp 2089.77 0/1 99 203 116 87 0.43 intronic rs6458044 BTBD9 AU NM_152733 exon1 c.198+4397A>G 0.513778 0.1548 0.5747 0.1959 Uncertain 6_38147745_C->T 6 38147745 38147745 C T snp 50.74 1/1 6 2 0 2 1.0 intronic rs7742915 BTBD9 AU NM_152733 exon1 c.198+4787C>T 0.460264 0.1548 Uncertain 6_38455375_G->A 6 38455375 38455375 G A snp 40.77 0/1 69 6 4 2 0.33 intronic rs200396862 BTBD9 AU NM_001172418 exon6 c.227919+84696G>A Uncertain 6_38472125_G->C 6 38472125 38472125 G C snp 715.77 1/1 54 20 0 20 1.0 intronic rs9380754 BTBD9 AU NM_152733 exon6 c.402615-73250G>C 0.869209 0.995 Uncertain 6_38472126_G->T 6 38472126 38472126 G T snp 732.77 1/1 57 22 0 22 1.0 intronic rs9380755 BTBD9 AU NM_152733 exon6 c.402615-73249G>T 0.864018 0.996 Uncertain 6_38472176_A->G 6 38472176 38472176 A G snp 1934.77 1/1 99 63 1 62 0.98 intronic rs73426901 BTBD9 AU NM_152733 exon6 c.402615-73199A>G 0.398562 0.4683 Uncertain 6_38472287_C->A 6 38472287 38472287 C A snp 1382.77 0/1 99 157 90 67 0.43 intronic BTBD9 AU NM_152733 exon6 c.402615-73088C>A Uncertain 6_38650588_T->A 6 38650588 38650588 T A snp 5071.77 1/1 99 186 0 186 1.0 exonic rs1130534 GLO1 AU synonymous SNV NM_006708 exon4 c.A372T p.G124G 0.234824 0.2312 0.179533 0.1613 0.2347 Uncertain 6_38652456_G->T 6 38652456 38652456 G T snp 99.28 1/1 9 3 0 3 1.0 intronic rs2471999 GLO1 AU NM_006708 exon4 c.7220+166G>T 0.554513 0.3958 Uncertain 6_38670837_G->A 6 38670837 38670837 G A snp 4893.77 1/1 99 192 1 191 0.99 UTR5 rs1049346 GLO1 AU 0.564696 0.5833 0.546692 0.5234 0.6296 Uncertain 6_38748948_A->G 6 38748948 38748948 A G snp 639.77 0/1 99 54 32 22 0.41 intronic rs78570811 DNAH8 AU NM_001206927 exon16 c.58444-81A>G 0.0489217 0.1399 Uncertain 6_38750705_A->G 6 38750705 38750705 A G snp 191.77 0/1 99 12 6 6 0.5 intronic rs3800357 DNAH8 AU NM_001206927 exon17 c.60194-74A>G 0.225439 0.1627 Uncertain 6_38770968_A->T 6 38770968 38770968 A T snp 584.77 0/1 99 47 22 25 0.53 exonic rs139961713 DNAH8 AU nonsynonymous SNV NM_001206927 exon22 c.A2915T p.E972V 0.0155751 0.0317 0.000846 0.0084 0.0389 0.29 T 0.998 D -1.101 T 0.026 T 0.016 T Pathogenic 6_38799955_A->G 6 38799955 38799955 A G snp 40.77 0/1 69 5 3 2 0.4 intronic rs982705 DNAH8 AU NM_001206927 exon31 c.109512-142A>G 0.719649 0.8383 Uncertain 6_38800164_G->A 6 38800164 38800164 G A snp 912.77 0/1 99 95 51 44 0.46 exonic rs9357283 DNAH8 AU nonsynonymous SNV NM_001206927 exon31 c.G4255A p.E1419K 0.182308 0.3423 0.140397 0.1518 0.3584 0.69 T 0.753 P -1.020 T 0.0 T 0.002 T Pathogenic 6_38810043_G->A 6 38810043 38810043 G A snp 477.77 0/1 99 29 12 17 0.59 intronic rs6921238 DNAH8 AU NM_001206927 exon34 c.119558-100G>A 0.188099 0.3413 Uncertain 6_38820451_G->A 6 38820451 38820451 G A snp 1538.77 0/1 99 119 53 66 0.55 intronic rs9369085 DNAH8 AU NM_001206927 exon40 c.129884-18G>A 0.451677 0.6954 0.370137 0.4428 0.7021 Uncertain 6_38820599_T->G 6 38820599 38820599 T G snp 683.77 0/1 99 37 14 23 0.62 intronic rs9380787 DNAH8 AU NM_001206927 exon40 c.129989+25T>G 0.50599 0.8343 0.378210 0.4905 0.8500 Uncertain 6_38825329_C->T 6 38825329 38825329 C T snp 2274.77 0/1 99 191 93 98 0.51 exonic rs2061907 DNAH8 AU synonymous SNV NM_001206927 exon42 c.C5769T p.H1923H 0.484225 0.6944 0.403045 0.4523 0.7011 Uncertain 6_38828424_-->T 6 38828424 38828424 - T indel 401.73 0/1 99 46 19 27 0.59 intronic rs34840510 DNAH8 AU NM_001206927 exon43 c.137820+19insT 0.485623 0.6944 0.403852 0.4582 0.6996 Uncertain 6_38828453_A->T 6 38828453 38828453 A T snp 266.77 0/1 99 24 12 12 0.5 intronic rs6458073 DNAH8 AU NM_001206927 exon43 c.137820+48A>T 0.485623 0.6944 0.400416 0.4535 0.6974 Uncertain 6_38840601_G->A 6 38840601 38840601 G A snp 1873.77 0/1 99 157 84 73 0.46 intronic rs2235719 DNAH8 AU NM_001206927 exon50 c.149973+43G>A 0.213059 0.3512 0.177050 0.2367 0.3635 Uncertain 6_38841101_G->A 6 38841101 38841101 G A snp 1533.77 0/1 99 138 66 72 0.52 exonic rs9380795 DNAH8 AU synonymous SNV NM_001206927 exon52 c.G7569A p.K2523K 0.533347 0.8333 0.404813 0.4782 0.8446 Uncertain 6_38843426_C->T 6 38843426 38843426 C T snp 962.77 0/1 99 114 72 42 0.37 exonic rs6458080 DNAH8 AU synonymous SNV NM_001206927 exon53 c.C7680T p.V2560V 0.534345 0.8333 0.406735 0.4780 0.8451 Uncertain 6_38851308_A->G 6 38851308 38851308 A G snp 77.77 0/1 67 5 2 3 0.6 intronic rs4714191 DNAH8 AU NM_001206927 exon55 c.160647+76A>G 0.367013 0.6637 Uncertain 6_38851669_C->T 6 38851669 38851669 C T snp 1436.77 0/1 99 158 87 71 0.45 exonic rs4714192 DNAH8 AU synonymous SNV NM_001206927 exon56 c.C8154T p.Y2718Y 0.24361 0.3512 0.209826 0.2450 0.3611 Uncertain 6_38867770_C->T 6 38867770 38867770 C T snp 68.77 0/1 97 11 8 3 0.27 intronic rs62398570 DNAH8 AU NM_001206927 exon62 c.177097+88C>T 0.0553115 0.1409 Uncertain 6_38875526_G->A 6 38875526 38875526 G A snp 40.77 0/1 69 5 3 2 0.4 ncRNA_exonic rs9369091 LOC100131047 AU 0.711861 0.8185 Uncertain 6_38882938_G->- 6 38882938 38882938 G - indel 391.73 0/1 99 26 14 12 0.46 ncRNA_intronic rs5875644 LOC100131047 AU 0.144968 0.1538 0.117402 0.1404 0.1421 Uncertain 6_38899485_G->C 6 38899485 38899485 G C snp 116.77 0/1 99 9 5 4 0.44 ncRNA_intronic rs9296268 LOC100131047 AU 0.784345 0.8442 Uncertain 6_38905680_C->T 6 38905680 38905680 C T snp 34.77 0/1 63 24 20 4 0.17 ncRNA_intronic LOC100131047 AU Uncertain 6_38906072_A->G 6 38906072 38906072 A G snp 1435.77 0/1 99 102 46 56 0.55 ncRNA_intronic rs2073037 LOC100131047 AU 0.396965 0.3363 Uncertain 6_38919309_A->G 6 38919309 38919309 A G snp 2444.77 0/1 99 223 118 105 0.47 ncRNA_intronic rs10947765 LOC100131047 AU 0.147963 0.1577 0.125327 0.1390 0.1619 Uncertain 6_38941611_C->G 6 38941611 38941611 C G snp 1550.77 0/1 99 126 59 67 0.53 intronic rs4711567 DNAH8 AU NM_001206927 exon84 c.251004+22C>G 0.0780751 0.0784 0.082193 0.0923 0.0715 Uncertain 6_38952287_G->T 6 38952287 38952287 G T snp 40.77 0/1 33 4 2 2 0.5 intronic rs35676616 DNAH8 AU NM_001206927 exon87 c.261498+204G>T 0.436102 0.254 Uncertain 6_38957771_T->C 6 38957771 38957771 T C snp 1180.77 0/1 99 84 38 46 0.55 intronic rs3737095 DNAH8 AU NM_001206927 exon88 c.267202-16T>C 0.328474 0.252 0.408273 0.4003 0.2561 Uncertain 6_38957853_A->G 6 38957853 38957853 A G snp 2785.77 0/1 99 228 107 121 0.53 exonic rs3737094 DNAH8 AU synonymous SNV NM_001206927 exon88 c.A13119G p.L4373L 0.328674 0.252 0.408350 0.3943 0.2551 Uncertain 6_38979946_T->A 6 38979946 38979946 T A snp 315.77 0/1 49 13 2 11 0.85 intronic rs9296273 DNAH8 AU NM_001206927 exon90 c.289405-44T>A 0.784345 0.8581 0.794462 0.8385 0.8524 Uncertain 6_39033420_A->G 6 39033420 39033420 A G snp 483.77 0/1 99 29 13 16 0.55 intronic rs910163 GLP1R AU NM_002062 exon4 c.16870-66A>G 0.510383 0.5585 Uncertain 6_39033427_A->T 6 39033427 39033427 A T snp 553.77 0/1 99 35 17 18 0.51 intronic rs910162 GLP1R AU NM_002062 exon4 c.16870-59A>T 0.509984 0.5585 Uncertain 6_39033593_G->A 6 39033593 39033593 G A snp 1948.77 0/1 99 173 88 85 0.49 exonic rs3765468 GLP1R AU synonymous SNV NM_002062 exon4 c.G390A p.K130K 0.113219 0.2063 0.062058 0.1219 0.2438 Uncertain 6_39033602_A->G 6 39033602 39033602 A G snp 4587.77 1/1 99 172 0 172 1.0 exonic rs6918287 GLP1R AU synonymous SNV NM_002062 exon4 c.A399G p.E133E 0.991214 1 0.991004 0.9885 0.9998 Uncertain 6_39033778_T->A 6 39033778 39033778 T A snp 320.77 0/1 99 19 7 12 0.63 intronic rs3765466 GLP1R AU NM_002062 exon4 c.16989+173T>A 0.440096 0.4454 Uncertain 6_39034195_A->C 6 39034195 39034195 A C snp 1060.77 0/1 99 59 21 38 0.64 intronic rs4711571 GLP1R AU NM_002062 exon5 c.17463+116A>C 0.259185 0.4395 Uncertain 6_39034210_A->G 6 39034210 39034210 A G snp 767.77 0/1 99 47 18 29 0.62 intronic rs4711572 GLP1R AU NM_002062 exon5 c.17463+131A>G 0.44369 0.4454 Uncertain 6_39034248_G->A 6 39034248 39034248 G A snp 349.77 0/1 99 24 11 13 0.54 intronic rs9296277 GLP1R AU NM_002062 exon5 c.17463+169G>A 0.44349 0.4454 Uncertain 6_39034307_A->G 6 39034307 39034307 A G snp 93.28 1/1 9 3 0 3 1.0 intronic rs9296278 GLP1R AU NM_002062 exon5 c.17463+228A>G 0.44349 0.4454 Uncertain 6_39034313_C->G 6 39034313 39034313 C G snp 56.74 1/1 6 2 0 2 1.0 intronic rs9296279 GLP1R AU NM_002062 exon5 c.17463+234C>G 0.443091 0.4454 Uncertain 6_39040654_A->C 6 39040654 39040654 A C snp 2271.77 0/1 99 230 124 106 0.46 exonic rs2235868 GLP1R AU synonymous SNV NM_002062 exon6 c.A526C p.R176R 0.445288 0.4444 0.463171 0.4870 0.4430 Uncertain 6_39041502_A->C 6 39041502 39041502 A C snp 2072.77 0/1 99 175 88 87 0.5 exonic rs1042044 GLP1R AU nonsynonymous SNV NM_002062 exon7 c.A780C p.L260F 0.578474 0.5506 0.566123 0.5638 0.5565 1 T 0.000 P -0.946 T 0.0 T 0.006 T Pathogenic 6_39041693_C->T 6 39041693 39041693 C T snp 721.77 0/1 99 38 13 25 0.66 intronic rs10305478 GLP1R AU NM_002062 exon7 c.24929+148C>T 0.0990415 0.1071 Uncertain 6_39041710_C->T 6 39041710 39041710 C T snp 456.77 0/1 99 24 9 15 0.63 intronic rs10305479 GLP1R AU NM_002062 exon7 c.24929+165C>T 0.11242 0.2024 Uncertain 6_39046201_A->G 6 39046201 39046201 A G snp 1651.77 0/1 99 136 68 68 0.5 intronic rs761387 GLP1R AU NM_002062 exon8 c.29542+43A>G 0.153355 0.2054 0.094879 0.1374 0.1977 Uncertain 6_39046871_C->T 6 39046871 39046871 C T snp 2609.77 0/1 99 200 94 106 0.53 intronic rs761386 GLP1R AU NM_002062 exon10 c.30271-16C>T 0.0980431 0.2024 0.029602 0.0755 0.1967 Uncertain 6_39047036_AG->- 6 39047036 39047037 AG - indel 1326.73 0/1 99 96 41 55 0.57 intronic rs5875654 GLP1R AU NM_002062 exon10 c.30360+60_30360+61delAG 0.205671 0.246 Uncertain 6_39048491_A->C 6 39048491 39048491 A C snp 307.77 0/1 99 28 15 13 0.46 exonic rs1126476 GLP1R AU synonymous SNV NM_002062 exon12 c.A1200C p.I400I 0.491014 0.4593 0.513532 0.4997 0.4533 Uncertain 6_39077192_-->TCC 6 39077192 39077192 - TCC indel 2434.73 0/1 99 114 61 53 0.46 UTR5 rs138538630 SAYSD1 AU 0.117812 0.2778 Uncertain 6_39162206_A->G 6 39162206 39162206 A G snp 1446.77 1/1 99 42 0 42 1.0 intronic rs2815098 KCNK5 AU NM_003740 exon2 c.3448+93A>G 0.992812 1 Uncertain 6_39162227_G->A 6 39162227 39162227 G A snp 861.77 0/1 99 62 31 31 0.5 intronic rs1541816 KCNK5 AU NM_003740 exon2 c.3448+114G>A 0.470847 0.755 Uncertain 6_39162599_-->A 6 39162599 39162599 - A indel 126.73 0/1 99 14 8 6 0.43 intronic rs138154290 KCNK5 AU NM_003740 exon3 c.3871+63insA 0.0976438 0.0883 Uncertain 6_39196662_C->A 6 39196662 39196662 C A snp 883.77 0/1 99 71 34 37 0.52 intronic rs2241595 KCNK5 AU NM_003740 exon5 c.38036-39C>A 0.212859 0.3105 0.144856 0.1421 0.3475 Uncertain 6_39304103_T->C 6 39304103 39304103 T C snp 39.77 0/1 68 4 2 2 0.5 UTR3 rs72858477 KIF6 AU 0.0197684 0.0089 Uncertain 6_39311351_C->G 6 39311351 39311351 C G snp 153.77 0/1 63 7 2 5 0.71 intronic rs746724 KIF6 AU NM_145027 exon2 c.7177-133C>G 0.235423 0.1855 Uncertain 6_39313618_-->A 6 39313618 39313618 - A indel 5230.73 1/1 99 118 0 118 1.0 intronic rs34799567 KIF6 AU NM_145027 exon3 c.9258+53insA 0.334265 0.2133 0.334904 Uncertain 6_39313772_T->C 6 39313772 39313772 T C snp 212.84 1/1 18 6 0 6 1.0 intronic rs62397181 KIF6 AU NM_145027 exon3 c.9258+207T>C 0.327276 0.2143 Uncertain 6_39324923_A->G 6 39324923 39324923 A G snp 222.84 1/1 18 6 0 6 1.0 intronic rs20456 KIF6 AU NM_145027 exon5 c.20745-129A>G 0.578075 0.5268 Uncertain 6_39325078_A->G 6 39325078 39325078 A G snp 3136.77 1/1 99 124 0 124 1.0 exonic rs20455 KIF6 AU nonsynonymous SNV NM_145027 exon19 c.T2155C p.W719R 0.539736 0.5238 0.501461 0.4176 0.4684 0.65 T 0.0 P -1.060 T 0.0 T 0.0 T ID=CM074911;DIS=Coronary heart disease, association with;TAG=DP;PUB=18073581 DP Pathogenic 6_39328450_C->T 6 39328450 39328450 C T snp 432.77 0/1 99 28 13 15 0.54 intronic rs56731267 KIF6 AU NM_145027 exon6 c.23999+144C>T 0.212061 0.4048 Uncertain 6_39330135_C->T 6 39330135 39330135 C T snp 149.77 0/1 99 12 5 7 0.58 intronic rs56003110 KIF6 AU NM_145027 exon7 c.25902-74C>T 0.211262 0.3948 Uncertain 6_39353530_C->A 6 39353530 39353530 C A snp 75.77 0/1 99 60 43 17 0.28 intronic KIF6 AU NM_145027 exon8 c.49141+82C>A Uncertain 6_39353532_G->A 6 39353532 39353532 G A snp 108.77 0/1 99 58 44 14 0.24 intronic KIF6 AU NM_145027 exon8 c.49141+84G>A Uncertain 6_39585399_A->G 6 39585399 39585399 A G snp 258.77 0/1 99 19 11 8 0.42 intronic rs2466406 KIF6 AU NM_145027 exon18 c.276787+4305A>G 0.578674 0.4147 Uncertain 6_39602505_C->T 6 39602505 39602505 C T snp 331.77 0/1 99 24 12 12 0.5 intronic rs62403326 KIF6 AU NM_145027 exon19 c.298317-119C>T 0.0780751 0.0407 Uncertain 6_39682367_G->A 6 39682367 39682367 G A snp 1576.77 0/1 99 114 56 58 0.51 intronic rs303701 KIF6 AU NM_145027 exon21 c.378160-100G>A 0.85004 0.9603 Uncertain 6_39828593_A->T 6 39828593 39828593 A T snp 1600.77 1/1 99 45 0 45 1.0 intronic rs2504099 DAAM2 AU NM_001201427 exon3 c.4625-110A>T 0.518171 0.5327 Uncertain 6_39828862_A->C 6 39828862 39828862 A C snp 3527.77 1/1 99 118 0 118 1.0 intronic rs2504098 DAAM2 AU NM_001201427 exon3 c.4715+69A>C 0.647364 0.5397 0.6427 0.5931 Uncertain 6_39832111_A->G 6 39832111 39832111 A G snp 2173.77 1/1 99 82 0 82 1.0 intronic rs2504787 DAAM2 AU NM_001201427 exon4 c.8130-97A>G 0.631989 0.5466 Uncertain 6_39832363_C->G 6 39832363 39832363 C G snp 59.74 1/1 6 3 0 3 1.0 intronic rs2504094 DAAM2 AU NM_001201427 exon4 c.8205+80C>G 0.752396 0.7688 Uncertain 6_39832964_T->C 6 39832964 39832964 T C snp 1439.77 1/1 99 47 0 47 1.0 intronic rs2504093 DAAM2 AU NM_001201427 exon5 c.8772+114T>C 0.705471 0.5913 Uncertain 6_39839164_T->C 6 39839164 39839164 T C snp 933.77 1/1 66 38 0 38 1.0 intronic rs2504088 DAAM2 AU NM_001201427 exon9 c.15203-117T>C 0.749601 0.7708 Uncertain 6_39846137_A->G 6 39846137 39846137 A G snp 1371.77 1/1 99 49 0 49 1.0 intronic rs2504086 DAAM2 AU NM_001201427 exon13 c.22101-42A>G 0.636382 0.7688 0.573221 0.6140 0.7979 Uncertain 6_39851818_G->A 6 39851818 39851818 G A snp 2172.77 1/1 99 80 0 80 1.0 exonic rs3003929 DAAM2 AU synonymous SNV NM_001201427 exon15 c.G1926A p.K642K 0.602236 0.749 0.545870 0.6112 0.7872 Uncertain 6_39855112_T->G 6 39855112 39855112 T G snp 141.03 1/1 12 5 0 5 1.0 intronic rs3003945 DAAM2 AU NM_001201427 exon16 c.31183-149T>G 0.649561 0.7917 Uncertain 6_39855427_C->T 6 39855427 39855427 C T snp 1487.77 1/1 99 46 0 46 1.0 intronic rs3008810 DAAM2 AU NM_001201427 exon16 c.31290+59C>T 0.507788 0.5685 Uncertain 6_39855490_-->TGGA 6 39855490 39855490 - TGGA indel 609.74 1/1 30 10 0 10 1.0 intronic rs531888345 DAAM2 AU NM_001201427 exon16 c.31290+122insTGGA Uncertain 6_39864730_C->T 6 39864730 39864730 C T snp 1027.77 0/1 99 125 79 46 0.37 exonic rs3008815 DAAM2 AU synonymous SNV NM_001201427 exon20 c.C2484T p.I828I 0.46246 0.3244 0.477863 0.5142 0.3676 Uncertain 6_39865047_T->C 6 39865047 39865047 T C snp 3380.77 1/1 99 126 0 126 1.0 exonic rs3004067 DAAM2 AU synonymous SNV NM_001201427 exon21 c.T2607C p.A869A 0.756589 0.8671 0.665402 0.6725 0.8781 Uncertain 6_39866769_C->T 6 39866769 39866769 C T snp 2798.77 0/1 99 237 105 132 0.56 intronic rs3736829 DAAM2 AU NM_001201427 exon22 c.42635+56C>T 0.0660942 0.2718 0.003504 Uncertain 6_39866805_-->ACAATGGGC 6 39866805 39866805 - ACAATGGGC indel 17717.7 1/1 99 176 0 176 1.0 intronic rs11281891 DAAM2 AU NM_001201427 exon22 c.42635+92insACAATGGGC 0.694289 0.8552 Uncertain 6_39868036_G->A 6 39868036 39868036 G A snp 468.77 0/1 99 35 18 17 0.49 intronic rs2295884 DAAM2 AU NM_001201427 exon23 c.43906+52G>A 0.0654952 0.2708 0.002827 Uncertain 6_39869066_G->C 6 39869066 39869066 G C snp 1361.77 0/1 99 125 64 61 0.49 intronic rs882559 DAAM2 AU NM_001201427 exon24 c.44999-11G>C 0.621406 0.5853 0.600574 0.5797 0.6025 Uncertain 6_39873595_-->CAGGA 6 39873595 39873595 - CAGGA indel 1155.73 0/1 99 51 19 32 0.63 UTR3 rs138907488 MOCS1 AR 0.0628994 0.2659 0.0209 0.2378 Uncertain 6_39877791_C->T 6 39877791 39877791 C T snp 1205.77 0/1 99 78 31 47 0.6 intronic rs76683125 MOCS1 AR NM_001075098 exon3 c.877+92C>T 0.0607029 0.2649 Uncertain 6_39881333_A->T 6 39881333 39881333 A T snp 236.77 0/1 99 19 11 8 0.42 intronic rs2146110 MOCS1 AR NM_001075098 exon6 c.4350+161A>T 0.0609026 0.2659 Uncertain 6_39895410_T->C 6 39895410 39895410 T C snp 1718.77 1/1 99 53 1 52 0.98 UTR5 rs3008822 MOCS1 AR 0.623403 0.8135 Uncertain 6_40360465_A->G 6 40360465 40360465 A G snp 6601.77 1/1 99 238 0 238 1.0 exonic rs3734557 LRFN2 AU synonymous SNV NM_020737 exon3 c.T1587C p.I529I 0.603035 0.5278 0.606874 0.5851 0.5540 Uncertain 6_40399446_T->C 6 40399446 40399446 T C snp 2888.77 1/1 99 95 0 95 1.0 intronic rs7775772 LRFN2 AU NM_020737 exon2 c.39771-6T>C 0.609824 0.6825 0.624327 0.5945 0.6733 Uncertain 6_40400868_C->T 6 40400868 40400868 C T snp 557.77 0/1 99 48 29 19 0.4 UTR5 rs9394693 LRFN2 AU 0.138978 0.2242 0.081934 0.1347 0.2397 Uncertain 6_40400877_G->A 6 40400877 40400877 G A snp 509.77 0/1 99 40 23 17 0.42 intronic rs28385630 LRFN2 AU NM_020737 exon2 c.41189+7G>A 0.108227 0.1558 0.059562 0.1073 0.1593 Uncertain 6_41010276_A->T 6 41010276 41010276 A T snp 83.28 1/1 9 3 0 3 1.0 UTR5 rs9369259 TSPO2 AU 0.991014 1 Uncertain 6_41052002_A->G 6 41052002 41052002 A G snp 1078.77 1/1 78 39 0 39 1.0 intronic rs6908595 NFYA AU NM_021705 exon3 c.5103+71A>G 0.999201 1 Uncertain 6_41057886_G->A 6 41057886 41057886 G A snp 807.77 0/1 99 59 25 34 0.58 intronic rs183085366 NFYA AU NM_021705 exon5 c.11114-56G>A 0.000599042 0.002 Uncertain 6_41162715_G->A 6 41162715 41162715 G A snp 269.8 1/1 21 8 0 8 1.0 intronic rs4711657 TREML2 AU NM_024807 exon3 c.2407+144G>A 0.362819 0.5813 Uncertain 6_41166310_G->A 6 41166310 41166310 G A snp 141.03 1/1 12 4 0 4 1.0 intronic rs34346157 TREML2 AU NM_024807 exon4 c.6003+143G>A 0.352037 0.499 Uncertain 6_41169021_-->A 6 41169021 41169021 - A indel 780.73 1/1 54 20 0 20 1.0 upstream rs5875743 TREML2 AU 0.852436 0.9137 Uncertain 6_41195903_A->G 6 41195903 41195903 A G snp 130.03 1/1 12 4 0 4 1.0 upstream rs1872241 TREML4 AU 0.690096 0.8383 Uncertain 6_41196034_T->C 6 41196034 41196034 T C snp 644.77 1/1 48 22 0 22 1.0 upstream rs6458202 TREML4 AU 0.690296 0.8383 Uncertain 6_41196040_T->C 6 41196040 41196040 T C snp 649.77 1/1 48 22 1 21 0.95 upstream rs6458203 TREML4 AU 0.689896 0.8383 Uncertain 6_41196041_C->T 6 41196041 41196041 C T snp 610.77 1/1 45 22 0 22 1.0 upstream rs6458204 TREML4 AU 0.689896 0.8383 Uncertain 6_41196095_C->T 6 41196095 41196095 C T snp 1071.77 1/1 78 39 0 39 1.0 UTR5 rs6458205 TREML4 AU 0.689097 0.8323 Uncertain 6_41196104_-->CTT 6 41196104 41196104 - CTT indel 2422.73 1/1 99 41 0 41 1.0 UTR5 rs10700462 TREML4 AU 0.884784 0.9484 0.842097 Uncertain 6_41196156_C->T 6 41196156 41196156 C T snp 1153.77 1/1 84 46 0 46 1.0 UTR5 rs2803496 TREML4 AU 0.890974 0.9494 0.865042 0.9115 0.9522 Uncertain 6_41196605_T->C 6 41196605 41196605 T C snp 4127.77 1/1 99 144 0 144 1.0 exonic rs9369265 TREML4 AU nonsynonymous SNV NM_198153 exon2 c.T217C p.W73R 0.690495 0.8383 0.688605 0.7738 0.8444 1 T 0.0 P -0.961 T 0.005 T 0.007 T Pathogenic 6_41196727_C->T 6 41196727 41196727 C T snp 4696.77 1/1 99 177 0 177 1.0 exonic rs2101269 TREML4 AU synonymous SNV NM_198153 exon2 c.C339T p.N113N 0.691294 0.8383 0.689605 0.7739 0.8443 Uncertain 6_41196888_A->C 6 41196888 41196888 A C snp 141.03 1/1 12 4 0 4 1.0 intronic rs2627557 TREML4 AU NM_198153 exon2 c.617+106A>C 0.882987 0.9494 Uncertain 6_41197785_T->C 6 41197785 41197785 T C snp 2998.77 1/1 99 109 0 109 1.0 intronic rs9296357 TREML4 AU NM_198153 exon4 c.1634-14T>C 0.690495 0.8383 0.688682 0.7737 0.8442 Uncertain 6_41197857_C->T 6 41197857 41197857 C T snp 2329.77 1/1 99 84 0 84 1.0 exonic rs7769759 TREML4 AU nonsynonymous SNV NM_198153 exon4 c.C503T p.T168I 0.690695 0.8393 0.688682 0.7737 0.8441 0.31 T 0.0 P -0.906 T 0.009 T 0.003 T Pathogenic 6_41197991_G->A 6 41197991 41197991 G A snp 174.9 1/1 15 5 0 5 1.0 intronic rs7774170 TREML4 AU NM_198153 exon4 c.1695+131G>A 0.690695 0.8383 Uncertain 6_41198909_T->C 6 41198909 41198909 T C snp 380.77 1/1 30 10 0 10 1.0 intronic rs4337930 TREML4 AU NM_198153 exon4 c.1695+1049T>C 0.692093 0.8383 0.7838 0.8538 Uncertain 6_41199885_A->G 6 41199885 41199885 A G snp 686.77 1/1 51 20 0 20 1.0 intronic rs1825411 TREML4 AU NM_198153 exon4 c.1695+2025A>G 0.685503 0.8413 Uncertain 6_41199973_C->T 6 41199973 41199973 C T snp 1665.77 0/1 99 119 51 68 0.57 intronic rs1825409 TREML4 AU NM_198153 exon4 c.1695+2113C>T 0.274561 0.3929 Uncertain 6_41200245_A->G 6 41200245 41200245 A G snp 748.77 0/1 99 59 26 33 0.56 intronic rs7746632 TREML4 AU NM_198153 exon4 c.1695+2385A>G 0.359026 0.4048 Uncertain 6_41200293_T->C 6 41200293 41200293 T C snp 230.77 0/1 99 14 6 8 0.57 intronic rs12526284 TREML4 AU NM_198153 exon4 c.1695+2433T>C 0.459465 0.5367 Uncertain 6_41204005_C->G 6 41204005 41204005 C G snp 89.77 0/1 99 22 18 4 0.18 intronic rs9394775 TREML4 AU NM_198153 exon5 c.8058-218C>G 0.342252 0.3869 Uncertain 6_41204049_C->T 6 41204049 41204049 C T snp 367.77 0/1 99 48 33 15 0.31 intronic rs9394776 TREML4 AU NM_198153 exon5 c.8058-174C>T 0.342252 0.3869 Uncertain 6_41204092_C->T 6 41204092 41204092 C T snp 433.77 0/1 99 67 47 20 0.3 intronic rs9349185 TREML4 AU NM_198153 exon5 c.8058-131C>T 0.342252 0.3869 Uncertain 6_41204094_C->G 6 41204094 41204094 C G snp 440.77 0/1 99 70 48 22 0.31 intronic rs9394777 TREML4 AU NM_198153 exon5 c.8058-129C>G 0.342252 0.3869 Uncertain 6_41204329_A->T 6 41204329 41204329 A T snp 1090.77 0/1 99 83 39 44 0.53 UTR3 rs9349186 TREML4 AU 0.342252 0.3869 0.337460 0.3400 0.3881 Uncertain 6_41244020_G->A 6 41244020 41244020 G A snp 351.77 0/1 99 25 11 14 0.56 intronic rs2234242 TREM1 AU NM_018643 exon1 c.106+52G>A 0.124401 0.2738 0.081546 0.1102 0.2504 Uncertain 6_41250466_T->A 6 41250466 41250466 T A snp 1604.77 0/1 99 163 93 70 0.43 exonic rs2234237 TREM1 AU nonsynonymous SNV NM_001242589 exon2 c.A73T p.T25S 0.163938 0.3165 0.104413 0.1294 0.3031 0.8 T 0.0 P -1.024 T 0.0 T 0.0 T Pathogenic 6_41250594_T->C 6 41250594 41250594 T C snp 321.77 0/1 99 30 18 12 0.4 intronic rs2234236 TREM1 AU NM_018643 exon3 c.6627+105T>C 0.164137 0.3165 Uncertain 6_41250609_T->C 6 41250609 41250609 T C snp 182.77 0/1 99 20 12 8 0.4 intronic rs12524876 TREM1 AU NM_018643 exon3 c.6627+120T>C 0.164137 0.3165 Uncertain 6_41303592_T->C 6 41303592 41303592 T C snp 5424.77 1/1 99 201 0 201 1.0 UTR5 rs9394782 NCR2 AU 0.660343 0.8631 0.596403 0.6795 0.8470 Uncertain 6_41303784_G->A 6 41303784 41303784 G A snp 1316.77 0/1 99 120 63 57 0.47 intronic rs9471575 NCR2 AU NM_001199509 exon2 c.210-40G>A 0.160743 0.3036 0.107335 0.1023 0.3254 Uncertain 6_41303805_G->A 6 41303805 41303805 G A snp 1559.77 0/1 99 137 67 70 0.51 intronic rs9471576 NCR2 AU NM_001199509 exon2 c.210-19G>A 0.160543 0.3036 0.107489 0.1029 0.3233 Uncertain 6_41303995_A->G 6 41303995 41303995 A G snp 1719.77 0/1 99 130 59 71 0.55 exonic rs9471577 NCR2 AU nonsynonymous SNV NM_001199509 exon2 c.A223G p.M75V 0.176318 0.3036 0.120022 0.1041 0.3246 0.36 T 0.0 P -1.054 T 0.0 T 0.0 T Pathogenic 6_41304241_C->T 6 41304241 41304241 C T snp 602.77 0/1 99 35 13 22 0.63 intronic rs9471578 NCR2 AU NM_001199509 exon2 c.552+75C>T 0.176318 0.3036 Uncertain 6_41309552_T->C 6 41309552 41309552 T C snp 320.77 0/1 99 39 25 14 0.36 exonic rs2236369 NCR2 AU nonsynonymous SNV NM_001199509 exon3 c.T415C p.S139P 0.489617 0.5764 0.475242 0.5771 0.5442 0.44 T 0.0 P -0.938 T 0.497 P 0.178 P Pathogenic 6_41309698_G->C 6 41309698 41309698 G C snp 783.77 0/1 99 73 44 29 0.4 intronic rs2236370 NCR2 AU NM_001199509 exon3 c.6053+31G>C 0.540535 0.5784 0.542750 0.6171 0.5453 Uncertain 6_41310870_A->G 6 41310870 41310870 A G snp 212.84 1/1 18 6 0 6 1.0 intronic rs7743304 NCR2 AU NM_001199509 exon5 c.7148+108A>G 0.821286 0.869 Uncertain 6_41318424_T->A 6 41318424 41318424 T A snp 392.77 0/1 99 45 29 16 0.36 exonic rs2273961 NCR2 AU nonsynonymous SNV NM_004828 exon5 c.T653A p.I218K 0.133387 0.2887 0.060972 0.0691 0.3047 1 T 0.0 P -0.951 T 0.0 T 0.0 T Pathogenic 6_41318438_A->G 6 41318438 41318438 A G snp 1585.77 1/1 99 57 0 57 1.0 exonic rs2273962 NCR2 AU nonsynonymous SNV NM_004828 exon5 c.A667G p.M223V 0.726837 0.8611 0.698216 0.7589 0.8487 1 T 0.0 P -0.912 T 0.0 T 0.001 T Pathogenic 6_41486990_G->A 6 41486990 41486990 G A snp 1447.77 1/1 99 51 0 51 1.0 ncRNA_intronic rs2496647 LINC01276 AU 0.438898 0.3661 Uncertain 6_41487302_A->G 6 41487302 41487302 A G snp 50.74 1/1 6 2 0 2 1.0 ncRNA_exonic rs2496648 LINC01276 AU 0.989816 1 Uncertain 6_41533579_C->A 6 41533579 41533579 C A snp 2897.77 1/1 99 110 0 110 1.0 exonic rs2104506 FOXP4 AU synonymous SNV NM_001012426 exon2 c.C81A p.A27A 0.387181 0.3393 0.332409 0.3219 0.3371 Uncertain 6_41537818_AC->- 6 41537818 41537819 AC - indel 221.75 1/1 24 8 0 8 1.0 intronic FOXP4 AU NM_001012427 exon2 c.204+4116_204+4117delAC Uncertain 6_41552429_G->A 6 41552429 41552429 G A snp 1800.77 1/1 99 67 0 67 1.0 intronic rs4714489 FOXP4 AU NM_001012427 exon4 c.19008-77G>A 0.327077 0.122 Uncertain 6_41552729_C->T 6 41552729 41552729 C T snp 347.78 1/1 27 10 0 10 1.0 intronic rs9367108 FOXP4 AU NM_001012427 exon4 c.19131+100C>T 0.071885 0.1022 Uncertain 6_41555862_G->A 6 41555862 41555862 G A snp 178.9 1/1 15 5 0 5 1.0 intronic rs4711677 FOXP4 AU NM_001012427 exon8 c.22137+227G>A 0.403554 0.3125 Uncertain 6_41562530_A->G 6 41562530 41562530 A G snp 3240.77 1/1 99 111 0 111 1.0 intronic rs9367109 FOXP4 AU NM_001012427 exon14 c.29109-77A>G 0.453075 0.3125 Uncertain 6_41565472_C->T 6 41565472 41565472 C T snp 1751.77 1/1 99 66 0 66 1.0 intronic rs1887079 FOXP4 AU NM_001012427 exon16 c.32020-46C>T 0.161542 0.1667 0.113947 0.1030 0.2082 Uncertain 6_41617308_C->T 6 41617308 41617308 C T snp 111.77 0/1 97 7 3 4 0.57 intronic rs2073160 MDFI AU NM_005586 exon4 c.10869-48C>T 0.434904 0.5556 0.375289 0.4082 0.5111 Uncertain 6_41617626_G->C 6 41617626 41617626 G C snp 1030.77 0/1 99 80 41 39 0.49 intronic rs2073159 MDFI AU NM_005586 exon4 c.11094+45G>C 0.398363 0.5565 0.330435 0.3993 0.5120 Uncertain 6_41617658_G->A 6 41617658 41617658 G A snp 433.77 0/1 99 44 26 18 0.41 intronic rs2281326 MDFI AU NM_005586 exon4 c.11094+77G>A 0.394569 0.5565 Uncertain 6_41620975_A->G 6 41620975 41620975 A G snp 1585.77 1/1 99 52 0 52 1.0 intronic rs2842657 MDFI AU NM_005586 exon5 c.14569-81A>G 0.911142 0.9494 Uncertain 6_41652514_C->T 6 41652514 41652514 C T snp 1924.77 0/1 99 174 85 89 0.51 exonic rs2073158 TFEB AU synonymous SNV NM_001271943 exon8 c.G999A p.A333A 0.197484 0.3194 0.158874 0.2041 0.3434 Uncertain 6_41652604_T->C 6 41652604 41652604 T C snp 1210.77 0/1 99 92 43 49 0.53 exonic rs1062966 TFEB AU synonymous SNV NM_001271943 exon8 c.A909G p.P303P 0.764177 0.7778 0.756197 0.7379 0.7728 Uncertain 6_41655005_G->A 6 41655005 41655005 G A snp 118.77 0/1 99 13 5 8 0.62 intronic rs2073157 TFEB AU NM_007162 exon3 c.2571+98G>A 0.719249 0.7778 Uncertain 6_41748263_C->T 6 41748263 41748263 C T snp 352.77 0/1 99 27 12 15 0.56 upstream rs28360509 FRS3 AU 0.152756 0.2589 Uncertain 6_41748279_A->G 6 41748279 41748279 A G snp 575.77 1/1 42 19 0 19 1.0 upstream rs10947986 FRS3 AU 0.979034 0.999 Uncertain 6_41753084_C->T 6 41753084 41753084 C T snp 1510.77 0/1 99 120 62 58 0.48 exonic rs9394831 PRICKLE4 AU synonymous SNV NM_013397 exon6 c.C388T p.L130L 0.16274 0.3016 0.188528 0.2064 0.2933 Uncertain 6_41754576_C->T 6 41754576 41754576 C T snp 2913.77 0/1 99 246 128 118 0.48 exonic rs9381093 PRICKLE4 AU synonymous SNV NM_013397 exon8 c.C864T p.L288L 0.561502 0.8304 0.2124 0.2957 Uncertain 6_41755410_C->G 6 41755410 41755410 C G snp 1273.77 0/1 99 125 69 56 0.45 UTR5 rs9471653 TOMM6 AU 0.163139 0.3016 0.196014 0.2017 0.3345 Uncertain 6_41766308_C->T 6 41766308 41766308 C T snp 955.77 0/1 99 55 18 37 0.67 UTR3 USP49 AU Uncertain 6_41773735_G->A 6 41773735 41773735 G A snp 2634.77 0/1 99 250 132 118 0.47 exonic rs6926173 USP49 AU synonymous SNV NM_001286554 exon2 c.C987T p.G329G 0.208666 0.1567 0.251807 0.2159 0.1810 Uncertain 6_41888827_C->G 6 41888827 41888827 C G snp 3075.77 1/1 99 117 2 115 0.98 UTR5 rs2274578 MED20 AU 0.482628 0.4603 0.543145 Uncertain 6_41895150_G->A 6 41895150 41895150 G A snp 1540.77 0/1 99 127 61 66 0.52 exonic rs2296916 BYSL AU nonsynonymous SNV NM_004053 exon2 c.G307A p.E103K 0.0758786 0.1478 0.077580 0.1079 0.1659 0.02 T 1.000 P -1.016 T 0.856 T 0.161 P Pathogenic 6_41898096_A->G 6 41898096 41898096 A G snp 185.9 1/1 15 6 0 6 1.0 intronic rs2479726 BYSL AU NM_004053 exon3 c.8708+88A>G 0.786542 0.7569 Uncertain 6_41898564_C->T 6 41898564 41898564 C T snp 194.77 0/1 99 14 7 7 0.5 intronic rs12661819 BYSL AU NM_004053 exon4 c.9206+58C>T 0.230631 0.1548 Uncertain 6_41900406_C->T 6 41900406 41900406 C T snp 1714.77 0/1 99 126 58 68 0.54 exonic rs3828855 BYSL AU nonsynonymous SNV NM_004053 exon7 c.C1276T p.P426S 0.0954473 0.1478 0.099954 0.1149 0.1655 1 T 0.147 P -0.923 T 0.001 T 0.006 T Pathogenic 6_41903782_A->C 6 41903782 41903782 A C snp 2304.77 1/1 99 82 0 82 1.0 exonic rs1051130 CCND3 AU nonsynonymous SNV NM_001136125 exon4 c.T559G p.S187A 0.592452 0.504 0.624327 0.5443 0.5300 0.04 T 0.0 P -0.932 T 0.0 T 0.001 T Pathogenic 6_41904544_A->G 6 41904544 41904544 A G snp 343.77 0/1 99 46 30 16 0.35 intronic rs116928763 CCND3 AU NM_001136126 exon2 c.756+111A>G 0.0119808 0.0575 Uncertain 6_41905174_T->A 6 41905174 41905174 T A snp 1117.77 1/1 81 37 0 37 1.0 intronic rs2479717 CCND3 AU NM_001136126 exon3 c.1455+42T>A 0.863618 0.8978 0.800092 0.7846 0.9084 Uncertain 6_42016065_A->G 6 42016065 42016065 A G snp 77.77 0/1 67 5 2 3 0.6 intronic rs9394856 CCND3 AU NM_001136126 exon4 c.112561-173A>G 0.110024 0.2232 Uncertain 6_42023099_G->A 6 42023099 42023099 G A snp 349.78 1/1 27 9 0 9 1.0 intronic rs4523084 TAF8 AU NM_138572 exon3 c.4989-169G>A 0.977037 1 Uncertain 6_42025058_G->A 6 42025058 42025058 G A snp 345.78 1/1 27 11 0 11 1.0 intronic rs6917299 TAF8 AU NM_138572 exon5 c.6847-68G>A 0.367812 0.3284 Uncertain 6_42025402_A->G 6 42025402 42025402 A G snp 398.77 1/1 30 13 0 13 1.0 intronic rs1134218 TAF8 AU NM_138572 exon5 c.6972+151A>G 0.365016 0.3403 Uncertain 6_42034409_T->C 6 42034409 42034409 T C snp 44.74 1/1 6 2 0 2 1.0 intronic rs2492918 TAF8 AU NM_138572 exon6 c.15918+212T>C 0.728435 0.8175 Uncertain 6_42036395_A->C 6 42036395 42036395 A C snp 675.77 1/1 51 24 0 24 1.0 intronic rs2492926 TAF8 AU NM_138572 exon7 c.18066+50A>C 0.744409 0.8185 0.762486 0.7394 0.8277 Uncertain 6_42044945_G->A 6 42044945 42044945 G A snp 4959.77 1/1 99 179 1 178 0.99 exonic rs3800286 TAF8 AU synonymous SNV NM_138572 exon8 c.G888A p.R296R 0.67492 0.8988 0.645058 0.7246 0.9075 0 D 1.000 P -1.008 T 0.0 T 0.003 T Likely benign 6_42072989_G->A 6 42072989 42072989 G A snp 2680.77 0/1 99 250 133 117 0.47 exonic rs9394863 C6orf132 AU synonymous SNV NM_001164446 exon4 c.C2661T p.G887G 0.217053 0.2232 0.122427 0.1644 0.1794 Uncertain 6_42073958_C->T 6 42073958 42073958 C T snp 1647.77 0/1 99 130 62 68 0.52 exonic rs9394865 C6orf132 AU synonymous SNV NM_001164446 exon4 c.G1692A p.R564R 0.218051 0.2232 0.1658 0.1766 Uncertain 6_42074106_A->G 6 42074106 42074106 A G snp 1019.77 0/1 99 94 51 43 0.46 exonic rs9394866 C6orf132 AU nonsynonymous SNV NM_001164446 exon4 c.T1544C p.L515P 0.535543 0.3065 0.4907 0.2993 1 T 0.0 P -0.967 T Pathogenic 6_42075069_A->G 6 42075069 42075069 A G snp 198.77 0/1 57 9 3 6 0.67 exonic rs55772414 C6orf132 AU nonsynonymous SNV NM_001164446 exon4 c.T581C p.L194S 0.203075 0.2212 0.1577 0.1875 0.83 T 0.0 P -0.999 T Pathogenic 6_42075377_A->C 6 42075377 42075377 A C snp 513.77 0/1 99 54 31 23 0.43 intronic rs9394868 C6orf132 AU NM_001164446 exon2 c.3823+56A>C 0.271166 0.2242 Uncertain 6_42077870_A->G 6 42077870 42077870 A G snp 121.77 0/1 99 9 4 5 0.56 intronic rs9471765 C6orf132 AU NM_001164446 exon3 c.6455-83A>G 0.39357 0.2361 Uncertain 6_42094614_A->G 6 42094614 42094614 A G snp 443.77 0/1 99 40 19 21 0.53 intronic rs9471776 C6orf132 AU NM_001164446 exon4 c.24911-1795A>G 0.448882 0.2827 0.3043 0.26 Uncertain 6_42094699_G->T 6 42094699 42094699 G T snp 1052.77 1/1 75 42 0 42 1.0 intronic rs6940849 C6orf132 AU NM_001164446 exon4 c.24911-1710G>T 0.986022 1 Uncertain 6_42110263_T->C 6 42110263 42110263 T C snp 425.77 1/1 33 12 0 12 1.0 UTR5 rs6911399 C6orf132 AU 1 1 Uncertain 6_42123317_A->C 6 42123317 42123317 A C snp 3572.77 1/1 99 135 0 135 1.0 UTR5 rs1132156 GUCA1A AD 0.667732 0.8641 0.6910 0.8388 0 D 0.000 P -1.007 T Uncertain 6_42153609_C->T 6 42153609 42153609 C T snp 3032.77 1/1 99 111 0 111 1.0 intronic rs9471799 GUCA1B AU NM_002098 exon2 c.983+74C>T 0.888778 0.9286 Uncertain 6_42162388_A->G 6 42162388 42162388 A G snp 3726.77 1/1 99 136 1 135 0.99 exonic rs3749921 GUCA1B AU synonymous SNV NM_002098 exon1 c.T171C p.Y57Y 0.584864 0.8204 0.513840 0.6375 0.8502 Uncertain 6_42162575_A->G 6 42162575 42162575 A G snp 971.77 1/1 72 26 0 26 1.0 UTR5 rs1474867 GUCA1B AU 0.878994 0.9077 0.860530 0.8504 0.9180 Uncertain 6_42176120_G->T 6 42176120 42176120 G T snp 1642.77 1/1 99 68 0 68 1.0 intronic rs2295278 MRPS10 AU NM_018141 exon1 c.84+10G>T 0.579473 0.7937 0.513763 0.6362 0.8289 Uncertain 6_42176451_G->A 6 42176451 42176451 G A snp 1115.77 1/1 81 36 0 36 1.0 intronic rs6936290 MRPS10 AU NM_018141 exon2 c.569-144G>A 0.877995 0.9077 Uncertain 6_42176744_G->- 6 42176744 42176744 G - indel 289.74 1/1 27 10 0 10 1.0 intronic rs57369579 MRPS10 AU NM_018141 exon2 c.659+59delG 0.814497 0.8998 Uncertain 6_42176749_T->C 6 42176749 42176749 T C snp 265.8 1/1 21 9 0 9 1.0 intronic rs55788550 MRPS10 AU NM_018141 exon2 c.659+64T>C 0.582668 0.7937 Uncertain 6_42178578_C->G 6 42178578 42178578 C G snp 96.28 1/1 9 3 0 3 1.0 intronic rs2295277 MRPS10 AU NM_018141 exon3 c.2308+244C>G 0.582468 0.7937 Uncertain 6_42179831_T->A 6 42179831 42179831 T A snp 141.03 1/1 12 4 0 4 1.0 intronic rs7769611 MRPS10 AU NM_018141 exon4 c.3629+176T>A 0.803714 0.9067 Uncertain 6_42181773_G->A 6 42181773 42181773 G A snp 48.74 1/1 6 2 0 2 1.0 intronic rs2273283 MRPS10 AU NM_018141 exon5 c.5831-84G>A 0.582468 0.7937 Uncertain 6_42181960_A->C 6 42181960 42181960 A C snp 2862.77 1/1 99 104 1 103 0.99 intronic rs1884318 MRPS10 AU NM_018141 exon5 c.5904+30A>C 0.579473 0.7937 0.514070 0.6362 0.8289 Uncertain 6_42182183_C->T 6 42182183 42182183 C T snp 412.77 1/1 33 11 0 11 1.0 intronic rs1884317 MRPS10 AU NM_018141 exon6 c.6056+101C>T 0.796526 0.9067 Uncertain 6_42237424_A->G 6 42237424 42237424 A G snp 304.77 0/1 99 23 9 14 0.61 UTR5 TRERF1 AU Uncertain 6_42583625_G->A 6 42583625 42583625 G A snp 2897.77 1/1 99 96 0 96 1.0 intronic rs9381203 UBR2 AU NM_015255 exon10 c.51682-114G>A 0.256789 0.4583 Uncertain 6_42600319_A->G 6 42600319 42600319 A G snp 1504.77 1/1 99 54 0 54 1.0 exonic rs5014584 UBR2 AU synonymous SNV NM_015255 exon12 c.A1311G p.L437L 0.937899 1 0.930406 0.9171 0.9982 Uncertain 6_42608187_T->C 6 42608187 42608187 T C snp 99.28 1/1 9 3 0 3 1.0 intronic rs4521584 UBR2 AU NM_015255 exon16 c.75951+179T>C 0.258187 0.4623 Uncertain 6_42612312_C->T 6 42612312 42612312 C T snp 753.77 1/1 57 22 0 22 1.0 intronic rs7767888 UBR2 AU NM_015255 exon20 c.80217+38C>T 0.926518 1 0.913395 0.9052 0.9981 Uncertain 6_42617961_T->G 6 42617961 42617961 T G snp 2541.77 1/1 99 83 0 83 1.0 intronic rs3763234 UBR2 AU NM_015255 exon23 c.85964-60T>G 0.257788 0.4613 Uncertain 6_42626564_-->A 6 42626564 42626564 - A indel 63.79 0/1 19 48 5 43 0.9 splicing rs35416750 UBR2 AU NM_015255 exon29 c.94505+2insA 0.0491 0.0554 Pathogenic 6_42627264_C->T 6 42627264 42627264 C T snp 80.28 1/1 9 3 0 3 1.0 intronic rs201025004 UBR2 AU NM_015255 exon30 c.95336-129C>T Uncertain 6_42630107_A->G 6 42630107 42630107 A G snp 1483.77 1/1 99 45 0 45 1.0 intronic rs3736745 UBR2 AU NM_015255 exon31 c.97958+92A>G 0.25639 0.4603 Uncertain 6_42641704_G->A 6 42641704 42641704 G A snp 349.78 1/1 27 9 0 9 1.0 intronic rs761537 UBR2 AU NM_015255 exon37 c.109568+79G>A 0.722444 0.9087 Uncertain 6_42641779_A->C 6 42641779 42641779 A C snp 267.77 0/1 99 16 6 10 0.63 intronic rs141727741 UBR2 AU NM_015255 exon38 c.109806-84A>C 0.00119808 0.006 Uncertain 6_42644062_A->G 6 42644062 42644062 A G snp 262.8 1/1 21 7 0 7 1.0 intronic rs2144083 UBR2 AU NM_015255 exon39 c.111872+133A>G 0.934505 1 Uncertain 6_42646518_T->A 6 42646518 42646518 T A snp 358.77 1/1 30 12 0 12 1.0 intronic rs2295153 UBR2 AU NM_015255 exon41 c.114350+111T>A 0.941494 1 Uncertain 6_42650766_-->T 6 42650766 42650766 - T indel 996.73 1/1 87 29 0 29 1.0 intronic rs34240626 UBR2 AU NM_015255 exon43 c.118735-26insT 0.754992 0.8631 0.849840 0.7823 0.8779 Uncertain 6_42652667_G->A 6 42652667 42652667 G A snp 3061.77 1/1 99 119 0 119 1.0 intronic rs434505 UBR2 AU NM_015255 exon44 c.120552+58G>A 0.734026 0.8542 0.753614 Uncertain 6_42666061_T->C 6 42666061 42666061 T C snp 2619.77 1/1 99 85 0 85 1.0 exonic rs434102 PRPH2 AR,AD nonsynonymous SNV NM_000322 exon3 c.A1013G p.D338G 0.757388 0.8462 0.776795 0.7790 0.8602 0.21 T 0.618 P -0.884 T CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000153779.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 ID=CM130718;DIS=Retinitis pigmentosa;TAG=DM?;PUB=23105016 DM? Pathogenic 6_42666145_C->T 6 42666145 42666145 C T snp 6300.77 1/1 99 238 0 238 1.0 exonic rs425876 PRPH2 AR,AD nonsynonymous SNV NM_000322 exon3 c.G929A p.R310K 0.941294 1 0.930724 0.9117 0.9982 1 T 0.000 P -0.965 T CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_provided|not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter|criteria_provided\x2c_single_submitter;CLNACC=RCV000127755.1|RCV000153780.2;CLNDSDB=MedGen|MedGen;CLNDSDBID=CN221809|CN169374 Pathogenic 6_42666164_G->C 6 42666164 42666164 G C snp 7066.77 1/1 99 250 0 250 1.0 exonic rs390659 PRPH2 AR,AD nonsynonymous SNV NM_000322 exon3 c.C910G p.Q304E 0.756589 0.8452 0.776795 0.7774 0.8585 1 T 0.002 P -1.001 T CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_provided|not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter|criteria_provided\x2c_single_submitter;CLNACC=RCV000127754.1|RCV000153781.2;CLNDSDB=MedGen|MedGen;CLNDSDBID=CN221809|CN169374 Pathogenic 6_42666365_G->C 6 42666365 42666365 G C snp 1723.77 1/1 99 46 0 46 1.0 intronic rs389999 PRPH2 AR,AD NM_000322 exon1 c.213+120G>C 0.757388 0.8462 Uncertain 6_42672407_T->C 6 42672407 42672407 T C snp 3245.77 1/1 99 105 0 105 1.0 intronic rs3818087 PRPH2 AR,AD NM_000322 exon2 c.6317+58T>C 0.266973 0.4673 Uncertain 6_42672416_A->T 6 42672416 42672416 A T snp 2776.77 1/1 99 95 0 95 1.0 intronic rs3818086 PRPH2 AR,AD NM_000322 exon2 c.6317+67A>T 0.567492 0.5565 Uncertain 6_42672434_C->T 6 42672434 42672434 C T snp 2242.77 1/1 99 68 0 68 1.0 intronic rs34722725 PRPH2 AR,AD NM_000322 exon2 c.6317+85C>T 0.273962 0.4673 Uncertain 6_42689411_G->A 6 42689411 42689411 G A snp 1326.77 1/1 99 42 0 42 1.0 intronic rs6928781 PRPH2 AR,AD NM_000322 exon3 c.23459-80G>A 0.33147 0.4732 Uncertain 6_42689755_A->G 6 42689755 42689755 A G snp 7567.77 1/1 99 250 0 250 1.0 exonic rs7764439 PRPH2 AR,AD synonymous SNV NM_000322 exon1 c.T318C p.V106V 0.584465 0.5595 0.606797 0.5775 0.5822 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter|criteria_provided\x2c_single_submitter;CLNACC=RCV000078642.3|RCV000127753.1;CLNDSDB=MedGen|MedGen;CLNDSDBID=CN169374|CN221809 Uncertain 6_42713618_A->G 6 42713618 42713618 A G snp 7457.77 1/1 99 249 0 249 1.0 exonic rs2234026 TBCC AU nonsynonymous SNV NM_003192 exon1 c.T194C p.V65A 0.996406 1 0.990389 0.9889 1 0.82 T 0.000 P -0.924 T 0.0 T 0.0 T Pathogenic 6_42853842_A->G 6 42853842 42853842 A G snp 995.77 1/1 72 34 0 34 1.0 intronic rs2179719 RPL7L1 AU NM_198486 exon5 c.6146+21A>G 0.998802 1 0.996540 0.9964 1 Uncertain 6_42975644_T->C 6 42975644 42975644 T C snp 747.77 0/1 99 51 22 29 0.57 intronic rs9462864 PPP2R5D AD NM_180976 exon7 c.23257-28T>C 0.283347 0.1865 0.231662 0.1637 0.2426 Uncertain 6_42976232_T->G 6 42976232 42976232 T G snp 1227.77 0/1 99 76 33 43 0.57 intronic rs6458318 PPP2R5D AD NM_180976 exon9 c.23798+19T>G 0.316094 0.2123 0.273643 0.1965 0.2635 Uncertain 6_42976552_T->C 6 42976552 42976552 T C snp 299.77 0/1 99 28 17 11 0.39 intronic rs6458319 PPP2R5D AD NM_180976 exon10 c.24069+68T>C 0.141573 0.1528 0.084319 Uncertain 6_42977273_A->C 6 42977273 42977273 A C snp 131.77 0/1 99 16 11 5 0.31 intronic rs41274900 PPP2R5D AD NM_180976 exon12 c.24772+86A>C 0.141374 0.1528 Uncertain 6_42978326_G->A 6 42978326 42978326 G A snp 2611.77 0/1 99 250 146 104 0.42 intronic rs2236356 PPP2R5D AD NM_180976 exon13 c.25892+19G>A 0.34365 0.2123 0.299323 0.2039 0.2620 Uncertain 6_42980458_C->T 6 42980458 42980458 C T snp 696.77 0/1 99 81 50 31 0.38 intronic rs60622781 MEA1 AU NM_014623 exon1 c.152+99C>T 0.172724 0.1776 Uncertain 6_42985973_T->C 6 42985973 42985973 T C snp 2686.77 0/1 99 243 122 121 0.5 intronic rs6926418 KLHDC3 AU NM_057161 exon5 c.1024+19T>C 0.328474 0.2123 0.284407 0.1994 0.2643 Uncertain 6_42986363_C->T 6 42986363 42986363 C T snp 2131.77 0/1 99 154 71 83 0.54 intronic rs6904371 KLHDC3 AU NM_057161 exon7 c.1440-7C>T 0.288339 0.1875 0.243272 0.1720 0.2435 Uncertain 6_42989057_T->C 6 42989057 42989057 T C snp 630.77 1/1 48 17 0 17 1.0 upstream;downstream rs9296409 RRP36;KLHDC3 UN 0.96246 0.998 Uncertain 6_42989414_GCCGGG->- 6 42989414 42989419 GCCGGG - indel 1916.73 ./1 99 39 0 39 1.0 exonic rs200886831 RRP36 AU nonframeshift deletion NM_033112 exon1 c.22_27del p.8_9del 0.0489 0.0836 ID=COSM243398;OCCURENCE=1(central_nervous_system),1(NS),1(prostate) Uncertain 6_42989413_-->GCCGGG 6 42989413 42989413 - GCCGGG indel 1916.73 ./1 99 39 0 39 1.0 exonic rs756658144 RRP36 AU nonframeshift insertion NM_033112 exon1 c.21_22insGCCGGG p.R7delinsRAG 0.0001 0 Uncertain 6_42992808_T->C 6 42992808 42992808 T C snp 2071.77 0/1 99 237 146 91 0.38 exonic rs3749904 RRP36 AU synonymous SNV NM_033112 exon2 c.T216C p.N72N 0.344249 0.2123 0.299862 0.2038 0.2631 Uncertain 6_42992825_C->G 6 42992825 42992825 C G snp 2306.77 0/1 99 248 147 101 0.41 exonic rs3749903 RRP36 AU nonsynonymous SNV NM_033112 exon2 c.C233G p.A78G 0.34365 0.2123 0.299862 0.2036 0.2637 0.44 T 0.0 P -1.056 T 0.0 T 0.0 T Pathogenic 6_42995211_A->G 6 42995211 42995211 A G snp 386.77 0/1 99 25 10 15 0.6 exonic rs1138141 RRP36 AU synonymous SNV NM_033112 exon6 c.A639G p.K213K 0.3127 0.2123 0.269414 0.1960 0.2648 Uncertain 6_43008298_C->T 6 43008298 43008298 C T snp 1666.77 0/1 99 143 68 75 0.52 exonic rs2273917 CUL7 AR synonymous SNV NM_014780 exon21 c.G3993A p.L1331L 0.32508 0.2202 0.282639 0.2018 0.2674 Uncertain 6_43013662_T->C 6 43013662 43013662 T C snp 1108.77 0/1 99 93 52 41 0.44 intronic rs2273918 CUL7 AR NM_001168370 exon14 c.8298-61T>C 0.19369 0.1845 Uncertain 6_43014298_T->C 6 43014298 43014298 T C snp 4472.77 1/1 99 156 0 156 1.0 exonic rs9394939 CUL7 AR synonymous SNV NM_014780 exon11 c.A2439G p.Q813Q 0.990216 1 0.976857 0.9766 0.9997 Uncertain 6_43014299_T->C 6 43014299 43014299 T C snp 4407.77 1/1 99 158 0 158 1.0 exonic rs9381231 CUL7 AR nonsynonymous SNV NM_014780 exon11 c.A2438G p.Q813R 0.990216 1 0.976857 0.9766 0.9997 1 T 1.000 P -1.003 T 0.0 T 0.001 T Pathogenic 6_43019666_C->T 6 43019666 43019666 C T snp 31.77 0/1 60 6 4 2 0.33 intronic rs41274916 CUL7 AR NM_001168370 exon24 c.14076+165C>T 0.292133 0.2054 Uncertain 6_43020188_G->A 6 43020188 43020188 G A snp 1389.77 0/1 99 125 69 56 0.45 exonic rs4711738 CUL7 AR synonymous SNV NM_014780 exon2 c.C339T p.D113D 0.282149 0.2054 0.224742 0.1640 0.2525 Uncertain 6_43021519_G->A 6 43021519 43021519 G A snp 712.77 0/1 99 46 12 34 0.74 UTR5 rs3737186 CUL7 AR 0.131989 0.1657 0.0882 0.1742 Uncertain 6_43021943_C->T 6 43021943 43021943 C T snp 44.77 0/1 33 3 1 2 0.67 UTR3 rs58470539 MRPL2 AU 0.228435 0.1825 Uncertain 6_43021976_-->G 6 43021976 43021976 - G indel 91.73 0/1 99 17 9 8 0.47 UTR3 rs758283961 MRPL2 AU 0.0476 0.0570 Uncertain 6_43023096_C->T 6 43023096 43023096 C T snp 31.77 0/1 60 6 4 2 0.33 intronic rs9471998 MRPL2 AU NM_015950 exon2 c.1271-186C>T 0.288738 0.2054 Uncertain 6_43023371_T->C 6 43023371 43023371 T C snp 1266.77 0/1 99 145 90 55 0.38 intronic rs9471999 MRPL2 AU NM_015950 exon2 c.1345+15T>C 0.288938 0.2054 0.233200 0.1674 0.2530 Uncertain 6_43026814_A->G 6 43026814 43026814 A G snp 1284.77 0/1 99 96 43 53 0.55 intronic rs2050367 MRPL2 AU NM_015950 exon7 c.5012-209A>G 0.28754 0.2044 Uncertain 6_43034850_C->T 6 43034850 43034850 C T snp 673.77 0/1 99 48 20 28 0.58 exonic rs4714660 KLC4 AU nonsynonymous SNV NM_138343 exon6 c.C908T p.T303M 0.146565 0.1647 0.091727 0.1063 0.2126 0.0 P -1.075 T 0.034 T 0.003 T Pathogenic 6_43038652_A->G 6 43038652 43038652 A G snp 60.77 0/1 89 7 4 3 0.43 intronic rs9462866 KLC4 AU NM_001289035 exon7 c.9530+49A>G 0.307109 0.2262 0.207436 0.3394 0.3364 Uncertain 6_43038939_A->- 6 43038939 43038939 A - indel 132.73 0/1 99 45 21 24 0.53 intronic rs540602192 KLC4 AU NM_001289035 exon8 c.9939-73delA 0.403754 0.4256 Uncertain 6_43040126_A->G 6 43040126 43040126 A G snp 42.78 0/1 27 3 1 2 0.67 intronic rs9472003 KLC4 AU NM_001289035 exon11 c.10920+133A>G 0.147165 0.1647 Uncertain 6_43107323_C->T 6 43107323 43107323 C T snp 40.77 0/1 33 3 1 2 0.67 intronic PTK7 AU NM_152882 exon10 c.63037+60C>T Uncertain 6_43110055_T->G 6 43110055 43110055 T G snp 3457.77 0/1 99 250 132 118 0.47 intronic rs6933124 PTK7 AU NM_002821 exon13 c.65811+18T>G 0.275559 0.3373 0.206828 0.1835 0.3888 Uncertain 6_43111445_T->C 6 43111445 43111445 T C snp 46.77 0/1 33 3 1 2 0.67 intronic rs3737185 PTK7 AU NM_152882 exon13 c.67132+87T>C 0.632588 0.4365 Uncertain 6_43112412_A->G 6 43112412 43112412 A G snp 1410.77 0/1 99 93 44 49 0.53 intronic rs72664263 PTK7 AU NM_152882 exon14 c.68118+68A>G 0.204073 0.3323 Uncertain 6_43114211_-->T 6 43114211 43114211 - T indel 247.77 1/1 21 7 0 7 1.0 intronic rs397808654 PTK7 AU NM_152882 exon16 c.70129-144insT 0.979832 1 Uncertain 6_43128434_A->G 6 43128434 43128434 A G snp 1060.77 0/1 99 117 72 45 0.38 intronic rs61021888 PTK7 AU NM_152882 exon19 c.84232-24A>G 0.27496 0.3522 0.206213 0.1870 0.3968 Uncertain 6_43152573_A->G 6 43152573 43152573 A G snp 1927.77 0/1 99 163 81 82 0.5 exonic rs9472022 CUL9 AU synonymous SNV NM_015089 exon2 c.A525G p.L175L 0.353035 0.375 0.291295 0.2259 0.3923 Uncertain 6_43152723_C->T 6 43152723 43152723 C T snp 434.77 0/1 99 45 25 20 0.44 intronic rs41274930 CUL9 AU NM_015089 exon2 c.595+80C>T 0.205272 0.37 Uncertain 6_43154091_C->G 6 43154091 43154091 C G snp 4898.77 1/1 99 161 0 161 1.0 exonic rs941849 CUL9 AU synonymous SNV NM_015089 exon4 c.C1149G p.L383L 1 1 0.999385 0.9991 1 Uncertain 6_43182657_G->A 6 43182657 43182657 G A snp 625.77 1/1 48 21 0 21 1.0 intronic rs1214714 CUL9 AU NM_015089 exon30 c.30768-159G>A 0.995607 1 Uncertain 6_43184132_A->C 6 43184132 43184132 A C snp 2245.77 0/1 99 204 110 94 0.46 exonic rs2273709 CUL9 AU nonsynonymous SNV NM_015089 exon31 c.A6173C p.H2058P 0.399361 0.4226 0.362833 0.2609 0.4143 1 T 0.000 P -0.933 T 0.0 T 0.0 T Pathogenic 6_43188716_A->T 6 43188716 43188716 A T snp 1078.77 0/1 99 93 44 49 0.53 intronic rs2756178 CUL9 AU NM_015089 exon33 c.36601+67A>T 0.618211 0.4812 Uncertain 6_43221264_T->C 6 43221264 43221264 T C snp 185.77 0/1 99 28 21 7 0.25 intronic rs12664472 TTBK1 AU NM_032538 exon5 c.6907-41T>C 0.271166 0.3581 0.233969 0.2277 0.3543 Uncertain 6_43222527_T->- 6 43222527 43222527 T - indel 1305.73 0/1 99 52 19 33 0.63 intronic rs11318521 TTBK1 AU NM_032538 exon6 c.7991+138delT 0.278155 0.3581 Uncertain 6_43225408_G->A 6 43225408 43225408 G A snp 223.77 0/1 99 11 4 7 0.64 intronic rs7769668 TTBK1 AU NM_032538 exon10 c.11151-141G>A 0.280751 0.3601 Uncertain 6_43225791_T->C 6 43225791 43225791 T C snp 71.77 0/1 99 9 6 3 0.33 intronic rs7752120 TTBK1 AU NM_032538 exon10 c.11306+87T>C 0.283147 0.3601 Uncertain 6_43230970_G->C 6 43230970 43230970 G C snp 227.77 0/1 99 65 50 15 0.23 exonic rs3800294 TTBK1 AU nonsynonymous SNV NM_032538 exon13 c.G1868C p.G623A 0.335064 0.3631 0.315211 0.4053 0.4326 1 T 0.611 P -0.988 T 0.0 T 0.0 T Pathogenic 6_43231163_T->C 6 43231163 43231163 T C snp 263.77 0/1 99 24 12 12 0.5 intronic rs10948069 TTBK1 AU NM_032538 exon13 c.16690+75T>C 0.345847 0.3631 Uncertain 6_43250387_G->C 6 43250387 43250387 G C snp 1376.77 0/1 99 90 36 54 0.6 intronic rs6936397 TTBK1 AU NM_032538 exon14 c.36066-77G>C 0.385583 0.2827 Uncertain 6_43251912_A->G 6 43251912 43251912 A G snp 403.77 0/1 99 38 22 16 0.42 exonic rs3800297 TTBK1 AU nonsynonymous SNV NM_032538 exon14 c.A3434G p.K1145R 0.354233 0.3849 0.243221 0.3369 0.4628 0.02 T 1.000 P -1.057 T 0.01 T 0.007 T Pathogenic 6_43252029_T->C 6 43252029 43252029 T C snp 519.77 0/1 99 62 37 25 0.4 exonic rs3800298 TTBK1 AU nonsynonymous SNV NM_032538 exon14 c.T3551C p.L1184S 0.364816 0.3849 0.271604 0.2714 0.3392 0.77 T 0.000 P -0.981 T 0.0 T 0.0 T Pathogenic 6_43269029_A->C 6 43269029 43269029 A C snp 363.77 0/1 99 42 25 17 0.4 intronic rs1574430 SLC22A7 AU NM_006672 exon5 c.2900+33A>C 0.420327 0.625 0.430801 0.5406 0.6901 Uncertain 6_43269179_C->A 6 43269179 43269179 C A snp 414.77 0/1 99 28 12 16 0.57 intronic rs2841648 SLC22A7 AU NM_006672 exon6 c.3224-141C>A 0.420327 0.625 Uncertain 6_43269180_C->A 6 43269180 43269180 C A snp 414.77 0/1 99 28 12 16 0.57 intronic rs56401710 SLC22A7 AU NM_006672 exon6 c.3224-140C>A 0.420327 0.625 Uncertain 6_43270097_T->C 6 43270097 43270097 T C snp 1380.77 1/1 99 47 0 47 1.0 exonic rs2651184 SLC22A7 AU synonymous SNV NM_006672 exon7 c.T1215C p.A405A 0.976038 1 0.978010 0.9938 1 Uncertain 6_43270151_C->T 6 43270151 43270151 C T snp 280.77 0/1 99 18 6 12 0.67 exonic rs2270860 SLC22A7 AU synonymous SNV NM_006672 exon7 c.C1269T p.S423S 0.463059 0.369 0.428527 0.4493 0.3923 Uncertain 6_43270326_A->G 6 43270326 43270326 A G snp 257.8 1/1 21 10 0 10 1.0 intronic rs2841646 SLC22A7 AU NM_006672 exon8 c.4296-66A>G 0.976038 1 Uncertain 6_43273604_A->G 6 43273604 43273604 A G snp 1609.77 0/1 99 134 65 69 0.51 exonic rs2242416 CRIP3 AU nonsynonymous SNV NM_206922 exon8 c.T563C p.I188T 0.416933 0.621 0.441911 0.5337 0.6822 0.61 T 1.0 P -0.412 T 0.093 T 0.047 T Pathogenic 6_43276388_G->C 6 43276388 43276388 G C snp 1424.77 0/1 99 119 62 57 0.48 intronic rs12193537 CRIP3 AU NM_206922 exon8 c.2936-99G>C 0.287939 0.3224 Uncertain 6_43276390_G->A 6 43276390 43276390 G A snp 1533.77 0/1 99 120 56 64 0.53 intronic rs2254303 CRIP3 AU NM_206922 exon8 c.2936-97G>A 0.432907 0.63 Uncertain 6_43299719_A->C 6 43299719 43299719 A C snp 510.77 0/1 99 36 18 18 0.5 intergenic rs2279088 CRIP3 AU 0.280152 0.3175 Uncertain 6_43306346_A->G 6 43306346 43306346 A G snp 7527.77 1/1 99 250 0 250 1.0 exonic rs1459675 ZNF318 AU nonsynonymous SNV NM_014345 exon10 c.T5390C p.V1797A 0.976038 1 0.978010 0.9938 1 0.51 T 0.000 P -0.949 T 0.0 T 0.0 T Pathogenic 6_43308363_C->T 6 43308363 43308363 C T snp 142.77 0/1 99 13 7 6 0.46 intronic rs1563788 ZNF318 AU NM_014345 exon1 c.3345+123C>T 0.459465 0.37 Uncertain 6_43336771_C->T 6 43336771 43336771 C T snp 1737.77 1/1 99 67 0 67 1.0 exonic rs9381238 ZNF318 AU synonymous SNV NM_014345 exon1 c.G333A p.R111R 0.975839 1 0.989861 0.9988 1 Uncertain 6_43399837_A->G 6 43399837 43399837 A G snp 2999.77 1/1 99 102 0 102 1.0 UTR5 rs700008 ABCC10 AU 0.884385 0.9484 0.882054 0.8810 0.9459 Uncertain 6_43401105_G->A 6 43401105 43401105 G A snp 1303.77 0/1 99 99 43 56 0.57 intronic rs9394952 ABCC10 AU NM_001198934 exon3 c.5382+7G>A 0.364018 0.5853 0.347455 0.4764 0.6617 Uncertain 6_43406501_C->T 6 43406501 43406501 C T snp 2588.77 0/1 99 238 127 111 0.47 exonic rs2277122 ABCC10 AU synonymous SNV NM_033450 exon6 c.C2011T p.L671L 0.0800719 0.1131 0.035061 0.0638 0.1055 Uncertain 6_43414216_T->C 6 43414216 43414216 T C snp 552.77 1/1 42 16 0 16 1.0 intronic rs1214746 ABCC10 AU NM_001198934 exon16 c.18468+32T>C 0.963658 0.999 0.941701 0.9388 0.9995 Uncertain 6_43414234_G->C 6 43414234 43414234 G C snp 419.77 1/1 33 12 0 12 1.0 intronic rs1214747 ABCC10 AU NM_001198934 exon16 c.18468+50G>C 0.676518 0.6528 0.767574 0.7591 0.6922 Uncertain 6_43492578_G->A 6 43492578 43492578 G A snp 1821.77 1/1 99 61 0 61 1.0 exonic rs2257082 XPO5 AU synonymous SNV NM_020750 exon30 c.C3303T p.Y1101Y 0.32488 0.62 0.230188 0.2948 0.6292 1.0 P -0.783 T Likely benign 6_43494319_A->G 6 43494319 43494319 A G snp 1619.77 1/1 99 56 0 56 1.0 intronic rs1150800 XPO5 AU NM_020750 exon6 c.2817-103A>G 1 1 Uncertain 6_43494580_G->C 6 43494580 43494580 G C snp 648.77 0/1 99 35 6 29 0.83 intronic rs193060856 XPO5 AU NM_020750 exon6 c.2880+95G>C 0.00239617 0.0119 Uncertain 6_43501580_-->A 6 43501580 43501580 - A indel 880.73 1/1 81 27 0 27 1.0 intronic rs11404474 XPO5 AU NM_020750 exon12 c.10038-63insA 1 1 Uncertain 6_43515919_T->C 6 43515919 43515919 T C snp 186.77 0/1 99 10 4 6 0.6 intronic XPO5 AU NM_020750 exon15 c.24392-78T>C Uncertain 6_43536401_C->T 6 43536401 43536401 C T snp 2932.77 1/1 99 109 0 109 1.0 intronic rs4714687 XPO5 AU NM_020750 exon27 c.44842-46C>T 0.165735 0.5407 0.003868 0.0862 0.5366 Uncertain 6_43538208_T->C 6 43538208 43538208 T C snp 1689.77 1/1 99 50 0 50 1.0 intronic rs35642078 XPO5 AU NM_020750 exon28 c.46633-30T>C 0.308706 0.62 0.237101 0.3174 0.6308 Uncertain 6_43603468_C->T 6 43603468 43603468 C T snp 78.77 0/1 30 5 1 4 0.8 intronic rs3757271 MAD2L1BP AU NM_001003690 exon3 c.6631-649C>T 0.0732827 0.0694 Uncertain 6_43646401_A->G 6 43646401 43646401 A G snp 742.77 0/1 99 79 47 32 0.41 intronic rs2295948 MRPS18A AU NM_018135 exon4 c.6864+39A>G 0.355431 0.3988 0.260264 0.2442 0.3785 Uncertain 6_43646447_T->G 6 43646447 43646447 T G snp 461.77 0/1 99 50 29 21 0.42 intronic rs2295949 MRPS18A AU NM_018135 exon4 c.6864+85T>G 0.313698 0.3988 Uncertain 6_43648803_A->G 6 43648803 43648803 A G snp 1274.77 0/1 99 136 74 62 0.46 intronic rs2236345 MRPS18A AU NM_018135 exon5 c.9327-22A>G 0.15016 0.1062 0.128249 0.0904 0.1088 Uncertain 6_43648988_A->G 6 43648988 43648988 A G snp 1054.77 0/1 99 101 55 46 0.46 intronic rs2236346 MRPS18A AU NM_018135 exon5 c.9359+131A>G 0.292732 0.1597 Uncertain 6_43745107_G->A 6 43745107 43745107 G A snp 331.78 1/1 27 9 0 9 1.0 intronic rs3024997 VEGFA AU NM_001204384 exon3 c.6222-98G>A 0.328075 0.4276 Uncertain 6_43745577_C->T 6 43745577 43745577 C T snp 2042.77 1/1 99 74 0 74 1.0 intronic rs3024998 VEGFA AU NM_001204384 exon3 c.6419+175C>T 0.33147 0.4296 Uncertain 6_43746169_C->T 6 43746169 43746169 C T snp 1175.77 1/1 87 42 0 42 1.0 intronic rs3025000 VEGFA AU NM_001204384 exon4 c.7213-27C>T 0.235423 0.4048 0.228817 0.2927 0.4108 Uncertain 6_43748643_T->C 6 43748643 43748643 T C snp 587.77 1/1 45 16 0 16 1.0 intronic rs3025052 VEGFA AU NM_001171623 exon6 c.9608+52T>C 0.989018 1 0.976898 0.9786 0.9999 Uncertain 6_43969839_C->A 6 43969839 43969839 C A snp 784.77 0/1 99 85 46 39 0.46 exonic rs80169011 C6orf223 AU synonymous SNV NM_153246 exon3 c.C258A p.P86P 0.00778754 0.0377 0.000155 0.0046 0.0962 0 D 1 N -0.972 T Likely benign 6_44081718_G->A 6 44081718 44081718 G A snp 6840.77 1/1 99 249 0 249 1.0 exonic rs6883 MRPL14 AU synonymous SNV NM_032111 exon3 c.C300T p.F100F 0.670128 0.7857 0.588421 0.5809 0.8063 Uncertain 6_44081987_T->C 6 44081987 44081987 T C snp 906.77 1/1 66 34 0 34 1.0 intronic rs4711767 MRPL14 AU NM_032111 exon1 c.367+41T>C 0.689896 0.8194 0.605920 0.5944 0.8494 Uncertain 6_44102572_-->T 6 44102572 44102572 - T indel 7891.73 1/1 99 176 0 176 1.0 intronic rs3841315 TMEM63B AU NM_018426 exon2 c.159+92insT 0.682508 0.7986 Uncertain 6_44104286_T->G 6 44104286 44104286 T G snp 854.77 1/1 63 26 0 26 1.0 intronic rs75235749 TMEM63B AU NM_018426 exon5 c.1855+110T>G 0.0537141 0.1369 Uncertain 6_44108937_G->A 6 44108937 44108937 G A snp 1887.77 1/1 99 63 0 63 1.0 intronic rs4628095 TMEM63B AU NM_018426 exon10 c.6514+102G>A 0.121206 0.2262 Uncertain 6_44115079_C->T 6 44115079 44115079 C T snp 3176.77 1/1 99 109 0 109 1.0 intronic rs12176131 TMEM63B AU NM_018426 exon12 c.12792-34C>T 0.0541134 0.1379 0.001461 0.0299 0.1396 Uncertain 6_44115169_G->A 6 44115169 44115169 G A snp 5019.77 1/1 99 189 0 189 1.0 exonic rs4714759 TMEM63B AU nonsynonymous SNV NM_018426 exon12 c.G919A p.V307M 0.104034 0.2252 0.079194 0.1084 0.2468 0.1 T 0.000 P -1.075 T 0.079 T 0.014 T Pathogenic 6_44117607_C->T 6 44117607 44117607 C T snp 3059.77 1/1 99 115 1 114 0.99 exonic rs4714761 TMEM63B AU synonymous SNV NM_018426 exon16 c.C1425T p.I475I 0.0964457 0.2252 0.057213 0.1114 0.2817 1.0 P -0.639 T Likely benign 6_44117664_C->T 6 44117664 44117664 C T snp 4196.77 1/1 99 156 1 155 0.99 exonic rs4714762 TMEM63B AU synonymous SNV NM_018426 exon16 c.C1482T p.I494I 0.105431 0.2321 0.078579 0.1165 0.2570 1.0 P -1.062 T Likely benign 6_44117727_A->G 6 44117727 44117727 A G snp 3326.77 1/1 99 123 1 122 0.99 intronic rs4711768 TMEM63B AU NM_018426 exon16 c.15381+25A>G 0.245607 0.2808 0.230970 0.2860 0.3542 Uncertain 6_44119676_A->G 6 44119676 44119676 A G snp 6564.77 1/1 99 229 0 229 1.0 exonic rs3734697 TMEM63B AU synonymous SNV NM_018426 exon19 c.A1767G p.P589P 0.104832 0.2262 0.078733 0.1097 0.2477 1.000 P -1.063 T Likely benign 6_44121216_T->C 6 44121216 44121216 T C snp 50.74 1/1 6 2 0 2 1.0 intronic rs3813502 TMEM63B AU NM_018426 exon21 c.19091-196T>C 0.395966 0.498 Uncertain 6_44121270_C->T 6 44121270 44121270 C T snp 441.77 1/1 33 15 0 15 1.0 intronic rs1041523 TMEM63B AU NM_018426 exon21 c.19091-142C>T 0.395767 0.498 Uncertain 6_44122417_CTC->- 6 44122417 44122419 CTC - indel 2615.73 1/1 87 49 1 48 0.98 intronic rs10537719 TMEM63B AU NM_018426 exon24 c.20107-11_20107-9delCTC 0.45647 0.499 0.464856 0.4879 0.5328 Uncertain 6_44137663_A->G 6 44137663 44137663 A G snp 1134.77 0/1 99 94 41 53 0.56 exonic rs2275745 CAPN11 AU synonymous SNV NM_007058 exon4 c.A360G p.L120L 0.0119808 0.0546 0.000167 0.0040 0.0483 Uncertain 6_44144798_C->T 6 44144798 44144798 C T snp 1717.77 1/1 99 48 0 48 1.0 intronic rs6925778 CAPN11 AU NM_007058 exon11 c.18150+63C>T 0.51857 0.6597 Uncertain 6_44149154_CACA->- 6 44149154 44149157 CACA - indel 411.73 0/1 99 24 13 11 0.46 intronic rs149157640 CAPN11 AU NM_007058 exon19 c.22472+97_22472+100delCACA 0.683506 0.3284 Uncertain 6_44149187_CA->- 6 44149187 44149188 CA - indel 297.79 0/1 19 17 2 15 0.88 intronic CAPN11 AU NM_007058 exon19 c.22472+130_22472+131delCA Uncertain 6_44149240_C->T 6 44149240 44149240 C T snp 44.77 0/1 31 4 2 2 0.5 intronic rs112988862 CAPN11 AU NM_007058 exon19 c.22472+183C>T Uncertain 6_44151585_G->A 6 44151585 44151585 G A snp 598.77 0/1 99 53 27 26 0.49 intronic rs376552677 CAPN11 AU NM_007058 exon23 c.25057-57G>A 0.00159744 0.0069 0.000219 Uncertain 6_44151765_G->A 6 44151765 44151765 G A snp 501.77 0/1 99 43 19 24 0.56 UTR3 rs13209117 CAPN11 AU 0.311102 0.1101 Uncertain 6_44185254_T->C 6 44185254 44185254 T C snp 2129.77 1/1 99 70 0 70 1.0 intergenic rs3734701 CAPN11 AU 0.823682 0.7381 Uncertain 6_44185264_T->A 6 44185264 44185264 T A snp 2171.77 1/1 99 79 0 79 1.0 intergenic rs79241016 CAPN11 AU 0.184904 0.2738 Uncertain 6_44196995_C->T 6 44196995 44196995 C T snp 174.9 1/1 15 5 0 5 1.0 intronic rs324149 SLC29A1 AU NM_004955 exon3 c.2076-131C>T 0.434105 0.7431 Uncertain 6_44217654_C->A 6 44217654 44217654 C A snp 3175.77 1/1 99 106 0 106 1.0 intronic rs9367190 HSP90AB1 AU NM_001271969 exon4 c.1205+83C>A 0.114816 0.3026 Uncertain 6_44217667_C->T 6 44217667 44217667 C T snp 2485.77 1/1 99 74 0 74 1.0 intronic rs9381303 HSP90AB1 AU NM_001271969 exon5 c.1391-90C>T 0.115016 0.3026 Uncertain 6_44218120_A->G 6 44218120 44218120 A G snp 4275.77 1/1 99 124 0 124 1.0 exonic rs13296 HSP90AB1 AU synonymous SNV NM_007355 exon6 c.A741G p.K247K 0.706869 0.7054 0.722820 0.6830 0.6666 Uncertain 6_44219710_A->C 6 44219710 44219710 A C snp 3348.77 1/1 99 125 0 125 1.0 intronic rs2070695 HSP90AB1 AU NM_001271969 exon10 c.3369-25A>C 0.203874 0.3433 0.143165 0.1551 0.3290 Uncertain 6_44220076_T->C 6 44220076 44220076 T C snp 2788.77 1/1 99 96 0 96 1.0 intronic rs504697 HSP90AB1 AU NM_001271969 exon10 c.3638+72T>C 0.723842 0.745 Uncertain 6_44222047_G->A 6 44222047 44222047 G A snp 1924.77 1/1 99 75 0 75 1.0 UTR3 rs3187 SLC35B2 AU 0.116214 0.3036 0.2168 0.3077 Uncertain 6_44222161_-->TG 6 44222161 44222161 - TG indel 824.73 1/1 51 18 0 18 1.0 UTR3 rs35131506 SLC35B2 AU 0.727236 0.745 ID=COSN228984;OCCURENCE=1(skin) Uncertain 6_44228162_G->A 6 44228162 44228162 G A snp 539.77 0/1 99 51 31 20 0.39 intronic rs2233437 NFKBIE AU NM_004556 exon3 c.1232-25G>A 0.338259 0.3968 0.327541 0.4122 0.3870 Uncertain 6_44228452_A->G 6 44228452 44228452 A G snp 64.77 0/1 93 6 3 3 0.5 intronic rs3799962 NFKBIE AU NM_004556 exon3 c.1321+176A>G 0.353035 0.4266 Uncertain 6_44240193_C->G 6 44240193 44240193 C G snp 93.77 0/1 99 19 14 5 0.26 intronic rs571770 TMEM151B AU NM_001137560 exon2 c.2323-609C>G 0.742013 0.5903 Uncertain 6_44240559_C->T 6 44240559 44240559 C T snp 1984.77 0/1 99 186 104 82 0.44 intronic rs524533 TMEM151B AU NM_001137560 exon2 c.2323-243C>T 0.742013 0.5903 Uncertain 6_44243559_A->G 6 44243559 44243559 A G snp 2897.77 0/1 99 209 97 112 0.54 exonic rs3734710 TMEM151B AU synonymous SNV NM_001137560 exon3 c.A996G p.L332L 0.58746 0.5952 0.607740 0.6553 0.6 Uncertain 6_44245930_C->T 6 44245930 44245930 C T snp 1633.77 0/1 99 136 63 73 0.54 UTR3 rs325018 TMEM151B AU 0.639577 0.6002 Uncertain 6_44246049_A->G 6 44246049 44246049 A G snp 1087.77 0/1 99 84 38 46 0.55 UTR3 rs325017 TMEM151B AU 0.638978 0.6002 Uncertain 6_44247951_T->G 6 44247951 44247951 T G snp 7410.77 1/1 99 250 0 250 1.0 exonic rs484757 TCTE1 AU synonymous SNV NM_182539 exon5 c.A1473C p.I491I 0.883586 1 0.880132 0.9454 0.9997 Uncertain 6_44248257_G->A 6 44248257 44248257 G A snp 44.77 0/1 33 3 1 2 0.67 intronic rs9381305 TCTE1 AU NM_182539 exon1 c.210+130G>A 0.226238 0.4038 Uncertain 6_44250165_A->G 6 44250165 44250165 A G snp 3259.77 0/1 99 250 116 134 0.54 exonic rs516582 TCTE1 AU synonymous SNV NM_182539 exon4 c.T978C p.G326G 0.641573 0.6012 0.715131 0.7508 0.5930 Uncertain 6_44253617_C->T 6 44253617 44253617 C T snp 152.77 0/1 99 16 7 9 0.56 intronic rs324142 TCTE1 AU NM_182539 exon3 c.5783-83C>T 0.644369 0.6002 Uncertain 6_44253650_A->G 6 44253650 44253650 A G snp 506.77 0/1 99 37 19 18 0.49 intronic rs2297335 TCTE1 AU NM_182539 exon3 c.5783-50A>G 0.222843 0.3998 0.148239 0.1884 0.4076 Uncertain 6_44253749_A->G 6 44253749 44253749 A G snp 3485.77 1/1 99 131 0 131 1.0 exonic rs324143 TCTE1 AU synonymous SNV NM_182539 exon3 c.T798C p.R266R 0.879792 0.9851 0.879517 0.9435 0.9865 Uncertain 6_44253765_A->G 6 44253765 44253765 A G snp 1565.77 0/1 99 134 64 70 0.52 exonic rs2297336 TCTE1 AU nonsynonymous SNV NM_182539 exon3 c.T782C p.F261S 0.199281 0.3998 0.122097 0.1830 0.4093 0.01 T 1.000 P -0.408 T 1.0 D 0.973 D Pathogenic 6_44255459_G->A 6 44255459 44255459 G A snp 1567.77 0/1 99 147 73 74 0.5 exonic rs324146 TCTE1 AU nonsynonymous SNV NM_182539 exon2 c.C104T p.P35L 0.644569 0.6002 0.720283 0.7517 0.5928 0.04 T 0.000 P -0.971 T 0.0 T 0.001 T Pathogenic 6_44268135_C->T 6 44268135 44268135 C T snp 185.9 1/1 15 6 0 6 1.0 UTR3 rs325009 AARS2 AR 0.879593 0.998 Uncertain 6_44268371_T->C 6 44268371 44268371 T C snp 3047.77 1/1 99 113 0 113 1.0 exonic rs325008 AARS2 AR synonymous SNV NM_020745 exon22 c.A2871G p.S957S 0.869409 0.998 0.871136 0.9426 0.9982 CLINSIG=non-pathogenic;CLNDBN=not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000123419.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Uncertain 6_44269023_T->C 6 44269023 44269023 T C snp 7482.77 1/1 99 250 0 250 1.0 intronic rs325007 AARS2 AR NM_020745 exon2 c.720+20T>C 0.867812 0.998 0.868292 0.9421 0.9982 Uncertain 6_44269193_C->T 6 44269193 44269193 C T snp 1000.77 0/1 99 104 62 42 0.4 exonic rs498512 AARS2 AR synonymous SNV NM_020745 exon20 c.G2607A p.K869K 0.582668 0.4256 0.678994 0.7015 0.4183 Uncertain 6_44269640_G->A 6 44269640 44269640 G A snp 980.77 1/1 75 26 0 26 1.0 intronic rs325006 AARS2 AR NM_020745 exon4 c.1513-156G>A 0.871805 0.998 Uncertain 6_44269665_AGG->- 6 44269665 44269667 AGG - indel 801.73 0/1 99 42 25 17 0.4 intronic rs10578812 AARS2 AR NM_020745 exon4 c.1513-131_1513-129delAGG 0.209065 0.3968 Uncertain 6_44269680_C->G 6 44269680 44269680 C G snp 2060.77 1/1 99 65 0 65 1.0 intronic rs325005 AARS2 AR NM_020745 exon4 c.1513-116C>G 0.865815 0.998 Uncertain 6_44270365_C->G 6 44270365 44270365 C G snp 288.77 0/1 99 19 5 14 0.74 intronic rs325004 AARS2 AR NM_020745 exon5 c.1967+115C>G 0.426717 0.4157 Uncertain 6_44270768_G->T 6 44270768 44270768 G T snp 821.77 0/1 99 59 29 30 0.51 intronic rs325002 AARS2 AR NM_020745 exon7 c.2519-34G>T 0.584265 0.4266 0.682070 0.7033 0.4208 Uncertain 6_44270936_C->T 6 44270936 44270936 C T snp 2238.77 0/1 99 178 80 98 0.55 intronic rs325001 AARS2 AR NM_020745 exon7 c.2629+24C>T 0.430511 0.4147 0.465785 0.5248 0.4111 Uncertain 6_44273546_A->C 6 44273546 44273546 A C snp 769.77 0/1 99 93 55 38 0.41 intronic rs324137 AARS2 AR NM_020745 exon13 c.5240+23A>C 0.447883 0.4167 0.483777 0.5297 0.4111 Uncertain 6_44274797_T->C 6 44274797 44274797 T C snp 5677.77 1/1 99 209 0 209 1.0 intronic rs7740535 AARS2 AR NM_020745 exon16 c.6485+29T>C 0.886781 0.998 0.887360 0.9473 0.9981 Uncertain 6_44275011_T->C 6 44275011 44275011 T C snp 5173.77 1/1 99 189 0 189 1.0 exonic rs324136 AARS2 AR nonsynonymous SNV NM_020745 exon6 c.A1015G p.I339V 0.888978 0.998 0.886591 0.9469 0.9981 0.3 T 0.001 P -1.086 T 0.0 T 0.0 T CLINSIG=non-pathogenic;CLNDBN=not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000123425.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Pathogenic 6_44278592_A->G 6 44278592 44278592 A G snp 292.77 0/1 99 38 27 11 0.29 intronic rs10807297 AARS2 AR NM_020745 exon19 c.10447-138A>G 0.205671 0.381 Uncertain 6_44320548_T->A 6 44320548 44320548 T A snp 4371.77 1/1 99 173 2 171 0.99 exonic rs4714783 SPATS1 AU synonymous SNV NM_145026 exon3 c.T225A p.S75S 0.702077 0.7044 0.743042 0.7430 0.7376 0.0 P -1.032 T Likely benign 6_44355399_G->T 6 44355399 44355399 G T snp 1457.77 1/1 99 40 0 40 1.0 UTR5 rs2297334 CDC5L AU 0.289537 0.6032 Uncertain 6_44355677_-->GG 6 44355677 44355677 - GG indel 2185.73 1/1 99 75 1 74 0.99 intronic rs11571898 CDC5L AU NM_001253 exon1 c.45+72insGG 0.197085 0.5337 0.038268 Uncertain 6_44357884_T->G 6 44357884 44357884 T G snp 295.78 1/1 24 9 0 9 1.0 intronic rs6908640 CDC5L AU NM_001253 exon2 c.2444-120T>G 0.991014 1 Uncertain 6_44364014_C->T 6 44364014 44364014 C T snp 191.77 0/1 99 14 7 7 0.5 intronic rs11571933 CDC5L AU NM_001253 exon5 c.8517-63C>T 0.00319489 0.0159 Uncertain 6_44371714_C->T 6 44371714 44371714 C T snp 4172.77 1/1 99 171 0 171 1.0 exonic rs6934058 CDC5L AU synonymous SNV NM_001253 exon6 c.C708T p.D236D 0.296526 0.6111 0.128940 0.1715 0.6185 Uncertain 6_44376374_C->T 6 44376374 44376374 C T snp 2599.77 0/1 99 246 129 117 0.48 splicing rs748815520 CDC5L AU NM_001253 exon8 c.20809+5C>T 7.715e-05 0.0010 Pathogenic 6_44392514_G->A 6 44392514 44392514 G A snp 54.74 1/1 6 2 0 2 1.0 intronic rs864127 CDC5L AU NM_001253 exon11 c.36760+194G>A 0.397764 0.6954 Uncertain 6_44403438_A->G 6 44403438 44403438 A G snp 605.77 1/1 45 21 0 21 1.0 ncRNA_exonic rs67182313 MIR4642 AU 0.451877 0.7331 0.6667 . Uncertain 6_44413463_T->A 6 44413463 44413463 T A snp 1567.77 1/1 99 58 0 58 1.0 exonic rs2273666 CDC5L AU synonymous SNV NM_001253 exon15 c.T2163A p.L721L 0.228834 0.5546 0.065278 0.1401 0.5564 Uncertain 6_44413736_A->G 6 44413736 44413736 A G snp 93.28 1/1 9 3 0 3 1.0 intronic rs2273667 CDC5L AU NM_001253 exon15 c.58044+132A>G 0.348043 0.6944 Uncertain 6_44900253_A->G 6 44900253 44900253 A G snp 56.74 1/1 6 2 0 2 1.0 intronic rs3799986 SUPT3H AU NM_181356 exon2 c.102837-136A>G 0.587061 0.7192 Uncertain 6_44921320_C->T 6 44921320 44921320 C T snp 469.77 1/1 36 12 0 12 1.0 intronic rs10948187 SUPT3H AU NM_181356 exon3 c.123602+166C>T 0.474241 0.7143 Uncertain 6_44988149_C->T 6 44988149 44988149 C T snp 99.28 1/1 9 3 0 3 1.0 intronic rs1475534 SUPT3H AU NM_181356 exon8 c.190730-133C>T 0.989018 1 Uncertain 6_45871000_AG->- 6 45871000 45871001 AG - indel 5004.73 1/1 99 111 0 111 1.0 intronic rs35735653 CLIC5 AR NM_016929 exon1 c.168+8_168+9delAG 0.353435 0.4782 0.340735 0.3593 0.4565 Uncertain 6_46133282_T->C 6 46133282 46133282 T C snp 1742.77 0/1 99 138 63 75 0.54 exonic rs16874326 ENPP5 AU nonsynonymous SNV NM_001290073 exon3 c.A566G p.Y189C 0.00878594 0.0407 0.000154 0.0042 0.0542 0 D 0.992 D 0.403 D 1.0 D 0.997 D Pathogenic 6_46293328_G->A 6 46293328 46293328 G A snp 40.77 0/1 69 5 3 2 0.4 ncRNA_intronic rs2277121 LOC101926915 AU 0.620208 0.7202 Uncertain 6_46521339_G->A 6 46521339 46521339 G A snp 143.03 1/1 12 5 0 5 1.0 intronic rs956297 CYP39A1 AU NM_016593 exon2 c.3401-164G>A 0.172524 0.1855 Uncertain 6_46521602_C->A 6 46521602 46521602 C A snp 269.8 1/1 21 10 0 10 1.0 intronic rs699939 CYP39A1 AU NM_016593 exon2 c.3489+11C>A 0.424321 0.2639 0.389282 0.3320 0.2714 Uncertain 6_46621097_T->A 6 46621097 46621097 T A snp 1063.77 0/1 99 58 23 35 0.6 intronic rs8427 SLC25A27 AU NM_001204052 exon1 c.106+62T>A 0.513978 0.6329 Uncertain 6_46623698_T->C 6 46623698 46623698 T C snp 1002.77 0/1 99 95 49 46 0.48 exonic rs3757241 SLC25A27 AU synonymous SNV NM_001204051 exon2 c.T225C p.A75A 0.885383 0.9097 0.855458 0.8319 0.8753 Uncertain 6_46630068_G->A 6 46630068 46630068 G A snp 362.77 0/1 99 49 35 14 0.29 intronic rs9381469 SLC25A27 AU NM_001204052 exon4 c.9183-44G>A 0.451877 0.5625 0.493223 0.4570 0.5798 Uncertain 6_46649231_C->T 6 46649231 46649231 C T snp 3216.73 0/1 99 250 117 133 0.53 intergenic rs7740677 SLC25A27 AU 0.885783 0.9097 0.8451 0.9091 Uncertain 6_46657057_A->G 6 46657057 46657057 A G snp 1713.77 0/1 99 126 55 71 0.56 exonic rs3799277 TDRD6 AU nonsynonymous SNV NM_001010870 exon1 c.A1192G p.T398A 0.888179 0.9097 0.858988 0.8335 0.8777 0.79 T 0.0 P -0.907 T 0.0 T 0.0 T Pathogenic 6_46659565_A->G 6 46659565 46659565 A G snp 1015.77 0/1 99 76 34 42 0.55 exonic rs188770881 TDRD6 AU nonsynonymous SNV NM_001010870 exon1 c.A3700G p.N1234D 0.000599042 0.003 0.0005 0.0064 0.56 T 1 N -0.963 T 0.491 P 0.19 P Pathogenic 6_46672453_AATC->- 6 46672453 46672456 AATC - indel 1172.73 0/1 99 47 25 22 0.47 intronic rs148052037 PLA2G7 AU,AD NM_001168357 exon1 c.137+20_137+23delAATC 0.271565 0.5585 0.284149 0.3461 0.5729 ID=COSN169002;OCCURENCE=2(large_intestine) Uncertain 6_46672943_A->G 6 46672943 46672943 A G snp 794.77 0/1 99 71 35 36 0.51 exonic rs1051931 PLA2G7 AU,AD nonsynonymous SNV NM_005084 exon11 c.T1136C p.V379A 0.810304 0.9087 0.784869 0.8033 0.8777 0.73 T 1.000 P -0.909 T 0.99 D 0.814 D CLINSIG=other|untested;CLNDBN=Asthma_and_atopy\x2c_susceptibility_to|not_provided;CLNREVSTAT=no_assertion_criteria_provided|no_assertion_provided;CLNACC=RCV000008378.1|RCV000049574.1;CLNDSDB=.|MedGen;CLNDSDBID=.|CN221809 ID=CM001309;DIS=Asthma and atopy, association with;TAG=DP;PUB=10733466 DP Pathogenic 6_46680089_G->A 6 46680089 46680089 G A snp 1931.77 0/1 99 188 106 82 0.44 intronic rs753395861 PLA2G7 AU,AD NM_001168357 exon7 c.7778+15G>A 2.492e-05 0.0003 Uncertain 6_46682079_A->C 6 46682079 46682079 A C snp 356.77 0/1 99 24 12 12 0.5 intronic rs1362931 PLA2G7 AU,AD NM_001168357 exon8 c.9900-117A>C 0.863419 0.9097 Uncertain 6_46726441_G->C 6 46726441 46726441 G C snp 88.77 0/1 72 9 3 6 0.67 intronic rs9395212 ANKRD66 AU NM_001162435 exon5 c.11801-18G>C 0.841853 0.8651 0.785370 0.8118 0.8635 Uncertain 6_46766467_G->C 6 46766467 46766467 G C snp 867.77 0/1 99 81 42 39 0.48 intronic rs872018 MEP1A AU NM_005588 exon4 c.5248+84G>C 0.303315 0.2748 Uncertain 6_46766468_G->C 6 46766468 46766468 G C snp 867.77 0/1 99 81 42 39 0.48 intronic rs872019 MEP1A AU NM_005588 exon4 c.5248+85G>C 0.303315 0.2748 Uncertain 6_46777377_T->C 6 46777377 46777377 T C snp 577.77 1/1 45 16 0 16 1.0 intronic rs1833460 MEP1A AU NM_005588 exon6 c.16139+103T>C 0.956869 1 Uncertain 6_46803018_A->T 6 46803018 46803018 A T snp 334.77 0/1 99 29 15 14 0.48 exonic rs2297020 MEP1A AU nonsynonymous SNV NM_005588 exon13 c.A1816T p.T606S 0.323682 0.2718 0.295969 0.3509 0.3730 0.13 T 0.0 P -1.061 T 0.126 T 0.034 T Pathogenic 6_46803102_A->G 6 46803102 46803102 A G snp 654.77 0/1 99 64 39 25 0.39 exonic rs2297019 MEP1A AU nonsynonymous SNV NM_005588 exon13 c.A1900G p.M634V 0.339657 0.2688 0.314778 0.3112 0.3257 1 T 0.0 P -1.032 T 0.0 T 0.0 T Pathogenic 6_46826508_G->A 6 46826508 46826508 G A snp 5562.77 1/1 99 205 0 205 1.0 exonic rs613870 ADGRF5 AU synonymous SNV NM_001098518 exon17 c.C3132T p.N1044N 0.840256 0.9921 0.816316 0.9030 0.9902 Uncertain 6_46826715_T->A 6 46826715 46826715 T A snp 7532.77 1/1 99 248 0 248 1.0 exonic rs572248 ADGRF5 AU synonymous SNV NM_001098518 exon17 c.A2925T p.V975V 0.841454 0.9921 0.818671 0.9034 0.9902 Uncertain 6_46826844_T->C 6 46826844 46826844 T C snp 7571.77 1/1 99 249 0 249 1.0 exonic rs571247 ADGRF5 AU synonymous SNV NM_001098518 exon17 c.A2796G p.T932T 0.841254 0.9921 0.818468 0.9031 0.9901 Uncertain 6_46826910_G->A 6 46826910 46826910 G A snp 6818.77 1/1 99 246 0 246 1.0 exonic rs611779 ADGRF5 AU synonymous SNV NM_001098518 exon17 c.C2730T p.A910A 0.841454 0.9921 0.818699 0.9034 0.9902 Uncertain 6_46826979_A->G 6 46826979 46826979 A G snp 2307.77 0/1 99 184 92 92 0.5 exonic rs9381487 ADGRF5 AU synonymous SNV NM_001098518 exon17 c.T2661C p.Y887Y 0.321286 0.3621 0.249731 0.2576 0.4039 Uncertain 6_46827073_A->G 6 46827073 46827073 A G snp 2140.77 0/1 99 201 102 99 0.49 exonic rs547499 ADGRF5 AU nonsynonymous SNV NM_001098518 exon17 c.T2567C p.M856T 0.510383 0.63 0.557666 0.6431 0.5869 0.31 T 0.000 P -1.025 T 0.514 P 0.165 P Pathogenic 6_46827126_C->T 6 46827126 46827126 C T snp 5601.77 1/1 99 205 0 205 1.0 exonic rs610856 ADGRF5 AU synonymous SNV NM_001098518 exon17 c.G2514A p.S838S 0.841454 0.9921 0.818622 0.9036 0.9902 Uncertain 6_46827239_C->T 6 46827239 46827239 C T snp 1255.77 0/1 99 90 39 51 0.57 exonic rs9395218 ADGRF5 AU nonsynonymous SNV NM_001098518 exon17 c.G2401A p.V801I 0.286941 0.3571 0.217746 0.2480 0.4038 0.53 T 0.000 P -0.931 T 0.04 T 0.051 T Pathogenic 6_46828670_A->G 6 46828670 46828670 A G snp 1507.77 1/1 99 45 0 45 1.0 intronic rs540727 ADGRF5 AU NM_015234 exon6 c.6903+39A>G 0.841653 0.9921 0.818699 0.9045 0.9903 Uncertain 6_46831060_C->T 6 46831060 46831060 C T snp 7267.77 1/1 99 244 0 244 1.0 intronic rs476374 ADGRF5 AU NM_015234 exon7 c.9105+227C>T 0.841054 0.9911 0.9068 0.9940 Uncertain 6_46832642_A->C 6 46832642 46832642 A C snp 210.84 1/1 18 6 0 6 1.0 intronic rs615677 ADGRF5 AU NM_015234 exon8 c.11050-136A>C 0.840655 0.9921 Uncertain 6_46832741_T->C 6 46832741 46832741 T C snp 4031.77 1/1 99 134 0 134 1.0 intronic rs529201 ADGRF5 AU NM_015234 exon8 c.11050-37T>C 0.840655 0.9921 0.815393 0.9031 0.9899 Uncertain 6_46832813_G->A 6 46832813 46832813 G A snp 2681.77 0/1 99 249 135 114 0.46 exonic rs614826 ADGRF5 AU synonymous SNV NM_001098518 exon14 c.C1956T p.V652V 0.5 0.628 0.548593 0.6400 0.5871 Uncertain 6_46834685_G->A 6 46834685 46834685 G A snp 3891.77 1/1 99 142 0 142 1.0 exonic rs586024 ADGRF5 AU nonsynonymous SNV NM_001098518 exon13 c.C1811T p.T604M 0.841254 0.9921 0.818776 0.9034 0.9902 0.29 T 0.0 P -0.984 T 0.177 T 0.008 T Pathogenic 6_46834907_G->- 6 46834907 46834907 G - indel 1784.73 1/1 99 45 0 45 1.0 intronic rs398094158 ADGRF5 AU NM_015234 exon9 c.13146+33delG 0.841254 0.9921 0.817173 0.9042 0.9902 Uncertain 6_46836995_T->C 6 46836995 46836995 T C snp 99.28 1/1 9 3 0 3 1.0 intronic rs515866 ADGRF5 AU NM_015234 exon10 c.15101+166T>C 0.901358 1 Uncertain 6_46838659_-->TG 6 46838659 46838659 - TG indel 937.73 1/1 60 21 0 21 1.0 intronic rs10668775 ADGRF5 AU NM_015234 exon11 c.17851-920insTG 0.937101 0.999 0.9634 1 Uncertain 6_46856100_G->A 6 46856100 46856100 G A snp 5399.77 1/1 99 200 0 200 1.0 exonic rs678312 ADGRF5 AU synonymous SNV NM_001098518 exon4 c.C300T p.T100T 0.861022 0.8413 0.893895 0.8752 0.8567 Uncertain 6_46856263_G->A 6 46856263 46856263 G A snp 1075.77 0/1 99 122 77 45 0.37 intronic rs677439 ADGRF5 AU NM_015234 exon18 c.34514+21G>A 0.302915 0.5159 0.330540 0.3937 0.5144 Uncertain 6_46856284_G->A 6 46856284 46856284 G A snp 1011.77 0/1 99 95 58 37 0.39 intronic rs146532231 ADGRF5 AU NM_015234 exon18 c.34514+42G>A 0.000798722 0.004 0.0005 0.0072 Uncertain 6_46867717_C->T 6 46867717 46867717 C T snp 3523.77 1/1 99 120 0 120 1.0 intronic rs220702 ADGRF5 AU NM_015234 exon19 c.46037-48C>T 0.882987 0.8462 0.923728 0.9015 0.8699 Uncertain 6_46867899_A->- 6 46867899 46867899 A - indel 2182.73 0/1 99 121 51 70 0.58 intronic rs3215601 ADGRF5 AU NM_015234 exon19 c.46092+79delA 0.574681 0.3869 Uncertain 6_46968168_C->T 6 46968168 46968168 C T snp 189.77 0/1 96 10 4 6 0.6 intronic rs819500 ADGRF1 AU NM_153840 exon1 c.74+136C>T 0.4375 0.3502 Uncertain 6_46988648_C->T 6 46988648 46988648 C T snp 77.77 0/1 98 6 3 3 0.5 intronic rs1226493 ADGRF1 AU NM_025048 exon2 c.338+123C>T 0.492812 0.4256 Uncertain 6_46995508_-->A 6 46995508 46995508 - A indel 895.73 0/1 99 97 49 48 0.49 intronic rs3842121 ADGRF1 AU NM_025048 exon6 c.7310+11insA 0.279553 0.2411 0.275567 0.2783 0.2084 Uncertain 6_46996218_C->G 6 46996218 46996218 C G snp 1132.77 0/1 99 114 65 49 0.43 intronic rs1226485 ADGRF1 AU NM_025048 exon7 c.8541-510C>G 0.548123 0.4306 Uncertain 6_47253631_A->G 6 47253631 47253631 A G snp 158.77 0/1 99 17 11 6 0.35 intronic rs11758366 TNFRSF21 AU NM_014452 exon5 c.53179-48A>G 0.134984 0.0685 0.192710 0.1676 0.0845 Uncertain 6_47445927_T->A 6 47445927 47445927 T A snp 1351.77 1/1 99 45 0 45 1.0 UTR5 rs9349406 CD2AP AU 0.952676 1 0.967132 Uncertain 6_47446246_T->G 6 47446246 47446246 T G snp 40.78 0/1 27 3 1 2 0.67 intronic rs13214158 CD2AP AU NM_012120 exon1 c.4+262T>G 0.316094 0.6141 Uncertain 6_47547070_-->A 6 47547070 47547070 - A indel 142.37 0/1 8 17 2 15 0.88 intronic rs34735056 CD2AP AU NM_012120 exon9 c.101140-50insA 0.178714 0.12 0.2618 0.1868 Uncertain 6_47563692_C->T 6 47563692 47563692 C T snp 5058.77 1/1 99 202 0 202 1.0 exonic rs2039503 CD2AP AU synonymous SNV NM_012120 exon12 c.C1204T p.L402L 0.983027 1 0.975704 0.9942 1 Uncertain 6_47645794_T->C 6 47645794 47645794 T C snp 83.78 0/1 24 4 1 3 0.75 intronic rs11753605 ADGRF2 AU NM_153839 exon4 c.4466+173T>C 0.285543 0.5565 Uncertain 6_47649265_T->A 6 47649265 47649265 T A snp 6780.77 1/1 99 238 0 238 1.0 exonic rs17541107 ADGRF2 AU nonsynonymous SNV NM_153839 exon7 c.T766A p.L256M 0.397564 0.6915 0.326792 0.3802 0.7025 0.18 T 0.0 P -0.992 T 0.973 D 0.807 D Pathogenic 6_47658071_A->G 6 47658071 47658071 A G snp 279.77 0/1 99 28 18 10 0.36 intronic rs72860682 ADGRF2 AU NM_153839 exon9 c.17122-206A>G 0.0858626 0.1349 Uncertain 6_47675922_C->T 6 47675922 47675922 C T snp 803.77 0/1 99 81 47 34 0.42 intronic rs16876334 ADGRF4 AU NM_153838 exon3 c.978-37C>T 0.192093 0.5575 0.039213 0.1305 0.5707 Uncertain 6_47678678_C->G 6 47678678 47678678 C G snp 86.77 0/1 99 20 15 5 0.25 intronic rs944056 ADGRF4 AU NM_153838 exon4 c.3641+56C>G 0.827676 0.8671 Uncertain 6_47678718_C->G 6 47678718 47678718 C G snp 32.77 0/1 61 7 5 2 0.29 intronic rs1318391 ADGRF4 AU NM_153838 exon4 c.3641+96C>G 0.299121 0.5575 Uncertain 6_47681494_T->C 6 47681494 47681494 T C snp 589.77 0/1 99 39 20 19 0.49 intronic rs6916562 ADGRF4 AU NM_153838 exon6 c.6552-39T>C 0.826278 0.8661 0.825223 0.8648 0.8685 Uncertain 6_47682604_A->C 6 47682604 47682604 A C snp 2856.77 0/1 99 211 105 106 0.5 exonic rs9369738 ADGRF4 AU nonsynonymous SNV NM_153838 exon6 c.A1623C p.K541N 0.824481 0.8671 0.823774 0.8637 0.8695 0.57 T 0.0 P -1.018 T 0.294 T 0.151 T Pathogenic 6_47682949_C->T 6 47682949 47682949 C T snp 2284.77 0/1 99 166 76 90 0.54 intronic rs16876369 ADGRF4 AU NM_153838 exon6 c.7932+36C>T 0.20028 0.5595 0.042353 0.1396 0.5751 Uncertain 6_47683057_A->G 6 47683057 47683057 A G snp 261.77 0/1 99 15 6 9 0.6 intronic rs41452951 ADGRF4 AU NM_153838 exon6 c.7932+144A>G 0.281749 0.5595 Uncertain 6_47686101_T->C 6 47686101 47686101 T C snp 2348.77 1/1 99 79 0 79 1.0 intronic rs6914013 ADGRF4 AU NM_153838 exon9 c.11143-23T>C 0.98722 1 0.981086 0.9952 1 Uncertain 6_47686235_C->A 6 47686235 47686235 C A snp 1314.77 0/1 99 196 128 68 0.35 intronic rs11754756 ADGRF4 AU NM_153838 exon9 c.11200+54C>A 0.297923 0.5595 0.223488 Uncertain 6_47749728_T->G 6 47749728 47749728 T G snp 1788.77 1/1 99 63 0 63 1.0 upstream rs7741473 OPN5 AU 0.799521 0.9286 Uncertain 6_47754498_A->G 6 47754498 47754498 A G snp 3407.77 1/1 99 104 0 104 1.0 intronic rs1329543 OPN5 AU NM_181744 exon2 c.4568+128A>G 0.584065 0.871 Uncertain 6_47754538_T->C 6 47754538 47754538 T C snp 1819.77 1/1 99 51 0 51 1.0 intronic rs6900985 OPN5 AU NM_181744 exon2 c.4568+168T>C 0.519569 0.871 Uncertain 6_47847179_A->G 6 47847179 47847179 A G snp 7179.77 1/1 99 250 0 250 1.0 exonic rs3799276 PTCHD4 AU synonymous SNV NM_001013732 exon3 c.T1401C p.V467V 0.745607 0.8016 0.718284 0.7674 0.8589 Uncertain 6_47847401_A->G 6 47847401 47847401 A G snp 6621.77 1/1 99 230 0 230 1.0 exonic rs2068006 PTCHD4 AU synonymous SNV NM_001013732 exon3 c.T1179C p.A393A 0.648962 0.746 0.625942 0.6980 0.7884 Uncertain 6_47847683_A->T 6 47847683 47847683 A T snp 505.77 1/1 39 15 0 15 1.0 intronic rs9367307 PTCHD4 AU NM_001013732 exon1 c.1634+11A>T 0.648962 0.746 0.624386 0.6788 0.7658 Uncertain 6_49403282_T->C 6 49403282 49403282 T C snp 513.77 0/1 99 59 34 25 0.42 exonic rs8589 MUT AR nonsynonymous SNV NM_000255 exon12 c.A2011G p.I671V 0.549521 0.4573 0.606951 0.5768 0.4755 1 T 0.000 P -0.720 T 0.0 T 0.012 T CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000078444.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 ID=CM0911477;DIS=Methylmalonic aciduria;TAG=DM;PUB=NO ID DM Pathogenic 6_49412275_T->G 6 49412275 49412275 T G snp 1085.77 0/1 99 96 49 47 0.49 intronic rs9381786 MUT AR NM_000255 exon5 c.12911-76T>G 0.208466 0.25 ID=CS114776;DIS=Methylmalonic aciduria;TAG=DM?;PUB=21671183 DM? Uncertain 6_49415448_C->T 6 49415448 49415448 C T snp 567.77 0/1 99 50 22 28 0.56 exonic rs2229385 MUT AR nonsynonymous SNV NM_000255 exon8 c.G1495A p.A499T 0.086262 0.0675 0.103324 0.0993 0.0653 0.09 T 0.000 P -0.255 T 0.003 T 0.017 T CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000078439.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 6_49425521_C->T 6 49425521 49425521 C T snp 1222.77 0/1 99 93 45 48 0.52 exonic rs2229384 MUT AR synonymous SNV NM_000255 exon3 c.G636A p.K212K 0.551518 0.4792 0.601584 0.5736 0.4905 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter|criteria_provided\x2c_single_submitter;CLNACC=RCV000078447.3|RCV000126887.1;CLNDSDB=MedGen|MedGen;CLNDSDBID=CN169374|CN221809 Uncertain 6_49440599_T->A 6 49440599 49440599 T A snp 147.77 0/1 99 18 8 10 0.56 intronic rs7759308 CENPQ AU NM_018132 exon5 c.2682+28T>A 0.209665 0.2688 0.195511 0.2791 0.3381 Uncertain 6_49456545_G->A 6 49456545 49456545 G A snp 572.77 0/1 99 28 10 18 0.64 intronic rs2501965 CENPQ AU NM_018132 exon8 c.18508+148G>A 0.479832 0.5794 Uncertain 6_49459978_A->G 6 49459978 49459978 A G snp 217.77 0/1 99 24 13 11 0.46 exonic rs2501968 CENPQ AU nonsynonymous SNV NM_018132 exon9 c.A797G p.D266G 0.479034 0.5794 0.410118 0.4591 0.5727 0.02 T 0.026 P -0.980 T 0.047 T 0.083 T Pathogenic 6_49483578_-->CTAT 6 49483578 49483578 - CTAT indel 1157.73 1/1 51 17 0 17 1.0 intronic rs113145900 GLYATL3 AU NM_001010904 exon3 c.3770+105insCTAT 0.527356 0.6181 Uncertain 6_49485266_C->A 6 49485266 49485266 C A snp 4757.77 1/1 99 170 0 170 1.0 exonic rs9367358 GLYATL3 AU nonsynonymous SNV NM_001010904 exon4 c.C310A p.Q104K 0.257987 0.499 0.146737 0.2251 0.4744 0.85 T 0.740 P -1.086 T 0.211 T 0.132 T Pathogenic 6_49485384_C->A 6 49485384 49485384 C A snp 99.28 1/1 9 3 0 3 1.0 intronic rs2501969 GLYATL3 AU NM_001010904 exon4 c.5566+115C>A 0.535144 0.621 Uncertain 6_49518914_C->G 6 49518914 49518914 C G snp 7374.77 1/1 99 250 0 250 1.0 exonic rs6919674 C6orf141 AU nonsynonymous SNV NM_001145652 exon1 c.C409G p.Q137E 0.980232 1 0.983793 0.9916 1 1 T 0.0 P -0.941 T 0.0 T 0.0 T Pathogenic 6_49660418_A->C 6 49660418 49660418 A C snp 2347.77 1/1 99 78 0 78 1.0 UTR3 rs12624 CRISP2 AU 0.670927 0.7808 Uncertain 6_49701439_C->A 6 49701439 49701439 C A snp 5223.77 1/1 99 193 0 193 1.0 exonic rs1864312 CRISP3 AU nonsynonymous SNV NM_001190986 exon5 c.G469T p.A157S 0.365615 0.3105 0.390281 0.4264 0.2932 0.8 T 0.0 P -0.959 T 0.177 T 0.135 T Pathogenic 6_49701523_A->G 6 49701523 49701523 A G snp 6820.77 1/1 99 245 0 245 1.0 exonic rs495335 CRISP3 AU nonsynonymous SNV NM_001190986 exon5 c.T385C p.S129P 0.67512 0.5476 0.696909 0.6800 0.5132 1 T 0.0 P -0.980 T 0.0 T 0.0 T Pathogenic 6_49755030_G->C 6 49755030 49755030 G C snp 220.84 1/1 18 6 0 6 1.0 UTR5 rs28372930 PGK2 AU 0.220248 0.2728 Uncertain 6_49913981_C->T 6 49913981 49913981 C T snp 6680.77 1/1 99 238 0 238 1.0 intronic rs7760672 DEFB133 AU NM_001166478 exon1 c.126+42C>T 0.566094 0.5198 0.557625 0.5185 0.5833 Uncertain 6_49917264_A->C 6 49917264 49917264 A C snp 877.77 1/1 66 27 0 27 1.0 upstream rs9369926 DEFB133 AU 0.584465 0.5188 Uncertain 6_50681661_T->- 6 50681661 50681661 T - indel 684.73 0/1 99 63 32 31 0.49 UTR5 rs35537220 TFAP2D AU Uncertain 6_50683435_CTCT->- 6 50683435 50683438 CTCT - indel 317.77 1/1 21 17 0 17 1.0 intronic rs148612311 TFAP2D AU NM_172238 exon2 c.1558+109_1558+112delCTCT 0.892772 0.9494 Uncertain 6_50683462_T->A 6 50683462 50683462 T A snp 62.77 0/1 91 7 4 3 0.43 intronic rs1178213 TFAP2D AU NM_172238 exon2 c.1558+136T>A 0.892772 0.9494 Uncertain 6_50712784_A->G 6 50712784 50712784 A G snp 1057.77 0/1 99 74 38 36 0.49 intronic rs3765306 TFAP2D AU NM_172238 exon6 c.31051-35A>G 0.455671 0.4286 0.495464 0.4253 0.4141 Uncertain 6_50719232_C->T 6 50719232 50719232 C T snp 38.78 0/1 27 3 1 2 0.67 intronic rs2294470 TFAP2D AU NM_172238 exon7 c.37269+195C>T 0.243211 0.4276 Uncertain 6_50805942_T->G 6 50805942 50805942 T G snp 553.77 1/1 42 18 0 18 1.0 intronic rs2817404 TFAP2B AD NM_003221 exon5 c.19202+136T>G 0.938698 1 Uncertain 6_51483961_T->C 6 51483961 51483961 T C snp 2649.77 0/1 99 220 110 110 0.5 exonic rs9381994 PKHD1 AR nonsynonymous SNV NM_138694 exon67 c.A12143G p.Q4048R 0.565695 0.6131 0.525834 0.5630 0.5727 0.35 T 1.000 P -0.833 T 0.031 T 0.024 T CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000082526.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 6_51484348_G->A 6 51484348 51484348 G A snp 2256.77 0/1 99 170 87 83 0.49 intronic rs9395699 PKHD1 AR NM_138694 exon1 c.440+30G>A 0.177516 0.3552 0.136644 0.1776 0.3761 Uncertain 6_51491884_T->C 6 51491884 51491884 T C snp 2093.77 0/1 99 197 108 89 0.45 exonic rs4715227 PKHD1 AR nonsynonymous SNV NM_138694 exon66 c.A11696G p.Q3899R 0.553315 0.5813 0.523604 0.5550 0.5441 0.02 T 1.000 P -0.438 T 0.295 T 0.134 T CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000082522.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 6_51512707_T->C 6 51512707 51512707 T C snp 53.77 0/1 82 9 6 3 0.33 intronic rs2580009 PKHD1 AR NM_138694 exon5 c.28950-121T>C 0.369609 0.4306 Uncertain 6_51586771_G->A 6 51586771 51586771 G A snp 5718.77 1/1 99 219 1 218 1.0 intronic rs9349593 PKHD1 AR NM_170724 exon1 c.35-47G>A 0.765974 0.9087 0.614870 0.6506 0.8980 Uncertain 6_51613177_C->T 6 51613177 51613177 C T snp 5628.77 1/1 99 196 1 195 0.99 exonic rs765525 PKHD1 AR synonymous SNV NM_138694 exon58 c.G9237A p.A3079A 0.385982 0.6548 0.274027 0.4041 0.7055 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000082591.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 6_51618170_T->G 6 51618170 51618170 T G snp 2990.77 1/1 99 108 0 108 1.0 intronic rs1326605 PKHD1 AR NM_170724 exon5 c.31368+19T>G 0.859425 0.9772 0.7416 0.9222 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000082588.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 6_51619808_G->A 6 51619808 51619808 G A snp 563.77 1/1 42 17 0 17 1.0 intronic rs9370049 PKHD1 AR NM_170724 exon6 c.32953+72G>A 0.39357 0.6835 Uncertain 6_51640751_C->G 6 51640751 51640751 C G snp 1351.77 1/1 96 47 0 47 1.0 intronic rs3920621 PKHD1 AR NM_170724 exon8 c.53936+32C>G 0.40016 0.6617 0.301062 0.4337 0.6992 Uncertain 6_51656236_G->T 6 51656236 51656236 G T snp 1056.77 1/1 78 33 0 33 1.0 intronic rs7765455 PKHD1 AR NM_170724 exon9 c.69388+65G>T 0.642772 0.8294 Uncertain 6_51712492_A->T 6 51712492 51712492 A T snp 755.77 1/1 57 22 0 22 1.0 intronic rs9370067 PKHD1 AR NM_170724 exon12 c.125789-80A>T 0.507987 0.8373 Uncertain 6_51720838_T->C 6 51720838 51720838 T C snp 2684.77 1/1 99 95 0 95 1.0 exonic rs9349603 PKHD1 AR synonymous SNV NM_138694 exon49 c.A7764G p.L2588L 0.538938 0.8383 0.354606 0.4339 0.8663 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000082573.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 6_51720872_A->G 6 51720872 51720872 A G snp 1570.77 1/1 99 48 0 48 1.0 splicing rs7452724 PKHD1 AR NM_170724 exon13 c.134085+4A>G 0.539736 0.8393 0.345456 0.4342 0.8663 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000082572.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 6_51732598_G->A 6 51732598 51732598 G A snp 2071.77 1/1 99 67 0 67 1.0 intronic rs9382043 PKHD1 AR NM_170724 exon14 c.145877-62G>A 0.537939 0.8383 Uncertain 6_51732628_G->A 6 51732628 51732628 G A snp 2995.77 1/1 99 104 0 104 1.0 intronic rs9382044 PKHD1 AR NM_170724 exon14 c.145877-32G>A 0.538738 0.8383 0.354529 0.4345 0.8660 Uncertain 6_51735261_G->T 6 51735261 51735261 G T snp 2637.77 1/1 99 93 0 93 1.0 intronic rs982874 PKHD1 AR NM_170724 exon15 c.148518-40G>T 0.53774 0.8373 0.353375 0.4324 0.8644 Uncertain 6_51750563_A->T 6 51750563 51750563 A T snp 2321.77 1/1 99 75 0 75 1.0 intronic rs4711985 PKHD1 AR NM_170724 exon17 c.163881-101A>T 0.54353 0.8423 Uncertain 6_51798753_G->A 6 51798753 51798753 G A snp 180.9 1/1 15 5 0 5 1.0 intronic rs1266888 PKHD1 AR NM_170724 exon25 c.212124-154G>A 0.774561 0.9296 Uncertain 6_51799166_T->C 6 51799166 51799166 T C snp 144.03 1/1 12 6 0 6 1.0 intronic rs1266889 PKHD1 AR NM_170724 exon25 c.212337+46T>C 0.774361 0.9296 0.679840 0.7015 0.9389 Uncertain 6_51875250_A->C 6 51875250 51875250 A C snp 1738.77 1/1 99 60 0 60 1.0 exonic rs2435322 PKHD1 AR nonsynonymous SNV NM_138694 exon35 c.T5608G p.L1870V 0.955871 1 0.953867 0.9872 1 1 T 0.005 P -0.947 T 0.0 T 0.0 T CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000082560.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 6_51882075_C->G 6 51882075 51882075 C G snp 141.03 1/1 12 4 0 4 1.0 intronic rs9349614 PKHD1 AR NM_170724 exon28 c.295424-132C>G 0.397364 0.3889 Uncertain 6_51890823_G->A 6 51890823 51890823 G A snp 4476.77 1/1 99 167 1 166 0.99 exonic rs9296669 PKHD1 AR nonsynonymous SNV NM_138694 exon32 c.C3785T p.A1262V 0.354633 0.381 0.392357 0.4698 0.3563 0.42 T 0.0 P -0.956 T 0.0 T 0.001 T CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000082549.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 6_51891011_T->C 6 51891011 51891011 T C snp 2226.77 1/1 99 74 0 74 1.0 intronic rs2499480 PKHD1 AR NM_170724 exon30 c.304196+32T>C 0.411941 0.3879 0.453923 0.5156 0.3624 Uncertain 6_51913240_G->A 6 51913240 51913240 G A snp 3169.77 1/1 99 110 0 110 1.0 intronic rs10948667 PKHD1 AR NM_170724 exon39 c.326506-49G>A 0.355631 0.4048 0.388744 0.4649 0.3768 Uncertain 6_51914898_T->C 6 51914898 51914898 T C snp 441.77 1/1 33 13 0 13 1.0 intronic rs9395759 PKHD1 AR NM_170724 exon40 c.328171-56T>C 0.958267 1 Uncertain 6_51914956_G->A 6 51914956 51914956 G A snp 1586.77 1/1 99 49 0 49 1.0 exonic rs9370096 PKHD1 AR nonsynonymous SNV NM_138694 exon22 c.C2278T p.R760C 0.355831 0.4048 0.388667 0.4652 0.3764 0.19 T 0.993 P -1.013 T 0.013 T 0.004 T CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000082536.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 6_51924774_A->G 6 51924774 51924774 A G snp 5174.77 1/1 99 190 0 190 1.0 exonic rs1896976 PKHD1 AR synonymous SNV NM_138694 exon15 c.T1185C p.D395D 0.958267 1 0.959173 0.9883 1 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|Polycystic_kidney_disease\x2c_infantile_type;CLNREVSTAT=criteria_provided\x2c_single_submitter|criteria_provided\x2c_single_submitter;CLNACC=RCV000082524.3|RCV000169626.1;CLNDSDB=MedGen|GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT;CLNDSDBID=CN169374|NBK1326:C0085548:263200:ORPHA731:28770003 Uncertain 6_51930886_-->A 6 51930886 51930886 - A indel 453.73 1/1 48 43 1 42 0.98 intronic rs397803732 PKHD1 AR NM_170724 exon50 c.344092+11insA 0.446685 0.501 0.4606 0.4799 Uncertain 6_51935061_T->G 6 51935061 51935061 T G snp 99.28 1/1 9 3 0 3 1.0 intronic rs4711996 PKHD1 AR NM_170724 exon52 c.348420-142T>G 0.958267 1 Uncertain 6_51935747_C->T 6 51935747 51935747 C T snp 1182.77 1/1 84 41 0 41 1.0 intronic rs17576809 PKHD1 AR NM_170724 exon53 c.349020-56C>T 0.35623 0.3998 0.398554 Uncertain 6_51936846_T->C 6 51936846 51936846 T C snp 2630.77 1/1 99 96 1 95 0.99 intronic rs3936986 PKHD1 AR NM_170724 exon54 c.350129-66T>C 0.355831 0.3998 Uncertain 6_51944847_T->C 6 51944847 51944847 T C snp 808.77 1/1 60 26 0 26 1.0 intronic rs1892274 PKHD1 AR NM_170724 exon57 c.358023+41T>C 0.380591 0.4008 0.418730 0.4742 0.3789 Uncertain 6_51949862_A->G 6 51949862 51949862 A G snp 687.77 1/1 51 18 0 18 1.0 intronic rs9370097 PKHD1 AR NM_170724 exon60 c.363032+47A>G 0.380791 0.4008 Uncertain 6_52051033_G->A 6 52051033 52051033 G A snp 141.77 0/1 99 13 8 5 0.38 upstream rs2275913 IL17A AU 0.292732 0.4931 ID=CR118831;DIS=Graft-versus-host disease, increased risk, association with;TAG=DFP;PUB=22028838 DFP Uncertain 6_52051109_G->A 6 52051109 52051109 G A snp 780.77 0/1 99 61 31 30 0.49 upstream rs8193037 IL17A AU 0.0317492 0.0933 Uncertain 6_52051382_A->G 6 52051382 52051382 A G snp 411.77 0/1 99 34 19 15 0.44 intronic rs8193038 IL17A AU NM_002190 exon1 c.27+126A>G 0.0353435 0.0962 Uncertain 6_52109005_T->G 6 52109005 52109005 T G snp 230.77 0/1 99 15 7 8 0.53 intronic rs2294834 IL17F AU NM_052872 exon3 c.7466-189T>G 0.173722 0.1379 Uncertain 6_52129863_C->A 6 52129863 52129863 C A snp 175.77 0/1 99 16 8 8 0.5 intronic rs11965530 MCM3 AU NM_001270472 exon1 c.199+279C>A 0.0764776 0.1181 Uncertain 6_52130963_T->C 6 52130963 52130963 T C snp 1115.77 0/1 99 112 59 53 0.47 intronic rs2245502 MCM3 AU NM_001270472 exon2 c.1557+21T>C 0.0766773 0.1181 0.076964 0.0951 0.1420 Uncertain 6_52131254_C->T 6 52131254 52131254 C T snp 218.77 0/1 99 12 5 7 0.58 intronic rs10807441 MCM3 AU NM_001270472 exon3 c.2023-154C>T 0.463658 0.3611 Uncertain 6_52141735_A->G 6 52141735 52141735 A G snp 233.77 0/1 99 34 24 10 0.29 intronic rs17246359 MCM3 AU NM_001270472 exon10 c.12479-129A>G 0.0766773 0.1181 Uncertain 6_52147692_T->A 6 52147692 52147692 T A snp 338.77 0/1 99 45 27 18 0.4 intronic rs2307322 MCM3 AU NM_001270472 exon15 c.18274+33T>A 0.458466 0.3998 0.473474 0.4963 0.4423 Uncertain 6_52268008_T->G 6 52268008 52268008 T G snp 2200.77 1/1 99 68 0 68 1.0 UTR5 rs3748066 PAQR8 AU 0.420727 0.249 0.380542 0.3671 0.2961 Uncertain 6_52269046_C->G 6 52269046 52269046 C G snp 1816.77 0/1 99 168 93 75 0.45 exonic rs3799274 PAQR8 AU synonymous SNV NM_133367 exon2 c.C1035G p.V345V 0.118211 0.0327 0.149316 0.1309 0.0385 Uncertain 6_52288586_G->C 6 52288586 52288586 G C snp 124.77 0/1 69 8 3 5 0.63 intronic rs62407871 EFHC1 AD NM_001172420 exon2 c.6-26G>C 0.106629 0.0347 0.1112 0.0248 Uncertain 6_52303291_C->T 6 52303291 52303291 C T snp 2372.77 0/1 99 249 150 99 0.4 exonic rs3804506 EFHC1 AD nonsynonymous SNV NM_018100 exon3 c.C475T p.R159W 0.0688898 0.0347 0.100338 0.1004 0.0352 0.06 T 1 N -0.924 T 0.992 D 0.599 D CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000116949.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 6_52303399_A->G 6 52303399 52303399 A G snp 2252.77 0/1 99 156 66 90 0.58 intronic rs9349626 EFHC1 AD NM_001172420 exon4 c.14783+10A>G 0.202875 0.1925 0.171024 0.2286 0.2232 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000116951.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 6_52319251_C->T 6 52319251 52319251 C T snp 222.84 1/1 18 6 0 6 1.0 intronic rs614570 EFHC1 AD NM_001172420 exon6 c.30479+166C>T 0.499401 0.381 Uncertain 6_52334371_T->C 6 52334371 52334371 T C snp 111.77 0/1 99 12 8 4 0.33 intronic rs62407897 EFHC1 AD NM_001172420 exon8 c.45665+100T>C 0.207668 0.1935 Uncertain 6_52357260_C->A 6 52357260 52357260 C A snp 37.77 0/1 66 4 2 2 0.5 UTR3 rs7757370 EFHC1 AD 0.89996 0.9653 0.8947 0.9732 Uncertain 6_52400825_T->C 6 52400825 52400825 T C snp 853.77 0/1 99 66 32 34 0.52 intronic rs1883929 TRAM2 AU NM_012288 exon10 c.32650+181T>C 0.216254 0.2054 Uncertain 6_52522089_T->C 6 52522089 52522089 T C snp 491.77 0/1 99 48 28 20 0.42 intergenic rs72934796 TRAM2-AS1 AU 0.124401 0.1746 Uncertain 6_52522308_G->A 6 52522308 52522308 G A snp 2897.77 0/1 99 233 117 116 0.5 intergenic rs72934798 TRAM2-AS1 AU 0.124601 0.1756 Uncertain 6_52541811_G->A 6 52541811 52541811 G A snp 3390.77 1/1 99 109 0 109 1.0 intronic rs13211066 TMEM14A AU 0.658546 0.8294 Uncertain 6_52548768_A->T 6 52548768 52548768 A T snp 4142.77 1/1 99 132 0 132 1.0 intronic rs41503153 TMEM14A AU NM_014051 exon4 c.6975-107A>T 0.103634 0.1885 Uncertain 6_52551010_G->A 6 52551010 52551010 G A snp 182.9 1/1 15 5 0 5 1.0 UTR3 rs11543265 TMEM14A AU 0.0980431 0.1875 Uncertain 6_52617731_C->G 6 52617731 52617731 C G snp 6586.77 1/1 99 247 2 245 0.99 exonic rs2180314 GSTA2 AU nonsynonymous SNV NM_000846 exon5 c.G335C p.S112T 0.536342 0.6845 0.500308 0.5917 0.7136 0.59 T 0.0 P -0.906 T 0.0 T 0.001 T ID=CM140463;DIS=Post-transplant serum bilirubin levels, association with;TAG=DP;PUB=24056816 DP Pathogenic 6_52622475_G->T 6 52622475 52622475 G T snp 96.28 1/1 9 3 0 3 1.0 intronic rs2608624 GSTA2 AU NM_000846 exon6 c.7284-183G>T 0.780551 0.8631 Uncertain 6_52622814_C->T 6 52622814 52622814 C T snp 1058.77 1/1 78 33 0 33 1.0 intronic rs2254050 GSTA2 AU NM_000846 exon6 c.7401+39C>T 0.780551 0.8631 Uncertain 6_52657552_C->T 6 52657552 52657552 C T snp 1682.77 1/1 99 57 0 57 1.0 intronic rs4715326 GSTA1 AU NM_145740 exon2 c.998-101C>T 0.704872 0.8631 0.6405 0.8745 Uncertain 6_52662263_C->T 6 52662263 52662263 C T snp 2051.77 1/1 99 67 0 67 1.0 intronic rs2397106 GSTA1 AU NM_145740 exon5 c.5728-120C>T 0.969249 1 Uncertain 6_52697576_C->T 6 52697576 52697576 C T snp 825.77 1/1 60 29 0 29 1.0 intronic rs4715344 GSTA5 AU NM_153699 exon2 c.1011-80C>T 0.446685 0.6786 Uncertain 6_52697825_A->C 6 52697825 52697825 A C snp 2754.77 1/1 99 89 0 89 1.0 intronic rs4715345 GSTA5 AU NM_153699 exon2 c.1143+37A>C 0.985224 1 0.981538 0.9946 1 Uncertain 6_52697834_C->A 6 52697834 52697834 C A snp 2337.77 1/1 99 73 0 73 1.0 intronic rs4715346 GSTA5 AU NM_153699 exon2 c.1143+46C>A 0.959465 1 0.955699 0.9873 0.9999 Uncertain 6_52697890_C->T 6 52697890 52697890 C T snp 973.77 1/1 72 27 0 27 1.0 intronic rs4715347 GSTA5 AU NM_153699 exon2 c.1143+102C>T 0.959265 1 Uncertain 6_52698798_G->T 6 52698798 52698798 G T snp 93.28 1/1 9 3 0 3 1.0 intronic rs4715349 GSTA5 AU NM_153699 exon3 c.2293-140G>T 0.985224 1 Uncertain 6_52701143_C->T 6 52701143 52701143 C T snp 2413.77 1/1 99 88 0 88 1.0 exonic rs2397118 GSTA5 AU nonsynonymous SNV NM_153699 exon4 c.G163A p.V55I 0.888578 0.8681 0.931032 0.9306 0.8748 0.04 T 0.961 P -1.125 T 0.32 T 0.295 T Pathogenic 6_52702085_G->A 6 52702085 52702085 G A snp 164.9 1/1 15 5 0 5 1.0 intronic rs9382146 GSTA5 AU NM_153699 exon5 c.5710-270G>A 0.679712 0.8631 Uncertain 6_52702324_T->C 6 52702324 52702324 T C snp 4780.77 1/1 99 177 0 177 1.0 intronic rs4715350 GSTA5 AU NM_153699 exon5 c.5710-31T>C 0.995407 1 0.996232 0.9987 0.9995 Uncertain 6_52843131_G->T 6 52843131 52843131 G T snp 1646.77 1/1 99 45 0 45 1.0 UTR3 rs367836 GSTA4 AU 0.584465 0.749 Uncertain 6_52843477_A->G 6 52843477 52843477 A G snp 634.77 1/1 48 18 0 18 1.0 intronic rs375887 GSTA4 AU NM_001512 exon1 c.123+87A>G 0.551518 0.749 Uncertain 6_52843524_T->C 6 52843524 52843524 T C snp 56.74 1/1 6 2 0 2 1.0 intronic rs543613 GSTA4 AU NM_001512 exon1 c.123+134T>C 0.958067 0.999 Uncertain 6_52847273_-->AC 6 52847273 52847273 - AC indel 350.74 1/1 27 9 0 9 1.0 intronic rs3831189 GSTA4 AU NM_001512 exon2 c.4104-98insAC Uncertain 6_52847551_G->C 6 52847551 52847551 G C snp 6309.77 1/1 99 223 0 223 1.0 intronic rs316133 GSTA4 AU NM_001512 exon2 c.4236+48G>C 0.57508 0.748 0.575581 0.5905 0.7387 Uncertain 6_52849146_G->T 6 52849146 52849146 G T snp 1241.77 1/1 90 38 0 38 1.0 intronic rs316128 GSTA4 AU NM_001512 exon3 c.5994-115G>T 0.55012 0.748 Uncertain 6_52938469_T->- 6 52938469 52938469 T - indel 119.27 1/1 1 11 1 10 0.91 intronic rs575774353 FBXO9 AU NM_033481 exon3 c.147+32delT 0.914337 0.9812 0.6788 0.7481 Uncertain 6_52943842_A->- 6 52943842 52943842 A - indel 1342.73 1/1 99 36 0 36 1.0 intronic rs35757290 FBXO9 AU NM_033481 exon5 c.5406+146delA 0.740415 0.8819 Uncertain 6_52958479_A->G 6 52958479 52958479 A G snp 1295.77 1/1 96 37 0 37 1.0 intronic rs2816350 FBXO9 AU NM_033481 exon10 c.20069+120A>G 0.962859 0.999 Uncertain 6_52962715_C->T 6 52962715 52962715 C T snp 419.77 1/1 33 13 0 13 1.0 UTR3 rs2744455 FBXO9 AU 0.961861 0.999 Uncertain 6_52963071_A->G 6 52963071 52963071 A G snp 3683.77 1/1 99 134 0 134 1.0 UTR3 rs2876 FBXO9 AU 0.752995 0.872 Uncertain 6_52996708_C->G 6 52996708 52996708 C G snp 977.77 0/1 99 90 46 44 0.49 intronic rs9349655 GCM1 AU NM_003643 exon3 c.3801-96C>G 0.135583 0.2927 Uncertain 6_52998788_G->A 6 52998788 52998788 G A snp 247.77 0/1 99 19 9 10 0.53 intronic rs2816346 GCM1 AU NM_003643 exon4 c.5866-81G>A 0.656749 0.5833 Uncertain 6_52998834_C->T 6 52998834 52998834 C T snp 900.77 0/1 99 58 22 36 0.62 intronic rs2816345 GCM1 AU NM_003643 exon4 c.5866-35C>T 0.71845 0.5833 0.739736 0.7496 0.5792 Uncertain 6_52998856_T->G 6 52998856 52998856 T G snp 1040.77 0/1 99 88 38 50 0.57 intronic rs2518573 GCM1 AU NM_003643 exon4 c.5866-13T>G 0.657348 0.5833 0.673458 0.7217 0.5766 Uncertain 6_52999239_T->G 6 52999239 52999239 T G snp 694.77 0/1 99 59 34 25 0.42 intronic rs7764947 GCM1 AU NM_003643 exon4 c.6119+117T>G 0.13778 0.3016 Uncertain 6_53010182_A->G 6 53010182 53010182 A G snp 525.77 0/1 99 48 25 23 0.48 intronic rs9367511 GCM1 AU NM_003643 exon5 c.17352-173A>G 0.23762 0.2768 Uncertain 6_53134104_-->ACAG 6 53134104 53134104 - ACAG indel 2151.73 0/1 99 87 51 36 0.41 intronic rs3830806 ELOVL5 AD NM_001242830 exon1 c.158+36insACAG 0.598043 0.4276 0.602716 0.5035 0.4144 Uncertain 6_53134164_-->CTTTT 6 53134164 53134164 - CTTTT indel 1540.73 0/1 99 42 22 20 0.48 intronic rs70980834 ELOVL5 AD NM_001242830 exon1 c.158+96insCTTTT 0.49381 0.4276 Uncertain 6_53138204_A->- 6 53138204 53138204 A - indel 361.73 0/1 99 42 10 32 0.76 intronic rs35189966 ELOVL5 AD NM_001301856 exon3 c.4218+62delA 0.522165 0.4454 Uncertain 6_53138260_G->A 6 53138260 53138260 G A snp 279.77 0/1 54 11 2 9 0.82 intronic rs9463895 ELOVL5 AD NM_001301856 exon3 c.4218+118G>A 0.403754 0.3879 Uncertain 6_53140161_G->A 6 53140161 53140161 G A snp 86.77 0/1 30 4 1 3 0.75 intronic rs2294862 ELOVL5 AD NM_001242830 exon3 c.6149+102G>A 0.377196 0.3869 Uncertain 6_53140928_T->A 6 53140928 53140928 T A snp 449.77 0/1 99 26 9 17 0.65 intronic rs2294864 ELOVL5 AD NM_001242830 exon4 c.7066-48T>A 0.597444 0.4286 0.602894 0.5175 0.4282 Uncertain 6_53152642_G->A 6 53152642 53152642 G A snp 723.77 0/1 99 54 26 28 0.52 intronic rs6458913 ELOVL5 AD NM_001242828 exon6 c.18735-17G>A 0.403554 0.3879 0.3847 0.3712 Uncertain 6_53152758_A->G 6 53152758 53152758 A G snp 1358.77 0/1 99 121 61 60 0.5 intronic rs6907982 ELOVL5 AD NM_001242828 exon6 c.18816+18A>G 0.377596 0.3879 0.3825 0.3712 Uncertain 6_53152845_T->G 6 53152845 53152845 T G snp 959.77 0/1 99 68 29 39 0.57 intronic rs3817960 ELOVL5 AD NM_001242828 exon6 c.18816+105T>G 0.403554 0.3879 Uncertain 6_53160383_G->T 6 53160383 53160383 G T snp 1249.77 0/1 99 121 63 58 0.48 intronic rs3736732 ELOVL5 AD NM_001242831 exon2 c.1359-56G>T 0.590855 0.4296 0.570083 Uncertain 6_53363776_G->C 6 53363776 53363776 G C snp 574.77 0/1 99 45 27 18 0.4 intronic rs2066507 GCLC AR,AU NM_001498 exon1 c.212+11G>C 0.0147764 0.0704 0.000384 0.0055 0.0689 Uncertain 6_53365019_G->C 6 53365019 53365019 G C snp 5866.77 1/1 99 203 0 203 1.0 intronic rs661346 GCLC AR,AU NM_001498 exon3 c.1491-25G>C 0.999601 1 0.999231 0.9981 1 Uncertain 6_53370107_T->C 6 53370107 53370107 T C snp 613.77 1/1 48 19 0 19 1.0 intronic rs661603 GCLC AR,AU NM_001498 exon5 c.6636-82T>C 0.576078 0.5734 0.5220 0.6109 Uncertain 6_53370395_C->T 6 53370395 53370395 C T snp 661.77 0/1 99 47 24 23 0.49 intronic rs524553 GCLC AR,AU NM_001498 exon5 c.6741+101C>T 0.142173 0.122 Uncertain 6_53370752_A->T 6 53370752 53370752 A T snp 365.77 0/1 99 32 17 15 0.47 intronic rs1014852 GCLC AR,AU NM_001498 exon6 c.7140+59A>T 0.303714 0.4236 Uncertain 6_53372145_T->C 6 53372145 53372145 T C snp 442.77 0/1 99 34 16 18 0.53 intronic rs1555903 GCLC AR,AU NM_001498 exon8 c.8724-132T>C 0.287939 0.4246 Uncertain 6_53373197_G->C 6 53373197 53373197 G C snp 192.77 0/1 99 11 3 8 0.73 intronic rs2235707 GCLC AR,AU NM_001498 exon9 c.9839-195G>C 0.243411 0.25 Uncertain 6_53378861_-->T 6 53378861 53378861 - T indel 684.73 1/1 51 17 0 17 1.0 intronic rs11385177 GCLC AR,AU NM_001498 exon11 c.15448-140insT 0.577476 0.5625 Uncertain 6_53379405_A->C 6 53379405 53379405 A C snp 1633.77 1/1 99 45 0 45 1.0 intronic rs3736729 GCLC AR,AU NM_001498 exon12 c.15742+110A>C 0.444089 0.3948 Uncertain 6_53385475_C->T 6 53385475 53385475 C T snp 644.77 1/1 48 17 0 17 1.0 intronic rs2100375 GCLC AR,AU NM_001498 exon14 c.22022-100C>T 0.315695 0.374 Uncertain 6_53516876_T->G 6 53516876 53516876 T G snp 5628.77 1/1 99 211 0 211 1.0 exonic rs6928338 KLHL31 AU synonymous SNV NM_001003760 exon3 c.A1425C p.I475I 0.990415 1 0.987498 0.9971 1 Uncertain 6_53517228_A->C 6 53517228 53517228 A C snp 599.77 0/1 99 39 16 23 0.59 intronic rs41273882 KLHL31 AU NM_001003760 exon1 c.733+100A>C 0.0710863 0.0843 0.0779 0.0971 Uncertain 6_53519062_A->G 6 53519062 53519062 A G snp 2844.77 0/1 99 250 144 106 0.42 exonic rs10948758 KLHL31 AU synonymous SNV NM_001003760 exon2 c.T1009C p.L337L 0.682308 0.6994 0.690758 0.7312 0.7085 Uncertain 6_53519605_C->T 6 53519605 53519605 C T snp 1645.77 0/1 99 128 62 66 0.52 exonic rs3799260 KLHL31 AU nonsynonymous SNV NM_001003760 exon2 c.G466A p.V156I 0.861422 0.9157 0.816162 0.8403 0.9082 0.44 T 1.000 P -0.910 T 0.309 T 0.197 T Pathogenic 6_53519857_G->A 6 53519857 53519857 G A snp 2924.77 0/1 99 211 93 118 0.56 exonic rs12210809 KLHL31 AU synonymous SNV NM_001003760 exon2 c.C214T p.L72L 0.490415 0.5982 0.480701 0.5738 0.6163 Uncertain 6_53520088_T->C 6 53520088 53520088 T C snp 1727.77 1/1 99 60 0 60 1.0 UTR5 rs2038939 KLHL31 AU 0.932907 1 0.890957 0.9131 1 Uncertain 6_53520124_A->G 6 53520124 53520124 A G snp 263.77 0/1 99 21 11 10 0.48 intronic rs2038940 KLHL31 AU NM_001003760 exon2 c.3708+21A>G 0.861422 0.9157 Uncertain 6_53660358_C->T 6 53660358 53660358 C T snp 742.77 1/1 54 23 0 23 1.0 intronic rs4314499 LRRC1 AU NM_018214 exon1 c.159+145C>T 0.300919 0.5942 Uncertain 6_53707098_C->T 6 53707098 53707098 C T snp 3607.77 1/1 99 128 0 128 1.0 intronic rs4286781 LRRC1 AU NM_018214 exon2 c.46971+73C>T 0.855032 0.9623 Uncertain 6_53762092_A->G 6 53762092 53762092 A G snp 1683.77 1/1 99 68 0 68 1.0 exonic rs9349688 LRRC1 AU nonsynonymous SNV NM_018214 exon7 c.A577G p.I193V 0.119609 0.2659 0.069517 0.1115 0.2388 0.42 T 1.0 P -1.068 T 0.449 T 0.426 P Pathogenic 6_53769304_A->C 6 53769304 53769304 A C snp 363.77 0/1 99 23 6 17 0.74 intronic rs765958135 LRRC1 AU NM_018214 exon10 c.109206+44A>C 6.635e-05 0.0008 Uncertain 6_53784268_-->T 6 53784268 53784268 - T indel 689.73 1/1 73 27 0 27 1.0 intronic rs371290750 LRRC1 AU NM_018214 exon12 c.124241-27insT 0.766573 0.9385 0.685137 0.3817 0.5473 Uncertain 6_53785276_C->A 6 53785276 53785276 C A snp 265.8 1/1 21 8 0 8 1.0 intronic rs2294789 LRRC1 AU NM_018214 exon13 c.125368-146C>A 0.245807 0.4901 Uncertain 6_53785381_A->G 6 53785381 53785381 A G snp 609.77 0/1 99 80 51 29 0.36 intronic LRRC1 AU NM_018214 exon13 c.125368-41A>G Uncertain 6_53847528_G->A 6 53847528 53847528 G A snp 3009.77 1/1 99 112 0 112 1.0 ncRNA_intronic rs9370250 LOC101927189 AU 0.996406 1 0.9999 1 Uncertain 6_53948318_G->A 6 53948318 53948318 G A snp 2445.77 0/1 99 197 93 104 0.53 intronic MLIP AU NM_138569 exon2 c.102418-37926G>A Uncertain 6_53989526_G->A 6 53989526 53989526 G A snp 2904.77 0/1 99 211 94 117 0.55 exonic rs4712056 MLIP AU nonsynonymous SNV NM_001281746 exon3 c.G475A p.V159I 0.615615 0.7331 0.593265 0.6302 0.6974 0.0 P -1.053 T 0.187 T 0.037 T Pathogenic 6_54003184_A->G 6 54003184 54003184 A G snp 256.8 1/1 21 9 0 9 1.0 intronic rs2754780 MLIP AU NM_001281747 exon4 c.26807+100A>G 0.953474 1 Uncertain 6_54013765_A->G 6 54013765 54013765 A G snp 1004.77 0/1 99 71 36 35 0.49 intronic rs2145755 MLIP AU NM_138569 exon4 c.130027-88A>G 0.447085 0.2976 Uncertain 6_54025155_T->C 6 54025155 54025155 T C snp 2207.77 0/1 99 158 69 89 0.56 intronic rs10484648 MLIP AU NM_138569 exon5 c.141338-9T>C 0.117013 0.2143 0.056205 0.0983 0.2540 Uncertain 6_54054686_T->A 6 54054686 54054686 T A snp 429.77 0/1 99 29 12 17 0.59 exonic rs6934690 MLIP AU nonsynonymous SNV NM_138569 exon9 c.T958A p.S320T 0.797324 0.8115 0.850377 0.8795 0.7754 0.23 T 0.0 P -1.028 T 0.982 D 0.831 D Pathogenic 6_54054837_A->G 6 54054837 54054837 A G snp 99.28 1/1 9 3 0 3 1.0 intronic rs9296739 MLIP AU NM_138569 exon9 c.170886+125A>G 0.552716 0.7252 Uncertain 6_54079968_G->A 6 54079968 54079968 G A snp 238.77 0/1 99 45 32 13 0.29 exonic rs11757700 MLIP AU nonsynonymous SNV NM_001281746 exon12 c.G2716A p.G906R 0.655152 0.7976 0.7491 0.7647 0 D 0.0 P -0.962 T 0.0 T 0.0 T Pathogenic 6_54095411_C->G 6 54095411 54095411 C G snp 499.77 0/1 99 33 16 17 0.52 intronic rs2275770 MLIP AU NM_138569 exon11 c.211685-100C>G 0.159744 0.1845 Uncertain 6_54095423_T->C 6 54095423 54095423 T C snp 580.77 0/1 99 40 20 20 0.5 intronic rs816384 MLIP AU NM_138569 exon11 c.211685-88T>C 0.660144 0.7986 Uncertain 6_54095524_C->T 6 54095524 54095524 C T snp 2099.77 0/1 99 183 91 92 0.5 exonic rs2275769 MLIP AU nonsynonymous SNV NM_138569 exon11 c.C1126T p.P376S 0.159744 0.1845 0.113640 0.1098 0.2203 0.19 T 1.000 P -0.985 T 0.009 T 0.005 T Pathogenic 6_54172959_A->G 6 54172959 54172959 A G snp 794.77 0/1 99 91 56 35 0.38 upstream rs2297982 TINAG AU 0.151358 0.3433 Uncertain 6_54173085_T->A 6 54173085 54173085 T A snp 260.8 1/1 21 7 0 7 1.0 upstream rs2297981 TINAG AU 0.66893 0.8611 Uncertain 6_54186024_T->C 6 54186024 54186024 T C snp 1038.77 0/1 99 69 28 41 0.59 intronic rs2297986 TINAG AU NM_014464 exon3 c.12746-70T>C 0.375799 0.2976 Uncertain 6_54186147_T->C 6 54186147 54186147 T C snp 5364.77 1/1 99 197 0 197 1.0 exonic rs1058768 TINAG AU nonsynonymous SNV NM_014464 exon3 c.T472C p.S158P 0.737819 0.8472 0.701599 0.6839 0.8450 1 T 0.000 P -0.981 T 0.0 T 0.0 T Pathogenic 6_54191970_T->A 6 54191970 54191970 T A snp 4046.77 1/1 99 151 0 151 1.0 intronic rs1848440 TINAG AU NM_014464 exon4 c.18366+256T>A 0.7502 0.8433 0.7234 0.8585 Uncertain 6_54208240_T->C 6 54208240 54208240 T C snp 1059.77 1/1 78 33 0 33 1.0 intronic rs3777644 TINAG AU NM_014464 exon5 c.34799+93T>C 0.135783 0.3115 Uncertain 6_54245503_G->A 6 54245503 54245503 G A snp 488.77 1/1 36 17 0 17 1.0 intronic rs3777636 TINAG AU NM_014464 exon10 c.72021+134G>A 0.160942 0.3591 Uncertain 6_54254580_T->G 6 54254580 54254580 T G snp 3265.77 1/1 99 125 0 125 1.0 intronic rs3736353 TINAG AU NM_014464 exon11 c.81240-8T>G 0.112021 0.3145 0.049293 0.0564 0.2881 Uncertain 6_54254589_A->C 6 54254589 54254589 A C snp 3768.77 1/1 99 137 0 137 1.0 exonic rs3736352 TINAG AU nonsynonymous SNV NM_014464 exon11 c.A1297C p.I433L 0.112021 0.3145 0.049362 0.0561 0.2875 1.000 P -0.902 T 0.489 P 0.186 P Pathogenic 6_54734941_C->A 6 54734941 54734941 C A snp 618.77 0/1 99 53 32 21 0.4 intronic rs7765721 FAM83B AU 0.256989 0.1161 Uncertain 6_54735122_A->G 6 54735122 54735122 A G snp 3444.77 0/1 99 250 108 142 0.57 exonic rs1472679 FAM83B AU synonymous SNV NM_001010872 exon2 c.A78G p.E26E 0.340056 0.1488 0.470014 0.4421 0.1329 Uncertain 6_55113411_C->A 6 55113411 55113411 C A snp 1283.77 0/1 99 110 61 49 0.45 intronic rs3122169 HCRTR2 AU NM_001526 exon2 c.74051-25C>A 0.763778 0.5139 0.854990 0.7830 0.5017 Uncertain 6_55142337_A->G 6 55142337 55142337 A G snp 2228.77 1/1 99 86 0 86 1.0 exonic rs2653349 HCRTR2 AU nonsynonymous SNV NM_001526 exon5 c.A922G p.I308V 0.878794 0.9375 0.824389 0.8393 0.9455 1 T 0.002 P -1.041 T 0.0 T 0.001 T ID=CM042720;DIS=Cluster headache, association with;TAG=DP;PUB=15477554 DP Pathogenic 6_55146936_A->G 6 55146936 55146936 A G snp 1389.77 1/1 99 46 0 46 1.0 intronic rs76380807 HCRTR2 AU NM_001526 exon7 c.107637-86A>G 0.057508 0.2411 Uncertain 6_55215079_G->A 6 55215079 55215079 G A snp 663.77 1/1 48 25 0 25 1.0 intronic rs1032767 GFRAL AU NM_207410 exon4 c.22591+136G>A 0.94389 1 Uncertain 6_55215155_C->T 6 55215155 55215155 C T snp 143.03 1/1 12 5 0 5 1.0 intronic rs7743512 GFRAL AU NM_207410 exon4 c.22591+212C>T 0.435104 0.5397 Uncertain 6_55215868_A->G 6 55215868 55215868 A G snp 119.03 1/1 12 4 0 4 1.0 intronic rs9396082 GFRAL AU NM_207410 exon5 c.23698-182A>G 0.326877 0.371 Uncertain 6_55216005_G->A 6 55216005 55216005 G A snp 3381.77 1/1 99 120 0 120 1.0 intronic rs870806 GFRAL AU NM_207410 exon5 c.23698-45G>A 0.435503 0.5397 0.479087 0.5118 0.5108 Uncertain 6_55264362_T->C 6 55264362 55264362 T C snp 525.77 0/1 99 28 9 19 0.68 intronic rs6936510 GFRAL AU NM_207410 exon8 c.71887+123T>C 0.692093 0.7966 Uncertain 6_55266625_T->C 6 55266625 55266625 T C snp 1009.77 0/1 99 85 38 47 0.55 exonic rs9370418 GFRAL AU nonsynonymous SNV NM_207410 exon9 c.T1159C p.S387P 0.691693 0.7956 0.689220 0.7082 0.7778 1 T 0.0 P -1.034 T 0.0 T 0.0 T Pathogenic 6_55266722_C->T 6 55266722 55266722 C T snp 546.77 0/1 99 45 23 22 0.49 UTR3 rs12529201 GFRAL AU 0.689297 0.7956 Uncertain 6_55381262_G->A 6 55381262 55381262 G A snp 1081.77 0/1 99 97 52 45 0.46 intronic rs6459082 HMGCLL1 AU NM_001042406 exon6 c.80846-43G>A 0.648163 0.5754 0.690864 0.6724 0.5584 Uncertain 6_55406399_C->T 6 55406399 55406399 C T snp 85.77 0/1 67 6 2 4 0.67 intronic rs9367638 HMGCLL1 AU NM_001042406 exon7 c.106067-127C>T 0.367013 0.5337 Uncertain 6_55428658_A->C 6 55428658 55428658 A C snp 471.77 0/1 99 50 29 21 0.42 UTR5 rs4398737 HMGCLL1 AU 0.473642 0.5595 0.4285 0.5076 Uncertain 6_55442034_ATAGAAAAA->- 6 55442034 55442042 ATAGAAAAA - indel 873.73 0/1 99 24 10 14 0.58 intronic rs147198216 HMGCLL1 AU NM_019036 exon9 c.141506+69_141506+77delATAGAAAAA 0.521166 0.628 Uncertain 6_55639028_G->A 6 55639028 55639028 G A snp 598.77 0/1 99 57 31 26 0.46 exonic rs41271330 BMP5 AU synonymous SNV NM_021073 exon4 c.C846T p.N282N 0.0914537 0.2054 0.095110 0.1087 0.1709 Uncertain 6_55929347_T->C 6 55929347 55929347 T C snp 2722.77 1/1 99 105 0 105 1.0 intronic rs2235735 COL21A1 AU NM_030820 exon7 c.6921-28T>C 0.613219 0.8224 0.573144 0.6261 0.8658 Uncertain 6_55938839_G->A 6 55938839 55938839 G A snp 44.74 1/1 6 2 0 2 1.0 intronic rs4715576 COL21A1 AU NM_030820 exon11 c.16575-190G>A 0.446885 0.7351 Uncertain 6_55966418_A->G 6 55966418 55966418 A G snp 649.77 1/1 48 20 0 20 1.0 intronic rs4379279 COL21A1 AU NM_030820 exon14 c.43869+95A>G 0.729433 0.87 Uncertain 6_56021870_-->AAA 6 56021870 56021870 - AAA indel 168.87 1/1 15 7 0 7 1.0 intronic rs111577315 COL21A1 AU NM_030820 exon21 c.99293+123insAAA 0.763778 0.8601 Uncertain 6_56044578_T->C 6 56044578 56044578 T C snp 7181.77 1/1 99 250 0 250 1.0 exonic rs2038149 COL21A1 AU synonymous SNV NM_030820 exon3 c.A438G p.K146K 0.690895 0.8631 0.644833 0.6620 0.8859 Uncertain 6_56045043_C->A 6 56045043 56045043 C A snp 56.74 1/1 6 2 0 2 1.0 intronic rs2038150 COL21A1 AU NM_030820 exon28 c.122473+116C>A 0.66893 0.7768 Uncertain 6_56365814_A->G 6 56365814 56365814 A G snp 3739.77 1/1 99 126 0 126 1.0 ncRNA_intronic rs4283892 RNU6-71P AU 0.753395 0.7599 Uncertain 6_56371664_A->G 6 56371664 56371664 A G snp 364.77 0/1 99 29 16 13 0.45 ncRNA_intronic rs80137082 RNU6-71P AU 0.00239617 0.002 Uncertain 6_56371698_A->G 6 56371698 56371698 A G snp 351.78 1/1 27 9 0 9 1.0 ncRNA_intronic rs9296848 RNU6-71P AU 0.763778 0.7589 Uncertain 6_56374754_C->A 6 56374754 56374754 C A snp 349.78 1/1 27 10 0 10 1.0 ncRNA_intronic rs9296849 RNU6-71P AU 0.636382 0.6468 Uncertain 6_56381912_G->A 6 56381912 56381912 G A snp 3381.77 1/1 99 120 2 118 0.98 ncRNA_intronic rs4715626 RNU6-71P AU 0.632987 0.6488 Uncertain 6_56394173_T->C 6 56394173 56394173 T C snp 292.78 1/1 24 10 0 10 1.0 ncRNA_intronic rs9357922 RNU6-71P AU 0.753794 0.7897 Uncertain 6_56395051_C->A 6 56395051 56395051 C A snp 909.77 1/1 66 29 0 29 1.0 ncRNA_intronic rs6939305 RNU6-71P AU 0.681909 0.6448 Uncertain 6_56399731_A->T 6 56399731 56399731 A T snp 80.28 1/1 9 3 0 3 1.0 ncRNA_intronic rs7758054 RNU6-71P AU 0.789736 0.7887 Uncertain 6_56417282_C->T 6 56417282 56417282 C T snp 7125.77 1/1 99 248 1 247 1.0 exonic rs4715630 DST AR nonsynonymous SNV NM_015548 exon42 c.G8439A p.M2813I 0.791534 0.7887 0.794349 0.7601 0.7978 0.31 T 1.0 P -0.997 T 0.0 T 0.001 T Pathogenic 6_56417545_T->C 6 56417545 56417545 T C snp 7383.77 1/1 99 250 0 250 1.0 exonic rs4715631 DST AR nonsynonymous SNV NM_015548 exon42 c.A8176G p.T2726A 0.662141 0.6488 0.682998 0.7040 0.6586 1 T 0.999 P -0.973 T 0.005 T 0.02 T Pathogenic 6_56507135_T->C 6 56507135 56507135 T C snp 936.77 0/1 99 81 43 38 0.47 ncRNA_intronic rs1024195 RNU6-71P AU 0.697883 0.5456 Uncertain 6_56569258_C->T 6 56569258 56569258 C T snp 388.77 0/1 99 52 34 18 0.35 ncRNA_intronic rs9396232 RNU6-71P AU 0.00778754 0.0377 Uncertain 6_56818706_T->C 6 56818706 56818706 T C snp 1139.77 1/1 84 36 0 36 1.0 intergenic rs986245 LOC101930010 AU 0.984026 0.9633 Uncertain 6_56873069_T->C 6 56873069 56873069 T C snp 3214.74 1/1 99 116 0 116 1.0 intronic rs6925819 BEND6 AU NM_152731 exon4 c.33322-6861T>C 0.983027 1 Uncertain 6_56879824_-->AC 6 56879824 56879824 - AC indel 437.73 0/1 99 34 23 11 0.32 intronic rs149690283 BEND6 AU NM_152731 exon4 c.33322-106insAC 0.145168 0.2024 Uncertain 6_56911574_A->G 6 56911574 56911574 A G snp 770.77 0/1 99 37 11 26 0.7 exonic rs9382680 KIAA1586 AU synonymous SNV NM_020931 exon1 c.A21G p.E7E 0.2277 0.2041 Uncertain 6_56917538_G->A 6 56917538 56917538 G A snp 688.77 0/1 99 63 37 26 0.41 exonic rs6926980 KIAA1586 AU nonsynonymous SNV NM_020931 exon4 c.G241A p.V81M 0.217452 0.131 0.265108 0.2239 0.1282 0.4 T 0.0 P -0.955 T 0.005 T 0.015 T Pathogenic 6_56919443_A->G 6 56919443 56919443 A G snp 727.77 0/1 99 63 30 33 0.52 exonic rs61740375 KIAA1586 AU nonsynonymous SNV NM_020931 exon4 c.A2146G p.I716V 0.0922524 0.0893 0.086226 0.1289 0.1405 0.64 T 0.000 P -0.913 T 0.055 T 0.039 T Pathogenic 6_56963708_T->G 6 56963708 56963708 T G snp 76.77 0/1 69 5 2 3 0.6 intronic rs9367711 ZNF451 AU NM_015555 exon3 c.8807-150T>G 0.0626997 0.0893 Uncertain 6_56998023_A->G 6 56998023 56998023 A G snp 1179.77 0/1 99 99 51 48 0.48 ncRNA_intronic rs3757296 LOC101927211 AU 0.120208 0.0893 0.119791 0.0998 0.0910 Uncertain 6_57006933_T->C 6 57006933 57006933 T C snp 1887.77 0/1 99 180 97 83 0.46 ncRNA_intronic rs2273921 LOC101927211 AU 0.21905 0.131 0.269107 0.2257 0.1285 Uncertain 6_57012742_A->G 6 57012742 57012742 A G snp 3581.77 0/1 99 250 117 133 0.53 exonic rs567926496 ZNF451 AU nonsynonymous SNV NM_001031623 exon10 c.A1859G p.Y620C 0.000399361 9.942e-05 0 0.2 T 1 N -0.917 T 0.0 T 0.001 T Pathogenic 6_57012930_C->T 6 57012930 57012930 C T snp 1286.77 0/1 99 136 85 51 0.38 exonic rs3734738 ZNF451 AU synonymous SNV NM_001031623 exon10 c.C2047T p.L683L 0.21885 0.131 0.265303 0.2248 0.1285 Uncertain 6_57048458_C->T 6 57048458 57048458 C T snp 44.77 0/1 33 3 1 2 0.67 intronic rs9885757 BAG2 AU NM_004282 exon3 c.11080-117C>T 0.254193 0.131 Uncertain 6_57055354_C->T 6 57055354 57055354 C T snp 2228.77 0/1 99 191 96 95 0.5 exonic rs1040461 RAB23 AR nonsynonymous SNV NM_183227 exon7 c.G619A p.G207S 0.115415 0.0883 0.115024 0.0979 0.0907 1 T 0.000 P -1.071 T 0.0 T 0.0 T Pathogenic 6_57244672_G->A 6 57244672 57244672 G A snp 705.77 0/1 99 45 17 28 0.62 intronic rs5011404 PRIM2 AU NM_000947 exon6 c.61455-26G>A 0.5000 0.5010 Uncertain 6_57244780_G->A 6 57244780 57244780 G A snp 1315.77 0/1 99 112 50 62 0.55 exonic rs5011403 PRIM2 AU unknown 0.5000 0.4998 Uncertain 6_57244830_T->A 6 57244830 57244830 T A snp 873.77 0/1 99 77 39 38 0.49 intronic rs5011402 PRIM2 AU NM_000947 exon6 c.61551+36T>A 0.4990 0.5 Uncertain 6_57244834_T->A 6 57244834 57244834 T A snp 361.77 0/1 99 70 51 19 0.27 intronic rs539725890 PRIM2 AU NM_000947 exon6 c.61551+40T>A 0.0163738 0.0417 0.0023 0.0367 Uncertain 6_57244893_T->C 6 57244893 57244893 T C snp 68.77 0/1 97 9 6 3 0.33 intronic rs5011401 PRIM2 AU NM_000947 exon6 c.61551+99T>C Uncertain 6_57246708_G->T 6 57246708 57246708 G T snp 581.77 0/1 99 51 31 20 0.39 intronic rs6913779 PRIM2 AU NM_000947 exon7 c.63585-120G>T 0.00319489 Uncertain 6_57246773_-->AGG 6 57246773 57246773 - AGG indel 5141.73 0/1 99 247 145 102 0.41 intronic rs10684945 PRIM2 AU NM_000947 exon7 c.63585-55insAGG Uncertain 6_57246785_A->C 6 57246785 57246785 A C snp 3183.76 0/1 99 249 129 120 0.48 intronic rs62415470 PRIM2 AU NM_000947 exon7 c.63585-43A>C 0.000199681 0.001 0.4989 0.4980 Uncertain 6_57246815_T->C 6 57246815 57246815 T C snp 3177.77 0/1 99 249 129 120 0.48 intronic rs6936571 PRIM2 AU NM_000947 exon7 c.63585-13T>C 0.000199681 0.4998 0.4986 Uncertain 6_57246884_A->G 6 57246884 57246884 A G snp 3041.77 0/1 99 249 139 110 0.44 exonic rs6913546 PRIM2 AU unknown 0.4999 0.4987 Uncertain 6_57246969_G->A 6 57246969 57246969 G A snp 2918.77 0/1 99 223 116 107 0.48 splicing rs4256440 PRIM2 AU NM_000947 exon7 c.63723+3G>A 0.4998 0.4976 Pathogenic 6_57246982_G->T 6 57246982 57246982 G T snp 2678.77 0/1 99 212 112 100 0.47 intronic rs4585567 PRIM2 AU NM_000947 exon7 c.63723+16G>T 0.4998 0.4974 Uncertain 6_57247022_C->T 6 57247022 57247022 C T snp 1708.77 0/1 99 112 55 57 0.51 intronic rs4382263 PRIM2 AU NM_000947 exon7 c.63723+56C>T 0.4997 0.4979 Uncertain 6_57247093_A->T 6 57247093 57247093 A T snp 138.77 0/1 99 11 6 5 0.45 intronic rs4499918 PRIM2 AU NM_000947 exon7 c.63723+127A>T Uncertain 6_57254789_A->G 6 57254789 57254789 A G snp 1732.77 0/1 99 163 91 72 0.44 intronic rs2397264 PRIM2 AU NM_000947 exon7 c.63723+7823A>G Uncertain 6_57254811_A->G 6 57254811 57254811 A G snp 6947.77 1/1 99 235 0 235 1.0 intronic rs941685 PRIM2 AU NM_000947 exon7 c.63723+7845A>G 0.999601 1 Uncertain 6_57254839_T->C 6 57254839 57254839 T C snp 2851.77 0/1 99 249 138 111 0.45 intronic rs2397265 PRIM2 AU NM_000947 exon7 c.63723+7873T>C Uncertain 6_57254927_A->G 6 57254927 57254927 A G snp 2149.77 0/1 99 243 152 91 0.37 intronic rs2397266 PRIM2 AU NM_000947 exon7 c.63723+7961A>G 0.5 0.5 Uncertain 6_57254950_-->T 6 57254950 57254950 - T indel 2820.73 0/1 99 234 148 86 0.37 ncRNA_exonic rs397962125 MIR548U AU 0.5 0.5 Uncertain 6_57254955_G->A 6 57254955 57254955 G A snp 1767.77 0/1 99 228 147 81 0.36 ncRNA_exonic rs2894842 MIR548U AU 0.5 0.5 Uncertain 6_57254986_G->A 6 57254986 57254986 G A snp 1524.77 0/1 99 189 125 64 0.34 ncRNA_exonic rs2397267 MIR548U AU 0.5 0.5 Uncertain 6_57255001_C->A 6 57255001 57255001 C A snp 1158.77 0/1 99 134 89 45 0.34 ncRNA_exonic rs2894843 MIR548U AU 0.5 0.5 Uncertain 6_57255015_G->C 6 57255015 57255015 G C snp 530.77 0/1 99 89 63 26 0.29 intronic rs2894844 PRIM2 AU NM_000947 exon7 c.63723+8049G>C 0.5 0.5 Uncertain 6_57255032_C->G 6 57255032 57255032 C G snp 448.77 0/1 99 56 40 16 0.29 intronic rs7769711 PRIM2 AU NM_000947 exon7 c.63723+8066C>G 0.00119808 0.005 0.5 0.5 Uncertain 6_57372104_T->C 6 57372104 57372104 T C snp 134.77 0/1 99 30 23 7 0.23 intronic rs2024986 PRIM2 AU NM_000947 exon8 c.189044-183T>C Uncertain 6_57372116_T->C 6 57372116 57372116 T C snp 861.77 0/1 99 50 20 30 0.6 intronic rs9382768 PRIM2 AU NM_000947 exon8 c.189044-171T>C Uncertain 6_57372126_C->G 6 57372126 57372126 C G snp 251.77 0/1 99 68 53 15 0.22 intronic rs9396314 PRIM2 AU NM_000947 exon8 c.189044-161C>G Uncertain 6_57372199_T->C 6 57372199 57372199 T C snp 4119.77 0/1 99 250 102 148 0.59 intronic rs9382769 PRIM2 AU NM_000947 exon8 c.189044-88T>C Uncertain 6_57372361_C->A 6 57372361 57372361 C A snp 3886.77 0/1 99 235 91 144 0.61 splicing rs9382770 PRIM2 AU NM_000947 exon8 c.189112+6C>A 0.5000 0.5 Pathogenic 6_57372365_A->G 6 57372365 57372365 A G snp 454.77 0/1 99 233 200 33 0.14 intronic rs9396315 PRIM2 AU NM_000947 exon8 c.189112+10A>G 0.3579 0.2349 Uncertain 6_57372375_T->- 6 57372375 57372375 T - indel 2289.73 0/1 99 228 155 73 0.32 intronic rs68090917 PRIM2 AU NM_000947 exon8 c.189112+20delT 0.4994 0.4978 Uncertain 6_57372436_G->C 6 57372436 57372436 G C snp 2448.77 0/1 99 137 49 88 0.64 intronic rs9382771 PRIM2 AU NM_000947 exon8 c.189112+81G>C Uncertain 6_57372437_C->T 6 57372437 57372437 C T snp 982.77 0/1 99 136 95 41 0.3 intronic rs79221898 PRIM2 AU NM_000947 exon8 c.189112+82C>T Uncertain 6_57372457_T->- 6 57372457 57372457 T - indel 639.73 0/1 99 92 39 53 0.58 intronic rs35141035 PRIM2 AU NM_000947 exon8 c.189112+102delT Uncertain 6_57372480_A->G 6 57372480 57372480 A G snp 596.77 0/1 99 40 21 19 0.47 intronic rs79601039 PRIM2 AU NM_000947 exon8 c.189112+125A>G Uncertain 6_57372502_G->A 6 57372502 57372502 G A snp 529.77 0/1 99 24 9 15 0.63 intronic rs9349872 PRIM2 AU NM_000947 exon8 c.189112+147G>A Uncertain 6_57372510_T->G 6 57372510 57372510 T G snp 200.77 0/1 99 18 11 7 0.39 intronic rs77697887 PRIM2 AU NM_000947 exon8 c.189112+155T>G Uncertain 6_57372514_T->C 6 57372514 57372514 T C snp 130.77 0/1 99 15 10 5 0.33 intronic rs77868044 PRIM2 AU NM_000947 exon8 c.189112+159T>C Uncertain 6_57393092_T->A 6 57393092 57393092 T A snp 65.77 0/1 94 19 15 4 0.21 intronic rs73752377 PRIM2 AU NM_000947 exon9 c.209868-19T>A 0.4865 0.4925 Uncertain 6_57393125_A->G 6 57393125 57393125 A G snp 623.77 0/1 99 39 12 27 0.69 exonic rs927192 PRIM2 AU unknown 0.5028 0.5054 Uncertain 6_57393144_A->T 6 57393144 57393144 A T snp 267.77 0/1 99 44 32 12 0.27 exonic rs3763183 PRIM2 AU unknown 0.118111 0.1289 0.1907 Uncertain 6_57393160_G->A 6 57393160 57393160 G A snp 183.77 0/1 99 48 36 12 0.25 exonic rs76686926 PRIM2 AU unknown 0.4894 0.4866 Uncertain 6_57393199_C->A 6 57393199 57393199 C A snp 407.77 0/1 99 46 26 20 0.43 intronic rs2397502 PRIM2 AU NM_000947 exon9 c.209941+15C>A 0.4970 0.4921 Uncertain 6_57393216_G->T 6 57393216 57393216 G T snp 652.77 0/1 99 46 14 32 0.7 intronic rs2397503 PRIM2 AU NM_000947 exon9 c.209941+32G>T 0.5007 0.5017 Uncertain 6_57393222_A->G 6 57393222 57393222 A G snp 162.77 0/1 99 46 35 11 0.24 intronic rs111989160 PRIM2 AU NM_000947 exon9 c.209941+38A>G 0.4953 0.4894 Uncertain 6_57393228_G->A 6 57393228 57393228 G A snp 162.77 0/1 99 46 35 11 0.24 intronic rs112156516 PRIM2 AU NM_000947 exon9 c.209941+44G>A 0.4953 0.4880 Uncertain 6_57393278_T->C 6 57393278 57393278 T C snp 85.77 0/1 99 23 18 5 0.22 intronic rs75909609 PRIM2 AU NM_000947 exon9 c.209941+94T>C Uncertain 6_57393338_T->A 6 57393338 57393338 T A snp 41.77 0/1 70 4 2 2 0.5 intronic rs2397504 PRIM2 AU NM_000947 exon9 c.209941+154T>A Uncertain 6_57398008_C->T 6 57398008 57398008 C T snp 156.77 0/1 97 8 3 5 0.63 intronic rs7771257 PRIM2 AU NM_000947 exon10 c.214888-123C>T Uncertain 6_57398009_A->G 6 57398009 57398009 A G snp 188.77 0/1 99 10 4 6 0.6 intronic rs7771114 PRIM2 AU NM_000947 exon10 c.214888-122A>G Uncertain 6_57398047_A->C 6 57398047 57398047 A C snp 257.77 0/1 99 62 50 12 0.19 intronic rs76081480 PRIM2 AU NM_000947 exon10 c.214888-84A>C Uncertain 6_57398058_C->G 6 57398058 57398058 C G snp 516.77 0/1 99 77 58 19 0.25 intronic rs7771283 PRIM2 AU NM_000947 exon10 c.214888-73C>G Uncertain 6_57398081_T->G 6 57398081 57398081 T G snp 2038.77 0/1 99 135 61 74 0.55 intronic rs7753294 PRIM2 AU NM_000947 exon10 c.214888-50T>G Uncertain 6_57398117_-->A 6 57398117 57398117 - A indel 1222.73 0/1 99 250 186 64 0.26 intronic rs139574925 PRIM2 AU NM_000947 exon10 c.214888-14insA 0.0771 0.0495 Uncertain 6_57398118_G->T 6 57398118 57398118 G T snp 1357.77 0/1 99 250 186 64 0.26 intronic rs147643173 PRIM2 AU NM_000947 exon10 c.214888-13G>T 0.3717 0.3041 Uncertain 6_57398154_T->C 6 57398154 57398154 T C snp 3528.77 0/1 99 248 119 129 0.52 exonic rs80081867 PRIM2 AU unknown 0.4994 0.4986 Uncertain 6_57398157_A->G 6 57398157 57398157 A G snp 3673.77 0/1 99 250 119 131 0.52 exonic rs9476080 PRIM2 AU unknown 0.4994 0.4986 Uncertain 6_57398163_A->G 6 57398163 57398163 A G snp 3835.77 0/1 99 250 111 139 0.56 exonic rs9476081 PRIM2 AU unknown 0.4994 0.4986 Uncertain 6_57398186_-->A 6 57398186 57398186 - A indel 1654.73 0/1 99 250 182 68 0.27 exonic rs147954160 PRIM2 AU unknown 0.1868 0.1289 ID=COSM1745432;OCCURENCE=1(urinary_tract) Uncertain 6_57398201_T->C 6 57398201 57398201 T C snp 4330.77 0/1 99 250 94 156 0.62 exonic rs62398997 PRIM2 AU unknown 0.4981 0.4988 Uncertain 6_57398207_G->T 6 57398207 57398207 G T snp 668.77 0/1 99 250 208 42 0.17 exonic rs71214816 PRIM2 AU unknown 0.0362 0.0294 Uncertain 6_57398226_T->A 6 57398226 57398226 T A snp 2046.77 0/1 99 249 95 154 0.62 exonic rs77436138 PRIM2 AU unknown 0.0930 0.0701 CLINSIG=untested;CLNDBN=Malignant_melanoma;CLNREVSTAT=no_assertion_provided;CLNACC=RCV000067430.2;CLNDSDB=MedGen:SNOMED_CT;CLNDSDBID=C0025202:2092003 Uncertain 6_57398264_A->G 6 57398264 57398264 A G snp 3884.77 0/1 99 242 86 156 0.64 exonic rs62398998 PRIM2 AU unknown 0.5000 0.5 Uncertain 6_57398270_C->T 6 57398270 57398270 C T snp 1688.77 0/1 99 240 158 82 0.34 exonic rs62398999 PRIM2 AU unknown 0.4947 0.4914 Uncertain 6_57398335_A->T 6 57398335 57398335 A T snp 2563.77 0/1 99 149 58 91 0.61 intronic rs4715745 PRIM2 AU NM_000947 exon10 c.215074+18A>T 0.5095 0.5105 Uncertain 6_57398395_A->T 6 57398395 57398395 A T snp 41.77 0/1 70 22 18 4 0.18 intronic rs78658694 PRIM2 AU NM_000947 exon10 c.215074+78A>T Uncertain 6_57398412_A->G 6 57398412 57398412 A G snp 117.77 0/1 99 15 10 5 0.33 intronic rs6937166 PRIM2 AU NM_000947 exon10 c.215074+95A>G Uncertain 6_57415121_G->A 6 57415121 57415121 G A snp 1174.77 0/1 99 156 109 47 0.3 intronic rs7741368 PRIM2 AU NM_000947 exon10 c.215074+16804G>A 0.00139776 Uncertain 6_57415142_A->- 6 57415142 57415142 A - indel 1853.73 0/1 99 227 160 67 0.3 intronic rs11346545 PRIM2 AU NM_000947 exon10 c.215074+16825delA Uncertain 6_57415161_T->G 6 57415161 57415161 T G snp 4581.77 0/1 99 250 84 166 0.66 intronic rs493737 PRIM2 AU NM_000947 exon10 c.215074+16844T>G Uncertain 6_57415173_G->A 6 57415173 57415173 G A snp 2123.77 0/1 99 250 169 81 0.32 intronic rs496135 PRIM2 AU NM_000947 exon10 c.215074+16856G>A 0.00399361 Uncertain 6_57415223_A->T 6 57415223 57415223 A T snp 2185.77 0/1 99 246 160 86 0.35 intronic rs7741129 PRIM2 AU NM_000947 exon10 c.215074+16906A>T Uncertain 6_57415231_T->C 6 57415231 57415231 T C snp 2210.77 0/1 99 244 158 86 0.35 intronic rs7761558 PRIM2 AU NM_000947 exon10 c.215074+16914T>C Uncertain 6_57415309_G->C 6 57415309 57415309 G C snp 3725.77 0/1 99 206 66 140 0.68 intronic rs7741689 PRIM2 AU NM_000947 exon10 c.215074+16992G>C Uncertain 6_57415349_-->A 6 57415349 57415349 - A indel 2231.73 0/1 99 95 30 65 0.68 intronic rs11412269 PRIM2 AU NM_000947 exon10 c.215074+17032insA Uncertain 6_57415403_-->A 6 57415403 57415403 - A indel 472.73 0/1 99 37 14 23 0.62 intronic rs11412270 PRIM2 AU NM_000947 exon10 c.215074+17086insA 0.411142 0.379 Uncertain 6_57415420_T->C 6 57415420 57415420 T C snp 112.77 0/1 99 22 16 6 0.27 intronic rs9349880 PRIM2 AU NM_000947 exon10 c.215074+17103T>C Uncertain 6_57415425_A->T 6 57415425 57415425 A T snp 183.77 0/1 99 16 9 7 0.44 intronic rs7741460 PRIM2 AU NM_000947 exon10 c.215074+17108A>T Uncertain 6_57433356_G->C 6 57433356 57433356 G C snp 83.77 0/1 59 5 2 3 0.6 intronic rs2397539 PRIM2 AU NM_000947 exon11 c.283836-33723G>C Uncertain 6_57433361_A->G 6 57433361 57433361 A G snp 141.77 0/1 94 8 3 5 0.63 intronic rs2397540 PRIM2 AU NM_000947 exon11 c.283836-33718A>G Uncertain 6_57433425_C->T 6 57433425 57433425 C T snp 1014.77 0/1 99 56 19 37 0.66 intronic rs2397541 PRIM2 AU NM_000947 exon11 c.283836-33654C>T Uncertain 6_57433455_C->G 6 57433455 57433455 C G snp 673.77 0/1 99 86 51 35 0.41 intronic rs2151625 PRIM2 AU NM_000947 exon11 c.283836-33624C>G Uncertain 6_57433502_AAAAAAG->- 6 57433502 57433508 AAAAAAG - indel 3808.73 0/1 99 119 72 47 0.39 intronic rs201029322 PRIM2 AU NM_000947 exon11 c.283836-33577_283836-33571delAAAAAAG 0.360623 0.376 Uncertain 6_57433525_T->G 6 57433525 57433525 T G snp 623.77 0/1 99 123 91 32 0.26 intronic rs518931 PRIM2 AU NM_000947 exon11 c.283836-33554T>G Uncertain 6_57433544_G->A 6 57433544 57433544 G A snp 496.77 0/1 99 118 86 32 0.27 intronic rs562762 PRIM2 AU NM_000947 exon11 c.283836-33535G>A Uncertain 6_57433616_T->C 6 57433616 57433616 T C snp 923.77 0/1 99 55 18 37 0.67 intronic rs518037 PRIM2 AU NM_000947 exon11 c.283836-33463T>C Uncertain 6_57433669_A->G 6 57433669 57433669 A G snp 203.77 0/1 99 21 14 7 0.33 intronic rs4464799 PRIM2 AU NM_000947 exon11 c.283836-33410A>G Uncertain 6_57457650_C->A 6 57457650 57457650 C A snp 67.77 0/1 96 6 3 3 0.5 intronic rs74959384 PRIM2 AU NM_000947 exon11 c.283836-9429C>A Uncertain 6_57457668_G->A 6 57457668 57457668 G A snp 107.77 0/1 99 12 8 4 0.33 intronic rs62399096 PRIM2 AU NM_000947 exon11 c.283836-9411G>A Uncertain 6_57457703_-->G 6 57457703 57457703 - G indel 365.73 0/1 99 25 13 12 0.48 intronic rs111977760 PRIM2 AU NM_000947 exon11 c.283836-9376insG Uncertain 6_57457704_A->T 6 57457704 57457704 A T snp 335.77 0/1 99 25 13 12 0.48 intronic rs5008381 PRIM2 AU NM_000947 exon11 c.283836-9375A>T Uncertain 6_57457737_A->G 6 57457737 57457737 A G snp 430.77 0/1 99 47 29 18 0.38 intronic rs9476161 PRIM2 AU NM_000947 exon11 c.283836-9342A>G Uncertain 6_57457744_A->G 6 57457744 57457744 A G snp 267.77 0/1 99 51 40 11 0.22 intronic rs4110758 PRIM2 AU NM_000947 exon11 c.283836-9335A>G Uncertain 6_57457779_G->C 6 57457779 57457779 G C snp 1352.77 0/1 99 86 30 56 0.65 intronic rs4110759 PRIM2 AU NM_000947 exon11 c.283836-9300G>C Uncertain 6_57457843_T->G 6 57457843 57457843 T G snp 593.77 0/1 99 118 89 29 0.25 intronic rs4110760 PRIM2 AU NM_000947 exon11 c.283836-9236T>G Uncertain 6_57457947_A->C 6 57457947 57457947 A C snp 506.77 0/1 99 94 64 30 0.32 intronic rs2397945 PRIM2 AU NM_000947 exon11 c.283836-9132A>C Uncertain 6_57457958_G->C 6 57457958 57457958 G C snp 867.77 0/1 99 92 55 37 0.4 intronic rs2397562 PRIM2 AU NM_000947 exon11 c.283836-9121G>C Uncertain 6_57457960_A->G 6 57457960 57457960 A G snp 437.77 0/1 99 91 67 24 0.26 intronic rs2093718 PRIM2 AU NM_000947 exon11 c.283836-9119A>G Uncertain 6_57457973_C->T 6 57457973 57457973 C T snp 555.77 0/1 99 81 53 28 0.35 intronic rs74595165 PRIM2 AU NM_000947 exon11 c.283836-9106C>T Uncertain 6_57457974_T->G 6 57457974 57457974 T G snp 1114.77 0/1 99 80 30 50 0.63 intronic rs4598061 PRIM2 AU NM_000947 exon11 c.283836-9105T>G Uncertain 6_57457995_G->C 6 57457995 57457995 G C snp 1081.77 0/1 99 67 21 46 0.69 intronic rs4501418 PRIM2 AU NM_000947 exon11 c.283836-9084G>C Uncertain 6_57458001_A->G 6 57458001 57458001 A G snp 505.77 0/1 99 63 37 26 0.41 intronic rs78499845 PRIM2 AU NM_000947 exon11 c.283836-9078A>G Uncertain 6_57458006_C->T 6 57458006 57458006 C T snp 129.77 0/1 99 55 44 11 0.2 intronic rs4120410 PRIM2 AU NM_000947 exon11 c.283836-9073C>T 0.00119808 Uncertain 6_57458044_A->C 6 57458044 57458044 A C snp 299.77 0/1 99 32 20 12 0.38 intronic rs4351265 PRIM2 AU NM_000947 exon11 c.283836-9035A>C Uncertain 6_57458104_C->G 6 57458104 57458104 C G snp 40.77 0/1 69 6 4 2 0.33 intronic rs4395722 PRIM2 AU NM_000947 exon11 c.283836-8975C>G Uncertain 6_57466957_C->T 6 57466957 57466957 C T snp 86.77 0/1 30 4 1 3 0.75 intronic rs9885746 PRIM2 AU NM_000947 exon11 c.283836-122C>T Uncertain 6_57466958_A->G 6 57466958 57466958 A G snp 86.77 0/1 30 4 1 3 0.75 intronic rs12212128 PRIM2 AU NM_000947 exon11 c.283836-121A>G Uncertain 6_57466987_T->C 6 57466987 57466987 T C snp 206.77 0/1 99 20 13 7 0.35 intronic rs12205887 PRIM2 AU NM_000947 exon11 c.283836-92T>C Uncertain 6_57467084_A->G 6 57467084 57467084 A G snp 2107.77 0/1 99 249 156 93 0.37 exonic rs9885913 PRIM2 AU unknown 0.4994 0.4953 Uncertain 6_57467093_A->G 6 57467093 57467093 A G snp 2318.77 0/1 99 250 158 92 0.37 exonic rs9885916 PRIM2 AU unknown 0.4994 0.4954 Uncertain 6_57467100_G->C 6 57467100 57467100 G C snp 5129.77 0/1 99 250 64 186 0.74 exonic rs4535533 PRIM2 AU unknown 0.5 0.5 Uncertain 6_57467107_C->T 6 57467107 57467107 C T snp 2720.77 0/1 99 250 153 97 0.39 exonic rs9885751 PRIM2 AU unknown 0.4994 0.4955 Uncertain 6_57467175_A->G 6 57467175 57467175 A G snp 1725.77 0/1 99 250 181 69 0.28 exonic rs4406234 PRIM2 AU unknown 0.5 0.5 Uncertain 6_57467279_T->C 6 57467279 57467279 T C snp 1671.77 0/1 99 242 171 71 0.29 intronic rs6459263 PRIM2 AU NM_000947 exon11 c.283963+73T>C Uncertain 6_57467282_T->C 6 57467282 57467282 T C snp 1679.77 0/1 99 241 170 71 0.29 intronic rs6459264 PRIM2 AU NM_000947 exon11 c.283963+76T>C Uncertain 6_57467303_A->G 6 57467303 57467303 A G snp 6905.77 1/1 99 221 0 221 1.0 intronic rs1022846 PRIM2 AU NM_000947 exon11 c.283963+97A>G Uncertain 6_57467317_G->T 6 57467317 57467317 G T snp 1850.77 0/1 99 207 132 75 0.36 intronic rs4637646 PRIM2 AU NM_000947 exon11 c.283963+111G>T Uncertain 6_57467323_G->C 6 57467323 57467323 G C snp 1869.77 0/1 99 201 130 71 0.35 intronic rs4424069 PRIM2 AU NM_000947 exon11 c.283963+117G>C Uncertain 6_57472201_A->G 6 57472201 57472201 A G snp 71.77 0/1 99 20 16 4 0.2 intronic rs9885694 PRIM2 AU NM_000947 exon12 c.289115-157A>G Uncertain 6_57472212_T->A 6 57472212 57472212 T A snp 718.77 0/1 99 38 15 23 0.61 intronic rs9296899 PRIM2 AU NM_000947 exon12 c.289115-146T>A Uncertain 6_57472255_C->T 6 57472255 57472255 C T snp 1851.77 0/1 99 125 55 70 0.56 intronic rs9296900 PRIM2 AU NM_000947 exon12 c.289115-103C>T Uncertain 6_57472299_A->G 6 57472299 57472299 A G snp 2105.77 0/1 99 250 157 93 0.37 intronic rs9396358 PRIM2 AU NM_000947 exon12 c.289115-59A>G Uncertain 6_57472315_A->G 6 57472315 57472315 A G snp 4354.77 0/1 99 250 92 158 0.63 intronic rs9296901 PRIM2 AU NM_000947 exon12 c.289115-43A>G 0.496805 0.4931 0.5005 0.5013 Uncertain 6_57472316_G->A 6 57472316 57472316 G A snp 2210.77 0/1 99 250 157 93 0.37 intronic rs9382818 PRIM2 AU NM_000947 exon12 c.289115-42G>A 0.496805 0.4931 0.4981 0.4981 Uncertain 6_57472344_-->T 6 57472344 57472344 - T indel 1593.73 0/1 99 250 177 73 0.29 intronic rs111230027 PRIM2 AU NM_000947 exon12 c.289115-14insT 0.4995 0.4967 Uncertain 6_57472476_T->C 6 57472476 57472476 T C snp 1867.77 0/1 99 225 144 81 0.36 intronic rs9382819 PRIM2 AU NM_000947 exon12 c.289198+35T>C 0.4995 0.4987 Uncertain 6_57472488_C->T 6 57472488 57472488 C T snp 1845.77 0/1 99 211 135 76 0.36 intronic rs9382820 PRIM2 AU NM_000947 exon12 c.289198+47C>T 0.4990 0.4989 Uncertain 6_57472495_C->G 6 57472495 57472495 C G snp 1270.77 0/1 99 194 134 60 0.31 intronic rs62400219 PRIM2 AU NM_000947 exon12 c.289198+54C>G Uncertain 6_57472533_T->C 6 57472533 57472533 T C snp 1619.77 0/1 99 91 33 58 0.64 intronic rs9367767 PRIM2 AU NM_000947 exon12 c.289198+92T>C Uncertain 6_57472534_T->C 6 57472534 57472534 T C snp 673.77 0/1 99 89 62 27 0.3 intronic rs74369127 PRIM2 AU NM_000947 exon12 c.289198+93T>C Uncertain 6_57498894_G->A 6 57498894 57498894 G A snp 1232.77 0/1 99 75 25 50 0.67 intronic rs3846934 PRIM2 AU NM_000947 exon13 c.315723-72G>A Uncertain 6_57498944_G->C 6 57498944 57498944 G C snp 1861.77 0/1 99 121 45 76 0.63 intronic rs3846935 PRIM2 AU NM_000947 exon13 c.315723-22G>C 0.5026 0.5046 Uncertain 6_57499042_-->T 6 57499042 57499042 - T indel 668.73 0/1 99 118 73 45 0.38 intronic rs397693584 PRIM2 AU NM_000947 exon13 c.315792+7insT 0.456262 0.4933 0.4867 Uncertain 6_57499171_T->C 6 57499171 57499171 T C snp 110.77 0/1 99 8 4 4 0.5 intronic rs3846936 PRIM2 AU NM_000947 exon13 c.315792+136T>C Uncertain 6_57499188_C->T 6 57499188 57499188 C T snp 77.77 0/1 63 6 2 4 0.67 intronic rs2151627 PRIM2 AU NM_000947 exon13 c.315792+153C>T Uncertain 6_57512340_C->T 6 57512340 57512340 C T snp 228.77 0/1 99 11 4 7 0.64 intronic rs4364484 PRIM2 AU NM_000947 exon14 c.329228-131C>T Uncertain 6_57512352_A->T 6 57512352 57512352 A T snp 137.77 0/1 99 16 11 5 0.31 intronic rs5001077 PRIM2 AU NM_000947 exon14 c.329228-119A>T Uncertain 6_57512439_T->C 6 57512439 57512439 T C snp 1246.77 0/1 99 137 89 48 0.35 intronic rs4294006 PRIM2 AU NM_000947 exon14 c.329228-32T>C 0.5000 0.5011 Uncertain 6_57512476_G->A 6 57512476 57512476 G A snp 5014.77 0/1 99 250 85 165 0.66 exonic rs4307164 PRIM2 AU unknown 0.5003 0.5024 Uncertain 6_57512510_T->G 6 57512510 57512510 T G snp 8197.77 1/1 99 250 1 249 1.0 exonic rs4294007 PRIM2 AU unknown 0.629193 0.4514 0.6987 0.6188 Uncertain 6_57512529_C->A 6 57512529 57512529 C A snp 2278.77 0/1 99 250 164 86 0.34 exonic rs5001076 PRIM2 AU unknown 0.358161 0.4992 0.4929 Uncertain 6_57512565_T->C 6 57512565 57512565 T C snp 4780.77 0/1 99 249 93 156 0.63 exonic rs4294008 PRIM2 AU unknown 0.5002 0.5029 Uncertain 6_57512678_G->A 6 57512678 57512678 G A snp 4380.77 0/1 99 242 86 156 0.64 exonic rs4398719 PRIM2 AU unknown 0.5002 0.5017 Uncertain 6_57512711_G->A 6 57512711 57512711 G A snp 2078.77 0/1 99 212 76 136 0.64 UTR3 rs5001484 PRIM2 AU 0.1194 0.1272 Uncertain 6_57512718_T->A 6 57512718 57512718 T A snp 1545.77 0/1 99 206 144 62 0.3 UTR3 rs5001483 PRIM2 AU 0.4995 0.4962 Uncertain 6_57512775_T->G 6 57512775 57512775 T G snp 1321.77 0/1 99 62 23 39 0.63 UTR3 rs7773110 PRIM2 AU Uncertain 6_57512779_G->T 6 57512779 57512779 G T snp 1030.77 0/1 99 52 19 33 0.63 UTR3 rs76296076 PRIM2 AU Uncertain 6_62390916_T->C 6 62390916 62390916 T C snp 1012.77 0/1 99 89 41 48 0.54 exonic rs1204114 KHDRBS2 AU synonymous SNV NM_152688 exon9 c.A1002G p.Q334Q 0.610024 0.6974 0.603260 0.6707 0.6570 Uncertain 6_62442604_A->G 6 62442604 62442604 A G snp 3487.77 0/1 99 250 116 134 0.54 exonic rs10484690 KHDRBS2 AU synonymous SNV NM_152688 exon7 c.T876C p.Y292Y 0.390775 0.3046 0.395817 0.3326 0.3445 Uncertain 6_62523887_-->A 6 62523887 62523887 - A indel 2098.73 0/1 99 187 90 97 0.52 intronic rs35068148 KHDRBS2 AU NM_152688 exon4 c.213672-80652insA 0.202276 0.1835 0.3278 0.1591 Uncertain 6_62526443_C->T 6 62526443 62526443 C T snp 831.77 1/1 60 29 0 29 1.0 intronic rs1005815 KHDRBS2 AU NM_152688 exon4 c.213672-78096C>T 0.628794 0.4831 Uncertain 6_62757987_C->T 6 62757987 62757987 C T snp 920.77 1/1 69 25 0 25 1.0 intronic rs9346001 KHDRBS2 AU NM_152688 exon7 c.367032+88C>T 0.80611 0.873 Uncertain 6_62887031_C->T 6 62887031 62887031 C T snp 229.84 1/1 18 8 0 8 1.0 intronic rs9346218 KHDRBS2 AU NM_152688 exon8 c.496222-58C>T 0.589856 0.5923 Uncertain 6_62887099_C->T 6 62887099 62887099 C T snp 869.77 1/1 63 33 0 33 1.0 exonic rs6921170 KHDRBS2 AU synonymous SNV NM_152688 exon2 c.G210A p.Q70Q 0.592452 0.5923 0.618615 0.5928 0.5659 Uncertain 6_63921361_A->G 6 63921361 63921361 A G snp 136.03 1/1 12 4 0 4 1.0 intergenic rs4710420 KHDRBS2 AU 0.997604 1 Uncertain 6_64415822_G->A 6 64415822 64415822 G A snp 494.77 0/1 99 24 9 15 0.63 intronic rs79019817 PHF3 AU NM_001290259 exon13 c.25998-96G>A 0.00698882 0.0317 Uncertain 6_64455003_T->C 6 64455003 64455003 T C snp 185.77 0/1 99 16 9 7 0.44 intronic rs144500139 EYS AU NM_001292009 exon3 c.21377+3135T>C 0.00139776 0.0069 Uncertain 6_64574266_A->T 6 64574266 64574266 A T snp 429.77 0/1 99 71 50 21 0.3 intronic rs139056492 EYS AU NM_001142800 exon8 c.143760+15A>T 0.00339457 0.0169 0.0007 0.0257 Uncertain 6_65016978_GA->- 6 65016978 65016979 GA - indel 1018.73 1/1 75 31 0 31 1.0 splicing rs35395170 EYS AU NM_001142800 exon14 c.586484+3_586484+4delGA 0.674121 0.5179 0.5394 0.5141 ID=COSM1445573;OCCURENCE=14(large_intestine) Pathogenic 6_65098768_A->G 6 65098768 65098768 A G snp 2929.77 1/1 99 98 1 97 0.99 intronic rs587278 EYS AU NM_001142800 exon15 c.668242+35A>G 0.708067 0.5407 0.735436 0.7179 0.5526 Uncertain 6_65149347_G->A 6 65149347 65149347 G A snp 46.77 0/1 33 4 1 3 0.75 intronic rs3857528 EYS AU NM_001142800 exon17 c.718754+102G>A 0.0561102 0.119 Uncertain 6_65299985_A->C 6 65299985 65299985 A C snp 325.77 0/1 99 24 13 11 0.46 intronic rs17217966 EYS AU NM_001142800 exon18 c.869624-130A>C 0.0938498 0.1567 Uncertain 6_65300143_G->C 6 65300143 65300143 G C snp 2929.77 0/1 99 233 116 117 0.5 exonic rs16895517 EYS AU nonsynonymous SNV NM_001142800 exon26 c.C5617G p.L1873V 0.091254 0.1567 0.106001 0.1097 0.1469 0.37 T 0.000 P -1.119 T 0.001 T 0.001 T CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter|criteria_provided\x2c_single_submitter;CLNACC=RCV000079543.3|RCV000124940.1;CLNDSDB=MedGen|MedGen;CLNDSDBID=CN169374|CN221809 Pathogenic 6_65301167_C->T 6 65301167 65301167 C T snp 2083.77 0/1 99 164 77 87 0.53 exonic rs62415825 EYS AU synonymous SNV NM_001142800 exon26 c.G4593A p.E1531E 0.0938498 0.1567 0.108238 0.1034 0.1447 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter|criteria_provided\x2c_single_submitter;CLNACC=RCV000079540.3|RCV000124937.1;CLNDSDB=MedGen|MedGen;CLNDSDBID=CN169374|CN221809 Uncertain 6_65301211_T->C 6 65301211 65301211 T C snp 1602.77 0/1 99 142 72 70 0.49 exonic rs62415826 EYS AU nonsynonymous SNV NM_001142800 exon26 c.A4549G p.S1517G 0.0938498 0.1567 0.108457 0.1032 0.1447 0.38 T 0.0 P -1.130 T 0.001 T 0.0 T CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter|criteria_provided\x2c_single_submitter;CLNACC=RCV000079539.3|RCV000124936.1;CLNDSDB=MedGen|MedGen;CLNDSDBID=CN169374|CN221809 Pathogenic 6_65301217_G->A 6 65301217 65301217 G A snp 1669.77 0/1 99 139 70 69 0.5 exonic rs62415827 EYS AU nonsynonymous SNV NM_001142800 exon26 c.C4543T p.R1515W 0.0938498 0.1567 0.108457 0.1032 0.1447 0 D 0.0 P -0.753 T 0.998 D 0.731 D CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter|criteria_provided\x2c_single_submitter;CLNACC=RCV000079538.3|RCV000124935.1;CLNDSDB=MedGen|MedGen;CLNDSDBID=CN169374|CN221809 Pathogenic 6_65301408_A->G 6 65301408 65301408 A G snp 1908.77 0/1 99 156 81 75 0.48 exonic rs62415828 EYS AU nonsynonymous SNV NM_001142800 exon26 c.T4352C p.I1451T 0.0940495 0.1567 0.108629 0.1036 0.1456 1 T 0.000 P -1.071 T 0.0 T 0.0 T CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter|criteria_provided\x2c_single_submitter;CLNACC=RCV000079537.3|RCV000124934.1;CLNDSDB=MedGen|MedGen;CLNDSDBID=CN169374|CN221809 Pathogenic 6_65301504_A->G 6 65301504 65301504 A G snp 5763.77 1/1 99 196 2 194 0.99 exonic rs624851 EYS AU nonsynonymous SNV NM_001142800 exon26 c.T4256C p.L1419S 0.78155 0.6488 0.774420 0.7470 0.6424 0.24 T 0.000 P -1.120 T 0.01 T 0.015 T CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter|criteria_provided\x2c_single_submitter;CLNACC=RCV000079536.3|RCV000124933.1;CLNDSDB=MedGen|MedGen;CLNDSDBID=CN169374|CN221809 Pathogenic 6_65301679_T->C 6 65301679 65301679 T C snp 3281.77 0/1 99 249 125 124 0.5 exonic rs17403955 EYS AU nonsynonymous SNV NM_001142800 exon26 c.A4081G p.I1361V 0.0938498 0.1567 0.108457 0.1034 0.1447 0.29 T 0.0 P -1.082 T 0.001 T 0.003 T CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter|criteria_provided\x2c_single_submitter;CLNACC=RCV000079535.3|RCV000124931.1;CLNDSDB=MedGen|MedGen;CLNDSDBID=CN169374|CN221809 Pathogenic 6_65301734_G->A 6 65301734 65301734 G A snp 3246.77 0/1 99 250 126 124 0.5 exonic rs12663619 EYS AU synonymous SNV NM_001142800 exon26 c.C4026T p.S1342S 0.0938498 0.1567 0.108410 0.1036 0.1447 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter|criteria_provided\x2c_single_submitter;CLNACC=RCV000079534.3|RCV000124930.1;CLNDSDB=MedGen|MedGen;CLNDSDBID=CN169374|CN221809 Uncertain 6_65301787_G->C 6 65301787 65301787 G C snp 2717.77 0/1 99 249 137 112 0.45 exonic rs12663622 EYS AU nonsynonymous SNV NM_001142800 exon26 c.C3973G p.Q1325E 0.0938498 0.1567 0.108457 0.1051 0.1440 0.68 T 0.0 P -1.120 T 0.0 T 0.0 T CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter|criteria_provided\x2c_single_submitter;CLNACC=RCV000079533.3|RCV000124929.1;CLNDSDB=MedGen|MedGen;CLNDSDBID=CN169374|CN221809 Pathogenic 6_65301824_T->C 6 65301824 65301824 T C snp 2741.77 0/1 99 235 122 113 0.48 exonic rs12662610 EYS AU synonymous SNV NM_001142800 exon26 c.A3936G p.T1312T 0.0966454 0.1567 0.110429 0.1143 0.1466 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter|criteria_provided\x2c_single_submitter;CLNACC=RCV000079532.3|RCV000124928.1;CLNDSDB=MedGen|MedGen;CLNDSDBID=CN169374|CN221809 Uncertain 6_65301854_G->A 6 65301854 65301854 G A snp 2123.77 0/1 99 200 113 87 0.43 exonic rs12663916 EYS AU synonymous SNV NM_001142800 exon26 c.C3906T p.H1302H 0.0938498 0.1567 0.108457 0.1114 0.1543 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter|criteria_provided\x2c_single_submitter;CLNACC=RCV000079531.3|RCV000124927.1;CLNDSDB=MedGen|MedGen;CLNDSDBID=CN169374|CN221809 Uncertain 6_65301974_G->C 6 65301974 65301974 G C snp 358.77 0/1 99 26 15 11 0.42 intronic rs12663927 EYS AU NM_001142800 exon18 c.871391+92G>C 0.0938498 0.1558 Uncertain 6_65302877_A->T 6 65302877 65302877 A T snp 44.77 0/1 31 3 1 2 0.67 intronic rs75420781 EYS AU NM_001142800 exon19 c.872518-132A>T 0.0938498 0.1567 Uncertain 6_65302898_A->G 6 65302898 65302898 A G snp 117.85 0/1 17 6 2 4 0.67 intronic rs16895524 EYS AU NM_001142800 exon19 c.872518-111A>G 0.0938498 0.1567 Uncertain 6_65302916_A->- 6 65302916 65302916 A - indel 352.73 1/1 39 13 0 13 1.0 intronic rs11331907 EYS AU NM_001142800 exon19 c.872518-93delA 0.760383 0.6528 Uncertain 6_65302988_TATCT->- 6 65302988 65302992 TATCT - indel 3656.73 0/1 99 101 51 50 0.5 intronic rs139235690 EYS AU NM_001142800 exon19 c.872518-21_872518-17delTATCT 0.0910543 0.1567 0.086751 0.1013 0.1495 Uncertain 6_65303100_T->C 6 65303100 65303100 T C snp 2606.77 0/1 99 238 124 114 0.48 exonic rs17404123 EYS AU nonsynonymous SNV NM_001142800 exon25 c.A3787G p.I1263V 0.0938498 0.1567 0.108410 0.1012 0.1447 0.67 T 0.000 P -1.115 T 0.0 T 0.0 T CLINSIG=non-pathogenic;CLNDBN=not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000124926.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Pathogenic 6_65525121_C->T 6 65525121 65525121 C T snp 1172.77 0/1 99 99 51 48 0.48 intronic rs1390272 EYS AU NM_001142800 exon22 c.1092979+1651C>T 0.464856 0.494 0.459493 0.5562 0.5445 Uncertain 6_65596759_G->A 6 65596759 65596759 G A snp 988.77 1/1 72 28 0 28 1.0 intronic rs7743515 EYS AU NM_001142800 exon25 c.1166244+24G>A 0.84345 0.8681 0.833041 0.8292 0.8422 Uncertain 6_65611952_-->ATTA 6 65611952 65611952 - ATTA indel 802.73 0/1 99 22 9 13 0.59 intronic rs59518422 EYS AU NM_001142800 exon26 c.1181514-53insATTA 0.700679 0.5585 Uncertain 6_65655883_C->T 6 65655883 65655883 C T snp 669.77 1/1 51 18 0 18 1.0 intronic rs9453115 EYS AU NM_001142800 exon29 c.1225316+76C>T 0.394768 0.3829 Uncertain 6_66005740_-->A 6 66005740 66005740 - A indel 1315.73 1/1 99 49 0 49 1.0 intronic rs35045551 EYS AU NM_001142800 exon32 c.1575264-15insA 0.616014 0.9087 0.4891 0.7063 Uncertain 6_66005888_C->T 6 66005888 66005888 C T snp 5477.77 1/1 99 209 0 209 1.0 exonic rs9342464 EYS AU nonsynonymous SNV NM_001142800 exon12 c.G1891A p.G631S 0.595048 0.8948 0.497591 0.5798 0.8866 0.01 T 0.0 P -1.089 T 0.0 T 0.001 T CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_provided|not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter|criteria_provided\x2c_single_submitter;CLNACC=RCV000124952.1|RCV000153215.2;CLNDSDB=MedGen|MedGen;CLNDSDBID=CN221809|CN169374 Pathogenic 6_66005970_G->A 6 66005970 66005970 G A snp 2920.77 1/1 99 97 1 96 0.99 exonic rs9345601 EYS AU synonymous SNV NM_001142800 exon12 c.C1809T p.V603V 0.594848 0.8948 0.497590 0.5811 0.8875 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_provided|not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter|criteria_provided\x2c_single_submitter;CLNACC=RCV000124951.1|RCV000153216.2;CLNDSDB=MedGen|MedGen;CLNDSDBID=CN221809|CN169374 Uncertain 6_66014572_A->G 6 66014572 66014572 A G snp 114.77 1/1 12 29 0 29 1.0 exonic rs2653988 LOC441155 AU nonsynonymous SNV NM_001271675 exon2 c.A2158G p.T720A 0.6555 1 Pathogenic 6_66045077_C->T 6 66045077 66045077 C T snp 1528.77 1/1 99 53 0 53 1.0 intronic rs1502965 EYS AU NM_001142800 exon33 c.1614548+38C>T 0.98103 1 0.982777 0.9949 1 Uncertain 6_66045118_T->C 6 66045118 66045118 T C snp 971.77 1/1 72 28 0 28 1.0 intronic rs1502964 EYS AU NM_001142800 exon33 c.1614548+79T>C 0.98123 1 Uncertain 6_66053835_T->G 6 66053835 66053835 T G snp 96.28 1/1 9 3 0 3 1.0 intronic rs1502963 EYS AU NM_001142800 exon34 c.1623439-95T>G 0.99361 1 Uncertain 6_66063248_G->A 6 66063248 66063248 G A snp 342.77 0/1 99 16 5 11 0.69 intronic rs9453265 EYS AU NM_001142800 exon35 c.1632859-102G>A 0.239417 0.2599 Uncertain 6_66063513_G->A 6 66063513 66063513 G A snp 1468.77 0/1 99 107 49 58 0.54 splicing rs1936439 EYS AU NM_001142800 exon35 c.1633019+3G>A 0.651158 0.6349 0.681455 0.6746 0.5979 CLINSIG=non-pathogenic;CLNDBN=not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000124948.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Pathogenic 6_66112409_A->G 6 66112409 66112409 A G snp 537.77 0/1 99 36 13 23 0.64 exonic rs974110 EYS AU synonymous SNV NM_001142800 exon7 c.T1146C p.N382N 0.50599 0.4554 0.528206 0.5165 0.4469 CLINSIG=non-pathogenic;CLNDBN=not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000124947.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Uncertain 6_66115281_-->AA 6 66115281 66115281 - AA indel 605.73 0/1 99 56 21 35 0.63 intronic rs34154043 EYS AU NM_001142800 exon38 c.1684769+21insAA 0.2357 0.2535 Uncertain 6_66204945_G->A 6 66204945 66204945 G A snp 2874.77 0/1 99 225 113 112 0.5 exonic rs12193967 EYS AU nonsynonymous SNV NM_001142800 exon4 c.C359T p.T120M 0.170327 0.2411 0.160618 0.2026 0.2443 0.04 T 0.0 P -0.918 T 0.064 T 0.026 T CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_provided|not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter|criteria_provided\x2c_single_submitter;CLNACC=RCV000124946.1|RCV000153217.2;CLNDSDB=MedGen|MedGen;CLNDSDBID=CN221809|CN169374 Pathogenic 6_68599166_A->G 6 68599166 68599166 A G snp 146.77 0/1 99 15 10 5 0.33 intergenic rs9342670 SLC25A51P1 AU 0.437101 0.2143 Uncertain 6_68599169_A->T 6 68599169 68599169 A T snp 135.77 0/1 99 15 10 5 0.33 intergenic rs9342671 SLC25A51P1 AU 0.159545 0.1657 Uncertain 6_69666195_G->A 6 69666195 69666195 G A snp 554.77 0/1 99 33 9 24 0.73 intronic rs28734080 ADGRB3 AU NM_001704 exon7 c.317513+115G>A 0.346446 0.3016 Uncertain 6_69666684_A->G 6 69666684 69666684 A G snp 1423.77 1/1 99 49 0 49 1.0 exonic rs1932618 ADGRB3 AU nonsynonymous SNV NM_001704 exon8 c.A1508G p.N503S 0.905351 0.9226 0.882746 0.8942 0.9066 1 T 1.0 P -1.071 T 0.0 T 0.005 T Pathogenic 6_69666748_A->- 6 69666748 69666748 A - indel 918.73 1/1 96 39 0 39 1.0 intronic rs3215965 ADGRB3 AU NM_001704 exon8 c.318134+47delA 0.641174 0.6319 0.6509 0.6455 Uncertain 6_69724069_G->A 6 69724069 69724069 G A snp 916.77 0/1 99 65 23 42 0.65 intronic rs1336655 ADGRB3 AU NM_001704 exon12 c.375431+71G>A 0.31849 0.0357 Uncertain 6_69728522_C->T 6 69728522 69728522 C T snp 171.9 1/1 15 5 0 5 1.0 intronic rs2785573 ADGRB3 AU NM_001704 exon13 c.379824+131C>T 1 1 Uncertain 6_69758072_A->T 6 69758072 69758072 A T snp 1391.77 0/1 99 107 47 60 0.56 splicing rs3757049 ADGRB3 AU NM_001704 exon14 c.409509-4A>T 0.216054 0.6022 0.059395 0.1533 0.5700 Pathogenic 6_69759148_A->T 6 69759148 69759148 A T snp 1102.77 1/1 78 39 0 39 1.0 intronic rs618372 ADGRB3 AU NM_001704 exon15 c.410595-14A>T 0.949481 0.998 0.946858 0.9821 0.9973 Uncertain 6_69772817_C->G 6 69772817 69772817 C G snp 1881.77 0/1 99 141 69 72 0.51 intronic rs2793459 ADGRB3 AU NM_001704 exon16 c.424258-8C>G 0.595447 0.9653 0.444948 0.5895 0.9587 Uncertain 6_69786046_-->A 6 69786046 69786046 - A indel 945.73 1/1 99 44 0 44 1.0 intronic rs35445308 ADGRB3 AU NM_001704 exon17 c.437363+116insA 0.726238 0.9633 Uncertain 6_69943418_-->G 6 69943418 69943418 - G indel 5267.73 1/1 99 120 0 120 1.0 intronic rs3215840 ADGRB3 AU NM_001704 exon18 c.594741+110insG 0.825479 0.7917 Uncertain 6_70065573_T->C 6 70065573 70065573 T C snp 65.77 0/1 94 11 6 5 0.45 intronic rs148064673 ADGRB3 AU NM_001704 exon28 c.717145-139T>C 0.00199681 0.0079 Uncertain 6_70071173_G->A 6 70071173 70071173 G A snp 8357.77 1/1 99 250 0 250 1.0 exonic rs913543 ADGRB3 AU synonymous SNV NM_001704 exon29 c.G4008A p.P1336P 0.486222 0.8304 0.368118 0.4824 0.8143 Uncertain 6_70386320_C->T 6 70386320 70386320 C T snp 896.77 0/1 99 101 61 40 0.4 intronic rs3214021 LMBRD1 AR NM_018368 exon2 c.292-21C>T 0.409145 0.5645 0.346455 0.4049 0.5474 Uncertain 6_70407465_A->T 6 70407465 70407465 A T snp 458.77 0/1 99 33 16 17 0.52 exonic rs12648 LMBRD1 AR nonsynonymous SNV NM_018368 exon14 c.T1407A p.D469E 0.384784 0.5645 0.316623 0.3920 0.5460 0.94 T 0.997 P -0.921 T 0.013 T 0.009 T CLINSIG=non-pathogenic;CLNDBN=not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000126632.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Pathogenic 6_70411157_G->A 6 70411157 70411157 G A snp 56.74 1/1 6 2 0 2 1.0 intronic rs2445969 LMBRD1 AR NM_018368 exon6 c.25285-177G>A 0.877596 0.9534 Uncertain 6_70423739_A->G 6 70423739 70423739 A G snp 158.77 0/1 99 12 5 7 0.58 intronic rs2305837 LMBRD1 AR NM_018368 exon8 c.37640+50A>G 0.407748 0.5645 0.344467 0.4034 0.5507 Uncertain 6_70447993_G->T 6 70447993 70447993 G T snp 190.77 0/1 99 24 14 10 0.42 intronic rs45559535 LMBRD1 AR NM_018368 exon10 c.61858+86G>T 0.385184 0.5645 Uncertain 6_70448033_C->T 6 70448033 70448033 C T snp 79.77 0/1 99 11 6 5 0.45 intronic rs12661224 LMBRD1 AR NM_018368 exon10 c.61858+126C>T 0.385184 0.5645 Uncertain 6_70490511_A->G 6 70490511 70490511 A G snp 159.77 0/1 57 7 2 5 0.71 intronic rs9346353 LMBRD1 AR NM_018368 exon14 c.104397+65A>G 0.386981 0.5655 0.326106 Uncertain 6_70490528_A->G 6 70490528 70490528 A G snp 56.74 1/1 6 2 0 2 1.0 intronic rs9346354 LMBRD1 AR NM_018368 exon14 c.104397+82A>G 0.409145 0.5655 Uncertain 6_70500120_G->A 6 70500120 70500120 G A snp 86.77 0/1 30 4 1 3 0.75 intronic rs2125024 LMBRD1 AR NM_018368 exon15 c.114138-67G>A 0.404353 0.5655 Uncertain 6_70500451_C->A 6 70500451 70500451 C A snp 1255.77 0/1 99 91 43 48 0.53 intronic rs2305838 LMBRD1 AR NM_018368 exon15 c.114315+87C>A 0.404353 0.5655 Uncertain 6_70500463_T->G 6 70500463 70500463 T G snp 924.77 0/1 99 66 33 33 0.5 intronic rs2305839 LMBRD1 AR NM_018368 exon15 c.114315+99T>G 0.404353 0.5655 Uncertain 6_70589723_A->G 6 70589723 70589723 A G snp 116.77 0/1 60 6 2 4 0.67 intronic rs2487439 COL19A1 AU NM_001858 exon2 c.91+173A>G 0.0860623 0.001 Uncertain 6_70642660_C->T 6 70642660 70642660 C T snp 242.77 0/1 99 13 4 9 0.69 intronic rs2345783 COL19A1 AU NM_001858 exon7 c.53215-14C>T 0.0878594 0.003 0.114970 0.1286 0.0005 Uncertain 6_70733547_C->G 6 70733547 70733547 C G snp 472.77 0/1 99 49 27 22 0.45 exonic rs2273426 COL19A1 AU nonsynonymous SNV NM_001858 exon12 c.C1055G p.A352G 0.282748 0.2986 0.226972 0.1718 0.2988 1 T 1.0 P -0.997 T 0.0 T 0.0 T Pathogenic 6_70744145_A->G 6 70744145 70744145 A G snp 2970.77 0/1 99 250 123 127 0.51 exonic rs138001242 COL19A1 AU synonymous SNV NM_001858 exon13 c.A1089G p.K363K 0.00259585 0.0079 0.000384 0.0035 0.0122 Uncertain 6_70744264_G->C 6 70744264 70744264 G C snp 2330.77 0/1 99 178 85 93 0.52 intronic rs7764390 COL19A1 AU NM_001858 exon13 c.154731+74G>C 0.160743 0.003 0.321945 Uncertain 6_70744401_G->T 6 70744401 70744401 G T snp 135.03 1/1 12 4 0 4 1.0 intronic rs7764576 COL19A1 AU NM_001858 exon13 c.154731+211G>T 0.992212 1 Uncertain 6_70812123_A->G 6 70812123 70812123 A G snp 1261.77 0/1 99 114 52 62 0.54 intronic rs7772672 COL19A1 AU NM_001858 exon16 c.222655+9A>G 0.845647 0.5486 0.952560 0.8846 0.5387 Uncertain 6_70847385_C->T 6 70847385 70847385 C T snp 79.77 0/1 99 10 6 4 0.4 intronic rs9446206 COL19A1 AU NM_001858 exon19 c.258117-191C>T 0.157149 0.1736 Uncertain 6_70852073_C->T 6 70852073 70852073 C T snp 267.77 0/1 99 13 4 9 0.69 intronic rs79063536 COL19A1 AU NM_001858 exon22 c.262509+105C>T 0.0255591 0.0079 Uncertain 6_70852493_A->G 6 70852493 70852493 A G snp 122.77 0/1 66 6 2 4 0.67 intronic rs9342783 COL19A1 AU NM_001858 exon23 c.263199-165A>G 0.479034 0.3115 Uncertain 6_70852607_-->T 6 70852607 70852607 - T indel 682.73 0/1 99 70 35 35 0.5 intronic rs3831024 COL19A1 AU NM_001858 exon23 c.263199-51insT 0.473842 0.3105 Uncertain 6_70852841_A->T 6 70852841 70852841 A T snp 107.77 0/1 99 10 6 4 0.4 intronic rs2296013 COL19A1 AU NM_001858 exon23 c.263253+129A>T 0.478834 0.3115 Uncertain 6_70854183_A->G 6 70854183 70854183 A G snp 973.77 0/1 99 88 47 41 0.47 intronic rs9364074 COL19A1 AU NM_001858 exon24 c.264696+28A>G 0.478834 0.3115 0.488159 0.4540 0.3172 Uncertain 6_70854209_AG->- 6 70854209 70854210 AG - indel 1924.73 0/1 99 108 61 47 0.44 intronic rs572296290 COL19A1 AU NM_001858 exon24 c.264696+54_264696+55delAG 0.478834 0.3115 0.487857 Uncertain 6_70854924_-->T 6 70854924 70854924 - T indel 616.73 0/1 99 33 9 24 0.73 intronic rs3841703 COL19A1 AU NM_001858 exon25 c.265440+25insT 0.479433 0.3115 0.486736 0.4995 0.3422 Uncertain 6_70856657_T->C 6 70856657 70856657 T C snp 1038.77 0/1 99 84 42 42 0.5 intronic rs74352237 COL19A1 AU NM_001858 exon27 c.267244-46T>C 0.0255591 0.0079 0.026142 0.0422 0.0050 Uncertain 6_70856658_G->A 6 70856658 70856658 G A snp 1033.77 0/1 99 84 42 42 0.5 intronic rs75208940 COL19A1 AU NM_001858 exon27 c.267244-45G>A 0.0255591 0.0079 0.026526 0.0422 0.0050 Uncertain 6_70861135_T->G 6 70861135 70861135 T G snp 83.77 0/1 63 6 2 4 0.67 intronic rs3818327 COL19A1 AU NM_001858 exon31 c.271829-153T>G 0.53155 0.3145 Uncertain 6_70866421_T->C 6 70866421 70866421 T C snp 261.77 0/1 99 21 11 10 0.48 intronic rs3736843 COL19A1 AU NM_001858 exon34 c.277102-140T>C 0.538938 0.3155 Uncertain 6_70866609_C->T 6 70866609 70866609 C T snp 804.77 0/1 99 80 44 36 0.45 exonic rs2229799 COL19A1 AU synonymous SNV NM_001858 exon34 c.C2286T p.G762G 0.514776 0.3145 0.534676 0.4883 0.3229 Uncertain 6_70871945_A->G 6 70871945 70871945 A G snp 1196.77 0/1 99 95 45 50 0.53 intronic rs117764401 COL19A1 AU NM_001858 exon35 c.282386+100A>G 0.0245607 0.0069 Uncertain 6_70875976_T->G 6 70875976 70875976 T G snp 1067.77 1/1 78 40 0 40 1.0 intronic rs802174 COL19A1 AU NM_001858 exon37 c.286418+99T>G 0.747005 0.5774 Uncertain 6_70876046_T->C 6 70876046 70876046 T C snp 267.8 1/1 21 7 0 7 1.0 intronic rs802175 COL19A1 AU NM_001858 exon37 c.286418+169T>C 0.747005 0.5774 Uncertain 6_70878156_A->G 6 70878156 70878156 A G snp 570.77 0/1 99 58 31 27 0.47 intronic rs62421668 COL19A1 AU NM_001858 exon39 c.288648+49A>G 0.189297 0.1875 0.216285 0.2315 0.2230 Uncertain 6_70878703_G->A 6 70878703 70878703 G A snp 137.77 0/1 99 17 12 5 0.29 intronic rs2296008 COL19A1 AU NM_001858 exon40 c.289114+130G>A 0.0241613 0.1032 Uncertain 6_70894894_C->A 6 70894894 70894894 C A snp 1279.77 0/1 99 77 26 51 0.66 intronic rs2296006 COL19A1 AU NM_001858 exon46 c.305348+87C>A 0.197284 0.1875 Uncertain 6_70897698_A->G 6 70897698 70897698 A G snp 208.77 0/1 99 24 15 9 0.38 intronic rs3749913 COL19A1 AU NM_001858 exon47 c.308319-80A>G 0.397564 0.255 Uncertain 6_70897967_G->A 6 70897967 70897967 G A snp 393.77 1/1 30 10 0 10 1.0 intronic rs3828775 COL19A1 AU NM_001858 exon47 c.308490+18G>A 0.24381 0.1944 0.290481 0.2908 0.2345 Uncertain 6_70909253_T->- 6 70909253 70909253 T - indel 328.73 0/1 32 13 2 11 0.85 intronic rs397888438 COL19A1 AU NM_001858 exon49 c.319852-58delT 0.642572 0.5694 Uncertain 6_70909535_T->A 6 70909535 70909535 T A snp 146.77 0/1 99 17 12 5 0.29 intronic rs118000302 COL19A1 AU NM_001858 exon49 c.319981+95T>A 0.0257588 0.0069 Uncertain 6_70909763_T->C 6 70909763 70909763 T C snp 31.77 0/1 60 10 7 3 0.3 intronic rs3806064 COL19A1 AU NM_001858 exon49 c.319981+323T>C 0.342053 0.1399 Uncertain 6_70916575_G->A 6 70916575 70916575 G A snp 429.77 0/1 99 36 18 18 0.5 intronic rs78546554 COL19A1 AU NM_001858 exon50 c.327145-29G>A 0.0259585 0.0069 0.042288 0.0465 0.0050 Uncertain 6_70916830_-->T 6 70916830 70916830 - T indel 432.73 0/1 99 53 25 28 0.53 intronic rs111892852 COL19A1 AU NM_001858 exon51 c.327391-20insT 0.0534 0.0055 Uncertain 6_70916888_A->C 6 70916888 70916888 A C snp 803.77 0/1 99 66 34 32 0.48 exonic rs1200576 COL19A1 AU synonymous SNV NM_001858 exon51 c.A3339C p.P1113P 0.758786 0.6974 0.757881 0.7351 0.6503 Uncertain 6_70926898_G->A 6 70926898 70926898 G A snp 1353.77 0/1 99 87 38 49 0.56 intronic rs1200569 COL9A1 AU,AD NM_078485 exon1 c.185+114G>A 0.802117 0.8224 Uncertain 6_70935654_A->G 6 70935654 70935654 A G snp 1721.77 0/1 99 179 95 84 0.47 exonic rs1135057 COL9A1 AU,AD synonymous SNV NM_001851 exon37 c.T2562C p.P854P 0.00479233 0.0023 0 Uncertain 6_70944465_A->G 6 70944465 70944465 A G snp 697.77 0/1 99 43 19 24 0.56 intronic rs12191701 COL9A1 AU,AD NM_078485 exon5 c.17897-31A>G 0.21865 0.0427 0.384822 0.3813 0.0363 Uncertain 6_70949019_A->G 6 70949019 70949019 A G snp 204.77 0/1 99 31 22 9 0.29 intronic rs9446213 COL9A1 AU,AD NM_078485 exon6 c.22390+30A>G 0.0626997 0.0079 0.084593 0.0612 0.0045 Uncertain 6_70950355_T->C 6 70950355 70950355 T C snp 80.77 0/1 99 8 5 3 0.38 intronic rs6914511 COL9A1 AU,AD NM_078485 exon7 c.23792-36T>C 0.0625 0.0069 0.083578 0.0610 0.0046 Uncertain 6_70950597_T->- 6 70950597 70950597 T - indel 448.73 0/1 99 23 9 14 0.61 intronic rs11286026 COL9A1 AU,AD NM_078485 exon7 c.23837+161delT 0.0625 0.0069 Uncertain 6_70950598_T->C 6 70950598 70950598 T C snp 345.77 0/1 99 22 9 13 0.59 intronic rs571510344 COL9A1 AU,AD NM_078485 exon7 c.23837+162T>C 0.0625 0.0069 Uncertain 6_70950945_T->C 6 70950945 70950945 T C snp 266.77 0/1 99 18 8 10 0.56 intronic rs73749919 COL9A1 AU,AD NM_078485 exon8 c.24522-176T>C 0.0852636 0.0069 Uncertain 6_70951240_A->G 6 70951240 70951240 A G snp 547.77 0/1 99 35 12 23 0.66 intronic rs9455013 COL9A1 AU,AD NM_078485 exon8 c.24558+83A>G 0.0607029 0.0069 0.079063 Uncertain 6_70962044_A->G 6 70962044 70962044 A G snp 816.77 0/1 99 91 55 36 0.4 intronic rs519068 COL9A1 AU,AD NM_078485 exon12 c.35419+26A>G 0.403355 0.2986 0.500231 0.4485 0.2895 Uncertain 6_70965125_A->C 6 70965125 70965125 A C snp 1408.77 1/1 99 49 0 49 1.0 intronic rs633762 COL9A1 AU,AD NM_078485 exon17 c.38494+32A>C 0.8752 0.9395 0.837229 0.8084 0.9233 Uncertain 6_70970299_C->T 6 70970299 70970299 C T snp 866.77 0/1 99 67 29 38 0.57 intronic rs2024730 COL9A1 AU,AD NM_078485 exon19 c.43760-60C>T 0.328674 0.1825 0.446781 Uncertain 6_70979125_A->G 6 70979125 70979125 A G snp 229.84 1/1 18 8 0 8 1.0 intronic rs551470 COL9A1 AU,AD NM_078485 exon23 c.52736-210A>G 0.981829 1 Uncertain 6_70979193_C->T 6 70979193 70979193 C T snp 286.77 0/1 99 31 19 12 0.39 intronic rs550675 COL9A1 AU,AD NM_078485 exon23 c.52736-142C>T 0.408147 0.2937 Uncertain 6_70981827_G->T 6 70981827 70981827 G T snp 466.77 0/1 99 46 26 20 0.43 intronic rs77357454 COL9A1 AU,AD NM_078485 exon26 c.55192+36G>T 0.0225639 0.0069 0.046986 0.0499 0.0031 Uncertain 6_70984252_T->- 6 70984252 70984252 T - indel 150.73 0/1 99 11 5 6 0.55 intronic rs201080821 COL9A1 AU,AD NM_078485 exon28 c.57822-169delT 0.0225639 0.0069 Uncertain 6_70984436_A->G 6 70984436 70984436 A G snp 1117.77 0/1 99 123 71 52 0.42 exonic rs592121 COL9A1 AU,AD nonsynonymous SNV NM_001851 exon11 c.T1015C p.S339P 0.482428 0.3145 0.479779 0.4065 0.3442 0.92 T 0.004 P -0.902 T 0.001 T 0.0 T Pathogenic 6_70984562_T->C 6 70984562 70984562 T C snp 385.77 0/1 99 37 20 17 0.46 intronic rs603304 COL9A1 AU,AD NM_078485 exon28 c.57876+87T>C 0.553714 0.4494 Uncertain 6_70989703_A->G 6 70989703 70989703 A G snp 3060.77 0/1 99 249 127 122 0.49 intronic rs3806099 COL9A1 AU,AD NM_078485 exon29 c.63915-811A>G 0.497005 0.3135 0.4265 0.3427 Uncertain 6_70991080_G->A 6 70991080 70991080 G A snp 497.77 0/1 99 49 28 21 0.43 intronic rs117215769 COL9A1 AU,AD NM_078485 exon31 c.64493-12G>A 0.023762 0.0069 0.046748 0.0467 0.0035 Uncertain 6_71011831_C->T 6 71011831 71011831 C T snp 815.77 0/1 99 53 18 35 0.66 intronic rs2242589 COL9A1 AU,AD NM_001851 exon37 c.85178+54C>T 0.459265 0.5159 0.460359 Uncertain 6_71137884_G->A 6 71137884 71137884 G A snp 38.77 0/1 67 5 3 2 0.4 intronic rs13202450 FAM135A AU 0.364217 0.1121 Uncertain 6_71137992_C->T 6 71137992 71137992 C T snp 276.77 0/1 99 45 31 14 0.31 intronic rs41265349 FAM135A AU 0.0898562 0.003 0.109991 Uncertain 6_71190577_A->G 6 71190577 71190577 A G snp 669.77 0/1 99 69 35 34 0.49 intronic rs2273210 FAM135A AU NM_001162529 exon7 c.52558-26A>G 0.187899 0.0863 0.205828 0.1760 0.0839 Uncertain 6_71232015_TTTATA->- 6 71232015 71232020 TTTATA - indel 498.73 0/1 99 23 16 7 0.3 intronic rs146416812 FAM135A AU NM_001162529 exon11 c.94170-200_94170-195delTTTATA 0.158746 0.0863 Uncertain 6_71233551_G->T 6 71233551 71233551 G T snp 102.77 0/1 99 9 5 4 0.44 intronic rs2295200 FAM135A AU NM_001162529 exon12 c.95624-118G>T 0.157748 0.0863 Uncertain 6_71236216_C->T 6 71236216 71236216 C T snp 2952.77 0/1 99 250 132 118 0.47 exonic rs7740873 FAM135A AU synonymous SNV NM_001162529 exon13 c.C3429T p.N1143N 0.255591 0.0893 0.276026 0.2025 0.0853 Uncertain 6_71236452_ATACACACACACACACATAC->- 6 71236452 71236471 ATACACACACACACACATAC - indel 347.73 0/1 99 13 4 9 0.69 intronic rs373718582 FAM135A AU NM_001162529 exon13 c.98356+51_98356+70delATACACACACACACACATAC 0.0077 0.0004 Uncertain 6_71238105_A->G 6 71238105 71238105 A G snp 1814.77 0/1 99 148 66 82 0.55 exonic rs2747701 FAM135A AU nonsynonymous SNV NM_001162529 exon14 c.A3725G p.D1242G 0.339257 0.5427 0.347455 0.4150 0.5388 0.04 T 1.000 P -1.098 T 0.305 T 0.157 T Pathogenic 6_71243086_TA->- 6 71243086 71243087 TA - indel 235.73 0/1 75 9 2 7 0.78 intronic rs146023593 FAM135A AU NM_001162529 exon15 c.104909+132_104909+133delTA 0.0856629 0.003 Uncertain 6_71243352_A->G 6 71243352 71243352 A G snp 310.77 0/1 99 19 7 12 0.63 intronic rs9283835 FAM135A AU NM_001162529 exon16 c.105414-107A>G 0.256589 0.0893 Uncertain 6_71247863_T->C 6 71247863 71247863 T C snp 37.77 0/1 66 4 2 2 0.5 intronic rs78525529 FAM135A AU NM_001162529 exon18 c.109948-130T>C 0.111222 0.003 Uncertain 6_71269459_C->T 6 71269459 71269459 C T snp 2953.77 0/1 99 250 120 130 0.52 exonic rs16869371 FAM135A AU synonymous SNV NM_001162529 exon20 c.C4383T p.P1461P 0.154952 0.0863 0.165693 0.1625 0.0840 Uncertain 6_71269632_G->A 6 71269632 71269632 G A snp 741.77 0/1 99 49 23 26 0.53 UTR3 rs16869373 FAM135A AU 0.159744 0.0863 0.169998 0.1925 0.1015 Uncertain 6_71276803_T->C 6 71276803 71276803 T C snp 223.77 0/1 99 17 8 9 0.53 intronic rs2293297 SDHAF4 AU NM_145267 exon1 c.64+96T>C 0.160144 0.0873 Uncertain 6_71289189_A->G 6 71289189 71289189 A G snp 900.77 0/1 99 113 68 45 0.4 exonic rs1048886 SDHAF4 AU nonsynonymous SNV NM_145267 exon2 c.A137G p.Q46R 0.198083 0.0833 0.214286 0.1829 0.0889 0.06 T 0.001 P -1.073 T 0.193 T 0.185 T Pathogenic 6_71298533_A->G 6 71298533 71298533 A G snp 239.77 0/1 97 11 3 8 0.73 UTR3 rs13654 SDHAF4 AU 0.351038 0.1319 Uncertain 6_71377711_C->T 6 71377711 71377711 C T snp 890.77 0/1 99 86 44 42 0.49 UTR5 rs2274972 SMAP1 AU 0.229233 0.5208 0.126717 0.1805 0.6068 Uncertain 6_71378188_A->G 6 71378188 71378188 A G snp 114.77 0/1 99 8 4 4 0.5 intronic rs781984 SMAP1 AU NM_001281439 exon1 c.118+344A>G 0.394768 0.2341 Uncertain 6_71378313_C->T 6 71378313 71378313 C T snp 857.77 0/1 99 91 54 37 0.41 UTR5 rs4707842 SMAP1 AU 0.230831 0.5248 0.0649 0.5707 Uncertain 6_71482975_G->A 6 71482975 71482975 G A snp 1007.77 1/1 72 41 0 41 1.0 intronic rs1413353 SMAP1 AU NM_001281439 exon4 c.105326-77G>A 0.895767 0.998 0.8199 0.9979 Uncertain 6_71546702_C->T 6 71546702 71546702 C T snp 293.77 0/1 99 29 13 16 0.55 exonic rs2273566 SMAP1 AU nonsynonymous SNV NM_001281439 exon6 c.C554T p.A185V 0.271965 0.5516 0.148085 0.1934 0.6048 0.32 T 1.000 P -0.962 T 0.655 T 0.093 P Pathogenic 6_71547572_A->T 6 71547572 71547572 A T snp 139.77 0/1 99 31 21 10 0.32 intronic rs7748778 SMAP1 AU NM_001281439 exon6 c.169005+841A>T 0.217452 0.4821 0.0795 0.5 0.000 P Uncertain 6_71569129_C->T 6 71569129 71569129 C T snp 652.77 0/1 99 59 33 26 0.44 intronic rs3734369 SMAP1 AU NM_001281439 exon10 c.191393+10C>T 0.136981 0.4772 0.0695 0.4876 Uncertain 6_71665473_A->G 6 71665473 71665473 A G snp 1514.77 0/1 99 128 62 66 0.52 intronic rs9455275 B3GAT2 AU NM_080742 exon4 c.94176-68A>G 0.532748 0.6448 Uncertain 6_71665986_G->A 6 71665986 71665986 G A snp 1591.77 0/1 99 142 73 69 0.49 exonic rs1574490 B3GAT2 AU synonymous SNV NM_080742 exon1 c.C147T p.G49G 0.532748 0.6448 0.475217 0.5326 0.6562 Uncertain 6_71666146_T->C 6 71666146 71666146 T C snp 498.77 0/1 99 36 12 24 0.67 UTR5 rs1320315 B3GAT2 AU 0.701278 0.7222 0.783543 0.6952 0.7211 Uncertain 6_71666227_G->A 6 71666227 71666227 G A snp 153.77 0/1 63 8 2 6 0.75 UTR5 rs9446313 B3GAT2 AU 0.531949 0.6448 Uncertain 6_72006673_C->T 6 72006673 72006673 C T snp 93.77 0/1 99 12 8 4 0.33 intronic rs568639433 OGFRL1 AU NM_024576 exon6 c.7881+153C>T 0.000199681 Uncertain 6_72809825_C->T 6 72809825 72809825 C T snp 158.78 0/1 24 7 1 6 0.86 intronic rs9360527 RIMS1 AU NM_014989 exon4 c.212963+136C>T 0.321086 0.3214 Uncertain 6_72836421_A->C 6 72836421 72836421 A C snp 678.77 1/1 51 27 0 27 1.0 intronic rs2463696 RIMS1 AU NM_014989 exon4 c.212963+26732A>C 0.986022 1 0.9995 1 Uncertain 6_72858417_TT->- 6 72858417 72858418 TT - indel 1014.73 1/1 66 55 2 53 0.96 intronic rs151080929 RIMS1 AU NM_014989 exon5 c.292551-30860_292551-30859delTT Uncertain 6_72889472_A->G 6 72889472 72889472 A G snp 2943.77 0/1 99 249 128 121 0.49 exonic rs2249021 RIMS1 AU synonymous SNV NM_014989 exon5 c.A666G p.L222L 0.751797 0.8323 0.691119 0.6762 0.8431 Uncertain 6_72889711_G->A 6 72889711 72889711 G A snp 377.77 0/1 99 33 17 16 0.48 intronic rs17725666 RIMS1 AU NM_014989 exon5 c.292892+93G>A 0.221645 0.1677 Uncertain 6_72892257_A->G 6 72892257 72892257 A G snp 640.77 1/1 48 21 0 21 1.0 exonic rs2463730 RIMS1 AU synonymous SNV NM_014989 exon6 c.A1083G p.L361L 0.974641 1 0.974348 0.9923 1 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000081688.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 6_72892383_G->A 6 72892383 72892383 G A snp 792.77 0/1 99 74 42 32 0.43 exonic rs114505309 RIMS1 AU synonymous SNV NM_014989 exon6 c.G1209A p.A403A 0.219449 0.1677 0.3877 0.3 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000081689.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 6_72945492_C->T 6 72945492 72945492 C T snp 3570.77 1/1 99 114 0 114 1.0 intronic rs2807519 RIMS1 AU NM_001168409 exon3 c.36+61C>T 0.757588 0.9861 Uncertain 6_72947774_C->T 6 72947774 72947774 C T snp 270.8 1/1 21 10 0 10 1.0 intronic rs2807525 RIMS1 AU NM_001168409 exon4 c.2230+149C>T 0.798123 0.9861 Uncertain 6_72961222_G->A 6 72961222 72961222 G A snp 50.74 1/1 6 2 0 2 1.0 intronic rs3798274 RIMS1 AU NM_001168409 exon10 c.15676+151G>A 0.850639 0.9861 Uncertain 6_72962352_A->G 6 72962352 72962352 A G snp 785.77 1/1 57 27 0 27 1.0 intronic rs9351902 RIMS1 AU NM_001168409 exon11 c.17068-111A>G 0.791933 0.9861 Uncertain 6_72968609_C->T 6 72968609 72968609 C T snp 1008.77 1/1 75 27 0 27 1.0 intronic rs6923891 RIMS1 AU NM_001168409 exon13 c.23293-79C>T 0.758187 0.9861 Uncertain 6_72984277_G->A 6 72984277 72984277 G A snp 393.77 1/1 30 13 0 13 1.0 intronic rs4504440 RIMS1 AU NM_014989 exon23 c.387409+142G>A 1 1 Uncertain 6_73332040_C->G 6 73332040 73332040 C G snp 1668.77 1/1 99 62 0 62 1.0 exonic rs3734212 KCNQ5 AU synonymous SNV NM_001160133 exon1 c.C123G p.S41S 0.458067 0.4524 0.640831 0.6828 0.5731 Uncertain 6_73516397_A->G 6 73516397 73516397 A G snp 899.77 1/1 66 25 0 25 1.0 intronic rs9446758 KCNQ5 AU NM_001160130 exon1 c.398+184082A>G 0.995607 1 Uncertain 6_73752821_T->C 6 73752821 73752821 T C snp 1718.77 0/1 99 140 63 77 0.55 intronic rs3798463 KCNQ5 AU NM_001160130 exon3 c.419868+1036T>C 0.0658946 0.25 0.0466 0.2521 0.38 T 0.0 P 0.442 D Uncertain 6_73814836_T->C 6 73814836 73814836 T C snp 260.8 1/1 21 7 0 7 1.0 intronic rs2051023 KCNQ5 AU NM_001160130 exon6 c.483062-143T>C 0.954673 0.9534 Uncertain 6_73821239_T->C 6 73821239 73821239 T C snp 4196.77 1/1 99 143 0 143 1.0 intronic rs2000205 KCNQ5 AU NM_001160130 exon7 c.489209+113T>C 0.944888 0.9534 Uncertain 6_73830423_A->G 6 73830423 73830423 A G snp 2479.77 1/1 99 84 0 84 1.0 intronic rs1891404 KCNQ5 AU NM_001160130 exon8 c.498383+123A>G 0.965455 0.9544 Uncertain 6_73933401_T->G 6 73933401 73933401 T G snp 400.77 0/1 99 44 25 19 0.43 UTR3 rs2282448 KHDC1L AU 0.112021 0.1974 Uncertain 6_73935135_G->C 6 73935135 73935135 G C snp 3177.77 0/1 99 248 126 122 0.49 UTR5 rs6927398 KHDC1L AU 0.270966 0.2659 0.309242 0.2608 0.2617 0 D 0.000 P -1.028 T Uncertain 6_73951987_T->G 6 73951987 73951987 T G snp 68.77 0/1 97 8 5 3 0.38 intronic rs6453659 KHDC1 AU NM_001251874 exon2 c.709+27T>G 0.376997 0.3016 0.354867 0.2725 0.3208 Uncertain 6_73952103_A->C 6 73952103 73952103 A C snp 1117.77 0/1 99 89 48 41 0.46 intronic rs6453660 KHDC1 AU NM_001251874 exon3 c.877-25A>C 0.345048 0.254 0.310718 0.2400 0.2544 Uncertain 6_73952109_C->A 6 73952109 73952109 C A snp 1106.77 0/1 99 92 52 40 0.43 intronic rs76146370 KHDC1 AU NM_001251874 exon3 c.877-19C>A 0.344449 0.254 0.307192 0.2397 0.2535 Uncertain 6_73952112_G->T 6 73952112 73952112 G T snp 1017.77 0/1 99 95 55 40 0.42 intronic rs79256439 KHDC1 AU NM_001251874 exon3 c.877-16G>T 0.345248 0.255 0.2393 0.2529 Uncertain 6_73952113_G->A 6 73952113 73952113 G A snp 1131.77 0/1 99 98 56 42 0.43 intronic rs74562538 KHDC1 AU NM_001251874 exon3 c.877-15G>A 0.345248 0.255 0.255456 0.2395 0.2538 Uncertain 6_73952118_A->G 6 73952118 73952118 A G snp 1230.77 0/1 99 105 60 45 0.43 intronic rs6453661 KHDC1 AU NM_001251874 exon3 c.877-10A>G 0.345248 0.255 0.298297 0.2396 0.2536 Uncertain 6_73952377_T->C 6 73952377 73952377 T C snp 218.77 0/1 99 17 9 8 0.47 intronic rs6453662 KHDC1 AU NM_001251874 exon3 c.1002+124T>C 0.333466 0.254 Uncertain 6_74019376_T->C 6 74019376 74019376 T C snp 1423.77 0/1 99 115 54 61 0.53 exonic rs16883573 KHDC1 AU nonsynonymous SNV NM_001251874 exon1 c.A62G p.Y21C 0.164137 0.1419 0.1156 0.1694 0.08 T 0.0 P -1.015 T 0.0 T 0.0 T Pathogenic 6_74072545_C->T 6 74072545 74072545 C T snp 3008.77 0/1 99 250 131 119 0.48 exonic rs147578781 KHDC3L AR synonymous SNV NM_001017361 exon1 c.C93T p.F31F 0.00359425 0.0159 0.000077 0.0016 0.0081 Uncertain 6_74073531_C->G 6 74073531 74073531 C G snp 4275.77 1/1 99 165 0 165 1.0 exonic rs561930 KHDC3L AR nonsynonymous SNV NM_001017361 exon3 c.C602G p.A201G 0.488419 0.5397 0.485622 0.5198 0.5407 0.05 T 0.0 P -1.032 T 0.997 D 0.894 D Pathogenic 6_74079024_A->G 6 74079024 74079024 A G snp 4314.77 1/1 99 162 0 162 1.0 exonic rs496530 OOEP AU nonsynonymous SNV NM_001080507 exon2 c.T275C p.V92A 0.511382 0.5933 0.488045 0.5318 0.5842 1 T 0.0 P -0.948 T 0.154 T 0.032 T Pathogenic 6_74079041_A->C 6 74079041 74079041 A C snp 4466.77 1/1 99 166 0 166 1.0 exonic rs497243 OOEP AU synonymous SNV NM_001080507 exon2 c.T258G p.V86V 0.971645 1 0.977474 0.9932 1 Uncertain 6_74104557_C->G 6 74104557 74104557 C G snp 2101.77 1/1 99 72 0 72 1.0 UTR5 rs558198 DDX43 AU 0.647165 0.7698 Uncertain 6_74115935_-->GG 6 74115935 74115935 - GG indel 722.73 1/1 45 15 0 15 1.0 intronic rs386407554 DDX43 AU NM_018665 exon7 c.11458-151insGG 0.801118 0.8948 Uncertain 6_74119084_T->C 6 74119084 74119084 T C snp 1621.77 1/1 99 55 0 55 1.0 intronic rs4708053 DDX43 AU NM_018665 exon10 c.14443+13T>C 0.935703 1 0.935953 0.9813 1 Uncertain 6_74125875_A->G 6 74125875 74125875 A G snp 2256.77 1/1 85 90 4 86 0.96 exonic rs311686 DDX43 AU nonsynonymous SNV NM_018665 exon16 c.A1873G p.K625E 0.490615 0.5446 0.485161 0.5181 0.5436 0.36 T 1.000 P -0.997 T 0.002 T 0.005 T Pathogenic 6_74125888_A->G 6 74125888 74125888 A G snp 2001.77 1/1 30 85 4 81 0.95 exonic rs311685 DDX43 AU nonsynonymous SNV NM_018665 exon16 c.A1886G p.Q629R 0.490415 0.5456 0.485161 0.5181 0.5437 0.45 T 0.0 P -0.926 T 0.002 T 0.003 T Pathogenic 6_74126084_C->T 6 74126084 74126084 C T snp 48.74 1/1 6 2 0 2 1.0 intronic rs311684 DDX43 AU NM_018665 exon16 c.21346+110C>T 0.58127 0.7073 Uncertain 6_74134849_T->C 6 74134849 74134849 T C snp 205.77 0/1 97 12 3 9 0.75 downstream rs311679 MB21D1 AU 0.473442 0.5635 Uncertain 6_74135016_C->T 6 74135016 74135016 C T snp 2687.77 1/1 99 102 1 101 0.99 exonic rs311678 MB21D1 AU synonymous SNV NM_138441 exon5 c.G1503A p.K501K 0.718051 0.7262 0.719668 0.7216 0.7106 Uncertain 6_74155291_C->T 6 74155291 74155291 C T snp 349.77 0/1 99 25 10 15 0.6 exonic rs145562681 MB21D1 AU synonymous SNV NM_138441 exon2 c.G837A p.K279K 0.00459265 0.0188 0.000077 0.0025 0.0197 Uncertain 6_74155491_T->C 6 74155491 74155491 T C snp 670.77 1/1 48 26 0 26 1.0 intronic rs2985419 MB21D1 AU NM_138441 exon4 c.20521+21T>C 0.992412 1 0.992177 0.9982 1 Uncertain 6_74161503_A->G 6 74161503 74161503 A G snp 2478.77 1/1 99 84 0 84 1.0 exonic rs9446904 MB21D1 AU synonymous SNV NM_138441 exon1 c.T402C p.P134P 0.898363 0.9484 0.869542 0.8724 0.9595 Uncertain 6_74161801_G->T 6 74161801 74161801 G T snp 2399.77 1/1 99 87 0 87 1.0 exonic rs9352000 MB21D1 AU nonsynonymous SNV NM_138441 exon1 c.C104A p.T35N 0.898363 0.9484 0.868338 0.8795 0.9605 0.44 T 0.0 P -1.027 T 0.0 T 0.0 T Pathogenic 6_74162011_A->- 6 74162011 74162011 A - indel 1143.73 1/1 84 30 0 30 1.0 UTR5 rs34413328 MB21D1 AU 0.205272 0.1905 Uncertain 6_74171384_C->A 6 74171384 74171384 C A snp 96.28 1/1 9 3 0 3 1.0 upstream rs12198468 MTO1 AR 0.911342 0.9484 Uncertain 6_74171467_C->G 6 74171467 74171467 C G snp 1843.77 1/1 99 53 0 53 1.0 UTR5 rs1713862 MTO1 AR 0.911342 0.9484 Uncertain 6_74175894_G->A 6 74175894 74175894 G A snp 998.77 0/1 99 61 22 39 0.64 intronic rs76943968 MTO1 AR NM_012123 exon2 c.4354-37G>A 0.0165735 0.0139 0.011764 0.0052 0.0084 Uncertain 6_74181194_G->A 6 74181194 74181194 G A snp 74.77 0/1 70 7 3 4 0.57 intronic rs6453676 MTO1 AR NM_012123 exon4 c.11510-1893G>A 0.195288 0.2123 0.1649 0.2045 Uncertain 6_74189574_G->A 6 74189574 74189574 G A snp 2677.77 1/1 99 96 0 96 1.0 intronic rs7766570 MTO1 AR NM_012123 exon5 c.17990+7G>A 1 1 1 1 CLINSIG=non-pathogenic;CLNDBN=not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000126851.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Uncertain 6_74190448_T->C 6 74190448 74190448 T C snp 3306.77 0/1 99 250 115 135 0.54 exonic rs2036039 MTO1 AR synonymous SNV NM_012123 exon7 c.T1180C p.L394L 0.208067 0.2123 0.206213 0.1871 0.2230 CLINSIG=non-pathogenic;CLNDBN=not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000126852.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Uncertain 6_74202160_A->C 6 74202160 74202160 A C snp 293.77 0/1 99 19 9 10 0.53 intronic rs73452507 MTO1 AR NM_012123 exon10 c.30498+85A>C 0.195487 0.2123 Uncertain 6_74227967_T->C 6 74227967 74227967 T C snp 955.77 0/1 99 85 43 42 0.49 exonic rs2351124 EEF1A1 AU synonymous SNV NM_001402 exon7 c.A1050G p.P350P 0.0209665 0.0218 0.016310 0.0071 0.0193 Uncertain 6_74228006_A->G 6 74228006 74228006 A G snp 1139.77 0/1 99 104 53 51 0.49 intronic rs1874229 EEF1A1 AU NM_001402 exon2 c.455+19A>G 0.655751 0.5347 0.700924 0.6968 0.5448 Uncertain 6_74229405_C->A 6 74229405 74229405 C A snp 957.77 1/1 72 26 0 26 1.0 intronic rs4708060 EEF1A1 AU NM_001402 exon6 c.1707+166C>A 0.919329 0.9494 Uncertain 6_74440514_G->C 6 74440514 74440514 G C snp 99.28 1/1 9 3 0 3 1.0 intronic rs10805974 CD109 AU NM_001159587 exon4 c.34359+217G>C 0.40635 0.3641 Uncertain 6_74466377_C->T 6 74466377 74466377 C T snp 1643.77 1/1 99 70 0 70 1.0 exonic rs6453696 CD109 AU synonymous SNV NM_133493 exon6 c.C645T p.Y215Y 0.668331 0.8452 0.595982 0.5879 0.8358 Uncertain 6_74468860_C->A 6 74468860 74468860 C A snp 1304.77 1/1 96 46 0 46 1.0 intronic rs7774119 CD109 AU NM_001159587 exon7 c.62813+109C>A 0.257588 0.3135 Uncertain 6_74481076_G->A 6 74481076 74481076 G A snp 686.77 1/1 51 19 0 19 1.0 intronic rs4706554 CD109 AU NM_001159587 exon15 c.75213-75G>A 0.479233 0.5089 Uncertain 6_74490344_A->C 6 74490344 74490344 A C snp 99.28 1/1 9 3 0 3 1.0 intronic rs9293941 CD109 AU NM_001159587 exon16 c.84283+123A>C 0.376997 0.4187 Uncertain 6_74490836_G->A 6 74490836 74490836 G A snp 139.03 1/1 12 4 0 4 1.0 intronic rs7742435 CD109 AU NM_001159587 exon17 c.85043-145G>A 0.3748 0.4087 Uncertain 6_74490863_T->A 6 74490863 74490863 T A snp 279.78 1/1 24 10 0 10 1.0 intronic rs7762433 CD109 AU NM_001159587 exon17 c.85043-118T>A 0.375 0.4087 Uncertain 6_74491138_T->C 6 74491138 74491138 T C snp 1717.77 1/1 99 56 0 56 1.0 intronic rs9447019 CD109 AU NM_001159587 exon17 c.85104+96T>C 0.3748 0.4087 Uncertain 6_74491385_ATATTTTTGAA->- 6 74491385 74491395 ATATTTTTGAA - indel 2562.73 1/1 60 27 0 27 1.0 intronic rs111578012 CD109 AU NM_001159587 exon17 c.85104+343_85104+353delATATTTTTGAA 0.374601 0.4087 Uncertain 6_74491468_T->C 6 74491468 74491468 T C snp 56.74 1/1 6 2 0 2 1.0 intronic rs7763367 CD109 AU NM_001159587 exon17 c.85104+426T>C 0.3748 0.4087 Uncertain 6_74492618_G->T 6 74492618 74492618 G T snp 168.9 1/1 15 5 0 5 1.0 intronic rs2047670 CD109 AU NM_001159587 exon18 c.86540+140G>T 0.374401 0.4087 Uncertain 6_74493432_A->C 6 74493432 74493432 A C snp 4030.77 1/1 99 146 0 146 1.0 exonic rs10455097 CD109 AU nonsynonymous SNV NM_133493 exon19 c.A2108C p.Y703S 0.515575 0.5268 0.556359 0.5111 0.5183 0.62 T 0.000 P -0.976 T 0.0 T 0.001 T ID=CM020385;DIS=Gov platelet antigen variation;TAG=FP;PUB=11861285 FP Pathogenic 6_74493616_T->- 6 74493616 74493616 T - indel 2551.73 1/1 99 108 0 108 1.0 intronic rs11301365 CD109 AU NM_001159587 exon19 c.87609+69delT 0.371206 0.4147 Uncertain 6_74495257_A->G 6 74495257 74495257 A G snp 6010.77 1/1 99 229 0 229 1.0 intronic rs6453700 CD109 AU NM_001159587 exon20 c.89262+57A>G 0.371805 0.4087 Uncertain 6_74497009_A->G 6 74497009 74497009 A G snp 3884.77 1/1 99 151 0 151 1.0 exonic rs2351528 CD109 AU nonsynonymous SNV NM_133493 exon21 c.A2390G p.N797S 0.372404 0.4087 0.392742 0.3653 0.3949 0.28 T 0.000 P -1.002 T 0.107 T 0.015 T Pathogenic 6_74497152_G->A 6 74497152 74497152 G A snp 3303.77 1/1 99 118 0 118 1.0 exonic rs5023688 CD109 AU nonsynonymous SNV NM_133493 exon21 c.G2533A p.V845I 0.371605 0.4087 0.392127 0.3646 0.3945 0.6 T 0.0 P -1.004 T 0.015 T 0.052 T Pathogenic 6_74497237_-->T 6 74497237 74497237 - T indel 806.73 1/1 75 33 0 33 1.0 intronic rs35066559 CD109 AU NM_001159587 exon21 c.91237+62insT 0.372404 0.4087 Uncertain 6_74498433_AAG->- 6 74498433 74498435 AAG - indel 254.87 1/1 15 7 0 7 1.0 intronic rs144408661 CD109 AU NM_001159587 exon22 c.92397+98_92397+100delAAG 0.372404 0.4087 Uncertain 6_74502210_C->T 6 74502210 74502210 C T snp 645.77 1/1 48 21 0 21 1.0 intronic rs12662725 CD109 AU NM_001159587 exon23 c.96410-138C>T 0.372204 0.4077 Uncertain 6_74521787_T->C 6 74521787 74521787 T C snp 1777.77 1/1 99 49 0 49 1.0 intronic rs1501192 CD109 AU NM_001159587 exon29 c.115989-140T>C 0.223842 0.3165 Uncertain 6_74530416_C->T 6 74530416 74530416 C T snp 2131.77 1/1 99 75 0 75 1.0 intronic rs11753946 CD109 AU NM_001159587 exon32 c.124349+129C>T 0.222444 0.3046 Uncertain 6_74533192_T->G 6 74533192 74533192 T G snp 1973.77 1/1 99 77 0 77 1.0 exonic rs2917887 CD109 AU synonymous SNV NM_133493 exon33 c.T4173G p.A1391A 0.844649 0.9514 0.859373 0.9026 0.9470 Uncertain 6_75795122_-->CACA 6 75795122 75795122 - CACA indel 1361.73 ./1 99 35 2 33 0.94 UTR3 rs112607771 COL12A1 AU 0.765575 0.7183 0.5805 0.4953 Uncertain 6_75795122_-->CA 6 75795122 75795122 - CA indel 1361.73 ./1 99 35 2 33 0.94 UTR3 rs112607771 COL12A1 AU 0.1956 0.3128 Uncertain 6_75797302_C->T 6 75797302 75797302 C T snp 417.77 0/1 99 47 28 19 0.4 exonic rs970547 COL12A1 AU nonsynonymous SNV NM_004370 exon65 c.G9172A p.G3058S 0.711861 0.6796 0.744746 0.7451 0.6653 0.05 T 1.000 P 0.557 D 1.0 D 0.999 D ID=CM067364;DIS=Lung cancer, susceptibility to, association with;TAG=DP;PUB=16741161 DP Pathogenic 6_75797549_A->G 6 75797549 75797549 A G snp 316.77 0/1 99 23 8 15 0.65 intronic rs2273264 COL12A1 AU NM_004370 exon2 c.1201+86A>G 0.0664936 0.2073 Uncertain 6_75798722_C->A 6 75798722 75798722 C A snp 1217.77 1/1 87 47 0 47 1.0 intronic rs672648 COL12A1 AU NM_004370 exon3 c.2559-99C>A 0.916134 0.8611 Uncertain 6_75800931_T->C 6 75800931 75800931 T C snp 41.77 0/1 70 4 2 2 0.5 intronic rs3765496 COL12A1 AU NM_004370 exon5 c.4776-107T>C 0.132188 0.1905 Uncertain 6_75804783_G->A 6 75804783 75804783 G A snp 1137.77 0/1 99 115 64 51 0.44 intronic rs10943236 COL12A1 AU NM_004370 exon7 c.8561-40G>A 0.154553 0.1905 0.109310 0.0675 0.2092 Uncertain 6_75811291_T->C 6 75811291 75811291 T C snp 1295.77 0/1 99 144 80 64 0.44 intronic rs3734191 COL12A1 AU NM_004370 exon9 c.15053-24T>C 0.0603035 0.1905 0.014730 0.0393 0.2093 Uncertain 6_75811880_G->A 6 75811880 75811880 G A snp 864.77 0/1 99 68 33 35 0.51 intronic rs556674 COL12A1 AU NM_004370 exon10 c.15506+112G>A 0.734425 0.6726 Uncertain 6_75814903_T->A 6 75814903 75814903 T A snp 956.77 0/1 99 109 63 46 0.42 intronic rs9447445 COL12A1 AU NM_004370 exon13 c.18659-18T>A 0.156749 0.1895 0.110981 0.0697 0.2113 Uncertain 6_75829347_T->C 6 75829347 75829347 T C snp 298.78 1/1 24 9 0 9 1.0 intronic rs636917 COL12A1 AU NM_004370 exon22 c.32927+158T>C 0.881789 0.8611 Uncertain 6_75830847_G->T 6 75830847 75830847 G T snp 218.84 1/1 18 6 0 6 1.0 intronic rs620129 COL12A1 AU NM_004370 exon23 c.34755-170G>T 0.756989 0.6627 Uncertain 6_75830974_G->C 6 75830974 75830974 G C snp 1351.77 0/1 99 128 66 62 0.48 intronic rs499018 COL12A1 AU NM_004370 exon23 c.34755-43G>C 0.612819 0.4256 0.659383 0.6551 0.3975 Uncertain 6_75830983_C->T 6 75830983 75830983 C T snp 1572.77 0/1 99 133 64 69 0.52 intronic rs619607 COL12A1 AU NM_004370 exon23 c.34755-34C>T 0.123003 0.2024 0.070361 0.0564 0.2147 Uncertain 6_75833876_C->A 6 75833876 75833876 C A snp 2782.77 1/1 99 98 0 98 1.0 intronic rs240722 COL12A1 AU NM_004370 exon25 c.37548+66C>A 0.763778 0.6974 Uncertain 6_75837913_T->C 6 75837913 75837913 T C snp 489.77 0/1 99 21 5 16 0.76 intronic rs9343271 COL12A1 AU NM_004370 exon29 c.41749-98T>C 0.0704872 0.2371 Uncertain 6_75841722_A->T 6 75841722 75841722 A T snp 3599.77 1/1 99 128 0 128 1.0 exonic rs594012 COL12A1 AU synonymous SNV NM_004370 exon35 c.T5871A p.A1957A 0.886182 0.8661 0.882263 0.8834 0.8741 Uncertain 6_75842974_T->C 6 75842974 75842974 T C snp 467.77 0/1 99 33 12 21 0.64 intronic rs2295252 COL12A1 AU NM_004370 exon33 c.46746-34T>C 0.0632987 0.1974 0.018575 0.0406 0.2230 Uncertain 6_75843845_T->C 6 75843845 75843845 T C snp 193.77 0/1 99 9 3 6 0.67 intronic rs1332778 COL12A1 AU NM_004370 exon34 c.47451+132T>C 0.624601 0.3958 Uncertain 6_75844600_C->T 6 75844600 75844600 C T snp 1627.77 1/1 99 58 0 58 1.0 intronic rs1332020 COL12A1 AU NM_004370 exon35 c.48309+29C>T 0.460863 0.5268 0.414606 0.4329 0.5568 Uncertain 6_75844700_C->A 6 75844700 75844700 C A snp 273.77 0/1 99 13 4 9 0.69 intronic rs1332019 COL12A1 AU NM_004370 exon35 c.48309+129C>A 0.277356 0.3343 Uncertain 6_75847036_G->A 6 75847036 75847036 G A snp 483.77 1/1 36 18 0 18 1.0 intronic rs240734 COL12A1 AU NM_004370 exon36 c.50890-116G>A 0.38119 0.3095 Uncertain 6_75848376_C->T 6 75848376 75848376 C T snp 1414.77 1/1 66 44 1 43 0.98 intronic rs240737 COL12A1 AU NM_004370 exon38 c.52034+80C>T 0.389776 0.3323 Uncertain 6_75851698_G->T 6 75851698 75851698 G T snp 1217.77 1/1 87 43 0 43 1.0 intronic rs2239642 COL12A1 AU NM_004370 exon40 c.55485-49G>T 0.0319489 0.119 0.001292 0.0156 0.1239 Uncertain 6_75857293_T->C 6 75857293 75857293 T C snp 1787.77 1/1 99 56 1 55 0.98 intronic rs2300794 COL12A1 AU NM_004370 exon44 c.61128-97T>C 0.0423323 0.119 Uncertain 6_75861430_G->A 6 75861430 75861430 G A snp 54.74 1/1 6 2 0 2 1.0 intronic rs73749975 COL12A1 AU NM_004370 exon47 c.65320-152G>A 0.0826677 0.1369 Uncertain 6_75861487_A->T 6 75861487 75861487 A T snp 524.77 1/1 39 19 0 19 1.0 intronic rs240726 COL12A1 AU NM_004370 exon47 c.65320-95A>T 0.118411 0.1369 Uncertain 6_75864276_T->G 6 75864276 75864276 T G snp 2717.77 1/1 99 100 1 99 0.99 intronic rs3756789 COL12A1 AU NM_004370 exon50 c.67991+23T>G 0.0455272 0.1379 0.015768 0.0219 0.1483 Uncertain 6_75865330_G->T 6 75865330 75865330 G T snp 1225.77 1/1 90 41 0 41 1.0 intronic rs171287 COL12A1 AU NM_004370 exon51 c.69115-47G>T 0.0734824 0.128 0.037443 0.0271 0.1348 Uncertain 6_75865872_C->T 6 75865872 75865872 C T snp 599.77 1/1 45 16 0 16 1.0 intronic rs75188867 COL12A1 AU NM_004370 exon52 c.69710-100C>T 0.0315495 0.127 Uncertain 6_75887271_C->T 6 75887271 75887271 C T snp 2471.77 1/1 99 82 0 82 1.0 intronic rs12198145 COL12A1 AU NM_004370 exon55 c.91116-107C>T 0.186901 0.2401 Uncertain 6_75887683_C->A 6 75887683 75887683 C A snp 307.78 1/1 24 9 0 9 1.0 intronic rs3777509 COL12A1 AU NM_004370 exon55 c.91389+32C>A 0.188299 0.2401 0.125064 0.1275 0.2288 Uncertain 6_75893458_A->- 6 75893458 75893458 A - indel 1155.73 1/1 99 42 0 42 1.0 intronic rs36085827 COL12A1 AU NM_004370 exon57 c.97106+90delA 0.838259 0.8671 Uncertain 6_75901292_C->T 6 75901292 75901292 C T snp 314.78 1/1 24 10 0 10 1.0 intronic rs743003 COL12A1 AU NM_004370 exon62 c.105154-124C>T 0.815096 0.8879 Uncertain 6_75904455_A->T 6 75904455 75904455 A T snp 1947.77 1/1 99 74 0 74 1.0 intronic rs240433 COL12A1 AU NM_004370 exon64 c.108284-91A>T 0.841853 0.8879 Uncertain 6_75950109_-->A 6 75950109 75950109 - A indel 89.73 0/1 99 32 8 24 0.75 intronic rs554727448 COX7A2 AU NM_001865 exon2 c.2456+8insA 0.140375 0.1339 0.4205 0.4201 Uncertain 6_75951719_A->C 6 75951719 75951719 A C snp 650.77 1/1 48 28 0 28 1.0 intronic rs240419 COX7A2 AU NM_001865 exon3 c.3336+738A>C 0.922923 0.9821 Uncertain 6_75966269_A->G 6 75966269 75966269 A G snp 252.8 1/1 21 7 0 7 1.0 intronic rs418485 TMEM30A AU NM_001143958 exon1 c.194+258A>G 0.921126 0.9821 Uncertain 6_75968720_G->A 6 75968720 75968720 G A snp 902.77 1/1 66 28 0 28 1.0 intronic rs147523 TMEM30A AU NM_001143958 exon2 c.2885+18G>A 0.913738 0.9812 0.903953 0.9337 0.9796 Uncertain 6_75977591_T->A 6 75977591 75977591 T A snp 552.77 1/1 42 14 0 14 1.0 intronic rs240395 TMEM30A AU NM_018247 exon6 c.11647+127T>A 0.765176 0.7718 Uncertain 6_76022082_A->G 6 76022082 76022082 A G snp 5558.77 1/1 99 185 0 185 1.0 intronic rs9352202 FILIP1 AU NM_015687 exon2 c.3706-30A>G 0.580671 0.4613 0.595802 0.5903 0.4366 Uncertain 6_76022090_G->C 6 76022090 76022090 G C snp 5952.77 1/1 99 208 0 208 1.0 intronic rs9343281 FILIP1 AU NM_015687 exon2 c.3706-22G>C 0.70008 0.5734 0.740504 0.6847 0.5486 Uncertain 6_76063133_A->G 6 76063133 76063133 A G snp 351.78 1/1 27 9 0 9 1.0 intronic rs6913979 FILIP1 AU NM_015687 exon3 c.44848-121A>G 0.635982 0.4821 Uncertain 6_76124548_A->G 6 76124548 76124548 A G snp 1729.77 0/1 99 167 96 71 0.43 exonic rs762706379 FILIP1 AU synonymous SNV NM_015687 exon2 c.T141C p.D47D 8.238e-06 0.0001 Uncertain 6_76124792_G->A 6 76124792 76124792 G A snp 1001.77 1/1 75 31 0 31 1.0 ncRNA_intronic rs2808201 LOC101928540 AU 0.690495 0.5952 Uncertain 6_76138146_-->AG 6 76138146 76138146 - AG indel 2901.73 1/1 99 58 0 58 1.0 ncRNA_exonic rs398110299 MIR4463 AU 0.707867 0.6141 0.75 . Uncertain 6_76333486_G->A 6 76333486 76333486 G A snp 482.77 1/1 36 16 0 16 1.0 intronic rs655471 SENP6 AU NM_015571 exon3 c.21375-129G>A 0.963059 1 Uncertain 6_76344431_C->T 6 76344431 76344431 C T snp 3357.77 1/1 99 121 0 121 1.0 exonic rs17414086 SENP6 AU nonsynonymous SNV NM_001100409 exon5 c.C362T p.T121M 0.155551 0.0595 0.264404 0.2660 0.0422 0.07 T 1.000 P -1.062 T 0.957 D 0.563 D Pathogenic 6_76369054_A->G 6 76369054 76369054 A G snp 4354.77 1/1 99 167 0 167 1.0 exonic rs507662 SENP6 AU synonymous SNV NM_001100409 exon7 c.A606G p.R202R 0.895767 0.877 0.923122 0.9594 0.8889 Uncertain 6_76376552_G->A 6 76376552 76376552 G A snp 6484.77 1/1 99 250 0 250 1.0 exonic rs17414687 SENP6 AU synonymous SNV NM_001100409 exon9 c.G1098A p.A366A 0.178315 0.0466 0.284166 0.2727 0.0395 Uncertain 6_76385330_G->C 6 76385330 76385330 G C snp 510.77 1/1 39 14 0 14 1.0 intronic rs17792195 SENP6 AU NM_015571 exon12 c.72944+146G>C 0.200679 0.0466 Uncertain 6_76419187_T->G 6 76419187 76419187 T G snp 1870.77 1/1 99 59 0 59 1.0 intronic rs75665266 SENP6 AU NM_015571 exon20 c.107002-55T>G 0.00379393 0.0179 Uncertain 6_76421003_A->G 6 76421003 76421003 A G snp 902.77 1/1 66 31 0 31 1.0 intronic rs3765140 SENP6 AU NM_015571 exon21 c.108803-40A>G 0.178115 0.0466 0.288524 0.2985 0.0545 Uncertain 6_76425288_A->G 6 76425288 76425288 A G snp 1515.77 1/1 99 56 0 56 1.0 exonic rs9250 SENP6 AU nonsynonymous SNV NM_001100409 exon23 c.A3296G p.Y1099C 0.152756 0.0466 0.264740 0.2664 0.0395 0.21 T 0.0 P -0.954 T 0.0 T 0.001 T Pathogenic 6_76554593_G->A 6 76554593 76554593 G A snp 360.78 1/1 27 15 0 15 1.0 intronic rs7760587 MYO6 AR,AD NM_004999 exon10 c.27349-20G>A 0.997804 1 0.989843 0.9909 1 Uncertain 6_76558380_A->C 6 76558380 76558380 A C snp 56.74 1/1 6 2 0 2 1.0 intronic rs9359141 MYO6 AR,AD NM_004999 exon11 c.30984+132A>C 0.313698 0.2292 Uncertain 6_76566734_T->G 6 76566734 76566734 T G snp 2114.77 1/1 99 69 0 69 1.0 intronic rs3798439 MYO6 AR,AD NM_004999 exon13 c.39549-79T>G 0.670128 0.6161 Uncertain 6_76576527_G->T 6 76576527 76576527 G T snp 948.77 1/1 69 28 0 28 1.0 intronic rs6453845 MYO6 AR,AD NM_004999 exon18 c.49384-121G>T 0.672524 0.625 Uncertain 6_76596728_C->T 6 76596728 76596728 C T snp 1310.77 1/1 93 47 0 47 1.0 intronic rs2295936 MYO6 AR,AD NM_004999 exon25 c.69447+17C>T 0.147764 0.0516 0.241273 0.2512 0.0524 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000038296.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 6_76604573_T->G 6 76604573 76604573 T G snp 750.77 1/1 54 27 0 27 1.0 intronic rs3798429 MYO6 AR,AD NM_004999 exon29 c.77683-374T>G 0.321086 0.2292 0.383133 0.4389 0.3351 Uncertain 6_76604797_A->G 6 76604797 76604797 A G snp 185.9 1/1 15 7 0 7 1.0 intronic rs3798427 MYO6 AR,AD NM_004999 exon29 c.77683-150A>G 0.321286 0.2292 Uncertain 6_76617511_-->TGTGTGTG 6 76617511 76617511 - TGTGTGTG indel 1295.73 1/1 66 43 0 43 1.0 intronic rs141652215 MYO6 AR,AD NM_004999 exon31 c.90161+86insTGTGTGTG 0.138778 0.0665 Uncertain 6_76624741_C->T 6 76624741 76624741 C T snp 261.8 1/1 21 8 0 8 1.0 UTR3 rs12606 MYO6 AR,AD 0.146965 0.0516 0.240966 0.2878 0.0664 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000038279.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 6_76633385_C->T 6 76633385 76633385 C T snp 1335.77 0/1 99 123 68 55 0.45 exonic rs3778005 IMPG1 AD nonsynonymous SNV NM_001563 exon16 c.G2282A p.S761N 0.124201 0.0546 0.192799 0.2017 0.0544 0.4 T 0.0 P -0.968 T 0.004 T 0.002 T Pathogenic 6_76640894_C->T 6 76640894 76640894 C T snp 1857.77 0/1 99 119 51 68 0.57 intronic rs3822956 IMPG1 AD NM_001563 exon3 c.9063+26C>T 0.0409345 0.1607 0.001845 0.0301 0.1962 Uncertain 6_76644527_C->T 6 76644527 76644527 C T snp 705.77 0/1 99 52 25 27 0.52 intronic rs9360960 IMPG1 AD NM_001563 exon3 c.9063+3659C>T 0.226038 0.2847 Uncertain 6_76660551_G->C 6 76660551 76660551 G C snp 2662.77 1/1 99 88 1 87 0.99 exonic rs3734311 IMPG1 AD nonsynonymous SNV NM_001563 exon13 c.C1552G p.H518D 0.534944 0.6607 0.444333 0.4659 0.6749 0.94 T 0.000 P -0.945 T 0.0 T 0.0 T Pathogenic 6_76715299_G->A 6 76715299 76715299 G A snp 97.77 0/1 99 21 15 6 0.29 intronic rs17802616 IMPG1 AD NM_001563 exon8 c.83446+48G>A 0.0738818 0.0714 0.087959 0.1042 0.0660 Uncertain 6_76717020_T->- 6 76717020 76717020 T - indel 65.73 0/1 96 10 5 5 0.5 intronic rs35430948 IMPG1 AD NM_001563 exon9 c.85391-176delT Uncertain 6_76717157_C->T 6 76717157 76717157 C T snp 216.77 0/1 99 31 20 11 0.35 intronic rs3736925 IMPG1 AD NM_001563 exon9 c.85391-39C>T 0.0726837 0.0665 0.088285 0.1035 0.0592 Uncertain 6_76720751_C->G 6 76720751 76720751 C G snp 50.74 1/1 6 2 0 2 1.0 intronic rs2251594 IMPG1 AD NM_001563 exon10 c.89077-131C>G 0.545327 0.5258 Uncertain 6_76734836_T->A 6 76734836 76734836 T A snp 263.77 0/1 99 24 12 12 0.5 intronic rs78017079 IMPG1 AD NM_001563 exon13 c.103105-74T>A 0.096246 0.0655 Uncertain 6_76782049_C->A 6 76782049 76782049 C A snp 1056.77 1/1 75 41 0 41 1.0 intronic rs1320537 IMPG1 AD NM_001563 exon17 c.150333-89C>A 0.996206 1 Uncertain 6_78171941_C->T 6 78171941 78171941 C T snp 3516.77 1/1 99 124 0 124 1.0 downstream rs6297 HTR1B AU 0.923522 0.8938 0.898278 0.8885 0.8794 Uncertain 6_78172260_C->G 6 78172260 78172260 C G snp 3280.77 0/1 99 250 112 138 0.55 exonic rs6296 HTR1B AU synonymous SNV NM_000863 exon1 c.G861C p.V287V 0.338059 0.5089 0.249423 0.3064 0.4871 Uncertain 6_78172992_G->A 6 78172992 78172992 G A snp 1051.77 0/1 99 117 74 43 0.37 exonic rs6298 HTR1B AU synonymous SNV NM_000863 exon1 c.C129T p.S43S 0.340655 0.5099 0.249270 0.3066 0.4871 Uncertain 6_79424433_A->G 6 79424433 79424433 A G snp 2450.77 1/1 99 107 0 107 1.0 intergenic rs9352613 MEI4 AU 0.297324 0.3006 0.285011 0.3672 0.3439 Uncertain 6_79577644_A->C 6 79577644 79577644 A C snp 3146.77 1/1 99 111 0 111 1.0 intronic rs9350789 IRAK1BP1 AU NM_001010844 exon1 c.315+36A>C 0.895966 0.877 0.903131 0.8940 0.8849 Uncertain 6_79595167_-->CTTAT 6 79595167 79595167 - CTTAT indel 7431.73 1/1 99 100 0 100 1.0 intronic rs112957702 IRAK1BP1 AU NM_001010844 exon2 c.17867+7insCTTAT 0.894569 0.877 0.886327 0.9007 0.8990 Uncertain 6_79612800_G->A 6 79612800 79612800 G A snp 6683.77 1/1 99 245 3 242 0.99 intergenic rs9352675 IRAK1BP1 AU 0.507388 0.6835 0.5867 0.6990 Uncertain 6_79657391_G->A 6 79657391 79657391 G A snp 2155.77 1/1 99 78 0 78 1.0 exonic rs1984195 PHIP AU synonymous SNV NM_017934 exon36 c.C4155T p.V1385V 0.508187 0.6835 0.430724 0.5067 0.7096 Uncertain 6_79664440_T->C 6 79664440 79664440 T C snp 884.77 1/1 66 30 0 30 1.0 intronic rs9443632 PHIP AU NM_017934 exon6 c.14121-90T>C 0.515974 0.6835 Uncertain 6_79664748_T->C 6 79664748 79664748 T C snp 509.77 1/1 39 14 0 14 1.0 intronic rs10455356 PHIP AU NM_017934 exon6 c.14271+68T>C 0.522165 0.6865 Uncertain 6_79679459_A->T 6 79679459 79679459 A T snp 329.77 0/1 99 23 10 13 0.57 intronic rs555313691 PHIP AU NM_017934 exon14 c.29142-92A>T 0.000199681 0.001 Uncertain 6_79679577_A->G 6 79679577 79679577 A G snp 3277.77 1/1 99 124 1 123 0.99 exonic rs7742431 PHIP AU synonymous SNV NM_017934 exon27 c.T3180C p.D1060D 0.551717 0.6855 0.473781 0.5323 0.7107 Uncertain 6_79692866_C->T 6 79692866 79692866 C T snp 509.77 0/1 99 41 22 19 0.46 intronic rs376408119 PHIP AU NM_017934 exon18 c.42425+32C>T 0.000399361 0.002 6.012e-05 0.0005 Uncertain 6_79695029_C->T 6 79695029 79695029 C T snp 1044.77 1/1 75 40 0 40 1.0 intronic rs1890229 PHIP AU NM_017934 exon19 c.44659-39C>T 0.520567 0.6845 0.435491 0.5102 0.7112 Uncertain 6_79707923_C->T 6 79707923 79707923 C T snp 1164.77 1/1 84 40 0 40 1.0 intronic rs11752126 PHIP AU NM_017934 exon23 c.57561-47C>T 0.387181 0.6756 0.295402 0.4087 0.7059 Uncertain 6_79708000_A->C 6 79708000 79708000 A C snp 3761.77 1/1 99 136 0 136 1.0 exonic rs7747479 PHIP AU nonsynonymous SNV NM_017934 exon18 c.T1988G p.V663G 0.943091 0.999 0.932723 0.9464 0.9993 0.011 P -0.920 T 0.0 T 0.0 T Pathogenic 6_79752792_T->C 6 79752792 79752792 T C snp 1732.77 1/1 99 51 0 51 1.0 intronic rs9343863 PHIP AU NM_017934 exon34 c.102311+72T>C 0.513978 0.6815 Uncertain 6_79913380_A->- 6 79913380 79913380 A - indel 545.73 1/1 59 36 1 35 0.97 intronic rs398002063 HMGN3 AU NM_004242 exon3 c.1943+33delA 0.657348 0.6766 0.6075 0.6358 Uncertain 6_79918309_G->A 6 79918309 79918309 G A snp 4489.77 1/1 99 153 0 153 1.0 intronic rs9341761 HMGN3 AU NM_004242 exon4 c.6889+16G>A 0.942492 1 0.925957 0.9607 0.9999 Uncertain 6_79944096_-->AG 6 79944096 79944096 - AG indel 1385.73 1/1 93 31 0 31 1.0 ncRNA_exonic rs3076135 HMGN3-AS1 AU 0.914936 1 Uncertain 6_79944246_T->C 6 79944246 79944246 T C snp 2764.77 0/1 99 239 119 120 0.5 ncRNA_exonic rs117215160 HMGN3-AS1 AU 0.0159744 0.0764 0.000231 0.0068 0.0893 Uncertain 6_79944355_T->G 6 79944355 79944355 T G snp 6037.77 1/1 99 204 0 204 1.0 ncRNA_exonic rs9361504 HMGN3-AS1 AU 0.921526 1 0.902102 Uncertain 6_80228541_A->G 6 80228541 80228541 A G snp 6855.77 1/1 99 241 0 241 1.0 exonic rs2655655 LCA5 AU nonsynonymous SNV NM_181714 exon3 c.T71C p.L24S 0.890575 0.9722 0.836998 0.8346 0.9816 0.58 T 0.000 P -0.942 T 0.0 T 0.0 T CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000153451.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 6_80228673_T->C 6 80228673 80228673 T C snp 1038.77 1/1 81 28 0 28 1.0 UTR5 rs2803195 LCA5 AU 0.890375 0.9712 Uncertain 6_80341320_C->G 6 80341320 80341320 C G snp 629.77 1/1 48 18 0 18 1.0 intronic rs6926093 SH3BGRL2 AU NM_031469 exon1 c.45+97C>G 0.920927 0.9286 Uncertain 6_80341321_G->C 6 80341321 80341321 G C snp 599.77 1/1 45 17 0 17 1.0 intronic rs6926397 SH3BGRL2 AU NM_031469 exon1 c.45+98G>C 0.920927 0.9286 Uncertain 6_80382863_G->A 6 80382863 80382863 G A snp 1875.77 1/1 99 67 0 67 1.0 intronic rs1883877 SH3BGRL2 AU NM_031469 exon2 c.42152-467G>A 0.183307 0.4236 Uncertain 6_80382874_T->G 6 80382874 80382874 T G snp 71.77 0/1 99 77 51 26 0.34 intronic SH3BGRL2 AU NM_031469 exon2 c.42152-456T>G Uncertain 6_80382916_G->T 6 80382916 80382916 G T snp 1475.77 1/1 99 46 0 46 1.0 intronic rs1883878 SH3BGRL2 AU NM_031469 exon2 c.42152-414G>T 0.880791 0.9792 Uncertain 6_80515892_A->G 6 80515892 80515892 A G snp 54.74 1/1 6 2 0 2 1.0 intronic C6orf7 AU NM_001243308 exon2 c.2174+127A>G Uncertain 6_80580038_T->G 6 80580038 80580038 T G snp 5840.77 1/1 99 210 0 210 1.0 exonic rs9361569 C6orf7 AU nonsynonymous SNV NM_001243308 exon1 c.A1C p.M1L 0.996206 1 0.9879 1 Pathogenic 6_80580120_G->A 6 80580120 80580120 G A snp 1876.77 0/1 99 166 88 78 0.47 UTR5 rs10943668 C6orf7 AU 0.1877 0.1905 Uncertain 6_80626375_T->C 6 80626375 80626375 T C snp 690.77 0/1 99 73 43 30 0.41 exonic rs3812153 ELOVL4 AR,AD nonsynonymous SNV NM_022726 exon6 c.A895G p.M299V 0.241613 0.2282 0.149700 0.1713 0.2116 0.35 T 0.0 P -0.983 T 0.0 T 0.0 T CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_provided|not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter|criteria_provided\x2c_single_submitter;CLNACC=RCV000124885.1|RCV000153195.2;CLNDSDB=MedGen|MedGen;CLNDSDBID=CN221809|CN169374 ID=CM052232;DIS=Age-related maculopathy, association with;TAG=DP;PUB=15930014 DP Pathogenic 6_80631539_T->A 6 80631539 80631539 T A snp 1084.77 1/1 78 37 0 37 1.0 intronic rs700483 ELOVL4 AR,AD NM_022726 exon3 c.5189+26T>A 1 1 1 1 Uncertain 6_80631630_G->T 6 80631630 80631630 G T snp 56.74 1/1 6 2 0 2 1.0 intronic rs7770585 ELOVL4 AR,AD NM_022726 exon3 c.5189+117G>T 0.229233 0.2282 Uncertain 6_80631631_G->C 6 80631631 80631631 G C snp 56.74 1/1 6 2 0 2 1.0 intronic rs7770586 ELOVL4 AR,AD NM_022726 exon3 c.5189+118G>C 0.229233 0.2282 Uncertain 6_80634848_A->G 6 80634848 80634848 A G snp 76.77 0/1 99 7 3 4 0.57 intronic rs343627 ELOVL4 AR,AD NM_022726 exon4 c.8425+99A>G 0.323083 0.2312 Uncertain 6_80715838_T->G 6 80715838 80715838 T G snp 3233.06 1/1 99 119 1 118 0.99 intronic rs240226 TTK AU NM_003318 exon2 c.139+139T>G 0.675919 0.7083 0.6566 0.7353 Uncertain 6_80718345_A->G 6 80718345 80718345 A G snp 56.74 1/1 6 2 0 2 1.0 intronic rs239552 TTK AU NM_003318 exon4 c.2649+136A>G 0.675519 0.7073 Uncertain 6_80720487_-->TA 6 80720487 80720487 - TA indel 603.73 1/1 76 26 0 26 1.0 intronic rs111611266 TTK AU NM_003318 exon5 c.4970-43insTA 0.672125 0.7014 Uncertain 6_80720488_C->A 6 80720488 80720488 C A snp 707.77 1/1 51 26 0 26 1.0 intronic rs79275696 TTK AU NM_003318 exon5 c.4970-42C>A 0.672125 0.7014 5.389e-05 0 Uncertain 6_80720490_T->G 6 80720490 80720490 T G snp 668.77 1/1 51 26 0 26 1.0 intronic rs201532549 TTK AU NM_003318 exon5 c.4970-40T>G 0.672125 0.7014 Uncertain 6_80720491_T->A 6 80720491 80720491 T A snp 702.77 1/1 51 26 0 26 1.0 intronic rs199796178 TTK AU NM_003318 exon5 c.4970-39T>A 0.672125 0.7014 Uncertain 6_80720733_G->A 6 80720733 80720733 G A snp 182.9 1/1 15 6 0 6 1.0 intronic rs151587 TTK AU NM_003318 exon5 c.5114+59G>A 0.672125 0.7034 Uncertain 6_80720742_A->T 6 80720742 80720742 A T snp 143.03 1/1 12 5 0 5 1.0 intronic rs239556 TTK AU NM_003318 exon5 c.5114+68A>T 0.672125 0.7034 Uncertain 6_80721045_A->G 6 80721045 80721045 A G snp 96.28 1/1 9 3 0 3 1.0 intronic rs239558 TTK AU NM_003318 exon6 c.5590-105A>G 0.675719 0.7083 Uncertain 6_80723198_T->C 6 80723198 80723198 T C snp 224.84 1/1 18 6 0 6 1.0 intronic rs239563 TTK AU NM_003318 exon9 c.7523+115T>C 0.676118 0.7083 Uncertain 6_80724156_T->C 6 80724156 80724156 T C snp 415.77 0/1 99 34 16 18 0.53 intronic rs2295840 TTK AU NM_003318 exon10 c.8619-23T>C 0.355232 0.6161 0.252040 0.3569 0.6300 Uncertain 6_80724312_A->G 6 80724312 80724312 A G snp 1786.77 1/1 99 66 0 66 1.0 intronic rs239566 TTK AU NM_003318 exon10 c.8743+9A>G 0.675719 0.7083 0.608963 0.6134 0.7016 Uncertain 6_80724462_C->T 6 80724462 80724462 C T snp 342.78 1/1 27 11 0 11 1.0 intronic rs239567 TTK AU NM_003318 exon10 c.8743+159C>T 0.675719 0.7083 Uncertain 6_80732241_C->T 6 80732241 80732241 C T snp 538.77 0/1 99 39 16 23 0.59 intronic rs2273753 TTK AU NM_003318 exon11 c.16629+52C>T 0.058107 0.0774 0.030391 0.0577 0.0638 Uncertain 6_80741328_G->A 6 80741328 80741328 G A snp 228.84 1/1 18 10 0 10 1.0 intronic rs239584 TTK AU NM_003318 exon14 c.25716+52G>A 0.675919 0.7083 0.606052 0.6106 0.6904 Uncertain 6_80741418_C->T 6 80741418 80741418 C T snp 101.28 1/1 9 4 0 4 1.0 intronic rs239585 TTK AU NM_003318 exon14 c.25716+142C>T 0.667332 0.7093 Uncertain 6_80749390_G->A 6 80749390 80749390 G A snp 325.77 0/1 99 30 17 13 0.43 intronic rs3799493 TTK AU NM_003318 exon19 c.33852-22G>A 0.0804712 0.0764 0.051703 0.0652 0.0623 Uncertain 6_80750093_C->G 6 80750093 80750093 C G snp 234.77 0/1 99 16 7 9 0.56 intronic rs2295841 TTK AU NM_003318 exon20 c.34437+96C>G 0.355431 0.6171 Uncertain 6_80750290_C->T 6 80750290 80750290 C T snp 776.77 1/1 57 30 0 30 1.0 intronic rs608962 TTK AU NM_003318 exon21 c.34762-32C>T 0.651957 0.7083 0.589321 0.6088 0.7046 Uncertain 6_80751780_G->A 6 80751780 80751780 G A snp 65.77 0/1 94 11 7 4 0.36 intronic rs652752 TTK AU NM_003318 exon22 c.36275-55G>A 0.515974 0.627 0.477483 Uncertain 6_80774236_C->T 6 80774236 80774236 C T snp 4137.77 1/1 99 149 0 149 1.0 intergenic rs7771228 TTK AU 0.932508 1 Uncertain 6_80777467_C->T 6 80777467 80777467 C T snp 1577.77 0/1 99 113 49 64 0.57 intergenic rs3828761 TTK AU 0.345447 0.2927 Uncertain 6_80777606_A->G 6 80777606 80777606 A G snp 1618.77 0/1 99 128 60 68 0.53 intergenic rs79850195 TTK AU 0.0541134 0.0744 Uncertain 6_80777608_G->A 6 80777608 80777608 G A snp 1642.77 0/1 99 126 60 66 0.52 intergenic rs3967160 TTK AU 0.417532 0.3026 Uncertain 6_80778853_G->C 6 80778853 80778853 G C snp 1770.77 0/1 99 177 99 78 0.44 intergenic rs6923330 TTK AU 0.335463 0.2927 Uncertain 6_80816748_T->C 6 80816748 80816748 T C snp 215.84 1/1 18 6 0 6 1.0 intronic rs35447745 BCKDHB AR NM_000056 exon1 c.196+142T>C 0.387979 0.5556 Uncertain 6_80837239_A->G 6 80837239 80837239 A G snp 3820.77 1/1 99 124 0 124 1.0 intronic rs9448893 BCKDHB AR NM_000056 exon2 c.20853-24A>G 0.38778 0.5556 0.323005 0.4438 0.5588 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000082731.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 6_80837253_G->T 6 80837253 80837253 G T snp 4248.77 1/1 99 151 0 151 1.0 intronic rs9448894 BCKDHB AR NM_000056 exon2 c.20853-10G>T 0.518371 0.6954 0.4682 0.6170 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter|criteria_provided\x2c_single_submitter;CLNACC=RCV000082730.3|RCV000123830.1;CLNDSDB=MedGen|MedGen;CLNDSDBID=CN169374|CN221809 Uncertain 6_80878508_-->AGGAAGGGAGGGAGGG 6 80878508 80878508 - AGGAAGGGAGGGAGGG indel 2651.73 ./1 99 13 0 13 1.0 intronic rs139630496 BCKDHB AR NM_000056 exon5 c.62181-83insAGGAAGGGAGGGAGGG 0.17512 0.1518 Uncertain 6_80878508_-->AGGAAGGGAGGGAGGGAGGG 6 80878508 80878508 - AGGAAGGGAGGGAGGGAGGG indel 2651.73 ./1 99 13 0 13 1.0 intronic rs139630496 BCKDHB AR NM_000056 exon5 c.62181-83insAGGAAGGGAGGGAGGGAGGG 0.43111 0.4911 Uncertain 6_80912746_C->T 6 80912746 80912746 C T snp 2808.77 1/1 99 96 0 96 1.0 intronic rs3828753 BCKDHB AR NM_000056 exon8 c.96408-72C>T 0.696286 0.7063 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000082773.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 6_81053642_G->A 6 81053642 81053642 G A snp 3172.77 1/1 99 104 0 104 1.0 UTR3 rs926733 BCKDHB AR 0.715056 0.7421 Uncertain 6_82461520_A->G 6 82461520 82461520 A G snp 2501.77 0/1 99 204 103 101 0.5 exonic rs3186631 FAM46A AU synonymous SNV NM_017633 exon2 c.T339C p.I113I 0.123403 0.0952 0.117339 0.0841 0.1078 1.0 P -1.040 T Likely benign 6_82461927_ACGCGCGGCGGCGGAGAGC->- 6 82461927 82461945 ACGCGCGGCGGCGGAGAGC - indel 5888.73 0/1 99 86 32 54 0.63 intronic rs201698941 FAM46A AU NM_017633 exon2 c.2484+32_2484+50delACGCGCGGCGGCGGAGAGC 0.111222 0.0952 0.0784 0.1327 Uncertain 6_82884528_A->C 6 82884528 82884528 A C snp 174.9 1/1 15 5 0 5 1.0 intronic rs197247 IBTK AU NM_001300906 exon3 c.2014+1373A>C 0.991813 0.999 Uncertain 6_82891570_T->C 6 82891570 82891570 T C snp 34.77 0/1 63 9 6 3 0.33 intronic IBTK AU NM_001300906 exon4 c.10454-25T>C Uncertain 6_82910247_C->G 6 82910247 82910247 C G snp 98.03 1/1 12 4 0 4 1.0 intronic rs4706938 IBTK AU NM_001300906 exon10 c.29162-56C>G 0.58726 0.7659 Uncertain 6_82912153_T->G 6 82912153 82912153 T G snp 125.03 1/1 12 6 0 6 1.0 intronic rs7771978 IBTK AU NM_001300906 exon12 c.31103-91T>G 0.47484 0.7649 Uncertain 6_82924645_A->G 6 82924645 82924645 A G snp 56.74 1/1 6 2 0 2 1.0 intronic rs6912968 IBTK AU NM_001300906 exon18 c.43405+99A>G 0.8127 0.9673 Uncertain 6_83666936_T->C 6 83666936 83666936 T C snp 955.77 1/1 69 36 0 36 1.0 intronic rs293531 UBE3D AU NM_001304437 exon2 c.64290-94T>C 0.669728 0.7976 Uncertain 6_83666943_G->T 6 83666943 83666943 G T snp 1200.77 1/1 87 44 0 44 1.0 intronic rs293532 UBE3D AU NM_001304437 exon2 c.64290-87G>T 0.669529 0.7976 Uncertain 6_83733785_C->T 6 83733785 83733785 C T snp 1063.77 1/1 75 47 0 47 1.0 intronic rs4235816 UBE3D AU NM_001304437 exon5 c.131017+28C>T 0.647564 0.7778 0.617488 0.6985 0.7987 Uncertain 6_83752057_C->G 6 83752057 83752057 C G snp 1205.77 1/1 90 43 0 43 1.0 intronic rs4612135 UBE3D AU NM_001304437 exon7 c.151406-2089C>G 0.998802 1 Uncertain 6_83754094_T->C 6 83754094 83754094 T C snp 677.77 1/1 51 20 0 20 1.0 intronic rs4455637 UBE3D AU NM_001304437 exon7 c.151406-52T>C 1 1 Uncertain 6_83754481_T->C 6 83754481 83754481 T C snp 309.78 1/1 24 9 0 9 1.0 intronic rs2027282 UBE3D AU NM_001304437 exon7 c.151638+103T>C 0.808107 0.8988 Uncertain 6_83775201_C->G 6 83775201 83775201 C G snp 2413.77 1/1 99 82 0 82 1.0 intronic rs6915334 UBE3D AU NM_198920 exon10 c.172620-159C>G 0.913139 0.9683 Uncertain 6_83818965_A->G 6 83818965 83818965 A G snp 52.74 1/1 6 2 0 2 1.0 intronic rs1925783 DOPEY1 AU NM_001199942 exon5 c.12103+166A>G 0.639577 0.7143 Uncertain 6_83822985_G->A 6 83822985 83822985 G A snp 3572.77 1/1 99 117 0 117 1.0 intronic rs1925782 DOPEY1 AU NM_001199942 exon7 c.16345-56G>A 0.803714 0.8175 Uncertain 6_83828724_G->A 6 83828724 83828724 G A snp 5333.77 1/1 99 196 0 196 1.0 intronic rs2148010 DOPEY1 AU NM_001199942 exon8 c.22010+18G>A 0.788139 0.8095 0.764493 0.7806 0.7954 Uncertain 6_83842084_-->CA 6 83842084 83842084 - CA indel 521.73 0/1 99 43 16 27 0.63 intronic rs3830927 DOPEY1 AU NM_001199942 exon18 c.35351+37insCA 0.0206 0.0675 Uncertain 6_83938484_-->A 6 83938484 83938484 - A indel 675.73 0/1 99 71 41 30 0.42 intronic rs112586895 ME1 AU NM_002395 exon5 c.16902-60insA 0.196486 0.2857 Uncertain 6_83938983_C->T 6 83938983 83938983 C T snp 420.77 0/1 99 46 24 22 0.48 intronic rs9449595 ME1 AU NM_002395 exon5 c.17008+333C>T 0.254593 0.2857 Uncertain 6_83947574_T->G 6 83947574 83947574 T G snp 785.77 0/1 99 66 29 37 0.56 intronic ME1 AU NM_002395 exon6 c.25907+25T>G Uncertain 6_83949261_T->C 6 83949261 83949261 T C snp 2691.77 0/1 99 216 105 111 0.51 exonic rs1180230 ME1 AU synonymous SNV NM_002395 exon8 c.A909G p.G303G 0.432907 0.3472 0.463171 0.4119 0.3329 Uncertain 6_83949497_C->T 6 83949497 83949497 C T snp 352.77 0/1 99 27 14 13 0.48 intronic rs9444054 ME1 AU NM_002395 exon7 c.27713+142C>T 0.160144 0.255 Uncertain 6_84108065_A->T 6 84108065 84108065 A T snp 1639.77 1/1 99 60 0 60 1.0 intronic rs4706990 ME1 AU NM_002395 exon12 c.186443-20A>T 0.498003 0.4187 0.474935 0.4202 0.4136 Uncertain 6_84233831_G->A 6 84233831 84233831 G A snp 2366.77 1/1 99 82 0 82 1.0 exonic rs504593 PRSS35 AU nonsynonymous SNV NM_153362 exon2 c.G671A p.R224Q 0.967652 1 0.923420 0.9218 0.9999 0.63 T 0.0 P -0.986 T 0.002 T 0.0 T Pathogenic 6_84266041_A->G 6 84266041 84266041 A G snp 96.77 0/1 99 15 10 5 0.33 intronic rs4706182 SNAP91 AU NM_001242794 exon2 c.93+77A>G 0.817093 0.8552 Uncertain 6_84266058_GG->- 6 84266058 84266059 GG - indel 148.87 1/1 15 7 0 7 1.0 intronic rs373168644 SNAP91 AU NM_001242794 exon2 c.93+94_93+95delGG Uncertain 6_84284664_G->C 6 84284664 84284664 G C snp 892.77 1/1 66 24 0 24 1.0 intronic rs6941004 SNAP91 AU NM_001242794 exon5 c.18857-64G>C 0.888379 0.9474 Uncertain 6_84284880_T->A 6 84284880 84284880 T A snp 1560.77 0/1 99 125 62 63 0.5 intronic rs2022269 SNAP91 AU NM_001242794 exon5 c.18969+40T>A 0.824681 0.8571 0.758723 0.7792 0.8943 Uncertain 6_84290139_AAG->- 6 84290139 84290141 AAG - indel 488.73 0/1 99 32 16 16 0.5 intronic rs555636713 SNAP91 AU NM_001242794 exon7 c.24297-29_24297-27delAAG 0.0473243 0.0218 0.2615 0.3359 Uncertain 6_84292139_T->A 6 84292139 84292139 T A snp 520.77 0/1 99 27 7 20 0.74 intronic rs1033653 SNAP91 AU NM_001242794 exon8 c.26204+64T>A 0.823882 0.8581 Uncertain 6_84303342_T->C 6 84303342 84303342 T C snp 2314.77 0/1 99 213 106 107 0.5 exonic rs1033655 SNAP91 AU synonymous SNV NM_001256718 exon16 c.A1194G p.P398P 0.821685 0.8601 0.756784 0.7839 0.8859 1.0 P -1.051 T Likely benign 6_84317533_A->T 6 84317533 84317533 A T snp 1430.77 0/1 99 120 52 68 0.57 splicing rs7752421 SNAP91 AU NM_001242794 exon10 c.51656+6A>T 0.378594 0.4236 0.357869 0.4848 0.5124 Pathogenic 6_84366385_-->AAG 6 84366385 84366385 - AAG indel 4866.73 1/1 99 84 0 84 1.0 intronic rs3037027 SNAP91 AU NM_001242794 exon14 c.100601-87insAAG 0.886981 0.9474 Uncertain 6_84368820_A->- 6 84368820 84368820 A - indel 780.73 0/1 99 123 42 81 0.66 intronic rs779772281 SNAP91 AU NM_001242794 exon15 c.102940+9delA 0.4083 0.3981 Uncertain 6_84375033_G->A 6 84375033 84375033 G A snp 135.77 0/1 99 16 11 5 0.31 intronic rs217303 SNAP91 AU NM_001242794 exon18 c.109286-124G>A 0.379792 0.4256 Uncertain 6_84375377_G->A 6 84375377 84375377 G A snp 1177.77 1/1 90 36 1 35 0.97 intronic rs217302 SNAP91 AU NM_001242794 exon18 c.109429+77G>A 0.886581 0.9474 Uncertain 6_84764982_C->T 6 84764982 84764982 C T snp 1183.77 0/1 99 97 51 46 0.47 intronic rs45563336 MRAP2 AD 0.159145 0.1567 Uncertain 6_84772845_A->G 6 84772845 84772845 A G snp 303.77 0/1 99 20 8 12 0.6 intronic rs17730011 MRAP2 AD NM_138409 exon3 c.7674+134A>G 0.209665 0.2034 Uncertain 6_84799185_C->T 6 84799185 84799185 C T snp 989.77 0/1 99 115 65 50 0.43 exonic rs2875382 MRAP2 AD synonymous SNV NM_138409 exon4 c.C603T p.H201H 0.349241 0.1736 0.356912 0.2521 0.1544 Uncertain 6_84799300_G->A 6 84799300 84799300 G A snp 95.77 0/1 99 17 13 4 0.24 UTR3 rs7450001 MRAP2 AD 0.135184 0.1637 Uncertain 6_84911336_C->T 6 84911336 84911336 C T snp 159.77 0/1 99 17 8 9 0.53 intronic rs2274092 CEP162 AU NM_014895 exon20 c.76666-118C>T 0.46266 0.2312 Uncertain 6_84922813_C->G 6 84922813 84922813 C G snp 391.77 0/1 99 20 7 13 0.65 intronic rs79050633 CEP162 AU NM_014895 exon22 c.87954+71C>G 0.0101837 0.0218 Uncertain 6_84935866_A->G 6 84935866 84935866 A G snp 119.77 0/1 99 9 4 5 0.56 intronic rs9449851 CEP162 AU NM_014895 exon26 c.101266-188A>G 0.256989 0.2837 Uncertain 6_85448103_C->T 6 85448103 85448103 C T snp 252.77 0/1 99 27 16 11 0.41 intronic rs761391 TBX18 AD NM_001080508 exon2 c.1812-111C>T 0.40635 0.3234 Uncertain 6_85470177_T->A 6 85470177 85470177 T A snp 753.77 0/1 99 51 21 30 0.59 intronic rs7751988 TBX18 AD NM_001080508 exon6 c.23672+103T>A 0.0744808 0.0367 Uncertain 6_86180926_A->G 6 86180926 86180926 A G snp 903.77 1/1 66 29 0 29 1.0 intronic rs10944129 NT5E AR NM_001204813 exon3 c.21097-28A>G 0.444289 0.3175 0.463540 0.6265 0.5345 Uncertain 6_86195298_A->G 6 86195298 86195298 A G snp 96.28 1/1 9 3 0 3 1.0 intronic rs9450282 NT5E AR NM_001204813 exon4 c.35293+148A>G 0.596446 0.369 Uncertain 6_86199233_A->G 6 86199233 86199233 A G snp 5719.77 1/1 99 209 0 209 1.0 exonic rs2229523 NT5E AR nonsynonymous SNV NM_002526 exon6 c.A1126G p.T376A 0.793331 0.5972 0.771183 0.7340 0.5989 0.31 T 0.0 P -1.010 T 0.0 T 0.001 T Pathogenic 6_86199329_G->C 6 86199329 86199329 G C snp 2930.77 1/1 99 93 0 93 1.0 intronic rs9450284 NT5E AR NM_001204813 exon6 c.39460+12G>C 0.578874 0.5456 0.524450 0.6116 0.5473 Uncertain 6_86201667_G->A 6 86201667 86201667 G A snp 765.77 0/1 99 67 39 28 0.42 intronic rs760047942 NT5E AR NM_001204813 exon7 c.41837-27G>A 3.305e-05 0.0005 Uncertain 6_86224053_T->G 6 86224053 86224053 T G snp 1720.77 1/1 99 46 0 46 1.0 intronic rs6454472 SNX14 AR NM_001297614 exon5 c.8268+101T>G 0.45647 0.3194 Uncertain 6_86240147_G->A 6 86240147 86240147 G A snp 182.9 1/1 15 5 0 5 1.0 intronic rs4640862 SNX14 AR NM_001297614 exon11 c.24309+154G>A 0.432109 0.3185 Uncertain 6_86246709_C->A 6 86246709 86246709 C A snp 1856.77 1/1 99 54 0 54 1.0 intronic rs12193777 SNX14 AR NM_001297614 exon13 c.30958+67C>A 0.432109 0.3185 Uncertain 6_86246716_-->A 6 86246716 86246716 - A indel 1073.73 1/1 99 44 0 44 1.0 intronic rs397763852 SNX14 AR NM_001297614 exon13 c.30958+74insA 0.778754 0.5972 Uncertain 6_86248460_T->C 6 86248460 86248460 T C snp 700.77 1/1 54 22 0 22 1.0 intronic rs9294337 SNX14 AR NM_001304479 exon14 c.32871-95T>C 0.778954 0.5972 Uncertain 6_87795863_G->T 6 87795863 87795863 G T snp 1001.77 0/1 99 72 35 37 0.51 intronic rs7745823 CGA AU NM_000735 exon2 c.494-104G>T 0.242212 0.131 Uncertain 6_87796233_G->A 6 87796233 87796233 G A snp 477.77 1/1 36 19 0 19 1.0 intronic rs2011192 CGA AU NM_001252383 exon3 c.761-1G>A 0.57488 0.62 0.5895 0.6341 Uncertain 6_87925827_ACACAC->- 6 87925827 87925832 ACACAC - indel 929.74 1/1 28 57 1 56 0.98 intronic rs563101504 ZNF292 AU NM_015021 exon2 c.60466+52_60466+57delACACAC Uncertain 6_88075122_C->T 6 88075122 88075122 C T snp 182.77 0/1 99 18 10 8 0.44 UTR3 rs9353482 C6orf163 AU 0.112819 0.1369 0.1445 0.168 Uncertain 6_88108049_GAT->- 6 88108049 88108051 GAT - indel 3686.73 0/1 99 161 85 76 0.47 ncRNA_exonic rs368228855 LINC01590 AU 0.711462 0.7589 0.7557 0.7347 Uncertain 6_88109304_G->A 6 88109304 88109304 G A snp 423.77 0/1 99 54 33 21 0.39 ncRNA_exonic rs1051550 LINC01590 AU 0.711462 0.7589 Uncertain 6_88119529_A->- 6 88119529 88119529 A - indel 1037.73 0/1 99 68 28 40 0.59 intronic rs11350856 C6orf165 AU 0.287141 0.2361 0.2792 0.2411 Uncertain 6_88119693_G->A 6 88119693 88119693 G A snp 954.77 0/1 99 69 34 35 0.51 intronic rs6454616 C6orf165 AU NM_001031743 exon2 c.108+28G>A 0.287141 0.2361 0.316469 0.2765 0.2342 Uncertain 6_88119736_T->G 6 88119736 88119736 T G snp 384.77 0/1 99 33 19 14 0.42 intronic rs6915562 C6orf165 AU NM_001031743 exon2 c.108+71T>G 0.287141 0.2361 Uncertain 6_88120416_A->G 6 88120416 88120416 A G snp 916.77 0/1 99 82 44 38 0.46 intronic rs12663587 C6orf165 AU NM_001031743 exon3 c.829+30A>G 0.0579073 0.1042 0.053129 0.0652 0.0966 Uncertain 6_88120512_A->G 6 88120512 88120512 A G snp 158.77 0/1 99 12 5 7 0.58 intronic rs6909168 C6orf165 AU NM_001031743 exon3 c.829+126A>G 0.287141 0.2361 Uncertain 6_88126423_G->C 6 88126423 88126423 G C snp 1442.77 0/1 99 106 50 56 0.53 exonic rs16879281 C6orf165 AU nonsynonymous SNV NM_001031743 exon6 c.G509C p.G170A 0.101238 0.1042 0.106489 0.1067 0.0963 0.94 T 0.782 P -1.015 T 0.176 T 0.04 T Pathogenic 6_88136324_C->T 6 88136324 88136324 C T snp 221.77 0/1 99 41 27 14 0.34 exonic rs34673243 C6orf165 AU synonymous SNV NM_001031743 exon8 c.C921T p.T307T 0.048123 0.129 0.013071 0.0323 0.1216 Uncertain 6_88141064_A->G 6 88141064 88141064 A G snp 185.77 0/1 99 11 5 6 0.55 intronic rs35332886 C6orf165 AU NM_001031743 exon10 c.21334+173A>G 0.254792 0.2351 Uncertain 6_88182704_G->C 6 88182704 88182704 G C snp 893.77 0/1 99 62 25 37 0.6 UTR5 rs9450704 SLC35A1 AR 0.645966 0.5188 0.674109 0.7002 0.6155 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000081411.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 6_88224495_T->C 6 88224495 88224495 T C snp 116.77 0/1 99 8 4 4 0.5 intronic rs3757368 RARS2 AR NM_020320 exon2 c.544-179T>C 0.639177 0.5605 Uncertain 6_88226641_A->G 6 88226641 88226641 A G snp 1949.77 0/1 99 170 78 92 0.54 intronic rs9450723 RARS2 AR NM_020320 exon3 c.2468+43A>G 0.639177 0.5605 0.606489 0.5737 0.5650 Uncertain 6_88231443_A->G 6 88231443 88231443 A G snp 40.77 0/1 33 3 1 2 0.67 intronic rs11965607 RARS2 AR NM_020320 exon9 c.7112+201A>G 0.440296 0.4048 Uncertain 6_88239266_T->C 6 88239266 88239266 T C snp 388.77 0/1 99 31 14 17 0.55 exonic rs17850652 RARS2 AR nonsynonymous SNV NM_020320 exon10 c.A872G p.K291R 0.0984425 0.1081 0.093245 0.0846 0.1003 0.01 T 0.991 P -0.997 T 0.0 T 0.004 T CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000118127.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 6_88251827_G->A 6 88251827 88251827 G A snp 355.77 0/1 99 31 19 12 0.39 intronic rs75592308 RARS2 AR NM_020320 exon13 c.27582+115G>A 0.0766773 0.1081 Uncertain 6_88251869_T->A 6 88251869 88251869 T A snp 178.77 0/1 99 13 7 6 0.46 intronic rs7773906 RARS2 AR NM_020320 exon13 c.27582+157T>A 0.639177 0.5605 Uncertain 6_88255438_T->C 6 88255438 88255438 T C snp 380.77 0/1 99 30 15 15 0.5 intronic rs4707374 RARS2 AR NM_020320 exon14 c.31287+21T>C 0.638978 0.5605 0.606714 0.5727 0.5642 Uncertain 6_88300013_A->G 6 88300013 88300013 A G snp 2198.77 0/1 99 214 125 89 0.42 intronic rs9450752 ORC3 AU NM_181837 exon1 c.24+103A>G 0.639776 0.5605 Uncertain 6_88300134_T->A 6 88300134 88300134 T A snp 58.77 0/1 87 7 4 3 0.43 intronic rs6911782 ORC3 AU NM_181837 exon1 c.24+224T>A 0.43131 0.4048 Uncertain 6_88303967_A->C 6 88303967 88303967 A C snp 177.77 0/1 99 54 42 12 0.22 intronic rs7750207 ORC3 AU NM_181837 exon2 c.4184-103A>C 0.639776 0.5605 Uncertain 6_88313373_T->C 6 88313373 88313373 T C snp 289.77 0/1 99 26 14 12 0.46 intronic rs78776149 ORC3 AU NM_181837 exon4 c.13360+127T>C 0.0786741 0.1081 Uncertain 6_88315563_T->C 6 88315563 88315563 T C snp 220.77 0/1 99 18 9 9 0.5 intronic rs12664927 ORC3 AU NM_181837 exon5 c.15748-71T>C 0.0788738 0.1081 Uncertain 6_88315742_A->- 6 88315742 88315742 A - indel 729.73 0/1 99 55 28 27 0.49 splicing rs2307391 ORC3 AU NM_181837 exon5 c.15853+3delA 0.634585 0.5595 0.601597 0.5734 0.5600 Pathogenic 6_88315796_T->- 6 88315796 88315796 T - indel 435.73 0/1 99 30 12 18 0.6 intronic rs200171142 ORC3 AU NM_181837 exon5 c.15853+57delT 0.0790735 0.1081 Uncertain 6_88317675_G->C 6 88317675 88317675 G C snp 229.77 0/1 99 20 10 10 0.5 intronic rs4706294 ORC3 AU NM_181837 exon6 c.17656+133G>C 0.630591 0.5615 Uncertain 6_88331058_C->T 6 88331058 88331058 C T snp 156.78 0/1 24 6 1 5 0.83 intronic rs2307366 ORC3 AU NM_181837 exon10 c.31185-13C>T 0.0788738 0.1081 0.070472 0.0819 0.1008 Uncertain 6_88331299_A->G 6 88331299 88331299 A G snp 403.77 0/1 99 44 25 19 0.43 intronic rs7772561 ORC3 AU NM_181837 exon10 c.31319+94A>G 0.630791 0.5615 Uncertain 6_88331335_C->- 6 88331335 88331335 C - indel 120.73 0/1 99 17 10 7 0.41 intronic rs34542681 ORC3 AU NM_181837 exon10 c.31319+130delC 0.630591 0.5615 Uncertain 6_88346369_T->C 6 88346369 88346369 T C snp 496.77 0/1 99 43 26 17 0.4 intronic rs16879646 ORC3 AU NM_181837 exon13 c.46318+165T>C 0.0860623 0.1081 Uncertain 6_88361017_G->A 6 88361017 88361017 G A snp 830.77 0/1 99 56 27 29 0.52 intronic rs7772351 ORC3 AU NM_181837 exon14 c.62947-1816G>A 0.429912 0.4058 0.4273 0.4470 Uncertain 6_88366708_C->T 6 88366708 88366708 C T snp 720.77 0/1 99 62 31 31 0.5 intronic rs2307373 ORC3 AU NM_181837 exon15 c.66814+8C>T 0.335064 0.4782 0.330924 0.3873 0.4724 Uncertain 6_88366771_A->G 6 88366771 88366771 A G snp 544.77 0/1 99 49 25 24 0.49 intronic rs2307379 ORC3 AU NM_181837 exon15 c.66814+71A>G 0.635783 0.5665 0.6044 0.6042 Uncertain 6_88367635_A->G 6 88367635 88367635 A G snp 1268.77 0/1 99 109 54 55 0.5 splicing rs2307377 ORC3 AU NM_181837 exon16 c.67752-3A>G 0.0770767 0.1081 0.069968 0.0783 0.1001 Pathogenic 6_88410955_A->G 6 88410955 88410955 A G snp 1450.77 0/1 99 124 68 56 0.45 intronic rs2787925 AKIRIN2 AU NM_018064 exon5 c.25853-212A>G 0.104633 0.1071 Uncertain 6_88853635_C->T 6 88853635 88853635 C T snp 1004.77 0/1 99 140 88 52 0.37 exonic rs1049353 CNR1 AU synonymous SNV NM_016083 exon2 c.G1359A p.T453T 0.129393 0.0764 0.203291 0.2136 0.0679 ID=CM074755;DIS=Abdominal adiposity in obese men, association with;TAG=DP;PUB=17873324 DP Uncertain 6_89790560_TTCA->- 6 89790560 89790563 TTCA - indel 13527.7 1/1 99 205 0 205 1.0 UTR5 rs397686554 PNRC1 AU 0.782947 0.8343 Uncertain 6_89793894_G->C 6 89793894 89793894 G C snp 1803.77 0/1 99 166 86 80 0.48 exonic rs1130809 PNRC1 AU synonymous SNV NM_006813 exon2 c.G963C p.T321T 0.348842 0.6696 0.180867 0.2495 0.6754 Uncertain 6_89814773_A->- 6 89814773 89814773 A - indel 385.73 1/1 36 12 0 12 1.0 intronic rs35869140 SRSF12 AU NM_080743 exon2 c.6541-64delA 0.665335 0.7867 Uncertain 6_89814830_A->G 6 89814830 89814830 A G snp 1946.77 1/1 99 69 0 69 1.0 intronic rs7753709 SRSF12 AU NM_080743 exon2 c.6541-7A>G 0.76877 0.8304 0.726802 0.7497 0.8368 Uncertain 6_89858851_G->A 6 89858851 89858851 G A snp 137.77 0/1 99 18 11 7 0.39 intronic rs6926895 PM20D2 AU NM_001010853 exon2 c.3120-132G>A 0.25 0.2113 Uncertain 6_89862725_T->C 6 89862725 89862725 T C snp 447.77 0/1 99 33 15 18 0.55 intronic rs6937095 PM20D2 AU NM_001010853 exon3 c.6898-36T>C 0.204473 0.125 0.250577 0.2564 0.1111 Uncertain 6_89864679_A->G 6 89864679 89864679 A G snp 1106.77 0/1 99 112 61 51 0.46 intronic rs4053639 PM20D2 AU NM_001010853 exon4 c.8758+58A>G 0.368011 0.256 Uncertain 6_89867980_T->C 6 89867980 89867980 T C snp 119.77 0/1 99 8 3 5 0.63 intronic rs9344910 PM20D2 AU NM_001010853 exon5 c.12180-63T>C 0.2498 0.2113 Uncertain 6_89868190_-->T 6 89868190 89868190 - T indel 587.73 0/1 99 58 30 28 0.48 intronic rs3831213 PM20D2 AU NM_001010853 exon5 c.12316+11insT 0.351238 0.253 0.349824 0.3031 0.2561 Uncertain 6_89868287_G->A 6 89868287 89868287 G A snp 336.77 0/1 99 26 11 15 0.58 intronic rs2297308 PM20D2 AU NM_001010853 exon5 c.12316+108G>A 0.347444 0.254 Uncertain 6_89871759_G->A 6 89871759 89871759 G A snp 1922.77 0/1 99 158 83 75 0.47 intronic rs2297309 PM20D2 AU NM_001010853 exon7 c.15964-68G>A 0.366613 0.255 Uncertain 6_89888443_T->C 6 89888443 89888443 T C snp 423.77 0/1 99 26 9 17 0.65 UTR3 rs3734201 GABRR1 AU 0.401757 0.2718 0.433492 0.4144 0.2467 Uncertain 6_89894968_G->A 6 89894968 89894968 G A snp 298.77 0/1 99 28 14 14 0.5 intronic rs407206 GABRR1 AU NM_002042 exon4 c.6540-60G>A 0.174321 0.1081 Uncertain 6_89895202_G->A 6 89895202 89895202 G A snp 1394.77 1/1 65 53 1 52 0.98 intronic rs406462 GABRR1 AU NM_002042 exon4 c.6681+33G>A 0.354433 0.3075 0.435568 0.4534 0.3173 Uncertain 6_89895207_G->A 6 89895207 89895207 G A snp 1344.77 1/1 96 47 0 47 1.0 intronic rs364936 GABRR1 AU NM_002042 exon4 c.6681+38G>A 0.354233 0.3075 0.435107 0.4534 0.3168 Uncertain 6_89907873_G->A 6 89907873 89907873 G A snp 2546.77 1/1 99 97 0 97 1.0 exonic rs422751 GABRR1 AU synonymous SNV NM_001256703 exon4 c.C387T p.D129D 0.79393 0.9464 0.775258 0.8262 0.9537 Uncertain 6_89912986_G->C 6 89912986 89912986 G C snp 220.84 1/1 18 6 0 6 1.0 intronic rs4457138 GABRR1 AU NM_002042 exon9 c.24665-167G>C 0.744808 0.9286 Uncertain 6_89913092_C->G 6 89913092 89913092 C G snp 1127.77 0/1 99 99 52 47 0.47 intronic GABRR1 AU NM_002042 exon9 c.24665-61C>G Uncertain 6_89913108_C->G 6 89913108 89913108 C G snp 3475.77 1/1 99 120 0 120 1.0 intronic rs4590241 GABRR1 AU NM_002042 exon9 c.24665-45C>G 0.742212 0.9286 0.664847 0.6976 0.9132 Uncertain 6_89913112_G->A 6 89913112 89913112 G A snp 3561.77 1/1 99 127 0 127 1.0 intronic rs4457139 GABRR1 AU NM_002042 exon9 c.24665-41G>A 0.742212 0.9286 0.665078 0.6974 0.9132 Uncertain 6_89913209_C->T 6 89913209 89913209 C T snp 5405.77 1/1 99 203 0 203 1.0 splicing rs4590242 GABRR1 AU NM_001267582 exon9 c.24719+2C>T 0.742013 0.9286 0.665001 0.6974 0.9132 Pathogenic 6_89913218_T->A 6 89913218 89913218 T A snp 5199.77 1/1 99 193 0 193 1.0 intronic rs4445034 GABRR1 AU NM_001267582 exon9 c.24719+11T>A 0.783746 0.9296 0.697601 0.7202 0.9151 Uncertain 6_89913286_T->C 6 89913286 89913286 T C snp 3187.75 1/1 99 107 0 107 1.0 intronic rs4386788 GABRR1 AU NM_001267582 exon9 c.24719+79T>C 0.742412 0.9286 Uncertain 6_89914138_G->C 6 89914138 89914138 G C snp 44.74 1/1 6 2 0 2 1.0 intronic rs9342185 GABRR1 AU NM_001267582 exon10 c.25826-176G>C 0.316693 0.6806 Uncertain 6_89914187_T->C 6 89914187 89914187 T C snp 341.77 0/1 99 17 6 11 0.65 intronic rs2183797 GABRR1 AU NM_001267582 exon10 c.25826-127T>C 0.493211 0.7163 Uncertain 6_89914477_G->A 6 89914477 89914477 G A snp 520.77 1/1 39 17 0 17 1.0 intronic rs1556432 GABRR1 AU NM_001267582 exon10 c.25925+64G>A 0.947484 0.9742 Uncertain 6_89926962_T->C 6 89926962 89926962 T C snp 950.77 0/1 99 91 51 40 0.44 exonic rs1186902 GABRR1 AU nonsynonymous SNV NM_001256703 exon1 c.A80G p.H27R 0.230831 0.2857 0.214132 0.2611 0.2701 0.050 P -1.034 T 0.036 T 0.043 T Pathogenic 6_89974063_T->C 6 89974063 89974063 T C snp 2568.77 1/1 99 98 0 98 1.0 intronic rs723041 GABRR2 AU NM_002043 exon2 c.6742-67T>C 0.802716 0.7202 Uncertain 6_89975245_G->C 6 89975245 89975245 G C snp 256.8 1/1 21 7 0 7 1.0 intronic rs2273507 GABRR2 AU NM_002043 exon3 c.7943-86G>C 0.764976 0.6944 Uncertain 6_89977322_-->T 6 89977322 89977322 - T indel 3744.73 1/1 99 90 0 90 1.0 intronic rs397822542 GABRR2 AU NM_002043 exon4 c.10009-75insT 0.869409 0.7351 Uncertain 6_89977906_T->C 6 89977906 89977906 T C snp 231.77 0/1 99 12 5 7 0.58 intronic rs4707535 GABRR2 AU NM_002043 exon5 c.10427+91T>C 0.804313 0.7232 Uncertain 6_89981413_T->C 6 89981413 89981413 T C snp 2449.77 0/1 99 205 95 110 0.54 exonic rs282117 GABRR2 AU synonymous SNV NM_002043 exon3 c.A249G p.V83V 0.692292 0.7292 0.661848 0.6283 0.6911 Uncertain 6_90024761_T->C 6 90024761 90024761 T C snp 1558.77 0/1 99 131 64 67 0.51 intronic rs9344923 GABRR2 AU NM_002043 exon9 c.57383-10T>C 0.101438 0.1151 0.072505 0.0344 0.1170 Uncertain 6_90039670_G->C 6 90039670 90039670 G C snp 1499.77 0/1 99 116 50 66 0.57 exonic rs10502 UBE2J1 AU nonsynonymous SNV NM_016021 exon8 c.C685G p.L229V 0.682308 0.7391 0.524912 0.4956 0.6987 0.29 T 0.0 P -1.069 T 0.0 T 0.0 T Pathogenic 6_90062208_G->A 6 90062208 90062208 G A snp 730.77 0/1 99 65 34 31 0.48 intronic rs9353667 UBE2J1 AU NM_016021 exon8 c.22860-49G>A 0.0790735 0.2679 0.006528 0.0353 0.2572 Uncertain 6_90078049_G->T 6 90078049 90078049 G T snp 48.74 1/1 6 2 0 2 1.0 intronic rs16881772 RRAGD AU NM_021244 exon1 c.152+123G>T 0.124401 0.2649 Uncertain 6_90087602_T->C 6 90087602 90087602 T C snp 119.77 0/1 99 8 3 5 0.63 intronic rs6904589 RRAGD AU NM_021244 exon3 c.9758+70T>C 0.136581 0.2679 Uncertain 6_90089071_C->T 6 90089071 90089071 C T snp 1796.77 0/1 99 151 73 78 0.52 intronic rs73752750 RRAGD AU NM_021244 exon4 c.11283+14C>T 0.136981 0.2679 0.061433 0.0648 0.2977 Uncertain 6_90315789_A->G 6 90315789 90315789 A G snp 3063.77 1/1 99 107 0 107 1.0 exonic rs3748085 ANKRD6 AU nonsynonymous SNV NM_001242809 exon5 c.A382G p.I128V 0.781749 0.9077 0.801647 0.8356 0.9148 0.96 T 1.0 P -1.079 T 0.0 T 0.0 T Pathogenic 6_90321955_G->A 6 90321955 90321955 G A snp 1138.77 1/1 84 32 0 32 1.0 intronic rs2073272 ANKRD6 AU NM_014942 exon6 c.45295-35G>A 0.315096 0.6032 0.253157 0.2717 0.6257 Uncertain 6_90327873_G->A 6 90327873 90327873 G A snp 2886.77 1/1 99 100 0 100 1.0 intronic rs6909915 ANKRD6 AU NM_014942 exon9 c.51055+123G>A 0.702276 0.9067 0.6835 0.9041 Uncertain 6_90333058_T->A 6 90333058 90333058 T A snp 3413.77 1/1 99 133 0 133 1.0 intronic rs10944455 ANKRD6 AU NM_014942 exon11 c.56433-70T>A 0.5625 0.3284 Uncertain 6_90333599_A->G 6 90333599 90333599 A G snp 938.77 1/1 69 32 0 32 1.0 exonic rs17292811 ANKRD6 AU synonymous SNV NM_001242809 exon12 c.A1041G p.A347A 0.904153 0.997 0.851741 0.8651 0.9974 Uncertain 6_90334101_T->C 6 90334101 90334101 T C snp 806.77 1/1 60 22 0 22 1.0 intronic rs4487551 ANKRD6 AU NM_014942 exon13 c.57562-156T>C 0.90016 0.997 Uncertain 6_90338816_-->T 6 90338816 90338816 - T indel 160.86 1/1 2 10 1 9 0.9 intronic rs200010448 ANKRD6 AU NM_014942 exon15 c.62135-14insT 0.2794 0.3075 Uncertain 6_90338863_C->T 6 90338863 90338863 C T snp 1404.77 1/1 99 46 0 46 1.0 exonic rs9353687 ANKRD6 AU synonymous SNV NM_001242809 exon15 c.C1518T p.C506C 0.167931 0.2222 0.183466 0.1689 0.2180 1.0 P -0.801 T Likely benign 6_90340187_G->A 6 90340187 90340187 G A snp 1265.77 0/1 99 114 62 52 0.46 exonic rs9362667 ANKRD6 AU nonsynonymous SNV NM_001242809 exon16 c.G1648A p.A550T 0.019369 0.0883 0.000485 0.0103 0.1015 0.72 T 1.000 N -1.066 T 0.001 T 0.002 T ID=CM1213052;DIS=Muscle response to training, association with;TAG=DP;PUB=22580979 DP Pathogenic 6_90340276_G->A 6 90340276 90340276 G A snp 6225.77 1/1 99 225 0 225 1.0 exonic rs3210511 ANKRD6 AU synonymous SNV NM_001242809 exon16 c.G1737A p.S579S 0.600839 0.9077 0.514190 0.5286 0.8977 Uncertain 6_90340734_G->A 6 90340734 90340734 G A snp 2816.77 1/1 99 92 1 91 0.99 UTR3 rs9344950 ANKRD6 AU 0.161142 0.2212 0.165930 0.2251 0.3117 Uncertain 6_90360346_G->A 6 90360346 90360346 G A snp 210.84 1/1 18 6 0 6 1.0 ncRNA_intronic rs7768654 LOC101929057 AU 0.882588 0.997 Uncertain 6_90360757_A->G 6 90360757 90360757 A G snp 656.77 1/1 51 17 0 17 1.0 ncRNA_intronic rs9359858 LOC101929057 AU 0.882588 0.997 Uncertain 6_90361811_G->A 6 90361811 90361811 G A snp 1248.77 1/1 90 41 0 41 1.0 ncRNA_intronic rs761729 LOC101929057 AU 0.880591 0.997 Uncertain 6_90362090_T->G 6 90362090 90362090 T G snp 635.77 1/1 48 19 0 19 1.0 ncRNA_intronic rs9359859 LOC101929057 AU 0.161542 0.2222 Uncertain 6_90364244_C->A 6 90364244 90364244 C A snp 96.28 1/1 9 3 0 3 1.0 ncRNA_intronic rs879718 LOC101929057 AU 0.715655 0.9563 Uncertain 6_90366329_-->T 6 90366329 90366329 - T indel 44.73 0/1 77 14 7 7 0.5 ncRNA_intronic rs199499839 LOC101929057 AU 0.220447 0.2173 Uncertain 6_90371202_G->A 6 90371202 90371202 G A snp 3297.77 1/1 99 129 0 129 1.0 exonic rs9444701 MDN1 AU synonymous SNV NM_014611 exon88 c.C14661T p.L4887L 0.725439 0.9167 0.671998 0.6829 0.9014 Uncertain 6_90371704_G->A 6 90371704 90371704 G A snp 1899.77 1/1 99 55 0 55 1.0 ncRNA_intronic rs9294443 LOC101929057 AU 0.880791 0.997 Uncertain 6_90371986_C->T 6 90371986 90371986 C T snp 1563.77 1/1 99 46 0 46 1.0 ncRNA_intronic rs3818132 LOC101929057 AU 0.607428 0.9087 0.519068 0.5391 0.8926 Uncertain 6_90381849_A->G 6 90381849 90381849 A G snp 629.77 1/1 48 19 0 19 1.0 ncRNA_intronic rs7764076 LOC101929057 AU 0.933906 0.997 Uncertain 6_90383791_A->G 6 90383791 90383791 A G snp 1293.77 0/1 99 115 62 53 0.46 ncRNA_intronic rs201073001 LOC101929057 AU 0.00219649 0.0109 0.0005 0.0062 Uncertain 6_90385754_A->G 6 90385754 90385754 A G snp 1570.77 1/1 99 45 0 45 1.0 ncRNA_intronic rs9451261 LOC101929057 AU 0.881989 0.997 Uncertain 6_90387233_C->T 6 90387233 90387233 C T snp 3744.77 1/1 99 131 0 131 1.0 ncRNA_intronic rs6454769 LOC101929057 AU 0.830272 0.9643 Uncertain 6_90390443_C->A 6 90390443 90390443 C A snp 4695.77 1/1 99 168 1 167 0.99 exonic rs9353689 MDN1 AU nonsynonymous SNV NM_014611 exon74 c.G12130T p.A4044S 0.611821 0.9077 0.524988 0.5365 0.8937 0.81 T 0.0 P -0.917 T 0.145 T 0.048 T Pathogenic 6_90398197_T->C 6 90398197 90398197 T C snp 93.28 1/1 9 3 0 3 1.0 ncRNA_exonic rs769033 LOC101929057 AU 0.904752 0.997 Uncertain 6_90400292_C->T 6 90400292 90400292 C T snp 93.28 1/1 9 3 0 3 1.0 intronic rs954638 MDN1 AU NM_014611 exon39 c.46668-99C>T 0.830072 0.9633 Uncertain 6_90402482_G->A 6 90402482 90402482 G A snp 7059.77 1/1 99 249 0 249 1.0 exonic rs9294445 MDN1 AU nonsynonymous SNV NM_014611 exon63 c.C10267T p.H3423Y 0.604433 0.9077 0.512840 0.5272 0.8937 0.39 T 0.0 P -0.917 T 0.001 T 0.001 T Pathogenic 6_90402840_C->G 6 90402840 90402840 C G snp 3759.77 1/1 99 142 0 142 1.0 exonic rs9351212 MDN1 AU synonymous SNV NM_014611 exon63 c.G9909C p.L3303L 0.765375 0.9891 0.795556 0.7034 0.9915 Uncertain 6_90403606_C->T 6 90403606 90403606 C T snp 289.78 1/1 24 8 0 8 1.0 intronic rs1010922 MDN1 AU NM_014611 exon41 c.50069-186C>T 0.88099 0.997 Uncertain 6_90405306_T->A 6 90405306 90405306 T A snp 5042.77 1/1 99 180 0 180 1.0 intronic rs9294446 MDN1 AU NM_014611 exon42 c.51600-17T>A 0.933906 0.997 0.877441 0.8739 0.9992 Uncertain 6_90405993_C->G 6 90405993 90405993 C G snp 350.78 1/1 27 11 0 11 1.0 intronic rs9362672 MDN1 AU NM_014611 exon43 c.52355-85C>G 0.71905 0.9147 Uncertain 6_90415764_A->G 6 90415764 90415764 A G snp 3764.77 1/1 99 135 0 135 1.0 intronic rs7743484 MDN1 AU NM_014611 exon50 c.62054-13A>G 0.898962 0.997 0.843841 0.8627 0.9992 Uncertain 6_90416006_T->G 6 90416006 90416006 T G snp 528.77 1/1 39 17 0 17 1.0 intronic rs9344954 MDN1 AU NM_014611 exon50 c.62188+95T>G 0.164736 0.2212 Uncertain 6_90418262_C->T 6 90418262 90418262 C T snp 3149.77 1/1 99 110 0 110 1.0 exonic rs2026634 MDN1 AU synonymous SNV NM_014611 exon51 c.G7851A p.T2617T 0.881589 0.997 0.821621 0.8565 0.9990 Uncertain 6_90421718_A->G 6 90421718 90421718 A G snp 1300.77 0/1 99 87 38 49 0.56 intronic MDN1 AU NM_014611 exon54 c.68031-36A>G Uncertain 6_90422627_G->C 6 90422627 90422627 G C snp 498.77 1/1 39 16 0 16 1.0 intronic rs2013736 MDN1 AU NM_014611 exon55 c.68782+122G>C 0.878395 0.997 Uncertain 6_90426270_C->T 6 90426270 90426270 C T snp 507.77 1/1 39 13 0 13 1.0 intronic rs9342205 MDN1 AU NM_014611 exon59 c.72645-98C>T 0.880591 0.997 Uncertain 6_90426657_A->G 6 90426657 90426657 A G snp 1453.77 1/1 69 48 1 47 0.98 intronic rs2273244 MDN1 AU NM_014611 exon59 c.72805+129A>G 0.164537 0.2222 Uncertain 6_90428968_G->A 6 90428968 90428968 G A snp 1877.77 1/1 99 63 0 63 1.0 intronic rs6454774 MDN1 AU NM_014611 exon62 c.75221+24G>A 0.877596 0.997 0.815931 0.8557 0.9989 Uncertain 6_90432584_A->T 6 90432584 90432584 A T snp 382.77 1/1 30 12 0 12 1.0 intronic rs2016744 MDN1 AU NM_014611 exon63 c.78950-89A>T Uncertain 6_90432621_A->G 6 90432621 90432621 A G snp 1152.77 1/1 84 39 0 39 1.0 intronic rs764108 MDN1 AU NM_014611 exon63 c.78950-52A>G 0.164936 0.2222 Uncertain 6_90432662_C->T 6 90432662 90432662 C T snp 2097.77 1/1 99 79 0 79 1.0 intronic rs756363 MDN1 AU NM_014611 exon63 c.78950-11C>T 0.880791 0.997 0.819929 0.8567 0.9992 Uncertain 6_90437699_G->A 6 90437699 90437699 G A snp 4240.77 1/1 99 151 0 151 1.0 intronic rs7767196 MDN1 AU NM_014611 exon66 c.83951+25G>A 0.877596 0.997 0.817853 0.8570 0.9990 Uncertain 6_90448092_C->T 6 90448092 90448092 C T snp 5071.77 1/1 99 184 0 184 1.0 exonic rs4140446 MDN1 AU nonsynonymous SNV NM_014611 exon33 c.G4676A p.S1559N 0.878794 0.997 0.818315 0.8556 0.9992 0.49 T 0.0 P -0.974 T 0.001 T 0.002 T Pathogenic 6_90453248_T->C 6 90453248 90453248 T C snp 1151.77 1/1 84 37 0 37 1.0 intronic rs2273245 MDN1 AU NM_014611 exon73 c.99571-46T>C 0.605631 0.9077 0.512302 0.5363 0.8942 Uncertain 6_90453493_C->- 6 90453493 90453493 C - indel 7290.73 1/1 99 219 0 219 1.0 intronic rs11358713 MDN1 AU NM_014611 exon73 c.99710+60delC 0.878794 0.997 Uncertain 6_90455084_A->G 6 90455084 90455084 A G snp 3955.77 1/1 99 142 0 142 1.0 exonic rs9359861 MDN1 AU synonymous SNV NM_014611 exon29 c.T4086C p.H1362H 0.932308 0.997 0.875980 0.8718 0.9992 Uncertain 6_90455429_T->C 6 90455429 90455429 T C snp 436.77 1/1 33 12 0 12 1.0 intronic rs9444704 MDN1 AU NM_014611 exon75 c.101622+84T>C 0.77516 0.9484 Uncertain 6_90459454_G->A 6 90459454 90459454 G A snp 2475.77 1/1 99 88 1 87 0.99 exonic rs4053618 MDN1 AU synonymous SNV NM_014611 exon25 c.C3423T p.A1141A 0.845248 0.9187 0.851223 0.8248 0.9027 Uncertain 6_90461123_G->A 6 90461123 90461123 G A snp 3731.77 1/1 99 140 0 140 1.0 intronic rs4707563 MDN1 AU NM_014611 exon80 c.107426-26G>A 0.163538 0.2163 0.182454 0.1691 0.2178 Uncertain 6_90468465_C->A 6 90468465 90468465 C A snp 1813.77 1/1 94 60 2 58 0.97 intronic rs6937244 MDN1 AU NM_014611 exon85 c.114811-69C>A 0.828275 0.9127 Uncertain 6_90468775_C->G 6 90468775 90468775 C G snp 516.77 1/1 39 13 0 13 1.0 intronic rs6937789 MDN1 AU NM_014611 exon85 c.114956+96C>G 0.845847 0.9187 Uncertain 6_90481520_T->G 6 90481520 90481520 T G snp 723.77 1/1 54 20 0 20 1.0 intronic rs45628137 MDN1 AU NM_014611 exon88 c.127617+180T>G 0.164736 0.2163 Uncertain 6_90482397_T->C 6 90482397 90482397 T C snp 1438.77 1/1 99 48 0 48 1.0 exonic rs12110451 MDN1 AU nonsynonymous SNV NM_014611 exon14 c.A1978G p.I660V 0.164137 0.2163 0.183531 0.1675 0.2167 0.03 T 0.202 P -1.092 T 0.029 T 0.029 T Pathogenic 6_90497377_C->G 6 90497377 90497377 C G snp 56.74 1/1 6 2 0 2 1.0 intronic rs4707568 MDN1 AU NM_014611 exon95 c.143849-195C>G 0.747804 0.9226 Uncertain 6_90497589_A->C 6 90497589 90497589 A C snp 2650.77 1/1 99 98 0 98 1.0 exonic rs4707569 MDN1 AU nonsynonymous SNV NM_014611 exon8 c.T1318G p.F440V 0.153954 0.2163 0.173382 0.1660 0.2172 0.08 T 0.965 P -1.079 T 0.698 T 0.338 P Pathogenic 6_90497814_G->A 6 90497814 90497814 G A snp 141.03 1/1 12 4 0 4 1.0 intronic rs4707570 MDN1 AU NM_014611 exon95 c.143953+138G>A 0.950679 0.9673 Uncertain 6_90500130_C->T 6 90500130 90500130 C T snp 2789.77 1/1 99 100 0 100 1.0 intronic rs16882132 MDN1 AU NM_014611 exon97 c.146397+10C>T 0.153355 0.2163 0.171152 0.1648 0.2165 Uncertain 6_90529053_A->G 6 90529053 90529053 A G snp 1034.77 1/1 78 28 0 28 1.0 intronic rs9344961 MDN1 AU NM_014611 exon102 c.175501-171A>G 0.0688898 0.2133 Uncertain 6_90562748_G->A 6 90562748 90562748 G A snp 473.77 1/1 36 12 0 12 1.0 intronic rs62416019 CASP8AP2 AU NM_012115 exon3 c.6576-136G>A 0.13139 0.2133 Uncertain 6_90565242_A->G 6 90565242 90565242 A G snp 928.77 1/1 66 33 0 33 1.0 exonic rs369328 CASP8AP2 AU synonymous SNV NM_001137667 exon5 c.A279G p.K93K 0.422923 0.3006 0.453159 0.5280 0.3632 Uncertain 6_90583396_T->C 6 90583396 90583396 T C snp 467.77 1/1 36 19 0 19 1.0 intronic rs9344967 CASP8AP2 AU NM_012115 exon10 c.27213-125T>C 0.25 0.2202 0.279675 0.2781 0.2280 Uncertain 6_90605836_T->A 6 90605836 90605836 T A snp 757.77 1/1 57 23 0 23 1.0 downstream rs7738845 GJA10 AU 0.710264 0.9266 0.596058 0.6328 0.9107 Uncertain 6_90647759_G->C 6 90647759 90647759 G C snp 1445.77 0/1 99 96 41 55 0.57 intronic rs182382 BACH2 AU NM_001170794 exon2 c.5736-103G>C Uncertain 6_90660319_T->C 6 90660319 90660319 T C snp 1596.77 0/1 99 129 65 64 0.5 exonic rs9451298 BACH2 AU synonymous SNV NM_001170794 exon5 c.A1506G p.V502V 0.310503 0.2361 0.312932 0.2793 0.2285 Uncertain 6_90660754_G->A 6 90660754 90660754 G A snp 2805.77 0/1 99 250 134 116 0.46 exonic rs2236182 BACH2 AU synonymous SNV NM_001170794 exon5 c.C1071T p.P357P 0.0742812 0.2381 0.005151 0.0450 0.2558 Uncertain 6_90661576_T->C 6 90661576 90661576 T C snp 4496.77 1/1 99 157 0 157 1.0 exonic rs2236181 BACH2 AU synonymous SNV NM_001170794 exon5 c.A249G p.T83T 0.490815 0.6696 0.391981 0.4162 0.6769 Uncertain 6_91022755_G->C 6 91022755 91022755 G C snp 264.8 1/1 21 7 0 7 1.0 downstream rs911409 MIR4464 AU 0.441294 0.8542 Uncertain 6_91256928_A->T 6 91256928 91256928 A T snp 810.77 0/1 99 63 30 33 0.52 intronic rs2273567 MAP3K7 AU NM_003188 exon6 c.30757-48A>T 0.281749 0.3284 0.266185 0.3086 0.3239 Uncertain 6_91260116_T->C 6 91260116 91260116 T C snp 1201.77 0/1 99 78 28 50 0.64 intronic rs205343 MAP3K7 AU NM_003188 exon8 c.33967-70T>C 0.387181 0.3294 Uncertain 6_91266349_-->A 6 91266349 91266349 - A indel 484.73 0/1 99 81 46 35 0.43 splicing rs3215663 MAP3K7 AU NM_003188 exon11 c.40124+6insA 0.38139 0.3294 0.362460 0.3310 0.3224 Pathogenic 6_91269333_T->A 6 91269333 91269333 T A snp 866.77 0/1 99 68 36 32 0.47 intronic rs468155 MAP3K7 AU NM_003188 exon12 c.43575-461T>A 0.374201 0.3294 Uncertain 6_91269334_C->A 6 91269334 91269334 C A snp 910.77 0/1 99 70 36 34 0.49 intronic rs467667 MAP3K7 AU NM_003188 exon12 c.43575-460C>A 0.374201 0.3294 Uncertain 6_91271187_C->T 6 91271187 91271187 C T snp 46.77 0/1 33 3 1 2 0.67 intronic rs117361620 MAP3K7 AU NM_003188 exon13 c.45121-153C>T 0.00399361 0.0198 Uncertain 6_91278420_T->C 6 91278420 91278420 T C snp 311.77 0/1 99 27 15 12 0.44 intronic rs1145735 MAP3K7 AU NM_003188 exon14 c.52123+78T>C 0.142772 0.1091 Uncertain 6_91278482_C->T 6 91278482 91278482 C T snp 96.28 1/1 9 3 0 3 1.0 intronic rs157428 MAP3K7 AU NM_003188 exon14 c.52123+140C>T 0.992812 1 Uncertain 6_91281635_A->- 6 91281635 91281635 A - indel 100.37 1/1 8 11 1 10 0.91 intronic rs35467094 MAP3K7 AU NM_003188 exon15 c.55307+109delA 0.506589 0.4633 Uncertain 6_91296420_C->G 6 91296420 91296420 C G snp 1083.77 1/1 78 39 0 39 1.0 intronic rs282070 MAP3K7 AU NM_003188 exon16 c.70263-62C>G 0.657748 0.495 Uncertain 6_93956769_T->C 6 93956769 93956769 T C snp 524.77 0/1 99 38 19 19 0.5 intronic rs450238 EPHA7 AU NM_001288629 exon3 c.3560+66T>C 0.758187 0.8284 Uncertain 6_93964319_C->T 6 93964319 93964319 C T snp 648.77 0/1 99 42 19 23 0.55 intronic rs345736 EPHA7 AU NM_001288629 exon4 c.11221-45C>T 0.798123 0.8194 0.760305 0.7528 0.8072 Uncertain 6_93967851_C->T 6 93967851 93967851 C T snp 2726.77 0/1 99 245 127 118 0.48 exonic rs345730 EPHA7 AU synonymous SNV NM_004440 exon11 c.G2076A p.P692P 0.73123 0.8165 0.678302 0.7226 0.8037 Uncertain 6_93973686_A->C 6 93973686 93973686 A C snp 67.77 0/1 96 15 11 4 0.27 intronic rs901455 EPHA7 AU NM_001288629 exon9 c.20490+53A>C 0.509984 0.6429 0.436678 Uncertain 6_93979090_A->T 6 93979090 93979090 A T snp 104.77 0/1 99 10 6 4 0.4 intronic rs3757224 EPHA7 AU NM_004440 exon11 c.26051-104A>T 0.512979 0.6429 Uncertain 6_93982124_A->G 6 93982124 93982124 A G snp 1050.77 0/1 99 90 48 42 0.47 exonic rs345713 EPHA7 AU synonymous SNV NM_004440 exon6 c.T1341C p.S447S 0.900359 0.8214 0.915103 0.8735 0.8071 Uncertain 6_94067861_T->G 6 94067861 94067861 T G snp 179.77 0/1 99 18 8 10 0.56 intronic rs9345354 EPHA7 AU NM_001288629 exon14 c.114830-112T>G 0.220248 0.3452 Uncertain 6_94067981_C->T 6 94067981 94067981 C T snp 1801.77 0/1 99 154 71 83 0.54 exonic rs164544 EPHA7 AU synonymous SNV NM_004440 exon4 c.G981A p.A327A 0.730431 0.8294 0.636245 0.6284 0.8300 Uncertain 6_94120192_G->A 6 94120192 94120192 G A snp 928.77 0/1 99 72 34 38 0.53 intronic rs474809 EPHA7 AU NM_001288629 exon15 c.167075-26G>A 0.632987 0.6905 0.554906 0.5384 0.7032 Uncertain 6_94124530_C->A 6 94124530 94124530 C A snp 1068.77 0/1 99 84 35 49 0.58 intronic rs540816 EPHA7 AU NM_001288629 exon16 c.171342+45C>A 0.630391 0.6786 0.555914 0.5317 0.6904 Uncertain 6_96034869_-->TATA 6 96034869 96034869 - TATA indel 1539.73 1/1 78 43 0 43 1.0 intronic rs148967607 MANEA AU NM_024641 exon2 c.544+10insTATA 0.0642 0.2936 Uncertain 6_96650908_A->T 6 96650908 96650908 A T snp 618.77 1/1 48 18 0 18 1.0 intronic rs4307180 FUT9 AU 0.898363 0.995 Uncertain 6_96651740_A->G 6 96651740 96651740 A G snp 3755.77 1/1 99 124 0 124 1.0 exonic rs3811069 FUT9 AU nonsynonymous SNV NM_006581 exon3 c.A709G p.T237A 0.898363 0.995 0.900277 0.9688 0.9982 0.6 T 0.103 P -0.963 T 0.0 T 0.007 T Pathogenic 6_96971139_A->G 6 96971139 96971139 A G snp 850.77 0/1 99 61 29 32 0.52 exonic rs3811068 UFL1 AU synonymous SNV NM_015323 exon2 c.A195G p.E65E 0.0103834 0.0486 0.000231 0.0036 0.0447 Uncertain 6_96972003_T->C 6 96972003 96972003 T C snp 41.77 0/1 66 4 2 2 0.5 intronic UFL1 AU NM_015323 exon3 c.2508-254T>C Uncertain 6_96974386_A->G 6 96974386 96974386 A G snp 1574.77 1/1 59 58 3 55 0.95 intronic rs9320194 UFL1 AU NM_015323 exon5 c.4562+75A>G 0.920327 0.9563 Uncertain 6_96999220_G->C 6 96999220 96999220 G C snp 267.77 0/1 99 19 9 10 0.53 intronic rs2475024 UFL1 AU NM_015323 exon16 c.29559-88G>C 0.853235 0.9147 Uncertain 6_97058574_G->A 6 97058574 97058574 G A snp 2072.77 0/1 99 213 114 99 0.46 exonic rs2252816 FHL5 AU nonsynonymous SNV NM_001170807 exon5 c.G631A p.V211M 0.337859 0.5625 0.282639 0.3860 0.5649 0.06 T 0.000 P -0.793 T 0.484 P 0.23 P Pathogenic 6_97339078_A->G 6 97339078 97339078 A G snp 2084.77 1/1 99 75 0 75 1.0 exonic rs6684 NDUFAF4 AR,XD,AO synonymous SNV NM_014165 exon3 c.T430C p.L144L 0.514976 0.755 0.469240 0.5178 0.7268 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000117707.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 6_97339088_C->T 6 97339088 97339088 C T snp 2030.77 1/1 99 72 0 72 1.0 exonic rs11402 NDUFAF4 AR,XD,AO synonymous SNV NM_014165 exon3 c.G420A p.Q140Q 0.933906 0.999 0.892170 0.8944 0.9991 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000117706.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 6_97339275_-->A 6 97339275 97339275 - A indel 1101.87 1/1 15 65 5 60 0.92 intronic rs34213186 NDUFAF4 AR,XD,AO NM_014165 exon1 c.288+8insA 0.670128 0.6954 0.672607 0.6070 0.6511 Uncertain 6_97575196_C->T 6 97575196 97575196 C T snp 453.77 0/1 99 50 32 18 0.36 intronic rs2206094 KLHL32 AU NM_001286250 exon7 c.160343-83C>T 0.53115 0.246 Uncertain 6_97575423_G->C 6 97575423 97575423 G C snp 222.77 0/1 99 17 8 9 0.53 intronic rs1612775 KLHL32 AU NM_001286250 exon7 c.160402+85G>C 0.538938 0.246 Uncertain 6_97578888_A->G 6 97578888 97578888 A G snp 364.77 0/1 99 37 23 14 0.38 intronic rs2387931 KLHL32 AU NM_001286250 exon8 c.163889+63A>G 0.417332 0.245 Uncertain 6_97597584_C->G 6 97597584 97597584 C G snp 117.77 0/1 99 7 3 4 0.57 intronic rs3818845 MMS22L AU NM_198468 exon2 c.3047-144C>G 0.104633 0.2401 Uncertain 6_97613163_T->C 6 97613163 97613163 T C snp 1578.77 0/1 99 132 64 68 0.52 exonic rs1209290 MMS22L AU synonymous SNV NM_198468 exon21 c.A3180G p.P1060P 0.510783 0.246 0.568430 0.4923 0.2221 Uncertain 6_97626374_A->G 6 97626374 97626374 A G snp 530.77 0/1 99 65 36 29 0.45 exonic rs1737145 MMS22L AU nonsynonymous SNV NM_198468 exon18 c.T2624C p.V875A 0.41254 0.245 0.457363 0.4366 0.2209 0.27 T 0.045 P -1.057 T 0.675 T 0.13 P Pathogenic 6_97629689_C->A 6 97629689 97629689 C A snp 147.77 0/1 99 11 6 5 0.45 intronic rs1206171 MMS22L AU NM_198468 exon10 c.35098-90C>A 0.510184 0.246 Uncertain 6_97726491_T->G 6 97726491 97726491 T G snp 220.84 1/1 18 6 0 6 1.0 intronic rs9387212 MMS22L AU NM_198468 exon22 c.132043-233T>G 0.494808 0.7718 Uncertain 6_97726878_A->T 6 97726878 97726878 A T snp 309.78 1/1 24 8 0 8 1.0 intronic rs2388033 MMS22L AU NM_198468 exon22 c.132093+104A>T 0.495208 0.7718 Uncertain 6_98472564_G->C 6 98472564 98472564 G C snp 2030.77 1/1 99 72 0 72 1.0 downstream rs9375085 MIR2113 AU 0.138778 0.1786 Uncertain 6_99283376_T->G 6 99283376 99283376 T G snp 1694.77 1/1 99 64 0 64 1.0 exonic rs195860 POU3F2 AU synonymous SNV NM_005604 exon1 c.T627G p.G209G 0.890575 0.9544 0.884529 0.8653 0.9495 Uncertain 6_99322354_C->T 6 99322354 99322354 C T snp 2229.77 1/1 99 74 0 74 1.0 intronic rs3765239 FBXL4 AR NM_001278716 exon1 c.164+37C>T 0.249201 0.496 0.139419 0.1790 0.4802 Uncertain 6_99328730_G->A 6 99328730 99328730 G A snp 178.9 1/1 15 5 0 5 1.0 intronic rs195831 FBXL4 AR NM_001278716 exon3 c.6347+230G>A 0.713858 0.7262 Uncertain 6_99353162_A->G 6 99353162 99353162 A G snp 155.77 0/1 99 12 6 6 0.5 intronic rs72627757 FBXL4 AR NM_001278716 exon5 c.31148-139A>G 0.0732827 0.1925 Uncertain 6_99572765_A->G 6 99572765 99572765 A G snp 412.77 1/1 33 13 0 13 1.0 intergenic rs114569756 FBXL4 AR 0.160543 0.2937 Uncertain 6_99572772_T->- 6 99572772 99572772 T - indel 277.75 1/1 24 8 0 8 1.0 intergenic rs35787630 FBXL4 AR 0.497804 0.377 Uncertain 6_99771540_T->C 6 99771540 99771540 T C snp 4300.77 1/1 99 149 0 149 1.0 exonic rs221527 FAXC AU synonymous SNV NM_032511 exon4 c.A603G p.T201T 0.947284 0.999 0.884899 0.8830 0.9994 Uncertain 6_99781218_G->A 6 99781218 99781218 G A snp 1482.77 0/1 99 92 40 52 0.57 intronic rs11757364 FAXC AU NM_032511 exon4 c.52187-8G>A 0.284545 0.1865 0.385745 0.3820 0.1904 Uncertain 6_99796886_T->G 6 99796886 99796886 T G snp 1321.77 1/1 96 39 0 39 1.0 intronic rs2388906 FAXC AU NM_032511 exon6 c.67943-96T>G 0.943091 0.999 Uncertain 6_99817419_-->C 6 99817419 99817419 - C indel 844.73 0/1 99 51 28 23 0.45 UTR3 rs11437017 COQ3 AU 0.836062 0.8641 Uncertain 6_99817601_A->G 6 99817601 99817601 A G snp 2342.77 1/1 99 91 0 91 1.0 exonic rs4144164 COQ3 AU nonsynonymous SNV NM_017421 exon7 c.T985C p.Y329H 0.949081 1 0.942411 0.9844 1 1 T 0.001 P -0.976 T 0.0 T 0.0 T Pathogenic 6_99817713_T->A 6 99817713 99817713 T A snp 107.77 0/1 99 16 9 7 0.44 intronic rs59537968 COQ3 AU NM_017421 exon1 c.221+17T>A 0.00998403 0.0446 0.0036 0.0427 Uncertain 6_99819379_T->C 6 99819379 99819379 T C snp 891.77 0/1 99 76 32 44 0.58 exonic rs6925344 COQ3 AU nonsynonymous SNV NM_017421 exon6 c.A814G p.S272G 0.836062 0.8641 0.794326 0.8480 0.8627 0.9 T 0.000 P -0.950 T 0.0 T 0.0 T Pathogenic 6_99825348_T->C 6 99825348 99825348 T C snp 2264.77 0/1 99 166 73 93 0.56 exonic rs11548336 COQ3 AU nonsynonymous SNV NM_017421 exon4 c.A400G p.K134E 0.318291 0.496 0.291481 0.3117 0.4837 0.4 T 1.0 P -0.981 T 0.061 T 0.028 T Pathogenic 6_99841907_T->G 6 99841907 99841907 T G snp 991.77 1/1 72 33 0 33 1.0 intronic rs9389317 COQ3 AU NM_017421 exon7 c.24474-42T>G 0.581869 0.8016 0.474858 0.5373 0.8105 Uncertain 6_99842056_C->A 6 99842056 99842056 C A snp 2019.77 1/1 99 84 0 84 1.0 UTR5 rs9376137 COQ3 AU 0.297125 0.501 0.177764 0.2598 0.5128 Uncertain 6_99842138_C->T 6 99842138 99842138 C T snp 889.77 1/1 69 25 0 25 1.0 upstream rs9376138 COQ3 AU 0.465655 0.7917 Uncertain 6_99850730_C->T 6 99850730 99850730 C T snp 141.03 1/1 12 4 0 4 1.0 intronic rs9389328 PNISR AU NM_015491 exon2 c.2171+144C>T 0.581869 0.8006 Uncertain 6_99853866_G->A 6 99853866 99853866 G A snp 1416.77 1/1 99 45 0 45 1.0 intronic rs7744072 PNISR AU NM_015491 exon5 c.5491-40G>A 0.96226 1 0.956405 0.9889 1 Uncertain 6_99860747_T->C 6 99860747 99860747 T C snp 816.77 1/1 60 26 0 26 1.0 intronic rs9321539 PNISR AU NM_015491 exon9 c.12200+132T>C 0.582468 0.8026 Uncertain 6_99883694_T->C 6 99883694 99883694 T C snp 2318.77 1/1 99 87 0 87 1.0 exonic rs9402791 USP45 AU synonymous SNV NM_001080481 exon18 c.A2343G p.A781A 0.291933 0.503 0.169691 0.2520 0.5109 Uncertain 6_99883704_T->C 6 99883704 99883704 T C snp 2108.77 1/1 99 79 0 79 1.0 exonic rs6570065 USP45 AU nonsynonymous SNV NM_001080481 exon18 c.A2333G p.N778S 0.985024 1 0.978856 0.9949 1 0.77 T 1.000 P -0.942 T 0.0 T 0.0 T Pathogenic 6_99883842_C->T 6 99883842 99883842 C T snp 143.03 1/1 12 6 0 6 1.0 intronic rs7745005 USP45 AU NM_001080481 exon1 c.131+120C>T 0.985024 1 Uncertain 6_99893938_T->C 6 99893938 99893938 T C snp 2369.77 0/1 99 188 89 99 0.53 exonic rs4504482 USP45 AU synonymous SNV NM_001080481 exon14 c.A1710G p.G570G 0.350839 0.4871 0.273182 0.3381 0.4984 Uncertain 6_99894361_AAAGA->- 6 99894361 99894365 AAAGA - indel 1894.73 0/1 99 51 14 37 0.73 intronic rs398066092 USP45 AU NM_001080481 exon5 c.10748+22_10748+26delAAAGA 0.375998 0.4871 0.276929 0.3634 0.4989 Uncertain 6_99912329_T->G 6 99912329 99912329 T G snp 44.77 0/1 31 4 2 2 0.5 intronic rs6922192 USP45 AU NM_001080481 exon6 c.28888-150T>G 0.353035 0.4901 Uncertain 6_99915802_TTAG->- 6 99915802 99915805 TTAG - indel 643.73 0/1 99 21 10 11 0.52 intronic rs145136727 USP45 AU NM_001080481 exon9 c.32821-610_32821-607delTTAG 0.579073 0.7669 Uncertain 6_99916182_G->A 6 99916182 99916182 G A snp 116.77 0/1 66 6 2 4 0.67 intronic rs10457650 USP45 AU NM_001080481 exon9 c.32821-230G>A 0.395966 0.2331 Uncertain 6_99935975_G->A 6 99935975 99935975 G A snp 3305.77 1/1 99 120 0 120 1.0 intronic rs2181687 USP45 AU NM_001080481 exon12 c.52484-100G>A 0.935104 0.999 Uncertain 6_99951750_G->A 6 99951750 99951750 G A snp 744.77 1/1 54 24 0 24 1.0 intronic rs6934692 USP45 AU NM_001080481 exon14 c.68150+9G>A 0.935104 0.999 0.851064 0.8489 0.9993 Uncertain 6_99955243_-->A 6 99955243 99955243 - A indel 492.73 1/1 38 22 1 21 0.95 intronic rs11410603 USP45 AU NM_001080481 exon15 c.71712-60insA 0.695088 0.8165 Uncertain 6_99956560_T->C 6 99956560 99956560 T C snp 1432.77 0/1 99 156 88 68 0.44 exonic rs7744845 USP45 AU nonsynonymous SNV NM_001080481 exon3 c.A199G p.K67E 0.329872 0.5546 0.229545 0.3277 0.5673 0.4 T 1.000 P -0.688 T 1.0 D 0.999 D Pathogenic 6_99973893_G->A 6 99973893 99973893 G A snp 852.77 0/1 99 78 38 40 0.51 intronic rs10223892 TSTD3 AU 0.20647 0.1409 Uncertain 6_99993188_C->A 6 99993188 99993188 C A snp 163.77 0/1 99 12 5 7 0.58 intronic rs330806 CCNC AU NM_005190 exon2 c.1676+82C>A 0.452875 0.5288 Uncertain 6_100006244_T->G 6 100006244 100006244 T G snp 156.9 1/1 15 8 0 8 1.0 intronic rs486881 CCNC AU NM_005190 exon8 c.14942-128T>G 0.934904 0.9931 0.8575 0.9916 Uncertain 6_100014918_T->C 6 100014918 100014918 T C snp 814.77 0/1 99 62 30 32 0.52 intronic rs9484032 CCNC AU NM_005190 exon12 c.24941-1453T>C 0.292332 0.369 0.3024 0.3538 Uncertain 6_100016240_A->G 6 100016240 100016240 A G snp 2198.77 1/1 99 66 0 66 1.0 intronic rs330872 CCNC AU NM_005190 exon12 c.24941-131A>G 0.934904 0.9931 Uncertain 6_100368759_G->A 6 100368759 100368759 G A snp 952.77 1/1 72 27 0 27 1.0 UTR3 rs4839764 MCHR2 AU 0.985423 1 Uncertain 6_100841229_G->T 6 100841229 100841229 G T snp 86.77 0/1 33 5 2 3 0.6 intronic rs3778038 SIM1 AR,AD,AO NM_005068 exon2 c.3126-133G>T 0.433107 0.7401 Uncertain 6_100868721_G->A 6 100868721 100868721 G A snp 1453.77 1/1 99 57 0 57 1.0 exonic rs3734355 SIM1 AR,AD,AO nonsynonymous SNV NM_005068 exon9 c.C1112T p.A371V 0.178514 0.4067 0.100800 0.1716 0.4258 0.31 T 0.193 P -0.997 T 0.003 T 0.007 T Pathogenic 6_100868779_G->T 6 100868779 100868779 G T snp 1264.77 1/1 90 49 1 48 0.98 exonic rs3734354 SIM1 AR,AD,AO nonsynonymous SNV NM_005068 exon9 c.C1054A p.P352T 0.178115 0.4067 0.100646 0.1728 0.4271 0.14 T 1.000 P -0.979 T 0.052 T 0.017 T Pathogenic 6_100895344_C->T 6 100895344 100895344 C T snp 1107.77 0/1 99 112 63 49 0.44 intronic rs397662 SIM1 AR,AD,AO NM_005068 exon4 c.57055+53C>T 0.937899 0.9792 Uncertain 6_100964147_G->C 6 100964147 100964147 G C snp 1493.77 0/1 99 117 49 68 0.58 exonic rs240780 ASCC3 AU nonsynonymous SNV NM_006828 exon39 c.C5984G p.S1995C 0.767772 0.7857 0.681993 0.6592 0.7698 0.24 T 1.0 P -1.100 T 0.0 T 0.0 T ID=CM064987;DIS=Colorectal cancer, increased risk, association with;TAG=DP;PUB=17000706 DP Pathogenic 6_101037718_T->A 6 101037718 101037718 T A snp 257.77 0/1 99 16 8 8 0.5 intronic rs1006398 ASCC3 AU NM_006828 exon7 c.80383+74T>A 0.394968 0.5238 Uncertain 6_101053726_C->T 6 101053726 101053726 C T snp 411.77 0/1 99 22 10 12 0.55 intronic rs7452753 ASCC3 AU NM_006828 exon10 c.96315+150C>T 0.247804 0.2153 Uncertain 6_101054999_C->T 6 101054999 101054999 C T snp 801.77 0/1 99 72 39 33 0.46 intronic rs395521 ASCC3 AU NM_006828 exon12 c.97703+35C>T 0.574081 0.7302 0.550831 0.5386 0.7411 Uncertain 6_101075968_A->- 6 101075968 101075968 A - indel 131.73 0/1 99 25 14 11 0.44 intronic rs375769163 ASCC3 AU NM_006828 exon15 c.118602+105delA Uncertain 6_101090377_C->A 6 101090377 101090377 C A snp 191.77 0/1 99 12 5 7 0.58 intronic rs239245 ASCC3 AU NM_006828 exon19 c.133195-79C>A 0.571086 0.7302 Uncertain 6_101094554_A->G 6 101094554 101094554 A G snp 1190.77 0/1 99 124 72 52 0.42 exonic rs239239 ASCC3 AU synonymous SNV NM_006828 exon22 c.T3570C p.P1190P 0.571286 0.7302 0.549131 0.5419 0.7450 Uncertain 6_101099217_A->G 6 101099217 101099217 A G snp 80.77 0/1 99 6 3 3 0.5 intronic rs239236 ASCC3 AU NM_006828 exon24 c.142174-218A>G 0.536941 0.6855 Uncertain 6_101100528_A->G 6 101100528 101100528 A G snp 34.77 0/1 63 5 3 2 0.4 intronic rs239235 ASCC3 AU NM_006828 exon25 c.143339-72A>G 0.571086 0.7302 Uncertain 6_101100783_T->C 6 101100783 101100783 T C snp 1407.77 0/1 99 122 63 59 0.48 intronic rs9399641 ASCC3 AU NM_006828 exon25 c.143504+18T>C 0.248602 0.2153 0.348585 0.3685 0.2322 Uncertain 6_101163433_A->C 6 101163433 101163433 A C snp 304.77 0/1 99 30 16 14 0.47 intronic rs9403997 ASCC3 AU NM_001284271 exon1 c.117+24A>C 0.398363 0.5248 0.410395 0.4646 0.5713 Uncertain 6_101166095_G->A 6 101166095 101166095 G A snp 1921.77 0/1 99 133 54 79 0.59 exonic rs41288423 ASCC3 AU synonymous SNV NM_006828 exon12 c.C1935T p.L645L 0.458666 0.3135 0.484007 0.4817 0.3019 Uncertain 6_101215224_A->- 6 101215224 101215224 A - indel 2219.73 1/1 99 85 0 85 1.0 splicing rs11345864 ASCC3 AU NM_001284271 exon5 c.51929+3delA 0.969649 1 0.9895 0.9985 Pathogenic 6_101215244_A->G 6 101215244 101215244 A G snp 783.77 0/1 99 69 40 29 0.42 intronic rs7746961 ASCC3 AU NM_001284271 exon5 c.51929+23A>G 0.648562 0.7411 0.545287 0.5681 0.7247 Uncertain 6_101247503_T->C 6 101247503 101247503 T C snp 729.77 0/1 99 49 23 26 0.53 intronic rs3811078 ASCC3 AU NM_001284271 exon7 c.84156+55T>C 0.648363 0.7411 Uncertain 6_101248474_T->C 6 101248474 101248474 T C snp 54.74 1/1 6 2 0 2 1.0 intronic rs9322212 ASCC3 AU NM_001284271 exon8 c.85088+94T>C 0.648363 0.7411 Uncertain 6_101248480_T->C 6 101248480 101248480 T C snp 50.74 1/1 6 2 0 2 1.0 intronic rs9322213 ASCC3 AU NM_001284271 exon8 c.85088+100T>C 0.589657 0.5734 Uncertain 6_101253788_A->T 6 101253788 101253788 A T snp 142.77 0/1 99 21 14 7 0.33 intronic rs4839792 ASCC3 AU NM_001284271 exon9 c.90464+32A>T 0.647963 0.7411 0.546490 0.5711 0.7237 Uncertain 6_101296389_G->A 6 101296389 101296389 G A snp 1819.77 0/1 99 143 71 72 0.5 exonic rs9390698 ASCC3 AU nonsynonymous SNV NM_006828 exon4 c.C436T p.L146F 0.245407 0.2331 0.350454 0.3651 0.2457 0.08 T 1.0 P -0.920 T 0.037 T 0.018 T Pathogenic 6_101307131_C->T 6 101307131 101307131 C T snp 1657.77 0/1 99 203 121 82 0.4 intronic rs3734351 ASCC3 AU NM_022091 exon1 c.95+53C>T 0.173323 0.3145 0.090889 Uncertain 6_101312097_C->T 6 101312097 101312097 C T snp 1309.77 1/1 93 51 0 51 1.0 intronic rs846791 ASCC3 AU NM_001284271 exon11 c.148798+7C>T 0.980032 0.9901 0.965948 0.9605 0.9840 Uncertain 6_101312104_T->C 6 101312104 101312104 T C snp 1121.77 1/1 81 45 0 45 1.0 intronic rs705600 ASCC3 AU NM_001284271 exon11 c.148798+14T>C 0.666733 0.752 0.713790 0.6888 0.7701 Uncertain 6_102133993_G->A 6 102133993 102133993 G A snp 179.77 0/1 99 14 7 7 0.5 intronic rs2852565 GRIK2 AR NM_175768 exon6 c.286901-61G>A 0.460463 0.498 Uncertain 6_102134022_C->G 6 102134022 102134022 C G snp 436.77 0/1 99 34 17 17 0.5 intronic rs2786251 GRIK2 AR NM_175768 exon6 c.286901-32C>G 0.459065 0.498 0.372520 0.3327 0.4931 Uncertain 6_102247673_T->C 6 102247673 102247673 T C snp 1290.77 0/1 99 113 60 53 0.47 intronic rs6922753 GRIK2 AR NM_175768 exon7 c.400513+7T>C 0.415136 0.6905 0.239197 0.2537 0.6903 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000117158.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 6_102339655_G->A 6 102339655 102339655 G A snp 208.77 0/1 99 37 26 11 0.3 intronic GRIK2 AR NM_175768 exon11 c.490585+1917G>A Uncertain 6_105300070_-->TG 6 105300070 105300070 - TG indel 357.73 0/1 84 33 11 22 0.67 intronic rs201776642 HACE1 AR NM_020771 exon23 c.122655-121insTG 0.217053 0.3313 Uncertain 6_105300105_C->T 6 105300105 105300105 C T snp 622.77 0/1 99 45 17 28 0.62 intronic rs2499662 HACE1 AR NM_020771 exon23 c.122655-86C>T 0.493411 0.4206 Uncertain 6_105300262_-->AG 6 105300262 105300262 - AG indel 3488.73 1/1 99 69 0 69 1.0 intronic rs10635352 HACE1 AR NM_020771 exon23 c.122710+16insAG 0.620008 0.5933 0.659770 0.6682 0.5905 Uncertain 6_105307435_G->A 6 105307435 105307435 G A snp 5863.77 1/1 99 223 0 223 1.0 intronic rs2499655 HACE1 AR NM_020771 exon24 c.129905-6G>A 0.438099 0.5893 0.378149 0.5276 0.5247 Uncertain 6_105388405_T->G 6 105388405 105388405 T G snp 290.77 0/1 99 31 18 13 0.42 upstream rs7766336 LINC00577 AU Uncertain 6_105405220_-->C 6 105405220 105405220 - C indel 608.73 1/1 60 22 0 22 1.0 intronic rs397766737 LIN28B AU NM_001004317 exon1 c.10+85insC 0.982029 0.997 Uncertain 6_105506242_G->A 6 105506242 105506242 G A snp 135.03 1/1 12 5 0 5 1.0 intronic rs221626 LIN28B AU NM_001004317 exon4 c.121163-20046G>A 0.819888 0.8254 Uncertain 6_105548850_C->T 6 105548850 105548850 C T snp 791.77 1/1 60 22 0 22 1.0 UTR3 rs221657 BVES AR 0.956669 0.9345 Uncertain 6_105577172_A->G 6 105577172 105577172 A G snp 222.84 1/1 18 6 0 6 1.0 intronic rs9404603 BVES AR NM_001199563 exon6 c.28290-81A>G 0.853435 0.9355 Uncertain 6_105577224_A->C 6 105577224 105577224 A C snp 1187.77 1/1 90 40 0 40 1.0 intronic rs9404604 BVES AR NM_001199563 exon6 c.28290-29A>C 0.769968 0.9097 0.8931 0.9061 Uncertain 6_105577401_C->T 6 105577401 105577401 C T snp 3204.83 1/1 99 122 0 122 1.0 intronic rs4946656 BVES AR NM_001199563 exon6 c.28415+23C>T 0.853435 0.9355 0.866908 0.9261 0.9254 Uncertain 6_105595261_G->A 6 105595261 105595261 G A snp 3712.77 1/1 99 120 0 120 1.0 ncRNA_splicing rs1190274 BVES-AS1 AU 0.911542 0.9405 0.9320 0.9465 Uncertain 6_105595367_T->A 6 105595367 105595367 T A snp 125.78 0/1 27 5 1 4 0.8 ncRNA_intronic rs1190275 BVES-AS1 AU 0.292931 0.4415 Uncertain 6_105602108_T->G 6 105602108 105602108 T G snp 1649.77 1/1 99 49 0 49 1.0 ncRNA_intronic rs1190280 BVES-AS1 AU 0.828275 0.9177 Uncertain 6_105609136_T->C 6 105609136 105609136 T C snp 96.28 1/1 9 3 0 3 1.0 ncRNA_intronic rs1190285 BVES-AS1 AU 0.909345 0.9405 Uncertain 6_105614712_T->G 6 105614712 105614712 T G snp 1079.77 1/1 81 32 0 32 1.0 ncRNA_intronic rs1190292 BVES-AS1 AU 0.652356 0.8879 Uncertain 6_105614744_TG->- 6 105614744 105614745 TG - indel 251.77 1/1 21 23 0 23 1.0 ncRNA_intronic rs67687316 BVES-AS1 AU 0.762979 0.8899 Uncertain 6_105726036_C->T 6 105726036 105726036 C T snp 1014.77 0/1 99 98 50 48 0.49 exonic rs1051484 PREP AU nonsynonymous SNV NM_002726 exon15 c.G2116A p.V706I 0.342252 0.1964 0.315316 0.2172 0.1949 0.81 T 0.000 P -0.967 T 0.0 T 0.001 T Pathogenic 6_105736502_G->A 6 105736502 105736502 G A snp 116.77 0/1 66 7 2 5 0.71 intronic rs9784893 PREP AU NM_002726 exon5 c.10614-130G>A 0.0944489 0.0456 Uncertain 6_105845906_G->A 6 105845906 105845906 G A snp 260.77 0/1 99 17 7 10 0.59 intronic rs6910880 PREP AU NM_002726 exon14 c.119784+104G>A 0.462061 0.1935 Uncertain 6_105850712_A->G 6 105850712 105850712 A G snp 1393.77 0/1 99 137 72 65 0.47 intronic rs880177 PREP AU NM_002726 exon15 c.124703-9A>G 0.334864 0.2103 0.299668 0.3661 0.2998 Uncertain 6_106554550_T->C 6 106554550 106554550 T C snp 276.77 0/1 99 25 14 11 0.44 intronic rs117456337 PRDM1 AU NM_001198 exon6 c.19946+176T>C 0.0125799 0.0526 Uncertain 6_106808699_-->TGGCA 6 106808699 106808699 - TGGCA indel 379.73 0/1 99 18 12 6 0.33 intergenic ATG5 AU Uncertain 6_106899411_G->A 6 106899411 106899411 G A snp 343.77 0/1 99 19 7 12 0.63 intergenic rs1417353 ATG5 AU 0.758986 0.8304 Uncertain 6_106899793_C->T 6 106899793 106899793 C T snp 891.77 1/1 66 25 0 25 1.0 intergenic rs7763469 ATG5 AU 1 1 Uncertain 6_106959139_A->G 6 106959139 106959139 A G snp 619.77 1/1 48 18 0 18 1.0 upstream rs11752122 AIM1 AU 0.279353 0.5109 Uncertain 6_106959424_A->G 6 106959424 106959424 A G snp 5131.77 1/1 99 184 1 183 0.99 upstream rs4946758 AIM1 AU 0.263379 0.5109 0.2320 0.53 Uncertain 6_106959961_A->G 6 106959961 106959961 A G snp 2653.77 1/1 99 79 0 79 1.0 UTR5 rs4946759 AIM1 AU 0.665136 0.6081 0.8206 0.5972 Uncertain 6_106959999_C->G 6 106959999 106959999 C G snp 2954.77 1/1 99 92 0 92 1.0 UTR5 rs1340623 AIM1 AU 0.752796 0.7232 0.8828 0.7469 0.04 T 0.017 P -0.978 T Uncertain 6_106960039_G->A 6 106960039 106960039 G A snp 3543.77 1/1 99 136 2 134 0.99 UTR5 rs4945755 AIM1 AU 0.272364 0.5139 0.2468 0.55 Uncertain 6_106960957_C->T 6 106960957 106960957 C T snp 738.77 1/1 54 26 1 25 0.96 intronic rs1381552 AIM1 AU NM_001624 exon1 c.698+43C>T 0.278355 0.5159 0.131609 0.2460 0.5492 Uncertain 6_106967778_T->C 6 106967778 106967778 T C snp 7687.77 1/1 99 250 0 250 1.0 exonic rs3747787 AIM1 AU nonsynonymous SNV NM_001624 exon2 c.T1471C p.C491R 0.174121 0.1161 0.218130 0.2037 0.0928 0.37 T 0.000 P -1.090 T 0.001 T 0.002 T Pathogenic 6_106987161_A->G 6 106987161 106987161 A G snp 1897.77 1/1 99 63 0 63 1.0 intronic rs783397 AIM1 AU NM_001624 exon7 c.27061-116A>G 0.666933 0.877 Uncertain 6_106987370_A->C 6 106987370 106987370 A C snp 6958.77 1/1 99 250 0 250 1.0 exonic rs783396 AIM1 AU nonsynonymous SNV NM_001624 exon7 c.A3587C p.E1196A 0.935903 0.9335 0.928648 0.9325 0.9448 0.49 T 1.000 P -1.070 T 0.0 T 0.005 T Pathogenic 6_106989212_G->A 6 106989212 106989212 G A snp 3539.77 1/1 99 129 0 129 1.0 intronic rs783392 AIM1 AU NM_001624 exon8 c.29244-248G>A 0.640375 0.877 0.588704 0.5991 0.8663 Uncertain 6_106992464_A->G 6 106992464 106992464 A G snp 2176.77 1/1 99 78 0 78 1.0 exonic rs1799693 AIM1 AU synonymous SNV NM_001624 exon10 c.A3834G p.K1278K 0.96885 1 0.944948 0.9469 0.9999 Uncertain 6_106992592_A->T 6 106992592 106992592 A T snp 2656.77 1/1 99 89 0 89 1.0 intronic rs2247335 AIM1 AU NM_001624 exon10 c.32356+20A>T 0.833466 0.9345 0.797632 0.8694 0.9463 Uncertain 6_106992844_C->G 6 106992844 106992844 C G snp 963.77 1/1 69 33 0 33 1.0 intronic rs2066201 AIM1 AU NM_001624 exon11 c.32592+36C>G 0.833666 0.9345 0.797478 0.8683 0.9466 Uncertain 6_106999658_A->T 6 106999658 106999658 A T snp 1558.77 1/1 99 52 0 52 1.0 intronic rs1676010 AIM1 AU NM_001624 exon12 c.39510-68A>T 0.879193 0.9286 Uncertain 6_107006336_G->C 6 107006336 107006336 G C snp 2909.77 1/1 99 88 0 88 1.0 intronic rs9320179 AIM1 AU NM_001624 exon16 c.46144-24G>C 0.167931 0.1696 0.148470 0.1443 0.1391 Uncertain 6_107006620_T->A 6 107006620 107006620 T A snp 1086.77 1/1 81 27 0 27 1.0 intronic rs11964773 AIM1 AU NM_001624 exon16 c.46284+120T>A 0.0700879 0.1002 Uncertain 6_107011930_T->C 6 107011930 107011930 T C snp 172.9 1/1 15 5 0 5 1.0 intronic rs9400027 AIM1 AU NM_001624 exon19 c.51585+129T>C 0.970847 1 Uncertain 6_107019880_A->G 6 107019880 107019880 A G snp 3829.77 1/1 99 143 0 143 1.0 exonic rs9486410 RTN4IP1 AR synonymous SNV NM_032730 exon9 c.T1182C p.N394N 0.185503 0.1696 0.169845 0.1319 0.1272 Uncertain 6_107019994_G->T 6 107019994 107019994 G T snp 6103.77 1/1 99 226 0 226 1.0 intronic rs9486411 RTN4IP1 AR NM_032730 exon1 c.108+16G>T 0.185104 0.1696 0.169691 0.1316 0.1273 Uncertain 6_107020088_A->G 6 107020088 107020088 A G snp 2875.77 1/1 99 97 0 97 1.0 intronic rs9486412 RTN4IP1 AR NM_032730 exon1 c.108+110A>G 0.161542 0.1696 Uncertain 6_107020092_G->A 6 107020092 107020092 G A snp 2687.77 1/1 99 91 1 90 0.99 intronic rs9486413 RTN4IP1 AR NM_032730 exon1 c.108+114G>A 0.161542 0.1696 Uncertain 6_107050867_A->T 6 107050867 107050867 A T snp 694.77 1/1 51 24 0 24 1.0 intronic rs6568446 RTN4IP1 AR NM_032730 exon5 c.30927+70A>T 0.888379 0.8333 0.940403 Uncertain 6_107069109_C->G 6 107069109 107069109 C G snp 102.28 1/1 9 5 0 5 1.0 intronic rs73761709 RTN4IP1 AR NM_032730 exon7 c.49429-190C>G 0.0634984 0.0992 Uncertain 6_107069232_G->A 6 107069232 107069232 G A snp 1626.77 1/1 99 54 0 54 1.0 intronic rs1870868 RTN4IP1 AR NM_032730 exon7 c.49429-67G>A 0.987819 1 Uncertain 6_107069273_T->C 6 107069273 107069273 T C snp 3067.77 1/1 99 110 0 110 1.0 intronic rs1870867 RTN4IP1 AR NM_032730 exon7 c.49429-26T>C 0.446286 0.626 0.331001 0.3140 0.6336 Uncertain 6_107069410_T->C 6 107069410 107069410 T C snp 4972.77 1/1 99 198 0 198 1.0 intronic rs55832745 RTN4IP1 AR NM_032730 exon7 c.49498+42T>C 0.0634984 0.0992 0.035599 0.0488 0.0764 Uncertain 6_107076783_A->T 6 107076783 107076783 A T snp 2407.77 1/1 99 86 1 85 0.99 exonic rs1987623 RTN4IP1 AR synonymous SNV NM_032730 exon1 c.T114A p.P38P 0.467252 0.622 0.376595 0.3516 0.6295 Uncertain 6_107100396_A->G 6 107100396 107100396 A G snp 6867.77 1/1 99 250 0 250 1.0 exonic rs34221917 QRSL1 AU nonsynonymous SNV NM_018292 exon7 c.A788G p.N263S 0.0547125 0.0913 0.035061 0.0506 0.0804 0.1 T 1 N -1.036 T 0.593 P 0.486 P Pathogenic 6_107351293_G->T 6 107351293 107351293 G T snp 787.77 0/1 99 75 40 35 0.47 UTR5 rs9486499 C6orf203 AU 0.194289 0.3452 0.1416 0.3392 Uncertain 6_107351457_G->T 6 107351457 107351457 G T snp 2000.77 1/1 99 67 0 67 1.0 intronic rs1665924 C6orf203 AU NM_001142470 exon2 c.3+146G>T 0.939097 1 Uncertain 6_107361476_A->G 6 107361476 107361476 A G snp 575.77 1/1 45 19 0 19 1.0 intronic rs311207 C6orf203 AU NM_001142468 exon2 c.470+42A>G 0.940895 1 0.942787 0.9703 0.9998 Uncertain 6_107365340_A->T 6 107365340 107365340 A T snp 156.77 0/1 99 11 5 6 0.55 intronic C6orf203 AU NM_001142468 exon3 c.4499-123A>T 0.00539137 0.0268 Uncertain 6_107365411_G->T 6 107365411 107365411 G T snp 747.77 1/1 54 26 0 26 1.0 intronic rs311249 C6orf203 AU NM_001142468 exon3 c.4499-52G>T 0.930112 1 0.937144 Uncertain 6_107372212_C->T 6 107372212 107372212 C T snp 537.77 0/1 99 40 20 20 0.5 intronic C6orf203 AU NM_001142468 exon4 c.11296-48C>T 0.178714 0.3413 0.086377 0.1176 0.3530 Uncertain 6_107391807_G->A 6 107391807 107391807 G A snp 208.77 0/1 99 18 11 7 0.39 exonic rs61734159 BEND3 AU synonymous SNV NM_001080450 exon5 c.C588T p.I196I 0.0453275 0.0625 0.022297 0.0163 0.0605 Uncertain 6_107419679_A->G 6 107419679 107419679 A G snp 152.77 0/1 99 10 5 5 0.5 intronic BEND3 AU NM_001080450 exon2 c.29847-75A>G 0.182308 0.3671 Uncertain 6_107533265_G->A 6 107533265 107533265 G A snp 2933.77 1/1 99 92 0 92 1.0 intronic rs3734677 PDSS2 AR NM_020381 exon4 c.57490-47G>A 0.185903 0.249 0.150008 0.1404 0.2638 Uncertain 6_107655358_A->C 6 107655358 107655358 A C snp 1127.77 1/1 81 40 0 40 1.0 intronic rs3764914 PDSS2 AR NM_020381 exon7 c.179579-43A>C 0.053115 0.1944 0.011379 0.0247 0.1952 Uncertain 6_107780479_C->G 6 107780479 107780479 C G snp 2134.77 1/1 99 65 0 65 1.0 exonic rs3734676 PDSS2 AR nonsynonymous SNV NM_020381 exon1 c.G11C p.R4P 0.0241613 0.0982 0.002384 0.0145 0.1223 0.08 T 0.490 P -1.073 T 0.003 T 0.005 T CLINSIG=non-pathogenic;CLNDBN=not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000127444.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Pathogenic 6_107780483_A->G 6 107780483 107780483 A G snp 2013.77 1/1 99 62 0 62 1.0 exonic rs3734675 PDSS2 AR nonsynonymous SNV NM_020381 exon1 c.T7C p.F3L 0.0241613 0.0982 0.002153 0.0145 0.1224 1 T 0.000 P -1.029 T 0.0 T 0.0 T CLINSIG=non-pathogenic;CLNDBN=not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000127443.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Pathogenic 6_107956095_A->G 6 107956095 107956095 A G snp 1421.77 1/1 99 54 0 54 1.0 exonic rs9486659 SOBP AR nonsynonymous SNV NM_018013 exon6 c.A2047G p.S683G 0.979633 1 0.9888 1 0.61 T 0.000 P -1.005 T 0.0 T 0.0 T CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000118399.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 6_108026317_G->T 6 108026317 108026317 G T snp 2685.77 1/1 99 94 0 94 1.0 UTR3 rs1546962 SCML4 AU 0.922524 0.8998 Uncertain 6_108026402_A->C 6 108026402 108026402 A C snp 4408.77 1/1 99 168 1 167 0.99 UTR3 rs1546961 SCML4 AU 0.859225 0.7321 0.874945 0.8988 0.6917 Uncertain 6_108026455_A->G 6 108026455 108026455 A G snp 3914.77 1/1 99 143 0 143 1.0 exonic rs1546960 SCML4 AU synonymous SNV NM_001286409 exon4 c.T468C p.P156P 0.899561 0.8998 0.891590 0.9165 0.8664 Uncertain 6_108028879_C->T 6 108028879 108028879 C T snp 80.77 0/1 99 6 3 3 0.5 intronic rs3862834 SCML4 AU NM_001286409 exon2 c.2666-190C>T 0.703874 0.5387 Uncertain 6_108028967_T->C 6 108028967 108028967 T C snp 725.77 0/1 99 58 30 28 0.48 intronic rs6921672 SCML4 AU NM_001286409 exon2 c.2666-102T>C 0.110823 0.1637 Uncertain 6_108029020_T->C 6 108029020 108029020 T C snp 1714.77 0/1 99 150 82 68 0.45 intronic rs3734752 SCML4 AU NM_001286409 exon2 c.2666-49T>C 0.28774 0.4762 0.219641 0.2568 0.5 Uncertain 6_108029109_T->C 6 108029109 108029109 T C snp 2653.77 0/1 99 250 133 117 0.47 exonic rs3734754 SCML4 AU synonymous SNV NM_001286409 exon3 c.A354G p.P118P 0.224641 0.369 0.185064 0.1993 0.3958 Uncertain 6_108041801_G->T 6 108041801 108041801 G T snp 345.77 0/1 99 22 9 13 0.59 intronic rs11751218 SCML4 AU NM_001286409 exon3 c.15503-105G>T 0.519169 0.505 Uncertain 6_108042213_G->A 6 108042213 108042213 G A snp 2675.77 1/1 99 101 0 101 1.0 intronic rs846977 SCML4 AU NM_001286409 exon3 c.15794+16G>A 0.926917 0.9167 0.915193 0.9230 0.9079 Uncertain 6_108042334_T->C 6 108042334 108042334 T C snp 915.77 1/1 69 29 0 29 1.0 intronic rs846978 SCML4 AU NM_001286409 exon3 c.15794+137T>C 0.927716 0.9157 Uncertain 6_108042380_G->T 6 108042380 108042380 G T snp 147.77 0/1 57 7 2 5 0.71 intronic rs74514008 SCML4 AU NM_001286409 exon3 c.15794+183G>T 0.066893 0.0605 Uncertain 6_108093328_G->A 6 108093328 108093328 G A snp 734.77 1/1 54 28 0 28 1.0 intronic rs9480798 SCML4 AU NM_198081 exon7 c.66972-47G>A 0.948283 0.9821 0.9773 0.9859 Uncertain 6_108093580_C->T 6 108093580 108093580 C T snp 863.77 1/1 63 29 0 29 1.0 UTR5 rs6909292 SCML4 AU 0.457069 0.7262 0.406264 0.5015 0.7673 Uncertain 6_108193148_C->T 6 108193148 108193148 C T snp 655.77 1/1 48 21 0 21 1.0 intronic rs642954 SEC63 AD NM_007214 exon1 c.144+97C>T 0.96905 0.9087 Uncertain 6_108194241_T->C 6 108194241 108194241 T C snp 1507.77 1/1 99 51 0 51 1.0 intronic rs579120 SEC63 AD NM_007214 exon2 c.1209+125T>C 0.96905 0.9087 Uncertain 6_108197998_A->G 6 108197998 108197998 A G snp 101.28 1/1 9 5 0 5 1.0 intronic rs570558 SEC63 AD NM_007214 exon3 c.4959+132A>G 0.96905 0.9087 Uncertain 6_108219063_T->C 6 108219063 108219063 T C snp 73.77 0/1 99 10 6 4 0.4 intronic rs9373986 SEC63 AD NM_007214 exon8 c.26028+128T>C 0.110823 0.1974 Uncertain 6_108224422_A->C 6 108224422 108224422 A C snp 1209.77 0/1 99 99 56 43 0.43 intronic rs2272886 SEC63 AD NM_007214 exon10 c.31295+220A>C 0.751997 0.7063 Uncertain 6_108233929_G->A 6 108233929 108233929 G A snp 376.77 0/1 99 39 22 17 0.44 exonic rs675117 SEC63 AD synonymous SNV NM_007214 exon6 c.C564T p.N188N 0.855032 0.7113 0.875365 0.8589 0.7208 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000081500.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 6_108243121_A->G 6 108243121 108243121 A G snp 371.77 0/1 99 68 45 23 0.34 intronic rs1569556 SEC63 AD NM_007214 exon18 c.50206+8A>G 0.267971 0.2143 0.0005 0 Uncertain 6_108243122_A->G 6 108243122 108243122 A G snp 347.77 0/1 99 63 42 21 0.33 intronic rs1569555 SEC63 AD NM_007214 exon18 c.50206+9A>G 0.267971 0.2143 0.0015 0 Uncertain 6_108243124_AC->- 6 108243124 108243125 AC - indel 1894.73 1/1 99 65 0 65 1.0 intronic rs139413431 SEC63 AD NM_007214 exon18 c.50206+11_50206+12delAC 0.4795 0.4791 Uncertain 6_108277287_C->A 6 108277287 108277287 C A snp 1139.77 1/1 81 47 0 47 1.0 intronic rs9486756 SEC63 AD NM_007214 exon21 c.86182-1802C>A 0.966054 0.9087 0.9742 0.9248 Uncertain 6_108279290_G->A 6 108279290 108279290 G A snp 2325.77 1/1 99 73 0 73 1.0 UTR5 rs2272884 SEC63 AD 0.925719 0.9087 Uncertain 6_108543544_A->G 6 108543544 108543544 A G snp 1716.77 0/1 99 169 93 76 0.45 intronic rs78738549 SNX3 AU NM_003795 exon3 c.10801-609A>G 0.0131789 0.0496 0.0030 0.0658 Uncertain 6_108544367_G->C 6 108544367 108544367 G C snp 254.77 0/1 99 14 4 10 0.71 intronic rs12524095 SNX3 AU NM_003795 exon3 c.10897+118G>C 0.0131789 0.0496 Uncertain 6_108677003_G->A 6 108677003 108677003 G A snp 2001.77 1/1 99 78 1 77 0.99 intronic rs2135941 LACE1 AU NM_145315 exon4 c.60676+44G>A 0.992812 1 0.992619 0.9972 1 Uncertain 6_108678157_A->G 6 108678157 108678157 A G snp 139.03 1/1 12 4 0 4 1.0 intronic rs6908664 LACE1 AU NM_145315 exon5 c.61741+133A>G 0.640974 0.8333 Uncertain 6_109179277_G->A 6 109179277 109179277 G A snp 644.77 1/1 48 16 0 16 1.0 intronic rs9374052 ARMC2 AU NM_032131 exon3 c.3931-124G>A 0.0802716 0.1895 Uncertain 6_109190267_A->T 6 109190267 109190267 A T snp 135.03 1/1 12 4 0 4 1.0 intronic rs2806362 ARMC2 AU NM_032131 exon4 c.14728+69A>T 0.775759 0.7927 Uncertain 6_109197379_T->C 6 109197379 109197379 T C snp 1299.77 1/1 96 44 0 44 1.0 exonic rs9386758 ARMC2 AU nonsynonymous SNV NM_001286609 exon4 c.T2C p.M1T 0.08127 0.1964 0.015224 0.0576 0.2272 0.27 T 0.0 P -0.988 T 0.0 T 0.0 T Pathogenic 6_109233518_A->G 6 109233518 109233518 A G snp 729.77 1/1 54 23 0 23 1.0 ncRNA_intronic rs9400252 ARMC2-AS1 AU 0.0856629 0.1905 0.021867 0.0649 0.2375 Uncertain 6_109233725_T->C 6 109233725 109233725 T C snp 1780.77 1/1 99 64 0 64 1.0 exonic rs11153136 ARMC2 AU synonymous SNV NM_001286609 exon9 c.T819C p.G273G 0.0858626 0.1905 0.022067 0.0574 0.2146 Uncertain 6_109257988_C->A 6 109257988 109257988 C A snp 467.77 1/1 36 13 0 13 1.0 intronic rs9386765 ARMC2 AU NM_001286609 exon11 c.60725-114C>A 0.0790735 0.1925 Uncertain 6_109258284_T->C 6 109258284 109258284 T C snp 1482.77 1/1 99 43 0 43 1.0 intronic rs2768558 ARMC2 AU NM_001286609 exon11 c.60825+82T>C 0.329473 0.4018 Uncertain 6_109258336_T->C 6 109258336 109258336 T C snp 258.8 1/1 21 7 0 7 1.0 intronic rs2768557 ARMC2 AU NM_001286609 exon11 c.60825+134T>C 0.728235 0.8185 Uncertain 6_109283430_G->A 6 109283430 109283430 G A snp 347.77 0/1 99 26 14 12 0.46 intronic rs2295736 ARMC2 AU NM_001286609 exon14 c.85953+100G>A 0.00259585 0.0129 Uncertain 6_109286367_TC->- 6 109286367 109286368 TC - indel 969.73 0/1 99 63 34 29 0.46 intronic rs140864257 ARMC2 AU NM_001286609 exon16 c.88966+24_88966+25delTC 0.0529153 0.0536 0.018850 0.0404 0.0567 Uncertain 6_109560470_G->T 6 109560470 109560470 G T snp 85.77 0/1 72 7 3 4 0.57 intronic rs138064518 LOC100996634 AU NM_001277339 exon2 c.2667-60G>T 0.000798722 0.004 Uncertain 6_109586062_C->T 6 109586062 109586062 C T snp 1553.77 0/1 99 138 72 66 0.48 exonic rs949882 LOC100996634 AU nonsynonymous SNV NM_001277339 exon8 c.C1255T p.P419S 0.400359 0.4643 0.3278 0.5 Pathogenic 6_109586240_A->G 6 109586240 109586240 A G snp 432.77 0/1 99 23 10 13 0.57 intronic rs949881 LOC100996634 AU NM_001277339 exon8 c.28296+81A>G 0.400359 0.4643 Uncertain 6_109586311_T->C 6 109586311 109586311 T C snp 37.77 0/1 66 4 2 2 0.5 intronic rs9374068 LOC100996634 AU NM_001277339 exon8 c.28296+152T>C 0.187101 0.3433 Uncertain 6_109591208_C->A 6 109591208 109591208 C A snp 536.77 0/1 99 65 39 26 0.4 intronic rs9386784 LOC100996634 AU NM_001277339 exon10 c.33378-33C>A 0.400559 0.4643 0.4814 0.5833 Uncertain 6_109591433_T->C 6 109591433 109591433 T C snp 755.77 0/1 99 47 20 27 0.57 exonic rs9400262 LOC100996634 AU synonymous SNV NM_001277339 exon10 c.T1638C p.N546N 0.400359 0.4643 0.3384 0.5101 Uncertain 6_109591586_A->G 6 109591586 109591586 A G snp 111.77 0/1 99 7 3 4 0.57 UTR3 rs9374072 LOC100996634 AU 0.400559 0.4643 0.4841 0.5333 Uncertain 6_109621494_T->C 6 109621494 109621494 T C snp 1057.77 0/1 99 79 36 43 0.54 ncRNA_intronic rs6927569 CCDC162P AU 0.559704 0.4048 0.4785 0.4091 Uncertain 6_109629486_A->G 6 109629486 109629486 A G snp 99.28 1/1 9 3 0 3 1.0 downstream rs9487057 CCDC162P AU 0.24361 0.2758 Uncertain 6_109659589_-->CACACACA 6 109659589 109659589 - CACACACA indel 861.73 0/1 99 41 23 18 0.44 intergenic CCDC162P AU Uncertain 6_109662641_G->C 6 109662641 109662641 G C snp 67.77 0/1 96 16 11 5 0.31 intergenic rs117913016 CCDC162P AU 0.0429313 0.0754 0.0416 0.1122 Uncertain 6_109665129_C->G 6 109665129 109665129 C G snp 215.77 0/1 99 17 9 8 0.47 intergenic rs10457190 CCDC162P AU Uncertain 6_109665191_C->T 6 109665191 109665191 C T snp 387.77 0/1 99 45 24 21 0.47 intergenic rs10457191 CCDC162P AU 0.0822684 0.1875 0.0839 0.1888 Uncertain 6_109669704_G->A 6 109669704 109669704 G A snp 681.77 0/1 99 74 46 28 0.38 intergenic rs117544795 CCDC162P AU 0.0345447 0.0764 0.0416 0.1244 Uncertain 6_109673933_T->C 6 109673933 109673933 T C snp 1115.77 0/1 99 73 29 44 0.6 intergenic rs1040284 CCDC162P AU 0.309505 0.3492 Uncertain 6_109674055_C->T 6 109674055 109674055 C T snp 2817.77 0/1 99 249 121 128 0.51 intergenic rs11153174 CCDC162P AU 0.30631 0.3492 0.3640 0.3347 Uncertain 6_109689431_A->G 6 109689431 109689431 A G snp 2548.77 1/1 99 90 0 90 1.0 UTR3 rs974034 CD164 AD 0.571885 0.5109 Uncertain 6_109699359_C->T 6 109699359 109699359 C T snp 387.77 1/1 30 10 0 10 1.0 intronic rs1407620 CD164 AD NM_001142401 exon3 c.9121+185C>T 0.76278 0.8333 Uncertain 6_109703391_C->T 6 109703391 109703391 C T snp 1074.77 1/1 81 38 0 38 1.0 intronic rs1885691 CD164 AD NM_001142401 exon5 c.13353-15C>T 0.573482 0.5119 0.537878 0.5879 0.6455 Uncertain 6_109703727_C->A 6 109703727 109703727 C A snp 176.77 0/1 99 16 9 7 0.44 UTR5 rs1322816 CD164 AD 0.313299 0.3512 Uncertain 6_109721228_A->C 6 109721228 109721228 A C snp 1666.77 0/1 99 139 71 68 0.49 intronic rs4946972 PPIL6 AU NM_001111298 exon2 c.7209-9A>C 0.0890575 0.1032 0.061126 0.0863 0.0946 Uncertain 6_109748392_G->A 6 109748392 109748392 G A snp 110.77 0/1 99 11 7 4 0.36 intronic rs12204742 PPIL6 AU NM_001111298 exon6 c.34331+33G>A 0.0982428 0.1865 0.029394 0.0731 0.1904 Uncertain 6_109752565_-->A 6 109752565 109752565 - A indel 164.27 1/1 1 42 2 40 0.95 intronic rs397706053 PPIL6 AU NM_001111298 exon7 c.38520+17insA 0.298604 0.0956 0.0428 Uncertain 6_109761437_A->G 6 109761437 109761437 A G snp 5140.77 1/1 99 199 0 199 1.0 intronic rs4945831 PPIL6 AU NM_001111298 exon9 c.47630-221A>G 0.553315 0.4534 0.5261 0.5 Uncertain 6_109761545_G->A 6 109761545 109761545 G A snp 1012.77 0/1 99 104 59 45 0.43 intronic rs140277965 PPIL6 AU NM_001111298 exon9 c.47630-113G>A 0.0407348 0.0764 0.0515 0.1383 Uncertain 6_109762236_G->A 6 109762236 109762236 G A snp 753.77 0/1 99 69 39 30 0.43 UTR5 rs1048203 PPIL6 AU 0.3127 0.3502 Uncertain 6_109762332_C->T 6 109762332 109762332 C T snp 1869.77 0/1 99 214 129 85 0.4 exonic rs1048197 SMPD2 AU nonsynonymous SNV NM_003080 exon1 c.C8T p.P3L 0.110024 0.1885 0.042288 0.0748 0.1902 0.13 T 0.614 P -1.010 T 0.011 T 0.004 T Pathogenic 6_109762600_A->C 6 109762600 109762600 A C snp 1054.77 0/1 99 80 39 41 0.51 exonic rs749621 SMPD2 AU synonymous SNV NM_003080 exon2 c.A91C p.R31R 0.0976438 0.1032 0.066662 0.0887 0.0952 Uncertain 6_109763948_C->- 6 109763948 109763948 C - indel 2536.73 0/1 99 143 62 81 0.57 intronic rs35444917 SMPD2 AU NM_003080 exon7 c.1630-6delC 0.224241 0.1032 0.199441 0.1358 0.0953 Uncertain 6_109764535_G->T 6 109764535 109764535 G T snp 5849.77 1/1 99 220 3 217 0.99 exonic rs1476387 SMPD2 AU nonsynonymous SNV NM_003080 exon9 c.G795T p.R265S 0.552915 0.4534 0.514993 0.4767 0.4704 0.83 T 0.0 P -1.004 T 0.0 T 0.0 T Pathogenic 6_109765788_G->C 6 109765788 109765788 G C snp 46.78 0/1 27 3 1 2 0.67 intronic rs2146411 MICAL1 AU NM_001159291 exon2 c.534-139G>C 0.113419 0.1032 Uncertain 6_109765818_C->G 6 109765818 109765818 C G snp 139.77 0/1 99 11 6 5 0.45 intronic rs2236582 MICAL1 AU NM_001159291 exon2 c.534-109C>G 0.3125 0.3502 Uncertain 6_109767631_-->GTGGTCTGGTCAGTGACCTGCCCAGG 6 109767631 109767631 - GTGGTCTGGTCAGTGACCTGCCCAGG indel 19665.7 1/1 99 83 0 83 1.0 intronic rs377055229 MICAL1 AU NM_001159291 exon7 c.2222+16insGTGGTCTGGTCAGTGACCTGCCCAGG 0.561901 0.4544 0.510266 0.4852 0.4574 Uncertain 6_109767930_G->T 6 109767930 109767930 G T snp 1262.77 1/1 90 49 0 49 1.0 exonic rs9320288 MICAL1 AU nonsynonymous SNV NM_001159291 exon17 c.C2015A p.A672E 0.557109 0.4514 0.483392 0.4910 0.4671 1 T 0.0 P -0.942 T 0.0 T 0.0 T Pathogenic 6_109767931_C->T 6 109767931 109767931 C T snp 239.77 0/1 99 48 32 16 0.33 exonic rs59056467 MICAL1 AU nonsynonymous SNV NM_001159291 exon17 c.G2014A p.A672T 0.311302 0.3482 0.225588 0.3367 0.3712 0.48 T 0.0 P -1.007 T 0.004 T 0.001 T Pathogenic 6_109768295_G->A 6 109768295 109768295 G A snp 2453.77 1/1 99 94 0 94 1.0 exonic rs910730 MICAL1 AU synonymous SNV NM_001159291 exon16 c.C1950T p.Y650Y 0.551518 0.4504 0.513840 0.4767 0.4689 Uncertain 6_109768557_C->T 6 109768557 109768557 C T snp 1412.77 0/1 99 114 54 60 0.53 splicing MICAL1 AU NM_001159291 exon10 c.3166-2C>T Pathogenic 6_109768713_G->A 6 109768713 109768713 G A snp 301.77 0/1 99 19 9 10 0.53 intronic rs41288560 MICAL1 AU NM_001159291 exon10 c.3250+70G>A 0.104832 0.1042 Uncertain 6_109769216_A->C 6 109769216 109769216 A C snp 237.77 0/1 99 15 6 9 0.6 intronic rs4946975 MICAL1 AU NM_001159291 exon12 c.3773+50A>C 0.106629 0.1359 0.067801 0.1027 0.1392 Uncertain 6_109769337_CACACACA->- 6 109769337 109769344 CACACACA - indel 1129.73 0/1 39 13 1 12 0.92 intronic rs111385895 MICAL1 AU NM_001159291 exon13 c.4012-68_4012-61delCACACACA 0.553914 0.4554 Uncertain 6_109770808_T->C 6 109770808 109770808 T C snp 414.77 0/1 99 21 8 13 0.62 intronic rs752260 MICAL1 AU NM_001159291 exon16 c.5466-51T>C 0.0972444 0.1032 0.070806 Uncertain 6_109770999_G->C 6 109770999 109770999 G C snp 1105.77 0/1 99 99 60 39 0.39 intronic rs752262 MICAL1 AU NM_001159291 exon16 c.5593+13G>C 0.300919 0.3502 0.285868 0.3368 0.3744 Uncertain 6_109773375_G->T 6 109773375 109773375 G T snp 742.77 0/1 99 53 26 27 0.51 intronic rs41288562 MICAL1 AU NM_001159291 exon19 c.8055-73G>T 0.0197684 0.0119 Uncertain 6_109775366_C->T 6 109775366 109775366 C T snp 1213.77 0/1 99 89 41 48 0.54 exonic rs4946977 MICAL1 AU nonsynonymous SNV NM_001159291 exon2 c.G34A p.A12T 0.11222 0.1032 0.081385 0.1226 0.1325 0.53 T 0.0 P -0.978 T 0.168 T 0.028 T Pathogenic 6_109775436_T->C 6 109775436 109775436 T C snp 1230.77 1/1 90 41 0 41 1.0 exonic rs2277113 MICAL1 AU synonymous SNV NM_001286613 exon2 c.A21G p.S7S 0.553714 0.4554 0.535043 0.5459 0.5215 Uncertain 6_109786980_T->C 6 109786980 109786980 T C snp 3865.77 1/1 99 145 0 145 1.0 UTR5;UTR3 rs3734652 MICAL1;ZBTB24 UN 0.5627 0.498 Uncertain 6_109787534_C->G 6 109787534 109787534 C G snp 2019.77 0/1 99 169 88 81 0.48 exonic rs778764491 ZBTB24 AR nonsynonymous SNV NM_014797 exon7 c.G1614C p.Q538H 8.239e-06 0.0001 0.01 T 0.995 D -1.050 T 0.149 T 0.046 T Pathogenic 6_109796655_T->C 6 109796655 109796655 T C snp 1498.77 0/1 99 162 100 62 0.38 exonic rs548726702 ZBTB24 AR nonsynonymous SNV NM_014797 exon5 c.A1235G p.H412R 1.648e-05 0.0001 0.05 T 0.938 D -0.946 T 0.0 T 0.001 T Pathogenic 6_109797304_A->G 6 109797304 109797304 A G snp 4951.77 1/1 99 175 1 174 0.99 intronic rs2236084 ZBTB24 AR NM_014797 exon4 c.10324-73A>G 0.562899 0.498 Uncertain 6_109797373_C->T 6 109797373 109797373 C T snp 2873.77 0/1 99 249 128 121 0.49 splicing rs80351559 ZBTB24 AR NM_014797 exon4 c.10324-4C>T 0.000798722 0.004 0.000077 0.0008 0.0099 Pathogenic 6_109815351_T->C 6 109815351 109815351 T C snp 901.77 0/1 99 107 64 43 0.4 intronic rs7755941 AK9 AU NM_001145128 exon2 c.727+53T>C 0.380591 0.378 Uncertain 6_109815440_A->G 6 109815440 109815440 A G snp 317.77 0/1 99 24 12 12 0.5 intronic rs7773950 AK9 AU NM_001145128 exon2 c.727+142A>G 0.35024 0.378 Uncertain 6_109818456_A->G 6 109818456 109818456 A G snp 74.77 0/1 69 5 2 3 0.6 intronic rs2024850 AK9 AU NM_001145128 exon4 c.4096-211A>G 0.380591 0.378 Uncertain 6_109818563_A->T 6 109818563 109818563 A T snp 78.77 0/1 99 36 30 6 0.17 intronic rs34643089 AK9 AU NM_001145128 exon4 c.4096-104A>T Uncertain 6_109818565_A->T 6 109818565 109818565 A T snp 201.77 0/1 99 38 27 11 0.29 intronic rs34249116 AK9 AU NM_001145128 exon4 c.4096-102A>T Uncertain 6_109818567_T->A 6 109818567 109818567 T A snp 75.77 0/1 99 37 29 8 0.22 intronic rs3932480 AK9 AU NM_001145128 exon4 c.4096-100T>A Uncertain 6_109818975_A->G 6 109818975 109818975 A G snp 771.77 0/1 99 57 29 28 0.49 intronic rs189818350 AK9 AU NM_001145128 exon5 c.4427-23A>G 0.000798722 0.002 0.000154 0.0015 0.0046 Uncertain 6_109827716_C->T 6 109827716 109827716 C T snp 1521.77 0/1 99 134 70 64 0.48 exonic rs2277114 AK9 AU nonsynonymous SNV NM_001145128 exon35 c.G4663A p.V1555I 0.380391 0.378 0.355015 0.4475 0.4635 1.000 P -1.079 T 0.0 T 0.0 T Pathogenic 6_109830298_C->T 6 109830298 109830298 C T snp 3144.77 1/1 99 109 0 109 1.0 intronic rs6912368 AK9 AU NM_001145128 exon9 c.15810-83C>T 0.806709 0.9901 Uncertain 6_109837229_C->T 6 109837229 109837229 C T snp 1107.77 0/1 99 104 55 49 0.47 exonic rs17070666 AK9 AU nonsynonymous SNV NM_001145128 exon31 c.G3896A p.R1299Q 0.0599042 0.126 0.017302 0.0493 0.1222 1.0 P -0.688 T 1.0 D 0.998 D ID=COSM150153;OCCURENCE=1(stomach) Pathogenic 6_109837859_T->C 6 109837859 109837859 T C snp 1035.77 0/1 99 55 22 33 0.6 intronic rs10872035 AK9 AU NM_001145128 exon12 c.23274+14T>C 0.638179 0.7212 0.6660 0.7283 Uncertain 6_109837879_A->G 6 109837879 109837879 A G snp 1266.77 1/1 93 37 0 37 1.0 intronic rs7773915 AK9 AU NM_001145128 exon12 c.23274+34A>G 0.809904 0.9901 0.670026 0.7739 0.9887 Uncertain 6_109850103_T->A 6 109850103 109850103 T A snp 562.77 0/1 99 41 20 21 0.51 intronic rs117403840 AK9 AU NM_001145128 exon13 c.35642-110T>A 0.0583067 0.127 0.017703 0.0774 0.2408 ID=COSM150154;OCCURENCE=1(stomach) Uncertain 6_109850200_AC->- 6 109850200 109850201 AC - indel 1308.73 1/1 99 35 0 35 1.0 intronic rs560850105 AK9 AU NM_001145128 exon13 c.35642-13_35642-12delAC 0.510383 0.6389 0.4744 0.5292 ID=COSM1732834;OCCURENCE=1(pancreas) Uncertain 6_109863238_A->C 6 109863238 109863238 A C snp 1771.77 1/1 99 65 0 65 1.0 intronic rs9386812 AK9 AU NM_001145128 exon15 c.48678-11A>C 0.652356 0.8472 0.546916 0.7136 0.8560 Uncertain 6_109871163_G->A 6 109871163 109871163 G A snp 761.77 1/1 57 20 0 20 1.0 intronic rs9400294 AK9 AU NM_001145128 exon17 c.56721-129G>A 0.652157 0.8472 Uncertain 6_109886159_C->T 6 109886159 109886159 C T snp 214.84 1/1 18 7 0 7 1.0 intronic rs10872047 AK9 AU NM_001145128 exon20 c.71477+111C>T 0.659744 0.8472 Uncertain 6_109935484_G->A 6 109935484 109935484 G A snp 2050.77 0/1 99 198 107 91 0.46 exonic rs75714660 AK9 AU nonsynonymous SNV NM_001145128 exon15 c.C1511T p.S504F 0.0585064 0.127 0.017083 0.0475 0.1218 0.0 P -1.109 T 0.008 T 0.011 T ID=COSM150155,COSM150156;OCCURENCE=1(stomach) Pathogenic 6_109935606_A->G 6 109935606 109935606 A G snp 688.77 0/1 99 75 47 28 0.37 exonic rs75733561 AK9 AU nonsynonymous SNV NM_001145128 exon14 c.T1477C p.S493P 0.0541134 0.127 0.012484 0.0460 0.1206 1 N -1.036 T 0.0 T 0.0 T ID=COSM150157,COSM150158;OCCURENCE=1(stomach) Pathogenic 6_109940498_A->G 6 109940498 109940498 A G snp 761.77 0/1 99 66 37 29 0.44 intronic rs10499053 AK9 AU NM_001145128 exon29 c.125868+59A>G 0.294529 0.3651 Uncertain 6_109954065_-->ATAGATAG 6 109954065 109954065 - ATAGATAG indel 1054.73 ./1 99 16 0 16 1.0 UTR3 rs146518695 AK9 AU 0.1424 0.1727 Uncertain 6_109954065_-->ATAG 6 109954065 109954065 - ATAG indel 1054.73 ./1 99 16 0 16 1.0 UTR3 rs146518695 AK9 AU 0.3830 0.3533 Uncertain 6_109954252_C->T 6 109954252 109954252 C T snp 3787.77 1/1 99 142 0 142 1.0 exonic rs1406957 AK9 AU synonymous SNV NM_001145128 exon12 c.G1128A p.L376L 0.652157 0.8472 0.545364 0.6700 0.8393 Uncertain 6_109962904_A->C 6 109962904 109962904 A C snp 536.77 1/1 42 14 0 14 1.0 intronic rs7744981 AK9 AU NM_145025 exon3 c.8706+85A>C 0.652157 0.8472 Uncertain 6_109962935_T->C 6 109962935 109962935 T C snp 211.84 1/1 18 6 0 6 1.0 intronic rs7765265 AK9 AU NM_145025 exon3 c.8706+116T>C 0.652157 0.8472 Uncertain 6_109982160_C->T 6 109982160 109982160 C T snp 1952.77 1/1 99 68 0 68 1.0 intronic rs2016207 AK9 AU NM_145025 exon6 c.26503+1544C>T 0.652157 0.8472 0.551814 0.6786 0.8388 Uncertain 6_109993291_G->A 6 109993291 109993291 G A snp 844.77 0/1 99 91 55 36 0.4 intronic rs12197838 AK9 AU NM_145025 exon9 c.39204-26G>A 0.349441 0.377 0.330154 0.3931 0.4066 Uncertain 6_109997115_C->A 6 109997115 109997115 C A snp 43.77 0/1 72 4 2 2 0.5 intronic rs182088615 AK9 AU NM_145025 exon11 c.42846+156C>A 0.0571086 0.127 Uncertain 6_110022699_A->G 6 110022699 110022699 A G snp 83.77 0/1 67 5 2 3 0.6 intronic rs3799844 FIG4 AR,AD NM_014845 exon1 c.66+9995A>G 0.0529153 0.127 Uncertain 6_110048489_-->T 6 110048489 110048489 - T indel 534.73 1/1 37 35 2 33 0.94 intronic rs11459279 FIG4 AR,AD NM_014845 exon4 c.35830+21insT 0.536342 0.5188 0.5083 0.4974 Uncertain 6_110053721_T->G 6 110053721 110053721 T G snp 43.77 0/1 66 4 2 2 0.5 intronic rs11153215 FIG4 AR,AD NM_014845 exon5 c.41201-118T>G 0.338658 0.3482 Uncertain 6_110053824_-->T 6 110053824 110053824 - T indel 664.73 1/1 90 37 0 37 1.0 intronic rs11377100 FIG4 AR,AD NM_014845 exon5 c.41201-15insT 0.604433 0.5625 0.686238 0.6129 0.6005 Uncertain 6_110059510_C->A 6 110059510 110059510 C A snp 615.77 0/1 99 62 34 28 0.45 intronic rs2273752 FIG4 AR,AD NM_014845 exon7 c.46889-17C>A 0.338059 0.3482 0.319056 0.3844 0.3777 Uncertain 6_110062551_G->T 6 110062551 110062551 G T snp 1202.77 0/1 99 93 47 46 0.49 intronic rs17070915 FIG4 AR,AD NM_014845 exon8 c.50008-95G>T 0.0521166 0.1091 Uncertain 6_110062873_T->G 6 110062873 110062873 T G snp 473.77 0/1 99 25 10 15 0.6 intronic rs1322124 FIG4 AR,AD NM_014845 exon8 c.50109+126T>G 0.34345 0.3591 Uncertain 6_110064928_A->T 6 110064928 110064928 A T snp 2164.77 0/1 99 229 132 97 0.42 exonic rs2295837 FIG4 AR,AD nonsynonymous SNV NM_014845 exon10 c.A1090T p.M364L 0.10004 0.1984 0.030909 0.0743 0.2152 1 T 1.000 P -1.005 T 0.029 T 0.015 T CLINSIG=non-pathogenic;CLNDBN=not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000125108.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Pathogenic 6_110081618_G->A 6 110081618 110081618 G A snp 2514.77 0/1 99 190 93 97 0.51 intronic rs9481003 FIG4 AR,AD NM_014845 exon11 c.68948+32G>A 0.224641 0.3026 0.160772 0.1145 0.2939 Uncertain 6_110106277_C->A 6 110106277 110106277 C A snp 948.77 1/1 66 41 0 41 1.0 intronic rs9320315 FIG4 AR,AD NM_014845 exon17 c.93593+46C>A 0.341853 0.3938 0.208186 0.2225 0.3951 Uncertain 6_110106741_A->T 6 110106741 110106741 A T snp 1467.77 1/1 99 49 0 49 1.0 intronic rs6914322 FIG4 AR,AD NM_014845 exon17 c.93593+510A>T 0.445487 0.3968 Uncertain 6_110107517_T->C 6 110107517 110107517 T C snp 7232.77 1/1 99 241 0 241 1.0 exonic rs9885672 FIG4 AR,AD nonsynonymous SNV NM_014845 exon18 c.T1961C p.V654A 0.447883 0.4077 0.326746 0.2753 0.4072 0.86 T 0.014 P -0.987 T 0.0 T 0.0 T CLINSIG=non-pathogenic;CLNDBN=not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000125110.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Pathogenic 6_110112861_C->T 6 110112861 110112861 C T snp 159.77 0/1 53 7 2 5 0.71 intronic FIG4 AR,AD NM_014845 exon20 c.100136+87C>T Uncertain 6_110113764_T->- 6 110113764 110113764 T - indel 596.9 1/1 14 81 16 65 0.8 intronic rs200535694 FIG4 AR,AD NM_014845 exon21 c.101146-20delT 0.00139776 0.2891 0.2975 Uncertain 6_110113766_T->C 6 110113766 110113766 T C snp 1300.77 0/1 99 85 30 55 0.65 intronic rs72944974 FIG4 AR,AD NM_014845 exon21 c.101146-18T>C 0.0860623 0.1319 0.049554 0.0886 0.1593 Uncertain 6_110146303_G->A 6 110146303 110146303 G A snp 2947.77 0/1 99 215 90 125 0.58 exonic rs1127771 FIG4 AR,AD synonymous SNV NM_014845 exon23 c.G2559A p.S853S 0.395767 0.5595 0.321467 0.4289 0.5766 Uncertain 6_110423498_T->C 6 110423498 110423498 T C snp 70.77 0/1 99 12 8 4 0.33 intronic rs79154159 WASF1 AU NM_003931 exon2 c.1695+79T>C 0.0892572 0.129 Uncertain 6_110428453_T->G 6 110428453 110428453 T G snp 345.77 0/1 99 21 8 13 0.62 intronic rs78868707 WASF1 AU NM_003931 exon5 c.6673+56T>G 0.0892572 0.129 Uncertain 6_110514293_A->T 6 110514293 110514293 A T snp 101.77 0/1 99 15 10 5 0.33 intronic rs77753735 CDC40 AU NM_015891 exon2 c.12737-91A>T 0.0874601 0.121 Uncertain 6_110530254_-->T 6 110530254 110530254 - T indel 94.73 0/1 99 13 6 7 0.54 intronic rs200116966 CDC40 AU NM_015891 exon5 c.28639-32insT 0.0547125 0.124 0.1066 0.2003 Uncertain 6_110620021_C->T 6 110620021 110620021 C T snp 383.77 0/1 99 24 10 14 0.58 intronic rs2878176 METTL24 AU NM_001123364 exon2 c.52976-103C>T 0.121605 0.127 Uncertain 6_110643956_T->C 6 110643956 110643956 T C snp 1884.77 1/1 99 70 0 70 1.0 intronic rs6908306 METTL24 AU NM_001123364 exon4 c.76828-20T>C 0.965855 1 0.934369 0.9352 0.9998 Uncertain 6_110644112_-->G 6 110644112 110644112 - G indel 2193.73 1/1 99 54 0 54 1.0 intronic rs112341783 METTL24 AU NM_001123364 exon4 c.76927+37insG 1 1 1.0000 1 Uncertain 6_110679062_T->G 6 110679062 110679062 T G snp 498.77 1/1 36 20 0 20 1.0 intronic rs4945854 METTL24 AU NM_001123364 exon5 c.112009-95T>G 0.874201 0.752 Uncertain 6_110679413_A->G 6 110679413 110679413 A G snp 450.77 1/1 33 19 0 19 1.0 exonic rs62435951 METTL24 AU synonymous SNV NM_001123364 exon1 c.T63C p.A21A 0.524561 0.4712 0.398760 0.5443 0.4518 Uncertain 6_110714584_A->T 6 110714584 110714584 A T snp 549.77 0/1 99 39 18 21 0.54 intronic rs2235989 DDO AU NM_003649 exon1 c.568+39A>T 0.468251 0.4266 0.467082 0.4518 0.4233 Uncertain 6_110736542_C->T 6 110736542 110736542 C T snp 257.77 0/1 99 22 12 10 0.45 intronic rs9487397 DDO AU NM_003649 exon5 c.22692-127C>T 0.0938498 0.1468 Uncertain 6_110736610_T->C 6 110736610 110736610 T C snp 1534.77 1/1 99 54 0 54 1.0 intronic rs9384742 DDO AU NM_003649 exon5 c.22692-59T>C 0.716254 0.8562 0.627245 Uncertain 6_110745977_A->T 6 110745977 110745977 A T snp 1360.77 1/1 99 39 0 39 1.0 UTR3 rs3778650 SLC22A16 AU 0.291134 0.4117 Uncertain 6_110746526_T->C 6 110746526 110746526 T C snp 3521.77 1/1 99 131 1 130 0.99 intronic rs7756222 SLC22A16 AU NM_033125 exon1 c.213+238T>C 0.692692 0.8304 0.5930 0.8050 Uncertain 6_110746545_T->G 6 110746545 110746545 T G snp 3398.77 1/1 99 127 0 127 1.0 intronic rs9487402 SLC22A16 AU NM_033125 exon1 c.213+257T>G 0.372404 0.503 0.3102 0.4942 Uncertain 6_110752289_G->A 6 110752289 110752289 G A snp 2375.77 1/1 99 79 0 79 1.0 intronic rs1033572 SLC22A16 AU NM_033125 exon2 c.6298-84G>A 0.594449 0.6667 Uncertain 6_110752626_C->A 6 110752626 110752626 C A snp 54.74 1/1 6 2 0 2 1.0 intronic rs1022604 SLC22A16 AU NM_033125 exon2 c.6398+153C>A 0.249002 0.3641 Uncertain 6_110778323_G->A 6 110778323 110778323 G A snp 334.78 1/1 27 9 0 9 1.0 intronic rs717567 SLC22A16 AU NM_033125 exon7 c.32145+103G>A 0.998802 1 Uncertain 6_110797214_C->G 6 110797214 110797214 C G snp 2875.77 1/1 99 97 0 97 1.0 intronic rs2428188 SLC22A16 AU NM_033125 exon8 c.51649-510C>G 0.721645 0.6944 0.8507 0.7368 Uncertain 6_110797563_A->C 6 110797563 110797563 A C snp 635.77 1/1 48 18 0 18 1.0 intronic rs2494551 SLC22A16 AU NM_033125 exon8 c.51649-161A>C 0.745407 0.6984 Uncertain 6_110797605_G->A 6 110797605 110797605 G A snp 1609.77 1/1 99 51 0 51 1.0 intronic rs2494552 SLC22A16 AU NM_033125 exon8 c.51649-119G>A 0.722843 0.6984 Uncertain 6_110797612_A->G 6 110797612 110797612 A G snp 1590.77 1/1 99 52 0 52 1.0 intronic rs6920997 SLC22A16 AU NM_033125 exon8 c.51649-112A>G 0.722843 0.6984 Uncertain 6_110797704_CGCGGG->- 6 110797704 110797709 CGCGGG - indel 10292.7 1/1 99 127 0 127 1.0 intronic rs150666553 SLC22A16 AU NM_033125 exon8 c.51649-20_51649-15delCGCGGG 0.927403 0.8422 0.7967 Uncertain 6_110797713_-->CACCCCT 6 110797713 110797713 - CACCCCT indel 10948.7 1/1 99 110 0 110 1.0 intronic rs367754468 SLC22A16 AU NM_033125 exon8 c.51649-11insCACCCCT 0.8397 0.7783 Uncertain 6_110797821_A->G 6 110797821 110797821 A G snp 1662.77 1/1 99 58 0 58 1.0 UTR5 rs11153236 SLC22A16 AU 0.959065 0.9692 0.974413 0.9546 0.9635 Uncertain 6_110797905_G->C 6 110797905 110797905 G C snp 373.77 1/1 30 11 0 11 1.0 upstream rs6922017 SLC22A16 AU 0.729633 0.6984 Uncertain 6_110942653_G->C 6 110942653 110942653 G C snp 227.84 1/1 18 8 0 8 1.0 intronic rs2272211 CDK19 AU NM_001300960 exon2 c.6836+80G>C 0.301518 0.3879 Uncertain 6_110991916_T->C 6 110991916 110991916 T C snp 1805.77 1/1 99 67 0 67 1.0 intronic rs2691185 CDK19 AU NM_001300960 exon10 c.56007+172T>C 0.467851 0.6786 Uncertain 6_111214649_C->T 6 111214649 111214649 C T snp 2256.77 0/1 99 213 124 89 0.42 intronic AMD1 AU NM_001287216 exon5 c.18370-29C>T Uncertain 6_111280038_C->T 6 111280038 111280038 C T snp 625.77 0/1 99 90 58 32 0.36 intronic rs9374224 GTF3C6 AU NM_138408 exon1 c.57+9C>T 0.0982428 0.375 0.017705 0.0481 0.3812 Uncertain 6_111280134_A->G 6 111280134 111280134 A G snp 430.77 0/1 99 47 27 20 0.43 intronic rs61367166 GTF3C6 AU NM_138408 exon1 c.57+105A>G 0.124601 0.375 Uncertain 6_111280242_T->G 6 111280242 111280242 T G snp 833.77 0/1 99 89 53 36 0.4 intronic rs9398255 GTF3C6 AU NM_138408 exon2 c.402-132T>G 0.123403 0.375 Uncertain 6_111280332_G->C 6 111280332 111280332 G C snp 1081.77 0/1 99 133 85 48 0.36 intronic rs9374225 GTF3C6 AU NM_138408 exon2 c.402-42G>C 0.232228 0.3998 0.165231 0.1574 0.4143 Uncertain 6_111280471_T->- 6 111280471 111280471 T - indel 1020.73 0/1 99 74 40 34 0.46 intronic rs59470162 GTF3C6 AU NM_138408 exon2 c.483+16delT 0.124601 0.375 0.051118 0.0675 0.3987 Uncertain 6_111281581_T->G 6 111281581 111281581 T G snp 898.77 1/1 66 24 0 24 1.0 intronic rs6910747 GTF3C6 AU NM_138408 exon3 c.1644-35T>G 0.352037 0.631 0.2786 0.6458 Uncertain 6_111281585_T->- 6 111281585 111281585 T - indel 731.73 1/1 75 25 0 25 1.0 intronic rs11354415 GTF3C6 AU NM_138408 exon3 c.1644-31delT 0.351238 0.631 0.233706 0.3426 0.6692 Uncertain 6_111281880_-->TAAATAT 6 111281880 111281880 - TAAATAT indel 7494.73 1/1 99 86 0 86 1.0 intronic rs375621614 GTF3C6 AU NM_138408 exon4 c.1847+61insTAAATAT 0.351837 0.631 0.217836 Uncertain 6_111283592_C->T 6 111283592 111283592 C T snp 1000.77 1/1 75 32 0 32 1.0 splicing rs9374227 GTF3C6 AU NM_138408 exon5 c.3622-2C>T 0.352037 0.631 0.227280 0.2690 0.6373 Pathogenic 6_111283718_A->C 6 111283718 111283718 A C snp 5311.77 1/1 99 197 1 196 0.99 intronic rs9374228 GTF3C6 AU NM_138408 exon5 c.3736+10A>C 0.352037 0.631 0.226742 0.2693 0.6367 Uncertain 6_111318193_T->C 6 111318193 111318193 T C snp 56.74 1/1 6 2 0 2 1.0 intronic rs3763193 RPF2 AU NM_032194 exon5 c.15076-192T>C 0.464657 0.6558 Uncertain 6_111320794_G->A 6 111320794 111320794 G A snp 551.77 0/1 99 48 25 23 0.48 intronic rs3763195 RPF2 AU NM_032194 exon6 c.17604-119G>A 0.229832 0.256 Uncertain 6_111321037_A->G 6 111321037 111321037 A G snp 1009.77 1/1 72 37 1 36 0.97 intronic rs3763196 RPF2 AU NM_032194 exon6 c.17681+47A>G 0.464257 0.6558 0.345379 0.3393 0.6441 Uncertain 6_111527696_C->T 6 111527696 111527696 C T snp 235.77 0/1 57 9 2 7 0.78 intronic rs402014 SLC16A10 AU NM_018593 exon4 c.118839-98C>T 0.600639 0.7421 Uncertain 6_111527988_G->A 6 111527988 111527988 G A snp 2214.77 0/1 99 153 57 96 0.63 intronic rs402940 SLC16A10 AU NM_018593 exon4 c.118983+50G>A 0.722444 0.745 0.779333 0.7977 0.7386 Uncertain 6_111528108_T->C 6 111528108 111528108 T C snp 46.77 0/1 33 3 1 2 0.67 intronic rs433569 SLC16A10 AU NM_018593 exon4 c.118983+170T>C 0.776558 0.746 Uncertain 6_111540372_G->A 6 111540372 111540372 G A snp 375.77 0/1 99 21 9 12 0.57 intronic rs405948 SLC16A10 AU NM_018593 exon5 c.131290+127G>A 0.507588 0.6875 Uncertain 6_111543067_G->A 6 111543067 111543067 G A snp 237.77 0/1 99 16 6 10 0.63 intronic rs193282 SLC16A10 AU NM_018593 exon6 c.134250-138G>A 0.525359 0.7103 Uncertain 6_111587055_A->T 6 111587055 111587055 A T snp 261.77 0/1 99 13 5 8 0.62 intronic rs240986 KIAA1919 AU NM_153369 exon4 c.6175-23A>T 0.201877 0.3323 0.137490 0.1662 0.3316 Uncertain 6_111587266_T->C 6 111587266 111587266 T C snp 2326.77 0/1 99 218 117 101 0.46 exonic rs11153279 KIAA1919 AU synonymous SNV NM_153369 exon4 c.T501C p.D167D 0.42512 0.4335 0.523912 0.5849 0.4266 Uncertain 6_111628708_A->G 6 111628708 111628708 A G snp 2783.77 0/1 99 211 92 119 0.56 exonic rs3218602 REV3L AU synonymous SNV NM_002912 exon32 c.T9108C p.Y3036Y 0.00678914 0.0317 0.0024 0.0322 Uncertain 6_111628879_C->T 6 111628879 111628879 C T snp 1195.77 0/1 99 112 57 55 0.49 intronic rs240998 REV3L AU NM_002912 exon2 c.7555+106C>T 0.258586 0.3552 Uncertain 6_111654681_T->- 6 111654681 111654681 T - indel 77.73 0/1 99 22 6 16 0.73 intronic rs397798547 REV3L AU NM_002912 exon10 c.33352+111delT 0.504593 0.4683 Uncertain 6_111665071_T->C 6 111665071 111665071 T C snp 251.77 0/1 99 26 15 11 0.42 intronic rs1623806 REV3L AU NM_002912 exon12 c.43909-56T>C 0.354233 0.4187 Uncertain 6_111695073_C->T 6 111695073 111695073 C T snp 2688.77 0/1 99 250 148 102 0.41 exonic rs455645 REV3L AU synonymous SNV NM_002912 exon14 c.G4485A p.S1495S 0.586462 0.4534 0.686222 0.7159 0.4526 Uncertain 6_111695268_C->T 6 111695268 111695268 C T snp 3422.77 0/1 99 250 125 125 0.5 exonic rs455732 REV3L AU synonymous SNV NM_002912 exon14 c.G4290A p.V1430V 0.354034 0.4187 0.394571 0.4703 0.4256 Uncertain 6_111695887_G->A 6 111695887 111695887 G A snp 1266.77 0/1 99 106 56 50 0.47 exonic rs462779 REV3L AU nonsynonymous SNV NM_002912 exon14 c.C3671T p.T1224I 0.586462 0.4534 0.686635 0.7165 0.4524 1 T 0.0 P -0.991 T 0.0 T 0.0 T Pathogenic 6_111696257_G->A 6 111696257 111696257 G A snp 2039.77 0/1 99 205 118 87 0.42 exonic rs461646 REV3L AU synonymous SNV NM_002912 exon14 c.C3301T p.L1101L 0.586661 0.4534 0.685914 0.7161 0.4528 Uncertain 6_111696852_T->C 6 111696852 111696852 T C snp 837.77 0/1 99 75 43 32 0.43 exonic rs458486 REV3L AU synonymous SNV NM_002912 exon14 c.A2706G p.G902G 0.354233 0.4187 0.394494 0.4710 0.4263 Uncertain 6_111711232_-->G 6 111711232 111711232 - G indel 232.73 0/1 51 9 2 7 0.78 intronic rs11376056 REV3L AU NM_002912 exon27 c.90070-56insG 0.586262 0.4554 Uncertain 6_111884058_A->G 6 111884058 111884058 A G snp 269.77 0/1 99 17 8 9 0.53 ncRNA_intronic rs2280985 TRAF3IP2-AS1 AU 0.362021 0.4226 Uncertain 6_111901453_G->T 6 111901453 111901453 G T snp 2652.77 1/1 99 93 0 93 1.0 exonic rs1043730 TRAF3IP2 AR,AU nonsynonymous SNV NM_147686 exon3 c.C969A p.H323Q 0.931709 0.999 0.839536 0.8536 0.9994 1 T 1.000 P -0.946 T 0.0 T 0.0 T Pathogenic 6_111918865_G->A 6 111918865 111918865 G A snp 593.77 0/1 99 44 24 20 0.45 ncRNA_intronic rs174393 TRAF3IP2-AS1 AU 0.595847 0.5228 Uncertain 6_111918869_A->G 6 111918869 111918869 A G snp 666.77 0/1 99 49 28 21 0.43 ncRNA_intronic rs11153302 TRAF3IP2-AS1 AU 0.430711 0.4901 Uncertain 6_111919108_T->C 6 111919108 111919108 T C snp 808.77 0/1 99 56 23 33 0.59 ncRNA_exonic rs6941014 TRAF3IP2-AS1 AU 0.448882 0.5159 0.5200 0.5833 Uncertain 6_111995666_A->G 6 111995666 111995666 A G snp 2027.77 1/1 99 77 1 76 0.99 intronic rs3730353 FYN AU NM_153048 exon2 c.12760-35A>G 0.209065 0.2788 0.199600 0.1464 0.2909 Uncertain 6_112024262_A->C 6 112024262 112024262 A C snp 848.77 0/1 99 69 38 31 0.45 intronic rs3752545 FYN AU NM_153048 exon6 c.41296+25A>C 0.173922 0.254 0.125557 0.0793 0.2433 Uncertain 6_112041359_T->C 6 112041359 112041359 T C snp 1007.77 0/1 99 92 51 41 0.45 intronic rs706895 FYN AU NM_153048 exon10 c.58324+94T>C 0.509585 0.4494 Uncertain 6_112375644_G->A 6 112375644 112375644 G A snp 668.77 0/1 99 66 39 27 0.41 intronic WISP3 AR NM_003880 exon2 c.48+36G>A 0.237021 0.3442 0.257958 0.2352 0.3199 Uncertain 6_112382313_G->T 6 112382313 112382313 G T snp 969.77 0/1 99 93 49 44 0.47 exonic WISP3 AR nonsynonymous SNV NM_003880 exon3 c.G168T p.Q56H 0.298922 0.3313 0.336153 0.2606 0.3077 0.13 T 0.0 P -1.087 T 0.0 T 0.0 T Pathogenic 6_112408610_T->C 6 112408610 112408610 T C snp 1974.77 0/1 99 169 82 87 0.51 splicing rs6568714 TUBE1 AU NM_016262 exon12 c.15998-2T>C 0.304712 0.3472 0.292164 0.2515 0.3263 Pathogenic 6_112420685_T->G 6 112420685 112420685 T G snp 126.77 0/1 99 31 21 10 0.32 intronic FAM229B AU NM_001033564 exon3 c.125+74T>G 0.288538 0.3462 Uncertain 6_112420703_T->C 6 112420703 112420703 T C snp 136.77 0/1 99 23 15 8 0.35 intronic FAM229B AU NM_001033564 exon3 c.125+92T>C 0.288538 0.3462 Uncertain 6_112421721_C->T 6 112421721 112421721 C T snp 117.77 0/1 99 7 3 4 0.57 intronic FAM229B AU NM_001033564 exon4 c.1386-151C>T 0.239816 0.3462 Uncertain 6_112422154_T->C 6 112422154 112422154 T C snp 579.77 0/1 99 30 12 18 0.6 UTR3 FAM229B AU 0.240615 0.3462 Uncertain 6_112430886_T->C 6 112430886 112430886 T C snp 142.77 0/1 99 22 14 8 0.36 intronic LAMA4 AD NM_002290 exon1 c.146+101T>C 0.265974 0.3472 Uncertain 6_112435264_T->G 6 112435264 112435264 T G snp 2465.77 0/1 99 217 111 106 0.49 intronic LAMA4 AD NM_002290 exon2 c.4639-14T>G 0.240016 0.3472 0.257189 0.2393 0.3213 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter|criteria_provided\x2c_single_submitter;CLNACC=RCV000037393.2|RCV000126536.1;CLNDSDB=MedGen|MedGen;CLNDSDBID=CN169374|CN221809 Uncertain 6_112435273_A->C 6 112435273 112435273 A C snp 2573.77 0/1 99 229 118 111 0.48 splicing LAMA4 AD NM_002290 exon2 c.4639-5A>C 0.240016 0.3472 0.258112 0.2392 0.3212 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter|criteria_provided\x2c_single_submitter;CLNACC=RCV000037394.2|RCV000126535.1;CLNDSDB=MedGen|MedGen;CLNDSDBID=CN169374|CN221809 Pathogenic 6_112435444_-->AAT 6 112435444 112435444 - AAT indel 1066.73 0/1 99 62 36 26 0.42 intronic LAMA4 AD NM_002290 exon2 c.4759+46insAAT 0.240815 0.3472 0.257588 0.2382 0.3188 Uncertain 6_112435682_G->A 6 112435682 112435682 G A snp 40.77 0/1 69 8 5 3 0.38 intronic LAMA4 AD NM_002290 exon3 c.5226-183G>A 0.372804 0.4643 Uncertain 6_112435796_G->C 6 112435796 112435796 G C snp 1139.77 0/1 99 82 38 44 0.54 intronic LAMA4 AD NM_002290 exon3 c.5226-69G>C 0.240815 0.3462 Uncertain 6_112435807_G->T 6 112435807 112435807 G T snp 1293.77 0/1 99 94 44 50 0.53 intronic LAMA4 AD NM_002290 exon3 c.5226-58G>T 0.227236 0.3502 Uncertain 6_112435912_A->T 6 112435912 112435912 A T snp 2005.77 0/1 99 137 56 81 0.59 exonic LAMA4 AD synonymous SNV NM_002290 exon37 c.T5139A p.V1713V 0.281749 0.3571 0.304936 0.2671 0.3343 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter|criteria_provided\x2c_single_submitter;CLNACC=RCV000037389.2|RCV000126534.1;CLNDSDB=MedGen|MedGen;CLNDSDBID=CN169374|CN221809 Uncertain 6_112443134_G->A 6 112443134 112443134 G A snp 703.77 0/1 99 60 35 25 0.42 intronic LAMA4 AD NM_002290 exon8 c.12577-82G>A 0.833267 0.88 Uncertain 6_112450351_G->C 6 112450351 112450351 G C snp 390.77 0/1 99 30 11 19 0.63 intronic LAMA4 AD NM_002290 exon9 c.19638+74G>C 0.834465 0.874 Uncertain 6_112450375_TGTGTGTGTGTGTGCA->- 6 112450375 112450390 TGTGTGTGTGTGTGCA - indel 942.73 0/1 99 16 3 13 0.81 intronic LAMA4 AD NM_002290 exon9 c.19638+98_19638+113delTGTGTGTGTGTGTGCA Uncertain 6_112457383_G->C 6 112457383 112457383 G C snp 2241.77 0/1 99 201 101 100 0.5 exonic LAMA4 AD nonsynonymous SNV NM_002290 exon25 c.C3335G p.P1112R 0.210463 0.3601 0.222051 0.2249 0.3447 0.22 T 1.0 P -0.080 T 1.0 D 0.994 D CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=criteria_provided\x2c_multiple_submitters\x2c_no_conflicts|criteria_provided\x2c_single_submitter;CLNACC=RCV000037365.3|RCV000126527.1;CLNDSDB=MedGen|MedGen;CLNDSDBID=CN169374|CN221809 Pathogenic 6_112457390_C->T 6 112457390 112457390 C T snp 2314.77 0/1 99 203 103 100 0.49 exonic LAMA4 AD nonsynonymous SNV NM_002290 exon25 c.G3328A p.G1110S 0.839856 0.873 0.751346 0.7691 0.8558 1 T 1.0 P -1.082 T 0.001 T 0.0 T CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=criteria_provided\x2c_multiple_submitters\x2c_no_conflicts|criteria_provided\x2c_single_submitter;CLNACC=RCV000037364.3|RCV000126526.1;CLNDSDB=MedGen|MedGen;CLNDSDBID=CN169374|CN221809 Pathogenic 6_112457471_G->A 6 112457471 112457471 G A snp 1483.77 0/1 99 153 85 68 0.44 intronic LAMA4 AD NM_002290 exon15 c.26817+15G>A 0.840455 0.873 0.752730 0.7694 0.8558 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter|criteria_provided\x2c_single_submitter;CLNACC=RCV000037363.2|RCV000126525.1;CLNDSDB=MedGen|MedGen;CLNDSDBID=CN169374|CN221809 Uncertain 6_112460541_G->A 6 112460541 112460541 G A snp 399.77 0/1 99 50 27 23 0.46 intronic LAMA4 AD NM_002290 exon16 c.29854+48G>A 0.300519 0.4286 0.310088 0.2586 0.4191 Uncertain 6_112471622_ACAA->- 6 112471622 112471625 ACAA - indel 4522.73 0/1 99 126 53 73 0.58 intronic LAMA4 AD NM_002290 exon23 c.41073-90_41073-87delACAA 0.287141 0.3532 0.2575 0.3733 Uncertain 6_112471688_G->C 6 112471688 112471688 G C snp 2937.77 0/1 99 232 107 125 0.54 intronic LAMA4 AD NM_002290 exon23 c.41073-24G>C 0.3127 0.4196 0.328002 0.2658 0.4178 Uncertain 6_112476210_T->C 6 112476210 112476210 T C snp 1160.77 0/1 99 80 35 45 0.56 intronic LAMA4 AD NM_002290 exon24 c.45510+61T>C 0.3127 0.4206 Uncertain 6_112493872_A->G 6 112493872 112493872 A G snp 1418.77 1/1 99 54 0 54 1.0 exonic LAMA4 AD nonsynonymous SNV NM_002290 exon12 c.T1471C p.Y491H 0.758387 0.8135 0.648777 0.6649 0.8228 0.45 T 0.007 P -0.899 T 0.0 T 0.0 T CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=criteria_provided\x2c_multiple_submitters\x2c_no_conflicts|criteria_provided\x2c_single_submitter;CLNACC=RCV000037336.3|RCV000126551.1;CLNDSDB=MedGen|MedGen;CLNDSDBID=CN169374|CN221809 Pathogenic 6_112506375_G->A 6 112506375 112506375 G A snp 1693.77 0/1 99 131 61 70 0.53 intronic LAMA4 AD NM_002290 exon31 c.75799-63G>A 0.416933 0.5099 Uncertain 6_112506583_G->T 6 112506583 112506583 G T snp 2541.77 1/1 99 84 0 84 1.0 intronic LAMA4 AD NM_002290 exon31 c.75910+34G>T 0.900559 0.9861 0.790417 0.7904 0.9904 Uncertain 6_112508035_C->T 6 112508035 112508035 C T snp 199.77 0/1 99 18 8 10 0.56 intronic LAMA4 AD NM_002290 exon32 c.78012-616C>T 0.399361 0.5119 0.5255 0.4924 Uncertain 6_112508769_T->G 6 112508769 112508769 T G snp 2034.77 1/1 99 75 0 75 1.0 exonic rs9387061 LAMA4 AD synonymous SNV NM_002290 exon8 c.A828C p.A276A 1 1 1.0000 1 1.000 P -0.998 T CLINSIG=non-pathogenic|untested;CLNDBN=not_provided|not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter|no_assertion_provided;CLNACC=RCV000126548.1|RCV000154630.1;CLNDSDB=MedGen|MedGen;CLNDSDBID=CN221809|CN169374 Likely benign 6_112508770_G->T 6 112508770 112508770 G T snp 1946.77 1/1 99 76 0 76 1.0 exonic rs9400522 LAMA4 AD nonsynonymous SNV NM_002290 exon8 c.C827A p.A276E 1 1 1.0000 0.9999 0.08 T 1.0 P -1.035 T 0.009 T 0.004 T CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_provided|not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter|criteria_provided\x2c_single_submitter;CLNACC=RCV000126547.1|RCV000172753.1;CLNDSDB=MedGen|MedGen;CLNDSDBID=CN221809|CN169374 Pathogenic 6_112512905_G->A 6 112512905 112512905 G A snp 1458.77 0/1 99 155 88 67 0.43 exonic LAMA4 AD synonymous SNV NM_002290 exon6 c.C651T p.T217T 0.316893 0.2619 0.257497 0.1982 0.2833 1.000 P -1.067 T CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter|criteria_provided\x2c_single_submitter;CLNACC=RCV000037397.2|RCV000126546.1;CLNDSDB=MedGen|MedGen;CLNDSDBID=CN169374|CN221809 Likely benign 6_112513159_C->T 6 112513159 112513159 C T snp 303.77 0/1 99 18 7 11 0.61 intronic LAMA4 AD NM_002290 exon34 c.82413+107C>T 0.0998403 0.1776 Uncertain 6_112521183_G->A 6 112521183 112521183 G A snp 1084.77 0/1 99 83 44 39 0.47 intronic LAMA4 AD NM_002290 exon35 c.92169-1625G>A 0.590655 0.4494 Uncertain 6_112521480_A->C 6 112521480 112521480 A C snp 199.8 0/1 21 7 1 6 0.86 intronic LAMA4 AD NM_002290 exon35 c.92169-1328A>C Uncertain 6_114178831_-->GCT 6 114178831 114178831 - GCT indel 547.73 0/1 99 27 14 13 0.48 UTR5 rs113531174 MARCKS AU Uncertain 6_114181915_TT->- 6 114181915 114181916 TT - indel 157.73 0/1 84 17 3 14 0.82 UTR3 rs397897544 MARCKS AU Uncertain 6_114265587_T->C 6 114265587 114265587 T C snp 1509.77 0/1 99 134 70 64 0.48 intronic rs13204445 HDAC2 AU NM_001527 exon4 c.3353+13T>C 0.217652 0.2927 0.228808 0.2389 0.3039 Uncertain 6_114277625_T->C 6 114277625 114277625 T C snp 183.77 0/1 99 14 8 6 0.43 intronic rs2475631 HDAC2 AU NM_001527 exon11 c.15561-157T>C 0.293131 0.2758 Uncertain 6_114279783_A->T 6 114279783 114279783 A T snp 793.77 0/1 99 75 41 34 0.45 intronic rs2243356 HDAC2 AU NM_001527 exon12 c.17591-29A>T 0.553914 0.6954 0.526817 0.5614 0.6738 Uncertain 6_114384107_A->G 6 114384107 114384107 A G snp 331.77 0/1 99 21 11 10 0.48 ncRNA_intronic rs79013776 LOC101927768 AU 0.00459265 0.0208 Uncertain 6_116263819_C->A 6 116263819 116263819 C A snp 787.77 0/1 99 72 41 31 0.43 intronic rs41289918 FRK AU NM_002031 exon1 c.212+31C>A 0.0684904 0.1369 0.015993 0.0586 0.1390 Uncertain 6_116263890_A->T 6 116263890 116263890 A T snp 61.77 0/1 90 11 8 3 0.27 intronic rs17077407 FRK AU NM_002031 exon1 c.212+102A>T 0.0688898 0.1379 Uncertain 6_116264065_G->A 6 116264065 116264065 G A snp 104.77 0/1 99 10 6 4 0.4 intronic rs17077409 FRK AU NM_002031 exon2 c.606-117G>A 0.0688898 0.1379 Uncertain 6_116264354_C->A 6 116264354 116264354 C A snp 3816.77 1/1 99 141 1 140 0.99 splicing rs550480 FRK AU NM_002031 exon2 c.772+6C>A 0.755591 0.9812 0.631810 0.7173 0.9911 Pathogenic 6_116264387_T->- 6 116264387 116264387 T - indel 562.73 0/1 99 86 37 49 0.57 intronic rs11330350 FRK AU NM_002031 exon2 c.772+39delT 0.44988 0.7083 0.307478 0.4576 0.6454 Uncertain 6_116277792_G->A 6 116277792 116277792 G A snp 585.77 0/1 99 48 19 29 0.6 intronic rs17077423 FRK AU NM_002031 exon4 c.14197+19G>A 0.0690895 0.1379 0.021836 0.0646 0.1417 Uncertain 6_116325142_C->T 6 116325142 116325142 C T snp 3147.77 1/1 99 106 0 106 1.0 exonic rs3756772 FRK AU nonsynonymous SNV NM_002031 exon2 c.G364A p.G122R 0.458866 0.7857 0.347893 0.4556 0.7978 0.18 T 1.000 P -1.012 T 0.0 T 0.0 T Pathogenic 6_116429623_T->A 6 116429623 116429623 T A snp 1903.77 1/1 99 70 0 70 1.0 intronic rs517352 NT5DC1 AU NM_152729 exon3 c.7505+25T>A 0.659345 0.7589 0.576361 0.6623 0.7924 Uncertain 6_116441229_-->GGG 6 116441229 116441229 - GGG indel 2707.73 1/1 99 44 0 44 1.0 UTR3 rs111661664 COL10A1 AD 0.958666 1 0.903275 0.9073 0.9993 Uncertain 6_116574455_G->A 6 116574455 116574455 G A snp 3059.77 1/1 99 98 0 98 1.0 exonic rs2232472 TSPYL4 AU synonymous SNV NM_021648 exon1 c.C717T p.H239H 0.388379 0.6359 0.276573 0.4545 0.6888 Uncertain 6_116575083_C->A 6 116575083 116575083 C A snp 6543.77 1/1 99 238 0 238 1.0 exonic rs2232470 TSPYL4 AU nonsynonymous SNV NM_021648 exon1 c.G89T p.R30L 0.883187 0.998 0.729021 0.7653 0.9974 0.82 T 0.0 P -0.961 T 0.0 T 0.0 T Pathogenic 6_116575344_T->G 6 116575344 116575344 T G snp 3668.77 1/1 99 126 0 126 1.0 upstream rs910391 TSPYL4 AU 0.883187 0.998 Uncertain 6_116579501_C->T 6 116579501 116579501 C T snp 269.8 1/1 21 9 0 9 1.0 intergenic rs11153601 TSPYL4 AU 0.461262 0.624 Uncertain 6_116599665_T->C 6 116599665 116599665 T C snp 807.77 1/1 60 29 0 29 1.0 UTR3 rs9400897 TSPYL1 AR 0.188099 0.372 0.095264 0.1632 0.3941 Uncertain 6_116600465_-->CAC 6 116600465 116600465 - CAC indel 6991.73 1/1 99 137 0 137 1.0 exonic rs397735194 TSPYL1 AR nonframeshift insertion NM_003309 exon1 c.528_529insGTG p.K177delinsVK 0.872204 0.9772 0.728914 0.7628 0.9975 ID=COSM112143;OCCURENCE=4(large_intestine),1(ovary) Uncertain 6_116600774_C->G 6 116600774 116600774 C G snp 6332.77 1/1 99 221 0 221 1.0 exonic rs3749895 TSPYL1 AR nonsynonymous SNV NM_003309 exon1 c.G220C p.A74P 0.464257 0.6448 0.293673 0.3822 0.6698 1 T 0.0 P -0.915 T 0.0 T 0.0 T Pathogenic 6_116600810_G->A 6 116600810 116600810 G A snp 6032.77 1/1 99 205 0 205 1.0 exonic rs3828743 TSPYL1 AR nonsynonymous SNV NM_003309 exon1 c.C184T p.P62S 0.34984 0.6319 0.190084 0.3238 0.6631 0.32 T 0.0 P -0.998 T 0.02 T 0.004 T Pathogenic 6_116690849_C->T 6 116690849 116690849 C T snp 139.03 1/1 12 4 0 4 1.0 intergenic rs9488914 TSPYL1 AR 0.61901 0.9375 Uncertain 6_116754456_G->T 6 116754456 116754456 G T snp 40.74 1/1 6 2 0 2 1.0 intronic rs574278 DSE AR NM_013352 exon5 c.34092-49G>T 0.583067 0.4514 0.696385 0.6041 0.4473 Uncertain 6_116757557_T->C 6 116757557 116757557 T C snp 4795.77 1/1 99 168 0 168 1.0 exonic rs560644 DSE AR synonymous SNV NM_013352 exon6 c.T1926C p.N642N 0.976038 0.998 0.949792 0.9529 0.9990 Uncertain 6_116782488_T->C 6 116782488 116782488 T C snp 2822.77 1/1 99 109 0 109 1.0 upstream rs2858833 FAM26F AU 0.716054 0.9008 Uncertain 6_116782734_C->T 6 116782734 116782734 C T snp 984.77 0/1 99 97 51 46 0.47 intronic rs79282532 FAM26F AU NM_001276460 exon1 c.9+142C>T 0.0632987 0.2986 Uncertain 6_116782973_G->A 6 116782973 116782973 G A snp 94.28 1/1 9 3 0 3 1.0 intronic rs2858834 FAM26F AU NM_001276460 exon1 c.9+381G>A 0.649161 0.9008 Uncertain 6_116783330_G->A 6 116783330 116783330 G A snp 640.77 0/1 99 56 30 26 0.46 exonic rs1057192 FAM26F AU nonsynonymous SNV NM_001010919 exon2 c.G238A p.G80R 0.239617 0.3651 0.149077 0.3045 0.4458 0 D 1.000 P -0.751 T 1.0 D 0.993 D Pathogenic 6_116783390_A->G 6 116783390 116783390 A G snp 873.77 1/1 63 28 0 28 1.0 exonic rs10784 FAM26F AU nonsynonymous SNV NM_001010919 exon2 c.A298G p.T100A 0.710663 0.8938 0.707989 0.6917 0.9231 0.71 T 0.0 P -0.976 T 0.0 T 0.0 T Pathogenic 6_116783877_A->T 6 116783877 116783877 A T snp 83.77 0/1 69 5 2 3 0.6 intronic rs2269567 FAM26F AU NM_001010919 exon2 c.525+260A>T 0.271565 0.3611 Uncertain 6_116836720_G->A 6 116836720 116836720 G A snp 1172.77 0/1 99 155 102 53 0.34 intronic rs881863 FAM26E AU NM_153711 exon2 c.3903-42G>A 0.376198 0.5516 0.363986 0.4409 0.5421 Uncertain 6_116864570_A->C 6 116864570 116864570 A C snp 1243.77 0/1 99 120 70 50 0.42 intronic rs4142087 FAM26D AU 0.286142 0.5079 0.3123 0.4904 Uncertain 6_116875427_G->A 6 116875427 116875427 G A snp 1918.77 1/1 99 67 0 67 1.0 exonic rs7762318 FAM26D AU synonymous SNV NM_001256887 exon3 c.G42A p.L14L 0.642572 0.8978 0.6263 0.8765 Uncertain 6_116875493_T->C 6 116875493 116875493 T C snp 489.77 0/1 99 32 14 18 0.56 exonic rs9387420 FAM26D AU synonymous SNV NM_001256887 exon3 c.T108C p.L36L 0.22504 0.3482 0.2533 0.3537 Uncertain 6_116878947_C->T 6 116878947 116878947 C T snp 1038.77 1/1 75 36 0 36 1.0 intronic rs6906668 FAM26D AU NM_001256887 exon4 c.3602-40C>T 0.642572 0.8978 0.562827 0.6384 0.9096 Uncertain 6_116892839_C->T 6 116892839 116892839 C T snp 1333.77 0/1 99 114 61 53 0.46 intronic rs2295598 RWDD1 AU NM_015952 exon1 c.73+21C>T 0.223442 0.3522 0.171303 0.2272 0.3832 Uncertain 6_116901640_G->A 6 116901640 116901640 G A snp 54.74 1/1 6 2 0 2 1.0 intronic rs1321534 RWDD1 AU NM_015952 exon2 c.8778+117G>A 0.83746 0.877 Uncertain 6_116912034_T->- 6 116912034 116912034 T - indel 204.73 0/1 99 38 17 21 0.55 intronic rs77165075 RWDD1 AU NM_015952 exon6 c.19305-16delT 0.4448 0.4616 Uncertain 6_116947907_TAATT->- 6 116947907 116947911 TAATT - indel 730.73 0/1 99 13 3 10 0.77 intronic rs544477914 RSPH4A AU NM_001010892 exon3 c.11005-884_11005-880delTAATT 0.204872 0.2857 Uncertain 6_116950734_G->A 6 116950734 116950734 G A snp 1063.77 0/1 99 114 63 51 0.45 exonic rs6927567 RSPH4A AU nonsynonymous SNV NM_001010892 exon4 c.G1667A p.R556H 0.204872 0.2857 0.169768 0.2135 0.3064 0.05 T 1.0 P -0.839 T 0.798 T 0.229 P CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_multiple_submitters\x2c_no_conflicts;CLNACC=RCV000151746.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 6_116950833_T->C 6 116950833 116950833 T C snp 888.77 0/1 99 84 39 45 0.54 exonic rs784133 RSPH4A AU nonsynonymous SNV NM_001010892 exon4 c.T1766C p.L589P 0.710064 0.4921 0.698831 0.6470 0.5096 1 T 1.0 P -0.947 T 0.0 T 0.0 T CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_multiple_submitters\x2c_no_conflicts;CLNACC=RCV000151747.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 6_116968513_T->C 6 116968513 116968513 T C snp 153.77 0/1 99 10 4 6 0.6 intronic rs6568959 ZUFSP AU NM_145062 exon3 c.11627-108T>C 0.405351 0.3056 Uncertain 6_116973182_T->C 6 116973182 116973182 T C snp 2025.77 0/1 99 175 88 87 0.5 exonic rs4946188 ZUFSP AU nonsynonymous SNV NM_145062 exon6 c.A1135G p.N379D 0.405351 0.3056 0.345379 0.3535 0.3261 0.75 T 0.005 P -0.989 T 0.0 T 0.002 T Pathogenic 6_116979930_A->G 6 116979930 116979930 A G snp 349.77 0/1 99 34 20 14 0.41 intronic rs6910565 ZUFSP AU NM_145062 exon7 c.22971-35A>G 0.404952 0.3056 0.344952 0.3662 0.3452 Uncertain 6_116981828_C->- 6 116981828 116981828 C - indel 368.73 0/1 99 16 6 10 0.63 intronic rs3839370 ZUFSP AU NM_145062 exon8 c.24904-70delC 0.404952 0.3056 Uncertain 6_117019846_G->T 6 117019846 117019846 G T snp 251.77 0/1 99 45 30 15 0.33 intronic rs7357061 KPNA5 AU NM_002269 exon5 c.17369-20G>T 0.33147 0.2996 0.264048 0.2784 0.3341 Uncertain 6_117045674_A->G 6 117045674 117045674 A G snp 139.03 1/1 12 4 0 4 1.0 intronic rs1150108 KPNA5 AU NM_002269 exon10 c.43041+136A>G 1 1 Uncertain 6_117086265_C->A 6 117086265 117086265 C A snp 2551.77 0/1 99 240 128 112 0.47 intronic rs641338 FAM162B AU NM_001085480 exon3 c.12550-44C>A 0.565296 0.5169 0.551424 0.5084 0.5313 Uncertain 6_117113653_T->C 6 117113653 117113653 T C snp 767.77 0/1 99 84 48 36 0.43 exonic rs615199 GPRC6A AU synonymous SNV NM_148963 exon6 c.A2433G p.P811P 0.30631 0.5228 0.275411 0.3163 0.5435 Uncertain 6_117114025_G->A 6 117114025 117114025 G A snp 3129.77 0/1 99 250 122 128 0.51 exonic rs6901250 GPRC6A AU synonymous SNV NM_148963 exon6 c.C2061T p.A687A 0.320887 0.5228 0.288559 0.3196 0.5424 Uncertain 6_117114223_T->A 6 117114223 117114223 T A snp 2461.77 0/1 99 247 148 99 0.4 exonic rs6924002 GPRC6A AU synonymous SNV NM_148963 exon6 c.A1863T p.T621T 0.320887 0.5228 0.288636 0.3196 0.5427 Uncertain 6_117114280_T->G 6 117114280 117114280 T G snp 2400.77 0/1 99 181 84 97 0.54 exonic rs148502972 GPRC6A AU synonymous SNV NM_148963 exon6 c.A1806C p.L602L 0.000399361 0.002 0.0002 0.0027 Uncertain 6_117114403_G->A 6 117114403 117114403 G A snp 676.77 0/1 99 43 17 26 0.6 exonic rs6901971 GPRC6A AU synonymous SNV NM_148963 exon6 c.C1683T p.H561H 0.6873 0.5536 0.754884 0.7227 0.6030 Uncertain 6_117117045_A->C 6 117117045 117117045 A C snp 654.77 0/1 99 32 9 23 0.72 intronic rs189916740 GPRC6A AU NM_001286355 exon2 c.3694+47A>C 0.000399361 0.002 0.0002 0.0031 Uncertain 6_117121894_G->A 6 117121894 117121894 G A snp 3990.77 1/1 99 149 1 148 0.99 exonic rs6917467 GPRC6A AU synonymous SNV NM_148963 exon4 c.C1401T p.H467H 0.980831 1 0.979317 0.9944 1 Uncertain 6_117130704_G->A 6 117130704 117130704 G A snp 2185.77 0/1 99 209 111 98 0.47 exonic rs2274911 GPRC6A AU nonsynonymous SNV NM_148963 exon2 c.C271T p.P91S 0.686302 0.5536 0.753729 0.7156 0.5923 0.16 T 0.000 P -0.903 T 0.002 T 0.015 T ID=CM135497;DIS=Prostate cancer, reduced risk, association with;TAG=DP;PUB=23555315 DP Pathogenic 6_117198347_G->C 6 117198347 117198347 G C snp 39.77 0/1 68 4 2 2 0.5 upstream rs419400 RFX6 AR 0.670327 0.4821 Uncertain 6_117215114_T->C 6 117215114 117215114 T C snp 2793.77 0/1 99 249 129 120 0.48 intronic rs339340 RFX6 AR NM_173560 exon5 c.16711-35T>C 0.326278 0.3958 0.280025 0.3050 0.3469 Uncertain 6_117215380_T->C 6 117215380 117215380 T C snp 31.77 0/1 60 8 6 2 0.25 intronic rs1406980 RFX6 AR NM_173560 exon5 c.16789+153T>C 0.360823 0.4861 Uncertain 6_117237524_G->A 6 117237524 117237524 G A snp 1598.77 0/1 99 133 67 66 0.5 intronic rs1321372 RFX6 AR NM_173560 exon9 c.39039+47G>A 0.417931 0.4236 0.351715 0.3443 0.3724 Uncertain 6_117237584_T->G 6 117237584 117237584 T G snp 1011.77 1/1 75 31 0 31 1.0 intronic rs2184343 RFX6 AR NM_173560 exon9 c.39039+107T>G 0.863618 0.9117 Uncertain 6_117239141_T->C 6 117239141 117239141 T C snp 588.77 0/1 99 44 17 27 0.61 intronic rs6936629 RFX6 AR NM_173560 exon10 c.40761-58T>C 0.41873 0.4236 0.347778 Uncertain 6_117240593_G->A 6 117240593 117240593 G A snp 258.77 0/1 99 14 6 8 0.57 intronic rs1321366 RFX6 AR NM_173560 exon11 c.42021+134G>A 0.41853 0.4236 Uncertain 6_117243260_T->C 6 117243260 117243260 T C snp 1166.77 1/1 84 44 0 44 1.0 exonic rs7764347 RFX6 AR synonymous SNV NM_173560 exon13 c.T1383C p.T461T 0.339257 0.4226 0.212748 0.2527 0.3749 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000118179.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 6_117244374_T->C 6 117244374 117244374 T C snp 2570.77 1/1 99 98 2 96 0.98 exonic rs7770158 RFX6 AR synonymous SNV NM_173560 exon14 c.T1542C p.N514N 0.339856 0.4236 0.212210 0.2552 0.3761 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000118180.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 6_117246719_C->T 6 117246719 117246719 C T snp 4426.77 1/1 99 169 0 169 1.0 exonic rs4946206 RFX6 AR synonymous SNV NM_173560 exon16 c.C1782T p.H594H 0.340855 0.4236 0.213901 0.2558 0.3763 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000118181.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 6_117248218_T->C 6 117248218 117248218 T C snp 6975.77 1/1 99 250 0 250 1.0 exonic rs611349 RFX6 AR synonymous SNV NM_173560 exon17 c.T1914C p.G638G 0.340455 0.4226 0.213824 0.2556 0.3767 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000118182.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 6_117249847_A->G 6 117249847 117249847 A G snp 3581.77 1/1 99 108 1 107 0.99 intronic rs597688 RFX6 AR NM_173560 exon18 c.51483-74A>G 0.339856 0.4236 Uncertain 6_117250182_C->T 6 117250182 117250182 C T snp 896.77 1/1 66 26 0 26 1.0 intronic rs673055 RFX6 AR NM_173560 exon18 c.51696+48C>T 0.340455 0.4226 0.213209 0.2558 0.3773 Uncertain 6_117252672_C->A 6 117252672 117252672 C A snp 1959.77 1/1 99 74 0 74 1.0 UTR3 rs631089 RFX6 AR 0.339058 0.4226 0.210858 0.2698 0.3940 Uncertain 6_117252759_T->G 6 117252759 117252759 T G snp 584.77 1/1 45 17 0 17 1.0 UTR3 rs630695 RFX6 AR 0.339856 0.4226 Uncertain 6_117665153_T->C 6 117665153 117665153 T C snp 180.77 0/1 99 14 8 6 0.43 intronic rs118089216 ROS1 AU NM_002944 exon17 c.55568-69T>C 0.0199681 0.0317 Uncertain 6_117674087_G->A 6 117674087 117674087 G A snp 951.77 0/1 99 84 45 39 0.46 intronic rs9481703 ROS1 AU NM_002944 exon18 c.64498-65G>A 0.26278 0.2728 Uncertain 6_117681436_-->AC 6 117681436 117681436 - AC indel 1632.73 ./1 99 47 3 44 0.94 intronic rs36181502 ROS1 AU NM_002944 exon22 c.71850-68insAC Uncertain 6_117681436_-->ACAC 6 117681436 117681436 - ACAC indel 1632.73 ./1 99 47 3 44 0.94 intronic rs150963992 ROS1 AU NM_002944 exon22 c.71850-68insACAC Uncertain 6_117686943_A->T 6 117686943 117686943 A T snp 860.77 1/1 63 29 0 29 1.0 intronic rs2243383 ROS1 AU NM_002944 exon25 c.77250+39A>T 0.609225 0.5863 0.553400 0.5679 0.6204 Uncertain 6_117714346_C->G 6 117714346 117714346 C G snp 1523.77 1/1 74 61 1 60 0.98 intronic rs1535330 ROS1 AU NM_002944 exon33 c.104732-40C>G 0.558506 0.5913 0.478010 0.4682 0.6061 Uncertain 6_117715278_T->A 6 117715278 117715278 T A snp 37.77 0/1 66 6 4 2 0.33 intronic rs2208423 ROS1 AU NM_002944 exon34 c.105670-46T>A 0.0307508 0.0853 0.000617 0.0184 0.0816 ID=COSN167872;OCCURENCE=1(large_intestine) Uncertain 6_117724462_C->A 6 117724462 117724462 C A snp 334.77 0/1 99 37 22 15 0.41 intronic rs2243379 ROS1 AU NM_002944 exon38 c.114786+22C>A 0.669329 0.5575 0.594264 0.5462 0.5629 Uncertain 6_117724499_A->C 6 117724499 117724499 A C snp 262.77 0/1 99 25 13 12 0.48 intronic rs1407179 ROS1 AU NM_002944 exon38 c.114786+59A>C 0.67472 0.5585 Uncertain 6_117725578_T->A 6 117725578 117725578 T A snp 1134.77 0/1 99 98 54 44 0.45 exonic rs2243378 ROS1 AU synonymous SNV NM_002944 exon5 c.A303T p.L101L 0.67512 0.5675 0.599185 0.5497 0.5776 Uncertain 6_117853264_C->G 6 117853264 117853264 C G snp 178.9 1/1 15 5 0 5 1.0 intronic rs210650 DCBLD1 AU NM_173674 exon6 c.49478-158C>G 1 1 Uncertain 6_117858479_T->C 6 117858479 117858479 T C snp 223.77 0/1 57 9 2 7 0.78 intronic rs80352372 DCBLD1 AU NM_173674 exon7 c.54444+91T>C 0.0852636 0.1508 Uncertain 6_117860508_A->G 6 117860508 117860508 A G snp 588.77 0/1 99 43 18 25 0.58 exonic rs74499389 DCBLD1 AU nonsynonymous SNV NM_173674 exon9 c.A1067G p.K356R 0.0277556 0.0635 0.000923 0.0197 0.0534 0.48 T 1.000 P -0.355 T 0.002 T 0.007 T Pathogenic 6_117864144_A->G 6 117864144 117864144 A G snp 1338.77 1/1 99 36 0 36 1.0 intronic rs210619 DCBLD1 AU NM_173674 exon12 c.60342-142A>G 0.626597 0.5099 Uncertain 6_117865928_C->T 6 117865928 117865928 C T snp 166.77 0/1 99 16 10 6 0.38 intronic rs9320608 DCBLD1 AU NM_173674 exon13 c.61796+188C>T 0.616214 0.5069 Uncertain 6_117869491_G->A 6 117869491 117869491 G A snp 3037.77 0/1 99 250 126 124 0.5 intronic rs210621 DCBLD1 AU NM_173674 exon14 c.62816+2731G>A 0.800919 0.5754 0.7958 0.6265 Uncertain 6_117996818_T->C 6 117996818 117996818 T C snp 155.9 1/1 15 11 0 11 1.0 UTR5 rs9767451 NUS1 AR 0.909744 0.8403 0.8963 0.5730 Uncertain 6_118228803_G->T 6 118228803 118228803 G T snp 409.77 0/1 99 41 22 19 0.46 UTR5 SLC35F1 AU Uncertain 6_118801174_T->C 6 118801174 118801174 T C snp 420.77 0/1 99 30 13 17 0.57 intronic rs9481811 CEP85L AU NM_001178035 exon4 c.14517+90T>C 0.127796 0.0476 Uncertain 6_118832320_T->C 6 118832320 118832320 T C snp 156.78 0/1 24 6 1 5 0.83 intronic rs9489424 CEP85L AU NM_001178035 exon9 c.45893-140T>C 0.607428 0.3185 Uncertain 6_118886961_G->T 6 118886961 118886961 G T snp 1425.77 0/1 99 113 54 59 0.52 exonic rs3734382 CEP85L AU nonsynonymous SNV NM_001042475 exon3 c.C751A p.P251T 0.606629 0.3185 0.739889 0.6707 0.3516 1 T 0.0 P -0.969 T 0.0 T 0.0 T Pathogenic 6_118972633_G->T 6 118972633 118972633 G T snp 126.77 0/1 99 12 5 7 0.58 UTR5 rs62422236 CEP85L AU 0.0880591 0.0377 Uncertain 6_118973953_A->G 6 118973953 118973953 A G snp 503.77 0/1 99 50 25 25 0.5 upstream rs9489486 CEP85L AU 0.605631 0.3185 0.6936 0.3416 Uncertain 6_118973998_G->T 6 118973998 118973998 G T snp 502.77 0/1 99 43 21 22 0.51 upstream rs1936059 CEP85L AU 0.316893 0.6498 Uncertain 6_118974042_C->T 6 118974042 118974042 C T snp 289.77 0/1 99 26 15 11 0.42 intergenic rs9489487 CEP85L AU 0.605431 0.3185 Uncertain 6_119137514_C->A 6 119137514 119137514 C A snp 885.77 0/1 99 59 25 34 0.58 intronic rs140415491 MCM9 AR NM_017696 exon1 c.1471+57C>A 0.00459265 0.0228 Uncertain 6_119149149_C->G 6 119149149 119149149 C G snp 3031.77 1/1 99 119 0 119 1.0 exonic rs284921 MCM9 AR nonsynonymous SNV NM_017696 exon9 c.G1673C p.C558S 0.911142 0.9395 0.8511 0.9234 1 T 1.000 P -0.819 T 0.0 T 0.0 T Pathogenic 6_119177480_T->G 6 119177480 119177480 T G snp 2151.77 1/1 99 72 0 72 1.0 intronic rs36160966 MCM9 AR NM_017696 exon6 c.41547-53T>G 0.6873 0.6954 Uncertain 6_119215402_A->C 6 119215402 119215402 A C snp 136.03 1/1 12 4 0 4 1.0 UTR5 rs11542663 ASF1A AU 0.397364 0.6508 Uncertain 6_119244845_G->A 6 119244845 119244845 G A snp 93.28 1/1 9 3 0 3 1.0 intronic rs7746114 MCM9 AR NM_153255 exon5 c.12187-130G>A 0.913339 0.9296 Uncertain 6_119300477_A->G 6 119300477 119300477 A G snp 2256.77 1/1 99 69 0 69 1.0 intronic rs4946382 FAM184A AU NM_024581 exon8 c.19262-52A>G 0.445487 0.6815 Uncertain 6_119323987_A->T 6 119323987 119323987 A T snp 1124.77 1/1 81 39 0 39 1.0 intronic rs3756940 FAM184A AU NM_024581 exon10 c.42796-76A>T 0.426917 0.6806 Uncertain 6_119327112_G->A 6 119327112 119327112 G A snp 691.77 1/1 51 18 0 18 1.0 intronic rs794262 FAM184A AU NM_024581 exon12 c.46344-499G>A 0.631589 0.754 Uncertain 6_119346912_G->A 6 119346912 119346912 G A snp 1485.77 1/1 72 45 1 44 0.98 intronic rs6929403 FAM184A AU NM_024581 exon17 c.64711+934G>A 0.502995 0.6825 Uncertain 6_119509870_G->A 6 119509870 119509870 G A snp 1435.77 1/1 99 43 0 43 1.0 intronic rs2142888 MAN1A1 AU NM_005907 exon3 c.8759+128G>A 0.679912 0.8343 Uncertain 6_119510739_C->T 6 119510739 119510739 C T snp 585.77 1/1 45 17 0 17 1.0 intronic rs2072888 MAN1A1 AU NM_005907 exon4 c.9845-89C>T 0.684105 0.8343 Uncertain 6_119510777_T->G 6 119510777 119510777 T G snp 1255.77 1/1 90 42 0 42 1.0 intronic rs2072889 MAN1A1 AU NM_005907 exon4 c.9845-51T>G 0.679113 0.8343 0.716428 Uncertain 6_119510941_C->A 6 119510941 119510941 C A snp 3563.77 1/1 99 130 1 129 0.99 exonic rs2072890 MAN1A1 AU synonymous SNV NM_005907 exon10 c.G1434T p.A478A 0.679113 0.8343 0.707827 0.7825 0.8194 Uncertain 6_119522252_G->T 6 119522252 119522252 G T snp 760.77 1/1 57 23 0 23 1.0 intronic rs3822996 MAN1A1 AU NM_005907 exon6 c.21435-166G>T 0.848043 0.8353 Uncertain 6_119522306_T->C 6 119522306 119522306 T C snp 2855.77 1/1 99 94 0 94 1.0 intronic rs9387641 MAN1A1 AU NM_005907 exon6 c.21435-112T>C 0.414736 0.5635 Uncertain 6_119531907_T->G 6 119531907 119531907 T G snp 500.77 1/1 39 15 0 15 1.0 intronic rs2267676 MAN1A1 AU NM_005907 exon7 c.25064+5860T>G 0.347045 0.5496 Uncertain 6_120336217_A->G 6 120336217 120336217 A G snp 158.77 0/1 99 9 4 5 0.56 upstream rs67803782 MIR3144 AU 0.203874 0.1171 Uncertain 6_120336269_G->A 6 120336269 120336269 G A snp 258.77 0/1 99 32 19 13 0.41 upstream rs66780530 MIR3144 AU 0.203874 0.1171 Uncertain 6_120336327_C->A 6 120336327 120336327 C A snp 384.77 0/1 99 43 24 19 0.44 ncRNA_exonic rs68035463 MIR3144 AU 0.203275 0.1171 0.2192 0.1207 Uncertain 6_120336384_G->A 6 120336384 120336384 G A snp 338.77 0/1 99 33 20 13 0.39 ncRNA_exonic rs67106263 MIR3144 AU 0.203674 0.1171 0.2204 0.1167 Uncertain 6_121412191_-->A 6 121412191 121412191 - A indel 199.92 1/1 5 16 1 15 0.94 splicing rs397887772 TBC1D32 AU NM_152730 exon2 c.10271+4insA 0.244609 0.0893 0.248709 0.2085 0.1105 Pathogenic 6_121434098_T->C 6 121434098 121434098 T C snp 88.77 0/1 30 5 1 4 0.8 intronic rs7771625 TBC1D32 AU NM_152730 exon5 c.32291-109T>C 0.188698 0.0744 Uncertain 6_121434153_C->A 6 121434153 121434153 C A snp 317.77 0/1 99 22 10 12 0.55 intronic rs17083186 TBC1D32 AU NM_152730 exon5 c.32291-54C>A 0.043131 0.0526 Uncertain 6_121436420_C->T 6 121436420 121436420 C T snp 625.77 0/1 99 39 13 26 0.67 intronic rs7772283 TBC1D32 AU NM_152730 exon6 c.34471+33C>T 0.279752 0.0903 0.263395 0.1938 0.0975 Uncertain 6_121436422_G->T 6 121436422 121436422 G T snp 1060.77 1/1 75 38 0 38 1.0 intronic rs7772508 TBC1D32 AU NM_152730 exon6 c.34471+35G>T 0.989217 1 0.989539 0.9966 1 Uncertain 6_121447445_G->T 6 121447445 121447445 G T snp 388.77 0/1 99 25 10 15 0.6 intronic rs55731091 TBC1D32 AU NM_152730 exon7 c.45607-78G>T 0.0461262 0.0526 Uncertain 6_121451095_C->T 6 121451095 121451095 C T snp 749.77 0/1 99 57 26 31 0.54 intronic rs1273728 TBC1D32 AU NM_152730 exon8 c.50856-1677C>T 0.329073 0.2202 0.1669 0.2273 Uncertain 6_121482295_A->G 6 121482295 121482295 A G snp 533.77 1/1 42 14 0 14 1.0 intronic rs1632545 TBC1D32 AU NM_152730 exon10 c.80286+93A>G 0.91873 0.9196 Uncertain 6_121491472_G->A 6 121491472 121491472 G A snp 1971.77 1/1 99 70 0 70 1.0 intronic rs1273749 TBC1D32 AU NM_152730 exon10 c.80286+9270G>A 0.867612 0.9177 Uncertain 6_121526447_G->C 6 121526447 121526447 G C snp 788.77 1/1 57 29 0 29 1.0 intronic rs9320795 TBC1D32 AU NM_152730 exon11 c.124393+138G>C Uncertain 6_121526459_G->T 6 121526459 121526459 G T snp 705.77 1/1 51 26 0 26 1.0 intronic rs35328788 TBC1D32 AU NM_152730 exon11 c.124393+150G>T 0.884984 0.9345 Uncertain 6_121526465_G->T 6 121526465 121526465 G T snp 620.77 1/1 45 22 0 22 1.0 intronic rs35549991 TBC1D32 AU NM_152730 exon11 c.124393+156G>T 0.886382 0.9345 Uncertain 6_121620608_G->T 6 121620608 121620608 G T snp 1685.77 1/1 99 61 0 61 1.0 exonic rs9387944 TBC1D32 AU nonsynonymous SNV NM_152730 exon10 c.C1124A p.T375K 0.990016 1 0.989966 0.9965 1 1 T 0.000 P -0.926 T 0.0 T 0.001 T Pathogenic 6_121625774_-->A 6 121625774 121625774 - A indel 294.73 0/1 99 50 31 19 0.38 splicing rs150140922 TBC1D32 AU NM_152730 exon26 c.223855+3insA 0.0712859 0.0605 0.0849 0.0622 Pathogenic 6_121629044_G->A 6 121629044 121629044 G A snp 236.77 0/1 99 40 28 12 0.3 intronic rs73526695 TBC1D32 AU NM_152730 exon28 c.227205-77G>A 0.0984425 0.0526 Uncertain 6_121629167_G->A 6 121629167 121629167 G A snp 2055.77 0/1 99 190 95 95 0.5 exonic rs9398629 TBC1D32 AU synonymous SNV NM_152730 exon5 c.C645T p.C215C 0.315695 0.5863 0.219155 0.2921 0.5810 Uncertain 6_121632008_T->A 6 121632008 121632008 T A snp 2573.77 1/1 99 87 0 87 1.0 intronic rs9372653 TBC1D32 AU NM_152730 exon29 c.230077+15T>A 0.989417 1 0.989182 0.9966 1 Uncertain 6_121642851_C->T 6 121642851 121642851 C T snp 2407.77 0/1 99 243 139 104 0.43 exonic rs7767455 TBC1D32 AU nonsynonymous SNV NM_152730 exon2 c.G245A p.R82Q 0.196286 0.1419 0.159034 0.0993 0.1720 1 T 0.001 P -0.923 T 0.001 T 0.0 T Pathogenic 6_121655392_A->G 6 121655392 121655392 A G snp 1557.77 0/1 99 126 59 67 0.53 intronic rs9490162 TBC1D32 AU NM_152730 exon32 c.253505-29A>G 0.169928 0.1756 0.148509 0.1087 0.1777 Uncertain 6_122720806_G->A 6 122720806 122720806 G A snp 1401.77 0/1 99 146 81 65 0.45 UTR5 rs6926219 HSF2 AU 0.548323 0.4266 Uncertain 6_122734972_G->A 6 122734972 122734972 G A snp 222.84 1/1 18 8 0 8 1.0 intronic rs549302 HSF2 AU NM_001135564 exon4 c.13912+178G>A 0.552117 0.4474 Uncertain 6_122743502_T->C 6 122743502 122743502 T C snp 367.77 0/1 90 20 5 15 0.75 intronic rs487487 HSF2 AU NM_001135564 exon8 c.22561+59T>C 0.713259 0.6994 Uncertain 6_122772692_T->C 6 122772692 122772692 T C snp 82.77 0/1 99 11 6 5 0.45 intronic rs510283 SERINC1 AU NM_020755 exon4 c.6620-116T>C 0.70647 0.6994 Uncertain 6_122775195_A->C 6 122775195 122775195 A C snp 233.77 0/1 99 17 8 9 0.53 intronic rs499825 SERINC1 AU NM_020755 exon7 c.9107-100A>C 0.816494 0.8383 Uncertain 6_122793033_A->G 6 122793033 122793033 A G snp 1252.77 0/1 99 74 29 45 0.61 upstream rs1267941 PKIB AU 0.818291 0.8393 Uncertain 6_123038887_C->G 6 123038887 123038887 C G snp 882.77 1/1 66 31 1 30 0.97 intronic rs6920792 PKIB AU NM_001270394 exon7 c.16299-44C>G 0.989018 1 0.9964 1 Uncertain 6_123038888_T->C 6 123038888 123038888 T C snp 855.77 1/1 63 32 0 32 1.0 intronic rs6900745 PKIB AU NM_001270394 exon7 c.16299-43T>C 0.989018 1 0.961458 0.9964 1 Uncertain 6_123101348_G->C 6 123101348 123101348 G C snp 398.77 1/1 30 12 0 12 1.0 intronic rs2171068 FABP7 AU NM_001446 exon2 c.496-87G>C 0.95647 1 Uncertain 6_123101373_T->G 6 123101373 123101373 T G snp 380.77 0/1 99 22 6 16 0.73 intronic rs2279382 FABP7 AU NM_001446 exon2 c.496-62T>G 0.257987 0.3462 ID=CS1010488;DIS=Bipolar disorder, association with;TAG=DP;PUB=19554614 DP Uncertain 6_123101647_A->G 6 123101647 123101647 A G snp 1515.77 1/1 99 52 0 52 1.0 intronic rs2243372 FABP7 AU NM_001446 exon2 c.669+39A>G 0.628195 0.6964 0.573889 0.6288 0.6726 Uncertain 6_123104703_A->G 6 123104703 123104703 A G snp 99.28 1/1 9 3 0 3 1.0 intronic rs9401596 FABP7 AU NM_001446 exon4 c.3922-158A>G 0.786941 0.754 Uncertain 6_123116925_C->A 6 123116925 123116925 C A snp 1174.77 0/1 99 131 78 53 0.4 exonic rs147950292 SMPDL3A AU nonsynonymous SNV NM_006714 exon2 c.C216A p.N72K 0.000308 0.0002 0.0001 0.94 T 1 D -0.415 T 0.565 P 0.239 P Pathogenic 6_123122385_A->C 6 123122385 123122385 A C snp 998.77 0/1 99 91 48 43 0.47 intronic rs9372718 SMPDL3A AU NM_006714 exon4 c.11963-69A>C 0.145567 0.3363 Uncertain 6_123126138_T->C 6 123126138 123126138 T C snp 1748.77 0/1 99 127 52 75 0.59 exonic rs61741159 SMPDL3A AU synonymous SNV NM_001286138 exon5 c.T430C p.L144L 0.0499201 0.0456 0.008458 0.0362 0.0468 Uncertain 6_123369910_T->C 6 123369910 123369910 T C snp 3163.77 1/1 99 111 0 111 1.0 intronic rs6900862 CLVS2 AU NM_001010852 exon4 c.50955+33T>C 0.946685 0.999 0.905952 0.9075 0.9999 Uncertain 6_123370012_G->T 6 123370012 123370012 G T snp 185.77 0/1 99 11 4 7 0.64 intronic rs4624884 CLVS2 AU NM_001010852 exon4 c.50955+135G>T 0.349641 0.6597 Uncertain 6_123377282_A->C 6 123377282 123377282 A C snp 176.9 1/1 15 5 0 5 1.0 intronic rs9388175 CLVS2 AU NM_001010852 exon5 c.58249+111A>C 0.796925 0.878 Uncertain 6_123385123_G->C 6 123385123 123385123 G C snp 262.8 1/1 21 7 0 7 1.0 UTR3 rs4403278 CLVS2 AU 0.890775 0.9157 Uncertain 6_123539609_C->T 6 123539609 123539609 C T snp 216.77 0/1 99 19 11 8 0.42 UTR3 rs361509 TRDN AR 0.375799 0.3304 Uncertain 6_123539684_C->T 6 123539684 123539684 C T snp 1378.77 0/1 99 110 54 56 0.51 UTR3 rs361508 TRDN AR 0.761182 0.5159 Uncertain 6_123539685_T->C 6 123539685 123539685 T C snp 1381.77 0/1 99 110 54 56 0.51 UTR3 rs1259 TRDN AR 0.465256 0.371 Uncertain 6_123539904_C->T 6 123539904 123539904 C T snp 1197.77 0/1 99 103 54 49 0.48 intronic rs7754205 TRDN AR NM_006073 exon1 c.140+19C>T 0.375998 0.3304 0.421240 0.4253 0.3703 Uncertain 6_123580660_C->T 6 123580660 123580660 C T snp 86.77 0/1 28 4 1 3 0.75 intronic rs12661887 TRDN AR NM_006073 exon7 c.41023-108C>T 0.335264 0.2907 Uncertain 6_123586300_C->A 6 123586300 123586300 C A snp 155.77 0/1 99 11 6 5 0.45 intronic rs9375238 TRDN AR NM_006073 exon9 c.46717-162C>A 0.253395 0.5069 Uncertain 6_123591138_T->A 6 123591138 123591138 T A snp 479.77 0/1 99 40 22 18 0.45 intronic rs1367676 TRDN AR NM_006073 exon11 c.51266+127T>A 0.324481 0.5069 Uncertain 6_123594510_-->A 6 123594510 123594510 - A indel 136.73 0/1 99 17 11 6 0.35 splicing rs147062785 TRDN AR NM_006073 exon14 c.54763+2insA 0.262979 0.5069 0.138016 0.2704 0.5356 Pathogenic 6_123595869_A->C 6 123595869 123595869 A C snp 62.74 1/1 6 4 0 4 1.0 intronic rs2873478 TRDN AR NM_006073 exon15 c.56070+54A>C 0.263179 0.5069 0.149096 Uncertain 6_123600101_A->- 6 123600101 123600101 A - indel 790.73 0/1 99 33 11 22 0.67 intronic rs143535631 TRDN AR NM_006073 exon17 c.60455-99delA Uncertain 6_123652881_A->G 6 123652881 123652881 A G snp 153.77 0/1 50 7 2 5 0.71 intronic rs142783745 TRDN AR NM_006073 exon19 c.113278-142A>G 0.0111821 0.0486 Uncertain 6_123658825_G->T 6 123658825 123658825 G T snp 221.77 0/1 99 27 17 10 0.37 intronic rs9401658 TRDN AR NM_006073 exon20 c.119069+11G>T 0.29373 0.6111 0.123493 0.2749 0.5743 Uncertain 6_123687288_A->C 6 123687288 123687288 A C snp 3140.77 1/1 99 122 0 122 1.0 exonic rs2873479 TRDN AR nonsynonymous SNV NM_006073 exon20 c.T1313G p.I438S 0.939297 0.9196 0.925514 0.9240 0.9158 0.7 T 1.000 P -0.929 T 0.0 T 0.0 T Pathogenic 6_123687432_T->C 6 123687432 123687432 T C snp 981.77 1/1 72 31 0 31 1.0 intronic rs7769808 TRDN AR NM_001251987 exon2 c.13658+105T>C 0.954473 0.994 Uncertain 6_123696766_G->T 6 123696766 123696766 G T snp 428.77 0/1 99 56 35 21 0.38 exonic rs17737379 TRDN AR nonsynonymous SNV NM_006073 exon19 c.C1257A p.D419E 0.147364 0.0665 0.161198 0.1374 0.1124 1 T 1.000 P -0.910 T 0.0 T 0.0 T Pathogenic 6_123702499_G->A 6 123702499 123702499 G A snp 628.77 0/1 99 46 18 28 0.61 intronic rs3813328 TRDN AR NM_001251987 exon6 c.28845-15G>A 0.476238 0.752 0.303452 0.4735 0.7267 Uncertain 6_123702642_T->G 6 123702642 123702642 T G snp 650.77 0/1 99 48 20 28 0.58 intronic rs9482382 TRDN AR NM_001251987 exon6 c.28866+107T>G 0.120807 0.0655 Uncertain 6_123703168_C->T 6 123703168 123703168 C T snp 187.77 0/1 99 27 16 11 0.41 intronic rs56239280 TRDN AR NM_001251987 exon7 c.29593-94C>T 0.120807 0.0655 Uncertain 6_123709833_T->C 6 123709833 123709833 T C snp 536.77 0/1 99 35 15 20 0.57 intronic rs17737834 TRDN AR NM_001251987 exon8 c.36027+137T>C 0.120807 0.0655 Uncertain 6_123714656_G->- 6 123714656 123714656 G - indel 147.73 0/1 99 18 11 7 0.39 intronic rs372285636 TRDN AR NM_001251987 exon9 c.41099-112delG Uncertain 6_123714657_C->T 6 123714657 123714657 C T snp 187.77 0/1 99 19 10 9 0.47 intronic rs73771941 TRDN AR NM_001251987 exon9 c.41099-111C>T 0.120607 0.0655 Uncertain 6_123758492_C->T 6 123758492 123758492 C T snp 843.77 1/1 60 33 0 33 1.0 intronic rs9320936 TRDN AR NM_001251987 exon10 c.85538-715C>T 0.638978 0.8641 0.5827 0.8814 Uncertain 6_123819847_T->C 6 123819847 123819847 T C snp 1816.77 1/1 99 62 0 62 1.0 intronic rs9320940 TRDN AR NM_001251987 exon13 c.144728+1450T>C 0.824281 0.877 Uncertain 6_123833457_G->C 6 123833457 123833457 G C snp 925.77 1/1 66 38 0 38 1.0 exonic rs6902416 TRDN AR nonsynonymous SNV NM_006073 exon7 c.C601G p.L201V 0.843251 0.878 0.842452 0.8259 0.8578 1 T 0.000 P -1.030 T 0.0 T 0.0 T Pathogenic 6_123892001_G->A 6 123892001 123892001 G A snp 1183.77 1/1 87 35 0 35 1.0 intronic rs2145735 TRDN AR NM_001251987 exon20 c.218398-66G>A 0.495807 0.8284 Uncertain 6_124603378_A->G 6 124603378 124603378 A G snp 1006.77 0/1 99 104 64 40 0.38 intronic rs1916790 NKAIN2 AU NM_001040214 exon2 c.478805-772A>G 0.201278 0.2669 0.1186 0.1897 Uncertain 6_124603390_A->G 6 124603390 124603390 A G snp 749.77 0/1 99 79 48 31 0.39 intronic rs802497 NKAIN2 AU NM_001040214 exon2 c.478805-760A>G 0.49381 0.5069 0.3177 0.4516 0.27 T 0.0 P -0.933 T Uncertain 6_124603503_G->A 6 124603503 124603503 G A snp 35.77 0/1 64 8 5 3 0.38 intronic rs713214 NKAIN2 AU NM_001040214 exon2 c.478805-647G>A 0.11901 0.2669 Uncertain 6_124604038_T->C 6 124604038 124604038 T C snp 719.77 0/1 99 64 34 30 0.47 intronic rs41284438 NKAIN2 AU NM_001040214 exon2 c.478805-112T>C 0.154553 0.2728 Uncertain 6_124604055_G->T 6 124604055 124604055 G T snp 1074.77 0/1 99 92 49 43 0.47 intronic rs41284440 NKAIN2 AU NM_001040214 exon2 c.478805-95G>T 0.169728 0.1845 Uncertain 6_124979689_T->C 6 124979689 124979689 T C snp 2485.77 1/1 99 86 0 86 1.0 intronic rs1479039 NKAIN2 AU NM_001040214 exon4 c.854187+157T>C 0.842053 0.8542 Uncertain 6_125112614_C->A 6 125112614 125112614 C A snp 2231.77 0/1 99 211 111 100 0.47 intronic rs877058 NKAIN2 AU NM_001040214 exon5 c.987200+69C>A 0.208466 0.4911 0.132282 Uncertain 6_125139473_T->G 6 125139473 125139473 T G snp 1201.77 0/1 99 117 65 52 0.44 intronic rs1923726 NKAIN2 AU NM_001040214 exon6 c.1014187-59T>G 0.608227 0.4514 0.399474 Uncertain 6_125139474_G->C 6 125139474 125139474 G C snp 1147.77 0/1 99 116 65 51 0.44 intronic rs1923727 NKAIN2 AU NM_001040214 exon6 c.1014187-58G>C 0.607628 0.4514 0.427070 Uncertain 6_125144352_T->G 6 125144352 125144352 T G snp 1715.77 0/1 99 164 85 79 0.48 intronic rs2025251 NKAIN2 AU NM_001040214 exon7 c.1019020-13T>G 0.367812 0.4395 0.433800 0.5104 0.4289 Uncertain 6_125229473_T->G 6 125229473 125229473 T G snp 1110.77 0/1 99 97 51 46 0.47 ncRNA_exonic rs57796502 RNF217-AS1 AU 0.132987 0.1756 0.2895 0.5 Uncertain 6_125229538_T->C 6 125229538 125229538 T C snp 4484.77 1/1 99 143 0 143 1.0 ncRNA_exonic rs781733 RNF217-AS1 AU 0.811502 0.999 0.8855 1 Uncertain 6_125229856_C->T 6 125229856 125229856 C T snp 761.77 1/1 57 20 0 20 1.0 ncRNA_exonic rs781734 RNF217-AS1 AU 0.809704 0.999 0.8634 1 Uncertain 6_125230075_A->C 6 125230075 125230075 A C snp 2007.77 1/1 99 75 0 75 1.0 ncRNA_exonic rs781735 RNF217-AS1 AU 0.979233 1 0.9997 1 Uncertain 6_125230575_G->T 6 125230575 125230575 G T snp 1104.77 1/1 78 42 0 42 1.0 ncRNA_exonic rs1577203 RNF217-AS1 AU 0.79972 0.999 0.8626 1 Uncertain 6_125230965_A->G 6 125230965 125230965 A G snp 2108.77 1/1 99 72 0 72 1.0 ncRNA_exonic rs1761559 RNF217-AS1 AU 0.809704 0.999 0.8645 1 Uncertain 6_125231037_G->A 6 125231037 125231037 G A snp 1114.77 1/1 81 40 0 40 1.0 ncRNA_exonic rs1761560 RNF217-AS1 AU 0.809505 0.998 0.8651 1 Uncertain 6_125231246_T->A 6 125231246 125231246 T A snp 888.77 1/1 66 30 0 30 1.0 ncRNA_exonic rs1750578 RNF217-AS1 AU 0.803115 0.999 0.8594 1 Uncertain 6_125232072_T->C 6 125232072 125232072 T C snp 1460.77 1/1 99 48 0 48 1.0 ncRNA_exonic rs699387 RNF217-AS1 AU 0.811502 0.999 0.756106 0.8307 0.9994 Uncertain 6_125232368_G->T 6 125232368 125232368 G T snp 2618.77 1/1 99 94 0 94 1.0 ncRNA_exonic rs781740 RNF217-AS1 AU 0.8350 0.9997 Uncertain 6_125232434_G->A 6 125232434 125232434 G A snp 959.77 0/1 99 65 28 37 0.57 ncRNA_exonic rs67942759 RNF217-AS1 AU 0.131789 0.1746 0.058622 0.1232 0.2170 Uncertain 6_125232594_C->A 6 125232594 125232594 C A snp 99.28 1/1 9 3 0 3 1.0 ncRNA_exonic rs781741 RNF217-AS1 AU 0.803115 0.999 0.8769 1 Uncertain 6_125232853_A->G 6 125232853 125232853 A G snp 483.77 1/1 36 15 0 15 1.0 ncRNA_exonic rs6569400 RNF217-AS1 AU 0.811302 0.999 0.8642 1 Uncertain 6_125233518_A->G 6 125233518 125233518 A G snp 4088.77 1/1 99 130 0 130 1.0 ncRNA_exonic rs781742 RNF217-AS1 AU 0.84984 0.998 0.793338 0.8401 0.9987 Uncertain 6_125252731_C->T 6 125252731 125252731 C T snp 405.77 0/1 99 25 7 18 0.72 ncRNA_intronic rs4896596 RNF217-AS1 AU 0.308107 0.3403 Uncertain 6_125266341_T->A 6 125266341 125266341 T A snp 225.77 0/1 99 14 7 7 0.5 ncRNA_intronic rs141432370 RNF217-AS1 AU 0.00658946 0.0317 Uncertain 6_125284457_T->C 6 125284457 125284457 T C snp 6303.77 1/1 99 227 0 227 1.0 exonic rs9401790 RNF217 AU nonsynonymous SNV NM_001286398 exon1 c.T767C p.V256A 0.866414 0.8909 0.8485 0.9343 0.75 T 0.949 P -1.085 T 0.0 T 0.0 T Pathogenic 6_125330620_A->- 6 125330620 125330620 A - indel 459.73 0/1 99 37 11 26 0.7 intronic rs112538609 RNF217 AU NM_152553 exon3 c.6+192delA 0.243011 0.1389 Uncertain 6_125366290_A->- 6 125366290 125366290 A - indel 881.73 0/1 99 73 33 40 0.55 intronic rs34249175 RNF217 AU NM_152553 exon4 c.35934-66delA 0.299121 0.376 Uncertain 6_125475139_G->A 6 125475139 125475139 G A snp 7185.77 1/1 99 250 0 250 1.0 intronic rs2277111 TPD52L1 AU NM_003287 exon1 c.19+23G>A 0.242412 0.2381 0.207133 0.3340 0.2993 Uncertain 6_125573194_A->G 6 125573194 125573194 A G snp 1575.77 0/1 99 133 62 71 0.53 intronic rs3799734 TPD52L1 AU NM_003287 exon5 c.99765-1668A>G 0.552716 0.6677 0.5360 0.6869 Uncertain 6_125573312_C->A 6 125573312 125573312 C A snp 587.77 0/1 99 67 38 29 0.43 intronic rs3799733 TPD52L1 AU NM_003287 exon5 c.99765-1550C>A 0.251997 0.2887 Uncertain 6_125597248_A->- 6 125597248 125597248 A - indel 1711.73 0/1 99 107 52 55 0.51 UTR3 rs113530993 HDDC2 AU 0.168331 0.0942 0.1514 0.1019 Uncertain 6_125597434_AG->- 6 125597434 125597435 AG - indel 1472.73 0/1 99 67 27 40 0.6 intronic rs113374738 HDDC2 AU NM_016063 exon1 c.98+45_98+46delAG 0.168331 0.0942 0.211971 0.1503 0.1017 ID=COSN169008;OCCURENCE=1(large_intestine) Uncertain 6_125597549_T->C 6 125597549 125597549 T C snp 133.03 1/1 12 5 0 5 1.0 intronic rs11752330 HDDC2 AU NM_016063 exon1 c.98+160T>C 0.196685 0.1071 Uncertain 6_125598199_T->C 6 125598199 125598199 T C snp 808.77 0/1 99 69 42 27 0.39 intronic rs2243392 HDDC2 AU NM_016063 exon2 c.956-48T>C 0.503395 0.4018 0.429418 0.3395 0.4488 Uncertain 6_125598200_G->A 6 125598200 125598200 G A snp 828.77 0/1 99 70 42 28 0.4 intronic rs2243391 HDDC2 AU NM_016063 exon2 c.956-47G>A 0.171526 0.1071 0.198982 0.1522 0.1138 Uncertain 6_125614100_C->A 6 125614100 125614100 C A snp 363.77 0/1 99 58 40 18 0.31 intronic rs1417701 HDDC2 AU NM_016063 exon3 c.16764+45C>A 0.196885 0.1071 0.229128 0.1603 0.1175 Uncertain 6_125614121_C->A 6 125614121 125614121 C A snp 510.77 0/1 99 63 40 23 0.37 intronic rs1417700 HDDC2 AU NM_016063 exon3 c.16764+66C>A 0.196885 0.1071 0.226456 0.1655 0.1215 Uncertain 6_125620878_T->C 6 125620878 125620878 T C snp 2788.77 0/1 99 243 126 117 0.48 intronic rs987168 HDDC2 AU NM_016063 exon5 c.24392-805T>C 0.255791 0.13 Uncertain 6_125621618_A->G 6 125621618 125621618 A G snp 687.77 0/1 99 60 31 29 0.48 intronic rs2243390 HDDC2 AU NM_016063 exon5 c.24392-65A>G 0.283147 0.1429 Uncertain 6_125621645_C->T 6 125621645 125621645 C T snp 946.77 0/1 99 80 38 42 0.53 intronic rs2243389 HDDC2 AU NM_016063 exon5 c.24392-38C>T 0.258586 0.1429 0.280839 0.1846 0.1596 Uncertain 6_125623185_A->T 6 125623185 125623185 A T snp 354.77 0/1 99 40 22 18 0.45 UTR5 rs73581683 HDDC2 AU 0.280751 0.1399 Uncertain 6_125623247_C->T 6 125623247 125623247 C T snp 62.77 0/1 91 13 8 5 0.38 UTR5 rs73581685 HDDC2 AU 0.252396 0.126 Uncertain 6_125623268_-->TCCTCT 6 125623268 125623268 - TCCTCT indel 541.77 1/1 21 7 0 7 1.0 UTR5 rs374669878 HDDC2 AU 0.338658 0.3185 Uncertain 6_126070789_T->G 6 126070789 126070789 T G snp 337.78 1/1 27 9 0 9 1.0 UTR5 rs7764016 HEY2 AU 0.428514 0.7232 Uncertain 6_126072853_C->G 6 126072853 126072853 C G snp 182.9 1/1 15 6 0 6 1.0 intronic rs2875881 HEY2 AU NM_012259 exon2 c.2024-93C>G 0.570288 0.7748 Uncertain 6_126075710_T->- 6 126075710 126075710 T - indel 373.7 1/1 6 33 4 29 0.88 intronic rs10617027 HEY2 AU NM_012259 exon4 c.4770+18delT 0.44349 0.5526 0.4365 0.5084 Uncertain 6_126202138_A->G 6 126202138 126202138 A G snp 1012.77 0/1 99 80 38 42 0.53 intronic rs2295955 NCOA7 AU NM_001199621 exon5 c.6160-97A>G 0.242612 0.247 Uncertain 6_126202269_AGT->- 6 126202269 126202271 AGT - indel 3939.73 0/1 99 152 75 77 0.51 exonic rs780949200 NCOA7 AU nonframeshift deletion NM_001199621 exon5 c.181_183del p.61_61del 0.0002 0.0027 Uncertain 6_126210395_T->G 6 126210395 126210395 T G snp 3333.77 0/1 99 250 123 127 0.51 exonic rs6919947 NCOA7 AU nonsynonymous SNV NM_001199621 exon8 c.T850G p.S284A 0.478435 0.5903 0.478548 0.4880 0.5995 1 T 0.0 P -1.069 T 0.0 T 0.0 T Pathogenic 6_126221008_G->A 6 126221008 126221008 G A snp 677.77 0/1 99 55 30 25 0.45 intronic rs11154336 NCOA7 AU NM_001199621 exon9 c.15881+9052G>A 0.421126 0.5248 Uncertain 6_126242004_C->G 6 126242004 126242004 C G snp 1318.77 1/1 96 39 0 39 1.0 intronic rs4563736 NCOA7 AU NM_001199621 exon11 c.46013-84C>G 1 1 Uncertain 6_126242005_G->C 6 126242005 126242005 G C snp 1374.77 1/1 99 39 0 39 1.0 intronic rs4451158 NCOA7 AU NM_001199621 exon11 c.46013-83G>C 1 1 Uncertain 6_126249914_T->G 6 126249914 126249914 T G snp 1248.77 0/1 99 153 93 60 0.39 exonic rs1567 NCOA7 AU nonsynonymous SNV NM_001199622 exon6 c.T657G p.D219E 0.165136 0.2401 0.170306 0.1282 0.2117 1 T 0.000 P -0.967 T 0.0 T 0.001 T Pathogenic 6_126278230_G->C 6 126278230 126278230 G C snp 5138.77 1/1 99 189 0 189 1.0 exonic rs2295005 HINT3 AU nonsynonymous SNV NM_138571 exon1 c.G107C p.G36A 0.694688 0.9534 0.578732 0.5890 0.9495 1 T 0.0 P -0.901 T 0.0 T 0.0 T Pathogenic 6_126288023_T->C 6 126288023 126288023 T C snp 4188.77 1/1 99 143 0 143 1.0 intronic rs3757212 HINT3 AU NM_138571 exon2 c.9909-9T>C 0.779353 0.9563 0.694910 0.7217 0.9489 Uncertain 6_126307962_A->G 6 126307962 126307962 A G snp 372.77 1/1 30 10 0 10 1.0 intronic rs6569448 TRMT11 AU NM_001031712 exon1 c.72+194A>G 0.777556 0.9563 Uncertain 6_126319881_T->A 6 126319881 126319881 T A snp 1627.77 1/1 99 61 0 61 1.0 intronic rs6569449 TRMT11 AU NM_001031712 exon6 c.12134+51T>A 0.779752 0.9563 0.692603 0.7146 0.9488 Uncertain 6_126334041_G->A 6 126334041 126334041 G A snp 4160.77 1/1 99 128 0 128 1.0 intronic rs2206941 TRMT11 AU NM_001031712 exon10 c.26302+43G>A 0.779153 0.9563 0.691758 0.7149 0.9487 Uncertain 6_126669479_C->A 6 126669479 126669479 C A snp 575.77 1/1 42 20 0 20 1.0 intronic rs9401876 CENPW AU NM_001286524 exon3 c.8192-132C>A 0.552716 0.9732 Uncertain 6_127471533_C->T 6 127471533 127471533 C T snp 788.77 0/1 99 59 31 28 0.47 intronic rs9491699 RSPO3 AU NM_032784 exon3 c.31233-37C>T 0.406749 0.4871 0.411027 0.4542 0.5452 Uncertain 6_127471791_C->T 6 127471791 127471791 C T snp 961.77 0/1 99 107 63 44 0.41 intronic rs3734626 RSPO3 AU NM_032784 exon3 c.31380+74C>T 0.453075 0.4931 Uncertain 6_127476516_G->A 6 127476516 127476516 G A snp 1897.77 0/1 99 186 104 82 0.44 exonic rs1892172 RSPO3 AU synonymous SNV NM_032784 exon4 c.G567A p.L189L 0.532748 0.494 0.553360 0.5383 0.5503 Uncertain 6_127476717_C->T 6 127476717 127476717 C T snp 156.77 0/1 99 8 3 5 0.63 intronic rs2489629 RSPO3 AU NM_032784 exon4 c.36246+134C>T 0.584265 0.5556 Uncertain 6_127898305_C->T 6 127898305 127898305 C T snp 157.77 0/1 99 19 11 8 0.42 upstream rs9388590 C6orf58 AU 0.51877 0.9306 0.319748 0.4559 0.9311 Uncertain 6_127899971_T->A 6 127899971 127899971 T A snp 1901.77 0/1 99 139 59 80 0.58 intronic rs9385435 C6orf58 AU NM_001010905 exon2 c.1587+54T>A 0.132188 0.4722 0.014017 Uncertain 6_127901291_G->T 6 127901291 127901291 G T snp 135.03 1/1 12 4 0 4 1.0 intronic rs2221878 C6orf58 AU NM_001010905 exon3 c.3079-118G>T 0.812101 0.997 Uncertain 6_128176383_A->G 6 128176383 128176383 A G snp 572.77 1/1 45 17 0 17 1.0 intronic rs270032 THEMIS AU NM_001164685 exon6 c.145204+50A>G 0.666733 0.8333 0.613004 0.6611 0.8356 Uncertain 6_128297986_G->T 6 128297986 128297986 G T snp 1235.77 0/1 99 101 54 47 0.47 intronic rs4321844 PTPRK AU NM_002844 exon4 c.6556+59G>T 0.790735 0.5843 Uncertain 6_128304358_-->C 6 128304358 128304358 - C indel 1874.73 0/1 99 92 43 49 0.53 intronic rs113581270 PTPRK AU NM_002844 exon8 c.13015-28insC 0.230831 0.1409 0.277742 0.3944 0.2225 Uncertain 6_128306769_C->T 6 128306769 128306769 C T snp 136.03 1/1 12 4 0 4 1.0 intronic rs6919966 PTPRK AU NM_002844 exon9 c.15494-96C>T 0.453874 0.5139 Uncertain 6_128312033_A->G 6 128312033 128312033 A G snp 1420.77 1/1 99 49 1 48 0.98 splicing rs12055782 PTPRK AU NM_002844 exon10 c.20659+3A>G 0.263179 0.4454 0.220154 0.2965 0.4160 Pathogenic 6_128312114_-->AG 6 128312114 128312114 - AG indel 503.74 1/1 30 10 0 10 1.0 intronic rs5879871 PTPRK AU NM_002844 exon10 c.20659+84insAG 0.472644 0.5139 Uncertain 6_128312324_T->C 6 128312324 128312324 T C snp 434.77 1/1 33 14 0 14 1.0 intronic rs9388612 PTPRK AU NM_002844 exon11 c.21067-114T>C 0.26258 0.4435 Uncertain 6_128322437_T->C 6 128322437 128322437 T C snp 720.77 0/1 99 68 35 33 0.49 intronic rs34601789 PTPRK AU NM_001291981 exon17 c.30981+85T>C 0.19988 0.1438 Uncertain 6_128327031_A->G 6 128327031 128327031 A G snp 111.77 0/1 99 11 7 4 0.36 intronic rs45582334 PTPRK AU NM_001291982 exon5 c.5754-139A>G 0.20627 0.1438 Uncertain 6_128330249_T->C 6 128330249 128330249 T C snp 2935.77 1/1 99 107 0 107 1.0 intronic rs9321104 PTPRK AU NM_002844 exon17 c.38903-25T>C 0.88758 0.998 0.840228 0.9034 0.9935 Uncertain 6_128385998_A->G 6 128385998 128385998 A G snp 429.77 0/1 99 37 21 16 0.43 ncRNA_intronic rs4897241 LOC101928140 AU 0.803914 0.9494 0.747700 Uncertain 6_128388990_A->G 6 128388990 128388990 A G snp 883.77 0/1 99 65 27 38 0.58 ncRNA_intronic rs4897242 LOC101928140 AU 0.806709 0.9494 Uncertain 6_128389074_T->C 6 128389074 128389074 T C snp 309.78 1/1 24 8 0 8 1.0 ncRNA_intronic rs4897243 LOC101928140 AU 0.910343 1 Uncertain 6_128404848_T->C 6 128404848 128404848 T C snp 800.77 0/1 99 74 35 39 0.53 ncRNA_exonic rs181523514 LOC101928140 AU 0.00119808 0.003 0.0004 0.0029 Uncertain 6_128556891_G->A 6 128556891 128556891 G A snp 48.74 1/1 6 2 0 2 1.0 intronic rs9388624 PTPRK AU NM_002844 exon26 c.269808-4288G>A 0.0858626 0.2867 Uncertain 6_128559301_A->G 6 128559301 128559301 A G snp 230.77 0/1 99 20 11 9 0.45 intronic rs9375556 PTPRK AU NM_002844 exon26 c.269808-1878A>G 0.154153 0.3155 0.055222 0.0435 0.3391 Uncertain 6_128559329_C->T 6 128559329 128559329 C T snp 58.77 0/1 87 6 3 3 0.5 intronic rs117695083 PTPRK AU NM_002844 exon26 c.269808-1850C>T 0.0449281 0.0149 0.1034 0.0203 Uncertain 6_128561002_A->G 6 128561002 128561002 A G snp 224.77 0/1 57 9 2 7 0.78 intronic rs9402030 PTPRK AU NM_002844 exon26 c.269808-177A>G 0.153754 0.3155 Uncertain 6_128561307_G->- 6 128561307 128561307 G - indel 1578.73 0/1 99 100 48 52 0.52 intronic rs72291480 PTPRK AU NM_002844 exon26 c.269924+12delG 0.153754 0.3155 0.082907 0.0680 0.3360 Uncertain 6_128562572_C->T 6 128562572 128562572 C T snp 122.77 0/1 64 7 2 5 0.71 intronic rs61583694 PTPRK AU NM_002844 exon27 c.272294-1093C>T 0.154153 0.3165 Uncertain 6_129381026_C->A 6 129381026 129381026 C A snp 3375.77 1/1 99 134 0 134 1.0 exonic rs4404787 LAMA2 AR synonymous SNV NM_000426 exon3 c.C381A p.T127T 0.936701 0.9673 0.947332 0.9578 0.9742 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_multiple_submitters\x2c_no_conflicts;CLNACC=RCV000078766.4;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 6_129612624_C->T 6 129612624 129612624 C T snp 325.77 0/1 99 24 11 13 0.54 intronic rs1015846 LAMA2 AR NM_000426 exon20 c.408368-134C>T 0.59365 0.5268 Uncertain 6_129612808_A->G 6 129612808 129612808 A G snp 1598.77 0/1 99 140 67 73 0.52 exonic rs1027199 LAMA2 AR synonymous SNV NM_000426 exon20 c.A2799G p.Q933Q 0.313898 0.4742 0.258419 0.2683 0.4405 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_multiple_submitters\x2c_no_conflicts;CLNACC=RCV000078759.4;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 6_129619059_G->A 6 129619059 129619059 G A snp 539.77 0/1 99 67 40 27 0.4 intronic rs11967042 LAMA2 AR NM_000426 exon21 c.414620+49G>A 0.182508 0.4107 0.084205 0.1346 0.3900 Uncertain 6_129619150_G->A 6 129619150 129619150 G A snp 222.77 0/1 99 17 9 8 0.47 intronic rs1027200 LAMA2 AR NM_000426 exon21 c.414620+140G>A 0.556709 0.5536 Uncertain 6_129622077_T->C 6 129622077 129622077 T C snp 569.77 0/1 99 52 28 24 0.46 intronic LAMA2 AR NM_000426 exon22 c.417627+60T>C Uncertain 6_129633971_TG->- 6 129633971 129633972 TG - indel 1272.73 0/1 99 74 43 31 0.42 intronic rs372962551 LAMA2 AR NM_000426 exon23 c.429615-34_429615-33delTG 0.170128 0.4067 0.075620 0.1303 0.3907 Uncertain 6_129634255_G->A 6 129634255 129634255 G A snp 1526.77 0/1 99 113 52 61 0.54 intronic rs3798663 LAMA2 AR NM_000426 exon23 c.429852+13G>A 0.355232 0.5288 0.227741 0.2190 0.5527 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000078761.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 6_129722389_A->G 6 129722389 129722389 A G snp 2796.77 0/1 99 246 124 122 0.5 exonic rs3749877 LAMA2 AR synonymous SNV NM_000426 exon38 c.A5466G p.E1822E 0.544529 0.5516 0.516070 0.4978 0.5674 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_multiple_submitters\x2c_no_conflicts;CLNACC=RCV000078777.4;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 6_129722425_G->A 6 129722425 129722425 G A snp 3123.77 0/1 99 250 124 126 0.5 exonic rs3749878 LAMA2 AR synonymous SNV NM_000426 exon38 c.G5502A p.E1834E 0.543331 0.5466 0.514993 0.4963 0.5662 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_multiple_submitters\x2c_no_conflicts;CLNACC=RCV000078778.4;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 6_129722634_A->G 6 129722634 129722634 A G snp 39.77 0/1 68 4 2 2 0.5 intronic rs3749879 LAMA2 AR NM_000426 exon38 c.518095+149A>G 0.54393 0.5496 Uncertain 6_129723805_T->C 6 129723805 129723805 T C snp 150.77 0/1 99 10 5 5 0.5 intronic rs3749880 LAMA2 AR NM_000426 exon39 c.519242+173T>C 0.542532 0.5496 Uncertain 6_129724894_A->G 6 129724894 129724894 A G snp 1649.77 0/1 99 161 91 70 0.43 intronic rs2326817 LAMA2 AR NM_000426 exon40 c.520575-71A>G 0.542532 0.5437 Uncertain 6_129724942_T->A 6 129724942 129724942 T A snp 2276.77 0/1 99 245 141 104 0.42 intronic rs3828735 LAMA2 AR NM_000426 exon40 c.520575-23T>A 0.539936 0.5437 0.216362 0.4879 0.5578 Uncertain 6_129724944_C->T 6 129724944 129724944 C T snp 2244.77 0/1 99 247 145 102 0.41 intronic rs80125253 LAMA2 AR NM_000426 exon40 c.520575-21C>T 0.540735 0.5437 0.000846 0.4880 0.5577 Uncertain 6_129724945_T->G 6 129724945 129724945 T G snp 2283.77 0/1 99 248 145 103 0.42 intronic rs76902576 LAMA2 AR NM_000426 exon40 c.520575-20T>G 0.540735 0.5437 0.006843 0.4879 0.5580 Uncertain 6_129762112_G->A 6 129762112 129762112 G A snp 1174.77 0/1 99 126 75 51 0.4 exonic rs2297738 LAMA2 AR synonymous SNV NM_000426 exon43 c.G6237A p.T2079T 0.182508 0.2202 0.139013 0.1683 0.2160 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_multiple_submitters\x2c_no_conflicts;CLNACC=RCV000078786.4;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 6_129763197_C->T 6 129763197 129763197 C T snp 106.77 0/1 99 15 9 6 0.4 intronic rs7738519 LAMA2 AR NM_000426 exon44 c.558976-169C>T 0.675919 0.5883 Uncertain 6_129775470_T->C 6 129775470 129775470 T C snp 796.77 0/1 99 69 37 32 0.46 intronic rs2297742 LAMA2 AR NM_000426 exon47 c.571043+37T>C 0.172324 0.2282 0.120944 0.1660 0.2509 Uncertain 6_129777382_C->T 6 129777382 129777382 C T snp 221.77 0/1 99 20 10 10 0.5 intronic rs1811970 LAMA2 AR NM_000426 exon48 c.573089-97C>T 0.630391 0.6032 Uncertain 6_129785282_G->A 6 129785282 129785282 G A snp 80.77 0/1 61 5 2 3 0.6 intronic rs2297741 LAMA2 AR NM_000426 exon50 c.581044-152G>A 0.203474 0.2302 Uncertain 6_129785391_T->C 6 129785391 129785391 T C snp 589.77 0/1 99 49 21 28 0.57 intronic rs1414736 LAMA2 AR NM_000426 exon50 c.581044-43T>C 0.660942 0.5516 0.653391 0.6110 0.5475 Uncertain 6_129802716_A->T 6 129802716 129802716 A T snp 216.84 1/1 18 6 0 6 1.0 intronic rs2571581 LAMA2 AR NM_000426 exon55 c.598194+132A>T 0.386981 0.3075 Uncertain 6_129802744_A->G 6 129802744 129802744 A G snp 99.28 1/1 9 3 0 3 1.0 intronic rs2571582 LAMA2 AR NM_000426 exon55 c.598194+160A>G 0.386981 0.3065 Uncertain 6_129807714_G->A 6 129807714 129807714 G A snp 5143.77 1/1 99 182 2 180 0.99 exonic rs2229850 LAMA2 AR synonymous SNV NM_000426 exon56 c.G7845A p.P2615P 0.403754 0.3631 0.342227 0.3080 0.3912 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_multiple_submitters\x2c_no_conflicts;CLNACC=RCV000078801.4;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 6_129813346_C->T 6 129813346 129813346 C T snp 143.77 0/1 99 15 9 6 0.4 intronic rs1889891 LAMA2 AR NM_000426 exon58 c.609069-113C>T 0.398762 0.3502 Uncertain 6_129823611_T->C 6 129823611 129823611 T C snp 56.74 1/1 6 2 0 2 1.0 intronic rs7774592 LAMA2 AR NM_000426 exon59 c.619413-192T>C 0.649361 0.6964 Uncertain 6_129823645_A->G 6 129823645 129823645 A G snp 152.77 0/1 99 11 6 5 0.45 intronic rs7754167 LAMA2 AR NM_000426 exon59 c.619413-158A>G 0.713458 0.6954 Uncertain 6_129835814_G->A 6 129835814 129835814 G A snp 48.77 0/1 77 7 4 3 0.43 intronic rs2297740 LAMA2 AR NM_000426 exon64 c.631350+74G>A 0.706669 0.7272 Uncertain 6_129837549_A->C 6 129837549 129837549 A C snp 1511.77 0/1 99 99 38 61 0.62 UTR3 rs1049473 LAMA2 AR 0.0509185 0.1577 Uncertain 6_129837610_T->C 6 129837610 129837610 T C snp 157.77 0/1 99 30 22 8 0.27 UTR3 rs1049476 LAMA2 AR 0.21246 0.0347 Uncertain 6_129927014_A->G 6 129927014 129927014 A G snp 1835.77 0/1 99 151 69 82 0.54 intronic rs3813366 ARHGAP18 AU NM_033515 exon6 c.27364-7A>G 0.503994 0.4514 0.497001 0.4315 0.4757 Uncertain 6_129932894_T->C 6 129932894 129932894 T C snp 337.77 0/1 99 18 8 10 0.56 intronic rs7753754 ARHGAP18 AU NM_033515 exon8 c.33098+139T>C 0.413538 0.2897 Uncertain 6_129955117_A->C 6 129955117 129955117 A C snp 235.77 0/1 99 26 15 11 0.42 intronic rs9375645 ARHGAP18 AU NM_033515 exon12 c.55529-69A>C 0.407348 0.2569 Uncertain 6_129955151_-->A 6 129955151 129955151 - A indel 213.73 0/1 99 37 19 18 0.49 intronic rs113829468 ARHGAP18 AU NM_033515 exon12 c.55529-35insA 0.0391374 0.4127 0.3620 Uncertain 6_129955327_T->C 6 129955327 129955327 T C snp 459.77 0/1 99 54 33 21 0.39 intronic rs12664247 ARHGAP18 AU NM_033515 exon12 c.55593+77T>C 0.224641 0.1815 Uncertain 6_130031215_T->C 6 130031215 130031215 T C snp 1803.77 1/1 99 67 0 67 1.0 exonic rs3752536 ARHGAP18 AU nonsynonymous SNV NM_033515 exon1 c.A67G p.T23A 0.8127 0.7123 0.842688 0.8476 0.7316 0.000 P -1.043 T 0.0 T 0.0 T Pathogenic 6_130154693_ACAA->- 6 130154693 130154696 ACAA - indel 4983.73 0/1 99 175 72 103 0.59 exonic rs748693435 TMEM244 AU frameshift deletion NM_001010876 exon4 c.228_231del p.V76fs 0.0001 0.0013 Pathogenic 6_130164856_C->T 6 130164856 130164856 C T snp 1464.77 1/1 99 46 0 46 1.0 intronic rs9402185 TMEM244 AU NM_001010876 exon3 c.12285+108C>T 0.996006 1 Uncertain 6_130370404_-->CT 6 130370404 130370404 - CT indel 6257.73 1/1 99 126 0 126 1.0 intronic rs201817568 L3MBTL3 AU NM_032438 exon4 c.6582-22insCT 0.505391 0.7599 0.520208 0.6272 0.7614 Uncertain 6_130370732_TG->- 6 130370732 130370733 TG - indel 2340.73 1/1 99 46 0 46 1.0 intronic rs10550037 L3MBTL3 AU NM_032438 exon5 c.7056-168_7056-167delTG Uncertain 6_130371055_C->T 6 130371055 130371055 C T snp 827.77 1/1 60 27 0 27 1.0 intronic rs3890746 L3MBTL3 AU NM_032438 exon5 c.7131+80C>T 0.472843 0.7599 Uncertain 6_130374102_C->A 6 130374102 130374102 C A snp 5099.77 1/1 99 177 0 177 1.0 exonic rs9388768 L3MBTL3 AU nonsynonymous SNV NM_001007102 exon6 c.C473A p.T158N 0.503994 0.7599 0.522067 0.6266 0.7618 0.3 T 0.000 P -1.080 T 0.0 T 0.001 T Pathogenic 6_130378833_T->C 6 130378833 130378833 T C snp 46.74 1/1 6 2 0 2 1.0 intronic rs12661188 L3MBTL3 AU NM_032438 exon9 c.14798+191T>C 0.642372 0.8522 Uncertain 6_130381246_T->C 6 130381246 130381246 T C snp 4723.77 1/1 99 181 2 179 0.99 exonic rs7451021 L3MBTL3 AU synonymous SNV NM_001007102 exon9 c.T750C p.P250P 0.643171 0.8522 0.637783 0.6849 0.8517 Uncertain 6_130387773_T->C 6 130387773 130387773 T C snp 50.74 1/1 6 2 0 2 1.0 intronic rs9402214 L3MBTL3 AU NM_032438 exon11 c.23789+140T>C 0.547324 0.7609 Uncertain 6_130425540_-->T 6 130425540 130425540 - T indel 230.73 0/1 99 35 20 15 0.43 intronic rs376203297 L3MBTL3 AU NM_032438 exon19 c.61726-30insT 0.0088 0.0369 Uncertain 6_130441910_C->G 6 130441910 130441910 C G snp 206.78 0/1 24 10 2 8 0.8 intronic rs139049790 L3MBTL3 AU NM_032438 exon20 c.78179-113C>G 0.00439297 0.0208 Uncertain 6_130466413_G->A 6 130466413 130466413 G A snp 104.28 1/1 9 5 0 5 1.0 intronic rs4897369 SAMD3 AU NM_001277185 exon2 c.820-71G>A 0.965256 1 Uncertain 6_130466676_A->G 6 130466676 130466676 A G snp 185.77 0/1 99 16 9 7 0.44 intronic rs4897370 SAMD3 AU NM_001277185 exon2 c.903+109A>G 0.284345 0.5069 Uncertain 6_130483222_G->A 6 130483222 130483222 G A snp 599.77 1/1 45 21 0 21 1.0 intronic rs9321214 SAMD3 AU NM_001277185 exon4 c.10506+7052G>A 0.813498 0.9435 Uncertain 6_130504482_A->- 6 130504482 130504482 A - indel 108.8 1/1 18 6 0 6 1.0 intronic rs370056383 SAMD3 AU NM_001277185 exon6 c.39583-765delA 0.4242 0.4521 Uncertain 6_130761798_T->C 6 130761798 130761798 T C snp 2247.77 0/1 99 240 144 96 0.4 exonic rs3813360 TMEM200A AU synonymous SNV NM_001258276 exon2 c.T231C p.A77A 0.301917 0.3423 0.240351 0.2231 0.3532 Uncertain 6_130761957_A->G 6 130761957 130761957 A G snp 2532.77 0/1 99 242 135 107 0.44 exonic rs3813359 TMEM200A AU synonymous SNV NM_001258276 exon2 c.A390G p.P130P 0.278754 0.3413 0.212902 0.2003 0.3526 Uncertain 6_131148541_A->G 6 131148541 131148541 A G snp 4186.77 1/1 99 154 0 154 1.0 upstream rs4895897 SMLR1 AU 0.853235 0.999 0.7836 0.9950 Uncertain 6_131156226_C->T 6 131156226 131156226 C T snp 916.77 0/1 99 64 28 36 0.56 UTR3 rs942 SMLR1 AU 0.17512 0.0516 Uncertain 6_131186578_T->G 6 131186578 131186578 T G snp 2011.77 0/1 99 130 56 74 0.57 intronic rs7775013 EPB41L2 AU NM_001252660 exon4 c.7400-97T>G 0.328075 0.4643 Uncertain 6_131197990_T->C 6 131197990 131197990 T C snp 359.78 1/1 27 12 0 12 1.0 intronic rs7741462 EPB41L2 AU NM_001431 exon7 c.19968-1253T>C 0.861222 0.999 Uncertain 6_131211617_A->- 6 131211617 131211617 A - indel 234.75 1/1 23 17 1 16 0.94 intronic rs140909070 EPB41L2 AU NM_001252660 exon7 c.32331+11delA 0.319089 0.4554 0.4298 0.4878 Uncertain 6_131220539_A->G 6 131220539 131220539 A G snp 248.77 0/1 99 24 14 10 0.42 intronic rs2275064 EPB41L2 AU NM_001252660 exon10 c.41355-91A>G 0.0601038 0.249 Uncertain 6_131276467_A->- 6 131276467 131276467 A - indel 709.73 0/1 99 57 16 41 0.72 intronic rs34763200 EPB41L2 AU NM_001252660 exon15 c.97182+10delA 0.614217 0.9335 0.433147 0.4581 0.9161 Uncertain 6_131276473_A->G 6 131276473 131276473 A G snp 670.77 0/1 99 42 19 23 0.55 intronic rs45550834 EPB41L2 AU NM_001252660 exon15 c.97182+16A>G 0.614217 0.9335 0.4541 0.9156 Uncertain 6_131276530_T->C 6 131276530 131276530 T C snp 143.77 0/1 99 9 4 5 0.56 intronic rs45577234 EPB41L2 AU NM_001252660 exon15 c.97182+73T>C 0.0605032 0.251 Uncertain 6_131481395_A->- 6 131481395 131481395 A - indel 302.75 1/1 24 9 0 9 1.0 intronic rs397726244 AKAP7 AU NM_016377 exon3 c.24435+57delA 0.858626 0.9444 Uncertain 6_131490472_T->C 6 131490472 131490472 T C snp 1140.77 0/1 99 105 56 49 0.47 intronic rs1408027 AKAP7 AU NM_016377 exon5 c.33510+59T>C 0.53754 0.7609 Uncertain 6_131904704_-->A 6 131904704 131904704 - A indel 475.73 1/1 39 13 0 13 1.0 intronic rs397748921 ARG1 AR NM_000045 exon7 c.10209+73insA 0.979233 0.999 Uncertain 6_131911655_A->T 6 131911655 131911655 A T snp 152.77 0/1 99 11 5 6 0.55 intronic rs2608955 MED23 AR NM_001270521 exon4 c.16150+73A>T 0.405351 0.3065 Uncertain 6_131917379_A->G 6 131917379 131917379 A G snp 149.77 0/1 99 13 7 6 0.46 intronic rs2608985 MED23 AR NM_001270521 exon9 c.21871+76A>G 0.204073 0.2956 Uncertain 6_131926334_C->T 6 131926334 131926334 C T snp 672.77 0/1 99 99 66 33 0.33 intronic rs2608953 MED23 AR NM_001270521 exon17 c.30947-45C>T 0.178315 0.2956 0.118407 0.1897 0.3358 Uncertain 6_131929309_-->C 6 131929309 131929309 - C indel 270.73 0/1 99 21 10 11 0.52 intronic rs71753454 MED23 AR NM_001270521 exon19 c.33779+98insC 0.460663 0.4752 Uncertain 6_131931092_T->C 6 131931092 131931092 T C snp 633.77 0/1 99 32 13 19 0.59 intronic rs2245133 MED23 AR NM_001270521 exon20 c.35753-93T>C 0.204473 0.2966 Uncertain 6_131936325_TTT->- 6 131936325 131936327 TTT - indel 568.73 0/1 99 16 5 11 0.69 intronic rs139719926 MED23 AR NM_015979 exon21 c.41031-138_41031-136delTTT 0.181709 0.2956 Uncertain 6_131940890_A->C 6 131940890 131940890 A C snp 111.77 0/1 99 10 5 5 0.5 intronic rs2297638 MED23 AR NM_001270521 exon23 c.45534-76A>C 0.40595 0.3075 Uncertain 6_131948470_A->- 6 131948470 131948470 A - indel 272.73 0/1 99 49 23 26 0.53 intronic rs60163644 MED23 AR NM_001270521 exon28 c.53103-65delA Uncertain 6_131948816_-->AA 6 131948816 131948816 - AA indel 424.73 0/1 99 80 33 47 0.59 splicing rs369598986 MED23 AR NM_001270521 exon29 c.53380+4insAA 0.0748802 0.0625 0.1687 0.1869 Pathogenic 6_131958485_A->C 6 131958485 131958485 A C snp 6565.77 1/1 99 250 0 250 1.0 UTR5 rs9375819 ENPP3 AU 0.898962 0.997 0.811395 0.8102 0.9980 Uncertain 6_131973932_C->G 6 131973932 131973932 C G snp 1789.77 0/1 99 132 61 71 0.54 intronic rs3765562 ENPP3 AU NM_005021 exon5 c.15446-38C>G 0.266773 0.3065 0.199600 0.2193 0.3428 Uncertain 6_131997798_A->C 6 131997798 131997798 A C snp 374.77 0/1 99 19 8 11 0.58 intronic rs2286453 ENPP3 AU NM_005021 exon10 c.39351-77A>C 0.390176 0.3353 Uncertain 6_132022005_T->C 6 132022005 132022005 T C snp 136.77 0/1 99 250 200 50 0.2 exonic rs568702637 OR2A4 AU synonymous SNV NM_030908 exon1 c.A537G p.E179E 0.00299521 0.0109 0.0034 0.0404 Uncertain 6_132043349_A->T 6 132043349 132043349 A T snp 4261.77 1/1 99 152 0 152 1.0 intronic rs378697 ENPP3 AU NM_005021 exon18 c.84842-17A>T 0.979034 1 0.950561 0.9555 1 Uncertain 6_132113403_T->C 6 132113403 132113403 T C snp 2892.77 0/1 99 240 116 124 0.52 downstream rs9493099 MIR548H5 AU 0.359425 0.503 0.4167 . Uncertain 6_132270729_A->- 6 132270729 132270729 A - indel 714.73 1/1 70 35 1 34 0.97 intronic rs398002851 CTGF AU NM_001901 exon1 c.297+29delA 0.666334 0.753 0.6463 0.7463 Uncertain 6_132271952_G->C 6 132271952 132271952 G C snp 2926.77 1/1 99 115 0 115 1.0 exonic rs7451102 CTGF AU nonsynonymous SNV NM_001901 exon2 c.C247G p.H83D 0.9998 1 1 1 1 T 0.018 P -1.006 T 0.0 T 0.0 T Pathogenic 6_132271959_T->G 6 132271959 132271959 T G snp 2884.77 1/1 99 113 0 113 1.0 exonic rs12206231 CTGF AU synonymous SNV NM_001901 exon2 c.A240C p.L80L 1 1 1 1 Uncertain 6_132271980_T->G 6 132271980 132271980 T G snp 2690.77 1/1 99 107 0 107 1.0 exonic rs6934749 CTGF AU synonymous SNV NM_001901 exon2 c.A219C p.P73P 1 1 1 1 Uncertain 6_132641675_T->C 6 132641675 132641675 T C snp 135.03 1/1 12 4 0 4 1.0 intronic rs599660 MOXD1 AU NM_015529 exon4 c.23476-92T>C 0.625998 0.6885 Uncertain 6_132641949_G->A 6 132641949 132641949 G A snp 1127.77 1/1 81 45 1 44 0.98 intronic rs9493286 MOXD1 AU NM_015529 exon4 c.23536+122G>A 0.148762 0.3383 Uncertain 6_132644035_G->A 6 132644035 132644035 G A snp 3527.77 1/1 99 119 0 119 1.0 intronic rs604196 MOXD1 AU NM_015529 exon5 c.25718+26G>A 0.609425 0.6637 0.505691 0.4745 0.6884 Uncertain 6_132785224_A->C 6 132785224 132785224 A C snp 2260.77 0/1 99 237 130 107 0.45 intronic rs3757299 STX7 AU NM_003569 exon2 c.3318+10A>C 0.207468 0.1538 0.218207 0.2144 0.1468 Uncertain 6_132789363_A->G 6 132789363 132789363 A G snp 398.77 0/1 99 29 16 13 0.45 intronic rs3765577 STX7 AU NM_003569 exon3 c.7645-178A>G 0.326877 0.5456 Uncertain 6_132859609_T->A 6 132859609 132859609 T A snp 6158.77 1/1 99 217 2 215 0.99 exonic rs2842899 TAAR9 AU unknown 0.805711 0.8849 0.761426 0.7533 0.8949 ID=CM034133;DIS=TRAR3 null allele;TAG=FP;PUB=14559210 FP Uncertain 6_132860522_C->G 6 132860522 132860522 C G snp 975.77 1/1 72 36 0 36 1.0 downstream rs2842898 TAAR9 AU 0.805711 0.8849 0.758755 0.7684 0.8986 Uncertain 6_132860543_C->T 6 132860543 132860543 C T snp 504.77 0/1 99 27 8 19 0.7 downstream rs17061384 TAAR9 AU 0.280551 0.6419 Uncertain 6_132929904_C->T 6 132929904 132929904 C T snp 1983.77 0/1 99 191 114 77 0.4 ncRNA_exonic rs3813352 TAAR3 AU 0.515775 0.5 0.4302 0.4470 Uncertain 6_132929911_A->G 6 132929911 132929911 A G snp 2082.77 0/1 99 192 112 80 0.42 ncRNA_exonic rs3813351 TAAR3 AU 0.427915 0.4266 0.3786 0.4254 Uncertain 6_132938842_C->T 6 132938842 132938842 C T snp 1451.77 0/1 99 151 87 64 0.42 exonic rs8192646 TAAR2 AU stopgain NM_001033080 exon2 c.G503A p.W168X 0.0587061 0.1895 0.019222 0.0364 0.1930 1 T 1.0 P ID=CM134279;DIS=Autism spectrum disorder;TAG=DM?;PUB=23352160 DM? Pathogenic 6_132966279_T->C 6 132966279 132966279 T C snp 2196.77 0/1 99 178 87 91 0.51 exonic rs8192620 TAAR1 AU synonymous SNV NM_138327 exon1 c.A864G p.V288V 0.210264 0.3185 0.192893 0.2234 0.3435 Uncertain 6_133015271_T->C 6 133015271 133015271 T C snp 1136.77 0/1 99 113 63 50 0.44 exonic rs2272996 VNN1 AU nonsynonymous SNV NM_004666 exon3 c.A392G p.N131S 0.265974 0.3621 0.242965 0.2724 0.3947 0.13 T 0.972 P 0.357 D 0.996 D 0.976 D ID=CM078800;DIS=Hypertension, association with;TAG=DP;PUB=18043751 DP Pathogenic 6_133032759_A->G 6 133032759 133032759 A G snp 149.77 0/1 99 12 7 5 0.42 intronic rs3798792 VNN1 AU NM_004666 exon6 c.28569-88A>G 0.564497 0.4742 Uncertain 6_133035098_G->A 6 133035098 133035098 G A snp 1218.77 0/1 99 83 32 51 0.61 exonic rs2294757 VNN1 AU nonsynonymous SNV NM_004666 exon1 c.C77T p.T26I 0.573682 0.3819 0.520529 0.4478 0.3841 1 T 0.0 P -1.032 T 0.0 T 0.0 T Pathogenic 6_133045812_G->A 6 133045812 133045812 G A snp 2685.77 0/1 99 209 98 111 0.53 exonic rs2294758 VNN3 AU nonsynonymous SNV NM_001291702 exon5 c.C362T p.T121I 0.30651 0.2262 0.316707 0.3682 0.2728 0.15 T 0.0 P -0.963 T 0.001 T 0.003 T Pathogenic 6_133045902_A->G 6 133045902 133045902 A G snp 3293.77 0/1 99 249 117 132 0.53 exonic rs2294759 VNN3 AU nonsynonymous SNV NM_001291702 exon5 c.T272C p.F91S 0.269369 0.2232 0.273631 0.3168 0.2304 0.42 T 1.0 P 0.245 D 1.0 D 0.979 D Pathogenic 6_133048213_G->A 6 133048213 133048213 G A snp 136.77 0/1 99 16 11 5 0.31 intronic rs9493417 VNN3 AU NM_001291702 exon4 c.4087+62G>A 0.631589 0.3889 Uncertain 6_133052384_C->T 6 133052384 133052384 C T snp 50.74 1/1 6 2 0 2 1.0 intronic rs6924414 VNN3 AU NM_001291702 exon5 c.6054+2266C>T 0.627596 0.3879 Uncertain 6_133052616_C->T 6 133052616 133052616 C T snp 2138.77 0/1 99 227 127 100 0.44 intronic rs4895943 VNN3 AU NM_001291702 exon5 c.6054+2498C>T 0.627596 0.3879 0.651469 0.5773 0.3941 0.25 T 0.0 P -1.040 T 0.0 T 0.0 T Uncertain 6_133055610_G->T 6 133055610 133055610 G T snp 2757.77 0/1 99 247 133 114 0.46 intronic rs764262 VNN3 AU NM_001291702 exon7 c.11554-8G>T 0.564696 0.256 0.602260 0.5241 0.2595 Uncertain 6_133055612_G->C 6 133055612 133055612 G C snp 2705.77 0/1 99 242 131 111 0.46 intronic rs764263 VNN3 AU NM_001291702 exon7 c.11554-6G>C 0.236422 0.2252 0.245810 0.2927 0.2278 Uncertain 6_133070995_G->T 6 133070995 133070995 G T snp 6117.77 1/1 99 223 0 223 1.0 exonic rs4895944 VNN2 AU nonsynonymous SNV NM_001242350 exon4 c.C547A p.L183M 1 1 0.999462 0.9997 1 0.11 T 0.0 P -0.733 T 0.038 T 0.079 T Pathogenic 6_133072650_A->G 6 133072650 133072650 A G snp 1103.77 0/1 99 112 65 47 0.42 exonic rs1883617 VNN2 AU synonymous SNV NM_004665 exon5 c.T834C p.G278G 0.315096 0.2272 0.311420 0.3435 0.2252 Uncertain 6_133074645_A->G 6 133074645 133074645 A G snp 1443.77 0/1 99 90 33 57 0.63 intronic rs9493425 VNN2 AU NM_004665 exon4 c.8450+757A>G 0.372204 0.2351 0.3508 0.2121 Uncertain 6_133074663_T->C 6 133074663 133074663 T C snp 1111.77 0/1 99 67 23 44 0.66 intronic rs9493426 VNN2 AU NM_004665 exon4 c.8450+775T>C 0.645767 0.3869 0.5755 0.3258 Uncertain 6_133077063_T->C 6 133077063 133077063 T C snp 1498.77 0/1 99 146 76 70 0.48 exonic rs1883613 VNN2 AU synonymous SNV NM_001242350 exon3 c.A456G p.T152T 0.315895 0.2351 0.329310 0.3383 0.2321 Uncertain 6_133079136_A->T 6 133079136 133079136 A T snp 361.77 0/1 99 23 12 11 0.48 UTR5 rs3901670 VNN2 AU 0.646366 0.3889 Uncertain 6_133079181_T->C 6 133079181 133079181 T C snp 54.74 1/1 6 2 0 2 1.0 intronic rs9389031 VNN2 AU NM_004665 exon7 c.13709+34T>C Uncertain 6_133135807_C->T 6 133135807 133135807 C T snp 2060.77 0/1 99 191 98 93 0.49 intronic rs9493450 RPS12 AU 0.548722 0.3125 Uncertain 6_133135864_T->G 6 133135864 133135864 T G snp 3009.77 0/1 99 249 119 130 0.52 intronic rs12202302 RPS12 AU 0.339457 0.2282 0.324235 0.3387 0.2453 Uncertain 6_133135886_A->G 6 133135886 133135886 A G snp 2849.77 0/1 99 244 118 126 0.52 UTR5 rs9483504 RPS12 AU 0.549321 0.3135 0.532754 0.4872 0.3073 Uncertain 6_133136041_C->G 6 133136041 133136041 C G snp 279.77 0/1 99 25 15 10 0.4 intronic rs9493451 RPS12 AU NM_001016 exon3 c.203-69C>G 0.365415 0.2282 Uncertain 6_133137111_C->T 6 133137111 133137111 C T snp 34.77 0/1 63 12 8 4 0.33 intronic rs3778174 RPS12 AU NM_001016 exon4 c.1692-488C>T 0.365415 0.2282 0.3964 0.2615 Uncertain 6_133138010_T->C 6 133138010 133138010 T C snp 2192.77 0/1 99 175 83 92 0.53 ncRNA_exonic rs9389034 SNORD100 AU 0.448283 0.2837 0.433031 0.4197 0.2873 Uncertain 6_133138068_TT->- 6 133138068 133138069 TT - indel 1565.73 ./1 99 78 0 78 1.0 intronic rs34924584 RPS12 AU NM_001016 exon5 c.2191-30_2191-29delTT 0.430312 0.253 0.3905 0.2755 Uncertain 6_133138068_T->- 6 133138068 133138068 T - indel 1565.73 ./1 99 78 0 78 1.0 intronic rs537403247 RPS12 AU NM_001016 exon5 c.2191-30delT 0.0710863 0.122 0.0998 0.1824 Uncertain 6_133138249_T->C 6 133138249 133138249 T C snp 71.77 0/1 99 9 6 3 0.33 intronic rs2236381 RPS12 AU NM_001016 exon5 c.2293+49T>C 0.41893 0.2847 0.407846 0.4138 0.2966 Uncertain 6_133703325_A->G 6 133703325 133703325 A G snp 106.77 0/1 99 14 8 6 0.43 intronic rs2235485 EYA4 AU,AD NM_172103 exon3 c.107611-204A>G 0.161741 0.2837 Uncertain 6_133782375_T->A 6 133782375 133782375 T A snp 1521.77 0/1 99 149 88 61 0.41 intronic rs3756873 EYA4 AU,AD NM_172103 exon6 c.186400+57T>A 0.201278 0.2986 0.137757 Uncertain 6_133789728_G->A 6 133789728 133789728 G A snp 4931.77 1/1 99 165 0 165 1.0 exonic rs9493627 EYA4 AU,AD nonsynonymous SNV NM_004100 exon11 c.G829A p.G277S 0.409545 0.3442 0.382977 0.3417 0.3561 0.42 T 1.000 P -0.202 T 0.969 D 0.868 D CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_multiple_submitters\x2c_no_conflicts;CLNACC=RCV000037882.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 6_133827148_T->C 6 133827148 133827148 T C snp 647.77 1/1 48 24 0 24 1.0 ncRNA_intronic rs6929656 TARID AU 0.971246 1 Uncertain 6_133827354_A->G 6 133827354 133827354 A G snp 981.77 1/1 72 34 0 34 1.0 ncRNA_exonic rs2277083 TARID AU 0.722244 0.8194 0.609692 0.6335 0.7983 Uncertain 6_133836330_C->T 6 133836330 133836330 C T snp 705.77 0/1 99 57 28 29 0.51 ncRNA_intronic rs3777887 TARID AU 0.230232 0.1319 Uncertain 6_133844137_C->A 6 133844137 133844137 C A snp 179.77 0/1 99 22 15 7 0.32 ncRNA_intronic rs41286206 TARID AU 0.154752 0.131 Uncertain 6_133849789_A->G 6 133849789 133849789 A G snp 2917.77 1/1 99 100 0 100 1.0 ncRNA_intronic rs3822939 TARID AU 0.770367 0.8194 Uncertain 6_133849966_C->T 6 133849966 133849966 C T snp 874.77 0/1 99 55 23 32 0.58 ncRNA_intronic rs3734279 TARID AU 0.471046 0.6855 0.332693 0.4343 0.6499 Uncertain 6_133852127_A->T 6 133852127 133852127 A T snp 42.78 0/1 27 3 1 2 0.67 ncRNA_intronic rs17053542 TARID AU 0.201677 0.1319 Uncertain 6_134494548_C->T 6 134494548 134494548 C T snp 3704.77 1/1 99 121 0 121 1.0 intronic rs1743965 SGK1 AU NM_001143678 exon9 c.3194-51C>T 0.996805 1 0.992136 Uncertain 6_134536276_T->C 6 134536276 134536276 T C snp 101.77 0/1 99 9 5 4 0.44 intronic rs72972260 SGK1 AU NM_001143676 exon12 c.37164+7707T>C 0.0005 0 Uncertain 6_135250530_G->A 6 135250530 135250530 G A snp 126.03 1/1 12 4 0 4 1.0 intronic rs2064101 ALDH8A1 AU NM_001193480 exon2 c.10801+177G>A 0.744808 0.7629 Uncertain 6_135260303_T->C 6 135260303 135260303 T C snp 1205.77 1/1 87 42 0 42 1.0 intronic rs7754722 ALDH8A1 AU NM_170771 exon3 c.20851-100T>C 0.723642 0.7579 Uncertain 6_135424179_C->G 6 135424179 135424179 C G snp 882.77 0/1 99 76 39 37 0.49 intergenic rs35959442 HBS1L AU 0.266973 0.2649 0.2406 0.3548 Uncertain 6_135424203_G->T 6 135424203 135424203 G T snp 810.77 0/1 99 66 27 39 0.59 intergenic rs6930223 HBS1L AU 0.601637 0.5923 0.5258 0.625 Uncertain 6_135511108_A->T 6 135511108 135511108 A T snp 562.77 0/1 99 31 12 19 0.61 intronic rs210796 MYB AU NM_001161657 exon4 c.8370+87A>T 0.38738 0.4375 Uncertain 6_135517196_A->G 6 135517196 135517196 A G snp 709.77 0/1 99 57 29 28 0.49 intronic rs56259263 MYB AU NM_001161656 exon9 c.14489+56A>G 0.0197684 0.0496 Uncertain 6_135522939_T->C 6 135522939 135522939 T C snp 594.77 0/1 99 36 15 21 0.58 intronic rs743589 MYB AU NM_001161657 exon12 c.20236+52T>C 0.476438 0.4325 0.457233 0.4212 0.4024 Uncertain 6_135523774_A->G 6 135523774 135523774 A G snp 83.77 0/1 74 8 4 4 0.5 intronic rs7762830 MYB AU NM_001161657 exon13 c.21703-580A>G 0.476438 0.4325 0.5 . 0.37 T 0.0 P -0.975 T Uncertain 6_135524516_A->G 6 135524516 135524516 A G snp 1507.77 0/1 99 116 55 61 0.53 intronic rs9385719 MYB AU NM_001161657 exon13 c.21811+54A>G 0.474441 0.4325 0.4197 0.3972 Uncertain 6_135524520_-->TGG 6 135524520 135524520 - TGG indel 1404.73 0/1 99 110 33 77 0.7 intronic rs113909655 MYB AU NM_001161657 exon13 c.21811+58insTGG 0.46226 0.4236 0.3400 0.3227 Uncertain 6_135524553_C->T 6 135524553 135524553 C T snp 903.77 0/1 99 54 26 28 0.52 intronic rs9402696 MYB AU NM_001161657 exon13 c.21811+91C>T 0.410343 0.4325 Uncertain 6_135639644_C->T 6 135639644 135639644 C T snp 640.77 0/1 99 51 24 27 0.53 intronic rs6914831 AHI1 AR NM_001134830 exon4 c.32874-12C>T 0.594848 0.625 0.583134 0.6286 0.6978 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000081800.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 6_135748200_A->G 6 135748200 135748200 A G snp 222.84 1/1 18 6 0 6 1.0 intronic rs2757639 AHI1 AR NM_001134830 exon10 c.141522-104A>G 0.886182 0.9653 Uncertain 6_135752608_T->C 6 135752608 135752608 T C snp 350.78 1/1 27 11 0 11 1.0 intronic rs2614270 AHI1 AR NM_001134830 exon13 c.145670+156T>C 0.958267 0.9653 Uncertain 6_135754471_C->T 6 135754471 135754471 C T snp 351.78 1/1 27 9 0 9 1.0 intronic rs737561 AHI1 AR NM_001134830 exon14 c.147612+77C>T 0.822684 0.9663 Uncertain 6_135763585_T->C 6 135763585 135763585 T C snp 708.77 1/1 54 21 0 21 1.0 intronic rs2614274 AHI1 AR NM_001134830 exon16 c.156937-134T>C 0.995208 1 Uncertain 6_135763866_G->A 6 135763866 135763866 G A snp 1263.77 1/1 93 39 0 39 1.0 intronic rs2757645 AHI1 AR NM_001134830 exon16 c.157070+14G>A 0.822883 0.9663 0.820276 0.9106 0.9723 Uncertain 6_135813251_G->T 6 135813251 135813251 G T snp 56.74 1/1 6 2 0 2 1.0 intronic rs9402709 AHI1 AR NM_001134830 exon26 c.206583-114G>T 0.717652 0.9048 Uncertain 6_136472185_-->A 6 136472185 136472185 - A indel 450.73 0/1 99 46 27 19 0.41 intronic rs35539959 PDE7B AU NM_018945 exon6 c.299161-112insA 0.524561 0.5496 Uncertain 6_136472439_G->A 6 136472439 136472439 G A snp 1390.77 0/1 99 107 51 56 0.52 intronic rs4896201 PDE7B AU NM_018945 exon6 c.299257+46G>A 0.420128 0.5476 0.372674 0.4393 0.5470 Uncertain 6_136472496_T->G 6 136472496 136472496 T G snp 377.77 0/1 99 24 12 12 0.5 intronic rs4896202 PDE7B AU NM_018945 exon6 c.299257+103T>G 0.524361 0.5476 Uncertain 6_136500049_A->G 6 136500049 136500049 A G snp 590.77 0/1 99 46 25 21 0.46 intronic rs3734547 PDE7B AU NM_018945 exon10 c.326998-85A>G 0.0477236 0.1042 Uncertain 6_136502307_G->A 6 136502307 136502307 G A snp 381.77 0/1 99 25 11 14 0.56 intronic rs2277097 PDE7B AU NM_018945 exon11 c.329228-57G>A 0.0585064 0.0982 Uncertain 6_136502519_C->T 6 136502519 136502519 C T snp 953.77 0/1 99 86 45 41 0.48 intronic rs2277098 PDE7B AU NM_018945 exon11 c.329325+58C>T 0.0615016 0.0982 Uncertain 6_136502627_C->T 6 136502627 136502627 C T snp 77.77 0/1 99 7 4 3 0.43 intronic rs9402793 PDE7B AU NM_018945 exon11 c.329325+166C>T 0.0666933 0.0982 Uncertain 6_136554628_G->A 6 136554628 136554628 G A snp 104.77 0/1 99 18 12 6 0.33 exonic rs2274140 MTFR2 AU synonymous SNV NM_001099286 exon7 c.C879T p.G293G 0.0173722 0.0476 0.000615 0.0142 0.0546 1 D -1.000 T Likely benign 6_136582417_G->A 6 136582417 136582417 G A snp 873.77 0/1 99 103 70 33 0.32 exonic rs62431283 BCLAF1 AU nonsynonymous SNV NM_014739 exon12 c.C2743T p.R915C 0.4925 0.4901 0.04 T 1.000 D -0.997 T 1.0 D 0.997 D Pathogenic 6_136582497_G->T 6 136582497 136582497 G T snp 3036.77 0/1 99 250 137 113 0.45 exonic rs62431284 BCLAF1 AU nonsynonymous SNV NM_014739 exon12 c.C2663A p.T888N 0.4976 0.4993 0.06 T 1.000 D -0.818 T 1.0 D 0.999 D Pathogenic 6_136589448_C->A 6 136589448 136589448 C A snp 205.77 0/1 99 47 35 12 0.26 exonic rs78267720 BCLAF1 AU nonsynonymous SNV NM_014739 exon10 c.G2249T p.R750L 0.2922 0.0801 0.21 T 1 D -1.158 T 0.998 D 0.965 D Pathogenic 6_136590613_T->C 6 136590613 136590613 T C snp 754.77 0/1 99 169 126 43 0.25 exonic rs62431285 BCLAF1 AU synonymous SNV NM_014739 exon9 c.A2181G p.P727P 0.4876 0.4722 1 D -0.898 T Likely benign 6_136590640_A->C 6 136590640 136590640 A C snp 925.77 0/1 99 200 138 62 0.31 exonic rs62431286 BCLAF1 AU nonsynonymous SNV NM_014739 exon9 c.T2154G p.S718R 0.4988 0.4945 0.08 T 1 D -1.053 T 0.997 D 0.986 D Pathogenic 6_136590698_C->T 6 136590698 136590698 C T snp 943.77 0/1 99 194 133 61 0.31 exonic rs62431287 BCLAF1 AU nonsynonymous SNV NM_014739 exon9 c.G2096A p.R699H 0.4978 0.4976 0.07 T 0.996 P -1.074 T 0.993 D 0.829 D Pathogenic 6_136590712_C->T 6 136590712 136590712 C T snp 948.77 0/1 99 190 133 57 0.3 exonic rs62431288 BCLAF1 AU synonymous SNV NM_014739 exon9 c.G2082A p.R694R 0.4992 0.4963 Uncertain 6_136597004_A->G 6 136597004 136597004 A G snp 275.77 0/1 99 143 125 18 0.13 exonic rs7762367 BCLAF1 AU synonymous SNV NM_014739 exon5 c.T1659C p.P553P 0.4978 0.4885 Uncertain 6_136597262_T->C 6 136597262 136597262 T C snp 3135.77 0/1 99 250 132 118 0.47 exonic rs1967444 BCLAF1 AU synonymous SNV NM_014739 exon5 c.A1401G p.V467V 0.4999 0.4997 Uncertain 6_136597281_A->T 6 136597281 136597281 A T snp 3064.77 0/1 99 250 127 123 0.49 exonic rs1967445 BCLAF1 AU nonsynonymous SNV NM_014739 exon5 c.T1382A p.L461H 0.4988 0.4993 0.54 T 1 D -1.000 T 0.99 D 0.723 D Pathogenic 6_136597288_A->C 6 136597288 136597288 A C snp 3074.77 0/1 99 250 131 119 0.48 exonic rs1967446 BCLAF1 AU nonsynonymous SNV NM_014739 exon5 c.T1375G p.Y459D 0.4989 0.4995 0.62 T 1 D -0.952 T 0.886 T 0.439 P Pathogenic 6_136598895_-->A 6 136598895 136598895 - A indel 119.73 0/1 51 7 2 5 0.71 intronic rs397713768 BCLAF1 AU NM_014739 exon10 c.16755-107insA 0.752596 0.7887 Uncertain 6_136599393_G->C 6 136599393 136599393 G C snp 2601.77 0/1 99 250 153 97 0.39 exonic rs6940018 BCLAF1 AU nonsynonymous SNV NM_014739 exon4 c.C626G p.S209C 0.498203 0.5 0.4999 0.4995 0.07 T 1 D -1.182 T 0.998 D 0.896 D Pathogenic 6_136599404_T->C 6 136599404 136599404 T C snp 2690.77 0/1 99 250 151 99 0.4 exonic rs6919254 BCLAF1 AU synonymous SNV NM_014739 exon4 c.A615G p.S205S 0.4987 0.4993 Uncertain 6_136599822_C->G 6 136599822 136599822 C G snp 607.77 0/1 99 85 52 33 0.39 exonic rs9942517 BCLAF1 AU nonsynonymous SNV NM_014739 exon4 c.G197C p.G66A 0.4999 0.4994 0.09 T 1.0 P -0.334 T 0.999 D 0.992 D Pathogenic 6_136599836_G->A 6 136599836 136599836 G A snp 598.77 0/1 99 85 53 32 0.38 exonic rs9942518 BCLAF1 AU synonymous SNV NM_014739 exon4 c.C183T p.Y61Y 0.4978 0.4993 Uncertain 6_136599842_G->A 6 136599842 136599842 G A snp 595.77 0/1 99 85 55 30 0.35 exonic rs9942519 BCLAF1 AU synonymous SNV NM_014739 exon4 c.C177T p.R59R 0.4999 0.4994 Uncertain 6_136681673_A->G 6 136681673 136681673 A G snp 223.77 0/1 99 14 5 9 0.64 intronic rs9389383 MAP7 AU NM_001198616 exon6 c.16469-161A>G 0.0740815 0.1071 Uncertain 6_136682172_G->A 6 136682172 136682172 G A snp 495.77 0/1 99 42 20 22 0.52 exonic rs2076190 MAP7 AU nonsynonymous SNV NM_001198617 exon10 c.C1390T p.R464W 0.771565 0.6736 0.811950 0.8310 0.6941 0.07 T 0.979 P -0.965 T 0.999 D 0.88 D Pathogenic 6_136710478_G->A 6 136710478 136710478 G A snp 37.77 0/1 66 8 6 2 0.25 intronic rs9389386 MAP7 AU NM_001198616 exon14 c.45126-13G>A 0.0740815 0.1062 0.045517 0.0326 0.1056 Uncertain 6_136732664_G->A 6 136732664 136732664 G A snp 814.77 0/1 99 65 28 37 0.57 intronic rs12176346 MAP7 AU NM_001198616 exon15 c.67392-93G>A 0.156749 0.2817 Uncertain 6_136871354_T->C 6 136871354 136871354 T C snp 319.77 0/1 99 19 8 11 0.58 intronic rs138896793 MAP7 AU NM_001198616 exon17 c.206114-125T>C 0.102037 0.1478 Uncertain 6_136871672_A->G 6 136871672 136871672 A G snp 697.77 1/1 51 21 0 21 1.0 UTR5 rs2277099 MAP7 AU 0.285343 0.3859 Uncertain 6_136900947_-->A 6 136900947 136900947 - A indel 551.73 0/1 99 55 29 26 0.47 intronic rs201558467 MAP3K5 AU NM_005923 exon6 c.22543-491insA 0.0401358 0.0774 0.0139 0.1310 Uncertain 6_136913217_T->C 6 136913217 136913217 T C snp 161.77 0/1 94 9 3 6 0.67 intronic rs2076262 MAP3K5 AU NM_005923 exon8 c.34415-93T>C 0.159944 0.2619 Uncertain 6_136914153_T->C 6 136914153 136914153 T C snp 41.77 0/1 70 4 2 2 0.5 intronic rs17723504 MAP3K5 AU NM_005923 exon9 c.34857+401T>C 0.167931 0.2619 Uncertain 6_136922119_A->G 6 136922119 136922119 A G snp 891.77 0/1 99 71 36 35 0.49 intronic rs2277100 MAP3K5 AU NM_005923 exon10 c.43264-40A>G 0.0772764 0.0952 0.055590 0.0393 0.1143 Uncertain 6_136922357_-->T 6 136922357 136922357 - T indel 286.73 0/1 99 46 21 25 0.54 intronic rs11434015 MAP3K5 AU NM_005923 exon10 c.43285+177insT 0.186102 0.3135 Uncertain 6_136958233_G->A 6 136958233 136958233 G A snp 425.77 1/1 33 12 0 12 1.0 ncRNA_exonic rs958293 LOC101928461 AU 0.646166 0.7192 Uncertain 6_136977568_T->C 6 136977568 136977568 T C snp 792.77 0/1 99 59 26 33 0.56 exonic rs2076260 MAP3K5 AU synonymous SNV NM_005923 exon10 c.A1557G p.L519L 0.439097 0.5565 0.334615 0.2729 0.5629 Uncertain 6_136990283_T->C 6 136990283 136990283 T C snp 260.8 1/1 21 7 0 7 1.0 intronic rs3765259 MAP3K5 AU NM_005923 exon23 c.111525-137T>C 0.45028 0.4633 Uncertain 6_137041833_C->T 6 137041833 137041833 C T snp 3784.77 1/1 99 142 3 139 0.98 intronic rs1321477 MAP3K5 AU NM_005923 exon29 c.162832+106C>T 0.33746 0.4296 Uncertain 6_137166682_G->A 6 137166682 137166682 G A snp 2509.77 1/1 99 83 0 83 1.0 intronic rs927181 PEX7 AU,AR NM_000288 exon4 c.22949-70G>A 0.984026 1 Uncertain 6_137325847_C->T 6 137325847 137325847 C T snp 2308.77 1/1 99 82 0 82 1.0 exonic rs1555498 IL20RA AU nonsynonymous SNV NM_014432 exon6 c.G775A p.V259I 0.846645 0.999 0.836921 0.9527 0.9991 0.8 T 0.0 P -1.051 T 0.001 T 0.001 T Pathogenic 6_137325902_AA->- 6 137325902 137325903 AA - indel 431.73 ./1 99 35 2 33 0.94 splicing rs558108824 IL20RA AU NM_001278724 exon2 c.3203+5_3203+6delAA 0.380591 0.5923 0.4664 0.5298 Pathogenic 6_137325902_A->- 6 137325902 137325902 A - indel 431.73 ./1 99 35 2 33 0.94 splicing rs573755819 IL20RA AU NM_001278724 exon2 c.3203+5delA 0.378994 0.2163 0.3871 0.2347 Pathogenic 6_137338276_A->G 6 137338276 137338276 A G snp 4201.77 1/1 99 153 0 153 1.0 intronic rs433243 IL20RA AU NM_001278724 exon5 c.15546+36A>G 0.810104 1 0.792833 0.9396 1 Uncertain 6_137338352_G->T 6 137338352 137338352 G T snp 2104.77 1/1 99 69 0 69 1.0 intronic rs451371 IL20RA AU NM_001278724 exon5 c.15546+112G>T 0.803714 0.999 Uncertain 6_137338357_A->G 6 137338357 137338357 A G snp 1998.77 1/1 99 62 0 62 1.0 intronic rs442663 IL20RA AU NM_001278724 exon5 c.15546+117A>G 0.810304 1 Uncertain 6_137338447_T->A 6 137338447 137338447 T A snp 54.74 1/1 6 2 0 2 1.0 intronic rs365927 IL20RA AU NM_001278724 exon5 c.15546+207T>A 0.810304 1 Uncertain 6_137477823_C->T 6 137477823 137477823 C T snp 1384.77 1/1 99 47 0 47 1.0 intronic rs2064501 IL22RA2 AU NM_052962 exon4 c.11135-72C>T 0.675919 0.7222 Uncertain 6_137519780_T->C 6 137519780 137519780 T C snp 248.77 0/1 99 22 11 11 0.5 splicing rs3799488 IFNGR1 AR,AD,AU NM_000416 exon1 c.609+4T>C 0.121206 0.2619 0.087064 0.1189 0.2620 Pathogenic 6_137524870_-->A 6 137524870 137524870 - A indel 179.73 0/1 99 59 26 33 0.56 intronic rs201076254 IFNGR1 AR,AD,AU NM_000416 exon3 c.5655+48insA 0.279553 0.3919 0.2174 0.3148 Uncertain 6_137539424_AAAAG->- 6 137539424 137539428 AAAAG - indel 1516.73 0/1 99 40 16 24 0.6 intronic rs150776768 IFNGR1 AR,AD,AU NM_000416 exon7 c.21212-955_21212-951delAAAAG 0.221446 0.37 Uncertain 6_137539505_C->G 6 137539505 137539505 C G snp 1827.77 0/1 99 148 74 74 0.5 intronic rs9376269 IFNGR1 AR,AD,AU NM_000416 exon7 c.21212-874C>G 0.321885 0.4742 Uncertain 6_137540335_C->T 6 137540335 137540335 C T snp 1006.77 0/1 99 69 26 43 0.62 intronic rs11754268 IFNGR1 AR,AD,AU NM_000416 exon7 c.21212-44C>T 0.294529 0.4742 0.167937 0.2631 0.3930 Uncertain 6_137540370_A->G 6 137540370 137540370 A G snp 1508.77 0/1 99 103 35 68 0.66 intronic rs7749390 IFNGR1 AR,AD,AU NM_000416 exon7 c.21212-9A>G 0.502396 0.5873 0.428209 0.4834 0.5913 Uncertain 6_137540520_A->G 6 137540520 137540520 A G snp 1040.77 0/1 99 83 38 45 0.54 UTR5 rs2234711 IFNGR1 AR,AD,AU 0.502396 0.5873 0.424442 ID=CR025333;DIS=Malaria, susceptibility, association with;TAG=DFP;PUB=12023780 DFP Uncertain 6_137814509_A->G 6 137814509 137814509 A G snp 816.77 0/1 99 51 18 33 0.65 exonic rs117770313 OLIG3 AU nonsynonymous SNV NM_175747 exon1 c.T799C p.S267P 0.0325479 0.0933 0.000251 0.0247 0.1250 0.01 T 0.926 N 0.714 D 0.165 T 0.135 T Pathogenic 6_138195962_CTC->- 6 138195962 138195964 CTC - indel 785.73 1/1 45 15 0 15 1.0 intronic rs2307859 TNFAIP3 AD NM_001270507 exon3 c.3617-19_3617-17delCTC 0.533946 0.8482 0.482508 0.6105 0.8462 Uncertain 6_138197331_A->C 6 138197331 138197331 A C snp 2734.77 1/1 99 94 0 94 1.0 intronic rs661561 TNFAIP3 AD NM_001270507 exon5 c.4939+28A>C 0.533546 0.8492 0.484007 0.6123 0.8487 Uncertain 6_138413269_A->G 6 138413269 138413269 A G snp 1171.77 0/1 99 128 78 50 0.39 exonic rs648396 PERP AU synonymous SNV NM_022121 exon3 c.T492C p.I164I 0.632188 0.7232 0.545441 0.5907 0.7186 Uncertain 6_138413333_G->C 6 138413333 138413333 G C snp 1795.77 0/1 99 193 113 80 0.41 exonic rs648802 PERP AU nonsynonymous SNV NM_022121 exon3 c.C428G p.P143R 0.63119 0.7222 0.544672 0.5901 0.7175 0.66 T 0.0 P -0.900 T 0.046 T 0.04 T Pathogenic 6_138413543_T->C 6 138413543 138413543 T C snp 553.77 0/1 99 40 17 23 0.57 intronic PERP AU NM_022121 exon1 c.227+138T>C Uncertain 6_138417415_T->C 6 138417415 138417415 T C snp 416.77 0/1 99 27 12 15 0.56 intronic rs2484067 PERP AU NM_022121 exon2 c.4312-75T>C 0.283746 0.0556 Uncertain 6_138491896_A->G 6 138491896 138491896 A G snp 922.77 0/1 99 104 60 44 0.42 intronic rs116143200 ARFGEF3 AU NM_020340 exon2 c.8627+46A>G 0.0449281 0.0159 0.041263 0.0330 0.0201 Uncertain 6_138491996_G->A 6 138491996 138491996 G A snp 101.77 0/1 99 16 12 4 0.25 intronic rs115055274 ARFGEF3 AU NM_020340 exon2 c.8627+146G>A 0.0449281 0.0159 Uncertain 6_138528457_G->A 6 138528457 138528457 G A snp 141.03 1/1 12 4 0 4 1.0 intronic rs6570215 ARFGEF3 AU NM_020340 exon3 c.45037+197G>A 0.291534 0.375 Uncertain 6_138539183_-->G 6 138539183 138539183 - G indel 3355.73 0/1 99 240 131 109 0.45 exonic rs3841283 PBOV1 AU frameshift insertion NM_021635 exon1 c.349dupC p.L117fs 0.15595 0.3581 0.097045 0.1124 0.3602 Pathogenic 6_138539315_A->G 6 138539315 138539315 A G snp 2858.77 0/1 99 239 127 112 0.47 exonic rs6927706 PBOV1 AU nonsynonymous SNV NM_021635 exon1 c.T218C p.I73T 0.15595 0.3581 0.096648 0.1123 0.3609 0 D 0.0 P -0.992 T 0.0 T 0.0 T Pathogenic 6_138539556_T->C 6 138539556 138539556 T C snp 222.77 0/1 99 30 20 10 0.33 UTR5 rs11758517 PBOV1 AU 0.15615 0.3591 0.088481 0.1105 0.3822 Uncertain 6_138559834_G->T 6 138559834 138559834 G T snp 65.77 0/1 94 10 7 3 0.3 intronic rs544881814 ARFGEF3 AU NM_020340 exon6 c.76545+66G>T 0.00119808 0.006 Uncertain 6_138563975_C->T 6 138563975 138563975 C T snp 4081.77 1/1 99 137 0 137 1.0 intronic rs1509682 ARFGEF3 AU NM_020340 exon7 c.80865-113C>T 0.297923 0.376 Uncertain 6_138566893_G->T 6 138566893 138566893 G T snp 726.77 1/1 54 21 0 21 1.0 intronic rs9402966 ARFGEF3 AU NM_020340 exon8 c.83505+165G>T 0.300519 0.371 Uncertain 6_138584685_T->G 6 138584685 138584685 T G snp 3135.77 1/1 99 105 0 105 1.0 exonic rs7764091 ARFGEF3 AU nonsynonymous SNV NM_020340 exon12 c.T2065G p.S689A 0.296925 0.371 0.222410 0.1659 0.3841 1 T 0.0 P -0.999 T 0.0 T 0.0 T Pathogenic 6_138620000_A->G 6 138620000 138620000 A G snp 258.8 1/1 21 7 0 7 1.0 intronic rs2281149 ARFGEF3 AU NM_020340 exon22 c.136699+78A>G 0.221246 0.4623 Uncertain 6_138628599_AAA->- 6 138628599 138628601 AAA - indel 571.73 1/1 36 18 0 18 1.0 intronic rs34359396 ARFGEF3 AU NM_020340 exon23 c.145311+65_145311+67delAAA 0.216653 0.4583 Uncertain 6_138632506_G->T 6 138632506 138632506 G T snp 1701.77 1/1 99 62 0 62 1.0 intronic rs2272890 ARFGEF3 AU NM_020340 exon25 c.149320-37G>T 0.175519 0.4583 0.106570 0.2030 0.5126 Uncertain 6_138632518_G->T 6 138632518 138632518 G T snp 1789.77 1/1 99 61 0 61 1.0 intronic rs2272889 ARFGEF3 AU NM_020340 exon25 c.149320-25G>T 0.175719 0.4583 0.108227 0.2341 0.5437 Uncertain 6_138642083_G->- 6 138642083 138642083 G - indel 260.74 1/1 27 9 0 9 1.0 intronic rs11331667 ARFGEF3 AU NM_020340 exon29 c.159024-164delG 0.853035 0.8085 Uncertain 6_138642084_G->A 6 138642084 138642084 G A snp 343.78 1/1 27 9 0 9 1.0 intronic rs201692149 ARFGEF3 AU NM_020340 exon29 c.159024-163G>A 0.182308 0.4554 Uncertain 6_138753337_C->T 6 138753337 138753337 C T snp 3092.77 1/1 99 109 0 109 1.0 exonic rs2039121 NHSL1 AU synonymous SNV NM_020464 exon5 c.G2157A p.K719K 0.736821 0.9008 0.698861 0.7318 0.9 Uncertain 6_138754323_A->G 6 138754323 138754323 A G snp 5485.77 1/1 99 199 0 199 1.0 exonic rs2327891 NHSL1 AU synonymous SNV NM_020464 exon5 c.T1171C p.L391L 0.873602 0.9286 0.831581 0.8079 0.9244 Uncertain 6_138794628_A->G 6 138794628 138794628 A G snp 474.77 0/1 99 41 22 19 0.46 intronic rs7765573 NHSL1 AU NM_001144060 exon6 c.49353+58A>G 0.259385 0.3175 Uncertain 6_138820271_-->AC 6 138820271 138820271 - AC indel 371.73 0/1 99 29 17 12 0.41 intronic rs370855535 NHSL1 AU NM_001144060 exon8 c.75152-98insAC 0.238618 0.2024 Uncertain 6_138820290_ACACACAG->- 6 138820290 138820297 ACACACAG - indel 1452.73 0/1 99 35 18 17 0.49 intronic rs57483336 NHSL1 AU NM_001144060 exon8 c.75152-79_75152-72delACACACAG Uncertain 6_138820324_A->G 6 138820324 138820324 A G snp 614.77 0/1 99 59 34 25 0.42 intronic rs10457670 NHSL1 AU NM_001144060 exon8 c.75152-45A>G 0.304912 0.378 0.291502 0.3535 0.3648 Uncertain 6_138833685_G->A 6 138833685 138833685 G A snp 50.77 0/1 79 14 8 6 0.43 intronic rs76244005 NHSL1 AU NM_001144060 exon8 c.75362+13106G>A Uncertain 6_139013015_G->A 6 139013015 139013015 G A snp 1149.77 0/1 99 77 31 46 0.6 ncRNA_exonic rs9321669 FLJ46906 AU 0.275359 0.381 0.1628 0.3854 Uncertain 6_139013228_C->- 6 139013228 139013228 C - indel 3791.73 0/1 99 250 131 119 0.48 ncRNA_intronic rs398094617 FLJ46906 AU 0.198882 0.38 0.1457 0.3737 Uncertain 6_139013263_A->C 6 139013263 139013263 A C snp 2830.77 0/1 99 250 129 121 0.48 ncRNA_intronic rs10223712 FLJ46906 AU 0.27516 0.38 0.1587 0.3737 Uncertain 6_139013283_-->C 6 139013283 139013283 - C indel 4386.73 0/1 99 249 125 124 0.5 ncRNA_intronic rs72082963 FLJ46906 AU 0.27496 0.38 0.1587 0.3737 Uncertain 6_139013631_G->A 6 139013631 139013631 G A snp 770.77 0/1 99 67 30 37 0.55 ncRNA_intronic rs117934016 FLJ46906 AU 0.0529153 0.0675 0.5 0.5 Uncertain 6_139013686_G->T 6 139013686 139013686 G T snp 651.77 0/1 99 64 35 29 0.45 ncRNA_intronic rs117648354 FLJ46906 AU 0.184505 0.38 0.2745 . 1.000 P -1.011 T Uncertain 6_139017657_T->C 6 139017657 139017657 T C snp 1141.77 0/1 99 96 53 43 0.45 ncRNA_intronic rs9484199 FLJ46906 AU 0.182308 0.376 Uncertain 6_139017815_A->G 6 139017815 139017815 A G snp 3542.77 1/1 99 128 0 128 1.0 ncRNA_exonic rs9399249 FLJ46906 AU 0.750599 0.9206 0.6936 0.9433 Uncertain 6_139017832_C->T 6 139017832 139017832 C T snp 1003.77 0/1 99 91 51 40 0.44 ncRNA_exonic rs9399250 FLJ46906 AU 0.190895 0.376 0.1907 0.3780 Uncertain 6_139017873_-->T 6 139017873 139017873 - T indel 1914.73 ./1 99 49 0 49 1.0 ncRNA_exonic rs5880395 FLJ46906 AU 0.2865 0.5192 Uncertain 6_139017873_-->C 6 139017873 139017873 - C indel 1914.73 ./1 99 49 0 49 1.0 ncRNA_exonic rs5880395 FLJ46906 AU 0.3469 0.4135 Uncertain 6_139094629_-->GG 6 139094629 139094629 - GG indel 2141.73 0/1 99 135 63 72 0.53 intronic rs111500978 LOC100507462 AU NM_001242740 exon4 c.46048-22insGG 0.1578 0.1628 Uncertain 6_139097232_C->T 6 139097232 139097232 C T snp 1253.77 0/1 99 119 71 48 0.4 exonic rs2273510 CCDC28A AU nonsynonymous SNV NM_015439 exon2 c.C245T p.P82L 0.071885 0.0923 0.058973 0.0354 0.0834 0.01 T 0.0 P -1.032 T 0.004 T 0.001 T Pathogenic 6_139106599_A->C 6 139106599 139106599 A C snp 3233.06 0/1 99 250 119 131 0.52 intronic rs3763185 CCDC28A AU NM_015439 exon4 c.11707+81A>C 0.126797 0.1736 Uncertain 6_139106722_C->A 6 139106722 139106722 C A snp 5681.77 1/1 99 210 0 210 1.0 intronic rs3763186 CCDC28A AU NM_015439 exon4 c.11707+204C>A 0.296126 0.2897 Uncertain 6_139106787_G->A 6 139106787 139106787 G A snp 1769.77 1/1 99 48 0 48 1.0 intronic rs3763187 CCDC28A AU NM_015439 exon4 c.11707+269G>A 0.296126 0.2897 Uncertain 6_139113869_-->TAAC 6 139113869 139113869 - TAAC indel 1023.73 0/1 99 52 34 18 0.35 intronic rs139961983 CCDC28A AU NM_015439 exon6 c.19074-16insTAAC 0.123203 0.1736 0.146293 0.1759 0.2024 Uncertain 6_139114113_A->G 6 139114113 139114113 A G snp 178.9 1/1 15 5 0 5 1.0 UTR3 rs6570282 CCDC28A AU 0.999002 1 Uncertain 6_139144446_T->C 6 139144446 139144446 T C snp 1301.77 0/1 99 178 114 64 0.36 intronic rs201200403 ECT2L AU NM_001195037 exon3 c.1329+8706T>C 0.0796725 0.2014 Uncertain 6_139159382_T->C 6 139159382 139159382 T C snp 204.9 0/1 15 8 1 7 0.88 intronic rs9321680 ECT2L AU NM_001195037 exon4 c.25077-106T>C 0.626797 0.8056 Uncertain 6_139183879_G->A 6 139183879 139183879 G A snp 1604.77 0/1 99 138 72 66 0.48 intronic rs12204850 ECT2L AU NM_001195037 exon10 c.49445+23G>A 0.218251 0.1151 0.266355 0.3008 0.1235 Uncertain 6_139184044_C->G 6 139184044 139184044 C G snp 182.9 1/1 15 5 0 5 1.0 intronic rs1188827 ECT2L AU NM_001195037 exon10 c.49445+188C>G 0.841254 0.6637 Uncertain 6_139186457_C->T 6 139186457 139186457 C T snp 146.77 0/1 99 11 6 5 0.45 intronic rs12198757 ECT2L AU NM_001195037 exon11 c.51904+142C>T 0.20627 0.1151 Uncertain 6_139202014_G->C 6 139202014 139202014 G C snp 639.77 1/1 48 17 0 17 1.0 intronic rs1157050 ECT2L AU NM_001195037 exon14 c.67682-79G>C 0.611422 0.5099 Uncertain 6_139206592_G->C 6 139206592 139206592 G C snp 818.77 0/1 99 68 35 33 0.49 intronic rs17067990 ECT2L AU NM_001195037 exon16 c.72231-50G>C 0.127396 0.2173 0.070479 0.0509 0.1978 Uncertain 6_139206937_A->G 6 139206937 139206937 A G snp 1852.77 0/1 99 134 58 76 0.57 exonic rs17067993 ECT2L AU synonymous SNV NM_001195037 exon17 c.A2229G p.Q743Q 0.127796 0.2183 0.071160 0.0513 0.1981 Uncertain 6_139207910_C->T 6 139207910 139207910 C T snp 40.77 0/1 69 9 6 3 0.33 intronic rs1188831 ECT2L AU NM_001195037 exon18 c.73582-83C>T 0.498003 0.3611 Uncertain 6_139208118_T->G 6 139208118 139208118 T G snp 1214.77 0/1 99 118 62 56 0.47 intronic rs7764840 ECT2L AU NM_001195037 exon18 c.73648+59T>G 0.245807 0.253 0.242006 Uncertain 6_139229695_A->G 6 139229695 139229695 A G snp 330.77 0/1 99 35 21 14 0.4 intronic rs1188867 REPS1 AU NM_001128617 exon3 c.3604-109A>G 0.777556 0.6389 Uncertain 6_139229743_C->T 6 139229743 139229743 C T snp 890.77 0/1 99 84 49 35 0.42 intronic rs1188868 REPS1 AU NM_001128617 exon3 c.3604-61C>T 0.811302 0.6389 Uncertain 6_139232579_C->A 6 139232579 139232579 C A snp 91.77 0/1 99 18 13 5 0.28 intronic rs3765191 REPS1 AU NM_001128617 exon4 c.6308+71C>A 0.245407 0.253 Uncertain 6_139234163_C->T 6 139234163 139234163 C T snp 316.77 0/1 99 19 9 10 0.53 intronic rs1188862 REPS1 AU NM_001128617 exon5 c.7887+76C>T 0.488219 0.3611 Uncertain 6_139238599_G->T 6 139238599 139238599 G T snp 457.77 0/1 99 35 16 19 0.54 intronic rs2272432 REPS1 AU NM_001128617 exon8 c.12491-92G>T 0.123003 0.2192 Uncertain 6_139255524_C->T 6 139255524 139255524 C T snp 1760.77 0/1 99 170 89 81 0.48 intronic rs17068128 REPS1 AU NM_001128617 exon11 c.25035+4289C>T 0.142372 0.2192 Uncertain 6_139264758_G->A 6 139264758 139264758 G A snp 224.77 0/1 99 20 11 9 0.45 intronic rs540246438 REPS1 AU NM_001128617 exon13 c.38513+45G>A 0.000199681 7.846e-05 0.0007 Uncertain 6_139264930_T->G 6 139264930 139264930 T G snp 147.77 0/1 99 9 4 5 0.56 intronic rs6899737 REPS1 AU NM_001128617 exon14 c.38789-59T>G 0.240216 0.2569 Uncertain 6_139265279_C->T 6 139265279 139265279 C T snp 182.77 0/1 95 10 4 6 0.6 intronic rs1188898 REPS1 AU NM_001128617 exon14 c.38952+127C>T 0.807907 0.628 Uncertain 6_139265498_A->G 6 139265498 139265498 A G snp 155.77 0/1 99 9 4 5 0.56 intronic rs17068156 REPS1 AU NM_001128617 exon15 c.39434-136A>G 0.139976 0.2192 Uncertain 6_139265882_T->A 6 139265882 139265882 T A snp 593.77 0/1 99 37 18 19 0.51 intronic rs1188897 REPS1 AU NM_001128617 exon15 c.39559+123T>A 0.507188 0.3611 Uncertain 6_139266402_G->A 6 139266402 139266402 G A snp 106.77 0/1 99 21 14 7 0.33 exonic rs1569238 REPS1 AU synonymous SNV NM_001128617 exon4 c.C582T p.L194L 0.136382 0.2183 0.083115 0.0630 0.2162 Uncertain 6_139355158_A->G 6 139355158 139355158 A G snp 173.77 0/1 99 16 10 6 0.38 intronic rs3813331 ABRACL AU 0.0740815 0.0605 Uncertain 6_139456761_T->C 6 139456761 139456761 T C snp 43.77 0/1 36 5 2 3 0.6 exonic rs185694700 HECA AU synonymous SNV NM_016217 exon1 c.T228C p.A76A 0.635184 0.2183 0 . Uncertain 6_139487836_T->C 6 139487836 139487836 T C snp 1991.77 0/1 99 173 82 91 0.53 exonic rs3173082 HECA AU synonymous SNV NM_016217 exon2 c.T687C p.N229N 0.628395 0.2183 0.730231 0.6530 0.2169 Uncertain 6_139609755_T->C 6 139609755 139609755 T C snp 1995.77 0/1 99 150 71 79 0.53 exonic rs6933125 TXLNB AU synonymous SNV NM_153235 exon2 c.A282G p.S94S 0.0800719 0.1161 0.047517 0.0323 0.1183 Uncertain 6_141004964_-->T 6 141004964 141004964 - T indel 2110.73 1/1 99 49 0 49 1.0 ncRNA_exonic rs5880480 MIR4465 AU 1 1 1 . Uncertain 6_142384062_A->G 6 142384062 142384062 A G snp 558.77 1/1 42 16 0 16 1.0 intergenic rs6906577 MIR4465 AU 0.349441 0.6964 Uncertain 6_142384082_G->A 6 142384082 142384082 G A snp 1161.77 1/1 87 31 0 31 1.0 intergenic rs6907175 MIR4465 AU 0.751198 0.8532 Uncertain 6_142491463_-->G 6 142491463 142491463 - G indel 1249.73 1/1 96 32 0 32 1.0 intronic rs11446143 VTA1 AU NM_001286372 exon3 c.22979-19insG 1 1 0.999920 1.0000 1 Uncertain 6_142691874_A->T 6 142691874 142691874 A T snp 2347.77 0/1 99 199 105 94 0.47 exonic rs200437948 ADGRG6 AR nonsynonymous SNV NM_198569 exon4 c.A1013T p.N338I 0.000399361 0.002 0.000084 0.0003 0.0038 0 D 0.967 D -0.510 T 0.996 D 0.964 D Pathogenic 6_142703137_C->T 6 142703137 142703137 C T snp 1728.77 0/1 99 153 79 74 0.48 exonic rs2143390 ADGRG6 AR synonymous SNV NM_198569 exon5 c.C1119T p.D373D 0.0992412 0.2619 0.064039 0.1207 0.2877 Uncertain 6_142705070_G->A 6 142705070 142705070 G A snp 137.77 0/1 99 13 8 5 0.38 intronic rs41289839 ADGRG6 AR NM_020455 exon6 c.81514+90G>A 0.104633 0.2619 Uncertain 6_142711376_T->C 6 142711376 142711376 T C snp 660.77 0/1 99 72 43 29 0.4 intronic rs145685978 ADGRG6 AR NM_020455 exon7 c.87928-18T>C 0.00139776 0.0069 0.0003 0.0047 Uncertain 6_142713842_G->A 6 142713842 142713842 G A snp 182.9 1/1 15 5 0 5 1.0 intronic rs6570508 ADGRG6 AR NM_020455 exon8 c.90618-242G>A 0.610423 0.746 Uncertain 6_142718801_G->A 6 142718801 142718801 G A snp 6572.77 1/1 99 245 0 245 1.0 exonic rs989946 ADGRG6 AR synonymous SNV NM_198569 exon10 c.G1476A p.L492L 0.996605 1 0.994912 0.9957 1 1.000 P Uncertain 6_142724918_C->T 6 142724918 142724918 C T snp 1323.77 0/1 99 93 47 46 0.49 intronic rs9496369 ADGRG6 AR NM_020455 exon14 c.101472-20C>T 0.456869 0.4058 0.406531 0.3530 0.4194 Uncertain 6_142758631_A->G 6 142758631 142758631 A G snp 4075.77 1/1 99 159 0 159 1.0 exonic rs1262686 ADGRG6 AR nonsynonymous SNV NM_198569 exon23 c.A3380G p.Q1127R 0.999601 1 0.998233 0.9985 1 1 T 0.0 P -0.990 T 0.0 T 0.0 T Pathogenic 6_143074700_T->C 6 143074700 143074700 T C snp 4333.77 1/1 99 147 0 147 1.0 exonic rs169098 HIVEP2 AD synonymous SNV NM_006734 exon10 c.A6885G p.P2295P 0.769968 0.8313 0.701883 0.6891 0.8486 Uncertain 6_143075242_C->G 6 143075242 143075242 C G snp 54.74 1/1 6 2 0 2 1.0 intronic rs197477 HIVEP2 AD NM_006734 exon1 c.825+174C>G 0.752796 0.8353 Uncertain 6_143081847_A->G 6 143081847 143081847 A G snp 478.77 1/1 36 13 0 13 1.0 intronic rs197462 HIVEP2 AD NM_006734 exon2 c.7561+43A>G 0.804712 0.8234 0.755611 0.7340 0.8325 Uncertain 6_143091263_A->G 6 143091263 143091263 A G snp 5278.77 1/1 99 185 0 185 1.0 exonic rs109836 HIVEP2 AD nonsynonymous SNV NM_006734 exon5 c.T4613C p.L1538P 0.978834 0.999 0.976610 0.9731 0.9997 0.87 T 0.000 P -0.993 T 0.0 T 0.0 T Pathogenic 6_143095711_G->A 6 143095711 143095711 G A snp 2730.77 0/1 99 242 130 112 0.46 exonic rs181820131 HIVEP2 AD synonymous SNV NM_006734 exon5 c.C165T p.I55I 0.000599042 0.003 0.0001 0.0021 ID=COSM216734;OCCURENCE=1(pancreas) Uncertain 6_143605472_G->T 6 143605472 143605472 G T snp 764.77 1/1 57 24 0 24 1.0 intronic rs9403480 AIG1 AU NM_016108 exon4 c.223300+110G>T 0.857628 0.998 Uncertain 6_143654625_C->T 6 143654625 143654625 C T snp 1213.77 0/1 99 137 81 56 0.41 intronic rs2303386 AIG1 AU NM_016108 exon5 c.272520+43C>T 0.487021 0.5476 0.393895 0.4559 0.5350 Uncertain 6_143825104_G->T 6 143825104 143825104 G T snp 1243.77 0/1 99 118 62 56 0.47 exonic rs11155297 FUCA2 AU nonsynonymous SNV NM_032020 exon3 c.C698A p.A233E 0.0890575 0.002 0.191527 0.1855 0.0034 0.5 T 1.0 P -0.700 T 0.999 D 0.995 D Pathogenic 6_143828543_T->C 6 143828543 143828543 T C snp 348.77 0/1 99 28 16 12 0.43 exonic rs114388392 FUCA2 AU synonymous SNV NM_032020 exon2 c.A243G p.E81E 0.000399361 0.001 0.000077 0.0003 0.0017 Uncertain 6_144032317_A->G 6 144032317 144032317 A G snp 1002.77 1/1 72 38 0 38 1.0 intronic rs2488101 PHACTR2 AU NM_001100164 exon2 c.33852-835A>G 0.705272 0.7143 Uncertain 6_144032827_A->G 6 144032827 144032827 A G snp 1289.77 0/1 99 96 46 50 0.52 intronic PHACTR2 AU NM_001100164 exon2 c.33852-325A>G Uncertain 6_144033366_G->A 6 144033366 144033366 G A snp 476.77 1/1 36 14 0 14 1.0 intronic rs3762004 PHACTR2 AU NM_001100164 exon2 c.34020+46G>A 0.16893 0.3006 0.082634 0.1440 0.3197 Uncertain 6_144081768_C->A 6 144081768 144081768 C A snp 2007.77 1/1 99 82 1 81 0.99 exonic rs2073215 PHACTR2 AU synonymous SNV NM_001100164 exon5 c.C685A p.R229R 0.219249 0.3988 0.121619 0.1453 0.3690 Uncertain 6_144093352_C->T 6 144093352 144093352 C T snp 1244.77 1/1 90 41 0 41 1.0 intronic rs1018463 PHACTR2 AU NM_001100164 exon7 c.94094-42C>T 0.205671 0.4018 0.113324 0.1441 0.3704 Uncertain 6_144164518_C->T 6 144164518 144164518 C T snp 1507.77 0/1 99 92 35 57 0.62 UTR5 rs536046840 LTV1 AU 0.000199681 0.001 Uncertain 6_144165810_T->- 6 144165810 144165810 T - indel 712.73 1/1 37 55 4 51 0.93 intronic rs35521359 LTV1 AU NM_032860 exon2 c.1140+56delT 0.430911 0.5466 Uncertain 6_144167477_G->A 6 144167477 144167477 G A snp 257.8 1/1 21 10 0 10 1.0 intronic rs2277078 LTV1 AU NM_032860 exon3 c.2747+116G>A 0.323283 0.4861 Uncertain 6_144178419_T->C 6 144178419 144178419 T C snp 2006.77 1/1 99 63 0 63 1.0 intronic rs3818089 LTV1 AU NM_032860 exon5 c.13825-20T>C 0.461062 0.506 0.372136 0.3543 0.5419 Uncertain 6_144258650_C->A 6 144258650 144258650 C A snp 285.78 1/1 24 10 0 10 1.0 intronic rs1884088 ZC2HC1B AU NM_001013623 exon7 c.73109-135C>A 0.754792 0.7659 Uncertain 6_144258670_-->A 6 144258670 144258670 - A indel 456.73 1/1 48 16 0 16 1.0 intronic rs3215583 ZC2HC1B AU NM_001013623 exon7 c.73109-115insA 0.751198 0.7609 Uncertain 6_144262783_G->T 6 144262783 144262783 G T snp 2054.77 0/1 99 153 68 85 0.56 exonic rs17847331 PLAGL1 AU synonymous SNV NM_001080951 exon8 c.C1170A p.P390P 0.0127796 0.0585 0.0052 0.0617 Uncertain 6_144508698_G->A 6 144508698 144508698 G A snp 75.77 0/1 87 7 3 4 0.57 UTR3 rs3734228 STX11 AR 0.160343 0.2331 Uncertain 6_144758799_A->G 6 144758799 144758799 A G snp 2854.77 1/1 99 110 0 110 1.0 exonic rs4895642 UTRN AU synonymous SNV NM_007124 exon10 c.A1158G p.E386E 0.464657 0.4365 0.400123 0.3309 0.4368 Uncertain 6_144761383_A->G 6 144761383 144761383 A G snp 252.8 1/1 21 7 0 7 1.0 intronic rs4282425 UTRN AU NM_007124 exon12 c.148523-104A>G 0.367212 0.2937 Uncertain 6_144761429_G->A 6 144761429 144761429 G A snp 1225.77 1/1 90 34 0 34 1.0 intronic rs4609044 UTRN AU NM_007124 exon12 c.148523-58G>A 0.423922 0.2937 Uncertain 6_144772421_A->G 6 144772421 144772421 A G snp 1018.77 0/1 99 94 51 43 0.46 intronic rs6902981 UTRN AU NM_007124 exon17 c.159541-84A>G 0.0852636 0.125 Uncertain 6_144835040_T->C 6 144835040 144835040 T C snp 822.77 0/1 99 79 48 31 0.39 splicing rs66905872 UTRN AU NM_007124 exon35 c.222080-4T>C 0.264776 0.1984 0.251038 0.2322 0.1874 Pathogenic 6_144869785_A->G 6 144869785 144869785 A G snp 1082.77 0/1 99 67 31 36 0.54 exonic rs1534443 UTRN AU nonsynonymous SNV NM_007124 exon46 c.A6605G p.N2202S 0.373003 0.5952 0.255805 0.3007 0.6101 0.97 T 0.0 P -1.090 T 0.0 T 0.0 T Pathogenic 6_144870040_T->C 6 144870040 144870040 T C snp 1257.77 0/1 99 124 71 53 0.43 intronic rs1534442 UTRN AU NM_007124 exon46 c.257026+50T>C 0.370607 0.5952 0.254306 0.3063 0.6166 Uncertain 6_144872051_C->A 6 144872051 144872051 C A snp 380.77 0/1 99 28 14 14 0.5 intronic rs1005974 UTRN AU NM_007124 exon47 c.259136-49C>A 0.253594 0.1964 0.234236 0.2095 0.1814 Uncertain 6_144872311_A->G 6 144872311 144872311 A G snp 46.78 0/1 27 3 1 2 0.67 intronic rs1554813 UTRN AU NM_007124 exon47 c.259254+93A>G Uncertain 6_144878337_G->T 6 144878337 144878337 G T snp 1364.77 0/1 99 125 64 61 0.49 exonic rs2293536 UTRN AU synonymous SNV NM_007124 exon49 c.G7179T p.A2393A 0.212061 0.5317 0.085038 0.1108 0.5456 Uncertain 6_144904655_G->A 6 144904655 144904655 G A snp 2885.77 0/1 99 250 131 119 0.48 intronic rs17793810 UTRN AU NM_007124 exon50 c.285460+6231G>A 0.155351 0.1944 0.1786 0.1481 Uncertain 6_144999763_A->C 6 144999763 144999763 A C snp 448.77 0/1 99 43 27 16 0.37 intronic rs9376837 UTRN AU NM_007124 exon51 c.386750+49A>C 0.21865 0.502 0.121247 0.1726 0.5439 Uncertain 6_145021193_-->TTA 6 145021193 145021193 - TTA indel 1107.73 0/1 99 55 30 25 0.45 intronic rs761543005 UTRN AU NM_007124 exon52 c.408258-29insTTA 0.0034 0.0144 Uncertain 6_145051594_G->A 6 145051594 145051594 G A snp 1603.77 1/1 99 62 0 62 1.0 exonic rs4305737 UTRN AU synonymous SNV NM_007124 exon53 c.G7911A p.E2637E 0.642772 0.8681 0.434646 0.4110 0.8793 Uncertain 6_145069287_C->T 6 145069287 145069287 C T snp 309.78 1/1 24 9 0 9 1.0 intronic rs7756909 UTRN AU NM_007124 exon54 c.456417-94C>T 0.664736 0.869 Uncertain 6_145075724_C->T 6 145075724 145075724 C T snp 215.84 1/1 18 7 0 7 1.0 intronic rs4896740 UTRN AU NM_007124 exon56 c.462891-131C>T 0.63099 0.8681 Uncertain 6_145076046_C->G 6 145076046 145076046 C G snp 343.78 1/1 27 9 0 9 1.0 intronic rs4243472 UTRN AU NM_007124 exon56 c.462970+112C>G 0.646965 0.8681 Uncertain 6_145076048_T->A 6 145076048 145076048 T A snp 349.78 1/1 27 9 0 9 1.0 intronic rs4243473 UTRN AU NM_007124 exon56 c.462970+114T>A 0.646965 0.8681 Uncertain 6_145079197_T->C 6 145079197 145079197 T C snp 1533.77 1/1 99 47 0 47 1.0 intronic rs9283116 UTRN AU NM_007124 exon57 c.466161+72T>C 0.645567 0.8681 0.411481 Uncertain 6_145092930_A->G 6 145092930 145092930 A G snp 143.03 1/1 12 6 0 6 1.0 intronic rs9403603 UTRN AU NM_007124 exon58 c.480078-112A>G 0.240216 0.4544 Uncertain 6_145095545_-->T 6 145095545 145095545 - T indel 875.73 1/1 69 63 2 61 0.97 intronic rs10650309 UTRN AU NM_007124 exon59 c.482536+45insT 0.456869 0.5784 0.3384 0.5123 Uncertain 6_145114935_A->G 6 145114935 145114935 A G snp 3655.77 1/1 99 131 0 131 1.0 intronic rs4243475 UTRN AU NM_007124 exon62 c.502005-34A>G 0.686502 0.8938 0.517300 0.5357 0.9039 Uncertain 6_145120682_A->G 6 145120682 145120682 A G snp 2123.77 1/1 99 72 0 72 1.0 intronic rs9376859 UTRN AU NM_007124 exon63 c.506162+1556A>G 0.38738 0.7004 Uncertain 6_145120719_CTACTA->- 6 145120719 145120724 CTACTA - indel 2592.73 1/1 87 37 0 37 1.0 intronic rs67034814 UTRN AU NM_007124 exon63 c.506162+1593_506162+1598delCTACTA 0.199281 0.4494 Uncertain 6_145124098_A->C 6 145124098 145124098 A C snp 615.77 1/1 45 22 0 22 1.0 intronic rs4631314 UTRN AU NM_007124 exon64 c.511207-73A>C 0.213858 0.4494 Uncertain 6_145148407_C->T 6 145148407 145148407 C T snp 3965.77 1/1 99 149 0 149 1.0 intronic rs2297845 UTRN AU NM_007124 exon66 c.535519-76C>T 0.191094 0.4395 0.091984 Uncertain 6_145148690_A->C 6 145148690 145148690 A C snp 3908.77 1/1 99 120 0 120 1.0 intronic rs2066054 UTRN AU NM_007124 exon67 c.535782-56A>C 0.766573 0.9563 0.586728 Uncertain 6_145148927_T->C 6 145148927 145148927 T C snp 2211.77 1/1 99 67 0 67 1.0 intronic rs2297844 UTRN AU NM_007124 exon67 c.535848+115T>C 0.280152 0.4464 Uncertain 6_145162001_A->G 6 145162001 145162001 A G snp 1402.77 1/1 99 51 0 51 1.0 intronic rs4895657 UTRN AU NM_007124 exon72 c.549004+33A>G 0.738818 0.9514 0.549439 0.5249 0.9653 Uncertain 6_146007166_G->A 6 146007166 146007166 G A snp 178.9 1/1 15 5 0 5 1.0 intronic rs702322 EPM2A AR NM_001018041 exon4 c.60427-91G>A 0.735823 0.7917 Uncertain 6_146012061_T->C 6 146012061 146012061 T C snp 683.77 1/1 54 30 0 30 1.0 intronic rs2142978 EPM2A AR NM_001018041 exon4 c.60602+4629T>C 0.735623 0.7917 Uncertain 6_146056476_G->C 6 146056476 146056476 G C snp 1837.77 1/1 99 61 0 61 1.0 exonic rs2235482 EPM2A AR synonymous SNV NM_005670 exon1 c.C159G p.A53A 0.653355 0.7659 0.695559 0.5303 0.7385 Uncertain 6_146112348_T->C 6 146112348 146112348 T C snp 338.78 1/1 27 14 0 14 1.0 ncRNA_intronic rs6931553 LOC100507557 AU 0.670128 0.7659 0.5943 0.7576 Uncertain 6_146231470_C->A 6 146231470 146231470 C A snp 56.74 1/1 6 2 0 2 1.0 intronic rs9403755 SHPRH AU NM_173082 exon6 c.24020-113C>A 0.650359 0.6935 Uncertain 6_146231882_T->C 6 146231882 146231882 T C snp 155.77 0/1 51 7 2 5 0.71 intronic SHPRH AU NM_173082 exon6 c.24209+110T>C Uncertain 6_146234644_G->A 6 146234644 146234644 G A snp 958.77 1/1 69 38 0 38 1.0 exonic rs9497426 SHPRH AU synonymous SNV NM_001042683 exon24 c.C4296T p.C1432C 0.836262 0.8095 0.812032 0.7804 0.8174 Uncertain 6_146243581_C->T 6 146243581 146243581 C T snp 354.78 1/1 27 11 0 11 1.0 intronic rs6917482 SHPRH AU NM_173082 exon11 c.35921+97C>T 0.650359 0.6935 Uncertain 6_146243916_T->C 6 146243916 146243916 T C snp 1756.77 0/1 99 164 83 81 0.49 exonic rs118070529 SHPRH AU nonsynonymous SNV NM_001042683 exon19 c.A3602G p.N1201S 0.0259585 0.126 0.000251 0.0084 0.1047 0.62 T 1.000 N -0.997 T 0.0 T 0.001 T Pathogenic 6_146244743_A->G 6 146244743 146244743 A G snp 2336.77 1/1 99 72 0 72 1.0 intronic rs6923545 SHPRH AU NM_173082 exon13 c.37215-35A>G 0.661941 0.745 0.626915 0.6044 0.7276 Uncertain 6_146248177_T->C 6 146248177 146248177 T C snp 214.84 1/1 18 6 0 6 1.0 intronic rs9497431 SHPRH AU NM_173082 exon16 c.40761-147T>C 0.677915 0.746 Uncertain 6_146254100_-->C 6 146254100 146254100 - C indel 145.52 0/1 7 8 1 7 0.88 intronic rs397746518 SHPRH AU NM_173082 exon17 c.46629-92insC 0.559105 0.6885 Uncertain 6_146262697_G->T 6 146262697 146262697 G T snp 5628.77 1/1 99 201 0 201 1.0 intronic rs9285508 SHPRH AU NM_173082 exon21 c.55195-61G>T 0.792332 0.7937 Uncertain 6_146264071_T->C 6 146264071 146264071 T C snp 48.74 1/1 6 2 0 2 1.0 intronic rs6912351 SHPRH AU NM_173082 exon22 c.56715-207T>C 0.74401 0.7927 Uncertain 6_146264480_C->T 6 146264480 146264480 C T snp 3214.74 0/1 99 250 136 114 0.46 exonic rs9373478 SHPRH AU synonymous SNV NM_001042683 exon9 c.G2037A p.K679K 0.00738818 0.0367 0.0034 0.0472 Uncertain 6_146268623_T->A 6 146268623 146268623 T A snp 2992.77 1/1 99 107 0 107 1.0 splicing rs9386141 SHPRH AU NM_173082 exon25 c.61065-5T>A 0.562899 0.6944 0.548361 0.5704 0.6477 Pathogenic 6_146678929_T->C 6 146678929 146678929 T C snp 131.77 0/1 99 22 15 7 0.32 intronic rs362893 GRM1 AR NM_001278064 exon5 c.328177+99T>C 0.190096 0.2272 Uncertain 6_146678952_A->G 6 146678952 146678952 A G snp 64.77 0/1 93 15 10 5 0.33 intronic rs362894 GRM1 AR NM_001278064 exon5 c.328177+122A>G 0.191094 0.2272 Uncertain 6_146719883_C->A 6 146719883 146719883 C A snp 2412.77 0/1 99 216 110 106 0.49 intronic rs362856 GRM1 AR NM_001278064 exon7 c.369251-21C>A 0.213059 0.2738 0.157389 0.0975 0.2700 Uncertain 6_146755140_G->A 6 146755140 146755140 G A snp 2146.77 0/1 99 201 113 88 0.44 exonic rs2942 GRM1 AR synonymous SNV NM_001278064 exon8 c.G2793A p.K931K 0.534545 0.5466 0.518684 0.5090 0.5074 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000117204.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 6_146755324_T->C 6 146755324 146755324 T C snp 1799.77 0/1 99 164 89 75 0.46 exonic rs6923492 GRM1 AR nonsynonymous SNV NM_001278064 exon8 c.T2977C p.S993P 0.604034 0.5466 0.592803 0.5311 0.5091 1 T 0.000 P -1.044 T 0.0 T 0.0 T CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000117205.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 ID=CM146151;DIS=Autism spectrum disorder, increased risk;TAG=DP;PUB=24442360 DP Pathogenic 6_146755515_T->G 6 146755515 146755515 T G snp 1667.77 0/1 99 129 62 67 0.52 exonic rs6923864 GRM1 AR synonymous SNV NM_001278064 exon8 c.T3168G p.G1056G 0.690695 0.6131 0.674235 0.5773 0.5874 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000117206.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 6_146755842_C->A 6 146755842 146755842 C A snp 1703.77 0/1 99 195 127 68 0.35 exonic rs9373491 GRM1 AR synonymous SNV NM_001278064 exon8 c.C3495A p.P1165P 0.592652 0.5466 0.582320 0.5277 0.5128 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000117208.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 6_146920271_C->T 6 146920271 146920271 C T snp 3570.77 1/1 99 143 2 141 0.99 intronic rs74468352 ADGB AU NM_024694 exon1 c.74+21C>T 0.129992 0.255 0.074901 0.1023 0.2122 Uncertain 6_146921421_C->A 6 146921421 146921421 C A snp 1638.77 1/1 99 55 0 55 1.0 intronic rs75395649 ADGB AU NM_024694 exon1 c.74+1171C>A 0.13099 0.255 0.1327 0.2063 Uncertain 6_146975457_TA->- 6 146975457 146975458 TA - indel 911.73 1/1 66 37 0 37 1.0 intronic rs34737176 ADGB AU NM_024694 exon4 c.55166+115_55166+116delTA 0.823283 0.6984 Uncertain 6_146987930_C->T 6 146987930 146987930 C T snp 2550.77 1/1 99 102 0 102 1.0 intronic rs9403802 ADGB AU NM_024694 exon7 c.67775-21C>T 0.355631 0.5367 0.358238 0.4218 0.5353 Uncertain 6_147047341_T->C 6 147047341 147047341 T C snp 1309.77 0/1 99 118 59 59 0.5 intronic rs3747754 ADGB AU NM_024694 exon19 c.127157+8T>C 0.177915 0.1954 0.233246 0.2230 0.2013 Uncertain 6_147049641_T->A 6 147049641 147049641 T A snp 402.77 0/1 99 31 16 15 0.48 intronic rs11155480 ADGB AU NM_024694 exon20 c.129533-68T>A 0.611821 0.6359 Uncertain 6_147049899_T->C 6 147049899 147049899 T C snp 1413.77 0/1 99 91 38 53 0.58 intronic rs1327669 ADGB AU NM_024694 exon20 c.129701+22T>C 0.177117 0.1954 0.230618 0.2286 0.2081 Uncertain 6_147054410_-->A 6 147054410 147054410 - A indel 1477.73 0/1 99 61 20 41 0.67 intronic rs67991595 ADGB AU NM_024694 exon21 c.134215+19insA 0.547524 0.628 0.531842 0.4566 0.6327 Uncertain 6_147054450_A->C 6 147054450 147054450 A C snp 767.77 0/1 99 34 7 27 0.79 intronic rs3761782 ADGB AU NM_024694 exon21 c.134215+59A>C 0.161142 0.1954 Uncertain 6_147054498_G->C 6 147054498 147054498 G C snp 188.77 0/1 54 8 2 6 0.75 intronic rs3761783 ADGB AU NM_024694 exon21 c.134215+107G>C 0.161142 0.1954 Uncertain 6_147062220_C->T 6 147062220 147062220 C T snp 102.77 0/1 99 13 9 4 0.31 intronic rs1327666 ADGB AU NM_024694 exon25 c.142077-33C>T 0.535743 0.6062 0.529811 0.4598 0.6023 Uncertain 6_147066954_G->A 6 147066954 147066954 G A snp 582.77 0/1 99 30 11 19 0.63 intronic rs9647636 ADGB AU NM_024694 exon26 c.146881-103G>A 0.523363 0.6032 Uncertain 6_147067093_C->T 6 147067093 147067093 C T snp 1519.77 0/1 99 131 72 59 0.45 exonic rs9647637 ADGB AU synonymous SNV NM_024694 exon26 c.C3213T p.G1071G 0.160543 0.1954 0.214849 0.2130 0.2081 Uncertain 6_147073640_ATA->- 6 147073640 147073642 ATA - indel 2480.73 0/1 99 75 29 46 0.61 intronic rs140827988 ADGB AU NM_024694 exon27 c.153489-25_153489-23delATA 0.195487 0.1954 0.242327 0.2586 0.2061 Uncertain 6_147084985_T->C 6 147084985 147084985 T C snp 199.77 0/1 99 15 6 9 0.6 intronic rs7752601 ADGB AU NM_024694 exon28 c.164860-51T>C 0.542732 0.6081 Uncertain 6_147103358_A->G 6 147103358 147103358 A G snp 1285.77 0/1 99 76 30 46 0.61 intronic rs1325701 ADGB AU NM_024694 exon30 c.183152+30A>G 0.425519 0.3988 0.396408 0.4853 0.3983 Uncertain 6_147103416_C->T 6 147103416 147103416 C T snp 870.77 1/1 66 22 0 22 1.0 intronic rs259405 ADGB AU NM_024694 exon30 c.183152+88C>T 0.775559 0.6062 Uncertain 6_147106841_A->G 6 147106841 147106841 A G snp 2342.77 0/1 99 172 70 102 0.59 exonic rs259391 ADGB AU synonymous SNV NM_024694 exon32 c.A4308G p.K1436K 0.547524 0.4067 0.542507 0.5561 0.4084 0 D 0.0 P -1.002 T Likely benign 6_147136212_A->T 6 147136212 147136212 A T snp 779.77 0/1 99 82 48 34 0.41 exonic rs1052444 ADGB AU nonsynonymous SNV NM_024694 exon36 c.A4863T p.E1621D 0.404353 0.6895 0.289220 0.3459 0.6613 0.05 T 0.001 P -0.965 T 0.999 D 0.991 D Pathogenic 6_147136244_A->G 6 147136244 147136244 A G snp 767.77 0/1 99 91 51 40 0.44 exonic rs259370 ADGB AU nonsynonymous SNV NM_024694 exon36 c.A4895G p.H1632R 0.73143 0.8046 0.653745 0.6059 0.7825 1 T 0.000 P -0.946 T 0.0 T 0.0 T Pathogenic 6_147136444_A->C 6 147136444 147136444 A C snp 68.77 0/1 97 8 5 3 0.38 UTR3 rs1052449 ADGB AU 0.425919 0.6885 Uncertain 6_147581693_A->G 6 147581693 147581693 A G snp 1083.77 0/1 99 73 32 41 0.56 intronic rs188823771 STXBP5 AU NM_001127715 exon5 c.56082-57A>G 0.00199681 0.0099 Uncertain 6_147631201_A->G 6 147631201 147631201 A G snp 428.77 0/1 99 43 24 19 0.44 intronic rs6928919 STXBP5 AU NM_001127715 exon10 c.105551-18A>G 0.455471 0.2956 0.506639 0.5152 0.2854 Uncertain 6_147631421_-->A 6 147631421 147631421 - A indel 122.73 0/1 82 32 6 26 0.81 intronic rs11415538 STXBP5 AU NM_001127715 exon10 c.105706+47insA 0.375799 0.2649 0.2840 0.1434 Uncertain 6_147635311_G->T 6 147635311 147635311 G T snp 416.77 0/1 99 25 10 15 0.6 intronic rs76521683 STXBP5 AU NM_001127715 exon13 c.109731-88G>T 0.0982428 0.2708 Uncertain 6_147635318_-->AC 6 147635318 147635318 - AC indel 251.73 0/1 99 26 17 9 0.35 intronic rs397783340 STXBP5 AU NM_001127715 exon13 c.109731-81insAC Uncertain 6_147635385_C->G 6 147635385 147635385 C G snp 437.77 0/1 99 48 25 23 0.48 intronic rs1039083 STXBP5 AU NM_001127715 exon13 c.109731-14C>G 0.508786 0.3056 0.575769 0.5508 0.2916 Uncertain 6_147635413_A->G 6 147635413 147635413 A G snp 404.77 0/1 99 49 28 21 0.43 exonic rs1039084 STXBP5 AU nonsynonymous SNV NM_001127715 exon13 c.A1307G p.N436S 0.457069 0.2937 0.504459 0.5062 0.2781 1 T 0.142 P -0.997 T 0.0 T 0.001 T ID=CM114021;DIS=Venous thrombosis, reduced risk, association;TAG=DP;PUB=21163921 DP Pathogenic 6_147635547_C->T 6 147635547 147635547 C T snp 71.77 0/1 99 11 8 3 0.27 intronic rs1039085 STXBP5 AU NM_001127715 exon13 c.109799+80C>T 0.519169 0.3056 Uncertain 6_147680359_A->G 6 147680359 147680359 A G snp 2180.77 0/1 99 207 115 92 0.44 exonic rs9390459 STXBP5 AU synonymous SNV NM_001127715 exon23 c.A2445G p.L815L 0.504193 0.2907 0.561895 0.5326 0.2789 1.000 P -0.949 T Likely benign 6_147830073_C->T 6 147830073 147830073 C T snp 1885.77 0/1 99 168 89 79 0.47 exonic rs66812182 SAMD5 AU synonymous SNV NM_001030060 exon1 c.C9T p.T3T 0.317492 0.2391 0.294864 0.2832 0.2398 Uncertain 6_148808624_G->C 6 148808624 148808624 G C snp 689.77 1/1 51 23 0 23 1.0 intronic rs2294778 SASH1 AU NM_015278 exon8 c.144546-125G>C 0.763379 0.755 Uncertain 6_148808631_G->T 6 148808631 148808631 G T snp 863.77 1/1 63 31 0 31 1.0 intronic rs2294779 SASH1 AU NM_015278 exon8 c.144546-118G>T 0.721845 0.755 Uncertain 6_148829910_A->G 6 148829910 148829910 A G snp 2904.77 1/1 99 81 1 80 0.99 intronic rs9377143 SASH1 AU NM_015278 exon9 c.171256-5549A>G 0.234425 0.4454 Uncertain 6_148835416_C->T 6 148835416 148835416 C T snp 963.77 0/1 99 71 25 46 0.65 intronic rs1057793 SASH1 AU NM_015278 exon9 c.171256-43C>T 0.190096 0.3244 0.183069 0.2164 0.3085 Uncertain 6_148848919_C->T 6 148848919 148848919 C T snp 227.77 0/1 99 11 4 7 0.64 intronic rs2110198 SASH1 AU NM_015278 exon12 c.184529+187C>T 0.820288 0.7827 Uncertain 6_148853867_T->C 6 148853867 148853867 T C snp 1017.77 0/1 99 85 46 39 0.46 intronic rs1465307 SASH1 AU NM_015278 exon14 c.189729-65T>C 0.477636 0.4544 Uncertain 6_148854870_G->C 6 148854870 148854870 G C snp 83.77 0/1 67 5 2 3 0.6 intronic rs41288415 SASH1 AU NM_015278 exon15 c.190703-36G>C 0.116813 0.1488 0.110026 0.1209 0.1441 Uncertain 6_148861716_G->A 6 148861716 148861716 G A snp 2830.77 0/1 99 232 106 126 0.54 intronic rs6909677 SASH1 AU NM_015278 exon17 c.197489+24G>A 0.113818 0.0952 0.138167 0.1591 0.1346 Uncertain 6_149691292_T->- 6 149691292 149691292 T - indel 745.73 0/1 99 49 23 26 0.53 intronic rs35974009 TAB2 AD NM_015093 exon4 c.102+57delT 0.21865 0.5496 Uncertain 6_149700491_G->A 6 149700491 149700491 G A snp 3311.77 0/1 99 250 115 135 0.54 exonic rs3734296 TAB2 AD synonymous SNV NM_015093 exon5 c.G1440A p.V480V 0.218051 0.5496 0.091189 0.1712 0.5208 Uncertain 6_149700805_G->A 6 149700805 149700805 G A snp 237.77 0/1 99 17 8 9 0.53 intronic rs2031450 TAB2 AD NM_015093 exon5 c.9521+151G>A 0.867013 0.9058 Uncertain 6_149718650_C->T 6 149718650 149718650 C T snp 1353.77 1/1 96 51 0 51 1.0 intronic rs237028 TAB2 AD NM_015093 exon6 c.27606-89C>T 0.648762 0.7361 Uncertain 6_149721690_G->A 6 149721690 149721690 G A snp 5709.77 1/1 99 219 2 217 0.99 exonic rs237025 SUMO4 AU nonsynonymous SNV NM_001002255 exon1 c.G163A p.V55M 0.645966 0.7361 0.561895 0.5551 0.7181 1 T 0.000 P -0.970 T CLINSIG=other;CLNDBN=Diabetes_mellitus\x2c_insulin-dependent\x2c_5;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000002143.1;CLNDSDB=MedGen:OMIM;CLNDSDBID=C1838260:600320 ID=CM042118;DIS=Diabetes, type 1, association with;TAG=DP;PUB=15247916 DP Pathogenic 6_149730846_G->A 6 149730846 149730846 G A snp 2009.77 0/1 99 184 96 88 0.48 exonic rs652921 TAB2 AD synonymous SNV NM_015093 exon9 c.G2073A p.R691R 0.217452 0.5496 0.091112 0.1710 0.5205 Uncertain 6_149772190_G->A 6 149772190 149772190 G A snp 535.77 0/1 99 45 23 22 0.49 exonic rs112722576 ZC3H12D AU nonsynonymous SNV NM_207360 exon6 c.C1213T p.P405S 0.335863 0.7649 0.134234 0.5028 0.7949 0.31 T 0.0 P -0.947 T 0.0 T 0.0 T Pathogenic 6_149772645_A->G 6 149772645 149772645 A G snp 2937.77 1/1 99 113 0 113 1.0 intronic rs415434 ZC3H12D AU NM_207360 exon1 c.797+30A>G 0.745208 0.881 0.622667 0.6117 0.8760 Uncertain 6_149773721_C->G 6 149773721 149773721 C G snp 156.77 0/1 99 19 12 7 0.37 intronic rs1001242 ZC3H12D AU NM_207360 exon2 c.1933-30C>G 0.329872 0.7589 0.142536 0.3486 0.7593 Uncertain 6_149780695_T->C 6 149780695 149780695 T C snp 267.77 0/1 99 24 14 10 0.42 intronic rs384163 ZC3H12D AU NM_207360 exon4 c.11148-2271T>C 0.298522 0.1141 Uncertain 6_149780737_-->ACTA 6 149780737 149780737 - ACTA indel 1537.73 0/1 99 56 29 27 0.48 intronic rs140859 ZC3H12D AU NM_207360 exon4 c.11148-2229insACTA 0.298123 0.1141 0.2895 0.1029 Uncertain 6_149782798_G->A 6 149782798 149782798 G A snp 37.77 0/1 66 12 9 3 0.25 intronic rs411091 ZC3H12D AU NM_207360 exon4 c.11148-168G>A 0.298323 0.1141 Uncertain 6_149782847_G->A 6 149782847 149782847 G A snp 268.77 0/1 99 34 22 12 0.35 intronic rs411308 ZC3H12D AU NM_207360 exon4 c.11148-119G>A 0.29972 0.1141 Uncertain 6_149782908_A->G 6 149782908 149782908 A G snp 542.77 0/1 99 67 41 26 0.39 intronic rs376757 ZC3H12D AU NM_207360 exon4 c.11148-58A>G 0.298323 0.1141 Uncertain 6_149783221_T->C 6 149783221 149783221 T C snp 341.78 1/1 27 9 0 9 1.0 intronic rs399673 ZC3H12D AU NM_207360 exon4 c.11288+115T>C 0.751997 0.875 Uncertain 6_149795261_T->C 6 149795261 149795261 T C snp 213.77 0/1 99 18 11 7 0.39 intronic rs382720 ZC3H12D AU NM_207360 exon5 c.23556-113T>C 0.326677 0.121 Uncertain 6_149795692_G->A 6 149795692 149795692 G A snp 728.77 0/1 99 79 49 30 0.38 UTR5 rs556775 ZC3H12D AU 0.309105 0.752 0.097888 0.2969 0.7494 Uncertain 6_149953835_A->G 6 149953835 149953835 A G snp 753.77 0/1 99 55 19 36 0.65 intronic rs9322202 KATNA1 AU NM_001204076 exon6 c.37538-59A>G 0.910144 0.9415 Uncertain 6_149953981_C->T 6 149953981 149953981 C T snp 716.77 0/1 99 77 42 35 0.45 exonic rs9800580 KATNA1 AU synonymous SNV NM_001204076 exon3 c.G234A p.L78L 0.561502 0.8224 0.433877 0.4532 0.8032 Uncertain 6_149983216_G->A 6 149983216 149983216 G A snp 2058.77 0/1 99 209 123 86 0.41 exonic rs3924871 LATS1 AU synonymous SNV NM_004690 exon8 c.C3042T p.D1014D 0.550719 0.8214 0.422651 0.4492 0.8019 Uncertain 6_149997657_T->C 6 149997657 149997657 T C snp 396.77 0/1 99 23 7 16 0.7 intronic rs62439843 LATS1 AU NM_004690 exon3 c.14826-33T>C 0.667532 0.8353 0.516915 0.4950 0.8191 Uncertain 6_150004779_A->G 6 150004779 150004779 A G snp 3459.77 0/1 99 250 111 139 0.56 exonic rs3798761 LATS1 AU synonymous SNV NM_004690 exon4 c.T1446C p.S482S 0.552316 0.8244 0.424266 0.4493 0.8029 Uncertain 6_150023348_C->G 6 150023348 150023348 C G snp 475.77 0/1 99 27 9 18 0.67 UTR5 rs4870509 LATS1 AU 0.433307 0.8244 Uncertain 6_150039148_G->A 6 150039148 150039148 G A snp 425.77 0/1 99 85 59 26 0.31 UTR5 rs12174349 LATS1 AU 0.549121 0.8244 0.4438 0.7536 1.000 P -1.063 T Uncertain 6_150064968_-->T 6 150064968 150064968 - T indel 644.73 1/1 45 15 0 15 1.0 intronic rs58509133 NUP43 AU NM_198887 exon6 c.16747+117insT 0.998802 1 Uncertain 6_150064977_T->A 6 150064977 150064977 T A snp 34.77 0/1 63 12 9 3 0.25 intronic rs1572229 NUP43 AU NM_198887 exon6 c.16747+126T>A 0.538139 0.8234 Uncertain 6_150067675_A->G 6 150067675 150067675 A G snp 3099.77 0/1 99 250 122 128 0.51 UTR5 rs10872646 NUP43 AU 0.542133 0.8234 0.408965 0.4451 0.8035 0.19 T 0.000 P -1.066 T Uncertain 6_150093678_C->T 6 150093678 150093678 C T snp 1610.77 0/1 99 206 132 74 0.36 intronic rs3805748 PCMT1 AU NM_001252053 exon3 c.23410-595C>T 0.664337 0.8343 0.4922 0.8131 Uncertain 6_150093682_C->T 6 150093682 150093682 C T snp 1662.77 0/1 99 214 137 77 0.36 intronic rs3805749 PCMT1 AU NM_001252053 exon3 c.23410-591C>T 0.432508 0.8234 0.4061 0.7980 Uncertain 6_150114606_C->T 6 150114606 150114606 C T snp 143.77 0/1 99 14 8 6 0.43 intronic rs12182220 PCMT1 AU NM_001252053 exon5 c.43821-78C>T Uncertain 6_150114745_G->A 6 150114745 150114745 G A snp 1890.77 0/1 99 147 65 82 0.56 exonic rs4816 PCMT1 AU nonsynonymous SNV NM_005389 exon5 c.G532A p.V178I 0.667332 0.8343 0.516533 0.4918 0.8186 0.39 T 0.000 P -1.025 T 0.0 T 0.001 T ID=CM060415;DIS=Reduced stability;TAG=FP;PUB=9343375 FP Pathogenic 6_150123317_T->- 6 150123317 150123317 T - indel 219.73 0/1 99 29 14 15 0.52 intronic rs11297063 PCMT1 AU NM_001252053 exon7 c.52472-18delT 0.5357 0.6271 Uncertain 6_150163911_T->C 6 150163911 150163911 T C snp 1324.77 0/1 99 97 46 51 0.53 intronic rs2275045 LRP11 AU NM_032832 exon5 c.22434-207T>C 0.530751 0.8214 Uncertain 6_150164378_G->A 6 150164378 150164378 G A snp 2103.77 0/1 99 164 81 83 0.51 intronic rs2184370 LRP11 AU NM_032832 exon5 c.22576+118G>A 0.523762 0.8125 Uncertain 6_150184882_G->C 6 150184882 150184882 G C snp 898.77 0/1 99 61 21 40 0.66 exonic rs9322225 LRP11 AU nonsynonymous SNV NM_032832 exon1 c.C275G p.P92R 0.478035 0.8224 0.333760 0.4996 0.8484 0.45 T 0.000 P -1.030 T 0.133 T 0.044 T Pathogenic 6_150209196_G->A 6 150209196 150209196 G A snp 830.77 0/1 99 84 49 35 0.42 ncRNA_intronic rs9968871 RAET1E-AS1 AU 0.467452 0.8859 Uncertain 6_150209204_A->G 6 150209204 150209204 A G snp 908.77 0/1 99 92 53 39 0.42 ncRNA_intronic rs9969044 RAET1E-AS1 AU 0.467452 0.8859 Uncertain 6_150209309_C->G 6 150209309 150209309 C G snp 1152.77 0/1 99 123 68 55 0.45 ncRNA_intronic rs9322228 RAET1E-AS1 AU 0.546526 0.8859 0.414545 0.4604 0.8742 Uncertain 6_150209432_G->A 6 150209432 150209432 G A snp 246.77 0/1 99 26 17 9 0.35 ncRNA_intronic rs7774787 RAET1E-AS1 AU 0.546526 0.8859 Uncertain 6_150209717_C->G 6 150209717 150209717 C G snp 1876.77 0/1 99 155 67 88 0.57 exonic rs2342767 RAET1E AU nonsynonymous SNV NM_001243325 exon4 c.G601C p.V201L 0.546126 0.8859 0.420652 0.4631 0.8838 0.07 T 0.000 P -0.918 T 0.066 T 0.058 T Pathogenic 6_150209823_G->A 6 150209823 150209823 G A snp 54.77 0/1 83 10 6 4 0.4 ncRNA_intronic rs768240386 RAET1E-AS1 AU 0.0383 0.0106 Uncertain 6_150210681_G->A 6 150210681 150210681 G A snp 2830.77 0/1 99 229 101 128 0.56 exonic rs9371533 RAET1E AU nonsynonymous SNV NM_001243325 exon3 c.C317T p.T106I 0.685903 0.8968 0.539905 0.5184 0.8998 0.81 T 0.0 P -0.977 T 0.0 T 0.0 T Pathogenic 6_150210685_C->T 6 150210685 150210685 C T snp 2851.77 0/1 99 221 94 127 0.57 exonic rs9383921 RAET1E AU nonsynonymous SNV NM_001243325 exon3 c.G313A p.A105T 0.469249 0.8859 0.334461 0.4392 0.8837 0.21 T 0.0 P -1.061 T 0.064 T 0.008 T Pathogenic 6_150210723_C->T 6 150210723 150210723 C T snp 1989.77 0/1 99 141 63 78 0.55 exonic rs6925151 RAET1E AU nonsynonymous SNV NM_001243325 exon3 c.G275A p.R92H 0.320088 0.3343 0.299016 0.2833 0.3332 0.22 T 0.0 P -1.097 T 0.566 P 0.097 P Pathogenic 6_150210802_A->G 6 150210802 150210802 A G snp 908.77 0/1 99 58 25 33 0.57 ncRNA_intronic rs6933882 RAET1E-AS1 AU 0.546326 0.8859 0.419883 0.4612 0.8822 Uncertain 6_150210994_T->C 6 150210994 150210994 T C snp 179.77 0/1 99 24 16 8 0.33 ncRNA_intronic rs6939761 RAET1E-AS1 AU 0.546326 0.8859 0.420652 0.4630 0.8833 Uncertain 6_150210999_G->C 6 150210999 150210999 G C snp 172.77 0/1 99 25 17 8 0.32 ncRNA_intronic rs3823021 RAET1E-AS1 AU 0.546326 0.8859 0.420268 0.4636 0.8834 Uncertain 6_150211100_T->C 6 150211100 150211100 T C snp 711.77 0/1 99 65 38 27 0.42 exonic rs3798763 RAET1E AU synonymous SNV NM_001243325 exon2 c.A159G p.E53E 0.224042 0.3333 0.195833 0.2548 0.3345 Uncertain 6_150211123_A->T 6 150211123 150211123 A T snp 882.77 0/1 99 78 44 34 0.44 exonic rs2151910 RAET1E AU nonsynonymous SNV NM_001243325 exon2 c.T136A p.Y46N 0.873403 0.9524 0.820314 0.7855 0.9415 1 T 0.0 P -0.967 T 0.0 T 0.0 T Pathogenic 6_150211828_T->C 6 150211828 150211828 T C snp 65.77 0/1 94 10 7 3 0.3 ncRNA_intronic rs4869764 RAET1E-AS1 AU 0.546326 0.8859 Uncertain 6_150262994_T->C 6 150262994 150262994 T C snp 31.77 0/1 60 10 7 3 0.3 upstream rs4594959 ULBP2 AU 0.202676 0.3373 Uncertain 6_150263030_G->A 6 150263030 150263030 G A snp 660.77 0/1 99 48 25 23 0.48 upstream rs74642874 ULBP2 AU 0.173922 0.3373 Uncertain 6_150263083_T->G 6 150263083 150263083 T G snp 2042.77 0/1 99 156 75 81 0.52 UTR5 rs17079081 ULBP2 AU 0.169728 0.3383 Uncertain 6_150263119_G->A 6 150263119 150263119 G A snp 2807.77 0/1 99 245 121 124 0.51 UTR5 rs17079083 ULBP2 AU 0.133986 0.3373 Uncertain 6_150263186_A->C 6 150263186 150263186 A C snp 6867.77 1/1 99 248 0 248 1.0 UTR5 rs4343924 ULBP2 AU 0.990615 1 0.976780 0.9799 1 Uncertain 6_150263333_G->A 6 150263333 150263333 G A snp 330.77 0/1 99 27 14 13 0.48 intronic rs17079087 ULBP2 AU NM_025217 exon1 c.85+40G>A 0.171725 0.3383 0.076142 0.1036 0.3494 Uncertain 6_150263339_A->G 6 150263339 150263339 A G snp 341.77 0/1 99 23 11 12 0.52 intronic rs78097417 ULBP2 AU NM_025217 exon1 c.85+46A>G 0.171725 0.3383 0.067220 0.1012 0.3473 Uncertain 6_150267478_T->C 6 150267478 150267478 T C snp 2025.77 0/1 99 154 74 80 0.52 intronic rs7764321 ULBP2 AU NM_025217 exon3 c.4299-29T>C 0.146366 0.3373 0.048519 0.0885 0.3442 Uncertain 6_150267527_A->C 6 150267527 150267527 A C snp 7330.77 1/1 99 250 3 247 0.99 exonic rs2282235 ULBP2 AU synonymous SNV NM_025217 exon3 c.A369C p.A123A 0.692292 0.8046 0.5951 0.8237 Uncertain 6_150268533_A->C 6 150268533 150268533 A C snp 204.77 0/1 99 201 147 54 0.27 exonic rs146872141 ULBP2 AU nonsynonymous SNV NM_025217 exon4 c.A709C p.I237L 0.132588 0.3383 0.007542 0.1116 0.3849 0 D 0.0 P -0.927 T 0.028 T 0.002 T Pathogenic 6_150269778_A->G 6 150269778 150269778 A G snp 1610.77 0/1 99 114 46 68 0.6 intronic rs6940581 ULBP2 AU NM_025217 exon5 c.6650-80A>G 0.389377 0.374 Uncertain 6_150285302_G->A 6 150285302 150285302 G A snp 858.77 0/1 99 100 62 38 0.38 intronic rs74844020 ULBP1 AU NM_025218 exon1 c.85+32G>A 0.134185 0.3462 0.036060 0.0851 0.3493 Uncertain 6_150285382_GAAC->- 6 150285382 150285385 GAAC - indel 640.73 0/1 99 31 14 17 0.55 intronic rs138505973 ULBP1 AU NM_025218 exon1 c.85+112_85+115delGAAC 0.21266 0.3462 Uncertain 6_150290090_T->G 6 150290090 150290090 T G snp 835.77 0/1 99 56 23 33 0.59 intronic rs77852780 ULBP1 AU NM_025218 exon2 c.4821+84T>G 0.0764776 0.2649 Uncertain 6_150322211_C->T 6 150322211 150322211 C T snp 2463.77 1/1 99 82 1 81 0.99 ncRNA_exonic rs9397541 RAET1K AU 0.577875 0.4911 Uncertain 6_150322381_T->A 6 150322381 150322381 T A snp 286.77 0/1 99 24 14 10 0.42 ncRNA_exonic rs9384023 RAET1K AU 0.395966 0.2222 Uncertain 6_150341918_C->T 6 150341918 150341918 C T snp 34.78 0/1 27 4 2 2 0.5 intronic rs561467 RAET1L AU NM_130900 exon2 c.775-122C>T 0.367212 0.2341 Uncertain 6_150341990_A->G 6 150341990 150341990 A G snp 1126.77 0/1 99 96 54 42 0.44 intronic rs9397120 RAET1L AU NM_130900 exon2 c.775-50A>G 0.698882 0.4732 0.801615 0.7842 0.4724 Uncertain 6_150341993_C->A 6 150341993 150341993 C A snp 1259.77 0/1 99 102 57 45 0.44 intronic rs9384047 RAET1L AU NM_130900 exon2 c.775-47C>A 0.75599 0.4762 0.844918 0.8154 0.4726 Uncertain 6_150342396_G->C 6 150342396 150342396 G C snp 498.77 0/1 99 75 53 22 0.29 intronic rs9479414 RAET1L AU NM_130900 exon2 c.1057+74G>C 0.458866 0.2361 Uncertain 6_150343211_A->G 6 150343211 150343211 A G snp 611.77 0/1 99 112 67 45 0.4 exonic rs912565 RAET1L AU nonsynonymous SNV NM_130900 exon2 c.T254C p.M85T 0.1557 0.0348 0.12 T 0.0 P -0.911 T 0.001 T 0.0 T Pathogenic 6_150346740_A->G 6 150346740 150346740 A G snp 767.77 1/1 57 25 0 25 1.0 upstream rs1544123 RAET1L AU 0.988019 1 Uncertain 6_150385730_T->G 6 150385730 150385730 T G snp 1578.77 0/1 99 93 38 55 0.59 downstream rs912558 ULBP3 AU 0.367212 0.4107 0.347147 0.3765 0.3856 0.02 T 0.0 P -1.019 T Uncertain 6_150385977_C->T 6 150385977 150385977 C T snp 976.77 0/1 99 68 28 40 0.59 intronic rs912557 ULBP3 AU NM_024518 exon1 c.107+128C>T 0.366613 0.4107 Uncertain 6_150387302_A->T 6 150387302 150387302 A T snp 3705.77 1/1 99 145 2 143 0.99 splicing rs669009 ULBP3 AU NM_024518 exon3 c.1556+4A>T 0.839457 0.7044 0.889513 0.8564 0.7126 Pathogenic 6_150387312_A->G 6 150387312 150387312 A G snp 3704.77 1/1 99 137 1 136 0.99 intronic rs6935471 ULBP3 AU NM_024518 exon3 c.1556+14A>G 0.839457 0.7044 0.891896 0.8560 0.7107 Uncertain 6_150390313_G->C 6 150390313 150390313 G C snp 1544.77 1/1 99 51 0 51 1.0 upstream rs622317 ULBP3 AU 0.835463 0.7034 Uncertain 6_150464356_A->G 6 150464356 150464356 A G snp 187.77 0/1 99 15 7 8 0.53 exonic rs2297672 PPP1R14C AU nonsynonymous SNV NM_030949 exon1 c.A28G p.T10A 0.609026 0.8571 0.5472 0.8333 1 T 0.000 P -0.961 T 0.0 T 0.0 T Pathogenic 6_150691357_G->T 6 150691357 150691357 G T snp 162.84 0/1 18 6 1 5 0.83 intronic rs612200 IYD AR NM_001164695 exon1 c.178+1012G>T 0.69349 0.6558 Uncertain 6_150713769_C->T 6 150713769 150713769 C T snp 119.77 0/1 99 8 4 4 0.5 intronic rs672766 IYD AR NM_001164695 exon3 c.23473+129C>T 0.294129 0.2262 Uncertain 6_150716696_T->C 6 150716696 150716696 T C snp 1262.77 0/1 99 100 48 52 0.52 intronic rs612421 IYD AR NM_001164694 exon5 c.26535-6T>C 0.872005 0.7946 0.920937 0.8615 0.7976 0.05 T 0.000 P -0.894 T 0.0 T 0.0 T Uncertain 6_150921026_T->C 6 150921026 150921026 T C snp 46.77 0/1 36 4 2 2 0.5 UTR5 PLEKHG1 AU Uncertain 6_151107823_G->C 6 151107823 151107823 G C snp 40.77 0/1 33 3 1 2 0.67 intronic rs186993853 PLEKHG1 AU NM_001029884 exon5 c.52778+228G>C 0.000399361 0.002 Uncertain 6_151121760_T->C 6 151121760 151121760 T C snp 838.77 0/1 99 49 22 27 0.55 intronic rs2073062 PLEKHG1 AU NM_001029884 exon7 c.67037-94T>C 0.483427 0.6032 Uncertain 6_151121915_G->A 6 151121915 151121915 G A snp 4348.77 1/1 99 165 0 165 1.0 exonic rs2073061 PLEKHG1 AU synonymous SNV NM_001029884 exon7 c.G690A p.E230E 0.652756 0.8046 0.566815 0.5433 0.8352 Uncertain 6_151125724_C->A 6 151125724 151125724 C A snp 459.77 0/1 99 55 33 22 0.4 intronic rs803432 PLEKHG1 AU NM_001029884 exon8 c.70928-21C>A 0.386581 0.4097 0.2714 0.2211 Uncertain 6_151125896_G->A 6 151125896 151125896 G A snp 607.77 0/1 99 38 16 22 0.58 intronic rs712218 PLEKHG1 AU NM_001029884 exon8 c.71060+19G>A 0.515176 0.5823 0.493849 0.5036 0.5725 Uncertain 6_151152257_A->G 6 151152257 151152257 A G snp 2282.77 0/1 99 173 81 92 0.53 exonic rs926624 PLEKHG1 AU synonymous SNV NM_001029884 exon16 c.A2010G p.K670K 0.269768 0.381 0.244041 0.3172 0.3905 Uncertain 6_151152656_T->C 6 151152656 151152656 T C snp 2642.77 0/1 99 177 75 102 0.58 exonic rs803411 PLEKHG1 AU synonymous SNV NM_001029884 exon16 c.T2409C p.T803T 0.63738 0.5397 0.694679 0.7063 0.5327 Uncertain 6_151187349_C->G 6 151187349 151187349 C G snp 394.77 0/1 99 39 21 18 0.46 intronic rs9397361 MTHFD1L AU NM_001242767 exon1 c.227+164C>G 0.536941 0.4236 Uncertain 6_151198895_T->C 6 151198895 151198895 T C snp 1264.77 0/1 99 125 64 61 0.49 intronic rs2073064 MTHFD1L AU NM_001242767 exon4 c.11950-13T>C 0.20627 0.2113 0.187606 0.1652 0.2198 Uncertain 6_151199071_A->G 6 151199071 151199071 A G snp 239.77 0/1 99 13 4 9 0.69 intronic rs2073063 MTHFD1L AU NM_001242767 exon4 c.12004+109A>G 0.498003 0.4464 Uncertain 6_151220245_A->G 6 151220245 151220245 A G snp 257.8 1/1 21 10 0 10 1.0 intronic rs803419 MTHFD1L AU NM_001242769 exon8 c.33178+109A>G 0.654952 0.8244 Uncertain 6_151227086_G->A 6 151227086 151227086 G A snp 46.74 1/1 6 2 0 2 1.0 intronic rs711879 MTHFD1L AU NM_001242767 exon8 c.39939+189G>A 0.385783 0.623 Uncertain 6_151247439_A->G 6 151247439 151247439 A G snp 2050.77 1/1 99 71 0 71 1.0 intronic rs803455 MTHFD1L AU NM_001242767 exon11 c.60473+8A>G 0.93111 0.88 0.951715 0.9295 0.8993 Uncertain 6_151258110_G->T 6 151258110 151258110 G T snp 694.77 0/1 99 63 32 31 0.49 intronic rs2073189 MTHFD1L AU NM_001242767 exon12 c.71118+34G>T 0.1873 0.497 0.050284 0.1192 0.4783 Uncertain 6_151258127_G->A 6 151258127 151258127 G A snp 519.77 0/1 99 53 28 25 0.47 intronic rs742830 MTHFD1L AU NM_001242767 exon12 c.71118+51G>A 0.537141 0.5387 0.399585 0.4098 0.5019 Uncertain 6_151260090_C->G 6 151260090 151260090 C G snp 113.77 0/1 99 10 6 4 0.4 intronic rs3734417 MTHFD1L AU NM_001242767 exon13 c.72923+209C>G 0.187101 0.495 Uncertain 6_151266504_C->T 6 151266504 151266504 C T snp 467.77 1/1 36 12 0 12 1.0 intronic rs803445 MTHFD1L AU NM_001242767 exon15 c.79644-98C>T 0.803714 0.9623 Uncertain 6_151266564_T->C 6 151266564 151266564 T C snp 1294.77 1/1 93 49 0 49 1.0 intronic rs2073191 MTHFD1L AU NM_001242767 exon15 c.79644-38T>C 0.228235 0.4405 0.181560 0.2502 0.4765 Uncertain 6_151281567_T->C 6 151281567 151281567 T C snp 1829.77 1/1 99 66 0 66 1.0 intronic rs1771798 MTHFD1L AU NM_001242767 exon18 c.94593+16T>C 0.826478 0.877 0.844692 0.8850 0.8862 Uncertain 6_151281707_A->G 6 151281707 151281707 A G snp 436.77 1/1 33 14 0 14 1.0 intronic rs1771796 MTHFD1L AU NM_001242767 exon18 c.94593+156A>G 0.944888 0.9722 Uncertain 6_151286224_A->C 6 151286224 151286224 A C snp 2054.77 0/1 99 220 131 89 0.4 intronic rs1627462 MTHFD1L AU NM_001242767 exon19 c.99215+51A>C 0.485224 0.3601 0.551207 0.5774 0.3510 Uncertain 6_151337686_T->C 6 151337686 151337686 T C snp 31.77 0/1 60 11 9 2 0.18 intronic rs479755 MTHFD1L AU NM_001242767 exon24 c.149871+857T>C 0.180312 0.0982 Uncertain 6_151362896_TTG->- 6 151362896 151362898 TTG - indel 2013.73 0/1 99 82 37 45 0.55 intronic rs140096864 MTHFD1L AU NM_001242767 exon26 c.171295+4643_171295+4645delTTG 0.708781 0.7209 0.3817 Uncertain 6_151362942_T->C 6 151362942 151362942 T C snp 711.77 0/1 99 47 20 27 0.57 intronic rs1983750 MTHFD1L AU NM_001242767 exon26 c.171295+4689T>C 0.641773 0.3522 0.7114 0.3454 0 D 0.0 P -1.032 T Uncertain 6_151665302_T->A 6 151665302 151665302 T A snp 139.03 1/1 12 4 0 4 1.0 intronic rs6941075 AKAP12 AU NM_144497 exon2 c.22850-4543T>A 0.708466 0.5784 Uncertain 6_151669460_AAAA->- 6 151669460 151669463 AAAA - indel 692.73 1/1 35 21 1 20 0.95 intronic rs376944975 AKAP12 AU NM_144497 exon2 c.22850-385_22850-382delAAAA 0.421526 0.4345 0.3966 0.3455 Uncertain 6_151669875_A->G 6 151669875 151669875 A G snp 2067.77 1/1 99 67 0 67 1.0 exonic rs10872670 AKAP12 AU nonsynonymous SNV NM_144497 exon2 c.A55G p.K19E 0.686701 0.5804 0.756805 0.7539 0.6174 1 T 0.0 P -0.957 T 0.001 T 0.0 T Pathogenic 6_151670057_G->A 6 151670057 151670057 G A snp 1339.77 0/1 99 127 70 57 0.45 exonic rs150800093 AKAP12 AU synonymous SNV NM_144497 exon2 c.G237A p.K79K 0.0071885 0.0337 0.0032 0.0425 Uncertain 6_151670172_A->C 6 151670172 151670172 A C snp 2608.77 1/1 99 102 0 102 1.0 exonic rs3734799 AKAP12 AU nonsynonymous SNV NM_144497 exon2 c.A352C p.K118Q 0.54393 0.4593 0.646163 0.6729 0.4821 0.77 T 0.0 P -0.922 T 0.001 T 0.001 T Pathogenic 6_151670897_T->C 6 151670897 151670897 T C snp 3626.77 1/1 99 131 0 131 1.0 exonic rs900654 AKAP12 AU synonymous SNV NM_144497 exon2 c.T1077C p.A359A 0.711062 0.5863 0.784100 0.7525 0.6135 Uncertain 6_151674116_-->GAG 6 151674116 151674116 - GAG indel 13608.7 1/1 99 246 0 246 1.0 exonic rs113116275 AKAP12 AU nonframeshift insertion NM_144497 exon2 c.4296_4297insGAG p.I1432delinsIE 0.703874 0.5863 0.779872 0.7507 0.6114 ID=COSM3724396;OCCURENCE=1(upper_aerodigestive_tract) Uncertain 6_151674326_A->C 6 151674326 151674326 A C snp 4662.77 1/1 99 147 0 147 1.0 exonic rs3823310 AKAP12 AU nonsynonymous SNV NM_144497 exon2 c.A4506C p.E1502D 0.438898 0.4355 0.552514 0.5798 0.4532 0.41 T 0.0 P -0.940 T 0.003 T 0.006 T Pathogenic 6_151686905_C->T 6 151686905 151686905 C T snp 3431.77 0/1 99 249 125 124 0.5 exonic rs11155787 ZBTB2 AU synonymous SNV NM_020861 exon3 c.G1296A p.E432E 0.423922 0.2778 0.554513 0.5488 0.2893 Uncertain 6_151694504_A->G 6 151694504 151694504 A G snp 351.77 0/1 99 26 14 12 0.46 intronic rs9479023 ZBTB2 AU NM_020861 exon2 c.7944-95A>G 0.123203 0.1667 Uncertain 6_151726300_G->C 6 151726300 151726300 G C snp 882.77 1/1 66 30 0 30 1.0 UTR3 rs1065310 RMND1 AR 0.00299521 0.339685 Uncertain 6_151726756_T->C 6 151726756 151726756 T C snp 1231.77 1/1 90 40 0 40 1.0 intronic rs3757314 RMND1 AR NM_017909 exon2 c.485-98T>C 0.472045 0.6974 Uncertain 6_151726829_C->T 6 151726829 151726829 C T snp 2764.77 1/1 99 103 0 103 1.0 intronic rs3757315 RMND1 AR NM_017909 exon2 c.485-25C>T 0.477835 0.7044 0.365908 0.3341 0.6929 Uncertain 6_151742541_T->C 6 151742541 151742541 T C snp 1633.77 1/1 99 55 0 55 1.0 intronic rs4870017 RMND1 AR NM_017909 exon4 c.16087+85T>C 0.98722 0.999 Uncertain 6_151743629_A->C 6 151743629 151743629 A C snp 944.77 1/1 69 34 0 34 1.0 intronic rs6912830 RMND1 AR NM_017909 exon5 c.17306-46A>C 0.630192 0.7421 0.565652 0.5390 0.8027 Uncertain 6_151754273_T->C 6 151754273 151754273 T C snp 6778.77 1/1 99 250 1 249 1.0 intronic rs6904364 RMND1 AR NM_017909 exon9 c.27920-16T>C 0.506789 0.7411 0.416269 0.4434 0.7480 CLINSIG=non-pathogenic;CLNDBN=not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000127782.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Uncertain 6_151766397_G->A 6 151766397 151766397 G A snp 3828.77 1/1 99 144 0 144 1.0 intronic rs73783025 RMND1 AR NM_017909 exon11 c.40073-45G>A 0.11262 0.1538 0.078890 0.0689 0.1608 Uncertain 6_151773504_T->C 6 151773504 151773504 T C snp 2192.77 1/1 99 70 0 70 1.0 UTR5 rs13201167 ARMT1 AU 0.63139 0.7669 Uncertain 6_151773831_C->T 6 151773831 151773831 C T snp 628.77 1/1 48 19 0 19 1.0 intronic rs111270458 ARMT1 AU NM_024573 exon1 c.41+110C>T 0.110823 0.1577 Uncertain 6_151785551_A->G 6 151785551 151785551 A G snp 1060.77 1/1 78 39 0 39 1.0 intronic rs17081270 ARMT1 AU NM_001286562 exon3 c.5915-36A>G 0.113019 0.1577 0.082127 0.0777 0.1800 Uncertain 6_151857370_T->C 6 151857370 151857370 T C snp 2711.77 1/1 99 90 0 90 1.0 intronic rs1532401 CCDC170 AU NM_025059 exon2 c.42189-82T>C 0.58766 0.7133 Uncertain 6_151859146_-->TT 6 151859146 151859146 - TT indel 721.73 1/1 47 29 1 28 0.97 intronic rs35795489 CCDC170 AU NM_025059 exon3 c.43916-33insTT 0.1326 0.3142 Uncertain 6_151859314_A->G 6 151859314 151859314 A G snp 4776.77 1/1 99 176 0 176 1.0 exonic rs4870034 CCDC170 AU synonymous SNV NM_025059 exon3 c.A321G p.E107E 0.60024 0.7143 0.587492 0.6865 0.7144 Uncertain 6_151869725_-->T 6 151869725 151869725 - T indel 487.73 1/1 51 22 0 22 1.0 intronic rs3842129 CCDC170 AU NM_025059 exon5 c.54361+101insT 0.598243 0.7133 Uncertain 6_151894278_G->T 6 151894278 151894278 G T snp 703.77 1/1 51 25 0 25 1.0 intronic rs4242277 CCDC170 AU NM_025059 exon6 c.79045-30G>T 0.940695 0.996 0.910297 0.9059 0.9957 Uncertain 6_151894505_T->C 6 151894505 151894505 T C snp 3553.77 1/1 99 131 0 131 1.0 exonic rs953767 CCDC170 AU nonsynonymous SNV NM_025059 exon6 c.T971C p.F324S 0.941693 0.996 0.913667 0.9073 0.9957 0.7 T 0.0 P -0.926 T 0.0 T 0.0 T Pathogenic 6_151914421_A->G 6 151914421 151914421 A G snp 3492.77 1/1 99 127 1 126 0.99 splicing rs9383930 CCDC170 AU NM_025059 exon8 c.99152+6A>G 0.58107 0.8333 0.430511 0.3930 0.8361 Pathogenic 6_151917439_A->- 6 151917439 151917439 A - indel 840.73 0/1 99 66 30 36 0.55 intronic rs375337014 CCDC170 AU NM_025059 exon9 c.102206-30delA 0.036545 0.0309 0.1349 Uncertain 6_152129077_T->C 6 152129077 152129077 T C snp 2416.77 0/1 99 250 146 104 0.42 exonic rs2077647 ESR1 AR,AD,AU synonymous SNV NM_000125 exon1 c.T30C p.S10S 0.466454 0.378 0.478856 0.4654 0.3633 Uncertain 6_152201875_T->C 6 152201875 152201875 T C snp 2680.77 1/1 99 94 0 94 1.0 exonic rs4986934 ESR1 AR,AD,AU synonymous SNV NM_000125 exon3 c.T729C p.R243R 0.985623 1 0.970783 0.9707 0.9997 1.0 P -1.062 T Likely benign 6_152265522_G->C 6 152265522 152265522 G C snp 1980.77 0/1 99 145 65 80 0.55 exonic rs1801132 ESR1 AR,AD,AU synonymous SNV NM_000125 exon4 c.G975C p.P325P 0.717652 0.498 0.814393 0.7362 0.5101 1.000 P -0.988 T ID=CM016108;DIS=Lower femoral neck BMD, association with;TAG=DP;PUB=11530279 DP Likely benign 6_152381998_T->C 6 152381998 152381998 T C snp 83.77 0/1 30 4 1 3 0.75 intronic rs9341016 ESR1 AR,AD,AU NM_001122741 exon7 c.253078-127T>C 0.0786741 0.12 Uncertain 6_152443468_G->T 6 152443468 152443468 G T snp 196.77 0/1 43 9 3 6 0.67 UTR3 rs2250122 SYNE1 AR,AD 0.245208 0.3056 Uncertain 6_152453328_C->T 6 152453328 152453328 C T snp 810.77 0/1 99 75 40 35 0.47 exonic SYNE1 AR,AD nonsynonymous SNV NM_033071 exon144 c.G25879A p.A8627T 0.18 T 1 D -0.779 T 0.999 D 0.97 D Pathogenic 6_152456475_A->G 6 152456475 152456475 A G snp 41.77 0/1 70 4 2 2 0.5 intronic rs3818109 SYNE1 AR,AD NM_033071 exon5 c.12797+108A>G 0.501597 0.3829 Uncertain 6_152458074_G->A 6 152458074 152458074 G A snp 255.77 0/1 99 21 13 8 0.38 intronic rs2813566 SYNE1 AR,AD NM_033071 exon6 c.14383+121G>A 0.355831 0.3175 Uncertain 6_152461061_G->A 6 152461061 152461061 G A snp 129.77 0/1 99 13 8 5 0.38 intronic rs3818110 SYNE1 AR,AD NM_033071 exon7 c.17514-23G>A 0.444489 0.2966 0.439259 0.4023 0.2926 Uncertain 6_152462173_AAAC->- 6 152462173 152462176 AAAC - indel 421.73 0/1 99 18 10 8 0.44 intronic rs140264845 SYNE1 AR,AD NM_033071 exon8 c.18767-164_18767-161delAAAC 0.401957 0.2937 Uncertain 6_152464839_A->G 6 152464839 152464839 A G snp 4698.77 1/1 99 167 0 167 1.0 exonic rs2256135 SYNE1 AR,AD synonymous SNV NM_033071 exon138 c.T24894C p.R8298R 0.689696 0.6865 0.623481 0.6109 0.7003 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000118470.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 6_152466578_A->C 6 152466578 152466578 A C snp 630.77 0/1 99 56 28 28 0.5 intronic rs74709220 SYNE1 AR,AD NM_033071 exon10 c.23051-43A>C 0.0567093 0.128 0.003691 0.0321 0.1230 Uncertain 6_152466582_A->G 6 152466582 152466582 A G snp 615.77 0/1 99 61 32 29 0.48 intronic rs2813487 SYNE1 AR,AD NM_033071 exon10 c.23051-39A>G 0.381589 0.2073 0.375442 0.3618 0.3012 Uncertain 6_152466674_T->C 6 152466674 152466674 T C snp 984.77 0/1 99 122 72 50 0.41 exonic rs2747662 SYNE1 AR,AD synonymous SNV NM_033071 exon137 c.A24780G p.E8260E 0.366214 0.2976 0.335922 0.3452 0.2955 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000118469.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 6_152466886_A->G 6 152466886 152466886 A G snp 176.9 1/1 15 5 0 5 1.0 intronic rs2813488 SYNE1 AR,AD NM_033071 exon10 c.23120+196A>G 0.659545 0.6845 Uncertain 6_152469188_C->G 6 152469188 152469188 C G snp 2546.77 0/1 99 194 86 108 0.56 exonic rs2252755 SYNE1 AR,AD nonsynonymous SNV NM_033071 exon136 c.G24755C p.G8252A 0.399361 0.2986 0.373597 0.3592 0.2989 0.33 T 0.100 P -1.079 T 0.696 T 0.338 P CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000118468.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 6_152469331_C->T 6 152469331 152469331 C T snp 2402.77 0/1 99 204 105 99 0.49 exonic rs2252748 SYNE1 AR,AD synonymous SNV NM_033071 exon136 c.G24612A p.P8204P 0.339457 0.2976 0.300938 0.3130 0.2942 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000118467.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 6_152489038_T->C 6 152489038 152489038 T C snp 7847.77 1/1 99 250 1 249 1.0 ncRNA_intronic rs997769 MIR3163 AU 0.717851 0.876 0.606242 0.6711 0.8646 Uncertain 6_152489294_T->C 6 152489294 152489294 T C snp 5179.77 1/1 99 179 0 179 1.0 ncRNA_intronic rs998147 MIR3163 AU 0.867013 0.8889 0.857221 0.8278 0.8768 0.66 T 1.000 P -0.952 T Uncertain 6_152497782_C->T 6 152497782 152497782 C T snp 388.77 0/1 99 32 20 12 0.38 ncRNA_intronic rs2635440 MIR3163 AU 0.220248 0.2847 Uncertain 6_152497815_A->G 6 152497815 152497815 A G snp 104.77 0/1 99 12 8 4 0.33 ncRNA_intronic rs2813507 MIR3163 AU 0.220248 0.2847 Uncertain 6_152510573_G->A 6 152510573 152510573 G A snp 930.77 0/1 99 78 35 43 0.55 ncRNA_intronic rs2635460 MIR3163 AU 0.0680911 0.0843 0.048362 0.0349 0.1116 Uncertain 6_152522812_T->G 6 152522812 152522812 T G snp 594.77 0/1 99 48 25 23 0.48 ncRNA_intronic rs2673776 MIR3163 AU 0.628594 0.626 Uncertain 6_152523143_G->A 6 152523143 152523143 G A snp 201.78 0/1 24 9 2 7 0.78 ncRNA_intronic rs2635441 MIR3163 AU 0.645567 0.626 Uncertain 6_152529260_G->A 6 152529260 152529260 G A snp 1165.77 0/1 99 130 76 54 0.42 exonic rs3798756 SYNE1 AR,AD synonymous SNV NM_033071 exon124 c.C22458T p.I7486I 0.155152 0.2133 0.128940 0.1437 0.2283 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000118463.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 6_152534946_T->A 6 152534946 152534946 T A snp 1028.77 1/1 75 31 0 31 1.0 ncRNA_intronic rs684807 MIR3163 AU 0.997005 1 0.992574 0.9936 1 Uncertain 6_152539350_C->G 6 152539350 152539350 C G snp 1392.77 1/1 99 49 0 49 1.0 ncRNA_intronic rs9371243 MIR3163 AU 0.279153 0.5347 0.186683 0.2599 0.5762 Uncertain 6_152539573_A->- 6 152539573 152539573 A - indel 1236.73 1/1 99 61 1 60 0.98 ncRNA_intronic rs35809482 MIR3163 AU 0.404952 0.4772 0.5105 0.7200 Uncertain 6_152540278_A->C 6 152540278 152540278 A C snp 1680.77 1/1 99 63 0 63 1.0 exonic rs2147377 SYNE1 AR,AD nonsynonymous SNV NM_033071 exon119 c.T21691G p.F7231V 0.995607 1 0.993080 0.9923 1 0.55 T 0.000 P -0.974 T 0.0 T 0.0 T CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000118459.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 6_152542234_G->T 6 152542234 152542234 G T snp 1367.77 1/1 99 41 0 41 1.0 ncRNA_intronic rs9397492 MIR3163 AU 0.389377 0.5486 Uncertain 6_152542548_A->G 6 152542548 152542548 A G snp 1560.77 1/1 99 56 0 56 1.0 ncRNA_intronic rs9383976 MIR3163 AU 0.337859 0.5367 0.257189 0.2805 0.5778 Uncertain 6_152546740_G->A 6 152546740 152546740 G A snp 599.77 1/1 45 17 0 17 1.0 intronic rs1998620 SYNE1 AR,AD NM_033071 exon32 c.103285-115G>A 0.54393 0.7361 Uncertain 6_152552375_G->A 6 152552375 152552375 G A snp 1013.77 1/1 75 28 0 28 1.0 intronic rs2274142 SYNE1 AR,AD NM_033071 exon34 c.108955-150G>A 0.664137 0.7827 Uncertain 6_152555112_C->T 6 152555112 152555112 C T snp 2217.77 1/1 99 80 0 80 1.0 intronic rs2296254 SYNE1 AR,AD NM_033071 exon36 c.111528+14C>T 0.208866 0.2401 0.168768 0.2374 0.2240 Uncertain 6_152558111_-->A 6 152558111 152558111 - A indel 805.73 1/1 78 30 0 30 1.0 intronic rs36215566 SYNE1 AR,AD NM_033071 exon39 c.114513+28insA 0.210264 0.2381 0.2356 0.2224 Uncertain 6_152560478_C->A 6 152560478 152560478 C A snp 471.77 1/1 36 12 0 12 1.0 intronic rs4869757 SYNE1 AR,AD NM_033071 exon40 c.117097-189C>A 0.785543 0.8948 Uncertain 6_152560916_G->A 6 152560916 152560916 G A snp 425.77 1/1 33 12 0 12 1.0 intronic rs9479275 SYNE1 AR,AD NM_033071 exon40 c.117271+75G>A 0.306709 0.3383 Uncertain 6_152565897_T->C 6 152565897 152565897 T C snp 523.77 1/1 39 15 0 15 1.0 intronic rs3888239 SYNE1 AR,AD NM_033071 exon42 c.122221+106T>C 0.594449 0.752 Uncertain 6_152570415_G->A 6 152570415 152570415 G A snp 4428.77 1/1 99 162 0 162 1.0 intronic rs6557210 SYNE1 AR,AD NM_033071 exon43 c.126827+18G>A 0.680711 0.879 0.623885 0.6578 0.8956 Uncertain 6_152599597_T->A 6 152599597 152599597 T A snp 216.84 1/1 18 7 0 7 1.0 intronic rs9397498 SYNE1 AR,AD NM_033071 exon50 c.155845+182T>A 0.267772 0.4772 Uncertain 6_152629815_C->T 6 152629815 152629815 C T snp 135.03 1/1 12 5 0 5 1.0 intronic rs4112833 SYNE1 AR,AD NM_182961 exon56 c.186197+48C>T 0.884784 0.9841 0.834433 0.8398 0.9888 Uncertain 6_152632033_G->A 6 152632033 152632033 G A snp 2353.77 1/1 99 73 0 73 1.0 intronic rs1538 SYNE1 AR,AD NM_033071 exon60 c.188438+25G>A 0.0443291 0.1339 0.019763 0.0398 0.1576 Uncertain 6_152638209_A->G 6 152638209 152638209 A G snp 141.03 1/1 12 5 0 5 1.0 intronic rs1890100 SYNE1 AR,AD NM_033071 exon61 c.194551+88A>G 0.859225 0.9633 Uncertain 6_152638239_T->C 6 152638239 152638239 T C snp 56.74 1/1 6 2 0 2 1.0 intronic rs931423 SYNE1 AR,AD NM_033071 exon61 c.194551+118T>C 0.851637 0.9633 Uncertain 6_152640110_G->A 6 152640110 152640110 G A snp 2444.77 0/1 99 204 99 105 0.51 exonic rs2306914 SYNE1 AR,AD nonsynonymous SNV NM_033071 exon84 c.C16064T p.T5355M 0.0463259 0.1419 0.019991 0.0394 0.1635 0.13 T 1.000 P -1.022 T 0.004 T 0.002 T CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000118450.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 6_152640248_G->T 6 152640248 152640248 G T snp 646.77 0/1 99 42 21 21 0.5 intronic rs2306915 SYNE1 AR,AD NM_033071 exon63 c.196580+98G>T 0.240815 0.5536 Uncertain 6_152643178_C->G 6 152643178 152643178 C G snp 313.77 0/1 99 24 14 10 0.42 intronic rs13192881 SYNE1 AR,AD NM_033071 exon65 c.199451+157C>G 0.200479 0.5278 Uncertain 6_152644476_A->C 6 152644476 152644476 A C snp 46.74 1/1 6 2 0 2 1.0 intronic rs12206044 SYNE1 AR,AD NM_033071 exon66 c.201042-136A>C 0.49361 0.8343 Uncertain 6_152646279_G->C 6 152646279 152646279 G C snp 1765.77 0/1 99 154 78 76 0.49 exonic rs9383987 SYNE1 AR,AD synonymous SNV NM_033071 exon80 c.C15384G p.A5128A 0.0623003 0.1419 0.035291 0.0443 0.1592 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000118449.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 6_152647681_A->T 6 152647681 152647681 A T snp 4130.77 1/1 99 145 0 145 1.0 exonic rs2306916 SYNE1 AR,AD nonsynonymous SNV NM_033071 exon78 c.T14830A p.L4944M 0.814696 0.8492 0.810472 0.7797 0.8384 0.35 T 1.000 P -0.977 T 0.015 T 0.02 T CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000118448.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 6_152652034_A->T 6 152652034 152652034 A T snp 4975.77 1/1 99 155 0 155 1.0 exonic rs6911096 SYNE1 AR,AD nonsynonymous SNV NM_033071 exon77 c.T13573A p.S4525T 0.803315 0.8591 0.795863 0.7760 0.8461 0.5 T 0.000 P -1.024 T 0.0 T 0.001 T CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000118444.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 6_152653037_T->C 6 152653037 152653037 T C snp 1449.77 0/1 99 111 55 56 0.5 intronic rs9478314 SYNE1 AR,AD NM_033071 exon70 c.209455+12T>C 0.413139 0.1319 0.486295 0.4608 0.1624 Uncertain 6_152658142_T->C 6 152658142 152658142 T C snp 3075.77 1/1 99 107 0 107 1.0 exonic rs9479297 SYNE1 AR,AD nonsynonymous SNV NM_033071 exon75 c.A12149G p.K4050R 0.793131 0.8631 0.788175 0.7547 0.8544 1 T 1.000 P -0.969 T 0.0 T 0.0 T CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000118439.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 6_152658191_T->C 6 152658191 152658191 T C snp 2113.77 1/1 99 77 0 77 1.0 intronic rs9479298 SYNE1 AR,AD NM_033071 exon72 c.214582+39T>C 0.790136 0.8631 0.800630 0.7584 0.8580 Uncertain 6_152658216_A->G 6 152658216 152658216 A G snp 558.77 0/1 99 43 21 22 0.51 intronic rs9479299 SYNE1 AR,AD NM_033071 exon72 c.214582+64A>G 0.242212 0.1329 Uncertain 6_152660310_A->G 6 152660310 152660310 A G snp 590.77 0/1 99 39 18 21 0.54 intronic rs4870095 SYNE1 AR,AD NM_033071 exon73 c.216805-65A>G 0.157149 0.0446 Uncertain 6_152665261_C->A 6 152665261 152665261 C A snp 838.77 0/1 99 76 38 38 0.5 exonic rs4645434 SYNE1 AR,AD nonsynonymous SNV NM_033071 exon73 c.G11967T p.E3989D 0.545527 0.6488 0.567277 0.5761 0.6419 0.66 T 0.999 P -0.976 T 0.203 T 0.054 T CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000118437.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 ID=COSM42924;OCCURENCE=2(central_nervous_system),1(urinary_tract),1(large_intestine),1(skin) Pathogenic 6_152665465_C->- 6 152665465 152665465 C - indel 323.73 0/1 99 21 8 13 0.62 intronic rs35003170 SYNE1 AR,AD NM_033071 exon74 c.221792+103delC 0.546126 0.6488 Uncertain 6_152671475_A->C 6 152671475 152671475 A C snp 2506.77 0/1 99 205 92 113 0.55 intronic rs9478320 SYNE1 AR,AD NM_182961 exon75 c.227900+5A>C 0.58746 0.6171 0.596186 0.5846 0.6085 Uncertain 6_152671553_A->G 6 152671553 152671553 A G snp 1355.77 0/1 99 115 59 56 0.49 intronic rs9478321 SYNE1 AR,AD NM_182961 exon75 c.227900+83A>G 0.589657 0.619 Uncertain 6_152671919_-->A 6 152671919 152671919 - A indel 993.73 0/1 99 120 60 60 0.5 intronic rs397779868 SYNE1 AR,AD NM_033071 exon76 c.228335+14insA 0.56889 0.6161 0.579712 0.5746 0.6032 Uncertain 6_152671975_A->G 6 152671975 152671975 A G snp 624.77 0/1 99 50 27 23 0.46 intronic rs1387549 SYNE1 AR,AD NM_033071 exon76 c.228335+70A>G 0.571286 0.6161 Uncertain 6_152672031_T->C 6 152672031 152672031 T C snp 210.77 0/1 99 16 9 7 0.44 intronic rs9478322 SYNE1 AR,AD NM_033071 exon76 c.228335+126T>C 0.571486 0.6161 Uncertain 6_152673147_G->A 6 152673147 152673147 G A snp 276.77 0/1 99 25 14 11 0.44 intronic rs6908392 SYNE1 AR,AD NM_033071 exon77 c.229591-14G>A 0.565895 0.6161 0.578272 0.5790 0.6060 Uncertain 6_152673519_A->C 6 152673519 152673519 A C snp 373.77 0/1 99 21 9 12 0.57 intronic rs6932325 SYNE1 AR,AD NM_033071 exon77 c.229918+31A>C 0.567492 0.6151 0.579603 0.5796 0.6063 Uncertain 6_152675854_A->G 6 152675854 152675854 A G snp 2996.77 0/1 99 250 137 113 0.45 splicing rs9397102 SYNE1 AR,AD NM_033071 exon80 c.232289-5A>G 0.568291 0.6171 0.581193 0.5799 0.6100 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000118433.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 6_152683183_G->T 6 152683183 152683183 G T snp 182.77 0/1 99 13 7 6 0.46 intronic rs7771657 SYNE1 AR,AD NM_033071 exon83 c.239734-121G>T 0.557508 0.6151 Uncertain 6_152683199_G->A 6 152683199 152683199 G A snp 333.77 0/1 99 26 15 11 0.42 intronic rs7771662 SYNE1 AR,AD NM_033071 exon83 c.239734-105G>A 0.552117 0.6141 Uncertain 6_152683413_G->T 6 152683413 152683413 G T snp 2778.77 1/1 99 103 0 103 1.0 exonic rs4407724 SYNE1 AR,AD synonymous SNV NM_033071 exon64 c.C10212A p.G3404G 0.659145 0.7927 0.648085 0.6541 0.7889 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000118428.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 6_152685821_-->AGGAAGGAAGGAAGGA 6 152685821 152685821 - AGGAAGGAAGGAAGGA indel 719.75 1/1 24 8 0 8 1.0 intronic rs58157377 SYNE1 AR,AD NM_033071 exon84 c.242411-160insAGGAAGGAAGGAAGGA Uncertain 6_152685861_A->G 6 152685861 152685861 A G snp 626.77 0/1 99 46 22 24 0.52 intronic rs9478327 SYNE1 AR,AD NM_033071 exon84 c.242411-120A>G Uncertain 6_152688567_C->T 6 152688567 152688567 C T snp 2757.77 1/1 99 81 0 81 1.0 intronic rs7775637 SYNE1 AR,AD NM_033071 exon85 c.244947+50C>T 0.863618 0.8542 0.932262 0.8738 0.8536 Uncertain 6_152690559_G->A 6 152690559 152690559 G A snp 240.77 0/1 99 22 14 8 0.36 intronic rs1873176 SYNE1 AR,AD NM_033071 exon87 c.247035-46G>A 0.410942 0.4593 0.462786 0.4818 0.4416 Uncertain 6_152694184_T->C 6 152694184 152694184 T C snp 1145.77 0/1 99 106 57 49 0.46 exonic rs6913579 SYNE1 AR,AD synonymous SNV NM_033071 exon59 c.A9516G p.E3172E 0.468251 0.4613 0.528833 0.4993 0.4402 1.000 P -1.013 T CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000118493.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Likely benign 6_152697706_C->T 6 152697706 152697706 C T snp 2760.77 0/1 99 204 85 119 0.58 intronic rs214955 SYNE1 AR,AD NM_033071 exon89 c.254123+13C>T 0.529153 0.5387 0.488313 0.5101 0.5572 Uncertain 6_152707063_C->T 6 152707063 152707063 C T snp 62.77 0/1 91 11 8 3 0.27 intronic rs9478329 SYNE1 AR,AD NM_033071 exon92 c.263403+90C>T 0.357029 0.5308 Uncertain 6_152708310_G->A 6 152708310 152708310 G A snp 3154.77 1/1 99 115 0 115 1.0 exonic rs214950 SYNE1 AR,AD nonsynonymous SNV NM_033071 exon54 c.C8405T p.A2802V 0.249002 0.4018 0.198447 0.2373 0.4186 0.21 T 0.019 P -1.029 T 0.094 T 0.012 T CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000118492.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 6_152711395_T->A 6 152711395 152711395 T A snp 871.77 1/1 63 28 0 28 1.0 intronic rs214943 SYNE1 AR,AD NM_033071 exon94 c.267844-19T>A 0.561901 0.749 0.483315 0.4440 0.7655 Uncertain 6_152719602_G->A 6 152719602 152719602 G A snp 1200.77 1/1 87 34 0 34 1.0 intronic rs488673 SYNE1 AR,AD NM_033071 exon98 c.276183-151G>A 0.465056 0.749 Uncertain 6_152721029_T->C 6 152721029 152721029 T C snp 1234.77 1/1 90 35 0 35 1.0 intronic rs214951 SYNE1 AR,AD NM_033071 exon99 c.277388+71T>C 0.464856 0.749 Uncertain 6_152722228_A->G 6 152722228 152722228 A G snp 1343.77 1/1 99 39 0 39 1.0 intronic rs177330 SYNE1 AR,AD NM_033071 exon100 c.278702-44A>G 0.519768 0.749 0.439462 0.4329 0.7640 Uncertain 6_152725253_C->T 6 152725253 152725253 C T snp 59.74 1/1 6 4 0 4 1.0 intronic rs28402070 SYNE1 AR,AD NM_033071 exon101 c.281777-94C>T 0.370607 0.5139 Uncertain 6_152725471_AACTA->- 6 152725471 152725475 AACTA - indel 320.73 0/1 99 19 13 6 0.32 intronic rs146380883 SYNE1 AR,AD NM_033071 exon101 c.281879+22_281879+26delAACTA 0.071885 0.1954 0.002957 0.0426 0.2210 Uncertain 6_152730091_A->- 6 152730091 152730091 A - indel 45.73 0/1 83 19 12 7 0.37 intronic rs369206657 SYNE1 AR,AD NM_033071 exon103 c.286632-111delA Uncertain 6_152740681_-->A 6 152740681 152740681 - A indel 321.73 0/1 99 44 19 25 0.57 intronic rs34651734 SYNE1 AR,AD NM_033071 exon107 c.297133-22insA 0.35024 0.4038 0.3554 0.4281 Uncertain 6_152751219_TAG->- 6 152751219 152751221 TAG - indel 754.73 0/1 99 33 18 15 0.45 intronic rs71659863 SYNE1 AR,AD NM_033071 exon111 c.307676-27_307676-25delTAG 0.143740 0.2132 0.4719 Uncertain 6_152751426_A->C 6 152751426 152751426 A C snp 224.77 0/1 99 20 9 11 0.55 intronic rs554608 SYNE1 AR,AD NM_033071 exon111 c.307775+81A>C 0.252196 0.376 Uncertain 6_152751558_C->T 6 152751558 152751558 C T snp 2221.77 1/1 99 67 0 67 1.0 intronic rs553642 SYNE1 AR,AD NM_033071 exon112 c.308046-58C>T 0.595847 0.745 Uncertain 6_152756989_AA->- 6 152756989 152756990 AA - indel 545.73 0/1 99 23 10 13 0.57 intronic rs143074359 SYNE1 AR,AD NM_033071 exon114 c.313505-86_313505-85delAA 0.150559 0.3651 Uncertain 6_152768796_T->G 6 152768796 152768796 T G snp 4039.77 1/1 99 151 0 151 1.0 intronic rs502268 SYNE1 AR,AD NM_033071 exon118 c.325187+39T>G 0.597644 0.752 0.524762 0.4841 0.7596 Uncertain 6_152772264_A->G 6 152772264 152772264 A G snp 2242.77 1/1 99 85 0 85 1.0 exonic rs214976 SYNE1 AR,AD nonsynonymous SNV NM_033071 exon26 c.T3125C p.V1042A 0.607228 0.749 0.532523 0.4811 0.7569 0.06 T 1.0 P 0.108 D 0.481 P 0.164 P CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000118478.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 6_152774917_A->G 6 152774917 152774917 A G snp 1051.77 1/1 75 41 0 41 1.0 intronic rs214973 SYNE1 AR,AD NM_033071 exon122 c.331285+62A>G 0.607428 0.749 Uncertain 6_152776750_G->A 6 152776750 152776750 G A snp 1950.77 0/1 99 152 70 82 0.54 intronic rs214968 SYNE1 AR,AD NM_033071 exon123 c.333155+25G>A 0.301518 0.3155 0.273874 0.2580 0.3315 Uncertain 6_152777819_G->A 6 152777819 152777819 G A snp 3943.77 1/1 99 146 1 145 0.99 intronic rs214967 SYNE1 AR,AD NM_033071 exon124 c.333609+640G>A 0.606829 0.747 0.5191 0.7652 0.31 T 0.0 P -1.033 T Uncertain 6_152779714_G->C 6 152779714 152779714 G C snp 334.78 1/1 27 9 0 9 1.0 intronic rs214962 SYNE1 AR,AD NM_033071 exon125 c.336321-177G>C 0.606829 0.747 Uncertain 6_152782628_C->T 6 152782628 152782628 C T snp 1710.77 1/1 99 49 0 49 1.0 intronic rs506181 SYNE1 AR,AD NM_033071 exon126 c.339161-103C>T 0.602436 0.747 Uncertain 6_152782933_G->A 6 152782933 152782933 G A snp 2396.77 1/1 99 78 0 78 1.0 intronic rs579464 SYNE1 AR,AD NM_033071 exon126 c.339305+58G>A 0.602436 0.747 Uncertain 6_152783727_C->A 6 152783727 152783727 C A snp 93.28 1/1 9 3 0 3 1.0 intronic rs67723248 SYNE1 AR,AD NM_033071 exon127 c.340302-145C>A 0.233427 0.3165 Uncertain 6_152784054_G->A 6 152784054 152784054 G A snp 1275.77 0/1 99 104 52 52 0.5 intronic rs7775181 SYNE1 AR,AD NM_033071 exon127 c.340455+29G>A 0.248802 0.4286 0.178764 0.1631 0.4238 Uncertain 6_152784075_C->T 6 152784075 152784075 C T snp 801.77 0/1 99 64 33 31 0.48 intronic rs7776344 SYNE1 AR,AD NM_033071 exon127 c.340455+50C>T 0.248802 0.4286 0.178379 0.1629 0.4227 Uncertain 6_152793376_A->- 6 152793376 152793376 A - indel 504.73 0/1 99 24 8 16 0.67 intronic rs60213252 SYNE1 AR,AD NM_033071 exon132 c.349865-59delA 0.195487 0.4266 Uncertain 6_152793412_C->A 6 152793412 152793412 C A snp 1643.77 1/1 99 61 0 61 1.0 intronic rs4523096 SYNE1 AR,AD NM_033071 exon132 c.349865-23C>A 0.855232 0.9494 0.783023 0.7657 0.9668 Uncertain 6_152793572_T->A 6 152793572 152793572 T A snp 2014.77 1/1 99 67 0 67 1.0 intronic rs4331993 SYNE1 AR,AD NM_033071 exon132 c.349978+24T>A 0.483427 0.745 0.019222 0.3721 0.7002 Uncertain 6_152793575_A->G 6 152793575 152793575 A G snp 1837.56 0/1 7 73 6 67 0.92 intronic rs4343926 SYNE1 AR,AD NM_033071 exon132 c.349978+27A>G 0.602236 0.747 0.257573 0.4729 0.7447 Uncertain 6_152801820_T->G 6 152801820 152801820 T G snp 1729.77 0/1 99 138 66 72 0.52 intronic rs142451860 SYNE1 AR,AD NM_033071 exon133 c.360649-2399T>G 0.00259585 0.0099 Uncertain 6_152805889_C->T 6 152805889 152805889 C T snp 568.77 1/1 42 17 0 17 1.0 intronic rs9397512 SYNE1 AR,AD NM_033071 exon134 c.362399-80C>T 0.602636 0.747 Uncertain 6_152809527_A->T 6 152809527 152809527 A T snp 1450.77 1/1 99 53 0 53 1.0 splicing rs9397106 SYNE1 AR,AD NM_033071 exon135 c.365960-3A>T 0.589257 0.748 0.507235 0.4810 0.7564 Pathogenic 6_152826222_T->A 6 152826222 152826222 T A snp 735.77 1/1 54 24 0 24 1.0 intronic rs9371604 SYNE1 AR,AD NM_033071 exon138 c.382765-113T>A 0.224241 0.4484 Uncertain 6_152847335_G->A 6 152847335 152847335 G A snp 1630.77 1/1 99 56 0 56 1.0 intronic rs2141152 SYNE1 AR,AD NM_033071 exon143 c.403740+25G>A 0.264177 0.4395 0.258419 0.2957 0.4456 Uncertain 6_153293401_A->T 6 153293401 153293401 A T snp 1389.77 0/1 99 135 75 60 0.44 splicing rs188568486 FBXO5 AU NM_012177 exon2 c.1109-5A>T 0.0267572 0.0169 0.003767 0.0139 0.0118 Pathogenic 6_153296541_G->C 6 153296541 153296541 G C snp 2708.77 0/1 99 249 128 121 0.49 exonic rs2073260 FBXO5 AU nonsynonymous SNV NM_001142522 exon2 c.C181G p.Q61E 0.772764 0.5982 0.759496 0.7121 0.5962 1 T 0.0 P -0.923 T 0.0 T 0.0 T Pathogenic 6_153311001_A->C 6 153311001 153311001 A C snp 1367.77 1/1 99 73 0 73 1.0 UTR3 rs3860814 MTRF1L AU 1 1 0.999743 0.9997 0.9995 Uncertain 6_153315921_G->A 6 153315921 153315921 G A snp 213.77 0/1 99 34 22 12 0.35 intronic rs3799133 MTRF1L AU NM_001114184 exon3 c.4592+110G>A 0.898962 0.8284 0.8802 0.8428 Uncertain 6_153323656_G->C 6 153323656 153323656 G C snp 676.77 0/1 99 41 16 25 0.61 exonic rs139411297 MTRF1L AU synonymous SNV NM_001114184 exon1 c.C165G p.A55A 0.0259585 0.0179 0.002702 0.0153 0.0151 Uncertain 6_153323896_T->C 6 153323896 153323896 T C snp 327.77 0/1 38 18 3 15 0.83 UTR5 rs3818127 MTRF1L AU 0.767372 0.5923 Uncertain 6_153344531_T->A 6 153344531 153344531 T A snp 1517.77 0/1 99 122 54 68 0.56 intronic rs685449 RGS17 AU NM_012419 exon2 c.12688-865T>A 0.467652 0.4593 0.416289 0.4282 0.4597 Uncertain 6_153344786_T->A 6 153344786 153344786 T A snp 83.77 0/1 69 5 2 3 0.6 intronic rs673999 RGS17 AU NM_012419 exon2 c.12688-610T>A 0.652556 0.5486 Uncertain 6_153345309_C->T 6 153345309 153345309 C T snp 109.77 0/1 99 10 5 5 0.5 intronic rs545323 RGS17 AU NM_012419 exon2 c.12688-87C>T 0.766973 0.5665 Uncertain 6_153365100_A->C 6 153365100 153365100 A C snp 1131.77 0/1 99 92 45 47 0.51 exonic rs2295230 RGS17 AU synonymous SNV NM_012419 exon2 c.T54G p.A18A 0.498203 0.6319 0.383285 0.3849 0.6231 Uncertain 6_153365348_G->A 6 153365348 153365348 G A snp 188.77 0/1 99 16 9 7 0.44 intronic rs2295231 RGS17 AU NM_012419 exon4 c.32470+170G>A 0.485423 0.631 Uncertain 6_153365384_T->G 6 153365384 153365384 T G snp 40.77 0/1 69 5 3 2 0.4 intronic rs2295232 RGS17 AU NM_012419 exon4 c.32470+206T>G 0.497604 0.6379 Uncertain 6_154360797_A->G 6 154360797 154360797 A G snp 5485.77 1/1 99 186 0 186 1.0 exonic rs1799971 OPRM1 AU nonsynonymous SNV NM_000914 exon1 c.A118G p.N40D 0.223442 0.3929 0.096974 0.1856 0.3816 0.01 T 0.997 P -0.989 T 0.95 T 0.775 D CLINSIG=unknown;CLNDBN=Opioid_dependence_1;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000010146.2;CLNDSDB=MedGen:OMIM;CLNDSDBID=C1864733:610064 ID=CM003770;DIS=Altered beta-endorphin binding, association with;TAG=DFP;PUB=9689128 DFP Pathogenic 6_154412004_G->C 6 154412004 154412004 G C snp 1114.77 1/1 84 30 0 30 1.0 intronic rs2075572 OPRM1 AU NM_001145281 exon3 c.80439-82G>C 0.611621 0.7986 Uncertain 6_154414375_A->C 6 154414375 154414375 A C snp 3078.77 1/1 99 108 0 108 1.0 intronic rs9282821 OPRM1 AU NM_001008505 exon4 c.53725-29A>C 0.61222 0.7966 0.551488 0.6063 0.7862 Uncertain 6_154414446_A->T 6 154414446 154414446 A T snp 4282.77 1/1 99 165 0 165 1.0 exonic rs540825 OPRM1 AU nonsynonymous SNV NM_001008505 exon4 c.A1206T p.Q402H 0.882188 0.9484 0.818635 0.8078 0.9373 0.01 T 0.0 P -0.984 T 0.0 T 0.0 T ID=CM1211078;DIS=Fentanyl-induced emesis, association with;TAG=DP;PUB=23144877 DP Pathogenic 6_154414563_A->G 6 154414563 154414563 A G snp 2271.77 1/1 99 79 0 79 1.0 exonic rs675026 OPRM1 AU synonymous SNV NM_001008505 exon4 c.A1323G p.G441G 0.778754 0.9048 0.687745 0.7190 0.8896 Uncertain 6_154414573_C->T 6 154414573 154414573 C T snp 1994.77 1/1 99 69 0 69 1.0 exonic rs562859 OPRM1 AU synonymous SNV NM_001008505 exon4 c.C1333T p.L445L 0.749201 0.9048 0.655984 0.7106 0.8894 Uncertain 6_154415434_G->T 6 154415434 154415434 G T snp 3696.77 1/1 99 139 0 139 1.0 intronic rs660756 OPRM1 AU NM_001008505 exon4 c.53976+779G>T 0.749601 0.9048 0.7787 0.9394 Uncertain 6_154428702_A->G 6 154428702 154428702 A G snp 1881.77 1/1 99 60 0 60 1.0 intronic rs650245 OPRM1 AU NM_001145285 exon4 c.68071-48A>G 0.88778 0.9821 0.867718 0.9211 0.9904 Uncertain 6_154431393_C->G 6 154431393 154431393 C G snp 178.9 1/1 15 5 0 5 1.0 intronic rs497332 OPRM1 AU NM_001145282 exon4 c.70810-96C>G 0.941094 0.9821 Uncertain 6_154520741_C->G 6 154520741 154520741 C G snp 244.77 0/1 99 21 12 9 0.43 intronic rs7341264 IPCEF1 AU NM_015553 exon3 c.39839-60C>G 0.194089 0.1935 Uncertain 6_154535444_A->G 6 154535444 154535444 A G snp 2264.77 0/1 99 223 124 99 0.44 intronic rs2293537 IPCEF1 AU NM_015553 exon5 c.54448+34A>G 0.192692 0.2113 0.162540 0.1625 0.1945 Uncertain 6_154567666_T->G 6 154567666 154567666 T G snp 906.77 0/1 99 74 37 37 0.5 intronic rs9479798 IPCEF1 AU NM_015553 exon8 c.86762-58T>G 0.283946 0.2698 Uncertain 6_154727825_C->T 6 154727825 154727825 C T snp 678.77 0/1 99 45 18 27 0.6 intronic rs12528985 CNKSR3 AU NM_173515 exon1 c.299+39C>T 0.415335 0.6062 0.401185 0.4674 0.6462 Uncertain 6_154749087_G->A 6 154749087 154749087 G A snp 159.77 0/1 55 7 2 5 0.71 intronic rs9397717 CNKSR3 AU NM_173515 exon7 c.21774-174G>A 0.460463 0.4137 Uncertain 6_154749225_A->T 6 154749225 154749225 A T snp 1370.77 0/1 99 104 51 53 0.51 intronic rs9384217 CNKSR3 AU NM_173515 exon7 c.21774-36A>T 0.358427 0.3889 0.423012 0.4299 0.4014 Uncertain 6_154762377_AA->- 6 154762377 154762378 AA - indel 533.73 1/1 55 21 1 20 0.95 intronic rs199812742 CNKSR3 AU NM_173515 exon10 c.34938-48_34938-47delAA 0.969249 0.997 0.3900 0.4524 Uncertain 6_154762394_A->G 6 154762394 154762394 A G snp 1399.77 1/1 99 49 1 48 0.98 intronic rs9384219 CNKSR3 AU NM_173515 exon10 c.34938-31A>G 0.969249 0.997 0.3633 0.5480 Uncertain 6_154771277_A->G 6 154771277 154771277 A G snp 2111.77 1/1 99 72 0 72 1.0 exonic rs9322467 CNKSR3 AU synonymous SNV NM_173515 exon2 c.T168C p.I56I 0.804113 0.9008 0.712056 0.7211 0.8918 Uncertain 6_154771449_T->C 6 154771449 154771449 T C snp 4245.77 1/1 99 162 0 162 1.0 intronic rs4870285 CNKSR3 AU NM_173515 exon12 c.43905+57T>C 0.779153 0.9008 Uncertain 6_155094988_G->A 6 155094988 155094988 G A snp 489.77 1/1 39 13 0 13 1.0 intronic rs7762129 SCAF8 AU NM_001286189 exon4 c.40566-134G>A 0.722843 0.9087 Uncertain 6_155099371_C->T 6 155099371 155099371 C T snp 52.74 1/1 6 2 0 2 1.0 intronic rs3800006 SCAF8 AU NM_001286189 exon5 c.44623+192C>T 0.696286 0.9087 Uncertain 6_155116286_TC->- 6 155116286 155116287 TC - indel 1387.73 1/1 84 31 0 31 1.0 intronic rs57295441 SCAF8 AU NM_001286189 exon8 c.61717+13_61717+14delTC 0.625 0.8998 0.474521 0.5079 0.8954 Uncertain 6_155124583_T->G 6 155124583 155124583 T G snp 645.77 1/1 48 20 0 20 1.0 intronic rs3757291 SCAF8 AU NM_001286189 exon10 c.70121-94T>G 0.729832 0.9087 Uncertain 6_155129785_CTTT->- 6 155129785 155129788 CTTT - indel 7636.73 1/1 99 110 0 110 1.0 intronic rs10609975 SCAF8 AU NM_001286189 exon13 c.75263-34_75263-31delCTTT 0.703075 0.9087 0.555032 0.5357 0.9036 Uncertain 6_155145355_C->G 6 155145355 155145355 C G snp 1586.77 0/1 99 163 93 70 0.43 intronic rs200134991 SCAF8 AU NM_001286189 exon19 c.90811-12C>G 0.000599042 0.001 0.000231 0.0004 0.0017 Uncertain 6_155485405_G->A 6 155485405 155485405 G A snp 43.77 0/1 64 4 2 2 0.5 intronic rs9322502 TIAM2 AU NM_012454 exon7 c.35191-143G>A 0.580471 0.5813 Uncertain 6_155485535_G->A 6 155485535 155485535 G A snp 1371.77 0/1 99 110 54 56 0.51 intronic rs1032140 TIAM2 AU NM_012454 exon7 c.35191-13G>A 0.569289 0.5605 0.551130 0.6208 0.5776 Uncertain 6_155485554_G->A 6 155485554 155485554 G A snp 1502.77 0/1 99 141 75 66 0.47 exonic rs1032141 TIAM2 AU synonymous SNV NM_012454 exon7 c.G2034A p.Q678Q 0.571086 0.5605 0.559511 0.6270 0.5775 Uncertain 6_155490051_G->A 6 155490051 155490051 G A snp 2113.77 0/1 99 210 110 100 0.48 intronic rs3763201 TIAM2 AU NM_012454 exon8 c.36186+3508G>A 0.0654952 0.0645 0.0103 0.0404 1.0 P Uncertain 6_155503151_T->C 6 155503151 155503151 T C snp 147.77 0/1 63 8 2 6 0.75 intronic rs7756965 TIAM2 AU NM_012454 exon12 c.53002-208T>C 0.71845 0.5843 Uncertain 6_155561760_T->C 6 155561760 155561760 T C snp 4797.77 1/1 99 169 0 169 1.0 exonic rs4259257 TIAM2 AU nonsynonymous SNV NM_001010927 exon2 c.T40C p.S14P 0.964257 1 0.969937 0.9837 0.9995 0.96 T 0.002 P -1.069 T 0.001 T 0.0 T Pathogenic 6_155566045_A->C 6 155566045 155566045 A C snp 197.84 1/1 18 6 0 6 1.0 intronic rs9371874 TIAM2 AU NM_012454 exon17 c.115560+128A>C 0.40635 0.6567 Uncertain 6_155566889_-->TT 6 155566889 155566889 - TT indel 354.86 1/1 2 50 2 48 0.96 intronic rs11435976 TIAM2 AU NM_012454 exon18 c.116508+24insTT 0.2648 0.4122 Uncertain 6_155569378_C->T 6 155569378 155569378 C T snp 602.77 1/1 45 18 0 18 1.0 intronic rs2274823 TIAM2 AU NM_012454 exon19 c.118956+65C>T 0.391174 0.6548 Uncertain 6_155571113_A->G 6 155571113 155571113 A G snp 4260.77 1/1 99 156 0 156 1.0 intronic rs3011902 TIAM2 AU NM_012454 exon20 c.120746+10A>G 0.973442 1 0.980624 0.9862 0.9997 Uncertain 6_155572986_G->A 6 155572986 155572986 G A snp 476.77 1/1 36 13 0 13 1.0 intronic rs3011899 TIAM2 AU NM_012454 exon22 c.122721-92G>A 0.972244 1 Uncertain 6_155577823_C->T 6 155577823 155577823 C T snp 5808.77 1/1 99 191 0 191 1.0 exonic rs1571766 TIAM2 AU synonymous SNV NM_001010927 exon13 c.C1449T p.A483A 0.748403 0.9851 0.633784 0.6627 0.9884 Uncertain 6_155578909_T->C 6 155578909 155578909 T C snp 388.77 0/1 99 21 7 14 0.67 UTR3 rs183959309 TFB1M AU 0.00139776 0.0069 Uncertain 6_155579246_A->C 6 155579246 155579246 A C snp 2345.77 1/1 99 83 0 83 1.0 intronic rs3734322 TFB1M AU NM_016020 exon1 c.247+30A>C 0.744209 0.9851 0.626557 0.6512 0.9883 Uncertain 6_155579400_A->G 6 155579400 155579400 A G snp 44.74 1/1 6 2 0 2 1.0 intronic rs3822964 TFB1M AU NM_016020 exon1 c.247+184A>G 0.532149 0.8075 Uncertain 6_155581289_C->A 6 155581289 155581289 C A snp 1333.77 1/1 99 37 0 37 1.0 intronic rs4869849 TFB1M AU NM_016020 exon2 c.2437-117C>A 0.749201 0.9851 Uncertain 6_155581619_G->A 6 155581619 155581619 G A snp 1072.77 1/1 81 33 1 32 0.97 intronic rs912721 TFB1M AU NM_016020 exon2 c.2565+85G>A 0.749201 0.9851 Uncertain 6_155596901_T->C 6 155596901 155596901 T C snp 4362.77 1/1 99 160 0 160 1.0 exonic rs927718 CLDN20 AU synonymous SNV NM_001001346 exon2 c.T48C p.S16S 0.743011 0.9851 0.625327 0.6611 0.9884 Uncertain 6_155597147_C->T 6 155597147 155597147 C T snp 7249.77 1/1 99 248 0 248 1.0 exonic rs1555774 CLDN20 AU synonymous SNV NM_001001346 exon2 c.C294T p.S98S 0.397963 0.6528 0.267723 0.3330 0.6742 Uncertain 6_155597644_A->G 6 155597644 155597644 A G snp 204.84 1/1 18 6 0 6 1.0 UTR3 rs6925410 CLDN20 AU 0.743011 0.9851 Uncertain 6_155606325_C->T 6 155606325 155606325 C T snp 2930.77 1/1 99 117 0 117 1.0 exonic rs324356 TFB1M AU synonymous SNV NM_016020 exon5 c.G633A p.T211T 0.671925 0.8333 0.550746 0.5722 0.8527 Uncertain 6_155606531_A->G 6 155606531 155606531 A G snp 182.9 1/1 15 5 0 5 1.0 intronic rs324357 TFB1M AU NM_016020 exon3 c.27442+120A>G 0.673522 0.8333 Uncertain 6_155635585_A->C 6 155635585 155635585 A C snp 1350.77 1/1 96 48 0 48 1.0 UTR5 rs162981 TFB1M AU 0.731629 0.8264 0.627018 0.6544 0.8287 Uncertain 6_155635624_A->G 6 155635624 155635624 A G snp 818.77 1/1 60 25 0 25 1.0 upstream rs1334688 TFB1M AU 0.615016 0.8145 Uncertain 6_155635637_A->C 6 155635637 155635637 A C snp 560.77 1/1 42 18 0 18 1.0 upstream rs1334687 TFB1M AU 0.615016 0.8145 Uncertain 6_155728132_T->C 6 155728132 155728132 T C snp 77.77 0/1 69 5 2 3 0.6 intronic rs74986878 NOX3 AU NM_015718 exon3 c.10294-131T>C 0.0634984 0.1339 Uncertain 6_155743803_G->A 6 155743803 155743803 G A snp 1382.77 0/1 99 155 94 61 0.39 intronic rs138541489 NOX3 AU NM_015718 exon5 c.25858-24G>A 0.00119808 0.006 0.0004 0.0054 Uncertain 6_155750035_C->T 6 155750035 155750035 C T snp 4979.77 1/1 99 176 1 175 0.99 exonic rs231954 NOX3 AU synonymous SNV NM_015718 exon9 c.G1038A p.E346E 0.737819 0.9137 0.609488 0.6399 0.8932 Uncertain 6_155750038_C->T 6 155750038 155750038 C T snp 1622.77 0/1 99 183 113 70 0.38 exonic rs1413752 NOX3 AU synonymous SNV NM_015718 exon9 c.G1035A p.Q345Q 0.0419329 0.0089 0.020990 0.0170 0.0060 Uncertain 6_155750219_G->A 6 155750219 155750219 G A snp 3137.77 1/1 99 109 0 109 1.0 intronic rs231955 NOX3 AU NM_015718 exon6 c.32212+38G>A 0.919728 0.9633 0.857297 0.8746 0.9645 Uncertain 6_155757781_T->A 6 155757781 155757781 T A snp 210.77 0/1 99 22 15 7 0.32 intronic rs231961 NOX3 AU NM_015718 exon8 c.39712+100T>A 0.133986 0.0625 Uncertain 6_155757828_C->T 6 155757828 155757828 C T snp 77.77 0/1 69 5 2 3 0.6 intronic rs2073011 NOX3 AU NM_015718 exon8 c.39712+147C>T 0.15615 0.5169 Uncertain 6_155761246_G->T 6 155761246 155761246 G T snp 468.77 0/1 99 49 24 25 0.51 exonic rs3749930 NOX3 AU nonsynonymous SNV NM_015718 exon6 c.C512A p.T171K 0.197484 0.4821 0.052284 0.1274 0.5107 0.15 T 0.990 P 0.836 D 0.982 D 0.824 D Pathogenic 6_155774608_C->T 6 155774608 155774608 C T snp 2924.77 0/1 99 239 118 121 0.51 exonic rs34960420 NOX3 AU synonymous SNV NM_015718 exon4 c.G270A p.P90P 0.127396 0.1121 0.110641 0.1373 0.0942 Uncertain 6_155775980_G->T 6 155775980 155775980 G T snp 2414.77 0/1 99 237 132 105 0.44 exonic rs12195525 NOX3 AU synonymous SNV NM_015718 exon3 c.C220A p.R74R 0.128594 0.1171 0.110487 0.1376 0.0984 Uncertain 6_155776854_T->G 6 155776854 155776854 T G snp 1854.77 0/1 99 113 44 69 0.61 intronic rs6906426 NOX3 AU NM_015718 exon14 c.58917-32T>G 0.10643 0.1181 0.089036 0.1330 0.1069 Uncertain 6_157101072_A->C 6 157101072 157101072 A C snp 685.77 1/1 51 22 0 22 1.0 intronic rs1261893 ARID1B AD NM_017519 exon1 c.1542+467A>C 0.995407 1 Uncertain 6_157454046_T->C 6 157454046 157454046 T C snp 133.77 0/1 99 20 14 6 0.3 intronic rs6913416 ARID1B AD NM_017519 exon7 c.355098-115T>C 0.140775 0.0149 Uncertain 6_157950088_G->C 6 157950088 157950088 G C snp 2254.77 1/1 99 85 2 83 0.98 intronic rs17541624 ZDHHC14 AU NM_024630 exon2 c.160563-13528G>C 0.561901 0.4246 Uncertain 6_157950346_T->C 6 157950346 157950346 T C snp 1167.77 1/1 84 42 1 41 0.98 intronic rs9457707 ZDHHC14 AU NM_024630 exon2 c.160563-13270T>C 0.592452 0.4246 Uncertain 6_157963402_A->G 6 157963402 157963402 A G snp 54.74 1/1 6 2 0 2 1.0 intronic rs35271855 ZDHHC14 AU NM_024630 exon2 c.160563-214A>G 0.58746 0.4256 Uncertain 6_157963415_G->C 6 157963415 157963415 G C snp 41.74 1/1 6 2 0 2 1.0 intronic rs35501849 ZDHHC14 AU NM_024630 exon2 c.160563-201G>C 0.396765 0.3839 Uncertain 6_157963550_T->C 6 157963550 157963550 T C snp 2245.77 1/1 99 84 0 84 1.0 intronic rs17165416 ZDHHC14 AU NM_024630 exon2 c.160563-66T>C 0.414137 0.3968 Uncertain 6_157963743_G->A 6 157963743 157963743 G A snp 3823.77 1/1 99 138 0 138 1.0 exonic rs2365611 ZDHHC14 AU synonymous SNV NM_024630 exon2 c.G372A p.T124T 0.396965 0.3839 0.379945 0.4127 0.3765 Uncertain 6_157963842_C->A 6 157963842 157963842 C A snp 1237.77 1/1 90 37 0 37 1.0 intronic rs2886421 ZDHHC14 AU NM_024630 exon2 c.160724+65C>A 0.364816 0.3839 Uncertain 6_158014255_C->G 6 158014255 158014255 C G snp 701.77 1/1 54 21 0 21 1.0 intronic rs905924 ZDHHC14 AU NM_024630 exon3 c.211125+77C>G 0.455671 0.5843 Uncertain 6_158014296_G->C 6 158014296 158014296 G C snp 258.8 1/1 21 7 0 7 1.0 intronic rs905925 ZDHHC14 AU NM_024630 exon3 c.211125+118G>C 0.713858 0.7877 Uncertain 6_158066690_G->A 6 158066690 158066690 G A snp 324.78 1/1 27 9 0 9 1.0 intronic rs17165463 ZDHHC14 AU NM_024630 exon6 c.263715-78G>A 0.320687 0.5863 Uncertain 6_158068481_T->C 6 158068481 158068481 T C snp 1370.77 1/1 99 44 0 44 1.0 intronic rs616538 ZDHHC14 AU NM_024630 exon7 c.265347+81T>C 0.765775 0.7123 Uncertain 6_158074504_A->G 6 158074504 158074504 A G snp 2453.77 1/1 99 88 0 88 1.0 intronic rs636169 ZDHHC14 AU NM_024630 exon8 c.271503-52A>G 0.969649 0.999 Uncertain 6_158361899_C->T 6 158361899 158361899 C T snp 1483.77 0/1 99 134 70 64 0.48 intronic rs912879 SNX9 AU NM_016224 exon17 c.117448-15C>T 0.826877 0.8552 0.819391 0.7562 0.8613 Uncertain 6_158438933_G->A 6 158438933 158438933 G A snp 913.77 0/1 99 51 21 30 0.59 intronic rs1109511 SYNJ2 AU NM_003898 exon2 c.35329+611G>A 0.376997 0.2619 Uncertain 6_158464614_G->A 6 158464614 158464614 G A snp 708.77 0/1 99 57 32 25 0.44 intronic SYNJ2 AU NM_001178088 exon4 c.84+183G>A Uncertain 6_158475941_T->C 6 158475941 158475941 T C snp 670.77 0/1 99 59 31 28 0.47 intronic rs2296510 SYNJ2 AU NM_001178088 exon5 c.11651-57T>C 0.523562 0.4871 0.478756 Uncertain 6_158487406_A->T 6 158487406 158487406 A T snp 513.77 0/1 99 55 35 20 0.36 intronic rs1009012 SYNJ2 AU NM_001178088 exon11 c.23128-69A>T 0.341853 0.3185 Uncertain 6_158487734_-->T 6 158487734 158487734 - T indel 1131.73 0/1 99 72 32 40 0.56 intronic rs3215807 SYNJ2 AU NM_001178088 exon11 c.23320+67insT 0.322883 0.3185 0.3744 0.3522 Uncertain 6_158489863_C->T 6 158489863 158489863 C T snp 155.77 0/1 99 9 4 5 0.56 intronic rs736741 SYNJ2 AU NM_001178088 exon12 c.25413+103C>T 0.162141 0.2292 Uncertain 6_158490779_C->T 6 158490779 158490779 C T snp 1251.77 1/1 93 38 0 38 1.0 intronic rs751873 SYNJ2 AU NM_001178088 exon13 c.26358+74C>T 0.398163 0.4504 Uncertain 6_158495863_G->A 6 158495863 158495863 G A snp 547.77 0/1 99 83 55 28 0.34 intronic rs12203105 SYNJ2 AU NM_001178088 exon15 c.31423+93G>A 0.251198 0.128 Uncertain 6_158495956_T->C 6 158495956 158495956 T C snp 40.77 0/1 69 5 3 2 0.4 intronic rs7765766 SYNJ2 AU NM_001178088 exon15 c.31423+186T>C Uncertain 6_158497717_T->C 6 158497717 158497717 T C snp 1704.77 0/1 99 153 79 74 0.48 exonic rs2296508 SYNJ2 AU synonymous SNV NM_001178088 exon16 c.T1641C p.V547V 0.578275 0.5883 0.579040 0.5215 0.5806 Uncertain 6_158499003_T->C 6 158499003 158499003 T C snp 123.78 0/1 27 5 1 4 0.8 intronic rs3818457 SYNJ2 AU NM_001178088 exon17 c.34848-192T>C 0.570288 0.5833 Uncertain 6_158499044_A->C 6 158499044 158499044 A C snp 184.77 0/1 99 32 23 9 0.28 intronic rs117124588 SYNJ2 AU NM_001178088 exon17 c.34848-151A>C 0.00479233 0.0238 Uncertain 6_158499097_-->T 6 158499097 158499097 - T indel 1157.73 0/1 99 54 20 34 0.63 intronic rs3831094 SYNJ2 AU NM_001178088 exon17 c.34848-98insT 0.554313 0.5833 Uncertain 6_158499302_G->T 6 158499302 158499302 G T snp 834.77 0/1 99 91 53 38 0.42 exonic rs2296507 SYNJ2 AU synonymous SNV NM_001178088 exon17 c.G1845T p.A615A 0.552915 0.5833 0.553744 0.5104 0.5738 Uncertain 6_158502137_G->T 6 158502137 158502137 G T snp 398.77 0/1 99 28 15 13 0.46 splicing rs2256014 SYNJ2 AU NM_001178088 exon18 c.37793-3G>T 0.548922 0.5784 0.552130 0.5097 0.5731 Pathogenic 6_158502590_C->A 6 158502590 158502590 C A snp 822.77 0/1 99 83 48 35 0.42 intronic rs173263 SYNJ2 AU NM_001178088 exon19 c.38195+48C>A 0.786741 0.5843 0.888436 0.8040 0.5799 Uncertain 6_158504813_C->G 6 158504813 158504813 C G snp 83.77 0/1 67 5 2 3 0.6 intronic rs1750037 SYNJ2 AU NM_001178088 exon20 c.40282+184C>G 0.794129 0.5933 Uncertain 6_158504981_C->T 6 158504981 158504981 C T snp 1403.77 0/1 99 156 90 66 0.42 intronic rs2236401 SYNJ2 AU NM_001178088 exon21 c.40685-51C>T 0.533746 0.5774 0.535926 Uncertain 6_158505088_A->G 6 158505088 158505088 A G snp 2271.77 0/1 99 211 110 101 0.48 exonic rs1744173 SYNJ2 AU synonymous SNV NM_001178088 exon21 c.A2379G p.G793G 0.794129 0.5933 0.894510 0.8060 0.5878 Uncertain 6_158507981_G->A 6 158507981 158507981 G A snp 3387.77 0/1 99 250 97 153 0.61 exonic rs2296506 SYNJ2 AU synonymous SNV NM_001178088 exon22 c.G2592A p.R864R 0.527955 0.5913 0.523681 0.5079 0.5895 Uncertain 6_158509750_A->G 6 158509750 158509750 A G snp 797.77 0/1 99 81 47 34 0.42 exonic rs350289 SYNJ2 AU synonymous SNV NM_001178088 exon23 c.A2691G p.G897G 0.804113 0.6052 0.905736 0.8207 0.5985 Uncertain 6_158517308_A->G 6 158517308 158517308 A G snp 1011.77 0/1 99 103 63 40 0.39 exonic rs2502601 SYNJ2 AU nonsynonymous SNV NM_001178088 exon26 c.A3692G p.E1231G 0.547324 0.5694 0.533754 0.5155 0.5642 0.67 T 0.0 P -0.826 T 0.0 T 0.0 T Pathogenic 6_158517451_A->G 6 158517451 158517451 A G snp 494.77 0/1 99 27 8 19 0.7 UTR3 rs2502600 SYNJ2 AU 0.559904 0.5694 Uncertain 6_158536116_A->T 6 158536116 158536116 A T snp 256.77 0/1 99 18 9 9 0.5 intronic rs2502604 SERAC1 AR NM_032861 exon3 c.3606+113A>T 0.554113 0.5694 Uncertain 6_158569886_T->C 6 158569886 158569886 T C snp 948.77 0/1 99 97 50 47 0.48 intronic rs9356399 SERAC1 AR NM_032861 exon13 c.37499-10T>C 0.400559 0.4236 0.413411 0.4708 0.4351 CLINSIG=non-pathogenic;CLNDBN=not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000128024.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Uncertain 6_158571501_G->A 6 158571501 158571501 G A snp 418.77 0/1 99 30 11 19 0.63 exonic rs6929274 SERAC1 AR synonymous SNV NM_032861 exon4 c.C249T p.D83D 0.713858 0.7262 0.705140 0.7174 0.7242 CLINSIG=non-pathogenic;CLNDBN=not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000128023.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Uncertain 6_158571655_G->C 6 158571655 158571655 G C snp 283.77 0/1 99 32 19 13 0.41 intronic rs6929520 SERAC1 AR NM_032861 exon14 c.39224+34G>C 0.713658 0.7262 0.706227 0.7177 0.7247 Uncertain 6_158579237_T->C 6 158579237 158579237 T C snp 1216.77 0/1 99 101 48 53 0.52 intronic rs6933016 SERAC1 AR NM_032861 exon16 c.46907-67T>C 0.344649 0.4177 Uncertain 6_158735087_C->T 6 158735087 158735087 C T snp 591.77 0/1 99 68 42 26 0.38 exonic rs9364951 TULP4 AU synonymous SNV NM_020245 exon1 c.C39T p.S13S 0.865216 0.9038 0.847532 0.8941 0.8956 Uncertain 6_158735090_T->C 6 158735090 158735090 T C snp 576.77 0/1 99 70 43 27 0.39 exonic rs7756620 TULP4 AU synonymous SNV NM_020245 exon1 c.T42C p.D14D 0.866813 0.9048 0.848685 0.8944 0.8957 Uncertain 6_158873023_T->C 6 158873023 158873023 T C snp 188.77 0/1 99 29 22 7 0.24 intronic rs341139 TULP4 AU NM_020245 exon5 c.138117-142T>C 0.467851 0.3552 Uncertain 6_158873376_T->C 6 158873376 158873376 T C snp 74.77 0/1 99 7 4 3 0.43 intronic rs827958 TULP4 AU NM_020245 exon5 c.138252+76T>C 0.476837 0.3552 Uncertain 6_158915628_T->C 6 158915628 158915628 T C snp 99.28 1/1 9 3 0 3 1.0 intronic rs3763172 TULP4 AU NM_020245 exon11 c.180736-156T>C 0.291933 0.5337 Uncertain 6_158923434_G->C 6 158923434 158923434 G C snp 5895.77 1/1 99 214 1 213 1.0 exonic rs9364968 TULP4 AU synonymous SNV NM_020245 exon13 c.G2739C p.T913T 0.827077 0.8869 0.775796 0.7872 0.8900 Uncertain 6_158924088_T->C 6 158924088 158924088 T C snp 6721.77 1/1 99 236 0 236 1.0 exonic rs914690 TULP4 AU synonymous SNV NM_020245 exon13 c.T3393C p.D1131D 0.9998 1 0.999385 0.9995 1 Uncertain 6_158993342_ATA->- 6 158993342 158993344 ATA - indel 6557.73 1/1 99 103 0 103 1.0 intronic rs34964890 TMEM181 AU NM_020823 exon2 c.36973-1109_36973-1107delATA 0.70627 0.7292 Uncertain 6_158994577_T->G 6 158994577 158994577 T G snp 4836.77 1/1 99 180 0 180 1.0 intronic rs4709217 TMEM181 AU NM_020823 exon2 c.37077+22T>G 0.996805 1 0.995142 0.9932 1 Uncertain 6_159026184_G->A 6 159026184 159026184 G A snp 258.8 1/1 21 7 0 7 1.0 intronic rs62437850 TMEM181 AU NM_020823 exon7 c.68820-114G>A 0.313099 0.5734 Uncertain 6_159026186_G->A 6 159026186 159026186 G A snp 261.8 1/1 21 7 0 7 1.0 intronic rs62437851 TMEM181 AU NM_020823 exon7 c.68820-112G>A 0.354233 0.5744 Uncertain 6_159026188_G->A 6 159026188 159026188 G A snp 267.8 1/1 21 7 0 7 1.0 intronic rs56148141 TMEM181 AU NM_020823 exon7 c.68820-110G>A 0.454872 0.5754 Uncertain 6_159026190_G->A 6 159026190 159026190 G A snp 267.8 1/1 21 7 0 7 1.0 intronic rs56053084 TMEM181 AU NM_020823 exon7 c.68820-108G>A 0.454872 0.5754 Uncertain 6_159028476_G->C 6 159028476 159028476 G C snp 633.77 1/1 48 19 0 19 1.0 intronic rs3734475 TMEM181 AU NM_020823 exon8 c.70897+101G>C 0.342452 0.5734 Uncertain 6_159028488_C->T 6 159028488 159028488 C T snp 394.77 1/1 30 14 0 14 1.0 intronic rs3734474 TMEM181 AU NM_020823 exon8 c.70897+113C>T 0.45647 0.5734 Uncertain 6_159029238_AGGTGCTGACCCCGCAGAGGTATGGGGTGCTCTCTGCT->- 6 159029238 159029275 AGGTGCTGACCCCGCAGAGGTATGGGGTGCTCTCTGCT - indel 9399.73 1/1 99 41 0 41 1.0 intronic rs58458494 TMEM181 AU NM_020823 exon9 c.71886-126_71886-89delAGGTGCTGACCCCGCAGAGGTATGGGGTGCTCTCTGCT Uncertain 6_159029342_G->C 6 159029342 159029342 G C snp 3397.77 1/1 99 125 2 123 0.98 intronic rs6925091 TMEM181 AU NM_020823 exon9 c.71886-22G>C 0.456869 0.5744 0.422557 0.4271 0.6286 Uncertain 6_159046076_T->G 6 159046076 159046076 T G snp 1705.77 1/1 99 58 0 58 1.0 intronic rs6905898 TMEM181 AU NM_020823 exon12 c.88657-59T>G 0.675719 0.7351 Uncertain 6_159046207_G->A 6 159046207 159046207 G A snp 738.77 0/1 99 102 68 34 0.33 exonic rs189597784 TMEM181 AU synonymous SNV NM_020823 exon12 c.G1437A p.A479A 0.00199681 0.0099 0.0010 0.0137 ID=COSM1075444;OCCURENCE=1(endometrium) Uncertain 6_159047536_C->T 6 159047536 159047536 C T snp 4115.77 1/1 99 139 0 139 1.0 intronic rs16900886 TMEM181 AU NM_020823 exon13 c.89308+750C>T 0.358427 0.6359 Uncertain 6_159049178_T->C 6 159049178 159049178 T C snp 133.03 1/1 12 4 0 4 1.0 intronic rs4708799 TMEM181 AU NM_020823 exon14 c.91961-261T>C 0.720647 0.7361 Uncertain 6_159049367_T->C 6 159049367 159049367 T C snp 7063.77 1/1 99 250 0 250 1.0 intronic rs4708800 TMEM181 AU NM_020823 exon14 c.91961-72T>C 0.360623 0.6369 0.4229 0.7186 Uncertain 6_159050889_C->T 6 159050889 159050889 C T snp 1880.77 1/1 99 65 0 65 1.0 intronic rs2278612 TMEM181 AU NM_020823 exon15 c.93373+38C>T 0.349641 0.6349 0.276448 0.3261 0.6845 Uncertain 6_159058849_T->C 6 159058849 159058849 T C snp 2360.77 0/1 99 178 81 97 0.54 exonic rs779630473 DYNLT1 AU synonymous SNV NM_001291602 exon2 c.A105G p.Q35Q 9.983e-05 0.0014 Uncertain 6_159065758_C->G 6 159065758 159065758 C G snp 3797.77 1/1 99 145 0 145 1.0 UTR5 rs2306751 DYNLT1 AU 0.675719 0.7302 0.652645 0.6096 0.7750 Uncertain 6_159129393_C->T 6 159129393 159129393 C T snp 2824.77 0/1 99 239 117 122 0.51 exonic rs374428291 SYTL3 AU synonymous SNV NM_001242394 exon8 c.C486T p.S162S 0.000077 9.885e-05 0.0008 Uncertain 6_159178345_C->T 6 159178345 159178345 C T snp 2905.77 1/1 99 107 0 107 1.0 exonic rs901363 SYTL3 AU nonsynonymous SNV NM_001242395 exon12 c.C1036T p.P346S 0.449081 0.7361 0.317853 0.3987 0.7892 0.43 T 1.000 P -1.001 T 0.853 T 0.395 P Pathogenic 6_159178593_G->A 6 159178593 159178593 G A snp 218.84 1/1 18 6 0 6 1.0 intronic rs2018933 SYTL3 AU NM_001242384 exon15 c.94113+180G>A 0.471246 0.7391 Uncertain 6_159190248_G->C 6 159190248 159190248 G C snp 80.77 0/1 99 6 3 3 0.5 intronic EZR AU NM_003379 exon3 c.2412-109G>C Uncertain 6_159398633_T->C 6 159398633 159398633 T C snp 3441.77 0/1 99 250 118 132 0.53 exonic rs3756988 RSPH3 AR synonymous SNV NM_031924 exon8 c.A1620G p.E540E 0.21246 0.3919 0.102260 0.1755 0.3979 Uncertain 6_159398700_C->T 6 159398700 159398700 C T snp 3003.77 0/1 99 249 126 123 0.49 exonic rs3756987 RSPH3 AR nonsynonymous SNV NM_031924 exon8 c.G1553A p.G518D 0.21246 0.3919 0.102260 0.1754 0.3975 0.94 T 0.0 P -0.913 T 0.0 T 0.0 T Pathogenic 6_159398764_G->A 6 159398764 159398764 G A snp 2188.77 0/1 99 189 97 92 0.49 exonic rs12191022 RSPH3 AR synonymous SNV NM_031924 exon8 c.C1489T p.L497L 0.198283 0.3919 0.082193 0.1588 0.3980 Uncertain 6_159399348_A->G 6 159399348 159399348 A G snp 467.77 0/1 99 38 16 22 0.58 exonic rs768994 RSPH3 AR nonsynonymous SNV NM_031924 exon7 c.T1316C p.M439T 0.195887 0.3919 0.078530 0.1683 0.4003 0.15 T 1.000 P -1.117 T 0.743 T 0.536 P Pathogenic 6_159404862_C->T 6 159404862 159404862 C T snp 468.77 0/1 99 36 20 16 0.44 intronic rs2143651 RSPH3 AR NM_031924 exon5 c.6270+23C>T 0.21246 0.3919 0.101953 0.1766 0.3967 Uncertain 6_159407208_G->T 6 159407208 159407208 G T snp 887.77 0/1 99 79 40 39 0.49 intronic rs28627682 RSPH3 AR NM_031924 exon6 c.8742-103G>T 0.311502 0.3919 Uncertain 6_159407446_C->T 6 159407446 159407446 C T snp 347.77 0/1 99 29 18 11 0.38 exonic rs34582178 RSPH3 AR nonsynonymous SNV NM_031924 exon3 c.G638A p.R213Q 0.21246 0.3919 0.102260 0.1759 0.3976 1 T 1.000 P -0.919 T 0.001 T 0.001 T Pathogenic 6_159414811_C->T 6 159414811 159414811 C T snp 1669.77 0/1 99 188 111 77 0.41 intronic rs77876414 RSPH3 AR NM_031924 exon7 c.16301-59C>T 0.198482 0.3929 Uncertain 6_159414843_G->A 6 159414843 159414843 G A snp 2344.77 0/1 99 239 133 106 0.44 intronic rs16889317 RSPH3 AR NM_031924 exon7 c.16301-27G>A 0.197085 0.3919 0.080117 0.1583 0.3991 Uncertain 6_159414899_T->C 6 159414899 159414899 T C snp 2327.77 0/1 99 245 140 105 0.43 exonic rs16889320 RSPH3 AR nonsynonymous SNV NM_031924 exon2 c.A602G p.N201S 0.198283 0.3919 0.082193 0.1588 0.3987 0.64 T 0.001 P -1.085 T 1.0 D 0.997 D Pathogenic 6_159420574_T->C 6 159420574 159420574 T C snp 940.77 0/1 99 83 43 40 0.48 exonic rs10945587 RSPH3 AR synonymous SNV NM_031924 exon1 c.A435G p.S145S 0.321486 0.3958 0.226126 0.2328 0.4031 Uncertain 6_159456842_G->A 6 159456842 159456842 G A snp 2250.77 0/1 99 183 91 92 0.5 UTR3 rs2235822 TAGAP AU 0.158546 0.376 0.044210 0.1364 0.3888 Uncertain 6_159461931_C->T 6 159461931 159461931 C T snp 149.77 0/1 99 16 8 8 0.5 intronic rs2073138 TAGAP AU NM_152133 exon4 c.5006+67C>T 0.206669 0.376 Uncertain 6_159590734_T->C 6 159590734 159590734 T C snp 483.77 1/1 36 20 0 20 1.0 exonic rs295332 FNDC1 AU nonsynonymous SNV NM_032532 exon1 c.T106C p.S36P 0.550919 0.628 0.5 . 0.35 T 0.000 P -0.902 T 0.0 T 0.0 T Pathogenic 6_159618303_C->T 6 159618303 159618303 C T snp 300.77 0/1 99 15 6 9 0.6 intronic rs371373 FNDC1 AU NM_032532 exon2 c.27834-159C>T 0.533546 0.6349 Uncertain 6_159618397_C->T 6 159618397 159618397 C T snp 1708.77 0/1 99 144 74 70 0.49 intronic rs371023 FNDC1 AU NM_032532 exon2 c.27834-65C>T 0.368411 0.6329 Uncertain 6_159620925_G->A 6 159620925 159620925 G A snp 1082.77 0/1 99 95 50 45 0.47 intronic rs294923 FNDC1 AU NM_032532 exon3 c.30399-102G>A 0.365415 0.6349 Uncertain 6_159635943_T->G 6 159635943 159635943 T G snp 230.77 0/1 97 11 3 8 0.73 intronic rs400477 FNDC1 AU NM_032532 exon5 c.45348-33T>G 0.196486 0.2956 0.149879 0.1320 0.2882 Uncertain 6_159642501_A->G 6 159642501 159642501 A G snp 56.74 1/1 6 2 0 2 1.0 intronic rs399369 FNDC1 AU NM_032532 exon6 c.52001-128A>G 0.508786 0.6379 Uncertain 6_159642519_C->T 6 159642519 159642519 C T snp 119.77 0/1 99 7 3 4 0.57 intronic rs430833 FNDC1 AU NM_032532 exon6 c.52001-110C>T 0.517971 0.63 Uncertain 6_159642860_G->A 6 159642860 159642860 G A snp 1136.77 0/1 99 81 42 39 0.48 intronic rs419281 FNDC1 AU NM_032532 exon6 c.52100+132G>A 0.478435 0.6954 Uncertain 6_159646853_G->A 6 159646853 159646853 G A snp 709.77 0/1 99 61 36 25 0.41 intronic rs389041 FNDC1 AU NM_032532 exon8 c.56126+99G>A 0.509784 0.7232 Uncertain 6_159650978_A->G 6 159650978 159650978 A G snp 585.77 0/1 99 59 33 26 0.44 exonic rs509648 FNDC1 AU nonsynonymous SNV NM_032532 exon10 c.A1312G p.T438A 0.508586 0.7232 0.357096 0.3341 0.7577 0.65 T 1.000 P -0.984 T 0.0 T 0.002 T Pathogenic 6_159652931_G->C 6 159652931 159652931 G C snp 1149.77 0/1 99 100 52 48 0.48 exonic rs420137 FNDC1 AU nonsynonymous SNV NM_032532 exon11 c.G1387C p.E463Q 0.784545 0.621 0.853014 0.8634 0.6390 0.64 T 0.0 P -0.967 T 0.0 T 0.001 T Pathogenic 6_159653635_C->G 6 159653635 159653635 C G snp 1972.77 0/1 99 143 74 69 0.48 exonic rs381639 FNDC1 AU synonymous SNV NM_032532 exon11 c.C2091G p.A697A 0.493411 0.2768 0.641469 0.6653 0.2458 0.0 P -1.099 T Likely benign 6_159654487_G->T 6 159654487 159654487 G T snp 2177.77 0/1 99 139 49 90 0.65 exonic rs404435 FNDC1 AU synonymous SNV NM_032532 exon11 c.G2943T p.P981P 0.786542 0.626 0.849568 0.8665 0.6488 0.0 P -1.042 T Likely benign 6_159654551_C->G 6 159654551 159654551 C G snp 2055.77 0/1 99 130 46 84 0.65 exonic rs370434 FNDC1 AU nonsynonymous SNV NM_032532 exon11 c.C3007G p.Q1003E 0.785743 0.626 0.852200 0.8667 0.6553 1 T 0.0 P -1.022 T 0.0 T 0.0 T Pathogenic 6_159654994_A->C 6 159654994 159654994 A C snp 1294.77 0/1 99 92 44 48 0.52 exonic rs402388 FNDC1 AU synonymous SNV NM_032532 exon11 c.A3450C p.V1150V 0.786342 0.627 0.852606 0.8420 0.6158 0.000 P -1.021 T Likely benign 6_159655084_C->G 6 159655084 159655084 C G snp 2257.77 0/1 99 169 71 98 0.58 exonic rs420054 FNDC1 AU nonsynonymous SNV NM_032532 exon11 c.C3540G p.D1180E 0.782348 0.626 0.853315 0.8367 0.6143 1 T 0.000 P -0.993 T 0.0 T 0.002 T Pathogenic 6_159655102_A->G 6 159655102 159655102 A G snp 2328.77 0/1 99 189 86 103 0.54 exonic rs436743 FNDC1 AU synonymous SNV NM_032532 exon11 c.A3558G p.G1186G 0.786142 0.626 0.854008 0.8638 0.6398 0.0 P -1.074 T Likely benign 6_159655326_T->C 6 159655326 159655326 T C snp 1038.77 0/1 99 95 55 40 0.42 exonic rs3003174 FNDC1 AU nonsynonymous SNV NM_032532 exon11 c.T3782C p.L1261P 0.786142 0.626 0.850313 0.8680 0.6610 0.23 T 0.0 P -0.959 T 0.0 T 0.0 T Pathogenic 6_159655383_A->G 6 159655383 159655383 A G snp 2143.77 0/1 99 180 91 89 0.49 exonic rs2501176 FNDC1 AU nonsynonymous SNV NM_032532 exon11 c.A3839G p.Q1280R 0.786142 0.626 0.850902 0.8680 0.6537 1 T 0.0 P -0.914 T 0.0 T 0.001 T Pathogenic 6_159655402_A->G 6 159655402 159655402 A G snp 2302.77 0/1 99 201 103 98 0.49 exonic rs2932988 FNDC1 AU synonymous SNV NM_032532 exon11 c.A3858G p.P1286P 0.785942 0.626 0.850750 0.8673 0.6502 0.000 P -1.041 T Likely benign 6_159655593_C->T 6 159655593 159655593 C T snp 757.77 0/1 99 35 13 22 0.63 intronic rs2501177 FNDC1 AU NM_032532 exon11 c.64883+82C>T 0.786142 0.626 Uncertain 6_159657195_G->T 6 159657195 159657195 G T snp 629.77 0/1 99 33 12 21 0.64 intronic rs420339 FNDC1 AU NM_032532 exon12 c.66618-51G>T 0.786142 0.626 Uncertain 6_159659481_C->T 6 159659481 159659481 C T snp 133.77 0/1 99 13 8 5 0.38 intronic rs419836 FNDC1 AU NM_032532 exon13 c.68957-104C>T 0.786142 0.626 Uncertain 6_159659523_A->G 6 159659523 159659523 A G snp 635.77 0/1 99 40 18 22 0.55 intronic rs450538 FNDC1 AU NM_032532 exon13 c.68957-62A>G 0.786142 0.626 Uncertain 6_159660879_C->A 6 159660879 159660879 C A snp 1197.77 0/1 99 90 34 56 0.62 exonic rs386360 FNDC1 AU nonsynonymous SNV NM_032532 exon14 c.C4511A p.T1504K 0.784944 0.625 0.869177 0.8672 0.6540 0.86 T 0.0 P -0.955 T 0.0 T 0.0 T Pathogenic 6_159669949_-->TGTC 6 159669949 159669949 - TGTC indel 374.73 0/1 99 29 19 10 0.34 intronic rs138660325 FNDC1 AU NM_032532 exon16 c.79442-121insTGTC Uncertain 6_159669953_G->C 6 159669953 159669953 G C snp 1033.77 1/1 75 32 0 32 1.0 intronic rs28487880 FNDC1 AU NM_032532 exon16 c.79442-117G>C 0.754193 0.7192 Uncertain 6_159670100_A->G 6 159670100 159670100 A G snp 1286.77 0/1 99 143 82 61 0.43 exonic rs7763726 FNDC1 AU nonsynonymous SNV NM_032532 exon16 c.A4720G p.T1574A 0.145567 0.3552 0.075450 0.0993 0.3876 0.459 P -0.917 T 0.15 T 0.066 T Pathogenic 6_159670276_A->G 6 159670276 159670276 A G snp 1282.77 1/1 93 42 1 41 0.98 intronic rs294907 FNDC1 AU NM_032532 exon16 c.79586+62A>G 0.959065 0.997 Uncertain 6_159670303_G->A 6 159670303 159670303 G A snp 411.77 0/1 99 25 9 16 0.64 intronic rs294906 FNDC1 AU NM_032532 exon16 c.79586+89G>A 0.444489 0.3046 Uncertain 6_159672455_C->T 6 159672455 159672455 C T snp 2878.77 0/1 99 250 132 118 0.47 exonic rs294899 FNDC1 AU synonymous SNV NM_032532 exon17 c.C4956T p.D1652D 0.450479 0.3036 0.561895 0.6050 0.2682 0.000 P -1.042 T Likely benign 6_159677498_C->T 6 159677498 159677498 C T snp 2656.77 1/1 99 78 0 78 1.0 intronic rs294890 FNDC1 AU NM_032532 exon18 c.86926-56C>T 0.596246 0.6587 Uncertain 6_159677840_G->A 6 159677840 159677840 G A snp 543.77 1/1 42 14 0 14 1.0 intronic rs294889 FNDC1 AU NM_032532 exon18 c.87035+177G>A 0.596246 0.6587 Uncertain 6_159682206_C->T 6 159682206 159682206 C T snp 3253.77 1/1 99 113 0 113 1.0 intronic rs294883 FNDC1 AU NM_032532 exon19 c.91593-15C>T 0.642173 0.6577 0.680433 0.6910 0.5935 Uncertain 6_159692321_G->A 6 159692321 159692321 G A snp 2357.77 1/1 99 80 0 80 1.0 intronic rs409691 FNDC1 AU NM_032532 exon23 c.101730-37G>A 0.601837 0.6558 0.647443 0.6948 0.6226 Uncertain 6_159692405_C->T 6 159692405 159692405 C T snp 1252.77 0/1 99 126 68 58 0.46 exonic rs3814448 FNDC1 AU synonymous SNV NM_032532 exon23 c.C5616T p.I1872I 0.152356 0.3562 0.081938 0.0838 0.3406 1.0 P -1.014 T Likely benign 6_159692559_G->A 6 159692559 159692559 G A snp 906.77 1/1 66 28 0 28 1.0 UTR3 rs455162 FNDC1 AU 0.601637 0.6558 Uncertain 6_159692596_T->C 6 159692596 159692596 T C snp 96.28 1/1 9 3 0 3 1.0 UTR3 rs419009 FNDC1 AU 0.909345 0.994 Uncertain 6_160113299_G->A 6 160113299 160113299 G A snp 34.77 0/1 63 5 3 2 0.4 intronic SOD2 AU NM_000636 exon4 c.10168-393G>A Uncertain 6_160114168_T->C 6 160114168 160114168 T C snp 697.77 0/1 99 66 36 30 0.45 intronic rs5746094 SOD2 AU NM_000636 exon5 c.10652-8T>C 0.273562 0.4196 0.189680 0.2747 0.4645 Uncertain 6_160114311_G->C 6 160114311 160114311 G C snp 455.77 0/1 99 29 11 18 0.62 UTR5 rs5746092 SOD2 AU 0.274561 0.4196 ID=CR1314041;DIS=Hearing loss, age-related, association with;TAG=DP;PUB=23500038 DP Uncertain 6_160114366_C->T 6 160114366 160114366 C T snp 80.77 0/1 89 6 3 3 0.5 upstream rs5746091 SOD2 AU Uncertain 6_160131926_G->C 6 160131926 160131926 G C snp 98.77 0/1 99 9 5 4 0.44 intergenic rs373793537 SOD2 AU Uncertain 6_160133957_G->A 6 160133957 160133957 G A snp 1653.77 0/1 99 143 74 69 0.48 intergenic rs752779 SOD2 AU 0.743011 0.5903 Uncertain 6_160159907_A->G 6 160159907 160159907 A G snp 310.77 0/1 99 27 12 15 0.56 intronic rs6930976 WTAP AU NM_152858 exon3 c.2724-114A>G 0.273562 0.4256 Uncertain 6_160169258_G->T 6 160169258 160169258 G T snp 1370.77 0/1 99 151 90 61 0.4 exonic rs7766006 WTAP AU synonymous SNV NM_001270531 exon6 c.G309T p.P103P 0.260383 0.4256 0.179994 0.2119 0.3924 Uncertain 6_160174303_A->G 6 160174303 160174303 A G snp 93.77 0/1 60 6 2 4 0.67 intronic rs3822849 WTAP AU NM_004906 exon7 c.17194-188A>G 0.366414 0.4256 Uncertain 6_160182617_C->T 6 160182617 160182617 C T snp 2501.77 0/1 99 230 114 116 0.5 ncRNA_exonic rs2273818 LOC100129518 AU 0.260184 0.4256 0.2328 0.33 Uncertain 6_160182749_G->A 6 160182749 160182749 G A snp 936.77 0/1 99 87 47 40 0.46 ncRNA_intronic rs2277073 LOC100129518 AU 0.760982 0.5883 Uncertain 6_160182845_A->G 6 160182845 160182845 A G snp 152.77 0/1 99 10 5 5 0.5 ncRNA_intronic rs2277072 LOC100129518 AU 0.771166 0.5893 Uncertain 6_160183325_G->C 6 160183325 160183325 G C snp 288.77 0/1 99 13 4 9 0.69 ncRNA_exonic rs2273819 LOC100129518 AU 0.772364 0.5893 Uncertain 6_160198359_C->T 6 160198359 160198359 C T snp 995.77 0/1 99 96 51 45 0.47 exonic rs3464 ACAT2 AO synonymous SNV NM_001303253 exon7 c.C870T p.V290V 0.261182 0.4266 0.179917 0.2122 0.3942 Uncertain 6_160199425_A->- 6 160199425 160199425 A - indel 411.73 0/1 99 32 20 12 0.38 intronic rs34047044 ACAT2 AO NM_005891 exon8 c.16193+113delA 0.287141 0.4266 Uncertain 6_160199687_T->C 6 160199687 160199687 T C snp 1491.77 0/1 99 125 56 69 0.55 splicing rs15982 ACAT2 AO NM_005891 exon9 c.16571-3T>C 0.679313 0.5903 0.682839 0.7416 0.5802 ID=CR043166;DIS=Schizophrenia, association with;TAG=DP;PUB=15121791 DP Pathogenic 6_160200026_A->C 6 160200026 160200026 A C snp 736.77 0/1 99 79 48 31 0.39 UTR3 rs4832 ACAT2 AO 0.261182 0.4266 0.178181 0.2121 0.3953 Uncertain 6_160201295_C->A 6 160201295 160201295 C A snp 604.77 0/1 99 48 23 25 0.52 ncRNA_exonic rs2295901 SNORA20 AU 0.753594 0.5893 0.747820 0.7914 0.5804 Uncertain 6_160201677_G->A 6 160201677 160201677 G A snp 874.77 0/1 99 98 58 40 0.41 intronic rs3818300 TCP1 AU NM_030752 exon4 c.1522+79G>A 0.761981 0.5903 Uncertain 6_160205991_C->A 6 160205991 160205991 C A snp 1717.77 0/1 99 134 64 70 0.52 intronic rs1547093 TCP1 AU NM_030752 exon7 c.5803+112C>A 0.761781 0.5893 Uncertain 6_160206716_T->C 6 160206716 160206716 T C snp 1208.77 0/1 99 101 51 50 0.5 ncRNA_exonic rs3818298 SNORA29 AU 0.260184 0.4256 0.174922 0.2131 0.3927 Uncertain 6_160211421_A->G 6 160211421 160211421 A G snp 52.74 1/1 6 3 1 2 0.67 upstream rs2273826 MRPL18 AU 0.665335 0.5873 Uncertain 6_160211424_A->C 6 160211424 160211424 A C snp 56.74 1/1 6 3 1 2 0.67 upstream rs2273825 MRPL18 AU 0.664936 0.5873 Uncertain 6_160211441_T->C 6 160211441 160211441 T C snp 153.77 0/1 99 10 5 5 0.5 upstream rs16890798 MRPL18 AU 0.286941 0.4246 Uncertain 6_160211445_C->T 6 160211445 160211445 C T snp 146.77 0/1 99 12 7 5 0.42 upstream rs2273824 MRPL18 AU 0.664736 0.5873 Uncertain 6_160211485_T->C 6 160211485 160211485 T C snp 737.77 0/1 99 46 23 23 0.5 upstream rs2273823 MRPL18 AU 0.664936 0.5873 Uncertain 6_160211554_T->G 6 160211554 160211554 T G snp 1487.77 0/1 99 125 63 62 0.5 UTR5 rs1128661 MRPL18 AU 0.664936 0.5873 0.693605 Uncertain 6_160211636_G->A 6 160211636 160211636 G A snp 2144.77 0/1 99 194 101 93 0.48 exonic rs1128670 MRPL18 AU nonsynonymous SNV NM_014161 exon1 c.G17A p.R6Q 0.664936 0.5873 0.669998 0.7408 0.5768 0.06 T 0.0 P -1.006 T 0.076 T 0.005 T Pathogenic 6_160211646_GTT->- 6 160211646 160211648 GTT - indel 4350.73 0/1 99 188 96 92 0.49 exonic rs58504486 MRPL18 AU nonframeshift deletion NM_014161 exon1 c.27_29del p.9_10del 0.665136 0.5883 0.672072 0.7395 0.5728 ID=COSM1567945;OCCURENCE=1(large_intestine) Uncertain 6_160211697_C->T 6 160211697 160211697 C T snp 1654.77 0/1 99 176 102 74 0.42 intronic rs9346795 MRPL18 AU NM_014161 exon1 c.52+26C>T 0.286741 0.4236 0.213978 0.2332 0.3763 Uncertain 6_160211700_C->G 6 160211700 160211700 C G snp 1647.77 0/1 99 175 99 76 0.43 intronic rs9355278 MRPL18 AU NM_014161 exon1 c.52+29C>G 0.271366 0.4236 0.199062 0.2292 0.3775 Uncertain 6_160212268_G->A 6 160212268 160212268 G A snp 228.77 0/1 99 25 13 12 0.48 intronic rs4709371 MRPL18 AU NM_014161 exon2 c.539+110G>A 0.271565 0.4246 Uncertain 6_160221280_CGTGGGCAGCA->- 6 160221280 160221290 CGTGGGCAGCA - indel 2844.73 0/1 99 45 21 24 0.53 UTR5 rs398066447 PNLDC1 AU Uncertain 6_160221475_A->G 6 160221475 160221475 A G snp 322.77 0/1 99 41 26 15 0.37 intronic rs733319 PNLDC1 AU NM_001271862 exon1 c.76+60A>G 0.774161 0.5893 Uncertain 6_160221684_C->T 6 160221684 160221684 C T snp 1256.77 0/1 99 81 34 47 0.58 intronic rs530662142 PNLDC1 AU NM_001271862 exon2 c.464-119C>T 0.000199681 3.147e-05 0.0001 Uncertain 6_160224346_T->C 6 160224346 160224346 T C snp 3109.77 0/1 99 205 83 122 0.6 splicing rs2146163 PNLDC1 AU NM_001271862 exon4 c.3003+4T>C 0.764577 0.5893 0.764724 0.7923 0.5803 Pathogenic 6_160225559_G->C 6 160225559 160225559 G C snp 2106.77 0/1 99 161 79 82 0.51 intronic rs9364536 PNLDC1 AU NM_001271862 exon6 c.4241-21G>C 0.763978 0.5893 0.764340 0.7944 0.5865 Uncertain 6_160226923_A->G 6 160226923 160226923 A G snp 1821.77 0/1 99 142 65 77 0.54 intronic rs6910976 PNLDC1 AU NM_001271862 exon7 c.5675-91A>G 0.293331 0.4286 Uncertain 6_160230911_A->G 6 160230911 160230911 A G snp 256.8 1/1 21 7 0 7 1.0 intronic rs9365098 PNLDC1 AU NM_001271862 exon10 c.9718-146A>G 0.985423 1 Uncertain 6_160234625_G->C 6 160234625 160234625 G C snp 2699.77 0/1 99 249 132 117 0.47 intronic rs13220869 PNLDC1 AU NM_001271862 exon12 c.13293-7G>C 0.595447 0.5367 0.591727 0.6033 0.5621 Uncertain 6_160237489_T->C 6 160237489 160237489 T C snp 915.77 0/1 99 78 37 41 0.53 intronic rs2342480 PNLDC1 AU NM_001271862 exon14 c.16235-85T>C 0.754193 0.6081 Uncertain 6_160239835_T->C 6 160239835 160239835 T C snp 1631.77 1/1 99 46 0 46 1.0 intronic rs9347350 PNLDC1 AU NM_001271862 exon17 c.18638-142T>C 0.790735 0.5972 Uncertain 6_160328620_C->T 6 160328620 160328620 C T snp 1828.77 0/1 99 135 67 68 0.5 exonic rs220721 MAS1 AU synonymous SNV NM_002377 exon1 c.C633T p.V211V 0.339856 0.6677 0.241196 0.2824 0.6662 Uncertain 6_160445793_A->G 6 160445793 160445793 A G snp 945.77 0/1 99 57 22 35 0.61 intronic rs2277070 IGF2R AU NM_000876 exon5 c.55458+57A>G 0.167532 0.2589 Uncertain 6_160448324_C->G 6 160448324 160448324 C G snp 1112.77 0/1 99 84 39 45 0.54 exonic rs8191754 IGF2R AU nonsynonymous SNV NM_000876 exon6 c.C754G p.L252V 0.160343 0.2202 0.133805 0.1405 0.2284 0.04 T 1.000 P -1.188 T 0.873 T 0.754 P ID=CM105033;DIS=Pacreatic cancer, clinical outcome, association with;TAG=DP;PUB=20416304 DP Pathogenic 6_160450402_T->C 6 160450402 160450402 T C snp 48.74 1/1 6 2 0 2 1.0 intronic rs9365125 IGF2R AU NM_000876 exon7 c.60303-179T>C 0.155551 0.2133 Uncertain 6_160453978_A->G 6 160453978 160453978 A G snp 653.77 0/1 99 40 20 20 0.5 exonic rs1570070 IGF2R AU synonymous SNV NM_000876 exon9 c.A1050G p.S350S 0.423922 0.746 0.302138 0.3753 0.7435 Uncertain 6_160464289_G->A 6 160464289 160464289 G A snp 1004.77 0/1 99 104 61 43 0.41 exonic rs894817 IGF2R AU synonymous SNV NM_000876 exon12 c.G1590A p.G530G 0.423722 0.748 0.297094 0.3553 0.7424 Uncertain 6_160465753_T->G 6 160465753 160465753 T G snp 308.77 0/1 99 20 9 11 0.55 intronic rs609207 IGF2R AU NM_000876 exon13 c.75411+64T>G 0.615216 0.6865 Uncertain 6_160468180_G->A 6 160468180 160468180 G A snp 1911.77 0/1 99 156 74 82 0.53 intronic rs2282137 IGF2R AU NM_000876 exon16 c.77912-10G>A 0.0597045 0.0962 0.033369 0.0372 0.0995 Uncertain 6_160468278_A->G 6 160468278 160468278 A G snp 1853.77 0/1 99 183 103 80 0.44 exonic rs998075 IGF2R AU synonymous SNV NM_000876 exon16 c.A2139G p.T713T 0.577476 0.6925 0.516685 0.5299 0.6741 Uncertain 6_160468383_T->C 6 160468383 160468383 T C snp 372.77 0/1 99 35 23 12 0.34 intronic rs998074 IGF2R AU NM_000876 exon16 c.78090+15T>C 0.573083 0.6925 0.507996 0.5357 0.6784 Uncertain 6_160479924_C->T 6 160479924 160479924 C T snp 1266.77 0/1 99 99 47 52 0.53 intronic rs17847638 IGF2R AU NM_000876 exon22 c.89659-13C>T 0.00579073 0.0278 0.000077 0.0025 0.0327 Uncertain 6_160489098_GT->- 6 160489098 160489099 GT - indel 253.73 0/1 38 13 2 11 0.85 intronic IGF2R AU NM_000876 exon30 c.99002-182_99002-181delGT Uncertain 6_160493117_C->T 6 160493117 160493117 C T snp 709.77 0/1 99 52 27 25 0.48 intronic rs2297360 IGF2R AU NM_000876 exon32 c.102790+49C>T 0.0652955 0.0933 0.039366 0.0389 0.0997 Uncertain 6_160493834_G->A 6 160493834 160493834 G A snp 1251.77 0/1 99 100 45 55 0.55 exonic rs2230044 IGF2R AU synonymous SNV NM_000876 exon33 c.G4608A p.A1536A 0.0595048 0.0933 0.034830 0.0376 0.0997 Uncertain 6_160494409_A->G 6 160494409 160494409 A G snp 2797.77 0/1 99 249 140 109 0.44 exonic rs629849 IGF2R AU nonsynonymous SNV NM_000876 exon34 c.A4855G p.R1619G 0.903155 0.8423 0.910657 0.8963 0.8362 1 T 0.0 P -0.945 T 0.0 T 0.0 T Pathogenic 6_160496817_T->C 6 160496817 160496817 T C snp 345.77 0/1 99 50 34 16 0.32 intronic rs2297361 IGF2R AU NM_000876 exon36 c.106600-61T>C 0.0664936 0.0952 Uncertain 6_160505199_C->G 6 160505199 160505199 C G snp 1666.77 1/1 99 58 0 58 1.0 exonic rs614754 IGF2R AU synonymous SNV NM_000876 exon40 c.C6051G p.L2017L 0.996006 1 0.989697 0.9918 1 Uncertain 6_160511250_T->A 6 160511250 160511250 T A snp 339.77 0/1 99 17 5 12 0.71 intronic rs1050026 IGF2R AU NM_000876 exon44 c.120857+115T>A 0.526957 0.6915 Uncertain 6_160517481_C->T 6 160517481 160517481 C T snp 1079.77 0/1 99 87 43 44 0.51 exonic rs1803989 IGF2R AU synonymous SNV NM_000876 exon45 c.C6666T p.L2222L 0.229433 0.4216 0.115716 0.1492 0.4174 Uncertain 6_160524671_A->G 6 160524671 160524671 A G snp 394.77 0/1 99 26 11 15 0.58 intronic rs2297369 IGF2R AU NM_000876 exon47 c.134499-106A>G 0.445088 0.5456 Uncertain 6_160551093_T->G 6 160551093 160551093 T G snp 260.77 0/1 99 23 12 11 0.48 intronic rs4646272 SLC22A1 AU NM_153187 exon2 c.8168-42T>G 0.199481 0.5139 0.068891 0.1398 0.5275 Uncertain 6_160551204_G->C 6 160551204 160551204 G C snp 1525.77 0/1 99 112 49 63 0.56 exonic rs683369 SLC22A1 AU nonsynonymous SNV NM_003057 exon2 c.G480C p.L160F 0.876198 0.8542 0.836921 0.8279 0.8593 0.68 T 0.010 P -1.089 T 0.004 T 0.047 T Pathogenic 6_160557515_G->A 6 160557515 160557515 G A snp 1796.77 0/1 99 120 51 69 0.57 intronic rs2282142 SLC22A1 AU NM_153187 exon6 c.14608-60G>A 0.0601038 0.127 Uncertain 6_160557643_C->T 6 160557643 160557643 C T snp 2959.77 0/1 99 250 119 131 0.52 exonic rs2282143 SLC22A1 AU nonsynonymous SNV NM_003057 exon6 c.C1022T p.P341L 0.0662939 0.126 0.032600 0.0384 0.1326 0.01 T 1.000 D 0.407 D 0.999 D 0.972 D ID=CM041849;DIS=Reduced function;TAG=FP;PUB=12719534 FP Pathogenic 6_160560845_A->G 6 160560845 160560845 A G snp 1898.77 0/1 99 154 66 88 0.57 exonic rs628031 SLC22A1 AU nonsynonymous SNV NM_003057 exon7 c.A1222G p.M408V 0.6877 0.7411 0.637629 0.6405 0.7307 0.84 T 0.0 P -1.097 T 0.0 T 0.001 T Pathogenic 6_160560898_TGGTAAGT->- 6 160560898 160560905 TGGTAAGT - indel 6460.73 0/1 99 136 55 81 0.6 exonic rs113569197 SLC22A1 AU frameshift deletion NM_003057 exon7 c.1275_1276del p.P425fs 0.689497 0.7411 0.606588 0.6122 0.7106 ID=COSM1163664;OCCURENCE=10(large_intestine),1(pancreas) Pathogenic 6_160575985_C->T 6 160575985 160575985 C T snp 1326.77 1/1 96 46 0 46 1.0 intronic rs2297374 SLC22A1 AU NM_003057 exon9 c.32975+43C>T 0.391174 0.3363 0.433108 0.3862 0.3381 Uncertain 6_160645832_C->T 6 160645832 160645832 C T snp 1959.77 0/1 99 175 94 81 0.46 exonic rs316003 SLC22A2 AU synonymous SNV NM_003058 exon10 c.G1506A p.V502V 0.693091 0.7966 0.670690 0.7631 0.7984 Uncertain 6_160663469_A->G 6 160663469 160663469 A G snp 1149.77 0/1 99 91 47 44 0.48 intronic rs8177518 SLC22A2 AU NM_003058 exon4 c.24971+35A>G 0.0165735 0.0784 0.000308 0.0049 0.0613 Uncertain 6_160666660_-->C 6 160666660 160666660 - C indel 699.73 0/1 99 41 16 25 0.61 intronic rs11422119 SLC22A2 AU NM_003058 exon6 c.28114+83insC 0.688099 0.7986 Uncertain 6_160670282_A->C 6 160670282 160670282 A C snp 2260.77 0/1 99 162 66 96 0.59 exonic rs316019 SLC22A2 AU nonsynonymous SNV NM_003058 exon4 c.T808G p.S270A 0.86262 0.8641 0.879133 0.8933 0.8763 0.1 T 0.0 P -1.008 T 0.364 T 0.37 T ID=CM024424;DIS=Altered transporter function;TAG=DFP;PUB=12142729 DFP Pathogenic 6_160670494_A->G 6 160670494 160670494 A G snp 951.77 0/1 99 60 22 38 0.63 intronic rs316018 SLC22A2 AU NM_003058 exon8 c.31953+78A>G 0.719449 0.7768 Uncertain 6_160670533_C->T 6 160670533 160670533 C T snp 537.77 0/1 99 33 13 20 0.61 intronic rs316017 SLC22A2 AU NM_003058 exon8 c.31953+117C>T 0.710064 0.7768 Uncertain 6_160671500_T->C 6 160671500 160671500 T C snp 616.77 0/1 99 52 28 24 0.46 intronic rs316016 SLC22A2 AU NM_003058 exon9 c.33116-79T>C 0.709864 0.7768 0.7687 0.7790 Uncertain 6_160677614_G->C 6 160677614 160677614 G C snp 1378.77 0/1 99 126 64 62 0.49 intronic rs2774230 SLC22A2 AU NM_003058 exon10 c.39182-31G>C 0.725839 0.872 0.679379 0.7714 0.8662 Uncertain 6_160858188_G->A 6 160858188 160858188 G A snp 3694.77 1/1 99 130 0 130 1.0 exonic rs2292334 SLC22A3 AU synonymous SNV NM_021977 exon7 c.G1233A p.A411A 0.310903 0.4603 0.286560 0.3480 0.4469 Uncertain 6_160868654_C->T 6 160868654 160868654 C T snp 180.9 1/1 15 6 0 6 1.0 intronic rs3918285 SLC22A3 AU NM_021977 exon10 c.99299-96C>T 0.290535 0.4623 Uncertain 6_160868668_A->G 6 160868668 160868668 A G snp 304.78 1/1 24 8 0 8 1.0 intronic rs3918286 SLC22A3 AU NM_021977 exon10 c.99299-82A>G 0.290535 0.4623 Uncertain 6_160868688_C->- 6 160868688 160868688 C - indel 587.73 1/1 48 16 0 16 1.0 intronic rs3918287 SLC22A3 AU NM_021977 exon10 c.99299-62delC 0.290535 0.4623 Uncertain 6_160872151_C->T 6 160872151 160872151 C T snp 5217.77 1/1 99 181 0 181 1.0 UTR3 rs1810126 SLC22A3 AU 0.300719 0.4613 0.287560 Uncertain 6_160899421_C->T 6 160899421 160899421 C T snp 108.77 0/1 99 10 6 4 0.4 ncRNA_intronic LPAL2 AU Uncertain 6_160953406_G->T 6 160953406 160953406 G T snp 479.77 0/1 99 35 19 16 0.46 intronic LPA AU NM_005577 exon2 c.802-156G>T Uncertain 6_160969629_A->G 6 160969629 160969629 A G snp 2443.77 1/1 99 87 0 87 1.0 exonic rs1801693 LPA AU nonsynonymous SNV NM_005577 exon32 c.T5036C p.M1679T 0.648163 0.4494 0.746271 0.6528 0.4561 1 T 0.000 P -0.983 T 0.053 T 0.051 T Pathogenic 6_160969738_C->G 6 160969738 160969738 C G snp 2026.77 1/1 99 81 0 81 1.0 intronic rs10755578 LPA AU NM_005577 exon9 c.16931+47C>G 0.409545 0.4444 0.428011 0.4473 0.4525 Uncertain 6_160977375_A->G 6 160977375 160977375 A G snp 135.03 1/1 12 4 0 4 1.0 intronic rs9457938 LPA AU NM_005577 exon10 c.24456+159A>G 0.938498 1 Uncertain 6_160998148_G->T 6 160998148 160998148 G T snp 38.77 0/1 67 6 4 2 0.33 intronic rs3798221 LPA AU NM_005577 exon12 c.45407-19G>T 0.23143 0.4107 0.170288 0.2150 0.3962 Uncertain 6_161007360_C->T 6 161007360 161007360 C T snp 263.77 0/1 99 22 11 11 0.5 intronic rs9365178 LPA AU NM_005577 exon15 c.54720-120C>T 0.214856 0.4107 Uncertain 6_161007496_G->C 6 161007496 161007496 G C snp 1224.77 0/1 99 110 57 53 0.48 exonic rs7765781 LPA AU nonsynonymous SNV NM_005577 exon26 c.C4114G p.L1372V 0.414936 0.4107 0.411750 0.3625 0.3970 0.59 T 0.0 P -1.079 T 0.073 T 0.008 T Pathogenic 6_161007538_G->C 6 161007538 161007538 G C snp 1158.77 0/1 99 108 54 54 0.5 exonic rs7765803 LPA AU nonsynonymous SNV NM_005577 exon26 c.C4072G p.L1358V 0.409145 0.4107 0.406741 0.3602 0.3975 1 T 0.0 P -1.036 T 0.15 T 0.019 T Pathogenic 6_161010766_A->T 6 161010766 161010766 A T snp 1724.77 0/1 99 132 58 74 0.56 intronic rs7453899 LPA AU NM_005577 exon16 c.57984+22A>T 0.408746 0.4137 0.405622 0.3603 0.3973 Uncertain 6_161016349_G->A 6 161016349 161016349 G A snp 2446.77 0/1 99 204 104 100 0.49 intronic rs199808847 LPA AU NM_005577 exon19 c.63625-36G>A 0.0004 0.0015 Uncertain 6_161026197_G->A 6 161026197 161026197 G A snp 742.77 0/1 99 91 53 38 0.42 exonic rs117174672 LPA AU synonymous SNV NM_005577 exon19 c.C2826T p.H942H 0.0327476 0.0228 0.026607 0.0400 0.0197 Uncertain 6_161136058_T->A 6 161136058 161136058 T A snp 148.77 0/1 99 11 5 6 0.55 intronic rs4252105 PLG AR NM_000301 exon6 c.12610+112T>A 0.347843 0.4514 Uncertain 6_161137523_T->A 6 161137523 161137523 T A snp 133.77 0/1 99 15 10 5 0.33 intronic rs4252108 PLG AR NM_000301 exon7 c.14340-153T>A 0.586262 0.4563 Uncertain 6_161137779_T->C 6 161137779 161137779 T C snp 2258.77 0/1 99 175 87 88 0.5 exonic rs14224 PLG AR synonymous SNV NM_000301 exon7 c.T771C p.C257C 0.44988 0.4563 0.453329 0.4217 0.4383 Uncertain 6_161139480_C->T 6 161139480 161139480 C T snp 1245.77 0/1 99 98 47 51 0.52 exonic rs1130656 PLG AR synonymous SNV NM_000301 exon8 c.C942T p.F314F 0.34984 0.4554 0.356912 0.3785 0.4382 Uncertain 6_161139502_G->A 6 161139502 161139502 G A snp 949.77 0/1 99 71 33 38 0.54 intronic rs2295368 PLG AR NM_000301 exon8 c.16152+14G>A 0.34984 0.4554 0.356912 0.3784 0.4384 Uncertain 6_161160083_G->A 6 161160083 161160083 G A snp 881.77 0/1 99 87 50 37 0.43 intronic rs2859879 PLG AR NM_000301 exon16 c.36763-16G>A 0.604832 0.4821 0.713671 0.6148 0.4741 Uncertain 6_161173946_T->G 6 161173946 161173946 T G snp 1452.77 0/1 99 133 64 69 0.52 exonic rs11060 PLG AR synonymous SNV NM_000301 exon19 c.T2286G p.G762G 0.68111 0.9782 0.6119 0.9827 Uncertain 6_161469455_T->A 6 161469455 161469455 T A snp 423.77 1/1 33 11 0 11 1.0 intronic rs9346846 MAP3K4 AU NM_001301072 exon3 c.56684-192T>A 0.94349 0.9911 Uncertain 6_161469774_G->A 6 161469774 161469774 G A snp 5618.77 1/1 99 209 0 209 1.0 exonic rs4559074 MAP3K4 AU nonsynonymous SNV NM_001301072 exon3 c.G470A p.R157H 0.984225 0.995 0.968245 0.9638 0.9984 0.54 T 0.001 P -1.080 T 0.0 T 0.0 T Pathogenic 6_161502094_C->T 6 161502094 161502094 C T snp 1524.77 1/1 99 56 0 56 1.0 intronic rs9347479 MAP3K4 AU NM_001291958 exon7 c.13808+24C>T 0.890176 0.995 0.801707 0.8084 0.9957 Uncertain 6_161509003_T->A 6 161509003 161509003 T A snp 2173.77 1/1 99 68 0 68 1.0 intronic rs9355332 MAP3K4 AU NM_001291958 exon11 c.20724+17T>A 0.950479 0.995 0.907120 0.9055 0.9958 Uncertain 6_161512446_T->A 6 161512446 161512446 T A snp 2719.77 0/1 99 250 140 110 0.44 exonic rs55704622 MAP3K4 AU nonsynonymous SNV NM_001301072 exon12 c.T3009A p.N1003K 0.00519169 0.002 0.005690 0.0053 0.0070 0.25 T 0.999 N -1.024 T 0.007 T 0.026 T Pathogenic 6_161514173_G->A 6 161514173 161514173 G A snp 158.77 0/1 99 9 4 5 0.56 intronic rs3736569 MAP3K4 AU NM_001291958 exon15 c.25826+85G>A 0.0890575 0.2698 Uncertain 6_161517964_T->C 6 161517964 161517964 T C snp 510.77 1/1 39 15 0 15 1.0 intronic rs2177587 MAP3K4 AU NM_001291958 exon17 c.29849-147T>C 0.783946 0.9673 Uncertain 6_161518381_A->G 6 161518381 161518381 A G snp 99.28 1/1 9 3 0 3 1.0 intronic rs6905734 MAP3K4 AU NM_001291958 exon17 c.29946+173A>G 0.785543 0.9673 Uncertain 6_161519351_CTG->- 6 161519351 161519353 CTG - indel 5660.73 1/1 99 114 0 114 1.0 exonic rs113801384 MAP3K4 AU nonframeshift deletion NM_001301072 exon17 c.3554_3556del p.1185_1186del 0.5775 0.5864 ID=COSM450868,COSM450869;OCCURENCE=1(lung),4(breast) Uncertain 6_161529054_A->T 6 161529054 161529054 A T snp 1036.77 0/1 99 84 45 39 0.46 intronic rs143856981 MAP3K4 AU NM_001291958 exon22 c.40739+53A>T 0.00519169 0.002 0.005694 Uncertain 6_161529678_A->C 6 161529678 161529678 A C snp 320.77 0/1 99 20 10 10 0.5 intronic rs2272197 MAP3K4 AU NM_001291958 exon23 c.41512-96A>C 0.159545 0.2629 Uncertain 6_161531006_G->C 6 161531006 161531006 G C snp 222.84 1/1 18 6 0 6 1.0 intronic rs4709493 MAP3K4 AU NM_001291958 exon24 c.42684+60G>C 0.9373 0.9901 Uncertain 6_161532680_G->C 6 161532680 161532680 G C snp 432.77 0/1 99 30 15 15 0.5 intronic rs2280612 MAP3K4 AU NM_001291958 exon25 c.44605-187G>C 0.129193 0.2619 Uncertain 6_161532856_T->- 6 161532856 161532856 T - indel 9458.73 1/1 99 246 0 246 1.0 intronic rs35961625 MAP3K4 AU NM_001291958 exon25 c.44605-11delT 0.901358 0.9891 0.8898 0.9939 Uncertain 6_161557703_A->G 6 161557703 161557703 A G snp 2772.77 1/1 99 101 0 101 1.0 intronic rs6455706 AGPAT4 AU NM_020133 exon1 c.95+37A>G 1 1 0.999000 0.9995 1 Uncertain 6_161970151_TGTG->- 6 161970151 161970154 TGTG - indel 841.73 0/1 99 61 24 37 0.61 intronic rs59889520 PARK2 AU,AR NM_013988 exon4 c.198905+116_198905+119delTGTG 0.234225 0.3532 Uncertain 6_161970231_T->A 6 161970231 161970231 T A snp 264.8 1/1 21 7 0 7 1.0 intronic rs509495 PARK2 AU,AR NM_013988 exon4 c.198905+196T>A 0.817093 0.6786 Uncertain 6_161990483_C->T 6 161990483 161990483 C T snp 1802.77 0/1 99 148 73 75 0.51 intronic rs3765474 PARK2 AU,AR NM_013988 exon5 c.219318+35C>T 0.578075 0.7083 0.545748 0.5530 0.6992 Uncertain 6_161990516_G->C 6 161990516 161990516 G C snp 987.77 0/1 99 100 59 41 0.41 intronic rs3765475 PARK2 AU,AR NM_013988 exon5 c.219318+68G>C 0.689497 0.7113 0.672799 Uncertain 6_162394487_C->T 6 162394487 162394487 C T snp 1061.77 0/1 99 70 29 41 0.59 intronic rs576565848 PARK2 AU,AR NM_013988 exon7 c.623319+38C>T 0.000199681 0.001 4.095e-05 0 Uncertain 6_162622304_A->G 6 162622304 162622304 A G snp 1493.77 1/1 99 58 0 58 1.0 intronic rs4709583 PARK2 AU,AR NM_013987 exon8 c.851154+20A>G 0.950479 0.9881 0.940335 0.9329 0.9894 ID=CS046043;DIS=Parkinson disease, association with;TAG=DP;PUB=15192821 DP Uncertain 6_163235167_-->C 6 163235167 163235167 - C indel 613.73 0/1 99 48 28 20 0.42 intronic rs201609837 PACRG AU NM_001080378 exon3 c.85911-11insC 0.0954473 0.2708 0.061921 0.0742 0.2674 Uncertain 6_163587146_C->G 6 163587146 163587146 C G snp 2933.77 1/1 99 102 0 102 1.0 intronic rs1124951 PACRG AU NM_001080378 exon5 c.361173+76706C>G 0.833067 0.8681 0.8283 0.8955 0 D 0.0 P -1.047 T 0.0 T 0.0 T Uncertain 6_163587315_A->C 6 163587315 163587315 A C snp 1934.77 0/1 99 179 95 84 0.47 intronic rs55803468 PACRG AU NM_001080378 exon5 c.361173+76875A>C 0.192891 0.0625 0.1660 0.1463 Uncertain 6_163611793_C->T 6 163611793 163611793 C T snp 2476.77 1/1 99 89 0 89 1.0 ncRNA_intronic rs6907521 LOC729658 AU 0.761581 0.7639 Uncertain 6_163612103_C->T 6 163612103 163612103 C T snp 78.77 0/1 74 8 5 3 0.38 ncRNA_intronic rs111558082 LOC729658 AU 0.0267572 0.0486 Uncertain 6_163612783_C->A 6 163612783 163612783 C A snp 5479.77 1/1 99 202 2 200 0.99 ncRNA_intronic rs6937392 LOC729658 AU 0.757788 0.7639 0.8152 0.7468 0 D 0.0 P -0.956 T 0.0 T 0.0 T Uncertain 6_163736204_T->C 6 163736204 163736204 T C snp 54.74 1/1 6 2 0 2 1.0 ncRNA_intronic rs9306 PACRG-AS1 AU 0.579673 0.6696 Uncertain 6_163836175_-->CGG 6 163836175 163836175 - CGG indel 974.73 0/1 99 57 34 23 0.4 UTR5 rs760891027 QKI AU 0.0040 0.0069 Uncertain 6_163837087_GGGG->- 6 163837087 163837090 GGGG - indel 903 0/1 12 34 3 31 0.91 intronic rs4055815 QKI AU NM_006775 exon1 c.142+720_142+723delGGGG Uncertain 6_163956329_G->A 6 163956329 163956329 G A snp 56.74 1/1 6 2 0 2 1.0 intronic rs9364692 QKI AU NM_006775 exon4 c.119932+172G>A 0.447684 0.7282 Uncertain 6_163986844_ATTAA->- 6 163986844 163986848 ATTAA - indel 756.73 0/1 99 21 9 12 0.57 intronic rs201474263 QKI AU NM_206853 exon7 c.150752-133_150752-129delATTAA 0.0081869 0.0238 Uncertain 6_164891969_-->TTC 6 164891969 164891969 - TTC indel 1543.73 0/1 99 78 40 38 0.49 intergenic rs3045039 QKI AU Uncertain 6_165108555_T->G 6 165108555 165108555 T G snp 3017.77 0/1 99 220 94 126 0.57 intergenic rs79222572 QKI AU 0.296925 0.5685 Uncertain 6_165693624_C->T 6 165693624 165693624 C T snp 1033.77 1/1 75 42 0 42 1.0 intronic rs1413100 C6orf118 AU NM_144980 exon1 c.54+25C>T 0.442891 0.5496 0.485231 0.5420 0.5429 Uncertain 6_165694945_C->G 6 165694945 165694945 C G snp 535.77 1/1 39 19 0 19 1.0 intronic rs1333501 C6orf118 AU NM_144980 exon2 c.1583-183C>G 0.703474 0.756 Uncertain 6_165863695_-->A 6 165863695 165863695 - A indel 5465.73 1/1 99 130 0 130 1.0 intronic rs397732933 PDE10A AR,AD NM_001130690 exon19 c.117216-34insA 0.9998 1 1.0000 1 Uncertain 6_165989776_C->T 6 165989776 165989776 C T snp 4274.77 1/1 99 146 0 146 1.0 intronic rs1410479 PDE10A AR,AD NM_001130690 exon21 c.210543+32720C>T 0.96885 1 Uncertain 6_166075362_G->T 6 166075362 166075362 G T snp 1237.77 1/1 90 41 0 41 1.0 intronic rs6456003 PDE10A AR,AD NM_001130690 exon22 c.328921-72G>T 1 1 Uncertain 6_166307598_G->A 6 166307598 166307598 G A snp 180.9 1/1 15 5 0 5 1.0 intergenic rs6456028 PDE10A AR,AD 0.530152 0.6587 Uncertain 6_166307718_T->C 6 166307718 166307718 T C snp 4486.77 1/1 99 153 0 153 1.0 intergenic rs6456029 PDE10A AR,AD 0.532348 0.6587 0.6041 0.7308 0 D 0.0 P -0.984 T Uncertain 6_166308090_A->T 6 166308090 166308090 A T snp 4283.77 1/1 99 160 0 160 1.0 intergenic rs2140232 PDE10A AR,AD 0.532548 0.6587 0.5869 0.7313 0 D 0.0 P -1.014 T Uncertain 6_166308091_T->C 6 166308091 166308091 T C snp 4222.77 1/1 99 160 1 159 0.99 intergenic rs2140231 PDE10A AR,AD 0.521965 0.6518 0.5869 0.7313 Uncertain 6_166401512_T->A 6 166401512 166401512 T A snp 1239.77 1/1 93 36 0 36 1.0 ncRNA_exonic rs697475 LINC00473 AU 0.980232 1 Uncertain 6_166571935_C->T 6 166571935 166571935 C T snp 3186.77 0/1 99 234 101 133 0.57 exonic rs35819705 T AR,AD synonymous SNV NM_003181 exon9 c.G1176A p.A392A 0.238419 0.3095 0.228615 0.2762 0.3199 Uncertain 6_166574246_G->A 6 166574246 166574246 G A snp 377.77 0/1 99 33 17 16 0.48 intronic rs3127334 T AR,AD NM_003181 exon2 c.2522-78G>A 0.797324 0.8958 CLINSIG=other;CLNDBN=Neural_tube_defects\x2c_susceptibility_to;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000008660.1;CLNDSDB=.;CLNDSDBID=. Uncertain 6_166576161_T->A 6 166576161 166576161 T A snp 687.77 0/1 99 45 17 28 0.62 intronic rs2278678 T AR,AD NM_003181 exon3 c.4306+53T>A 0.251997 0.3056 0.2771 0.2891 Uncertain 6_166579270_C->T 6 166579270 166579270 C T snp 1044.77 0/1 99 113 66 47 0.42 exonic rs2305089 T AR,AD nonsynonymous SNV NM_003181 exon4 c.G530A p.G177D 0.391773 0.3423 0.428341 0.4745 0.3341 0.8 T 1.000 P -0.824 T 0.168 T 0.201 T ID=CM129921;DIS=Chordoma, increased risk;TAG=DFP;PUB=23064415 DFP Pathogenic 6_166581147_T->C 6 166581147 166581147 T C snp 277.77 0/1 99 26 15 11 0.42 UTR5 rs3099266 T AR,AD 0.707867 0.7877 Uncertain 6_166720806_G->C 6 166720806 166720806 G C snp 2575.77 1/1 99 92 0 92 1.0 exonic rs911203 PRR18 AU synonymous SNV NM_175922 exon1 c.C825G p.S275S 0.797125 0.9206 0.779051 0.7709 0.917 Uncertain 6_166721211_G->T 6 166721211 166721211 G T snp 2382.77 1/1 99 103 2 101 0.98 exonic rs13204594 PRR18 AU synonymous SNV NM_175922 exon1 c.C420A p.T140T 0.764177 0.9206 0.745179 0.7341 0.9076 Uncertain 6_166721220_C->T 6 166721220 166721220 C T snp 867.77 0/1 99 96 55 41 0.43 exonic rs201295448 PRR18 AU synonymous SNV NM_175922 exon1 c.G411A p.L137L 0.00179712 0.0089 0.0010 0.0121 Uncertain 6_166721224_C->G 6 166721224 166721224 C G snp 2292.77 1/1 99 90 0 90 1.0 exonic rs7757150 PRR18 AU nonsynonymous SNV NM_175922 exon1 c.G407C p.C136S 0.801518 0.9206 0.787518 0.7487 0.9089 1 T 0.000 P -0.918 T 0.0 T 0.0 T Pathogenic 6_166721424_C->T 6 166721424 166721424 C T snp 166.77 0/1 63 9 2 7 0.78 exonic rs13205770 PRR18 AU synonymous SNV NM_175922 exon1 c.G207A p.P69P 0.440495 0.6161 0.6301 0.875 Uncertain 6_166737980_G->A 6 166737980 166737980 G A snp 1935.77 0/1 99 172 90 82 0.48 intronic rs4710041 SFT2D1 AU NM_145169 exon3 c.4320-44G>A 0.893171 0.9762 0.829925 0.8347 0.9624 Uncertain 6_166743096_G->C 6 166743096 166743096 G C snp 538.77 0/1 99 45 25 20 0.44 intronic rs116637799 SFT2D1 AU NM_145169 exon6 c.9373+19G>C 0.033746 0.0198 0.018404 0.0216 0.0302 Uncertain 6_166778679_T->G 6 166778679 166778679 T G snp 139.03 1/1 12 4 0 4 1.0 UTR3 rs3728 MPC1 AR 0.445288 0.6389 Uncertain 6_166796433_C->A 6 166796433 166796433 C A snp 767.77 0/1 99 56 26 30 0.54 UTR5 rs1546854 MPC1 AR 0.840655 0.9712 Uncertain 6_166826255_G->A 6 166826255 166826255 G A snp 1200.77 0/1 99 104 58 46 0.44 exonic rs909631 RPS6KA2 AU synonymous SNV NM_021135 exon21 c.C2197T p.L733L 0.620208 0.7431 0.578522 0.6917 0.7637 Uncertain 6_166826304_T->C 6 166826304 166826304 T C snp 2093.77 0/1 99 195 96 99 0.51 exonic rs760670 RPS6KA2 AU synonymous SNV NM_021135 exon21 c.A2148G p.S716S 0.795527 0.7887 0.741377 0.7481 0.7991 Uncertain 6_166827436_T->C 6 166827436 166827436 T C snp 1957.77 0/1 99 129 52 77 0.6 intronic rs2235295 RPS6KA2 AU NM_021135 exon2 c.1170+17T>C 0.726637 0.7748 0.662463 0.6984 0.7844 Uncertain 6_166831694_C->T 6 166831694 166831694 C T snp 867.77 0/1 99 97 61 36 0.37 intronic rs10946164 RPS6KA2 AU NM_021135 exon3 c.5463-18C>T 0.253594 0.2024 0.332385 0.3599 0.2050 Uncertain 6_166862136_G->A 6 166862136 166862136 G A snp 716.77 1/1 54 23 0 23 1.0 intronic rs7746519 RPS6KA2 AU NM_021135 exon8 c.35962-75G>A 0.885184 0.8056 Uncertain 6_166889160_A->G 6 166889160 166889160 A G snp 367.77 0/1 99 37 20 17 0.46 intronic rs2235278 RPS6KA2 AU NM_021135 exon11 c.57144+5767A>G 0.452077 0.5268 Uncertain 6_166889281_T->A 6 166889281 166889281 T A snp 681.77 0/1 99 71 41 30 0.42 intronic rs4373344 RPS6KA2 AU NM_021135 exon11 c.57144+5888T>A 0.451278 0.5278 0.349669 0.3315 0.5453 Uncertain 6_166889332_AG->- 6 166889332 166889333 AG - indel 1322.73 0/1 99 71 36 35 0.49 intronic rs3830731 RPS6KA2 AU NM_021135 exon11 c.57144+5939_57144+5940delAG 0.450679 0.5258 0.374139 0.3315 0.5450 Uncertain 6_166903962_C->T 6 166903962 166903962 C T snp 67.77 0/1 96 6 3 3 0.5 intronic rs2072832 RPS6KA2 AU NM_021135 exon13 c.77909-196C>T 0.290935 0.494 Uncertain 6_166903983_C->T 6 166903983 166903983 C T snp 219.77 0/1 99 14 6 8 0.57 intronic rs2072831 RPS6KA2 AU NM_021135 exon13 c.77909-175C>T 0.602835 0.5972 Uncertain 6_166903987_C->A 6 166903987 166903987 C A snp 257.77 0/1 99 15 7 8 0.53 intronic rs2072830 RPS6KA2 AU NM_021135 exon13 c.77909-171C>A 0.309305 0.5159 Uncertain 6_166904398_A->G 6 166904398 166904398 A G snp 111.77 0/1 99 9 5 4 0.44 intronic rs2281045 RPS6KA2 AU NM_021135 exon13 c.77980+169A>G 0.295527 0.5179 Uncertain 6_166921963_C->- 6 166921963 166921963 C - indel 316.74 1/1 27 11 0 11 1.0 intronic rs3833956 RPS6KA2 AU NM_021135 exon17 c.95521+193delC 0.714856 0.7351 Uncertain 6_166922813_T->C 6 166922813 166922813 T C snp 1811.77 0/1 99 162 79 83 0.51 intronic rs3799670 RPS6KA2 AU NM_021135 exon18 c.97515-951T>C 0.095647 0.1815 0.078406 0.0888 0.1674 Uncertain 6_166952264_G->A 6 166952264 166952264 G A snp 1905.77 1/1 99 66 0 66 1.0 exonic rs1003857 RPS6KA2 AU synonymous SNV NM_021135 exon2 c.C108T p.G36G 0.787939 0.9395 0.721436 0.7924 0.9437 Uncertain 6_167271460_G->T 6 167271460 167271460 G T snp 44.74 1/1 6 3 0 3 1.0 intronic rs9348198 RPS6KA2 AU NM_001006932 exon21 c.445438-227G>T 0.621206 0.9147 Uncertain 6_167271711_T->C 6 167271711 167271711 T C snp 6518.77 1/1 99 244 0 244 1.0 exonic rs943687 RPS6KA2 AU nonsynonymous SNV NM_001006932 exon2 c.A100G p.T34A 0.922125 0.9534 0.940720 0.9643 0.9560 0.63 T 0.000 P -1.098 T 0.0 T 0.0 T Pathogenic 6_167271716_T->C 6 167271716 167271716 T C snp 6098.77 1/1 99 236 0 236 1.0 exonic rs9347162 RPS6KA2 AU nonsynonymous SNV NM_001006932 exon2 c.A95G p.E32G 0.607628 0.875 0.581424 0.7054 0.8758 0.672 P -1.027 T 0.122 T 0.04 T Pathogenic 6_167343195_C->T 6 167343195 167343195 C T snp 2771.77 0/1 99 216 98 118 0.55 exonic rs202105909 RNASET2 AR nonsynonymous SNV NM_003730 exon9 c.G652A p.E218K 0.00119808 0.006 0.000077 0.0002 0.0028 0.9 T 1 N -0.947 T 0.543 P 0.038 P Pathogenic 6_167352104_C->A 6 167352104 167352104 C A snp 893.77 0/1 99 136 97 39 0.29 intronic rs3777722 RNASET2 AR NM_003730 exon4 c.9307-278C>A 0.20627 0.4087 0.070457 0.1705 0.4128 0 D 0.0 P -1.032 T Uncertain 6_167360389_T->C 6 167360389 167360389 T C snp 37.77 0/1 66 13 10 3 0.23 intronic rs2236313 RNASET2 AR NM_003730 exon6 c.17152+162T>C 0.594249 0.6438 0.5875 0.5772 Uncertain 6_167411171_A->G 6 167411171 167411171 A G snp 119.77 0/1 93 8 4 4 0.5 downstream rs80056484 MIR3939 AU Uncertain 6_167411177_A->C 6 167411177 167411177 A C snp 116.77 0/1 99 10 6 4 0.4 downstream rs78490745 MIR3939 AU Uncertain 6_167411182_A->G 6 167411182 167411182 A G snp 101.77 0/1 99 13 9 4 0.31 downstream rs75693466 MIR3939 AU Uncertain 6_167411190_G->C 6 167411190 167411190 G C snp 124.77 0/1 99 14 9 5 0.36 downstream rs79971227 MIR3939 AU Uncertain 6_167411197_A->C 6 167411197 167411197 A C snp 137.77 0/1 99 16 11 5 0.31 downstream rs79539404 MIR3939 AU Uncertain 6_167411204_C->A 6 167411204 167411204 C A snp 137.77 0/1 99 17 12 5 0.29 downstream rs76862349 MIR3939 AU Uncertain 6_167411208_A->C 6 167411208 167411208 A C snp 95.77 0/1 99 17 13 4 0.24 downstream rs79213438 MIR3939 AU Uncertain 6_167411209_G->C 6 167411209 167411209 G C snp 99.77 0/1 99 17 13 4 0.24 downstream rs76548065 MIR3939 AU Uncertain 6_167411214_G->A 6 167411214 167411214 G A snp 133.77 0/1 99 18 13 5 0.28 downstream MIR3939 AU Uncertain 6_167411229_T->C 6 167411229 167411229 T C snp 239.77 0/1 99 30 20 10 0.33 downstream rs78861108 MIR3939 AU Uncertain 6_167411230_G->A 6 167411230 167411230 G A snp 260.77 0/1 99 31 21 10 0.32 downstream rs74566986 MIR3939 AU Uncertain 6_167411234_A->G 6 167411234 167411234 A G snp 379.77 0/1 99 34 21 13 0.38 downstream rs80279467 MIR3939 AU Uncertain 6_167411249_C->T 6 167411249 167411249 C T snp 659.77 0/1 99 47 24 23 0.49 downstream rs13196985 MIR3939 AU 0.1669 0.1552 Uncertain 6_167411258_T->G 6 167411258 167411258 T G snp 950.77 0/1 99 56 23 33 0.59 downstream rs12526527 MIR3939 AU 0.1764 0.1607 Uncertain 6_167411265_C->G 6 167411265 167411265 C G snp 969.77 0/1 99 62 27 35 0.56 downstream rs12524362 MIR3939 AU 0.2840 0.3333 Uncertain 6_167411271_A->G 6 167411271 167411271 A G snp 996.77 0/1 99 67 29 38 0.57 downstream rs12526174 MIR3939 AU 0.2817 0.3393 Uncertain 6_167411287_A->G 6 167411287 167411287 A G snp 1858.77 0/1 99 104 34 70 0.67 downstream rs239937 MIR3939 AU 0.2872 0.35 Uncertain 6_167411298_T->C 6 167411298 167411298 T C snp 1766.77 0/1 99 109 41 68 0.62 ncRNA_exonic rs80032204 MIR3939 AU 0.2888 0.3548 Uncertain 6_167411300_T->C 6 167411300 167411300 T C snp 1783.77 0/1 99 110 42 68 0.62 ncRNA_exonic rs77840042 MIR3939 AU 0.2873 0.3548 Uncertain 6_167411301_G->A 6 167411301 167411301 G A snp 1791.77 0/1 99 111 41 70 0.63 ncRNA_exonic rs75692943 MIR3939 AU 0.2880 0.3548 Uncertain 6_167411334_C->T 6 167411334 167411334 C T snp 386.77 0/1 99 148 117 31 0.21 ncRNA_exonic rs75823810 MIR3939 AU 0.1 0.0333 Uncertain 6_167411337_G->A 6 167411337 167411337 G A snp 384.77 0/1 99 152 121 31 0.2 ncRNA_exonic rs73024232 MIR3939 AU 0.0809 0.0217 Uncertain 6_167411362_G->A 6 167411362 167411362 G A snp 352.77 0/1 99 179 147 32 0.18 ncRNA_exonic rs77072520 MIR3939 AU 0.0339 0 Uncertain 6_167411388_C->G 6 167411388 167411388 C G snp 340.77 0/1 99 191 162 29 0.15 ncRNA_exonic rs73024234 MIR3939 AU 0.0296 0 Uncertain 6_167411401_C->T 6 167411401 167411401 C T snp 260.77 0/1 99 190 164 26 0.14 upstream rs73024236 MIR3939 AU 0.0219 0 Uncertain 6_167411616_C->T 6 167411616 167411616 C T snp 83.77 0/1 30 4 1 3 0.75 upstream rs239936 MIR3939 AU 0.381789 0.3899 Uncertain 6_167413539_T->C 6 167413539 167413539 T C snp 669.77 0/1 99 68 36 32 0.47 intronic rs12212247 FGFR1OP AU NM_007045 exon2 c.647-8T>C 0.26278 0.2758 0.362042 0.3764 0.2789 Uncertain 6_167424293_T->C 6 167424293 167424293 T C snp 482.77 0/1 99 40 20 20 0.5 intronic rs1322077 FGFR1OP AU NM_007045 exon6 c.11400-7T>C 0.299321 0.2738 0.391994 0.5258 0.4802 Uncertain 6_167435798_-->ACAA 6 167435798 167435798 - ACAA indel 316.73 0/1 99 15 9 6 0.4 intronic rs141889698 FGFR1OP AU NM_007045 exon8 c.22996-98insACAA 0.365216 0.3581 Uncertain 6_167436159_T->C 6 167436159 167436159 T C snp 913.77 0/1 99 75 36 39 0.52 intronic rs3752520 FGFR1OP AU NM_007045 exon8 c.23223+36T>C 0.272364 0.2748 0.356657 0.3866 0.2842 Uncertain 6_167440128_C->T 6 167440128 167440128 C T snp 1312.77 0/1 99 140 80 60 0.43 intronic rs2282861 FGFR1OP AU NM_007045 exon10 c.27203+25C>T 0.390375 0.4534 0.435779 0.4376 0.4603 Uncertain 6_167440244_T->C 6 167440244 167440244 T C snp 763.77 0/1 99 101 63 38 0.38 intronic rs2282860 FGFR1OP AU NM_007045 exon10 c.27203+141T>C 0.390575 0.4544 Uncertain 6_167453245_T->C 6 167453245 167453245 T C snp 54.74 1/1 6 2 0 2 1.0 intronic rs151604 FGFR1OP AU NM_007045 exon13 c.40491-146T>C 0.940895 0.999 Uncertain 6_167453519_-->T 6 167453519 167453519 - T indel 879.94 0/1 13 63 6 57 0.9 UTR3 rs368396376 FGFR1OP AU 0.520966 0.5387 0.5074 0.5061 Uncertain 6_167571048_T->C 6 167571048 167571048 T C snp 1303.77 1/1 93 45 0 45 1.0 exonic rs6902566 GPR31 AU nonsynonymous SNV NM_005299 exon1 c.A272G p.H91R 0.986621 1 0.985222 0.9959 1 0.22 T 0.0 P -1.013 T 0.013 T 0.038 T Pathogenic 6_167584353_C->T 6 167584353 167584353 C T snp 1008.77 1/1 78 99 30 69 0.7 intronic rs201194115 TCP10L2 AU Uncertain 6_167587493_G->A 6 167587493 167587493 G A snp 54.77 0/1 83 245 210 35 0.14 intronic rs201243713 TCP10L2 AU NM_001145121 exon3 c.1824+37G>A 0.1575 0.1684 Uncertain 6_167587534_C->T 6 167587534 167587534 C T snp 320.77 0/1 99 158 109 49 0.31 intronic rs1010252 TCP10L2 AU NM_001145121 exon3 c.1824+78C>T Uncertain 6_167590454_G->A 6 167590454 167590454 G A snp 2444.77 1/1 99 107 0 107 1.0 intronic rs3010595 TCP10L2 AU NM_001145121 exon4 c.4852-30G>A 0.6622 0.8285 Uncertain 6_167590541_G->A 6 167590541 167590541 G A snp 1685.77 0/1 99 246 146 100 0.41 exonic rs3737098 TCP10L2 AU synonymous SNV NM_001145121 exon4 c.G417A p.T139T 0.6397 0.6853 Uncertain 6_167590574_G->C 6 167590574 167590574 G C snp 4779.77 1/1 99 234 0 234 1.0 exonic rs2989541 TCP10L2 AU synonymous SNV NM_001145121 exon4 c.G450C p.A150A 0.9955 1 Uncertain 6_167590739_C->T 6 167590739 167590739 C T snp 159.89 0/1 2 13 5 8 0.62 intronic rs62436856 TCP10L2 AU NM_001145121 exon4 c.4990+117C>T 0.780551 0.8542 Uncertain 6_167590750_G->A 6 167590750 167590750 G A snp 140.96 0/1 5 10 4 6 0.6 intronic rs7766490 TCP10L2 AU NM_001145121 exon4 c.4990+128G>A Uncertain 6_167591954_G->A 6 167591954 167591954 G A snp 1178.77 0/1 99 221 158 63 0.29 exonic rs2297463 TCP10L2 AU nonsynonymous SNV NM_001145121 exon5 c.G581A p.R194H 0.1807 0.1552 0.21 T 1 N -0.928 T 0.001 T 0.001 T Pathogenic 6_167591956_C->T 6 167591956 167591956 C T snp 433.77 0/1 99 222 181 41 0.18 exonic rs2297462 TCP10L2 AU stopgain NM_001145121 exon5 c.C583T p.Q195X 0.1587 0.1234 0.26 T 1.000 P Pathogenic 6_167592464_A->G 6 167592464 167592464 A G snp 748.77 1/1 57 28 0 28 1.0 intronic rs1977195 TCP10L2 AU NM_001145121 exon6 c.6866-34A>G 0.982827 1 0.9931 1 Uncertain 6_167592524_T->C 6 167592524 167592524 T C snp 564.77 0/1 99 54 28 26 0.48 exonic rs2989545 TCP10L2 AU nonsynonymous SNV NM_001145121 exon6 c.T683C p.L228P 0.5968 0.5386 0.1 T 0.0 P -0.956 T 0.0 T 0.0 T Pathogenic 6_167592576_G->A 6 167592576 167592576 G A snp 731.77 0/1 99 55 24 31 0.56 exonic rs60976240 TCP10L2 AU synonymous SNV NM_001145121 exon6 c.G735A p.T245T 0.640176 0.5694 0.5810 0.5440 Uncertain 6_167592656_G->C 6 167592656 167592656 G C snp 872.77 1/1 63 30 0 30 1.0 intronic rs4710193 TCP10L2 AU NM_001145121 exon6 c.6978+46G>C 0.837859 0.8919 0.7767 0.8676 Uncertain 6_167595183_T->C 6 167595183 167595183 T C snp 687.77 1/1 60 55 0 55 1.0 intronic rs2989549 TCP10L2 AU NM_001145121 exon8 c.9580-29T>C 0.8514 0.9908 Uncertain 6_167595371_T->C 6 167595371 167595371 T C snp 293.77 0/1 99 83 55 28 0.34 exonic rs202096111 TCP10L2 AU synonymous SNV NM_001145121 exon8 c.T1029C p.H343H 0.313898 0.2867 0.0087 0.0037 Uncertain 6_167595449_A->C 6 167595449 167595449 A C snp 365.77 1/1 30 13 0 13 1.0 UTR3 rs139049693 TCP10L2 AU 0.991613 0.999 0.9241 0.9894 Uncertain 6_167595510_A->C 6 167595510 167595510 A C snp 35.74 1/1 6 2 0 2 1.0 UTR3 rs187193993 TCP10L2 AU Uncertain 6_167622070_C->T 6 167622070 167622070 C T snp 119.03 1/1 12 7 0 7 1.0 intergenic rs671511 TCP10L2 AU 0.914137 1 Uncertain 6_167622105_A->G 6 167622105 167622105 A G snp 281.78 1/1 27 16 0 16 1.0 intergenic rs28661326 TCP10L2 AU 0.447883 0.4871 Uncertain 6_167622205_G->A 6 167622205 167622205 G A snp 1698.77 1/1 99 72 0 72 1.0 intergenic rs28588506 TCP10L2 AU 0.976238 1 Uncertain 6_167622284_C->T 6 167622284 167622284 C T snp 824.77 0/1 99 85 45 40 0.47 intergenic rs35304076 TCP10L2 AU 0.335264 0.4018 Uncertain 6_167622347_A->C 6 167622347 167622347 A C snp 650.77 0/1 99 64 37 27 0.42 intergenic rs9459922 TCP10L2 AU 0.241613 0.3532 Uncertain 6_167622389_A->G 6 167622389 167622389 A G snp 409.77 0/1 99 42 24 18 0.43 intergenic rs6931756 TCP10L2 AU 0.368011 0.4901 Uncertain 6_167622419_T->C 6 167622419 167622419 T C snp 424.77 0/1 99 31 14 17 0.55 intergenic rs6936429 TCP10L2 AU 0.365016 0.4851 Uncertain 6_167704944_T->G 6 167704944 167704944 T G snp 3006.77 1/1 99 107 0 107 1.0 UTR5 rs2076005 UNC93A AU 0.574081 0.5377 0.639243 0.6195 0.5632 Uncertain 6_167709501_G->A 6 167709501 167709501 G A snp 2048.77 0/1 99 185 95 90 0.49 intronic rs2076009 UNC93A AU NM_001143947 exon3 c.4542-18G>A 0.178115 0.2847 0.099031 0.1383 0.3243 Uncertain 6_167709702_G->A 6 167709702 167709702 G A snp 1951.77 0/1 99 156 76 80 0.51 exonic rs2235197 UNC93A AU stopgain NM_018974 exon3 c.G452A p.W151X 0.110423 0.1399 0.071275 0.1093 0.1654 1.0 P Pathogenic 6_167711243_C->T 6 167711243 167711243 C T snp 404.77 0/1 99 24 11 13 0.54 intronic rs1555032 UNC93A AU NM_018974 exon4 c.6455-189C>T 0.205272 0.2232 Uncertain 6_167711418_A->G 6 167711418 167711418 A G snp 2589.77 0/1 99 183 73 110 0.6 intronic rs1555033 UNC93A AU NM_018974 exon4 c.6455-14A>G 0.204872 0.2212 0.231432 0.1904 0.2116 Uncertain 6_167719436_G->A 6 167719436 167719436 G A snp 1935.77 0/1 99 191 101 90 0.47 exonic rs2072767 UNC93A AU nonsynonymous SNV NM_018974 exon6 c.G874A p.V292I 0.280351 0.2629 0.257189 0.2674 0.2627 0.74 T 1.000 P -1.031 T 0.944 T 0.195 D Pathogenic 6_167721227_T->C 6 167721227 167721227 T C snp 2587.77 0/1 99 221 106 115 0.52 intronic rs78945119 UNC93A AU NM_001143947 exon6 c.16289-39T>C 0.0235623 0.0347 0.000846 0.0221 0.0280 Uncertain 6_167728774_T->C 6 167728774 167728774 T C snp 502.77 0/1 99 89 57 32 0.36 exonic rs663606 UNC93A AU nonsynonymous SNV NM_018974 exon8 c.T1208C p.M403T 0.78095 0.8085 0.6814 0.7755 0.75 T 0.0 P -1.056 T 0.0 T 0.0 T Pathogenic 6_167728775_G->A 6 167728775 167728775 G A snp 528.77 0/1 99 91 58 33 0.36 exonic rs9459921 UNC93A AU nonsynonymous SNV NM_018974 exon8 c.G1209A p.M403I 0.268171 0.2847 0.2311 0.2710 0.21 T 0.0 P -1.097 T 0.0 T 0.0 T Pathogenic 6_167738532_T->C 6 167738532 167738532 T C snp 313.77 0/1 84 14 4 10 0.71 upstream rs12527488 TTLL2 AU 0.0678914 0.0347 Uncertain 6_167738576_T->C 6 167738576 167738576 T C snp 687.77 0/1 99 32 7 25 0.78 UTR5 rs7743050 TTLL2 AU 0.0750799 0.0347 Uncertain 6_167738668_G->A 6 167738668 167738668 G A snp 1201.77 0/1 99 83 28 55 0.66 exonic rs12526094 TTLL2 AU nonsynonymous SNV NM_031949 exon1 c.G7A p.G3R 0.0678914 0.0347 0.043498 0.0546 0.0672 0 D 0.0 P -0.922 T 0.0 T 0.0 T Pathogenic 6_167738715_G->A 6 167738715 167738715 G A snp 1316.77 0/1 99 88 33 55 0.63 intronic rs12526096 TTLL2 AU NM_031949 exon1 c.47+7G>A 0.0349441 0.0347 0.010164 0.0277 0.0522 Uncertain 6_167738764_T->C 6 167738764 167738764 T C snp 965.77 0/1 99 68 29 39 0.57 intronic rs55828527 TTLL2 AU NM_031949 exon1 c.47+56T>C 0.0678914 0.0347 0.041174 Uncertain 6_167738838_A->G 6 167738838 167738838 A G snp 537.77 0/1 99 38 16 22 0.58 intronic rs58672528 TTLL2 AU NM_031949 exon1 c.47+130A>G 0.113019 0.0347 Uncertain 6_167738878_A->G 6 167738878 167738878 A G snp 233.77 0/1 99 14 6 8 0.57 intronic rs78722761 TTLL2 AU NM_031949 exon1 c.47+170A>G 0.0227636 0.0298 Uncertain 6_167741293_G->A 6 167741293 167741293 G A snp 78.77 0/1 67 5 2 3 0.6 intronic rs59667554 TTLL2 AU NM_031949 exon1 c.47+2585G>A 0.0792732 0.0347 Uncertain 6_167741578_-->TG 6 167741578 167741578 - TG indel 2375.73 0/1 99 113 60 53 0.47 intronic rs10661173 TTLL2 AU NM_031949 exon1 c.47+2870insTG 0.122005 0.0347 0.0144 0.0076 Uncertain 6_167752274_C->T 6 167752274 167752274 C T snp 862.77 0/1 99 56 22 34 0.61 exonic rs34350976 TTLL2 AU nonsynonymous SNV NM_031949 exon2 c.C187T p.P63S 0.0515176 0.0565 0.026142 0.0315 0.0537 0.75 T 0.0 P -0.950 T 0.0 T 0.0 T Pathogenic 6_167752332_-->TTCCTTCCTTCCTTCA 6 167752332 167752332 - TTCCTTCCTTCCTTCA indel 420.73 0/1 99 15 2 13 0.87 intronic rs776953606 TTLL2 AU NM_031949 exon2 c.13630+41insTTCCTTCCTTCCTTCA 0.0077 0.0256 Uncertain 6_167754661_A->G 6 167754661 167754661 A G snp 2568.77 0/1 99 223 122 101 0.45 exonic rs909545 TTLL2 AU nonsynonymous SNV NM_031949 exon3 c.A1273G p.R425G 0.86222 0.8294 0.830924 0.8078 0.8092 0.26 T 0.0 P -0.930 T 0.005 T 0.001 T Pathogenic 6_167754710_A->C 6 167754710 167754710 A C snp 2320.77 0/1 99 215 119 96 0.45 exonic rs41266331 TTLL2 AU nonsynonymous SNV NM_031949 exon3 c.A1322C p.K441T 0.135583 0.0565 0.145856 0.1100 0.0525 0.41 T 0.0 P -0.918 T 0.276 T 0.053 T Pathogenic 6_167754975_G->T 6 167754975 167754975 G T snp 3064.77 0/1 99 250 125 125 0.5 exonic rs12528714 TTLL2 AU nonsynonymous SNV NM_031949 exon3 c.G1587T p.Q529H 0.0367412 0.0556 0.015916 0.0366 0.0525 0.02 T 1 N -0.947 T 0.976 D 0.735 D ID=COSM150216;OCCURENCE=1(stomach) Pathogenic 6_167771426_G->A 6 167771426 167771426 G A snp 36.79 0/1 23 17 11 6 0.35 intergenic rs4616972 TTLL2 AU 0.493411 0.7004 Uncertain 6_167772755_C->T 6 167772755 167772755 C T snp 1541.77 0/1 99 117 63 54 0.46 intergenic rs61091709 TTLL2 AU 0.198482 0.1319 0.1701 0.1591 Uncertain 6_167786551_T->G 6 167786551 167786551 T G snp 417.53 1/1 3 17 1 16 0.94 downstream rs146852129 TCP10 AU 0.472045 0.5159 Uncertain 6_167786554_T->C 6 167786554 167786554 T C snp 83.77 0/1 99 20 15 5 0.25 downstream TCP10 AU Uncertain 6_167786750_C->A 6 167786750 167786750 C A snp 417.77 0/1 99 250 186 64 0.26 exonic rs143094588 TCP10 AU nonsynonymous SNV NM_004610 exon8 c.G888T p.K296N 0.1928 0.1738 0.77 T 1.000 N -0.981 T 0.0 T 0.0 T Pathogenic 6_167786961_G->T 6 167786961 167786961 G T snp 503.77 0/1 99 61 42 19 0.31 intronic rs151165498 TCP10 AU NM_004610 exon1 c.192+113G>T 0.440695 0.4583 Uncertain 6_167786963_C->T 6 167786963 167786963 C T snp 482.77 0/1 99 55 38 17 0.31 intronic rs201342351 TCP10 AU NM_004610 exon1 c.192+115C>T 0.440695 0.4583 Uncertain 6_167786991_G->A 6 167786991 167786991 G A snp 193.77 0/1 99 23 16 7 0.3 intronic rs199865018 TCP10 AU NM_004610 exon1 c.192+143G>A Uncertain 6_167789404_C->G 6 167789404 167789404 C G snp 1097.77 0/1 99 76 26 50 0.66 intronic rs28409124 TCP10 AU NM_004610 exon3 c.2797-49C>G 0.261781 0.253 0.276876 0.2703 0.1859 Uncertain 6_167789493_T->C 6 167789493 167789493 T C snp 1127.77 0/1 99 89 40 49 0.55 exonic rs3010590 TCP10 AU nonsynonymous SNV NM_004610 exon6 c.A649G p.T217A 0.255192 0.1657 0.2529 0.1753 0.26 T 0.0 P -0.936 T 0.0 T 0.0 T Pathogenic 6_167789590_C->T 6 167789590 167789590 C T snp 701.77 0/1 99 55 23 32 0.58 intronic rs3010591 TCP10 AU NM_004610 exon3 c.2909+25C>T 0.390176 0.3591 0.3885 0.3760 Uncertain 6_167789615_C->T 6 167789615 167789615 C T snp 312.77 0/1 99 40 26 14 0.35 intronic rs58620632 TCP10 AU NM_004610 exon3 c.2909+50C>T 0.416175 0.4501 0.4350 Uncertain 6_167789622_G->A 6 167789622 167789622 G A snp 250.77 0/1 99 40 27 13 0.33 intronic rs60376002 TCP10 AU NM_004610 exon3 c.2909+57G>A Uncertain 6_167791326_A->G 6 167791326 167791326 A G snp 145.77 0/1 99 56 42 14 0.25 intronic TCP10 AU NM_004610 exon5 c.4786-116A>G Uncertain 6_167791530_G->C 6 167791530 167791530 G C snp 348.77 0/1 99 124 71 53 0.43 exonic rs17855837 TCP10 AU nonsynonymous SNV NM_004610 exon4 c.C330G p.D110E 0.58127 0.4821 0.5029 0.4971 1 T 0.0 P -1.009 T 0.0 T 0.0 T Pathogenic 6_167791549_T->G 6 167791549 167791549 T G snp 183.77 0/1 99 97 55 42 0.43 exonic rs3010594 TCP10 AU nonsynonymous SNV NM_004610 exon4 c.A311C p.H104P 0.304972 0.2410 0.2787 0.62 T 0.0 P -0.968 T 0.0 T 0.0 T Pathogenic 6_167794562_A->T 6 167794562 167794562 A T snp 35.74 1/1 6 32 0 32 1.0 intronic rs117618040 TCP10 AU NM_004610 exon6 c.7952-46A>T 0.339058 0.3194 0.0004 0.0006 Uncertain 6_167796415_A->C 6 167796415 167796415 A C snp 466.77 0/1 99 31 12 19 0.61 UTR5 rs9457321 TCP10 AU 0.815096 0.747 0.822821 Uncertain 6_167797844_C->T 6 167797844 167797844 C T snp 1211.77 0/1 99 126 66 60 0.48 intronic rs3737103 TCP10 AU NM_004610 exon8 c.11212-24C>T 0.747404 0.5784 0.7665 0.6322 0 D 0.0 P -1.001 T Uncertain 6_167907677_-->ACACACAC 6 167907677 167907677 - ACACACAC indel 657.73 0/1 99 33 24 9 0.27 intergenic rs374824242 TCP10 AU 0.0746805 0.1329 Uncertain 6_168060257_-->AC 6 168060257 168060257 - AC indel 1906.73 0/1 99 119 45 74 0.62 intergenic rs200326828 TCP10 AU Uncertain 6_168060262_ACACACAT->- 6 168060262 168060269 ACACACAT - indel 3270.73 0/1 99 109 44 65 0.6 intergenic rs201934756 TCP10 AU Uncertain 6_168060289_-->ACAT 6 168060289 168060289 - ACAT indel 1956.73 0/1 99 72 30 42 0.58 intergenic TCP10 AU Uncertain 6_168060347_-->AC 6 168060347 168060347 - AC indel 361.74 1/1 27 14 0 14 1.0 intergenic rs10647590 TCP10 AU Uncertain 6_168060355_T->C 6 168060355 168060355 T C snp 141.77 0/1 99 9 4 5 0.56 intergenic rs200422331 TCP10 AU 0.170327 0.1984 Uncertain 6_168070483_A->G 6 168070483 168070483 A G snp 866.77 1/1 63 26 0 26 1.0 ncRNA_exonic rs9355041 LOC401286 AU 0.717053 0.8909 Uncertain 6_168265102_A->G 6 168265102 168265102 A G snp 2532.77 1/1 99 85 0 85 1.0 intronic rs2301530 MLLT4 AU NM_001040000 exon2 c.37418-128A>G 0.813299 0.8056 0.8531 0.7844 Uncertain 6_168297435_T->C 6 168297435 168297435 T C snp 56.74 1/1 6 2 0 2 1.0 intronic rs643584 MLLT4 AU NM_001040000 exon10 c.69745-122T>C 0.783147 0.8621 Uncertain 6_168297757_-->T 6 168297757 168297757 - T indel 725.73 0/1 99 44 20 24 0.55 intronic rs11459878 MLLT4 AU NM_001040000 exon10 c.69840+105insT 0.579673 0.7946 Uncertain 6_168298875_C->T 6 168298875 168298875 C T snp 955.77 0/1 99 81 42 39 0.48 intronic rs9346511 MLLT4 AU NM_001040000 exon11 c.71072-9C>T 0.346446 0.5972 0.270491 0.3609 0.5888 Uncertain 6_168316118_T->G 6 168316118 168316118 T G snp 660.77 0/1 99 60 31 29 0.48 splicing rs3213591 MLLT4 AU NM_001040000 exon18 c.88301+5T>G 0.628195 0.7956 0.498001 0.5271 0.8074 Pathogenic 6_168317994_C->T 6 168317994 168317994 C T snp 895.77 0/1 99 87 50 37 0.43 intronic rs9364207 MLLT4 AU NM_001040000 exon19 c.90100+82C>T 0.547923 0.7956 Uncertain 6_168319356_G->C 6 168319356 168319356 G C snp 307.77 0/1 51 11 2 9 0.82 intronic rs2273134 MLLT4 AU NM_001040000 exon20 c.91602-58G>C 0.338259 0.5982 Uncertain 6_168323664_A->G 6 168323664 168323664 A G snp 3108.77 0/1 99 246 120 126 0.51 intronic rs2301533 MLLT4 AU NM_001040000 exon21 c.95827+25A>G 0.340256 0.6002 0.262725 0.3525 0.5913 Uncertain 6_168323754_G->A 6 168323754 168323754 G A snp 3349.77 1/1 99 118 0 118 1.0 intronic rs639777 MLLT4 AU NM_001040000 exon21 c.95827+115G>A 0.856629 0.9812 Uncertain 6_168343838_T->C 6 168343838 168343838 T C snp 1300.77 0/1 99 117 65 52 0.44 exonic rs1132306 MLLT4 AU synonymous SNV NM_001207008 exon22 c.T3060C p.Y1020Y 0.55631 0.7927 0.422805 0.5047 0.8068 Uncertain 6_168344880_T->C 6 168344880 168344880 T C snp 155.77 0/1 99 10 4 6 0.6 intronic rs9346632 MLLT4 AU NM_001040000 exon25 c.116927+141T>C 0.570288 0.7927 Uncertain 6_168348401_T->A 6 168348401 168348401 T A snp 318.77 0/1 49 11 2 9 0.82 intronic rs9364210 MLLT4 AU NM_001040000 exon27 c.120720-131T>A 0.267372 0.506 Uncertain 6_168348505_T->- 6 168348505 168348505 T - indel 1576.73 0/1 99 115 48 67 0.58 intronic rs35550837 MLLT4 AU NM_001040000 exon27 c.120720-27delT 0.6112 0.8112 Uncertain 6_168349011_C->T 6 168349011 168349011 C T snp 1127.77 0/1 99 98 48 50 0.51 exonic rs9364371 MLLT4 AU synonymous SNV NM_001207008 exon27 c.C3612T p.I1204I 0.237819 0.3433 0.198601 0.2496 0.3341 Uncertain 6_168376866_T->C 6 168376866 168376866 T C snp 83.77 0/1 99 33 27 6 0.18 exonic rs2015545 HGC6.3 AU nonsynonymous SNV NM_001129895 exon1 c.A467G p.N156S 0.436102 0.6062 0.3552 0.462 Pathogenic 6_168376869_C->T 6 168376869 168376869 C T snp 63.77 0/1 92 34 28 6 0.18 exonic rs201374833 HGC6.3 AU nonsynonymous SNV NM_001129895 exon1 c.G464A p.G155E 0.253994 0.4167 0.2227 0.3543 Pathogenic 6_168376892_A->G 6 168376892 168376892 A G snp 60.77 0/1 89 39 30 9 0.23 exonic rs9355147 HGC6.3 AU synonymous SNV NM_001129895 exon1 c.T441C p.L147L 0.363818 0.4752 0.0069 0.1108 Uncertain 6_168376908_T->C 6 168376908 168376908 T C snp 99.77 0/1 99 36 30 6 0.17 exonic rs2516605 HGC6.3 AU nonsynonymous SNV NM_001129895 exon1 c.A425G p.N142S 0.314297 0.3562 0.0098 0.0034 Pathogenic 6_168376951_T->C 6 168376951 168376951 T C snp 46.77 0/1 75 24 20 4 0.17 exonic rs34562778 HGC6.3 AU nonsynonymous SNV NM_001129895 exon1 c.A382G p.M128V 0.303914 0.4762 0.0272 0.0584 Pathogenic 6_168376953_A->C 6 168376953 168376953 A C snp 137.77 0/1 99 25 17 8 0.32 exonic rs2516607 HGC6.3 AU nonsynonymous SNV NM_001129895 exon1 c.T380G p.V127G 0.567692 0.8006 0.2484 0.5417 Pathogenic 6_168377219_T->G 6 168377219 168377219 T G snp 154.77 0/1 96 13 5 8 0.62 exonic rs76543658 HGC6.3 AU nonsynonymous SNV NM_001129895 exon1 c.A114C p.Q38H 0.294728 0.4454 0.1228 0.2778 Pathogenic 6_168377220_T->G 6 168377220 168377220 T G snp 187.77 0/1 99 13 4 9 0.69 exonic rs79173693 HGC6.3 AU nonsynonymous SNV NM_001129895 exon1 c.A113C p.Q38P 0.235423 0.378 0.0659 0.1419 Pathogenic 6_168377309_G->A 6 168377309 168377309 G A snp 528.77 0/1 99 47 24 23 0.49 exonic rs61743855 HGC6.3 AU synonymous SNV NM_001129895 exon1 c.C24T p.S8S 0.170727 0.2183 0.1946 0.1948 Uncertain 6_168431687_G->A 6 168431687 168431687 G A snp 537.77 0/1 99 20 5 15 0.75 intronic rs2257743 KIF25 AU NM_005355 exon3 c.1262+160G>A 0.181909 0.2996 Uncertain 6_168440640_G->A 6 168440640 168440640 G A snp 46.77 0/1 33 3 1 2 0.67 intronic rs2073632 KIF25 AU NM_005355 exon6 c.10479-104G>A 0.117612 0.2153 Uncertain 6_168442475_C->T 6 168442475 168442475 C T snp 123.78 0/1 25 5 1 4 0.8 intronic rs4708629 KIF25 AU NM_005355 exon7 c.12383-173C>T 0.567692 0.5873 Uncertain 6_168442765_G->A 6 168442765 168442765 G A snp 508.77 0/1 99 46 24 22 0.48 exonic rs2073634 KIF25 AU nonsynonymous SNV NM_005355 exon7 c.G763A p.A255T 0.113818 0.2133 0.060513 0.1256 0.2385 0.11 T 0.0 P -1.043 T 0.518 P 0.047 P Pathogenic 6_168457801_A->G 6 168457801 168457801 A G snp 1861.77 1/1 99 68 0 68 1.0 exonic rs3734898 FRMD1 AU synonymous SNV NM_001122841 exon11 c.T1422C p.A474A 0.860423 0.8482 0.876757 0.8810 0.857 Uncertain 6_168457966_G->A 6 168457966 168457966 G A snp 909.77 0/1 99 85 45 40 0.47 exonic rs3734899 FRMD1 AU synonymous SNV NM_001122841 exon11 c.C1257T p.D419D 0.395567 0.4871 0.359065 0.4466 0.4971 Uncertain 6_168458074_G->A 6 168458074 168458074 G A snp 263.77 0/1 99 25 13 12 0.48 intronic rs3734900 FRMD1 AU NM_024919 exon1 c.243+55G>A 0.45627 0.5337 Uncertain 6_168459790_G->T 6 168459790 168459790 G T snp 624.77 0/1 99 63 34 29 0.46 intronic rs1465182 FRMD1 AU NM_024919 exon2 c.2027-13G>T 0.482827 0.5407 0.450147 0.5505 0.5462 Uncertain 6_168459792_G->A 6 168459792 168459792 G A snp 530.77 0/1 99 62 34 28 0.45 intronic rs2269680 FRMD1 AU NM_024919 exon2 c.2027-11G>A 0.40655 0.4901 0.373165 0.4670 0.4779 Uncertain 6_168459845_G->C 6 168459845 168459845 G C snp 1920.77 1/1 99 67 0 67 1.0 exonic rs1548349 FRMD1 AU nonsynonymous SNV NM_001122841 exon10 c.C1162G p.Q388E 0.86861 0.8482 0.887303 0.8788 0.8440 0.97 T 0.0 P -1.030 T 0.0 T 0.0 T Pathogenic 6_168462765_C->T 6 168462765 168462765 C T snp 62.74 1/1 6 4 0 4 1.0 intronic rs3823460 FRMD1 AU NM_024919 exon4 c.4885+104C>T 0.477436 0.5466 Uncertain 6_168463153_G->A 6 168463153 168463153 G A snp 39.77 0/1 68 5 3 2 0.4 intronic rs3734901 FRMD1 AU NM_024919 exon5 c.5797-420G>A 0.0569089 0.1627 Uncertain 6_168463826_C->T 6 168463826 168463826 C T snp 347.78 1/1 27 9 0 9 1.0 intronic rs902394 FRMD1 AU NM_024919 exon5 c.5863+187C>T 0.949281 0.9663 Uncertain 6_168467624_G->A 6 168467624 168467624 G A snp 2387.77 0/1 99 173 74 99 0.57 intronic rs73028331 FRMD1 AU NM_024919 exon8 c.9735+113G>A 0.0776757 0.1657 Uncertain 6_168467737_G->A 6 168467737 168467737 G A snp 6659.77 1/1 99 248 0 248 1.0 intronic rs3816861 FRMD1 AU NM_024919 exon8 c.9735+226G>A 0.713658 0.6895 0.7606 0.7269 Uncertain 6_168468186_G->T 6 168468186 168468186 G T snp 3679.77 1/1 99 139 0 139 1.0 intronic rs6906979 FRMD1 AU NM_024919 exon9 c.10350+60G>T 0.874401 0.8413 0.886772 0.8803 0.8481 Uncertain 6_168475764_G->T 6 168475764 168475764 G T snp 1576.77 1/1 99 55 1 54 0.98 intronic rs9364396 FRMD1 AU NM_024919 exon10 c.18148-160G>T 0.851038 0.8383 Uncertain 6_168475822_A->G 6 168475822 168475822 A G snp 4169.77 1/1 99 139 0 139 1.0 intronic rs3816859 FRMD1 AU NM_024919 exon10 c.18148-102A>G 0.861222 0.8383 Uncertain 6_168476198_A->G 6 168476198 168476198 A G snp 876.77 1/1 66 26 0 26 1.0 intronic rs2306943 FRMD1 AU NM_024919 exon10 c.18239+183A>G 0.838658 0.8373 Uncertain 6_168476571_C->T 6 168476571 168476571 C T snp 558.77 1/1 42 16 0 16 1.0 intronic rs9295042 FRMD1 AU NM_001122841 exon11 c.18770+25C>T Uncertain 6_168476583_A->G 6 168476583 168476583 A G snp 390.77 1/1 30 11 0 11 1.0 intronic rs9295043 FRMD1 AU NM_001122841 exon11 c.18770+37A>G Uncertain 6_168479604_G->A 6 168479604 168479604 G A snp 3679.77 1/1 99 131 0 131 1.0 exonic rs34054991 FRMD1 AU synonymous SNV NM_024919 exon1 c.C171T p.L57L 0.843251 0.8234 0.869291 0.8533 0.8204 Uncertain 6_168479790_C->T 6 168479790 168479790 C T snp 3844.77 1/1 99 147 0 147 1.0 UTR5 rs11750985 FRMD1 AU 0.84345 0.8244 0.869194 0.8559 0.8221 Uncertain 6_168481899_C->G 6 168481899 168481899 C G snp 65.77 0/1 94 6 3 3 0.5 intergenic rs59961338 FRMD1 AU 0.096246 0.1567 Uncertain 6_168482110_C->T 6 168482110 168482110 C T snp 2070.77 1/1 99 72 0 72 1.0 intergenic rs4708429 FRMD1 AU 0.847843 0.8244 0.8731 0.7537 0.91 T 0.0 P -0.958 T Uncertain 6_168482329_C->T 6 168482329 168482329 C T snp 83.28 1/1 9 4 0 4 1.0 intergenic rs4708430 FRMD1 AU 0.84345 0.8244 Uncertain 6_168694594_C->T 6 168694594 168694594 C T snp 724.77 0/1 99 88 52 36 0.41 exonic rs7764061 DACT2 AU nonsynonymous SNV NM_001286351 exon6 c.G823A p.G275R 0.852436 0.9325 0.7946 0.9528 0 D 0.0 P -0.563 T Pathogenic 6_168695309_C->T 6 168695309 168695309 C T snp 475.77 0/1 99 37 18 19 0.51 splicing rs4708710 DACT2 AU NM_001286351 exon3 c.739-3C>T 0.60643 0.87 0.6582 0.9235 Pathogenic 6_168695345_G->A 6 168695345 168695345 G A snp 711.77 0/1 99 60 28 32 0.53 exonic rs4708711 DACT2 AU nonsynonymous SNV NM_001286351 exon4 c.C698T p.P233L 0.60603 0.87 0.6503 0.9192 0.09 T 0.0 P -0.860 T Pathogenic 6_168708316_G->A 6 168708316 168708316 G A snp 1755.77 0/1 99 151 70 81 0.54 exonic rs78695494 DACT2 AU synonymous SNV NM_001286350 exon3 c.C1611T p.G537G 0.0213658 0.0744 0.000657 0.0047 0.0634 Uncertain 6_168708751_A->G 6 168708751 168708751 A G snp 894.77 0/1 99 67 29 38 0.57 exonic rs10945499 DACT2 AU synonymous SNV NM_001286350 exon3 c.T1176C p.S392S 0.508586 0.3244 0.472186 0.4678 0.3093 Uncertain 6_168708816_T->G 6 168708816 168708816 T G snp 1644.77 0/1 99 106 42 64 0.6 exonic rs10945501 DACT2 AU nonsynonymous SNV NM_001286350 exon3 c.A1111C p.T371P 0.504393 0.3234 0.4538 0.2953 0.48 T 0.0 P -1.031 T 0.0 T 0.0 T Pathogenic 6_168709385_T->C 6 168709385 168709385 T C snp 2420.77 0/1 99 250 147 103 0.41 exonic rs6925614 DACT2 AU nonsynonymous SNV NM_001286350 exon3 c.A542G p.E181G 0.3752 0.246 0.393123 0.3907 0.2469 0.11 T 0.000 P -1.007 T 0.0 T 0.0 T Pathogenic 6_168711170_A->G 6 168711170 168711170 A G snp 969.77 0/1 99 76 31 45 0.59 intronic rs1551988 DACT2 AU NM_214462 exon2 c.3015+44A>G 0.253395 0.126 0.238283 0.2625 0.1129 Uncertain 6_168719924_C->T 6 168719924 168719924 C T snp 79.77 0/1 99 10 6 4 0.4 intronic rs4292501 DACT2 AU NM_214462 exon4 c.11956-143C>T 0.500998 0.8155 Uncertain 6_168764044_A->T 6 168764044 168764044 A T snp 88.28 1/1 9 3 0 3 1.0 intergenic DACT2 AU Uncertain 6_168764061_-->T 6 168764061 168764061 - T indel 189.87 1/1 15 5 0 5 1.0 intergenic rs144169301 DACT2 AU 0.995208 0.998 Uncertain 6_168764107_GAGAGGGAGATT->- 6 168764107 168764118 GAGAGGGAGATT - indel 1234.74 1/1 27 9 0 9 1.0 intergenic rs72353239 DACT2 AU 0.480431 0.3065 Uncertain 6_168842014_A->G 6 168842014 168842014 A G snp 151.77 0/1 99 22 14 8 0.36 UTR5 rs76776636 SMOC2 AR 0.395168 0.4593 0.161519 0.3114 0.4776 Uncertain 6_168842113_T->G 6 168842113 168842113 T G snp 343.77 0/1 99 26 12 14 0.54 exonic rs73270928 SMOC2 AR synonymous SNV NM_022138 exon1 c.T63G p.A21A 0.395367 0.4593 0.166172 0.3162 0.4902 Uncertain 6_169055891_C->T 6 169055891 169055891 C T snp 155.77 0/1 99 47 33 14 0.3 intronic rs34108025 SMOC2 AR NM_001166412 exon11 c.211858+1983C>T Uncertain 6_169064933_T->C 6 169064933 169064933 T C snp 521.77 0/1 99 63 35 28 0.44 intronic rs2275919 SMOC2 AR NM_001166412 exon12 c.222741+142T>C 0.351238 0.2996 0.5070 0.3113 Uncertain 6_169065126_G->A 6 169065126 169065126 G A snp 454.77 0/1 99 36 19 17 0.47 intronic rs9364271 SMOC2 AR NM_001166412 exon12 c.222741+335G>A 0.246206 0.4712 0.2455 0.4271 Uncertain 6_169617840_A->G 6 169617840 169617840 A G snp 992.77 1/1 72 39 0 39 1.0 UTR3 rs12435 THBS2 AU 0.261382 0.2361 0.235217 Uncertain 6_169617935_A->- 6 169617935 169617935 A - indel 546.73 1/1 57 22 0 22 1.0 intronic rs58423957 THBS2 AU NM_003247 exon1 c.8+11delA 0.658546 0.4722 0.6939 0.5687 Uncertain 6_169619687_G->A 6 169619687 169619687 G A snp 243.84 0/1 18 11 1 10 0.91 intronic rs9800623 THBS2 AU NM_003247 exon2 c.2376-605G>A 0.222045 0.1518 Uncertain 6_169619933_-->TTCCTTCC 6 169619933 169619933 - TTCCTTCC indel 8525.73 1/1 99 91 0 91 1.0 intronic rs113367461 THBS2 AU NM_003247 exon2 c.2376-359insTTCCTTCC 0.689583 0.6583 0.4816 Uncertain 6_169620247_T->C 6 169620247 169620247 T C snp 1197.77 1/1 87 35 0 35 1.0 intronic rs9393165 THBS2 AU NM_003247 exon2 c.2376-45T>C 0.685304 0.4712 0.734584 0.6700 0.4954 Uncertain 6_169620451_AAG->- 6 169620451 169620453 AAG - indel 3286.73 0/1 99 128 53 75 0.59 intronic rs140725844 THBS2 AU NM_003247 exon2 c.2516+19_2516+21delAAG 0.221046 0.1518 0.215335 0.2058 0.1510 Uncertain 6_169620541_G->A 6 169620541 169620541 G A snp 364.77 0/1 99 26 12 14 0.54 intronic rs36045897 THBS2 AU NM_003247 exon2 c.2516+109G>A 0.222045 0.1518 Uncertain 6_169621536_A->G 6 169621536 169621536 A G snp 3993.77 1/1 99 149 0 149 1.0 exonic rs1132742 THBS2 AU synonymous SNV NM_003247 exon21 c.T3360C p.T1120T 0.265775 0.2361 0.243811 0.2215 0.2436 Uncertain 6_169622490_G->A 6 169622490 169622490 G A snp 2950.77 0/1 99 249 135 114 0.46 exonic rs9505895 THBS2 AU synonymous SNV NM_003247 exon20 c.C3075T p.A1025A 0.221246 0.1518 0.217131 0.2050 0.1509 Uncertain 6_169622638_C->A 6 169622638 169622638 C A snp 3141.77 1/1 99 102 0 102 1.0 intronic rs59244158 THBS2 AU NM_003247 exon4 c.4647+75C>A 0.265775 0.2361 Uncertain 6_169622734_G->A 6 169622734 169622734 G A snp 56.74 1/1 6 2 0 2 1.0 intronic rs7341189 THBS2 AU NM_003247 exon4 c.4647+171G>A 0.605631 0.4653 Uncertain 6_169626195_C->T 6 169626195 169626195 C T snp 185.9 1/1 15 6 0 6 1.0 intronic rs73238295 THBS2 AU NM_003247 exon7 c.8358-79C>T 0.242412 0.2629 Uncertain 6_169626244_T->C 6 169626244 169626244 T C snp 551.77 0/1 99 38 19 19 0.5 intronic rs7454644 THBS2 AU NM_003247 exon7 c.8358-30T>C 0.176717 0.1071 0.094956 0.1008 0.1130 Uncertain 6_169626481_G->A 6 169626481 169626481 G A snp 776.77 0/1 99 61 31 30 0.49 intronic rs531421274 THBS2 AU NM_003247 exon7 c.8477+88G>A 0.00279553 0.0139 Uncertain 6_169628170_A->- 6 169628170 169628170 A - indel 85.86 0/1 2 7 1 6 0.86 intronic rs11284439 THBS2 AU NM_003247 exon8 c.10300-46delA 0.2255 0.3124 Uncertain 6_169629783_G->A 6 169629783 169629783 G A snp 4069.77 1/1 99 154 0 154 1.0 intronic rs6422747 THBS2 AU NM_003247 exon9 c.11858+9G>A 0.701877 0.6131 0.689912 0.6122 0.5873 Uncertain 6_169629861_G->C 6 169629861 169629861 G C snp 2426.77 1/1 99 89 0 89 1.0 intronic rs9505891 THBS2 AU NM_003247 exon9 c.11858+87G>C 0.313099 0.37 Uncertain 6_169629910_G->C 6 169629910 169629910 G C snp 1506.77 1/1 99 45 0 45 1.0 intronic rs6422748 THBS2 AU NM_003247 exon9 c.11858+136G>C 0.676518 0.6131 Uncertain 6_169632219_G->A 6 169632219 169632219 G A snp 2434.77 0/1 99 250 152 98 0.39 exonic rs35935937 THBS2 AU synonymous SNV NM_003247 exon14 c.C2007T p.G669G 0.191693 0.2679 0.144933 0.1814 0.2614 Uncertain 6_169632608_C->G 6 169632608 169632608 C G snp 371.77 0/1 99 34 21 13 0.38 intronic rs57999146 THBS2 AU NM_003247 exon11 c.14842-150C>G 0.15595 0.1895 Uncertain 6_169632651_C->A 6 169632651 169632651 C A snp 688.77 0/1 99 66 37 29 0.44 intronic rs11755960 THBS2 AU NM_003247 exon11 c.14842-107C>A 0.166334 0.1885 Uncertain 6_169634809_C->T 6 169634809 169634809 C T snp 2702.77 0/1 99 249 129 120 0.48 intronic rs9393156 THBS2 AU NM_003247 exon13 c.16912-19C>T 0.355032 0.4772 0.306243 0.3674 0.5040 Uncertain 6_169635010_G->A 6 169635010 169635010 G A snp 247.77 0/1 99 35 24 11 0.31 intronic rs9406328 THBS2 AU NM_003247 exon13 c.17086+8G>A 0.355631 0.4772 0.300984 0.3684 0.5004 ID=CS082000;DIS=Lumbar-disc herniation, association with;TAG=DP;PUB=18455130 DP Uncertain 6_169637456_G->A 6 169637456 169637456 G A snp 3334.77 1/1 99 119 0 119 1.0 intronic rs9283850 THBS2 AU NM_003247 exon14 c.19525+15G>A 0.672724 0.8998 0.583897 0.5644 0.8993 Uncertain 6_169637519_C->T 6 169637519 169637519 C T snp 1280.77 1/1 93 37 0 37 1.0 intronic rs9283851 THBS2 AU NM_003247 exon14 c.19525+78C>T 0.689297 0.9008 Uncertain 6_169637763_G->C 6 169637763 169637763 G C snp 2050.77 0/1 99 195 109 86 0.44 exonic rs9766671 THBS2 AU synonymous SNV NM_003247 exon9 c.C1257G p.S419S 0.253594 0.2679 0.205290 0.2231 0.2517 Uncertain 6_169637911_G->A 6 169637911 169637911 G A snp 2974.77 1/1 99 105 0 105 1.0 intronic rs9766678 THBS2 AU NM_003247 exon15 c.19974+21G>A 0.688898 0.9008 0.602262 0.6078 0.8999 Uncertain 6_169639901_C->T 6 169639901 169639901 C T snp 1292.77 0/1 99 90 37 53 0.59 intronic rs9379336 THBS2 AU NM_003247 exon16 c.21874+111C>T 0.290935 0.4365 Uncertain 6_169640529_C->T 6 169640529 169640529 C T snp 715.77 0/1 99 45 19 26 0.58 intronic rs6906765 THBS2 AU NM_003247 exon17 c.22630-17C>T 0.198283 0.2659 0.146010 0.1766 0.2501 Uncertain 6_169642039_T->C 6 169642039 169642039 T C snp 1254.77 0/1 99 147 89 58 0.39 exonic THBS2 AU nonsynonymous SNV NM_003247 exon6 c.A709G p.I237V 0.41 T 0.868 N -0.879 T 0.002 T 0.005 T Pathogenic 6_169982927_T->A 6 169982927 169982927 T A snp 1846.77 1/1 99 69 0 69 1.0 splicing rs6941625 WDR27 AU NM_001202550 exon2 c.125253-4T>A 0.572484 0.8393 0.356875 0.4361 0.8617 Pathogenic 6_170002241_C->T 6 170002241 170002241 C T snp 1865.77 1/1 96 73 1 72 0.99 intronic rs9383503 WDR27 AU NM_001202550 exon3 c.144636-73C>T 0.199481 0.5615 Uncertain 6_170033086_G->A 6 170033086 170033086 G A snp 2057.77 1/1 99 81 1 80 0.99 exonic rs9396946 WDR27 AU nonsynonymous SNV NM_001202550 exon18 c.C1799T p.A600V 0.214257 0.5923 0.058833 0.1358 0.6322 0.65 T 0.000 P -1.028 T 0.231 T 0.04 T Pathogenic 6_170034794_A->G 6 170034794 170034794 A G snp 56.74 1/1 6 2 0 2 1.0 intronic rs9371157 WDR27 AU NM_001202550 exon6 c.176943+173A>G 0.195288 0.5962 Uncertain 6_170043646_A->G 6 170043646 170043646 A G snp 2735.77 1/1 99 83 0 83 1.0 intronic rs9295020 WDR27 AU NM_001202550 exon9 c.186114-146A>G 0.702875 0.9494 Uncertain 6_170049421_T->G 6 170049421 170049421 T G snp 1218.77 1/1 90 40 0 40 1.0 intronic rs4145868 WDR27 AU NM_001202550 exon11 c.191693+50T>G 0.697085 0.9812 0.462853 0.5043 0.9838 Uncertain 6_170058205_C->T 6 170058205 170058205 C T snp 2287.77 1/1 99 69 0 69 1.0 intronic rs3823463 WDR27 AU NM_001202550 exon13 c.200693-166C>T 0.19988 0.5982 Uncertain 6_170059627_G->A 6 170059627 170059627 G A snp 6221.77 1/1 99 228 2 226 0.99 intronic rs3823464 WDR27 AU NM_001202550 exon15 c.201936+13G>A 0.331669 0.6448 0.193257 0.2881 0.6794 Uncertain 6_170062600_G->A 6 170062600 170062600 G A snp 1290.77 0/1 99 103 49 54 0.52 intronic rs117500430 WDR27 AU NM_001202550 exon17 c.204842+80G>A 0.00938498 0.0456 Uncertain 6_170065742_G->A 6 170065742 170065742 G A snp 2865.77 1/1 99 106 0 106 1.0 intronic rs3800545 WDR27 AU NM_001202550 exon19 c.207974+90G>A 0.197883 0.5972 Uncertain 6_170067022_C->G 6 170067022 170067022 C G snp 377.77 1/1 30 10 0 10 1.0 intronic rs3800546 WDR27 AU NM_182552 exon21 c.209545-209C>G 0.5627 0.9365 Uncertain 6_170068180_A->G 6 170068180 170068180 A G snp 3377.77 1/1 99 128 0 128 1.0 exonic rs3823465 WDR27 AU synonymous SNV NM_182552 exon5 c.T558C p.V186V 0.318291 0.7093 0.151693 0.2322 0.7374 Uncertain 6_170070723_A->G 6 170070723 170070723 A G snp 5262.77 1/1 99 195 1 194 0.99 exonic rs4236176 WDR27 AU nonsynonymous SNV NM_182552 exon4 c.T398C p.L133P 0.53734 0.9365 0.315535 0.3950 0.9533 1 T 0.000 P -0.965 T 0.0 T 0.0 T Pathogenic 6_170102267_A->G 6 170102267 170102267 A G snp 2755.77 1/1 99 101 0 101 1.0 UTR5 rs4716383 C6orf120 AU 0.667332 0.9534 0.5304 0.9675 Uncertain 6_170102504_T->C 6 170102504 170102504 T C snp 176.9 1/1 15 5 0 5 1.0 UTR5 rs72571025 C6orf120 AU 0.195288 0.5982 0.2493 0.7105 Uncertain 6_170118085_C->T 6 170118085 170118085 C T snp 174.9 1/1 15 6 0 6 1.0 intronic rs7760142 PHF10 AU NM_018288 exon9 c.13904+83C>T 1 1 Uncertain 6_170140184_T->C 6 170140184 170140184 T C snp 1361.77 1/1 99 40 0 40 1.0 downstream rs9383520 TCTE3 AU 0.292532 0.6419 Uncertain 6_170159023_G->A 6 170159023 170159023 G A snp 3782.77 1/1 99 126 0 126 1.0 intronic rs6459660 ERMARD AD NM_018341 exon6 c.7310-40G>A 0.747204 0.9821 0.558435 0.5521 0.9935 Uncertain 6_170173529_G->C 6 170173529 170173529 G C snp 1093.77 0/1 99 102 56 46 0.45 intronic ERMARD AD NM_018341 exon13 c.21745+31G>C Uncertain 6_170190200_G->A 6 170190200 170190200 G A snp 2882.77 1/1 99 103 1 102 0.99 ncRNA_exonic rs3807067 LINC00242 AU 0.749601 0.9802 0.549934 0.5776 0.9862 Uncertain 6_170190659_G->T 6 170190659 170190659 G T snp 7018.77 1/1 99 247 2 245 0.99 ncRNA_exonic rs3800550 LINC00242 AU 0.446086 0.8423 0.2778 0.8232 Uncertain 6_170592293_C->G 6 170592293 170592293 C G snp 1417.77 0/1 99 116 63 53 0.46 intronic rs2295205 DLL1 AU NM_005618 exon3 c.357-25C>G 0.179113 0.1349 0.223528 0.2424 0.1434 Uncertain 6_170592945_C->T 6 170592945 170592945 C T snp 4807.77 1/1 99 188 0 188 1.0 exonic rs3734776 DLL1 AU synonymous SNV NM_005618 exon9 c.G1422A p.T474T 0.177117 0.5685 0.023949 0.1114 0.6131 Uncertain 6_170594819_T->C 6 170594819 170594819 T C snp 3737.77 1/1 99 133 0 133 1.0 intronic rs2255020 DLL1 AU NM_005618 exon6 c.2826+32T>C 0.978435 1 0.964017 0.9782 0.9999 Uncertain 6_170595430_G->C 6 170595430 170595430 G C snp 2621.77 1/1 99 89 1 88 0.99 intronic rs2747757 DLL1 AU NM_005618 exon7 c.3425+44G>C 0.886981 0.9802 0.879210 0.9431 0.9767 Uncertain 6_170597305_C->T 6 170597305 170597305 C T snp 4529.77 1/1 99 151 0 151 1.0 intronic rs3818115 DLL1 AU NM_005618 exon8 c.5365-21C>T 0.176318 0.5754 0.020913 0.0904 0.5853 Uncertain 6_170598227_T->G 6 170598227 170598227 T G snp 3008.77 1/1 99 115 0 115 1.0 intronic rs2747756 DLL1 AU NM_005618 exon9 c.5916+350T>G 0.973043 1 0.9682 1 Uncertain 6_170599385_C->T 6 170599385 170599385 C T snp 816.77 1/1 60 26 0 26 1.0 UTR5 rs3823301 DLL1 AU 0.176917 0.5774 Uncertain 6_170604336_C->A 6 170604336 170604336 C A snp 1869.77 1/1 99 60 0 60 1.0 intergenic rs78460990 DLL1 AU 0.186901 0.5754 Uncertain 6_170632064_G->T 6 170632064 170632064 G T snp 167.9 1/1 15 5 0 5 1.0 intronic rs2064532 FAM120B AU NM_032448 exon3 c.5688-102G>T 0.172524 0.5734 Uncertain 6_170639786_C->A 6 170639786 170639786 C A snp 5410.77 1/1 99 198 1 197 0.99 intronic rs74954734 FAM120B AU NM_032448 exon4 c.13160+148C>A 0.187899 0.5754 Uncertain 6_170713503_C->G 6 170713503 170713503 C G snp 827.77 1/1 63 24 0 24 1.0 intronic rs4710719 FAM120B AU NM_032448 exon10 c.87159-134C>G 0.183107 0.5734 Uncertain 6_170845354_A->G 6 170845354 170845354 A G snp 1259.77 1/1 93 40 0 40 1.0 intronic rs9348278 PSMB1 AU NM_002793 exon1 c.186+861A>G 0.574081 0.7877 0.5018 0.8 Uncertain 6_170858045_C->T 6 170858045 170858045 C T snp 1244.77 1/1 90 38 0 38 1.0 intronic rs2076319 PSMB1 AU NM_002793 exon5 c.13786-48C>T 0.634984 0.7877 0.583551 0.5406 0.7908 Uncertain 6_170862051_G->C 6 170862051 170862051 G C snp 716.77 1/1 54 20 0 20 1.0 intronic rs4710839 PSMB1 AU NM_002793 exon6 c.17910-166G>C 0.456669 0.7728 Uncertain 6_170862300_G->C 6 170862300 170862300 G C snp 4271.77 1/1 99 159 0 159 1.0 exonic rs12717 PSMB1 AU nonsynonymous SNV NM_002793 exon1 c.C31G p.P11A 0.45008 0.7728 0.358197 0.4251 0.7830 0.34 T 0.0 P -0.945 T 0.0 T 0.0 T Pathogenic 6_170871013_-->CAG 6 170871013 170871013 - CAG indel 2846.73 1/1 99 86 1 85 0.99 exonic rs113202486 TBP AD,AO nonframeshift insertion NM_003194 exon3 c.189_190insCAG p.Q63delinsQQ 0.724842 ID=COSM247745;OCCURENCE=1(urinary_tract),1(prostate) Uncertain 6_170871047_CAGCAGCAG->- 6 170871047 170871055 CAGCAGCAG - indel 4571.73 1/1 99 84 0 84 1.0 exonic rs752404282 TBP AD,AO nonframeshift deletion NM_003194 exon3 c.223_231del p.75_77del 0.0001 0 Uncertain 6_170873571_G->C 6 170873571 170873571 G C snp 250.77 0/1 99 20 11 9 0.45 intronic rs11962869 TBP AD,AO NM_001172085 exon3 c.2748-61G>C 0.0676917 0.2748 Uncertain 6_170878793_T->C 6 170878793 170878793 T C snp 3697.77 1/1 99 140 0 140 1.0 exonic rs1042327 TBP AD,AO synonymous SNV NM_003194 exon6 c.T771C p.N257N 0.614617 0.7877 0.553591 0.5319 0.7946 1.0 P -0.946 T CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000118601.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Likely benign 6_170886531_T->C 6 170886531 170886531 T C snp 888.77 1/1 66 28 0 28 1.0 UTR3 rs8770 PDCD2 AU 0.602436 0.7907 Uncertain 6_170887693_G->C 6 170887693 170887693 G C snp 1281.77 1/1 93 47 0 47 1.0 intronic rs3173219 PDCD2 AU NM_001199462 exon2 c.1298-251G>C 0.430711 0.7738 0.3922 0.7836 Uncertain 6_170888208_A->G 6 170888208 170888208 A G snp 481.77 1/1 36 14 0 14 1.0 intronic rs960744 PDCD2 AU NM_001199462 exon2 c.1412+150A>G 0.642372 0.7877 Uncertain 6_170891493_G->T 6 170891493 170891493 G T snp 175.9 1/1 15 5 0 5 1.0 UTR3 rs2066954 PDCD2 AU 0.450479 0.7758 Uncertain 6_170892100_T->C 6 170892100 170892100 T C snp 267.8 1/1 21 9 0 9 1.0 UTR3 rs9295417 PDCD2 AU 0.602236 0.7907 0.539905 0.5331 0.7956 Uncertain 6_170892483_-->T 6 170892483 170892483 - T indel 2001.73 1/1 99 55 0 55 1.0 intronic rs17860837 PDCD2 AU NM_001199464 exon3 c.1247-109insT 0.44349 0.7758 Uncertain 6_170892848_A->G 6 170892848 170892848 A G snp 1381.77 1/1 99 47 0 47 1.0 intronic rs4140615 PDCD2 AU NM_001199464 exon3 c.1490+13A>G 0.612819 0.7907 0.552061 0.5343 0.7953 Uncertain 6_170892919_-->ACTC 6 170892919 170892919 - ACTC indel 627.74 1/1 30 11 0 11 1.0 intronic rs113114915 PDCD2 AU NM_001199464 exon3 c.1490+84insACTC 0.611022 0.7907 Uncertain 6_170893364_C->T 6 170893364 170893364 C T snp 681.77 1/1 51 26 0 26 1.0 intronic rs4140616 PDCD2 AU NM_001199464 exon4 c.2041-22C>T 0.470647 0.7708 0.340144 0.4462 0.7836 Uncertain 7_286534_A->G 7 286534 286534 A G snp 109.77 0/1 99 15 10 5 0.33 intronic rs146778412 FAM20C AR NM_020223 exon4 c.93274+61A>G 0.559305 0.5317 Uncertain 7_288501_G->C 7 288501 288501 G C snp 195.8 0/1 21 8 2 6 0.75 intronic rs145542456 FAM20C AR NM_020223 exon5 c.95197+105G>C 0.145567 0.2331 Uncertain 7_295683_-->G 7 295683 295683 - G indel 326.73 0/1 99 16 5 11 0.69 intronic rs36173688 FAM20C AR NM_020223 exon6 c.102615-131insG 0.602636 0.5456 Uncertain 7_296557_T->C 7 296557 296557 T C snp 417.77 0/1 99 48 32 16 0.33 intronic rs36164325 FAM20C AR NM_020223 exon7 c.103420-62T>C 0.588858 0.501 Uncertain 7_296739_G->A 7 296739 296739 G A snp 2111.77 0/1 99 177 85 92 0.52 intronic rs36156504 FAM20C AR NM_020223 exon7 c.103530+10G>A 0.252196 0.2619 0.304643 0.3214 0.2923 Uncertain 7_298398_G->C 7 298398 298398 G C snp 46.77 0/1 33 3 1 2 0.67 intronic FAM20C AR NM_020223 exon9 c.105412-213G>C Uncertain 7_298412_G->A 7 298412 298412 G A snp 74.77 0/1 99 8 5 3 0.38 intronic FAM20C AR NM_020223 exon9 c.105412-199G>A Uncertain 7_298415_T->C 7 298415 298415 T C snp 71.77 0/1 99 9 6 3 0.33 intronic FAM20C AR NM_020223 exon9 c.105412-196T>C Uncertain 7_298416_G->A 7 298416 298416 G A snp 71.77 0/1 99 9 6 3 0.33 intronic FAM20C AR NM_020223 exon9 c.105412-195G>A Uncertain 7_298418_G->T 7 298418 298418 G T snp 71.77 0/1 99 9 6 3 0.33 intronic FAM20C AR NM_020223 exon9 c.105412-193G>T Uncertain 7_298419_A->G 7 298419 298419 A G snp 71.77 0/1 99 9 6 3 0.33 intronic rs138952642 FAM20C AR NM_020223 exon9 c.105412-192A>G Uncertain 7_298807_T->C 7 298807 298807 T C snp 96.28 1/1 9 3 0 3 1.0 intronic rs36181319 FAM20C AR NM_020223 exon9 c.105472+136T>C 0.551118 0.499 Uncertain 7_299642_G->A 7 299642 299642 G A snp 678.77 0/1 99 68 38 30 0.44 intronic rs36156024 FAM20C AR NM_020223 exon10 c.106497-54G>A 0.240216 0.3264 Uncertain 7_299850_G->T 7 299850 299850 G T snp 1177.77 0/1 99 64 21 43 0.67 exonic rs36170987 FAM20C AR synonymous SNV NM_020223 exon10 c.G1659T p.V553V 0.53115 0.498 0.518178 0.4735 0.4787 Uncertain 7_299881_A->G 7 299881 299881 A G snp 957.77 0/1 99 60 20 40 0.67 exonic rs36139924 FAM20C AR nonsynonymous SNV NM_020223 exon10 c.A1690G p.N564D 0.525359 0.502 0.506789 0.4725 0.4743 0.56 T 0.000 P -0.909 T 0.0 T 0.001 T Pathogenic 7_299976_G->A 7 299976 299976 G A snp 498.77 0/1 99 35 14 21 0.6 UTR3 rs36173075 FAM20C AR 0.220647 0.2887 0.2711 0.2988 Uncertain 7_299987_C->G 7 299987 299987 C G snp 375.77 0/1 99 31 13 18 0.58 UTR3 rs36138803 FAM20C AR 0.59405 0.501 0.5701 0.4062 Uncertain 7_330822_A->C 7 330822 330822 A C snp 5800.77 1/1 99 189 0 189 1.0 intronic rs36180337 WI2-2373I1.2 AU NM_001195127 exon2 c.652+35A>C 0.674121 0.3194 0.7617 0.4176 Uncertain 7_330882_T->G 7 330882 330882 T G snp 1474.77 1/1 99 41 0 41 1.0 intronic rs4077171 WI2-2373I1.2 AU NM_001195127 exon2 c.652+95T>G 0.676518 0.3175 Uncertain 7_330884_A->G 7 330884 330884 A G snp 1437.77 1/1 99 39 0 39 1.0 intronic rs4077172 WI2-2373I1.2 AU NM_001195127 exon2 c.652+97A>G 0.676518 0.3175 Uncertain 7_331086_G->A 7 331086 331086 G A snp 5375.77 1/1 99 199 0 199 1.0 exonic rs36129019 WI2-2373I1.2 AU nonsynonymous SNV NM_001195127 exon3 c.G334A p.G112S 0.273562 0.2054 0.4279 0.1641 Pathogenic 7_331427_C->A 7 331427 331427 C A snp 3982.77 1/1 99 141 1 140 0.99 exonic rs141537626 WI2-2373I1.2 AU nonsynonymous SNV NM_001195127 exon3 c.C675A p.N225K 0.43151 0.255 0.6667 . Pathogenic 7_540741_G->A 7 540741 540741 G A snp 7502.77 1/1 99 250 0 250 1.0 intronic rs1800814 PDGFA AU NM_002607 exon3 c.672-11G>A 0.48143 0.495 0.502000 0.4819 0.4687 Uncertain 7_541032_C->G 7 541032 541032 C G snp 596.77 1/1 45 15 0 15 1.0 intronic rs28376477 PDGFA AU NM_002607 exon3 c.799+153C>G 0.48722 0.5069 Uncertain 7_550399_A->G 7 550399 550399 A G snp 104.78 0/1 27 5 1 4 0.8 intronic rs192632660 PDGFA AU NM_002607 exon4 c.10365-46A>G Uncertain 7_550409_G->A 7 550409 550409 G A snp 284.77 0/1 84 12 3 9 0.75 intronic rs183980841 PDGFA AU NM_002607 exon4 c.10365-36G>A 0.0714 0 Uncertain 7_550737_G->C 7 550737 550737 G C snp 433.77 0/1 99 26 12 14 0.54 intronic rs62433334 PDGFA AU NM_002607 exon4 c.10553+104G>C 0.510383 0.499 Uncertain 7_550791_T->C 7 550791 550791 T C snp 84.28 1/1 9 3 0 3 1.0 intronic rs13309625 PDGFA AU NM_002607 exon4 c.10553+158T>C 0.809505 0.8512 Uncertain 7_551946_T->C 7 551946 551946 T C snp 883.77 1/1 66 28 0 28 1.0 intronic rs9692018 PDGFA AU NM_002607 exon5 c.11907-41T>C 0.819289 0.8552 0.877505 0.9002 0.7990 Uncertain 7_552046_A->G 7 552046 552046 A G snp 1703.77 0/1 99 122 44 78 0.64 exonic rs1129401 PDGFA AU synonymous SNV NM_002607 exon3 c.T207C p.H69H 0.248403 0.3234 0.227420 0.2597 0.2949 0.0 P -1.084 T Likely benign 7_589918_G->T 7 589918 589918 G T snp 61.77 0/1 90 10 7 3 0.3 UTR3 rs529653359 PRKAR1B AU 0.000199681 0.001 Uncertain 7_591125_C->G 7 591125 591125 C G snp 352.77 0/1 99 46 28 18 0.39 intronic rs71518309 PRKAR1B AU NM_001164758 exon2 c.1041+18C>G 0.582867 0.5962 0.587051 0.5013 0.6366 Uncertain 7_624221_T->G 7 624221 624221 T G snp 4915.77 1/1 99 185 0 185 1.0 intronic rs9330368 PRKAR1B AU NM_001164758 exon4 c.34139+16T>G 0.674950 0.6857 0.8387 Uncertain 7_624344_C->T 7 624344 624344 C T snp 2782.77 1/1 99 95 0 95 1.0 intronic rs9330367 PRKAR1B AU NM_001164758 exon4 c.34139+139C>T 0.66873 0.8343 Uncertain 7_624366_G->A 7 624366 624366 G A snp 1946.77 1/1 99 63 0 63 1.0 intronic rs13221342 PRKAR1B AU NM_001164758 exon4 c.34139+161G>A 0.632388 0.8313 Uncertain 7_624401_C->T 7 624401 624401 C T snp 904.77 1/1 69 26 0 26 1.0 intronic rs9330366 PRKAR1B AU NM_001164758 exon4 c.34139+196C>T 0.769169 0.8413 Uncertain 7_624424_C->T 7 624424 624424 C T snp 258.8 1/1 21 8 0 8 1.0 intronic rs9771330 PRKAR1B AU NM_001164758 exon4 c.34139+219C>T 0.641973 0.8313 Uncertain 7_717176_A->G 7 717176 717176 A G snp 473.77 1/1 36 12 0 12 1.0 intronic rs35489720 PRKAR1B AU NM_001164758 exon8 c.126891+219A>G 0.357228 0.2788 Uncertain 7_720119_C->G 7 720119 720119 C G snp 116.77 0/1 99 8 4 4 0.5 intronic rs79037648 PRKAR1B AU NM_001164758 exon9 c.130126-73C>G 0.159145 0.1776 Uncertain 7_766168_A->C 7 766168 766168 A C snp 130.03 1/1 12 4 0 4 1.0 upstream rs62432205 DNAAF5 AR 0.969848 0.999 Uncertain 7_766214_-->ACGAT 7 766214 766214 - ACGAT indel 1253.73 1/1 48 16 0 16 1.0 upstream rs150662951 DNAAF5 AR 0.390974 0.373 Uncertain 7_766220_A->G 7 766220 766220 A G snp 614.77 1/1 45 24 0 24 1.0 upstream rs79984239 DNAAF5 AR 0.40016 0.373 Uncertain 7_772174_G->A 7 772174 772174 G A snp 2769.77 1/1 99 104 0 104 1.0 intronic rs4724987 DNAAF5 AR NM_017802 exon2 c.3127+2690G>A 0.83746 0.7381 0.8793 0.7391 Uncertain 7_780687_T->C 7 780687 780687 T C snp 2525.77 1/1 99 80 0 80 1.0 intronic rs62432212 DNAAF5 AR NM_017802 exon3 c.14223+107T>C 0.995607 1 Uncertain 7_780980_T->G 7 780980 780980 T G snp 1227.77 1/1 87 50 0 50 1.0 splicing rs6943337 DNAAF5 AR NM_017802 exon4 c.14626-3T>G 0.758986 0.6181 0.791833 0.8385 0.7108 Pathogenic 7_794092_C->T 7 794092 794092 C T snp 890.77 1/1 66 24 0 24 1.0 intronic rs6951032 DNAAF5 AR NM_017802 exon5 c.27868-133C>T 0.1873 0.2599 Uncertain 7_794471_A->G 7 794471 794471 A G snp 1266.77 1/1 90 44 0 44 1.0 intronic rs34761279 DNAAF5 AR NM_017802 exon5 c.28101+13A>G 0.826677 0.7242 0.838722 0.8333 0.7695 Uncertain 7_794576_C->T 7 794576 794576 C T snp 182.9 1/1 15 5 0 5 1.0 intronic rs62432239 DNAAF5 AR NM_017802 exon5 c.28101+118C>T 0.764577 0.6181 Uncertain 7_801634_-->TGAGCCCCAGGCCTCAAACATGTC 7 801634 801634 - TGAGCCCCAGGCCTCAAACATGTC indel 10724.7 1/1 99 50 0 50 1.0 intronic rs142752861 DNAAF5 AR NM_017802 exon7 c.35176+101insTGAGCCCCAGGCCTCAAACATGTC 0.824681 0.7242 Uncertain 7_813618_T->C 7 813618 813618 T C snp 7413.77 1/1 99 250 0 250 1.0 intronic rs4719279 DNAAF5 AR NM_017802 exon10 c.47327-66T>C 0.746605 0.62 Uncertain 7_813650_G->A 7 813650 813650 G A snp 7807.77 1/1 99 249 1 248 1.0 intronic rs62432869 DNAAF5 AR NM_017802 exon10 c.47327-34G>A 0.636581 0.62 0.595571 0.6128 0.6333 Uncertain 7_813867_C->G 7 813867 813867 C G snp 615.77 0/1 99 35 17 18 0.51 intronic rs6973746 DNAAF5 AR NM_017802 exon10 c.47478+32C>G 0.651757 0.5198 0.716383 0.6680 0.5029 Uncertain 7_814612_G->A 7 814612 814612 G A snp 596.77 1/1 45 19 0 19 1.0 intronic rs34943122 DNAAF5 AR NM_017802 exon11 c.48285-30G>A 0.665136 0.619 0.623020 0.6200 0.6338 Uncertain 7_814788_G->A 7 814788 814788 G A snp 2587.77 1/1 99 88 0 88 1.0 exonic rs3922641 DNAAF5 AR nonsynonymous SNV NM_017802 exon11 c.G2228A p.R743K 0.66873 0.62 0.626941 0.6211 0.6314 1 T 0.000 P -0.929 T 0.0 T 0.0 T Pathogenic 7_819477_T->C 7 819477 819477 T C snp 267.8 1/1 21 8 0 8 1.0 intronic rs35728023 DNAAF5 AR NM_017802 exon12 c.53232-112T>C 0.731829 0.7272 Uncertain 7_821798_C->T 7 821798 821798 C T snp 3340.77 1/1 99 121 2 119 0.98 intronic rs4374882 DNAAF5 AR NM_017802 exon12 c.53424+2017C>T 0.750799 0.621 Uncertain 7_821807_C->G 7 821807 821807 C G snp 3459.77 1/1 99 132 5 127 0.96 intronic rs6965219 DNAAF5 AR NM_017802 exon12 c.53424+2026C>G 0.234225 0.2629 Uncertain 7_821891_G->A 7 821891 821891 G A snp 4220.77 1/1 99 204 16 188 0.92 intronic rs12673274 DNAAF5 AR NM_017802 exon12 c.53424+2110G>A Uncertain 7_822050_C->G 7 822050 822050 C G snp 494.77 1/1 39 14 0 14 1.0 intronic rs62432895 DNAAF5 AR NM_017802 exon12 c.53424+2269C>G 0.769968 0.621 Uncertain 7_822501_C->T 7 822501 822501 C T snp 6442.77 1/1 99 250 10 240 0.96 intronic rs4719313 DNAAF5 AR NM_017802 exon13 c.58796-2652C>T 0.188698 0.2688 Uncertain 7_822523_A->G 7 822523 822523 A G snp 7616.77 1/1 99 250 0 250 1.0 intronic rs4719314 DNAAF5 AR NM_017802 exon13 c.58796-2630A>G 0.787141 0.621 Uncertain 7_825114_T->C 7 825114 825114 T C snp 5520.77 1/1 99 198 0 198 1.0 intronic rs67721251 DNAAF5 AR NM_017802 exon13 c.58796-39T>C 0.741014 0.619 0.784177 0.7795 0.6335 Uncertain 7_855720_C->G 7 855720 855720 C G snp 1125.77 0/1 99 60 17 43 0.72 intergenic rs76222665 DNAAF5 AR 0.141174 0.1379 Uncertain 7_856320_C->T 7 856320 856320 C T snp 320.77 0/1 99 24 8 16 0.67 intergenic rs6959154 DNAAF5 AR 0.404553 0.3403 0.5338 0.6875 Uncertain 7_878432_T->C 7 878432 878432 T C snp 3267.77 0/1 99 250 122 128 0.51 splicing rs77466627 SUN1 AU NM_001171946 exon3 c.6273-2T>C 0.00998403 0.0476 0.000219 0.0027 0.0544 Pathogenic 7_881668_C->T 7 881668 881668 C T snp 3006.77 0/1 99 247 117 130 0.53 exonic rs6461378 SUN1 AU nonsynonymous SNV NM_001130965 exon3 c.C352T p.H118Y 0.532947 0.6399 0.475461 0.4667 0.6435 0.38 T 1.0 P -0.947 T 0.945 T 0.558 D Pathogenic 7_882895_C->G 7 882895 882895 C G snp 241.77 0/1 99 20 7 13 0.65 intronic rs6970511 SUN1 AU NM_001171946 exon5 c.10708+26C>G 0.495208 0.6508 0.442523 0.4564 0.6516 Uncertain 7_888290_A->T 7 888290 888290 A T snp 146.03 1/1 12 6 0 6 1.0 intronic rs75133066 SUN1 AU NM_001130965 exon6 c.18859-2730A>T 0.172724 0.1369 0.143355 0.1863 0.1673 Uncertain 7_889169_A->G 7 889169 889169 A G snp 2241.77 0/1 99 228 126 102 0.45 intronic rs74742245 SUN1 AU NM_001130965 exon6 c.18859-1851A>G 0.172125 0.1369 0.143181 0.1848 0.1662 0.13 T 0.0 P -0.971 T 0.01 T 0.01 T Uncertain 7_889358_T->C 7 889358 889358 T C snp 568.77 0/1 99 25 8 17 0.68 intronic rs12669325 SUN1 AU NM_001130965 exon6 c.18859-1662T>C 0.118211 0.1091 0.085106 0.1287 0.1384 Uncertain 7_890978_T->C 7 890978 890978 T C snp 228.77 0/1 99 15 7 8 0.53 intronic rs7792674 SUN1 AU NM_001130965 exon6 c.18859-42T>C 0.49361 0.6478 0.435677 0.4720 0.6562 Uncertain 7_891184_-->GAT 7 891184 891184 - GAT indel 5762.73 1/1 99 103 0 103 1.0 intronic rs10628483 SUN1 AU NM_001130965 exon6 c.18958+65insGAT 0.778554 0.7857 Uncertain 7_892902_C->T 7 892902 892902 C T snp 174.77 0/1 99 12 6 6 0.5 intronic rs4076072 SUN1 AU NM_001171944 exon8 c.20884-143C>T 0.165535 0.1329 Uncertain 7_893297_G->C 7 893297 893297 G C snp 116.77 0/1 69 9 3 6 0.67 intronic rs4605959 SUN1 AU NM_001171944 exon8 c.21094+42G>C 0.489018 0.6458 0.421384 0.4678 0.6598 Uncertain 7_896243_G->A 7 896243 896243 G A snp 113.77 0/1 99 7 3 4 0.57 intronic rs7801760 SUN1 AU NM_001171944 exon10 c.23877+205G>A 0.173922 0.1369 Uncertain 7_897492_A->G 7 897492 897492 A G snp 1958.77 0/1 99 193 104 89 0.46 exonic rs10950789 SUN1 AU synonymous SNV NM_001130965 exon13 c.A1422G p.T474T 0.436901 0.4821 0.377633 0.3880 0.5006 0.0 P -0.907 T Likely benign 7_897496_G->A 7 897496 897496 G A snp 1868.77 0/1 99 187 100 87 0.47 exonic rs59910530 SUN1 AU nonsynonymous SNV NM_001130965 exon13 c.G1426A p.E476K 0.168331 0.1359 0.136342 0.1817 0.1648 0.91 T 0.0 P -1.022 T 0.021 T 0.004 T Pathogenic 7_899587_A->G 7 899587 899587 A G snp 86.28 1/1 9 3 0 3 1.0 intronic rs11769295 SUN1 AU NM_001171944 exon12 c.27603-177A>G 0.665136 0.7837 Uncertain 7_899710_A->C 7 899710 899710 A C snp 1139.77 0/1 99 99 54 45 0.45 intronic rs12700166 SUN1 AU NM_001171944 exon12 c.27603-54A>C 0.50639 0.6468 Uncertain 7_900905_C->G 7 900905 900905 C G snp 127.78 0/1 27 6 1 5 0.83 intronic rs76105981 SUN1 AU NM_001171944 exon13 c.28855-111C>G 0.145767 0.1379 Uncertain 7_905418_T->C 7 905418 905418 T C snp 410.77 0/1 99 19 7 12 0.63 intronic rs4721949 SUN1 AU NM_001171944 exon14 c.33427-170T>C 0.17512 0.1379 Uncertain 7_905786_A->G 7 905786 905786 A G snp 391.22 0/1 4 12 1 11 0.92 intronic rs4721952 SUN1 AU NM_001171944 exon14 c.33543+82A>G 0.669728 0.7837 Uncertain 7_912720_T->A 7 912720 912720 T A snp 507.77 0/1 99 48 28 20 0.42 intronic rs59436529 SUN1 AU NM_001171944 exon17 c.40690-131T>A 0.142971 0.1379 Uncertain 7_912755_C->T 7 912755 912755 C T snp 2793.77 1/1 99 92 0 92 1.0 intronic rs4722034 SUN1 AU NM_001171944 exon17 c.40690-96C>T 0.774361 0.7857 Uncertain 7_916484_C->T 7 916484 916484 C T snp 499.77 0/1 99 51 27 24 0.47 intronic rs565437926 GET4 AU NM_015949 exon1 c.155+47C>T 0.00159744 0.0079 0 0 Uncertain 7_917828_G->A 7 917828 917828 G A snp 710.77 0/1 99 67 39 28 0.42 intronic rs58994882 GET4 AU NM_015949 exon1 c.155+1391G>A 0.144369 0.1379 Uncertain 7_925866_C->T 7 925866 925866 C T snp 740.77 0/1 99 60 31 29 0.48 intronic rs77660844 GET4 AU NM_015949 exon2 c.9489+95C>T 0.152356 0.1369 Uncertain 7_925949_A->G 7 925949 925949 A G snp 200.77 0/1 58 8 2 6 0.75 intronic rs10226357 GET4 AU NM_015949 exon2 c.9489+178A>G 0.571486 0.6865 Uncertain 7_926077_G->A 7 926077 926077 G A snp 320.77 0/1 99 19 6 13 0.68 intronic rs10267796 GET4 AU NM_015949 exon3 c.9923-128G>A 0.529952 0.5546 Uncertain 7_926827_T->C 7 926827 926827 T C snp 2835.77 1/1 99 88 0 88 1.0 intronic rs4722203 GET4 AU NM_015949 exon4 c.10724-179T>C 1 1 1.0000 1 Uncertain 7_930689_C->T 7 930689 930689 C T snp 855.77 0/1 99 68 34 34 0.5 exonic rs13171 GET4 AU synonymous SNV NM_015949 exon5 c.C591T p.A197A 0.201078 0.2669 0.143934 0.2001 0.3125 Uncertain 7_933234_T->A 7 933234 933234 T A snp 38.77 0/1 67 6 4 2 0.33 intronic rs35157448 GET4 AU NM_015949 exon7 c.17094-142T>A 0.667332 0.6329 Uncertain 7_933239_G->A 7 933239 933239 G A snp 37.77 0/1 66 7 4 3 0.43 intronic rs570175174 GET4 AU NM_015949 exon7 c.17094-137G>A 0.000199681 Uncertain 7_933240_-->GGT 7 933240 933240 - GGT indel 367.77 1/1 21 7 0 7 1.0 intronic rs34784960 GET4 AU NM_015949 exon7 c.17094-136insGGT Uncertain 7_933369_T->C 7 933369 933369 T C snp 1006.77 0/1 99 86 41 45 0.52 intronic rs77318420 GET4 AU NM_015949 exon7 c.17094-7T>C 0.0728834 0.1607 0.039486 0.0354 0.1663 Uncertain 7_938925_G->C 7 938925 938925 G C snp 1980.77 0/1 99 132 65 67 0.51 intronic rs117135055 ADAP1 AU NM_001284309 exon2 c.341+27G>C 0.014377 0.0675 0.0067 0.0898 Uncertain 7_939536_G->A 7 939536 939536 G A snp 39.77 0/1 68 4 2 2 0.5 intronic rs559197012 ADAP1 AU NM_001284309 exon4 c.1181-202G>A 0.000599042 0.003 Uncertain 7_940181_C->T 7 940181 940181 C T snp 1539.77 1/1 99 57 0 57 1.0 exonic rs10256887 ADAP1 AU nonsynonymous SNV NM_001284311 exon5 c.G436A p.G146S 0.867013 0.8988 0.875944 0.8529 0.8698 1 T 0.000 P -0.990 T 0.0 T 0.0 T Pathogenic 7_940258_-->GGCAAAGGCA 7 940258 940258 - GGCAAAGGCA indel 4263.73 0/1 99 73 33 40 0.55 splicing rs113839920 ADAP1 AU NM_001284309 exon5 c.1696+5insGGCAAAGGCA 0.467252 0.4008 0.6045 0.4373 Pathogenic 7_940267_T->C 7 940267 940267 T C snp 775.77 0/1 99 69 33 36 0.52 intronic rs3824079 ADAP1 AU NM_001284309 exon5 c.1696+14T>C 0.667332 0.621 0.684138 0.6690 0.5858 Uncertain 7_940296_A->G 7 940296 940296 A G snp 571.77 0/1 99 52 28 24 0.46 intronic rs200779642 ADAP1 AU NM_001284309 exon5 c.1696+43A>G 0.00339457 0.0159 0.0014 0.0210 Uncertain 7_940298_C->G 7 940298 940298 C G snp 553.77 0/1 99 51 28 23 0.45 intronic rs13224354 ADAP1 AU NM_001284309 exon5 c.1696+45C>G 0.515575 0.3968 0.668404 0.6259 0.4712 Uncertain 7_940450_G->C 7 940450 940450 G C snp 125.78 0/1 27 5 1 4 0.8 intronic rs11765907 ADAP1 AU NM_001284309 exon5 c.1696+197G>C 0.463858 0.4038 Uncertain 7_940502_GAAGGGCC->- 7 940502 940509 GAAGGGCC - indel 940.73 0/1 99 17 7 10 0.59 intronic rs71020534 ADAP1 AU NM_001284309 exon5 c.1696+249_1696+256delGAAGGGCC Uncertain 7_940724_G->A 7 940724 940724 G A snp 803.77 0/1 99 62 28 34 0.55 intronic rs11765973 ADAP1 AU NM_001284309 exon5 c.1696+471G>A 0.44349 0.3978 Uncertain 7_943998_C->T 7 943998 943998 C T snp 981.77 1/1 72 32 0 32 1.0 intronic rs3824077 ADAP1 AU NM_001284309 exon6 c.5352+89C>T 0.772564 0.8304 Uncertain 7_944683_C->T 7 944683 944683 C T snp 2152.77 1/1 99 80 0 80 1.0 intronic rs1881121 ADAP1 AU NM_001284309 exon7 c.6139-13C>T 0.897364 1 0.852310 0.8541 0.9995 Uncertain 7_944834_C->T 7 944834 944834 C T snp 600.77 0/1 99 66 36 30 0.45 intronic rs202083247 ADAP1 AU NM_001284309 exon7 c.6252+25C>T 0.00139776 0.0069 0.000155 0.0005 0.0049 Uncertain 7_944874_G->A 7 944874 944874 G A snp 474.77 0/1 99 38 21 17 0.45 intronic rs10243781 ADAP1 AU NM_001284309 exon7 c.6252+65G>A 0.331669 0.4067 Uncertain 7_959692_G->A 7 959692 959692 G A snp 1055.77 0/1 99 94 49 45 0.48 splicing rs6962883 ADAP1 AU NM_001284309 exon8 c.21130+5G>A 0.115415 0.2788 0.063337 0.0664 0.3016 Pathogenic 7_960705_T->C 7 960705 960705 T C snp 950.77 1/1 72 26 0 26 1.0 intronic rs10250309 ADAP1 AU NM_001284311 exon9 c.21969+179T>C 0.853235 0.9663 Uncertain 7_966413_G->A 7 966413 966413 G A snp 156.77 0/1 99 8 3 5 0.63 intronic rs62430832 ADAP1 AU NM_001284309 exon9 c.27723+133G>A 0.337061 0.4097 Uncertain 7_966926_G->C 7 966926 966926 G C snp 273.77 0/1 99 16 6 10 0.63 intronic rs3824074 ADAP1 AU NM_001284310 exon10 c.28295+74G>C 0.340256 0.4077 Uncertain 7_1022728_T->C 7 1022728 1022728 T C snp 56.74 1/1 6 2 0 2 1.0 upstream rs12701220 CYP2W1 AU 0.181909 0.3026 Uncertain 7_1023995_-->G 7 1023995 1023995 - G indel 2153.73 1/1 99 68 1 67 0.99 intronic rs34743661 CYP2W1 AU NM_017781 exon2 c.1200-52insG 0.646366 0.6111 Uncertain 7_1024002_T->C 7 1024002 1024002 T C snp 1908.77 1/1 99 71 0 71 1.0 intronic rs3735689 CYP2W1 AU NM_017781 exon2 c.1200-45T>C 0.646366 0.6111 0.637909 0.5456 0.5691 Uncertain 7_1024581_T->C 7 1024581 1024581 T C snp 927.77 1/1 69 29 0 29 1.0 splicing rs3824081 CYP2W1 AU NM_017781 exon3 c.1738-4T>C 0.59984 0.6151 0.574576 0.5559 0.6300 Pathogenic 7_1028448_C->T 7 1028448 1028448 C T snp 1486.77 1/1 99 49 0 49 1.0 exonic rs3808348 CYP2W1 AU nonsynonymous SNV NM_017781 exon9 c.C1463T p.P488L 0.182508 0.3006 0.147211 0.2648 0.3887 0 D 0.001 P -1.091 T 0.042 T 0.049 T Pathogenic 7_1097449_G->A 7 1097449 1097449 G A snp 3496.77 0/1 99 244 93 151 0.62 exonic rs200158266 GPR146 AU nonsynonymous SNV NM_001303473 exon2 c.G298A p.E100K 0.00119808 0.006 0.0002 0.0028 0.21 T 1.000 D -0.465 T 0.999 D 0.867 D Pathogenic 7_1473931_C->T 7 1473931 1473931 C T snp 506.77 0/1 99 36 16 20 0.56 downstream rs10266549 MICALL2 AU 0.251198 0.0288 Uncertain 7_1473997_C->T 7 1473997 1473997 C T snp 1152.77 0/1 99 99 53 46 0.46 UTR3 rs66502635 MICALL2 AU 0.0964457 0.0278 0.0722 0.0185 Uncertain 7_1474342_A->T 7 1474342 1474342 A T snp 1709.77 0/1 99 150 78 72 0.48 intronic rs9986863 MICALL2 AU NM_182924 exon1 c.77+34A>T 0.251398 0.0288 0.270491 0.2031 0.0315 Uncertain 7_1474414_A->G 7 1474414 1474414 A G snp 676.77 0/1 99 28 9 19 0.68 intronic rs4473929 MICALL2 AU NM_182924 exon1 c.77+106A>G 0.251997 0.0288 Uncertain 7_1474799_A->G 7 1474799 1474799 A G snp 1978.77 0/1 99 180 90 90 0.5 intronic rs67046940 MICALL2 AU NM_182924 exon2 c.552+16A>G 0.251597 0.0288 0.270846 0.1997 0.0314 Uncertain 7_1476520_C->A 7 1476520 1476520 C A snp 1116.77 0/1 99 130 82 48 0.37 intronic rs60306276 MICALL2 AU NM_182924 exon3 c.2261+28C>A 0.254792 0.0288 0.253939 0.2771 0.05 Uncertain 7_1476596_A->G 7 1476596 1476596 A G snp 967.77 0/1 99 109 67 42 0.39 intronic rs10262345 MICALL2 AU NM_182924 exon3 c.2261+104A>G 0.254193 0.0288 Uncertain 7_1476659_G->C 7 1476659 1476659 G C snp 520.77 0/1 99 52 31 21 0.4 intronic rs66491936 MICALL2 AU NM_182924 exon3 c.2261+167G>C 0.0964457 0.0278 Uncertain 7_1476938_A->G 7 1476938 1476938 A G snp 114.8 0/1 21 5 1 4 0.8 intronic rs3923842 MICALL2 AU NM_182924 exon4 c.2939-232A>G 0.102236 0.0278 Uncertain 7_1477113_T->C 7 1477113 1477113 T C snp 479.77 0/1 99 43 24 19 0.44 intronic rs10266642 MICALL2 AU NM_182924 exon4 c.2939-57T>C 0.252596 0.0288 Uncertain 7_1478407_G->A 7 1478407 1478407 G A snp 1567.77 0/1 99 131 61 70 0.53 intronic rs4307248 MICALL2 AU NM_182924 exon8 c.4244-68G>A 0.16853 0.0288 Uncertain 7_1478495_A->G 7 1478495 1478495 A G snp 2106.77 0/1 99 203 105 98 0.48 exonic rs4492283 MICALL2 AU synonymous SNV NM_182924 exon10 c.T2103C p.P701P 0.253195 0.0288 0.277334 0.2028 0.0314 Uncertain 7_1478610_C->T 7 1478610 1478610 C T snp 767.77 0/1 99 55 25 30 0.55 exonic rs4580937 MICALL2 AU nonsynonymous SNV NM_182924 exon10 c.G1988A p.R663H 0.0990415 0.0278 0.094049 0.0853 0.0311 0.62 T 0.0 P -1.089 T 0.015 T 0.001 T Pathogenic 7_1478644_G->A 7 1478644 1478644 G A snp 396.77 0/1 99 24 9 15 0.63 intronic rs4307249 MICALL2 AU NM_182924 exon8 c.4400+13G>A 0.16853 0.0288 0.191771 0.1937 0.0355 Uncertain 7_1479444_G->A 7 1479444 1479444 G A snp 83.77 0/1 28 4 1 3 0.75 intronic rs28718334 MICALL2 AU NM_182924 exon9 c.5329-116G>A 0.252196 0.0288 Uncertain 7_1479659_T->C 7 1479659 1479659 T C snp 1375.77 0/1 99 109 48 61 0.56 exonic rs61287564 MICALL2 AU nonsynonymous SNV NM_182924 exon9 c.A1868G p.K623R 0.0990415 0.0278 0.093134 0.0827 0.0301 0.51 T 0.0 P -1.085 T 0.976 D 0.541 D Pathogenic 7_1479765_G->- 7 1479765 1479765 G - indel 1137.73 0/1 99 55 20 35 0.64 intronic rs59814665 MICALL2 AU NM_182924 exon9 c.5490+44delG 0.276832 0.1986 0.0313 Uncertain 7_1480280_C->T 7 1480280 1480280 C T snp 2187.77 0/1 99 161 68 93 0.58 exonic rs58636013 MICALL2 AU synonymous SNV NM_182924 exon8 c.G1752A p.P584P 0.0976438 0.0298 0.095260 0.0816 0.0305 Uncertain 7_1480286_G->A 7 1480286 1480286 G A snp 1966.77 0/1 99 142 61 81 0.57 exonic rs61741872 MICALL2 AU synonymous SNV NM_182924 exon8 c.C1746T p.D582D 0.0858626 0.0298 0.079409 0.0767 0.0325 Uncertain 7_1481919_C->A 7 1481919 1481919 C A snp 4780.77 1/1 99 173 0 173 1.0 exonic rs4236408 MICALL2 AU synonymous SNV NM_182924 exon7 c.G1620T p.A540A 0.992212 1 0.985391 0.9845 1 Uncertain 7_1482101_C->G 7 1482101 1482101 C G snp 2760.77 0/1 99 225 106 119 0.53 exonic rs12540098 MICALL2 AU nonsynonymous SNV NM_182924 exon7 c.G1438C p.A480P 0.206669 0.0397 0.187375 0.1509 0.0359 0.28 T 0.0 P -0.981 T 0.0 T 0.0 T Pathogenic 7_1482134_C->G 7 1482134 1482134 C G snp 1943.77 0/1 99 154 72 82 0.53 intronic rs4457225 MICALL2 AU NM_182924 exon11 c.7889+14C>G 0.250599 0.0446 0.294710 0.2509 0.0500 Uncertain 7_1484572_A->G 7 1484572 1484572 A G snp 2257.77 1/1 99 86 0 86 1.0 exonic rs10435184 MICALL2 AU synonymous SNV NM_182924 exon6 c.T1134C p.G378G 0.994409 1 0.991674 0.9911 1 Uncertain 7_1484587_C->T 7 1484587 1484587 C T snp 872.77 0/1 99 82 46 36 0.44 exonic rs80020804 MICALL2 AU synonymous SNV NM_182924 exon6 c.G1119A p.P373P 0.0936502 0.0288 0.069331 0.1656 0.0490 Uncertain 7_1486451_G->A 7 1486451 1486451 G A snp 1008.77 0/1 99 82 37 45 0.55 exonic rs75056037 MICALL2 AU nonsynonymous SNV NM_182924 exon5 c.C539T p.A180V 0.102236 0.0288 0.095345 0.1462 0.0439 0.31 T 0.0 P -1.122 T 0.003 T 0.003 T Pathogenic 7_1486571_C->- 7 1486571 1486571 C - indel 351.73 0/1 99 30 15 15 0.5 intronic rs139483599 MICALL2 AU NM_182924 exon13 c.12233+107delC 0.112819 0.0288 Uncertain 7_1490091_G->A 7 1490091 1490091 G A snp 122.77 0/1 64 7 2 5 0.71 intronic rs4720782 MICALL2 AU NM_182924 exon16 c.15693+167G>A 0.0722843 0.0288 Uncertain 7_1510172_G->A 7 1510172 1510172 G A snp 494.77 0/1 99 60 35 25 0.42 UTR3 rs74821124 INTS1 AU 0.01877 0.0913 0.0052 0.1011 Uncertain 7_1515564_C->T 7 1515564 1515564 C T snp 1200.77 0/1 99 96 43 53 0.55 intronic rs4720792 INTS1 AU NM_001080453 exon10 c.5371-19C>T 0.0489217 0.0288 0.022049 0.0341 0.0174 Uncertain 7_1517700_A->G 7 1517700 1517700 A G snp 553.77 1/1 42 17 0 17 1.0 intronic rs10265526 INTS1 AU NM_001080453 exon15 c.7360+128A>G 0.680112 0.745 Uncertain 7_1517718_A->G 7 1517718 1517718 A G snp 143.77 0/1 99 12 5 7 0.58 intronic rs10265535 INTS1 AU NM_001080453 exon15 c.7360+146A>G 0.616214 0.7143 Uncertain 7_1517971_G->A 7 1517971 1517971 G A snp 1348.77 0/1 99 103 43 60 0.58 intronic rs4725131 INTS1 AU NM_001080453 exon16 c.7789-30G>A 0.0634984 0.0317 0.057098 0.0820 0.0320 Uncertain 7_1518336_G->A 7 1518336 1518336 G A snp 398.77 0/1 99 27 14 13 0.48 intronic rs11977356 INTS1 AU NM_001080453 exon17 c.8149-25G>A 0.576877 0.7143 0.457515 0.5501 0.7118 Uncertain 7_1519011_G->A 7 1519011 1519011 G A snp 323.77 0/1 99 25 7 18 0.72 intronic rs56975547 INTS1 AU NM_001080453 exon18 c.8853-54G>A 0.56849 0.7143 Uncertain 7_1519361_A->G 7 1519361 1519361 A G snp 670.77 0/1 99 42 14 28 0.67 intronic rs9692164 INTS1 AU NM_001080453 exon18 c.9108+41A>G 0.614217 0.7103 0.609454 0.5735 0.6987 Uncertain 7_1519892_C->G 7 1519892 1519892 C G snp 153.77 0/1 99 10 5 5 0.5 intronic rs4546558 INTS1 AU NM_001080453 exon19 c.9740-60C>G 0.615815 0.7143 Uncertain 7_1519946_A->T 7 1519946 1519946 A T snp 225.77 0/1 99 19 11 8 0.42 intronic rs7783971 INTS1 AU NM_001080453 exon19 c.9740-6A>T 0.615815 0.7143 0.531964 0.5005 0.6892 Uncertain 7_1522157_T->C 7 1522157 1522157 T C snp 880.77 0/1 99 65 33 32 0.49 intronic rs10227674 INTS1 AU NM_001080453 exon22 c.11969-24T>C 0.595847 0.7143 0.488853 0.4929 0.6860 Uncertain 7_1522175_A->G 7 1522175 1522175 A G snp 2852.77 1/1 99 94 0 94 1.0 intronic rs10224038 INTS1 AU NM_001080453 exon22 c.11969-6A>G 0.786741 0.746 0.769725 0.7313 0.7191 Uncertain 7_1523559_T->C 7 1523559 1523559 T C snp 705.77 0/1 99 49 22 27 0.55 intronic rs10235180 INTS1 AU NM_001080453 exon23 c.13277+70T>C 0.616813 0.7143 Uncertain 7_1523956_A->G 7 1523956 1523956 A G snp 81.77 0/1 28 4 1 3 0.75 intronic rs11972722 INTS1 AU NM_001080453 exon24 c.13594+150A>G 0.615615 0.7143 Uncertain 7_1526181_G->A 7 1526181 1526181 G A snp 464.77 0/1 99 40 21 19 0.47 intronic rs6969991 INTS1 AU NM_001080453 exon27 c.16048-79G>A 0.575879 0.7143 Uncertain 7_1527255_C->T 7 1527255 1527255 C T snp 32.77 0/1 61 5 3 2 0.4 intronic rs7785978 INTS1 AU NM_001080453 exon30 c.17183-140C>T 0.576877 0.7143 Uncertain 7_1527687_C->T 7 1527687 1527687 C T snp 671.77 0/1 99 47 25 22 0.47 intronic rs10279407 INTS1 AU NM_001080453 exon30 c.17381+94C>T 0.615016 0.7143 Uncertain 7_1527735_G->A 7 1527735 1527735 G A snp 343.77 0/1 99 17 6 11 0.65 intronic rs10267772 INTS1 AU NM_001080453 exon30 c.17381+142G>A 0.614617 0.7143 Uncertain 7_1528945_C->A 7 1528945 1528945 C A snp 393.77 0/1 99 134 105 29 0.22 intronic rs78793025 INTS1 AU NM_001080453 exon31 c.18767-34C>A Uncertain 7_1528946_A->G 7 1528946 1528946 A G snp 510.77 0/1 99 132 103 29 0.22 intronic rs80163046 INTS1 AU NM_001080453 exon31 c.18767-33A>G Uncertain 7_1528947_T->C 7 1528947 1528947 T C snp 510.77 0/1 99 133 100 33 0.25 intronic rs79178284 INTS1 AU NM_001080453 exon31 c.18767-32T>C Uncertain 7_1529201_G->A 7 1529201 1529201 G A snp 1259.77 0/1 99 156 99 57 0.37 intronic rs4425657 INTS1 AU NM_001080453 exon32 c.19014-25G>A 0.480831 0.7123 0.367025 0.4970 0.7250 Uncertain 7_1529427_C->A 7 1529427 1529427 C A snp 118.77 0/1 99 10 5 5 0.5 intronic rs4380839 INTS1 AU NM_001080453 exon32 c.19106+109C>A 0.615016 0.7123 Uncertain 7_1532535_C->T 7 1532535 1532535 C T snp 44.77 0/1 33 3 1 2 0.67 intronic rs10241178 INTS1 AU NM_001080453 exon33 c.22433-110C>T 0.615016 0.7113 Uncertain 7_1532536_A->G 7 1532536 1532536 A G snp 80.78 0/1 24 4 1 3 0.75 intronic rs10247000 INTS1 AU NM_001080453 exon33 c.22433-109A>G 0.615415 0.7123 Uncertain 7_1532561_G->A 7 1532561 1532561 G A snp 356.77 0/1 99 28 12 16 0.57 intronic rs56373682 INTS1 AU NM_001080453 exon33 c.22433-84G>A Uncertain 7_1532631_G->A 7 1532631 1532631 G A snp 2134.77 0/1 99 141 57 84 0.6 intronic rs10229645 INTS1 AU NM_001080453 exon33 c.22433-14G>A 0.615016 0.7123 0.531214 0.4953 0.6878 Uncertain 7_1533513_A->G 7 1533513 1533513 A G snp 1304.77 0/1 99 120 62 58 0.48 exonic rs2251226 INTS1 AU synonymous SNV NM_001080453 exon15 c.T1945C p.L649L 0.615615 0.7123 0.529958 0.5513 0.7158 Uncertain 7_1533556_T->C 7 1533556 1533556 T C snp 857.77 0/1 99 81 42 39 0.48 intronic rs2251231 INTS1 AU NM_001080453 exon34 c.23335+9T>C 0.540735 0.7123 0.420237 0.5024 0.6796 Uncertain 7_1533566_A->G 7 1533566 1533566 A G snp 813.77 0/1 99 75 41 34 0.45 intronic rs2251232 INTS1 AU NM_001080453 exon34 c.23335+19A>G 0.614417 0.7113 0.527478 0.5207 0.6709 Uncertain 7_1533610_G->A 7 1533610 1533610 G A snp 357.77 0/1 99 40 25 15 0.38 intronic rs2304356 INTS1 AU NM_001080453 exon34 c.23335+63G>A 0.0625 0.1746 Uncertain 7_1534425_A->G 7 1534425 1534425 A G snp 1294.77 0/1 99 83 34 49 0.59 intronic rs752791 INTS1 AU NM_001080453 exon35 c.24239-26A>G 0.615016 0.7113 0.539708 0.5236 0.6830 Uncertain 7_1534593_C->A 7 1534593 1534593 C A snp 1193.77 0/1 99 132 78 54 0.41 intronic rs752792 INTS1 AU NM_001080453 exon35 c.24317+64C>A 0.490415 0.7133 Uncertain 7_1534987_T->G 7 1534987 1534987 T G snp 40.77 0/1 33 3 1 2 0.67 intronic rs111391955 INTS1 AU NM_001080453 exon36 c.24856-81T>G 0.0626997 0.0288 Uncertain 7_1535051_A->G 7 1535051 1535051 A G snp 395.77 0/1 99 38 21 17 0.45 intronic rs892530 INTS1 AU NM_001080453 exon36 c.24856-17A>G 0.611422 0.7133 0.525958 0.4945 0.6881 Uncertain 7_1536717_T->C 7 1536717 1536717 T C snp 600.77 0/1 99 48 28 20 0.42 intronic rs3735660 INTS1 AU NM_001080453 exon38 c.26561-56T>C 0.608027 0.7133 Uncertain 7_1538539_A->G 7 1538539 1538539 A G snp 450.77 0/1 99 31 15 16 0.52 intronic rs57092311 INTS1 AU NM_001080453 exon40 c.28276+51A>G 0.609026 0.7133 0.540012 Uncertain 7_1538595_C->A 7 1538595 1538595 C A snp 86.77 0/1 30 4 1 3 0.75 intronic rs2289034 INTS1 AU NM_001080453 exon41 c.28398-15C>A 0.58746 0.7103 0.4843 0.6757 Uncertain 7_1538877_A->G 7 1538877 1538877 A G snp 1165.77 0/1 99 111 61 50 0.45 intronic rs750005 INTS1 AU NM_001080453 exon42 c.28678-13A>G 0.608626 0.7133 0.525747 0.4913 0.6893 Uncertain 7_1539799_C->T 7 1539799 1539799 C T snp 1460.77 0/1 99 127 65 62 0.49 intronic rs2304357 INTS1 AU NM_001080453 exon45 c.29593-6C>T 0.484824 0.7014 0.381981 0.4589 0.6953 Uncertain 7_1540049_A->G 7 1540049 1540049 A G snp 227.77 0/1 99 15 7 8 0.53 intronic rs2304358 INTS1 AU NM_001080453 exon45 c.29790+47A>G 0.615815 0.7133 0.539907 0.5362 0.7005 Uncertain 7_1542697_G->A 7 1542697 1542697 G A snp 2613.77 0/1 99 218 102 116 0.53 exonic rs3752714 INTS1 AU synonymous SNV NM_001080453 exon3 c.C189T p.A63A 0.585663 0.7123 0.513893 0.4807 0.6862 Uncertain 7_1542814_T->C 7 1542814 1542814 T C snp 1226.77 0/1 99 98 48 50 0.51 exonic rs3752715 INTS1 AU synonymous SNV NM_001080453 exon3 c.A72G p.P24P 0.584665 0.7063 0.497844 0.4840 0.6784 Uncertain 7_1543981_C->A 7 1543981 1543981 C A snp 1006.77 0/1 99 89 42 47 0.53 UTR5 rs1369011 INTS1 AU 0.577875 0.7143 0.403050 0.5389 0.7148 Uncertain 7_1544128_G->T 7 1544128 1544128 G T snp 863.77 0/1 99 64 24 40 0.63 upstream rs2278460 INTS1 AU 0.560104 0.7153 0.357908 0.4970 0.7344 Uncertain 7_1574016_C->T 7 1574016 1574016 C T snp 2575.77 0/1 99 176 72 104 0.59 intronic rs3824069 MAFK AU 0.0726837 0.0278 0.0169 0.0152 Uncertain 7_1574403_A->G 7 1574403 1574403 A G snp 4775.77 1/1 99 193 0 193 1.0 intronic rs4720833 MAFK AU 0.680112 0.6855 0.6313 0.6081 Uncertain 7_1579480_G->A 7 1579480 1579480 G A snp 63.77 0/1 92 9 6 3 0.33 intronic rs3735655 MAFK AU NM_002360 exon3 c.748-96G>A 0.0429313 0.0278 Uncertain 7_1586653_-->GCC 7 1586653 1586653 - GCC indel 905.73 0/1 99 51 29 22 0.43 exonic rs112463195 TMEM184A AU nonframeshift insertion NM_001097620 exon9 c.1176_1177insGGC p.S393delinsGS 0.5494 0.6367 ID=COSM1088016;OCCURENCE=1(endometrium),2(large_intestine),4(breast) Uncertain 7_1586662_T->C 7 1586662 1586662 T C snp 556.77 0/1 99 57 32 25 0.44 exonic rs3779607 TMEM184A AU nonsynonymous SNV NM_001097620 exon9 c.A1168G p.S390G 0.626997 0.6895 0.539426 0.6027 0.6638 0.48 T 0.0 P -0.966 T 0.0 T 0.0 T Pathogenic 7_1586866_T->C 7 1586866 1586866 T C snp 123.77 0/1 99 18 11 7 0.39 intronic rs3824072 TMEM184A AU NM_001097620 exon1 c.230+49T>C 0.677716 0.6895 0.612436 0.6132 0.6781 Uncertain 7_1588391_A->G 7 1588391 1588391 A G snp 712.77 0/1 99 89 58 31 0.35 intronic rs3814481 TMEM184A AU NM_001097620 exon3 c.1737+67A>G 0.67472 0.6895 0.6586 0.6971 Uncertain 7_1588549_G->A 7 1588549 1588549 G A snp 1012.77 0/1 99 72 32 40 0.56 intronic rs3814482 TMEM184A AU NM_001097620 exon3 c.1737+225G>A 0.542332 0.6835 0.5335 0.6783 Uncertain 7_1588768_G->A 7 1588768 1588768 G A snp 868.77 0/1 99 50 12 38 0.76 intronic rs1124871 TMEM184A AU NM_001097620 exon3 c.1737+444G>A 0.589257 0.6458 0.5468 0.595 Uncertain 7_1589056_G->A 7 1589056 1589056 G A snp 334.77 0/1 99 27 14 13 0.48 intronic rs4294092 TMEM184A AU NM_001097620 exon4 c.2902-433G>A 0.600439 0.6905 Uncertain 7_1589083_G->A 7 1589083 1589083 G A snp 612.77 0/1 99 43 19 24 0.56 intronic rs1865348 TMEM184A AU NM_001097620 exon4 c.2902-406G>A 0.65595 0.6905 Uncertain 7_1589417_T->G 7 1589417 1589417 T G snp 400.77 0/1 99 48 29 19 0.4 intronic rs10237660 TMEM184A AU NM_001097620 exon4 c.2902-72T>G 0.664936 0.6905 Uncertain 7_1590280_A->G 7 1590280 1590280 A G snp 37.77 0/1 66 4 2 2 0.5 intronic rs2304359 TMEM184A AU NM_001097620 exon7 c.3865-172A>G 0.609225 0.6925 Uncertain 7_1590368_A->G 7 1590368 1590368 A G snp 1669.77 1/1 99 54 0 54 1.0 intronic rs6463921 TMEM184A AU NM_001097620 exon7 c.3865-84A>G 0.990016 1 Uncertain 7_1590376_T->C 7 1590376 1590376 T C snp 590.77 0/1 99 59 36 23 0.39 intronic rs2304360 TMEM184A AU NM_001097620 exon7 c.3865-76T>C 0.670927 0.6895 Uncertain 7_1590443_T->C 7 1590443 1590443 T C snp 1486.77 0/1 99 151 83 68 0.45 intronic rs2304361 TMEM184A AU NM_001097620 exon7 c.3865-9T>C 0.609225 0.6915 0.572004 0.6020 0.6708 Uncertain 7_1590706_T->C 7 1590706 1590706 T C snp 63.77 0/1 92 10 6 4 0.4 intronic TMEM184A AU NM_001097620 exon7 c.4031+88T>C Uncertain 7_1595068_G->A 7 1595068 1595068 G A snp 731.77 0/1 99 54 22 32 0.59 exonic rs17852421 TMEM184A AU nonsynonymous SNV NM_001097620 exon2 c.C53T p.A18V 0.222045 0.1915 0.214297 0.2486 0.1780 0.35 T 0.0 P -0.972 T 0.001 T 0.0 T Pathogenic 7_1626835_G->A 7 1626835 1626835 G A snp 1794.77 1/1 99 70 0 70 1.0 ncRNA_exonic rs73289427 PSMG3-AS1 AU 0.201278 0.381 0.2692 . Uncertain 7_1627632_T->C 7 1627632 1627632 T C snp 4881.77 1/1 99 174 0 174 1.0 ncRNA_exonic rs7800178 PSMG3-AS1 AU 0.536941 0.6776 0.6168 0.6456 Uncertain 7_1627726_C->G 7 1627726 1627726 C G snp 1666.77 1/1 99 49 0 49 1.0 ncRNA_exonic rs62436912 PSMG3-AS1 AU 0.151757 0.3859 Uncertain 7_1855531_G->A 7 1855531 1855531 G A snp 292.77 0/1 99 26 13 13 0.5 UTR3 rs7680 MAD1L1 AU 0.120008 0.1419 Uncertain 7_1878377_A->G 7 1878377 1878377 A G snp 809.77 0/1 99 77 42 35 0.45 intronic rs3889573 MAD1L1 AU NM_003550 exon1 c.159+22513A>G 0.836462 0.8621 0.7490 0.8827 0 D 0.000 P -1.032 T Uncertain 7_1878453_T->A 7 1878453 1878453 T A snp 968.77 0/1 99 89 46 43 0.48 intronic rs1078112 MAD1L1 AU NM_003550 exon1 c.159+22589T>A 0.444489 0.4335 0.4062 0.4551 0 D 0.0 P -0.920 T Uncertain 7_1886725_T->A 7 1886725 1886725 T A snp 56.74 1/1 6 2 0 2 1.0 intronic rs6977733 MAD1L1 AU NM_003550 exon1 c.159+30861T>A 0.315895 0.4187 Uncertain 7_1886805_A->G 7 1886805 1886805 A G snp 257.77 0/1 99 30 19 11 0.37 intronic rs11762803 MAD1L1 AU NM_003550 exon1 c.159+30941A>G 0.275958 0.2282 Uncertain 7_1886865_C->A 7 1886865 1886865 C A snp 864.77 0/1 99 69 32 37 0.54 intronic rs6954521 MAD1L1 AU NM_003550 exon1 c.159+31001C>A 0.317692 0.4187 0.3363 0.4442 Uncertain 7_1886872_T->G 7 1886872 1886872 T G snp 1024.77 0/1 99 77 36 41 0.53 intronic rs6978048 MAD1L1 AU NM_003550 exon1 c.159+31008T>G 0.317692 0.4187 0.3358 0.4407 Uncertain 7_1886937_C->T 7 1886937 1886937 C T snp 1949.77 0/1 99 145 62 83 0.57 intronic rs6954673 MAD1L1 AU NM_003550 exon1 c.159+31073C>T 0.317492 0.4187 0.3333 0.4492 0 D 0.0 P -0.949 T Uncertain 7_1887037_T->C 7 1887037 1887037 T C snp 2329.77 0/1 99 210 117 93 0.44 intronic rs73046334 MAD1L1 AU NM_003550 exon1 c.159+31173T>C 0.15595 0.1369 0.2526 0.1184 Uncertain 7_1887362_G->A 7 1887362 1887362 G A snp 2791.77 0/1 99 242 121 121 0.5 intronic rs6957894 MAD1L1 AU NM_003550 exon1 c.159+31498G>A 0.407748 0.4187 0.3830 0.4591 0 D 0.0 P -0.947 T Uncertain 7_1888185_A->G 7 1888185 1888185 A G snp 105.77 0/1 99 9 5 4 0.44 intronic rs59248873 MAD1L1 AU NM_003550 exon1 c.159+32321A>G 0.420927 0.4187 Uncertain 7_1888294_C->G 7 1888294 1888294 C G snp 2882.77 1/1 99 102 0 102 1.0 intronic rs4719320 MAD1L1 AU NM_003550 exon1 c.159+32430C>G 0.69349 0.6478 Uncertain 7_1888684_ACACACACAC->- 7 1888684 1888693 ACACACACAC - indel 2733.73 1/1 71 39 1 38 0.97 intronic rs66991912 MAD1L1 AU NM_003550 exon1 c.159+32820_159+32829delACACACACAC Uncertain 7_1894022_A->- 7 1894022 1894022 A - indel 3928.73 1/1 59 204 24 180 0.88 intronic rs373884733 MAD1L1 AU NM_003550 exon1 c.159+38158delA 0.00219649 0.0099 0.0004 0.0069 Uncertain 7_1894087_A->G 7 1894087 1894087 A G snp 2361.77 0/1 99 182 84 98 0.54 intronic rs189181036 MAD1L1 AU NM_003550 exon1 c.159+38223A>G 0.00239617 0.0119 Uncertain 7_1894116_T->C 7 1894116 1894116 T C snp 1940.77 0/1 99 148 71 77 0.52 intronic rs7810038 MAD1L1 AU NM_003550 exon1 c.159+38252T>C 0.438898 0.4206 Uncertain 7_1914059_T->C 7 1914059 1914059 T C snp 259.77 0/1 99 16 8 8 0.5 intronic rs55934553 MAD1L1 AU NM_003550 exon2 c.82130-23776T>C 0.376797 0.2192 Uncertain 7_1914350_A->G 7 1914350 1914350 A G snp 155.77 0/1 99 11 5 6 0.55 intronic rs60238952 MAD1L1 AU NM_003550 exon2 c.82130-23485A>G 0.390375 0.2242 Uncertain 7_1976457_C->T 7 1976457 1976457 C T snp 1924.77 0/1 99 166 84 82 0.49 exonic rs1801368 MAD1L1 AU nonsynonymous SNV NM_003550 exon17 c.G1673A p.R558H 0.304712 0.4454 0.274933 0.4088 0.5224 0.12 T 0.0 P -0.910 T 0.004 T 0.002 T ID=CM103224;DIS=Lung cancer, association with;TAG=DFP;PUB=20516147 DFP Pathogenic 7_1976556_G->A 7 1976556 1976556 G A snp 1609.77 0/1 99 217 136 81 0.37 intronic rs2280550 MAD1L1 AU NM_003550 exon3 c.120828+23G>A 0.305312 0.4435 0.277325 0.3808 0.4941 Uncertain 7_1976667_G->T 7 1976667 1976667 G T snp 407.77 0/1 99 36 21 15 0.42 intronic rs2280548 MAD1L1 AU NM_003550 exon3 c.120828+134G>T 0.305511 0.4444 Uncertain 7_2041500_G->C 7 2041500 2041500 G C snp 54.74 1/1 6 2 0 2 1.0 intronic rs939940 MAD1L1 AU NM_003550 exon6 c.185994-199G>C 0.979832 0.999 Uncertain 7_2041638_G->A 7 2041638 2041638 G A snp 2089.77 0/1 99 142 62 80 0.56 intronic rs1107591 MAD1L1 AU NM_003550 exon6 c.185994-61G>A 0.353035 0.5397 0.332457 Uncertain 7_2041887_A->C 7 2041887 2041887 A C snp 648.77 1/1 48 20 0 20 1.0 intronic rs4721296 MAD1L1 AU NM_003550 exon6 c.186051+131A>C 0.984026 0.999 Uncertain 7_2054315_G->- 7 2054315 2054315 G - indel 1378.73 0/1 99 95 48 47 0.49 intronic rs142140779 MAD1L1 AU NM_003550 exon7 c.198572+38delG 0.16274 0.1766 0.149597 0.2038 0.1474 Uncertain 7_2119174_C->T 7 2119174 2119174 C T snp 1440.77 1/1 99 44 0 44 1.0 intronic rs7805774 MAD1L1 AU NM_003550 exon8 c.253268+10201C>T 0.759784 0.7708 Uncertain 7_2257612_G->A 7 2257612 2257612 G A snp 717.77 0/1 99 65 34 31 0.48 exonic rs6951493 MAD1L1 AU synonymous SNV NM_003550 exon7 c.C663T p.H221H 0.365615 0.5139 0.334665 0.3496 0.5193 Uncertain 7_2258899_G->A 7 2258899 2258899 G A snp 48.74 1/1 6 2 0 2 1.0 intronic rs1639916 MAD1L1 AU NM_003550 exon14 c.403261-67G>A 0.699681 0.6151 Uncertain 7_2278661_T->A 7 2278661 2278661 T A snp 43.77 0/1 70 4 2 2 0.5 intronic rs10950620 FTSJ2 AU NM_013393 exon2 c.4296-391T>A Uncertain 7_2278663_T->A 7 2278663 2278663 T A snp 212.84 1/1 18 6 0 6 1.0 intronic rs4721496 FTSJ2 AU NM_013393 exon2 c.4296-389T>A Uncertain 7_2279482_A->C 7 2279482 2279482 A C snp 413.77 0/1 99 20 7 13 0.65 intronic rs11984133 FTSJ2 AU NM_013393 exon2 c.4586+140A>C 0.367612 0.5099 Uncertain 7_2279851_T->C 7 2279851 2279851 T C snp 382.77 0/1 99 18 5 13 0.72 intronic rs6962067 FTSJ2 AU NM_013393 exon2 c.4586+509T>C 0.888578 0.8006 Uncertain 7_2290314_C->T 7 2290314 2290314 C T snp 148.77 0/1 59 7 2 5 0.71 intronic rs12699806 NUDT1 AU NM_002452 exon4 c.6254-149C>T 0.610823 0.7302 Uncertain 7_2290317_T->G 7 2290317 2290317 T G snp 146.77 0/1 61 7 2 5 0.71 intronic rs60298419 NUDT1 AU NM_002452 exon4 c.6254-146T>G 0.611222 0.7302 Uncertain 7_2290320_C->- 7 2290320 2290320 C - indel 153.73 0/1 64 7 2 5 0.71 intronic rs373496719 NUDT1 AU NM_002452 exon4 c.6254-143delC 0.611022 0.7292 Uncertain 7_2290328_C->T 7 2290328 2290328 C T snp 234.77 0/1 57 11 2 9 0.82 intronic rs10230814 NUDT1 AU NM_002452 exon4 c.6254-135C>T 0.611422 0.7312 Uncertain 7_2290336_T->G 7 2290336 2290336 T G snp 203.77 0/1 60 12 2 10 0.83 intronic rs10249180 NUDT1 AU NM_002452 exon4 c.6254-127T>G 0.311901 0.5357 Uncertain 7_2290372_C->T 7 2290372 2290372 C T snp 372.77 0/1 99 26 11 15 0.58 intronic rs10230822 NUDT1 AU NM_002452 exon4 c.6254-91C>T 0.676917 0.6726 Uncertain 7_2292881_-->TG 7 2292881 2292881 - TG indel 2336.73 0/1 99 114 55 59 0.52 UTR3 rs3075440 SNX8 AU 0.869609 0.7917 Uncertain 7_2296493_A->G 7 2296493 2296493 A G snp 501.77 0/1 99 43 21 22 0.51 intronic rs2302070 SNX8 AU NM_013321 exon2 c.1818-15A>G 0.83127 0.8026 0.882575 0.9048 0.8157 Uncertain 7_2297006_A->G 7 2297006 2297006 A G snp 561.77 0/1 99 59 33 26 0.44 exonic rs6888 SNX8 AU synonymous SNV NM_013321 exon9 c.T1128C p.I376I 0.90615 0.7996 0.966759 0.9306 0.8187 Uncertain 7_2303109_G->A 7 2303109 2303109 G A snp 373.77 0/1 99 28 12 16 0.57 intronic rs2286207 SNX8 AU NM_013321 exon5 c.8307+112G>A 0.365216 0.5486 Uncertain 7_2303986_T->C 7 2303986 2303986 T C snp 882.77 0/1 99 91 52 39 0.43 exonic rs2286206 SNX8 AU synonymous SNV NM_013321 exon6 c.A729G p.A243A 0.843251 0.7996 0.899585 0.9117 0.8161 Uncertain 7_2304191_A->C 7 2304191 2304191 A C snp 177.77 0/1 99 16 8 8 0.5 intronic rs2286205 SNX8 AU NM_013321 exon6 c.9403+98A>C 0.873003 0.7996 Uncertain 7_2314628_C->- 7 2314628 2314628 C - indel 259.73 0/1 99 15 6 9 0.6 intronic rs5881921 SNX8 AU NM_013321 exon9 c.20056-118delC 0.901757 0.7986 Uncertain 7_2314652_G->A 7 2314652 2314652 G A snp 593.77 0/1 99 34 15 19 0.56 intronic rs878534 SNX8 AU NM_013321 exon9 c.20056-94G>A 0.317093 0.5387 Uncertain 7_2315008_G->C 7 2315008 2315008 G C snp 299.77 0/1 99 17 7 10 0.59 intronic rs2398667 SNX8 AU NM_013321 exon9 c.20174+144G>C 0.869209 0.7986 Uncertain 7_2394746_T->C 7 2394746 2394746 T C snp 245.77 0/1 99 22 9 13 0.59 exonic rs9690787 EIF3B AU nonsynonymous SNV NM_001037283 exon1 c.T190C p.S64P 0.751198 0.8621 0.7901 0.7273 1 T 0.0 P -0.956 T 0.0 T 0.0 T Pathogenic 7_2400306_T->C 7 2400306 2400306 T C snp 1213.77 0/1 99 92 43 49 0.53 intronic rs953770 EIF3B AU NM_003751 exon2 c.5788-38T>C 0.467652 0.7242 0.446332 0.5193 0.7591 Uncertain 7_2405885_C->A 7 2405885 2405885 C A snp 46.77 0/1 72 5 2 3 0.6 intronic rs2286204 EIF3B AU NM_003751 exon7 c.11395-66C>A 0.410144 0.7232 Uncertain 7_2406738_A->- 7 2406738 2406738 A - indel 286.73 0/1 41 49 9 40 0.82 intronic rs60382761 EIF3B AU NM_003751 exon9 c.12124+58delA 0.415735 0.4891 Uncertain 7_2409035_C->T 7 2409035 2409035 C T snp 1130.77 1/1 81 38 0 38 1.0 intronic rs2301944 EIF3B AU NM_003751 exon10 c.14550-71C>T 0.800719 0.874 Uncertain 7_2411644_C->T 7 2411644 2411644 C T snp 264.77 0/1 99 12 4 8 0.67 intronic rs6958478 EIF3B AU NM_003751 exon11 c.16928+160C>T 0.30651 0.1379 Uncertain 7_2412493_C->T 7 2412493 2412493 C T snp 1049.77 0/1 99 83 40 43 0.52 intronic rs1548595 EIF3B AU NM_003751 exon12 c.17874+63C>T 0.29992 0.1379 Uncertain 7_2412566_C->G 7 2412566 2412566 C G snp 256.8 1/1 21 7 0 7 1.0 intronic rs1548596 EIF3B AU NM_003751 exon12 c.17874+136C>G 0.823083 0.874 Uncertain 7_2414142_A->G 7 2414142 2414142 A G snp 1859.77 1/1 99 63 0 63 1.0 intronic rs886632 EIF3B AU NM_003751 exon13 c.19606-20A>G 0.805711 0.874 0.786022 0.7488 0.8938 Uncertain 7_2414365_A->G 7 2414365 2414365 A G snp 2753.77 1/1 99 103 0 103 1.0 intronic rs884565 EIF3B AU NM_003751 exon13 c.19685+124A>G 0.805711 0.874 Uncertain 7_2414487_T->C 7 2414487 2414487 T C snp 218.84 1/1 18 7 0 7 1.0 intronic rs884564 EIF3B AU NM_003751 exon13 c.19685+246T>C 0.805711 0.874 Uncertain 7_2416822_A->G 7 2416822 2416822 A G snp 1957.77 0/1 99 159 80 79 0.5 intronic rs2240347 EIF3B AU NM_003751 exon15 c.22154+112A>G 0.383387 0.6508 Uncertain 7_2418085_A->T 7 2418085 2418085 A T snp 60.77 0/1 89 13 8 5 0.38 intronic rs55738857 EIF3B AU NM_003751 exon16 c.23767-238A>T Uncertain 7_2418116_T->A 7 2418116 2418116 T A snp 275.77 0/1 99 26 15 11 0.42 intronic rs6461350 EIF3B AU NM_003751 exon16 c.23767-207T>A 0.358427 0.1419 Uncertain 7_2418138_T->C 7 2418138 2418138 T C snp 857.77 0/1 99 67 31 36 0.54 intronic rs56321947 EIF3B AU NM_003751 exon16 c.23767-185T>C 0.442093 0.7321 Uncertain 7_2418142_G->C 7 2418142 2418142 G C snp 955.77 0/1 99 73 33 40 0.55 intronic rs56026814 EIF3B AU NM_003751 exon16 c.23767-181G>C 0.440695 0.7312 Uncertain 7_2418442_C->T 7 2418442 2418442 C T snp 1547.77 0/1 99 120 59 61 0.51 intronic rs540192136 EIF3B AU NM_003751 exon16 c.23845+41C>T 0.000199681 1.735e-05 0 Uncertain 7_2418645_A->G 7 2418645 2418645 A G snp 443.77 1/1 33 15 0 15 1.0 intronic rs6461351 EIF3B AU NM_003751 exon17 c.24212-123A>G 0.792133 0.875 Uncertain 7_2434522_G->A 7 2434522 2434522 G A snp 1677.77 1/1 99 68 0 68 1.0 intergenic rs1978169 EIF3B AU 0.801518 0.9306 Uncertain 7_2479965_-->GT 7 2479965 2479965 - GT indel 1308.73 0/1 99 90 37 53 0.59 ncRNA_intronic rs145596881 LOC101927181 AU 0.0133786 0.0228 Uncertain 7_2515382_-->C 7 2515382 2515382 - C indel 8121.73 1/1 99 205 0 205 1.0 exonic rs397976651 GRIFIN AU unknown 0.999914 1.0000 1 Uncertain 7_2552825_G->A 7 2552825 2552825 G A snp 615.77 0/1 99 48 25 23 0.48 intergenic rs187443334 GRIFIN AU 0.00499201 0.0238 0.000097 0.0011 0.0135 0.01 T 0.995 D -0.740 T Uncertain 7_2552882_GATG->- 7 2552882 2552885 GATG - indel 5960.73 ./1 99 118 1 117 0.99 intergenic rs61564232 GRIFIN AU 0.0588 0.2215 Uncertain 7_2552881_-->GATG 7 2552881 2552881 - GATG indel 5960.73 ./1 99 118 1 117 0.99 intergenic rs34637446 GRIFIN AU 0.2919 0.4513 Uncertain 7_2565268_C->A 7 2565268 2565268 C A snp 1427.77 0/1 99 119 56 63 0.53 intronic rs893239 LFNG AU NM_001040168 exon5 c.5823-50C>A 0.544928 0.2976 0.660511 0.6566 0.3156 Uncertain 7_2566458_C->T 7 2566458 2566458 C T snp 1714.77 0/1 99 158 83 75 0.47 intronic rs200232463 LFNG AU NM_001040168 exon7 c.6974-11C>T 0.000998403 0.005 0.0006 0.0080 Uncertain 7_2566484_C->T 7 2566484 2566484 C T snp 2131.77 0/1 99 196 96 100 0.51 exonic rs61743870 LFNG AU synonymous SNV NM_001040167 exon7 c.C1002T p.Y334Y 0.0802716 0.1399 0.028919 0.0535 0.1419 Uncertain 7_2577781_T->C 7 2577781 2577781 T C snp 1503.77 0/1 99 133 69 64 0.48 exonic rs1043291 BRAT1 AR synonymous SNV NM_152743 exon14 c.A2388G p.E796E 0.461462 0.3661 0.438034 0.3895 0.3627 Uncertain 7_2578181_C->T 7 2578181 2578181 C T snp 1603.77 0/1 99 119 58 61 0.51 exonic rs61627394 BRAT1 AR nonsynonymous SNV NM_152743 exon14 c.G1988A p.G663D 0.116613 0.2748 0.028364 0.0597 0.2878 0.63 T 0.0 P -1.050 T 0.019 T 0.006 T Pathogenic 7_2578237_T->C 7 2578237 2578237 T C snp 2047.77 0/1 99 161 72 89 0.55 exonic rs4719552 BRAT1 AR synonymous SNV NM_152743 exon14 c.A1932G p.R644R 0.460863 0.3671 0.354012 0.3990 0.3745 Uncertain 7_2578246_C->T 7 2578246 2578246 C T snp 1665.77 0/1 99 166 91 75 0.45 exonic rs2917726 BRAT1 AR synonymous SNV NM_152743 exon14 c.G1923A p.A641A 0.0888578 0.2679 0.038406 0.0662 0.2548 Uncertain 7_2578371_G->A 7 2578371 2578371 G A snp 2421.77 0/1 99 188 85 103 0.55 exonic rs56727079 BRAT1 AR nonsynonymous SNV NM_152743 exon14 c.C1798T p.L600F 0.109824 0.2748 0.019312 0.0560 0.2783 0 D 0.998 P -0.976 T 1.0 D 0.997 D ID=COSM3431520;OCCURENCE=1(thyroid),1(large_intestine) Pathogenic 7_2578434_G->T 7 2578434 2578434 G T snp 1923.77 0/1 99 151 78 73 0.48 intronic rs4721763 BRAT1 AR NM_152743 exon1 c.696+36G>T 0.459265 0.3661 0.430930 0.3919 0.3698 Uncertain 7_2581994_T->C 7 2581994 2581994 T C snp 1627.77 0/1 99 166 97 69 0.42 intronic rs3735104 BRAT1 AR NM_152743 exon8 c.4143+149T>C 0.460064 0.3651 Uncertain 7_2582153_-->CCCCAGCCTCCCGGGTGT 7 2582153 2582153 - CCCCAGCCTCCCGGGTGT indel 13157.7 1/1 99 74 0 74 1.0 intronic rs11274844 BRAT1 AR NM_152743 exon8 c.4143+308insCCCCAGCCTCCCGGGTGT 0.997005 0.997 Uncertain 7_2582200_C->G 7 2582200 2582200 C G snp 2077.77 0/1 99 169 85 84 0.5 intronic rs3735105 BRAT1 AR NM_152743 exon8 c.4143+355C>G 0.16873 0.2738 Uncertain 7_2582233_A->G 7 2582233 2582233 A G snp 2781.77 0/1 99 240 123 117 0.49 intronic rs3735106 BRAT1 AR NM_152743 exon8 c.4143+388A>G 0.46246 0.3651 Uncertain 7_2582381_T->A 7 2582381 2582381 T A snp 3456.77 0/1 99 250 117 133 0.53 intronic rs61673178 BRAT1 AR NM_152743 exon9 c.5135-456T>A 0.46226 0.3631 Uncertain 7_2582907_C->T 7 2582907 2582907 C T snp 3218.75 0/1 99 242 98 144 0.6 exonic rs77213198 BRAT1 AR nonsynonymous SNV NM_152743 exon6 c.G854A p.R285Q 0.0924521 0.2728 0.007227 0.0494 0.2778 1 T 0.0 P -1.048 T 0.0 T 0.001 T Pathogenic 7_2586817_T->G 7 2586817 2586817 T G snp 148.77 0/1 99 15 8 7 0.47 intronic rs12666641 BRAT1 AR NM_152743 exon12 c.9255-140T>G 0.0960463 0.2817 Uncertain 7_2587122_T->C 7 2587122 2587122 T C snp 935.77 0/1 99 53 20 33 0.62 intronic rs2164688 BRAT1 AR NM_152743 exon12 c.9410+10T>C 0.463658 0.3661 0.450792 0.3911 0.3628 Uncertain 7_2587150_C->T 7 2587150 2587150 C T snp 566.77 0/1 99 31 12 19 0.61 intronic rs6942871 BRAT1 AR NM_152743 exon12 c.9410+38C>T 0.167332 0.2817 0.082962 0.0716 0.2782 Uncertain 7_2598757_T->C 7 2598757 2598757 T C snp 388.77 0/1 99 34 16 18 0.53 UTR5 rs6963930 IQCE AU 0.478435 0.4167 Uncertain 7_2598908_T->C 7 2598908 2598908 T C snp 390.77 0/1 99 33 15 18 0.55 intronic rs34580685 IQCE AU NM_001287500 exon1 c.36+57T>C 0.448682 0.381 Uncertain 7_2604767_-->GT 7 2604767 2604767 - GT indel 1000.73 0/1 99 82 44 38 0.46 intronic rs558760800 IQCE AU NM_001287499 exon2 c.7934-1982insGT 0.105032 0.2302 Uncertain 7_2604876_T->C 7 2604876 2604876 T C snp 756.77 0/1 99 90 54 36 0.4 intronic rs7811250 IQCE AU NM_001287499 exon2 c.7934-1873T>C 0.159545 0.2956 Uncertain 7_2611878_T->C 7 2611878 2611878 T C snp 6983.77 1/1 99 246 1 245 1.0 exonic rs2917751 IQCE AU synonymous SNV NM_152558 exon5 c.T312C p.T104T 0.661342 0.5159 0.722858 0.7299 0.5051 Uncertain 7_2612294_T->A 7 2612294 2612294 T A snp 1721.77 1/1 99 60 0 60 1.0 intronic rs2969042 IQCE AU NM_001287500 exon4 c.13145+334T>A 0.258786 0.3373 Uncertain 7_2612295_C->A 7 2612295 2612295 C A snp 1752.77 1/1 99 60 0 60 1.0 intronic rs2969043 IQCE AU NM_001287500 exon4 c.13145+335C>A 0.258586 0.3373 Uncertain 7_2613042_G->C 7 2613042 2613042 G C snp 1971.77 1/1 99 66 0 66 1.0 intronic rs2304540 IQCE AU NM_001287500 exon5 c.14236-9G>C 0.693291 0.4891 0.761006 0.7379 0.4828 Uncertain 7_2619363_-->TC 7 2619363 2619363 - TC indel 2831.73 ./1 99 57 0 57 1.0 intronic IQCE AU NM_001287500 exon7 c.19345+1203insTC Uncertain 7_2619363_-->TGTC 7 2619363 2619363 - TGTC indel 2831.73 ./1 99 57 0 57 1.0 intronic rs200858854 IQCE AU NM_001287500 exon7 c.19345+1203insTGTC Uncertain 7_2621567_T->C 7 2621567 2621567 T C snp 54.74 1/1 6 2 0 2 1.0 intronic rs7798469 IQCE AU NM_001287500 exon8 c.23398-646T>C 0.697684 0.4921 Uncertain 7_2622101_C->T 7 2622101 2622101 C T snp 1000.77 1/1 75 32 0 32 1.0 intronic rs1550204 IQCE AU NM_001287500 exon8 c.23398-112C>T 0.245208 0.3323 Uncertain 7_2625658_C->- 7 2625658 2625658 C - indel 371.74 1/1 27 9 0 9 1.0 intronic rs5881929 IQCE AU NM_001287500 exon11 c.27026-183delC 0.563698 0.4911 Uncertain 7_2625838_C->T 7 2625838 2625838 C T snp 2155.77 1/1 99 77 0 77 1.0 splicing rs2257285 IQCE AU NM_001287500 exon11 c.27026-3C>T 0.244609 0.3323 0.152242 0.2123 0.3404 Pathogenic 7_2626039_CAGGGAATGG->- 7 2626039 2626048 CAGGGAATGG - indel 671.77 1/1 21 13 0 13 1.0 intronic rs11277394 IQCE AU NM_001287500 exon11 c.27190+34_27190+43delCAGGGAATGG 0.729433 0.4921 0.778253 0.7336 0.4744 Uncertain 7_2627310_T->A 7 2627310 2627310 T A snp 1661.77 1/1 99 51 0 51 1.0 intronic rs2917733 IQCE AU NM_001287500 exon12 c.28640-145T>A 0.728834 0.4921 Uncertain 7_2632477_A->G 7 2632477 2632477 A G snp 262.8 1/1 21 7 0 7 1.0 intronic rs2917730 IQCE AU NM_001287500 exon14 c.33840-178A>G 0.727436 0.4643 Uncertain 7_2686761_G->C 7 2686761 2686761 G C snp 996.77 0/1 99 80 34 46 0.57 intronic rs3801079 TTYH3 AU NM_025250 exon3 c.14986-14G>C 0.665136 0.6825 0.614575 0.6349 0.7155 Uncertain 7_2689472_A->C 7 2689472 2689472 A C snp 1307.77 0/1 99 132 76 56 0.42 intronic rs3801077 TTYH3 AU NM_025250 exon7 c.17757-74A>C 0.634585 0.6825 Uncertain 7_2699687_-->G 7 2699687 2699687 - G indel 7359.73 1/1 99 190 0 190 1.0 intronic rs397805547 TTYH3 AU NM_025250 exon13 c.26860+1038insG 0.9994 0.9979 Uncertain 7_2740015_T->G 7 2740015 2740015 T G snp 83.28 1/1 9 3 0 3 1.0 UTR5 rs798473 AMZ1 AU 0.622404 0.752 Uncertain 7_2748451_C->G 7 2748451 2748451 C G snp 105.77 0/1 99 10 6 4 0.4 intronic rs77345769 AMZ1 AU NM_133463 exon4 c.8265+101C>G 0.254393 0.5675 Uncertain 7_2748758_G->C 7 2748758 2748758 G C snp 1539.77 0/1 99 134 66 68 0.51 exonic rs59438885 AMZ1 AU synonymous SNV NM_133463 exon5 c.G651C p.S217S 0.25639 0.5754 0.140702 0.1796 0.5684 Uncertain 7_2748803_C->T 7 2748803 2748803 C T snp 1108.77 0/1 99 88 41 47 0.53 exonic rs58726146 AMZ1 AU synonymous SNV NM_133463 exon5 c.C696T p.D232D 0.289736 0.5714 0.181013 0.1987 0.5669 Uncertain 7_2748901_G->C 7 2748901 2748901 G C snp 286.77 0/1 99 15 4 11 0.73 intronic rs58748470 AMZ1 AU NM_133463 exon5 c.8793+23G>C 0.292133 0.5714 0.177245 0.1943 0.5547 Uncertain 7_2752152_G->A 7 2752152 2752152 G A snp 1310.77 0/1 99 107 48 59 0.55 exonic rs798565 AMZ1 AU synonymous SNV NM_133463 exon7 c.G1137A p.S379S 0.179712 0.2004 0.221222 0.2549 0.1861 Uncertain 7_2773035_-->AT 7 2773035 2773035 - AT indel 8066.73 1/1 99 147 0 147 1.0 intronic rs34004158 GNA12 AU NM_001282441 exon2 c.2270-49insAT 0.740615 0.9365 0.721885 0.7685 0.9109 Uncertain 7_2946338_G->A 7 2946338 2946338 G A snp 2432.77 0/1 99 223 115 108 0.48 exonic rs117428786 CARD11 AR,AD synonymous SNV NM_032415 exon25 c.C3399T p.R1133R 0.0113818 0.0546 0.0043 0.0569 ID=COSM3768340;OCCURENCE=1(liver) Uncertain 7_2946461_T->C 7 2946461 2946461 T C snp 2650.77 1/1 99 89 0 89 1.0 exonic rs1124581 CARD11 AR,AD synonymous SNV NM_032415 exon25 c.A3276G p.R1092R 0.596446 0.6508 0.546594 0.5163 0.6473 ID=COSM3762618;OCCURENCE=2(large_intestine) Uncertain 7_2946552_C->A 7 2946552 2946552 C A snp 117.03 1/1 12 4 0 4 1.0 intronic rs6946549 CARD11 AR,AD NM_032415 exon1 c.205+76C>A 0.249201 0.3433 Uncertain 7_2954801_T->C 7 2954801 2954801 T C snp 1644.77 1/1 99 46 0 46 1.0 intronic rs1182157 CARD11 AR,AD NM_032415 exon5 c.8599-69T>C 0.998403 1 Uncertain 7_2955097_C->T 7 2955097 2955097 C T snp 866.77 0/1 99 98 60 38 0.39 intronic rs2301920 CARD11 AR,AD NM_032415 exon5 c.8735+91C>T 0.400759 0.6042 Uncertain 7_2957005_T->C 7 2957005 2957005 T C snp 142.77 0/1 99 17 11 6 0.35 exonic rs3735124 CARD11 AR,AD synonymous SNV NM_032415 exon20 c.A2622G p.P874P 0.463059 0.6101 0.316979 0.3154 0.6195 Uncertain 7_2962241_G->A 7 2962241 2962241 G A snp 524.77 0/1 99 59 33 26 0.44 intronic rs3735130 CARD11 AR,AD NM_032415 exon9 c.15996-26G>A 0.244209 0.4028 0.166154 0.1677 0.4097 Uncertain 7_2962753_G->A 7 2962753 2962753 G A snp 438.77 0/1 99 43 24 19 0.44 intronic rs2527509 CARD11 AR,AD NM_032415 exon10 c.16494-12G>A 0.505391 0.3849 0.634642 0.6795 0.3952 Uncertain 7_2968195_G->A 7 2968195 2968195 G A snp 869.77 0/1 99 69 37 32 0.46 intronic rs117314280 CARD11 AR,AD NM_032415 exon13 c.21960-36G>A 0.0335463 0.0645 0.019068 0.0279 0.0771 Uncertain 7_2968361_G->A 7 2968361 2968361 G A snp 2148.77 0/1 99 187 94 93 0.5 intronic rs2527506 CARD11 AR,AD NM_032415 exon13 c.22061+29G>A 0.230631 0.2232 0.240966 0.2411 0.2406 Uncertain 7_2968486_G->C 7 2968486 2968486 G C snp 237.77 0/1 99 22 14 8 0.36 intronic rs1183431 CARD11 AR,AD NM_032415 exon13 c.22061+154G>C 0.566693 0.4296 Uncertain 7_2985362_AC->- 7 2985362 2985363 AC - indel 764.73 1/1 66 22 0 22 1.0 intronic rs3839716 CARD11 AR,AD NM_032415 exon22 c.39181-90_39181-89delAC 0.000998403 Uncertain 7_3179968_T->G 7 3179968 3179968 T G snp 3913.77 1/1 99 148 0 148 1.0 downstream rs7779230 LOC100129603 AU 0.785743 0.9534 0.8000 0.9424 Uncertain 7_3179973_G->C 7 3179973 3179973 G C snp 3878.77 1/1 99 146 0 146 1.0 downstream rs7791857 LOC100129603 AU 0.829673 0.9544 0.8344 0.9424 Uncertain 7_3179991_T->C 7 3179991 3179991 T C snp 3336.77 1/1 99 126 0 126 1.0 downstream rs7779245 LOC100129603 AU 0.809505 0.9524 Uncertain 7_3180657_C->T 7 3180657 3180657 C T snp 3540.77 1/1 99 126 0 126 1.0 ncRNA_exonic rs6964682 LOC100129603 AU 0.748203 0.9534 0.7913 0.9424 Uncertain 7_3187085_T->A 7 3187085 3187085 T A snp 334.77 0/1 99 17 7 10 0.59 ncRNA_intronic rs6954885 LOC100129603 AU 0.271765 0.256 Uncertain 7_3188513_C->G 7 3188513 3188513 C G snp 46.77 0/1 33 3 1 2 0.67 ncRNA_intronic rs7810868 LOC100129603 AU 0.590855 0.7103 Uncertain 7_3188549_T->C 7 3188549 3188549 T C snp 47.77 0/1 33 4 1 3 0.75 ncRNA_intronic rs10257432 LOC100129603 AU 0.563498 0.7103 Uncertain 7_3188576_T->C 7 3188576 3188576 T C snp 43.77 0/1 72 6 3 3 0.5 ncRNA_intronic rs10257447 LOC100129603 AU 0.563498 0.7103 0.6137 0.6839 Uncertain 7_3188712_A->C 7 3188712 3188712 A C snp 207.77 0/1 99 18 7 11 0.61 ncRNA_intronic rs10254519 LOC100129603 AU 0.563498 0.7103 0.6213 0.6762 Uncertain 7_3188738_G->C 7 3188738 3188738 G C snp 162.77 0/1 99 15 6 9 0.6 ncRNA_intronic rs34925290 LOC100129603 AU 0.492013 0.7093 0.5382 0.6770 Uncertain 7_3197867_T->C 7 3197867 3197867 T C snp 416.77 0/1 99 40 19 21 0.53 ncRNA_exonic rs4634530 LOC100129603 AU 0.448283 0.0982 0.4670 0.0851 Uncertain 7_3205580_G->A 7 3205580 3205580 G A snp 109.77 0/1 99 15 10 5 0.33 intergenic rs34343308 LOC100129603 AU 0.0788738 0.0347 Uncertain 7_3205705_T->G 7 3205705 3205705 T G snp 1155.77 1/1 81 47 0 47 1.0 intergenic rs10951088 LOC100129603 AU 0.871006 0.9593 0.8713 0.9621 Uncertain 7_3205763_A->C 7 3205763 3205763 A C snp 411.77 0/1 99 47 25 22 0.47 intergenic rs10951089 LOC100129603 AU 0.640775 0.6111 0.5440 0.5 Uncertain 7_3341390_T->C 7 3341390 3341390 T C snp 190.9 1/1 15 9 0 9 1.0 exonic rs10228086 SDK1 AU nonsynonymous SNV NM_152744 exon1 c.T172C p.S58P 0.772764 0.5556 0 . 0.34 T 0.0 P -0.943 T 0.0 T 0.0 T Pathogenic 7_3341615_G->A 7 3341615 3341615 G A snp 59.74 1/1 6 3 0 3 1.0 intronic rs10238520 SDK1 AU NM_152744 exon1 c.298+99G>A 0.411142 0.4226 Uncertain 7_3678514_A->G 7 3678514 3678514 A G snp 695.77 1/1 51 21 0 21 1.0 intronic rs3817615 SDK1 AU NM_152744 exon3 c.337417-121A>G 0.372204 0.3581 Uncertain 7_3861353_C->G 7 3861353 3861353 C G snp 114.77 0/1 66 7 2 5 0.71 intronic rs6943646 SDK1 AU NM_152744 exon5 c.519997+138C>G 0.159944 0.0764 Uncertain 7_4171814_A->G 7 4171814 4171814 A G snp 5810.77 1/1 99 185 0 185 1.0 intronic rs35849025 SDK1 AU NM_152744 exon28 c.830738-142A>G 0.254593 0.7351 Uncertain 7_4185592_A->G 7 4185592 4185592 A G snp 1753.77 1/1 99 61 0 61 1.0 intronic rs608271 SDK1 AU NM_152744 exon29 c.844330+44A>G 0.773363 0.881 0.783209 0.7936 0.8663 Uncertain 7_4185685_A->G 7 4185685 4185685 A G snp 341.78 1/1 27 10 0 10 1.0 intronic rs663486 SDK1 AU NM_152744 exon29 c.844330+137A>G 0.79972 0.7292 Uncertain 7_4185702_T->C 7 4185702 4185702 T C snp 99.28 1/1 9 3 0 3 1.0 intronic rs663466 SDK1 AU NM_152744 exon29 c.844330+154T>C 0.808706 0.7718 Uncertain 7_4189075_G->C 7 4189075 4189075 G C snp 4661.77 1/1 99 184 0 184 1.0 exonic rs659182 SDK1 AU synonymous SNV NM_001079653 exon4 c.G66C p.A22A 0.786542 0.7817 0.772951 0.7590 0.7597 Uncertain 7_4189123_G->A 7 4189123 4189123 G A snp 3741.77 1/1 99 136 0 136 1.0 intronic rs4720177 SDK1 AU NM_001079653 exon4 c.86+28G>A 0.500998 0.7183 0.480713 0.5864 0.7263 Uncertain 7_4213749_T->A 7 4213749 4213749 T A snp 1190.77 1/1 87 37 0 37 1.0 intronic rs4723444 SDK1 AU NM_001079653 exon7 c.24844-104T>A 0.516773 0.7778 Uncertain 7_4213877_T->C 7 4213877 4213877 T C snp 2686.77 1/1 99 97 0 97 1.0 exonic rs601424 SDK1 AU synonymous SNV NM_001079653 exon7 c.T285C p.N95N 0.670727 0.7629 0.638936 0.6836 0.7563 Uncertain 7_4213940_T->C 7 4213940 4213940 T C snp 2729.77 1/1 99 98 0 98 1.0 exonic rs671756 SDK1 AU synonymous SNV NM_001079653 exon7 c.T348C p.T116T 0.665735 0.7659 0.631939 0.6817 0.7561 Uncertain 7_4213975_A->G 7 4213975 4213975 A G snp 1964.77 1/1 99 70 0 70 1.0 exonic rs671694 SDK1 AU nonsynonymous SNV NM_001079653 exon7 c.A383G p.H128R 0.799321 0.7619 0.786637 0.7525 0.7565 0.81 T 0.000 P -0.963 T 0.0 T 0.001 T Pathogenic 7_4214041_C->T 7 4214041 4214041 C T snp 884.77 1/1 66 26 0 26 1.0 intronic rs4723445 SDK1 AU NM_001079653 exon7 c.24980+52C>T 0.564297 0.7649 0.507288 0.5796 0.7540 Uncertain 7_4214046_T->C 7 4214046 4214046 T C snp 737.77 1/1 54 22 0 22 1.0 intronic rs600537 SDK1 AU NM_001079653 exon7 c.24980+57T>C 0.648962 0.7649 Uncertain 7_4215298_T->C 7 4215298 4215298 T C snp 5665.77 1/1 99 196 0 196 1.0 intronic rs4720185 SDK1 AU NM_001079653 exon8 c.26397-108T>C 0.549321 0.6895 Uncertain 7_4217969_T->A 7 4217969 4217969 T A snp 710.77 1/1 54 20 1 19 0.95 intronic rs649494 SDK1 AU NM_001079653 exon9 c.29107-147T>A 0.593051 0.7083 Uncertain 7_4304727_A->G 7 4304727 4304727 A G snp 1890.77 1/1 99 66 0 66 1.0 intronic rs10270413 SDK1 AU NM_001079653 exon19 c.115746-28A>G 0.692692 0.8919 0.641428 0.6920 0.8617 Uncertain 7_4490854_C->T 7 4490854 4490854 C T snp 944.77 0/1 99 112 67 45 0.4 intergenic rs314605 SDK1 AU 0.790535 0.7649 0.865539 0.8456 0.7195 Uncertain 7_4490934_A->G 7 4490934 4490934 A G snp 499.77 0/1 99 82 55 27 0.33 intergenic rs442775 SDK1 AU 0.354633 0.4812 Uncertain 7_4490935_C->T 7 4490935 4490935 C T snp 527.77 0/1 99 82 54 28 0.34 intergenic rs369198 SDK1 AU 0.790335 0.7649 Uncertain 7_4714912_C->T 7 4714912 4714912 C T snp 2659.77 0/1 99 231 113 118 0.51 intergenic rs28631893 SDK1 AU 0.318291 0.2887 0.2731 0.2727 Uncertain 7_4777071_GT->- 7 4777071 4777072 GT - indel 1243.73 0/1 99 72 32 40 0.56 intronic rs77360178 FOXK1 AU NM_001037165 exon2 c.58529-3397_58529-3396delGT Uncertain 7_4777161_A->G 7 4777161 4777161 A G snp 40.77 0/1 69 5 3 2 0.4 intronic rs10262715 FOXK1 AU NM_001037165 exon2 c.58529-3307A>G 0.783746 0.8482 Uncertain 7_4780514_G->T 7 4780514 4780514 G T snp 3127.77 0/1 99 250 119 131 0.52 exonic rs3087749 FOXK1 AU synonymous SNV NM_001037165 exon2 c.G606T p.T202T 0.567891 0.8502 0.428802 0.5391 0.8307 Uncertain 7_4802029_T->G 7 4802029 4802029 T G snp 425.77 1/1 33 16 0 16 1.0 exonic rs6976790 FOXK1 AU synonymous SNV NM_001037165 exon9 c.T2136G p.G712G 0.988818 1 0.981638 0.9876 1 0.095 P -1.023 T Likely benign 7_4839163_A->C 7 4839163 4839163 A C snp 2997.77 0/1 99 249 118 131 0.53 intronic rs3736241 RADIL AU NM_018059 exon1 c.106+49A>C 0.422923 0.1736 0.379336 0.3214 0.1964 Uncertain 7_4841470_T->C 7 4841470 4841470 T C snp 2617.77 1/1 99 100 1 99 0.99 exonic rs414035 RADIL AU nonsynonymous SNV NM_018059 exon12 c.A2656G p.S886G 0.996406 1 0.994708 0.9946 1 0.61 T 0.000 P -0.966 T 0.0 T 0.001 T Pathogenic 7_4876334_C->T 7 4876334 4876334 C T snp 907.77 0/1 99 72 35 37 0.51 intronic rs145447088 RADIL AU NM_018059 exon13 c.37228+98C>T 0.00978435 0.0456 Uncertain 7_4946973_A->G 7 4946973 4946973 A G snp 377.77 1/1 30 12 0 12 1.0 UTR3 rs10951715 MMD2 AU 0.798323 0.7748 Uncertain 7_4959789_G->A 7 4959789 4959789 G A snp 2189.77 1/1 99 77 0 77 1.0 intronic rs932060 MMD2 AU NM_001100600 exon5 c.12775-12G>A 0.441494 0.2996 0.450915 0.4354 0.3799 Uncertain 7_4959807_G->A 7 4959807 4959807 G A snp 2498.77 1/1 99 99 0 99 1.0 exonic rs932061 MMD2 AU synonymous SNV NM_001100600 exon3 c.C285T p.H95H 0.441693 0.2996 0.457605 0.4594 0.4135 Uncertain 7_5023420_A->G 7 5023420 5023420 A G snp 220.84 1/1 18 36 15 21 0.58 ncRNA_intronic rs6965043 RNF216P1 AU 0.628195 0.6329 Uncertain 7_5024540_G->A 7 5024540 5024540 G A snp 749.77 0/1 99 59 34 25 0.42 ncRNA_splicing rs9689983 RNF216P1 AU 0.0634984 0.1071 Uncertain 7_5026171_A->- 7 5026171 5026171 A - indel 708.73 1/1 60 20 0 20 1.0 ncRNA_intronic rs398003493 RNF216P1 AU 0.860623 0.9891 Uncertain 7_5026348_C->T 7 5026348 5026348 C T snp 603.77 1/1 45 22 0 22 1.0 ncRNA_intronic rs12671595 RNF216P1 AU 0.181709 0.256 Uncertain 7_5103244_A->G 7 5103244 5103244 A G snp 257.77 0/1 99 19 10 9 0.47 intronic rs369934466 RBAK AU NM_001204456 exon6 c.15618-81A>G Uncertain 7_5105133_C->T 7 5105133 5105133 C T snp 910.77 0/1 99 93 57 36 0.39 exonic rs12334144 RBAK AU synonymous SNV NM_021163 exon5 c.C2046T p.N682N 0.575879 0.5526 0.572362 0.5211 0.5850 Uncertain 7_5112108_G->T 7 5112108 5112108 G T snp 1020.77 0/1 99 78 33 45 0.58 ncRNA_exonic rs6862 RBAKDN AU 0.287141 0.1776 0.337849 0.3662 0.1886 0.47 T -0.991 T 0.903 T 0.632 P Uncertain 7_5112554_A->C 7 5112554 5112554 A C snp 336.77 0/1 99 22 11 11 0.5 ncRNA_exonic rs1130329 RBAKDN AU 0.371006 0.2887 0.360406 0.3536 0.3338 0.01 T -0.992 T 0.223 T 0.026 T Uncertain 7_5161512_G->T 7 5161512 5161512 G T snp 1535.77 1/1 99 50 0 50 1.0 ncRNA_exonic rs62441979 ZNF890P AU 0.819289 0.7411 0.7354 0.7349 Uncertain 7_5161640_G->C 7 5161640 5161640 G C snp 919.77 0/1 99 184 119 65 0.35 ncRNA_exonic rs62441986 ZNF890P AU 0.319289 0.3403 0.3969 0.3827 Uncertain 7_5161859_A->- 7 5161859 5161859 A - indel 506.27 0/1 1 30 4 26 0.87 ncRNA_splicing rs11289360 ZNF890P AU 0.4747 0.5270 Uncertain 7_5166400_G->A 7 5166400 5166400 G A snp 70.77 0/1 99 13 8 5 0.38 ncRNA_intronic rs73318773 ZNF890P AU 0.387979 0.5704 Uncertain 7_5166500_A->G 7 5166500 5166500 A G snp 766.77 0/1 99 57 24 33 0.58 ncRNA_exonic rs112252777 ZNF890P AU 0.392372 0.5704 0.3634 0.6176 Uncertain 7_5167160_C->A 7 5167160 5167160 C A snp 77.77 0/1 99 6 3 3 0.5 ncRNA_intronic rs9655048 ZNF890P AU 0.474441 0.5714 Uncertain 7_5167408_G->A 7 5167408 5167408 G A snp 557.77 0/1 99 60 39 21 0.35 ncRNA_intronic rs888584 ZNF890P AU 0.354034 0.5694 0.4593 0.6018 Uncertain 7_5172052_G->T 7 5172052 5172052 G T snp 131.77 0/1 99 25 18 7 0.28 ncRNA_intronic rs113343750 ZNF890P AU 0.346645 0.1756 0.0432 0.0798 Uncertain 7_5172088_A->G 7 5172088 5172088 A G snp 156.77 0/1 99 42 33 9 0.21 ncRNA_exonic rs80233906 ZNF890P AU 0.340256 0.1716 0.0537 0.0947 Uncertain 7_5172096_T->C 7 5172096 5172096 T C snp 153.77 0/1 99 42 33 9 0.21 ncRNA_exonic rs147708291 ZNF890P AU 0.339257 0.1706 Uncertain 7_5172098_C->T 7 5172098 5172098 C T snp 153.77 0/1 99 42 33 9 0.21 ncRNA_exonic rs149016496 ZNF890P AU 0.339257 0.1706 Uncertain 7_5172099_T->G 7 5172099 5172099 T G snp 156.77 0/1 99 42 33 9 0.21 ncRNA_exonic rs141199192 ZNF890P AU 0.339257 0.1706 0 0 Uncertain 7_5172102_A->G 7 5172102 5172102 A G snp 153.77 0/1 99 43 34 9 0.21 ncRNA_exonic rs77898154 ZNF890P AU 0.343251 0.1716 0.0568 0.0895 Uncertain 7_5172115_A->G 7 5172115 5172115 A G snp 228.77 0/1 99 47 35 12 0.26 ncRNA_exonic rs73057805 ZNF890P AU 0.383586 0.2242 0.0755 0.0990 Uncertain 7_5172176_T->G 7 5172176 5172176 T G snp 330.77 0/1 99 46 29 17 0.37 ncRNA_intronic rs67170096 ZNF890P AU 0.378994 0.2173 0.0933 0.1012 Uncertain 7_5172208_C->T 7 5172208 5172208 C T snp 400.77 0/1 99 45 28 17 0.38 ncRNA_intronic rs74491186 ZNF890P AU 0.3748 0.2163 Uncertain 7_5172214_CTCCCA->- 7 5172214 5172219 CTCCCA - indel 1267.73 0/1 99 43 27 16 0.37 ncRNA_intronic rs72125963 ZNF890P AU 0.374201 0.2153 Uncertain 7_5172223_G->A 7 5172223 5172223 G A snp 367.77 0/1 99 39 24 15 0.38 ncRNA_intronic rs77639783 ZNF890P AU 0.374401 0.2163 Uncertain 7_5172282_A->G 7 5172282 5172282 A G snp 310.77 0/1 99 21 8 13 0.62 ncRNA_intronic rs73057807 ZNF890P AU 0.383387 0.2222 Uncertain 7_5172295_A->G 7 5172295 5172295 A G snp 278.77 0/1 99 19 7 12 0.63 ncRNA_intronic rs73057808 ZNF890P AU 0.383387 0.2222 Uncertain 7_5172316_T->G 7 5172316 5172316 T G snp 239.77 0/1 60 12 3 9 0.75 ncRNA_intronic rs66755282 ZNF890P AU 0.383786 0.2222 Uncertain 7_5232809_T->G 7 5232809 5232809 T G snp 97.77 0/1 99 7 3 4 0.57 intergenic rs139158009 ZNF890P AU 0.00758786 0.0347 0.000231 0.0041 0.0476 Uncertain 7_5254227_C->G 7 5254227 5254227 C G snp 7348.77 1/1 99 250 0 250 1.0 exonic rs4587243 WIPI2 AU synonymous SNV NM_001033520 exon1 c.C96G p.V32V 0.994409 1 0.988774 0.9866 1 Uncertain 7_5257490_T->C 7 5257490 5257490 T C snp 1321.77 1/1 96 44 0 44 1.0 intronic rs7791896 WIPI2 AU NM_001278299 exon7 c.1308-62T>C 0.960463 0.9603 Uncertain 7_5262151_C->T 7 5262151 5262151 C T snp 463.77 0/1 99 28 10 18 0.64 intronic rs62441068 WIPI2 AU NM_001278299 exon8 c.5988-81C>T 0.324681 0.2401 Uncertain 7_5262385_G->A 7 5262385 5262385 G A snp 1384.77 0/1 99 112 53 59 0.53 intronic rs4720537 WIPI2 AU NM_001278299 exon8 c.6059+82G>A 0.35603 0.4117 Uncertain 7_5267524_C->T 7 5267524 5267524 C T snp 76.77 0/1 99 10 5 5 0.5 intronic rs4720539 WIPI2 AU NM_001278299 exon11 c.11490-210C>T 0.497005 0.4137 Uncertain 7_5269424_A->C 7 5269424 5269424 A C snp 805.77 1/1 60 26 0 26 1.0 intronic rs7785898 WIPI2 AU NM_001278299 exon12 c.13125+55A>C 0.91873 0.9603 Uncertain 7_5331307_A->G 7 5331307 5331307 A G snp 145.03 1/1 12 6 0 6 1.0 intronic rs12667188 SLC29A4 AU NM_001040661 exon5 c.3876-16A>G 1 1 0.999691 0.9999 1 Uncertain 7_5334469_G->T 7 5334469 5334469 G T snp 454.77 0/1 99 58 36 22 0.38 intronic rs4724524 SLC29A4 AU NM_001040661 exon6 c.7043-21G>T 0.683906 0.7381 0.5937 0.7606 Uncertain 7_5334472_-->CT 7 5334472 5334472 - CT indel 708.73 0/1 99 59 36 23 0.39 intronic rs10623123 SLC29A4 AU NM_001040661 exon6 c.7043-18insCT 0.611422 0.6835 0.531650 0.4848 0.5890 Uncertain 7_5334582_C->T 7 5334582 5334582 C T snp 300.77 0/1 99 53 32 21 0.4 intronic rs59119551 SLC29A4 AU NM_001040661 exon6 c.7118+17C>T 0.302117 0.5109 0.146154 0.2654 0.5508 Uncertain 7_5336856_CCCTTCTCTGTC->- 7 5336856 5336867 CCCTTCTCTGTC - indel 5068.73 1/1 99 51 0 51 1.0 intronic rs137903684 SLC29A4 AU NM_001040661 exon7 c.9382+27_9382+38delCCCTTCTCTGTC 0.620208 0.6389 0.463112 0.5431 0.6459 Uncertain 7_5336885_C->T 7 5336885 5336885 C T snp 1126.77 1/1 81 38 0 38 1.0 intronic rs13244318 SLC29A4 AU NM_001040661 exon7 c.9382+56C>T 0.46865 0.6181 Uncertain 7_5338714_T->C 7 5338714 5338714 T C snp 427.77 0/1 99 44 23 21 0.48 exonic rs6950111 SLC29A4 AU synonymous SNV NM_153247 exon8 c.T978C p.D326D 0.288938 0.12 0.375521 0.2994 0.1186 Uncertain 7_5338770_A->G 7 5338770 5338770 A G snp 462.77 0/1 99 53 30 23 0.43 intronic rs6946155 SLC29A4 AU NM_001040661 exon8 c.11310+13A>G 0.164936 0.1022 0.193843 0.2033 0.1025 Uncertain 7_5340002_C->G 7 5340002 5340002 C G snp 49.77 0/1 72 6 2 4 0.67 intronic rs34551990 SLC29A4 AU NM_001040661 exon10 c.12605-50C>G 0.17512 0.0903 0.245142 0.2177 0.0924 Uncertain 7_5347295_A->G 7 5347295 5347295 A G snp 54.74 1/1 6 2 0 2 1.0 UTR3 rs7794563 TNRC18 AU 0.901358 0.8423 0.8908 0.8831 Uncertain 7_5347749_G->A 7 5347749 5347749 G A snp 152.77 0/1 99 11 4 7 0.64 exonic rs9639976 TNRC18 AU synonymous SNV NM_001080495 exon30 c.C8895T p.P2965P 0.128994 0.1151 0.195943 0.2178 0.1775 Uncertain 7_5347914_G->A 7 5347914 5347914 G A snp 460.77 0/1 99 61 37 24 0.39 exonic rs11554710 TNRC18 AU synonymous SNV NM_001080495 exon30 c.C8730T p.D2910D 0.103035 0.0982 0.135930 0.1662 0.1141 Uncertain 7_5347976_-->G 7 5347976 5347976 - G indel 676.73 0/1 99 38 10 28 0.74 intronic rs148493175 TNRC18 AU NM_001080495 exon1 c.207+33insG 0.051573 0.0364 0.2063 Uncertain 7_5369407_TAGCTT->- 7 5369407 5369412 TAGCTT - indel 571.77 1/1 21 7 0 7 1.0 intronic rs34624980 TNRC18 AU NM_001080495 exon12 c.24516-2845_24516-2840delTAGCTT 0.868211 0.9851 Uncertain 7_5369522_G->C 7 5369522 5369522 G C snp 1487.77 0/1 99 126 61 65 0.52 intronic rs73051980 TNRC18 AU NM_001080495 exon12 c.24516-2730G>C 0.0932508 0.0526 0.1173 0.0556 Uncertain 7_5372406_G->T 7 5372406 5372406 G T snp 371.77 0/1 99 43 22 21 0.49 exonic rs13238738 TNRC18 AU synonymous SNV NM_001080495 exon19 c.C5994A p.R1998R 0.528355 0.7063 0.658190 0.5213 0.7778 1.000 P -0.979 T Likely benign 7_5396715_T->C 7 5396715 5396715 T C snp 2433.77 0/1 99 245 141 104 0.42 exonic rs35508364 TNRC18 AU nonsynonymous SNV NM_001080495 exon16 c.A5026G p.N1676D 0.372404 0.1597 0.472186 0.4308 0.1766 0.83 T 0.000 P -0.929 T 0.0 T 0.0 T Pathogenic 7_5396955_A->G 7 5396955 5396955 A G snp 497.77 0/1 99 53 30 23 0.43 intronic rs7805732 TNRC18 AU NM_001080495 exon15 c.49171+48A>G 0.599641 0.2917 0.709058 0.6364 0.2903 Uncertain 7_5399044_C->G 7 5399044 5399044 C G snp 1614.77 0/1 99 107 44 63 0.59 exonic rs12531309 TNRC18 AU synonymous SNV NM_001080495 exon15 c.G4818C p.S1606S 0.255192 0.2808 0.276710 0.2843 0.2496 Uncertain 7_5401416_A->G 7 5401416 5401416 A G snp 366.77 0/1 99 40 24 16 0.4 intronic TNRC18 AU NM_001080495 exon17 c.53617+63A>G Uncertain 7_5402606_G->A 7 5402606 5402606 G A snp 34.77 0/1 63 9 6 3 0.33 intronic rs4357206 TNRC18 AU NM_001080495 exon19 c.54720+150G>A 0.323283 0.2897 Uncertain 7_5409937_C->T 7 5409937 5409937 C T snp 301.78 1/1 24 8 0 8 1.0 intronic rs58182076 TNRC18 AU NM_001080495 exon20 c.62269-68C>T 0.480232 0.4216 Uncertain 7_5410425_G->C 7 5410425 5410425 G C snp 2180.77 1/1 99 82 0 82 1.0 exonic rs12671708 TNRC18 AU nonsynonymous SNV NM_001080495 exon11 c.C3800G p.A1267G 0.343051 0.4236 0.337056 0.4666 0.4410 0.53 T 0.0 P -0.936 T 0.0 T 0.001 T Pathogenic 7_5427652_G->A 7 5427652 5427652 G A snp 6031.77 1/1 99 239 2 237 0.99 exonic rs4720623 TNRC18 AU synonymous SNV NM_001080495 exon5 c.C1803T p.A601A 0.419728 0.1756 0.397836 0.4062 0.2641 Uncertain 7_5427720_A->G 7 5427720 5427720 A G snp 4851.77 1/1 99 161 0 161 1.0 exonic rs4724663 TNRC18 AU nonsynonymous SNV NM_001080495 exon5 c.T1735C p.S579P 0.999201 1 0.998464 0.9976 1 1 T 0.0 P -0.998 T 0.0 T 0.0 T Pathogenic 7_5434135_A->G 7 5434135 5434135 A G snp 1532.77 1/1 99 60 0 60 1.0 exonic rs4724668 TNRC18 AU synonymous SNV NM_001080495 exon3 c.T279C p.S93S 0.924321 0.998 0.837351 0.8332 0.9987 Uncertain 7_5460550_C->T 7 5460550 5460550 C T snp 3204.83 1/1 99 113 1 112 0.99 intronic rs79032618 TNRC18 AU NM_001080495 exon29 c.112954-140C>T 0.190096 0.6825 0.1390 0.6548 0 D 0.000 P -0.949 T 0.037 T 0.012 T Uncertain 7_5487423_C->G 7 5487423 5487423 C G snp 2931.77 1/1 99 108 0 108 1.0 intergenic rs72577279 TNRC18 AU 0.233826 0.5863 0.1407 0.5900 Uncertain 7_5487457_C->A 7 5487457 5487457 C A snp 1973.77 1/1 99 72 0 72 1.0 intergenic rs4724685 TNRC18 AU 0.230032 0.5823 0.1221 0.5852 Uncertain 7_5487458_T->C 7 5487458 5487458 T C snp 2123.77 1/1 99 72 0 72 1.0 intergenic rs4236392 TNRC18 AU 0.982628 0.999 0.9623 0.9978 Uncertain 7_5521219_T->C 7 5521219 5521219 T C snp 54.74 1/1 6 2 0 2 1.0 UTR3 rs10046576 FBXL18 AU 0.946286 0.9405 Uncertain 7_5528883_G->A 7 5528883 5528883 G A snp 1500.77 0/1 99 106 46 60 0.57 intronic rs4724701 FBXL18 AU NM_024963 exon2 c.9456-1978G>A 0.495807 0.7014 0.458842 0.4564 0.6765 Uncertain 7_5529085_A->G 7 5529085 5529085 A G snp 274.77 0/1 81 11 3 8 0.73 intronic rs4724702 FBXL18 AU NM_024963 exon2 c.9456-1776A>G 0.904553 0.9335 Uncertain 7_5529758_G->A 7 5529758 5529758 G A snp 2148.77 0/1 99 210 110 100 0.48 intronic rs28566736 FBXL18 AU NM_024963 exon2 c.9456-1103G>A 0.495807 0.7014 0.458988 0.4914 0.6937 0.19 T 0.0 P -0.956 T 0.616 T 0.026 P Uncertain 7_5530827_G->A 7 5530827 5530827 G A snp 2590.77 0/1 99 214 109 105 0.49 intronic rs3801057 FBXL18 AU NM_024963 exon2 c.9456-34G>A 0.519169 0.7024 0.482960 0.5370 0.7082 Uncertain 7_5540769_A->C 7 5540769 5540769 A C snp 2784.77 1/1 99 93 0 93 1.0 exonic rs6953642 FBXL18 AU synonymous SNV NM_024963 exon3 c.T1131G p.T377T 0.94389 0.9256 0.928382 0.9119 0.9222 0.274 P -1.039 T Likely benign 7_5541657_G->A 7 5541657 5541657 G A snp 1834.77 1/1 99 68 0 68 1.0 exonic rs4724704 FBXL18 AU synonymous SNV NM_024963 exon3 c.C243T p.S81S 0.706869 0.7351 0.692430 0.6854 0.7577 Uncertain 7_5541790_G->C 7 5541790 5541790 G C snp 224.84 1/1 18 6 0 6 1.0 intronic rs4724705 FBXL18 AU NM_024963 exon3 c.20257+128G>C 0.929513 0.9256 Uncertain 7_5568493_A->G 7 5568493 5568493 A G snp 509.77 1/1 39 14 0 14 1.0 intronic rs852422 ACTB AD NM_001101 exon3 c.972+143A>G 0.999201 1 Uncertain 7_5751250_G->A 7 5751250 5751250 G A snp 141.03 1/1 12 5 0 5 1.0 intronic rs3735289 RNF216 AR NM_207116 exon5 c.88901-141G>A 0.908946 0.9206 Uncertain 7_5760971_A->T 7 5760971 5760971 A T snp 971.77 1/1 72 28 0 28 1.0 intronic rs4720636 RNF216 AR NM_207116 exon9 c.98313+168A>T 0.982029 0.9752 Uncertain 7_5769405_C->A 7 5769405 5769405 C A snp 272.78 1/1 24 8 0 8 1.0 intronic rs1035331 RNF216 AR NM_207116 exon11 c.106737+178C>A 0.783546 0.9147 Uncertain 7_5770330_T->C 7 5770330 5770330 T C snp 1010.77 0/1 99 153 80 73 0.48 intronic rs35732993 RNF216 AR NM_207116 exon12 c.107855-15T>C 0.3058 0.4661 Uncertain 7_5779375_T->C 7 5779375 5779375 T C snp 2356.77 1/1 99 77 0 77 1.0 intronic rs10233615 RNF216 AR NM_207116 exon13 c.116493+392T>C 0.792532 0.9187 Uncertain 7_5800769_A->G 7 5800769 5800769 A G snp 1496.77 1/1 99 54 0 54 1.0 UTR5 rs3857756 RNF216 AR 0.964856 0.9752 Uncertain 7_5879799_A->G 7 5879799 5879799 A G snp 114.77 0/1 99 8 3 5 0.63 ncRNA_intronic rs308098 ZNF815P AU 0.559704 0.498 Uncertain 7_5880392_G->C 7 5880392 5880392 G C snp 761.77 0/1 99 63 31 32 0.51 ncRNA_exonic rs2240405 ZNF815P AU 0.157947 0.0268 Uncertain 7_5920406_T->A 7 5920406 5920406 T A snp 463.77 0/1 99 20 5 15 0.75 upstream rs10235465 OCM AU 0.5627 0.4157 Uncertain 7_5922056_T->C 7 5922056 5922056 T C snp 1494.77 0/1 99 132 69 63 0.48 intronic rs13236282 OCM AU NM_001097622 exon2 c.1603-67T>C 0.347244 0.5317 Uncertain 7_5922100_-->T 7 5922100 5922100 - T indel 4074.73 0/1 99 234 128 106 0.45 intronic rs35069590 OCM AU NM_001097622 exon2 c.1603-23insT 0.285543 0.4921 0.222125 0.3155 0.5191 Uncertain 7_5922322_C->A 7 5922322 5922322 C A snp 834.77 0/1 99 82 50 32 0.39 intronic rs41280705 OCM AU NM_001097622 exon2 c.1736+66C>A 0.0623003 0.0585 Uncertain 7_5923682_G->C 7 5923682 5923682 G C snp 616.77 0/1 99 43 20 23 0.53 intronic rs7798766 OCM AU NM_001097622 exon3 c.3110+52G>C 0.203474 0.0298 0.262239 0.1593 0.0422 Uncertain 7_5923738_A->C 7 5923738 5923738 A C snp 70.77 0/1 99 10 5 5 0.5 intronic rs3890913 OCM AU NM_001097622 exon3 c.3110+108A>C 0.722444 0.9157 Uncertain 7_5942269_C->T 7 5942269 5942269 C T snp 303.77 0/1 99 49 32 17 0.35 intronic rs71524059 CCZ1 AU NM_015622 exon6 c.3861-22C>T 0.264577 0.6419 0.1512 0.5610 Uncertain 7_5944600_C->T 7 5944600 5944600 C T snp 233.77 0/1 99 22 14 8 0.36 intronic rs2528324 CCZ1 AU NM_015622 exon7 c.6294-124C>T 0.29972 0.6875 Uncertain 7_5944844_G->C 7 5944844 5944844 G C snp 1432.77 0/1 99 174 92 82 0.47 exonic rs143367105 CCZ1 AU nonsynonymous SNV NM_015622 exon7 c.G642C p.E214D 0.0009 0.0072 0.21 T 1.000 D -0.787 T 0.988 D 0.903 D Pathogenic 7_5959485_G->A 7 5959485 5959485 G A snp 2663.77 0/1 99 250 129 121 0.48 exonic rs200812052 CCZ1 AU nonsynonymous SNV NM_015622 exon12 c.G994A p.V332I 0.2838 0.2274 0.41 T 0.0 P -1.016 T 0.001 T 0.004 T Pathogenic 7_5959661_C->T 7 5959661 5959661 C T snp 2185.77 0/1 99 198 105 93 0.47 intronic rs199977794 CCZ1 AU NM_015622 exon12 c.21167+64C>T Uncertain 7_5965103_A->C 7 5965103 5965103 A C snp 88.77 0/1 99 8 4 4 0.5 intronic rs533559663 CCZ1 AU NM_015622 exon15 c.26832-159A>C 0.333267 0.3938 Uncertain 7_5965258_T->C 7 5965258 5965258 T C snp 547.77 0/1 99 250 204 46 0.18 splicing rs201118476 CCZ1 AU NM_015622 exon15 c.26832-4T>C 0.34365 0.3621 0.281394 0.3315 0.3291 Pathogenic 7_5965334_C->T 7 5965334 5965334 C T snp 1577.77 0/1 99 234 132 102 0.44 UTR3 rs5846 CCZ1 AU 0.4028 0.4900 Uncertain 7_5965381_G->A 7 5965381 5965381 G A snp 766.77 0/1 99 117 55 62 0.53 UTR3 rs534 CCZ1 AU Uncertain 7_5965398_G->A 7 5965398 5965398 G A snp 537.77 0/1 99 84 41 43 0.51 UTR3 rs526 CCZ1 AU Uncertain 7_5968053_A->G 7 5968053 5968053 A G snp 848.77 0/1 99 166 123 43 0.26 intergenic rs61032858 CCZ1 AU 0.067294 0.2956 0.2260 Uncertain 7_5983012_A->G 7 5983012 5983012 A G snp 2252.77 1/1 99 203 24 179 0.88 intergenic rs150999559 CCZ1 AU 0.7775 0.9256 Uncertain 7_5983195_C->A 7 5983195 5983195 C A snp 880.77 1/1 66 24 0 24 1.0 intergenic rs138475267 CCZ1 AU 0.997404 0.999 Uncertain 7_5983470_G->A 7 5983470 5983470 G A snp 274.77 0/1 99 81 50 31 0.38 intergenic rs375510070 CCZ1 AU Uncertain 7_5983553_A->C 7 5983553 5983553 A C snp 2370.77 1/1 99 237 0 237 1.0 intergenic rs2711185 CCZ1 AU 0.913938 0.9762 0.8706 0.9399 1 T 1.000 P -0.983 T 0.0 T 0.0 T Uncertain 7_5998522_G->A 7 5998522 5998522 G A snp 195.77 0/1 99 79 58 21 0.27 intergenic rs541256146 CCZ1 AU 0.000599042 Uncertain 7_6006431_G->A 7 6006431 6006431 G A snp 679.77 1/1 66 49 0 49 1.0 intergenic rs2711192 CCZ1 AU 0.512979 0.7837 Uncertain 7_6013049_C->G 7 6013049 6013049 C G snp 146.77 0/1 99 102 72 30 0.29 exonic rs1802683 PMS2 AU,AR nonsynonymous SNV NM_000535 exon15 c.G2570C p.G857A 0.3702 0.4197 0.86 T 0.079 P -1.103 T 0.001 T 0.001 T CLINSIG=non-pathogenic|non-pathogenic|non-pathogenic|non-pathogenic|non-pathogenic;CLNDBN=Lynch_syndrome|not_provided|not_specified|Hereditary_cancer-predisposing_syndrome|Lynch_syndrome_I;CLNREVSTAT=exp|no_assertion_criteria_provided|criteria_provided\x2c_single_submitter|criteria_provided\x2c_single_submitter|no_assertion_criteria_provided;CLNACC=RCV000030370.3|RCV000034628.1|RCV000079109.3|RCV000130363.2|RCV000144646.1;CLNDSDB=GeneReviews:MedGen:SNOMED_CT|MedGen|MedGen|MedGen:SNOMED_CT|GeneReviews:MedGen:OMIM:Orphanet;CLNDSDBID=NBK1211:C0009405:315058005|CN221809|CN169374|C0027672:699346009|NBK1211:C2936783:120435:ORPHA144 Pathogenic 7_6022629_G->A 7 6022629 6022629 G A snp 150.77 0/1 99 86 66 20 0.23 intronic rs55954143 PMS2 AU,AR NM_000535 exon4 c.9593+7G>A 0.127995 0.0853 0.0885 0.0906 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=Lynch_syndrome|not_specified;CLNREVSTAT=exp|criteria_provided\x2c_single_submitter;CLNACC=RCV000030366.3|RCV000153747.2;CLNDSDB=GeneReviews:MedGen:SNOMED_CT|MedGen;CLNDSDBID=NBK1211:C0009405:315058005|CN169374 Uncertain 7_6026775_T->C 7 6026775 6026775 T C snp 4518.77 1/1 99 164 0 164 1.0 exonic rs2228006 PMS2 AU,AR nonsynonymous SNV NM_000535 exon11 c.A1621G p.K541E 0.883187 0.878 0.870385 0.8514 0.9238 1 T 0.0 P -0.949 T 0.0 T 0.0 T CLINSIG=non-pathogenic|non-pathogenic,non-pathogenic;CLNDBN=Lynch_syndrome|not_provided,not_specified;CLNREVSTAT=exp|criteria_provided\x2c_single_submitter,no_assertion_criteria_provided;CLNACC=RCV000030365.3|RCV000034619.2,RCV000121840.3;CLNDSDB=GeneReviews:MedGen:SNOMED_CT|MedGen,MedGen;CLNDSDBID=NBK1211:C0009405:315058005|CN221809,CN169374 ID=BM1497492;DIS=Colorectal cancer, non-polyposis;TAG=DM?;PUB=24072394 DM? Pathogenic 7_6026942_G->T 7 6026942 6026942 G T snp 1292.77 0/1 99 124 75 49 0.4 exonic rs1805323 PMS2 AU,AR nonsynonymous SNV NM_000535 exon11 c.C1454A p.T485K 0.112021 0.3373 0.033523 0.0801 0.3565 0.94 T 0.0 P -1.025 T 0.0 T 0.001 T CLINSIG=non-pathogenic|non-pathogenic|non-pathogenic|non-pathogenic;CLNDBN=not_provided|Lynch_syndrome|not_specified|Hereditary_cancer-predisposing_syndrome;CLNREVSTAT=no_assertion_criteria_provided|exp|criteria_provided\x2c_single_submitter|criteria_provided\x2c_single_submitter;CLNACC=RCV000034616.1|RCV000076810.2|RCV000079104.4|RCV000130906.2;CLNDSDB=MedGen|GeneReviews:MedGen:SNOMED_CT|MedGen|MedGen:SNOMED_CT;CLNDSDBID=CN221809|NBK1211:C0009405:315058005|CN169374|C0027672:699346009 Pathogenic 7_6035065_A->C 7 6035065 6035065 A C snp 169.77 0/1 99 29 19 10 0.34 intronic rs12534423 PMS2 AU,AR NM_000535 exon8 c.22135-99A>C 0.118011 0.3343 Uncertain 7_6035081_G->A 7 6035081 6035081 G A snp 267.77 0/1 99 43 29 14 0.33 intronic rs3815383 PMS2 AU,AR NM_000535 exon8 c.22135-83G>A 0.118011 0.3343 Uncertain 7_6036980_G->C 7 6036980 6036980 G C snp 1935.77 1/1 99 71 0 71 1.0 exonic rs1805319 PMS2 AU,AR synonymous SNV NM_000535 exon7 c.C780G p.S260S 0.83127 0.879 0.823774 0.8109 0.9219 CLINSIG=non-pathogenic,non-pathogenic|non-pathogenic|non-pathogenic;CLNDBN=Hereditary_cancer-predisposing_syndrome,Lynch_syndrome|not_specified|Hereditary_cancer-predisposing_syndrome;CLNREVSTAT=criteria_provided\x2c_single_submitter,exp|criteria_provided\x2c_single_submitter|criteria_provided\x2c_single_submitter;CLNACC=RCV000162392.1,RCV000030372.3|RCV000079112.3|RCV000131484.2;CLNDSDB=MedGen:SNOMED_CT,GeneReviews:MedGen:SNOMED_CT|MedGen|MedGen:SNOMED_CT;CLNDSDBID=C0027672:699346009,NBK1211:C0009405:315058005|CN169374|C0027672:699346009 Uncertain 7_6037058_A->- 7 6037058 6037058 A - indel 112.73 0/1 99 53 30 23 0.43 splicing rs549498051 PMS2 AU,AR NM_000535 exon9 c.24025+4delA 0.453075 0.4931 0.4422 0.4613 Pathogenic 7_6048556_G->A 7 6048556 6048556 G A snp 226.77 0/1 99 30 17 13 0.43 intronic rs3735295 PMS2 AU,AR NM_000535 exon15 c.35598-71G>A 0.227436 0.1597 0.212154 Uncertain 7_6048973_C->A 7 6048973 6048973 C A snp 151.77 0/1 64 10 3 7 0.7 UTR5 rs1062372 AIMP2 AU 0.232029 0.1607 0.241504 0.2212 0.1644 CLINSIG=non-pathogenic;CLNDBN=Lynch_syndrome;CLNREVSTAT=exp;CLNACC=RCV000076789.2;CLNDSDB=GeneReviews:MedGen:SNOMED_CT;CLNDSDBID=NBK1211:C0009405:315058005 Uncertain 7_6054987_G->A 7 6054987 6054987 G A snp 1218.77 0/1 99 76 35 41 0.54 splicing rs6979676 AIMP2 AU NM_006303 exon2 c.5989+4G>A 0.250399 0.1607 0.274258 0.2476 0.1652 Pathogenic 7_6065914_T->C 7 6065914 6065914 T C snp 2023.77 1/1 99 65 0 65 1.0 intronic rs10253000 EIF2AK1 AU NM_001134335 exon2 c.2055-444T>C 0.719848 0.8125 Uncertain 7_6066057_-->C 7 6066057 6066057 - C indel 8912.73 1/1 99 198 0 198 1.0 intronic rs34019419 EIF2AK1 AU NM_001134335 exon2 c.2055-301insC 0.677117 0.8115 0.6515 0.8313 Uncertain 7_6066450_T->C 7 6066450 6066450 T C snp 1646.77 0/1 99 162 91 71 0.44 exonic rs2640 EIF2AK1 AU nonsynonymous SNV NM_001134335 exon14 c.A1670G p.K557R 0.120807 0.3323 0.038751 0.0880 0.3543 0.2 T 1.000 P -0.915 T 0.61 T 0.258 P Pathogenic 7_6066461_T->C 7 6066461 6066461 T C snp 4290.77 1/1 99 158 0 158 1.0 exonic rs2639 EIF2AK1 AU synonymous SNV NM_001134335 exon14 c.A1659G p.P553P 0.33746 0.4425 0.278333 0.2606 0.4773 Uncertain 7_6070856_C->T 7 6070856 6070856 C T snp 557.77 1/1 42 16 0 16 1.0 intronic rs10255418 EIF2AK1 AU NM_001134335 exon4 c.4360+2193C>T 0.334265 0.4474 Uncertain 7_6071277_A->G 7 6071277 6071277 A G snp 730.77 1/1 54 21 0 21 1.0 intronic rs4724770 ANKRD61 AU NM_001271700 exon1 c.216+55A>G 0.853834 0.877 Uncertain 7_6078376_A->C 7 6078376 6078376 A C snp 1042.77 0/1 99 87 45 42 0.48 intronic rs2302331 EIF2AK1 AU NM_001134335 exon6 c.13999+74A>C 0.598442 0.4841 Uncertain 7_6078468_C->A 7 6078468 6078468 C A snp 102.77 0/1 99 16 12 4 0.25 intronic rs2302330 EIF2AK1 AU NM_001134335 exon6 c.13999+166C>A 0.198482 0.1091 Uncertain 7_6080854_A->- 7 6080854 6080854 A - indel 841.73 1/1 78 50 2 48 0.96 splicing rs34743814 EIF2AK1 AU NM_001134335 exon7 c.16547+4delA 0.597244 0.6359 0.5458 0.5816 Pathogenic 7_6084310_G->T 7 6084310 6084310 G T snp 1185.77 0/1 99 106 53 53 0.5 intronic rs511969 EIF2AK1 AU NM_001134335 exon9 c.19989+18G>T 0.582867 0.4702 0.622405 0.5637 0.5036 Uncertain 7_6086610_C->G 7 6086610 6086610 C G snp 228.77 0/1 99 12 4 8 0.67 intronic rs41282676 EIF2AK1 AU NM_001134335 exon11 c.22319-12C>G 0.125399 0.3393 0.044832 0.0896 0.3587 Uncertain 7_6088339_T->C 7 6088339 6088339 T C snp 361.77 0/1 99 25 9 16 0.64 intronic rs523254 EIF2AK1 AU NM_001134335 exon12 c.24134-98T>C 0.588658 0.4712 Uncertain 7_6088349_A->G 7 6088349 6088349 A G snp 670.77 1/1 48 28 0 28 1.0 intronic rs523276 EIF2AK1 AU NM_001134335 exon12 c.24134-88A>G 0.84984 0.875 Uncertain 7_6088420_A->G 7 6088420 6088420 A G snp 226.77 0/1 99 36 25 11 0.31 intronic rs3213665 EIF2AK1 AU NM_001134335 exon12 c.24134-17A>G 0.125998 0.3393 0.044263 0.0936 0.3599 Uncertain 7_6088533_C->T 7 6088533 6088533 C T snp 509.77 1/1 39 20 0 20 1.0 intronic rs525090 EIF2AK1 AU NM_001134335 exon12 c.24172+58C>T 0.709864 0.8095 Uncertain 7_6097658_T->G 7 6097658 6097658 T G snp 266.77 0/1 99 21 10 11 0.52 intronic rs76480166 EIF2AK1 AU NM_001134335 exon15 c.34293-938T>G 0.123003 0.3393 Uncertain 7_6097868_A->C 7 6097868 6097868 A C snp 381.77 1/1 30 12 0 12 1.0 intronic rs559842 EIF2AK1 AU NM_001134335 exon15 c.34293-728A>C 0.709864 0.8105 0.6430 0.8939 Uncertain 7_6178931_G->A 7 6178931 6178931 G A snp 632.77 0/1 99 47 25 22 0.47 intronic rs6973832 USP42 AU NM_032172 exon5 c.28061+106G>A 0.446685 0.7192 Uncertain 7_6183836_A->G 7 6183836 6183836 A G snp 809.77 0/1 99 62 29 33 0.53 intronic rs3750063 USP42 AU NM_032172 exon9 c.33063+9A>G 0.152756 0.4157 0.042205 0.0944 0.4630 Uncertain 7_6189780_T->C 7 6189780 6189780 T C snp 2640.77 0/1 99 249 133 116 0.47 exonic rs3764814 USP42 AU synonymous SNV NM_032172 exon13 c.T1953C p.L651L 0.282748 0.4276 0.166854 0.1653 0.4638 Uncertain 7_6193464_T->G 7 6193464 6193464 T G snp 290.77 0/1 99 24 13 11 0.46 exonic rs61732616 USP42 AU nonsynonymous SNV NM_032172 exon15 c.T2279G p.L760R 0.276957 0.4355 0.098205 0.1533 0.4525 0.7 T 0.0 P -1.035 T 0.0 T 0.002 T Pathogenic 7_6193521_G->C 7 6193521 6193521 G C snp 851.77 0/1 99 61 29 32 0.52 exonic rs61729726 USP42 AU nonsynonymous SNV NM_032172 exon15 c.G2336C p.R779P 0.578075 0.7331 0.369754 0.4877 0.7541 0.3 T 0.0 P -1.069 T 0.0 T 0.0 T Pathogenic 7_6194274_T->C 7 6194274 6194274 T C snp 1785.77 0/1 99 169 86 83 0.49 exonic rs6463529 USP42 AU nonsynonymous SNV NM_032172 exon15 c.T3089C p.L1030P 0.471246 0.7282 0.277957 0.3498 0.7480 0.33 T 0.000 P -1.008 T 0.0 T 0.0 T Pathogenic 7_6194876_G->A 7 6194876 6194876 G A snp 519.77 0/1 99 46 22 24 0.52 intronic rs6964819 USP42 AU NM_032172 exon15 c.44062+50G>A 0.224441 0.4325 0.104574 0.1449 0.4235 Uncertain 7_6199072_G->C 7 6199072 6199072 G C snp 1828.77 0/1 99 137 58 79 0.58 intronic rs3750064 USP42 AU NM_032172 exon17 c.48316-8G>C 0.145367 0.4038 0.039754 0.0765 0.4339 Uncertain 7_6204693_C->G 7 6204693 6204693 C G snp 1295.77 0/1 99 113 55 58 0.51 intronic rs2301911 CYTH3 AU NM_004227 exon1 c.73+46C>G 0.286142 0.6756 0.095571 0.1457 0.6846 Uncertain 7_6204999_A->C 7 6204999 6204999 A C snp 5293.77 1/1 99 180 0 180 1.0 exonic rs2301910 CYTH3 AU synonymous SNV NM_004227 exon12 c.T1032G p.T344T 0.795128 0.8502 0.746693 0.7063 0.8588 Uncertain 7_6212656_C->T 7 6212656 6212656 C T snp 262.77 0/1 99 27 14 13 0.48 intronic rs3793205 CYTH3 AU NM_004227 exon8 c.8709-627C>T 0.263578 0.6687 Uncertain 7_6370144_G->A 7 6370144 6370144 G A snp 2623.77 0/1 99 250 141 109 0.44 exonic rs1043965 FAM220A AU synonymous SNV NM_001037163 exon2 c.C642T p.D214D 0.442292 0.4603 0.339305 0.2964 0.4703 Uncertain 7_6370194_C->T 7 6370194 6370194 C T snp 7448.77 1/1 99 250 0 250 1.0 exonic rs6952125 FAM220A AU nonsynonymous SNV NM_001037163 exon2 c.G592A p.V198M 0.732628 0.8839 0.601799 0.5913 0.8889 0.1 T 0.0 P -1.069 T 0.42 T 0.135 T Pathogenic 7_6370305_C->G 7 6370305 6370305 C G snp 7497.77 1/1 99 247 0 247 1.0 exonic rs3750039 FAM220A AU nonsynonymous SNV NM_001037163 exon2 c.G481C p.V161L 0.722444 0.8829 0.590357 0.5907 0.8891 1 T 0.000 P -1.000 T 0.0 T 0.0 T Pathogenic 7_6370406_C->T 7 6370406 6370406 C T snp 4369.77 1/1 99 140 0 140 1.0 exonic rs3750040 FAM220A AU nonsynonymous SNV NM_001037163 exon2 c.G380A p.R127Q 0.723043 0.8839 0.591650 0.5882 0.8891 0.6 T 0.000 P -1.039 T 0.994 D 0.662 D Pathogenic 7_6414545_C->T 7 6414545 6414545 C T snp 211.84 1/1 18 8 0 8 1.0 intronic rs2303363 RAC1 AU NM_018890 exon1 c.35+144C>T 0.175719 0.4821 Uncertain 7_6426941_C->T 7 6426941 6426941 C T snp 2565.77 1/1 99 104 0 104 1.0 intronic rs702483 RAC1 AU NM_018890 exon2 c.12548+27C>T 0.720847 0.9018 0.576515 0.5695 0.9068 Uncertain 7_6431690_C->T 7 6431690 6431690 C T snp 8273.77 1/1 99 250 0 250 1.0 intronic rs836478 RAC1 AU NM_018890 exon3 c.17306+18C>T 0.691494 0.9008 0.542519 0.5603 0.9073 Uncertain 7_6441688_T->C 7 6441688 6441688 T C snp 1878.77 1/1 99 71 0 71 1.0 intronic rs2303364 RAC1 AU NM_018890 exon6 c.27292+30T>C 0.18151 0.4821 0.039828 0.1130 0.5041 Uncertain 7_6441799_G->C 7 6441799 6441799 G C snp 2377.77 1/1 99 80 0 80 1.0 intronic rs836551 RAC1 AU NM_018890 exon6 c.27292+141G>C 0.70008 0.9028 Uncertain 7_6449272_A->G 7 6449272 6449272 A G snp 679.77 1/1 51 19 0 19 1.0 UTR3 rs702485 DAGLB AU 0.697883 0.8938 Uncertain 7_6450128_T->C 7 6450128 6450128 T C snp 792.77 1/1 60 23 0 23 1.0 intronic rs836561 DAGLB AU NM_139179 exon2 c.544+117T>C 0.354832 0.6121 Uncertain 7_6456302_C->T 7 6456302 6456302 C T snp 3423.77 1/1 99 122 2 120 0.98 exonic rs2288152 DAGLB AU synonymous SNV NM_139179 exon11 c.G1383A p.P461P 0.178714 0.4742 0.034907 0.1123 0.5073 Uncertain 7_6456669_C->T 7 6456669 6456669 C T snp 907.77 1/1 69 24 0 24 1.0 intronic rs836508 DAGLB AU NM_139179 exon6 c.7085+117C>T 0.652756 0.8175 Uncertain 7_6465472_G->A 7 6465472 6465472 G A snp 733.77 1/1 54 25 0 25 1.0 intronic rs2272156 DAGLB AU NM_139179 exon9 c.16151-146G>A 0.181709 0.4732 Uncertain 7_6472354_G->A 7 6472354 6472354 G A snp 488.77 1/1 39 16 0 16 1.0 intronic rs836532 DAGLB AU NM_139179 exon11 c.23000-113G>A 0.501398 0.5486 Uncertain 7_6566322_T->G 7 6566322 6566322 T G snp 1357.77 0/1 99 98 38 60 0.61 exonic rs2881723 GRID2IP AU synonymous SNV NM_001145118 exon3 c.A663C p.A221A 0.721246 0.4206 0.7520 0.4872 Uncertain 7_6570618_G->C 7 6570618 6570618 G C snp 973.77 0/1 99 89 48 41 0.46 intronic rs11772639 GRID2IP AU NM_001145118 exon20 c.28996+4218G>C 0.363419 0.3839 Uncertain 7_6590693_G->A 7 6590693 6590693 G A snp 124.77 0/1 99 11 5 6 0.55 exonic rs6463571 GRID2IP AU synonymous SNV NM_001145118 exon1 c.C375T p.R125R 0.771366 0.5446 0.7092 0.6190 Uncertain 7_6591041_C->G 7 6591041 6591041 C G snp 1176.77 0/1 99 82 37 45 0.55 exonic rs4724818 GRID2IP AU synonymous SNV NM_001145118 exon1 c.G27C p.T9T 0.303115 0.2173 0.3370 0.2329 Uncertain 7_6641635_C->T 7 6641635 6641635 C T snp 1438.77 0/1 99 108 47 61 0.56 intronic rs13246348 C7orf26 AU NM_024067 exon5 c.11817-96C>T 0.225639 0.2391 Uncertain 7_6647738_T->C 7 6647738 6647738 T C snp 197.77 0/1 99 13 6 7 0.54 exonic rs4416743 C7orf26 AU synonymous SNV NM_024067 exon6 c.T1296C p.H432H 0.754193 0.5248 0.902982 0.7664 0.5279 Uncertain 7_6656830_G->A 7 6656830 6656830 G A snp 1330.77 0/1 99 120 64 56 0.47 exonic rs2243563 ZNF853 AU nonsynonymous SNV NM_017560 exon2 c.G22A p.G8R 0.741214 0.753 0.620675 0.7229 0.7840 Pathogenic 7_6656897_A->G 7 6656897 6656897 A G snp 1500.77 0/1 99 140 71 69 0.49 exonic rs1806552 ZNF853 AU nonsynonymous SNV NM_017560 exon2 c.A89G p.Q30R 0.771765 0.7609 0.7241 0.7887 Pathogenic 7_6660790_G->A 7 6660790 6660790 G A snp 2132.77 0/1 99 195 103 92 0.47 exonic rs940873 ZNF853 AU synonymous SNV NM_017560 exon3 c.G168A p.E56E 0.409744 0.5208 0.300482 0.3225 0.5020 Uncertain 7_6713936_C->T 7 6713936 6713936 C T snp 1600.77 0/1 99 179 116 63 0.35 intergenic rs7798061 ZNF316 AU 0.263778 0.3075 0.1652 0.2544 0 D -0.360 T Uncertain 7_6713941_AG->- 7 6713941 6713942 AG - indel 2837.73 0/1 99 180 116 64 0.36 intergenic rs58381208 ZNF316 AU 0.1648 0.2528 ID=COSM1488649,COSM1488651,COSM1488650;OCCURENCE=1(breast) Uncertain 7_6713985_A->G 7 6713985 6713985 A G snp 6549.77 1/1 99 224 2 222 0.99 intergenic rs2243620 ZNF316 AU 0.834864 0.9355 0.7638 0.9298 0.5 T -1.078 T Uncertain 7_6714028_G->A 7 6714028 6714028 G A snp 2375.77 0/1 99 249 133 116 0.47 intergenic rs62439695 ZNF316 AU 0.190895 0.3046 0.1254 0.2846 Uncertain 7_6715127_C->G 7 6715127 6715127 C G snp 114.77 0/1 99 10 6 4 0.4 intergenic rs7357087 ZNF316 AU 0.303315 0.2976 Uncertain 7_6744957_T->C 7 6744957 6744957 T C snp 1125.77 0/1 99 89 43 46 0.52 intronic rs7798471 ZNF12 AU NM_016265 exon4 c.14376+103T>C 0.365415 0.3145 Uncertain 7_6776650_G->A 7 6776650 6776650 G A snp 419.77 0/1 99 44 30 14 0.32 ncRNA_intronic rs7784521 PMS2CL AU 0.24361 0.3433 Uncertain 7_6776956_A->G 7 6776956 6776956 A G snp 1958.77 0/1 99 173 90 83 0.48 ncRNA_exonic rs7804542 PMS2CL AU 0.283147 0.3413 0.2296 0.3148 Uncertain 7_6777369_T->C 7 6777369 6777369 T C snp 1709.77 0/1 99 147 76 71 0.48 ncRNA_exonic rs35291651 PMS2CL AU 0.243211 0.3413 Uncertain 7_6781595_C->T 7 6781595 6781595 C T snp 86.77 0/1 28 4 1 3 0.75 ncRNA_intronic rs150989429 PMS2CL AU 0.164537 0.3135 Uncertain 7_6785956_A->G 7 6785956 6785956 A G snp 84.77 0/1 99 11 5 6 0.55 ncRNA_intronic rs28694792 PMS2CL AU 0.15595 0.0972 Uncertain 7_6786731_C->T 7 6786731 6786731 C T snp 1183.77 0/1 99 89 35 54 0.61 ncRNA_exonic rs111706670 PMS2CL AU 0.0722843 0.0972 Uncertain 7_6790900_T->C 7 6790900 6790900 T C snp 82.77 0/1 30 156 119 37 0.24 ncRNA_exonic rs200453156 PMS2CL AU Uncertain 7_6791040_G->C 7 6791040 6791040 G C snp 112.77 0/1 99 75 51 24 0.32 ncRNA_exonic rs199677566 PMS2CL AU 0.0603035 0.0843 Uncertain 7_6797520_G->C 7 6797520 6797520 G C snp 95.77 0/1 99 249 207 42 0.17 exonic rs2711191 RSPH10B AU nonsynonymous SNV NM_001099697 exon3 c.G212C p.S71T 8.602e-06 0 1 T 0.001 P -0.901 T 0.0 T 0.0 T Pathogenic 7_6805524_T->C 7 6805524 6805524 T C snp 638.77 0/1 99 83 48 35 0.42 intronic rs2711244 RSPH10B AU NM_173565 exon7 c.8114+102T>C 0.150359 0.1498 Uncertain 7_6806605_G->A 7 6806605 6806605 G A snp 116.77 0/1 64 12 5 7 0.58 intronic rs148761894 RSPH10B AU NM_173565 exon8 c.9200+97G>A 0.113219 0.0268 Uncertain 7_6820318_C->T 7 6820318 6820318 C T snp 222.84 1/1 18 7 0 7 1.0 intronic rs575485597 RSPH10B AU NM_173565 exon14 c.23131-121C>T 0.000399361 0.002 Uncertain 7_6845516_C->T 7 6845516 6845516 C T snp 685.77 0/1 99 54 24 30 0.56 intronic rs144852517 CCZ1B AU NM_198097 exon5 c.6780-118C>T Uncertain 7_6845594_C->T 7 6845594 6845594 C T snp 1189.77 0/1 99 173 72 101 0.58 intronic rs202001623 CCZ1B AU NM_198097 exon5 c.6780-40C>T 0.3046 0.2495 Uncertain 7_6854272_A->T 7 6854272 6854272 A T snp 1129.77 1/1 84 30 0 30 1.0 intronic rs11769113 CCZ1B AU NM_198097 exon8 c.15540-122A>T 0.989617 1 Uncertain 7_6854511_C->G 7 6854511 6854511 C G snp 1193.77 0/1 99 181 122 59 0.33 intronic rs143064541 CCZ1B AU NM_198097 exon8 c.15622+35C>G 0.2246 0.2149 Uncertain 7_6854512_G->A 7 6854512 6854512 G A snp 2983.77 0/1 99 177 56 121 0.68 intronic rs58851147 CCZ1B AU NM_198097 exon8 c.15622+36G>A 0.328474 0.4196 0.271544 0.2842 0.3901 Uncertain 7_6859453_C->G 7 6859453 6859453 C G snp 989.77 0/1 99 169 75 94 0.56 exonic rs145992513 CCZ1B AU nonsynonymous SNV NM_198097 exon7 c.G642C p.E214D 0.222045 0.2093 0.2724 0.2270 0.21 T 0.999 P -1.034 T Pathogenic 7_6861880_G->C 7 6861880 6861880 G C snp 1158.77 1/1 90 53 0 53 1.0 intronic rs2711224 CCZ1B AU NM_198097 exon10 c.23057-31G>C 0.620407 0.6667 0.5042 0.6122 Uncertain 7_6862789_C->T 7 6862789 6862789 C T snp 238.8 1/1 21 8 0 8 1.0 intronic rs6970263 CCZ1B AU NM_198097 exon11 c.24089-154C>T 0.623203 0.6677 Uncertain 7_7106798_A->G 7 7106798 7106798 A G snp 891.77 0/1 99 59 21 38 0.64 upstream rs2979765 MIR3683 AU 0.175719 0.5407 Uncertain 7_7277807_G->A 7 7277807 7277807 G A snp 124.77 0/1 99 11 5 6 0.55 intronic rs3807862 C1GALT1 AU NM_020156 exon3 c.3935-78G>A 0.761781 0.9296 Uncertain 7_7398457_T->G 7 7398457 7398457 T G snp 1557.77 0/1 99 125 69 56 0.45 intronic rs2348042 COL28A1 AU NM_001037763 exon1 c.173+21T>G 0.639377 0.873 0.595766 0.7276 0.8591 Uncertain 7_7400239_A->G 7 7400239 7400239 A G snp 119.77 0/1 99 8 3 5 0.63 intronic rs7786515 COL28A1 AU NM_001037763 exon2 c.1896+80A>G 0.811102 0.874 Uncertain 7_7420613_T->C 7 7420613 7420613 T C snp 77.77 0/1 67 5 2 3 0.6 intronic rs1294625 COL28A1 AU NM_001037763 exon7 c.22230+120T>C 0.692492 0.8879 Uncertain 7_7421019_C->A 7 7421019 7421019 C A snp 401.77 1/1 30 13 0 13 1.0 intronic rs1294626 COL28A1 AU NM_001037763 exon8 c.22911-155C>A 0.942093 0.999 Uncertain 7_7421310_A->G 7 7421310 7421310 A G snp 964.77 0/1 99 70 32 38 0.54 intronic rs1294627 COL28A1 AU NM_001037763 exon8 c.22980+67A>G 0.658546 0.8869 0.597678 Uncertain 7_7491873_A->C 7 7491873 7491873 A C snp 1526.77 1/1 99 54 0 54 1.0 intronic rs4720735 COL28A1 AU NM_001037763 exon18 c.93686-76A>C 0.990216 1 Uncertain 7_7491874_G->T 7 7491874 7491874 G T snp 1525.77 1/1 99 54 0 54 1.0 intronic rs4720736 COL28A1 AU NM_001037763 exon18 c.93686-75G>T 0.990216 1 Uncertain 7_7492175_A->G 7 7492175 7492175 A G snp 74.77 0/1 99 7 4 3 0.43 intronic rs10486164 COL28A1 AU NM_001037763 exon18 c.93755+157A>G 0.0539137 0.0268 Uncertain 7_7528880_G->A 7 7528880 7528880 G A snp 93.28 1/1 9 3 0 3 1.0 intronic rs12671912 COL28A1 AU NM_001037763 exon23 c.130756-139G>A 0.555112 0.7827 Uncertain 7_7528951_C->T 7 7528951 7528951 C T snp 1340.77 1/1 96 49 0 49 1.0 intronic rs6463696 COL28A1 AU NM_001037763 exon23 c.130756-68C>T 0.972045 1 Uncertain 7_7557297_T->C 7 7557297 7557297 T C snp 2826.77 1/1 99 95 0 95 1.0 intronic rs1016028 COL28A1 AU NM_001037763 exon29 c.159163-129T>C 0.964657 1 Uncertain 7_7557618_C->- 7 7557618 7557618 C - indel 231.73 0/1 99 30 19 11 0.37 intronic rs748462371 COL28A1 AU NM_001037763 exon29 c.159205+150delC Uncertain 7_7571094_G->C 7 7571094 7571094 G C snp 5421.77 1/1 99 195 0 195 1.0 exonic rs7804532 COL28A1 AU nonsynonymous SNV NM_001037763 exon3 c.C566G p.A189G 0.953874 0.999 0.937521 0.9486 0.9993 1 T 0.004 P -0.931 T 0.0 T 0.0 T Pathogenic 7_7572215_G->A 7 7572215 7572215 G A snp 56.74 1/1 6 2 0 2 1.0 intronic rs6977800 COL28A1 AU NM_001037763 exon34 c.174119-167G>A 0.563698 0.7063 Uncertain 7_7622696_C->T 7 7622696 7622696 C T snp 305.78 1/1 24 9 0 9 1.0 intronic rs4720741 MIOS AU NM_019005 exon6 c.10642-52C>T 0.957468 1 Uncertain 7_7627994_T->C 7 7627994 7627994 T C snp 56.74 1/1 6 3 0 3 1.0 intronic rs6463702 MIOS AU NM_019005 exon8 c.16022-134T>C 0.878794 0.996 Uncertain 7_7628275_C->T 7 7628275 7628275 C T snp 475.77 1/1 36 15 0 15 1.0 intronic rs7801367 MIOS AU NM_019005 exon8 c.16088+81C>T 0.940895 0.996 Uncertain 7_7645535_A->G 7 7645535 7645535 A G snp 2036.77 1/1 99 64 0 64 1.0 intronic rs10276434 MIOS AU NM_019005 exon12 c.33466-37A>G 0.989617 1 0.980799 0.9820 0.9994 Uncertain 7_7645806_A->G 7 7645806 7645806 A G snp 4325.77 1/1 99 137 0 137 1.0 intronic rs2286209 MIOS AU NM_019005 exon12 c.33596+104A>G 0.619609 0.6696 Uncertain 7_7646651_G->T 7 7646651 7646651 G T snp 2798.77 1/1 99 108 0 108 1.0 exonic rs7806046 MIOS AU synonymous SNV NM_019005 exon13 c.G2556T p.S852S 0.989417 1 0.983639 0.9820 0.9995 Uncertain 7_7646687_A->G 7 7646687 7646687 A G snp 3288.77 1/1 99 129 0 129 1.0 exonic rs4222 MIOS AU synonymous SNV NM_019005 exon13 c.A2592G p.T864T 0.691294 0.7381 0.732836 0.7518 0.7444 Uncertain 7_7677757_C->T 7 7677757 7677757 C T snp 222.77 0/1 99 14 7 7 0.5 intronic rs6463709 RPA3 AU NM_002947 exon2 c.973+154C>T 0.378594 0.7639 Uncertain 7_7712942_AGCAGCAGC->- 7 7712942 7712950 AGCAGCAGC - indel 4419.73 ./1 99 67 0 67 1.0 UTR5 rs10527750 UMAD1 AU 0.632188 0.7827 Uncertain 7_7712942_AGC->- 7 7712942 7712944 AGC - indel 4419.73 ./1 99 67 0 67 1.0 splicing rs551829612 UMAD1 AU Pathogenic 7_7841524_G->T 7 7841524 7841524 G T snp 449.77 0/1 99 31 13 18 0.58 intronic rs6463722 UMAD1 AU NM_001302348 exon3 c.128372+150G>T 0.389377 0.2649 Uncertain 7_7841561_C->T 7 7841561 7841561 C T snp 195.77 0/1 99 11 4 7 0.64 intronic rs2348558 UMAD1 AU NM_001302348 exon3 c.128372+187C>T 0.869808 0.7976 Uncertain 7_8008970_C->G 7 8008970 8008970 C G snp 396.77 0/1 99 82 59 23 0.28 UTR5 rs7786263 GLCCI1 AU 0.158946 0.2212 0.1853 0.2245 Uncertain 7_8110397_A->C 7 8110397 8110397 A C snp 71.77 0/1 99 8 5 3 0.38 intronic rs16872488 GLCCI1 AU NM_138426 exon6 c.101569-153A>C 0.156749 0.2302 Uncertain 7_8110475_G->A 7 8110475 8110475 G A snp 1046.77 0/1 99 70 33 37 0.53 intronic rs10253861 GLCCI1 AU NM_138426 exon6 c.101569-75G>A 0.523163 0.4613 Uncertain 7_8125964_C->T 7 8125964 8125964 C T snp 6964.77 1/1 99 248 0 248 1.0 exonic rs929509 GLCCI1 AU synonymous SNV NM_138426 exon8 c.C1440T p.S480S 0.747604 0.7312 0.746271 0.7083 0.7464 Uncertain 7_8126194_A->G 7 8126194 8126194 A G snp 294.77 0/1 99 42 24 18 0.43 UTR3 rs12847 GLCCI1 AU 0.516973 0.5744 0.535610 0.5290 0.5834 Uncertain 7_8132252_T->C 7 8132252 8132252 T C snp 2900.77 1/1 99 115 0 115 1.0 intergenic rs4725069 GLCCI1 AU 0.728834 0.7292 0.6932 0.7623 Uncertain 7_8178837_C->T 7 8178837 8178837 C T snp 471.77 1/1 36 12 0 12 1.0 intronic rs3807844 ICA1 AU NM_001136020 exon4 c.25125+160C>T 0.89377 0.9901 Uncertain 7_8181555_-->CA 7 8181555 8181555 - CA indel 10541.7 1/1 99 247 0 247 1.0 intronic rs397696640 ICA1 AU NM_001136020 exon5 c.27895+108insCA 0.85623 0.997 0.8820 0.9988 Uncertain 7_8183347_C->T 7 8183347 8183347 C T snp 52.74 1/1 6 2 0 2 1.0 intronic rs11767851 ICA1 AU NM_001136020 exon6 c.29952-157C>T 0.873602 0.999 Uncertain 7_8196529_A->T 7 8196529 8196529 A T snp 5180.77 1/1 99 184 0 184 1.0 intronic rs10282493 ICA1 AU NM_001136020 exon7 c.43193-216A>T 0.757588 0.8929 0.8047 0.8918 0 D 0.0 P -1.067 T Uncertain 7_8196568_AAAAAAAAAAAAAAAAAG->- 7 8196568 8196585 AAAAAAAAAAAAAAAAAG - indel 12247.7 1/1 99 101 1 100 0.99 intronic rs200840693 ICA1 AU NM_001136020 exon7 c.43193-177_43193-160delAAAAAAAAAAAAAAAAAG 0.988818 0.999 0.6122 0.7039 Uncertain 7_8267649_T->G 7 8267649 8267649 T G snp 465.77 0/1 99 24 7 17 0.71 intronic rs3823817 ICA1 AU NM_001136020 exon11 c.114678-581T>G 0.208666 0.0784 Uncertain 7_8267654_-->A 7 8267654 8267654 - A indel 571.73 0/1 99 24 6 18 0.75 intronic rs3840618 ICA1 AU NM_001136020 exon11 c.114678-576insA 0.0994409 0.0784 Uncertain 7_8267875_C->G 7 8267875 8267875 C G snp 300.77 0/1 99 28 14 14 0.5 intronic rs2080171 ICA1 AU NM_001136020 exon11 c.114678-355C>G 0.163139 0.0784 Uncertain 7_8267925_T->- 7 8267925 8267925 T - indel 544.73 0/1 99 32 16 16 0.5 intronic rs5882159 ICA1 AU NM_001136020 exon11 c.114678-305delT 0.207867 0.0784 Uncertain 7_8268155_T->C 7 8268155 8268155 T C snp 875.77 0/1 99 65 29 36 0.55 intronic rs1861032 ICA1 AU NM_001136020 exon11 c.114678-75T>C 0.196486 0.0784 Uncertain 7_8475410_A->G 7 8475410 8475410 A G snp 453.77 0/1 99 43 24 19 0.44 intronic rs79827866 NXPH1 AU NM_152745 exon2 c.54+13A>G 0.0806709 0.0823 0.058041 0.0361 0.0656 Uncertain 7_8790549_C->T 7 8790549 8790549 C T snp 1040.77 1/1 78 30 0 30 1.0 intronic rs10225984 NXPH1 AU NM_152745 exon3 c.315294-88C>T 0.329473 0.375 Uncertain 7_10973362_C->T 7 10973362 10973362 C T snp 475.77 0/1 99 51 30 21 0.41 intronic rs7789764 NDUFA4 AU NM_002489 exon1 c.57+43C>T 0.706669 0.6865 0.651692 0.6167 0.7028 Uncertain 7_10979396_A->G 7 10979396 10979396 A G snp 71.77 0/1 99 7 4 3 0.43 intronic rs1616965 NDUFA4 AU NM_002489 exon4 c.6380-246A>G 0.728634 0.6905 Uncertain 7_11022230_A->G 7 11022230 11022230 A G snp 663.77 0/1 99 47 18 29 0.62 exonic rs218966 PHF14 AU nonsynonymous SNV NM_014660 exon3 c.A344G p.K115R 0.624201 0.4831 0.698682 0.6540 0.4718 0.19 T 1.000 P -0.977 T 0.0 T 0.0 T Pathogenic 7_11022564_G->A 7 11022564 11022564 G A snp 1563.77 0/1 99 138 79 59 0.43 exonic rs218965 PHF14 AU synonymous SNV NM_014660 exon3 c.G678A p.A226A 0.637979 0.4831 0.701374 0.6634 0.5064 Uncertain 7_11075263_A->G 7 11075263 11075263 A G snp 1241.77 0/1 99 77 32 45 0.58 splicing rs2353340 PHF14 AU NM_014660 exon8 c.61316-3A>G 0.457668 0.747 0.333698 0.4212 0.7682 Pathogenic 7_11208989_C->A 7 11208989 11208989 C A snp 232.77 0/1 99 21 11 10 0.48 intergenic rs28394821 PHF14 AU 0.40595 0.5129 Uncertain 7_11418670_C->A 7 11418670 11418670 C A snp 168.77 0/1 99 17 10 7 0.41 intronic rs2189352 THSD7A AU NM_015204 exon3 c.3276-26C>A 0.317891 0.2341 0.313360 0.2603 0.2403 Uncertain 7_11418931_T->C 7 11418931 11418931 T C snp 1438.77 0/1 99 129 66 63 0.49 intronic rs12670599 THSD7A AU NM_015204 exon3 c.3487+24T>C 0.366214 0.253 0.415573 0.3541 0.2558 Uncertain 7_11419104_G->T 7 11419104 11419104 G T snp 294.77 0/1 99 19 9 10 0.53 intronic rs2285757 THSD7A AU NM_015204 exon4 c.3836-152G>T 0.324481 0.2272 Uncertain 7_11419378_T->C 7 11419378 11419378 T C snp 876.77 0/1 99 62 27 35 0.56 intronic rs2107162 THSD7A AU NM_015204 exon4 c.3919+39T>C 0.364018 0.252 0.404730 0.3544 0.2998 Uncertain 7_11441700_G->T 7 11441700 11441700 G T snp 225.77 0/1 99 12 4 8 0.67 intronic rs1859225 THSD7A AU NM_015204 exon6 c.26175+105G>T 0.337061 0.2192 Uncertain 7_11446769_A->G 7 11446769 11446769 A G snp 495.77 0/1 99 34 14 20 0.59 intronic rs10260759 THSD7A AU NM_015204 exon8 c.31262+87A>G 0.0664936 0.0942 Uncertain 7_11446902_T->G 7 11446902 11446902 T G snp 833.77 0/1 99 102 62 40 0.39 intronic rs6956916 THSD7A AU NM_015204 exon9 c.31512-30T>G 0.345248 0.249 0.386238 0.4058 0.3269 Uncertain 7_11447159_G->C 7 11447159 11447159 G C snp 247.77 0/1 99 21 13 8 0.38 intronic rs6975407 THSD7A AU NM_015204 exon9 c.31630+109G>C 0.390575 0.2698 Uncertain 7_11452503_A->G 7 11452503 11452503 A G snp 1050.77 0/1 99 80 45 35 0.44 intronic THSD7A AU NM_015204 exon11 c.37007+76A>G Uncertain 7_11464297_T->C 7 11464297 11464297 T C snp 1434.77 0/1 99 139 75 64 0.46 intronic rs1859226 THSD7A AU NM_015204 exon13 c.48902-25T>C 0.415735 0.2907 0.443453 0.3971 0.2902 Uncertain 7_11466172_A->G 7 11466172 11466172 A G snp 207.77 0/1 99 20 12 8 0.4 intronic rs73675999 THSD7A AU NM_015204 exon13 c.49039+1713A>G 0.091254 0.0625 Uncertain 7_11485527_T->C 7 11485527 11485527 T C snp 529.77 1/1 42 15 0 15 1.0 intronic rs10262052 THSD7A AU NM_015204 exon15 c.70267-160T>C 0.529153 0.5427 Uncertain 7_11487100_C->G 7 11487100 11487100 C G snp 1440.77 1/1 99 52 0 52 1.0 intronic rs2074434 THSD7A AU NM_015204 exon16 c.71631+49C>G 0.366813 0.4048 0.373983 0.4011 0.4403 Uncertain 7_11501528_T->C 7 11501528 11501528 T C snp 222.77 0/1 99 22 14 8 0.36 intronic rs1014184 THSD7A AU NM_015204 exon18 c.86217-109T>C 0.104433 0.1647 Uncertain 7_11580903_A->G 7 11580903 11580903 A G snp 730.77 1/1 54 22 0 22 1.0 intronic rs2074604 THSD7A AU NM_015204 exon22 c.165625-142A>G 0.301118 0.3562 Uncertain 7_11581121_T->C 7 11581121 11581121 T C snp 5547.77 1/1 99 210 0 210 1.0 exonic rs47 THSD7A AU nonsynonymous SNV NM_015204 exon6 c.A1747G p.N583D 0.829273 0.7649 0.822913 0.7710 0.7552 0.63 T 0.000 P -0.965 T 0.0 T 0.0 T Pathogenic 7_11581134_T->C 7 11581134 11581134 T C snp 5085.77 1/1 99 186 0 186 1.0 exonic rs2074603 THSD7A AU synonymous SNV NM_015204 exon6 c.A1734G p.A578A 0.471645 0.5387 0.432336 0.4275 0.5034 Uncertain 7_11676694_C->A 7 11676694 11676694 C A snp 442.77 0/1 99 35 19 16 0.46 intronic rs2074597 THSD7A AU NM_015204 exon26 c.261168+106C>A 0.342652 0.4484 Uncertain 7_12255434_C->T 7 12255434 12255434 C T snp 1066.77 1/1 78 42 0 42 1.0 intronic rs6460901 TMEM106B AU NM_001134232 exon2 c.217+781C>T 0.589257 0.6498 Uncertain 7_12255511_G->A 7 12255511 12255511 G A snp 351.78 1/1 27 11 0 11 1.0 intronic rs6460902 TMEM106B AU NM_001134232 exon2 c.217+858G>A 0.61262 0.6498 Uncertain 7_12257938_A->G 7 12257938 12257938 A G snp 93.28 1/1 9 3 0 3 1.0 intronic rs6415232 TMEM106B AU NM_001134232 exon3 c.3647-145A>G 0.672923 0.6518 Uncertain 7_12263799_T->C 7 12263799 12263799 T C snp 6481.77 1/1 99 219 0 219 1.0 intronic rs11509137 TMEM106B AU NM_001134232 exon4 c.9415-52T>C 0.595048 0.6508 Uncertain 7_12263800_G->A 7 12263800 12263800 G A snp 6329.77 1/1 99 220 0 220 1.0 intronic rs11509153 TMEM106B AU NM_001134232 exon4 c.9415-51G>A 0.594848 0.6508 0.294384 Uncertain 7_12269260_-->TGTT 7 12269260 12269260 - TGTT indel 1120.73 1/1 48 16 0 16 1.0 intronic rs34404225 TMEM106B AU NM_001134232 exon5 c.14868-44insTGTT 0.595447 0.6508 0.491441 0.4871 0.6475 Uncertain 7_12269417_C->G 7 12269417 12269417 C G snp 1620.77 1/1 99 63 0 63 1.0 exonic rs3173615 TMEM106B AU nonsynonymous SNV NM_018374 exon6 c.C554G p.T185S 0.595048 0.6508 0.498693 0.4916 0.6538 0.06 T 0.999 P -0.967 T 0.043 T 0.017 T ID=CM135412;DIS=Frontotemporal dementia, in GRN mutation carriers, association with;TAG=DFP;PUB=23742080 DFP Pathogenic 7_12269575_G->C 7 12269575 12269575 G C snp 56.74 1/1 6 2 0 2 1.0 intronic rs13237715 TMEM106B AU NM_001134232 exon5 c.15009+130G>C 0.594649 0.6498 Uncertain 7_12269593_C->A 7 12269593 12269593 C A snp 54.74 1/1 6 2 0 2 1.0 intronic rs13237518 TMEM106B AU NM_001134232 exon5 c.15009+148C>A 0.611022 0.6498 Uncertain 7_12270625_G->A 7 12270625 12270625 G A snp 470.77 1/1 36 16 0 16 1.0 intronic rs2302635 TMEM106B AU NM_001134232 exon7 c.16251-62G>A 0.594848 0.6508 Uncertain 7_12270770_T->A 7 12270770 12270770 T A snp 1362.77 1/1 96 51 0 51 1.0 intronic rs2302634 TMEM106B AU NM_001134232 exon7 c.16305+29T>A 0.594848 0.6508 0.497612 0.4917 0.6535 Uncertain 7_12270815_C->T 7 12270815 12270815 C T snp 1314.77 1/1 93 45 0 45 1.0 intronic rs2302633 TMEM106B AU NM_001134232 exon7 c.16305+74C>T 0.594848 0.6508 0.495362 Uncertain 7_12270967_A->G 7 12270967 12270967 A G snp 85.77 0/1 69 6 2 4 0.67 intronic rs2302632 TMEM106B AU NM_001134232 exon7 c.16305+226A>G 0.360823 0.3393 Uncertain 7_12271452_A->G 7 12271452 12271452 A G snp 3927.77 1/1 99 139 0 139 1.0 intronic rs3800842 TMEM106B AU NM_001134232 exon8 c.17026-10A>G 0.660743 0.6528 0.617254 0.5991 0.6543 Uncertain 7_12370657_A->G 7 12370657 12370657 A G snp 257.77 0/1 99 18 9 9 0.5 UTR3 rs2253353 VWDE AU 0.347644 0.4474 Uncertain 7_12370703_T->- 7 12370703 12370703 T - indel 629.73 0/1 99 35 14 21 0.6 UTR3 rs3217131 VWDE AU 0.33147 0.4484 Uncertain 7_12370794_T->C 7 12370794 12370794 T C snp 2100.77 1/1 99 78 0 78 1.0 UTR3 rs1059002 VWDE AU 0.695288 0.6151 0.6028 0.5756 Uncertain 7_12370952_C->T 7 12370952 12370952 C T snp 1351.77 1/1 99 47 0 47 1.0 intronic rs6954265 VWDE AU NM_001135924 exon1 c.15+129C>T 0.695288 0.6151 Uncertain 7_12371001_G->A 7 12371001 12371001 G A snp 790.77 1/1 60 27 0 27 1.0 intronic rs6954555 VWDE AU NM_001135924 exon1 c.15+178G>A 0.695288 0.6151 Uncertain 7_12371019_A->T 7 12371019 12371019 A T snp 589.77 1/1 45 19 0 19 1.0 intronic rs3815534 VWDE AU NM_001135924 exon1 c.15+196A>T 0.695288 0.6151 Uncertain 7_12372999_T->G 7 12372999 12372999 T G snp 258.8 1/1 21 8 0 8 1.0 intronic rs6460928 VWDE AU NM_001135924 exon2 c.2282-91T>G 0.697284 0.6151 Uncertain 7_12373082_C->T 7 12373082 12373082 C T snp 2791.77 1/1 99 91 0 91 1.0 intronic rs6460929 VWDE AU NM_001135924 exon2 c.2282-8C>T 0.697085 0.6151 0.6033 0.5756 Uncertain 7_12373353_T->C 7 12373353 12373353 T C snp 1071.77 1/1 78 34 0 34 1.0 intronic rs6460930 VWDE AU NM_001135924 exon2 c.2386+159T>C 0.697883 0.6161 Uncertain 7_12373354_G->A 7 12373354 12373354 G A snp 992.77 1/1 72 31 0 31 1.0 intronic rs6460931 VWDE AU NM_001135924 exon2 c.2386+160G>A 0.697883 0.6161 Uncertain 7_12375667_-->T 7 12375667 12375667 - T indel 1174.73 ./1 99 34 0 34 1.0 intronic rs35608044 VWDE AU NM_001135924 exon3 c.4958-99insT 0.345647 0.1667 Uncertain 7_12375667_-->A 7 12375667 12375667 - A indel 1174.73 ./1 99 34 0 34 1.0 intronic rs35608044 VWDE AU NM_001135924 exon3 c.4958-99insA 0.329673 0.4454 Uncertain 7_12375995_T->C 7 12375995 12375995 T C snp 78.77 0/1 69 5 2 3 0.6 intronic rs80045192 VWDE AU NM_001135924 exon3 c.5054+133T>C 0.0357428 0.0248 Uncertain 7_12376792_T->C 7 12376792 12376792 T C snp 3192.79 0/1 99 250 123 127 0.51 intronic rs79186971 VWDE AU NM_001135924 exon5 c.5994-10T>C 0.0359425 0.0248 0.025843 0.0170 0.0161 Uncertain 7_12376811_A->C 7 12376811 12376811 A C snp 7136.77 1/1 99 250 0 250 1.0 exonic rs2192828 VWDE AU nonsynonymous SNV NM_001135924 exon25 c.T4454G p.F1485C 0.698283 0.6151 0.662286 0.6056 0.5735 1 T 0.101 P -0.881 T 0.0 T 0.0 T Pathogenic 7_12382637_C->T 7 12382637 12382637 C T snp 3830.77 1/1 99 129 0 129 1.0 intronic rs1440030 VWDE AU NM_001135924 exon8 c.11900-71C>T 0.696486 0.6101 Uncertain 7_12383967_T->A 7 12383967 12383967 T A snp 3878.77 1/1 99 144 0 144 1.0 intronic rs1440032 VWDE AU NM_001135924 exon10 c.13191-32T>A 0.679712 0.6101 0.644985 0.5975 0.5627 Uncertain 7_12391268_-->A 7 12391268 12391268 - A indel 1349.73 0/1 99 62 23 39 0.63 exonic rs11454536 VWDE AU stopgain NM_001135924 exon19 c.3816dupT p.K1273_E1274delinsX 0.139177 0.1905 0.114617 0.1239 0.1688 Pathogenic 7_12391319_G->T 7 12391319 12391319 G T snp 869.77 1/1 63 31 0 31 1.0 exonic rs6967385 VWDE AU nonsynonymous SNV NM_001135924 exon19 c.C3766A p.Q1256K 0.626797 0.5942 0.4922 0.5531 0.95 T 0.0 P -0.955 T 0.0 T 0.0 T Pathogenic 7_12393966_A->G 7 12393966 12393966 A G snp 2159.77 0/1 99 161 71 90 0.56 intronic rs6944618 VWDE AU NM_001135924 exon12 c.24928-1770A>G 0.85004 0.8085 0.8647 0.8207 Uncertain 7_12393974_A->C 7 12393974 12393974 A C snp 2327.77 0/1 99 184 89 95 0.52 intronic rs6944626 VWDE AU NM_001135924 exon12 c.24928-1762A>C 0.84984 0.8085 0.8638 0.8245 Uncertain 7_12394053_G->T 7 12394053 12394053 G T snp 3385.77 0/1 99 249 108 141 0.57 intronic rs6945167 VWDE AU NM_001135924 exon12 c.24928-1683G>T 0.892971 0.8085 0.8696 0.82 Uncertain 7_12395813_T->C 7 12395813 12395813 T C snp 452.77 0/1 99 53 29 24 0.45 exonic rs2119141 VWDE AU synonymous SNV NM_001135924 exon18 c.A3669G p.Q1223Q 0.770767 0.8065 0.738721 0.7698 0.8248 Uncertain 7_12396040_A->G 7 12396040 12396040 A G snp 40.77 0/1 69 6 4 2 0.33 intronic rs4719307 VWDE AU NM_001135924 exon12 c.25148+84A>G 0.661542 0.5605 Uncertain 7_12399190_A->G 7 12399190 12399190 A G snp 530.77 0/1 99 38 16 22 0.58 intronic rs4721093 VWDE AU NM_001135924 exon14 c.28395-13A>G 0.110423 0.1925 0.093681 0.1252 0.1749 Uncertain 7_12400783_C->T 7 12400783 12400783 C T snp 385.77 0/1 99 28 11 17 0.61 exonic rs35171886 VWDE AU nonsynonymous SNV NM_001135924 exon15 c.G3149A p.C1050Y 0.108027 0.1935 0.090829 0.1198 0.1672 0 D 0.988 P -1.289 T 1.0 D 0.98 D Pathogenic 7_12400837_G->A 7 12400837 12400837 G A snp 881.77 1/1 66 35 0 35 1.0 exonic rs2053380 VWDE AU nonsynonymous SNV NM_001135924 exon15 c.C3095T p.T1032M 0.764577 0.7222 0.767826 0.7714 0.7314 1 T 0.000 P -0.945 T 0.0 T 0.0 T Pathogenic 7_12401021_C->T 7 12401021 12401021 C T snp 1516.77 0/1 99 180 111 69 0.38 exonic rs80272295 VWDE AU nonsynonymous SNV NM_001135924 exon14 c.G3025A p.G1009R 0.107628 0.1925 0.093955 0.1196 0.1704 0.09 T 0.000 P -1.075 T 0.09 T 0.034 T Pathogenic 7_12407168_A->- 7 12407168 12407168 A - indel 242.74 1/1 27 13 0 13 1.0 intronic rs111337147 VWDE AU NM_001135924 exon17 c.36311+49delA 0.149561 0.2034 0.136846 0.1445 0.1900 Uncertain 7_12409263_C->A 7 12409263 12409263 C A snp 4753.77 1/1 99 169 1 168 0.99 exonic rs17165906 VWDE AU nonsynonymous SNV NM_001135924 exon12 c.G2669T p.C890F 0.156949 0.2024 0.133158 0.1482 0.1752 0 D 1.000 P -1.368 T 1.0 D 0.998 D Pathogenic 7_12409327_C->T 7 12409327 12409327 C T snp 7008.77 1/1 99 250 0 250 1.0 exonic rs17165910 VWDE AU nonsynonymous SNV NM_001135924 exon12 c.G2605A p.E869K 0.156749 0.2024 0.132720 0.1473 0.1747 0.05 T 0.004 P -1.148 T 0.979 D 0.549 D Pathogenic 7_12409522_A->G 7 12409522 12409522 A G snp 5912.77 1/1 99 191 0 191 1.0 exonic rs3823844 VWDE AU nonsynonymous SNV NM_001135924 exon12 c.T2410C p.Y804H 0.175519 0.2034 0.150241 0.1554 0.1752 0.5 T 0.0 P -1.062 T 0.0 T 0.001 T Pathogenic 7_12409535_A->G 7 12409535 12409535 A G snp 5750.77 1/1 99 193 1 192 0.99 exonic rs3801366 VWDE AU synonymous SNV NM_001135924 exon12 c.T2397C p.S799S 0.159944 0.2024 0.134691 0.1506 0.1752 Uncertain 7_12410112_G->A 7 12410112 12410112 G A snp 3615.77 1/1 99 125 0 125 1.0 exonic rs963323 VWDE AU nonsynonymous SNV NM_001135924 exon12 c.C1820T p.S607F 0.779952 0.8155 0.811479 0.8150 0.8190 1 T 0.001 P -0.948 T 0.0 T 0.0 T Pathogenic 7_12410362_C->T 7 12410362 12410362 C T snp 2173.77 1/1 99 87 0 87 1.0 exonic rs1072557 VWDE AU synonymous SNV NM_001135924 exon11 c.G1716A p.P572P 0.189896 0.2024 0.164477 0.1608 0.1742 Uncertain 7_12414620_G->- 7 12414620 12414620 G - indel 721.73 1/1 71 29 0 29 1.0 intronic rs772575625 VWDE AU NM_001135924 exon22 c.43827-15delG 4.636e-05 0.0016 Uncertain 7_12414725_G->A 7 12414725 12414725 G A snp 3101.77 1/1 99 115 0 115 1.0 exonic rs17165936 VWDE AU stopgain NM_001135924 exon8 c.C1153T p.R385X 0.166733 0.2004 0.142638 0.1525 0.1752 1 T 1.0 P Pathogenic 7_12414993_A->T 7 12414993 12414993 A T snp 54.74 1/1 6 2 0 2 1.0 intronic rs6460940 VWDE AU NM_001135924 exon22 c.44045+140A>T 0.265575 0.2063 Uncertain 7_12417362_T->C 7 12417362 12417362 T C snp 79.77 0/1 99 9 5 4 0.44 intronic rs16877400 VWDE AU NM_001135924 exon23 c.46593-39T>C 0.0972444 0.1954 0.083077 0.1149 0.1738 Uncertain 7_12417407_C->T 7 12417407 12417407 C T snp 780.77 1/1 57 25 0 25 1.0 exonic rs7793993 VWDE AU nonsynonymous SNV NM_001135924 exon7 c.G1019A p.G340D 0.853435 0.9276 0.772030 0.8007 0.9337 1 T 0.000 P -0.954 T 0.0 T 0.0 T Pathogenic 7_12418964_T->C 7 12418964 12418964 T C snp 751.77 0/1 99 63 30 33 0.52 intronic rs10270931 VWDE AU NM_001135924 exon24 c.48294-138T>C 0.485224 0.5853 Uncertain 7_12419040_CA->- 7 12419040 12419041 CA - indel 2797.73 0/1 99 119 56 63 0.53 intronic rs10570724 VWDE AU NM_001135924 exon24 c.48294-62_48294-61delCA 0.584665 0.5873 Uncertain 7_12419108_A->T 7 12419108 12419108 A T snp 3463.77 1/1 99 135 0 135 1.0 exonic rs6967241 VWDE AU nonsynonymous SNV NM_001135924 exon6 c.T874A p.F292I 0.609824 0.5923 0.670390 0.6691 0.5868 1 T 0.000 P -0.927 T 0.0 T 0.0 T Pathogenic 7_12420092_G->C 7 12420092 12420092 G C snp 1933.77 1/1 99 52 0 52 1.0 intronic rs1025787 VWDE AU NM_001135924 exon25 c.49303-19G>C 0.613818 0.628 0.645204 0.6784 0.6035 Uncertain 7_12420447_T->G 7 12420447 12420447 T G snp 923.77 1/1 69 32 0 32 1.0 intronic rs6959370 VWDE AU NM_001135924 exon25 c.49551+88T>G 0.615216 0.628 Uncertain 7_12420517_T->A 7 12420517 12420517 T A snp 139.03 1/1 12 4 0 4 1.0 intronic rs6460941 VWDE AU NM_001135924 exon25 c.49551+158T>A 0.614417 0.628 Uncertain 7_12423395_A->G 7 12423395 12423395 A G snp 229.77 0/1 99 12 4 8 0.67 intronic rs17165967 VWDE AU NM_001135924 exon26 c.52419+168A>G 0.0147764 0.0069 Uncertain 7_12428494_CACT->- 7 12428494 12428497 CACT - indel 4047.73 0/1 99 148 83 65 0.44 intronic rs138321554 VWDE AU NM_001135924 exon27 c.57944-258_57944-255delCACT 0.0539137 0.0794 Uncertain 7_12428550_G->A 7 12428550 12428550 G A snp 1519.77 0/1 99 170 94 76 0.45 intronic rs848019 VWDE AU NM_001135924 exon27 c.57944-202G>A 0.0916534 0.0794 0.0678 0.0741 0.01 T 0.000 P -1.080 T Uncertain 7_12428582_C->T 7 12428582 12428582 C T snp 1365.77 0/1 99 135 77 58 0.43 intronic rs848018 VWDE AU NM_001135924 exon27 c.57944-170C>T 0.091254 0.0794 0.0692 0.0830 Uncertain 7_12428741_G->A 7 12428741 12428741 G A snp 1942.77 0/1 99 189 104 85 0.45 intronic rs848017 VWDE AU NM_001135924 exon27 c.57944-11G>A 0.0896565 0.0794 0.089356 0.0747 0.0823 Uncertain 7_12428803_G->A 7 12428803 12428803 G A snp 5966.77 1/1 99 211 0 211 1.0 exonic rs848016 VWDE AU nonsynonymous SNV NM_001135924 exon3 c.C425T p.S142F 0.687101 0.6171 0.641700 0.5897 0.6294 1 T 0.0 P -0.964 T 0.0 T 0.0 T Pathogenic 7_12429112_T->C 7 12429112 12429112 T C snp 251.8 1/1 21 8 0 8 1.0 intronic rs848015 VWDE AU NM_001135924 exon27 c.58176+128T>C 0.686901 0.6171 Uncertain 7_12433347_C->T 7 12433347 12433347 C T snp 877.77 0/1 99 96 54 42 0.44 exonic rs17165995 VWDE AU nonsynonymous SNV NM_001135924 exon2 c.G116A p.R39H 0.198083 0.126 0.194481 0.1591 0.1161 0.31 T 0.0 P -0.938 T 0.0 T 0.0 T Pathogenic 7_12433445_T->C 7 12433445 12433445 T C snp 756.77 0/1 99 62 30 32 0.52 intronic rs73052774 VWDE AU NM_001135924 exon28 c.62596+41T>C 0.053115 0.0794 0.052805 0.0633 0.0907 Uncertain 7_12443085_G->C 7 12443085 12443085 G C snp 1579.77 0/1 99 112 54 58 0.52 intronic rs7796586 VWDE AU NM_001135924 exon29 c.72476-199G>C 0.164337 0.131 Uncertain 7_12443128_A->G 7 12443128 12443128 A G snp 2823.77 0/1 99 250 138 112 0.45 intronic rs7796334 VWDE AU NM_001135924 exon29 c.72476-156A>G 0.207668 0.131 Uncertain 7_12443390_G->A 7 12443390 12443390 G A snp 1113.77 0/1 99 73 34 39 0.53 UTR5 rs17166017 VWDE AU 0.181909 0.131 0.176405 0.1524 0.1290 Uncertain 7_12609988_G->C 7 12609988 12609988 G C snp 970.77 1/1 72 30 0 30 1.0 upstream rs2240571 SCIN AU 0.52476 0.3998 Uncertain 7_12610594_A->G 7 12610594 12610594 A G snp 660.77 0/1 99 86 58 28 0.33 exonic rs2240572 SCIN AU nonsynonymous SNV NM_001112706 exon1 c.A182G p.H61R 0.402955 0.244 0.449825 0.4189 0.2328 0.16 T 1.000 P -0.936 T 0.0 T 0.001 T Pathogenic 7_12610947_A->G 7 12610947 12610947 A G snp 54.74 1/1 6 2 0 2 1.0 intronic rs2240575 SCIN AU NM_001112706 exon1 c.199+336A>G 0.537939 0.4018 Uncertain 7_12611252_T->C 7 12611252 12611252 T C snp 1726.77 1/1 99 65 0 65 1.0 intronic rs6460967 SCIN AU NM_001112706 exon1 c.199+641T>C 0.517971 0.4008 0.5518 0.3923 0.0 P Uncertain 7_12617224_C->G 7 12617224 12617224 C G snp 190.77 0/1 99 17 9 8 0.47 intronic rs55829483 SCIN AU NM_001112706 exon2 c.7276-464C>G 0.258586 0.2143 0.3397 0.1591 Uncertain 7_12620804_C->T 7 12620804 12620804 C T snp 1245.77 0/1 99 89 33 56 0.63 exonic rs17283717 SCIN AU synonymous SNV NM_001112706 exon3 c.C474T p.D158D 0.254593 0.2123 0.318660 0.3169 0.1994 Uncertain 7_12636026_T->C 7 12636026 12636026 T C snp 3307.77 1/1 99 119 0 119 1.0 intronic rs758111 SCIN AU NM_001112706 exon4 c.33726-8112T>C 0.948283 1 0.9173 1 0 D 0.0 P -1.027 T Uncertain 7_12644033_G->A 7 12644033 12644033 G A snp 107.77 0/1 99 9 5 4 0.44 intronic rs7798406 SCIN AU NM_001112706 exon4 c.33726-105G>A 0.435703 0.5298 Uncertain 7_12644334_G->T 7 12644334 12644334 G T snp 3215.74 1/1 99 121 0 121 1.0 intronic rs849778 SCIN AU NM_001112706 exon4 c.33876+46G>T 0.89377 0.999 0.852168 0.9088 1 Uncertain 7_12644348_-->GT 7 12644348 12644348 - GT indel 3564.73 1/1 99 105 0 105 1.0 intronic rs35421630 SCIN AU NM_001112706 exon4 c.33876+60insGT 0.796925 0.9216 Uncertain 7_12665517_T->C 7 12665517 12665517 T C snp 633.77 0/1 99 65 37 28 0.43 intronic rs2529782 SCIN AU NM_033128 exon5 c.2975+42T>C 0.104233 0.0913 0.106922 0.1111 0.0870 Uncertain 7_12666540_C->T 7 12666540 12666540 C T snp 214.77 0/1 99 15 8 7 0.47 intronic rs849757 SCIN AU NM_033128 exon6 c.3924+116C>T 0.102636 0.0883 Uncertain 7_12684340_C->T 7 12684340 12684340 C T snp 1401.77 0/1 99 106 48 58 0.55 intronic rs2691810 SCIN AU NM_033128 exon11 c.21830+10C>T 0.892772 0.8125 0.903593 0.8959 0.8427 Uncertain 7_12727826_G->C 7 12727826 12727826 G C snp 1690.77 0/1 99 135 60 75 0.56 UTR5 rs2280633 ARL4A AU 0.64377 0.3631 Uncertain 7_12728489_A->G 7 12728489 12728489 A G snp 1185.77 0/1 99 82 34 48 0.59 UTR3 rs112853446 ARL4A AU 0.131589 0.0397 0.158329 0.1520 0.0246 Uncertain 7_14016939_T->C 7 14016939 14016939 T C snp 580.77 1/1 42 21 0 21 1.0 intronic rs2074670 ETV1 AU NM_001163150 exon9 c.81561-112T>C 0.557508 0.5734 Uncertain 7_14017007_C->T 7 14017007 14017007 C T snp 859.77 1/1 60 38 0 38 1.0 intronic rs2066977 ETV1 AU NM_001163150 exon9 c.81561-44C>T 0.555511 0.5724 0.581471 0.4946 0.5375 Uncertain 7_14017008_C->G 7 14017008 14017008 C G snp 854.77 1/1 60 38 0 38 1.0 intronic rs2066976 ETV1 AU NM_001163150 exon9 c.81561-43C>G 0.555711 0.5724 0.580425 0.4952 0.5391 Uncertain 7_14017126_-->A 7 14017126 14017126 - A indel 421.73 1/1 45 17 0 17 1.0 intronic rs397736065 ETV1 AU NM_001163150 exon9 c.81615+21insA 0.554912 0.5704 0.4915 0.5389 Uncertain 7_14025640_G->A 7 14025640 14025640 G A snp 523.77 1/1 39 16 0 16 1.0 intronic rs3801110 ETV1 AU NM_001163151 exon9 c.90250-100G>A 0.57528 0.5833 Uncertain 7_14025727_C->T 7 14025727 14025727 C T snp 3168.77 1/1 99 111 0 111 1.0 intronic rs3823704 ETV1 AU NM_001163151 exon9 c.90250-13C>T 0.563698 0.5804 0.552759 0.5455 0.6131 Uncertain 7_14025766_T->A 7 14025766 14025766 T A snp 4651.77 1/1 99 167 0 167 1.0 intronic rs10215655 ETV1 AU NM_001163151 exon9 c.90250+26T>A 0.564097 0.5813 0.554390 0.5744 0.6219 Uncertain 7_14026357_A->G 7 14026357 14026357 A G snp 1490.77 1/1 99 45 0 45 1.0 intronic rs3213661 ETV1 AU NM_001163147 exon9 c.90820+47A>G 0.745607 0.5913 0.790960 0.7307 0.6131 Uncertain 7_14027557_G->A 7 14027557 14027557 G A snp 180.9 1/1 15 5 0 5 1.0 intronic rs7789916 ETV1 AU NM_001163147 exon10 c.92220-153G>A 0.744609 0.5913 Uncertain 7_14027867_-->CA 7 14027867 14027867 - CA indel 1060.73 1/1 41 47 1 46 0.98 intronic rs397809804 ETV1 AU NM_001163147 exon10 c.92308+69insCA 0.478235 0.5268 Uncertain 7_14028245_-->A 7 14028245 14028245 - A indel 219.73 0/1 99 37 22 15 0.41 intronic rs11460974 ETV1 AU NM_001163147 exon11 c.93142-387insA 0.59365 0.4573 Uncertain 7_14028708_A->- 7 14028708 14028708 A - indel 5368.73 1/1 99 124 1 123 0.99 UTR5 rs140879246 ETV1 AU 0.516374 0.4891 0.538240 0.5155 0.5460 Uncertain 7_14028794_-->AA 7 14028794 14028794 - AA indel 1278.73 ./1 99 57 2 55 0.96 intronic rs10622991 ETV1 AU NM_001163147 exon11 c.93274+30insAA 0.427316 0.3512 Uncertain 7_14028794_-->A 7 14028794 14028794 - A indel 1278.73 ./1 99 57 2 55 0.96 intronic rs10622991 ETV1 AU NM_001163147 exon11 c.93274+30insA 0.100639 0.1389 Uncertain 7_14028861_A->- 7 14028861 14028861 A - indel 225.73 0/1 99 16 7 9 0.56 intronic rs11328804 ETV1 AU NM_004956 exon13 c.93402-31delA 0.434105 0.3611 Uncertain 7_14216345_-->AGACT 7 14216345 14216345 - AGACT indel 745.73 0/1 99 41 29 12 0.29 intronic rs3216996 DGKB AU NM_004080 exon2 c.27708-118insAGACT 0.11861 0.2986 Uncertain 7_14384832_T->C 7 14384832 14384832 T C snp 564.77 1/1 42 17 0 17 1.0 intronic rs2271267 DGKB AU NM_145695 exon4 c.168477-93T>C 0.329273 0.381 Uncertain 7_14622510_G->A 7 14622510 14622510 G A snp 185.77 0/1 99 18 10 8 0.44 intronic rs17595234 DGKB AU NM_145695 exon8 c.406228-166G>A 0.427117 0.6835 Uncertain 7_14622870_A->T 7 14622870 14622870 A T snp 192.77 0/1 99 10 4 6 0.6 intronic rs3795245 DGKB AU NM_145695 exon8 c.406314+108A>T 0.407548 0.6806 Uncertain 7_14646986_C->G 7 14646986 14646986 C G snp 100.77 0/1 99 24 18 6 0.25 intronic rs17168299 DGKB AU NM_145695 exon9 c.430610-72C>G 0.421925 0.6935 Uncertain 7_14653054_T->C 7 14653054 14653054 T C snp 534.77 0/1 99 38 14 24 0.63 intronic rs1525088 DGKB AU NM_145695 exon10 c.436590+16T>C 0.381589 0.6984 0.289690 0.3763 0.7253 Uncertain 7_14712794_G->- 7 14712794 14712794 G - indel 1143.73 1/1 84 29 0 29 1.0 intronic rs34768816 DGKB AU NM_145695 exon13 c.496204+142delG 0.55012 0.878 Uncertain 7_14722345_A->C 7 14722345 14722345 A C snp 2730.77 0/1 99 249 135 114 0.46 intronic rs74354134 DGKB AU NM_145695 exon15 c.505929-32A>C 0.0541134 0.0407 0.035962 0.0315 0.0303 Uncertain 7_14737623_AAAG->- 7 14737623 14737626 AAAG - indel 312.8 1/1 18 6 0 6 1.0 intronic rs145306944 DGKB AU NM_145695 exon18 c.521271-96_521271-93delAAAG 0.574281 0.8839 Uncertain 7_14758273_C->T 7 14758273 14758273 C T snp 2299.77 1/1 99 99 0 99 1.0 exonic rs1997040 DGKB AU synonymous SNV NM_004080 exon5 c.G360A p.R120R 0.50599 0.8819 0.377166 0.5009 0.8792 Uncertain 7_14758314_-->A 7 14758314 14758314 - A indel 422.73 0/1 99 64 33 31 0.48 splicing rs201744437 DGKB AU NM_145695 exon20 c.541862+4insA 0.023762 0.0437 0.001862 0.0193 0.0339 Pathogenic 7_14775548_C->G 7 14775548 14775548 C G snp 80.77 0/1 99 6 3 3 0.5 intronic rs10237911 DGKB AU NM_145695 exon21 c.559217-117C>G 0.336062 0.4266 Uncertain 7_14775822_G->- 7 14775822 14775822 G - indel 885.73 0/1 99 68 23 45 0.66 splicing rs139628753 DGKB AU NM_145695 exon21 c.559371+3delG 0.558307 0.5655 0.6914 0.5323 ID=COSM150906;OCCURENCE=1(stomach) Pathogenic 7_14775824_A->C 7 14775824 14775824 A C snp 789.77 0/1 99 65 30 35 0.54 splicing rs80024169 DGKB AU NM_145695 exon21 c.559371+5A>C 0.558307 0.5655 0.7303 0.5927 Pathogenic 7_14789844_A->C 7 14789844 14789844 A C snp 1102.77 0/1 99 77 29 48 0.62 intronic rs1723239 DGKB AU NM_145695 exon22 c.577104-3708A>C 0.438299 0.4236 0.329375 0.3191 0.4776 Uncertain 7_14789946_G->A 7 14789946 14789946 G A snp 86.77 0/1 30 4 1 3 0.75 intronic rs1723238 DGKB AU NM_145695 exon22 c.577104-3606G>A 0.416933 0.4246 Uncertain 7_14793399_T->C 7 14793399 14793399 T C snp 44.78 0/1 27 3 1 2 0.67 intronic rs1723225 DGKB AU NM_145695 exon22 c.577104-153T>C 0.435703 0.4127 Uncertain 7_14793478_T->C 7 14793478 14793478 T C snp 292.77 0/1 99 26 16 10 0.38 intronic rs1723224 DGKB AU NM_145695 exon22 c.577104-74T>C 0.440495 0.4256 0.333114 Uncertain 7_14793724_G->C 7 14793724 14793724 G C snp 373.77 0/1 99 43 25 18 0.42 intronic rs4632953 DGKB AU NM_145695 exon22 c.577125+151G>C 0.438099 0.4256 Uncertain 7_14881080_AA->- 7 14881080 14881081 AA - indel 159.87 1/1 15 9 0 9 1.0 upstream rs398094859 DGKB AU 0.532748 0.5109 Uncertain 7_15346196_-->A 7 15346196 15346196 - A indel 305.73 0/1 99 42 10 32 0.76 intronic rs397686777 AGMO AU NM_001004320 exon2 c.164229-58942insA 0.725439 0.6567 0.5232 0.4876 Uncertain 7_15405840_G->A 7 15405840 15405840 G A snp 3308.77 0/1 99 250 107 143 0.57 exonic rs183233132 AGMO AU nonsynonymous SNV NM_001004320 exon11 c.C1082T p.S361L 0.000199681 0.001 0.0001 0.0018 0.1 T 1.000 D -0.933 T 0.713 T 0.107 P Pathogenic 7_15426956_G->A 7 15426956 15426956 G A snp 767.77 0/1 99 68 35 33 0.49 intronic rs4541808 AGMO AU NM_001004320 exon5 c.186121-74G>A 0.489816 0.3522 Uncertain 7_15430259_A->C 7 15430259 15430259 A C snp 276.77 0/1 99 36 25 11 0.31 intronic rs6942879 AGMO AU NM_001004320 exon6 c.189386-36A>C 0.313099 0.253 0.350108 0.3517 0.2729 Uncertain 7_15458033_C->G 7 15458033 15458033 C G snp 132.77 0/1 69 11 3 8 0.73 intronic rs4469360 AGMO AU NM_001004320 exon9 c.217273-149C>G 0.615216 0.3591 Uncertain 7_15652068_T->G 7 15652068 15652068 T G snp 625.77 0/1 99 56 29 27 0.48 exonic rs2237493 MEOX2 AU nonsynonymous SNV NM_005924 exon3 c.A859C p.I287L 0.125 0.3889 0.029832 0.0657 0.4268 1 T 0.0 P -1.030 T 0.0 T 0.0 T Pathogenic 7_15666230_C->T 7 15666230 15666230 C T snp 376.77 1/1 30 11 0 11 1.0 intronic rs3779406 MEOX2 AU NM_005924 exon2 c.14359-140C>T 0.663139 0.7956 Uncertain 7_15725798_TGG->- 7 15725798 15725800 TGG - indel 3643.73 1/1 99 85 0 85 1.0 exonic rs113582077 MEOX2 AU nonframeshift deletion NM_005924 exon1 c.228_230del p.76_77del 0.6241 0.7407 ID=COSM150907;OCCURENCE=1(stomach),1(upper_aerodigestive_tract),1(oesophagus),2(breast),1(liver),1(endometrium) Uncertain 7_15726066_G->A 7 15726066 15726066 G A snp 6377.77 1/1 99 222 3 219 0.99 UTR5 rs1050290 MEOX2 AU 0.680112 0.7202 0.700484 0.6143 0.7301 Uncertain 7_15726117_-->TTTT 7 15726117 15726117 - TTTT indel 3055.73 ./1 99 130 0 130 1.0 UTR5 MEOX2 AU Uncertain 7_15726117_-->TT 7 15726117 15726117 - TT indel 3055.73 ./1 99 130 0 130 1.0 UTR5 rs33970897 MEOX2 AU 0.645168 0.7044 Uncertain 7_15726129_A->C 7 15726129 15726129 A C snp 1999.77 1/1 99 73 0 73 1.0 UTR5 rs11975534 MEOX2 AU 0.645168 0.7044 Uncertain 7_16129153_C->T 7 16129153 16129153 C T snp 140.77 0/1 99 16 11 5 0.31 UTR3 rs28379235 ISPD AR 0.514177 0.375 0.5938 0.25 0.21 T -1.031 T Uncertain 7_16129172_A->G 7 16129172 16129172 A G snp 595.77 1/1 45 24 0 24 1.0 UTR3 rs9691136 ISPD AR 0.996406 1 0.9947 1 Uncertain 7_16129214_G->A 7 16129214 16129214 G A snp 208.77 0/1 99 38 23 15 0.39 UTR3 rs11773533 ISPD AR 0.33107 0.3155 0.4059 0.3571 0.75 T -0.945 T Uncertain 7_16131260_C->T 7 16131260 16131260 C T snp 1356.77 1/1 96 50 0 50 1.0 UTR3 rs1528137 ISPD AR 0.796326 0.8452 Uncertain 7_16298434_T->C 7 16298434 16298434 T C snp 104.77 0/1 99 11 7 4 0.36 ncRNA_intronic rs1295153 ISPD-AS1 AU 0.778355 0.7956 Uncertain 7_16298438_T->G 7 16298438 16298438 T G snp 141.77 0/1 99 13 7 6 0.46 ncRNA_intronic rs7799150 ISPD-AS1 AU 0.382987 0.3313 Uncertain 7_16348262_-->AAC 7 16348262 16348262 - AAC indel 3381.73 0/1 99 203 87 116 0.57 intronic rs142647500 ISPD AR NM_001101426 exon7 c.216933+10insAAC 0.0730831 0.1548 0.0456 0.1729 Uncertain 7_16445673_A->T 7 16445673 16445673 A T snp 1547.77 0/1 99 112 53 59 0.53 intronic rs6461252 ISPD AR NM_001101426 exon9 c.314366-12A>T 0.534145 0.5585 0.469798 0.4715 0.5666 Uncertain 7_16503724_C->A 7 16503724 16503724 C A snp 158.77 0/1 99 8 3 5 0.63 intronic rs17619858 SOSTDC1 AU NM_015464 exon1 c.416+1136C>A 0.192093 0.1806 Uncertain 7_16503932_C->G 7 16503932 16503932 C G snp 2068.77 0/1 99 192 104 88 0.46 intronic rs67149353 SOSTDC1 AU NM_015464 exon2 c.2916-1156C>G 0.167931 0.1647 0.2084 0.1947 Uncertain 7_16504178_A->T 7 16504178 16504178 A T snp 111.77 0/1 64 6 2 4 0.67 intronic rs4506094 SOSTDC1 AU NM_015464 exon2 c.2916-910A>T 0.669329 0.7242 Uncertain 7_16505055_AA->- 7 16505055 16505056 AA - indel 448.73 ./1 99 15 0 15 1.0 intronic rs59384879 SOSTDC1 AU NM_015464 exon2 c.2916-33_2916-32delAA 0.191294 0.2907 0.1355 0.3051 Uncertain 7_16505055_A->- 7 16505055 16505055 A - indel 448.73 ./1 99 15 0 15 1.0 intronic rs111391406 SOSTDC1 AU NM_015464 exon2 c.2916-33delA 0.239617 0.1796 0.3282 0.2412 ID=COSN180888,COSN180909;OCCURENCE=3(large_intestine) Uncertain 7_16505341_T->C 7 16505341 16505341 T C snp 2880.77 1/1 99 102 0 102 1.0 UTR5 rs6945425 SOSTDC1 AU 0.88119 0.9018 0.876519 0.8788 0.9112 Uncertain 7_16566391_T->G 7 16566391 16566391 T G snp 1497.77 1/1 99 44 0 44 1.0 upstream rs6461263 LRRC72 AU 0.778554 0.998 Uncertain 7_16566645_C->G 7 16566645 16566645 C G snp 1065.77 0/1 99 99 54 45 0.45 exonic rs2301968 LRRC72 AU nonsynonymous SNV NM_001195280 exon1 c.C68G p.T23S 0.0770767 0.1528 0.0613 0.1777 0.41 T 0.0 P -0.990 T Pathogenic 7_16571973_A->G 7 16571973 16571973 A G snp 120.77 0/1 67 8 3 5 0.63 intronic rs1404173 LRRC72 AU NM_001195280 exon2 c.5542-146A>G 0.480032 0.6022 Uncertain 7_16571976_C->G 7 16571976 16571976 C G snp 121.77 0/1 99 9 4 5 0.56 intronic rs1404172 LRRC72 AU NM_001195280 exon2 c.5542-143C>G 0.474042 0.6002 Uncertain 7_16572051_C->T 7 16572051 16572051 C T snp 804.77 0/1 99 74 40 34 0.46 intronic rs1404171 LRRC72 AU NM_001195280 exon2 c.5542-68C>T 0.480032 0.6022 Uncertain 7_16577376_G->A 7 16577376 16577376 G A snp 141.03 1/1 12 5 0 5 1.0 intronic rs6961390 LRRC72 AU NM_001195280 exon3 c.10744+55G>A 0.801717 0.998 Uncertain 7_16598655_G->A 7 16598655 16598655 G A snp 1125.77 1/1 81 39 0 39 1.0 intronic rs6979816 LRRC72 AU NM_001195280 exon5 c.32047+31G>A 0.799321 0.6895 0.7756 0.6770 Uncertain 7_16605818_G->A 7 16605818 16605818 G A snp 267.8 1/1 21 7 0 7 1.0 intronic rs499608 LRRC72 AU NM_001195280 exon6 c.39360-119G>A 0.746605 0.8323 Uncertain 7_16605861_-->T 7 16605861 16605861 - T indel 1114.73 1/1 99 34 0 34 1.0 intronic rs11463350 LRRC72 AU NM_001195280 exon6 c.39360-76insT 0.743011 0.8313 Uncertain 7_16606084_G->A 7 16606084 16606084 G A snp 1073.77 0/1 99 105 60 45 0.43 intronic rs1524359 LRRC72 AU NM_001195280 exon6 c.39450+57G>A 0.0483227 0.1161 Uncertain 7_16620928_A->G 7 16620928 16620928 A G snp 718.77 0/1 99 61 28 33 0.54 intronic rs562687 LRRC72 AU NM_001195280 exon9 c.54371-20A>G 0.488818 0.5129 0.4732 0.5145 Uncertain 7_16640300_A->G 7 16640300 16640300 A G snp 291.78 1/1 24 8 0 8 1.0 UTR3 rs1044983 ANKMY2 AU 0.330671 0.4812 Uncertain 7_16640358_T->C 7 16640358 16640358 T C snp 1303.77 1/1 96 40 0 40 1.0 UTR3 rs543387 ANKMY2 AU 0.826877 0.8353 0.760649 0.7829 0.8296 Uncertain 7_16650427_C->G 7 16650427 16650427 C G snp 4630.77 1/1 99 160 0 160 1.0 intronic rs572570 ANKMY2 AU NM_020319 exon5 c.10003+39C>G 0.770168 0.8264 0.751269 0.7322 0.8450 Uncertain 7_16664511_-->C 7 16664511 16664511 - C indel 1380.73 0/1 99 74 34 40 0.54 intronic rs34435348 ANKMY2 AU NM_020319 exon7 c.24222-96insC 0.142572 0.1438 Uncertain 7_16666741_T->G 7 16666741 16666741 T G snp 1033.77 0/1 99 120 67 53 0.44 exonic rs11532682 ANKMY2 AU synonymous SNV NM_020319 exon3 c.A195C p.L65L 0.139976 0.1438 0.173535 0.1824 0.1575 Uncertain 7_16666759_G->C 7 16666759 16666759 G C snp 1046.77 0/1 99 113 64 49 0.43 exonic rs11531477 ANKMY2 AU synonymous SNV NM_020319 exon3 c.C177G p.L59L 0.139976 0.1438 0.173228 0.1824 0.1576 Uncertain 7_16684247_G->C 7 16684247 16684247 G C snp 941.77 0/1 99 92 49 43 0.47 intronic rs3807505 ANKMY2 AU NM_020319 exon10 c.44746-884G>C 0.501997 0.4554 Uncertain 7_16705263_G->A 7 16705263 16705263 G A snp 672.77 0/1 99 49 22 27 0.55 intronic rs77294322 BZW2 AU NM_001159767 exon2 c.58+137G>A 0.0485224 0.1379 Uncertain 7_16793504_A->G 7 16793504 16793504 A G snp 742.77 0/1 99 51 26 25 0.49 UTR5 rs6975847 TSPAN13 AU 0.334465 0.2014 Uncertain 7_16793779_-->C 7 16793779 16793779 - C indel 2598.73 1/1 99 63 0 63 1.0 intronic rs11405941 TSPAN13 AU NM_014399 exon1 c.63+124insC 1 1 Uncertain 7_16815786_C->G 7 16815786 16815786 C G snp 1989.77 0/1 99 175 95 80 0.46 intronic rs2290836 TSPAN13 AU NM_014399 exon2 c.22243-49C>G 0.333466 0.2024 0.399123 0.3424 0.1983 Uncertain 7_16816000_T->C 7 16816000 16816000 T C snp 1072.77 0/1 99 78 36 42 0.54 exonic rs2290837 TSPAN13 AU synonymous SNV NM_014399 exon2 c.T228C p.F76F 0.338259 0.2024 0.406582 0.3457 0.1981 Uncertain 7_16818476_T->G 7 16818476 16818476 T G snp 54.74 1/1 6 2 0 2 1.0 intronic rs13232235 TSPAN13 AU NM_014399 exon5 c.25035-151T>G 0.222045 0.2073 Uncertain 7_16818799_A->G 7 16818799 16818799 A G snp 1113.77 0/1 99 78 37 41 0.53 intronic rs6461276 TSPAN13 AU NM_014399 exon5 c.25149+58A>G 0.296526 0.2351 Uncertain 7_16822875_C->G 7 16822875 16822875 C G snp 56.74 1/1 6 2 0 2 1.0 intronic rs10499475 TSPAN13 AU NM_014399 exon6 c.29449-166C>G 0.260982 0.4028 Uncertain 7_16832382_T->A 7 16832382 16832382 T A snp 326.77 0/1 99 23 10 13 0.57 UTR3 rs8071 AGR2 AU 0.129193 0.2837 Uncertain 7_16834444_C->T 7 16834444 16834444 C T snp 1631.77 1/1 99 55 0 55 1.0 intronic rs2272246 AGR2 AU NM_006408 exon2 c.2028-115C>T 0.76278 0.7808 0.7599 0.7729 Uncertain 7_16834551_C->A 7 16834551 16834551 C A snp 7079.77 1/1 99 244 1 243 1.0 intronic rs4719480 AGR2 AU NM_006408 exon2 c.2028-8C>A 0.916334 0.9633 0.869368 0.8690 0.9588 0.01 T 0.0 P -1.026 T Uncertain 7_16837404_C->T 7 16837404 16837404 C T snp 311.77 0/1 99 25 14 11 0.44 intronic rs819010 AGR2 AU NM_006408 exon3 c.4787+86C>T 0.682508 0.7123 Uncertain 7_16837454_C->T 7 16837454 16837454 C T snp 218.77 0/1 86 10 3 7 0.7 intronic rs2280655 AGR2 AU NM_006408 exon3 c.4787+136C>T 0.153754 0.1954 Uncertain 7_16839501_A->T 7 16839501 16839501 A T snp 190.77 0/1 99 18 10 8 0.44 intronic rs2272245 AGR2 AU NM_006408 exon4 c.6910+60A>T 0.418331 0.3105 0.460931 Uncertain 7_16839559_C->A 7 16839559 16839559 C A snp 49.77 0/1 33 4 1 3 0.75 intronic rs2272244 AGR2 AU NM_006408 exon4 c.6910+118C>A 0.0820687 0.3016 Uncertain 7_16839569_C->T 7 16839569 16839569 C T snp 49.77 0/1 33 4 1 3 0.75 intronic rs3817511 AGR2 AU NM_006408 exon4 c.6910+128C>T 0.081869 0.3006 Uncertain 7_16872913_G->A 7 16872913 16872913 G A snp 1152.77 0/1 99 83 33 50 0.6 intergenic rs4719482 AGR2 AU 0.483626 0.373 0.5884 0.3258 0 D 0.0 P -0.939 T Uncertain 7_16899197_C->T 7 16899197 16899197 C T snp 1120.77 1/1 78 47 0 47 1.0 UTR3 rs11798 AGR3 AU 0.617013 0.7411 0.593450 0.6429 0.7253 Uncertain 7_16901185_C->T 7 16901185 16901185 C T snp 515.77 1/1 39 16 0 16 1.0 intronic rs4236289 AGR3 AU NM_176813 exon3 c.1866+114C>T 0.982029 1 Uncertain 7_16913394_A->G 7 16913394 16913394 A G snp 2256.77 1/1 99 79 0 79 1.0 intronic rs10249749 AGR3 AU NM_176813 exon6 c.14198-9A>G 0.996006 1 0.994310 0.9986 1 Uncertain 7_16913520_G->A 7 16913520 16913520 G A snp 3427.77 1/1 99 133 0 133 1.0 intronic rs4472406 AGR3 AU NM_176813 exon6 c.14262+53G>A 0.904353 0.9335 0.931231 Uncertain 7_16913557_A->T 7 16913557 16913557 A T snp 1254.77 0/1 99 96 36 60 0.63 intronic rs2892833 AGR3 AU NM_176813 exon6 c.14262+90A>T 0.273163 0.3413 Uncertain 7_16913617_A->G 7 16913617 16913617 A G snp 712.77 1/1 54 18 0 18 1.0 intronic rs4389824 AGR3 AU NM_176813 exon6 c.14262+150A>G 0.904153 0.9335 Uncertain 7_16917989_A->T 7 16917989 16917989 A T snp 40.77 0/1 33 3 1 2 0.67 intronic rs2286212 AGR3 AU NM_176813 exon7 c.18928-144A>T 0.407748 0.3899 Uncertain 7_17373771_G->T 7 17373771 17373771 G T snp 1377.77 0/1 99 117 61 56 0.48 intronic rs2074113 AHR AU NM_001621 exon7 c.34850+33G>T 0.178514 0.3581 0.115059 0.1262 0.3611 Uncertain 7_17379110_G->A 7 17379110 17379110 G A snp 3266.77 0/1 99 250 134 116 0.46 exonic rs2066853 AHR AU nonsynonymous SNV NM_001621 exon10 c.G1661A p.R554K 0.270767 0.37 0.217361 0.1565 0.3667 1 T 0.0 P -0.899 T 0.0 T 0.001 T ID=CM005460;DIS=Higher induced CYP1A1 activity;TAG=FP;PUB=10739168 FP Pathogenic 7_17838851_C->T 7 17838851 17838851 C T snp 338.77 0/1 99 16 5 11 0.69 intronic rs2280629 SNX13 AU NM_015132 exon4 c.5109+74C>T 0.0587061 0.2044 Uncertain 7_17854532_G->T 7 17854532 17854532 G T snp 2235.77 1/1 99 83 1 82 0.99 exonic rs2723501 SNX13 AU synonymous SNV NM_015132 exon20 c.C1989A p.P663P 0.697684 0.7192 0.610803 0.6034 0.7214 Uncertain 7_17854575_-->AA 7 17854575 17854575 - AA indel 326.73 1/1 38 25 0 25 1.0 intronic rs34649849 SNX13 AU NM_015132 exon7 c.20899+8insAA 0.3606 0.4127 Uncertain 7_17854616_T->C 7 17854616 17854616 T C snp 262.8 1/1 21 9 0 9 1.0 intronic rs2723502 SNX13 AU NM_015132 exon7 c.20899+49T>C 0.644369 0.7183 0.551989 0.5733 0.6926 Uncertain 7_17890195_T->C 7 17890195 17890195 T C snp 50.74 1/1 6 2 0 2 1.0 intronic rs2691618 SNX13 AU NM_015132 exon16 c.56390+137T>C 0.642372 0.7123 Uncertain 7_17908130_T->A 7 17908130 17908130 T A snp 314.77 0/1 99 43 26 17 0.4 intronic rs2389858 SNX13 AU NM_015132 exon18 c.74445+17T>A 0.628994 0.5437 0.586710 0.5749 0.6163 Uncertain 7_17913083_-->C 7 17913083 17913083 - C indel 2423.73 1/1 99 58 0 58 1.0 intronic rs397740051 SNX13 AU NM_015132 exon19 c.79482-67insC 0.999201 0.997 Uncertain 7_17979793_G->A 7 17979793 17979793 G A snp 725.77 0/1 99 35 12 23 0.66 intronic rs3800963 SNX13 AU NM_015132 exon26 c.146238-113G>A 0.269169 0.3284 Uncertain 7_18067082_A->G 7 18067082 18067082 A G snp 3067.77 0/1 99 248 123 125 0.5 exonic rs3800961 PRPS1L1 AU synonymous SNV NM_175886 exon1 c.T324C p.S108S 0.0535144 0.1369 0.026142 0.0413 0.1239 Uncertain 7_18300132_C->T 7 18300132 18300132 C T snp 272.77 0/1 99 14 5 9 0.64 intergenic rs13240203 MIR1302-6 AU 0.324481 0.2738 0 . Uncertain 7_18630208_A->C 7 18630208 18630208 A C snp 289.77 0/1 99 35 22 13 0.37 intronic rs1726610 HDAC9 AU NM_001204145 exon4 c.94184+99A>C 0.711462 0.87 Uncertain 7_18630293_C->G 7 18630293 18630293 C G snp 46.77 0/1 33 3 1 2 0.67 intronic rs12669760 HDAC9 AU NM_001204145 exon4 c.94184+184C>G 0.115615 0.129 Uncertain 7_18631099_TG->- 7 18631099 18631100 TG - indel 1399.73 0/1 99 90 45 45 0.5 intronic rs36100341 HDAC9 AU NM_001204145 exon5 c.95213-39_95213-38delTG 0.4396 0.5441 Uncertain 7_18674435_T->C 7 18674435 18674435 T C snp 647.77 0/1 99 50 27 23 0.46 intronic rs2285431 HDAC9 AU NM_001204145 exon7 c.138440+70T>C 0.495208 0.4742 Uncertain 7_18688033_A->G 7 18688033 18688033 A G snp 314.77 0/1 99 26 16 10 0.38 intronic rs112491951 HDAC9 AU NM_001204145 exon10 c.152163-55A>G 0.26238 0.3214 Uncertain 7_18688033_-->TGTG 7 18688033 18688033 - TGTG indel 783.73 0/1 99 26 8 18 0.69 intronic rs145105320 HDAC9 AU NM_001204145 exon10 c.152163-55insTGTG Uncertain 7_18788589_T->C 7 18788589 18788589 T C snp 933.77 0/1 99 94 55 39 0.41 intronic rs1178164 HDAC9 AU NM_058176 exon13 c.252702-38T>C 0.447484 0.6429 0.313624 0.3140 0.6686 Uncertain 7_18806822_-->A 7 18806822 18806822 - A indel 114.73 0/1 99 22 10 12 0.55 intronic rs397738288 HDAC9 AU NM_058176 exon15 c.270853+44insA 0.22484 0.2351 0.123741 0.0962 0.1742 Uncertain 7_18914251_C->G 7 18914251 18914251 C G snp 1682.77 1/1 99 57 0 57 1.0 intronic rs2286213 HDAC9 AU NM_058176 exon21 c.378294+32C>G 0.415136 0.3343 0.365843 0.4349 0.3916 Uncertain 7_18993870_C->T 7 18993870 18993870 C T snp 451.77 1/1 33 17 0 17 1.0 exonic rs2389998 HDAC9 AU synonymous SNV NM_058176 exon23 c.C3030T p.F1010F 0.773562 0.7302 0.768747 0.7679 0.7279 Uncertain 7_19015263_T->G 7 19015263 19015263 T G snp 141.03 1/1 12 4 0 4 1.0 intergenic rs2189741 HDAC9 AU 0.815695 0.8532 Uncertain 7_20180426_AC->- 7 20180426 20180427 AC - indel 217.73 0/1 99 13 6 7 0.54 UTR3 rs10555255 MACC1 AU 0.367212 0.2232 Uncertain 7_20180507_-->AC 7 20180507 20180507 - AC indel 963.73 0/1 99 57 25 32 0.56 UTR3 rs397690486 MACC1 AU 0.488818 0.6508 Uncertain 7_20180717_C->G 7 20180717 20180717 C G snp 1470.77 0/1 99 135 72 63 0.47 exonic rs3735615 MACC1 AU nonsynonymous SNV NM_182762 exon7 c.G2411C p.R804T 0.603435 0.8194 0.523835 0.6045 0.8501 0.02 T 1.000 P -1.075 T 0.999 D 0.922 D Pathogenic 7_20198440_G->A 7 20198440 20198440 G A snp 2656.77 0/1 99 222 103 119 0.54 exonic rs975263 MACC1 AU nonsynonymous SNV NM_182762 exon5 c.C1544T p.S515L 0.425519 0.7837 0.255574 0.3389 0.8215 0.76 T 0.0 P -1.009 T 0.014 T 0.003 T Pathogenic 7_20201395_G->C 7 20201395 20201395 G C snp 2095.77 1/1 99 87 1 86 0.99 exonic rs4721888 MACC1 AU nonsynonymous SNV NM_182762 exon4 c.C91G p.L31V 0.114816 0.2917 0.059385 0.0942 0.2777 1 T 0.0 P -0.937 T 0.049 T 0.026 T Pathogenic 7_20371395_T->C 7 20371395 20371395 T C snp 337.78 1/1 27 11 0 11 1.0 UTR5 rs206197 ITGB8 AU 0.988419 1 0.981461 0.9745 1 Uncertain 7_20403354_T->- 7 20403354 20403354 T - indel 1025.73 0/1 99 81 23 58 0.72 intronic rs35420999 ITGB8 AU NM_002214 exon2 c.31916+9delT 0.73722 0.5526 0.7462 0.5965 Uncertain 7_20418678_C->T 7 20418678 20418678 C T snp 450.77 1/1 36 15 0 15 1.0 exonic rs3735619 ITGB8 AU synonymous SNV NM_002214 exon4 c.C393T p.A131A 0.160343 0.4107 0.101524 0.1265 0.4013 Uncertain 7_20418926_T->C 7 20418926 20418926 T C snp 4354.77 1/1 99 158 0 158 1.0 splicing rs1042277 ITGB8 AU NM_002214 exon4 c.47491+6T>C 0.335663 0.4147 0.411502 0.3981 0.4088 Pathogenic 7_20420270_T->A 7 20420270 20420270 T A snp 932.77 1/1 69 27 0 27 1.0 intronic rs17142761 ITGB8 AU NM_002214 exon5 c.48859-18T>A 0.154952 0.4048 0.097801 0.1161 0.4011 Uncertain 7_20421219_C->T 7 20421219 20421219 C T snp 216.84 1/1 18 6 0 6 1.0 intronic rs2301727 ITGB8 AU NM_002214 exon6 c.49920-130C>T 0.150759 0.3968 Uncertain 7_20421490_T->C 7 20421490 20421490 T C snp 4400.77 1/1 99 159 0 159 1.0 exonic rs2230398 ITGB8 AU synonymous SNV NM_002214 exon6 c.T942C p.Y314Y 0.336861 0.4097 0.409196 0.3882 0.4032 Uncertain 7_20430900_C->T 7 20430900 20430900 C T snp 349.78 1/1 27 10 0 10 1.0 intronic rs10227623 ITGB8 AU NM_002214 exon7 c.59596-125C>T 0.959465 0.9881 Uncertain 7_20438743_C->G 7 20438743 20438743 C G snp 473.77 1/1 36 13 0 13 1.0 intronic rs6945675 ITGB8 AU NM_002214 exon9 c.67188+126C>G 0.779952 0.9861 Uncertain 7_20444532_C->T 7 20444532 20444532 C T snp 1015.77 0/1 99 75 35 40 0.53 intronic rs2074424 ITGB8 AU NM_002214 exon11 c.73047+56C>T 0.792133 0.8254 Uncertain 7_20666235_G->C 7 20666235 20666235 G C snp 1536.77 1/1 99 61 0 61 1.0 splicing rs17143187 ABCB5 AU NM_001163941 exon3 c.3326+1G>C 0.146166 0.4544 0.008641 0.1114 0.5300 1.0 P ID=CS134364;DIS=Autism spectrum disorder;TAG=DM?;PUB=23352160 DM? Pathogenic 7_20685484_C->A 7 20685484 20685484 C A snp 4915.77 1/1 99 184 0 184 1.0 exonic rs2074000 ABCB5 AU nonsynonymous SNV NM_001163941 exon8 c.C784A p.Q262K 0.143171 0.4494 0.006408 0.0831 0.4914 0 D 1.0 P -1.296 T 0.99 D 0.981 D Pathogenic 7_20706645_G->T 7 20706645 20706645 G T snp 285.78 1/1 24 8 0 8 1.0 intronic rs12535128 ABCB5 AU NM_001163993 exon6 c.15336+264G>T 1 1 Uncertain 7_20762543_T->A 7 20762543 20762543 T A snp 93.28 1/1 9 3 0 3 1.0 intronic rs6948504 ABCB5 AU NM_001163941 exon21 c.99730-95T>A 0.795727 0.9028 Uncertain 7_20766943_C->G 7 20766943 20766943 C G snp 154.77 0/1 99 9 3 6 0.67 intronic rs11976861 ABCB5 AU NM_001163941 exon22 c.103855+180C>G 0.626597 0.7034 Uncertain 7_20768013_G->A 7 20768013 20768013 G A snp 2505.77 0/1 99 230 119 111 0.48 exonic rs10254317 ABCB5 AU synonymous SNV NM_001163941 exon23 c.G2802A p.A934A 0.596046 0.6905 0.521990 0.4891 0.6755 Uncertain 7_20778646_G->A 7 20778646 20778646 G A snp 2516.77 1/1 99 94 0 94 1.0 exonic rs6461515 ABCB5 AU nonsynonymous SNV NM_001163941 exon24 c.G2908A p.E970K 0.756789 0.8214 0.773797 0.8033 0.8195 0.14 T 0.521 P -0.975 T 0.066 T 0.046 T Pathogenic 7_20778773_C->G 7 20778773 20778773 C G snp 1925.77 1/1 99 68 0 68 1.0 intronic rs6461516 ABCB5 AU NM_001163941 exon24 c.115854+11C>G 0.800519 0.8482 0.819468 0.8290 0.8480 Uncertain 7_20778844_-->G 7 20778844 20778844 - G indel 406.73 0/1 99 31 12 19 0.61 intronic rs11380694 ABCB5 AU NM_001163941 exon24 c.115854+82insG 0.642772 0.7431 Uncertain 7_20782474_T->C 7 20782474 20782474 T C snp 627.77 1/1 48 19 0 19 1.0 intronic rs12669866 ABCB5 AU NM_001163941 exon25 c.119591-25T>C 0.543331 0.628 0.506997 0.5620 0.6447 Uncertain 7_20803107_-->C 7 20803107 20803107 - C indel 599.73 1/1 45 16 0 16 1.0 intergenic rs397693991 ABCB5 AU 0.9998 1 Uncertain 7_20824614_C->T 7 20824614 20824614 C T snp 3906.77 1/1 99 139 0 139 1.0 exonic rs34908430 SP8 AU synonymous SNV NM_182700 exon2 c.G822A p.S274S 0.269768 0.3958 0.193885 0.4253 0.5022 Uncertain 7_20826271_A->- 7 20826271 20826271 A - indel 48.73 0/1 86 27 19 8 0.3 intronic rs112554769 SP8 AU NM_182700 exon2 c.2488-125delA Uncertain 7_20826452_T->G 7 20826452 20826452 T G snp 3866.77 1/1 99 141 0 141 1.0 UTR5 rs34863300 SP8 AU 0.280351 0.3938 0.243657 0.3304 0.4054 Uncertain 7_21467812_A->C 7 21467812 21467812 A C snp 209.77 0/1 99 98 59 39 0.4 UTR5 SP4 AU Uncertain 7_21468579_G->A 7 21468579 21468579 G A snp 185.9 1/1 15 6 0 6 1.0 intronic rs39303 SP4 AU NM_003112 exon2 c.541+169G>A 0.506989 0.8452 Uncertain 7_21468870_CC->- 7 21468870 21468871 CC - indel 1662.73 1/1 99 43 0 43 1.0 intronic rs141294478 SP4 AU NM_003112 exon3 c.1037-36_1037-35delCC 0.643171 0.8383 0.6786 0.8707 Uncertain 7_21470513_T->C 7 21470513 21470513 T C snp 274.77 0/1 99 38 25 13 0.34 intronic rs39304 SP4 AU NM_003112 exon3 c.2592+52T>C 0.267971 0.2976 0.234186 0.2452 0.3361 Uncertain 7_21470536_A->T 7 21470536 21470536 A T snp 819.77 1/1 60 29 0 29 1.0 intronic rs40245 SP4 AU NM_003112 exon3 c.2592+75A>T 0.803714 0.9028 Uncertain 7_21583282_T->G 7 21583282 21583282 T G snp 2460.77 1/1 99 76 0 76 1.0 intronic rs2285945 DNAH11 AR NM_001277115 exon1 c.351+68T>G 0.357827 0.624 Uncertain 7_21599233_C->T 7 21599233 21599233 C T snp 920.77 0/1 99 74 38 36 0.49 exonic rs10950854 DNAH11 AR synonymous SNV NM_001277115 exon4 c.C705T p.N235N 0.542931 0.7183 0.453599 0.4683 0.7294 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_multiple_submitters\x2c_no_conflicts;CLNACC=RCV000079625.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 7_21600902_A->G 7 21600902 21600902 A G snp 495.77 0/1 99 46 28 18 0.39 intronic rs4374884 DNAH11 AR NM_001277115 exon5 c.17925+114A>G 0.327676 0.5198 Uncertain 7_21603678_A->G 7 21603678 21603678 A G snp 81.77 0/1 99 14 8 6 0.43 intronic rs5008148 DNAH11 AR NM_001277115 exon6 c.20940-125A>G 0.359026 0.5466 Uncertain 7_21609625_C->T 7 21609625 21609625 C T snp 1021.77 0/1 99 84 37 47 0.56 intronic rs56832849 DNAH11 AR NM_001277115 exon7 c.26823-61C>T 0.0966454 0.1954 Uncertain 7_21611399_G->C 7 21611399 21611399 G C snp 327.77 0/1 99 52 36 16 0.31 intronic rs66476925 DNAH11 AR NM_001277115 exon8 c.28560-24G>C 0.133187 0.2113 0.163424 0.1747 0.2254 Uncertain 7_21627909_A->G 7 21627909 21627909 A G snp 423.77 0/1 99 22 8 14 0.64 intronic rs3810897 DNAH11 AR NM_001277115 exon10 c.44956+90A>G 0.203674 0.499 Uncertain 7_21628237_C->T 7 21628237 21628237 C T snp 5601.77 1/1 99 196 0 196 1.0 exonic rs6963535 DNAH11 AR synonymous SNV NM_001277115 exon11 c.C1956T p.F652F 0.990615 1 0.990130 0.9904 1 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000150428.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 7_21630982_A->G 7 21630982 21630982 A G snp 1109.77 0/1 99 106 55 51 0.48 exonic rs4615458 DNAH11 AR synonymous SNV NM_001277115 exon14 c.A2454G p.A818A 0.530351 0.749 0.434604 0.4348 0.7725 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_multiple_submitters\x2c_no_conflicts;CLNACC=RCV000079616.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 7_21639818_T->C 7 21639818 21639818 T C snp 70.77 0/1 99 12 8 4 0.33 intronic rs6461586 DNAH11 AR NM_001277115 exon15 c.56874+81T>C 0.766174 0.8065 Uncertain 7_21640405_A->G 7 21640405 21640405 A G snp 3204.83 0/1 99 250 122 128 0.51 exonic rs10224537 DNAH11 AR nonsynonymous SNV NM_001277115 exon16 c.A3112G p.T1038A 0.767772 0.8056 0.815293 0.7887 0.8035 0.61 T 0.0 P -1.040 T 0.0 T 0.0 T CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000150431.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 7_21641218_G->A 7 21641218 21641218 G A snp 1209.77 0/1 99 113 57 56 0.5 exonic rs3827657 DNAH11 AR synonymous SNV NM_001277115 exon18 c.G3630A p.Q1210Q 0.753794 0.7827 0.800666 0.7847 0.7850 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000150433.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 7_21654602_C->T 7 21654602 21654602 C T snp 386.77 0/1 99 39 23 16 0.41 intronic rs7779983 DNAH11 AR NM_001277115 exon21 c.71868-129C>T 0.589257 0.7679 Uncertain 7_21657130_C->G 7 21657130 21657130 C G snp 191.77 0/1 99 17 10 7 0.41 intronic rs12539987 DNAH11 AR NM_001277115 exon23 c.74373-106C>G 0.632987 0.7569 Uncertain 7_21658855_A->G 7 21658855 21658855 A G snp 1918.77 0/1 99 158 78 80 0.51 intronic rs57208694 DNAH11 AR NM_001277115 exon24 c.75977+15A>G 0.561901 0.7867 0.512611 0.4890 0.7904 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_multiple_submitters\x2c_no_conflicts;CLNACC=RCV000079619.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 7_21658964_C->T 7 21658964 21658964 C T snp 586.77 0/1 99 49 28 21 0.43 intronic rs68184450 DNAH11 AR NM_001277115 exon24 c.75977+124C>T 0.506589 0.7381 Uncertain 7_21659554_-->TTAAT 7 21659554 21659554 - TTAAT indel 2963.73 0/1 99 98 56 42 0.43 intronic rs112373177 DNAH11 AR NM_001277115 exon25 c.76710-19insTTAAT 0.510184 0.754 0.435401 0.4250 0.7415 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000079620.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 7_21659645_T->C 7 21659645 21659645 T C snp 1649.77 0/1 99 143 65 78 0.55 exonic rs56029521 DNAH11 AR synonymous SNV NM_001277115 exon25 c.T4449C p.I1483I 0.423323 0.6954 0.398606 0.3959 0.6824 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_multiple_submitters\x2c_no_conflicts;CLNACC=RCV000079622.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 7_21695416_A->G 7 21695416 21695416 A G snp 1490.77 0/1 99 91 39 52 0.57 intronic rs11769118 DNAH11 AR NM_001277115 exon29 c.112586-33A>G 0.295727 0.2232 0.377597 0.4443 0.2886 Uncertain 7_21695649_G->A 7 21695649 21695649 G A snp 1550.77 0/1 99 125 58 67 0.54 intronic rs4385378 DNAH11 AR NM_001277115 exon29 c.112736+50G>A 0.596046 0.6171 0.553467 0.5936 0.6346 Uncertain 7_21757287_T->C 7 21757287 21757287 T C snp 504.77 1/1 39 14 0 14 1.0 intronic rs2965409 DNAH11 AR NM_001277115 exon43 c.174529-105T>C 0.739018 0.8522 Uncertain 7_21757636_G->A 7 21757636 21757636 G A snp 1700.77 1/1 99 54 0 54 1.0 intronic rs2074760 DNAH11 AR NM_001277115 exon43 c.174680+93G>A 0.634784 0.6032 Uncertain 7_21757690_G->A 7 21757690 21757690 G A snp 254.8 1/1 21 9 0 9 1.0 intronic rs2240471 DNAH11 AR NM_001277115 exon43 c.174680+147G>A 0.294928 0.1845 Uncertain 7_21765452_C->T 7 21765452 21765452 C T snp 4736.77 1/1 99 169 1 168 0.99 exonic rs12536928 DNAH11 AR synonymous SNV NM_001277115 exon45 c.C7290T p.F2430F 0.362819 0.2004 0.438834 0.4788 0.2203 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_multiple_submitters\x2c_no_conflicts;CLNACC=RCV000079626.4;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 7_21765636_T->C 7 21765636 21765636 T C snp 1654.77 1/1 99 47 0 47 1.0 intronic rs2965424 DNAH11 AR NM_001277115 exon45 c.182739+34T>C 0.863019 0.8601 0.875205 0.8426 0.8982 Uncertain 7_21775153_A->C 7 21775153 21775153 A C snp 231.77 0/1 99 12 4 8 0.67 intronic rs2072219 DNAH11 AR NM_001277115 exon46 c.192394-104A>C 0.897963 0.8601 Uncertain 7_21775210_A->G 7 21775210 21775210 A G snp 2171.77 1/1 99 66 0 66 1.0 intronic rs2270022 DNAH11 AR NM_001277115 exon46 c.192394-47A>G 0.758187 0.5397 0.854084 0.8206 0.5352 Uncertain 7_21775443_G->A 7 21775443 21775443 G A snp 6627.77 1/1 99 243 0 243 1.0 exonic rs2072221 DNAH11 AR synonymous SNV NM_001277115 exon46 c.G7626A p.T2542T 0.755391 0.5327 0.857496 0.8234 0.5236 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000150441.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 7_21778449_C->T 7 21778449 21778449 C T snp 1307.77 0/1 99 133 70 63 0.47 exonic rs1109806 DNAH11 AR synonymous SNV NM_001277115 exon47 c.C7776T p.H2592H 0.539537 0.244 0.664758 0.6409 0.2519 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000150443.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 7_21779084_G->A 7 21779084 21779084 G A snp 260.77 0/1 99 19 9 10 0.53 intronic rs2906686 DNAH11 AR NM_001277115 exon48 c.196325-104G>A 0.64377 0.5972 Uncertain 7_21779104_C->T 7 21779104 21779104 C T snp 497.77 0/1 99 38 19 19 0.5 intronic rs933353 DNAH11 AR NM_001277115 exon48 c.196325-84C>T 0.519369 0.7956 Uncertain 7_21779278_A->G 7 21779278 21779278 A G snp 1542.77 0/1 99 152 85 67 0.44 exonic rs9639393 DNAH11 AR nonsynonymous SNV NM_001277115 exon48 c.A7901G p.N2634S 0.372804 0.0813 0.531379 0.5341 0.0625 0.64 T 0.983 P -0.975 T CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000150444.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 7_21789442_T->C 7 21789442 21789442 T C snp 2985.77 0/1 99 203 86 117 0.58 intronic rs4355679 DNAH11 AR NM_001277115 exon53 c.206556+23T>C 0.435503 0.1429 0.595669 0.5825 0.1355 Uncertain 7_21813318_-->T 7 21813318 21813318 - T indel 1074.73 1/1 99 36 0 36 1.0 intronic rs11374411 DNAH11 AR NM_001277115 exon56 c.230520-65insT 0.904153 0.751 Uncertain 7_21818486_A->G 7 21818486 21818486 A G snp 475.77 1/1 36 15 0 15 1.0 intronic rs4273751 DNAH11 AR NM_001277115 exon57 c.235712-89A>G 0.730631 0.8333 Uncertain 7_21818850_A->G 7 21818850 21818850 A G snp 46.77 0/1 33 4 1 3 0.75 intronic rs2074330 DNAH11 AR NM_001277115 exon57 c.235859+128A>G 0.145367 0.3403 Uncertain 7_21826199_G->C 7 21826199 21826199 G C snp 520.77 1/1 39 13 0 13 1.0 intronic rs2072093 DNAH11 AR NM_001277115 exon59 c.243378-42G>C 0.488219 0.7411 0.370087 0.4090 0.7536 Uncertain 7_21827358_A->G 7 21827358 21827358 A G snp 149.77 0/1 99 13 7 6 0.46 intronic rs80026358 DNAH11 AR NM_001277115 exon60 c.244338+157A>G 0.0499201 0.2083 Uncertain 7_21828743_-->A 7 21828743 21828743 - A indel 161.73 0/1 99 20 12 8 0.4 intronic rs11412202 DNAH11 AR NM_001277115 exon61 c.245995-115insA 0.218051 0.2292 Uncertain 7_21847457_A->G 7 21847457 21847457 A G snp 507.77 1/1 39 17 0 17 1.0 intronic rs6969900 DNAH11 AR NM_001277115 exon63 c.264637-43A>G 0.569089 0.8155 0.426988 0.4550 0.8261 Uncertain 7_21856151_G->A 7 21856151 21856151 G A snp 3525.77 1/1 99 128 2 126 0.98 exonic rs2214326 DNAH11 AR nonsynonymous SNV NM_001277115 exon64 c.G10399A p.A3467T 0.484225 0.8085 0.347727 0.4297 0.8241 0.47 T 0.0 P -0.934 T 0.001 T 0.006 T CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_multiple_submitters\x2c_no_conflicts;CLNACC=RCV000155492.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 7_21856390_G->A 7 21856390 21856390 G A snp 1609.77 1/1 99 48 0 48 1.0 intronic rs4141347 DNAH11 AR NM_001277115 exon64 c.273457+70G>A 0.502995 0.8095 Uncertain 7_21858043_A->G 7 21858043 21858043 A G snp 462.77 1/1 36 13 0 13 1.0 intronic rs10277757 DNAH11 AR NM_001277115 exon65 c.275094+86A>G 0.510583 0.8006 Uncertain 7_21901566_T->C 7 21901566 21901566 T C snp 724.77 0/1 99 60 30 30 0.5 exonic rs4722067 DNAH11 AR synonymous SNV NM_001277115 exon69 c.T11298C p.H3766H 0.634385 0.5367 0.757706 0.7255 0.5326 0.999 P -1.031 T CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000150457.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Likely benign 7_21901593_G->A 7 21901593 21901593 G A snp 664.77 0/1 99 59 27 32 0.54 exonic rs12666072 DNAH11 AR synonymous SNV NM_001277115 exon69 c.G11325A p.A3775A 0.0938498 0.2044 0.033601 0.0883 0.2279 0.11 T 1.000 P -1.109 T CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000150458.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Likely benign 7_21905977_T->C 7 21905977 21905977 T C snp 44.77 0/1 33 3 1 2 0.67 intronic rs12700317 DNAH11 AR NM_001277115 exon71 c.323224-110T>C 0.741414 0.5724 Uncertain 7_21907452_-->T 7 21907452 21907452 - T indel 779.73 0/1 99 60 31 29 0.48 intronic rs55692559 DNAH11 AR NM_001277115 exon72 c.324613-24insT 0.033746 0.613914 0.6045 0.4320 Uncertain 7_21907458_A->G 7 21907458 21907458 A G snp 707.77 0/1 99 60 31 29 0.48 intronic rs4995598 DNAH11 AR NM_001277115 exon72 c.324613-18A>G 0.436901 0.3413 0.6278 0.4598 Uncertain 7_21907637_G->C 7 21907637 21907637 G C snp 685.77 0/1 99 37 8 29 0.78 intronic rs148063720 DNAH11 AR NM_001277115 exon72 c.324762+12G>C 0.00159744 0.004 0.0010 0.0165 Uncertain 7_21923867_C->G 7 21923867 21923867 C G snp 43.77 0/1 72 5 3 2 0.4 intronic rs4439007 DNAH11 AR NM_001277115 exon76 c.341045-41C>G 0.46845 0.5655 0.469615 0.5361 0.5651 Uncertain 7_21924014_A->G 7 21924014 21924014 A G snp 602.77 0/1 99 42 14 28 0.67 exonic rs6461613 DNAH11 AR nonsynonymous SNV NM_001277115 exon76 c.A12493G p.M4165V 0.622404 0.6617 0.716747 0.7558 0.6806 0.09 T 1.000 P -1.147 T 0.716 T 0.268 P CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000155495.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 7_21938951_C->T 7 21938951 21938951 C T snp 898.77 0/1 99 108 64 44 0.41 splicing DNAH11 AR NM_001277115 exon80 c.356090-2C>T Pathogenic 7_21939032_C->A 7 21939032 21939032 C A snp 744.77 0/1 99 93 59 34 0.37 exonic rs56333627 DNAH11 AR synonymous SNV NM_001277115 exon80 c.C13128A p.L4376L 0.19349 0.1558 0.254081 0.2751 0.1683 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000155499.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 7_21939089_C->A 7 21939089 21939089 C A snp 327.77 0/1 99 45 29 16 0.36 intronic rs55714084 DNAH11 AR NM_001277115 exon80 c.356203+23C>A 0.186901 0.1121 0.268538 0.2793 0.1103 Uncertain 7_21940558_ACTT->- 7 21940558 21940561 ACTT - indel 1669.73 0/1 99 47 20 27 0.57 UTR3 rs10555456 CDCA7L AU 0.767971 0.7312 Uncertain 7_21940960_A->G 7 21940960 21940960 A G snp 200.77 0/1 60 9 3 6 0.67 UTR3 rs7971 CDCA7L AU 0.215455 0.1677 Uncertain 7_21941862_TCTT->- 7 21941862 21941865 TCTT - indel 1680.73 0/1 99 59 31 28 0.47 UTR3 CDCA7L AU 0.790328 Uncertain 7_21956405_G->A 7 21956405 21956405 G A snp 2152.77 0/1 99 168 77 91 0.54 exonic rs1128250 CDCA7L AU synonymous SNV NM_018719 exon2 c.C132T p.C44C 0.309105 0.5784 0.167538 0.2668 0.5563 Uncertain 7_21985262_T->C 7 21985262 21985262 T C snp 646.77 0/1 99 51 23 28 0.55 intronic rs76533925 CDCA7L AU NM_001127370 exon11 c.43459-136T>C 0.0585064 0.0863 Uncertain 7_21985347_G->A 7 21985347 21985347 G A snp 710.77 0/1 99 107 69 38 0.36 intronic rs1406706 CDCA7L AU NM_001127370 exon11 c.43459-51G>A 0.93111 0.9137 0.955014 Uncertain 7_22165180_G->A 7 22165180 22165180 G A snp 863.77 0/1 99 57 24 33 0.58 intronic rs2302000 RAPGEF5 AU NM_012294 exon2 c.3198-41G>A 0.148762 0.3204 0.070993 0.1117 0.2920 Uncertain 7_22197507_A->G 7 22197507 22197507 A G snp 2948.77 1/1 99 110 0 110 1.0 splicing rs7809342 RAPGEF5 AU NM_012294 exon12 c.35480+4A>G 0.978435 0.9921 0.977498 0.9761 0.9941 Pathogenic 7_22200255_G->C 7 22200255 22200255 G C snp 1132.77 0/1 99 129 75 54 0.42 intronic rs955484 RAPGEF5 AU NM_012294 exon13 c.38210+22G>C 0.41254 0.4345 0.331912 0.3803 0.4789 Uncertain 7_22201956_A->G 7 22201956 22201956 A G snp 433.77 0/1 99 30 15 15 0.5 intronic rs73079618 RAPGEF5 AU NM_012294 exon14 c.39991-58A>G 0.0519169 0.0476 Uncertain 7_22202117_G->A 7 22202117 22202117 G A snp 1665.77 0/1 99 154 77 77 0.5 exonic rs12592 RAPGEF5 AU synonymous SNV NM_012294 exon13 c.C867T p.D289D 0.594249 0.6062 0.584430 0.5594 0.6131 Uncertain 7_22202196_T->A 7 22202196 22202196 T A snp 596.77 0/1 99 46 24 22 0.48 intronic rs1981600 RAPGEF5 AU NM_012294 exon14 c.40136+37T>A 0.290535 0.2996 0.319098 0.3620 0.3389 Uncertain 7_22202485_T->C 7 22202485 22202485 T C snp 3159.77 1/1 99 122 0 122 1.0 intronic rs1981601 RAPGEF5 AU NM_012294 exon14 c.40136+326T>C 0.61262 0.6617 Uncertain 7_22242370_G->T 7 22242370 22242370 G T snp 1078.77 1/1 78 38 0 38 1.0 intronic rs4722110 RAPGEF5 AU NM_012294 exon17 c.71628+8719G>T 0.947484 0.9911 Uncertain 7_22242535_T->C 7 22242535 22242535 T C snp 702.77 0/1 99 70 37 33 0.47 intronic rs4719687 RAPGEF5 AU NM_012294 exon17 c.71628+8884T>C 0.530751 0.5903 0.538923 0.5502 0.6456 Uncertain 7_22259670_C->A 7 22259670 22259670 C A snp 2590.77 0/1 99 237 121 116 0.49 intronic rs1859807 RAPGEF5 AU NM_012294 exon18 c.97587+60C>A 0.152556 0.0724 0.2979 0.1174 Uncertain 7_22357716_T->G 7 22357716 22357716 T G snp 74.77 0/1 69 7 2 5 0.71 intronic rs10950897 RAPGEF5 AU NM_012294 exon25 c.195633+60T>G 0.688698 0.8552 Uncertain 7_22532260_A->G 7 22532260 22532260 A G snp 2741.77 0/1 99 250 137 113 0.45 exonic rs16881817 STEAP1B AU nonsynonymous SNV NM_001164460 exon4 c.T686C p.I229T 0.342452 0.4236 0.293254 0.3030 0.3969 0.09 T 0.001 P -1.164 T 0.967 D 0.692 D Pathogenic 7_22533452_C->T 7 22533452 22533452 C T snp 1670.77 0/1 99 150 82 68 0.45 exonic rs201338533 STEAP1B AU nonsynonymous SNV NM_001164460 exon3 c.G88A p.E30K 0.5171 0.4995 0.0 P -0.942 T 0.0 T 0.001 T Pathogenic 7_22539581_C->G 7 22539581 22539581 C G snp 176.9 1/1 15 5 0 5 1.0 intronic rs6461649 STEAP1B AU NM_001164460 exon5 c.61625-151C>G 0.938498 0.9861 Uncertain 7_22768572_C->G 7 22768572 22768572 C G snp 936.77 0/1 99 45 16 29 0.64 intronic rs2069840 IL6 AR,AD,AO,AU NM_000600 exon3 c.1544+147C>G 0.185503 0.0625 Uncertain 7_22857305_G->A 7 22857305 22857305 G A snp 256.77 0/1 99 32 20 12 0.38 intronic rs75569325 TOMM7 AU NM_019059 exon2 c.4830-313G>A 0.0421326 0.0089 Uncertain 7_22857477_T->C 7 22857477 22857477 T C snp 597.77 1/1 45 21 0 21 1.0 intronic rs2286499 TOMM7 AU NM_019059 exon2 c.4830-141T>C 0.601438 0.7976 Uncertain 7_22857504_T->C 7 22857504 22857504 T C snp 815.77 1/1 60 30 0 30 1.0 intronic rs2286498 TOMM7 AU NM_019059 exon2 c.4830-114T>C 0.601438 0.7976 Uncertain 7_22857589_T->C 7 22857589 22857589 T C snp 983.77 1/1 69 39 0 39 1.0 intronic rs7782015 TOMM7 AU NM_019059 exon2 c.4830-29T>C 0.784545 0.9901 0.703752 0.6887 0.9936 Uncertain 7_22861639_C->A 7 22861639 22861639 C A snp 224.77 0/1 99 15 7 8 0.53 intronic rs981792 TOMM7 AU NM_019059 exon3 c.9507-656C>A 0.524361 0.6528 Uncertain 7_22861978_G->A 7 22861978 22861978 G A snp 568.77 0/1 99 31 11 20 0.65 intronic rs4354222 TOMM7 AU NM_019059 exon3 c.9507-317G>A 0.708666 0.8452 Uncertain 7_22862131_A->C 7 22862131 22862131 A C snp 422.77 0/1 99 34 19 15 0.44 intronic rs2270108 TOMM7 AU NM_019059 exon3 c.9507-164A>C 0.523962 0.6528 Uncertain 7_22862183_G->A 7 22862183 22862183 G A snp 966.77 0/1 99 102 62 40 0.39 intronic rs2270107 TOMM7 AU NM_019059 exon3 c.9507-112G>A 0.523762 0.6528 Uncertain 7_22862192_A->G 7 22862192 22862192 A G snp 1093.77 0/1 99 125 79 46 0.37 intronic rs2270106 TOMM7 AU NM_019059 exon3 c.9507-103A>G 0.714657 0.8452 Uncertain 7_22862467_G->A 7 22862467 22862467 G A snp 131.77 0/1 99 17 12 5 0.29 UTR5 rs2270105 TOMM7 AU 0.523762 0.6528 Uncertain 7_22896087_AAA->- 7 22896087 22896089 AAA - indel 276.73 0/1 99 14 8 6 0.43 upstream rs58988088 SNORD93 AU 0.0994409 0.1379 Uncertain 7_22896231_G->C 7 22896231 22896231 G C snp 4075.77 1/1 99 153 0 153 1.0 upstream rs1608553 SNORD93 AU 0.759784 0.7758 0.648587 0.6682 0.7799 Uncertain 7_22896341_C->- 7 22896341 22896341 C - indel 3889.73 1/1 99 136 0 136 1.0 downstream rs5882865 SNORD93 AU 0.639377 0.745 0.5995 0.7901 Uncertain 7_22896342_C->A 7 22896342 22896342 C A snp 164.77 0/1 99 133 115 18 0.14 downstream rs61137023 SNORD93 AU 0.0068 0 Uncertain 7_22896343_C->A 7 22896343 22896343 C A snp 2929.77 0/1 99 132 17 115 0.87 downstream rs115918007 SNORD93 AU 0.421925 0.5873 0.2821 0.6374 Uncertain 7_22896363_G->C 7 22896363 22896363 G C snp 3143.77 1/1 99 110 0 110 1.0 downstream rs1608552 SNORD93 AU 0.423722 0.5913 Uncertain 7_22986448_A->G 7 22986448 22986448 A G snp 99.28 1/1 9 3 0 3 1.0 intronic rs722699 FAM126A AR NM_032581 exon1 c.575+666A>G 0.991214 1 Uncertain 7_23164526_C->G 7 23164526 23164526 C G snp 2338.77 1/1 99 81 0 81 1.0 intronic rs2058275 KLHL7 AU,AD NM_018846 exon3 c.981+126C>G 0.937101 0.8512 0.9379 0.8476 0.16 T 0.0 P Uncertain 7_23195556_TTTAT->- 7 23195556 23195560 TTTAT - indel 3056.73 1/1 99 41 0 41 1.0 intronic rs141774430 KLHL7 AU,AD NM_018846 exon7 c.28409+3728_28409+3732delTTTAT 0.919129 0.9871 Uncertain 7_23286284_A->G 7 23286284 23286284 A G snp 120.77 0/1 66 6 2 4 0.67 upstream rs17147940 GPNMB AU 0.0585064 0.128 Uncertain 7_23286315_G->A 7 23286315 23286315 G A snp 267.77 0/1 99 15 7 8 0.53 upstream rs858239 GPNMB AU 0.510783 0.2569 0.4752 0.3506 Uncertain 7_23286355_-->T 7 23286355 23286355 - T indel 504.73 0/1 99 31 16 15 0.48 UTR5 rs17524853 GPNMB AU 0.0585064 0.128 0.0424 0.2299 Uncertain 7_23286525_T->C 7 23286525 23286525 T C snp 1799.77 0/1 99 153 75 78 0.51 exonic rs35519567 GPNMB AU synonymous SNV NM_001005340 exon1 c.T49C p.L17L 0.0585064 0.128 0.033600 0.0199 0.1211 ID=COSM150248;OCCURENCE=1(stomach) Uncertain 7_23286614_A->G 7 23286614 23286614 A G snp 963.77 0/1 99 73 37 36 0.49 intronic rs17147944 GPNMB AU NM_002510 exon1 c.70+68A>G 0.0585064 0.128 Uncertain 7_23286655_T->A 7 23286655 23286655 T A snp 515.77 0/1 99 36 18 18 0.5 intronic rs75030519 GPNMB AU NM_002510 exon1 c.70+109T>A 0.0662939 0.129 Uncertain 7_23293746_A->G 7 23293746 23293746 A G snp 444.77 0/1 99 73 51 22 0.3 intronic rs199347 GPNMB AU NM_002510 exon3 c.7311-41A>G 0.516773 0.2837 0.562817 0.4222 0.2779 Uncertain 7_23296796_C->A 7 23296796 23296796 C A snp 537.77 0/1 99 40 19 21 0.53 intronic rs74606744 GPNMB AU NM_002510 exon4 c.10208+112C>A 0.0579073 0.128 0.0211 0.1274 Uncertain 7_23300049_A->C 7 23300049 23300049 A C snp 1235.77 0/1 99 90 41 49 0.54 intronic rs199351 GPNMB AU NM_002510 exon6 c.13598-25A>C 0.53135 0.3532 0.563817 0.4314 0.3422 Uncertain 7_23300255_C->T 7 23300255 23300255 C T snp 3311.77 0/1 99 249 126 123 0.49 exonic rs35499907 GPNMB AU nonsynonymous SNV NM_001005340 exon6 c.C881T p.S294F 0.0393371 0.13 0.008919 0.0123 0.1208 0 D 0.988 D -0.785 T 1.0 D 1.0 D Pathogenic 7_23306020_T->C 7 23306020 23306020 T C snp 294.77 0/1 99 19 9 10 0.53 intronic rs156429 GPNMB AU NM_001005340 exon7 c.19623-79T>C 0.508986 0.252 Uncertain 7_23307635_TGGG->- 7 23307635 23307638 TGGG - indel 2037.73 0/1 99 88 41 47 0.53 intronic rs10560802 GPNMB AU NM_002510 exon8 c.21131+28_21131+31delTGGG 0.457268 0.251 0.487220 0.3925 0.2535 Uncertain 7_23313171_T->C 7 23313171 23313171 T C snp 2999.77 0/1 99 233 106 127 0.55 exonic rs2268748 GPNMB AU synonymous SNV NM_001005340 exon10 c.T1497C p.S499S 0.138379 0.3641 0.030063 0.0982 0.3880 Uncertain 7_23347398_C->A 7 23347398 23347398 C A snp 333.77 0/1 99 52 36 16 0.31 intronic rs112007740 MALSU1 AU NM_138446 exon3 c.8515-88C>A Uncertain 7_23347402_C->A 7 23347402 23347402 C A snp 305.77 0/1 99 57 41 16 0.28 intronic rs539717210 MALSU1 AU NM_138446 exon3 c.8515-84C>A 0.157548 0.1429 Uncertain 7_23347405_A->C 7 23347405 23347405 A C snp 68.77 0/1 97 61 50 11 0.18 intronic MALSU1 AU NM_138446 exon3 c.8515-81A>C Uncertain 7_23347410_C->A 7 23347410 23347410 C A snp 447.77 0/1 99 67 45 22 0.33 intronic rs113940798 MALSU1 AU NM_138446 exon3 c.8515-76C>A Uncertain 7_23352512_C->A 7 23352512 23352512 C A snp 2032.77 1/1 99 74 0 74 1.0 intronic rs199653 IGF2BP3 AU NM_006547 exon2 c.487+45C>A 0.976637 1 0.952945 0.9542 0.9994 Uncertain 7_23357321_C->T 7 23357321 23357321 C T snp 1679.77 0/1 99 120 52 68 0.57 exonic rs156414 IGF2BP3 AU synonymous SNV NM_006547 exon12 c.G1332A p.A444A 0.244609 0.3671 0.299016 0.3330 0.3563 Uncertain 7_23624570_G->C 7 23624570 23624570 G C snp 227.77 0/1 99 23 13 10 0.43 ncRNA_exonic rs227933 CLK2P1 AU Uncertain 7_23624887_G->A 7 23624887 23624887 G A snp 1835.77 0/1 99 152 74 78 0.51 ncRNA_exonic rs73077128 CLK2P1 AU 0.0199681 0.0407 0.0153 0.0613 ID=COSN167992;OCCURENCE=1(NS),1(large_intestine) Uncertain 7_23719672_A->G 7 23719672 23719672 A G snp 33.77 0/1 62 6 4 2 0.33 upstream rs369903485 FAM221A AU 0.00579073 0.0278 Uncertain 7_23719766_G->A 7 23719766 23719766 G A snp 794.77 0/1 99 65 30 35 0.54 UTR5 rs56391241 FAM221A AU 0.470647 0.6091 Uncertain 7_23719779_G->A 7 23719779 23719779 G A snp 945.77 0/1 99 77 34 43 0.56 UTR5 rs56359038 FAM221A AU 0.486222 0.6121 Uncertain 7_23737795_T->C 7 23737795 23737795 T C snp 1380.77 0/1 99 92 36 56 0.61 intronic rs5029444 FAM221A AU NM_199136 exon5 c.17973-15T>C 0.489816 0.6181 0.435558 0.5295 0.5927 Uncertain 7_23749832_G->T 7 23749832 23749832 G T snp 154.77 0/1 99 12 4 8 0.67 UTR5 rs3807888 STK31 AU 0.143371 0.2113 0.136224 Uncertain 7_23751736_A->G 7 23751736 23751736 A G snp 732.77 0/1 99 42 19 23 0.55 exonic rs7779633 STK31 AU synonymous SNV NM_001260505 exon2 c.A69G p.Q23Q 0.384984 0.3571 0.382054 0.3507 0.3776 Uncertain 7_23757012_TTTAAG->- 7 23757012 23757017 TTTAAG - indel 377.73 0/1 99 9 4 5 0.56 intronic rs138454658 STK31 AU NM_031414 exon4 c.7195-87_7195-82delTTTAAG Uncertain 7_23757162_G->C 7 23757162 23757162 G C snp 1439.77 0/1 99 128 60 68 0.53 exonic rs6945306 STK31 AU nonsynonymous SNV NM_001260504 exon4 c.G144C p.Q48H 0.247809 0.2945 0.4104 0.31 T 0.000 P -0.903 T 0.001 T 0.005 T Pathogenic 7_23757260_T->G 7 23757260 23757260 T G snp 914.77 0/1 99 80 40 40 0.5 intronic rs2058995 STK31 AU NM_031414 exon4 c.7294+62T>G 0.26857 0.2202 Uncertain 7_23768907_A->G 7 23768907 23768907 A G snp 125.78 0/1 27 6 1 5 0.83 intronic rs12176610 STK31 AU NM_031414 exon6 c.18964+39A>G 0.232228 0.3968 0.195124 0.2692 0.4103 Uncertain 7_23793882_C->T 7 23793882 23793882 C T snp 1001.77 0/1 99 53 17 36 0.68 intronic rs12532929 STK31 AU NM_031414 exon10 c.44029-51C>T 0.134585 0.2123 0.158702 Uncertain 7_23808604_C->A 7 23808604 23808604 C A snp 437.77 0/1 36 18 2 16 0.89 intronic rs61564984 STK31 AU NM_031414 exon12 c.58709-9C>A 0.279752 0.3998 0.250808 0.2973 0.4151 Uncertain 7_23810517_G->A 7 23810517 23810517 G A snp 211.84 1/1 18 6 0 6 1.0 intronic rs7785154 STK31 AU NM_031414 exon14 c.60719-106G>A 0.977436 1 Uncertain 7_23810523_C->G 7 23810523 23810523 C G snp 80.77 0/1 99 6 3 3 0.5 intronic rs41273996 STK31 AU NM_031414 exon14 c.60719-100C>G 0.264177 0.3948 Uncertain 7_23810845_G->A 7 23810845 23810845 G A snp 99.28 1/1 9 3 0 3 1.0 intronic rs1469001 STK31 AU NM_031414 exon14 c.60839+102G>A 0.969249 1 Uncertain 7_23823144_A->G 7 23823144 23823144 A G snp 1092.77 1/1 81 32 0 32 1.0 intronic rs10950961 STK31 AU NM_031414 exon17 c.73297-57A>G 0.474641 0.5129 0.473500 Uncertain 7_23826066_A->G 7 23826066 23826066 A G snp 1980.77 1/1 99 66 0 66 1.0 intronic rs1862068 STK31 AU NM_031414 exon19 c.76222-60A>G 0.977436 1 Uncertain 7_23854717_C->T 7 23854717 23854717 C T snp 361.77 0/1 99 29 14 15 0.52 intronic rs2390814 STK31 AU NM_031414 exon23 c.104858-45C>T 0.761581 0.6062 0.799523 0.7358 0.5983 Uncertain 7_23943962_G->A 7 23943962 23943962 G A snp 151.77 0/1 99 9 4 5 0.56 intergenic rs58386159 STK31 AU 0.360423 0.6141 Uncertain 7_24324759_T->G 7 24324759 24324759 T G snp 1699.77 1/1 99 57 0 57 1.0 intronic rs16141 NPY AU 0.512979 0.6558 Uncertain 7_24325009_G->A 7 24325009 24325009 G A snp 4976.77 1/1 99 182 0 182 1.0 exonic rs5573 NPY AU synonymous SNV NM_000905 exon2 c.G150A p.S50S 0.513978 0.6379 0.457097 0.5303 0.6555 Uncertain 7_24703298_G->A 7 24703298 24703298 G A snp 769.77 0/1 99 69 34 35 0.51 exonic rs1053962 MPP6 AU synonymous SNV NM_016447 exon7 c.G741A p.E247E 0.645567 0.7996 0.494233 0.4546 0.8106 Uncertain 7_24718710_A->C 7 24718710 24718710 A C snp 2427.77 1/1 99 82 0 82 1.0 intronic rs722218 MPP6 AU NM_001303037 exon10 c.55463-39A>C 0.79373 0.9841 0.612026 0.6312 0.9921 Uncertain 7_24742128_G->A 7 24742128 24742128 G A snp 85.77 0/1 67 6 2 4 0.67 intronic rs2721819 DFNA5 AD NM_001127454 exon2 c.3734-250G>A 0.207268 0.0575 Uncertain 7_24742553_G->A 7 24742553 24742553 G A snp 119.78 0/1 27 6 1 5 0.83 intronic rs2240005 DFNA5 AD NM_001127454 exon2 c.3808+101G>A 0.328674 0.2748 Uncertain 7_24746022_A->G 7 24746022 24746022 A G snp 103.78 0/1 27 5 1 4 0.8 intronic rs2269812 DFNA5 AD NM_001127454 exon3 c.7351+27A>G 0.165335 0.2004 0.122595 0.1945 0.2273 Uncertain 7_24747910_G->A 7 24747910 24747910 G A snp 647.77 1/1 48 23 0 23 1.0 intronic rs2721809 DFNA5 AD NM_001127454 exon4 c.9229+37G>A 0.730032 0.9841 0.523297 0.5655 0.9917 Uncertain 7_24758645_G->T 7 24758645 24758645 G T snp 631.77 1/1 48 18 0 18 1.0 intronic rs876307 DFNA5 AD NM_001127454 exon7 c.20021-20G>T 0.73762 0.9841 0.537214 0.5707 0.9914 Uncertain 7_24758795_T->C 7 24758795 24758795 T C snp 1909.77 1/1 99 65 0 65 1.0 exonic rs876305 DFNA5 AD synonymous SNV NM_004403 exon4 c.A447G p.E149E 0.73762 0.9841 0.537367 0.5712 0.9921 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000037975.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 7_24784403_C->T 7 24784403 24784403 C T snp 2842.77 1/1 99 96 0 96 1.0 intronic rs2521768 DFNA5 AD NM_001127454 exon8 c.45729+30C>T 0.717652 0.7698 0.585499 0.5876 0.7994 Uncertain 7_24784485_A->G 7 24784485 24784485 A G snp 301.78 1/1 24 8 0 8 1.0 intronic rs2521769 DFNA5 AD NM_001127454 exon8 c.45729+112A>G 0.324081 0.1835 Uncertain 7_24789082_C->T 7 24789082 24789082 C T snp 52.74 1/1 6 2 0 2 1.0 intronic rs2521770 DFNA5 AD NM_001127453 exon9 c.50538-100C>T 0.814696 0.998 Uncertain 7_24843870_A->G 7 24843870 24843870 A G snp 352.77 0/1 99 24 10 14 0.58 intronic rs2285652 OSBPL3 AU NM_145322 exon2 c.4132-63A>G 0.0902556 0.1974 Uncertain 7_24844066_C->G 7 24844066 24844066 C G snp 613.77 0/1 99 63 31 32 0.51 intronic rs2285653 OSBPL3 AU NM_145322 exon2 c.4255+10C>G 0.104413 0.1859 0.5072 Uncertain 7_24854765_G->A 7 24854765 24854765 G A snp 3796.77 1/1 99 133 0 133 1.0 exonic rs1044956 OSBPL3 AU synonymous SNV NM_015550 exon19 c.C2085T p.S695S 0.383387 0.7371 0.216054 0.3476 0.7334 Uncertain 7_24859962_A->C 7 24859962 24859962 A C snp 1259.77 0/1 99 118 67 51 0.43 intronic rs7810587 OSBPL3 AU NM_145322 exon7 c.20056+105A>C 0.337859 0.5208 Uncertain 7_24860000_G->C 7 24860000 24860000 G C snp 2135.77 1/1 99 72 0 72 1.0 intronic rs6979174 OSBPL3 AU NM_145322 exon7 c.20056+143G>C 0.803315 0.9712 Uncertain 7_24888620_T->C 7 24888620 24888620 T C snp 209.84 1/1 18 8 0 8 1.0 intronic rs757156 OSBPL3 AU NM_015550 exon12 c.48886-67T>C 0.842452 0.9861 Uncertain 7_24891947_C->T 7 24891947 24891947 C T snp 409.77 1/1 33 12 0 12 1.0 intronic rs6461822 OSBPL3 AU NM_145322 exon12 c.52321-175C>T 0.854633 0.9861 Uncertain 7_24902762_C->T 7 24902762 24902762 C T snp 912.77 0/1 99 49 18 31 0.63 intronic rs2285690 OSBPL3 AU NM_015550 exon15 c.63017-56C>T 0.569489 0.7639 Uncertain 7_24903107_C->G 7 24903107 24903107 C G snp 1408.77 0/1 99 89 38 51 0.57 intronic rs2285691 OSBPL3 AU NM_145322 exon14 c.63313-7C>G 0.570687 0.7639 0.411733 0.4227 0.7979 Uncertain 7_24904868_T->A 7 24904868 24904868 T A snp 1294.77 0/1 99 92 45 47 0.51 intronic rs2040689 OSBPL3 AU NM_145322 exon15 c.65159-92T>A 0.570687 0.7649 Uncertain 7_24904873_G->A 7 24904873 24904873 G A snp 1329.77 0/1 99 103 50 53 0.51 intronic rs3735543 OSBPL3 AU NM_145322 exon15 c.65159-87G>A 0.4375 0.7649 Uncertain 7_24904889_T->C 7 24904889 24904889 T C snp 1754.77 0/1 99 135 64 71 0.53 intronic rs2040690 OSBPL3 AU NM_145322 exon15 c.65159-71T>C 0.572684 0.7649 Uncertain 7_24910573_A->T 7 24910573 24910573 A T snp 38.77 0/1 67 5 3 2 0.4 intronic rs3735540 OSBPL3 AU NM_145322 exon17 c.70663+109A>T 0.000399361 0.002 Uncertain 7_24911526_G->A 7 24911526 24911526 G A snp 706.77 0/1 99 65 38 27 0.42 intronic rs10261181 OSBPL3 AU NM_145322 exon19 c.71770-45G>A 0.445487 0.7421 0.276872 0.3433 0.7784 Uncertain 7_25182405_G->T 7 25182405 25182405 G T snp 1641.77 0/1 99 148 70 78 0.53 exonic rs11984293 C7orf31 AU nonsynonymous SNV NM_138811 exon8 c.C713A p.P238Q 0.208267 0.1587 0.226050 0.1626 0.1842 0.9 T 0.191 P -0.998 T 0.518 P 0.147 P Pathogenic 7_25194618_G->A 7 25194618 25194618 G A snp 496.77 0/1 99 63 36 27 0.43 intronic rs2523073 C7orf31 AU NM_138811 exon5 c.19039-11G>A 0.538339 0.4206 0.601569 0.5608 0.4180 Uncertain 7_25194665_G->C 7 25194665 25194665 G C snp 637.77 0/1 99 75 46 29 0.39 exonic rs2523072 C7orf31 AU nonsynonymous SNV NM_138811 exon6 c.C560G p.T187S 0.538339 0.4206 0.601722 0.5624 0.4207 0.77 T 0.305 P -1.083 T 0.994 D 0.922 D Pathogenic 7_25194857_A->T 7 25194857 25194857 A T snp 293.77 0/1 99 30 18 12 0.4 intronic rs2717899 C7orf31 AU NM_138811 exon5 c.19221+46A>T 0.538339 0.4206 0.601569 0.5632 0.4268 Uncertain 7_25194918_A->G 7 25194918 25194918 A G snp 60.77 0/1 89 9 6 3 0.33 intronic rs2523071 C7orf31 AU NM_138811 exon5 c.19221+107A>G 0.538538 0.4206 Uncertain 7_25198089_C->G 7 25198089 25198089 C G snp 540.77 0/1 99 58 29 29 0.5 intronic rs2523066 C7orf31 AU NM_138811 exon6 c.22529-30C>G 0.207069 0.2808 0.178308 0.1328 0.2861 Uncertain 7_25200653_G->A 7 25200653 25200653 G A snp 64.77 0/1 93 6 3 3 0.5 intronic rs2717877 C7orf31 AU NM_138811 exon7 c.25217-154G>A 0.222045 0.2798 Uncertain 7_25207849_G->A 7 25207849 25207849 G A snp 1041.77 0/1 99 78 39 39 0.5 intronic rs2717859 C7orf31 AU NM_138811 exon8 c.32317-58G>A 0.204273 0.2629 Uncertain 7_25207963_G->A 7 25207963 25207963 G A snp 2383.77 0/1 99 193 84 109 0.56 exonic rs3213642 C7orf31 AU nonsynonymous SNV NM_138811 exon3 c.C256T p.R86C 0.0609026 0.1627 0.024758 0.0438 0.1837 0.17 T 0.0 P -0.939 T 0.003 T 0.002 T Pathogenic 7_25207974_T->C 7 25207974 25207974 T C snp 2415.77 0/1 99 197 84 113 0.57 exonic rs2717858 C7orf31 AU nonsynonymous SNV NM_138811 exon3 c.A245G p.Y82C 0.303115 0.2629 0.272567 0.1586 0.2712 0.3 T 0.000 P -1.052 T 0.0 T 0.0 T Pathogenic 7_25207994_G->A 7 25207994 25207994 G A snp 2262.77 0/1 99 187 83 104 0.56 exonic rs2717857 C7orf31 AU synonymous SNV NM_138811 exon3 c.C225T p.P75P 0.197684 0.2609 0.168614 0.1281 0.2703 Uncertain 7_25264543_C->G 7 25264543 25264543 C G snp 343.77 0/1 99 18 5 13 0.72 UTR3 rs55789252 NPVF AU 0.142772 0.1448 Uncertain 7_25264847_T->A 7 25264847 25264847 T A snp 190.77 0/1 99 14 6 8 0.57 intronic rs2717854 NPVF AU NM_022150 exon1 c.52+55T>A 0.283946 0.1458 0.309023 Uncertain 7_25266400_G->A 7 25266400 25266400 G A snp 2770.77 0/1 99 207 97 110 0.53 exonic rs2717851 NPVF AU synonymous SNV NM_022150 exon2 c.C384T p.P128P 0.278355 0.1468 0.307935 0.2702 0.1395 Uncertain 7_25266570_TAA->- 7 25266570 25266572 TAA - indel 6337.73 0/1 99 241 115 126 0.52 exonic rs3216928 NPVF AU nonframeshift deletion NM_022150 exon2 c.212_214del p.71_72del 0.146366 0.1448 0.140495 0.1227 0.1365 Uncertain 7_25267963_G->C 7 25267963 25267963 G C snp 1115.77 1/1 78 45 0 45 1.0 exonic rs886354 NPVF AU nonsynonymous SNV NM_022150 exon1 c.C96G p.I32M 0.97484 1 0.943863 0.9446 0.9999 1 T 0.0 P -0.979 T 0.0 T 0.0 T Pathogenic 7_26223294_A->G 7 26223294 26223294 A G snp 1820.77 1/1 99 53 0 53 1.0 intronic rs12113404 NFE2L3 AU NM_004289 exon3 c.31202-26A>G 0.347644 0.5466 0.215285 0.2077 0.5435 Uncertain 7_26224668_C->T 7 26224668 26224668 C T snp 7234.77 1/1 99 249 0 249 1.0 exonic rs2074566 NFE2L3 AU synonymous SNV NM_004289 exon4 c.C1350T p.C450C 0.35603 0.5466 0.223666 0.2081 0.5413 Uncertain 7_26232367_T->C 7 26232367 26232367 T C snp 272.77 0/1 99 15 6 9 0.6 intronic rs12672536 HNRNPA2B1 AU NM_002137 exon2 c.62+170T>C 0.240016 0.4266 Uncertain 7_26235413_G->A 7 26235413 26235413 G A snp 773.77 0/1 99 98 65 33 0.34 intronic rs75904946 HNRNPA2B1 AU NM_002137 exon5 c.3331-53G>A 0.0579073 0.119 0.021901 Uncertain 7_26235905_T->C 7 26235905 26235905 T C snp 309.77 0/1 99 40 29 11 0.28 intronic rs10499571 HNRNPA2B1 AU NM_002137 exon6 c.3885-115T>C 0.0473243 0.119 Uncertain 7_26236756_T->A 7 26236756 26236756 T A snp 694.77 0/1 99 42 20 22 0.52 intronic rs17153396 HNRNPA2B1 AU NM_002137 exon8 c.4502+119T>A 0.058107 0.119 Uncertain 7_26386122_T->A 7 26386122 26386122 T A snp 2458.77 0/1 99 248 144 104 0.42 intronic rs3801891 SNX10 AR NM_001199835 exon2 c.24+36T>A 0.503195 0.505 0.408734 0.4115 0.4883 Uncertain 7_26386154_T->C 7 26386154 26386154 T C snp 2377.77 0/1 99 240 136 104 0.43 intronic rs3801890 SNX10 AR NM_001199835 exon2 c.24+68T>C 0.525958 0.505 0.421156 Uncertain 7_26404071_G->A 7 26404071 26404071 G A snp 668.77 0/1 99 46 21 25 0.54 intronic rs2253569 SNX10 AR NM_001199837 exon2 c.3575-83G>A 0.447883 0.4583 Uncertain 7_26576535_T->C 7 26576535 26576535 T C snp 2345.77 0/1 99 207 103 104 0.5 ncRNA_exonic rs740182 KIAA0087 AU 0.487819 0.1974 0.4948 0.2213 0 D 0.0 P -0.983 T Uncertain 7_26678856_A->G 7 26678856 26678856 A G snp 552.77 0/1 99 113 83 30 0.27 exonic rs57000259 C7orf71 AU nonsynonymous SNV NM_001302625 exon1 c.A22G p.T8A 0.397364 0.3393 0.417871 0.3008 0.3557 Pathogenic 7_26685934_T->C 7 26685934 26685934 T C snp 1370.77 0/1 99 155 94 61 0.39 exonic rs12671270 C7orf71 AU synonymous SNV NM_001302625 exon3 c.T210C p.C70C 0.282149 0.3264 0.317565 0.2558 0.3392 Uncertain 7_26724279_T->G 7 26724279 26724279 T G snp 2085.77 1/1 99 66 0 66 1.0 intronic rs212850 SKAP2 AU NM_001303468 exon3 c.14636-75T>G 0.860024 0.8839 Uncertain 7_26778406_A->G 7 26778406 26778406 A G snp 3381.77 1/1 99 124 0 124 1.0 intronic rs10951145 SKAP2 AU NM_001303468 exon8 c.68695-7A>G 0.627796 0.8542 0.526834 0.5984 0.8905 Uncertain 7_27135314_C->T 7 27135314 27135314 C T snp 6769.77 1/1 99 244 0 244 1.0 exonic rs10951154 HOXA1 AU nonsynonymous SNV NM_005522 exon1 c.G218A p.R73H 0.780751 0.994 0.730432 0.7660 0.9220 0.57 T 0.0 P -1.005 T 0.0 T 0.0 T ID=CM005531;DIS=Autism spectrum disorder, association with;TAG=DP;PUB=11091361 DP Pathogenic 7_27141267_C->T 7 27141267 27141267 C T snp 1126.77 1/1 81 41 0 41 1.0 intronic rs706016 HOXA2 AR,AD NM_006735 exon1 c.740+183C>T 1 1 Uncertain 7_27168719_C->T 7 27168719 27168719 C T snp 99.28 1/1 9 3 0 3 1.0 UTR3 rs4722662 HOXA4 AU 0.955471 0.998 Uncertain 7_27169093_T->G 7 27169093 27169093 T G snp 5012.77 1/1 99 184 1 183 0.99 exonic rs2158218 HOXA4 AU synonymous SNV NM_002141 exon2 c.A714C p.R238R 0.955471 0.998 0.952253 0.9628 0.9979 0 D 1.0 P -1.011 T Likely benign 7_27169617_T->C 7 27169617 27169617 T C snp 1274.77 1/1 96 39 0 39 1.0 intronic rs6943542 HOXA4 AU NM_002141 exon2 c.893-119T>C 0.955471 0.998 Uncertain 7_27169934_A->G 7 27169934 27169934 A G snp 944.77 1/1 69 28 0 28 1.0 exonic rs10251056 HOXA4 AU nonsynonymous SNV NM_002141 exon1 c.T419C p.L140P 0.955272 0.998 1 . 0.31 T 0.211 P -0.985 T 0.0 T 0.0 T Pathogenic 7_27170145_T->G 7 27170145 27170145 T G snp 1328.77 1/1 96 36 0 36 1.0 exonic rs6944345 HOXA4 AU nonsynonymous SNV NM_002141 exon1 c.A208C p.T70P 0.953674 0.998 0.965269 0.9548 1 1 T 0.000 P -0.985 T 0.0 T 0.0 T Pathogenic 7_27196069_A->C 7 27196069 27196069 A C snp 4134.77 1/1 99 152 0 152 1.0 exonic rs2301720 HOXA7 AU synonymous SNV NM_006896 exon1 c.T96G p.A32A 0.768371 0.8601 0.782910 0.8324 0.8622 Uncertain 7_27196113_C->T 7 27196113 27196113 C T snp 4147.77 1/1 99 160 0 160 1.0 exonic rs2301721 HOXA7 AU nonsynonymous SNV NM_006896 exon1 c.G52A p.A18T 0.618411 0.8581 0.623672 0.7691 0.8609 0.41 T 0.984 P -1.013 T 0.08 T 0.015 T Pathogenic 7_27203139_G->A 7 27203139 27203139 G A snp 298.78 1/1 24 9 0 9 1.0 ncRNA_exonic rs7810502 HOXA10-HOXA9 AU 0.63139 0.6141 Uncertain 7_27209079_G->A 7 27209079 27209079 G A snp 2156.77 0/1 99 201 101 100 0.5 ncRNA_exonic HOXA10-AS AU Uncertain 7_27238691_C->G 7 27238691 27238691 C G snp 752.77 0/1 99 66 37 29 0.44 intronic rs2071265 HOXA13 AD NM_000522 exon2 c.958-83C>G 0.865415 0.5893 Uncertain 7_27279191_T->G 7 27279191 27279191 T G snp 455.77 0/1 99 35 15 20 0.57 intergenic rs3801321 HOTTIP AU 0.659345 0.5188 0.8956 0.5530 -1.008 T Uncertain 7_27284929_C->T 7 27284929 27284929 C T snp 1243.77 0/1 99 90 40 50 0.56 splicing EVX1 AU NM_001304519 exon2 c.138+6C>T Pathogenic 7_27566053_G->C 7 27566053 27566053 G C snp 592.77 0/1 99 34 12 22 0.65 intronic rs12700813 HIBADH AU NM_152740 exon1 c.159+62G>C 0.766573 0.9583 Uncertain 7_27578167_C->G 7 27578167 27578167 C G snp 631.77 0/1 99 54 26 28 0.52 intronic rs9639553 HIBADH AU NM_152740 exon3 c.12204+131C>G 0.813299 0.9593 Uncertain 7_27581495_T->C 7 27581495 27581495 T C snp 820.77 0/1 99 69 33 36 0.52 intronic rs6462029 HIBADH AU NM_152740 exon4 c.16753-1090T>C 0.814497 0.9593 Uncertain 7_27582783_G->A 7 27582783 27582783 G A snp 443.77 0/1 99 30 9 21 0.7 intronic rs978447 HIBADH AU NM_152740 exon4 c.16887+64G>A 0.814097 0.9593 Uncertain 7_27668860_C->T 7 27668860 27668860 C T snp 175.77 0/1 99 17 10 7 0.41 intronic rs6415252 HIBADH AU NM_152740 exon5 c.103157-129C>T 0.844649 0.9762 Uncertain 7_27668889_G->A 7 27668889 27668889 G A snp 457.77 0/1 99 41 24 17 0.41 intronic rs16874325 HIBADH AU NM_152740 exon5 c.103157-100G>A 0.0479233 0.1825 Uncertain 7_27671899_T->C 7 27671899 27671899 T C snp 718.77 0/1 99 66 35 31 0.47 intronic rs7779990 HIBADH AU NM_152740 exon6 c.106122-55T>C 0.844449 0.9762 Uncertain 7_27702390_C->A 7 27702390 27702390 C A snp 121.77 0/1 99 9 4 5 0.56 exonic rs11550134 HIBADH AU synonymous SNV NM_152740 exon1 c.G18T p.R6R 0.282548 0.5397 0.160726 0.3872 0.5714 Uncertain 7_27807441_G->A 7 27807441 27807441 G A snp 440.77 1/1 33 15 0 15 1.0 intronic rs7807729 TAX1BP1 AU NM_001079864 exon4 c.17497+1801G>A 0.962061 0.999 Uncertain 7_27807450_G->C 7 27807450 27807450 G C snp 399.77 1/1 30 16 0 16 1.0 intronic rs7807738 TAX1BP1 AU NM_001079864 exon4 c.17497+1810G>C 0.297524 0.1935 Uncertain 7_27807589_T->C 7 27807589 27807589 T C snp 551.77 1/1 42 23 0 23 1.0 intronic rs7790914 TAX1BP1 AU NM_001079864 exon5 c.21151-1705T>C 0.962061 0.999 Uncertain 7_27833853_A->G 7 27833853 27833853 A G snp 528.77 1/1 42 15 0 15 1.0 intronic rs2074580 TAX1BP1 AU NM_001079864 exon11 c.45798-88A>G 0.173722 0.1935 Uncertain 7_27953035_A->G 7 27953035 27953035 A G snp 3967.77 1/1 99 166 2 164 0.99 intronic rs210 JAZF1 AU NM_175061 exon3 c.62617+18000A>G 0.353435 0.3988 0.3474 0.4087 Uncertain 7_28031704_T->C 7 28031704 28031704 T C snp 2114.77 1/1 99 68 0 68 1.0 intronic rs73089199 JAZF1 AU NM_175061 exon4 c.159182+104T>C 0.314297 0.4841 0.2940 0.5331 Uncertain 7_28111061_G->A 7 28111061 28111061 G A snp 345.78 1/1 27 11 0 11 1.0 intronic rs7783206 JAZF1 AU NM_175061 exon4 c.159182+79461G>A 0.252196 0.4028 Uncertain 7_28219956_C->T 7 28219956 28219956 C T snp 56.74 1/1 6 3 0 3 1.0 intronic rs186735625 JAZF1 AU NM_175061 exon5 c.347663-125C>T 0.192891 0.4712 Uncertain 7_28220228_C->T 7 28220228 28220228 C T snp 501.77 0/1 99 45 25 20 0.44 ncRNA_intronic rs10255700 JAZF1-AS1 AU 0.266573 0.2837 0.188010 0.1962 0.3088 Uncertain 7_28319007_T->A 7 28319007 28319007 T A snp 2417.77 1/1 99 88 0 88 1.0 intergenic rs177483 JAZF1-AS1 AU 0.381589 0.7024 0.250986 Uncertain 7_28319234_A->C 7 28319234 28319234 A C snp 3428.77 1/1 99 121 1 120 0.99 intergenic rs177484 JAZF1-AS1 AU 0.695487 0.7063 0.612571 Uncertain 7_28609796_A->G 7 28609796 28609796 A G snp 164.9 1/1 15 5 0 5 1.0 intronic rs1976489 CREB5 AU NM_004904 exon5 c.82172-186A>G 0.231829 0.4236 Uncertain 7_28662583_C->T 7 28662583 28662583 C T snp 313.78 1/1 24 12 0 12 1.0 intronic rs41289 CREB5 AU NM_004904 exon5 c.82345+52428C>T 0.74401 0.8978 Uncertain 7_28673541_G->A 7 28673541 28673541 G A snp 367.77 0/1 99 25 13 12 0.48 intronic rs41305 CREB5 AU NM_004904 exon5 c.82345+63386G>A 0.407748 0.4444 Uncertain 7_28676906_A->T 7 28676906 28676906 A T snp 1430.77 1/1 99 56 0 56 1.0 intronic rs41309 CREB5 AU NM_004904 exon5 c.82345+66751A>T 0.709864 0.6528 Uncertain 7_28677037_T->C 7 28677037 28677037 T C snp 50.74 1/1 6 2 0 2 1.0 intronic rs41310 CREB5 AU NM_004904 exon5 c.82345+66882T>C 0.922923 0.9762 Uncertain 7_28858456_A->G 7 28858456 28858456 A G snp 1113.77 0/1 99 113 62 51 0.45 intronic rs10951205 CREB5 AU NM_004904 exon11 c.330922-276A>G 0.78155 0.4276 Uncertain 7_28995800_G->A 7 28995800 28995800 G A snp 7124.77 1/1 99 249 0 249 1.0 exonic rs61742220 TRIL AU unknown 0.308506 0.6091 0.173555 0.3926 0.6705 Uncertain 7_28996557_C->T 7 28996557 28996557 C T snp 2499.77 1/1 99 98 0 98 1.0 exonic rs3735562 TRIL AU unknown 0.338658 0.6091 0.211986 0.3117 0.6173 Uncertain 7_28996944_T->C 7 28996944 28996944 T C snp 2755.77 1/1 99 97 0 97 1.0 exonic rs740250 TRIL AU unknown 0.846446 0.87 0.8473 0.8684 Uncertain 7_28997141_G->C 7 28997141 28997141 G C snp 5522.77 1/1 99 197 0 197 1.0 exonic rs6950750 TRIL AU unknown 0.327276 0.6091 0.217816 0.2720 0.6071 Uncertain 7_28997498_C->- 7 28997498 28997498 C - indel 9841.73 1/1 99 238 0 238 1.0 splicing rs67010340 TRIL AU NM_014817 exon2 c.2272delC 1 1 1 1 Pathogenic 7_28997596_-->C 7 28997596 28997596 - C indel 4267.73 1/1 99 104 0 104 1.0 exonic rs5883174 TRIL AU unknown 1 1 0.999738 1.0000 1 Uncertain 7_29103867_T->C 7 29103867 29103867 T C snp 2380.77 1/1 99 90 0 90 1.0 intronic rs644763 CPVL AU NM_019029 exon3 c.68463+17T>C 0.863419 0.8512 0.846225 0.8565 0.8680 Uncertain 7_29103877_T->C 7 29103877 29103877 T C snp 2190.77 1/1 99 82 0 82 1.0 intronic rs2074783 CPVL AU NM_019029 exon3 c.68463+27T>C 0.342053 0.6458 0.218745 0.2743 0.6563 Uncertain 7_29103944_-->T 7 29103944 29103944 - T indel 754.73 1/1 57 19 0 19 1.0 intronic rs34641639 CPVL AU NM_019029 exon3 c.68463+94insT 0.859824 0.8492 Uncertain 7_29105776_A->G 7 29105776 29105776 A G snp 2934.77 1/1 99 110 0 110 1.0 intronic rs2270027 CPVL AU NM_019029 exon4 c.70350+39A>G 0.208466 0.4286 0.148624 0.1894 0.4492 Uncertain 7_29111578_A->C 7 29111578 29111578 A C snp 5747.77 1/1 99 215 1 214 1.0 intronic rs2074784 CPVL AU NM_019029 exon5 c.76133+58A>C 0.344449 0.619 Uncertain 7_29111620_A->C 7 29111620 29111620 A C snp 3126.77 1/1 99 100 1 99 0.99 intronic rs317719 CPVL AU NM_019029 exon5 c.76133+100A>C 0.969848 0.874 Uncertain 7_29111634_C->A 7 29111634 29111634 C A snp 2408.77 1/1 99 69 0 69 1.0 intronic rs2074785 CPVL AU NM_019029 exon5 c.76133+114C>A 0.205871 0.4266 Uncertain 7_29132212_A->G 7 29132212 29132212 A G snp 3868.77 1/1 99 135 0 135 1.0 intronic rs2687636 CPVL AU NM_019029 exon8 c.96851-26A>G 0.698283 0.8571 0.605028 0.5438 0.8609 Uncertain 7_29135569_C->T 7 29135569 29135569 C T snp 174.9 1/1 15 5 0 5 1.0 intronic rs2286992 CPVL AU NM_019029 exon10 c.100331-149C>T 0.243411 0.371 Uncertain 7_29186256_A->G 7 29186256 29186256 A G snp 633.77 0/1 99 45 22 23 0.51 upstream rs245880 CPVL AU 0.577276 0.6944 0.4891 0.6707 Uncertain 7_29186576_A->G 7 29186576 29186576 A G snp 3911.77 1/1 99 140 0 140 1.0 upstream rs245881 CPVL AU 0.832268 0.9881 0.8149 0.9857 1 T 0.000 P -0.921 T 0.0 T 0.001 T Uncertain 7_29433356_A->G 7 29433356 29433356 A G snp 101.28 1/1 9 4 0 4 1.0 intronic rs57232784 CHN2 AU NM_001293072 exon4 c.195731+30A>G 0.192891 0.0446 0.196045 0.1683 0.0968 Uncertain 7_29437866_C->G 7 29437866 29437866 C G snp 143.77 0/1 99 13 8 5 0.38 intronic rs60864303 CHN2 AU NM_001293072 exon5 c.200393-122C>G 0.0605032 0.0139 Uncertain 7_29437867_T->C 7 29437867 29437867 T C snp 512.77 1/1 39 13 0 13 1.0 intronic rs7799981 CHN2 AU NM_001293072 exon5 c.200393-121T>C 0.863818 0.8889 Uncertain 7_29439641_G->A 7 29439641 29439641 G A snp 342.77 0/1 99 25 12 13 0.52 intronic rs12669481 CHN2 AU NM_001293072 exon6 c.202563-517G>A 0.390575 0.5833 Uncertain 7_29439773_C->T 7 29439773 29439773 C T snp 1437.77 0/1 99 120 58 62 0.52 intronic rs10248000 CHN2 AU NM_001293072 exon6 c.202563-385C>T 0.213858 0.121 Uncertain 7_29440551_C->G 7 29440551 29440551 C G snp 71.77 0/1 99 10 7 3 0.3 intronic rs10251888 CHN2 AU NM_001293072 exon6 c.202849+107C>G 0.0714856 0.0347 Uncertain 7_29520042_G->A 7 29520042 29520042 G A snp 3547.77 1/1 99 118 0 118 1.0 intronic rs1476991 CHN2 AU NM_001293079 exon1 c.246+70G>A 0.334665 0.3849 Uncertain 7_29523563_G->A 7 29523563 29523563 G A snp 2981.77 1/1 99 116 1 115 0.99 intronic rs12665897 CHN2 AU NM_001293081 exon1 c.33-28G>A 0.270767 0.3552 0.3209 0.3436 Uncertain 7_29546763_-->T 7 29546763 29546763 - T indel 257.7 1/1 6 18 2 16 0.89 intronic rs11388362 CHN2 AU NM_001293076 exon4 c.27117-80insT 0.5002 0.506 Uncertain 7_29552463_C->G 7 29552463 29552463 C G snp 182.9 1/1 15 5 0 5 1.0 UTR3 rs1420145 CHN2 AU 0.971446 1 Uncertain 7_29605935_G->A 7 29605935 29605935 G A snp 1676.77 0/1 99 146 70 76 0.52 UTR5 rs2302617 PRR15 AU 0.168131 0.3264 0.111736 0.1965 0.3739 Uncertain 7_29605975_C->G 7 29605975 29605975 C G snp 2148.77 0/1 99 196 102 94 0.48 exonic rs2302618 PRR15 AU synonymous SNV NM_175887 exon2 c.C30G p.S10S 0.827476 0.7292 0.910763 0.9028 0.7439 Uncertain 7_29606288_C->T 7 29606288 29606288 C T snp 676.77 0/1 99 102 68 34 0.33 exonic rs10271996 PRR15 AU nonsynonymous SNV NM_175887 exon2 c.C343T p.P115S 0.425319 0.5288 0.382481 0.4804 0.6139 0.76 T 0.0 P -0.932 T 0.002 T 0.005 T Pathogenic 7_29771597_A->C 7 29771597 29771597 A C snp 2667.77 1/1 99 104 1 103 0.99 intergenic rs850084 DPY19L2P3 AU 0.314297 0.3145 Uncertain 7_29781927_T->A 7 29781927 29781927 T A snp 5291.77 1/1 99 188 1 187 0.99 intergenic rs850098 DPY19L2P3 AU 0.385783 0.3313 Uncertain 7_29924221_T->C 7 29924221 29924221 T C snp 2623.77 0/1 99 250 151 99 0.4 intronic rs13310795 WIPF3 AU NM_001080529 exon5 c.49869+12T>C 0.408347 0.0883 0.449352 0.5263 0.1502 Uncertain 7_29944062_A->T 7 29944062 29944062 A T snp 933.77 0/1 99 65 27 38 0.58 intronic rs4722959 WIPF3 AU NM_001080529 exon8 c.69638+84A>T 0.707468 0.8899 Uncertain 7_30113862_-->TG 7 30113862 30113862 - TG indel 694.73 0/1 99 78 21 57 0.73 intronic rs149548208 PLEKHA8 AU NM_001197027 exon13 c.45370+114insTG 0.558906 0.6429 Uncertain 7_30177095_G->T 7 30177095 30177095 G T snp 267.8 1/1 21 9 0 9 1.0 intronic rs6954451 MTURN AU NM_152793 exon1 c.162+2181G>T 0.727236 0.751 Uncertain 7_30177278_C->T 7 30177278 30177278 C T snp 1754.77 0/1 99 156 81 75 0.48 intronic rs6954379 MTURN AU NM_152793 exon1 c.162+2364C>T 0.401957 0.3839 0.3191 0.3848 Uncertain 7_30485703_-->C 7 30485703 30485703 - C indel 1787.73 1/1 99 63 0 63 1.0 intronic rs55996014 NOD1 AU NM_006092 exon6 c.20503-53insC Uncertain 7_30485710_A->C 7 30485710 30485710 A C snp 1915.77 1/1 99 71 0 71 1.0 intronic rs6958571 NOD1 AU NM_006092 exon6 c.20503-46A>C 0.234225 0.2212 0.062125 0.2470 0.2341 Uncertain 7_30485741_A->G 7 30485741 30485741 A G snp 2257.77 1/1 99 94 0 94 1.0 intronic rs2907749 NOD1 AU NM_006092 exon6 c.20503-15A>G 0.336462 0.2212 0.359834 0.3008 0.2390 Uncertain 7_30490760_A->G 7 30490760 30490760 A G snp 505.77 1/1 39 13 0 13 1.0 intronic rs2075822 NOD1 AU NM_006092 exon9 c.25578-71A>G 0.182907 0.2202 Uncertain 7_30490846_G->A 7 30490846 30490846 G A snp 1251.77 0/1 99 84 37 47 0.56 exonic rs199741743 NOD1 AU synonymous SNV NM_006092 exon6 c.C2187T p.R729R 0.000798722 0.004 0.0005 0.0063 Uncertain 7_30536874_G->A 7 30536874 30536874 G A snp 926.77 0/1 99 82 39 43 0.52 intronic rs38405 GGCT AU NM_001199817 exon1 c.144+23G>A 0.583666 0.4266 0.560336 0.4825 0.4268 Uncertain 7_30537600_G->A 7 30537600 30537600 G A snp 142.77 0/1 99 14 8 6 0.43 intronic rs17159153 GGCT AU NM_001199815 exon2 c.719+88G>A 0.0209665 0.0595 Uncertain 7_30538651_T->C 7 30538651 30538651 T C snp 1762.77 0/1 99 129 56 73 0.57 intronic rs38409 GGCT AU NM_024051 exon2 c.1847+97T>C 0.665535 0.6964 0.7366 0.6857 0.000 P -1.006 T 0.007 T 0.003 T Uncertain 7_30540399_G->T 7 30540399 30540399 G T snp 73.77 0/1 99 11 7 4 0.36 intronic rs38410 GGCT AU NM_001199816 exon2 c.3504+102G>T 0.636581 0.6895 Uncertain 7_30544360_G->A 7 30544360 30544360 G A snp 3050.77 0/1 99 247 125 122 0.49 UTR5 rs38414 GGCT AU 0.61262 0.6875 0.653314 0.6659 0.6749 Uncertain 7_30634661_C->G 7 30634661 30634661 C G snp 626.77 0/1 99 58 31 27 0.47 exonic rs1049402 GARS AD nonsynonymous SNV NM_002047 exon1 c.C124G p.P42A 0.649361 0.6677 0.739882 0.7030 0.6331 0.78 T 0.0 P -1.050 T 0.0 T 0.0 T Pathogenic 7_30635600_C->T 7 30635600 30635600 C T snp 838.77 0/1 99 72 35 37 0.51 intronic rs10265589 GARS AD NM_002047 exon1 c.222+841C>T 0.40016 0.4901 Uncertain 7_30642499_C->A 7 30642499 30642499 C A snp 56.74 1/1 6 2 0 2 1.0 intronic rs2709809 GARS AD NM_002047 exon5 c.8112-150C>A 0.770367 0.6677 Uncertain 7_30643069_C->A 7 30643069 30643069 C A snp 267.77 0/1 99 17 7 10 0.59 intronic rs1558064 GARS AD NM_002047 exon6 c.8574-42C>A 0.399161 0.4871 0.491408 0.5518 0.4865 Uncertain 7_30651938_G->A 7 30651938 30651938 G A snp 752.77 0/1 99 92 59 33 0.36 intronic rs1986756 GARS AD NM_002047 exon8 c.17324+77G>A 0.745008 0.6677 Uncertain 7_30660938_A->C 7 30660938 30660938 A C snp 471.77 0/1 99 32 15 17 0.53 intronic rs10951271 GARS AD NM_002047 exon11 c.26471-70A>C 0.319289 0.4534 Uncertain 7_30662237_G->A 7 30662237 30662237 G A snp 288.77 0/1 99 20 10 10 0.5 intronic rs10249885 GARS AD NM_002047 exon12 c.27541+159G>A 0.404353 0.4871 Uncertain 7_30673345_C->T 7 30673345 30673345 C T snp 986.77 0/1 99 120 69 51 0.42 splicing rs2240401 GARS AD NM_002047 exon17 c.38813-5C>T 0.404153 0.4861 0.489789 0.5525 0.4851 Pathogenic 7_30673513_A->- 7 30673513 30673513 A - indel 174.73 0/1 99 47 19 28 0.6 UTR3 rs70983380 GARS AD 0.4340 0.3782 Uncertain 7_30694260_C->T 7 30694260 30694260 C T snp 707.77 0/1 99 85 53 32 0.38 intronic rs3779250 CRHR2 AU NM_001883 exon2 c.1579-394C>T 0.398962 0.4831 Uncertain 7_30705105_G->A 7 30705105 30705105 G A snp 478.77 0/1 99 45 24 21 0.47 intronic rs8192496 CRHR2 AU NM_001202483 exon10 c.10790-40G>A 0.534345 0.4742 0.628058 0.6016 0.5154 Uncertain 7_30728908_A->T 7 30728908 30728908 A T snp 712.77 0/1 99 82 51 31 0.38 intronic rs255100 CRHR2 AU NM_001202481 exon13 c.35825+8A>T 0.380591 0.4544 0.4957 0.4691 Uncertain 7_30739691_A->G 7 30739691 30739691 A G snp 88.77 0/1 30 6 1 5 0.83 UTR5 rs107540 CRHR2 AU 0.6393 0.5779 Uncertain 7_30795331_A->G 7 30795331 30795331 A G snp 4553.77 1/1 99 164 0 164 1.0 exonic rs2302340 INMT AU nonsynonymous SNV NM_006774 exon3 c.A656G p.E219G 0.329273 0.5476 0.317546 0.4040 0.5507 0.07 T 0.985 P -0.926 T 0.969 D 0.847 D Pathogenic 7_30795436_T->G 7 30795436 30795436 T G snp 2591.77 1/1 99 84 0 84 1.0 exonic rs4720015 INMT AU nonsynonymous SNV NM_006774 exon3 c.T761G p.F254C 0.773163 0.8423 0.785945 0.8544 0.8396 0.09 T 0.001 P -1.058 T 1.0 D 0.995 D ID=CM097282;DIS=Decreased protein stability;TAG=FP;PUB=19702579 FP Pathogenic 7_30795547_A->G 7 30795547 30795547 A G snp 141.03 1/1 12 4 0 4 1.0 ncRNA_intronic rs6970396 INMT-FAM188B AU 0.769768 0.8423 Uncertain 7_30805810_CTCACA->- 7 30805810 30805815 CTCACA - indel 3808.73 ./1 99 54 0 54 1.0 ncRNA_intronic INMT-FAM188B AU Uncertain 7_30805810_CTCA->- 7 30805810 30805813 CTCA - indel 3808.73 ./1 99 54 0 54 1.0 ncRNA_intronic rs146676127 INMT-FAM188B AU Uncertain 7_30805849_A->C 7 30805849 30805849 A C snp 3344.77 1/1 99 118 0 118 1.0 ncRNA_intronic rs4582452 INMT-FAM188B AU 0.541733 0.7708 Uncertain 7_30915263_A->G 7 30915263 30915263 A G snp 433.77 0/1 99 44 27 17 0.39 exonic rs10216063 FAM188B AU nonsynonymous SNV NM_032222 exon15 c.A1963G p.M655V 0.459665 0.4157 0.312159 0.2724 0.4211 0 D 1.0 P -0.903 T 0.001 T 0.0 T Pathogenic 7_31003639_C->T 7 31003639 31003639 C T snp 842.77 0/1 99 75 36 39 0.52 UTR5 rs2302021 GHRHR AU 0.108227 0.1607 0.052187 0.0670 0.1512 Uncertain 7_31003819_C->T 7 31003819 31003819 C T snp 197.77 0/1 99 14 5 9 0.64 intronic rs4988494 GHRHR AU NM_000823 exon1 c.57+79C>T 0.24381 0.2183 Uncertain 7_31013662_G->A 7 31013662 31013662 G A snp 1373.77 0/1 99 118 59 59 0.5 exonic rs145466944 GHRHR AU synonymous SNV NM_000823 exon7 c.G660A p.L220L 0.00179712 0.0069 0.0010 0.0086 Uncertain 7_31121501_T->C 7 31121501 31121501 T C snp 202.77 0/1 85 11 3 8 0.73 intronic rs2302475 ADCYAP1R1 AU NM_001118 exon6 c.18489+132T>C 0.459065 0.5218 Uncertain 7_31125082_-->G 7 31125082 31125082 - G indel 1402.73 1/1 99 39 0 39 1.0 intronic rs11410563 ADCYAP1R1 AU NM_001118 exon9 c.22177+25insG 1 1 1.0000 1 Uncertain 7_31135471_G->A 7 31135471 31135471 G A snp 163.77 0/1 99 10 3 7 0.7 intronic rs2267734 ADCYAP1R1 AU NM_001118 exon13 c.29469+3122G>A 0.513578 0.381 Uncertain 7_31378933_A->G 7 31378933 31378933 A G snp 1666.77 0/1 99 102 41 61 0.6 intronic rs2233404 NEUROD6 AU NM_022728 exon1 c.1035+30A>G 0.259984 0.3046 0.295381 0.3224 0.2785 Uncertain 7_31592419_T->A 7 31592419 31592419 T A snp 46.78 0/1 27 3 1 2 0.67 intronic rs7793821 CCDC129 AU NM_001257967 exon3 c.3509-196T>A 0.504992 0.4544 Uncertain 7_31592733_C->A 7 31592733 31592733 C A snp 1051.77 0/1 99 93 47 46 0.49 exonic rs7811042 CCDC129 AU nonsynonymous SNV NM_001257967 exon3 c.C125A p.A42D 0.503195 0.4544 0.595956 0.6281 0.5143 0.08 T 0.0 P -0.934 T 0.958 D 0.483 D Pathogenic 7_31594166_C->T 7 31594166 31594166 C T snp 4563.77 1/1 99 165 0 165 1.0 intronic rs2286710 CCDC129 AU NM_001257967 exon4 c.5031+29C>T 0.739816 0.7857 0.821747 0.8313 0.7721 Uncertain 7_31594258_G->T 7 31594258 31594258 G T snp 829.77 0/1 99 62 28 34 0.55 intronic rs12155214 CCDC129 AU NM_001257967 exon4 c.5031+121G>T 0.502995 0.4544 Uncertain 7_31594508_C->T 7 31594508 31594508 C T snp 532.77 0/1 99 46 22 24 0.52 exonic rs2286711 CCDC129 AU synonymous SNV NM_001257967 exon5 c.C279T p.D93D 0.228834 0.3313 0.216779 0.3213 0.4366 Uncertain 7_31609317_T->A 7 31609317 31609317 T A snp 1499.77 0/1 99 116 55 61 0.53 intronic rs17160268 CCDC129 AU NM_001257967 exon6 c.20265-54T>A 0.21226 0.2897 0.196671 Uncertain 7_31611522_A->G 7 31611522 31611522 A G snp 56.74 1/1 6 2 0 2 1.0 intronic rs2041364 CCDC129 AU NM_001257967 exon7 c.22609-193A>G 0.903554 0.995 Uncertain 7_31611758_G->T 7 31611758 31611758 G T snp 2641.77 0/1 99 249 136 113 0.45 exonic rs67930674 CCDC129 AU synonymous SNV NM_001257967 exon7 c.G381T p.G127G 0.441094 0.3383 0.451407 0.4395 0.3371 Uncertain 7_31617733_T->C 7 31617733 31617733 T C snp 7276.77 1/1 99 250 1 249 1.0 exonic rs6945679 CCDC129 AU synonymous SNV NM_001257967 exon9 c.T885C p.V295V 0.952875 0.9911 0.955853 0.9746 0.9973 Uncertain 7_31618008_A->G 7 31618008 31618008 A G snp 2369.77 1/1 99 85 0 85 1.0 exonic rs10252720 CCDC129 AU nonsynonymous SNV NM_001257967 exon9 c.A1160G p.H387R 0.952875 0.9911 0.958103 0.9748 0.9973 0.0 P -0.986 T 0.0 T 0.001 T Pathogenic 7_31681765_C->T 7 31681765 31681765 C T snp 627.77 1/1 45 24 0 24 1.0 intronic rs10239388 CCDC129 AU NM_001257967 exon11 c.92683-24C>T 0.728834 0.8085 0.721814 0.7745 0.7860 Uncertain 7_31682453_C->T 7 31682453 31682453 C T snp 5552.77 1/1 99 197 0 197 1.0 exonic rs4141001 CCDC129 AU nonsynonymous SNV NM_001257967 exon12 c.C1499T p.A500V 0.728834 0.8085 0.712440 0.7685 0.8368 0.53 T 0.0 P -0.980 T 0.848 T 0.129 P ID=CM152573;DIS=Psoriasis, association with;TAG=DP;PUB=25854761 DP Pathogenic 7_31683410_G->A 7 31683410 31683410 G A snp 8110.77 1/1 99 250 0 250 1.0 exonic rs10247620 CCDC129 AU nonsynonymous SNV NM_001257967 exon12 c.G2456A p.C819Y 0.76278 0.8115 0.753421 0.7796 0.8378 1 T 0.0 P -0.929 T 0.96 D 0.605 D Pathogenic 7_31683610_G->A 7 31683610 31683610 G A snp 4695.77 1/1 99 172 0 172 1.0 intronic rs38398 CCDC129 AU NM_001257967 exon12 c.94461+43G>A 0.975439 1 0.981160 0.9780 1 Uncertain 7_31691697_T->C 7 31691697 31691697 T C snp 1648.77 1/1 99 64 1 63 0.98 intronic rs3735424 CCDC129 AU NM_001257967 exon14 c.102558+33T>C 0.755591 0.7976 0.751770 0.7848 0.8266 Uncertain 7_31735263_G->C 7 31735263 31735263 G C snp 1825.77 1/1 99 67 0 67 1.0 intronic rs34173 PPP1R17 AD NM_006658 exon3 c.3180+28G>C 0.776558 0.8502 0.757573 0.6987 0.8639 Uncertain 7_31735297_T->G 7 31735297 31735297 T G snp 428.77 0/1 99 47 28 19 0.4 intronic rs34174 PPP1R17 AD NM_006658 exon3 c.3180+62T>G 0.490415 0.6647 Uncertain 7_31735300_G->A 7 31735300 31735300 G A snp 401.77 0/1 99 44 25 19 0.43 intronic rs2240966 PPP1R17 AD NM_006658 exon3 c.3180+65G>A 0.200479 0.3591 Uncertain 7_31830095_A->G 7 31830095 31830095 A G snp 183.77 0/1 99 13 7 6 0.46 intronic rs982857 PDE1C AU NM_005020 exon1 c.14+222A>G 0.501198 0.5853 Uncertain 7_31848763_T->C 7 31848763 31848763 T C snp 1009.77 0/1 99 66 20 46 0.7 intronic rs113385926 PDE1C AU NM_001191059 exon3 c.55725+41T>C 0.0523163 0.0635 0.044972 0.0525 0.0424 Uncertain 7_31855420_A->G 7 31855420 31855420 A G snp 1559.77 0/1 99 109 52 57 0.52 intronic rs1860789 PDE1C AU NM_001191059 exon4 c.62540-117A>G 0.936102 0.9236 Uncertain 7_31855569_G->A 7 31855569 31855569 G A snp 3150.77 0/1 99 250 131 119 0.48 exonic rs2302450 PDE1C AU synonymous SNV NM_001191056 exon15 c.C1782T p.A594A 0.234625 0.1667 0.239582 0.2393 0.1714 Uncertain 7_31855578_G->A 7 31855578 31855578 G A snp 3723.77 0/1 99 250 111 139 0.56 exonic rs1860790 PDE1C AU synonymous SNV NM_001191056 exon15 c.C1773T p.N591N 0.950679 0.9236 0.968169 0.9696 0.9311 Uncertain 7_31863023_G->A 7 31863023 31863023 G A snp 79.77 0/1 69 6 2 4 0.67 intronic rs2072427 PDE1C AU NM_001191059 exon5 c.69865+161G>A 0.155551 0.1657 Uncertain 7_31876766_T->C 7 31876766 31876766 T C snp 3697.77 1/1 99 133 2 131 0.98 intronic rs2270218 PDE1C AU NM_001191059 exon8 c.83796-27T>C 0.742812 0.7669 0.751884 0.7409 0.7718 Uncertain 7_31890106_T->C 7 31890106 31890106 T C snp 514.77 1/1 39 14 0 14 1.0 intronic rs917756 PDE1C AU NM_001191059 exon11 c.97257-148T>C 0.996805 1 Uncertain 7_31912793_C->T 7 31912793 31912793 C T snp 594.77 1/1 45 16 0 16 1.0 intronic rs2302451 PDE1C AU NM_001191059 exon13 c.119907-111C>T 0.182508 0.2431 Uncertain 7_32090992_G->A 7 32090992 32090992 G A snp 159.77 0/1 63 8 3 5 0.63 intronic rs117888321 PDE1C AU NM_001191059 exon17 c.298168-173G>A 0.00798722 0.0397 Uncertain 7_32091215_A->T 7 32091215 32091215 A T snp 2113.77 0/1 99 169 79 90 0.53 intronic rs2072182 PDE1C AU NM_001191059 exon17 c.298195+23A>T 0.0357428 0.0694 0.029832 0.0408 0.0692 Uncertain 7_32110079_C->T 7 32110079 32110079 C T snp 575.77 0/1 99 47 22 25 0.53 UTR5 rs2301933 PDE1C AU 0.0427316 0.0853 Uncertain 7_32110115_C->G 7 32110115 32110115 C G snp 399.77 0/1 99 33 17 16 0.48 UTR5 rs30598 PDE1C AU 0.617812 0.5962 Uncertain 7_32209227_A->C 7 32209227 32209227 A C snp 559.77 1/1 42 16 0 16 1.0 intronic rs977623 PDE1C AU NM_001191058 exon17 c.416399-169A>C 0.337061 0.4067 Uncertain 7_32209283_T->C 7 32209283 32209283 T C snp 1951.77 1/1 99 60 0 60 1.0 intronic rs977624 PDE1C AU NM_001191058 exon17 c.416399-113T>C 0.336861 0.4067 Uncertain 7_32209376_T->C 7 32209376 32209376 T C snp 2001.77 0/1 99 169 84 85 0.5 intronic rs2072312 PDE1C AU NM_001191058 exon17 c.416399-20T>C 0.136581 0.2391 0.110917 0.1502 0.2622 Uncertain 7_32209425_A->G 7 32209425 32209425 A G snp 4543.77 1/1 99 172 0 172 1.0 exonic rs977625 PDE1C AU nonsynonymous SNV NM_001191058 exon3 c.T280C p.S94P 1 1 0.9999 1 1 T 1.0 P -0.893 T 0.0 T 0.0 T Pathogenic 7_32209459_C->T 7 32209459 32209459 C T snp 3712.77 1/1 99 140 0 140 1.0 exonic rs977626 PDE1C AU synonymous SNV NM_001191058 exon3 c.G246A p.E82E 0.55012 0.7579 0.424137 0.4716 0.7695 Uncertain 7_32248984_G->A 7 32248984 32248984 G A snp 2708.77 1/1 99 95 1 94 0.99 intronic rs10951324 PDE1C AU NM_001191058 exon18 c.456103-116G>A 0.507388 0.5347 Uncertain 7_32249216_A->G 7 32249216 32249216 A G snp 685.77 1/1 51 19 0 19 1.0 intronic rs2240676 PDE1C AU NM_001191058 exon18 c.456154+65A>G 0.422125 0.5347 Uncertain 7_32338337_G->A 7 32338337 32338337 G A snp 5303.77 1/1 99 200 0 200 1.0 exonic rs215607 PDE1C AU nonsynonymous SNV NM_001191058 exon1 c.C11T p.A4V 0.784545 0.7917 0.750000 0.8061 0.7948 0.06 T 1.0 P -0.878 T 0.012 T 0.008 T Pathogenic 7_32527009_G->A 7 32527009 32527009 G A snp 2574.77 0/1 99 189 80 109 0.58 intronic rs7800049 LSM5 AU NM_012322 exon1 c.33+104G>A 0.751997 0.869 Uncertain 7_32528366_C->T 7 32528366 32528366 C T snp 396.77 0/1 99 29 15 14 0.48 intronic rs35608030 LSM5 AU NM_012322 exon3 c.1392+102C>T 0.246006 0.1349 Uncertain 7_32529936_G->C 7 32529936 32529936 G C snp 2967.77 0/1 99 226 96 130 0.58 exonic rs1584614 LSM5 AU synonymous SNV NM_012322 exon1 c.C42G p.P14P 0.750998 0.8651 0.758189 0.7859 0.8168 Uncertain 7_32591135_G->A 7 32591135 32591135 G A snp 404.77 0/1 99 38 21 17 0.45 intronic rs3213972 AVL9 AU NM_015060 exon5 c.55714+100G>A 0.48722 0.6667 Uncertain 7_32591158_G->A 7 32591158 32591158 G A snp 254.77 0/1 99 25 14 11 0.44 intronic rs3213973 AVL9 AU NM_015060 exon5 c.55714+123G>A 0.620607 0.6677 Uncertain 7_32593235_T->- 7 32593235 32593235 T - indel 1409.73 1/1 99 69 5 64 0.93 intronic rs10717407 AVL9 AU NM_015060 exon7 c.58017-103delT 0.663938 0.6329 Uncertain 7_32593271_G->A 7 32593271 32593271 G A snp 1457.77 0/1 99 125 56 69 0.55 intronic rs6961786 AVL9 AU NM_015060 exon7 c.58017-67G>A 0.604233 0.6677 0.530223 Uncertain 7_32594278_A->G 7 32594278 32594278 A G snp 113.77 0/1 99 11 6 5 0.45 intronic rs2290210 AVL9 AU NM_015060 exon8 c.58887+70A>G 0.495607 0.6667 0.491417 Uncertain 7_32598087_G->A 7 32598087 32598087 G A snp 330.77 0/1 99 51 36 15 0.29 intronic rs12673921 AVL9 AU NM_015060 exon9 c.62849-83G>A 0.604034 0.6677 Uncertain 7_32598138_C->T 7 32598138 32598138 C T snp 382.77 0/1 99 48 29 19 0.4 intronic rs12673881 AVL9 AU NM_015060 exon9 c.62849-32C>T 0.604034 0.6677 0.616562 0.6523 0.6520 Uncertain 7_32598359_G->A 7 32598359 32598359 G A snp 124.77 0/1 64 7 2 5 0.71 intronic rs1562828 AVL9 AU NM_015060 exon9 c.62919+119G>A 0.604034 0.6677 Uncertain 7_32598524_G->A 7 32598524 32598524 G A snp 1523.77 1/1 99 47 0 47 1.0 intronic rs1466144 AVL9 AU NM_015060 exon10 c.63219-16G>A 0.844449 0.7996 0.836460 0.8402 0.8322 Uncertain 7_32598630_T->A 7 32598630 32598630 T A snp 2154.77 0/1 99 220 121 99 0.45 exonic rs2290213 AVL9 AU nonsynonymous SNV NM_015060 exon10 c.T769A p.C257S 0.155751 0.129 0.145471 0.1435 0.1787 0.77 T 0.0 P -0.993 T 0.0 T 0.0 T Pathogenic 7_32598656_C->T 7 32598656 32598656 C T snp 2213.77 0/1 99 224 126 98 0.44 exonic rs2290214 AVL9 AU synonymous SNV NM_015060 exon10 c.C795T p.S265S 0.240815 0.1319 0.219514 0.1919 0.1821 Uncertain 7_32609565_A->G 7 32609565 32609565 A G snp 1753.77 1/1 99 57 0 57 1.0 intronic rs2305320 AVL9 AU NM_015060 exon11 c.74310-66A>G 0.844449 0.7996 Uncertain 7_32613020_A->G 7 32613020 32613020 A G snp 1313.77 0/1 99 98 43 55 0.56 exonic rs1993050 AVL9 AU synonymous SNV NM_015060 exon12 c.A1560G p.T520T 0.56869 0.6677 0.583654 0.6422 0.6524 Uncertain 7_32615553_C->T 7 32615553 32615553 C T snp 4300.77 1/1 99 141 0 141 1.0 intronic rs6462381 AVL9 AU NM_015060 exon13 c.80245-13C>T 0.801717 0.7986 0.754190 0.7823 0.8323 Uncertain 7_32619653_T->A 7 32619653 32619653 T A snp 121.77 0/1 99 11 5 6 0.55 intronic rs6462383 AVL9 AU NM_015060 exon14 c.84509-177T>A 0.497204 0.6667 Uncertain 7_32620325_-->TG 7 32620325 32620325 - TG indel 140.73 0/1 99 15 10 5 0.33 intronic rs3217607 AVL9 AU NM_015060 exon15 c.85092-88insTG 0.561502 0.6657 Uncertain 7_32623477_C->G 7 32623477 32623477 C G snp 2498.77 0/1 99 219 102 117 0.53 exonic rs34778959 AVL9 AU synonymous SNV NM_015060 exon16 c.C1905G p.S635S 0.216254 0.1319 0.191835 0.1834 0.1814 0.5 T 0.746 P -0.996 T Likely benign 7_32660758_C->A 7 32660758 32660758 C A snp 470.77 0/1 99 50 31 19 0.38 ncRNA_intronic rs2302066 DPY19L1P1 AU 0.524361 0.6657 Uncertain 7_32715474_T->C 7 32715474 32715474 T C snp 33.77 0/1 62 14 10 4 0.29 ncRNA_intronic rs34569336 DPY19L1P1 AU 0.219249 0.1339 Uncertain 7_32861170_AT->- 7 32861170 32861171 AT - indel 2513.73 0/1 99 117 63 54 0.46 intergenic rs199906455 LINC00997 AU 0.20627 0.3165 Uncertain 7_32861230_C->G 7 32861230 32861230 C G snp 823.77 0/1 99 85 49 36 0.42 intergenic rs17170519 LINC00997 AU 0.244808 0.3165 Uncertain 7_32909182_G->A 7 32909182 32909182 G A snp 2309.77 0/1 99 200 105 95 0.47 exonic rs752730 KBTBD2 AU synonymous SNV NM_015483 exon4 c.C1647T p.Y549Y 0.192692 0.2242 0.174150 0.2335 0.2205 Uncertain 7_33003171_G->A 7 33003171 33003171 G A snp 903.77 0/1 99 85 43 42 0.49 exonic rs3110942 FKBP9 AU synonymous SNV NM_001284341 exon2 c.G237A p.A79A 0.325679 0.3433 0.5117 0.46 Uncertain 7_33014770_C->T 7 33014770 33014770 C T snp 691.77 0/1 99 49 23 26 0.53 intronic rs3750113 FKBP9 AU NM_001284341 exon4 c.17608-23C>T 0.0838658 0.1885 0.040674 0.0391 0.1912 Uncertain 7_33015902_C->T 7 33015902 33015902 C T snp 309.77 0/1 99 27 13 14 0.52 intronic rs3750115 FKBP9 AU NM_001284341 exon5 c.18780-63C>T 0.0780751 0.1885 Uncertain 7_33016120_G->T 7 33016120 33016120 G T snp 2009.77 1/1 99 81 0 81 1.0 intronic rs3750116 FKBP9 AU NM_001284341 exon5 c.18926+9G>T 0.879193 0.7937 0.870943 0.9202 0.8447 Uncertain 7_33016142_T->C 7 33016142 33016142 T C snp 413.77 0/1 99 68 42 26 0.38 intronic rs118076591 FKBP9 AU NM_001284341 exon5 c.18926+31T>C 0.0838658 0.1885 0.0311 0.1596 Uncertain 7_33019068_C->T 7 33019068 33019068 C T snp 904.77 0/1 99 56 25 31 0.55 intronic rs6942780 FKBP9 AU NM_001284341 exon6 c.22790-907C>T 0.0842652 0.1885 Uncertain 7_33019252_T->A 7 33019252 33019252 T A snp 1314.77 0/1 99 108 48 60 0.56 intronic rs6963277 FKBP9 AU NM_001284343 exon1 c.7+57T>A 0.0836661 0.1885 Uncertain 7_33020182_A->G 7 33020182 33020182 A G snp 1033.77 0/1 99 93 51 42 0.45 intronic rs115452449 FKBP9 AU NM_001284343 exon2 c.977+17A>G 0.0794728 0.1954 0.033215 0.0328 0.2018 Uncertain 7_33020235_A->G 7 33020235 33020235 A G snp 378.77 0/1 99 32 17 15 0.47 intronic rs149273148 FKBP9 AU NM_001284343 exon2 c.977+70A>G 0.0826677 0.2014 Uncertain 7_33027944_T->C 7 33027944 33027944 T C snp 40.74 1/1 6 2 0 2 1.0 intronic rs3763474 FKBP9 AU NM_001284343 exon3 c.8930-174T>C 0.426518 0.4812 Uncertain 7_33060755_A->C 7 33060755 33060755 A C snp 295.77 0/1 99 37 25 12 0.32 intronic rs17170153 NT5C3A AR NM_001166118 exon5 c.6542-128A>C 0.0810703 0.1825 Uncertain 7_33136983_G->A 7 33136983 33136983 G A snp 3186.77 1/1 99 119 0 119 1.0 intronic rs6462460 RP9 AD NM_203288 exon3 c.2129+9G>A 0.996605 1 0.994003 0.9938 0.9991 Uncertain 7_33139147_G->A 7 33139147 33139147 G A snp 654.77 0/1 99 58 30 28 0.48 intronic rs17472556 RP9 AD NM_203288 exon4 c.4203+99G>A 0.497804 0.4464 Uncertain 7_33186082_C->G 7 33186082 33186082 C G snp 2592.77 1/1 99 79 0 79 1.0 intronic rs1969575 BBS9 AR NM_014451 exon2 c.112+106C>G 0.79393 0.7014 Uncertain 7_33282577_G->A 7 33282577 33282577 G A snp 2134.77 0/1 99 188 93 95 0.51 intronic rs7793096 BBS9 AR NM_014451 exon6 c.110983-14270G>A 0.455471 0.4732 0.481863 0.5043 0.4678 Uncertain 7_33297109_CA->- 7 33297109 33297110 CA - indel 418.73 0/1 99 23 7 16 0.7 intronic rs142354634 BBS9 AR NM_014451 exon6 c.111158+87_111158+88delCA 0.136382 0.1627 Uncertain 7_33380598_G->T 7 33380598 33380598 G T snp 1462.77 0/1 99 149 77 72 0.48 intronic rs11981364 BBS9 AR NM_014451 exon11 c.194721+13G>T 0.199081 0.0843 0.276342 0.2435 0.0721 Uncertain 7_33380673_T->C 7 33380673 33380673 T C snp 848.77 0/1 99 76 40 36 0.47 intronic rs10486527 BBS9 AR NM_014451 exon11 c.194721+88T>C 0.199481 0.0843 Uncertain 7_33385852_C->T 7 33385852 33385852 C T snp 4868.77 1/1 99 172 0 172 1.0 intronic rs6974593 BBS9 AR NM_014451 exon12 c.198382+1606C>T 0.917532 0.751 0.9520 0.7510 Uncertain 7_33388618_C->T 7 33388618 33388618 C T snp 570.77 1/1 42 18 0 18 1.0 intronic rs9785054 BBS9 AR NM_014451 exon13 c.202815-61C>T 0.983227 0.9931 Uncertain 7_33391094_A->T 7 33391094 33391094 A T snp 108.77 0/1 99 10 6 4 0.4 intronic rs76983967 BBS9 AR NM_001033605 exon14 c.205071+159A>T 0.0678914 0.0804 0.1054 0.0789 Uncertain 7_33644941_T->C 7 33644941 33644941 T C snp 1045.77 0/1 99 58 19 39 0.67 UTR3 rs1050719 BBS9 AR 0.551717 0.5962 Uncertain 7_33644948_C->T 7 33644948 33644948 C T snp 962.77 0/1 99 54 19 35 0.65 UTR3 rs1050721 BBS9 AR 0.609824 0.6815 Uncertain 7_34125420_G->T 7 34125420 34125420 G T snp 2650.77 0/1 99 232 118 114 0.49 exonic rs77064045 BMPER AR synonymous SNV NM_133468 exon14 c.G1461T p.P487P 0.189297 0.1002 0.247270 0.2434 0.1011 Uncertain 7_34192762_G->C 7 34192762 34192762 G C snp 4291.77 1/1 99 162 0 162 1.0 exonic rs6968741 BMPER AR synonymous SNV NM_133468 exon16 c.G1935C p.T645T 0.910144 0.998 0.903045 0.9353 0.9997 Uncertain 7_34685772_A->G 7 34685772 34685772 A G snp 442.77 0/1 99 52 30 22 0.42 ncRNA_intronic rs1582277 NPSR1-AS1 AU 0.629393 0.6419 0.5865 0.6364 Uncertain 7_34697982_A->G 7 34697982 34697982 A G snp 350.78 1/1 27 12 0 12 1.0 ncRNA_intronic rs887020 NPSR1-AS1 AU 0.487819 0.8036 0.423651 0.5369 0.7901 Uncertain 7_34818113_A->T 7 34818113 34818113 A T snp 3044.77 0/1 99 250 128 122 0.49 exonic rs324981 NPSR1 AU nonsynonymous SNV NM_207173 exon3 c.A320T p.N107I 0.467452 0.5288 0.489697 0.4465 0.5304 1 T 0.0 P -0.940 T 0.0 T 0.0 T CLINSIG=other;CLNDBN=ASTHMA-RELATED_TRAITS\x2c_SUSCEPTIBILITY_TO\x2c_2;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000002276.1;CLNDSDB=MedGen:OMIM;CLNDSDBID=C1837811:608584 ID=CM073245;DIS=Panic disorder, in males, association with;TAG=DFP;PUB=17669576 DFP Pathogenic 7_34851393_C->G 7 34851393 34851393 C G snp 1003.77 0/1 99 89 44 45 0.51 exonic rs9655357 NPSR1 AU synonymous SNV NM_207173 exon4 c.C396G p.L132L 0.148562 0.3165 0.137629 0.1789 0.3180 Uncertain 7_34874209_C->G 7 34874209 34874209 C G snp 2000.77 1/1 99 59 0 59 1.0 intronic rs17170017 NPSR1 AU NM_207173 exon6 c.176048+137C>G 0.249002 0.4058 Uncertain 7_34979082_C->T 7 34979082 34979082 C T snp 270.8 1/1 21 11 0 11 1.0 intronic rs3735410 DPY19L1 AU NM_015283 exon3 c.7803+95C>T 0.209864 0.246 Uncertain 7_34979748_-->T 7 34979748 34979748 - T indel 161.14 1/1 10 17 1 16 0.94 intronic rs374009680 DPY19L1 AU NM_015283 exon4 c.8580-16insT 0.1871 0.2310 Uncertain 7_34981591_-->T 7 34981591 34981591 - T indel 597.73 1/1 45 16 0 16 1.0 intronic rs35242437 DPY19L1 AU NM_015283 exon5 c.10312+95insT 0.205871 0.2431 Uncertain 7_35009183_G->A 7 35009183 35009183 G A snp 141.03 1/1 12 4 0 4 1.0 intronic rs62461951 DPY19L1 AU NM_015283 exon14 c.37960+39G>A 0.222843 0.245 0.167855 0.2385 0.2338 Uncertain 7_35050217_A->G 7 35050217 35050217 A G snp 2301.77 1/1 99 89 0 89 1.0 intronic rs7782779 DPY19L1 AU NM_015283 exon17 c.78989+44A>G 0.217652 0.2391 0.2221 0.2183 Uncertain 7_35289756_C->T 7 35289756 35289756 C T snp 1023.77 0/1 99 88 47 41 0.47 exonic rs201839825 TBX20 AU nonsynonymous SNV NM_001077653 exon2 c.G187A p.A63T 0.000399361 0.000077 0.0007 0.0014 0.6 T 0.596 N -0.568 T 0.0 T 0.001 T ID=CM086969;DIS=Congenital heart disease;TAG=DM?;PUB=18834961 DM? Pathogenic 7_35289889_-->A 7 35289889 35289889 - A indel 1145.73 1/1 90 33 0 33 1.0 intronic rs397953087 TBX20 AU NM_001166220 exon5 c.18704+74insA 1 1 Uncertain 7_35289941_-->A 7 35289941 35289941 - A indel 217.8 1/1 18 6 0 6 1.0 intronic rs397783889 TBX20 AU NM_001166220 exon5 c.18704+126insA 1 1 Uncertain 7_35293193_A->G 7 35293193 35293193 A G snp 1568.77 1/1 99 57 0 57 1.0 exonic rs336283 TBX20 AU synonymous SNV NM_001077653 exon1 c.T39C p.S13S 0.69389 0.5893 0.746271 0.6767 0.5654 Uncertain 7_35414453_T->C 7 35414453 35414453 T C snp 1209.77 0/1 99 80 33 47 0.59 ncRNA_exonic rs17608167 LOC401324 AU 0.279153 0.4246 Uncertain 7_35414769_C->T 7 35414769 35414769 C T snp 1448.77 0/1 99 145 84 61 0.42 ncRNA_exonic rs2553113 LOC401324 AU 0.483626 0.496 Uncertain 7_35414772_C->T 7 35414772 35414772 C T snp 1432.77 0/1 99 140 81 59 0.42 ncRNA_exonic rs2553114 LOC401324 AU 0.483626 0.496 Uncertain 7_35673799_T->C 7 35673799 35673799 T C snp 373.77 0/1 99 21 9 12 0.57 intronic rs2305333 HERPUD2 AU NM_022373 exon2 c.622-122T>C 0.652157 0.7321 Uncertain 7_35678214_C->T 7 35678214 35678214 C T snp 178.77 0/1 99 11 5 6 0.55 intronic rs3816422 HERPUD2 AU NM_022373 exon4 c.4783+132C>T 0.69988 0.7302 Uncertain 7_35709963_A->- 7 35709963 35709963 A - indel 1085.73 0/1 99 66 30 36 0.55 intronic rs3837111 HERPUD2 AU NM_022373 exon6 c.36639+25delA 0.142173 0.1964 0.065825 0.0882 0.1782 Uncertain 7_35840898_-->C 7 35840898 35840898 - C indel 1771.73 1/1 99 40 0 40 1.0 intronic rs59008252 SEPT7 AU NM_001788 exon1 c.64+15insC 0.999546 1 1 Uncertain 7_35841886_A->G 7 35841886 35841886 A G snp 2343.77 0/1 99 196 96 100 0.51 intronic rs74849143 SEPT7 AU NM_001788 exon1 c.64+1003A>G 0.135783 0.1429 0.085782 0.1113 0.1358 Uncertain 7_35928551_A->G 7 35928551 35928551 A G snp 447.77 0/1 99 77 52 25 0.32 intronic rs6945909 SEPT7 AU NM_001788 exon10 c.89458-1726A>G 0.302716 0.3849 Uncertain 7_35928678_T->A 7 35928678 35928678 T A snp 286.77 0/1 99 17 8 9 0.53 intronic rs58918750 SEPT7 AU NM_001788 exon10 c.89458-1599T>A 0.497404 0.5208 Uncertain 7_36124292_G->A 7 36124292 36124292 G A snp 4273.77 1/1 99 155 0 155 1.0 intergenic rs1986593 SEPT7 AU 0.808906 0.8661 0.7712 0.8636 Uncertain 7_36320821_G->A 7 36320821 36320821 G A snp 2996.77 1/1 99 110 0 110 1.0 exonic rs196586 EEPD1 AU nonsynonymous SNV NM_030636 exon4 c.G1028A p.S343N 0.941693 0.9712 0.942027 0.9617 0.9533 0.54 T 0.0 P -0.971 T 0.0 T 0.002 T Pathogenic 7_36327410_A->G 7 36327410 36327410 A G snp 4304.77 1/1 99 153 1 152 0.99 intronic rs196595 EEPD1 AU NM_030636 exon6 c.133453+24A>G 0.506789 0.7857 0.364447 0.4155 0.7426 Uncertain 7_36338749_T->C 7 36338749 36338749 T C snp 6391.77 1/1 99 250 0 250 1.0 exonic rs196613 EEPD1 AU synonymous SNV NM_030636 exon8 c.T1644C p.D548D 0.942692 0.9742 0.943718 0.9695 0.9754 0.962 P -1.032 T Likely benign 7_36338841_T->C 7 36338841 36338841 T C snp 1682.77 0/1 99 146 77 69 0.47 UTR3 rs196614 EEPD1 AU 0.353435 0.4345 0.407274 0.4353 0.4458 Uncertain 7_36366569_A->T 7 36366569 36366569 A T snp 1526.77 1/1 99 53 0 53 1.0 intronic rs196655 KIAA0895 AU NM_001199708 exon1 c.159+42A>T 0.458067 0.5099 0.402773 0.4930 0.5423 Uncertain 7_36370499_C->G 7 36370499 36370499 C G snp 1217.77 1/1 87 44 0 44 1.0 intronic rs196659 KIAA0895 AU NM_001199708 exon2 c.4222-91C>G 0.974441 1 Uncertain 7_36370555_G->T 7 36370555 36370555 G T snp 1883.77 1/1 99 69 0 69 1.0 intronic rs196660 KIAA0895 AU NM_001199708 exon2 c.4222-35G>T 0.942292 0.9772 0.940270 0.9612 0.9797 Uncertain 7_36396358_G->A 7 36396358 36396358 G A snp 381.77 1/1 30 10 0 10 1.0 intronic rs197328 KIAA0895 AU NM_001199708 exon6 c.30142-152G>A 0.445088 0.4921 Uncertain 7_36396593_T->C 7 36396593 36396593 T C snp 3044.77 0/1 99 246 123 123 0.5 exonic rs61735496 KIAA0895 AU nonsynonymous SNV NM_001199706 exon2 c.A632G p.N211S 0.00119808 0.006 0.0009 0.0112 0.06 T 1.000 D -0.326 T 0.989 D 0.879 D Pathogenic 7_36423386_C->T 7 36423386 36423386 C T snp 217.77 0/1 99 22 13 9 0.41 intronic rs149495204 KIAA0895 AU NM_001100425 exon6 c.57099-81C>T 0.0838658 0.2173 Uncertain 7_36435745_C->G 7 36435745 36435745 C G snp 77.77 0/1 99 7 4 3 0.43 intronic rs10215150 ANLN AD NM_001284302 exon2 c.6239-129C>G 0.240216 0.4008 Uncertain 7_36445856_G->A 7 36445856 36445856 G A snp 4326.77 1/1 99 157 0 157 1.0 exonic rs197367 ANLN AD nonsynonymous SNV NM_018685 exon4 c.G554A p.R185K 0.620607 0.7153 0.539059 0.6503 0.7295 1 T 0.0 P -0.945 T 0.0 T 0.0 T Pathogenic 7_36447349_-->CTT 7 36447349 36447349 - CTT indel 2619.73 0/1 99 105 51 54 0.51 exonic rs143969069 ANLN AD nonframeshift insertion NM_018685 exon5 c.880_881insCTT p.T294delinsTS 0.449481 0.6101 0.384345 0.4258 0.5987 ID=COSM1450550;OCCURENCE=1(large_intestine) Uncertain 7_36447600_T->C 7 36447600 36447600 T C snp 637.77 0/1 99 75 50 25 0.33 intronic rs3801315 ANLN AD NM_001284302 exon5 c.17930+35T>C 0.449481 0.6101 0.381132 0.4616 0.6311 Uncertain 7_36456614_C->A 7 36456614 36456614 C A snp 56.74 1/1 6 2 0 2 1.0 intronic rs3779226 ANLN AD NM_018685 exon9 c.27053-74C>A 0.482228 0.6161 Uncertain 7_36458828_G->A 7 36458828 36458828 G A snp 1241.77 1/1 90 39 0 39 1.0 intronic rs17170590 ANLN AD NM_001284301 exon9 c.29217-24G>A 0.272564 0.4028 0.229125 0.2640 0.4192 Uncertain 7_36460420_A->- 7 36460420 36460420 A - indel 4376.73 1/1 99 115 0 115 1.0 intronic rs56075305 ANLN AD NM_001284302 exon11 c.30718+67delA Uncertain 7_36460467_T->A 7 36460467 36460467 T A snp 1799.77 1/1 99 69 0 69 1.0 intronic rs56385393 ANLN AD NM_001284302 exon11 c.30718+114T>A 0.125599 0.2183 Uncertain 7_36462205_G->A 7 36462205 36462205 G A snp 867.77 1/1 66 26 0 26 1.0 intronic rs2302526 ANLN AD NM_001284302 exon13 c.32606-36G>A 0.272165 0.4038 0.228042 0.2630 0.4193 Uncertain 7_36463335_A->G 7 36463335 36463335 A G snp 216.84 1/1 18 6 0 6 1.0 intronic rs2302527 ANLN AD NM_001284302 exon14 c.33790-90A>G 0.536142 0.6567 Uncertain 7_36465193_G->A 7 36465193 36465193 G A snp 56.74 1/1 6 2 0 2 1.0 intronic rs55815516 ANLN AD NM_001284302 exon17 c.35675-117G>A Uncertain 7_36465194_C->T 7 36465194 36465194 C T snp 56.74 1/1 6 2 0 2 1.0 intronic rs55763722 ANLN AD NM_001284302 exon17 c.35675-116C>T Uncertain 7_36465570_T->C 7 36465570 36465570 T C snp 937.77 1/1 69 26 1 25 0.96 intronic rs6957214 ANLN AD NM_001284302 exon18 c.35988-53T>C 0.535144 0.6567 0.519690 Uncertain 7_36465606_-->T 7 36465606 36465606 - T indel 129.77 1/1 20 19 1 18 0.95 intronic rs200742993 ANLN AD NM_001284302 exon18 c.35988-17insT 0.0524 0.2014 Uncertain 7_36466655_C->A 7 36466655 36466655 C A snp 1300.77 1/1 96 43 0 43 1.0 intronic rs3815484 ANLN AD NM_001284302 exon19 c.37002+18C>A 0.126198 0.2212 0.101261 0.1249 0.2232 Uncertain 7_36466669_T->G 7 36466669 36466669 T G snp 804.77 1/1 63 24 0 24 1.0 intronic rs3815485 ANLN AD NM_001284302 exon19 c.37002+32T>G 0.274161 0.4087 0.195986 0.3170 0.4601 Uncertain 7_36483213_T->C 7 36483213 36483213 T C snp 174.9 1/1 15 5 0 5 1.0 intronic rs2286961 ANLN AD NM_001284302 exon21 c.53728-150T>C 0.272764 0.4087 Uncertain 7_36489477_A->G 7 36489477 36489477 A G snp 3144.77 1/1 99 103 0 103 1.0 intronic rs3801304 ANLN AD NM_001284302 exon22 c.59811+31A>G 0.129992 0.2202 0.104183 0.1273 0.2242 Uncertain 7_36492045_G->A 7 36492045 36492045 G A snp 3326.77 1/1 99 120 0 120 1.0 intronic rs3801302 ANLN AD NM_001284302 exon23 c.62450-40G>A 0.272364 0.4077 0.226665 0.2569 0.4194 Uncertain 7_36552656_G->A 7 36552656 36552656 G A snp 2408.77 0/1 99 223 117 106 0.48 UTR3 rs7986 AOAH AU 0.215655 0.1468 0.3883 0.2428 0 D 0.0 P -0.976 T Uncertain 7_36552729_-->T 7 36552729 36552729 - T indel 9570.73 1/1 99 248 0 248 1.0 UTR3 rs59476355 AOAH AU 0.9998 1 1.0000 0.9999 Uncertain 7_36552790_-->T 7 36552790 36552790 - T indel 8999.73 1/1 99 234 0 234 1.0 UTR3 rs57543920 AOAH AU 0.877396 0.7609 0.9997 0.9997 Uncertain 7_36553943_G->C 7 36553943 36553943 G C snp 41.77 0/1 70 4 2 2 0.5 intronic rs9648053 AOAH AU NM_001177506 exon2 c.1438-134G>C 0.420927 0.6002 Uncertain 7_36561469_G->T 7 36561469 36561469 G T snp 568.77 1/1 45 15 0 15 1.0 intronic rs6462681 AOAH AU NM_001637 exon2 c.8787-175G>T 1 1 Uncertain 7_36569907_G->A 7 36569907 36569907 G A snp 2235.77 1/1 99 77 0 77 1.0 intronic rs3735393 AOAH AU NM_001637 exon3 c.17166-116G>A 0.375998 0.5615 Uncertain 7_36656104_T->A 7 36656104 36656104 T A snp 1522.77 0/1 99 129 64 65 0.5 intronic rs750833586 AOAH AU NM_001637 exon11 c.103223+24T>A 9.316e-06 0.0001 Uncertain 7_36656147_A->T 7 36656147 36656147 A T snp 2116.77 1/1 99 71 0 71 1.0 intronic rs2727818 AOAH AU NM_001637 exon11 c.103223+67A>T 0.666334 0.5496 Uncertain 7_36656205_A->G 7 36656205 36656205 A G snp 225.77 0/1 99 17 8 9 0.53 intronic rs13235549 AOAH AU NM_001637 exon11 c.103223+125A>G 0.220048 0.1974 Uncertain 7_36661423_T->C 7 36661423 36661423 T C snp 4598.77 1/1 99 166 0 166 1.0 intronic rs2727822 AOAH AU NM_001637 exon14 c.108529+37T>C 0.639776 0.5665 0.652084 0.6547 0.5887 Uncertain 7_36698592_T->G 7 36698592 36698592 T G snp 301.77 0/1 99 15 5 10 0.67 intronic rs6979282 AOAH AU NM_001637 exon18 c.145913-178T>G 0.733227 0.8472 Uncertain 7_36726137_T->- 7 36726137 36726137 T - indel 306.79 0/1 19 14 2 12 0.86 intronic rs60875600 AOAH AU NM_001637 exon20 c.173446-166delT 0.234625 0.2827 Uncertain 7_36729757_T->C 7 36729757 36729757 T C snp 2947.77 1/1 99 109 0 109 1.0 intronic rs7790095 AOAH AU NM_001637 exon20 c.173542+3358T>C 0.822284 0.9444 0.7353 0.9091 Uncertain 7_36729822_-->A 7 36729822 36729822 - A indel 3997.73 1/1 99 139 0 139 1.0 intronic rs11427708 AOAH AU NM_001637 exon20 c.173542+3423insA 0.817692 0.9435 0.7260 0.8990 Uncertain 7_36729951_C->T 7 36729951 36729951 C T snp 1047.77 1/1 78 31 0 31 1.0 intronic rs6462691 AOAH AU NM_001637 exon20 c.173542+3552C>T 0.616214 0.8552 Uncertain 7_36729984_C->T 7 36729984 36729984 C T snp 472.77 1/1 36 12 0 12 1.0 intronic rs6462692 AOAH AU NM_001637 exon20 c.173542+3585C>T 0.616214 0.8552 Uncertain 7_36763560_C->T 7 36763560 36763560 C T snp 620.77 0/1 99 48 26 22 0.46 intronic rs6462703 AOAH AU NM_001637 exon21 c.210769-66C>T 0.303914 0.253 Uncertain 7_36763672_C->T 7 36763672 36763672 C T snp 1161.77 0/1 99 132 80 52 0.39 exonic rs2228410 AOAH AU nonsynonymous SNV NM_001637 exon1 c.G82A p.D28N 0.351038 0.5248 0.267031 0.3714 0.5113 0.37 T 0.0 P -1.000 T 0.032 T 0.003 T ID=CM064972;DIS=Colorectal cancer, increased risk, association with;TAG=DP;PUB=17000706 DP Pathogenic 7_36763688_C->T 7 36763688 36763688 C T snp 1821.77 0/1 99 133 50 83 0.62 exonic rs2228411 AOAH AU synonymous SNV NM_001637 exon1 c.G66A p.S22S 0.378195 0.4177 0.411425 0.3245 0.4066 Uncertain 7_36934448_A->G 7 36934448 36934448 A G snp 2450.77 1/1 99 82 0 82 1.0 intronic rs6462722 ELMO1 AU NM_001039459 exon6 c.39303-10A>G 0.961262 0.999 0.943641 0.9729 1 Uncertain 7_37272514_T->C 7 37272514 37272514 T C snp 44.77 0/1 31 3 1 2 0.67 intronic rs41501844 ELMO1 AU NM_014800 exon15 c.377544-185T>C 0.0515176 0.0446 Uncertain 7_37298722_T->C 7 37298722 37298722 T C snp 447.77 0/1 99 33 16 17 0.52 intronic rs17170970 ELMO1 AU NM_014800 exon17 c.403630-63T>C 0.0666933 0.0893 Uncertain 7_37311391_G->A 7 37311391 37311391 G A snp 1272.77 0/1 99 106 52 54 0.51 intronic rs72624207 ELMO1 AU NM_014800 exon18 c.416281-45G>A 0.0523163 0.0933 0.014301 0.0345 0.0738 Uncertain 7_37355402_T->C 7 37355402 37355402 T C snp 266.77 0/1 99 27 18 9 0.33 intronic rs57974141 ELMO1 AU NM_014800 exon20 c.460368-121T>C 0.0305511 0.0873 Uncertain 7_37355590_-->T 7 37355590 37355590 - T indel 1670.73 1/1 99 44 0 44 1.0 intronic rs11383031 ELMO1 AU NM_014800 exon20 c.460409+26insT 0.997604 1 0.998000 0.9994 1 Uncertain 7_37889786_A->G 7 37889786 37889786 A G snp 104.77 0/1 99 13 9 4 0.31 intronic rs10271309 NME8 AR 0.295727 0.3155 0.361683 Uncertain 7_37901581_G->A 7 37901581 37901581 G A snp 5183.77 1/1 99 201 0 201 1.0 intronic rs2249451 NME8 AR NM_016616 exon7 c.11761-48G>A 0.836861 0.6508 0.934722 0.8885 0.6945 Uncertain 7_37903853_A->T 7 37903853 37903853 A T snp 883.77 1/1 63 35 0 35 1.0 intronic rs3816419 NME8 AR NM_016616 exon9 c.14081-96A>T 0.439497 0.3313 Uncertain 7_37903904_C->T 7 37903904 37903904 C T snp 932.77 1/1 69 35 0 35 1.0 intronic rs3816418 NME8 AR NM_016616 exon9 c.14081-45C>T 0.740615 0.5466 0.790824 0.7410 0.5825 Uncertain 7_37904066_AAC->- 7 37904066 37904068 AAC - indel 259.87 1/1 15 6 0 6 1.0 intronic rs3841582 NME8 AR NM_016616 exon9 c.14155+43_14155+45delAAC 0.439497 0.3313 0.523229 0.5653 0.3793 Uncertain 7_37904099_G->A 7 37904099 37904099 G A snp 59.74 1/1 6 4 0 4 1.0 intronic rs3816417 NME8 AR NM_016616 exon9 c.14155+76G>A 0.438299 0.3313 Uncertain 7_37907304_T->C 7 37907304 37907304 T C snp 1878.77 1/1 99 56 0 56 1.0 exonic rs10250905 NME8 AR nonsynonymous SNV NM_016616 exon11 c.T622C p.C208R 0.743411 0.5466 0.787098 0.7383 0.5651 0.267 P -1.005 T 0.001 T 0.0 T CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000151568.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 7_37916311_A->T 7 37916311 37916311 A T snp 50.74 1/1 6 2 0 2 1.0 intronic rs2598022 NME8 AR NM_016616 exon12 c.26565-122A>T 0.350439 0.5228 Uncertain 7_37923849_G->A 7 37923849 37923849 G A snp 158.77 0/1 97 8 3 5 0.63 intronic rs1993052 NME8 AR NM_016616 exon13 c.34036-55G>A 0.549321 0.7421 Uncertain 7_37924737_T->G 7 37924737 37924737 T G snp 1240.77 0/1 99 101 54 47 0.47 intronic rs1530822 NME8 AR NM_016616 exon14 c.34878-9T>G 0.553315 0.7421 0.441095 0.5320 0.7507 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000151571.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 7_37924879_A->G 7 37924879 37924879 A G snp 2733.77 0/1 99 226 108 118 0.52 intronic rs2242027 NME8 AR NM_016616 exon14 c.34986+25A>G 0.553315 0.7421 0.441258 0.5282 0.7520 Uncertain 7_37927779_T->G 7 37927779 37927779 T G snp 529.77 0/1 99 40 20 20 0.5 intronic rs2251179 NME8 AR NM_016616 exon15 c.38010-99T>G 0.553514 0.7421 Uncertain 7_37933983_C->G 7 37933983 37933983 C G snp 547.77 0/1 99 31 10 21 0.68 intronic rs10260487 NME8 AR NM_016616 exon16 c.44199-84C>G 0.616414 0.6776 Uncertain 7_37934234_G->A 7 37934234 37934234 G A snp 74.77 0/1 99 8 5 3 0.38 intronic rs10261071 NME8 AR NM_016616 exon16 c.44344+22G>A 0.612021 0.6776 0.651262 0.6596 0.7036 Uncertain 7_37936384_T->C 7 37936384 37936384 T C snp 150.77 0/1 99 10 5 5 0.5 intronic rs2598119 NME8 AR NM_016616 exon17 c.46603-87T>C 0.902556 0.9276 Uncertain 7_37936530_T->C 7 37936530 37936530 T C snp 2122.77 0/1 99 163 76 87 0.53 exonic rs3213975 NME8 AR synonymous SNV NM_016616 exon17 c.T1603C p.L535L 0.20647 0.2292 0.229433 0.2410 0.2335 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000151573.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 7_37946949_G->A 7 37946949 37946949 G A snp 365.77 0/1 99 21 10 11 0.52 UTR3 rs62446002 SFRP4 AR 0.0511182 0.0724 Uncertain 7_37951726_G->A 7 37951726 37951726 G A snp 484.77 0/1 99 45 25 20 0.44 exonic rs1132553 SFRP4 AR synonymous SNV NM_003014 exon4 c.C786T p.R262R 0.439097 0.3651 0.565970 0.5331 0.3666 Uncertain 7_37953720_C->A 7 37953720 37953720 C A snp 488.77 0/1 99 46 27 19 0.41 intronic rs2248554 SFRP4 AR NM_003014 exon4 c.6734-94C>A 0.545727 0.6339 Uncertain 7_37953840_C->T 7 37953840 37953840 C T snp 2481.77 0/1 99 213 101 112 0.53 exonic rs1132552 SFRP4 AR synonymous SNV NM_003014 exon3 c.G567A p.T189T 0.54393 0.6339 0.417115 0.4616 0.6334 Uncertain 7_37960715_T->C 7 37960715 37960715 T C snp 1003.77 0/1 99 99 53 46 0.46 exonic rs149991556 EPDR1 AU synonymous SNV NM_001242946 exon1 c.T174C p.S58S 0.00978435 0.0466 0.000160 0.0052 0.0628 Uncertain 7_37960835_G->A 7 37960835 37960835 G A snp 839.77 0/1 99 67 34 33 0.49 intronic rs13240429 EPDR1 AU NM_017549 exon1 c.269+25G>A 0.234425 0.2252 0.218159 0.2565 0.2322 Uncertain 7_37960955_T->G 7 37960955 37960955 T G snp 1525.77 1/1 99 56 0 56 1.0 UTR5 rs4723716 EPDR1 AU 1 1 1 1 Uncertain 7_37988589_C->T 7 37988589 37988589 C T snp 1404.77 0/1 99 122 65 57 0.47 exonic rs2044831 EPDR1 AU synonymous SNV NM_001242948 exon2 c.C234T p.I78I 0.658946 0.5933 0.699062 0.7415 0.5996 Uncertain 7_37989775_T->C 7 37989775 37989775 T C snp 997.77 0/1 99 64 30 34 0.53 intronic rs1450851 EPDR1 AU NM_017549 exon3 c.29260-26T>C 0.636382 0.4891 0.696876 0.6559 0.5082 Uncertain 7_38268395_C->T 7 38268395 38268395 C T snp 1397.77 1/1 99 57 0 57 1.0 splicing rs7795499 STARD3NL AU NM_032016 exon8 c.21294-4C>T 0.435703 0.4812 0.417564 0.4598 0.4739 Pathogenic 7_38299727_T->C 7 38299727 38299727 T C snp 1107.77 0/1 99 151 87 64 0.42 exonic rs138027161 TARP AU nonsynonymous SNV NM_001003806 exon4 c.A298G p.R100G 0.4396 0.4915 Pathogenic 7_38299872_C->T 7 38299872 38299872 C T snp 137.77 0/1 99 31 21 10 0.32 intronic rs13308057 TARP AU NM_001003806 exon1 c.143+41C>T 0.503195 0.4365 0.0262 0.0178 Uncertain 7_38339604_C->T 7 38339604 38339604 C T snp 2720.77 0/1 99 226 105 121 0.54 intergenic rs4723740 TARP AU 0.0778754 0.1052 0.0368 0.0707 Uncertain 7_38356849_C->T 7 38356849 38356849 C T snp 2095.77 0/1 99 212 117 95 0.45 intergenic rs56794613 TARP AU 0.186302 0.3333 0.144510 0.1816 0.3657 Uncertain 7_38356943_-->A 7 38356943 38356943 - A indel 811.73 0/1 99 82 38 44 0.54 intergenic rs34482025 TARP AU 0.462859 0.4484 0.447312 0.4459 0.4428 Uncertain 7_38388735_A->G 7 38388735 38388735 A G snp 394.77 1/1 30 31 6 25 0.81 ncRNA_intronic rs191612253 TRG-AS1 AU 0.105232 0.1498 0.1410 0.4022 Uncertain 7_38388761_G->T 7 38388761 38388761 G T snp 421.77 1/1 33 28 13 15 0.54 ncRNA_intronic rs182511589 TRG-AS1 AU 0.00219649 0.0109 0.0010 0.0897 Uncertain 7_38388895_A->T 7 38388895 38388895 A T snp 1096.77 1/1 81 33 0 33 1.0 ncRNA_intronic rs76205258 TRG-AS1 AU 0.136581 0.1726 0.1081 0.1922 Uncertain 7_38389290_T->A 7 38389290 38389290 T A snp 591.77 0/1 99 181 139 42 0.23 ncRNA_intronic rs148292986 TRG-AS1 AU 0.140176 0.0962 0.038468 0.1747 0.1160 Uncertain 7_38389291_T->C 7 38389291 38389291 T C snp 678.77 0/1 99 183 141 42 0.23 ncRNA_intronic rs143036661 TRG-AS1 AU 0.141573 0.0962 0.040722 0.1793 0.1179 Uncertain 7_38389410_G->C 7 38389410 38389410 G C snp 3515.77 1/1 99 131 0 131 1.0 ncRNA_intronic rs140194030 TRG-AS1 AU 0.213458 0.246 0.2806 0.2859 Uncertain 7_38389467_G->A 7 38389467 38389467 G A snp 198.77 0/1 99 25 17 8 0.32 ncRNA_intronic rs28527371 TRG-AS1 AU 0.1660 0.1130 Uncertain 7_38393279_T->- 7 38393279 38393279 T - indel 1419.73 1/1 99 37 0 37 1.0 ncRNA_intronic rs76380259 TRG-AS1 AU 0.114018 0.1429 0.115016 0.0905 0.1597 Uncertain 7_38393319_A->G 7 38393319 38393319 A G snp 2372.77 1/1 99 88 0 88 1.0 ncRNA_intronic rs201871758 TRG-AS1 AU 0.124201 0.1637 0.111975 0.0873 0.1573 Uncertain 7_38393343_T->C 7 38393343 38393343 T C snp 3208.76 1/1 99 118 0 118 1.0 ncRNA_intronic rs77429066 TRG-AS1 AU 0.124201 0.1637 0.113247 0.0858 0.1561 Uncertain 7_38393390_T->G 7 38393390 38393390 T G snp 3914.77 1/1 99 147 1 146 0.99 ncRNA_intronic rs73357290 TRG-AS1 AU 0.124002 0.1637 0.113676 0.0836 0.1538 Uncertain 7_38393424_G->A 7 38393424 38393424 G A snp 3950.77 1/1 99 149 0 149 1.0 ncRNA_intronic rs73357292 TRG-AS1 AU 0.124201 0.1637 0.112920 0.0824 0.1517 Uncertain 7_38393448_G->C 7 38393448 38393448 G C snp 3495.77 1/1 99 125 0 125 1.0 ncRNA_intronic rs78292907 TRG-AS1 AU 0.124201 0.1637 0.112552 0.0824 0.1516 Uncertain 7_38393524_C->T 7 38393524 38393524 C T snp 1909.77 1/1 99 59 0 59 1.0 ncRNA_intronic rs73357293 TRG-AS1 AU 0.124601 0.1647 0.112082 0.0818 0.1499 Uncertain 7_38393534_C->T 7 38393534 38393534 C T snp 1815.77 1/1 99 52 0 52 1.0 ncRNA_intronic rs74465876 TRG-AS1 AU 0.0680911 0.1647 0.056491 0.0655 0.1506 Uncertain 7_38393592_C->A 7 38393592 38393592 C A snp 1341.77 1/1 96 47 0 47 1.0 ncRNA_intronic rs34822522 TRG-AS1 AU 0.124201 0.1647 0.113192 0.0818 0.1507 Uncertain 7_38393654_T->G 7 38393654 38393654 T G snp 1533.77 1/1 99 60 0 60 1.0 ncRNA_intronic rs147704672 TRG-AS1 AU 0.124601 0.1647 0.113661 0.0812 0.1488 Uncertain 7_38393713_A->G 7 38393713 38393713 A G snp 1111.77 1/1 81 42 0 42 1.0 ncRNA_intronic rs2215952 TRG-AS1 AU 0.251198 0.1647 0.264154 0.2553 0.1455 Uncertain 7_38393798_A->G 7 38393798 38393798 A G snp 299.78 1/1 24 10 0 10 1.0 ncRNA_intronic rs3999882 TRG-AS1 AU 0.0645 0.1253 Uncertain 7_38397892_A->G 7 38397892 38397892 A G snp 259.77 0/1 33 19 4 15 0.79 ncRNA_intronic rs187246368 TRG-AS1 AU 0.0050 0.025 Uncertain 7_38397930_A->G 7 38397930 38397930 A G snp 499.77 1/1 39 19 0 19 1.0 ncRNA_intronic rs2392550 TRG-AS1 AU 0.376398 0.2738 0.2687 0.2613 Uncertain 7_38398487_A->T 7 38398487 38398487 A T snp 1091.77 0/1 99 206 147 59 0.29 ncRNA_intronic rs3956755 TRG-AS1 AU 0.164936 0.13 Uncertain 7_38398565_G->C 7 38398565 38398565 G C snp 2299.77 1/1 99 80 0 80 1.0 ncRNA_intronic rs2020451 TRG-AS1 AU 0.682708 0.5516 0.550042 0.6893 0.5076 Uncertain 7_38398610_C->G 7 38398610 38398610 C G snp 876.77 1/1 66 25 0 25 1.0 ncRNA_intronic rs1808313 TRG-AS1 AU 0.232428 0.2877 0.1825 0.2070 Uncertain 7_38402496_A->G 7 38402496 38402496 A G snp 7466.77 1/1 99 250 0 250 1.0 ncRNA_intronic rs2735118 TRG-AS1 AU 0.707268 0.5556 0.752002 0.7281 0.5349 Uncertain 7_38402517_C->T 7 38402517 38402517 C T snp 3158.77 0/1 99 250 134 116 0.46 ncRNA_intronic rs11770189 TRG-AS1 AU 0.183506 0.1498 0.241382 0.2439 0.1658 Uncertain 7_38402781_A->G 7 38402781 38402781 A G snp 3970.77 1/1 99 152 1 151 0.99 ncRNA_intronic rs2011898 TRG-AS1 AU 0.705272 0.5526 0.7266 0.5331 Uncertain 7_38431436_C->T 7 38431436 38431436 C T snp 353.77 0/1 99 24 8 16 0.67 exonic rs1058656 AMPH AU synonymous SNV NM_139316 exon18 c.G1665A p.T555T 0.178914 0.127 0.215900 0.2140 0.1317 0.0 P -1.000 T Likely benign 7_38431481_C->A 7 38431481 38431481 C A snp 662.77 1/1 48 25 0 25 1.0 exonic rs1058655 AMPH AU synonymous SNV NM_139316 exon18 c.G1620T p.P540P 0.132388 0.1736 0.162233 0.1998 0.1788 0.000 P Uncertain 7_38431646_-->T 7 38431646 38431646 - T indel 1007.73 1/1 69 23 0 23 1.0 intronic rs11431159 AMPH AU NM_139316 exon3 c.7200+28insT 0.1692 0.1812 Uncertain 7_38433726_T->G 7 38433726 38433726 T G snp 1618.77 0/1 99 172 98 74 0.43 exonic rs35024632 AMPH AU nonsynonymous SNV NM_139316 exon17 c.A1361C p.K454T 0.0700879 0.1825 0.052591 0.0697 0.1780 0.58 T 0.0 P -1.090 T 0.996 D 0.866 D Pathogenic 7_38460546_G->A 7 38460546 38460546 G A snp 954.77 1/1 69 31 0 31 1.0 intronic rs1019287 AMPH AU NM_139316 exon5 c.37602-1474G>A 0.760383 0.9494 Uncertain 7_38462155_TATCTATCTATCTATC->- 7 38462155 38462170 TATCTATCTATCTATC - indel 982.73 0/1 99 44 8 36 0.82 intronic rs201839612 AMPH AU NM_139316 exon5 c.37659+78_37659+93delTATCTATCTATCTATC 0.0766773 0.1935 Uncertain 7_38466659_A->G 7 38466659 38466659 A G snp 275.77 0/1 99 29 16 13 0.45 intronic rs78935089 AMPH AU NM_139316 exon6 c.42168+73A>G 0.0786741 0.1935 0.054314 Uncertain 7_38467842_A->G 7 38467842 38467842 A G snp 3528.77 0/1 99 250 111 139 0.56 intronic rs1544636 AMPH AU NM_139316 exon6 c.42168+1256A>G 0.771565 0.7877 0.8150 0.8131 Uncertain 7_38467923_A->G 7 38467923 38467923 A G snp 6647.77 1/1 99 245 1 244 1.0 intronic rs6958300 AMPH AU NM_139316 exon6 c.42168+1337A>G 1 1 1 1 Uncertain 7_38468463_C->T 7 38468463 38468463 C T snp 1746.77 0/1 99 154 82 72 0.47 intronic rs2267808 AMPH AU NM_139316 exon7 c.45023-978C>T 0.771565 0.7877 0.8162 0.8168 Uncertain 7_38468695_C->T 7 38468695 38468695 C T snp 6285.77 1/1 99 213 0 213 1.0 intronic rs2392572 AMPH AU NM_139316 exon7 c.45023-746C>T 0.899561 0.9802 0.9082 0.9623 0.48 T 0.994 P -1.027 T Uncertain 7_38469636_G->T 7 38469636 38469636 G T snp 76.77 0/1 99 7 3 4 0.57 intronic rs10253674 AMPH AU NM_139316 exon7 c.45047+171G>T 0.788139 0.7877 Uncertain 7_38471748_G->A 7 38471748 38471748 G A snp 1739.77 0/1 99 125 55 70 0.56 intronic rs41279579 AMPH AU NM_139316 exon8 c.47370-40G>A 0.159744 0.1032 0.249654 0.2437 0.1092 Uncertain 7_38500782_G->A 7 38500782 38500782 G A snp 200.77 0/1 94 12 4 8 0.67 intronic rs12670885 AMPH AU NM_139316 exon10 c.76464-100G>A 0.370807 0.5784 Uncertain 7_38504905_C->A 7 38504905 38504905 C A snp 43.77 0/1 72 5 3 2 0.4 intronic rs722336 AMPH AU NM_139316 exon12 c.80648-161C>A 0.448682 0.5813 Uncertain 7_38505014_A->C 7 38505014 38505014 A C snp 319.77 0/1 99 44 27 17 0.39 intronic rs722335 AMPH AU NM_139316 exon12 c.80648-52A>C 0.452276 0.5804 0.312527 Uncertain 7_38505025_G->A 7 38505025 38505025 G A snp 430.77 0/1 99 52 32 20 0.38 intronic rs722334 AMPH AU NM_139316 exon12 c.80648-41G>A 0.677316 0.6319 0.618067 0.6324 0.6476 Uncertain 7_38514868_G->A 7 38514868 38514868 G A snp 379.77 0/1 99 30 14 16 0.53 intronic rs41279585 AMPH AU NM_139316 exon14 c.90512-62G>A 0.0878594 0.1558 Uncertain 7_38530568_G->T 7 38530568 38530568 G T snp 1417.77 0/1 99 104 49 55 0.53 intronic rs2043786 AMPH AU NM_139316 exon16 c.106231-81G>T 0.678914 0.6319 Uncertain 7_38530807_-->A 7 38530807 38530807 - A indel 851.73 0/1 99 79 27 52 0.66 intronic rs3837078 AMPH AU NM_139316 exon16 c.106327+62insA 0.679313 0.6319 Uncertain 7_38533972_A->C 7 38533972 38533972 A C snp 669.77 0/1 99 35 11 24 0.69 intronic rs3735089 AMPH AU NM_139316 exon17 c.109614-60A>C 0.0882588 0.1567 Uncertain 7_38543102_GT->- 7 38543102 38543103 GT - indel 1900.73 1/1 99 71 4 67 0.94 intronic AMPH AU NM_139316 exon18 c.118831-147_118831-146delGT Uncertain 7_38543371_C->T 7 38543371 38543371 C T snp 2425.77 1/1 99 79 0 79 1.0 intronic rs6946268 AMPH AU NM_139316 exon18 c.118886+67C>T 0.977236 1 0.972624 Uncertain 7_38725804_C->T 7 38725804 38725804 C T snp 1982.77 0/1 99 178 96 82 0.46 ncRNA_exonic rs11980087 FAM183B AU 0.61222 0.5645 0.6299 0.5690 Uncertain 7_38725883_C->A 7 38725883 38725883 C A snp 2350.77 0/1 99 218 121 97 0.44 ncRNA_intronic rs12701651 FAM183B AU 0.360024 0.5437 0.4084 0.5714 Uncertain 7_38780883_C->T 7 38780883 38780883 C T snp 1199.77 1/1 84 48 0 48 1.0 intronic rs6951429 VPS41 AU NM_014396 exon5 c.15739-701C>T 0.891773 0.996 0.8699 0.9958 Uncertain 7_38780924_T->C 7 38780924 38780924 T C snp 789.77 1/1 57 28 0 28 1.0 intronic rs6975410 VPS41 AU NM_014396 exon5 c.15739-660T>C 0.891773 0.996 0.8768 0.9959 0.1 T 0.0 P -1.039 T Uncertain 7_38782897_A->G 7 38782897 38782897 A G snp 567.77 1/1 45 15 0 15 1.0 intronic rs10224856 VPS41 AU NM_014396 exon6 c.17156-104A>G 0.891773 0.996 Uncertain 7_38782905_C->T 7 38782905 38782905 C T snp 589.77 1/1 45 15 0 15 1.0 intronic rs10254354 VPS41 AU NM_014396 exon6 c.17156-96C>T 0.891773 0.996 Uncertain 7_38782951_G->A 7 38782951 38782951 G A snp 2118.77 1/1 99 72 0 72 1.0 intronic rs10254567 VPS41 AU NM_014396 exon6 c.17156-50G>A 0.557109 0.5565 0.665411 0.6687 0.5603 Uncertain 7_38796570_G->A 7 38796570 38796570 G A snp 2482.77 1/1 99 94 0 94 1.0 exonic rs2240350 VPS41 AU synonymous SNV NM_080631 exon18 c.C1488T p.D496D 0.358227 0.4206 0.335026 0.3819 0.4465 Uncertain 7_38796748_C->T 7 38796748 38796748 C T snp 496.77 1/1 39 14 0 14 1.0 intronic rs2392599 VPS41 AU NM_014396 exon11 c.30737+166C>T 0.891773 0.996 Uncertain 7_38810880_-->A 7 38810880 38810880 - A indel 265.7 1/1 6 29 2 27 0.93 intronic rs11431870 VPS41 AU NM_014396 exon16 c.45009+26insA 0.429313 0.4563 0.3961 0.4686 Uncertain 7_38813590_A->G 7 38813590 38813590 A G snp 180.9 1/1 15 5 0 5 1.0 intronic rs976352 VPS41 AU NM_014396 exon18 c.47869-124A>G 0.936901 0.996 Uncertain 7_38813597_G->C 7 38813597 38813597 G C snp 182.9 1/1 15 5 0 5 1.0 intronic rs976351 VPS41 AU NM_014396 exon18 c.47869-117G>C 0.992412 0.997 Uncertain 7_38813711_C->T 7 38813711 38813711 C T snp 2430.77 1/1 99 91 0 91 1.0 splicing rs976350 VPS41 AU NM_014396 exon18 c.47869-3C>T 0.992412 0.997 0.994541 0.9920 0.9946 Pathogenic 7_38816441_A->G 7 38816441 38816441 A G snp 3104.77 1/1 99 115 1 114 0.99 intronic rs1468347 VPS41 AU NM_014396 exon19 c.50531+65A>G 0.688498 0.8621 Uncertain 7_38816487_G->A 7 38816487 38816487 G A snp 1378.77 1/1 63 44 1 43 0.98 intronic rs4236355 VPS41 AU NM_014396 exon19 c.50531+111G>A 0.7502 0.8621 Uncertain 7_38857364_G->A 7 38857364 38857364 G A snp 3010.77 1/1 99 101 0 101 1.0 intronic rs2072248 VPS41 AU NM_014396 exon23 c.91571-52G>A 0.711661 0.871 0.578187 0.6196 0.8869 Uncertain 7_38869708_C->T 7 38869708 38869708 C T snp 1626.77 1/1 99 51 0 51 1.0 intronic rs7790054 VPS41 AU NM_014396 exon25 c.104008-145C>T 0.943291 0.999 Uncertain 7_39125413_T->G 7 39125413 39125413 T G snp 1352.77 1/1 99 47 0 47 1.0 intronic rs1950001 POU6F2 AD,AO NM_007252 exon3 c.79010-46T>G 0.877796 0.999 0.812827 0.8270 0.9995 Uncertain 7_39243750_A->G 7 39243750 39243750 A G snp 2048.77 1/1 99 72 0 72 1.0 intronic rs4507668 POU6F2 AD,AO NM_007252 exon4 c.197384-83A>G 0.891773 0.999 Uncertain 7_39379325_C->T 7 39379325 39379325 C T snp 1247.77 0/1 99 88 37 51 0.58 exonic rs2074936 POU6F2 AD,AO nonsynonymous SNV NM_007252 exon6 c.C596T p.P199L 0.270367 0.5833 0.152632 0.2335 0.6076 0.17 T 0.019 P -0.964 T 0.82 T 0.155 P Pathogenic 7_39472669_C->T 7 39472669 39472669 C T snp 1173.77 0/1 99 108 60 48 0.44 intronic rs2302125 POU6F2 AD,AO NM_007252 exon8 c.426226-6C>T 0.314297 0.5119 0.282946 0.2845 0.5143 Uncertain 7_39472681_C->T 7 39472681 39472681 C T snp 1320.77 0/1 99 127 68 59 0.46 exonic rs2302124 POU6F2 AD,AO synonymous SNV NM_007252 exon8 c.C1032T p.I344I 0.0930511 0.3135 0.010380 0.0492 0.3186 Uncertain 7_39472708_A->G 7 39472708 39472708 A G snp 1747.77 0/1 99 159 78 81 0.51 exonic rs2302123 POU6F2 AD,AO synonymous SNV NM_007252 exon8 c.A1059G p.P353P 0.40615 0.5833 0.346917 0.3157 0.5892 Uncertain 7_39472846_G->A 7 39472846 39472846 G A snp 1506.77 0/1 99 157 93 64 0.41 exonic rs2302122 POU6F2 AD,AO synonymous SNV NM_007252 exon8 c.G1197A p.Q399Q 0.321286 0.5188 0.285022 0.2870 0.5235 Uncertain 7_39490982_A->C 7 39490982 39490982 A C snp 83.77 0/1 63 5 2 3 0.6 intronic rs7801100 POU6F2 AD,AO NM_007252 exon9 c.444682-149A>C 0.392372 0.5843 Uncertain 7_39500352_C->G 7 39500352 39500352 C G snp 343.78 1/1 27 9 0 9 1.0 intronic rs885689 POU6F2 AD,AO NM_007252 exon10 c.453865+38C>G 0.926717 0.9931 0.905308 0.9267 0.9936 Uncertain 7_39649055_A->G 7 39649055 39649055 A G snp 355.77 0/1 99 30 17 13 0.43 intergenic rs4723883 YAE1D1 AU 0.260783 0.0982 Uncertain 7_39649275_G->A 7 39649275 39649275 G A snp 1498.77 0/1 99 146 80 66 0.45 intergenic rs4723884 YAE1D1 AU 0.258786 0.0982 0.1503 0.1288 0.05 T 0.0 P -0.928 T Uncertain 7_39649456_G->C 7 39649456 39649456 G C snp 1437.77 0/1 99 105 42 63 0.6 intergenic rs4723885 YAE1D1 AU 0.26278 0.0992 0.1564 0.1471 Uncertain 7_39649707_G->C 7 39649707 39649707 G C snp 44.74 1/1 6 2 0 2 1.0 intergenic rs6968742 YAE1D1 AU 0.259385 0.0982 Uncertain 7_39736826_C->T 7 39736826 39736826 C T snp 421.77 0/1 99 24 9 15 0.63 intronic rs3779202 RALA AU NM_005402 exon4 c.10192+368C>T 0.0497204 0.1409 Uncertain 7_40314243_A->G 7 40314243 40314243 A G snp 3952.77 1/1 99 134 0 134 1.0 exonic rs4637704 SUGCT AR synonymous SNV NM_024728 exon8 c.A618G p.L206L 0.342252 0.5 0.282142 0.3258 0.4902 1.000 P -0.921 T Likely benign 7_40356315_A->T 7 40356315 40356315 A T snp 2136.77 1/1 99 65 0 65 1.0 intronic rs10245165 SUGCT AR NM_001193312 exon8 c.181760-43A>T 0.523962 0.5446 0.586923 0.6116 0.5607 Uncertain 7_40899967_G->C 7 40899967 40899967 G C snp 6009.77 1/1 99 216 1 215 1.0 exonic rs2010706 SUGCT AR synonymous SNV NM_024728 exon15 c.G1194C p.P398P 0.299794 0.3887 0.8289 Uncertain 7_41729775_C->T 7 41729775 41729775 C T snp 3089.77 0/1 99 247 125 122 0.49 exonic INHBA AU nonsynonymous SNV NM_002192 exon3 c.G754A p.A252T 0.6 T 1 D -0.669 T 1.0 D 1.0 D ID=COSM1089613;OCCURENCE=1(endometrium) Pathogenic 7_42005678_G->A 7 42005678 42005678 G A snp 1419.77 0/1 99 92 39 53 0.58 exonic rs929387 GLI3 AU,AD nonsynonymous SNV NM_000168 exon15 c.C2993T p.P998L 0.421526 0.7688 0.256354 0.4558 0.8137 0.5 T 1.000 P -1.041 T 0.001 T 0.001 T ID=CM068412;DIS=Talipes equinovarus, congential idiopathic, association with;TAG=DFP;PUB=17029207 DFP Pathogenic 7_42007071_C->T 7 42007071 42007071 C T snp 200.77 0/1 99 14 5 9 0.64 intronic rs4724083 GLI3 AU,AD NM_000168 exon2 c.3266-122C>T 0.504393 0.7688 Uncertain 7_42064852_C->G 7 42064852 42064852 C G snp 2864.77 1/1 99 100 0 100 1.0 intronic rs846273 GLI3 AU,AD NM_000168 exon7 c.60935-10C>G 0.963458 0.9891 0.967784 0.9735 0.9831 Uncertain 7_42187735_CA->- 7 42187735 42187736 CA - indel 112.73 0/1 99 15 10 5 0.33 intronic rs376925026 GLI3 AU,AD NM_000168 exon13 c.183897-89_183897-88delCA Uncertain 7_42262935_-->A 7 42262935 42262935 - A indel 44.75 0/1 23 20 5 15 0.75 intronic rs199612920 GLI3 AU,AD NM_000168 exon14 c.258967+41insA 0.320487 0.5288 Uncertain 7_42950640_C->T 7 42950640 42950640 C T snp 3306.77 1/1 99 110 0 110 1.0 intronic rs643138 C7orf25 AU NM_001099858 exon1 c.1287+120C>T 0.999002 1 0.9998 1 1 T 0.394 P -0.947 T Uncertain 7_42951515_G->A 7 42951515 42951515 G A snp 783.77 1/1 57 26 0 26 1.0 exonic rs647117 C7orf25 AU nonsynonymous SNV NM_001099858 exon1 c.C152T p.P51L 0.630391 0.8115 0.7900 0.8906 0.14 T 1.000 P -1.044 T Pathogenic 7_42951810_G->A 7 42951810 42951810 G A snp 208.84 1/1 18 6 0 6 1.0 upstream rs658884 C7orf25 AU 0.852835 0.9097 Uncertain 7_42970733_C->T 7 42970733 42970733 C T snp 3175.77 1/1 99 117 0 117 1.0 intronic rs619664 PSMA2 AU NM_002787 exon8 c.14544-983C>T 0.983227 1 0.9976 1 Uncertain 7_42974827_A->C 7 42974827 42974827 A C snp 1568.77 1/1 99 49 0 49 1.0 intronic rs601057 MRPL32 AU NM_031903 exon2 c.2750+92A>C 0.860823 0.9315 Uncertain 7_42976789_A->G 7 42976789 42976789 A G snp 6587.77 1/1 99 250 0 250 1.0 intronic rs630191 MRPL32 AU NM_031903 exon3 c.4935-131A>G 0.85004 0.9107 0.8801 0.9023 Uncertain 7_42977091_G->A 7 42977091 42977091 G A snp 2544.77 1/1 99 82 0 82 1.0 exonic rs631132 MRPL32 AU synonymous SNV NM_031903 exon3 c.G483A p.T161T 0.850839 0.9107 0.839536 0.8686 0.9027 Uncertain 7_42977195_G->A 7 42977195 42977195 G A snp 84.28 1/1 9 3 0 3 1.0 UTR3 rs631561 MRPL32 AU 0.983227 1 0.983618 0.9953 1 Uncertain 7_43190479_T->G 7 43190479 43190479 T G snp 1567.77 1/1 99 67 0 67 1.0 intronic rs12702015 HECW1 AU 0.455072 0.4544 0.4546 0.3889 Uncertain 7_43485248_A->G 7 43485248 43485248 A G snp 666.77 0/1 99 52 28 24 0.46 intronic rs6960889 HECW1 AU NM_001287059 exon10 c.201665+79A>G 0.820887 0.871 Uncertain 7_43495878_-->T 7 43495878 43495878 - T indel 658.73 0/1 99 53 29 24 0.45 intronic rs3214631 HECW1 AU NM_001287059 exon11 c.212391-17insT 0.547524 0.4107 0.574084 0.6154 0.3894 Uncertain 7_43506015_C->A 7 43506015 43506015 C A snp 922.77 0/1 99 108 65 43 0.4 intronic rs2304330 HECW1 AU NM_001287059 exon13 c.222541-30C>A 0.443291 0.3492 0.422401 0.4136 0.3393 Uncertain 7_43506059_A->G 7 43506059 43506059 A G snp 1031.77 0/1 99 117 70 47 0.4 exonic rs2304329 HECW1 AU synonymous SNV NM_001287059 exon13 c.A2703G p.E901E 0.555312 0.3879 0.596695 0.6098 0.3751 Uncertain 7_43506158_T->C 7 43506158 43506158 T C snp 499.77 0/1 99 43 24 19 0.44 exonic rs2304328 HECW1 AU synonymous SNV NM_001287059 exon13 c.T2802C p.H934H 0.447883 0.3492 0.429209 0.4145 0.3433 Uncertain 7_43540264_A->G 7 43540264 43540264 A G snp 1857.77 0/1 99 183 102 81 0.44 intronic rs2304325 HECW1 AU NM_001287059 exon18 c.256793-33A>G 0.265974 0.2183 0.250042 0.2777 0.2224 Uncertain 7_43547466_C->T 7 43547466 43547466 C T snp 483.77 0/1 99 29 9 20 0.69 intronic HECW1 AU NM_001287059 exon21 c.264112-150C>T Uncertain 7_43548857_T->C 7 43548857 43548857 T C snp 716.77 0/1 99 39 15 24 0.62 ncRNA_exonic rs9639877 LOC100506895 AU 0.183506 0.0863 Uncertain 7_43591955_A->G 7 43591955 43591955 A G snp 596.77 0/1 99 53 27 26 0.49 intronic rs4724220 HECW1 AU NM_001287059 exon26 c.308431+20A>G 0.45028 0.4514 0.490778 0.5079 0.4713 Uncertain 7_43594471_C->T 7 43594471 43594471 C T snp 625.77 0/1 99 46 23 23 0.5 intronic rs9638972 HECW1 AU NM_001287059 exon27 c.310885+82C>T 0.134784 0.1498 Uncertain 7_43594560_C->T 7 43594560 43594560 C T snp 43.77 0/1 72 4 2 2 0.5 intronic rs2304319 HECW1 AU NM_001287059 exon27 c.310885+171C>T 0.452875 0.4514 Uncertain 7_43659182_G->A 7 43659182 43659182 G A snp 1576.77 0/1 99 134 66 68 0.51 intronic rs6950861 STK17A AU NM_004760 exon4 c.36353-13G>A 0.197484 0.3254 0.201907 0.2055 0.3091 Uncertain 7_43664280_A->G 7 43664280 43664280 A G snp 1860.77 0/1 99 149 76 73 0.49 exonic rs1044141 STK17A AU nonsynonymous SNV NM_004760 exon7 c.A1084G p.K362E 0.820887 0.6746 0.821236 0.8014 0.6913 1 T 0.002 P -0.940 T 0.0 T 0.0 T Pathogenic 7_43664477_T->C 7 43664477 43664477 T C snp 226.77 0/1 99 23 13 10 0.43 UTR3 rs15866 STK17A AU 0.6252 0.5675 0.559932 0.5194 0.5909 Uncertain 7_43684803_C->G 7 43684803 43684803 C G snp 197.77 0/1 99 17 9 8 0.47 intronic rs2302031 COA1 AU NM_018224 exon3 c.5669-46C>G 0.709665 0.6607 0.644164 0.6425 0.6850 Uncertain 7_43685186_C->T 7 43685186 43685186 C T snp 80.77 0/1 30 4 1 3 0.75 intronic rs6957618 COA1 AU NM_018224 exon3 c.5818+188C>T 0.709665 0.6607 Uncertain 7_43687296_C->T 7 43687296 43687296 C T snp 340.77 0/1 99 31 17 14 0.45 intronic rs2240516 COA1 AU NM_018224 exon4 c.8053+63C>T 0.562101 0.3948 Uncertain 7_43810695_A->G 7 43810695 43810695 A G snp 1229.77 0/1 99 102 55 47 0.46 intronic rs699511 BLVRA AR,AD 0.67512 0.5079 0.694481 Uncertain 7_43810764_G->A 7 43810764 43810764 G A snp 2714.77 0/1 99 230 117 113 0.49 exonic rs699512 BLVRA AR,AD nonsynonymous SNV NM_000712 exon2 c.G7A p.A3T 0.821086 0.6825 0.820006 0.8011 0.6939 1 T 0.0 P -0.956 T 0.0 T 0.0 T ID=CM1111303;DIS=Essential hypertension, reduced risk, association with;TAG=DP;PUB=21721974 DP Pathogenic 7_43827414_G->A 7 43827414 43827414 G A snp 765.77 0/1 99 87 53 34 0.39 intronic rs849165 BLVRA AR,AD NM_000712 exon3 c.16745-88G>A 0.570687 0.4871 Uncertain 7_43846603_A->G 7 43846603 43846603 A G snp 468.77 0/1 99 51 28 23 0.45 exonic rs7738 BLVRA AR,AD synonymous SNV NM_000712 exon8 c.A660G p.G220G 0.47504 0.4048 0.429263 0.4199 0.4195 Uncertain 7_43908856_C->G 7 43908856 43908856 C G snp 206.8 0/1 21 9 1 8 0.89 intronic rs564112142 MRPS24 AU NM_032014 exon3 c.2609-50C>G 0.000199681 0.001 0.0002 0 Uncertain 7_43908866_C->T 7 43908866 43908866 C T snp 199.77 0/1 54 13 2 11 0.85 intronic rs2730608 MRPS24 AU NM_032014 exon3 c.2609-40C>T 0.6376 0.6698 Uncertain 7_43916138_C->G 7 43916138 43916138 C G snp 120.77 0/1 60 6 2 4 0.67 UTR3 rs1468405 URGCP AU 0.745208 0.7282 Uncertain 7_43916727_T->G 7 43916727 43916727 T G snp 3636.77 0/1 99 250 111 139 0.56 exonic rs2232108 URGCP AU nonsynonymous SNV NM_017920 exon5 c.A2308C p.M770L 0.510982 0.5764 0.442706 0.5157 0.5656 0.03 T 0.006 P -0.947 T 0.001 T 0.001 T Pathogenic 7_43917013_G->A 7 43917013 43917013 G A snp 3078.77 0/1 99 245 131 114 0.47 exonic rs2232105 URGCP AU synonymous SNV NM_017920 exon5 c.C2022T p.H674H 0.492412 0.5764 0.420589 0.5111 0.5649 Uncertain 7_43917274_A->G 7 43917274 43917274 A G snp 2588.77 0/1 99 247 135 112 0.45 exonic rs2232103 URGCP AU synonymous SNV NM_017920 exon5 c.T1761C p.H587H 0.744609 0.7282 0.723310 0.7098 0.7245 Uncertain 7_43978279_A->C 7 43978279 43978279 A C snp 42.77 0/1 33 3 1 2 0.67 intronic rs41279600 UBE2D4 AU NM_015983 exon2 c.11962+186A>C 0.403754 0.504 Uncertain 7_43982341_G->C 7 43982341 43982341 G C snp 755.77 0/1 99 54 24 30 0.56 ncRNA_exonic rs2074728 POLR2J4 AU 0.327476 0.4633 0.305081 Uncertain 7_43982482_A->C 7 43982482 43982482 A C snp 2052.77 0/1 99 136 60 76 0.56 ncRNA_exonic rs2074727 POLR2J4 AU 0.454872 0.501 0.376288 0.3993 0.5023 Uncertain 7_44027348_A->G 7 44027348 44027348 A G snp 1327.77 0/1 99 111 55 56 0.5 ncRNA_exonic rs2330943 POLR2J4 AU 0.670128 0.6111 0.6806 0.6576 Uncertain 7_44084292_C->G 7 44084292 44084292 C G snp 1660.77 1/1 79 68 2 66 0.97 UTR5 rs4430012 DBNL AU 0.448682 0.6905 0.5616 0.7247 Uncertain 7_44097696_T->C 7 44097696 44097696 T C snp 744.77 1/1 54 30 0 30 1.0 intronic rs6968228 DBNL AU NM_001284313 exon5 c.5205-31T>C 0.689896 0.8046 0.611882 0.6996 0.8114 Uncertain 7_44147567_-->G 7 44147567 44147567 - G indel 2768.73 1/1 99 73 0 73 1.0 intronic rs58863562 AEBP1 AU NM_001129 exon5 c.3266+37insG 1 1 0.999676 0.9990 1 Uncertain 7_44148388_C->T 7 44148388 44148388 C T snp 40.77 0/1 69 6 4 2 0.33 intronic rs2075071 AEBP1 AU NM_001129 exon7 c.4233-109C>T 0.315695 0.2768 Uncertain 7_44148553_A->G 7 44148553 44148553 A G snp 1378.77 0/1 99 144 83 61 0.42 exonic rs2595701 AEBP1 AU synonymous SNV NM_001129 exon7 c.A996G p.T332T 0.788738 0.8522 0.741640 0.7304 0.8591 1.000 P -1.028 T Likely benign 7_44152119_-->G 7 44152119 44152119 - G indel 1277.73 1/1 93 31 0 31 1.0 intronic rs11377645 AEBP1 AU NM_001129 exon18 c.7892-37insG 0.999920 0.9999 1 Uncertain 7_44153082_-->C 7 44153082 44153082 - C indel 1479.73 1/1 99 40 0 40 1.0 intronic rs67670401 AEBP1 AU NM_001129 exon21 c.8928-110insC Uncertain 7_44153115_-->C 7 44153115 44153115 - C indel 506.73 1/1 39 13 0 13 1.0 intronic rs34515254 AEBP1 AU NM_001129 exon21 c.8928-77insC 0.999601 1 Uncertain 7_44154865_-->G 7 44154865 44154865 - G indel 4048.73 1/1 99 98 0 98 1.0 intronic rs397753933 POLD2 AU NM_006230 exon2 c.510-28insG 1 1 1.0000 1 Uncertain 7_44157770_-->C 7 44157770 44157770 - C indel 530.73 1/1 42 17 0 17 1.0 intronic rs34484835 POLD2 AU NM_006230 exon9 c.3280+107insC 0.999401 0.997 Uncertain 7_44180079_-->G 7 44180079 44180079 - G indel 3815.73 1/1 99 103 0 103 1.0 intronic rs398004624 MYL7 AU NM_021223 exon4 c.1507+53insG 1 1 1.0000 0.9999 Uncertain 7_44186328_C->T 7 44186328 44186328 C T snp 421.77 0/1 99 27 13 14 0.52 intronic rs117651210 GCK AD NM_033508 exon3 c.1483+111C>T 0.00778754 0.0347 Uncertain 7_44243953_C->T 7 44243953 44243953 C T snp 224.84 1/1 18 6 0 6 1.0 intronic rs1476892 YKT6 AU NM_006555 exon2 c.3432-213C>T 0.784345 0.8383 Uncertain 7_44245853_A->T 7 44245853 44245853 A T snp 364.77 0/1 99 35 19 16 0.46 intronic rs917793 YKT6 AU NM_006555 exon3 c.5249-130A>T 0.21865 0.1875 Uncertain 7_44247258_C->T 7 44247258 44247258 C T snp 174.77 0/1 99 20 14 6 0.3 intronic rs3824065 YKT6 AU NM_006555 exon4 c.6357+167C>T 0.344649 0.4077 Uncertain 7_44250280_CA->- 7 44250280 44250281 CA - indel 314.73 0/1 99 15 5 10 0.67 intronic rs3837149 YKT6 AU NM_006555 exon6 c.9887-341_9887-340delCA 0.529553 0.5595 Uncertain 7_44250826_G->A 7 44250826 44250826 G A snp 790.77 1/1 57 29 0 29 1.0 intronic rs2072439 YKT6 AU NM_006555 exon6 c.9989+103G>A 0.8123 0.8264 Uncertain 7_44259554_-->G 7 44259554 44259554 - G indel 369.74 1/1 30 10 0 10 1.0 intronic rs149624128 CAMK2B AU 1 1 Uncertain 7_44259561_-->C 7 44259561 44259561 - C indel 514.73 1/1 39 13 0 13 1.0 intronic rs138799733 CAMK2B AU 0.9998 1 Uncertain 7_44259706_G->A 7 44259706 44259706 G A snp 1419.77 0/1 99 121 63 58 0.48 exonic rs1065359 CAMK2B AU synonymous SNV NM_001220 exon23 c.C1956T p.N652N 0.339058 0.3879 0.350823 0.4449 0.3943 Uncertain 7_44259871_C->T 7 44259871 44259871 C T snp 1564.77 0/1 99 181 109 72 0.4 exonic rs1127065 CAMK2B AU synonymous SNV NM_001220 exon23 c.G1791A p.P597P 0.341653 0.3998 0.359603 0.4064 0.3596 Uncertain 7_44268785_A->G 7 44268785 44268785 A G snp 898.77 0/1 99 50 17 33 0.66 intronic rs917791 CAMK2B AU NM_001220 exon7 c.9326-201A>G 0.309305 0.1627 0.4182 0.2736 Uncertain 7_44272304_G->C 7 44272304 44272304 G C snp 111.77 0/1 99 9 5 4 0.44 intronic CAMK2B AU NM_001220 exon9 c.12760-116G>C Uncertain 7_44272314_-->C 7 44272314 44272314 - C indel 429.73 1/1 33 11 0 11 1.0 intronic rs397726574 CAMK2B AU NM_001220 exon9 c.12760-106insC 1 1 Uncertain 7_44280562_C->G 7 44280562 44280562 C G snp 164.77 0/1 60 10 3 7 0.7 intronic rs73095923 CAMK2B AU NM_001220 exon13 c.20688+214C>G 0.067492 0.1032 Uncertain 7_44281223_C->T 7 44281223 44281223 C T snp 1894.77 0/1 99 124 51 73 0.59 intronic rs73691438 CAMK2B AU NM_001220 exon14 c.21638-75C>T 0.00119808 0.006 Uncertain 7_44281475_T->A 7 44281475 44281475 T A snp 1569.77 0/1 99 103 49 54 0.52 intronic rs2075073 CAMK2B AU NM_001220 exon14 c.21722+93T>A 0.291733 0.2202 Uncertain 7_44281702_A->G 7 44281702 44281702 A G snp 147.77 0/1 99 13 8 5 0.38 intronic rs35663812 CAMK2B AU NM_001220 exon15 c.22156-114A>G 0.291733 0.2202 Uncertain 7_44282369_T->C 7 44282369 44282369 T C snp 794.77 0/1 99 66 35 31 0.47 intronic rs35452037 CAMK2B AU NM_001220 exon16 c.22593+116T>C 0.278355 0.2212 Uncertain 7_44282868_A->G 7 44282868 44282868 A G snp 829.77 0/1 99 73 36 37 0.51 exonic rs11542228 CAMK2B AU synonymous SNV NM_001220 exon8 c.T582C p.P194P 0.335663 0.2222 0.399047 0.3966 0.2628 Uncertain 7_44284564_A->G 7 44284564 44284564 A G snp 1942.77 0/1 99 170 86 84 0.49 intronic rs2075069 CAMK2B AU NM_001220 exon18 c.23466+1438A>G 0.385982 0.3938 0.4818 0.395 Uncertain 7_44294380_C->T 7 44294380 44294380 C T snp 337.78 1/1 27 10 0 10 1.0 intronic rs73096000 CAMK2B AU NM_001220 exon20 c.34546+174C>T Uncertain 7_44323639_G->A 7 44323639 44323639 G A snp 66.77 0/1 95 10 7 3 0.3 intronic rs372995743 CAMK2B AU NM_001220 exon23 c.64069-90G>A 0.000399361 0.001 Uncertain 7_44442296_A->C 7 44442296 44442296 A C snp 2415.77 1/1 99 93 0 93 1.0 intronic rs1473114 NUDCD3 AU NM_015332 exon3 c.18429-1742A>C 0.840455 0.9335 0.7554 0.9495 Uncertain 7_44444379_-->G 7 44444379 44444379 - G indel 343.74 1/1 27 11 0 11 1.0 intronic rs397749706 NUDCD3 AU NM_015332 exon3 c.18573+197insG 1 1 Uncertain 7_44560557_T->C 7 44560557 44560557 T C snp 992.77 0/1 99 77 39 38 0.49 intronic rs759973294 NPC1L1 AU NM_013389 exon8 c.7545-33T>C 4.119e-05 0.0005 Uncertain 7_44561884_C->T 7 44561884 44561884 C T snp 1440.77 0/1 99 118 60 58 0.49 intronic rs4720470 NPC1L1 AU NM_013389 exon10 c.8796+43C>T 0.122204 0.3244 0.046063 0.0992 0.3503 Uncertain 7_44571460_T->G 7 44571460 44571460 T G snp 2509.77 0/1 99 241 129 112 0.46 intronic rs2301935 NPC1L1 AU NM_013389 exon11 c.18398+17T>G 0.116414 0.4494 0.002005 0.1034 0.5767 Uncertain 7_44579180_G->C 7 44579180 44579180 G C snp 2619.77 0/1 99 227 111 116 0.51 exonic rs2072183 NPC1L1 AU synonymous SNV NM_013389 exon2 c.C816G p.L272L 0.247204 0.374 0.222897 0.2477 0.3650 Uncertain 7_44579719_C->T 7 44579719 44579719 C T snp 2052.77 0/1 99 159 77 82 0.52 exonic rs752229761 NPC1L1 AU nonsynonymous SNV NM_013389 exon2 c.G277A p.A93T 8.254e-06 0 0.57 T 1 N -0.598 T 0.021 T 0.002 T Pathogenic 7_44606098_C->T 7 44606098 44606098 C T snp 4095.77 1/1 99 151 0 151 1.0 exonic rs6656 DDX56 AU synonymous SNV NM_001257189 exon12 c.G1395A p.V465V 0.75619 0.8393 0.681972 0.6639 0.7998 Uncertain 7_44606184_C->T 7 44606184 44606184 C T snp 492.77 0/1 99 43 24 19 0.44 intronic rs2304372 DDX56 AU NM_001257189 exon2 c.523+61C>T 0.202077 0.4435 0.056505 Uncertain 7_44608718_C->T 7 44608718 44608718 C T snp 1731.77 0/1 99 135 63 72 0.53 intronic rs2289051 DDX56 AU NM_001257189 exon5 c.3128-10C>T 0.200679 0.4474 0.060818 0.1042 0.4453 Uncertain 7_44609752_C->T 7 44609752 44609752 C T snp 930.77 0/1 99 65 27 38 0.58 intronic rs2304373 DDX56 AU NM_001257189 exon7 c.4127+25C>T 0.117212 0.25 0.040443 0.0839 0.2602 Uncertain 7_44611009_C->T 7 44611009 44611009 C T snp 389.77 0/1 99 51 30 21 0.41 intronic rs3793250 DDX56 AU NM_001257189 exon8 c.5490-81C>T 0.135783 0.25 Uncertain 7_44612229_G->A 7 44612229 44612229 G A snp 711.77 0/1 99 65 38 27 0.42 exonic rs2289057 DDX56 AU synonymous SNV NM_001257189 exon4 c.C498T p.D166D 0.135982 0.25 0.057127 0.0843 0.2487 Uncertain 7_44612347_G->C 7 44612347 44612347 G C snp 5523.77 1/1 99 212 0 212 1.0 splicing rs217374 DDX56 AU NM_001257189 exon10 c.6743+4G>C 0.766973 0.8393 0.701369 0.6595 0.8417 Pathogenic 7_44612753_T->C 7 44612753 44612753 T C snp 376.77 0/1 99 31 16 15 0.48 intronic rs217372 DDX56 AU NM_001257189 exon11 c.7049+104T>C 0.520567 0.3839 Uncertain 7_44613612_G->- 7 44613612 44613612 G - indel 6442.73 1/1 99 159 0 159 1.0 UTR5 rs11308115 DDX56 AU 0.761581 0.8393 Uncertain 7_44619302_T->C 7 44619302 44619302 T C snp 4083.77 1/1 99 144 0 144 1.0 intronic rs217361 TMED4 AU NM_182547 exon1 c.150+75T>C 0.761581 0.8393 Uncertain 7_44620836_C->A 7 44620836 44620836 C A snp 1583.77 1/1 99 56 0 56 1.0 exonic rs8580 TMED4 AU synonymous SNV NM_001303060 exon3 c.G213T p.R71R 0.766573 0.8393 0.701369 0.6593 0.8410 Uncertain 7_44620855_A->G 7 44620855 44620855 A G snp 750.77 0/1 99 49 21 28 0.57 intronic rs3750098 TMED4 AU NM_182547 exon2 c.1761+17A>G 0.21845 0.4474 0.079963 0.1113 0.4453 Uncertain 7_44695725_T->C 7 44695725 44695725 T C snp 437.77 0/1 99 28 14 14 0.5 intronic rs2268314 OGDH AR NM_002541 exon4 c.23416+8367T>C 0.326677 0.4484 Uncertain 7_44713264_A->G 7 44713264 44713264 A G snp 281.77 0/1 99 18 9 9 0.5 intronic rs3735474 OGDH AR NM_001165036 exon6 c.49443-121A>G 0.329673 0.4573 Uncertain 7_44714695_G->- 7 44714695 44714695 G - indel 120.84 0/1 16 6 1 5 0.83 intronic rs3832521 OGDH AR NM_001165036 exon8 c.50834-81delG 0.300519 0.4603 Uncertain 7_44734323_C->G 7 44734323 44734323 C G snp 194.77 0/1 99 12 5 7 0.58 intronic rs11976239 OGDH AR NM_001165036 exon12 c.70233+148C>G 0.263978 0.379 Uncertain 7_44737679_A->G 7 44737679 44737679 A G snp 290.77 0/1 99 29 14 15 0.52 intronic rs17133935 OGDH AR NM_001165036 exon18 c.73848-111A>G 0.300919 0.4494 Uncertain 7_44737716_-->AAG 7 44737716 44737716 - AAG indel 1584.73 0/1 99 54 26 28 0.52 intronic rs3216978 OGDH AR NM_001165036 exon18 c.73848-74insAAG 0.337859 0.4494 Uncertain 7_44737922_G->A 7 44737922 44737922 G A snp 185.77 0/1 99 32 23 9 0.28 intronic rs3213662 OGDH AR NM_001165036 exon18 c.73920+60G>A 0.331869 0.4494 0.205650 Uncertain 7_44747499_G->A 7 44747499 44747499 G A snp 1099.77 0/1 99 120 76 44 0.37 exonic rs2070606 OGDH AR synonymous SNV NM_001165036 exon23 c.G2961A p.A987A 0.235024 0.3641 0.129325 0.1069 0.3780 Uncertain 7_44802401_A->C 7 44802401 44802401 A C snp 461.77 1/1 36 13 0 13 1.0 intronic rs4720479 ZMIZ2 AU NM_174929 exon10 c.6631-78A>C 0.98742 1 Uncertain 7_44836314_A->G 7 44836314 44836314 A G snp 523.77 1/1 39 17 0 17 1.0 UTR5 rs6850 PPIA AU 0.421126 0.7242 0.229734 0.2572 0.7436 ID=CR058043;DIS=AIDS, progression, association with;TAG=DFP;PUB=16188970 DFP Uncertain 7_44839997_C->T 7 44839997 44839997 C T snp 220.84 1/1 18 7 0 7 1.0 intronic rs75289788 PPIA AU NM_001300981 exon5 c.403+524C>T 0.426917 0.7222 Uncertain 7_44861383_-->C 7 44861383 44861383 - C indel 206.8 1/1 18 6 0 6 1.0 intergenic rs397783850 PPIA AU 0.990016 1 Uncertain 7_45004063_T->C 7 45004063 45004063 T C snp 2811.77 1/1 99 101 0 101 1.0 exonic rs7792760 MYO1G AU nonsynonymous SNV NM_033054 exon19 c.A2582G p.Q861R 0.901558 0.8938 0.883054 0.8687 0.9132 0.73 T 0.0 P -0.981 T 0.0 T 0.001 T Pathogenic 7_45008963_C->T 7 45008963 45008963 C T snp 2219.77 1/1 99 80 0 80 1.0 intronic rs3735483 MYO1G AU NM_033054 exon11 c.6674-48C>T 0.103435 0.3552 0.005767 0.0534 0.3851 Uncertain 7_45009325_G->A 7 45009325 45009325 G A snp 1070.77 1/1 78 33 0 33 1.0 exonic rs3735484 MYO1G AU synonymous SNV NM_033054 exon11 c.C1482T p.H494H 0.417732 0.6081 0.382403 0.4079 0.6154 Uncertain 7_45009341_A->G 7 45009341 45009341 A G snp 1201.77 1/1 90 38 0 38 1.0 exonic rs3735485 MYO1G AU nonsynonymous SNV NM_033054 exon11 c.T1466C p.M489T 0.900559 0.8938 0.882344 0.8687 0.9147 0.34 T 0.0 P -0.991 T 0.0 T 0.0 T Pathogenic 7_45009723_G->A 7 45009723 45009723 G A snp 1619.77 1/1 99 61 0 61 1.0 exonic rs11555636 MYO1G AU synonymous SNV NM_033054 exon10 c.C1248T p.N416N 0.583666 0.7619 0.547824 0.5891 0.7757 Uncertain 7_45010734_G->A 7 45010734 45010734 G A snp 951.77 1/1 69 37 0 37 1.0 intronic rs7789375 MYO1G AU NM_033054 exon15 c.8321+76G>A 0.586462 0.7629 Uncertain 7_45015238_C->T 7 45015238 45015238 C T snp 2340.77 0/1 99 235 129 106 0.45 exonic rs201682799 MYO1G AU nonsynonymous SNV NM_033054 exon4 c.G409A p.V137M 0.000399361 0.002 0.0001 0.0019 0.6 T 0.998 D -0.558 T 0.8 T 0.284 P Pathogenic 7_45112902_T->C 7 45112902 45112902 T C snp 137.03 1/1 12 5 0 5 1.0 intronic rs10272243 CCM2 AD NM_001167935 exon6 c.73126-156T>C 1 1 Uncertain 7_45197379_G->A 7 45197379 45197379 G A snp 256.77 0/1 99 32 20 12 0.38 UTR5 rs190315605 RAMP3 AU 0.00299521 0.0139 0.0015 0.0333 Uncertain 7_45217015_T->C 7 45217015 45217015 T C snp 1795.77 0/1 99 133 65 68 0.51 exonic rs2074654 RAMP3 AU nonsynonymous SNV NM_005856 exon2 c.T166C p.W56R 0.0640974 0.1071 0.048439 0.0637 0.0997 0.02 T 0.977 P -0.822 T 1.0 D 1.0 D Pathogenic 7_45223018_C->G 7 45223018 45223018 C G snp 2506.77 0/1 99 185 88 97 0.52 UTR3 rs11982639 RAMP3 AU 0.273363 0.12 0.290020 0.2377 0.1082 Uncertain 7_45225610_GTGTATGT->- 7 45225610 45225617 GTGTATGT - indel 1056.73 0/1 99 28 16 12 0.43 intergenic rs59976629 RAMP3 AU 0.34385 0.1181 Uncertain 7_45225708_A->G 7 45225708 45225708 A G snp 1129.77 0/1 99 95 49 46 0.48 intergenic rs13222185 RAMP3 AU 0.340855 0.1161 Uncertain 7_45225838_A->T 7 45225838 45225838 A T snp 1117.77 0/1 99 126 73 53 0.42 intergenic rs11767359 RAMP3 AU 0.0828674 0.1012 0.0811 0.1075 Uncertain 7_45225839_A->C 7 45225839 45225839 A C snp 1128.77 0/1 99 126 72 54 0.43 intergenic rs11767360 RAMP3 AU 0.158347 0.1022 0.1422 0.1075 Uncertain 7_45225854_A->G 7 45225854 45225854 A G snp 1151.77 0/1 99 117 67 50 0.43 intergenic rs11767365 RAMP3 AU 0.158746 0.1022 0.1323 0.1071 Uncertain 7_45225956_A->G 7 45225956 45225956 A G snp 112.77 0/1 99 26 19 7 0.27 intergenic rs71548262 RAMP3 AU 0.0826677 0.1012 Uncertain 7_45632178_G->A 7 45632178 45632178 G A snp 143.77 0/1 55 7 2 5 0.71 intronic rs58987934 ADCY1 AR NM_021116 exon2 c.18215-179G>A 0.0319489 0.123 Uncertain 7_45632292_G->A 7 45632292 45632292 G A snp 1990.77 0/1 99 173 89 84 0.49 intronic rs17172592 ADCY1 AR NM_021116 exon2 c.18215-65G>A 0.0323482 0.125 Uncertain 7_45688233_G->A 7 45688233 45688233 G A snp 2549.77 1/1 99 80 0 80 1.0 intronic rs3735672 ADCY1 AR NM_021116 exon5 c.74126-35G>A 0.111022 0.1558 0.072582 0.0681 0.1702 Uncertain 7_45697295_C->G 7 45697295 45697295 C G snp 1219.77 1/1 90 45 0 45 1.0 intronic rs2461131 ADCY1 AR NM_021116 exon6 c.83183-30C>G 0.702276 0.7222 0.442873 0.7852 0.7248 Uncertain 7_45697297_T->C 7 45697297 45697297 T C snp 1376.77 1/1 99 48 0 48 1.0 intronic rs2471231 ADCY1 AR NM_021116 exon6 c.83183-28T>C 0.870407 0.9177 0.721821 0.8725 0.9216 Uncertain 7_45726452_G->C 7 45726452 45726452 G C snp 93.28 1/1 9 4 0 4 1.0 intronic rs2461122 ADCY1 AR NM_021116 exon14 c.112130+180G>C 0.653954 0.7837 Uncertain 7_45743403_G->A 7 45743403 45743403 G A snp 2852.77 1/1 99 92 0 92 1.0 intronic rs2461114 ADCY1 AR NM_021116 exon16 c.129203+58G>A 0.980032 1 Uncertain 7_45930373_C->T 7 45930373 45930373 C T snp 51.77 0/1 80 16 12 4 0.25 intronic rs766534730 IGFBP1 AU NM_000596 exon2 c.2065+57C>T Uncertain 7_45932669_A->G 7 45932669 45932669 A G snp 342.77 0/1 99 38 20 18 0.47 exonic rs4619 IGFBP1 AU nonsynonymous SNV NM_000596 exon4 c.A759G p.I253M 0.375998 0.5268 0.387437 0.3557 0.5384 0.04 T 0.0 P -0.939 T 0.003 T 0.005 T ID=CM055287;DIS=Renal function in diabetes, association with;TAG=DP;PUB=16306374 DP Pathogenic 7_45954692_T->C 7 45954692 45954692 T C snp 784.77 1/1 60 20 0 20 1.0 intronic rs10255707 IGFBP3 AU NM_000598 exon2 c.126+148T>C 0.820288 0.8423 Uncertain 7_45960645_G->C 7 45960645 45960645 G C snp 1529.77 1/1 99 51 0 51 1.0 exonic rs2854746 IGFBP3 AU nonsynonymous SNV NM_001013398 exon1 c.C95G p.A32G 0.42512 0.7589 0.4761 0.7766 0.44 T 0.0 P -0.970 T 0.006 T 0.008 T ID=CM057457;DIS=Colorectal cancer, association with;TAG=DP;PUB=15894694 DP Pathogenic 7_46732428_A->G 7 46732428 46732428 A G snp 4282.77 1/1 99 152 0 152 1.0 intergenic rs700747 IGFBP3 AU 0.990216 1 0.9987 1 0 D -1.034 T Uncertain 7_46736734_A->- 7 46736734 46736734 A - indel 317.74 1/1 27 14 0 14 1.0 intergenic rs71003346 IGFBP3 AU 0.977236 1 Uncertain 7_47242645_A->G 7 47242645 47242645 A G snp 113.77 0/1 99 10 5 5 0.5 intergenic rs4720584 IGFBP3 AU 0.375799 0.4226 Uncertain 7_47319723_C->T 7 47319723 47319723 C T snp 341.77 0/1 99 31 12 19 0.61 intronic rs4720590 TNS3 AU NM_022748 exon2 c.2088-38C>T 0.710463 0.5933 0.703271 0.6861 0.6023 Uncertain 7_47323456_A->G 7 47323456 47323456 A G snp 1806.77 0/1 99 172 90 82 0.48 exonic rs3750164 TNS3 AU synonymous SNV NM_022748 exon28 c.T3936C p.N1312N 0.702077 0.6319 0.695137 0.6833 0.6438 Uncertain 7_47333332_G->A 7 47333332 47333332 G A snp 1930.77 0/1 99 143 59 84 0.59 exonic rs75253453 TNS3 AU synonymous SNV NM_022748 exon25 c.C3771T p.F1257F 0.0473243 0.1458 0.001546 0.0264 0.1474 Uncertain 7_47336893_-->T 7 47336893 47336893 - T indel 476.73 0/1 99 34 19 15 0.44 intronic rs34159238 TNS3 AU NM_022748 exon8 c.19138+82insT Uncertain 7_47408029_A->G 7 47408029 47408029 A G snp 955.77 0/1 99 98 56 42 0.43 exonic rs2255744 TNS3 AU synonymous SNV NM_022748 exon17 c.T2214C p.G738G 0.629593 0.4603 0.758286 0.7417 0.4643 Uncertain 7_47408443_C->G 7 47408443 47408443 C G snp 2704.77 0/1 99 167 61 106 0.63 exonic rs2293362 TNS3 AU nonsynonymous SNV NM_022748 exon17 c.G1800C p.Q600H 0.057508 0.1964 0.024832 0.0470 0.2044 0.16 T 1.000 P -1.010 T 0.009 T 0.01 T Pathogenic 7_47408974_T->A 7 47408974 47408974 T A snp 2715.77 0/1 99 242 132 110 0.45 exonic rs1534136 TNS3 AU synonymous SNV NM_022748 exon17 c.A1269T p.A423A 0.635583 0.4593 0.760219 0.7375 0.4607 Uncertain 7_47436558_A->C 7 47436558 47436558 A C snp 546.77 1/1 42 16 0 16 1.0 intronic rs2177795 TNS3 AU NM_022748 exon16 c.118828+57A>C 0.903954 0.995 Uncertain 7_47451295_A->G 7 47451295 47451295 A G snp 1752.77 1/1 99 54 0 54 1.0 intronic rs834607 TNS3 AU NM_022748 exon19 c.133651-29A>G 0.983227 1 0.985134 0.9949 0.9998 Uncertain 7_47463842_T->G 7 47463842 47463842 T G snp 1632.77 1/1 99 54 0 54 1.0 intronic rs834599 TNS3 AU NM_022748 exon22 c.146109+60T>G 0.369209 0.2738 0.414586 Uncertain 7_47463937_C->T 7 47463937 47463937 C T snp 161.9 1/1 15 5 0 5 1.0 intronic rs834598 TNS3 AU NM_022748 exon22 c.146109+155C>T 0.369209 0.2738 Uncertain 7_47467787_A->G 7 47467787 47467787 A G snp 224.84 1/1 18 6 0 6 1.0 intronic rs1704969 TNS3 AU NM_022748 exon23 c.150236-122A>G 0.365016 0.2728 Uncertain 7_47467864_C->T 7 47467864 47467864 C T snp 1329.77 1/1 99 44 0 44 1.0 intronic rs1799370 TNS3 AU NM_022748 exon23 c.150236-45C>T 0.365216 0.2728 0.413428 0.4047 0.3037 Uncertain 7_47479363_A->G 7 47479363 47479363 A G snp 878.77 1/1 63 30 0 30 1.0 intronic rs1810137 TNS3 AU NM_022748 exon26 c.161583+107A>G 0.233427 0.2599 Uncertain 7_47481786_A->T 7 47481786 47481786 A T snp 505.77 1/1 39 16 0 16 1.0 intronic rs1620852 TNS3 AU NM_022748 exon27 c.163980+133A>T 0.364018 0.2718 Uncertain 7_47546375_C->T 7 47546375 47546375 C T snp 267.8 1/1 21 12 0 12 1.0 intronic rs334496 TNS3 AU NM_022748 exon29 c.228831-129C>T 0.635184 0.6657 Uncertain 7_47546466_G->A 7 47546466 47546466 G A snp 719.77 0/1 99 63 28 35 0.56 intronic rs73095186 TNS3 AU NM_022748 exon29 c.228831-38G>A 0.171925 0.2718 0.1881 0.2806 Uncertain 7_47546547_G->A 7 47546547 47546547 G A snp 1226.77 0/1 62 68 7 61 0.9 splicing rs334497 TNS3 AU NM_022748 exon29 c.228869+5G>A 0.491214 0.6042 0.4706 0.4821 Pathogenic 7_47578450_A->T 7 47578450 47578450 A T snp 909.77 1/1 66 28 0 28 1.0 intronic rs334507 TNS3 AU NM_022748 exon30 c.251072+9705A>T 0.339058 0.4405 Uncertain 7_47578772_T->C 7 47578772 47578772 T C snp 359.78 1/1 27 12 0 12 1.0 intronic rs334506 TNS3 AU NM_022748 exon30 c.251072+10027T>C 0.991214 1 Uncertain 7_47596930_A->G 7 47596930 47596930 A G snp 141.03 1/1 12 4 0 4 1.0 intronic rs604587 TNS3 AU NM_022748 exon31 c.303975-24718A>G 0.977037 0.999 Uncertain 7_47698685_A->G 7 47698685 47698685 A G snp 535.77 0/1 99 71 48 23 0.32 exonic rs12531737 C7orf65 AU synonymous SNV NM_001123065 exon3 c.A315G p.G105G 0.159944 0.1905 0.193495 0.2304 0.2045 Uncertain 7_47835027_A->G 7 47835027 47835027 A G snp 1227.77 1/1 87 45 0 45 1.0 exonic rs9719534 C7orf69 AU nonsynonymous SNV NM_025031 exon1 c.A94G p.K32E 0.665335 0.6528 0.6795 0.6493 1 T 0.000 P -0.914 T 0.0 T 0.0 T Pathogenic 7_47835814_G->A 7 47835814 47835814 G A snp 128.03 1/1 12 4 0 4 1.0 intronic rs6943728 C7orf69 AU NM_025031 exon1 c.108+773G>A 0.44369 0.6042 Uncertain 7_47840510_T->C 7 47840510 47840510 T C snp 1290.77 1/1 93 39 0 39 1.0 intronic rs1466203 C7orf69 AU NM_025031 exon1 c.108+5469T>C 0.841054 0.9226 0.844740 0.8465 0.9352 Uncertain 7_47847679_G->A 7 47847679 47847679 G A snp 291.78 1/1 24 9 0 9 1.0 intronic rs1074780 C7orf69 AU NM_025031 exon2 c.22690-9944G>A 0.719649 0.7133 Uncertain 7_47853397_G->A 7 47853397 47853397 G A snp 1025.77 0/1 99 98 53 45 0.46 intronic rs4595031 C7orf69 AU NM_001302627 exon2 c.51+230G>A 0.183506 0.4276 Uncertain 7_47853498_C->T 7 47853498 47853498 C T snp 4483.77 1/1 99 163 0 163 1.0 intronic rs6463449 C7orf69 AU NM_001302627 exon2 c.51+331C>T 0.98123 1 0.984776 0.9954 1 Uncertain 7_47859239_C->A 7 47859239 47859239 C A snp 1683.77 1/1 99 53 0 53 1.0 UTR3 rs3757379 C7orf69 AU 0.432508 0.6319 0.405829 0.4335 0.6471 Uncertain 7_47869751_C->T 7 47869751 47869751 C T snp 846.77 1/1 63 25 0 25 1.0 intronic rs6463451 PKD1L1 AU NM_138295 exon15 c.54982+29C>T 0.39996 0.626 0.374596 0.4106 0.6404 Uncertain 7_47872845_A->G 7 47872845 47872845 A G snp 3084.77 1/1 99 114 1 113 0.99 exonic rs921634 PKD1L1 AU synonymous SNV NM_138295 exon41 c.T6180C p.P2060P 0.730631 0.9028 0.713594 0.7333 0.9000 Uncertain 7_47884555_A->G 7 47884555 47884555 A G snp 3571.77 1/1 99 126 0 126 1.0 intronic rs13237611 PKD1L1 AU NM_138295 exon25 c.69852-37A>G 0.444688 0.6548 0.400584 0.4503 0.6701 Uncertain 7_47904737_G->A 7 47904737 47904737 G A snp 101.28 1/1 9 4 0 4 1.0 intronic rs1554495 PKD1L1 AU NM_138295 exon32 c.90073-76G>A 0.437101 0.627 Uncertain 7_47913579_T->C 7 47913579 47913579 T C snp 7241.77 1/1 99 250 1 249 1.0 exonic rs1470859 PKD1L1 AU nonsynonymous SNV NM_138295 exon24 c.A3814G p.K1272E 0.91853 0.9742 0.872367 0.8688 0.9813 0.3 T 0.0 P -0.973 T 0.0 T 0.0 T Pathogenic 7_47921682_A->T 7 47921682 47921682 A T snp 607.77 0/1 99 38 15 23 0.61 exonic rs10951936 PKD1L1 AU synonymous SNV NM_138295 exon20 c.T3267A p.A1089A 0.247204 0.2242 0.289866 0.3007 0.2329 Uncertain 7_47921786_G->C 7 47921786 47921786 G C snp 157.77 0/1 94 11 4 7 0.64 intronic rs116637880 PKD1L1 AU NM_138295 exon38 c.106943+103G>C 0.260783 0.249 Uncertain 7_47921787_C->G 7 47921787 47921787 C G snp 121.77 0/1 99 9 4 5 0.56 intronic rs35458531 PKD1L1 AU NM_138295 exon38 c.106943+104C>G 0.259185 0.249 Uncertain 7_47921788_T->G 7 47921788 47921788 T G snp 117.77 0/1 99 9 4 5 0.56 intronic rs201659864 PKD1L1 AU NM_138295 exon38 c.106943+105T>G 0.260783 0.249 Uncertain 7_47921798_C->A 7 47921798 47921798 C A snp 124.77 0/1 69 8 3 5 0.63 intronic rs12702396 PKD1L1 AU NM_138295 exon38 c.106943+115C>A 0.258586 0.245 Uncertain 7_47921824_C->T 7 47921824 47921824 C T snp 86.77 0/1 30 5 2 3 0.6 intronic rs12702397 PKD1L1 AU NM_138295 exon38 c.106943+141C>T 0.269369 0.246 Uncertain 7_47924454_G->A 7 47924454 47924454 G A snp 457.77 0/1 99 30 16 14 0.47 intronic rs10464386 PKD1L1 AU NM_138295 exon39 c.109515+199G>A 0.442692 0.5317 Uncertain 7_47925331_C->G 7 47925331 47925331 C G snp 1856.77 1/1 99 64 0 64 1.0 exonic rs10274334 PKD1L1 AU nonsynonymous SNV NM_138295 exon18 c.G3158C p.R1053P 0.585264 0.6359 0.527141 0.4846 0.6778 0.56 T 0.0 P -0.997 T 0.0 T 0.0 T Pathogenic 7_47943953_C->T 7 47943953 47943953 C T snp 2916.77 1/1 99 109 0 109 1.0 intronic rs11766212 PKD1L1 AU NM_138295 exon46 c.129234-21C>T 0.274161 0.4425 0.274566 0.3431 0.4715 Uncertain 7_47947863_T->C 7 47947863 47947863 T C snp 1326.77 1/1 96 42 0 42 1.0 intronic rs1474283 PKD1L1 AU NM_138295 exon49 c.133107+16T>C 0.734026 0.7312 0.708519 0.6671 0.7815 Uncertain 7_47968927_C->A 7 47968927 47968927 C A snp 5036.77 1/1 99 179 0 179 1.0 exonic rs2686817 PKD1L1 AU nonsynonymous SNV NM_138295 exon7 c.G934T p.V312F 0.484824 0.5089 0.492234 0.4885 0.5414 0 D 0.0 P -0.943 T 1.0 D 0.994 D Pathogenic 7_47971575_A->G 7 47971575 47971575 A G snp 3254.77 1/1 99 107 0 107 1.0 exonic rs885337 PKD1L1 AU synonymous SNV NM_138295 exon5 c.T477C p.C159C 0.478834 0.5149 0.493234 0.4977 0.5474 Uncertain 7_47971866_C->T 7 47971866 47971866 C T snp 52.74 1/1 6 2 0 2 1.0 intronic rs939904 PKD1L1 AU NM_138295 exon53 c.156913+213C>T 0.510982 0.5139 Uncertain 7_47976287_A->G 7 47976287 47976287 A G snp 1304.77 1/1 96 38 0 38 1.0 intronic rs2708878 PKD1L1 AU NM_138295 exon54 c.161702-155A>G 0.516973 0.5129 Uncertain 7_47976682_G->C 7 47976682 47976682 G C snp 50.74 1/1 6 2 0 2 1.0 intronic rs60107343 PKD1L1 AU NM_138295 exon54 c.161815+127G>C 0.499601 0.5129 Uncertain 7_47979922_A->G 7 47979922 47979922 A G snp 1993.98 1/1 13 87 5 82 0.94 intronic rs2708913 PKD1L1 AU NM_138295 exon55 c.165174+8A>G 0.496406 0.5119 0.509303 0.5529 0.5739 Uncertain 7_48004962_C->T 7 48004962 48004962 C T snp 3987.77 1/1 99 146 0 146 1.0 exonic rs1056663 HUS1 AU synonymous SNV NM_004507 exon8 c.G834A p.A278A 0.423323 0.5119 0.443872 0.4840 0.5499 Uncertain 7_48005122_G->A 7 48005122 48005122 G A snp 3535.77 1/1 99 131 0 131 1.0 intronic rs2037483 HUS1 AU NM_004507 exon1 c.83+87G>A 0.423323 0.5119 Uncertain 7_48005250_A->G 7 48005250 48005250 A G snp 292.78 1/1 24 8 0 8 1.0 intronic rs2037484 HUS1 AU NM_004507 exon1 c.83+215A>G 0.867013 0.9683 Uncertain 7_48009018_A->G 7 48009018 48009018 A G snp 1023.77 1/1 72 39 0 39 1.0 intronic rs953595 HUS1 AU NM_004507 exon3 c.3963+103A>G 0.419728 0.5139 Uncertain 7_48009019_A->T 7 48009019 48009019 A T snp 1020.77 1/1 72 39 0 39 1.0 intronic rs953594 HUS1 AU NM_004507 exon3 c.3963+104A>T 0.419928 0.5139 Uncertain 7_48010978_T->C 7 48010978 48010978 T C snp 2285.77 1/1 99 70 0 70 1.0 intronic rs2708864 HUS1 AU NM_004507 exon3 c.3963+2063T>C 0.847644 0.9683 Uncertain 7_48017965_C->T 7 48017965 48017965 C T snp 1711.77 1/1 99 50 0 50 1.0 intronic rs2242477 HUS1 AU NM_004507 exon6 c.13061-48C>T 0.427915 0.5129 0.445717 0.4863 0.5510 Uncertain 7_48017989_T->C 7 48017989 48017989 T C snp 2629.77 1/1 99 86 0 86 1.0 intronic rs2242478 HUS1 AU NM_004507 exon6 c.13061-24T>C 0.433307 0.5129 0.453022 0.4891 0.5531 Uncertain 7_48018455_T->A 7 48018455 48018455 T A snp 1869.77 1/1 99 66 0 66 1.0 intronic rs2242479 HUS1 AU NM_004507 exon7 c.13461+42T>A 0.433307 0.5129 0.453022 0.4897 0.5541 Uncertain 7_48028512_G->C 7 48028512 48028512 G C snp 1470.77 0/1 99 139 79 60 0.43 intronic rs3736547 SUN3 AU NM_152782 exon2 c.1551+35G>C 0.253594 0.4484 0.250884 0.3073 0.4944 Uncertain 7_48035893_T->C 7 48035893 48035893 T C snp 101.28 1/1 9 4 0 4 1.0 intronic rs2708899 SUN3 AU NM_152782 exon4 c.8817+150T>C 0.831869 0.7014 Uncertain 7_48045367_T->G 7 48045367 48045367 T G snp 43.77 0/1 72 4 2 2 0.5 intronic rs12702405 SUN3 AU NM_152782 exon5 c.18639-198T>G 0.448482 0.2857 Uncertain 7_48045416_C->T 7 48045416 48045416 C T snp 254.77 0/1 99 24 14 10 0.42 intronic rs11767002 SUN3 AU NM_152782 exon5 c.18639-149C>T 0.448482 0.2857 Uncertain 7_48045447_-->C 7 48045447 48045447 - C indel 425.73 0/1 99 48 25 23 0.48 intronic rs34145615 SUN3 AU NM_152782 exon5 c.18639-118insC 0.357827 0.2698 Uncertain 7_48046714_G->A 7 48046714 48046714 G A snp 395.77 0/1 99 29 15 14 0.48 intronic rs1574242 SUN3 AU NM_152782 exon6 c.19835-47G>A 0.465655 0.2877 0.490697 0.4259 0.2682 Uncertain 7_48068258_G->C 7 48068258 48068258 G C snp 107.77 0/1 99 12 7 5 0.42 intronic rs7357251 SUN3 AU NM_152782 exon10 c.41487-155G>C 0.354433 0.3304 Uncertain 7_48075030_C->G 7 48075030 48075030 C G snp 159.77 0/1 99 20 10 10 0.5 upstream rs1915972 C7orf57 AU 0.364417 0.3284 Uncertain 7_48081095_G->T 7 48081095 48081095 G T snp 720.77 0/1 99 67 34 33 0.49 exonic rs10951942 C7orf57 AU nonsynonymous SNV NM_001100159 exon3 c.G220T p.A74S 0.357428 0.3294 0.366020 0.4035 0.3120 0 D 1.000 P -0.977 T 0.989 D 0.962 D Pathogenic 7_48083339_A->T 7 48083339 48083339 A T snp 188.77 0/1 54 8 2 6 0.75 intronic rs6978838 C7orf57 AU NM_001100159 exon4 c.7281+153A>T 0.455471 0.3016 Uncertain 7_48086077_C->T 7 48086077 48086077 C T snp 2408.77 1/1 99 94 0 94 1.0 exonic rs2708912 C7orf57 AU nonsynonymous SNV NM_001267865 exon4 c.C5T p.P2L 0.821286 0.745 0.874721 0.8717 0.7426 0.08 T 1.000 P -1.059 T 0.858 T 0.275 P Pathogenic 7_48086161_T->C 7 48086161 48086161 T C snp 3770.77 1/1 99 141 0 141 1.0 exonic rs10233232 C7orf57 AU nonsynonymous SNV NM_001267865 exon4 c.T89C p.M30T 0.821086 0.744 0.875597 0.8722 0.7451 0.67 T 0.008 P -0.902 T 0.763 T 0.173 P Pathogenic 7_48089394_T->C 7 48089394 48089394 T C snp 4508.77 1/1 99 162 0 162 1.0 intronic rs909059 C7orf57 AU NM_001100159 exon6 c.13571-82T>C 0.821486 0.746 Uncertain 7_48089542_T->C 7 48089542 48089542 T C snp 3468.77 1/1 99 119 0 119 1.0 exonic rs2686788 C7orf57 AU synonymous SNV NM_001267865 exon5 c.T207C p.N69N 0.82508 0.746 0.883065 0.8729 0.7421 Uncertain 7_48089571_C->A 7 48089571 48089571 C A snp 2508.77 1/1 99 86 0 86 1.0 exonic rs2708890 C7orf57 AU nonsynonymous SNV NM_001267865 exon5 c.C236A p.P79H 0.821486 0.746 0.878496 0.8707 0.7389 0.1 T 1.0 P -1.081 T 1.0 D 0.976 D Pathogenic 7_48092486_T->C 7 48092486 48092486 T C snp 2532.77 1/1 99 80 0 80 1.0 exonic rs2686791 C7orf57 AU synonymous SNV NM_001267865 exon6 c.T381C p.D127D 0.825479 0.746 0.882633 0.8736 0.7441 Uncertain 7_48092601_C->T 7 48092601 48092601 C T snp 1611.77 0/1 99 175 101 74 0.42 intronic rs17547209 C7orf57 AU NM_001100159 exon7 c.16615+81C>T 0.274161 0.2312 Uncertain 7_48092644_C->T 7 48092644 48092644 C T snp 1483.77 0/1 99 177 104 73 0.41 intronic rs17629333 C7orf57 AU NM_001100159 exon7 c.16615+124C>T 0.274161 0.2312 0.3795 0.2764 Uncertain 7_48092847_C->A 7 48092847 48092847 C A snp 139.03 1/1 12 4 0 4 1.0 intronic rs2686792 C7orf57 AU NM_001100159 exon7 c.16615+327C>A 0.848043 0.746 Uncertain 7_48094455_G->C 7 48094455 48094455 G C snp 342.77 0/1 99 17 7 10 0.59 intronic rs12531564 C7orf57 AU NM_001100159 exon8 c.18298+252G>C 0.276957 0.2341 Uncertain 7_48094467_T->G 7 48094467 48094467 T G snp 334.78 1/1 27 9 0 9 1.0 intronic rs2686793 C7orf57 AU NM_001100159 exon8 c.18298+264T>G 0.781949 0.7272 Uncertain 7_48094470_T->G 7 48094470 48094470 T G snp 222.84 1/1 18 6 0 6 1.0 intronic rs62447117 C7orf57 AU NM_001100159 exon8 c.18298+267T>G 0.725439 0.6627 Uncertain 7_48094473_T->G 7 48094473 48094473 T G snp 77.77 0/1 99 6 3 3 0.5 intronic rs13309347 C7orf57 AU NM_001100159 exon8 c.18298+270T>G 0.399561 0.2798 Uncertain 7_48094476_T->G 7 48094476 48094476 T G snp 80.77 0/1 99 6 3 3 0.5 intronic rs12534257 C7orf57 AU NM_001100159 exon8 c.18298+273T>G 0.285743 0.25 Uncertain 7_48100016_T->C 7 48100016 48100016 T C snp 174.9 1/1 15 5 0 5 1.0 UTR3 rs7790252 C7orf57 AU 0.27516 0.2312 Uncertain 7_48211301_C->T 7 48211301 48211301 C T snp 221.84 1/1 18 7 0 7 1.0 intronic rs141832114 ABCA13 AU NM_152701 exon1 c.69+152C>T 0.908347 0.9702 Uncertain 7_48237802_C->T 7 48237802 48237802 C T snp 1130.77 0/1 99 76 31 45 0.59 intronic rs2188 ABCA13 AU NM_152701 exon3 c.26753-31C>T 0.353834 0.4792 0.393947 0.4575 0.4411 Uncertain 7_48269679_G->C 7 48269679 48269679 G C snp 318.77 0/1 99 23 13 10 0.43 intronic rs60553397 ABCA13 AU NM_152701 exon7 c.58472+127G>C 0.881789 0.8433 Uncertain 7_48273869_T->C 7 48273869 48273869 T C snp 301.77 0/1 99 16 7 9 0.56 intronic rs7357106 ABCA13 AU NM_152701 exon8 c.62668+121T>C 0.426518 0.1746 Uncertain 7_48280454_G->A 7 48280454 48280454 G A snp 266.77 0/1 99 42 29 13 0.31 intronic rs62449168 ABCA13 AU NM_152701 exon10 c.69383-9G>A 0.117013 0.1528 0.086371 0.1261 0.1766 Uncertain 7_48285485_C->T 7 48285485 48285485 C T snp 2179.77 0/1 99 175 81 94 0.54 exonic rs1880738 ABCA13 AU nonsynonymous SNV NM_152701 exon13 c.C1517T p.P506L 0.40655 0.6181 0.351638 0.4441 0.5796 0.69 T 0.0 P -0.951 T 0.0 T 0.0 T Pathogenic 7_48285664_A->C 7 48285664 48285664 A C snp 461.77 0/1 99 28 12 16 0.57 intronic rs1405127 ABCA13 AU NM_152701 exon13 c.74547+37A>C 0.240016 0.1508 0.207447 0.1800 0.1856 Uncertain 7_48287840_G->A 7 48287840 48287840 G A snp 2089.77 0/1 99 150 62 88 0.59 exonic rs2361519 ABCA13 AU nonsynonymous SNV NM_152701 exon14 c.G1664A p.R555H 0.198083 0.1508 0.161710 0.1537 0.1778 1 T 0.0 P -0.916 T 0.002 T 0.001 T Pathogenic 7_48311485_A->C 7 48311485 48311485 A C snp 1538.77 0/1 99 149 85 64 0.43 exonic rs117022697 ABCA13 AU nonsynonymous SNV NM_152701 exon17 c.A2222C p.E741A 0.0133786 0.0655 0.000085 0.0067 0.0872 0 D 1 D -0.641 T 0.78 T 0.265 P Pathogenic 7_48311563_T->G 7 48311563 48311563 T G snp 2687.77 0/1 99 242 130 112 0.46 exonic rs17712293 ABCA13 AU nonsynonymous SNV NM_152701 exon17 c.T2300G p.I767S 0.194489 0.2153 0.148472 0.1728 0.2257 0.01 T 0.0 P -1.085 T 0.294 T 0.057 T Pathogenic 7_48312674_G->A 7 48312674 48312674 G A snp 1805.77 0/1 99 137 60 77 0.56 exonic rs1358066 ABCA13 AU synonymous SNV NM_152701 exon17 c.G3411A p.V1137V 0.57528 0.7708 0.494518 0.5356 0.7638 Uncertain 7_48313949_C->T 7 48313949 48313949 C T snp 1101.77 0/1 99 80 36 44 0.55 exonic rs6583483 ABCA13 AU synonymous SNV NM_152701 exon17 c.C4686T p.Y1562Y 0.126597 0.1518 0.094097 0.1287 0.1722 Uncertain 7_48314279_G->A 7 48314279 48314279 G A snp 2954.77 0/1 99 250 132 118 0.47 exonic rs6955212 ABCA13 AU synonymous SNV NM_152701 exon17 c.G5016A p.K1672K 0.193291 0.2153 0.145483 0.1713 0.2248 Uncertain 7_48315796_C->A 7 48315796 48315796 C A snp 2185.77 1/1 99 71 0 71 1.0 exonic rs1880736 ABCA13 AU nonsynonymous SNV NM_152701 exon17 c.C6533A p.A2178E 0.812899 0.9881 0.697050 0.7330 0.9863 0.000 P -0.982 T 0.0 T 0.0 T Pathogenic 7_48318811_C->T 7 48318811 48318811 C T snp 2195.77 1/1 99 76 0 76 1.0 exonic rs2222648 ABCA13 AU nonsynonymous SNV NM_152701 exon18 c.C8020T p.R2674W 0.852236 0.9921 0.774199 0.8045 0.9907 1 T 0.0 P -0.947 T 0.0 T 0.0 T Pathogenic 7_48335265_C->T 7 48335265 48335265 C T snp 1221.77 1/1 87 45 0 45 1.0 intronic rs10280046 ABCA13 AU NM_152701 exon21 c.124216-31C>T 0.807708 0.9881 0.693140 0.7212 0.9883 Uncertain 7_48336844_C->T 7 48336844 48336844 C T snp 4574.77 1/1 99 175 0 175 1.0 exonic rs6583546 ABCA13 AU synonymous SNV NM_152701 exon22 c.C9135T p.L3045L 0.76897 0.9881 0.648949 0.7253 0.9883 Uncertain 7_48352570_G->A 7 48352570 48352570 G A snp 589.77 0/1 99 33 10 23 0.7 intronic rs56322731 ABCA13 AU NM_152701 exon25 c.141583-93G>A 0.226238 0.1736 Uncertain 7_48391642_G->C 7 48391642 48391642 G C snp 196.77 0/1 99 19 12 7 0.37 intronic rs4145714 ABCA13 AU NM_152701 exon31 c.180697-135G>C 0.261581 0.3065 Uncertain 7_48415892_A->G 7 48415892 48415892 A G snp 590.77 1/1 45 16 0 16 1.0 intronic rs2163938 ABCA13 AU NM_152701 exon35 c.204957-145A>G 0.899161 0.9286 Uncertain 7_48428715_A->T 7 48428715 48428715 A T snp 1970.77 0/1 99 196 108 88 0.45 exonic rs17132289 ABCA13 AU nonsynonymous SNV NM_152701 exon37 c.A11552T p.Y3851F 0.0856629 0.1121 0.079746 0.0814 0.1195 0.29 T 0.000 P -0.651 T 0.976 D 0.575 D Pathogenic 7_48431389_-->A 7 48431389 48431389 - A indel 783.73 1/1 69 23 0 23 1.0 intronic rs113609560 ABCA13 AU NM_152701 exon38 c.220437-128insA 0.260583 0.2728 Uncertain 7_48431762_C->T 7 48431762 48431762 C T snp 343.78 1/1 27 10 0 10 1.0 intronic rs7780299 ABCA13 AU NM_152701 exon38 c.220656+26C>T 0.231829 0.253 0.204401 0.1716 0.2808 Uncertain 7_48443570_G->A 7 48443570 48443570 G A snp 952.77 0/1 99 91 51 40 0.44 intronic rs6978753 ABCA13 AU NM_152701 exon39 c.232396+94G>A 0.373203 0.4276 0.3863 0.4894 Uncertain 7_48450097_C->T 7 48450097 48450097 C T snp 2862.77 0/1 99 210 97 113 0.54 intronic rs62447267 ABCA13 AU NM_152701 exon40 c.239036-19C>T 0.16853 0.2192 0.175591 0.2033 0.2505 Uncertain 7_48450157_T->C 7 48450157 48450157 T C snp 7522.77 1/1 99 248 0 248 1.0 exonic rs17548783 ABCA13 AU synonymous SNV NM_152701 exon40 c.T12111C p.A4037A 0.46266 0.5784 0.466290 0.4734 0.6267 Uncertain 7_48450289_C->G 7 48450289 48450289 C G snp 1715.77 0/1 99 128 63 65 0.51 intronic rs62447268 ABCA13 AU NM_152701 exon40 c.239194+15C>G 0.165935 0.2073 0.175227 0.2073 0.2459 Uncertain 7_48451939_T->C 7 48451939 48451939 T C snp 918.77 0/1 99 56 16 40 0.71 intronic rs1865195 ABCA13 AU NM_152701 exon41 c.240869-10T>C 0.166534 0.2073 0.166298 0.2558 0.3183 Uncertain 7_48452200_G->A 7 48452200 48452200 G A snp 1418.77 0/1 99 127 72 55 0.43 intronic rs7789493 ABCA13 AU NM_152701 exon41 c.241100+20G>A 0.166534 0.2073 0.178198 0.2081 0.2472 Uncertain 7_48467218_C->G 7 48467218 48467218 C G snp 56.74 1/1 6 2 0 2 1.0 intronic rs35418390 ABCA13 AU NM_152701 exon42 c.256282-144C>G 0.140176 0.2222 Uncertain 7_48467224_A->C 7 48467224 48467224 A C snp 56.74 1/1 6 2 0 2 1.0 intronic rs35073581 ABCA13 AU NM_152701 exon42 c.256282-138A>C 0.140176 0.2222 Uncertain 7_48467355_T->C 7 48467355 48467355 T C snp 685.77 0/1 99 72 38 34 0.47 intronic rs13233421 ABCA13 AU NM_152701 exon42 c.256282-7T>C 0.276757 0.3472 0.273951 0.3139 0.3952 Uncertain 7_48467581_T->C 7 48467581 48467581 T C snp 514.77 0/1 99 54 31 23 0.43 intronic rs13243091 ABCA13 AU NM_152701 exon42 c.256388+113T>C 0.276957 0.3472 Uncertain 7_48467634_T->C 7 48467634 48467634 T C snp 140.77 0/1 99 13 8 5 0.38 intronic rs34541457 ABCA13 AU NM_152701 exon42 c.256388+166T>C 0.276957 0.3472 Uncertain 7_48506566_A->G 7 48506566 48506566 A G snp 662.77 0/1 99 72 44 28 0.39 exonic rs4917152 ABCA13 AU nonsynonymous SNV NM_152701 exon44 c.A12829G p.N4277D 0.230831 0.2163 0.178264 0.1703 0.2456 1 T 0.0 P -1.087 T 0.0 T 0.0 T Pathogenic 7_48506642_A->G 7 48506642 48506642 A G snp 773.77 0/1 99 113 74 39 0.35 exonic rs4917153 ABCA13 AU nonsynonymous SNV NM_152701 exon44 c.A12905G p.Q4302R 0.230631 0.2163 0.174975 0.1703 0.2459 0.56 T 1.000 P -1.082 T 0.0 T 0.001 T Pathogenic 7_48506707_A->G 7 48506707 48506707 A G snp 564.77 0/1 99 88 58 30 0.34 intronic rs4917154 ABCA13 AU NM_152701 exon44 c.295562+65A>G 0.231829 0.2163 Uncertain 7_48506727_G->A 7 48506727 48506727 G A snp 473.77 0/1 99 72 49 23 0.32 intronic rs4917155 ABCA13 AU NM_152701 exon44 c.295562+85G>A 0.230631 0.2163 Uncertain 7_48511297_T->C 7 48511297 48511297 T C snp 1416.77 1/1 99 47 0 47 1.0 intronic rs7810026 ABCA13 AU NM_152701 exon45 c.300116+101T>C 0.379393 0.4405 Uncertain 7_48511343_T->C 7 48511343 48511343 T C snp 295.77 0/1 99 22 11 11 0.5 intronic rs10251517 ABCA13 AU NM_152701 exon45 c.300116+147T>C 0.230831 0.2163 Uncertain 7_48520507_G->A 7 48520507 48520507 G A snp 175.77 0/1 99 13 7 6 0.46 intronic rs10249009 ABCA13 AU NM_152701 exon46 c.309552-125G>A 0.196885 0.2153 Uncertain 7_48520780_A->T 7 48520780 48520780 A T snp 4971.77 1/1 99 166 0 166 1.0 intronic rs4472462 ABCA13 AU NM_152701 exon46 c.309671+29A>T 0.448283 0.5099 0.397397 0.4401 0.5661 Uncertain 7_48522845_C->G 7 48522845 48522845 C G snp 571.77 1/1 45 19 0 19 1.0 intronic rs1918584 ABCA13 AU NM_152701 exon47 c.311680+85C>G 0.600439 0.6488 Uncertain 7_48522846_A->G 7 48522846 48522846 A G snp 478.77 1/1 36 16 1 15 0.94 intronic rs1918585 ABCA13 AU NM_152701 exon47 c.311680+86A>G 0.600439 0.6488 Uncertain 7_48528732_G->A 7 48528732 48528732 G A snp 63.77 0/1 92 10 7 3 0.3 intronic rs17730186 ABCA13 AU NM_152701 exon48 c.317752-100G>A 0.210663 0.2827 Uncertain 7_48545879_A->T 7 48545879 48545879 A T snp 1758.77 1/1 99 55 0 55 1.0 intronic rs6583447 ABCA13 AU NM_152701 exon49 c.334851-52A>T 0.33127 0.37 0.271353 Uncertain 7_48545976_A->G 7 48545976 48545976 A G snp 4391.77 1/1 99 162 1 161 0.99 exonic rs6583448 ABCA13 AU nonsynonymous SNV NM_152701 exon49 c.A13336G p.K4446E 1 1 1 1 1 T 0.0 P -0.939 T 0.0 T 0.0 T Pathogenic 7_48550546_C->T 7 48550546 48550546 C T snp 74.77 0/1 99 8 5 3 0.38 intronic rs79049090 ABCA13 AU NM_152701 exon51 c.339599-133C>T 0.0371406 0.0833 Uncertain 7_48563752_A->C 7 48563752 48563752 A C snp 299.77 0/1 99 31 19 12 0.39 intronic rs11185607 ABCA13 AU NM_152701 exon54 c.352763-91A>C 0.511981 0.4345 Uncertain 7_48626645_C->G 7 48626645 48626645 C G snp 52.74 1/1 6 2 0 2 1.0 intronic rs7778411 ABCA13 AU NM_152701 exon57 c.415669-104C>G 0.74381 0.6786 Uncertain 7_48654746_C->A 7 48654746 48654746 C A snp 1410.77 1/1 99 44 0 44 1.0 intronic rs10255431 ABCA13 AU NM_152701 exon59 c.443800-134C>A 0.45607 0.3333 Uncertain 7_48654761_G->A 7 48654761 48654761 G A snp 1718.77 1/1 99 56 0 56 1.0 intronic rs10243913 ABCA13 AU NM_152701 exon59 c.443800-119G>A 0.45607 0.3333 Uncertain 7_48682996_C->G 7 48682996 48682996 C G snp 1448.77 0/1 99 146 83 63 0.43 intronic rs28610321 ABCA13 AU NM_152701 exon60 c.471909+7C>G 0.169129 0.2113 0.115214 0.1364 0.2505 Uncertain 7_48886140_T->C 7 48886140 48886140 T C snp 2541.77 1/1 99 161 1 160 0.99 intergenic rs62454384 ABCA13 AU Uncertain 7_48886193_G->A 7 48886193 48886193 G A snp 899.77 0/1 99 221 143 78 0.35 intergenic rs3814470 ABCA13 AU Uncertain 7_48886383_G->T 7 48886383 48886383 G T snp 794.77 1/1 72 64 0 64 1.0 intergenic rs146940015 ABCA13 AU Uncertain 7_48886487_T->C 7 48886487 48886487 T C snp 1961.77 1/1 99 134 36 98 0.73 intergenic rs28454487 ABCA13 AU 0.910144 0.9573 Uncertain 7_48886648_G->A 7 48886648 48886648 G A snp 3653.77 1/1 99 140 0 140 1.0 intergenic rs409364 ABCA13 AU 0.928315 0.9762 Uncertain 7_48886746_C->T 7 48886746 48886746 C T snp 4889.77 1/1 99 201 2 199 0.99 intergenic rs4320498 ABCA13 AU 0.584665 0.6538 Uncertain 7_48886783_G->A 7 48886783 48886783 G A snp 1703.77 0/1 99 201 117 84 0.42 intergenic rs62454386 ABCA13 AU 0.247204 0.253 Uncertain 7_48886954_A->G 7 48886954 48886954 A G snp 176.9 1/1 15 6 0 6 1.0 intergenic rs2363991 ABCA13 AU 0.497804 0.5595 Uncertain 7_48887548_G->C 7 48887548 48887548 G C snp 3421.77 1/1 99 109 0 109 1.0 intergenic rs4404869 ABCA13 AU 0.58766 0.6478 0.6585 0.6266 Uncertain 7_48887627_C->G 7 48887627 48887627 C G snp 582.77 1/1 45 17 0 17 1.0 intergenic rs1990076 ABCA13 AU 0.928315 0.9762 0.9433 0.9718 Uncertain 7_48964172_G->C 7 48964172 48964172 G C snp 213.77 0/1 99 19 11 8 0.42 ncRNA_exonic rs6945680 CDC14C AU 0.533347 0.6855 Uncertain 7_48964210_G->- 7 48964210 48964210 G - indel 524.73 0/1 99 38 21 17 0.45 ncRNA_exonic rs58317831 CDC14C AU 0.532947 0.6855 Uncertain 7_48964255_A->C 7 48964255 48964255 A C snp 807.77 0/1 99 68 35 33 0.49 ncRNA_exonic rs6968293 CDC14C AU 0.533746 0.6855 0.5234 0.6868 Uncertain 7_48964322_G->T 7 48964322 48964322 G T snp 1556.77 0/1 99 162 94 68 0.42 ncRNA_exonic rs11767646 CDC14C AU 0.531949 0.6766 0.5117 0.6741 Uncertain 7_48965000_G->A 7 48965000 48965000 G A snp 2492.77 0/1 99 197 97 100 0.51 ncRNA_exonic rs10259692 CDC14C AU 0.533347 0.6855 0.5213 0.6796 Uncertain 7_48965141_A->G 7 48965141 48965141 A G snp 1014.77 0/1 99 250 169 81 0.32 ncRNA_exonic rs62456439 CDC14C AU 0.4729 0.4731 Uncertain 7_48965308_G->A 7 48965308 48965308 G A snp 208.77 0/1 99 161 130 31 0.19 ncRNA_exonic rs772729575 CDC14C AU 1.649e-05 0 Uncertain 7_48965427_A->G 7 48965427 48965427 A G snp 1559.77 0/1 99 239 102 137 0.57 ncRNA_exonic rs145470654 CDC14C AU 0.529553 0.6845 0.2283 0.2832 Uncertain 7_48965435_C->T 7 48965435 48965435 C T snp 46.77 0/1 75 250 206 44 0.18 ncRNA_exonic rs202081194 CDC14C AU 0.0374 0.0651 Uncertain 7_49951544_T->C 7 49951544 49951544 T C snp 180.9 1/1 15 7 0 7 1.0 intronic rs7792519 VWC2 AU NM_198570 exon4 c.136598-85T>C 0.765974 0.8859 Uncertain 7_50023122_C->T 7 50023122 50023122 C T snp 824.77 1/1 60 25 0 25 1.0 intronic rs988392 ZPBP AU NM_007009 exon2 c.45992+7C>T 0.783347 0.8839 0.802070 0.7857 0.8895 Uncertain 7_50070921_C->G 7 50070921 50070921 C G snp 99.28 1/1 9 3 0 3 1.0 intronic rs1351691 ZPBP AU NM_007009 exon4 c.93783+15C>G 0.761382 0.876 0.781887 0.7665 0.8781 Uncertain 7_50121269_G->A 7 50121269 50121269 G A snp 71.77 0/1 99 8 5 3 0.38 intronic rs3807322 ZPBP AU NM_007009 exon6 c.144246-100G>A 0.241613 0.6796 Uncertain 7_50132800_G->A 7 50132800 50132800 G A snp 67.77 0/1 96 8 4 4 0.5 UTR5 rs58847581 ZPBP AU 0.0415335 0.2004 0.0087 0.2077 Uncertain 7_50144059_-->TA 7 50144059 50144059 - TA indel 892.73 1/1 63 28 0 28 1.0 intronic rs3034461 C7orf72 AU NM_001161834 exon2 c.8326+52insTA 0.791334 0.9157 0.748247 Uncertain 7_50156916_C->G 7 50156916 50156916 C G snp 2278.77 1/1 99 88 0 88 1.0 intronic rs6959792 C7orf72 AU NM_001161834 exon3 c.33631-12396C>G 0.844649 0.9286 Uncertain 7_50169508_G->A 7 50169508 50169508 G A snp 700.77 1/1 51 25 0 25 1.0 intronic rs1456900 C7orf72 AU NM_001161834 exon3 c.33708+119G>A 0.84405 0.9296 Uncertain 7_50169595_T->A 7 50169595 50169595 T A snp 95.28 1/1 9 4 0 4 1.0 intronic rs1456899 C7orf72 AU NM_001161834 exon3 c.33708+206T>A 0.84405 0.9296 Uncertain 7_50173777_A->G 7 50173777 50173777 A G snp 921.77 0/1 99 90 47 43 0.48 exonic rs998928 C7orf72 AU nonsynonymous SNV NM_001161834 exon4 c.A802G p.T268A 0.586262 0.745 0.481822 0.4767 0.7323 0.75 T 0.000 P -0.979 T 0.0 T 0.0 T Pathogenic 7_50175435_C->T 7 50175435 50175435 C T snp 48.74 1/1 6 2 0 2 1.0 intronic rs17133694 C7orf72 AU NM_001161834 exon5 c.40012-258C>T 0.567093 0.7292 Uncertain 7_50175654_G->A 7 50175654 50175654 G A snp 911.77 0/1 99 85 40 45 0.53 intronic rs12718244 C7orf72 AU NM_001161834 exon5 c.40012-39G>A 0.262979 0.2014 0.3338 0.2097 Uncertain 7_50175681_C->T 7 50175681 50175681 C T snp 930.77 0/1 99 85 44 41 0.48 intronic rs12672941 C7orf72 AU NM_001161834 exon5 c.40012-12C>T 0.565096 0.7292 0.467806 0.4717 0.7163 Uncertain 7_50180972_C->T 7 50180972 50180972 C T snp 2362.77 0/1 99 210 109 101 0.48 exonic rs1456908 C7orf72 AU nonsynonymous SNV NM_001161834 exon7 c.C1073T p.T358I 0.33107 0.1974 0.398817 0.3888 0.2074 0.07 T 0.017 P -0.980 T 1.0 D 0.998 D Pathogenic 7_50191216_G->T 7 50191216 50191216 G T snp 1961.77 0/1 99 149 76 73 0.49 intronic rs10260654 C7orf72 AU NM_001161834 exon8 c.55472+63G>T 0.478035 0.7312 Uncertain 7_50191295_A->- 7 50191295 50191295 A - indel 140.73 0/1 99 16 5 11 0.69 intronic rs61109608 C7orf72 AU NM_001161834 exon8 c.55472+142delA 0.478634 0.7331 Uncertain 7_50198626_T->C 7 50198626 50198626 T C snp 2792.77 1/1 99 93 0 93 1.0 intronic rs4917120 C7orf72 AU NM_001161834 exon9 c.62960-15T>C 0.979034 1 0.986640 0.9960 1 Uncertain 7_50435617_A->T 7 50435617 50435617 A T snp 290.77 0/1 99 23 12 11 0.48 intronic rs11766800 IKZF1 AD NM_001291847 exon4 c.77046-86A>T 0.384784 0.3571 Uncertain 7_50436033_A->G 7 50436033 50436033 A G snp 1201.77 0/1 99 94 48 46 0.49 intronic rs10899750 IKZF1 AD NM_001291847 exon4 c.77106+270A>G 0.717652 0.5506 0.6862 0.5594 0 D 0.0 P -0.968 T 0.0 T 0.0 T Uncertain 7_50450446_C->T 7 50450446 50450446 C T snp 572.77 0/1 99 26 8 18 0.69 intronic rs113962761 IKZF1 AD NM_001220765 exon5 c.91748+41C>T 0.0613019 0.0625 0.062062 0.0955 0.0933 Uncertain 7_50537983_A->C 7 50537983 50537983 A C snp 908.77 0/1 99 86 52 34 0.4 intronic rs3757472 DDC AR NM_001242889 exon4 c.6941+114A>C 0.628395 0.5357 Uncertain 7_50544270_G->- 7 50544270 50544270 G - indel 943.73 0/1 99 66 40 26 0.39 intronic rs5884156 DDC AR NM_001242889 exon5 c.13393-51delG 0.734225 0.6161 0.765335 Uncertain 7_50544314_C->T 7 50544314 50544314 C T snp 975.77 0/1 99 97 55 42 0.43 intronic rs4490786 DDC AR NM_001242889 exon5 c.13393-7C>T 0.198283 0.1349 0.209519 0.2089 0.1499 Uncertain 7_50566762_C->T 7 50566762 50566762 C T snp 625.77 0/1 99 46 21 25 0.54 intronic rs2876829 DDC AR NM_001242890 exon3 c.6215-83C>T 0.721645 0.5575 Uncertain 7_50571779_G->A 7 50571779 50571779 G A snp 952.77 0/1 99 92 52 40 0.43 intronic rs11575375 DDC AR NM_001242890 exon4 c.11127+22G>A 0.324481 0.1062 0.364063 0.3334 0.1187 Uncertain 7_50596864_C->T 7 50596864 50596864 C T snp 467.77 0/1 99 42 22 20 0.48 intronic rs3735273 DDC AR NM_001242890 exon6 c.36275-41C>T 0.307508 0.3919 0.282793 0.2574 0.4078 Uncertain 7_50597056_G->A 7 50597056 50597056 G A snp 1460.77 0/1 99 143 77 66 0.46 intronic rs6950777 DDC AR NM_001242890 exon6 c.36410+16G>A 0.320088 0.3919 0.292711 0.2612 0.4069 Uncertain 7_50611735_T->C 7 50611735 50611735 T C snp 2944.77 1/1 99 105 0 105 1.0 exonic rs6264 DDC AR nonsynonymous SNV NM_000790 exon2 c.A49G p.M17V 0.993211 1 0.993311 0.9982 0.9999 0.53 T 0.000 P -0.977 T 0.0 T 0.0 T Pathogenic 7_50660787_G->A 7 50660787 50660787 G A snp 737.77 0/1 99 88 53 35 0.4 exonic rs3807550 GRB10 AU synonymous SNV NM_005311 exon16 c.C1647T p.D549D 0.0776757 0.0565 0.067158 0.1040 0.0840 Uncertain 7_50663280_TC->- 7 50663280 50663281 TC - indel 910.73 0/1 99 51 27 24 0.47 intronic rs67197412 GRB10 AU NM_005311 exon2 c.2579+53_2579+54delTC 0.0780751 0.0575 0.069052 0.1063 0.0862 Uncertain 7_50663299_-->AC 7 50663299 50663299 - AC indel 216.7 0/1 6 31 1 30 0.97 intronic rs59796106 GRB10 AU NM_005311 exon2 c.2579+72insAC Uncertain 7_50671481_C->G 7 50671481 50671481 C G snp 671.77 1/1 51 18 0 18 1.0 intronic rs7456867 GRB10 AU NM_005311 exon3 c.11046-213C>G 0.951877 1 Uncertain 7_50672907_T->C 7 50672907 50672907 T C snp 246.77 0/1 99 18 10 8 0.44 intronic rs4947709 GRB10 AU NM_005311 exon5 c.12338-79T>C 0.595048 0.4931 Uncertain 7_50673029_T->C 7 50673029 50673029 T C snp 1658.77 0/1 99 156 81 75 0.48 exonic rs4947710 GRB10 AU synonymous SNV NM_005311 exon12 c.A1347G p.A449A 0.874601 0.9415 0.883756 0.8800 0.9152 Uncertain 7_50685625_A->C 7 50685625 50685625 A C snp 1667.77 ./1 99 51 0 51 1.0 intronic rs2240498 GRB10 AU NM_005311 exon10 c.25119-142A>C 0.383786 0.0685 Uncertain 7_50685625_A->T 7 50685625 50685625 A T snp 1667.77 ./1 99 51 0 51 1.0 intronic rs2240498 GRB10 AU NM_005311 exon10 c.25119-142A>T 0.307109 0.4504 Uncertain 7_50694429_G->A 7 50694429 50694429 G A snp 55.77 0/1 84 7 4 3 0.43 intronic rs2074778 GRB10 AU NM_005311 exon12 c.33870-89G>A 0.403954 0.378 Uncertain 7_50694457_A->G 7 50694457 50694457 A G snp 945.77 1/1 72 26 0 26 1.0 intronic rs1468450 GRB10 AU NM_005311 exon12 c.33870-61A>G 0.65615 0.4444 Uncertain 7_50737384_C->T 7 50737384 50737384 C T snp 298.77 0/1 99 23 11 12 0.52 intronic rs2072235 GRB10 AU NM_005311 exon13 c.76770-34C>T 0.242412 0.5149 0.176788 0.2606 0.5041 Uncertain 7_50742118_A->G 7 50742118 50742118 A G snp 376.77 1/1 30 12 0 12 1.0 intronic rs2715128 GRB10 AU NM_005311 exon14 c.81484-14A>G 0.913339 0.9573 0.897420 0.8954 0.9731 Uncertain 7_50742180_C->T 7 50742180 50742180 C T snp 265.77 0/1 99 35 23 12 0.34 exonic rs1800504 GRB10 AU synonymous SNV NM_005311 exon3 c.G315A p.P105P 0.532548 0.4028 0.595977 0.5213 0.4200 Uncertain 7_50799889_C->T 7 50799889 50799889 C T snp 792.77 1/1 60 25 0 25 1.0 intronic rs2074777 GRB10 AU NM_005311 exon16 c.139320-79C>T 0.560304 0.756 Uncertain 7_50800169_T->C 7 50800169 50800169 T C snp 469.77 1/1 36 12 0 12 1.0 upstream rs2108350 GRB10 AU 0.934904 0.9633 Uncertain 7_51085127_-->T 7 51085127 51085127 - T indel 5032.73 1/1 99 129 0 129 1.0 UTR3 rs3214180 COBL AU 0.838858 0.7212 Uncertain 7_51093013_A->T 7 51093013 51093013 A T snp 873.77 1/1 63 33 1 32 0.97 exonic rs2240087 COBL AU synonymous SNV NM_015198 exon12 c.T3561A p.A1187A 0.888379 0.7242 0.943325 0.9145 0.7171 Uncertain 7_51096057_A->G 7 51096057 51096057 A G snp 3143.77 0/1 99 247 132 115 0.47 exonic rs758406466 COBL AU synonymous SNV NM_015198 exon10 c.T2736C p.D912D 8.238e-06 0.0001 Uncertain 7_51096974_C->T 7 51096974 51096974 C T snp 5872.77 1/1 99 201 0 201 1.0 exonic rs2240090 COBL AU nonsynonymous SNV NM_015198 exon10 c.G1819A p.V607I 0.608227 0.4643 0.679148 0.6270 0.4386 0.43 T 0.0 P -0.903 T 0.001 T 0.0 T Pathogenic 7_51097063_T->G 7 51097063 51097063 T G snp 4314.77 1/1 99 146 0 146 1.0 exonic rs10230120 COBL AU nonsynonymous SNV NM_015198 exon10 c.A1730C p.D577A 0.984026 0.999 0.969629 0.9656 0.9988 1 T 0.0 P -0.978 T 0.0 T 0.0 T Pathogenic 7_51150852_T->G 7 51150852 51150852 T G snp 59.77 0/1 88 106 87 19 0.18 exonic COBL AU synonymous SNV NM_001287436 exon8 c.A1170C p.P390P 1 D -0.352 T Likely benign 7_51153057_AAAGA->- 7 51153057 51153061 AAAGA - indel 1409.73 0/1 99 61 40 21 0.34 intronic COBL AU NM_001287438 exon2 c.11963+56_11963+60delAAAGA Uncertain 7_51204118_G->A 7 51204118 51204118 G A snp 643.77 0/1 99 41 15 26 0.63 intronic rs6949618 COBL AU NM_001287438 exon3 c.62990+90G>A 0.0914537 0.0645 Uncertain 7_51204163_T->C 7 51204163 51204163 T C snp 314.77 0/1 99 18 6 12 0.67 intronic rs77405937 COBL AU NM_001287438 exon3 c.62990+135T>C 0.033746 0.0645 Uncertain 7_51251973_A->T 7 51251973 51251973 A T snp 410.77 0/1 99 27 7 20 0.74 intronic rs76437960 COBL AU NM_001287438 exon4 c.110858+77A>T 0.0495208 0.0615 Uncertain 7_51258790_A->G 7 51258790 51258790 A G snp 673.77 0/1 99 46 15 31 0.67 intronic rs10271208 COBL AU NM_001287438 exon5 c.117737+15A>G 0.0914537 0.0615 0.042519 0.0449 0.0797 Uncertain 7_51287470_A->G 7 51287470 51287470 A G snp 2751.77 1/1 99 107 1 106 0.99 exonic rs801142 COBL AU synonymous SNV NM_001287436 exon2 c.T213C p.S71S 0.75639 0.7817 0.739582 0.7545 0.8405 Uncertain 7_51288090_C->T 7 51288090 51288090 C T snp 65.77 0/1 94 8 5 3 0.38 intronic rs75374424 COBL AU NM_001287438 exon7 c.146603+449C>T 0.048722 0.0615 Uncertain 7_53103371_G->T 7 53103371 53103371 G T snp 634.77 0/1 99 48 24 24 0.5 exonic rs72598684 POM121L12 AU nonsynonymous SNV NM_182595 exon1 c.G7T p.A3S 0.301318 0.4315 0.209688 0.4436 0.5578 0.15 T 0.0 P -0.938 T 0.985 D 0.785 D Pathogenic 7_53103382_G->T 7 53103382 53103382 G T snp 653.77 0/1 99 57 31 26 0.46 exonic rs72598685 POM121L12 AU synonymous SNV NM_182595 exon1 c.G18T p.P6P 0.302915 0.4325 0.209899 0.4286 0.5471 Uncertain 7_53103425_C->A 7 53103425 53103425 C A snp 1030.77 0/1 99 103 55 48 0.47 exonic rs10229800 POM121L12 AU nonsynonymous SNV NM_182595 exon1 c.C61A p.P21T 0.124401 0.0992 0.123869 0.1468 0.1219 0.94 T 0.0 P -0.991 T 0.311 T 0.022 T Pathogenic 7_53103673_C->A 7 53103673 53103673 C A snp 1419.77 0/1 99 112 53 59 0.53 exonic rs1184320 POM121L12 AU synonymous SNV NM_182595 exon1 c.C309A p.P103P 0.485823 0.5992 0.375990 0.4244 0.6194 Uncertain 7_53103794_C->T 7 53103794 53103794 C T snp 1346.77 0/1 99 98 41 57 0.58 exonic rs73357087 POM121L12 AU nonsynonymous SNV NM_182595 exon1 c.C430T p.P144S 0.14377 0.0982 0.151118 0.1359 0.1065 0.05 T 0.0 P -1.094 T 0.998 D 0.681 D Pathogenic 7_53104078_G->A 7 53104078 53104078 G A snp 2469.77 0/1 99 248 144 104 0.42 exonic rs72598686 POM121L12 AU synonymous SNV NM_182595 exon1 c.G714A p.P238P 0.33127 0.4315 0.253357 0.3115 0.4376 Uncertain 7_54610293_A->G 7 54610293 54610293 A G snp 336.77 0/1 99 20 9 11 0.55 UTR5 rs513529 VSTM2A AU 0.38738 0.3046 Uncertain 7_54610654_T->A 7 54610654 54610654 T A snp 643.77 0/1 99 54 26 28 0.52 intronic rs538207 VSTM2A AU NM_001301009 exon1 c.79+152T>A 0.227037 0.2986 Uncertain 7_54614582_G->T 7 54614582 54614582 G T snp 1467.77 0/1 99 144 80 64 0.44 intronic rs485006 VSTM2A AU NM_001301009 exon3 c.4216-57G>T 0.204673 0.2004 Uncertain 7_54614585_A->G 7 54614585 54614585 A G snp 1534.77 0/1 99 149 83 66 0.44 intronic rs657449 VSTM2A AU NM_001301009 exon3 c.4216-54A>G 0.422923 0.3234 Uncertain 7_54614698_-->G 7 54614698 54614698 - G indel 3659.73 0/1 99 245 121 124 0.51 intronic rs11432820 VSTM2A AU NM_001301009 exon3 c.4267+8insG 0.786240 0.7910 0.6851 Uncertain 7_54618010_C->T 7 54618010 54618010 C T snp 615.77 0/1 99 43 20 23 0.53 intronic rs2293343 VSTM2A AU NM_001301009 exon4 c.7440+147C>T 0.53095 0.5982 0.530442 0.5701 0.6354 Uncertain 7_54621526_T->C 7 54621526 54621526 T C snp 1303.77 0/1 99 97 49 48 0.49 intronic rs662136 VSTM2A AU NM_001301009 exon4 c.7440+3663T>C 0.645168 0.62 0.7075 0.6554 Uncertain 7_54820186_A->G 7 54820186 54820186 A G snp 125.78 0/1 25 5 1 4 0.8 intronic rs6952793 SEC61G AU NM_014302 exon1 c.10+73A>G 0.261182 0.1389 0.295954 Uncertain 7_54823678_C->- 7 54823678 54823678 C - indel 129.73 0/1 99 17 10 7 0.41 intronic rs3834332 SEC61G AU NM_014302 exon2 c.3471+104delC 0.176318 0.2212 Uncertain 7_54826830_G->C 7 54826830 54826830 G C snp 1904.77 0/1 99 197 108 89 0.45 intronic rs2699226 SEC61G AU NM_014302 exon4 c.6747-20G>C 0.34365 0.2748 0.302407 0.3123 0.2685 Uncertain 7_55002836_-->A 7 55002836 55002836 - A indel 568.73 0/1 99 43 23 20 0.47 intergenic rs145098818 LOC100996654 AU 0.550519 0.7183 Uncertain 7_55002841_T->G 7 55002841 55002841 T G snp 657.77 0/1 99 53 26 27 0.51 intergenic rs2330916 LOC100996654 AU 0.550519 0.7183 Uncertain 7_55004546_C->T 7 55004546 55004546 C T snp 1021.77 0/1 99 92 50 42 0.46 intergenic rs2005868 LOC100996654 AU 0.309704 0.6458 Uncertain 7_55086780_A->C 7 55086780 55086780 A C snp 101.28 1/1 9 4 0 4 1.0 UTR5 rs712830 EGFR AR 0.929712 0.998 Uncertain 7_55214348_C->T 7 55214348 55214348 C T snp 2339.77 0/1 99 199 100 99 0.5 exonic rs2072454 EGFR AR synonymous SNV NM_005228 exon4 c.C474T p.N158N 0.475439 0.3522 0.515147 0.5090 0.3742 1.000 P ID=COSM42978;OCCURENCE=2(large_intestine),1(central_nervous_system) Uncertain 7_55214443_G->A 7 55214443 55214443 G A snp 2754.77 0/1 99 208 93 115 0.55 intronic rs7801956 EGFR AR NM_005228 exon4 c.127463+10G>A 0.0553115 0.0466 0.067892 0.0768 0.0659 Uncertain 7_55218903_T->C 7 55218903 55218903 T C snp 617.77 0/1 99 87 59 28 0.32 intronic rs2075109 EGFR AR NM_005228 exon5 c.132016-83T>C 0.503594 0.3522 Uncertain 7_55219159_C->T 7 55219159 55219159 C T snp 46.78 0/1 27 3 1 2 0.67 intronic rs2075110 EGFR AR NM_005228 exon5 c.132085+104C>T 0.519569 0.3522 Uncertain 7_55220177_A->G 7 55220177 55220177 A G snp 2209.77 0/1 99 177 87 90 0.51 intronic rs11506105 EGFR AR NM_005228 exon6 c.133268-61A>G 0.550919 0.3502 Uncertain 7_55221655_G->A 7 55221655 55221655 G A snp 1832.77 0/1 99 95 36 59 0.62 intronic rs4947986 EGFR AR NM_005228 exon7 c.134733-48G>A 0.320687 0.6498 0.217438 0.3022 0.6317 Uncertain 7_55225170_G->C 7 55225170 55225170 G C snp 345.78 1/1 27 9 0 9 1.0 intronic rs4947987 EGFR AR NM_005228 exon11 c.138385-185G>C 0.91254 1 Uncertain 7_55228053_A->T 7 55228053 55228053 A T snp 1155.77 1/1 84 33 0 33 1.0 intronic rs1558544 EGFR AR NM_005228 exon12 c.141061+22A>T 0.773363 0.997 0.663433 0.7697 0.9974 Uncertain 7_55229255_G->A 7 55229255 55229255 G A snp 4853.77 1/1 99 179 1 178 0.99 exonic rs2227983 EGFR AR nonsynonymous SNV NM_005228 exon13 c.G1562A p.R521K 0.292133 0.5238 0.202676 0.2870 0.5359 0.69 T 0.0 P -0.907 T 0.0 T 0.001 T CLINSIG=untested;CLNDBN=not_specified;CLNREVSTAT=no_assertion_provided;CLNACC=RCV000120690.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 ID=COSM3721608;OCCURENCE=1(large_intestine),1(upper_aerodigestive_tract),1(thyroid) ID=CM942312;DIS=Altered transmembrane signaling;TAG=DFP;PUB=7937865 DFP Pathogenic 7_55233863_A->C 7 55233863 55233863 A C snp 399.77 1/1 30 13 0 13 1.0 intronic rs9649769 EGFR AR NM_005228 exon15 c.146160+733A>C 0.314696 0.5645 Uncertain 7_55238268_G->A 7 55238268 55238268 G A snp 881.77 1/1 66 29 0 29 1.0 intronic rs10228436 EGFR AR NM_201284 exon16 c.151029+269G>A 0.376198 0.5357 0.305090 0.3670 0.5421 Uncertain 7_55238874_T->A 7 55238874 55238874 T A snp 3587.77 1/1 99 127 0 127 1.0 exonic rs2227984 EGFR AR synonymous SNV NM_005228 exon16 c.T1887A p.T629T 0.390375 0.5347 0.322467 0.3740 0.5412 ID=COSM3762772;OCCURENCE=1(large_intestine) Uncertain 7_55240461_G->C 7 55240461 55240461 G C snp 1417.77 0/1 99 119 59 60 0.5 intronic rs2241055 EGFR AR NM_005228 exon17 c.153705-214G>C 0.355232 0.5347 Uncertain 7_55241727_G->A 7 55241727 55241727 G A snp 778.77 0/1 99 86 49 37 0.43 exonic rs55959834 EGFR AR synonymous SNV NM_005228 exon18 c.G2175A p.T725T 0.00119808 0.005 0.000077 0.0003 0.0038 ID=COSM29444;OCCURENCE=1(upper_aerodigestive_tract) Uncertain 7_55242609_A->G 7 55242609 55242609 A G snp 549.77 0/1 99 27 10 17 0.63 intronic rs2017000 EGFR AR NM_005228 exon19 c.155543+96A>G 0.329473 0.6181 Uncertain 7_55260619_C->T 7 55260619 55260619 C T snp 577.77 0/1 99 66 45 21 0.32 intronic rs570780155 EGFR AR NM_005228 exon22 c.173564+85C>T 0.000998403 0.004 Uncertain 7_55266417_T->C 7 55266417 55266417 T C snp 6348.77 1/1 99 232 0 232 1.0 exonic rs1140475 EGFR AR synonymous SNV NM_005228 exon23 c.T2709C p.T903T 0.916733 0.9196 0.889051 0.8957 0.9266 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000038451.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 7_55272826_G->A 7 55272826 55272826 G A snp 252.8 1/1 21 7 0 7 1.0 intronic rs2692456 EGFR AR NM_005228 exon28 c.185978-122G>A 0.879792 0.8988 Uncertain 7_55459563_A->G 7 55459563 55459563 A G snp 3233.06 1/1 99 129 1 128 0.99 exonic rs2049497 LANCL2 AU synonymous SNV NM_018697 exon2 c.A282G p.T94T 0.407348 0.5694 0.343918 0.3864 0.5662 Uncertain 7_55468773_C->A 7 55468773 55468773 C A snp 1020.77 1/1 75 29 0 29 1.0 intronic rs815929 LANCL2 AU NM_018697 exon5 c.35148-93C>A 0.863818 0.8006 Uncertain 7_55495987_T->C 7 55495987 55495987 T C snp 2287.77 1/1 99 79 0 79 1.0 intronic rs2272227 LANCL2 AU NM_018697 exon8 c.62349-80T>C 0.398562 0.5337 Uncertain 7_55498755_G->A 7 55498755 55498755 G A snp 665.77 1/1 51 18 0 18 1.0 intronic rs2293322 LANCL2 AU NM_018697 exon9 c.65200-163G>A 0.347244 0.5337 Uncertain 7_55499058_A->G 7 55499058 55499058 A G snp 1976.77 1/1 99 71 0 71 1.0 UTR3 rs815988 LANCL2 AU 0.96905 1 0.948178 0.9441 0.9999 Uncertain 7_55540791_G->C 7 55540791 55540791 G C snp 1115.77 0/1 99 124 72 52 0.42 intronic rs712819 VOPP1 AU NM_001284283 exon1 c.191+53G>C 0.84984 0.7292 Uncertain 7_55540886_C->T 7 55540886 55540886 C T snp 177.77 0/1 99 15 9 6 0.4 intronic rs10273190 VOPP1 AU NM_001284283 exon1 c.191+148C>T 0.240615 0.1607 Uncertain 7_55565248_GGG->- 7 55565248 55565250 GGG - indel 988.73 0/1 99 45 14 31 0.69 intronic rs139072999 VOPP1 AU NM_001284283 exon3 c.24758-57_24758-55delGGG 0.901757 0.7857 Uncertain 7_55605063_G->T 7 55605063 55605063 G T snp 1820.77 0/1 99 188 112 76 0.4 intronic rs73139624 VOPP1 AU NM_001284284 exon5 c.64646-130G>T 0.136781 0.2758 Uncertain 7_55620398_C->A 7 55620398 55620398 C A snp 872.77 0/1 99 70 33 37 0.53 UTR5 rs73141718 VOPP1 AU 0.137181 0.2778 0.1264 0.2344 Uncertain 7_55750390_A->G 7 55750390 55750390 A G snp 2065.77 0/1 99 249 146 103 0.41 ncRNA_exonic rs11238374 FKBP9P1 AU 0.750599 0.7738 0.6910 0.7643 Uncertain 7_55774975_G->T 7 55774975 55774975 G T snp 1802.77 0/1 99 194 107 87 0.45 intergenic rs113281844 FKBP9P1 AU 0.140575 0.1756 Uncertain 7_55778990_T->C 7 55778990 55778990 T C snp 107.77 0/1 99 74 61 13 0.18 intergenic FKBP9P1 AU Uncertain 7_55779180_C->A 7 55779180 55779180 C A snp 41.77 0/1 70 129 118 11 0.09 intergenic FKBP9P1 AU Uncertain 7_55779220_A->G 7 55779220 55779220 A G snp 751.77 0/1 99 69 31 38 0.55 intergenic rs12536949 FKBP9P1 AU 0.606829 0.8155 Uncertain 7_55780176_T->C 7 55780176 55780176 T C snp 1439.77 0/1 99 127 66 61 0.48 intergenic rs10267547 FKBP9P1 AU 0.60603 0.8155 Uncertain 7_55780278_G->C 7 55780278 55780278 G C snp 1628.77 0/1 99 182 108 74 0.41 intergenic rs75920546 FKBP9P1 AU 0.0752796 0.1756 Uncertain 7_55780845_T->C 7 55780845 55780845 T C snp 1432.77 0/1 99 166 91 75 0.45 intergenic rs2953555 FKBP9P1 AU 0.606829 0.8194 Uncertain 7_55886794_C->A 7 55886794 55886794 C A snp 429.77 0/1 99 53 33 20 0.38 intronic rs73701152 SEPT14 AU NM_207366 exon4 c.23214-25C>A 0.0928514 0.1845 0.047395 0.0769 0.3 Uncertain 7_55990944_C->T 7 55990944 55990944 C T snp 1157.77 0/1 99 99 46 53 0.54 exonic rs147455939 ZNF713 AU synonymous SNV NM_182633 exon5 c.C177T p.D59D 0.000798722 0.004 0.000154 9.11e-05 0.0003 Uncertain 7_55991292_G->A 7 55991292 55991292 G A snp 478.77 0/1 99 33 14 19 0.58 intronic rs2174460 ZNF713 AU NM_182633 exon6 c.10970-7G>A 0.862021 0.9454 0.818545 0.8081 0.9463 Uncertain 7_56022981_T->C 7 56022981 56022981 T C snp 144.77 0/1 99 15 9 6 0.4 UTR3 rs15892 MRPS17 AU 0.85603 0.9266 Uncertain 7_56047612_G->A 7 56047612 56047612 G A snp 1702.77 0/1 99 103 40 63 0.61 intronic rs71543773 GBAS AU NM_001483 exon3 c.13786+1524G>A 0.0776757 0.2192 0.0676 0.205 Uncertain 7_56049019_A->G 7 56049019 56049019 A G snp 152.77 0/1 99 10 5 5 0.5 intronic rs2304376 GBAS AU NM_001483 exon4 c.16863-146A>G 0.145767 0.0685 Uncertain 7_56059591_G->C 7 56059591 56059591 G C snp 3179.76 1/1 99 133 0 133 1.0 intronic rs10435504 GBAS AU NM_001483 exon8 c.30284-2995G>C 0.660543 0.6964 Uncertain 7_56062433_TT->- 7 56062433 56062434 TT - indel 216.73 0/1 99 12 6 6 0.5 intronic rs398004850 GBAS AU NM_001483 exon8 c.30284-153_30284-152delTT 0.076877 0.2163 Uncertain 7_56087206_A->T 7 56087206 56087206 A T snp 70.77 0/1 99 22 17 5 0.23 intronic rs75045388 PSPH AR NM_004577 exon4 c.7838-86A>T Uncertain 7_56087215_G->C 7 56087215 56087215 G C snp 105.77 0/1 99 26 20 6 0.23 intronic PSPH AR NM_004577 exon4 c.7838-77G>C Uncertain 7_56087219_A->C 7 56087219 56087219 A C snp 139.77 0/1 99 27 21 6 0.22 intronic PSPH AR NM_004577 exon4 c.7838-73A>C Uncertain 7_56087232_T->C 7 56087232 56087232 T C snp 113.77 0/1 99 48 41 7 0.15 intronic PSPH AR NM_004577 exon4 c.7838-60T>C Uncertain 7_56087233_G->A 7 56087233 56087233 G A snp 148.77 0/1 99 49 42 7 0.14 intronic PSPH AR NM_004577 exon4 c.7838-59G>A Uncertain 7_56087240_T->C 7 56087240 56087240 T C snp 113.77 0/1 99 54 46 8 0.15 intronic PSPH AR NM_004577 exon4 c.7838-52T>C Uncertain 7_56087241_G->A 7 56087241 56087241 G A snp 146.77 0/1 99 55 47 8 0.15 intronic PSPH AR NM_004577 exon4 c.7838-51G>A Uncertain 7_56087278_C->A 7 56087278 56087278 C A snp 295.77 0/1 99 102 83 19 0.19 intronic rs199535022 PSPH AR NM_004577 exon4 c.7838-14C>A 0.0044 0.0033 Uncertain 7_56087280_G->C 7 56087280 56087280 G C snp 290.77 0/1 99 106 87 19 0.18 intronic rs200789478 PSPH AR NM_004577 exon4 c.7838-12G>C 0.0045 0.0033 Uncertain 7_56087283_T->C 7 56087283 56087283 T C snp 304.77 0/1 99 107 87 20 0.19 intronic rs201406771 PSPH AR NM_004577 exon4 c.7838-9T>C 0.0050 0.0045 Uncertain 7_56087300_C->T 7 56087300 56087300 C T snp 392.77 0/1 99 122 98 24 0.2 exonic rs75395437 PSPH AR nonsynonymous SNV NM_004577 exon5 c.G268A p.G90S 0.000199681 0.0051 0.0046 0.01 T 1 D 0.691 D 0.999 D 0.896 D Pathogenic 7_56087319_T->G 7 56087319 56087319 T G snp 456.77 0/1 99 147 116 31 0.21 exonic rs73343757 PSPH AR nonsynonymous SNV NM_004577 exon5 c.A249C p.Q83H 0.0085 0.0076 1 T 0.993 N -0.825 T 0.0 T 0.0 T Pathogenic 7_56087364_G->T 7 56087364 56087364 G T snp 509.77 0/1 99 157 128 29 0.18 exonic rs201644817 PSPH AR synonymous SNV NM_004577 exon5 c.C204A p.L68L 0.0576 0.1509 Uncertain 7_56087365_A->G 7 56087365 56087365 A G snp 510.77 0/1 99 157 126 31 0.2 exonic rs78067484 PSPH AR nonsynonymous SNV NM_004577 exon5 c.T203C p.L68P 0.0587 0.1564 0.01 T 1 D 0.684 D 0.697 T 0.575 P Pathogenic 7_56087374_C->T 7 56087374 56087374 C T snp 534.77 0/1 99 157 127 30 0.19 exonic rs200442078 PSPH AR nonsynonymous SNV NM_004577 exon5 c.G194A p.R65H 0.0590 0.1533 0 D 1 D 1.014 D 0.999 D 0.981 D Pathogenic 7_56087379_T->C 7 56087379 56087379 T C snp 560.77 0/1 99 144 115 29 0.2 exonic rs201935398 PSPH AR synonymous SNV NM_004577 exon5 c.A189G p.T63T 0.0593 0.1589 ID=COSM1623000;OCCURENCE=1(liver) Uncertain 7_56087399_G->A 7 56087399 56087399 G A snp 457.77 0/1 99 125 99 26 0.21 exonic rs79321413 PSPH AR nonsynonymous SNV NM_004577 exon5 c.C169T p.P57S 0.1205 0.2794 0.29 T 0.775 D -0.707 T 0.001 T 0.003 T Pathogenic 7_56087409_G->A 7 56087409 56087409 G A snp 429.77 0/1 99 112 89 23 0.21 exonic rs74874687 PSPH AR synonymous SNV NM_004577 exon5 c.C159T p.G53G 0.000199681 0.1218 0.2808 Uncertain 7_56087423_G->A 7 56087423 56087423 G A snp 301.77 0/1 99 95 77 18 0.19 exonic rs79451216 PSPH AR nonsynonymous SNV NM_004577 exon5 c.C145T p.R49W 0.000199681 0.1470 0.3234 0 D 1 D -0.082 T 0.121 T 0.035 T Pathogenic 7_56087465_G->A 7 56087465 56087465 G A snp 151.77 0/1 99 51 42 9 0.18 intronic rs77534057 PSPH AR NM_004577 exon4 c.7973+38G>A 0.1973 0.3759 Uncertain 7_56087474_A->G 7 56087474 56087474 A G snp 130.77 0/1 99 45 37 8 0.18 intronic rs77874436 PSPH AR NM_004577 exon4 c.7973+47A>G 0.2018 0.3833 Uncertain 7_56088726_G->T 7 56088726 56088726 G T snp 403.77 0/1 99 250 221 29 0.12 intronic rs74698718 PSPH AR NM_004577 exon5 c.9311-39G>T 0.0006 0.0006 Uncertain 7_56088786_A->T 7 56088786 56088786 A T snp 1182.77 0/1 99 249 194 55 0.22 exonic rs202027697 PSPH AR synonymous SNV NM_004577 exon4 c.T120A p.V40V 0.2021 0.3728 Uncertain 7_56088789_G->A 7 56088789 56088789 G A snp 1140.77 0/1 99 249 194 55 0.22 exonic rs199851385 PSPH AR synonymous SNV NM_004577 exon4 c.C117T p.G39G 0.2028 0.3717 Uncertain 7_56088811_T->C 7 56088811 56088811 T C snp 1120.77 0/1 99 250 188 62 0.25 exonic rs78599516 PSPH AR nonsynonymous SNV NM_004577 exon4 c.A95G p.D32G 0.106105 0.1743 0.3319 0 D 1 D -1.333 T 0.92 T 0.938 D Pathogenic 7_56088825_T->A 7 56088825 56088825 T A snp 1352.77 0/1 99 245 177 68 0.28 exonic rs74445297 PSPH AR nonsynonymous SNV NM_004577 exon4 c.A81T p.R27S 0.1837 0.3423 0.32 T 1.000 D -0.940 T 0.001 T 0.01 T Pathogenic 7_56088902_C->T 7 56088902 56088902 C T snp 1042.77 0/1 99 134 91 43 0.32 exonic rs77329757 PSPH AR nonsynonymous SNV NM_004577 exon4 c.G4A p.V2I 0.0496 0.1075 0.33 T 0.982 N -0.677 T 0.004 T 0.004 T Pathogenic 7_56088907_G->C 7 56088907 56088907 G C snp 1051.77 0/1 99 114 73 41 0.36 UTR5 rs201445503 PSPH AR 0.0466 0.0995 Uncertain 7_56088908_C->T 7 56088908 56088908 C T snp 1114.77 0/1 99 111 72 39 0.35 UTR5 rs201958642 PSPH AR 0.0458 0.0952 Uncertain 7_56088928_C->T 7 56088928 56088928 C T snp 786.77 0/1 99 64 38 26 0.41 splicing rs200942360 PSPH AR NM_004577 exon5 c.9470+4C>T 0.0411 0.0906 Pathogenic 7_56088931_-->A 7 56088931 56088931 - A indel 434.73 0/1 99 58 25 33 0.57 intronic rs368626187 PSPH AR NM_004577 exon5 c.9470+7insA 0.0236 0.0443 Uncertain 7_56088951_A->- 7 56088951 56088951 A - indel 333.73 0/1 99 25 11 14 0.56 intronic rs371478233 PSPH AR NM_004577 exon5 c.9470+27delA 0.092276 0.0031 0.0040 Uncertain 7_56088952_A->T 7 56088952 56088952 A T snp 369.77 0/1 99 22 11 11 0.5 intronic rs201744395 PSPH AR NM_004577 exon5 c.9470+28A>T 0.0033 0.0045 Uncertain 7_56119730_T->A 7 56119730 56119730 T A snp 3201.82 1/1 99 126 0 126 1.0 intronic rs3735665 CCT6A AU NM_001762 exon1 c.137+52T>A 0.641773 0.7103 0.755458 0.6395 0.6735 Uncertain 7_56122058_A->T 7 56122058 56122058 A T snp 256.8 1/1 21 7 0 7 1.0 splicing rs6593297 CCT6A AU NM_001762 exon3 c.2520-3A>T 0.642372 0.7103 0.662848 0.6837 0.7094 Pathogenic 7_56126360_T->C 7 56126360 56126360 T C snp 4819.77 1/1 99 181 1 180 0.99 exonic rs2230197 CCT6A AU synonymous SNV NM_001009186 exon7 c.T798C p.V266V 0.642173 0.7103 0.666615 0.6838 0.7094 Uncertain 7_56131910_C->G 7 56131910 56131910 C G snp 248.77 0/1 99 26 16 10 0.38 upstream;downstream rs62457279 SUMF2;CCT6A UN 0.152356 0.0724 0.158677 0.2463 0.0761 Uncertain 7_56136194_C->T 7 56136194 56136194 C T snp 780.77 0/1 99 117 78 39 0.33 exonic rs7808729 SUMF2 AU synonymous SNV NM_001042469 exon2 c.C144T p.S48S 0.152356 0.0724 0.176611 0.2014 0.0540 Uncertain 7_56136260_C->A 7 56136260 56136260 C A snp 3393.77 1/1 99 137 1 136 0.99 exonic rs4245575 SUMF2 AU nonsynonymous SNV NM_001042469 exon2 c.C210A p.D70E 0.998802 1 0.998616 0.9989 1 1 T 1.000 P -0.952 T 0.058 T 0.016 T Pathogenic 7_56140548_T->C 7 56140548 56140548 T C snp 423.77 0/1 99 25 11 14 0.56 intronic rs76519777 SUMF2 AU NM_001130069 exon3 c.8742-141T>C 0.0816693 0.1954 Uncertain 7_56140618_T->G 7 56140618 56140618 T G snp 1536.77 0/1 99 124 63 61 0.49 intronic rs13238899 SUMF2 AU NM_001130069 exon3 c.8742-71T>G 0.125 0.2282 Uncertain 7_56141888_G->A 7 56141888 56141888 G A snp 1518.77 0/1 99 99 34 65 0.66 exonic rs201836565 SUMF2 AU nonsynonymous SNV NM_001146333 exon3 c.G97A p.V33M 0.000798722 0.004 2.471e-05 0.0003 0.04 T 1.000 D 0.878 D 0.998 D 0.893 D Pathogenic 7_56142519_A->G 7 56142519 56142519 A G snp 1871.77 1/1 99 61 0 61 1.0 intronic rs4948104 SUMF2 AU NM_001130069 exon5 c.10482+90A>G 0.641773 0.7103 Uncertain 7_56144656_C->T 7 56144656 56144656 C T snp 997.77 0/1 99 59 23 36 0.61 intronic rs62457286 SUMF2 AU NM_001130069 exon6 c.12635+74C>T 0.0832668 0.0615 0.081472 Uncertain 7_56146004_G->A 7 56146004 56146004 G A snp 990.77 0/1 99 80 38 42 0.53 intronic rs3735066 SUMF2 AU NM_001146333 exon7 c.5327-52G>A 0.0828674 0.1954 Uncertain 7_56146310_T->C 7 56146310 56146310 T C snp 554.77 0/1 99 27 6 21 0.78 intronic rs11765364 SUMF2 AU NM_001146333 exon7 c.5472+109T>C 0.150958 0.0714 Uncertain 7_56146737_G->A 7 56146737 56146737 G A snp 220.77 0/1 99 31 20 11 0.35 intronic rs13226699 SUMF2 AU NM_001130069 exon8 c.15273-483G>A 0.116214 0.2292 0.2312 0.2973 Uncertain 7_56149125_C->T 7 56149125 56149125 C T snp 48.74 1/1 6 2 0 2 1.0 intronic rs35046650 PHKG1 AU NM_006213 exon1 c.246+133C>T 0.116014 0.2292 Uncertain 7_56149362_C->T 7 56149362 56149362 C T snp 684.77 0/1 99 42 16 26 0.62 exonic rs11238393 PHKG1 AU synonymous SNV NM_001258460 exon9 c.G852A p.V284V 0.149561 0.0714 0.174612 0.2008 0.0540 Uncertain 7_56149410_G->A 7 56149410 56149410 G A snp 839.77 0/1 99 70 35 35 0.5 exonic rs12538444 PHKG1 AU synonymous SNV NM_001258460 exon9 c.C804T p.Y268Y 0.149561 0.0714 0.174689 0.2010 0.0541 Uncertain 7_56149475_-->GCAGGT 7 56149475 56149475 - GCAGGT indel 3953.73 0/1 99 130 74 56 0.43 intronic rs199775883 PHKG1 AU NM_006213 exon2 c.702+27insGCAGGT 0.028435 8.71e-06 0 Uncertain 7_56149476_A->C 7 56149476 56149476 A C snp 1328.77 0/1 99 131 77 54 0.41 intronic PHKG1 AU NM_006213 exon2 c.702+28A>C Uncertain 7_56149477_A->C 7 56149477 56149477 A C snp 1352.77 0/1 99 133 78 55 0.41 intronic rs199778139 PHKG1 AU NM_006213 exon2 c.702+29A>C 0.0403 0.1636 Uncertain 7_56149939_G->A 7 56149939 56149939 G A snp 700.77 0/1 99 82 51 31 0.38 exonic rs13238521 PHKG1 AU synonymous SNV NM_001258460 exon7 c.C528T p.C176C 0.112021 0.2282 0.056820 0.0927 0.2685 Uncertain 7_56151533_A->G 7 56151533 56151533 A G snp 1100.77 0/1 99 83 39 44 0.53 intronic rs62457291 PHKG1 AU NM_006213 exon6 c.2662+125A>G 0.15016 0.0724 Uncertain 7_56151816_C->G 7 56151816 56151816 C G snp 754.77 0/1 99 49 23 26 0.53 intronic rs2242510 PHKG1 AU NM_001258459 exon7 c.3095-25C>G 0.0704872 0.1954 0.0661 0.1406 Uncertain 7_56155219_C->T 7 56155219 56155219 C T snp 1309.77 1/1 99 37 0 37 1.0 intronic rs6945795 PHKG1 AU NM_006213 exon8 c.6544-71C>T 0.475839 0.6627 Uncertain 7_56174115_A->C 7 56174115 56174115 A C snp 2139.77 0/1 99 168 75 93 0.55 UTR5 rs10043 CHCHD2 AU 0.85024 0.9286 0.825285 0.8016 0.9465 Uncertain 7_56174140_G->T 7 56174140 56174140 G T snp 2411.77 0/1 99 195 91 104 0.53 UTR5 rs816407 CHCHD2 AU 0.85004 0.9286 0.825773 0.8017 0.9464 Uncertain 7_56879376_T->A 7 56879376 56879376 T A snp 36.77 0/1 36 4 2 2 0.5 ncRNA_exonic LOC401357 AU 0.072484 0.2054 Uncertain 7_56879403_T->C 7 56879403 56879403 T C snp 41.77 0/1 70 7 4 3 0.43 ncRNA_exonic LOC401357 AU 0.492812 0.4891 Uncertain 7_56879552_T->C 7 56879552 56879552 T C snp 167.77 0/1 99 31 21 10 0.32 ncRNA_exonic LOC401357 AU 0.459864 0.4841 0.3188 0.5625 Uncertain 7_57069640_C->T 7 57069640 57069640 C T snp 56.74 1/1 6 2 0 2 1.0 intergenic MIR4283-2 AU 0.0940495 0.2917 Uncertain 7_57069669_T->C 7 57069669 57069669 T C snp 35.77 0/1 64 8 5 3 0.38 intergenic MIR4283-2 AU 0.793131 0.7014 Uncertain 7_57071671_T->C 7 57071671 57071671 T C snp 69.77 0/1 98 13 10 3 0.23 intergenic MIR4283-2 AU Uncertain 7_57071725_C->T 7 57071725 57071725 C T snp 69.77 0/1 98 13 10 3 0.23 intergenic MIR4283-2 AU Uncertain 7_57071775_C->A 7 57071775 57071775 C A snp 113.77 0/1 99 9 3 6 0.67 intergenic MIR4283-2 AU Uncertain 7_57071804_C->T 7 57071804 57071804 C T snp 48.74 1/1 6 3 0 3 1.0 intergenic MIR4283-2 AU Uncertain 7_57076653_T->C 7 57076653 57076653 T C snp 838.77 1/1 63 31 0 31 1.0 intergenic MIR4283-2 AU 0.608826 0.6915 Uncertain 7_57076838_T->C 7 57076838 57076838 T C snp 88.28 1/1 9 3 0 3 1.0 intergenic MIR4283-2 AU Uncertain 7_57188016_A->G 7 57188016 57188016 A G snp 818.77 0/1 99 77 41 36 0.47 exonic ZNF479 AU nonsynonymous SNV NM_033273 exon5 c.T1106C p.M369T 0.321685 0.5427 0.264199 0.3383 0.5401 1 T 0.0 P -0.923 T 0.0 T 0.0 T Pathogenic 7_57188526_T->C 7 57188526 57188526 T C snp 141.77 0/1 99 11 6 5 0.45 exonic ZNF479 AU nonsynonymous SNV NM_033273 exon5 c.A596G p.H199R 0.321286 0.5417 0.3790 0.5645 0.15 T 0.0 P -0.967 T 0.004 T 0.003 T Pathogenic 7_57188718_T->C 7 57188718 57188718 T C snp 3465.77 0/1 99 248 111 137 0.55 exonic ZNF479 AU nonsynonymous SNV NM_033273 exon5 c.A404G p.Y135C 0.327676 0.5427 0.275451 0.3388 0.5390 1 T 0.0 P -0.953 T 0.0 T 0.0 T Pathogenic 7_57194309_C->G 7 57194309 57194309 C G snp 131.77 0/1 99 176 134 42 0.24 exonic rs80009403 ZNF479 AU synonymous SNV NM_033273 exon3 c.G156C p.L52L 0.0828 0.1699 Uncertain 7_57245247_A->G 7 57245247 57245247 A G snp 4237.77 1/1 99 160 0 160 1.0 ncRNA_intronic rs11763159 GUSBP10 AU 0.6223 0.8563 Uncertain 7_57246174_G->C 7 57246174 57246174 G C snp 336.77 0/1 99 22 10 12 0.55 ncRNA_intronic rs10282242 GUSBP10 AU 0.360024 0.3373 Uncertain 7_57509817_A->G 7 57509817 57509817 A G snp 222.77 0/1 99 12 5 7 0.58 upstream ZNF716 AU 0.0872604 0.2421 Uncertain 7_57509872_G->T 7 57509872 57509872 G T snp 471.77 0/1 99 53 32 21 0.4 upstream ZNF716 AU 0.0872604 0.2421 Uncertain 7_57509966_C->A 7 57509966 57509966 C A snp 762.77 0/1 99 87 51 36 0.41 UTR5 ZNF716 AU 0.0872604 0.2421 0.025843 0.0329 0.2417 Uncertain 7_57510055_GT->- 7 57510055 57510056 GT - indel 616.73 0/1 99 41 23 18 0.44 intronic rs140649487 ZNF716 AU NM_001159279 exon1 c.39+22_39+23delGT 0.0872604 0.2421 0.027970 0.0326 0.2370 Uncertain 7_57528997_T->C 7 57528997 57528997 T C snp 2011.77 1/1 99 68 0 68 1.0 exonic ZNF716 AU nonsynonymous SNV NM_001159279 exon4 c.T830C p.V277A 0.421126 0.5397 0.379106 0.4230 0.5314 1 T 0.000 P -0.947 T 0.0 T 0.0 T Pathogenic 7_57529392_A->C 7 57529392 57529392 A C snp 1714.77 1/1 99 59 0 59 1.0 exonic ZNF716 AU nonsynonymous SNV NM_001159279 exon4 c.A1225C p.K409Q 0.421126 0.5397 0.378887 0.4139 0.5210 0.09 T 0.000 P -0.937 T 0.407 T 0.119 T Pathogenic 7_62910311_T->C 7 62910311 62910311 T C snp 562.77 0/1 99 179 141 38 0.21 intergenic rs111446724 LOC100287834 AU 0.263379 0.6012 Uncertain 7_62910313_G->C 7 62910313 62910313 G C snp 566.77 0/1 99 177 140 37 0.21 intergenic rs145724107 LOC100287834 AU 0.258387 0.6012 Uncertain 7_63033298_-->GCT 7 63033298 63033298 - GCT indel 625.92 0/1 5 17 1 16 0.94 intergenic rs373581853 LOC100287834 AU 0.298522 0.2966 Uncertain 7_63506245_C->G 7 63506245 63506245 C G snp 143.77 0/1 99 15 10 5 0.33 intronic rs117535826 ZNF727 AU NM_001159522 exon1 c.3+243C>G 0.0780751 0.2579 Uncertain 7_63529451_T->- 7 63529451 63529451 T - indel 285.73 0/1 99 29 7 22 0.76 intronic rs35929359 ZNF727 AU NM_001159522 exon2 c.23396+56delT Uncertain 7_63529956_G->A 7 63529956 63529956 G A snp 2101.77 1/1 99 82 0 82 1.0 exonic rs4349869 ZNF727 AU synonymous SNV NM_001159522 exon3 c.G195A p.A65A 0.562101 0.4315 0.627464 0.6582 0.5078 Uncertain 7_63537639_T->- 7 63537639 63537639 T - indel 578.73 1/1 71 25 0 25 1.0 intronic rs34875861 ZNF727 AU NM_001159522 exon4 c.31654-14delT 0.6335 0.6413 Uncertain 7_63537720_T->C 7 63537720 63537720 T C snp 1972.77 0/1 99 140 68 72 0.51 exonic rs372370348 ZNF727 AU nonsynonymous SNV NM_001159522 exon4 c.T293C p.V98A 0.00479233 0.0238 0.0007 0.0226 1 N -0.991 T 0.634 T 0.206 P Pathogenic 7_63537849_G->A 7 63537849 63537849 G A snp 7454.77 1/1 99 249 0 249 1.0 exonic rs4717170 ZNF727 AU nonsynonymous SNV NM_001159522 exon4 c.G422A p.R141H 0.628395 0.6091 0.641700 0.6430 0.5963 0.0 P -0.937 T 0.001 T 0.001 T Pathogenic 7_63673608_C->T 7 63673608 63673608 C T snp 4576.77 1/1 99 182 0 182 1.0 intronic rs10252019 ZNF735 AU NM_001159524 exon2 c.6016+12C>T 0.766174 0.9018 0.711564 0.6966 0.8848 Uncertain 7_63673691_A->G 7 63673691 63673691 A G snp 2546.77 1/1 99 82 0 82 1.0 intronic rs13233809 ZNF735 AU NM_001159524 exon2 c.6016+95A>G 0.367812 0.3393 Uncertain 7_63674540_G->C 7 63674540 63674540 G C snp 1730.77 1/1 99 68 0 68 1.0 intronic rs4718036 ZNF735 AU NM_001159524 exon3 c.6906+54G>C 0.314297 0.3393 Uncertain 7_63679733_A->G 7 63679733 63679733 A G snp 3213.77 1/1 99 117 0 117 1.0 exonic rs10270226 ZNF735 AU nonsynonymous SNV NM_001159524 exon4 c.A304G p.S102G 0.672724 0.7798 0.6404 0.7606 Pathogenic 7_63680133_T->A 7 63680133 63680133 T A snp 1408.77 0/1 99 102 44 58 0.57 exonic rs117101774 ZNF735 AU nonsynonymous SNV NM_001159524 exon4 c.T704A p.L235H 0.076877 0.2312 0.008103 0.0544 0.2808 Pathogenic 7_63720786_T->A 7 63720786 63720786 T A snp 86.77 0/1 99 15 11 4 0.27 intronic rs199528622 ZNF679 AU NM_153363 exon3 c.11230+61T>A 0.320887 0.5853 Uncertain 7_63720790_T->G 7 63720790 63720790 T G snp 137.77 0/1 99 9 4 5 0.56 intronic ZNF679 AU NM_153363 exon3 c.11230+65T>G Uncertain 7_63721420_A->G 7 63721420 63721420 A G snp 1462.77 1/1 99 46 0 46 1.0 intronic rs17767341 ZNF679 AU NM_153363 exon4 c.11812+113A>G 0.410343 0.8185 Uncertain 7_63796744_T->C 7 63796744 63796744 T C snp 2852.77 1/1 99 108 0 108 1.0 exonic rs58656578 ZNF736 AU synonymous SNV NM_001170905 exon2 c.T111C p.Y37Y 0.158746 0.3571 0.065922 0.0831 0.3540 Uncertain 7_63796835_T->C 7 63796835 63796835 T C snp 890.77 1/1 66 37 0 37 1.0 intronic rs7787036 ZNF736 AU NM_001294255 exon2 c.22235+72T>C 0.34365 0.3641 Uncertain 7_63808867_C->A 7 63808867 63808867 C A snp 2709.77 1/1 99 86 1 85 0.99 exonic rs11976837 ZNF736 AU nonsynonymous SNV NM_001170905 exon4 c.C626A p.A209E 0.34385 0.3651 0.342682 0.3346 0.4520 0 D 0.0 P -0.898 T 0.997 D 0.902 D Pathogenic 7_63981563_A->G 7 63981563 63981563 A G snp 1143.77 1/1 84 41 0 41 1.0 exonic rs10243954 ZNF680 AU synonymous SNV NM_178558 exon4 c.T1569C p.C523C 0.682308 0.6379 0.684855 0.6233 0.6366 Uncertain 7_63986715_T->C 7 63986715 63986715 T C snp 1436.77 1/1 99 58 0 58 1.0 UTR3 rs75999144 ZNF680 AU 0.0934505 0.3363 Uncertain 7_64023371_T->C 7 64023371 64023371 T C snp 3973.77 1/1 99 136 0 136 1.0 UTR5 rs6969879 ZNF680 AU 0.368011 0.4554 0.294710 0.3130 0.4703 Uncertain 7_64152353_A->G 7 64152353 64152353 A G snp 3867.77 1/1 99 150 0 150 1.0 intronic rs4718101 ZNF107 AU NM_001282359 exon3 c.25678+15A>G 0.549321 0.6825 0.510534 0.5472 0.6599 Uncertain 7_64166642_-->G 7 64166642 64166642 - G indel 552.73 1/1 39 13 0 13 1.0 intronic rs35661712 ZNF107 AU NM_001282359 exon4 c.40041-59insG 0.924521 0.9236 Uncertain 7_64169019_G->A 7 64169019 64169019 G A snp 1818.77 1/1 99 66 0 66 1.0 exonic rs4717205 ZNF107 AU synonymous SNV NM_001282360 exon3 c.G2448A p.E816E 0.811502 0.8075 0.887469 0.9154 0.9182 Uncertain 7_64169061_G->A 7 64169061 64169061 G A snp 1301.77 1/1 93 48 0 48 1.0 UTR3 rs4717206 ZNF107 AU 0.92472 0.9246 0.926457 0.9243 0.9273 Uncertain 7_64254730_C->A 7 64254730 64254730 C A snp 791.77 0/1 99 61 33 28 0.46 upstream rs73360612 ZNF138 AU 0.107628 0.2609 Uncertain 7_64254756_G->A 7 64254756 64254756 G A snp 1178.77 0/1 99 100 51 49 0.49 upstream rs62456793 ZNF138 AU 0.170927 0.3819 Uncertain 7_64254791_G->T 7 64254791 64254791 G T snp 4462.77 1/1 99 167 0 167 1.0 UTR5 rs10949938 ZNF138 AU 0.76258 0.8403 Uncertain 7_64254822_TGCTGCAGGTC->- 7 64254822 64254832 TGCTGCAGGTC - indel 12143.7 0/1 99 223 125 98 0.44 UTR5 rs112918223 ZNF138 AU 0.106829 0.2619 Uncertain 7_64254901_T->C 7 64254901 64254901 T C snp 7129.77 1/1 99 250 0 250 1.0 UTR5 rs11983033 ZNF138 AU 0.777556 0.8403 0.712221 0.6819 0.8373 Uncertain 7_64275284_C->T 7 64275284 64275284 C T snp 1689.77 1/1 99 52 0 52 1.0 intronic rs7809431 ZNF138 AU NM_001160183 exon2 c.20349-11C>T 0.982029 1 0.985107 0.9841 0.9812 Uncertain 7_64275548_A->G 7 64275548 64275548 A G snp 783.77 1/1 63 23 0 23 1.0 intronic rs10236928 ZNF138 AU NM_001160183 exon2 c.20476+126A>G 0.933706 0.878 Uncertain 7_64276089_A->G 7 64276089 64276089 A G snp 4358.77 1/1 99 172 2 170 0.99 intronic rs9654821 ZNF138 AU NM_001160183 exon3 c.21085+58A>G 0.982029 1 0.985107 Uncertain 7_64291225_G->T 7 64291225 64291225 G T snp 1400.77 1/1 99 42 0 42 1.0 intronic rs6460193 ZNF138 AU NM_001160183 exon4 c.36371-92G>T 0.982029 1 Uncertain 7_64291244_T->C 7 64291244 64291244 T C snp 1965.77 1/1 99 72 2 70 0.97 intronic rs7787287 ZNF138 AU NM_001160183 exon4 c.36371-73T>C 0.694688 0.7163 Uncertain 7_64291267_A->T 7 64291267 64291267 A T snp 2547.77 1/1 99 93 0 93 1.0 intronic rs6460194 ZNF138 AU NM_001160183 exon4 c.36371-50A>T 0.982228 1 Uncertain 7_64291333_T->A 7 64291333 64291333 T A snp 3832.77 1/1 99 154 0 154 1.0 exonic rs4483043 ZNF138 AU nonsynonymous SNV NM_001271640 exon3 c.T146A p.F49Y 0.970647 1 0.984888 0.9904 1 1 T 0.983 P -0.977 T 0.001 T 0.002 T Pathogenic 7_64291987_G->A 7 64291987 64291987 G A snp 1023.77 0/1 99 110 64 46 0.42 exonic rs35742014 ZNF138 AU nonsynonymous SNV NM_006524 exon3 c.G289A p.G97S 0.0986422 0.2609 0.026850 0.0701 0.2522 0.19 T 0.0 P -0.974 T 0.991 D 0.881 D Pathogenic 7_64291991_T->A 7 64291991 64291991 T A snp 3044.77 1/1 99 107 0 107 1.0 exonic rs4236203 ZNF138 AU nonsynonymous SNV NM_006524 exon3 c.T293A p.F98Y 0.980631 1 0.980837 0.9947 1 1 T 0.0 P -0.991 T 0.0 T 0.0 T Pathogenic 7_64312707_T->C 7 64312707 64312707 T C snp 272.77 0/1 99 20 9 11 0.55 intergenic rs7804955 ZNF138 AU 0.40615 0.379 Uncertain 7_64313677_C->T 7 64313677 64313677 C T snp 369.77 0/1 99 35 22 13 0.37 intergenic rs62458431 ZNF138 AU 0.147165 0.2728 Uncertain 7_64378806_C->T 7 64378806 64378806 C T snp 900.77 0/1 99 74 40 34 0.46 intronic rs7796966 ZNF273 AU NM_021148 exon3 c.14975+136C>T 0.267372 0.2778 Uncertain 7_64389089_A->C 7 64389089 64389089 A C snp 333.77 0/1 99 53 36 17 0.32 exonic rs2017252 ZNF273 AU nonsynonymous SNV NM_021148 exon4 c.A1383C p.E461D 0.455871 0.4911 0.452154 0.4858 0.4732 0.14 T 0.0 P -0.907 T 0.19 T 0.327 T Pathogenic 7_64437406_A->G 7 64437406 64437406 A G snp 2544.77 1/1 99 90 0 90 1.0 UTR3 rs4607487 ZNF117 AU 0.881789 0.873 Uncertain 7_64437648_G->A 7 64437648 64437648 G A snp 142.77 0/1 99 24 16 8 0.33 UTR3 rs10949955 ZNF117 AU 0.387181 0.4058 Uncertain 7_64438403_G->A 7 64438403 64438403 G A snp 817.77 1/1 63 27 0 27 1.0 UTR3 rs4718175 ZNF117 AU 0.935703 1 Uncertain 7_64438667_G->A 7 64438667 64438667 G A snp 3270.77 1/1 99 118 1 117 0.99 exonic rs1404453 ZNF117 AU stopgain NM_015852 exon4 c.C1282T p.R428X 0.881789 0.873 0.898504 0.9321 0.8527 0.7 T 1.000 P Pathogenic 7_64439613_T->G 7 64439613 64439613 T G snp 635.77 0/1 99 45 22 23 0.51 exonic rs3807068 ZNF117 AU nonsynonymous SNV NM_015852 exon4 c.A336C p.K112N 0.387181 0.4058 0.375911 0.3784 0.4017 0.35 T 0.0 P -0.909 T 0.996 D 0.979 D Pathogenic 7_64439701_C->T 7 64439701 64439701 C T snp 596.77 0/1 99 54 29 25 0.46 exonic rs3807069 ZNF117 AU nonsynonymous SNV NM_015852 exon4 c.G248A p.C83Y 0.387181 0.4058 0.373127 0.3736 0.3945 0.04 T 0.0 P -1.026 T 0.156 T 0.055 T Pathogenic 7_64439938_C->T 7 64439938 64439938 C T snp 917.77 1/1 66 32 0 32 1.0 intronic rs1852016 ZNF117 AU NM_015852 exon1 c.1418+24C>T 0.935104 1 0.948609 0.9833 1 Uncertain 7_64440040_T->G 7 64440040 64440040 T G snp 56.74 1/1 6 2 0 2 1.0 intronic rs1524821 ZNF117 AU NM_015852 exon1 c.1418+126T>G 0.935703 1 Uncertain 7_64451426_C->T 7 64451426 64451426 C T snp 77.77 0/1 99 6 3 3 0.5 UTR3 rs3088174 ERV3-1 AU 0.471845 0.4673 Uncertain 7_64451558_G->A 7 64451558 64451558 G A snp 2569.77 0/1 99 250 139 111 0.44 UTR3 rs11771269 ERV3-1 AU 0.387181 0.4058 0.381555 0.4501 0.4523 Uncertain 7_64451656_G->A 7 64451656 64451656 G A snp 2911.77 0/1 99 250 129 121 0.48 exonic rs4718177 ERV3-1 AU synonymous SNV NM_001007253 exon2 c.C1749T p.V583V 0.387181 0.4058 0.380813 0.4363 0.4596 Uncertain 7_64451699_T->C 7 64451699 64451699 T C snp 6857.77 1/1 99 244 0 244 1.0 exonic rs4717229 ERV3-1 AU nonsynonymous SNV NM_001007253 exon2 c.A1706G p.N569S 0.892772 0.873 0.917598 0.9423 0.8744 0.33 T 0.000 P -0.936 T 0.988 D 0.866 D Pathogenic 7_64451963_T->C 7 64451963 64451963 T C snp 3233.06 1/1 99 110 0 110 1.0 exonic rs4618579 ERV3-1 AU nonsynonymous SNV NM_001007253 exon2 c.A1442G p.N481S 0.892772 0.873 0.922867 0.9485 0.8711 0.85 T 0.0 P -0.958 T 0.286 T 0.03 T Pathogenic 7_64452541_G->A 7 64452541 64452541 G A snp 1645.77 0/1 99 134 65 69 0.51 exonic rs76477054 ERV3-1 AU synonymous SNV NM_001007253 exon2 c.C864T p.H288H 0.0227636 0.0823 0.000909 0.0115 0.0733 Uncertain 7_64452830_C->T 7 64452830 64452830 C T snp 2952.77 0/1 99 250 121 129 0.52 exonic rs34639489 ERV3-1 AU nonsynonymous SNV NM_001007253 exon2 c.G575A p.C192Y 0.471446 0.4673 0.477280 0.5481 0.4530 0.19 T 0.000 P -0.978 T 0.991 D 0.955 D Pathogenic 7_64453136_G->A 7 64453136 64453136 G A snp 2942.77 1/1 99 96 0 96 1.0 exonic rs6460219 ERV3-1 AU nonsynonymous SNV NM_001007253 exon2 c.C269T p.T90I 0.892572 0.873 0.914993 0.9363 0.8532 0.45 T 0.000 P -1.044 T 0.01 T 0.001 T Pathogenic 7_64498748_G->A 7 64498748 64498748 G A snp 39.74 1/1 6 2 0 2 1.0 ncRNA_exonic rs78001727 CCT6P3 AU 0.982428 0.999 Uncertain 7_64535312_C->T 7 64535312 64535312 C T snp 54.74 1/1 6 2 0 2 1.0 downstream rs1852025 CCT6P3 AU 0.989417 1 Uncertain 7_64535417_T->C 7 64535417 64535417 T C snp 251.77 0/1 99 32 19 13 0.41 downstream rs1852024 CCT6P3 AU 0.335463 0.3968 Uncertain 7_64535529_C->T 7 64535529 64535529 C T snp 144.77 0/1 99 24 15 9 0.38 downstream rs5001356 CCT6P3 AU 0.384585 0.4067 Uncertain 7_64639920_C->T 7 64639920 64639920 C T snp 974.77 0/1 99 103 51 52 0.5 intergenic rs73699606 CCT6P3 AU 0.321885 0.3899 Uncertain 7_64639926_C->G 7 64639926 64639926 C G snp 394.77 0/1 99 87 70 17 0.2 intergenic rs80126668 CCT6P3 AU 0.402556 0.2748 Uncertain 7_64639965_G->A 7 64639965 64639965 G A snp 386.77 0/1 99 27 15 12 0.44 intergenic rs113933022 CCT6P3 AU Uncertain 7_64639994_C->T 7 64639994 64639994 C T snp 101.77 0/1 99 9 4 5 0.56 intergenic rs145031228 CCT6P3 AU Uncertain 7_64670116_C->T 7 64670116 64670116 C T snp 449.77 0/1 99 46 22 24 0.52 intergenic rs141830477 CCT6P3 AU 0.330871 0.4395 Uncertain 7_64863392_C->T 7 64863392 64863392 C T snp 1991.77 0/1 99 177 88 89 0.5 exonic rs10265083 ZNF92 AU nonsynonymous SNV NM_001287534 exon2 c.C137T p.A46V 0.331869 0.3145 0.261341 0.2298 0.2965 0.2 T 0.0 P -1.003 T 0.394 T 0.119 T Pathogenic 7_64864607_G->A 7 64864607 64864607 G A snp 468.77 0/1 99 43 27 16 0.37 exonic rs10239197 ZNF92 AU nonsynonymous SNV NM_001287534 exon2 c.G1352A p.R451H 0.348442 0.3145 0.276180 0.2346 0.2964 1 T 0.000 P -0.970 T 0.0 T 0.0 T Pathogenic 7_64864800_A->G 7 64864800 64864800 A G snp 712.77 0/1 99 41 11 30 0.73 UTR3 rs4122883 ZNF92 AU 0.335264 0.3155 0.264905 0.2379 0.3005 Uncertain 7_64864912_A->C 7 64864912 64864912 A C snp 96.28 1/1 9 3 0 3 1.0 UTR3 rs3846972 ZNF92 AU 0.348642 0.3145 Uncertain 7_65084152_C->T 7 65084152 65084152 C T snp 580.77 0/1 99 29 11 18 0.62 intergenic ZNF92 AU 0.656749 0.5506 Uncertain 7_65157864_T->C 7 65157864 65157864 T C snp 228.77 0/1 99 30 17 13 0.43 ncRNA_intronic rs2671990 INTS4P2 AU Uncertain 7_65159983_A->G 7 65159983 65159983 A G snp 120.77 0/1 99 39 29 10 0.26 ncRNA_exonic rs2949280 INTS4P2 AU Uncertain 7_65220463_T->C 7 65220463 65220463 T C snp 405.77 0/1 99 43 26 17 0.4 ncRNA_intronic CCT6P1 AU 0.294329 0.2063 0.375044 Uncertain 7_65220697_G->A 7 65220697 65220697 G A snp 3704.77 1/1 99 138 0 138 1.0 ncRNA_intronic CCT6P1 AU 0.85643 0.8552 Uncertain 7_65338242_G->C 7 65338242 65338242 G C snp 37.77 0/1 66 8 5 3 0.38 upstream rs567043699 VKORC1L1 AU 0.000599042 0.003 Uncertain 7_65425894_A->G 7 65425894 65425894 A G snp 900.77 0/1 99 110 68 42 0.38 exonic rs9530 GUSB AR nonsynonymous SNV NM_000181 exon12 c.T1946C p.L649P 0.580671 0.8323 0.490850 0.5796 0.8363 0.21 T 0.0 P -0.917 T 0.0 T 0.001 T CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000078327.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 7_65435495_T->C 7 65435495 65435495 T C snp 46.79 0/1 23 3 1 2 0.67 intronic rs7383796 GUSB AR NM_001293104 exon4 c.9470+142T>C 0.265575 0.2093 Uncertain 7_65439879_G->C 7 65439879 65439879 G C snp 709.77 0/1 99 52 27 25 0.48 intronic rs781143 GUSB AR NM_001293104 exon7 c.14022-26G>C 0.564297 0.7887 0.488544 0.5722 0.8087 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000078322.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 7_65444359_-->GA 7 65444359 65444359 - GA indel 251.73 0/1 99 15 8 7 0.47 intronic rs139791587 GUSB AR NM_001293104 exon9 c.18502-26insGA 0.463498 0.5551 0.8106 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000078331.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 7_65445453_T->C 7 65445453 65445453 T C snp 1026.77 0/1 99 73 34 39 0.53 intronic GUSB AR NM_001293104 exon10 c.19513+57T>C Uncertain 7_65541185_C->T 7 65541185 65541185 C T snp 1290.77 0/1 99 153 97 56 0.37 intronic rs1183245 ASL AR NM_000048 exon2 c.12+105C>T 0.531949 0.3353 Uncertain 7_65541307_C->G 7 65541307 65541307 C G snp 245.77 0/1 99 17 9 8 0.47 intronic rs1144895 ASL AR NM_000048 exon2 c.12+227C>G 0.528554 0.3353 Uncertain 7_65551931_T->C 7 65551931 65551931 T C snp 901.77 1/1 66 28 0 28 1.0 intronic rs313830 ASL AR NM_000048 exon8 c.10740+123T>C 0.75 0.6518 Uncertain 7_65552231_GT->- 7 65552231 65552232 GT - indel 3255.73 ./1 99 52 0 52 1.0 intronic rs60878697 ASL AR NM_000048 exon9 c.11252-89_11252-88delGT Uncertain 7_65552231_GTGTGTGTGT->- 7 65552231 65552240 GTGTGTGTGT - indel 3255.73 ./1 99 52 0 52 1.0 intronic ASL AR NM_000048 exon9 c.11252-89_11252-80delGTGTGTGTGT Uncertain 7_65552497_A->G 7 65552497 65552497 A G snp 339.77 0/1 99 34 23 11 0.32 intronic rs313829 ASL AR NM_000048 exon9 c.11305+124A>G 0.676917 0.4861 Uncertain 7_65552614_T->C 7 65552614 65552614 T C snp 918.77 1/1 69 24 0 24 1.0 intronic rs313828 ASL AR NM_000048 exon10 c.11647-101T>C 0.750998 0.6528 Uncertain 7_65552792_A->T 7 65552792 65552792 A T snp 1495.77 0/1 99 123 56 67 0.54 intronic rs117035302 ASL AR NM_000048 exon10 c.11710+14A>T 0.0319489 0.1022 0.005920 0.0211 0.0911 Uncertain 7_65554352_C->T 7 65554352 65554352 C T snp 2247.77 1/1 99 84 0 84 1.0 intronic rs160647 ASL AR NM_000048 exon13 c.13254+30C>T 0.75 0.6548 0.769136 0.7615 0.6684 Uncertain 7_65554368_G->T 7 65554368 65554368 G T snp 694.77 0/1 99 76 43 33 0.43 intronic rs117651205 ASL AR NM_000048 exon13 c.13254+46G>T 0.0303514 0.1022 0.004022 0.0189 0.1070 Uncertain 7_65554385_C->T 7 65554385 65554385 C T snp 670.77 0/1 99 60 29 31 0.52 intronic rs2460432 ASL AR NM_000048 exon13 c.13254+63C>T 0.576877 0.4018 0.668200 Uncertain 7_65556936_G->C 7 65556936 65556936 G C snp 1353.77 0/1 99 98 45 53 0.54 intronic rs1167406 ASL AR NM_000048 exon15 c.15924-56G>C 0.578275 0.4008 0.668419 Uncertain 7_65557564_C->T 7 65557564 65557564 C T snp 679.77 0/1 99 59 30 29 0.49 exonic rs75300185 ASL AR synonymous SNV NM_000048 exon16 c.C1164T p.H388H 0.0301518 0.1022 0.004536 0.0208 0.0925 1 D Uncertain 7_65578777_G->A 7 65578777 65578777 G A snp 71.77 0/1 99 6 3 3 0.5 intergenic rs35510581 ASL AR 0.321885 0.2252 Uncertain 7_65579722_G->T 7 65579722 65579722 G T snp 46.77 0/1 31 3 1 2 0.67 upstream rs6946143 CRCP AU 0.527756 0.3413 Uncertain 7_65591355_AA->- 7 65591355 65591356 AA - indel 438.74 1/1 30 10 0 10 1.0 intronic rs528595222 CRCP AU NM_014478 exon2 c.12741-1335_12741-1334delAA 0.728634 0.622 Uncertain 7_65595958_TTTG->- 7 65595958 65595961 TTTG - indel 1160.73 0/1 99 66 30 36 0.55 intronic rs200807145 CRCP AU NM_014478 exon3 c.15880+129_15880+132delTTTG 0.0319489 0.1022 Uncertain 7_65599446_G->A 7 65599446 65599446 G A snp 43.77 0/1 72 8 5 3 0.38 intronic rs6958484 CRCP AU NM_014478 exon4 c.19412+85G>A 0.526957 0.3373 Uncertain 7_65610614_A->G 7 65610614 65610614 A G snp 414.77 1/1 33 11 0 11 1.0 intronic rs316324 CRCP AU NM_014478 exon5 c.30538+127A>G 0.7502 0.6528 Uncertain 7_65817333_G->C 7 65817333 65817333 G C snp 153.77 0/1 99 10 5 5 0.5 intronic rs709595 TPST1 AU NM_003596 exon4 c.112079-158G>C 0.465256 0.623 Uncertain 7_65842128_G->A 7 65842128 65842128 G A snp 74.77 0/1 99 11 7 4 0.36 ncRNA_exonic rs11769079 LINC00174 AU 0.408347 0.5575 0.291143 0.4777 0.5759 Uncertain 7_65842221_A->G 7 65842221 65842221 A G snp 483.77 0/1 99 32 10 22 0.69 ncRNA_exonic rs11765965 LINC00174 AU 0.462859 0.623 0.329649 0.5264 0.7005 Uncertain 7_65842543_-->AT 7 65842543 65842543 - AT indel 4189.73 0/1 99 193 93 100 0.52 ncRNA_exonic rs112115083 LINC00174 AU 0.465056 0.623 0.380831 0.4471 0.6289 ID=COSM291098;OCCURENCE=1(large_intestine) Uncertain 7_65842545_T->C 7 65842545 65842545 T C snp 2073.77 0/1 99 185 92 93 0.5 ncRNA_exonic rs3815685 LINC00174 AU 0.418331 0.5744 0.4466 0.6294 Uncertain 7_65842678_T->G 7 65842678 65842678 T G snp 871.77 0/1 99 71 36 35 0.49 ncRNA_exonic rs77204277 LINC00174 AU 0.0305511 0.1012 Uncertain 7_66094008_C->T 7 66094008 66094008 C T snp 948.77 0/1 99 93 48 45 0.48 UTR5 rs35526611 KCTD7 AR 0.457268 0.2669 0.579602 0.4235 0.3009 Uncertain 7_66098482_G->A 7 66098482 66098482 G A snp 551.77 0/1 99 54 29 25 0.46 intronic rs3764903 KCTD7 AR NM_001167961 exon2 c.4380+51G>A 0.456869 0.2669 0.534599 0.4480 0.2633 Uncertain 7_66103216_C->T 7 66103216 66103216 C T snp 2026.77 0/1 99 230 139 91 0.4 intronic rs75672175 KCTD7 AR NM_001167961 exon3 c.9188-23C>T 0.0307508 0.1022 0.004152 0.0202 0.0910 Uncertain 7_66103435_-->AGGA 7 66103435 66103435 - AGGA indel 1339.73 0/1 99 69 42 27 0.39 intronic rs397720861 KCTD7 AR NM_001167961 exon3 c.9367+17insAGGA 0.125399 0.2123 0.107348 0.1288 0.1825 ID=COSN229934;OCCURENCE=1(NS) Uncertain 7_66104003_C->T 7 66104003 66104003 C T snp 2183.77 0/1 99 169 82 87 0.51 exonic rs117194263 KCTD7 AR synonymous SNV NM_153033 exon4 c.C654T p.D218D 0.0307508 0.1022 0.004152 0.0202 0.0909 CLINSIG=non-pathogenic;CLNDBN=not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000126499.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Uncertain 7_66147057_T->C 7 66147057 66147057 T C snp 1750.77 1/1 99 63 0 63 1.0 upstream rs1882655 RABGEF1 AU 0.866813 0.8581 Uncertain 7_66147101_G->A 7 66147101 66147101 G A snp 472.77 0/1 99 54 33 21 0.39 UTR5 rs2420827 RABGEF1 AU 0.33147 0.2698 Uncertain 7_66147110_C->A 7 66147110 66147110 C A snp 340.77 0/1 99 48 32 16 0.33 UTR5 rs3800823 RABGEF1 AU 0.333666 0.2698 Uncertain 7_66147149_A->G 7 66147149 66147149 A G snp 1171.77 1/1 84 42 0 42 1.0 UTR5 rs3800822 RABGEF1 AU 0.866813 0.8581 Uncertain 7_66147178_C->T 7 66147178 66147178 C T snp 355.77 0/1 99 35 20 15 0.43 UTR5 rs3800820 RABGEF1 AU 0.455871 0.2688 Uncertain 7_66147656_G->C 7 66147656 66147656 G C snp 739.77 0/1 99 78 44 34 0.44 intronic rs2003301 RABGEF1 AU 0.455471 0.2679 Uncertain 7_66147697_-->G 7 66147697 66147697 - G indel 1696.73 1/1 99 46 0 46 1.0 intronic rs397717888 RABGEF1 AU 1 1 Uncertain 7_66147746_C->G 7 66147746 66147746 C G snp 491.77 1/1 36 18 0 18 1.0 intronic rs2003300 RABGEF1 AU 0.580471 0.4802 Uncertain 7_66237101_C->T 7 66237101 66237101 C T snp 114.77 0/1 99 7 3 4 0.57 intronic rs3735151 RABGEF1 AU NM_014504 exon2 c.179+36C>T 0.0309505 0.1032 0.004152 0.0214 0.0923 Uncertain 7_66274375_-->AG 7 66274375 66274375 - AG indel 974.73 1/1 60 20 0 20 1.0 UTR3 rs397817016 RABGEF1 AU 0.999601 1 Uncertain 7_66416155_G->A 7 66416155 66416155 G A snp 2549.77 0/1 99 187 81 106 0.57 intronic rs192206936 TMEM248 AU NM_017994 exon5 c.9270+33G>A 0.00119808 0.006 0.0004 0.0052 Uncertain 7_66459145_A->C 7 66459145 66459145 A C snp 1224.77 0/1 99 83 36 47 0.57 intronic rs11763269 SBDS AR,AU NM_016038 exon4 c.5841-53A>C 0.26278 0.1369 Uncertain 7_66463938_G->A 7 66463938 66463938 G A snp 3078.77 1/1 99 111 0 111 1.0 exonic rs11547292 TYW1 AU synonymous SNV NM_018264 exon3 c.G270A p.A90A 0.174321 0.2401 0.127018 0.1707 0.2163 Uncertain 7_66474502_A->G 7 66474502 66474502 A G snp 1376.77 0/1 99 131 72 59 0.45 intronic rs17748258 TYW1 AU NM_018264 exon4 c.12604-67A>G 0.0788738 0.1786 Uncertain 7_66474559_G->C 7 66474559 66474559 G C snp 1758.77 0/1 99 161 81 80 0.5 intronic rs4717339 TYW1 AU NM_018264 exon4 c.12604-10G>C 0.110823 0.0665 0.123251 0.1316 0.0548 Uncertain 7_66474695_G->A 7 66474695 66474695 G A snp 206.77 0/1 99 44 29 15 0.34 intronic rs4717340 TYW1 AU NM_018264 exon4 c.12706+24G>A 0.110823 0.0665 0.116177 0.1309 0.0540 Uncertain 7_66479228_G->A 7 66479228 66479228 G A snp 37.77 0/1 66 6 4 2 0.33 intronic rs3748107 TYW1 AU NM_018264 exon5 c.17388-125G>A 0.366414 0.5357 Uncertain 7_66479597_C->G 7 66479597 66479597 C G snp 1196.77 0/1 99 128 78 50 0.39 intronic rs6968334 TYW1 AU NM_018264 exon5 c.17583+49C>G 0.216653 0.4772 0.127710 0.1659 0.4607 Uncertain 7_66532235_A->G 7 66532235 66532235 A G snp 1764.77 0/1 99 141 72 69 0.49 intronic rs2711910 TYW1 AU NM_018264 exon10 c.70306-36A>G 0.370807 0.13 0.391742 0.3829 0.1197 Uncertain 7_66579277_T->G 7 66579277 66579277 T G snp 532.77 0/1 99 78 46 32 0.41 intronic rs151139053 TYW1 AU NM_018264 exon13 c.120504-3192T>G 0.0688898 0.1756 0 . Uncertain 7_66582460_T->A 7 66582460 66582460 T A snp 486.77 0/1 99 60 38 22 0.37 intronic rs35171532 TYW1 AU NM_018264 exon13 c.120504-9T>A 0.270966 0.0724 0.284385 0.2258 0.0647 Uncertain 7_66648030_A->G 7 66648030 66648030 A G snp 538.77 0/1 99 67 44 23 0.34 intronic rs2948336 TYW1 AU NM_018264 exon14 c.186147-82A>G 0.270966 0.0734 Uncertain 7_66648157_C->T 7 66648157 66648157 C T snp 2113.77 0/1 99 215 120 95 0.44 exonic rs4145350 TYW1 AU synonymous SNV NM_018264 exon14 c.C1743T p.N581N 0.271183 0.2240 0.0601 Uncertain 7_66648199_G->A 7 66648199 66648199 G A snp 1831.77 0/1 99 193 108 85 0.44 exonic rs55756354 TYW1 AU synonymous SNV NM_018264 exon14 c.G1785A p.G595G 0.233226 0.2354 0.0714 Uncertain 7_66660045_C->T 7 66660045 66660045 C T snp 206.77 0/1 99 18 9 9 0.5 intronic rs55921608 TYW1 AU NM_018264 exon15 c.198191-111C>T 0.276757 0.0734 Uncertain 7_66660078_T->C 7 66660078 66660078 T C snp 426.77 0/1 99 43 23 20 0.47 intronic rs56035776 TYW1 AU NM_018264 exon15 c.198191-78T>C 0.276757 0.0734 Uncertain 7_66660242_A->G 7 66660242 66660242 A G snp 612.77 0/1 99 137 99 38 0.28 exonic rs2949097 TYW1 AU nonsynonymous SNV NM_018264 exon15 c.A1895G p.H632R 0.2077 0.0526 0.39 T 0.0 P -0.921 T 0.0 T 0.0 T Pathogenic 7_66660247_T->C 7 66660247 66660247 T C snp 588.77 0/1 99 140 104 36 0.26 exonic rs55673383 TYW1 AU synonymous SNV NM_018264 exon15 c.T1900C p.L634L 0.2052 0.0521 Uncertain 7_66660360_C->T 7 66660360 66660360 C T snp 426.77 0/1 99 80 55 25 0.31 intronic rs34574768 TYW1 AU NM_018264 exon15 c.198359+36C>T 0.276957 0.0744 0.194987 0.2281 0.0555 Uncertain 7_66660377_C->A 7 66660377 66660377 C A snp 435.77 0/1 99 64 41 23 0.36 intronic rs35290283 TYW1 AU NM_018264 exon15 c.198359+53C>A 0.276757 0.0734 Uncertain 7_66703238_-->T 7 66703238 66703238 - T indel 214.73 0/1 99 30 17 13 0.43 intronic rs201456718 TYW1 AU NM_018264 exon16 c.241329-56insT 0.233227 0.0923 Uncertain 7_66703328_G->A 7 66703328 66703328 G A snp 1659.77 0/1 99 201 123 78 0.39 exonic rs139935023 TYW1 AU nonsynonymous SNV NM_018264 exon16 c.G2011A p.D671N 0.248802 0.0734 0.2317 0.0622 0.08 T 0.999 P -0.955 T 0.633 T 0.171 P Pathogenic 7_66703636_G->A 7 66703636 66703636 G A snp 50.74 1/1 6 2 0 2 1.0 UTR3 rs1045053 TYW1 AU 0.249002 0.0734 Uncertain 7_66721208_C->T 7 66721208 66721208 C T snp 415.77 0/1 99 28 12 16 0.57 intergenic rs144240344 TYW1 AU 0.152955 0.3353 Uncertain 7_66762050_A->T 7 66762050 66762050 A T snp 1372.77 0/1 99 117 52 65 0.56 ncRNA_intronic rs10245535 PMS2P4 AU 0.425919 0.3522 Uncertain 7_66773340_G->A 7 66773340 66773340 G A snp 688.77 0/1 99 59 31 28 0.47 ncRNA_intronic rs35036128 STAG3L4 AU 0.137181 0.253 Uncertain 7_66773745_G->T 7 66773745 66773745 G T snp 140.77 0/1 99 16 11 5 0.31 ncRNA_intronic rs7791853 STAG3L4 AU 0.274361 0.2569 Uncertain 7_66774157_T->C 7 66774157 66774157 T C snp 843.77 1/1 63 27 0 27 1.0 ncRNA_intronic rs2041575 STAG3L4 AU 0.608027 0.6875 0.551308 0.5564 0.6964 Uncertain 7_66774604_G->C 7 66774604 66774604 G C snp 2458.77 1/1 99 92 0 92 1.0 ncRNA_exonic rs1045513 STAG3L4 AU 0.608427 0.6875 0.552284 0.5545 0.6955 0.49 T -0.946 T 0.002 T 0.001 T Uncertain 7_66785029_G->T 7 66785029 66785029 G T snp 916.77 0/1 99 78 38 40 0.51 ncRNA_intronic rs2537522 STAG3L4 AU 0.449681 0.3393 Uncertain 7_66785137_C->A 7 66785137 66785137 C A snp 1939.77 0/1 99 182 91 91 0.5 ncRNA_exonic rs9443 STAG3L4 AU 0.30631 0.1071 0.364601 0.3360 0.0858 Uncertain 7_69064637_A->G 7 69064637 69064637 A G snp 46.77 0/1 31 3 1 2 0.67 UTR5 rs3735260 AUTS2 AD 0.133187 0.0823 0.1508 0.1111 Uncertain 7_70249760_C->A 7 70249760 70249760 C A snp 213.77 0/1 99 22 14 8 0.36 intronic rs9886311 AUTS2 AD NM_015570 exon16 c.1185288-167C>A Uncertain 7_70249868_G->A 7 70249868 70249868 G A snp 1497.77 0/1 99 143 77 66 0.46 intronic rs3817575 AUTS2 AD NM_015570 exon16 c.1185288-59G>A 0.224641 0.37 0.142795 Uncertain 7_70249908_C->T 7 70249908 70249908 C T snp 1582.77 0/1 99 151 80 71 0.47 intronic rs2293504 AUTS2 AD NM_015570 exon16 c.1185288-19C>T 0.231629 0.373 0.142473 0.1661 0.3988 Uncertain 7_70252185_A->G 7 70252185 70252185 A G snp 3449.77 0/1 99 250 105 145 0.58 intronic rs2293500 AUTS2 AD NM_015570 exon18 c.1187555-9A>G 0.691294 0.5268 0.795479 0.7661 0.5383 Uncertain 7_70252588_A->G 7 70252588 70252588 A G snp 162.78 0/1 24 6 1 5 0.83 intronic rs2293497 AUTS2 AD NM_015570 exon18 c.1187778+171A>G 0.686102 0.5268 Uncertain 7_70254674_G->T 7 70254674 70254674 G T snp 671.77 0/1 99 57 27 30 0.53 intronic rs941346 AUTS2 AD NM_015570 exon19 c.1190094-59G>T 0.563498 0.4841 Uncertain 7_70597884_G->A 7 70597884 70597884 G A snp 2397.77 0/1 99 184 77 107 0.58 exonic rs61741535 WBSCR17 AU synonymous SNV NM_022479 exon1 c.G96A p.A32A 0.0599042 0.1002 0.055385 0.0741 0.1133 Uncertain 7_70598059_A->G 7 70598059 70598059 A G snp 769.77 1/1 57 28 0 28 1.0 intronic rs2903458 WBSCR17 AU NM_022479 exon1 c.238+33A>G 0.840256 0.9881 0.795911 0.7966 0.9950 Uncertain 7_70598104_C->T 7 70598104 70598104 C T snp 79.77 0/1 99 8 4 4 0.5 intronic rs12673981 WBSCR17 AU NM_022479 exon1 c.238+78C>T 0.0597045 0.1002 Uncertain 7_70598132_C->T 7 70598132 70598132 C T snp 176.9 1/1 15 6 0 6 1.0 intronic rs6976185 WBSCR17 AU NM_022479 exon1 c.238+106C>T 0.981629 0.999 Uncertain 7_70765291_T->C 7 70765291 70765291 T C snp 190.9 1/1 15 9 0 9 1.0 intronic rs10266560 WBSCR17 AU NM_022479 exon2 c.202747-35244T>C 0.252995 0.3383 0.2796 0.4310 Uncertain 7_70765496_A->G 7 70765496 70765496 A G snp 1649.77 1/1 99 63 0 63 1.0 intronic rs10263619 WBSCR17 AU NM_022479 exon2 c.202747-35039A>G 0.240016 0.3383 0.2509 0.3557 Uncertain 7_70765503_C->G 7 70765503 70765503 C G snp 1672.77 1/1 99 62 0 62 1.0 intronic rs7806503 WBSCR17 AU NM_022479 exon2 c.202747-35032C>G 0.632588 0.8274 0.6275 0.7969 Uncertain 7_70765601_CA->- 7 70765601 70765602 CA - indel 226.8 1/1 18 10 0 10 1.0 intronic rs66762992 WBSCR17 AU NM_022479 exon2 c.202747-34934_202747-34933delCA 0.239417 0.3373 Uncertain 7_70800468_C->T 7 70800468 70800468 C T snp 1060.77 0/1 99 86 40 46 0.53 intronic rs73181639 WBSCR17 AU NM_022479 exon2 c.202747-67C>T 0.202276 0.3095 Uncertain 7_70885883_-->T 7 70885883 70885883 - T indel 3483.73 0/1 99 195 98 97 0.5 intronic rs11455717 WBSCR17 AU NM_022479 exon5 c.288105-10insT 0.435104 0.3819 0.569089 0.5833 0.4166 Uncertain 7_70886107_-->C 7 70886107 70886107 - C indel 2886.73 1/1 99 80 0 80 1.0 intronic rs11455716 WBSCR17 AU NM_022479 exon5 c.288303+16insC 1 1 1.0000 1 Uncertain 7_71036473_C->T 7 71036473 71036473 C T snp 2196.77 1/1 99 77 0 77 1.0 intronic rs10277319 WBSCR17 AU NM_022479 exon6 c.438599+86C>T 0.9998 1 Uncertain 7_71135192_A->G 7 71135192 71135192 A G snp 850.77 0/1 99 56 26 30 0.54 intronic rs2302440 WBSCR17 AU NM_022479 exon8 c.537306+98A>G 0.544129 0.5813 Uncertain 7_71253041_T->C 7 71253041 71253041 T C snp 276.77 0/1 99 16 6 10 0.63 intronic rs736145 CALN1 AU NM_001017440 exon1 c.128+154T>C 0.320487 0.5724 Uncertain 7_71571436_G->C 7 71571436 71571436 G C snp 430.77 1/1 33 15 0 15 1.0 intronic rs10950296 CALN1 AU NM_001017440 exon4 c.318520+157G>C 0.997204 1 Uncertain 7_71743832_C->T 7 71743832 71743832 C T snp 1613.77 0/1 99 139 71 68 0.49 intronic rs2074011 CALN1 AU NM_001017440 exon5 c.491036+37C>T 0.0449281 0.1319 0.002230 0.0214 0.1243 Uncertain 7_71868228_A->C 7 71868228 71868228 A C snp 502.77 0/1 99 65 39 26 0.4 intronic rs62463250 CALN1 AU NM_031468 exon6 c.615476-7A>C 0.172324 0.2688 0.128527 0.2093 0.3053 Uncertain 7_72081604_G->T 7 72081604 72081604 G T snp 234.77 0/1 99 121 101 20 0.17 intronic TYW1B AU NM_001145440 exon2 c.41174-52G>T Uncertain 7_72081634_T->A 7 72081634 72081634 T A snp 323.77 0/1 99 190 155 35 0.18 intronic TYW1B AU NM_001145440 exon2 c.41174-22T>A 0.1558 0.0354 Uncertain 7_72081774_A->G 7 72081774 72081774 A G snp 291.77 0/1 99 247 201 46 0.19 exonic TYW1B AU unknown 0.1437 0.0340 Uncertain 7_72081809_T->C 7 72081809 72081809 T C snp 37.77 0/1 66 216 186 30 0.14 exonic TYW1B AU unknown 0.0096 0.0005 Uncertain 7_72093957_A->G 7 72093957 72093957 A G snp 1576.77 0/1 99 173 84 89 0.51 exonic TYW1B AU unknown 0.515575 0.5595 0.2838 0.3700 Uncertain 7_72094075_C->A 7 72094075 72094075 C A snp 675.77 0/1 99 44 17 27 0.61 intronic TYW1B AU NM_001145440 exon3 c.53500+93C>A 0.280351 0.5526 Uncertain 7_72178756_C->A 7 72178756 72178756 C A snp 1904.77 0/1 99 241 158 83 0.34 exonic TYW1B AU unknown 0.126198 0.3165 0.0796 0.3220 Uncertain 7_72193864_T->C 7 72193864 72193864 T C snp 2169.77 0/1 99 212 112 100 0.47 exonic TYW1B AU unknown 0.386781 0.5565 0.288655 0.2985 0.5330 Uncertain 7_72193868_G->A 7 72193868 72193868 G A snp 2149.77 0/1 99 208 109 99 0.48 exonic TYW1B AU unknown 0.386781 0.5565 0.275077 0.2989 0.5335 Uncertain 7_72209704_C->T 7 72209704 72209704 C T snp 195.77 0/1 87 9 3 6 0.67 intronic TYW1B AU NM_001145440 exon8 c.169096+126C>T 0.391773 0.5556 Uncertain 7_72242657_G->T 7 72242657 72242657 G T snp 391.77 0/1 99 30 17 13 0.43 intronic TYW1B AU NM_001145440 exon9 c.202062+113G>T 0.391374 0.5546 Uncertain 7_72277527_T->C 7 72277527 72277527 T C snp 147.77 0/1 99 12 6 6 0.5 intronic TYW1B AU NM_001145440 exon11 c.237176-131T>C 0.392772 0.5546 Uncertain 7_72277981_T->C 7 72277981 72277981 T C snp 1704.77 0/1 99 119 60 59 0.5 intronic TYW1B AU NM_001145440 exon11 c.237467+32T>C 0.392772 0.5546 0.2971 0.5298 Uncertain 7_72280978_-->TGTGTT 7 72280978 72280978 - TGTGTT indel 2335.73 0/1 99 56 27 29 0.52 intronic rs11281952 TYW1B AU NM_001145440 exon12 c.240574-78insTGTGTT 0.391174 0.5506 Uncertain 7_72281355_C->T 7 72281355 72281355 C T snp 544.77 0/1 99 31 15 16 0.52 intronic TYW1B AU NM_001145440 exon12 c.240769+104C>T 0.389776 0.5506 Uncertain 7_72286028_C->T 7 72286028 72286028 C T snp 1303.77 0/1 99 116 58 58 0.5 exonic TYW1B AU unknown 0.169529 0.3165 0.067236 0.0890 0.3234 Uncertain 7_72304471_T->- 7 72304471 72304471 T - indel 3551.73 1/1 99 85 2 83 0.98 ncRNA_exonic SBDSP1 AU Uncertain 7_72413443_G->A 7 72413443 72413443 G A snp 873.77 0/1 99 77 43 34 0.44 exonic rs62463429 POM121 AU nonsynonymous SNV NM_172020 exon12 c.G2116A p.A706T 0.4667 0.5193 0.35 T 0.0 P -0.926 T 0.089 T 0.016 T Pathogenic 7_72413581_G->A 7 72413581 72413581 G A snp 1520.77 0/1 99 249 138 111 0.45 exonic rs71554687 POM121 AU nonsynonymous SNV NM_172020 exon12 c.G2254A p.V752I 0.3207 0.2038 1 T 1 N -0.968 T 0.0 T 0.0 T Pathogenic 7_72413593_T->C 7 72413593 72413593 T C snp 1521.77 0/1 99 247 136 111 0.45 exonic rs71554688 POM121 AU nonsynonymous SNV NM_172020 exon12 c.T2266C p.Y756H 0.3952 0.3338 0.55 T 1 N -0.951 T 0.0 T 0.0 T Pathogenic 7_72413874_T->C 7 72413874 72413874 T C snp 504.77 1/1 48 28 0 28 1.0 exonic rs199633193 POM121 AU synonymous SNV NM_172020 exon12 c.T2547C p.N849N 0.3256 0.2616 Uncertain 7_72416333_C->G 7 72416333 72416333 C G snp 551.77 1/1 42 21 0 21 1.0 intronic rs237934 POM121 AU NM_172020 exon13 c.19297+86C>G 0.993411 1 Uncertain 7_72418963_T->C 7 72418963 72418963 T C snp 2923.77 1/1 99 125 0 125 1.0 exonic rs7056 POM121 AU nonsynonymous SNV NM_001257190 exon16 c.T2954C p.L985P 0.573083 0.4663 0.517555 0.5402 0.4600 0.03 T 0.000 P -0.974 T 0.0 T 0.0 T Pathogenic 7_72436652_A->G 7 72436652 72436652 A G snp 149.84 1/1 18 10 1 9 0.9 intergenic rs121966 NSUN5P2 AU 0.736022 0.7123 0.6876 0.6605 0.17 T 0.000 P -0.826 T 0.0 T 0.0 T Uncertain 7_72711939_C->G 7 72711939 72711939 C G snp 62.77 0/1 91 37 32 5 0.14 intergenic NCF1B AU 0.0173722 0.002 Uncertain 7_72711946_T->C 7 72711946 72711946 T C snp 65.77 0/1 94 43 38 5 0.12 intergenic NCF1B AU 0.0181709 0.004 Uncertain 7_72711986_G->T 7 72711986 72711986 G T snp 281.77 0/1 99 57 10 47 0.82 intergenic NCF1B AU Uncertain 7_72711991_C->T 7 72711991 72711991 C T snp 247.77 0/1 99 60 12 48 0.8 intergenic NCF1B AU Uncertain 7_72712121_T->C 7 72712121 72712121 T C snp 468.77 1/1 39 23 0 23 1.0 intergenic NCF1B AU 0.683906 0.372 Uncertain 7_72722981_G->A 7 72722981 72722981 G A snp 207.84 1/1 18 7 0 7 1.0 upstream rs1880948 NSUN5 AU 0.82488 0.6359 Uncertain 7_72738350_-->G 7 72738350 72738350 - G indel 885.73 1/1 69 23 0 23 1.0 intronic rs55963844 TRIM50 AU NM_178125 exon6 c.11470-36insG 1 1 0.9999 1 Uncertain 7_72738749_A->G 7 72738749 72738749 A G snp 1504.77 1/1 99 50 0 50 1.0 exonic TRIM50 AU nonsynonymous SNV NM_001281450 exon2 c.T37C p.W13R 0.999601 1 0.9997 1 0.07 T 0.0 P -0.954 T 0.0 T 0.0 T Pathogenic 7_72738762_C->T 7 72738762 72738762 C T snp 1156.77 1/1 84 37 0 37 1.0 exonic TRIM50 AU synonymous SNV NM_001281450 exon2 c.G24A p.L8L 0.999601 1 0.9993 0.9997 Uncertain 7_72738763_A->G 7 72738763 72738763 A G snp 1162.77 1/1 84 37 0 37 1.0 exonic TRIM50 AU nonsynonymous SNV NM_001281450 exon2 c.T23C p.L8P 0.999601 1 0.9993 0.9997 0.29 T 0.0 P -1.014 T 0.0 T 0.0 T Pathogenic 7_72750627_G->A 7 72750627 72750627 G A snp 332.78 1/1 27 11 0 11 1.0 intronic FKBP6 AU NM_003602 exon6 c.12208-4012G>A 0.880791 0.8423 Uncertain 7_72755520_T->C 7 72755520 72755520 T C snp 214.84 1/1 18 6 0 6 1.0 intronic FKBP6 AU NM_003602 exon7 c.12950+139T>C 0.839856 0.7123 Uncertain 7_72861782_C->T 7 72861782 72861782 C T snp 303.77 0/1 99 25 11 14 0.56 intronic BAZ1B AU NM_032408 exon5 c.5184+73C>T 0.136182 0.3819 Uncertain 7_72861849_T->C 7 72861849 72861849 T C snp 37.77 0/1 66 9 6 3 0.33 intronic BAZ1B AU NM_032408 exon5 c.5184+140T>C 0.347843 0.4395 Uncertain 7_72879899_A->- 7 72879899 72879899 A - indel 112.73 0/1 99 37 20 17 0.46 intronic BAZ1B AU NM_032408 exon10 c.23342+32delA 0.312800 0.2791 0.2684 Uncertain 7_72891754_C->T 7 72891754 72891754 C T snp 2697.77 0/1 99 180 81 99 0.55 exonic BAZ1B AU synonymous SNV NM_032408 exon7 c.G2037A p.S679S 0.347644 0.4395 0.351915 0.4452 0.4618 Uncertain 7_73020301_T->C 7 73020301 73020301 T C snp 2853.77 1/1 99 100 0 100 1.0 exonic MLXIPL AU synonymous SNV NM_032951 exon6 c.A759G p.S253S 0.971645 1 0.960391 0.9643 0.9997 Uncertain 7_73030706_C->T 7 73030706 73030706 C T snp 138.77 0/1 99 11 6 5 0.45 intronic MLXIPL AU NM_032953 exon16 c.22313+199C>T 0.0557109 0.123 Uncertain 7_73096993_T->C 7 73096993 73096993 T C snp 886.77 0/1 99 75 39 36 0.48 UTR3 DNAJC30 AU 0.302915 0.3204 Uncertain 7_73097654_C->T 7 73097654 73097654 C T snp 1942.77 0/1 99 179 102 77 0.43 exonic DNAJC30 AU nonsynonymous SNV NM_032317 exon1 c.G100A p.G34R 0.302716 0.3204 0.367341 0.3857 0.3582 0.59 T 0.000 P -0.972 T 0.0 T 0.001 T Pathogenic 7_73097720_G->C 7 73097720 73097720 G C snp 1001.77 0/1 99 79 40 39 0.49 exonic DNAJC30 AU nonsynonymous SNV NM_032317 exon1 c.C34G p.L12V 0.0958466 0.0198 0.098481 0.0835 0.0216 0.21 T 0.000 P -1.119 T 0.002 T 0.005 T Pathogenic 7_73112058_G->- 7 73112058 73112058 G - indel 4345.73 1/1 99 127 0 127 1.0 intronic WBSCR22 AU NM_001202560 exon12 c.14069+34delG 0.5672 0.4095 Uncertain 7_73115201_G->A 7 73115201 73115201 G A snp 2775.77 0/1 99 224 104 120 0.54 intronic rs41271241 STX1A AU NM_004603 exon2 c.434+31G>A 0.0946486 0.0198 0.103721 0.0920 0.0246 0.01 T 1.000 P -1.080 T 0.01 T 0.009 T Uncertain 7_73117765_G->A 7 73117765 73117765 G A snp 1398.77 0/1 99 129 68 61 0.47 intronic STX1A AU NM_001165903 exon4 c.3283-319G>A 0.0782748 0.2728 0.0547 0.3772 Uncertain 7_73118033_G->A 7 73118033 73118033 G A snp 1068.77 0/1 99 87 41 46 0.53 intronic STX1A AU NM_001165903 exon4 c.3283-51G>A 0.335463 0.2976 0.420874 Uncertain 7_73118398_T->C 7 73118398 73118398 T C snp 755.77 1/1 57 21 0 21 1.0 intronic STX1A AU NM_001165903 exon5 c.3676-79T>C 0.980631 1 Uncertain 7_73122923_A->G 7 73122923 73122923 A G snp 4399.77 1/1 99 162 0 162 1.0 exonic STX1A AU synonymous SNV NM_004603 exon3 c.T204C p.D68D 0.457069 0.4067 0.545748 0.5235 0.4218 ID=CM014827;DIS=Type 2 diabetes, age of onset, association with;TAG=DFP;PUB=11719842 DFP Uncertain 7_73123173_C->T 7 73123173 73123173 C T snp 424.77 0/1 99 20 7 13 0.65 intronic STX1A AU NM_001165903 exon8 c.8217+155C>T 0.000199681 0.001 Uncertain 7_73151220_G->C 7 73151220 73151220 G C snp 3911.77 1/1 99 138 0 138 1.0 intronic ABHD11 AU NM_001145364 exon2 c.370-38G>C 0.421526 0.4296 0.337921 0.3505 0.4210 Uncertain 7_73151644_A->G 7 73151644 73151644 A G snp 6518.77 1/1 99 232 0 232 1.0 exonic ABHD11 AU synonymous SNV NM_148912 exon4 c.T540C p.Y180Y 0.604633 0.5218 0.585422 0.5435 0.5296 Uncertain 7_73152579_C->- 7 73152579 73152579 C - indel 2493.73 1/1 99 78 0 78 1.0 intronic ABHD11 AU NM_001145364 exon4 c.1769-78delC Uncertain 7_73184435_G->C 7 73184435 73184435 G C snp 1849.77 1/1 99 64 0 64 1.0 UTR5 CLDN3 AU 0.527756 0.5089 Uncertain 7_73184534_T->C 7 73184534 73184534 T C snp 50.74 1/1 6 2 0 2 1.0 UTR5 CLDN3 AU 0.527756 0.5089 Uncertain 7_73243786_T->G 7 73243786 73243786 T G snp 2555.77 0/1 99 186 89 97 0.52 intergenic CLDN3 AU 0.572284 0.5804 Uncertain 7_73245519_T->C 7 73245519 73245519 T C snp 1167.77 0/1 99 105 54 51 0.49 UTR5 CLDN4 AU 0.580871 0.5804 0.666282 0.6724 0.6073 Uncertain 7_73249165_T->A 7 73249165 73249165 T A snp 1756.77 0/1 99 151 73 78 0.52 exonic WBSCR27 AU nonsynonymous SNV NM_152559 exon6 c.A646T p.R216W 0.58107 0.5813 0.666923 0.6644 0.6061 0.19 T 0.001 P -0.964 T 0.973 D 0.43 D Pathogenic 7_73249299_G->C 7 73249299 73249299 G C snp 649.77 0/1 99 58 32 26 0.45 exonic WBSCR27 AU nonsynonymous SNV NM_152559 exon6 c.C512G p.S171W 0.58107 0.5813 0.666769 0.6640 0.6039 0.18 T 0.992 P -1.041 T 0.993 D 0.804 D Pathogenic 7_73254812_T->C 7 73254812 73254812 T C snp 446.77 0/1 99 44 23 21 0.48 exonic WBSCR27 AU nonsynonymous SNV NM_152559 exon4 c.A320G p.Q107R 0.58127 0.5813 0.660617 0.6764 0.6177 1 T 0.0 P -0.970 T 0.0 T 0.0 T Pathogenic 7_73254910_T->A 7 73254910 73254910 T A snp 178.77 0/1 99 14 7 7 0.5 intronic WBSCR27 AU NM_152559 exon3 c.5807+31T>A 0.635240 0.6603 0.6037 Uncertain 7_73255252_T->A 7 73255252 73255252 T A snp 125.78 0/1 25 5 1 4 0.8 intronic WBSCR27 AU NM_152559 exon4 c.6327-147T>A 0.58147 0.5813 Uncertain 7_73255647_G->C 7 73255647 73255647 G C snp 680.77 0/1 99 56 24 32 0.57 intronic WBSCR27 AU NM_152559 exon4 c.6456+119G>C 0.537939 0.5823 Uncertain 7_73275501_T->C 7 73275501 73275501 T C snp 594.77 0/1 99 58 32 26 0.45 UTR5 WBSCR28 AU 0.576278 0.63 0.671072 0.6655 0.6466 Uncertain 7_73275565_T->A 7 73275565 73275565 T A snp 856.77 0/1 99 84 48 36 0.43 exonic WBSCR28 AU nonsynonymous SNV NM_182504 exon1 c.T41A p.I14N 0.544728 0.63 0.634487 0.6563 0.6471 0.06 T 0.0 P -1.097 T 0.835 T 0.576 P Pathogenic 7_73275769_C->T 7 73275769 73275769 C T snp 119.77 0/1 99 9 4 5 0.56 intronic WBSCR28 AU NM_182504 exon1 c.72+173C>T 0.544329 0.63 0.6143 0.7013 Uncertain 7_73279482_T->C 7 73279482 73279482 T C snp 1515.77 0/1 99 104 46 58 0.56 exonic WBSCR28 AU nonsynonymous SNV NM_182504 exon2 c.T232C p.W78R 0.561701 0.6498 0.610499 0.6386 0.6620 1 T 0.0 P -0.976 T 0.0 T 0.0 T Pathogenic 7_73456850_G->A 7 73456850 73456850 G A snp 262.8 1/1 21 7 0 7 1.0 intronic ELN AD NM_001278913 exon5 c.14426-93G>A 0.189097 0.377 Uncertain 7_73470782_C->T 7 73470782 73470782 C T snp 1849.77 1/1 99 55 0 55 1.0 intronic ELN AD NM_001278912 exon20 c.28248+17C>T 0.756589 0.6815 0.793172 0.7895 0.7025 Uncertain 7_73472050_C->T 7 73472050 73472050 C T snp 1078.77 1/1 78 41 0 41 1.0 intronic ELN AD NM_001278912 exon22 c.29509+24C>T 0.654353 0.6875 0.594813 0.5933 0.7103 Uncertain 7_73523685_G->A 7 73523685 73523685 G A snp 46.74 1/1 6 2 0 2 1.0 intronic LIMK1 AU NM_001204426 exon9 c.15787+319G>A 0.826078 0.8938 Uncertain 7_73530046_A->G 7 73530046 73530046 A G snp 1817.77 1/1 99 52 0 52 1.0 intronic LIMK1 AU NM_001204426 exon12 c.22552-85A>G 0.91873 0.9415 Uncertain 7_73631206_C->T 7 73631206 73631206 C T snp 866.77 0/1 99 111 72 39 0.35 intronic LAT2 AU NM_032464 exon4 c.889+12C>T 0.000199681 Uncertain 7_73752699_C->T 7 73752699 73752699 C T snp 82.77 0/1 99 9 4 5 0.56 intronic rs574637 CLIP2 AU NM_032421 exon3 c.20901-78C>T 0.536542 0.495 Uncertain 7_73753250_T->C 7 73753250 73753250 T C snp 2845.77 0/1 99 250 124 126 0.5 exonic CLIP2 AU synonymous SNV NM_003388 exon3 c.T594C p.T198T 0.541534 0.494 0.628964 0.6604 0.4605 Uncertain 7_73768065_T->C 7 73768065 73768065 T C snp 315.77 0/1 99 33 20 13 0.39 intronic CLIP2 AU NM_032421 exon4 c.36333-144T>C 0.552516 0.4921 Uncertain 7_73791257_G->A 7 73791257 73791257 G A snp 77.77 0/1 99 8 5 3 0.38 intronic CLIP2 AU NM_032421 exon9 c.59276+105G>A 0.145168 0.3294 Uncertain 7_73800711_C->T 7 73800711 73800711 C T snp 417.77 0/1 99 39 24 15 0.38 intronic CLIP2 AU NM_032421 exon11 c.68974-139C>T 0.314696 0.3343 Uncertain 7_73801019_A->G 7 73801019 73801019 A G snp 353.77 0/1 99 36 22 14 0.39 intronic CLIP2 AU NM_032421 exon11 c.69058+85A>G 0.169129 0.3919 Uncertain 7_73803644_T->A 7 73803644 73803644 T A snp 109.77 0/1 99 12 7 5 0.42 intronic CLIP2 AU NM_032421 exon12 c.71713+55T>A 0.620407 0.496 Uncertain 7_73814749_G->C 7 73814749 73814749 G C snp 6689.77 1/1 99 242 0 242 1.0 exonic CLIP2 AU nonsynonymous SNV NM_032421 exon14 c.G2825C p.R942P 0.988818 1 0.982162 0.9822 1 0.45 T 0.001 P -0.964 T 0.0 T 0.0 T Pathogenic 7_73818404_C->T 7 73818404 73818404 C T snp 696.77 1/1 54 19 0 19 1.0 UTR3 CLIP2 AU 0.683906 0.7639 Uncertain 7_73922331_T->C 7 73922331 73922331 T C snp 511.77 0/1 99 30 14 16 0.53 intronic GTF2IRD1 AU 0.185703 0.4077 Uncertain 7_73922613_T->C 7 73922613 73922613 T C snp 2846.77 0/1 99 249 142 107 0.43 intronic GTF2IRD1 AU NM_016328 exon2 c.123+80T>C 0.240216 0.4623 Uncertain 7_73922677_C->G 7 73922677 73922677 C G snp 2312.77 0/1 99 178 96 82 0.46 intronic GTF2IRD1 AU NM_016328 exon2 c.123+144C>G 0.238419 0.4623 Uncertain 7_73926954_-->G 7 73926954 73926954 - G indel 300.25 0/1 9 9 1 8 0.89 intronic GTF2IRD1 AU NM_016328 exon3 c.4749-205insG 0.194089 0.4067 Uncertain 7_73929583_G->T 7 73929583 73929583 G T snp 158.77 0/1 99 11 5 6 0.55 intronic GTF2IRD1 AU NM_001199207 exon4 c.7264-91G>T 0.0948482 0.37 Uncertain 7_73930000_C->A 7 73930000 73930000 C A snp 144.77 0/1 63 7 2 5 0.71 intronic GTF2IRD1 AU NM_016328 exon4 c.7516+74C>A 0.0948482 0.37 Uncertain 7_73935389_C->T 7 73935389 73935389 C T snp 172.77 0/1 99 11 5 6 0.55 intronic GTF2IRD1 AU NM_016328 exon7 c.13127-148C>T 0.105431 0.3542 Uncertain 7_73944185_T->C 7 73944185 73944185 T C snp 1783.77 0/1 99 179 96 83 0.46 exonic GTF2IRD1 AU synonymous SNV NM_016328 exon9 c.T1212C p.Y404Y 0.283347 0.4663 0.233969 0.2462 0.4766 Uncertain 7_73949411_T->C 7 73949411 73949411 T C snp 1508.77 0/1 99 121 61 60 0.5 intronic GTF2IRD1 AU NM_016328 exon10 c.27032-31T>C 0.130591 0.3909 0.036906 0.0745 0.3842 Uncertain 7_73950298_G->A 7 73950298 73950298 G A snp 150.77 0/1 99 10 5 5 0.5 intronic GTF2IRD1 AU NM_016328 exon11 c.28086-198G>A 0.0974441 0.3234 0.012703 Uncertain 7_73950636_G->A 7 73950636 73950636 G A snp 936.77 0/1 99 67 32 35 0.52 intronic GTF2IRD1 AU NM_016328 exon11 c.28195+31G>A 0.280751 0.4474 0.236372 0.2536 0.4517 Uncertain 7_73952617_G->T 7 73952617 73952617 G T snp 35.77 0/1 64 9 7 2 0.22 intronic GTF2IRD1 AU NM_016328 exon12 c.30093+114G>T 0.0846645 0.3224 Uncertain 7_73969541_A->G 7 73969541 73969541 A G snp 232.77 0/1 99 28 17 11 0.39 exonic GTF2IRD1 AU nonsynonymous SNV NM_016328 exon18 c.A1954G p.M652V 0.414537 0.5129 0.372905 0.3078 0.5157 0.54 T 0.0 P -0.937 T 0.0 T 0.001 T Pathogenic 7_73969564_C->T 7 73969564 73969564 C T snp 257.77 0/1 99 25 14 11 0.44 intronic GTF2IRD1 AU NM_016328 exon18 c.47143+11C>T 0.0852636 0.3165 0.003998 0.0386 0.2932 Uncertain 7_74167356_A->T 7 74167356 74167356 A T snp 715.77 1/1 63 44 2 42 0.95 intronic GTF2I AU NM_001163636 exon28 c.63963-69A>T Uncertain 7_74193668_G->A 7 74193668 74193668 G A snp 1211.77 1/1 90 51 1 50 0.98 exonic NCF1 AR nonsynonymous SNV NM_000265 exon4 c.G295A p.G99S 0.63119 0.5873 0.4984 0.4197 0.33 T 0.0 P -1.054 T 0.007 T 0.003 T Pathogenic 7_74197598_T->A 7 74197598 74197598 T A snp 691.77 1/1 51 35 0 35 1.0 intronic NCF1 AR NM_000265 exon6 c.9026+194T>A 0.809505 0.9524 0.8343 0.8660 Uncertain 7_74524986_G->A 7 74524986 74524986 G A snp 210.77 0/1 99 32 22 10 0.31 intronic rs142604065 GTF2IRD2B AU NM_001003795 exon2 c.99+131G>A Uncertain 7_74536840_T->- 7 74536840 74536840 T - indel 61.73 0/1 49 11 4 7 0.64 intronic rs370302219 GTF2IRD2B AU NM_001003795 exon4 c.12055+29delT 0.3614 0.4312 Uncertain 7_75022495_T->C 7 75022495 75022495 T C snp 35.74 1/1 6 2 0 2 1.0 intergenic rs587609461 STAG3L1 AU 0.000798722 0.004 Uncertain 7_75044385_C->T 7 75044385 75044385 C T snp 1030.77 1/1 75 43 0 43 1.0 ncRNA_intronic rs236649 NSUN5P1 AU 0.997604 0.995 Uncertain 7_75051189_G->C 7 75051189 75051189 G C snp 335.77 0/1 99 55 39 16 0.29 exonic rs171040 POM121C AU synonymous SNV NM_001099415 exon13 c.C2346G p.S782S 0.00339457 0.004 0.0086 0.0101 Uncertain 7_75051207_T->C 7 75051207 75051207 T C snp 322.77 0/1 99 62 45 17 0.27 exonic rs236662 POM121C AU synonymous SNV NM_001099415 exon13 c.A2328G p.G776G 0.0263578 0.0298 0.0194 0.0171 Uncertain 7_75051368_T->C 7 75051368 75051368 T C snp 353.77 0/1 99 37 24 13 0.35 exonic rs398003 POM121C AU nonsynonymous SNV NM_001099415 exon13 c.A2167G p.T723A 0.128794 0.1528 0.1164 0.1731 1 T 0.059 P -0.951 T 0.0 T 0.0 T Pathogenic 7_75051375_T->C 7 75051375 75051375 T C snp 361.77 0/1 99 33 21 12 0.36 exonic rs398016 POM121C AU synonymous SNV NM_001099415 exon13 c.A2160G p.P720P 0.289137 0.2589 0.340178 0.4161 0.2530 Uncertain 7_75115226_G->A 7 75115226 75115226 G A snp 759.77 1/1 54 32 0 32 1.0 UTR5 rs55838432 POM121C AU 0.451078 0.8581 Uncertain 7_75168764_G->T 7 75168764 75168764 G T snp 1115.77 0/1 99 106 56 50 0.47 intronic HIP1 AD NM_001243198 exon2 c.1259+13G>T 0.261781 0.4623 0.147624 0.2177 0.4822 Uncertain 7_75168788_G->T 7 75168788 75168788 G T snp 758.77 0/1 99 75 44 31 0.41 intronic HIP1 AD NM_001243198 exon2 c.1259+37G>T 0.261781 0.4613 0.147624 0.2180 0.4813 Uncertain 7_75171222_C->G 7 75171222 75171222 C G snp 994.77 0/1 99 87 40 47 0.54 intronic HIP1 AD NM_001243198 exon3 c.3745-15C>G 0.000798722 0.004 0.0002 0.0027 Uncertain 7_75171427_C->G 7 75171427 75171427 C G snp 80.77 0/1 99 7 4 3 0.43 intronic HIP1 AD NM_001243198 exon3 c.3807+128C>G 0.208466 0.4454 Uncertain 7_75171438_G->A 7 75171438 75171438 G A snp 43.77 0/1 72 4 2 2 0.5 intronic HIP1 AD NM_001243198 exon3 c.3807+139G>A 0.355431 0.6389 Uncertain 7_75176196_G->A 7 75176196 75176196 G A snp 180.77 0/1 99 13 7 6 0.46 intronic HIP1 AD NM_005338 exon7 c.8744-40G>A 0.685503 0.6687 0.666045 0.6409 0.7014 Uncertain 7_75176385_A->C 7 75176385 75176385 A C snp 1304.77 0/1 99 106 50 56 0.53 intronic HIP1 AD NM_005338 exon7 c.8838+55A>C 0.321685 0.6448 0.215068 Uncertain 7_75183403_A->G 7 75183403 75183403 A G snp 520.77 0/1 99 42 21 21 0.5 intronic HIP1 AD NM_001243198 exon9 c.15919-8A>G 0.675919 0.6726 0.643780 0.6247 0.7135 Uncertain 7_75240915_C->T 7 75240915 75240915 C T snp 518.77 0/1 99 31 15 16 0.52 intronic rs7794510 HIP1 AD NM_001243198 exon28 c.61073+12350C>T 0.280351 0.1915 Uncertain 7_75368135_C->G 7 75368135 75368135 C G snp 704.77 0/1 99 101 67 34 0.34 exonic HIP1 AD nonsynonymous SNV NM_005338 exon1 c.G104C p.S35T 0.0121805 0.0565 0.0082 0.0881 0.39 T 0.924 D -1.010 T 0.001 T 0.001 T Pathogenic 7_75398998_A->C 7 75398998 75398998 A C snp 1026.77 0/1 99 143 96 47 0.33 UTR3 CCL26 AU 0.278554 0.1359 0.292647 0.2508 0.1225 ID=CR066323;DIS=Asthma, association with;TAG=DP;PUB=15207712 DP Uncertain 7_75401418_G->A 7 75401418 75401418 G A snp 543.77 0/1 99 47 27 20 0.43 splicing CCL26 AU NM_006072 exon3 c.2411-3G>A 0.239217 0.247 0.193350 0.2754 0.3709 Pathogenic 7_75441108_C->T 7 75441108 75441108 C T snp 2941.77 1/1 99 113 0 113 1.0 downstream CCL24 AU 0.482428 0.748 0.401123 0.4853 0.7769 Uncertain 7_75441111_G->T 7 75441111 75441111 G T snp 3082.77 1/1 99 116 0 116 1.0 downstream CCL24 AU 0.482827 0.748 0.401507 0.4849 0.7773 Uncertain 7_75442587_A->G 7 75442587 75442587 A G snp 902.77 1/1 66 32 0 32 1.0 intronic CCL24 AU NM_002991 exon2 c.1510-36A>G 0.407748 0.6895 0.280409 0.3390 0.6846 Uncertain 7_75442730_T->G 7 75442730 75442730 T G snp 1904.77 1/1 99 79 0 79 1.0 exonic CCL24 AU nonsynonymous SNV NM_002991 exon2 c.A85C p.I29L 0.346046 0.5595 0.227203 0.2748 0.5610 0.52 T 0.0 P -0.977 T 0.004 T 0.01 T Pathogenic 7_75442759_G->A 7 75442759 75442759 G A snp 1842.77 1/1 99 70 0 70 1.0 intronic CCL24 AU NM_002991 exon2 c.1628+18G>A 0.355631 0.6329 0.224896 0.2935 0.6501 Uncertain 7_75442855_A->G 7 75442855 75442855 A G snp 1297.77 1/1 96 36 0 36 1.0 intronic CCL24 AU NM_002991 exon3 c.1847-105A>G 0.49401 0.6964 Uncertain 7_75513062_A->G 7 75513062 75513062 A G snp 5231.77 1/1 99 206 1 205 1.0 exonic RHBDD2 AU synonymous SNV NM_001040456 exon3 c.A633G p.A211A 0.986621 1 0.971970 0.9677 0.9999 0.000 P -1.062 T Likely benign 7_75609677_A->G 7 75609677 75609677 A G snp 2672.77 0/1 99 227 119 108 0.48 exonic POR AR,AU synonymous SNV NM_000941 exon5 c.A387G p.P129P 0.249401 0.4504 0.193616 0.2659 0.4688 1.000 P -1.006 T Likely benign 7_75610763_G->A 7 75610763 75610763 G A snp 2213.77 1/1 99 77 0 77 1.0 intronic POR AR,AU NM_000941 exon7 c.27524-71G>A 0.809505 0.8363 Uncertain 7_75611355_C->T 7 75611355 75611355 C T snp 219.77 0/1 99 15 8 7 0.47 intronic POR AR,AU NM_000941 exon8 c.28231-186C>T 0.507388 0.4633 Uncertain 7_75611756_C->T 7 75611756 75611756 C T snp 254.77 0/1 99 22 13 9 0.41 intronic POR AR,AU NM_000941 exon8 c.28330+116C>T 0.28734 0.3681 Uncertain 7_75612770_C->G 7 75612770 75612770 C G snp 971.77 1/1 72 28 0 28 1.0 intronic POR AR,AU NM_000941 exon9 c.29527-67C>G 0.811302 0.8393 Uncertain 7_75612783_G->A 7 75612783 75612783 G A snp 1274.77 1/1 93 38 0 38 1.0 intronic POR AR,AU NM_000941 exon9 c.29527-54G>A 0.811102 0.8393 Uncertain 7_75612803_C->T 7 75612803 75612803 C T snp 445.77 0/1 99 51 31 20 0.39 intronic POR AR,AU NM_000941 exon9 c.29527-34C>T 0.27496 0.3681 0.242434 0.3013 0.3819 Uncertain 7_75613998_C->T 7 75613998 75613998 C T snp 368.77 0/1 99 23 11 12 0.52 intronic POR AR,AU NM_000941 exon11 c.30784-96C>T 0.504792 0.4583 Uncertain 7_75614029_T->C 7 75614029 75614029 T C snp 1767.77 1/1 99 48 0 48 1.0 intronic POR AR,AU NM_000941 exon11 c.30784-65T>C 0.811901 0.8442 Uncertain 7_75614082_C->G 7 75614082 75614082 C G snp 4127.77 1/1 99 152 0 152 1.0 intronic rs4732516 POR AR,AU NM_000941 exon11 c.30784-12C>G 0.811901 0.8442 0.852710 0.9091 0.8575 CLINSIG=non-pathogenic;CLNDBN=not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000127582.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Uncertain 7_75614288_C->T 7 75614288 75614288 C T snp 3241.77 0/1 99 240 100 140 0.58 intronic POR AR,AU NM_000941 exon11 c.30966+12C>T 0.304313 0.4206 0.268703 0.3082 0.4342 Uncertain 7_75614296_G->A 7 75614296 75614296 G A snp 3255.77 0/1 99 250 110 140 0.56 intronic POR AR,AU NM_000941 exon11 c.30966+20G>A 0.299521 0.4216 0.262777 0.3053 0.4291 Uncertain 7_75614777_G->A 7 75614777 75614777 G A snp 318.77 0/1 86 14 3 11 0.79 intronic POR AR,AU NM_000941 exon13 c.31586-119G>A 0.175919 0.2579 Uncertain 7_75614863_T->C 7 75614863 75614863 T C snp 2040.77 1/1 99 70 0 70 1.0 intronic POR AR,AU NM_000941 exon13 c.31586-33T>C 0.812101 0.8442 0.463925 0.9015 0.8415 Uncertain 7_75614864_G->T 7 75614864 75614864 G T snp 1951.77 1/1 99 70 0 70 1.0 intronic POR AR,AU NM_000941 exon13 c.31586-32G>T 0.811102 0.8393 0.461015 0.9019 0.8364 Uncertain 7_75614953_T->C 7 75614953 75614953 T C snp 3518.77 1/1 99 132 0 132 1.0 exonic rs2228104 POR AR,AU synonymous SNV NM_000941 exon13 c.T1455C p.A485A 0.835264 0.8472 0.872903 0.9226 0.8582 1.000 P -1.034 T CLINSIG=non-pathogenic;CLNDBN=not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000127583.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Likely benign 7_75615006_C->T 7 75615006 75615006 C T snp 1380.77 0/1 99 131 74 57 0.44 exonic POR AR,AU nonsynonymous SNV NM_000941 exon13 c.C1508T p.A503V 0.286142 0.374 0.236736 0.3639 0.4472 0.29 T 0.0 P -1.038 T 0.001 T 0.0 T ID=CM057356;DIS=Altered enzyme activity;TAG=DFP;PUB=16467261 DFP Pathogenic 7_75616818_GACA->- 7 75616818 75616821 GACA - indel 7763.73 1/1 99 129 0 129 1.0 intronic TMEM120A AU NM_031925 exon3 c.366-37_366-34delGACA 0.971845 1 0.970296 0.9918 1 Uncertain 7_75621661_G->C 7 75621661 75621661 G C snp 518.77 1/1 39 13 0 13 1.0 intronic TMEM120A AU NM_031925 exon10 c.5089+83G>C 0.934904 0.8601 Uncertain 7_75621827_A->G 7 75621827 75621827 A G snp 1137.77 1/1 81 44 0 44 1.0 exonic TMEM120A AU unknown 1 1 1.0000 1 Uncertain 7_75621979_T->C 7 75621979 75621979 T C snp 263.8 1/1 21 8 0 8 1.0 intronic TMEM120A AU NM_031925 exon11 c.5386+104T>C 0.992812 1 Uncertain 7_75624023_A->G 7 75624023 75624023 A G snp 227.84 1/1 18 7 0 7 1.0 upstream TMEM120A AU 0.979034 1 Uncertain 7_75629778_T->C 7 75629778 75629778 T C snp 3017.77 1/1 99 114 0 114 1.0 intronic STYXL1 AU NM_016086 exon2 c.4422-429T>C 0.847244 0.8214 0.8639 0.8485 Uncertain 7_75630183_C->T 7 75630183 75630183 C T snp 779.77 0/1 99 48 21 27 0.56 intronic STYXL1 AU NM_016086 exon2 c.4422-24C>T 0.197484 0.2579 0.169460 0.1991 0.2937 Uncertain 7_75630274_T->C 7 75630274 75630274 T C snp 2086.77 0/1 99 175 86 89 0.51 exonic STYXL1 AU synonymous SNV NM_016086 exon8 c.A744G p.Q248Q 0.623802 0.5585 0.694602 0.6783 0.5612 Uncertain 7_75633209_T->C 7 75633209 75633209 T C snp 1749.77 1/1 99 62 0 62 1.0 intronic STYXL1 AU NM_016086 exon3 c.7388+36T>C 0.836062 0.8165 0.876595 0.8811 0.8547 Uncertain 7_75643313_C->T 7 75643313 75643313 C T snp 854.77 1/1 63 28 0 28 1.0 intronic rs7798794 STYXL1 AU NM_016086 exon5 c.17420+108C>T 0.984625 1 Uncertain 7_75657850_A->G 7 75657850 75657850 A G snp 482.77 0/1 99 23 9 14 0.61 intronic STYXL1 AU NM_016086 exon7 c.32174-109A>G 0.193091 0.2579 Uncertain 7_75658197_C->T 7 75658197 75658197 C T snp 560.77 0/1 99 44 23 21 0.48 intronic STYXL1 AU NM_016086 exon7 c.32236+176C>T 0.453474 0.3929 Uncertain 7_75659815_T->C 7 75659815 75659815 T C snp 1714.77 0/1 99 145 68 77 0.53 exonic rs1044483 STYXL1 AU synonymous SNV NM_016086 exon2 c.A27G p.P9P 0.465056 0.3929 0.570737 0.5993 0.4009 Uncertain 7_75677430_C->G 7 75677430 75677430 C G snp 2270.77 1/1 99 86 0 86 1.0 UTR5 MDH2 AU 0.972444 1 0.974476 0.9894 1 Uncertain 7_75677504_C->T 7 75677504 75677504 C T snp 635.77 0/1 99 60 33 27 0.45 exonic MDH2 AU nonsynonymous SNV NM_005918 exon1 c.C26T p.A9V 0.522165 0.6071 0.391490 0.4454 0.682 0.34 T 0.0 P -0.984 T 0.0 T 0.0 T Pathogenic 7_75677578_G->T 7 75677578 75677578 G T snp 356.77 0/1 99 25 11 14 0.56 intronic MDH2 AU NM_005918 exon1 c.66+34G>T 0.194489 0.2599 0.129722 0.2206 0.3202 Uncertain 7_75692927_C->T 7 75692927 75692927 C T snp 864.77 0/1 99 69 30 39 0.57 intronic MDH2 AU NM_001282404 exon5 c.5622+17C>T 0.547923 0.6071 0.440181 0.4059 0.6007 Uncertain 7_75693009_C->T 7 75693009 75693009 C T snp 189.77 0/1 99 11 5 6 0.55 intronic MDH2 AU NM_001282404 exon5 c.5622+99C>T 0.548123 0.6071 Uncertain 7_75693963_T->C 7 75693963 75693963 T C snp 195.77 0/1 91 9 3 6 0.67 intronic MDH2 AU NM_001282404 exon7 c.6831-156T>C 0.547923 0.6071 Uncertain 7_75694079_T->G 7 75694079 75694079 T G snp 566.77 0/1 99 46 26 20 0.43 intronic MDH2 AU NM_001282404 exon7 c.6831-40T>G 0.547923 0.6071 0.406784 0.4271 0.6122 Uncertain 7_75694346_C->- 7 75694346 75694346 C - indel 857.73 0/1 99 55 28 27 0.49 intronic rs3214335 MDH2 AU NM_001282404 exon7 c.6983+75delC 0.452476 0.3929 Uncertain 7_75747241_T->C 7 75747241 75747241 T C snp 230.77 0/1 99 14 5 9 0.64 intergenic MDH2 AU 0.514976 0.6071 Uncertain 7_75806299_A->G 7 75806299 75806299 A G snp 763.77 0/1 99 66 38 28 0.42 intergenic MDH2 AU 0.721246 0.6419 Uncertain 7_75877354_A->G 7 75877354 75877354 A G snp 137.77 0/1 99 18 11 7 0.39 intronic SRRM3 AU NM_001110199 exon3 c.13121-151A>G 0.396366 0.6101 Uncertain 7_75889151_-->C 7 75889151 75889151 - C indel 140.73 0/1 99 12 6 6 0.5 intronic rs150272766 SRRM3 AU NM_001110199 exon4 c.24839-72insC 0.266773 0.4405 Uncertain 7_75889184_T->C 7 75889184 75889184 T C snp 491.77 0/1 99 39 20 19 0.49 intronic SRRM3 AU NM_001110199 exon4 c.24839-39T>C 0.267971 0.4415 0.219902 0.2528 0.4646 Uncertain 7_75894946_G->A 7 75894946 75894946 G A snp 180.77 0/1 99 17 8 9 0.53 intronic rs6465068 SRRM3 AU NM_001110199 exon10 c.30402+160G>A 0.517372 0.6111 Uncertain 7_75896466_A->G 7 75896466 75896466 A G snp 329.77 0/1 99 25 12 13 0.52 intronic rs6955911 SRRM3 AU NM_001110199 exon11 c.32191-109A>G 0.432109 0.6071 Uncertain 7_75896535_C->T 7 75896535 75896535 C T snp 1078.77 0/1 99 91 40 51 0.56 intronic rs6974346 SRRM3 AU NM_001110199 exon11 c.32191-40C>T 0.134385 0.255 0.100691 0.1164 0.2868 Uncertain 7_75911166_C->A 7 75911166 75911166 C A snp 79.77 0/1 99 18 11 7 0.39 intronic rs190420597 SRRM3 AU NM_001110199 exon12 c.46736+46C>A 0.0078 0.1667 Uncertain 7_75914934_-->C 7 75914934 75914934 - C indel 776.73 1/1 60 20 0 20 1.0 exonic rs11402364 SRRM3 AU frameshift insertion NM_001291831 exon16 c.1815dupC p.R605fs 0.9998 0.999 0.999436 1.0000 1 Pathogenic 7_75959188_G->A 7 75959188 75959188 G A snp 2652.77 0/1 99 234 126 108 0.46 exonic rs2072435 YWHAG AU synonymous SNV NM_012479 exon2 c.C450T p.S150S 0.3125 0.4454 0.290943 0.2910 0.4351 Uncertain 7_75959665_T->C 7 75959665 75959665 T C snp 413.77 0/1 99 32 15 17 0.53 intronic rs78533137 YWHAG AU NM_012479 exon1 c.657+115T>C 0.0203674 0.0962 Uncertain 7_76022704_C->T 7 76022704 76022704 C T snp 307.77 0/1 99 20 8 12 0.6 intronic rs570389527 SSC4D AU NM_080744 exon3 c.3346-17C>T 0.000399361 0.002 0.0008 0.0079 Uncertain 7_76023029_T->C 7 76023029 76023029 T C snp 821.77 0/1 99 67 33 34 0.51 exonic rs10261314 SSC4D AU synonymous SNV NM_080744 exon9 c.A1026G p.G342G 0.572883 0.5694 0.348481 0.5812 0.6818 Uncertain 7_76023084_C->T 7 76023084 76023084 C T snp 421.77 0/1 99 39 19 20 0.51 intronic rs62476799 SSC4D AU NM_080744 exon3 c.3658+51C>T 0.198083 0.3026 0.5839 0.5833 Uncertain 7_76023088_-->G 7 76023088 76023088 - G indel 1535.73 1/1 99 41 0 41 1.0 intronic rs140509712 SSC4D AU NM_080744 exon3 c.3658+55insG 0.9998 1 0.999575 Uncertain 7_76023131_-->G 7 76023131 76023131 - G indel 2118.73 1/1 99 53 0 53 1.0 intronic rs35508921 SSC4D AU NM_080744 exon4 c.3771-15insG 1 1 0.999679 0.9999 0.9998 Uncertain 7_76027235_T->C 7 76027235 76027235 T C snp 327.77 0/1 99 22 10 12 0.55 intronic rs6963070 SSC4D AU NM_080744 exon6 c.7774+86T>C 0.576478 0.5694 Uncertain 7_76029695_C->T 7 76029695 76029695 C T snp 2497.77 0/1 99 223 115 108 0.48 exonic rs4728712 SSC4D AU nonsynonymous SNV NM_080744 exon4 c.G383A p.R128H 0.189097 0.2421 0.163667 0.2209 0.2608 0.49 T 0.567 P -1.021 T 0.003 T 0.004 T Pathogenic 7_76033906_T->C 7 76033906 76033906 T C snp 55.77 0/1 84 11 8 3 0.27 intronic rs11760779 SSC4D AU NM_080744 exon10 c.14447+84T>C 0.45647 0.4395 Uncertain 7_76058767_G->T 7 76058767 76058767 G T snp 2552.77 0/1 99 189 82 107 0.57 intronic rs6465128 ZP3 AU NM_001110354 exon2 c.4550-64G>T 0.651158 0.5248 0.6204 0.5743 Uncertain 7_76062441_-->TTGGTTGGTTTTGGTTGGTTTTGG 7 76062441 76062441 - TTGGTTGGTTTTGGTTGGTTTTGG indel 1324.73 0/1 99 35 13 22 0.63 intronic ZP3 AU NM_001110354 exon3 c.8066+94insTTGGTTGGTTTTGGTTGGTTTTGG Uncertain 7_76069481_G->A 7 76069481 76069481 G A snp 42.77 0/1 70 7 4 3 0.43 intronic rs77258242 ZP3 AU NM_001110354 exon6 c.15285-85G>A Uncertain 7_76069486_G->A 7 76069486 76069486 G A snp 36.77 0/1 65 10 6 4 0.4 intronic rs80209248 ZP3 AU NM_001110354 exon6 c.15285-80G>A Uncertain 7_76069811_T->C 7 76069811 76069811 T C snp 1955.77 0/1 99 247 133 114 0.46 exonic rs2906999 ZP3 AU nonsynonymous SNV NM_001110354 exon7 c.T943C p.S315P 0.591054 0.5427 0.537829 0.5636 0.5864 0.92 T 0.0 P -0.958 T 0.0 T 0.0 T Pathogenic 7_76111835_G->A 7 76111835 76111835 G A snp 552.77 0/1 99 84 61 23 0.27 exonic rs4236506 DTX2 AU synonymous SNV NM_001102596 exon2 c.G279A p.R93R 0.225639 0.2302 0.202137 0.2463 0.2576 Uncertain 7_76112060_C->T 7 76112060 76112060 C T snp 2202.77 0/1 99 175 84 91 0.52 exonic rs1638074 DTX2 AU synonymous SNV NM_001102596 exon2 c.C504T p.F168F 0.589657 0.5526 0.547824 0.5448 0.5925 Uncertain 7_76112249_A->C 7 76112249 76112249 A C snp 122.77 0/1 99 165 141 24 0.15 exonic rs147779783 DTX2 AU synonymous SNV NM_001102596 exon2 c.A693C p.P231P 0.1205 0.0522 Uncertain 7_76112518_C->T 7 76112518 76112518 C T snp 70.77 0/1 99 16 8 8 0.5 intronic rs2430309 DTX2 AU NM_001102595 exon3 c.2638+54C>T Uncertain 7_76129364_G->C 7 76129364 76129364 G C snp 101.28 1/1 9 5 1 4 0.8 intronic rs2262041 DTX2 AU NM_001102595 exon6 c.19931-393G>C Uncertain 7_76131586_G->A 7 76131586 76131586 G A snp 495.77 0/1 99 40 21 19 0.47 intronic rs2690683 DTX2 AU NM_001102595 exon7 c.21788-28G>A 0.5066 0.4587 Uncertain 7_76131645_A->G 7 76131645 76131645 A G snp 2013.77 1/1 99 71 0 71 1.0 exonic rs6979487 DTX2 AU nonsynonymous SNV NM_001102596 exon5 c.A1120G p.T374A 0.816094 0.9454 0.7506 0.9425 1 T 0.0 P -0.924 T 0.0 T 0.002 T Pathogenic 7_76131650_G->A 7 76131650 76131650 G A snp 983.77 0/1 99 76 34 42 0.55 exonic rs6958774 DTX2 AU synonymous SNV NM_001102596 exon5 c.G1125A p.A375A 0.3283 0.3537 Uncertain 7_76131695_A->G 7 76131695 76131695 A G snp 2036.77 1/1 99 81 0 81 1.0 exonic rs4728775 DTX2 AU synonymous SNV NM_001102596 exon5 c.A1170G p.L390L 0.686102 0.8095 0.612265 0.6711 0.8101 Uncertain 7_76131764_C->T 7 76131764 76131764 C T snp 774.77 0/1 99 46 18 28 0.61 exonic rs369195858 DTX2 AU synonymous SNV NM_001102596 exon5 c.C1239T p.N413N 0.000199681 0.000077 0.0003 0.0005 Uncertain 7_76131812_C->G 7 76131812 76131812 C G snp 292.77 0/1 99 18 9 9 0.5 intronic rs6963784 DTX2 AU NM_001102595 exon7 c.21947+39C>G 0.339657 0.4425 0.330684 0.3819 0.4137 Uncertain 7_76132898_T->C 7 76132898 76132898 T C snp 673.77 0/1 99 89 53 36 0.4 exonic rs17855260 DTX2 AU synonymous SNV NM_001102596 exon6 c.T1404C p.G468G 0.356829 0.4425 0.348800 0.3771 0.3982 Uncertain 7_76132962_A->G 7 76132962 76132962 A G snp 888.77 1/1 69 34 0 34 1.0 intronic rs2690526 DTX2 AU NM_001102595 exon8 c.23078+58A>G 0.564297 0.6736 Uncertain 7_76133783_G->C 7 76133783 76133783 G C snp 86.03 1/1 12 7 0 7 1.0 intronic rs140421863 DTX2 AU NM_001102595 exon9 c.23936+21G>C 0.975839 0.999 0.0106 . Uncertain 7_76135134_G->A 7 76135134 76135134 G A snp 1308.77 0/1 99 100 42 58 0.58 UTR3 rs7398 DTX2 AU 0.339058 0.4425 0.3737 0.4896 Uncertain 7_76140186_T->C 7 76140186 76140186 T C snp 381.77 0/1 99 55 34 21 0.38 exonic rs12666503 UPK3B AU nonsynonymous SNV NM_030570 exon1 c.T217C p.S73P 0.209265 0.4256 0.141944 0.2529 0.4724 0.14 T 0.000 P -0.996 T 0.002 T 0.005 T Pathogenic 7_76140449_C->T 7 76140449 76140449 C T snp 143.03 1/1 12 5 0 5 1.0 intronic rs145740550 UPK3B AU NM_182683 exon2 c.400+80C>T 0.778554 0.9286 Uncertain 7_76140451_C->T 7 76140451 76140451 C T snp 46.77 0/1 72 5 2 3 0.6 intronic rs62476499 UPK3B AU NM_182683 exon2 c.400+82C>T 0.235024 0.2252 Uncertain 7_76142536_G->A 7 76142536 76142536 G A snp 1720.77 0/1 99 112 42 70 0.63 intronic rs2286988 UPK3B AU NM_182684 exon4 c.2511+56G>A 0.389976 0.4435 0.387621 Uncertain 7_76144455_A->C 7 76144455 76144455 A C snp 4728.77 1/1 99 179 0 179 1.0 exonic rs1799125 UPK3B AU nonsynonymous SNV NM_182684 exon6 c.A765C p.R255S 0.989617 1 0.986891 0.9962 0.9983 1 T 0.0 P -0.959 T 0.0 T 0.0 T Pathogenic 7_76144483_A->G 7 76144483 76144483 A G snp 1363.77 0/1 99 156 91 65 0.42 exonic rs1636632 UPK3B AU nonsynonymous SNV NM_030570 exon4 c.A878G p.Q293R 0.340855 0.4425 0.329661 0.3960 0.4300 1 T 0.0 P -0.967 T 0.0 T 0.0 T Pathogenic 7_76144560_T->C 7 76144560 76144560 T C snp 1556.77 1/1 99 46 0 46 1.0 exonic rs1799126 UPK3B AU nonsynonymous SNV NM_030570 exon4 c.T955C p.W319R 0.989217 0.999 0.986257 0.9956 1 1 T 0.0 P -0.939 T 0.0 T 0.0 T Pathogenic 7_76144592_C->T 7 76144592 76144592 C T snp 132.77 0/1 99 15 9 6 0.4 UTR3 rs191601768 UPK3B AU 0.000998403 0.005 0.000156 0.0015 0.0183 Uncertain 7_76239480_C->A 7 76239480 76239480 C A snp 823.77 0/1 99 164 110 54 0.33 ncRNA_intronic rs711306 LOC100133091 AU 0.544728 0.4256 0.5571 0.4411 Uncertain 7_76239503_-->C 7 76239503 76239503 - C indel 1357.73 0/1 99 112 63 49 0.44 ncRNA_intronic rs140446540 LOC100133091 AU 0.544728 0.4246 0.594015 0.5590 0.4442 Uncertain 7_76239703_T->A 7 76239703 76239703 T A snp 186.77 0/1 99 21 12 9 0.43 ncRNA_intronic rs1799146 LOC100133091 AU 0.651757 0.5625 Uncertain 7_76240677_T->G 7 76240677 76240677 T G snp 257.77 0/1 99 14 4 10 0.71 ncRNA_intronic rs1799211 LOC100133091 AU 0.589457 0.4196 Uncertain 7_76240786_A->- 7 76240786 76240786 A - indel 2032.73 0/1 99 96 44 52 0.54 exonic rs71819724 POMZP3 AU frameshift deletion NM_012230 exon6 c.560delT p.L187fs 0.517971 0.4246 0.541292 0.5021 0.4308 Pathogenic 7_76240888_A->G 7 76240888 76240888 A G snp 1772.77 0/1 99 250 135 115 0.46 exonic rs1134609 POMZP3 AU nonsynonymous SNV NM_012230 exon6 c.T458C p.L153P 0.545727 0.4415 0.433940 0.5229 0.4365 1 T 0.0 P -0.917 T 0.0 T 0.0 T Pathogenic 7_76255019_T->C 7 76255019 76255019 T C snp 1808.77 0/1 99 163 85 78 0.48 ncRNA_intronic rs56046726 LOC100133091 AU 0.188299 0.2272 0.167000 0.2139 0.2561 Uncertain 7_76255061_T->C 7 76255061 76255061 T C snp 933.77 0/1 99 80 42 38 0.47 ncRNA_intronic rs41278779 LOC100133091 AU 0.198482 0.2272 Uncertain 7_76255084_A->G 7 76255084 76255084 A G snp 539.77 0/1 99 48 28 20 0.42 ncRNA_intronic rs1754228 LOC100133091 AU 0.204473 0.2232 Uncertain 7_76255440_G->A 7 76255440 76255440 G A snp 2075.77 0/1 99 198 104 94 0.47 ncRNA_exonic rs62476698 LOC100133091 AU 0.198482 0.2272 Uncertain 7_76255452_G->A 7 76255452 76255452 G A snp 2137.77 0/1 99 205 109 96 0.47 ncRNA_exonic rs1064143 LOC100133091 AU 0.589856 0.4256 Uncertain 7_76255933_C->T 7 76255933 76255933 C T snp 51.77 0/1 80 14 11 3 0.21 ncRNA_exonic rs2006267 LOC100133091 AU 0.188099 0.2262 Uncertain 7_76265667_C->T 7 76265667 76265667 C T snp 304.77 0/1 99 38 21 17 0.45 intergenic rs200261184 LOC100133091 AU 0.198482 0.2282 Uncertain 7_76265825_C->T 7 76265825 76265825 C T snp 329.77 0/1 99 36 15 21 0.58 intergenic rs202244494 LOC100133091 AU 0.250599 0.2292 Uncertain 7_76265872_C->T 7 76265872 76265872 C T snp 190.77 0/1 99 21 10 11 0.52 intergenic rs367660224 LOC100133091 AU 0.189297 0.2282 Uncertain 7_76607938_C->T 7 76607938 76607938 C T snp 152.77 0/1 99 11 5 6 0.55 intergenic rs56083327 LOC100133091 AU 0.660743 0.3938 Uncertain 7_76608143_C->T 7 76608143 76608143 C T snp 494.77 0/1 99 50 22 28 0.56 intergenic rs2245368 LOC100133091 AU 0.661342 0.3938 Uncertain 7_76609949_A->G 7 76609949 76609949 A G snp 149.78 0/1 24 6 1 5 0.83 upstream rs150026431 DTX2P1-UPK3BP1-PMS2P11 AU 0.00738818 0.0248 Uncertain 7_76610299_A->G 7 76610299 76610299 A G snp 1818.77 1/1 99 73 0 73 1.0 ncRNA_exonic rs62473743 DTX2P1-UPK3BP1-PMS2P11 AU 0.734425 0.6141 Uncertain 7_76610346_C->T 7 76610346 76610346 C T snp 398.77 0/1 99 71 35 36 0.51 ncRNA_exonic rs71552449 DTX2P1-UPK3BP1-PMS2P11 AU 0.443091 0.2619 Uncertain 7_76610407_A->G 7 76610407 76610407 A G snp 1797.77 1/1 99 76 1 75 0.99 ncRNA_exonic rs62473744 DTX2P1-UPK3BP1-PMS2P11 AU 0.758387 0.6151 Uncertain 7_76610621_T->C 7 76610621 76610621 T C snp 139.9 1/1 15 7 0 7 1.0 ncRNA_intronic rs6956966 DTX2P1-UPK3BP1-PMS2P11 AU 0.733826 0.6141 Uncertain 7_76619625_C->T 7 76619625 76619625 C T snp 210.77 0/1 99 50 38 12 0.24 ncRNA_exonic rs202046470 DTX2P1-UPK3BP1-PMS2P11 AU Uncertain 7_76619795_G->A 7 76619795 76619795 G A snp 37.77 0/1 66 8 5 3 0.38 ncRNA_intronic rs149365700 DTX2P1-UPK3BP1-PMS2P11 AU Uncertain 7_76624796_C->T 7 76624796 76624796 C T snp 670.77 0/1 86 54 20 34 0.63 ncRNA_intronic rs527335817 DTX2P1-UPK3BP1-PMS2P11 AU 0.00898562 0.0268 Uncertain 7_76624959_C->T 7 76624959 76624959 C T snp 541.77 0/1 99 49 21 28 0.57 ncRNA_intronic rs1799151 DTX2P1-UPK3BP1-PMS2P11 AU 0.386981 0.3323 Uncertain 7_76629626_G->A 7 76629626 76629626 G A snp 434.77 0/1 99 153 114 39 0.25 ncRNA_exonic rs1638152 DTX2P1-UPK3BP1-PMS2P11 AU Uncertain 7_76632736_C->G 7 76632736 76632736 C G snp 616.77 0/1 99 70 42 28 0.4 ncRNA_intronic rs3748126 DTX2P1-UPK3BP1-PMS2P11 AU 0.63758 0.378 Uncertain 7_76633640_C->A 7 76633640 76633640 C A snp 220.77 0/1 99 61 44 17 0.28 ncRNA_intronic rs2257508 DTX2P1-UPK3BP1-PMS2P11 AU Uncertain 7_76633703_T->C 7 76633703 76633703 T C snp 354.77 1/1 36 24 0 24 1.0 ncRNA_intronic rs56260706 DTX2P1-UPK3BP1-PMS2P11 AU Uncertain 7_76634026_G->A 7 76634026 76634026 G A snp 40.74 1/1 6 2 0 2 1.0 ncRNA_intronic rs140650117 DTX2P1-UPK3BP1-PMS2P11 AU 0.0211661 0.0248 Uncertain 7_76634269_G->A 7 76634269 76634269 G A snp 223.77 0/1 99 22 9 13 0.59 ncRNA_intronic rs36028884 DTX2P1-UPK3BP1-PMS2P11 AU 0.620407 0.38 Uncertain 7_76634344_C->T 7 76634344 76634344 C T snp 77.77 0/1 99 8 4 4 0.5 ncRNA_intronic rs367817989 DTX2P1-UPK3BP1-PMS2P11 AU 0.0109824 0.0278 Uncertain 7_76635003_A->T 7 76635003 76635003 A T snp 452.77 1/1 33 22 2 20 0.91 ncRNA_exonic rs2260085 DTX2P1-UPK3BP1-PMS2P11 AU 0.741813 0.6002 Uncertain 7_76635006_C->T 7 76635006 76635006 C T snp 414.77 1/1 30 21 2 19 0.9 ncRNA_exonic rs2260084 DTX2P1-UPK3BP1-PMS2P11 AU 0.739816 0.6012 Uncertain 7_76713370_A->G 7 76713370 76713370 A G snp 482.77 0/1 99 56 29 27 0.48 intergenic rs572731169 PMS2P9 AU 0.000199681 0.001 Uncertain 7_76742649_A->G 7 76742649 76742649 A G snp 1061.77 1/1 87 48 1 47 0.98 intergenic rs2539347 PMS2P9 AU Uncertain 7_76751252_C->G 7 76751252 76751252 C G snp 355.77 0/1 99 31 16 15 0.48 upstream rs3864642 CCDC146 AU 0.391773 0.4732 Uncertain 7_76751543_G->A 7 76751543 76751543 G A snp 2007.77 0/1 99 186 92 94 0.51 upstream rs4412304 CCDC146 AU 0.392173 0.4782 Uncertain 7_76751658_C->A 7 76751658 76751658 C A snp 495.77 0/1 99 28 12 16 0.57 upstream rs6962194 CCDC146 AU 0.308307 0.3125 Uncertain 7_76796928_A->G 7 76796928 76796928 A G snp 42.77 0/1 71 48 42 6 0.13 intronic rs28502738 CCDC146 AU Uncertain 7_76796958_T->G 7 76796958 76796958 T G snp 333.77 0/1 99 105 87 18 0.17 intronic rs28431858 CCDC146 AU 0.4093 0.4097 Uncertain 7_76870998_T->C 7 76870998 76870998 T C snp 2635.77 0/1 99 233 119 114 0.49 intronic rs17230010 CCDC146 AU NM_020879 exon4 c.74022-9T>C 0.0708866 0.0506 0.115946 0.1169 0.0426 Uncertain 7_76871113_A->G 7 76871113 76871113 A G snp 2825.77 0/1 99 213 92 121 0.57 exonic rs17230060 CCDC146 AU synonymous SNV NM_020879 exon4 c.A345G p.A115A 0.0704872 0.0516 0.116331 0.1165 0.0425 Uncertain 7_76883685_T->C 7 76883685 76883685 T C snp 400.77 1/1 30 17 0 17 1.0 intronic rs3114318 CCDC146 AU NM_020879 exon5 c.86837-137T>C 0.964457 0.9851 Uncertain 7_76883717_C->A 7 76883717 76883717 C A snp 325.77 0/1 93 18 4 14 0.78 intronic rs2056709 CCDC146 AU NM_020879 exon5 c.86837-105C>A 0.587061 0.5129 Uncertain 7_76883807_T->- 7 76883807 76883807 T - indel 210.73 0/1 99 26 12 14 0.54 intronic rs112665383 CCDC146 AU NM_020879 exon5 c.86837-15delT 0.1477 0.1750 Uncertain 7_76883989_C->T 7 76883989 76883989 C T snp 491.77 1/1 36 18 0 18 1.0 intronic rs3114319 CCDC146 AU NM_020879 exon5 c.86895+109C>T 0.583866 0.506 Uncertain 7_76885769_A->G 7 76885769 76885769 A G snp 1046.77 0/1 99 139 91 48 0.35 exonic rs3108428 CCDC146 AU synonymous SNV NM_020879 exon6 c.A627G p.Q209Q 0.496805 0.4554 0.567518 0.6255 0.4371 Uncertain 7_76958730_A->G 7 76958730 76958730 A G snp 4481.77 1/1 99 177 0 177 1.0 intronic rs10274222 GSAP AU NM_017439 exon11 c.18034+22A>G 0.969249 1 0.925914 0.9303 1 Uncertain 7_76959731_G->T 7 76959731 76959731 G T snp 1066.77 0/1 99 95 49 46 0.48 intronic rs3750044 GSAP AU NM_017439 exon12 c.19010+47G>T 0.252596 0.4256 0.170152 0.1557 0.4304 Uncertain 7_76959784_T->C 7 76959784 76959784 T C snp 361.77 0/1 99 28 16 12 0.43 intronic rs3750045 GSAP AU NM_017439 exon12 c.19010+100T>C 0.252796 0.4256 Uncertain 7_76959815_A->G 7 76959815 76959815 A G snp 189.77 0/1 99 13 6 7 0.54 intronic rs3750046 GSAP AU NM_017439 exon12 c.19010+131A>G 0.385383 0.4494 Uncertain 7_76978907_A->G 7 76978907 76978907 A G snp 308.03 0/1 12 10 1 9 0.9 intronic rs4729343 GSAP AU NM_017439 exon13 c.38047+186A>G 0.617812 0.5913 Uncertain 7_76984572_G->A 7 76984572 76984572 G A snp 1478.77 0/1 99 113 54 59 0.52 exonic rs2037753 GSAP AU synonymous SNV NM_017439 exon16 c.C1296T p.C432C 0.531949 0.504 0.460095 0.3974 0.5034 Uncertain 7_76984753_A->- 7 76984753 76984753 A - indel 441.73 0/1 99 64 23 41 0.64 splicing rs35161141 GSAP AU NM_017439 exon16 c.44073+6delA 0.407947 0.4187 0.4158 0.3974 Pathogenic 7_76990372_C->A 7 76990372 76990372 C A snp 104.77 0/1 99 11 7 4 0.36 intronic rs6950070 GSAP AU NM_017439 exon18 c.49544+154C>A 0.207268 0.4365 Uncertain 7_77006106_AAAAAAAG->- 7 77006106 77006113 AAAAAAAG - indel 866.73 0/1 99 16 5 11 0.69 intronic rs200280871 GSAP AU NM_017439 exon22 c.65490-58_65490-51delAAAAAAAG 0.329273 0.7163 Uncertain 7_77010683_AAAC->- 7 77010683 77010686 AAAC - indel 831.73 0/1 99 36 20 16 0.44 intronic rs146257641 GSAP AU NM_017439 exon24 c.69997+12_69997+15delAAAC 0.205471 0.4306 0.102391 0.1289 0.4392 Uncertain 7_77033937_A->G 7 77033937 77033937 A G snp 501.77 0/1 99 65 40 25 0.38 splicing rs10238020 GSAP AU NM_017439 exon29 c.93258+5A>G 0.201677 0.4097 0.100818 0.1455 0.4321 Pathogenic 7_77034016_ACTC->- 7 77034016 77034019 ACTC - indel 1103.73 0/1 99 48 27 21 0.44 intronic rs142834107 GSAP AU NM_017439 exon29 c.93258+84_93258+87delACTC 0.0279553 0.13 Uncertain 7_77035392_T->C 7 77035392 77035392 T C snp 727.77 1/1 51 32 0 32 1.0 exonic rs6949654 GSAP AU nonsynonymous SNV NM_017439 exon2 c.A140G p.H47R 0.912939 0.9226 0.893969 0.8767 0.9177 1 T 1.000 P -1.000 T 0.0 T 0.0 T Pathogenic 7_77045806_G->C 7 77045806 77045806 G C snp 54.74 1/1 6 2 0 2 1.0 ncRNA_intronic rs4727380 LOC101927243 AU 0.61881 0.6607 Uncertain 7_77240069_T->C 7 77240069 77240069 T C snp 88.77 0/1 72 8 3 5 0.63 intronic rs2302473 PTPN12 AU NM_001131008 exon10 c.27138-12T>C 0.216254 0.5863 0.066276 0.1759 0.6033 Uncertain 7_77247821_G->A 7 77247821 77247821 G A snp 2260.77 0/1 99 246 133 113 0.46 exonic rs9640663 PTPN12 AU nonsynonymous SNV NM_002835 exon12 c.G964A p.V322I 0.78734 0.9048 0.668307 0.6721 0.8980 0.55 T 0.028 P -1.020 T 0.0 T 0.002 T Pathogenic 7_77256407_A->G 7 77256407 77256407 A G snp 2915.77 0/1 99 250 136 114 0.46 exonic rs78997339 PTPN12 AU nonsynonymous SNV NM_002835 exon13 c.A1411G p.I471V 0.0127796 0.0179 0.000154 0.0123 0.0168 1 T 1 N -0.947 T 0.0 T 0.001 T Pathogenic 7_77256713_A->G 7 77256713 77256713 A G snp 3044.77 0/1 99 250 134 116 0.46 exonic rs3750050 PTPN12 AU nonsynonymous SNV NM_002835 exon13 c.A1717G p.T573A 0.365016 0.6905 0.173151 0.2612 0.7072 0.59 T 0.0 P -0.946 T 0.001 T 0.002 T Pathogenic 7_77261820_T->G 7 77261820 77261820 T G snp 403.77 0/1 99 44 26 18 0.41 intronic rs12666778 PTPN12 AU NM_001131008 exon14 c.48799+78T>G 0.375998 0.6915 Uncertain 7_77529884_T->C 7 77529884 77529884 T C snp 50.74 1/1 6 2 0 2 1.0 intronic rs848450 PHTF2 AU NM_001127357 exon4 c.60455-143T>C 0.789736 0.87 Uncertain 7_77539744_G->A 7 77539744 77539744 G A snp 2357.77 1/1 99 83 0 83 1.0 intronic rs711309 PHTF2 AU NM_001127357 exon7 c.70154+18G>A 0.423722 0.6825 0.395152 0.5006 0.6900 Uncertain 7_77552127_G->A 7 77552127 77552127 G A snp 932.77 1/1 69 28 0 28 1.0 exonic rs848486 PHTF2 AU nonsynonymous SNV NM_001127359 exon9 c.G1049A p.R350H 0.602835 0.7808 0.546760 0.6092 0.7796 0.0 P -0.991 T 0.0 T 0.0 T Pathogenic 7_77648671_G->C 7 77648671 77648671 G C snp 318.77 0/1 56 18 4 14 0.78 exonic rs13438302 MAGI2 AU synonymous SNV NM_012301 exon22 c.C4329G p.P1443P 0.41234 0.628 0.184670 0.3418 0.6649 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_multiple_submitters\x2c_no_conflicts;CLNACC=RCV000081541.4;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 7_77694740_A->G 7 77694740 77694740 A G snp 43.77 0/1 62 4 2 2 0.5 intronic rs3823797 MAGI2 AU NM_012301 exon2 c.59632-13523A>G 0.227636 0.245 Uncertain 7_77708128_TGTA->- 7 77708128 77708131 TGTA - indel 518.73 0/1 50 11 2 9 0.82 intronic rs372523961 MAGI2 AU NM_012301 exon2 c.59632-135_59632-132delTGTA 0.0383 0.0555 Uncertain 7_77756580_T->C 7 77756580 77756580 T C snp 489.77 0/1 99 52 32 20 0.38 exonic rs2074641 MAGI2 AU synonymous SNV NM_012301 exon19 c.A3357G p.L1119L 0.786542 0.5714 0.883977 0.8248 0.5804 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000117573.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 7_77756724_C->T 7 77756724 77756724 C T snp 1908.77 0/1 99 149 67 82 0.55 exonic rs7812015 MAGI2 AU synonymous SNV NM_012301 exon19 c.G3213A p.S1071S 0.786342 0.5714 0.883977 0.8244 0.5784 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000117572.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 7_77756815_G->T 7 77756815 77756815 G T snp 918.77 0/1 99 73 36 37 0.51 intronic rs9656109 MAGI2 AU NM_012301 exon4 c.108102+82G>T 0.786142 0.5714 Uncertain 7_77756849_C->T 7 77756849 77756849 C T snp 500.77 0/1 99 34 15 19 0.56 intronic rs2074642 MAGI2 AU NM_012301 exon4 c.108102+116C>T 0.786342 0.5714 Uncertain 7_77764253_G->A 7 77764253 77764253 G A snp 79.77 0/1 99 8 4 4 0.5 intronic rs1465221 MAGI2 AU NM_012301 exon6 c.115706-84G>A 0.272564 0.2054 Uncertain 7_77764591_C->A 7 77764591 77764591 C A snp 2473.77 1/1 99 90 0 90 1.0 intronic rs767682 MAGI2 AU NM_012301 exon6 c.115892+68C>A 0.81889 0.7381 Uncertain 7_77789403_A->G 7 77789403 77789403 A G snp 1161.77 0/1 99 105 55 50 0.48 exonic rs1009524 MAGI2 AU synonymous SNV NM_012301 exon16 c.T2784C p.N928N 0.126797 0.1905 0.107181 0.1177 0.1750 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000117571.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 7_78119199_A->C 7 78119199 78119199 A C snp 2289.77 1/1 99 79 0 79 1.0 intronic rs1990577 MAGI2 AU NM_012301 exon17 c.470526+42A>C 0.617212 0.7659 0.532216 0.5916 0.7646 Uncertain 7_78119221_-->AA 7 78119221 78119221 - AA indel 829.73 1/1 69 36 0 36 1.0 intronic rs3086374 MAGI2 AU NM_012301 exon17 c.470526+64insAA 0.614217 0.7569 Uncertain 7_78256626_A->G 7 78256626 78256626 A G snp 191.77 0/1 99 15 7 8 0.53 intronic rs540724556 MAGI2 AU NM_012301 exon20 c.607924+71A>G 0.000199681 0.001 Uncertain 7_79082674_G->C 7 79082674 79082674 G C snp 1648.77 0/1 99 131 61 70 0.53 ncRNA_intronic rs748033087 MAGI2-AS3 AU 9.134e-06 0.0001 Uncertain 7_80087981_A->G 7 80087981 80087981 A G snp 1619.77 1/1 99 61 0 61 1.0 downstream rs2074673 GNAT3 AU 0.47484 0.7421 0.355738 0.4773 0.7823 Uncertain 7_80088041_G->A 7 80088041 80088041 G A snp 2145.77 1/1 99 86 0 86 1.0 exonic rs2074674 GNAT3 AU synonymous SNV NM_001102386 exon8 c.C1011T p.D337D 0.467452 0.7421 0.350059 0.4539 0.7832 Uncertain 7_80091981_G->A 7 80091981 80091981 G A snp 1640.77 1/1 99 51 0 51 1.0 intronic rs799936 GNAT3 AU NM_001102386 exon3 c.3961+34G>A 0.390775 0.6597 0.276809 0.3567 0.6650 Uncertain 7_80092041_C->A 7 80092041 80092041 C A snp 383.77 1/1 30 10 0 10 1.0 intronic rs799937 GNAT3 AU NM_001102386 exon3 c.3961+94C>A 0.392173 0.6667 Uncertain 7_80141069_A->G 7 80141069 80141069 A G snp 1350.77 0/1 99 117 60 57 0.49 intronic rs10230573 GNAT3 AU NM_001102386 exon8 c.53138-55A>G 0.59365 0.7024 Uncertain 7_80276331_C->T 7 80276331 80276331 C T snp 56.74 1/1 6 2 0 2 1.0 intronic rs1527463 CD36 AR,AU NM_001127444 exon1 c.120+155C>T 0.966653 1 Uncertain 7_80285850_T->C 7 80285850 80285850 T C snp 579.77 0/1 99 36 18 18 0.5 splicing rs3173798 CD36 AR,AU NM_001127444 exon2 c.9799-5T>C 0.243411 0.4216 0.113871 0.1438 0.4179 Pathogenic 7_80290369_A->G 7 80290369 80290369 A G snp 4840.77 1/1 99 176 0 176 1.0 intronic rs3211892 CD36 AR,AU NM_001127444 exon3 c.14322-9A>G 0.918331 1 0.920344 0.9649 1 Uncertain 7_80293916_C->T 7 80293916 80293916 C T snp 452.77 0/1 99 38 19 19 0.5 intronic rs3211908 CD36 AR,AU NM_001127444 exon5 c.17757+103C>T 0.0840655 0.1815 Uncertain 7_80299113_G->A 7 80299113 80299113 G A snp 262.77 0/1 99 15 7 8 0.53 intronic rs3173803 CD36 AR,AU NM_001127444 exon7 c.23212-155G>A 0.389976 0.5159 Uncertain 7_80303353_-->AAAT 7 80303353 80303353 - AAAT indel 3851.73 0/1 99 164 97 67 0.41 exonic rs753569550 CD36 AR,AU frameshift insertion NM_001001547 exon14 c.1309_1310insAAAT p.K437fs 1.702e-05 0.0002 Pathogenic 7_80374342_A->G 7 80374342 80374342 A G snp 5835.77 1/1 99 213 0 213 1.0 exonic rs1949971 SEMA3C AU synonymous SNV NM_006379 exon18 c.T2124C p.Y708Y 0.916334 1 0.921190 0.9687 1 Uncertain 7_80374438_T->C 7 80374438 80374438 T C snp 4876.77 1/1 99 163 0 163 1.0 exonic rs1949972 SEMA3C AU synonymous SNV NM_006379 exon18 c.A2028G p.P676P 0.84405 0.7698 0.904429 0.9386 0.7667 Uncertain 7_80378148_T->C 7 80378148 80378148 T C snp 1389.77 1/1 99 45 0 45 1.0 intronic rs1405743 SEMA3C AU NM_006379 exon2 c.4004-65T>C 0.940296 1 Uncertain 7_80378175_T->C 7 80378175 80378175 T C snp 2124.77 1/1 99 74 0 74 1.0 intronic rs2886793 SEMA3C AU NM_006379 exon2 c.4004-38T>C 0.940096 1 0.938874 0.9821 1 Uncertain 7_80378319_G->C 7 80378319 80378319 G C snp 2907.77 1/1 99 105 0 105 1.0 exonic rs2272351 SEMA3C AU synonymous SNV NM_006379 exon17 c.C1737G p.V579V 0.852236 0.7679 0.915718 0.9414 0.7652 Uncertain 7_80387766_C->T 7 80387766 80387766 C T snp 1925.77 1/1 99 66 0 66 1.0 exonic rs1058425 SEMA3C AU synonymous SNV NM_006379 exon15 c.G1524A p.Q508Q 0.412141 0.4286 0.332308 0.2866 0.4072 Uncertain 7_80387949_G->A 7 80387949 80387949 G A snp 182.9 1/1 15 5 0 5 1.0 intronic rs2272353 SEMA3C AU NM_006379 exon4 c.13595+145G>A 0.10623 0.1121 Uncertain 7_80391070_C->T 7 80391070 80391070 C T snp 146.03 1/1 12 6 0 6 1.0 intronic rs10954319 SEMA3C AU NM_006379 exon5 c.16764+97C>T 0.108227 0.1171 Uncertain 7_80434944_T->C 7 80434944 80434944 T C snp 2383.77 1/1 99 97 0 97 1.0 intronic rs2272348 SEMA3C AU NM_006379 exon12 c.60745-10T>C 0.0946486 0.2312 0.021378 0.0736 0.2631 Uncertain 7_80456841_C->T 7 80456841 80456841 C T snp 1747.77 1/1 99 74 0 74 1.0 intronic rs4461841 SEMA3C AU NM_006379 exon15 c.82594+38C>T 0.944489 0.998 0.901400 0.9274 0.9986 Uncertain 7_80551688_T->C 7 80551688 80551688 T C snp 490.77 0/1 99 26 9 17 0.65 intergenic rs12154785 SEMA3C AU 0.072484 0.0655 Uncertain 7_80805493_C->G 7 80805493 80805493 C G snp 111.77 0/1 99 7 3 4 0.57 intergenic rs17154861 SEMA3C AU 0.113618 0.1528 Uncertain 7_80817269_T->C 7 80817269 80817269 T C snp 2080.77 1/1 99 73 0 73 1.0 intergenic rs327695 SEMA3C AU 0.986621 0.998 0.9624 1 Uncertain 7_81335460_C->T 7 81335460 81335460 C T snp 139.03 1/1 12 4 0 4 1.0 intronic rs5745752 HGF AR NM_000601 exon4 c.3706-142C>T 0.269768 0.3313 Uncertain 7_81339304_A->C 7 81339304 81339304 A C snp 315.77 0/1 99 38 27 11 0.29 intronic rs2074725 HGF AR NM_000601 exon6 c.7566-158A>C 0.776358 0.8819 Uncertain 7_81346685_T->C 7 81346685 81346685 T C snp 1410.77 0/1 99 189 120 69 0.37 splicing rs1800793 HGF AR NM_000601 exon8 c.14785+4T>C 0.798323 0.8839 0.753037 0.8053 0.8541 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000036551.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 7_81350208_A->G 7 81350208 81350208 A G snp 143.77 0/1 99 15 8 7 0.47 intronic rs12536657 HGF AR NM_000601 exon9 c.18267+45A>G 0.884784 0.8839 0.850769 0.8343 0.8549 Uncertain 7_81350223_G->A 7 81350223 81350223 G A snp 77.77 0/1 99 8 5 3 0.38 intronic rs10272030 HGF AR NM_000601 exon9 c.18267+60G>A 0.884585 0.8839 Uncertain 7_81355066_G->A 7 81355066 81355066 G A snp 395.77 0/1 99 41 24 17 0.41 intronic rs2887069 HGF AR NM_000601 exon10 c.23309-139G>A 0.835064 0.877 Uncertain 7_81359117_A->- 7 81359117 81359117 A - indel 221.73 0/1 99 27 11 16 0.59 intronic rs5745686 HGF AR NM_000601 exon11 c.27199+22delA 0.862819 0.8621 0.8084 0.8394 Uncertain 7_81372156_A->G 7 81372156 81372156 A G snp 548.77 0/1 99 37 18 19 0.51 intronic rs5745676 HGF AR NM_001010931 exon1 c.8-109A>G 0.863618 0.8621 Uncertain 7_81372452_A->G 7 81372452 81372452 A G snp 77.77 0/1 92 6 3 3 0.5 intronic rs2214826 HGF AR NM_001010931 exon1 c.8+187A>G 0.86901 0.8621 Uncertain 7_81374500_G->C 7 81374500 81374500 G C snp 1932.77 1/1 99 59 0 59 1.0 intronic rs4732406 HGF AR NM_000601 exon13 c.42540+64G>C 0.983826 0.998 Uncertain 7_81381326_C->T 7 81381326 81381326 C T snp 697.77 0/1 99 58 32 26 0.45 intronic rs5745646 HGF AR NM_000601 exon14 c.49539-109C>T 0.869409 0.8621 Uncertain 7_81593454_G->A 7 81593454 81593454 G A snp 1655.77 0/1 99 131 63 68 0.52 intronic rs3735517 CACNA2D1 AU NM_000722 exon6 c.13717+30G>A 0.257987 0.1994 0.255157 0.2196 0.1847 Uncertain 7_81596813_T->C 7 81596813 81596813 T C snp 208.8 0/1 21 9 1 8 0.89 intronic rs17240387 CACNA2D1 AU NM_000722 exon10 c.17204-98T>C 0.472843 0.506 Uncertain 7_81600197_A->G 7 81600197 81600197 A G snp 56.74 1/1 6 2 0 2 1.0 intronic rs37067 CACNA2D1 AU NM_000722 exon13 c.20346+144A>G 0.589058 0.5992 Uncertain 7_81601231_C->G 7 81601231 81601231 C G snp 749.77 0/1 99 51 17 34 0.67 intronic rs1229505 CACNA2D1 AU NM_000722 exon14 c.21473+51C>G 0.236422 0.2222 0.304090 0.3311 0.2339 Uncertain 7_81693768_T->C 7 81693768 81693768 T C snp 71.77 0/1 99 11 7 4 0.36 intronic rs73703113 CACNA2D1 AU NM_000722 exon31 c.113963+98T>C 0.091853 0.0893 Uncertain 7_81695857_A->G 7 81695857 81695857 A G snp 31.77 0/1 60 15 12 3 0.2 intronic rs201932919 CACNA2D1 AU NM_000722 exon32 c.116133+17A>G 0.0049 0.0107 Uncertain 7_82072832_T->A 7 82072832 82072832 T A snp 1504.77 0/1 99 115 51 64 0.56 UTR5 rs556752739 CACNA2D1 AU 0.00119808 0.006 Uncertain 7_82072958_A->G 7 82072958 82072958 A G snp 86.77 0/1 33 5 2 3 0.6 UTR5 rs6954596 CACNA2D1 AU 0.654153 0.5565 Uncertain 7_82435033_C->T 7 82435033 82435033 C T snp 657.77 0/1 99 75 45 30 0.4 exonic rs12668093 PCLO AR synonymous SNV NM_033026 exon21 c.G14904A p.G4968G 0.209465 0.2837 0.184723 0.1714 0.3050 Uncertain 7_82453708_A->C 7 82453708 82453708 A C snp 1019.77 0/1 99 92 49 43 0.47 exonic rs2522833 PCLO AR nonsynonymous SNV NM_033026 exon19 c.T14440G p.S4814A 0.402556 0.6865 0.318745 0.4431 0.6992 0 D 1.0 P -0.971 T 0.013 T 0.118 T ID=CM0911482;DIS=Major depressive disorder, association with;TAG=DP;PUB=19065144 DP Pathogenic 7_82455895_A->G 7 82455895 82455895 A G snp 2172.77 0/1 99 244 142 102 0.42 intronic rs2715150 PCLO AR NM_033026 exon8 c.68014-9A>G 0.402556 0.6865 0.322377 0.4432 0.6986 Uncertain 7_82497343_T->A 7 82497343 82497343 T A snp 3868.77 1/1 99 133 0 133 1.0 intronic rs4628206 PCLO AR NM_033026 exon16 c.120762-11309T>A 0.78115 0.6369 Uncertain 7_82508938_T->C 7 82508938 82508938 T C snp 182.9 1/1 15 5 0 5 1.0 intronic rs2371366 PCLO AR NM_033026 exon16 c.120888+160T>C 0.789137 0.6647 Uncertain 7_82544987_A->G 7 82544987 82544987 A G snp 2463.77 0/1 99 214 107 107 0.5 exonic rs17156844 PCLO AR synonymous SNV NM_033026 exon7 c.T12315C p.H4105H 0.426717 0.5466 0.280247 0.3028 0.6138 Uncertain 7_82581488_-->TCA 7 82581488 82581488 - TCA indel 9685.73 1/1 99 179 0 179 1.0 exonic rs10630259 PCLO AR nonframeshift insertion NM_033026 exon5 c.8780_8781insTGA p.E2927delinsDE 0.99401 0.996 0.986613 0.9870 0.9999 Uncertain 7_82581859_C->T 7 82581859 82581859 C T snp 2729.77 0/1 99 221 105 116 0.52 exonic rs976714 PCLO AR nonsynonymous SNV NM_033026 exon5 c.G8410A p.A2804T 0.320088 0.4405 0.287330 0.3614 0.4952 0 D 0.000 P -0.905 T 0.001 T 0.001 T Pathogenic 7_82582846_C->T 7 82582846 82582846 C T snp 1876.77 0/1 99 129 54 75 0.58 exonic rs10954696 PCLO AR nonsynonymous SNV NM_033026 exon5 c.G7423A p.V2475I 0.320288 0.4425 0.289426 0.3611 0.4965 0 D 0.999 P -0.948 T 0.001 T 0.002 T Pathogenic 7_82764425_C->G 7 82764425 82764425 C G snp 7446.77 1/1 99 249 0 249 1.0 exonic rs2877 PCLO AR nonsynonymous SNV NM_033026 exon3 c.G2441C p.S814T 0.808307 0.9931 0.689516 0.7546 0.9932 0 D 0.0 P -0.968 T 0.0 T 0.0 T Pathogenic 7_82784017_G->T 7 82784017 82784017 G T snp 1026.77 0/1 99 52 18 34 0.65 intronic rs6951239 PCLO AR NM_033026 exon24 c.396173-46G>T 0.572284 0.3919 0.656001 0.6350 0.3834 Uncertain 7_82785097_T->C 7 82785097 82785097 T C snp 1883.77 0/1 99 162 82 80 0.49 exonic rs61741659 PCLO AR nonsynonymous SNV NM_033026 exon2 c.A860G p.D287G 0.153355 0.0675 0.194064 0.1909 0.0549 0 D 1.0 P -1.009 T 0.021 T 0.013 T Pathogenic 7_83021800_AAAA->- 7 83021800 83021803 AAAA - indel 1642.73 ./1 99 60 3 57 0.95 intronic rs375518443 SEMA3E AD NM_001178129 exon4 c.24969-70_24969-67delAAAA 0.41853 0.4335 Uncertain 7_83021800_AAA->- 7 83021800 83021802 AAA - indel 1642.73 ./1 99 60 3 57 0.95 intronic rs201556609 SEMA3E AD NM_001178129 exon4 c.24969-70_24969-68delAAA 0.475839 0.5496 Uncertain 7_83023588_AC->- 7 83023588 83023589 AC - indel 1414.73 1/1 99 38 0 38 1.0 intronic rs397734534 SEMA3E AD NM_001178129 exon5 c.26711-24_26711-23delAC 0.9439 0.9667 Uncertain 7_83029280_T->G 7 83029280 83029280 T G snp 163.77 0/1 99 11 4 7 0.64 intronic rs2255906 SEMA3E AD NM_001178129 exon7 c.32442-63T>G 0.604034 0.8423 Uncertain 7_83029639_A->C 7 83029639 83029639 A C snp 701.77 0/1 99 42 13 29 0.69 intronic rs2255820 SEMA3E AD NM_001178129 exon7 c.32665+73A>C 0.264577 0.3968 Uncertain 7_83031795_A->G 7 83031795 83031795 A G snp 94.28 1/1 9 3 0 3 1.0 intronic rs2722975 SEMA3E AD NM_001178129 exon8 c.35046-152A>G 0.912141 1 Uncertain 7_83031907_T->C 7 83031907 83031907 T C snp 1120.77 1/1 81 38 0 38 1.0 intronic rs2709930 SEMA3E AD NM_001178129 exon8 c.35046-40T>C 0.973243 1 0.970212 0.9923 1 Uncertain 7_83032187_T->C 7 83032187 83032187 T C snp 32.77 0/1 61 8 6 2 0.25 intronic rs2722976 SEMA3E AD NM_001178129 exon8 c.35191+95T>C 0.604233 0.8423 Uncertain 7_83034754_T->A 7 83034754 83034754 T A snp 869.77 0/1 99 77 37 40 0.52 intronic rs2245441 SEMA3E AD NM_001178129 exon9 c.37864-11T>A 0.555112 0.8413 0.459942 0.6063 0.8785 Uncertain 7_83034899_T->G 7 83034899 83034899 T G snp 242.77 0/1 99 37 25 12 0.32 intronic rs2709935 SEMA3E AD NM_001178129 exon9 c.37934+64T>G 0.555112 0.8413 0.471748 Uncertain 7_83035177_G->A 7 83035177 83035177 G A snp 257.77 0/1 99 17 8 9 0.53 intronic rs3735512 SEMA3E AD NM_001178129 exon10 c.38359-83G>A 0.555112 0.8413 Uncertain 7_83036221_G->A 7 83036221 83036221 G A snp 82.77 0/1 28 5 1 4 0.8 intronic rs2709940 SEMA3E AD NM_001178129 exon11 c.39511-191G>A 0.555112 0.8413 Uncertain 7_83036367_C->G 7 83036367 83036367 C G snp 1128.77 0/1 99 134 79 55 0.41 intronic rs2245312 SEMA3E AD NM_001178129 exon11 c.39511-45C>G 0.555112 0.8413 0.460326 0.6058 0.8791 Uncertain 7_83036602_T->A 7 83036602 83036602 T A snp 255.77 0/1 99 18 10 8 0.44 intronic rs2709941 SEMA3E AD NM_001178129 exon11 c.39654+47T>A 0.555312 0.8413 0.460449 0.6092 0.8793 Uncertain 7_83037731_C->G 7 83037731 83037731 C G snp 1303.77 0/1 99 125 61 64 0.51 exonic rs61729612 SEMA3E AD nonsynonymous SNV NM_012431 exon6 c.G623C p.R208P 0.0976438 0.1528 0.111641 0.1132 0.1202 0.58 T 0.0 P -0.932 T 0.0 T 0.009 T Pathogenic 7_83037751_C->A 7 83037751 83037751 C A snp 1253.77 0/1 99 113 58 55 0.49 exonic rs2722985 SEMA3E AD synonymous SNV NM_012431 exon6 c.G603T p.A201A 0.55631 0.8413 0.461633 0.6078 0.8791 Uncertain 7_83047583_T->C 7 83047583 83047583 T C snp 127.78 0/1 27 7 1 6 0.86 intronic rs2723033 SEMA3E AD NM_001178129 exon13 c.50804-122T>C 0.583466 0.8373 Uncertain 7_83047585_A->C 7 83047585 83047585 A C snp 155.77 0/1 57 9 2 7 0.78 intronic rs2713146 SEMA3E AD NM_001178129 exon13 c.50804-120A>C 0.583466 0.8373 Uncertain 7_83047666_C->T 7 83047666 83047666 C T snp 650.77 0/1 99 41 15 26 0.63 intronic rs2713145 SEMA3E AD NM_001178129 exon13 c.50804-39C>T 0.583466 0.8373 0.488002 0.6356 0.8717 Uncertain 7_83047883_G->A 7 83047883 83047883 G A snp 240.77 0/1 99 27 15 12 0.44 intronic rs3801506 SEMA3E AD NM_001178129 exon13 c.50898+84G>A 0.0874601 0.1567 Uncertain 7_83095955_A->G 7 83095955 83095955 A G snp 2170.77 0/1 99 124 47 77 0.62 intronic rs7806439 SEMA3E AD NM_001178129 exon14 c.99016+38A>G 0.357228 0.2044 0.358373 0.3329 0.2184 Uncertain 7_83590852_T->C 7 83590852 83590852 T C snp 7004.77 1/1 99 250 1 249 1.0 exonic rs797821 SEMA3A AD synonymous SNV NM_006080 exon17 c.A2151G p.T717T 0.612021 0.6915 0.583577 0.6132 0.7030 Uncertain 7_83606353_-->GA 7 83606353 83606353 - GA indel 1325.73 1/1 87 30 0 30 1.0 intronic rs35361892 SEMA3A AD NM_006080 exon3 c.15761-94insGA 0.845447 0.8938 Uncertain 7_83606518_G->A 7 83606518 83606518 G A snp 1640.77 1/1 99 64 0 64 1.0 splicing rs701320 SEMA3A AD NM_006080 exon3 c.15826+6G>A 0.872005 0.8929 0.836921 0.7934 0.8973 Pathogenic 7_83631376_T->C 7 83631376 83631376 T C snp 1992.77 0/1 99 141 59 82 0.58 intronic rs3735513 SEMA3A AD NM_006080 exon6 c.40676+14T>C 0.22504 0.1548 0.229279 0.2455 0.1591 Uncertain 7_83631414_A->T 7 83631414 83631414 A T snp 1322.77 0/1 99 94 42 52 0.55 intronic rs10250165 SEMA3A AD NM_006080 exon6 c.40676+52A>T 0.22504 0.1548 0.228198 0.2424 0.1590 Uncertain 7_83631450_AAAG->- 7 83631450 83631453 AAAG - indel 1079.73 0/1 99 45 22 23 0.51 intronic rs139150410 SEMA3A AD NM_006080 exon6 c.40676+88_40676+91delAAAG 0.222045 0.1548 Uncertain 7_83634713_A->G 7 83634713 83634713 A G snp 3012.77 0/1 99 250 129 121 0.48 exonic rs7804122 SEMA3A AD synonymous SNV NM_006080 exon11 c.T1302C p.I434I 0.22524 0.1548 0.234661 0.2416 0.1544 Uncertain 7_83643681_A->T 7 83643681 83643681 A T snp 804.77 0/1 99 63 36 27 0.43 intronic rs2272222 SEMA3A AD NM_006080 exon11 c.52981+14A>T 0.467053 0.3552 0.429802 0.3772 0.3521 Uncertain 7_83643687_G->A 7 83643687 83643687 G A snp 759.77 0/1 99 61 34 27 0.44 intronic rs2272221 SEMA3A AD NM_006080 exon11 c.52981+20G>A 0.467053 0.3552 0.429549 0.3781 0.3529 Uncertain 7_83739762_T->C 7 83739762 83739762 T C snp 1408.77 0/1 99 148 87 61 0.41 intronic rs1990044 SEMA3A AD NM_006080 exon14 c.149099-23T>C 0.489816 0.7024 0.483623 0.5298 0.7078 Uncertain 7_83740015_T->C 7 83740015 83740015 T C snp 929.77 0/1 99 50 15 35 0.7 intronic rs1990045 SEMA3A AD NM_006080 exon14 c.149219+110T>C 0.479633 0.6855 Uncertain 7_83758691_C->T 7 83758691 83758691 C T snp 37.77 0/1 66 4 2 2 0.5 intronic rs7789342 SEMA3A AD NM_006080 exon15 c.167815+190C>T 0.483826 0.6835 Uncertain 7_83764309_C->G 7 83764309 83764309 C G snp 1891.77 0/1 99 134 62 72 0.54 intronic rs17241389 SEMA3A AD NM_006080 exon16 c.173581+42C>G 0.504792 0.6835 0.507304 0.5337 0.6952 Uncertain 7_84628989_T->G 7 84628989 84628989 T G snp 7141.77 1/1 99 250 2 248 0.99 exonic rs7800072 SEMA3D AU nonsynonymous SNV NM_152754 exon17 c.A2101C p.K701Q 0.285543 0.2718 0.342611 0.2874 0.2781 0.6 T 1.000 P -0.932 T 0.0 T 0.0 T Pathogenic 7_84644346_C->G 7 84644346 84644346 C G snp 1483.77 1/1 99 49 0 49 1.0 intronic rs6468008 SEMA3D AU NM_152754 exon4 c.15619-28C>G 0.658546 0.7589 0.596571 0.5684 0.7530 Uncertain 7_84647477_C->T 7 84647477 84647477 C T snp 861.77 1/1 63 32 0 32 1.0 intronic rs7780132 SEMA3D AU NM_152754 exon5 c.18812-90C>T 0.621805 0.7371 Uncertain 7_84669999_T->C 7 84669999 84669999 T C snp 836.77 0/1 99 75 37 38 0.51 exonic rs762125454 SEMA3D AU nonsynonymous SNV NM_152754 exon9 c.A1036G p.T346A 1.675e-05 0.0002 0.03 T 1 D -1.003 T 0.972 D 0.848 D Pathogenic 7_84702152_G->T 7 84702152 84702152 G T snp 50.74 1/1 6 2 0 2 1.0 intronic rs6957484 SEMA3D AU NM_152754 exon14 c.73522-125G>T 0.282947 0.1944 Uncertain 7_86274196_T->G 7 86274196 86274196 T G snp 1638.77 1/1 99 52 0 52 1.0 intronic rs274623 GRM3 AU 0.782548 0.8958 0.7946 0.9069 Uncertain 7_86274289_T->C 7 86274289 86274289 T C snp 267.8 1/1 21 7 0 7 1.0 intronic rs274624 GRM3 AU 0.809505 0.8958 Uncertain 7_86781423_G->A 7 86781423 86781423 G A snp 895.77 1/1 66 25 0 25 1.0 upstream rs2286267 DMTF1 AU 0.64357 0.5367 Uncertain 7_86795948_AG->- 7 86795948 86795949 AG - indel 6067.73 1/1 99 130 0 130 1.0 intronic rs3058402 DMTF1 AU NM_021145 exon6 c.1664+27_1664+28delAG 0.641174 0.5268 0.690765 0.7198 0.5371 Uncertain 7_86800351_A->G 7 86800351 86800351 A G snp 4298.77 1/1 99 162 2 160 0.99 exonic rs3747807 DMTF1 AU synonymous SNV NM_001142326 exon4 c.A9G p.A3A 0.785543 0.6121 0.847916 0.8211 0.6293 Uncertain 7_86820459_G->A 7 86820459 86820459 G A snp 1498.77 1/1 99 44 0 44 1.0 intronic rs1558050 DMTF1 AU NM_021145 exon16 c.26086+116G>A 0.695887 0.5268 Uncertain 7_86827033_A->T 7 86827033 86827033 A T snp 93.28 1/1 9 3 0 3 1.0 intronic rs10480417 TMEM243 AU NM_024315 exon2 c.1305-223A>T Uncertain 7_86978347_C->A 7 86978347 86978347 C A snp 766.77 0/1 99 61 27 34 0.56 intronic rs802037 CROT AU 0.781749 0.7202 0.789373 0.7515 0.7274 Uncertain 7_86983715_A->G 7 86983715 86983715 A G snp 1331.77 0/1 99 109 52 57 0.52 intronic rs7808249 CROT AU NM_001143935 exon4 c.8438-3107A>G 0.674521 0.7192 0.655215 0.6749 0.7257 Uncertain 7_86990606_A->G 7 86990606 86990606 A G snp 521.77 0/1 99 38 22 16 0.42 intronic CROT AU NM_021151 exon5 c.12321-99A>G Uncertain 7_86998842_G->A 7 86998842 86998842 G A snp 2353.77 1/1 99 83 1 82 0.99 intronic rs6966140 CROT AU NM_021151 exon7 c.20416+42G>A 0.642372 0.747 0.657235 0.7225 0.7309 Uncertain 7_87005287_-->T 7 87005287 87005287 - T indel 439.73 1/1 54 35 0 35 1.0 intronic rs397726547 CROT AU NM_021151 exon9 c.26885+18insT 0.564097 0.5913 0.632059 0.6211 0.6212 Uncertain 7_87006567_G->C 7 87006567 87006567 G C snp 232.84 1/1 18 9 0 9 1.0 intronic rs802042 CROT AU NM_021151 exon10 c.28280-97G>C 0.835463 0.7431 Uncertain 7_87011349_G->A 7 87011349 87011349 G A snp 1420.77 1/1 99 53 0 53 1.0 intronic rs31630 CROT AU NM_021151 exon12 c.33005-40G>A 0.826677 0.7202 0.872631 0.8622 0.7003 Uncertain 7_87022024_G->C 7 87022024 87022024 G C snp 5210.77 1/1 99 205 0 205 1.0 intronic rs31644 CROT AU NM_021151 exon16 c.43661-21G>C 0.826478 0.7222 0.871982 0.8636 0.7060 Uncertain 7_87031809_A->G 7 87031809 87031809 A G snp 93.28 1/1 9 3 0 3 1.0 intronic rs1526090 ABCB4 AR,AD NM_018850 exon1 c.207+191A>G 0.663139 0.7143 Uncertain 7_87032613_A->G 7 87032613 87032613 A G snp 1111.77 1/1 81 40 0 40 1.0 intronic rs31653 ABCB4 AR,AD NM_018850 exon2 c.1186+16A>G 0.879992 0.7272 0.923420 0.8775 0.7074 Uncertain 7_87049113_C->A 7 87049113 87049113 C A snp 44.74 1/1 6 2 0 2 1.0 intronic rs31665 ABCB4 AR,AD NM_018850 exon9 c.17902-200C>A Uncertain 7_87053150_A->G 7 87053150 87053150 A G snp 2968.77 1/1 99 101 0 101 1.0 intronic rs31667 ABCB4 AR,AD NM_018850 exon11 c.21810-71A>G 0.691893 0.6855 Uncertain 7_87053206_G->A 7 87053206 87053206 G A snp 4316.77 1/1 99 161 0 161 1.0 intronic rs31668 ABCB4 AR,AD NM_018850 exon11 c.21810-15G>A 0.873602 0.7133 0.925957 0.8990 0.6999 Uncertain 7_87069758_T->C 7 87069758 87069758 T C snp 1923.77 1/1 99 61 0 61 1.0 intronic rs31675 ABCB4 AR,AD NM_018850 exon15 c.38307+40T>C 0.878195 0.7222 0.931175 0.9037 0.7185 Uncertain 7_87138511_G->A 7 87138511 87138511 G A snp 747.77 1/1 54 26 0 26 1.0 intronic rs2235048 ABCB1 AU NM_000927 exon3 c.5032-79G>A 0.602436 0.6012 Uncertain 7_87138532_A->C 7 87138532 87138532 A C snp 1125.77 1/1 81 38 0 38 1.0 intronic rs2235047 ABCB1 AU NM_000927 exon3 c.5032-58A>C 0.174521 0.4206 Uncertain 7_87138645_A->G 7 87138645 87138645 A G snp 2494.77 1/1 99 95 0 95 1.0 exonic rs1045642 ABCB1 AU synonymous SNV NM_000927 exon27 c.T3435C p.I1145I 0.604832 0.6022 0.576657 0.5034 0.6245 ID=CM000496;DIS=Lower P-glycoprotein level, association with;TAG=DFP;PUB=10716719 DFP Uncertain 7_87144816_G->C 7 87144816 87144816 G C snp 947.77 1/1 69 29 0 29 1.0 intronic rs7779562 ABCB1 AU NM_000927 exon4 c.11186+72G>C 0.233626 0.373 Uncertain 7_87160618_A->C 7 87160618 87160618 A C snp 1895.77 1/1 99 69 1 68 0.99 exonic rs2032582 ABCB1 AU nonsynonymous SNV NM_000927 exon22 c.T2677G p.S893A 0.617013 0.4683 0.678072 0.5432 0.4653 1 T 0.001 P -0.903 T 0.0 T 0.005 T CLINSIG=non-pathogenic,non-pathogenic;CLNDBN=not_specified,not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter,criteria_provided\x2c_single_submitter;CLNACC=RCV000152717.2,RCV000152713.2;CLNDSDB=MedGen,MedGen;CLNDSDBID=CN169374,CN169374 ID=CM033585;DIS=Inflammatory bowel disease, association with;TAG=DP;PUB=14610718 DP Pathogenic 7_87168749_C->T 7 87168749 87168749 C T snp 1045.77 1/1 75 41 0 41 1.0 intronic rs4728699 ABCB1 AU NM_000927 exon10 c.35103+88C>T 0.973442 0.997 Uncertain 7_87195962_G->A 7 87195962 87195962 G A snp 173.9 1/1 15 5 0 5 1.0 intronic rs1202168 ABCB1 AU NM_000927 exon23 c.62542-138G>A 0.431909 0.628 Uncertain 7_87199365_T->C 7 87199365 87199365 T C snp 256.8 1/1 21 8 0 8 1.0 intronic rs2235018 ABCB1 AU NM_000927 exon24 c.65929-122T>C 0.048123 0.2073 Uncertain 7_87215114_A->C 7 87215114 87215114 A C snp 383.77 1/1 30 10 0 10 1.0 intronic rs1211152 ABCB1 AU NM_000927 exon25 c.81438+118A>C 0.980431 1 Uncertain 7_87229501_T->C 7 87229501 87229501 T C snp 2318.77 1/1 99 84 0 84 1.0 UTR5 rs2214102 ABCB1 AU 0.97524 1 0.940643 0.9445 0.9999 Uncertain 7_87526550_-->A 7 87526550 87526550 - A indel 495.73 1/1 66 25 0 25 1.0 intronic rs11422356 DBF4 AU NM_006716 exon8 c.20561-58insA 0.441775 Uncertain 7_87530341_A->T 7 87530341 87530341 A T snp 1136.77 1/1 84 35 0 35 1.0 intronic rs59797284 DBF4 AU NM_006716 exon10 c.24146+148A>T 0.18151 0.1567 Uncertain 7_87533837_T->C 7 87533837 87533837 T C snp 133.03 1/1 12 4 0 4 1.0 intronic rs77939101 DBF4 AU NM_006716 exon11 c.27684+106T>C 0.324081 0.3016 Uncertain 7_87563976_TT->- 7 87563976 87563977 TT - indel 312.5 0/1 3 33 3 30 0.91 intronic rs769468264 ADAM22 AU NM_021723 exon1 c.85+111_85+112delTT Uncertain 7_87564179_G->C 7 87564179 87564179 G C snp 3278.77 1/1 99 119 0 119 1.0 intronic rs2279541 ADAM22 AU NM_021723 exon2 c.560-161G>C 0.24381 0.1567 0.3562 0.3249 Uncertain 7_87564277_A->C 7 87564277 87564277 A C snp 4952.77 1/1 99 168 0 168 1.0 intronic rs10239100 ADAM22 AU NM_021723 exon2 c.560-63A>C 0.287939 0.2133 0.1985 0.1941 Uncertain 7_87564497_C->G 7 87564497 87564497 C G snp 1783.77 1/1 99 53 0 53 1.0 exonic rs2279542 ADAM22 AU nonsynonymous SNV NM_021723 exon2 c.C242G p.P81R 0.630391 0.5407 0.634982 0.5761 0.5940 0.7 T 0.0 P -0.989 T 0.002 T 0.009 T Pathogenic 7_87594188_T->G 7 87594188 87594188 T G snp 276.77 0/1 99 23 10 13 0.57 intronic rs1637500 ADAM22 AU NM_021723 exon3 c.43870-13462T>G 0.355831 0.0784 Uncertain 7_87745903_A->T 7 87745903 87745903 A T snp 1388.77 1/1 99 45 0 45 1.0 intronic rs2301998 ADAM22 AU NM_021723 exon7 c.182279-156A>T 0.708866 0.9077 Uncertain 7_87765476_C->T 7 87765476 87765476 C T snp 642.77 0/1 99 51 25 26 0.51 intronic rs12538777 ADAM22 AU NM_021723 exon14 c.201566+130C>T 0.220647 0.4891 Uncertain 7_87778503_T->A 7 87778503 87778503 T A snp 350.77 0/1 99 28 17 11 0.39 intronic rs2301999 ADAM22 AU NM_021723 exon18 c.214592+131T>A 0.239217 0.494 Uncertain 7_87780704_G->C 7 87780704 87780704 G C snp 2197.77 0/1 99 194 103 91 0.47 intronic rs12533109 ADAM22 AU NM_021723 exon20 c.216855+69G>C 0.221845 0.494 0.087385 Uncertain 7_87785405_T->C 7 87785405 87785405 T C snp 510.77 0/1 99 35 15 20 0.57 intronic rs2072213 ADAM22 AU NM_021723 exon22 c.221541+84T>C 0.240415 0.494 Uncertain 7_87795282_C->G 7 87795282 87795282 C G snp 1209.77 0/1 99 87 44 43 0.49 intronic rs17150304 ADAM22 AU NM_021723 exon24 c.231481+21C>G 0.220847 0.494 0.082553 0.1735 0.4920 Uncertain 7_87800809_G->- 7 87800809 87800809 G - indel 421.73 0/1 99 46 31 15 0.33 intronic rs11332301 ADAM22 AU NM_021723 exon26 c.237078-49delG 0.23123 0.4931 0.091262 0.1711 0.4857 Uncertain 7_87810955_T->C 7 87810955 87810955 T C snp 2105.77 0/1 99 189 102 87 0.46 intronic rs2240467 ADAM22 AU NM_021723 exon28 c.247140+35T>C 0.240415 0.4931 0.100908 0.1774 0.4911 Uncertain 7_87813635_C->T 7 87813635 87813635 C T snp 818.77 0/1 99 85 48 37 0.44 intronic rs3789240 ADAM22 AU NM_021721 exon28 c.247648+2207C>T 0.220647 0.4931 0.2081 0.4495 1 T 1.0 P -1.052 T Uncertain 7_87813766_A->C 7 87813766 87813766 A C snp 638.77 0/1 99 63 35 28 0.44 intronic rs3789239 ADAM22 AU NM_021722 exon29 c.252149-2163A>C 0.240016 0.4931 0.1851 0.4529 Uncertain 7_87913361_C->T 7 87913361 87913361 C T snp 2565.77 1/1 99 94 0 94 1.0 exonic rs1981529 STEAP4 AU nonsynonymous SNV NM_024636 exon2 c.G224A p.G75D 0.851238 0.9067 0.806267 0.7779 0.8976 1 T 0.0 P -1.002 T 0.0 T 0.0 T ID=CM1111058;DIS=Obesity, association with;TAG=DP;PUB=21933608 DP Pathogenic 7_88424366_AA->- 7 88424366 88424367 AA - indel 337 1/1 12 14 1 13 0.93 splicing rs35996371 C7orf62 AU NM_152706 exon1 c.866+6_866+7delAA 0.588658 0.8204 Pathogenic 7_88847451_A->T 7 88847451 88847451 A T snp 679.77 0/1 99 55 27 28 0.51 intronic rs4140973 ZNF804B AU NM_181646 exon2 c.458178-17A>T 0.58726 0.2014 0.5276 0.1572 Uncertain 7_88956699_A->G 7 88956699 88956699 A G snp 1010.77 0/1 99 131 85 46 0.35 exonic rs38971 ZNF804B AU synonymous SNV NM_181646 exon3 c.A291G p.V97V 0.30631 0.6716 0.179126 0.2311 0.7041 Uncertain 7_88963039_G->A 7 88963039 88963039 G A snp 1566.77 0/1 99 124 64 60 0.48 exonic rs1916830 ZNF804B AU nonsynonymous SNV NM_181646 exon4 c.G743A p.C248Y 0.154353 0.4663 0.010381 0.0822 0.4570 0.24 T 0.868 P -0.928 T 0.221 T 0.07 T Pathogenic 7_88964000_C->T 7 88964000 88964000 C T snp 1879.77 0/1 99 149 72 77 0.52 exonic rs801839 ZNF804B AU synonymous SNV NM_181646 exon4 c.C1704T p.F568F 0.509784 0.7153 0.372052 0.3390 0.6855 Uncertain 7_88964196_T->A 7 88964196 88964196 T A snp 2672.77 0/1 99 250 139 111 0.44 exonic rs801840 ZNF804B AU nonsynonymous SNV NM_181646 exon4 c.T1900A p.F634I 0.520567 0.7153 0.388052 0.3432 0.6880 0.08 T 0.000 P -1.081 T 0.0 T 0.0 T Pathogenic 7_88966456_C->T 7 88966456 88966456 C T snp 645.77 1/1 48 18 0 18 1.0 downstream rs1524127 ZNF804B AU 0.198682 0.6022 Uncertain 7_89783895_C->T 7 89783895 89783895 C T snp 1099.77 1/1 78 43 0 43 1.0 ncRNA_intronic rs7799132 STEAP2-AS1 AU 0.489816 0.7212 Uncertain 7_89792159_T->G 7 89792159 89792159 T G snp 90.28 1/1 9 3 0 3 1.0 ncRNA_intronic rs2374250 STEAP2-AS1 AU 0.45028 0.7212 Uncertain 7_89792250_A->C 7 89792250 89792250 A C snp 1726.77 1/1 99 51 0 51 1.0 ncRNA_intronic rs39286 STEAP2-AS1 AU 0.98143 0.997 0.9622 0.9979 Uncertain 7_89793641_T->C 7 89793641 89793641 T C snp 838.77 1/1 63 24 0 24 1.0 ncRNA_intronic rs2286254 STEAP2-AS1 AU 0.303714 0.6468 Uncertain 7_89797100_A->G 7 89797100 89797100 A G snp 615.77 0/1 99 41 14 27 0.66 ncRNA_intronic rs17869446 STEAP2-AS1 AU 0.076278 0.1607 0.0144 0.1488 Uncertain 7_89797144_G->T 7 89797144 89797144 G T snp 1144.77 1/1 81 46 0 46 1.0 ncRNA_intronic rs259136 STEAP2-AS1 AU 0.980032 0.997 0.9626 0.9977 Uncertain 7_89797280_C->T 7 89797280 89797280 C T snp 133.03 1/1 12 4 0 4 1.0 ncRNA_intronic rs259137 STEAP2-AS1 AU 0.829073 0.9117 Uncertain 7_89861890_G->T 7 89861890 89861890 G T snp 2121.77 1/1 99 75 0 75 1.0 exonic rs194525 STEAP2 AU nonsynonymous SNV NM_152999 exon5 c.G1425T p.M475I 0.944089 0.999 0.880941 0.8932 0.9991 0.41 T 0.0 P -0.994 T 0.0 T 0.001 T Pathogenic 7_89861942_C->T 7 89861942 89861942 C T snp 1399.77 1/1 99 53 0 53 1.0 UTR3 rs194526 STEAP2 AU 0.95028 0.999 0.887119 0.8944 0.9991 Uncertain 7_89867369_C->G 7 89867369 89867369 C G snp 2186.77 1/1 99 77 0 77 1.0 downstream rs2013992 STEAP2 AU 0.545527 0.7589 0.4042 0.7388 Uncertain 7_89884825_C->T 7 89884825 89884825 C T snp 636.77 0/1 99 69 40 29 0.42 intronic rs17869560 CFAP69 AU NM_001160138 exon2 c.10058+29C>T 0.0609026 0.1081 0.010098 0.0313 0.1051 Uncertain 7_89884941_G->T 7 89884941 89884941 G T snp 153.77 0/1 99 9 4 5 0.56 intronic rs17865276 CFAP69 AU NM_001160138 exon2 c.10058+145G>T 0.0595048 0.1081 Uncertain 7_89887357_A->T 7 89887357 89887357 A T snp 221.77 0/1 99 18 8 10 0.56 intronic rs11563556 CFAP69 AU NM_001160138 exon3 c.12673-54A>T 0.0595048 0.1081 Uncertain 7_89897829_T->C 7 89897829 89897829 T C snp 284.77 0/1 99 25 14 11 0.44 intronic rs17867605 CFAP69 AU NM_001039706 exon6 c.22960+131T>C 0.403954 0.6855 Uncertain 7_89901039_A->C 7 89901039 89901039 A C snp 1521.77 1/1 99 58 0 58 1.0 intronic rs10280053 CFAP69 AU NM_001160138 exon7 c.26251+50A>C 0.947883 0.999 0.882790 0.8924 0.9991 Uncertain 7_89903230_A->T 7 89903230 89903230 A T snp 79.77 0/1 99 9 5 4 0.44 intronic rs28945134 CFAP69 AU NM_001160138 exon9 c.28562-70A>T 0.0537141 0.1022 Uncertain 7_89906609_C->T 7 89906609 89906609 C T snp 440.77 0/1 99 54 33 21 0.39 exonic rs3761805 CFAP69 AU synonymous SNV NM_001039706 exon11 c.C1116T p.N372N 0.403754 0.6855 0.236715 0.2837 0.6827 Uncertain 7_89912301_G->A 7 89912301 89912301 G A snp 5154.77 1/1 99 196 0 196 1.0 exonic rs1029365 CFAP69 AU nonsynonymous SNV NM_001039706 exon13 c.G1468A p.V490M 0.884185 0.995 0.795265 0.8295 0.9969 1 T 0.000 P -0.951 T 0.01 T 0.012 T Pathogenic 7_89917762_A->G 7 89917762 89917762 A G snp 200.77 0/1 99 11 4 7 0.64 intronic rs17868448 CFAP69 AU NM_001160138 exon15 c.42928+96A>G 0.0595048 0.1081 Uncertain 7_89927191_T->A 7 89927191 89927191 T A snp 1460.77 1/1 99 55 0 55 1.0 intronic rs6465256 CFAP69 AU NM_001160138 exon16 c.52406+47T>A 0.947684 0.999 0.883605 0.8920 0.9991 Uncertain 7_89933958_TAGATAGATAGATAGATAGA->- 7 89933958 89933977 TAGATAGATAGATAGATAGA - indel 2357.73 ./1 99 21 0 21 1.0 intronic rs146962282 CFAP69 AU NM_001160138 exon19 c.59319-99_59319-80delTAGATAGATAGATAGATAGA Uncertain 7_89933957_-->TAGA 7 89933957 89933957 - TAGA indel 2357.73 ./1 99 21 0 21 1.0 intronic rs202199039 CFAP69 AU NM_001160138 exon19 c.59319-100insTAGA Uncertain 7_89937028_A->- 7 89937028 89937028 A - indel 230.73 0/1 62 15 4 11 0.73 intronic rs35441907 CFAP69 AU NM_001160138 exon21 c.62343-53delA 0.488219 0.3313 Uncertain 7_89937168_G->A 7 89937168 89937168 G A snp 632.77 0/1 99 52 21 31 0.6 exonic rs11563551 CFAP69 AU synonymous SNV NM_001039706 exon21 c.G2550A p.K850K 0.0595048 0.1081 0.008016 0.0319 0.1081 1 D -1.070 T Likely benign 7_89937210_A->G 7 89937210 89937210 A G snp 208.77 0/1 99 32 20 12 0.38 intronic rs4728881 CFAP69 AU NM_001160138 exon21 c.62430+42A>G 0.405351 0.6855 0.242203 0.2913 0.6888 Uncertain 7_89938588_C->G 7 89938588 89938588 C G snp 1646.77 1/1 99 62 0 62 1.0 exonic rs7803620 CFAP69 AU nonsynonymous SNV NM_001039706 exon22 c.C2562G p.S854R 0.922125 0.999 0.855252 0.8841 0.9989 1 T 0.0 P -1.006 T 0.0 T 0.001 T Pathogenic 7_89939427_T->C 7 89939427 89939427 T C snp 2110.77 0/1 99 180 82 98 0.54 exonic rs11563907 CFAP69 AU synonymous SNV NM_001039706 exon23 c.T2701C p.L901L 0.0603035 0.1081 0.008927 0.0310 0.1055 1.000 N -1.045 T Likely benign 7_89975920_T->A 7 89975920 89975920 T A snp 534.77 1/1 42 14 0 14 1.0 upstream rs42646 GTPBP10 AU 0.948283 0.999 Uncertain 7_89976001_G->A 7 89976001 89976001 G A snp 2433.77 0/1 99 151 62 89 0.59 UTR5 rs3814966 GTPBP10 AU 0.0728834 0.1151 0.021463 Uncertain 7_89976138_TTC->- 7 89976138 89976140 TTC - indel 5103.73 0/1 99 250 140 110 0.44 intronic rs368999122 GTPBP10 AU NM_033107 exon1 c.33+50_33+52delTTC 0.379593 0.6746 0.229952 0.2801 0.6694 Uncertain 7_89983652_A->G 7 89983652 89983652 A G snp 48.74 1/1 6 2 0 2 1.0 intronic rs42662 GTPBP10 AU NM_033107 exon3 c.7716-119A>G 0.813698 0.8899 Uncertain 7_89983808_T->G 7 89983808 89983808 T G snp 445.77 0/1 99 36 18 18 0.5 exonic rs42663 GTPBP10 AU nonsynonymous SNV NM_033107 exon3 c.T264G p.C88W 0.80012 0.8899 0.773070 0.8097 0.8944 1.000 P -1.097 T 0.959 D 0.781 D Pathogenic 7_89984409_A->G 7 89984409 89984409 A G snp 352.77 0/1 99 49 30 19 0.39 exonic rs42664 GTPBP10 AU nonsynonymous SNV NM_033107 exon4 c.A329G p.N110S 0.51258 0.6468 0.502153 0.5684 0.6333 1.000 P -0.982 T 0.277 T 0.223 T Pathogenic 7_90014111_G->T 7 90014111 90014111 G T snp 530.77 1/1 42 16 0 16 1.0 intronic rs9886362 GTPBP10 AU NM_033107 exon10 c.38150-94G>T 0.955072 0.997 Uncertain 7_90014408_G->A 7 90014408 90014408 G A snp 1722.77 0/1 99 125 56 69 0.55 exonic rs17863999 GTPBP10 AU nonsynonymous SNV NM_001042717 exon8 c.G867A p.M289I 0.1873 0.1101 0.212748 0.1862 0.1055 0.0 P -0.988 T 0.0 T 0.0 T Pathogenic 7_90042857_G->T 7 90042857 90042857 G T snp 152.77 0/1 99 10 5 5 0.5 UTR3 rs3810874 CLDN12 AU 0.264776 0.5585 Uncertain 7_90225928_T->C 7 90225928 90225928 T C snp 4127.77 1/1 99 155 1 154 0.99 UTR5 rs7782773 CDK14 AU 0.965655 0.999 0.948552 0.9562 0.9995 Uncertain 7_90233431_A->G 7 90233431 90233431 A G snp 655.77 1/1 48 24 0 24 1.0 intronic rs17867713 CDK14 AU NM_001287135 exon2 c.7590-100A>G 0.100639 0.1974 Uncertain 7_90356175_T->C 7 90356175 90356175 T C snp 2032.77 1/1 99 62 0 62 1.0 intronic rs10240049 CDK14 AU NM_001287136 exon2 c.231+49T>C 0.940296 0.999 0.911308 0.9099 0.9994 Uncertain 7_90742137_-->GT 7 90742137 90742137 - GT indel 496.19 1/1 4 36 1 35 0.97 intronic rs112066860 CDK14 AU NM_001287136 exon12 c.386101+141insGT Uncertain 7_90747682_C->T 7 90747682 90747682 C T snp 54.74 1/1 6 2 0 2 1.0 intronic rs10488003 CDK14 AU NM_001287136 exon13 c.391628+159C>T 0.3123 0.5317 Uncertain 7_90894102_C->G 7 90894102 90894102 C G snp 89.77 0/1 30 6 1 5 0.83 UTR5 rs2232158 FZD1 AU 0.576877 0.5238 ID=CR093841;DIS=Bone mineral density, association with;TAG=DFP;PUB=18715140 DFP Uncertain 7_91503228_C->T 7 91503228 91503228 C T snp 3019.77 0/1 99 250 119 131 0.52 exonic rs10266424 MTERF1 AU nonsynonymous SNV NM_001301134 exon2 c.G820A p.A274T 0.39996 0.4633 0.405044 0.4664 0.4283 0.62 T 0.0 P -0.949 T 0.0 T 0.0 T Pathogenic 7_91509232_G->A 7 91509232 91509232 G A snp 1682.77 0/1 99 176 107 69 0.39 intronic rs12672603 MTERF1 AU NM_006980 exon2 c.6461-136G>A 0.19389 0.3571 Uncertain 7_91509551_T->C 7 91509551 91509551 T C snp 71.77 0/1 99 8 5 3 0.38 intronic rs2269811 MTERF1 AU NM_006980 exon2 c.6520+124T>C 0.19389 0.3571 Uncertain 7_91570290_G->C 7 91570290 91570290 G C snp 5608.77 1/1 99 200 0 200 1.0 UTR5 rs4727267 AKAP9 AU 0.628594 0.8383 Uncertain 7_91632306_C->T 7 91632306 91632306 C T snp 2439.77 1/1 99 90 0 90 1.0 exonic rs1989779 AKAP9 AU synonymous SNV NM_005751 exon8 c.C3075T p.T1025T 0.935903 0.9673 0.906351 0.8924 0.9757 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_multiple_submitters\x2c_no_conflicts;CLNACC=RCV000123594.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 7_91632424_A->G 7 91632424 91632424 A G snp 962.77 0/1 99 82 40 42 0.51 exonic rs185594755 AKAP9 AU nonsynonymous SNV NM_005751 exon8 c.A3193G p.S1065G 0.00179712 0.0069 0.0005 0.0057 0.31 T 0.524 N -1.014 T 0.003 T 0.004 T Pathogenic 7_91714911_C->T 7 91714911 91714911 C T snp 2066.77 1/1 99 71 0 71 1.0 exonic rs1063242 AKAP9 AU nonsynonymous SNV NM_005751 exon36 c.C8935T p.P2979S 0.998802 1 0.997386 0.9962 1 1 T 0.0 P -1.027 T 0.0 T 0.0 T CLINSIG=non-pathogenic|probable-non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=criteria_provided\x2c_multiple_submitters\x2c_no_conflicts|criteria_provided\x2c_single_submitter;CLNACC=RCV000123587.2|RCV000171725.1;CLNDSDB=MedGen|MedGen;CLNDSDBID=CN169374|CN221809 Pathogenic 7_91728923_C->T 7 91728923 91728923 C T snp 1673.77 0/1 99 113 50 63 0.56 intronic rs3750111 AKAP9 AU NM_005751 exon44 c.158587-77C>T 0.17512 0.3512 Uncertain 7_91758422_C->A 7 91758422 91758422 C A snp 335.77 0/1 99 35 20 15 0.43 intronic rs4729021 CYP51A1 AU NM_000786 exon8 c.15392+52C>A 0.601038 0.5317 0.595619 0.5204 0.5701 Uncertain 7_91761306_A->- 7 91761306 91761306 A - indel 187.77 1/1 21 9 0 9 1.0 intronic rs398005447 CYP51A1 AU NM_000786 exon9 c.18208+120delA 0.995208 0.996 Uncertain 7_91774220_C->T 7 91774220 91774220 C T snp 793.77 0/1 99 73 39 34 0.47 exonic rs117527729 LRRD1 AU synonymous SNV NM_001161528 exon5 c.G2565A p.T855T 0.00599042 0.0188 0.0013 0.0129 Uncertain 7_91842554_T->C 7 91842554 91842554 T C snp 1839.77 0/1 99 163 80 83 0.51 exonic rs11542682 KRIT1 AD synonymous SNV NM_194456 exon18 c.A1980G p.V660V 0.180511 0.3403 0.102337 0.1289 0.3649 ID=CM105502;DIS=Phenotype modifier, association with;TAG=DP;PUB=20419355 DP Uncertain 7_91843060_T->C 7 91843060 91843060 T C snp 119.77 0/1 99 7 3 4 0.57 intronic rs74603220 KRIT1 AD NM_194455 exon4 c.13156-145T>C 0.180112 0.3403 Uncertain 7_91863700_G->C 7 91863700 91863700 G C snp 165.77 0/1 99 14 4 10 0.71 intronic rs2027950 KRIT1 AD NM_194455 exon10 c.33713-62G>C 0.596845 0.5278 Uncertain 7_91865662_C->G 7 91865662 91865662 C G snp 185.77 0/1 99 16 9 7 0.44 intronic rs17164451 KRIT1 AD NM_194455 exon13 c.35677-64C>G 0.25 0.3611 Uncertain 7_91866922_T->C 7 91866922 91866922 T C snp 463.77 0/1 99 35 16 19 0.54 intronic rs3213610 KRIT1 AD NM_194455 exon14 c.36931-58T>C 0.0417332 0.1696 Uncertain 7_91948921_TTC->- 7 91948921 91948923 TTC - indel 507.73 0/1 99 27 11 16 0.59 intronic rs144102934 ANKIB1 AU NM_019004 exon4 c.24534+95_24534+97delTTC 0.153954 0.3413 Uncertain 7_92027187_A->G 7 92027187 92027187 A G snp 2435.77 1/1 99 88 0 88 1.0 intronic rs38793 ANKIB1 AU NM_019004 exon19 c.102881+14A>G 0.727236 0.8333 0.666477 0.6767 0.8191 Uncertain 7_92027537_C->G 7 92027537 92027537 C G snp 454.77 0/1 99 39 19 20 0.51 exonic rs1861635 ANKIB1 AU synonymous SNV NM_019004 exon20 c.C2544G p.S848S 0.154752 0.3413 0.084480 0.1269 0.3632 Uncertain 7_92028039_C->A 7 92028039 92028039 C A snp 1240.77 0/1 99 124 69 55 0.44 exonic rs38794 ANKIB1 AU nonsynonymous SNV NM_019004 exon20 c.C3046A p.L1016M 0.439097 0.4712 0.446070 0.5147 0.4303 0 D 0.0 P -0.927 T 0.005 T 0.013 T Pathogenic 7_92119284_C->G 7 92119284 92119284 C G snp 296.78 1/1 24 8 0 8 1.0 intronic rs972923 PEX1 AR,AU NM_001282678 exon3 c.2455+59C>G 0.9998 1 Uncertain 7_92129162_A->- 7 92129162 92129162 A - indel 1867.73 1/1 99 101 0 101 1.0 intronic rs5885806 PEX1 AR,AU NM_001282678 exon9 c.12382+10delA 0.6319 0.6094 Uncertain 7_92131289_G->T 7 92131289 92131289 G T snp 4507.77 1/1 99 178 1 177 0.99 exonic rs10278857 PEX1 AR,AU synonymous SNV NM_000466 exon14 c.C2331A p.G777G 0.94988 0.9653 0.931724 0.9218 0.9676 Uncertain 7_92135802_T->A 7 92135802 92135802 T A snp 634.77 1/1 48 22 0 22 1.0 intronic rs6465359 PEX1 AR,AU NM_001282678 exon14 c.18888+144T>A 0.933906 0.9653 Uncertain 7_92136499_-->A 7 92136499 92136499 - A indel 243.73 0/1 99 29 14 15 0.52 intronic rs151002946 PEX1 AR,AU NM_001282678 exon15 c.19670+59insA Uncertain 7_92147584_C->T 7 92147584 92147584 C T snp 1504.77 1/1 99 48 0 48 1.0 intronic rs38809 PEX1 AR,AU NM_001282678 exon21 c.30799+15C>T 0.89397 0.9514 0.864678 0.8793 0.9605 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000078928.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 7_92164318_C->T 7 92164318 92164318 C T snp 1297.77 0/1 99 105 52 53 0.5 intronic rs67142609 RBM48 AU NM_032120 exon4 c.6157+34C>T 0.0970447 0.1319 0.029301 0.1004 0.1679 0.981 D Uncertain 7_92300587_G->A 7 92300587 92300587 G A snp 144.77 0/1 99 13 8 5 0.38 intronic rs2301556 CDK6 AR NM_001259 exon4 c.56286-152G>A 0.21845 0.124 Uncertain 7_92300863_C->T 7 92300863 92300863 C T snp 330.77 0/1 99 36 20 16 0.44 intronic rs2301557 CDK6 AR NM_001259 exon4 c.56396+14C>T 0.0986422 0.3482 0.019760 0.0568 0.3585 Uncertain 7_92355225_C->T 7 92355225 92355225 C T snp 113.77 0/1 99 7 3 4 0.57 intronic rs3731314 CDK6 AR NM_001259 exon5 c.110654+118C>T 0.198083 0.123 Uncertain 7_92403859_C->T 7 92403859 92403859 C T snp 232.77 0/1 99 12 4 8 0.67 intronic rs3731303 CDK6 AR NM_001259 exon6 c.159556-150C>T 0.144569 0.1448 Uncertain 7_92403868_T->C 7 92403868 92403868 T C snp 127.77 0/1 99 16 11 5 0.31 intronic rs193157864 CDK6 AR NM_001259 exon6 c.159556-141T>C 0.00319489 0.0139 Uncertain 7_92733766_C->A 7 92733766 92733766 C A snp 2534.77 0/1 99 249 142 107 0.43 exonic rs10279499 SAMD9 AR,AD nonsynonymous SNV NM_017654 exon3 c.G1645T p.V549L 0.096845 0.1359 0.112273 0.0908 0.1476 0.01 T 0.735 P -1.058 T 0.982 D 0.489 D Pathogenic 7_92734451_A->G 7 92734451 92734451 A G snp 2434.77 1/1 99 84 0 84 1.0 exonic rs6965201 SAMD9 AR,AD synonymous SNV NM_017654 exon3 c.T960C p.Y320Y 0.521166 0.5188 0.437798 0.3733 0.5381 Uncertain 7_92734983_A->G 7 92734983 92734983 A G snp 3010.77 0/1 99 237 121 116 0.49 exonic rs6969691 SAMD9 AR,AD nonsynonymous SNV NM_017654 exon3 c.T428C p.I143T 0.152556 0.1359 0.176765 0.1194 0.1482 0.66 T 0.0 P -0.911 T 0.0 T 0.0 T Pathogenic 7_92760502_G->A 7 92760502 92760502 G A snp 481.78 0/1 0 16 1 15 0.94 UTR3 rs4268 SAMD9L AD 0.568091 0.5982 0.483000 0.4099 0.6088 Uncertain 7_92760738_T->G 7 92760738 92760738 T G snp 3490.77 0/1 99 250 124 126 0.5 exonic rs10282508 SAMD9L AD nonsynonymous SNV NM_001303500 exon4 c.A4547C p.N1516T 0.106629 0.1369 0.099723 0.0607 0.1483 0.1 T 0.0 P -0.940 T 0.0 T 0.003 T Pathogenic 7_92762681_A->G 7 92762681 92762681 A G snp 3098.77 0/1 99 250 124 126 0.5 exonic rs1029357 SAMD9L AD synonymous SNV NM_001303500 exon4 c.T2604C p.A868A 0.290735 0.3482 0.196970 0.1712 0.3613 Uncertain 7_92764982_C->T 7 92764982 92764982 C T snp 3711.77 1/1 99 122 2 120 0.98 exonic rs1133906 SAMD9L AD synonymous SNV NM_001303500 exon4 c.G303A p.Q101Q 0.381789 0.5595 0.267184 0.2224 0.5741 Uncertain 7_92818647_G->T 7 92818647 92818647 G T snp 298.77 0/1 99 30 17 13 0.43 intronic rs17165143 HEPACAM2 AU NM_001288810 exon1 c.44+64G>T 0.0605032 0.1786 0.047431 Uncertain 7_92821443_T->G 7 92821443 92821443 T G snp 1134.77 0/1 99 82 36 46 0.56 intronic rs76082718 HEPACAM2 AU NM_001288810 exon2 c.3027-123T>G 0.0615016 0.1786 Uncertain 7_92826941_C->T 7 92826941 92826941 C T snp 97.77 0/1 99 21 15 6 0.29 intronic rs76906622 HEPACAM2 AU NM_001288810 exon5 c.8384+18C>T 0.0904553 0.1905 0.070692 0.0661 0.1814 Uncertain 7_92855334_G->A 7 92855334 92855334 G A snp 68.77 0/1 97 12 9 3 0.25 intronic rs4141385 HEPACAM2 AU NM_001288804 exon10 c.36685+70G>A 0.0365415 0.0952 Uncertain 7_92861626_C->T 7 92861626 92861626 C T snp 185.77 0/1 99 11 5 6 0.55 upstream rs17165189 CCDC132 AU 0.241214 0.3829 Uncertain 7_92861661_C->T 7 92861661 92861661 C T snp 101.77 0/1 99 17 12 5 0.29 UTR5 rs76810131 CCDC132 AU 0.0870607 0.1835 Uncertain 7_92882083_C->T 7 92882083 92882083 C T snp 391.77 0/1 99 30 13 17 0.57 exonic CCDC132 AU synonymous SNV NM_017667 exon3 c.C220T p.L74L Uncertain 7_92886812_A->G 7 92886812 92886812 A G snp 1037.77 1/1 75 37 0 37 1.0 intronic rs722263 CCDC132 AU NM_024553 exon6 c.24996+36A>G 0.610224 0.6062 0.552308 0.4706 0.6225 Uncertain 7_92900516_T->G 7 92900516 92900516 T G snp 181.77 0/1 99 30 20 10 0.33 intronic rs12112676 CCDC132 AU NM_024553 exon10 c.38751-15T>G 0.0914537 0.1875 0.069168 0.0742 0.1865 Uncertain 7_92940428_G->A 7 92940428 92940428 G A snp 500.77 0/1 99 34 13 21 0.62 intronic rs116942756 CCDC132 AU NM_017667 exon20 c.78697-49G>A 0.00698882 0.0347 0.0024 0.0297 Uncertain 7_92963242_A->G 7 92963242 92963242 A G snp 267.8 1/1 21 7 0 7 1.0 intronic rs4729079 CCDC132 AU NM_017667 exon22 c.101648-186A>G 0.559904 0.5942 Uncertain 7_92970847_C->T 7 92970847 92970847 C T snp 1957.77 1/1 99 69 0 69 1.0 exonic rs2106432 CCDC132 AU synonymous SNV NM_017667 exon23 c.C2167T p.L723L 0.603634 0.5952 0.527769 0.4504 0.6070 Uncertain 7_92987445_T->C 7 92987445 92987445 T C snp 491.77 0/1 99 23 8 15 0.65 intronic rs2285505 CCDC132 AU NM_017667 exon28 c.125848-183T>C 0.378794 0.2679 Uncertain 7_93055650_G->A 7 93055650 93055650 G A snp 1594.77 1/1 99 54 1 53 0.98 UTR3 rs1042138 CALCR AD 0.184105 0.4256 0.092111 0.1440 0.4159 Uncertain 7_93055753_A->G 7 93055753 93055753 A G snp 3279.77 1/1 99 117 0 117 1.0 exonic rs1801197 CALCR AD nonsynonymous SNV NM_001742 exon14 c.T1340C p.L447P 0.54353 0.8611 0.327541 0.3800 0.8668 0.3 T 0.000 P -1.043 T 0.0 T 0.0 T CLINSIG=other;CLNDBN=Bone_mineral_density_quantitative_trait_locus_15;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000019203.1;CLNDSDB=MedGen:OMIM;CLNDSDBID=C2677169:613418 ID=CM980299;DIS=Lower lumbar bone mineral density, association;TAG=DP;PUB=9675109 DP Pathogenic 7_93065192_T->C 7 93065192 93065192 T C snp 419.77 1/1 33 11 0 11 1.0 intronic rs16868394 CALCR AD NM_001164738 exon3 c.9596-71T>C 0.190096 0.4573 Uncertain 7_93067335_A->- 7 93067335 93067335 A - indel 1908.73 1/1 99 46 0 46 1.0 intronic rs10713823 CALCR AD NM_001164738 exon4 c.11704-36delA 0.729433 0.8879 0.637939 0.6615 0.8855 Uncertain 7_93070871_AA->- 7 93070871 93070872 AA - indel 2690.73 1/1 99 69 0 69 1.0 intronic rs3068357 CALCR AD NM_001164738 exon6 c.17248-2044_17248-2043delAA 0.223043 0.4603 0.2070 0.4785 Uncertain 7_93091238_G->A 7 93091238 93091238 G A snp 344.77 0/1 99 24 12 12 0.5 intronic rs1108233 CALCR AD NM_001164737 exon8 c.35707-136G>A 0.47484 0.4038 Uncertain 7_93091485_T->C 7 93091485 93091485 T C snp 231.77 0/1 99 22 14 8 0.36 intronic rs3802052 CALCR AD NM_001164737 exon8 c.35755+63T>C 0.473243 0.4028 Uncertain 7_93091488_C->T 7 93091488 93091488 C T snp 134.77 0/1 99 19 14 5 0.26 intronic rs3802051 CALCR AD NM_001164737 exon8 c.35755+66C>T 0.386182 0.4008 Uncertain 7_93098135_-->AAACAAACAAAC 7 93098135 93098135 - AAACAAACAAAC indel 3404.73 0/1 99 81 35 46 0.57 intronic rs139734304 CALCR AD NM_001164738 exon8 c.42451+17insAAACAAACAAAC 0.383986 0.3998 0.4194 0.3918 Uncertain 7_93107093_A->C 7 93107093 93107093 A C snp 3188.81 1/1 99 106 0 106 1.0 intronic rs2074120 CALCR AD NM_001164738 exon10 c.51313+113A>C 0.63139 0.7103 Uncertain 7_93116138_G->A 7 93116138 93116138 G A snp 2145.77 1/1 99 80 0 80 1.0 intronic rs9691220 CALCR AD NM_001164738 exon12 c.60575-104G>A 0.575679 0.7103 Uncertain 7_93116299_A->G 7 93116299 93116299 A G snp 1619.77 1/1 99 56 0 56 1.0 UTR5 rs2301680 CALCR AD 0.575679 0.7103 0.539763 0.5177 0.6798 1 T 0.001 P -0.937 T 0.0 T 0.0 T Uncertain 7_93125110_T->C 7 93125110 93125110 T C snp 1387.77 0/1 99 141 77 64 0.45 intronic rs17165491 CALCR AD NM_001164737 exon14 c.69548-105T>C 0.149361 0.3115 Uncertain 7_93540348_T->G 7 93540348 93540348 T G snp 85.77 0/1 74 9 4 5 0.56 UTR3 rs2798 GNGT1 AU 0.607628 0.7391 Uncertain 7_93551428_C->T 7 93551428 93551428 C T snp 525.77 0/1 99 47 23 24 0.51 UTR5 rs4262 GNG11 AU 0.546725 0.7411 0.505075 0.6103 0.7676 Uncertain 7_93623458_A->G 7 93623458 93623458 A G snp 290.78 1/1 24 8 0 8 1.0 UTR3 rs2286845 BET1 AU 0.294928 0.4663 Uncertain 7_94027699_T->C 7 94027699 94027699 T C snp 70.77 0/1 99 20 15 5 0.25 exonic rs1801182 COL1A2 AR,AD synonymous SNV NM_000089 exon3 c.T87C p.T29T 0.205072 0.3502 0.097635 0.1329 0.4791 Uncertain 7_94030899_T->C 7 94030899 94030899 T C snp 434.77 0/1 99 21 4 17 0.81 exonic rs1800222 COL1A2 AR,AD synonymous SNV NM_000089 exon6 c.T246C p.D82D 0.304313 0.3948 0.252038 0.1744 0.3963 Uncertain 7_94034689_C->T 7 94034689 94034689 C T snp 116.77 0/1 99 12 6 6 0.5 intronic rs28417792 COL1A2 AR,AD NM_000089 exon10 c.10221+125C>T 0.207268 0.3442 Uncertain 7_94038934_C->T 7 94038934 94038934 C T snp 4838.77 1/1 99 173 0 173 1.0 intronic rs42518 COL1A2 AR,AD NM_000089 exon18 c.14577+14C>T 0.828075 0.9038 0.809934 0.7815 0.9152 Uncertain 7_94039032_C->T 7 94039032 94039032 C T snp 3339.77 1/1 99 119 0 119 1.0 splicing rs42519 COL1A2 AR,AD NM_000089 exon19 c.14691-2C>T 0.824281 0.9018 0.804090 0.7742 0.9151 ID=CS151749;DIS=Osteogenesis imperfecta;TAG=DM;PUB=25742658 DM Pathogenic 7_94039187_A->G 7 94039187 94039187 A G snp 1053.77 1/1 78 37 0 37 1.0 intronic rs2521206 COL1A2 AR,AD NM_000089 exon19 c.14790+54A>G 0.309505 0.4752 Uncertain 7_94039410_C->G 7 94039410 94039410 C G snp 94.28 1/1 9 3 0 3 1.0 intronic rs2621208 COL1A2 AR,AD NM_000089 exon20 c.15210-143C>G 0.308706 0.4762 Uncertain 7_94039900_C->T 7 94039900 94039900 C T snp 133.03 1/1 12 4 0 4 1.0 intronic rs42520 COL1A2 AR,AD NM_000089 exon21 c.15496+61C>T 0.82508 0.9038 Uncertain 7_94040133_T->A 7 94040133 94040133 T A snp 862.77 1/1 63 27 0 27 1.0 intronic rs389328 COL1A2 AR,AD NM_000089 exon22 c.15857-67T>A 0.920327 0.9752 0.875602 Uncertain 7_94042814_T->C 7 94042814 94042814 T C snp 162.79 0/1 22 6 1 5 0.83 intronic rs3750109 COL1A2 AR,AD NM_000089 exon27 c.18658-187T>C 0.278355 0.3462 Uncertain 7_94043239_C->G 7 94043239 94043239 C G snp 3230.05 1/1 99 114 0 114 1.0 exonic rs42524 COL1A2 AR,AD nonsynonymous SNV NM_000089 exon28 c.C1645G p.P549A 0.821685 0.9067 0.794326 0.7693 0.9151 0.81 T 0.000 P -0.903 T 0.0 T 0.0 T ID=CM040403;DIS=Intracranial aneurysm, susceptibility, association with;TAG=DP;PUB=14739420 DP Pathogenic 7_94043274_A->G 7 94043274 94043274 A G snp 1494.77 0/1 99 112 51 61 0.54 intronic rs421587 COL1A2 AR,AD NM_000089 exon28 c.18916+15A>G 0.247005 0.1657 0.288944 0.2761 0.1495 Uncertain 7_94047050_G->T 7 94047050 94047050 G T snp 617.77 0/1 99 71 41 30 0.42 exonic rs1800238 COL1A2 AR,AD synonymous SNV NM_000089 exon32 c.G1878T p.V626V 0.0992412 0.3681 0.011687 0.0907 0.4590 Uncertain 7_94047904_T->- 7 94047904 94047904 T - indel 721.73 1/1 50 44 5 39 0.89 intronic rs3216182 COL1A2 AR,AD NM_000089 exon33 c.23521+40delT 0.247804 0.1667 0.380192 0.3111 0.1851 Uncertain 7_94048777_TA->- 7 94048777 94048778 TA - indel 2559.73 0/1 99 126 69 57 0.45 intronic rs139401214 COL1A2 AR,AD NM_000089 exon34 c.24466-32_24466-31delTA 0.0994409 0.3681 0.012141 0.0488 0.3605 Uncertain 7_94055885_G->A 7 94055885 94055885 G A snp 1534.77 0/1 99 137 71 66 0.48 intronic rs62464631 COL1A2 AR,AD NM_000089 exon46 c.31499+43G>A 0.0892572 0.1141 0.085796 0.1341 0.1012 Uncertain 7_94056006_A->G 7 94056006 94056006 A G snp 152.77 0/1 99 10 5 5 0.5 intronic rs400218 COL1A2 AR,AD NM_000089 exon46 c.31499+164A>G 0.489018 0.4891 Uncertain 7_94056044_G->T 7 94056044 94056044 G T snp 135.03 1/1 12 4 0 4 1.0 intronic rs2621215 COL1A2 AR,AD NM_000089 exon46 c.31499+202G>T 0.772165 0.8948 Uncertain 7_94056216_G->A 7 94056216 94056216 G A snp 194.77 0/1 99 14 6 8 0.57 intronic rs7805430 COL1A2 AR,AD NM_000089 exon47 c.31976-103G>A 0.0998403 0.1141 Uncertain 7_94056244_C->G 7 94056244 94056244 C G snp 213.77 0/1 99 20 8 12 0.6 intronic rs413826 COL1A2 AR,AD NM_000089 exon47 c.31976-75C>G 0.538738 0.502 Uncertain 7_94056252_AA->- 7 94056252 94056253 AA - indel 761.73 1/1 66 22 0 22 1.0 intronic rs199900944 COL1A2 AR,AD NM_000089 exon47 c.31976-67_31976-66delAA 0.641374 0.8244 Uncertain 7_94056349_C->T 7 94056349 94056349 C T snp 726.77 0/1 99 45 19 26 0.58 exonic rs1800248 COL1A2 AR,AD synonymous SNV NM_000089 exon47 c.C3135T p.G1045G 0.0994409 0.1131 0.101338 0.1223 0.0990 Uncertain 7_94146975_T->G 7 94146975 94146975 T G snp 1014.77 0/1 99 69 24 45 0.65 intronic rs2301646 CASD1 AU NM_022900 exon2 c.7572+7T>G 0.30651 0.3353 0.295248 0.3709 0.2835 Uncertain 7_94157586_T->- 7 94157586 94157586 T - indel 191.73 0/1 89 23 6 17 0.74 intronic rs398005478 CASD1 AU NM_022900 exon5 c.18166+24delT 0.572284 0.5893 0.5325 0.5376 Uncertain 7_94174854_T->C 7 94174854 94174854 T C snp 944.77 0/1 99 67 25 42 0.63 splicing rs3793326 CASD1 AU NM_022900 exon12 c.35460-2T>C 0.560104 0.6935 0.492696 0.5877 0.6773 Pathogenic 7_94175073_T->C 7 94175073 94175073 T C snp 225.77 0/1 99 15 7 8 0.53 intronic rs3793325 CASD1 AU NM_022900 exon12 c.35617+60T>C 0.560104 0.6935 Uncertain 7_94178749_T->C 7 94178749 94178749 T C snp 167.77 0/1 99 20 13 7 0.35 intronic rs10272136 CASD1 AU NM_022900 exon14 c.39448-95T>C 0.560104 0.6935 Uncertain 7_94178761_C->T 7 94178761 94178761 C T snp 939.77 1/1 69 29 0 29 1.0 intronic rs7801436 CASD1 AU NM_022900 exon14 c.39448-83C>T 0.920128 0.999 Uncertain 7_94182373_A->G 7 94182373 94182373 A G snp 285.77 0/1 99 27 16 11 0.41 intronic rs6465417 CASD1 AU NM_022900 exon16 c.42343+634A>G 0.572085 0.6935 Uncertain 7_94183993_G->A 7 94183993 94183993 G A snp 462.77 0/1 99 29 12 17 0.59 intronic rs10280843 CASD1 AU NM_022900 exon17 c.44491+106G>A 0.426118 0.4831 Uncertain 7_94184691_T->A 7 94184691 94184691 T A snp 153.77 0/1 63 10 4 6 0.6 intronic rs10238176 CASD1 AU NM_022900 exon18 c.45407-112T>A 0.440296 0.4831 Uncertain 7_94227276_T->G 7 94227276 94227276 T G snp 43.77 0/1 31 4 1 3 0.75 intronic rs10247562 SGCE AD NM_001099401 exon3 c.12431+35T>G 0.76238 0.7083 0.6954 0.7069 0.1 T 0.0 P -1.003 T 0.0 T 0.0 T Uncertain 7_94227509_G->A 7 94227509 94227509 G A snp 102.77 0/1 99 12 8 4 0.33 intronic rs10232398 SGCE AD NM_001099401 exon3 c.12506+193G>A 0.762979 0.7093 Uncertain 7_94247971_C->A 7 94247971 94247971 C A snp 221.77 0/1 99 17 10 7 0.41 intronic rs6465421 SGCE AD NM_003919 exon7 c.33259-98C>A 0.762979 0.7103 Uncertain 7_94257449_-->AC 7 94257449 94257449 - AC indel 506.73 0/1 99 39 21 18 0.46 intronic rs138881114 SGCE AD NM_003919 exon9 c.42703-64insAC 0.292931 0.2044 Uncertain 7_94539536_C->T 7 94539536 94539536 C T snp 1646.77 0/1 99 117 52 65 0.56 exonic rs12536183 PPP1R9A AU synonymous SNV NM_001166161 exon1 c.C111T p.P37P 0.109625 0.1448 0.068046 0.1067 0.1354 Uncertain 7_94879225_A->T 7 94879225 94879225 A T snp 966.77 1/1 72 33 0 33 1.0 intronic rs12690919 PPP1R9A AU NM_001166162 exon8 c.339912-112A>T 0.687899 0.621 Uncertain 7_94898811_G->A 7 94898811 94898811 G A snp 1058.77 0/1 99 107 60 47 0.44 exonic rs854524 PPP1R9A AU nonsynonymous SNV NM_001166161 exon12 c.G2996A p.R999Q 0.604832 0.619 0.594193 0.5722 0.6613 0.83 T 0.000 P -0.998 T 0.0 T 0.0 T Pathogenic 7_94919525_A->G 7 94919525 94919525 A G snp 1467.77 0/1 99 110 48 62 0.56 exonic rs61749906 PPP1R9A AU synonymous SNV NM_001166163 exon14 c.A3183G p.L1061L 0.109824 0.1131 0.070890 0.0887 0.1297 Uncertain 7_94928210_T->C 7 94928210 94928210 T C snp 1307.77 0/1 99 88 41 47 0.53 UTR3 rs200239395 PON1 AU 0.000599042 0.003 0.0003 0.0037 Uncertain 7_94931434_C->A 7 94931434 94931434 C A snp 193.77 0/1 99 10 4 6 0.6 intronic rs78989182 PON1 AU NM_000446 exon2 c.3261-82C>A Uncertain 7_94937446_T->C 7 94937446 94937446 T C snp 1605.77 0/1 99 141 69 72 0.51 exonic rs662 PON1 AU nonsynonymous SNV NM_000446 exon6 c.A575G p.Q192R 0.542931 0.6657 0.412194 0.3770 0.6614 0.74 T 0.0 P -0.988 T 0.0 T 0.0 T CLINSIG=other|other|other;CLNDBN=Coronary_artery_disease\x2c_susceptibility_to|Coronary_artery_spasm_2\x2c_susceptibility_to|Enzyme_activity_finding;CLNREVSTAT=no_assertion_criteria_provided|no_assertion_criteria_provided|no_assertion_criteria_provided;CLNACC=RCV000014739.1|RCV000014740.1|RCV000133464.2;CLNDSDB=MedGen|MedGen|MedGen:SNOMED_CT;CLNDSDBID=C1840169|C3149706|C1827841:424017009 ID=CM930596;DIS=Longevity, association with;TAG=DFP;PUB=15050299 DFP Pathogenic 7_94937624_G->A 7 94937624 94937624 G A snp 62.77 0/1 91 11 8 3 0.27 intronic rs3917541 PON1 AU NM_000446 exon4 c.9268+101G>A 0.132588 0.1121 Uncertain 7_94941038_G->T 7 94941038 94941038 G T snp 236.77 0/1 99 14 5 9 0.64 intronic rs1157745 PON1 AU NM_000446 exon5 c.12634+149G>T 0.542532 0.6647 Uncertain 7_94953913_G->C 7 94953913 94953913 G C snp 667.77 1/1 51 19 0 19 1.0 upstream rs705380 PON1 AU 0.941693 0.9067 Uncertain 7_94953949_T->C 7 94953949 94953949 T C snp 170.9 1/1 15 5 0 5 1.0 upstream rs705381 PON1 AU 0.743011 0.8681 ID=CR012511;DIS=Paraoxonase activity variant;TAG=FP;PUB=11335891 FP Uncertain 7_94991632_T->C 7 94991632 94991632 T C snp 2159.77 0/1 99 207 114 93 0.45 intronic rs17884000 PON3 AU NM_000940 exon2 c.2389-41T>C 0.279353 0.5992 0.149393 0.2400 0.6096 Uncertain 7_94992244_T->C 7 94992244 94992244 T C snp 227.77 0/1 99 13 6 7 0.54 intronic rs10953143 PON3 AU NM_000940 exon3 c.2869+91T>C 0.530751 0.7401 Uncertain 7_95001555_C->T 7 95001555 95001555 C T snp 1965.77 0/1 99 220 128 92 0.42 exonic rs1053275 PON3 AU synonymous SNV NM_000940 exon4 c.G297A p.A99A 0.660543 0.7788 0.494695 0.5675 0.7943 Uncertain 7_95019355_G->A 7 95019355 95019355 G A snp 489.77 0/1 99 49 30 19 0.39 intronic rs6977389 PON3 AU NM_000940 exon7 c.30181-110G>A 0.622204 0.7569 Uncertain 7_95024046_A->G 7 95024046 95024046 A G snp 2153.77 0/1 99 193 99 94 0.49 intronic rs11970910 PON3 AU NM_000940 exon8 c.34742+20A>G 0.620807 0.7589 0.469553 0.5439 0.7701 Uncertain 7_95025453_G->A 7 95025453 95025453 G A snp 1636.77 0/1 99 142 77 65 0.46 intronic rs2072199 PON3 AU NM_000940 exon9 c.36304-135G>A 0.278554 0.5903 Uncertain 7_95034821_A->T 7 95034821 95034821 A T snp 1391.77 0/1 99 91 38 53 0.58 intronic rs9641164 PON2 AU NM_000305 exon1 c.159+21A>T 0.283746 0.622 0.146625 0.2403 0.6401 Uncertain 7_95125051_TT->- 7 95125051 95125052 TT - indel 636.73 0/1 23 32 5 27 0.84 intronic rs140701495 ASB4 AU NM_145872 exon2 c.9786-18_9786-17delTT 0.4378 0.5253 Uncertain 7_95216247_A->G 7 95216247 95216247 A G snp 170.77 0/1 99 18 11 7 0.39 intronic rs10247649 PDK4 AU NM_002612 exon2 c.1369-74A>G 0.541134 0.8641 Uncertain 7_95216262_A->G 7 95216262 95216262 A G snp 305.77 0/1 99 25 14 11 0.44 intronic rs4729201 PDK4 AU NM_002612 exon2 c.1369-59A>G 0.674121 0.9405 Uncertain 7_95216394_T->G 7 95216394 95216394 T G snp 1316.77 0/1 99 126 65 61 0.48 exonic rs4727323 PDK4 AU synonymous SNV NM_002612 exon10 c.A1023C p.A341A 0.541134 0.8651 0.413655 0.4274 0.8349 Uncertain 7_95221269_C->T 7 95221269 95221269 C T snp 138.77 0/1 99 20 14 6 0.3 intronic rs2301630 PDK4 AU NM_002612 exon6 c.6347-30C>T 0.642173 0.9464 0.489342 0.5242 0.9338 Uncertain 7_95434156_C->G 7 95434156 95434156 C G snp 666.77 0/1 99 62 33 29 0.47 intronic rs41278809 DYNC1I1 AU NM_004411 exon2 c.108+7C>G 0.0535144 0.0198 0.073783 0.0936 0.0313 Uncertain 7_95434286_T->G 7 95434286 95434286 T G snp 224.77 0/1 94 14 4 10 0.71 intronic rs117740906 DYNC1I1 AU NM_004411 exon2 c.108+137T>G 0.00778754 0.0188 Uncertain 7_95442419_T->C 7 95442419 95442419 T C snp 187.77 0/1 99 13 5 8 0.62 intronic rs186463299 DYNC1I1 AU NM_004411 exon4 c.8466-88T>C 0.0157748 0.0248 Uncertain 7_95442690_-->A 7 95442690 95442690 - A indel 128.73 0/1 99 52 25 27 0.52 intronic rs35397709 DYNC1I1 AU NM_004411 exon4 c.8608+41insA 0.447284 0.5109 0.3011 0.3057 Uncertain 7_95447786_T->A 7 95447786 95447786 T A snp 76.77 0/1 99 10 5 5 0.5 intronic rs2375050 DYNC1I1 AU NM_004411 exon4 c.8608+5137T>A 0.1824 0.1731 Uncertain 7_95668664_C->A 7 95668664 95668664 C A snp 915.77 0/1 99 133 89 44 0.33 exonic rs1048666 DYNC1I1 AU synonymous SNV NM_004411 exon14 c.C1491A p.G497G 0.211861 0.3006 0.224896 0.1999 0.3124 Uncertain 7_95709602_C->T 7 95709602 95709602 C T snp 73.77 0/1 99 12 7 5 0.42 intronic rs42083 DYNC1I1 AU NM_004411 exon16 c.275633-72C>T 0.443291 0.5466 Uncertain 7_95709666_C->A 7 95709666 95709666 C A snp 584.77 0/1 99 55 31 24 0.44 intronic rs42082 DYNC1I1 AU NM_004411 exon16 c.275633-8C>A 0.436502 0.5466 0.462479 0.4897 0.5597 Uncertain 7_95727014_T->C 7 95727014 95727014 T C snp 431.77 1/1 33 12 0 12 1.0 UTR3 rs7794344 DYNC1I1 AU 0.899561 0.9911 Uncertain 7_95800820_T->C 7 95800820 95800820 T C snp 986.77 0/1 99 78 41 37 0.47 exonic rs2301629 SLC25A13 AR synonymous SNV NM_014251 exon12 c.A1194G p.L398L 0.409145 0.6071 0.320160 0.3958 0.5796 Uncertain 7_95813831_C->T 7 95813831 95813831 C T snp 608.77 0/1 99 33 14 19 0.58 intronic rs6962870 SLC25A13 AR NM_001160210 exon8 c.63245+84C>T 0.402756 0.6071 Uncertain 7_95814105_C->T 7 95814105 95814105 C T snp 429.77 0/1 99 27 14 13 0.48 intronic rs17848734 SLC25A13 AR NM_001160210 exon9 c.63736-133C>T 0.00199681 0.0099 Uncertain 7_95818444_C->T 7 95818444 95818444 C T snp 325.77 0/1 99 22 10 12 0.55 intronic rs2073976 SLC25A13 AR NM_001160210 exon10 c.68103-161C>T 0.403355 0.6042 Uncertain 7_95818475_G->T 7 95818475 95818475 G T snp 1349.77 1/1 96 48 0 48 1.0 intronic rs6957286 SLC25A13 AR NM_001160210 exon10 c.68103-130G>T 0.983027 1 Uncertain 7_95864108_T->C 7 95864108 95864108 T C snp 649.77 0/1 99 55 26 29 0.53 splicing rs6957975 SLC25A13 AR NM_001160210 exon15 c.113611-5T>C 0.609824 0.4534 0.688990 0.6179 0.4581 Pathogenic 7_96113911_A->G 7 96113911 96113911 A G snp 80.77 0/1 99 6 3 3 0.5 intronic rs78389754 C7orf76 AU NM_001201450 exon2 c.966-225A>G 0.0103834 0.0446 Uncertain 7_96116818_C->T 7 96116818 96116818 C T snp 995.77 0/1 99 84 43 41 0.49 intronic rs80140989 C7orf76 AU NM_001201451 exon2 c.2559+1089C>T 0.00199681 0.0099 Uncertain 7_96338929_A->G 7 96338929 96338929 A G snp 4732.77 1/1 99 167 2 165 0.99 intronic rs10250534 SHFM1 AU NM_006304 exon3 c.20764-70A>G 0.707268 0.8899 Uncertain 7_96651406_A->G 7 96651406 96651406 A G snp 166.9 1/1 15 5 0 5 1.0 intronic rs1207733 DLX5 AR NM_005221 exon2 c.1449-90A>G 0.977835 0.9911 Uncertain 7_96765905_G->A 7 96765905 96765905 G A snp 142.77 0/1 99 23 15 8 0.35 intronic rs140512780 SDHAF3 AU NM_020186 exon1 c.174+18696G>A 0.00119808 0.006 Uncertain 7_97361784_C->T 7 97361784 97361784 C T snp 1095.77 1/1 81 31 0 31 1.0 intronic rs2072100 TAC1 AU 0.509585 0.3542 Uncertain 7_97365522_T->G 7 97365522 97365522 T G snp 785.77 1/1 57 27 0 27 1.0 intronic rs78453589 TAC1 AU NM_003182 exon6 c.3686-88T>G 0.191494 0.2659 Uncertain 7_97369391_T->C 7 97369391 97369391 T C snp 86.28 1/1 9 4 0 4 1.0 UTR3 rs12532490 TAC1 AU 0.203874 0.2659 Uncertain 7_97481812_C->T 7 97481812 97481812 C T snp 915.77 0/1 99 70 32 38 0.54 intronic rs10486011 ASNS AR NM_001178077 exon1 c.210+32C>T 0.172923 0.1091 0.164155 0.1534 0.1108 Uncertain 7_97486213_T->C 7 97486213 97486213 T C snp 94.77 0/1 99 23 17 6 0.26 intronic rs2074891 ASNS AR NM_001178077 exon6 c.4558+85T>C 0.386182 0.5317 Uncertain 7_97487730_G->A 7 97487730 97487730 G A snp 1129.77 0/1 99 103 50 53 0.51 intronic rs41278830 ASNS AR NM_001178077 exon7 c.6147+13G>A 0.135982 0.1002 0.127633 0.1405 0.0990 Uncertain 7_97488146_-->T 7 97488146 97488146 - T indel 620.73 0/1 99 49 24 25 0.51 intronic rs36021744 ASNS AR NM_001178077 exon8 c.6595-19insT 0.345447 0.4563 0.3281 0.4222 Uncertain 7_97488350_A->G 7 97488350 97488350 A G snp 343.77 0/1 99 25 11 14 0.56 intronic rs11773753 ASNS AR NM_001178077 exon8 c.6697+83A>G 0.124401 0.1002 Uncertain 7_97488569_A->T 7 97488569 97488569 A T snp 2525.77 1/1 99 90 0 90 1.0 exonic rs1049674 ASNS AR nonsynonymous SNV NM_133436 exon5 c.T629A p.V210E 0.875998 0.9137 0.800784 0.7948 0.9017 0.4 T 0.001 P -1.003 T 0.0 T 0.0 T Pathogenic 7_97488733_T->C 7 97488733 97488733 T C snp 1136.77 0/1 99 103 56 47 0.46 intronic rs7797354 ASNS AR NM_001178077 exon9 c.7140+23T>C 0.371805 0.5288 0.353660 0.3926 0.5643 Uncertain 7_97493437_A->T 7 97493437 97493437 A T snp 150.77 0/1 99 11 6 5 0.45 intronic rs2302088 ASNS AR NM_001178077 exon10 c.12000-133A>T 0.119808 0.0992 Uncertain 7_97614498_C->T 7 97614498 97614498 C T snp 290.78 1/1 24 9 0 9 1.0 intronic rs11767728 OCM2 AU NM_006188 exon1 c.26+203C>T 0.154752 0.2103 Uncertain 7_97783958_G->A 7 97783958 97783958 G A snp 2270.77 1/1 99 76 0 76 1.0 intronic rs10499943 LMTK2 AU NM_014916 exon5 c.47580-111G>A 0.128195 0.372 Uncertain 7_97788493_C->T 7 97788493 97788493 C T snp 54.74 1/1 6 2 0 2 1.0 intronic rs1532379 LMTK2 AU NM_014916 exon6 c.52160-156C>T 0.120607 0.3353 Uncertain 7_97800993_A->C 7 97800993 97800993 A C snp 396.77 1/1 30 13 0 13 1.0 intronic rs35943072 LMTK2 AU NM_014916 exon7 c.64497+7A>C 0.133586 0.3462 0.032841 0.0969 0.3433 Uncertain 7_97820869_A->- 7 97820869 97820869 A - indel 42.73 0/1 80 48 34 14 0.29 intronic LMTK2 AU NM_014916 exon11 c.84436-56delA Uncertain 7_97821855_T->C 7 97821855 97821855 T C snp 5874.77 1/1 99 216 0 216 1.0 exonic rs56204700 LMTK2 AU nonsynonymous SNV NM_014916 exon11 c.T2078C p.I693T 0.128195 0.374 0.019695 0.0850 0.3613 0.29 T 0.000 P -1.077 T 0.0 T 0.001 T Pathogenic 7_97823125_G->A 7 97823125 97823125 G A snp 6571.77 1/1 99 237 0 237 1.0 exonic rs3801296 LMTK2 AU synonymous SNV NM_014916 exon11 c.G3348A p.R1116R 0.127596 0.3552 0.025527 0.0842 0.3483 Uncertain 7_97823629_A->G 7 97823629 97823629 A G snp 7087.77 1/1 99 250 0 250 1.0 exonic rs10268268 LMTK2 AU synonymous SNV NM_014916 exon11 c.A3852G p.A1284A 0.13139 0.373 0.025834 0.0855 0.3607 Uncertain 7_97841618_G->C 7 97841618 97841618 G C snp 2299.77 1/1 99 95 2 93 0.98 UTR5 rs10270045 BHLHA15 AU 0.125 0.3462 0.015222 0.1502 0.3895 Uncertain 7_97846857_GAG->- 7 97846857 97846859 GAG - indel 3700.73 1/1 99 68 0 68 1.0 intronic rs11471393 TECPR1 AU NM_015395 exon1 c.114+42_114+44delGAG 0.75619 0.9464 0.769387 0.8142 0.9489 Uncertain 7_97847040_G->A 7 97847040 97847040 G A snp 185.77 0/1 99 43 32 11 0.26 exonic rs2279676 TECPR1 AU synonymous SNV NM_015395 exon25 c.C3348T p.H1116H 0.207668 0.2589 0.141248 0.1490 0.2717 Uncertain 7_97847459_T->G 7 97847459 97847459 T G snp 218.77 0/1 93 11 4 7 0.64 intronic rs56009323 TECPR1 AU NM_015395 exon3 c.653+105T>G 0.20008 0.2589 Uncertain 7_97851109_T->C 7 97851109 97851109 T C snp 827.77 1/1 63 25 0 25 1.0 intronic rs4729416 TECPR1 AU NM_015395 exon4 c.4364+44T>C 0.9998 1 0.999692 0.9999 1 Uncertain 7_97852399_G->A 7 97852399 97852399 G A snp 1346.77 0/1 99 157 99 58 0.37 exonic rs11762014 TECPR1 AU nonsynonymous SNV NM_015395 exon21 c.C2831T p.P944L 0.214257 0.2609 0.168419 0.2383 0.3241 0.47 T 1.000 P -0.953 T 0.663 T 0.036 P Pathogenic 7_97852586_G->T 7 97852586 97852586 G T snp 150.77 0/1 99 10 4 6 0.6 intronic rs11762703 TECPR1 AU NM_015395 exon6 c.5781+104G>T 0.214058 0.2609 Uncertain 7_97852895_G->A 7 97852895 97852895 G A snp 507.77 0/1 99 51 29 22 0.43 intronic rs2270596 TECPR1 AU NM_015395 exon7 c.6272-78G>A 0.214058 0.2609 Uncertain 7_97852899_A->G 7 97852899 97852899 A G snp 1620.77 1/1 99 54 0 54 1.0 intronic rs2270595 TECPR1 AU NM_015395 exon7 c.6272-74A>G 0.796526 0.9464 Uncertain 7_97853184_G->A 7 97853184 97853184 G A snp 192.77 0/1 99 12 5 7 0.58 intronic rs3816943 TECPR1 AU NM_015395 exon7 c.6329+154G>A 0.214058 0.2609 Uncertain 7_97858647_G->A 7 97858647 97858647 G A snp 468.77 0/1 99 30 15 15 0.5 intronic rs2270603 TECPR1 AU NM_015395 exon11 c.11777+169G>A 0.209065 0.2589 Uncertain 7_97865936_T->C 7 97865936 97865936 T C snp 38.77 0/1 31 3 1 2 0.67 intronic rs56229643 TECPR1 AU NM_015395 exon17 c.19386-151T>C 0.253794 0.2589 Uncertain 7_97866065_C->G 7 97866065 97866065 C G snp 773.77 0/1 99 63 29 34 0.54 intronic rs3735257 TECPR1 AU NM_015395 exon17 c.19386-22C>G 0.00958466 0.0466 0.0059 0.0871 Uncertain 7_97866291_G->A 7 97866291 97866291 G A snp 1417.77 0/1 99 113 57 56 0.5 intronic rs3735258 TECPR1 AU NM_015395 exon17 c.19532+58G>A 0.291134 0.4524 Uncertain 7_97873994_G->A 7 97873994 97873994 G A snp 1842.77 0/1 99 180 98 82 0.46 exonic rs1874344 TECPR1 AU synonymous SNV NM_015395 exon5 c.C420T p.Y140Y 0.302117 0.4534 0.222863 0.2849 0.4808 Uncertain 7_97874094_C->T 7 97874094 97874094 C T snp 1371.77 0/1 99 106 51 55 0.52 intronic rs903592 TECPR1 AU NM_015395 exon22 c.27304+89C>T 0.267372 0.4534 Uncertain 7_97874143_C->A 7 97874143 97874143 C A snp 1370.77 0/1 99 101 54 47 0.47 intronic rs3816944 TECPR1 AU NM_015395 exon23 c.27495-53C>A 0.252796 0.2579 Uncertain 7_97920270_T->C 7 97920270 97920270 T C snp 217.77 0/1 99 20 12 8 0.4 intronic rs7778015 BRI3 AU NM_015379 exon3 c.9315-152T>C 0.28734 0.2688 Uncertain 7_97921834_A->G 7 97921834 97921834 A G snp 114.77 0/1 99 9 5 4 0.44 UTR3 rs6465664 BAIAP2L1 AU 0.287141 0.2679 Uncertain 7_97922773_T->C 7 97922773 97922773 T C snp 413.77 0/1 99 22 9 13 0.59 UTR3 rs12873 BAIAP2L1 AU 0.28734 0.2688 0.426632 Uncertain 7_97922851_C->T 7 97922851 97922851 C T snp 929.77 0/1 99 62 21 41 0.66 exonic rs12728 BAIAP2L1 AU synonymous SNV NM_018842 exon14 c.G1518A p.S506S 0.266174 0.2688 0.401276 0.3941 0.2657 Uncertain 7_97933601_C->T 7 97933601 97933601 C T snp 3961.77 1/1 99 147 0 147 1.0 exonic rs1045916 BAIAP2L1 AU synonymous SNV NM_018842 exon12 c.G1329A p.L443L 0.555711 0.6915 0.622328 0.6689 0.7034 Uncertain 7_97935671_C->G 7 97935671 97935671 C G snp 1400.77 0/1 99 141 77 64 0.45 intronic rs13232181 BAIAP2L1 AU NM_018842 exon4 c.12918-79C>G 0.290735 0.2629 Uncertain 7_97937258_T->C 7 97937258 97937258 T C snp 3032.77 0/1 99 250 131 119 0.48 intronic rs6465666 BAIAP2L1 AU NM_018842 exon5 c.14376+50T>C 0.264177 0.2629 0.400200 0.3896 0.2589 Uncertain 7_97944744_G->A 7 97944744 97944744 G A snp 1003.77 0/1 99 73 31 42 0.58 intronic rs2107716 BAIAP2L1 AU NM_018842 exon8 c.21939-27G>A 0.291534 0.2629 0.427264 0.4072 0.2593 Uncertain 7_97944931_-->AATAAT 7 97944931 97944931 - AATAAT indel 576.73 0/1 99 17 3 14 0.82 intronic rs201588264 BAIAP2L1 AU NM_018842 exon8 c.22092+7insAATAAT 0.343959 Uncertain 7_97944934_A->T 7 97944934 97944934 A T snp 154.78 0/1 27 10 2 8 0.8 intronic rs11385557 BAIAP2L1 AU NM_018842 exon8 c.22092+10A>T 0.20607 0.2113 0.070350 0.0175 0.0067 Uncertain 7_97944937_A->T 7 97944937 97944937 A T snp 169.78 0/1 27 10 2 8 0.8 intronic rs10647784 BAIAP2L1 AU NM_018842 exon8 c.22092+13A>T 0.229433 0.2113 0.062906 0.0248 0.0088 Uncertain 7_97944986_G->A 7 97944986 97944986 G A snp 104.28 1/1 9 5 0 5 1.0 intronic rs6963210 BAIAP2L1 AU NM_018842 exon8 c.22092+62G>A 0.292332 0.2629 Uncertain 7_97991792_A->G 7 97991792 97991792 A G snp 588.77 0/1 99 54 28 26 0.48 intronic rs3801257 BAIAP2L1 AU NM_018842 exon13 c.68912+48A>G 0.292133 0.2629 0.425266 0.3989 0.2619 Uncertain 7_98460824_C->A 7 98460824 98460824 C A snp 7104.77 1/1 99 250 0 250 1.0 exonic TMEM130 AU synonymous SNV NM_001134450 exon2 c.G285T p.V95V 0.686502 0.877 0.684223 0.8130 0.8702 Uncertain 7_98461062_G->A 7 98461062 98461062 G A snp 2467.77 1/1 99 82 0 82 1.0 intronic TMEM130 AU NM_001134450 exon7 c.15345+39G>A 0.875799 0.876 0.895417 0.9041 0.8726 Uncertain 7_98495304_G->T 7 98495304 98495304 G T snp 53.74 1/1 6 4 0 4 1.0 intronic TRRAP AU NM_003496 exon8 c.16590-59G>T 0.827875 0.7817 Uncertain 7_98500842_A->G 7 98500842 98500842 A G snp 136.03 1/1 12 4 0 4 1.0 intronic TRRAP AU NM_003496 exon12 c.22228-159A>G 0.904952 0.7639 Uncertain 7_98500956_C->T 7 98500956 98500956 C T snp 2451.77 1/1 99 86 0 86 1.0 intronic TRRAP AU NM_003496 exon12 c.22228-45C>T 0.668331 0.7659 0.688990 0.8103 0.7387 Uncertain 7_98503708_G->- 7 98503708 98503708 G - indel 1996.73 1/1 99 48 0 48 1.0 intronic TRRAP AU NM_003496 exon13 c.25026-91delG 0.874601 0.754 Uncertain 7_98513300_C->T 7 98513300 98513300 C T snp 923.77 1/1 69 32 0 32 1.0 intronic TRRAP AU NM_003496 exon19 c.34572-45C>T 0.672524 0.7569 0.694295 0.8074 0.7332 Uncertain 7_98550655_TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG->- 7 98550655 98550686 TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG - indel 10928.7 1/1 96 32 0 32 1.0 intronic TRRAP AU NM_003496 exon38 c.72016-134_72016-103delTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG Uncertain 7_98551152_C->T 7 98551152 98551152 C T snp 457.77 1/1 36 12 0 12 1.0 intronic TRRAP AU NM_003496 exon38 c.72283+96C>T 0.667133 0.752 Uncertain 7_98553739_-->C 7 98553739 98553739 - C indel 852.73 1/1 66 22 0 22 1.0 intronic TRRAP AU NM_003496 exon40 c.74995-29insC 0.871605 0.7887 0.903594 0.8975 0.7577 Uncertain 7_98558880_G->C 7 98558880 98558880 G C snp 3377.77 1/1 99 113 0 113 1.0 splicing rs160384 TRRAP AU NM_003496 exon44 c.80110-3G>C 0.886981 0.7847 0.915962 0.9007 0.7524 Pathogenic 7_98637916_A->G 7 98637916 98637916 A G snp 337.77 0/1 99 29 14 15 0.52 intronic rs59939979 SMURF1 AU NM_181349 exon6 c.9794-84A>G 0.0615016 0.126 Uncertain 7_98645517_G->A 7 98645517 98645517 G A snp 571.77 0/1 99 29 9 20 0.69 intronic rs219824 SMURF1 AU NM_181349 exon9 c.17299+12G>A 0.498203 0.4157 0.465939 0.3842 0.4014 Uncertain 7_98645565_C->G 7 98645565 98645565 C G snp 191.77 0/1 99 9 3 6 0.67 intronic rs219825 SMURF1 AU NM_181349 exon9 c.17299+60C>G 0.519968 0.4494 Uncertain 7_98645582_G->A 7 98645582 98645582 G A snp 40.77 0/1 69 5 3 2 0.4 intronic rs548836507 SMURF1 AU NM_181349 exon9 c.17299+77G>A 0.000199681 0.001 Uncertain 7_98647139_C->T 7 98647139 98647139 C T snp 856.77 0/1 99 59 25 34 0.58 intronic rs219826 SMURF1 AU NM_181349 exon10 c.18979-46C>T 0.34405 0.4405 0.300015 0.3313 0.4206 Uncertain 7_98648518_G->- 7 98648518 98648518 G - indel 714.73 0/1 99 61 29 32 0.52 intronic rs398047883 SMURF1 AU NM_020429 exon11 c.20331-19delG 0.6610 0.7226 Uncertain 7_98649628_A->G 7 98649628 98649628 A G snp 37.77 0/1 66 4 2 2 0.5 intronic rs2008258 SMURF1 AU NM_181349 exon12 c.21621-199A>G 0.689297 0.6518 Uncertain 7_98650051_G->C 7 98650051 98650051 G C snp 1114.77 0/1 99 109 60 49 0.45 exonic rs219797 SMURF1 AU synonymous SNV NM_001199847 exon7 c.C498G p.S166S 0.68151 0.6498 0.640166 0.5630 0.6385 Uncertain 7_98650099_T->C 7 98650099 98650099 T C snp 462.77 0/1 99 42 23 19 0.45 intronic rs219798 SMURF1 AU NM_181349 exon12 c.21863+30T>C 0.529952 0.4623 0.503691 0.4134 0.4351 Uncertain 7_98655223_G->T 7 98655223 98655223 G T snp 323.77 0/1 99 31 18 13 0.42 intronic rs61690993 SMURF1 AU NM_181349 exon15 c.26968+49G>T 0.651957 0.5784 0.5649 0.5790 Uncertain 7_98655224_-->GTTTG 7 98655224 98655224 - GTTTG indel 428.73 0/1 99 32 18 14 0.44 intronic SMURF1 AU NM_181349 exon15 c.26968+50insGTTTG Uncertain 7_98658131_T->- 7 98658131 98658131 T - indel 610.73 0/1 99 72 38 34 0.47 intronic rs11311529 SMURF1 AU NM_181349 exon16 c.30015-90delT 0.485623 0.5764 Uncertain 7_98771400_T->C 7 98771400 98771400 T C snp 2213.77 0/1 99 168 75 93 0.55 exonic KPNA7 AU synonymous SNV NM_001145715 exon10 c.A1482G p.Q494Q Uncertain 7_98775453_C->T 7 98775453 98775453 C T snp 248.77 0/1 99 14 6 8 0.57 intronic rs17161599 KPNA7 AU NM_001145715 exon2 c.4212-89C>T 0.0824681 0.0764 Uncertain 7_98775511_T->C 7 98775511 98775511 T C snp 1019.77 0/1 99 67 25 42 0.63 intronic rs62473048 KPNA7 AU NM_001145715 exon2 c.4212-31T>C 0.203674 0.1141 0.206746 0.2584 0.1435 Uncertain 7_98779740_G->T 7 98779740 98779740 G T snp 3099.77 1/1 99 119 0 119 1.0 intronic rs6465740 KPNA7 AU NM_001145715 exon3 c.8358+52G>T 0.997604 1 0.997591 Uncertain 7_98782750_C->T 7 98782750 98782750 C T snp 2320.77 0/1 99 162 65 97 0.6 exonic rs10953283 KPNA7 AU synonymous SNV NM_001145715 exon7 c.G936A p.T312T 0.448083 0.6746 0.491678 0.5272 0.6506 Uncertain 7_98785818_A->G 7 98785818 98785818 A G snp 218.84 1/1 18 9 2 7 0.78 intronic rs12673020 KPNA7 AU NM_001145715 exon5 c.14592-104A>G Uncertain 7_98793797_A->G 7 98793797 98793797 A G snp 1283.77 0/1 99 111 53 58 0.52 intronic rs144059555 KPNA7 AU NM_001145715 exon8 c.22459+8A>G 0.00119808 0.006 0.0002 0.0084 Uncertain 7_98933250_G->A 7 98933250 98933250 G A snp 109.77 0/1 66 6 2 4 0.67 intronic rs12705058 ARPC1A AU NM_001190996 exon2 c.24+2210G>A 0.185703 0.2312 Uncertain 7_98984213_G->A 7 98984213 98984213 G A snp 1264.77 0/1 99 101 47 54 0.53 intronic rs28377312 ARPC1B AU NM_005720 exon3 c.970-94G>A 0.0573083 0.0327 Uncertain 7_98984354_G->C 7 98984354 98984354 G C snp 705.77 0/1 99 78 51 27 0.35 exonic rs1045012 ARPC1B AU nonsynonymous SNV NM_005720 exon3 c.G111C p.K37N 0.0780751 0.0327 0.080501 0.0579 0.0294 0.36 T 1.000 P -0.988 T 0.994 D 0.929 D Pathogenic 7_98990236_T->C 7 98990236 98990236 T C snp 142.77 0/1 99 12 7 5 0.42 intronic rs10251282 ARPC1B AU NM_005720 exon8 c.6956-57T>C 0.0776757 0.0327 Uncertain 7_98994492_C->T 7 98994492 98994492 C T snp 525.77 0/1 99 49 29 20 0.41 intronic rs115279860 PDAP1 AU NM_014891 exon1 c.59+129C>T 0.0565096 0.0327 Uncertain 7_98995724_G->A 7 98995724 98995724 G A snp 1323.77 0/1 99 117 57 60 0.51 intronic rs75944999 PDAP1 AU NM_014891 exon2 c.1332+88G>A 0.0289537 0.0327 Uncertain 7_98998153_G->A 7 98998153 98998153 G A snp 2092.77 0/1 99 181 93 88 0.49 intronic rs28668326 PDAP1 AU NM_014891 exon3 c.3743+106G>A 0.0776757 0.0327 Uncertain 7_99014984_T->C 7 99014984 99014984 T C snp 242.77 0/1 99 31 19 12 0.39 UTR3 rs2003499 ATP5J2-PTCD1 AU 0.292532 0.0357 Uncertain 7_99017737_G->A 7 99017737 99017737 G A snp 1543.77 0/1 99 162 95 67 0.41 exonic rs114658645 ATP5J2-PTCD1 AU synonymous SNV NM_015545 exon8 c.C1956T p.D652D 0.033147 0.0486 0.030140 0.0451 0.0517 Uncertain 7_99023246_C->G 7 99023246 99023246 C G snp 315.77 0/1 99 44 26 18 0.41 intronic rs28457808 ATP5J2-PTCD1 AU NM_001198879 exon3 c.5650+7C>G 0.468051 0.3383 0.352844 0.3250 0.3858 Uncertain 7_99032517_G->A 7 99032517 99032517 G A snp 575.77 0/1 99 66 41 25 0.38 exonic rs34943973 ATP5J2-PTCD1 AU nonsynonymous SNV NM_015545 exon2 c.C349T p.R117W 0.0427316 0.0327 0.042596 0.0466 0.0312 0.19 T 1 N -0.944 T 0.85 T 0.34 P Pathogenic 7_99047978_T->C 7 99047978 99047978 T C snp 2302.77 0/1 99 203 102 101 0.5 exonic rs883403 CPSF4 AU synonymous SNV NM_001081559 exon4 c.T387C p.R129R 0.454673 0.3403 0.356297 0.2717 0.3321 1.000 P -1.020 T Likely benign 7_99048143_C->A 7 99048143 99048143 C A snp 74.77 0/1 99 8 5 3 0.38 intronic rs45529541 ATP5J2-PTCD1 AU NM_001198879 exon8 c.40119-9565C>A 0.107228 0.0317 Uncertain 7_99048432_T->C 7 99048432 99048432 T C snp 669.77 0/1 99 72 41 31 0.43 intronic rs2280600 ATP5J2-PTCD1 AU NM_001198879 exon8 c.40119-9276T>C 0.454673 0.3403 0.355682 0.2707 0.3340 Uncertain 7_99050039_G->A 7 99050039 99050039 G A snp 1421.77 0/1 99 116 57 59 0.51 exonic rs17854665 CPSF4 AU synonymous SNV NM_001081559 exon6 c.G546A p.P182P 0.0920527 0.0317 0.092034 0.0604 0.0312 1.000 P -1.063 T Likely benign 7_99054289_T->G 7 99054289 99054289 T G snp 575.77 0/1 99 41 20 21 0.51 UTR3 rs1043466 CPSF4 AU 0.465455 0.3403 0.3262 0.3886 Uncertain 7_99055940_T->C 7 99055940 99055940 T C snp 435.77 0/1 99 46 26 20 0.43 UTR3 rs3528 ATP5J2 AU 0.107628 0.0327 0.104644 0.0696 0.0326 Uncertain 7_99056099_T->C 7 99056099 99056099 T C snp 256.77 0/1 99 29 18 11 0.38 intronic rs2280601 ATP5J2 AU NM_004889 exon1 c.29+121T>C 0.466454 0.3442 Uncertain 7_99057701_G->A 7 99057701 99057701 G A snp 404.77 0/1 99 44 29 15 0.34 intronic rs2293256 ATP5J2 AU NM_004889 exon3 c.1759-7G>A 0.091853 0.0327 0.091881 0.0608 0.0315 Uncertain 7_99058396_T->C 7 99058396 99058396 T C snp 50.74 1/1 6 2 0 2 1.0 intronic rs79285548 ATP5J2 AU NM_004889 exon3 c.1867+580T>C 0.0301518 0.0327 Uncertain 7_99081595_C->T 7 99081595 99081595 C T snp 1843.77 0/1 99 154 79 75 0.49 intronic rs73711293 ZNF789 AU NM_213603 exon4 c.7573-57C>T 0.0569089 0.0317 Uncertain 7_99081730_A->G 7 99081730 99081730 A G snp 1671.77 0/1 99 157 85 72 0.46 exonic rs6962772 ZNF789 AU nonsynonymous SNV NM_213603 exon4 c.A229G p.T77A 0.463458 0.3393 0.362986 0.2722 0.3346 0.81 T 0.726 P -0.998 T 0.0 T 0.0 T Pathogenic 7_99082928_C->T 7 99082928 99082928 C T snp 1867.77 0/1 99 146 74 72 0.49 intronic rs79878591 ZNF789 AU NM_213603 exon4 c.7687+1162C>T 0.0275559 0.0317 0.0386 0.0297 Uncertain 7_99091599_C->T 7 99091599 99091599 C T snp 3087.77 0/1 99 239 118 121 0.51 exonic rs78336331 ZNF394 AU synonymous SNV NM_032164 exon3 c.G1239A p.P413P 0.0191693 0.0327 0.011994 0.0240 0.0313 Uncertain 7_99130875_G->A 7 99130875 99130875 G A snp 470.77 0/1 99 50 30 20 0.4 UTR3 rs3137 ZKSCAN5 AU 0.451677 0.3333 0.3001 0.3462 Uncertain 7_99145845_C->T 7 99145845 99145845 C T snp 2651.77 0/1 99 242 124 118 0.49 exonic rs10238965 FAM200A AU synonymous SNV NM_145111 exon2 c.G186A p.L62L 0.462061 0.3353 0.362210 0.4033 0.4328 Uncertain 7_99293475_T->A 7 99293475 99293475 T A snp 4858.77 1/1 99 171 0 171 1.0 splicing rs2740565 CYP3A7-CYP3A51P AU NM_001256497 exon2 c.10621+6T>A 0.646565 0.7133 0.765783 0.8149 0.7387 Pathogenic 7_99293859_-->T 7 99293859 99293859 - T indel 150.9 0/1 14 35 2 33 0.94 intronic rs11401860 CYP3A7-CYP3A51P AU NM_001256497 exon2 c.10621+390insT 0.524161 0.5764 Uncertain 7_99297601_A->C 7 99297601 99297601 A C snp 2774.77 1/1 99 103 0 103 1.0 intronic rs2037500 CYP3A7-CYP3A51P AU NM_001256497 exon2 c.10621+4132A>C 0.954872 1 Uncertain 7_99297804_C->T 7 99297804 99297804 C T snp 541.77 1/1 42 16 0 16 1.0 intronic rs2177180 CYP3A7-CYP3A51P AU NM_001256497 exon2 c.10621+4335C>T 0.645367 0.7113 Uncertain 7_99302994_C->T 7 99302994 99302994 C T snp 3315.77 1/1 99 119 0 119 1.0 UTR3 rs10211 CYP3A7 AU 0.645567 0.7113 Uncertain 7_99303094_G->A 7 99303094 99303094 G A snp 4742.77 1/1 99 174 0 174 1.0 UTR3 rs12360 CYP3A7 AU 0.645367 0.7113 0.748347 0.8076 0.7281 Uncertain 7_99305742_C->T 7 99305742 99305742 C T snp 331.77 0/1 99 25 14 11 0.44 intronic CYP3A7 AU NM_000765 exon2 c.2475+145C>T Uncertain 7_99306566_C->T 7 99306566 99306566 C T snp 1583.77 1/1 99 49 0 49 1.0 intronic rs2687077 CYP3A7 AU NM_000765 exon3 c.3535-91C>T 0.669728 0.7133 Uncertain 7_99306685_C->G 7 99306685 99306685 C G snp 5334.77 1/1 99 199 0 199 1.0 exonic rs2257401 CYP3A7 AU nonsynonymous SNV NM_000765 exon11 c.G1226C p.R409T 0.669529 0.7123 0.763955 0.8133 0.7306 0.16 T 0.000 P -1.005 T 0.0 T 0.0 T ID=CM058399;DIS=Altered enzyme activity;TAG=FP;PUB=15903124 FP Pathogenic 7_99314986_A->G 7 99314986 99314986 A G snp 5815.77 1/1 99 205 0 205 1.0 intronic rs2687075 CYP3A7 AU NM_000765 exon8 c.11766+98A>G 0.667532 0.7103 Uncertain 7_99365943_C->A 7 99365943 99365943 C A snp 1721.77 1/1 99 66 0 66 1.0 intronic rs2687116 CYP3A4 AU NM_001202855 exon7 c.10221-33C>A 0.779752 0.995 0.772105 0.9115 0.9982 Uncertain 7_99370493_T->C 7 99370493 99370493 T C snp 1332.77 1/1 99 42 0 42 1.0 intronic rs2738258 CYP3A4 AU NM_001202855 exon10 c.14557+181T>C 0.883387 1 Uncertain 7_99436198_G->A 7 99436198 99436198 G A snp 313.77 0/1 99 27 14 13 0.48 intronic rs800672 CYP3A43 AU NM_001278921 exon3 c.10561-101G>A 0.548922 0.3333 Uncertain 7_99445246_T->C 7 99445246 99445246 T C snp 321.77 0/1 99 28 16 12 0.43 intronic rs747234562 CYP3A43 AU NM_057095 exon5 c.19486+22T>C 0.0002 0.0025 Uncertain 7_99567859_TTTTTTG->- 7 99567859 99567865 TTTTTTG - indel 1674.73 0/1 99 39 12 27 0.69 intronic rs140897498 AZGP1 AU NM_001185 exon3 c.4743-1509_4743-1503delTTTTTTG 0.490016 0.3353 Uncertain 7_99567908_C->T 7 99567908 99567908 C T snp 394.77 0/1 99 25 8 17 0.68 intronic rs2527917 AZGP1 AU NM_001185 exon3 c.4743-1460C>T 0.490016 0.3353 Uncertain 7_99569394_G->A 7 99569394 99569394 G A snp 828.77 0/1 99 73 38 35 0.48 exonic rs17295356 AZGP1 AU synonymous SNV NM_001185 exon2 c.C312T p.I104I 0.374401 0.6409 0.304706 0.3987 0.6642 Uncertain 7_99578370_T->G 7 99578370 99578370 T G snp 605.77 0/1 99 72 42 30 0.42 upstream rs62484968 AZGP1P1 AU 0.0188 0.0523 Uncertain 7_99578381_T->C 7 99578381 99578381 T C snp 678.77 0/1 99 85 50 35 0.41 upstream rs62484969 AZGP1P1 AU 0.0130 0.0279 Uncertain 7_99578411_T->C 7 99578411 99578411 T C snp 889.77 0/1 99 116 67 49 0.42 ncRNA_exonic rs62484970 AZGP1P1 AU 0.2259 0.3870 Uncertain 7_99578535_G->A 7 99578535 99578535 G A snp 476.77 0/1 99 66 44 22 0.33 ncRNA_intronic rs137865884 AZGP1P1 AU Uncertain 7_99578575_C->T 7 99578575 99578575 C T snp 37.77 0/1 66 22 19 3 0.14 ncRNA_intronic AZGP1P1 AU Uncertain 7_99578579_T->C 7 99578579 99578579 T C snp 46.77 0/1 75 20 17 3 0.15 ncRNA_intronic AZGP1P1 AU Uncertain 7_99580907_C->G 7 99580907 99580907 C G snp 1360.77 0/1 99 107 47 60 0.56 ncRNA_exonic rs2301806 AZGP1P1 AU 0.38758 0.6488 0.4595 0.6917 Uncertain 7_99589843_A->G 7 99589843 99589843 A G snp 173.77 0/1 99 18 12 6 0.33 intergenic rs66748925 AZGP1P1 AU 0.384185 0.6448 Uncertain 7_99654600_A->G 7 99654600 99654600 A G snp 1033.77 1/1 75 34 0 34 1.0 UTR5 rs11558475 ZSCAN21 AU 0.314696 0.4454 0.245118 0.3214 0.4913 Uncertain 7_99654689_G->A 7 99654689 99654689 G A snp 1619.77 1/1 99 64 0 64 1.0 exonic rs11558476 ZSCAN21 AU synonymous SNV NM_145914 exon2 c.G60A p.Q20Q 0.3125 0.4454 0.242503 0.3200 0.4912 Uncertain 7_99673359_A->C 7 99673359 99673359 A C snp 865.77 1/1 63 28 0 28 1.0 intronic rs56054049 ZNF3 AU NM_001278292 exon3 c.4488+106A>C 0.313099 0.4454 Uncertain 7_99686873_G->T 7 99686873 99686873 G T snp 3996.77 1/1 99 136 0 136 1.0 intronic rs4729575 COPS6 AU NM_006833 exon2 c.299-39G>T 0.261581 0.4008 0.199754 0.2772 0.4487 Uncertain 7_99691740_G->A 7 99691740 99691740 G A snp 5063.77 1/1 99 179 0 179 1.0 intronic rs1527423 MCM7 AU NM_182776 exon3 c.1241-55G>A 0.536941 0.8026 0.457961 0.5480 0.8363 Uncertain 7_99692993_G->T 7 99692993 99692993 G T snp 617.77 1/1 45 26 0 26 1.0 intronic rs2261360 MCM7 AU NM_182776 exon4 c.2455-16G>T 0.260383 0.4058 0.195448 0.3047 0.4706 Uncertain 7_99693078_G->A 7 99693078 99693078 G A snp 1383.77 1/1 99 53 0 53 1.0 exonic rs12267 MCM7 AU synonymous SNV NM_001278595 exon11 c.C1083T p.I361I 0.259984 0.4048 0.196294 0.2746 0.4459 Uncertain 7_99693337_T->C 7 99693337 99693337 T C snp 309.78 1/1 24 11 0 11 1.0 intronic rs7799115 MCM7 AU NM_182776 exon5 c.2842-59T>C 0.995607 1 Uncertain 7_99696370_C->G 7 99696370 99696370 C G snp 2090.77 1/1 99 79 0 79 1.0 intronic rs1534309 MCM7 AU NM_182776 exon10 c.5784+32C>G 0.820088 0.8522 0.803322 0.8112 0.8806 Uncertain 7_99697041_-->A 7 99697041 99697041 - A indel 50.19 1/1 4 16 1 15 0.94 intronic rs781373138 MCM7 AU NM_182776 exon11 c.6472+15insA 0.1579 0.1726 Uncertain 7_99699356_A->G 7 99699356 99699356 A G snp 927.77 0/1 99 93 49 44 0.47 exonic rs762494123 AP4M1 AR nonsynonymous SNV NM_004722 exon1 c.A19G p.I7V 3.321e-05 0.0005 0.18 T 1 D 0.068 D 0.963 D 0.93 D Pathogenic 7_99699436_G->A 7 99699436 99699436 G A snp 3445.77 1/1 99 124 1 123 0.99 UTR5 rs1122598 MCM7 AU 0.20008 0.37 0.133354 0.2097 0.4165 Uncertain 7_99699626_T->C 7 99699626 99699626 T C snp 1749.77 1/1 99 61 0 61 1.0 intronic rs2293481 AP4M1 AR NM_004722 exon2 c.254+35T>C 0.654752 0.8472 0.583115 0.6225 0.8815 Uncertain 7_99700864_A->G 7 99700864 99700864 A G snp 419.77 1/1 33 11 0 11 1.0 intronic rs999886 AP4M1 AR NM_004722 exon5 c.1694-167A>G 0.654153 0.8442 Uncertain 7_99701176_G->A 7 99701176 99701176 G A snp 1862.77 1/1 99 61 0 61 1.0 intronic rs999885 AP4M1 AR NM_004722 exon5 c.1805+34G>A 0.537141 0.8075 0.449716 0.5456 0.8388 ID=CR124123;DIS=Hepatocellular carcinoma, increased risk, association with;TAG=DP;PUB=22393390 DP Uncertain 7_99701640_T->C 7 99701640 99701640 T C snp 3807.77 1/1 99 143 0 143 1.0 intronic rs4729577 AP4M1 AR NM_004722 exon7 c.2377-74T>C 0.656949 0.8472 Uncertain 7_99701668_C->T 7 99701668 99701668 C T snp 1703.77 0/1 99 183 107 76 0.42 intronic AP4M1 AR NM_004722 exon7 c.2377-46C>T Uncertain 7_99704827_A->G 7 99704827 99704827 A G snp 449.77 1/1 36 13 0 13 1.0 UTR3 rs1050542 TAF6 AR 0.60603 0.8562 0.531201 0.5941 0.8859 Uncertain 7_99704999_G->A 7 99704999 99704999 G A snp 1447.77 0/1 99 120 61 59 0.49 exonic rs79147701 TAF6 AR nonsynonymous SNV NM_005641 exon15 c.C1904T p.P635L 0.00339457 0.0169 0.0020 0.0253 0.01 T 0.997 D -0.852 T 1.0 D 0.995 D Pathogenic 7_99706303_A->G 7 99706303 99706303 A G snp 346.78 1/1 27 12 0 12 1.0 intronic rs4134923 TAF6 AR NM_001190415 exon3 c.1295+140A>G 0.657947 0.8472 Uncertain 7_99707712_A->G 7 99707712 99707712 A G snp 4839.77 1/1 99 172 0 172 1.0 intronic rs2272338 TAF6 AR NM_001190415 exon4 c.2828+16A>G 0.657947 0.8472 0.573581 0.6124 0.8795 Uncertain 7_99707950_C->T 7 99707950 99707950 C T snp 2230.77 1/1 99 75 0 75 1.0 intronic rs4134917 TAF6 AR NM_001190415 exon5 c.3029+53C>T 0.654952 0.8472 0.584538 0.6109 0.8788 Uncertain 7_99710584_-->G 7 99710584 99710584 - G indel 2110.73 1/1 99 55 0 55 1.0 intronic rs397759758 TAF6 AR NM_001190415 exon10 c.5672+44insG 0.655351 0.8472 0.573403 0.6107 0.8792 Uncertain 7_99711462_C->- 7 99711462 99711462 C - indel 4811.73 1/1 99 177 1 176 0.99 intronic rs34119670 TAF6 AR NM_001190415 exon13 c.6622-28delC 0.627796 0.8313 0.5998 0.7921 Uncertain 7_99720640_C->G 7 99720640 99720640 C G snp 1012.77 1/1 72 35 0 35 1.0 intronic rs1569055 CNPY4 AU NM_152755 exon4 c.3162+111C>G 0.836661 0.8532 Uncertain 7_99747130_G->A 7 99747130 99747130 G A snp 6774.77 1/1 99 248 0 248 1.0 exonic rs12878 LAMTOR4 AU synonymous SNV NM_001008395 exon2 c.G12A p.A4A 0.597045 0.6815 0.603183 0.5952 0.6771 Uncertain 7_99747378_G->T 7 99747378 99747378 G T snp 492.77 1/1 39 15 0 15 1.0 intronic rs7785392 LAMTOR4 AU NM_001008395 exon2 c.607+176G>T 0.531949 0.6458 Uncertain 7_99751017_A->G 7 99751017 99751017 A G snp 1331.77 1/1 96 48 0 48 1.0 splicing rs3736591 LAMTOR4 AU NM_001008395 exon3 c.4427-5A>G 0.588259 0.6806 0.594110 0.5872 0.6756 Pathogenic 7_99751281_G->T 7 99751281 99751281 G T snp 3326.77 1/1 99 117 0 117 1.0 intronic rs3736590 LAMTOR4 AU NM_001008395 exon3 c.4545+141G>T 0.546326 0.6448 0.5977 0.6702 0.0 P -0.978 T Uncertain 7_99753121_A->G 7 99753121 99753121 A G snp 2729.77 1/1 99 102 0 102 1.0 intronic rs2272337 C7orf43 AU NM_001303470 exon2 c.445+43A>G 0.547324 0.6488 0.551634 0.6089 0.6889 Uncertain 7_99753238_G->A 7 99753238 99753238 G A snp 492.77 0/1 76 18 3 15 0.83 intronic rs376910825 C7orf43 AU NM_001303470 exon3 c.660-55G>A 0.000199681 0.001 Uncertain 7_99757612_G->A 7 99757612 99757612 G A snp 2612.77 1/1 99 88 0 88 1.0 exonic rs3823646 GAL3ST4 AU nonsynonymous SNV NM_024637 exon4 c.C1400T p.A467V 0.506589 0.6438 0.506382 0.5375 0.6351 0.28 T 0.976 P -0.976 T 0.056 T 0.046 T Pathogenic 7_99758136_T->G 7 99758136 99758136 T G snp 6420.77 1/1 99 224 0 224 1.0 exonic rs3800951 GAL3ST4 AU synonymous SNV NM_024637 exon4 c.A876C p.A292A 0.543331 0.6438 0.548824 0.5514 0.6364 0 D 1.000 P -0.936 T Likely benign 7_99771305_-->TCTT 7 99771305 99771305 - TCTT indel 904.73 1/1 45 15 0 15 1.0 intronic rs398005583 GPC2 AU NM_152742 exon6 c.3605-152insTCTT 0.240415 0.3294 Uncertain 7_99772298_A->C 7 99772298 99772298 A C snp 3321.77 1/1 99 121 0 121 1.0 intronic rs10252037 GPC2 AU NM_152742 exon7 c.4455-9A>C 0.997005 1 0.997309 0.9992 1 Uncertain 7_99774122_T->C 7 99774122 99774122 T C snp 53.74 1/1 6 3 0 3 1.0 intronic rs12705073 GPC2 AU NM_152742 exon9 c.6136+134T>C 0.519968 0.6815 Uncertain 7_99778019_G->C 7 99778019 99778019 G C snp 139.03 1/1 12 4 0 4 1.0 intronic rs12666107 STAG3 AR 0.384585 0.622 Uncertain 7_99780282_C->G 7 99780282 99780282 C G snp 1733.77 1/1 99 56 0 56 1.0 intronic rs4729579 STAG3 AR NM_012447 exon4 c.2166-63C>G 0.394169 0.622 Uncertain 7_99783714_G->T 7 99783714 99783714 G T snp 298.78 1/1 24 8 0 8 1.0 intronic rs6960458 STAG3 AR NM_012447 exon5 c.5643-108G>T 0.394169 0.622 Uncertain 7_99786964_G->T 7 99786964 99786964 G T snp 292.78 1/1 24 8 0 8 1.0 intronic rs11764176 STAG3 AR NM_012447 exon8 c.8888-103G>T 0.394169 0.622 Uncertain 7_99796072_T->C 7 99796072 99796072 T C snp 998.77 1/1 72 36 0 36 1.0 intronic rs3823642 STAG3 AR NM_012447 exon13 c.17918-25T>C 0.394369 0.621 0.289449 0.3177 0.6224 Uncertain 7_99796146_A->C 7 99796146 99796146 A C snp 1264.77 1/1 90 48 0 48 1.0 exonic rs3735241 STAG3 AR synonymous SNV NM_001282718 exon11 c.A1119C p.P373P 0.5 0.6815 0.468784 0.4975 0.6890 Uncertain 7_99797031_C->G 7 99797031 99797031 C G snp 1377.77 1/1 99 43 0 43 1.0 intronic rs2272345 STAG3 AR NM_012447 exon15 c.18811+41C>G 0.376997 0.621 0.269799 0.3124 0.6204 Uncertain 7_99799845_T->A 7 99799845 99799845 T A snp 5334.77 1/1 99 199 0 199 1.0 exonic rs1043915 STAG3 AR synonymous SNV NM_001282718 exon22 c.T2271A p.I757I 0.393171 0.621 0.289482 0.3176 0.6213 Uncertain 7_99817901_C->T 7 99817901 99817901 C T snp 623.77 0/1 99 39 14 25 0.64 exonic rs771971368 PVRIG AU nonsynonymous SNV NM_024070 exon3 c.C283T p.R95C 3.968e-05 0 0.12 T 1 N -1.041 T 0.03 T 0.003 T Pathogenic 7_99950265_A->G 7 99950265 99950265 A G snp 46.77 0/1 33 3 1 2 0.67 ncRNA_exonic PVRIG2P AU Uncertain 7_100004446_C->T 7 100004446 100004446 C T snp 1238.77 0/1 99 89 43 46 0.52 intronic rs1476679 ZCWPW1 AU NM_017984 exon7 c.5785+25C>T 0.788538 0.6508 0.779714 0.7426 0.6715 Uncertain 7_100175473_T->C 7 100175473 100175473 T C snp 7297.77 1/1 99 250 0 250 1.0 exonic rs909152 LRCH4 AU synonymous SNV NM_001289934 exon8 c.A1011G p.G337G 0.754593 0.7242 0.769645 0.7002 0.7262 Uncertain 7_100211486_G->C 7 100211486 100211486 G C snp 203.8 0/1 21 7 1 6 0.86 intronic rs7812235 MOSPD3 AU NM_023948 exon3 c.915+157G>C 0.130791 0.1111 Uncertain 7_100212754_C->T 7 100212754 100212754 C T snp 1224.77 0/1 99 104 51 53 0.51 intronic rs11764045 MOSPD3 AU NM_023948 exon5 c.2360-20C>T 0.128994 0.1131 0.160541 0.1790 0.1080 Uncertain 7_100225031_G->A 7 100225031 100225031 G A snp 1083.77 0/1 99 106 57 49 0.46 exonic rs2075674 TFR2 AU synonymous SNV NM_003227 exon16 c.C1851T p.A617A 0.129992 0.12 0.163065 0.2475 0.2127 CLINSIG=non-pathogenic;CLNDBN=Hemochromatosis_type_3;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000020542.1;CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet;CLNDSDBID=NBK1349:C1858664:604250:ORPHA225123 Uncertain 7_100227188_A->C 7 100227188 100227188 A C snp 379.77 1/1 30 12 0 12 1.0 intronic rs7457868 TFR2 AU NM_001206855 exon9 c.8516+193A>C 0.876797 0.8869 Uncertain 7_100240771_A->T 7 100240771 100240771 A T snp 1601.77 1/1 99 54 0 54 1.0 UTR3 rs1052897 ACTL6B AU 0.886182 0.8889 Uncertain 7_100252918_A->G 7 100252918 100252918 A G snp 171.77 0/1 99 13 7 6 0.46 intronic rs2231172 ACTL6B AU NM_016188 exon12 c.12175-125A>G 0.137181 0.12 Uncertain 7_100253274_C->T 7 100253274 100253274 C T snp 1044.77 0/1 99 74 37 37 0.5 intronic rs2231170 ACTL6B AU NM_016188 exon12 c.12341+65C>T 0.0245607 0.1022 Uncertain 7_100280896_A->C 7 100280896 100280896 A C snp 2940.77 1/1 99 111 0 111 1.0 intronic rs221793 GIGYF1 AU NM_022574 exon7 c.1585-30A>C 0.970847 1 0.931493 0.9311 1 Uncertain 7_100281768_T->C 7 100281768 100281768 T C snp 5270.77 1/1 99 192 0 192 1.0 exonic rs221794 GIGYF1 AU synonymous SNV NM_022574 exon15 c.A1743G p.P581P 0.861621 0.9206 0.855901 0.8459 0.9364 Uncertain 7_100284511_G->- 7 100284511 100284511 G - indel 2423.73 1/1 99 75 0 75 1.0 intronic rs35436931 GIGYF1 AU NM_022574 exon18 c.5101+69delG 0.921925 0.9216 Uncertain 7_100284913_C->G 7 100284913 100284913 C G snp 4117.77 1/1 99 142 0 142 1.0 intronic rs221796 GIGYF1 AU NM_022574 exon20 c.5579-7C>G 0.909944 0.9167 0.921692 0.8950 0.9358 Uncertain 7_100285476_C->T 7 100285476 100285476 C T snp 1569.77 1/1 99 52 0 52 1.0 exonic rs77794375 GIGYF1 AU nonsynonymous SNV NM_022574 exon3 c.G196A p.A66T 0.166933 0.497 0.012765 0.1005 0.5333 0.54 T 1.000 P -0.928 T 0.772 T 0.122 P Pathogenic 7_100285974_A->C 7 100285974 100285974 A C snp 2379.77 1/1 99 69 0 69 1.0 UTR5 rs221797 GIGYF1 AU 0.920327 0.9236 Uncertain 7_100348384_T->C 7 100348384 100348384 T C snp 4691.77 1/1 99 172 0 172 1.0 exonic rs2293768 ZAN AU unknown 0.191893 0.5139 0.036093 0.1235 0.5322 Uncertain 7_100350871_G->A 7 100350871 100350871 G A snp 1437.77 0/1 99 119 55 64 0.54 intronic rs375661590 ZAN AU NM_003386 exon14 c.19061+19G>A 0.000563 0.0005 0.0001 Uncertain 7_100371358_G->A 7 100371358 100371358 G A snp 6598.77 1/1 99 250 0 250 1.0 exonic rs2293766 ZAN AU unknown 0.178315 0.5079 0.012591 0.1287 0.5646 1 T 1.0 P Uncertain 7_100371474_G->A 7 100371474 100371474 G A snp 5562.77 1/1 99 202 1 201 1.0 exonic rs78193191 ZAN AU unknown 0.445487 0.7867 0.4724 0.8078 0.22 T 1.000 N -0.648 T 0.793 T 0.169 P Uncertain 7_100371476_-->G 7 100371476 100371476 - G indel 8840.73 1/1 99 197 0 197 1.0 exonic rs148800656 ZAN AU unknown 0.445288 0.7867 0.325288 0.4732 0.8081 ID=COSM128718;OCCURENCE=1(upper_aerodigestive_tract) Uncertain 7_100371583_A->G 7 100371583 100371583 A G snp 590.77 1/1 45 15 0 15 1.0 intronic rs17147741 ZAN AU NM_003386 exon31 c.39696+96A>G 0.181909 0.5089 Uncertain 7_100373077_C->G 7 100373077 100373077 C G snp 7342.77 1/1 99 249 0 249 1.0 exonic rs542137 ZAN AU unknown 0.445288 0.7867 0.317494 0.4252 0.8095 0.27 T 0.010 P -1.137 T 0.95 T 0.629 D Uncertain 7_100373271_G->T 7 100373271 100373271 G T snp 2892.77 1/1 99 92 0 92 1.0 intronic rs540330 ZAN AU NM_003386 exon33 c.41499-19G>T 0.445088 0.7867 0.317149 0.4247 0.8083 Uncertain 7_100373367_G->C 7 100373367 100373367 G C snp 4712.77 1/1 99 178 0 178 1.0 exonic rs539445 ZAN AU unknown 0.445088 0.7867 0.315839 0.4251 0.8094 0.81 T 0.0 P -0.970 T 0.0 T 0.0 T Uncertain 7_100376978_T->C 7 100376978 100376978 T C snp 2292.77 1/1 99 76 0 76 1.0 intronic rs314303 ZAN AU NM_003386 exon35 c.45276-89T>C 0.89397 0.9663 Uncertain 7_100377364_G->A 7 100377364 100377364 G A snp 1550.77 1/1 99 47 0 47 1.0 exonic rs77017835 ZAN AU unknown 0.182508 0.5109 0.012678 0.0949 0.5690 0.02 T 1.000 P -0.974 T 0.999 D 0.958 D Uncertain 7_100382316_G->A 7 100382316 100382316 G A snp 1293.77 0/1 99 125 70 55 0.44 exonic rs149194496 ZAN AU unknown 0.00439297 0.0208 0.000079 0.0019 0.0237 0.49 T 1 N -0.678 T 0.072 T 0.038 T Uncertain 7_100386900_T->C 7 100386900 100386900 T C snp 3991.77 1/1 99 147 0 147 1.0 exonic rs191137 ZAN AU unknown 0.937101 0.9663 0.933322 0.9338 0.9759 1 T 0.0 P -0.940 T 0.0 T 0.0 T Uncertain 7_100389928_G->T 7 100389928 100389928 G T snp 541.77 0/1 99 47 23 24 0.51 intronic rs76427635 ZAN AU NM_003386 exon42 c.58235-98G>T 0.138578 0.1716 Uncertain 7_100389929_A->T 7 100389929 100389929 A T snp 598.77 0/1 99 47 23 24 0.51 intronic rs75379065 ZAN AU NM_003386 exon42 c.58235-97A>T 0.138578 0.1726 Uncertain 7_100391644_T->C 7 100391644 100391644 T C snp 3250.77 1/1 99 110 0 110 1.0 splicing rs314340 ZAN AU NM_003386 exon43 c.59849+4T>C 0.98722 1 0.991311 0.9971 1 Pathogenic 7_100391874_T->C 7 100391874 100391874 T C snp 844.77 0/1 99 54 25 29 0.54 exonic rs80067406 ZAN AU unknown 0.00798722 0.0377 0.000080 0.0032 0.0389 0.65 T 1.000 D -0.985 T 0.998 D 0.971 D Uncertain 7_100401270_T->G 7 100401270 100401270 T G snp 2578.77 1/1 99 90 0 90 1.0 intronic rs314348 EPHB4 AU NM_004444 exon1 c.130+58T>G 0.971246 1 Uncertain 7_100410597_G->A 7 100410597 100410597 G A snp 2807.77 0/1 99 250 129 121 0.48 exonic rs2230585 EPHB4 AU synonymous SNV NM_004444 exon12 c.C1890T p.C630C 0.275559 0.3115 0.326618 0.3403 0.3114 Uncertain 7_100410657_A->G 7 100410657 100410657 A G snp 2694.77 0/1 99 243 124 119 0.49 intronic rs314358 EPHB4 AU NM_004444 exon6 c.9534+41A>G 0.575479 0.6329 0.566046 0.6083 0.6513 Uncertain 7_100411278_T->C 7 100411278 100411278 T C snp 1006.77 0/1 99 106 58 48 0.45 exonic rs314359 EPHB4 AU synonymous SNV NM_004444 exon10 c.A1752G p.G584G 0.575679 0.6329 0.566046 0.6080 0.6515 Uncertain 7_100416139_T->C 7 100416139 100416139 T C snp 1923.77 0/1 99 145 66 79 0.54 splicing rs3857809 EPHB4 AU NM_004444 exon11 c.15059-2T>C 0.242412 0.5804 0.058511 0.1178 0.5878 Pathogenic 7_100416250_A->G 7 100416250 100416250 A G snp 1854.77 0/1 99 184 103 81 0.44 exonic rs144173 EPHB4 AU synonymous SNV NM_004444 exon7 c.T1314C p.S438S 0.563698 0.6399 0.555282 0.6059 0.6518 Uncertain 7_100417364_G->A 7 100417364 100417364 G A snp 1727.77 0/1 99 127 61 66 0.52 exonic rs55720981 EPHB4 AU nonsynonymous SNV NM_004444 exon6 c.C1112T p.A371V 0.00559105 0.0278 0.000154 0.0025 0.0354 0.36 T 1 N -0.274 T 0.001 T 0.002 T Pathogenic 7_100424577_-->C 7 100424577 100424577 - C indel 962.73 0/1 99 126 50 76 0.6 intronic rs141919245 EPHB4 AU NM_004444 exon17 c.23518-23insC 0.1844 0.4234 Uncertain 7_100424587_G->C 7 100424587 100424587 G C snp 1404.77 0/1 99 123 59 64 0.52 intronic rs2304374 EPHB4 AU NM_004444 exon17 c.23518-13G>C 0.4420 0.5679 Uncertain 7_100424776_C->G 7 100424776 100424776 C G snp 319.77 0/1 99 25 14 11 0.44 UTR5 rs2571606 EPHB4 AU 0.293131 0.5754 Uncertain 7_100452524_A->G 7 100452524 100452524 A G snp 68.77 0/1 97 9 6 3 0.33 intronic rs314369 SLC12A9 AU NM_001267812 exon3 c.557+148A>G 0.574081 0.8085 Uncertain 7_100456611_G->C 7 100456611 100456611 G C snp 1071.77 0/1 99 104 59 45 0.43 intronic rs314374 SLC12A9 AU NM_001267814 exon4 c.4745+47G>C 0.463059 0.8065 0.375673 0.5011 0.8182 Uncertain 7_100457344_G->A 7 100457344 100457344 G A snp 111.77 0/1 99 9 4 5 0.56 intronic rs314375 SLC12A9 AU NM_001267814 exon6 c.5687-162G>A 0.574481 0.8095 Uncertain 7_100457356_A->G 7 100457356 100457356 A G snp 215.77 0/1 99 15 8 7 0.47 intronic rs314376 SLC12A9 AU NM_001267814 exon6 c.5687-150A>G 0.463059 0.8065 Uncertain 7_100458795_T->C 7 100458795 100458795 T C snp 2686.77 0/1 99 248 136 112 0.45 exonic rs314378 SLC12A9 AU synonymous SNV NM_001267814 exon8 c.T987C p.A329A 0.578474 0.8095 0.497693 0.5689 0.8180 Uncertain 7_100460331_G->A 7 100460331 100460331 G A snp 1513.77 0/1 99 124 59 65 0.52 exonic rs72615164 SLC12A9 AU synonymous SNV NM_001267814 exon11 c.G1473A p.P491P 0.10004 0.3274 0.004690 0.0483 0.3268 Uncertain 7_100467975_-->CT 7 100467975 100467975 - CT indel 2789.73 1/1 99 51 0 51 1.0 intronic rs10627414 TRIP6 AU NM_003302 exon5 c.2872-16insCT 0.963059 0.9812 0.973293 0.9881 0.9824 Uncertain 7_100468284_A->G 7 100468284 100468284 A G snp 1876.77 0/1 99 170 87 83 0.49 exonic rs1054391 TRIP6 AU synonymous SNV NM_003302 exon6 c.A918G p.V306V 0.560104 0.8095 0.480240 0.5621 0.8183 1.0 P -1.020 T Likely benign 7_100468398_T->C 7 100468398 100468398 T C snp 646.77 0/1 99 57 32 25 0.44 intronic rs7783543 TRIP6 AU NM_003302 exon6 c.3246+33T>C 0.579673 0.8105 0.496386 0.5739 0.8167 Uncertain 7_100479385_C->A 7 100479385 100479385 C A snp 2370.77 0/1 99 177 81 96 0.54 exonic rs144415744 SRRT AU nonsynonymous SNV NM_001128852 exon4 c.C357A p.D119E 0.00119808 0.006 0.0008 0.0091 1 T 0.989 D -1.004 T 0.163 T 0.058 T Pathogenic 7_100481659_T->- 7 100481659 100481659 T - indel 3940.73 0/1 99 186 70 116 0.62 intronic rs11310439 SRRT AU NM_015908 exon6 c.8479-31delT 0.46226 0.8065 0.374361 0.5036 0.8164 Uncertain 7_100482026_T->C 7 100482026 100482026 T C snp 950.77 0/1 99 95 55 40 0.42 exonic rs15624 SRRT AU synonymous SNV NM_001128852 exon7 c.T795C p.L265L 0.576877 0.8095 0.496079 0.5690 0.8166 Uncertain 7_100482526_C->G 7 100482526 100482526 C G snp 1835.77 0/1 99 156 76 80 0.51 intronic rs6942607 SRRT AU NM_015908 exon9 c.9332-17C>G 0.463059 0.8065 0.375980 0.5003 0.8174 Uncertain 7_100484917_C->T 7 100484917 100484917 C T snp 2801.77 0/1 99 250 135 115 0.46 intronic rs6954151 SRRT AU NM_015908 exon16 c.11729-23C>T 0.462859 0.8056 0.374443 0.5007 0.8161 Uncertain 7_100486035_C->A 7 100486035 100486035 C A snp 1050.77 0/1 99 108 64 44 0.41 intronic rs2720392 SRRT AU NM_015908 exon19 c.12793+31C>A 0.276558 0.125 0.392819 0.3881 0.1240 Uncertain 7_100486088_C->T 7 100486088 100486088 C T snp 1424.77 0/1 99 119 59 60 0.5 intronic rs3087504 SRRT AU NM_015908 exon20 c.12883-6C>T 0.46266 0.8056 0.376365 0.5007 0.8176 Uncertain 7_100486656_T->G 7 100486656 100486656 T G snp 1480.77 0/1 99 169 102 67 0.4 exonic rs13241786 UFSP1 AU synonymous SNV NM_001015072 exon1 c.A237C p.V79V 0.651757 0.8175 0.567277 0.6065 0.8315 Uncertain 7_100488658_G->C 7 100488658 100488658 G C snp 401.77 0/1 99 33 19 14 0.42 intronic rs1799806 ACHE AU NM_001302621 exon1 c.131-51G>C 0.269369 0.125 0.341191 0.4730 0.1883 0.36 T 0.008 P -0.936 T 0.001 T 0.003 T Uncertain 7_100494222_-->C 7 100494222 100494222 - C indel 5160.73 1/1 99 124 0 124 1.0 upstream rs66793456 ACHE AU 1 1 1 1 Uncertain 7_100547211_T->C 7 100547211 100547211 T C snp 73.77 0/1 99 12 8 4 0.33 UTR5 rs79277565 MUC3A AU 0 0 Uncertain 7_100547215_T->C 7 100547215 100547215 T C snp 70.77 0/1 99 12 8 4 0.33 UTR5 rs77163569 MUC3A AU 0 0 Uncertain 7_100547220_A->G 7 100547220 100547220 A G snp 70.77 0/1 99 12 8 4 0.33 UTR5 rs77805555 MUC3A AU 0 0 Uncertain 7_100547225_T->C 7 100547225 100547225 T C snp 70.77 0/1 99 12 8 4 0.33 UTR5 rs77066311 MUC3A AU 0 0 Uncertain 7_100547227_T->C 7 100547227 100547227 T C snp 70.77 0/1 99 12 8 4 0.33 UTR5 rs76736259 MUC3A AU 0 0 Uncertain 7_100547238_C->T 7 100547238 100547238 C T snp 133.77 0/1 99 15 9 6 0.4 UTR5 rs79636720 MUC3A AU 0.0002 0 Uncertain 7_100547278_G->A 7 100547278 100547278 G A snp 170.77 0/1 99 21 14 7 0.33 exonic rs73163737 MUC3A AU nonsynonymous SNV NM_005960 exon1 c.G22A p.G8S 0.0012 0.0013 0.93 T -1.022 T Pathogenic 7_100547281_C->A 7 100547281 100547281 C A snp 188.77 0/1 99 21 14 7 0.33 exonic rs73163738 MUC3A AU nonsynonymous SNV NM_005960 exon1 c.C25A p.L9I 0.0010 0.0012 0.7 T -0.994 T Pathogenic 7_100547299_G->T 7 100547299 100547299 G T snp 130.77 0/1 99 20 14 6 0.3 exonic rs78614597 MUC3A AU nonsynonymous SNV NM_005960 exon1 c.G43T p.A15S 0.0001 0 0.8 T -0.992 T Pathogenic 7_100547307_G->A 7 100547307 100547307 G A snp 138.77 0/1 99 18 12 6 0.33 exonic rs76308179 MUC3A AU synonymous SNV NM_005960 exon1 c.G51A p.P17P 6.868e-05 0 Uncertain 7_100547308_T->G 7 100547308 100547308 T G snp 136.77 0/1 99 18 12 6 0.33 exonic rs75384714 MUC3A AU nonsynonymous SNV NM_005960 exon1 c.T52G p.W18G 6.855e-05 0 0.88 T -0.974 T Pathogenic 7_100547323_G->A 7 100547323 100547323 G A snp 144.77 0/1 99 20 13 7 0.35 splicing rs75534608 MUC3A AU NM_005960 exon1 c.61+6G>A 0.0002 0 Pathogenic 7_100547335_A->G 7 100547335 100547335 A G snp 95.77 0/1 99 20 14 6 0.3 intronic rs75081026 MUC3A AU NM_005960 exon1 c.61+18A>G 9.582e-05 0 Uncertain 7_100547342_T->C 7 100547342 100547342 T C snp 107.77 0/1 99 20 14 6 0.3 intronic rs76223352 MUC3A AU NM_005960 exon1 c.61+25T>C 0.0002 0 Uncertain 7_100547349_A->G 7 100547349 100547349 A G snp 148.77 0/1 99 23 13 10 0.43 intronic rs75600589 MUC3A AU NM_005960 exon1 c.61+32A>G 0 0 Uncertain 7_100547374_A->G 7 100547374 100547374 A G snp 119.77 0/1 99 24 16 8 0.33 intronic rs79199072 MUC3A AU NM_005960 exon1 c.61+57A>G Uncertain 7_100547375_A->G 7 100547375 100547375 A G snp 105.77 0/1 99 25 18 7 0.28 intronic rs77005489 MUC3A AU NM_005960 exon1 c.61+58A>G Uncertain 7_100547385_A->G 7 100547385 100547385 A G snp 120.77 0/1 99 23 16 7 0.3 intronic rs80263712 MUC3A AU NM_005960 exon1 c.61+68A>G Uncertain 7_100547388_A->G 7 100547388 100547388 A G snp 120.77 0/1 99 23 15 8 0.35 intronic rs78920296 MUC3A AU NM_005960 exon1 c.61+71A>G Uncertain 7_100547395_G->C 7 100547395 100547395 G C snp 109.77 0/1 99 23 16 7 0.3 intronic rs74612160 MUC3A AU NM_005960 exon1 c.61+78G>C Uncertain 7_100547397_A->G 7 100547397 100547397 A G snp 125.77 0/1 99 23 16 7 0.3 intronic rs78708089 MUC3A AU NM_005960 exon1 c.61+80A>G Uncertain 7_100547526_CC->- 7 100547526 100547527 CC - indel 215.87 1/1 15 5 0 5 1.0 intronic rs142704104 MUC3A AU NM_005960 exon1 c.61+209_61+210delCC 0.958267 0.999 Uncertain 7_100549414_C->A 7 100549414 100549414 C A snp 79.77 0/1 99 34 29 5 0.15 intronic rs75254397 MUC3A AU NM_005960 exon2 c.2224-66C>A Uncertain 7_100549415_A->T 7 100549415 100549415 A T snp 78.77 0/1 99 36 31 5 0.14 intronic rs75547895 MUC3A AU NM_005960 exon2 c.2224-65A>T Uncertain 7_100549421_G->C 7 100549421 100549421 G C snp 36.77 0/1 65 53 48 5 0.09 intronic rs75196671 MUC3A AU NM_005960 exon2 c.2224-59G>C Uncertain 7_100549426_A->G 7 100549426 100549426 A G snp 54.77 0/1 83 61 55 6 0.1 intronic rs78724937 MUC3A AU NM_005960 exon2 c.2224-54A>G Uncertain 7_100549505_T->C 7 100549505 100549505 T C snp 1487.77 0/1 99 250 188 62 0.25 exonic rs74588241 MUC3A AU nonsynonymous SNV NM_005960 exon2 c.T86C p.I29T 0.000399361 0.002 0.4170 0.3933 1 T -0.984 T Pathogenic 7_100549512_A->T 7 100549512 100549512 A T snp 1351.77 0/1 99 250 193 57 0.23 exonic rs77667788 MUC3A AU nonsynonymous SNV NM_005960 exon2 c.A93T p.Q31H 0.3871 0.3501 0.55 T -0.994 T Pathogenic 7_100549516_C->A 7 100549516 100549516 C A snp 1302.77 0/1 99 250 196 54 0.22 exonic rs76951301 MUC3A AU nonsynonymous SNV NM_005960 exon2 c.C97A p.P33T 0.3830 0.3475 1 T -0.988 T Pathogenic 7_100549527_A->G 7 100549527 100549527 A G snp 1265.77 0/1 99 250 198 52 0.21 exonic rs77426926 MUC3A AU synonymous SNV NM_005960 exon2 c.A108G p.R36R 0.3562 0.3144 Uncertain 7_100549530_A->G 7 100549530 100549530 A G snp 1206.77 0/1 99 250 199 51 0.2 exonic rs77626205 MUC3A AU synonymous SNV NM_005960 exon2 c.A111G p.A37A 0.3528 0.3107 Uncertain 7_100549537_G->A 7 100549537 100549537 G A snp 1119.77 0/1 99 250 201 49 0.2 exonic rs75781078 MUC3A AU nonsynonymous SNV NM_005960 exon2 c.G118A p.A40T 0.3827 0.3431 1 T -0.969 T Pathogenic 7_100549540_A->C 7 100549540 100549540 A C snp 1175.77 0/1 99 249 201 48 0.19 exonic rs745478294 MUC3A AU nonsynonymous SNV NM_005960 exon2 c.A121C p.S41R 0.3860 0.3457 0.71 T -0.996 T Pathogenic 7_100549543_G->A 7 100549543 100549543 G A snp 1043.77 0/1 99 250 203 47 0.19 exonic rs79492129 MUC3A AU nonsynonymous SNV NM_005960 exon2 c.G124A p.A42T 0.0103834 0.3938 0.3555 1 T -0.995 T Pathogenic 7_100549547_T->C 7 100549547 100549547 T C snp 1088.77 0/1 99 250 204 46 0.18 exonic rs77743944 MUC3A AU nonsynonymous SNV NM_005960 exon2 c.T128C p.V43A 0.4063 0.3719 1 T -0.968 T Pathogenic 7_100549548_G->C 7 100549548 100549548 G C snp 1110.77 0/1 99 250 204 46 0.18 exonic rs76519276 MUC3A AU synonymous SNV NM_005960 exon2 c.G129C p.V43V 0.4070 0.3725 Uncertain 7_100549573_G->T 7 100549573 100549573 G T snp 2916.77 0/1 99 250 143 107 0.43 exonic rs73163748 MUC3A AU nonsynonymous SNV NM_005960 exon2 c.G154T p.D52Y 0.4867 0.4722 0.18 T -1.029 T Pathogenic 7_100549583_G->A 7 100549583 100549583 G A snp 2881.77 0/1 99 250 147 103 0.41 exonic rs73163749 MUC3A AU nonsynonymous SNV NM_005960 exon2 c.G164A p.G55E 0.4888 0.4802 1 T -0.960 T Pathogenic 7_100549592_T->A 7 100549592 100549592 T A snp 2659.77 0/1 99 250 152 98 0.39 exonic rs73163750 MUC3A AU nonsynonymous SNV NM_005960 exon2 c.T173A p.L58H 0.4909 0.4834 0.09 T -0.997 T Pathogenic 7_100549593_T->A 7 100549593 100549593 T A snp 2761.77 0/1 99 250 151 99 0.4 exonic rs74375072 MUC3A AU synonymous SNV NM_005960 exon2 c.T174A p.L58L 0.4917 0.4843 Uncertain 7_100549650_A->G 7 100549650 100549650 A G snp 2508.77 0/1 99 250 160 90 0.36 exonic rs73398716 MUC3A AU synonymous SNV NM_005960 exon2 c.A231G p.T77T 0.00179712 0.0089 0.4999 0.5 Uncertain 7_100549697_A->G 7 100549697 100549697 A G snp 3497.77 0/1 99 250 135 115 0.46 exonic rs77036391 MUC3A AU nonsynonymous SNV NM_005960 exon2 c.A278G p.N93S 0.00199681 0.0069 0.4999 0.5 0.9 T -1.010 T Pathogenic 7_100549703_C->T 7 100549703 100549703 C T snp 3563.77 0/1 99 250 134 116 0.46 exonic rs78164286 MUC3A AU nonsynonymous SNV NM_005960 exon2 c.C284T p.P95L 0.00199681 0.0069 0.4999 0.5 0.31 T -1.003 T Pathogenic 7_100549787_C->T 7 100549787 100549787 C T snp 3373.77 0/1 99 250 128 122 0.49 exonic rs73714227 MUC3A AU nonsynonymous SNV NM_005960 exon2 c.C368T p.S123L 0.000199681 0.4999 0.5 0.29 T -0.985 T Pathogenic 7_100549788_A->G 7 100549788 100549788 A G snp 3374.77 0/1 99 250 129 121 0.48 exonic rs78113948 MUC3A AU synonymous SNV NM_005960 exon2 c.A369G p.S123S 0.000399361 0.4999 0.5 Uncertain 7_100549840_C->T 7 100549840 100549840 C T snp 1062.77 0/1 99 250 192 58 0.23 exonic rs75741102 MUC3A AU nonsynonymous SNV NM_005960 exon2 c.C421T p.P141S 0.000199681 0.2017 0.2843 0.34 T -1.007 T Pathogenic 7_100549865_C->T 7 100549865 100549865 C T snp 1243.77 0/1 99 250 194 56 0.22 exonic rs35420758 MUC3A AU nonsynonymous SNV NM_005960 exon2 c.C446T p.T149M 0.113818 0.0278 0.1456 0.0251 0.07 T -1.030 T Pathogenic 7_100549873_G->A 7 100549873 100549873 G A snp 3462.77 0/1 99 249 127 122 0.49 exonic rs74193966 MUC3A AU nonsynonymous SNV NM_005960 exon2 c.G454A p.A152T 0.000199681 0.4975 0.4940 1 T -0.980 T Pathogenic 7_100549884_C->T 7 100549884 100549884 C T snp 3408.77 0/1 99 250 126 124 0.5 exonic rs73163752 MUC3A AU synonymous SNV NM_005960 exon2 c.C465T p.S155S 0.4941 0.4856 Uncertain 7_100549894_T->C 7 100549894 100549894 T C snp 3395.77 0/1 99 249 130 119 0.48 exonic rs78007565 MUC3A AU nonsynonymous SNV NM_005960 exon2 c.T475C p.S159P 0.4939 0.4858 0.46 T -1.012 T Pathogenic 7_100549896_G->C 7 100549896 100549896 G C snp 3382.77 0/1 99 248 129 119 0.48 exonic rs79035545 MUC3A AU synonymous SNV NM_005960 exon2 c.G477C p.S159S 0.4939 0.4857 Uncertain 7_100549902_C->T 7 100549902 100549902 C T snp 3359.77 0/1 99 250 133 117 0.47 exonic rs75991009 MUC3A AU synonymous SNV NM_005960 exon2 c.C483T p.P161P 0.4938 0.4855 Uncertain 7_100549914_G->A 7 100549914 100549914 G A snp 3292.77 0/1 99 249 134 115 0.46 exonic rs73714228 MUC3A AU synonymous SNV NM_005960 exon2 c.G495A p.K165K 0.4933 0.4841 Uncertain 7_100549935_T->G 7 100549935 100549935 T G snp 3057.77 0/1 99 250 137 113 0.45 exonic rs73714229 MUC3A AU nonsynonymous SNV NM_005960 exon2 c.T516G p.S172R 0.4934 0.4845 0.39 T -1.037 T Pathogenic 7_100549942_T->C 7 100549942 100549942 T C snp 3474.77 0/1 99 250 134 116 0.46 exonic rs73714230 MUC3A AU nonsynonymous SNV NM_005960 exon2 c.T523C p.S175P 0.4935 0.4857 0.33 T -1.038 T Pathogenic 7_100549967_C->T 7 100549967 100549967 C T snp 1002.77 0/1 99 250 200 50 0.2 exonic rs73714231 MUC3A AU nonsynonymous SNV NM_005960 exon2 c.C548T p.T183M 0.126997 0.0278 0.1254 0.0217 0.01 T -1.002 T Pathogenic 7_100549979_C->T 7 100549979 100549979 C T snp 2917.77 0/1 99 250 146 104 0.42 exonic rs73398717 MUC3A AU nonsynonymous SNV NM_005960 exon2 c.C560T p.T187I 0.4970 0.4951 0.15 T -0.962 T Pathogenic 7_100550032_-->CCT 7 100550032 100550032 - CCT indel 4931.73 0/1 99 250 141 109 0.44 exonic rs111723000 MUC3A AU nonframeshift insertion NM_005960 exon2 c.613_614insCCT p.P205delinsPS 0.4977 0.4949 Uncertain 7_100550079_A->C 7 100550079 100550079 A C snp 2973.77 0/1 99 248 141 107 0.43 exonic rs28379747 MUC3A AU synonymous SNV NM_005960 exon2 c.A660C p.S220S 0.4539 0.4615 Uncertain 7_100550133_A->G 7 100550133 100550133 A G snp 2931.77 0/1 99 248 137 111 0.45 exonic rs74197937 MUC3A AU synonymous SNV NM_005960 exon2 c.A714G p.T238T 0.000399361 0.001 0.4998 0.4999 Uncertain 7_100550138_C->T 7 100550138 100550138 C T snp 2885.77 0/1 99 248 138 110 0.44 exonic rs73714233 MUC3A AU nonsynonymous SNV NM_005960 exon2 c.C719T p.T240M 0.000199681 0.4998 0.4999 0.14 T -1.035 T Pathogenic 7_100550175_A->C 7 100550175 100550175 A C snp 148.77 0/1 99 250 222 28 0.11 exonic MUC3A AU synonymous SNV NM_005960 exon2 c.A756C p.A252A Uncertain 7_100550184_C->A 7 100550184 100550184 C A snp 1714.77 0/1 99 248 119 129 0.52 exonic rs73714234 MUC3A AU synonymous SNV NM_005960 exon2 c.C765A p.S255S 0.4989 0.4999 Uncertain 7_100550188_T->C 7 100550188 100550188 T C snp 499.77 0/1 99 248 185 63 0.25 exonic MUC3A AU nonsynonymous SNV NM_005960 exon2 c.T769C p.S257P 0.31 T -1.035 T Pathogenic 7_100550191_C->T 7 100550191 100550191 C T snp 874.77 0/1 99 250 207 43 0.17 exonic rs35523587 MUC3A AU nonsynonymous SNV NM_005960 exon2 c.C772T p.P258S 0.330671 0.3373 0.258807 0.2844 0.2681 0.9 T -0.991 T Pathogenic 7_100550203_T->A 7 100550203 100550203 T A snp 1601.77 0/1 99 250 165 85 0.34 exonic rs75141335 MUC3A AU nonsynonymous SNV NM_005960 exon2 c.T784A p.S262T 0.442623 0.4985 0.4995 1 T -0.938 T Pathogenic 7_100550205_A->C 7 100550205 100550205 A C snp 1604.77 0/1 99 249 183 66 0.27 exonic rs77471356 MUC3A AU synonymous SNV NM_005960 exon2 c.A786C p.S262S 0.427276 0.4986 0.4996 Uncertain 7_100550212_T->C 7 100550212 100550212 T C snp 1000.77 0/1 99 250 196 54 0.22 exonic rs76954633 MUC3A AU nonsynonymous SNV NM_005960 exon2 c.T793C p.S265P 0 0 0.29 T -1.025 T Pathogenic 7_100550217_A->C 7 100550217 100550217 A C snp 60.77 0/1 89 250 226 24 0.1 exonic rs77045782 MUC3A AU synonymous SNV NM_005960 exon2 c.A798C p.T266T 0 0 Uncertain 7_100550241_G->T 7 100550241 100550241 G T snp 522.77 0/1 99 216 186 30 0.14 exonic rs75834637 MUC3A AU synonymous SNV NM_005960 exon2 c.G822T p.T274T Uncertain 7_100550245_G->A 7 100550245 100550245 G A snp 1968.77 0/1 99 218 143 75 0.34 exonic rs66732041 MUC3A AU nonsynonymous SNV NM_005960 exon2 c.G826A p.A276T 0.0213658 0.4601 0.4861 1 T -0.964 T Pathogenic 7_100550247_C->A 7 100550247 100550247 C A snp 238.77 0/1 99 218 190 28 0.13 exonic rs77753678 MUC3A AU synonymous SNV NM_005960 exon2 c.C828A p.A276A 0.1362 0.0623 Uncertain 7_100550252_A->G 7 100550252 100550252 A G snp 2240.77 0/1 99 224 133 91 0.41 exonic rs67587735 MUC3A AU nonsynonymous SNV NM_005960 exon2 c.A833G p.Q278R 0.000599042 0.4554 0.4822 0.44 T -1.021 T Pathogenic 7_100550271_A->G 7 100550271 100550271 A G snp 1943.77 0/1 99 249 175 74 0.3 exonic rs71540914 MUC3A AU synonymous SNV NM_005960 exon2 c.A852G p.T284T 0.4270 0.4748 Uncertain 7_100550274_G->A 7 100550274 100550274 G A snp 176.77 0/1 99 243 216 27 0.11 exonic rs773180479 MUC3A AU synonymous SNV NM_005960 exon2 c.G855A p.L285L 2.656e-05 0 Uncertain 7_100550282_C->T 7 100550282 100550282 C T snp 2123.77 0/1 99 240 152 88 0.37 exonic rs71540915 MUC3A AU nonsynonymous SNV NM_005960 exon2 c.C863T p.P288L 0.4234 0.4759 0.33 T -1.024 T Pathogenic 7_100550286_T->C 7 100550286 100550286 T C snp 2152.77 0/1 99 242 157 85 0.35 exonic rs370230558 MUC3A AU synonymous SNV NM_005960 exon2 c.T867C p.T289T 0.2146 0.2277 Uncertain 7_100550289_G->T 7 100550289 100550289 G T snp 2062.77 0/1 99 245 159 86 0.35 exonic rs71540916 MUC3A AU nonsynonymous SNV NM_005960 exon2 c.G870T p.R290S 0.4223 0.4755 1 T -1.018 T Pathogenic 7_100550291_C->G 7 100550291 100550291 C G snp 1976.77 0/1 99 245 159 86 0.35 exonic rs71540917 MUC3A AU nonsynonymous SNV NM_005960 exon2 c.C872G p.T291S 0.1852 0.1955 0.64 T -1.013 T Pathogenic 7_100550304_C->T 7 100550304 100550304 C T snp 349.77 0/1 99 247 215 32 0.13 exonic rs71540918 MUC3A AU synonymous SNV NM_005960 exon2 c.C885T p.S295S 0.2379 0.2849 Uncertain 7_100550307_A->T 7 100550307 100550307 A T snp 558.77 0/1 99 229 197 32 0.14 exonic rs768854732 MUC3A AU synonymous SNV NM_005960 exon2 c.A888T p.T296T 0.2390 0.2609 Uncertain 7_100550312_T->C 7 100550312 100550312 T C snp 489.77 0/1 99 235 206 29 0.12 exonic rs747914533 MUC3A AU nonsynonymous SNV NM_005960 exon2 c.T893C p.V298A 0.2386 0.2612 0.63 T -0.977 T Pathogenic 7_100550315_T->C 7 100550315 100550315 T C snp 2203.77 0/1 99 235 147 88 0.37 exonic rs76964559 MUC3A AU nonsynonymous SNV NM_005960 exon2 c.T896C p.L299P 0.4126 0.4696 0.93 T -0.979 T Pathogenic 7_100550316_G->A 7 100550316 100550316 G A snp 680.77 0/1 99 235 190 45 0.19 exonic rs78759433 MUC3A AU synonymous SNV NM_005960 exon2 c.G897A p.L299L 0.2359 0.2838 Uncertain 7_100550318_G->A 7 100550318 100550318 G A snp 460.77 0/1 99 241 212 29 0.12 exonic rs766350584 MUC3A AU nonsynonymous SNV NM_005960 exon2 c.G899A p.S300N 0.2368 0.2595 0.24 T -0.999 T Pathogenic 7_100550326_A->G 7 100550326 100550326 A G snp 1210.77 0/1 99 232 178 54 0.23 exonic rs111371899 MUC3A AU nonsynonymous SNV NM_005960 exon2 c.A907G p.T303A 0.2347 0.2566 0.5 T -0.969 T Pathogenic 7_100550327_C->T 7 100550327 100550327 C T snp 1499.77 0/1 99 232 168 64 0.28 exonic rs373932626 MUC3A AU nonsynonymous SNV NM_005960 exon2 c.C908T p.T303I 0.4102 0.4661 0.19 T -1.006 T Pathogenic 7_100550328_A->G 7 100550328 100550328 A G snp 1578.77 0/1 99 232 167 65 0.28 exonic rs74866207 MUC3A AU synonymous SNV NM_005960 exon2 c.A909G p.T303T 0.4105 0.4661 Uncertain 7_100550338_G->C 7 100550338 100550338 G C snp 1466.77 0/1 99 248 186 62 0.25 exonic rs75318416 MUC3A AU nonsynonymous SNV NM_005960 exon2 c.G919C p.G307R 0.4084 0.4653 0.42 T -0.990 T Pathogenic 7_100550339_G->A 7 100550339 100550339 G A snp 1501.77 0/1 99 248 186 62 0.25 exonic rs80152825 MUC3A AU nonsynonymous SNV NM_005960 exon2 c.G920A p.G307D 0.4073 0.4643 0.33 T -1.040 T Pathogenic 7_100550342_T->C 7 100550342 100550342 T C snp 2232.77 0/1 99 250 160 90 0.36 exonic rs74184351 MUC3A AU nonsynonymous SNV NM_005960 exon2 c.T923C p.I308T 0.4067 0.4635 1 T -0.980 T Pathogenic 7_100550348_A->C 7 100550348 100550348 A C snp 346.77 0/1 99 249 218 31 0.12 exonic rs775174499 MUC3A AU nonsynonymous SNV NM_005960 exon2 c.A929C p.N310T 0.2292 0.2505 1 T -0.988 T Pathogenic 7_100550358_C->T 7 100550358 100550358 C T snp 1898.77 0/1 99 250 136 114 0.46 exonic rs74184446 MUC3A AU synonymous SNV NM_005960 exon2 c.C939T p.P313P 0.1991 0.2490 Uncertain 7_100550360_T->C 7 100550360 100550360 T C snp 1069.77 0/1 99 250 195 55 0.22 exonic rs778597860 MUC3A AU nonsynonymous SNV NM_005960 exon2 c.T941C p.L314P 0.2261 0.2458 0.12 T -1.020 T Pathogenic 7_100550364_C->T 7 100550364 100550364 C T snp 1593.77 0/1 99 249 176 73 0.29 exonic rs74188306 MUC3A AU synonymous SNV NM_005960 exon2 c.C945T p.S315S 0.3985 0.4646 Uncertain 7_100550376_C->T 7 100550376 100550376 C T snp 386.77 0/1 99 250 195 55 0.22 exonic MUC3A AU synonymous SNV NM_005960 exon2 c.C957T p.T319T Uncertain 7_100550384_C->T 7 100550384 100550384 C T snp 242.77 0/1 99 250 222 28 0.11 exonic rs77636516 MUC3A AU nonsynonymous SNV NM_005960 exon2 c.C965T p.P322L 1.252e-05 0 0.17 T -1.021 T Pathogenic 7_100550385_C->A 7 100550385 100550385 C A snp 231.77 0/1 99 244 207 37 0.15 exonic rs768264348 MUC3A AU synonymous SNV NM_005960 exon2 c.C966A p.P322P 1.265e-05 0 Uncertain 7_100550389_A->G 7 100550389 100550389 A G snp 157.77 0/1 99 239 202 37 0.15 exonic rs747768677 MUC3A AU nonsynonymous SNV NM_005960 exon2 c.A970G p.T324A 0.1809 0.2187 0.09 T -1.013 T Pathogenic 7_100550395_A->G 7 100550395 100550395 A G snp 66.77 0/1 95 243 223 20 0.08 exonic rs759956700 MUC3A AU nonsynonymous SNV NM_005960 exon2 c.A976G p.S326G 0.1652 0.1999 0.09 T -1.026 T Pathogenic 7_100550396_G->C 7 100550396 100550396 G C snp 3550.77 0/1 99 242 112 130 0.54 exonic rs74213821 MUC3A AU nonsynonymous SNV NM_005960 exon2 c.G977C p.S326T 0.4094 0.4816 1 T -0.994 T Pathogenic 7_100550399_G->C 7 100550399 100550399 G C snp 32.77 0/1 61 248 219 29 0.12 exonic rs776023456 MUC3A AU nonsynonymous SNV NM_005960 exon2 c.G980C p.R327T 1.79e-05 0 0.32 T -1.008 T Pathogenic 7_100550400_G->A 7 100550400 100550400 G A snp 317.77 0/1 99 248 201 47 0.19 exonic rs761106421 MUC3A AU synonymous SNV NM_005960 exon2 c.G981A p.R327R 7.786e-05 0 Uncertain 7_100550421_C->A 7 100550421 100550421 C A snp 665.77 0/1 99 250 207 43 0.17 exonic rs757446266 MUC3A AU synonymous SNV NM_005960 exon2 c.C1002A p.T334T 2.401e-05 0 Uncertain 7_100550427_C->T 7 100550427 100550427 C T snp 693.77 0/1 99 246 208 38 0.15 exonic rs758310043 MUC3A AU synonymous SNV NM_005960 exon2 c.C1008T p.Y336Y 2.636e-05 0 Uncertain 7_100550428_C->T 7 100550428 100550428 C T snp 680.77 0/1 99 244 207 37 0.15 exonic rs4729627 MUC3A AU nonsynonymous SNV NM_005960 exon2 c.C1009T p.P337S 2.786e-05 0 Pathogenic 7_100550432_C->T 7 100550432 100550432 C T snp 899.77 0/1 99 247 195 52 0.21 exonic rs111924697 MUC3A AU nonsynonymous SNV NM_005960 exon2 c.C1013T p.T338I 0.1301 0.1708 Pathogenic 7_100550437_C->T 7 100550437 100550437 C T snp 207.77 0/1 99 249 221 28 0.11 exonic rs75838996 MUC3A AU nonsynonymous SNV NM_005960 exon2 c.C1018T p.P340S 0.0213 0.0304 Pathogenic 7_100550439_C->T 7 100550439 100550439 C T snp 646.77 0/1 99 232 192 40 0.17 exonic rs79004610 MUC3A AU synonymous SNV NM_005960 exon2 c.C1020T p.P340P 0.0976 0.1685 Uncertain 7_100550442_C->T 7 100550442 100550442 C T snp 1688.77 0/1 99 232 158 74 0.32 exonic rs772371023 MUC3A AU synonymous SNV NM_005960 exon2 c.C1023T p.T341T 0.0947 0.1617 Uncertain 7_100550443_A->G 7 100550443 100550443 A G snp 46.77 0/1 75 232 212 20 0.09 exonic rs775866198 MUC3A AU nonsynonymous SNV NM_005960 exon2 c.A1024G p.S342G 0.0658 0.0801 Pathogenic 7_100550447_C->T 7 100550447 100550447 C T snp 294.77 0/1 99 230 202 28 0.12 exonic rs776762595 MUC3A AU nonsynonymous SNV NM_005960 exon2 c.C1028T p.T343I 0.0003 0 Pathogenic 7_100550452_A->T 7 100550452 100550452 A T snp 316.77 0/1 99 223 197 26 0.12 exonic rs763292509 MUC3A AU nonsynonymous SNV NM_005960 exon2 c.A1033T p.T345S 0.0004 0 Pathogenic 7_100550457_C->G 7 100550457 100550457 C G snp 222.77 0/1 99 220 187 33 0.15 exonic rs781058334 MUC3A AU nonsynonymous SNV NM_005960 exon2 c.C1038G p.D346E 0.0005 0 Pathogenic 7_100550462_C->T 7 100550462 100550462 C T snp 475.77 0/1 99 205 177 28 0.14 exonic rs372836845 MUC3A AU nonsynonymous SNV NM_005960 exon2 c.C1043T p.T348I 0.0391 0.0547 Pathogenic 7_100550463_T->G 7 100550463 100550463 T G snp 2720.77 0/1 99 183 84 99 0.54 exonic rs777284610 MUC3A AU synonymous SNV NM_005960 exon2 c.T1044G p.T348T 0.0800 0.1868 Uncertain 7_100550466_C->T 7 100550466 100550466 C T snp 1062.77 0/1 99 179 133 46 0.26 exonic rs75319202 MUC3A AU synonymous SNV NM_005960 exon2 c.C1047T p.T349T 0.0801 0.1280 Uncertain 7_100550467_A->G 7 100550467 100550467 A G snp 2169.77 0/1 99 180 97 83 0.46 exonic rs78312717 MUC3A AU nonsynonymous SNV NM_005960 exon2 c.A1048G p.K350E 0.0805 0.1273 Pathogenic 7_100550468_A->G 7 100550468 100550468 A G snp 54.77 0/1 83 183 167 16 0.09 exonic rs77331562 MUC3A AU nonsynonymous SNV NM_005960 exon2 c.A1049G p.K350R 0.0269 0.0869 Pathogenic 7_100550471_T->C 7 100550471 100550471 T C snp 883.77 0/1 99 183 140 43 0.23 exonic rs769206651 MUC3A AU nonsynonymous SNV NM_005960 exon2 c.T1052C p.I351T 0.0273 0.0871 Pathogenic 7_100550473_G->A 7 100550473 100550473 G A snp 2825.77 0/1 99 183 77 106 0.58 exonic rs77401364 MUC3A AU nonsynonymous SNV NM_005960 exon2 c.G1054A p.A352T 0.000798722 0.1100 0.2123 Pathogenic 7_100550478_C->T 7 100550478 100550478 C T snp 1753.77 0/1 99 184 114 70 0.38 exonic rs79412130 MUC3A AU synonymous SNV NM_005960 exon2 c.C1059T p.Y353Y Uncertain 7_100550490_G->A 7 100550490 100550490 G A snp 1681.77 0/1 99 209 138 71 0.34 exonic MUC3A AU nonsynonymous SNV NM_005960 exon2 c.G1071A p.M357I Pathogenic 7_100550500_T->C 7 100550500 100550500 T C snp 30.77 0/1 59 215 200 15 0.07 exonic MUC3A AU synonymous SNV NM_005960 exon2 c.T1081C p.L361L Uncertain 7_100550501_T->G 7 100550501 100550501 T G snp 112.77 0/1 99 214 193 21 0.1 exonic MUC3A AU nonsynonymous SNV NM_005960 exon2 c.T1082G p.L361W Pathogenic 7_100550505_C->T 7 100550505 100550505 C T snp 898.77 0/1 99 208 158 50 0.24 exonic rs74715834 MUC3A AU synonymous SNV NM_005960 exon2 c.C1086T p.S362S Uncertain 7_100550507_C->T 7 100550507 100550507 C T snp 143.77 0/1 99 205 186 19 0.09 exonic rs139308151 MUC3A AU nonsynonymous SNV NM_005960 exon2 c.C1088T p.T363I Pathogenic 7_100550508_A->T 7 100550508 100550508 A T snp 2419.77 0/1 99 195 68 127 0.65 exonic MUC3A AU synonymous SNV NM_005960 exon2 c.A1089T p.T363T Uncertain 7_100550510_A->C 7 100550510 100550510 A C snp 985.77 0/1 99 190 124 66 0.35 exonic MUC3A AU nonsynonymous SNV NM_005960 exon2 c.A1091C p.E364A Pathogenic 7_100550511_G->C 7 100550511 100550511 G C snp 449.77 0/1 99 189 149 40 0.21 exonic rs74435283 MUC3A AU nonsynonymous SNV NM_005960 exon2 c.G1092C p.E364D Pathogenic 7_100550513_C->T 7 100550513 100550513 C T snp 651.77 0/1 99 187 146 41 0.22 exonic MUC3A AU nonsynonymous SNV NM_005960 exon2 c.C1094T p.T365I Pathogenic 7_100550514_T->C 7 100550514 100550514 T C snp 437.77 0/1 99 186 160 26 0.14 exonic rs78262970 MUC3A AU synonymous SNV NM_005960 exon2 c.T1095C p.T365T Uncertain 7_100550515_T->A 7 100550515 100550515 T A snp 931.77 0/1 99 186 146 40 0.22 exonic MUC3A AU nonsynonymous SNV NM_005960 exon2 c.T1096A p.S366T Pathogenic 7_100550522_C->G 7 100550522 100550522 C G snp 423.77 0/1 99 179 153 26 0.15 exonic rs76664943 MUC3A AU nonsynonymous SNV NM_005960 exon2 c.C1103G p.P368R Pathogenic 7_100550524_C->G 7 100550524 100550524 C G snp 527.77 0/1 99 171 137 34 0.2 exonic MUC3A AU nonsynonymous SNV NM_005960 exon2 c.C1105G p.P369A Pathogenic 7_100550525_C->T 7 100550525 100550525 C T snp 42.77 0/1 71 170 155 15 0.09 exonic MUC3A AU nonsynonymous SNV NM_005960 exon2 c.C1106T p.P369L Pathogenic 7_100550529_C->T 7 100550529 100550529 C T snp 524.77 0/1 99 165 131 34 0.21 exonic MUC3A AU synonymous SNV NM_005960 exon2 c.C1110T p.T370T Uncertain 7_100550530_T->A 7 100550530 100550530 T A snp 484.77 0/1 99 165 131 34 0.21 exonic MUC3A AU nonsynonymous SNV NM_005960 exon2 c.T1111A p.S371T Pathogenic 7_100550534_C->G 7 100550534 100550534 C G snp 53.77 0/1 82 161 147 14 0.09 exonic MUC3A AU nonsynonymous SNV NM_005960 exon2 c.C1115G p.S372C Pathogenic 7_100550544_A->C 7 100550544 100550544 A C snp 467.77 0/1 99 116 92 24 0.21 exonic rs75037819 MUC3A AU synonymous SNV NM_005960 exon2 c.A1125C p.P375P Uncertain 7_100550552_A->T 7 100550552 100550552 A T snp 467.77 0/1 99 97 74 23 0.24 exonic rs77957081 MUC3A AU nonsynonymous SNV NM_005960 exon2 c.A1133T p.E378V Pathogenic 7_100550562_G->A 7 100550562 100550562 G A snp 305.77 0/1 99 78 62 16 0.21 exonic rs78069287 MUC3A AU synonymous SNV NM_005960 exon2 c.G1143A p.T381T Uncertain 7_100550564_C->T 7 100550564 100550564 C T snp 278.77 0/1 99 66 51 15 0.23 exonic rs75269566 MUC3A AU nonsynonymous SNV NM_005960 exon2 c.C1145T p.T382I Pathogenic 7_100550570_T->C 7 100550570 100550570 T C snp 1147.77 0/1 99 56 22 34 0.61 exonic rs76035900 MUC3A AU nonsynonymous SNV NM_005960 exon2 c.T1151C p.M384T Pathogenic 7_100550571_G->C 7 100550571 100550571 G C snp 1066.77 0/1 99 55 21 34 0.62 exonic rs146166922 MUC3A AU nonsynonymous SNV NM_005960 exon2 c.G1152C p.M384I Pathogenic 7_100550576_A->C 7 100550576 100550576 A C snp 30.77 0/1 59 53 48 5 0.09 exonic MUC3A AU nonsynonymous SNV NM_005960 exon2 c.A1157C p.N386T Pathogenic 7_100550577_C->T 7 100550577 100550577 C T snp 106.77 0/1 99 53 46 7 0.13 exonic rs775932110 MUC3A AU synonymous SNV NM_005960 exon2 c.C1158T p.N386N Uncertain 7_100550593_A->C 7 100550593 100550593 A C snp 89.77 0/1 99 31 26 5 0.16 exonic MUC3A AU nonsynonymous SNV NM_005960 exon2 c.A1174C p.T392P Pathogenic 7_100550596_G->A 7 100550596 100550596 G A snp 201.77 0/1 99 31 23 8 0.26 exonic rs74991890 MUC3A AU nonsynonymous SNV NM_005960 exon2 c.G1177A p.E393K Pathogenic 7_100550598_G->T 7 100550598 100550598 G T snp 67.77 0/1 96 31 26 5 0.16 exonic MUC3A AU nonsynonymous SNV NM_005960 exon2 c.G1179T p.E393D Pathogenic 7_100550600_T->C 7 100550600 100550600 T C snp 291.77 0/1 99 31 21 10 0.32 exonic MUC3A AU nonsynonymous SNV NM_005960 exon2 c.T1181C p.I394T Pathogenic 7_100550601_C->A 7 100550601 100550601 C A snp 31.77 0/1 60 31 27 4 0.13 exonic rs79112841 MUC3A AU synonymous SNV NM_005960 exon2 c.C1182A p.I394I Uncertain 7_100550602_T->A 7 100550602 100550602 T A snp 516.77 0/1 99 31 15 16 0.52 exonic rs80036331 MUC3A AU nonsynonymous SNV NM_005960 exon2 c.T1183A p.S395T Pathogenic 7_100550604_C->A 7 100550604 100550604 C A snp 50.77 0/1 79 30 26 4 0.13 exonic rs74878158 MUC3A AU synonymous SNV NM_005960 exon2 c.C1185A p.S395S Uncertain 7_100550609_A->T 7 100550609 100550609 A T snp 40.77 0/1 69 28 24 4 0.14 exonic MUC3A AU nonsynonymous SNV NM_005960 exon2 c.A1190T p.H397L Pathogenic 7_100550610_C->T 7 100550610 100550610 C T snp 82.77 0/1 99 28 23 5 0.18 exonic MUC3A AU synonymous SNV NM_005960 exon2 c.C1191T p.H397H Uncertain 7_100550616_T->C 7 100550616 100550616 T C snp 109.77 0/1 99 23 18 5 0.22 exonic MUC3A AU synonymous SNV NM_005960 exon2 c.T1197C p.T399T Uncertain 7_100550626_T->A 7 100550626 100550626 T A snp 166.77 0/1 99 18 11 7 0.39 exonic rs78592305 MUC3A AU nonsynonymous SNV NM_005960 exon2 c.T1207A p.S403T Pathogenic 7_100550631_A->T 7 100550631 100550631 A T snp 306.77 0/1 99 16 5 11 0.69 exonic rs72494465 MUC3A AU synonymous SNV NM_005960 exon2 c.A1212T p.S404S Uncertain 7_100550673_A->C 7 100550673 100550673 A C snp 436.77 0/1 99 77 41 36 0.47 exonic rs73398722 MUC3A AU nonsynonymous SNV NM_005960 exon2 c.A1254C p.R418S 1 1 Pathogenic 7_100550694_T->C 7 100550694 100550694 T C snp 715.77 0/1 99 120 54 66 0.55 exonic rs73398723 MUC3A AU synonymous SNV NM_005960 exon2 c.T1275C p.T425T 1 1 Uncertain 7_100550704_C->A 7 100550704 100550704 C A snp 40.77 0/1 69 156 119 37 0.24 exonic rs141925032 MUC3A AU nonsynonymous SNV NM_005960 exon2 c.C1285A p.P429T 0.0208 . Pathogenic 7_100550724_A->C 7 100550724 100550724 A C snp 989.77 0/1 99 205 77 128 0.62 exonic rs73398725 MUC3A AU nonsynonymous SNV NM_005960 exon2 c.A1305C p.R435S 1 1 0.1923 0 Pathogenic 7_100550737_T->A 7 100550737 100550737 T A snp 3525.77 1/1 99 203 3 200 0.99 exonic rs66606045 MUC3A AU nonsynonymous SNV NM_005960 exon2 c.T1318A p.F440I 0.999601 0.998 0.5132 0.5098 Pathogenic 7_100550766_A->C 7 100550766 100550766 A C snp 3643.77 ./1 99 189 6 183 0.97 exonic rs28654698 MUC3A AU nonsynonymous SNV NM_005960 exon2 c.A1347C p.R449S 0.5025 0.5053 Pathogenic 7_100550766_A->T 7 100550766 100550766 A T snp 3643.77 ./1 99 189 6 183 0.97 exonic rs28654698 MUC3A AU nonsynonymous SNV NM_005960 exon2 c.A1347T p.R449S 1 1 9.769e-05 0 Pathogenic 7_100550767_T->A 7 100550767 100550767 T A snp 1193.77 0/1 99 188 51 137 0.73 exonic rs28546921 MUC3A AU nonsynonymous SNV NM_005960 exon2 c.T1348A p.S450T 1 1 0.0003 0.0005 Pathogenic 7_100550786_T->C 7 100550786 100550786 T C snp 1428.77 0/1 99 225 122 103 0.46 exonic rs79714278 MUC3A AU nonsynonymous SNV NM_005960 exon2 c.T1367C p.L456S 0.4864 0.5005 Pathogenic 7_100550791_A->G 7 100550791 100550791 A G snp 38.77 0/1 67 234 204 30 0.13 exonic rs80228227 MUC3A AU nonsynonymous SNV NM_005960 exon2 c.A1372G p.T458A 9.253e-06 0 Pathogenic 7_100550799_G->C 7 100550799 100550799 G C snp 2964.77 ./1 99 235 30 205 0.87 exonic rs28705341 MUC3A AU synonymous SNV NM_005960 exon2 c.G1380C p.T460T 0.513379 0.5099 0.4454 0.4596 Uncertain 7_100550799_G->T 7 100550799 100550799 G T snp 2964.77 ./1 99 235 30 205 0.87 exonic rs28705341 MUC3A AU synonymous SNV NM_005960 exon2 c.G1380T p.T460T 0.461062 0.4881 1.462e-05 0 Uncertain 7_100550800_G->A 7 100550800 100550800 G A snp 54.77 0/1 83 242 215 27 0.11 exonic rs28420633 MUC3A AU nonsynonymous SNV NM_005960 exon2 c.G1381A p.E461K 6.439e-05 0.0012 Pathogenic 7_100550808_C->A 7 100550808 100550808 C A snp 557.77 0/1 99 245 193 52 0.21 exonic rs368043565 MUC3A AU synonymous SNV NM_005960 exon2 c.C1389A p.T463T 0.0678914 0.0784 0.2782 0.2011 Uncertain 7_100550811_A->C 7 100550811 100550811 A C snp 446.77 0/1 99 244 208 36 0.15 exonic rs371970072 MUC3A AU synonymous SNV NM_005960 exon2 c.A1392C p.S464S 0.0678914 0.0784 0.2903 0.2236 Uncertain 7_100550816_G->A 7 100550816 100550816 G A snp 536.77 0/1 99 248 212 36 0.15 exonic rs62483690 MUC3A AU nonsynonymous SNV NM_005960 exon2 c.G1397A p.S466N 0.2413 0.2215 Pathogenic 7_100550818_A->C 7 100550818 100550818 A C snp 207.77 0/1 99 247 218 29 0.12 exonic rs750477060 MUC3A AU nonsynonymous SNV NM_005960 exon2 c.A1399C p.T467P Pathogenic 7_100550827_T->C 7 100550827 100550827 T C snp 294.77 0/1 99 249 228 21 0.08 exonic rs760531164 MUC3A AU nonsynonymous SNV NM_005960 exon2 c.T1408C p.F470L 0.1594 0.1310 Pathogenic 7_100550837_C->T 7 100550837 100550837 C T snp 217.77 0/1 99 248 215 33 0.13 exonic rs78118592 MUC3A AU nonsynonymous SNV NM_005960 exon2 c.C1418T p.S473L 0.0634984 0.0575 0.4476 0.4 Pathogenic 7_100550838_G->A 7 100550838 100550838 G A snp 678.77 0/1 99 246 157 89 0.36 exonic rs372391962 MUC3A AU synonymous SNV NM_005960 exon2 c.G1419A p.S473S 0.228634 0.2321 0.1567 0.1189 Uncertain 7_100550842_A->G 7 100550842 100550842 A G snp 96.77 0/1 99 248 190 58 0.23 exonic rs753077364 MUC3A AU nonsynonymous SNV NM_005960 exon2 c.A1423G p.T475A 8.509e-05 0 Pathogenic 7_100550850_C->T 7 100550850 100550850 C T snp 176.77 0/1 99 247 194 53 0.21 exonic rs62483691 MUC3A AU synonymous SNV NM_005960 exon2 c.C1431T p.T477T 0.0477 0.0660 Uncertain 7_100550851_G->A 7 100550851 100550851 G A snp 85.77 0/1 99 246 225 21 0.09 exonic rs113108647 MUC3A AU nonsynonymous SNV NM_005960 exon2 c.G1432A p.E478K 0.0983 0.0738 Pathogenic 7_100550869_G->A 7 100550869 100550869 G A snp 889.77 0/1 99 219 50 169 0.77 exonic rs62483692 MUC3A AU nonsynonymous SNV NM_005960 exon2 c.G1450A p.A484T 0.186302 0.2371 0.0990 0.0787 Pathogenic 7_100550873_G->A 7 100550873 100550873 G A snp 1771.77 ./1 99 223 20 203 0.91 exonic rs74836112 MUC3A AU nonsynonymous SNV NM_005960 exon2 c.G1454A p.R485H 0.357628 0.4335 0.4357 0.5356 Pathogenic 7_100550873_G->C 7 100550873 100550873 G C snp 1771.77 ./1 99 223 20 203 0.91 exonic rs74836112 MUC3A AU nonsynonymous SNV NM_005960 exon2 c.G1454C p.R485P 0.319888 0.249 0.1511 0.0728 Pathogenic 7_100550888_C->T 7 100550888 100550888 C T snp 157.77 0/1 99 234 210 24 0.1 exonic rs75454659 MUC3A AU nonsynonymous SNV NM_005960 exon2 c.C1469T p.S490L 0.0209 0.0132 Pathogenic 7_100550889_G->A 7 100550889 100550889 G A snp 602.77 0/1 99 234 135 99 0.42 exonic rs111579886 MUC3A AU synonymous SNV NM_005960 exon2 c.G1470A p.S490S 0.0033 0.0035 Uncertain 7_100550893_A->G 7 100550893 100550893 A G snp 149.77 0/1 99 233 192 41 0.18 exonic rs766383810 MUC3A AU nonsynonymous SNV NM_005960 exon2 c.A1474G p.T492A 0.0004 0.0001 Pathogenic 7_100550901_C->T 7 100550901 100550901 C T snp 224.77 0/1 99 234 168 66 0.28 exonic rs113663819 MUC3A AU synonymous SNV NM_005960 exon2 c.C1482T p.T494T 0.00738818 0.004 0.0004 0.0001 Uncertain 7_100550918_A->G 7 100550918 100550918 A G snp 778.77 0/1 99 226 118 108 0.48 exonic rs77308187 MUC3A AU nonsynonymous SNV NM_005960 exon2 c.A1499G p.N500S 0.00139776 0.0013 0.0004 Pathogenic 7_100550924_G->C 7 100550924 100550924 G C snp 1664.77 0/1 99 229 47 182 0.79 exonic rs559034967 MUC3A AU nonsynonymous SNV NM_005960 exon2 c.G1505C p.R502P 0.0127796 0.0238 0.0013 0.0003 Pathogenic 7_100550925_G->C 7 100550925 100550925 G C snp 3111.77 1/1 99 231 9 222 0.96 exonic rs10953310 MUC3A AU synonymous SNV NM_005960 exon2 c.G1506C p.R502R 0.958267 0.999 0.925881 0.9206 0.9932 Uncertain 7_100550940_G->A 7 100550940 100550940 G A snp 404.77 0/1 99 231 144 87 0.38 exonic rs745350496 MUC3A AU synonymous SNV NM_005960 exon2 c.G1521A p.S507S 3.764e-05 0 Uncertain 7_100550944_A->G 7 100550944 100550944 A G snp 45.77 0/1 74 233 205 28 0.12 exonic rs763377540 MUC3A AU nonsynonymous SNV NM_005960 exon2 c.A1525G p.T509A 9.336e-06 0 Pathogenic 7_100550952_C->T 7 100550952 100550952 C T snp 78.77 0/1 99 233 177 56 0.24 exonic rs74474298 MUC3A AU synonymous SNV NM_005960 exon2 c.C1533T p.T511T 0.0003 0 Uncertain 7_100550961_C->A 7 100550961 100550961 C A snp 211.77 0/1 99 233 173 60 0.26 exonic rs75289399 MUC3A AU nonsynonymous SNV NM_005960 exon2 c.C1542A p.N514K 0.0002 0 Pathogenic 7_100550964_T->A 7 100550964 100550964 T A snp 695.77 0/1 99 235 86 149 0.63 exonic rs377319921 MUC3A AU synonymous SNV NM_005960 exon2 c.T1545A p.S515S 1.52e-05 0 Uncertain 7_100550974_A->C 7 100550974 100550974 A C snp 1182.77 0/1 99 247 68 179 0.72 exonic rs78658540 MUC3A AU nonsynonymous SNV NM_005960 exon2 c.A1555C p.T519P 0.0006 0 Pathogenic 7_100550991_G->A 7 100550991 100550991 G A snp 470.77 0/1 99 247 192 55 0.22 exonic rs62483693 MUC3A AU synonymous SNV NM_005960 exon2 c.G1572A p.S524S 0.0119808 0.003 0.0128 0.0001 Uncertain 7_100550995_A->G 7 100550995 100550995 A G snp 218.77 0/1 99 245 183 62 0.25 exonic MUC3A AU nonsynonymous SNV NM_005960 exon2 c.A1576G p.T526A Pathogenic 7_100551035_G->C 7 100551035 100551035 G C snp 525.77 0/1 99 204 112 92 0.45 exonic rs62483695 MUC3A AU nonsynonymous SNV NM_005960 exon2 c.G1616C p.S539T 0.1135 0.1725 Pathogenic 7_100551065_T->C 7 100551065 100551065 T C snp 62.77 0/1 91 144 114 30 0.21 exonic rs78250618 MUC3A AU nonsynonymous SNV NM_005960 exon2 c.T1646C p.L549S 0.0159744 0.0288 0.0007 0 Pathogenic 7_100551122_T->G 7 100551122 100551122 T G snp 120.77 0/1 99 188 143 45 0.24 exonic rs72494466 MUC3A AU nonsynonymous SNV NM_005960 exon2 c.T1703G p.I568S 0.00299521 0.0099 0.0015 0.0090 Pathogenic 7_100551124_A->C 7 100551124 100551124 A C snp 68.77 0/1 97 207 178 29 0.14 exonic MUC3A AU nonsynonymous SNV NM_005960 exon2 c.A1705C p.T569P Pathogenic 7_100551129_T->C 7 100551129 100551129 T C snp 261.77 0/1 99 202 156 46 0.23 exonic rs760549664 MUC3A AU synonymous SNV NM_005960 exon2 c.T1710C p.P570P 0.0006 0.0033 Uncertain 7_100551130_G->A 7 100551130 100551130 G A snp 159.77 0/1 99 204 170 34 0.17 exonic rs768640080 MUC3A AU nonsynonymous SNV NM_005960 exon2 c.G1711A p.G571S 0.0007 0.0036 Pathogenic 7_100551133_C->T 7 100551133 100551133 C T snp 657.77 0/1 99 212 148 64 0.3 exonic rs113251740 MUC3A AU nonsynonymous SNV NM_005960 exon2 c.C1714T p.L572F 0.0004 0.0022 Pathogenic 7_100551148_A->C 7 100551148 100551148 A C snp 53.77 0/1 82 250 208 42 0.17 exonic MUC3A AU nonsynonymous SNV NM_005960 exon2 c.A1729C p.T577P Pathogenic 7_100551162_T->C 7 100551162 100551162 T C snp 980.77 0/1 99 247 158 89 0.36 exonic rs76882759 MUC3A AU synonymous SNV NM_005960 exon2 c.T1743C p.T581T 0.0275559 0.0893 Uncertain 7_100551173_G->A 7 100551173 100551173 G A snp 209.77 0/1 99 250 223 27 0.11 exonic rs772607541 MUC3A AU nonsynonymous SNV NM_005960 exon2 c.G1754A p.S585N 8.878e-06 0 Pathogenic 7_100551180_C->T 7 100551180 100551180 C T snp 1922.77 0/1 99 250 165 85 0.34 exonic rs10248095 MUC3A AU synonymous SNV NM_005960 exon2 c.C1761T p.P587P 0.407748 0.4464 0.4456 0.5287 Uncertain 7_100551181_G->A 7 100551181 100551181 G A snp 721.77 0/1 99 250 177 73 0.29 exonic rs75842043 MUC3A AU nonsynonymous SNV NM_005960 exon2 c.G1762A p.G588S 0.0305511 0.1042 2.95e-05 0 Pathogenic 7_100551188_C->T 7 100551188 100551188 C T snp 416.77 0/1 99 250 212 38 0.15 exonic rs77279518 MUC3A AU nonsynonymous SNV NM_005960 exon2 c.C1769T p.T590I Pathogenic 7_100551189_T->G 7 100551189 100551189 T G snp 532.77 0/1 99 250 216 34 0.14 exonic rs78826529 MUC3A AU synonymous SNV NM_005960 exon2 c.T1770G p.T590T Uncertain 7_100551207_T->C 7 100551207 100551207 T C snp 2103.77 0/1 99 243 147 96 0.4 exonic rs75797960 MUC3A AU synonymous SNV NM_005960 exon2 c.T1788C p.T596T Uncertain 7_100551208_G->A 7 100551208 100551208 G A snp 1437.77 0/1 99 246 172 74 0.3 exonic rs772841248 MUC3A AU nonsynonymous SNV NM_005960 exon2 c.G1789A p.E597K 1.773e-05 0 Pathogenic 7_100551220_G->C 7 100551220 100551220 G C snp 3081.77 0/1 99 239 118 121 0.51 exonic rs79017193 MUC3A AU nonsynonymous SNV NM_005960 exon2 c.G1801C p.E601Q 0.192692 0.1617 0.0723 0.0200 Pathogenic 7_100551222_G->T 7 100551222 100551222 G T snp 1741.77 0/1 99 240 114 126 0.53 exonic MUC3A AU nonsynonymous SNV NM_005960 exon2 c.G1803T p.E601D Pathogenic 7_100551228_T->C 7 100551228 100551228 T C snp 2360.77 0/1 99 248 145 103 0.42 exonic MUC3A AU synonymous SNV NM_005960 exon2 c.T1809C p.T603T Uncertain 7_100551229_C->A 7 100551229 100551229 C A snp 1091.77 0/1 99 249 190 59 0.24 exonic MUC3A AU nonsynonymous SNV NM_005960 exon2 c.C1810A p.P604T Pathogenic 7_100551235_C->T 7 100551235 100551235 C T snp 3912.77 0/1 99 249 99 150 0.6 exonic rs73163756 MUC3A AU nonsynonymous SNV NM_005960 exon2 c.C1816T p.L606F 1.783e-05 0 Pathogenic 7_100551239_G->C 7 100551239 100551239 G C snp 3879.77 0/1 99 247 105 142 0.57 exonic rs76539110 MUC3A AU nonsynonymous SNV NM_005960 exon2 c.G1820C p.S607T 2.672e-05 0 Pathogenic 7_100551253_T->C 7 100551253 100551253 T C snp 1928.77 0/1 99 250 168 82 0.33 exonic rs77244991 MUC3A AU nonsynonymous SNV NM_005960 exon2 c.T1834C p.Y612H 0.47 T 0.711 N -0.917 T Pathogenic 7_100551261_A->C 7 100551261 100551261 A C snp 813.77 0/1 99 250 199 51 0.2 exonic MUC3A AU synonymous SNV NM_005960 exon2 c.A1842C p.T614T Uncertain 7_100551262_G->A 7 100551262 100551262 G A snp 371.77 0/1 99 250 216 34 0.14 exonic MUC3A AU nonsynonymous SNV NM_005960 exon2 c.G1843A p.V615I 0.12 T 0.723 N -0.977 T Pathogenic 7_100551263_T->C 7 100551263 100551263 T C snp 151.77 0/1 99 250 215 35 0.14 exonic MUC3A AU nonsynonymous SNV NM_005960 exon2 c.T1844C p.V615A 0.48 T 0.723 N -0.959 T Pathogenic 7_100551268_A->T 7 100551268 100551268 A T snp 583.77 0/1 99 250 217 33 0.13 exonic rs75879657 MUC3A AU nonsynonymous SNV NM_005960 exon2 c.A1849T p.T617S 1.777e-05 0 0.73 T 1.000 N -0.936 T Pathogenic 7_100551272_C->A 7 100551272 100551272 C A snp 138.77 0/1 99 250 227 23 0.09 exonic rs371389894 MUC3A AU nonsynonymous SNV NM_005960 exon2 c.C1853A p.S618Y 0.00219649 0.002616 0.0005 0 0.06 T 0.723 N -1.006 T Pathogenic 7_100551286_A->T 7 100551286 100551286 A T snp 1388.77 0/1 99 250 191 59 0.24 exonic rs112690320 MUC3A AU nonsynonymous SNV NM_005960 exon2 c.A1867T p.T623S 2.657e-05 0 1 T 0.711 N -0.967 T Pathogenic 7_100551293_A->C 7 100551293 100551293 A C snp 1134.77 0/1 99 188 140 48 0.26 exonic rs74183623 MUC3A AU nonsynonymous SNV NM_005960 exon2 c.A1874C p.H625P 0.0002 0.0001 0.23 T 0.711 N -1.012 T Pathogenic 7_100551297_T->C 7 100551297 100551297 T C snp 1219.77 0/1 99 192 144 48 0.25 exonic rs74892555 MUC3A AU synonymous SNV NM_005960 exon2 c.T1878C p.F626F 0.0002 0.0001 Uncertain 7_100551304_T->G 7 100551304 100551304 T G snp 1398.77 0/1 99 206 151 55 0.27 exonic rs77397007 MUC3A AU nonsynonymous SNV NM_005960 exon2 c.T1885G p.S629A 0.0002 0.0001 0.42 T 0.723 N -0.922 T Pathogenic 7_100551314_C->G 7 100551314 100551314 C G snp 1560.77 0/1 99 224 160 64 0.29 exonic rs79779043 MUC3A AU nonsynonymous SNV NM_005960 exon2 c.C1895G p.A632G 0.0002 0.0001 0.43 T 0.723 N -0.709 T Pathogenic 7_100551322_C->T 7 100551322 100551322 C T snp 1858.77 0/1 99 240 166 74 0.31 exonic rs76260977 MUC3A AU nonsynonymous SNV NM_005960 exon2 c.C1903T p.P635S 0.0003 0.0001 0.76 T 0.711 N -0.929 T Pathogenic 7_100551331_G->T 7 100551331 100551331 G T snp 1648.77 0/1 99 246 175 71 0.29 exonic rs77979106 MUC3A AU nonsynonymous SNV NM_005960 exon2 c.G1912T p.V638L 0.0005 0.0002 0.33 T 0.729 N -0.978 T Pathogenic 7_100551332_T->C 7 100551332 100551332 T C snp 1767.77 0/1 99 247 176 71 0.29 exonic rs77022449 MUC3A AU nonsynonymous SNV NM_005960 exon2 c.T1913C p.V638A 0.0005 0.0002 0.74 T 1.000 N -0.918 T Pathogenic 7_100551334_A->T 7 100551334 100551334 A T snp 1455.77 0/1 99 249 186 63 0.25 exonic rs76311216 MUC3A AU nonsynonymous SNV NM_005960 exon2 c.A1915T p.T639S 0.0005 0.0002 0.93 T 0.711 N -0.975 T Pathogenic 7_100551370_A->T 7 100551370 100551370 A T snp 1970.77 0/1 99 208 131 77 0.37 exonic rs78124935 MUC3A AU nonsynonymous SNV NM_005960 exon2 c.A1951T p.S651C 0.0502 0.0396 0.01 T 0.999 N -0.969 T Pathogenic 7_100551371_G->C 7 100551371 100551371 G C snp 2085.77 0/1 99 207 133 74 0.36 exonic rs75463292 MUC3A AU nonsynonymous SNV NM_005960 exon2 c.G1952C p.S651T 0.0520 0.0404 1 T 0.718 N -0.930 T Pathogenic 7_100551376_C->A 7 100551376 100551376 C A snp 1976.77 0/1 99 218 142 76 0.35 exonic rs75808610 MUC3A AU synonymous SNV NM_005960 exon2 c.C1957A p.R653R 0.0521 0.0404 Uncertain 7_100551390_T->A 7 100551390 100551390 T A snp 1766.77 0/1 99 224 155 69 0.31 exonic rs77795035 MUC3A AU synonymous SNV NM_005960 exon2 c.T1971A p.P657P 0.0804 0.0664 Uncertain 7_100551392_C->T 7 100551392 100551392 C T snp 1850.77 0/1 99 225 156 69 0.31 exonic rs75008337 MUC3A AU nonsynonymous SNV NM_005960 exon2 c.C1973T p.S658L 0.00119808 0.006 0.0824 0.0723 0.28 T 0.723 N -0.974 T Pathogenic 7_100551393_G->A 7 100551393 100551393 G A snp 1825.77 0/1 99 228 158 70 0.31 exonic rs79067082 MUC3A AU synonymous SNV NM_005960 exon2 c.G1974A p.S658S 0.000399361 0.002 0.0808 0.0663 Uncertain 7_100551397_G->T 7 100551397 100551397 G T snp 1835.77 0/1 99 239 169 70 0.29 exonic rs79748732 MUC3A AU nonsynonymous SNV NM_005960 exon2 c.G1978T p.V660L 0.1199 0.1075 0.47 T 0.635 N -0.978 T Pathogenic 7_100551400_G->A 7 100551400 100551400 G A snp 1809.77 0/1 99 242 172 70 0.29 exonic rs75496565 MUC3A AU nonsynonymous SNV NM_005960 exon2 c.G1981A p.G661S 0.1227 0.1095 1 T 1.000 N -0.917 T Pathogenic 7_100551401_G->A 7 100551401 100551401 G A snp 414.77 0/1 99 249 218 31 0.12 exonic rs201895111 MUC3A AU nonsynonymous SNV NM_005960 exon2 c.G1982A p.G661D 0.0022 0.0004 0.37 T -0.936 T Pathogenic 7_100551433_T->C 7 100551433 100551433 T C snp 2230.77 0/1 99 250 160 90 0.36 exonic rs73398732 MUC3A AU nonsynonymous SNV NM_005960 exon2 c.T2014C p.F672L 0.2078 0.1945 0.56 T 0.718 N -0.923 T Pathogenic 7_100551461_C->G 7 100551461 100551461 C G snp 2454.77 0/1 99 250 148 102 0.41 exonic rs78826835 MUC3A AU nonsynonymous SNV NM_005960 exon2 c.C2042G p.T681S 0.4768 0.4802 0.87 T 0.635 N -0.910 T Pathogenic 7_100551471_T->C 7 100551471 100551471 T C snp 2340.77 0/1 99 246 146 100 0.41 exonic rs78831742 MUC3A AU synonymous SNV NM_005960 exon2 c.T2052C p.T684T 0.4779 0.4808 Uncertain 7_100551473_G->C 7 100551473 100551473 G C snp 2318.77 0/1 99 246 146 100 0.41 exonic rs79233494 MUC3A AU nonsynonymous SNV NM_005960 exon2 c.G2054C p.R685P 0.4810 0.4834 0.43 T 0.711 N -0.927 T Pathogenic 7_100551476_C->T 7 100551476 100551476 C T snp 2300.77 0/1 99 249 148 101 0.41 exonic rs74460367 MUC3A AU nonsynonymous SNV NM_005960 exon2 c.C2057T p.T686I 0.4826 0.4824 0.17 T 0.723 N -0.978 T Pathogenic 7_100551516_A->G 7 100551516 100551516 A G snp 793.77 0/1 99 250 200 50 0.2 exonic rs113219051 MUC3A AU synonymous SNV NM_005960 exon2 c.A2097G p.E699E 0.1298 0.0894 Uncertain 7_100551565_A->G 7 100551565 100551565 A G snp 2976.77 0/1 99 250 144 106 0.42 exonic rs73163757 MUC3A AU nonsynonymous SNV NM_005960 exon2 c.A2146G p.M716V 0.4995 0.4995 0.52 T 0.648 N -0.942 T 0.0 T 0.0 T Pathogenic 7_100551566_T->C 7 100551566 100551566 T C snp 2880.77 0/1 99 249 145 104 0.42 exonic rs78538898 MUC3A AU nonsynonymous SNV NM_005960 exon2 c.T2147C p.M716T 0.4995 0.4995 0.73 T 1.000 N -0.909 T 0.0 T 0.0 T Pathogenic 7_100551578_T->G 7 100551578 100551578 T G snp 2915.77 0/1 99 250 140 110 0.44 exonic rs78584246 MUC3A AU nonsynonymous SNV NM_005960 exon2 c.T2159G p.I720S 0.4992 0.4995 1 T 0.711 N -0.942 T 0.0 T 0.0 T Pathogenic 7_100551626_T->C 7 100551626 100551626 T C snp 2777.77 0/1 99 250 144 106 0.42 exonic rs73714238 MUC3A AU nonsynonymous SNV NM_005960 exon2 c.T2207C p.I736T 0.153554 0.0149 0.4984 0.4925 0.64 T 1.000 N -0.909 T 0.0 T 0.0 T Pathogenic 7_100551637_-->CAA 7 100551637 100551637 - CAA indel 4844.73 0/1 99 249 140 109 0.44 exonic rs112753297 MUC3A AU nonframeshift insertion NM_005960 exon2 c.2218_2219insCAA p.P740delinsPT 0.4788 0.4801 ID=COSM1622100,COSM1622099;OCCURENCE=1(liver) Uncertain 7_100551646_A->G 7 100551646 100551646 A G snp 2785.77 0/1 99 250 146 104 0.42 exonic rs77153975 MUC3A AU nonsynonymous SNV NM_005960 exon2 c.A2227G p.T743A 0.4822 0.4839 0.8 T 0.648 N -0.893 T 0.0 T 0.0 T Pathogenic 7_100551662_C->T 7 100551662 100551662 C T snp 2650.77 0/1 99 247 150 97 0.39 exonic rs78684063 MUC3A AU nonsynonymous SNV NM_005960 exon2 c.C2243T p.T748M 0.4788 0.4768 0.18 T 0.723 N -0.975 T 0.063 T 0.002 T Pathogenic 7_100551666_A->T 7 100551666 100551666 A T snp 2854.77 0/1 99 250 148 102 0.41 exonic rs74318947 MUC3A AU synonymous SNV NM_005960 exon2 c.A2247T p.S749S 0.4793 0.4778 Uncertain 7_100551687_T->C 7 100551687 100551687 T C snp 2794.77 0/1 99 250 150 100 0.4 exonic rs73714240 MUC3A AU synonymous SNV NM_005960 exon2 c.T2268C p.S756S 0.4870 0.4857 Uncertain 7_100551692_C->T 7 100551692 100551692 C T snp 2713.77 0/1 99 250 146 104 0.42 exonic rs73714242 MUC3A AU nonsynonymous SNV NM_005960 exon2 c.C2273T p.A758V 0.4880 0.4850 0.35 T 0.711 N -0.964 T 0.0 T 0.0 T Pathogenic 7_100551711_T->C 7 100551711 100551711 T C snp 2046.77 0/1 99 249 171 78 0.31 exonic rs113829577 MUC3A AU synonymous SNV NM_005960 exon2 c.T2292C p.F764F 0.148363 0.1548 0.181025 0.1911 0.1510 Uncertain 7_100551719_C->T 7 100551719 100551719 C T snp 2976.77 0/1 99 250 135 115 0.46 exonic rs73714243 MUC3A AU nonsynonymous SNV NM_005960 exon2 c.C2300T p.T767M 0.4957 0.4969 0.21 T 0.723 N -0.962 T 0.003 T 0.0 T Pathogenic 7_100551729_C->T 7 100551729 100551729 C T snp 3016.77 0/1 99 249 139 110 0.44 exonic rs73714244 MUC3A AU synonymous SNV NM_005960 exon2 c.C2310T p.S770S 0.4968 0.4978 Uncertain 7_100551773_C->A 7 100551773 100551773 C A snp 2935.77 0/1 99 250 145 105 0.42 exonic rs73398734 MUC3A AU nonsynonymous SNV NM_005960 exon2 c.C2354A p.T785K 0.4993 0.4990 0.69 T 0.729 N -0.984 T 0.94 T 0.278 D Pathogenic 7_100551778_G->A 7 100551778 100551778 G A snp 2789.77 0/1 99 250 151 99 0.4 exonic rs73714247 MUC3A AU nonsynonymous SNV NM_005960 exon2 c.G2359A p.V787M 0.4993 0.4991 0.28 T 0.635 N -0.946 T 0.0 T 0.0 T Pathogenic 7_100551793_G->T 7 100551793 100551793 G T snp 3099.77 0/1 99 250 136 114 0.46 exonic rs73398735 MUC3A AU nonsynonymous SNV NM_005960 exon2 c.G2374T p.V792F 0.4991 0.4984 0.71 T 0.711 N -0.932 T 0.531 P 0.022 P Pathogenic 7_100551840_T->A 7 100551840 100551840 T A snp 3068.77 0/1 99 250 142 108 0.43 exonic rs78273697 MUC3A AU synonymous SNV NM_005960 exon2 c.T2421A p.S807S 0.4990 0.4999 Uncertain 7_100551842_C->T 7 100551842 100551842 C T snp 2691.77 0/1 99 250 147 103 0.41 exonic rs75365561 MUC3A AU nonsynonymous SNV NM_005960 exon2 c.C2423T p.T808I 0.4988 0.4998 0.4 T 0.711 N -0.923 T 0.0 T 0.0 T Pathogenic 7_100551843_T->C 7 100551843 100551843 T C snp 2846.77 0/1 99 249 145 104 0.42 exonic rs75524285 MUC3A AU synonymous SNV NM_005960 exon2 c.T2424C p.T808T 0.4990 0.4999 Uncertain 7_100551849_A->T 7 100551849 100551849 A T snp 3639.77 0/1 99 250 129 121 0.48 exonic rs77242346 MUC3A AU synonymous SNV NM_005960 exon2 c.A2430T p.S810S 0.4990 0.4999 Uncertain 7_100552017_C->T 7 100552017 100552017 C T snp 2004.77 0/1 99 250 172 78 0.31 exonic rs9691167 MUC3A AU synonymous SNV NM_005960 exon2 c.C2598T p.F866F 0.426717 0.5208 0.352633 0.3465 0.3843 Uncertain 7_100552018_T->G 7 100552018 100552018 T G snp 3330.77 0/1 99 248 136 112 0.45 exonic rs76249962 MUC3A AU nonsynonymous SNV NM_005960 exon2 c.T2599G p.S867A 0.4997 0.4994 0.48 T 1.0 N -0.963 T 0.0 T 0.0 T Pathogenic 7_100552020_C->T 7 100552020 100552020 C T snp 3300.77 0/1 99 250 139 111 0.44 exonic rs78680358 MUC3A AU synonymous SNV NM_005960 exon2 c.C2601T p.S867S 0.4997 0.4994 Uncertain 7_100552044_T->G 7 100552044 100552044 T G snp 3209.76 0/1 99 250 136 114 0.46 exonic rs73714250 MUC3A AU synonymous SNV NM_005960 exon2 c.T2625G p.S875S 0.4999 0.5 Uncertain 7_100552094_G->C 7 100552094 100552094 G C snp 3224.61 0/1 99 249 136 113 0.45 exonic rs62483698 MUC3A AU nonsynonymous SNV NM_005960 exon2 c.G2675C p.G892A 0.515696 0.5067 0.5001 1 T 0.723 P -0.952 T 0.0 T 0.0 T Pathogenic 7_100552117_G->T 7 100552117 100552117 G T snp 3243.77 0/1 99 250 133 117 0.47 exonic rs62483699 MUC3A AU nonsynonymous SNV NM_005960 exon2 c.G2698T p.A900S 0.000399361 0.4996 0.4993 1 T 0.627 N -1.066 T 0.917 T 0.292 D Pathogenic 7_100552135_T->C 7 100552135 100552135 T C snp 3153.77 0/1 99 250 132 118 0.47 exonic rs62483700 MUC3A AU nonsynonymous SNV NM_005960 exon2 c.T2716C p.S906P 0.000199681 0.4997 0.4998 1 T 1.000 N -0.922 T 0.0 T 0.0 T Pathogenic 7_100552251_T->C 7 100552251 100552251 T C snp 5197.77 0/1 99 248 68 180 0.73 exonic rs9691900 MUC3A AU synonymous SNV NM_005960 exon2 c.T2832C p.S944S 0.426917 0.5208 0.6068 0.6433 Uncertain 7_100552311_C->T 7 100552311 100552311 C T snp 4691.77 0/1 99 250 72 178 0.71 exonic rs12535515 MUC3A AU synonymous SNV NM_005960 exon2 c.C2892T p.T964T 0.155751 0.1706 0.5257 0.5187 Uncertain 7_100552338_C->T 7 100552338 100552338 C T snp 2961.77 0/1 99 249 136 113 0.45 exonic rs73398798 MUC3A AU synonymous SNV NM_005960 exon2 c.C2919T p.T973T 0.000199681 0.452738 0.4960 0.4913 Uncertain 7_100552358_C->G 7 100552358 100552358 C G snp 2874.77 0/1 99 250 143 107 0.43 exonic rs73714254 MUC3A AU nonsynonymous SNV NM_005960 exon2 c.C2939G p.T980S 0.000199681 0.4942 0.4867 1 T 1.000 N -0.928 T 0.0 T 0.0 T Pathogenic 7_100552371_C->G 7 100552371 100552371 C G snp 2846.77 0/1 99 250 143 107 0.43 exonic rs73714255 MUC3A AU nonsynonymous SNV NM_005960 exon2 c.C2952G p.I984M 0.4941 0.4863 0.13 T 0.711 N -0.937 T 0.0 T 0.0 T Pathogenic 7_100552384_A->G 7 100552384 100552384 A G snp 2829.77 0/1 99 250 143 107 0.43 exonic rs75597914 MUC3A AU nonsynonymous SNV NM_005960 exon2 c.A2965G p.T989A 0.4954 0.4873 0.58 T 0.723 N -0.928 T 0.0 T 0.0 T Pathogenic 7_100552390_T->C 7 100552390 100552390 T C snp 2752.77 0/1 99 250 142 108 0.43 exonic rs73714257 MUC3A AU nonsynonymous SNV NM_005960 exon2 c.T2971C p.Y991H 0.4954 0.4876 0.61 T -0.889 T 0.0 T 0.0 T Pathogenic 7_100552412_T->C 7 100552412 100552412 T C snp 2816.77 0/1 99 250 139 111 0.44 exonic rs73714259 MUC3A AU nonsynonymous SNV NM_005960 exon2 c.T2993C p.M998T 0.4958 0.4886 1 T 0.711 N -0.909 T 0.0 T 0.0 T Pathogenic 7_100552435_T->A 7 100552435 100552435 T A snp 2618.77 0/1 99 241 141 100 0.41 exonic rs76244845 MUC3A AU nonsynonymous SNV NM_005960 exon2 c.T3016A p.S1006T 0.4967 0.4893 0.6 T 0.723 N -0.917 T 0.003 T 0.002 T Pathogenic 7_100552436_C->T 7 100552436 100552436 C T snp 2607.77 0/1 99 241 141 100 0.41 exonic rs78685360 MUC3A AU nonsynonymous SNV NM_005960 exon2 c.C3017T p.S1006L 0.4967 0.4893 0.7 T 0.711 N -0.896 T 0.047 T 0.007 T Pathogenic 7_100552440_C->T 7 100552440 100552440 C T snp 2864.77 0/1 99 250 143 107 0.43 exonic rs80290400 MUC3A AU synonymous SNV NM_005960 exon2 c.C3021T p.P1007P 0.4969 0.4898 Uncertain 7_100552452_T->C 7 100552452 100552452 T C snp 1209.77 0/1 99 250 194 56 0.22 exonic rs112050489 MUC3A AU synonymous SNV NM_005960 exon2 c.T3033C p.S1011S 0.010638 0.0634 0.0286 Uncertain 7_100552535_G->A 7 100552535 100552535 G A snp 2724.77 0/1 99 249 150 99 0.4 exonic rs73163758 MUC3A AU nonsynonymous SNV NM_005960 exon2 c.G3116A p.S1039N 0.4995 0.4998 0.73 T 0.723 N -0.916 T 0.019 T 0.007 T Pathogenic 7_100552536_T->C 7 100552536 100552536 T C snp 2925.77 0/1 99 250 150 100 0.4 exonic rs73163759 MUC3A AU synonymous SNV NM_005960 exon2 c.T3117C p.S1039S 0.153355 0.0149 0.5073 0.4999 Uncertain 7_100552549_C->A 7 100552549 100552549 C A snp 2950.77 0/1 99 250 147 103 0.41 exonic rs73163760 MUC3A AU nonsynonymous SNV NM_005960 exon2 c.C3130A p.L1044I 0.4938 0.4999 0.21 T 0.723 N -0.984 T 0.001 T 0.0 T Pathogenic 7_100552550_T->C 7 100552550 100552550 T C snp 3034.77 0/1 99 250 145 105 0.42 exonic rs73163762 MUC3A AU nonsynonymous SNV NM_005960 exon2 c.T3131C p.L1044P 0.153355 0.0149 0.5070 0.5 0.56 T 1.000 P -0.942 T 0.0 T 0.0 T Pathogenic 7_100552644_C->A 7 100552644 100552644 C A snp 2169.77 0/1 99 250 163 87 0.35 exonic rs2904850 MUC3A AU synonymous SNV NM_005960 exon2 c.C3225A p.P1075P 0.179513 0.3095 0.5169 0.5435 Uncertain 7_100552657_A->G 7 100552657 100552657 A G snp 1956.77 0/1 99 250 177 73 0.29 exonic rs75471530 MUC3A AU nonsynonymous SNV NM_005960 exon2 c.A3238G p.T1080A 0.4969 0.4967 0.26 T 0.635 N -0.990 T 0.008 T 0.001 T Pathogenic 7_100552659_T->C 7 100552659 100552659 T C snp 2069.77 0/1 99 250 178 72 0.29 exonic rs78182596 MUC3A AU synonymous SNV NM_005960 exon2 c.T3240C p.T1080T 0.4969 0.4972 Uncertain 7_100552675_C->T 7 100552675 100552675 C T snp 2394.77 0/1 99 250 164 86 0.34 exonic rs73163764 MUC3A AU nonsynonymous SNV NM_005960 exon2 c.C3256T p.P1086S 0.4924 0.4943 0.98 T 1.000 N -0.945 T 0.328 T 0.04 T Pathogenic 7_100552711_T->A 7 100552711 100552711 T A snp 2076.77 0/1 99 248 163 85 0.34 exonic rs75799835 MUC3A AU nonsynonymous SNV NM_005960 exon2 c.T3292A p.S1098T 0.4466 0.4157 0.35 T 0.723 P -0.943 T 0.174 T 0.112 T Pathogenic 7_100552713_A->G 7 100552713 100552713 A G snp 2339.77 0/1 99 249 168 81 0.33 exonic rs75130157 MUC3A AU synonymous SNV NM_005960 exon2 c.A3294G p.S1098S 0.4454 0.4149 Uncertain 7_100552727_G->C 7 100552727 100552727 G C snp 2579.77 0/1 99 250 161 89 0.36 exonic rs74529310 MUC3A AU nonsynonymous SNV NM_005960 exon2 c.G3308C p.R1103P 0.4852 0.4900 0.31 T 0.729 N -0.938 T 0.0 T 0.0 T Pathogenic 7_100552738_C->T 7 100552738 100552738 C T snp 2316.77 0/1 99 248 164 84 0.34 exonic rs79874934 MUC3A AU stopgain NM_005960 exon2 c.C3319T p.Q1107X 0.4877 0.4920 0.94 T 1.000 A Pathogenic 7_100552739_A->G 7 100552739 100552739 A G snp 2370.77 0/1 99 249 164 85 0.34 exonic rs75517157 MUC3A AU nonsynonymous SNV NM_005960 exon2 c.A3320G p.Q1107R 0.4882 0.4922 0.6 T 1.000 N -0.980 T 0.898 T 0.19 P Pathogenic 7_100552763_C->T 7 100552763 100552763 C T snp 967.77 0/1 99 250 206 44 0.18 exonic rs771149306 MUC3A AU nonsynonymous SNV NM_005960 exon2 c.C3344T p.T1115I 0.0016 0.0112 0.14 T 1.000 N -1.027 T 0.997 D 0.987 D Pathogenic 7_100552788_C->T 7 100552788 100552788 C T snp 2751.77 0/1 99 250 156 94 0.38 intronic rs73398800 MUC3A AU NM_005960 exon2 c.5518+14C>T 0.0113818 0.4984 0.4996 Uncertain 7_100552837_G->A 7 100552837 100552837 G A snp 3146.77 0/1 99 250 136 114 0.46 intronic rs73714264 MUC3A AU NM_005960 exon3 c.5624-43G>A 0.4996 0.5 Uncertain 7_100552854_G->A 7 100552854 100552854 G A snp 3430.77 0/1 99 250 130 120 0.48 intronic rs73714265 MUC3A AU NM_005960 exon3 c.5624-26G>A 0.4998 0.5 Uncertain 7_100552867_T->C 7 100552867 100552867 T C snp 3598.77 0/1 99 250 131 119 0.48 intronic rs73714266 MUC3A AU NM_005960 exon3 c.5624-13T>C 0.153554 0.0149 0.5075 0.5001 Uncertain 7_100552915_A->C 7 100552915 100552915 A C snp 8572.77 1/1 99 248 0 248 1.0 exonic rs2904852 MUC3A AU synonymous SNV NM_005960 exon3 c.A3390C p.G1130G 0.958267 0.999 0.929020 0.9331 0.9996 Uncertain 7_100552978_T->C 7 100552978 100552978 T C snp 2977.77 0/1 99 250 145 105 0.42 exonic rs73163765 MUC3A AU synonymous SNV NM_005960 exon3 c.T3453C p.N1151N 0.4990 0.5 Uncertain 7_100552984_T->C 7 100552984 100552984 T C snp 2732.77 0/1 99 249 146 103 0.41 exonic rs73163766 MUC3A AU synonymous SNV NM_005960 exon3 c.T3459C p.G1153G 0.4986 0.5 Uncertain 7_100553002_A->G 7 100553002 100553002 A G snp 2631.77 0/1 99 250 155 95 0.38 exonic rs68094465 MUC3A AU synonymous SNV NM_005960 exon3 c.A3477G p.K1159K 0.4999 0.5 Uncertain 7_100553073_T->A 7 100553073 100553073 T A snp 2255.77 0/1 99 245 158 87 0.36 intronic rs73714269 MUC3A AU NM_005960 exon3 c.5810+7T>A 0.4999 0.5 Uncertain 7_100553077_A->C 7 100553077 100553077 A C snp 2087.77 0/1 99 244 160 84 0.34 intronic rs73714270 MUC3A AU NM_005960 exon3 c.5810+11A>C 0.4999 0.5 Uncertain 7_100553117_G->A 7 100553117 100553117 G A snp 1672.77 0/1 99 212 138 74 0.35 intronic rs73400705 MUC3A AU NM_005960 exon3 c.5810+51G>A Uncertain 7_100553210_G->A 7 100553210 100553210 G A snp 154.77 0/1 99 20 14 6 0.3 intronic rs10256487 MUC3A AU NM_005960 exon3 c.5810+144G>A 0.00139776 Uncertain 7_100553230_T->C 7 100553230 100553230 T C snp 37.77 0/1 66 6 4 2 0.33 intronic rs755279708 MUC3A AU NM_005960 exon3 c.5810+164T>C Uncertain 7_100553234_C->T 7 100553234 100553234 C T snp 117.03 1/1 12 4 0 4 1.0 intronic rs10256374 MUC3A AU NM_005960 exon3 c.5810+168C>T Uncertain 7_100555116_-->TT 7 100555116 100555116 - TT indel 332.73 1/1 30 27 0 27 1.0 intronic rs587647787 MUC3A AU NM_005960 exon3 c.5810+2050insTT Uncertain 7_100606918_A->G 7 100606918 100606918 A G snp 1076.77 1/1 81 36 0 36 1.0 intronic rs4316092 MUC3A AU NM_005960 exon5 c.59546+116A>G 0.725639 0.6121 Uncertain 7_100607642_C->T 7 100607642 100607642 C T snp 1851.77 0/1 99 81 18 63 0.78 intronic rs4989164 MUC3A AU NM_005960 exon6 c.60489-103C>T 0.509185 0.499 Uncertain 7_100607644_T->- 7 100607644 100607644 T - indel 1635.73 0/1 99 81 18 63 0.78 intronic rs5886153 MUC3A AU NM_005960 exon6 c.60489-101delT 0.509185 0.499 Uncertain 7_100607646_T->C 7 100607646 100607646 T C snp 2053.77 0/1 99 86 18 68 0.79 intronic rs4989163 MUC3A AU NM_005960 exon6 c.60489-99T>C 0.509185 0.499 Uncertain 7_100607703_A->G 7 100607703 100607703 A G snp 2424.77 0/1 99 213 110 103 0.48 intronic rs4992769 MUC3A AU NM_005960 exon6 c.60489-42A>G 2.977e-05 0 Uncertain 7_100607706_T->C 7 100607706 100607706 T C snp 2340.77 0/1 99 212 113 99 0.47 intronic rs4992768 MUC3A AU NM_005960 exon6 c.60489-39T>C Uncertain 7_100607707_T->C 7 100607707 100607707 T C snp 2354.77 0/1 99 212 111 101 0.48 intronic rs4992767 MUC3A AU NM_005960 exon6 c.60489-38T>C 9.041e-06 0 Uncertain 7_100607709_C->T 7 100607709 100607709 C T snp 2456.77 0/1 99 213 111 102 0.48 intronic rs4992766 MUC3A AU NM_005960 exon6 c.60489-36C>T 9.035e-06 0 Uncertain 7_100607851_C->G 7 100607851 100607851 C G snp 3325.77 0/1 99 163 31 132 0.81 exonic rs6960854 MUC3A AU synonymous SNV NM_005960 exon6 c.C3828G p.L1276L 0.5069 0.5023 Uncertain 7_100607871_C->T 7 100607871 100607871 C T snp 2592.77 0/1 99 130 26 104 0.8 exonic rs6960868 MUC3A AU nonsynonymous SNV NM_005960 exon6 c.C3848T p.A1283V 0.4855 0.3741 0.33 T -1.082 T 0.469 P 0.115 P Pathogenic 7_100607903_G->A 7 100607903 100607903 G A snp 695.77 0/1 99 81 51 30 0.37 intronic rs6961167 MUC3A AU NM_005960 exon6 c.60638+9G>A 0.4742 0.4858 Uncertain 7_100607973_A->G 7 100607973 100607973 A G snp 543.77 0/1 99 19 4 15 0.79 intronic rs6960893 MUC3A AU NM_005960 exon6 c.60638+79A>G Uncertain 7_100608154_G->A 7 100608154 100608154 G A snp 592.77 1/1 45 16 0 16 1.0 intronic rs10250885 MUC3A AU NM_005960 exon7 c.61050-152G>A 0.700479 0.6062 Uncertain 7_100608247_T->C 7 100608247 100608247 T C snp 1377.77 0/1 99 169 108 61 0.36 intronic rs73163788 MUC3A AU NM_005960 exon7 c.61050-59T>C Uncertain 7_100608255_C->G 7 100608255 100608255 C G snp 1339.77 0/1 99 183 122 61 0.33 intronic rs79638688 MUC3A AU NM_005960 exon7 c.61050-51C>G Uncertain 7_100608264_T->A 7 100608264 100608264 T A snp 1501.77 0/1 99 191 122 69 0.36 intronic rs73163789 MUC3A AU NM_005960 exon7 c.61050-42T>A 0.152157 0.0456 0.1546 0.0425 Uncertain 7_100608268_-->CTTAACCCCTTGAT 7 100608268 100608268 - CTTAACCCCTTGAT indel 9853.73 0/1 99 199 134 65 0.33 intronic rs141757611 MUC3A AU NM_005960 exon7 c.61050-38insCTTAACCCCTTGAT 0.4751 0.4699 Uncertain 7_100608370_A->C 7 100608370 100608370 A C snp 2973.77 0/1 99 247 135 112 0.45 splicing rs73714276 MUC3A AU NM_005960 exon7 c.61113+1A>C 0.5007 0.4999 0.32 T 0.974 N -1.058 T 0.675 T 0.294 P Pathogenic 7_100608375_G->A 7 100608375 100608375 G A snp 2963.77 0/1 99 247 136 111 0.45 splicing rs751650250 MUC3A AU NM_005960 exon7 c.61113+6G>A 0.4997 0.4989 Pathogenic 7_100608406_A->G 7 100608406 100608406 A G snp 2044.77 0/1 99 193 117 76 0.39 intronic rs766431654 MUC3A AU NM_005960 exon7 c.61113+37A>G 0.4919 0.4895 Uncertain 7_100608407_T->C 7 100608407 100608407 T C snp 2048.77 0/1 99 193 117 76 0.39 intronic rs780105342 MUC3A AU NM_005960 exon7 c.61113+38T>C 0.4903 0.4870 Uncertain 7_100608411_C->T 7 100608411 100608411 C T snp 1976.77 0/1 99 191 115 76 0.4 intronic rs758455905 MUC3A AU NM_005960 exon7 c.61113+42C>T 0.4902 0.4874 Uncertain 7_100608416_C->T 7 100608416 100608416 C T snp 1967.77 0/1 99 187 111 76 0.41 intronic rs768519175 MUC3A AU NM_005960 exon7 c.61113+47C>T 0.000399361 0.4906 0.4879 Uncertain 7_100608419_C->G 7 100608419 100608419 C G snp 2078.77 0/1 99 186 109 77 0.41 intronic rs778880886 MUC3A AU NM_005960 exon7 c.61113+50C>G 0.4905 0.4866 Uncertain 7_100608420_T->G 7 100608420 100608420 T G snp 2036.77 0/1 99 185 109 76 0.41 intronic rs756792444 MUC3A AU NM_005960 exon7 c.61113+51T>G 0.4899 0.4847 Uncertain 7_100608423_C->T 7 100608423 100608423 C T snp 2076.77 0/1 99 184 108 76 0.41 intronic rs771768944 MUC3A AU NM_005960 exon7 c.61113+54C>T Uncertain 7_100608472_C->G 7 100608472 100608472 C G snp 3310.77 1/1 99 98 0 98 1.0 intronic rs10251045 MUC3A AU NM_005960 exon7 c.61113+103C>G 0.729433 0.6002 Uncertain 7_100608493_T->C 7 100608493 100608493 T C snp 641.77 0/1 99 59 36 23 0.39 intronic rs760202267 MUC3A AU NM_005960 exon7 c.61113+124T>C 0.00139776 Uncertain 7_100608498_A->C 7 100608498 100608498 A C snp 614.77 0/1 99 52 31 21 0.4 intronic rs770478090 MUC3A AU NM_005960 exon7 c.61113+129A>C 0.00139776 Uncertain 7_100608502_T->C 7 100608502 100608502 T C snp 519.77 0/1 99 48 28 20 0.42 intronic rs749747089 MUC3A AU NM_005960 exon7 c.61113+133T>C 0.00139776 Uncertain 7_100608513_T->C 7 100608513 100608513 T C snp 228.77 0/1 99 28 17 11 0.39 intronic rs75755807 MUC3A AU NM_005960 exon7 c.61113+144T>C 0.000798722 Uncertain 7_100608572_G->C 7 100608572 100608572 G C snp 389.77 0/1 99 29 16 13 0.45 intronic rs10251414 MUC3A AU NM_005960 exon8 c.61469-153G>C 0.000199681 Uncertain 7_100608573_G->C 7 100608573 100608573 G C snp 318.77 0/1 99 29 18 11 0.38 intronic rs10251415 MUC3A AU NM_005960 exon8 c.61469-152G>C 0.400559 0.5536 Uncertain 7_100608710_A->C 7 100608710 100608710 A C snp 4361.77 0/1 99 247 71 176 0.71 intronic rs62483706 MUC3A AU NM_005960 exon8 c.61469-15A>C 0.0357428 0.0823 0.5007 0.5055 Uncertain 7_100608778_T->C 7 100608778 100608778 T C snp 2374.77 0/1 99 249 148 101 0.41 exonic rs73163792 MUC3A AU synonymous SNV NM_005960 exon8 c.T3987C p.P1329P 0.000798722 0.5001 0.5 Uncertain 7_100608779_C->T 7 100608779 100608779 C T snp 2350.77 0/1 99 245 144 101 0.41 exonic rs73163793 MUC3A AU synonymous SNV NM_005960 exon8 c.C3988T p.L1330L 0.000998403 0.5001 0.5 CLINSIG=untested;CLNDBN=Malignant_melanoma;CLNREVSTAT=no_assertion_provided;CLNACC=RCV000067537.1;CLNDSDB=MedGen:SNOMED_CT;CLNDSDBID=C0025202:2092003 Uncertain 7_100608823_G->T 7 100608823 100608823 G T snp 1004.77 0/1 99 250 197 53 0.21 exonic rs35790618 MUC3A AU synonymous SNV NM_005960 exon8 c.G4032T p.S1344S 0.000199681 0.3293 0.3212 Uncertain 7_100608826_C->G 7 100608826 100608826 C G snp 2512.77 0/1 99 248 140 108 0.44 exonic rs73163794 MUC3A AU synonymous SNV NM_005960 exon8 c.C4035G p.G1345G 0.4999 0.5 Uncertain 7_100608868_A->G 7 100608868 100608868 A G snp 2456.77 0/1 99 230 118 112 0.49 exonic rs67377634 MUC3A AU synonymous SNV NM_005960 exon8 c.A4077G p.L1359L 0.4994 0.4993 Uncertain 7_100608884_G->A 7 100608884 100608884 G A snp 2085.77 0/1 99 191 97 94 0.49 exonic rs73163797 MUC3A AU nonsynonymous SNV NM_005960 exon8 c.G4093A p.A1365T 0.000199681 0.001 0.4981 0.4969 0.76 T 1.000 N -1.014 T 0.279 T 0.015 T Pathogenic 7_100608912_A->G 7 100608912 100608912 A G snp 1616.77 0/1 99 116 54 62 0.53 intronic rs73163798 MUC3A AU NM_005960 exon8 c.61635+21A>G 0.4672 0.4768 Uncertain 7_100608920_T->C 7 100608920 100608920 T C snp 1545.77 0/1 99 106 49 57 0.54 intronic rs2904863 MUC3A AU NM_005960 exon8 c.61635+29T>C 0.3863 0.3073 Uncertain 7_100608929_G->T 7 100608929 100608929 G T snp 1183.77 0/1 99 94 46 48 0.51 intronic rs766752905 MUC3A AU NM_005960 exon8 c.61635+38G>T 0.000399361 0.001 0.4747 0.4659 Uncertain 7_100608953_T->C 7 100608953 100608953 T C snp 288.77 0/1 99 42 31 11 0.26 intronic rs78404383 MUC3A AU NM_005960 exon8 c.61635+62T>C Uncertain 7_100608954_A->T 7 100608954 100608954 A T snp 281.77 0/1 99 41 30 11 0.27 intronic rs74985629 MUC3A AU NM_005960 exon8 c.61635+63A>T Uncertain 7_100608958_T->C 7 100608958 100608958 T C snp 306.77 0/1 99 37 26 11 0.3 intronic rs76888130 MUC3A AU NM_005960 exon8 c.61635+67T>C Uncertain 7_100608961_C->T 7 100608961 100608961 C T snp 297.77 0/1 99 34 23 11 0.32 intronic rs74773493 MUC3A AU NM_005960 exon8 c.61635+70C>T Uncertain 7_100608964_G->T 7 100608964 100608964 G T snp 308.77 0/1 99 31 20 11 0.35 intronic rs77850164 MUC3A AU NM_005960 exon8 c.61635+73G>T Uncertain 7_100608977_T->C 7 100608977 100608977 T C snp 320.77 0/1 99 26 16 10 0.38 intronic rs77229894 MUC3A AU NM_005960 exon8 c.61635+86T>C Uncertain 7_100608980_C->G 7 100608980 100608980 C G snp 252.77 0/1 99 20 12 8 0.4 intronic rs77610977 MUC3A AU NM_005960 exon8 c.61635+89C>G Uncertain 7_100608984_A->T 7 100608984 100608984 A T snp 221.77 0/1 99 17 10 7 0.41 intronic rs75372199 MUC3A AU NM_005960 exon8 c.61635+93A>T Uncertain 7_100608987_C->G 7 100608987 100608987 C G snp 211.77 0/1 99 17 10 7 0.41 intronic rs79104385 MUC3A AU NM_005960 exon8 c.61635+96C>G Uncertain 7_100609422_C->- 7 100609422 100609422 C - indel 182.73 0/1 41 10 2 8 0.8 intronic rs74203458 MUC3A AU NM_005960 exon9 c.62282-116delC Uncertain 7_100609486_C->G 7 100609486 100609486 C G snp 987.77 0/1 99 64 22 42 0.66 intronic rs62483707 MUC3A AU NM_005960 exon9 c.62282-52C>G Uncertain 7_100609556_C->T 7 100609556 100609556 C T snp 324.77 0/1 99 120 98 22 0.18 exonic rs767693236 MUC3A AU nonsynonymous SNV NM_005960 exon9 c.C4118T p.T1373M 0.0002 0.0019 0.01 T 0.723 N -0.566 T 1.0 D 0.985 D Pathogenic 7_100609966_T->C 7 100609966 100609966 T C snp 2344.77 0/1 99 200 115 85 0.42 intronic rs10274451 MUC3A AU NM_005960 exon10 c.62640+70T>C Uncertain 7_100609987_T->C 7 100609987 100609987 T C snp 2102.77 0/1 99 176 98 78 0.44 intronic rs10274460 MUC3A AU NM_005960 exon11 c.62795-64T>C Uncertain 7_100610026_A->C 7 100610026 100610026 A C snp 1435.77 0/1 99 141 83 58 0.41 intronic rs10229209 MUC3A AU NM_005960 exon11 c.62795-25A>C 0.519881 0.5356 0.5658 Uncertain 7_100610069_C->T 7 100610069 100610069 C T snp 1297.77 0/1 99 126 69 57 0.45 exonic rs10258821 MUC3A AU nonsynonymous SNV NM_005960 exon11 c.C4384T p.H1462Y 0.4725 0.3919 1 T 1.000 N -0.931 T 0.035 T 0.048 T Pathogenic 7_100612767_TGTCCAGGCACTT->- 7 100612767 100612779 TGTCCAGGCACTT - indel 2545.73 0/1 99 46 27 19 0.41 upstream rs371103052 MUC12 AU Uncertain 7_100612786_G->T 7 100612786 100612786 G T snp 628.77 0/1 99 66 40 26 0.39 upstream rs73168325 MUC12 AU Uncertain 7_100612839_A->G 7 100612839 100612839 A G snp 899.77 0/1 99 100 61 39 0.39 upstream rs76449674 MUC12 AU Uncertain 7_100612842_T->C 7 100612842 100612842 T C snp 828.77 0/1 99 100 61 39 0.39 upstream rs79514982 MUC12 AU Uncertain 7_100612865_C->T 7 100612865 100612865 C T snp 1009.77 0/1 99 121 75 46 0.38 upstream rs78097765 MUC12 AU 0.3024 0.2391 Uncertain 7_100612869_G->A 7 100612869 100612869 G A snp 991.77 0/1 99 126 79 47 0.37 upstream rs74554402 MUC12 AU 0.2941 0.2308 Uncertain 7_100612875_C->T 7 100612875 100612875 C T snp 1029.77 0/1 99 130 82 48 0.37 upstream rs75162633 MUC12 AU 0.3181 0.2295 Uncertain 7_100612898_T->C 7 100612898 100612898 T C snp 1151.77 0/1 99 137 85 52 0.38 upstream rs73168327 MUC12 AU 0.3655 0.2669 Uncertain 7_100612945_C->T 7 100612945 100612945 C T snp 1011.77 0/1 99 129 83 46 0.36 exonic rs76619309 MUC12 AU synonymous SNV NM_001164462 exon1 c.C42T p.C14C 0.2534 0.1144 Uncertain 7_100612952_G->A 7 100612952 100612952 G A snp 1006.77 0/1 99 133 87 46 0.35 exonic rs79881008 MUC12 AU nonsynonymous SNV NM_001164462 exon1 c.G49A p.V17I 0.2106 0.0925 0 D 1 N -0.976 T Pathogenic 7_100612955_-->CTG 7 100612955 100612955 - CTG indel 2211.73 0/1 99 132 86 46 0.35 exonic rs150485202 MUC12 AU nonframeshift insertion NM_001164462 exon1 c.52_53insCTG p.T18delinsTA 0.1831 0.0854 ID=COSM1083212;OCCURENCE=3(breast),1(endometrium),1(lung) Uncertain 7_100612961_G->C 7 100612961 100612961 G C snp 1002.77 0/1 99 127 85 42 0.33 exonic rs78487486 MUC12 AU nonsynonymous SNV NM_001164462 exon1 c.G58C p.V20L 0.1861 0.0877 0 D 1 N -1.006 T Pathogenic 7_100612969_A->G 7 100612969 100612969 A G snp 914.77 0/1 99 126 86 40 0.32 exonic rs73168328 MUC12 AU synonymous SNV NM_001164462 exon1 c.A66G p.P22P 0.1832 0.0865 Uncertain 7_100612996_A->G 7 100612996 100612996 A G snp 815.77 0/1 99 112 77 35 0.31 intronic rs76589634 MUC12 AU NM_001164462 exon1 c.67+26A>G 0.0777 0.0034 Uncertain 7_100613010_T->C 7 100613010 100613010 T C snp 689.77 0/1 99 99 67 32 0.32 intronic rs80354726 MUC12 AU NM_001164462 exon1 c.67+40T>C 0.0995 0.0208 Uncertain 7_100613011_G->A 7 100613011 100613011 G A snp 679.77 0/1 99 97 67 30 0.31 intronic rs79331440 MUC12 AU NM_001164462 exon1 c.67+41G>A 0.0988 0.0211 Uncertain 7_100613018_A->C 7 100613018 100613018 A C snp 733.77 0/1 99 90 57 33 0.37 intronic rs78041688 MUC12 AU NM_001164462 exon1 c.67+48A>C 0.1007 0.0214 Uncertain 7_100613027_T->C 7 100613027 100613027 T C snp 673.77 0/1 99 84 53 31 0.37 intronic rs73168330 MUC12 AU NM_001164462 exon1 c.67+57T>C 0.000199681 0.001 Uncertain 7_100613060_CCT->- 7 100613060 100613062 CCT - indel 831.73 0/1 99 63 38 25 0.4 intronic rs66842488 MUC12 AU NM_001164462 exon1 c.67+90_67+92delCCT Uncertain 7_100613107_G->A 7 100613107 100613107 G A snp 131.77 0/1 99 22 14 8 0.36 intronic rs73168333 MUC12 AU NM_001164462 exon1 c.67+137G>A Uncertain 7_100613112_G->C 7 100613112 100613112 G C snp 176.77 0/1 99 20 12 8 0.4 intronic rs75250895 MUC12 AU NM_001164462 exon1 c.67+142G>C Uncertain 7_100613127_T->C 7 100613127 100613127 T C snp 110.77 0/1 99 13 7 6 0.46 intronic rs73168334 MUC12 AU NM_001164462 exon1 c.67+157T>C 0.000199681 Uncertain 7_100613131_G->A 7 100613131 100613131 G A snp 148.77 0/1 99 13 7 6 0.46 intronic rs200901128 MUC12 AU NM_001164462 exon1 c.67+161G>A Uncertain 7_100613138_T->C 7 100613138 100613138 T C snp 102.77 0/1 99 9 4 5 0.56 intronic rs36137645 MUC12 AU NM_001164462 exon1 c.67+168T>C Uncertain 7_100613143_A->G 7 100613143 100613143 A G snp 80.77 0/1 99 7 3 4 0.57 intronic rs36188733 MUC12 AU NM_001164462 exon1 c.67+173A>G Uncertain 7_100615281_A->G 7 100615281 100615281 A G snp 121.77 0/1 99 10 5 5 0.5 intronic rs73400789 MUC12 AU NM_001164462 exon1 c.67+2311A>G 0.495607 0.497 Uncertain 7_100615311_A->G 7 100615311 100615311 A G snp 157.77 0/1 99 17 8 9 0.53 intronic rs79784813 MUC12 AU NM_001164462 exon1 c.67+2341A>G Uncertain 7_100615313_G->A 7 100615313 100615313 G A snp 194.77 0/1 99 17 8 9 0.53 intronic rs79548447 MUC12 AU NM_001164462 exon1 c.67+2343G>A Uncertain 7_100615321_G->A 7 100615321 100615321 G A snp 236.77 0/1 99 19 8 11 0.58 intronic rs75376427 MUC12 AU NM_001164462 exon1 c.67+2351G>A Uncertain 7_100615353_C->T 7 100615353 100615353 C T snp 256.77 0/1 99 31 19 12 0.39 intronic rs73168339 MUC12 AU NM_001164462 exon1 c.67+2383C>T 0.4966 0.4951 Uncertain 7_100615359_A->G 7 100615359 100615359 A G snp 244.77 0/1 99 34 22 12 0.35 intronic rs73168341 MUC12 AU NM_001164462 exon1 c.67+2389A>G 0.4966 0.4951 Uncertain 7_100615378_C->- 7 100615378 100615378 C - indel 407.73 0/1 99 39 24 15 0.38 intronic rs33957279 MUC12 AU NM_001164462 exon1 c.67+2408delC 0.4971 0.4949 Uncertain 7_100615387_C->T 7 100615387 100615387 C T snp 278.77 0/1 99 42 26 16 0.38 intronic rs75466554 MUC12 AU NM_001164462 exon1 c.67+2417C>T 0.4975 0.4949 Uncertain 7_100615445_A->G 7 100615445 100615445 A G snp 220.77 0/1 99 48 37 11 0.23 intronic rs5021607 MUC12 AU NM_001164462 exon1 c.67+2475A>G 0.4742 0.4805 Uncertain 7_100615449_C->G 7 100615449 100615449 C G snp 181.77 0/1 99 47 37 10 0.21 intronic rs5021606 MUC12 AU NM_001164462 exon1 c.67+2479C>G 0.4646 0.4512 Uncertain 7_100615453_T->C 7 100615453 100615453 T C snp 184.77 0/1 99 46 36 10 0.22 intronic rs5021605 MUC12 AU NM_001164462 exon1 c.67+2483T>C 0.4584 0.4458 Uncertain 7_100615454_G->C 7 100615454 100615454 G C snp 182.77 0/1 99 46 36 10 0.22 intronic rs5021604 MUC12 AU NM_001164462 exon1 c.67+2484G>C 0.4588 0.4512 Uncertain 7_100615458_A->C 7 100615458 100615458 A C snp 185.77 0/1 99 46 36 10 0.22 intronic rs5021603 MUC12 AU NM_001164462 exon1 c.67+2488A>C 0.4504 0.4353 Uncertain 7_100615460_A->G 7 100615460 100615460 A G snp 177.77 0/1 99 46 36 10 0.22 intronic rs5021602 MUC12 AU NM_001164462 exon1 c.67+2490A>G 0.4540 0.4405 Uncertain 7_100615461_T->A 7 100615461 100615461 T A snp 185.77 0/1 99 46 36 10 0.22 intronic rs5021601 MUC12 AU NM_001164462 exon1 c.67+2491T>A 0.4511 0.4353 Uncertain 7_100615477_G->A 7 100615477 100615477 G A snp 179.77 0/1 99 51 40 11 0.22 intronic rs5021600 MUC12 AU NM_001164462 exon1 c.67+2507G>A 0.3411 0.3516 Uncertain 7_100615500_A->G 7 100615500 100615500 A G snp 130.77 0/1 99 39 31 8 0.21 intronic rs77817912 MUC12 AU NM_001164462 exon1 c.67+2530A>G Uncertain 7_100615521_T->C 7 100615521 100615521 T C snp 190.77 0/1 99 37 28 9 0.24 intronic rs79951460 MUC12 AU NM_001164462 exon1 c.67+2551T>C Uncertain 7_100615525_C->T 7 100615525 100615525 C T snp 154.77 0/1 99 35 27 8 0.23 intronic rs76946448 MUC12 AU NM_001164462 exon1 c.67+2555C>T Uncertain 7_100615531_T->G 7 100615531 100615531 T G snp 160.77 0/1 99 34 26 8 0.24 intronic rs79277318 MUC12 AU NM_001164462 exon1 c.67+2561T>G Uncertain 7_100615533_C->A 7 100615533 100615533 C A snp 154.77 0/1 99 34 26 8 0.24 intronic rs75698243 MUC12 AU NM_001164462 exon1 c.67+2563C>A Uncertain 7_100615570_T->G 7 100615570 100615570 T G snp 53.77 0/1 82 18 15 3 0.17 intronic rs73168342 MUC12 AU NM_001164462 exon1 c.67+2600T>G Uncertain 7_100615625_C->T 7 100615625 100615625 C T snp 38.77 0/1 67 5 3 2 0.4 intronic rs76422948 MUC12 AU NM_001164462 exon1 c.67+2655C>T Uncertain 7_100615631_T->C 7 100615631 100615631 T C snp 40.77 0/1 69 5 3 2 0.4 intronic rs77947559 MUC12 AU NM_001164462 exon1 c.67+2661T>C Uncertain 7_100615636_T->C 7 100615636 100615636 T C snp 40.77 0/1 69 5 3 2 0.4 intronic rs78837224 MUC12 AU NM_001164462 exon1 c.67+2666T>C Uncertain 7_100615637_T->C 7 100615637 100615637 T C snp 40.77 0/1 69 5 3 2 0.4 intronic rs78298396 MUC12 AU NM_001164462 exon1 c.67+2667T>C Uncertain 7_100615639_C->T 7 100615639 100615639 C T snp 38.77 0/1 67 5 3 2 0.4 intronic rs80355675 MUC12 AU NM_001164462 exon1 c.67+2669C>T Uncertain 7_100616181_C->A 7 100616181 100616181 C A snp 91.77 0/1 99 33 26 7 0.21 intronic rs76074645 MUC12 AU NM_001164462 exon1 c.67+3211C>A Uncertain 7_100616185_C->T 7 100616185 100616185 C T snp 88.77 0/1 99 33 26 7 0.21 intronic rs79851456 MUC12 AU NM_001164462 exon1 c.67+3215C>T 0 D 1 N Uncertain 7_100616186_A->G 7 100616186 100616186 A G snp 87.77 0/1 99 34 27 7 0.21 intronic rs77804689 MUC12 AU NM_001164462 exon1 c.67+3216A>G 0 D 1 N -0.986 T Uncertain 7_100616195_G->C 7 100616195 100616195 G C snp 81.77 0/1 99 36 29 7 0.19 intronic rs77180957 MUC12 AU NM_001164462 exon1 c.67+3225G>C 0 D 1 N -1.000 T Uncertain 7_100616196_C->T 7 100616196 100616196 C T snp 81.77 0/1 99 36 29 7 0.19 intronic rs77369062 MUC12 AU NM_001164462 exon1 c.67+3226C>T Uncertain 7_100616199_T->C 7 100616199 100616199 T C snp 109.77 0/1 99 37 29 8 0.22 intronic rs78022349 MUC12 AU NM_001164462 exon1 c.67+3229T>C Uncertain 7_100616227_A->T 7 100616227 100616227 A T snp 114.77 0/1 99 46 36 10 0.22 intronic rs75588135 MUC12 AU NM_001164462 exon1 c.67+3257A>T 0 D 1 N -0.995 T Uncertain 7_100616229_G->C 7 100616229 100616229 G C snp 114.77 0/1 99 46 36 10 0.22 intronic rs78091742 MUC12 AU NM_001164462 exon1 c.67+3259G>C 0 D 1 N -0.983 T Uncertain 7_100616245_C->A 7 100616245 100616245 C A snp 123.77 0/1 99 45 35 10 0.22 intronic rs79948354 MUC12 AU NM_001164462 exon1 c.67+3275C>A Uncertain 7_100616258_C->T 7 100616258 100616258 C T snp 126.77 0/1 99 41 31 10 0.24 intronic rs73168346 MUC12 AU NM_001164462 exon1 c.67+3288C>T 0 D 1 N -1.004 T Uncertain 7_100616277_A->G 7 100616277 100616277 A G snp 151.77 0/1 99 39 31 8 0.21 intronic rs117288840 MUC12 AU NM_001164462 exon1 c.67+3307A>G Uncertain 7_100616279_C->G 7 100616279 100616279 C G snp 161.77 0/1 99 38 30 8 0.21 intronic MUC12 AU NM_001164462 exon1 c.67+3309C>G 0 D 1 N -0.983 T Uncertain 7_100616288_G->T 7 100616288 100616288 G T snp 144.77 0/1 99 36 29 7 0.19 intronic rs201235128 MUC12 AU NM_001164462 exon1 c.67+3318G>T 0 D 1 N -1.016 T Uncertain 7_100616310_G->C 7 100616310 100616310 G C snp 34.77 0/1 63 33 29 4 0.12 intronic rs199943216 MUC12 AU NM_001164462 exon1 c.67+3340G>C 0 D 1 N -0.997 T Uncertain 7_100616313_T->A 7 100616313 100616313 T A snp 41.77 0/1 70 33 29 4 0.12 intronic rs200896810 MUC12 AU NM_001164462 exon1 c.67+3343T>A 0 D 1 N -1.001 T Uncertain 7_100616320_G->A 7 100616320 100616320 G A snp 34.77 0/1 63 33 29 4 0.12 intronic rs200695576 MUC12 AU NM_001164462 exon1 c.67+3350G>A 0 D 1.000 N -1.036 T ID=COSM4139318;OCCURENCE=1(pancreas) Likely pathogenic 7_100616332_T->C 7 100616332 100616332 T C snp 38.77 0/1 67 30 26 4 0.13 intronic rs369342199 MUC12 AU NM_001164462 exon1 c.67+3362T>C Uncertain 7_100616336_G->A 7 100616336 100616336 G A snp 40.77 0/1 69 29 25 4 0.14 intronic MUC12 AU NM_001164462 exon1 c.67+3366G>A 1 T 1 N Uncertain 7_100616338_A->G 7 100616338 100616338 A G snp 43.77 0/1 72 29 25 4 0.14 intronic MUC12 AU NM_001164462 exon1 c.67+3368A>G 0 D 1 N -0.993 T Uncertain 7_100616344_G->A 7 100616344 100616344 G A snp 48.77 0/1 77 25 21 4 0.16 intronic MUC12 AU NM_001164462 exon1 c.67+3374G>A 0 D 1 N -1.006 T Uncertain 7_100624718_G->C 7 100624718 100624718 G C snp 1279.77 1/1 90 49 0 49 1.0 intronic rs4363124 MUC12 AU NM_001164462 exon2 c.21008-9193G>C 0.73103 0.8006 0.7359 0.8041 1 T 0.0 P -0.974 T Uncertain 7_100634476_C->G 7 100634476 100634476 C G snp 1080.77 1/1 81 29 0 29 1.0 exonic rs6980143 MUC12 AU nonsynonymous SNV NM_001164462 exon2 c.C632G p.T211S 0.597444 0.7748 0.544678 0.5722 0.8121 1 T 0.0 P -0.979 T Pathogenic 7_100634640_T->G 7 100634640 100634640 T G snp 4072.77 1/1 99 155 0 155 1.0 exonic rs1791 MUC12 AU nonsynonymous SNV NM_001164462 exon2 c.T796G p.S266A 0.766174 0.7946 0.745072 0.7383 0.8275 0.98 T 0.0 P -0.967 T Pathogenic 7_100634892_G->A 7 100634892 100634892 G A snp 716.77 0/1 99 112 85 27 0.24 exonic rs201384124 MUC12 AU nonsynonymous SNV NM_001164462 exon2 c.G1048A p.A350T 0.0671 0.0579 1 T 1 N -0.945 T Pathogenic 7_100634894_G->A 7 100634894 100634894 G A snp 773.77 0/1 99 119 89 30 0.25 exonic rs752727121 MUC12 AU synonymous SNV NM_001164462 exon2 c.G1050A p.A350A 0.0598 0.0491 Uncertain 7_100634905_A->T 7 100634905 100634905 A T snp 1017.77 0/1 99 141 101 40 0.28 exonic rs61747424 MUC12 AU nonsynonymous SNV NM_001164462 exon2 c.A1061T p.H354L 0.0139 0.0346 0.33 T 1 N -0.968 T Pathogenic 7_100634906_T->C 7 100634906 100634906 T C snp 1110.77 0/1 99 142 101 41 0.29 exonic rs752124477 MUC12 AU synonymous SNV NM_001164462 exon2 c.T1062C p.H354H 0.0140 0.0348 Uncertain 7_100634921_A->G 7 100634921 100634921 A G snp 1926.77 0/1 99 188 112 76 0.4 exonic rs201081908 MUC12 AU synonymous SNV NM_001164462 exon2 c.A1077G p.T359T 0.0151 0.0401 Uncertain 7_100634922_G->A 7 100634922 100634922 G A snp 1896.77 0/1 99 190 113 77 0.41 exonic rs199720463 MUC12 AU nonsynonymous SNV NM_001164462 exon2 c.G1078A p.A360T 0.0155 0.0417 1 T 1 N -0.962 T Pathogenic 7_100634933_G->C 7 100634933 100634933 G C snp 3441.77 0/1 99 250 125 125 0.5 exonic rs182707377 MUC12 AU nonsynonymous SNV NM_001164462 exon2 c.G1089C p.R363S 0.0301 0.11 1 T 1 N -0.968 T Pathogenic 7_100634964_C->A 7 100634964 100634964 C A snp 8364.77 1/1 99 249 0 249 1.0 exonic rs4370452 MUC12 AU nonsynonymous SNV NM_001164462 exon2 c.C1120A p.P374T 0.470447 0.6111 0.4934 0.6512 0.42 T 0.0 P -0.965 T Pathogenic 7_100635375_A->C 7 100635375 100635375 A C snp 6756.77 1/1 99 225 0 225 1.0 exonic rs10808115 MUC12 AU nonsynonymous SNV NM_001164462 exon2 c.A1531C p.S511R 0.505591 0.6151 0.519054 0.5083 0.6517 0.3 T 0.0 P -1.006 T Pathogenic 7_100635591_C->A 7 100635591 100635591 C A snp 2765.77 1/1 99 82 0 82 1.0 exonic rs10953312 MUC12 AU nonsynonymous SNV NM_001164462 exon2 c.C1747A p.R583S 0.518178 0.5084 0.6547 0.92 T 0.0 P -0.937 T Pathogenic 7_100635661_T->C 7 100635661 100635661 T C snp 7522.77 1/1 99 250 0 250 1.0 exonic rs10953313 MUC12 AU nonsynonymous SNV NM_001164462 exon2 c.T1817C p.M606T 0.770767 0.7986 0.746824 0.7415 0.8315 1 T 0.0 P -0.971 T Pathogenic 7_100635679_C->G 7 100635679 100635679 C G snp 8144.77 1/1 99 249 0 249 1.0 exonic rs10953314 MUC12 AU nonsynonymous SNV NM_001164462 exon2 c.C1835G p.T612S 0.471645 0.6111 0.480508 0.4938 0.6612 0.76 T 0.0 P -0.973 T Pathogenic 7_100647819_C->T 7 100647819 100647819 C T snp 1102.77 1/1 81 40 0 40 1.0 exonic rs11766024 MUC12 AU nonsynonymous SNV NM_001164462 exon2 c.C13975T p.H4659Y 0.387181 0.5794 0.4306 0.6192 1 T 0.0 P -0.914 T Pathogenic 7_100647875_C->A 7 100647875 100647875 C A snp 2884.77 1/1 99 94 1 93 0.99 exonic rs11766048 MUC12 AU synonymous SNV NM_001164462 exon2 c.C14031A p.S4677S 0.629792 0.63 0.674551 0.6558 0.6667 Uncertain 7_100647920_A->C 7 100647920 100647920 A C snp 4236.77 1/1 99 133 0 133 1.0 exonic rs11772963 MUC12 AU synonymous SNV NM_001164462 exon2 c.A14076C p.T4692T 0.469649 0.6111 0.480070 0.4908 0.6483 Uncertain 7_100648029_G->A 7 100648029 100648029 G A snp 5133.77 1/1 99 186 1 185 0.99 exonic rs10953315 MUC12 AU nonsynonymous SNV NM_001164462 exon2 c.G14185A p.A4729T 0.767173 0.7966 0.745291 0.7424 0.8314 1 T 0.0 P -0.902 T Pathogenic 7_100648117_C->G 7 100648117 100648117 C G snp 3671.77 1/1 99 116 0 116 1.0 exonic rs11766125 MUC12 AU nonsynonymous SNV NM_001164462 exon2 c.C14273G p.T4758R 0.469848 0.6111 0.480508 0.4945 0.6520 0.46 T 0.0 P -0.973 T Pathogenic 7_100651855_A->G 7 100651855 100651855 A G snp 3560.77 1/1 99 121 0 121 1.0 intronic rs12532750 MUC12 AU NM_001164462 exon4 c.39011-59A>G 0.486022 0.6111 Uncertain 7_100652181_G->A 7 100652181 100652181 G A snp 552.77 1/1 42 14 0 14 1.0 intronic rs12538004 MUC12 AU NM_001164462 exon4 c.39139+139G>A 0.51278 0.6131 Uncertain 7_100652317_T->G 7 100652317 100652317 T G snp 1032.77 1/1 78 32 0 32 1.0 intronic rs12540832 MUC12 AU NM_001164462 exon5 c.39472-58T>G 0.513379 0.6151 0.518178 Uncertain 7_100656003_G->C 7 100656003 100656003 G C snp 1749.77 1/1 99 49 0 49 1.0 intronic rs3924886 MUC12 AU NM_001164462 exon7 c.43196-96G>C 0.486821 0.6141 Uncertain 7_100658717_T->C 7 100658717 100658717 T C snp 383.77 1/1 30 11 0 11 1.0 ncRNA_intronic rs10229453 LOC102724094 AU 0.533147 0.6171 Uncertain 7_100659104_T->C 7 100659104 100659104 T C snp 391.77 1/1 30 11 0 11 1.0 ncRNA_intronic rs55869514 LOC102724094 AU 0.532548 0.6171 Uncertain 7_100675976_G->A 7 100675976 100675976 G A snp 7907.77 1/1 99 250 0 250 1.0 exonic rs56103274 MUC17 AU nonsynonymous SNV NM_001040105 exon3 c.G1279A p.A427T 0.385783 0.5575 0.389897 0.4448 0.5656 0.75 T 0.0 P -0.936 T 0.002 T 0.001 T Pathogenic 7_100678086_T->C 7 100678086 100678086 T C snp 525.77 1/1 42 17 0 17 1.0 exonic rs4729647 MUC17 AU nonsynonymous SNV NM_001040105 exon3 c.T3389C p.I1130T 0.964657 0.9931 0.923231 0.8643 0.9177 1 T 0.0 P -1.007 T 0.0 T 0.0 T Pathogenic 7_100679902_A->G 7 100679902 100679902 A G snp 6383.77 1/1 99 195 0 195 1.0 exonic rs55974941 MUC17 AU synonymous SNV NM_001040105 exon3 c.A5205G p.E1735E 0.385982 0.5595 0.389743 0.4448 0.5667 Uncertain 7_100681359_C->G 7 100681359 100681359 C G snp 3533.77 1/1 99 109 0 109 1.0 exonic rs11979706 MUC17 AU nonsynonymous SNV NM_001040105 exon3 c.C6662G p.P2221R 0.671326 0.8393 0.6255 0.7995 0.37 T 0.0 P -1.122 T 0.985 D 0.53 D Pathogenic 7_100681762_A->G 7 100681762 100681762 A G snp 8182.77 1/1 99 250 0 250 1.0 exonic rs10953316 MUC17 AU synonymous SNV NM_001040105 exon3 c.A7065G p.T2355T 0.722045 0.8393 0.673920 0.6488 0.8072 Uncertain 7_100692341_C->G 7 100692341 100692341 C G snp 762.77 1/1 57 21 0 21 1.0 intronic rs4515470 MUC17 AU NM_001040105 exon5 c.28837+88C>G 0.298123 0.5556 Uncertain 7_100692680_T->G 7 100692680 100692680 T G snp 2638.77 1/1 99 107 1 106 0.99 intronic rs10246021 MUC17 AU NM_001040105 exon6 c.29247+17T>G 0.720447 0.8393 0.672074 0.6492 0.8097 Uncertain 7_100694854_G->A 7 100694854 100694854 G A snp 874.77 1/1 63 31 0 31 1.0 intronic rs67328257 MUC17 AU NM_001040105 exon8 c.31477-39G>A 0.328275 0.4425 0.294941 0.3079 0.4611 Uncertain 7_100695058_T->C 7 100695058 100695058 T C snp 4816.77 1/1 99 169 0 169 1.0 intronic rs6966570 MUC17 AU NM_001040105 exon9 c.31667-25T>C 0.79972 0.8413 0.789328 0.7344 0.8130 Uncertain 7_100701451_T->C 7 100701451 100701451 T C snp 351.78 1/1 27 9 0 9 1.0 UTR3 rs4729655 MUC17 AU 0.48103 0.6865 Uncertain 7_100731505_C->G 7 100731505 100731505 C G snp 906.77 1/1 66 35 0 35 1.0 exonic rs4524722 TRIM56 AU synonymous SNV NM_030961 exon3 c.C912G p.A304A 0.688299 0.5208 0.827822 0.7722 0.6902 Uncertain 7_100731829_T->C 7 100731829 100731829 T C snp 3449.77 1/1 99 133 0 133 1.0 exonic rs6948536 TRIM56 AU synonymous SNV NM_030961 exon3 c.T1236C p.A412A 0.708466 0.5496 0.802047 0.6916 0.5643 Uncertain 7_100775087_-->AAC 7 100775087 100775087 - AAC indel 744.73 ./1 99 16 0 16 1.0 intronic rs143613360 SERPINE1 AR,AD,AU NM_000602 exon4 c.3481-68insAAC 0.663139 0.5526 Uncertain 7_100775088_AAC->- 7 100775088 100775090 AAC - indel 744.73 ./1 99 16 0 16 1.0 intronic rs199827473 SERPINE1 AR,AD,AU NM_000602 exon4 c.3481-67_3481-65delAAC 0.143171 0.3819 Uncertain 7_100776931_G->A 7 100776931 100776931 G A snp 768.77 0/1 99 55 26 29 0.53 intronic rs2227684 SERPINE1 AR,AD,AU NM_000602 exon5 c.5301-44G>A 0.428514 0.4554 0.456559 0.4195 0.4657 Uncertain 7_100777267_T->C 7 100777267 100777267 T C snp 62.77 0/1 91 11 8 3 0.27 intronic rs2070682 SERPINE1 AR,AD,AU NM_000602 exon5 c.5500+93T>C 0.429113 0.4554 Uncertain 7_100780176_A->G 7 100780176 100780176 A G snp 1726.77 1/1 99 51 0 51 1.0 intronic rs2227694 SERPINE1 AR,AD,AU NM_000602 exon8 c.8607-105A>G 0.899561 0.9484 Uncertain 7_100781445_T->G 7 100781445 100781445 T G snp 1407.77 0/1 99 114 55 59 0.52 UTR3 rs7242 SERPINE1 AR,AD,AU 0.430511 0.4544 Uncertain 7_100799970_C->T 7 100799970 100799970 C T snp 1308.77 0/1 99 122 61 61 0.5 exonic rs77387752 AP1S1 AR synonymous SNV NM_001283 exon2 c.C99T p.R33R 0.0197684 0.0744 0.002407 0.0098 0.0747 1 D -1.043 T Likely benign 7_100800131_T->C 7 100800131 100800131 T C snp 219.77 0/1 99 14 7 7 0.5 intronic rs4727481 AP1S1 AR NM_001283 exon2 c.2258+78T>C 0.938498 0.9087 Uncertain 7_100800635_G->A 7 100800635 100800635 G A snp 398.77 0/1 99 32 16 16 0.5 intronic rs2074686 AP1S1 AR NM_001283 exon3 c.2862-22G>A 0.440895 0.4355 0.5381 0.4832 Uncertain 7_100803614_C->T 7 100803614 100803614 C T snp 207.77 0/1 99 20 12 8 0.4 intronic rs2074683 AP1S1 AR NM_001283 exon5 c.6004-185C>T 0.461062 0.4345 Uncertain 7_100804140_C->T 7 100804140 100804140 C T snp 504.77 0/1 99 53 31 22 0.42 UTR3 rs1048303 AP1S1 AR 0.461062 0.4345 Uncertain 7_100816527_A->G 7 100816527 100816527 A G snp 567.77 0/1 99 40 18 22 0.55 intronic rs2009973 NAT16 AU NM_198571 exon2 c.1217-49A>G 0.949681 0.9206 0.942941 0.9289 0.9227 Uncertain 7_100817667_G->T 7 100817667 100817667 G T snp 64.77 0/1 69 6 2 4 0.67 intronic rs757721 NAT16 AU NM_198571 exon3 c.2417-109G>T 0.95028 0.9206 Uncertain 7_100817676_A->G 7 100817676 100817676 A G snp 182.77 0/1 99 10 4 6 0.6 intronic rs740107 NAT16 AU NM_198571 exon3 c.2417-100A>G 0.786741 0.7887 Uncertain 7_100818193_G->C 7 100818193 100818193 G C snp 298.77 0/1 99 22 10 12 0.55 intronic rs2015923 NAT16 AU NM_198571 exon3 c.2733+101G>C 0.95028 0.9206 Uncertain 7_100841285_T->C 7 100841285 100841285 T C snp 220.84 1/1 18 6 0 6 1.0 intronic rs1004242 MOGAT3 AU NM_001287147 exon2 c.2268-186T>C 1 1 Uncertain 7_100841389_A->C 7 100841389 100841389 A C snp 2931.77 1/1 99 106 0 106 1.0 intronic rs2158612 MOGAT3 AU NM_001287147 exon2 c.2268-82A>C 1 1 Uncertain 7_100841863_T->A 7 100841863 100841863 T A snp 46.77 0/1 33 3 1 2 0.67 intronic rs3735337 MOGAT3 AU NM_001287147 exon3 c.2703-43T>A 0.420927 0.4484 0.360132 0.3114 0.4225 Uncertain 7_100849444_C->T 7 100849444 100849444 C T snp 43.77 0/1 72 8 5 3 0.38 UTR3 rs78594054 PLOD3 AR 0.0307508 0.0853 Uncertain 7_100849453_A->C 7 100849453 100849453 A C snp 73.77 0/1 99 12 8 4 0.33 UTR3 rs74786672 PLOD3 AR 0.0323482 0.0952 Uncertain 7_100849804_G->A 7 100849804 100849804 G A snp 670.77 0/1 99 50 25 25 0.5 intronic rs4729670 PLOD3 AR NM_001084 exon1 c.156+87G>A 0.394369 0.2917 Uncertain 7_100849984_A->G 7 100849984 100849984 A G snp 193.77 0/1 99 24 16 8 0.33 intronic rs11977763 PLOD3 AR NM_001084 exon2 c.498-75A>G 0.0323482 0.0952 Uncertain 7_100850010_C->A 7 100850010 100850010 C A snp 280.77 0/1 99 35 23 12 0.34 intronic rs80179986 PLOD3 AR NM_001084 exon2 c.498-49C>A 0.0271565 0.0952 0.004863 0.0147 0.1187 Uncertain 7_100850048_A->G 7 100850048 100850048 A G snp 628.77 0/1 99 64 36 28 0.44 intronic rs4729671 PLOD3 AR NM_001084 exon2 c.498-11A>G 0.250399 0.1895 0.193213 0.2528 0.3024 Uncertain 7_100850144_G->A 7 100850144 100850144 G A snp 632.77 0/1 99 59 26 33 0.56 exonic rs11546151 PLOD3 AR synonymous SNV NM_001084 exon18 c.C1977T p.D659D 0.0325479 0.0952 0.010665 0.0243 0.1440 1.000 P -1.030 T Likely benign 7_100850680_T->C 7 100850680 100850680 T C snp 77.77 0/1 69 5 2 3 0.6 intronic rs75993027 PLOD3 AR NM_001084 exon3 c.1297-178T>C 0.0321486 0.0952 Uncertain 7_100850778_C->T 7 100850778 100850778 C T snp 591.77 0/1 99 61 36 25 0.41 intronic rs78167786 PLOD3 AR NM_001084 exon3 c.1297-80C>T 0.0325479 0.0962 Uncertain 7_100850792_G->A 7 100850792 100850792 G A snp 745.77 0/1 99 81 48 33 0.41 intronic rs113601976 PLOD3 AR NM_001084 exon3 c.1297-66G>A 0.0323482 0.0952 Uncertain 7_100850806_T->C 7 100850806 100850806 T C snp 836.77 0/1 99 91 54 37 0.41 intronic rs112880798 PLOD3 AR NM_001084 exon3 c.1297-52T>C 0.0323482 0.0952 Uncertain 7_100850808_C->T 7 100850808 100850808 C T snp 857.77 0/1 99 93 55 38 0.41 intronic rs117827620 PLOD3 AR NM_001084 exon3 c.1297-50C>T 0.029353 0.0952 0.0126 0.0891 Uncertain 7_100850908_G->A 7 100850908 100850908 G A snp 1793.77 0/1 99 156 73 83 0.53 exonic rs74498833 PLOD3 AR nonsynonymous SNV NM_001084 exon17 c.C1886T p.T629M 0.0323482 0.0952 0.008842 0.0131 0.0898 0.07 T 0.978 P -0.956 T 0.994 D 0.772 D Pathogenic 7_100851913_C->T 7 100851913 100851913 C T snp 132.77 0/1 99 11 6 5 0.45 intronic rs75500635 PLOD3 AR NM_001084 exon4 c.2572-220C>T 0.0335463 0.0952 Uncertain 7_100852084_T->C 7 100852084 100852084 T C snp 2418.77 0/1 99 220 114 106 0.48 intronic rs77698195 PLOD3 AR NM_001084 exon4 c.2572-49T>C 0.0335463 0.0952 0.001922 0.0134 0.0899 Uncertain 7_100852085_G->A 7 100852085 100852085 G A snp 2386.77 0/1 99 220 113 107 0.49 intronic rs79700584 PLOD3 AR NM_001084 exon4 c.2572-48G>A 0.0335463 0.0952 0.002384 0.0134 0.0898 Uncertain 7_100853173_T->C 7 100853173 100853173 T C snp 185.9 1/1 15 6 0 6 1.0 intronic rs1468358 PLOD3 AR NM_001084 exon5 c.3812-200T>C 0.45627 0.4851 Uncertain 7_100853714_G->A 7 100853714 100853714 G A snp 1107.77 0/1 99 147 95 52 0.35 exonic rs79729122 PLOD3 AR synonymous SNV NM_001084 exon14 c.C1512T p.L504L 0.0335463 0.0952 0.010226 0.0134 0.0891 1.0 P -0.966 T Likely benign 7_100853807_G->A 7 100853807 100853807 G A snp 1752.77 0/1 99 238 149 89 0.37 splicing rs77805300 PLOD3 AR NM_001084 exon7 c.4251-5G>A 0.0313498 0.0952 0.009073 0.0129 0.0892 Pathogenic 7_100855031_G->C 7 100855031 100855031 G C snp 1849.77 0/1 99 149 69 80 0.54 intronic rs2301904 PLOD3 AR NM_001084 exon8 c.5436+34G>C 0.0311502 0.0952 0.008099 0.0155 0.1058 Uncertain 7_100855724_A->G 7 100855724 100855724 A G snp 766.77 0/1 99 66 35 31 0.47 intronic rs2107803 PLOD3 AR NM_001084 exon10 c.6094+69A>G 0.0311502 0.0952 Uncertain 7_100855823_G->A 7 100855823 100855823 G A snp 719.77 0/1 99 72 42 30 0.42 exonic rs1546841 PLOD3 AR synonymous SNV NM_001084 exon9 c.C993T p.F331F 0.0311502 0.0952 0.009689 0.0124 0.0888 0.08 T 1.000 P -0.921 T Likely benign 7_100855877_G->A 7 100855877 100855877 G A snp 462.77 0/1 99 62 38 24 0.39 exonic rs1546840 PLOD3 AR synonymous SNV NM_001084 exon9 c.C939T p.R313R 0.0313498 0.0952 0.010535 0.0127 0.0888 0 D 1.000 P -1.013 T Likely benign 7_100856294_A->C 7 100856294 100856294 A C snp 529.77 0/1 99 44 24 20 0.45 intronic rs2286120 PLOD3 AR NM_001084 exon12 c.6663+70A>C 0.0313498 0.0952 Uncertain 7_100858557_C->T 7 100858557 100858557 C T snp 143.77 0/1 99 17 11 6 0.35 intronic rs77196583 PLOD3 AR NM_001084 exon14 c.8872+124C>T 0.0307508 0.0952 Uncertain 7_100865847_T->C 7 100865847 100865847 T C snp 161.77 0/1 99 24 18 6 0.25 intronic rs10953329 ZNHIT1 AU NM_006349 exon2 c.4408-37T>C 0.386581 0.2639 0.362194 0.3091 0.2643 Uncertain 7_100888151_G->A 7 100888151 100888151 G A snp 841.77 0/1 99 55 20 35 0.64 intronic rs79645520 FIS1 AU NM_016068 exon5 c.5154-89G>A 0.0217652 0.0923 0.0152 0.1311 Uncertain 7_100959859_G->A 7 100959859 100959859 G A snp 2020.77 0/1 99 159 76 83 0.52 ncRNA_intronic rs74199090 LOC101927746 AU 0.0626997 0.0645 0.064893 0.0596 0.0552 Uncertain 7_100962202_T->A 7 100962202 100962202 T A snp 1377.77 0/1 99 107 49 58 0.54 ncRNA_intronic rs3757464 LOC101927746 AU 0.0369409 0.0645 0.037367 0.0520 0.0543 Uncertain 7_100962512_G->C 7 100962512 100962512 G C snp 101.77 0/1 99 9 5 4 0.44 ncRNA_intronic rs11766704 LOC101927746 AU 0.245008 0.3948 Uncertain 7_100965096_-->G 7 100965096 100965096 - G indel 3955.73 1/1 99 112 0 112 1.0 UTR5 rs11369267 IFT22 AU 0.999601 1 Uncertain 7_101006193_C->T 7 101006193 101006193 C T snp 178.9 1/1 15 5 0 5 1.0 UTR5 rs4989272 COL26A1 AU 0.624401 0.6756 Uncertain 7_101006216_G->C 7 101006216 101006216 G C snp 221.84 1/1 18 7 0 7 1.0 UTR5 rs4989271 COL26A1 AU 0.624401 0.6756 Uncertain 7_101006223_C->T 7 101006223 101006223 C T snp 269.8 1/1 21 10 0 10 1.0 UTR5 rs4989270 COL26A1 AU 0.624201 0.6746 Uncertain 7_101006230_T->G 7 101006230 101006230 T G snp 295.78 1/1 24 11 0 11 1.0 UTR5 rs4989269 COL26A1 AU 0.624401 0.6766 Uncertain 7_101006233_C->T 7 101006233 101006233 C T snp 410.77 1/1 33 14 0 14 1.0 UTR5 rs4989268 COL26A1 AU 0.624401 0.6766 Uncertain 7_101006376_C->T 7 101006376 101006376 C T snp 1027.77 1/1 72 44 0 44 1.0 exonic rs4989267 COL26A1 AU unknown 0.621605 0.6786 0.596964 0.5446 0.6774 Uncertain 7_101006382_C->T 7 101006382 101006382 C T snp 1010.77 1/1 72 41 0 41 1.0 exonic rs4989266 COL26A1 AU unknown 0.620208 0.6766 0.601641 0.5316 0.6616 Uncertain 7_101090831_G->A 7 101090831 101090831 G A snp 1234.77 1/1 93 35 0 35 1.0 intronic rs17135418 COL26A1 AU NM_001278563 exon3 c.84651-133G>A 0.444489 0.4931 Uncertain 7_101188852_T->C 7 101188852 101188852 T C snp 519.77 0/1 78 29 5 24 0.83 intronic rs9886175 COL26A1 AU NM_001278563 exon7 c.182458+81T>C 0.460863 0.1002 Uncertain 7_101192542_G->A 7 101192542 101192542 G A snp 2131.77 0/1 99 178 77 101 0.57 intronic rs57977430 COL26A1 AU NM_001278563 exon9 c.186191+38G>A 0.121605 0.0069 0.142440 0.1252 0.0066 Uncertain 7_101194424_C->T 7 101194424 101194424 C T snp 608.77 0/1 99 47 22 25 0.53 exonic rs17135626 COL26A1 AU unknown 0.290535 0.0575 0.358175 0.3862 0.1202 Uncertain 7_101194461_C->A 7 101194461 101194461 C A snp 369.77 0/1 99 28 16 12 0.43 intronic rs73715304 COL26A1 AU NM_001278563 exon10 c.188111+37C>A 0.175519 0.0248 0.174560 0.1872 0.0239 Uncertain 7_101196488_T->C 7 101196488 101196488 T C snp 416.77 0/1 99 41 24 17 0.41 intronic rs12674244 COL26A1 AU NM_001278563 exon11 c.190293-118T>C 0.492412 0.1806 Uncertain 7_101196688_C->T 7 101196688 101196688 C T snp 1193.77 0/1 99 106 51 55 0.52 intronic rs13235234 COL26A1 AU NM_001278563 exon11 c.190344+31C>T 0.372005 0.1052 0.483029 0.4557 0.1060 Uncertain 7_101196756_A->G 7 101196756 101196756 A G snp 214.77 0/1 99 36 25 11 0.31 intronic rs3800980 COL26A1 AU NM_001278563 exon11 c.190344+99A>G 0.49401 0.1875 Uncertain 7_101199257_G->A 7 101199257 101199257 G A snp 1296.77 1/1 96 44 0 44 1.0 intronic rs4729728 COL26A1 AU NM_001278563 exon12 c.192839+105G>A 0.964257 0.998 Uncertain 7_101200628_C->A 7 101200628 101200628 C A snp 2888.77 0/1 99 247 121 126 0.51 intronic rs11768650 COL26A1 AU NM_001278563 exon13 c.194337-22C>A 0.147963 0.0288 0.163609 0.1779 0.0270 Uncertain 7_101200669_-->G 7 101200669 101200669 - G indel 9160.73 1/1 99 236 0 236 1.0 exonic rs36008849 COL26A1 AU unknown 1 1 0.999659 1.0000 1 Uncertain 7_101200835_A->G 7 101200835 101200835 A G snp 1551.77 1/1 99 47 0 47 1.0 UTR3 rs7809926 COL26A1 AU 0.980431 0.999 0.970835 0.9736 0.9996 Uncertain 7_101265350_T->C 7 101265350 101265350 T C snp 3970.77 1/1 99 133 0 133 1.0 intronic rs4263675 MYL10 AU NM_138403 exon4 c.8621-25T>C 0.986621 0.999 0.976319 0.9752 0.9998 Uncertain 7_101266379_T->C 7 101266379 101266379 T C snp 1568.77 0/1 99 144 76 68 0.47 intronic rs7794055 MYL10 AU NM_138403 exon5 c.9598+27T>C 0.2502 0.0605 0.315777 0.3216 0.0621 Uncertain 7_101267435_T->C 7 101267435 101267435 T C snp 722.77 0/1 99 98 62 36 0.37 intronic rs876825 MYL10 AU NM_138403 exon7 c.10697-16T>C 0.436302 0.2619 0.543518 0.5201 0.2251 Uncertain 7_101272465_T->C 7 101272465 101272465 T C snp 446.77 1/1 33 16 0 16 1.0 UTR5 rs848644 MYL10 AU 0.986621 0.999 Uncertain 7_101459161_T->C 7 101459161 101459161 T C snp 474.77 1/1 36 17 0 17 1.0 upstream rs28650922 CUX1 AU 1 1 Uncertain 7_101671294_G->A 7 101671294 101671294 G A snp 48.74 1/1 6 2 0 2 1.0 intronic rs4729769 CUX1 AU NM_001202543 exon3 c.212067-83G>A 0.580272 0.9623 Uncertain 7_101671302_T->C 7 101671302 101671302 T C snp 93.28 1/1 9 3 0 3 1.0 intronic rs4727517 CUX1 AU NM_001202543 exon3 c.212067-75T>C 0.538339 0.9623 0.322821 Uncertain 7_101671585_A->G 7 101671585 101671585 A G snp 705.77 1/1 51 27 0 27 1.0 intronic rs448877 CUX1 AU NM_001202543 exon3 c.212115+160A>G 0.9998 1 Uncertain 7_101713567_T->C 7 101713567 101713567 T C snp 56.74 1/1 6 2 0 2 1.0 intronic rs377587 CUX1 AU NM_001202543 exon4 c.254308-51T>C 0.879393 0.9911 0.825534 Uncertain 7_101713590_T->C 7 101713590 101713590 T C snp 314.78 1/1 24 11 0 11 1.0 intronic rs377612 CUX1 AU NM_001202543 exon4 c.254308-28T>C 0.879393 0.9911 0.827234 0.8528 0.9903 Uncertain 7_101747605_C->T 7 101747605 101747605 C T snp 115.77 0/1 99 38 30 8 0.21 intronic CUX1 AU NM_001202543 exon6 c.288305-10C>T 0.0048 0.0006 Uncertain 7_101870599_A->G 7 101870599 101870599 A G snp 1619.77 1/1 99 50 0 50 1.0 intronic CUX1 AU NM_001202543 exon21 c.411336-47A>G 0.9998 1 0.997688 0.9988 1 Uncertain 7_101892121_G->A 7 101892121 101892121 G A snp 750.77 1/1 57 21 0 21 1.0 exonic CUX1 AU synonymous SNV NM_001202543 exon24 c.G4350A p.P1450P 0.544529 0.9097 0.7 0.9310 Uncertain 7_101892328_C->T 7 101892328 101892328 C T snp 2846.77 1/1 99 115 0 115 1.0 UTR3 CUX1 AU 0.578874 0.9038 0.421301 0.6442 0.8875 Uncertain 7_101916647_A->G 7 101916647 101916647 A G snp 874.77 0/1 99 105 67 38 0.36 exonic CUX1 AU synonymous SNV NM_001202544 exon14 c.A1218G p.A406A 0.733626 0.5188 0.809549 0.7296 0.5216 Uncertain 7_101917521_G->A 7 101917521 101917521 G A snp 1372.77 0/1 99 107 49 58 0.54 exonic CUX1 AU nonsynonymous SNV NM_001202544 exon15 c.G1342A p.A448T 0.559105 0.498 0.574965 0.5685 0.4980 0.61 T 0.0 P -0.953 T 0.229 T 0.052 T Pathogenic 7_101917647_A->G 7 101917647 101917647 A G snp 1475.77 0/1 99 121 59 62 0.51 intronic CUX1 AU NM_001202544 exon15 c.458271+66A>G 0.734225 0.5228 0.799825 Uncertain 7_101917772_A->G 7 101917772 101917772 A G snp 58.77 0/1 87 9 6 3 0.33 intronic CUX1 AU NM_001202544 exon15 c.458271+191A>G 0.670128 0.5238 Uncertain 7_101921522_C->G 7 101921522 101921522 C G snp 99.28 1/1 9 3 0 3 1.0 intronic CUX1 AU NM_001202544 exon17 c.462026+186C>G 1 1 Uncertain 7_101923315_-->C 7 101923315 101923315 - C indel 2614.73 0/1 99 173 94 79 0.46 intronic rs371965540 CUX1 AU NM_001202544 exon18 c.464018-13insC 0.731829 0.5159 0.808706 0.7303 0.5130 Uncertain 7_101925065_G->T 7 101925065 101925065 G T snp 772.77 0/1 99 42 17 25 0.6 intronic rs803069 CUX1 AU NM_001202544 exon20 c.465821-66G>T 0.501398 0.4802 Uncertain 7_101925338_A->G 7 101925338 101925338 A G snp 661.77 0/1 99 50 28 22 0.44 intronic rs2257738 CUX1 AU NM_001202544 exon20 c.465902+126A>G 0.60603 0.5179 Uncertain 7_101926087_G->T 7 101926087 101926087 G T snp 444.77 0/1 99 52 31 21 0.4 intronic rs73712454 CUX1 AU NM_001202544 exon21 c.466758+19G>T 0.204273 0.1885 0.234579 0.2849 0.1766 Uncertain 7_101926228_T->C 7 101926228 101926228 T C snp 296.77 0/1 99 25 12 13 0.52 intronic rs803070 CUX1 AU NM_001202544 exon22 c.467002-84T>C 0.606829 0.5139 Uncertain 7_101928495_G->C 7 101928495 101928495 G C snp 4830.77 1/1 99 182 0 182 1.0 exonic rs803074 SH2B2 AU unknown 0.538538 0.2956 0.637100 0.6012 0.2984 1 T 0.723 P -0.929 T Uncertain 7_101928585_G->A 7 101928585 101928585 G A snp 5283.77 1/1 99 188 0 188 1.0 intronic rs803075 SH2B2 AU NM_020979 exon1 c.100+36G>A 0.445288 0.2748 0.5337 0.2711 Uncertain 7_101943825_G->A 7 101943825 101943825 G A snp 2790.77 0/1 99 250 135 115 0.46 exonic rs118095512 SH2B2 AU unknown 0.0251597 0.1151 0.000910 0.0076 0.1444 Uncertain 7_101949878_A->T 7 101949878 101949878 A T snp 133.03 1/1 12 4 0 4 1.0 intronic rs712843 SH2B2 AU NM_020979 exon3 c.21554-125A>T 0.976837 0.999 Uncertain 7_101953534_T->G 7 101953534 101953534 T G snp 59.74 1/1 6 3 0 3 1.0 intronic rs809120 SH2B2 AU NM_020979 exon4 c.23739+1346T>G 0.968051 0.9921 Uncertain 7_101961017_G->A 7 101961017 101961017 G A snp 1314.77 0/1 99 116 61 55 0.47 intronic rs377212746 SH2B2 AU NM_020979 exon6 c.32520+48G>A 0.000081 0.0004 0.0046 Uncertain 7_102036397_C->- 7 102036397 102036397 C - indel 1876.73 0/1 99 91 41 50 0.55 ncRNA_intronic rs28366045 LOC100630923 AU 0.427716 0.3869 0.5593 0.3913 Uncertain 7_102038154_TGTG->- 7 102038154 102038157 TGTG - indel 7591.73 1/1 99 224 3 221 0.99 ncRNA_intronic rs781988781 LOC100630923 AU 0.6008 0.6224 Uncertain 7_102046061_A->T 7 102046061 102046061 A T snp 125.78 0/1 25 5 1 4 0.8 ncRNA_intronic rs147941221 LOC100630923 AU 0.000599042 0.001 Uncertain 7_102046070_T->A 7 102046070 102046070 T A snp 220.84 0/1 18 9 1 8 0.89 ncRNA_intronic rs6971258 LOC100630923 AU 0.765974 0.7321 Uncertain 7_102046359_G->C 7 102046359 102046359 G C snp 1369.77 1/1 99 48 0 48 1.0 ncRNA_intronic rs6955864 LOC100630923 AU 0.766773 0.7321 Uncertain 7_102063364_GAAACATCC->- 7 102063364 102063372 GAAACATCC - indel 3835.73 1/1 99 34 0 34 1.0 ncRNA_intronic rs143532608 LOC100630923 AU 0.759385 0.7321 Uncertain 7_102063527_G->C 7 102063527 102063527 G C snp 3417.77 1/1 99 111 0 111 1.0 ncRNA_intronic rs7384395 LOC100630923 AU 0.990216 1 0.9976 1 Uncertain 7_102065322_A->G 7 102065322 102065322 A G snp 756.77 1/1 57 23 0 23 1.0 ncRNA_intronic LOC100630923 AU 0.936701 1 Uncertain 7_102086891_C->T 7 102086891 102086891 C T snp 849.77 1/1 63 24 0 24 1.0 intronic rs12672132 ORAI2 AU NM_032831 exon3 c.7556-68C>T 0.951278 1 Uncertain 7_102087202_T->C 7 102087202 102087202 T C snp 2301.77 0/1 99 247 155 92 0.37 exonic rs1129271 ORAI2 AU synonymous SNV NM_001271819 exon3 c.T237C p.L79L 0.233427 0.502 0.094341 0.1194 0.4925 Uncertain 7_102105984_T->G 7 102105984 102105984 T G snp 120.77 0/1 99 23 18 5 0.22 intronic rs10953368 LRWD1 AU NM_152892 exon2 c.736-279T>G 0.513778 0.378 0.8333 0.5 Uncertain 7_102107697_G->C 7 102107697 102107697 G C snp 252.77 0/1 99 21 12 9 0.43 intronic rs11761361 LRWD1 AU NM_152892 exon4 c.2258-88G>C 0.471246 0.377 Uncertain 7_102108012_G->C 7 102108012 102108012 G C snp 1534.77 0/1 99 100 37 63 0.63 intronic rs6971245 LRWD1 AU NM_152892 exon4 c.2399+86G>C 0.185903 0.4573 Uncertain 7_102108152_C->T 7 102108152 102108152 C T snp 1726.77 0/1 99 123 53 70 0.57 intronic rs4729791 LRWD1 AU NM_152892 exon5 c.2638-13C>T 0.16254 0.4573 0.037880 0.0951 0.4543 Uncertain 7_102108687_G->- 7 102108687 102108687 G - indel 1666.73 0/1 99 85 40 45 0.53 intronic rs75615228 LRWD1 AU NM_152892 exon7 c.3182-22delG 0.161342 0.4573 0.043325 0.1229 0.4767 Uncertain 7_102109858_AG->- 7 102109858 102109859 AG - indel 215.73 0/1 99 8 3 5 0.63 intronic rs80231128 LRWD1 AU NM_152892 exon10 c.4493-162_4493-161delAG 0.182308 0.4573 Uncertain 7_102110366_T->A 7 102110366 102110366 T A snp 122.77 0/1 66 6 2 4 0.67 intronic rs13223494 LRWD1 AU NM_152892 exon11 c.4802+37T>A 0.46266 0.377 0.585512 0.6059 0.4279 Uncertain 7_102111980_C->T 7 102111980 102111980 C T snp 1776.77 0/1 99 157 81 76 0.48 intronic rs12534337 LRWD1 AU NM_152892 exon12 c.7137-684C>T 0.185703 0.4573 0.2143 0.5 Uncertain 7_102112980_G->A 7 102112980 102112980 G A snp 909.77 0/1 99 78 40 38 0.49 exonic rs3800987 LRWD1 AU synonymous SNV NM_152892 exon13 c.G1614A p.T538T 0.461661 0.372 0.547675 0.6329 0.4905 0.000 P -1.039 T Likely benign 7_102113093_T->C 7 102113093 102113093 T C snp 1527.77 0/1 99 139 75 64 0.46 intronic rs3800988 LRWD1 AU NM_152892 exon13 c.7529+37T>C 0.527756 0.379 0.636615 0.6340 0.3870 Uncertain 7_102113256_T->C 7 102113256 102113256 T C snp 1864.77 0/1 99 156 72 84 0.54 splicing rs72603518 LRWD1 AU NM_152892 exon14 c.7724+5T>C 0.16893 0.4732 0.040769 0.1255 0.4745 Pathogenic 7_102113564_G->- 7 102113564 102113564 G - indel 1475.73 0/1 99 98 31 67 0.68 UTR3 rs398005638 LRWD1 AU 0.495807 0.374 Uncertain 7_102114087_C->T 7 102114087 102114087 C T snp 1458.77 0/1 99 122 54 68 0.56 UTR3 rs2229796 POLR2J AU 0.182508 0.4573 0.064509 0.1202 0.4585 Uncertain 7_102120821_T->G 7 102120821 102120821 T G snp 412.77 0/1 99 38 20 18 0.47 intergenic rs11767570 POLR2J AU 0.479233 0.3889 Uncertain 7_102136550_G->A 7 102136550 102136550 G A snp 3366.77 1/1 99 181 1 180 0.99 intergenic rs4247275 POLR2J AU 0.6155 0.6143 Uncertain 7_102136576_T->C 7 102136576 102136576 T C snp 702.77 0/1 99 221 157 64 0.29 intergenic rs200508577 POLR2J AU 0.0765 0.2862 Uncertain 7_102180651_G->A 7 102180651 102180651 G A snp 287.77 1/1 30 28 11 17 0.61 intronic rs62482963 POLR2J3 AU Uncertain 7_102343967_A->G 7 102343967 102343967 A G snp 1331.77 1/1 99 47 0 47 1.0 intergenic rs4729850 POLR2J2 AU 0.827476 0.747 Uncertain 7_102389833_G->C 7 102389833 102389833 G C snp 668.77 1/1 51 26 0 26 1.0 exonic rs28695887 FAM185A AU nonsynonymous SNV NM_001145268 exon1 c.G179C p.G60A 0.9956 1 0.77 T 0.0 P -0.960 T 0.0 T 0.0 T Pathogenic 7_102392358_C->T 7 102392358 102392358 C T snp 441.77 1/1 36 12 0 12 1.0 intronic rs10280278 FAM185A AU NM_001145268 exon2 c.2594+110C>T 0.97524 1 Uncertain 7_102412901_T->C 7 102412901 102412901 T C snp 1760.77 0/1 99 245 153 92 0.38 splicing rs2539288 FAM185A AU NM_001145268 exon5 c.23243+4T>C 0.2846 0.2364 Pathogenic 7_102412940_A->G 7 102412940 102412940 A G snp 1397.77 0/1 99 201 127 74 0.37 intronic rs779027767 FAM185A AU NM_001145268 exon5 c.23243+43A>G 0.0026 0.0242 Uncertain 7_102427966_A->G 7 102427966 102427966 A G snp 1514.77 0/1 99 119 58 61 0.51 intronic rs57783515 FAM185A AU NM_001145268 exon7 c.38262+50A>G 0.0784744 0.0823 0.062199 0.0885 0.1021 Uncertain 7_102448664_C->T 7 102448664 102448664 C T snp 615.77 0/1 99 38 15 23 0.61 intronic rs57253646 FAM185A AU NM_001145268 exon8 c.59082-72C>T 0.311502 0.5645 Uncertain 7_102462636_T->C 7 102462636 102462636 T C snp 2287.77 0/1 99 238 130 108 0.45 exonic rs10279449 FBXL13 AU synonymous SNV NM_001111038 exon18 c.A1734G p.A578A 0.523363 0.5744 0.466169 0.4047 0.6045 Uncertain 7_102467671_G->A 7 102467671 102467671 G A snp 182.77 0/1 99 24 15 9 0.38 intronic rs73406250 FBXL13 AU NM_145032 exon2 c.8862+5021G>A 0.257588 0.4167 Uncertain 7_102518909_-->GT 7 102518909 102518909 - GT indel 1772.73 0/1 99 75 30 45 0.6 intronic rs10694618 FBXL13 AU NM_145032 exon6 c.65109+12insGT 0.34984 0.5655 0.240575 0.2453 0.5981 Uncertain 7_102574920_G->C 7 102574920 102574920 G C snp 2952.77 0/1 99 250 128 122 0.49 exonic rs1057066 LRRC17 AU nonsynonymous SNV NM_001031692 exon2 c.G560C p.G187A 0.192492 0.2837 0.133323 0.1478 0.2965 0.16 T 1.000 P -1.243 T 1.0 D 0.999 D Pathogenic 7_102575000_GAA->- 7 102575000 102575002 GAA - indel 5363.73 0/1 99 249 128 121 0.49 exonic rs3832497 LRRC17 AU nonframeshift deletion NM_001031692 exon2 c.640_642del p.214_214del 0.631789 0.4375 0.743473 0.7520 0.4020 Uncertain 7_102579826_G->A 7 102579826 102579826 G A snp 110.77 0/1 99 11 6 5 0.45 intronic rs79688042 FBXL13 AU NM_145032 exon12 c.118592+7446G>A 0.0838658 0.0833 0.059895 0.0841 0.0819 Uncertain 7_102616351_C->T 7 102616351 102616351 C T snp 44.77 0/1 33 3 1 2 0.67 intronic rs77574575 FBXL13 AU NM_145032 exon14 c.154776+7787C>T 0.250998 0.4127 0.163998 0.2171 0.4340 Uncertain 7_102616469_G->A 7 102616469 102616469 G A snp 1945.77 1/1 99 66 0 66 1.0 intronic rs2228687 FBXL13 AU NM_145032 exon14 c.154776+7905G>A 0.778554 0.8413 0.768684 0.8270 0.8275 Uncertain 7_102616515_G->A 7 102616515 102616515 G A snp 1825.77 0/1 99 125 52 73 0.58 intronic rs2228686 FBXL13 AU NM_145032 exon14 c.154776+7951G>A 0.294329 0.5526 0.174371 0.2262 0.5916 Uncertain 7_102668001_A->C 7 102668001 102668001 A C snp 999.77 1/1 72 36 0 36 1.0 exonic rs7805950 FBXL13 AU nonsynonymous SNV NM_001111038 exon5 c.T222G p.I74M 0.966254 1 0.970317 0.9909 1 0.48 T 0.0 P -0.973 T 0.0 T 0.001 T Pathogenic 7_102669227_T->C 7 102669227 102669227 T C snp 1020.77 0/1 99 73 31 42 0.58 intronic rs79826633 FBXL13 AU NM_145032 exon17 c.215407+32T>C 0.0792732 0.0883 0.049977 0.0949 0.1282 Uncertain 7_102669247_A->G 7 102669247 102669247 A G snp 500.77 0/1 99 42 23 19 0.45 intronic rs756769473 FBXL13 AU NM_145032 exon17 c.215407+52A>G 1.704e-05 0 Uncertain 7_102716220_G->T 7 102716220 102716220 G T snp 1427.77 0/1 99 133 74 59 0.44 splicing rs182004316 ARMC10 AU NM_001161010 exon2 c.504-3G>T 0.00299521 0.0149 0.0011 0.0143 Pathogenic 7_102722157_-->ATAAC 7 102722157 102722157 - ATAAC indel 596.75 1/1 24 8 0 8 1.0 intronic rs11473865 ARMC10 AU NM_001161012 exon2 c.8409-1971insATAAC 0.863818 0.994 Uncertain 7_102722159_G->A 7 102722159 102722159 G A snp 340.78 1/1 27 9 0 9 1.0 intronic rs59807000 ARMC10 AU NM_001161012 exon2 c.8409-1969G>A 0.863818 0.994 Uncertain 7_102722505_G->A 7 102722505 102722505 G A snp 4501.77 1/1 99 159 0 159 1.0 intronic rs4729868 ARMC10 AU NM_001161012 exon2 c.8409-1623G>A 0.866813 1 Uncertain 7_102722516_T->C 7 102722516 102722516 T C snp 4044.77 1/1 99 141 0 141 1.0 intronic rs4729869 ARMC10 AU NM_001161012 exon2 c.8409-1612T>C 0.966853 1 Uncertain 7_102724372_A->T 7 102724372 102724372 A T snp 5154.77 1/1 99 191 0 191 1.0 intronic rs4729871 ARMC10 AU NM_001161012 exon2 c.8558+95A>T 0.866813 1 Uncertain 7_102739043_C->T 7 102739043 102739043 C T snp 713.77 0/1 99 84 35 49 0.58 UTR3 rs4729879 ARMC10 AU 0.7296 0.7379 Uncertain 7_102739085_A->G 7 102739085 102739085 A G snp 100.77 0/1 99 28 15 13 0.46 UTR3 rs36110305 ARMC10 AU Uncertain 7_102743893_C->T 7 102743893 102743893 C T snp 225.84 1/1 18 7 0 7 1.0 exonic rs3181009 NAPEPLD AU nonsynonymous SNV NM_001122838 exon5 c.G1165A p.D389N 0.863618 1 0.859637 0.9595 1 0.53 T 0.001 P -0.973 T 0.001 T 0.002 T Pathogenic 7_102755312_T->- 7 102755312 102755312 T - indel 351.73 1/1 39 13 0 13 1.0 intronic rs11332590 NAPEPLD AU NM_001122838 exon2 c.11631-194delT 0.861621 0.998 Uncertain 7_102755330_A->G 7 102755330 102755330 A G snp 1045.77 1/1 81 34 0 34 1.0 intronic rs4729882 NAPEPLD AU NM_001122838 exon2 c.11631-176A>G 0.863618 1 Uncertain 7_102760511_A->C 7 102760511 102760511 A C snp 2169.77 0/1 99 176 89 87 0.49 exonic rs12540583 NAPEPLD AU nonsynonymous SNV NM_001122838 exon3 c.T454G p.S152A 0.167931 0.2768 0.096417 0.1386 0.3026 0.13 T 0.000 P -1.040 T 0.001 T 0.012 T Pathogenic 7_102760722_A->G 7 102760722 102760722 A G snp 506.77 1/1 39 13 0 13 1.0 intronic rs1974715 NAPEPLD AU NM_001122838 exon3 c.16795+52A>G 0.863618 1 0.853840 0.9598 1 Uncertain 7_102760774_A->T 7 102760774 102760774 A T snp 90.28 1/1 9 3 0 3 1.0 intronic rs1558853 NAPEPLD AU NM_001122838 exon3 c.16795+104A>T 0.8752 1 Uncertain 7_102825871_T->C 7 102825871 102825871 T C snp 1858.77 1/1 99 72 0 72 1.0 ncRNA_intronic rs4317507 DPY19L2P2 AU 0.967252 1 0.9891 1 Uncertain 7_102874366_C->T 7 102874366 102874366 C T snp 967.77 1/1 72 25 0 25 1.0 ncRNA_intronic rs3987883 DPY19L2P2 AU 0.907548 1 0.9453 1 Uncertain 7_102944823_G->T 7 102944823 102944823 G T snp 73.77 0/1 99 15 10 5 0.33 intronic PMPCB AU NM_004279 exon6 c.6951-34G>T Uncertain 7_102948040_T->C 7 102948040 102948040 T C snp 1782.77 0/1 99 165 85 80 0.48 splicing rs11489600 PMPCB AU NM_004279 exon7 c.10136-2T>C 0.377796 0.3244 0.493695 0.5465 0.3214 Pathogenic 7_103007949_A->C 7 103007949 103007949 A C snp 2128.77 1/1 99 84 0 84 1.0 exonic rs4520097 PSMC2 AU synonymous SNV NM_002803 exon10 c.A934C p.R312R 0.966254 1 0.971312 0.9907 1 Uncertain 7_103018016_A->G 7 103018016 103018016 A G snp 2402.77 1/1 99 80 0 80 1.0 intronic rs10273883 SLC26A5 AR NM_001167962 exon3 c.3200-29A>G 0.92492 1 0.922190 0.9783 1 Uncertain 7_103019613_A->G 7 103019613 103019613 A G snp 1286.77 1/1 93 50 0 50 1.0 intronic rs12705120 SLC26A5 AR NM_001167962 exon5 c.4844-76A>G 0.980431 1 Uncertain 7_103029915_A->G 7 103029915 103029915 A G snp 843.77 0/1 99 54 23 31 0.57 intronic rs62482415 SLC26A5 AR NM_198999 exon8 c.15026+44A>G 0.134784 0.0804 0.137014 0.1501 0.0641 Uncertain 7_103029920_G->A 7 103029920 103029920 G A snp 510.77 0/1 99 47 28 19 0.4 intronic rs56373660 SLC26A5 AR NM_198999 exon8 c.15026+49G>A 0.0846645 0.1042 0.061818 0.0867 0.1185 Uncertain 7_103033573_T->C 7 103033573 103033573 T C snp 816.77 1/1 60 21 0 21 1.0 intronic rs13240456 SLC26A5 AR NM_001167962 exon10 c.18668+60T>C 0.980232 1 Uncertain 7_103050811_G->A 7 103050811 103050811 G A snp 1524.77 0/1 99 120 58 62 0.52 intronic rs189213864 SLC26A5 AR NM_206885 exon4 c.57495-20G>A 0.000399361 0.002 4.172e-05 0.0006 Uncertain 7_103051781_G->A 7 103051781 103051781 G A snp 1462.77 0/1 99 115 58 57 0.5 intronic rs56305143 SLC26A5 AR NM_206885 exon5 c.58530-85G>A 0.086262 0.1101 Uncertain 7_103053435_A->G 7 103053435 103053435 A G snp 1192.77 0/1 99 96 47 49 0.51 intronic rs7779997 SLC26A5 AR NM_206885 exon6 c.60112-13A>G 0.442692 0.3849 0.398739 0.3150 0.4049 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000041660.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 7_103117328_A->G 7 103117328 103117328 A G snp 50.74 1/1 6 2 0 2 1.0 ncRNA_intronic rs3808045 LOC101927870 AU 0.221446 0.2688 Uncertain 7_103124207_T->C 7 103124207 103124207 T C snp 1479.77 0/1 99 144 78 66 0.46 exonic rs1062831 RELN AR,AD synonymous SNV NM_005045 exon62 c.A10074G p.A3358A 0.231629 0.2659 0.174765 0.1389 0.2726 Uncertain 7_103132301_T->A 7 103132301 103132301 T A snp 83.77 0/1 67 5 2 3 0.6 ncRNA_intronic rs74587625 LOC101927870 AU Uncertain 7_103132355_G->T 7 103132355 103132355 G T snp 433.77 0/1 99 31 16 15 0.48 ncRNA_intronic rs17151558 LOC101927870 AU 0.146166 0.0952 0.140935 0.1438 0.1319 Uncertain 7_103138517_C->G 7 103138517 103138517 C G snp 5050.77 1/1 99 169 0 169 1.0 ncRNA_intronic rs2711885 LOC101927870 AU 0.995607 1 0.990927 0.9870 0.9999 Uncertain 7_103155705_A->G 7 103155705 103155705 A G snp 3192.79 1/1 99 107 0 107 1.0 exonic rs2229864 RELN AR,AD synonymous SNV NM_005045 exon50 c.T8046C p.H2682H 0.648363 0.8353 0.495464 0.4722 0.8038 Uncertain 7_103155944_C->G 7 103155944 103155944 C G snp 810.77 1/1 60 23 0 23 1.0 intronic rs2528862 RELN AR,AD NM_173054 exon15 c.42630+56C>G 0.582069 0.5913 Uncertain 7_103155951_-->AAG 7 103155951 103155951 - AAG indel 761.73 1/1 42 16 0 16 1.0 intronic rs34355022 RELN AR,AD NM_173054 exon15 c.42630+63insAAG 0.580671 0.5893 Uncertain 7_103155977_A->C 7 103155977 103155977 A C snp 341.78 1/1 27 10 0 10 1.0 intronic rs2528863 RELN AR,AD NM_173054 exon15 c.42630+89A>C 0.685503 0.8353 Uncertain 7_103159633_A->G 7 103159633 103159633 A G snp 880.77 1/1 66 24 0 24 1.0 intronic rs3779521 RELN AR,AD NM_173054 exon16 c.46511-136A>G 0.0936502 0.1845 Uncertain 7_103162370_C->T 7 103162370 103162370 C T snp 1376.77 1/1 99 47 0 47 1.0 intronic rs10282605 RELN AR,AD NM_173054 exon17 c.49210-98C>T 0.747604 0.751 Uncertain 7_103175965_C->T 7 103175965 103175965 C T snp 2403.77 1/1 99 84 0 84 1.0 intronic rs362706 RELN AR,AD NM_173054 exon19 c.62673+34C>T 0.710264 0.623 0.756881 0.7396 0.6005 Uncertain 7_103176052_C->T 7 103176052 103176052 C T snp 252.8 1/1 21 7 0 7 1.0 intronic rs362707 RELN AR,AD NM_173054 exon19 c.62673+121C>T 0.586661 0.372 Uncertain 7_103179594_C->T 7 103179594 103179594 C T snp 3500.77 1/1 99 115 0 115 1.0 exonic rs79377093 RELN AR,AD nonsynonymous SNV NM_005045 exon45 c.G7111A p.A2371T 0.00539137 0.0268 0.0024 0.0311 0.82 T 0.996 N -1.030 T 0.312 T 0.271 T Pathogenic 7_103179595_A->G 7 103179595 103179595 A G snp 3578.77 1/1 99 118 0 118 1.0 exonic rs362746 RELN AR,AD synonymous SNV NM_005045 exon45 c.T7110C p.V2370V 0.0621006 0.1974 0.019068 0.0394 0.2180 CLINSIG=non-pathogenic;CLNDBN=not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000127771.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Uncertain 7_103181016_C->T 7 103181016 103181016 C T snp 470.77 1/1 36 13 0 13 1.0 intronic rs2075044 RELN AR,AD NM_173054 exon21 c.67644+114C>T 0.116813 0.1865 Uncertain 7_103207234_T->C 7 103207234 103207234 T C snp 1587.77 0/1 99 143 76 67 0.47 intronic rs362726 RELN AR,AD NM_173054 exon33 c.93948+28T>C 0.473642 0.4702 0.467323 0.4137 0.4744 Uncertain 7_103212590_C->A 7 103212590 103212590 C A snp 765.77 0/1 99 92 56 36 0.39 intronic RELN AR,AD NM_173054 exon34 c.99372-40C>A Uncertain 7_103275803_T->C 7 103275803 103275803 T C snp 413.77 0/1 99 23 10 13 0.57 intronic rs362646 RELN AR,AD NM_173054 exon46 c.162613-68T>C 0.470847 0.4087 Uncertain 7_103389770_C->G 7 103389770 103389770 C G snp 144.77 0/1 99 25 19 6 0.24 intronic rs78776163 RELN AR,AD NM_173054 exon59 c.276614-102C>G 0.0157748 0.0437 Uncertain 7_103557697_A->G 7 103557697 103557697 A G snp 1481.77 1/1 99 41 1 40 0.98 intronic rs711443 RELN AR,AD NM_173054 exon63 c.444374+65A>G 1 1 Uncertain 7_103629803_-->GCCGCC 7 103629803 103629803 - GCCGCC indel 2596.73 1/1 99 67 0 67 1.0 UTR5 rs55656324 RELN AR,AD 0.604233 0.8185 0.0752 0.0295 CLINSIG=unknown;CLNDBN=not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000118137.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Uncertain 7_103824722_C->T 7 103824722 103824722 C T snp 182.9 1/1 15 6 0 6 1.0 intronic rs34556202 ORC5 AU NM_181747 exon3 c.15797+103C>T 0.337859 0.3472 Uncertain 7_103824724_-->A 7 103824724 103824724 - A indel 204.8 1/1 18 6 0 6 1.0 intronic rs11384924 ORC5 AU NM_181747 exon3 c.15797+105insA 0.595647 0.5228 Uncertain 7_103835732_C->T 7 103835732 103835732 C T snp 1343.77 1/1 58 51 2 49 0.96 intronic rs2307400 ORC5 AU NM_181747 exon5 c.26880+30C>T 0.601038 0.5258 0.708474 0.6760 0.4818 Uncertain 7_103838120_A->C 7 103838120 103838120 A C snp 1291.77 1/1 93 52 0 52 1.0 intronic rs13238183 ORC5 AU NM_181747 exon6 c.29350-52A>C 0.278155 0.2718 0.400263 Uncertain 7_103844557_T->G 7 103844557 103844557 T G snp 171.9 1/1 15 5 0 5 1.0 intronic rs2245659 ORC5 AU NM_181747 exon8 c.35767-32T>G 0.318291 0.2718 0.429788 0.4649 0.3153 Uncertain 7_103969195_AGGAGG->- 7 103969195 103969200 AGGAGG - indel 1857.73 0/1 99 58 32 26 0.45 UTR5 rs71794813 LHFPL3 AU 0.175000 0.2553 0.46 Uncertain 7_104110392_C->T 7 104110392 104110392 C T snp 3039.77 1/1 99 99 0 99 1.0 intronic rs4727601 LHFPL3 AU NM_199000 exon1 c.445+140720C>T 0.99381 1 Uncertain 7_104263425_T->C 7 104263425 104263425 T C snp 351.78 1/1 27 13 0 13 1.0 intronic rs1073012 LHFPL3 AU NM_199000 exon2 c.407894-113696T>C 0.952875 1 0.9971 1 Uncertain 7_104377453_A->C 7 104377453 104377453 A C snp 682.77 1/1 51 20 0 20 1.0 intronic rs4236573 LHFPL3 AU NM_199000 exon2 c.408131+95A>C 0.688099 0.8929 Uncertain 7_104681214_G->A 7 104681214 104681214 G A snp 858.77 1/1 63 24 0 24 1.0 intronic rs10264273 KMT2E AU 0.273762 0.5615 Uncertain 7_104704314_G->C 7 104704314 104704314 G C snp 720.77 1/1 54 20 0 20 1.0 intronic rs7805792 KMT2E AU NM_018682 exon4 c.22628+287G>C 0.313099 0.5625 Uncertain 7_104707360_C->T 7 104707360 104707360 C T snp 524.77 1/1 39 17 0 17 1.0 intronic rs12705297 KMT2E AU NM_018682 exon5 c.25855+106C>T 0.3127 0.5595 Uncertain 7_104713915_T->C 7 104713915 104713915 T C snp 139.03 1/1 12 4 0 4 1.0 intronic rs999895 KMT2E AU NM_018682 exon6 c.32666-150T>C 0.363618 0.5615 Uncertain 7_104715018_A->G 7 104715018 104715018 A G snp 210.84 1/1 18 7 0 7 1.0 intronic rs9641341 KMT2E AU NM_018682 exon7 c.33690-71A>G 0.387181 0.6329 Uncertain 7_104717320_TGTGTG->- 7 104717320 104717325 TGTGTG - indel 2565.73 ./1 99 48 1 47 0.98 intronic KMT2E AU NM_018682 exon9 c.36010-89_36010-84delTGTGTG Uncertain 7_104717320_TGTG->- 7 104717320 104717323 TGTG - indel 2565.73 ./1 99 48 1 47 0.98 intronic rs572471997 KMT2E AU NM_018682 exon9 c.36010-89_36010-86delTGTG 0.785343 0.9335 Uncertain 7_104717517_C->T 7 104717517 104717517 C T snp 4221.77 1/1 99 161 0 161 1.0 exonic rs2240455 KMT2E AU synonymous SNV NM_182931 exon10 c.C876T p.Y292Y 0.383187 0.6319 0.258419 0.2282 0.6392 Uncertain 7_104742054_C->T 7 104742054 104742054 C T snp 707.77 1/1 51 26 0 26 1.0 intronic rs11976329 KMT2E AU NM_018682 exon15 c.60637+18C>T 0.367412 0.5575 0.259499 0.2332 0.5781 Uncertain 7_104745818_G->A 7 104745818 104745818 G A snp 561.77 1/1 42 16 0 16 1.0 intronic rs2299298 KMT2E AU NM_018682 exon17 c.64486-67G>A 0.669129 0.9286 Uncertain 7_104746523_T->- 7 104746523 104746523 T - indel 1060.73 1/1 81 28 0 28 1.0 intronic rs11340728 KMT2E AU NM_018682 exon18 c.65051+73delT 0.38119 0.628 Uncertain 7_104748473_ATTTAGTT->- 7 104748473 104748480 ATTTAGTT - indel 488.73 0/1 99 8 2 6 0.75 intronic rs66673047 KMT2E AU NM_018682 exon21 c.66973+101_66973+108delATTTAGTT Uncertain 7_104751419_C->T 7 104751419 104751419 C T snp 2682.77 1/1 99 88 0 88 1.0 intronic rs2299299 KMT2E AU NM_018682 exon25 c.69916+104C>T 0.363618 0.5546 Uncertain 7_104751464_TT->- 7 104751464 104751465 TT - indel 429.73 0/1 99 34 20 14 0.41 intronic KMT2E AU NM_018682 exon25 c.69916+149_69916+150delTT Uncertain 7_104753240_A->C 7 104753240 104753240 A C snp 169.77 0/1 99 75 49 26 0.35 exonic rs780033817 KMT2E AU synonymous SNV NM_182931 exon27 c.A5037C p.P1679P 0.1748 0.1693 Uncertain 7_104753246_A->C 7 104753246 104753246 A C snp 304.77 0/1 99 74 47 27 0.36 exonic rs780916307 KMT2E AU synonymous SNV NM_182931 exon27 c.A5043C p.P1681P 0.2272 0.2470 Uncertain 7_104845961_CTCTCACA->- 7 104845961 104845968 CTCTCACA - indel 2577.73 0/1 37 54 19 35 0.65 intronic SRPK2 AU NM_182691 exon14 c.85948+1729_85948+1736delCTCTCACA Uncertain 7_104845965_CACA->- 7 104845965 104845968 CACA - indel 4584.73 ./1 99 58 0 58 1.0 intronic SRPK2 AU NM_182691 exon14 c.85948+1733_85948+1736delCACA Uncertain 7_104845965_CACACACACA->- 7 104845965 104845974 CACACACACA - indel 4584.73 ./1 99 58 0 58 1.0 intronic rs745963971 SRPK2 AU NM_182691 exon14 c.85948+1733_85948+1742delCACACACACA Uncertain 7_105108632_G->A 7 105108632 105108632 G A snp 473.77 1/1 36 12 0 12 1.0 intronic rs2692430 PUS7 AU NM_019042 exon5 c.10547-151G>A 0.695887 0.7966 Uncertain 7_105146359_C->G 7 105146359 105146359 C G snp 332.77 0/1 99 32 19 13 0.41 intronic rs818471 PUS7 AU NM_019042 exon13 c.48165-42C>G 0.259984 0.1716 0.243923 0.2053 0.1334 Uncertain 7_105146593_-->T 7 105146593 105146593 - T indel 5733.73 1/1 99 165 0 165 1.0 intronic rs11421080 PUS7 AU NM_019042 exon14 c.48399-42insT 0.904752 0.9167 0.903548 0.8853 0.9167 Uncertain 7_105172685_G->C 7 105172685 105172685 G C snp 224.77 0/1 99 20 11 9 0.45 UTR5 rs818620 RINT1 AU 0.259185 0.0615 Uncertain 7_105173029_T->C 7 105173029 105173029 T C snp 402.77 0/1 99 33 18 15 0.45 intronic rs818621 RINT1 AU NM_021930 exon1 c.42+225T>C 0.258187 0.0595 Uncertain 7_105173502_G->A 7 105173502 105173502 G A snp 776.77 0/1 99 45 18 27 0.6 intronic rs187788796 RINT1 AU NM_021930 exon2 c.554+186G>A 0.000399361 0.001 Uncertain 7_105176896_G->T 7 105176896 105176896 G T snp 125.77 0/1 64 8 2 6 0.75 intronic rs1721490 RINT1 AU NM_021930 exon3 c.4249-115G>T 0.0611022 0.0367 Uncertain 7_105183046_C->T 7 105183046 105183046 C T snp 2613.77 0/1 99 247 127 120 0.49 exonic rs79893877 RINT1 AU synonymous SNV NM_021930 exon4 c.C465T p.I155I 0.0139776 0.0367 0.002307 0.0094 0.0336 Uncertain 7_105183180_T->C 7 105183180 105183180 T C snp 333.77 0/1 99 23 12 11 0.48 intronic rs79039035 RINT1 AU NM_021930 exon4 c.10334+84T>C 0.0125799 0.0367 Uncertain 7_105205634_G->A 7 105205634 105205634 G A snp 246.77 0/1 99 19 10 9 0.47 ncRNA_exonic rs118063235 EFCAB10 AU 0.0115815 0.0367 Uncertain 7_105250905_G->A 7 105250905 105250905 G A snp 2477.77 1/1 99 86 0 86 1.0 intronic rs940370 ATXN7L1 AU NM_020725 exon2 c.2677-70G>A 0.970647 1 Uncertain 7_105258149_G->A 7 105258149 105258149 G A snp 408.77 0/1 99 29 14 15 0.52 intronic rs117933980 ATXN7L1 AU NM_020725 exon4 c.12348-2497G>A 0.0227636 0.0258 Uncertain 7_105621512_G->T 7 105621512 105621512 G T snp 1554.77 0/1 99 151 84 67 0.44 exonic rs193795 CDHR3 AU synonymous SNV NM_152750 exon3 c.G348T p.L116L 0.458067 0.4901 0.393054 0.4749 0.4895 Uncertain 7_105662461_C->A 7 105662461 105662461 C A snp 180.9 1/1 15 5 0 5 1.0 intronic rs2072161 CDHR3 AU NM_152750 exon14 c.58879-182C>A 0.221446 0.3472 Uncertain 7_105671267_T->C 7 105671267 105671267 T C snp 3215.74 1/1 99 113 0 113 1.0 exonic rs10270308 CDHR3 AU synonymous SNV NM_152750 exon18 c.T2334C p.D778D 0.21266 0.3621 0.101584 0.0944 0.3951 Uncertain 7_105733037_T->C 7 105733037 105733037 T C snp 35.74 1/1 6 2 0 2 1.0 intronic rs4434555 SYPL1 AU NM_182715 exon2 c.1144-357T>C 0.503994 0.7758 0.6837 0.8056 0.13 T 0.0 P -0.981 T Uncertain 7_105733619_G->A 7 105733619 105733619 G A snp 2304.77 1/1 99 80 0 80 1.0 intronic rs176486 SYPL1 AU NM_182715 exon2 c.1333+36G>A 0.986422 1 0.983053 0.9848 1 Uncertain 7_105738368_T->C 7 105738368 105738368 T C snp 641.77 0/1 99 35 14 21 0.6 intronic rs12705333 SYPL1 AU NM_182715 exon3 c.6093+25T>C 0.326078 0.5198 0.313903 0.4172 0.5249 Uncertain 7_105739546_A->G 7 105739546 105739546 A G snp 247.77 0/1 99 25 15 10 0.4 intronic rs12540052 SYPL1 AU NM_182715 exon4 c.7353-57A>G 0.266374 0.251 Uncertain 7_105752555_G->A 7 105752555 105752555 G A snp 344.77 0/1 99 29 14 15 0.52 intronic rs2240473 SYPL1 AU NM_182715 exon5 c.20335-30G>A 0.530351 0.4881 0.516602 0.5479 0.5582 Uncertain 7_105752691_G->A 7 105752691 105752691 G A snp 711.77 0/1 99 58 26 32 0.55 UTR5 rs176501 SYPL1 AU 0.183506 0.1637 0.187404 0.2355 0.1694 Uncertain 7_105752820_G->A 7 105752820 105752820 G A snp 232.77 0/1 99 25 16 9 0.36 intronic rs176502 SYPL1 AU NM_182715 exon5 c.20541+29G>A 0.529153 0.4881 Uncertain 7_105903904_T->C 7 105903904 105903904 T C snp 2600.77 0/1 99 239 107 132 0.55 exonic rs2302559 NAMPT AU synonymous SNV NM_005746 exon7 c.A903G p.S301S 0.704872 0.9008 0.604830 0.6793 0.9157 Uncertain 7_105904150_A->G 7 105904150 105904150 A G snp 1287.77 0/1 99 91 47 44 0.48 intronic rs4730153 NAMPT AU NM_005746 exon5 c.12535+87A>G 0.560703 0.879 Uncertain 7_105909890_G->A 7 105909890 105909890 G A snp 80.77 0/1 28 4 1 3 0.75 intronic rs2072457 NAMPT AU NM_005746 exon7 c.18230+132G>A 0.256589 0.4782 Uncertain 7_105910666_C->T 7 105910666 105910666 C T snp 233.77 0/1 99 16 7 9 0.56 intronic rs6947766 NAMPT AU NM_005746 exon7 c.18230+908C>T 0.254992 0.4742 Uncertain 7_105925381_C->A 7 105925381 105925381 C A snp 959.77 0/1 99 82 34 48 0.59 UTR5 rs375661670 NAMPT AU 0.00199681 0.0089 0.000311 0.0008 0.0107 Uncertain 7_106508978_A->G 7 106508978 106508978 A G snp 7155.77 1/1 99 244 1 243 1.0 exonic rs849389 PIK3CG AU synonymous SNV NM_002649 exon2 c.A972G p.P324P 0.939497 0.995 0.917423 0.9490 0.9983 Uncertain 7_106508987_T->C 7 106508987 106508987 T C snp 7008.77 1/1 99 247 0 247 1.0 exonic rs849390 PIK3CG AU synonymous SNV NM_002649 exon2 c.T981C p.D327D 0.940895 0.997 0.918730 0.9502 0.9988 Uncertain 7_106510076_A->G 7 106510076 106510076 A G snp 660.77 0/1 99 49 24 25 0.51 intronic rs1526083 PIK3CG AU NM_002649 exon2 c.1995+75A>G 0.387979 0.4792 Uncertain 7_106513011_C->T 7 106513011 106513011 C T snp 7201.77 1/1 99 249 0 249 1.0 exonic rs1129293 PIK3CG AU synonymous SNV NM_002649 exon3 c.C2025T p.S675S 0.253794 0.2897 0.238890 0.3104 0.3369 Uncertain 7_106519943_T->C 7 106519943 106519943 T C snp 4894.77 1/1 99 183 1 182 0.99 intronic rs849370 PIK3CG AU NM_002649 exon6 c.11957-20T>C 0.940695 0.997 0.920806 0.9484 0.9988 Uncertain 7_106685448_G->T 7 106685448 106685448 G T snp 1056.77 0/1 99 84 38 46 0.55 exonic rs75385144 PRKAR2B AU synonymous SNV NM_002736 exon1 c.G96T p.A32A 0.286342 0.3433 0.220555 0.4042 0.4412 Uncertain 7_106768839_-->AC 7 106768839 106768839 - AC indel 1902.73 0/1 99 121 75 46 0.38 intronic rs10693134 PRKAR2B AU NM_002736 exon4 c.83388+99insAC 0.505591 0.4851 Uncertain 7_106781445_G->A 7 106781445 106781445 G A snp 728.77 0/1 99 79 48 31 0.39 intronic rs2302453 PRKAR2B AU NM_002736 exon5 c.96046+47G>A 0.341653 0.3958 0.349762 0.4401 0.3893 Uncertain 7_106786952_T->C 7 106786952 106786952 T C snp 1664.77 1/1 99 60 0 60 1.0 intronic rs3729876 PRKAR2B AU NM_002736 exon6 c.101554+46T>C 0.880192 0.9157 0.846840 0.8272 0.9202 Uncertain 7_106787065_T->G 7 106787065 106787065 T G snp 135.03 1/1 12 4 0 4 1.0 intronic rs3729877 PRKAR2B AU NM_002736 exon6 c.101554+159T>G 0.869808 0.9157 Uncertain 7_106791343_A->G 7 106791343 106791343 A G snp 994.77 0/1 99 83 37 46 0.55 intronic rs372387699 PRKAR2B AU NM_002736 exon7 c.106014-23A>G 0.000154 Uncertain 7_106922004_T->A 7 106922004 106922004 T A snp 68.77 0/1 97 8 5 3 0.38 intronic rs6954422 COG5 AU NM_001161520 exon8 c.70878+160T>A 0.640375 0.5913 Uncertain 7_106965039_C->T 7 106965039 106965039 C T snp 44.78 0/1 27 4 2 2 0.5 intronic rs6466164 COG5 AU NM_001161520 exon11 c.114000+73C>T 0.585863 0.4623 Uncertain 7_107002806_A->G 7 107002806 107002806 A G snp 996.77 0/1 99 105 58 47 0.45 exonic rs2269970 COG5 AU nonsynonymous SNV NM_006348 exon9 c.T988C p.F330L 0.648363 0.6429 0.654698 0.5508 0.6564 1 T 0.004 P -0.954 T 0.0 T 0.0 T CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000081393.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 7_107114400_-->T 7 107114400 107114400 - T indel 425.73 1/1 45 15 0 15 1.0 intronic rs11453718 COG5 AU NM_001161520 exon16 c.316715-53281insT 0.9998 1 Uncertain 7_107194911_C->A 7 107194911 107194911 C A snp 432.77 0/1 99 25 12 13 0.52 intronic rs2520270 COG5 AU NM_001161520 exon19 c.343821+124C>A 0.608826 0.6339 Uncertain 7_107208118_T->C 7 107208118 107208118 T C snp 335.77 0/1 99 30 18 12 0.4 intronic rs1468335 DUS4L AU NM_181581 exon3 c.116+487T>C 0.378195 0.3681 Uncertain 7_107208250_T->C 7 107208250 107208250 T C snp 2544.77 1/1 99 100 0 100 1.0 intronic rs1468336 DUS4L AU NM_181581 exon3 c.116+619T>C 0.758986 0.6855 0.7719 0.5938 Uncertain 7_107216738_C->T 7 107216738 107216738 C T snp 1034.77 1/1 75 31 0 31 1.0 intronic rs10276604 DUS4L AU NM_181581 exon7 c.9295-72C>T 0.771565 0.6825 Uncertain 7_107217069_G->- 7 107217069 107217069 G - indel 2957.73 1/1 99 92 0 92 1.0 intronic rs3839819 DUS4L AU NM_181581 exon7 c.9522+32delG 0.79972 0.6835 0.803754 0.7844 0.6802 Uncertain 7_107218033_T->C 7 107218033 107218033 T C snp 182.77 0/1 99 14 7 7 0.5 UTR3 rs711442 DUS4L AU 0.363818 0.369 0.331763 0.4529 0.3517 Uncertain 7_107255548_T->C 7 107255548 107255548 T C snp 4141.77 1/1 99 122 0 122 1.0 intronic rs3801944 BCAP29 AU NM_001008405 exon7 c.32960+1371T>C 0.737819 0.6825 Uncertain 7_107262558_T->A 7 107262558 107262558 T A snp 180.9 1/1 15 5 0 5 1.0 UTR3 rs2894475 BCAP29 AU 0.741414 0.6776 Uncertain 7_107303622_A->T 7 107303622 107303622 A T snp 2038.77 1/1 99 65 0 65 1.0 intronic rs2248464 SLC26A4 AR NM_000441 exon3 c.1654-118A>T 0.764577 0.7133 Uncertain 7_107303628_C->T 7 107303628 107303628 C T snp 702.77 0/1 99 76 45 31 0.41 intronic rs2248465 SLC26A4 AR NM_000441 exon3 c.1654-112C>T 0.658546 0.4782 Uncertain 7_107324113_G->T 7 107324113 107324113 G T snp 129.03 1/1 12 4 0 4 1.0 intronic rs2395911 SLC26A4 AR NM_000441 exon8 c.21896+131G>T 0.707069 0.6448 Uncertain 7_107334972_T->C 7 107334972 107334972 T C snp 2770.77 0/1 99 207 91 116 0.56 intronic rs17154326 SLC26A4 AR NM_000441 exon11 c.32839+47T>C 0.0245607 0.1181 0.000615 0.0082 0.1105 Uncertain 7_107344566_C->T 7 107344566 107344566 C T snp 94.28 1/1 9 3 0 3 1.0 intronic rs6955309 SLC26A4 AR NM_000441 exon18 c.42689-209C>T 0.477636 0.6419 Uncertain 7_107384849_C->T 7 107384849 107384849 C T snp 717.77 1/1 54 21 0 21 1.0 intronic rs756872 CBLL1 AU NM_024814 exon1 c.13+228C>T 0.44349 0.628 Uncertain 7_107414419_A->G 7 107414419 107414419 A G snp 5985.77 1/1 99 235 1 234 1.0 exonic rs41669 SLC26A3 AR synonymous SNV NM_000111 exon17 c.T1953C p.L651L 0.998003 0.999 0.991619 0.9936 0.9998 Uncertain 7_107420354_C->T 7 107420354 107420354 C T snp 807.77 0/1 99 59 31 28 0.47 intronic rs10247487 SLC26A3 AR NM_000111 exon10 c.13909+146C>T 0.295527 0.3075 Uncertain 7_107423254_C->T 7 107423254 107423254 C T snp 2080.77 0/1 99 157 72 85 0.54 exonic rs3735605 SLC26A3 AR synonymous SNV NM_000111 exon11 c.G1299A p.A433A 0.150958 0.2758 0.142319 0.1581 0.2688 Uncertain 7_107531832_-->C 7 107531832 107531832 - C indel 2296.73 1/1 99 60 0 60 1.0 intronic rs11373214 DLD AR NM_000108 exon1 c.39+98insC 0.999601 1 Uncertain 7_107542662_T->C 7 107542662 107542662 T C snp 50.74 1/1 6 2 0 2 1.0 intronic rs10250718 DLD AR NM_000108 exon4 c.11074-107T>C 0.716254 0.8591 Uncertain 7_107545104_C->T 7 107545104 107545104 C T snp 793.77 0/1 99 66 34 32 0.48 intronic rs117348839 DLD AR NM_001289750 exon4 c.1450-298C>T 0.000399361 0.002 8.145e-05 0 Uncertain 7_107545799_T->C 7 107545799 107545799 T C snp 3142.77 1/1 99 110 0 110 1.0 intronic rs10263341 DLD AR NM_001289750 exon5 c.1853-6T>C 0.716054 0.8591 0.648516 0.6182 0.8489 CLINSIG=non-pathogenic;CLNDBN=not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000124689.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Uncertain 7_107546937_A->G 7 107546937 107546937 A G snp 1581.77 1/1 99 53 0 53 1.0 intronic rs10281520 DLD AR NM_001289750 exon6 c.2861+124A>G 0.404553 0.5179 Uncertain 7_107547002_G->C 7 107547002 107547002 G C snp 176.9 1/1 15 5 0 5 1.0 intronic rs10252490 DLD AR NM_001289750 exon6 c.2861+189G>C 0.404153 0.5179 Uncertain 7_107559732_G->T 7 107559732 107559732 G T snp 316.78 1/1 24 11 0 11 1.0 UTR3 rs17154615 DLD AR 0.20028 0.5109 0.080803 0.1597 0.5048 Uncertain 7_107564366_T->G 7 107564366 107564366 T G snp 3322.77 1/1 99 131 1 130 0.99 UTR3 rs7561 LAMB1 AR 0.71266 0.8611 0.644472 0.6142 0.8462 Uncertain 7_107564539_G->A 7 107564539 107564539 G A snp 1163.77 1/1 51 38 1 37 0.97 intronic rs3213673 LAMB1 AR NM_002291 exon1 c.137+7G>A 0.452676 0.4931 0.4755 0.6529 Uncertain 7_107564542_G->T 7 107564542 107564542 G T snp 1030.77 1/1 39 36 1 35 0.97 intronic rs3213674 LAMB1 AR NM_002291 exon1 c.137+10G>T 0.499601 0.5407 0.4947 0.6607 Uncertain 7_107577390_T->G 7 107577390 107577390 T G snp 99.28 1/1 9 3 0 3 1.0 intronic rs10249141 LAMB1 AR NM_002291 exon9 c.13142-147T>G 0.307109 0.5248 Uncertain 7_107580839_A->G 7 107580839 107580839 A G snp 817.77 1/1 60 25 0 25 1.0 intronic rs2158836 LAMB1 AR NM_002291 exon10 c.16408+36A>G 0.684904 0.8621 0.625250 0.6316 0.8520 Uncertain 7_107592403_G->A 7 107592403 107592403 G A snp 141.03 1/1 12 4 0 4 1.0 intronic rs2072210 LAMB1 AR NM_002291 exon12 c.28058-50G>A 0.391773 0.4772 0.323434 0.2937 0.5021 Uncertain 7_107593989_T->C 7 107593989 107593989 T C snp 2202.77 1/1 99 74 0 74 1.0 exonic rs20556 LAMB1 AR nonsynonymous SNV NM_002291 exon22 c.A3065G p.Q1022R 0.695487 0.8482 0.652314 0.6447 0.8356 1 T 1.000 P -0.952 T 0.0 T 0.002 T Pathogenic 7_107604818_T->G 7 107604818 107604818 T G snp 208.84 1/1 18 6 0 6 1.0 intronic rs1548638 LAMB1 AR NM_002291 exon21 c.40601-178T>G 0.609425 0.7143 Uncertain 7_107613379_G->A 7 107613379 107613379 G A snp 2374.77 1/1 99 87 0 87 1.0 intronic rs2701034 LAMB1 AR NM_002291 exon22 c.49041-57G>A 0.665535 0.751 0.605344 Uncertain 7_107621078_T->C 7 107621078 107621078 T C snp 1503.77 0/1 99 132 62 70 0.53 exonic rs140773514 LAMB1 AR synonymous SNV NM_002291 exon8 c.A855G p.G285G 0.00279553 0.0099 0.0014 0.0089 Uncertain 7_107643521_T->G 7 107643521 107643521 T G snp 44.74 1/1 6 2 0 2 1.0 intronic rs2395935 LAMB1 AR NM_002291 exon34 c.79160-34T>G 0.896965 0.995 Uncertain 7_107738819_A->G 7 107738819 107738819 A G snp 40.77 0/1 69 49 43 6 0.12 intronic rs150965342 LAMB4 AU NM_007356 exon24 c.74364-28A>G 0.0694 0.0315 Uncertain 7_107738828_A->C 7 107738828 107738828 A C snp 52.77 0/1 81 49 43 6 0.12 intronic rs201245665 LAMB4 AU NM_007356 exon24 c.74364-19A>C 0.0652 0.0289 Uncertain 7_107738834_G->C 7 107738834 107738834 G C snp 36.77 0/1 65 49 43 6 0.12 intronic rs202219174 LAMB4 AU NM_007356 exon24 c.74364-13G>C 0.0582 0.0258 Uncertain 7_107738836_T->C 7 107738836 107738836 T C snp 370.77 0/1 99 51 35 16 0.31 intronic rs6974722 LAMB4 AU NM_007356 exon24 c.74364-11T>C 0.30631 0.2649 0.329771 0.3286 0.2063 Uncertain 7_107738882_G->A 7 107738882 107738882 G A snp 427.77 0/1 99 50 32 18 0.36 exonic rs1735499 LAMB4 AU synonymous SNV NM_007356 exon11 c.C1326T p.Y442Y 0.30651 0.2649 0.351069 0.3468 0.2193 Uncertain 7_107738948_G->A 7 107738948 107738948 G A snp 431.77 0/1 99 40 18 22 0.55 exonic rs451252 LAMB4 AU synonymous SNV NM_007356 exon11 c.C1260T p.A420A 0.305711 0.2609 0.350915 0.3457 0.2160 Uncertain 7_107743409_A->G 7 107743409 107743409 A G snp 499.77 0/1 99 46 27 19 0.41 intronic rs401487 LAMB4 AU NM_007356 exon25 c.79005-79A>G 0.346046 0.2639 Uncertain 7_107743664_A->G 7 107743664 107743664 A G snp 1061.77 0/1 99 86 40 46 0.53 exonic rs402113 LAMB4 AU synonymous SNV NM_007356 exon10 c.T1005C p.N335N 0.302915 0.2639 0.346723 0.3929 0.3021 Uncertain 7_107744759_A->G 7 107744759 107744759 A G snp 107.77 0/1 99 7 3 4 0.57 intronic rs411396 LAMB4 AU NM_007356 exon26 c.80460-184A>G 0.377796 0.4008 Uncertain 7_107746214_T->G 7 107746214 107746214 T G snp 720.77 0/1 99 37 14 23 0.62 intronic rs430628 LAMB4 AU NM_007356 exon27 c.81778-47T>G 0.352835 0.4008 0.037444 0.3880 0.3820 Uncertain 7_107746215_G->C 7 107746215 107746215 G C snp 722.77 0/1 99 38 15 23 0.61 intronic rs370533 LAMB4 AU NM_007356 exon27 c.81778-46G>C 0.297125 0.2649 0.013148 0.3445 0.2186 Uncertain 7_107746246_T->C 7 107746246 107746246 T C snp 1090.77 0/1 99 73 30 43 0.59 intronic rs370495 LAMB4 AU NM_007356 exon27 c.81778-15T>C 0.377796 0.4008 0.387360 0.3969 0.3811 Uncertain 7_107746253_A->G 7 107746253 107746253 A G snp 1300.77 0/1 99 82 32 50 0.61 intronic rs420753 LAMB4 AU NM_007356 exon27 c.81778-8A>G 0.352835 0.4008 0.361987 0.3887 0.3814 Uncertain 7_107747928_A->C 7 107747928 107747928 A C snp 875.77 0/1 99 81 40 41 0.51 intronic rs446800 LAMB4 AU NM_007356 exon29 c.83592-147A>C 0.353035 0.4008 Uncertain 7_107747937_G->A 7 107747937 107747937 G A snp 870.77 0/1 99 75 36 39 0.52 intronic rs401066 LAMB4 AU NM_007356 exon29 c.83592-138G>A 0.352835 0.4008 Uncertain 7_107748337_G->A 7 107748337 107748337 G A snp 790.77 0/1 99 57 27 30 0.53 intronic rs402264 LAMB4 AU NM_007356 exon29 c.83781+73G>A 0.352835 0.4008 Uncertain 7_107749411_A->T 7 107749411 107749411 A T snp 56.74 1/1 6 2 0 2 1.0 intronic rs73197622 LAMB4 AU NM_007356 exon30 c.85132-204A>T 0.133187 0.1538 Uncertain 7_107791018_G->C 7 107791018 107791018 G C snp 298.78 1/1 24 11 0 11 1.0 intronic rs443552 NRCAM AU NM_001193583 exon1 c.238+426G>C 0.579273 0.8373 Uncertain 7_107800953_A->G 7 107800953 107800953 A G snp 2530.77 1/1 99 85 0 85 1.0 intronic rs12670313 NRCAM AU NM_001193583 exon3 c.10583+16A>G 0.580671 0.8373 0.583654 0.6824 0.8483 Uncertain 7_107808639_A->G 7 107808639 107808639 A G snp 1126.77 1/1 84 35 0 35 1.0 intronic rs12537654 NRCAM AU NM_001037132 exon5 c.18367-82A>G 0.579273 0.8502 Uncertain 7_107808967_A->C 7 107808967 107808967 A C snp 309.78 1/1 24 8 0 8 1.0 intronic rs381828 NRCAM AU NM_001037132 exon5 c.18493+120A>C 0.683107 0.8502 Uncertain 7_107815569_G->T 7 107815569 107815569 G T snp 141.03 1/1 12 4 0 4 1.0 intronic rs377348 NRCAM AU NM_001193583 exon4 c.25412-197G>T 0.925719 0.999 Uncertain 7_107815858_T->A 7 107815858 107815858 T A snp 4889.77 1/1 99 175 0 175 1.0 intronic rs11983886 NRCAM AU NM_001193583 exon4 c.25448+56T>A 0.655751 0.8849 0.639728 Uncertain 7_107818630_G->A 7 107818630 107818630 G A snp 847.77 0/1 99 55 25 30 0.55 intronic rs140860964 NRCAM AU NM_001193583 exon6 c.28203+73G>A 0.000199681 0.001 Uncertain 7_107818851_T->C 7 107818851 107818851 T C snp 3160.77 1/1 99 106 1 105 0.99 intronic rs428459 NRCAM AU NM_001193583 exon6 c.28203+294T>C 0.754393 0.9415 0.7832 0.9421 0.0 P Uncertain 7_107820911_G->T 7 107820911 107820911 G T snp 3271.77 1/1 99 112 0 112 1.0 intronic rs414077 NRCAM AU NM_001193583 exon7 c.30517+40G>T 0.914936 0.999 0.905813 0.9156 0.9996 Uncertain 7_107822198_A->G 7 107822198 107822198 A G snp 2236.77 1/1 99 73 0 73 1.0 intronic rs2839850 NRCAM AU NM_001193583 exon8 c.31911-67A>G 0.847644 0.999 Uncertain 7_107822396_G->A 7 107822396 107822396 G A snp 2620.77 1/1 99 86 0 86 1.0 intronic rs2142325 NRCAM AU NM_001193583 exon8 c.32027+15G>A 0.688299 0.9554 0.657927 0.7517 0.9712 Uncertain 7_107824678_A->G 7 107824678 107824678 A G snp 3763.77 1/1 99 138 0 138 1.0 intronic rs6970656 NRCAM AU NM_001193583 exon10 c.34330-6A>G 0.688698 0.9554 0.658235 0.7487 0.9712 Uncertain 7_107824889_C->G 7 107824889 107824889 C G snp 3350.77 1/1 99 122 0 122 1.0 exonic rs401433 NRCAM AU synonymous SNV NM_001037132 exon18 c.G2205C p.A735A 0.689097 0.9554 0.658542 0.7488 0.9712 Uncertain 7_107825108_T->C 7 107825108 107825108 T C snp 344.78 1/1 27 9 0 9 1.0 intronic rs427909 NRCAM AU NM_001193583 exon11 c.34704+50T>C 0.688698 0.9554 0.657814 0.7550 0.9711 Uncertain 7_107831520_T->C 7 107831520 107831520 T C snp 99.28 1/1 9 3 0 3 1.0 intronic rs6962066 NRCAM AU NM_001193583 exon13 c.41343-177T>C 0.694289 0.9524 Uncertain 7_107834613_G->C 7 107834613 107834613 G C snp 7483.77 1/1 99 248 0 248 1.0 exonic rs6958498 NRCAM AU nonsynonymous SNV NM_001037132 exon14 c.C1633G p.P545A 0.698882 0.8839 0.687221 0.7562 0.8869 0.45 T 1.000 P -1.097 T 0.282 T 0.305 T Pathogenic 7_107834624_T->C 7 107834624 107834624 T C snp 7405.77 1/1 99 250 0 250 1.0 intronic rs6978315 NRCAM AU NM_001193583 exon15 c.44261+9T>C 0.698882 0.8839 0.687221 0.7562 0.8869 Uncertain 7_107834734_C->T 7 107834734 107834734 C T snp 6723.77 1/1 99 250 0 250 1.0 exonic rs404287 NRCAM AU synonymous SNV NM_001037132 exon13 c.G1602A p.A534A 0.697684 0.88 0.687221 0.7559 0.8831 Uncertain 7_107836118_T->- 7 107836118 107836118 T - indel 1215.73 1/1 99 34 0 34 1.0 intronic rs35825013 NRCAM AU NM_001193583 exon17 c.45850-86delT 0.699281 0.8859 Uncertain 7_107838240_C->A 7 107838240 107838240 C A snp 46.74 1/1 6 2 0 2 1.0 intronic rs397179 NRCAM AU NM_001193583 exon18 c.48045-159C>A 0.802915 0.88 Uncertain 7_107838464_G->T 7 107838464 107838464 G T snp 2155.77 1/1 99 83 0 83 1.0 exonic rs381318 NRCAM AU synonymous SNV NM_001037132 exon11 c.C1287A p.V429V 0.661342 0.88 0.627249 0.7068 0.8827 Uncertain 7_107838637_C->A 7 107838637 107838637 C A snp 139.03 1/1 12 4 0 4 1.0 intronic rs388557 NRCAM AU NM_001193583 exon18 c.48189+94C>A 0.931909 0.999 Uncertain 7_107849908_G->A 7 107849908 107849908 G A snp 4753.77 1/1 99 167 0 167 1.0 exonic rs1269621 NRCAM AU synonymous SNV NM_001037132 exon9 c.C1032T p.N344N 0.584864 0.8155 0.521221 0.5528 0.8280 Uncertain 7_107872816_G->A 7 107872816 107872816 G A snp 1488.77 1/1 99 51 0 51 1.0 exonic rs2072546 NRCAM AU synonymous SNV NM_001037132 exon4 c.C381T p.N127N 0.213059 0.5466 0.100877 0.1966 0.5818 Uncertain 7_107874906_G->A 7 107874906 107874906 G A snp 305.78 1/1 24 10 1 9 0.9 intronic rs1269632 NRCAM AU NM_001193583 exon25 c.84672-120G>A 0.84385 0.9812 Uncertain 7_107875170_T->C 7 107875170 107875170 T C snp 667.77 1/1 51 28 1 27 0.96 intronic rs1269633 NRCAM AU NM_001193583 exon25 c.84778+38T>C 0.844649 0.9812 0.810674 0.8413 0.9883 Uncertain 7_107880612_A->G 7 107880612 107880612 A G snp 195.9 0/1 15 7 1 6 0.86 UTR5 rs1269634 NRCAM AU 0.451677 0.8304 Uncertain 7_108137253_-->A 7 108137253 108137253 - A indel 1569.73 0/1 99 65 24 41 0.63 intronic rs11448779 PNPLA8 AR NM_015723 exon5 c.24355+54insA 0.605831 0.5417 Uncertain 7_108204479_A->G 7 108204479 108204479 A G snp 118.03 1/1 12 4 0 4 1.0 UTR3 rs40943 THAP5 AU 0.636981 0.6409 Uncertain 7_108212110_C->A 7 108212110 108212110 C A snp 72.77 0/1 99 7 4 3 0.43 intronic rs2072212 DNAJB9 AU 0.529153 0.6379 Uncertain 7_108212353_G->A 7 108212353 108212353 G A snp 1735.77 0/1 99 145 70 75 0.52 exonic rs1043615 DNAJB9 AU synonymous SNV NM_012328 exon2 c.G183A p.P61P 0.478435 0.6369 0.448947 0.5149 0.6111 Uncertain 7_110603012_A->T 7 110603012 110603012 A T snp 1086.77 0/1 99 69 29 40 0.58 intronic rs17158195 IMMP2L AU NM_001244606 exon3 c.299898-543A>T 0.159944 0.2014 Uncertain 7_111372095_T->C 7 111372095 111372095 T C snp 32.77 0/1 61 7 5 2 0.29 intronic rs10953696 DOCK4 AU NM_014705 exon2 c.3952-186T>C 0.745008 0.4355 Uncertain 7_111376840_T->C 7 111376840 111376840 T C snp 2795.77 1/1 99 92 0 92 1.0 intronic rs2301678 DOCK4 AU NM_014705 exon4 c.8643-132T>C 0.948682 0.9673 Uncertain 7_111379582_A->G 7 111379582 111379582 A G snp 799.77 0/1 99 65 34 31 0.48 intronic rs2074115 DOCK4 AU NM_014705 exon6 c.11204+49A>G 0.558906 0.5942 0.673909 0.5952 0.5511 Uncertain 7_111379634_C->A 7 111379634 111379634 C A snp 701.77 1/1 51 24 0 24 1.0 intronic rs10246451 DOCK4 AU NM_014705 exon6 c.11204+101C>A 0.945687 0.9683 Uncertain 7_111379706_A->G 7 111379706 111379706 A G snp 43.77 0/1 72 6 3 3 0.5 intronic rs2074116 DOCK4 AU NM_014705 exon6 c.11204+173A>G 0.327077 0.3552 Uncertain 7_111382272_G->A 7 111382272 111382272 G A snp 1867.77 0/1 99 184 100 84 0.46 intronic rs3757649 DOCK4 AU NM_014705 exon9 c.13859+84G>A 0.260383 0.5694 Uncertain 7_111382324_C->T 7 111382324 111382324 C T snp 2674.77 1/1 99 82 0 82 1.0 intronic rs3757648 DOCK4 AU NM_014705 exon9 c.13859+136C>T 0.947484 0.9683 Uncertain 7_111386365_G->C 7 111386365 111386365 G C snp 526.77 0/1 99 57 35 22 0.39 intronic rs3735535 DOCK4 AU NM_014705 exon10 c.18060-24G>C 0.261382 0.5784 0.255023 0.3553 0.6050 Uncertain 7_111386511_-->T 7 111386511 111386511 - T indel 2326.73 0/1 99 134 66 68 0.51 intronic rs3832524 DOCK4 AU NM_014705 exon10 c.18144+38insT 0.528155 0.6012 0.616441 0.5971 0.6110 Uncertain 7_111423066_G->A 7 111423066 111423066 G A snp 32.77 0/1 61 40 35 5 0.13 intronic rs368911036 DOCK4 AU NM_014705 exon19 c.54651+86G>A Uncertain 7_111423070_G->A 7 111423070 111423070 G A snp 84.77 0/1 99 38 31 7 0.18 intronic rs373393470 DOCK4 AU NM_014705 exon19 c.54651+90G>A Uncertain 7_111423074_G->A 7 111423074 111423074 G A snp 103.77 0/1 99 31 23 8 0.26 intronic rs200044670 DOCK4 AU NM_014705 exon19 c.54651+94G>A Uncertain 7_111487026_G->A 7 111487026 111487026 G A snp 711.77 0/1 99 44 18 26 0.59 intronic rs10275038 DOCK4 AU NM_014705 exon29 c.118725-28G>A 0.392971 0.2312 0.385071 0.2582 0.2356 Uncertain 7_111487098_C->T 7 111487098 111487098 C T snp 1395.77 0/1 99 143 82 61 0.43 exonic rs2074130 DOCK4 AU nonsynonymous SNV NM_014705 exon24 c.G2558A p.R853H 0.0305511 0.1012 0.000737 0.0156 0.1296 0.07 T 1 D -1.169 T 0.023 T 0.009 T Pathogenic 7_111512166_C->- 7 111512166 111512166 C - indel 414.73 0/1 99 27 14 13 0.48 intronic rs58173189 DOCK4 AU NM_014705 exon33 c.143817+20delC 0.17512 0.2192 0.174575 0.1218 0.2555 Uncertain 7_111535497_A->G 7 111535497 111535497 A G snp 328.77 0/1 99 15 4 11 0.73 intronic rs2074131 DOCK4 AU NM_014705 exon37 c.167338-170A>G 0.460463 0.2996 Uncertain 7_111535863_T->C 7 111535863 111535863 T C snp 259.77 0/1 99 13 5 8 0.62 intronic rs2074132 DOCK4 AU NM_014705 exon37 c.167445+89T>C 0.483027 0.3006 Uncertain 7_111580132_T->C 7 111580132 111580132 T C snp 744.77 0/1 99 46 19 27 0.59 intronic rs73428869 DOCK4 AU NM_014705 exon42 c.211835-32T>C 0.183307 0.3611 0.106204 0.1090 0.3850 Uncertain 7_111580451_C->A 7 111580451 111580451 C A snp 361.77 0/1 99 18 7 11 0.61 intronic rs74866281 DOCK4 AU NM_014705 exon42 c.211968+154C>A 0.148762 0.3562 Uncertain 7_111585013_-->AGAC 7 111585013 111585013 - AGAC indel 1333.73 0/1 99 60 30 30 0.5 intronic rs10627423 DOCK4 AU NM_014705 exon43 c.216597+87insAGAC 0.1873 0.3621 Uncertain 7_111585949_T->C 7 111585949 111585949 T C snp 145.77 0/1 97 8 3 5 0.63 intronic rs17159030 DOCK4 AU NM_014705 exon44 c.217524+96T>C 0.170527 0.3611 Uncertain 7_111624522_T->C 7 111624522 111624522 T C snp 453.77 0/1 99 48 25 23 0.48 intronic rs2074127 DOCK4 AU NM_014705 exon46 c.256116+77T>C 0.330671 0.3919 Uncertain 7_111628970_T->C 7 111628970 111628970 T C snp 342.77 0/1 99 20 9 11 0.55 intronic rs2074128 DOCK4 AU NM_014705 exon47 c.260740-99T>C 0.254792 0.3909 Uncertain 7_111629366_G->A 7 111629366 111629366 G A snp 152.77 0/1 99 14 8 6 0.43 intronic rs2074129 DOCK4 AU NM_014705 exon47 c.260889+148G>A 0.372804 0.4415 Uncertain 7_111634067_A->G 7 111634067 111634067 A G snp 402.77 0/1 99 27 12 15 0.56 intronic rs566714 DOCK4 AU NM_014705 exon48 c.265860-122A>G 0.438698 0.4752 Uncertain 7_111634368_A->G 7 111634368 111634368 A G snp 389.77 1/1 30 10 0 10 1.0 intronic rs847541 DOCK4 AU NM_014705 exon48 c.265957+82A>G 0.83726 0.9901 Uncertain 7_111634389_T->C 7 111634389 111634389 T C snp 44.77 0/1 33 3 1 2 0.67 intronic rs847542 DOCK4 AU NM_014705 exon48 c.265957+103T>C 0.439696 0.4752 Uncertain 7_111663757_G->T 7 111663757 111663757 G T snp 2506.77 0/1 99 201 89 112 0.56 intronic rs254867 DOCK4 AU NM_014705 exon51 c.275857+19571G>T 0.440096 0.631 0.3529 0.6269 Uncertain 7_111845968_G->A 7 111845968 111845968 G A snp 122.77 0/1 99 16 11 5 0.31 intronic rs757197 DOCK4 AU NM_014705 exon52 c.477827-188G>A 0.289337 0.5933 Uncertain 7_111846036_G->A 7 111846036 111846036 G A snp 1460.77 0/1 99 85 34 51 0.6 intronic DOCK4 AU NM_014705 exon52 c.477827-120G>A Uncertain 7_111981007_G->A 7 111981007 111981007 G A snp 2671.77 0/1 99 236 114 122 0.52 exonic rs11539696 ZNF277 AU nonsynonymous SNV NM_021994 exon11 c.G1090A p.V364M 0.0455272 0.0248 0.058742 0.0550 0.0288 0.11 T 0.0 P -1.052 T 0.304 T 0.123 T Pathogenic 7_112102355_T->G 7 112102355 112102355 T G snp 2611.77 0/1 99 220 107 113 0.51 exonic rs2253962 IFRD1 AU synonymous SNV NM_001550 exon8 c.T828G p.S276S 0.236821 0.1915 0.270337 0.2378 0.1858 Uncertain 7_112112279_G->A 7 112112279 112112279 G A snp 2739.77 0/1 99 250 137 113 0.45 exonic rs2074796 IFRD1 AU synonymous SNV NM_001550 exon10 c.G1047A p.R349R 0.246206 0.1915 0.278641 0.2398 0.1854 Uncertain 7_112125089_A->G 7 112125089 112125089 A G snp 170.77 0/1 99 12 6 6 0.5 intronic rs3095027 LSMEM1 AU NM_001134468 exon2 c.127+91A>G 0.210064 0.1915 Uncertain 7_112130009_A->C 7 112130009 112130009 A C snp 2911.77 0/1 99 250 127 123 0.49 UTR3 rs11767398 LSMEM1 AU 0.303514 0.1617 0.470629 0.4650 0.1615 Uncertain 7_112575149_A->C 7 112575149 112575149 A C snp 437.77 1/1 33 14 0 14 1.0 intronic rs10231221 C7orf60 AU NM_152556 exon5 c.117847-4496A>C 0.975639 1 Uncertain 7_112724417_A->G 7 112724417 112724417 A G snp 5876.77 1/1 99 188 0 188 1.0 exonic rs2256044 GPR85 AU synonymous SNV NM_001146265 exon3 c.T360C p.Y120Y 0.911741 0.9722 0.900507 0.8914 0.9782 Uncertain 7_112724525_A->G 7 112724525 112724525 A G snp 7949.77 1/1 99 250 0 250 1.0 exonic rs1608890 GPR85 AU synonymous SNV NM_001146265 exon3 c.T252C p.G84G 0.898363 0.9732 0.888205 0.8877 0.9779 Uncertain 7_112758461_G->T 7 112758461 112758461 G T snp 724.77 0/1 99 57 28 29 0.51 ncRNA_intronic rs78348672 LINC00998 AU 0.00658946 0.0308 0.0007 0.0224 Uncertain 7_113518434_C->A 7 113518434 113518434 C A snp 3150.77 1/1 99 117 0 117 1.0 exonic rs1799999 PPP1R3A AD nonsynonymous SNV NM_002711 exon4 c.G2713T p.D905Y 0.308706 0.6409 0.135343 0.2191 0.6952 0.01 T 0.164 P -0.998 T 0.976 D 0.72 D CLINSIG=other;CLNDBN=Insulin_resistance\x2c_susceptibility_to;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000009243.1;CLNDSDB=MedGen;CLNDSDBID=C1852091 ID=CM950973;DIS=Insulin resistance, association with;TAG=DP;PUB=7581368 DP Pathogenic 7_113518498_C->A 7 113518498 113518498 C A snp 1996.77 0/1 99 148 75 73 0.49 exonic rs1800000 PPP1R3A AD nonsynonymous SNV NM_002711 exon4 c.G2649T p.R883S 0.0357428 0.126 0.003230 0.0283 0.1445 0.56 T 0.0 P -0.935 T 0.005 T 0.002 T ID=CM981621;DIS=Insulin resistance, association with;TAG=DP;PUB=9726244 DP Pathogenic 7_113518502_A->T 7 113518502 113518502 A T snp 4837.77 1/1 99 152 0 152 1.0 exonic rs2974938 PPP1R3A AD nonsynonymous SNV NM_002711 exon4 c.T2645A p.L882H 0.969848 0.999 0.968625 0.9900 1 0.31 T 0.0 P -1.035 T 0.001 T 0.001 T Pathogenic 7_113519719_A->T 7 113519719 113519719 A T snp 5346.77 1/1 99 183 0 183 1.0 exonic rs2974944 PPP1R3A AD nonsynonymous SNV NM_002711 exon4 c.T1428A p.N476K 0.996406 1 0.996077 0.9990 1 1 T 0.0 P -0.981 T 0.0 T 0.0 T Pathogenic 7_113519796_C->T 7 113519796 113519796 C T snp 5673.77 1/1 99 203 0 203 1.0 exonic rs2974942 PPP1R3A AD nonsynonymous SNV NM_002711 exon4 c.G1351A p.V451M 0.970048 0.999 0.970701 0.9916 1 0.35 T 0.0 P -0.991 T 0.003 T 0.004 T Pathogenic 7_113559159_G->T 7 113559159 113559159 G T snp 40.77 0/1 33 3 1 2 0.67 upstream rs12666598 PPP1R3A AD 0.000199681 0.001 Uncertain 7_114210814_T->C 7 114210814 114210814 T C snp 1142.77 0/1 99 76 38 38 0.5 intronic rs17137124 FOXP2 AD NM_148898 exon4 c.144295-47T>C 0.51857 0.747 0.459331 0.5544 0.7205 Uncertain 7_114562833_-->TT 7 114562833 114562833 - TT indel 382.75 1/1 24 8 0 8 1.0 intronic rs35262508 MDFIC AU NM_199072 exon1 c.220+142insTT 0.734425 0.8323 Uncertain 7_114619598_C->A 7 114619598 114619598 C A snp 3379.77 1/1 99 116 0 116 1.0 exonic rs2594449 MDFIC AU synonymous SNV NM_001166345 exon4 c.C255A p.A85A 0.985823 1 0.984161 0.9955 1 Uncertain 7_116139718_T->G 7 116139718 116139718 T G snp 474.77 1/1 39 13 0 13 1.0 UTR5 rs3735625 CAV2 AU 0.698482 0.9246 Uncertain 7_116139741_G->A 7 116139741 116139741 G A snp 404.77 0/1 99 36 20 16 0.44 UTR5 rs3735626 CAV2 AU 0.000798722 0.004 Uncertain 7_116140076_T->C 7 116140076 116140076 T C snp 1477.77 1/1 99 43 0 43 1.0 intronic rs2535220 CAV2 AU NM_001233 exon1 c.150+91T>C 0.873802 0.9335 Uncertain 7_116140275_T->C 7 116140275 116140275 T C snp 1816.77 1/1 99 58 0 58 1.0 UTR5 rs11767363 CAV2 AU 0.874601 0.9345 0.847839 0.8586 0.9448 Uncertain 7_116140509_G->- 7 116140509 116140509 G - indel 989.73 0/1 99 63 22 41 0.65 intronic rs3214317 CAV2 AU NM_001233 exon2 c.666+8delG 0.058147 0.0948 0.1555 Uncertain 7_116140524_G->T 7 116140524 116140524 G T snp 451.77 0/1 99 41 25 16 0.39 intronic rs2270188 CAV2 AU NM_001233 exon2 c.666+23G>T 0.546126 0.7778 0.455559 0.5352 0.7821 Uncertain 7_116145957_A->T 7 116145957 116145957 A T snp 560.77 0/1 99 46 26 20 0.43 intronic rs4730743 CAV2 AU NM_001233 exon3 c.6189-67A>T 0.546326 0.7768 Uncertain 7_116165360_A->C 7 116165360 116165360 A C snp 1912.77 1/1 99 68 0 68 1.0 intronic rs1997623 CAV1 AU,AD NM_001753 exon1 c.30+214A>C 0.836861 0.9325 0.8435 0.9404 Uncertain 7_116165463_T->C 7 116165463 116165463 T C snp 795.77 1/1 60 24 0 24 1.0 intronic rs2742125 CAV1 AU,AD NM_001753 exon1 c.30+317T>C 0.83766 0.9325 Uncertain 7_116364824_A->- 7 116364824 116364824 A - indel 787.73 0/1 99 55 33 22 0.4 intronic rs34822187 MET AR,AD,AU NM_000245 exon3 c.32583-6897delA 0.346246 0.4563 0.4255 0.4318 Uncertain 7_116395257_C->T 7 116395257 116395257 C T snp 182.9 1/1 15 5 0 5 1.0 intronic rs38860 MET AR,AD,AU NM_000245 exon6 c.56270-151C>T 0.979633 1 Uncertain 7_116397572_A->G 7 116397572 116397572 A G snp 496.77 0/1 99 54 34 20 0.37 exonic rs13223756 MET AR,AD,AU synonymous SNV NM_001127500 exon7 c.A1944G p.Q648Q 0.187899 0.2728 0.168712 0.1878 0.3005 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|Hereditary_cancer-predisposing_syndrome;CLNREVSTAT=criteria_provided\x2c_single_submitter|criteria_provided\x2c_single_submitter;CLNACC=RCV000079486.3|RCV000162945.1;CLNDSDB=MedGen|MedGen:SNOMED_CT;CLNDSDBID=CN169374|C0027672:699346009 Uncertain 7_116421967_T->C 7 116421967 116421967 T C snp 506.77 0/1 99 28 7 21 0.75 intronic rs6947629 MET AR,AD,AU NM_000245 exon18 c.82903-74T>C 0.648562 0.5337 Uncertain 7_116435768_C->T 7 116435768 116435768 C T snp 471.77 0/1 99 61 38 23 0.38 exonic rs41736 MET AR,AD,AU synonymous SNV NM_001127500 exon20 c.C3912T p.D1304D 0.352236 0.4673 0.323495 0.4228 0.4562 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|Hereditary_cancer-predisposing_syndrome;CLNREVSTAT=criteria_provided\x2c_single_submitter|criteria_provided\x2c_single_submitter;CLNACC=RCV000079492.3|RCV000162950.1;CLNDSDB=MedGen|MedGen:SNOMED_CT;CLNDSDBID=CN169374|C0027672:699346009 ID=COSM150377;OCCURENCE=1(large_intestine),1(stomach) Uncertain 7_116436022_G->A 7 116436022 116436022 G A snp 2116.77 0/1 99 209 117 92 0.44 exonic rs2023748 MET AR,AD,AU synonymous SNV NM_001127500 exon21 c.G4071A p.A1357A 0.353834 0.4673 0.322504 0.4245 0.4563 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|Hereditary_cancer-predisposing_syndrome;CLNREVSTAT=criteria_provided\x2c_single_submitter|criteria_provided\x2c_single_submitter;CLNACC=RCV000079493.3|RCV000162951.1;CLNDSDB=MedGen|MedGen:SNOMED_CT;CLNDSDBID=CN169374|C0027672:699346009 ID=COSM150378;OCCURENCE=1(stomach),1(large_intestine) Uncertain 7_116436097_G->A 7 116436097 116436097 G A snp 2158.77 0/1 99 168 80 88 0.52 exonic rs41737 MET AR,AD,AU synonymous SNV NM_001127500 exon21 c.G4146A p.P1382P 0.354633 0.4673 0.321048 0.4248 0.4569 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|Hereditary_cancer-predisposing_syndrome;CLNREVSTAT=criteria_provided\x2c_single_submitter|criteria_provided\x2c_single_submitter;CLNACC=RCV000079494.3|RCV000162952.1;CLNDSDB=MedGen|MedGen:SNOMED_CT;CLNDSDBID=CN169374|C0027672:699346009 ID=COSM150379;OCCURENCE=1(stomach),1(large_intestine) Uncertain 7_116528240_C->T 7 116528240 116528240 C T snp 835.77 0/1 99 62 27 35 0.56 exonic rs4808 CAPZA2 AU synonymous SNV NM_006136 exon2 c.C99T p.F33F 0.323482 0.3948 0.278034 0.2645 0.4196 0 D 1.000 P -1.004 T Likely benign 7_116533204_A->G 7 116533204 116533204 A G snp 72.77 0/1 99 8 4 4 0.5 intronic rs12706110 CAPZA2 AU NM_006136 exon3 c.30434+105A>G 0.259984 0.3968 Uncertain 7_116550433_T->G 7 116550433 116550433 T G snp 181.77 0/1 99 19 10 9 0.47 intronic rs79626340 CAPZA2 AU NM_006136 exon7 c.47700+68T>G 0.0231629 0.0526 Uncertain 7_116550456_C->T 7 116550456 116550456 C T snp 359.78 1/1 27 13 0 13 1.0 intronic rs2074025 CAPZA2 AU NM_006136 exon7 c.47700+91C>T 0.76258 0.8442 Uncertain 7_116557939_C->T 7 116557939 116557939 C T snp 1538.77 0/1 99 133 70 63 0.47 UTR3 rs3173936 CAPZA2 AU 0.259984 0.3968 0.212902 0.2461 0.4197 Uncertain 7_116596697_A->G 7 116596697 116596697 A G snp 3281.77 1/1 99 117 0 117 1.0 ncRNA_exonic rs6960131 ST7-OT4 AU 0.979233 1 0.9967 1 0 D 0.0 P -1.048 T 0.0 T 0.0 T Uncertain 7_116598735_A->G 7 116598735 116598735 A G snp 1871.77 1/1 99 56 0 56 1.0 ncRNA_intronic rs6466595 ST7-OT4 AU 0.756789 0.8562 0.9013 0.8663 0 D 0.0 P -1.050 T Uncertain 7_116600049_A->T 7 116600049 116600049 A T snp 2335.77 1/1 99 68 0 68 1.0 intronic rs10262671 ST7 AU NM_021908 exon1 c.151+6304A>T 0.979233 1 Uncertain 7_116607501_T->C 7 116607501 116607501 T C snp 1304.77 1/1 93 48 0 48 1.0 intronic rs10259502 ST7 AU NM_021908 exon1 c.151+13756T>C 0.994609 1 0.9993 1 Uncertain 7_116660465_C->- 7 116660465 116660465 C - indel 2547.73 1/1 99 62 0 62 1.0 intronic rs398095326 ST7 AU NM_021908 exon1 c.151+66720delC 0.978634 1 Uncertain 7_116660803_A->G 7 116660803 116660803 A G snp 735.77 0/1 99 52 22 30 0.58 intronic rs7788320 ST7 AU NM_021908 exon1 c.151+67058A>G 0.46905 0.4554 Uncertain 7_116811037_T->C 7 116811037 116811037 T C snp 1707.77 0/1 99 137 63 74 0.54 intronic rs193562 ST7 AU NM_021908 exon10 c.217436+7T>C 0.271565 0.2014 0.306397 0.2211 0.2147 Uncertain 7_116811139_T->C 7 116811139 116811139 T C snp 48.77 0/1 77 14 10 4 0.29 intronic rs193563 ST7 AU NM_021908 exon10 c.217436+109T>C 0.167532 0.2014 Uncertain 7_116829463_T->C 7 116829463 116829463 T C snp 1583.77 0/1 99 143 78 65 0.45 ncRNA_intronic rs185187 ST7-OT3 AU 0.169329 0.2004 0.127095 0.0988 0.2235 Uncertain 7_116838311_G->A 7 116838311 116838311 G A snp 6322.77 1/1 99 230 0 230 1.0 ncRNA_intronic rs193573 ST7-OT3 AU 0.712859 0.9345 Uncertain 7_117188736_C->A 7 117188736 117188736 C A snp 139.77 0/1 99 71 58 13 0.18 exonic rs4727853 CFTR AR,AD,AU nonsynonymous SNV NM_000492 exon10 c.C1251A p.N417K 0.0189 0.0093 0.99 T 1 N -0.614 T 0.0 T 0.002 T Pathogenic 7_117188850_G->T 7 117188850 117188850 G T snp 54.77 0/1 83 110 97 13 0.12 exonic rs79074685 CFTR AR,AD,AU synonymous SNV NM_000492 exon10 c.G1365T p.A455A 0.0007 0.0005 CLINSIG=probable-non-pathogenic;CLNDBN=Cystic_fibrosis;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000029473.1;CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT;CLNDSDBID=NBK1250:C0010674:219700:ORPHA586:190905008 Uncertain 7_117357909_T->C 7 117357909 117357909 T C snp 338.77 0/1 99 16 5 11 0.69 intronic rs6466619 CTTNBP2 AU NM_033427 exon2 c.6481-162T>C 0.570887 0.3472 Uncertain 7_117450792_A->C 7 117450792 117450792 A C snp 50.74 1/1 6 2 0 2 1.0 intronic rs2111204 CTTNBP2 AU NM_033427 exon21 c.99228-26A>C 0.635383 0.9673 0.560126 0.6314 0.9650 Uncertain 7_117451124_T->C 7 117451124 117451124 T C snp 49.77 0/1 33 4 1 3 0.75 intronic rs6973399 CTTNBP2 AU NM_033427 exon21 c.99453+81T>C 0.47484 0.6786 Uncertain 7_117824239_G->C 7 117824239 117824239 G C snp 3439.77 0/1 99 250 129 121 0.48 UTR5 rs2896242 LSM8 AU 0.815895 0.746 0.779382 0.7850 0.7862 Uncertain 7_117825549_T->G 7 117825549 117825549 T G snp 102.77 0/1 99 12 8 4 0.33 intronic rs9655829 LSM8 AU NM_016200 exon2 c.1430-158T>G 0.743411 0.746 Uncertain 7_117825681_A->G 7 117825681 117825681 A G snp 1010.77 0/1 99 71 25 46 0.65 intronic rs45604739 LSM8 AU NM_016200 exon2 c.1430-26A>G 0.373403 0.2937 0.428264 0.5175 0.3225 Uncertain 7_117825834_A->G 7 117825834 117825834 A G snp 786.77 0/1 99 60 30 30 0.5 intronic rs2041527 LSM8 AU NM_016200 exon2 c.1471+86A>G 0.666334 0.6429 Uncertain 7_117832138_G->A 7 117832138 117832138 G A snp 452.77 0/1 99 32 14 18 0.56 UTR3 rs1061731 LSM8 AU 0.754593 0.746 Uncertain 7_117874308_C->T 7 117874308 117874308 C T snp 43.77 0/1 72 4 2 2 0.5 intronic rs10267938 ANKRD7 AU NM_019644 exon2 c.9600-176C>T 0.248003 0.249 Uncertain 7_120372823_A->G 7 120372823 120372823 A G snp 43.77 0/1 70 4 2 2 0.5 intronic rs12673992 KCND2 AU NM_012281 exon2 c.458270-133A>G 0.439696 0.4613 Uncertain 7_120380962_TTTG->- 7 120380962 120380965 TTTG - indel 1583.73 0/1 99 120 38 82 0.68 intronic rs3834346 KCND2 AU NM_012281 exon3 c.466901-625_466901-622delTTTG 0.2285 0.4565 Uncertain 7_120428607_G->A 7 120428607 120428607 G A snp 2782.77 1/1 99 89 0 89 1.0 UTR3 rs41622 TSPAN12 AD 0.846246 0.9593 0.771763 0.8048 0.9596 Uncertain 7_120428799_C->A 7 120428799 120428799 C A snp 5114.77 1/1 99 191 1 190 0.99 exonic rs41623 TSPAN12 AD synonymous SNV NM_012338 exon8 c.G765T p.P255P 0.851438 0.9593 0.773643 0.8032 0.9599 Uncertain 7_120450658_G->A 7 120450658 120450658 G A snp 5076.77 1/1 99 185 0 185 1.0 intronic rs7805733 TSPAN12 AD NM_012338 exon3 c.21979+34G>A 0.842252 0.9603 0.768722 0.8000 0.9606 Uncertain 7_120450679_CA->- 7 120450679 120450680 CA - indel 2160.73 ./1 99 142 8 134 0.94 intronic TSPAN12 AD NM_012338 exon3 c.21979+55_21979+56delCA Uncertain 7_120450678_-->CA 7 120450678 120450678 - CA indel 2160.73 ./1 99 142 8 134 0.94 intronic rs112555207 TSPAN12 AD NM_012338 exon3 c.21979+54insCA Uncertain 7_120450736_C->A 7 120450736 120450736 C A snp 767.77 0/1 99 42 19 23 0.55 intronic rs3735467 TSPAN12 AD NM_012338 exon3 c.21979+112C>A 0.652756 0.629 Uncertain 7_120590786_-->G 7 120590786 120590786 - G indel 235.8 1/1 18 6 0 6 1.0 upstream rs11408222 ING3 AU 1 1 Uncertain 7_120608216_C->T 7 120608216 120608216 C T snp 510.77 0/1 99 43 21 22 0.51 intronic rs79589210 ING3 AU NM_019071 exon8 c.17195+71C>T 0.183706 0.3006 Uncertain 7_120609393_G->A 7 120609393 120609393 G A snp 93.77 0/1 99 17 11 6 0.35 intronic rs2721372 ING3 AU NM_019071 exon9 c.18308+135G>A 0.419329 0.3532 Uncertain 7_120613419_A->G 7 120613419 120613419 A G snp 572.77 1/1 42 18 0 18 1.0 intronic rs2721369 ING3 AU NM_019071 exon11 c.22347+122A>G 0.999201 1 Uncertain 7_120704289_C->T 7 120704289 120704289 C T snp 1972.77 0/1 99 150 70 80 0.53 splicing rs2721375 CPED1 AU NM_001105533 exon4 c.74616-2C>T 0.911941 0.9633 0.934492 0.9139 0.9554 Pathogenic 7_120739963_TT->- 7 120739963 120739964 TT - indel 826.73 0/1 99 90 50 40 0.44 intronic rs548078791 CPED1 AU NM_001105533 exon6 c.110304-16_110304-15delTT 0.617013 0.6825 0.5626 0.6879 Uncertain 7_120740103_G->T 7 120740103 120740103 G T snp 2472.77 0/1 99 206 95 111 0.54 exonic rs798937 CPED1 AU synonymous SNV NM_001105533 exon6 c.G873T p.T291T 0.774161 0.9633 0.751269 0.8003 0.9555 Uncertain 7_120740225_C->G 7 120740225 120740225 C G snp 1035.77 0/1 99 58 21 37 0.64 intronic rs1917112 CPED1 AU NM_001105533 exon6 c.110473+77C>G 0.492612 0.8452 Uncertain 7_120764241_C->G 7 120764241 120764241 C G snp 123.85 0/1 17 5 1 4 0.8 intronic rs3779384 CPED1 AU NM_001105533 exon7 c.134709-143C>G 0.494409 0.8552 Uncertain 7_120764477_G->C 7 120764477 120764477 G C snp 1731.77 0/1 99 165 87 78 0.47 exonic rs1524498 CPED1 AU synonymous SNV NM_001105533 exon7 c.G1011C p.A337A 0.381132 0.4877 0.8392 Uncertain 7_120765954_T->C 7 120765954 120765954 T C snp 2570.77 0/1 99 208 98 110 0.53 intronic rs798949 CPED1 AU NM_001105533 exon8 c.136271+8T>C 0.505591 0.8552 0.395279 0.4927 0.8399 Uncertain 7_120768246_C->T 7 120768246 120768246 C T snp 43.77 0/1 70 4 2 2 0.5 intronic rs13221538 CPED1 AU NM_001105533 exon10 c.138760-189C>T 0.200479 0.0357 Uncertain 7_120773783_T->A 7 120773783 120773783 T A snp 640.77 0/1 99 49 21 28 0.57 intronic rs34385410 CPED1 AU NM_001105533 exon12 c.144201-93T>A 0.111422 0.0357 Uncertain 7_120773954_A->G 7 120773954 120773954 A G snp 343.77 0/1 99 26 11 15 0.58 intronic rs61128227 CPED1 AU NM_001105533 exon12 c.144272+7A>G 0.374201 0.6081 0.294453 0.4213 0.6230 Uncertain 7_120776097_C->G 7 120776097 120776097 C G snp 112.77 0/1 99 17 8 9 0.53 exonic rs41281692 CPED1 AU nonsynonymous SNV NM_001105533 exon13 c.C1652G p.A551G 0.492812 0.8552 0.379371 0.5027 0.8421 0.36 T 0.0 P -1.014 T 0.403 T 0.221 T Pathogenic 7_120781884_G->T 7 120781884 120781884 G T snp 549.77 1/1 42 14 0 14 1.0 intronic rs11979314 CPED1 AU NM_001105533 exon15 c.152351-142G>T 0.987021 1 Uncertain 7_120965652_C->T 7 120965652 120965652 C T snp 368.77 0/1 99 35 20 15 0.43 intergenic rs7782648 CPED1 AU 0.105232 0.0556 Uncertain 7_120969769_G->A 7 120969769 120969769 G A snp 1473.77 0/1 99 119 59 60 0.5 exonic rs2908004 WNT16 AU nonsynonymous SNV NM_057168 exon2 c.G244A p.G82R 0.510383 0.1766 0.584730 0.4577 0.1779 0.21 T 0.000 P -0.938 T 0.001 T 0.001 T ID=CM127941;DIS=Bone mineral density, association with;TAG=DP;PUB=22792071 DP Pathogenic 7_120979089_C->T 7 120979089 120979089 C T snp 1294.77 0/1 99 103 54 49 0.48 exonic rs2707466 WNT16 AU nonsynonymous SNV NM_057168 exon4 c.C788T p.T263I 0.502995 0.1716 0.580194 0.4551 0.1767 0.29 T 0.000 P -0.993 T 0.003 T 0.004 T ID=CM127940;DIS=Cortical bone thickness/bone mineral density, association with;TAG=DP;PUB=22792071 DP Pathogenic 7_120991489_T->C 7 120991489 120991489 T C snp 101.77 0/1 99 16 11 5 0.31 intronic rs11768996 FAM3C AU NM_014888 exon2 c.809+166T>C 0.136182 0.0516 Uncertain 7_121000084_-->AAGTTTT 7 121000084 121000084 - AAGTTTT indel 727.73 0/1 99 27 18 9 0.33 intronic rs111415936 FAM3C AU NM_014888 exon3 c.9582-12insAAGTTTT 0.237819 0.0516 0.262198 0.2024 0.0460 Uncertain 7_121002876_A->G 7 121002876 121002876 A G snp 929.77 0/1 99 88 47 41 0.47 intronic rs2536164 FAM3C AU NM_014888 exon4 c.12436-74A>G 0.238419 0.0516 0.263469 Uncertain 7_121002910_C->T 7 121002910 121002910 C T snp 1058.77 0/1 99 101 53 48 0.48 intronic rs2536163 FAM3C AU NM_014888 exon4 c.12436-40C>T 0.238219 0.0516 0.272727 0.2063 0.0471 Uncertain 7_121011615_G->T 7 121011615 121011615 G T snp 364.77 0/1 99 29 17 12 0.41 intronic rs2536155 FAM3C AU NM_014888 exon6 c.20963+138G>T 0.238818 0.0516 Uncertain 7_121080929_A->G 7 121080929 121080929 A G snp 691.77 1/1 51 27 0 27 1.0 intergenic rs6961822 FAM3C AU 0.539936 0.6329 0.603922 0.6689 0.6252 Uncertain 7_121081052_C->T 7 121081052 121081052 C T snp 1145.77 1/1 81 44 0 44 1.0 intergenic rs6962156 FAM3C AU 0.539337 0.6329 0.598861 0.6680 0.6256 Uncertain 7_121081115_A->C 7 121081115 121081115 A C snp 987.77 1/1 72 31 0 31 1.0 intergenic rs6466786 FAM3C AU 0.933307 1 0.937154 0.9810 1 Uncertain 7_121164363_C->G 7 121164363 121164363 C G snp 2244.77 1/1 99 75 0 75 1.0 intergenic rs2896305 FAM3C AU 0.93151 0.9524 0.918293 0.9234 0.9648 Uncertain 7_121513561_T->G 7 121513561 121513561 T G snp 924.77 0/1 99 73 32 41 0.56 exonic rs740965 PTPRZ1 AU nonsynonymous SNV NM_001206838 exon1 c.T8G p.I3S 0.16274 0.3026 0.116023 0.1647 0.2936 0 D 0.0 P -0.991 T 0.02 T 0.012 T Pathogenic 7_121616250_G->A 7 121616250 121616250 G A snp 403.77 0/1 99 50 29 21 0.42 exonic rs4629793 PTPRZ1 AU synonymous SNV NM_001206838 exon5 c.G480A p.A160A 0.277157 0.3323 0.314433 0.3640 0.3279 Uncertain 7_121653375_TGA->- 7 121653375 121653377 TGA - indel 3583.73 0/1 99 211 103 108 0.51 exonic rs35947407 PTPRZ1 AU nonframeshift deletion NM_002851 exon12 c.4275_4277del p.1425_1426del 0.470647 0.3542 0.4338 0.3554 Uncertain 7_121653398_G->A 7 121653398 121653398 G A snp 2044.77 0/1 99 209 118 91 0.44 exonic rs1147504 PTPRZ1 AU nonsynonymous SNV NM_002851 exon12 c.G4298A p.G1433D 0.679712 0.6478 0.638782 0.5698 0.6324 1 T 1.000 P -0.987 T 0.0 T 0.0 T Pathogenic 7_121684718_A->G 7 121684718 121684718 A G snp 778.77 0/1 99 62 35 27 0.44 intronic rs1147487 PTPRZ1 AU NM_002851 exon23 c.171069+96A>G 0.502396 0.3502 Uncertain 7_121692057_G->T 7 121692057 121692057 G T snp 443.77 0/1 99 42 24 18 0.43 intronic rs189061752 PTPRZ1 AU NM_002851 exon25 c.178440+64G>T 0.000599042 0.003 Uncertain 7_121698827_A->C 7 121698827 121698827 A C snp 418.77 0/1 99 29 13 16 0.55 intronic rs1206381 PTPRZ1 AU NM_002851 exon28 c.185300-26A>C 0.501997 0.3492 0.481778 0.4614 0.3495 Uncertain 7_121719586_C->T 7 121719586 121719586 C T snp 461.77 0/1 99 45 29 16 0.36 intronic rs1206368 AASS AR NM_005763 exon4 c.3108-64C>T 0.671526 0.6062 Uncertain 7_121719823_G->A 7 121719823 121719823 G A snp 142.77 0/1 99 13 7 6 0.46 intronic rs1206369 AASS AR NM_005763 exon4 c.3224+57G>A 0.671526 0.6062 Uncertain 7_121741366_C->T 7 121741366 121741366 C T snp 309.77 0/1 99 18 6 12 0.67 intronic rs143062354 AASS AR NM_005763 exon12 c.24882-58C>T 0.00698882 0.0268 Uncertain 7_121758290_G->C 7 121758290 121758290 G C snp 567.77 0/1 99 53 32 21 0.4 intronic rs279677 AASS AR NM_005763 exon19 c.41818-70G>C 0.666733 0.6042 Uncertain 7_121766638_A->T 7 121766638 121766638 A T snp 186.77 0/1 99 15 8 7 0.47 intronic rs2302338 AASS AR NM_005763 exon21 c.49971+125A>T 0.179912 0.1855 Uncertain 7_121942832_-->ACA 7 121942832 121942832 - ACA indel 12632.7 1/1 99 216 0 216 1.0 intronic rs10685687 FEZF1 AR NM_001024613 exon2 c.802-20insACA 0.982827 1 0.988738 0.9966 1 Uncertain 7_121942847_G->C 7 121942847 121942847 G C snp 2619.77 0/1 99 250 137 113 0.45 splicing rs6968786 FEZF1 AR NM_001024613 exon2 c.802-5G>C 0.616014 0.5913 0.656543 0.6508 0.5827 Pathogenic 7_121942920_A->G 7 121942920 121942920 A G snp 2225.77 0/1 99 248 150 98 0.4 exonic rs78309987 FEZF1 AR synonymous SNV NM_001024613 exon3 c.T1002C p.H334H 0.00339457 0.0169 0.0019 0.0244 Uncertain 7_121944527_T->C 7 121944527 121944527 T C snp 683.77 0/1 99 62 35 27 0.44 ncRNA_intronic rs11761299 FEZF1-AS1 AU 0.622804 0.6042 0.661003 0.6592 0.5940 Uncertain 7_121960407_T->G 7 121960407 121960407 T G snp 592.77 0/1 99 31 11 20 0.65 intronic rs1348442 CADPS2 AU NM_001167940 exon1 c.174+15T>G 0.375399 0.4643 0.348999 0.3906 0.4563 Uncertain 7_121960438_C->T 7 121960438 121960438 C T snp 349.77 0/1 48 13 2 11 0.85 intronic rs1443749 CADPS2 AU NM_001167940 exon1 c.174+46C>T 0.374002 0.4623 0.348755 0.3885 0.4559 Uncertain 7_121985541_T->C 7 121985541 121985541 T C snp 1251.77 1/1 90 40 0 40 1.0 intronic rs798685 CADPS2 AU NM_001167940 exon3 c.25409-86T>C 0.808906 0.996 Uncertain 7_121985556_C->G 7 121985556 121985556 C G snp 1536.77 1/1 99 50 0 50 1.0 intronic rs798684 CADPS2 AU NM_001167940 exon3 c.25409-71C>G 0.874401 0.996 Uncertain 7_122033379_A->G 7 122033379 122033379 A G snp 7198.77 1/1 99 249 0 249 1.0 intronic rs2074588 CADPS2 AU NM_001167940 exon9 c.73151+10A>G 0.31889 0.3869 0.291903 0.3258 0.3911 Uncertain 7_122078414_T->G 7 122078414 122078414 T G snp 6862.77 1/1 99 250 0 250 1.0 exonic rs2074589 CADPS2 AU synonymous SNV NM_017954 exon17 c.A2457C p.T819T 0.284145 0.3889 0.258337 0.3150 0.3894 1.0 P -0.877 T Likely benign 7_122091566_C->G 7 122091566 122091566 C G snp 214.84 1/1 18 10 0 10 1.0 intronic rs3764810 CADPS2 AU NM_001167940 exon16 c.131311+37C>G 0.27476 0.3849 0.251467 0.3232 0.4135 Uncertain 7_122131535_G->A 7 122131535 122131535 G A snp 951.77 1/1 69 33 0 33 1.0 intronic rs1476589 CADPS2 AU NM_001167940 exon21 c.171256+61G>A 0.264577 0.373 Uncertain 7_122255164_C->T 7 122255164 122255164 C T snp 1313.77 0/1 99 117 59 58 0.5 intronic rs34208874 CADPS2 AU NM_001167940 exon25 c.295016-70C>T 0.154353 0.0853 Uncertain 7_122303321_C->T 7 122303321 122303321 C T snp 1718.77 0/1 99 135 68 67 0.5 exonic rs2251761 CADPS2 AU synonymous SNV NM_017954 exon3 c.G756A p.L252L 0.718051 0.7579 0.733317 0.7270 0.7424 Uncertain 7_122635024_C->T 7 122635024 122635024 C T snp 2758.77 0/1 99 249 121 128 0.51 exonic rs860170 TAS2R16 AO nonsynonymous SNV NM_016945 exon1 c.G665A p.R222H 0.729233 0.5218 0.753960 0.6881 0.5400 1 T 0.0 P -1.055 T 0.0 T 0.0 T Pathogenic 7_122755445_A->G 7 122755445 122755445 A G snp 128.03 1/1 12 4 0 4 1.0 UTR3 rs6466854 SLC13A1 AU 0.964457 1 Uncertain 7_122757505_-->T 7 122757505 122757505 - T indel 1468.73 0/1 99 144 83 61 0.42 intronic rs28364221 SLC13A1 AU NM_022444 exon2 c.1953-19insT 0.128594 0.0764 0.2167 0.0878 Uncertain 7_122769379_TGTGTGTG->- 7 122769379 122769386 TGTGTGTG - indel 19100.7 ./1 99 195 6 189 0.97 intronic rs377408737 SLC13A1 AU NM_022444 exon7 c.13865-57_13865-50delTGTGTGTG Uncertain 7_122769379_TGTGTGTGTGTG->- 7 122769379 122769390 TGTGTGTGTGTG - indel 19100.7 ./1 99 195 6 189 0.97 intronic SLC13A1 AU NM_022444 exon7 c.13865-57_13865-46delTGTGTGTGTGTG Uncertain 7_122774729_C->A 7 122774729 122774729 C A snp 186.77 0/1 99 14 7 7 0.5 intronic rs2470984 SLC13A1 AU NM_022444 exon8 c.19012+146C>A 0.357228 0.2788 Uncertain 7_122808528_A->G 7 122808528 122808528 A G snp 161.77 0/1 99 24 18 6 0.25 intronic rs11976455 SLC13A1 AU NM_022444 exon11 c.52986-29A>G 0.141374 0.1716 0.167411 0.1784 0.1739 Uncertain 7_122809111_T->C 7 122809111 122809111 T C snp 751.77 0/1 99 72 41 31 0.43 intronic rs1880178 SLC13A1 AU NM_022444 exon12 c.53630-90T>C 0.653155 0.7123 Uncertain 7_122826788_G->A 7 122826788 122826788 G A snp 2659.77 0/1 99 239 128 111 0.46 intronic rs556039811 SLC13A1 AU NM_022444 exon14 c.65584+5633G>A 0.000199681 Uncertain 7_123097380_C->T 7 123097380 123097380 C T snp 297.77 0/1 99 17 7 10 0.59 intronic rs12673749 IQUB AU NM_001282855 exon2 c.4638-54C>T 0.225639 0.3879 Uncertain 7_123097468_T->C 7 123097468 123097468 T C snp 1158.77 0/1 99 77 32 45 0.58 exonic rs10234745 IQUB AU synonymous SNV NM_001282855 exon12 c.A2160G p.A720A 0.337061 0.3909 0.319468 0.3064 0.3430 Uncertain 7_123119990_T->C 7 123119990 123119990 T C snp 2174.77 0/1 99 214 115 99 0.46 exonic rs10500091 IQUB AU synonymous SNV NM_001282855 exon8 c.A1269G p.Q423Q 0.22524 0.3879 0.213011 0.2705 0.3410 Uncertain 7_123120070_C->T 7 123120070 123120070 C T snp 850.77 0/1 99 66 32 34 0.52 intronic rs12155170 IQUB AU NM_001282855 exon6 c.27228+46C>T 0.334265 0.3899 0.313875 0.3043 0.3418 Uncertain 7_123150194_T->C 7 123150194 123150194 T C snp 157.77 0/1 99 16 8 8 0.5 intronic rs1917708 IQUB AU NM_001282855 exon11 c.57293+105T>C 0.275559 0.369 Uncertain 7_123152019_C->T 7 123152019 123152019 C T snp 1434.77 0/1 99 118 63 55 0.47 exonic rs10255061 IQUB AU nonsynonymous SNV NM_001282855 exon2 c.G376A p.V126M 0.267971 0.369 0.257152 0.2829 0.3240 0.57 T 0.0 P -0.986 T 0.002 T 0.003 T Pathogenic 7_123152035_T->C 7 123152035 123152035 T C snp 1660.77 0/1 99 134 71 63 0.47 exonic rs10270705 IQUB AU synonymous SNV NM_001282855 exon2 c.A360G p.E120E 0.324481 0.369 0.348124 0.3400 0.3245 Uncertain 7_123196787_-->A 7 123196787 123196787 - A indel 155.73 0/1 99 15 8 7 0.47 intronic rs113495801 NDUFA5 AU NM_005000 exon4 c.15285-670insA 0.296725 0.3651 0.2912 0.3203 Uncertain 7_123256427_C->T 7 123256427 123256427 C T snp 3834.77 1/1 99 143 0 143 1.0 exonic rs6962756 ASB15 AU nonsynonymous SNV NM_080928 exon4 c.C170T p.P57L 0.779353 0.7927 0.785374 0.7785 0.7738 0.73 T 0.002 P -0.965 T 0.0 T 0.0 T Pathogenic 7_123256643_G->T 7 123256643 123256643 G T snp 122.03 1/1 12 4 0 4 1.0 ncRNA_intronic rs6963354 LOC102724555 AU 0.517372 0.6974 Uncertain 7_123264804_C->T 7 123264804 123264804 C T snp 3612.77 1/1 99 125 0 125 1.0 exonic rs11769381 ASB15 AU synonymous SNV NM_080928 exon6 c.C633T p.V211V 0.469649 0.5446 0.409965 0.4718 0.5350 Uncertain 7_123269118_G->C 7 123269118 123269118 G C snp 7836.77 1/1 99 250 1 249 1.0 exonic rs4731112 ASB15 AU nonsynonymous SNV NM_080928 exon8 c.G1070C p.G357A 0.791733 0.8284 0.719668 0.7411 0.8067 1 T 0.025 P -0.903 T 0.0 T 0.0 T Pathogenic 7_123269976_-->GC 7 123269976 123269976 - GC indel 516.74 1/1 30 10 0 10 1.0 intronic rs3993666 ASB15 AU NM_080928 exon9 c.15463-43insGC 0.791733 0.8284 0.721973 0.7450 0.8100 Uncertain 7_123295964_C->T 7 123295964 123295964 C T snp 1368.77 1/1 99 46 0 46 1.0 UTR5 rs7779099 LMOD2 AU 0.798123 0.8403 Uncertain 7_123296320_C->A 7 123296320 123296320 C A snp 344.78 1/1 27 14 0 14 1.0 intronic rs12538876 LMOD2 AU NM_207163 exon1 c.273+30C>A 0.483626 0.5565 0.419692 0.5056 0.5428 Uncertain 7_123301940_A->G 7 123301940 123301940 A G snp 1782.77 1/1 99 61 0 61 1.0 exonic rs7809453 LMOD2 AU synonymous SNV NM_207163 exon2 c.A300G p.E100E 0.505391 0.5575 0.423328 0.5514 0.5499 1.000 P Uncertain 7_123324746_CAG->- 7 123324746 123324748 CAG - indel 2449.73 1/1 99 38 0 38 1.0 intronic rs147291543 WASL AU NM_003941 exon1 c.62+112_62+114delCAG 0.501997 0.5585 Uncertain 7_123329061_TCTC->- 7 123329061 123329064 TCTC - indel 707.73 ./1 99 17 0 17 1.0 intronic rs3035629 WASL AU NM_003941 exon2 c.4523-34_4523-31delTCTC 0.3651 0.3734 Uncertain 7_123329061_TC->- 7 123329061 123329062 TC - indel 707.73 ./1 99 17 0 17 1.0 intronic rs67743898 WASL AU NM_003941 exon2 c.4523-34_4523-33delTC 0.4394 0.4469 Uncertain 7_123334697_T->- 7 123334697 123334697 T - indel 2247.73 1/1 99 54 0 54 1.0 intronic rs35280100 WASL AU NM_003941 exon4 c.10196-71delT 0.504792 0.5575 Uncertain 7_123388732_G->A 7 123388732 123388732 G A snp 3559.77 1/1 99 141 0 141 1.0 exonic rs1054706 WASL AU synonymous SNV NM_003941 exon1 c.C57T p.S19S 0.477236 0.5565 0.423574 0.4971 0.5481 Uncertain 7_123594206_G->A 7 123594206 123594206 G A snp 7045.77 1/1 99 248 1 247 1.0 exonic rs2285996 SPAM1 AU synonymous SNV NM_001174044 exon3 c.G582A p.K194K 0.247005 0.3006 0.238428 0.2814 0.2828 Uncertain 7_123594903_A->T 7 123594903 123594903 A T snp 669.77 1/1 51 17 0 17 1.0 intronic rs6972388 SPAM1 AU NM_001174046 exon4 c.1426-147A>T 0.247005 0.3006 Uncertain 7_124387092_C->G 7 124387092 124387092 C G snp 6758.77 1/1 99 237 0 237 1.0 exonic rs3735270 GPR37 AU synonymous SNV NM_005302 exon2 c.G1329C p.L443L 0.396765 0.5367 0.401199 0.4541 0.5126 Uncertain 7_124387374_A->G 7 124387374 124387374 A G snp 1026.77 1/1 75 32 0 32 1.0 exonic rs724356 GPR37 AU synonymous SNV NM_005302 exon2 c.T1047C p.T349T 0.71865 0.998 0.648624 0.7707 0.9992 Uncertain 7_124462655_T->C 7 124462655 124462655 T C snp 2186.77 0/1 99 191 96 95 0.5 UTR3 rs76436625 POT1 AD 0.161142 0.2014 0.1932 0.1970 Uncertain 7_124462661_C->T 7 124462661 124462661 C T snp 2139.77 0/1 99 185 92 93 0.5 UTR3 rs17246404 POT1 AD 0.177117 0.3075 Uncertain 7_124467470_T->C 7 124467470 124467470 T C snp 155.77 0/1 63 7 2 5 0.71 intronic rs10244817 POT1 AD NM_001042594 exon3 c.3344+111T>C 0.195088 0.3075 Uncertain 7_124475296_-->AAACA 7 124475296 124475296 - AAACA indel 555.73 0/1 99 36 26 10 0.28 intronic rs201504396 POT1 AD NM_001042594 exon5 c.11317-36insAAACA 0.2254 0.2843 Uncertain 7_124477182_A->G 7 124477182 124477182 A G snp 572.77 0/1 99 58 32 26 0.45 intronic rs7787804 POT1 AD NM_001042594 exon5 c.11453+1714A>G 0.701677 0.7976 Uncertain 7_124486980_T->C 7 124486980 124486980 T C snp 854.77 0/1 99 71 32 39 0.55 intronic rs7794637 POT1 AD NM_001042594 exon8 c.22980-15T>C 0.721845 0.7986 0.710441 0.6950 0.8022 Uncertain 7_124492038_T->C 7 124492038 124492038 T C snp 382.77 0/1 99 36 19 17 0.47 intronic rs7784168 POT1 AD NM_001042594 exon9 c.27990+33T>C 0.306909 0.2024 0.312712 0.3351 0.2142 Uncertain 7_124499002_A->C 7 124499002 124499002 A C snp 1546.77 1/1 99 47 0 47 1.0 intronic rs6977407 POT1 AD NM_001042594 exon11 c.34995-8A>C 0.582069 0.5089 0.097570 0.5903 0.4960 Uncertain 7_124499003_T->A 7 124499003 124499003 T A snp 1574.77 1/1 99 48 0 48 1.0 intronic rs6959712 POT1 AD NM_001042594 exon11 c.34995-7T>A 0.582468 0.5099 0.150700 0.5901 0.4960 Uncertain 7_124533680_C->T 7 124533680 124533680 C T snp 5969.77 1/1 99 217 0 217 1.0 intronic rs4377885 POT1 AD NM_001042594 exon13 c.68419+1246C>T 0.58147 0.5099 Uncertain 7_124533740_C->T 7 124533740 124533740 C T snp 6936.77 1/1 99 250 0 250 1.0 intronic rs10954048 POT1 AD NM_001042594 exon13 c.68419+1306C>T 0.581669 0.5099 Uncertain 7_124540772_T->C 7 124540772 124540772 T C snp 54.74 1/1 6 2 0 2 1.0 intronic rs4501523 POT1 AD NM_001042594 exon15 c.74413+2344T>C 0.58147 0.5099 Uncertain 7_124540841_A->C 7 124540841 124540841 A C snp 382.77 1/1 30 14 0 14 1.0 intronic rs4383910 POT1 AD NM_001042594 exon15 c.74413+2413A>C 0.58147 0.5099 0.5471 0.4677 Uncertain 7_124540872_C->T 7 124540872 124540872 C T snp 645.77 1/1 48 25 0 25 1.0 intronic rs7782354 POT1 AD NM_001042594 exon15 c.74413+2444C>T 0.58147 0.5099 0.6052 0.4766 Uncertain 7_124540969_C->G 7 124540969 124540969 C G snp 1187.77 1/1 84 43 0 43 1.0 intronic rs7782525 POT1 AD NM_001042594 exon15 c.74413+2541C>G Uncertain 7_124541022_T->C 7 124541022 124541022 T C snp 563.77 0/1 99 31 6 25 0.81 intronic rs7801755 POT1 AD NM_001042594 exon15 c.74413+2594T>C 0.307308 0.2024 Uncertain 7_125588526_G->A 7 125588526 125588526 G A snp 85.77 0/1 30 4 1 3 0.75 intergenic rs28739406 LOC101928283 AU Uncertain 7_125588595_A->G 7 125588595 125588595 A G snp 306.77 0/1 99 24 9 15 0.63 intergenic rs145061493 LOC101928283 AU 0.0061901 0.0149 Uncertain 7_125588597_G->A 7 125588597 125588597 G A snp 296.77 0/1 99 25 10 15 0.6 intergenic rs543304057 LOC101928283 AU 0.00519169 0.0109 Uncertain 7_125588728_C->T 7 125588728 125588728 C T snp 426.77 0/1 99 37 17 20 0.54 intergenic rs17149089 LOC101928283 AU 0.365415 0.374 Uncertain 7_125753485_C->A 7 125753485 125753485 C A snp 518.77 1/1 39 14 0 14 1.0 intergenic rs1419526 LOC101928283 AU 0.937101 0.996 Uncertain 7_125753551_A->G 7 125753551 125753551 A G snp 1816.77 1/1 99 66 0 66 1.0 intergenic rs1419527 LOC101928283 AU 0.936901 0.996 Uncertain 7_125753556_-->G 7 125753556 125753556 - G indel 2831.73 1/1 99 68 0 68 1.0 intergenic rs5887285 LOC101928283 AU 0.937101 0.996 Uncertain 7_125753603_A->G 7 125753603 125753603 A G snp 2480.77 1/1 99 95 0 95 1.0 intergenic rs1419528 LOC101928283 AU 0.937101 0.996 Uncertain 7_125753636_A->G 7 125753636 125753636 A G snp 2749.77 1/1 99 105 0 105 1.0 intergenic rs1419529 LOC101928283 AU 0.986821 1 Uncertain 7_125753737_A->C 7 125753737 125753737 A C snp 1180.77 1/1 87 35 0 35 1.0 intergenic rs4395830 LOC101928283 AU 0.937101 0.996 Uncertain 7_126079144_A->G 7 126079144 126079144 A G snp 1140.77 0/1 99 82 27 55 0.67 UTR3 rs712723 GRM8 AU 0.404752 0.38 0.408119 0.4109 0.4042 Uncertain 7_126342069_T->G 7 126342069 126342069 T G snp 170.77 0/1 99 20 13 7 0.35 intronic rs75084893 GRM8 AU NM_000845 exon5 c.330746-67849T>G 0.000599042 0.003 Uncertain 7_126544012_T->C 7 126544012 126544012 T C snp 842.77 1/1 66 49 0 49 1.0 intronic rs769199 GRM8 AU NM_000845 exon7 c.464853-13T>C 0.821086 0.9702 0.7398 0.9659 Uncertain 7_127017391_A->C 7 127017391 127017391 A C snp 175.77 0/1 99 22 13 9 0.41 intronic rs17862368 ZNF800 AU NM_176814 exon3 c.5516+8A>C 0.124002 0.0694 0.157615 0.1633 0.0675 Uncertain 7_127224193_A->G 7 127224193 127224193 A G snp 1508.77 1/1 99 55 0 55 1.0 intronic rs3735643 GCC1 AU NM_024523 exon2 c.2137-11A>G 0.798522 0.9444 0.719360 0.7073 0.9587 Uncertain 7_127230276_A->C 7 127230276 127230276 A C snp 82.77 0/1 99 7 3 4 0.57 intronic rs1419428 ARF5 AU NM_001662 exon4 c.1639+85A>C 0.578674 0.8423 Uncertain 7_127232201_A->G 7 127232201 127232201 A G snp 124.03 1/1 12 4 0 4 1.0 downstream rs10808230 ARF5 AU 0.994808 1 Uncertain 7_127233977_G->T 7 127233977 127233977 G T snp 1162.77 0/1 99 98 45 53 0.54 exonic rs3779536 FSCN3 AU nonsynonymous SNV NM_020369 exon1 c.G70T p.A24S 0.110623 0.0784 0.077503 0.1014 0.1275 0.77 T 1.0 P -1.085 T 0.999 D 0.978 D Pathogenic 7_127236338_C->G 7 127236338 127236338 C G snp 431.77 0/1 99 39 21 18 0.46 intronic rs3735640 FSCN3 AU NM_020369 exon3 c.2474-43C>G 0.102436 0.0516 0.101799 0.1209 0.0623 Uncertain 7_127250907_T->C 7 127250907 127250907 T C snp 1494.77 1/1 99 52 0 52 1.0 UTR3 rs712700 PAX4 AU,AD 0.669329 0.3591 0.7632 0.3577 0.0 P Uncertain 7_127251188_T->G 7 127251188 127251188 T G snp 966.77 1/1 69 38 0 38 1.0 exonic rs712701 PAX4 AU,AD nonsynonymous SNV NM_006193 exon9 c.A962C p.H321P 0.670527 0.3591 0.768917 0.7578 0.4202 0.24 T 0.000 P -0.966 T 0.0 T 0.0 T CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000117896.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 ID=CM051949;DIS=Diabetes, type 1, association with;TAG=DP;PUB=15834548 DP Pathogenic 7_127253714_-->G 7 127253714 127253714 - G indel 777.73 1/1 54 18 0 18 1.0 intronic rs3835004 PAX4 AU,AD NM_006193 exon6 c.2692-95insG 0.67492 0.3641 Uncertain 7_127254457_G->A 7 127254457 127254457 G A snp 1048.77 1/1 75 40 0 40 1.0 intronic rs594141 PAX4 AU,AD NM_006193 exon7 c.3418-78G>A 0.607827 0.3145 Uncertain 7_127255285_C->G 7 127255285 127255285 C G snp 2137.77 1/1 99 56 0 56 1.0 intronic rs698406 PAX4 AU,AD NM_006193 exon8 c.4032+136C>G 0.67492 0.3641 0.7517 0.3976 Uncertain 7_127255795_C->G 7 127255795 127255795 C G snp 896.77 1/1 66 27 0 27 1.0 upstream rs327516 PAX4 AU,AD 0.602436 0.3145 Uncertain 7_127447499_A->T 7 127447499 127447499 A T snp 931.77 1/1 69 28 0 28 1.0 intronic rs325440 SND1 AU NM_014390 exon11 c.155110-38A>T 0.758986 0.9167 0.653160 0.6671 0.9099 Uncertain 7_127669857_A->T 7 127669857 127669857 A T snp 3839.77 1/1 99 137 1 136 0.99 exonic rs3823994 LRRC4 AU synonymous SNV NM_022143 exon2 c.T837A p.S279S 0.352835 0.1984 0.311241 0.3094 0.2108 Uncertain 7_127670809_G->T 7 127670809 127670809 G T snp 146.77 0/1 99 22 16 6 0.27 intronic LRRC4 AU NM_022143 exon1 c.2062+16G>T Uncertain 7_127714491_G->A 7 127714491 127714491 G A snp 779.77 1/1 60 22 0 22 1.0 intronic rs225241 SND1 AU NM_014390 exon17 c.422126-62G>A 0.417532 0.245 Uncertain 7_127721507_T->C 7 127721507 127721507 T C snp 6325.77 1/1 99 237 0 237 1.0 exonic rs322825 SND1 AU synonymous SNV NM_014390 exon18 c.T2064C p.T688T 0.672524 0.3294 0.750730 0.6422 0.3308 Uncertain 7_127894305_G->A 7 127894305 127894305 G A snp 220.84 1/1 18 6 0 6 1.0 intronic rs3828942 LEP AR NM_000230 exon3 c.2385-151G>A 0.423922 0.7192 Uncertain 7_127950725_G->A 7 127950725 127950725 G A snp 526.77 0/1 99 32 13 19 0.59 UTR3 rs12850 RBM28 AR 0.339856 0.5992 Uncertain 7_127957602_A->C 7 127957602 127957602 A C snp 159.77 0/1 63 7 2 5 0.71 intronic rs2290225 RBM28 AR NM_018077 exon4 c.6862-109A>C 0.48762 0.7946 Uncertain 7_127957893_T->C 7 127957893 127957893 T C snp 1661.77 0/1 99 146 81 65 0.45 intronic rs2290226 RBM28 AR NM_018077 exon4 c.6937+107T>C 0.342652 0.2073 Uncertain 7_127973133_T->C 7 127973133 127973133 T C snp 246.77 0/1 99 29 20 9 0.31 intronic rs359650 RBM28 AR NM_018077 exon11 c.22494-210T>C 0.679513 0.4028 Uncertain 7_127976119_G->T 7 127976119 127976119 G T snp 1635.77 0/1 99 107 50 57 0.53 intronic rs359651 RBM28 AR NM_018077 exon13 c.25247+23G>T 0.523762 0.1736 0.582667 0.4882 0.1937 Uncertain 7_127977304_C->T 7 127977304 127977304 C T snp 872.77 0/1 99 97 58 39 0.4 intronic rs11496082 RBM28 AR NM_018077 exon14 c.26407+48C>T 0.103834 0.0377 0.152237 0.1500 0.0417 Uncertain 7_127991133_G->A 7 127991133 127991133 G A snp 2594.77 1/1 99 93 0 93 1.0 exonic rs891215 PRRT4 AU nonsynonymous SNV NM_001174164 exon6 c.C2477T p.P826L 0.436302 0.3462 0.5590 0.3938 0.1 T 0.0 P -0.973 T 0.164 T 0.038 T Pathogenic 7_127992437_C->G 7 127992437 127992437 C G snp 2151.77 1/1 99 75 0 75 1.0 exonic rs1651945 PRRT4 AU synonymous SNV NM_001174164 exon6 c.G1173C p.R391R 0.757388 0.5278 0.9040 0.5368 Uncertain 7_127992854_T->G 7 127992854 127992854 T G snp 139.03 1/1 12 4 0 4 1.0 intronic rs6959179 PRRT4 AU NM_001114726 exon2 c.1447+122T>G 0.499201 0.372 Uncertain 7_127999645_C->T 7 127999645 127999645 C T snp 880.77 0/1 99 89 48 41 0.46 exonic rs56272205 PRRT4 AU nonsynonymous SNV NM_001114726 exon2 c.G401A p.R134Q 0.122204 0.1131 0.133377 0.1869 0.1275 0.35 T 0.0 P -1.035 T 0.357 T 0.075 T Pathogenic 7_128000091_G->A 7 128000091 128000091 G A snp 378.77 0/1 99 20 6 14 0.7 UTR5 rs359642 PRRT4 AU 0.675319 0.3919 0.7507 0.3937 Uncertain 7_128034629_C->T 7 128034629 128034629 C T snp 504.77 0/1 99 48 27 21 0.44 exonic rs2228075 IMPDH1 AU,AD synonymous SNV NM_000883 exon15 c.G1575A p.A525A 0.277556 0.3839 0.240274 0.2676 0.3654 Uncertain 7_128035131_C->- 7 128035131 128035131 C - indel 934.73 0/1 99 76 41 35 0.46 intronic rs398088122 IMPDH1 AU,AD NM_000883 exon4 c.2027+44delC 0.0882588 0.2034 0.030591 0.0537 0.2103 Uncertain 7_128040699_C->T 7 128040699 128040699 C T snp 607.77 1/1 45 24 0 24 1.0 intronic rs2278294 IMPDH1 AU,AD NM_000883 exon10 c.7533+106C>T 0.441094 0.5685 Uncertain 7_128049573_C->T 7 128049573 128049573 C T snp 528.77 0/1 99 58 35 23 0.4 intronic rs2288551 IMPDH1 AU,AD NM_000883 exon16 c.16478+35C>T 0.104633 0.2063 0.047901 0.0583 0.2129 Uncertain 7_128049590_C->A 7 128049590 128049590 C A snp 394.77 0/1 99 45 25 20 0.44 intronic rs2288552 IMPDH1 AU,AD NM_000883 exon16 c.16478+52C>A 0.104633 0.2063 0.045930 0.0583 0.2129 Uncertain 7_128095876_A->G 7 128095876 128095876 A G snp 1929.77 1/1 99 62 0 62 1.0 upstream rs2732393 HILPDA AU 0.996206 1 0.9996 1 Uncertain 7_128095879_C->G 7 128095879 128095879 C G snp 777.77 0/1 99 64 35 29 0.45 upstream rs2288555 HILPDA AU 0.123003 0.2143 0.1030 0.1735 Uncertain 7_128102508_-->TCTT 7 128102508 128102508 - TCTT indel 824.73 1/1 39 14 0 14 1.0 intergenic rs10647404 HILPDA AU 0.346645 0.3938 Uncertain 7_128102522_C->A 7 128102522 128102522 C A snp 149.77 0/1 63 8 2 6 0.75 intergenic rs146061361 HILPDA AU 0.0896565 0.2183 Uncertain 7_128117227_G->A 7 128117227 128117227 G A snp 1709.77 0/1 99 157 81 76 0.48 exonic rs2288557 METTL2B AU nonsynonymous SNV NM_018396 exon2 c.G202A p.V68I 0.146366 0.3363 0.057358 0.1085 0.3315 0.19 T 1.0 P -0.913 T 0.002 T 0.011 T Pathogenic 7_128117343_A->C 7 128117343 128117343 A C snp 459.77 0/1 99 29 10 19 0.66 intronic rs2288558 METTL2B AU NM_018396 exon2 c.408+116A>C 0.0882588 0.1984 Uncertain 7_128119379_T->C 7 128119379 128119379 T C snp 317.77 0/1 99 250 215 35 0.14 exonic rs2896399 METTL2B AU nonsynonymous SNV NM_018396 exon3 c.T370C p.C124R 0.0004 0.0003 0.53 T 1 N -0.911 T 0.0 T 0.0 T ID=COSM1131716;OCCURENCE=1(prostate) Pathogenic 7_128119380_G->C 7 128119380 128119380 G C snp 328.77 0/1 99 250 215 35 0.14 exonic rs1053120 METTL2B AU nonsynonymous SNV NM_018396 exon3 c.G371C p.C124S 0.0004 0.0003 0.73 T 1 N -0.882 T 0.0 T 0.0 T ID=COSM3662914;OCCURENCE=2(liver) Pathogenic 7_128119648_T->C 7 128119648 128119648 T C snp 162.77 0/1 99 70 52 18 0.26 intronic rs2732418 METTL2B AU NM_018396 exon3 c.2748+81T>C Uncertain 7_128120810_G->T 7 128120810 128120810 G T snp 245.77 0/1 99 60 37 23 0.38 intronic rs139670586 METTL2B AU NM_018396 exon4 c.3931+60G>T 0.233626 0.3363 Uncertain 7_128128133_T->C 7 128128133 128128133 T C snp 1024.77 1/1 90 60 0 60 1.0 intronic rs2732429 METTL2B AU NM_018396 exon5 c.11335-21T>C 0.0935 0.3094 Uncertain 7_128133984_G->A 7 128133984 128133984 G A snp 3503.77 1/1 99 135 0 135 1.0 exonic rs2562741 METTL2B AU nonsynonymous SNV NM_018396 exon6 c.G796A p.V266I 0.974241 1 0.971154 0.9920 1 1 T 0.000 P -0.985 T 0.0 T 0.003 T Pathogenic 7_128140982_T->C 7 128140982 128140982 T C snp 2380.77 0/1 99 201 102 99 0.49 exonic rs10257897 METTL2B AU synonymous SNV NM_018396 exon8 c.T942C p.Y314Y 0.358227 0.2877 0.398800 0.3711 0.3062 Uncertain 7_128141083_A->G 7 128141083 128141083 A G snp 2118.77 0/1 99 137 53 84 0.61 intronic rs10271878 METTL2B AU NM_018396 exon8 c.24203+61A>G 0.277955 0.251 0.287248 Uncertain 7_128141136_T->G 7 128141136 128141136 T G snp 1034.77 0/1 99 51 16 35 0.69 intronic rs3802007 METTL2B AU NM_018396 exon8 c.24203+114T>G 0.277955 0.251 Uncertain 7_128141865_T->C 7 128141865 128141865 T C snp 6862.77 1/1 99 249 0 249 1.0 exonic rs1053124 METTL2B AU synonymous SNV NM_018396 exon9 c.T1032C p.N344N 0.78095 0.7163 0.786637 0.7811 0.7469 Uncertain 7_128142023_A->T 7 128142023 128142023 A T snp 1997.77 0/1 99 145 65 80 0.55 UTR3 rs12539729 METTL2B AU 0.513179 0.379 Uncertain 7_128220111_G->T 7 128220111 128220111 G T snp 1319.77 0/1 99 205 127 78 0.38 intergenic rs139965573 METTL2B AU 0.330871 0.5635 Uncertain 7_128312450_C->T 7 128312450 128312450 C T snp 797.77 0/1 99 62 28 34 0.55 UTR5 rs11769769 FAM71F2 AU 0.358427 0.3581 0.319773 0.4203 0.4063 Uncertain 7_128315588_T->A 7 128315588 128315588 T A snp 1565.77 ./1 99 53 0 53 1.0 intronic rs13308199 FAM71F2 AU NM_001012454 exon2 c.3250-113T>A 0.213658 0.3958 Uncertain 7_128315588_T->C 7 128315588 128315588 T C snp 1565.77 ./1 99 53 0 53 1.0 intronic rs13308199 FAM71F2 AU NM_001012454 exon2 c.3250-113T>C 0.786342 0.6042 Uncertain 7_128315672_-->TTC 7 128315672 128315672 - TTC indel 4041.73 0/1 99 161 84 77 0.48 intronic rs398073138 FAM71F2 AU NM_001012454 exon2 c.3250-29insTTC 0.330871 0.5615 0.264243 0.3091 0.5388 Uncertain 7_128315791_C->G 7 128315791 128315791 C G snp 1775.77 0/1 99 168 84 84 0.5 exonic rs61738927 FAM71F2 AU synonymous SNV NM_001012454 exon2 c.C243G p.V81V 0.335463 0.5615 0.268785 0.3065 0.5436 Uncertain 7_128315882_C->A 7 128315882 128315882 C A snp 767.77 0/1 99 67 36 31 0.46 exonic rs17169357 FAM71F2 AU nonsynonymous SNV NM_001012454 exon2 c.C334A p.P112T 0.330471 0.5615 0.264229 0.3058 0.5450 0.44 T 0.0 P -0.923 T 0.047 T 0.033 T Pathogenic 7_128317658_C->T 7 128317658 128317658 C T snp 702.77 0/1 99 64 34 30 0.47 exonic rs6467210 FAM71F2 AU nonsynonymous SNV NM_001012454 exon3 c.C406T p.R136W 0.330871 0.5615 0.262708 0.3246 0.5600 0.07 T 0.059 P -0.915 T 0.999 D 0.873 D Pathogenic 7_128317882_T->C 7 128317882 128317882 T C snp 506.77 0/1 99 39 19 20 0.51 intronic rs7797745 FAM71F2 AU NM_001128926 exon3 c.5416+15T>C 0.330671 0.5615 0.262042 0.3183 0.5540 Uncertain 7_128317932_TG->- 7 128317932 128317933 TG - indel 315.73 0/1 99 13 4 9 0.69 intronic rs139645567 FAM71F2 AU NM_001128926 exon3 c.5416+65_5416+66delTG 0.358227 0.3581 Uncertain 7_128319980_T->A 7 128319980 128319980 T A snp 941.77 0/1 99 80 40 40 0.5 intronic rs2290230 FAM71F2 AU NM_001128926 exon4 c.7633-104T>A 0.00878594 0.0437 Uncertain 7_128319982_A->T 7 128319982 128319982 A T snp 953.77 0/1 99 84 43 41 0.49 intronic rs2290229 FAM71F2 AU NM_001128926 exon4 c.7633-102A>T 0.330471 0.5615 Uncertain 7_128322918_A->G 7 128322918 128322918 A G snp 393.77 0/1 99 37 22 15 0.41 intronic rs4554406 FAM71F2 AU NM_001128926 exon5 c.10566-99A>G 0.331669 0.5635 Uncertain 7_128323034_A->G 7 128323034 128323034 A G snp 1305.77 0/1 99 171 112 59 0.35 exonic rs1109552 FAM71F2 AU nonsynonymous SNV NM_001012454 exon5 c.A751G p.I251V 0.331669 0.5635 0.265518 0.3450 0.5591 1 T 0.0 P -0.969 T 0.102 T 0.038 T Pathogenic 7_128355458_A->G 7 128355458 128355458 A G snp 540.77 0/1 99 31 10 21 0.68 UTR5 rs3807127 FAM71F1 AU 0.108626 0.2381 0.044595 0.1048 0.2322 Uncertain 7_128355909_T->C 7 128355909 128355909 T C snp 262.77 0/1 99 12 4 8 0.67 intronic rs75840807 FAM71F1 AU NM_032599 exon1 c.249+165T>C 0.159345 0.253 Uncertain 7_128358839_T->C 7 128358839 128358839 T C snp 1038.77 0/1 99 88 49 39 0.44 intronic rs17162583 FAM71F1 AU NM_032599 exon3 c.3389-45T>C 0.15655 0.2391 0.091958 0.1385 0.2372 Uncertain 7_128358865_G->T 7 128358865 128358865 G T snp 1082.77 0/1 99 103 58 45 0.44 intronic rs77362226 FAM71F1 AU NM_032599 exon3 c.3389-19G>T 0.117612 0.2391 0.049362 0.1096 0.2337 Uncertain 7_128359133_C->T 7 128359133 128359133 C T snp 753.77 0/1 99 59 31 28 0.47 exonic rs6949056 FAM71F1 AU nonsynonymous SNV NM_001282788 exon3 c.C683T p.S228L 0.251198 0.4077 0.205751 0.2400 0.3801 0.11 T 0.0 P -0.960 T 0.985 D 0.338 D Pathogenic 7_128364895_A->G 7 128364895 128364895 A G snp 1003.77 0/1 99 94 50 44 0.47 intronic rs6952563 FAM71F1 AU NM_032599 exon4 c.7877+1523A>G 0.270767 0.4315 0.1919 0.4175 Uncertain 7_128369870_G->A 7 128369870 128369870 G A snp 1254.77 0/1 99 96 50 46 0.48 intronic rs12667612 FAM71F1 AU NM_032599 exon6 c.14460-85G>A 0.21246 0.4315 Uncertain 7_128370193_A->G 7 128370193 128370193 A G snp 258.8 1/1 21 7 0 7 1.0 intronic rs339067 FAM71F1 AU NM_032599 exon6 c.14628+70A>G 0.451478 0.623 Uncertain 7_128371206_G->A 7 128371206 128371206 G A snp 6701.77 1/1 99 246 0 246 1.0 UTR3 rs339066 FAM71F1 AU 0.70627 0.753 0.627480 0.6383 0.7446 Uncertain 7_128371298_C->T 7 128371298 128371298 C T snp 1263.77 0/1 99 128 73 55 0.43 UTR3 rs339065 FAM71F1 AU 0.205871 0.1915 Uncertain 7_128371415_C->G 7 128371415 128371415 C G snp 43.77 0/1 72 4 2 2 0.5 UTR3 rs101721 FAM71F1 AU 0.422324 0.3214 Uncertain 7_128434900_T->C 7 128434900 128434900 T C snp 738.77 0/1 99 70 36 34 0.49 intronic rs3736279 CCDC136 AU NM_001201372 exon4 c.3275+78T>C 0.155351 0.2014 Uncertain 7_128444820_A->G 7 128444820 128444820 A G snp 1155.77 0/1 99 114 64 50 0.44 splicing rs2291573 CCDC136 AU NM_001201372 exon6 c.13268+5A>G 0.151957 0.2004 0.156814 0.2081 0.2729 Pathogenic 7_128445370_G->A 7 128445370 128445370 G A snp 717.77 0/1 99 46 19 27 0.59 intronic rs1565629 CCDC136 AU NM_001201372 exon7 c.13865-42G>A 0.153355 0.1994 0.160328 0.1444 0.1834 Uncertain 7_128447054_C->A 7 128447054 128447054 C A snp 254.77 0/1 99 15 5 10 0.67 intronic rs35456642 CCDC136 AU NM_022742 exon9 c.14447+142C>A 0.250799 0.3562 Uncertain 7_128449405_G->A 7 128449405 128449405 G A snp 119.77 0/1 99 7 3 4 0.57 intronic rs2307037 CCDC136 AU NM_022742 exon11 c.17038-98G>A 0.163738 0.2262 Uncertain 7_128451353_-->AGAGAGCCTGGGA 7 128451353 128451353 - AGAGAGCCTGGGA indel 7058.73 1/1 99 46 0 46 1.0 intronic rs111409895 CCDC136 AU NM_022742 exon13 c.19388-500insAGAGAGCCTGGGA 0.765775 0.7897 0.6894 0.705 Uncertain 7_128451741_T->C 7 128451741 128451741 T C snp 230.77 0/1 99 14 5 9 0.64 intronic rs17165198 CCDC136 AU NM_022742 exon13 c.19388-112T>C 0.154353 0.2004 Uncertain 7_128455767_C->G 7 128455767 128455767 C G snp 1335.77 1/1 96 47 0 47 1.0 exonic rs4728137 CCDC136 AU nonsynonymous SNV NM_022742 exon16 c.C3145G p.Q1049E 0.993211 1 0.994275 0.9977 1 1 T 0.0 P -1.025 T 0.0 T 0.0 T Pathogenic 7_128455916_G->A 7 128455916 128455916 G A snp 2132.77 1/1 99 72 0 72 1.0 exonic rs2270590 CCDC136 AU synonymous SNV NM_022742 exon16 c.G3294A p.E1098E 0.421326 0.5833 0.297278 0.2533 0.5395 0.000 P -0.944 T Likely benign 7_128461720_G->A 7 128461720 128461720 G A snp 376.77 0/1 99 21 9 12 0.57 intronic rs3734974 CCDC136 AU NM_001201372 exon10 c.30305-132G>A 0.146166 0.1994 Uncertain 7_128470482_G->A 7 128470482 128470482 G A snp 48.74 1/1 6 2 0 2 1.0 upstream rs2639138 FLNC AU,AD 1 1 Uncertain 7_128470838_C->T 7 128470838 128470838 C T snp 2538.77 0/1 99 188 95 93 0.49 exonic rs3734972 FLNC AU,AD synonymous SNV NM_001458 exon1 c.C147T p.H49H 0.110024 0.1964 0.093740 0.0945 0.1796 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000117066.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 7_128477865_G->A 7 128477865 128477865 G A snp 653.77 0/1 99 66 37 29 0.44 intronic rs7787924 FLNC AU,AD NM_001458 exon5 c.7118+56G>A 0.197484 0.3264 Uncertain 7_128478103_C->T 7 128478103 128478103 C T snp 1122.77 0/1 99 85 33 52 0.61 exonic rs2291562 FLNC AU,AD synonymous SNV NM_001458 exon6 c.C1032T p.V344V 0.196486 0.3224 0.114705 0.0987 0.3229 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000117063.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 7_128480123_C->A 7 128480123 128480123 C A snp 1547.77 0/1 99 159 89 70 0.44 exonic rs2291563 FLNC AU,AD synonymous SNV NM_001458 exon9 c.C1458A p.P486P 0.196086 0.3125 0.105499 0.0835 0.3167 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000117065.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 7_128480791_C->G 7 128480791 128480791 C G snp 1435.77 0/1 99 101 46 55 0.54 intronic rs2291564 FLNC AU,AD NM_001458 exon10 c.10037+63C>G 0.298123 0.4018 Uncertain 7_128481196_T->C 7 128481196 128481196 T C snp 839.77 0/1 99 52 24 28 0.54 intronic rs2291565 FLNC AU,AD NM_001458 exon12 c.10532-27T>C 0.264976 0.378 0.150721 0.1256 0.3611 Uncertain 7_128482440_C->G 7 128482440 128482440 C G snp 1542.77 0/1 99 160 97 63 0.39 intronic rs2291566 FLNC AU,AD NM_001458 exon14 c.11737+12C>G 0.267372 0.379 0.155901 0.1318 0.3607 Uncertain 7_128483227_T->C 7 128483227 128483227 T C snp 157.77 0/1 99 17 9 8 0.47 intronic rs2291567 FLNC AU,AD NM_001458 exon17 c.12591-55T>C 0.361821 0.4901 0.265440 Uncertain 7_128484816_A->G 7 128484816 128484816 A G snp 2267.77 0/1 99 200 104 96 0.48 exonic rs3734973 FLNC AU,AD synonymous SNV NM_001458 exon21 c.A3297G p.V1099V 0.379992 0.4891 0.280718 0.2340 0.4585 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000117069.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 7_128486252_-->GGGCAGGTGGGCAGGGCC 7 128486252 128486252 - GGGCAGGTGGGCAGGGCC indel 7991.73 0/1 99 137 63 74 0.54 intronic rs138334624 FLNC AU,AD NM_001458 exon22 c.15526+35insGGGCAGGTGGGCAGGGCC 0.158147 0.3224 0.082090 0.0878 0.3167 Uncertain 7_128486363_C->T 7 128486363 128486363 C T snp 2072.77 0/1 99 160 76 84 0.53 exonic rs34373805 FLNC AU,AD synonymous SNV NM_001458 exon23 c.C3973T p.L1325L 0.346046 0.4335 0.283586 0.2290 0.4184 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_multiple_submitters\x2c_no_conflicts;CLNACC=RCV000117073.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 7_128486446_C->T 7 128486446 128486446 C T snp 2640.77 0/1 99 195 84 111 0.57 exonic rs75770585 FLNC AU,AD synonymous SNV NM_001458 exon23 c.C4056T p.R1352R 0.160543 0.3234 0.079522 0.0895 0.3258 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000117074.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 7_128487866_T->C 7 128487866 128487866 T C snp 2707.77 1/1 99 98 0 98 1.0 exonic rs2249128 FLNC AU,AD synonymous SNV NM_001458 exon25 c.T4404C p.D1468D 0.990615 1 0.991251 0.9973 1 Uncertain 7_128487893_G->A 7 128487893 128487893 G A snp 1043.77 0/1 99 90 44 46 0.51 exonic rs2291568 FLNC AU,AD synonymous SNV NM_001458 exon25 c.G4431A p.L1477L 0.257788 0.378 0.141766 0.1230 0.3610 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000117075.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 7_128488456_T->C 7 128488456 128488456 T C snp 100.77 0/1 99 12 7 5 0.42 intronic rs34692078 FLNC AU,AD NM_001458 exon27 c.17923-158T>C 0.394569 0.4891 Uncertain 7_128489317_G->A 7 128489317 128489317 G A snp 815.77 0/1 99 73 41 32 0.44 intronic rs188219077 FLNC AU,AD NM_001458 exon29 c.18567+59G>A 0.000599042 0.003 Uncertain 7_128490553_T->C 7 128490553 128490553 T C snp 178.77 0/1 99 26 16 10 0.38 intronic rs13227216 FLNC AU,AD NM_001458 exon32 c.19846+16T>C 0.403355 0.4891 0.312974 0.2633 0.4567 Uncertain 7_128491166_T->C 7 128491166 128491166 T C snp 441.77 0/1 99 28 12 16 0.57 intronic rs3816883 FLNC AU,AD NM_001458 exon34 c.20594-119T>C 0.259185 0.378 Uncertain 7_128491603_T->C 7 128491603 128491603 T C snp 2466.77 0/1 99 242 143 99 0.41 exonic rs3816884 FLNC AU,AD synonymous SNV NM_001458 exon35 c.T5763C p.T1921T 0.288938 0.378 0.186145 0.1324 0.3609 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000117079.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 7_128492527_G->A 7 128492527 128492527 G A snp 257.77 0/1 99 19 9 10 0.53 intronic rs76972396 FLNC AU,AD NM_001458 exon36 c.21953-117G>A 0.110623 0.3363 Uncertain 7_128492557_G->C 7 128492557 128492557 G C snp 385.77 0/1 99 37 22 15 0.41 intronic rs61044960 FLNC AU,AD NM_001458 exon36 c.21953-87G>C 0.28774 0.378 Uncertain 7_128492558_G->A 7 128492558 128492558 G A snp 415.77 0/1 99 38 22 16 0.42 intronic rs61191534 FLNC AU,AD NM_001458 exon36 c.21953-86G>A 0.287939 0.378 Uncertain 7_128493169_C->T 7 128493169 128493169 C T snp 232.77 0/1 99 12 4 8 0.67 intronic rs11971599 FLNC AU,AD NM_001458 exon37 c.22394+84C>T 0.235224 0.3641 Uncertain 7_128495338_C->T 7 128495338 128495338 C T snp 1732.77 0/1 99 159 78 81 0.51 exonic rs3816885 FLNC AU,AD synonymous SNV NM_001458 exon43 c.C7221T p.D2407D 0.258786 0.378 0.149109 0.1230 0.3591 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000117082.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 7_128495562_G->T 7 128495562 128495562 G T snp 116.77 0/1 66 6 2 4 0.67 intronic rs3778759 FLNC AU,AD NM_001458 exon43 c.24677+194G>T 0.15016 0.3224 Uncertain 7_128506970_T->C 7 128506970 128506970 T C snp 292.77 0/1 99 29 16 13 0.45 intronic rs4323418 LOC100130705 AU NM_001195150 exon1 c.421+86T>C 0.416933 0.5228 Uncertain 7_128508965_A->T 7 128508965 128508965 A T snp 74.77 0/1 99 9 5 4 0.44 UTR3 rs3736617 LOC100130705 AU 0.177915 0.3333 Uncertain 7_128520291_A->T 7 128520291 128520291 A T snp 83.77 0/1 69 5 2 3 0.6 intronic rs7786074 KCP AU NM_001135914 exon7 c.3343-148A>T 0.467053 0.5327 Uncertain 7_128520757_G->A 7 128520757 128520757 G A snp 74.77 0/1 99 6 3 3 0.5 intronic rs67147448 KCP AU NM_001135914 exon7 c.3486+175G>A 0.328075 0.369 Uncertain 7_128527093_T->G 7 128527093 128527093 T G snp 2398.77 0/1 99 192 94 98 0.51 intronic rs11982744 KCP AU NM_001135914 exon15 c.9924+73T>G 0.434505 0.5377 Uncertain 7_128531072_T->A 7 128531072 128531072 T A snp 67.77 0/1 96 17 10 7 0.41 exonic rs3734971 KCP AU unknown 0.229034 0.5357 0.2562 1 Uncertain 7_128532980_T->C 7 128532980 128532980 T C snp 1152.77 0/1 99 114 65 49 0.43 exonic rs7782976 KCP AU unknown 0.390575 0.5575 0.278581 0.2911 0.5772 Uncertain 7_128533514_-->C 7 128533514 128533514 - C indel 2514.73 1/1 99 66 0 66 1.0 exonic rs34061445 KCP AU unknown 1 1 0.999369 1 1 Uncertain 7_128542982_G->A 7 128542982 128542982 G A snp 1184.77 0/1 99 96 49 47 0.49 intronic rs11975930 KCP AU NM_199349 exon14 c.12626+70G>A 0.361222 0.5446 Uncertain 7_128543678_C->T 7 128543678 128543678 C T snp 1502.77 0/1 99 140 75 65 0.46 intronic rs6955736 KCP AU NM_199349 exon15 c.13493-101C>T 0.35643 0.5466 Uncertain 7_128544133_G->T 7 128544133 128544133 G T snp 1360.77 0/1 99 108 46 62 0.57 exonic rs56144153 KCP AU unknown 0.229233 0.5456 0.144766 0.2041 0.5349 Uncertain 7_128547512_G->A 7 128547512 128547512 G A snp 291.77 0/1 99 42 26 16 0.38 splicing rs6948542 KCP AU NM_199349 exon19 c.17220+6G>A 0.354233 0.5437 0.253833 0.2944 0.5528 Pathogenic 7_128548294_AAGAAAGAAAGAAGAAAGAAAGA->- 7 128548294 128548316 AAGAAAGAAAGAAGAAAGAAAGA - indel 1715.77 1/1 21 7 0 7 1.0 intronic rs758956579 KCP AU NM_199349 exon20 c.18192-184_18192-162delAAGAAAGAAAGAAGAAAGAAAGA Uncertain 7_128548463_A->C 7 128548463 128548463 A C snp 2744.77 0/1 99 249 133 116 0.47 intronic rs7786945 KCP AU NM_199349 exon20 c.18192-15A>C 0.370807 0.5446 0.2627 0.5441 Uncertain 7_128550577_C->T 7 128550577 128550577 C T snp 37.77 0/1 66 7 5 2 0.29 intronic rs75709678 KCP AU NM_199349 exon21 c.20367-76C>T 0.290935 0.5645 Uncertain 7_128550681_C->- 7 128550681 128550681 C - indel 1111.73 1/1 90 31 0 31 1.0 splicing rs11335250 KCP AU NM_199349 exon22 c.20395delC 1 1 0.999139 1 1 Pathogenic 7_128550894_G->A 7 128550894 128550894 G A snp 71.77 0/1 99 10 7 3 0.3 upstream rs1609545 KCP AU 0.359225 0.6052 Uncertain 7_128553100_T->G 7 128553100 128553100 T G snp 944.77 0/1 99 99 52 47 0.47 intergenic rs142966946 KCP AU 0.196286 0.1389 Uncertain 7_128587352_ACTCTGCAGCCGCCCACTCTGCGGCCGCCT->- 7 128587352 128587381 ACTCTGCAGCCGCCCACTCTGCGGCCGCCT - indel 7422.73 0/1 99 82 32 50 0.61 exonic rs199508964 IRF5 AU nonframeshift deletion NM_001098629 exon6 c.550_579del p.184_193del 0.484824 0.4425 0.490349 0.4737 0.4816 ID=COSM329668;OCCURENCE=1(breast),2(urinary_tract),2(ovary),2(endometrium),1(haematopoietic_and_lymphoid_tissue) Uncertain 7_128588475_C->A 7 128588475 128588475 C A snp 552.77 0/1 99 54 33 21 0.39 intronic rs75282194 IRF5 AU NM_032643 exon8 c.6247+93C>A 0.0497204 0.0933 Uncertain 7_128607384_G->A 7 128607384 128607384 G A snp 1299.77 0/1 99 134 75 59 0.44 exonic rs8043 TNPO3 AD synonymous SNV NM_012470 exon21 c.C2661T p.A887A 0.476837 0.4425 0.510610 0.4779 0.4839 Uncertain 7_128610484_A->G 7 128610484 128610484 A G snp 1774.77 1/1 99 56 0 56 1.0 intronic rs1691779 TNPO3 AD NM_001191028 exon4 c.13061+115A>G 0.989217 1 Uncertain 7_128612552_C->T 7 128612552 128612552 C T snp 1123.77 0/1 99 107 57 50 0.47 exonic rs11538884 TNPO3 AD synonymous SNV NM_012470 exon19 c.G2358A p.L786L 0.0497204 0.0933 0.038598 0.0527 0.0799 Uncertain 7_128614990_G->A 7 128614990 128614990 G A snp 1087.77 0/1 99 95 49 46 0.48 exonic rs2293493 TNPO3 AD synonymous SNV NM_012470 exon18 c.C2205T p.L735L 0.0469249 0.0933 0.034830 0.0516 0.0798 Uncertain 7_128615715_AAC->- 7 128615715 128615717 AAC - indel 888.73 0/1 99 28 11 17 0.61 intronic rs3830639 TNPO3 AD NM_001191028 exon7 c.18564-157_18564-155delAAC 0.0495208 0.0933 Uncertain 7_128630227_C->T 7 128630227 128630227 C T snp 2788.77 1/1 99 99 0 99 1.0 intronic rs1154329 TNPO3 AD NM_001191028 exon12 c.32846+73C>T 0.889577 0.9931 0.8707 0.9935 0.0 P -0.994 T 0.0 T 0.0 T Uncertain 7_128630313_T->C 7 128630313 128630313 T C snp 420.77 0/1 99 34 19 15 0.44 intronic rs6969930 TNPO3 AD NM_001191028 exon12 c.32846+159T>C 0.54992 0.4444 Uncertain 7_128633722_T->C 7 128633722 128633722 T C snp 44.77 0/1 33 3 1 2 0.67 intronic rs2305323 TNPO3 AD NM_001191028 exon14 c.36552-138T>C 0.244609 0.3155 Uncertain 7_128640334_A->T 7 128640334 128640334 A T snp 387.77 1/1 30 13 0 13 1.0 intronic rs4728144 TNPO3 AD NM_001191028 exon16 c.43174-148A>T 0.508187 0.4534 Uncertain 7_128641226_G->C 7 128641226 128641226 G C snp 1643.77 0/1 99 160 87 73 0.46 exonic rs2305324 TNPO3 AD synonymous SNV NM_012470 exon6 c.C759G p.L253L 0.341853 0.3988 0.371598 0.4097 0.4229 Uncertain 7_128645292_A->C 7 128645292 128645292 A C snp 35.77 0/1 64 9 6 3 0.33 intronic rs11768572 TNPO3 AD NM_001191028 exon18 c.47905+79A>C 0.267572 0.3155 Uncertain 7_128657277_T->C 7 128657277 128657277 T C snp 180.9 1/1 15 5 0 5 1.0 intronic rs3857852 TNPO3 AD NM_001191028 exon20 c.59802+167T>C 0.60024 0.5387 Uncertain 7_128694976_C->T 7 128694976 128694976 C T snp 552.77 0/1 99 31 13 18 0.58 UTR5 rs2242028 TNPO3 AD 0.645168 0.4514 Uncertain 7_128766505_A->C 7 128766505 128766505 A C snp 145.98 0/1 13 8 1 7 0.88 ncRNA_exonic rs6952057 LOC407835 AU Uncertain 7_128766528_G->C 7 128766528 128766528 G C snp 345.77 0/1 99 16 4 12 0.75 ncRNA_exonic rs10464697 LOC407835 AU 0.684904 0.7629 0.6122 0.5940 Uncertain 7_128766533_A->C 7 128766533 128766533 A C snp 419.77 0/1 99 19 5 14 0.74 ncRNA_exonic rs10464698 LOC407835 AU 0.684704 0.7629 0.6903 0.6612 Uncertain 7_128766553_A->G 7 128766553 128766553 A G snp 521.77 0/1 99 27 10 17 0.63 ncRNA_exonic rs6952077 LOC407835 AU 0.711462 0.7639 0.8039 0.7875 Uncertain 7_128767250_G->A 7 128767250 128767250 G A snp 2586.77 0/1 99 158 66 92 0.58 ncRNA_exonic rs61740497 LOC407835 AU 0.124201 0.2242 0.0963 0.3038 Uncertain 7_128767410_A->G 7 128767410 128767410 A G snp 2174.77 0/1 99 198 103 95 0.48 ncRNA_exonic rs10247566 LOC407835 AU 0.772364 0.7738 0.8572 0.8169 Uncertain 7_128767490_T->C 7 128767490 128767490 T C snp 1978.77 0/1 99 192 103 89 0.46 ncRNA_exonic rs7809681 LOC407835 AU 0.772364 0.7738 0.8765 0.8683 Uncertain 7_128767506_T->G 7 128767506 128767506 T G snp 1960.77 0/1 99 194 108 86 0.44 ncRNA_exonic rs7809687 LOC407835 AU 0.772364 0.7738 0.8816 0.8722 Uncertain 7_128784723_A->G 7 128784723 128784723 A G snp 216.84 1/1 18 6 0 6 1.0 UTR5 rs13309419 TSPAN33 AU Uncertain 7_128801715_G->A 7 128801715 128801715 G A snp 46.74 1/1 6 2 0 2 1.0 intronic rs34761481 TSPAN33 AU NM_178562 exon2 c.16757+138G>A 0.169928 0.1359 Uncertain 7_128802526_C->T 7 128802526 128802526 C T snp 2076.77 1/1 99 64 0 64 1.0 intronic rs2177950 TSPAN33 AU NM_178562 exon4 c.17853-147C>T 0.21226 0.1935 Uncertain 7_128804193_C->T 7 128804193 128804193 C T snp 1480.77 1/1 99 55 0 55 1.0 intronic rs71583815 TSPAN33 AU NM_178562 exon5 c.19494-121C>T 0.171526 0.1349 Uncertain 7_128804474_T->C 7 128804474 128804474 T C snp 980.77 1/1 72 33 1 32 0.97 intronic rs71583817 TSPAN33 AU NM_178562 exon5 c.19590+64T>C 0.171925 0.1369 Uncertain 7_128807732_T->G 7 128807732 128807732 T G snp 2425.77 1/1 99 88 0 88 1.0 UTR3 rs35331287 TSPAN33 AU 0.170927 0.1359 0.170152 0.1833 0.1458 Uncertain 7_128807786_G->A 7 128807786 128807786 G A snp 1152.77 1/1 84 36 0 36 1.0 UTR3 rs3173902 TSPAN33 AU 0.221446 0.1925 Uncertain 7_128843169_C->T 7 128843169 128843169 C T snp 489.77 0/1 99 28 12 16 0.57 intronic rs2566871 SMO AU NM_005631 exon2 c.14232-55C>T 0.461462 0.4206 Uncertain 7_128845018_C->T 7 128845018 128845018 C T snp 2761.77 0/1 99 205 94 111 0.54 intronic rs2703091 SMO AU NM_005631 exon3 c.16051-25C>T 0.752396 0.756 0.787944 0.7960 0.7579 Uncertain 7_128845277_G->C 7 128845277 128845277 G C snp 710.77 0/1 99 56 31 25 0.45 intronic rs2075777 SMO AU NM_005631 exon3 c.16261+24G>C 0.751997 0.756 0.790567 0.8012 0.7656 Uncertain 7_128845325_G->A 7 128845325 128845325 G A snp 794.77 0/1 99 68 40 28 0.41 intronic rs2566872 SMO AU NM_005631 exon3 c.16261+72G>A 0.752596 0.756 Uncertain 7_128845907_T->C 7 128845907 128845907 T C snp 386.77 0/1 99 34 20 14 0.41 intronic rs2075779 SMO AU NM_005631 exon5 c.16998-83T>C 0.752396 0.756 Uncertain 7_128846328_G->C 7 128846328 128846328 G C snp 3002.77 0/1 99 245 117 128 0.52 exonic rs2228617 SMO AU synonymous SNV NM_005631 exon6 c.G1164C p.G388G 0.75619 0.7718 0.789636 0.7975 0.7695 Uncertain 7_128846469_A->G 7 128846469 128846469 A G snp 611.77 0/1 99 50 28 22 0.44 intronic rs2735842 SMO AU NM_005631 exon6 c.17436+41A>G 0.753195 0.756 0.789482 0.7971 0.7598 Uncertain 7_128850084_T->G 7 128850084 128850084 T G snp 326.77 0/1 99 27 14 13 0.48 intronic rs4728158 SMO AU NM_005631 exon9 c.21211-119T>G 0.148363 0.2381 Uncertain 7_128852381_C->T 7 128852381 128852381 C T snp 1187.77 0/1 99 85 40 45 0.53 UTR3 rs2075780 SMO AU 0.184904 0.2371 Uncertain 7_129015894_C->T 7 129015894 129015894 C T snp 1057.77 0/1 99 115 71 44 0.38 intronic rs1559486 AHCYL2 AU NM_001130722 exon1 c.57+127C>T 0.349042 0.3552 Uncertain 7_129019736_G->A 7 129019736 129019736 G A snp 409.77 0/1 99 29 16 13 0.45 intronic rs2303303 AHCYL2 AU NM_015328 exon2 c.154673+146G>A 0.349441 0.3562 Uncertain 7_129029093_A->G 7 129029093 129029093 A G snp 495.77 0/1 99 40 21 19 0.47 intronic rs10954231 AHCYL2 AU NM_015328 exon3 c.164123+53A>G 0.482029 0.37 Uncertain 7_129029403_A->G 7 129029403 129029403 A G snp 607.77 0/1 99 45 22 23 0.51 intronic rs117913215 AHCYL2 AU NM_015328 exon4 c.164557-71A>G 0.00439297 0.0198 Uncertain 7_129045191_A->G 7 129045191 129045191 A G snp 63.77 0/1 92 10 7 3 0.3 intronic rs2402951 AHCYL2 AU NM_015328 exon8 c.180137+137A>G 0.887979 0.9742 Uncertain 7_129049507_A->G 7 129049507 129049507 A G snp 627.77 0/1 99 51 27 24 0.47 intronic rs6467244 AHCYL2 AU NM_015328 exon11 c.184470+120A>G 0.843251 0.9732 Uncertain 7_129073853_G->A 7 129073853 129073853 G A snp 671.77 0/1 99 75 42 33 0.44 upstream rs76387581 STRIP2 AU 0.0107827 0.0347 Uncertain 7_129091616_A->- 7 129091616 129091616 A - indel 317.73 0/1 99 16 6 10 0.63 intronic rs59179950 STRIP2 AU NM_001134336 exon4 c.17275+28delA 0.339856 0.3562 0.303994 0.2884 0.3290 Uncertain 7_129094195_T->C 7 129094195 129094195 T C snp 102.77 0/1 99 13 8 5 0.38 intronic rs581829 STRIP2 AU NM_001134336 exon7 c.19948-66T>C 0.879593 0.9653 Uncertain 7_129098439_T->C 7 129098439 129098439 T C snp 684.77 0/1 99 34 11 23 0.68 intronic rs691124 STRIP2 AU NM_001134336 exon11 c.24239-113T>C 0.352236 0.3552 Uncertain 7_129125750_G->T 7 129125750 129125750 G T snp 308.77 0/1 51 12 2 10 0.83 UTR3 rs692625 STRIP2 AU 0.342652 0.3552 Uncertain 7_129142694_C->G 7 129142694 129142694 C G snp 1431.77 0/1 99 122 58 64 0.52 intronic rs691332 SMKR1 AU NM_001195243 exon1 c.3+26C>G 0.845647 0.9712 0.8444 0.9840 Uncertain 7_129142775_G->A 7 129142775 129142775 G A snp 599.77 0/1 99 41 16 25 0.61 intronic rs610591 SMKR1 AU NM_001195243 exon1 c.3+107G>A 0.845647 0.9712 Uncertain 7_129297332_T->G 7 129297332 129297332 T G snp 1236.77 0/1 99 91 40 51 0.56 exonic rs1882094 NRF1 AU synonymous SNV NM_001040110 exon2 c.T141G p.S47S 0.424804 0.3892 0.6334 Uncertain 7_129349101_G->A 7 129349101 129349101 G A snp 283.77 0/1 99 22 13 9 0.41 intronic rs11769146 NRF1 AU NM_001040110 exon6 c.51882+28G>A 0.203275 0.1032 0.302245 0.3234 0.0984 Uncertain 7_129350170_A->C 7 129350170 129350170 A C snp 1043.77 0/1 99 68 34 34 0.5 intronic rs3736626 NRF1 AU NM_001040110 exon7 c.53022-43A>C 0.235224 0.1032 0.337998 0.3330 0.0975 Uncertain 7_129351444_C->G 7 129351444 129351444 C G snp 569.77 0/1 99 49 24 25 0.51 intronic rs1962038 NRF1 AU NM_001040110 exon8 c.54225+28C>G 0.203474 0.1032 0.302091 0.3737 0.1280 Uncertain 7_129356939_T->G 7 129356939 129356939 T G snp 333.77 0/1 99 22 10 12 0.55 intronic rs12154342 NRF1 AU NM_001040110 exon9 c.59867-119T>G 0.201677 0.1012 Uncertain 7_129479138_T->C 7 129479138 129479138 T C snp 810.77 0/1 99 53 19 34 0.64 exonic rs12539800 UBE2H AU synonymous SNV NM_182697 exon4 c.A243G p.L81L 0.0429313 0.0397 0.069122 0.0647 0.0444 Uncertain 7_129497198_C->T 7 129497198 129497198 C T snp 589.77 0/1 99 36 12 24 0.67 intronic rs75427537 UBE2H AU NM_001202498 exon3 c.22574-152C>T 0.0429313 0.0397 Uncertain 7_129497498_C->T 7 129497498 129497498 C T snp 261.77 0/1 99 26 15 11 0.42 intronic rs718925 UBE2H AU NM_001202498 exon3 c.22627+95C>T 0.0429313 0.0397 Uncertain 7_129498661_C->T 7 129498661 129498661 C T snp 358.77 0/1 99 49 32 17 0.35 intronic rs12532959 UBE2H AU NM_001202498 exon4 c.23965-80C>T 0.0409345 0.0397 0.070426 Uncertain 7_129504796_C->T 7 129504796 129504796 C T snp 1312.77 0/1 99 121 62 59 0.49 intronic rs12537336 UBE2H AU NM_001202498 exon4 c.24005+6015C>T 0.0421326 0.0397 Uncertain 7_129504870_G->A 7 129504870 129504870 G A snp 928.77 0/1 99 81 39 42 0.52 intronic rs12534061 UBE2H AU NM_001202498 exon4 c.24005+6089G>A 0.043131 0.0397 0.0379 0.0459 Uncertain 7_129592510_G->T 7 129592510 129592510 G T snp 512.77 0/1 99 34 17 17 0.5 UTR5 rs1045897 UBE2H AU 0.175319 0.0278 Uncertain 7_129658259_T->C 7 129658259 129658259 T C snp 174.9 1/1 15 5 0 5 1.0 UTR3 rs1997081 ZC3HC1 AU 0.986821 1 Uncertain 7_129658655_A->G 7 129658655 129658655 A G snp 557.77 1/1 42 17 0 17 1.0 intronic rs2242488 ZC3HC1 AU NM_016478 exon1 c.69+83A>G 0.57508 0.6954 Uncertain 7_129664312_T->C 7 129664312 129664312 T C snp 2138.77 1/1 99 82 0 82 1.0 exonic rs1464890 ZC3HC1 AU nonsynonymous SNV NM_001282191 exon7 c.A811G p.T271A 0.476038 0.6696 0.427803 0.5295 0.6990 0.68 T 0.000 P -0.945 T 0.007 T 0.014 T Pathogenic 7_129680994_-->TG 7 129680994 129680994 - TG indel 581.74 0/1 26 49 2 47 0.96 intronic rs34409527 ZC3HC1 AU NM_016478 exon8 c.22438+53insTG 0.534545 0.6716 Uncertain 7_129685455_A->- 7 129685455 129685455 A - indel 1485.73 1/1 99 39 0 39 1.0 intronic rs144454579 ZC3HC1 AU NM_016478 exon9 c.30369-3417delA 0.0734824 0.3214 Uncertain 7_129689178_A->C 7 129689178 129689178 A C snp 54.74 1/1 6 2 0 2 1.0 intronic rs6958171 ZC3HC1 AU NM_016478 exon9 c.30481+194A>C 0.768371 0.9901 Uncertain 7_129691309_C->G 7 129691309 129691309 C G snp 675.77 1/1 51 17 0 17 1.0 upstream rs867704 ZC3HC1 AU 0.482228 0.6736 Uncertain 7_129736880_G->A 7 129736880 129736880 G A snp 3491.77 1/1 99 128 0 128 1.0 intronic rs12531444 KLHDC10 AU NM_014997 exon2 c.26364+33G>A 0.299121 0.4276 0.322928 0.3519 0.4436 Uncertain 7_129806164_A->C 7 129806164 129806164 A C snp 237.77 0/1 60 10 3 7 0.7 UTR3 rs547359585 TMEM209 AU 0.000399361 0.002 Uncertain 7_129806441_C->T 7 129806441 129806441 C T snp 316.78 1/1 24 11 0 11 1.0 intronic rs4507710 TMEM209 AU NM_032842 exon1 c.55+96C>T 0.99381 1 Uncertain 7_129813738_T->C 7 129813738 129813738 T C snp 4903.77 1/1 99 192 0 192 1.0 exonic rs3823482 TMEM209 AU synonymous SNV NM_001301163 exon11 c.A1260G p.L420L 0.303514 0.5546 0.205635 0.2783 0.5889 Uncertain 7_129843794_T->G 7 129843794 129843794 T G snp 1184.77 0/1 99 95 46 49 0.52 intronic rs75424115 TMEM209 AU NM_032842 exon14 c.37523-19T>G 0.00539137 0.0268 0.0021 0.0298 Uncertain 7_129847482_C->T 7 129847482 129847482 C T snp 332.78 1/1 27 9 0 9 1.0 upstream rs2727837 SSMEM1 AU 0.991813 1 Uncertain 7_129853531_C->A 7 129853531 129853531 C A snp 330.78 1/1 27 9 0 9 1.0 intronic rs2727840 SSMEM1 AU NM_145268 exon2 c.5624+157C>A 0.566494 0.5456 Uncertain 7_129910463_C->G 7 129910463 129910463 C G snp 966.77 1/1 72 30 0 30 1.0 intronic rs2291457 CPA2 AU NM_001869 exon4 c.3811-69C>G 0.391573 0.6756 Uncertain 7_129910818_G->A 7 129910818 129910818 G A snp 168.9 1/1 15 6 0 6 1.0 intronic rs3816830 CPA2 AU NM_001869 exon4 c.3907+190G>A 0.680711 0.7877 Uncertain 7_129913520_T->C 7 129913520 129913520 T C snp 320.77 0/1 99 23 10 13 0.57 intronic rs10257530 CPA2 AU NM_001869 exon5 c.6296+503T>C 0.4265 0.5405 Uncertain 7_129916390_-->AC 7 129916390 129916390 - AC indel 748.73 0/1 99 32 13 19 0.59 intronic rs552486867 CPA2 AU NM_001869 exon7 c.9746-77insAC 0.338858 0.5605 Uncertain 7_129916515_T->C 7 129916515 129916515 T C snp 4554.77 1/1 99 165 0 165 1.0 exonic rs17590 CPA2 AU synonymous SNV NM_001869 exon7 c.T633C p.D211D 0.692292 0.7887 0.630248 0.6353 0.7804 Uncertain 7_129919517_C->T 7 129919517 129919517 C T snp 818.77 0/1 99 68 36 32 0.47 intronic rs2291458 CPA2 AU NM_001869 exon9 c.12781+15C>T 0.00519169 0.0258 0.0019 0.0255 Uncertain 7_129962360_A->G 7 129962360 129962360 A G snp 5649.77 1/1 99 204 0 204 1.0 exonic rs1569133 CPA4 AU synonymous SNV NM_016352 exon11 c.A1110G p.A370A 0.973043 1 0.971244 0.9921 1 Uncertain 7_129986226_T->A 7 129986226 129986226 T A snp 346.77 0/1 99 18 6 12 0.67 intronic CPA5 AU 0.59345 0.5347 Uncertain 7_129986236_T->C 7 129986236 129986236 T C snp 376.77 0/1 99 20 7 13 0.65 UTR5 CPA5 AU 0.59345 0.5347 Uncertain 7_129986338_C->T 7 129986338 129986338 C T snp 1447.77 0/1 99 134 72 62 0.46 exonic CPA5 AU synonymous SNV NM_001127442 exon2 c.C12T p.T4T 0.59345 0.5347 0.599800 0.5897 0.5410 Uncertain 7_129986521_T->C 7 129986521 129986521 T C snp 559.77 0/1 99 43 25 18 0.42 intronic CPA5 AU NM_001127442 exon2 c.116+79T>C 0.59385 0.5347 Uncertain 7_129987837_A->G 7 129987837 129987837 A G snp 86.28 1/1 9 3 0 3 1.0 intronic CPA5 AU NM_001127442 exon3 c.1362+149A>G 0.975439 1 Uncertain 7_129989878_T->C 7 129989878 129989878 T C snp 4061.77 1/1 99 149 0 149 1.0 exonic rs7808823 CPA5 AU synonymous SNV NM_001127442 exon4 c.T261C p.S87S 0.522963 0.5675 0.495925 0.5282 0.5724 Uncertain 7_129990103_G->A 7 129990103 129990103 G A snp 86.28 1/1 9 3 0 3 1.0 intronic CPA5 AU NM_001127442 exon4 c.3624+153G>A 0.521965 0.5516 Uncertain 7_130002317_T->C 7 130002317 130002317 T C snp 5354.77 1/1 99 206 0 206 1.0 exonic CPA5 AU synonymous SNV NM_001127442 exon7 c.T573C p.I191I 0.754393 0.9752 0.706059 0.8177 0.9746 Uncertain 7_130007901_A->T 7 130007901 130007901 A T snp 2417.77 0/1 99 170 72 98 0.58 intronic CPA5 AU NM_080385 exon12 c.21505+70A>T 0.575479 0.4425 Uncertain 7_130007913_T->G 7 130007913 130007913 T G snp 2098.77 0/1 99 135 54 81 0.6 intronic CPA5 AU NM_080385 exon12 c.21505+82T>G 0.569089 0.4435 Uncertain 7_130008159_A->G 7 130008159 130008159 A G snp 800.77 0/1 99 60 28 32 0.53 intronic CPA5 AU NM_001127442 exon11 c.21924-91A>G 0.357029 0.4177 Uncertain 7_130020569_A->G 7 130020569 130020569 A G snp 227.77 0/1 99 17 8 9 0.53 intronic CPA1 AU NM_001868 exon1 c.65+143A>G 0.546526 0.622 Uncertain 7_130021488_G->C 7 130021488 130021488 G C snp 2752.77 0/1 99 203 92 111 0.55 exonic CPA1 AU synonymous SNV NM_001868 exon3 c.G165C p.G55G 0.582268 0.621 0.550677 0.5368 0.5860 Uncertain 7_130023179_A->G 7 130023179 130023179 A G snp 1720.77 0/1 99 122 57 65 0.53 intronic CPA1 AU NM_001868 exon5 c.2870-52A>G 0.404553 0.4097 Uncertain 7_130024308_-->CC 7 130024308 130024308 - CC indel 631.73 0/1 99 48 29 19 0.4 intronic CPA1 AU NM_001868 exon7 c.4015-68insCC 0.387979 0.3998 Uncertain 7_130025895_A->G 7 130025895 130025895 A G snp 318.77 0/1 99 25 14 11 0.44 intronic CPA1 AU NM_001868 exon9 c.5403+131A>G 0.524561 0.624 Uncertain 7_130027633_A->G 7 130027633 130027633 A G snp 1256.77 0/1 99 102 53 49 0.48 intronic CPA1 AU NM_001868 exon10 c.7303-31A>G 0.416334 0.4107 0.401738 0.3868 0.3925 Uncertain 7_130080812_T->G 7 130080812 130080812 T G snp 6151.77 1/1 99 239 0 239 1.0 UTR5 CEP41 AR 0.478634 0.6696 0.371367 0.4493 0.6558 Uncertain 7_130136107_G->A 7 130136107 130136107 G A snp 139.03 1/1 12 6 0 6 1.0 intronic MEST AU NM_177524 exon2 c.154+744G>A 0.466653 0.6141 0.462314 Uncertain 7_130136902_G->T 7 130136902 130136902 G T snp 1759.77 1/1 99 63 0 63 1.0 intronic MEST AU NM_177524 exon3 c.1787-94G>T 0.458666 0.6131 Uncertain 7_130137692_A->G 7 130137692 130137692 A G snp 99.28 1/1 9 3 0 3 1.0 intronic MEST AU NM_177524 exon4 c.2567-84A>G 0.420128 0.6131 Uncertain 7_130138155_A->G 7 130138155 130138155 A G snp 7555.77 1/1 99 250 0 250 1.0 intronic MEST AU NM_177524 exon5 c.2907+39A>G 1 1 1 1 Uncertain 7_130140766_C->A 7 130140766 130140766 C A snp 2447.77 1/1 99 81 0 81 1.0 intronic MEST AU NM_177524 exon9 c.5522+35C>A 0.448482 0.6121 0.440181 0.5240 0.6041 Uncertain 7_130147307_T->G 7 130147307 130147307 T G snp 2565.77 1/1 99 79 0 79 1.0 intronic COPG2 AU NM_012133 exon2 c.697+94T>G 0.448682 0.6121 Uncertain 7_130148507_G->A 7 130148507 130148507 G A snp 653.77 0/1 99 65 38 27 0.42 splicing COPG2 AU NM_012133 exon4 c.1987+4G>A 0.416733 0.6062 0.401166 0.5354 0.6242 Pathogenic 7_130148562_-->TCTTAGGAAGTG 7 130148562 130148562 - TCTTAGGAAGTG indel 2036.73 1/1 45 15 0 15 1.0 intronic rs58927323 COPG2 AU NM_012133 exon4 c.1987+59insTCTTAGGAAGTG 1 1 Uncertain 7_130148903_A->G 7 130148903 130148903 A G snp 1614.77 1/1 99 50 1 49 0.98 intronic COPG2 AU NM_012133 exon4 c.1987+400A>G 0.446885 0.6121 0.441271 0.5347 0.6070 Uncertain 7_130149061_G->C 7 130149061 130149061 G C snp 2937.77 1/1 99 108 0 108 1.0 intronic COPG2 AU NM_012133 exon4 c.1987+558G>C 0.449481 0.6121 0.455979 Uncertain 7_130150705_G->A 7 130150705 130150705 G A snp 1951.77 1/1 99 69 0 69 1.0 intronic COPG2 AU NM_012133 exon4 c.1987+2202G>A 0.41873 0.6121 0.418309 Uncertain 7_130288599_A->- 7 130288599 130288599 A - indel 33.73 0/1 71 22 12 10 0.45 intronic COPG2 AU NM_012133 exon5 c.149307-7224delA Uncertain 7_130292531_T->C 7 130292531 130292531 T C snp 3923.77 1/1 99 130 1 129 0.99 intronic rs12706946 COPG2 AU NM_012133 exon5 c.149307-3292T>C 0.414537 0.6052 Uncertain 7_130297120_A->- 7 130297120 130297120 A - indel 3792.73 1/1 99 166 2 164 0.99 intronic rs34699820 COPG2 AU NM_012133 exon6 c.150593+11delA 0.735823 0.7202 0.7570 0.6939 Uncertain 7_130298550_C->T 7 130298550 130298550 C T snp 1456.77 1/1 99 43 0 43 1.0 intronic COPG2 AU NM_012133 exon7 c.151991+43C>T 0.753395 0.7232 0.821942 0.7896 0.7170 Uncertain 7_130354106_G->C 7 130354106 130354106 G C snp 4096.77 1/1 99 154 0 154 1.0 intronic rs10232683 TSGA13 AU NM_052933 exon1 c.170+83G>C 0.761781 0.7222 Uncertain 7_130418525_G->A 7 130418525 130418525 G A snp 1317.77 1/1 93 55 0 55 1.0 exonic KLF14 AU synonymous SNV NM_138693 exon1 c.C336T p.S112S 0.385383 0.5397 0.364178 0.5412 0.6324 Uncertain 7_130418720_A->C 7 130418720 130418720 A C snp 885.77 1/1 66 28 0 28 1.0 exonic KLF14 AU nonsynonymous SNV NM_138693 exon1 c.T141G p.H47Q 1 1 0.9959 1 0.52 T 0.0 P -0.916 T 0.004 T 0.004 T Pathogenic 7_131060277_G->A 7 131060277 131060277 G A snp 1961.77 1/1 99 75 0 75 1.0 intronic rs3823557 MKLN1 AU NM_013255 exon2 c.47594+25G>A 0.364617 0.5129 0.372442 0.3738 0.5042 Uncertain 7_131155588_G->T 7 131155588 131155588 G T snp 1129.77 1/1 81 41 0 41 1.0 intronic rs1733861 MKLN1 AU NM_013255 exon16 c.142942-12G>T 0.554313 0.6776 0.562731 0.5236 0.7048 Uncertain 7_131155764_T->C 7 131155764 131155764 T C snp 508.77 1/1 39 14 0 14 1.0 intronic rs1684172 MKLN1 AU NM_013255 exon16 c.143045+61T>C 0.39996 0.5228 Uncertain 7_131190696_T->C 7 131190696 131190696 T C snp 1393.77 0/1 99 101 42 59 0.58 exonic rs6651125 PODXL AU synonymous SNV NM_005397 exon7 c.A1314G p.A438A 0.356829 0.3026 0.346071 0.4427 0.4096 Uncertain 7_131195535_G->T 7 131195535 131195535 G T snp 893.77 1/1 66 32 0 32 1.0 intronic rs3847113 PODXL AU NM_005397 exon7 c.6517-51G>T 0.452875 0.6538 0.440879 Uncertain 7_131195712_G->A 7 131195712 131195712 G A snp 3473.77 1/1 99 124 0 124 1.0 exonic rs12670788 PODXL AU nonsynonymous SNV NM_005397 exon2 c.C581T p.S194L 0.363419 0.6518 0.349762 0.4282 0.6243 0.42 T 0.0 P -0.935 T 0.394 T 0.042 T Pathogenic 7_131195959_C->T 7 131195959 131195959 C T snp 4852.77 1/1 99 174 0 174 1.0 exonic rs3735035 PODXL AU nonsynonymous SNV NM_005397 exon2 c.G334A p.G112S 0.363818 0.6518 0.349070 0.4272 0.6225 0.74 T 0.0 P -0.952 T 0.029 T 0.002 T Pathogenic 7_131241030_GGCGAC->- 7 131241030 131241035 GGCGAC - indel 2476.73 0/1 99 96 62 34 0.35 exonic rs11277659 PODXL AU nonframeshift deletion NM_005397 exon1 c.84_89del p.28_30del 0.313299 0.3135 0.2699 0.2524 ID=COSM246696;OCCURENCE=2(prostate) Uncertain 7_131241085_G->A 7 131241085 131241085 G A snp 1097.77 0/1 99 148 92 56 0.38 exonic rs7780021 PODXL AU synonymous SNV NM_005397 exon1 c.C34T p.L12L 0.283347 0.3036 0.252094 0.3354 0.3494 Uncertain 7_131815118_C->T 7 131815118 131815118 C T snp 781.77 1/1 57 23 0 23 1.0 UTR3 rs10954359 PLXNA4 AU 0.534944 0.8323 Uncertain 7_131815220_G->A 7 131815220 131815220 G A snp 3027.77 1/1 99 118 0 118 1.0 UTR3 rs10954360 PLXNA4 AU 0.534944 0.8323 0.553659 0.6649 0.8307 Uncertain 7_131815310_A->G 7 131815310 131815310 A G snp 3378.77 1/1 99 119 0 119 1.0 exonic rs2671103 PLXNA4 AU synonymous SNV NM_020911 exon32 c.T5613C p.D1871D 0.898962 0.9296 0.862242 0.8878 0.9488 Uncertain 7_131815343_G->A 7 131815343 131815343 G A snp 2823.77 1/1 99 99 0 99 1.0 intronic rs10954361 PLXNA4 AU NM_020911 exon1 c.96+10G>A 0.66853 0.8333 0.697568 0.7378 0.8311 Uncertain 7_131832627_A->G 7 131832627 131832627 A G snp 1116.77 1/1 84 32 0 32 1.0 intronic rs1450882 PLXNA4 AU NM_020911 exon6 c.17421-31A>G 0.995407 1 0.993478 0.9925 1 Uncertain 7_131849204_T->A 7 131849204 131849204 T A snp 479.77 1/1 39 15 0 15 1.0 intronic rs896167 PLXNA4 AU NM_020911 exon9 c.33810+157T>A 0.815695 0.8978 Uncertain 7_131908468_T->C 7 131908468 131908468 T C snp 1617.77 1/1 99 53 0 53 1.0 intronic rs2290232 PLXNA4 AU NM_020911 exon24 c.93163+68T>C 0.489217 0.5754 Uncertain 7_131908566_A->T 7 131908566 131908566 A T snp 241.8 1/1 21 10 0 10 1.0 intronic rs2290233 PLXNA4 AU NM_020911 exon24 c.93163+166A>T 0.483626 0.5754 Uncertain 7_131915507_A->G 7 131915507 131915507 A G snp 2798.77 1/1 99 102 1 101 0.99 intronic rs1868781 PLXNA4 AU NM_020911 exon27 c.97991+2279A>G 0.711861 0.6984 Uncertain 7_131926112_C->G 7 131926112 131926112 C G snp 261.8 1/1 21 7 0 7 1.0 intronic rs3925378 PLXNA4 AU NM_020911 exon28 c.110688+187C>G 0.572284 0.6756 Uncertain 7_132409606_T->C 7 132409606 132409606 T C snp 1313.77 0/1 99 96 43 53 0.55 ncRNA_exonic rs594208 FLJ40288 AU 0.719649 0.7946 Uncertain 7_132570358_T->C 7 132570358 132570358 T C snp 281.77 0/1 57 17 3 14 0.82 intronic rs12707059 CHCHD3 AU NM_017812 exon4 c.100024-63T>C 0.273163 0.2312 Uncertain 7_132706981_G->A 7 132706981 132706981 G A snp 300.77 0/1 99 18 8 10 0.56 intronic rs17421819 CHCHD3 AU NM_017812 exon6 c.238908-2324G>A 0.204273 0.1825 Uncertain 7_132707171_C->T 7 132707171 132707171 C T snp 737.77 0/1 99 74 39 35 0.47 intronic rs6973587 CHCHD3 AU NM_017812 exon6 c.238908-2134C>T 0.127196 0.2093 0.0407 0.2010 Uncertain 7_132709293_C->T 7 132709293 132709293 C T snp 478.77 1/1 36 15 0 15 1.0 intronic rs13235276 CHCHD3 AU NM_017812 exon6 c.238908-12C>T 0.35643 0.3909 0.368061 0.3657 0.3953 Uncertain 7_132990536_-->T 7 132990536 132990536 - T indel 419.73 1/1 36 12 0 12 1.0 intronic rs397743298 EXOC4 AU NM_001037126 exon4 c.52773-94insT 1 1 Uncertain 7_133314615_G->A 7 133314615 133314615 G A snp 54.74 1/1 6 2 0 2 1.0 intronic rs10262044 EXOC4 AU NM_021807 exon10 c.376940-182G>A 0.978435 0.999 Uncertain 7_133580447_G->A 7 133580447 133580447 G A snp 1996.77 0/1 99 168 79 89 0.53 exonic rs2042456 EXOC4 AU synonymous SNV NM_021807 exon12 c.G1830A p.V610V 0.538139 0.4613 0.482008 0.4422 0.4527 Uncertain 7_133580545_A->G 7 133580545 133580545 A G snp 101.77 0/1 99 13 9 4 0.31 intronic rs2042455 EXOC4 AU NM_021807 exon12 c.642631+57A>G 0.538339 0.4623 Uncertain 7_133682181_T->C 7 133682181 133682181 T C snp 3804.77 1/1 99 137 0 137 1.0 intronic rs3735050 EXOC4 AU NM_021807 exon15 c.744387-63T>C 0.805711 0.9127 Uncertain 7_133749164_G->A 7 133749164 133749164 G A snp 6525.77 1/1 99 230 0 230 1.0 exonic rs6953296 EXOC4 AU synonymous SNV NM_021807 exon18 c.G2808A p.Q936Q 0.669129 0.7609 0.629171 0.6274 0.7592 Uncertain 7_133749328_-->T 7 133749328 133749328 - T indel 3844.73 1/1 99 125 0 125 1.0 UTR3 rs33995948 EXOC4 AU 0.211861 0.131 0.179872 0.1707 0.1181 Uncertain 7_133821619_A->G 7 133821619 133821619 A G snp 139.03 1/1 12 4 0 4 1.0 intronic rs13246630 LRGUK AU NM_144648 exon2 c.9655-156A>G 0.601238 0.4881 Uncertain 7_133833206_G->T 7 133833206 133833206 G T snp 99.28 1/1 9 3 0 3 1.0 intronic rs1222408 LRGUK AU NM_144648 exon5 c.20952+134G>T 0.99401 1 Uncertain 7_133868368_C->T 7 133868368 133868368 C T snp 1037.77 1/1 75 34 0 34 1.0 intronic rs1222420 LRGUK AU NM_144648 exon11 c.56365-117C>T 0.993411 1 Uncertain 7_133868507_C->T 7 133868507 133868507 C T snp 4792.77 1/1 99 177 0 177 1.0 exonic rs1222419 LRGUK AU synonymous SNV NM_144648 exon11 c.C1236T p.A412A 0.993211 1 0.991850 0.9973 1 Uncertain 7_133868568_C->T 7 133868568 133868568 C T snp 1825.77 0/1 99 161 82 79 0.49 exonic rs76794740 LRGUK AU nonsynonymous SNV NM_144648 exon11 c.C1297T p.R433C 0.0125799 0.0446 0.005613 0.0088 0.0435 0.03 T 1.000 D -0.656 T 1.0 D 0.999 D Pathogenic 7_133881676_G->T 7 133881676 133881676 G T snp 597.77 0/1 99 41 19 22 0.54 intronic LRGUK AU NM_144648 exon13 c.69623-67G>T Uncertain 7_133881920_TG->- 7 133881920 133881921 TG - indel 384.73 0/1 88 23 3 20 0.87 intronic rs10611703 LRGUK AU NM_144648 exon13 c.69737+63_69737+64delTG 0.89377 0.8581 Uncertain 7_133906416_C->G 7 133906416 133906416 C G snp 68.77 0/1 97 9 6 3 0.33 intronic rs17167644 LRGUK AU NM_144648 exon16 c.94410-114C>G 0.0860623 0.1438 Uncertain 7_133932180_A->G 7 133932180 133932180 A G snp 140.77 0/1 99 12 7 5 0.42 intronic rs60458153 LRGUK AU NM_144648 exon17 c.120187-127A>G 0.116414 0.1438 Uncertain 7_133932334_C->T 7 133932334 133932334 C T snp 2120.77 0/1 99 196 101 95 0.48 exonic rs2598264 LRGUK AU synonymous SNV NM_144648 exon17 c.C2010T p.H670H 0.116414 0.1438 0.079656 0.0523 0.1408 Uncertain 7_133932511_T->A 7 133932511 133932511 T A snp 275.77 0/1 99 39 28 11 0.28 intronic rs80099948 LRGUK AU NM_144648 exon17 c.120276+115T>A 0.116414 0.1438 Uncertain 7_133932524_A->C 7 133932524 133932524 A C snp 179.77 0/1 99 30 23 7 0.23 intronic rs74825262 LRGUK AU NM_144648 exon17 c.120276+128A>C 0.116414 0.1438 Uncertain 7_133932525_G->C 7 133932525 133932525 G C snp 177.77 0/1 99 30 23 7 0.23 intronic rs79903579 LRGUK AU NM_144648 exon17 c.120276+129G>C 0.116414 0.1438 Uncertain 7_133932573_G->A 7 133932573 133932573 G A snp 71.77 0/1 99 7 4 3 0.43 intronic rs17167667 LRGUK AU NM_144648 exon17 c.120276+177G>A 0.116414 0.1438 Uncertain 7_133933678_T->G 7 133933678 133933678 T G snp 937.77 0/1 99 60 24 36 0.6 intronic rs430774 LRGUK AU NM_144648 exon18 c.121582-24T>G 0.112021 0.1438 0.064768 0.0594 0.1806 Uncertain 7_133942945_C->T 7 133942945 133942945 C T snp 1135.77 0/1 99 99 53 46 0.46 intronic rs2544180 LRGUK AU NM_144648 exon19 c.130888-63C>T 0.110224 0.1438 Uncertain 7_134132475_G->C 7 134132475 134132475 G C snp 130.03 1/1 12 4 0 4 1.0 intronic rs10808275 AKR1B1 AU NM_001628 exon4 c.5252-256G>C 0.739018 0.9177 Uncertain 7_134133291_G->A 7 134133291 134133291 G A snp 1331.77 1/1 96 57 1 56 0.98 intronic rs2734653 AKR1B1 AU NM_001628 exon5 c.5766+46G>A 0.267572 0.6131 0.169230 0.2586 0.6228 Uncertain 7_134134745_C->T 7 134134745 134134745 C T snp 159.77 0/1 63 7 2 5 0.71 intronic rs2734650 AKR1B1 AU NM_001628 exon7 c.7070+196C>T 0.509585 0.8442 Uncertain 7_134135751_C->T 7 134135751 134135751 C T snp 4824.77 1/1 99 180 0 180 1.0 intronic rs2734649 AKR1B1 AU NM_001628 exon8 c.8175+97C>T 0.722244 0.9236 0.7268 0.9298 Uncertain 7_134136584_A->C 7 134136584 134136584 A C snp 3351.77 1/1 99 111 0 111 1.0 intronic rs1732035 AKR1B1 AU NM_001628 exon9 c.9026+79A>C 1 1 Uncertain 7_134143690_T->C 7 134143690 134143690 T C snp 835.77 0/1 99 53 20 33 0.62 intronic rs1424426 AKR1B1 AU NM_001628 exon10 c.16269-58T>C 0.54972 0.5754 0.521025 Uncertain 7_134217729_A->G 7 134217729 134217729 A G snp 1549.77 0/1 99 132 70 62 0.47 intronic rs3735041 AKR1B10 AU NM_020299 exon4 c.5092-26A>G 0.221645 0.3631 0.187759 0.2482 0.3461 Uncertain 7_134223127_T->C 7 134223127 134223127 T C snp 469.77 0/1 99 29 13 16 0.55 intronic rs4732035 AKR1B10 AU NM_020299 exon8 c.10366+98T>C 0.227037 0.381 Uncertain 7_134225788_C->T 7 134225788 134225788 C T snp 2889.77 1/1 99 98 0 98 1.0 intronic rs4732036 AKR1B10 AU NM_020299 exon10 c.13135-10C>T 0.821885 0.9464 0.744349 0.7564 0.9535 Uncertain 7_134225827_A->G 7 134225827 134225827 A G snp 1366.77 1/1 99 44 0 44 1.0 exonic rs4728329 AKR1B10 AU nonsynonymous SNV NM_020299 exon10 c.A937G p.N313D 0.969449 1 0.936568 0.9381 0.9992 0.46 T 0.0 P -0.903 T 0.0 T 0.0 T Pathogenic 7_134250322_A->C 7 134250322 134250322 A C snp 2108.77 1/1 99 79 0 79 1.0 intronic rs4732038 AKR1B15 AU NM_001080538 exon3 c.150+801A>C 0.503594 0.4742 0.524373 0.5103 0.4659 Uncertain 7_134254427_G->A 7 134254427 134254427 G A snp 748.77 1/1 57 22 0 22 1.0 intronic rs782538 AKR1B15 AU NM_001080538 exon5 c.4910+146G>A 0.650759 0.499 Uncertain 7_134261097_C->G 7 134261097 134261097 C G snp 2015.77 1/1 99 55 0 55 1.0 splicing rs2161803 AKR1B15 AU NM_001080538 exon9 c.11729-3C>G 0.482628 0.4712 0.468322 0.4383 0.4562 Pathogenic 7_134264346_G->A 7 134264346 134264346 G A snp 37.77 0/1 66 7 4 3 0.43 UTR3 rs59127003 AKR1B15 AU 0.0714856 0.1954 0.016687 0.0413 0.1859 Uncertain 7_134552634_G->A 7 134552634 134552634 G A snp 762.77 0/1 99 76 44 32 0.42 intronic rs1452911 CALD1 AU NM_033138 exon3 c.71+79G>A 0.283147 0.6587 Uncertain 7_134576441_T->C 7 134576441 134576441 T C snp 259.8 1/1 21 11 0 11 1.0 intronic rs6953822 CALD1 AU NM_033139 exon1 c.53+17T>C 0.891773 0.9911 0.869279 0.8387 0.9912 Uncertain 7_134612759_-->T 7 134612759 134612759 - T indel 1157.73 1/1 90 30 0 30 1.0 intronic rs11438725 CALD1 AU NM_033138 exon4 c.61020-745insT 0.999201 1 1 1 Uncertain 7_134618710_A->G 7 134618710 134618710 A G snp 2437.77 1/1 99 72 0 72 1.0 exonic rs6973420 CALD1 AU nonsynonymous SNV NM_033138 exon5 c.A1190G p.H397R 0.508387 0.8581 0.450408 0.4739 0.8997 0.0 P -1.012 T 0.0 T 0.0 T Pathogenic 7_134625907_G->T 7 134625907 134625907 G T snp 1005.77 0/1 99 80 36 44 0.55 exonic rs200617975 CALD1 AU nonsynonymous SNV NM_033140 exon4 c.G668T p.R223L 0.000199681 0.001 0.0004 0.0055 0.09 T 0.815 D -0.735 T 0.608 T 0.217 P Pathogenic 7_134673958_T->C 7 134673958 134673958 T C snp 229.84 1/1 18 8 0 8 1.0 intronic rs12671813 AGBL3 AU NM_178563 exon3 c.1316-42T>C 0.372804 0.377 0.415857 0.4254 0.3886 Uncertain 7_134678253_T->A 7 134678253 134678253 T A snp 2964.77 1/1 99 106 0 106 1.0 exonic rs2348049 AGBL3 AU nonsynonymous SNV NM_178563 exon4 c.T134A p.F45Y 0.229233 0.1845 0.2757 0.1961 0.06 T 0.0 P -0.987 T 0.34 T 0.093 T Pathogenic 7_134678523_C->T 7 134678523 134678523 C T snp 759.77 1/1 57 22 0 22 1.0 intronic rs2252826 AGBL3 AU NM_178563 exon4 c.5745+94C>T 0.777556 0.6627 Uncertain 7_134694774_T->- 7 134694774 134694774 T - indel 211.74 0/1 25 23 5 18 0.78 intronic rs34139471 AGBL3 AU NM_178563 exon5 c.29118-7028delT 0.47524 0.754 0.3993 0.4796 Uncertain 7_134694939_T->C 7 134694939 134694939 T C snp 57.74 1/1 6 4 0 4 1.0 intronic rs6958457 AGBL3 AU NM_178563 exon5 c.29118-6863T>C 0.910543 0.9901 0.9813 1 1 T 0.0 P -0.952 T Uncertain 7_134701856_G->C 7 134701856 134701856 G C snp 6614.77 1/1 99 249 0 249 1.0 exonic rs4236655 AGBL3 AU nonsynonymous SNV NM_178563 exon5 c.G364C p.E122Q 0.910543 0.9901 0.931669 0.9676 0.9905 0.53 T 0.019 P -0.917 T 0.232 T 0.113 T Pathogenic 7_134719551_C->G 7 134719551 134719551 C G snp 6421.77 1/1 99 228 0 228 1.0 exonic rs9656447 AGBL3 AU synonymous SNV NM_178563 exon7 c.C1209G p.L403L 0.909744 0.9901 0.931450 0.9694 0.9917 Uncertain 7_134730151_G->C 7 134730151 134730151 G C snp 1188.77 1/1 87 35 0 35 1.0 intronic rs2348054 AGBL3 AU NM_178563 exon10 c.57540-73G>C 0.910543 0.9901 Uncertain 7_134730441_A->G 7 134730441 134730441 A G snp 3355.77 1/1 99 112 1 111 0.99 intronic rs2348055 AGBL3 AU NM_178563 exon11 c.57865-108A>G 0.910543 0.9901 Uncertain 7_134833032_G->A 7 134833032 134833032 G A snp 734.77 0/1 99 65 33 32 0.49 intronic TMEM140 AU Uncertain 7_134849280_T->A 7 134849280 134849280 T A snp 7341.77 1/1 99 250 0 250 1.0 exonic rs292501 TMEM140 AU nonsynonymous SNV NM_018295 exon2 c.T87A p.F29L 0.910942 0.9901 0.925573 0.9749 0.9969 1 T 0.003 P -0.857 T 0.012 T 0.016 T Pathogenic 7_134852432_C->T 7 134852432 134852432 C T snp 995.77 1/1 72 34 0 34 1.0 intronic rs292505 C7orf49 AU NM_001243754 exon2 c.1121-51C>T 0.94369 0.9901 0.956408 Uncertain 7_134878237_G->C 7 134878237 134878237 G C snp 2221.77 1/1 99 66 0 66 1.0 intronic rs2278128 WDR91 AU NM_014149 exon5 c.7249+86G>C 0.228235 0.1776 Uncertain 7_134882680_A->G 7 134882680 134882680 A G snp 3463.77 1/1 99 121 0 121 1.0 intronic rs292582 WDR91 AU NM_014149 exon9 c.11842-64A>G 0.948482 1 Uncertain 7_134882693_T->C 7 134882693 134882693 T C snp 3675.77 1/1 99 135 0 135 1.0 intronic rs292583 WDR91 AU NM_014149 exon9 c.11842-51T>C 0.945687 1 0.960237 Uncertain 7_134891961_G->A 7 134891961 134891961 G A snp 4859.77 1/1 99 181 0 181 1.0 intronic rs2278130 WDR91 AU NM_014149 exon12 c.21052+7G>A 0.229034 0.1776 0.278564 0.2390 0.1883 Uncertain 7_134896383_T->C 7 134896383 134896383 T C snp 584.77 1/1 45 16 0 16 1.0 upstream rs292602 WDR91 AU 0.914337 1 Uncertain 7_134925241_-->A 7 134925241 134925241 - A indel 477.73 0/1 99 66 37 29 0.44 intronic rs34330846 STRA8 AU NM_182489 exon2 c.8540-29insA 0.337061 0.2073 0.4136 0.2829 Uncertain 7_134925411_G->A 7 134925411 134925411 G A snp 3065.77 0/1 99 247 119 128 0.52 exonic rs7805859 STRA8 AU synonymous SNV NM_182489 exon2 c.G201A p.A67A 0.390775 0.2133 0.421882 0.4322 0.2193 Uncertain 7_134930169_-->GAG 7 134930169 134930169 - GAG indel 843.73 0/1 99 76 31 45 0.59 intronic rs113633449 STRA8 AU NM_182489 exon5 c.13351+88insGAG 0.830072 0.6865 0.900032 Uncertain 7_134943159_G->A 7 134943159 134943159 G A snp 808.77 0/1 99 60 25 35 0.58 intronic rs74356588 STRA8 AU NM_182489 exon9 c.26439-10G>A 0.0173722 0.0853 0.000692 0.0181 0.1700 Uncertain 7_134961821_A->G 7 134961821 134961821 A G snp 281.77 0/1 99 19 10 9 0.47 intergenic rs13235457 STRA8 AU 0.26897 0.5228 Uncertain 7_134962043_C->G 7 134962043 134962043 C G snp 4164.77 1/1 99 144 0 144 1.0 intergenic rs10239950 STRA8 AU 0.807308 0.6915 Uncertain 7_134968479_A->C 7 134968479 134968479 A C snp 2687.77 0/1 99 224 116 108 0.48 intergenic rs11762990 STRA8 AU 0.26258 0.1796 Uncertain 7_135047703_T->C 7 135047703 135047703 T C snp 2023.77 1/1 99 67 0 67 1.0 exonic rs6969632 CNOT4 AU synonymous SNV NM_001190850 exon12 c.A2076G p.T692T 0.980431 1 0.988433 0.9959 1 Uncertain 7_135047964_G->A 7 135047964 135047964 G A snp 484.77 0/1 99 50 26 24 0.48 intronic rs3750067 CNOT4 AU NM_013316 exon1 c.302+26G>A 0.0980431 0.1597 0.077737 0.1036 0.1383 Uncertain 7_135048033_G->C 7 135048033 135048033 G C snp 186.77 0/1 99 13 7 6 0.46 intronic rs2059367 CNOT4 AU NM_013316 exon1 c.302+95G>C 0.632987 0.4752 Uncertain 7_135048804_C->T 7 135048804 135048804 C T snp 671.77 0/1 99 68 34 34 0.5 exonic rs3812265 CNOT4 AU nonsynonymous SNV NM_001190850 exon11 c.G1642A p.V548I 0.273962 0.5218 0.235089 0.2653 0.5157 0.2 T 1.0 P -0.935 T 0.0 T 0.001 T Pathogenic 7_135095270_A->G 7 135095270 135095270 A G snp 628.77 1/1 45 25 0 25 1.0 exonic rs2696877 CNOT4 AU synonymous SNV NM_001190850 exon7 c.T816C p.Y272Y 0.9998 1 0.999330 0.9995 1 Uncertain 7_135242910_C->T 7 135242910 135242910 C T snp 253.77 0/1 99 17 8 9 0.53 intronic rs6961420 NUP205 AU NM_015135 exon1 c.28+190C>T 0.502396 0.4514 Uncertain 7_135262533_T->C 7 135262533 135262533 T C snp 1129.77 0/1 99 77 37 40 0.52 intronic rs10252250 NUP205 AU NM_015135 exon6 c.19851-10T>C 0.349441 0.253 0.398493 0.4187 0.2654 Uncertain 7_135272270_T->C 7 135272270 135272270 T C snp 445.77 0/1 99 23 8 15 0.65 intronic rs10271506 NUP205 AU NM_015135 exon9 c.29630-52T>C 0.251797 0.254 Uncertain 7_135272535_-->T 7 135272535 135272535 - T indel 1344.73 0/1 99 111 34 77 0.69 intronic rs35616673 NUP205 AU NM_015135 exon10 c.29910-67insT 0.232228 0.4573 Uncertain 7_135276485_G->A 7 135276485 135276485 G A snp 180.9 1/1 15 5 0 5 1.0 intronic rs4410839 NUP205 AU NM_015135 exon11 c.33656+137G>A 1 1 Uncertain 7_135277626_C->G 7 135277626 135277626 C G snp 46.78 0/1 27 3 1 2 0.67 intronic rs11772654 NUP205 AU NM_015135 exon12 c.35042-108C>G 0.0822684 0.128 Uncertain 7_135277647_T->C 7 135277647 135277647 T C snp 83.77 0/1 30 4 1 3 0.75 intronic rs76481679 NUP205 AU NM_015135 exon12 c.35042-87T>C 0.0820687 0.128 Uncertain 7_135279315_A->C 7 135279315 135279315 A C snp 1723.77 0/1 99 205 126 79 0.39 exonic rs7800214 NUP205 AU synonymous SNV NM_015135 exon13 c.A1851C p.A617A 0.34365 0.2579 0.418345 0.4399 0.2616 Uncertain 7_135304273_G->C 7 135304273 135304273 G C snp 1830.77 1/1 99 64 0 64 1.0 exonic rs7810767 NUP205 AU nonsynonymous SNV NM_015135 exon29 c.G4066C p.E1356Q 0.980032 1 0.983854 0.9954 1 0.53 T 1.0 P -0.962 T 0.0 T 0.001 T Pathogenic 7_135310205_A->G 7 135310205 135310205 A G snp 43.77 0/1 72 4 2 2 0.5 intronic rs6972359 NUP205 AU NM_015135 exon32 c.67411+102A>G 0.334465 0.2569 Uncertain 7_135310211_A->C 7 135310211 135310211 A C snp 41.77 0/1 70 4 2 2 0.5 intronic rs143198114 NUP205 AU NM_015135 exon32 c.67411+108A>C 0.00299521 0.0139 Uncertain 7_135310860_G->A 7 135310860 135310860 G A snp 119.77 0/1 99 7 3 4 0.57 intronic rs10085457 NUP205 AU NM_015135 exon33 c.68295-127G>A 0.279952 0.252 Uncertain 7_135311167_G->A 7 135311167 135311167 G A snp 593.77 0/1 99 43 21 22 0.51 intronic rs10234309 NUP205 AU NM_015135 exon33 c.68417+58G>A 0.738419 0.5119 Uncertain 7_135328110_C->T 7 135328110 135328110 C T snp 1245.77 0/1 99 61 12 49 0.8 splicing rs10260691 NUP205 AU NM_015135 exon39 c.85414+4C>T 0.289137 0.256 0.311779 0.3370 0.2640 Pathogenic 7_135345319_A->G 7 135345319 135345319 A G snp 1222.77 0/1 99 88 37 51 0.58 intergenic rs10258155 NUP205 AU 0.289537 0.254 0.311643 0.3480 0.2742 Uncertain 7_135347239_-->C 7 135347239 135347239 - C indel 298.73 0/1 99 32 18 14 0.44 UTR5 rs141207942 C7orf73 AU Uncertain 7_135357476_A->C 7 135357476 135357476 A C snp 1213.77 0/1 99 61 24 37 0.61 intronic rs3110823 C7orf73 AU NM_001130929 exon2 c.10173-24A>C 0.272165 0.504 0.181340 0.1771 0.5145 Uncertain 7_135375921_C->A 7 135375921 135375921 C A snp 124.77 0/1 99 56 44 12 0.21 intronic rs56341417 SLC13A4 AU NM_012450 exon4 c.9638-27C>A 0.23742 0.3175 0.2197 0.2439 Uncertain 7_135378854_G->A 7 135378854 135378854 G A snp 582.77 0/1 99 49 26 23 0.47 intronic rs3800763 SLC13A4 AU NM_012450 exon7 c.12574-30G>A 0.243211 0.3145 0.257804 0.2835 0.3265 Uncertain 7_135387473_A->G 7 135387473 135387473 A G snp 2040.77 1/1 99 68 0 68 1.0 intronic rs3112345 SLC13A4 AU NM_012450 exon11 c.21282-119A>G 0.715455 0.881 Uncertain 7_135387495_A->G 7 135387495 135387495 A G snp 2286.77 1/1 99 81 0 81 1.0 intronic rs3112346 SLC13A4 AU NM_012450 exon11 c.21282-97A>G 0.746605 0.8899 Uncertain 7_135387656_G->A 7 135387656 135387656 G A snp 2281.77 1/1 99 82 0 82 1.0 intronic rs3112347 SLC13A4 AU NM_012450 exon11 c.21319+27G>A 0.715455 0.881 0.631555 0.6305 0.8846 Uncertain 7_135392876_T->C 7 135392876 135392876 T C snp 4755.77 1/1 99 177 0 177 1.0 exonic rs3110800 SLC13A4 AU synonymous SNV NM_012450 exon3 c.A351G p.G117G 0.682708 0.877 0.593111 0.6191 0.8826 Uncertain 7_135406176_A->G 7 135406176 135406176 A G snp 1386.77 0/1 99 115 50 65 0.57 exonic rs4596594 SLC13A4 AU synonymous SNV NM_012450 exon2 c.T195C p.L65L 0.45028 0.4435 0.478164 0.4422 0.4625 Uncertain 7_135412273_T->C 7 135412273 135412273 T C snp 2248.77 1/1 99 89 0 89 1.0 UTR5 rs3112369 SLC13A4 AU 0.70028 0.6905 0.687142 0.6594 0.6946 Uncertain 7_135413626_C->T 7 135413626 135413626 C T snp 1404.77 0/1 99 107 51 56 0.52 upstream;downstream rs3807338 SLC13A4;FAM180A UN 0.389776 0.378 0.3892 0.415 Uncertain 7_135421790_A->G 7 135421790 135421790 A G snp 807.77 0/1 99 78 44 34 0.44 intronic rs4338044 FAM180A AU NM_205855 exon3 c.3124-56A>G 0.243411 0.3016 Uncertain 7_135614791_G->A 7 135614791 135614791 G A snp 1595.77 0/1 99 111 44 67 0.6 intronic rs72648877 LUZP6 AU NM_001128619 exon1 c.2739+31G>A 0.0535144 0.1736 0.007227 0.0288 0.1805 Uncertain 7_135661631_C->T 7 135661631 135661631 C T snp 133.77 0/1 99 15 9 6 0.4 intronic rs78943195 LUZP6 AU NM_001128619 exon4 c.49755-145C>T 0.0451278 0.128 Uncertain 7_136588109_G->A 7 136588109 136588109 G A snp 418.77 0/1 99 37 18 19 0.51 ncRNA_intronic rs6963819 LOC349160 AU 0.616613 0.4732 0.694481 Uncertain 7_136920870_T->G 7 136920870 136920870 T G snp 793.77 0/1 99 73 39 34 0.47 intronic rs116953599 PTN AU NM_002825 exon1 c.56+8048T>G 0.0255591 0.0466 Uncertain 7_136939582_G->T 7 136939582 136939582 G T snp 3683.77 1/1 99 135 0 135 1.0 intronic rs1162122 PTN AU NM_002825 exon4 c.26839-23G>T 1 1 1 1 Uncertain 7_137080504_T->G 7 137080504 137080504 T G snp 841.77 0/1 99 62 33 29 0.47 intronic DGKI AU NM_004717 exon2 c.4478+61T>G Uncertain 7_137082039_T->C 7 137082039 137082039 T C snp 654.77 1/1 48 25 0 25 1.0 intronic rs2241443 DGKI AU NM_004717 exon3 c.6157-83T>C 0.249201 0.2907 Uncertain 7_137092746_A->- 7 137092746 137092746 A - indel 4014.73 1/1 99 105 0 105 1.0 splicing rs3217275 DGKI AU NM_004717 exon4 c.16776+5delA 0.702157 0.7009 0.7231 Pathogenic 7_137092781_T->C 7 137092781 137092781 T C snp 1731.77 1/1 99 54 0 54 1.0 intronic rs7800454 DGKI AU NM_004717 exon4 c.16776+40T>C 0.727037 0.7222 0.702137 0.7012 0.7234 Uncertain 7_137097086_G->C 7 137097086 137097086 G C snp 804.77 1/1 60 21 0 21 1.0 intronic rs1731959 DGKI AU NM_004717 exon5 c.20988+133G>C 0.988019 1 Uncertain 7_137154572_T->C 7 137154572 137154572 T C snp 524.77 1/1 42 16 0 16 1.0 intronic rs2293546 DGKI AU NM_004717 exon10 c.78400+207T>C 0.926318 0.8909 Uncertain 7_137531148_T->- 7 137531148 137531148 T - indel 9613.73 1/1 99 213 0 213 1.0 intronic rs71815938 DGKI AU NM_004717 exon34 c.455242-59delT 1 1 Uncertain 7_137590369_G->A 7 137590369 137590369 G A snp 713.77 0/1 99 63 36 27 0.43 intronic rs273968 CREB3L2 AU NM_194071 exon7 c.25226-78G>A 0.765375 0.8601 Uncertain 7_137600690_C->T 7 137600690 137600690 C T snp 2158.77 1/1 99 71 0 71 1.0 exonic rs273957 CREB3L2 AU nonsynonymous SNV NM_001253775 exon3 c.G388A p.V130I 0.804313 0.9435 0.715055 0.6893 0.9243 0.3 T 0.0 P -0.976 T 0.0 T 0.0 T Pathogenic 7_137607217_C->T 7 137607217 137607217 C T snp 393.77 1/1 30 14 0 14 1.0 intronic rs28555390 CREB3L2 AU NM_001253775 exon3 c.15323-5678C>T 0.607228 0.8185 Uncertain 7_137607233_C->T 7 137607233 137607233 C T snp 754.77 1/1 57 27 0 27 1.0 intronic rs28505336 CREB3L2 AU NM_001253775 exon3 c.15323-5662C>T 0.59984 0.8214 Uncertain 7_137612914_TGG->- 7 137612914 137612916 TGG - indel 1051.73 1/1 57 19 0 19 1.0 exonic rs3217268 CREB3L2 AU nonframeshift deletion NM_001253775 exon2 c.299_301del p.100_101del 0.690695 0.8244 0.639821 0.6918 0.8392 ID=COSM1579673;OCCURENCE=1(central_nervous_system) Uncertain 7_137641123_C->T 7 137641123 137641123 C T snp 93.28 1/1 9 3 0 3 1.0 intronic rs274003 CREB3L2 AU NM_001253775 exon3 c.15540+28011C>T 0.417332 0.7817 Uncertain 7_137642759_T->A 7 137642759 137642759 T A snp 429.77 1/1 33 11 0 11 1.0 intronic rs274004 CREB3L2 AU NM_001253775 exon3 c.15540+29647T>A 0.434505 0.7817 Uncertain 7_137686298_ACA->- 7 137686298 137686300 ACA - indel 2043.73 0/1 99 98 58 40 0.41 intronic rs72580571 CREB3L2 AU NM_001253775 exon4 c.88777-51_88777-49delACA 0.0776757 0.0308 Uncertain 7_137761449_T->C 7 137761449 137761449 T C snp 267.77 0/1 99 28 15 13 0.46 intronic AKR1D1 AR NM_001190907 exon1 c.93+92T>C Uncertain 7_137773291_T->G 7 137773291 137773291 T G snp 1841.77 0/1 99 137 57 80 0.58 intronic rs2120846 AKR1D1 AR NM_001190907 exon2 c.12082-55T>G 0.755791 0.6548 Uncertain 7_137773563_T->G 7 137773563 137773563 T G snp 246.77 0/1 99 22 13 9 0.41 intronic rs2166188 AKR1D1 AR NM_001190907 exon2 c.12250+49T>G 0.755591 0.6548 0.785714 0.7542 0.6627 Uncertain 7_137776411_-->A 7 137776411 137776411 - A indel 500.9 1/1 14 29 3 26 0.9 intronic rs202194493 AKR1D1 AR NM_001190907 exon3 c.15249-102insA Uncertain 7_137789937_G->T 7 137789937 137789937 G T snp 558.77 0/1 99 45 23 22 0.49 intronic rs2306845 AKR1D1 AR NM_001190907 exon5 c.28788-115G>T 0.0792732 0.2093 Uncertain 7_137798247_C->G 7 137798247 137798247 C G snp 113.77 0/1 99 8 4 4 0.5 intronic rs6467736 AKR1D1 AR NM_005989 exon8 c.37171-188C>G 0.523562 0.5724 Uncertain 7_137798593_A->T 7 137798593 137798593 A T snp 4730.77 1/1 99 171 0 171 1.0 intronic rs2306847 AKR1D1 AR NM_005989 exon8 c.37254+75A>T 0.778954 0.7381 Uncertain 7_137801413_A->C 7 137801413 137801413 A C snp 3568.77 1/1 99 127 0 127 1.0 UTR3 rs1872929 AKR1D1 AR 0.822390 0.7810 0.7428 Uncertain 7_137801444_C->T 7 137801444 137801444 C T snp 3369.77 1/1 99 118 0 118 1.0 UTR3 rs1872930 AKR1D1 AR 0.777955 0.7351 0.817392 0.7781 0.7415 Uncertain 7_138189190_CTC->- 7 138189190 138189192 CTC - indel 1970.73 1/1 99 43 0 43 1.0 intronic rs148040062 TRIM24 AU NM_015905 exon2 c.43860+37_43860+39delCTC 0.0321486 0.0317 0.2145 0.3810 Uncertain 7_138200117_A->T 7 138200117 138200117 A T snp 2022.77 1/1 99 65 0 65 1.0 intronic rs3757381 TRIM24 AU NM_015905 exon3 c.54811+13A>T 0.71905 0.5159 0.824619 0.7660 0.5010 Uncertain 7_138229990_G->A 7 138229990 138229990 G A snp 655.77 1/1 48 20 0 20 1.0 intronic rs6959574 TRIM24 AU NM_015905 exon8 c.90514-5817G>A 0.722244 0.5159 Uncertain 7_138235643_G->C 7 138235643 138235643 G C snp 86.28 1/1 9 3 0 3 1.0 intronic rs1363053 TRIM24 AU NM_015905 exon8 c.90514-164G>C 0.773163 0.5526 Uncertain 7_138258160_ATT->- 7 138258160 138258162 ATT - indel 232.87 1/1 15 5 0 5 1.0 intronic rs71863733 TRIM24 AU NM_015905 exon12 c.112958-91_112958-89delATT 0.367812 0.5188 Uncertain 7_138305743_A->T 7 138305743 138305743 A T snp 1932.77 1/1 99 73 0 73 1.0 intronic rs3734946 SVOPL AU NM_001139456 exon3 c.26436-47A>T 0.305711 0.3948 0.306675 0.3436 0.3746 Uncertain 7_138305782_T->C 7 138305782 138305782 T C snp 2083.77 1/1 99 81 0 81 1.0 intronic rs3734945 SVOPL AU NM_001139456 exon3 c.26436-8T>C 0.332268 0.3948 0.337460 0.3622 0.3887 Uncertain 7_138305806_T->C 7 138305806 138305806 T C snp 2466.77 1/1 99 92 0 92 1.0 exonic rs3734944 SVOPL AU synonymous SNV NM_174959 exon10 c.A882G p.A294A 0.263379 0.3919 0.252422 0.2996 0.3845 Uncertain 7_138310629_G->A 7 138310629 138310629 G A snp 6721.77 1/1 99 250 1 249 1.0 intronic rs1673162 SVOPL AU NM_001139456 exon4 c.31359-84G>A 0.792732 0.999 Uncertain 7_138312122_A->C 7 138312122 138312122 A C snp 1362.77 0/1 99 128 76 52 0.41 exonic rs2305816 SVOPL AU nonsynonymous SNV NM_174959 exon8 c.T698G p.F233C 0.476438 0.3452 0.625865 0.6225 0.3091 0.25 T 1.000 P -0.878 T 1.0 D 0.983 D Pathogenic 7_138329354_A->G 7 138329354 138329354 A G snp 99.28 1/1 9 3 0 3 1.0 intronic rs1673174 SVOPL AU NM_001139456 exon8 c.50107-107A>G 0.865016 0.8333 Uncertain 7_138329658_G->A 7 138329658 138329658 G A snp 1085.77 0/1 99 107 56 51 0.48 intronic rs28367131 SVOPL AU NM_001139456 exon8 c.50236+68G>A 0.196885 0.1944 Uncertain 7_138329790_T->C 7 138329790 138329790 T C snp 99.28 1/1 9 3 0 3 1.0 intronic rs28620109 SVOPL AU NM_001139456 exon8 c.50236+200T>C 0.264377 0.3601 Uncertain 7_138333955_A->G 7 138333955 138333955 A G snp 821.77 1/1 60 27 0 27 1.0 intronic rs77964394 SVOPL AU NM_001139456 exon9 c.54528+73A>G 0.0607029 0.1627 Uncertain 7_138344780_G->A 7 138344780 138344780 G A snp 2899.77 1/1 99 112 0 112 1.0 intronic rs78350754 SVOPL AU NM_001139456 exon11 c.65379+47G>A 0.0648962 0.2192 0.0296 0.2403 Uncertain 7_138347869_C->T 7 138347869 138347869 C T snp 2569.77 1/1 99 96 0 96 1.0 exonic rs77230230 SVOPL AU nonsynonymous SNV NM_001139456 exon4 c.G295A p.V99I 0.0648962 0.2192 0.008227 0.0339 0.2365 0.99 T 1.0 P -1.061 T 0.497 P 0.174 P Pathogenic 7_138356660_G->T 7 138356660 138356660 G T snp 99.28 1/1 9 3 0 3 1.0 intronic rs75315152 SVOPL AU NM_001139456 exon13 c.77409-103G>T 1 1 Uncertain 7_138356661_T->A 7 138356661 138356661 T A snp 93.28 1/1 9 3 0 3 1.0 intronic rs78515228 SVOPL AU NM_001139456 exon13 c.77409-102T>A 1 1 Uncertain 7_138356662_G->C 7 138356662 138356662 G C snp 96.28 1/1 9 3 0 3 1.0 intronic rs5011821 SVOPL AU NM_001139456 exon13 c.77409-101G>C 1 1 Uncertain 7_138356663_G->C 7 138356663 138356663 G C snp 99.28 1/1 9 3 0 3 1.0 intronic rs5011820 SVOPL AU NM_001139456 exon13 c.77409-100G>C 1 1 Uncertain 7_138356664_C->A 7 138356664 138356664 C A snp 99.28 1/1 9 3 0 3 1.0 intronic rs77651439 SVOPL AU NM_001139456 exon13 c.77409-99C>A 1 1 Uncertain 7_138356732_C->G 7 138356732 138356732 C G snp 745.78 1/1 24 25 1 24 0.96 intronic rs62485328 SVOPL AU NM_001139456 exon13 c.77409-31C>G 0.503794 0.4931 Uncertain 7_138356733_T->C 7 138356733 138356733 T C snp 741.78 1/1 24 25 1 24 0.96 intronic rs62485329 SVOPL AU NM_001139456 exon13 c.77409-30T>C 0.498003 0.4861 Uncertain 7_138356734_G->T 7 138356734 138356734 G T snp 775.77 1/1 57 24 0 24 1.0 intronic rs63317961 SVOPL AU NM_001139456 exon13 c.77409-29G>T 0.498003 0.4861 0.998467 Uncertain 7_138363767_A->G 7 138363767 138363767 A G snp 1138.77 0/1 99 94 41 53 0.56 exonic rs10250576 SVOPL AU synonymous SNV NM_001139456 exon1 c.T24C p.P8P 0.604433 0.627 0.535918 0.4876 0.6190 Uncertain 7_138413753_G->A 7 138413753 138413753 G A snp 205.84 1/1 18 6 0 6 1.0 intronic rs3734941 ATP6V0A4 AU NM_130841 exon5 c.22239+146G>A 0.767772 0.7569 Uncertain 7_138417596_-->A 7 138417596 138417596 - A indel 82.87 1/1 15 5 0 5 1.0 intronic rs148944306 ATP6V0A4 AU NM_130841 exon6 c.26253-25insA 0.405351 0.5635 0.4106 0.5558 Uncertain 7_138417718_A->G 7 138417718 138417718 A G snp 3804.77 1/1 99 135 0 135 1.0 exonic rs3807154 ATP6V0A4 AU synonymous SNV NM_020632 exon17 c.T1812C p.H604H 0.677516 0.8472 0.633092 0.7197 0.8190 Uncertain 7_138418910_G->A 7 138418910 138418910 G A snp 6865.77 1/1 99 250 0 250 1.0 exonic rs1026435 ATP6V0A4 AU synonymous SNV NM_020632 exon16 c.C1662T p.F554F 0.716653 0.8403 0.683223 0.7267 0.8087 Uncertain 7_138419085_A->G 7 138419085 138419085 A G snp 1552.77 1/1 99 44 0 44 1.0 intronic rs1037692 ATP6V0A4 AU NM_130841 exon7 c.27631+86A>G 0.790335 0.9454 Uncertain 7_138429823_C->T 7 138429823 138429823 C T snp 259.77 0/1 99 18 8 10 0.56 intronic rs55843107 ATP6V0A4 AU NM_130841 exon9 c.38499-44C>T 0.387181 0.5942 0.310165 0.4219 0.6403 Uncertain 7_138429851_T->C 7 138429851 138429851 T C snp 526.77 0/1 99 36 15 21 0.58 intronic rs6467797 ATP6V0A4 AU NM_130841 exon9 c.38499-16T>C 0.271965 0.3175 0.273797 0.1948 0.2823 Uncertain 7_138432354_C->T 7 138432354 138432354 C T snp 246.77 0/1 99 26 17 9 0.35 intronic rs150791653 ATP6V0A4 AU NM_130841 exon10 c.40941+45C>T 0.0113818 0.0536 0.000384 0.0056 0.0583 Uncertain 7_138440607_G->A 7 138440607 138440607 G A snp 2186.77 0/1 99 246 147 99 0.4 intronic rs296911 ATP6V0A4 AU NM_130841 exon13 c.49159+80G>A 0.190495 0.1865 Uncertain 7_138441124_A->G 7 138441124 138441124 A G snp 4893.77 1/1 99 183 0 183 1.0 intronic rs296910 ATP6V0A4 AU NM_130841 exon14 c.49834-78A>G 0.640375 0.5625 Uncertain 7_138453388_G->A 7 138453388 138453388 G A snp 56.74 1/1 6 2 0 2 1.0 intronic rs7780807 ATP6V0A4 AU NM_130841 exon18 c.62156-136G>A 0.977236 0.9891 Uncertain 7_138453893_AA->- 7 138453893 138453894 AA - indel 245.73 0/1 99 51 34 17 0.33 intronic rs551182695 ATP6V0A4 AU NM_130841 exon19 c.62549-24_62549-23delAA 0.330871 0.1687 0.3115 0.1660 Uncertain 7_138455988_A->G 7 138455988 138455988 A G snp 848.77 0/1 99 71 36 35 0.49 exonic rs10258719 ATP6V0A4 AU nonsynonymous SNV NM_020632 exon3 c.T5C p.V2A 0.679513 0.5327 0.732201 0.7040 0.4883 0.14 T 0.000 P -0.931 T 0.0 T 0.0 T ID=CM143112;DIS=Distal renal tubular acidosis, with sensorineural hearing loss;TAG=R;PUB=24564331 R Pathogenic 7_138485954_G->T 7 138485954 138485954 G T snp 1951.77 1/1 99 64 0 64 1.0 intronic rs6945259 TMEM213 AU NM_001085429 exon2 c.3222-117G>T 0.625 0.6875 Uncertain 7_138486096_G->C 7 138486096 138486096 G C snp 6037.77 1/1 99 240 0 240 1.0 exonic rs61729750 TMEM213 AU nonsynonymous SNV NM_001085429 exon2 c.G107C p.S36T 0.671126 0.6925 0.659050 0.6506 0.7219 1 T 0.0 P -0.954 T 0.0 T 0.0 T Pathogenic 7_138522534_T->C 7 138522534 138522534 T C snp 150.78 0/1 24 7 1 6 0.86 UTR3 rs35322348 KIAA1549 AU 0.144169 0.3115 Uncertain 7_138564096_G->T 7 138564096 138564096 G T snp 153.77 0/1 99 9 4 5 0.56 intronic rs6958680 KIAA1549 AU NM_020910 exon9 c.41633-187G>T 0.113419 0.2232 Uncertain 7_138583840_C->A 7 138583840 138583840 C A snp 4439.77 1/1 99 167 0 167 1.0 exonic rs7802841 KIAA1549 AU synonymous SNV NM_001164665 exon9 c.G3708T p.P1236P 0.755391 0.8998 0.713892 0.7176 0.8916 Uncertain 7_138707143_-->A 7 138707143 138707143 - A indel 870.73 1/1 60 20 0 20 1.0 intergenic rs146382220 KIAA1549 AU 0.0231629 0.0982 0.0043 0.1923 Uncertain 7_138713514_C->T 7 138713514 138713514 C T snp 1442.77 0/1 99 135 74 61 0.45 exonic rs775564261 ZC3HAV1L AU nonsynonymous SNV NM_080660 exon3 c.G694A p.V232I 4.943e-05 0.0005 0.25 T 1 N -1.040 T 0.017 T 0.011 T Pathogenic 7_138739816_C->G 7 138739816 138739816 C G snp 413.77 1/1 33 12 0 12 1.0 intronic rs10261597 ZC3HAV1 AU NM_020119 exon4 c.7611-134C>G 0.653155 0.6925 Uncertain 7_138740037_G->C 7 138740037 138740037 G C snp 3691.77 1/1 99 142 0 142 1.0 exonic rs2297236 ZC3HAV1 AU nonsynonymous SNV NM_020119 exon10 c.C2101G p.Q701E 0.565096 0.6776 0.530371 0.5597 0.6930 0.63 T 0.000 P -1.009 T 0.056 T 0.024 T Pathogenic 7_138740186_A->G 7 138740186 138740186 A G snp 1199.77 1/1 87 42 0 42 1.0 intronic rs2297237 ZC3HAV1 AU NM_020119 exon4 c.7702+145A>G 0.654952 0.7024 Uncertain 7_138740195_T->G 7 138740195 138740195 T G snp 916.77 1/1 66 31 0 31 1.0 intronic rs2297238 ZC3HAV1 AU NM_020119 exon4 c.7702+154T>G 0.654752 0.7024 Uncertain 7_138740224_T->C 7 138740224 138740224 T C snp 516.77 1/1 39 14 0 14 1.0 intronic rs2297239 ZC3HAV1 AU NM_020119 exon4 c.7702+183T>C 0.655551 0.7024 Uncertain 7_138740240_T->C 7 138740240 138740240 T C snp 423.77 1/1 33 11 0 11 1.0 intronic rs2297240 ZC3HAV1 AU NM_020119 exon4 c.7702+199T>C 0.655551 0.7024 Uncertain 7_138758583_A->G 7 138758583 138758583 A G snp 3576.77 1/1 99 132 0 132 1.0 intronic rs66770423 ZC3HAV1 AU NM_020119 exon7 c.26262-18A>G 0.240615 0.3919 0.157312 0.1977 0.4271 Uncertain 7_138761034_G->C 7 138761034 138761034 G C snp 5392.77 1/1 99 203 2 201 0.99 exonic rs2297241 ZC3HAV1 AU nonsynonymous SNV NM_020119 exon6 c.C1695G p.H565Q 0.241014 0.3929 0.163386 0.1973 0.4416 0.54 T 0.0 P -0.948 T 0.001 T 0.002 T Pathogenic 7_138764060_G->A 7 138764060 138764060 G A snp 4591.77 1/1 99 153 0 153 1.0 intronic rs2236424 ZC3HAV1 AU NM_020119 exon10 c.31876-155G>A 0.328075 0.3988 0.2829 0.5036 0.18 T 0.000 P -0.981 T Uncertain 7_138764145_T->C 7 138764145 138764145 T C snp 5239.77 1/1 99 185 1 184 0.99 intronic rs2236425 ZC3HAV1 AU NM_020119 exon10 c.31876-70T>C 0.342652 0.3998 0.2822 0.4668 Uncertain 7_138764233_C->T 7 138764233 138764233 C T snp 6447.77 1/1 99 238 0 238 1.0 exonic rs2236426 ZC3HAV1 AU nonsynonymous SNV NM_020119 exon4 c.G1454A p.R485K 0.232228 0.378 0.156389 0.1936 0.4227 0.79 T 0.0 P -0.926 T 0.012 T 0.029 T Pathogenic 7_139026152_T->G 7 139026152 139026152 T G snp 2366.77 0/1 99 197 92 105 0.53 exonic rs10265 C7orf55 AU nonsynonymous SNV NM_001244584 exon1 c.T22G p.S8A 0.417133 0.2024 0.427187 0.2805 0.2194 0.63 T 0.0 P -0.999 T 0.0 T 0.0 T Pathogenic 7_139077240_C->A 7 139077240 139077240 C A snp 503.77 0/1 99 48 28 20 0.42 intronic rs4732370 C7orf55-LUC7L2 AU NM_001244584 exon4 c.57214-6104C>A 0.414137 0.2014 0.2989 0.1825 Uncertain 7_139083283_T->G 7 139083283 139083283 T G snp 39.77 0/1 68 12 8 4 0.33 intronic rs189985411 C7orf55-LUC7L2 AU NM_001244584 exon4 c.57214-61T>G 0.00279553 0.0139 Uncertain 7_139097282_-->C 7 139097282 139097282 - C indel 830.73 0/1 99 52 28 24 0.46 intronic rs11409457 C7orf55-LUC7L2 AU NM_001244584 exon9 c.71166-14insC 0.400940 0.2715 0.2347 Uncertain 7_139102490_A->G 7 139102490 139102490 A G snp 504.77 0/1 99 59 35 24 0.41 ncRNA_intronic rs3778931 LOC100129148 AU 0.413738 0.2014 0.405573 0.2789 0.2229 Uncertain 7_139107193_C->T 7 139107193 139107193 C T snp 386.77 0/1 99 22 8 14 0.64 ncRNA_intronic rs6951868 LOC100129148 AU 0.123403 0.0149 Uncertain 7_139138551_C->T 7 139138551 139138551 C T snp 509.77 0/1 99 31 14 17 0.55 intronic rs10954649 KLRG2 AU NM_198508 exon1 c.121+98C>T 0.453874 0.3254 Uncertain 7_139138871_T->G 7 139138871 139138871 T G snp 327.77 0/1 99 39 23 16 0.41 exonic rs11763327 KLRG2 AU synonymous SNV NM_198508 exon4 c.A1095C p.P365P 0.444888 0.3313 0.379252 0.3911 0.3115 Uncertain 7_139167934_T->G 7 139167934 139167934 T G snp 585.77 0/1 99 86 59 27 0.31 exonic rs1860150 KLRG2 AU nonsynonymous SNV NM_198508 exon1 c.A455C p.K152T 0.626597 0.6746 0.651306 0.6175 0.7438 1 T 0.000 P -0.963 T 0.0 T 0.0 T Pathogenic 7_139298097_G->- 7 139298097 139298097 G - indel 627.73 0/1 99 38 15 23 0.61 intronic rs3841339 HIPK2 AU NM_022740 exon7 c.40397+28delG 0.00858626 0.0397 0.000419 0.0040 0.0501 Uncertain 7_139415775_G->C 7 139415775 139415775 G C snp 1313.77 0/1 99 131 73 58 0.44 exonic rs7456421 HIPK2 AU synonymous SNV NM_001113239 exon2 c.C1059G p.V353V 0.396565 0.2669 0.351165 0.2690 0.2830 Uncertain 7_139417093_C->T 7 139417093 139417093 C T snp 50.74 1/1 6 2 0 2 1.0 intronic rs7458885 HIPK2 AU NM_022740 exon14 c.159142+279C>T 0.163139 0.1577 Uncertain 7_139478085_C->T 7 139478085 139478085 C T snp 571.77 0/1 99 48 22 26 0.54 upstream rs2254854 HIPK2 AU 0.114217 0.1567 Uncertain 7_139478175_T->G 7 139478175 139478175 T G snp 969.77 0/1 99 71 31 40 0.56 upstream rs1860509 HIPK2 AU 0.394569 0.251 Uncertain 7_139653196_A->C 7 139653196 139653196 A C snp 4651.77 1/1 99 168 0 168 1.0 exonic rs5768 TBXAS1 AR,AD nonsynonymous SNV NM_001061 exon6 c.A483C p.E161D 0.996805 0.999 0.993234 0.9934 1 1 T 1.000 P -0.935 T 0.001 T 0.003 T Pathogenic 7_139724169_A->G 7 139724169 139724169 A G snp 501.77 1/1 39 15 0 15 1.0 UTR3 rs13760 PARP12 AU 0.55631 0.5288 Uncertain 7_139724358_G->A 7 139724358 139724358 G A snp 3373.77 1/1 99 117 0 117 1.0 UTR3 rs2269996 PARP12 AU 0.314696 0.5258 0.240274 0.2598 0.5892 0 D 0.000 P -0.972 T Uncertain 7_139724555_C->T 7 139724555 139724555 C T snp 5385.77 1/1 99 191 0 191 1.0 exonic rs3735352 PARP12 AU synonymous SNV NM_022750 exon12 c.G1911A p.P637P 0.375599 0.498 0.364447 0.2835 0.5665 Uncertain 7_139726207_G->A 7 139726207 139726207 G A snp 1654.77 1/1 99 64 0 64 1.0 intronic rs2286198 PARP12 AU NM_022750 exon2 c.1789+59G>A 0.347843 0.5 Uncertain 7_139727135_G->A 7 139727135 139727135 G A snp 3156.77 1/1 99 124 0 124 1.0 exonic rs2286196 PARP12 AU synonymous SNV NM_022750 exon10 c.C1569T p.F523F 0.302117 0.5258 0.227741 0.2523 0.5883 Uncertain 7_139728584_A->C 7 139728584 139728584 A C snp 1548.77 1/1 99 53 0 53 1.0 intronic rs2286195 PARP12 AU NM_022750 exon4 c.4129+96A>C 0.357029 0.5308 Uncertain 7_139746633_-->GTGTGTGTGTCA 7 139746633 139746633 - GTGTGTGTGTCA indel 5939.73 ./1 99 71 0 71 1.0 intronic PARP12 AU NM_022750 exon8 c.22324-50insGTGTGTGTGTCA Uncertain 7_139746633_-->GTGTGTGTCA 7 139746633 139746633 - GTGTGTGTCA indel 5939.73 ./1 99 71 0 71 1.0 intronic rs3216987 PARP12 AU NM_022750 exon8 c.22324-50insGTGTGTGTCA Uncertain 7_139754451_T->C 7 139754451 139754451 T C snp 6608.77 1/1 99 230 0 230 1.0 intronic rs2362460 PARP12 AU NM_022750 exon9 c.30102-10T>C 0.554912 0.5278 0.541981 0.4638 0.5898 Uncertain 7_139813250_GTGGCATAAAACACA->- 7 139813250 139813264 GTGGCATAAAACACA - indel 7179.73 0/1 99 125 78 47 0.38 intronic rs11271275 KDM7A AU NM_030647 exon11 c.22397-40_22397-26delGTGGCATAAAACACA 0.265974 0.3095 0.172294 0.2002 0.3348 Uncertain 7_139833434_G->A 7 139833434 139833434 G A snp 923.77 0/1 99 90 46 44 0.49 exonic rs76676651 KDM7A AU synonymous SNV NM_030647 exon3 c.C303T p.H101H 0.0119808 0.0446 0.001013 0.0098 0.0556 ID=COSM150401;OCCURENCE=1(stomach) Uncertain 7_140036917_A->G 7 140036917 140036917 A G snp 57.74 1/1 6 3 0 3 1.0 intronic rs111730689 SLC37A3 AU NM_207113 exon2 c.1872-166A>G Uncertain 7_140037054_T->- 7 140037054 140037054 T - indel 437.73 1/1 51 19 0 19 1.0 intronic rs11331602 SLC37A3 AU NM_207113 exon2 c.1872-29delT 0.301822 0.4946 0.6967 Uncertain 7_140051790_T->C 7 140051790 140051790 T C snp 1517.77 1/1 72 59 1 58 0.98 intronic rs73472791 SLC37A3 AU NM_207113 exon8 c.16650-71T>C 0.167732 0.121 0.2248 0.2602 Uncertain 7_140058337_G->A 7 140058337 140058337 G A snp 373.77 0/1 99 23 10 13 0.57 intronic rs182298084 SLC37A3 AU NM_207113 exon10 c.23228-102G>A 0.000798722 0.004 Uncertain 7_140064052_G->- 7 140064052 140064052 G - indel 279.74 1/1 27 9 0 9 1.0 intronic rs11266814 SLC37A3 AU NM_207113 exon11 c.28996-155delG 0.520966 0.5397 Uncertain 7_140069361_G->C 7 140069361 140069361 G C snp 3162.77 1/1 99 122 1 121 0.99 intronic rs4448174 SLC37A3 AU NM_207113 exon12 c.34178-28G>C 0.54992 0.5417 0.557204 0.5668 0.5708 Uncertain 7_140082363_G->A 7 140082363 140082363 G A snp 3825.77 1/1 99 134 0 134 1.0 UTR5 rs6968618 SLC37A3 AU 0.764577 0.8056 0.716823 0.7442 0.8066 Uncertain 7_140110677_G->A 7 140110677 140110677 G A snp 1155.77 0/1 99 110 66 44 0.4 intronic rs2971690 RAB19 AU NM_001008749 exon3 c.4227-996G>A 0.327875 0.1944 Uncertain 7_140110972_A->G 7 140110972 140110972 A G snp 63.77 0/1 92 8 5 3 0.38 intronic rs2948387 RAB19 AU NM_001008749 exon3 c.4227-701A>G 0.328075 0.1944 Uncertain 7_140111486_A->T 7 140111486 140111486 A T snp 31.77 0/1 33 3 1 2 0.67 intronic rs2948389 RAB19 AU NM_001008749 exon3 c.4227-187A>T 0.327875 0.1944 Uncertain 7_140111509_G->C 7 140111509 140111509 G C snp 46.77 0/1 33 4 1 3 0.75 intronic rs2971688 RAB19 AU NM_001008749 exon3 c.4227-164G>C 0.327875 0.1944 Uncertain 7_140112026_C->T 7 140112026 140112026 C T snp 83.77 0/1 28 4 1 3 0.75 intronic rs56099604 RAB19 AU NM_001008749 exon3 c.4411+169C>T 0.066893 0.0724 Uncertain 7_140155800_C->T 7 140155800 140155800 C T snp 970.77 0/1 99 77 33 44 0.57 intronic rs17621014 MKRN1 AU NM_013446 exon3 c.1384+100C>T 0.0660942 0.0823 Uncertain 7_140218464_C->A 7 140218464 140218464 C A snp 2896.77 1/1 99 104 0 104 1.0 UTR3 rs6852 DENND2A AU 0.486422 0.7728 0.432118 0.5148 0.7814 Uncertain 7_140218631_G->A 7 140218631 140218631 G A snp 1231.77 0/1 99 88 37 51 0.58 intronic rs117680338 DENND2A AU NM_015689 exon1 c.32+93G>A 0.00439297 0.0218 Uncertain 7_140246894_A->G 7 140246894 140246894 A G snp 165.9 1/1 15 5 0 5 1.0 intronic rs1879901 DENND2A AU NM_015689 exon8 c.28233+155A>G 0.743411 0.8631 Uncertain 7_140255623_T->C 7 140255623 140255623 T C snp 2565.77 1/1 99 96 0 96 1.0 intronic rs4342501 DENND2A AU NM_015689 exon9 c.37007+110T>C 0.508586 0.8373 Uncertain 7_140257841_A->G 7 140257841 140257841 A G snp 810.77 1/1 60 22 0 22 1.0 intronic rs10252031 DENND2A AU NM_015689 exon10 c.39436-101A>G 0.930511 0.9921 Uncertain 7_140257907_C->T 7 140257907 140257907 C T snp 2620.77 1/1 99 88 1 87 0.99 intronic rs12704002 DENND2A AU NM_015689 exon10 c.39436-35C>T 0.550319 0.8442 0.502368 0.5794 0.8484 Uncertain 7_140258000_T->C 7 140258000 140258000 T C snp 6081.77 1/1 99 215 0 215 1.0 exonic rs12704003 DENND2A AU synonymous SNV NM_015689 exon9 c.A1902G p.S634S 0.560104 0.8442 0.520918 0.5799 0.8494 Uncertain 7_140301731_G->T 7 140301731 140301731 G T snp 7824.77 1/1 99 250 0 250 1.0 exonic rs269243 DENND2A AU nonsynonymous SNV NM_015689 exon1 c.C467A p.P156H 0.97524 1 0.953470 0.9549 1 0.25 T 0.0 P -1.022 T 0.0 T 0.0 T Pathogenic 7_140396472_-->G 7 140396472 140396472 - G indel 435.73 1/1 36 12 0 12 1.0 ncRNA_exonic rs397689769 NDUFB2-AS1 AU Uncertain 7_140774467_C->G 7 140774467 140774467 C G snp 1982.77 1/1 99 75 0 75 1.0 exonic rs477223 TMEM178B AU synonymous SNV NM_001195278 exon1 c.C357G p.P119P 0.657548 0.7778 0.6818 0.7857 Uncertain 7_141137460_C->T 7 141137460 141137460 C T snp 570.77 0/1 99 56 32 24 0.43 exonic rs13233459 TMEM178B AU synonymous SNV NM_001195278 exon3 c.C549T p.L183L 0.191294 0.0972 0.2443 0.1373 Uncertain 7_141137554_A->G 7 141137554 141137554 A G snp 1486.77 1/1 99 58 0 58 1.0 intronic rs1727491 TMEM178B AU NM_001195278 exon3 c.363435+9A>G 0.822684 0.7153 0.8152 0.7282 Uncertain 7_141137556_G->A 7 141137556 141137556 G A snp 654.77 0/1 99 58 27 31 0.53 intronic rs1619668 TMEM178B AU NM_001195278 exon3 c.363435+11G>A 0.371605 0.119 0.4466 0.1584 Uncertain 7_141177192_A->C 7 141177192 141177192 A C snp 216.84 1/1 18 6 0 6 1.0 UTR3 rs10239319 TMEM178B AU 0.989816 1 Uncertain 7_141362431_T->C 7 141362431 141362431 T C snp 577.77 1/1 45 17 0 17 1.0 UTR3 rs6949729 KIAA1147 AU 0.993011 1 0.991821 0.9912 1 Uncertain 7_141362693_A->T 7 141362693 141362693 A T snp 1390.77 0/1 99 106 52 54 0.51 intronic rs2269984 KIAA1147 AU NM_001080392 exon1 c.196+42A>T 0.321286 0.501 0.2809 0.4941 Uncertain 7_141363842_C->T 7 141363842 141363842 C T snp 1436.77 1/1 99 43 0 43 1.0 intronic rs12534759 KIAA1147 AU NM_001080392 exon2 c.1516-129C>T 0.163139 0.3304 Uncertain 7_141364216_T->C 7 141364216 141364216 T C snp 86.28 1/1 9 3 0 3 1.0 intronic rs12538056 KIAA1147 AU NM_001080392 exon2 c.1585+176T>C 0.197484 0.3681 Uncertain 7_141364712_G->A 7 141364712 141364712 G A snp 4203.77 1/1 99 145 0 145 1.0 exonic rs2286150 KIAA1147 AU synonymous SNV NM_001080392 exon7 c.C1095T p.N365N 0.209265 0.373 0.108082 0.1835 0.3899 Uncertain 7_141365128_T->C 7 141365128 141365128 T C snp 5057.77 1/1 99 193 0 193 1.0 intronic rs2286151 KIAA1147 AU NM_001080392 exon4 c.2663+10T>C 0.217851 0.369 0.116911 0.1814 0.3565 Uncertain 7_141373921_C->T 7 141373921 141373921 C T snp 2463.77 0/1 99 233 115 118 0.51 exonic rs192507189 KIAA1147 AU synonymous SNV NM_001080392 exon4 c.G627A p.L209L 0.00199681 0.006 0.0015 0.0158 Uncertain 7_141420707_T->C 7 141420707 141420707 T C snp 1123.77 0/1 99 96 49 47 0.49 ncRNA_intronic WEE2-AS1 AU 0.571885 0.3343 0.583641 0.5335 0.3172 Uncertain 7_141420768_A->G 7 141420768 141420768 A G snp 1384.77 0/1 99 136 70 66 0.49 exonic WEE2 AU synonymous SNV NM_001105558 exon5 c.A792G p.A264A 0.571885 0.3343 0.585869 0.5333 0.3173 Uncertain 7_141429225_C->- 7 141429225 141429225 C - indel 514.73 0/1 99 23 9 14 0.61 ncRNA_intronic WEE2-AS1 AU 0.478035 0.255 Uncertain 7_141429515_G->A 7 141429515 141429515 G A snp 229.77 0/1 99 21 13 8 0.38 ncRNA_intronic WEE2-AS1 AU 0.376198 0.255 0.431898 0.4291 0.2552 Uncertain 7_141439211_T->C 7 141439211 141439211 T C snp 150.77 0/1 57 7 2 5 0.71 intronic SSBP1 AU NM_001256513 exon2 c.24+221T>C Uncertain 7_141442213_G->A 7 141442213 141442213 G A snp 62.77 0/1 91 15 12 3 0.2 intronic SSBP1 AU NM_001256513 exon3 c.3063+184G>A 0.508187 0.745 Uncertain 7_141463914_T->C 7 141463914 141463914 T C snp 680.77 0/1 99 48 22 26 0.54 UTR5 rs765007 TAS2R3 AU 0.575679 0.746 0.498462 0.5288 0.7506 Uncertain 7_141464765_C->T 7 141464765 141464765 C T snp 2278.77 0/1 99 250 146 104 0.42 exonic rs2270009 TAS2R3 AU synonymous SNV NM_016943 exon1 c.C807T p.G269G 0.429313 0.6667 0.399200 0.4695 0.6833 Uncertain 7_141478308_T->C 7 141478308 141478308 T C snp 364.77 0/1 99 36 21 15 0.42 exonic rs2233998 TAS2R4 AU nonsynonymous SNV NM_016944 exon1 c.T20C p.F7S 0.430511 0.6667 0.401661 0.4749 0.6838 0.34 T 0.0 P -1.047 T 0.001 T 0.007 T Pathogenic 7_141478574_G->C 7 141478574 141478574 G C snp 2894.77 0/1 99 249 123 126 0.51 exonic rs2234001 TAS2R4 AU nonsynonymous SNV NM_016944 exon1 c.G286C p.V96L 0.526558 0.745 0.449716 0.5167 0.7480 1 T 0.0 P -1.063 T 0.001 T 0.003 T Pathogenic 7_141478800_G->A 7 141478800 141478800 G A snp 2767.77 0/1 99 248 135 113 0.46 exonic rs2234002 TAS2R4 AU nonsynonymous SNV NM_016944 exon1 c.G512A p.S171N 0.491414 0.745 0.413425 0.5063 0.7484 1 T 0.0 P -0.940 T 0.0 T 0.003 T Pathogenic 7_141490107_A->G 7 141490107 141490107 A G snp 231.77 0/1 99 12 5 7 0.58 UTR5 rs2234012 TAS2R5 AU 0.453075 0.7014 Uncertain 7_141490238_G->T 7 141490238 141490238 G T snp 1356.77 0/1 99 108 50 58 0.54 exonic rs2227264 TAS2R5 AU nonsynonymous SNV NM_018980 exon1 c.G77T p.S26I 0.452476 0.7014 0.412348 0.4814 0.7124 0.12 T 0.0 P -1.006 T 0.0 T 0.0 T Pathogenic 7_141536855_C->A 7 141536855 141536855 C A snp 1219.77 0/1 99 84 39 45 0.54 intronic rs7806186 PRSS37 AU NM_001171951 exon2 c.717-56C>A 0.152556 0.2222 Uncertain 7_141536866_C->T 7 141536866 141536866 C T snp 1463.77 0/1 99 112 55 57 0.51 intronic rs7806190 PRSS37 AU NM_001171951 exon2 c.717-45C>T 0.152955 0.2232 0.153006 0.1610 0.2362 Uncertain 7_141537116_G->A 7 141537116 141537116 G A snp 835.77 0/1 99 65 33 32 0.49 intronic rs7805542 PRSS37 AU NM_001171951 exon2 c.854+68G>A 0.152556 0.2222 Uncertain 7_141537169_C->T 7 141537169 141537169 C T snp 562.77 0/1 99 47 24 23 0.49 intronic rs7806657 PRSS37 AU NM_001171951 exon2 c.854+121C>T 0.152955 0.2222 Uncertain 7_141537237_C->T 7 141537237 141537237 C T snp 1046.77 0/1 99 90 51 39 0.43 intronic rs7806797 PRSS37 AU NM_001171951 exon2 c.854+189C>T 0.152756 0.2222 Uncertain 7_141537297_T->G 7 141537297 141537297 T G snp 1746.77 0/1 99 158 87 71 0.45 intronic rs3823668 PRSS37 AU NM_001171951 exon2 c.854+249T>G 0.152556 0.2222 Uncertain 7_141537541_A->G 7 141537541 141537541 A G snp 32.77 0/1 61 7 5 2 0.29 intronic rs3800990 PRSS37 AU NM_001008270 exon3 c.1465-118A>G 0.152756 0.2222 Uncertain 7_141537735_T->G 7 141537735 141537735 T G snp 630.77 0/1 99 53 29 24 0.45 exonic rs12669721 PRSS37 AU nonsynonymous SNV NM_001008270 exon3 c.A355C p.T119P 0.529353 0.755 0.445487 0.5083 0.7623 0.7 T 0.0 P -0.982 T 0.0 T 0.0 T Pathogenic 7_141538090_G->- 7 141538090 141538090 G - indel 354.73 0/1 99 25 11 14 0.56 intronic rs75612846 PRSS37 AU NM_001171951 exon3 c.1719+177delG 0.152556 0.2222 Uncertain 7_141538741_T->C 7 141538741 141538741 T C snp 550.77 0/1 99 51 25 26 0.51 intronic rs73171695 PRSS37 AU NM_001171951 exon4 c.2943-396T>C 0.152556 0.2222 0.1643 0.2744 Uncertain 7_141538865_A->G 7 141538865 141538865 A G snp 408.77 0/1 99 30 14 16 0.53 intronic rs12703412 PRSS37 AU NM_001171951 exon4 c.2943-272A>G 0.529353 0.755 Uncertain 7_141539075_G->A 7 141539075 141539075 G A snp 447.77 0/1 99 47 26 21 0.45 intronic rs62478495 PRSS37 AU NM_001171951 exon4 c.2943-62G>A 0.152556 0.2222 Uncertain 7_141540561_C->T 7 141540561 141540561 C T snp 37.77 0/1 66 6 4 2 0.33 intronic rs7786579 PRSS37 AU NM_001171951 exon5 c.4621-254C>T 0.152556 0.2222 Uncertain 7_141540680_G->A 7 141540680 141540680 G A snp 792.77 0/1 99 80 45 35 0.44 intronic rs10454323 PRSS37 AU NM_001171951 exon5 c.4621-135G>A 0.153155 0.2232 Uncertain 7_141540741_G->A 7 141540741 141540741 G A snp 2012.77 0/1 99 168 78 90 0.54 intronic rs10454324 PRSS37 AU NM_001171951 exon5 c.4621-74G>A 0.147963 0.2222 0.149365 Uncertain 7_141540774_A->C 7 141540774 141540774 A C snp 2363.77 0/1 99 192 92 100 0.52 intronic rs10454325 PRSS37 AU NM_001171951 exon5 c.4621-41A>C 0.15635 0.2222 0.152622 0.1611 0.2369 Uncertain 7_141635538_-->A 7 141635538 141635538 - A indel 1840.73 1/1 99 42 0 42 1.0 intronic rs5888023 CLEC5A AU NM_013252 exon3 c.5710-75insA Uncertain 7_141672705_G->A 7 141672705 141672705 G A snp 4933.77 1/1 99 182 2 180 0.99 exonic rs1726866 TAS2R38 AD nonsynonymous SNV NM_176817 exon1 c.C785T p.A262V 0.425519 0.3244 0.475704 0.5075 0.3296 0.05 T 0.0 P -0.947 T 0.097 T 0.117 T CLINSIG=drug-response;CLNDBN=Phenylthiocarbamide_tasting;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000003039.1;CLNDSDB=MedGen;CLNDSDBID=C1868398 ID=CM031369;DIS=Phenylthiocarbamide taste sensitivity, association;TAG=DP;PUB=12595690 DP Pathogenic 7_141705515_A->T 7 141705515 141705515 A T snp 1075.77 1/1 78 36 0 36 1.0 intronic MGAM AU NM_004668 exon2 c.127+58A>T 0.744409 0.9881 Uncertain 7_141705540_A->C 7 141705540 141705540 A C snp 258.77 0/1 99 31 21 10 0.32 intronic MGAM AU NM_004668 exon2 c.127+83A>C 0.454073 0.6825 Uncertain 7_141708625_A->C 7 141708625 141708625 A C snp 108.77 0/1 99 9 4 5 0.56 intronic MGAM AU NM_004668 exon3 c.3175+120A>C 0.499002 0.6935 Uncertain 7_141718951_C->T 7 141718951 141718951 C T snp 673.77 0/1 99 63 34 29 0.46 intronic MGAM AU NM_004668 exon4 c.13668-47C>T 0.107228 0.1835 0.098609 0.1219 0.2177 Uncertain 7_141720643_T->C 7 141720643 141720643 T C snp 839.77 0/1 99 80 44 36 0.45 intronic MGAM AU NM_004668 exon5 c.15443-130T>C 0.606829 0.8006 Uncertain 7_141730619_TG->- 7 141730619 141730620 TG - indel 710.73 0/1 99 39 6 33 0.85 intronic MGAM AU NM_004668 exon12 c.25227+62_25227+63delTG Uncertain 7_141731340_G->A 7 141731340 141731340 G A snp 116.77 0/1 99 8 4 4 0.5 intronic MGAM AU NM_004668 exon13 c.26149-139G>A 0.420927 0.5962 Uncertain 7_141733994_-->TG 7 141733994 141733994 - TG indel 2143.73 1/1 99 46 0 46 1.0 intronic MGAM AU NM_004668 exon15 c.28731-67insTG 0.775759 0.7976 Uncertain 7_141736798_T->C 7 141736798 141736798 T C snp 1527.77 0/1 99 116 56 60 0.52 intronic MGAM AU NM_004668 exon18 c.31447+21T>C 0.297125 0.2024 0.293189 0.2495 0.2135 Uncertain 7_141738504_C->T 7 141738504 141738504 C T snp 775.77 0/1 99 73 35 38 0.52 intronic MGAM AU NM_004668 exon19 c.33085+89C>T 0.588458 0.4087 Uncertain 7_141740409_A->G 7 141740409 141740409 A G snp 265.77 0/1 99 29 17 12 0.41 intronic MGAM AU NM_004668 exon21 c.35191-112A>G 0.592851 0.4137 Uncertain 7_141747499_A->G 7 141747499 141747499 A G snp 876.77 0/1 99 49 21 28 0.57 intronic MGAM AU NM_004668 exon22 c.42254-85A>G 0.165335 0.1964 Uncertain 7_141747658_A->G 7 141747658 141747658 A G snp 6321.77 1/1 99 237 0 237 1.0 exonic MGAM AU nonsynonymous SNV NM_004668 exon22 c.A2572G p.N858D 0.994409 1 0.992608 0.9981 1 1 T 0.001 P -0.928 T 0.0 T 0.0 T Pathogenic 7_141750203_T->A 7 141750203 141750203 T A snp 93.28 1/1 9 3 0 3 1.0 intronic MGAM AU NM_004668 exon23 c.44754+119T>A 0.59405 0.4067 Uncertain 7_141750472_A->G 7 141750472 141750472 A G snp 1237.77 0/1 99 121 63 58 0.48 intronic MGAM AU NM_004668 exon24 c.45166-24A>G 0.430112 0.4058 0.468634 0.5574 0.4295 Uncertain 7_141755358_T->C 7 141755358 141755358 T C snp 2116.77 0/1 99 155 70 85 0.55 exonic MGAM AU synonymous SNV NM_004668 exon28 c.T3315C p.I1105I 0.231629 0.1984 0.198596 0.2161 0.2155 Uncertain 7_141755795_C->T 7 141755795 141755795 C T snp 469.77 0/1 99 52 34 18 0.35 splicing MGAM AU NM_004668 exon29 c.50469-4C>T 0.463458 0.2073 0.523975 0.5276 0.2338 Pathogenic 7_141755987_G->T 7 141755987 141755987 G T snp 2142.77 0/1 99 155 63 92 0.59 intronic MGAM AU NM_004668 exon29 c.50566+91G>T 0.46246 0.2073 Uncertain 7_141760040_C->T 7 141760040 141760040 C T snp 246.77 0/1 99 21 13 8 0.38 intronic MGAM AU NM_004668 exon34 c.54780-70C>T Uncertain 7_141760228_T->C 7 141760228 141760228 T C snp 2771.77 0/1 99 248 132 116 0.47 intronic MGAM AU NM_004668 exon34 c.54843+55T>C Uncertain 7_141760293_T->G 7 141760293 141760293 T G snp 1849.77 0/1 99 161 87 74 0.46 intronic MGAM AU NM_004668 exon34 c.54843+120T>G 0.613219 0.4107 Uncertain 7_141760294_G->C 7 141760294 141760294 G C snp 236.77 0/1 99 157 141 16 0.1 intronic MGAM AU NM_004668 exon34 c.54843+121G>C 0.36881 0.1915 Uncertain 7_141760301_C->G 7 141760301 141760301 C G snp 199.77 0/1 99 139 125 14 0.1 intronic MGAM AU NM_004668 exon34 c.54843+128C>G 0.00559105 0.003 Uncertain 7_141760306_G->A 7 141760306 141760306 G A snp 223.77 0/1 99 121 108 13 0.11 intronic MGAM AU NM_004668 exon34 c.54843+133G>A 0.00878594 0.006 Uncertain 7_141760312_T->G 7 141760312 141760312 T G snp 88.77 0/1 99 105 96 9 0.09 intronic MGAM AU NM_004668 exon34 c.54843+139T>G 0.239617 0.3026 Uncertain 7_141760318_A->G 7 141760318 141760318 A G snp 31.77 0/1 60 96 89 7 0.07 intronic MGAM AU NM_004668 exon34 c.54843+145A>G 0.0361422 0.0883 Uncertain 7_141760348_T->G 7 141760348 141760348 T G snp 425.77 0/1 99 53 39 14 0.26 intronic MGAM AU NM_004668 exon34 c.54843+175T>G 0.214856 0.4167 Uncertain 7_141762625_A->G 7 141762625 141762625 A G snp 236.77 0/1 99 15 5 10 0.67 intronic MGAM AU NM_004668 exon35 c.57172+123A>G 0.367412 0.494 Uncertain 7_141763262_T->G 7 141763262 141763262 T G snp 721.77 0/1 99 47 23 24 0.51 intronic MGAM AU NM_004668 exon36 c.57968-36T>G 0.204273 0.3849 0.103822 0.1444 0.4299 Uncertain 7_141764164_C->T 7 141764164 141764164 C T snp 182.9 1/1 15 8 0 8 1.0 intronic MGAM AU NM_004668 exon37 c.58853-19C>T 0.589457 0.877 0.551588 0.6401 0.8780 Uncertain 7_141765764_TTTTGTTTT->- 7 141765764 141765772 TTTTGTTTT - indel 640.27 1/1 1 12 1 11 0.92 intronic MGAM AU NM_004668 exon38 c.59938+496_59938+504delTTTTGTTTT Uncertain 7_141767318_G->A 7 141767318 141767318 G A snp 147.77 0/1 99 15 8 7 0.47 intronic MGAM AU NM_004668 exon38 c.59938+2050G>A 0.291134 0.5486 Uncertain 7_141767349_T->C 7 141767349 141767349 T C snp 107.03 1/1 12 4 0 4 1.0 intronic MGAM AU NM_004668 exon38 c.59938+2081T>C 0.944289 0.999 Uncertain 7_141770670_T->A 7 141770670 141770670 T A snp 152.77 0/1 99 10 4 6 0.6 intronic MGAM AU NM_004668 exon38 c.59938+5402T>A 0.114617 0.0397 Uncertain 7_141776782_A->G 7 141776782 141776782 A G snp 1280.77 0/1 99 85 38 47 0.55 intronic MGAM AU NM_004668 exon38 c.59938+11514A>G 0.273363 0.3155 Uncertain 7_141778848_T->A 7 141778848 141778848 T A snp 2108.77 0/1 99 171 85 86 0.5 intronic MGAM AU NM_004668 exon38 c.59938+13580T>A 0.0263578 0.0357 0.0212 0.0662 Uncertain 7_141781821_A->G 7 141781821 141781821 A G snp 1307.77 0/1 99 93 45 48 0.52 intronic MGAM AU NM_004668 exon39 c.89089-12598A>G 0.199481 0.0367 0.0999 0.0585 Uncertain 7_141781935_G->A 7 141781935 141781935 G A snp 2478.77 0/1 99 222 111 111 0.5 intronic MGAM AU NM_004668 exon39 c.89089-12484G>A 0.246006 0.1141 0.1197 0.1234 Uncertain 7_141784299_A->G 7 141784299 141784299 A G snp 1609.77 0/1 99 121 59 62 0.51 intronic MGAM AU NM_004668 exon39 c.89089-10120A>G 0.184704 0.0387 0.0973 0.0613 Uncertain 7_141784326_G->C 7 141784326 141784326 G C snp 2092.77 0/1 99 171 81 90 0.53 intronic MGAM AU NM_004668 exon39 c.89089-10093G>C 0.2498 0.2917 0.3450 0.3120 0 D 0.939 P -1.061 T Uncertain 7_141784474_G->C 7 141784474 141784474 G C snp 2009.77 0/1 99 144 65 79 0.55 intronic MGAM AU NM_004668 exon39 c.89089-9945G>C 0.233826 0.1121 0.1169 0.1240 Uncertain 7_141784561_A->G 7 141784561 141784561 A G snp 519.77 0/1 99 24 7 17 0.71 intronic MGAM AU NM_004668 exon39 c.89089-9858A>G 0.0347444 0.0377 Uncertain 7_141786527_C->G 7 141786527 141786527 C G snp 132.03 1/1 12 4 0 4 1.0 intronic MGAM AU NM_004668 exon39 c.89089-7892C>G 0.228634 0.2103 5.618e-05 0 Uncertain 7_141786556_C->G 7 141786556 141786556 C G snp 314.78 1/1 24 11 0 11 1.0 intronic MGAM AU NM_004668 exon39 c.89089-7863C>G 0.24401 0.2312 0.0002 0.0003 Uncertain 7_141786561_A->C 7 141786561 141786561 A C snp 319.78 1/1 24 12 0 12 1.0 intronic MGAM AU NM_004668 exon39 c.89089-7858A>C 0.245607 0.2321 0.0002 0.0003 Uncertain 7_141786582_A->T 7 141786582 141786582 A T snp 307.78 1/1 24 14 0 14 1.0 intronic MGAM AU NM_004668 exon39 c.89089-7837A>T 0.267572 0.2411 Uncertain 7_141786600_T->C 7 141786600 141786600 T C snp 322.78 1/1 24 15 0 15 1.0 intronic MGAM AU NM_004668 exon39 c.89089-7819T>C 0.269569 0.2391 Uncertain 7_141786666_C->T 7 141786666 141786666 C T snp 282.8 1/1 21 14 0 14 1.0 intronic MGAM AU NM_004668 exon39 c.89089-7753C>T 0.271166 0.2113 Uncertain 7_141786712_C->T 7 141786712 141786712 C T snp 99.28 1/1 9 3 0 3 1.0 intronic MGAM AU NM_004668 exon39 c.89089-7707C>T 0.260783 0.2034 Uncertain 7_141792629_A->G 7 141792629 141792629 A G snp 46.77 0/1 31 4 2 2 0.5 intronic MGAM AU NM_004668 exon39 c.89089-1790A>G 0.900759 0.8938 Uncertain 7_141794764_TT->- 7 141794764 141794765 TT - indel 348.73 0/1 99 51 7 44 0.86 intronic MGAM AU NM_004668 exon40 c.89333+101_89333+102delTT 0.886781 0.9028 Uncertain 7_141794790_A->G 7 141794790 141794790 A G snp 263.77 0/1 99 15 6 9 0.6 intronic MGAM AU NM_004668 exon40 c.89333+127A>G 0.905551 0.9097 Uncertain 7_141796131_G->A 7 141796131 141796131 G A snp 946.77 0/1 99 110 66 44 0.4 exonic MGAM AU synonymous SNV NM_004668 exon42 c.G4920A p.E1640E 0.677915 0.8423 0.7301 0.7765 Uncertain 7_141796250_C->T 7 141796250 141796250 C T snp 657.77 0/1 99 51 24 27 0.53 intronic MGAM AU NM_004668 exon42 c.90885+35C>T 0.808906 0.872 0.8980 0.8223 Uncertain 7_141844888_C->G 7 141844888 141844888 C G snp 2988.77 1/1 99 107 0 107 1.0 intronic LOC93432 AU NM_001293626 exon14 c.28072+143C>G 0.260184 0.5 Uncertain 7_141853608_G->A 7 141853608 141853608 G A snp 40.78 0/1 27 3 1 2 0.67 intronic LOC93432 AU NM_001293626 exon16 c.37144-209G>A 0.207268 0.2808 Uncertain 7_141857846_A->G 7 141857846 141857846 A G snp 4684.77 1/1 99 162 0 162 1.0 exonic LOC93432 AU nonsynonymous SNV NM_001293626 exon18 c.A2033G p.H678R 0.995008 1 0.9993 1 1 T -0.930 T Pathogenic 7_141857985_A->G 7 141857985 141857985 A G snp 1891.77 0/1 99 172 95 77 0.45 intronic LOC93432 AU NM_001293626 exon19 c.41374-62A>G 0.229633 0.2827 Uncertain 7_141870134_G->T 7 141870134 141870134 G T snp 612.77 1/1 45 20 1 19 0.95 intronic LOC93432 AU NM_001293626 exon27 c.53356+105G>T 0.479034 0.6994 Uncertain 7_141871251_A->T 7 141871251 141871251 A T snp 4448.77 1/1 99 164 0 164 1.0 intronic LOC93432 AU NM_001293626 exon28 c.54567+11A>T 0.507987 0.6994 0.4313 0.7624 Uncertain 7_141872874_T->C 7 141872874 141872874 T C snp 136.03 1/1 12 4 0 4 1.0 intronic LOC93432 AU NM_001293626 exon31 c.56355-154T>C 0.607428 0.5903 Uncertain 7_141872892_G->A 7 141872892 141872892 G A snp 387.77 1/1 30 10 0 10 1.0 intronic LOC93432 AU NM_001293626 exon31 c.56355-136G>A 0.610823 0.5903 Uncertain 7_141872996_A->G 7 141872996 141872996 A G snp 2324.77 1/1 99 81 0 81 1.0 intronic LOC93432 AU NM_001293626 exon31 c.56355-32A>G 0.236222 0.3224 0.2401 0.365 Uncertain 7_141873000_T->A 7 141873000 141873000 T A snp 2463.77 1/1 99 86 0 86 1.0 intronic LOC93432 AU NM_001293626 exon31 c.56355-28T>A 0.580871 0.5903 0.5210 0.6263 Uncertain 7_141875431_C->T 7 141875431 141875431 C T snp 1940.77 1/1 99 73 0 73 1.0 intronic LOC93432 AU NM_001293626 exon32 c.58778-20C>T 0.236022 0.3562 0.2554 0.3960 Uncertain 7_141875594_C->A 7 141875594 141875594 C A snp 2430.77 1/1 99 85 0 85 1.0 intronic LOC93432 AU NM_001293626 exon32 c.58907+14C>A 0.236022 0.3562 0.2579 0.3939 Uncertain 7_141875670_C->T 7 141875670 141875670 C T snp 240.77 0/1 99 30 21 9 0.3 intronic LOC93432 AU NM_001293626 exon32 c.58907+90C>T 0.00838658 0.0407 Uncertain 7_141875671_C->G 7 141875671 141875671 C G snp 903.77 1/1 66 30 0 30 1.0 intronic LOC93432 AU NM_001293626 exon32 c.58907+91C>G 0.235823 0.3562 Uncertain 7_141884683_AT->- 7 141884683 141884684 AT - indel 1467.73 1/1 87 29 0 29 1.0 intronic LOC93432 AU NM_001293626 exon34 c.68203-193_68203-192delAT 0.233626 0.3522 Uncertain 7_141885945_T->- 7 141885945 141885945 T - indel 876.84 0/1 16 70 8 62 0.89 intronic LOC93432 AU NM_001293626 exon35 c.69250+22delT 0.4551 0.4643 Uncertain 7_141887648_T->C 7 141887648 141887648 T C snp 321.77 0/1 99 24 10 14 0.58 intronic LOC93432 AU NM_001293626 exon36 c.70961+14T>C 0.0165735 0.0665 0.0020 0.0505 Uncertain 7_141896059_A->G 7 141896059 141896059 A G snp 559.77 0/1 99 61 33 28 0.46 exonic LOC93432 AU synonymous SNV NM_001293626 exon38 c.A4452G p.A1484A 0.619808 0.495 0.6453 0.5486 Uncertain 7_141897595_T->C 7 141897595 141897595 T C snp 1003.77 0/1 99 89 48 41 0.46 intronic LOC93432 AU NM_001293626 exon42 c.80855+67T>C 0.719848 0.6597 Uncertain 7_141898023_C->A 7 141898023 141898023 C A snp 1577.77 0/1 99 199 118 81 0.41 intronic LOC93432 AU NM_001293626 exon43 c.81322+28C>A 0.423123 0.499 0.4390 0.5 Uncertain 7_141898522_T->A 7 141898522 141898522 T A snp 3118.77 1/1 99 111 0 111 1.0 exonic LOC93432 AU synonymous SNV NM_001293626 exon44 c.T5031A p.A1677A 0.997204 1 0.9995 1 Uncertain 7_141898680_T->C 7 141898680 141898680 T C snp 74.77 0/1 99 8 5 3 0.38 intronic LOC93432 AU NM_001293626 exon44 c.81866+141T>C 0.710264 0.6657 Uncertain 7_141901322_G->A 7 141901322 141901322 G A snp 1309.77 0/1 99 117 60 57 0.49 intronic LOC93432 AU NM_001293626 exon45 c.83095+1554G>A 0.695088 0.6597 Uncertain 7_141901506_C->T 7 141901506 141901506 C T snp 505.77 0/1 99 40 23 17 0.42 intronic LOC93432 AU NM_001293626 exon45 c.83095+1738C>T 0.756989 0.6657 Uncertain 7_141955641_C->T 7 141955641 141955641 C T snp 86.28 1/1 9 3 0 3 1.0 intronic PRSS58 AU NM_001001317 exon4 c.3453+148C>T 0.0321486 0.1319 Uncertain 7_141957504_A->G 7 141957504 141957504 A G snp 2071.77 0/1 99 172 81 91 0.53 exonic PRSS58 AU synonymous SNV NM_001001317 exon2 c.T24C p.A8A 0.279353 0.5109 0.194679 0.2845 0.5059 Uncertain 7_142001030_A->G 7 142001030 142001030 A G snp 4105.77 1/1 99 145 0 145 1.0 intergenic TRY2P AU 0.982827 1 0.979253 0.9903 0.9999 Uncertain 7_142008327_C->A 7 142008327 142008327 C A snp 44.74 1/1 6 2 0 2 1.0 intergenic rs375637652 TRY2P AU Uncertain 7_142008352_C->T 7 142008352 142008352 C T snp 68.77 0/1 97 10 7 3 0.3 intergenic rs368377116 TRY2P AU Uncertain 7_142008403_C->G 7 142008403 142008403 C G snp 74.77 0/1 99 42 37 5 0.12 intergenic rs376053846 TRY2P AU 0.1881 0.1650 Uncertain 7_142008408_T->G 7 142008408 142008408 T G snp 62.77 0/1 91 48 42 6 0.13 intergenic rs370407588 TRY2P AU 0.1733 0.1472 Uncertain 7_142008434_G->A 7 142008434 142008434 G A snp 129.77 0/1 99 79 70 9 0.11 intergenic rs753120387 TRY2P AU 0.0691 0.0433 Uncertain 7_142008440_T->C 7 142008440 142008440 T C snp 150.77 0/1 99 92 81 11 0.12 intergenic rs763191134 TRY2P AU 0.0642 0.0381 Uncertain 7_142008442_T->C 7 142008442 142008442 T C snp 185.77 0/1 99 97 85 12 0.12 intergenic rs750329710 TRY2P AU 0.0627 0.0360 Uncertain 7_142008453_C->G 7 142008453 142008453 C G snp 184.77 0/1 99 110 95 15 0.14 intergenic rs753690010 TRY2P AU 0.0357 0.0158 Uncertain 7_142008469_C->T 7 142008469 142008469 C T snp 350.77 0/1 99 141 118 23 0.16 intergenic rs568742636 TRY2P AU 0.000199681 0.0358 0.0141 Uncertain 7_142008477_G->A 7 142008477 142008477 G A snp 310.77 0/1 99 156 134 22 0.14 intergenic rs777266219 TRY2P AU 0.0325 0.0124 Uncertain 7_142008484_T->A 7 142008484 142008484 T A snp 322.77 0/1 99 164 139 25 0.15 intergenic rs771488938 TRY2P AU 0.0300 0.0112 Uncertain 7_142008491_A->G 7 142008491 142008491 A G snp 289.77 0/1 99 173 148 25 0.14 intergenic rs769903053 TRY2P AU 0.0276 0.0098 Uncertain 7_142008502_T->C 7 142008502 142008502 T C snp 297.77 0/1 99 186 162 24 0.13 intergenic rs370591069 TRY2P AU 0.0204 0.0064 Uncertain 7_142008503_A->G 7 142008503 142008503 A G snp 341.77 0/1 99 187 160 27 0.14 intergenic rs374061454 TRY2P AU 0.0207 0.0065 Uncertain 7_142008529_C->G 7 142008529 142008529 C G snp 392.77 0/1 99 214 184 30 0.14 intergenic rs367608484 TRY2P AU 0.0037 0.0012 Uncertain 7_142008534_C->T 7 142008534 142008534 C T snp 389.77 0/1 99 216 185 31 0.14 intergenic rs371453843 TRY2P AU 0.000599042 0.0002 0.0003 Uncertain 7_142008535_G->A 7 142008535 142008535 G A snp 388.77 0/1 99 219 189 30 0.14 intergenic rs375410790 TRY2P AU 0.0001 0.0001 Uncertain 7_142008536_T->C 7 142008536 142008536 T C snp 402.77 0/1 99 217 187 30 0.14 intergenic rs368645176 TRY2P AU Uncertain 7_142008542_A->G 7 142008542 142008542 A G snp 543.77 0/1 99 230 191 39 0.17 intergenic rs373709044 TRY2P AU 0.0035 0.0012 Uncertain 7_142008573_G->A 7 142008573 142008573 G A snp 433.77 0/1 99 235 199 36 0.15 intergenic rs375153223 TRY2P AU 0.0035 0.0012 Uncertain 7_142008577_G->A 7 142008577 142008577 G A snp 430.77 0/1 99 231 198 33 0.14 intergenic rs369645839 TRY2P AU 0.0035 0.0012 Uncertain 7_142008581_C->A 7 142008581 142008581 C A snp 414.77 0/1 99 230 198 32 0.14 intergenic rs371566486 TRY2P AU 0.0032 0.0011 Uncertain 7_142008582_T->C 7 142008582 142008582 T C snp 447.77 0/1 99 230 196 34 0.15 intergenic rs375333722 TRY2P AU 0.0032 0.0011 Uncertain 7_142008593_T->C 7 142008593 142008593 T C snp 492.77 0/1 99 222 189 33 0.15 intergenic rs368999058 TRY2P AU 0.0019 0.0003 Uncertain 7_142008635_C->A 7 142008635 142008635 C A snp 44.77 0/1 73 168 155 13 0.08 intergenic rs561888315 TRY2P AU 4.364e-05 0.0006 Uncertain 7_142008636_G->A 7 142008636 142008636 G A snp 51.77 0/1 80 166 153 13 0.08 intergenic rs756720602 TRY2P AU 1.744e-05 0 Uncertain 7_142008638_C->G 7 142008638 142008638 C G snp 68.77 0/1 97 164 150 14 0.09 intergenic TRY2P AU Uncertain 7_142008639_A->G 7 142008639 142008639 A G snp 65.77 0/1 94 161 148 13 0.08 intergenic rs779263913 TRY2P AU 1.715e-05 0 Uncertain 7_142008644_C->T 7 142008644 142008644 C T snp 80.77 0/1 99 155 141 14 0.09 intergenic rs748166721 TRY2P AU 0.0056 0.0010 Uncertain 7_142008645_A->C 7 142008645 142008645 A C snp 86.77 0/1 99 153 140 13 0.08 intergenic rs772136756 TRY2P AU 0.0056 0.0010 Uncertain 7_142008653_T->A 7 142008653 142008653 T A snp 156.77 0/1 99 153 137 16 0.1 intergenic rs370721246 TRY2P AU 0.0056 0.0010 Uncertain 7_142008672_G->A 7 142008672 142008672 G A snp 161.77 0/1 99 145 130 15 0.1 intergenic rs773996703 TRY2P AU 0.0099 0.0017 Uncertain 7_142008675_A->G 7 142008675 142008675 A G snp 138.77 0/1 99 142 129 13 0.09 intergenic rs376217909 TRY2P AU 0.0100 0.0017 Uncertain 7_142008718_T->C 7 142008718 142008718 T C snp 498.77 0/1 99 140 113 27 0.19 intergenic rs754252964 TRY2P AU 0.0111 0.0016 Uncertain 7_142008727_G->T 7 142008727 142008727 G T snp 569.77 0/1 99 142 113 29 0.2 intergenic rs779162585 TRY2P AU 0.0110 0.0016 Uncertain 7_142008733_A->G 7 142008733 142008733 A G snp 529.77 0/1 99 148 119 29 0.2 intergenic rs758566871 TRY2P AU 0.0110 0.0017 Uncertain 7_142008737_T->C 7 142008737 142008737 T C snp 566.77 0/1 99 147 118 29 0.2 intergenic rs747129317 TRY2P AU 0.0110 0.0017 Uncertain 7_142008745_T->C 7 142008745 142008745 T C snp 537.77 0/1 99 146 117 29 0.2 intergenic rs769712210 TRY2P AU 0.0120 0.0019 Uncertain 7_142008746_C->A 7 142008746 142008746 C A snp 535.77 0/1 99 146 118 28 0.19 intergenic rs780022611 TRY2P AU 0.0120 0.0019 Uncertain 7_142008750_A->T 7 142008750 142008750 A T snp 578.77 0/1 99 148 119 29 0.2 intergenic rs749236206 TRY2P AU 0.0120 0.0019 Uncertain 7_142008783_A->G 7 142008783 142008783 A G snp 673.77 0/1 99 158 121 37 0.23 intergenic rs765600772 TRY2P AU 0.0787 0.0293 Uncertain 7_142008785_A->C 7 142008785 142008785 A C snp 686.77 0/1 99 157 121 36 0.23 intergenic rs753047650 TRY2P AU 0.0788 0.0293 Uncertain 7_142008799_C->T 7 142008799 142008799 C T snp 580.77 0/1 99 164 126 38 0.23 intergenic rs17236 TRY2P AU 0.1002 0.0717 Uncertain 7_142008803_C->T 7 142008803 142008803 C T snp 591.77 0/1 99 164 125 39 0.24 intergenic rs751623266 TRY2P AU 0.1857 0.1256 Uncertain 7_142008879_C->T 7 142008879 142008879 C T snp 457.77 0/1 99 100 76 24 0.24 intergenic rs753095164 TRY2P AU 0.2240 0.1894 Uncertain 7_142008881_G->A 7 142008881 142008881 G A snp 419.77 0/1 99 95 73 22 0.23 intergenic rs767939180 TRY2P AU 0.2159 0.1825 Uncertain 7_142008884_A->G 7 142008884 142008884 A G snp 436.77 0/1 99 91 69 22 0.24 intergenic rs751723667 TRY2P AU 0.2157 0.1822 Uncertain 7_142008887_T->C 7 142008887 142008887 T C snp 439.77 0/1 99 90 68 22 0.24 intergenic rs757493739 TRY2P AU 0.2146 0.1811 Uncertain 7_142008934_A->T 7 142008934 142008934 A T snp 104.77 0/1 99 38 32 6 0.16 intergenic TRY2P AU Uncertain 7_142008939_A->C 7 142008939 142008939 A C snp 112.77 0/1 99 35 29 6 0.17 intergenic TRY2P AU Uncertain 7_142008941_C->T 7 142008941 142008941 C T snp 112.77 0/1 99 35 29 6 0.17 intergenic rs551949606 TRY2P AU 0.000199681 Uncertain 7_142008959_G->A 7 142008959 142008959 G A snp 75.77 0/1 99 22 18 4 0.18 intergenic rs779836298 TRY2P AU Uncertain 7_142013384_G->C 7 142013384 142013384 G C snp 6725.77 1/1 99 246 0 246 1.0 intergenic rs361401 TRY2P AU 0.978634 1 0.978368 0.9942 1 Uncertain 7_142020830_T->G 7 142020830 142020830 T G snp 702.77 0/1 99 43 20 23 0.53 intergenic TRY2P AU 0.0299521 0.13 0.001533 Uncertain 7_142028108_A->C 7 142028108 142028108 A C snp 607.77 1/1 45 17 0 17 1.0 intergenic TRY2P AU 0.973842 1 0.976566 Uncertain 7_142028449_A->G 7 142028449 142028449 A G snp 151.77 0/1 99 229 200 29 0.13 intergenic rs756344822 TRY2P AU 0.0003 0.0004 Uncertain 7_142028462_T->C 7 142028462 142028462 T C snp 353.77 0/1 99 244 205 39 0.16 intergenic rs746905228 TRY2P AU 0.0021 0.0014 Uncertain 7_142028472_C->T 7 142028472 142028472 C T snp 394.77 0/1 99 250 207 43 0.17 intergenic rs780940773 TRY2P AU 0.0021 0.0015 Uncertain 7_142028474_T->G 7 142028474 142028474 T G snp 396.77 0/1 99 250 207 43 0.17 intergenic rs745718840 TRY2P AU 0.0021 0.0015 Uncertain 7_142028475_C->G 7 142028475 142028475 C G snp 430.77 0/1 99 249 204 45 0.18 intergenic rs769638198 TRY2P AU 0.0021 0.0015 Uncertain 7_142028485_C->A 7 142028485 142028485 C A snp 580.77 0/1 99 250 194 56 0.22 intergenic rs748995895 TRY2P AU 0.0021 0.0015 Uncertain 7_142028490_A->C 7 142028490 142028490 A C snp 595.77 0/1 99 250 189 61 0.24 intergenic rs762388753 TRY2P AU 0.0021 0.0015 Uncertain 7_142028500_A->G 7 142028500 142028500 A G snp 582.77 0/1 99 250 195 55 0.22 intergenic rs766779915 TRY2P AU 0.0031 0.0013 Uncertain 7_142028506_C->T 7 142028506 142028506 C T snp 579.77 0/1 99 250 196 54 0.22 intergenic rs765266440 TRY2P AU 0.0031 0.0013 Uncertain 7_142028507_A->G 7 142028507 142028507 A G snp 579.77 0/1 99 250 196 54 0.22 intergenic rs528466517 TRY2P AU 0.00199681 0.0033 0.0013 Uncertain 7_142028533_C->A 7 142028533 142028533 C A snp 600.77 0/1 99 248 194 54 0.22 intergenic rs748861833 TRY2P AU 0.0017 0.0008 Uncertain 7_142028538_G->A 7 142028538 142028538 G A snp 599.77 0/1 99 248 194 54 0.22 intergenic rs768474314 TRY2P AU 0.0016 0.0007 Uncertain 7_142028540_G->A 7 142028540 142028540 G A snp 589.77 0/1 99 250 195 55 0.22 intergenic rs773986811 TRY2P AU 0.0016 0.0007 Uncertain 7_142028542_G->T 7 142028542 142028542 G T snp 578.77 0/1 99 250 196 54 0.22 intergenic rs747725363 TRY2P AU 0.0016 0.0007 Uncertain 7_142028546_T->C 7 142028546 142028546 T C snp 606.77 0/1 99 247 192 55 0.22 intergenic rs771712017 TRY2P AU 0.0015 0.0006 Uncertain 7_142028547_C->T 7 142028547 142028547 C T snp 570.77 0/1 99 248 194 54 0.22 intergenic TRY2P AU 0.00119808 0.0020 0.0006 Uncertain 7_142028551_C->G 7 142028551 142028551 C G snp 607.77 0/1 99 248 194 54 0.22 intergenic rs759651766 TRY2P AU 0.0013 0.0004 Uncertain 7_142028552_A->G 7 142028552 142028552 A G snp 609.77 0/1 99 248 194 54 0.22 intergenic rs765498160 TRY2P AU 0.0013 0.0004 Uncertain 7_142028555_C->T 7 142028555 142028555 C T snp 609.77 0/1 99 247 193 54 0.22 intergenic rs752923678 TRY2P AU 0.0013 0.0004 Uncertain 7_142028578_G->A 7 142028578 142028578 G A snp 625.77 0/1 99 242 190 52 0.21 intergenic rs756117881 TRY2P AU 0.0004 0.0001 Uncertain 7_142032116_TG->- 7 142032116 142032117 TG - indel 763.73 1/1 60 36 0 36 1.0 intergenic rs10567930 TRY2P AU 0.550919 0.5188 0.4346 0.5274 Uncertain 7_142032552_G->A 7 142032552 142032552 G A snp 717.77 0/1 99 249 199 50 0.2 intergenic rs374420400 TRY2P AU 0.0003 0 Uncertain 7_142032571_G->C 7 142032571 142032571 G C snp 819.77 0/1 99 246 191 55 0.22 intergenic rs750573746 TRY2P AU 0.0005 0 Uncertain 7_142032610_A->G 7 142032610 142032610 A G snp 897.77 0/1 99 183 136 47 0.26 intergenic rs756951920 TRY2P AU 0.0016 0 Uncertain 7_142032613_T->C 7 142032613 142032613 T C snp 905.77 0/1 99 181 134 47 0.26 intergenic rs781071046 TRY2P AU 0.0014 0 Uncertain 7_142032614_G->A 7 142032614 142032614 G A snp 948.77 0/1 99 178 131 47 0.26 intergenic rs745486883 TRY2P AU 0.0013 0 Uncertain 7_142032646_G->A 7 142032646 142032646 G A snp 3934.77 1/1 99 127 0 127 1.0 intergenic TRY2P AU 0.960863 1 Uncertain 7_142032654_A->G 7 142032654 142032654 A G snp 650.77 0/1 99 109 79 30 0.28 intergenic rs190649630 TRY2P AU Uncertain 7_142032658_C->A 7 142032658 142032658 C A snp 587.77 0/1 99 102 74 28 0.27 intergenic TRY2P AU Uncertain 7_142032660_A->G 7 142032660 142032660 A G snp 629.77 0/1 99 99 72 27 0.27 intergenic TRY2P AU Uncertain 7_142032677_G->A 7 142032677 142032677 G A snp 464.77 0/1 99 76 55 21 0.28 intergenic rs375896144 TRY2P AU Uncertain 7_142032713_A->T 7 142032713 142032713 A T snp 330.77 0/1 99 36 23 13 0.36 intergenic rs371809716 TRY2P AU Uncertain 7_142032729_A->G 7 142032729 142032729 A G snp 77.77 0/1 99 21 16 5 0.24 intergenic TRY2P AU Uncertain 7_142032764_T->A 7 142032764 142032764 T A snp 80.77 0/1 69 7 2 5 0.71 intergenic TRY2P AU 0.611621 0.631 Uncertain 7_142045446_G->C 7 142045446 142045446 G C snp 480.77 0/1 99 96 73 23 0.24 intergenic rs56060483 TRY2P AU 0.350850 0.3315 0.2274 Uncertain 7_142045449_A->G 7 142045449 142045449 A G snp 470.77 0/1 99 100 77 23 0.23 intergenic rs371824542 TRY2P AU 0.346409 0.3318 0.2274 Uncertain 7_142045518_G->A 7 142045518 142045518 G A snp 845.77 0/1 99 199 155 44 0.22 intergenic rs1960210 TRY2P AU 0.353158 0.3318 0.2275 Uncertain 7_142045613_G->T 7 142045613 142045613 G T snp 1265.77 0/1 99 250 195 55 0.22 intergenic rs2010177 TRY2P AU 0.0131789 0.0099 0.341465 0.3383 0.2923 Uncertain 7_142045678_A->G 7 142045678 142045678 A G snp 963.77 0/1 99 245 199 46 0.19 intergenic rs61750018 TRY2P AU 0.3375 0.2925 Uncertain 7_142045679_C->T 7 142045679 142045679 C T snp 898.77 0/1 99 244 199 45 0.18 intergenic rs375811010 TRY2P AU 0.3375 0.2923 Uncertain 7_142045680_T->C 7 142045680 142045680 T C snp 955.77 0/1 99 243 198 45 0.19 intergenic rs368929746 TRY2P AU 0.3375 0.2925 Uncertain 7_142045683_A->G 7 142045683 142045683 A G snp 995.77 0/1 99 247 202 45 0.18 intergenic rs61750019 TRY2P AU 0.000199681 0.3375 0.2924 Uncertain 7_142045690_A->G 7 142045690 142045690 A G snp 976.77 0/1 99 250 205 45 0.18 intergenic rs61750021 TRY2P AU 0.3375 0.2924 Uncertain 7_142045692_A->G 7 142045692 142045692 A G snp 898.77 0/1 99 250 205 45 0.18 intergenic rs61750022 TRY2P AU 0.3376 0.2924 Uncertain 7_142045693_C->T 7 142045693 142045693 C T snp 957.77 0/1 99 250 205 45 0.18 intergenic rs758376543 TRY2P AU 0.3375 0.2924 Uncertain 7_142045802_T->C 7 142045802 142045802 T C snp 1660.77 0/1 99 210 135 75 0.36 intergenic rs2855871 TRY2P AU 0.3392 0.2923 Uncertain 7_142045848_T->C 7 142045848 142045848 T C snp 5343.77 1/1 99 181 0 181 1.0 intergenic TRY2P AU 0.911741 1 0.888648 0.9131 0.9999 Uncertain 7_142045897_C->T 7 142045897 142045897 C T snp 1319.77 0/1 99 173 111 62 0.36 intergenic TRY2P AU 0.22524 0.2857 Uncertain 7_142045899_A->G 7 142045899 142045899 A G snp 957.77 0/1 99 174 122 52 0.3 intergenic rs2974900 TRY2P AU Uncertain 7_142045912_A->G 7 142045912 142045912 A G snp 724.77 0/1 99 163 119 44 0.27 intergenic rs374368376 TRY2P AU Uncertain 7_142045924_A->G 7 142045924 142045924 A G snp 2456.77 0/1 99 150 40 110 0.73 intergenic TRY2P AU 0.911542 1 Uncertain 7_142099421_G->A 7 142099421 142099421 G A snp 532.77 0/1 99 81 59 22 0.27 intergenic rs777459283 TRY2P AU 0.4638 0.4809 Uncertain 7_142099425_A->G 7 142099425 142099425 A G snp 613.77 0/1 99 91 65 26 0.29 intergenic rs755619554 TRY2P AU 0.4679 0.4829 Uncertain 7_142099438_A->G 7 142099438 142099438 A G snp 954.77 0/1 99 126 86 40 0.32 intergenic rs770724825 TRY2P AU 0.4856 0.4955 Uncertain 7_142099484_G->C 7 142099484 142099484 G C snp 1275.77 0/1 99 250 174 76 0.3 intergenic rs748953924 TRY2P AU 0.4732 0.4954 Uncertain 7_142099512_T->G 7 142099512 142099512 T G snp 579.77 0/1 99 250 206 44 0.18 intergenic rs373830246 TRY2P AU 0.4546 0.4882 Uncertain 7_142099533_T->C 7 142099533 142099533 T C snp 320.77 0/1 99 250 218 32 0.13 intergenic rs750311738 TRY2P AU 0.4079 0.4592 Uncertain 7_142099537_G->T 7 142099537 142099537 G T snp 238.77 0/1 99 250 219 31 0.12 intergenic rs766075228 TRY2P AU 0.4028 0.4557 Uncertain 7_142099541_T->C 7 142099541 142099541 T C snp 260.77 0/1 99 250 217 33 0.13 intergenic rs753563610 TRY2P AU 0.4030 0.4564 Uncertain 7_142099548_A->G 7 142099548 142099548 A G snp 196.77 0/1 99 250 220 30 0.12 intergenic rs778332007 TRY2P AU 0.4016 0.4548 Uncertain 7_142099571_C->T 7 142099571 142099571 C T snp 90.77 0/1 99 250 227 23 0.09 intergenic rs769894734 TRY2P AU 0.1196 0.1179 Uncertain 7_142119873_A->G 7 142119873 142119873 A G snp 57.77 0/1 86 249 186 63 0.25 intergenic rs778350553 TRY2P AU 0.0002 0 Uncertain 7_142119877_G->T 7 142119877 142119877 G T snp 36.77 0/1 65 250 190 60 0.24 intergenic TRY2P AU Uncertain 7_142119878_T->C 7 142119878 142119878 T C snp 82.77 0/1 99 250 187 63 0.25 intergenic TRY2P AU Uncertain 7_142119881_G->A 7 142119881 142119881 G A snp 33.77 0/1 62 250 195 55 0.22 intergenic TRY2P AU Uncertain 7_142119899_C->T 7 142119899 142119899 C T snp 61.77 0/1 90 250 186 64 0.26 intergenic rs763038838 TRY2P AU 8.441e-06 0.0001 Uncertain 7_142119904_CT->- 7 142119904 142119905 CT - indel 3031.73 0/1 99 207 125 82 0.4 intergenic rs569854643 TRY2P AU 0.00259585 0.0129 0.000254 0.0014 0.0168 Uncertain 7_142119928_G->A 7 142119928 142119928 G A snp 165.77 0/1 99 248 180 68 0.27 intergenic rs361387 TRY2P AU 0.00978435 0.0028 0 Uncertain 7_142119935_C->T 7 142119935 142119935 C T snp 224.77 0/1 99 250 180 70 0.28 intergenic TRY2P AU Uncertain 7_142119942_G->T 7 142119942 142119942 G T snp 307.77 0/1 99 250 176 74 0.3 intergenic TRY2P AU Uncertain 7_142119946_G->A 7 142119946 142119946 G A snp 360.77 0/1 99 247 172 75 0.3 intergenic TRY2P AU Uncertain 7_142119959_A->T 7 142119959 142119959 A T snp 343.77 0/1 99 246 172 74 0.3 intergenic TRY2P AU Uncertain 7_142119960_A->C 7 142119960 142119960 A C snp 350.77 0/1 99 247 173 74 0.3 intergenic TRY2P AU Uncertain 7_142119962_T->G 7 142119962 142119962 T G snp 328.77 0/1 99 250 176 74 0.3 intergenic TRY2P AU Uncertain 7_142119998_C->T 7 142119998 142119998 C T snp 291.77 0/1 99 244 169 75 0.31 intergenic TRY2P AU Uncertain 7_142120003_T->C 7 142120003 142120003 T C snp 258.77 0/1 99 245 171 74 0.3 intergenic TRY2P AU Uncertain 7_142120005_A->G 7 142120005 142120005 A G snp 210.77 0/1 99 243 171 72 0.3 intergenic TRY2P AU Uncertain 7_142120049_G->A 7 142120049 142120049 G A snp 334.77 0/1 99 188 130 58 0.31 intergenic rs368651804 TRY2P AU 1.69e-05 0 Uncertain 7_142120058_C->T 7 142120058 142120058 C T snp 328.77 0/1 99 177 122 55 0.31 intergenic rs768713788 TRY2P AU 8.45e-06 0 Uncertain 7_142120155_A->T 7 142120155 142120155 A T snp 664.77 0/1 99 55 30 25 0.45 intergenic TRY2P AU 0.0367412 0.0724 0.030799 0.0349 0.0571 Uncertain 7_142120169_CA->- 7 142120169 142120170 CA - indel 808.73 0/1 99 59 21 38 0.64 intergenic TRY2P AU 0.1011 0.0830 Uncertain 7_142124170_C->T 7 142124170 142124170 C T snp 5920.77 1/1 99 212 0 212 1.0 intergenic TRY2P AU 0.88738 1 0.895595 0.9697 1 Uncertain 7_142124424_T->G 7 142124424 142124424 T G snp 4548.77 1/1 99 159 1 158 0.99 intergenic TRY2P AU 0.885982 1 0.9650 0.9919 Uncertain 7_142131683_G->T 7 142131683 142131683 G T snp 123.77 0/1 99 150 136 14 0.09 intergenic rs767174540 TRY2P AU 0.0012 0.0002 Uncertain 7_142131695_G->C 7 142131695 142131695 G C snp 180.77 0/1 99 154 135 19 0.12 intergenic rs369551572 TRY2P AU 0.0121 0.0051 Uncertain 7_142131702_A->G 7 142131702 142131702 A G snp 160.77 0/1 99 157 138 19 0.12 intergenic rs779481194 TRY2P AU 0.0129 0.0054 Uncertain 7_142131703_A->G 7 142131703 142131703 A G snp 142.77 0/1 99 163 142 21 0.13 intergenic rs267601342 TRY2P AU 0.0129 0.0053 CLINSIG=untested;CLNDBN=Malignant_melanoma;CLNREVSTAT=no_assertion_provided;CLNACC=RCV000067696.2;CLNDSDB=MedGen:SNOMED_CT;CLNDSDBID=C0025202:2092003 Uncertain 7_142131709_T->C 7 142131709 142131709 T C snp 202.77 0/1 99 160 140 20 0.13 intergenic rs747083450 TRY2P AU 0.0144 0.0066 Uncertain 7_142131710_G->A 7 142131710 142131710 G A snp 237.77 0/1 99 161 140 21 0.13 intergenic rs770986305 TRY2P AU 0.0145 0.0069 Uncertain 7_142131734_A->T 7 142131734 142131734 A T snp 759.77 0/1 99 187 140 47 0.25 intergenic rs767105427 TRY2P AU 0.1628 0.1731 Uncertain 7_142131738_-->A 7 142131738 142131738 - A indel 1574.73 0/1 99 190 141 49 0.26 intergenic rs374638413 TRY2P AU 0.1640 0.1772 Uncertain 7_142131746_T->C 7 142131746 142131746 T C snp 857.77 0/1 99 188 139 49 0.26 intergenic rs753389837 TRY2P AU 0.2080 0.2273 Uncertain 7_142131747_G->A 7 142131747 142131747 G A snp 839.77 0/1 99 188 139 49 0.26 intergenic rs368257836 TRY2P AU 0.2138 0.2269 Uncertain 7_142131779_A->T 7 142131779 142131779 A T snp 914.77 0/1 99 198 141 57 0.29 intergenic rs370810757 TRY2P AU 0.4707 0.4922 Uncertain 7_142131832_C->T 7 142131832 142131832 C T snp 840.77 0/1 99 161 114 47 0.29 intergenic rs371240412 TRY2P AU 0.4696 0.4799 Uncertain 7_142131836_C->G 7 142131836 142131836 C G snp 769.77 0/1 99 149 105 44 0.3 intergenic rs375356148 TRY2P AU 0.4642 0.4767 Uncertain 7_142131858_C->A 7 142131858 142131858 C A snp 503.77 0/1 99 115 84 31 0.27 intergenic rs367836940 TRY2P AU 0.3584 0.3708 Uncertain 7_142131868_C->T 7 142131868 142131868 C T snp 480.77 0/1 99 105 79 26 0.25 intergenic rs374575972 TRY2P AU 0.3550 0.3668 Uncertain 7_142131872_G->T 7 142131872 142131872 G T snp 322.77 0/1 99 92 71 21 0.23 intergenic rs368030585 TRY2P AU 0.3513 0.3652 Uncertain 7_142131885_A->T 7 142131885 142131885 A T snp 42.77 0/1 71 71 60 11 0.15 intergenic rs759329620 TRY2P AU 0.3182 0.3135 Uncertain 7_142131889_A->C 7 142131889 142131889 A C snp 32.77 0/1 61 67 58 9 0.13 intergenic rs764691139 TRY2P AU 0.3199 0.3233 Uncertain 7_142131999_T->G 7 142131999 142131999 T G snp 55.77 0/1 84 8 5 3 0.38 intergenic rs530083134 TRY2P AU 0.000798722 Uncertain 7_142139248_A->G 7 142139248 142139248 A G snp 430.77 0/1 99 109 66 43 0.39 intergenic rs777049376 TRY2P AU 0.0006 0 Uncertain 7_142139265_A->G 7 142139265 142139265 A G snp 385.77 0/1 99 145 96 49 0.34 intergenic TRY2P AU 0.00299521 0.0021 0.0002 Uncertain 7_142139271_T->C 7 142139271 142139271 T C snp 2875.77 0/1 99 150 50 100 0.67 intergenic rs146977487 TRY2P AU 0.994808 1 0.9747 0.9688 Uncertain 7_142139272_G->A 7 142139272 142139272 G A snp 2893.77 0/1 99 152 50 102 0.67 intergenic rs138227832 TRY2P AU 0.994808 1 0.9745 0.9683 Uncertain 7_142139296_C->A 7 142139296 142139296 C A snp 373.77 0/1 99 228 159 69 0.3 intergenic rs374460258 TRY2P AU 0.00139776 0.0009 0 Uncertain 7_142139315_G->C 7 142139315 142139315 G C snp 321.77 0/1 99 249 186 63 0.25 intergenic rs776911163 TRY2P AU 0.0003 0 Uncertain 7_142139348_C->T 7 142139348 142139348 C T snp 6258.77 1/1 99 249 2 247 0.99 intergenic TRY2P AU 0.992412 1 0.992120 0.9908 0.9977 Uncertain 7_142143804_A->C 7 142143804 142143804 A C snp 7012.77 1/1 99 250 0 250 1.0 intergenic TRY2P AU 0.992013 1 0.9979 1 Uncertain 7_142143879_A->T 7 142143879 142143879 A T snp 1063.77 0/1 99 249 192 57 0.23 intergenic rs376540425 TRY2P AU 0.1234 0.0834 Uncertain 7_142143906_G->C 7 142143906 142143906 G C snp 1798.77 0/1 99 249 161 88 0.35 intergenic rs770478089 TRY2P AU 0.2903 0.2593 Uncertain 7_142143907_T->C 7 142143907 142143907 T C snp 1889.77 0/1 99 250 160 90 0.36 intergenic rs748755164 TRY2P AU 0.2906 0.2594 Uncertain 7_142143941_T->C 7 142143941 142143941 T C snp 3126.77 0/1 99 250 124 126 0.5 intergenic rs368607254 TRY2P AU 0.000998403 0.002 0.3776 0.3308 Uncertain 7_142143953_G->A 7 142143953 142143953 G A snp 3266.77 0/1 99 250 115 135 0.54 intergenic rs371156869 TRY2P AU 0.3958 0.3405 Uncertain 7_142143993_C->A 7 142143993 142143993 C A snp 3249.77 0/1 99 249 109 140 0.56 intergenic rs374220425 TRY2P AU 0.3987 0.3455 Uncertain 7_142144004_T->A 7 142144004 142144004 T A snp 3299.77 0/1 99 250 111 139 0.56 intergenic rs368631399 TRY2P AU 0.4030 0.3528 Uncertain 7_142144022_T->C 7 142144022 142144022 T C snp 3158.77 0/1 99 248 109 139 0.56 intergenic rs371600923 TRY2P AU 0.3978 0.3454 Uncertain 7_142144059_A->C 7 142144059 142144059 A C snp 2879.77 0/1 99 227 100 127 0.56 intergenic rs751013491 TRY2P AU 0.3864 0.3490 Uncertain 7_142144091_G->A 7 142144091 142144091 G A snp 2054.77 0/1 99 153 76 77 0.5 intergenic rs751709257 TRY2P AU 0.3049 0.2550 Uncertain 7_142144092_G->A 7 142144092 142144092 G A snp 1928.77 0/1 99 151 76 75 0.5 intergenic rs762086593 TRY2P AU 0.3048 0.2548 Uncertain 7_142144101_C->T 7 142144101 142144101 C T snp 1861.77 0/1 99 138 68 70 0.51 intergenic rs539618924 TRY2P AU 0.000998403 0.3022 0.2527 Uncertain 7_142144111_T->C 7 142144111 142144111 T C snp 1535.77 0/1 99 114 54 60 0.53 intergenic rs778952701 TRY2P AU 0.3029 0.2540 Uncertain 7_142144129_A->G 7 142144129 142144129 A G snp 972.77 0/1 99 80 40 40 0.5 intergenic rs775915147 TRY2P AU 0.3593 0.3358 Uncertain 7_142144135_G->A 7 142144135 142144135 G A snp 742.77 0/1 99 64 34 30 0.47 intergenic TRY2P AU Uncertain 7_142144142_T->A 7 142144142 142144142 T A snp 199.77 0/1 99 35 25 10 0.29 intergenic TRY2P AU Uncertain 7_142144143_G->C 7 142144143 142144143 G C snp 211.77 0/1 99 35 25 10 0.29 intergenic TRY2P AU Uncertain 7_142144145_A->T 7 142144145 142144145 A T snp 211.77 0/1 99 34 24 10 0.29 intergenic TRY2P AU Uncertain 7_142144148_C->T 7 142144148 142144148 C T snp 222.77 0/1 99 32 22 10 0.31 intergenic TRY2P AU Uncertain 7_142144156_A->C 7 142144156 142144156 A C snp 237.77 0/1 99 26 16 10 0.38 intergenic TRY2P AU Uncertain 7_142144170_A->C 7 142144170 142144170 A C snp 178.77 0/1 99 14 8 6 0.43 intergenic TRY2P AU Uncertain 7_142148845_A->G 7 142148845 142148845 A G snp 188.77 0/1 99 25 18 7 0.28 intergenic TRY2P AU Uncertain 7_142148846_C->A 7 142148846 142148846 C A snp 185.77 0/1 99 26 19 7 0.27 intergenic TRY2P AU Uncertain 7_142148850_G->A 7 142148850 142148850 G A snp 210.77 0/1 99 33 23 10 0.3 intergenic TRY2P AU Uncertain 7_142148878_T->C 7 142148878 142148878 T C snp 486.77 0/1 99 90 59 31 0.34 intergenic rs370978147 TRY2P AU 0.000199681 0.001 0.4599 0.4835 Uncertain 7_142148881_C->A 7 142148881 142148881 C A snp 532.77 0/1 99 97 62 35 0.36 intergenic rs374566766 TRY2P AU 0.4667 0.4864 Uncertain 7_142148919_C->T 7 142148919 142148919 C T snp 576.77 0/1 99 180 137 43 0.24 intergenic rs376682174 TRY2P AU 0.000399361 0.4611 0.4899 Uncertain 7_142148963_C->T 7 142148963 142148963 C T snp 404.77 0/1 99 250 209 41 0.16 intergenic rs371195527 TRY2P AU 0.3722 0.4452 Uncertain 7_142148969_A->T 7 142148969 142148969 A T snp 317.77 0/1 99 250 214 36 0.14 intergenic rs747286228 TRY2P AU 0.3561 0.4316 Uncertain 7_142148970_A->C 7 142148970 142148970 A C snp 391.77 0/1 99 250 214 36 0.14 intergenic rs776885061 TRY2P AU 0.3562 0.4322 Uncertain 7_142149001_G->A 7 142149001 142149001 G A snp 41.77 0/1 70 250 231 19 0.08 intergenic rs367985593 TRY2P AU 0.1162 0.1737 Uncertain 7_142149349_A->C 7 142149349 142149349 A C snp 1367.77 1/1 99 47 0 47 1.0 intergenic rs140504979 TRY2P AU 0.989217 1 0.992660 0.9947 0.9999 Uncertain 7_142162001_A->C 7 142162001 142162001 A C snp 6879.77 1/1 99 250 0 250 1.0 intergenic TRY2P AU 0.98123 1 0.984567 0.9925 0.9999 Uncertain 7_142162050_A->G 7 142162050 142162050 A G snp 7392.77 1/1 99 249 0 249 1.0 intergenic TRY2P AU 0.290735 0.2083 0.269098 0.3206 0.1937 Uncertain 7_142168348_G->A 7 142168348 142168348 G A snp 276.77 0/1 99 87 74 13 0.15 intergenic rs754649201 TRY2P AU 0.0402 0.0222 Uncertain 7_142168351_T->C 7 142168351 142168351 T C snp 294.77 0/1 99 91 75 16 0.18 intergenic rs772472482 TRY2P AU 0.0400 0.0219 Uncertain 7_142168362_A->T 7 142168362 142168362 A T snp 430.77 0/1 99 114 91 23 0.2 intergenic rs754700754 TRY2P AU 0.1224 0.1531 Uncertain 7_142168365_C->T 7 142168365 142168365 C T snp 418.77 0/1 99 117 94 23 0.2 intergenic rs771385624 TRY2P AU 0.1292 0.1635 Uncertain 7_142168371_C->T 7 142168371 142168371 C T snp 624.77 0/1 99 133 102 31 0.23 intergenic rs534537240 TRY2P AU 0.000399361 0.1959 0.2673 Uncertain 7_142168414_G->C 7 142168414 142168414 G C snp 1569.77 0/1 99 245 169 76 0.31 intergenic rs374005717 TRY2P AU 0.3596 0.4139 Uncertain 7_142168429_A->G 7 142168429 142168429 A G snp 7058.77 1/1 99 250 0 250 1.0 intergenic TRY2P AU 0.993011 1 0.8820 0.9290 Uncertain 7_142168452_C->A 7 142168452 142168452 C A snp 6998.77 1/1 99 250 1 249 1.0 intergenic TRY2P AU 0.961462 1 0.964541 0.9907 0.9999 Uncertain 7_142168466_A->C 7 142168466 142168466 A C snp 1580.77 0/1 99 250 178 72 0.29 intergenic TRY2P AU 0.0538 0.0508 Uncertain 7_142168474_G->A 7 142168474 142168474 G A snp 1560.77 0/1 99 249 178 71 0.29 intergenic rs377511417 TRY2P AU 0.0496 0.0464 Uncertain 7_142168662_C->T 7 142168662 142168662 C T snp 2809.77 1/1 99 107 3 104 0.97 intergenic TRY2P AU 0.961462 1 0.846907 0.9894 0.9989 Uncertain 7_142168663_G->C 7 142168663 142168663 G C snp 3108.77 1/1 99 109 0 109 1.0 intergenic TRY2P AU 0.961462 1 0.920671 0.9903 0.9993 Uncertain 7_142168799_C->T 7 142168799 142168799 C T snp 109.77 0/1 99 84 72 12 0.14 intergenic rs767772044 TRY2P AU 0.0064 0.0074 Uncertain 7_142168803_C->G 7 142168803 142168803 C G snp 109.77 0/1 99 83 71 12 0.14 intergenic rs760864413 TRY2P AU 0.0063 0.0075 Uncertain 7_142168818_C->T 7 142168818 142168818 C T snp 129.77 0/1 99 68 56 12 0.18 intergenic rs751445941 TRY2P AU 0.0106 0.0164 Uncertain 7_142168825_C->A 7 142168825 142168825 C A snp 149.77 0/1 99 59 47 12 0.2 intergenic rs745551989 TRY2P AU 0.0098 0.0153 Uncertain 7_142168835_C->T 7 142168835 142168835 C T snp 146.77 0/1 99 51 39 12 0.24 intergenic rs779730622 TRY2P AU 0.0072 0.0107 Uncertain 7_142168836_A->G 7 142168836 142168836 A G snp 167.77 0/1 99 50 38 12 0.24 intergenic rs374978025 TRY2P AU 0.00419329 0.0084 0.0106 Uncertain 7_142168839_G->T 7 142168839 142168839 G T snp 173.77 0/1 99 47 35 12 0.26 intergenic rs769051792 TRY2P AU 0.0072 0.0109 Uncertain 7_142168856_C->G 7 142168856 142168856 C G snp 772.77 0/1 99 37 12 25 0.68 intergenic TRY2P AU 0.978035 1 0.9250 0.9094 Uncertain 7_142168862_A->G 7 142168862 142168862 A G snp 200.77 0/1 99 35 23 12 0.34 intergenic rs759726448 TRY2P AU 0.0474 0.0674 Uncertain 7_142168890_C->T 7 142168890 142168890 C T snp 137.77 0/1 99 17 11 6 0.35 intergenic rs767448033 TRY2P AU 0.0874 0.0974 Uncertain 7_142176306_G->A 7 142176306 142176306 G A snp 1254.77 0/1 99 97 45 52 0.54 intergenic TRY2P AU 0.0109824 0.0496 0.0042 0.0367 Uncertain 7_142176378_A->G 7 142176378 142176378 A G snp 6949.77 1/1 99 250 0 250 1.0 intergenic TRY2P AU 0.978035 1 0.980196 0.9946 0.9999 Uncertain 7_142180498_G->A 7 142180498 142180498 G A snp 34.77 0/1 63 148 130 18 0.12 intergenic rs763441334 TRY2P AU 0.0046 0.0017 Uncertain 7_142180502_T->G 7 142180502 142180502 T G snp 31.77 0/1 60 155 136 19 0.12 intergenic rs774682588 TRY2P AU 0.0045 0.0017 Uncertain 7_142180509_G->A 7 142180509 142180509 G A snp 39.77 0/1 68 174 155 19 0.11 intergenic TRY2P AU 0.0046 0.0017 Uncertain 7_142180618_T->C 7 142180618 142180618 T C snp 1268.77 0/1 99 249 175 74 0.3 intergenic rs754591602 TRY2P AU 0.4828 0.4836 Uncertain 7_142180619_G->A 7 142180619 142180619 G A snp 1263.77 0/1 99 249 175 74 0.3 intergenic rs769425688 TRY2P AU 0.4826 0.4837 Uncertain 7_142180625_T->C 7 142180625 142180625 T C snp 1196.77 0/1 99 248 177 71 0.29 intergenic rs747786541 TRY2P AU 0.4823 0.4835 Uncertain 7_142180633_G->T 7 142180633 142180633 G T snp 1128.77 0/1 99 249 183 66 0.27 intergenic rs755514433 TRY2P AU 0.4815 0.4828 Uncertain 7_142180635_T->G 7 142180635 142180635 T G snp 1131.77 0/1 99 249 182 67 0.27 intergenic rs779464213 TRY2P AU 0.4819 0.4831 Uncertain 7_142180640_G->T 7 142180640 142180640 G T snp 1102.77 0/1 99 249 185 64 0.26 intergenic rs748644717 TRY2P AU 0.4812 0.4827 Uncertain 7_142180641_A->G 7 142180641 142180641 A G snp 1152.77 0/1 99 249 185 64 0.26 intergenic rs772478373 TRY2P AU 0.4819 0.4828 Uncertain 7_142180646_A->C 7 142180646 142180646 A C snp 1099.77 0/1 99 248 186 62 0.25 intergenic rs762331485 TRY2P AU 0.4836 0.4829 Uncertain 7_142180647_G->T 7 142180647 142180647 G T snp 1123.77 0/1 99 248 185 63 0.25 intergenic rs772532241 TRY2P AU 0.4843 0.4834 Uncertain 7_142180704_G->T 7 142180704 142180704 G T snp 2615.77 0/1 99 250 148 102 0.41 intergenic rs368420989 TRY2P AU 0.4993 0.5 Uncertain 7_142180737_T->A 7 142180737 142180737 T A snp 1984.77 0/1 99 250 167 83 0.33 intergenic rs372013265 TRY2P AU 0.4956 0.5 Uncertain 7_142180770_T->C 7 142180770 142180770 T C snp 1070.77 0/1 99 248 195 53 0.21 intergenic rs375278683 TRY2P AU 0.4985 0.4999 Uncertain 7_142180897_C->G 7 142180897 142180897 C G snp 1702.77 0/1 99 193 117 76 0.39 intergenic rs361424 TRY2P AU 0.13778 0.0516 0.141607 0.0970 0.0386 Uncertain 7_142181034_-->CCT 7 142181034 142181034 - CCT indel 506.73 0/1 99 26 15 11 0.42 intergenic rs143843986 TRY2P AU 0.129193 0.0437 Uncertain 7_142197606_T->C 7 142197606 142197606 T C snp 572.77 0/1 99 64 38 26 0.41 intergenic rs373222208 TRY2P AU 0.4814 0.4982 Uncertain 7_142197613_T->C 7 142197613 142197613 T C snp 556.77 0/1 99 69 42 27 0.39 intergenic rs376535639 TRY2P AU 0.4754 0.4980 Uncertain 7_142197620_C->T 7 142197620 142197620 C T snp 565.77 0/1 99 70 48 22 0.31 intergenic TRY2P AU 0.286142 0.2669 0.194522 0.2324 0.2138 Uncertain 7_142197773_A->G 7 142197773 142197773 A G snp 35.77 0/1 64 184 169 15 0.08 intergenic TRY2P AU Uncertain 7_142197782_T->A 7 142197782 142197782 T A snp 118.77 0/1 99 193 172 21 0.11 intergenic rs377242129 TRY2P AU 0.2577 0.2288 Uncertain 7_142197807_C->G 7 142197807 142197807 C G snp 184.77 0/1 99 182 160 22 0.12 intergenic rs369644106 TRY2P AU 0.1272 0.1108 Uncertain 7_142197808_T->G 7 142197808 142197808 T G snp 155.77 0/1 99 178 157 21 0.12 intergenic rs371965058 TRY2P AU 0.1270 0.1110 Uncertain 7_142197812_C->T 7 142197812 142197812 C T snp 184.77 0/1 99 179 157 22 0.12 intergenic rs199835258 TRY2P AU 0.1193 0.1037 Uncertain 7_142197813_C->T 7 142197813 142197813 C T snp 176.77 0/1 99 179 156 23 0.13 intergenic rs369221441 TRY2P AU 0.1194 0.1039 Uncertain 7_142197835_C->T 7 142197835 142197835 C T snp 5165.77 1/1 99 191 0 191 1.0 intergenic rs17280 TRY2P AU 0.977835 1 0.978404 0.9944 1 Uncertain 7_142197845_G->A 7 142197845 142197845 G A snp 179.77 0/1 99 195 173 22 0.11 intergenic rs372935433 TRY2P AU 0.0072 0.0041 Uncertain 7_142197846_G->A 7 142197846 142197846 G A snp 143.77 0/1 99 194 173 21 0.11 intergenic rs375613822 TRY2P AU 0.0072 0.0041 Uncertain 7_142197848_A->C 7 142197848 142197848 A C snp 140.77 0/1 99 195 175 20 0.1 intergenic rs368955078 TRY2P AU 0.0072 0.0041 Uncertain 7_142197861_G->A 7 142197861 142197861 G A snp 135.77 0/1 99 189 170 19 0.1 intergenic rs373311950 TRY2P AU 0.0012 0.0004 Uncertain 7_142197962_G->T 7 142197962 142197962 G T snp 174.77 0/1 99 117 100 17 0.15 intergenic rs764375904 TRY2P AU 0 0 Uncertain 7_142197964_T->C 7 142197964 142197964 T C snp 177.77 0/1 99 117 101 16 0.14 intergenic TRY2P AU Uncertain 7_142197965_C->A 7 142197965 142197965 C A snp 178.77 0/1 99 116 98 18 0.16 intergenic TRY2P AU Uncertain 7_142197978_G->A 7 142197978 142197978 G A snp 218.77 0/1 99 96 79 17 0.18 intergenic TRY2P AU Uncertain 7_142197983_G->A 7 142197983 142197983 G A snp 217.77 0/1 99 90 73 17 0.19 intergenic rs369385273 TRY2P AU 0.000494 0.0002 0 Uncertain 7_142197986_T->C 7 142197986 142197986 T C snp 2539.77 1/1 99 88 0 88 1.0 intergenic rs148941368 TRY2P AU 0.977835 1 0.978111 0.9943 1 Uncertain 7_142198003_G->A 7 142198003 142198003 G A snp 210.77 0/1 99 69 53 16 0.23 intergenic rs377018956 TRY2P AU Uncertain 7_142198022_A->C 7 142198022 142198022 A C snp 226.77 0/1 99 46 31 15 0.33 intergenic rs764723593 TRY2P AU 1.783e-05 0 Uncertain 7_142198030_G->A 7 142198030 142198030 G A snp 254.77 0/1 99 36 23 13 0.36 intergenic rs774718117 TRY2P AU 5.379e-05 0 Uncertain 7_142198040_C->A 7 142198040 142198040 C A snp 160.77 0/1 99 27 19 8 0.3 intergenic rs756364829 TRY2P AU 9.043e-06 0 Uncertain 7_142198041_A->G 7 142198041 142198041 A G snp 127.77 0/1 99 26 19 7 0.27 intergenic rs766570290 TRY2P AU 9.037e-06 0 Uncertain 7_142206460_T->C 7 142206460 142206460 T C snp 414.77 0/1 99 81 62 19 0.23 intergenic TRY2P AU Uncertain 7_142206472_C->T 7 142206472 142206472 C T snp 430.77 0/1 99 98 77 21 0.21 intergenic rs780912270 TRY2P AU 1.819e-05 0 Uncertain 7_142206473_G->A 7 142206473 142206473 G A snp 797.77 0/1 99 100 61 39 0.39 intergenic TRY2P AU 0.219449 0.1994 0.347063 0.3671 0.1819 Uncertain 7_142206477_C->A 7 142206477 142206477 C A snp 425.77 0/1 99 105 81 24 0.23 intergenic rs774995841 TRY2P AU 8.968e-06 0 Uncertain 7_142206497_T->C 7 142206497 142206497 T C snp 378.77 0/1 99 145 115 30 0.21 intergenic TRY2P AU Uncertain 7_142206498_G->A 7 142206498 142206498 G A snp 372.77 0/1 99 147 115 32 0.22 intergenic rs375845047 TRY2P AU 0.00239617 0.001981 0.0005 0 Uncertain 7_142206520_C->A 7 142206520 142206520 C A snp 333.77 0/1 99 178 146 32 0.18 intergenic TRY2P AU Uncertain 7_142206525_G->A 7 142206525 142206525 G A snp 324.77 0/1 99 185 154 31 0.17 intergenic rs528834192 TRY2P AU 0.000199681 8.57e-05 0 Uncertain 7_142206531_A->G 7 142206531 142206531 A G snp 317.77 0/1 99 188 157 31 0.16 intergenic TRY2P AU Uncertain 7_142206551_G->T 7 142206551 142206551 G T snp 269.77 0/1 99 204 177 27 0.13 intergenic rs368753108 TRY2P AU 1.692e-05 0 Uncertain 7_142206558_T->G 7 142206558 142206558 T G snp 237.77 0/1 99 202 175 27 0.13 intergenic rs369604667 TRY2P AU 8.45e-06 0 Uncertain 7_142206574_G->A 7 142206574 142206574 G A snp 197.77 0/1 99 201 177 24 0.12 intergenic rs750331677 TRY2P AU 8.443e-06 0 Uncertain 7_142206581_T->C 7 142206581 142206581 T C snp 182.77 0/1 99 208 183 25 0.12 intergenic rs753559817 TRY2P AU 8.443e-06 0 Uncertain 7_142206591_G->T 7 142206591 142206591 G T snp 182.77 0/1 99 205 183 22 0.11 intergenic TRY2P AU Uncertain 7_142206597_G->A 7 142206597 142206597 G A snp 172.77 0/1 99 198 179 19 0.1 intergenic TRY2P AU Uncertain 7_142206604_A->C 7 142206604 142206604 A C snp 31.77 0/1 60 191 176 15 0.08 intergenic TRY2P AU Uncertain 7_142206605_C->T 7 142206605 142206605 C T snp 71.77 0/1 99 189 174 15 0.08 intergenic TRY2P AU Uncertain 7_142206606_A->G 7 142206606 142206606 A G snp 2293.77 0/1 99 189 92 97 0.51 intergenic TRY2P AU 0.108626 0.0248 0.115268 0.1462 0.0264 Uncertain 7_142206615_G->T 7 142206615 142206615 G T snp 58.77 0/1 87 197 180 17 0.09 intergenic TRY2P AU Uncertain 7_142206764_T->C 7 142206764 142206764 T C snp 108.77 0/1 99 70 60 10 0.14 intergenic TRY2P AU Uncertain 7_142206770_A->G 7 142206770 142206770 A G snp 121.77 0/1 99 66 55 11 0.17 intergenic rs553824130 TRY2P AU 3.377e-05 0.0002 Uncertain 7_142206799_C->A 7 142206799 142206799 C A snp 176.77 0/1 99 64 51 13 0.2 intergenic rs758081292 TRY2P AU 2.535e-05 0 Uncertain 7_142206816_G->A 7 142206816 142206816 G A snp 144.77 0/1 99 61 49 12 0.2 intergenic rs377715714 TRY2P AU 2.536e-05 0 Uncertain 7_142206827_A->C 7 142206827 142206827 A C snp 127.77 0/1 99 67 55 12 0.18 intergenic TRY2P AU Uncertain 7_142206834_C->T 7 142206834 142206834 C T snp 113.77 0/1 99 66 56 10 0.15 intergenic TRY2P AU Uncertain 7_142206838_C->A 7 142206838 142206838 C A snp 119.77 0/1 99 65 55 10 0.15 intergenic TRY2P AU Uncertain 7_142206846_C->G 7 142206846 142206846 C G snp 77.77 0/1 99 63 55 8 0.13 intergenic TRY2P AU Uncertain 7_142206848_G->A 7 142206848 142206848 G A snp 75.77 0/1 99 65 57 8 0.12 intergenic TRY2P AU Uncertain 7_142206852_A->G 7 142206852 142206852 A G snp 83.77 0/1 99 66 58 8 0.12 intergenic TRY2P AU Uncertain 7_142206853_G->A 7 142206853 142206853 G A snp 80.77 0/1 99 66 58 8 0.12 intergenic TRY2P AU Uncertain 7_142206858_C->T 7 142206858 142206858 C T snp 87.77 0/1 99 67 58 9 0.13 intergenic TRY2P AU Uncertain 7_142206865_T->G 7 142206865 142206865 T G snp 90.77 0/1 99 68 60 8 0.12 intergenic TRY2P AU Uncertain 7_142206878_C->T 7 142206878 142206878 C T snp 90.77 0/1 99 67 59 8 0.12 intergenic TRY2P AU Uncertain 7_142206888_G->A 7 142206888 142206888 G A snp 84.77 0/1 99 66 58 8 0.12 intergenic rs376828042 TRY2P AU Uncertain 7_142206893_T->A 7 142206893 142206893 T A snp 87.77 0/1 99 67 59 8 0.12 intergenic TRY2P AU Uncertain 7_142211193_C->T 7 142211193 142211193 C T snp 509.77 0/1 99 42 21 21 0.5 intergenic TRY2P AU 0.221246 0.1984 Uncertain 7_142223797_C->G 7 142223797 142223797 C G snp 66.77 0/1 95 14 9 5 0.36 intergenic TRY2P AU 0.800719 0.9058 0.805478 0.8369 0.8902 Uncertain 7_142223942_A->G 7 142223942 142223942 A G snp 424.77 0/1 99 150 121 29 0.19 intergenic rs368751965 TRY2P AU 0.2254 0.2251 Uncertain 7_142223949_A->G 7 142223949 142223949 A G snp 386.77 0/1 99 147 120 27 0.18 intergenic rs776089634 TRY2P AU 8.281e-05 0 Uncertain 7_142223951_A->T 7 142223951 142223951 A T snp 383.77 0/1 99 147 118 29 0.2 intergenic TRY2P AU Uncertain 7_142223952_C->T 7 142223952 142223952 C T snp 383.77 0/1 99 147 121 26 0.18 intergenic rs774802249 TRY2P AU 6.139e-05 0 Uncertain 7_142223953_T->C 7 142223953 142223953 T C snp 379.77 0/1 99 147 121 26 0.18 intergenic TRY2P AU Uncertain 7_142223959_C->T 7 142223959 142223959 C T snp 378.77 0/1 99 148 122 26 0.18 intergenic rs750644714 TRY2P AU 0.2121 0.2030 Uncertain 7_142223962_G->C 7 142223962 142223962 G C snp 384.77 0/1 99 150 124 26 0.17 intergenic rs760859562 TRY2P AU 0.2229 0.2200 Uncertain 7_142223964_A->T 7 142223964 142223964 A T snp 378.77 0/1 99 152 126 26 0.17 intergenic rs752708817 TRY2P AU 0.2113 0.2007 Uncertain 7_142223967_T->C 7 142223967 142223967 T C snp 383.77 0/1 99 151 125 26 0.17 intergenic TRY2P AU 0.0886581 0.2650 0.2050 Uncertain 7_142223971_C->T 7 142223971 142223971 C T snp 374.77 0/1 99 157 130 27 0.17 intergenic rs777557861 TRY2P AU 0.2176 0.2078 Uncertain 7_142223995_G->A 7 142223995 142223995 G A snp 422.77 0/1 99 187 149 38 0.2 intergenic rs745464472 TRY2P AU 0.2011 0.1866 Uncertain 7_142223997_A->T 7 142223997 142223997 A T snp 375.77 0/1 99 185 147 38 0.21 intergenic rs769380482 TRY2P AU 0.2020 0.1897 Uncertain 7_142224003_C->A 7 142224003 142224003 C A snp 320.77 0/1 99 182 147 35 0.19 intergenic rs201978710 TRY2P AU 0.1506 0.0993 Uncertain 7_142224021_G->T 7 142224021 142224021 G T snp 317.77 0/1 99 192 158 34 0.18 intergenic TRY2P AU Uncertain 7_142224022_C->T 7 142224022 142224022 C T snp 272.77 0/1 99 192 158 34 0.18 intergenic TRY2P AU Uncertain 7_142224023_A->G 7 142224023 142224023 A G snp 316.77 0/1 99 192 158 34 0.18 intergenic TRY2P AU Uncertain 7_142224040_C->T 7 142224040 142224040 C T snp 244.77 0/1 99 177 146 31 0.18 intergenic rs753801873 TRY2P AU 0.1005 0.0843 Uncertain 7_142224041_A->G 7 142224041 142224041 A G snp 291.77 0/1 99 175 144 31 0.18 intergenic rs759644937 TRY2P AU 0.1018 0.0865 Uncertain 7_142224058_C->G 7 142224058 142224058 C G snp 61.77 0/1 90 163 145 18 0.11 intergenic rs559676967 TRY2P AU 0.000199681 0.0425 0.0333 Uncertain 7_142224062_G->T 7 142224062 142224062 G T snp 31.77 0/1 60 163 146 17 0.1 intergenic rs750097435 TRY2P AU 0.0370 0.0288 Uncertain 7_142224063_C->T 7 142224063 142224063 C T snp 73.77 0/1 99 164 147 17 0.1 intergenic rs755668103 TRY2P AU 0.0368 0.0287 Uncertain 7_142224072_G->A 7 142224072 142224072 G A snp 68.77 0/1 97 164 146 18 0.11 intergenic rs779747583 TRY2P AU 0.0302 0.0229 Uncertain 7_142231582_C->A 7 142231582 142231582 C A snp 225.77 0/1 99 88 71 17 0.19 intergenic rs769684838 TRY2P AU 9.421e-05 0 Uncertain 7_142231587_G->A 7 142231587 142231587 G A snp 252.77 0/1 99 95 76 19 0.2 intergenic rs759934161 TRY2P AU 0.0001 0 Uncertain 7_142231593_A->G 7 142231593 142231593 A G snp 287.77 0/1 99 100 80 20 0.2 intergenic rs750908693 TRY2P AU 9.344e-05 0 Uncertain 7_142231596_T->C 7 142231596 142231596 T C snp 328.77 0/1 99 101 80 21 0.21 intergenic rs780358293 TRY2P AU 9.337e-05 0 Uncertain 7_142231612_G->C 7 142231612 142231612 G C snp 363.77 0/1 99 119 95 24 0.2 intergenic rs755168274 TRY2P AU 3.382e-05 0 Uncertain 7_142231613_A->T 7 142231613 142231613 A T snp 369.77 0/1 99 118 93 25 0.21 intergenic rs778988466 TRY2P AU 3.382e-05 0 Uncertain 7_142231616_C->T 7 142231616 142231616 C T snp 365.77 0/1 99 119 95 24 0.2 intergenic rs748325550 TRY2P AU 3.381e-05 0 Uncertain 7_142231620_A->G 7 142231620 142231620 A G snp 359.77 0/1 99 120 96 24 0.2 intergenic rs772013867 TRY2P AU 3.379e-05 0 Uncertain 7_142231625_C->A 7 142231625 142231625 C A snp 1039.77 0/1 99 135 87 48 0.36 intergenic TRY2P AU 0.248602 0.2004 0.381968 0.3736 0.1854 Uncertain 7_142231636_G->A 7 142231636 142231636 G A snp 551.77 0/1 99 141 107 34 0.24 intergenic rs769740579 TRY2P AU 0.0001 0 Uncertain 7_142231640_G->A 7 142231640 142231640 G A snp 535.77 0/1 99 147 113 34 0.23 intergenic rs768425769 TRY2P AU 0.0001 0 Uncertain 7_142231641_G->A 7 142231641 142231641 G A snp 539.77 0/1 99 149 114 35 0.23 intergenic rs773848119 TRY2P AU 0.0001 0 Uncertain 7_142231650_G->C 7 142231650 142231650 G C snp 712.77 0/1 99 154 112 42 0.27 intergenic rs761439107 TRY2P AU 0.0001 0 Uncertain 7_142231668_G->A 7 142231668 142231668 G A snp 829.77 0/1 99 163 117 46 0.28 intergenic rs375998150 TRY2P AU 0.000240 3.377e-05 0 Uncertain 7_142231694_T->C 7 142231694 142231694 T C snp 915.77 0/1 99 173 127 46 0.27 intergenic rs752840856 TRY2P AU 8.441e-06 0 Uncertain 7_142231698_G->A 7 142231698 142231698 G A snp 895.77 0/1 99 173 128 45 0.26 intergenic TRY2P AU Uncertain 7_142231701_G->T 7 142231701 142231701 G T snp 914.77 0/1 99 172 126 46 0.27 intergenic TRY2P AU 0.586062 0.7054 0.442589 0.4704 0.7036 Uncertain 7_142231703_G->T 7 142231703 142231703 G T snp 954.77 0/1 99 172 125 47 0.27 intergenic TRY2P AU Uncertain 7_142231740_T->C 7 142231740 142231740 T C snp 983.77 0/1 99 142 98 44 0.31 intergenic rs372096379 TRY2P AU 0.0007 0 Uncertain 7_142231744_A->G 7 142231744 142231744 A G snp 949.77 0/1 99 140 96 44 0.31 intergenic rs376782927 TRY2P AU 0.0007 0 Uncertain 7_142231762_A->T 7 142231762 142231762 A T snp 791.77 0/1 99 116 81 35 0.3 intergenic rs758624335 TRY2P AU 8.441e-06 0 Uncertain 7_142231769_T->A 7 142231769 142231769 T A snp 147.77 0/1 99 92 82 10 0.11 intergenic TRY2P AU Uncertain 7_142231771_T->C 7 142231771 142231771 T C snp 150.77 0/1 99 90 80 10 0.11 intergenic TRY2P AU Uncertain 7_142231772_T->G 7 142231772 142231772 T G snp 148.77 0/1 99 90 80 10 0.11 intergenic TRY2P AU Uncertain 7_142231780_C->T 7 142231780 142231780 C T snp 99.77 0/1 99 83 75 8 0.1 intergenic TRY2P AU Uncertain 7_142231781_A->C 7 142231781 142231781 A C snp 91.77 0/1 99 82 74 8 0.1 intergenic TRY2P AU Uncertain 7_142231788_G->A 7 142231788 142231788 G A snp 33.77 0/1 62 75 67 8 0.11 intergenic TRY2P AU Uncertain 7_142231794_C->T 7 142231794 142231794 C T snp 100.77 0/1 99 70 62 8 0.11 intergenic rs757384002 TRY2P AU 5.064e-05 0 Uncertain 7_142231795_G->C 7 142231795 142231795 G C snp 82.77 0/1 99 70 62 8 0.11 intergenic TRY2P AU Uncertain 7_142231799_A->G 7 142231799 142231799 A G snp 79.77 0/1 99 69 61 8 0.12 intergenic TRY2P AU Uncertain 7_142231806_C->T 7 142231806 142231806 C T snp 106.77 0/1 99 67 59 8 0.12 intergenic TRY2P AU Uncertain 7_142231807_T->G 7 142231807 142231807 T G snp 103.77 0/1 99 66 55 11 0.17 intergenic TRY2P AU Uncertain 7_142231809_C->T 7 142231809 142231809 C T snp 80.77 0/1 99 62 54 8 0.13 intergenic TRY2P AU Uncertain 7_142231810_C->G 7 142231810 142231810 C G snp 113.77 0/1 99 61 53 8 0.13 intergenic TRY2P AU Uncertain 7_142231826_T->C 7 142231826 142231826 T C snp 131.77 0/1 99 53 44 9 0.17 intergenic TRY2P AU 3.378e-05 0 Uncertain 7_142231852_T->C 7 142231852 142231852 T C snp 95.77 0/1 99 43 37 6 0.14 intergenic rs770404766 TRY2P AU 0.0001 0 Uncertain 7_142232163_T->C 7 142232163 142232163 T C snp 62.74 1/1 6 4 0 4 1.0 intergenic rs144354683 TRY2P AU 0.984026 1 Uncertain 7_142239679_C->G 7 142239679 142239679 C G snp 1209.77 0/1 99 104 53 51 0.49 intergenic TRY2P AU 0.353435 0.0516 0.190350 0.1660 0.0258 Uncertain 7_142239946_T->C 7 142239946 142239946 T C snp 212.77 0/1 99 20 12 8 0.4 intergenic TRY2P AU 0.157548 0.0238 0.190402 0.1678 0.0257 Uncertain 7_142242197_T->A 7 142242197 142242197 T A snp 274.77 0/1 99 25 16 9 0.36 intergenic TRY2P AU 0.209465 0.0238 Uncertain 7_142242352_C->T 7 142242352 142242352 C T snp 1954.77 0/1 99 183 97 86 0.47 intergenic TRY2P AU 0.115415 0.0238 0.1600 0.0263 Uncertain 7_142242511_A->G 7 142242511 142242511 A G snp 95.77 0/1 99 92 76 16 0.17 intergenic rs776441251 TRY2P AU 0.1836 0.2823 Uncertain 7_142242552_G->T 7 142242552 142242552 G T snp 172.77 0/1 99 121 94 27 0.22 intergenic rs756753120 TRY2P AU 0.3173 0.3641 Uncertain 7_142242578_T->C 7 142242578 142242578 T C snp 159.77 0/1 99 140 113 27 0.19 intergenic rs779037578 TRY2P AU 0.3203 0.3692 Uncertain 7_142242579_G->A 7 142242579 142242579 G A snp 153.77 0/1 99 141 114 27 0.19 intergenic rs748337645 TRY2P AU 0.3159 0.3630 Uncertain 7_142242603_A->T 7 142242603 142242603 A T snp 91.77 0/1 99 156 130 26 0.17 intergenic rs760735453 TRY2P AU 0.0002 0 Uncertain 7_142242607_C->G 7 142242607 142242607 C G snp 46.77 0/1 75 156 134 22 0.14 intergenic rs762758399 TRY2P AU 0.0002 0 Uncertain 7_142242670_T->G 7 142242670 142242670 T G snp 4133.77 1/1 99 158 1 157 0.99 intergenic TRY2P AU 0.969649 0.9315 0.9896 0.9135 Uncertain 7_142247125_A->G 7 142247125 142247125 A G snp 1170.77 0/1 99 97 53 44 0.45 intergenic TRY2P AU 0.209465 0.0238 0.281572 0.2437 0.0254 Uncertain 7_142247133_A->G 7 142247133 142247133 A G snp 1236.77 0/1 99 103 58 45 0.44 intergenic TRY2P AU 0.117612 0.0238 0.137179 0.1546 0.0254 Uncertain 7_142247134_T->C 7 142247134 142247134 T C snp 3270.77 1/1 99 104 0 104 1.0 intergenic TRY2P AU 0.969449 0.9315 0.985213 0.9891 0.9133 Uncertain 7_142247148_C->T 7 142247148 142247148 C T snp 1490.77 0/1 99 131 73 58 0.44 intergenic TRY2P AU 0.209465 0.0238 0.279588 0.2436 0.0257 Uncertain 7_142247213_G->T 7 142247213 142247213 G T snp 2030.77 0/1 99 202 109 93 0.46 intergenic TRY2P AU 0.209465 0.0238 0.282157 0.2478 0.0262 Uncertain 7_142247263_G->A 7 142247263 142247263 G A snp 1178.77 0/1 99 249 173 76 0.31 intergenic rs748873746 TRY2P AU 0.0137 0.0048 Uncertain 7_142247270_T->C 7 142247270 142247270 T C snp 1322.77 0/1 99 247 167 80 0.32 intergenic rs375846702 TRY2P AU 0.0150 0.0051 Uncertain 7_142247271_G->A 7 142247271 142247271 G A snp 1331.77 0/1 99 248 168 80 0.32 intergenic rs747655381 TRY2P AU 0.0153 0.0052 Uncertain 7_142247288_T->C 7 142247288 142247288 T C snp 1601.77 0/1 99 250 157 93 0.37 intergenic rs747359729 TRY2P AU 0.0818 0.0343 Uncertain 7_142247347_A->C 7 142247347 142247347 A C snp 4012.77 0/1 99 226 61 165 0.73 intergenic TRY2P AU 0.209465 0.0238 0.5316 0.4978 Uncertain 7_142247348_T->C 7 142247348 142247348 T C snp 1849.77 0/1 99 224 132 92 0.41 intergenic rs371674308 TRY2P AU 0.4946 0.4971 Uncertain 7_142247380_T->A 7 142247380 142247380 T A snp 1453.77 0/1 99 185 117 68 0.37 intergenic rs374995027 TRY2P AU 0.1777 0.1853 Uncertain 7_142247396_A->T 7 142247396 142247396 A T snp 1112.77 0/1 99 157 108 49 0.31 intergenic rs775832729 TRY2P AU 0.0775 0.0746 Uncertain 7_142247410_C->T 7 142247410 142247410 C T snp 862.77 0/1 99 125 89 36 0.29 intergenic rs56172210 TRY2P AU 0.000199681 0.0687 0.0638 Uncertain 7_142247418_C->- 7 142247418 142247418 C - indel 970.73 0/1 99 118 88 30 0.25 intergenic rs370449003 TRY2P AU 0.0591 0.0520 Uncertain 7_142247425_A->G 7 142247425 142247425 A G snp 642.77 0/1 99 106 79 27 0.25 intergenic rs759300811 TRY2P AU 0.0575 0.0495 Uncertain 7_142247432_G->A 7 142247432 142247432 G A snp 567.77 0/1 99 95 72 23 0.24 intergenic rs764887524 TRY2P AU 0.0509 0.0415 Uncertain 7_142247455_-->CACACA 7 142247455 142247455 - CACACA indel 2072.73 0/1 99 65 20 45 0.69 intergenic TRY2P AU Uncertain 7_142247474_T->C 7 142247474 142247474 T C snp 98.77 0/1 99 64 53 11 0.17 intergenic TRY2P AU 0.0004 0.0001 Uncertain 7_142247486_G->C 7 142247486 142247486 G C snp 309.77 0/1 99 57 42 15 0.26 intergenic rs774555849 TRY2P AU 9.065e-05 0.0001 Uncertain 7_142247494_C->T 7 142247494 142247494 C T snp 113.77 0/1 99 58 41 17 0.29 intergenic rs759353688 TRY2P AU 7.962e-05 0 Uncertain 7_142247497_G->C 7 142247497 142247497 G C snp 122.77 0/1 99 56 48 8 0.14 intergenic rs762728201 TRY2P AU 7.704e-05 0 Uncertain 7_142247530_G->A 7 142247530 142247530 G A snp 826.77 0/1 99 65 28 37 0.57 intergenic rs749610779 TRY2P AU 0.0091 0.0062 Uncertain 7_142247533_C->G 7 142247533 142247533 C G snp 189.77 0/1 99 64 49 15 0.23 intergenic TRY2P AU Uncertain 7_142247535_G->A 7 142247535 142247535 G A snp 189.77 0/1 99 64 50 14 0.22 intergenic TRY2P AU Uncertain 7_142247539_T->C 7 142247539 142247539 T C snp 802.77 0/1 99 64 27 37 0.58 intergenic rs778978129 TRY2P AU 0.0140 0.0075 Uncertain 7_142247540_G->A 7 142247540 142247540 G A snp 781.77 0/1 99 62 26 36 0.58 intergenic rs748246110 TRY2P AU 0.0140 0.0075 Uncertain 7_142247541_C->T 7 142247541 142247541 C T snp 413.77 0/1 99 61 39 22 0.36 intergenic TRY2P AU Uncertain 7_142247546_C->A 7 142247546 142247546 C A snp 191.77 0/1 99 59 45 14 0.24 intergenic rs575564328 TRY2P AU 0.000199681 0.001 0.0134 0.0084 Uncertain 7_142247554_C->G 7 142247554 142247554 C G snp 422.77 0/1 99 58 36 22 0.38 intergenic TRY2P AU 0.091853 0.125721 0.0958 0.0078 Uncertain 7_142247567_A->G 7 142247567 142247567 A G snp 770.77 0/1 99 50 17 33 0.66 intergenic rs372792593 TRY2P AU 0.0819 0.0576 Uncertain 7_142247571_A->G 7 142247571 142247571 A G snp 772.77 0/1 99 50 17 33 0.66 intergenic rs376050671 TRY2P AU 0.1075 0.0859 Uncertain 7_142247605_G->A 7 142247605 142247605 G A snp 197.77 0/1 99 40 29 11 0.28 intergenic rs370122363 TRY2P AU 0.0573 0.0526 Uncertain 7_142247629_G->T 7 142247629 142247629 G T snp 268.77 0/1 99 22 11 11 0.5 intergenic rs772717296 TRY2P AU Uncertain 7_142250938_T->G 7 142250938 142250938 T G snp 1877.77 0/1 99 137 71 66 0.48 intergenic TRY2P AU 0.8748 0.9762 0.841982 0.8422 0.9746 Uncertain 7_142250988_G->A 7 142250988 142250988 G A snp 1552.77 0/1 99 130 66 64 0.49 intergenic TRY2P AU 0.8748 0.9762 0.840883 0.8421 0.9746 Uncertain 7_142251132_G->T 7 142251132 142251132 G T snp 752.77 0/1 99 67 37 30 0.45 intergenic TRY2P AU 0.8748 0.9762 0.841605 0.8421 0.9746 Uncertain 7_142326607_C->T 7 142326607 142326607 C T snp 1214.77 0/1 99 93 42 51 0.55 intergenic TRY2P AU 0.425919 0.6796 0.426664 0.4969 0.6953 Uncertain 7_142326909_C->G 7 142326909 142326909 C G snp 3759.77 1/1 99 125 1 124 0.99 intergenic rs76454382 TRY2P AU 0.98123 1 0.983394 0.9950 1 Uncertain 7_142334648_A->T 7 142334648 142334648 A T snp 518.77 0/1 99 41 23 18 0.44 intergenic TRY2P AU 0.427117 0.6825 0.423498 0.4972 0.6985 Uncertain 7_142353577_-->TTTGTTTTGT 7 142353577 142353577 - TTTGTTTTGT indel 5269.73 ./1 99 202 1 201 1.0 intergenic TRY2P AU Uncertain 7_142353577_-->TTTGT 7 142353577 142353577 - TTTGT indel 5269.73 ./1 99 202 1 201 1.0 intergenic rs71166602 TRY2P AU Uncertain 7_142364553_G->A 7 142364553 142364553 G A snp 1158.77 0/1 99 74 34 40 0.54 intergenic TRY2P AU 0.218051 0.0595 0.312375 0.3025 0.0519 Uncertain 7_142378633_G->A 7 142378633 142378633 G A snp 1244.77 0/1 99 106 55 51 0.48 intergenic MTRNR2L6 AU 0.483027 0.6687 0.442600 0.6211 0.7217 Uncertain 7_142378708_T->G 7 142378708 142378708 T G snp 2773.77 0/1 99 219 103 116 0.53 intergenic MTRNR2L6 AU 0.448682 0.3274 0.476871 Uncertain 7_142378831_C->G 7 142378831 142378831 C G snp 7211.77 1/1 99 250 0 250 1.0 intergenic rs76429157 MTRNR2L6 AU 0.983724 0.9951 1 Uncertain 7_142379096_T->C 7 142379096 142379096 T C snp 679.77 1/1 54 21 0 21 1.0 intergenic rs115675145 MTRNR2L6 AU 0.979633 1 0.982330 0.9946 1 Uncertain 7_142423161_A->G 7 142423161 142423161 A G snp 682.77 1/1 51 20 0 20 1.0 intergenic MTRNR2L6 AU 0.974241 1 0.977661 Uncertain 7_142423562_C->T 7 142423562 142423562 C T snp 2112.77 1/1 99 74 0 74 1.0 intergenic MTRNR2L6 AU 0.974441 1 0.977574 0.9933 1 Uncertain 7_142428611_C->T 7 142428611 142428611 C T snp 3890.77 1/1 99 138 0 138 1.0 intergenic MTRNR2L6 AU 0.937899 1 0.936706 Uncertain 7_142428626_A->C 7 142428626 142428626 A C snp 4159.77 1/1 99 157 0 157 1.0 intergenic MTRNR2L6 AU 0.937899 1 0.936706 Uncertain 7_142429001_C->T 7 142429001 142429001 C T snp 178.77 0/1 99 20 12 8 0.4 intergenic MTRNR2L6 AU 0.498403 0.7024 0.440045 0.5632 0.7156 Uncertain 7_142458228_G->A 7 142458228 142458228 G A snp 41.77 0/1 31 3 1 2 0.67 intronic PRSS1 AR,AD NM_002769 exon2 c.1070-177G>A 0.00499201 0.001 Uncertain 7_142458250_G->T 7 142458250 142458250 G T snp 69.77 0/1 98 7 4 3 0.43 intronic PRSS1 AR,AD NM_002769 exon2 c.1070-155G>T 0.000199681 0.001 Uncertain 7_142458251_G->C 7 142458251 142458251 G C snp 69.77 0/1 98 7 4 3 0.43 intronic PRSS1 AR,AD NM_002769 exon2 c.1070-154G>C 0.000199681 0.001 Uncertain 7_142458270_G->C 7 142458270 142458270 G C snp 132.77 0/1 99 14 8 6 0.43 intronic PRSS1 AR,AD NM_002769 exon2 c.1070-135G>C Uncertain 7_142458277_A->C 7 142458277 142458277 A C snp 118.77 0/1 99 17 11 6 0.35 intronic PRSS1 AR,AD NM_002769 exon2 c.1070-128A>C Uncertain 7_142458284_T->C 7 142458284 142458284 T C snp 278.77 0/1 99 24 13 11 0.46 intronic PRSS1 AR,AD NM_002769 exon2 c.1070-121T>C Uncertain 7_142458304_T->A 7 142458304 142458304 T A snp 515.77 0/1 99 44 23 21 0.48 intronic PRSS1 AR,AD NM_002769 exon2 c.1070-101T>A Uncertain 7_142458316_A->T 7 142458316 142458316 A T snp 485.77 0/1 99 47 24 23 0.49 intronic PRSS1 AR,AD NM_002769 exon2 c.1070-89A>T Uncertain 7_142458331_A->G 7 142458331 142458331 A G snp 571.77 0/1 99 54 28 26 0.48 intronic PRSS1 AR,AD NM_002769 exon2 c.1070-74A>G Uncertain 7_142458337_A->G 7 142458337 142458337 A G snp 603.77 0/1 99 60 32 28 0.47 intronic PRSS1 AR,AD NM_002769 exon2 c.1070-68A>G Uncertain 7_142458338_T->C 7 142458338 142458338 T C snp 636.77 0/1 99 61 33 28 0.46 intronic PRSS1 AR,AD NM_002769 exon2 c.1070-67T>C Uncertain 7_142458371_T->C 7 142458371 142458371 T C snp 614.77 0/1 99 96 62 34 0.35 intronic PRSS1 AR,AD NM_002769 exon2 c.1070-34T>C 0.4958 0.4970 Uncertain 7_142458451_A->T 7 142458451 142458451 A T snp 290.77 0/1 99 153 130 23 0.15 exonic rs111033566 PRSS1 AR,AD nonsynonymous SNV NM_002769 exon2 c.A86T p.N29I 0.4751 0.4836 0.04 T 0.000 A -0.243 T 0.0 T 0.001 T CLINSIG=pathogenic,pathogenic;CLNDBN=Hereditary_pancreatitis,Hereditary_pancreatitis;CLNREVSTAT=no_assertion_criteria_provided,criteria_provided\x2c_single_submitter;CLNACC=RCV000031923.1,RCV000012652.19;CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT,GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT;CLNDSDBID=NBK84399:C0238339:167800:ORPHA676:68072000,NBK84399:C0238339:167800:ORPHA676:68072000 ID=CM971250;DIS=Pancreatitis, hereditary;TAG=DM;PUB=9322498 DM Pathogenic 7_142458486_C->T 7 142458486 142458486 C T snp 34.77 0/1 63 172 159 13 0.08 exonic PRSS1 AR,AD synonymous SNV NM_002769 exon2 c.C121T p.L41L 0.0038 0.0051 Uncertain 7_142458697_T->A 7 142458697 142458697 T A snp 32.77 0/1 61 37 33 4 0.11 intronic PRSS1 AR,AD NM_002769 exon2 c.1230+132T>A 0.0890 0.0216 Uncertain 7_142458700_G->T 7 142458700 142458700 G T snp 70.77 0/1 99 42 37 5 0.12 intronic PRSS1 AR,AD NM_002769 exon2 c.1230+135G>T 0.0969 0.0245 Uncertain 7_142458737_C->G 7 142458737 142458737 C G snp 250.77 0/1 99 70 56 14 0.2 intronic PRSS1 AR,AD NM_002769 exon2 c.1230+172C>G 0.0104 0.0288 Uncertain 7_142458739_T->C 7 142458739 142458739 T C snp 237.77 0/1 99 76 61 15 0.2 intronic PRSS1 AR,AD NM_002769 exon2 c.1230+174T>C 0.0105 0.0278 Uncertain 7_142458829_A->G 7 142458829 142458829 A G snp 625.77 0/1 99 128 95 33 0.26 intronic PRSS1 AR,AD NM_002769 exon2 c.1230+264A>G 0.000399361 0.002 0.3644 0.42 Uncertain 7_142458837_A->T 7 142458837 142458837 A T snp 644.77 0/1 99 133 100 33 0.25 intronic PRSS1 AR,AD NM_002769 exon2 c.1230+272A>T 0.3554 0.4042 Uncertain 7_142458842_T->- 7 142458842 142458842 T - indel 1110.73 0/1 99 132 98 34 0.26 intronic PRSS1 AR,AD NM_002769 exon2 c.1230+277delT 0.3314 0.3824 Uncertain 7_142458873_A->C 7 142458873 142458873 A C snp 632.77 0/1 99 125 91 34 0.27 intronic PRSS1 AR,AD NM_002769 exon2 c.1230+308A>C 0.0658 0.0722 Uncertain 7_142458881_A->T 7 142458881 142458881 A T snp 524.77 0/1 99 107 82 25 0.23 intronic PRSS1 AR,AD NM_002769 exon2 c.1230+316A>T 0.0173 0.0357 Uncertain 7_142458884_C->G 7 142458884 142458884 C G snp 496.77 0/1 99 104 80 24 0.23 intronic PRSS1 AR,AD NM_002769 exon2 c.1230+319C>G 0.0264 0.0368 Uncertain 7_142458886_T->A 7 142458886 142458886 T A snp 449.77 0/1 99 105 81 24 0.23 intronic PRSS1 AR,AD NM_002769 exon2 c.1230+321T>A 0.0163 0.0354 Uncertain 7_142458887_T->C 7 142458887 142458887 T C snp 482.77 0/1 99 102 77 25 0.25 intronic PRSS1 AR,AD NM_002769 exon2 c.1230+322T>C 0.0161 0.0361 Uncertain 7_142458898_A->T 7 142458898 142458898 A T snp 467.77 0/1 99 94 70 24 0.26 intronic PRSS1 AR,AD NM_002769 exon2 c.1230+333A>T 0.0137 0.0217 Uncertain 7_142458902_G->C 7 142458902 142458902 G C snp 462.77 0/1 99 92 68 24 0.26 intronic PRSS1 AR,AD NM_002769 exon2 c.1230+337G>C 0.0089 0.0213 Uncertain 7_142458906_T->G 7 142458906 142458906 T G snp 474.77 0/1 99 92 68 24 0.26 intronic PRSS1 AR,AD NM_002769 exon2 c.1230+341T>G 0.0122 0.0165 Uncertain 7_142458910_C->T 7 142458910 142458910 C T snp 458.77 0/1 99 92 68 24 0.26 intronic PRSS1 AR,AD NM_002769 exon2 c.1230+345C>T 0.0085 0.0161 Uncertain 7_142458929_G->C 7 142458929 142458929 G C snp 461.77 0/1 99 81 58 23 0.28 intronic PRSS1 AR,AD NM_002769 exon2 c.1230+364G>C 0.000199681 0.001 0.0133 0.0284 0.32 T 1 N -0.333 T Uncertain 7_142458938_T->A 7 142458938 142458938 T A snp 456.77 0/1 99 74 52 22 0.3 intronic PRSS1 AR,AD NM_002769 exon2 c.1230+373T>A 0.0146 0.0281 1 T 1.000 N -0.655 T Uncertain 7_142458967_A->T 7 142458967 142458967 A T snp 279.77 0/1 99 52 38 14 0.27 intronic PRSS1 AR,AD NM_002769 exon2 c.1230+402A>T 0.0513 0.0353 Uncertain 7_142458972_T->C 7 142458972 142458972 T C snp 230.77 0/1 99 46 35 11 0.24 intronic PRSS1 AR,AD NM_002769 exon2 c.1230+407T>C 0.0546 0.0380 Uncertain 7_142458987_C->G 7 142458987 142458987 C G snp 98.77 0/1 99 30 24 6 0.2 intronic PRSS1 AR,AD NM_002769 exon2 c.1230+422C>G 0.00439297 0.0208 0.0764 0.0986 Uncertain 7_142460238_G->A 7 142460238 142460238 G A snp 214.77 0/1 99 12 4 8 0.67 intronic PRSS1 AR,AD NM_002769 exon4 c.2946-43G>A 0.0180 0.0105 Uncertain 7_142460249_CTA->- 7 142460249 142460251 CTA - indel 544.73 0/1 99 24 11 13 0.54 intronic PRSS1 AR,AD NM_002769 exon4 c.2946-32_2946-30delCTA Uncertain 7_142460255_C->T 7 142460255 142460255 C T snp 441.77 0/1 99 33 17 16 0.48 intronic PRSS1 AR,AD NM_002769 exon4 c.2946-26C>T 0.0001 0 Uncertain 7_142460261_T->A 7 142460261 142460261 T A snp 511.77 0/1 99 43 24 19 0.44 intronic PRSS1 AR,AD NM_002769 exon4 c.2946-20T>A 0.998003 1 0.5815 0.6567 Uncertain 7_142460335_A->G 7 142460335 142460335 A G snp 1009.77 0/1 99 122 74 48 0.39 exonic PRSS1 AR,AD nonsynonymous SNV NM_002769 exon4 c.A508G p.K170E 0.00159744 0.5000 0.5 0.57 T 1 N -1.081 T 0.0 T 0.0 T ID=COSM42958;OCCURENCE=1(central_nervous_system) ID=CM138023;DIS=Pancreatitis, chronic;TAG=DM?;PUB=23455445 DM? Pathogenic 7_142460369_G->A 7 142460369 142460369 G A snp 918.77 0/1 99 172 119 53 0.31 exonic PRSS1 AR,AD nonsynonymous SNV NM_002769 exon4 c.G542A p.S181N 0.4997 0.4999 0.77 T 1 N -0.550 T 0.0 T 0.001 T Pathogenic 7_142460394_T->C 7 142460394 142460394 T C snp 610.77 0/1 99 177 137 40 0.23 exonic PRSS1 AR,AD synonymous SNV NM_002769 exon4 c.T567C p.L189L 0.00319489 0.4859 0.4882 Uncertain 7_142460412_A->C 7 142460412 142460412 A C snp 376.77 0/1 99 176 148 28 0.16 exonic PRSS1 AR,AD synonymous SNV NM_002769 exon4 c.A585C p.S195S 0.4856 0.4810 Uncertain 7_142460415_T->C 7 142460415 142460415 T C snp 369.77 0/1 99 178 151 27 0.15 exonic PRSS1 AR,AD synonymous SNV NM_002769 exon4 c.T588C p.C196C 0.4843 0.4779 Uncertain 7_142460461_C->A 7 142460461 142460461 C A snp 124.77 0/1 99 184 165 19 0.1 intronic PRSS1 AR,AD NM_002769 exon4 c.3083+43C>A 0.4890 0.4876 Uncertain 7_142460463_T->C 7 142460463 142460463 T C snp 155.77 0/1 99 183 165 18 0.1 intronic PRSS1 AR,AD NM_002769 exon4 c.3083+45T>C 0.4917 0.4904 Uncertain 7_142460642_G->C 7 142460642 142460642 G C snp 34.77 0/1 63 15 10 5 0.33 intronic PRSS1 AR,AD NM_002769 exon5 c.3383-76G>C Uncertain 7_142468189_C->G 7 142468189 142468189 C G snp 769.98 0/1 13 31 5 26 0.84 intergenic rs1969595 PRSS1 AR,AD 0.609425 0.7669 Uncertain 7_142470574_A->G 7 142470574 142470574 A G snp 4676.77 0/1 99 199 32 167 0.84 intergenic PRSS1 AR,AD 0.459665 0.7669 Uncertain 7_142470582_T->C 7 142470582 142470582 T C snp 172.77 0/1 99 217 185 32 0.15 intergenic rs374775884 PRSS1 AR,AD Uncertain 7_142470597_G->A 7 142470597 142470597 G A snp 63.77 0/1 92 250 217 33 0.13 intergenic rs749959728 PRSS1 AR,AD Uncertain 7_142479855_T->C 7 142479855 142479855 T C snp 124.03 1/1 12 7 0 7 1.0 ncRNA_intronic PRSS3P2 AU 0.000199681 Uncertain 7_142479915_T->C 7 142479915 142479915 T C snp 937.77 1/1 72 38 0 38 1.0 ncRNA_exonic rs377017470 PRSS3P2 AU 0.000199681 0.5462 0.7413 Uncertain 7_142479954_C->T 7 142479954 142479954 C T snp 1626.77 1/1 99 70 0 70 1.0 ncRNA_exonic rs201779716 PRSS3P2 AU 0.5692 0.7569 Uncertain 7_142480002_C->A 7 142480002 142480002 C A snp 1986.77 1/1 99 86 0 86 1.0 ncRNA_exonic rs199512312 PRSS3P2 AU 0.6135 0.7869 Uncertain 7_142480067_C->T 7 142480067 142480067 C T snp 1459.77 1/1 99 59 0 59 1.0 ncRNA_exonic rs201659809 PRSS3P2 AU 0.6095 0.7803 Uncertain 7_142480079_T->G 7 142480079 142480079 T G snp 1171.77 1/1 87 44 0 44 1.0 ncRNA_intronic rs371397657 PRSS3P2 AU 0.5782 0.7600 Uncertain 7_142480083_A->C 7 142480083 142480083 A C snp 1117.77 1/1 84 42 0 42 1.0 ncRNA_intronic rs751038000 PRSS3P2 AU 0.5630 0.7419 Uncertain 7_142480095_G->A 7 142480095 142480095 G A snp 785.77 1/1 60 36 0 36 1.0 ncRNA_intronic rs374574556 PRSS3P2 AU 0.5717 0.7532 Uncertain 7_142480126_C->A 7 142480126 142480126 C A snp 359.77 1/1 30 14 0 14 1.0 ncRNA_intronic rs374398930 PRSS3P2 AU Uncertain 7_142480137_A->G 7 142480137 142480137 A G snp 166.84 1/1 18 7 0 7 1.0 ncRNA_intronic PRSS3P2 AU 0.937899 0.994 Uncertain 7_142480141_C->G 7 142480141 142480141 C G snp 70.28 1/1 9 5 0 5 1.0 ncRNA_intronic PRSS3P2 AU 0.920927 0.994 Uncertain 7_142482044_G->A 7 142482044 142482044 G A snp 61.74 1/1 6 4 0 4 1.0 ncRNA_intronic rs373088593 PRSS3P2 AU Uncertain 7_142482049_C->T 7 142482049 142482049 C T snp 61.74 1/1 6 4 0 4 1.0 ncRNA_intronic rs377676351 PRSS3P2 AU Uncertain 7_142498653_AT->- 7 142498653 142498654 AT - indel 709.73 0/1 99 63 45 18 0.29 intergenic rs374688774 PRSS3P2 AU Uncertain 7_142498673_G->A 7 142498673 142498673 G A snp 622.77 0/1 99 91 63 28 0.31 intergenic rs376425724 PRSS3P2 AU Uncertain 7_142498687_T->C 7 142498687 142498687 T C snp 618.77 0/1 99 118 87 31 0.26 intergenic PRSS3P2 AU 0.6171 0.5267 Uncertain 7_142498699_A->G 7 142498699 142498699 A G snp 585.77 0/1 99 139 109 30 0.22 intergenic rs782096363 PRSS3P2 AU 0.4962 0.4927 Uncertain 7_142498702_C->T 7 142498702 142498702 C T snp 616.77 0/1 99 144 113 31 0.22 intergenic rs782462756 PRSS3P2 AU 0.4963 0.4928 Uncertain 7_142498706_T->A 7 142498706 142498706 T A snp 586.77 0/1 99 149 119 30 0.2 intergenic PRSS3P2 AU Uncertain 7_142498707_T->C 7 142498707 142498707 T C snp 605.77 0/1 99 151 121 30 0.2 intergenic rs371096403 PRSS3P2 AU 2.944e-05 0 Uncertain 7_142498708_A->C 7 142498708 142498708 A C snp 604.77 0/1 99 152 121 31 0.2 intergenic rs373078226 PRSS3P2 AU Uncertain 7_142498735_A->C 7 142498735 142498735 A C snp 1693.77 0/1 99 219 146 73 0.33 intergenic rs377360215 PRSS3P2 AU 0.4998 0.5 Uncertain 7_142498738_C->G 7 142498738 142498738 C G snp 1746.77 0/1 99 224 148 76 0.34 intergenic rs370415932 PRSS3P2 AU 0.4998 0.5 Uncertain 7_142498833_A->T 7 142498833 142498833 A T snp 2643.77 0/1 99 249 147 102 0.41 intergenic rs1042956 PRSS3P2 AU 0.5000 0.5 Uncertain 7_142498837_C->T 7 142498837 142498837 C T snp 2729.77 0/1 99 250 144 106 0.42 intergenic rs1042957 PRSS3P2 AU 0.379534 0.4844 0.4993 Uncertain 7_142498897_A->G 7 142498897 142498897 A G snp 2809.77 0/1 99 250 141 109 0.44 intergenic PRSS3P2 AU 0.4984 0.4996 Uncertain 7_142499071_T->C 7 142499071 142499071 T C snp 1551.77 0/1 99 147 83 64 0.44 intergenic PRSS3P2 AU 0.552183 0.5211 0.5126 Uncertain 7_142499836_T->C 7 142499836 142499836 T C snp 79.77 0/1 99 51 44 7 0.14 intergenic rs782572802 PRSS3P2 AU 0.0164 0.0140 Uncertain 7_142499854_T->C 7 142499854 142499854 T C snp 68.77 0/1 97 53 47 6 0.11 intergenic rs782379154 PRSS3P2 AU 0.0357 0.0433 Uncertain 7_142566583_C->G 7 142566583 142566583 C G snp 977.77 0/1 99 78 40 38 0.49 intronic EPHB6 AU NM_001280794 exon14 c.4060+89C>G Uncertain 7_142567803_G->A 7 142567803 142567803 G A snp 108.77 0/1 99 8 4 4 0.5 intronic rs143522538 EPHB6 AU NM_001280794 exon16 c.5285+84G>A 0.00199681 0.0099 Uncertain 7_142583330_A->C 7 142583330 142583330 A C snp 851.77 0/1 99 67 33 34 0.51 exonic TRPV6 AU nonsynonymous SNV NM_018646 exon1 c.T52G p.S18A 0.980232 0.9742 Pathogenic 7_143017807_G->T 7 143017807 143017807 G T snp 1717.77 1/1 99 69 0 69 1.0 exonic rs10282312 CLCN1 AR,AD,AU nonsynonymous SNV NM_000083 exon3 c.G352T p.G118W 0.99361 1 0.981855 0.9861 1 1 T 0.024 P -0.925 T 0.0 T 0.0 T ID=CM127929;DIS=Myotonia;TAG=DM?;PUB=NO ID DM? Pathogenic 7_143028536_G->A 7 143028536 143028536 G A snp 1204.77 1/1 90 36 0 36 1.0 intronic rs2242493 CLCN1 AR,AD,AU NM_000083 exon10 c.15338-107G>A 0.641773 0.8294 Uncertain 7_143029371_G->T 7 143029371 143029371 G T snp 770.77 1/1 57 21 0 21 1.0 intronic rs2367941 CLCN1 AR,AD,AU NM_000083 exon11 c.16206-140G>T 0.891973 0.8859 Uncertain 7_143036780_T->C 7 143036780 143036780 T C snp 772.77 0/1 99 53 26 27 0.51 intronic rs34219073 CLCN1 AR,AD,AU NM_000083 exon14 c.23409+66T>C 0.138778 0.2986 Uncertain 7_143042556_C->A 7 143042556 143042556 C A snp 204.77 0/1 99 25 15 10 0.4 intronic rs543780953 CLCN1 AR,AD,AU NM_000083 exon17 c.29308-57C>A 0.000399361 0.002 Uncertain 7_143042837_C->T 7 143042837 143042837 C T snp 2351.77 1/1 99 84 0 84 1.0 exonic rs2272251 CLCN1 AR,AD,AU synonymous SNV NM_000083 exon17 c.C2154T p.D718D 0.478235 0.6141 0.399011 0.5397 0.6633 Uncertain 7_143054585_A->G 7 143054585 143054585 A G snp 1068.77 1/1 75 42 0 42 1.0 intronic rs6958357 FAM131B AU NM_001278297 exon2 c.874+69A>G 0.998602 1 Uncertain 7_143057268_C->T 7 143057268 143057268 C T snp 1517.77 0/1 99 115 51 64 0.56 intronic rs13244040 FAM131B AU NM_001278297 exon5 c.3600+26C>T 0.205871 0.3552 0.158125 0.2848 0.4813 Uncertain 7_143078928_C->G 7 143078928 143078928 C G snp 707.77 1/1 54 18 0 18 1.0 intronic rs10808025 ZYX AU NM_003461 exon2 c.208+56C>G 0.996605 1 Uncertain 7_143079196_GCGCCCT->- 7 143079196 143079202 GCGCCCT - indel 602.73 0/1 99 13 6 7 0.54 intronic rs17551528 ZYX AU NM_003461 exon3 c.676-144_676-138delGCGCCCT 0.0984425 0.2014 Uncertain 7_143079806_G->A 7 143079806 143079806 G A snp 1145.77 0/1 99 97 50 47 0.48 ncRNA_exonic rs6464546 MIR6892 AU 0.346645 0.1687 0.496079 0.4916 0.1532 Uncertain 7_143086832_T->C 7 143086832 143086832 T C snp 56.74 1/1 6 2 0 2 1.0 intronic rs10266621 ZYX AU NM_003461 exon9 c.8285-117T>C 0.638179 0.7718 Uncertain 7_143088823_T->C 7 143088823 143088823 T C snp 7019.77 1/1 99 246 0 246 1.0 exonic rs1804527 EPHA1 AU synonymous SNV NM_005232 exon17 c.A2742G p.P914P 0.958866 0.9931 0.922882 0.9365 0.9963 Uncertain 7_143088867_T->C 7 143088867 143088867 T C snp 5317.77 1/1 99 191 0 191 1.0 exonic rs6967117 EPHA1 AU nonsynonymous SNV NM_005232 exon17 c.A2698G p.M900V 0.960264 1 0.922882 0.9366 0.9988 1 T 0.000 P -0.961 T 0.0 T 0.0 T Pathogenic 7_143093538_G->A 7 143093538 143093538 G A snp 2446.77 1/1 99 90 0 90 1.0 exonic rs10952549 EPHA1 AU synonymous SNV NM_005232 exon11 c.C1837T p.L613L 0.859824 0.996 0.782716 0.8244 0.9984 Uncertain 7_143097100_A->G 7 143097100 143097100 A G snp 3175.77 1/1 99 106 0 106 1.0 exonic rs4725617 EPHA1 AU nonsynonymous SNV NM_005232 exon4 c.T479C p.V160A 0.94349 0.9921 0.903275 0.9284 0.9914 0.23 T 0.0 P -0.982 T 0.0 T 0.0 T Pathogenic 7_143097320_C->T 7 143097320 143097320 C T snp 263.8 1/1 21 8 0 8 1.0 intronic rs7786333 EPHA1 AU NM_005232 exon15 c.8597+174C>T 0.352636 0.5 Uncertain 7_143140931_TCT->- 7 143140931 143140933 TCT - indel 4521.73 0/1 99 200 107 93 0.47 exonic rs35195910 TAS2R60 AU nonframeshift deletion NM_177437 exon1 c.386_388del p.129_130del 0.0321486 0.0734 0.039617 0.0456 0.1016 Uncertain 7_143141475_T->C 7 143141475 143141475 T C snp 230.77 0/1 99 36 23 13 0.36 exonic rs4595035 TAS2R60 AU synonymous SNV NM_177437 exon1 c.T930C p.R310R 0.707268 0.8889 0.623443 0.6964 0.8705 Uncertain 7_143174892_A->G 7 143174892 143174892 A G snp 227.84 1/1 18 7 0 7 1.0 ncRNA_intronic rs1404634 EPHA1-AS1 AU 0.741414 0.6081 Uncertain 7_143175154_G->A 7 143175154 143175154 G A snp 3372.77 0/1 99 250 117 133 0.53 exonic rs1404635 TAS2R41 AU synonymous SNV NM_176883 exon1 c.G189A p.T63T 0.211062 0.2956 0.201231 0.2623 0.2782 Uncertain 7_143175345_C->T 7 143175345 143175345 C T snp 1871.77 0/1 99 124 54 70 0.56 exonic rs10278721 TAS2R41 AU nonsynonymous SNV NM_176883 exon1 c.C380T p.P127L 0.211262 0.2956 0.204922 0.2621 0.2778 0.03 T 0.0 P -0.947 T 0.418 T 0.145 T Pathogenic 7_143295456_A->C 7 143295456 143295456 A C snp 1126.77 0/1 99 249 178 71 0.29 intergenic rs200633232 CTAGE15 AU Uncertain 7_143306628_C->T 7 143306628 143306628 C T snp 90.28 1/1 9 96 72 24 0.25 intergenic CTAGE15 AU Uncertain 7_143400301_A->G 7 143400301 143400301 A G snp 48.77 0/1 77 202 98 104 0.51 exonic rs1568852 TCAF2 AU nonsynonymous SNV NM_001130025 exon2 c.A214G p.T72A 0.1165 0.5313 1 T 1 N -1.015 T 0.0 T 0.001 T ID=COSM3366838;OCCURENCE=1(thyroid),1(breast),1(kidney) Pathogenic 7_143530735_C->T 7 143530735 143530735 C T snp 132.9 1/1 15 80 0 80 1.0 ncRNA_exonic rs200731498 LOC154761 AU 0.0001 0 Uncertain 7_143549350_A->G 7 143549350 143549350 A G snp 98.77 0/1 99 139 104 35 0.25 UTR3 rs201659628 TCAF1 AU Uncertain 7_143554451_G->A 7 143554451 143554451 G A snp 149.77 0/1 99 58 31 27 0.47 intronic rs200166862 TCAF1 AU NM_001206941 exon2 c.3218+8G>A 0.5429 0.4876 Uncertain 7_143632265_A->G 7 143632265 143632265 A G snp 610.77 0/1 99 40 20 20 0.5 upstream rs2240358 OR2F2 AU 0.435903 0.5407 Uncertain 7_143632618_C->T 7 143632618 143632618 C T snp 739.77 0/1 99 61 33 28 0.46 exonic rs2240359 OR2F2 AU nonsynonymous SNV NM_001004685 exon1 c.C293T p.A98V 0.435304 0.5397 0.404538 0.3414 0.5444 1 T 0.447 P -1.167 T 0.732 T 0.16 P Pathogenic 7_143633297_A->G 7 143633297 143633297 A G snp 1018.77 0/1 99 74 32 42 0.57 downstream rs984764 OR2F2 AU 0.465655 0.5694 0.421242 0.3980 0.5787 Uncertain 7_143657427_C->T 7 143657427 143657427 C T snp 954.77 0/1 99 108 59 49 0.45 exonic rs2072164 OR2F1 AU nonsynonymous SNV NM_012369 exon1 c.C364T p.R122C 0.114417 0.1617 0.070045 0.1013 0.1694 0 D 1.000 P -0.866 T 0.014 T 0.01 T Pathogenic 7_143657473_A->G 7 143657473 143657473 A G snp 1534.77 0/1 99 147 81 66 0.45 exonic rs2072165 OR2F1 AU nonsynonymous SNV NM_012369 exon1 c.A410G p.H137R 0.226038 0.1627 0.191219 0.1515 0.1693 0.05 T 0.001 P -0.940 T 0.001 T 0.002 T Pathogenic 7_143657801_A->G 7 143657801 143657801 A G snp 1706.77 0/1 99 188 115 73 0.39 exonic rs2072166 OR2F1 AU synonymous SNV NM_012369 exon1 c.A738G p.T246T 0.457468 0.5744 0.423728 0.3789 0.5737 Uncertain 7_143701516_C->T 7 143701516 143701516 C T snp 3066.77 0/1 99 231 114 117 0.51 exonic rs7787378 OR6B1 AU nonsynonymous SNV NM_001005281 exon1 c.C427T p.R143C 0.16234 0.2411 0.085512 0.1407 0.2436 0.22 T 0.014 P -0.877 T 0.002 T 0.022 T Pathogenic 7_143701884_C->T 7 143701884 143701884 C T snp 2421.77 0/1 99 250 155 95 0.38 exonic rs728275 OR6B1 AU synonymous SNV NM_001005281 exon1 c.C795T p.A265A 0.387181 0.5823 0.347979 0.3828 0.5823 Uncertain 7_143702150_A->G 7 143702150 143702150 A G snp 288.77 0/1 99 16 7 9 0.56 downstream rs1859506 OR6B1 AU 0.436102 0.5833 Uncertain 7_143747482_C->- 7 143747482 143747482 C - indel 2549.73 0/1 99 123 57 66 0.54 upstream rs79781351 OR2A5 AU 0.321885 0.6558 0.191138 0.2961 0.6732 Uncertain 7_143748364_T->C 7 143748364 143748364 T C snp 2178.77 0/1 99 139 52 87 0.63 exonic rs4407791 OR2A5 AU synonymous SNV NM_012365 exon1 c.T870C p.Y290Y 0.681709 0.6637 0.634502 0.6008 0.6790 Uncertain 7_143748520_T->G 7 143748520 143748520 T G snp 339.77 0/1 99 19 6 13 0.68 downstream rs1919969 OR2A5 AU 0.138978 0.2133 Uncertain 7_143771111_T->C 7 143771111 143771111 T C snp 304.77 0/1 99 13 4 9 0.69 upstream rs2951309 OR2A25 AU 0.615216 0.6379 Uncertain 7_143771408_G->C 7 143771408 143771408 G C snp 1968.77 0/1 99 145 78 67 0.46 exonic rs59319753 OR2A25 AU synonymous SNV NM_001004488 exon1 c.G96C p.L32L 0.33726 0.628 0.207058 0.2900 0.6585 Uncertain 7_143771536_G->A 7 143771536 143771536 G A snp 2069.77 0/1 99 149 71 78 0.52 exonic rs6951485 OR2A25 AU nonsynonymous SNV NM_001004488 exon1 c.G224A p.S75N 0.63738 0.6379 0.596725 0.5865 0.6715 0.67 T 0.0 P -1.017 T 0.0 T 0.0 T ID=CM141874;DIS=Altered receptor function;TAG=FP;PUB=24316890 FP Pathogenic 7_143771557_T->C 7 143771557 143771557 T C snp 2401.77 0/1 99 185 87 98 0.53 exonic rs61731397 OR2A25 AU nonsynonymous SNV NM_001004488 exon1 c.T245C p.V82A 0.148962 0.2877 0.044979 0.1203 0.3094 0.65 T 0.0 P -1.084 T 0.007 T 0.01 T Pathogenic 7_143771937_G->C 7 143771937 143771937 G C snp 2258.77 0/1 99 177 81 96 0.54 exonic rs2961135 OR2A25 AU nonsynonymous SNV NM_001004488 exon1 c.G625C p.A209P 0.613219 0.6369 0.572781 0.5666 0.6610 1 T 0.0 P -0.957 T 0.0 T 0.0 T ID=CM141875;DIS=Altered receptor function;TAG=FP;PUB=24316890 FP Pathogenic 7_143807515_T->G 7 143807515 143807515 T G snp 4747.77 1/1 99 175 0 175 1.0 exonic rs2961149 OR2A2 AU nonsynonymous SNV NM_001005480 exon1 c.T840G p.F280L 0.4998 0.7391 0.325687 0.4326 0.7527 0.27 T 0.0 P -0.907 T 0.046 T 0.119 T Pathogenic 7_143807518_T->C 7 143807518 143807518 T C snp 4784.77 1/1 99 178 0 178 1.0 exonic rs2951315 OR2A2 AU synonymous SNV NM_001005480 exon1 c.T843C p.N281N 0.4998 0.7391 0.325627 0.4327 0.7527 Uncertain 7_143807674_T->C 7 143807674 143807674 T C snp 1626.77 1/1 99 56 0 56 1.0 downstream rs2961150 OR2A2 AU 0.4998 0.7391 0.294959 0.4329 0.7574 Uncertain 7_143826603_G->T 7 143826603 143826603 G T snp 5073.77 1/1 99 177 1 176 0.99 exonic rs2961160 OR2A14 AU nonsynonymous SNV NM_001001659 exon1 c.G398T p.S133I 0.659944 0.7371 0.605636 0.5943 0.7539 0.17 T 0.0 P -1.097 T 0.0 T 0.0 T Pathogenic 7_143826697_C->G 7 143826697 143826697 C G snp 3466.77 1/1 99 125 0 125 1.0 exonic rs2961161 OR2A14 AU nonsynonymous SNV NM_001001659 exon1 c.C492G p.S164R 0.675519 0.7371 0.618396 0.5985 0.7539 1 T 0.0 P -0.958 T 0.0 T 0.0 T Pathogenic 7_143826730_CTT->- 7 143826730 143826732 CTT - indel 3516.73 1/1 99 70 0 70 1.0 exonic rs34602346 OR2A14 AU nonframeshift deletion NM_001001659 exon1 c.525_527del p.175_176del 0.578474 0.7371 0.5702 0.7514 Uncertain 7_143839408_C->T 7 143839408 143839408 C T snp 7364.77 1/1 99 244 1 243 1.0 intergenic rs1919954 OR2A14 AU 0.580272 0.747 0.5715 0.7582 Uncertain 7_143839605_T->C 7 143839605 143839605 T C snp 3440.77 1/1 99 111 0 111 1.0 intergenic rs1919953 OR2A14 AU 0.580272 0.747 0.5717 0.7589 Uncertain 7_143929772_G->A 7 143929772 143929772 G A snp 277.78 1/1 24 52 31 21 0.4 ncRNA_intronic rs202091077 LOC101928605 AU 0.313498 0.5427 0.3970 0.7671 Uncertain 7_143980237_A->G 7 143980237 143980237 A G snp 160.84 1/1 18 114 72 42 0.37 ncRNA_intronic rs577124748 ARHGEF34P AU 0.385982 0.6835 Uncertain 7_144015434_A->G 7 144015434 144015434 A G snp 4339.77 1/1 99 138 1 137 0.99 exonic rs141871720 OR2A1 AU nonsynonymous SNV NM_001001802 exon1 c.A217G p.T73A 0.898363 0.9891 0.8198 0.9926 0.7 T 0.0 P -1.110 T Pathogenic 7_144015437_C->T 7 144015437 144015437 C T snp 4465.77 1/1 99 148 1 147 0.99 exonic rs150229766 OR2A1 AU nonsynonymous SNV NM_001001802 exon1 c.C220T p.R74C 0.864417 0.9782 0.8104 0.9927 0.18 T 0.0 P -0.957 T Pathogenic 7_144015658_C->T 7 144015658 144015658 C T snp 1028.77 1/1 99 250 87 163 0.65 exonic rs200043627 OR2A1 AU synonymous SNV NM_001001802 exon1 c.C441T p.S147S 0.3825 0.4994 Uncertain 7_144015687_C->T 7 144015687 144015687 C T snp 722.77 1/1 72 249 99 150 0.6 exonic rs202096920 OR2A1 AU nonsynonymous SNV NM_001001802 exon1 c.C470T p.A157V 0.743011 0.877 0.6639 0.8837 1 T 0.000 P -0.979 T Pathogenic 7_144015720_C->G 7 144015720 144015720 C G snp 438.77 1/1 45 235 96 139 0.59 exonic rs201568948 OR2A1 AU nonsynonymous SNV NM_001001802 exon1 c.C503G p.S168C 0.8316 0.9918 1 T 0.002 P -1.064 T Pathogenic 7_144068163_T->C 7 144068163 144068163 T C snp 1119.77 0/1 99 58 21 37 0.64 intronic rs146660641 ARHGEF5 AU NM_005435 exon6 c.8491-90T>C 0.611621 0.5298 Uncertain 7_144068207_G->C 7 144068207 144068207 G C snp 331.77 0/1 99 184 158 26 0.14 intronic rs201182117 ARHGEF5 AU NM_005435 exon6 c.8491-46G>C 0.0133 0.1384 Uncertain 7_144068480_G->A 7 144068480 144068480 G A snp 381.77 1/1 39 43 0 43 1.0 intronic rs1208162 ARHGEF5 AU NM_005435 exon6 c.8652+66G>A 0.676518 0.8482 Uncertain 7_144075749_A->G 7 144075749 144075749 A G snp 2733.77 1/1 99 91 0 91 1.0 intronic rs1635079 ARHGEF5 AU NM_005435 exon14 c.16092-105A>G 0.666534 0.7867 Uncertain 7_144076915_C->G 7 144076915 144076915 C G snp 389.77 1/1 30 10 0 10 1.0 intronic rs1626337 ARHGEF5 AU NM_005435 exon15 c.17229-76C>G 0.666534 0.7877 Uncertain 7_144095600_A->G 7 144095600 144095600 A G snp 863.77 1/1 63 27 0 27 1.0 exonic rs2699503 NOBOX AD nonsynonymous SNV NM_001080413 exon9 c.T1549C p.F517L 0.696286 0.8343 0.6807 0.7824 0.04 T 0.020 P -1.083 T Pathogenic 7_144095730_C->T 7 144095730 144095730 C T snp 312.78 1/1 24 10 0 10 1.0 intronic rs11979528 NOBOX AD NM_001080413 exon2 c.1347+51C>T 0.531749 0.8105 0.381025 Uncertain 7_144096456_C->T 7 144096456 144096456 C T snp 1378.77 1/1 99 50 0 50 1.0 intronic rs11769787 NOBOX AD NM_001080413 exon4 c.2157-33C>T 0.54373 0.8115 0.401987 0.5127 0.8043 Uncertain 7_144096598_C->T 7 144096598 144096598 C T snp 991.77 1/1 72 34 0 34 1.0 intronic rs11769847 NOBOX AD NM_001080413 exon4 c.2243+23C>T 0.70607 0.8343 0.600804 0.6789 0.8238 Uncertain 7_144096839_A->G 7 144096839 144096839 A G snp 1465.77 1/1 99 47 0 47 1.0 intronic rs757388 NOBOX AD NM_001080413 exon5 c.2517-10A>G 0.70627 0.8343 0.599572 0.6757 0.8338 Uncertain 7_144098896_T->C 7 144098896 144098896 T C snp 2535.77 1/1 99 84 0 84 1.0 intronic rs727712 NOBOX AD NM_001080413 exon8 c.4629-65T>C 0.705871 0.8343 Uncertain 7_144098992_G->A 7 144098992 144098992 G A snp 3423.77 1/1 99 128 0 128 1.0 exonic rs727714 NOBOX AD synonymous SNV NM_001080413 exon3 c.C262T p.L88L 0.70627 0.8343 0.600500 0.6312 0.8233 Uncertain 7_144100697_T->C 7 144100697 144100697 T C snp 102.77 0/1 99 85 67 18 0.21 intronic NOBOX AD NM_001080413 exon9 c.7316-951T>C Uncertain 7_144100875_CGGGC->- 7 144100875 144100879 CGGGC - indel 805.73 1/1 36 37 0 37 1.0 intronic rs375024030 NOBOX AD NM_001080413 exon9 c.7316-773_7316-769delCGGGC 0.772364 0.8343 Uncertain 7_144245544_A->- 7 144245544 144245544 A - indel 541.73 0/1 99 78 49 29 0.37 intronic rs111498606 TPK1 AR NM_001042482 exon2 c.94946-39delA 0.221645 0.2927 0.3603 0.4808 Uncertain 7_144462951_C->T 7 144462951 144462951 C T snp 1650.77 1/1 99 63 0 63 1.0 intronic rs3779087 TPK1 AR NM_001042482 exon6 c.312335-21C>T 0.742013 0.7996 0.676511 0.6528 0.7952 Uncertain 7_144703163_T->G 7 144703163 144703163 T G snp 1715.77 0/1 99 137 70 67 0.49 intergenic rs35986454 TPK1 AR 0.46865 0.6161 0.434737 0.4849 0.6313 Uncertain 7_144703301_G->A 7 144703301 144703301 G A snp 534.77 0/1 99 32 14 18 0.56 intergenic rs7778697 TPK1 AR 0.230032 0.249 0.267103 0.2624 0.2436 Uncertain 7_145813854_G->A 7 145813854 145813854 G A snp 248.8 1/1 21 8 0 8 1.0 UTR5 rs2462603 CNTNAP2 AU 0.511981 0.624 Uncertain 7_146805228_-->G 7 146805228 146805228 - G indel 380.73 0/1 99 17 6 11 0.65 intronic rs35167289 CNTNAP2 AU NM_014141 exon5 c.991270-10insG 0.377995 0.3552 0.417412 0.3982 0.3498 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000081607.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 7_146826061_A->G 7 146826061 146826061 A G snp 262.77 0/1 99 14 6 8 0.57 intronic rs3807570 CNTNAP2 AU NM_014141 exon7 c.1011960+133A>G 0.482628 0.6528 Uncertain 7_146997203_T->A 7 146997203 146997203 T A snp 4310.77 1/1 99 143 0 143 1.0 ncRNA_intronic rs2692185 MIR548I4 AU 0.79972 0.7758 0.770183 0.7344 0.7695 Uncertain 7_147074998_G->T 7 147074998 147074998 G T snp 1016.77 0/1 99 76 33 43 0.57 ncRNA_intronic rs6945709 MIR548I4 AU 0.340256 0.0546 Uncertain 7_147093040_T->G 7 147093040 147093040 T G snp 93.28 1/1 9 3 0 3 1.0 ncRNA_intronic rs700309 MIR548I4 AU 0.797524 0.7381 Uncertain 7_147183143_A->G 7 147183143 147183143 A G snp 1497.77 0/1 99 148 83 65 0.44 ncRNA_intronic rs2286127 MIR548I4 AU 0.274561 0.3581 0.189682 0.2255 0.3649 Uncertain 7_147600604_C->A 7 147600604 147600604 C A snp 1859.77 1/1 99 64 0 64 1.0 intronic rs2538962 CNTNAP2 AU NM_014141 exon14 c.1786688-52C>A 0.624601 0.6399 Uncertain 7_147674912_T->C 7 147674912 147674912 T C snp 421.77 0/1 99 53 33 20 0.38 ncRNA_intronic rs2373284 MIR548T AU 0.540335 0.7609 0.442642 0.4556 0.7663 Uncertain 7_147869670_T->C 7 147869670 147869670 T C snp 1167.77 0/1 99 69 28 41 0.59 ncRNA_intronic rs2074711 MIR548T AU 0.320887 0.5188 Uncertain 7_147963925_C->G 7 147963925 147963925 C G snp 94.77 0/1 99 16 11 5 0.31 ncRNA_intronic rs3801974 MIR548T AU 0.800519 0.7738 Uncertain 7_147963983_G->C 7 147963983 147963983 G C snp 1722.77 1/1 99 55 0 55 1.0 ncRNA_intronic rs10248273 MIR548T AU 0.989018 1 Uncertain 7_147964016_A->G 7 147964016 147964016 A G snp 1375.77 0/1 99 105 56 49 0.47 ncRNA_intronic rs3801975 MIR548T AU 0.798922 0.7748 Uncertain 7_147964091_G->A 7 147964091 147964091 G A snp 2606.77 0/1 99 229 112 117 0.51 ncRNA_intronic rs3801976 MIR548T AU 0.798722 0.7738 0.738505 0.7758 0.7726 Uncertain 7_148080647_T->G 7 148080647 148080647 T G snp 1065.77 1/1 78 33 1 32 0.97 intronic rs1637841 CNTNAP2 AU NM_014141 exon22 c.2266772-93T>G 0.664936 0.7103 Uncertain 7_148131742_G->A 7 148131742 148131742 G A snp 2744.77 1/1 99 102 0 102 1.0 intergenic rs2108673 CNTNAP2 AU 0.449681 0.5089 Uncertain 7_148143136_A->G 7 148143136 148143136 A G snp 5446.77 1/1 99 201 0 201 1.0 intergenic rs2530301 CNTNAP2 AU 0.985423 1 Uncertain 7_148311115_-->T 7 148311115 148311115 - T indel 2553.73 1/1 99 67 0 67 1.0 intronic rs11434056 C7orf33 AU NM_145304 exon2 c.23116-18insT 0.583067 0.5794 0.536182 0.5608 0.5961 Uncertain 7_148312382_T->G 7 148312382 148312382 T G snp 4877.77 1/1 99 177 0 177 1.0 intronic rs6962115 C7orf33 AU NM_145304 exon3 c.24401-36T>G 0.609625 0.5813 0.563202 0.5665 0.5952 Uncertain 7_148312520_T->C 7 148312520 148312520 T C snp 3529.77 1/1 99 128 0 128 1.0 UTR3 rs6962292 C7orf33 AU 0.608626 0.5813 0.563278 0.5663 0.5956 Uncertain 7_148463860_T->C 7 148463860 148463860 T C snp 344.77 0/1 99 28 14 14 0.5 intronic rs1014095 CUL1 AU NM_003592 exon8 c.36601+45T>C 0.785743 0.6984 0.806005 0.7393 0.6709 Uncertain 7_148464675_T->G 7 148464675 148464675 T G snp 598.77 0/1 99 53 30 23 0.43 intronic rs6956231 CUL1 AU NM_003592 exon9 c.37496-35T>G 0.785543 0.6984 0.802553 0.7333 0.6661 Uncertain 7_148483760_G->A 7 148483760 148483760 G A snp 399.77 0/1 99 38 23 15 0.39 intronic rs2072406 CUL1 AU NM_003592 exon12 c.56477+69G>A 0.704673 0.6974 0.661191 Uncertain 7_148487329_G->T 7 148487329 148487329 G T snp 682.77 0/1 99 54 25 29 0.54 intronic rs933436 CUL1 AU NM_003592 exon16 c.60187-72G>T 0.708866 0.7014 Uncertain 7_148487395_T->C 7 148487395 148487395 T C snp 1155.77 0/1 99 111 58 53 0.48 intronic rs2007404 CUL1 AU NM_003592 exon16 c.60187-6T>C 0.671725 0.7014 0.641781 0.6313 0.6711 Uncertain 7_148504717_G->- 7 148504717 148504717 G - indel 877.73 0/1 99 63 33 30 0.48 UTR3 rs3217095 EZH2 AD 0.770966 0.7024 0.769409 0.6897 0.6505 Uncertain 7_148504854_-->GACTT 7 148504854 148504854 - GACTT indel 1929.73 0/1 99 74 40 34 0.46 intronic rs55877618 EZH2 AD NM_004456 exon1 c.61+56insGACTT 0.694888 0.7014 Uncertain 7_148506064_A->G 7 148506064 148506064 A G snp 1746.77 0/1 99 136 59 77 0.57 intronic rs740949 EZH2 AD NM_004456 exon2 c.1425-98A>G 0.728235 0.7024 Uncertain 7_148508833_A->G 7 148508833 148508833 A G snp 1248.77 0/1 99 103 55 48 0.47 intronic rs2072407 EZH2 AD NM_004456 exon5 c.4075+21A>G 0.690695 0.7024 0.682300 0.6683 0.6736 Uncertain 7_148543525_A->G 7 148543525 148543525 A G snp 2708.77 0/1 99 192 78 114 0.59 intronic rs10274535 EZH2 AD NM_004456 exon18 c.38824-36A>G 0.770367 0.7014 0.771259 0.7040 0.6651 Uncertain 7_148543694_A->- 7 148543694 148543694 A - indel 1200.73 0/1 99 110 35 75 0.68 splicing rs3214332 EZH2 AD NM_004456 exon18 c.38953+4delA 0.761182 0.6974 0.7134 0.6831 ID=COSM1735881,COSM1735880;OCCURENCE=1(central_nervous_system) Pathogenic 7_148700083_-->C 7 148700083 148700083 - C indel 1288.73 0/1 99 73 39 34 0.47 downstream rs11414114 PDIA4 AU 0.270567 0.0635 Uncertain 7_148700818_C->G 7 148700818 148700818 C G snp 213.77 0/1 99 30 21 9 0.3 UTR3 rs115293595 PDIA4 AU 0.0407348 0.0585 Uncertain 7_148700820_T->C 7 148700820 148700820 T C snp 218.77 0/1 99 30 21 9 0.3 UTR3 rs79907154 PDIA4 AU 0.0407348 0.0585 Uncertain 7_148702157_C->T 7 148702157 148702157 C T snp 323.77 0/1 99 32 19 13 0.41 intronic rs28532077 PDIA4 AU NM_004911 exon2 c.1347-75C>T 0.195687 0.0635 Uncertain 7_148702486_A->G 7 148702486 148702486 A G snp 1415.77 0/1 99 119 60 59 0.5 intronic rs7795577 PDIA4 AU NM_004911 exon2 c.1581+20A>G 0.270367 0.0635 0.310626 0.2125 0.0854 Uncertain 7_148702496_C->T 7 148702496 148702496 C T snp 1102.77 0/1 99 109 58 51 0.47 intronic rs7777113 PDIA4 AU NM_004911 exon2 c.1581+30C>T 0.261382 0.0635 0.309011 0.2176 0.0861 Uncertain 7_148702959_C->- 7 148702959 148702959 C - indel 1931.73 0/1 99 104 44 60 0.58 intronic rs150408680 PDIA4 AU NM_004911 exon3 c.2103-29delC 0.196086 0.0635 0.230032 0.1915 0.0864 Uncertain 7_148703244_G->- 7 148703244 148703244 G - indel 1083.73 0/1 99 78 39 39 0.5 intronic rs11315544 PDIA4 AU NM_004911 exon3 c.2260+99delG 0.270168 0.0635 Uncertain 7_148705221_A->G 7 148705221 148705221 A G snp 1985.77 1/1 99 65 0 65 1.0 intronic rs2306172 PDIA4 AU NM_004911 exon4 c.4365-29A>G 0.894569 0.7698 0.936260 0.9611 0.7619 Uncertain 7_148705490_G->A 7 148705490 148705490 G A snp 400.77 0/1 99 30 16 14 0.47 intronic rs10272564 PDIA4 AU NM_004911 exon4 c.4517+88G>A 0.260583 0.0645 Uncertain 7_148712092_G->A 7 148712092 148712092 G A snp 1617.77 0/1 99 119 49 70 0.59 exonic rs2290971 PDIA4 AU nonsynonymous SNV NM_004911 exon4 c.C518T p.T173M 0.0223642 0.0595 0.017146 0.0172 0.0773 0.12 T 0.974 D -1.107 T 0.749 T 0.106 P Pathogenic 7_148718310_C->T 7 148718310 148718310 C T snp 210.77 0/1 99 19 10 9 0.47 intronic rs117984258 PDIA4 AU NM_004911 exon9 c.17354+71C>T 0.0223642 0.0595 Uncertain 7_148778355_C->A 7 148778355 148778355 C A snp 431.77 1/1 33 11 0 11 1.0 intronic rs34939910 ZNF786 AU NM_152411 exon3 c.10295+546C>A 0.600439 0.9048 Uncertain 7_148801091_G->A 7 148801091 148801091 G A snp 7256.77 1/1 99 248 1 247 1.0 exonic rs11525060 ZNF425 AU synonymous SNV NM_001001661 exon4 c.C1872T p.N624N 0.659145 0.9067 0.567046 0.6831 0.9050 Uncertain 7_148801658_C->T 7 148801658 148801658 C T snp 4796.77 1/1 99 166 1 165 0.99 exonic rs1137432 ZNF425 AU synonymous SNV NM_001001661 exon4 c.G1305A p.Q435Q 0.603035 0.9067 0.501845 0.6672 0.9052 Uncertain 7_148809451_T->C 7 148809451 148809451 T C snp 4242.77 1/1 99 147 0 147 1.0 intronic rs6464938 ZNF425 AU NM_001001661 exon2 c.8684+64T>C 0.963259 0.999 Uncertain 7_148823366_A->G 7 148823366 148823366 A G snp 2900.77 1/1 99 113 0 113 1.0 UTR5 rs10251621 ZNF425 AU 0.851038 0.999 0.797416 Uncertain 7_148848257_T->C 7 148848257 148848257 T C snp 4355.77 1/1 99 156 0 156 1.0 intronic rs917122 ZNF398 AU NM_170686 exon2 c.6202-2779T>C 0.585663 0.8998 Uncertain 7_148848358_G->A 7 148848358 148848358 G A snp 4123.77 1/1 99 145 0 145 1.0 intronic rs917123 ZNF398 AU NM_170686 exon2 c.6202-2678G>A 0.586462 0.8988 0.7350 0.8955 0.37 T 0.0 P -1.081 T 0.023 T 0.002 T Uncertain 7_148851213_G->A 7 148851213 148851213 G A snp 2549.77 1/1 99 94 0 94 1.0 exonic rs917124 ZNF398 AU synonymous SNV NM_170686 exon2 c.G201A p.L67L 0.706869 0.9514 0.629325 0.7417 0.9546 Uncertain 7_148863415_AGCTCCA->- 7 148863415 148863421 AGCTCCA - indel 9800.73 1/1 99 122 0 122 1.0 intronic rs58568097 ZNF398 AU NM_170686 exon3 c.18542+39_18542+45delAGCTCCA 0.586062 0.8988 0.467866 0.6480 0.8953 Uncertain 7_148863674_C->G 7 148863674 148863674 C G snp 93.28 1/1 9 3 0 3 1.0 intronic rs7791496 ZNF398 AU NM_170686 exon4 c.19074-234C>G 0.586262 0.8988 Uncertain 7_148873497_T->A 7 148873497 148873497 T A snp 2509.77 1/1 99 92 0 92 1.0 intronic rs1568944 ZNF398 AU NM_170686 exon5 c.28725-62T>A 0.711262 0.9524 Uncertain 7_148875632_T->A 7 148875632 148875632 T A snp 225.84 1/1 18 7 0 7 1.0 intronic rs1202461 ZNF398 AU NM_170686 exon6 c.30905-107T>A 0.866214 0.9534 Uncertain 7_148895304_G->A 7 148895304 148895304 G A snp 1292.77 1/1 96 35 0 35 1.0 intronic rs12535154 ZNF282 AU NM_001303481 exon2 c.2743-120G>A 0.592851 0.9246 Uncertain 7_148903984_G->A 7 148903984 148903984 G A snp 2238.77 1/1 99 69 0 69 1.0 intronic rs12537763 ZNF282 AU NM_001303481 exon3 c.11233+70G>A 0.582069 0.9246 Uncertain 7_148904293_-->AAGGTTCTTCATAAG 7 148904293 148904293 - AAGGTTCTTCATAAG indel 1969.73 1/1 33 11 0 11 1.0 intronic rs147860582 ZNF282 AU NM_001303481 exon4 c.11761-149insAAGGTTCTTCATAAG 0.64357 0.9246 Uncertain 7_148904343_A->T 7 148904343 148904343 A T snp 1741.77 1/1 99 69 0 69 1.0 intronic rs6464946 ZNF282 AU NM_001303481 exon4 c.11761-99A>T Uncertain 7_148904624_C->T 7 148904624 148904624 C T snp 1120.77 1/1 81 40 0 40 1.0 intronic rs7784122 ZNF282 AU NM_001303481 exon4 c.11881+62C>T 0.586262 0.9256 Uncertain 7_148907849_G->A 7 148907849 148907849 G A snp 5889.77 1/1 99 214 1 213 1.0 intronic rs10952805 ZNF282 AU NM_001303481 exon5 c.15115+53G>A 0.572284 0.8681 Uncertain 7_148909687_C->T 7 148909687 148909687 C T snp 182.9 1/1 15 5 0 5 1.0 intronic rs1202425 ZNF282 AU NM_001303481 exon6 c.16882+124C>T 0.811302 0.9573 Uncertain 7_148937136_C->A 7 148937136 148937136 C A snp 555.77 0/1 99 61 35 26 0.43 intronic rs1202427 ZNF212 AU NM_012256 exon1 c.24+243C>A 0.522963 0.4236 Uncertain 7_148991712_A->G 7 148991712 148991712 A G snp 1567.77 0/1 99 110 51 59 0.54 ncRNA_exonic rs13236978 LOC155060 AU 0.721845 0.5833 0.6442 0.6277 Uncertain 7_148991853_G->A 7 148991853 148991853 G A snp 2397.77 0/1 99 170 71 99 0.58 ncRNA_exonic rs116246888 LOC155060 AU 0.066893 0.2044 0.0114 0.2172 Uncertain 7_149129829_C->T 7 149129829 149129829 C T snp 1052.77 0/1 99 80 41 39 0.49 exonic rs17852167 ZNF777 AU nonsynonymous SNV NM_015694 exon6 c.G1534A p.A512T 0.153554 0.1121 0.112434 0.1241 0.1219 0.01 T 0.0 P -0.945 T 0.013 T 0.003 T Pathogenic 7_149148319_T->C 7 149148319 149148319 T C snp 2968.77 1/1 99 97 0 97 1.0 intronic rs4727071 ZNF777 AU NM_015694 exon3 c.19337+116T>C 0.71226 0.8056 Uncertain 7_149152770_A->G 7 149152770 149152770 A G snp 1572.77 1/1 99 57 0 57 1.0 exonic rs3735319 ZNF777 AU nonsynonymous SNV NM_015694 exon2 c.T344C p.V115A 0.661142 0.8165 0.569289 0.6067 0.8260 0.05 T 0.0 P -1.018 T 0.002 T 0.006 T Pathogenic 7_149152906_G->A 7 149152906 149152906 G A snp 3223.52 1/1 99 121 1 120 0.99 exonic rs3735318 ZNF777 AU nonsynonymous SNV NM_015694 exon2 c.C208T p.R70W 0.604832 0.8105 0.508303 0.5774 0.8193 0.05 T 0.001 P -1.163 T 0.968 D 0.312 D Pathogenic 7_149174542_G->A 7 149174542 149174542 G A snp 1115.77 1/1 81 36 0 36 1.0 intronic rs4727073 ZNF746 AU NM_001163474 exon3 c.3180-112G>A 0.35623 0.494 Uncertain 7_149190098_T->C 7 149190098 149190098 T C snp 1066.77 0/1 99 122 69 53 0.43 intronic rs13311996 ZNF746 AU NM_001163474 exon4 c.18589+35T>C 0.145567 0.0923 0.212671 0.2439 0.0929 Uncertain 7_149191027_T->C 7 149191027 149191027 T C snp 584.77 1/1 45 16 0 16 1.0 intronic rs13236631 ZNF746 AU NM_001163474 exon5 c.19605-52T>C 0.727236 0.8343 0.660534 Uncertain 7_149191460_G->A 7 149191460 149191460 G A snp 1913.77 1/1 99 76 0 76 1.0 exonic rs112293204 ZNF746 AU synonymous SNV NM_001163474 exon2 c.C159T p.A53A 0.347843 0.5079 0.277957 0.3122 0.4883 Uncertain 7_149256086_C->T 7 149256086 149256086 C T snp 102.77 0/1 99 13 9 4 0.31 ncRNA_intronic rs1978186 ZNF767P AU 0.699481 0.6667 Uncertain 7_149317053_T->C 7 149317053 149317053 T C snp 889.77 0/1 99 57 21 36 0.63 ncRNA_exonic rs354055 ZNF767P AU 0.20607 0.37 0.086883 0.1101 0.3383 Uncertain 7_149317216_A->G 7 149317216 149317216 A G snp 883.77 0/1 99 82 45 37 0.45 ncRNA_intronic rs354056 ZNF767P AU 0.695687 0.6667 Uncertain 7_149318375_C->T 7 149318375 149318375 C T snp 175.77 0/1 99 12 6 6 0.5 ncRNA_exonic rs354058 ZNF767P AU 0.67492 0.6667 0.658894 0.6882 0.6677 Uncertain 7_149318471_C->T 7 149318471 149318471 C T snp 911.77 0/1 99 80 40 40 0.5 ncRNA_exonic rs354059 ZNF767P AU 0.202476 0.369 0.091098 0.1148 0.3559 Uncertain 7_149318681_T->C 7 149318681 149318681 T C snp 640.77 0/1 99 78 43 35 0.45 ncRNA_intronic rs354060 ZNF767P AU 0.203874 0.369 0.074735 0.1090 0.3390 Uncertain 7_149420820_-->T 7 149420820 149420820 - T indel 6022.73 1/1 99 158 0 158 1.0 splicing rs11462346 KRBA1 AU NM_032534 exon8 c.4095-4insT 0.666733 0.5407 0.720310 0.6347 0.5311 Pathogenic 7_149421631_C->T 7 149421631 149421631 C T snp 267.77 0/1 99 24 14 10 0.42 intronic rs117116060 KRBA1 AU NM_032534 exon9 c.5013-111C>T 0.00439297 0.0208 Uncertain 7_149422718_T->C 7 149422718 149422718 T C snp 294.78 1/1 24 8 0 8 1.0 intronic rs855754 KRBA1 AU NM_032534 exon10 c.5850+139T>C 0.664337 0.5407 Uncertain 7_149426305_-->C 7 149426305 149426305 - C indel 2106.73 1/1 99 53 0 53 1.0 exonic rs11424737 KRBA1 AU unknown 1 1 1.0000 0.9999 Uncertain 7_149427409_T->G 7 149427409 149427409 T G snp 5016.77 1/1 99 176 0 176 1.0 exonic rs709065 KRBA1 AU unknown 0.973442 1 0.947818 0.9542 1 1 T 0.0 P -0.967 T 0.0 T 0.0 T Uncertain 7_149428720_C->T 7 149428720 149428720 C T snp 1271.77 0/1 99 98 40 58 0.59 intronic rs61203936 KRBA1 AU NM_032534 exon16 c.12032-41C>T 0.0485224 0.1319 0.013319 0.0253 0.1572 Uncertain 7_149461487_T->G 7 149461487 149461487 T G snp 774.77 0/1 99 46 17 29 0.63 UTR3 rs73168053 ZNF467 AU 0.0728834 0.0575 Uncertain 7_149476666_-->C 7 149476666 149476666 - C indel 3031.73 1/1 99 89 0 89 1.0 splicing rs397826817 SSPO AU NM_198455 exon10 c.3536insC 1 1 0.999831 1.0000 1 Pathogenic 7_149484798_C->T 7 149484798 149484798 C T snp 860.77 0/1 99 106 67 39 0.37 exonic rs62490656 SSPO AU nonsynonymous SNV NM_198455 exon25 c.C3620T p.A1207V 0.166134 0.1518 0.166371 0.2737 0.2230 Pathogenic 7_149486574_G->C 7 149486574 149486574 G C snp 769.77 1/1 57 26 0 26 1.0 intronic rs855694 SSPO AU NM_198455 exon30 c.13356+88G>C 0.903554 0.7966 Uncertain 7_149499116_AT->- 7 149499116 149499117 AT - indel 1340.73 0/1 99 51 21 30 0.59 intronic rs61047652 SSPO AU NM_198455 exon51 c.25997-11_25997-10delAT 0.170327 0.1726 0.178689 0.3151 0.2752 Uncertain 7_149500013_C->G 7 149500013 149500013 C G snp 997.77 0/1 99 73 29 44 0.6 intronic rs2074693 SSPO AU NM_198455 exon52 c.26904-21C>G 0.430911 0.6151 0.384499 0.5892 0.7226 Uncertain 7_149500472_A->G 7 149500472 149500472 A G snp 3752.77 1/1 99 135 0 135 1.0 intronic rs10952229 SSPO AU NM_198455 exon53 c.27307+35A>G 0.846246 0.8661 0.796440 0.8362 0.8633 Uncertain 7_149500992_A->G 7 149500992 149500992 A G snp 255.77 0/1 99 19 10 9 0.47 intronic rs4725830 SSPO AU NM_198455 exon56 c.27953-91A>G 0.450879 0.2877 Uncertain 7_149502827_G->A 7 149502827 149502827 G A snp 231.77 0/1 99 20 11 9 0.45 intronic rs12668484 SSPO AU NM_198455 exon58 c.29851-154G>A 0.216054 0.1756 Uncertain 7_149503843_T->G 7 149503843 149503843 T G snp 1641.77 0/1 99 152 83 69 0.45 exonic rs10260959 SSPO AU nonsynonymous SNV NM_198455 exon59 c.T8671G p.L2891V 0.371006 0.2004 0.327657 0.2779 0.2198 Pathogenic 7_149503917_GATA->- 7 149503917 149503920 GATA - indel 3966.73 0/1 99 148 70 78 0.53 exonic rs66470151 SSPO AU frameshift deletion NM_198455 exon59 c.8745_8745del p.G2915fs 0.275359 0.1895 0.237406 0.2765 0.2680 ID=COSN160689,COSN228323;OCCURENCE=1(breast),1(skin) Pathogenic 7_149504116_C->T 7 149504116 149504116 C T snp 405.77 0/1 99 34 18 16 0.47 intronic rs4461809 SSPO AU NM_198455 exon60 c.30949+37C>T 0.282348 0.1895 0.233170 0.2482 0.2229 Uncertain 7_149504207_C->T 7 149504207 149504207 C T snp 46.77 0/1 33 3 1 2 0.67 intronic rs975017 SSPO AU NM_198455 exon60 c.30949+128C>T 0.276957 0.1895 Uncertain 7_149506211_-->C 7 149506211 149506211 - C indel 3951.73 1/1 99 95 0 95 1.0 exonic rs397815440 SSPO AU frameshift insertion NM_198455 exon63 c.9204dupC p.S3068fs 1 1 1.0000 1 Pathogenic 7_149506471_C->T 7 149506471 149506471 C T snp 398.77 0/1 99 44 25 19 0.43 splicing rs6953743 SSPO AU NM_198455 exon65 c.33346-5C>T 0.217053 0.1706 0.181577 0.2227 0.2455 Pathogenic 7_149507861_A->C 7 149507861 149507861 A C snp 912.77 0/1 99 65 33 32 0.49 intronic rs55866915 SSPO AU NM_198455 exon66 c.34872-141A>C 0.391573 0.4137 Uncertain 7_149507964_C->T 7 149507964 149507964 C T snp 1835.77 0/1 99 175 88 87 0.5 intronic rs55776327 SSPO AU NM_198455 exon66 c.34872-38C>T 0.389577 0.4097 0.361405 0.3340 0.4240 Uncertain 7_149509807_C->T 7 149509807 149509807 C T snp 725.77 0/1 99 41 17 24 0.59 intronic rs740110 SSPO AU NM_198455 exon70 c.36598+79C>T 0.433706 0.4296 Uncertain 7_149509817_G->T 7 149509817 149509817 G T snp 626.77 0/1 99 33 12 21 0.64 intronic rs740111 SSPO AU NM_198455 exon70 c.36598+89G>T 0.498203 0.4296 Uncertain 7_149510552_C->T 7 149510552 149510552 C T snp 301.77 0/1 99 14 5 9 0.64 intronic rs10252161 SSPO AU NM_198455 exon71 c.37587-165C>T 0.168131 0.1716 Uncertain 7_149511509_G->A 7 149511509 149511509 G A snp 736.77 0/1 99 82 47 35 0.43 intronic rs79503371 SSPO AU NM_198455 exon72 c.38338+41G>A 0.16254 0.1736 0.137504 0.2367 0.2590 Uncertain 7_149511985_A->G 7 149511985 149511985 A G snp 1015.77 0/1 99 107 65 42 0.39 exonic rs10952230 SSPO AU nonsynonymous SNV NM_198455 exon74 c.A10535G p.N3512S 0.870807 0.7212 0.883004 0.8620 0.7277 Pathogenic 7_149512177_C->T 7 149512177 149512177 C T snp 591.77 0/1 99 44 16 28 0.64 intronic rs11979187 SSPO AU NM_198455 exon75 c.39132-85C>T 0.21246 0.1736 Uncertain 7_149512911_A->G 7 149512911 149512911 A G snp 1973.77 0/1 99 166 80 86 0.52 intronic rs2074695 SSPO AU NM_198455 exon76 c.39743+38A>G 0.411342 0.4127 0.372153 0.3677 0.4499 Uncertain 7_149513152_C->T 7 149513152 149513152 C T snp 2312.77 0/1 99 188 88 100 0.53 exonic rs7791767 SSPO AU synonymous SNV NM_198455 exon77 c.C11055T p.R3685R 0.210663 0.1746 0.171629 0.2356 0.2290 Uncertain 7_149513288_T->C 7 149513288 149513288 T C snp 605.77 0/1 99 47 23 24 0.51 intronic rs7778489 SSPO AU NM_198455 exon77 c.40047+111T>C 0.472045 0.4127 Uncertain 7_149513395_G->T 7 149513395 149513395 G T snp 257.77 0/1 99 20 10 10 0.5 intronic rs7795784 SSPO AU NM_198455 exon78 c.40329-64G>T 0.208067 0.1736 Uncertain 7_149513560_T->C 7 149513560 149513560 T C snp 526.77 0/1 99 61 37 24 0.39 exonic rs12674102 SSPO AU synonymous SNV NM_198455 exon78 c.T11181C p.S3727S 0.397764 0.4127 0.360917 0.4245 0.4930 Uncertain 7_149513780_A->G 7 149513780 149513780 A G snp 70.77 0/1 99 12 8 4 0.33 intronic rs2074688 SSPO AU NM_198455 exon78 c.40496+154A>G 0.506789 0.4187 Uncertain 7_149514651_C->G 7 149514651 149514651 C G snp 115.77 0/1 99 8 3 5 0.63 intronic rs77636271 SSPO AU NM_198455 exon79 c.41575-54C>G 0.209265 0.1746 Uncertain 7_149515103_C->T 7 149515103 149515103 C T snp 646.77 0/1 99 61 35 26 0.43 exonic rs10250401 SSPO AU synonymous SNV NM_198455 exon80 c.C11493T p.G3831G 0.203075 0.1746 0.177427 0.1929 0.1643 Uncertain 7_149515754_A->G 7 149515754 149515754 A G snp 285.77 0/1 99 25 15 10 0.4 exonic rs740113 SSPO AU synonymous SNV NM_198455 exon83 c.A11655G p.P3885P 0.490615 0.4187 0.460026 0.3742 0.4293 Uncertain 7_149515775_C->G 7 149515775 149515775 C G snp 256.77 0/1 99 29 17 12 0.41 exonic rs1557955 SSPO AU nonsynonymous SNV NM_198455 exon83 c.C11676G p.C3892W 0.202077 0.1746 0.177293 0.1829 0.1571 Pathogenic 7_149515796_C->T 7 149515796 149515796 C T snp 522.77 0/1 99 41 20 21 0.51 exonic rs1557956 SSPO AU synonymous SNV NM_198455 exon83 c.C11697T p.P3899P 0.201278 0.1746 0.175808 0.1828 0.1580 Uncertain 7_149516486_A->G 7 149516486 149516486 A G snp 1749.77 0/1 99 150 75 75 0.5 exonic rs6464034 SSPO AU synonymous SNV NM_198455 exon84 c.A11889G p.G3963G 0.491414 0.4157 0.461185 0.3917 0.4313 Uncertain 7_149516881_G->T 7 149516881 149516881 G T snp 838.77 0/1 99 68 31 37 0.54 exonic rs1005603 SSPO AU nonsynonymous SNV NM_198455 exon85 c.G12083T p.S4028I 0.207867 0.1746 0.171502 0.2188 0.2176 Pathogenic 7_149518148_A->G 7 149518148 149518148 A G snp 1141.77 0/1 99 95 43 52 0.55 exonic rs10233245 SSPO AU nonsynonymous SNV NM_198455 exon87 c.A12491G p.H4164R 0.428914 0.4167 0.372567 0.3853 0.4587 Pathogenic 7_149518533_C->- 7 149518533 149518533 C - indel 360.73 0/1 99 31 18 13 0.42 exonic rs11353848 SSPO AU frameshift deletion NM_198455 exon88 c.12602delC p.S4201fs 0.147821 0.2004 0.2119 ID=COSN215841;OCCURENCE=1(central_nervous_system) Pathogenic 7_149518961_T->C 7 149518961 149518961 T C snp 339.77 0/1 99 60 41 19 0.32 exonic rs1008335 SSPO AU synonymous SNV NM_198455 exon90 c.T12765C p.A4255A 0.462859 0.4256 0.442495 0.4660 0.5368 Uncertain 7_149519184_C->T 7 149519184 149519184 C T snp 1000.77 0/1 99 89 45 44 0.49 exonic rs1008336 SSPO AU nonsynonymous SNV NM_198455 exon90 c.C12988T p.R4330C 0.178315 0.1736 0.161204 0.1840 0.1580 Pathogenic 7_149521117_G->A 7 149521117 149521117 G A snp 2764.77 0/1 99 250 128 122 0.49 intronic rs117686287 SSPO AU NM_198455 exon94 c.48044-57G>A 0.0153754 0.0585 0.008541 Uncertain 7_149521183_G->A 7 149521183 149521183 G A snp 2292.77 0/1 99 209 105 104 0.5 exonic rs4389841 SSPO AU nonsynonymous SNV NM_198455 exon94 c.G13523A p.R4508Q 0.148762 0.1746 0.134778 0.2053 0.1946 Pathogenic 7_149521544_C->T 7 149521544 149521544 C T snp 1964.77 0/1 99 156 66 90 0.58 exonic rs12673475 SSPO AU synonymous SNV NM_198455 exon95 c.C13623T p.S4541S 0.164936 0.1736 0.151139 0.1845 0.1631 Uncertain 7_149522162_G->T 7 149522162 149522162 G T snp 1286.77 0/1 99 109 58 51 0.47 exonic rs62617122 SSPO AU nonsynonymous SNV NM_198455 exon96 c.G13949T p.C4650F 0.168331 0.1746 0.154609 0.1855 0.1656 Pathogenic 7_149522366_T->G 7 149522366 149522366 T G snp 2688.77 0/1 99 250 132 118 0.47 splicing rs2074697 SSPO AU NM_198455 exon98 c.49238-2T>G 0.494609 0.4296 0.472467 0.3827 0.4360 Pathogenic 7_149523277_A->G 7 149523277 149523277 A G snp 2020.77 0/1 99 188 100 88 0.47 exonic rs1004200 SSPO AU nonsynonymous SNV NM_198455 exon101 c.A14360G p.H4787R 0.448882 0.4286 0.429356 0.3698 0.4322 Pathogenic 7_149528262_C->T 7 149528262 149528262 C T snp 2709.77 0/1 99 198 86 112 0.57 exonic rs10261977 SSPO AU stopgain NM_198455 exon108 c.C15178T p.R5060X 0.186502 0.1736 0.174614 0.1828 0.1628 Pathogenic 7_149528392_C->T 7 149528392 149528392 C T snp 2221.77 0/1 99 189 93 96 0.51 intronic rs10262226 SSPO AU NM_198455 exon108 c.55224+38C>T 0.176717 0.1736 0.160579 0.1722 0.1558 Uncertain 7_149530894_G->A 7 149530894 149530894 G A snp 1976.77 0/1 99 142 61 81 0.57 intronic rs6960187 SSPO AU NM_198455 exon110 c.57770-6G>A 0.322085 0.1766 0.321588 0.2539 0.1559 Uncertain 7_149588262_T->C 7 149588262 149588262 T C snp 218.77 0/1 49 112 75 37 0.33 intergenic ATP6V0E2 AU Uncertain 7_149589343_G->A 7 149589343 149589343 G A snp 1695.77 1/1 99 76 0 76 1.0 intergenic rs2626759 ATP6V0E2 AU 0.992612 1 Uncertain 7_149589496_-->C 7 149589496 149589496 - C indel 5405.73 1/1 99 125 2 123 0.98 intergenic rs11428600 ATP6V0E2 AU 0.617612 0.7907 Uncertain 7_149589599_C->A 7 149589599 149589599 C A snp 769.77 1/1 57 26 0 26 1.0 intergenic rs4725318 ATP6V0E2 AU 0.636182 0.7937 Uncertain 7_149589663_A->G 7 149589663 149589663 A G snp 54.74 1/1 6 2 0 2 1.0 intergenic rs200273024 ATP6V0E2 AU 0.334665 0.4772 Uncertain 7_149589668_T->C 7 149589668 149589668 T C snp 53.74 1/1 6 2 0 2 1.0 intergenic rs2626761 ATP6V0E2 AU 0.308706 0.381 Uncertain 7_149744835_C->T 7 149744835 149744835 C T snp 520.77 0/1 99 62 36 26 0.42 intergenic rs141816877 ATP6V0E2 AU 0.378994 0.6766 Uncertain 7_149981830_T->G 7 149981830 149981830 T G snp 3723.77 1/1 99 152 1 151 0.99 intronic rs4725334 ACTR3C AU NM_001164459 exon3 c.35767-11T>G 0.926717 0.9841 0.8676 0.9887 Uncertain 7_149990080_C->T 7 149990080 149990080 C T snp 796.77 0/1 99 184 130 54 0.29 intronic rs62502655 ACTR3C AU NM_001164459 exon6 c.44326-320C>T Uncertain 7_150020526_C->T 7 150020526 150020526 C T snp 236.77 0/1 99 18 8 10 0.56 UTR5 rs3735173 LRRC61 AU 0.327476 0.4058 0.4372 0.5312 Uncertain 7_150033882_A->G 7 150033882 150033882 A G snp 281.77 0/1 99 33 21 12 0.36 UTR5 rs3735171 LRRC61 AU 0.284744 0.2907 Uncertain 7_150034184_T->C 7 150034184 150034184 T C snp 2527.77 0/1 99 250 145 105 0.42 exonic rs3735170 LRRC61 AU synonymous SNV NM_023942 exon2 c.T234C p.A78A 0.258586 0.2907 0.249923 0.2506 0.2904 Uncertain 7_150034378_A->G 7 150034378 150034378 A G snp 2866.77 0/1 99 250 133 117 0.47 exonic rs3735169 LRRC61 AU nonsynonymous SNV NM_023942 exon2 c.A428G p.N143S 0.258387 0.2897 0.251730 0.2499 0.2871 0.47 T 0.000 P -0.904 T 0.0 T 0.0 T Pathogenic 7_150035459_T->G 7 150035459 150035459 T G snp 1315.77 0/1 99 97 42 55 0.57 UTR3 rs1047586 RARRES2 AU 0.258586 0.2788 0.2816 0.2699 0.07 T 0.0 P -1.026 T Uncertain 7_150035500_C->G 7 150035500 150035500 C G snp 1238.77 0/1 99 91 40 51 0.56 UTR3 rs1047575 RARRES2 AU 0.258586 0.2768 0.2857 0.3008 0.14 T 0.0 P -0.989 T Uncertain 7_150035526_T->G 7 150035526 150035526 T G snp 2112.77 1/1 99 69 0 69 1.0 UTR3 rs4721 RARRES2 AU 0.478634 0.4593 0.4998 0.4921 0.05 T 0.0 P -0.953 T Uncertain 7_150037660_A->G 7 150037660 150037660 A G snp 1759.77 1/1 99 66 0 66 1.0 exonic rs1047207 RARRES2 AU synonymous SNV NM_002889 exon2 c.T39C p.G13G 0.369609 0.3204 0.344018 0.3853 0.4114 Uncertain 7_150066008_T->C 7 150066008 150066008 T C snp 146.03 1/1 12 6 0 6 1.0 UTR5 rs3735166 REPIN1 AU 0.378994 0.4712 0 . 0 D 0.000 P -0.959 T Uncertain 7_150066900_A->G 7 150066900 150066900 A G snp 998.77 0/1 99 89 45 44 0.49 exonic rs10237887 REPIN1 AU nonsynonymous SNV NM_001099695 exon2 c.A100G p.R34G 0.0792732 0.0516 0.053205 0.0411 0.0454 0.11 T 0.000 P -0.946 T 0.0 T 0.0 T Pathogenic 7_150067640_A->C 7 150067640 150067640 A C snp 174.9 1/1 15 5 0 5 1.0 intronic rs3757425 REPIN1 AU NM_001099695 exon3 c.1516-676A>C 0.380391 0.4673 Uncertain 7_150067679_C->A 7 150067679 150067679 C A snp 556.77 1/1 42 18 0 18 1.0 intronic rs3757424 REPIN1 AU NM_001099695 exon3 c.1516-637C>A 0.380391 0.4673 Uncertain 7_150067714_C->T 7 150067714 150067714 C T snp 1193.77 1/1 87 43 0 43 1.0 intronic rs3757423 REPIN1 AU NM_001099695 exon3 c.1516-602C>T 0.38099 0.4673 Uncertain 7_150068371_T->C 7 150068371 150068371 T C snp 6374.77 1/1 99 237 0 237 1.0 exonic rs3735165 REPIN1 AU nonsynonymous SNV NM_014374 exon1 c.T41C p.L14P 0.432109 0.4673 0.373285 0.4440 0.5471 0.1 T 1.000 P -0.947 T 0.0 T 0.0 T Pathogenic 7_150068605_G->A 7 150068605 150068605 G A snp 1419.77 0/1 99 128 74 54 0.42 exonic rs17173702 REPIN1 AU nonsynonymous SNV NM_014374 exon1 c.G275A p.R92H 0.232428 0.3988 0.195796 0.2671 0.4233 0 D 0.001 P -0.982 T 0.021 T 0.012 T Pathogenic 7_150068620_C->T 7 150068620 150068620 C T snp 1709.77 0/1 99 137 75 62 0.45 exonic rs17173703 REPIN1 AU nonsynonymous SNV NM_014374 exon1 c.C290T p.A97V 0.232428 0.3988 0.192271 0.2643 0.4183 0.1 T 0.435 P -0.917 T 0.645 T 0.533 P Pathogenic 7_150068933_T->C 7 150068933 150068933 T C snp 4583.77 1/1 99 145 0 145 1.0 exonic rs6722 REPIN1 AU synonymous SNV NM_014374 exon1 c.T603C p.A201A 0.415735 0.4673 0.349275 0.3849 0.5116 Uncertain 7_150069396_CCGCCAGGGGCC->- 7 150069396 150069407 CCGCCAGGGGCC - indel 3078.73 0/1 99 54 25 29 0.54 exonic rs3832490 REPIN1 AU nonframeshift deletion NM_014374 exon1 c.1066_1077del p.356_359del 0.142572 0.0724 0.103035 0.1658 0.0676 ID=COSM1622543,COSM247002;OCCURENCE=1(prostate),1(liver) Uncertain 7_150093701_A->C 7 150093701 150093701 A C snp 1015.77 0/1 99 66 25 41 0.62 exonic rs940453 ZNF775 AU synonymous SNV NM_173680 exon3 c.A132C p.I44I 0.839058 0.7847 0.905986 0.8742 0.7965 Uncertain 7_150094853_G->A 7 150094853 150094853 G A snp 1281.77 0/1 99 97 45 52 0.54 exonic rs7780011 ZNF775 AU synonymous SNV NM_173680 exon3 c.G1284A p.T428T 0.457867 0.3115 0.456179 0.4733 0.3493 Uncertain 7_150217248_A->G 7 150217248 150217248 A G snp 2158.77 0/1 99 199 104 95 0.48 exonic rs3735081 GIMAP7 AU synonymous SNV NM_153236 exon2 c.A186G p.V62V 0.78155 0.7421 0.723358 0.6926 0.7175 Uncertain 7_150217309_C->T 7 150217309 150217309 C T snp 1687.77 0/1 99 177 109 68 0.38 exonic rs3735080 GIMAP7 AU nonsynonymous SNV NM_153236 exon2 c.C247T p.R83C 0.169529 0.1587 0.167538 0.2253 0.1542 0 D 0.0 P -0.984 T 1.0 D 0.949 D Pathogenic 7_150218008_TAGT->- 7 150218008 150218011 TAGT - indel 439.73 0/1 99 27 18 9 0.33 UTR3 rs141933762 GIMAP7 AU 0.213259 0.1587 0.211965 0.2460 0.1601 Uncertain 7_150266835_G->A 7 150266835 150266835 G A snp 634.77 0/1 99 46 24 22 0.48 intronic rs11769703 GIMAP4 AU 0.201078 0.1954 Uncertain 7_150269542_G->T 7 150269542 150269542 G T snp 2365.77 0/1 99 212 117 95 0.45 exonic rs2293172 GIMAP4 AU nonsynonymous SNV NM_018326 exon3 c.G384T p.E128D 0.136781 0.2173 0.130786 0.1469 0.2158 0.29 T 0.000 P -1.108 T 0.039 T 0.02 T Pathogenic 7_150325175_C->T 7 150325175 150325175 C T snp 3458.77 0/1 99 250 115 135 0.54 exonic rs13234724 GIMAP6 AU nonsynonymous SNV NM_001244072 exon3 c.G721A p.G241S 0.179712 0.1944 0.164309 0.2135 0.1828 0.6 T 0.000 P -0.950 T 0.969 D 0.347 D Pathogenic 7_150327024_C->T 7 150327024 150327024 C T snp 90.28 1/1 9 3 0 3 1.0 intronic rs3735082 GIMAP6 AU NM_001244071 exon2 c.1873-121C>T 0.402756 0.503 Uncertain 7_150384048_A->G 7 150384048 150384048 A G snp 166.9 1/1 15 7 1 6 0.86 intronic rs112828849 GIMAP2 AU Uncertain 7_150384194_GTGTGT->- 7 150384194 150384199 GTGTGT - indel 3456.73 ./1 99 46 0 46 1.0 intronic GIMAP2 AU NM_015660 exon2 c.28+19_28+24delGTGTGT Uncertain 7_150384194_GTGTGTGTGTGTGTGTGTGTGT->- 7 150384194 150384215 GTGTGTGTGTGTGTGTGTGTGT - indel 3456.73 ./1 99 46 0 46 1.0 intronic rs777763842 GIMAP2 AU NM_015660 exon2 c.28+19_28+40delGTGTGTGTGTGTGTGTGTGTGT 0.070080 0.1118 0.0533 Uncertain 7_150389340_A->- 7 150389340 150389340 A - indel 639.73 0/1 99 43 18 25 0.58 intronic GIMAP2 AU NM_015660 exon3 c.5255-62delA Uncertain 7_150389677_G->C 7 150389677 150389677 G C snp 1385.77 0/1 99 132 75 57 0.43 exonic rs6952002 GIMAP2 AU synonymous SNV NM_015660 exon3 c.G303C p.L101L 0.490216 0.2907 0.485238 0.3827 0.3017 Uncertain 7_150390255_T->C 7 150390255 150390255 T C snp 499.77 0/1 99 62 39 23 0.37 exonic rs115945256 GIMAP2 AU nonsynonymous SNV NM_015660 exon3 c.T881C p.M294T 0.00479233 0.004 0.004459 0.0018 0.0037 0 D 1 N -0.970 T 0.001 T 0.001 T Pathogenic 7_150416051_GTGGTTATGCCTATTT->- 7 150416051 150416066 GTGGTTATGCCTATTT - indel 2160.73 0/1 99 23 9 14 0.61 intronic rs398006755 GIMAP1 AU 0.577276 0.5218 Uncertain 7_150417641_C->T 7 150417641 150417641 C T snp 2271.77 0/1 99 218 115 103 0.47 exonic rs183378432 GIMAP1 AU synonymous SNV NM_130759 exon3 c.C549T p.G183G 0.000599042 0.003 0.0002 0.0029 Uncertain 7_150437927_C->T 7 150437927 150437927 C T snp 743.77 0/1 99 54 25 29 0.54 intronic rs9657894 GIMAP1-GIMAP5 AU NM_001199577 exon5 c.21831-39C>T 0.389976 0.3016 0.387821 0.3336 0.2711 Uncertain 7_150438089_T->C 7 150438089 150438089 T C snp 2575.77 0/1 99 238 120 118 0.5 intronic rs4725936 GIMAP1-GIMAP5 AU NM_001199577 exon5 c.21880+74T>C 0.545327 0.381 0.524748 Uncertain 7_150438161_T->G 7 150438161 150438161 T G snp 1315.77 0/1 99 106 56 50 0.47 intronic rs9657898 GIMAP1-GIMAP5 AU NM_001199577 exon5 c.21880+146T>G 0.405551 0.3006 Uncertain 7_150439500_C->T 7 150439500 150439500 C T snp 2900.77 0/1 99 248 130 118 0.48 exonic rs759011 GIMAP1-GIMAP5 AU synonymous SNV NM_018384 exon3 c.C273T p.A91A 0.389976 0.3006 0.388052 0.3343 0.2725 Uncertain 7_150440043_C->T 7 150440043 150440043 C T snp 2078.77 0/1 99 158 75 83 0.53 exonic rs1046355 GIMAP1-GIMAP5 AU synonymous SNV NM_018384 exon3 c.C816T p.L272L 0.35024 0.3006 0.382285 0.3166 0.2723 Uncertain 7_150440243_G->C 7 150440243 150440243 G C snp 556.77 0/1 99 38 19 19 0.5 UTR3 rs10361 GIMAP1-GIMAP5 AU 0.355032 0.3006 Uncertain 7_150446692_C->T 7 150446692 150446692 C T snp 774.77 0/1 99 63 35 28 0.44 intergenic rs9969243 GIMAP1-GIMAP5 AU 0.231829 0.2788 Uncertain 7_150446936_A->G 7 150446936 150446936 A G snp 1931.77 0/1 99 123 49 74 0.6 intergenic rs2058447 GIMAP1-GIMAP5 AU 0.543131 0.3671 0.525624 0.4952 0.3909 Uncertain 7_150447027_T->G 7 150447027 150447027 T G snp 546.77 0/1 99 52 29 23 0.44 intergenic rs28505524 GIMAP1-GIMAP5 AU 0.161741 0.2629 0.146956 0.2328 0.3810 Uncertain 7_150487961_G->A 7 150487961 150487961 G A snp 259.77 0/1 99 16 7 9 0.56 downstream rs3757410 TMEM176B AU 0.190895 0.1935 Uncertain 7_150488616_A->G 7 150488616 150488616 A G snp 102.77 0/1 99 12 7 5 0.42 UTR3 rs2302479 TMEM176B AU 0.647764 0.626 0.649931 0.5920 0.6183 Uncertain 7_150489373_C->G 7 150489373 150489373 C G snp 322.77 0/1 99 30 18 12 0.4 intronic rs58004396 TMEM176B AU NM_001101311 exon2 c.645+110C>G 0.107428 0.0833 Uncertain 7_150490075_T->C 7 150490075 150490075 T C snp 437.77 0/1 42 18 2 16 0.89 intronic rs10215370 TMEM176B AU NM_001101311 exon3 c.1557-100T>C 0.130391 0.0823 Uncertain 7_150490130_A->C 7 150490130 150490130 A C snp 742.77 0/1 99 50 20 30 0.6 intronic rs10215721 TMEM176B AU NM_001101311 exon3 c.1557-45A>C 0.126398 0.0833 0.163079 0.1384 0.0773 Uncertain 7_150490424_T->A 7 150490424 150490424 T A snp 601.77 0/1 99 67 40 27 0.4 intronic rs10215381 TMEM176B AU NM_001101311 exon3 c.1785+21T>A 0.130192 0.0823 0.166000 0.1451 0.0827 Uncertain 7_150490431_C->G 7 150490431 150490431 C G snp 537.77 0/1 99 55 32 23 0.42 intronic rs2072442 TMEM176B AU NM_001101311 exon3 c.1785+28C>G 0.53774 0.6101 0.547978 0.5648 0.6179 Uncertain 7_150490436_C->T 7 150490436 150490436 C T snp 505.77 0/1 99 52 30 22 0.42 intronic rs10215048 TMEM176B AU NM_001101311 exon3 c.1785+33C>T 0.124401 0.0823 0.151853 0.1531 0.0972 Uncertain 7_150490467_G->A 7 150490467 150490467 G A snp 377.77 0/1 99 34 20 14 0.41 intronic rs191374911 TMEM176B AU NM_001101311 exon3 c.1785+64G>A 0.00179712 0.0089 Uncertain 7_150490475_T->C 7 150490475 150490475 T C snp 324.77 0/1 99 29 17 12 0.41 intronic rs10215382 TMEM176B AU NM_001101311 exon3 c.1785+72T>C 0.130192 0.0823 Uncertain 7_150490497_T->C 7 150490497 150490497 T C snp 287.77 0/1 99 26 16 10 0.38 intronic rs10215385 TMEM176B AU NM_001101311 exon3 c.1785+94T>C 0.130192 0.0823 Uncertain 7_150491084_T->G 7 150491084 150491084 T G snp 3336.77 0/1 99 250 115 135 0.54 exonic rs3173833 TMEM176B AU nonsynonymous SNV NM_001101311 exon3 c.A280C p.S94R 0.544129 0.6111 0.554744 0.5589 0.6084 0.45 T 0.0 P -1.052 T 0.0 T 0.001 T Pathogenic 7_150491776_C->- 7 150491776 150491776 C - indel 415.73 0/1 99 36 21 15 0.42 intronic rs139123517 TMEM176B AU NM_001101311 exon5 c.2541+617delC 0.11262 0.0843 Uncertain 7_150491889_C->A 7 150491889 150491889 C A snp 1529.77 0/1 99 134 71 63 0.47 intronic rs78848552 TMEM176B AU NM_001101311 exon5 c.2541+730C>A 0.00459265 0.0188 Uncertain 7_150491996_CACACACA->- 7 150491996 150492003 CACACACA - indel 2505.73 0/1 99 74 14 60 0.81 intronic rs145375921 TMEM176B AU NM_001101311 exon5 c.2541+837_2541+844delCACACACA Uncertain 7_150493442_C->G 7 150493442 150493442 C G snp 1471.77 1/1 99 53 0 53 1.0 intronic rs2075080 TMEM176B AU NM_001101311 exon6 c.4835-11C>G 0.343251 0.2788 0.364217 0.3353 0.2877 Uncertain 7_150493750_C->T 7 150493750 150493750 C T snp 77.77 0/1 99 6 3 3 0.5 intronic rs62490424 TMEM176B AU NM_001101311 exon6 c.5047+85C>T 0.0850639 0.0754 Uncertain 7_150498508_G->T 7 150498508 150498508 G T snp 1523.77 1/1 99 46 0 46 1.0 intronic rs1108578 TMEM176A AU 0.340855 0.631 Uncertain 7_150498836_C->G 7 150498836 150498836 C G snp 673.77 1/1 51 19 0 19 1.0 intronic rs2075079 TMEM176A AU NM_018487 exon2 c.174+24C>G 0.736422 0.7599 0.744886 0.7648 0.8482 Uncertain 7_150500356_T->C 7 150500356 150500356 T C snp 2456.77 1/1 99 93 0 93 1.0 intronic rs741068 TMEM176A AU NM_018487 exon4 c.1849-131T>C 0.699281 0.7232 Uncertain 7_150500455_A->G 7 150500455 150500455 A G snp 2844.77 1/1 99 98 0 98 1.0 intronic rs741067 TMEM176A AU NM_018487 exon4 c.1849-32A>G 0.74381 0.7599 0.698754 0.6997 0.7967 Uncertain 7_150500576_A->G 7 150500576 150500576 A G snp 839.77 1/1 63 25 0 25 1.0 intronic rs741065 TMEM176A AU NM_018487 exon4 c.1906+32A>G 0.355631 0.6379 0.212364 0.2699 0.6603 Uncertain 7_150500729_A->G 7 150500729 150500729 A G snp 1306.77 1/1 93 45 0 45 1.0 exonic rs741064 TMEM176A AU nonsynonymous SNV NM_018487 exon5 c.A364G p.T122A 0.90016 0.9365 0.849839 0.8397 0.9490 0.53 T 0.0 P -1.083 T 0.0 T 0.0 T Pathogenic 7_150501516_A->G 7 150501516 150501516 A G snp 3613.77 1/1 99 129 0 129 1.0 exonic rs9088 TMEM176A AU nonsynonymous SNV NM_018487 exon6 c.A622G p.T208A 0.742612 0.7599 0.697524 0.7000 0.7957 1 T 0.0 P -0.989 T 0.0 T 0.001 T Pathogenic 7_150501635_C->T 7 150501635 150501635 C T snp 2045.77 1/1 99 73 1 72 0.99 intronic rs12112782 TMEM176A AU NM_018487 exon6 c.2922+75C>T 0.283347 0.5565 Uncertain 7_150554887_G->A 7 150554887 150554887 G A snp 5603.77 1/1 99 192 0 192 1.0 exonic rs2071514 AOC1 AU synonymous SNV NM_001091 exon2 c.G1329A p.A443A 0.300319 0.4444 0.186537 0.2487 0.4698 Uncertain 7_150555915_A->G 7 150555915 150555915 A G snp 4402.77 1/1 99 162 0 162 1.0 exonic rs10893 AOC1 AU synonymous SNV NM_001091 exon3 c.A1635G p.P545P 0.459065 0.4792 0.357097 0.3752 0.5138 Uncertain 7_150556002_T->C 7 150556002 150556002 T C snp 4440.77 1/1 99 159 0 159 1.0 exonic rs1049748 AOC1 AU synonymous SNV NM_001091 exon3 c.T1722C p.P574P 0.515775 0.5605 0.443993 0.4639 0.5937 Uncertain 7_150556055_C->G 7 150556055 150556055 C G snp 3186.77 1/1 99 112 0 112 1.0 exonic rs6943147 AOC1 AU nonsynonymous SNV NM_001091 exon3 c.C1775G p.T592R 1 1 1.0000 1 0.11 T 0.000 P -0.986 T 0.001 T 0.007 T Pathogenic 7_150556056_G->C 7 150556056 150556056 G C snp 3195.8 1/1 99 113 0 113 1.0 exonic rs6943420 AOC1 AU synonymous SNV NM_001091 exon3 c.G1776C p.T592T 1 1 1 1 Uncertain 7_150556992_C->T 7 150556992 150556992 C T snp 437.77 1/1 33 14 0 14 1.0 intronic rs10952294 AOC1 AU NM_001272072 exon4 c.3973-539C>T 0.452476 0.4782 Uncertain 7_150557471_G->C 7 150557471 150557471 G C snp 2057.77 1/1 99 72 0 72 1.0 intronic rs2071515 AOC1 AU NM_001272072 exon4 c.3973-60G>C 0.455671 0.4802 Uncertain 7_150557622_G->A 7 150557622 150557622 G A snp 4556.77 1/1 99 173 0 173 1.0 exonic rs12179 AOC1 AU synonymous SNV NM_001091 exon4 c.G1890A p.S630S 0.453275 0.4802 0.359542 0.3700 0.5130 Uncertain 7_150557665_C->G 7 150557665 150557665 C G snp 4339.77 1/1 99 159 0 159 1.0 exonic rs1049793 AOC1 AU nonsynonymous SNV NM_001091 exon4 c.C1933G p.H645D 0.453275 0.4792 0.354844 0.3697 0.5134 1 T 0.019 P -0.942 T 0.0 T 0.001 T ID=CM073993;DIS=Reduced activity;TAG=FP;PUB=17700358 FP Pathogenic 7_150557748_G->A 7 150557748 150557748 G A snp 2212.77 1/1 99 80 0 80 1.0 intronic rs3735076 AOC1 AU NM_001091 exon4 c.4163+27G>A 0.454073 0.4802 0.350916 0.3691 0.5136 Uncertain 7_150558399_G->A 7 150558399 150558399 G A snp 2715.77 1/1 99 82 0 82 1.0 downstream rs2071517 AOC1 AU 0.316494 0.4583 Uncertain 7_150558444_-->CA 7 150558444 150558444 - CA indel 584.73 1/1 42 23 0 23 1.0 downstream rs34090933 AOC1 AU 0.628395 0.5754 Uncertain 7_150644394_C->T 7 150644394 150644394 C T snp 920.77 1/1 66 34 0 34 1.0 intronic rs3815459 KCNH2 AU,AD NM_000238 exon3 c.1963-21C>T 0.385583 0.6786 0.193824 0.3770 0.7213 Uncertain 7_150645682_G->A 7 150645682 150645682 G A snp 4901.77 1/1 99 196 0 196 1.0 intronic rs2968860 KCNH2 AU,AD NM_000238 exon5 c.3179+51G>A 0.709465 0.878 0.616792 0.6225 0.9005 Uncertain 7_150647569_T->C 7 150647569 150647569 T C snp 180.9 1/1 15 5 0 5 1.0 intronic rs4725983 KCNH2 AU,AD NM_001204798 exon1 c.522+61T>C 0.754992 0.878 Uncertain 7_150648198_A->G 7 150648198 150648198 A G snp 3712.77 1/1 99 140 0 140 1.0 exonic rs1137617 KCNH2 AU,AD synonymous SNV NM_172057 exon4 c.T936C p.Y312Y 0.772165 0.8819 0.690451 0.6658 0.9048 Uncertain 7_150648789_T->C 7 150648789 150648789 T C snp 4840.77 1/1 99 181 0 181 1.0 exonic rs1805121 KCNH2 AU,AD synonymous SNV NM_172057 exon3 c.A672G p.L224L 0.608427 0.8343 0.489390 0.4786 0.8677 Uncertain 7_150648986_G->C 7 150648986 150648986 G C snp 1174.77 1/1 87 41 0 41 1.0 intronic rs2072411 KCNH2 AU,AD NM_001204798 exon3 c.1937+63G>C 0.431709 0.6766 Uncertain 7_150649531_G->A 7 150649531 150649531 G A snp 3650.77 1/1 99 123 0 123 1.0 exonic rs1805120 KCNH2 AU,AD synonymous SNV NM_172057 exon2 c.C519T p.F173F 0.341653 0.622 0.226357 0.2935 0.6622 CLINSIG=non-pathogenic;CLNDBN=Cardiac_arrhythmia;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000030100.1;CLNDSDB=MedGen:OMIM;CLNDSDBID=C0003811:115000 Uncertain 7_150649603_G->A 7 150649603 150649603 G A snp 7453.77 1/1 99 250 0 250 1.0 exonic rs740952 KCNH2 AU,AD synonymous SNV NM_172057 exon2 c.C447T p.I149I 0.342652 0.6131 0.230201 0.2929 0.6589 Uncertain 7_150652286_C->G 7 150652286 150652286 C G snp 104.28 1/1 9 6 0 6 1.0 intronic rs887586 KCNH2 AU,AD NM_001204798 exon5 c.5497-197C>G 0.752196 0.873 Uncertain 7_150654622_-->G 7 150654622 150654622 - G indel 422.73 1/1 33 12 0 12 1.0 intronic rs11462566 KCNH2 AU,AD NM_000238 exon11 c.12138+32insG 1 1 1.0000 1 Uncertain 7_150655624_T->C 7 150655624 150655624 T C snp 709.77 1/1 51 25 0 25 1.0 intronic rs758891 KCNH2 AU,AD NM_000238 exon12 c.13138+34T>C 0.501797 0.7649 0.288896 0.4153 0.8519 Uncertain 7_150655643_G->A 7 150655643 150655643 G A snp 667.77 1/1 48 24 0 24 1.0 intronic rs758890 KCNH2 AU,AD NM_000238 exon12 c.13138+53G>A 0.4998 0.7649 Uncertain 7_150672162_-->C 7 150672162 150672162 - C indel 317.74 1/1 27 10 0 10 1.0 intronic rs397781507 KCNH2 AU,AD NM_000238 exon14 c.29577+133insC 1 1 Uncertain 7_150695726_T->C 7 150695726 150695726 T C snp 2515.77 1/1 99 89 0 89 1.0 exonic rs1549758 NOS3 AU,AD,AO synonymous SNV NM_000603 exon7 c.T774C p.D258D 0.817692 0.8135 0.755387 0.7701 0.8305 Uncertain 7_150696008_A->G 7 150696008 150696008 A G snp 567.77 0/1 99 51 26 25 0.49 intronic rs1007311 NOS3 AU,AD,AO NM_001160110 exon7 c.5142-25A>G 0.459065 0.4633 0.479920 0.4456 0.5254 Uncertain 7_150696111_T->G 7 150696111 150696111 T G snp 3249.77 1/1 99 122 0 122 1.0 exonic rs1799983 NOS3 AU,AD,AO nonsynonymous SNV NM_000603 exon8 c.T894G p.D298E 0.823682 0.87 0.746613 0.7530 0.8966 1 T 0.000 P -0.957 T 0.0 T 0.001 T CLINSIG=other|other|other|pathogenic|other|other;CLNDBN=Coronary_artery_spasm_1\x2c_susceptibility_to|Alzheimer_disease\x2c_late-onset\x2c_susceptibility_to|Hypertension\x2c_pregnancy-induced\x2c_susceptibility_to|Hypertension_resistant_to_conventional_therapy|Ischemic_heart_disease\x2c_susceptibility_to|Ischemic_stroke\x2c_susceptibility_to;CLNREVSTAT=no_assertion_criteria_provided|no_assertion_criteria_provided|no_assertion_criteria_provided|no_assertion_criteria_provided|no_assertion_criteria_provided|no_assertion_criteria_provided;CLNACC=RCV000015053.2|RCV000015054.2|RCV000015055.2|RCV000015056.25|RCV000015057.2|RCV000015058.2;CLNDSDB=MedGen|MedGen|MedGen|MedGen|.|.;CLNDSDBID=C3149657|C1834153|C1834154|C1834155|.|. ID=CM981388;DIS=Coronary spasm, association with;TAG=DFP;PUB=9737779 DFP Pathogenic 7_150698879_A->G 7 150698879 150698879 A G snp 2025.77 1/1 99 71 0 71 1.0 intronic rs1800780 NOS3 AU,AD,AO NM_001160110 exon12 c.8017-29A>G 0.569489 0.5942 0.551207 0.5722 0.6127 Uncertain 7_150700515_T->G 7 150700515 150700515 T G snp 409.77 0/1 99 40 22 18 0.45 intronic rs2566508 NOS3 AU,AD,AO NM_001160110 exon14 c.9507+117T>G 0.222045 0.3006 0.3442 0.41 Uncertain 7_150703915_G->T 7 150703915 150703915 G T snp 464.77 1/1 36 17 0 17 1.0 intronic rs2853796 NOS3 AU,AD,AO NM_000603 exon16 c.13085-61G>T 0.524561 0.5913 Uncertain 7_150704250_C->G 7 150704250 150704250 C G snp 2706.77 0/1 99 237 119 118 0.5 exonic rs2566514 NOS3 AU,AD,AO synonymous SNV NM_000603 exon17 c.C1998G p.A666A 0.43131 0.3909 0.333154 0.3414 0.3639 Uncertain 7_150706383_C->A 7 150706383 150706383 C A snp 2950.77 1/1 99 119 4 115 0.97 intronic rs753482 NOS3 AU,AD,AO NM_000603 exon19 c.15464+28C>A 0.814297 0.9454 0.757730 0.8389 0.9668 Uncertain 7_150706436_-->C 7 150706436 150706436 - C indel 593.73 0/1 99 76 35 41 0.54 intronic rs142498418 NOS3 AU,AD,AO NM_000603 exon20 c.15594-49insC 0.463858 0.4484 0.447869 0.5325 0.4387 Uncertain 7_150707488_C->T 7 150707488 150707488 C T snp 233.77 0/1 99 14 5 9 0.64 intronic rs743507 NOS3 AU,AD,AO NM_000603 exon21 c.16484+113C>T 0.772963 0.7986 Uncertain 7_150708089_A->G 7 150708089 150708089 A G snp 2034.77 1/1 99 75 0 75 1.0 intronic rs891512 NOS3 AU,AD,AO NM_000603 exon23 c.17183+15A>G 0.888379 0.9454 0.839228 0.8441 0.9649 Uncertain 7_150708850_G->A 7 150708850 150708850 G A snp 195.77 0/1 99 19 9 10 0.53 intronic rs2256314 NOS3 AU,AD,AO NM_000603 exon24 c.18547-588G>A 0.744808 0.7937 0.8132 0.8098 Uncertain 7_150709571_G->T 7 150709571 150709571 G T snp 581.77 0/1 99 73 41 32 0.44 UTR3 rs7830 ATG9B AU 0.361821 0.4117 0.288450 0.3779 0.3863 Uncertain 7_150713636_G->C 7 150713636 150713636 G C snp 770.77 0/1 99 106 68 38 0.36 intronic rs3800787 ATG9B AU NM_173681 exon7 c.632+21G>C 0.342851 0.4187 0.3794 0.3966 Uncertain 7_150713740_T->C 7 150713740 150713740 T C snp 67.77 0/1 96 13 9 4 0.31 intronic rs3800788 ATG9B AU NM_173681 exon8 c.792-35T>C 0.25619 0.3899 0.1838 0.2918 Uncertain 7_150713902_-->C 7 150713902 150713902 - C indel 966.73 1/1 72 24 0 24 1.0 exonic rs11393607 ATG9B AU unknown 1 1 1 1 Uncertain 7_150715817_A->G 7 150715817 150715817 A G snp 3885.77 1/1 99 133 0 133 1.0 exonic rs1835428 ATG9B AU unknown 0.820687 0.8284 0.818309 0.8008 0.8698 Uncertain 7_150715947_T->C 7 150715947 150715947 T C snp 1412.77 0/1 99 98 44 54 0.55 exonic rs7804893 ATG9B AU unknown 0.169728 0.1597 0.2071 0.5 0 D -1.110 T 1.0 D 1.0 D Uncertain 7_150718522_C->G 7 150718522 150718522 C G snp 193.8 0/1 21 7 1 6 0.86 intronic rs12539718 ATG9B AU NM_173681 exon13 c.5433+106C>G 0.337859 0.4494 Uncertain 7_150720308_G->T 7 150720308 150720308 G T snp 806.77 0/1 99 80 47 33 0.41 intronic rs12666075 ATG9B AU NM_173681 exon14 c.7310+15G>T 0.248203 0.4425 0.165837 0.2232 0.4161 Uncertain 7_150720902_A->G 7 150720902 150720902 A G snp 7299.77 1/1 99 250 0 250 1.0 intronic rs13307588 ATG9B AU NM_173681 exon17 c.7977-58A>G 0.974441 1 Uncertain 7_150725722_A->C 7 150725722 150725722 A C snp 1165.77 0/1 99 83 39 44 0.53 intronic rs2303922 ABCB8 AU NM_007188 exon1 c.95+25A>C 0.381989 0.3016 0.408832 0.3707 0.3174 Uncertain 7_150731338_G->C 7 150731338 150731338 G C snp 1823.77 1/1 99 50 0 50 1.0 intronic rs2303923 ABCB8 AU NM_007188 exon3 c.5757-21G>C 0.736222 0.7034 0.713132 0.6705 0.7056 Uncertain 7_150731698_C->T 7 150731698 150731698 C T snp 1771.77 0/1 99 154 77 77 0.5 intronic rs2303924 ABCB8 AU NM_007188 exon4 c.6084+12C>T 0.13119 0.2619 0.105336 0.1289 0.2469 Uncertain 7_150733025_T->A 7 150733025 150733025 T A snp 2791.77 0/1 99 250 144 106 0.42 exonic rs2303926 ABCB8 AU synonymous SNV NM_001282293 exon6 c.T720A p.R240R 0.300519 0.2778 0.318161 0.3077 0.2660 1.000 P -1.007 T Likely benign 7_150734380_T->C 7 150734380 150734380 T C snp 431.77 0/1 99 51 31 20 0.39 intronic rs35900662 ABCB8 AU NM_007188 exon9 c.8134+644T>C 0.301717 0.2798 0.3631 0.2549 0.62 T 0.0 P -1.077 T 0.0 T 0.0 T Uncertain 7_150738118_-->GG 7 150738118 150738118 - GG indel 2467.73 0/1 99 145 72 73 0.5 intronic rs3214587 ABCB8 AU NM_007188 exon13 c.12583-67insGG 0.164337 0.2619 Uncertain 7_150747746_A->G 7 150747746 150747746 A G snp 4599.77 1/1 99 162 1 161 0.99 intronic rs2288645 ASIC3 AU NM_004769 exon3 c.1723+51A>G 0.846645 0.7728 0.844610 0.8248 0.7843 Uncertain 7_150748771_T->C 7 150748771 150748771 T C snp 41.77 0/1 70 4 2 2 0.5 intronic rs58134191 ASIC3 AU NM_004769 exon7 c.2924-125T>C 0.385583 0.3641 Uncertain 7_150748869_C->G 7 150748869 150748869 C G snp 836.77 0/1 99 51 19 32 0.63 intronic rs10255526 ASIC3 AU NM_004769 exon7 c.2924-27C>G 0.252596 0.3353 0.183559 0.2323 0.3275 Uncertain 7_150751094_G->T 7 150751094 150751094 G T snp 535.77 0/1 99 39 18 21 0.54 UTR3 CDK5 AR Uncertain 7_150751590_C->A 7 150751590 150751590 C A snp 523.77 0/1 99 46 24 22 0.48 intronic rs2069459 CDK5 AR NM_004935 exon3 c.457+38C>A 0.380192 0.377 0.368834 0.3581 0.3587 Uncertain 7_150752066_T->C 7 150752066 150752066 T C snp 4327.77 1/1 99 164 0 164 1.0 intronic rs891507 CDK5 AR NM_004935 exon4 c.1018-47T>C 0.903554 0.9524 0.876433 0.8732 0.9637 Uncertain 7_150752608_T->G 7 150752608 150752608 T G snp 526.77 0/1 99 40 19 21 0.53 intronic rs2069456 CDK5 AR NM_004935 exon6 c.1523-10T>G 0.27516 0.3244 0.228423 0.2779 0.3257 Uncertain 7_150759220_GTGTGTGAGT->- 7 150759220 150759229 GTGTGTGAGT - indel 1446.73 0/1 99 31 11 20 0.65 intronic rs3217354 SLC4A2 AU NM_001199692 exon2 c.51+95_51+104delGTGTGTGAGT 0.485623 0.4355 Uncertain 7_150760076_G->C 7 150760076 150760076 G C snp 264.77 0/1 99 20 10 10 0.5 UTR5 rs34403003 SLC4A2 AU 0.29373 0.2837 Uncertain 7_150761150_C->G 7 150761150 150761150 C G snp 222.84 1/1 18 6 0 6 1.0 intronic rs6464122 SLC4A2 AU NM_001199692 exon3 c.2214-138C>G 0.896166 0.9454 Uncertain 7_150761314_G->A 7 150761314 150761314 G A snp 1333.77 0/1 99 88 28 60 0.68 exonic rs2303929 SLC4A2 AU nonsynonymous SNV NM_001199693 exon2 c.G50A p.G17E 0.237819 0.2877 0.194602 0.2637 0.2816 0.94 T 0.000 P -1.002 T 0.0 T 0.001 T Pathogenic 7_150761880_C->A 7 150761880 150761880 C A snp 1472.77 0/1 99 159 92 67 0.42 intronic rs2303931 SLC4A2 AU NM_001199692 exon4 c.2780+26C>A 0.333866 0.3869 0.277718 0.3187 0.3915 Uncertain 7_150763555_G->C 7 150763555 150763555 G C snp 182.9 1/1 15 6 0 6 1.0 intronic rs12703111 SLC4A2 AU NM_001199692 exon6 c.4529-48G>C 0.683506 0.7133 0.706298 0.7005 0.6926 Uncertain 7_150763655_T->A 7 150763655 150763655 T A snp 401.77 1/1 30 14 0 14 1.0 exonic rs2229549 SLC4A2 AU synonymous SNV NM_001199693 exon5 c.T603A p.T201T 0.535543 0.7034 0.447902 0.5792 0.6738 Uncertain 7_150765065_T->C 7 150765065 150765065 T C snp 969.77 1/1 69 36 0 36 1.0 exonic rs2229550 SLC4A2 AU synonymous SNV NM_001199693 exon7 c.T1044C p.T348T 0.895966 0.9454 0.858296 0.8660 0.9510 Uncertain 7_150768786_G->A 7 150768786 150768786 G A snp 1239.77 0/1 99 134 80 54 0.4 exonic rs2303937 SLC4A2 AU synonymous SNV NM_001199693 exon14 c.G2175A p.T725T 0.449281 0.4157 0.420883 0.4769 0.4293 Uncertain 7_150771721_T->C 7 150771721 150771721 T C snp 1846.77 0/1 99 142 66 76 0.54 intronic rs35739768 SLC4A2 AU NM_001199692 exon19 c.12687-40T>C 0.00758786 0.0377 0.0034 0.0441 Uncertain 7_150773072_G->C 7 150773072 150773072 G C snp 949.77 0/1 99 90 51 39 0.43 intronic rs2303939 SLC4A2 AU NM_001199692 exon22 c.14025-27G>C 0.669329 0.63 0.607813 0.5741 0.6393 Uncertain 7_150775306_G->A 7 150775306 150775306 G A snp 385.77 0/1 99 17 4 13 0.76 intronic rs2303942 FASTK AU NM_033015 exon6 c.1368+127G>A 0.552516 0.4117 Uncertain 7_150778524_G->A 7 150778524 150778524 G A snp 93.28 1/1 9 3 0 3 1.0 UTR3 rs4725387 TMUB1 AU 0.969848 1 Uncertain 7_150783757_GCC->- 7 150783757 150783759 GCC - indel 274.8 1/1 18 6 0 6 1.0 intronic rs570588152 AGAP3 AU 0.887979 0.9643 Uncertain 7_150783922_T->G 7 150783922 150783922 T G snp 50.74 1/1 6 2 0 2 1.0 exonic AGAP3 AU nonsynonymous SNV NM_001042535 exon1 c.T94G p.C32G 0.71 T 0.657 D -0.864 T 0.0 T 0.0 T Pathogenic 7_150784407_T->C 7 150784407 150784407 T C snp 70.77 0/1 99 13 8 5 0.38 intronic rs13239507 AGAP3 AU NM_031946 exon1 c.331+248T>C 0.473243 0.5665 Uncertain 7_150812493_G->C 7 150812493 150812493 G C snp 133.03 1/1 12 5 0 5 1.0 intronic rs6971966 AGAP3 AU NM_031946 exon2 c.30051-1386G>C 0.822883 0.9931 0 . Uncertain 7_150825492_A->G 7 150825492 150825492 A G snp 373.77 1/1 30 10 0 10 1.0 intronic rs2288651 AGAP3 AU NM_001281300 exon10 c.10824-174A>G 0.359425 0.3998 Uncertain 7_150825567_C->T 7 150825567 150825567 C T snp 2052.77 1/1 99 77 0 77 1.0 intronic rs2288650 AGAP3 AU NM_001281300 exon10 c.10824-99C>T 0.741414 0.6865 Uncertain 7_150825839_G->A 7 150825839 150825839 G A snp 558.77 1/1 42 14 0 14 1.0 intronic rs7808252 AGAP3 AU NM_001281300 exon10 c.10929+68G>A 0.289137 0.3641 Uncertain 7_150846076_C->T 7 150846076 150846076 C T snp 1452.77 0/1 99 150 90 60 0.4 exonic rs751954730 GBX1 AU nonsynonymous SNV NM_001098834 exon2 c.G692A p.G231E 2.49e-05 0.0003 0.67 T 1 D -0.176 T 0.535 P 0.331 P Pathogenic 7_150873754_G->A 7 150873754 150873754 G A snp 1710.77 0/1 99 112 44 68 0.61 exonic rs62489646 ASB10 AU nonsynonymous SNV NM_001142459 exon4 c.C1114T p.R372C 0.0766773 0.0833 0.0559 0.0759 0.13 T 1.000 P -0.862 T 1.0 D 0.925 D Pathogenic 7_150916115_AGG->- 7 150916115 150916117 AGG - indel 2822.73 0/1 99 129 62 67 0.52 intronic rs35656219 ABCF2 AU NM_007189 exon8 c.5010-34_5010-32delAGG 0.448283 0.7202 0.376038 0.4186 0.7254 Uncertain 7_150916228_G->A 7 150916228 150916228 G A snp 1222.77 0/1 99 106 51 55 0.52 exonic rs6949587 ABCF2 AU synonymous SNV NM_005692 exon8 c.C939T p.Y313Y 0.419329 0.7202 0.348224 0.4107 0.7267 Uncertain 7_150918914_G->C 7 150918914 150918914 G C snp 2105.77 1/1 99 60 0 60 1.0 intronic rs4726007 ABCF2 AU NM_007189 exon9 c.7627+148G>C 0.738618 0.873 Uncertain 7_150921294_C->A 7 150921294 150921294 C A snp 1262.77 0/1 99 99 46 53 0.54 intronic rs75100208 ABCF2 AU NM_007189 exon12 c.10061+94C>A 0.0752796 0.1379 Uncertain 7_150921713_G->A 7 150921713 150921713 G A snp 92.28 1/1 9 3 0 3 1.0 intronic rs7786030 ABCF2 AU NM_007189 exon13 c.10722-148G>A 0.523762 0.8581 Uncertain 7_150921950_A->G 7 150921950 150921950 A G snp 3522.77 1/1 99 133 0 133 1.0 exonic rs6464133 ABCF2 AU synonymous SNV NM_005692 exon3 c.T279C p.L93L 0.739018 0.874 0.710749 0.7000 0.8880 Uncertain 7_150931268_C->G 7 150931268 150931268 C G snp 2542.77 0/1 99 236 122 114 0.48 exonic rs2608293 CHPF2 AU synonymous SNV NM_019015 exon1 c.C171G p.S57S 0.448283 0.7183 0.386360 0.4200 0.7251 Uncertain 7_150934162_G->C 7 150934162 150934162 G C snp 289.77 0/1 99 32 20 12 0.38 intronic rs2446065 CHPF2 AU NM_019015 exon4 c.3362-297G>C 0.450679 0.7183 Uncertain 7_150934975_C->G 7 150934975 150934975 C G snp 3345.77 0/1 99 250 115 135 0.54 exonic rs2487154 CHPF2 AU synonymous SNV NM_019015 exon4 c.C1527G p.A509A 0.433506 0.7153 0.370328 0.4197 0.7212 Uncertain 7_150936052_C->G 7 150936052 150936052 C G snp 71.77 0/1 96 6 3 3 0.5 downstream rs1870238 CHPF2 AU 0.449481 0.7222 Uncertain 7_150936124_C->G 7 150936124 150936124 C G snp 776.77 0/1 99 68 35 33 0.49 UTR3 rs2290736 SMARCD3 AU 0.10024 0.1369 0.065046 Uncertain 7_150937092_T->A 7 150937092 150937092 T A snp 229.77 0/1 87 16 6 10 0.63 intronic rs181238542 SMARCD3 AU NM_003078 exon4 c.1009-105T>A 0.0726837 0.1379 Uncertain 7_150937377_-->G 7 150937377 150937377 - G indel 1530.73 1/1 99 39 0 39 1.0 intronic rs397772389 SMARCD3 AU NM_003078 exon4 c.1145+44insG 0.986022 1 0.9960 1 Uncertain 7_150939193_A->G 7 150939193 150939193 A G snp 644.77 0/1 99 51 24 27 0.53 intronic rs4725398 SMARCD3 AU NM_003078 exon8 c.3034-29A>G 0.435304 0.7222 0.372520 0.4168 0.7262 Uncertain 7_150939359_C->T 7 150939359 150939359 C T snp 893.77 0/1 99 73 34 39 0.53 intronic rs219227 SMARCD3 AU NM_003078 exon8 c.3130+41C>T 0.804113 0.8591 0.790481 0.8170 0.8493 Uncertain 7_150939396_C->A 7 150939396 150939396 C A snp 508.77 0/1 99 37 20 17 0.46 intronic rs219228 SMARCD3 AU NM_003078 exon8 c.3130+78C>A 0.841653 0.8591 Uncertain 7_150940657_T->C 7 150940657 150940657 T C snp 83.9 0/1 15 5 1 4 0.8 intronic rs122815 SMARCD3 AU NM_003078 exon11 c.4556-87T>C 0.923922 0.8651 Uncertain 7_150945434_C->G 7 150945434 150945434 C G snp 188.77 0/1 99 12 6 6 0.5 intronic rs219234 SMARCD3 AU NM_001003801 exon13 c.9382-136C>G 0.925719 0.8522 Uncertain 7_151038958_T->C 7 151038958 151038958 T C snp 2205.77 1/1 99 85 0 85 1.0 intronic rs2142172 NUB1 AU NM_001243351 exon1 c.70+26T>C 0.572284 0.9335 0.4134 0.9701 Uncertain 7_151039021_T->C 7 151039021 151039021 T C snp 498.77 0/1 99 45 23 22 0.49 intronic rs10085614 NUB1 AU NM_001243351 exon1 c.70+89T>C 0.260783 0.5923 Uncertain 7_151048484_G->A 7 151048484 151048484 G A snp 800.77 0/1 99 58 30 28 0.48 intronic rs449081 NUB1 AU NM_001243351 exon4 c.9647-25G>A 0.670527 0.874 0.643314 0.7300 0.8947 Uncertain 7_151049002_-->TCACACAC 7 151049002 151049002 - TCACACAC indel 1674.73 ./1 99 18 0 18 1.0 intronic rs60437024 NUB1 AU NM_001243351 exon4 c.9706+434insTCACACAC Uncertain 7_151049002_-->ACACACAC 7 151049002 151049002 - ACACACAC indel 1674.73 ./1 99 18 0 18 1.0 intronic rs3838706 NUB1 AU NM_001243351 exon4 c.9706+434insACACACAC Uncertain 7_151049025_T->C 7 151049025 151049025 T C snp 1199.77 1/1 87 44 0 44 1.0 intronic rs379931 NUB1 AU NM_001243351 exon4 c.9706+457T>C 0.765974 0.9812 Uncertain 7_151049231_C->T 7 151049231 151049231 C T snp 1130.77 0/1 99 101 51 50 0.5 intronic rs366355 NUB1 AU NM_001243351 exon4 c.9706+663C>T 0.70008 0.874 0.6656 0.9109 0.000 P Uncertain 7_151049337_A->G 7 151049337 151049337 A G snp 1013.77 1/1 75 31 0 31 1.0 intronic rs394259 NUB1 AU NM_001243351 exon5 c.11035-560A>G 0.879992 0.9812 Uncertain 7_151049818_C->T 7 151049818 151049818 C T snp 299.77 0/1 99 27 15 12 0.44 intronic rs444648 NUB1 AU NM_001243351 exon5 c.11035-79C>T 0.611821 0.872 Uncertain 7_151053043_A->G 7 151053043 151053043 A G snp 710.77 0/1 99 94 64 30 0.32 intronic rs446886 NUB1 AU NM_001243351 exon6 c.14174+7A>G 0.641573 0.872 0.618812 0.6701 0.8903 Uncertain 7_151057397_C->- 7 151057397 151057397 C - indel 2696.73 0/1 99 176 89 87 0.49 intronic rs3217033 NUB1 AU NM_001243351 exon8 c.18471+64delC Uncertain 7_151064064_C->T 7 151064064 151064064 C T snp 1307.77 0/1 99 101 47 54 0.53 exonic rs386956 NUB1 AU synonymous SNV NM_001243351 exon9 c.C912T p.Y304Y 0.384385 0.4603 0.485389 0.5304 0.5104 Uncertain 7_151064305_A->G 7 151064305 151064305 A G snp 345.78 1/1 27 9 0 9 1.0 intronic rs367191 NUB1 AU NM_001243351 exon9 c.25349+94A>G 0.877196 0.9851 Uncertain 7_151073093_C->T 7 151073093 151073093 C T snp 1280.77 0/1 99 79 34 45 0.57 intronic rs731995 NUB1 AU NM_001243351 exon13 c.34167+64C>T 0.140176 0.3383 Uncertain 7_151078371_C->G 7 151078371 151078371 C G snp 65.77 0/1 94 11 8 3 0.27 UTR3 rs2286417 WDR86 AU 0.164537 0.377 0.1333 0.5 Uncertain 7_151078719_C->A 7 151078719 151078719 C A snp 278.77 0/1 99 18 7 11 0.61 exonic rs4726019 WDR86 AU nonsynonymous SNV NM_001284261 exon5 c.G560T p.G187V 0.164537 0.377 0.4111 0.5 0 D 0.000 P -0.992 T 0.0 T 0.001 T Pathogenic 7_151078735_A->G 7 151078735 151078735 A G snp 446.77 1/1 33 16 0 16 1.0 exonic rs4141455 WDR86 AU nonsynonymous SNV NM_001284261 exon5 c.T544C p.C182R 0.836462 0.9851 0.7651 1 0.21 T 0.000 P -1.013 T 0.0 T 0.0 T Pathogenic 7_151078845_G->A 7 151078845 151078845 G A snp 664.77 0/1 99 62 34 28 0.45 intronic rs4141454 WDR86 AU NM_001284261 exon1 c.388+13G>A 0.532548 0.8681 0.385875 0.6470 0.8553 Uncertain 7_151097323_A->G 7 151097323 151097323 A G snp 723.77 0/1 99 80 45 35 0.44 exonic rs11767693 WDR86 AU synonymous SNV NM_001284260 exon2 c.T168C p.H56H 0.707468 0.8194 0.713080 0.7360 0.8326 Uncertain 7_151105916_T->C 7 151105916 151105916 T C snp 301.78 1/1 24 9 0 9 1.0 intronic rs35783364 WDR86 AU NM_001284260 exon6 c.28099-596T>C 0.229233 0.4851 Uncertain 7_151106066_C->T 7 151106066 151106066 C T snp 3709.77 1/1 99 135 0 135 1.0 intronic rs12533730 WDR86 AU NM_001284260 exon6 c.28099-446C>T 0.340455 0.506 0.3543 0.5348 Uncertain 7_151106245_C->T 7 151106245 151106245 C T snp 1456.77 1/1 99 48 0 48 1.0 intronic rs12533766 WDR86 AU NM_001284260 exon6 c.28099-267C>T 0.212061 0.4841 Uncertain 7_151108411_T->A 7 151108411 151108411 T A snp 1679.77 1/1 99 65 0 65 1.0 ncRNA_intronic rs917613 WDR86-AS1 AU 0.434505 0.5367 0.3856 0.4627 Uncertain 7_151164348_G->A 7 151164348 151164348 G A snp 1216.77 0/1 99 160 101 59 0.37 intronic rs17635434 RHEB AU NM_005614 exon1 c.93+51G>A 0.385982 0.4395 0.378825 0.4622 0.4515 Uncertain 7_151168416_AAT->- 7 151168416 151168418 AAT - indel 588.73 0/1 99 29 17 12 0.41 intronic rs35526149 RHEB AU NM_005614 exon3 c.4275-63_4275-61delAAT 0.395966 0.4425 0.377301 Uncertain 7_151168534_G->A 7 151168534 151168534 G A snp 900.77 0/1 99 92 53 39 0.42 intronic rs6956899 RHEB AU NM_005614 exon3 c.4323+7G>A 0.540335 0.4425 0.527166 0.5078 0.4443 Uncertain 7_151195328_G->C 7 151195328 151195328 G C snp 400.77 0/1 99 38 20 18 0.47 intronic rs11772458 RHEB AU NM_005614 exon7 c.23896+7228G>C 0.389976 0.4405 Uncertain 7_151216353_G->A 7 151216353 151216353 G A snp 611.77 1/1 45 27 0 27 1.0 intronic rs6948477 RHEB AU NM_005614 exon8 c.52341-192G>A 0.542931 0.5645 Uncertain 7_151254175_T->C 7 151254175 151254175 T C snp 4684.77 1/1 99 176 1 175 0.99 UTR3 rs8961 PRKAG2 AO,AD 0.554313 0.7292 Uncertain 7_151254445_T->C 7 151254445 151254445 T C snp 354.78 1/1 27 10 0 10 1.0 intronic rs764801 PRKAG2 AO,AD NM_016203 exon1 c.32+127T>C 0.540136 0.7292 Uncertain 7_151254462_G->A 7 151254462 151254462 G A snp 264.8 1/1 21 7 0 7 1.0 intronic rs764800 PRKAG2 AO,AD NM_016203 exon1 c.32+144G>A 0.536342 0.7292 Uncertain 7_151267397_G->A 7 151267397 151267397 G A snp 920.77 1/1 66 33 0 33 1.0 intronic rs2302530 PRKAG2 AO,AD NM_016203 exon7 c.13025+86G>A 0.242412 0.4593 Uncertain 7_151292395_-->T 7 151292395 151292395 - T indel 3189.77 1/1 99 72 0 72 1.0 intronic rs35348247 PRKAG2 AO,AD NM_016203 exon11 c.38144-35insT 0.804712 0.9851 0.706949 0.7647 0.9805 Uncertain 7_151432869_T->C 7 151432869 151432869 T C snp 1567.77 1/1 99 45 0 45 1.0 intronic rs1547470 PRKAG2 AO,AD NM_001304527 exon14 c.178699-116T>C 0.794728 0.8958 Uncertain 7_151478602_T->C 7 151478602 151478602 T C snp 84.28 1/1 9 3 0 3 1.0 intronic rs12374732 PRKAG2 AO,AD NM_016203 exon14 c.224231+85T>C 0.760383 0.8562 Uncertain 7_151483445_A->G 7 151483445 151483445 A G snp 2205.77 1/1 99 80 0 80 1.0 intronic rs12671980 PRKAG2 AO,AD NM_016203 exon15 c.229269-110A>G 0.765575 0.9722 Uncertain 7_151504499_G->A 7 151504499 151504499 G A snp 2940.77 1/1 99 104 0 104 1.0 intronic rs10257529 PRKAG2 AO,AD NM_001040633 exon16 c.257215-7002G>A 0.421326 0.3115 0.515769 0.4726 0.3223 Uncertain 7_151573549_G->A 7 151573549 151573549 G A snp 417.77 0/1 99 41 26 15 0.37 intronic rs75750979 PRKAG2 AO,AD NM_016203 exon16 c.319305-42G>A 0.0587061 0.1796 0.032600 0.0568 0.1939 Uncertain 7_151573731_G->A 7 151573731 151573731 G A snp 2941.77 0/1 99 250 127 123 0.49 UTR5 rs66628686 PRKAG2 AO,AD 0.188898 0.2391 0.129268 0.1743 0.2596 ID=CR054266;DIS=Glucose/Lipid metabolism, association with;TAG=DP;PUB=16115789 DP Uncertain 7_151668225_A->T 7 151668225 151668225 A T snp 99.28 1/1 9 5 1 4 0.8 intronic rs1919521 GALNTL5 AU NM_145292 exon3 c.3819+75A>T 0.880192 0.9375 Uncertain 7_151680072_T->C 7 151680072 151680072 T C snp 6394.77 1/1 99 228 0 228 1.0 exonic rs6960270 GALNTL5 AU nonsynonymous SNV NM_145292 exon4 c.T370C p.C124R 0.801118 0.8403 0.819314 0.8414 0.8539 0 D 1.000 P -1.019 T 1.0 D 0.997 D Pathogenic 7_151684168_C->A 7 151684168 151684168 C A snp 336.78 1/1 27 9 0 9 1.0 intronic rs4726127 GALNTL5 AU NM_145292 exon5 c.19912-75C>A 0.983027 1 Uncertain 7_151684427_C->T 7 151684427 151684427 C T snp 527.77 0/1 99 56 35 21 0.38 intronic rs28367452 GALNTL5 AU NM_145292 exon5 c.20035+61C>T 0.205272 0.2639 Uncertain 7_151699761_C->A 7 151699761 151699761 C A snp 430.77 0/1 99 31 17 14 0.45 intronic rs78929017 GALNTL5 AU NM_145292 exon6 c.35467-37C>A 0.0161741 0.0119 0.000615 0.0193 0.0166 Uncertain 7_151723023_GCG->- 7 151723023 151723025 GCG - indel 2732.73 1/1 99 65 0 65 1.0 intronic rs113763306 GALNT11 AU NM_001304514 exon1 c.52+54_52+56delGCG 0.993011 1 Uncertain 7_151818235_C->T 7 151818235 151818235 C T snp 54.74 1/1 6 2 0 2 1.0 intronic rs12531704 GALNT11 AU NM_001304514 exon10 c.95136+182C>T 0.0698882 0.0952 Uncertain 7_151818777_T->C 7 151818777 151818777 T C snp 3335.77 1/1 99 112 0 112 1.0 UTR3 rs967093 GALNT11 AU 0.991214 1 0.992311 0.9903 0.9999 Uncertain 7_151873853_C->T 7 151873853 151873853 C T snp 2669.77 0/1 99 206 96 110 0.53 exonic rs6464211 KMT2C AU synonymous SNV NM_170606 exon38 c.G8685A p.Q2895Q 0.382788 0.3016 0.341227 0.2494 0.3157 0.001 P -0.966 T ID=COSM3762512;OCCURENCE=2(large_intestine) Likely benign 7_151944861_C->T 7 151944861 151944861 C T snp 150.77 0/1 99 21 15 6 0.29 intronic rs375537206 KMT2C AU NM_170606 exon46 c.111070-125C>T Uncertain 7_151945007_C->T 7 151945007 151945007 C T snp 3974.77 0/1 99 250 121 129 0.52 exonic rs2479172 KMT2C AU nonsynonymous SNV NM_170606 exon14 c.G2512A p.G838S 0.4944 0.4978 0.43 T 1 D -0.835 T 1.0 D 0.999 D Pathogenic 7_151945140_C->T 7 151945140 151945140 C T snp 959.77 0/1 99 250 185 65 0.26 exonic rs2537263 KMT2C AU synonymous SNV NM_170606 exon14 c.G2379A p.S793S 0.4564 0.4783 ID=COSM452728;OCCURENCE=1(thyroid),1(breast) Uncertain 7_151945167_G->T 7 151945167 151945167 G T snp 1470.77 0/1 99 250 173 77 0.31 exonic rs2537264 KMT2C AU synonymous SNV NM_170606 exon14 c.C2352A p.S784S 0.4776 0.4880 ID=COSM4162016;OCCURENCE=1(thyroid) Uncertain 7_151945204_G->A 7 151945204 151945204 G A snp 1422.77 0/1 99 250 173 77 0.31 exonic rs4024453 KMT2C AU nonsynonymous SNV NM_170606 exon14 c.C2315T p.S772L 0.4861 0.4840 0.14 T 1 D -0.137 T 0.546 P 0.261 P ID=COSM4162018;OCCURENCE=2(thyroid) ID=CM156679;DIS=Nasopharyngeal carcinoma;TAG=DM?;PUB=26014803 DM? Pathogenic 7_151962033_A->T 7 151962033 151962033 A T snp 108.77 0/1 99 36 26 10 0.28 intronic KMT2C AU NM_170606 exon52 c.128206-89A>T Uncertain 7_151962055_C->T 7 151962055 151962055 C T snp 286.77 0/1 99 82 47 35 0.43 intronic rs115431229 KMT2C AU NM_170606 exon52 c.128206-67C>T Uncertain 7_151962062_A->G 7 151962062 151962062 A G snp 1140.77 0/1 99 143 78 65 0.45 intronic KMT2C AU NM_170606 exon52 c.128206-60A>G Uncertain 7_151962068_T->C 7 151962068 151962068 T C snp 2236.77 0/1 99 184 85 99 0.54 intronic KMT2C AU NM_170606 exon52 c.128206-54T>C Uncertain 7_151962077_C->G 7 151962077 151962077 C G snp 2449.77 0/1 99 243 137 106 0.44 intronic rs62478355 KMT2C AU NM_170606 exon52 c.128206-45C>G 0.4829 0.4761 Uncertain 7_151962134_G->T 7 151962134 151962134 G T snp 132.77 0/1 99 250 226 24 0.1 exonic rs146238849 KMT2C AU stopgain NM_170606 exon8 c.C1173A p.C391X 0.0294 0.0083 1 T 1 D ID=COSM230133;OCCURENCE=1(NS) Pathogenic 7_151962168_C->A 7 151962168 151962168 C A snp 63.77 0/1 92 250 226 24 0.1 exonic rs138908625 KMT2C AU nonsynonymous SNV NM_170606 exon8 c.G1139T p.R380L 0.003383 0.0284 0.0081 0.07 T 1 D 0.919 D 0.997 D 0.987 D ID=COSM225885;OCCURENCE=2(skin) Pathogenic 7_151962176_T->A 7 151962176 151962176 T A snp 236.77 0/1 99 250 214 36 0.14 exonic rs62478356 KMT2C AU synonymous SNV NM_170606 exon8 c.A1131T p.P377P 0.4554 0.4415 ID=COSM4162022;OCCURENCE=3(thyroid) Uncertain 7_151962309_G->A 7 151962309 151962309 G A snp 735.77 0/1 99 206 122 84 0.41 intronic rs201948579 KMT2C AU NM_170606 exon52 c.128378+15G>A 0.000399361 0.0003 0.0001 Uncertain 7_151970672_A->T 7 151970672 151970672 A T snp 637.77 0/1 60 30 4 26 0.87 intronic rs59427422 KMT2C AU NM_170606 exon53 c.136873-117A>T Uncertain 7_151970775_C->G 7 151970775 151970775 C G snp 554.77 0/1 99 248 172 76 0.31 intronic rs201635031 KMT2C AU NM_170606 exon53 c.136873-14C>G 0.0167 0.0226 Uncertain 7_151970856_T->A 7 151970856 151970856 T A snp 3450.77 0/1 99 250 48 202 0.81 exonic rs10454320 KMT2C AU nonsynonymous SNV NM_170606 exon7 c.A946T p.T316S 0.5276 0.5358 0.77 T 1 D -0.940 T 0.684 T 0.469 P ID=COSM4162024;OCCURENCE=1(thyroid) ID=CM156680;DIS=Nasopharyngeal carcinoma;TAG=DM?;PUB=26014803 DM? Pathogenic 7_151970859_C->T 7 151970859 151970859 C T snp 334.77 0/1 99 250 200 50 0.2 exonic rs149992209 KMT2C AU nonsynonymous SNV NM_170606 exon7 c.G943A p.G315S 0.0832 0.0457 0.04 T 1 D 0.272 D 1.0 D 1.0 D ID=COSM1179669;OCCURENCE=1(ovary),2(breast),2(prostate) Pathogenic 7_151970931_G->A 7 151970931 151970931 G A snp 2421.77 0/1 99 224 60 164 0.73 exonic rs56850341 KMT2C AU nonsynonymous SNV NM_170606 exon7 c.C871T p.L291F 0.453474 0.4643 0.4997 0.4990 0.14 T 1 D -0.264 T 1.0 D 0.999 D Pathogenic 7_151970969_A->C 7 151970969 151970969 A C snp 217.77 0/1 99 189 166 23 0.12 intronic rs201363439 KMT2C AU NM_170606 exon53 c.137036+17A>C 0.0615 0.0285 Uncertain 7_151971043_T->C 7 151971043 151971043 T C snp 207.77 0/1 99 23 6 17 0.74 intronic rs2360885 KMT2C AU NM_170606 exon53 c.137036+91T>C Uncertain 7_152027624_T->C 7 152027624 152027624 T C snp 1562.77 0/1 99 135 72 63 0.47 intronic rs3735162 KMT2C AU NM_170606 exon57 c.193769-61T>C 0.0221645 0.0933 Uncertain 7_152373233_A->C 7 152373233 152373233 A C snp 2039.77 0/1 99 206 116 90 0.44 UTR5 rs3218385 XRCC2 AU 0.0856629 0.1548 0.052124 Uncertain 7_152456909_C->T 7 152456909 152456909 C T snp 404.77 0/1 81 21 4 17 0.81 UTR5 rs66966963 ACTR3B AU 0.445687 0.7054 Uncertain 7_152498667_C->T 7 152498667 152498667 C T snp 35.77 0/1 51 26 15 11 0.42 intronic rs112156405 ACTR3B AU NM_020445 exon4 c.41738-38C>T 0.4395 0.4700 Uncertain 7_152511598_C->T 7 152511598 152511598 C T snp 1923.77 1/1 99 66 0 66 1.0 intronic rs112910296 ACTR3B AU NM_020445 exon5 c.54667-36C>T 0.7882 0.8686 Uncertain 7_152513769_G->A 7 152513769 152513769 G A snp 45.77 0/1 74 20 15 5 0.25 intronic rs116164729 ACTR3B AU NM_020445 exon6 c.56706+96G>A Uncertain 7_152520388_G->A 7 152520388 152520388 G A snp 623.77 0/1 99 42 19 23 0.55 intronic rs151055592 ACTR3B AU NM_020445 exon8 c.63459-38G>A 0.0175719 0.0218 0.025000 0.0298 0.0445 Uncertain 7_152520731_T->C 7 152520731 152520731 T C snp 407.77 0/1 99 25 11 14 0.56 intronic rs3864524 ACTR3B AU NM_020445 exon8 c.63633+131T>C 0.611022 0.751 Uncertain 7_152549107_C->T 7 152549107 152549107 C T snp 548.77 0/1 99 44 24 20 0.45 intronic rs6944646 ACTR3B AU NM_020445 exon10 c.92243-103C>T 0.520567 0.6637 Uncertain 7_152550499_T->C 7 152550499 152550499 T C snp 604.77 0/1 99 53 24 29 0.55 intronic rs4726215 ACTR3B AU NM_020445 exon11 c.93611-79T>C 0.794129 0.8016 Uncertain 7_153749753_C->T 7 153749753 153749753 C T snp 46.77 0/1 33 3 1 2 0.67 UTR5 rs1974615 DPP6 AU,AD 0.521166 0.5337 Uncertain 7_153749806_T->- 7 153749806 153749806 T - indel 133.73 0/1 87 14 6 8 0.57 UTR5 rs571183490 DPP6 AU,AD 0.370008 0.4643 Uncertain 7_153750161_C->- 7 153750161 153750161 C - indel 833.73 0/1 99 38 16 22 0.58 intronic rs199977459 DPP6 AU,AD NM_130797 exon1 c.243+13delC 0.283546 0.3899 0.231061 0.3929 0.625 Uncertain 7_154002436_C->T 7 154002436 154002436 C T snp 304.77 0/1 88 12 3 9 0.75 UTR5 rs552009707 DPP6 AU,AD 0.000798722 0.003 Uncertain 7_154143443_C->T 7 154143443 154143443 C T snp 1673.77 0/1 99 119 49 70 0.59 intronic rs2291538 DPP6 AU,AD NM_001936 exon2 c.140834+30C>T 0.211462 0.2063 0.199403 0.1385 0.1840 Uncertain 7_154379855_G->A 7 154379855 154379855 G A snp 854.77 0/1 99 56 23 33 0.59 intronic rs140090305 DPP6 AU,AD NM_001290253 exon6 c.630435-485G>A 0.00738818 0.0228 Uncertain 7_154429487_C->T 7 154429487 154429487 C T snp 448.77 0/1 99 36 19 17 0.47 intronic DPP6 AU,AD NM_001936 exon6 c.426951-43C>T Uncertain 7_154429560_C->T 7 154429560 154429560 C T snp 2202.77 1/1 99 80 0 80 1.0 exonic rs11243339 DPP6 AU,AD synonymous SNV NM_001936 exon6 c.C471T p.Y157Y 0.697085 0.8919 0.653393 0.7393 0.9138 Uncertain 7_154429657_T->C 7 154429657 154429657 T C snp 2257.77 1/1 99 82 0 82 1.0 intronic rs6972501 DPP6 AU,AD NM_001936 exon6 c.427004+74T>C 0.773363 0.8919 0.728208 Uncertain 7_154429821_G->T 7 154429821 154429821 G T snp 168.9 1/1 15 6 0 6 1.0 intronic rs11971701 DPP6 AU,AD NM_001936 exon6 c.427004+238G>T 0.563099 0.5784 Uncertain 7_154461112_A->G 7 154461112 154461112 A G snp 2297.77 0/1 99 218 112 106 0.49 exonic rs3807218 DPP6 AU,AD synonymous SNV NM_001936 exon7 c.A537G p.K179K 0.797324 0.8363 0.835906 0.8671 0.8546 Uncertain 7_154461249_TGTG->- 7 154461249 154461252 TGTG - indel 1509.73 1/1 78 67 0 67 1.0 intronic rs3220067 DPP6 AU,AD NM_001936 exon7 c.458572+98_458572+101delTGTG Uncertain 7_154596517_G->A 7 154596517 154596517 G A snp 5203.77 1/1 99 174 0 174 1.0 intronic rs2280659 DPP6 AU,AD NM_001936 exon15 c.594047-109G>A 0.343051 0.4891 Uncertain 7_154598908_A->G 7 154598908 154598908 A G snp 2631.77 1/1 99 84 2 82 0.98 intronic rs2293357 DPP6 AU,AD NM_001936 exon16 c.596243+86A>G 0.782548 0.745 Uncertain 7_154599003_A->G 7 154599003 154599003 A G snp 471.77 1/1 36 12 0 12 1.0 intronic rs2293358 DPP6 AU,AD NM_001936 exon16 c.596243+181A>G 0.326278 0.4881 Uncertain 7_154599011_G->A 7 154599011 154599011 G A snp 256.8 1/1 21 7 0 7 1.0 intronic rs998943 DPP6 AU,AD NM_001936 exon16 c.596243+189G>A 0.699681 0.7421 Uncertain 7_154645406_A->G 7 154645406 154645406 A G snp 2698.77 1/1 99 88 0 88 1.0 intronic rs6962284 DPP6 AU,AD NM_001936 exon17 c.642910-83A>G 0.69349 0.9692 Uncertain 7_154645419_-->TTTTC 7 154645419 154645419 - TTTTC indel 7931.73 1/1 99 105 0 105 1.0 intronic rs145928686 DPP6 AU,AD NM_001936 exon17 c.642910-70insTTTTC 0.489417 0.8234 0.410714 Uncertain 7_154659551_A->C 7 154659551 154659551 A C snp 113.77 0/1 99 9 5 4 0.44 intronic rs7803650 DPP6 AU,AD NM_001936 exon18 c.657125-153A>C 0.159944 0.0308 Uncertain 7_154659566_T->G 7 154659566 154659566 T G snp 423.77 1/1 33 13 0 13 1.0 intronic rs56243497 DPP6 AU,AD NM_001936 exon18 c.657125-138T>G 0.335463 0.0704 Uncertain 7_154659567_T->G 7 154659567 154659567 T G snp 512.77 1/1 39 14 0 14 1.0 intronic rs61154959 DPP6 AU,AD NM_001936 exon18 c.657125-137T>G 0.335663 0.0704 Uncertain 7_154659889_C->G 7 154659889 154659889 C G snp 1531.77 0/1 99 148 85 63 0.43 intronic rs60134921 DPP6 AU,AD NM_001936 exon18 c.657224+86C>G 0.117212 0.0308 Uncertain 7_154659900_A->G 7 154659900 154659900 A G snp 1412.77 0/1 99 129 73 56 0.43 intronic rs55716573 DPP6 AU,AD NM_001936 exon18 c.657224+97A>G 0.119609 0.0308 Uncertain 7_154664510_C->T 7 154664510 154664510 C T snp 2022.77 1/1 99 63 0 63 1.0 intronic rs2293356 DPP6 AU,AD NM_001936 exon19 c.661824+107C>T 0.234824 0.5347 Uncertain 7_154664534_C->G 7 154664534 154664534 C G snp 1317.77 1/1 96 38 0 38 1.0 intronic rs2293355 DPP6 AU,AD NM_001936 exon19 c.661824+131C>G 0.234824 0.5347 Uncertain 7_154667473_A->G 7 154667473 154667473 A G snp 46.77 0/1 33 3 1 2 0.67 intronic rs78742604 DPP6 AU,AD NM_001936 exon20 c.665036-142A>G 0.0461262 0.0288 Uncertain 7_154667628_A->G 7 154667628 154667628 A G snp 2175.77 1/1 99 85 0 85 1.0 exonic rs2293353 DPP6 AU,AD synonymous SNV NM_001936 exon20 c.A1710G p.P570P 0.58726 0.5625 0.587840 0.5314 0.5555 Uncertain 7_154672551_G->C 7 154672551 154672551 G C snp 1507.77 0/1 99 122 55 67 0.55 intronic rs4960632 DPP6 AU,AD NM_001936 exon21 c.670018-46G>C 0.422324 0.5625 0.339692 0.3581 0.5594 Uncertain 7_154672662_C->T 7 154672662 154672662 C T snp 1493.77 0/1 99 108 45 63 0.58 intronic rs3817521 DPP6 AU,AD NM_001936 exon21 c.670073+10C>T 0.159744 0.4623 0.084110 0.1335 0.4460 Uncertain 7_154672679_A->T 7 154672679 154672679 A T snp 1286.77 0/1 99 97 42 55 0.57 intronic rs3817520 DPP6 AU,AD NM_001936 exon21 c.670073+27A>T 0.423522 0.5625 0.343260 0.3623 0.5574 Uncertain 7_154672717_G->A 7 154672717 154672717 G A snp 958.77 0/1 99 70 33 37 0.53 intronic rs3817519 DPP6 AU,AD NM_001936 exon21 c.670073+65G>A 0.420727 0.5476 0.347350 Uncertain 7_154672839_C->T 7 154672839 154672839 C T snp 112.77 0/1 99 14 9 5 0.36 intronic rs3817517 DPP6 AU,AD NM_001936 exon21 c.670073+187C>T 0.423922 0.5625 Uncertain 7_154679447_G->A 7 154679447 154679447 G A snp 7033.77 1/1 99 248 0 248 1.0 splicing rs940378 DPP6 AU,AD NM_001936 exon23 c.676865+3G>A 0.987819 1 0.973383 0.9704 0.9998 Pathogenic 7_154679610_G->C 7 154679610 154679610 G C snp 335.77 0/1 99 26 15 11 0.42 intronic rs2316537 DPP6 AU,AD NM_001936 exon23 c.676865+166G>C 0.380591 0.5615 Uncertain 7_154679611_A->C 7 154679611 154679611 A C snp 314.77 0/1 99 24 14 10 0.42 intronic rs2316538 DPP6 AU,AD NM_001936 exon23 c.676865+167A>C 0.380791 0.5615 Uncertain 7_154681050_C->T 7 154681050 154681050 C T snp 1291.77 0/1 99 135 79 56 0.41 exonic rs1129300 DPP6 AU,AD synonymous SNV NM_001936 exon24 c.C2187T p.A729A 0.161342 0.4673 0.086721 0.1396 0.4487 Uncertain 7_154681216_G->A 7 154681216 154681216 G A snp 1433.77 0/1 99 123 66 57 0.46 exonic rs1129301 DPP6 AU,AD synonymous SNV NM_001936 exon25 c.G2241A p.R747R 0.263978 0.4663 0.204866 0.2107 0.4703 Uncertain 7_154681383_T->C 7 154681383 154681383 T C snp 426.77 0/1 99 21 8 13 0.62 intronic rs2280656 DPP6 AU,AD NM_001936 exon25 c.678661+143T>C 0.346046 0.5099 Uncertain 7_154684153_T->C 7 154684153 154684153 T C snp 1446.77 0/1 99 153 89 64 0.42 exonic rs3734960 DPP6 AU,AD nonsynonymous SNV NM_001936 exon26 c.T2375C p.L792P 0.35603 0.2738 0.348549 0.3208 0.2940 0.07 T 0.0 P -0.953 T 0.0 T 0.0 T Pathogenic 7_154720259_T->C 7 154720259 154720259 T C snp 85.77 0/1 72 7 3 4 0.57 ncRNA_exonic rs11543936 PAXIP1-AS2 AU 0.416933 0.2629 Uncertain 7_154720274_A->G 7 154720274 154720274 A G snp 82.77 0/1 99 8 4 4 0.5 ncRNA_exonic rs56348758 PAXIP1-AS2 AU 0.0473243 0.0079 Uncertain 7_154753854_A->G 7 154753854 154753854 A G snp 74.77 0/1 99 7 4 3 0.43 intronic rs2293261 PAXIP1 AU NM_007349 exon12 c.18172-176A>G 0.564896 0.6062 Uncertain 7_154759380_C->A 7 154759380 154759380 C A snp 73.77 0/1 30 5 1 4 0.8 intronic rs140815058 PAXIP1 AU NM_007349 exon14 c.23667-145C>A 0.00379393 0.0099 Uncertain 7_154759671_T->C 7 154759671 154759671 T C snp 274.77 0/1 99 42 27 15 0.36 intronic rs893942 PAXIP1 AU NM_007349 exon14 c.23762+51T>C 0.564297 0.6062 0.551763 Uncertain 7_154760369_A->G 7 154760369 154760369 A G snp 481.77 0/1 99 33 16 17 0.52 exonic rs935037 PAXIP1 AU synonymous SNV NM_007349 exon7 c.T1542C p.L514L 0.615415 0.6071 0.595901 0.5995 0.6185 Uncertain 7_154760669_-->TGCTGC 7 154760669 154760669 - TGCTGC indel 1910.73 0/1 99 58 22 36 0.62 exonic rs575209522 PAXIP1 AU nonframeshift insertion NM_007349 exon7 c.1241_1242insGCAGCA p.H414delinsQQH 0.00419329 0.0109 0.0027 0.0083 Uncertain 7_154777632_G->C 7 154777632 154777632 G C snp 885.77 0/1 99 75 41 34 0.45 intronic rs146797705 PAXIP1 AU NM_007349 exon17 c.39184+2590G>C 0.00379393 0.0099 Uncertain 7_154794483_CGGGGA->- 7 154794483 154794488 CGGGGA - indel 1333.73 0/1 99 35 17 18 0.51 intronic rs371145514 PAXIP1 AU NM_007349 exon21 c.58700-75_58700-70delCGGGGA 0.178914 0.1776 Uncertain 7_154860691_A->G 7 154860691 154860691 A G snp 71.77 0/1 99 9 6 3 0.33 ncRNA_exonic rs2698501 HTR5A-AS1 AU 0.278554 0.3968 Uncertain 7_154862188_A->G 7 154862188 154862188 A G snp 1042.77 0/1 99 99 51 48 0.48 ncRNA_intronic rs3823534 HTR5A-AS1 AU 0.354034 0.3978 0.3921 0.5 Uncertain 7_154862591_G->C 7 154862591 154862591 G C snp 3930.77 0/1 99 250 112 138 0.55 ncRNA_intronic rs1800883 HTR5A-AS1 AU 0.452276 0.5308 0.345456 0.4227 0.5092 ID=CR072315;DIS=Autism, association with;TAG=DP;PUB=17203304 DP Uncertain 7_154862621_T->A 7 154862621 154862621 T A snp 3135.77 0/1 99 250 126 124 0.5 exonic rs6320 HTR5A AU synonymous SNV NM_024012 exon1 c.T12A p.P4P 0.256989 0.3492 0.257650 0.2650 0.3926 Uncertain 7_154863425_C->T 7 154863425 154863425 C T snp 194.77 0/1 99 14 7 7 0.5 intronic rs2241860 HTR5A AU NM_024012 exon1 c.741+75C>T 0.0621006 0.1577 Uncertain 7_154876342_T->G 7 154876342 154876342 T G snp 105.77 0/1 99 12 8 4 0.33 UTR3 rs980442 HTR5A AU 0.734625 0.8373 Uncertain 7_154988584_C->T 7 154988584 154988584 C T snp 320.77 0/1 99 29 12 17 0.59 intergenic rs12530990 HTR5A AU 0.146765 0.1627 0.2022 0.1872 Uncertain 7_154988908_C->A 7 154988908 154988908 C A snp 886.77 0/1 99 90 51 39 0.43 intergenic rs7458114 HTR5A AU 0.171326 0.1627 Uncertain 7_154989054_C->T 7 154989054 154989054 C T snp 1237.77 0/1 99 91 39 52 0.57 intergenic rs2317164 HTR5A AU 0.171126 0.1617 0.2024 0.1872 Uncertain 7_154989807_T->C 7 154989807 154989807 T C snp 317.77 0/1 99 36 23 13 0.36 intergenic rs73176654 HTR5A AU 0.171326 0.1627 Uncertain 7_154990003_C->T 7 154990003 154990003 C T snp 1680.77 0/1 99 179 102 77 0.43 intergenic rs12532373 HTR5A AU 0.171326 0.1627 0.2081 0.1898 0 D -1.046 T Uncertain 7_155093826_T->C 7 155093826 155093826 T C snp 258.8 1/1 21 7 0 7 1.0 intronic rs77130377 INSIG1 AU NM_005542 exon4 c.3965-134T>C 0.969649 0.8581 Uncertain 7_155093925_A->T 7 155093925 155093925 A T snp 934.77 0/1 99 82 41 41 0.5 intronic rs73485859 INSIG1 AU NM_005542 exon4 c.3965-35A>T 0.0656949 0.121 0.035445 0.0315 0.1166 Uncertain 7_155150472_G->A 7 155150472 155150472 G A snp 2339.77 0/1 99 155 64 91 0.59 ncRNA_exonic rs3922604 BLACE AU 0.691294 0.6012 0.6899 0.5393 0 D -0.993 T Uncertain 7_155150560_A->G 7 155150560 155150560 A G snp 2677.77 0/1 99 250 134 116 0.46 ncRNA_exonic rs6605563 BLACE AU 0.697284 0.6389 0.6867 0.5806 Uncertain 7_155150602_T->C 7 155150602 155150602 T C snp 2558.77 0/1 99 250 144 106 0.42 ncRNA_exonic rs6605562 BLACE AU 0.697284 0.6389 0.6869 0.5854 Uncertain 7_155150765_C->T 7 155150765 155150765 C T snp 2783.77 0/1 99 248 136 112 0.45 ncRNA_exonic rs7456618 BLACE AU 0.502596 0.5942 0.4716 0.5354 0 D -0.970 T Uncertain 7_155174774_C->A 7 155174774 155174774 C A snp 968.77 1/1 75 31 0 31 1.0 intergenic rs1421324 BLACE AU 0.3127 0.6766 0.3022 0.6653 Uncertain 7_155174802_TGTGAG->- 7 155174802 155174807 TGTGAG - indel 3237.73 1/1 99 40 0 40 1.0 intergenic rs147883222 BLACE AU 0.282348 0.6766 0.3117 0.6598 Uncertain 7_155187698_C->T 7 155187698 155187698 C T snp 284.77 0/1 99 33 11 22 0.67 intergenic rs369952959 BLACE AU 0.0002 0.0028 Uncertain 7_155251183_G->A 7 155251183 155251183 G A snp 1061.77 0/1 99 85 38 47 0.55 exonic rs77846527 EN2 AU synonymous SNV NM_001427 exon1 c.G111A p.P37P 0.103834 0.0208 0.2733 0.1111 Uncertain 7_155251433_C->T 7 155251433 155251433 C T snp 512.77 0/1 99 34 15 19 0.56 exonic rs3735653 EN2 AU nonsynonymous SNV NM_001427 exon1 c.C361T p.L121F 0.409744 0.627 0.6129 0.5 0.71 T 0.0 P -0.928 T 0.435 T 0.06 T Pathogenic 7_155255332_T->C 7 155255332 155255332 T C snp 2579.77 0/1 99 217 116 101 0.47 exonic rs2361689 EN2 AU synonymous SNV NM_001427 exon2 c.T952C p.L318L 0.370407 0.2212 0.362888 0.4082 0.2787 Uncertain 7_155295854_G->A 7 155295854 155295854 G A snp 2444.77 1/1 99 66 0 66 1.0 intronic rs7804744 CNPY1 AU NM_001103176 exon1 c.38+54G>A 0.775958 0.9335 0.743208 Uncertain 7_155437441_G->A 7 155437441 155437441 G A snp 41.77 0/1 70 4 2 2 0.5 UTR5 RBM33 AU Uncertain 7_155437475_T->C 7 155437475 155437475 T C snp 40.77 0/1 69 5 3 2 0.4 UTR5 rs7786826 RBM33 AU 0.808107 0.7123 Uncertain 7_155437681_G->C 7 155437681 155437681 G C snp 791.77 0/1 99 94 57 37 0.39 intronic RBM33 AU NM_053043 exon1 c.43+68G>C Uncertain 7_155465422_C->G 7 155465422 155465422 C G snp 148.78 0/1 24 7 1 6 0.86 intronic rs7811556 RBM33 AU NM_053043 exon3 c.27990-138C>G 0.735823 0.7083 Uncertain 7_155499799_C->T 7 155499799 155499799 C T snp 38.77 0/1 67 6 4 2 0.33 intronic rs4716543 RBM33 AU NM_053043 exon7 c.62192+37C>T 0.314896 0.3095 0.267942 0.2952 0.2968 Uncertain 7_155500084_A->G 7 155500084 155500084 A G snp 1633.77 0/1 99 125 55 70 0.56 intronic rs10278893 RBM33 AU NM_053043 exon7 c.62192+322A>G 0.2502 0.2917 Uncertain 7_155500216_A->C 7 155500216 155500216 A C snp 80.77 0/1 66 6 3 3 0.5 intronic rs10279009 RBM33 AU NM_053043 exon7 c.62192+454A>C 0.349641 0.3115 Uncertain 7_155503920_A->T 7 155503920 155503920 A T snp 891.77 0/1 99 83 41 42 0.51 exonic rs7800753 RBM33 AU synonymous SNV NM_053043 exon8 c.A972T p.P324P 0.642971 0.6885 0.663696 0.6821 0.6863 0.949 P -1.097 T Likely benign 7_155530363_A->G 7 155530363 155530363 A G snp 1937.77 0/1 99 172 93 79 0.46 intronic rs2249337 RBM33 AU NM_053043 exon10 c.92786+7A>G 0.260982 0.3125 0.229326 0.2494 0.3310 Uncertain 7_155530497_C->A 7 155530497 155530497 C A snp 222.77 0/1 99 13 5 8 0.62 intronic rs2249328 RBM33 AU NM_053043 exon10 c.92786+141C>A 0.260982 0.3125 Uncertain 7_155530954_T->C 7 155530954 155530954 T C snp 2572.77 0/1 99 249 145 104 0.42 exonic rs2178428 RBM33 AU synonymous SNV NM_053043 exon11 c.T1594C p.L532L 0.317492 0.3125 0.289156 0.2443 0.3140 Uncertain 7_155531080_A->G 7 155531080 155531080 A G snp 1672.77 0/1 99 169 98 71 0.42 exonic rs3735576 RBM33 AU nonsynonymous SNV NM_053043 exon11 c.A1720G p.T574A 0.365415 0.3135 0.331087 0.2575 0.3127 1 T 0.999 P -0.933 T 0.0 T 0.001 T Pathogenic 7_155532361_G->A 7 155532361 155532361 G A snp 1026.77 0/1 99 84 36 48 0.57 intronic rs3801906 RBM33 AU NM_053043 exon12 c.94838-47G>A 0.260982 0.3125 0.231053 0.2393 0.3109 Uncertain 7_155559110_C->G 7 155559110 155559110 C G snp 219.77 0/1 99 14 7 7 0.5 intronic rs28529313 RBM33 AU NM_053043 exon16 c.121590-50C>G 0.194289 0.2907 0.162714 Uncertain 7_155559403_A->G 7 155559403 155559403 A G snp 691.77 0/1 99 51 23 28 0.55 intronic rs2272479 RBM33 AU NM_053043 exon16 c.121779+54A>G 0.264377 0.3105 0.2842 0.4035 Uncertain 7_155559524_G->A 7 155559524 155559524 G A snp 34.77 0/1 63 7 5 2 0.29 intronic rs35273790 RBM33 AU NM_053043 exon16 c.121779+175G>A 0.131989 0.2907 Uncertain 7_155593438_G->A 7 155593438 155593438 G A snp 1606.77 1/1 99 49 0 49 1.0 intergenic rs1233560 RBM33 AU 0.536142 0.7282 Uncertain 7_155598879_A->C 7 155598879 155598879 A C snp 1371.77 1/1 99 42 0 42 1.0 intronic rs1233554 SHH AU,AD NM_000193 exon2 c.3396-110A>C 0.84365 0.9802 Uncertain 7_155599300_C->T 7 155599300 155599300 C T snp 825.77 0/1 99 46 16 30 0.65 intronic rs1233555 SHH AU,AD NM_000193 exon2 c.3658+49C>T 0.47504 0.5853 0.452084 0.5823 0.6022 Uncertain 7_155747865_C->G 7 155747865 155747865 C G snp 950.77 0/1 99 72 39 33 0.46 intergenic rs7798508 SHH AU,AD 0.670927 0.5496 Uncertain 7_155747907_T->C 7 155747907 155747907 T C snp 1601.77 0/1 99 151 80 71 0.47 intergenic rs7810074 SHH AU,AD 0.679113 0.7232 Uncertain 7_155749951_C->T 7 155749951 155749951 C T snp 2032.77 0/1 99 161 72 89 0.55 intergenic rs35655547 SHH AU,AD 0.67512 0.7232 Uncertain 7_155749974_G->A 7 155749974 155749974 G A snp 1354.77 0/1 99 145 82 63 0.43 intergenic rs10440919 SHH AU,AD 0.209265 0.1716 Uncertain 7_155749975_C->A 7 155749975 155749975 C A snp 1353.77 0/1 99 145 81 64 0.44 intergenic rs10440920 SHH AU,AD 0.209665 0.1716 Uncertain 7_155750033_A->G 7 155750033 155750033 A G snp 2239.77 1/1 99 80 2 78 0.97 intergenic rs10256182 SHH AU,AD 0.998003 1 Uncertain 7_155755336_C->T 7 155755336 155755336 C T snp 1970.77 1/1 99 75 0 75 1.0 UTR5 rs7807731 LOC389602 AU 0.563698 0.6151 Uncertain 7_155755826_A->G 7 155755826 155755826 A G snp 340.77 0/1 99 30 14 16 0.53 exonic rs2007015 LOC389602 AU synonymous SNV NM_001291913 exon1 c.A303G p.S101S 0.70647 0.6002 0.7637 0.5426 Uncertain 7_155757502_T->C 7 155757502 155757502 T C snp 2805.77 1/1 99 87 0 87 1.0 exonic rs1551630 LOC389602 AU nonsynonymous SNV NM_001291913 exon2 c.T803C p.V268A 0.969649 1 0.9852 1 0 D -1.041 T Pathogenic 7_156432955_G->A 7 156432955 156432955 G A snp 5856.77 1/1 99 200 2 198 0.99 ncRNA_exonic rs79924697 C7orf13 AU 0.142173 0.2817 0.1156 0.2895 0 D 0.0 P -1.006 T 0.039 T 0.029 T Uncertain 7_156436769_C->T 7 156436769 156436769 C T snp 2067.77 1/1 99 69 0 69 1.0 intronic rs7804211 RNF32 AU NM_001184996 exon2 c.15+183C>T 0.744808 0.8313 Uncertain 7_156436865_G->A 7 156436865 156436865 G A snp 262.8 1/1 21 8 0 8 1.0 intronic rs7806832 RNF32 AU NM_001184996 exon2 c.15+279G>A 0.624401 0.7629 Uncertain 7_156518007_T->C 7 156518007 156518007 T C snp 904.77 1/1 66 26 0 26 1.0 intronic rs2072468 LMBR1 AR,AD NM_022458 exon4 c.41357-121T>C 0.478035 0.5079 Uncertain 7_156529062_-->AGT 7 156529062 156529062 - AGT indel 1085.73 1/1 54 18 0 18 1.0 intronic rs10640672 LMBR1 AR,AD NM_022458 exon8 c.50180+2111insAGT 0.797524 0.8383 Uncertain 7_156685545_-->C 7 156685545 156685545 - C indel 327.74 1/1 27 9 0 9 1.0 intronic rs200101319 LMBR1 AR,AD NM_022458 exon17 c.208850-76insC 0.98762 0.998 Uncertain 7_156798704_A->G 7 156798704 156798704 A G snp 873.77 1/1 66 26 0 26 1.0 intronic rs887607 MNX1 AD NM_001165255 exon1 c.354+137A>G 0.614617 0.5843 Uncertain 7_156932094_-->GGACTCGGGGTT 7 156932094 156932094 - GGACTCGGGGTT indel 5915.73 1/1 99 106 3 103 0.97 intronic rs200844106 UBE3C AU NM_014671 exon1 c.66+62insGGACTCGGGGTT 0.605232 0.6141 Uncertain 7_157049530_T->G 7 157049530 157049530 T G snp 1672.77 1/1 99 52 0 52 1.0 intronic rs1182373 UBE3C AU NM_014671 exon22 c.117641-77T>G 0.976837 0.9931 Uncertain 7_157151234_C->T 7 157151234 157151234 C T snp 860.77 1/1 63 25 0 25 1.0 intronic rs3802100 DNAJB6 AD 0.569089 0.746 0.534215 0.5734 0.7724 Uncertain 7_157151376_A->G 7 157151376 157151376 A G snp 1452.77 0/1 99 120 54 66 0.55 intronic rs3802099 DNAJB6 AD NM_005494 exon2 c.65+45A>G 0.063099 0.2212 0.010610 0.0309 0.1762 Uncertain 7_157156151_C->T 7 157156151 157156151 C T snp 218.77 0/1 99 21 13 8 0.38 intronic rs3802096 DNAJB6 AD NM_005494 exon3 c.4698+187C>T 0.384784 0.3929 Uncertain 7_157159423_G->A 7 157159423 157159423 G A snp 1375.77 1/1 99 41 0 41 1.0 intronic rs3779591 DNAJB6 AD NM_005494 exon4 c.7989+168G>A 0.573482 0.748 Uncertain 7_157160357_C->T 7 157160357 157160357 C T snp 258.77 0/1 99 13 5 8 0.62 intronic rs112203337 DNAJB6 AD NM_005494 exon5 c.8911+180C>T 0.0603035 0.2212 Uncertain 7_157162035_T->G 7 157162035 157162035 T G snp 1627.77 0/1 99 135 63 72 0.53 intronic rs73503270 DNAJB6 AD NM_005494 exon5 c.8911+1858T>G 0.066893 0.2331 0.0162 0.1970 Uncertain 7_157162068_T->C 7 157162068 157162068 T C snp 3211.76 1/1 99 123 1 122 0.99 intronic rs9692250 DNAJB6 AD NM_005494 exon5 c.8911+1891T>C 0.661542 0.755 0.5610 0.7677 Uncertain 7_157162103_A->G 7 157162103 157162103 A G snp 904.77 0/1 99 105 64 41 0.39 intronic rs12672981 DNAJB6 AD NM_005494 exon5 c.8911+1926A>G 0.447284 0.4018 0.4924 0.4293 Uncertain 7_157208617_C->T 7 157208617 157208617 C T snp 936.77 0/1 99 99 57 42 0.42 intronic rs1009135 DNAJB6 AD NM_058246 exon10 c.57443-92C>T 0.627796 0.7024 Uncertain 7_157234112_G->A 7 157234112 157234112 G A snp 1831.77 0/1 99 143 66 77 0.54 intergenic rs11977865 DNAJB6 AD 0.305312 0.2788 Uncertain 7_157234787_G->T 7 157234787 157234787 G T snp 69.77 0/1 98 11 7 4 0.36 intergenic rs12698061 DNAJB6 AD 0.463059 0.3958 Uncertain 7_157234816_A->G 7 157234816 157234816 A G snp 141.77 0/1 99 17 9 8 0.47 intergenic rs12698062 DNAJB6 AD 0.650958 0.5446 Uncertain 7_157234912_A->G 7 157234912 157234912 A G snp 196.77 0/1 99 21 11 10 0.48 intergenic rs12669046 DNAJB6 AD 0.641573 0.5218 Uncertain 7_157235035_C->T 7 157235035 157235035 C T snp 79.77 0/1 69 6 2 4 0.67 intergenic DNAJB6 AD Uncertain 7_157235229_T->C 7 157235229 157235229 T C snp 263.77 0/1 99 26 11 15 0.58 intergenic rs6974109 DNAJB6 AD 0.625599 0.5238 Uncertain 7_157261127_C->T 7 157261127 157261127 C T snp 185.77 0/1 91 9 3 6 0.67 ncRNA_exonic rs34002063 LOC101927914 AU 0.23742 0.2986 Uncertain 7_157261138_C->T 7 157261138 157261138 C T snp 143.77 0/1 99 13 8 5 0.38 ncRNA_exonic rs73744914 LOC101927914 AU 0.113818 0.125 Uncertain 7_157261201_T->G 7 157261201 157261201 T G snp 2710.77 1/1 99 95 0 95 1.0 ncRNA_exonic rs4716743 LOC101927914 AU 0.851238 0.9742 Uncertain 7_157261258_C->T 7 157261258 157261258 C T snp 4319.77 1/1 99 171 0 171 1.0 ncRNA_intronic rs4716744 LOC101927914 AU 0.847244 0.9583 Uncertain 7_157261275_C->T 7 157261275 157261275 C T snp 4712.77 1/1 99 188 0 188 1.0 ncRNA_intronic rs4716745 LOC101927914 AU 0.847244 0.9573 Uncertain 7_157261287_C->T 7 157261287 157261287 C T snp 2675.77 0/1 99 199 79 120 0.6 ncRNA_intronic rs113234474 LOC101927914 AU 0.0611022 0.125 Uncertain 7_157261292_A->G 7 157261292 157261292 A G snp 5264.77 1/1 99 198 0 198 1.0 ncRNA_intronic rs4716746 LOC101927914 AU 0.850439 0.9742 Uncertain 7_157261502_T->C 7 157261502 157261502 T C snp 611.77 1/1 48 16 0 16 1.0 ncRNA_intronic rs10254073 LOC101927914 AU 0.850639 0.9732 Uncertain 7_157261945_A->G 7 157261945 157261945 A G snp 2221.77 1/1 99 67 0 67 1.0 ncRNA_intronic rs2109830 LOC101927914 AU 0.852236 0.9752 Uncertain 7_157261953_-->G 7 157261953 157261953 - G indel 2971.73 1/1 99 74 0 74 1.0 ncRNA_intronic rs11449038 LOC101927914 AU 0.9998 1 Uncertain 7_157262170_T->C 7 157262170 157262170 T C snp 3050.77 1/1 99 101 0 101 1.0 ncRNA_intronic rs7801907 LOC101927914 AU 0.852236 0.9752 Uncertain 7_157262226_G->A 7 157262226 157262226 G A snp 919.77 1/1 69 30 0 30 1.0 ncRNA_intronic rs7778458 LOC101927914 AU 0.852236 0.9752 Uncertain 7_157262920_T->C 7 157262920 157262920 T C snp 104.28 1/1 9 5 0 5 1.0 ncRNA_intronic rs7806450 LOC101927914 AU 0.867412 0.9742 Uncertain 7_157263015_C->T 7 157263015 157263015 C T snp 158.78 0/1 24 13 1 12 0.92 ncRNA_intronic rs7784276 LOC101927914 AU 0.729034 0.8065 Uncertain 7_157263025_G->C 7 157263025 157263025 G C snp 160.9 1/1 15 10 0 10 1.0 ncRNA_intronic rs7783247 LOC101927914 AU 0.865615 0.9752 Uncertain 7_157263026_A->G 7 157263026 157263026 A G snp 195.84 1/1 18 10 0 10 1.0 ncRNA_intronic rs7802775 LOC101927914 AU 0.868011 0.9752 Uncertain 7_157263050_A->G 7 157263050 157263050 A G snp 199.84 1/1 18 10 0 10 1.0 ncRNA_intronic rs7802789 LOC101927914 AU Uncertain 7_157263093_G->C 7 157263093 157263093 G C snp 41.74 1/1 6 7 0 7 1.0 ncRNA_intronic rs7783385 LOC101927914 AU Uncertain 7_157263287_C->T 7 157263287 157263287 C T snp 137.03 1/1 12 6 1 5 0.83 ncRNA_intronic rs13227127 LOC101927914 AU Uncertain 7_157263297_G->C 7 157263297 157263297 G C snp 143.03 1/1 12 6 0 6 1.0 ncRNA_intronic rs13226319 LOC101927914 AU 0.618211 0.5952 Uncertain 7_157263323_T->C 7 157263323 157263323 T C snp 267.8 1/1 21 9 0 9 1.0 ncRNA_intronic rs13244067 LOC101927914 AU Uncertain 7_157263331_T->C 7 157263331 157263331 T C snp 285.78 1/1 24 10 0 10 1.0 ncRNA_intronic rs13244071 LOC101927914 AU Uncertain 7_157263349_C->T 7 157263349 157263349 C T snp 501.94 1/1 14 21 1 20 0.95 ncRNA_intronic rs13227150 LOC101927914 AU Uncertain 7_157263370_T->C 7 157263370 157263370 T C snp 869.77 1/1 69 32 0 32 1.0 ncRNA_intronic rs13244155 LOC101927914 AU Uncertain 7_157263391_G->T 7 157263391 157263391 G T snp 1243.77 1/1 93 55 0 55 1.0 ncRNA_intronic rs13226413 LOC101927914 AU 0.83107 0.9315 Uncertain 7_157263410_C->T 7 157263410 157263410 C T snp 775.77 0/1 99 64 29 35 0.55 ncRNA_intronic rs13227272 LOC101927914 AU 0.74361 0.8512 Uncertain 7_157263532_C->T 7 157263532 157263532 C T snp 363.77 0/1 99 41 23 18 0.44 ncRNA_intronic rs7785035 LOC101927914 AU 0.740216 0.8502 Uncertain 7_157318438_G->C 7 157318438 157318438 G C snp 648.77 0/1 99 45 23 22 0.49 intergenic rs11761852 LOC101927914 AU Uncertain 7_157318712_C->T 7 157318712 157318712 C T snp 1904.77 0/1 99 149 69 80 0.54 intergenic rs62475320 LOC101927914 AU 0.230232 0.3075 0.3301 0.3333 0.77 T -0.960 T Uncertain 7_157341557_C->- 7 157341557 157341557 C - indel 435.73 0/1 99 32 18 14 0.44 intronic rs3214337 PTPRN2 AU NM_130843 exon2 c.8232-82delC 0.466454 0.498 Uncertain 7_157361734_T->C 7 157361734 157361734 T C snp 2825.77 0/1 99 246 135 111 0.45 intronic rs221294 PTPRN2 AU NM_130843 exon3 c.28251+76T>C 0.936502 0.8482 Uncertain 7_157369564_C->G 7 157369564 157369564 C G snp 409.77 0/1 99 27 13 14 0.52 intronic rs221301 PTPRN2 AU NM_130843 exon5 c.36064+93C>G 0.735623 0.8075 Uncertain 7_157370688_C->G 7 157370688 157370688 C G snp 274.77 0/1 99 35 21 14 0.4 intronic rs122004 PTPRN2 AU NM_130843 exon6 c.37305-24C>G 0.918131 0.7897 0.971782 0.9365 0.7887 Uncertain 7_157406819_A->C 7 157406819 157406819 A C snp 464.77 0/1 99 50 31 19 0.38 intronic rs10247739 PTPRN2 AU NM_130843 exon9 c.80646-7234A>C 0.293131 0.2133 0.3978 0.1923 Uncertain 7_157414064_G->A 7 157414064 157414064 G A snp 1325.77 0/1 99 93 40 53 0.57 exonic rs1130502 PTPRN2 AU synonymous SNV NM_130842 exon14 c.C2283T p.A761A 0.452676 0.3571 0.546286 0.4331 0.3754 Uncertain 7_157414319_G->A 7 157414319 157414319 G A snp 2698.77 1/1 99 79 0 79 1.0 intronic rs12538975 PTPRN2 AU NM_130843 exon9 c.80794+118G>A 0.0491214 0.1577 Uncertain 7_157691523_T->C 7 157691523 157691523 T C snp 1557.77 0/1 99 137 71 66 0.48 intronic rs56112490 PTPRN2 AU NM_130843 exon12 c.358022+94T>C 0.237819 0.2986 Uncertain 7_157800744_G->A 7 157800744 157800744 G A snp 139.03 1/1 12 4 0 4 1.0 intronic rs28655116 PTPRN2 AU NM_130843 exon13 c.540582-73245G>A 0.789137 0.877 Uncertain 7_157800839_GT->- 7 157800839 157800840 GT - indel 3926.73 1/1 99 86 0 86 1.0 intronic rs143545915 PTPRN2 AU NM_130843 exon13 c.540582-73150_540582-73149delGT Uncertain 7_157800899_C->T 7 157800899 157800899 C T snp 5881.77 1/1 99 220 0 220 1.0 intronic rs12666418 PTPRN2 AU NM_130843 exon13 c.540582-73090C>T 0.806709 0.877 Uncertain 7_157873975_T->C 7 157873975 157873975 T C snp 513.77 0/1 99 44 24 20 0.45 intronic rs3800863 PTPRN2 AU NM_130843 exon13 c.540582-14T>C 0.725639 0.9187 0.628402 0.6913 0.9335 Uncertain 7_157903478_A->G 7 157903478 157903478 A G snp 1407.77 0/1 99 206 133 73 0.35 intronic rs3800861 PTPRN2 AU NM_002847 exon14 c.570113-42A>G 0.640176 0.6438 0.666902 0.6416 0.7028 Uncertain 7_157903504_C->T 7 157903504 157903504 C T snp 1277.77 0/1 99 193 128 65 0.34 intronic rs3800860 PTPRN2 AU NM_002847 exon14 c.570113-16C>T 0.215655 0.1399 0.269482 0.3229 0.1895 Uncertain 7_157903538_A->G 7 157903538 157903538 A G snp 1154.77 0/1 99 161 104 57 0.35 exonic rs1130501 PTPRN2 AU synonymous SNV NM_130842 exon9 c.T1575C p.S525S 0.265974 0.1399 0.332457 0.3843 0.2235 Uncertain 7_157959620_C->T 7 157959620 157959620 C T snp 517.77 1/1 39 23 0 23 1.0 splicing rs10277232 PTPRN2 AU NM_130843 exon17 c.626215-2C>T 0.342851 0.4087 0.321082 0.3934 0.4730 Pathogenic 7_157959636_G->A 7 157959636 157959636 G A snp 824.77 1/1 60 32 0 32 1.0 exonic rs1130498 PTPRN2 AU synonymous SNV NM_130842 exon5 c.C846T p.S282S 0.625 0.751 0.601090 0.6318 0.7739 Uncertain 7_157959879_C->T 7 157959879 157959879 C T snp 2933.77 1/1 99 104 0 104 1.0 exonic rs1130497 PTPRN2 AU synonymous SNV NM_130842 exon5 c.G603A p.P201P 0.339058 0.4087 0.344024 0.3967 0.4302 Uncertain 7_157959895_C->T 7 157959895 157959895 C T snp 3267.77 1/1 99 120 0 120 1.0 exonic rs1130496 PTPRN2 AU nonsynonymous SNV NM_130842 exon5 c.G587A p.R196H 0.338858 0.4087 0.344432 0.3966 0.4302 0.24 T 0.0 P -0.997 T 0.923 T 0.188 D Pathogenic 7_157959911_A->G 7 157959911 157959911 A G snp 3559.77 1/1 99 129 0 129 1.0 exonic rs1130495 PTPRN2 AU nonsynonymous SNV NM_130842 exon5 c.T571C p.S191P 0.871206 0.874 0.862064 0.8561 0.9169 0.25 T 0.0 P -1.030 T 0.0 T 0.001 T Pathogenic 7_158055797_CACACACACTG->- 7 158055797 158055807 CACACACACTG - indel 3767.73 1/1 90 30 0 30 1.0 intronic rs201239557 PTPRN2 AU NM_130843 exon20 c.776103-53713_776103-53703delCACACACACTG Uncertain 7_158055814_C->T 7 158055814 158055814 C T snp 724.77 0/1 99 50 14 36 0.72 intronic rs75193738 PTPRN2 AU NM_130843 exon20 c.776103-53696C>T Uncertain 7_158055814_-->AT 7 158055814 158055814 - AT indel 1721.73 1/1 99 50 0 50 1.0 intronic rs139835733 PTPRN2 AU NM_130843 exon20 c.776103-53696insAT Uncertain 7_158055851_CA->- 7 158055851 158055852 CA - indel 3729.73 1/1 99 79 0 79 1.0 intronic rs77811094 PTPRN2 AU NM_130843 exon20 c.776103-53659_776103-53658delCA 0.189097 0.1935 Uncertain 7_158325310_-->AA 7 158325310 158325310 - AA indel 1818.73 1/1 99 46 0 46 1.0 intronic rs397726033 PTPRN2 AU NM_130843 exon21 c.949070+42833insAA 0.0373403 0.0238 Uncertain 7_158325316_C->A 7 158325316 158325316 C A snp 1658.77 1/1 99 54 0 54 1.0 intronic rs34189096 PTPRN2 AU NM_130843 exon21 c.949070+42839C>A 0.519369 0.6101 Uncertain 7_158325338_G->A 7 158325338 158325338 G A snp 2315.77 1/1 99 79 0 79 1.0 intronic rs12670231 PTPRN2 AU NM_130843 exon21 c.949070+42861G>A 0.541933 0.6379 0.454227 Uncertain 7_158325572_T->C 7 158325572 158325572 T C snp 337.78 1/1 27 9 0 9 1.0 intronic rs4909238 PTPRN2 AU NM_130843 exon21 c.949070+43095T>C 0.551118 0.6835 0.454227 Uncertain 7_158384590_T->C 7 158384590 158384590 T C snp 1612.77 1/1 99 46 0 46 1.0 downstream rs10277152 MIR5707 AU 0.575879 0.6637 Uncertain 7_158424508_A->G 7 158424508 158424508 A G snp 603.77 1/1 45 17 0 17 1.0 intronic rs11973267 NCAPG2 AU NM_017760 exon1 c.52+99A>G 0.811701 0.9633 Uncertain 7_158433951_A->G 7 158433951 158433951 A G snp 93.28 1/1 9 3 0 3 1.0 UTR3 rs6942491 NCAPG2 AU 0.519968 0.4514 Uncertain 7_158438186_G->A 7 158438186 158438186 G A snp 2874.77 1/1 99 105 0 105 1.0 intronic rs2290393 NCAPG2 AU NM_017760 exon3 c.13853-24G>A 0.528754 0.4514 0.563436 0.5810 0.4627 Uncertain 7_158444975_T->G 7 158444975 158444975 T G snp 2027.77 1/1 99 76 0 76 1.0 intronic rs1466210 NCAPG2 AU NM_017760 exon6 c.20627-9T>G 0.801518 0.9583 0.718868 0.7492 0.9714 Uncertain 7_158445267_-->A 7 158445267 158445267 - A indel 132.87 1/1 15 5 0 5 1.0 intronic rs398039298 NCAPG2 AU NM_017760 exon6 c.20815+95insA 0.511581 0.4514 Uncertain 7_158450965_A->T 7 158450965 158450965 A T snp 3708.77 1/1 99 146 0 146 1.0 intronic rs12533939 NCAPG2 AU NM_017760 exon12 c.26672-64A>T 0.509185 0.4315 0.551905 Uncertain 7_158455089_G->A 7 158455089 158455089 G A snp 1175.77 1/1 84 43 0 43 1.0 intronic rs4484634 NCAPG2 AU NM_017760 exon13 c.30702+30G>A 0.960264 0.9692 0.914605 0.9189 0.9764 Uncertain 7_158456710_C->T 7 158456710 158456710 C T snp 176.9 1/1 15 6 0 6 1.0 intronic rs10227735 NCAPG2 AU NM_017760 exon14 c.32518-165C>T 0.917732 0.9514 Uncertain 7_158457095_G->C 7 158457095 158457095 G C snp 139.03 1/1 12 4 0 4 1.0 intronic rs2290392 NCAPG2 AU NM_017760 exon14 c.32631+107G>C 0.453474 0.4315 Uncertain 7_158473339_G->T 7 158473339 158473339 G T snp 1091.77 1/1 81 36 0 36 1.0 intronic rs2305470 NCAPG2 AU NM_017760 exon19 c.49055-73G>T 0.927316 0.9514 Uncertain 7_158476148_G->A 7 158476148 158476148 G A snp 5154.77 1/1 99 171 0 171 1.0 intronic rs6969248 NCAPG2 AU NM_017760 exon20 c.51721+70G>A 0.88778 0.8522 Uncertain 7_158480293_G->A 7 158480293 158480293 G A snp 99.28 1/1 9 3 0 3 1.0 intronic rs12532034 NCAPG2 AU NM_017760 exon22 c.55777+159G>A 0.905351 0.8522 Uncertain 7_158526880_G->A 7 158526880 158526880 G A snp 442.77 0/1 99 44 24 20 0.45 UTR3 rs3750051 ESYT2 AU 0.291933 0.5536 0.148470 0.1566 0.5486 Uncertain 7_158527051_T->C 7 158527051 158527051 T C snp 756.77 0/1 99 85 50 35 0.41 intronic rs3750052 ESYT2 AU NM_020728 exon2 c.215-61T>C 0.366613 0.6091 0.231056 Uncertain 7_158528158_C->G 7 158528158 158528158 C G snp 3079.77 1/1 99 114 0 114 1.0 intronic rs3816461 ESYT2 AU NM_020728 exon3 c.1296-35C>G 0.913139 0.9524 0.914347 0.9374 0.9468 Uncertain 7_158528170_G->A 7 158528170 158528170 G A snp 3159.77 1/1 99 123 0 123 1.0 intronic rs7787974 ESYT2 AU NM_020728 exon3 c.1296-23G>A 0.91893 0.9524 0.917269 0.9384 0.9467 Uncertain 7_158528233_A->G 7 158528233 158528233 A G snp 883.77 0/1 99 109 66 43 0.39 exonic rs3816462 ESYT2 AU synonymous SNV NM_020728 exon20 c.T2547C p.S849S 0.353435 0.6022 0.240735 0.2364 0.5876 Uncertain 7_158528443_T->G 7 158528443 158528443 T G snp 83.77 0/1 63 5 2 3 0.6 intronic rs3816463 ESYT2 AU NM_020728 exon3 c.1402+144T>G 0.337859 0.5873 Uncertain 7_158529560_C->T 7 158529560 158529560 C T snp 522.77 0/1 99 25 9 16 0.64 intronic rs6961811 ESYT2 AU NM_020728 exon4 c.2841-178C>T 0.336062 0.5843 Uncertain 7_158529668_C->G 7 158529668 158529668 C G snp 2257.77 0/1 99 183 87 96 0.52 intronic rs73526313 ESYT2 AU NM_020728 exon4 c.2841-70C>G 0.254992 0.5417 Uncertain 7_158529704_G->A 7 158529704 158529704 G A snp 3072.77 0/1 99 240 110 130 0.54 intronic rs6960873 ESYT2 AU NM_020728 exon4 c.2841-34G>A 0.336062 0.5843 0.229125 0.2309 0.5796 Uncertain 7_158529889_T->G 7 158529889 158529889 T G snp 1017.77 0/1 99 64 29 35 0.55 intronic rs2305467 ESYT2 AU NM_020728 exon4 c.2973+19T>G 0.336062 0.5843 0.229125 0.2308 0.5795 Uncertain 7_158531641_G->A 7 158531641 158531641 G A snp 431.77 0/1 99 29 14 15 0.52 intronic rs7803766 ESYT2 AU NM_020728 exon5 c.4816-72G>A 0.336262 0.5843 Uncertain 7_158531692_C->T 7 158531692 158531692 C T snp 959.77 0/1 99 78 39 39 0.5 intronic rs7804970 ESYT2 AU NM_020728 exon5 c.4816-21C>T 0.230048 0.2317 0.5809 Uncertain 7_158531888_G->A 7 158531888 158531888 G A snp 1577.77 0/1 99 118 52 66 0.56 intronic rs7780879 ESYT2 AU NM_020728 exon5 c.4915+76G>A 0.336062 0.5843 Uncertain 7_158531893_A->G 7 158531893 158531893 A G snp 1317.77 0/1 99 109 53 56 0.51 intronic rs7800556 ESYT2 AU NM_020728 exon5 c.4915+81A>G 0.336062 0.5843 Uncertain 7_158532007_T->C 7 158532007 158532007 T C snp 74.77 0/1 99 8 5 3 0.38 intronic rs7804422 ESYT2 AU NM_020728 exon5 c.4915+195T>C 0.336062 0.5843 Uncertain 7_158534163_-->G 7 158534163 158534163 - G indel 365.73 1/1 36 12 0 12 1.0 intronic rs397719392 ESYT2 AU NM_020728 exon6 c.7316-50insG 0.889377 0.9524 0.880633 0.9240 0.9453 Uncertain 7_158534372_G->A 7 158534372 158534372 G A snp 2910.77 0/1 99 250 137 113 0.45 exonic rs57686648 ESYT2 AU synonymous SNV NM_020728 exon17 c.C2091T p.A697A 0.319888 0.5774 0.207750 0.2169 0.5686 Uncertain 7_158534381_G->C 7 158534381 158534381 G C snp 2994.77 0/1 99 250 136 114 0.46 exonic rs59980573 ESYT2 AU synonymous SNV NM_020728 exon17 c.C2082G p.P694P 0.339657 0.5813 0.223897 0.2269 0.5721 Uncertain 7_158534691_TT->- 7 158534691 158534692 TT - indel 613.73 0/1 99 28 10 18 0.64 intronic rs34849374 ESYT2 AU NM_020728 exon6 c.7690+104_7690+105delTT 0.336262 0.5843 Uncertain 7_158534707_T->A 7 158534707 158534707 T A snp 283.77 0/1 99 17 5 12 0.71 intronic rs35420830 ESYT2 AU NM_020728 exon6 c.7690+120T>A 0.332268 0.5833 Uncertain 7_158536130_T->C 7 158536130 158536130 T C snp 304.77 0/1 99 15 6 9 0.6 intronic rs2305471 ESYT2 AU NM_020728 exon7 c.9322-89T>C 0.375998 0.5853 Uncertain 7_158536154_A->G 7 158536154 158536154 A G snp 490.77 0/1 99 27 11 16 0.59 intronic rs2305472 ESYT2 AU NM_020728 exon7 c.9322-65A>G 0.375799 0.5843 Uncertain 7_158536267_T->C 7 158536267 158536267 T C snp 1524.77 0/1 99 140 74 66 0.47 exonic rs2305473 ESYT2 AU nonsynonymous SNV NM_020728 exon16 c.A1828G p.S610G 0.335463 0.5843 0.228817 0.2301 0.5788 0.23 T 0.284 P -0.936 T 0.481 P 0.164 P Pathogenic 7_158536334_G->A 7 158536334 158536334 G A snp 1218.77 0/1 99 140 80 60 0.43 exonic rs2305474 ESYT2 AU synonymous SNV NM_020728 exon16 c.C1761T p.N587N 0.256989 0.5417 0.120944 0.1357 0.5383 Uncertain 7_158536345_A->G 7 158536345 158536345 A G snp 1150.77 0/1 99 135 82 53 0.39 exonic rs2305475 ESYT2 AU nonsynonymous SNV NM_020728 exon16 c.T1750C p.S584P 0.335863 0.5843 0.223512 0.2288 0.5737 0.02 T 0.994 P -0.916 T 0.991 D 0.804 D Pathogenic 7_158536376_A->C 7 158536376 158536376 A C snp 798.77 0/1 99 121 86 35 0.29 intronic rs2305476 ESYT2 AU NM_020728 exon7 c.9472+7A>C 0.335463 0.5843 0.213517 0.2257 0.5620 Uncertain 7_158536388_A->C 7 158536388 158536388 A C snp 720.77 0/1 99 110 77 33 0.3 intronic rs2305477 ESYT2 AU NM_020728 exon7 c.9472+19A>C 0.330072 0.5843 0.204905 0.2243 0.5540 0.000 P -0.970 T Uncertain 7_158536408_T->C 7 158536408 158536408 T C snp 578.77 0/1 99 90 65 25 0.28 intronic rs71547564 ESYT2 AU NM_020728 exon7 c.9472+39T>C 0.330072 0.5843 0.2234 0.5388 Uncertain 7_158536411_T->C 7 158536411 158536411 T C snp 558.77 0/1 99 89 65 24 0.27 intronic rs71547565 ESYT2 AU NM_020728 exon7 c.9472+42T>C 0.330072 0.5843 0.2230 0.5324 Uncertain 7_158536422_C->G 7 158536422 158536422 C G snp 520.77 0/1 99 82 60 22 0.27 intronic rs71547566 ESYT2 AU NM_020728 exon7 c.9472+53C>G 0.330072 0.5843 0.2168 0.5128 Uncertain 7_158536429_A->G 7 158536429 158536429 A G snp 535.77 0/1 99 77 55 22 0.29 intronic rs61362305 ESYT2 AU NM_020728 exon7 c.9472+60A>G 0.335863 0.5843 0.2187 0.5004 Uncertain 7_158536465_T->G 7 158536465 158536465 T G snp 196.77 0/1 99 59 47 12 0.2 intronic rs66795622 ESYT2 AU NM_020728 exon7 c.9472+96T>G 0.335863 0.5843 Uncertain 7_158536593_A->G 7 158536593 158536593 A G snp 37.77 0/1 66 4 2 2 0.5 intronic rs71547567 ESYT2 AU NM_020728 exon7 c.9472+224A>G 0.335863 0.5843 Uncertain 7_158540830_C->T 7 158540830 158540830 C T snp 272.77 0/1 99 38 24 14 0.37 intronic rs534331984 ESYT2 AU NM_020728 exon8 c.13987-54C>T 0.000199681 0.001 Uncertain 7_158552331_C->G 7 158552331 158552331 C G snp 1174.77 0/1 99 101 53 48 0.48 intronic rs896859 ESYT2 AU NM_020728 exon10 c.25375+59C>G 0.551318 0.3036 Uncertain 7_158552398_C->T 7 158552398 158552398 C T snp 308.77 0/1 99 33 22 11 0.33 intronic rs896860 ESYT2 AU NM_020728 exon10 c.25375+126C>T 0.739018 0.5258 Uncertain 7_158555706_C->T 7 158555706 158555706 C T snp 796.77 0/1 99 90 58 32 0.36 intronic rs844521 ESYT2 AU NM_020728 exon13 c.28876-67C>T 0.714058 0.5228 Uncertain 7_158555973_A->- 7 158555973 158555973 A - indel 175.87 1/1 15 5 0 5 1.0 intronic rs11353612 ESYT2 AU NM_020728 exon13 c.28959+117delA Uncertain 7_158560621_A->C 7 158560621 158560621 A C snp 433.77 0/1 99 46 29 17 0.37 intronic rs2602542 ESYT2 AU NM_020728 exon15 c.33568+156A>C 0.598442 0.4157 Uncertain 7_158566138_T->C 7 158566138 158566138 T C snp 1841.77 0/1 99 177 89 88 0.5 intronic rs842447 ESYT2 AU NM_020728 exon16 c.39190+51T>C 0.730431 0.5258 0.838229 0.8217 0.5345 Uncertain 7_158566217_C->T 7 158566217 158566217 C T snp 1065.77 0/1 99 97 52 45 0.46 intronic rs842448 ESYT2 AU NM_020728 exon16 c.39190+130C>T 0.730431 0.5258 Uncertain 7_158586138_T->C 7 158586138 158586138 T C snp 341.78 1/1 27 10 0 10 1.0 intronic rs2602552 ESYT2 AU NM_020728 exon19 c.59443-202T>C 0.927915 0.9524 Uncertain 7_158590512_T->A 7 158590512 158590512 T A snp 887.77 1/1 66 28 0 28 1.0 intronic rs2788501 ESYT2 AU NM_020728 exon20 c.63735-120T>A 0.927716 0.9524 Uncertain 7_158590547_-->A 7 158590547 158590547 - A indel 797.92 0/1 5 54 7 47 0.87 intronic rs11404991 ESYT2 AU NM_020728 exon20 c.63735-85insA 0.598243 0.6131 Uncertain 7_158591851_C->T 7 158591851 158591851 C T snp 559.77 1/1 42 16 0 16 1.0 intronic rs2709855 ESYT2 AU NM_020728 exon21 c.64866+88C>T 0.927716 0.9524 Uncertain 7_158621637_G->A 7 158621637 158621637 G A snp 117.8 0/1 21 6 1 5 0.83 intronic rs4599756 ESYT2 AU NM_020728 exon22 c.94882-142G>A 0.299521 0.5337 Uncertain 7_158622413_C->T 7 158622413 158622413 C T snp 33.77 0/1 62 4 2 2 0.5 upstream rs115040231 ESYT2 AU 0.19369 0.4286 Uncertain 7_158622481_T->C 7 158622481 158622481 T C snp 366.77 0/1 99 29 16 13 0.45 upstream rs74811915 ESYT2 AU 0.20627 0.4286 0.2296 0.5357 Uncertain 7_158649280_T->C 7 158649280 158649280 T C snp 145.77 0/1 99 21 13 8 0.38 UTR5 rs2788473 WDR60 AR 0.427316 0.5675 Uncertain 7_158649304_T->C 7 158649304 158649304 T C snp 373.77 0/1 99 35 19 16 0.46 UTR5 rs2788472 WDR60 AR 0.427316 0.5675 Uncertain 7_158649373_A->G 7 158649373 158649373 A G snp 542.77 0/1 99 54 27 27 0.5 UTR5 rs2657385 WDR60 AR 0.513578 0.6974 Uncertain 7_158662511_-->TTTAAAC 7 158662511 158662511 - TTTAAAC indel 672.73 0/1 99 20 12 8 0.4 intronic rs3057377 WDR60 AR NM_018051 exon2 c.13119-34insTTTAAAC 0.546725 0.6885 0.428381 0.4099 0.6609 Uncertain 7_158662698_T->C 7 158662698 158662698 T C snp 1832.77 0/1 99 153 70 83 0.54 intronic rs842696 WDR60 AR NM_018051 exon2 c.13173+99T>C 0.523363 0.6885 Uncertain 7_158672476_C->G 7 158672476 158672476 C G snp 2409.77 1/1 99 88 0 88 1.0 exonic rs2709859 WDR60 AR nonsynonymous SNV NM_018051 exon5 c.C675G p.N225K 0.995807 1 0.990964 0.9920 1 0.83 T 0.0 P -1.012 T 0.0 T 0.0 T Pathogenic 7_158672619_A->G 7 158672619 158672619 A G snp 867.77 0/1 99 115 73 42 0.37 exonic rs2788478 WDR60 AR nonsynonymous SNV NM_018051 exon5 c.A818G p.Q273R 0.573682 0.7212 0.457031 0.4410 0.7098 1 T 0.0 P -0.973 T 0.0 T 0.0 T Pathogenic 7_158679944_ATTG->- 7 158679944 158679947 ATTG - indel 781.73 0/1 99 45 19 26 0.58 intronic rs10540414 WDR60 AR NM_018051 exon7 c.30340+178_30340+181delATTG 0.254792 0.4802 Uncertain 7_158683825_T->C 7 158683825 158683825 T C snp 46.77 0/1 31 3 1 2 0.67 intronic rs2657364 WDR60 AR NM_018051 exon8 c.34529-130T>C 0.573482 0.7212 Uncertain 7_158684152_A->G 7 158684152 158684152 A G snp 1896.77 0/1 99 149 68 81 0.54 intronic rs12672574 WDR60 AR NM_018051 exon8 c.34598+128A>G 0.256789 0.4802 Uncertain 7_158704054_G->A 7 158704054 158704054 G A snp 159.77 0/1 63 7 2 5 0.71 intronic rs3815215 WDR60 AR NM_018051 exon12 c.54814-186G>A 0.322484 0.5129 Uncertain 7_158705801_C->G 7 158705801 158705801 C G snp 2110.77 0/1 99 178 87 91 0.51 intronic rs200349835 WDR60 AR NM_018051 exon13 c.56361+14C>G 0.0001 0.0019 Uncertain 7_158711295_T->C 7 158711295 158711295 T C snp 326.77 0/1 99 35 22 13 0.37 intronic rs2301900 WDR60 AR NM_018051 exon15 c.62004-135T>C 0.242212 0.4444 Uncertain 7_158711644_T->- 7 158711644 158711644 T - indel 422.73 0/1 99 17 4 13 0.76 intronic rs3216979 WDR60 AR NM_018051 exon15 c.62134+84delT 0.231829 0.4444 Uncertain 7_158715219_A->G 7 158715219 158715219 A G snp 2229.77 1/1 99 74 0 74 1.0 exonic rs2730238 WDR60 AR synonymous SNV NM_018051 exon16 c.A2073G p.K691K 0.886182 0.9464 0.849225 0.8419 0.9480 Uncertain 7_158715264_A->G 7 158715264 158715264 A G snp 506.77 0/1 99 35 16 19 0.54 intronic rs6459913 WDR60 AR NM_018051 exon16 c.65814+24A>G 0.434904 0.624 0.340477 0.3310 0.5908 Uncertain 7_158718793_A->G 7 158718793 158718793 A G snp 150.77 0/1 99 21 15 6 0.29 intronic rs2527188 WDR60 AR NM_018051 exon18 c.69451-84A>G 0.407348 0.3125 Uncertain 7_158718805_T->C 7 158718805 158718805 T C snp 324.77 0/1 99 36 25 11 0.31 intronic rs2527189 WDR60 AR NM_018051 exon18 c.69451-72T>C 0.116414 0.1696 Uncertain 7_158719084_C->T 7 158719084 158719084 C T snp 2200.77 1/1 99 71 0 71 1.0 intronic rs2244789 WDR60 AR NM_018051 exon19 c.69666-8C>T 0.780551 0.9187 0.762742 0.7931 0.9152 Uncertain 7_158719253_G->A 7 158719253 158719253 G A snp 56.74 1/1 6 2 0 2 1.0 intronic rs3815214 WDR60 AR NM_018051 exon19 c.69728+99G>A 0.407149 0.5337 Uncertain 7_158719791_A->C 7 158719791 158719791 A C snp 153.77 0/1 99 12 5 7 0.58 intronic rs189212243 WDR60 AR NM_018051 exon20 c.70308+57A>C 0.00339457 0.0169 Uncertain 7_158723014_T->C 7 158723014 158723014 T C snp 162.77 0/1 99 18 12 6 0.33 intronic rs2730241 WDR60 AR NM_018051 exon21 c.73719-131T>C 0.618011 0.501 Uncertain 7_158726655_G->A 7 158726655 158726655 G A snp 46.77 0/1 33 3 1 2 0.67 intronic rs2657330 WDR60 AR NM_018051 exon22 c.77393-164G>A 0.400759 0.3383 Uncertain 7_158726798_-->C 7 158726798 158726798 - C indel 2869.73 1/1 99 65 0 65 1.0 intronic rs34181207 WDR60 AR NM_018051 exon22 c.77393-21insC 0.88738 0.9454 0.844006 0.8435 0.9477 Uncertain 7_158727015_-->T 7 158727015 158727015 - T indel 1934.73 1/1 99 51 0 51 1.0 intronic rs35962377 WDR60 AR NM_018051 exon23 c.77682-93insT 0.874401 0.9454 Uncertain 7_158727276_T->A 7 158727276 158727276 T A snp 773.77 0/1 99 52 26 26 0.5 intronic rs2657331 WDR60 AR NM_018051 exon23 c.77814+36T>A 0.448083 0.3581 0.444317 0.5241 0.3388 Uncertain 7_158727303_G->T 7 158727303 158727303 G T snp 101.77 0/1 99 15 10 5 0.33 intronic rs2657332 WDR60 AR NM_018051 exon23 c.77814+63G>T 0.395966 0.3145 Uncertain 7_158827326_G->A 7 158827326 158827326 G A snp 2236.77 1/1 99 77 0 77 1.0 exonic rs2071624 VIPR2 AU synonymous SNV NM_003382 exon9 c.C825T p.N275N 0.347244 0.5962 0.190758 0.2645 0.6098 Uncertain 7_158827401_A->G 7 158827401 158827401 A G snp 990.77 1/1 72 33 0 33 1.0 intronic rs1017033 VIPR2 AU NM_003382 exon5 c.4035+60A>G 0.920527 0.999 0.882392 Uncertain 7_158827414_T->C 7 158827414 158827414 T C snp 636.77 1/1 48 23 0 23 1.0 intronic rs2071623 VIPR2 AU NM_003382 exon5 c.4035+73T>C 0.347843 0.5923 Uncertain 7_158829285_T->C 7 158829285 158829285 T C snp 513.77 1/1 39 16 0 16 1.0 intronic rs2730223 VIPR2 AU NM_003382 exon7 c.6136-157T>C 0.948682 0.999 Uncertain 7_158835631_A->G 7 158835631 158835631 A G snp 1547.77 1/1 99 52 0 52 1.0 intronic rs2540353 VIPR2 AU NM_003382 exon8 c.12419-94A>G 0.854633 0.994 Uncertain 7_158851234_T->G 7 158851234 158851234 T G snp 4097.77 1/1 99 143 0 143 1.0 exonic rs2098349 VIPR2 AU synonymous SNV NM_003382 exon5 c.A393C p.T131T 0.839657 0.999 0.813240 0.9061 0.9994 Uncertain 7_158851804_C->T 7 158851804 158851804 C T snp 1679.77 1/1 99 50 0 50 1.0 intronic rs2730257 VIPR2 AU NM_003382 exon9 c.27963+535C>T 0.839457 0.999 Uncertain 7_158930629_T->C 7 158930629 158930629 T C snp 2702.77 1/1 99 90 0 90 1.0 intronic rs3812310 VIPR2 AU NM_003382 exon12 c.111831-4508T>C 0.356629 0.2917 Uncertain 7_158930751_T->C 7 158930751 158930751 T C snp 3331.77 1/1 99 119 0 119 1.0 intronic rs3812311 VIPR2 AU NM_003382 exon12 c.111831-4386T>C 0.35623 0.2917 Uncertain 7_158935333_G->C 7 158935333 158935333 G C snp 438.77 1/1 33 12 0 12 1.0 intronic rs439204 VIPR2 AU NM_003382 exon12 c.111931+96G>C 1 1 Uncertain 7_158937357_G->C 7 158937357 158937357 G C snp 374.77 0/1 99 35 19 16 0.46 intronic rs74699763 VIPR2 AU NM_003382 exon13 c.114106-55G>C 0.0634984 0.1339 0.0306 0.2083 1 N -1.075 T Uncertain 8_182934_T->C 8 182934 182934 T C snp 702.77 0/1 99 81 55 26 0.32 intronic rs2906325 ZNF596 AU Uncertain 8_182949_C->A 8 182949 182949 C A snp 1009.77 0/1 99 100 60 40 0.4 intronic rs3008280 ZNF596 AU Uncertain 8_193863_G->A 8 193863 193863 G A snp 625.77 0/1 99 67 38 29 0.43 intronic rs139023112 ZNF596 AU NM_001287254 exon4 c.2910+58G>A 0.00379393 0.0188 0.0013 0.0174 Uncertain 8_194596_-->T 8 194596 194596 - T indel 475.73 0/1 99 54 26 28 0.52 intronic rs149135623 ZNF596 AU NM_001287254 exon5 c.3723-22insT 0.140375 0.119 0.1527 0.1852 Uncertain 8_194884_C->T 8 194884 194884 C T snp 299.77 0/1 99 18 8 10 0.56 intronic rs2906331 ZNF596 AU NM_001287254 exon5 c.3806+183C>T 0.538738 0.5159 Uncertain 8_280241_A->G 8 280241 280241 A G snp 3561.77 1/1 99 134 1 133 0.99 intergenic rs7388619 ZNF596 AU 0.772963 0.8254 0.6775 0.8196 Uncertain 8_400168_C->G 8 400168 400168 C G snp 124.77 0/1 99 9 3 6 0.67 intronic rs2290073 FBXO25 AU NM_183421 exon6 c.37004+85C>G 0.100639 0.0883 Uncertain 8_413193_T->C 8 413193 413193 T C snp 1818.77 0/1 99 103 30 73 0.71 intronic rs3735924 FBXO25 AU NM_183421 exon9 c.50071+43T>C 0.173522 0.1002 0.169306 0.1475 0.1117 Uncertain 8_413288_A->G 8 413288 413288 A G snp 80.77 0/1 67 5 2 3 0.6 intronic rs3735923 FBXO25 AU NM_183421 exon9 c.50071+138A>G 0.172923 0.1002 Uncertain 8_417533_A->C 8 417533 417533 A C snp 272.77 0/1 99 24 14 10 0.42 intronic rs874074 FBXO25 AU NM_183421 exon10 c.54640-186A>C 0.119609 0.0972 Uncertain 8_417836_G->T 8 417836 417836 G T snp 1927.77 0/1 99 141 71 70 0.5 intronic rs17745485 FBXO25 AU NM_183421 exon10 c.54667+90G>T 0.11861 0.0972 Uncertain 8_441457_C->T 8 441457 441457 C T snp 480.77 0/1 99 48 26 22 0.46 UTR3 rs1064416 TDRP AU 0.534545 0.3671 Uncertain 8_494659_GGCGGC->- 8 494659 494664 GGCGGC - indel 1088.73 0/1 99 19 4 15 0.79 exonic rs71202629 TDRP AU nonframeshift deletion NM_001256113 exon1 c.94_99del p.32_33del 0.225639 0.1677 0.4796 0.2857 ID=COSM128722;OCCURENCE=1(upper_aerodigestive_tract),1(liver),1(endometrium) Uncertain 8_494804_C->G 8 494804 494804 C G snp 189.77 0/1 99 22 12 10 0.45 UTR5 rs10105131 TDRP AU 0.708866 0.7262 0.763131 0.7377 0.6667 Uncertain 8_566417_C->T 8 566417 566417 C T snp 56.74 1/1 6 2 0 2 1.0 UTR3 rs13276545 ERICH1 AU 0.850839 0.9901 Uncertain 8_566429_A->C 8 566429 566429 A C snp 178.9 1/1 15 5 0 5 1.0 UTR3 rs13255197 ERICH1 AU 0.855631 0.9901 Uncertain 8_566432_C->G 8 566432 566432 C G snp 238.03 0/1 12 9 1 8 0.89 UTR3 rs13276566 ERICH1 AU 0.852037 0.9881 Uncertain 8_566460_C->G 8 566460 566460 C G snp 483.77 1/1 36 15 0 15 1.0 UTR3 rs13276586 ERICH1 AU 0.857228 0.9901 Uncertain 8_566619_A->G 8 566619 566619 A G snp 989.77 1/1 72 39 0 39 1.0 intronic rs68122960 ERICH1 AU NM_001303100 exon1 c.11+38A>G 0.85643 0.9901 0.7673 0.9930 Uncertain 8_577101_A->G 8 577101 577101 A G snp 1252.77 1/1 90 43 0 43 1.0 intronic rs336433 ERICH1 AU NM_001303100 exon1 c.11+10520A>G 0.766773 0.8403 0.6654 0.8712 Uncertain 8_577249_G->C 8 577249 577249 G C snp 545.77 0/1 99 51 26 25 0.49 intronic rs12547464 ERICH1 AU NM_001303100 exon1 c.11+10668G>C 0.177316 0.1131 0.2944 0.0970 Uncertain 8_577423_C->A 8 577423 577423 C A snp 40.77 0/1 33 3 1 2 0.67 intronic rs35017864 ERICH1 AU NM_001303100 exon1 c.11+10842C>A 0.291134 0.38 Uncertain 8_607380_A->G 8 607380 607380 A G snp 212.84 1/1 18 6 0 6 1.0 intronic rs1669658 ERICH1 AU NM_001303100 exon2 c.52027-11217A>G 0.938898 0.9345 Uncertain 8_607766_C->G 8 607766 607766 C G snp 4305.77 1/1 99 149 0 149 1.0 intronic rs4735812 ERICH1 AU NM_001303100 exon2 c.52027-10831C>G 0.939097 0.9345 Uncertain 8_608018_C->T 8 608018 608018 C T snp 4297.77 1/1 99 156 0 156 1.0 intronic rs6993769 ERICH1 AU NM_001303100 exon2 c.52027-10579C>T 0.482029 0.5536 Uncertain 8_608034_T->C 8 608034 608034 T C snp 4248.77 1/1 99 155 0 155 1.0 intronic rs10090260 ERICH1 AU NM_001303100 exon2 c.52027-10563T>C 0.916334 0.9335 Uncertain 8_608279_A->G 8 608279 608279 A G snp 46.74 1/1 6 2 0 2 1.0 intronic rs1703925 ERICH1 AU NM_001303100 exon2 c.52027-10318A>G 0.938898 0.9345 Uncertain 8_609775_A->G 8 609775 609775 A G snp 1148.77 1/1 90 41 0 41 1.0 intronic rs1703922 ERICH1 AU NM_001303100 exon2 c.52027-8822A>G Uncertain 8_609835_ATCCTGGGGAGGGGGTGACCATCGAGATCTCCAGTGTGCACTGAAT->- 8 609835 609880 ATCCTGGGGAGGGGGTGACCATCGAGATCTCCAGTGTGCACTGAAT - indel 41145.7 1/1 99 162 1 161 0.99 intronic ERICH1 AU NM_001303100 exon2 c.52027-8762_52027-8717delATCCTGGGGAGGGGGTGACCATCGAGATCTCCAGTGTGCACTGAAT Uncertain 8_618728_A->G 8 618728 618728 A G snp 2005.77 1/1 99 64 1 63 0.98 exonic rs2271263 ERICH1 AU synonymous SNV NM_001303100 exon5 c.T1128C p.L376L 0.853683 0.8789 0.9470 0 D 1.000 P -1.041 T Likely benign 8_623156_G->C 8 623156 623156 G C snp 93.28 1/1 9 3 0 3 1.0 intronic rs6559065 ERICH1 AU NM_207332 exon3 c.8686-132G>C 0.923323 0.9335 Uncertain 8_676183_T->C 8 676183 676183 T C snp 3415.77 1/1 99 126 0 126 1.0 intronic rs4735915 ERICH1 AU NM_207332 exon6 c.66537-4956T>C 0.232029 0.4821 Uncertain 8_676308_G->A 8 676308 676308 G A snp 4790.77 1/1 99 177 0 177 1.0 intronic rs56948427 ERICH1 AU NM_207332 exon6 c.66537-4831G>A 0.218251 0.4812 Uncertain 8_677305_G->A 8 677305 677305 G A snp 1064.77 1/1 78 36 1 35 0.97 intronic rs4735916 ERICH1 AU NM_207332 exon6 c.66537-3834G>A 0.216853 0.4712 Uncertain 8_960303_-->CA 8 960303 960303 - CA indel 1949.73 0/1 99 88 42 46 0.52 ncRNA_intronic rs35654511 ERICH1-AS1 AU 0.401158 0.4196 Uncertain 8_1496767_C->G 8 1496767 1496767 C G snp 1459.77 0/1 99 162 90 72 0.44 intronic rs2906568 DLGAP2 AU 0.492412 0.4137 0.6164 0.5687 Uncertain 8_1496788_A->G 8 1496788 1496788 A G snp 1772.77 0/1 99 191 108 83 0.43 splicing rs2906569 DLGAP2 AU 0.430911 0.3869 0.5762 0.5225 Pathogenic 8_1514009_C->A 8 1514009 1514009 C A snp 290.77 0/1 99 32 21 11 0.34 exonic rs2301963 DLGAP2 AU nonsynonymous SNV NM_004745 exon3 c.C1151A p.P384Q 0.460663 0.4484 0.422526 0.4943 0.4829 0.03 T 0.439 P -0.891 T 0.976 D 0.636 D Pathogenic 8_1645536_T->C 8 1645536 1645536 T C snp 2718.77 0/1 99 219 104 115 0.53 intronic rs2293909 DLGAP2 AU NM_004745 exon11 c.148606+71T>C 0.276558 0.2867 Uncertain 8_1645586_A->G 8 1645586 1645586 A G snp 1215.77 0/1 99 100 51 49 0.49 intronic rs185097750 DLGAP2 AU NM_004745 exon11 c.148606+121A>G 0.000798722 0.004 Uncertain 8_1749388_C->T 8 1749388 1749388 C T snp 2500.77 1/1 99 92 0 92 1.0 downstream rs7017381 MIR3674 AU 0.647963 0.6111 0.6978 0.6212 Uncertain 8_1749410_T->A 8 1749410 1749410 T A snp 2689.77 1/1 99 99 0 99 1.0 downstream rs7003112 MIR3674 AU 0.648163 0.6111 Uncertain 8_1749513_C->T 8 1749513 1749513 C T snp 1129.77 1/1 81 36 0 36 1.0 downstream rs12541297 MIR3674 AU 0.644768 0.6091 Uncertain 8_1791433_C->T 8 1791433 1791433 C T snp 433.77 0/1 99 45 26 19 0.42 intronic rs11136431 ARHGEF10 AD 0.422324 0.4593 Uncertain 8_1791638_T->G 8 1791638 1791638 T G snp 262.77 0/1 99 29 17 12 0.41 intronic rs11136432 ARHGEF10 AD NM_014629 exon2 c.37+36T>G 0.392772 0.4187 0.454084 0.4890 0.4103 Uncertain 8_1791663_G->A 8 1791663 1791663 G A snp 211.77 0/1 99 20 11 9 0.45 intronic rs11136433 ARHGEF10 AD NM_014629 exon2 c.37+61G>A 0.376797 0.4018 0.428822 Uncertain 8_1791672_C->T 8 1791672 1791672 C T snp 208.77 0/1 99 18 9 9 0.5 intronic rs11136434 ARHGEF10 AD NM_014629 exon2 c.37+70C>T 0.375998 0.4008 0.426786 Uncertain 8_1791685_A->G 8 1791685 1791685 A G snp 223.77 0/1 99 17 8 9 0.53 intronic rs11136435 ARHGEF10 AD NM_014629 exon2 c.37+83A>G 0.360423 0.4048 0.412100 Uncertain 8_1806229_A->C 8 1806229 1806229 A C snp 992.77 0/1 99 115 70 45 0.39 exonic rs4875950 ARHGEF10 AD synonymous SNV NM_014629 exon3 c.A141C p.P47P 0.305711 0.2421 0.297555 0.3039 0.2620 Uncertain 8_1806333_A->G 8 1806333 1806333 A G snp 600.77 1/1 45 17 0 17 1.0 intronic rs56203106 ARHGEF10 AD NM_014629 exon3 c.14716+52A>G 0.560503 0.5853 0.5315 0.5347 Uncertain 8_1808439_G->C 8 1808439 1808439 G C snp 99.28 1/1 9 3 0 3 1.0 intronic rs13275000 ARHGEF10 AD NM_014629 exon4 c.16785+89G>C 0.669329 0.7113 Uncertain 8_1808462_G->T 8 1808462 1808462 G T snp 54.74 1/1 6 2 0 2 1.0 intronic ARHGEF10 AD NM_014629 exon4 c.16785+112G>T Uncertain 8_1814571_AT->- 8 1814571 1814572 AT - indel 428.73 0/1 99 22 10 12 0.55 intronic rs376913717 ARHGEF10 AD NM_014629 exon6 c.23126-120_23126-119delAT 0.0561102 0.1597 Uncertain 8_1814589_ACAC->- 8 1814589 1814592 ACAC - indel 2004.73 ./1 99 24 0 24 1.0 intronic rs398006929 ARHGEF10 AD NM_014629 exon6 c.23126-102_23126-99delACAC Uncertain 8_1814589_ACACACACAC->- 8 1814589 1814598 ACACACACAC - indel 2004.73 ./1 99 24 0 24 1.0 intronic rs533819201 ARHGEF10 AD NM_014629 exon6 c.23126-102_23126-93delACACACACAC 0.0764776 0.3274 Uncertain 8_1814737_C->T 8 1814737 1814737 C T snp 835.77 0/1 99 65 29 36 0.55 exonic rs2272708 ARHGEF10 AD synonymous SNV NM_014629 exon6 c.C591T p.A197A 0.0347444 0.1528 0.004075 0.0144 0.1709 ID=COSM150436;OCCURENCE=1(stomach) Uncertain 8_1817314_G->C 8 1817314 1817314 G C snp 894.77 0/1 99 81 45 36 0.44 intronic rs7003839 ARHGEF10 AD NM_014629 exon7 c.25794-45G>C 0.198482 0.3681 0.189297 0.2230 0.3599 Uncertain 8_1817367_G->A 8 1817367 1817367 G A snp 4878.77 1/1 99 185 0 185 1.0 exonic rs7003969 ARHGEF10 AD synonymous SNV NM_014629 exon7 c.G630A p.E210E 0.235823 0.5179 0.195448 0.2382 0.5286 Uncertain 8_1817655_-->T 8 1817655 1817655 - T indel 203.8 1/1 18 6 0 6 1.0 intronic rs34413327 ARHGEF10 AD NM_014629 exon7 c.25851+239insT 0.329673 0.5665 Uncertain 8_1824596_G->C 8 1824596 1824596 G C snp 359.78 1/1 27 12 0 12 1.0 intronic rs4875944 ARHGEF10 AD NM_014629 exon8 c.33171-140G>C 0.417732 0.6538 Uncertain 8_1828178_C->G 8 1828178 1828178 C G snp 1388.77 0/1 99 100 48 52 0.52 intronic rs2272711 ARHGEF10 AD NM_014629 exon9 c.36648-35C>G 0.172923 0.2798 0.114563 0.1604 0.2727 Uncertain 8_1828450_T->C 8 1828450 1828450 T C snp 48.74 1/1 6 2 0 2 1.0 intronic rs11992813 ARHGEF10 AD NM_014629 exon9 c.36765+120T>C 0.73722 0.9692 Uncertain 8_1830794_G->A 8 1830794 1830794 G A snp 526.77 0/1 99 77 52 25 0.32 intronic rs2280886 ARHGEF10 AD NM_014629 exon10 c.39235-6G>A 0.167532 0.2907 0.094199 0.1786 0.3033 Uncertain 8_1830928_A->G 8 1830928 1830928 A G snp 1121.77 1/1 81 35 0 35 1.0 intronic rs4543586 ARHGEF10 AD NM_014629 exon10 c.39350+13A>G 0.742412 0.998 0.628412 0.6658 0.9985 Uncertain 8_1830957_G->- 8 1830957 1830957 G - indel 396.73 1/1 39 20 0 20 1.0 intronic rs34599746 ARHGEF10 AD NM_014629 exon10 c.39350+42delG 0.538139 0.6667 0.609909 0.6298 0.9575 Uncertain 8_1833691_TT->- 8 1833691 1833692 TT - indel 644.73 0/1 99 26 9 17 0.65 intronic rs398095551 ARHGEF10 AD NM_014629 exon11 c.42201-75_42201-74delTT 0.16873 0.2907 Uncertain 8_1833801_G->C 8 1833801 1833801 G C snp 1810.77 0/1 99 140 61 79 0.56 exonic rs9657362 ARHGEF10 AD nonsynonymous SNV NM_014629 exon11 c.G1110C p.L370F 0.168331 0.2907 0.108104 0.1594 0.2911 0.42 T 0.213 P -1.040 T 0.979 D 0.894 D ID=CM1411248;DIS=Peripheral neuropathy, chemotherapy-induced, protection against, association with;TAG=DP;PUB=25164601 DP Pathogenic 8_1833990_C->T 8 1833990 1833990 C T snp 356.77 0/1 99 40 24 16 0.4 intronic rs2294032 ARHGEF10 AD NM_014629 exon11 c.42308+117C>T 0.230032 0.4236 Uncertain 8_1846562_C->T 8 1846562 1846562 C T snp 1337.77 0/1 99 96 45 51 0.53 intronic rs755543 ARHGEF10 AD NM_014629 exon15 c.55033-36C>T 0.496206 0.4792 0.486158 0.4449 0.4790 Uncertain 8_1846688_C->T 8 1846688 1846688 C T snp 2808.77 0/1 99 250 125 125 0.5 exonic rs12681485 ARHGEF10 AD synonymous SNV NM_014629 exon15 c.C1647T p.L549L 0.0840655 0.2371 0.035445 0.0677 0.2209 Uncertain 8_1846907_C->T 8 1846907 1846907 C T snp 40.77 0/1 33 4 1 3 0.75 intronic rs3758011 ARHGEF10 AD NM_014629 exon15 c.55126+216C>T 0.16234 0.3264 Uncertain 8_1851382_C->T 8 1851382 1851382 C T snp 149.77 0/1 99 12 6 6 0.5 intronic rs2294034 ARHGEF10 AD NM_014629 exon16 c.59881-64C>T 0.0363419 0.0288 Uncertain 8_1851771_G->T 8 1851771 1851771 G T snp 46.77 0/1 33 3 1 2 0.67 intronic rs73542977 ARHGEF10 AD NM_014629 exon16 c.60052+154G>T 0.0341454 0.0288 Uncertain 8_1871896_G->C 8 1871896 1871896 G C snp 2709.77 0/1 99 250 143 107 0.43 intronic rs2272614 ARHGEF10 AD NM_014629 exon21 c.80374-43G>C 0.156949 0.0883 0.194987 0.2030 0.0956 Uncertain 8_1873540_C->T 8 1873540 1873540 C T snp 951.77 0/1 99 87 45 42 0.48 exonic rs2272613 ARHGEF10 AD synonymous SNV NM_014629 exon22 c.C2580T p.P860P 0.10643 0.3145 0.045287 0.0857 0.3345 Uncertain 8_1877320_G->C 8 1877320 1877320 G C snp 73.77 0/1 99 13 8 5 0.38 intronic rs139704510 ARHGEF10 AD NM_014629 exon25 c.85886-131G>C 0.00459265 0.0228 Uncertain 8_1882252_A->T 8 1882252 1882252 A T snp 197.77 0/1 60 9 2 7 0.78 intronic rs3758021 ARHGEF10 AD NM_014629 exon26 c.90543+144A>T 0.295527 0.5407 Uncertain 8_1882261_G->T 8 1882261 1882261 G T snp 197.77 0/1 54 9 2 7 0.78 intronic rs3758022 ARHGEF10 AD NM_014629 exon26 c.90543+153G>T 0.166534 0.1885 Uncertain 8_1900855_A->G 8 1900855 1900855 A G snp 1928.77 1/1 99 67 0 67 1.0 intronic rs7832438 ARHGEF10 AD NM_014629 exon28 c.109305-15A>G 0.949481 0.998 0.930583 0.9491 0.9988 Uncertain 8_1900911_C->T 8 1900911 1900911 C T snp 902.77 0/1 99 123 82 41 0.33 exonic rs2272608 ARHGEF10 AD synonymous SNV NM_014629 exon28 c.C3438T p.H1146H 0.215056 0.2123 0.183915 0.1619 0.2231 Uncertain 8_1901110_G->C 8 1901110 1901110 G C snp 1025.77 1/1 75 33 0 33 1.0 intronic rs4546706 ARHGEF10 AD NM_014629 exon28 c.109428+117G>C 0.942692 0.999 Uncertain 8_1901177_A->G 8 1901177 1901177 A G snp 182.9 1/1 15 6 0 6 1.0 intronic rs5025039 ARHGEF10 AD NM_014629 exon28 c.109428+184A>G 0.947284 0.999 Uncertain 8_2000428_G->T 8 2000428 2000428 G T snp 218.77 0/1 99 21 10 11 0.52 exonic MYOM2 AU nonsynonymous SNV NM_003970 exon3 c.G260T p.S87I 0.0754792 0.119 0.020529 0.0513 0.1410 0.17 T 0.0 P -1.088 T 0.016 T 0.013 T Pathogenic 8_2000512_C->T 8 2000512 2000512 C T snp 80.77 0/1 63 5 2 3 0.6 intronic MYOM2 AU NM_003970 exon3 c.1551+81C>T 0.076278 0.123 Uncertain 8_2005414_C->T 8 2005414 2005414 C T snp 378.77 1/1 30 12 0 12 1.0 intronic MYOM2 AU NM_003970 exon4 c.6585-51C>T 0.803914 0.9692 0.717126 Uncertain 8_2005624_G->A 8 2005624 2005624 G A snp 1573.77 0/1 99 157 87 70 0.45 intronic MYOM2 AU NM_003970 exon4 c.6724+20G>A 0.260982 0.2411 0.281870 0.3397 0.2435 Uncertain 8_2005676_A->G 8 2005676 2005676 A G snp 5321.77 1/1 99 181 0 181 1.0 intronic MYOM2 AU NM_003970 exon5 c.6860-64A>G 0.607228 0.4087 Uncertain 8_2007116_A->G 8 2007116 2007116 A G snp 704.77 1/1 54 18 0 18 1.0 intronic MYOM2 AU NM_003970 exon6 c.8393-157A>G 0.886182 0.9702 Uncertain 8_2007230_A->C 8 2007230 2007230 A C snp 5914.77 1/1 99 211 0 211 1.0 intronic MYOM2 AU NM_003970 exon6 c.8393-43A>C 0.881989 0.9692 0.834077 0.8634 0.9720 Uncertain 8_2021421_G->T 8 2021421 2021421 G T snp 1599.77 0/1 99 144 74 70 0.49 exonic MYOM2 AU nonsynonymous SNV NM_003970 exon10 c.G961T p.V321L 0.279952 0.3601 0.316008 0.3778 0.3340 0.43 T 1.0 P -0.985 T 0.005 T 0.017 T Pathogenic 8_2024207_A->C 8 2024207 2024207 A C snp 1318.77 1/1 96 42 0 42 1.0 intronic MYOM2 AU NM_003970 exon11 c.25340-13A>C 0.950479 0.9692 0.965324 0.9677 0.9630 Uncertain 8_2024405_G->A 8 2024405 2024405 G A snp 401.77 0/1 99 54 37 17 0.31 intronic MYOM2 AU NM_003970 exon11 c.25482+43G>A 0.424121 0.378 0.431406 0.4466 0.4062 Uncertain 8_2024437_C->T 8 2024437 2024437 C T snp 188.77 0/1 99 25 17 8 0.32 intronic MYOM2 AU NM_003970 exon11 c.25482+75C>T 0.641573 0.5813 Uncertain 8_2024446_C->T 8 2024446 2024446 C T snp 171.77 0/1 99 19 13 6 0.32 intronic MYOM2 AU NM_003970 exon11 c.25482+84C>T 0.640176 0.5813 Uncertain 8_2024447_G->A 8 2024447 2024447 G A snp 174.77 0/1 99 18 12 6 0.33 intronic MYOM2 AU NM_003970 exon11 c.25482+85G>A 0.512181 0.4395 Uncertain 8_2033579_A->G 8 2033579 2033579 A G snp 955.77 0/1 99 61 25 36 0.59 intronic MYOM2 AU NM_003970 exon14 c.34642+57A>G 0.357029 0.377 Uncertain 8_2033625_T->C 8 2033625 2033625 T C snp 249.77 0/1 99 20 11 9 0.45 intronic MYOM2 AU NM_003970 exon14 c.34642+103T>C Uncertain 8_2033632_C->T 8 2033632 2033632 C T snp 210.77 0/1 99 16 9 7 0.44 intronic rs368792831 MYOM2 AU NM_003970 exon14 c.34642+110C>T Uncertain 8_2033641_T->C 8 2033641 2033641 T C snp 134.77 0/1 99 13 8 5 0.38 intronic MYOM2 AU NM_003970 exon14 c.34642+119T>C 0.488818 0.4494 Uncertain 8_2033653_C->T 8 2033653 2033653 C T snp 80.77 0/1 99 6 3 3 0.5 intronic MYOM2 AU NM_003970 exon14 c.34642+131C>T 0.306709 0.379 Uncertain 8_2033668_T->C 8 2033668 2033668 T C snp 77.77 0/1 99 6 3 3 0.5 intronic MYOM2 AU NM_003970 exon14 c.34642+146T>C Uncertain 8_2037707_C->T 8 2037707 2037707 C T snp 72.77 0/1 99 7 4 3 0.43 intronic MYOM2 AU NM_003970 exon15 c.38950-123C>T 0.0121805 0.0575 Uncertain 8_2040104_C->T 8 2040104 2040104 C T snp 1163.77 0/1 99 80 33 47 0.59 intronic MYOM2 AU NM_003970 exon16 c.41293-69C>T 0.355032 0.4325 Uncertain 8_2040337_T->C 8 2040337 2040337 T C snp 1804.77 1/1 99 62 0 62 1.0 exonic MYOM2 AU synonymous SNV NM_003970 exon16 c.T1992C p.I664I 0.983027 1 0.984392 0.9956 1 Uncertain 8_2040401_G->A 8 2040401 2040401 G A snp 152.77 0/1 99 11 5 6 0.55 intronic MYOM2 AU NM_003970 exon16 c.41468+53G>A 0.234824 0.249 Uncertain 8_2040415_G->A 8 2040415 2040415 G A snp 309.78 1/1 24 9 0 9 1.0 intronic MYOM2 AU NM_003970 exon16 c.41468+67G>A 0.574681 0.6488 Uncertain 8_2042070_T->C 8 2042070 2042070 T C snp 1103.77 1/1 81 33 0 33 1.0 intronic MYOM2 AU NM_003970 exon17 c.43038+152T>C 0.702676 0.6786 Uncertain 8_2044046_A->G 8 2044046 2044046 A G snp 1363.77 1/1 99 39 0 39 1.0 intronic MYOM2 AU NM_003970 exon18 c.45206-40A>G 0.256589 0.2798 0.193219 0.1652 0.2807 Uncertain 8_2044363_A->G 8 2044363 2044363 A G snp 1821.77 1/1 99 62 0 62 1.0 intronic MYOM2 AU NM_003970 exon18 c.45394+89A>G 0.564297 0.3889 Uncertain 8_2044376_G->A 8 2044376 2044376 G A snp 1517.77 1/1 99 48 0 48 1.0 intronic MYOM2 AU NM_003970 exon18 c.45394+102G>A 0.582668 0.4643 Uncertain 8_2044377_G->C 8 2044377 2044377 G C snp 1520.77 1/1 99 48 0 48 1.0 intronic MYOM2 AU NM_003970 exon18 c.45394+103G>C 0.560304 0.3909 Uncertain 8_2044426_C->A 8 2044426 2044426 C A snp 152.77 0/1 99 13 7 6 0.46 intronic MYOM2 AU NM_003970 exon18 c.45394+152C>A 0.540136 0.375 Uncertain 8_2046526_T->C 8 2046526 2046526 T C snp 96.77 0/1 99 18 12 6 0.33 intronic MYOM2 AU NM_003970 exon19 c.47806-160T>C 0.611222 0.4841 Uncertain 8_2046576_G->T 8 2046576 2046576 G T snp 621.77 0/1 99 59 31 28 0.47 intronic MYOM2 AU NM_003970 exon19 c.47806-110G>T 0.217652 0.2629 Uncertain 8_2046700_C->T 8 2046700 2046700 C T snp 1418.77 0/1 99 128 67 61 0.48 exonic MYOM2 AU nonsynonymous SNV NM_003970 exon19 c.C2327T p.T776M 0.165935 0.2629 0.138013 0.1563 0.2501 0.04 T 0.334 P -1.115 T 0.999 D 0.967 D Pathogenic 8_2046880_G->C 8 2046880 2046880 G C snp 107.77 0/1 99 11 7 4 0.36 intronic MYOM2 AU NM_003970 exon19 c.47933+67G>C 0.594249 0.4087 Uncertain 8_2048640_C->A 8 2048640 2048640 C A snp 2802.77 1/1 99 81 0 81 1.0 intronic MYOM2 AU NM_003970 exon20 c.49785-25C>A 0.658746 0.6736 0.624942 0.6202 0.6573 Uncertain 8_2048811_A->C 8 2048811 2048811 A C snp 6474.77 1/1 99 237 0 237 1.0 exonic MYOM2 AU synonymous SNV NM_003970 exon20 c.A2586C p.V862V 0.954273 1 0.955867 0.9874 1 Uncertain 8_2048831_A->G 8 2048831 2048831 A G snp 2713.77 0/1 99 215 104 111 0.52 exonic MYOM2 AU nonsynonymous SNV NM_003970 exon20 c.A2606G p.N869S 0.460463 0.4048 0.436798 0.3753 0.3988 0.22 T 0.000 P -0.951 T 0.013 T 0.02 T Pathogenic 8_2050596_A->G 8 2050596 2050596 A G snp 943.77 0/1 99 74 35 39 0.53 intronic MYOM2 AU NM_003970 exon21 c.51691+25A>G 0.25599 0.2847 0.233277 0.2159 0.2960 Uncertain 8_2053942_T->C 8 2053942 2053942 T C snp 40.77 0/1 69 5 3 2 0.4 intronic MYOM2 AU NM_003970 exon22 c.55151-89T>C 0.781949 0.7212 Uncertain 8_2054012_C->T 8 2054012 2054012 C T snp 514.77 0/1 99 42 19 23 0.55 intronic MYOM2 AU NM_003970 exon22 c.55151-19C>T 0.441893 0.3889 0.549823 0.5760 0.4057 Uncertain 8_2054066_A->G 8 2054066 2054066 A G snp 866.77 0/1 99 78 45 33 0.42 exonic MYOM2 AU synonymous SNV NM_003970 exon22 c.A2769G p.Q923Q 0.173922 0.2857 0.137091 0.1685 0.2723 Uncertain 8_2054171_C->T 8 2054171 2054171 C T snp 2107.77 0/1 99 178 85 93 0.52 exonic MYOM2 AU synonymous SNV NM_003970 exon22 c.C2874T p.I958I 0.254992 0.2282 0.320083 0.3381 0.2425 Uncertain 8_2054195_C->G 8 2054195 2054195 C G snp 5305.77 1/1 99 207 0 207 1.0 intronic MYOM2 AU NM_003970 exon22 c.55308+7C>G 0.457069 0.5129 0.487544 0.5187 0.5154 Uncertain 8_2054477_A->- 8 2054477 2054477 A - indel 105.73 0/1 99 11 6 5 0.45 intronic rs33927116 MYOM2 AU NM_003970 exon23 c.55507+90delA 0.405751 0.3869 Uncertain 8_2057298_C->T 8 2057298 2057298 C T snp 726.77 0/1 99 78 48 30 0.38 exonic MYOM2 AU synonymous SNV NM_003970 exon25 c.C3156T p.N1052N 0.142772 0.2827 0.105105 0.1439 0.2653 Uncertain 8_2063921_AT->- 8 2063921 2063922 AT - indel 2588.73 0/1 99 116 58 58 0.5 intronic rs34379172 MYOM2 AU NM_003970 exon26 c.65016+25_65016+26delAT 0.322883 0.2827 0.390495 0.3982 0.2831 Uncertain 8_2064121_C->T 8 2064121 2064121 C T snp 1713.77 1/1 99 72 0 72 1.0 intronic MYOM2 AU NM_003970 exon27 c.65189+52C>T 0.47484 0.5099 0.500000 0.5429 0.5154 Uncertain 8_2065604_A->G 8 2065604 2065604 A G snp 407.77 0/1 99 30 13 17 0.57 intronic MYOM2 AU NM_003970 exon28 c.66793-69A>G 0.0201677 0.0962 Uncertain 8_2071002_T->C 8 2071002 2071002 T C snp 124.77 0/1 64 7 2 5 0.71 intronic MYOM2 AU NM_003970 exon29 c.72244-122T>C 0.327077 0.381 Uncertain 8_2071174_T->C 8 2071174 2071174 T C snp 1799.77 0/1 99 160 82 78 0.49 exonic MYOM2 AU nonsynonymous SNV NM_003970 exon29 c.T3503C p.V1168A 0.096845 0.1865 0.089728 0.1115 0.1993 0.79 T 0.0 P -0.934 T 0.002 T 0.009 T Pathogenic 8_2071261_-->GAC 8 2071261 2071261 - GAC indel 6942.73 1/1 99 120 0 120 1.0 intronic rs10656435 MYOM2 AU NM_003970 exon29 c.72358+23insGAC 0.734824 0.8016 0.7320 0.7983 Uncertain 8_2071306_A->G 8 2071306 2071306 A G snp 3197.05 1/1 99 100 0 100 1.0 intronic MYOM2 AU NM_003970 exon29 c.72358+68A>G 0.736821 0.7986 Uncertain 8_2071309_A->T 8 2071309 2071309 A T snp 3120.77 1/1 99 99 0 99 1.0 intronic MYOM2 AU NM_003970 exon29 c.72358+71A>T 0.736821 0.7986 Uncertain 8_2071673_T->C 8 2071673 2071673 T C snp 836.77 1/1 63 27 0 27 1.0 intronic MYOM2 AU NM_003970 exon30 c.72635+158T>C 0.73762 0.8016 Uncertain 8_2077072_A->G 8 2077072 2077072 A G snp 1049.77 0/1 99 96 51 45 0.47 intronic MYOM2 AU NM_003970 exon32 c.78234-42A>G 0.660942 0.6895 0.587883 0.5902 0.6931 Uncertain 8_2091184_T->C 8 2091184 2091184 T C snp 734.77 0/1 99 67 35 32 0.48 intronic MYOM2 AU NM_003970 exon36 c.92444-140T>C 0.235423 0.3552 Uncertain 8_2091227_A->C 8 2091227 2091227 A C snp 1639.77 0/1 99 131 60 71 0.54 intronic MYOM2 AU NM_003970 exon36 c.92444-97A>C 0.121605 0.2044 Uncertain 8_2091248_A->G 8 2091248 2091248 A G snp 1893.77 0/1 99 158 77 81 0.51 intronic MYOM2 AU NM_003970 exon36 c.92444-76A>G 0.115615 0.1885 Uncertain 8_2091522_C->T 8 2091522 2091522 C T snp 77.77 0/1 30 4 1 3 0.75 intronic MYOM2 AU NM_003970 exon36 c.92500+142C>T 0.110423 0.1687 Uncertain 8_2092484_C->T 8 2092484 2092484 C T snp 593.77 0/1 99 48 27 21 0.44 intronic MYOM2 AU NM_003970 exon37 c.93707-103C>T 0.150958 0.1696 Uncertain 8_2092803_A->G 8 2092803 2092803 A G snp 1812.77 0/1 99 190 110 80 0.42 exonic MYOM2 AU synonymous SNV NM_003970 exon37 c.A4296G p.T1432T 0.240815 0.2292 0.262264 0.2471 0.2483 Uncertain 8_2112041_A->G 8 2112041 2112041 A G snp 919.77 0/1 99 81 47 34 0.42 intergenic MYOM2 AU 0.255391 0.4127 Uncertain 8_2112080_-->TT 8 2112080 2112080 - TT indel 3361.73 1/1 99 117 0 117 1.0 intergenic MYOM2 AU 0.789137 0.8125 Uncertain 8_2112130_G->A 8 2112130 2112130 G A snp 1697.77 0/1 99 151 65 86 0.57 intergenic MYOM2 AU 0.333866 0.3998 0.344262 0.4338 0.4191 Uncertain 8_2148429_T->A 8 2148429 2148429 T A snp 707.77 1/1 51 26 0 26 1.0 intergenic MYOM2 AU 0.536741 0.3919 Uncertain 8_2148431_C->T 8 2148431 2148431 C T snp 728.77 1/1 54 27 0 27 1.0 intergenic MYOM2 AU 0.536741 0.3919 Uncertain 8_2148550_G->A 8 2148550 2148550 G A snp 1711.77 1/1 99 65 0 65 1.0 intergenic MYOM2 AU 0.948482 0.9425 0.9904 0.9495 Uncertain 8_2148588_ATGTGTGTACATATGTAC->- 8 2148588 2148605 ATGTGTGTACATATGTAC - indel 6786.73 1/1 99 44 0 44 1.0 intergenic MYOM2 AU 0.445088 0.3512 0.3728 0.3535 Uncertain 8_2148771_C->T 8 2148771 2148771 C T snp 737.77 0/1 99 64 30 34 0.53 intergenic MYOM2 AU 0.724042 0.872 0.7658 0.8762 Uncertain 8_2796277_C->T 8 2796277 2796277 C T snp 2028.77 0/1 99 212 127 85 0.4 intronic rs585000 CSMD1 AU NM_033225 exon1 c.160+11C>T 0.814696 0.9236 0.788376 0.8249 0.8990 Uncertain 8_2796347_C->A 8 2796347 2796347 C A snp 1764.77 0/1 99 110 40 70 0.64 intronic CSMD1 AU NM_033225 exon1 c.160+81C>A Uncertain 8_2799981_G->C 8 2799981 2799981 G C snp 1541.77 0/1 99 129 57 72 0.56 intronic rs6997981 CSMD1 AU NM_033225 exon2 c.3887-12G>C 0.253594 0.2887 0.295764 0.2961 0.2627 Uncertain 8_2806920_-->AAAGA 8 2806920 2806920 - AAAGA indel 1326.73 0/1 99 55 19 36 0.65 intronic rs5741961 CSMD1 AU NM_033225 exon3 c.10802+12insAAAGA 0.2340 0.1658 Uncertain 8_2807783_G->A 8 2807783 2807783 G A snp 2529.77 0/1 99 175 68 107 0.61 exonic rs35043129 CSMD1 AU synonymous SNV NM_033225 exon67 c.C10284T p.F3428F 0.154952 0.1319 0.148831 0.1394 0.1398 1.000 P Uncertain 8_2811708_T->C 8 2811708 2811708 T C snp 1354.77 1/1 96 54 0 54 1.0 intronic rs1979509 CSMD1 AU NM_033225 exon6 c.15639-37T>C 0.30631 0.5486 0.198392 0.2821 0.4791 Uncertain 8_2813376_T->C 8 2813376 2813376 T C snp 56.74 1/1 6 2 0 2 1.0 intronic rs654126 CSMD1 AU NM_033225 exon7 c.17184+86T>C 0.234625 0.2986 Uncertain 8_2820187_C->A 8 2820187 2820187 C A snp 562.77 0/1 99 52 26 26 0.5 intronic rs4875859 CSMD1 AU NM_033225 exon10 c.24055+26C>A 0.235024 0.2619 0.199440 0.1843 0.2475 Uncertain 8_2820682_C->A 8 2820682 2820682 C A snp 687.77 0/1 99 64 37 27 0.42 intronic rs922995 CSMD1 AU NM_033225 exon11 c.24637-61C>A 0.236621 0.2599 Uncertain 8_2820745_G->C 8 2820745 2820745 G C snp 3932.77 1/1 99 144 0 144 1.0 exonic rs667859 CSMD1 AU synonymous SNV NM_033225 exon60 c.C9453G p.L3151L 0.434704 0.5456 0.367710 0.3646 0.5743 1.0 P -0.918 T Likely benign 8_2824083_C->G 8 2824083 2824083 C G snp 1351.77 0/1 99 103 47 56 0.54 intronic rs73657532 CSMD1 AU NM_033225 exon13 c.27985-8C>G 0.207468 0.2599 0.167310 0.1503 0.2445 Uncertain 8_2832139_C->G 8 2832139 2832139 C G snp 4088.77 1/1 99 146 0 146 1.0 exonic rs667595 CSMD1 AU synonymous SNV NM_033225 exon56 c.G8574C p.S2858S 0.750998 0.8046 0.799719 0.7934 0.8312 1.000 P -1.042 T Likely benign 8_2836102_C->G 8 2836102 2836102 C G snp 1987.77 1/1 99 62 0 62 1.0 intronic rs615578 CSMD1 AU NM_033225 exon16 c.40027-31C>G 0.765176 0.8056 0.811569 0.8118 0.8262 Uncertain 8_2909992_G->A 8 2909992 2909992 G A snp 1914.77 1/1 99 60 0 60 1.0 exonic rs6558702 CSMD1 AU nonsynonymous SNV NM_033225 exon50 c.C7652T p.T2551M 0.692891 0.7907 0.731058 0.7664 0.8239 0.23 T 0.0 P -0.979 T 0.702 T 0.206 P Pathogenic 8_2910020_A->G 8 2910020 2910020 A G snp 2740.77 1/1 99 95 0 95 1.0 exonic rs6558703 CSMD1 AU synonymous SNV NM_033225 exon50 c.T7624C p.L2542L 0.982628 1 0.983536 0.9940 0.9998 0.0 P -1.020 T Likely benign 8_2910223_C->T 8 2910223 2910223 C T snp 1696.77 1/1 99 57 0 57 1.0 intronic rs6420209 CSMD1 AU NM_033225 exon21 c.114063+54C>T 0.982628 1 Uncertain 8_2910289_A->G 8 2910289 2910289 A G snp 368.77 1/1 30 10 0 10 1.0 intronic rs7004774 CSMD1 AU NM_033225 exon21 c.114063+120A>G 0.694688 0.7956 Uncertain 8_2954348_C->A 8 2954348 2954348 C A snp 225.77 0/1 99 15 7 8 0.53 intronic rs3112 CSMD1 AU NM_033225 exon24 c.158264-22C>A 0.652955 0.6042 0.643638 0.6598 0.6026 Uncertain 8_2964003_T->C 8 2964003 2964003 T C snp 1639.77 1/1 99 62 0 62 1.0 intronic rs10503192 CSMD1 AU NM_033225 exon25 c.167943-46T>C 0.804313 0.9464 0.749410 0.8234 0.9640 Uncertain 8_2965107_G->C 8 2965107 2965107 G C snp 43.77 0/1 72 4 2 2 0.5 intronic rs59028493 CSMD1 AU NM_033225 exon26 c.169133-132G>C 0.108626 0.1478 Uncertain 8_2965122_-->TGTTTT 8 2965122 2965122 - TGTTTT indel 377.87 1/1 15 5 0 5 1.0 intronic rs113534820 CSMD1 AU NM_033225 exon26 c.169133-117insTGTTTT 0.991414 0.998 Uncertain 8_2965209_A->G 8 2965209 2965209 A G snp 1427.77 1/1 99 55 0 55 1.0 intronic rs1531351 CSMD1 AU NM_033225 exon26 c.169133-30A>G 0.953474 0.9464 0.951271 0.9662 0.9621 Uncertain 8_2965244_T->C 8 2965244 2965244 T C snp 1967.77 1/1 99 72 0 72 1.0 exonic rs3824271 CSMD1 AU synonymous SNV NM_033225 exon45 c.A6831G p.E2277E 0.839657 0.9464 0.788235 0.8314 0.9620 1.000 P -1.010 T Likely benign 8_2966072_G->T 8 2966072 2966072 G T snp 422.77 1/1 33 16 0 16 1.0 intronic rs3802291 CSMD1 AU NM_033225 exon27 c.170018-52G>T 0.977436 0.9464 Uncertain 8_2966328_T->C 8 2966328 2966328 T C snp 324.77 0/1 99 35 22 13 0.37 intronic rs3802292 CSMD1 AU NM_033225 exon27 c.170164+58T>C 0.528754 0.5556 Uncertain 8_2967609_G->A 8 2967609 2967609 G A snp 180.9 1/1 15 6 0 6 1.0 intronic rs898510 CSMD1 AU NM_033225 exon28 c.171573-70G>A 0.240615 0.1379 Uncertain 8_2967631_G->C 8 2967631 2967631 G C snp 244.77 0/1 92 13 3 10 0.77 intronic rs898511 CSMD1 AU NM_033225 exon28 c.171573-48G>C 0.161342 0.1399 0.171603 0.1625 0.1425 Uncertain 8_2967639_G->T 8 2967639 2967639 G T snp 482.77 1/1 36 16 0 16 1.0 intronic rs898512 CSMD1 AU NM_033225 exon28 c.171573-40G>T 0.809505 0.9464 0.761149 0.8386 0.9636 Uncertain 8_2967905_A->G 8 2967905 2967905 A G snp 730.77 0/1 99 66 36 30 0.45 intronic rs73183532 CSMD1 AU NM_033225 exon28 c.171751+48A>G 0.20647 0.1369 0.2737 0.1661 Uncertain 8_2967906_G->A 8 2967906 2967906 G A snp 730.77 0/1 99 66 37 29 0.44 intronic rs73183533 CSMD1 AU NM_033225 exon28 c.171751+49G>A 0.206669 0.1369 0.2686 0.1621 Uncertain 8_3000240_G->A 8 3000240 3000240 G A snp 253.77 0/1 99 16 8 8 0.5 intronic rs61664876 CSMD1 AU NM_033225 exon30 c.204090+44G>A 0.273962 0.3681 0.233529 0.2550 0.3538 Uncertain 8_3038525_T->A 8 3038525 3038525 T A snp 179.77 0/1 99 11 5 6 0.55 intronic rs259859 CSMD1 AU NM_033225 exon34 c.242525-106T>A 0.536542 0.5506 Uncertain 8_3038763_G->C 8 3038763 3038763 G C snp 1577.77 0/1 99 114 51 63 0.55 intronic rs11785446 CSMD1 AU NM_033225 exon34 c.242630+27G>C 0.149561 0.1597 0.163601 0.1750 0.1691 Uncertain 8_3038838_G->C 8 3038838 3038838 G C snp 318.77 0/1 99 25 14 11 0.44 intronic rs11785463 CSMD1 AU NM_033225 exon34 c.242630+102G>C 0.141573 0.1597 Uncertain 8_3045230_G->A 8 3045230 3045230 G A snp 303.77 0/1 99 18 7 11 0.61 intronic rs17319192 CSMD1 AU NM_033225 exon35 c.249284-160G>A 0.202476 0.1905 Uncertain 8_3046635_G->T 8 3046635 3046635 G T snp 893.77 0/1 99 75 38 37 0.49 intronic rs898501 CSMD1 AU NM_033225 exon36 c.250427+102G>T 0.211661 0.2004 Uncertain 8_3047380_T->G 8 3047380 3047380 T G snp 152.77 0/1 99 10 4 6 0.6 intronic rs894338 CSMD1 AU NM_033225 exon37 c.251327-53T>G 0.508387 0.5169 Uncertain 8_3059366_A->- 8 3059366 3059366 A - indel 209.77 1/1 21 11 0 11 1.0 intronic rs398006943 CSMD1 AU NM_033225 exon39 c.263141+119delA 0.84385 0.7262 Uncertain 8_3062871_A->G 8 3062871 3062871 A G snp 50.74 1/1 6 2 0 2 1.0 intronic rs1867043 CSMD1 AU NM_033225 exon40 c.266919-154A>G 0.895367 0.8631 Uncertain 8_3087809_T->C 8 3087809 3087809 T C snp 143.03 1/1 12 5 0 5 1.0 intronic rs1442403 CSMD1 AU NM_033225 exon44 c.291647+56T>C 0.755591 0.5972 Uncertain 8_3141555_A->G 8 3141555 3141555 A G snp 178.77 0/1 99 18 10 8 0.44 intronic rs10099968 CSMD1 AU NM_033225 exon45 c.345559-110A>G 0.674521 0.6776 Uncertain 8_3141586_T->A 8 3141586 3141586 T A snp 353.77 0/1 99 31 16 15 0.48 intronic rs4875508 CSMD1 AU NM_033225 exon45 c.345559-79T>A 0.753794 0.7083 Uncertain 8_3165207_A->G 8 3165207 3165207 A G snp 1155.77 0/1 99 110 61 49 0.45 intronic rs10103770 CSMD1 AU NM_033225 exon46 c.369110-9A>G 0.380391 0.2192 0.424514 0.4370 0.2075 Uncertain 8_3165814_A->C 8 3165814 3165814 A C snp 188.77 0/1 99 16 9 7 0.44 intronic rs1393843 CSMD1 AU NM_033225 exon47 c.369727-19A>C 0.811102 0.6161 0.921555 0.8907 0.6006 Uncertain 8_3200977_T->A 8 3200977 3200977 T A snp 2887.77 1/1 99 100 0 100 1.0 splicing rs7813641 CSMD1 AU NM_033225 exon48 c.404866+5T>A 0.163538 0.3413 0.060290 0.1035 0.3273 Pathogenic 8_3201012_C->T 8 3201012 3201012 C T snp 1638.77 1/1 99 55 0 55 1.0 intronic rs156075 CSMD1 AU NM_033225 exon48 c.404866+40C>T 0.86222 0.997 0.860504 0.9111 0.9967 Uncertain 8_3201034_G->T 8 3201034 3201034 G T snp 1180.77 1/1 84 42 0 42 1.0 intronic rs156076 CSMD1 AU NM_033225 exon48 c.404866+62G>T 0.853834 0.999 Uncertain 8_3224433_G->A 8 3224433 3224433 G A snp 96.28 1/1 9 3 0 3 1.0 intronic rs12542197 CSMD1 AU NM_033225 exon51 c.428447-120G>A 0.0445288 0.0625 Uncertain 8_3224451_G->T 8 3224451 3224451 G T snp 343.78 1/1 27 9 0 9 1.0 intronic rs10092967 CSMD1 AU NM_033225 exon51 c.428447-102G>T 0.285144 0.3284 Uncertain 8_3224471_C->A 8 3224471 3224471 C A snp 682.77 1/1 51 21 0 21 1.0 intronic rs12547303 CSMD1 AU NM_033225 exon51 c.428447-82C>A 0.0323482 0.0625 Uncertain 8_3224476_A->C 8 3224476 3224476 A C snp 709.77 1/1 54 22 0 22 1.0 intronic rs4875702 CSMD1 AU NM_033225 exon51 c.428447-77A>C 0.285343 0.3284 Uncertain 8_3224561_T->C 8 3224561 3224561 T C snp 2503.77 1/1 99 92 0 92 1.0 exonic rs4875703 CSMD1 AU synonymous SNV NM_033225 exon20 c.A3108G p.T1036T 0.285144 0.3284 0.252892 0.2712 0.3291 1.000 P -0.978 T Likely benign 8_3224779_G->A 8 3224779 3224779 G A snp 1228.77 1/1 87 44 0 44 1.0 intronic rs12542780 CSMD1 AU NM_033225 exon51 c.428663+10G>A 0.0321486 0.0625 0.011812 0.0284 0.0901 Uncertain 8_3226919_C->T 8 3226919 3226919 C T snp 2899.77 1/1 99 118 0 118 1.0 intronic rs270096 CSMD1 AU NM_033225 exon52 c.430786+27C>T 0.989617 1 0.991407 0.9974 0.9998 Uncertain 8_3253942_A->G 8 3253942 3253942 A G snp 549.77 1/1 42 20 0 20 1.0 intronic rs3802305 CSMD1 AU NM_033225 exon54 c.457797+39A>G 0.474641 0.251 0.485287 0.5354 0.3097 Uncertain 8_3253997_G->A 8 3253997 3253997 G A snp 176.9 1/1 15 6 0 6 1.0 intronic rs3802306 CSMD1 AU NM_033225 exon54 c.457797+94G>A 0.471446 0.251 Uncertain 8_3263758_A->G 8 3263758 3263758 A G snp 1310.77 1/1 96 48 1 47 0.98 intronic rs12543118 CSMD1 AU NM_033225 exon56 c.467637+15A>G 0.471246 0.244 0.529057 0.5624 0.3446 Uncertain 8_3265590_C->T 8 3265590 3265590 C T snp 7108.77 1/1 99 247 0 247 1.0 exonic rs10088378 CSMD1 AU synonymous SNV NM_033225 exon14 c.G1902A p.Q634Q 0.603035 0.3383 0.670455 0.6319 0.3647 1.0 P -0.967 T Likely benign 8_3350981_A->T 8 3350981 3350981 A T snp 176.9 1/1 15 5 0 5 1.0 intronic rs7830175 CSMD1 AU NM_033225 exon60 c.555038-163A>T 0.846845 0.88 Uncertain 8_3351259_G->A 8 3351259 3351259 G A snp 2824.77 1/1 99 99 0 99 1.0 intronic rs61703709 CSMD1 AU NM_033225 exon60 c.555142+11G>A 0.167931 0.2837 0.098605 0.1452 0.3407 Uncertain 8_3351264_G->A 8 3351264 3351264 G A snp 2770.77 1/1 99 99 1 98 0.99 intronic rs9314495 CSMD1 AU NM_033225 exon60 c.555142+16G>A 0.711262 0.7192 0.727957 0.7341 0.7381 Uncertain 8_3443799_G->A 8 3443799 3443799 G A snp 90.77 0/1 99 47 37 10 0.21 intronic rs199950710 CSMD1 AU NM_033225 exon62 c.647676+17G>A 0.0115 0.0097 Uncertain 8_3443799_-->A 8 3443799 3443799 - A indel 415.73 0/1 99 47 13 34 0.72 intronic rs111428344 CSMD1 AU NM_033225 exon62 c.647676+17insA 0.309904 0.124 0.2967 0.1442 Uncertain 8_3443841_A->- 8 3443841 3443841 A - indel 161.73 0/1 99 25 11 14 0.56 intronic rs34200940 CSMD1 AU NM_033225 exon62 c.647676+59delA 0.251997 0.1865 Uncertain 8_3474090_G->T 8 3474090 3474090 G T snp 229.77 0/1 99 11 4 7 0.64 intronic rs2469319 CSMD1 AU NM_033225 exon63 c.678125-141G>T 0.684904 0.5694 Uncertain 8_3474342_C->T 8 3474342 3474342 C T snp 2447.77 0/1 99 232 130 102 0.44 intronic rs2291221 CSMD1 AU NM_033225 exon63 c.678213+23C>T 0.488219 0.3343 0.559301 0.5319 0.3627 Uncertain 8_3566106_T->C 8 3566106 3566106 T C snp 3191.82 1/1 99 98 0 98 1.0 intronic rs10105577 CSMD1 AU NM_033225 exon64 c.769907+93T>C 0.886382 0.9901 Uncertain 8_3566161_T->G 8 3566161 3566161 T G snp 643.77 1/1 48 17 0 17 1.0 intronic rs10105599 CSMD1 AU NM_033225 exon64 c.769907+148T>G Uncertain 8_3611697_T->C 8 3611697 3611697 T C snp 113.77 0/1 99 9 5 4 0.44 intronic rs2720860 CSMD1 AU NM_033225 exon65 c.815458+133T>C 0.324081 0.4692 Uncertain 8_3807319_C->G 8 3807319 3807319 C G snp 599.77 1/1 45 16 0 16 1.0 intronic rs2740867 CSMD1 AU NM_033225 exon66 c.1059318-48105C>G 0.947684 0.9504 Uncertain 8_3807528_C->T 8 3807528 3807528 C T snp 3491.77 1/1 99 129 0 129 1.0 intronic rs6984912 CSMD1 AU NM_033225 exon66 c.1059318-47896C>T 0.303514 0.377 0.2385 0.4167 Uncertain 8_3807553_G->A 8 3807553 3807553 G A snp 3605.77 1/1 99 127 0 127 1.0 intronic rs11786061 CSMD1 AU NM_033225 exon66 c.1059318-47871G>A 0.180711 0.3482 Uncertain 8_3807730_G->C 8 3807730 3807730 G C snp 543.77 1/1 42 14 0 14 1.0 intronic rs6984122 CSMD1 AU NM_033225 exon66 c.1059318-47694G>C 0.245807 0.3929 Uncertain 8_3807747_G->T 8 3807747 3807747 G T snp 135.03 1/1 12 4 0 4 1.0 intronic rs10780168 CSMD1 AU NM_033225 exon66 c.1059318-47677G>T 0.233427 0.378 Uncertain 8_3855302_G->A 8 3855302 3855302 G A snp 354.78 1/1 27 11 0 11 1.0 intronic rs1863475 CSMD1 AU NM_033225 exon66 c.1059318-122G>A 0.693091 0.7679 Uncertain 8_4494811_T->G 8 4494811 4494811 T G snp 593.77 1/1 45 17 0 17 1.0 intronic rs2617007 CSMD1 AU NM_033225 exon69 c.1698757-52T>G 0.854233 0.8343 Uncertain 8_4495107_G->C 8 4495107 4495107 G C snp 905.77 0/1 99 65 32 33 0.51 intronic rs2617008 CSMD1 AU NM_033225 exon69 c.1698974+27G>C 0.697576 0.7384 0.7141 Uncertain 8_4495209_G->A 8 4495209 4495209 G A snp 50.74 1/1 6 2 0 2 1.0 intronic rs62486733 CSMD1 AU NM_033225 exon69 c.1698974+129G>A 0.231629 0.1994 Uncertain 8_6264130_G->C 8 6264130 6264130 G C snp 2070.77 0/1 99 151 65 86 0.57 UTR5 rs2305023 MCPH1 AR 0.538738 0.4623 0.672656 Uncertain 8_6264359_CTCCCCCGCTGCCTGTCCCACCAAAACCCCCTGCTCCTGCTCT->- 8 6264359 6264401 CTCCCCCGCTGCCTGTCCCACCAAAACCCCCTGCTCCTGCTCT - indel 2526.73 1/1 48 26 0 26 1.0 intronic rs755701501 MCPH1 AR NM_001172575 exon1 c.22+149_22+191delCTCCCCCGCTGCCTGTCCCACCAAAACCCCCTGCTCCTGCTCT Uncertain 8_6266693_C->T 8 6266693 6266693 C T snp 334.77 0/1 99 33 18 15 0.45 intronic rs1550698 MCPH1 AR NM_001172575 exon2 c.2611-106C>T 0.372204 0.3234 Uncertain 8_6266774_G->A 8 6266774 6266774 G A snp 591.77 0/1 99 72 48 24 0.33 intronic rs1550697 MCPH1 AR NM_001172575 exon2 c.2611-25G>A 0.372005 0.3234 0.326897 0.2554 0.2976 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000146310.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 8_6266957_A->G 8 6266957 6266957 A G snp 386.77 0/1 99 21 6 15 0.71 intronic rs1550696 MCPH1 AR NM_001172575 exon2 c.2703+66A>G 0.201278 0.2619 Uncertain 8_6272156_G->A 8 6272156 6272156 G A snp 86.77 0/1 30 4 1 3 0.75 intronic rs2442546 MCPH1 AR NM_001172575 exon3 c.8097-129G>A 0.617212 0.7312 Uncertain 8_6272185_G->T 8 6272185 6272185 G T snp 431.77 1/1 33 13 0 13 1.0 intronic rs2440437 MCPH1 AR NM_001172575 exon3 c.8097-100G>T 0.969848 1 Uncertain 8_6272399_G->T 8 6272399 6272399 G T snp 1163.77 0/1 99 94 45 49 0.52 exonic rs2305022 MCPH1 AR synonymous SNV NM_024596 exon3 c.G228T p.V76V 0.678115 0.7808 0.697971 0.7719 0.7917 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000146307.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 8_6272457_T->G 8 6272457 6272457 T G snp 622.77 0/1 99 53 28 25 0.47 intronic rs2305021 MCPH1 AR NM_001172575 exon3 c.8216+53T>G 0.280351 0.2192 Uncertain 8_6272477_A->G 8 6272477 6272477 A G snp 1283.77 1/1 93 41 0 41 1.0 intronic rs2515415 MCPH1 AR NM_001172575 exon3 c.8216+73A>G 0.970248 1 Uncertain 8_6272481_C->G 8 6272481 6272481 C G snp 1155.77 1/1 84 38 0 38 1.0 intronic rs2442545 MCPH1 AR NM_001172575 exon3 c.8216+77C>G 0.970248 1 Uncertain 8_6272532_T->A 8 6272532 6272532 T A snp 429.77 1/1 33 12 0 12 1.0 intronic rs2515417 MCPH1 AR NM_001172575 exon3 c.8216+128T>A 0.970248 1 Uncertain 8_6272541_G->- 8 6272541 6272541 G - indel 199.73 0/1 99 11 5 6 0.55 intronic rs3214738 MCPH1 AR NM_001172575 exon3 c.8216+137delG 0.620208 0.7401 Uncertain 8_6272543_A->C 8 6272543 6272543 A C snp 370.77 1/1 30 11 0 11 1.0 intronic rs55687318 MCPH1 AR NM_001172575 exon3 c.8216+139A>C 0.970248 1 Uncertain 8_6288879_A->T 8 6288879 6288879 A T snp 411.77 1/1 33 12 0 12 1.0 intronic rs2251956 MCPH1 AR NM_001172575 exon4 c.24831-140A>T 0.716054 0.8135 Uncertain 8_6296550_G->T 8 6296550 6296550 G T snp 1208.77 1/1 87 47 0 47 1.0 exonic rs2442513 MCPH1 AR nonsynonymous SNV NM_024596 exon6 c.G513T p.R171S 0.916933 0.9851 0.925088 0.9662 0.9883 0.79 T 0.0 P -1.032 T 0.0 T 0.0 T CLINSIG=non-pathogenic;CLNDBN=not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000126703.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Pathogenic 8_6299532_A->G 8 6299532 6299532 A G snp 6402.77 1/1 99 239 0 239 1.0 intronic rs2053618 MCPH1 AR NM_001172575 exon6 c.35399-55A>G 0.676917 0.8036 0.702146 Uncertain 8_6302183_G->C 8 6302183 6302183 G C snp 3892.77 1/1 99 141 1 140 0.99 exonic rs930557 MCPH1 AR nonsynonymous SNV NM_024596 exon8 c.G940C p.D314H 0.644768 0.7639 0.675773 0.7714 0.7933 0.06 T 0.0 P -1.055 T 1.0 D 0.992 D CLINSIG=non-pathogenic|probable-non-pathogenic;CLNDBN=Primary_autosomal_recessive_microcephaly_1|not_specified;CLNREVSTAT=no_assertion_criteria_provided|no_assertion_criteria_provided;CLNACC=RCV000020903.1|RCV000146337.1;CLNDSDB=GeneReviews:MedGen:OMIM:OMIM:Orphanet|MedGen;CLNDSDBID=NBK9587:C1855081:251200:606858:ORPHA2512|CN169374 Pathogenic 8_6302418_A->G 8 6302418 6302418 A G snp 4419.77 1/1 99 146 0 146 1.0 exonic rs2515569 MCPH1 AR nonsynonymous SNV NM_024596 exon8 c.A1175G p.D392G 0.994409 1 0.992661 0.9980 0.9999 0.71 T 0.0 P -0.923 T 0.0 T 0.0 T Pathogenic 8_6312880_C->T 8 6312880 6312880 C T snp 427.77 1/1 33 11 0 11 1.0 intronic rs2515575 MCPH1 AR NM_024596 exon9 c.48585+107C>T 0.933706 0.9623 Uncertain 8_6371076_A->G 8 6371076 6371076 A G snp 114.77 0/1 58 6 2 4 0.67 intronic rs2442629 ANGPT2 AU NM_001118888 exon3 c.10577-122A>G 0.38099 0.2163 Uncertain 8_6371096_T->C 8 6371096 6371096 T C snp 113.77 0/1 99 9 5 4 0.44 intronic rs3020217 ANGPT2 AU NM_001118888 exon3 c.10577-102T>C 0.325679 0.2133 Uncertain 8_6371114_A->G 8 6371114 6371114 A G snp 248.77 0/1 99 16 7 9 0.56 intronic rs13278243 ANGPT2 AU NM_001118888 exon3 c.10577-84A>G 0.277756 0.1954 Uncertain 8_6371129_C->T 8 6371129 6371129 C T snp 411.77 0/1 99 24 8 16 0.67 intronic rs13277236 ANGPT2 AU NM_001118888 exon3 c.10577-69C>T 0.275359 0.1954 Uncertain 8_6371291_A->G 8 6371291 6371291 A G snp 2719.77 0/1 99 223 96 127 0.57 exonic rs2916747 ANGPT2 AU synonymous SNV NM_001147 exon7 c.T1107C p.Y369Y 0.175319 0.1637 0.134400 0.0837 0.1472 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000146290.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 8_6371448_T->C 8 6371448 6371448 T C snp 197.77 0/1 99 20 13 7 0.35 intronic rs58784829 ANGPT2 AU NM_001118888 exon3 c.10744+83T>C 0.124601 0.1458 Uncertain 8_6371476_C->T 8 6371476 6371476 C T snp 157.77 0/1 63 8 3 5 0.63 intronic rs1982386 ANGPT2 AU NM_001118888 exon3 c.10744+111C>T 0.358826 0.6865 Uncertain 8_6372033_T->G 8 6372033 6372033 T G snp 43.77 0/1 72 7 4 3 0.43 intronic rs2916736 ANGPT2 AU NM_001118888 exon4 c.11576-164T>G 0.329473 0.2321 Uncertain 8_6372172_T->C 8 6372172 6372172 T C snp 1241.77 0/1 99 124 70 54 0.44 intronic rs2979671 ANGPT2 AU NM_001118888 exon4 c.11576-25T>C 0.325679 0.2123 0.369060 0.3528 0.2119 Uncertain 8_6377330_A->T 8 6377330 6377330 A T snp 2316.77 1/1 99 77 0 77 1.0 intronic rs2442622 ANGPT2 AU NM_001118888 exon5 c.16763-54A>T 0.230431 0.2718 Uncertain 8_6378763_C->T 8 6378763 6378763 C T snp 1130.77 0/1 99 112 60 52 0.46 exonic rs3020221 ANGPT2 AU synonymous SNV NM_001147 exon4 c.G735A p.Q245Q 0.309704 0.2331 0.365293 0.3449 0.2312 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000146293.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 8_6389889_C->A 8 6389889 6389889 C A snp 6306.77 1/1 99 234 0 234 1.0 exonic rs6559167 ANGPT2 AU synonymous SNV NM_001147 exon2 c.G408T p.A136A 0.289736 0.4087 0.427341 0.3004 0.4022 CLINSIG=probable-non-pathogenic,probable-non-pathogenic;CLNDBN=not_specified,not_specified;CLNREVSTAT=no_assertion_criteria_provided,no_assertion_criteria_provided;CLNACC=RCV000146294.1,RCV000146295.1;CLNDSDB=MedGen,MedGen;CLNDSDBID=CN169374,CN169374 Uncertain 8_6390079_G->A 8 6390079 6390079 G A snp 709.77 1/1 54 21 0 21 1.0 intronic rs2515482 ANGPT2 AU NM_001147 exon8 c.29387+71G>A 0.619209 0.5526 Uncertain 8_6420490_C->G 8 6420490 6420490 C G snp 426.77 0/1 99 44 27 17 0.39 UTR5 rs3739390 ANGPT2 AU 0.0720847 0.1101 0.062433 0.0642 0.1171 Uncertain 8_6420534_A->G 8 6420534 6420534 A G snp 216.77 0/1 99 15 7 8 0.53 UTR5 rs3739391 ANGPT2 AU 0.652756 0.8274 Uncertain 8_6478956_A->G 8 6478956 6478956 A G snp 1919.77 1/1 99 69 0 69 1.0 ncRNA_exonic rs2936531 LOC100507530 AU 0.490415 0.6835 0.421811 0.4492 0.6766 Uncertain 8_6478986_C->T 8 6478986 6478986 C T snp 2965.77 1/1 99 107 0 107 1.0 exonic rs2912010 MCPH1 AR synonymous SNV NM_024596 exon13 c.C2226T p.S742S 0.452875 0.6776 0.374587 0.4292 0.6719 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_multiple_submitters\x2c_no_conflicts;CLNACC=RCV000146299.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 8_6479042_C->T 8 6479042 6479042 C T snp 5489.77 1/1 99 202 0 202 1.0 exonic rs1057090 MCPH1 AR nonsynonymous SNV NM_024596 exon13 c.C2282T p.A761V 0.482029 0.6716 0.409828 0.4362 0.6661 1 T 0.0 P -1.003 T CLINSIG=non-pathogenic,non-pathogenic,non-pathogenic|non-pathogenic;CLNDBN=not_specified,not_specified,Primary_autosomal_recessive_microcephaly_1|not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter,criteria_provided\x2c_single_submitter,no_assertion_criteria_provided|criteria_provided\x2c_multiple_submitters\x2c_no_conflicts;CLNACC=RCV000146303.1,RCV000146304.1,RCV000020900.1|RCV000146305.3;CLNDSDB=MedGen,MedGen,GeneReviews:MedGen:OMIM:OMIM:Orphanet|MedGen;CLNDSDBID=CN169374,CN169374,NBK9587:C1855081:251200:606858:ORPHA2512|CN169374 ID=CM081694;DIS=Cranial volume, association with;TAG=DP;PUB=18204051 DP Pathogenic 8_6479178_C->A 8 6479178 6479178 C A snp 5798.77 1/1 99 202 0 202 1.0 exonic rs2912016 MCPH1 AR synonymous SNV NM_024596 exon13 c.C2418A p.A806A 0.39377 0.4375 0.362588 0.3681 0.4309 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_multiple_submitters\x2c_no_conflicts;CLNACC=RCV000146313.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 8_6479282_G->T 8 6479282 6479282 G T snp 1801.77 1/1 99 61 0 61 1.0 ncRNA_intronic rs11137041 LOC100507530 AU 0.345248 0.4365 Uncertain 8_6566351_C->G 8 6566351 6566351 C G snp 5763.77 1/1 99 206 0 206 1.0 exonic rs62497278 AGPAT5 AU synonymous SNV NM_018361 exon1 c.C162G p.L54L 0.124601 0.3095 0.055282 0.1065 0.3170 Uncertain 8_6582485_A->C 8 6582485 6582485 A C snp 1090.77 1/1 78 47 0 47 1.0 intronic rs2980686 AGPAT5 AU NM_018361 exon2 c.16271+25A>C 0.780152 0.7907 0.791488 0.7487 0.7780 Uncertain 8_6605453_T->C 8 6605453 6605453 T C snp 545.77 0/1 99 32 16 16 0.5 intronic rs6651450 AGPAT5 AU NM_018361 exon6 c.39160+104T>C 0.381589 0.498 Uncertain 8_6669949_T->C 8 6669949 6669949 T C snp 522.77 1/1 39 16 0 16 1.0 intronic rs2553728 XKR5 AU NM_207411 exon1 c.1142+89T>C 0.562899 0.6151 Uncertain 8_6673378_A->- 8 6673378 6673378 A - indel 6758.73 1/1 99 150 0 150 1.0 splicing rs11338621 XKR5 AU NM_207411 exon3 c.4660delA 1 1 0.9999 1 Pathogenic 8_6673515_C->T 8 6673515 6673515 C T snp 445.77 0/1 99 30 14 16 0.53 intronic rs71525769 XKR5 AU NM_207411 exon3 c.4722+75C>T 0.194688 0.4752 Uncertain 8_6679316_C->A 8 6679316 6679316 C A snp 649.77 0/1 99 53 31 22 0.42 intronic rs58387909 XKR5 AU NM_207411 exon4 c.10672-74C>A 0.21885 0.3135 Uncertain 8_6681256_A->C 8 6681256 6681256 A C snp 599.77 1/1 45 18 0 18 1.0 splicing rs9772979 XKR5 AU NM_207411 exon5 c.12534+4A>C 0.711262 0.9355 0.541269 0.6305 0.9356 Pathogenic 8_6686791_C->T 8 6686791 6686791 C T snp 868.77 0/1 99 76 38 38 0.5 UTR5 rs2741087 XKR5 AU 0.210064 0.2302 Uncertain 8_6735300_T->A 8 6735300 6735300 T A snp 2803.77 1/1 99 105 0 105 1.0 intronic rs2293958 DEFB1 AU NM_005218 exon2 c.7116-18T>A 0.849441 0.9028 0.823620 0.7961 0.8821 Uncertain 8_6735423_C->G 8 6735423 6735423 C G snp 2106.77 1/1 99 67 0 67 1.0 UTR5 rs1800972 DEFB1 AU 0.860224 0.9028 0.833615 0.7985 0.8811 ID=CR035816;DIS=Low levels of Candida carriage, association with;TAG=DFP;PUB=12517831 DFP Uncertain 8_6735431_C->T 8 6735431 6735431 C T snp 1927.77 1/1 99 60 0 60 1.0 UTR5 rs1799946 DEFB1 AU 0.446286 0.4712 0.428630 0.3703 0.5106 ID=CR068456;DIS=HIV-1 infection, association with;TAG=DFP;PUB=16868452 DFP Uncertain 8_6793540_C->T 8 6793540 6793540 C T snp 1423.77 0/1 99 163 100 63 0.39 UTR3 rs736227 DEFA4 AU 0.667532 0.6151 0.684838 0.6382 0.6151 Uncertain 8_6793581_A->G 8 6793581 6793581 A G snp 1393.77 0/1 99 152 89 63 0.41 exonic rs2738100 DEFA4 AU synonymous SNV NM_001925 exon3 c.T255C p.G85G 0.461462 0.4593 0.429494 0.3981 0.4603 Uncertain 8_7308386_T->C 8 7308386 7308386 T C snp 3167.77 1/1 99 154 0 154 1.0 exonic rs1042797 SPAG11B AU nonsynonymous SNV NM_058207 exon2 c.A92G p.H31R 0.5744 0.5616 0.5 T 0.0 P -0.917 T 0.0 T 0.0 T Pathogenic 8_7308798_A->G 8 7308798 7308798 A G snp 1282.77 1/1 93 43 0 43 1.0 intronic rs4840280 SPAG11B AU NM_058206 exon2 c.321+77A>G 0.879193 0.87 Uncertain 8_7320533_G->A 8 7320533 7320533 G A snp 111.79 0/1 22 7 1 6 0.86 intronic rs2251705 SPAG11B AU NM_058203 exon2 c.1453+152G>A Uncertain 8_7340323_A->G 8 7340323 7340323 A G snp 864.77 0/1 99 132 79 53 0.4 intronic rs78817522 DEFB106A AU NM_152251 exon1 c.149+49A>G 0.304912 0.4861 0.4323 0.5476 Uncertain 8_7343776_C->T 8 7343776 7343776 C T snp 429.77 0/1 99 137 102 35 0.26 intronic rs199887870 DEFB106A AU NM_152251 exon2 c.3730-79C>T Uncertain 8_7343806_C->G 8 7343806 7343806 C G snp 1513.77 0/1 99 185 78 107 0.58 intronic rs148956195 DEFB106A AU NM_152251 exon2 c.3730-49C>G 0.5476 0.5406 Uncertain 8_7398339_G->A 8 7398339 7398339 G A snp 108.77 0/1 42 116 47 69 0.59 intergenic rs2737931 DEFB107A AU Uncertain 8_7398650_T->A 8 7398650 7398650 T A snp 794.77 0/1 99 171 129 42 0.25 intergenic rs62639820 DEFB107A AU Uncertain 8_7398772_T->G 8 7398772 7398772 T G snp 219.77 0/1 59 139 60 79 0.57 intergenic rs2737502 DEFB107A AU 0 . 0.04 T 0.0 P -0.953 T Uncertain 8_7673126_C->A 8 7673126 7673126 C A snp 130.77 0/1 99 250 169 81 0.32 exonic rs200631345 DEFB107B AU nonsynonymous SNV NM_001040705 exon1 c.G25T p.V9F 0.5144 0.5237 1 T 0.0 P -0.928 T Pathogenic 8_7673308_A->G 8 7673308 7673308 A G snp 283.77 0/1 99 35 19 16 0.46 upstream rs2680425 DEFB107B AU Uncertain 8_7686200_T->C 8 7686200 7686200 T C snp 117.9 1/1 15 13 0 13 1.0 intergenic rs751663940 DEFB105A AU Uncertain 8_7686281_A->C 8 7686281 7686281 A C snp 936.77 0/1 99 138 89 49 0.36 intergenic rs200114200 DEFB105A AU 0.002857 0.0077 0.0590 Uncertain 8_7686323_G->A 8 7686323 7686323 G A snp 1025.77 0/1 99 238 168 70 0.29 intergenic rs201085281 DEFB105A AU 0.4276 0.4487 Uncertain 8_7686397_T->C 8 7686397 7686397 T C snp 212.77 0/1 99 250 194 56 0.22 intergenic rs146195936 DEFB105A AU 0.2368 0.1696 Uncertain 8_7694034_A->G 8 7694034 7694034 A G snp 103.77 0/1 99 208 173 35 0.17 exonic rs202183310 DEFB104A AU nonsynonymous SNV NM_001040702 exon1 c.A28G p.I10V 0.4498 0.4838 0.25 T 0.0 P -0.909 T Pathogenic 8_7698442_C->A 8 7698442 7698442 C A snp 76.77 0/1 74 7 3 4 0.57 intronic rs200242873 DEFB104A AU NM_080389 exon2 c.4549-113C>A Uncertain 8_7698527_T->G 8 7698527 7698527 T G snp 530.77 0/1 99 162 88 74 0.46 intronic rs2740023 DEFB104A AU NM_080389 exon2 c.4549-28T>G 0.4836 0.4422 Uncertain 8_7698610_G->A 8 7698610 7698610 G A snp 100.77 0/1 99 250 201 49 0.2 exonic rs140952426 DEFB104A AU nonsynonymous SNV NM_001040702 exon2 c.G113A p.R38Q 0.004632 0.1532 0.1049 0.06 T 1 N -1.000 T Pathogenic 8_7718187_T->G 8 7718187 7718187 T G snp 4045.77 0/1 99 249 73 176 0.71 exonic rs12063 SPAG11A AU nonsynonymous SNV NM_001081552 exon3 c.T234G p.I78M 0.401358 0.4673 0.364093 0.4490 0.4878 0.07 T 0.000 P -0.909 T 0.994 D 0.993 D Pathogenic 8_7718266_A->T 8 7718266 7718266 A T snp 5128.77 1/1 99 219 0 219 1.0 intronic rs3860876 SPAG11A AU NM_001081552 exon3 c.12677+21A>T 0.933906 0.999 0.9763 1 1 T 0.000 P -0.959 T 0.0 T 0.0 T Uncertain 8_7720995_T->C 8 7720995 7720995 T C snp 440.77 0/1 99 250 203 47 0.19 intronic rs199909847 SPAG11A AU NM_001081552 exon4 c.15454-27T>C 0.2825 0.1836 Uncertain 8_7752127_T->C 8 7752127 7752127 T C snp 253.77 0/1 99 85 64 21 0.25 UTR5 rs201371824 DEFB4A AU Uncertain 8_8186054_T->C 8 8186054 8186054 T C snp 223.77 0/1 99 33 21 12 0.36 intronic rs371441316 SGK223 AU NM_001080826 exon2 c.10302+77T>C Uncertain 8_8186055_T->C 8 8186055 8186055 T C snp 232.77 0/1 99 33 20 13 0.39 intronic rs375594319 SGK223 AU NM_001080826 exon2 c.10302+78T>C Uncertain 8_8186057_T->A 8 8186057 8186057 T A snp 206.77 0/1 99 32 21 11 0.34 intronic rs377379391 SGK223 AU NM_001080826 exon2 c.10302+80T>A Uncertain 8_8186058_T->A 8 8186058 8186058 T A snp 248.77 0/1 99 31 19 12 0.39 intronic rs370858921 SGK223 AU NM_001080826 exon2 c.10302+81T>A Uncertain 8_8234077_G->C 8 8234077 8234077 G C snp 2753.77 0/1 99 213 105 108 0.51 exonic rs4840952 SGK223 AU synonymous SNV NM_001080826 exon2 c.C1842G p.A614A 0.425719 0.6409 0.279376 0.3621 0.6363 Uncertain 8_8234113_G->A 8 8234113 8234113 G A snp 2197.77 0/1 99 154 77 77 0.5 exonic rs2921005 SGK223 AU synonymous SNV NM_001080826 exon2 c.C1806T p.V602V 0.0998403 0.0744 0.072043 0.0770 0.0978 Uncertain 8_8234192_G->C 8 8234192 8234192 G C snp 1829.77 0/1 99 166 84 82 0.49 exonic rs4840953 SGK223 AU nonsynonymous SNV NM_001080826 exon2 c.C1727G p.S576C 0.454473 0.6409 0.292545 0.3877 0.6364 0.18 T 0.0 P -0.914 T 0.001 T 0.001 T Pathogenic 8_8234218_C->T 8 8234218 8234218 C T snp 1953.77 0/1 99 176 91 85 0.48 exonic rs4840954 SGK223 AU synonymous SNV NM_001080826 exon2 c.G1701A p.P567P 0.453674 0.6409 0.289418 0.3859 0.6323 Uncertain 8_8234219_G->A 8 8234219 8234219 G A snp 1915.77 0/1 99 178 92 86 0.48 exonic rs4840955 SGK223 AU nonsynonymous SNV NM_001080826 exon2 c.C1700T p.P567L 0.453275 0.6409 0.289094 0.3855 0.6323 0.05 T 0.578 P -0.899 T 0.123 T 0.023 T Pathogenic 8_8234714_C->T 8 8234714 8234714 C T snp 2401.77 0/1 99 181 79 102 0.56 exonic rs3896980 SGK223 AU nonsynonymous SNV NM_001080826 exon2 c.G1205A p.R402Q 0.455871 0.6409 0.321310 0.3924 0.6383 0.21 T 0.0 P -0.923 T 0.716 T 0.042 P Pathogenic 8_8234868_-->GCCGCT 8 8234868 8234868 - GCCGCT indel 11966.7 1/1 99 197 0 197 1.0 exonic rs150979349 SGK223 AU nonframeshift insertion NM_001080826 exon2 c.1050_1051insAGCGGC p.A351delinsSGA 0.595048 0.629 0.5281 0.7166 Uncertain 8_8559832_G->A 8 8559832 8559832 G A snp 50.74 1/1 6 2 0 2 1.0 UTR5 rs9644774 CLDN23 AU 0.216254 0.0288 Uncertain 8_8559898_G->A 8 8559898 8559898 G A snp 210.77 0/1 99 20 12 8 0.4 UTR5 rs11995449 CLDN23 AU 0.294928 0.4901 0.215188 0.3290 0.4497 Uncertain 8_8560602_C->T 8 8560602 8560602 C T snp 1942.77 0/1 99 193 101 92 0.48 exonic rs2280560 CLDN23 AU nonsynonymous SNV NM_194284 exon1 c.C694T p.P232S 0.295527 0.4921 0.193711 0.4091 0.5165 0.57 T 0.020 P -0.950 T 0.244 T 0.037 T Pathogenic 8_8560909_G->C 8 8560909 8560909 G C snp 366.77 0/1 99 29 17 12 0.41 UTR3 rs12153 CLDN23 AU 0.296126 0.4931 Uncertain 8_8643387_G->A 8 8643387 8643387 G A snp 185.9 1/1 15 7 0 7 1.0 UTR3 rs10903311 MFHAS1 AU 0.682907 0.9117 Uncertain 8_8643582_C->G 8 8643582 8643582 C G snp 3868.77 1/1 99 146 0 146 1.0 intronic rs2271340 MFHAS1 AU NM_004225 exon1 c.34+17C>G 0.815895 0.9196 0.766339 0.7978 0.9066 Uncertain 8_8643725_T->A 8 8643725 8643725 T A snp 846.77 1/1 63 23 0 23 1.0 intronic rs2271341 MFHAS1 AU NM_004225 exon1 c.34+160T>A 0.819289 0.9196 Uncertain 8_8654898_C->T 8 8654898 8654898 C T snp 2002.77 0/1 99 175 92 83 0.47 exonic rs3827812 MFHAS1 AU synonymous SNV NM_004225 exon2 c.G3102A p.P1034P 0.0938498 0.0466 0.146702 0.1526 0.0587 Uncertain 8_8655023_C->T 8 8655023 8655023 C T snp 3518.77 1/1 99 126 0 126 1.0 intronic rs3748144 MFHAS1 AU NM_004225 exon2 c.11470+22C>T 0.826478 0.9187 0.774719 0.8013 0.9044 Uncertain 8_8747537_T->C 8 8747537 8747537 T C snp 977.77 0/1 99 98 55 43 0.44 intronic rs399123 MFHAS1 AU NM_004225 exon3 c.104039-33T>C 0.507588 0.875 0.405890 0.5421 0.8502 Uncertain 8_8747894_A->G 8 8747894 8747894 A G snp 3818.77 1/1 99 135 0 135 1.0 exonic rs429433 MFHAS1 AU nonsynonymous SNV NM_004225 exon1 c.T2675C p.L892P 0.969449 1 0.952483 0.9669 1 0.49 T 0.997 P -0.960 T 0.0 T 0.0 T Pathogenic 8_8860620_T->C 8 8860620 8860620 T C snp 331.77 0/1 99 31 17 14 0.45 exonic rs2288672 ERI1 AU nonsynonymous SNV NM_153332 exon1 c.T47C p.L16P 0.84365 0.7639 0.897646 0.8629 0.7222 1 T 0.0 P -0.981 T 0.0 T 0.0 T Pathogenic 8_8875593_T->G 8 8875593 8875593 T G snp 80.77 0/1 99 6 3 3 0.5 intronic rs2953808 ERI1 AU NM_153332 exon5 c.15233-213T>G 0.851438 0.7649 Uncertain 8_8887543_AAC->- 8 8887543 8887545 AAC - indel 2502.73 0/1 99 114 59 55 0.48 exonic rs140242735 ERI1 AU frameshift deletion NM_153332 exon7 c.1049_1310del p.*350fs 0.438698 0.6944 0.352636 0.4793 0.6754 ID=COSM1458537;OCCURENCE=4(large_intestine),1(upper_aerodigestive_tract) Pathogenic 8_8905786_-->T 8 8905786 8905786 - T indel 250.73 0/1 99 16 5 11 0.69 upstream rs11433078 MIR4660 AU 0.444089 0.7133 Uncertain 8_8905926_A->G 8 8905926 8905926 A G snp 2124.77 0/1 99 140 50 90 0.64 upstream rs2921379 MIR4660 AU 0.846845 0.7421 0.9286 0.75 Uncertain 8_8998262_C->T 8 8998262 8998262 C T snp 286.77 0/1 99 27 16 11 0.41 UTR3 rs434238 PPP1R3B AU 0.408147 0.754 0.003789 0.3667 0.7316 Uncertain 8_8998263_T->G 8 8998263 8998263 T G snp 282.77 0/1 99 27 16 11 0.41 UTR3 rs408773 PPP1R3B AU 0.408347 0.755 0.007887 0.3672 0.7328 Uncertain 8_8999187_G->C 8 8999187 8999187 G C snp 881.77 0/1 99 95 52 43 0.45 intronic rs330924 PPP1R3B AU NM_001201329 exon1 c.875+9G>C 0.510783 0.8145 0.344242 0.4310 0.7964 Uncertain 8_9437546_C->T 8 9437546 9437546 C T snp 77.77 0/1 69 5 2 3 0.6 intronic rs62493904 TNKS AU NM_003747 exon2 c.24219-122C>T 0.144768 0.2222 Uncertain 8_9537635_G->A 8 9537635 9537635 G A snp 116.77 0/1 99 9 4 5 0.56 intronic rs12114182 TNKS AU NM_003747 exon4 c.124048+138G>A 0.57488 0.4524 Uncertain 8_9563798_T->- 8 9563798 9563798 T - indel 979.73 1/1 99 57 2 55 0.96 intronic rs11343041 TNKS AU NM_003747 exon7 c.150314+35delT 0.736022 0.6875 0.6381 0.6210 Uncertain 8_9564437_A->G 8 9564437 9564437 A G snp 962.77 0/1 99 85 43 42 0.49 exonic rs7006985 TNKS AU synonymous SNV NM_003747 exon8 c.A1386G p.T462T 0.546725 0.3829 0.603875 0.5810 0.4029 Uncertain 8_9564600_T->C 8 9564600 9564600 T C snp 42.77 0/1 31 3 1 2 0.67 intronic rs12542457 TNKS AU NM_003747 exon8 c.151058+93T>C 0.548522 0.3839 Uncertain 8_9577794_-->T 8 9577794 9577794 - T indel 711.73 1/1 78 26 0 26 1.0 intronic rs398112181 TNKS AU NM_003747 exon12 c.164434-89insT 0.703275 0.6726 Uncertain 8_9577804_C->A 8 9577804 9577804 C A snp 968.77 1/1 72 34 0 34 1.0 intronic rs5025210 TNKS AU NM_003747 exon12 c.164434-79C>A 0.708067 0.6806 Uncertain 8_9577940_T->C 8 9577940 9577940 T C snp 3392.77 1/1 99 125 1 124 0.99 exonic rs6601360 TNKS AU synonymous SNV NM_003747 exon12 c.T1806C p.G602G 0.975439 1 0.977779 0.9927 1 Uncertain 8_9593081_A->C 8 9593081 9593081 A C snp 1816.77 1/1 99 54 0 54 1.0 intronic rs4841208 TNKS AU NM_003747 exon17 c.179547+85A>C 0.848642 0.8056 Uncertain 8_9593121_T->A 8 9593121 9593121 T A snp 681.77 1/1 51 18 0 18 1.0 intronic rs4841209 TNKS AU NM_003747 exon17 c.179547+125T>A 0.705272 0.7212 Uncertain 8_9593138_G->C 8 9593138 9593138 G C snp 342.78 1/1 27 9 0 9 1.0 intronic rs4841210 TNKS AU NM_003747 exon17 c.179547+142G>C 0.700679 0.7014 Uncertain 8_9912220_C->A 8 9912220 9912220 C A snp 1220.77 0/1 99 74 33 41 0.55 intronic rs114746252 MSRA AU NM_001135670 exon1 c.142+52C>A 0.156949 0.0337 0.159812 0.1399 0.0461 Uncertain 8_9912227_C->A 8 9912227 9912227 C A snp 917.77 0/1 99 65 30 35 0.54 intronic MSRA AU NM_001135670 exon1 c.142+59C>A Uncertain 8_10102863_A->G 8 10102863 10102863 A G snp 375.77 0/1 99 25 12 13 0.52 intronic rs4841293 MSRA AU NM_012331 exon3 c.190707+130A>G 0.534345 0.3234 Uncertain 8_10210991_CCGGAGGC->- 8 10210991 10210998 CCGGAGGC - indel 3102.73 1/1 90 31 0 31 1.0 intronic rs111889058 MSRA AU NM_001135670 exon4 c.265473+33492_265473+33499delCCGGAGGC 0.734824 0.5456 Uncertain 8_10211175_C->T 8 10211175 10211175 C T snp 1975.77 0/1 99 161 72 89 0.55 intronic rs6601444 MSRA AU NM_001135670 exon4 c.265473+33676C>T 0.433506 0.4613 0.3382 0.5152 Uncertain 8_10285810_T->C 8 10285810 10285810 T C snp 1432.77 0/1 99 115 57 58 0.5 exonic rs3750314 MSRA AU synonymous SNV NM_001135670 exon5 c.T576C p.G192G 0.241613 0.4157 0.099262 0.1416 0.3936 Uncertain 8_10285825_T->G 8 10285825 10285825 T G snp 2752.77 1/1 99 93 1 92 0.99 UTR3 rs10903326 MSRA AU 0.920327 1 0.912502 0.9765 0.9998 Uncertain 8_10383226_C->G 8 10383226 10383226 C G snp 1314.77 1/1 93 50 0 50 1.0 exonic rs4521726 PRSS55 AU nonsynonymous SNV NM_001197020 exon1 c.C131G p.P44R 0.731829 0.6815 0.760726 0.7923 0.7360 0.61 T 0.0 P -0.949 T 0.0 T 0.0 T Pathogenic 8_10388749_G->A 8 10388749 10388749 G A snp 1942.77 1/1 99 71 0 71 1.0 intronic rs4841366 PRSS55 AU NM_198464 exon3 c.5709-55G>A 0.713858 0.745 Uncertain 8_10390452_C->T 8 10390452 10390452 C T snp 4437.77 1/1 99 161 0 161 1.0 exonic rs4406360 PRSS55 AU nonsynonymous SNV NM_001197020 exon4 c.C635T p.A212V 0.341254 0.4266 0.311164 0.3427 0.4338 0.43 T 0.0 P -1.048 T 0.108 T 0.015 T Pathogenic 8_10396054_A->C 8 10396054 10396054 A C snp 1615.77 1/1 99 55 0 55 1.0 exonic rs6601483 PRSS55 AU synonymous SNV NM_198464 exon5 c.A810C p.I270I 0.669529 0.7639 0.627941 0.6490 0.7674 Uncertain 8_10396353_C->T 8 10396353 10396353 C T snp 1182.77 0/1 99 98 51 47 0.48 intronic rs137855418 PRSS55 AU NM_198464 exon5 c.13238+20C>T 0.00439297 0.0218 0.000158 0.0026 0.0244 Uncertain 8_10464307_G->A 8 10464307 10464307 G A snp 74.77 0/1 99 9 5 4 0.44 UTR3 rs12542104 RP1L1 AD 0.466254 0.5506 Uncertain 8_10464755_C->T 8 10464755 10464755 C T snp 2378.77 0/1 99 170 74 96 0.56 exonic rs55642448 RP1L1 AD nonsynonymous SNV NM_178857 exon4 c.G6853A p.G2285R 0.472045 0.5516 0.376742 0.4702 0.5639 0.17 T 0.0 P -1.081 T 0.532 P 0.144 P Pathogenic 8_10464885_T->C 8 10464885 10464885 T C snp 1684.77 1/1 99 53 0 53 1.0 exonic rs56382513 RP1L1 AD synonymous SNV NM_178857 exon4 c.A6723G p.S2241S 0.650958 0.9792 0.522705 0.6094 0.9739 Uncertain 8_10465190_C->T 8 10465190 10465190 C T snp 868.77 0/1 99 93 51 42 0.45 exonic rs72494282 RP1L1 AD nonsynonymous SNV NM_178857 exon4 c.G6418A p.E2140K 0.169928 0.4236 0.125770 0.1369 0.4094 0.48 T 0.0 P -0.906 T 0.417 T 0.026 T Pathogenic 8_10465205_G->T 8 10465205 10465205 G T snp 846.77 0/1 99 84 43 41 0.49 exonic RP1L1 AD nonsynonymous SNV NM_178857 exon4 c.C6403A p.P2135T 0.39 T 1 N -0.968 T 0.001 T 0.003 T Pathogenic 8_10465344_C->A 8 10465344 10465344 C A snp 603.77 0/1 99 87 55 32 0.37 exonic rs11778341 RP1L1 AD nonsynonymous SNV NM_178857 exon4 c.G6264T p.Q2088H 0.164137 0.4117 0.117955 0.1301 0.3897 0.14 T 0.0 P -0.898 T 0.561 P 0.069 P Pathogenic 8_10465399_T->A 8 10465399 10465399 T A snp 1045.77 0/1 99 104 62 42 0.4 exonic rs11782670 RP1L1 AD nonsynonymous SNV NM_178857 exon4 c.A6209T p.E2070V 0.161342 0.4187 0.111689 0.1294 0.3969 0.25 T 0.0 P -0.880 T 0.992 D 0.878 D Pathogenic 8_10465748_T->C 8 10465748 10465748 T C snp 3625.77 1/1 99 138 0 138 1.0 exonic rs11783478 RP1L1 AD nonsynonymous SNV NM_178857 exon4 c.A5860G p.T1954A 0.649361 0.9772 0.521861 0.6071 0.9735 1 T 0.0 P -0.989 T 0.0 T 0.0 T Pathogenic 8_10465771_G->T 8 10465771 10465771 G T snp 3477.77 1/1 99 140 1 139 0.99 exonic rs11785822 RP1L1 AD nonsynonymous SNV NM_178857 exon4 c.C5837A p.A1946E 0.919728 0.998 0.924049 0.9494 0.9998 1 T 0.0 P -0.977 T 0.0 T 0.0 T Pathogenic 8_10467160_G->A 8 10467160 10467160 G A snp 2129.77 0/1 99 178 89 89 0.5 exonic rs62490855 RP1L1 AD nonsynonymous SNV NM_178857 exon4 c.C4448T p.A1483V 0.176318 0.1597 0.118601 0.1806 0.1620 0.88 T 0.0 P -0.956 T 0.915 T 0.371 D Pathogenic 8_10467207_C->A 8 10467207 10467207 C A snp 5154.77 1/1 99 186 2 184 0.99 exonic rs4840498 RP1L1 AD nonsynonymous SNV NM_178857 exon4 c.G4401T p.R1467S 0.940895 1 0.951579 0.9820 0.9999 1 T 0.0 P -0.979 T 0.0 T 0.0 T Pathogenic 8_10467576_T->C 8 10467576 10467576 T C snp 2964.77 0/1 99 247 138 109 0.44 exonic rs4840499 RP1L1 AD synonymous SNV NM_178857 exon4 c.A4032G p.T1344T 0.3705 0.5959 Uncertain 8_10467589_T->C 8 10467589 10467589 T C snp 3986.77 0/1 99 245 98 147 0.6 exonic rs9657518 RP1L1 AD nonsynonymous SNV NM_178857 exon4 c.A4019G p.E1340G 0.441494 0.5258 0.47 T 0.0 P -0.982 T 0.948 T 0.514 D Pathogenic 8_10467604_C->A 8 10467604 10467604 C A snp 1628.77 0/1 99 250 175 75 0.3 exonic rs74366179 RP1L1 AD nonsynonymous SNV NM_178857 exon4 c.G4004T p.G1335V 0.145686 0.2033 0.2389 0.01 T 0.000 P -0.875 T 0.995 D 0.72 D Pathogenic 8_10467605_C->T 8 10467605 10467605 C T snp 964.77 0/1 99 250 194 56 0.22 exonic rs61503212 RP1L1 AD nonsynonymous SNV NM_178857 exon4 c.G4003A p.G1335R 0.1027 0.0825 0.1 T 0.0 P -0.973 T 0.259 T 0.043 T Pathogenic 8_10467625_T->A 8 10467625 10467625 T A snp 201.77 0/1 99 239 206 33 0.14 exonic rs141205444 RP1L1 AD nonsynonymous SNV NM_178857 exon4 c.A3983T p.E1328V 0.1474 0.1323 0.1 T 1 N -0.945 T 0.003 T 0.001 T Pathogenic 8_10467626_C->T 8 10467626 10467626 C T snp 222.77 0/1 99 240 209 31 0.13 exonic rs141046710 RP1L1 AD nonsynonymous SNV NM_178857 exon4 c.G3982A p.E1328K 0.1471 0.1314 0.32 T 1 N -0.924 T 0.005 T 0.001 T Pathogenic 8_10467627_T->C 8 10467627 10467627 T C snp 2412.77 0/1 99 240 138 102 0.42 exonic rs112656102 RP1L1 AD synonymous SNV NM_178857 exon4 c.A3981G p.T1327T 0.0427 0.0658 Uncertain 8_10467628_G->A 8 10467628 10467628 G A snp 153.77 0/1 99 240 209 31 0.13 exonic rs143544262 RP1L1 AD nonsynonymous SNV NM_178857 exon4 c.C3980T p.T1327I 0.1464 0.1295 0.49 T 1 N -0.922 T 0.026 T 0.009 T Pathogenic 8_10467629_T->C 8 10467629 10467629 T C snp 249.77 0/1 99 242 208 34 0.14 exonic rs139405108 RP1L1 AD nonsynonymous SNV NM_178857 exon4 c.A3979G p.T1327A 0.1304 0.1003 0.58 T 1 N -0.921 T 0.001 T 0.001 T Pathogenic 8_10467629_-->TTC 8 10467629 10467629 - TTC indel 5857.73 0/1 99 242 106 136 0.56 exonic rs146656804 RP1L1 AD nonframeshift insertion NM_178857 exon4 c.3978_3979insGAA p.T1327delinsET 0.0648 0.1403 ID=COSM1488860;OCCURENCE=3(breast) Uncertain 8_10467636_T->C 8 10467636 10467636 T C snp 121.77 0/1 99 250 218 32 0.13 exonic rs4840500 RP1L1 AD synonymous SNV NM_178857 exon4 c.A3972G p.E1324E 0.1644 0.1164 Uncertain 8_10467637_T->C 8 10467637 10467637 T C snp 3807.77 0/1 99 250 109 141 0.56 exonic rs4240659 RP1L1 AD nonsynonymous SNV NM_178857 exon4 c.A3971G p.E1324G 0.29 T 0.0 P -0.960 T 0.0 T 0.0 T Pathogenic 8_10467652_G->C 8 10467652 10467652 G C snp 145.77 0/1 99 250 217 33 0.13 exonic rs4840501 RP1L1 AD nonsynonymous SNV NM_178857 exon4 c.C3956G p.A1319G 0.4793 0.5143 1 T 1 N -0.962 T 0.0 T 0.0 T Pathogenic 8_10468172_G->A 8 10468172 10468172 G A snp 3251.77 0/1 99 250 126 124 0.5 exonic rs4840502 RP1L1 AD nonsynonymous SNV NM_178857 exon4 c.C3436T p.R1146W 0.708067 0.5962 0.707054 0.7309 0.6336 0.16 T 0.0 P -0.959 T 1.0 D 0.952 D Pathogenic 8_10469030_G->A 8 10469030 10469030 G A snp 586.77 0/1 99 66 39 27 0.41 exonic rs62490856 RP1L1 AD nonsynonymous SNV NM_178857 exon4 c.C2578T p.R860W 0.186502 0.2163 0.108938 0.2575 0.3246 0.17 T 0.0 P -0.940 T 0.502 P 0.037 P Pathogenic 8_10469340_G->A 8 10469340 10469340 G A snp 1402.77 0/1 99 115 59 56 0.49 exonic rs57819090 RP1L1 AD synonymous SNV NM_178857 exon4 c.C2268T p.N756N 0.186701 0.2133 0.117446 0.1703 0.2315 Uncertain 8_10469817_G->A 8 10469817 10469817 G A snp 1748.77 0/1 99 174 94 80 0.46 exonic rs6996950 RP1L1 AD synonymous SNV NM_178857 exon4 c.C1791T p.G597G 0.797324 0.6101 0.846209 0.8447 0.6435 Uncertain 8_10470920_G->C 8 10470920 10470920 G C snp 813.77 0/1 99 78 43 35 0.45 intronic RP1L1 AD NM_178857 exon1 c.6452+64G>C Uncertain 8_10470941_C->T 8 10470941 10470941 C T snp 1706.77 1/1 99 64 0 64 1.0 intronic rs4840503 RP1L1 AD NM_178857 exon1 c.6452+85C>T 0.955072 1 Uncertain 8_10474042_T->G 8 10474042 10474042 T G snp 1121.77 0/1 99 111 60 51 0.46 exonic rs4388421 RP1L1 AD nonsynonymous SNV NM_178857 exon3 c.A665C p.H222P 0.216653 0.4573 0.155534 0.1818 0.4433 0.1 T 0.0 P -1.049 T 0.974 D 0.74 D Pathogenic 8_10474110_C->T 8 10474110 10474110 C T snp 757.77 0/1 99 46 17 29 0.63 intronic rs62490859 RP1L1 AD NM_178857 exon2 c.9693+13C>T 0.146965 0.1151 0.098354 0.1451 0.1292 Uncertain 8_10480211_T->C 8 10480211 10480211 T C snp 1056.77 0/1 99 105 58 47 0.45 exonic rs79329877 RP1L1 AD synonymous SNV NM_178857 exon2 c.A501G p.T167T 0.0261581 0.0625 0.001390 0.0217 0.0654 Uncertain 8_10480798_G->T 8 10480798 10480798 G T snp 178.9 1/1 15 5 0 5 1.0 intronic rs4532562 RP1L1 AD NM_178857 exon3 c.16326+68G>T 0.961262 0.997 Uncertain 8_10530037_G->A 8 10530037 10530037 G A snp 77.77 0/1 99 7 4 3 0.43 upstream rs11250057 C8orf74 AU 0.745807 0.9395 Uncertain 8_10530218_C->T 8 10530218 10530218 C T snp 2297.77 1/1 99 90 0 90 1.0 exonic rs11250058 C8orf74 AU nonsynonymous SNV NM_001040032 exon1 c.C43T p.L15F 0.992412 0.9643 0.999917 0.9983 0.9715 0.65 T 0.0 P -0.992 T 0.0 T 0.003 T Pathogenic 8_10530351_G->T 8 10530351 10530351 G T snp 204.77 0/1 99 20 12 8 0.4 intronic rs80181543 C8orf74 AU NM_001040032 exon1 c.48+128G>T 0.0549121 0.0228 Uncertain 8_10531087_A->G 8 10531087 10531087 A G snp 590.77 0/1 99 38 14 24 0.63 intronic rs10216539 C8orf74 AU NM_001040032 exon1 c.48+864A>G 0.245008 0.0248 Uncertain 8_10532355_T->C 8 10532355 10532355 T C snp 1502.77 0/1 99 113 48 65 0.58 intronic rs4841419 C8orf74 AU NM_001040032 exon2 c.2173+7T>C 0.927716 0.9474 0.943629 0.9722 0.9425 Uncertain 8_10532401_A->G 8 10532401 10532401 A G snp 1722.77 1/1 99 56 0 56 1.0 intronic rs4840505 C8orf74 AU NM_001040032 exon2 c.2173+53A>G 0.99381 0.9712 Uncertain 8_10532441_T->G 8 10532441 10532441 T G snp 285.77 0/1 99 23 13 10 0.43 intronic rs116324751 C8orf74 AU NM_001040032 exon2 c.2173+93T>G 0.0626997 0.0228 Uncertain 8_10555104_T->C 8 10555104 10555104 T C snp 2992.77 0/1 99 233 106 127 0.55 splicing rs12680711 C8orf74 AU NM_001040032 exon3 c.24933-4T>C 0.221446 0.0238 0.187580 0.0690 0.0275 Pathogenic 8_10555189_C->T 8 10555189 10555189 C T snp 3692.77 0/1 99 250 109 141 0.56 exonic rs61742975 C8orf74 AU synonymous SNV NM_001040032 exon3 c.C322T p.L108L 0.0756789 0.0179 0.066698 0.0236 0.0233 Uncertain 8_10555540_G->A 8 10555540 10555540 G A snp 152.77 0/1 99 10 4 6 0.6 intronic rs73532622 C8orf74 AU NM_001040032 exon3 c.25340+25G>A 0.0898562 0.0208 0.045960 0.0543 0.0816 Uncertain 8_10557636_G->C 8 10557636 10557636 G C snp 33.77 0/1 62 6 4 2 0.33 intronic rs59276210 C8orf74 AU NM_001040032 exon4 c.27569-108G>C 0.0742812 0.0188 Uncertain 8_10557760_A->G 8 10557760 10557760 A G snp 1483.77 0/1 99 129 62 67 0.52 exonic rs57041981 C8orf74 AU nonsynonymous SNV NM_001040032 exon4 c.A664G p.I222V 0.247804 0.123 0.189808 0.0870 0.1304 0.96 T 0.0 P -0.962 T 0.0 T 0.001 T Pathogenic 8_10558078_T->C 8 10558078 10558078 T C snp 490.77 0/1 99 34 14 20 0.59 UTR3 rs59747969 C8orf74 AU 0.249601 0.128 Uncertain 8_10583203_A->G 8 10583203 10583203 A G snp 1864.77 1/1 99 64 0 64 1.0 UTR3 rs10110624 SOX7 AU 0.64996 0.3423 0.727503 0.6501 0.3469 Uncertain 8_10583506_A->G 8 10583506 10583506 A G snp 1217.77 0/1 99 96 43 53 0.55 exonic rs4841432 SOX7 AU synonymous SNV NM_031439 exon2 c.T909C p.L303L 0.432708 0.1359 0.493695 0.3709 0.1523 Uncertain 8_10584212_C->T 8 10584212 10584212 C T snp 3070.77 1/1 99 99 0 99 1.0 intronic rs10100209 SOX7 AU NM_031439 exon1 c.929+36C>T 0.635982 0.4256 0.665282 0.5955 0.4433 Uncertain 8_10584288_C->T 8 10584288 10584288 C T snp 451.77 1/1 36 15 0 15 1.0 intronic rs10100333 SOX7 AU NM_031439 exon1 c.929+112C>T 0.581669 0.3333 Uncertain 8_10623104_C->T 8 10623104 10623104 C T snp 1593.77 0/1 99 115 52 63 0.55 exonic rs150489215 PINX1 AU nonsynonymous SNV NM_017884 exon7 c.G794A p.C265Y 0.00259585 0.0119 0.000498 0.0024 0.0102 0.13 T 1.000 N -1.011 T 0.196 T 0.036 T Pathogenic 8_10623138_T->A 8 10623138 10623138 T A snp 2061.77 0/1 99 157 75 82 0.52 exonic rs1078543 PINX1 AU nonsynonymous SNV NM_017884 exon7 c.A760T p.S254C 0.188299 0.0288 0.207112 0.1341 0.0294 0.09 T 1.000 P -0.905 T 0.913 T 0.408 D Pathogenic 8_10645114_T->A 8 10645114 10645114 T A snp 435.77 0/1 99 40 22 18 0.45 intronic rs17152410 PINX1 AU NM_001284356 exon1 c.131+21688T>A 0.119209 0.0258 Uncertain 8_10677601_G->C 8 10677601 10677601 G C snp 77.77 0/1 69 5 2 3 0.6 intronic rs2277130 PINX1 AU NM_017884 exon2 c.54792-101G>C 0.548522 0.2401 Uncertain 8_10683623_G->A 8 10683623 10683623 G A snp 1466.77 0/1 99 152 84 68 0.45 intronic rs2271357 PINX1 AU NM_001284356 exon2 c.60366-38G>A 0.429513 0.2242 0.442060 0.3973 0.2257 Uncertain 8_10689050_T->C 8 10689050 10689050 T C snp 59.77 0/1 88 15 12 3 0.2 intronic rs6991526 PINX1 AU NM_001284356 exon3 c.65879-124T>C 0.4375 0.2222 Uncertain 8_10689142_G->T 8 10689142 10689142 G T snp 1088.77 0/1 99 107 60 47 0.44 intronic rs7004998 PINX1 AU NM_001284356 exon3 c.65879-32G>T 0.405551 0.2202 0.416596 0.4154 0.3098 Uncertain 8_10690244_T->C 8 10690244 10690244 T C snp 458.77 0/1 99 21 8 13 0.62 intronic rs2292371 PINX1 AU NM_001284356 exon4 c.67106-157T>C 0.40635 0.2202 Uncertain 8_10690319_G->A 8 10690319 10690319 G A snp 1431.77 0/1 99 99 36 63 0.64 intronic rs2292370 PINX1 AU NM_001284356 exon4 c.67106-82G>A 0.40615 0.2202 Uncertain 8_10690544_AGA->- 8 10690544 10690546 AGA - indel 1091.73 0/1 99 47 21 26 0.55 intronic rs3062483 PINX1 AU NM_001284356 exon4 c.67199+50_67199+52delAGA 0.40595 0.2202 0.424148 0.3305 0.2075 Uncertain 8_10690638_G->C 8 10690638 10690638 G C snp 117.78 0/1 25 5 1 4 0.8 intronic rs2409650 PINX1 AU NM_001284356 exon4 c.67199+144G>C 0.40655 0.2212 Uncertain 8_10691199_G->C 8 10691199 10691199 G C snp 34.77 0/1 63 5 3 2 0.4 intronic rs11989260 PINX1 AU NM_001284356 exon4 c.67199+705G>C 0.352436 0.1687 Uncertain 8_10691215_AT->- 8 10691215 10691216 AT - indel 161.73 0/1 99 15 10 5 0.33 intronic rs377158553 PINX1 AU NM_001284356 exon4 c.67199+721_67199+722delAT Uncertain 8_10691277_A->C 8 10691277 10691277 A C snp 744.77 0/1 99 79 46 33 0.42 intronic rs11986043 PINX1 AU NM_001284356 exon4 c.67199+783A>C 0.516773 0.248 0.6576 0.3846 0.24 T 0.0 P -1.012 T Uncertain 8_10691318_T->C 8 10691318 10691318 T C snp 1086.77 0/1 99 120 70 50 0.42 intronic rs11986845 PINX1 AU NM_001284356 exon4 c.67199+824T>C 0.508187 0.2143 0.6822 0.5556 Uncertain 8_10691334_G->C 8 10691334 10691334 G C snp 1205.77 0/1 99 139 80 59 0.42 intronic rs79490891 PINX1 AU NM_001284356 exon4 c.67199+840G>C 0.116813 0.0258 0.1176 0 Uncertain 8_10691348_G->T 8 10691348 10691348 G T snp 1310.77 0/1 99 145 79 66 0.46 intronic rs73531553 PINX1 AU NM_001284356 exon5 c.68880-827G>T 0.116813 0.0258 Uncertain 8_10691410_G->A 8 10691410 10691410 G A snp 1157.77 0/1 99 114 62 52 0.46 intronic rs73531554 PINX1 AU NM_001284356 exon5 c.68880-765G>A 0.117812 0.0258 Uncertain 8_10691489_C->T 8 10691489 10691489 C T snp 365.77 0/1 99 27 14 13 0.48 intronic rs11996727 PINX1 AU NM_001284356 exon5 c.68880-686C>T 0.510783 0.2212 Uncertain 8_10691549_T->A 8 10691549 10691549 T A snp 120.77 0/1 66 6 2 4 0.67 intronic rs11986935 PINX1 AU NM_001284356 exon5 c.68880-626T>A 0.508586 0.2212 Uncertain 8_10692158_C->T 8 10692158 10692158 C T snp 1749.77 0/1 99 198 120 78 0.39 intronic rs2271355 PINX1 AU NM_001284356 exon5 c.68880-17C>T 0.489018 0.1756 0.591186 0.4957 0.1777 Uncertain 8_10692359_C->T 8 10692359 10692359 C T snp 1888.77 0/1 99 128 55 73 0.57 intronic rs1549796 PINX1 AU NM_001284356 exon5 c.68990+74C>T 0.512181 0.2212 Uncertain 8_10782442_A->C 8 10782442 10782442 A C snp 268.77 0/1 54 10 2 8 0.8 intronic rs4841459 XKR6 AU NM_173683 exon2 c.26879+102A>C 0.458267 0.0308 Uncertain 8_11105077_C->T 8 11105077 11105077 C T snp 432.77 1/1 33 14 0 14 1.0 intergenic rs2572431 XKR6 AU 0.595048 0.5536 Uncertain 8_11105304_T->G 8 11105304 11105304 T G snp 3327.77 1/1 99 130 0 130 1.0 intergenic rs2572430 XKR6 AU 0.503594 0.5407 Uncertain 8_11142389_-->G 8 11142389 11142389 - G indel 4234.73 1/1 99 120 0 120 1.0 UTR5 rs3021505 MTMR9 AU 0.723043 0.871 0.651271 0.6297 0.9072 Uncertain 8_11142625_T->C 8 11142625 11142625 T C snp 1559.77 1/1 99 50 0 50 1.0 intronic rs2272594 MTMR9 AU NM_015458 exon1 c.182+46T>C 0.716054 0.87 0.639663 0.6213 0.9065 Uncertain 8_11152957_C->T 8 11152957 11152957 C T snp 143.03 1/1 12 5 0 5 1.0 intronic rs2245937 MTMR9 AU NM_015458 exon2 c.10414+146C>T 0.722644 0.8671 Uncertain 8_11155613_A->G 8 11155613 11155613 A G snp 438.77 1/1 33 12 0 12 1.0 intronic rs2409754 MTMR9 AU NM_015458 exon3 c.15134-1918A>G 0.730631 0.877 Uncertain 8_11157371_A->C 8 11157371 11157371 A C snp 254.8 1/1 21 7 0 7 1.0 intronic rs2736387 MTMR9 AU NM_015458 exon3 c.15134-160A>C 0.644768 0.8631 Uncertain 8_11157460_T->G 8 11157460 11157460 T G snp 2595.77 1/1 99 85 1 84 0.99 intronic rs3808513 MTMR9 AU NM_015458 exon3 c.15134-71T>G 0.411542 0.7708 Uncertain 8_11162496_A->C 8 11162496 11162496 A C snp 3900.77 1/1 99 140 1 139 0.99 exonic rs2164272 MTMR9 AU synonymous SNV NM_015458 exon4 c.A564C p.L188L 0.40016 0.7063 0.335461 0.4198 0.7324 Uncertain 8_11162602_C->A 8 11162602 11162602 C A snp 910.77 1/1 66 28 2 26 0.93 intronic rs2256016 MTMR9 AU NM_015458 exon4 c.20126+79C>A 0.684704 0.873 Uncertain 8_11162609_T->C 8 11162609 11162609 T C snp 798.77 1/1 60 23 0 23 1.0 intronic rs2060465 MTMR9 AU NM_015458 exon4 c.20126+86T>C 0.400958 0.7073 Uncertain 8_11164012_T->C 8 11164012 11164012 T C snp 529.77 1/1 42 16 0 16 1.0 intronic rs17797443 MTMR9 AU NM_015458 exon5 c.21519+96T>C 0.400559 0.7004 Uncertain 8_11174484_G->C 8 11174484 11174484 G C snp 1501.77 1/1 99 49 0 49 1.0 intronic rs11784572 MTMR9 AU NM_015458 exon8 c.32005+82G>C 0.701677 0.9752 Uncertain 8_11177410_G->A 8 11177410 11177410 G A snp 1323.77 1/1 93 52 0 52 1.0 intronic rs2293855 MTMR9 AU NM_015458 exon9 c.34950+63G>A 0.393371 0.6974 ID=CS076632;DIS=Higher body mass index, association with;TAG=DP;PUB=17855449 DP Uncertain 8_11177447_C->T 8 11177447 11177447 C T snp 818.77 1/1 60 27 0 27 1.0 intronic rs2293856 MTMR9 AU NM_015458 exon9 c.34950+100C>T 0.399361 0.7321 Uncertain 8_11188743_C->T 8 11188743 11188743 C T snp 199.84 1/1 18 7 0 7 1.0 exonic rs13260331 SLC35G5 AU nonsynonymous SNV NM_054028 exon1 c.C128T p.A43V 0.317093 0.5833 0.287098 0.3688 0.6159 0.47 T 0.396 P -0.938 T 0.997 D 0.985 D Pathogenic 8_11188752_G->A 8 11188752 11188752 G A snp 365.77 1/1 30 10 0 10 1.0 exonic rs6990563 SLC35G5 AU nonsynonymous SNV NM_054028 exon1 c.G137A p.G46D 0.426518 0.7351 0.377518 0.4625 0.7605 0.02 T 0.998 P -0.947 T 0.998 D 0.916 D Pathogenic 8_11204165_C->T 8 11204165 11204165 C T snp 3138.77 1/1 99 113 0 113 1.0 ncRNA_intronic rs2572387 TDH AU 0.611422 0.8869 0.5505 0.9091 Uncertain 8_11204184_G->A 8 11204184 11204184 G A snp 3110.77 1/1 99 115 0 115 1.0 ncRNA_intronic rs11784458 TDH AU 0.431909 0.7649 0.4908 0.7955 Uncertain 8_11204755_T->C 8 11204755 11204755 T C snp 7277.77 1/1 99 250 0 250 1.0 ncRNA_intronic rs11777746 TDH AU 0.588658 0.8859 Uncertain 8_11292542_C->T 8 11292542 11292542 C T snp 904.77 0/1 99 78 38 40 0.51 ncRNA_exonic rs2280803 FAM167A-AS1 AU 0.559704 0.7103 0.5373 0.7652 Uncertain 8_11295511_A->G 8 11295511 11295511 A G snp 1010.77 0/1 99 101 60 41 0.41 ncRNA_intronic rs2001463 FAM167A-AS1 AU 0.726238 0.7183 0.7046 0.7632 Uncertain 8_11296189_T->C 8 11296189 11296189 T C snp 135.03 1/1 12 4 0 4 1.0 intronic rs12674532 FAM167A AU NM_053279 exon2 c.19658-5350T>C 0.0654952 0.2599 Uncertain 8_11301753_A->C 8 11301753 11301753 A C snp 2278.77 1/1 99 77 0 77 1.0 exonic rs3021513 FAM167A AU nonsynonymous SNV NM_053279 exon2 c.T168G p.H56Q 0.997804 1 0.993849 0.9950 1 1 T 0.000 P -1.019 T 0.0 T 0.0 T Pathogenic 8_11400628_C->G 8 11400628 11400628 C G snp 503.77 1/1 39 16 0 16 1.0 intronic rs12386974 BLK AD 0.677915 0.996 Uncertain 8_11403769_C->G 8 11403769 11403769 C G snp 608.77 1/1 45 18 0 18 1.0 intronic rs2244931 BLK AD NM_001715 exon3 c.2879+157C>G 0.521965 0.8056 Uncertain 8_11405341_C->A 8 11405341 11405341 C A snp 303.78 1/1 24 8 0 8 1.0 intronic rs2306232 BLK AD NM_001715 exon4 c.4807-199C>A 0.540136 0.9226 Uncertain 8_11405437_G->A 8 11405437 11405437 G A snp 2610.77 1/1 99 89 0 89 1.0 intronic rs6994605 BLK AD NM_001715 exon4 c.4807-103G>A 0.901957 0.999 Uncertain 8_11406815_T->C 8 11406815 11406815 T C snp 182.9 1/1 15 5 0 5 1.0 intronic rs4841553 BLK AD NM_001715 exon5 c.5898+184T>C 0.575679 0.9435 Uncertain 8_11414013_G->C 8 11414013 11414013 G C snp 398.77 1/1 30 12 0 12 1.0 intronic rs11250147 BLK AD NM_001715 exon9 c.13433-153G>C 0.507788 0.9157 Uncertain 8_11414237_T->C 8 11414237 11414237 T C snp 3541.77 1/1 99 130 0 130 1.0 exonic rs2306234 BLK AD synonymous SNV NM_001715 exon9 c.T843C p.F281F 0.827676 0.9474 0.812471 0.8317 0.9505 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000116500.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 8_11416122_T->C 8 11416122 11416122 T C snp 456.77 1/1 33 20 0 20 1.0 intronic rs2467518 BLK AD NM_001715 exon10 c.14814+575T>C 0.998802 1 0.9998 1 Uncertain 8_11417225_G->A 8 11417225 11417225 G A snp 378.77 0/1 99 33 17 16 0.48 intronic rs74993905 BLK AD NM_001715 exon11 c.18077-1585G>A 0.00339457 0.0139 Uncertain 8_11417493_T->C 8 11417493 11417493 T C snp 693.77 1/1 51 22 0 22 1.0 intronic rs10098664 BLK AD NM_001715 exon11 c.18077-1317T>C 0.638978 0.9643 Uncertain 8_11418385_G->A 8 11418385 11418385 G A snp 2619.77 1/1 99 97 0 97 1.0 intronic rs2898289 BLK AD NM_001715 exon11 c.18077-425G>A 0.465256 0.9266 0.4235 0.955 0 D 0.0 P -1.041 T 0.009 T 0.008 T Uncertain 8_11418773_C->T 8 11418773 11418773 C T snp 7337.77 1/1 99 249 0 249 1.0 intronic rs4841561 BLK AD NM_001715 exon11 c.18077-37C>T 0.503994 0.9276 0.360274 0.4804 0.9230 0.16 T 0.0 P -1.009 T 0.759 T 0.435 P Uncertain 8_11421321_T->C 8 11421321 11421321 T C snp 401.77 1/1 30 13 0 13 1.0 intronic rs13248757 BLK AD NM_001715 exon13 c.20678-90T>C 0.353435 0.9058 Uncertain 8_11421358_C->A 8 11421358 11421358 C A snp 1172.77 1/1 87 40 0 40 1.0 intronic rs10097005 BLK AD NM_001715 exon13 c.20678-53C>A 0.55631 0.9266 Uncertain 8_11421384_C->T 8 11421384 11421384 C T snp 1735.77 1/1 99 65 0 65 1.0 intronic rs10097015 BLK AD NM_001715 exon13 c.20678-27C>T 0.545327 0.9266 0.376333 0.5291 0.9215 Uncertain 8_11421793_C->T 8 11421793 11421793 C T snp 2050.77 1/1 99 67 1 66 0.99 UTR3 rs1042689 BLK AD 0.557109 0.9266 0.4932 0.9603 Uncertain 8_11422289_G->C 8 11422289 11422289 G C snp 139.03 1/1 12 4 0 4 1.0 downstream rs2250986 BLK AD 0.547125 0.9385 Uncertain 8_11606312_T->C 8 11606312 11606312 T C snp 1265.77 1/1 93 33 0 33 1.0 intronic rs3735819 GATA4 AD NM_002052 exon3 c.40606-115T>C 0.871605 0.9861 Uncertain 8_11607930_C->T 8 11607930 11607930 C T snp 431.77 1/1 33 11 0 11 1.0 intronic rs3729848 GATA4 AD NM_002052 exon4 c.41924+185C>T 0.188698 0.2649 Uncertain 8_11612698_C->A 8 11612698 11612698 C A snp 1175.77 1/1 84 40 0 40 1.0 intronic rs804280 GATA4 AD NM_002052 exon5 c.46821+56C>A 0.734425 0.9861 0.593955 CLINSIG=unknown;CLNDBN=not_provided;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000128537.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 ID=CS151738;DIS=Tetralogy of Fallot, association with;TAG=DP;PUB=NO ID DP Uncertain 8_11614316_T->C 8 11614316 11614316 T C snp 509.77 1/1 39 17 0 17 1.0 intronic rs3729853 GATA4 AD NM_002052 exon6 c.48622-127T>C 0.658546 0.997 Uncertain 8_11614329_C->T 8 11614329 11614329 C T snp 974.77 1/1 75 30 0 30 1.0 intronic rs3729854 GATA4 AD NM_002052 exon6 c.48622-114C>T 0.266374 0.2659 Uncertain 8_11619163_A->G 8 11619163 11619163 A G snp 2665.77 1/1 99 84 0 84 1.0 ncRNA_exonic rs809204 C8orf49 AU 0.251597 0.2411 0.3122 0.265 0 D 0.0 P -0.930 T 0.566 P 0.351 P Uncertain 8_11619261_T->A 8 11619261 11619261 T A snp 5250.77 1/1 99 196 0 196 1.0 ncRNA_exonic rs2740431 C8orf49 AU 0.943291 0.999 0.9385 1 Uncertain 8_11619334_C->T 8 11619334 11619334 C T snp 6826.77 1/1 99 237 0 237 1.0 ncRNA_exonic rs811966 C8orf49 AU 0.698283 0.7966 0.6794 0.795 Uncertain 8_11619504_T->A 8 11619504 11619504 T A snp 4201.77 1/1 99 158 0 158 1.0 ncRNA_exonic rs809203 C8orf49 AU 0.251398 0.2411 0.3114 0.2626 1 T 0.990 P Uncertain 8_11619635_T->A 8 11619635 11619635 T A snp 1509.77 1/1 99 52 0 52 1.0 ncRNA_exonic rs2645455 C8orf49 AU 0.696286 0.8016 0.6943 0.7842 Uncertain 8_11629119_T->C 8 11629119 11629119 T C snp 3805.77 1/1 99 129 0 129 1.0 intronic rs804269 NEIL2 AU NM_001135748 exon3 c.143+20T>C 0.697883 0.9752 0.603183 0.7141 0.9740 Uncertain 8_11629241_G->A 8 11629241 11629241 G A snp 1494.77 1/1 99 48 0 48 1.0 intronic rs804267 NEIL2 AU NM_001135748 exon3 c.143+142G>A 0.691693 0.9732 Uncertain 8_11643429_T->C 8 11643429 11643429 T C snp 685.77 0/1 99 60 29 31 0.52 intronic NEIL2 AU NM_001135748 exon5 c.14515-42T>C Uncertain 8_11643915_G->A 8 11643915 11643915 G A snp 345.78 1/1 27 10 0 10 1.0 UTR3 rs804292 NEIL2 AU 0.827077 0.999 Uncertain 8_11659703_T->C 8 11659703 11659703 T C snp 86.77 0/1 30 4 1 3 0.75 upstream rs12056541 FDFT1 AU 0.237819 0.505 Uncertain 8_11660051_A->G 8 11660051 11660051 A G snp 2872.77 1/1 99 109 0 109 1.0 upstream rs2645429 FDFT1 AU 0.740016 0.7103 Uncertain 8_11660614_C->T 8 11660614 11660614 C T snp 172.9 1/1 15 6 0 6 1.0 intronic rs1497042 FDFT1 AU NM_004462 exon1 c.99+174C>T 0.509984 0.6865 Uncertain 8_11660764_G->C 8 11660764 11660764 G C snp 1019.77 0/1 99 110 64 46 0.42 intronic rs2280922 FDFT1 AU NM_004462 exon1 c.99+324G>C 0.240815 0.4653 Uncertain 8_11660916_C->T 8 11660916 11660916 C T snp 1501.77 1/1 99 51 0 51 1.0 intronic rs2252567 FDFT1 AU NM_004462 exon1 c.99+476C>T 0.509585 0.6835 0.6325 0.6479 Uncertain 8_11665959_C->T 8 11665959 11665959 C T snp 188.9 1/1 15 10 0 10 1.0 intronic rs1032577 FDFT1 AU NM_004462 exon2 c.5961-343C>T 0.555511 0.7044 Uncertain 8_11666219_TCCCAC->- 8 11666219 11666224 TCCCAC - indel 12616.7 1/1 99 187 0 187 1.0 intronic rs71711801 FDFT1 AU NM_004462 exon2 c.5961-83_5961-78delTCCCAC Uncertain 8_11666451_C->T 8 11666451 11666451 C T snp 4746.77 1/1 99 161 0 161 1.0 intronic rs1616534 FDFT1 AU NM_001287749 exon2 c.5+51C>T 0.523163 0.6776 0.491694 0.5802 0.6404 Uncertain 8_11667179_C->T 8 11667179 11667179 C T snp 829.77 0/1 99 78 38 40 0.51 exonic rs8417 FDFT1 AU synonymous SNV NM_004462 exon3 c.C201T p.N67N 0.237819 0.4474 0.166539 0.2242 0.4337 Uncertain 8_11683653_T->C 8 11683653 11683653 T C snp 2985.77 1/1 99 111 0 111 1.0 exonic rs904011 FDFT1 AU synonymous SNV NM_004462 exon5 c.T631C p.L211L 0.97504 1 0.973704 0.9931 1 Uncertain 8_11683818_T->C 8 11683818 11683818 T C snp 139.77 0/1 63 7 2 5 0.71 intronic rs2294136 FDFT1 AU NM_001287751 exon4 c.16491+94T>C 0.319089 0.7728 Uncertain 8_11687938_G->C 8 11687938 11687938 G C snp 717.77 1/1 54 20 0 20 1.0 intronic rs1293313 FDFT1 AU NM_001287751 exon5 c.20696+9G>C 0.970048 1 0.970552 0.9915 1 Uncertain 8_11687959_C->T 8 11687959 11687959 C T snp 175.77 0/1 99 18 10 8 0.44 intronic rs2294137 FDFT1 AU NM_001287751 exon5 c.20696+30C>T 0.298922 0.75 0.159926 0.2713 0.7737 Uncertain 8_11689119_G->C 8 11689119 11689119 G C snp 715.77 0/1 99 101 66 35 0.35 exonic rs9205 FDFT1 AU synonymous SNV NM_004462 exon7 c.G972C p.L324L 0.306909 0.7252 0.177380 0.2751 0.7410 Uncertain 8_11689228_T->G 8 11689228 11689228 T G snp 697.77 1/1 51 23 0 23 1.0 intronic rs2409836 FDFT1 AU NM_001287751 exon6 c.21946+49T>G 0.65615 0.994 0.515608 0.6364 0.9940 Uncertain 8_11695872_T->C 8 11695872 11695872 T C snp 2453.77 1/1 99 77 0 77 1.0 intronic rs10903343 FDFT1 AU NM_001287751 exon7 c.28663-24T>C 0.631789 0.9683 0.508996 0.6245 0.9600 Uncertain 8_11695931_C->G 8 11695931 11695931 C G snp 1818.77 0/1 99 183 99 84 0.46 exonic rs79708434 FDFT1 AU nonsynonymous SNV NM_004462 exon8 c.C1067G p.S356C 0.00399361 0.0188 0.0018 0.0232 0.12 T 0.983 N -0.793 T 0.998 D 0.881 D ID=COSM150451;OCCURENCE=1(stomach) Pathogenic 8_11696115_C->G 8 11696115 11696115 C G snp 784.77 0/1 99 55 26 29 0.53 exonic rs80310078 FDFT1 AU nonsynonymous SNV NM_004462 exon8 c.C1251G p.H417Q 0.00459265 0.0218 0.0021 0.0276 0.01 T 0.989 N -1.049 T 0.022 T 0.01 T ID=COSM150452;OCCURENCE=1(stomach) Pathogenic 8_11702542_T->C 8 11702542 11702542 T C snp 93.77 0/1 99 10 6 4 0.4 UTR3 rs8898 CTSB AU 0.407548 0.5218 Uncertain 8_11704457_A->C 8 11704457 11704457 A C snp 444.77 0/1 99 31 16 15 0.48 intronic rs1692816 CTSB AU NM_147782 exon3 c.1927-103A>C 0.567891 0.501 Uncertain 8_11705139_C->T 8 11705139 11705139 C T snp 1028.77 0/1 99 79 40 39 0.49 intronic rs2294138 CTSB AU NM_147782 exon4 c.2554-48C>T 0.366014 0.496 0.320237 0.3557 0.4743 Uncertain 8_11705342_G->C 8 11705342 11705342 G C snp 1908.77 0/1 99 149 69 80 0.54 intronic rs1736088 CTSB AU NM_147782 exon4 c.2698+11G>C 0.549321 0.497 0.596263 0.5681 0.4752 Uncertain 8_11705380_-->AGCCCCAGCTGGGCGAGGC 8 11705380 11705380 - AGCCCCAGCTGGGCGAGGC indel 11562.7 0/1 99 110 50 60 0.55 intronic rs149445749 CTSB AU NM_147782 exon4 c.2698+49insAGCCCCAGCTGGGCGAGGC 0.327875 0.2708 0.5296 0.4222 Uncertain 8_11705442_G->T 8 11705442 11705442 G T snp 556.77 0/1 99 49 27 22 0.45 intronic rs2294139 CTSB AU NM_147782 exon4 c.2698+111G>T 0.34345 0.4653 Uncertain 8_11705677_C->G 8 11705677 11705677 C G snp 1879.77 0/1 99 169 85 84 0.5 intronic rs2294140 CTSB AU NM_147782 exon5 c.3028+16C>G 0.464457 0.502 0.410503 0.4035 0.4866 0.000 P -0.921 T 0.002 T 0.002 T Uncertain 8_11706581_T->G 8 11706581 11706581 T G snp 1355.77 0/1 99 116 56 60 0.52 exonic rs13332 CTSB AU synonymous SNV NM_001908 exon5 c.A420C p.T140T 0.569888 0.5119 0.650008 0.5716 0.4952 Uncertain 8_11708355_G->A 8 11708355 11708355 G A snp 377.77 0/1 99 21 8 13 0.62 intronic rs2272766 CTSB AU NM_147782 exon7 c.5741-19G>A 0.384784 0.505 0.345763 0.4173 0.5415 Uncertain 8_11710301_A->G 8 11710301 11710301 A G snp 1032.77 0/1 99 68 34 34 0.5 intronic rs1293291 CTSB AU NM_147782 exon8 c.7571+97A>G 0.609425 0.5179 Uncertain 8_11710888_G->C 8 11710888 11710888 G C snp 2683.77 0/1 99 250 134 116 0.46 exonic rs12338 CTSB AU nonsynonymous SNV NM_001908 exon2 c.C76G p.L26V 0.395966 0.5149 0.362371 0.3807 0.5050 0.01 T 1.000 P -1.005 T 0.01 T 0.017 T ID=CM066015;DIS=Tropical calcific pancreatitis, association with;TAG=DP;PUB=16492714 DP Pathogenic 8_11711059_C->T 8 11711059 11711059 C T snp 290.77 0/1 99 19 9 10 0.53 intronic rs2272767 CTSB AU NM_147782 exon9 c.8355+71C>T 0.331669 0.4673 Uncertain 8_11831948_T->C 8 11831948 11831948 T C snp 2790.77 1/1 99 99 0 99 1.0 intronic rs7461062 DEFB136 AU NM_001033018 exon2 c.608-105T>C 0.771965 0.9851 Uncertain 8_11832079_A->G 8 11832079 11832079 A G snp 3764.77 1/1 99 141 1 140 0.99 exonic rs10108075 DEFB136 AU synonymous SNV NM_001033018 exon1 c.T30C p.F10F 0.771965 0.9851 0.618464 0.6442 0.9832 Uncertain 8_11839799_A->T 8 11839799 11839799 A T snp 632.77 0/1 99 48 26 22 0.46 upstream rs6991081 DEFB135 AU 0.16274 0.0427 0.166965 0.0798 0.0445 Uncertain 8_11840011_A->G 8 11840011 11840011 A G snp 832.77 0/1 99 82 48 34 0.41 intronic rs7004833 DEFB135 AU NM_001033017 exon1 c.64+118A>G 0.16234 0.0427 Uncertain 8_11840071_C->T 8 11840071 11840071 C T snp 261.77 0/1 99 19 9 10 0.53 intronic rs6985349 DEFB135 AU NM_001033017 exon1 c.64+178C>T 0.150359 0.0427 Uncertain 8_11853596_A->G 8 11853596 11853596 A G snp 1122.77 0/1 99 100 51 49 0.49 intronic rs11250186 DEFB134 AU NM_001302695 exon2 c.2214-106A>G 0.597444 0.9087 Uncertain 8_11872560_A->G 8 11872560 11872560 A G snp 91.77 0/1 33 7 2 5 0.71 intergenic rs111242314 DEFB134 AU 0.158347 0.0367 0.0652 0.0532 Uncertain 8_11872601_C->T 8 11872601 11872601 C T snp 82.77 0/1 33 7 2 5 0.71 intergenic rs113582410 DEFB134 AU 0.0924521 0.0367 0.0512 0.0556 Uncertain 8_11872648_C->A 8 11872648 11872648 C A snp 88.77 0/1 33 6 2 4 0.67 intergenic rs112959471 DEFB134 AU 0.0926518 0.0367 0.0562 0.0714 Uncertain 8_12516729_T->G 8 12516729 12516729 T G snp 57.74 1/1 6 3 0 3 1.0 ncRNA_exonic rs658131 LOC729732 AU 0.95028 0.9643 0.9884 0.945 Uncertain 8_12516857_T->C 8 12516857 12516857 T C snp 399.77 1/1 30 18 0 18 1.0 ncRNA_exonic rs1808161 LOC729732 AU 0.513578 0.6389 0.6408 0.6186 Uncertain 8_12517027_C->G 8 12517027 12517027 C G snp 59.74 1/1 6 3 0 3 1.0 ncRNA_exonic rs2002368 LOC729732 AU 0.366813 0.5833 0.4719 0.4804 Uncertain 8_12584659_C->T 8 12584659 12584659 C T snp 227.84 1/1 18 8 0 8 1.0 intronic rs10095845 LONRF1 AU NM_152271 exon2 c.2784+1271C>T 0.814097 0.9772 Uncertain 8_12589179_C->A 8 12589179 12589179 C A snp 169.9 1/1 15 5 0 5 1.0 intronic rs3802269 LONRF1 AU NM_152271 exon5 c.8640-65C>A 0.526158 0.6121 Uncertain 8_12592956_C->A 8 12592956 12592956 C A snp 2460.77 1/1 99 90 0 90 1.0 intronic rs13251315 LONRF1 AU NM_152271 exon6 c.12305+47C>A 0.753794 0.9335 0.800452 0.8625 0.9514 Uncertain 8_12593045_A->G 8 12593045 12593045 A G snp 827.77 1/1 63 24 0 24 1.0 intronic rs13272425 LONRF1 AU NM_152271 exon6 c.12305+136A>G 0.848842 0.9395 Uncertain 8_12598608_C->T 8 12598608 12598608 C T snp 599.77 1/1 45 16 0 16 1.0 intronic rs4831354 LONRF1 AU NM_152271 exon10 c.17901+103C>T 0.927516 0.9812 Uncertain 8_12600622_C->T 8 12600622 12600622 C T snp 1682.77 1/1 99 60 0 60 1.0 intronic rs7837242 LONRF1 AU NM_152271 exon11 c.20068-50C>T 0.836262 0.9365 0.842034 0.8685 0.9491 Uncertain 8_12870139_G->C 8 12870139 12870139 G C snp 882.77 0/1 99 79 42 37 0.47 UTR5 rs12156247 KIAA1456 AU 0.294529 0.2242 Uncertain 8_12870160_G->C 8 12870160 12870160 G C snp 1241.77 0/1 99 96 43 53 0.55 UTR5 rs2460338 KIAA1456 AU 0.327276 0.62 0.255616 0.2958 0.5929 Uncertain 8_12870438_C->G 8 12870438 12870438 C G snp 113.77 0/1 99 7 3 4 0.57 intronic rs2466264 KIAA1456 AU NM_020844 exon4 c.6655+72C>G 0.63778 0.7738 Uncertain 8_12878637_A->G 8 12878637 12878637 A G snp 4413.77 1/1 99 158 0 158 1.0 exonic rs528255 KIAA1456 AU nonsynonymous SNV NM_001099677 exon2 c.A71G p.H24R 0.997604 1 0.997434 0.9992 1 0.69 T 0.999 P -0.958 T 0.0 T 0.001 T Pathogenic 8_12878677_T->C 8 12878677 12878677 T C snp 1559.77 0/1 99 151 81 70 0.46 exonic rs622106 KIAA1456 AU synonymous SNV NM_001099677 exon2 c.T111C p.A37A 0.710264 0.7937 0.749221 0.7608 0.7627 Uncertain 8_12878807_T->G 8 12878807 12878807 T G snp 2458.77 0/1 99 221 115 106 0.48 exonic rs3739310 KIAA1456 AU nonsynonymous SNV NM_001099677 exon2 c.T241G p.C81G 0.64996 0.7798 0.672542 0.7095 0.7549 0.44 T 0.0 P -0.954 T 0.0 T 0.0 T Pathogenic 8_12879062_T->C 8 12879062 12879062 T C snp 3189.78 0/1 99 250 127 123 0.49 exonic rs503550 KIAA1456 AU synonymous SNV NM_001099677 exon2 c.T496C p.L166L 0.711462 0.7937 0.749833 0.7609 0.7617 Uncertain 8_12879099_G->A 8 12879099 12879099 G A snp 3350.77 0/1 99 250 124 126 0.5 exonic rs502882 KIAA1456 AU nonsynonymous SNV NM_001099677 exon2 c.G533A p.G178E 0.711462 0.7937 0.749664 0.7610 0.7618 1 T 0.000 P -1.011 T 0.0 T 0.0 T Pathogenic 8_12879198_A->T 8 12879198 12879198 A T snp 2492.77 0/1 99 243 142 101 0.42 exonic rs34995506 KIAA1456 AU nonsynonymous SNV NM_001099677 exon2 c.A632T p.H211L 0.195288 0.1885 0.163922 0.1649 0.2149 0.4 T 0.0 P -0.959 T 0.148 T 0.018 T Pathogenic 8_12879334_T->C 8 12879334 12879334 T C snp 3555.77 0/1 99 249 106 143 0.57 exonic rs608909 KIAA1456 AU synonymous SNV NM_001099677 exon2 c.T768C p.V256V 0.709065 0.7937 0.748296 0.7614 0.7644 Uncertain 8_12879539_A->G 8 12879539 12879539 A G snp 1846.77 0/1 99 127 57 70 0.55 exonic rs608052 KIAA1456 AU nonsynonymous SNV NM_001099677 exon2 c.A973G p.R325G 0.704673 0.7946 0.739889 0.7632 0.7615 0.5 T 0.0 P -1.015 T 0.0 T 0.0 T Pathogenic 8_12879600_C->T 8 12879600 12879600 C T snp 1880.77 1/1 99 58 0 58 1.0 UTR3 rs498852 KIAA1456 AU 0.997604 1 0.997310 0.9991 1 Uncertain 8_12888743_A->G 8 12888743 12888743 A G snp 1914.77 0/1 99 202 116 86 0.43 intergenic rs13281744 KIAA1456 AU 0.279952 0.2232 0.4374 0.3358 0.17 T 0.0 P -0.928 T 0.099 T 0.019 T Uncertain 8_12888908_T->G 8 12888908 12888908 T G snp 4843.77 1/1 99 179 1 178 0.99 intergenic rs7826836 KIAA1456 AU 0.671126 0.8512 0.6926 0.8881 1 T 0.000 P -0.962 T 0.005 T 0.015 T Uncertain 8_12888997_T->C 8 12888997 12888997 T C snp 3119.77 1/1 99 101 0 101 1.0 intergenic rs573652 KIAA1456 AU 0.942292 0.9683 0.9773 0.9884 Uncertain 8_12943691_C->T 8 12943691 12943691 C T snp 225.84 1/1 18 8 0 8 1.0 intronic rs621554 DLC1 AU NM_001164271 exon2 c.479-107C>T 0.501797 0.3333 Uncertain 8_12948951_A->G 8 12948951 12948951 A G snp 1869.77 1/1 99 63 0 63 1.0 intronic rs609020 DLC1 AU NM_001164271 exon5 c.5622+10A>G 0.571486 0.3581 0.611103 0.5562 0.3975 Uncertain 8_12950110_G->A 8 12950110 12950110 G A snp 1142.77 1/1 84 38 0 38 1.0 intronic rs7829535 DLC1 AU NM_001164271 exon6 c.6801-10G>A 0.336861 0.2768 0.411502 0.4475 0.3200 Uncertain 8_12952175_A->- 8 12952175 12952175 A - indel 2162.73 1/1 99 75 0 75 1.0 intronic rs550432604 DLC1 AU NM_001164271 exon7 c.8948-92delA 0.862819 0.9524 Uncertain 8_12952230_C->T 8 12952230 12952230 C T snp 6178.77 1/1 99 220 0 220 1.0 intronic rs658948 DLC1 AU NM_001164271 exon7 c.8948-37C>T 0.47504 0.2956 0.522682 0.5287 0.3408 Uncertain 8_12957475_C->T 8 12957475 12957475 C T snp 7265.77 1/1 99 250 0 250 1.0 exonic rs532841 DLC1 AU nonsynonymous SNV NM_182643 exon9 c.G2371A p.V791M 0.496605 0.3363 0.525219 0.4935 0.3833 0.18 T 0.0 P -0.963 T 0.0 T 0.001 T Pathogenic 8_12960281_T->C 8 12960281 12960281 T C snp 2919.77 1/1 99 111 0 111 1.0 intronic rs2280335 DLC1 AU NM_001164271 exon11 c.16979-17T>C 0.304712 0.2718 0.368292 0.4335 0.3177 Uncertain 8_12972946_C->G 8 12972946 12972946 C G snp 143.03 1/1 12 5 0 5 1.0 intronic rs35858677 DLC1 AU NM_001164271 exon13 c.29775-148C>G 0.335264 0.2798 Uncertain 8_12972972_-->T 8 12972972 12972972 - T indel 278.73 1/1 36 12 0 12 1.0 intronic rs145012061 DLC1 AU NM_001164271 exon13 c.29775-122insT Uncertain 8_12973078_T->C 8 12973078 12973078 T C snp 3762.77 1/1 99 144 0 144 1.0 intronic rs34462909 DLC1 AU NM_001164271 exon13 c.29775-16T>C 0.394569 0.3363 0.430494 0.4850 0.3682 Uncertain 8_13072177_C->T 8 13072177 13072177 C T snp 3245.77 1/1 99 120 0 120 1.0 intronic rs3739300 DLC1 AU NM_006094 exon14 c.47490+81368C>T 0.659944 0.8542 0.584038 0.5495 0.8500 Uncertain 8_13162946_A->G 8 13162946 13162946 A G snp 426.77 1/1 33 12 0 12 1.0 intronic rs17128724 DLC1 AU NM_024767 exon1 c.78+135A>G 0.142572 0.3859 Uncertain 8_13258936_T->A 8 13258936 13258936 T A snp 221.84 1/1 18 7 0 7 1.0 intronic rs289583 DLC1 AU NM_024767 exon3 c.96245-42T>A 0.995208 1 0.994003 0.9979 1 Uncertain 8_13356424_G->T 8 13356424 13356424 G T snp 415.77 0/1 99 19 5 14 0.74 intronic rs3736135 DLC1 AU NM_024767 exon4 c.193824-133G>T 0.817292 0.6141 Uncertain 8_13356802_G->A 8 13356802 13356802 G A snp 3336.77 0/1 99 250 119 131 0.52 exonic rs3816747 DLC1 AU nonsynonymous SNV NM_182643 exon2 c.C779T p.T260I 0.815096 0.6131 0.910118 0.8777 0.6019 0.21 T 0.0 P -0.942 T 0.0 T 0.0 T Pathogenic 8_13356818_T->C 8 13356818 13356818 T C snp 7538.77 1/1 99 247 0 247 1.0 exonic rs11203494 DLC1 AU nonsynonymous SNV NM_182643 exon2 c.A763G p.N255D 0.958067 0.999 0.946102 0.9673 0.9994 1 T 0.0 P -0.998 T 0.0 T 0.0 T Pathogenic 8_13356819_T->G 8 13356819 13356819 T G snp 3324.77 0/1 99 248 119 129 0.52 exonic rs11203495 DLC1 AU nonsynonymous SNV NM_182643 exon2 c.A762C p.Q254H 0.758387 0.6121 0.864370 0.8558 0.6015 0.24 T 0.0 P -1.018 T 0.005 T 0.007 T Pathogenic 8_13357587_G->A 8 13357587 13357587 G A snp 1250.77 0/1 99 81 30 51 0.63 UTR5 rs1383942 DLC1 AU 0.741613 0.6111 0.837075 0.8562 0.6009 Uncertain 8_13424385_C->A 8 13424385 13424385 C A snp 260.8 1/1 21 7 0 7 1.0 UTR5 rs10095899 C8orf48 AU 0.985024 1 Uncertain 8_13424583_C->T 8 13424583 13424583 C T snp 4676.77 1/1 99 172 0 172 1.0 exonic rs13273355 C8orf48 AU nonsynonymous SNV NM_001007090 exon1 c.C83T p.S28F 0.812101 0.9673 0.791064 0.7942 0.9629 0.75 T 0.0 P -1.009 T 0.0 T 0.0 T Pathogenic 8_13424866_G->C 8 13424866 13424866 G C snp 3028.77 0/1 99 249 121 128 0.51 exonic rs75484711 C8orf48 AU synonymous SNV NM_001007090 exon1 c.G366C p.L122L 0.0307508 0.126 0.0055 0.1404 Uncertain 8_13425353_T->A 8 13425353 13425353 T A snp 4536.77 1/1 99 160 0 160 1.0 exonic rs11203497 C8orf48 AU nonsynonymous SNV NM_001007090 exon1 c.T853A p.L285M 0.985024 1 0.984669 0.9950 1 1 T 0.0 P -0.953 T 0.0 T 0.002 T Pathogenic 8_13959749_A->G 8 13959749 13959749 A G snp 483.77 1/1 36 14 0 14 1.0 intronic rs1973167 SGCZ AU NM_139167 exon2 c.11933-135A>G 0.31849 0.0942 Uncertain 8_13965582_T->- 8 13965582 13965582 T - indel 2240.73 1/1 99 56 0 56 1.0 intronic rs11336839 SGCZ AU NM_139167 exon3 c.17720-89delT 0.945088 1 Uncertain 8_14021957_A->C 8 14021957 14021957 A C snp 224.77 0/1 92 10 3 7 0.7 intronic rs12541913 SGCZ AU NM_139167 exon4 c.74137-131A>C 0.0559105 0.0298 Uncertain 8_14022296_A->T 8 14022296 14022296 A T snp 504.77 0/1 99 43 24 19 0.44 intronic rs6993740 SGCZ AU NM_139167 exon4 c.74260+85A>T 0.173722 0.0595 Uncertain 8_14094993_-->AAC 8 14094993 14094993 - AAC indel 2296.73 0/1 99 116 63 53 0.46 intronic rs111507147 SGCZ AU NM_139167 exon5 c.147149-107insAAC 0.0131789 0.0228 Uncertain 8_14095199_T->C 8 14095199 14095199 T C snp 1259.77 0/1 99 122 72 50 0.41 intronic rs13269000 SGCZ AU NM_139167 exon5 c.147237+11T>C 0.155351 0.1429 0.252653 0.2600 0.1671 Uncertain 8_14095250_A->T 8 14095250 14095250 A T snp 1121.77 1/1 81 34 0 34 1.0 intronic rs1478030 SGCZ AU NM_139167 exon5 c.147237+62A>T 0.883786 0.9504 Uncertain 8_14095252_A->G 8 14095252 14095252 A G snp 440.77 0/1 99 33 16 17 0.52 intronic rs188948767 SGCZ AU NM_139167 exon5 c.147237+64A>G 0.0061901 0.0308 Uncertain 8_15508200_T->C 8 15508200 15508200 T C snp 1091.77 0/1 99 89 45 44 0.49 splicing rs1035972 TUSC3 AR NM_006765 exon3 c.110266-5T>C 0.293131 0.4276 0.307166 0.3380 0.4255 Pathogenic 8_15556360_-->TT 8 15556360 15556360 - TT indel 239.73 0/1 62 33 3 30 0.91 intronic rs572239797 TUSC3 AR NM_006765 exon6 c.133406+25015insTT 0.200879 0.2173 Uncertain 8_15590866_T->G 8 15590866 15590866 T G snp 111.77 0/1 99 12 4 8 0.67 intronic rs2111752 TUSC3 AR NM_006765 exon7 c.190299+2628T>G 0.347644 0.2431 0.3747 0.2312 Uncertain 8_15606182_G->A 8 15606182 15606182 G A snp 1551.77 0/1 99 163 97 66 0.4 intronic rs7820648 TUSC3 AR NM_006765 exon9 c.208035+208G>A 0.553914 0.621 0.525985 0.5292 0.6385 Uncertain 8_15978063_C->T 8 15978063 15978063 C T snp 3057.77 1/1 99 111 0 111 1.0 exonic rs4338104 MSR1 AU,AD synonymous SNV NM_138715 exon9 c.G1086A p.R362R 0.997404 1 0.997463 0.9992 1 Uncertain 8_16012648_G->C 8 16012648 16012648 G C snp 1021.77 0/1 99 78 33 45 0.58 exonic rs2229388 MSR1 AU,AD nonsynonymous SNV NM_138715 exon6 c.C823G p.P275A 0.165535 0.3413 0.069748 0.1138 0.3454 0.06 T 0.990 P -1.617 T 1.0 D 0.999 D ID=CM100500;DIS=Chronic obstructive pulmonary disease, in smokers, association with;TAG=DFP;PUB=20081102 DFP Pathogenic 8_16035302_T->A 8 16035302 16035302 T A snp 427.77 0/1 99 51 35 16 0.31 intronic rs414580 MSR1 AU,AD NM_138716 exon8 c.67801-92T>A 0.355232 0.5516 Uncertain 8_16043667_C->T 8 16043667 16043667 C T snp 1470.77 0/1 99 166 93 73 0.44 intronic rs435815 MSR1 AU,AD NM_138716 exon9 c.82513-6439C>T 0.398163 0.5397 0.2588 0.5859 0.000 P Uncertain 8_16043686_G->C 8 16043686 16043686 G C snp 1545.77 0/1 99 171 95 76 0.44 intronic rs76917531 MSR1 AU,AD NM_138716 exon9 c.82513-6420G>C 0.142572 0.3264 0.1226 0.2879 0 D 0.0 P -1.075 T 0.003 T 0.001 T Uncertain 8_16043913_G->A 8 16043913 16043913 G A snp 136.77 0/1 99 12 7 5 0.42 intronic rs370067 MSR1 AU,AD NM_138716 exon9 c.82513-6193G>A 0.309305 0.4325 Uncertain 8_16043927_A->G 8 16043927 16043927 A G snp 74.77 0/1 99 7 4 3 0.43 intronic rs442677 MSR1 AU,AD NM_138716 exon9 c.82513-6179A>G 0.309904 0.4325 Uncertain 8_16850416_A->G 8 16850416 16850416 A G snp 303.78 1/1 24 8 0 8 1.0 UTR3 rs2640901 FGF20 AR 0.953474 0.999 Uncertain 8_16850498_C->G 8 16850498 16850498 C G snp 955.77 0/1 99 95 56 39 0.41 UTR3 rs1721100 FGF20 AR 0.574481 0.5149 Uncertain 8_16859398_C->G 8 16859398 16859398 C G snp 1184.77 1/1 87 42 0 42 1.0 exonic rs10448135 FGF20 AR synonymous SNV NM_019851 exon1 c.G144C p.A48A 0.882987 0.997 0.7892 0.9917 Uncertain 8_16885076_C->G 8 16885076 16885076 C G snp 241.77 0/1 99 19 7 12 0.63 exonic rs141378607 MICU3 AU synonymous SNV NM_181723 exon1 c.C288G p.T96T 0.0447284 0.0357 0.2222 . Uncertain 8_16907125_G->A 8 16907125 16907125 G A snp 1369.77 0/1 99 152 88 64 0.42 intronic rs2014286 MICU3 AU NM_181723 exon2 c.36804-14467G>A 0.405152 0.5863 0.301535 0.2367 0.6033 Uncertain 8_16907317_T->A 8 16907317 16907317 T A snp 796.77 0/1 99 67 37 30 0.45 intronic rs2014301 MICU3 AU NM_181723 exon2 c.36804-14275T>A 0.201877 0.37 Uncertain 8_16921890_G->C 8 16921890 16921890 G C snp 35.77 0/1 64 4 2 2 0.5 intronic rs2285260 MICU3 AU NM_181723 exon2 c.36958+144G>C 0.132588 0.379 Uncertain 8_16927250_A->C 8 16927250 16927250 A C snp 172.77 0/1 99 29 19 10 0.34 intronic rs17686794 MICU3 AU NM_181723 exon3 c.42440+22A>C 0.114018 0.255 0.061275 0.0993 0.2708 Uncertain 8_16935234_G->C 8 16935234 16935234 G C snp 450.77 0/1 99 49 28 21 0.43 intronic rs10098337 MICU3 AU NM_181723 exon4 c.50503-57G>C 0.363219 0.4742 0.283648 Uncertain 8_16939284_G->A 8 16939284 16939284 G A snp 383.77 0/1 99 29 13 16 0.55 intronic rs12056715 MICU3 AU NM_181723 exon5 c.54461+35G>A 0.20607 0.377 0.125794 0.1237 0.3881 0.0 P -0.932 T Uncertain 8_16939299_-->A 8 16939299 16939299 - A indel 808.73 0/1 99 36 15 21 0.58 intronic rs58848674 MICU3 AU NM_181723 exon5 c.54461+50insA 0.215855 0.377 0.154257 0.1261 0.3843 Uncertain 8_16942611_A->G 8 16942611 16942611 A G snp 144.77 0/1 61 7 2 5 0.71 intronic rs2285263 MICU3 AU NM_181723 exon6 c.57956-133A>G 0.201677 0.378 Uncertain 8_16942837_C->T 8 16942837 16942837 C T snp 3334.77 1/1 99 125 0 125 1.0 intronic rs2285264 MICU3 AU NM_181723 exon6 c.58039+10C>T 0.703075 0.8105 0.599493 0.5733 0.8191 Uncertain 8_16942849_C->T 8 16942849 16942849 C T snp 1225.77 0/1 99 104 51 53 0.51 intronic rs2285265 MICU3 AU NM_181723 exon6 c.58039+22C>T 0.485423 0.4355 0.426419 0.4229 0.4397 Uncertain 8_17042129_-->CT 8 17042129 17042129 - CT indel 915.73 1/1 60 20 0 20 1.0 intronic rs35115266 ZDHHC2 AU NM_016353 exon2 c.28065-168insCT 0.983626 0.9901 Uncertain 8_17067379_T->C 8 17067379 17067379 T C snp 1103.77 0/1 99 59 19 40 0.68 intronic rs77836263 ZDHHC2 AU NM_016353 exon9 c.53208-61T>C 0.0071885 0.0327 Uncertain 8_17067641_C->G 8 17067641 17067641 C G snp 286.77 0/1 99 25 15 10 0.4 intronic rs117135534 ZDHHC2 AU NM_016353 exon9 c.53335+74C>G 0.0103834 0.0337 Uncertain 8_17074640_C->G 8 17074640 17074640 C G snp 399.77 0/1 99 46 29 17 0.37 intronic rs3213600 ZDHHC2 AU NM_016353 exon12 c.60448-40C>G 0.314097 0.379 0.254685 0.2990 0.4184 Uncertain 8_17092164_G->T 8 17092164 17092164 G T snp 6820.77 1/1 99 250 0 250 1.0 intronic rs2959606 CNOT7 AU NM_013354 exon3 c.3996-60G>T 0.960064 1 0.9869 1 0.0 P Uncertain 8_17100357_C->T 8 17100357 17100357 C T snp 393.77 1/1 30 19 0 19 1.0 intronic rs2904701 CNOT7 AU NM_013354 exon5 c.12272-143C>T 0.998802 1 Uncertain 8_17100456_-->A 8 17100456 17100456 - A indel 152.73 0/1 99 35 13 22 0.63 intronic rs150002154 CNOT7 AU NM_013354 exon5 c.12272-44insA 0.381989 0.494 0.3356 0.4663 Uncertain 8_17102408_G->C 8 17102408 17102408 G C snp 400.77 0/1 99 36 22 14 0.39 intronic rs78185233 CNOT7 AU NM_013354 exon6 c.14316-136G>C 0.0529153 0.0595 Uncertain 8_17104886_G->A 8 17104886 17104886 G A snp 260.77 0/1 99 22 11 11 0.5 intronic rs145945235 VPS37A AR NM_001145152 exon1 c.125+8G>A 0.0111821 0.0526 0.000082 0.0026 0.0707 Uncertain 8_17105226_T->C 8 17105226 17105226 T C snp 1668.77 0/1 99 139 68 71 0.51 intronic rs3763556 VPS37A AR NM_001145152 exon1 c.125+348T>C 0.0103834 0.0327 0.0044 0.0208 0 D 1.000 N -1.034 T Uncertain 8_17125768_T->C 8 17125768 17125768 T C snp 31.77 0/1 60 12 8 4 0.33 exonic rs11555738 VPS37A AR synonymous SNV NM_152415 exon3 c.T202C p.L68L 0.352436 0.5893 0.188634 0.2348 0.6020 Uncertain 8_17142065_C->T 8 17142065 17142065 C T snp 596.77 0/1 99 54 25 29 0.54 exonic rs2285269 VPS37A AR synonymous SNV NM_152415 exon10 c.C1053T p.D351D 0.349641 0.5853 0.188067 0.2301 0.5979 Uncertain 8_17143830_G->C 8 17143830 17143830 G C snp 1191.77 0/1 99 111 60 51 0.46 intronic rs3793427 VPS37A AR NM_001145152 exon10 c.39102-25G>C 0.51857 0.6915 0.360910 0.4189 0.7300 Uncertain 8_17144020_C->A 8 17144020 17144020 C A snp 566.77 0/1 99 40 22 18 0.45 intronic rs3793428 VPS37A AR NM_001145152 exon10 c.39183+84C>A 0.409744 0.5813 Uncertain 8_17157259_G->A 8 17157259 17157259 G A snp 900.77 1/1 66 27 0 27 1.0 UTR3 rs6992513 MTMR7 AU 0.773962 0.7659 Uncertain 8_17159812_G->A 8 17159812 17159812 G A snp 4065.77 1/1 99 150 0 150 1.0 intronic rs6587028 MTMR7 AU NM_004686 exon2 c.2419+23G>A 0.767971 0.7669 0.734815 0.7053 0.7752 Uncertain 8_17159960_T->C 8 17159960 17159960 T C snp 185.77 0/1 99 12 6 6 0.5 intronic rs7007043 MTMR7 AU NM_004686 exon2 c.2419+171T>C 0.49401 0.5992 Uncertain 8_17166765_A->G 8 17166765 17166765 A G snp 1287.77 1/1 93 39 0 39 1.0 intronic rs1548353 MTMR7 AU NM_004686 exon5 c.9415-20A>G 0.492013 0.3274 0.598462 0.5339 0.3618 Uncertain 8_17170645_T->A 8 17170645 17170645 T A snp 1494.77 1/1 99 47 0 47 1.0 intronic rs4921749 MTMR7 AU NM_004686 exon7 c.13430-155T>A 0.7498 0.7609 Uncertain 8_17170687_T->C 8 17170687 17170687 T C snp 980.77 0/1 99 96 54 42 0.44 intronic rs10113185 MTMR7 AU NM_004686 exon7 c.13430-113T>C 0.606829 0.7202 Uncertain 8_17170740_C->G 8 17170740 17170740 C G snp 1562.77 0/1 99 140 77 63 0.45 intronic rs10096063 MTMR7 AU NM_004686 exon7 c.13430-60C>G 0.229832 0.2639 Uncertain 8_17188911_A->G 8 17188911 17188911 A G snp 783.77 0/1 99 55 27 28 0.51 intronic rs3213603 MTMR7 AU NM_004686 exon8 c.31421+120A>G 0.45008 0.4692 Uncertain 8_17206588_G->A 8 17206588 17206588 G A snp 1326.77 0/1 99 120 64 56 0.47 exonic rs2285291 MTMR7 AU synonymous SNV NM_004686 exon5 c.C471T p.V157V 0.113818 0.2966 0.039828 0.0915 0.3192 Uncertain 8_17206787_A->G 8 17206787 17206787 A G snp 267.8 1/1 21 7 0 7 1.0 intronic rs28652774 MTMR7 AU NM_004686 exon10 c.49220+197A>G 0.362021 0.7083 Uncertain 8_17218629_G->A 8 17218629 17218629 G A snp 1612.77 0/1 99 148 75 73 0.49 exonic rs1024355 MTMR7 AU synonymous SNV NM_004686 exon4 c.C465T p.Y155Y 0.195687 0.0655 0.221667 0.1404 0.0818 Uncertain 8_17228405_-->G 8 17228405 17228405 - G indel 202.73 0/1 99 12 5 7 0.58 intronic rs144317932 MTMR7 AU NM_004686 exon12 c.71175-140insG 0.0289537 0.0645 Uncertain 8_17230579_G->A 8 17230579 17230579 G A snp 3577.77 1/1 99 130 0 130 1.0 intronic rs35105012 MTMR7 AU NM_004686 exon13 c.73256-47G>A 0.459465 0.7153 0.282254 0.3002 0.7057 Uncertain 8_17230644_G->C 8 17230644 17230644 G C snp 3882.77 1/1 99 143 0 143 1.0 exonic rs7388581 MTMR7 AU nonsynonymous SNV NM_004686 exon2 c.C130G p.P44A 0.990016 1 0.989543 0.9972 1 1 T 0.000 P -0.947 T 0.0 T 0.0 T Pathogenic 8_17270640_A->C 8 17270640 17270640 A C snp 1195.77 1/1 87 37 0 37 1.0 intronic rs13268193 MTMR7 AU NM_004686 exon14 c.113407-137A>C 0.27496 0.3254 Uncertain 8_17270719_C->T 8 17270719 17270719 C T snp 2376.77 1/1 99 89 0 89 1.0 intronic rs2073693 MTMR7 AU NM_004686 exon14 c.113407-58C>T 0.0892572 0.3046 0.026281 Uncertain 8_17270759_C->T 8 17270759 17270759 C T snp 2732.77 1/1 99 105 2 103 0.98 intronic rs78197154 MTMR7 AU NM_004686 exon14 c.113407-18C>T 0.0890575 0.3046 0.023260 0.0440 0.3173 Uncertain 8_17270770_T->C 8 17270770 17270770 T C snp 2952.77 1/1 99 115 2 113 0.98 intronic rs75437306 MTMR7 AU NM_004686 exon14 c.113407-7T>C 0.263578 0.3234 0.241289 0.3062 0.3295 Uncertain 8_17270787_A->G 8 17270787 17270787 A G snp 2875.77 1/1 99 107 0 107 1.0 exonic rs67972978 MTMR7 AU synonymous SNV NM_004686 exon1 c.T15C p.R5R 0.990815 1 0.988543 0.9947 1 Uncertain 8_17270881_C->G 8 17270881 17270881 C G snp 1389.77 1/1 61 51 2 49 0.96 UTR5 rs117148497 MTMR7 AU 0.0870607 0.3085 Uncertain 8_17396231_G->A 8 17396231 17396231 G A snp 233.77 0/1 99 13 5 8 0.62 intronic rs28616245 SLC7A2 AU 0.163139 0.1131 Uncertain 8_17396415_G->C 8 17396415 17396415 G C snp 2058.77 0/1 99 189 98 91 0.48 intronic rs13259978 SLC7A2 AU NM_001164771 exon1 c.98-16G>C 0.193091 0.1141 0.231244 0.1952 0.1132 0.09 T 0.0 P -1.067 T 0.0 T 0.0 T Uncertain 8_17400719_A->G 8 17400719 17400719 A G snp 175.77 0/1 99 10 4 6 0.6 intronic rs75275939 SLC7A2 AU NM_001164771 exon2 c.4493-107A>G 0.0752796 0.0972 Uncertain 8_17401365_CTT->- 8 17401365 17401367 CTT - indel 223.73 0/1 99 18 9 9 0.5 intronic rs10654963 SLC7A2 AU NM_001164771 exon2 c.4891+141_4891+143delCTT 0.730431 0.8899 Uncertain 8_17401382_C->G 8 17401382 17401382 C G snp 148.77 0/1 99 10 5 5 0.5 intronic rs75593100 SLC7A2 AU NM_001164771 exon2 c.4891+158C>G 0.0974441 0.1042 Uncertain 8_17401878_G->A 8 17401878 17401878 G A snp 1613.77 0/1 99 119 55 64 0.54 intronic rs2517252 SLC7A2 AU NM_001164771 exon3 c.5626-81G>A 0.732827 0.8889 Uncertain 8_17406183_A->G 8 17406183 17406183 A G snp 2093.77 0/1 99 157 71 86 0.55 splicing rs737039 SLC7A2 AU NM_001164771 exon4 c.9853-3A>G 0.520567 0.5942 0.558358 0.5912 0.6002 Pathogenic 8_17406368_T->- 8 17406368 17406368 T - indel 1140.73 1/1 99 64 0 64 1.0 intronic rs11373918 SLC7A2 AU NM_001164771 exon4 c.10019+16delT 0.889577 0.9315 0.9453 0.9889 Uncertain 8_17406413_G->A 8 17406413 17406413 G A snp 355.77 0/1 99 23 10 13 0.57 intronic rs2245183 SLC7A2 AU NM_001164771 exon4 c.10019+61G>A 0.146565 0.3155 Uncertain 8_17412333_G->A 8 17412333 17412333 G A snp 174.77 0/1 99 17 11 6 0.35 intronic rs2301539 SLC7A2 AU NM_003046 exon7 c.16121-121G>A 0.206669 0.3214 Uncertain 8_17415862_A->C 8 17415862 17415862 A C snp 1779.77 0/1 99 160 79 81 0.51 exonic rs74514270 SLC7A2 AU synonymous SNV NM_001008539 exon8 c.A1254C p.T418T 0.0710863 0.122 0.021605 0.0484 0.1291 Uncertain 8_17421279_T->C 8 17421279 17421279 T C snp 5443.77 1/1 99 191 0 191 1.0 intronic rs2588173 SLC7A2 AU NM_001164771 exon11 c.24887+59T>C 0.866014 0.9494 Uncertain 8_17434641_G->C 8 17434641 17434641 G C snp 113.77 0/1 99 10 5 5 0.5 splicing rs2705051 PDGFRL AU 0.767372 0.8313 Pathogenic 8_17485833_A->G 8 17485833 17485833 A G snp 112.03 1/1 12 4 0 4 1.0 intronic rs2237838 PDGFRL AU NM_006207 exon5 c.51234-162A>G 0.491214 0.6438 Uncertain 8_17486282_T->C 8 17486282 17486282 T C snp 3275.77 1/1 99 90 0 90 1.0 exonic rs2229084 PDGFRL AU synonymous SNV NM_006207 exon5 c.T792C p.Y264Y 0.988019 1 0.986006 0.9962 1 Uncertain 8_17491730_T->C 8 17491730 17491730 T C snp 132.77 0/1 99 20 15 5 0.25 intronic rs7006613 PDGFRL AU NM_006207 exon6 c.56961+8T>C 0.428514 0.3452 0.319545 0.2714 0.3148 Uncertain 8_17500119_C->T 8 17500119 17500119 C T snp 724.77 1/1 54 23 0 23 1.0 splicing rs17633132 PDGFRL AU NM_006207 exon7 c.65360-2C>T 0.1248 0.131 0.082116 0.1030 0.1316 ID=CR130135;DIS=Behcet disease, association with;TAG=DFP;PUB=22926996 DFP Pathogenic 8_17532573_T->C 8 17532573 17532573 T C snp 264.77 0/1 99 17 8 9 0.53 intronic rs2269698 MTUS1 AU NM_001166393 exon8 c.29260-121T>C 0.633387 0.8085 Uncertain 8_17532619_C->T 8 17532619 17532619 C T snp 460.77 0/1 99 50 31 19 0.38 intronic rs2269699 MTUS1 AU NM_001166393 exon8 c.29260-75C>T 0.632788 0.8085 Uncertain 8_17533568_A->T 8 17533568 17533568 A T snp 101.77 0/1 99 12 8 4 0.33 intronic rs2301541 MTUS1 AU NM_001166393 exon8 c.29327+807A>T 0.615016 0.8085 Uncertain 8_17533633_A->G 8 17533633 17533633 A G snp 717.77 0/1 99 61 33 28 0.46 intronic rs2301542 MTUS1 AU NM_001166393 exon8 c.29327+872A>G 0.633986 0.8095 Uncertain 8_17539225_T->C 8 17539225 17539225 T C snp 1980.77 0/1 99 194 108 86 0.44 intronic rs17633543 MTUS1 AU NM_001166393 exon9 c.38402-2611T>C 0.119409 0.251 Uncertain 8_17539389_C->T 8 17539389 17539389 C T snp 99.28 1/1 9 3 0 3 1.0 intronic rs2410499 MTUS1 AU NM_001166393 exon9 c.38402-2447C>T 0.758786 0.9613 Uncertain 8_17541691_G->A 8 17541691 17541691 G A snp 54.74 1/1 6 2 0 2 1.0 intronic rs2410501 MTUS1 AU NM_001166393 exon9 c.38402-145G>A 0.155551 0.1627 Uncertain 8_17541784_C->T 8 17541784 17541784 C T snp 458.77 0/1 99 47 29 18 0.38 intronic rs2898459 MTUS1 AU NM_001166393 exon9 c.38402-52C>T 0.126997 0.1419 Uncertain 8_17555029_G->C 8 17555029 17555029 G C snp 769.77 1/1 57 26 0 26 1.0 UTR5 rs437548 MTUS1 AU 0.308506 0.4583 Uncertain 8_17611886_G->A 8 17611886 17611886 G A snp 2866.77 0/1 99 250 126 124 0.5 exonic rs2979788 MTUS1 AU synonymous SNV NM_001001924 exon2 c.C1431T p.P477P 0.667732 0.5942 0.721755 0.7946 0.6387 Uncertain 8_17611959_T->G 8 17611959 17611959 T G snp 3095.77 0/1 99 250 118 132 0.53 exonic rs17690844 MTUS1 AU nonsynonymous SNV NM_001001924 exon2 c.A1358C p.K453T 0.101837 0.2093 0.068644 0.0470 0.1860 0.33 T 0.0 P -0.970 T 0.041 T 0.018 T Pathogenic 8_17612456_C->T 8 17612456 17612456 C T snp 3462.77 0/1 99 250 120 130 0.52 exonic rs11203910 MTUS1 AU synonymous SNV NM_001001924 exon2 c.G861A p.K287K 0.858227 0.8075 0.886691 0.9224 0.8169 Uncertain 8_17612639_T->C 8 17612639 17612639 T C snp 2533.77 0/1 99 249 139 110 0.44 exonic rs209568 MTUS1 AU synonymous SNV NM_001001924 exon2 c.A678G p.E226E 0.294728 0.4464 0.167138 0.2707 0.4695 Uncertain 8_17612875_A->G 8 17612875 17612875 A G snp 2744.77 0/1 99 241 127 114 0.47 exonic rs3739407 MTUS1 AU nonsynonymous SNV NM_001001924 exon2 c.T442C p.C148R 0.710264 0.6756 0.727718 0.7749 0.6743 0.000 P -0.980 T 0.899 T 0.667 P Pathogenic 8_17725917_A->T 8 17725917 17725917 A T snp 46.78 0/1 27 3 1 2 0.67 intronic rs2653415 FGL1 AU NM_004467 exon2 c.3956-139A>T 0.127596 0.0645 Uncertain 8_17726019_A->G 8 17726019 17726019 A G snp 1154.77 0/1 99 105 55 50 0.48 intronic rs10112643 FGL1 AU NM_004467 exon2 c.3956-37A>G 0.395966 0.4306 0.542826 0.5552 0.4183 Uncertain 8_17726416_T->A 8 17726416 17726416 T A snp 623.77 0/1 99 53 23 30 0.57 intronic rs3213604 FGL1 AU NM_004467 exon3 c.4324-8T>A 0.0451278 0.0575 0.045994 0.0472 0.0779 Uncertain 8_17731961_G->A 8 17731961 17731961 G A snp 2075.77 0/1 99 221 127 94 0.43 exonic rs2653406 FGL1 AU nonsynonymous SNV NM_004467 exon4 c.C314T p.P105L 0.153954 0.1161 0.137167 0.1145 0.1350 0.48 T 0.998 P -1.070 T 0.071 T 0.037 T Pathogenic 8_17732084_G->C 8 17732084 17732084 G C snp 1849.77 1/1 99 60 0 60 1.0 intronic rs2517294 FGL1 AU NM_004467 exon5 c.9930+54G>C 0.628395 0.5516 Uncertain 8_17732085_C->A 8 17732085 17732085 C A snp 1755.77 1/1 99 59 0 59 1.0 intronic rs2653404 FGL1 AU NM_004467 exon5 c.9930+55C>A 0.627396 0.5476 Uncertain 8_17739538_T->C 8 17739538 17739538 T C snp 1925.77 0/1 99 196 108 88 0.45 exonic rs3739406 FGL1 AU nonsynonymous SNV NM_004467 exon3 c.A214G p.I72V 0.412141 0.4345 0.555359 0.5552 0.4245 0.51 T 0.0 P -0.926 T 0.003 T 0.003 T Pathogenic 8_17739730_C->T 8 17739730 17739730 C T snp 215.77 0/1 99 11 4 7 0.64 intronic rs3739405 FGL1 AU NM_004467 exon6 c.17588+42C>T 0.047524 0.0556 0.048439 0.0479 0.0759 Uncertain 8_17742929_A->G 8 17742929 17742929 A G snp 582.77 0/1 99 58 32 26 0.45 intronic rs2073562 FGL1 AU NM_004467 exon7 c.20900-71A>G 0.388978 0.4286 Uncertain 8_17743020_G->A 8 17743020 17743020 G A snp 3989.77 1/1 99 155 0 155 1.0 exonic rs484373 FGL1 AU nonsynonymous SNV NM_004467 exon2 c.C44T p.T15I 0.649161 0.501 0.808550 0.7074 0.5123 0.52 T 0.0 P -0.963 T 0.0 T 0.0 T Pathogenic 8_17743256_G->C 8 17743256 17743256 G C snp 313.77 0/1 99 24 10 14 0.58 intronic rs369898 FGL1 AU NM_004467 exon7 c.20980+176G>C 0.593051 0.4425 Uncertain 8_17753657_G->A 8 17753657 17753657 G A snp 1081.77 0/1 99 100 49 51 0.51 upstream rs500282 FGL1 AU 0.522963 0.4444 0.5636 0.4495 Uncertain 8_17753873_C->T 8 17753873 17753873 C T snp 337.77 0/1 99 37 20 17 0.46 upstream rs3896063 FGL1 AU 0.52476 0.4454 Uncertain 8_17793084_A->G 8 17793084 17793084 A G snp 4579.77 1/1 99 148 0 148 1.0 intronic rs916550 PCM1 AU 0.244609 0.4067 0.219993 0.2230 0.4460 Uncertain 8_17794792_G->A 8 17794792 17794792 G A snp 1385.77 0/1 99 134 72 62 0.46 exonic rs17691680 PCM1 AU synonymous SNV NM_006197 exon4 c.G246A p.T82T 0.028155 0.0496 0.028302 0.0403 0.0715 Uncertain 8_17796226_T->C 8 17796226 17796226 T C snp 1262.77 1/1 93 37 0 37 1.0 intronic rs2285301 PCM1 AU NM_006197 exon5 c.3129-22T>C 0.153754 0.3899 0.123670 0.1558 0.3961 Uncertain 8_17796382_A->G 8 17796382 17796382 A G snp 5349.77 1/1 99 189 0 189 1.0 exonic rs412750 PCM1 AU nonsynonymous SNV NM_006197 exon5 c.A476G p.N159S 0.690495 0.62 0.813858 0.7324 0.6123 1 T 1.000 P -0.976 T 0.0 T 0.0 T Pathogenic 8_17796383_C->T 8 17796383 17796383 C T snp 5277.77 1/1 99 190 1 189 0.99 exonic rs454755 PCM1 AU synonymous SNV NM_006197 exon5 c.C477T p.N159N 0.690495 0.62 0.813858 0.7324 0.6121 Uncertain 8_17797409_A->G 8 17797409 17797409 A G snp 423.77 1/1 33 11 0 11 1.0 intronic rs2285303 PCM1 AU NM_006197 exon6 c.4251+39A>G 0.560503 0.5565 0.748531 0.6330 0.6161 Uncertain 8_17814087_G->T 8 17814087 17814087 G T snp 76.77 0/1 99 9 5 4 0.44 intronic rs2285306 PCM1 AU NM_006197 exon11 c.20993-25G>T 0.236422 0.3621 0.195712 0.2306 0.4190 Uncertain 8_17814915_A->G 8 17814915 17814915 A G snp 3154.77 1/1 99 119 0 119 1.0 exonic rs208753 PCM1 AU nonsynonymous SNV NM_006197 exon12 c.A1789G p.M597V 0.692891 0.63 0.815035 0.7362 0.6401 0.29 T 1.000 P -1.018 T 0.0 T 0.002 T Pathogenic 8_17817553_G->T 8 17817553 17817553 G T snp 1505.77 0/1 99 162 95 67 0.41 exonic rs17635381 PCM1 AU nonsynonymous SNV NM_006197 exon14 c.G2071T p.A691S 0.144369 0.3661 0.110018 0.1559 0.3847 0.35 T 1.0 P -0.881 T 0.72 T 0.423 P Pathogenic 8_17819572_C->T 8 17819572 17819572 C T snp 2942.77 0/1 99 250 127 123 0.49 exonic rs3780103 PCM1 AU synonymous SNV NM_006197 exon16 c.C2352T p.P784P 0.30631 0.1667 0.495025 0.4864 0.1888 Uncertain 8_17819761_A->G 8 17819761 17819761 A G snp 353.77 0/1 99 21 9 12 0.57 intronic rs208060 PCM1 AU NM_006197 exon16 c.26564+78A>G 0.411342 0.248 Uncertain 8_17819812_T->C 8 17819812 17819812 T C snp 43.77 0/1 66 4 2 2 0.5 intronic rs11203929 PCM1 AU NM_006197 exon16 c.26564+129T>C 0.309505 0.1716 Uncertain 8_17820714_A->T 8 17820714 17820714 A T snp 1060.77 0/1 99 88 44 44 0.5 exonic rs6991775 PCM1 AU synonymous SNV NM_006197 exon17 c.A2568T p.L856L 0.21845 0.37 0.192855 0.1700 0.3704 Uncertain 8_17827260_-->C 8 17827260 17827260 - C indel 4909.73 1/1 99 119 1 118 0.99 splicing rs3214087 PCM1 AU NM_006197 exon22 c.34138+3insC 0.698682 0.63 0.823740 0.7369 0.6377 Pathogenic 8_17827315_A->G 8 17827315 17827315 A G snp 761.77 0/1 99 46 21 25 0.54 intronic rs2285308 PCM1 AU NM_006197 exon22 c.34138+58A>G 0.263578 0.372 Uncertain 8_17829756_-->AA 8 17829756 17829756 - AA indel 350.77 1/1 21 7 0 7 1.0 intronic rs34990698 PCM1 AU NM_006197 exon23 c.36718-81insAA Uncertain 8_17840627_A->G 8 17840627 17840627 A G snp 462.77 0/1 99 54 36 18 0.33 intronic rs3850748 PCM1 AU NM_006197 exon25 c.49836-2328A>G 0.219449 0.378 Uncertain 8_17847505_A->G 8 17847505 17847505 A G snp 681.77 0/1 99 66 33 33 0.5 intronic rs2301546 PCM1 AU NM_006197 exon27 c.54369+17A>G 0.139377 0.374 0.083549 0.1304 0.4094 Uncertain 8_17851248_C->A 8 17851248 17851248 C A snp 40.77 0/1 69 7 4 3 0.43 intronic rs429633 PCM1 AU NM_006197 exon29 c.58009+120C>A 0.460863 0.2292 Uncertain 8_17854779_C->A 8 17854779 17854779 C A snp 993.77 0/1 99 123 74 49 0.4 intronic rs35935919 PCM1 AU NM_006197 exon29 c.58009+3651C>A 0.160743 0.3631 Uncertain 8_17868029_C->A 8 17868029 17868029 C A snp 644.77 0/1 99 39 14 25 0.64 intronic rs2467556 PCM1 AU NM_006197 exon32 c.74998-88C>A 0.634385 0.5873 Uncertain 8_17868245_C->A 8 17868245 17868245 C A snp 239.77 0/1 97 12 4 8 0.67 intronic rs2467555 PCM1 AU NM_006197 exon32 c.75058+68C>A 0.64377 0.5863 0.789312 Uncertain 8_17871256_A->T 8 17871256 17871256 A T snp 31.77 0/1 60 8 5 3 0.38 intronic rs10103879 PCM1 AU NM_006197 exon35 c.78353-216A>T 0.313498 0.1815 Uncertain 8_17871598_T->A 8 17871598 17871598 T A snp 63.77 0/1 92 10 6 4 0.4 intronic rs13266287 PCM1 AU NM_006197 exon35 c.78426+53T>A 0.465056 0.2361 Uncertain 8_17885091_T->C 8 17885091 17885091 T C snp 226.77 0/1 99 23 12 11 0.48 intronic rs3213605 PCM1 AU NM_006197 exon39 c.92026-54T>C 0.308307 0.1776 0.494735 Uncertain 8_17891178_C->T 8 17891178 17891178 C T snp 157.77 0/1 99 15 7 8 0.53 intergenic rs6586680 PCM1 AU 0.274561 0.1776 Uncertain 8_17914919_A->T 8 17914919 17914919 A T snp 241.77 0/1 99 28 17 11 0.39 UTR3 rs417661 ASAH1 AR 0.364217 0.3442 Uncertain 8_17915126_C->T 8 17915126 17915126 C T snp 493.77 0/1 99 60 37 23 0.38 exonic rs17636067 ASAH1 AR nonsynonymous SNV NM_177924 exon14 c.G1105A p.V369I 0.0091853 0.0238 0.000615 0.0077 0.0331 0.07 T 1 N -0.513 T 0.983 D 0.802 D Pathogenic 8_17916224_A->C 8 17916224 17916224 A C snp 114.77 0/1 99 9 5 4 0.44 intronic rs420610 ASAH1 AR NM_004315 exon2 c.1301-119A>C 0.602835 0.5238 Uncertain 8_17916553_C->T 8 17916553 17916553 C T snp 3770.77 1/1 99 135 0 135 1.0 intronic rs7465164 ASAH1 AR NM_004315 exon2 c.1358+153C>T 0.840655 0.8631 Uncertain 8_17916599_T->- 8 17916599 17916599 T - indel 1468.73 1/1 99 46 0 46 1.0 intronic rs33985304 ASAH1 AR NM_004315 exon2 c.1358+199delT 0.840256 0.8621 Uncertain 8_17916752_G->A 8 17916752 17916752 G A snp 77.77 0/1 99 6 3 3 0.5 intronic rs10107973 ASAH1 AR NM_004315 exon3 c.1807-97G>A 0.158147 0.2808 Uncertain 8_17918934_A->G 8 17918934 17918934 A G snp 4350.77 1/1 99 169 0 169 1.0 exonic rs10103355 ASAH1 AR nonsynonymous SNV NM_177924 exon10 c.T737C p.V246A 0.85024 0.8641 0.866600 0.9431 0.8697 1 T 0.000 P -0.943 T 0.0 T 0.001 T Pathogenic 8_17920807_A->G 8 17920807 17920807 A G snp 1600.77 0/1 99 91 33 58 0.64 intronic rs7824644 ASAH1 AR NM_004315 exon8 c.5697+68A>G 0.317891 0.2044 0.507665 Uncertain 8_17920820_A->T 8 17920820 17920820 A T snp 1253.77 0/1 99 70 25 45 0.64 intronic rs7824650 ASAH1 AR NM_004315 exon8 c.5697+81A>T 0.273962 0.2044 Uncertain 8_17921810_G->C 8 17921810 17921810 G C snp 448.77 0/1 99 29 11 18 0.62 intronic rs4921565 ASAH1 AR NM_004315 exon9 c.6923-155G>C 0.238219 0.2867 Uncertain 8_17921921_T->C 8 17921921 17921921 T C snp 1383.77 1/1 99 50 0 50 1.0 intronic rs2073574 ASAH1 AR NM_004315 exon9 c.6923-44T>C 0.566294 0.4921 0.651886 0.6009 0.5332 Uncertain 8_17942229_C->T 8 17942229 17942229 C T snp 2063.77 0/1 99 192 97 95 0.49 upstream rs151100700 ASAH1 AR 0.00159744 0.0079 0.000384 0.0010 0.0116 0.05 T 1.000 N -0.953 T 0.007 T 0.001 T Uncertain 8_18074536_G->A 8 18074536 18074536 G A snp 648.77 0/1 99 66 38 28 0.42 intronic rs7387461 NAT1 AU NM_001291962 exon4 c.101+33G>A 0.890575 0.7808 0.932107 0.9385 0.7792 Uncertain 8_18077007_G->C 8 18077007 18077007 G C snp 2424.77 1/1 99 90 0 90 1.0 intronic rs10106882 NAT1 AU NM_001291962 exon5 c.2596+9G>C 0.999401 1 0.9998 1 Uncertain 8_18257686_A->T 8 18257686 18257686 A T snp 1667.77 0/1 99 228 149 79 0.35 exonic NAT2 AR nonsynonymous SNV NM_000015 exon2 c.A173T p.H58L 0.01 T 0.998 D -0.873 T 0.003 T 0.017 T Pathogenic 8_18257795_C->T 8 18257795 18257795 C T snp 4890.77 1/1 99 172 2 170 0.99 exonic rs1041983 NAT2 AR synonymous SNV NM_000015 exon2 c.C282T p.Y94Y 0.397364 0.4395 0.357374 0.3449 0.4112 ID=CM001251;DIS=Slow acetylation;TAG=DFP;PUB=9110365 DFP Uncertain 8_18258103_G->A 8 18258103 18258103 G A snp 1959.77 0/1 99 203 119 84 0.41 exonic rs1799930 NAT2 AR nonsynonymous SNV NM_000015 exon2 c.G590A p.R197Q 0.264976 0.256 0.282024 0.2773 0.2501 0.08 T 0.998 P -0.935 T 1.0 D 0.991 D CLINSIG=drug-response;CLNDBN=Slow_acetylator_due_to_N-acetyltransferase_enzyme_variant;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000000758.1;CLNDSDB=MedGen:OMIM:SNOMED_CT;CLNDSDBID=C1827377:243400:425079005 ID=CM910270;DIS=Atopic asthma, association with;TAG=DFP;PUB=19608015 DFP Pathogenic 8_18258316_G->A 8 18258316 18258316 G A snp 2036.77 1/1 99 69 0 69 1.0 exonic rs1208 NAT2 AR nonsynonymous SNV NM_000015 exon2 c.G803A p.R268K 0.677117 0.9603 0.584205 0.6172 0.9598 1 T 0.0 P -0.997 T 0.0 T 0.002 T CLINSIG=drug-response;CLNDBN=Slow_acetylator_due_to_N-acetyltransferase_enzyme_variant;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000000760.1;CLNDSDB=MedGen:OMIM:SNOMED_CT;CLNDSDBID=C1827377:243400:425079005 ID=CM910271;DIS=Atopic asthma, association with;TAG=DFP;PUB=19608015 DFP Pathogenic 8_18258370_G->A 8 18258370 18258370 G A snp 310.77 0/1 99 25 11 14 0.56 exonic rs1799931 NAT2 AR nonsynonymous SNV NM_000015 exon2 c.G857A p.G286E 0.0772764 0.1796 0.022942 0.0553 0.1546 0.99 T 0.0 P -0.925 T 0.317 T 0.094 T CLINSIG=drug-response;CLNDBN=Slow_acetylator_due_to_N-acetyltransferase_enzyme_variant;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000000761.1;CLNDSDB=MedGen:OMIM:SNOMED_CT;CLNDSDBID=C1827377:243400:425079005 ID=CM900170;DIS=Slow acetylation;TAG=DFP;PUB=1968463 DFP Pathogenic 8_18393159_-->T 8 18393159 18393159 - T indel 95.87 1/1 15 5 0 5 1.0 UTR3 rs397780471 PSD3 AU 0.557907 0.7153 Uncertain 8_18413875_A->G 8 18413875 18413875 A G snp 1886.77 1/1 99 61 0 61 1.0 intronic rs2260920 PSD3 AU NM_015310 exon2 c.20610+13A>G 0.991813 1 0.992849 0.9982 1 Uncertain 8_18415081_G->T 8 18415081 18415081 G T snp 692.77 1/1 51 25 0 25 1.0 intronic rs2634454 PSD3 AU NM_015310 exon2 c.20610+1219G>T 0.991414 0.999 Uncertain 8_18429869_G->A 8 18429869 18429869 G A snp 56.74 1/1 6 2 0 2 1.0 intronic rs923391 PSD3 AU NM_015310 exon3 c.36785-168G>A 0.642572 0.7768 Uncertain 8_18430201_T->A 8 18430201 18430201 T A snp 2093.77 1/1 99 73 0 73 1.0 intronic rs2277137 PSD3 AU NM_015310 exon3 c.36930+19T>A 0.208067 0.4474 0.135783 0.1906 0.4407 Uncertain 8_18432578_C->G 8 18432578 18432578 C G snp 746.77 0/1 99 56 26 30 0.54 intronic rs2248559 PSD3 AU NM_015310 exon4 c.39385-59C>G 0.920128 0.8829 Uncertain 8_18457957_A->G 8 18457957 18457957 A G snp 1962.77 1/1 99 73 0 73 1.0 intronic rs2932001 PSD3 AU NM_015310 exon5 c.64692+13A>G 0.85643 0.9355 0.788482 0.8923 0.9302 Uncertain 8_18458015_C->G 8 18458015 18458015 C G snp 735.77 0/1 99 49 19 30 0.61 intronic rs77583765 PSD3 AU NM_015310 exon5 c.64692+71C>G 0.0421326 0.1111 Uncertain 8_18490356_T->C 8 18490356 18490356 T C snp 1897.77 1/1 99 64 0 64 1.0 intronic rs2306824 PSD3 AU NM_015310 exon6 c.97064+40T>C 0.133187 0.1766 0.112769 0.1024 0.2315 Uncertain 8_18490411_T->C 8 18490411 18490411 T C snp 265.77 0/1 99 14 6 8 0.57 intronic rs576653533 PSD3 AU NM_015310 exon6 c.97064+95T>C 0.00119808 0.006 Uncertain 8_18513220_C->A 8 18513220 18513220 C A snp 2892.77 0/1 99 250 135 115 0.46 intronic rs10087662 PSD3 AU NM_015310 exon7 c.119943+25C>A 0.152556 0.1429 0.152314 0.1091 0.1624 Uncertain 8_18620570_T->C 8 18620570 18620570 T C snp 3284.77 0/1 99 250 117 133 0.53 intronic rs9792382 PSD3 AU NM_015310 exon8 c.229706-2388T>C 0.347843 0.4782 0.1478 0.5152 Uncertain 8_18656805_G->A 8 18656805 18656805 G A snp 1876.77 0/1 99 171 85 86 0.5 exonic rs2306825 PSD3 AU synonymous SNV NM_015310 exon8 c.C2082T p.H694H 0.215056 0.3046 0.172536 0.1772 0.3012 1.0 P Uncertain 8_18656889_G->- 8 18656889 18656889 G - indel 1506.73 0/1 99 126 77 49 0.39 intronic rs3214999 PSD3 AU NM_015310 exon9 c.263611+26delG 0.416134 0.3869 0.366693 0.3481 0.3780 Uncertain 8_18658750_A->G 8 18658750 18658750 A G snp 278.77 0/1 99 18 6 12 0.67 intronic rs1386692 PSD3 AU NM_015310 exon10 c.265527-29A>G 0.585264 0.6835 0.502702 0.5185 0.7134 Uncertain 8_18658929_C->A 8 18658929 18658929 C A snp 118.77 0/1 99 12 7 5 0.42 intronic rs1386691 PSD3 AU NM_015310 exon10 c.265640+37C>A 0.834065 0.744 0.889582 0.8859 0.7827 Uncertain 8_18659765_A->G 8 18659765 18659765 A G snp 319.77 0/1 99 43 25 18 0.42 intronic rs2638646 PSD3 AU NM_015310 exon10 c.265640+873A>G 0.840855 0.755 Uncertain 8_18659780_T->C 8 18659780 18659780 T C snp 448.77 0/1 99 51 27 24 0.47 intronic rs2632848 PSD3 AU NM_015310 exon10 c.265640+888T>C 0.573283 0.6835 Uncertain 8_18659883_A->- 8 18659883 18659883 A - indel 926.73 0/1 99 71 25 46 0.65 intronic rs3837206 PSD3 AU NM_015310 exon10 c.265640+991delA 0.584864 0.6935 0.5344 0.7049 Uncertain 8_18659928_A->G 8 18659928 18659928 A G snp 601.77 0/1 99 47 18 29 0.62 intronic rs2632847 PSD3 AU NM_015310 exon10 c.265640+1036A>G 0.83766 0.755 Uncertain 8_18660007_A->G 8 18660007 18660007 A G snp 203.77 0/1 60 10 3 7 0.7 intronic rs2638647 PSD3 AU NM_015310 exon10 c.265640+1115A>G 0.838259 0.755 Uncertain 8_18661933_A->- 8 18661933 18661933 A - indel 401.73 0/1 99 26 7 19 0.73 intronic rs537332770 PSD3 AU NM_015310 exon11 c.268779-98delA 0.545128 0.6101 Uncertain 8_18662204_C->A 8 18662204 18662204 C A snp 2477.77 0/1 99 230 124 106 0.46 intronic rs73666724 PSD3 AU NM_015310 exon12 c.268961-9C>A 0.166733 0.2708 0.116254 0.1386 0.2680 Uncertain 8_18729309_A->G 8 18729309 18729309 A G snp 2640.77 0/1 99 217 102 115 0.53 exonic PSD3 AU synonymous SNV NM_015310 exon3 c.T1065C p.S355S Uncertain 8_18729459_T->C 8 18729459 18729459 T C snp 2692.77 0/1 99 238 121 117 0.49 exonic rs13273954 PSD3 AU synonymous SNV NM_015310 exon3 c.A915G p.E305E 0.294129 0.3095 0.211623 0.2175 0.3147 Uncertain 8_18729496_G->A 8 18729496 18729496 G A snp 2478.77 0/1 99 233 123 110 0.47 exonic rs13263453 PSD3 AU nonsynonymous SNV NM_015310 exon3 c.C878T p.P293L 0.210863 0.3065 0.138072 0.1459 0.3118 0.21 T 0.0 P -0.910 T 0.0 T 0.0 T Pathogenic 8_18729817_G->A 8 18729817 18729817 G A snp 6767.77 1/1 99 241 2 239 0.99 exonic rs7016219 PSD3 AU nonsynonymous SNV NM_015310 exon3 c.C557T p.T186M 0.852835 0.9772 0.413935 0.7560 0.9854 0.21 T 0.0 P -0.977 T 0.071 T 0.022 T Pathogenic 8_18729818_T->G 8 18729818 18729818 T G snp 6840.77 1/1 99 241 4 237 0.98 exonic rs7003060 PSD3 AU nonsynonymous SNV NM_015310 exon3 c.A556C p.T186P 0.855631 0.9782 0.255966 0.7560 0.9854 0.33 T 0.0 P -0.981 T 0.0 T 0.0 T Pathogenic 8_18793697_T->A 8 18793697 18793697 T A snp 1960.77 1/1 99 69 0 69 1.0 intronic rs10092681 PSD3 AU NM_015310 exon15 c.400400+45T>A 0.982228 1 0.974601 0.9936 1 Uncertain 8_18871110_G->A 8 18871110 18871110 G A snp 1652.77 0/1 99 136 62 74 0.54 UTR5 rs143508562 PSD3 AU 0.0692891 0.0496 0.087985 0.1684 0.0676 Uncertain 8_18941575_G->A 8 18941575 18941575 G A snp 230.77 0/1 97 10 3 7 0.7 intergenic rs9657494 PSD3 AU 0.249002 0.1101 Uncertain 8_19252189_G->A 8 19252189 19252189 G A snp 542.77 0/1 99 65 43 22 0.34 UTR3 rs1344254 SH2D4A AU 0.102835 0.1528 0.073900 0.1120 0.1453 Uncertain 8_19277735_A->G 8 19277735 19277735 A G snp 379.77 1/1 30 11 0 11 1.0 intronic rs7016592 CSGALNACT1 AU NM_018371 exon4 c.14560-115A>G 0.555911 0.8214 Uncertain 8_19277817_G->A 8 19277817 19277817 G A snp 1129.77 1/1 84 41 0 41 1.0 intronic rs6999786 CSGALNACT1 AU NM_018371 exon4 c.14560-33G>A 0.521166 0.8214 0.423881 0.5313 0.8236 Uncertain 8_19297583_A->G 8 19297583 19297583 A G snp 913.77 1/1 69 27 0 27 1.0 intronic rs13278459 CSGALNACT1 AU NM_018371 exon5 c.34152+141A>G 0.525759 0.8482 Uncertain 8_19315034_G->T 8 19315034 19315034 G T snp 180.9 1/1 15 5 0 5 1.0 intronic rs10888163 CSGALNACT1 AU NM_018371 exon6 c.52646-902G>T 0.496206 0.8562 0.5650 0.7727 Uncertain 8_19315845_C->T 8 19315845 19315845 C T snp 156.77 0/1 99 8 3 5 0.63 intronic rs17128441 CSGALNACT1 AU NM_018371 exon6 c.52646-91C>T 0.223043 0.4752 Uncertain 8_19316086_G->A 8 19316086 19316086 G A snp 6632.77 1/1 99 244 0 244 1.0 exonic rs12155539 CSGALNACT1 AU synonymous SNV NM_001130518 exon5 c.C702T p.H234H 0.458866 0.8581 0.313778 0.4217 0.8407 Uncertain 8_19362768_C->T 8 19362768 19362768 C T snp 7216.77 1/1 99 249 0 249 1.0 exonic rs7017776 CSGALNACT1 AU nonsynonymous SNV NM_001130518 exon4 c.G578A p.S193N 0.754792 0.8601 0.742196 0.7966 0.8532 0.89 T 0.000 P -0.974 T 0.0 T 0.002 T Pathogenic 8_19363425_C->T 8 19363425 19363425 C T snp 1244.77 1/1 93 35 0 35 1.0 UTR5 rs6984644 CSGALNACT1 AU 0.557109 0.8393 0.6373 0.8429 Uncertain 8_19456473_C->T 8 19456473 19456473 C T snp 2233.77 1/1 99 80 1 79 0.99 intronic rs4244454 CSGALNACT1 AU NM_018371 exon9 c.195991-2808C>T 0.895767 0.9921 Uncertain 8_19456538_G->A 8 19456538 19456538 G A snp 828.77 0/1 99 116 80 36 0.31 intronic rs35101845 CSGALNACT1 AU NM_018371 exon9 c.195991-2743G>A 0.141573 0.1458 Uncertain 8_19680736_T->C 8 19680736 19680736 T C snp 575.77 1/1 42 22 0 22 1.0 intronic rs12547934 INTS10 AU NM_018142 exon6 c.5763-75T>C 0.643371 0.6429 Uncertain 8_19680979_C->T 8 19680979 19680979 C T snp 641.77 1/1 48 20 0 20 1.0 intronic rs4464983 INTS10 AU NM_018142 exon6 c.5904+27C>T 0.641174 0.6448 0.643465 0.6111 0.6094 Uncertain 8_19681647_G->A 8 19681647 19681647 G A snp 594.77 1/1 45 15 0 15 1.0 intronic rs2410612 INTS10 AU NM_018142 exon7 c.6507+92G>A 0.640176 0.6558 Uncertain 8_19682545_A->G 8 19682545 19682545 A G snp 2441.77 1/1 99 81 0 81 1.0 intronic rs3816246 INTS10 AU NM_018142 exon8 c.7435+62A>G 0.697085 0.6567 Uncertain 8_19682592_A->G 8 19682592 19682592 A G snp 1189.77 1/1 87 39 0 39 1.0 intronic rs7018076 INTS10 AU NM_018142 exon8 c.7435+109A>G 0.697284 0.6567 Uncertain 8_19689633_T->C 8 19689633 19689633 T C snp 2204.77 1/1 99 82 0 82 1.0 intronic rs4434638 INTS10 AU NM_018142 exon11 c.14573+12T>C 0.886781 0.8581 0.896687 0.8738 0.8388 Uncertain 8_19689821_G->A 8 19689821 19689821 G A snp 182.9 1/1 15 6 0 6 1.0 intronic rs4615593 INTS10 AU NM_018142 exon11 c.14573+200G>A 0.624002 0.6548 Uncertain 8_19699191_G->T 8 19699191 19699191 G T snp 1950.77 1/1 99 69 0 69 1.0 intronic rs34564004 INTS10 AU NM_018142 exon14 c.25310-1167G>T 0.378994 0.4077 Uncertain 8_19699236_T->A 8 19699236 19699236 T A snp 2220.77 1/1 99 85 0 85 1.0 intronic rs35843228 INTS10 AU NM_018142 exon14 c.25310-1122T>A 0.307708 0.4067 Uncertain 8_19810787_C->A 8 19810787 19810787 C A snp 1156.77 0/1 99 120 69 51 0.42 intronic rs343 LPL AR,AD,AU NM_000237 exon4 c.13869-33C>A 0.102835 0.1647 0.071890 0.0965 0.1479 Uncertain 8_19811023_-->TG 8 19811023 19811023 - TG indel 263.73 0/1 99 27 13 14 0.52 intronic rs250 LPL AR,AD,AU NM_000237 exon4 c.13981+91insTG 0.233826 0.1726 Uncertain 8_19811897_C->G 8 19811897 19811897 C G snp 1662.77 0/1 99 126 60 66 0.52 intronic rs254 LPL AR,AD,AU NM_000237 exon5 c.14913+33C>G 0.206669 0.248 0.103491 0.1707 0.2241 Uncertain 8_19811901_T->C 8 19811901 19811901 T C snp 1589.77 0/1 99 122 59 63 0.52 intronic rs255 LPL AR,AD,AU NM_000237 exon5 c.14913+37T>C 0.20647 0.248 0.099339 0.1706 0.2243 Uncertain 8_19811967_C->T 8 19811967 19811967 C T snp 447.77 0/1 99 29 12 17 0.59 intronic rs256 LPL AR,AD,AU NM_000237 exon5 c.14913+103C>T 0.144169 0.245 Uncertain 8_19813180_G->A 8 19813180 19813180 G A snp 37.77 0/1 60 4 2 2 0.5 intronic rs264 LPL AR,AD,AU NM_000237 exon6 c.16400-171G>A 0.160144 0.2331 Uncertain 8_19813667_T->G 8 19813667 19813667 T G snp 639.77 0/1 99 33 11 22 0.67 intronic rs269 LPL AR,AD,AU NM_000237 exon6 c.16643+73T>G 0.277955 0.246 Uncertain 8_19813702_G->A 8 19813702 19813702 G A snp 331.77 0/1 99 15 5 10 0.67 intronic rs271 LPL AR,AD,AU NM_000237 exon6 c.16643+108G>A 0.141973 0.244 Uncertain 8_19816934_T->C 8 19816934 19816934 T C snp 615.77 0/1 99 48 24 24 0.5 intronic rs301 LPL AR,AD,AU NM_000237 exon7 c.19940+43T>C 0.381989 0.4911 0.341073 0.2566 0.2263 Uncertain 8_19819536_T->G 8 19819536 19819536 T G snp 1447.77 0/1 99 108 55 53 0.49 intronic rs327 LPL AR,AD,AU NM_000237 exon9 c.22674-89T>G 0.292532 0.2351 ID=CS099092;DIS=Lower triglyceride level, association with;TAG=DFP;PUB=NO ID DFP Uncertain 8_19819724_C->G 8 19819724 19819724 C G snp 2378.77 0/1 99 185 87 98 0.53 exonic rs328 LPL AR,AD,AU stopgain NM_000237 exon9 c.C1421G p.S474X 0.0924521 0.122 0.086345 0.0935 0.1139 0.947 P CLINSIG=non-pathogenic;CLNDBN=LIPOPROTEIN_LIPASE_POLYMORPHISM;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000001598.1;CLNDSDB=.;CLNDSDBID=. ID=CM900164;DIS=Lipoprotein lipase deficiency, association with;TAG=DFP;PUB=2216713 DFP Pathogenic 8_19822810_C->T 8 19822810 19822810 C T snp 1404.77 0/1 99 129 63 66 0.51 intronic rs11570891 LPL AR,AD,AU NM_000237 exon10 c.25869-10C>T 0.0930511 0.12 0.091727 0.0972 0.1136 Uncertain 8_20005075_A->G 8 20005075 20005075 A G snp 770.77 0/1 99 58 24 34 0.59 intronic rs17092097 SLC18A1 AU NM_001142324 exon3 c.1840-38A>G 0.113618 0.2232 0.063817 0.0425 0.1956 Uncertain 8_20005300_T->C 8 20005300 20005300 T C snp 236.77 0/1 99 15 6 9 0.6 intronic rs1018079 SLC18A1 AU NM_001142324 exon3 c.1960+67T>C 0.230631 0.1925 Uncertain 8_20005716_G->C 8 20005716 20005716 G C snp 441.77 1/1 33 14 0 14 1.0 intronic rs903997 SLC18A1 AU NM_001142324 exon4 c.2308+135G>C 0.742612 0.5883 Uncertain 8_20007101_CTCT->- 8 20007101 20007104 CTCT - indel 469.73 0/1 99 29 14 15 0.52 intronic rs540103324 SLC18A1 AU NM_001142324 exon5 c.3913-85_3913-82delCTCT Uncertain 8_20008164_C->T 8 20008164 20008164 C T snp 523.77 0/1 99 47 25 22 0.47 intronic rs2270649 SLC18A1 AU NM_001142324 exon6 c.4903-12C>T 0.0626997 0.1756 0.013917 0.0248 0.1618 Uncertain 8_20008206_G->A 8 20008206 20008206 G A snp 887.77 0/1 99 84 44 40 0.48 exonic rs2270648 SLC18A1 AU synonymous SNV NM_003053 exon11 c.C1065T p.L355L 0.0549121 0.2173 0.001615 0.0228 0.1876 Uncertain 8_20022694_G->A 8 20022694 20022694 G A snp 928.77 0/1 99 58 28 30 0.52 intronic rs3779670 SLC18A1 AU NM_001142324 exon7 c.19345+76G>A 0.203275 0.1607 Uncertain 8_20028464_G->A 8 20028464 20028464 G A snp 78.77 0/1 69 5 2 3 0.6 intronic rs11989477 SLC18A1 AU NM_001142324 exon8 c.25340-149G>A 0.214457 0.1667 Uncertain 8_20028830_T->C 8 20028830 20028830 T C snp 329.77 0/1 99 25 12 13 0.52 intronic rs17222134 SLC18A1 AU NM_001142324 exon9 c.25642-85T>C 0.214457 0.1667 Uncertain 8_20031998_C->G 8 20031998 20031998 C G snp 853.77 0/1 99 69 34 35 0.51 intronic rs17222113 SLC18A1 AU NM_001142324 exon11 c.28682+43C>G 0.00119808 0.006 0.0008 0.0089 Uncertain 8_20035809_G->A 8 20035809 20035809 G A snp 118.77 0/1 99 10 5 5 0.5 intronic rs1532446 SLC18A1 AU NM_001142324 exon12 c.32672-136G>A 0.416534 0.3115 Uncertain 8_20036018_-->AA 8 20036018 20036018 - AA indel 173.73 0/1 99 27 15 12 0.44 intronic rs201530602 SLC18A1 AU NM_001142324 exon12 c.32731+14insAA 0.190695 0.1518 0.3009 0.1945 Uncertain 8_20036043_C->A 8 20036043 20036043 C A snp 157.77 0/1 99 23 16 7 0.3 intronic rs1908809 SLC18A1 AU NM_001142324 exon12 c.32731+39C>A 0.415535 0.3115 0.502153 0.5208 0.3287 Uncertain 8_20036095_G->A 8 20036095 20036095 G A snp 114.77 0/1 99 9 5 4 0.44 intronic rs2279708 SLC18A1 AU NM_001142324 exon12 c.32731+91G>A 0.416933 0.3115 Uncertain 8_20036521_A->G 8 20036521 20036521 A G snp 306.77 0/1 99 20 9 11 0.55 intronic rs1390937 SLC18A1 AU NM_001142324 exon13 c.33358-110A>G 0.417133 0.3125 Uncertain 8_20036713_A->G 8 20036713 20036713 A G snp 4046.77 1/1 99 160 0 160 1.0 exonic rs1390938 SLC18A1 AU nonsynonymous SNV NM_003053 exon3 c.T407C p.I136T 0.744209 0.7113 0.811087 0.7268 0.7224 0.28 T 0.001 P -0.990 T 0.03 T 0.021 T ID=CM067794;DIS=Bipolar disorder, association with;TAG=DFP;PUB=16936705 DFP Pathogenic 8_20037017_T->C 8 20037017 20037017 T C snp 70.77 0/1 99 14 10 4 0.29 intronic rs2270638 SLC18A1 AU NM_001142324 exon13 c.33722+22T>C 0.222843 0.1667 0.303322 0.3181 0.1679 Uncertain 8_20038139_T->C 8 20038139 20038139 T C snp 81.78 0/1 24 5 2 3 0.6 intronic rs67679930 SLC18A1 AU NM_001142324 exon14 c.35078-212T>C 0.219249 0.1667 Uncertain 8_20038466_T->G 8 20038466 20038466 T G snp 1190.77 0/1 99 94 53 41 0.44 exonic rs2270641 SLC18A1 AU nonsynonymous SNV NM_003053 exon2 c.A10C p.T4P 0.246206 0.248 0.290333 0.3596 0.3023 0.28 T 0.0 P -0.908 T 0.167 T 0.029 T ID=CM057213;DIS=Schizophrenia, association with;TAG=DP;PUB=15961286 DP Pathogenic 8_20038590_G->T 8 20038590 20038590 G T snp 39.77 0/1 66 4 2 2 0.5 UTR5 rs2270642 SLC18A1 AU 0.21905 0.1667 Uncertain 8_20068163_T->G 8 20068163 20068163 T G snp 1818.77 1/1 99 67 0 67 1.0 splicing rs7460146 ATP6V1B2 AD NM_001693 exon5 c.13240+6T>G 0.985823 1 0.979702 0.9745 0.9999 Pathogenic 8_20068619_A->G 8 20068619 20068619 A G snp 555.77 0/1 99 50 26 24 0.48 intronic rs9325865 ATP6V1B2 AD NM_001693 exon6 c.13770-68A>G 0.430511 0.6538 Uncertain 8_20069789_G->C 8 20069789 20069789 G C snp 2757.77 0/1 99 202 89 113 0.56 intronic rs10156354 ATP6V1B2 AD NM_001693 exon8 c.14793+79G>C 0.268171 0.1597 Uncertain 8_20107143_A->G 8 20107143 20107143 A G snp 1100.77 1/1 81 36 0 36 1.0 UTR3 rs904003 LZTS1 AD 1 1 Uncertain 8_20110219_G->A 8 20110219 20110219 G A snp 267.8 1/1 21 7 0 7 1.0 intronic rs2645385 LZTS1 AD NM_021020 exon2 c.3060-73G>A 0.355831 0.4425 Uncertain 8_20110641_C->T 8 20110641 20110641 C T snp 5848.77 1/1 99 212 1 211 1.0 exonic rs2645386 LZTS1 AD synonymous SNV NM_021020 exon2 c.G801A p.E267E 0.358626 0.4623 0.365233 0.3499 0.4403 Uncertain 8_21550768_A->C 8 21550768 21550768 A C snp 4728.77 1/1 99 154 0 154 1.0 UTR3 rs15881 GFRA2 AU 0.539936 0.4782 0.535685 0.4951 0.5148 Uncertain 8_21550800_A->T 8 21550800 21550800 A T snp 6757.77 1/1 99 246 0 246 1.0 exonic rs1128397 GFRA2 AU nonsynonymous SNV NM_001165039 exon7 c.T986A p.L329Q 0.372005 0.4296 0.378045 0.3867 0.4475 0.06 T 0.963 P -0.931 T 0.997 D 0.879 D Pathogenic 8_21640374_C->A 8 21640374 21640374 C A snp 2239.77 0/1 99 188 92 96 0.51 exonic rs201830416 GFRA2 AU synonymous SNV NM_001495 exon2 c.G78T p.L26L Uncertain 8_21640595_G->A 8 21640595 21640595 G A snp 2688.77 0/1 99 244 127 117 0.48 intronic GFRA2 AU NM_001495 exon8 c.89622+184G>A Uncertain 8_21640671_A->G 8 21640671 21640671 A G snp 4119.77 1/1 99 135 1 134 0.99 intronic rs145570381 GFRA2 AU NM_001495 exon8 c.89622+260A>G Uncertain 8_21645753_G->C 8 21645753 21645753 G C snp 5158.77 1/1 99 192 0 192 1.0 UTR5 rs2279190 GFRA2 AU Uncertain 8_21767275_C->G 8 21767275 21767275 C G snp 1904.77 0/1 99 193 109 84 0.44 exonic rs2242240 DOK2 AU synonymous SNV NM_003974 exon5 c.G786C p.A262A 0.205871 0.3819 0.136496 0.1705 0.4117 Uncertain 8_21824547_A->G 8 21824547 21824547 A G snp 510.77 0/1 99 41 22 19 0.46 intronic rs4872191 XPO7 AU NM_015024 exon2 c.47233+33A>G 0.561302 0.4861 0.611165 0.5274 0.5270 Uncertain 8_21842023_T->G 8 21842023 21842023 T G snp 256.8 1/1 21 7 0 7 1.0 intronic rs1872220 XPO7 AU NM_015024 exon12 c.64875-133T>G 0.9998 1 Uncertain 8_21842024_T->A 8 21842024 21842024 T A snp 264.8 1/1 21 7 0 7 1.0 intronic rs1872221 XPO7 AU NM_015024 exon12 c.64875-132T>A 0.9998 1 Uncertain 8_21845428_T->C 8 21845428 21845428 T C snp 1806.77 0/1 99 130 56 74 0.57 intronic rs2306645 XPO7 AU NM_015024 exon15 c.68087+60T>C 0.56849 0.5238 0.589137 Uncertain 8_21846586_G->C 8 21846586 21846586 G C snp 1886.77 0/1 99 159 75 84 0.53 exonic rs2306646 XPO7 AU synonymous SNV NM_015024 exon16 c.G1860C p.L620L 0.579073 0.5238 0.608477 0.5356 0.5369 Uncertain 8_21861663_G->C 8 21861663 21861663 G C snp 192.77 0/1 99 12 5 7 0.58 intronic rs10866837 XPO7 AU NM_015024 exon27 c.84260+122G>C 0.564696 0.5248 Uncertain 8_21862551_A->G 8 21862551 21862551 A G snp 1065.77 0/1 99 88 42 46 0.52 exonic rs1058486 XPO7 AU synonymous SNV NM_015024 exon28 c.A3216G p.S1072S 0.577875 0.5268 0.611120 0.5342 0.5577 Uncertain 8_21890581_T->C 8 21890581 21890581 T C snp 2013.77 1/1 99 67 0 67 1.0 intronic rs1947985 NPM2 AU NM_182795 exon5 c.7881-59T>C 0.963059 1 Uncertain 8_21891939_G->A 8 21891939 21891939 G A snp 1716.77 1/1 99 59 0 59 1.0 intronic rs10089142 NPM2 AU NM_182795 exon7 c.9261-81G>A 0.786342 0.9196 0.723828 Uncertain 8_21891968_C->G 8 21891968 21891968 C G snp 2114.77 1/1 99 72 0 72 1.0 intronic rs4871915 NPM2 AU NM_182795 exon7 c.9261-52C>G 0.960863 0.9871 0.959264 Uncertain 8_21895146_A->G 8 21895146 21895146 A G snp 2902.77 1/1 99 107 0 107 1.0 downstream rs11992609 NPM2 AU 0.451278 0.4147 0.479247 0.5523 0.4357 Uncertain 8_21900757_A->G 8 21900757 21900757 A G snp 2033.77 0/1 99 200 110 90 0.45 intronic rs900779 FGF17 AD NM_003867 exon2 c.253+65A>G 0.508187 0.6349 0.417433 Uncertain 8_21904212_T->C 8 21904212 21904212 T C snp 1969.77 1/1 99 68 0 68 1.0 intronic rs1078363 FGF17 AD NM_003867 exon4 c.3705+68T>C 0.734425 0.7996 Uncertain 8_21924297_C->T 8 21924297 21924297 C T snp 277.8 1/1 21 12 0 12 1.0 UTR5 rs9657287 DMTN AU 0.952676 0.9901 Uncertain 8_21924743_G->A 8 21924743 21924743 G A snp 2608.77 1/1 99 91 0 91 1.0 intronic rs11135821 DMTN AU NM_001114136 exon3 c.284+73G>A 0.939297 0.9901 Uncertain 8_21924778_T->G 8 21924778 21924778 T G snp 1815.77 1/1 99 58 0 58 1.0 intronic rs11135822 DMTN AU NM_001114136 exon3 c.284+108T>G 0.974042 1 Uncertain 8_21924944_A->G 8 21924944 21924944 A G snp 3516.77 1/1 99 116 0 116 1.0 intronic rs11135823 DMTN AU NM_001114136 exon4 c.651-93A>G 0.973043 1 Uncertain 8_21925214_C->G 8 21925214 21925214 C G snp 2020.77 1/1 99 63 0 63 1.0 intronic rs6997244 DMTN AU NM_001114136 exon4 c.807+21C>G 0.780351 0.9772 0.751576 0.8123 0.9752 Uncertain 8_21927137_G->A 8 21927137 21927137 G A snp 6381.77 1/1 99 233 0 233 1.0 intronic rs12680100 DMTN AU NM_001114136 exon6 c.2643+108G>A 0.994808 1 Uncertain 8_21927211_C->G 8 21927211 21927211 C G snp 3392.77 1/1 99 98 0 98 1.0 intronic rs12681799 DMTN AU NM_001114136 exon7 c.3005-180C>G 0.894968 0.9861 Uncertain 8_21927460_C->G 8 21927460 21927460 C G snp 4651.77 1/1 99 169 0 169 1.0 intronic rs7386762 DMTN AU NM_001114136 exon7 c.3062+12C>G 0.710064 0.9762 0.673228 0.7792 0.9753 Uncertain 8_21930007_G->A 8 21930007 21930007 G A snp 599.77 1/1 45 21 0 21 1.0 intronic rs3824334 DMTN AU NM_001114136 exon9 c.5575+46G>A 0.759585 0.9762 0.768780 0.7884 0.9675 Uncertain 8_21930068_A->G 8 21930068 21930068 A G snp 174.9 1/1 15 6 0 6 1.0 intronic rs3824336 DMTN AU NM_001114136 exon9 c.5575+107A>G 0.974641 0.9901 Uncertain 8_21931171_AAAAAAAAAGAG->- 8 21931171 21931182 AAAAAAAAAGAG - indel 3180.74 1/1 99 37 0 37 1.0 intronic rs199820139 DMTN AU NM_001114136 exon10 c.6854-69_6854-58delAAAAAAAAAGAG 0.997005 1 Uncertain 8_21931487_A->T 8 21931487 21931487 A T snp 136.03 1/1 12 4 0 4 1.0 intronic rs4427168 DMTN AU NM_001114136 exon10 c.6960+141A>T 0.739018 0.9762 Uncertain 8_21937667_T->C 8 21937667 21937667 T C snp 6511.77 1/1 99 238 0 238 1.0 intronic rs6557781 DMTN AU NM_001114136 exon11 c.13304-23T>C 0.833267 0.9802 0.811549 0.8378 0.9779 Uncertain 8_21937870_G->A 8 21937870 21937870 G A snp 6174.77 1/1 99 220 1 219 1.0 intronic rs7835670 DMTN AU NM_001114136 exon12 c.13536-52G>A 0.785743 0.9762 0.782304 Uncertain 8_21939435_C->T 8 21939435 21939435 C T snp 4443.77 1/1 99 157 14 143 0.91 UTR3 rs6557782 DMTN AU 0.740016 0.9752 0.8050 0.9690 0 D 0.0 P -1.024 T Uncertain 8_21946664_C->T 8 21946664 21946664 C T snp 190.9 1/1 15 9 0 9 1.0 upstream rs7829160 FAM160B2 AU 0.992812 1 Uncertain 8_21952226_T->C 8 21952226 21952226 T C snp 2924.77 1/1 99 96 0 96 1.0 intronic rs1456 FAM160B2 AU NM_022749 exon2 c.5265+197T>C 0.401358 0.3899 Uncertain 8_21955116_C->T 8 21955116 21955116 C T snp 2073.77 1/1 99 74 0 74 1.0 exonic rs11352 FAM160B2 AU synonymous SNV NM_022749 exon4 c.C387T p.V129V 0.370407 0.374 0.385066 0.4195 0.3976 Uncertain 8_21956108_A->G 8 21956108 21956108 A G snp 4300.77 1/1 99 151 0 151 1.0 exonic rs35497596 FAM160B2 AU nonsynonymous SNV NM_022749 exon7 c.A943G p.T315A 0.378395 0.377 0.393763 0.4608 0.4365 0.34 T 0.0 P -0.994 T 0.001 T 0.013 T Pathogenic 8_21958333_T->C 8 21958333 21958333 T C snp 7310.77 1/1 99 250 0 250 1.0 intronic rs1552283 FAM160B2 AU NM_022749 exon12 c.11590-21T>C 0.990615 1 0.992526 0.9974 1 Uncertain 8_21958831_C->G 8 21958831 21958831 C G snp 254.8 1/1 21 8 0 8 1.0 intronic rs1968870 FAM160B2 AU NM_022749 exon13 c.12186-119C>G 0.867013 0.996 Uncertain 8_21958843_-->TCTT 8 21958843 21958843 - TCTT indel 706.73 1/1 33 11 0 11 1.0 intronic rs3063994 FAM160B2 AU NM_022749 exon13 c.12186-107insTCTT 0.865615 0.995 Uncertain 8_21959191_A->G 8 21959191 21959191 A G snp 3117.77 1/1 99 95 0 95 1.0 intronic rs6557810 FAM160B2 AU NM_022749 exon14 c.12454-27A>G 0.939297 1 0.944708 0.9844 0.9999 Uncertain 8_21959877_T->G 8 21959877 21959877 T G snp 1565.77 1/1 99 45 0 45 1.0 intronic rs7812435 FAM160B2 AU NM_022749 exon15 c.13062+51T>G 0.794129 0.9921 0.737859 Uncertain 8_21964802_C->T 8 21964802 21964802 C T snp 2741.77 1/1 99 93 0 93 1.0 UTR3 rs1552286 NUDT18 AU 0.920527 0.9921 0.873288 0.9048 0.9934 Uncertain 8_21966010_G->A 8 21966010 21966010 G A snp 99.28 1/1 9 3 0 3 1.0 intronic rs7825990 NUDT18 AU NM_024815 exon2 c.1047+153G>A 0.378195 0.373 Uncertain 8_21966701_C->- 8 21966701 21966701 C - indel 857.73 1/1 66 23 0 23 1.0 exonic;splicing rs57316099 NUDT18;NUDT18 UN frameshift deletion NM_024815 exon3 c.111delG p.R37fs 1 1 0.999507 1 1 Pathogenic 8_21966708_G->- 8 21966708 21966708 G - indel 825.73 1/1 66 23 0 23 1.0 splicing rs58343576 NUDT18 AU NM_024815 exon5 c.1898delG 1 1 0.999236 1 1 Pathogenic 8_21966891_-->CCGCTCCCAGTCCCTGCGGAGA 8 21966891 21966891 - CCGCTCCCAGTCCCTGCGGAGA indel 10338.7 1/1 99 50 0 50 1.0 UTR5 rs149177341 NUDT18 AU 0.3136 0.1667 Uncertain 8_21967075_G->T 8 21967075 21967075 G T snp 1715.77 1/1 99 65 0 65 1.0 upstream rs7830885 NUDT18 AU 0.446885 0.3839 0.6126 0.36 Uncertain 8_21967304_C->T 8 21967304 21967304 C T snp 5860.77 1/1 99 225 0 225 1.0 upstream rs7844781 NUDT18 AU 0.390575 0.379 0.4674 0.3472 Uncertain 8_21967309_A->C 8 21967309 21967309 A C snp 5828.77 1/1 99 217 0 217 1.0 upstream rs7817171 NUDT18 AU 0.390575 0.379 0.4683 0.3486 Uncertain 8_21973970_C->A 8 21973970 21973970 C A snp 1901.77 1/1 99 76 0 76 1.0 intronic rs6557829 HR AR,AD NM_005144 exon2 c.729+29C>A 0.336661 0.37 0.363615 0.3843 0.3779 Uncertain 8_21974032_A->C 8 21974032 21974032 A C snp 1290.77 1/1 96 49 1 48 0.98 intronic rs6557830 HR AR,AD NM_005144 exon2 c.729+91A>C 0.520966 0.3988 Uncertain 8_21976367_A->G 8 21976367 21976367 A G snp 56.74 1/1 6 2 0 2 1.0 intronic rs4872300 HR AR,AD NM_005144 exon4 c.3250-95A>G 0.999401 0.997 Uncertain 8_21976872_G->A 8 21976872 21976872 G A snp 1006.77 0/1 99 75 33 42 0.56 intronic rs12677278 HR AR,AD NM_005144 exon5 c.3584+76G>A 0.483227 0.3869 Uncertain 8_21978072_A->G 8 21978072 21978072 A G snp 678.77 0/1 99 55 27 28 0.51 intronic rs11135859 HR AR,AD NM_005144 exon8 c.4808+52A>G 0.575879 0.3988 0.661299 0.6111 0.3980 Uncertain 8_21978088_G->A 8 21978088 21978088 G A snp 542.77 0/1 99 45 22 23 0.51 intronic rs11779694 HR AR,AD NM_005144 exon8 c.4808+68G>A 0.329273 0.376 Uncertain 8_21984650_A->G 8 21984650 21984650 A G snp 1264.77 0/1 99 108 54 54 0.5 exonic rs12675745 HR AR,AD synonymous SNV NM_005144 exon3 c.T1305C p.F435F 0.579273 0.3948 0.651800 0.6123 0.3950 Uncertain 8_21984945_C->T 8 21984945 21984945 C T snp 1600.77 0/1 99 127 59 68 0.54 exonic rs12675375 HR AR,AD nonsynonymous SNV NM_005144 exon3 c.G1010A p.G337D 0.296326 0.372 0.280683 0.3205 0.3677 0.98 T 0.0 P -1.006 T 0.011 T 0.011 T Pathogenic 8_22014623_A->G 8 22014623 22014623 A G snp 2130.77 0/1 99 165 71 94 0.57 upstream rs74548386 LGI3 AU 0.0133786 0.0605 0.0015 0.0446 Uncertain 8_22020066_T->C 8 22020066 22020066 T C snp 1080.77 1/1 78 38 0 38 1.0 intronic rs13248346 SFTPC AD NM_001172410 exon2 c.745-20T>C 0.594848 0.7599 0.483102 0.4934 0.7811 Uncertain 8_22020294_C->A 8 22020294 22020294 C A snp 2300.77 1/1 99 85 0 85 1.0 intronic rs2070684 SFTPC AD NM_001172410 exon2 c.904+49C>A 0.676318 0.7123 0.763882 0.8208 0.7327 Uncertain 8_22021037_C->A 8 22021037 22021037 C A snp 1006.77 0/1 99 128 81 47 0.37 exonic rs4715 SFTPC AD nonsynonymous SNV NM_003018 exon4 c.C413A p.T138N 0.197484 0.2688 0.206766 0.2523 0.2825 0.09 T 0.000 P -1.143 T 0.949 T 0.761 D CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000151856.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 ID=CM040798;DIS=Perinatal respiratory disease, association with;TAG=DP;PUB=14735158 DP Pathogenic 8_22021207_C->T 8 22021207 22021207 C T snp 449.77 0/1 99 37 21 16 0.43 intronic rs2070685 SFTPC AD NM_001172410 exon4 c.1718+148C>T 0.147963 0.2887 Uncertain 8_22021517_G->A 8 22021517 22021517 G A snp 51.77 0/1 80 13 9 4 0.31 exonic rs1124 SFTPC AD nonsynonymous SNV NM_003018 exon5 c.G557A p.S186N 0.236022 0.3006 0.259390 0.3001 0.3265 0.38 T 0.086 P -1.060 T 0.004 T 0.004 T CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000151858.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 ID=CM040800;DIS=Perinatal respiratory disease, association with;TAG=DP;PUB=14735158 DP Pathogenic 8_22021739_-->A 8 22021739 22021739 - A indel 3394.73 0/1 99 171 78 93 0.54 intronic rs3216166 SFTPC AD NM_001172410 exon6 c.2437-39insA 0.334465 0.3006 0.3028 0.3185 Uncertain 8_22021883_G->A 8 22021883 22021883 G A snp 1210.77 0/1 99 116 65 51 0.44 UTR3 rs7592 SFTPC AD 0.334265 0.3006 0.3116 0.3105 Uncertain 8_22021934_G->A 8 22021934 22021934 G A snp 648.77 0/1 99 55 30 25 0.45 UTR3 rs1139547 SFTPC AD 0.241014 0.2996 0.3132 0.3643 Uncertain 8_22035248_-->G 8 22035248 22035248 - G indel 2847.73 0/1 99 180 69 111 0.62 intronic rs377158841 BMP1 AR NM_001199 exon6 c.12446-116insG 0.412939 0.6478 0.350719 0.4448 0.6311 Uncertain 8_22053123_T->C 8 22053123 22053123 T C snp 480.77 0/1 99 37 17 20 0.54 intronic rs4075478 BMP1 AR NM_001199 exon13 c.30182+23T>C 0.522963 0.5417 0.438979 0.4216 0.5520 Uncertain 8_22059606_G->A 8 22059606 22059606 G A snp 226.77 0/1 99 14 5 9 0.64 intronic rs13257482 BMP1 AR NM_006129 exon16 c.36523+165G>A 0.410942 0.2351 Uncertain 8_22066855_C->T 8 22066855 22066855 C T snp 816.77 1/1 60 22 0 22 1.0 intronic rs4463424 BMP1 AR NM_006129 exon19 c.44039-102C>T 0.997204 0.9861 Uncertain 8_22069018_C->T 8 22069018 22069018 C T snp 311.77 0/1 99 20 8 12 0.6 intronic rs11778448 BMP1 AR NM_006129 exon20 c.46188-88C>T 0.189696 0.0079 Uncertain 8_22069386_T->C 8 22069386 22069386 T C snp 59.74 1/1 6 3 0 3 1.0 UTR3 rs7001 BMP1 AR 0.133986 0.006 Uncertain 8_22079355_A->G 8 22079355 22079355 A G snp 2902.77 1/1 99 102 0 102 1.0 exonic rs4872422 PHYHIP AU synonymous SNV NM_014759 exon5 c.T504C p.S168S 0.997204 0.9861 0.999759 0.9994 0.9950 Uncertain 8_22081708_G->A 8 22081708 22081708 G A snp 3068.77 1/1 99 118 0 118 1.0 intronic rs4075536 PHYHIP AU NM_001099335 exon2 c.2873-30G>A 0.661741 0.8304 0.648916 0.7827 0.8404 Uncertain 8_22084503_C->T 8 22084503 22084503 C T snp 1258.77 0/1 99 102 48 54 0.53 exonic rs11547656 PHYHIP AU synonymous SNV NM_014759 exon3 c.G201A p.P67P 0.322484 0.2044 0.358687 0.3789 0.2162 Uncertain 8_22084653_C->T 8 22084653 22084653 C T snp 342.77 0/1 99 19 7 12 0.63 intronic rs4871975 PHYHIP AU NM_001099335 exon3 c.5673+115C>T 0.355831 0.6042 Uncertain 8_22085260_T->C 8 22085260 22085260 T C snp 1609.77 0/1 99 153 82 71 0.46 intronic rs10100426 PHYHIP AU NM_001099335 exon4 c.6840-445T>C 0.598442 0.7321 Uncertain 8_22103031_C->T 8 22103031 22103031 C T snp 718.77 0/1 99 57 26 31 0.54 exonic POLR3D AU synonymous SNV NM_001722 exon2 c.C69T p.A23A Uncertain 8_22104691_G->T 8 22104691 22104691 G T snp 2410.77 0/1 99 166 59 107 0.64 intronic rs34392777 POLR3D AU NM_001722 exon3 c.1771-42G>T 0.327875 0.5079 0.257112 0.3781 0.5151 Uncertain 8_22105502_T->C 8 22105502 22105502 T C snp 1802.77 1/1 99 65 0 65 1.0 exonic rs1126677 POLR3D AU synonymous SNV NM_001722 exon4 c.T342C p.A114A 0.707867 0.8264 0.622174 0.7356 0.8275 Uncertain 8_22147333_A->G 8 22147333 22147333 A G snp 487.77 0/1 99 49 29 20 0.41 intronic rs4872463 PIWIL2 AU NM_018068 exon9 c.10460-26A>G 0.521565 0.8075 0.379231 0.5536 0.8066 Uncertain 8_22167286_A->G 8 22167286 22167286 A G snp 80.77 0/1 99 6 3 3 0.5 intronic rs4486204 PIWIL2 AU NM_018068 exon15 c.30574-187A>G 0.346046 0.6171 Uncertain 8_22172702_C->T 8 22172702 22172702 C T snp 349.77 0/1 99 29 18 11 0.38 intronic rs4397403 PIWIL2 AU NM_018068 exon18 c.35759+44C>T 0.322883 0.5317 0.263648 0.3757 0.5378 Uncertain 8_22173628_C->T 8 22173628 22173628 C T snp 73.77 0/1 99 19 14 5 0.26 intronic PIWIL2 AU NM_018068 exon19 c.36858-129C>T Uncertain 8_22211635_T->C 8 22211635 22211635 T C snp 152.77 0/1 99 10 5 5 0.5 intronic PIWIL2 AU NM_018068 exon22 c.74884-148T>C Uncertain 8_22211756_T->A 8 22211756 22211756 T A snp 1601.77 0/1 99 105 45 60 0.57 intronic rs66554545 PIWIL2 AU NM_018068 exon22 c.74884-27T>A 0.572484 0.8115 0.449254 0.5892 0.8058 Uncertain 8_22262098_A->G 8 22262098 22262098 A G snp 214.77 0/1 99 27 16 11 0.41 intronic rs896375 SLC39A14 AR 0.634585 0.6974 Uncertain 8_22262142_G->A 8 22262142 22262142 G A snp 666.77 0/1 99 63 34 29 0.46 intronic rs896376 SLC39A14 AR 0.317692 0.1806 Uncertain 8_22262183_G->C 8 22262183 22262183 G C snp 1291.77 0/1 99 118 64 54 0.46 intronic rs896377 SLC39A14 AR 0.286542 0.1806 0.287150 0.2137 0.1875 Uncertain 8_22262229_GCTGCT->- 8 22262229 22262234 GCTGCT - indel 5609.73 0/1 99 186 107 79 0.42 exonic rs111662782 SLC39A14 AR nonframeshift deletion NM_001128431 exon2 c.6_11del p.2_4del 0.317692 0.1806 0.311477 0.2209 0.1849 ID=COSM1456091,COSM1098090;OCCURENCE=2(endometrium),1(breast),1(skin),1(liver),1(large_intestine) Uncertain 8_22262321_T->C 8 22262321 22262321 T C snp 2606.77 0/1 99 250 140 110 0.44 exonic rs896378 SLC39A14 AR nonsynonymous SNV NM_001128431 exon2 c.T98C p.L33P 0.628994 0.6974 0.552822 0.5313 0.7020 0.37 T 0.0 P -0.942 T 0.0 T 0.0 T Pathogenic 8_22262379_C->T 8 22262379 22262379 C T snp 2463.77 0/1 99 248 140 108 0.44 exonic rs33999442 SLC39A14 AR synonymous SNV NM_001128431 exon2 c.C156T p.G52G 0.165136 0.1736 0.182147 0.1773 0.1812 Uncertain 8_22262418_A->G 8 22262418 22262418 A G snp 1879.77 0/1 99 185 105 80 0.43 exonic rs2293144 SLC39A14 AR synonymous SNV NM_001128431 exon2 c.A195G p.L65L 0.67472 0.7798 0.574043 0.5533 0.7759 Uncertain 8_22381362_G->A 8 22381362 22381362 G A snp 183.77 0/1 99 13 7 6 0.46 intronic rs2469768 PPP3CC AU NM_001243974 exon8 c.81340+1100G>A 0.510783 0.5437 Uncertain 8_22388857_G->A 8 22388857 22388857 G A snp 2740.77 0/1 99 249 139 110 0.44 intronic rs17733355 PPP3CC AU NM_001243974 exon11 c.89919+16G>A 0.0609026 0.0982 0.0702 0.1136 Uncertain 8_22389900_T->G 8 22389900 22389900 T G snp 572.77 0/1 99 61 35 26 0.43 intronic rs2449340 PPP3CC AU NM_001243974 exon12 c.90897+81T>G 0.625799 0.6984 Uncertain 8_22396782_C->- 8 22396782 22396782 C - indel 408.73 1/1 36 12 0 12 1.0 intronic rs398007227 PPP3CC AU NM_001243974 exon14 c.98059-199delC 1 1 Uncertain 8_22398414_G->C 8 22398414 22398414 G C snp 237.84 0/1 18 9 1 8 0.89 UTR3 rs7430 PPP3CC AU 0.60643 0.6141 Uncertain 8_22419191_T->C 8 22419191 22419191 T C snp 771.77 1/1 57 23 0 23 1.0 intronic rs2469764 SORBS3 AU NM_005775 exon7 c.7358-186T>C 0.773562 0.746 Uncertain 8_22419555_G->C 8 22419555 22419555 G C snp 206.77 0/1 99 19 12 7 0.37 intronic rs34995301 SORBS3 AU NM_005775 exon7 c.7425+111G>C 0.110224 0.128 Uncertain 8_22421355_A->G 8 22421355 22421355 A G snp 100.77 0/1 99 8 4 4 0.5 intronic rs2449336 SORBS3 AU NM_005775 exon8 c.9480-144A>G 0.676318 0.6657 Uncertain 8_22421395_G->A 8 22421395 22421395 G A snp 291.77 0/1 99 23 11 12 0.52 intronic rs2469762 SORBS3 AU NM_005775 exon8 c.9480-104G>A 0.798722 0.7381 Uncertain 8_22422150_A->G 8 22422150 22422150 A G snp 218.77 0/1 99 18 11 7 0.39 intronic rs3758038 SORBS3 AU NM_005775 exon10 c.10015+116A>G 0.369209 0.2173 Uncertain 8_22422923_G->A 8 22422923 22422923 G A snp 459.77 0/1 99 29 10 19 0.66 intronic rs960509 SORBS3 AU NM_005775 exon11 c.10848+56G>A 0.397165 0.1508 Uncertain 8_22424244_T->C 8 22424244 22424244 T C snp 1739.77 0/1 99 173 92 81 0.47 intronic rs2272716 SORBS3 AU NM_005775 exon14 c.12207+18T>C 0.124601 0.0327 0.149008 0.1742 0.0327 Uncertain 8_22424489_A->G 8 22424489 22424489 A G snp 52.77 0/1 81 8 5 3 0.38 intronic rs11779261 SORBS3 AU NM_005775 exon16 c.12554-84A>G 0.528355 0.3581 Uncertain 8_22426859_G->C 8 22426859 22426859 G C snp 120.78 0/1 27 5 1 4 0.8 intronic rs13258049 SORBS3 AU NM_005775 exon17 c.14767+73G>C 0.424521 0.3343 Uncertain 8_22428658_T->C 8 22428658 22428658 T C snp 2337.77 1/1 99 88 0 88 1.0 exonic rs2449331 SORBS3 AU nonsynonymous SNV NM_001018003 exon7 c.T641C p.I214T 0.907548 1 0.883467 0.9451 1 0.91 T 0.0 P -0.978 T 0.0 T 0.0 T Pathogenic 8_22428708_A->G 8 22428708 22428708 A G snp 927.77 0/1 99 79 37 42 0.53 exonic rs1047030 SORBS3 AU nonsynonymous SNV NM_001018003 exon7 c.A691G p.T231A 0.126198 0.0278 0.137974 0.1833 0.0241 0.11 T 0.000 P -0.938 T 0.0 T 0.001 T Pathogenic 8_22428751_C->G 8 22428751 22428751 C G snp 690.77 0/1 99 50 19 31 0.62 intronic rs55893847 SORBS3 AU NM_005775 exon18 c.16715+17C>G 0.120008 0.0278 0.124513 0.1572 0.0214 Uncertain 8_22430766_C->A 8 22430766 22430766 C A snp 1168.77 0/1 99 76 30 46 0.61 intronic rs10088686 SORBS3 AU NM_005775 exon20 c.17940+807C>A 0.192292 0.0298 Uncertain 8_22432377_C->A 8 22432377 22432377 C A snp 4496.77 1/1 99 172 1 171 0.99 UTR3 rs710098 SORBS3 AU 0.384585 0.2361 0.5245 0.2677 Uncertain 8_22438859_C->G 8 22438859 22438859 C G snp 1296.77 0/1 99 116 60 56 0.48 intronic rs34457441 PDLIM2 AU NM_021630 exon3 c.2599-32C>G 0.104034 0.0317 0.137479 0.2415 0.0778 Uncertain 8_22442287_A->G 8 22442287 22442287 A G snp 1399.77 0/1 99 128 68 60 0.47 intronic rs4872003 PDLIM2 AU NM_021630 exon4 c.6041-46A>G 0.577077 0.4603 0.588421 0.5941 0.4820 Uncertain 8_22442661_A->G 8 22442661 22442661 A G snp 1271.77 0/1 99 94 42 52 0.55 exonic rs2294047 PDLIM2 AU synonymous SNV NM_176871 exon4 c.A447G p.A149A 0.584065 0.4673 0.597263 0.6013 0.4860 Uncertain 8_22447427_G->A 8 22447427 22447427 G A snp 269.77 0/1 99 23 12 11 0.48 intronic rs575711173 PDLIM2 AU NM_021630 exon8 c.10962+173G>A 0.000199681 Uncertain 8_22475807_T->C 8 22475807 22475807 T C snp 764.77 0/1 99 61 28 33 0.54 intronic rs13251089 CCAR2 AU NM_021174 exon17 c.12575-54T>C 0.0175719 0.001 Uncertain 8_22481449_A->G 8 22481449 22481449 A G snp 404.77 0/1 99 43 22 21 0.49 exonic rs1871900 BIN3 AU synonymous SNV NM_018688 exon8 c.T594C p.F198F 0.497204 0.3978 0.456543 0.4476 0.4247 Uncertain 8_22482799_A->G 8 22482799 22482799 A G snp 584.77 0/1 99 48 24 24 0.5 intronic rs876714 BIN3 AU NM_018688 exon3 c.2942+923A>G 0.452077 0.3631 0.5010 0.3182 Uncertain 8_22482851_A->C 8 22482851 22482851 A C snp 2282.77 1/1 99 80 0 80 1.0 intronic rs900268 BIN3 AU NM_018688 exon3 c.2942+975A>C 0.991214 0.999 0.9835 1 0 D 0.0 P -0.919 T Uncertain 8_22487388_C->G 8 22487388 22487388 C G snp 610.77 1/1 45 18 0 18 1.0 intronic rs6558170 BIN3 AU NM_018688 exon4 c.8542-88C>G 0.716454 0.7748 Uncertain 8_22487422_T->C 8 22487422 22487422 T C snp 861.77 1/1 63 29 0 29 1.0 intronic rs6558171 BIN3 AU NM_018688 exon4 c.8542-54T>C 0.710663 0.7788 0.656592 Uncertain 8_22491880_A->G 8 22491880 22491880 A G snp 237.77 0/1 99 27 19 8 0.3 intronic rs17088488 BIN3 AU NM_018688 exon6 c.15103-2157A>G 0.404353 0.5556 Uncertain 8_22491980_G->T 8 22491980 22491980 G T snp 1093.77 0/1 99 123 76 47 0.38 intronic rs17746902 BIN3 AU NM_018688 exon6 c.15103-2057G>T 0.65615 0.7619 0.6803 0.6806 Uncertain 8_22492052_G->A 8 22492052 22492052 G A snp 1487.77 0/1 99 175 103 72 0.41 intronic rs6558172 BIN3 AU NM_018688 exon6 c.15103-1985G>A 0.686701 0.7688 0.7039 0.7101 Uncertain 8_22492079_-->A 8 22492079 22492079 - A indel 3135.73 0/1 99 176 94 82 0.47 intronic rs11383600 BIN3 AU NM_018688 exon6 c.15103-1958insA 0.430711 0.5794 0.3736 0.5221 Uncertain 8_22492129_A->G 8 22492129 22492129 A G snp 1457.77 0/1 99 129 65 64 0.5 intronic rs6558174 BIN3 AU NM_018688 exon6 c.15103-1908A>G 0.709465 0.7897 Uncertain 8_22492143_C->T 8 22492143 22492143 C T snp 1280.77 0/1 99 113 57 56 0.5 intronic rs7838146 BIN3 AU NM_018688 exon6 c.15103-1894C>T 0.429912 0.5833 Uncertain 8_22493892_G->T 8 22493892 22493892 G T snp 65.77 0/1 94 12 8 4 0.33 intronic rs554136563 BIN3 AU NM_018688 exon6 c.15103-145G>T 0.0071885 0.0357 Uncertain 8_22570844_G->A 8 22570844 22570844 G A snp 116.77 0/1 99 8 4 4 0.5 UTR3 rs3853 PEBP4 AU 0.285942 0.2996 0.301009 0.3149 0.3155 Uncertain 8_22570901_C->T 8 22570901 22570901 C T snp 256.77 0/1 99 30 18 12 0.4 exonic rs3087803 PEBP4 AU synonymous SNV NM_144962 exon7 c.G666A p.A222A 0.120807 0.2798 0.071206 0.1192 0.2951 Uncertain 8_22570908_T->- 8 22570908 22570908 T - indel 394.73 0/1 99 34 20 14 0.41 exonic rs35121552 PEBP4 AU frameshift deletion NM_144962 exon7 c.659delA p.N220fs 0.286342 0.2996 0.3129 0.3141 Pathogenic 8_22570935_T->C 8 22570935 22570935 T C snp 440.77 0/1 99 49 29 20 0.41 exonic rs1047406 PEBP4 AU nonsynonymous SNV NM_144962 exon7 c.A632G p.E211G 0.286342 0.2996 0.298563 0.3091 0.3145 0.69 T 0.0 P -0.981 T 0.0 T 0.0 T Pathogenic 8_22571018_A->G 8 22571018 22571018 A G snp 716.77 0/1 99 84 51 33 0.39 exonic rs1047398 PEBP4 AU synonymous SNV NM_144962 exon7 c.T549C p.R183R 0.286941 0.2996 0.297716 0.3089 0.3147 Uncertain 8_22571113_G->A 8 22571113 22571113 G A snp 515.77 0/1 99 63 38 25 0.4 intronic rs2280106 PEBP4 AU NM_144962 exon1 c.167+64G>A 0.28734 0.2996 Uncertain 8_22785013_T->C 8 22785013 22785013 T C snp 1002.77 1/1 75 28 0 28 1.0 intronic rs1553778 PEBP4 AU NM_144962 exon6 c.214214-83T>C 0.977236 1 Uncertain 8_22785361_C->A 8 22785361 22785361 C A snp 476.77 1/1 36 12 0 12 1.0 UTR5 rs2466224 PEBP4 AU 0.383387 0.5804 Uncertain 8_22785386_T->G 8 22785386 22785386 T G snp 210.84 1/1 18 6 0 6 1.0 UTR5 rs2466225 PEBP4 AU 0.382987 0.5774 Uncertain 8_22861832_G->A 8 22861832 22861832 G A snp 965.77 0/1 99 63 34 29 0.46 intronic rs576720013 RHOBTB2 AU NM_001160036 exon4 c.9841-105G>A 0.000199681 Uncertain 8_22862763_T->C 8 22862763 22862763 T C snp 133.03 1/1 12 4 0 4 1.0 intronic rs2472566 RHOBTB2 AU NM_001160036 exon5 c.10788-121T>C 0.808307 0.9484 Uncertain 8_22863004_A->G 8 22863004 22863004 A G snp 5337.77 1/1 99 200 0 200 1.0 intronic rs2430811 RHOBTB2 AU NM_001160036 exon5 c.10892+16A>G 0.88778 0.9514 0.855605 0.8580 0.9573 Uncertain 8_22863017_G->T 8 22863017 22863017 G T snp 4929.77 1/1 99 190 0 190 1.0 intronic rs2466179 RHOBTB2 AU NM_001160036 exon5 c.10892+29G>T 0.846845 0.9514 0.819314 0.8466 0.9571 Uncertain 8_22863191_C->T 8 22863191 22863191 C T snp 208.84 1/1 18 7 0 7 1.0 intronic rs2430812 RHOBTB2 AU NM_001160036 exon5 c.10892+203C>T 0.863019 0.9514 Uncertain 8_22864622_T->C 8 22864622 22864622 T C snp 7808.77 1/1 99 249 0 249 1.0 exonic rs2466178 RHOBTB2 AU synonymous SNV NM_001160037 exon5 c.T885C p.S295S 0.88099 0.9514 0.850223 0.8563 0.9574 Uncertain 8_22865320_T->G 8 22865320 22865320 T G snp 1765.77 1/1 99 60 1 59 0.98 intronic rs2430815 RHOBTB2 AU NM_001160036 exon7 c.13163+61T>G 0.904752 0.9514 Uncertain 8_22872499_T->C 8 22872499 22872499 T C snp 130.03 1/1 12 4 0 4 1.0 intronic rs2472564 RHOBTB2 AU NM_001160036 exon10 c.20195+208T>C 0.915136 0.9871 Uncertain 8_22880162_G->C 8 22880162 22880162 G C snp 3438.77 1/1 99 115 1 114 0.99 UTR3 rs1047275 TNFRSF10B AR 0.417133 0.4752 0.497693 0.5331 0.4722 Uncertain 8_22881852_T->C 8 22881852 22881852 T C snp 4178.77 1/1 99 151 0 151 1.0 intronic rs6557609 TNFRSF10B AR NM_147187 exon2 c.1590+79T>C 0.863019 0.9861 Uncertain 8_22885109_A->G 8 22885109 22885109 A G snp 2064.77 1/1 99 65 0 65 1.0 intronic rs1105944 TNFRSF10B AR NM_147187 exon4 c.5051-125A>G 0.867612 0.9851 Uncertain 8_22885153_G->A 8 22885153 22885153 G A snp 1364.77 0/1 99 123 65 58 0.47 intronic rs2293402 TNFRSF10B AR NM_147187 exon4 c.5051-81G>A 0.264377 0.2331 0.185940 Uncertain 8_22885154_G->A 8 22885154 22885154 G A snp 3516.77 1/1 99 126 2 124 0.98 intronic rs1105945 TNFRSF10B AR NM_147187 exon4 c.5051-80G>A 0.539736 0.6141 0.535699 Uncertain 8_22885331_A->T 8 22885331 22885331 A T snp 1626.77 0/1 99 129 64 65 0.5 intronic rs2293400 TNFRSF10B AR NM_147187 exon4 c.5083+65A>T 0.25 0.378 0.261498 0.3358 0.4055 Uncertain 8_22886020_A->G 8 22886020 22886020 A G snp 4852.77 1/1 99 182 0 182 1.0 intronic rs13265018 TNFRSF10B AR NM_147187 exon6 c.5858-21A>G 0.862819 0.9861 0.853606 0.8899 0.9805 0.62 T 0.0 P -1.002 T 0.001 T 0.0 T Uncertain 8_22886130_A->G 8 22886130 22886130 A G snp 1951.77 1/1 99 61 0 61 1.0 intronic rs2293399 TNFRSF10B AR NM_147187 exon6 c.5932+15A>G 0.86222 0.9861 0.852914 0.8893 0.9801 Uncertain 8_22887013_C->G 8 22887013 22887013 C G snp 633.77 1/1 48 20 0 20 1.0 intronic rs6420148 TNFRSF10B AR NM_147187 exon7 c.6939-109C>G 0.849241 0.9851 Uncertain 8_22888407_G->A 8 22888407 22888407 G A snp 855.77 1/1 63 27 0 27 1.0 intronic rs10866818 TNFRSF10B AR NM_147187 exon8 c.8202+22G>A 0.85623 0.9851 0.847916 0.8920 0.9807 Uncertain 8_22926313_G->A 8 22926313 22926313 G A snp 1877.77 0/1 99 158 69 89 0.56 exonic rs1129424 TNFRSF10B AR nonsynonymous SNV NM_147187 exon1 c.C95T p.P32L 0.749401 0.9107 0.653727 0.7015 0.8966 0.82 T 0.000 P -0.996 T 0.0 T 0.0 T Pathogenic 8_22926498_G->A 8 22926498 22926498 G A snp 767.77 0/1 99 60 29 31 0.52 ncRNA_intronic rs11135695 LOC286059 AU 0.252995 0.0853 0.3847 0.1361 Uncertain 8_22960553_C->A 8 22960553 22960553 C A snp 2811.77 0/1 99 250 130 120 0.48 ncRNA_exonic rs41308122 LOC254896 AU 0.0573083 0.0804 0.0581 0.1612 0.12 T 0.000 P -1.063 T Uncertain 8_22960704_G->C 8 22960704 22960704 G C snp 6682.77 1/1 99 244 0 244 1.0 ncRNA_exonic rs6557616 LOC254896 AU 0.844649 0.8006 0.809473 0.8094 0.8005 0.86 T 0.000 P -0.987 T Uncertain 8_22960873_G->C 8 22960873 22960873 G C snp 883.77 0/1 99 94 52 42 0.45 ncRNA_exonic rs10109912 LOC254896 AU 0.440895 0.6548 0.4789 0.6610 0 D 0.0 P -0.880 T Uncertain 8_22969091_T->C 8 22969091 22969091 T C snp 1346.77 1/1 99 42 0 42 1.0 intronic rs10111172 TNFRSF10C AU NM_003841 exon2 c.8598-141T>C 0.859625 0.8194 Uncertain 8_22974325_G->A 8 22974325 22974325 G A snp 1118.77 1/1 87 47 2 45 0.96 exonic rs11780493 TNFRSF10C AU synonymous SNV NM_003841 exon5 c.G561A p.P187P 0.7562 0.6995 Uncertain 8_22974450_T->C 8 22974450 22974450 T C snp 3899.77 1/1 99 143 0 143 1.0 exonic rs9644063 TNFRSF10C AU nonsynonymous SNV NM_003841 exon5 c.T686C p.I229T 0.769169 0.8115 0.754998 0.0586 0.1628 1 T 0.000 P -0.967 T 0.0 T 0.0 T Pathogenic 8_22989954_G->A 8 22989954 22989954 G A snp 553.77 0/1 99 40 20 20 0.5 intergenic rs4872058 TNFRSF10C AU 0.230232 0.3998 Uncertain 8_22990194_TGTGTGTG->- 8 22990194 22990201 TGTGTGTG - indel 1585.73 ./1 99 46 0 46 1.0 intergenic rs36229757 TNFRSF10C AU Uncertain 8_22990194_TGTG->- 8 22990194 22990197 TGTG - indel 1585.73 ./1 99 46 0 46 1.0 intergenic rs10586037 TNFRSF10C AU 0.855232 0.9931 Uncertain 8_23001988_A->G 8 23001988 23001988 A G snp 3960.77 1/1 99 153 0 153 1.0 exonic rs1133782 TNFRSF10D AU nonsynonymous SNV NM_003840 exon7 c.T929C p.L310S 0.700879 0.9077 0.587959 0.6520 0.9014 0.12 T 0.0 P -0.962 T Pathogenic 8_23004629_T->C 8 23004629 23004629 T C snp 1181.77 1/1 87 34 0 34 1.0 intronic rs3924519 TNFRSF10D AU NM_003840 exon6 c.9203+44T>C 0.489816 0.8343 0.324543 0.3731 0.8256 Uncertain 8_23021346_G->A 8 23021346 23021346 G A snp 8085.77 1/1 99 250 0 250 1.0 exonic rs11135703 TNFRSF10D AU nonsynonymous SNV NM_003840 exon1 c.C103T p.P35S 0.259984 0.5655 0.145318 0.2073 0.5947 0.3 T 0.0 P -0.979 T 0.997 D 0.879 D Pathogenic 8_23049292_C->T 8 23049292 23049292 C T snp 1545.77 0/1 99 156 85 71 0.46 exonic rs2230229 TNFRSF10A AU nonsynonymous SNV NM_003844 exon10 c.G1322A p.R441K 0.91254 0.9772 0.849300 0.8782 0.9807 1 T 0.0 P -0.992 T 0.0 T 0.0 T ID=CM005514;DIS=Lung cancer, association with;TAG=DFP;PUB=19203830 DFP Pathogenic 8_23054779_T->C 8 23054779 23054779 T C snp 6040.77 1/1 99 221 0 221 1.0 intronic rs3824218 TNFRSF10A AU NM_003844 exon2 c.5511+62T>C 0.785543 0.8968 0.681559 Uncertain 8_23059266_C->- 8 23059266 23059266 C - indel 2966.73 1/1 99 71 0 71 1.0 intronic rs11294851 TNFRSF10A AU NM_003844 exon7 c.10114-54delC 0.578275 0.9732 Uncertain 8_23059280_G->T 8 23059280 23059280 G T snp 2090.77 1/1 99 82 0 82 1.0 intronic rs4872078 TNFRSF10A AU NM_003844 exon7 c.10114-40G>T 0.577476 0.9732 0.405736 0.5251 0.9785 Uncertain 8_23059324_C->G 8 23059324 23059324 C G snp 3121.77 1/1 99 116 0 116 1.0 exonic rs20575 TNFRSF10A AU nonsynonymous SNV NM_003844 exon4 c.G626C p.R209T 0.579473 0.9732 0.410349 0.5279 0.9786 1 T 0.0 P -0.966 T 0.0 T 0.0 T ID=CM127958;DIS=Hepatocellular carcinoma, in hepatitis C--infected patients, association with;TAG=DP;PUB=22401174 DP Pathogenic 8_23060256_T->C 8 23060256 23060256 T C snp 2449.77 1/1 99 75 0 75 1.0 exonic rs17620 TNFRSF10A AU nonsynonymous SNV NM_003844 exon3 c.A422G p.H141R 0.571685 0.9742 0.400046 0.5254 0.9789 0.13 T 0.0 P -0.910 T 0.824 T 0.177 P Pathogenic 8_23104195_G->T 8 23104195 23104195 G T snp 154.77 0/1 99 15 7 8 0.53 UTR5 rs2294123 CHMP7 AU 0.34345 0.3671 0.271739 0.4566 0.3633 Uncertain 8_23106665_A->G 8 23106665 23106665 A G snp 95.28 1/1 9 5 0 5 1.0 intronic rs2280934 CHMP7 AU NM_152272 exon3 c.2514-57A>G 0.358626 0.3631 Uncertain 8_23112957_C->T 8 23112957 23112957 C T snp 1369.77 0/1 99 105 47 58 0.55 intronic rs755424068 CHMP7 AU NM_152272 exon4 c.8737+12C>T 8.252e-06 0 Uncertain 8_23116392_G->A 8 23116392 23116392 G A snp 598.77 0/1 99 49 27 22 0.45 intronic rs4581063 CHMP7 AU NM_152272 exon8 c.12135+49G>A 0.0954473 0.1845 0.085345 0.1197 0.2007 Uncertain 8_23116429_A->C 8 23116429 23116429 A C snp 825.77 0/1 99 60 31 29 0.48 intronic rs4478582 CHMP7 AU NM_152272 exon8 c.12135+86A>C 0.384984 0.6042 Uncertain 8_23116431_C->T 8 23116431 23116431 C T snp 1859.77 1/1 99 60 2 58 0.97 intronic rs4872098 CHMP7 AU NM_152272 exon8 c.12135+88C>T 0.765375 0.8046 Uncertain 8_23117740_C->T 8 23117740 23117740 C T snp 1453.77 0/1 99 132 65 67 0.51 exonic rs57918843 CHMP7 AU nonsynonymous SNV NM_152272 exon10 c.C1204T p.P402S 0.00399361 0.0198 0.0025 0.0325 0.35 T 0.994 D -0.277 T 0.977 D 0.776 D Pathogenic 8_23118162_G->C 8 23118162 23118162 G C snp 2306.77 0/1 99 189 96 93 0.49 UTR3 rs2294124 CHMP7 AU 0.113419 0.2927 0.029602 0.0505 0.2943 Uncertain 8_23118304_C->T 8 23118304 23118304 C T snp 30.77 0/1 59 7 5 2 0.29 UTR3 rs72609908 CHMP7 AU 0.110623 0.2927 Uncertain 8_23145320_A->G 8 23145320 23145320 A G snp 550.77 1/1 42 15 0 15 1.0 upstream rs11777755 R3HCC1 AU 0.791334 0.9613 Uncertain 8_23147564_G->A 8 23147564 23147564 G A snp 1878.77 0/1 99 176 90 86 0.49 exonic;splicing rs3808536 R3HCC1;R3HCC1 UN nonsynonymous SNV NM_001136108 exon4 c.G434A p.R145K 0.532748 0.7996 0.5602 0.7951 0.21 T 0.000 P -1.110 T Pathogenic 8_23148003_G->A 8 23148003 23148003 G A snp 56.77 0/1 85 8 5 3 0.38 intronic rs4469460 R3HCC1 AU NM_001136108 exon4 c.1946+21G>A 0.550319 0.8016 0.532633 0.5791 0.7934 Uncertain 8_23148930_A->G 8 23148930 23148930 A G snp 829.77 0/1 99 88 49 39 0.44 exonic rs2272762 R3HCC1 AU synonymous SNV NM_001136108 exon5 c.A909G p.T303T 0.557308 0.7996 0.542926 0.5627 0.7942 Uncertain 8_23148940_G->A 8 23148940 23148940 G A snp 741.77 0/1 99 79 43 36 0.46 exonic rs2272761 R3HCC1 AU nonsynonymous SNV NM_001136108 exon5 c.G919A p.V307M 0.553514 0.7996 0.532633 0.5519 0.7942 0.11 T 0.0 P -0.910 T 0.141 T 0.007 T Pathogenic 8_23149089_A->G 8 23149089 23149089 A G snp 31.77 0/1 60 7 5 2 0.29 intronic rs2272759 R3HCC1 AU NM_001136108 exon5 c.3010+43A>G 0.557109 0.7996 0.531975 0.5576 0.7952 Uncertain 8_23150635_A->G 8 23150635 23150635 A G snp 40.77 0/1 31 3 1 2 0.67 intronic rs10101089 R3HCC1 AU NM_001136108 exon6 c.4779-180A>G 0.59405 0.7996 Uncertain 8_23150671_A->G 8 23150671 23150671 A G snp 262.77 0/1 99 17 8 9 0.53 intronic rs11135720 R3HCC1 AU NM_001136108 exon6 c.4779-144A>G 0.552316 0.7986 Uncertain 8_23150734_C->T 8 23150734 23150734 C T snp 536.77 0/1 99 55 29 26 0.47 intronic rs73673359 R3HCC1 AU NM_001136108 exon6 c.4779-81C>T 0.0621006 0.0506 Uncertain 8_23150878_T->G 8 23150878 23150878 T G snp 1632.77 0/1 99 121 51 70 0.58 exonic rs13530 R3HCC1 AU nonsynonymous SNV NM_001136108 exon6 c.T1088G p.L363R 0.552716 0.7996 0.5565 0.7915 0.53 T 1.0 P -1.008 T 0.966 D 0.691 D Pathogenic 8_23151000_A->G 8 23151000 23151000 A G snp 258.77 0/1 99 20 10 10 0.5 intronic rs3860836 R3HCC1 AU NM_001136108 exon6 c.4850+114A>G 0.554912 0.7986 Uncertain 8_23151044_G->A 8 23151044 23151044 G A snp 40.79 0/1 23 3 1 2 0.67 intronic rs3860837 R3HCC1 AU NM_001136108 exon6 c.4850+158G>A 0.552516 0.7986 Uncertain 8_23152334_A->G 8 23152334 23152334 A G snp 4284.77 1/1 99 159 0 159 1.0 exonic rs15946 R3HCC1 AU synonymous SNV NM_001136108 exon7 c.A1149G p.T383T 0.777157 0.9613 0.757556 0.7227 0.9550 Uncertain 8_23153022_T->C 8 23153022 23153022 T C snp 1498.77 0/1 99 124 60 64 0.52 intronic rs1002792 R3HCC1 AU NM_001136108 exon8 c.7443-457T>C 0.577875 0.7986 0.5639 0.8134 Uncertain 8_23160778_C->G 8 23160778 23160778 C G snp 1004.77 0/1 99 91 47 44 0.48 intronic rs3765215 LOXL2 AU NM_002318 exon4 c.5239-16C>G 0.178115 0.256 0.223820 0.2309 0.2599 Uncertain 8_23167353_T->G 8 23167353 23167353 T G snp 1983.77 0/1 99 182 92 90 0.49 exonic rs1063582 LOXL2 AU nonsynonymous SNV NM_002318 exon10 c.A1708C p.M570L 0.778954 0.744 0.742657 0.7877 0.7429 0.99 T 0.521 P -0.972 T 0.0 T 0.009 T Pathogenic 8_23167435_T->C 8 23167435 23167435 T C snp 2080.77 0/1 99 170 76 94 0.55 intronic rs2294126 LOXL2 AU NM_002318 exon5 c.11869+11T>C 0.0822684 0.1577 0.057751 0.0467 0.1627 Uncertain 8_23167560_T->C 8 23167560 23167560 T C snp 478.77 0/1 99 53 34 19 0.36 intronic rs12548642 LOXL2 AU NM_002318 exon5 c.11869+136T>C 0.69988 0.744 Uncertain 8_23174425_T->C 8 23174425 23174425 T C snp 1013.77 1/1 75 27 0 27 1.0 intronic rs3824213 LOXL2 AU NM_002318 exon6 c.18906-36T>C 0.707268 0.6974 0.735797 0.7610 0.7077 Uncertain 8_23174481_G->A 8 23174481 23174481 G A snp 1218.77 0/1 99 103 49 54 0.52 exonic rs7357444 LOXL2 AU synonymous SNV NM_002318 exon9 c.C1617T p.A539A 0.0730831 0.0595 0.046217 0.0437 0.0671 Uncertain 8_23174498_C->T 8 23174498 23174498 C T snp 1513.77 0/1 99 134 67 67 0.5 exonic rs149587418 LOXL2 AU nonsynonymous SNV NM_002318 exon9 c.G1600A p.G534R 0.014377 0.0188 0.001230 0.0134 0.0142 0 D 1 D -1.036 T 1.0 D 0.979 D Pathogenic 8_23174499_G->A 8 23174499 23174499 G A snp 1613.77 0/1 99 137 70 67 0.49 exonic rs3736016 LOXL2 AU synonymous SNV NM_002318 exon9 c.C1599T p.G533G 0.0385383 0.1597 0.000538 0.0173 0.1626 ID=COSM150468;OCCURENCE=1(stomach) Uncertain 8_23174748_A->G 8 23174748 23174748 A G snp 953.77 0/1 99 85 49 36 0.42 intronic rs13250587 LOXL2 AU NM_002318 exon6 c.19072+121A>G 0.633387 0.5407 Uncertain 8_23174823_G->C 8 23174823 23174823 G C snp 37.77 0/1 66 7 5 2 0.29 intronic rs79320561 LOXL2 AU NM_002318 exon6 c.19072+196G>C 0.632388 0.5397 Uncertain 8_23174824_T->C 8 23174824 23174824 T C snp 34.77 0/1 63 7 5 2 0.29 intronic rs75209794 LOXL2 AU NM_002318 exon6 c.19072+197T>C 0.632388 0.5397 Uncertain 8_23174825_G->A 8 23174825 23174825 G A snp 32.77 0/1 61 7 5 2 0.29 intronic rs76278588 LOXL2 AU NM_002318 exon6 c.19072+198G>A 0.630192 0.5397 Uncertain 8_23177619_C->A 8 23177619 23177619 C A snp 2586.77 1/1 99 90 0 90 1.0 intronic rs13254579 LOXL2 AU NM_002318 exon7 c.22010+54C>A 0.698083 0.7222 Uncertain 8_23177713_G->A 8 23177713 23177713 G A snp 37.77 0/1 66 6 4 2 0.33 intronic rs78622961 LOXL2 AU NM_002318 exon7 c.22010+148G>A 0.0157748 0.0169 Uncertain 8_23190842_C->A 8 23190842 23190842 C A snp 206.77 0/1 99 28 19 9 0.32 intronic rs2294129 LOXL2 AU NM_002318 exon10 c.35358-71C>A 0.0369409 0.1597 Uncertain 8_23190926_C->T 8 23190926 23190926 C T snp 1788.77 0/1 99 149 80 69 0.46 exonic rs2294128 LOXL2 AU synonymous SNV NM_002318 exon5 c.G954A p.A318A 0.0403355 0.1696 0.000692 0.0155 0.1655 1.0 P -1.042 T Likely benign 8_23190941_T->C 8 23190941 23190941 T C snp 2200.77 0/1 99 179 94 85 0.47 exonic rs1010156 LOXL2 AU synonymous SNV NM_002318 exon5 c.A939G p.S313S 0.412141 0.4742 0.491927 0.4999 0.4677 0.999 P -1.005 T ID=CM071849;DIS=Intracranial aneurysm, association with;TAG=DP;PUB=17287949 DP Likely benign 8_23190995_T->C 8 23190995 23190995 T C snp 2958.77 0/1 99 250 125 125 0.5 exonic rs2294127 LOXL2 AU synonymous SNV NM_002318 exon5 c.A885G p.L295L 0.0369409 0.1597 0.000461 0.0149 0.1594 1.0 P -1.060 T Likely benign 8_23226014_C->T 8 23226014 23226014 C T snp 1074.77 1/1 78 33 0 33 1.0 intronic rs6999447 LOXL2 AU NM_002318 exon13 c.70392+67C>T 0.365216 0.5526 Uncertain 8_23226094_T->C 8 23226094 23226094 T C snp 93.28 1/1 9 3 0 3 1.0 intronic rs6985160 LOXL2 AU NM_002318 exon13 c.70392+147T>C 0.743011 0.8413 Uncertain 8_23282442_CATTATACAA->- 8 23282442 23282451 CATTATACAA - indel 10178.7 0/1 99 166 84 82 0.49 intergenic rs11276760 LOXL2 AU 0.325479 0.4355 Uncertain 8_23290769_T->G 8 23290769 23290769 T G snp 770.77 0/1 99 56 30 26 0.46 intronic rs3736021 ENTPD4 AU NM_001128930 exon1 c.229+102T>G 0.188898 0.2708 Uncertain 8_23292136_C->T 8 23292136 23292136 C T snp 34.77 0/1 63 5 3 2 0.4 intronic rs12678121 ENTPD4 AU NM_001128930 exon2 c.1553+145C>T 0.406949 0.4355 Uncertain 8_23294761_T->C 8 23294761 23294761 T C snp 500.77 0/1 99 48 28 20 0.42 exonic rs2272641 ENTPD4 AU nonsynonymous SNV NM_001128930 exon10 c.A1036G p.K346E 0.155751 0.2708 0.086268 0.1117 0.2678 0.83 T 0.945 P -0.949 T 0.002 T 0.009 T Pathogenic 8_23301340_A->C 8 23301340 23301340 A C snp 1867.77 0/1 99 202 113 89 0.44 intronic rs11787224 ENTPD4 AU NM_001128930 exon8 c.10924-22A>C 0.325679 0.4355 0.279794 0.2952 0.4679 Uncertain 8_23302164_A->G 8 23302164 23302164 A G snp 885.77 0/1 99 86 48 38 0.44 intronic rs2272640 ENTPD4 AU NM_001128930 exon9 c.11681+45A>G 0.448682 0.4365 0.415885 0.3523 0.4602 Uncertain 8_23307580_G->T 8 23307580 23307580 G T snp 478.77 0/1 99 46 28 18 0.39 intronic rs11777391 ENTPD4 AU NM_001128930 exon12 c.17072+70G>T 0.376997 0.4355 Uncertain 8_23432326_T->A 8 23432326 23432326 T A snp 2796.77 1/1 99 91 0 91 1.0 intergenic rs1398232 SLC25A37 AU 0.998003 1 Uncertain 8_23540417_C->T 8 23540417 23540417 C T snp 1469.77 1/1 99 57 0 57 1.0 UTR5 rs11781886 NKX3-1 AU 0.685903 0.7143 0.830018 0.7480 0.7292 ID=CR106743;DIS=Prostate cancer, association with;TAG=DFP;PUB=20716579 DFP Uncertain 8_24166096_G->A 8 24166096 24166096 G A snp 1254.77 0/1 99 86 36 50 0.58 ncRNA_intronic rs41423147 LOC101929294 AU 0.192891 0.3532 Uncertain 8_24166388_C->T 8 24166388 24166388 C T snp 183.77 0/1 99 26 18 8 0.31 ncRNA_intronic rs62502720 LOC101929294 AU 0.217851 0.3532 Uncertain 8_24171051_C->T 8 24171051 24171051 C T snp 1521.77 0/1 99 159 88 71 0.45 exonic rs6996616 ADAM28 AU synonymous SNV NM_001304351 exon6 c.C534T p.H178H 0.186102 0.3621 0.159080 0.1637 0.3489 Uncertain 8_24171122_C->T 8 24171122 24171122 C T snp 1602.77 0/1 99 123 61 62 0.5 ncRNA_intronic rs76579335 LOC101929294 AU 0.014377 0.0675 0.000308 0.0045 0.0577 Uncertain 8_24187399_T->A 8 24187399 24187399 T A snp 920.77 0/1 99 36 6 30 0.83 ncRNA_intronic rs11994377 LOC101929294 AU Uncertain 8_24187410_G->T 8 24187410 24187410 G T snp 466.77 0/1 99 51 33 18 0.35 ncRNA_intronic rs3763537 LOC101929294 AU 0.10004 0.2589 Uncertain 8_24188844_T->C 8 24188844 24188844 T C snp 2081.77 0/1 99 175 90 85 0.49 splicing rs2278467 ADAM28 AU NM_021777 exon12 c.37178+4T>C 0.223243 0.376 0.193065 0.1793 0.3673 Pathogenic 8_24193264_T->C 8 24193264 24193264 T C snp 2596.77 1/1 99 95 0 95 1.0 ncRNA_intronic rs4872222 LOC101929294 AU 0.986621 1 Uncertain 8_24196898_C->T 8 24196898 24196898 C T snp 455.77 0/1 99 32 14 18 0.56 ncRNA_intronic rs11994522 LOC101929294 AU 0.201478 0.3651 Uncertain 8_24199063_G->A 8 24199063 24199063 G A snp 1110.77 0/1 99 105 57 48 0.46 ncRNA_intronic rs11989219 LOC101929294 AU 0.203674 0.374 0.171382 0.1699 0.3567 Uncertain 8_24199318_G->A 8 24199318 24199318 G A snp 472.77 0/1 99 60 39 21 0.35 ncRNA_intronic rs62498242 LOC101929294 AU 0.203674 0.374 0.171690 0.1696 0.3599 Uncertain 8_24199354_T->C 8 24199354 24199354 T C snp 127.77 0/1 99 27 18 9 0.33 ncRNA_intronic rs62498243 LOC101929294 AU 0.203674 0.374 Uncertain 8_24200474_C->T 8 24200474 24200474 C T snp 691.77 0/1 99 68 35 33 0.49 ncRNA_intronic rs62498247 LOC101929294 AU 0.102037 0.2619 Uncertain 8_24208606_C->T 8 24208606 24208606 C T snp 56.74 1/1 6 2 0 2 1.0 ncRNA_intronic rs11135796 LOC101929294 AU 0.311102 0.1944 Uncertain 8_24208649_C->T 8 24208649 24208649 C T snp 601.77 1/1 45 17 0 17 1.0 ncRNA_intronic rs10092862 LOC101929294 AU 0.947484 1 Uncertain 8_24208847_G->A 8 24208847 24208847 G A snp 1622.77 0/1 99 148 74 74 0.5 ncRNA_intronic rs7009516 LOC101929294 AU 0.563698 0.6736 0.536445 0.5058 0.6752 0.0 P -0.969 T Uncertain 8_24208934_C->A 8 24208934 24208934 C A snp 1170.77 0/1 99 100 48 52 0.52 ncRNA_intronic rs5012230 LOC101929294 AU 0.296925 0.1954 0.4116 0.1970 Uncertain 8_24211278_C->T 8 24211278 24211278 C T snp 1653.77 1/1 99 71 0 71 1.0 splicing rs7815643 ADAM28 AU NM_014265 exon22 c.59620-4C>T 0.965855 1 0.977472 0.9863 0.9990 Pathogenic 8_24211331_G->A 8 24211331 24211331 G A snp 2178.77 1/1 99 79 0 79 1.0 exonic rs7814768 ADAM28 AU nonsynonymous SNV NM_014265 exon22 c.G2293A p.V765M 0.967053 1 0.978311 0.9866 0.9990 0.38 T 0.0 P -1.017 T 0.0 T 0.001 T Pathogenic 8_24211739_C->A 8 24211739 24211739 C A snp 54.74 1/1 6 2 0 2 1.0 ncRNA_intronic rs6557730 LOC101929294 AU 0.967252 1 Uncertain 8_24211884_-->TGTC 8 24211884 24211884 - TGTC indel 3910.73 1/1 99 61 0 61 1.0 ncRNA_intronic rs10671322 LOC101929294 AU 0.967252 1 0.977924 0.9859 0.9993 Uncertain 8_24211994_CTAT->- 8 24211994 24211997 CTAT - indel 4652.73 1/1 99 73 0 73 1.0 ncRNA_intronic rs10584989 LOC101929294 AU 0.967252 1 0.975218 Uncertain 8_24247556_A->G 8 24247556 24247556 A G snp 252.77 0/1 99 18 5 13 0.72 ncRNA_intronic rs4872231 LOC101929294 AU 0.32528 0.2073 Uncertain 8_24256470_C->T 8 24256470 24256470 C T snp 2371.77 0/1 99 209 98 111 0.53 exonic rs2291577 ADAMDEC1 AU synonymous SNV NM_001145272 exon8 c.C609T p.S203S 0.292931 0.2034 0.342688 0.3924 0.1890 Uncertain 8_24257137_T->C 8 24257137 24257137 T C snp 465.77 0/1 99 29 15 14 0.48 ncRNA_intronic rs17799264 LOC101929294 AU 0.307508 0.2044 Uncertain 8_24261526_A->G 8 24261526 24261526 A G snp 3221.92 0/1 99 250 116 134 0.54 exonic rs3765124 ADAMDEC1 AU nonsynonymous SNV NM_001145272 exon12 c.A1094G p.N365S 0.294928 0.2044 0.344533 0.3941 0.1893 0.39 T 0.0 P -0.902 T 0.929 T 0.458 D Pathogenic 8_24333601_G->A 8 24333601 24333601 G A snp 317.77 0/1 99 34 17 17 0.5 ncRNA_intronic rs10100176 LOC101929294 AU 0.61222 0.2996 Uncertain 8_24339679_G->A 8 24339679 24339679 G A snp 411.77 0/1 99 34 17 17 0.5 exonic rs13255694 ADAM7 AU nonsynonymous SNV NM_003817 exon9 c.G730A p.V244M 0.261382 0.1875 0.260960 0.3261 0.1851 0 D 1.000 P -1.131 T 1.0 D 1.0 D Pathogenic 8_24339897_A->- 8 24339897 24339897 A - indel 236.73 0/1 99 28 11 17 0.61 ncRNA_intronic rs11348969 LOC101929294 AU Uncertain 8_24348221_T->A 8 24348221 24348221 T A snp 794.77 0/1 99 74 45 29 0.39 ncRNA_intronic rs1492401 LOC101929294 AU 0.822684 0.6448 Uncertain 8_24348241_A->G 8 24348241 24348241 A G snp 1141.77 0/1 99 105 62 43 0.41 ncRNA_intronic rs2242354 LOC101929294 AU 0.279952 0.1915 Uncertain 8_24356818_A->C 8 24356818 24356818 A C snp 1058.77 0/1 99 98 52 46 0.47 exonic rs13259668 ADAM7 AU nonsynonymous SNV NM_003817 exon17 c.A1912C p.N638H 0.326278 0.1935 0.330463 0.3436 0.1826 0.66 T 0.0 P -0.988 T 0.001 T 0.001 T ID=CM099895;DIS=Schizophrenia, association with;TAG=DP;PUB=19435634 DP Pathogenic 8_24357917_G->T 8 24357917 24357917 G T snp 353.77 0/1 46 15 2 13 0.87 ncRNA_intronic rs4242407 LOC101929294 AU 0.275759 0.1905 Uncertain 8_24358219_A->G 8 24358219 24358219 A G snp 1900.77 0/1 99 171 95 76 0.44 ncRNA_intronic rs17739399 LOC101929294 AU 0.285942 0.1915 Uncertain 8_24359068_G->A 8 24359068 24359068 G A snp 995.77 0/1 99 95 51 44 0.46 exonic rs13277171 ADAM7 AU synonymous SNV NM_003817 exon20 c.G2187A p.L729L 0.264776 0.1885 0.262648 0.3235 0.1799 Uncertain 8_24359126_TT->- 8 24359126 24359127 TT - indel 434.73 0/1 99 38 12 26 0.68 ncRNA_intronic rs3071035 LOC101929294 AU 0.277356 0.1865 0.279875 0.3963 0.2464 Uncertain 8_24363447_T->C 8 24363447 24363447 T C snp 46.74 1/1 6 2 0 2 1.0 ncRNA_intronic rs7003033 LOC101929294 AU 0.643371 0.2956 Uncertain 8_24363792_G->A 8 24363792 24363792 G A snp 263.77 0/1 99 25 13 12 0.48 ncRNA_intronic rs6982442 LOC101929294 AU 0.623602 0.2946 Uncertain 8_24365158_CA->- 8 24365158 24365159 CA - indel 1123.73 0/1 99 51 21 30 0.59 ncRNA_intronic rs34338646 LOC101929294 AU 0.6248 0.2946 Uncertain 8_24366020_T->C 8 24366020 24366020 T C snp 1198.77 0/1 99 113 61 52 0.46 ncRNA_intronic rs2290150 LOC101929294 AU 0.292133 0.1905 0.294172 0.3335 0.1774 Uncertain 8_24774683_C->A 8 24774683 24774683 C A snp 2908.77 1/1 99 115 0 115 1.0 exonic rs196864 NEFM AU nonsynonymous SNV NM_005382 exon3 c.C1315A p.P439T 0.902955 0.999 0.875211 0.9368 1 1 T 0.0 P -0.912 T 0.003 T 0.004 T Pathogenic 8_24811065_G->- 8 24811065 24811065 G - indel 2568.73 1/1 99 74 0 74 1.0 splicing rs11300136 NEFL AR,AD NM_006158 exon3 c.743delG 1 1 0.999742 1.0000 1 Pathogenic 8_24811831_C->A 8 24811831 24811831 C A snp 623.77 0/1 99 49 23 26 0.53 intronic rs771964519 NEFL AR,AD NM_006158 exon4 c.1497+12C>A 5.828e-05 0.0008 Uncertain 8_25132735_T->A 8 25132735 25132735 T A snp 452.77 0/1 99 26 11 15 0.58 intronic rs4478580 DOCK5 AU NM_024940 exon4 c.90478-166T>A 0.447684 0.2708 Uncertain 8_25149501_T->G 8 25149501 25149501 T G snp 305.77 0/1 99 29 17 12 0.41 intronic rs78044122 DOCK5 AU NM_024940 exon6 c.107116-38T>G 0.0808706 0.0853 0.049084 0.0789 0.1536 Uncertain 8_25156296_T->G 8 25156296 25156296 T G snp 822.77 1/1 63 21 0 21 1.0 intronic rs2956656 DOCK5 AU NM_024940 exon8 c.114036-163T>G 0.996605 1 Uncertain 8_25158026_G->A 8 25158026 25158026 G A snp 1333.77 0/1 99 116 54 62 0.53 intronic rs2709639 DOCK5 AU NM_024940 exon9 c.115668-65G>A 0.771765 0.7599 Uncertain 8_25158073_T->- 8 25158073 25158073 T - indel 4668.73 1/1 99 152 0 152 1.0 intronic rs5890219 DOCK5 AU NM_024940 exon9 c.115668-18delT 0.895767 0.8629 0.8461 Uncertain 8_25159665_T->C 8 25159665 25159665 T C snp 581.77 1/1 45 16 0 16 1.0 intronic rs868335 DOCK5 AU NM_024940 exon10 c.117417-175T>C 0.853035 0.8482 Uncertain 8_25159885_G->A 8 25159885 25159885 G A snp 1665.77 0/1 99 128 56 72 0.56 exonic rs907157 DOCK5 AU synonymous SNV NM_024940 exon10 c.G891A p.V297V 0.277955 0.244 0.346148 0.4083 0.2452 0 D 1.0 P -0.901 T Likely benign 8_25160084_C->T 8 25160084 25160084 C T snp 114.77 0/1 99 7 3 4 0.57 intronic rs2709638 DOCK5 AU NM_024940 exon10 c.117547+114C>T 0.676717 0.756 Uncertain 8_25160085_A->G 8 25160085 25160085 A G snp 114.77 0/1 99 7 3 4 0.57 intronic rs2709637 DOCK5 AU NM_024940 exon10 c.117547+115A>G 0.677316 0.756 Uncertain 8_25166097_C->G 8 25166097 25166097 C G snp 50.74 1/1 6 2 0 2 1.0 intronic rs2666166 DOCK5 AU NM_024940 exon12 c.123875-201C>G 0.732628 0.8512 Uncertain 8_25166564_A->G 8 25166564 25166564 A G snp 54.74 1/1 6 3 0 3 1.0 intronic rs2666167 DOCK5 AU NM_024940 exon12 c.124018+123A>G 0.913938 0.875 Uncertain 8_25168219_C->T 8 25168219 25168219 C T snp 141.03 1/1 12 4 0 4 1.0 intronic rs2709632 DOCK5 AU NM_024940 exon13 c.125625+171C>T 0.8748 0.875 Uncertain 8_25174495_C->T 8 25174495 25174495 C T snp 4349.77 1/1 99 156 0 156 1.0 intronic rs2666169 DOCK5 AU NM_024940 exon14 c.132099-27C>T 0.777955 0.7698 0.826157 0.7922 0.7483 Uncertain 8_25174710_C->T 8 25174710 25174710 C T snp 805.77 1/1 60 21 0 21 1.0 intronic rs2709627 DOCK5 AU NM_024940 exon14 c.132224+63C>T 0.845447 0.8433 Uncertain 8_25174723_T->C 8 25174723 25174723 T C snp 506.77 1/1 39 13 0 13 1.0 intronic rs2666168 DOCK5 AU NM_024940 exon14 c.132224+76T>C 0.768371 0.7698 Uncertain 8_25181356_C->T 8 25181356 25181356 C T snp 1233.77 1/1 90 38 0 38 1.0 intronic rs2666174 DOCK5 AU NM_024940 exon17 c.138940-7C>T 0.99381 1 0.994464 0.9985 1 Uncertain 8_25182969_C->T 8 25182969 25182969 C T snp 3783.77 1/1 99 142 0 142 1.0 exonic rs2666172 DOCK5 AU synonymous SNV NM_024940 exon18 c.C1809T p.S603S 0.66893 0.7688 0.705290 0.7151 0.7436 1.000 P Uncertain 8_25200148_A->G 8 25200148 25200148 A G snp 551.77 1/1 42 16 0 16 1.0 intronic rs10110351 DOCK5 AU NM_024940 exon25 c.157600+125A>G 1 1 Uncertain 8_25202915_A->G 8 25202915 25202915 A G snp 2390.77 1/1 99 77 0 77 1.0 intronic rs2468901 DOCK5 AU NM_024940 exon26 c.160567-75A>G 0.974641 1 0.9918 1 Uncertain 8_25203022_A->G 8 25203022 25203022 A G snp 5025.77 1/1 99 180 0 180 1.0 exonic rs2468902 DOCK5 AU synonymous SNV NM_024940 exon26 c.A2649G p.T883T 0.974641 1 0.972705 0.9921 1 1.000 P -1.025 T Likely benign 8_25209031_A->G 8 25209031 25209031 A G snp 43.77 0/1 64 4 2 2 0.5 intronic DOCK5 AU NM_024940 exon27 c.166823-215A>G Uncertain 8_25216620_A->T 8 25216620 25216620 A T snp 2288.77 0/1 99 193 89 104 0.54 intronic rs17053446 DOCK5 AU NM_024940 exon28 c.174154+43A>T 0.306909 0.3442 0.315008 0.3218 0.3588 Uncertain 8_25222165_A->G 8 25222165 25222165 A G snp 1384.77 0/1 99 147 84 63 0.43 exonic rs2271111 DOCK5 AU nonsynonymous SNV NM_024940 exon30 c.A3068G p.Q1023R 0.245607 0.3562 0.259342 0.3719 0.4223 0.75 T 0.996 P -0.949 T 0.001 T 0.005 T Pathogenic 8_25225804_C->T 8 25225804 25225804 C T snp 1531.77 0/1 99 144 76 68 0.47 intronic rs2257081 DOCK5 AU NM_024940 exon32 c.183343+38C>T 0.380391 0.4107 0.376672 0.4141 0.3927 Uncertain 8_25227226_G->T 8 25227226 25227226 G T snp 444.77 0/1 99 23 8 15 0.65 intronic rs2048084 DOCK5 AU NM_024940 exon34 c.184734+69G>T 0.410343 0.4137 Uncertain 8_25227229_T->G 8 25227229 25227229 T G snp 97.77 0/1 99 20 14 6 0.3 intronic rs2048083 DOCK5 AU NM_024940 exon34 c.184734+72T>G 0.451278 0.4028 Uncertain 8_25227234_A->G 8 25227234 25227234 A G snp 109.77 0/1 99 17 11 6 0.35 intronic rs2048082 DOCK5 AU NM_024940 exon34 c.184734+77A>G 0.451677 0.4048 Uncertain 8_25227255_C->T 8 25227255 25227255 C T snp 338.78 1/1 27 10 0 10 1.0 intronic rs2659578 DOCK5 AU NM_024940 exon34 c.184734+98C>T 0.973442 1 Uncertain 8_25230168_C->T 8 25230168 25230168 C T snp 1075.77 0/1 99 124 70 54 0.44 exonic rs2271108 DOCK5 AU synonymous SNV NM_024940 exon35 c.C3618T p.D1206D 0.438099 0.3968 0.452714 0.4752 0.4148 Uncertain 8_25230267_T->C 8 25230267 25230267 T C snp 657.77 0/1 99 68 37 31 0.46 intronic rs2271106 DOCK5 AU NM_024940 exon35 c.187811+33T>C 0.438099 0.3968 0.452253 0.4944 0.4395 Uncertain 8_25231044_T->G 8 25231044 25231044 T G snp 89.77 0/1 99 13 9 4 0.31 intronic rs12676152 DOCK5 AU NM_024940 exon36 c.188710-89T>G 0.4377 0.3968 Uncertain 8_25231117_-->T 8 25231117 25231117 - T indel 548.73 0/1 99 63 37 26 0.41 intronic rs3215159 DOCK5 AU NM_024940 exon36 c.188710-16insT 0.5177 0.4653 Uncertain 8_25231385_T->C 8 25231385 25231385 T C snp 1297.77 0/1 99 73 28 45 0.62 intronic rs2271105 DOCK5 AU NM_024940 exon36 c.188751+211T>C 0.439896 0.3938 Uncertain 8_25231912_A->G 8 25231912 25231912 A G snp 279.77 0/1 99 17 8 9 0.53 intronic rs7014005 DOCK5 AU NM_024940 exon37 c.189656-167A>G 0.440096 0.3968 Uncertain 8_25234858_A->G 8 25234858 25234858 A G snp 4758.77 1/1 99 165 1 164 0.99 exonic rs2659585 DOCK5 AU nonsynonymous SNV NM_024940 exon38 c.A3854G p.K1285R 0.997005 1 0.994464 0.9987 1 0.91 T 0.000 P -0.966 T 0.0 T 0.0 T Pathogenic 8_25240437_A->G 8 25240437 25240437 A G snp 80.77 0/1 67 5 2 3 0.6 intronic rs11779690 DOCK5 AU NM_024940 exon40 c.197871+143A>G 0.326877 0.3819 Uncertain 8_25246481_G->A 8 25246481 25246481 G A snp 224.84 1/1 18 6 0 6 1.0 intronic rs2709602 DOCK5 AU NM_024940 exon41 c.204183-125G>A 0.886781 1 Uncertain 8_25257531_A->G 8 25257531 25257531 A G snp 2778.77 1/1 99 98 1 97 0.99 intronic rs3763520 DOCK5 AU NM_024940 exon46 c.215087+21A>G 0.509185 0.6339 0.513148 0.6043 0.6289 Uncertain 8_25267622_A->G 8 25267622 25267622 A G snp 6381.77 1/1 99 232 0 232 1.0 exonic rs2709618 DOCK5 AU synonymous SNV NM_024940 exon51 c.A5412G p.P1804P 0.519369 0.6379 0.519071 0.6070 0.6299 Uncertain 8_25268500_CACGCA->- 8 25268500 25268505 CACGCA - indel 518.75 1/1 24 8 0 8 1.0 intronic rs5890238 DOCK5 AU NM_024940 exon52 c.226286-209_226286-204delCACGCA Uncertain 8_25280609_C->T 8 25280609 25280609 C T snp 235.77 0/1 99 37 25 12 0.32 intronic rs4871940 GNRH1 AR NM_000825 exon3 c.3771-96C>T 0.0151757 0.0724 Uncertain 8_25280666_A->C 8 25280666 25280666 A C snp 2515.77 1/1 99 93 0 93 1.0 intronic rs2709608 GNRH1 AR NM_000825 exon3 c.3771-39A>C 0.956669 1 0.959983 0.9861 1 Uncertain 8_25280800_C->G 8 25280800 25280800 C G snp 4120.77 1/1 99 148 0 148 1.0 exonic rs6185 GNRH1 AR nonsynonymous SNV NM_000825 exon1 c.G59C p.W20S 0.224241 0.5476 0.201436 0.2332 0.5475 0.08 T 0.0 P -0.920 T 0.002 T 0.002 T Pathogenic 8_25287556_A->G 8 25287556 25287556 A G snp 2098.77 1/1 99 78 0 78 1.0 intronic rs965130 KCTD9 AU NM_017634 exon1 c.117+67A>G 0.525359 0.6409 Uncertain 8_25317691_A->T 8 25317691 25317691 A T snp 5316.77 1/1 99 183 1 182 0.99 intronic rs6987936 CDCA2 AU 0.957468 1 0.959045 Uncertain 8_25323777_T->C 8 25323777 25323777 T C snp 2600.77 1/1 99 100 0 100 1.0 exonic rs10108752 CDCA2 AU synonymous SNV NM_152562 exon5 c.T474C p.N158N 0.955471 1 0.954021 0.9860 1 Uncertain 8_25365278_G->A 8 25365278 25365278 G A snp 1200.77 1/1 87 40 0 40 1.0 UTR3 rs8537 CDCA2 AU 0.618011 0.7014 0.606182 0.6879 0.6825 Uncertain 8_25744257_G->A 8 25744257 25744257 G A snp 4413.77 1/1 99 159 1 158 0.99 intronic rs6557865 EBF2 AU NM_022659 exon7 c.42146-13G>A 0.946286 0.999 0.905105 0.9020 0.9990 Uncertain 8_25766097_-->T 8 25766097 25766097 - T indel 1040.73 0/1 99 88 41 47 0.53 intronic rs34200265 EBF2 AU NM_022659 exon10 c.63947+26insT 0.449281 0.7272 0.416637 0.4999 0.7284 Uncertain 8_25890478_G->C 8 25890478 25890478 G C snp 2550.77 1/1 99 87 0 87 1.0 intronic rs1872497 EBF2 AU NM_022659 exon11 c.188476-122G>C 0.971246 1 Uncertain 8_26196633_A->T 8 26196633 26196633 A T snp 186.77 0/1 99 12 5 7 0.58 intronic rs3808573 PPP2R2A AU NM_001177591 exon3 c.45741+130A>T 0.256589 0.4286 Uncertain 8_26221331_T->C 8 26221331 26221331 T C snp 698.77 0/1 99 61 32 29 0.48 exonic rs2229762 PPP2R2A AU synonymous SNV NM_001177591 exon8 c.T927C p.Y309Y 0.0197684 0.0784 0.000077 0.0122 0.1043 Uncertain 8_26227599_A->C 8 26227599 26227599 A C snp 330.77 0/1 99 25 13 12 0.48 intronic rs3824232 PPP2R2A AU NM_001177591 exon10 c.76887-50A>C 0.241813 0.4325 0.183454 0.1669 0.4241 Uncertain 8_26227640_A->G 8 26227640 26227640 A G snp 697.77 0/1 99 63 33 30 0.48 intronic rs3808565 PPP2R2A AU NM_001177591 exon10 c.76887-9A>G 0.144569 0.4325 0.059289 0.0863 0.4243 Uncertain 8_26240646_A->G 8 26240646 26240646 A G snp 7027.77 1/1 99 250 0 250 1.0 UTR5 rs1055479 BNIP3L AU 0.683506 0.88 0.663886 0.6741 0.8853 Uncertain 8_26249018_G->A 8 26249018 26249018 G A snp 1734.77 1/1 99 54 0 54 1.0 intronic rs2304300 BNIP3L AU NM_004331 exon2 c.8296+76G>A 0.726637 0.881 Uncertain 8_26265907_A->G 8 26265907 26265907 A G snp 694.77 0/1 99 76 45 31 0.41 intronic rs9644114 BNIP3L AU NM_004331 exon5 c.25246+15A>G 0.197085 0.1746 0.238813 0.2671 0.1899 Uncertain 8_26363027_C->T 8 26363027 26363027 C T snp 1730.77 1/1 99 47 0 47 1.0 UTR3 rs2197181 PNMA2 AU 0.324081 0.6637 Uncertain 8_26481771_T->C 8 26481771 26481771 T C snp 2521.77 1/1 99 93 0 93 1.0 exonic rs327222 DPYSL2 AU synonymous SNV NM_001386 exon4 c.T426C p.S142S 0.936701 0.9266 0.959942 0.9704 0.9058 Uncertain 8_26483999_ACACAC->- 8 26483999 26484004 ACACAC - indel 797.73 ./1 99 17 1 16 0.94 intronic rs58931747 DPYSL2 AU NM_001386 exon5 c.48362-133_48362-128delACACAC 0.905351 0.9345 Uncertain 8_26483999_AC->- 8 26483999 26484000 AC - indel 797.73 ./1 99 17 1 16 0.94 intronic rs59641981 DPYSL2 AU NM_001386 exon5 c.48362-133_48362-132delAC Uncertain 8_26484064_T->G 8 26484064 26484064 T G snp 1817.77 0/1 99 129 56 73 0.57 intronic rs4872457 DPYSL2 AU NM_001386 exon5 c.48362-68T>G 0.444688 0.6935 0.490583 Uncertain 8_26492560_C->A 8 26492560 26492560 C A snp 73.77 0/1 99 10 6 4 0.4 intronic rs1867042 DPYSL2 AU NM_001386 exon8 c.56646+144C>A 0.561701 0.6935 Uncertain 8_26614516_C->G 8 26614516 26614516 C G snp 4482.77 1/1 99 154 0 154 1.0 intergenic rs7825488 DPYSL2 AU 0.105831 0.2312 Uncertain 8_26614707_T->- 8 26614707 26614707 T - indel 5484.73 1/1 99 179 0 179 1.0 intergenic rs11309325 DPYSL2 AU 0.601038 0.8492 Uncertain 8_26623477_-->TTGTGAAAAGAAA 8 26623477 26623477 - TTGTGAAAAGAAA indel 4819.73 0/1 99 83 50 33 0.4 intergenic rs34651910 DPYSL2 AU 0.639976 0.8929 Uncertain 8_26628028_A->G 8 26628028 26628028 A G snp 2956.77 0/1 99 245 121 124 0.51 exonic rs1048101 ADRA1A AU nonsynonymous SNV NM_000680 exon2 c.T1039C p.C347R 0.648163 0.8929 0.545056 0.5190 0.9084 0.93 T 1.000 P -0.978 T 0.0 T 0.0 T ID=CM064954;DIS=Hypertension, association with;TAG=DP;PUB=16685204 DP Pathogenic 8_26636906_T->A 8 26636906 26636906 T A snp 1365.77 0/1 99 136 78 58 0.43 intronic rs60593443 ADRA1A AU NM_000680 exon1 c.518+8723T>A 0.24361 0.4563 0.1759 0.455 0.02 T 0.0 P -0.925 T Uncertain 8_26636925_T->C 8 26636925 26636925 T C snp 1212.77 0/1 99 120 70 50 0.42 intronic rs6989854 ADRA1A AU NM_000680 exon1 c.518+8742T>C 0.64377 0.8938 0.5241 0.9343 Uncertain 8_26716472_A->G 8 26716472 26716472 A G snp 2132.77 1/1 99 65 0 65 1.0 intronic rs536401 ADRA1A AU NM_000680 exon2 c.93938-5131A>G 0.859824 0.9087 Uncertain 8_26906434_TAAAG->- 8 26906434 26906438 TAAAG - indel 2841.73 0/1 99 88 46 42 0.48 intergenic rs150141473 ADRA1A AU 0.139177 0.1141 0.107800 0.1719 0.0908 Uncertain 8_26943632_C->T 8 26943632 26943632 C T snp 1104.77 0/1 99 94 47 47 0.5 intergenic rs935408 ADRA1A AU 0.483227 0.5575 Uncertain 8_26943929_T->C 8 26943929 26943929 T C snp 719.77 1/1 54 21 0 21 1.0 intergenic rs1814489 ADRA1A AU Uncertain 8_26944600_A->G 8 26944600 26944600 A G snp 2986.77 1/1 99 106 0 106 1.0 intergenic rs2028908 ADRA1A AU 0.952875 1 Uncertain 8_26944966_C->T 8 26944966 26944966 C T snp 46.77 0/1 33 3 1 2 0.67 intergenic rs2028909 ADRA1A AU 0.264577 0.2361 Uncertain 8_27094548_A->G 8 27094548 27094548 A G snp 1774.77 1/1 99 61 0 61 1.0 intronic rs10217008 STMN4 AU NM_030795 exon1 c.60+126A>G 0.939097 0.9633 Uncertain 8_27094615_G->T 8 27094615 27094615 G T snp 125.77 0/1 99 19 14 5 0.26 intronic rs79091127 STMN4 AU NM_030795 exon1 c.60+193G>T 0.0844649 0.1974 Uncertain 8_27099879_C->T 8 27099879 27099879 C T snp 885.77 0/1 99 69 34 35 0.51 intronic rs3739212 STMN4 AU NM_001283053 exon6 c.3138-34C>T 0.391374 0.4206 0.450484 0.4561 0.4366 Uncertain 8_27101204_T->A 8 27101204 27101204 T A snp 1184.77 0/1 99 127 74 53 0.42 intronic rs4733040 STMN4 AU NM_001283053 exon7 c.4452-23T>A 0.722843 0.8819 0.711518 0.7418 0.8905 Uncertain 8_27101206_A->C 8 27101206 27101206 A C snp 1191.77 0/1 99 127 74 53 0.42 intronic rs7830662 STMN4 AU NM_001283053 exon7 c.4452-21A>C 0.722843 0.8819 0.711287 0.7419 0.8905 Uncertain 8_27204663_A->G 8 27204663 27204663 A G snp 672.77 0/1 99 40 16 24 0.6 intronic rs2874826 PTK2B AU 0.696486 0.379 Uncertain 8_27204857_A->G 8 27204857 27204857 A G snp 648.77 0/1 99 68 40 28 0.41 intronic rs4629818 PTK2B AU 0.713658 0.4177 Uncertain 8_27205047_G->- 8 27205047 27205047 G - indel 1312.73 0/1 99 72 35 37 0.51 intronic rs57735330 PTK2B AU 0.391573 0.2579 Uncertain 8_27277537_G->A 8 27277537 27277537 G A snp 1058.77 0/1 99 95 48 47 0.49 exonic rs1030526 PTK2B AU synonymous SNV NM_004103 exon4 c.G330A p.T110T 0.386581 0.2718 0.411425 0.3983 0.2721 Uncertain 8_27279705_G->A 8 27279705 27279705 G A snp 721.77 0/1 99 70 37 33 0.47 intronic rs2241652 PTK2B AU NM_173175 exon5 c.24719-115G>A 0.763179 0.5506 Uncertain 8_27288033_T->C 8 27288033 27288033 T C snp 430.77 0/1 99 41 25 16 0.39 intronic rs7827965 PTK2B AU NM_173175 exon7 c.32834+98T>C 0.444489 0.2698 Uncertain 8_27289612_C->T 8 27289612 27289612 C T snp 315.77 0/1 99 28 16 12 0.43 intronic rs11988406 PTK2B AU NM_173175 exon10 c.34675-164C>T 0.440296 0.256 Uncertain 8_27289935_T->C 8 27289935 27289935 T C snp 637.77 0/1 99 39 18 21 0.54 intronic rs2303881 PTK2B AU NM_173175 exon10 c.34777+57T>C 0.440096 0.256 Uncertain 8_27289963_T->C 8 27289963 27289963 T C snp 249.77 0/1 99 19 11 8 0.42 intronic rs2303882 PTK2B AU NM_173175 exon10 c.34777+85T>C 0.440495 0.2569 Uncertain 8_27291557_T->C 8 27291557 27291557 T C snp 1015.77 0/1 99 90 47 43 0.48 intronic rs919493 PTK2B AU NM_173175 exon12 c.36508-52T>C 0.767772 0.5585 0.846255 Uncertain 8_27292287_A->G 8 27292287 27292287 A G snp 307.77 0/1 99 27 14 13 0.48 intronic rs1896959 PTK2B AU NM_173175 exon13 c.36975+211A>G 0.767772 0.5585 Uncertain 8_27292292_A->G 8 27292292 27292292 A G snp 310.77 0/1 99 27 14 13 0.48 intronic rs1896960 PTK2B AU NM_173175 exon13 c.36975+216A>G 0.440895 0.256 Uncertain 8_27294532_C->G 8 27294532 27294532 C G snp 480.77 0/1 99 32 14 18 0.56 intronic rs2163176 PTK2B AU NM_173175 exon16 c.39537-106C>G 0.795527 0.5476 Uncertain 8_27294823_T->C 8 27294823 27294823 T C snp 1763.77 0/1 99 147 76 71 0.48 intronic rs6996922 PTK2B AU NM_173175 exon17 c.39811-89T>C 0.795527 0.5476 Uncertain 8_27295109_A->G 8 27295109 27295109 A G snp 238.77 0/1 99 18 10 8 0.44 intronic rs2288617 PTK2B AU NM_173175 exon17 c.39912+96A>G 0.797524 0.5575 Uncertain 8_27297696_T->C 8 27297696 27297696 T C snp 744.77 0/1 99 63 35 28 0.44 intronic rs2241657 PTK2B AU NM_173175 exon21 c.42652-57T>C 0.802915 0.5585 Uncertain 8_27303126_A->G 8 27303126 27303126 A G snp 246.77 0/1 99 22 14 8 0.36 intronic rs4733064 PTK2B AU NM_173176 exon24 c.48209-184A>G 0.796326 0.5575 Uncertain 8_27308585_A->C 8 27308585 27308585 A C snp 979.77 0/1 99 100 60 40 0.4 exonic rs751019 PTK2B AU nonsynonymous SNV NM_004103 exon27 c.A2513C p.K838T 0.364617 0.3601 0.402430 0.4370 0.3453 0.27 T 0.130 P -0.955 T 0.014 T 0.003 T Pathogenic 8_27308849_A->G 8 27308849 27308849 A G snp 137.77 0/1 99 17 10 7 0.41 intronic rs2251430 PTK2B AU NM_173175 exon26 c.53900-152A>G 0.793131 0.5466 Uncertain 8_27310546_A->G 8 27310546 27310546 A G snp 106.77 0/1 99 12 7 5 0.42 intronic rs3735758 PTK2B AU NM_173175 exon27 c.55529-84A>G 0.794529 0.5466 Uncertain 8_27311703_T->C 8 27311703 27311703 T C snp 1299.77 0/1 99 81 28 53 0.65 exonic rs1879184 PTK2B AU synonymous SNV NM_004103 exon30 c.T2628C p.T876T 0.797724 0.5565 0.872136 0.8359 0.5318 Uncertain 8_27312307_G->A 8 27312307 27312307 G A snp 224.77 0/1 99 15 8 7 0.47 intronic rs2280377 PTK2B AU NM_173175 exon29 c.57027+179G>A 0.0445288 0.1835 Uncertain 8_27315726_T->C 8 27315726 27315726 T C snp 419.77 0/1 99 28 12 16 0.57 intronic rs1879183 PTK2B AU NM_173175 exon30 c.60709-84T>C 0.794329 0.5456 Uncertain 8_27315876_A->G 8 27315876 27315876 A G snp 1076.77 0/1 99 99 52 47 0.47 exonic rs1879182 PTK2B AU synonymous SNV NM_004103 exon32 c.A2880G p.A960A 0.795128 0.5556 0.869214 0.8338 0.5247 Uncertain 8_27315900_A->G 8 27315900 27315900 A G snp 1065.77 0/1 99 94 52 42 0.45 exonic rs1879181 PTK2B AU synonymous SNV NM_004103 exon32 c.A2904G p.L968L 0.791534 0.5556 0.866984 0.8334 0.5265 Uncertain 8_27321597_G->C 8 27321597 27321597 G C snp 384.77 0/1 99 22 8 14 0.64 intronic rs3735757 CHRNA2 AD NM_001282455 exon2 c.2365+87G>C 0.760383 0.5744 Uncertain 8_27324822_T->C 8 27324822 27324822 T C snp 1154.77 0/1 99 113 60 53 0.47 exonic rs891398 CHRNA2 AD nonsynonymous SNV NM_000742 exon5 c.A373G p.T125A 0.610224 0.6498 0.580117 0.5311 0.6506 0.77 T 0.0 P -0.957 T 0.0 T 0.0 T CLINSIG=non-pathogenic;CLNDBN=not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000124271.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 ID=CM144682;DIS=Nicotine dependence, association with;TAG=DP;PUB=24253422 DP Pathogenic 8_27324844_G->A 8 27324844 27324844 G A snp 914.77 0/1 99 88 48 40 0.45 exonic rs2565061 CHRNA2 AD synonymous SNV NM_000742 exon5 c.C351T p.D117D 0.237819 0.4177 0.167154 0.1701 0.4387 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000116711.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 8_27326839_GG->- 8 27326839 27326840 GG - indel 4201.73 0/1 99 198 96 102 0.52 intronic rs139680977 CHRNA2 AD NM_001282455 exon4 c.7706-12_7706-11delGG 0.507987 0.6379 0.459409 0.4532 0.6051 Uncertain 8_27328354_G->C 8 27328354 27328354 G C snp 776.77 1/1 57 24 0 24 1.0 intronic rs2472554 CHRNA2 AD NM_001282455 exon6 c.9357-148G>C 0.784545 0.7917 Uncertain 8_27328511_G->A 8 27328511 27328511 G A snp 2695.77 0/1 99 223 101 122 0.55 exonic rs2472553 CHRNA2 AD nonsynonymous SNV NM_000742 exon2 c.C65T p.T22I 0.221046 0.4325 0.148777 0.1647 0.4493 1 T 0.0 P -0.974 T 0.0 T 0.0 T CLINSIG=probable-non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=no_assertion_criteria_provided|criteria_provided\x2c_single_submitter;CLNACC=RCV000116713.2|RCV000124280.1;CLNDSDB=MedGen|MedGen;CLNDSDBID=CN169374|CN221809 ID=CM0911425;DIS=Nicotine dependence, association with;TAG=DFP;PUB=19307444 DFP Pathogenic 8_27358287_C->T 8 27358287 27358287 C T snp 927.77 0/1 99 85 50 35 0.41 intronic rs72474002 EPHX2 AD NM_001979 exon2 c.9717-155C>T 0.028754 0.1002 Uncertain 8_27369334_A->G 8 27369334 27369334 A G snp 1374.77 0/1 99 127 70 57 0.45 intronic rs7816586 EPHX2 AD NM_001256483 exon5 c.8220-18A>G 0.680911 0.6042 0.685068 0.5842 0.5652 Uncertain 8_27373923_T->C 8 27373923 27373923 T C snp 571.77 0/1 99 48 22 26 0.54 intronic rs4149243 EPHX2 AD NM_001256483 exon7 c.12783+8T>C 0.299321 0.1567 0.302014 0.1916 0.1333 Uncertain 8_27378633_T->C 8 27378633 27378633 T C snp 48.74 1/1 6 2 0 2 1.0 intronic rs4149245 EPHX2 AD NM_001256483 exon9 c.17294+207T>C 0.34365 0.1895 Uncertain 8_27396111_G->T 8 27396111 27396111 G T snp 1415.77 0/1 99 135 77 58 0.43 intronic rs4149252 EPHX2 AD NM_001256483 exon13 c.35043-64G>T 0.261182 0.1944 0.238283 Uncertain 8_27396208_G->A 8 27396208 27396208 G A snp 2338.77 0/1 99 240 133 107 0.45 exonic rs4149253 EPHX2 AD synonymous SNV NM_001979 exon14 c.G1275A p.A425A 0.113618 0.1746 0.073274 0.0780 0.1643 Uncertain 8_27456253_T->C 8 27456253 27456253 T C snp 843.77 1/1 63 26 0 26 1.0 intronic rs2279590 CLU AU NM_001831 exon2 c.395+101T>C 0.759385 0.7887 Uncertain 8_27462481_A->G 8 27462481 27462481 A G snp 3164.77 1/1 99 126 1 125 0.99 exonic rs7982 CLU AU synonymous SNV NM_001831 exon5 c.T789C p.H263H 0.664537 0.7887 0.597878 0.6357 0.7831 0.000 P ID=CM057431;DIS=Preeclampsia and essential hypertension, association with;TAG=DP;PUB=15925890 DP Uncertain 8_27466315_T->C 8 27466315 27466315 T C snp 130.03 1/1 12 4 0 4 1.0 intronic rs1532278 CLU AU NM_001831 exon7 c.10697-139T>C 0.736422 0.7817 Uncertain 8_27467821_C->G 8 27467821 27467821 C G snp 1243.77 1/1 93 33 0 33 1.0 intronic rs2070926 CLU AU NM_001831 exon8 c.12234-170C>G 0.764776 0.7907 Uncertain 8_27491654_C->G 8 27491654 27491654 C G snp 626.77 0/1 99 74 42 32 0.43 UTR5 rs472707 SCARA3 AU 0.20647 0.2282 Uncertain 8_27507374_C->T 8 27507374 27507374 C T snp 1845.77 0/1 99 145 63 82 0.57 intronic rs482078 SCARA3 AU NM_182826 exon2 c.15600+57C>T 0.190296 0.1875 Uncertain 8_27509153_G->A 8 27509153 27509153 G A snp 998.77 0/1 99 96 53 43 0.45 intronic rs2246847 SCARA3 AU NM_182826 exon3 c.17427+9G>A 0.197484 0.1875 0.187990 0.2315 0.1702 Uncertain 8_27514546_C->T 8 27514546 27514546 C T snp 36.77 0/1 65 5 3 2 0.4 intronic rs473266 SCARA3 AU NM_182826 exon4 c.22680+149C>T 0.358626 0.4812 Uncertain 8_27516955_G->A 8 27516955 27516955 G A snp 2715.77 0/1 99 221 110 111 0.5 exonic rs3735754 SCARA3 AU nonsynonymous SNV NM_016240 exon5 c.G1268A p.R423Q 0.0317492 0.1369 0.001000 0.0130 0.1205 0.1 T 0.997 D -0.893 T 0.681 T 0.102 P Pathogenic 8_27533884_T->C 8 27533884 27533884 T C snp 397.77 0/1 99 36 22 14 0.39 intronic rs185906719 SCARA3 AU NM_182826 exon6 c.42368-201T>C 0.00499201 0.0228 Uncertain 8_27559214_G->A 8 27559214 27559214 G A snp 495.77 0/1 99 28 9 19 0.68 ncRNA_exonic rs66683138 MIR3622A AU 0.295927 0.4246 0.5920 0.625 Uncertain 8_27593650_T->C 8 27593650 27593650 T C snp 137.77 0/1 99 22 14 8 0.36 UTR3 rs10081527 CCDC25 AU 0.84345 0.7718 0.878396 Uncertain 8_27598172_A->G 8 27598172 27598172 A G snp 155.77 0/1 99 12 6 6 0.5 intronic rs7842672 CCDC25 AU NM_018246 exon2 c.4302+138A>G 0.823882 0.745 Uncertain 8_27609817_G->C 8 27609817 27609817 G C snp 333.77 0/1 99 19 9 10 0.53 intronic rs4732743 CCDC25 AU NM_018246 exon5 c.16296-211G>C 0.824281 0.744 Uncertain 8_27609830_A->G 8 27609830 27609830 A G snp 531.77 0/1 99 32 14 18 0.56 intronic rs4732744 CCDC25 AU NM_018246 exon5 c.16296-198A>G 0.824281 0.744 Uncertain 8_27614137_C->T 8 27614137 27614137 C T snp 152.77 0/1 99 11 6 5 0.45 intronic rs12543169 CCDC25 AU NM_018246 exon6 c.20503-98C>T 0.00978435 0.0407 Uncertain 8_27614138_A->G 8 27614138 27614138 A G snp 150.77 0/1 99 11 6 5 0.45 intronic rs2280884 CCDC25 AU NM_018246 exon6 c.20503-97A>G 0.482428 0.6151 Uncertain 8_27630152_G->A 8 27630152 27630152 G A snp 897.77 1/1 66 32 0 32 1.0 UTR5 rs7842666 CCDC25 AU 0.63738 0.8571 Uncertain 8_27634064_C->T 8 27634064 27634064 C T snp 1755.77 0/1 99 171 93 78 0.46 exonic rs4732748 ESCO2 AR nonsynonymous SNV NM_001017420 exon3 c.C239T p.A80V 0.139377 0.244 0.098724 0.1148 0.2469 0.51 T 0.017 P -1.060 T 0.023 T 0.018 T CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=Roberts-SC_phocomelia_syndrome|not_specified;CLNREVSTAT=no_assertion_criteria_provided|criteria_provided\x2c_single_submitter;CLNACC=RCV000020402.1|RCV000145966.1;CLNDSDB=GeneReviews:MedGen:OMIM:OMIM:Orphanet:SNOMED_CT|MedGen;CLNDSDBID=NBK1153:C0392475:268300:269000:ORPHA3103:48718006|CN169374 Pathogenic 8_27641609_G->A 8 27641609 27641609 G A snp 2682.77 1/1 99 97 0 97 1.0 intronic rs1824449 ESCO2 AR NM_001017420 exon5 c.8543+35G>A 0.977835 1 0.976007 0.9933 1 Uncertain 8_27641707_ATTG->- 8 27641707 27641710 ATTG - indel 629.73 0/1 99 20 9 11 0.55 intronic rs10553021 ESCO2 AR NM_001017420 exon5 c.8543+133_8543+136delATTG 0.452476 0.6171 Uncertain 8_27645704_C->T 8 27645704 27645704 C T snp 1607.77 1/1 99 44 0 44 1.0 intronic rs6558014 ESCO2 AR NM_001017420 exon6 c.12488+185C>T 0.89397 1 Uncertain 8_27649359_TCT->- 8 27649359 27649361 TCT - indel 269.73 0/1 99 10 4 6 0.6 intronic rs35880563 ESCO2 AR NM_001017420 exon8 c.16448-120_16448-118delTCT 0.198482 0.3343 Uncertain 8_27649426_-->T 8 27649426 27649426 - T indel 718.73 0/1 99 100 63 37 0.37 intronic rs11402833 ESCO2 AR NM_001017420 exon8 c.16448-53insT 0.466853 0.62 0.405431 Uncertain 8_27650428_C->T 8 27650428 27650428 C T snp 451.77 0/1 99 32 17 15 0.47 intronic rs4732754 ESCO2 AR NM_001017420 exon9 c.17297+100C>T 0.419329 0.3829 Uncertain 8_27661030_-->AATA 8 27661030 27661030 - AATA indel 588.73 0/1 99 27 9 18 0.67 UTR3 rs139887923 ESCO2 AR Uncertain 8_27661085_G->A 8 27661085 27661085 G A snp 37.77 0/1 66 4 2 2 0.5 UTR3 rs62498042 ESCO2 AR 0.497005 0.5169 Uncertain 8_27665848_C->T 8 27665848 27665848 C T snp 912.77 0/1 99 80 41 39 0.49 intergenic rs10101429 ESCO2 AR 0.222843 0.3611 Uncertain 8_27667719_C->G 8 27667719 27667719 C G snp 560.77 0/1 99 46 25 21 0.46 UTR3 rs1052874 PBK AU 0.222843 0.3611 Uncertain 8_27667969_C->G 8 27667969 27667969 C G snp 1442.77 0/1 99 108 54 54 0.5 exonic rs2294092 PBK AU synonymous SNV NM_001278945 exon8 c.G855C p.A285A 0.419329 0.3829 0.435722 0.4288 0.3991 Uncertain 8_27679981_T->C 8 27679981 27679981 T C snp 1102.77 0/1 99 128 77 51 0.4 exonic rs3779620 PBK AU nonsynonymous SNV NM_001278945 exon5 c.A320G p.N107S 0.222843 0.3611 0.151315 0.1467 0.3844 0.61 T 0.000 P -0.907 T 0.0 T 0.001 T Pathogenic 8_27680576_G->T 8 27680576 27680576 G T snp 353.77 0/1 99 50 31 19 0.38 splicing rs727813 PBK AU NM_018492 exon5 c.12758-3G>T 0.416933 0.38 0.431913 0.4250 0.3929 Pathogenic 8_27680809_T->A 8 27680809 27680809 T A snp 112.77 0/1 99 9 4 5 0.56 intronic rs3779619 PBK AU NM_018492 exon5 c.12901+87T>A 0.222843 0.3611 Uncertain 8_27690557_A->C 8 27690557 27690557 A C snp 736.77 0/1 99 53 23 30 0.57 intronic rs10113621 PBK AU NM_018492 exon7 c.22751-15A>C 0.222843 0.3611 0.150946 0.1742 0.4081 Uncertain 8_27729532_G->A 8 27729532 27729532 G A snp 2892.77 0/1 99 250 125 125 0.5 exonic rs61737291 SCARA5 AU synonymous SNV NM_173833 exon9 c.C1407T p.I469I 0.152157 0.245 0.119253 0.1327 0.2340 Uncertain 8_27729713_G->A 8 27729713 27729713 G A snp 514.77 0/1 99 58 39 19 0.33 intronic rs11776426 SCARA5 AU NM_173833 exon1 c.137+126G>A 0.473442 0.5724 Uncertain 8_27737198_A->G 8 27737198 27737198 A G snp 7066.77 1/1 99 250 0 250 1.0 exonic rs4732610 SCARA5 AU synonymous SNV NM_173833 exon8 c.T1239C p.R413R 0.839257 0.7887 0.867984 0.8630 0.8025 Uncertain 8_27743401_T->G 8 27743401 27743401 T G snp 505.77 0/1 99 44 23 21 0.48 intronic rs2726928 SCARA5 AU NM_173833 exon2 c.7833+6118T>G 0.423522 0.2788 Uncertain 8_27743535_T->C 8 27743535 27743535 T C snp 3019.77 1/1 99 110 0 110 1.0 intronic rs2685381 SCARA5 AU NM_173833 exon2 c.7833+6252T>C 0.9377 1 0.9555 1 Uncertain 8_27762235_T->C 8 27762235 27762235 T C snp 460.77 0/1 99 33 13 20 0.61 intronic rs2726984 SCARA5 AU NM_173833 exon3 c.32844-59T>C 0.513379 0.4514 0.573149 0.5802 0.4470 Uncertain 8_27762537_A->G 8 27762537 27762537 A G snp 238.84 0/1 18 9 1 8 0.89 intronic rs939706 SCARA5 AU NM_173833 exon3 c.32901+186A>G 0.952875 1 Uncertain 8_27764576_G->A 8 27764576 27764576 G A snp 2227.77 0/1 99 162 77 85 0.52 intronic rs7826640 SCARA5 AU NM_173833 exon4 c.35214-88G>A 0.200879 0.374 Uncertain 8_27764627_T->C 8 27764627 27764627 T C snp 6579.77 1/1 99 250 1 249 1.0 intronic rs2726987 SCARA5 AU NM_173833 exon4 c.35214-37T>C 0.735224 0.8413 0.728279 0.7296 0.8254 Uncertain 8_27767066_G->A 8 27767066 27767066 G A snp 590.77 0/1 99 57 30 27 0.47 intronic rs17058204 SCARA5 AU NM_173833 exon5 c.37729-113G>A 0.183506 0.376 Uncertain 8_27767171_G->A 8 27767171 27767171 G A snp 1294.77 0/1 99 90 35 55 0.61 intronic rs2726991 SCARA5 AU NM_173833 exon5 c.37729-8G>A 0.51258 0.4573 0.593838 0.5876 0.4755 Uncertain 8_27767231_C->G 8 27767231 27767231 C G snp 597.77 0/1 99 63 40 23 0.37 exonic rs17058207 SCARA5 AU nonsynonymous SNV NM_173833 exon5 c.G946C p.D316H 0.183307 0.376 0.098919 0.1406 0.3670 0.61 T 0.0 P -1.092 T 0.0 T 0.003 T Pathogenic 8_27767276_C->A 8 27767276 27767276 C A snp 473.77 0/1 99 45 24 21 0.47 intronic rs58646328 SCARA5 AU NM_173833 exon5 c.37810+16C>A 0.13139 0.374 0.055220 0.1067 0.3662 Uncertain 8_27767305_A->G 8 27767305 27767305 A G snp 481.77 0/1 99 39 21 18 0.46 intronic rs2726992 SCARA5 AU NM_173833 exon5 c.37810+45A>G 0.517173 0.4593 0.599118 0.5884 0.4784 Uncertain 8_27767339_C->T 8 27767339 27767339 C T snp 352.77 0/1 99 27 14 13 0.48 intronic rs2726993 SCARA5 AU NM_173833 exon5 c.37810+79C>T 0.516973 0.4583 Uncertain 8_27779545_C->T 8 27779545 27779545 C T snp 1951.77 0/1 99 159 81 78 0.49 exonic rs10103504 SCARA5 AU synonymous SNV NM_173833 exon4 c.G459A p.L153L 0.570487 0.5843 0.572197 0.6844 0.6591 Uncertain 8_27779811_C->T 8 27779811 27779811 C T snp 1523.77 0/1 99 118 54 64 0.54 intronic rs4732613 SCARA5 AU NM_173833 exon6 c.50312+49C>T 0.625599 0.6528 0.596070 0.6659 0.6572 Uncertain 8_27779880_-->A 8 27779880 27779880 - A indel 343.73 0/1 99 21 6 15 0.71 intronic rs397726044 SCARA5 AU NM_173833 exon6 c.50312+118insA 0.624601 0.6538 Uncertain 8_27779885_T->G 8 27779885 27779885 T G snp 309.77 0/1 99 18 6 12 0.67 intronic rs59195507 SCARA5 AU NM_173833 exon6 c.50312+123T>G 0.624601 0.6538 Uncertain 8_27823832_G->A 8 27823832 27823832 G A snp 43.77 0/1 72 8 5 3 0.38 intronic rs11780263 SCARA5 AU NM_173833 exon7 c.94480-98G>A 0.246206 0.4276 Uncertain 8_27824165_T->G 8 27824165 27824165 T G snp 321.77 0/1 56 16 5 11 0.69 intronic rs73568976 SCARA5 AU NM_173833 exon7 c.94609+106T>G 0.233027 0.4276 Uncertain 8_27887722_G->C 8 27887722 27887722 G C snp 212.84 1/1 18 6 0 6 1.0 intronic rs7829031 NUGGC AU NM_001010906 exon4 c.6993-104G>C 0.824081 0.8929 Uncertain 8_27898452_A->G 8 27898452 27898452 A G snp 444.77 0/1 99 26 11 15 0.58 intronic rs12675621 NUGGC AU NM_001010906 exon7 c.17734-115A>G 0.448882 0.4643 Uncertain 8_27903069_C->T 8 27903069 27903069 C T snp 69.77 0/1 98 12 9 3 0.25 exonic rs13279787 NUGGC AU nonsynonymous SNV NM_001010906 exon12 c.G1421A p.S474N 0.378195 0.4375 0.312262 0.3412 0.4579 0.39 T 0.010 P -0.901 T 0.001 T 0.001 T Pathogenic 8_27913365_T->A 8 27913365 27913365 T A snp 56.74 1/1 6 2 0 2 1.0 intronic rs7819220 NUGGC AU NM_001010906 exon10 c.32648-116T>A 0.291933 0.4196 Uncertain 8_27915830_T->C 8 27915830 27915830 T C snp 2595.77 1/1 99 98 0 98 1.0 intronic rs4336563 NUGGC AU NM_001010906 exon11 c.34960+37T>C 0.98742 1 0.986171 0.9939 1 Uncertain 8_27918057_T->C 8 27918057 27918057 T C snp 2703.77 1/1 99 94 0 94 1.0 exonic rs7817227 NUGGC AU nonsynonymous SNV NM_001010906 exon8 c.A983G p.Q328R 0.965655 1 0.963296 0.9900 1 0.46 T 0.0 P -0.956 T 0.0 T 0.0 T Pathogenic 8_27927849_C->G 8 27927849 27927849 C G snp 1428.77 1/1 99 54 0 54 1.0 exonic rs6998705 NUGGC AU nonsynonymous SNV NM_001010906 exon3 c.G68C p.R23P 0.963658 1 0.965829 0.9877 1 1 T 0.000 P -0.937 T 0.0 T 0.0 T Pathogenic 8_27957529_C->T 8 27957529 27957529 C T snp 1982.77 1/1 99 69 0 69 1.0 intronic rs2290370 ELP3 AU NM_001284222 exon3 c.2725+46C>T 0.177117 0.3075 0.111179 0.1336 0.3065 Uncertain 8_27957556_G->A 8 27957556 27957556 G A snp 1467.77 1/1 99 47 0 47 1.0 intronic rs2290369 ELP3 AU NM_001284222 exon3 c.2725+73G>A 0.561502 0.5893 Uncertain 8_27964057_AAAAAAAAAAAAAAA->- 8 27964057 27964071 AAAAAAAAAAAAAAA - indel 1095.77 1/1 21 8 0 8 1.0 intronic rs61714722 ELP3 AU NM_001284222 exon4 c.9471-172_9471-158delAAAAAAAAAAAAAAA Uncertain 8_27967856_A->G 8 27967856 27967856 A G snp 4420.77 1/1 99 168 0 168 1.0 intronic rs3213997 ELP3 AU NM_001284222 exon6 c.13128-30A>G 0.63738 0.8919 0.495002 0.5430 0.8804 Uncertain 8_28013579_A->C 8 28013579 28013579 A C snp 4591.77 1/1 99 176 0 176 1.0 intronic rs4732832 ELP3 AU NM_001284222 exon11 c.58791+30A>C 0.647364 0.9028 0.516915 0.5776 0.8959 Uncertain 8_28016003_AATAAAG->- 8 28016003 28016009 AATAAAG - indel 1280.73 1/1 42 14 0 14 1.0 intronic rs149274779 ELP3 AU NM_001284222 exon12 c.61326-81_61326-75delAATAAAG 0.385184 0.6518 Uncertain 8_28016055_A->C 8 28016055 28016055 A C snp 117.77 0/1 99 49 34 15 0.31 intronic ELP3 AU NM_001284222 exon12 c.61326-29A>C Uncertain 8_28046961_T->A 8 28046961 28046961 T A snp 54.74 1/1 6 2 0 2 1.0 intronic rs6558045 ELP3 AU NM_001284222 exon15 c.92407-204T>A 0.993211 1 Uncertain 8_28196783_C->G 8 28196783 28196783 C G snp 2650.77 0/1 99 205 104 101 0.49 exonic rs76786693 PNOC AU nonsynonymous SNV NM_001284244 exon2 c.C161G p.A54G 0.0511182 0.121 0.000077 0.0226 0.1202 0.11 T 0.036 P -0.977 T 0.022 T 0.026 T Pathogenic 8_28210613_G->C 8 28210613 28210613 G C snp 694.77 1/1 51 19 0 19 1.0 intronic rs6558057 ZNF395 AU NM_018660 exon6 c.4454-76G>C 0.979832 1 Uncertain 8_28214096_T->C 8 28214096 28214096 T C snp 416.77 0/1 99 20 7 13 0.65 intronic rs2272749 ZNF395 AU NM_018660 exon7 c.7951-90T>C 0.267772 0.2768 Uncertain 8_28286071_T->C 8 28286071 28286071 T C snp 310.77 0/1 99 23 10 13 0.57 UTR3 rs11895 FBXO16 AU 0.242212 0.1994 0.2439 0.2634 Uncertain 8_28286174_T->G 8 28286174 28286174 T G snp 2409.77 1/1 99 93 0 93 1.0 UTR3 rs1055741 FBXO16 AU 0.710463 0.8185 0.6207 0.8428 1 T 0.000 P -0.989 T Uncertain 8_28286342_G->A 8 28286342 28286342 G A snp 420.77 0/1 99 38 19 19 0.5 intronic rs2270654 FBXO16 AU NM_001258211 exon1 c.10+89G>A 0.204273 0.1875 0.171266 Uncertain 8_28286885_C->T 8 28286885 28286885 C T snp 1609.77 0/1 99 101 31 70 0.69 intronic rs57374675 FBXO16 AU NM_001258211 exon2 c.651-9C>T 0.230431 0.1875 0.197447 0.1721 0.2130 Uncertain 8_28287025_C->T 8 28287025 28287025 C T snp 314.77 0/1 56 13 4 9 0.69 intronic rs12334678 FBXO16 AU NM_001258211 exon2 c.677+105C>T 0.204872 0.1875 Uncertain 8_28304769_C->T 8 28304769 28304769 C T snp 2587.77 1/1 99 103 0 103 1.0 exonic rs1390963 FBXO16 AU nonsynonymous SNV NM_001258211 exon6 c.G726A p.M242I 0.474641 0.5506 0.425265 0.4065 0.5539 0.38 T 1.0 P -0.937 T 0.002 T 0.005 T Pathogenic 8_28341058_A->G 8 28341058 28341058 A G snp 1403.77 1/1 99 42 0 42 1.0 intronic rs7843764 FBXO16 AU NM_001258211 exon7 c.54736+79A>G 0.757987 0.748 Uncertain 8_28362792_T->G 8 28362792 28362792 T G snp 990.77 0/1 99 80 41 39 0.49 intronic rs7833751 FZD3 AU NM_017412 exon3 c.189+2073T>G 0.532348 0.5714 Uncertain 8_28384712_A->G 8 28384712 28384712 A G snp 1709.77 0/1 99 146 75 71 0.49 exonic rs2241802 FZD3 AU synonymous SNV NM_017412 exon5 c.A435G p.L145L 0.542332 0.5675 0.519529 0.5690 0.5878 Uncertain 8_28574803_G->A 8 28574803 28574803 G A snp 3220.76 0/1 99 250 116 134 0.54 exonic rs240951 EXTL3 AU synonymous SNV NM_001440 exon3 c.G1227A p.P409P 0.26238 0.3472 0.243580 0.2721 0.3121 Uncertain 8_28600572_G->C 8 28600572 28600572 G C snp 2539.77 0/1 99 249 139 110 0.44 intronic rs2048369 EXTL3 AU NM_001440 exon6 c.27026-30G>C 0.224441 0.3472 0.212440 0.2542 0.3101 Uncertain 8_28633098_A->C 8 28633098 28633098 A C snp 34.77 0/1 63 7 5 2 0.29 intronic rs241203 INTS9 AU NM_001172562 exon4 c.7613-177A>C 0.340455 0.1825 Uncertain 8_28633124_T->C 8 28633124 28633124 T C snp 719.77 1/1 54 19 0 19 1.0 intronic rs7462400 INTS9 AU NM_001172562 exon4 c.7613-151T>C 1 1 Uncertain 8_28638223_C->T 8 28638223 28638223 C T snp 113.77 0/1 99 10 5 5 0.5 intronic rs241196 INTS9 AU NM_001172562 exon6 c.12677-116C>T 0.388379 0.1786 Uncertain 8_28645271_C->T 8 28645271 28645271 C T snp 944.77 0/1 99 86 45 41 0.48 intronic rs241187 INTS9 AU NM_001172562 exon7 c.19683-74C>T 0.383786 0.1756 Uncertain 8_28651298_A->C 8 28651298 28651298 A C snp 385.77 0/1 99 29 10 19 0.66 intronic rs2665911 INTS9 AU NM_001172562 exon8 c.25661-25A>C 0.363019 0.1667 0.527227 0.4841 0.2287 Uncertain 8_28651300_A->C 8 28651300 28651300 A C snp 449.77 0/1 99 31 10 21 0.68 intronic rs2665912 INTS9 AU NM_001172562 exon8 c.25661-23A>C 0.274161 0.1647 0.370866 0.3683 0.1927 Uncertain 8_28651558_ATAAAG->- 8 28651558 28651563 ATAAAG - indel 567.73 0/1 99 23 9 14 0.61 intronic rs11280356 INTS9 AU NM_001172562 exon8 c.25842+54_25842+59delATAAAG 0.254193 0.4623 Uncertain 8_28653928_A->G 8 28653928 28653928 A G snp 85.78 0/1 24 6 1 5 0.83 intronic rs3824092 INTS9 AU NM_001172562 exon9 c.28398-132A>G 0.264776 0.4653 Uncertain 8_28671247_T->G 8 28671247 28671247 T G snp 687.77 0/1 99 50 26 24 0.48 intronic rs7841719 INTS9 AU NM_001172562 exon11 c.45467+118T>G 0.251797 0.4663 Uncertain 8_28692783_C->T 8 28692783 28692783 C T snp 989.77 0/1 99 109 64 45 0.41 intronic rs28522383 INTS9 AU NM_001172562 exon12 c.67146-25C>T 0.410942 0.1796 0.538982 0.5591 0.2103 Uncertain 8_28695361_C->T 8 28695361 28695361 C T snp 733.77 0/1 99 60 29 31 0.52 intronic rs3735724 INTS9 AU NM_001172562 exon13 c.69631+68C>T 0.238219 0.4663 Uncertain 8_28707570_C->T 8 28707570 28707570 C T snp 137.77 0/1 99 12 6 6 0.5 intronic rs4732887 INTS9 AU NM_001172562 exon15 c.82067-159C>T 0.374002 0.2589 Uncertain 8_28827548_-->T 8 28827548 28827548 - T indel 483.73 0/1 99 71 45 26 0.37 intronic rs553430951 HMBOX1 AU NM_001135726 exon3 c.6175-11insT 0.000998403 0.004 0.0013 0.0101 Uncertain 8_28837835_C->T 8 28837835 28837835 C T snp 149.77 0/1 55 7 2 5 0.71 intronic rs186064703 HMBOX1 AU NM_001135726 exon4 c.16289+162C>T 0.00119808 0.006 Uncertain 8_28967679_C->T 8 28967679 28967679 C T snp 429.77 0/1 99 36 20 16 0.44 intronic rs3736225 KIF13B AU NM_015254 exon8 c.39567+92C>T 0.245407 0.2054 Uncertain 8_28970865_C->G 8 28970865 28970865 C G snp 44.77 0/1 33 3 1 2 0.67 intronic rs1466627 KIF13B AU NM_015254 exon9 c.42959-114C>G 0.331669 0.2063 Uncertain 8_28979949_C->A 8 28979949 28979949 C A snp 848.77 0/1 99 62 31 31 0.5 intronic rs4732905 KIF13B AU NM_015254 exon12 c.52087-158C>A 0.753395 0.4732 Uncertain 8_28984508_A->G 8 28984508 28984508 A G snp 110.77 0/1 64 6 2 4 0.67 intronic rs3763565 KIF13B AU NM_015254 exon16 c.56618-130A>G 0.210064 0.2361 Uncertain 8_28984572_G->A 8 28984572 28984572 G A snp 230.77 0/1 99 16 8 8 0.5 intronic rs3763566 KIF13B AU NM_015254 exon16 c.56618-66G>A 0.724241 0.4038 Uncertain 8_28989789_T->C 8 28989789 28989789 T C snp 787.77 0/1 99 41 10 31 0.76 intronic rs9644054 KIF13B AU NM_015254 exon18 c.61804-35T>C 0.164337 0.1657 0.130701 0.1881 0.1937 Uncertain 8_28997850_A->G 8 28997850 28997850 A G snp 161.77 0/1 99 21 14 7 0.33 intronic rs2279444 KIF13B AU NM_015254 exon21 c.69964-134A>G 0.226038 0.2371 Uncertain 8_28998179_A->G 8 28998179 28998179 A G snp 1216.77 0/1 99 75 30 45 0.6 intronic rs2246691 KIF13B AU NM_015254 exon21 c.70114+45A>G 0.209265 0.2371 0.155841 0.1936 0.2408 Uncertain 8_29005093_A->G 8 29005093 29005093 A G snp 2411.77 0/1 99 203 97 106 0.52 exonic rs6986672 KIF13B AU synonymous SNV NM_015254 exon17 c.T1840C p.L614L 0.732228 0.4117 0.850066 0.8140 0.4282 Uncertain 8_29005143_A->G 8 29005143 29005143 A G snp 1591.77 0/1 99 128 60 68 0.53 intronic rs6986829 KIF13B AU NM_015254 exon24 c.77099+24A>G 0.236022 0.2341 0.181582 0.2201 0.2492 Uncertain 8_29006063_T->C 8 29006063 29006063 T C snp 423.77 0/1 99 18 5 13 0.72 intronic rs34477845 KIF13B AU NM_015254 exon25 c.78073-30T>C 0.237819 0.2341 0.177259 0.2645 0.3328 Uncertain 8_29033422_C->T 8 29033422 29033422 C T snp 378.77 0/1 99 22 10 12 0.55 intronic rs6558098 KIF13B AU NM_015254 exon31 c.105564-162C>T 0.798922 0.3998 Uncertain 8_29035143_GT->- 8 29035143 29035144 GT - indel 715.73 0/1 99 33 12 21 0.64 intronic rs370374583 KIF13B AU NM_015254 exon32 c.107075+48_107075+49delGT 0.000998403 0.005 0.000433 0.0007 0.0086 Uncertain 8_29053762_A->- 8 29053762 29053762 A - indel 423.73 0/1 99 54 17 37 0.69 intronic rs34237413 KIF13B AU NM_015254 exon38 c.125696+46delA 0.705671 0.4315 0.4978 0.4593 Uncertain 8_29107388_G->A 8 29107388 29107388 G A snp 768.77 0/1 99 59 30 29 0.49 intronic rs2954794 KIF13B AU NM_015254 exon39 c.174936+4432G>A 0.948482 0.9147 Uncertain 8_29886373_G->A 8 29886373 29886373 G A snp 242.77 0/1 99 20 12 8 0.4 intergenic rs10105971 MIR3148 AU 0.238818 0.2976 Uncertain 8_29886613_T->C 8 29886613 29886613 T C snp 661.77 0/1 99 46 18 28 0.61 intergenic rs10098255 MIR3148 AU 0.241014 0.2976 Uncertain 8_29923732_G->A 8 29923732 29923732 G A snp 847.77 1/1 63 28 0 28 1.0 ncRNA_intronic rs2271367 MIR548O2 AU 0.690495 0.6528 Uncertain 8_29927300_C->G 8 29927300 29927300 C G snp 2136.77 1/1 99 76 0 76 1.0 exonic rs6468093 SARAF AU synonymous SNV NM_001284239 exon2 c.G42C p.A14A 0.978235 1 0.983239 0.9944 1 1.000 P -1.000 T Likely benign 8_29927321_A->G 8 29927321 29927321 A G snp 2535.77 1/1 99 92 0 92 1.0 exonic rs6468094 SARAF AU synonymous SNV NM_001284239 exon2 c.T21C p.I7I 0.973642 1 0.977933 0.9930 1 0.997 P -1.091 T Likely benign 8_29931375_T->C 8 29931375 29931375 T C snp 3421.77 1/1 99 124 0 124 1.0 ncRNA_intronic rs986636 MIR548O2 AU 0.974441 1 0.978702 0.9934 1 Uncertain 8_29935697_A->- 8 29935697 29935697 A - indel 265.8 0/1 18 18 3 15 0.83 ncRNA_intronic rs71204259 MIR548O2 AU 0.707468 0.7262 0.5199 0.5 Uncertain 8_29940271_A->G 8 29940271 29940271 A G snp 227.84 1/1 18 8 0 8 1.0 ncRNA_intronic rs13279112 MIR548O2 AU 0.974441 1 Uncertain 8_29953256_C->T 8 29953256 29953256 C T snp 989.77 1/1 72 31 0 31 1.0 ncRNA_intronic rs56969689 MIR548O2 AU 0.705072 0.7034 Uncertain 8_29989399_G->A 8 29989399 29989399 G A snp 2049.77 1/1 99 60 0 60 1.0 ncRNA_intronic rs13272159 MIR548O2 AU 0.31889 0.2272 Uncertain 8_29989564_A->G 8 29989564 29989564 A G snp 6356.77 1/1 99 223 0 223 1.0 exonic rs7844812 MBOAT4 AU synonymous SNV NM_001100916 exon3 c.T1203C p.S401S 0.730431 0.7659 0.773544 0.8369 0.7765 1.000 P -1.042 T Likely benign 8_29996158_A->G 8 29996158 29996158 A G snp 1020.77 1/1 72 38 0 38 1.0 exonic rs4733141 MBOAT4 AU synonymous SNV NM_001100916 exon2 c.T234C p.A78A 0.852835 0.7589 0.908016 0.9369 0.7783 Uncertain 8_29996256_T->C 8 29996256 29996256 T C snp 190.9 1/1 15 8 0 8 1.0 exonic rs7813902 MBOAT4 AU nonsynonymous SNV NM_001100916 exon2 c.A136G p.T46A 0.851837 0.7589 0.908195 0.9307 0.7802 0.007 P -1.047 T 0.0 T 0.0 T Pathogenic 8_29996313_G->C 8 29996313 29996313 G C snp 54.74 1/1 6 2 0 2 1.0 ncRNA_intronic rs7823643 MIR548O2 AU 0.851837 0.7589 0.909509 0.9323 0.7677 Uncertain 8_30001915_T->G 8 30001915 30001915 T G snp 1192.77 1/1 87 37 0 37 1.0 ncRNA_intronic rs12546113 MIR548O2 AU 0.830871 0.7688 Uncertain 8_30013759_A->C 8 30013759 30013759 A C snp 56.74 1/1 6 2 0 2 1.0 ncRNA_intronic rs7012749 MIR548O2 AU 0.758187 0.7212 Uncertain 8_30210274_T->C 8 30210274 30210274 T C snp 2191.77 0/1 99 167 84 83 0.5 intergenic rs4349946 MIR548O2 AU 0.790535 0.8423 Uncertain 8_30210460_G->C 8 30210460 30210460 G C snp 781.77 0/1 99 39 15 24 0.62 intergenic rs10106469 MIR548O2 AU 0.172923 0.3185 Uncertain 8_30469805_A->C 8 30469805 30469805 A C snp 265.77 0/1 99 44 31 13 0.3 intronic rs7815625 GTF2E2 AR NM_002095 exon4 c.33378-10A>C 0.333666 0.2788 0.350300 0.4031 0.2514 Uncertain 8_30494733_TTGT->- 8 30494733 30494736 TTGT - indel 3148.73 0/1 99 89 39 50 0.56 intronic rs5890529 GTF2E2 AR NM_002095 exon6 c.56203+2093_56203+2096delTTGT 0.151558 0.1736 0.1731 0.1515 Uncertain 8_30539623_T->G 8 30539623 30539623 T G snp 1103.77 1/1 81 37 0 37 1.0 intronic rs2250192 GSR AU NM_001195102 exon3 c.2542+45T>G 0.76278 0.9048 0.740695 0.7757 0.9009 Uncertain 8_30541915_C->T 8 30541915 30541915 C T snp 450.77 1/1 36 14 0 14 1.0 intronic rs1465477 GSR AU NM_001195102 exon4 c.4680+199C>T 0.783946 0.9048 Uncertain 8_30546636_T->C 8 30546636 30546636 T C snp 1895.77 1/1 99 64 0 64 1.0 intronic rs2551715 GSR AU NM_001195102 exon5 c.9641-41T>C 0.6248 0.5804 0.641012 0.6001 0.5429 Uncertain 8_30546966_G->C 8 30546966 30546966 G C snp 387.77 1/1 30 10 0 10 1.0 intronic rs2253409 GSR AU NM_001195102 exon5 c.9800+130G>C 0.761182 0.9087 Uncertain 8_30565884_A->G 8 30565884 30565884 A G snp 466.77 1/1 36 12 0 12 1.0 intronic rs2551707 GSR AU NM_001195102 exon9 c.28622+226A>G 0.967851 1 Uncertain 8_30569827_G->A 8 30569827 30569827 G A snp 56.74 1/1 6 2 0 2 1.0 intronic rs2978662 GSR AU NM_001195102 exon11 c.32569+222G>A 0.626597 0.8244 Uncertain 8_30584923_G->A 8 30584923 30584923 G A snp 807.77 0/1 99 63 29 34 0.54 intronic rs2251780 GSR AU NM_001195102 exon12 c.48010-123G>A 0.226238 0.1468 Uncertain 8_30601611_C->- 8 30601611 30601611 C - indel 196.73 0/1 99 17 10 7 0.41 upstream rs3217273 UBXN8 AU 0.578874 0.8036 Uncertain 8_30601617_C->T 8 30601617 30601617 C T snp 323.77 0/1 99 19 8 11 0.58 upstream rs73672521 UBXN8 AU 0.161941 0.1438 Uncertain 8_30601725_G->A 8 30601725 30601725 G A snp 1630.77 0/1 99 156 83 73 0.47 exonic rs200535564 UBXN8 AU unknown 0.000199681 0.001 0.0003 0.0042 Uncertain 8_30601805_C->T 8 30601805 30601805 C T snp 2236.77 0/1 99 194 98 96 0.49 intronic rs2278092 UBXN8 AU NM_001282199 exon1 c.88+11C>T 0.578874 0.8036 0.638776 0.7414 0.8122 Uncertain 8_30608976_C->T 8 30608976 30608976 C T snp 2330.77 1/1 99 95 0 95 1.0 exonic rs2911690 UBXN8 AU unknown 0.997604 1 0.997958 0.9994 1 Uncertain 8_30609061_T->G 8 30609061 30609061 T G snp 486.77 0/1 99 35 16 19 0.54 intronic rs2911689 UBXN8 AU NM_001282199 exon2 c.7329+26T>G 0.688099 0.8482 0.730835 0.7741 0.8539 Uncertain 8_30609078_A->T 8 30609078 30609078 A T snp 411.77 0/1 99 26 12 14 0.54 intronic rs2911688 UBXN8 AU NM_001282199 exon2 c.7329+43A>T 0.687101 0.8492 0.730822 0.7660 0.8519 Uncertain 8_30614577_T->C 8 30614577 30614577 T C snp 180.9 1/1 15 5 0 5 1.0 intronic rs7012289 UBXN8 AU NM_001282199 exon4 c.12698+173T>C 0.977835 1 Uncertain 8_30620840_-->T 8 30620840 30620840 - T indel 3334.73 1/1 99 94 0 94 1.0 exonic rs11388922 UBXN8 AU unknown 0.997604 1 0.997742 0.9993 1 Uncertain 8_30620964_T->C 8 30620964 30620964 T C snp 2220.77 1/1 99 76 0 76 1.0 intronic rs2956010 UBXN8 AU NM_001282199 exon6 c.19157+101T>C 0.979433 1 Uncertain 8_30623996_T->C 8 30623996 30623996 T C snp 787.77 1/1 57 26 0 26 1.0 UTR3 rs2956016 UBXN8 AU 0.979433 1 Uncertain 8_30643538_-->CTAT 8 30643538 30643538 - CTAT indel 1708.73 0/1 99 91 58 33 0.36 UTR3 rs112865628 PPP2CB AU 0.15016 0.1042 0.1104 0.0714 Uncertain 8_30670396_G->T 8 30670396 30670396 G T snp 1273.77 0/1 99 89 38 51 0.57 upstream PPP2CB AU Uncertain 8_30695226_C->T 8 30695226 30695226 C T snp 7280.77 1/1 99 249 0 249 1.0 exonic rs2720593 TEX15 AU synonymous SNV NM_031271 exon3 c.G7425A p.T2475T 0.976238 1 0.976546 0.9930 1 Uncertain 8_30699631_T->A 8 30699631 30699631 T A snp 2348.77 0/1 99 214 109 105 0.49 exonic rs149845753 TEX15 AU synonymous SNV NM_031271 exon1 c.A6903T p.I2301I 3.303e-05 0.0005 Uncertain 8_30700598_T->C 8 30700598 30700598 T C snp 1104.77 0/1 99 112 65 47 0.42 exonic rs61740968 TEX15 AU nonsynonymous SNV NM_031271 exon1 c.A5936G p.N1979S 0.0686901 0.0992 0.073099 0.0919 0.0963 0 D 0.0 P -0.940 T 0.0 T 0.0 T Pathogenic 8_30854033_A->G 8 30854033 30854033 A G snp 2324.77 1/1 99 79 0 79 1.0 UTR3 rs2725371 PURG AU 0.800919 0.9514 Uncertain 8_30916085_T->C 8 30916085 30916085 T C snp 1255.77 1/1 90 42 0 42 1.0 intronic rs2737316 WRN AR NM_000553 exon2 c.96+26T>C 0.96266 1 0.959468 0.9878 1 Uncertain 8_30922346_C->T 8 30922346 30922346 C T snp 446.77 1/1 33 17 0 17 1.0 intronic rs2725346 WRN AR NM_000553 exon5 c.6467-84C>T 0.957867 1 Uncertain 8_30924557_C->T 8 30924557 30924557 C T snp 1111.77 0/1 99 116 66 50 0.43 exonic rs1800389 WRN AR synonymous SNV NM_000553 exon6 c.C513T p.C171C 0.6873 0.87 0.653698 0.7032 0.8605 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000118881.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 8_30941317_T->C 8 30941317 30941317 T C snp 505.77 0/1 99 50 27 23 0.46 intronic rs2737325 WRN AR NM_000553 exon10 c.25332+22T>C 0.486222 0.5784 0.509272 0.5576 0.5617 Uncertain 8_30958354_T->- 8 30958354 30958354 T - indel 1728.73 1/1 99 54 0 54 1.0 intronic rs3087419 WRN AR NM_000553 exon18 c.42401-10delT 0.98123 1 0.978355 0.9943 1 Uncertain 8_30973957_G->T 8 30973957 30973957 G T snp 6561.77 1/1 99 237 0 237 1.0 exonic rs1800392 WRN AR synonymous SNV NM_000553 exon20 c.G2361T p.L787L 0.471246 0.624 0.448178 0.4466 0.6202 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000118876.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 8_30977717_T->C 8 30977717 30977717 T C snp 1575.77 1/1 99 45 0 45 1.0 intronic rs2725352 WRN AR NM_000553 exon21 c.61795-41T>C 0.480232 0.625 0.459166 0.4506 0.6207 Uncertain 8_30990110_G->A 8 30990110 30990110 G A snp 593.77 1/1 45 16 0 16 1.0 intronic rs2252480 WRN AR NM_000553 exon24 c.74059+88G>A 0.441294 0.6429 Uncertain 8_30999123_G->A 8 30999123 30999123 G A snp 4721.77 1/1 99 158 0 158 1.0 intronic rs2737335 WRN AR NM_000553 exon25 c.83153+7G>A 0.494808 0.6419 0.466016 0.4479 0.6324 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000118873.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 8_30999280_G->T 8 30999280 30999280 G T snp 1210.77 1/1 87 40 0 40 1.0 exonic rs1801195 WRN AR nonsynonymous SNV NM_000553 exon26 c.G3222T p.L1074F 0.496006 0.6419 0.466938 0.4492 0.6322 0.83 T 0.0 P -0.938 T 0.0 T 0.0 T CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000118877.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 ID=CM004850;DIS=Coronary stenosis, reduced risk, association with;TAG=DP;PUB=11186893 DP Pathogenic 8_30999394_A->G 8 30999394 30999394 A G snp 83.28 1/1 9 3 0 3 1.0 intronic rs2725363 WRN AR NM_000553 exon26 c.83328+103A>G 0.372204 0.6389 Uncertain 8_31000012_T->C 8 31000012 31000012 T C snp 185.9 1/1 15 7 0 7 1.0 intronic rs2725364 WRN AR NM_000553 exon27 c.84178-129T>C 0.384784 0.6389 Uncertain 8_31000243_T->C 8 31000243 31000243 T C snp 630.77 1/1 45 25 0 25 1.0 intronic rs2725365 WRN AR NM_000553 exon27 c.84254+26T>C 0.439097 0.6419 0.380967 0.3896 0.6330 Uncertain 8_31005017_-->C 8 31005017 31005017 - C indel 5274.73 1/1 99 119 1 118 0.99 intronic rs3087415 WRN AR NM_000553 exon30 c.89029+25insC 0.976238 1 0.972684 0.9928 1 Uncertain 8_32453358_G->A 8 32453358 32453358 G A snp 3078.77 1/1 99 113 0 113 1.0 exonic rs3924999 NRG1 AU nonsynonymous SNV NM_013956 exon2 c.G113A p.R38Q 0.385184 0.7589 0.306781 0.3913 0.7752 0.08 T 1.000 P -1.014 T 0.966 D 0.245 D ID=CM054795;DIS=Alzheimers disease, association with;TAG=DP;PUB=16082692 DP Pathogenic 8_32474242_C->T 8 32474242 32474242 C T snp 2620.77 1/1 99 96 0 96 1.0 intronic rs57944175 NRG1 AU NM_004495 exon5 c.68108-110C>T 0.252196 0.4772 Uncertain 8_33246538_A->G 8 33246538 33246538 A G snp 1521.77 0/1 99 164 93 71 0.43 exonic rs16880849 FUT10 AU synonymous SNV NM_032664 exon4 c.T1155C p.D385D 0.298722 0.4692 0.204829 0.2588 0.4554 Uncertain 8_33246591_G->C 8 33246591 33246591 G C snp 1907.77 0/1 99 152 74 78 0.51 exonic rs17855838 FUT10 AU nonsynonymous SNV NM_032664 exon4 c.C1102G p.L368V 0.272963 0.4683 0.174919 0.2509 0.4559 0.08 T 1.000 P -0.902 T 0.918 T 0.596 D Pathogenic 8_33246685_G->A 8 33246685 33246685 G A snp 1711.77 0/1 99 116 47 69 0.59 exonic rs16880852 FUT10 AU synonymous SNV NM_032664 exon4 c.C1008T p.Y336Y 0.298722 0.4683 0.204752 0.2586 0.4545 Uncertain 8_33311091_T->C 8 33311091 33311091 T C snp 422.77 0/1 99 33 15 18 0.55 intronic rs7009689 FUT10 AU NM_032664 exon3 c.80934+63T>C 0.544728 0.494 Uncertain 8_33313329_G->A 8 33313329 33313329 G A snp 425.77 0/1 99 32 13 19 0.59 intronic rs2732315 FUT10 AU NM_032664 exon3 c.80934+2301G>A 0.630591 0.5655 0.5840 0.6111 0.08 T 0.0 P -1.045 T 0.0 T 0.0 T Uncertain 8_33313422_A->- 8 33313422 33313422 A - indel 317.73 0/1 99 50 21 29 0.58 intronic rs11337905 FUT10 AU NM_032664 exon3 c.80934+2394delA 0.3813 0.4013 Uncertain 8_33347907_T->G 8 33347907 33347907 T G snp 723.77 0/1 99 59 29 30 0.51 intronic rs2732274 MAK16 AU NM_032509 exon6 c.5133+50T>G 0.58766 0.5565 0.663079 0.6069 0.5702 Uncertain 8_33355886_G->T 8 33355886 33355886 G T snp 136.77 0/1 99 16 8 8 0.5 intronic rs2676419 MAK16 AU NM_032509 exon10 c.13225-63G>T 0.58127 0.5565 Uncertain 8_33356074_A->G 8 33356074 33356074 A G snp 635.77 0/1 99 59 28 31 0.53 exonic rs6468171 MAK16 AU nonsynonymous SNV NM_032509 exon10 c.A830G p.Q277R 0.553315 0.4851 0.643318 0.5724 0.4862 1 T 0.0 P -1.008 T 0.0 T 0.0 T Pathogenic 8_33369944_T->C 8 33369944 33369944 T C snp 2051.77 0/1 99 166 82 84 0.51 exonic rs2304748 TTI2 AR nonsynonymous SNV NM_001102401 exon2 c.A188G p.E63G 0.506789 0.5556 0.564662 0.5614 0.5677 0.07 T 0.000 P -0.922 T 0.689 T 0.186 P Pathogenic 8_33369994_A->G 8 33369994 33369994 A G snp 2006.77 0/1 99 178 94 84 0.47 exonic rs3098657 TTI2 AR synonymous SNV NM_001102401 exon2 c.T138C p.N46N 0.578874 0.5565 0.656082 0.6016 0.5685 Uncertain 8_33370985_A->G 8 33370985 33370985 A G snp 692.77 0/1 99 63 38 25 0.4 upstream rs2581896 TTI2 AR 0.588059 0.5565 0.669166 0.6189 0.5717 Uncertain 8_33371146_T->G 8 33371146 33371146 T G snp 3125.77 0/1 99 249 118 131 0.53 upstream rs2581897 TTI2 AR 0.506789 0.5565 0.5606 0.5678 Uncertain 8_33371150_A->G 8 33371150 33371150 A G snp 3014.77 0/1 99 249 118 131 0.53 upstream rs2581898 TTI2 AR 0.578874 0.5565 Uncertain 8_33371199_T->C 8 33371199 33371199 T C snp 2548.77 0/1 99 208 89 119 0.57 upstream rs2581899 TTI2 AR 0.525559 0.5565 Uncertain 8_33371296_T->C 8 33371296 33371296 T C snp 277.77 0/1 99 19 10 9 0.47 upstream rs12682118 TTI2 AR 0.571885 0.5565 Uncertain 8_33408901_C->G 8 33408901 33408901 C G snp 637.77 0/1 99 68 38 30 0.44 exonic rs3735949 RNF122 AU synonymous SNV NM_024787 exon3 c.G189C p.L63L 0.166334 0.126 0.146932 0.0875 0.1579 Uncertain 8_33416222_C->T 8 33416222 33416222 C T snp 728.77 0/1 99 58 26 32 0.55 exonic rs3735951 RNF122 AU synonymous SNV NM_024787 exon2 c.G93A p.Q31Q 0.610423 0.499 0.666385 0.5717 0.5359 Uncertain 8_33424394_-->G 8 33424394 33424394 - G indel 102.73 0/1 99 13 5 8 0.62 UTR5 rs141701554 RNF122 AU 0.0447284 0.1171 Uncertain 8_33449746_-->AGAG 8 33449746 33449746 - AGAG indel 3767.73 0/1 99 126 52 74 0.59 intronic rs148034549 DUSP26 AU NM_001305116 exon1 c.200+16insAGAG 0.0543131 0.1161 0.0476 0.1397 Uncertain 8_33451026_C->T 8 33451026 33451026 C T snp 786.77 0/1 99 52 22 30 0.58 intronic rs2044162 DUSP26 AU NM_001305116 exon2 c.1520-24C>T 0.36881 0.4702 0.318699 0.4235 0.4269 Uncertain 8_35093427_-->AGCT 8 35093427 35093427 - AGCT indel 750.73 1/1 36 12 0 12 1.0 intronic rs10694226 UNC5D AU NM_080872 exon1 c.103+22insAGCT 0.312242 0.3947 . Uncertain 8_35425782_T->G 8 35425782 35425782 T G snp 1306.77 0/1 99 89 32 57 0.64 intronic UNC5D AU NM_080872 exon3 c.332457+23T>G Uncertain 8_35425870_T->A 8 35425870 35425870 T A snp 1196.77 1/1 87 39 0 39 1.0 intronic rs2589340 UNC5D AU NM_080872 exon3 c.332457+111T>A 1 1 Uncertain 8_36673219_T->A 8 36673219 36673219 T A snp 506.77 0/1 99 46 22 24 0.52 intronic rs79444019 KCNU1 AU NM_001031836 exon9 c.31277+14T>A 0.0704872 0.2599 0.004755 0.0308 0.2846 Uncertain 8_36675097_T->C 8 36675097 36675097 T C snp 1157.77 0/1 99 108 61 47 0.44 intronic rs16885453 KCNU1 AU NM_001031836 exon10 c.33239-70T>C 0.0792732 0.2599 Uncertain 8_36691189_C->T 8 36691189 36691189 C T snp 2866.77 0/1 99 213 90 123 0.58 intronic rs10089594 KCNU1 AU NM_001031836 exon11 c.49249+12C>T 0.378395 0.4345 0.284522 0.2846 0.4241 Uncertain 8_36694394_C->T 8 36694394 36694394 C T snp 2252.77 0/1 99 210 113 97 0.46 exonic rs77438672 KCNU1 AU synonymous SNV NM_001031836 exon14 c.C1449T p.I483I 0.0670927 0.2599 0.002257 0.0285 0.2788 Uncertain 8_36694480_C->A 8 36694480 36694480 C A snp 1148.77 0/1 99 87 39 48 0.55 intronic rs80133697 KCNU1 AU NM_001031836 exon14 c.52535+17C>A 0.0798722 0.2599 0.015376 0.0328 0.2782 Uncertain 8_36767024_T->C 8 36767024 36767024 T C snp 1076.77 0/1 99 52 15 37 0.71 exonic rs28608091 KCNU1 AU nonsynonymous SNV NM_001031836 exon21 c.T2302C p.W768R 0.379792 0.376 0.379121 0.3942 0.3552 0.89 T 1.000 P -0.919 T 0.0 T 0.0 T Pathogenic 8_36776267_T->G 8 36776267 36776267 T G snp 506.77 0/1 99 47 26 21 0.45 intronic rs10108041 KCNU1 AU NM_001031836 exon23 c.134412-73T>G 0.591054 0.5724 Uncertain 8_36779939_G->T 8 36779939 36779939 G T snp 1998.77 0/1 99 166 81 85 0.51 intronic rs77521405 KCNU1 AU NM_001031836 exon24 c.138079-68G>T 0.0551118 0.2103 Uncertain 8_36780209_A->G 8 36780209 36780209 A G snp 92.77 0/1 99 13 9 4 0.31 intronic rs1010669 KCNU1 AU NM_001031836 exon24 c.138219+62A>G 0.591054 0.5724 Uncertain 8_36786396_C->T 8 36786396 36786396 C T snp 171.77 0/1 99 27 17 10 0.37 intronic rs10089755 KCNU1 AU NM_001031836 exon25 c.146540-2072C>T 0.568091 0.5724 Uncertain 8_36788693_T->C 8 36788693 36788693 T C snp 452.77 0/1 99 36 17 19 0.53 intronic rs6986249 KCNU1 AU NM_001031836 exon25 c.146735+30T>C 0.589058 0.5724 0.577415 0.5778 0.5878 Uncertain 8_37620076_A->G 8 37620076 37620076 A G snp 1067.77 1/1 78 40 0 40 1.0 upstream rs6468438 PROSC AU 0.998203 1 Uncertain 8_37655044_C->G 8 37655044 37655044 C G snp 560.77 0/1 99 53 26 27 0.51 exonic rs371193886 ADGRA2 AU synonymous SNV NM_032777 exon1 c.C258G p.T86T 0.00798722 0.0337 0.0030 0.0260 Uncertain 8_37686749_A->G 8 37686749 37686749 A G snp 1794.77 0/1 99 160 79 81 0.51 intronic rs6468442 ADGRA2 AU NM_032777 exon4 c.31992-29A>G 0.855232 0.871 0.836306 0.8134 0.8642 Uncertain 8_37690918_T->G 8 37690918 37690918 T G snp 54.74 1/1 6 2 0 2 1.0 intronic rs743398 ADGRA2 AU NM_032777 exon9 c.35940+192T>G 0.508786 0.7698 Uncertain 8_37692544_AA->- 8 37692544 37692545 AA - indel 142.73 0/1 91 8 3 5 0.63 intronic rs10542666 ADGRA2 AU NM_032777 exon12 c.37905-147_37905-146delAA Uncertain 8_37693063_T->- 8 37693063 37693063 T - indel 1885.73 0/1 99 94 45 49 0.52 intronic ADGRA2 AU NM_032777 exon13 c.38285-8delT Uncertain 8_37693302_T->C 8 37693302 37693302 T C snp 468.77 1/1 36 14 0 14 1.0 intronic rs10101560 ADGRA2 AU NM_032777 exon13 c.38502+14T>C 0.978834 0.999 0.952132 0.9539 0.9995 Uncertain 8_37696874_C->T 8 37696874 37696874 C T snp 337.77 0/1 99 17 7 10 0.59 intronic rs6998793 ADGRA2 AU NM_032777 exon16 c.42230-142C>T 0.444688 0.6627 Uncertain 8_37699195_C->G 8 37699195 37699195 C G snp 118.77 0/1 99 35 28 7 0.2 exonic rs4976898 ADGRA2 AU synonymous SNV NM_032777 exon19 c.C3339G p.G1113G 0.798323 0.8889 0.803665 0.7665 0.9308 0.62 T 0.003 P -1.012 T Likely benign 8_37699516_C->T 8 37699516 37699516 C T snp 730.77 0/1 99 68 37 31 0.46 exonic rs7010546 ADGRA2 AU synonymous SNV NM_032777 exon19 c.C3660T p.G1220G 0.464058 0.6716 0.283382 0.4587 0.7143 0.7 T 1.000 P Likely benign 8_37706057_A->T 8 37706057 37706057 A T snp 889.77 0/1 99 70 32 38 0.54 intronic rs11777510 BRF2 AU NM_018310 exon3 c.4106-56A>T 0.563898 0.6746 0.483136 Uncertain 8_37706267_C->A 8 37706267 37706267 C A snp 593.77 0/1 99 47 26 21 0.45 intronic rs12541064 BRF2 AU NM_018310 exon3 c.4166+94C>A 0.439297 0.6478 Uncertain 8_37728017_A->G 8 37728017 37728017 A G snp 1413.77 1/1 99 51 0 51 1.0 exonic rs7817179 RAB11FIP1 AU nonsynonymous SNV NM_025151 exon4 c.T1652C p.M551T 0.809505 0.9752 0.744503 0.7573 0.9746 1 T 0.000 P -0.954 T 0.0 T 0.0 T Pathogenic 8_37728019_T->G 8 37728019 37728019 T G snp 1377.77 1/1 99 50 0 50 1.0 exonic rs7820872 RAB11FIP1 AU synonymous SNV NM_025151 exon4 c.A1650C p.A550A 0.800719 0.9752 0.734815 0.7553 0.9773 Uncertain 8_37730368_G->A 8 37730368 37730368 G A snp 3230.05 1/1 99 113 0 113 1.0 exonic rs12541651 RAB11FIP1 AU nonsynonymous SNV NM_001002814 exon4 c.C1952T p.A651V 0.60024 0.7034 0.610411 0.6590 0.7398 0.26 T 0.497 P -1.075 T Pathogenic 8_37795341_T->C 8 37795341 37795341 T C snp 174.9 1/1 15 5 0 5 1.0 intronic rs4956534 GOT1L1 AU NM_152413 exon7 c.3457+74T>C 0.571486 0.7659 Uncertain 8_37796644_T->C 8 37796644 37796644 T C snp 116.77 0/1 99 8 4 4 0.5 intronic rs28723477 GOT1L1 AU NM_152413 exon8 c.4589+245T>C 0.283347 0.2044 Uncertain 8_37821853_T->C 8 37821853 37821853 T C snp 430.77 0/1 99 26 8 18 0.69 intronic rs2071493 ADRB3 AR,AD,AO NM_000025 exon1 c.22+96T>C 0.114018 0.131 Uncertain 8_37822769_C->A 8 37822769 37822769 C A snp 246.77 0/1 99 22 13 9 0.41 intronic rs4997 ADRB3 AR,AD,AO NM_000025 exon2 c.1047-13C>A 0.113818 0.131 0.064599 0.1521 0.1890 Uncertain 8_37823798_A->G 8 37823798 37823798 A G snp 1923.77 0/1 99 181 96 85 0.47 exonic rs4994 ADRB3 AR,AD,AO nonsynonymous SNV NM_000025 exon1 c.T190C p.W64R 0.115016 0.131 0.085950 0.1057 0.1444 1 T 0.000 P -0.996 T 0.0 T 0.0 T CLINSIG=other;CLNDBN=Obesity;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000033197.1;CLNDSDB=MedGen:OMIM:Orphanet:SNOMED_CT;CLNDSDBID=C0028754:601665:ORPHA71529:414916001 ID=CM950017;DIS=Hyperinsulinaemia, association with;TAG=DFP;PUB=7487991 DFP Pathogenic 8_37888017_C->G 8 37888017 37888017 C G snp 661.77 1/1 51 22 0 22 1.0 upstream rs3750243 EIF4EBP1 AU 0.765375 0.6438 Uncertain 8_37963239_C->T 8 37963239 37963239 C T snp 723.77 1/1 54 23 0 23 1.0 exonic rs2073351 ASH2L AU synonymous SNV NM_004674 exon1 c.C171T p.S57S 0.0998403 0.2421 0.022342 0.0637 0.2430 Uncertain 8_37968039_G->C 8 37968039 37968039 G C snp 6454.77 1/1 99 227 0 227 1.0 intronic rs3763555 ASH2L AU NM_001105214 exon4 c.3420+54G>C 0.077476 0.2401 0.010951 ID=COSN168311;OCCURENCE=1(large_intestine) Uncertain 8_37976628_T->G 8 37976628 37976628 T G snp 834.77 1/1 63 26 0 26 1.0 intronic rs2275958 ASH2L AU NM_001105214 exon9 c.12222-159T>G 0.077476 0.2401 Uncertain 8_37986561_G->C 8 37986561 37986561 G C snp 1908.77 1/1 99 63 0 63 1.0 intronic rs2517394 ASH2L AU NM_001105214 exon12 c.21904+92G>C 0.993411 1 Uncertain 8_37996327_G->A 8 37996327 37996327 G A snp 5411.77 1/1 99 213 0 213 1.0 intronic rs2275957 ASH2L AU NM_001105214 exon15 c.31768-6G>A 0.0736821 0.2391 0.006074 0.0408 0.2359 ID=COSM150486;OCCURENCE=1(stomach) Uncertain 8_38003733_G->T 8 38003733 38003733 G T snp 7356.77 1/1 99 250 1 249 1.0 intronic rs35602052 STAR AR NM_000349 exon3 c.1875+68G>T 0.0776757 0.2401 ID=COSN168312;OCCURENCE=1(large_intestine) Uncertain 8_38003787_T->C 8 38003787 38003787 T C snp 7633.77 1/1 99 249 0 249 1.0 intronic rs2720050 STAR AR NM_000349 exon4 c.2016-19T>C 0.965655 0.997 0.976472 0.9796 0.9971 Uncertain 8_38005835_T->C 8 38005835 38005835 T C snp 2915.77 1/1 99 109 0 109 1.0 exonic rs2229620 STAR AR synonymous SNV NM_000349 exon3 c.A189G p.L63L 0.995407 1 0.996233 0.9986 0.9999 1.000 P Uncertain 8_38006331_C->- 8 38006331 38006331 C - indel 2484.73 1/1 99 72 0 72 1.0 intronic rs35520501 STAR AR NM_000349 exon6 c.4482+59delC 1 1 Uncertain 8_38006336_C->G 8 38006336 38006336 C G snp 1775.77 1/1 99 62 0 62 1.0 intronic rs2070347 STAR AR NM_000349 exon6 c.4482+64C>G 0.0786741 0.2391 Uncertain 8_38027519_A->G 8 38027519 38027519 A G snp 1249.77 0/1 99 76 35 41 0.54 intronic rs16887236 LSM1 AU NM_014462 exon2 c.6248+84A>G 0.201877 0.2778 Uncertain 8_38028726_T->C 8 38028726 38028726 T C snp 615.77 1/1 45 21 0 21 1.0 intronic rs2843739 LSM1 AU NM_014462 exon3 c.8295-756T>C 0.939097 1 Uncertain 8_38029708_G->C 8 38029708 38029708 G C snp 141.03 1/1 12 5 0 5 1.0 intronic rs2843738 LSM1 AU NM_014462 exon3 c.8364+157G>C 0.430711 0.6012 Uncertain 8_38033989_G->C 8 38033989 38033989 G C snp 490.77 0/1 99 45 24 21 0.47 UTR5 rs2270376 LSM1 AU 0.236422 0.3204 Uncertain 8_38034284_T->C 8 38034284 38034284 T C snp 93.28 1/1 9 3 0 3 1.0 UTR5 rs55962869 BAG4 AU 0.234225 0.3204 Uncertain 8_38095662_C->T 8 38095662 38095662 C T snp 2092.77 0/1 99 158 71 87 0.55 exonic rs2306899 DDHD2 AR nonsynonymous SNV NM_015214 exon5 c.C557T p.T186M 0.171725 0.3194 0.174842 0.2003 0.3161 0.08 T 0.000 P -0.978 T 0.863 T 0.302 P CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000116873.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 8_38103239_T->A 8 38103239 38103239 T A snp 1844.77 0/1 99 130 50 80 0.62 intronic rs7006757 DDHD2 AR NM_001164232 exon8 c.12747-20T>A 0.218251 0.3194 0.227308 0.2160 0.3172 Uncertain 8_38110215_T->C 8 38110215 38110215 T C snp 753.77 0/1 99 75 43 32 0.43 intronic rs2898674 DDHD2 AR NM_001164232 exon14 c.19727-24T>C 0.199481 0.3204 0.205367 0.2114 0.3218 Uncertain 8_38126359_G->C 8 38126359 38126359 G C snp 1021.77 0/1 99 85 40 45 0.53 intronic rs1149 PPAPDC1B AU NM_032483 exon6 c.3949-40G>C 0.220447 0.3234 0.219135 0.2652 0.3710 Uncertain 8_38133793_G->A 8 38133793 38133793 G A snp 931.77 0/1 99 65 31 34 0.52 intronic rs1488935 WHSC1L1 AU NM_023034 exon2 c.655-20G>A 0.212061 0.3204 0.213291 0.2177 0.3269 Uncertain 8_38147840_C->T 8 38147840 38147840 C T snp 77.77 0/1 99 6 3 3 0.5 intronic rs7837189 WHSC1L1 AU NM_023034 exon8 c.14834-152C>T 0.209864 0.3194 Uncertain 8_38153571_A->T 8 38153571 38153571 A T snp 74.77 0/1 72 6 3 3 0.5 intronic rs55703821 WHSC1L1 AU NM_023034 exon9 c.20312+101A>T 0.195887 0.3194 Uncertain 8_38173375_G->C 8 38173375 38173375 G C snp 587.77 0/1 99 39 14 25 0.64 intronic rs16887325 WHSC1L1 AU NM_023034 exon15 c.40271-54G>C 0.216254 0.3194 Uncertain 8_38178767_C->A 8 38178767 38178767 C A snp 1383.77 0/1 99 106 47 59 0.56 intronic rs2234555 WHSC1L1 AU NM_017778 exon3 c.3217+77C>A 0.21226 0.3194 Uncertain 8_38262233_T->C 8 38262233 38262233 T C snp 38.77 0/1 67 5 3 2 0.4 intronic rs7001340 LETM2 AU NM_001199660 exon8 c.10301+209T>C 0.205671 0.3492 Uncertain 8_38281658_G->A 8 38281658 38281658 G A snp 184.77 0/1 99 26 18 8 0.31 intronic rs3925 FGFR1 AD,AO NM_001174065 exon12 c.10881-368G>A 0.1875 0.3224 Uncertain 8_38282294_C->T 8 38282294 38282294 C T snp 229.77 0/1 99 19 10 9 0.47 intronic rs2280846 FGFR1 AD,AO NM_001174065 exon12 c.11072+77C>T 0.135383 0.2857 Uncertain 8_38286811_C->G 8 38286811 38286811 C G snp 831.77 0/1 99 47 12 35 0.74 intronic rs2304000 FGFR1 AD,AO NM_001174065 exon16 c.16054-388C>G 0.196286 0.3185 0.203243 0.2678 0.3946 Uncertain 8_38287555_C->T 8 38287555 38287555 C T snp 180.77 0/1 99 14 8 6 0.43 intronic rs4647907 FGFR1 AD,AO NM_001174065 exon16 c.16321+89C>T 0.185503 0.3155 Uncertain 8_38369831_A->C 8 38369831 38369831 A C snp 1005.77 1/1 72 37 0 37 1.0 UTR3 rs4733951 C8orf86 AU 0.572684 0.744 Uncertain 8_38370201_AGACACAGAC->- 8 38370201 38370210 AGACACAGAC - indel 864.75 1/1 24 14 0 14 1.0 intronic rs146268311 C8orf86 AU NM_207412 exon1 c.253+44_253+53delAGACACAGAC 0.56889 0.7183 0.623598 0.6798 0.6790 Uncertain 8_38385795_T->C 8 38385795 38385795 T C snp 2458.77 1/1 99 67 0 67 1.0 intronic rs2445020 C8orf86 AU NM_001303531 exon2 c.15860-45T>C 0.83107 0.9514 0.845302 0.8503 0.9412 Uncertain 8_38458371_G->T 8 38458371 38458371 G T snp 1167.77 0/1 99 126 76 50 0.4 intergenic rs3802323 C8orf86 AU 0.532947 0.6488 0.4190 0.6571 Uncertain 8_38458552_-->TCT 8 38458552 38458552 - TCT indel 6598.73 1/1 99 102 0 102 1.0 intergenic rs55960313 C8orf86 AU 0.975639 1 0.9918 0.9999 Uncertain 8_38458659_C->T 8 38458659 38458659 C T snp 1695.77 1/1 99 64 0 64 1.0 intergenic rs327934 C8orf86 AU 0.975639 1 0.9922 1 Uncertain 8_38458696_T->C 8 38458696 38458696 T C snp 207.77 0/1 99 38 24 14 0.37 intergenic rs7812668 C8orf86 AU 0.267572 0.2827 0.2622 0.3069 Uncertain 8_38458802_A->C 8 38458802 38458802 A C snp 48.74 1/1 6 2 0 2 1.0 intergenic rs327935 C8orf86 AU 0.646965 0.7202 Uncertain 8_38808612_A->G 8 38808612 38808612 A G snp 50.74 1/1 6 2 0 2 1.0 intronic rs10088613 PLEKHA2 AU NM_021623 exon6 c.33061+104A>G 0.69369 0.877 Uncertain 8_38809663_A->C 8 38809663 38809663 A C snp 1806.77 1/1 99 58 0 58 1.0 intronic rs6984871 PLEKHA2 AU NM_021623 exon7 c.34236-20A>C 0.91254 0.9246 0.898952 0.8888 0.9168 Uncertain 8_38810707_A->G 8 38810707 38810707 A G snp 998.77 1/1 75 28 0 28 1.0 intronic rs7824764 PLEKHA2 AU NM_021623 exon9 c.35367-107A>G 0.154952 0.0972 Uncertain 8_38826290_G->A 8 38826290 38826290 G A snp 516.77 0/1 99 35 18 17 0.49 intronic rs6996274 PLEKHA2 AU NM_021623 exon11 c.50740+103G>A 0.692692 0.7907 Uncertain 8_38826365_T->C 8 38826365 38826365 T C snp 34.77 0/1 63 7 5 2 0.29 intronic rs6985572 PLEKHA2 AU NM_021623 exon11 c.50740+178T>C 0.740216 0.7927 Uncertain 8_38826792_T->G 8 38826792 38826792 T G snp 44.77 0/1 33 3 1 2 0.67 intronic rs9987126 PLEKHA2 AU NM_021623 exon12 c.51491-146T>G 0.739018 0.7927 Uncertain 8_38827186_C->- 8 38827186 38827186 C - indel 4149.73 1/1 99 102 0 102 1.0 splicing rs398007544 PLEKHA2 AU NM_021623 exon13 c.51739delC 1 1 0.999913 1.0000 1 Pathogenic 8_38835456_T->C 8 38835456 38835456 T C snp 691.77 1/1 51 24 0 24 1.0 intronic rs4733960 HTRA4 AU NM_153692 exon4 c.3689-15T>C 0.779153 0.9494 0.738044 0.7819 0.9504 Uncertain 8_38835666_T->C 8 38835666 38835666 T C snp 973.77 1/1 69 36 0 36 1.0 exonic rs4733961 HTRA4 AU synonymous SNV NM_153692 exon4 c.T966C p.N322N 0.781949 0.9494 0.740351 0.7870 0.9510 Uncertain 8_38840364_C->T 8 38840364 38840364 C T snp 343.78 1/1 27 9 0 9 1.0 intronic rs4733963 HTRA4 AU NM_153692 exon8 c.8689-107C>T 0.823882 0.9484 Uncertain 8_38840591_C->T 8 38840591 38840591 C T snp 2180.77 0/1 99 190 102 88 0.46 intronic rs7814264 HTRA4 AU NM_153692 exon8 c.8785+24C>T 0.453874 0.749 0.364447 0.4327 0.7515 Uncertain 8_38845638_A->C 8 38845638 38845638 A C snp 195.77 0/1 99 23 9 14 0.61 UTR3 rs66513029 HTRA4 AU 0.458666 0.753 0.369980 0.4330 0.7476 Uncertain 8_38845644_-->AAA 8 38845644 38845644 - AAA indel 139.73 0/1 99 18 7 11 0.61 UTR3 rs373559742 HTRA4 AU 0.0942492 0.1538 0.0571 0.0942 Uncertain 8_38845716_A->G 8 38845716 38845716 A G snp 56.74 1/1 6 2 0 2 1.0 UTR3 rs7823125 HTRA4 AU 0.45647 0.752 Uncertain 8_38848850_C->T 8 38848850 38848850 C T snp 520.77 1/1 39 21 0 21 1.0 UTR3 rs4733895 TM2D2 AU 0.823283 0.9484 0.786022 0.7959 0.9501 Uncertain 8_38851204_A->C 8 38851204 38851204 A C snp 1371.77 0/1 99 150 82 68 0.45 intronic rs28626007 TM2D2 AU NM_031940 exon2 c.2329+25A>C 0.278554 0.1984 0.319391 0.3475 0.2050 Uncertain 8_38853620_G->A 8 38853620 38853620 G A snp 954.77 0/1 99 56 19 37 0.66 intronic rs6991968 TM2D2 AU NM_031940 exon4 c.4881-111G>A 0.485423 0.747 Uncertain 8_38853983_C->A 8 38853983 38853983 C A snp 1354.77 0/1 99 113 55 58 0.51 UTR5 rs7840270 TM2D2 AU 0.421925 0.751 0.337690 0.4228 0.7561 Uncertain 8_38854041_C->T 8 38854041 38854041 C T snp 473.77 0/1 99 43 22 21 0.49 UTR5 rs10105311 TM2D2 AU 0.272364 0.1974 Uncertain 8_38872186_C->A 8 38872186 38872186 C A snp 857.77 1/1 63 25 0 25 1.0 intronic rs7833611 ADAM9 AU NM_003816 exon4 c.16980+624C>A 0.825879 0.9464 Uncertain 8_38876466_T->C 8 38876466 38876466 T C snp 1478.77 0/1 99 118 59 59 0.5 intronic rs6474518 ADAM9 AU NM_003816 exon7 c.21855+29T>C 0.455671 0.7282 0.006382 0.4560 0.7343 Uncertain 8_38876468_C->T 8 38876468 38876468 C T snp 1425.77 0/1 99 116 59 57 0.49 intronic rs6474519 ADAM9 AU NM_003816 exon7 c.21855+31C>T 0.455072 0.7282 0.029909 0.4559 0.7345 Uncertain 8_38884342_-->TTCT 8 38884342 38884342 - TTCT indel 7977.73 1/1 99 148 0 148 1.0 intronic rs10651669 ADAM9 AU NM_003816 exon11 c.29747+13insTTCT 0.790016 0.7973 0.9478 Uncertain 8_38899772_G->A 8 38899772 38899772 G A snp 342.77 0/1 99 22 9 13 0.59 intronic rs34138150 ADAM9 AU NM_003816 exon12 c.45054+136G>A 0.222444 0.1825 Uncertain 8_38911953_C->A 8 38911953 38911953 C A snp 2714.77 1/1 99 87 0 87 1.0 intronic rs9643905 ADAM9 AU NM_003816 exon13 c.57417-46C>A 0.817492 0.9454 0.775873 0.7803 0.9480 Uncertain 8_38940293_AAATCTCAGGACTAGA->- 8 38940293 38940308 AAATCTCAGGACTAGA - indel 11625.7 0/1 99 156 89 67 0.43 intronic rs72459173 ADAM9 AU NM_003816 exon17 c.85658+53_85658+68delAAATCTCAGGACTAGA 0.220647 0.1796 0.223482 0.2623 0.1839 Uncertain 8_38959498_G->A 8 38959498 38959498 G A snp 1503.77 0/1 99 135 63 72 0.53 intronic rs4733905 ADAM9 AU NM_003816 exon21 c.104867+49G>A 0.226438 0.2024 0.236583 0.2678 0.2084 Uncertain 8_38964647_G->A 8 38964647 38964647 G A snp 309.77 0/1 99 28 13 15 0.54 upstream rs4517088 ADAM32 AU 0.445487 0.6944 0.3754 0.7537 0.03 T 0.000 P -0.963 T Uncertain 8_38965271_C->T 8 38965271 38965271 C T snp 2077.77 0/1 99 189 96 93 0.49 UTR5 rs59118660 ADAM32 AU 0.437899 0.6994 0.332296 0.4020 0.7077 Uncertain 8_38987347_T->C 8 38987347 38987347 T C snp 76.77 0/1 99 12 8 4 0.33 intronic rs9650316 ADAM32 AU NM_145004 exon3 c.28881-6828T>C 0.457867 0.3998 Uncertain 8_38988463_G->A 8 38988463 38988463 G A snp 171.77 0/1 99 20 12 8 0.4 intronic rs10101239 ADAM32 AU NM_145004 exon3 c.28881-5712G>A 0.485024 0.6002 0.422689 Uncertain 8_38991720_A->G 8 38991720 38991720 A G snp 1262.77 0/1 99 95 44 51 0.54 intronic rs6997278 ADAM32 AU NM_145004 exon3 c.28881-2455A>G 0.197085 0.1984 Uncertain 8_39018283_A->G 8 39018283 39018283 A G snp 182.9 1/1 15 5 0 5 1.0 intronic rs7014489 ADAM32 AU NM_145004 exon7 c.53121-132A>G 0.985224 1 Uncertain 8_39068890_A->G 8 39068890 39068890 A G snp 149.77 0/1 99 17 9 8 0.47 intronic rs11786404 ADAM32 AU NM_145004 exon12 c.103549+47A>G 0.215655 0.2391 0.241574 0.2785 0.2376 Uncertain 8_39080632_C->G 8 39080632 39080632 C G snp 4257.77 1/1 99 171 0 171 1.0 exonic rs7845771 ADAM32 AU nonsynonymous SNV NM_145004 exon14 c.C1400G p.T467S 0.958267 1 0.961519 0.9887 1 0.83 T 0.0 P -0.922 T 0.0 T 0.01 T Pathogenic 8_39080824_T->A 8 39080824 39080824 T A snp 301.78 1/1 24 9 0 9 1.0 intronic rs4476978 ADAM32 AU NM_145004 exon14 c.115463+67T>A 0.954473 1 Uncertain 8_39091316_A->G 8 39091316 39091316 A G snp 56.74 1/1 6 2 0 2 1.0 intronic rs77618705 ADAM32 AU NM_145004 exon16 c.126123-101A>G 0.201078 0.2966 Uncertain 8_39091526_T->C 8 39091526 39091526 T C snp 1900.77 0/1 99 175 81 94 0.54 exonic rs4515515 ADAM32 AU synonymous SNV NM_145004 exon16 c.T1743C p.T581T 0.215855 0.2937 0.211186 0.2969 0.3752 Uncertain 8_39114677_T->- 8 39114677 39114677 T - indel 167.73 0/1 84 16 6 10 0.63 intronic rs200807312 ADAM32 AU NM_145004 exon19 c.149411-28delT 0.309904 0.3591 0.331435 0.4358 0.4540 Uncertain 8_39114949_C->T 8 39114949 39114949 C T snp 585.77 0/1 99 38 20 18 0.47 intronic rs73608630 ADAM32 AU NM_145004 exon19 c.149568+87C>T 0.220447 0.2857 Uncertain 8_39128387_C->T 8 39128387 39128387 C T snp 657.77 0/1 99 85 51 34 0.4 intronic rs4733994 ADAM32 AU NM_145004 exon20 c.163100-7C>T 0.215056 0.2917 0.210200 0.2508 0.2966 Uncertain 8_39128511_T->- 8 39128511 39128511 T - indel 363.73 0/1 99 47 22 25 0.53 intronic rs11347842 ADAM32 AU NM_145004 exon20 c.163139+78delT 0.217053 0.2917 0.219601 Uncertain 8_39133206_C->G 8 39133206 39133206 C G snp 539.77 0/1 99 50 28 22 0.44 intronic rs4733913 ADAM32 AU NM_145004 exon22 c.168052-140C>G 0.207867 0.2917 Uncertain 8_39311600_C->T 8 39311600 39311600 C T snp 1687.77 1/1 99 60 0 60 1.0 ncRNA_exonic rs7813010 ADAM3A AU 0.992212 1 0.9993 1 Uncertain 8_39311677_T->C 8 39311677 39311677 T C snp 1926.77 1/1 99 79 0 79 1.0 ncRNA_intronic rs7834545 ADAM3A AU 0.721845 0.6875 Uncertain 8_39312966_A->- 8 39312966 39312966 A - indel 1460.73 1/1 99 38 0 38 1.0 ncRNA_exonic rs76855595 ADAM3A AU 0.168331 0.373 0.1619 0.3053 Uncertain 8_39323485_C->- 8 39323485 39323485 C - indel 1706.73 1/1 99 46 0 46 1.0 ncRNA_intronic rs141960707 ADAM3A AU 0.173522 0.3829 0.1819 0.3218 Uncertain 8_39331031_T->C 8 39331031 39331031 T C snp 1980.77 1/1 99 67 0 67 1.0 ncRNA_exonic rs7465396 ADAM3A AU 0.173922 0.3839 0.1682 0.3152 Uncertain 8_39331093_T->C 8 39331093 39331093 T C snp 1273.77 1/1 93 46 0 46 1.0 ncRNA_exonic rs7845028 ADAM3A AU 0.438698 0.5308 0.3402 0.4505 Uncertain 8_39331226_T->C 8 39331226 39331226 T C snp 261.8 1/1 21 8 0 8 1.0 ncRNA_intronic rs12541604 ADAM3A AU 0.174321 0.3849 0.1585 0.2833 Uncertain 8_39332021_A->T 8 39332021 39332021 A T snp 86.28 1/1 9 3 0 3 1.0 ncRNA_intronic rs77123431 ADAM3A AU 0.173722 0.3839 0.1664 0.3152 Uncertain 8_39334939_C->T 8 39334939 39334939 C T snp 99.28 1/1 9 3 0 3 1.0 ncRNA_intronic rs7460313 ADAM3A AU 0.170927 0.3849 Uncertain 8_39463063_T->C 8 39463063 39463063 T C snp 62.74 1/1 6 4 0 4 1.0 intronic rs4236751 ADAM18 AU NM_001190956 exon3 c.21684-762T>C 0.947484 0.8383 Uncertain 8_39607105_-->ATGT 8 39607105 39607105 - ATGT indel 2830.73 1/1 99 39 0 39 1.0 intronic rs112217136 ADAM2 AU NM_001278114 exon5 c.4807-80insATGT Uncertain 8_39618637_G->T 8 39618637 39618637 G T snp 1124.77 1/1 81 39 0 39 1.0 intronic rs10093751 ADAM2 AU NM_001278113 exon7 c.16316-57G>T 0.777356 0.88 Uncertain 8_39618865_C->G 8 39618865 39618865 C G snp 95.28 1/1 9 4 0 4 1.0 intronic rs10097616 ADAM2 AU NM_001278114 exon6 c.16422+65C>G 0.519768 0.6111 Uncertain 8_39644691_C->G 8 39644691 39644691 C G snp 96.28 1/1 9 3 0 3 1.0 intronic rs3779718 ADAM2 AU NM_001278114 exon11 c.42196+117C>G 0.520367 0.6141 Uncertain 8_39780923_A->- 8 39780923 39780923 A - indel 216.74 1/1 29 21 2 19 0.9 intronic rs11337517 IDO1 AU NM_002164 exon7 c.9546-64delA Uncertain 8_39785321_G->A 8 39785321 39785321 G A snp 1380.77 1/1 99 50 0 50 1.0 intronic rs3739319 IDO1 AU NM_002164 exon10 c.13907-27G>A 0.412939 0.5198 0.360152 0.4784 0.6120 Uncertain 8_39792914_G->A 8 39792914 39792914 G A snp 299.77 0/1 99 29 18 11 0.38 intronic rs16888361 IDO2 AU NM_194294 exon1 c.22+177G>A 0.20647 0.2837 Uncertain 8_39821386_C->T 8 39821386 39821386 C T snp 696.77 0/1 99 53 27 26 0.49 intronic rs2543052 IDO2 AU NM_194294 exon3 c.28507+164C>T 0.188698 0.2361 Uncertain 8_39840438_G->T 8 39840438 39840438 G T snp 679.77 1/1 51 22 0 22 1.0 intronic rs78850705 IDO2 AU NM_194294 exon5 c.47574+149G>T 0.0744808 0.3036 Uncertain 8_39840455_C->T 8 39840455 39840455 C T snp 451.77 1/1 36 15 0 15 1.0 intronic rs78103174 IDO2 AU NM_194294 exon5 c.47574+166C>T 0.0744808 0.3036 Uncertain 8_39842830_G->A 8 39842830 39842830 G A snp 1312.77 1/1 96 42 0 42 1.0 intronic rs78351574 IDO2 AU NM_194294 exon6 c.50311-196G>A 0.0770767 0.3036 Uncertain 8_39843139_A->G 8 39843139 39843139 A G snp 390.77 1/1 30 12 0 12 1.0 intronic rs2729472 IDO2 AU NM_194294 exon6 c.50326+98A>G 0.861821 0.9315 Uncertain 8_39862783_T->A 8 39862783 39862783 T A snp 4020.77 1/1 99 145 0 145 1.0 intronic rs9792244 IDO2 AU NM_194294 exon9 c.70130-62T>A 0.067492 0.2768 0.002628 Uncertain 8_39862939_G->A 8 39862939 39862939 G A snp 2809.77 1/1 99 100 1 99 0.99 intronic rs9792365 IDO2 AU NM_194294 exon9 c.70182+42G>A 0.0694888 0.2768 0.003173 0.0305 0.2833 ID=COSN168316;OCCURENCE=2(liver),1(large_intestine) Uncertain 8_39871036_A->G 8 39871036 39871036 A G snp 604.77 1/1 45 18 0 18 1.0 intronic rs2955897 IDO2 AU NM_194294 exon10 c.78368-47A>G 0.973842 0.999 0.978138 0.9932 0.9999 Uncertain 8_39871298_-->TAA 8 39871298 39871298 - TAA indel 828.73 1/1 60 21 0 21 1.0 intronic rs5891075 IDO2 AU NM_194294 exon10 c.78517+66insTAA 0.426717 0.4196 Uncertain 8_39872668_C->T 8 39872668 39872668 C T snp 381.77 1/1 30 10 0 10 1.0 intronic rs2955902 IDO2 AU NM_194294 exon11 c.80050-97C>T 0.97484 1 Uncertain 8_39872677_A->- 8 39872677 39872677 A - indel 423.73 1/1 45 15 0 15 1.0 intronic rs5891076 IDO2 AU NM_194294 exon11 c.80050-88delA 0.972644 0.997 Uncertain 8_39872866_A->C 8 39872866 39872866 A C snp 5867.77 1/1 99 211 0 211 1.0 exonic rs2981161 IDO2 AU synonymous SNV NM_194294 exon11 c.A1008C p.S336S 0.97484 1 0.977710 0.9935 1 Uncertain 8_39872935_T->A 8 39872935 39872935 T A snp 2491.77 0/1 99 185 82 103 0.56 exonic rs4503083 IDO2 AU stopgain NM_194294 exon11 c.T1077A p.Y359X 0.229832 0.3601 0.175016 0.2257 0.3781 1.000 P Pathogenic 8_39873188_C->T 8 39873188 39873188 C T snp 307.78 1/1 24 9 0 9 1.0 UTR3 rs2981162 IDO2 AU 0.97484 1 Uncertain 8_40011079_G->A 8 40011079 40011079 G A snp 2291.77 1/1 99 85 0 85 1.0 exonic rs6474226 C8orf4 AU nonsynonymous SNV NM_020130 exon1 c.G28A p.V10I 0.986621 1 0.988928 0.9968 1 0.63 T 0.0 P -0.910 T 0.0 T 0.0 T Pathogenic 8_40389842_T->C 8 40389842 40389842 T C snp 4087.77 1/1 99 152 0 152 1.0 intronic rs1429966 ZMAT4 AU NM_024645 exon1 c.16+85T>C 0.861222 0.9663 0.781209 Uncertain 8_40389934_AA->- 8 40389934 40389935 AA - indel 606.73 1/1 39 15 0 15 1.0 intronic rs398067767 ZMAT4 AU NM_024645 exon1 c.16+177_16+178delAA 0.860024 0.9782 Uncertain 8_40532142_A->C 8 40532142 40532142 A C snp 655.77 0/1 99 49 21 28 0.57 intronic rs10504034 ZMAT4 AU NM_024645 exon3 c.142481-80A>C 0.277157 0.2629 Uncertain 8_40554742_C->T 8 40554742 40554742 C T snp 862.77 0/1 99 66 29 37 0.56 intronic rs11781516 ZMAT4 AU NM_024645 exon4 c.165022-21C>T 0.570288 0.5546 0.521913 0.5191 0.5667 Uncertain 8_40665997_A->G 8 40665997 40665997 A G snp 2427.77 1/1 99 90 0 90 1.0 intronic rs1512214 ZMAT4 AU NM_024645 exon6 c.293352-17096A>G 0.983826 1 Uncertain 8_40666189_T->C 8 40666189 40666189 T C snp 1907.77 1/1 99 62 0 62 1.0 intronic rs11777437 ZMAT4 AU NM_024645 exon6 c.293352-16904T>C 0.596645 0.5456 Uncertain 8_40666257_A->C 8 40666257 40666257 A C snp 267.77 0/1 99 19 10 9 0.47 intronic rs11776726 ZMAT4 AU NM_024645 exon6 c.293352-16836A>C 0.376597 0.3313 Uncertain 8_40683043_C->T 8 40683043 40683043 C T snp 630.77 0/1 99 30 8 22 0.73 intronic rs3750202 ZMAT4 AU NM_024645 exon6 c.293352-50C>T 0.0740815 0.1528 0.016790 0.0725 0.1403 Uncertain 8_41166638_GCT->- 8 41166638 41166640 GCT - indel 1271.73 0/1 99 89 44 45 0.51 exonic rs3055861 SFRP1 AU nonframeshift deletion NM_003012 exon1 c.39_41del p.13_14del 0.311102 0.4038 0.259952 0.4030 0.4208 ID=COSM3719034,COSM1167762;OCCURENCE=1(skin),1(haematopoietic_and_lymphoid_tissue) Uncertain 8_41297486_-->TTTG 8 41297486 41297486 - TTTG indel 3102.73 1/1 99 109 1 108 0.99 intergenic rs10637700 SFRP1 AU 0.748003 0.9484 0.6210 0.75 Uncertain 8_41387921_C->T 8 41387921 41387921 C T snp 31.77 0/1 60 15 12 3 0.2 intronic rs7819949 GINS4 AU NM_032336 exon2 c.96+104C>T 0.404752 0.373 Uncertain 8_41391588_A->G 8 41391588 41391588 A G snp 155.77 0/1 97 10 4 6 0.6 intronic rs10096250 GINS4 AU NM_032336 exon3 c.6157-2290A>G 0.698283 0.755 Uncertain 8_41391704_A->G 8 41391704 41391704 A G snp 219.77 0/1 99 24 12 12 0.5 intronic rs10096369 GINS4 AU NM_032336 exon3 c.6157-2174A>G 0.761981 0.6806 0.7855 0.7209 0.27 T 0.0 P -0.968 T Uncertain 8_41469807_C->T 8 41469807 41469807 C T snp 1520.77 0/1 99 123 60 63 0.51 intronic rs3802313 AGPAT6 AU NM_178819 exon7 c.13134+15C>T 0.0109824 0.0526 0.000769 0.0050 0.0586 Uncertain 8_41517860_G->A 8 41517860 41517860 G A snp 41.77 0/1 70 5 3 2 0.4 intronic rs565491 ANK1 AD NM_001142445 exon2 c.6073-1458G>A 0.29373 0.4435 Uncertain 8_41517958_-->G 8 41517958 41517958 - G indel 2169.73 1/1 99 52 0 52 1.0 intronic rs397705943 ANK1 AD NM_001142445 exon2 c.6073-1360insG 0.9998 1 0.999778 0.9999 1 Uncertain 8_41518872_G->C 8 41518872 41518872 G C snp 181.77 0/1 99 11 5 6 0.55 intronic rs3736217 ANK1 AD NM_001142445 exon2 c.6073-446G>C 0.146565 0.1706 Uncertain 8_41519248_T->C 8 41519248 41519248 T C snp 4857.77 1/1 99 153 0 153 1.0 intronic rs516946 ANK1 AD NM_001142445 exon2 c.6073-70T>C 0.804313 0.8552 0.7853 0.8711 Uncertain 8_41519462_A->G 8 41519462 41519462 A G snp 3571.77 1/1 99 130 0 130 1.0 splicing rs515071 ANK1 AD NM_020478 exon3 c.476+3A>G 0.786342 0.8155 0.749885 0.7805 0.8389 Pathogenic 8_41521469_C->G 8 41521469 41521469 C G snp 144.77 0/1 99 12 7 5 0.42 intronic rs474059 ANK1 AD NM_020478 exon4 c.2277+209C>G 0.554313 0.62 Uncertain 8_41521663_T->C 8 41521663 41521663 T C snp 1871.77 0/1 99 167 86 81 0.49 intronic rs563118 ANK1 AD NM_020478 exon4 c.2277+403T>C 0.56889 0.621 0.5762 0.6014 Uncertain 8_41529856_A->G 8 41529856 41529856 A G snp 5228.77 1/1 99 184 0 184 1.0 intronic rs508112 ANK1 AD NM_001142446 exon5 c.16626-15A>G 0.977636 1 0.972320 0.9921 1 Uncertain 8_41530482_C->G 8 41530482 41530482 C G snp 269.8 1/1 21 9 0 9 1.0 intronic rs499295 ANK1 AD NM_001142446 exon5 c.17185+52C>G 0.952276 1 0.946803 0.9879 1 Uncertain 8_41547660_G->A 8 41547660 41547660 G A snp 108.77 0/1 99 10 6 4 0.4 intronic rs2278621 ANK1 AD NM_001142446 exon10 c.34499-84G>A 0.155152 0.126 Uncertain 8_41553835_G->A 8 41553835 41553835 G A snp 385.77 0/1 99 36 21 15 0.42 intronic rs2304883 ANK1 AD NM_001142446 exon17 c.40635-45G>A 0.307708 0.2966 0.337635 0.3072 0.2781 Uncertain 8_41555366_T->C 8 41555366 41555366 T C snp 185.77 0/1 99 16 9 7 0.44 intronic rs559651 ANK1 AD NM_001142446 exon19 c.42315-194T>C 0.384984 0.5883 Uncertain 8_41555373_G->A 8 41555373 41555373 G A snp 252.77 0/1 99 19 10 9 0.47 intronic rs559000 ANK1 AD NM_001142446 exon19 c.42315-187G>A 0.382987 0.5853 Uncertain 8_41555473_T->C 8 41555473 41555473 T C snp 1291.77 0/1 99 101 52 49 0.49 intronic rs2241896 ANK1 AD NM_001142446 exon19 c.42315-87T>C 0.407149 0.6488 Uncertain 8_41555740_A->G 8 41555740 41555740 A G snp 1838.77 1/1 99 51 0 51 1.0 intronic rs492008 ANK1 AD NM_001142446 exon19 c.42394+101A>G 0.679912 0.8958 Uncertain 8_41574736_A->C 8 41574736 41574736 A C snp 1019.77 1/1 75 33 0 33 1.0 intronic rs575817 ANK1 AD NM_001142446 exon31 c.61324+167A>C 0.999002 1 Uncertain 8_41580607_T->C 8 41580607 41580607 T C snp 1246.77 0/1 99 99 44 55 0.56 intronic rs7826127 ANK1 AD NM_001142446 exon35 c.67397-35T>C 0.367612 0.2589 0.398431 0.3375 0.2320 Uncertain 8_41581287_T->C 8 41581287 41581287 T C snp 111.77 0/1 60 7 2 5 0.71 intronic rs2099861 ANK1 AD NM_001142446 exon36 c.67906+136T>C 0.613219 0.3373 Uncertain 8_41583294_C->T 8 41583294 41583294 C T snp 379.77 0/1 99 24 9 15 0.63 exonic rs2304873 ANK1 AD synonymous SNV NM_000037 exon6 c.G597A p.P199P 0.105032 0.1577 0.102077 0.1382 0.1454 Uncertain 8_41585338_C->T 8 41585338 41585338 C T snp 1272.77 0/1 99 111 55 56 0.5 intronic rs80105440 ANK1 AD NM_001142446 exon40 c.72180-87C>T 0.00239617 0.0119 Uncertain 8_41585438_G->A 8 41585438 41585438 G A snp 1496.77 0/1 99 137 72 65 0.47 exonic rs2304871 ANK1 AD synonymous SNV NM_000037 exon4 c.C315T p.N105N 0.228435 0.2242 0.249654 0.2443 0.1949 Uncertain 8_41585571_C->T 8 41585571 41585571 C T snp 434.77 0/1 99 39 22 17 0.44 intronic rs1872877 ANK1 AD NM_001142446 exon40 c.72279+47C>T 0.566693 0.3363 0.627941 0.5946 0.2949 Uncertain 8_41591643_C->T 8 41591643 41591643 C T snp 1237.77 0/1 99 98 53 45 0.46 intronic rs2304869 ANK1 AD NM_001142446 exon41 c.78342+56C>T 0.108626 0.1548 Uncertain 8_41615429_G->A 8 41615429 41615429 G A snp 564.77 1/1 42 21 0 21 1.0 intronic rs486223 ANK1 AD NM_001142446 exon42 c.102308-124G>A 0.990216 1 Uncertain 8_41804047_C->T 8 41804047 41804047 C T snp 339.77 0/1 99 27 13 14 0.52 intronic rs2980902 KAT6A AD NM_001099412 exon6 c.14386-61C>T Uncertain 8_42013563_-->ATG 8 42013563 42013563 - ATG indel 14664.7 1/1 99 245 0 245 1.0 intronic rs10639834 AP3M2 AU NM_006803 exon2 c.273+1085insATG 0.85004 0.9603 0.8769 0.9478 Uncertain 8_42013778_T->C 8 42013778 42013778 T C snp 99.28 1/1 9 3 0 3 1.0 intronic rs6474378 AP3M2 AU NM_006803 exon2 c.273+1300T>C 0.490815 0.498 Uncertain 8_42025838_T->C 8 42025838 42025838 T C snp 2079.77 0/1 99 166 78 88 0.53 intronic rs3827659 AP3M2 AU NM_006803 exon8 c.13123+510T>C 0.103235 0.1885 Uncertain 8_42026393_T->C 8 42026393 42026393 T C snp 1601.77 0/1 99 158 87 71 0.45 intronic rs7016041 AP3M2 AU NM_006803 exon9 c.14273-85T>C 0.465256 0.4583 Uncertain 8_42036577_A->G 8 42036577 42036577 A G snp 834.77 0/1 99 75 37 38 0.51 exonic rs1136159 PLAT AU synonymous SNV NM_000930 exon13 c.T1368C p.S456S 0.103035 0.1885 0.094572 0.1273 0.1934 0.15 T 1.000 P -0.990 T Likely benign 8_42037630_C->T 8 42037630 42037630 C T snp 576.77 0/1 99 46 21 25 0.54 intronic rs2020923 PLAT AU NM_033011 exon3 c.4074+46C>T 0.103435 0.1885 0.094649 0.1268 0.1937 Uncertain 8_42037924_T->A 8 42037924 42037924 T A snp 5111.77 1/1 99 179 0 179 1.0 intronic rs2020922 PLAT AU NM_033011 exon4 c.4386+28T>A 0.809305 0.7331 0.782254 0.7424 0.7545 Uncertain 8_42044897_C->T 8 42044897 42044897 C T snp 1423.77 0/1 99 150 84 66 0.44 intronic rs8178749 PLAT AU NM_033011 exon9 c.11405-18C>T 0.116613 0.1885 0.109795 0.1338 0.1957 Uncertain 8_42044954_G->A 8 42044954 42044954 G A snp 1606.77 0/1 99 124 55 69 0.56 exonic rs1058720 PLAT AU synonymous SNV NM_000930 exon6 c.C501T p.D167D 0.510783 0.504 0.505997 0.5507 0.5297 Uncertain 8_42045655_C->T 8 42045655 42045655 C T snp 152.77 0/1 99 13 7 6 0.46 intronic rs2070713 PLAT AU NM_033011 exon10 c.12024+121C>T 0.348243 0.4633 Uncertain 8_42172017_C->G 8 42172017 42172017 C G snp 2802.77 1/1 99 85 0 85 1.0 intronic rs7814513 IKBKB AR NM_001556 exon9 c.42329+70C>G 0.695288 0.8363 Uncertain 8_42175303_A->T 8 42175303 42175303 A T snp 3399.77 1/1 99 117 0 117 1.0 intronic rs2294100 IKBKB AR NM_001556 exon12 c.45671+14A>T 0.695288 0.8363 0.753421 0.8532 0.8790 Uncertain 8_42186491_G->A 8 42186491 42186491 G A snp 54.74 1/1 6 2 0 2 1.0 intronic rs9785118 IKBKB AR NM_001556 exon21 c.57023-150G>A 0.948482 0.9911 Uncertain 8_42186579_T->C 8 42186579 42186579 T C snp 678.77 0/1 99 37 15 22 0.59 intronic rs2272732 IKBKB AR NM_001556 exon21 c.57023-62T>C 0.658946 0.8343 Uncertain 8_42188550_A->G 8 42188550 42188550 A G snp 1811.77 1/1 99 58 0 58 1.0 UTR3 rs1057741 IKBKB AR 0.948882 0.9911 0.947000 Uncertain 8_42196441_C->T 8 42196441 42196441 C T snp 1364.77 0/1 99 104 48 56 0.54 intronic rs3136717 POLB AU NM_002690 exon2 c.387-88C>T 0.664736 0.8343 Uncertain 8_42207347_A->C 8 42207347 42207347 A C snp 40.77 0/1 33 3 1 2 0.67 intronic rs3136744 POLB AU NM_002690 exon5 c.11382-177A>C 0.11262 0.1022 Uncertain 8_42219048_A->G 8 42219048 42219048 A G snp 152.77 0/1 99 8 3 5 0.63 intronic rs2272615 POLB AU NM_002690 exon10 c.22741+165A>G 0.333666 0.1667 Uncertain 8_42220423_G->A 8 42220423 42220423 G A snp 35.77 0/1 64 6 4 2 0.33 intronic rs3136780 POLB AU NM_002690 exon11 c.24074+207G>A 0.304513 0.1667 Uncertain 8_42227787_T->G 8 42227787 42227787 T G snp 283.77 0/1 99 39 26 13 0.33 intronic rs3136806 POLB AU NM_002690 exon13 c.31364+281T>G 0.223842 0.1369 Uncertain 8_42227789_T->G 8 42227789 42227789 T G snp 145.77 0/1 99 35 25 10 0.29 intronic rs202121458 POLB AU NM_002690 exon13 c.31364+283T>G Uncertain 8_42229059_-->T 8 42229059 42229059 - T indel 825.73 0/1 99 46 17 29 0.63 intronic rs2307163 POLB AU NM_002690 exon14 c.32938-21insT 0.307907 0.1657 0.252236 0.1550 0.1264 Uncertain 8_42231786_G->A 8 42231786 42231786 G A snp 608.77 0/1 99 82 53 29 0.35 exonic rs2073664 DKK4 AU synonymous SNV NM_014420 exon4 c.C507T p.V169V 0.304513 0.1657 0.246040 0.1473 0.1225 Uncertain 8_42232160_C->T 8 42232160 42232160 C T snp 511.77 0/1 99 48 29 19 0.4 intronic rs2073663 DKK4 AU NM_014420 exon2 c.661-118C>T 0.303315 0.1627 Uncertain 8_42232489_A->G 8 42232489 42232489 A G snp 1033.77 0/1 99 91 49 42 0.46 intronic rs2073665 DKK4 AU NM_014420 exon2 c.814+58A>G 0.304113 0.1657 Uncertain 8_42233448_G->A 8 42233448 42233448 G A snp 772.77 0/1 99 48 17 31 0.65 intronic rs10096210 DKK4 AU NM_014420 exon3 c.1731+100G>A 0.345048 0.1657 Uncertain 8_42252500_A->G 8 42252500 42252500 A G snp 142.77 0/1 99 17 11 6 0.35 intronic rs59791694 VDAC3 AU NM_001135694 exon4 c.872-101A>G 0.0942492 0.1022 Uncertain 8_42253960_G->T 8 42253960 42253960 G T snp 118.77 0/1 99 9 4 5 0.56 intronic rs7818866 VDAC3 AU NM_001135694 exon4 c.925+1306G>T 0.0938498 0.1022 Uncertain 8_42259299_A->G 8 42259299 42259299 A G snp 1803.77 0/1 99 133 54 79 0.59 intronic rs3736649 VDAC3 AU NM_001135694 exon7 c.7576-6A>G 0.27476 0.1627 0.224589 0.1343 0.1271 Uncertain 8_42295022_G->A 8 42295022 42295022 G A snp 1950.77 0/1 99 161 85 76 0.47 exonic rs111553899 SLC20A2 AD synonymous SNV NM_006749 exon8 c.C1008T p.H336H 0.0323482 0.0714 0.004383 0.0165 0.0655 Uncertain 8_42403775_C->T 8 42403775 42403775 C T snp 2127.77 0/1 99 215 120 95 0.44 intronic SMIM19 AU NM_138436 exon3 c.2183-23C>T Uncertain 8_42404040_C->T 8 42404040 42404040 C T snp 466.77 1/1 36 14 0 14 1.0 intronic rs2974349 SMIM19 AU NM_138436 exon3 c.2308+117C>T 0.69369 0.5446 Uncertain 8_42608199_G->C 8 42608199 42608199 G C snp 343.78 1/1 27 10 0 10 1.0 UTR3 rs2304297 CHRNA6 AU 0.422923 0.2331 Uncertain 8_42608563_G->A 8 42608563 42608563 G A snp 176.9 1/1 15 6 0 6 1.0 intronic rs7845663 CHRNA6 AU NM_001199279 exon1 c.132+110G>A 0.339058 0.2321 Uncertain 8_42608579_C->T 8 42608579 42608579 C T snp 56.74 1/1 6 2 0 2 1.0 intronic rs7812298 CHRNA6 AU NM_001199279 exon1 c.132+126C>T 0.390974 0.2321 Uncertain 8_42614378_C->A 8 42614378 42614378 C A snp 1112.77 1/1 81 37 0 37 1.0 intronic rs892413 CHRNA6 AU NM_004198 exon4 c.5935+122C>A 0.390176 0.2321 Uncertain 8_42865753_A->C 8 42865753 42865753 A C snp 119.77 0/1 99 7 3 4 0.57 intronic rs56065225 HOOK3 AU NM_032410 exon19 c.113274+205A>C 0.328674 0.5595 Uncertain 8_42868456_T->- 8 42868456 42868456 T - indel 162.75 1/1 24 11 0 11 1.0 intronic rs397891939 HOOK3 AU NM_032410 exon21 c.116197-15delT 0.730232 0.751 0.6696 0.7122 Uncertain 8_42882555_-->TTTGT 8 42882555 42882555 - TTTGT indel 7324.73 1/1 99 96 0 96 1.0 UTR3 rs111931018 HOOK3 AU 0.988419 0.998 0.9991 1 Uncertain 8_42959007_C->A 8 42959007 42959007 C A snp 2115.77 1/1 99 67 0 67 1.0 intronic rs5024011 POMK AR NM_032237 exon4 c.282+34C>A 0.98742 1 0.984699 0.9959 1 Uncertain 8_43013936_C->T 8 43013936 43013936 C T snp 987.77 1/1 72 34 0 34 1.0 intronic rs10958738 HGSNAT AR NM_152419 exon3 c.18215+82C>T 0.685703 0.7937 Uncertain 8_43046395_G->A 8 43046395 43046395 G A snp 93.28 1/1 9 3 0 3 1.0 intronic rs34826093 HGSNAT AR NM_152419 exon12 c.50977-221G>A 0.694888 0.7966 Uncertain 8_43047593_G->A 8 43047593 43047593 G A snp 773.77 0/1 99 83 47 36 0.43 intronic rs17603428 HGSNAT AR NM_152419 exon13 c.51934+20G>A 0.22524 0.2361 0.248974 0.3072 0.2331 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000082653.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 8_43054553_T->C 8 43054553 43054553 T C snp 2399.77 1/1 99 91 0 91 1.0 exonic rs1126058 HGSNAT AR synonymous SNV NM_152419 exon18 c.T1749C p.Y583Y 0.991613 1 0.990661 0.9974 1 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000082655.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 8_47759712_T->G 8 47759712 47759712 T G snp 1514.77 0/1 99 129 61 68 0.53 ncRNA_exonic rs3849804 LINC00293 AU 0.745208 0.8611 0.6144 0.8864 Uncertain 8_47842316_G->A 8 47842316 47842316 G A snp 77.77 0/1 99 8 5 3 0.38 intergenic rs884920 LINC00293 AU 0.327276 0.1855 Uncertain 8_47842901_A->G 8 47842901 47842901 A G snp 738.77 0/1 99 56 27 29 0.52 intergenic rs6995866 LINC00293 AU 0.333466 0.1855 0.3812 0.1269 Uncertain 8_48102786_C->T 8 48102786 48102786 C T snp 74.77 0/1 99 8 5 3 0.38 ncRNA_exonic rs13259872 LOC100287846 AU 0.411941 0.6151 Uncertain 8_48114035_G->C 8 48114035 48114035 G C snp 1360.77 0/1 99 87 34 53 0.61 intergenic rs4379458 LOC100287846 AU 0.17472 0.122 0.168847 0.2141 0.1303 Uncertain 8_48173607_C->T 8 48173607 48173607 C T snp 118.77 0/1 99 13 7 6 0.46 intronic rs58299877 SPIDR AU NM_001080394 exon1 c.33+24C>T 0.28115 0.1964 0.4167 . Uncertain 8_48320564_T->- 8 48320564 48320564 T - indel 804.73 0/1 99 38 14 24 0.63 intronic SPIDR AU NM_001282916 exon6 c.127964+41delT 0.397564 0.619 0.495467 0.5495 0.6723 Uncertain 8_48614639_TCTCTCTCTCTCTCTCTCTCTT->- 8 48614639 48614660 TCTCTCTCTCTCTCTCTCTCTT - indel 1987.73 0/1 99 19 4 15 0.79 intronic SPIDR AU NM_001282916 exon13 c.422018+62_422018+83delTCTCTCTCTCTCTCTCTCTCTT Uncertain 8_48697705_C->T 8 48697705 48697705 C T snp 1475.77 0/1 99 158 90 68 0.43 exonic rs8178235 PRKDC AR unknown 0.00519169 0.0248 0.0026 0.0336 Uncertain 8_48805816_-->G 8 48805816 48805816 - G indel 6353.73 1/1 99 151 0 151 1.0 exonic rs11411516 PRKDC AR unknown 1 1 1.0000 1 Uncertain 8_48828170_T->G 8 48828170 48828170 T G snp 125.77 0/1 69 9 3 6 0.67 intronic rs150355158 PRKDC AR NM_006904 exon64 c.141245+192T>G 0.00459265 0.0218 Uncertain 8_48846519_T->C 8 48846519 48846519 T C snp 525.77 1/1 39 20 0 20 1.0 splicing rs1231202 PRKDC AR NM_006904 exon72 c.159791-5T>C 0.983626 1 0.962270 0.9598 0.9997 Pathogenic 8_48874609_A->G 8 48874609 48874609 A G snp 598.77 0/1 99 60 33 27 0.45 splicing rs2305952 MCM4 AR NM_005914 exon3 c.908-3A>G 0.0241613 0.119 0.000308 0.0095 0.1269 Pathogenic 8_48885436_T->A 8 48885436 48885436 T A snp 2745.77 1/1 99 101 0 101 1.0 exonic rs762679 MCM4 AR nonsynonymous SNV NM_005914 exon13 c.T1948A p.L650M 0.914137 1 0.872982 0.8669 0.9992 0.83 T 1.0 P -0.942 T 0.002 T 0.011 T Pathogenic 8_49641784_A->G 8 49641784 49641784 A G snp 904.77 1/1 30 31 1 30 0.97 intronic rs1482261 EFCAB1 AU NM_001142857 exon3 c.4405+79A>G 0.516174 0.7113 Uncertain 8_49643243_A->G 8 49643243 49643243 A G snp 3707.77 1/1 99 133 2 131 0.98 intronic rs966703 EFCAB1 AU NM_001142857 exon5 c.5903+40A>G 0.829073 0.7688 0.840899 0.8246 0.7572 Uncertain 8_49647435_C->T 8 49647435 49647435 C T snp 90.28 1/1 9 3 0 3 1.0 intronic rs1126259 EFCAB1 AU NM_001142857 exon6 c.10352-217C>T 0.828075 0.7688 Uncertain 8_49987230_A->G 8 49987230 49987230 A G snp 871.77 0/1 99 58 24 34 0.59 UTR3 rs2292399 C8orf22 AU 0.25599 0.3264 Uncertain 8_49987910_G->A 8 49987910 49987910 G A snp 570.77 0/1 99 40 22 18 0.45 UTR3 rs6984804 C8orf22 AU 0.602037 0.7857 Uncertain 8_49987965_A->C 8 49987965 49987965 A C snp 223.77 0/1 99 12 5 7 0.58 UTR3 rs7005693 C8orf22 AU 0.512979 0.7847 Uncertain 8_51306704_A->G 8 51306704 51306704 A G snp 575.77 0/1 99 67 43 24 0.36 intronic rs7015950 SNTG1 AU 0.695487 0.8294 Uncertain 8_51362462_A->G 8 51362462 51362462 A G snp 1015.77 0/1 99 55 15 40 0.73 intronic rs1481475 SNTG1 AU NM_018967 exon6 c.55487+177A>G 0.842053 0.879 Uncertain 8_51363078_C->T 8 51363078 51363078 C T snp 456.77 0/1 99 29 11 18 0.62 intronic rs7817955 SNTG1 AU NM_018967 exon7 c.56317-37C>T 0.841454 0.879 0.874116 0.8671 0.8785 Uncertain 8_51415207_C->A 8 51415207 51415207 C A snp 233.77 0/1 99 18 9 9 0.5 intronic rs2623206 SNTG1 AU NM_018967 exon9 c.108539-130C>A 0.156749 0.1171 Uncertain 8_51571172_G->A 8 51571172 51571172 G A snp 2730.77 1/1 99 97 0 97 1.0 exonic rs1911830 SNTG1 AU synonymous SNV NM_018967 exon15 c.G987A p.T329T 0.506989 0.6786 0.552514 0.6076 0.6579 Uncertain 8_51571370_G->A 8 51571370 51571370 G A snp 550.77 1/1 42 16 0 16 1.0 intronic rs1911831 SNTG1 AU NM_018967 exon15 c.264425+147G>A 0.9998 1 Uncertain 8_51617430_T->A 8 51617430 51617430 T A snp 716.77 1/1 54 20 0 20 1.0 intronic rs7003356 SNTG1 AU NM_018967 exon16 c.310514+118T>A 0.95627 1 Uncertain 8_51664541_-->T 8 51664541 51664541 - T indel 127.73 0/1 99 17 10 7 0.41 intronic rs11429292 SNTG1 AU NM_018967 exon18 c.357762-19insT 0.44389 0.3046 0.3717 0.3127 Uncertain 8_51664842_C->A 8 51664842 51664842 C A snp 76.77 0/1 99 10 6 4 0.4 intronic rs6473337 SNTG1 AU NM_018967 exon18 c.357873+171C>A 0.472843 0.3006 Uncertain 8_51664891_A->G 8 51664891 51664891 A G snp 40.77 0/1 69 5 3 2 0.4 intronic rs7840460 SNTG1 AU NM_018967 exon18 c.357873+220A>G 0.0664936 0.1081 Uncertain 8_52284654_-->A 8 52284654 52284654 - A indel 547.73 1/1 63 31 0 31 1.0 intronic rs398007772 PXDNL AU NM_144651 exon5 c.52191+13insA 0.494209 0.6329 0.5448 0.5461 Uncertain 8_52287041_C->T 8 52287041 52287041 C T snp 56.74 1/1 6 2 0 2 1.0 intronic rs2977003 PXDNL AU NM_144651 exon6 c.54706-115C>T 0.836062 0.9474 Uncertain 8_52321243_T->C 8 52321243 52321243 T C snp 6543.77 1/1 99 230 0 230 1.0 exonic rs2977020 PXDNL AU nonsynonymous SNV NM_144651 exon17 c.A2941G p.M981V 0.831869 0.9335 0.808760 0.8304 0.9269 0.4 T 0.0 P -0.992 T 0.0 T 0.0 T Pathogenic 8_52325879_T->G 8 52325879 52325879 T G snp 3228.29 1/1 99 103 0 103 1.0 intronic rs1560511 PXDNL AU NM_144651 exon9 c.93368+61T>G 0.791334 0.8671 Uncertain 8_52336041_G->C 8 52336041 52336041 G C snp 1426.77 1/1 99 44 1 43 0.98 intronic rs2060107 PXDNL AU NM_144651 exon10 c.103684-93G>C 0.682308 0.627 Uncertain 8_52359454_-->TA 8 52359454 52359454 - TA indel 207.73 0/1 99 19 12 7 0.37 intronic rs569806519 PXDNL AU NM_144651 exon12 c.127113-109insTA Uncertain 8_52361772_G->A 8 52361772 52361772 G A snp 258.77 0/1 99 23 13 10 0.43 intronic rs1431636 PXDNL AU NM_144651 exon13 c.129228+94G>A 0.496206 0.6042 Uncertain 8_52366200_G->A 8 52366200 52366200 G A snp 4449.77 1/1 99 162 0 162 1.0 exonic rs6473599 PXDNL AU synonymous SNV NM_144651 exon10 c.C1128T p.H376H 0.746006 0.6915 0.825385 0.8745 0.6883 Uncertain 8_52366217_G->A 8 52366217 52366217 G A snp 1830.77 0/1 99 162 82 80 0.49 exonic rs6473600 PXDNL AU synonymous SNV NM_144651 exon10 c.C1111T p.L371L 0.152556 0.0605 0.154712 0.1445 0.0623 Uncertain 8_52366300_A->G 8 52366300 52366300 A G snp 892.77 0/1 99 67 33 34 0.51 exonic rs7833909 PXDNL AU nonsynonymous SNV NM_144651 exon10 c.T1028C p.I343T 0.153155 0.0615 0.155263 0.1444 0.0635 0.11 T 0.008 P -0.971 T 0.463 P 0.296 P Pathogenic 8_52384670_A->G 8 52384670 52384670 A G snp 713.77 0/1 99 78 50 28 0.36 intronic rs7839439 PXDNL AU NM_144651 exon16 c.152296-76A>G 0.204673 0.0645 Uncertain 8_52384884_G->A 8 52384884 52384884 G A snp 702.77 0/1 99 85 56 29 0.34 intronic rs10958268 PXDNL AU NM_144651 exon16 c.152414+20G>A 0.241014 0.0645 0.241979 0.1689 0.0673 Uncertain 8_52387486_A->C 8 52387486 52387486 A C snp 161.77 0/1 99 25 18 7 0.28 intronic rs6997795 PXDNL AU NM_144651 exon17 c.155081-45A>C 0.204673 0.0645 0.190642 0.1861 0.0701 Uncertain 8_52396048_C->T 8 52396048 52396048 C T snp 356.77 0/1 99 35 20 15 0.43 intronic rs1431632 PXDNL AU NM_144651 exon18 c.163752-154C>T 0.454273 0.624 Uncertain 8_52412226_G->T 8 52412226 52412226 G T snp 2053.77 0/1 99 198 107 91 0.46 intronic rs755311 PXDNL AU NM_144651 exon19 c.179808-32G>T 0.453275 0.621 0.481035 0.5731 0.6313 Uncertain 8_52730441_T->C 8 52730441 52730441 T C snp 1237.77 0/1 99 250 195 55 0.22 UTR3 rs6768 PCMTD1 AU 0.1808 0.1570 0 D 1 N -1.015 T Uncertain 8_52730521_C->T 8 52730521 52730521 C T snp 6768.77 1/1 99 225 0 225 1.0 UTR3 rs4401853 PCMTD1 AU 0.977037 1 0.9961 1 Uncertain 8_52730530_C->T 8 52730530 52730530 C T snp 1111.77 0/1 99 216 164 52 0.24 UTR3 rs199619900 PCMTD1 AU 0.0299521 0.1141 0.0242 0.1717 Uncertain 8_52733037_C->T 8 52733037 52733037 C T snp 80.77 0/1 99 97 82 15 0.15 exonic rs756958417 PCMTD1 AU synonymous SNV NM_001286782 exon4 c.G720A p.E240E 0.0766 0.0927 Uncertain 8_52733050_T->A 8 52733050 52733050 T A snp 1017.77 0/1 99 113 66 47 0.42 exonic rs12335014 PCMTD1 AU nonsynonymous SNV NM_001286782 exon4 c.A707T p.N236I 0.445487 0.4792 0.489390 0.5638 0.4751 0.13 T 0.958 P -0.961 T 0.467 P 0.133 P Pathogenic 8_52733054_C->T 8 52733054 52733054 C T snp 52.77 0/1 81 120 108 12 0.1 exonic rs116852339 PCMTD1 AU nonsynonymous SNV NM_001286782 exon4 c.G703A p.D235N 0.0501 0.0642 0.11 T 1 D -0.782 T 0.993 D 0.91 D Pathogenic 8_52733055_C->T 8 52733055 52733055 C T snp 407.77 0/1 99 121 90 31 0.26 exonic rs117334240 PCMTD1 AU synonymous SNV NM_001286782 exon4 c.G702A p.E234E 0.0781 0.0959 Uncertain 8_52733076_T->C 8 52733076 52733076 T C snp 910.77 0/1 99 137 83 54 0.39 exonic rs77409139 PCMTD1 AU synonymous SNV NM_001286782 exon4 c.A681G p.E227E 0.2937 0.4400 Uncertain 8_52733079_A->C 8 52733079 52733079 A C snp 347.77 0/1 99 142 118 24 0.17 exonic rs75865149 PCMTD1 AU nonsynonymous SNV NM_001286782 exon4 c.T678G p.S226R 0.0557 0.0961 0.05 T 1.000 D -0.920 T 0.999 D 0.994 D Pathogenic 8_52733128_T->G 8 52733128 52733128 T G snp 1432.77 0/1 99 162 71 91 0.56 exonic rs62506083 PCMTD1 AU nonsynonymous SNV NM_001286782 exon4 c.A629C p.N210T 0.5004 0.5014 0.54 T 1.000 D -0.880 T 0.995 D 0.73 D Pathogenic 8_52733148_C->T 8 52733148 52733148 C T snp 123.77 0/1 99 144 122 22 0.15 exonic rs76104220 PCMTD1 AU synonymous SNV NM_001286782 exon4 c.G609A p.K203K 0.4649 0.4844 Uncertain 8_52733196_C->A 8 52733196 52733196 C A snp 47.77 0/1 76 106 95 11 0.1 exonic rs779616857 PCMTD1 AU nonsynonymous SNV NM_001286782 exon4 c.G561T p.M187I 0.0002 0.0002 0.42 T 0.987 D -1.066 T 0.012 T 0.019 T Pathogenic 8_52733228_G->A 8 52733228 52733228 G A snp 43.77 0/1 72 60 53 7 0.12 exonic rs73592211 PCMTD1 AU nonsynonymous SNV NM_001286782 exon4 c.C529T p.R177C 0.4977 0.4988 0.07 T 1 D -0.644 T 1.0 D 0.899 D CLINSIG=untested;CLNDBN=Malignant_melanoma;CLNREVSTAT=no_assertion_provided;CLNACC=RCV000068335.2;CLNDSDB=MedGen:SNOMED_CT;CLNDSDBID=C0025202:2092003 Pathogenic 8_52733242_C->T 8 52733242 52733242 C T snp 241.77 0/1 99 43 32 11 0.26 exonic rs79820636 PCMTD1 AU nonsynonymous SNV NM_001286782 exon4 c.G515A p.R172H 0.2680 0.2876 0.07 T 1 D -0.480 T 1.0 D 0.998 D Pathogenic 8_52733340_-->T 8 52733340 52733340 - T indel 187.77 1/1 21 7 0 7 1.0 intronic rs35006940 PCMTD1 AU NM_052937 exon1 c.368+62insT 0.596645 0.6329 Uncertain 8_52740194_A->G 8 52740194 52740194 A G snp 425.77 1/1 33 11 0 11 1.0 intronic rs6473659 PCMTD1 AU NM_052937 exon2 c.11093-3809A>G 0.952875 0.998 Uncertain 8_52744336_C->T 8 52744336 52744336 C T snp 139.03 1/1 12 4 0 4 1.0 intronic rs4518654 PCMTD1 AU NM_052937 exon2 c.11217+209C>T 0.960064 0.997 Uncertain 8_52745944_AAAT->- 8 52745944 52745947 AAAT - indel 323.8 1/1 18 6 0 6 1.0 intronic rs138034185 PCMTD1 AU NM_052937 exon3 c.13167-133_13167-130delAAAT 0.596845 0.6329 Uncertain 8_52746153_C->T 8 52746153 52746153 C T snp 1467.77 0/1 99 146 76 70 0.48 exonic rs9298462 PCMTD1 AU synonymous SNV NM_001286782 exon2 c.G279A p.V93V 0.445887 0.4802 0.503537 0.5948 0.5002 1.0 P -0.974 T Likely benign 8_52762882_T->C 8 52762882 52762882 T C snp 86.77 0/1 30 4 1 3 0.75 intronic rs12677168 PCMTD1 AU NM_052937 exon4 c.25413+4559T>C 0.445887 0.4802 Uncertain 8_52811681_A->G 8 52811681 52811681 A G snp 1068.77 1/1 78 39 1 38 0.97 UTR5 rs10106734 PCMTD1 AU 0.960064 0.998 0.9633 1 Uncertain 8_52811758_C->T 8 52811758 52811758 C T snp 240.77 0/1 57 10 2 8 0.8 upstream rs13263909 PCMTD1 AU 0.446286 0.4821 Uncertain 8_52858979_G->A 8 52858979 52858979 G A snp 302.77 0/1 99 33 22 11 0.33 intergenic rs77831588 PCMTD1 AU 0.129992 0.1488 0.1218 0.1184 Uncertain 8_53029130_C->T 8 53029130 53029130 C T snp 538.77 0/1 99 39 18 21 0.54 intronic rs12334321 ST18 AU NM_014682 exon2 c.3221+152C>T 0.372005 0.4494 Uncertain 8_53122457_C->G 8 53122457 53122457 C G snp 37.77 0/1 66 4 2 2 0.5 intronic rs4369003 ST18 AU NM_014682 exon19 c.98881-2181C>G 0.0613019 0.124 Uncertain 8_53124756_G->C 8 53124756 53124756 G C snp 160.77 0/1 66 10 3 7 0.7 intronic rs16917479 ST18 AU NM_014682 exon19 c.98912+87G>C 0.0646965 0.122 0.024331 Uncertain 8_53126985_C->T 8 53126985 53126985 C T snp 159.77 0/1 57 8 2 6 0.75 intronic rs7015251 ST18 AU NM_014682 exon20 c.101093+135C>T 0.168331 0.0764 Uncertain 8_53447256_C->A 8 53447256 53447256 C A snp 430.77 0/1 99 73 51 22 0.3 intronic rs1440798 FAM150A AU 0.372604 0.2341 Uncertain 8_53450969_A->C 8 53450969 53450969 A C snp 237.77 0/1 99 24 11 13 0.54 intronic rs13280500 FAM150A AU 0.216254 0.1825 0.147593 0.1812 0.2501 Uncertain 8_53452359_-->AA 8 53452359 53452359 - AA indel 707.73 ./1 99 50 4 46 0.92 intronic rs34430102 FAM150A AU NM_207413 exon3 c.1388-31insAA 0.0277556 0.0387 0.0626 0.0995 Uncertain 8_53452359_-->A 8 53452359 53452359 - A indel 707.73 ./1 99 50 4 46 0.92 intronic rs34430102 FAM150A AU NM_207413 exon3 c.1388-31insA 0.53135 0.5635 0.4848 0.5152 Uncertain 8_53454826_C->A 8 53454826 53454826 C A snp 1460.77 0/1 99 133 66 67 0.5 intronic rs16917962 FAM150A AU NM_207413 exon4 c.3949-125C>A 0.21845 0.1806 Uncertain 8_53536222_A->C 8 53536222 53536222 A C snp 1346.77 0/1 99 125 61 64 0.51 UTR3 RB1CC1 AU Uncertain 8_53537316_A->G 8 53537316 53537316 A G snp 658.77 0/1 99 70 40 30 0.43 exonic rs1129660 RB1CC1 AU synonymous SNV NM_014781 exon23 c.T4668C p.L1556L 0.285343 0.6558 0.139726 0.2329 0.6546 0 D 1.0 P -0.904 T Likely benign 8_53548375_C->T 8 53548375 53548375 C T snp 130.03 1/1 12 4 0 4 1.0 intronic rs7827526 RB1CC1 AU NM_014781 exon6 c.12233-199C>T 0.810903 0.8165 Uncertain 8_53548691_T->C 8 53548691 53548691 T C snp 194.77 0/1 99 17 8 9 0.53 intronic rs7818347 RB1CC1 AU NM_014781 exon6 c.12288+62T>C 0.335863 0.1617 0.314171 Uncertain 8_53548705_T->C 8 53548705 53548705 T C snp 82.77 0/1 99 10 5 5 0.5 intronic rs12677465 RB1CC1 AU NM_014781 exon6 c.12288+76T>C 0.301717 0.6558 Uncertain 8_53555069_A->G 8 53555069 53555069 A G snp 2844.77 0/1 99 249 127 122 0.49 exonic rs2305427 RB1CC1 AU synonymous SNV NM_014781 exon18 c.T4179C p.R1393R 0.28754 0.6548 0.140704 0.2310 0.6538 Uncertain 8_53569975_G->A 8 53569975 53569975 G A snp 2941.77 0/1 99 249 130 119 0.48 exonic rs186188319 RB1CC1 AU nonsynonymous SNV NM_014781 exon15 c.C2414T p.A805V 0.000599042 0.003 0.0003 0.0047 0.12 T 1 D -1.113 T 0.117 T 0.043 T Pathogenic 8_53570529_C->A 8 53570529 53570529 C A snp 2491.77 1/1 99 82 0 82 1.0 intronic rs12708142 RB1CC1 AU NM_014781 exon11 c.34216-28C>A 1 1 1.0000 0.9999 Uncertain 8_53586706_A->G 8 53586706 53586706 A G snp 3033.77 0/1 99 246 121 125 0.51 exonic rs17337252 RB1CC1 AU nonsynonymous SNV NM_014781 exon7 c.T701C p.M234T 0.502995 0.8393 0.410042 0.5110 0.8329 0.67 T 0.037 P -1.034 T 0.0 T 0.0 T ID=CM063091;DIS=Leukemia, risk, association with;TAG=DP;PUB=16574953 DP Pathogenic 8_53852871_A->T 8 53852871 53852871 A T snp 2698.77 0/1 99 250 151 99 0.4 exonic rs33977775 NPBWR1 AU nonsynonymous SNV NM_005285 exon1 c.A404T p.Y135F 0.0870607 0.12 0.088285 0.1146 0.1436 0 D 1.000 P -0.710 T 1.0 D 0.999 D ID=CM125419;DIS=Altered receptor function;TAG=FP;PUB=22545105 FP Pathogenic 8_54141824_C->T 8 54141824 54141824 C T snp 86.77 0/1 99 17 13 4 0.24 UTR3 rs963549 OPRK1 AU 0.243011 0.0774 0.250192 0.1738 0.0724 Uncertain 8_54142157_T->C 8 54142157 54142157 T C snp 1472.77 0/1 99 146 83 63 0.43 exonic rs702764 OPRK1 AU synonymous SNV NM_000912 exon4 c.A843G p.A281A 0.244609 0.0764 0.252268 0.1701 0.0723 Uncertain 8_54628501_G->A 8 54628501 54628501 G A snp 328.77 0/1 99 45 28 17 0.38 UTR3 rs188305767 ATP6V1H AU 0.000998403 0.005 0.000308 0.0009 0.0077 Uncertain 8_54742024_T->C 8 54742024 54742024 T C snp 1180.77 0/1 99 89 33 56 0.63 exonic rs78251408 ATP6V1H AU nonsynonymous SNV NM_015941 exon4 c.A286G p.M96V 0.00439297 0.0188 0.000154 0.0012 0.0144 0.04 T 0.965 D -0.787 T 0.023 T 0.048 T Pathogenic 8_54742376_G->A 8 54742376 54742376 G A snp 440.77 0/1 99 44 24 20 0.45 intronic rs4738025 ATP6V1H AU NM_213620 exon11 c.113570+283G>A 0.219649 0.4266 Uncertain 8_54745538_C->G 8 54745538 54745538 C G snp 3212.77 1/1 99 123 0 123 1.0 splicing rs6991513 ATP6V1H AU NM_213620 exon12 c.117020-5C>G 0.858027 0.8671 0.837537 0.8065 0.8857 Pathogenic 8_54859029_T->C 8 54859029 54859029 T C snp 56.74 1/1 6 2 0 2 1.0 intronic rs16919699 RGS20 AU NM_170587 exon4 c.94765-195T>C 0.498203 0.7113 Uncertain 8_54866491_C->A 8 54866491 54866491 C A snp 889.77 1/1 66 26 0 26 1.0 intronic rs6981243 RGS20 AU NM_170587 exon5 c.102176-144C>A 0.61242 0.8403 Uncertain 8_54899849_T->C 8 54899849 54899849 T C snp 50.74 1/1 6 2 0 2 1.0 intronic rs11997954 TCEA1 AU NM_201437 exon5 c.18922+264T>C 0.55651 0.7341 Uncertain 8_54965473_C->T 8 54965473 54965473 C T snp 832.77 0/1 99 57 29 28 0.49 intronic rs74468971 LYPLA1 AU NM_006330 exon3 c.4692+157C>T 0.0273562 0.0873 Uncertain 8_54966073_G->C 8 54966073 54966073 G C snp 130.03 1/1 12 5 1 4 0.8 intronic rs75414323 LYPLA1 AU NM_006330 exon3 c.4692+757G>C 0.158946 0.4236 Uncertain 8_55047706_C->G 8 55047706 55047706 C G snp 135.03 1/1 12 5 0 5 1.0 upstream rs2292590 MRPL15 AU 0.365615 0.7173 Uncertain 8_55047719_C->G 8 55047719 55047719 C G snp 257.8 1/1 21 8 0 8 1.0 upstream rs2292589 MRPL15 AU 0.496206 0.7173 Uncertain 8_55048118_G->T 8 55048118 55048118 G T snp 591.77 1/1 45 21 0 21 1.0 intronic rs12679542 MRPL15 AU NM_014175 exon1 c.108+167G>T 0.465855 0.7173 Uncertain 8_55049255_G->T 8 55049255 55049255 G T snp 3045.77 1/1 99 118 0 118 1.0 intronic rs2271567 MRPL15 AU NM_014175 exon2 c.1382+30G>T 0.366414 0.7173 0.142473 0.2597 0.7219 Uncertain 8_55050047_A->G 8 55050047 55050047 A G snp 561.77 1/1 42 17 0 17 1.0 intronic rs7830051 MRPL15 AU NM_014175 exon3 c.2150+54A>G 0.497404 0.7192 Uncertain 8_55059927_T->G 8 55059927 55059927 T G snp 1243.77 1/1 90 41 0 41 1.0 intronic rs12679103 MRPL15 AU NM_014175 exon5 c.12098-14T>G 0.378594 0.7192 0.158834 0.2821 0.7302 Uncertain 8_55586495_C->T 8 55586495 55586495 C T snp 4241.77 1/1 99 160 2 158 0.99 intergenic rs77213466 RP1 AR,AD 0.0569089 0.1726 0.0189 0.1515 Uncertain 8_55613902_C->T 8 55613902 55613902 C T snp 139.03 1/1 12 4 0 4 1.0 intergenic rs858396 RP1 AR,AD 0.757388 0.5536 Uncertain 8_55632762_C->T 8 55632762 55632762 C T snp 3914.77 1/1 99 154 0 154 1.0 intergenic rs1437782 RP1 AR,AD 0.351238 0.4891 0.3559 0.4899 0.57 T 1.000 P -1.002 T 0.052 T 0.003 T Uncertain 8_56047961_T->C 8 56047961 56047961 T C snp 531.77 0/1 99 29 12 17 0.59 intronic rs78435240 XKR4 AU NM_052898 exon1 c.806+32107T>C 0.144569 0.2619 Uncertain 8_56048060_T->A 8 56048060 56048060 T A snp 1124.77 0/1 99 140 84 56 0.4 intronic rs1480763 XKR4 AU NM_052898 exon1 c.806+32206T>A 0.532947 0.6319 Uncertain 8_56048107_C->T 8 56048107 56048107 C T snp 1296.77 0/1 99 157 96 61 0.39 intronic rs1480764 XKR4 AU NM_052898 exon1 c.806+32253C>T 0.532348 0.631 0.6588 0.6970 Uncertain 8_56054696_C->T 8 56054696 56054696 C T snp 1653.77 0/1 99 177 103 74 0.42 intronic rs11785942 XKR4 AU NM_052898 exon1 c.806+38842C>T 0.265575 0.3859 0.2881 0.4091 Uncertain 8_56074043_G->C 8 56074043 56074043 G C snp 1011.77 1/1 75 31 0 31 1.0 intronic rs2306453 XKR4 AU NM_052898 exon1 c.806+58189G>C 0.0563099 0.1151 Uncertain 8_56074051_T->C 8 56074051 56074051 T C snp 1148.77 1/1 84 37 0 37 1.0 intronic rs2306454 XKR4 AU NM_052898 exon1 c.806+58197T>C 0.0563099 0.1151 Uncertain 8_56076709_TGC->- 8 56076709 56076711 TGC - indel 4672.73 1/1 99 76 0 76 1.0 intronic rs138779096 XKR4 AU NM_052898 exon1 c.806+60855_806+60857delTGC 0.0549121 0.1151 0.0272 0.1216 Uncertain 8_56076886_A->G 8 56076886 56076886 A G snp 5041.77 1/1 99 180 0 180 1.0 intronic rs2291184 XKR4 AU NM_052898 exon1 c.806+61032A>G 0.440495 0.375 0.3770 0.4638 Uncertain 8_56637895_T->A 8 56637895 56637895 T A snp 190.77 0/1 99 17 8 9 0.53 intergenic rs10098084 XKR4 AU 0.473243 0.4127 Uncertain 8_56656195_T->C 8 56656195 56656195 T C snp 2432.77 1/1 99 88 0 88 1.0 intronic rs7836019 TMEM68 AU NM_001286657 exon2 c.3489+16T>C 0.907149 0.9871 0.8561 0.9899 Uncertain 8_56657801_C->T 8 56657801 56657801 C T snp 59.74 1/1 6 3 0 3 1.0 intronic rs4738457 TMEM68 AU NM_001286661 exon2 c.4932+121C>T 0.704872 0.7093 Uncertain 8_56675419_A->T 8 56675419 56675419 A T snp 2098.77 0/1 99 220 120 100 0.45 exonic rs184850575 TMEM68 AU nonsynonymous SNV NM_001286657 exon2 c.T100A p.L34M 0.000199681 0.001 4.123e-05 0.0002 0.1 T 1 N -0.951 T 0.996 D 0.931 D Pathogenic 8_56686224_T->C 8 56686224 56686224 T C snp 3322.77 1/1 99 116 0 116 1.0 exonic rs1818 TGS1 AU nonsynonymous SNV NM_024831 exon1 c.T47C p.I16T 0.860423 0.9901 0.846379 0.8710 0.9921 0.5 T 0.0 P -0.921 T 0.09 T 0.036 T Pathogenic 8_56792586_G->A 8 56792586 56792586 G A snp 1118.77 0/1 99 93 47 46 0.49 UTR5 rs1050855 LYN AU 0.527157 0.6349 0.5321 0.6746 Uncertain 8_56792685_G->A 8 56792685 56792685 G A snp 1915.77 1/1 99 73 0 73 1.0 intronic rs167999 LYN AU 0.851837 0.7917 0.8375 0.8235 Uncertain 8_56910701_G->A 8 56910701 56910701 G A snp 129.03 1/1 12 4 0 4 1.0 intronic rs4738466 LYN AU NM_002350 exon11 c.56486-203G>A 0.900359 0.9683 Uncertain 8_56911861_A->G 8 56911861 56911861 A G snp 327.78 1/1 27 9 0 9 1.0 intronic rs2175487 LYN AU NM_002350 exon12 c.57558-115A>G 0.882788 0.9335 Uncertain 8_57078933_G->T 8 57078933 57078933 G T snp 1248.77 0/1 99 95 49 46 0.48 exonic rs35883156 PLAG1 AU nonsynonymous SNV NM_001114635 exon3 c.C1126A p.P376T 0.109824 0.0893 0.135322 0.1503 0.0781 0.75 T 0.003 P -0.929 T 0.063 T 0.012 T Pathogenic 8_57125270_T->C 8 57125270 57125270 T C snp 263.77 0/1 99 36 21 15 0.42 intronic rs6474051 CHCHD7 AU 0.830871 0.9345 Uncertain 8_57285647_T->G 8 57285647 57285647 T G snp 1606.77 0/1 99 152 79 73 0.48 intergenic rs10091783 SDR16C5 AU 0.350839 0.373 Uncertain 8_57287545_C->T 8 57287545 57287545 C T snp 30.77 0/1 59 5 3 2 0.4 ncRNA_intronic rs11774683 SDR16C6P AU 0.351038 0.373 Uncertain 8_57294501_T->C 8 57294501 57294501 T C snp 697.77 0/1 99 52 22 30 0.58 ncRNA_exonic rs10216893 SDR16C6P AU 0.351038 0.373 Uncertain 8_57294571_C->G 8 57294571 57294571 C G snp 648.77 0/1 99 47 20 27 0.57 ncRNA_exonic rs10216409 SDR16C6P AU 0.422923 0.373 0.368375 Uncertain 8_57295200_C->T 8 57295200 57295200 C T snp 2754.77 1/1 99 89 0 89 1.0 ncRNA_intronic rs7002482 SDR16C6P AU 0.796925 0.8056 Uncertain 8_57335839_T->C 8 57335839 57335839 T C snp 966.77 0/1 99 113 63 50 0.44 intergenic rs10101218 SDR16C6P AU 0.216853 0.2361 Uncertain 8_57335918_G->C 8 57335918 57335918 G C snp 735.77 0/1 99 81 43 38 0.47 intergenic rs10110961 SDR16C6P AU 0.229233 0.2361 0.2560 0.2955 Uncertain 8_57349380_C->T 8 57349380 57349380 C T snp 548.77 0/1 99 44 25 19 0.43 intergenic rs13268089 SDR16C6P AU 0.33726 0.377 Uncertain 8_57353827_G->- 8 57353827 57353827 G - indel 1508.73 0/1 99 87 46 41 0.47 UTR3 rs3839874 PENK AU 0.326677 0.3899 0.334239 0.4172 0.3549 Uncertain 8_57358251_C->T 8 57358251 57358251 C T snp 929.77 0/1 99 80 45 35 0.44 intronic rs3808634 PENK AU NM_001135690 exon2 c.4544-123C>T 0.223243 0.2351 0.3695 0.3706 0 D 0.0 P -0.983 T 0.035 T 0.003 T Uncertain 8_57358564_G->- 8 57358564 57358564 G - indel 5146.73 1/1 99 134 0 134 1.0 ncRNA_exonic rs3840716 LOC101929415 AU 0.866214 0.8948 0.806998 0.8026 0.8586 Uncertain 8_57358682_G->C 8 57358682 57358682 G C snp 48.74 1/1 6 2 0 2 1.0 ncRNA_exonic rs1975285 LOC101929415 AU 0.866014 0.8948 Uncertain 8_59343282_T->C 8 59343282 59343282 T C snp 1339.77 1/1 99 41 0 41 1.0 intronic rs11989326 UBXN2B AU NM_001077619 exon3 c.19284+54T>C 0.169129 0.1627 Uncertain 8_59345705_G->C 8 59345705 59345705 G C snp 804.77 1/1 57 32 0 32 1.0 intronic rs16923472 UBXN2B AU NM_001077619 exon4 c.21774-13G>C 0.169129 0.1627 0.206970 0.1787 0.1732 Uncertain 8_59347184_A->G 8 59347184 59347184 A G snp 899.77 1/1 66 30 0 30 1.0 intronic rs1993453 UBXN2B AU NM_001077619 exon5 c.23119+121A>G 0.723842 0.7669 Uncertain 8_59411042_G->A 8 59411042 59411042 G A snp 2016.77 0/1 99 172 90 82 0.48 intronic rs2162459 CYP7A1 AU NM_000780 exon5 c.6995+14G>A 0.489617 0.3958 0.533754 0.5540 0.4453 Uncertain 8_59512334_G->A 8 59512334 59512334 G A snp 5438.77 1/1 99 211 0 211 1.0 exonic rs2680903 NSMAF AU synonymous SNV NM_001144772 exon18 c.C1521T p.D507D 0.929313 0.9792 0.914424 0.9309 0.9709 Uncertain 8_59515756_G->A 8 59515756 59515756 G A snp 904.77 0/1 99 92 54 38 0.41 intronic rs2255834 NSMAF AU NM_001144772 exon19 c.19104-12G>A 0.450479 0.4276 0.474089 0.5401 0.4899 Uncertain 8_59535859_-->CG 8 59535859 59535859 - CG indel 559.73 0/1 99 24 6 18 0.75 intronic rs112550046 NSMAF AU NM_001144772 exon23 c.39167+28insCG Uncertain 8_59535860_T->A 8 59535860 59535860 T A snp 374.77 0/1 95 24 6 18 0.75 intronic rs115290812 NSMAF AU NM_001144772 exon23 c.39167+29T>A Uncertain 8_59535861_T->A 8 59535861 59535861 T A snp 374.77 0/1 95 24 6 18 0.75 intronic rs116544617 NSMAF AU NM_001144772 exon23 c.39167+30T>A 0.275958 0.2927 Uncertain 8_59544252_A->T 8 59544252 59544252 A T snp 34.77 0/1 63 11 7 4 0.36 intronic rs17206746 NSMAF AU NM_001144772 exon26 c.47441+147A>T 0.247204 0.3433 Uncertain 8_59547804_C->A 8 59547804 59547804 C A snp 163.77 0/1 99 35 24 11 0.31 intronic rs10113830 NSMAF AU NM_001144772 exon27 c.51120+20C>A 0.242212 0.3423 0.238304 0.2752 0.2992 Uncertain 8_59555731_T->A 8 59555731 59555731 T A snp 477.77 0/1 99 36 18 18 0.5 intronic rs1387222 NSMAF AU NM_001144772 exon30 c.58968+99T>A 0.320288 0.3413 Uncertain 8_59571856_A->C 8 59571856 59571856 A C snp 278.77 0/1 99 53 40 13 0.25 exonic rs59606339 NSMAF AU nonsynonymous SNV NM_001144772 exon1 c.T50G p.I17S 0.269169 0.497 0.1074 0.4808 0.0 P -0.927 T 0.0 T 0.0 T Pathogenic 8_59720604_G->A 8 59720604 59720604 G A snp 1083.77 1/1 81 27 0 27 1.0 intronic rs2726600 TOX AU NM_014729 exon2 c.371-72G>A 0.766973 0.9276 ID=CR131732;DIS=Pulmonary tuberculosis, association with;TAG=DP;PUB=23415668 DP Uncertain 8_61139280_C->T 8 61139280 61139280 C T snp 499.77 1/1 39 18 0 18 1.0 intronic rs12549573 CA8 AR NM_004056 exon5 c.18088-151C>T 0.883187 0.7312 Uncertain 8_61139319_C->T 8 61139319 61139319 C T snp 1054.77 1/1 78 32 0 32 1.0 intronic rs12549574 CA8 AR NM_004056 exon5 c.18088-112C>T 0.306909 0.2063 Uncertain 8_61178677_T->- 8 61178677 61178677 T - indel 212.73 0/1 94 23 5 18 0.78 intronic rs557692285 CA8 AR NM_004056 exon7 c.57265+69delT 0.629792 0.4931 Uncertain 8_61193453_A->G 8 61193453 61193453 A G snp 37.77 0/1 66 6 4 2 0.33 intronic rs7002846 CA8 AR NM_004056 exon9 c.72263-153A>G 0.627596 0.4851 Uncertain 8_61193522_A->G 8 61193522 61193522 A G snp 406.77 0/1 99 28 13 15 0.54 intronic rs7002871 CA8 AR NM_004056 exon9 c.72263-84A>G 0.626398 0.4782 Uncertain 8_61193570_C->T 8 61193570 61193570 C T snp 926.77 0/1 99 75 35 40 0.53 intronic rs74792169 CA8 AR NM_004056 exon9 c.72263-36C>T 0.183506 0.2103 0.143374 0.1551 0.2099 Uncertain 8_61193760_T->G 8 61193760 61193760 T G snp 594.77 0/1 99 66 36 30 0.45 UTR5 rs10101374 CA8 AR 0.626597 0.4792 Uncertain 8_61193809_A->G 8 61193809 61193809 A G snp 242.77 0/1 99 27 15 12 0.44 UTR5 rs10086341 CA8 AR 0.625799 0.4772 Uncertain 8_61429877_G->A 8 61429877 61429877 G A snp 601.77 0/1 99 55 29 26 0.47 intronic rs79102981 RAB2A AU NM_002865 exon1 c.46+65G>A 0.180112 0.2669 Uncertain 8_61484788_C->G 8 61484788 61484788 C G snp 267.28 0/1 9 11 1 10 0.91 intronic rs3735825 RAB2A AU NM_002865 exon3 c.54906+116C>G 0.436502 0.5694 Uncertain 8_61488824_T->C 8 61488824 61488824 T C snp 1616.77 0/1 99 171 92 79 0.46 intronic rs2981277 RAB2A AU NM_002865 exon3 c.54906+4152T>C 0.533347 0.5903 0.5126 0.5455 Uncertain 8_61488859_A->G 8 61488859 61488859 A G snp 1649.77 0/1 99 167 92 75 0.45 intronic rs2946154 RAB2A AU NM_002865 exon3 c.54906+4187A>G 0.634984 0.5913 0.5752 0.5455 Uncertain 8_61496950_C->T 8 61496950 61496950 C T snp 325.77 0/1 99 22 9 13 0.59 intronic rs3735826 RAB2A AU NM_002865 exon4 c.67083+101C>T 0.616813 0.5913 Uncertain 8_61496982_C->A 8 61496982 61496982 C A snp 67.77 0/1 96 7 3 4 0.57 intronic rs3735827 RAB2A AU NM_002865 exon4 c.67083+133C>A 0.172923 0.2659 Uncertain 8_61655690_G->A 8 61655690 61655690 G A snp 970.77 1/1 72 27 0 27 1.0 intronic rs7836586 CHD7 AU,AD NM_017780 exon2 c.1665+34G>A 0.827077 0.9395 0.762482 0.8119 0.9396 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000145701.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 8_61707725_G->A 8 61707725 61707725 G A snp 2576.77 1/1 99 96 0 96 1.0 intronic rs4540437 CHD7 AU,AD NM_017780 exon4 c.53695+39G>A 0.896965 0.9444 0.822610 0.8316 0.9388 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000145702.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 8_61713126_-->TGGACT 8 61713126 61713126 - TGGACT indel 12022.7 1/1 99 155 0 155 1.0 intronic rs397687085 CHD7 AU,AD NM_017780 exon5 c.59093+42insTGGACT 0.828674 0.9444 0.746549 0.7954 0.9327 Uncertain 8_61713231_C->A 8 61713231 61713231 C A snp 430.77 0/1 99 44 26 18 0.41 intronic rs3890803 CHD7 AU,AD NM_017780 exon5 c.59093+147C>A 0.349641 0.4633 Uncertain 8_61714245_A->G 8 61714245 61714245 A G snp 950.77 1/1 69 34 0 34 1.0 intronic rs10448027 CHD7 AU,AD NM_017780 exon6 c.60161+93A>G 0.908347 0.9633 Uncertain 8_61732521_A->G 8 61732521 61732521 A G snp 1272.77 1/1 93 44 0 44 1.0 intronic rs6471902 CHD7 AU,AD NM_017780 exon9 c.78574-44A>G 0.852835 0.9405 0.779904 0.8259 0.9326 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000145703.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 8_61734295_A->G 8 61734295 61734295 A G snp 337.77 0/1 99 19 8 11 0.58 intronic rs4509369 CHD7 AU,AD NM_017780 exon10 c.80357-53A>G 0.378195 0.4802 Uncertain 8_61734482_G->A 8 61734482 61734482 G A snp 1752.77 0/1 99 160 84 76 0.47 exonic rs117506164 CHD7 AU,AD nonsynonymous SNV NM_017780 exon10 c.G2831A p.R944H 0.000798722 0.004 0.000165 0.0007 0.0100 0.3 T 1 D 0.612 D 0.998 D 0.991 D Pathogenic 8_61748893_C->A 8 61748893 61748893 C A snp 765.77 1/1 57 26 0 26 1.0 intronic rs7005873 CHD7 AU,AD NM_017780 exon16 c.94851+51C>A 0.830272 0.9405 0.754400 Uncertain 8_61750860_A->G 8 61750860 61750860 A G snp 3086.77 1/1 99 104 0 104 1.0 intronic rs7844902 CHD7 AU,AD NM_017780 exon19 c.96823+46A>G 0.839058 0.9405 0.766278 0.8137 0.9403 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000145704.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 8_61764076_A->G 8 61764076 61764076 A G snp 688.77 1/1 51 20 0 20 1.0 intronic rs4342642 CHD7 AU,AD NM_017780 exon28 c.109887+198A>G 0.730232 0.7837 Uncertain 8_61764389_G->T 8 61764389 61764389 G T snp 50.74 1/1 6 2 0 2 1.0 intronic rs3763591 CHD7 AU,AD NM_017780 exon29 c.110586-188G>T 0.698083 0.7718 Uncertain 8_61851407_C->A 8 61851407 61851407 C A snp 717.77 0/1 99 76 42 34 0.45 intergenic rs138749865 CHD7 AU,AD 0.170727 0.0923 Uncertain 8_61851466_T->C 8 61851466 61851466 T C snp 761.77 0/1 99 59 25 34 0.58 intergenic rs3748648 CHD7 AU,AD 0.258586 0.2123 Uncertain 8_61851558_A->C 8 61851558 61851558 A C snp 136.03 1/1 12 4 0 4 1.0 intergenic rs4738847 CHD7 AU,AD 0.865815 0.9196 Uncertain 8_61851559_G->A 8 61851559 61851559 G A snp 135.03 1/1 12 4 0 4 1.0 intergenic rs9987236 CHD7 AU,AD 0.868211 0.9206 Uncertain 8_61878921_T->A 8 61878921 61878921 T A snp 655.77 0/1 99 56 28 28 0.5 ncRNA_exonic rs35585682 LOC100130298 AU 0.153954 0.131 0.2020 0.1061 Uncertain 8_62003453_A->G 8 62003453 62003453 A G snp 1557.77 0/1 99 152 77 75 0.49 intergenic rs1367972 LOC100130298 AU 0.554513 0.4772 0.573945 0.5621 0.4688 Uncertain 8_62204677_T->- 8 62204677 62204677 T - indel 124.77 1/1 21 7 0 7 1.0 intronic rs5891799 CLVS1 AU 0.541134 0.6052 Uncertain 8_62289060_C->T 8 62289060 62289060 C T snp 442.77 1/1 36 14 0 14 1.0 intronic rs10957192 CLVS1 AU NM_173519 exon3 c.76777-103C>T 0.507788 0.6696 Uncertain 8_62416074_G->A 8 62416074 62416074 G A snp 1307.77 1/1 93 46 0 46 1.0 splicing rs7005617 ASPH AR NM_001164750 exon1 c.151+6G>A 0.980232 1 0.970552 0.9828 1 Pathogenic 8_62416173_G->A 8 62416173 62416173 G A snp 272.77 0/1 87 12 3 9 0.75 intronic rs16918881 ASPH AR NM_001164750 exon1 c.151+105G>A 0.21226 0.3661 Uncertain 8_62438530_A->G 8 62438530 62438530 A G snp 1410.77 1/1 99 51 0 51 1.0 splicing rs4738904 ASPH AR NM_001164750 exon4 c.22618-5A>G 0.98103 1 0.970245 0.9830 1 Pathogenic 8_62465580_T->C 8 62465580 62465580 T C snp 1294.77 0/1 99 124 68 56 0.45 intronic rs4289805 ASPH AR NM_001164750 exon6 c.49672-9T>C 0.342452 0.3571 0.305474 0.2272 0.3854 Uncertain 8_62465795_T->C 8 62465795 62465795 T C snp 74.77 0/1 99 7 4 3 0.43 intronic rs4291265 ASPH AR NM_001164750 exon6 c.49762+116T>C 0.343051 0.3591 Uncertain 8_62475276_C->T 8 62475276 62475276 C T snp 684.77 0/1 99 60 29 31 0.52 intronic rs3802286 ASPH AR NM_001164750 exon8 c.59385-26C>T 0.766973 0.6151 0.818161 0.8160 0.5770 Uncertain 8_62531670_T->C 8 62531670 62531670 T C snp 158.77 0/1 99 11 4 7 0.64 intronic rs35550451 ASPH AR NM_001164750 exon12 c.115661+92T>C 0.448083 0.5149 Uncertain 8_62545288_C->T 8 62545288 62545288 C T snp 546.77 0/1 99 32 15 17 0.53 intronic rs2882462 ASPH AR NM_001164750 exon13 c.130324-953C>T 0.814097 0.7609 Uncertain 8_62563764_A->G 8 62563764 62563764 A G snp 219.77 0/1 99 18 8 10 0.56 intronic rs7016141 ASPH AR NM_001164750 exon21 c.147766+81A>G 0.805112 0.7569 Uncertain 8_62595068_C->T 8 62595068 62595068 C T snp 1979.77 0/1 99 149 67 82 0.55 intronic rs3750278 ASPH AR NM_001164753 exon12 c.56211+26C>T 0.803514 0.756 0.851838 0.8095 0.7585 Uncertain 8_62626962_C->T 8 62626962 62626962 C T snp 483.77 0/1 99 41 22 19 0.46 UTR5 rs3829051 ASPH AR 0.780551 0.7431 0.821643 0.7935 0.8077 Uncertain 8_62627004_A->G 8 62627004 62627004 A G snp 402.77 0/1 99 31 11 20 0.65 UTR5 rs3750279 ASPH AR 0.780152 0.7431 Uncertain 8_62627510_C->G 8 62627510 62627510 C G snp 780.77 0/1 99 63 30 33 0.52 upstream;downstream rs4272369 ASPH;MIR4470 UN 0.494808 0.5774 Uncertain 8_63161462_G->A 8 63161462 63161462 G A snp 478.77 1/1 36 14 0 14 1.0 upstream rs2272014 NKAIN3 AU 0.545527 0.5288 Uncertain 8_63161612_C->G 8 63161612 63161612 C G snp 1065.77 0/1 99 77 36 41 0.53 UTR5 rs2272013 NKAIN3 AU 0.239816 0.1855 0.199756 0.3696 0.1830 Uncertain 8_63161829_C->A 8 63161829 63161829 C A snp 501.77 1/1 39 14 0 14 1.0 intronic rs5020321 NKAIN3 AU NM_173688 exon1 c.54+143C>A 0.544728 0.5288 Uncertain 8_63257441_T->G 8 63257441 63257441 T G snp 514.77 1/1 39 14 0 14 1.0 intronic rs4442138 NKAIN3 AU NM_173688 exon1 c.54+95755T>G 0.864617 0.9415 0.9113 0.9242 Uncertain 8_63295978_G->T 8 63295978 63295978 G T snp 157.77 0/1 99 12 5 7 0.58 intronic rs62509214 NKAIN3 AU 0.174121 0.3968 Uncertain 8_63296132_T->G 8 63296132 63296132 T G snp 1581.77 1/1 99 60 1 59 0.98 intronic rs10808724 NKAIN3 AU 0.707867 0.7123 0.6770 0.6894 Uncertain 8_63296138_A->T 8 63296138 63296138 A T snp 335.77 0/1 99 58 41 17 0.29 intronic rs62509215 NKAIN3 AU 0.174121 0.3968 Uncertain 8_63502435_TGTGTGTGTGTGTG->- 8 63502435 63502448 TGTGTGTGTGTGTG - indel 655.73 0/1 99 23 2 21 0.91 intronic rs35791396 NKAIN3 AU NM_173688 exon3 c.340721+82_340721+95delTGTGTGTGTGTGTG Uncertain 8_63659610_G->A 8 63659610 63659610 G A snp 903.77 0/1 99 75 36 39 0.52 exonic rs1319275 NKAIN3 AU synonymous SNV NM_001304533 exon4 c.G393A p.T131T 0.429912 0.3095 0.542966 0.5742 0.2953 Uncertain 8_63902715_T->G 8 63902715 63902715 T G snp 361.77 0/1 99 40 23 17 0.42 intergenic rs56081236 UG0898H09 AU 0.311302 0.3621 0.229864 0.3551 0.5420 Uncertain 8_63930289_C->A 8 63930289 63930289 C A snp 209.77 0/1 99 21 14 7 0.33 intronic rs12677953 GGH AU NM_003878 exon2 c.2299+100C>A 0.171925 0.3185 Uncertain 8_63939839_C->T 8 63939839 63939839 C T snp 983.77 0/1 99 92 48 44 0.48 intronic rs2305558 GGH AU NM_003878 exon6 c.11934+15C>T 0.171925 0.3185 0.099646 0.1388 0.3356 Uncertain 8_63942717_C->T 8 63942717 63942717 C T snp 941.77 0/1 99 86 44 42 0.49 intronic rs4617146 GGH AU NM_003878 exon7 c.14835-8C>T 0.251198 0.4306 0.180209 0.2185 0.4211 Uncertain 8_63948073_C->G 8 63948073 63948073 C G snp 274.77 0/1 99 18 7 11 0.61 intronic rs12682204 GGH AU NM_003878 exon8 c.20324-141C>G 0.34405 0.6081 Uncertain 8_63948134_A->G 8 63948134 63948134 A G snp 1024.77 1/1 75 41 0 41 1.0 intronic rs6998383 GGH AU NM_003878 exon8 c.20324-80A>G 0.89357 0.9792 Uncertain 8_63948186_AA->- 8 63948186 63948187 AA - indel 873.73 0/1 99 56 17 39 0.7 intronic rs199816014 GGH AU NM_003878 exon8 c.20324-28_20324-27delAA 0.372005 0.6349 0.3899 0.6276 Uncertain 8_63948198_A->C 8 63948198 63948198 A C snp 749.77 0/1 99 57 25 32 0.56 intronic rs34099334 GGH AU NM_003878 exon8 c.20324-16A>C 0.34385 0.6071 0.3441 0.6057 Uncertain 8_63976677_C->T 8 63976677 63976677 C T snp 689.77 1/1 51 24 0 24 1.0 intronic rs4606052 TTPA AR NM_000370 exon2 c.2954-87C>T 0.616014 0.7619 Uncertain 8_63976754_A->G 8 63976754 63976754 A G snp 1823.77 1/1 99 69 0 69 1.0 intronic rs4501570 TTPA AR NM_000370 exon2 c.2954-10A>G 0.677316 0.7619 0.573208 0.5937 0.7924 Uncertain 8_63978659_A->- 8 63978659 63978659 A - indel 5557.73 1/1 99 190 0 190 1.0 splicing rs398008072 TTPA AR NM_000370 exon3 c.4846+3delA 1 1 0.999920 1.0000 1 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000078673.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 8_64098729_-->G 8 64098729 64098729 - G indel 2461.73 1/1 99 55 0 55 1.0 exonic rs58419856 YTHDF3 AU unknown 1 1 1.0000 1 Uncertain 8_64100493_C->G 8 64100493 64100493 C G snp 94.28 1/1 9 3 0 3 1.0 intronic rs73684689 YTHDF3 AU NM_152758 exon4 c.18867+190C>G 0.123602 0.3343 Uncertain 8_65290650_C->T 8 65290650 65290650 C T snp 999.77 0/1 99 93 46 47 0.51 ncRNA_exonic rs298212 MIR124-2HG AU 0.731629 0.6796 0.6912 0.7727 Uncertain 8_65489055_G->T 8 65489055 65489055 G T snp 2834.77 0/1 99 248 129 119 0.48 ncRNA_exonic rs117016008 LOC401463 AU 0.00339457 0.0159 0.0004 0.0253 Uncertain 8_65493429_T->G 8 65493429 65493429 T G snp 1627.77 1/1 99 67 0 67 1.0 exonic rs7016250 BHLHE22 AU nonsynonymous SNV NM_152414 exon1 c.T82G p.S28A 0.528754 0.5546 0.384988 0.4174 0.5757 1 T 0.000 P -0.944 T 0.0 T 0.0 T Pathogenic 8_66517486_C->T 8 66517486 66517486 C T snp 488.77 0/1 99 29 12 17 0.59 intronic rs3765205 ARMC1 AU NM_018120 exon2 c.869-11C>T 0.363419 0.4355 0.364196 0.3768 0.4694 Uncertain 8_66525548_T->C 8 66525548 66525548 T C snp 636.77 0/1 99 59 30 29 0.49 exonic rs11559265 ARMC1 AU synonymous SNV NM_018120 exon4 c.A396G p.Q132Q 0.25619 0.379 0.249116 0.2921 0.4191 Uncertain 8_66691934_T->A 8 66691934 66691934 T A snp 1577.77 0/1 99 154 84 70 0.45 intronic rs972362 PDE7A AU NM_001242318 exon11 c.60430-20T>A 0.423522 0.0972 0.519529 0.3790 0.0913 Uncertain 8_67068131_T->C 8 67068131 67068131 T C snp 1436.77 1/1 99 45 0 45 1.0 intronic rs2446433 TRIM55 AU NM_033058 exon10 c.28442+186T>C 0.98143 1 Uncertain 8_67411019_T->C 8 67411019 67411019 T C snp 868.77 1/1 63 31 0 31 1.0 intronic rs2251827 C8orf46 AU NM_152765 exon2 c.2844+2292T>C 0.974441 1 0.9665 1 Uncertain 8_67705839_C->T 8 67705839 67705839 C T snp 138.77 0/1 99 32 22 10 0.31 intronic C8orf44-SGK3 AU Uncertain 8_67705841_G->T 8 67705841 67705841 G T snp 83.77 0/1 99 36 27 9 0.25 intronic C8orf44-SGK3 AU Uncertain 8_67755920_C->A 8 67755920 67755920 C A snp 418.77 1/1 33 13 0 13 1.0 intronic rs7008720 C8orf44-SGK3 AU NM_001204173 exon16 c.49811+138C>A 1 1 Uncertain 8_67813633_A->G 8 67813633 67813633 A G snp 1773.77 1/1 99 56 0 56 1.0 UTR3 rs2358008 MCMDC2 AU 0.964257 1 0.919960 0.9200 1 Uncertain 8_67970243_A->G 8 67970243 67970243 A G snp 515.77 0/1 99 37 21 16 0.43 intronic rs6997490 COPS5 AU NM_006837 exon6 c.14850-74A>G 0.678514 0.6448 Uncertain 8_67971819_A->T 8 67971819 67971819 A T snp 56.74 1/1 6 2 0 2 1.0 intronic rs10089495 COPS5 AU NM_006837 exon7 c.16213+139A>T 1 1 Uncertain 8_68200276_T->C 8 68200276 68200276 T C snp 792.77 0/1 99 68 33 35 0.51 exonic rs76811394 ARFGEF1 AU nonsynonymous SNV NM_006421 exon7 c.A941G p.Y314C 0.0241613 0.1062 0.000692 0.0123 0.1120 0.07 T 1 D -1.092 T 0.0 T 0.0 T ID=COSM150498;OCCURENCE=1(stomach) Pathogenic 8_68395836_T->C 8 68395836 68395836 T C snp 292.77 0/1 99 23 12 11 0.48 intronic rs72655000 CPA6 AR,AD NM_020361 exon4 c.61264-166T>C 0.0565096 0.126 Uncertain 8_68864728_G->A 8 68864728 68864728 G A snp 1996.77 1/1 99 77 0 77 1.0 exonic rs61753697 PREX2 AU synonymous SNV NM_024870 exon1 c.G99A p.K33K 0.313299 0.5228 0.230391 0.3599 0.5537 Uncertain 8_68973152_A->C 8 68973152 68973152 A C snp 56.74 1/1 6 2 0 2 1.0 intronic rs6472376 PREX2 AU NM_025170 exon11 c.108385+138A>C 0.584465 0.3284 Uncertain 8_68999925_C->T 8 68999925 68999925 C T snp 1204.77 0/1 99 112 62 50 0.45 intronic rs34854177 PREX2 AU NM_025170 exon19 c.135329-33C>T 0.141573 0.2808 0.094649 0.1385 0.2884 Uncertain 8_69000166_G->C 8 69000166 69000166 G C snp 464.77 0/1 99 67 47 20 0.3 intronic rs9643592 PREX2 AU NM_025170 exon19 c.135415+122G>C 0.00419329 0.0198 Uncertain 8_69002965_A->G 8 69002965 69002965 A G snp 589.77 0/1 99 55 29 26 0.47 intronic rs12544121 PREX2 AU NM_025170 exon20 c.138321+15A>G 0.496805 0.4722 0.449716 0.4503 0.4641 Uncertain 8_69003010_T->- 8 69003010 69003010 T - indel 542.73 0/1 99 28 12 16 0.57 intronic rs34882769 PREX2 AU NM_025170 exon20 c.138321+60delT 0.496206 0.4722 Uncertain 8_69012364_G->A 8 69012364 69012364 G A snp 848.77 0/1 99 52 17 35 0.67 intronic rs1529819 PREX2 AU NM_025170 exon23 c.147449+286G>A 0.49381 0.4663 0.452306 0.4900 0.5116 Uncertain 8_69013865_G->A 8 69013865 69013865 G A snp 216.77 0/1 99 16 9 7 0.44 intronic rs10098030 PREX2 AU NM_025170 exon23 c.147449+1787G>A 0.493011 0.4673 Uncertain 8_69015242_T->C 8 69015242 69015242 T C snp 782.77 0/1 99 72 42 30 0.42 intronic rs1014663 PREX2 AU NM_025170 exon24 c.152743-2130T>C 0.492812 0.4673 0.450471 0.4726 0.4886 Uncertain 8_69016055_A->G 8 69016055 69016055 A G snp 352.77 0/1 99 29 16 13 0.45 intronic rs13262734 PREX2 AU NM_025170 exon24 c.152743-1317A>G 0.503794 0.4633 Uncertain 8_69020237_A->G 8 69020237 69020237 A G snp 246.77 0/1 99 16 8 8 0.5 intronic rs140709064 PREX2 AU NM_024870 exon24 c.155714-106A>G 0.00339457 0.0129 Uncertain 8_69020496_T->C 8 69020496 69020496 T C snp 2419.77 0/1 99 219 105 114 0.52 exonic rs4260880 PREX2 AU synonymous SNV NM_024870 exon24 c.T2868C p.S956S 0.479832 0.4663 0.443872 0.4483 0.4640 Uncertain 8_69033084_G->A 8 69033084 69033084 G A snp 565.77 0/1 99 50 29 21 0.42 intronic rs1160174 PREX2 AU NM_024870 exon30 c.168526-71G>A 0.198283 0.2738 Uncertain 8_69046622_G->A 8 69046622 69046622 G A snp 54.74 1/1 6 2 0 2 1.0 intronic rs3793380 PREX2 AU NM_024870 exon32 c.181882+111G>A 0.4375 0.6885 Uncertain 8_69058536_C->T 8 69058536 69058536 C T snp 305.77 0/1 99 39 21 18 0.46 exonic rs61753703 PREX2 AU nonsynonymous SNV NM_024870 exon34 c.C4180T p.R1394W 0.0129792 0.0327 0.007074 0.0086 0.0396 0 D 1.000 D -0.271 T 1.0 D 0.994 D Pathogenic 8_69103868_A->T 8 69103868 69103868 A T snp 1777.77 1/1 99 49 0 49 1.0 intronic rs3829023 PREX2 AU NM_024870 exon36 c.239327-88A>T 0.0688898 0.1706 Uncertain 8_69104521_A->G 8 69104521 69104521 A G snp 2655.77 1/1 99 97 1 96 0.99 intronic rs6472389 PREX2 AU NM_024870 exon37 c.239940-48A>G 0.939696 1 0.891435 0.9099 0.9995 Uncertain 8_69104619_C->T 8 69104619 69104619 C T snp 4424.77 1/1 99 171 0 171 1.0 exonic rs61753704 PREX2 AU nonsynonymous SNV NM_024870 exon37 c.C4463T p.S1488L 0.0609026 0.1617 0.010995 0.0240 0.1701 0.04 T 1.000 P -1.122 T 0.999 D 0.91 D Pathogenic 8_69136871_T->A 8 69136871 69136871 T A snp 4062.77 1/1 99 148 0 148 1.0 intronic rs940664 PREX2 AU NM_024870 exon39 c.272232+10T>A 0.313099 0.3829 0.229125 0.3222 0.4014 Uncertain 8_69136959_G->A 8 69136959 69136959 G A snp 2793.77 1/1 99 101 0 101 1.0 intronic rs940665 PREX2 AU NM_024870 exon39 c.272232+98G>A 0.417133 0.3919 Uncertain 8_69143520_A->C 8 69143520 69143520 A C snp 1966.77 1/1 99 68 0 68 1.0 intronic rs2280636 PREX2 AU NM_024870 exon40 c.278938-47A>C 0.332867 0.3879 0.243042 0.3137 0.3991 Uncertain 8_69143589_A->G 8 69143589 69143589 A G snp 2547.77 1/1 99 102 0 102 1.0 exonic rs2280637 PREX2 AU synonymous SNV NM_024870 exon40 c.A4797G p.P1599P 0.332668 0.3879 0.244041 0.3394 0.4116 Uncertain 8_69143713_TT->- 8 69143713 69143714 TT - indel 235.73 0/1 99 39 8 31 0.79 UTR3 rs10581964 PREX2 AU 0.423123 0.4157 Uncertain 8_69217174_T->A 8 69217174 69217174 T A snp 1634.77 1/1 99 57 0 57 1.0 ncRNA_intronic rs2692030 C8orf34-AS1 AU 0.560104 0.4038 Uncertain 8_69351912_G->A 8 69351912 69351912 G A snp 1192.77 0/1 99 90 45 45 0.5 intronic rs769660504 C8orf34 AU NM_052958 exon2 c.108634+31G>A 6.807e-05 0.0009 Uncertain 8_69351982_C->T 8 69351982 69351982 C T snp 381.77 1/1 30 12 0 12 1.0 intronic rs2591004 C8orf34 AU NM_052958 exon2 c.108634+101C>T 0.372804 0.3532 Uncertain 8_69688772_G->T 8 69688772 69688772 G T snp 261.77 0/1 99 20 10 10 0.5 intronic rs7833828 C8orf34 AU NM_052958 exon11 c.445437+88G>T 0.439297 0.1835 Uncertain 8_69699756_G->A 8 69699756 69699756 G A snp 1282.77 0/1 99 171 108 63 0.37 exonic rs16935065 C8orf34 AU nonsynonymous SNV NM_052958 exon12 c.G1534A p.A512T 0.168331 0.124 0.182944 0.1662 0.1337 0.054 P -1.012 T 0.0 T 0.002 T Pathogenic 8_70505272_A->G 8 70505272 70505272 A G snp 2205.77 0/1 99 225 125 100 0.44 intronic rs4737996 SULF1 AU NM_001128205 exon8 c.25166+3896A>G 0.786142 0.749 Uncertain 8_70513855_A->G 8 70513855 70513855 A G snp 2026.77 0/1 99 177 93 84 0.47 intronic rs752040 SULF1 AU NM_001128205 exon10 c.37678-33A>G 0.716254 0.752 0.672766 0.7032 0.7072 Uncertain 8_70516969_G->A 8 70516969 70516969 G A snp 191.77 0/1 99 15 7 8 0.53 intronic rs4737284 SULF1 AU NM_001128205 exon13 c.40827-68G>A 0.457468 0.5198 Uncertain 8_70539911_G->A 8 70539911 70539911 G A snp 59.77 0/1 88 14 11 3 0.21 intronic rs4738002 SULF1 AU NM_001128205 exon17 c.63796-95G>A 0.797125 0.7778 Uncertain 8_70540216_C->T 8 70540216 70540216 C T snp 970.77 0/1 99 65 28 37 0.57 intronic rs3802275 SULF1 AU NM_001128205 exon17 c.63891+115C>T 0.676518 0.6776 Uncertain 8_70554689_A->G 8 70554689 70554689 A G snp 158.77 0/1 99 27 19 8 0.3 intronic rs7814130 SULF1 AU NM_001128205 exon22 c.76866+1613A>G 0.521366 0.5417 Uncertain 8_70571313_G->A 8 70571313 70571313 G A snp 1986.77 0/1 99 167 90 77 0.46 UTR3 rs3802278 SULF1 AU 0.331669 0.3968 0.2722 0.34 Uncertain 8_70571531_G->A 8 70571531 70571531 G A snp 863.77 0/1 99 53 19 34 0.64 UTR3 rs6990375 SULF1 AU 0.3125 0.3978 0.3475 0.3824 Uncertain 8_70617568_G->A 8 70617568 70617568 G A snp 107.77 0/1 99 15 10 5 0.33 intronic rs2959578 SLCO5A1 AU NM_030958 exon5 c.32361+104G>A 0.708666 0.5377 Uncertain 8_70744912_G->T 8 70744912 70744912 G T snp 1218.77 0/1 99 100 45 55 0.55 UTR5 rs3750267 SLCO5A1 AU 0.00139776 0.0069 0.0009 0.0117 Uncertain 8_70964399_A->G 8 70964399 70964399 A G snp 1163.77 1/1 84 40 0 40 1.0 exonic rs10089937 PRDM14 AU synonymous SNV NM_024504 exon8 c.T1629C p.D543D 0.645767 0.7302 0.622789 0.6288 0.7306 Uncertain 8_70967607_T->C 8 70967607 70967607 T C snp 3369.77 1/1 99 125 0 125 1.0 exonic rs3750225 PRDM14 AU synonymous SNV NM_024504 exon7 c.A1416G p.Q472Q 0.717652 0.7302 0.691143 0.6484 0.7308 Uncertain 8_70967727_T->C 8 70967727 70967727 T C snp 545.77 1/1 42 20 0 20 1.0 intronic rs3750226 PRDM14 AU NM_024504 exon2 c.3325+91T>C 0.626597 0.7302 Uncertain 8_70978690_C->T 8 70978690 70978690 C T snp 2504.77 1/1 99 91 0 91 1.0 exonic rs3750227 PRDM14 AU synonymous SNV NM_024504 exon5 c.G963A p.T321T 0.161741 0.3155 0.091342 0.0871 0.3351 Uncertain 8_70981311_C->T 8 70981311 70981311 C T snp 657.77 1/1 48 21 0 21 1.0 intronic rs3750229 PRDM14 AU NM_024504 exon7 c.17084-84C>T 0.163339 0.3175 Uncertain 8_71012811_A->G 8 71012811 71012811 A G snp 5226.77 1/1 99 193 0 193 1.0 intergenic rs1106334 PRDM14 AU 0.371206 0.5149 0.302407 0.3003 0.5276 Uncertain 8_71013081_T->G 8 71013081 71013081 T G snp 84.28 1/1 9 3 0 3 1.0 intergenic rs34423616 PRDM14 AU 0.203474 0.3452 Uncertain 8_71033469_C->G 8 71033469 71033469 C G snp 2436.77 1/1 99 77 0 77 1.0 intronic rs3763523 NCOA2 AU NM_006540 exon2 c.7670-67C>G 0.354633 0.5526 Uncertain 8_71050372_C->A 8 71050372 71050372 C A snp 1178.77 1/1 84 43 0 43 1.0 intronic rs3812430 NCOA2 AU NM_006540 exon9 c.24571-65C>A 0.376797 0.5079 Uncertain 8_71069144_G->A 8 71069144 71069144 G A snp 1543.77 0/1 99 128 59 69 0.54 exonic NCOA2 AU nonsynonymous SNV NM_006540 exon11 c.C1456T p.L486F 0.06 T 1 D -1.184 T 1.0 D 0.999 D Pathogenic 8_71486568_G->C 8 71486568 71486568 G C snp 1362.77 1/1 96 53 0 53 1.0 UTR3 rs268566 TRAM1 AU 0.655551 0.6756 0.7986 0.7447 Uncertain 8_71510093_A->G 8 71510093 71510093 A G snp 2340.77 1/1 99 85 0 85 1.0 intronic rs268626 TRAM1 AU NM_014294 exon8 c.22963-36A>G 0.82488 0.6925 0.920114 0.8728 0.7202 Uncertain 8_71512349_A->T 8 71512349 71512349 A T snp 2886.77 1/1 99 109 0 109 1.0 intronic rs268592 TRAM1 AU NM_014294 exon10 c.25151+32A>T 0.60004 0.6766 0.653852 0.6948 0.7103 Uncertain 8_71512377_C->T 8 71512377 71512377 C T snp 2896.77 1/1 99 112 0 112 1.0 intronic rs268593 TRAM1 AU NM_014294 exon10 c.25151+60C>T 0.399161 0.6022 0.322383 Uncertain 8_71550058_G->C 8 71550058 71550058 G C snp 570.77 1/1 42 19 0 19 1.0 ncRNA_intronic rs268571 LACTB2-AS1 AU 0.82528 0.6935 0.920768 0.8748 0.7240 Uncertain 8_71550708_C->T 8 71550708 71550708 C T snp 851.77 1/1 60 35 0 35 1.0 ncRNA_intronic rs49195 LACTB2-AS1 AU 0.397564 0.6012 Uncertain 8_71550895_-->T 8 71550895 71550895 - T indel 197.75 1/1 24 12 0 12 1.0 ncRNA_intronic rs11399242 LACTB2-AS1 AU 0.818730 0.7620 0.6860 Uncertain 8_72111599_A->G 8 72111599 72111599 A G snp 1125.77 0/1 99 115 66 49 0.43 exonic rs10103397 EYA1 AD synonymous SNV NM_000503 exon18 c.T1755C p.H585H 0.476637 0.7688 0.319622 0.3958 0.7836 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000041393.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 8_72111678_T->C 8 72111678 72111678 T C snp 1631.77 0/1 99 161 89 72 0.45 intronic rs10090382 EYA1 AD NM_000503 exon1 c.81+23T>C 0.47504 0.7659 0.318468 0.4037 0.7822 Uncertain 8_72111739_G->C 8 72111739 72111739 G C snp 1216.77 0/1 99 130 73 57 0.44 intronic rs10103852 EYA1 AD NM_000503 exon1 c.81+84G>C 0.472843 0.7629 Uncertain 8_72211295_T->C 8 72211295 72211295 T C snp 3067.77 1/1 99 104 0 104 1.0 exonic rs1445398 EYA1 AD synonymous SNV NM_000503 exon9 c.A813G p.T271T 0.159345 0.4425 0.068738 0.1226 0.4361 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000041395.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 8_72211834_A->C 8 72211834 72211834 A C snp 1430.77 1/1 99 50 0 50 1.0 intronic rs3779747 EYA1 AD NM_000503 exon11 c.100298-38A>C 0.472045 0.6954 0.365979 0.4091 0.7172 Uncertain 8_72935008_C->T 8 72935008 72935008 C T snp 472.77 1/1 36 12 0 12 1.0 ncRNA_intronic rs10085956 MSC-AS1 AU 0.513578 0.7589 Uncertain 8_72935039_C->T 8 72935039 72935039 C T snp 1263.77 1/1 93 38 0 38 1.0 ncRNA_intronic rs10085964 MSC-AS1 AU 0.513578 0.7589 Uncertain 8_72935045_G->C 8 72935045 72935045 G C snp 1617.77 1/1 99 48 0 48 1.0 ncRNA_intronic rs10086177 MSC-AS1 AU 0.709864 0.9187 Uncertain 8_72935944_T->C 8 72935944 72935944 T C snp 50.74 1/1 6 2 0 2 1.0 ncRNA_intronic rs959975 MSC-AS1 AU 0.733027 0.9187 Uncertain 8_72936145_T->C 8 72936145 72936145 T C snp 1087.77 0/1 99 119 67 52 0.44 exonic rs959976 TRPA1 AD nonsynonymous SNV NM_007332 exon26 c.A3053G p.H1018R 0.160144 0.3403 0.134633 0.1815 0.3762 0.67 T 0.0 P -0.930 T 0.0 T 0.0 T Pathogenic 8_72936237_C->A 8 72936237 72936237 C A snp 1853.77 1/1 99 61 1 60 0.98 ncRNA_intronic rs1384001 MSC-AS1 AU 0.505791 0.7579 Uncertain 8_72938332_G->C 8 72938332 72938332 G C snp 903.77 0/1 99 85 44 41 0.48 ncRNA_intronic rs2305017 MSC-AS1 AU 0.228634 0.3413 0.226972 0.2586 0.3667 Uncertain 8_72938357_A->C 8 72938357 72938357 A C snp 637.77 0/1 99 63 32 31 0.49 ncRNA_intronic rs2305018 MSC-AS1 AU 0.210064 0.3413 0.215703 0.2463 0.3450 Uncertain 8_72938359_T->C 8 72938359 72938359 T C snp 718.77 0/1 99 62 32 30 0.48 ncRNA_intronic rs2305019 MSC-AS1 AU 0.228834 0.3423 0.223162 0.2569 0.3636 Uncertain 8_72942210_G->T 8 72942210 72942210 G T snp 2464.77 0/1 99 220 113 107 0.49 splicing rs3824151 TRPA1 AD NM_007332 exon4 c.7064+6G>T 0.675919 0.6935 0.611795 0.6369 0.6800 Pathogenic 8_72962985_G->A 8 72962985 72962985 G A snp 229.77 0/1 99 25 13 12 0.48 ncRNA_intronic rs2120474 MSC-AS1 AU 0.677915 0.6935 0.613563 0.6389 0.6801 Uncertain 8_72963258_T->C 8 72963258 72963258 T C snp 65.77 0/1 94 11 7 4 0.36 ncRNA_intronic rs1025928 MSC-AS1 AU 0.677716 0.6935 Uncertain 8_72965973_G->A 8 72965973 72965973 G A snp 125.77 0/1 99 24 17 7 0.29 ncRNA_exonic rs3735942 MSC-AS1 AU 0.424121 0.5585 0.343995 0.4013 0.5529 Uncertain 8_72966002_G->A 8 72966002 72966002 G A snp 80.77 0/1 99 27 21 6 0.22 exonic rs3735943 TRPA1 AD synonymous SNV NM_007332 exon13 c.C1630T p.L544L 0.580471 0.6905 0.498385 0.5476 0.6776 Uncertain 8_72966124_A->G 8 72966124 72966124 A G snp 53.77 0/1 82 18 15 3 0.17 ncRNA_exonic rs3735944 MSC-AS1 AU 0.580671 0.6905 0.498078 0.5672 0.6901 Uncertain 8_72968098_A->- 8 72968098 72968098 A - indel 1519.73 0/1 99 98 45 53 0.54 ncRNA_exonic rs33967604 MSC-AS1 AU 0.19988 0.2847 0.166613 0.1456 0.3131 Uncertain 8_72969263_A->C 8 72969263 72969263 A C snp 279.77 0/1 99 24 10 14 0.58 intronic rs3779752 TRPA1 AD NM_007332 exon18 c.34112+11A>C 0.132388 0.2718 0.097597 0.1986 0.3441 Uncertain 8_72975620_A->- 8 72975620 72975620 A - indel 636.73 1/1 69 23 0 23 1.0 intronic rs34929058 TRPA1 AD NM_007332 exon23 c.40557-77delA 0.786342 0.9762 Uncertain 8_72975801_T->G 8 72975801 72975801 T G snp 2055.77 1/1 99 80 0 80 1.0 exonic rs7819749 TRPA1 AD nonsynonymous SNV NM_007332 exon5 c.A558C p.K186N 0.827676 0.9752 0.708750 0.7037 0.9881 0.42 T 0.0 P -0.975 T 0.0 T 0.001 T Pathogenic 8_72977703_C->T 8 72977703 72977703 C T snp 575.77 0/1 99 62 37 25 0.4 exonic rs920829 TRPA1 AD nonsynonymous SNV NM_007332 exon4 c.G535A p.E179K 0.19988 0.2847 0.166154 0.1443 0.3102 0.27 T 1.000 P -1.158 T 0.994 D 0.739 D ID=CM112389;DIS=Paradoxical heat sensation, association with;TAG=DFP;PUB=21468319 DFP Pathogenic 8_72981318_G->A 8 72981318 72981318 G A snp 2496.77 0/1 99 190 82 108 0.57 exonic rs28546865 TRPA1 AD synonymous SNV NM_007332 exon3 c.C384T p.N128N 0.199481 0.2847 0.166077 0.1431 0.3099 Uncertain 8_72981327_A->G 8 72981327 72981327 A G snp 5311.77 1/1 99 196 0 196 1.0 exonic rs1811457 TRPA1 AD synonymous SNV NM_007332 exon3 c.T375C p.N125N 0.806909 0.9752 0.691988 0.6981 0.9881 Uncertain 8_72981499_C->T 8 72981499 72981499 C T snp 738.77 0/1 99 61 28 33 0.54 intronic rs10091093 TRPA1 AD NM_007332 exon25 c.46293+66C>T 0.307907 0.3413 Uncertain 8_72981567_C->T 8 72981567 72981567 C T snp 264.77 0/1 99 14 6 8 0.57 intronic rs10091198 TRPA1 AD NM_007332 exon25 c.46293+134C>T 0.199681 0.2847 Uncertain 8_72987369_C->T 8 72987369 72987369 C T snp 760.77 0/1 99 62 30 32 0.52 intronic rs2278654 TRPA1 AD NM_007332 exon27 c.52393-164C>T 0.478235 0.6349 Uncertain 8_72987384_A->T 8 72987384 72987384 A T snp 855.77 0/1 99 78 36 42 0.54 intronic rs2278653 TRPA1 AD NM_007332 exon27 c.52393-149A>T 0.242812 0.3552 Uncertain 8_73117525_T->G 8 73117525 73117525 T G snp 1402.77 0/1 99 169 102 67 0.4 downstream rs1842716 LOC392232 AU 0.397963 0.4028 Uncertain 8_73142382_C->T 8 73142382 73142382 C T snp 1788.77 0/1 99 148 72 76 0.51 ncRNA_exonic rs12541758 LOC392232 AU 0.315895 0.3839 Uncertain 8_73150809_A->G 8 73150809 73150809 A G snp 225.77 0/1 99 14 7 7 0.5 ncRNA_intronic rs117988523 LOC392232 AU 0.0285543 0.1349 Uncertain 8_73152837_A->G 8 73152837 73152837 A G snp 289.77 0/1 99 19 9 10 0.53 ncRNA_intronic rs4559286 LOC392232 AU 0.315296 0.3819 Uncertain 8_73156976_C->T 8 73156976 73156976 C T snp 247.77 0/1 60 13 3 10 0.77 ncRNA_intronic rs2017235 LOC392232 AU 0.598642 0.4067 Uncertain 8_73848139_A->T 8 73848139 73848139 A T snp 489.77 0/1 99 39 20 19 0.49 intronic rs3735829 KCNB2 AU NM_004770 exon3 c.368200-30A>T 0.304712 0.7907 0.056282 0.1667 0.7906 Uncertain 8_73850203_G->A 8 73850203 73850203 G A snp 1859.77 0/1 99 181 101 80 0.44 exonic rs11782118 KCNB2 AU synonymous SNV NM_004770 exon3 c.G2613A p.V871V 0.236222 0.0942 0.350300 0.3309 0.0975 Uncertain 8_73921534_-->GAGGTCGGGAGA 8 73921534 73921534 - GAGGTCGGGAGA indel 8214.73 1/1 99 59 0 59 1.0 intronic rs113373855 TERF1 AU NM_017489 exon1 c.319+94insGAGGTCGGGAGA 0.997804 1 Uncertain 8_73958033_C->T 8 73958033 73958033 C T snp 38.77 0/1 67 5 3 2 0.4 intronic rs3863242 TERF1 AU NM_017489 exon10 c.37074-162C>T 0.291534 0.1478 Uncertain 8_73982161_A->G 8 73982161 73982161 A G snp 901.77 0/1 99 93 56 37 0.4 exonic rs2291219 SBSPON AU nonsynonymous SNV NM_153225 exon4 c.T556C p.W186R 0.575679 0.2937 0.716148 0.6370 0.3039 1 T 0.000 P -0.963 T 0.0 T 0.0 T Pathogenic 8_73983988_-->A 8 73983988 73983988 - A indel 1837.73 ./1 99 70 3 67 0.96 intronic rs777789391 SBSPON AU NM_153225 exon3 c.4439-26insA 0.1118 0.2655 Uncertain 8_73983989_AA->- 8 73983989 73983990 AA - indel 1837.73 ./1 99 70 3 67 0.96 intronic rs3830249 SBSPON AU NM_153225 exon3 c.4439-25_4439-24delAA 0.4902 0.2350 Uncertain 8_73983994_A->T 8 73983994 73983994 A T snp 1200.77 0/1 99 90 43 47 0.52 intronic rs114487364 SBSPON AU NM_153225 exon3 c.4439-20A>T 0.3915 0.1371 Uncertain 8_74005131_A->G 8 74005131 74005131 A G snp 1640.77 0/1 99 169 91 78 0.46 exonic rs59331088 SBSPON AU nonsynonymous SNV NM_153225 exon1 c.T172C p.F58L 0.367212 0.2966 0.366530 0.2938 0.2809 0.79 T 0.0 P -0.979 T 0.0 T 0.0 T Pathogenic 8_74005179_T->G 8 74005179 74005179 T G snp 1400.77 0/1 99 134 74 60 0.45 exonic rs114228241 SBSPON AU synonymous SNV NM_153225 exon1 c.A124C p.R42R 0.117412 0.251 0.034274 0.0498 0.2359 Uncertain 8_74203576_G->A 8 74203576 74203576 G A snp 519.77 1/1 39 19 0 19 1.0 intronic rs4394387 RPL7 AU NM_000971 exon2 c.209+89G>A 0.849241 0.9167 Uncertain 8_74204653_A->T 8 74204653 74204653 A T snp 805.77 0/1 99 83 43 40 0.48 intronic rs2070764 RPL7 AU NM_000971 exon5 c.1362+13A>T 0.486621 0.5288 0.367808 0.4316 0.5137 Uncertain 8_74205815_A->G 8 74205815 74205815 A G snp 514.77 0/1 99 45 22 23 0.51 intronic rs16938604 RPL7 AU NM_000971 exon7 c.2555-18A>G 0.013778 0.0655 0.000461 0.0067 0.0648 ID=COSN168352;OCCURENCE=1(large_intestine) Uncertain 8_74209746_T->C 8 74209746 74209746 T C snp 424.77 0/1 99 35 19 16 0.46 intronic rs34188852 RDH10 AU NM_172037 exon2 c.2140+82T>C 0.286342 0.3819 Uncertain 8_74234193_G->A 8 74234193 74234193 G A snp 2931.77 0/1 99 246 122 124 0.5 ncRNA_exonic rs9298224 LOC101926926 AU 0.13119 0.2083 0.1130 0.1742 Uncertain 8_74440125_-->CAGGAAAATTCAAATAATTTA 8 74440125 74440125 - CAGGAAAATTCAAATAATTTA indel 15337.7 1/1 99 83 0 83 1.0 intronic rs143916422 STAU2 AU NM_001164382 exon3 c.106433+86insCAGGAAAATTCAAATAATTTA 0.874002 0.9147 Uncertain 8_74463089_T->G 8 74463089 74463089 T G snp 1220.77 1/1 90 50 1 49 0.98 UTR3 rs3088139 STAU2 AU 0.922524 0.9147 Uncertain 8_74463725_TTAA->- 8 74463725 74463728 TTAA - indel 1893.73 0/1 99 82 50 32 0.39 UTR3 rs79320778 STAU2 AU 0.0591054 0.0278 Uncertain 8_74463797_T->C 8 74463797 74463797 T C snp 922.77 0/1 99 94 57 37 0.39 UTR3 rs10112019 STAU2 AU 0.571885 0.4653 Uncertain 8_74473876_G->A 8 74473876 74473876 G A snp 2133.77 0/1 99 166 72 94 0.57 intronic rs28418483 STAU2 AU NM_001164380 exon3 c.130948+9322G>A 0.0585064 0.0278 Uncertain 8_74527996_C->T 8 74527996 74527996 C T snp 1134.77 0/1 99 92 43 49 0.53 exonic rs949493 STAU2 AU nonsynonymous SNV NM_001164383 exon3 c.G76A p.V26M 0.854633 0.9692 0.885361 0.8879 0.9626 0.16 T 0.057 P -1.057 T 0.018 T 0.019 T Pathogenic 8_74581109_A->C 8 74581109 74581109 A C snp 43.77 0/1 72 4 2 2 0.5 intronic rs7841920 STAU2 AU NM_001164380 exon10 c.251735-4232A>C 0.851238 0.9802 Uncertain 8_74581290_-->G 8 74581290 74581290 - G indel 6507.73 1/1 99 145 0 145 1.0 intronic rs11419133 STAU2 AU NM_001164380 exon10 c.251735-4051insG 0.994808 1 0.9915 1 Uncertain 8_74706388_A->T 8 74706388 74706388 A T snp 877.77 0/1 99 69 32 37 0.54 intronic rs77335074 UBE2W AU NM_018299 exon1 c.14+38A>T 0.00439297 0.0159 0.004492 0.0052 0.0225 Uncertain 8_74744721_T->C 8 74744721 74744721 T C snp 891.77 0/1 99 49 13 36 0.73 intronic rs7842946 UBE2W AU NM_018299 exon5 c.36371+2014T>C 0.698083 0.9246 Uncertain 8_74782696_T->C 8 74782696 74782696 T C snp 221.77 0/1 99 14 6 8 0.57 intronic rs34722969 UBE2W AU NM_001001481 exon6 c.76200+160T>C 0.303914 0.0744 Uncertain 8_74859123_T->G 8 74859123 74859123 T G snp 1448.77 0/1 99 114 56 58 0.51 intronic rs55903314 TCEB1 AU NM_005648 exon1 c.191+68T>G 0.298123 0.2381 Uncertain 8_74867927_C->G 8 74867927 74867927 C G snp 109.77 0/1 99 16 11 5 0.31 intronic rs72661848 TCEB1 AU NM_005648 exon2 c.9281-218C>G 0.300719 0.2391 0.3635 0.2794 Uncertain 8_74868478_T->C 8 74868478 74868478 T C snp 307.78 1/1 24 8 0 8 1.0 intronic rs7822073 TCEB1 AU NM_005648 exon2 c.9425+189T>C 0.727236 0.6349 Uncertain 8_74888494_C->T 8 74888494 74888494 C T snp 1560.77 0/1 99 111 40 71 0.64 UTR5 rs2306486 TMEM70 AR 0.216653 0.1925 0.244455 0.3545 0.2642 Uncertain 8_74890961_A->G 8 74890961 74890961 A G snp 501.77 0/1 99 41 20 21 0.51 intronic rs62509309 TMEM70 AR NM_017866 exon2 c.2474-29A>G 0.477835 0.3403 0.476242 0.4850 0.3211 Uncertain 8_74893880_C->T 8 74893880 74893880 C T snp 431.77 0/1 99 25 9 16 0.64 UTR3 rs7108 TMEM70 AR 0.47504 0.3403 0.465091 0.4946 0.3373 Uncertain 8_74917084_A->G 8 74917084 74917084 A G snp 3807.77 1/1 99 145 0 145 1.0 exonic rs6472812 LY96 AU nonsynonymous SNV NM_015364 exon2 c.A166G p.R56G 0.990016 1 0.971545 0.9723 0.9999 0.84 T 0.0 P -0.999 T 0.0 T 0.0 T ID=CM084629;DIS=Decreased endotoxin binding;TAG=FP;PUB=18424732 FP Pathogenic 8_74917228_A->G 8 74917228 74917228 A G snp 525.77 0/1 99 36 18 18 0.5 intronic rs11466001 LY96 AU NM_015364 exon2 c.13443+108A>G 0.220647 0.1935 Uncertain 8_75262798_G->C 8 75262798 75262798 G C snp 5718.77 1/1 99 208 0 208 1.0 exonic rs7828201 GDAP1 AR,AD synonymous SNV NM_018972 exon1 c.G102C p.S34S 0.995607 1 0.9973 1 Uncertain 8_75262841_G->A 8 75262841 75262841 G A snp 4486.77 1/1 99 164 0 164 1.0 intronic rs4321999 GDAP1 AR,AD NM_018972 exon1 c.117+28G>A 0.989018 1 0.992849 0.9953 1 Uncertain 8_75272287_T->C 8 75272287 75272287 T C snp 204.77 0/1 99 18 11 7 0.39 intronic rs3780014 GDAP1 AR,AD NM_001040875 exon3 c.8776-84T>C 0.479233 0.4206 Uncertain 8_75274141_T->G 8 75274141 75274141 T G snp 2514.77 0/1 99 223 109 114 0.51 exonic rs11554166 GDAP1 AR,AD synonymous SNV NM_018972 exon4 c.T507G p.S169S 0.219249 0.3026 0.253729 0.2774 0.3128 Uncertain 8_75275312_C->T 8 75275312 75275312 C T snp 1130.77 1/1 81 43 0 43 1.0 intronic rs4463412 GDAP1 AR,AD NM_001040875 exon5 c.11693+24C>T 0.995607 1 0.9973 1 Uncertain 8_75460784_-->G 8 75460784 75460784 - G indel 344.74 1/1 27 9 0 9 1.0 ncRNA_exonic rs111293293 MIR5681A AU 0.9998 1 0 . Uncertain 8_75460789_-->G 8 75460789 75460789 - G indel 380.74 1/1 30 10 0 10 1.0 ncRNA_exonic rs150990986 MIR5681A AU 1 1 0 . Uncertain 8_75614617_A->G 8 75614617 75614617 A G snp 3677.77 1/1 99 129 0 129 1.0 ncRNA_exonic rs2162147 MIR2052HG AU 0.259385 0.6409 0.2573 0.7045 0 D -0.970 T Uncertain 8_75618117_T->- 8 75618117 75618117 T - indel 556.73 1/1 42 16 0 16 1.0 ncRNA_intronic rs34916429 MIR2052HG AU 0.263778 0.6359 Uncertain 8_75664695_A->- 8 75664695 75664695 A - indel 7345.73 1/1 99 164 0 164 1.0 ncRNA_exonic rs34841297 MIR2052HG AU 0.266374 0.622 0.2678 0.7045 Uncertain 8_76455907_G->A 8 76455907 76455907 G A snp 96.28 1/1 9 4 0 4 1.0 intronic rs74873288 HNF4G AU NM_004133 exon2 c.3818-138G>A 0.0159744 0.0744 Uncertain 8_77690380_C->G 8 77690380 77690380 C G snp 421.77 0/1 99 22 7 15 0.68 intronic rs12679822 ZFHX4 AD NM_024721 exon4 c.74120-63C>G 0.32508 0.3899 Uncertain 8_77690563_T->C 8 77690563 77690563 T C snp 1473.77 0/1 99 127 66 61 0.48 exonic rs16939357 ZFHX4 AD synonymous SNV NM_024721 exon4 c.T3213C p.H1071H 0.334864 0.3929 0.278796 0.2211 0.4141 Uncertain 8_77745635_G->A 8 77745635 77745635 G A snp 1593.77 0/1 99 174 104 70 0.4 exonic rs2733733 ZFHX4 AD synonymous SNV NM_024721 exon5 c.G3387A p.S1129S 0.608027 0.6478 0.556632 0.5391 0.6830 Uncertain 8_77764207_G->A 8 77764207 77764207 G A snp 2937.77 0/1 99 249 136 113 0.45 exonic rs28432935 ZFHX4 AD nonsynonymous SNV NM_024721 exon10 c.G5050A p.A1684T 0.145567 0.3532 0.045578 0.0745 0.3820 0.69 T 0.0 P -0.964 T 0.0 T 0.0 T Pathogenic 8_77879257_T->C 8 77879257 77879257 T C snp 494.77 0/1 99 38 19 19 0.5 upstream rs7000529 MIR3149 AU 0.953075 0.9901 Uncertain 8_77895865_A->G 8 77895865 77895865 A G snp 7225.77 1/1 99 247 1 246 1.0 exonic rs10087163 PEX2 AR nonsynonymous SNV NM_000318 exon4 c.T550C p.C184R 0.996206 1 0.989159 0.9878 1 1 T 0.823 P -0.933 T 0.0 T 0.0 T CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000153682.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 8_77911987_TG->- 8 77911987 77911988 TG - indel 1979.73 0/1 99 117 63 54 0.46 intronic rs137919839 PEX2 AR NM_000318 exon4 c.16729-238_16729-237delTG 0.287141 0.4435 0.3271 0.5155 Uncertain 8_79591017_G->C 8 79591017 79591017 G C snp 108.77 0/1 99 8 4 4 0.5 intronic rs28429528 ZC2HC1A AU NM_016010 exon3 c.12531+103G>C 0.717452 0.8978 Uncertain 8_79598667_TTTA->- 8 79598667 79598670 TTTA - indel 384.73 0/1 99 13 5 8 0.62 intronic rs111461408 ZC2HC1A AU NM_016010 exon4 c.20318-34_20318-31delTTTA 0.000998403 0.001 0.7781 0.9328 Uncertain 8_79601420_T->C 8 79601420 79601420 T C snp 173.77 0/1 99 16 10 6 0.38 intronic rs1872072 ZC2HC1A AU NM_016010 exon5 c.23073-36T>C 0.676318 0.8938 0.631502 0.7316 0.9127 Uncertain 8_79610710_A->G 8 79610710 79610710 A G snp 1356.77 0/1 99 144 82 62 0.43 exonic rs1054283 ZC2HC1A AU synonymous SNV NM_016010 exon7 c.A666G p.L222L 0.717252 0.8978 0.670306 0.7381 0.9144 1.000 P -1.045 T Likely benign 8_79659182_T->A 8 79659182 79659182 T A snp 756.77 0/1 99 67 39 28 0.42 intronic rs16906062 IL7 AU NM_001199888 exon2 c.6370+6865T>A 0.138978 0.2728 Uncertain 8_79717241_C->G 8 79717241 79717241 C G snp 2489.77 0/1 99 234 122 112 0.48 UTR5 rs79520846 IL7 AU 0.00179712 0.0089 Uncertain 8_80523536_A->G 8 80523536 80523536 A G snp 953.77 0/1 99 58 22 36 0.62 intronic rs3829028 STMN2 AU NM_007029 exon1 c.19+87A>G 0.130791 0.2153 0.069645 Uncertain 8_80678062_T->A 8 80678062 80678062 T A snp 540.77 0/1 99 51 27 24 0.47 intronic rs79723049 HEY1 AU NM_001040708 exon1 c.584+56T>A 0.028754 0.0476 Uncertain 8_80678300_-->A 8 80678300 80678300 - A indel 2336.73 1/1 99 70 0 70 1.0 intronic rs11448857 HEY1 AU NM_001282851 exon2 c.1015-137insA 0.452875 0.4683 Uncertain 8_80965039_T->A 8 80965039 80965039 T A snp 1391.77 1/1 99 43 0 43 1.0 intronic rs3824267 TPD52 AU NM_001287143 exon5 c.15166-477T>A 0.749201 0.7698 Uncertain 8_80965070_C->A 8 80965070 80965070 C A snp 394.77 1/1 30 11 0 11 1.0 intronic rs3780010 TPD52 AU NM_001287143 exon5 c.15166-446C>A 0.553914 0.6865 Uncertain 8_80965739_C->T 8 80965739 80965739 C T snp 600.77 1/1 45 16 0 16 1.0 intronic rs2303446 TPD52 AU NM_001287143 exon5 c.15315+74C>T 0.554513 0.6865 Uncertain 8_81032301_A->T 8 81032301 81032301 A T snp 141.03 1/1 12 4 0 4 1.0 intronic rs4740118 TPD52 AU NM_001287143 exon7 c.42716+39235A>T 0.473442 0.7827 Uncertain 8_81083599_AAGCCCGAGTCC->- 8 81083599 81083610 AAGCCCGAGTCC - indel 6119.73 1/1 99 69 0 69 1.0 intronic rs201086010 TPD52 AU NM_005079 exon6 c.133309-60_133309-49delAAGCCCGAGTCC 0.605431 0.6667 0.407400 0.4270 0.6355 Uncertain 8_81399048_GTC->- 8 81399048 81399050 GTC - indel 572.73 0/1 99 19 8 11 0.58 exonic rs144692080 ZBTB10 AU nonframeshift deletion NM_001105539 exon1 c.3_5del p.1_2del 0.0742812 0.2302 0.021755 0.1043 0.2794 Uncertain 8_81411992_T->A 8 81411992 81411992 T A snp 2466.77 0/1 99 214 106 108 0.5 exonic rs770775315 ZBTB10 AU synonymous SNV NM_001105539 exon2 c.T1236A p.A412A 4.142e-05 0.0006 Uncertain 8_81425968_C->T 8 81425968 81425968 C T snp 89.77 0/1 99 12 8 4 0.33 intronic rs201970760 ZBTB10 AU NM_001277145 exon3 c.28126-176C>T 0.077476 0.245 Uncertain 8_81426293_-->A 8 81426293 81426293 - A indel 584.73 0/1 99 36 16 20 0.56 intronic rs147305104 ZBTB10 AU NM_001277145 exon3 c.28225+50insA 0.419529 0.2778 0.392519 0.2778 0.2492 Uncertain 8_81888847_C->T 8 81888847 81888847 C T snp 950.77 0/1 99 75 36 39 0.52 exonic rs193072874 PAG1 AU nonsynonymous SNV NM_018440 exon9 c.G1231A p.V411I 0.000998403 0.001 0.000154 0.0005 0.0018 0.42 T 1 N -1.033 T 0.103 T 0.016 T Pathogenic 8_81892766_G->A 8 81892766 81892766 G A snp 2382.77 0/1 99 204 106 98 0.48 intronic rs2241972 PAG1 AU NM_018440 exon2 c.3951+37G>A 0.501797 0.5317 0.438490 0.3915 0.5143 Uncertain 8_81905294_G->A 8 81905294 81905294 G A snp 1341.77 0/1 99 144 78 66 0.46 intronic rs895270 PAG1 AU NM_018440 exon6 c.16559-43G>A 0.264976 0.495 0.202061 0.2351 0.4897 Uncertain 8_81905314_A->C 8 81905314 81905314 A C snp 1591.77 0/1 99 167 90 77 0.46 intronic rs2016459 PAG1 AU NM_018440 exon6 c.16559-23A>C 0.521565 0.499 0.465016 0.3905 0.4963 Uncertain 8_81905397_A->G 8 81905397 81905397 A G snp 3822.77 1/1 99 138 1 137 0.99 exonic rs2016465 PAG1 AU synonymous SNV NM_018440 exon4 c.T66C p.A22A 0.523962 0.5268 0.463478 0.3920 0.5295 Uncertain 8_81905533_G->A 8 81905533 81905533 G A snp 255.77 0/1 99 20 10 10 0.5 UTR5 rs895267 PAG1 AU 0.482628 0.4792 Uncertain 8_82355518_A->G 8 82355518 82355518 A G snp 501.77 1/1 39 16 0 16 1.0 UTR3 rs6990882 PMP2 AU 0.351438 0.747 Uncertain 8_82355621_A->G 8 82355621 82355621 A G snp 1438.77 1/1 99 56 0 56 1.0 UTR3 rs6473276 PMP2 AU 0.53734 0.748 0.456987 0.3987 0.7412 Uncertain 8_82357112_T->C 8 82357112 82357112 T C snp 4769.77 1/1 99 170 0 170 1.0 exonic rs2229015 PMP2 AU synonymous SNV NM_002677 exon2 c.A186G p.E62E 0.351438 0.748 0.224358 0.2380 0.7409 Uncertain 8_82370696_C->T 8 82370696 82370696 C T snp 4316.77 1/1 99 149 0 149 1.0 intronic rs28485205 FABP9 AU NM_001080526 exon1 c.51+28C>T 0.300519 0.6716 0.181070 0.1768 0.6684 Uncertain 8_82373720_G->A 8 82373720 82373720 G A snp 2144.77 0/1 99 195 99 96 0.49 exonic FABP9 AU synonymous SNV NM_001080526 exon1 c.C39T p.S13S Uncertain 8_82437183_G->A 8 82437183 82437183 G A snp 532.77 0/1 99 34 13 21 0.62 downstream rs79980350 FABP12 AU 0.000798722 0.004 Uncertain 8_82571434_C->A 8 82571434 82571434 C A snp 37.77 0/1 66 4 2 2 0.5 UTR3 rs2955014 IMPA1 AU 0.191294 0.5933 Uncertain 8_82590861_G->A 8 82590861 82590861 G A snp 34.77 0/1 33 4 2 2 0.5 intronic rs2991004 IMPA1 AU NM_005536 exon6 c.19775-499G>A 0.568091 0.871 0.5375 0.8902 Uncertain 8_82606782_A->G 8 82606782 82606782 A G snp 930.77 0/1 99 71 34 37 0.52 exonic rs2955006 SLC10A5 AU synonymous SNV NM_001010893 exon1 c.T426C p.N142N 0.441294 0.129 0.528141 0.5452 0.1289 Uncertain 8_82627395_A->C 8 82627395 82627395 A C snp 1856.77 0/1 99 141 68 73 0.52 intronic rs58900840 ZFAND1 AU NM_001170797 exon4 c.12194+46A>C 0.415935 0.8065 0.286527 0.3299 0.8160 Uncertain 8_82629447_G->A 8 82629447 82629447 G A snp 676.77 0/1 99 92 59 33 0.36 intronic rs62512330 ZFAND1 AU NM_001170797 exon5 c.14328-36G>A 0.329473 0.7222 0.234827 0.2805 0.7205 Uncertain 8_82633452_C->G 8 82633452 82633452 C G snp 309.77 0/1 99 39 26 13 0.33 intronic rs2130263 ZFAND1 AU NM_001170797 exon7 c.18306-9C>G 0.191294 0.5933 0.076649 0.1303 0.6009 Uncertain 8_82741576_-->A 8 82741576 82741576 - A indel 556.73 1/1 42 14 0 14 1.0 intronic rs34550849 SNX16 AU NM_152836 exon6 c.27933-88insA 0.678315 0.9742 Uncertain 8_85097500_G->A 8 85097500 85097500 G A snp 40.77 0/1 69 5 3 2 0.4 intronic rs1898464 RALYL AU NM_001100391 exon1 c.16+251G>A 0.257987 0.256 Uncertain 8_85441856_T->A 8 85441856 85441856 T A snp 585.77 1/1 45 17 0 17 1.0 intronic rs13248532 RALYL AU NM_001100391 exon2 c.344579+44T>A 0.370807 0.3175 0.358137 0.3882 0.3577 Uncertain 8_85785413_A->G 8 85785413 85785413 A G snp 394.77 0/1 99 53 32 21 0.4 intronic rs3780004 RALYL AU NM_001287244 exon6 c.167260-105A>G 0.543131 0.7034 Uncertain 8_85799828_C->- 8 85799828 85799828 C - indel 329.73 0/1 99 28 14 14 0.5 intronic rs10712255 RALYL AU NM_001287244 exon7 c.181580-10delC 0.53115 0.7183 0.3969 0.7344 Uncertain 8_85833168_A->G 8 85833168 85833168 A G snp 413.77 0/1 99 40 24 16 0.4 UTR3 rs13267859 RALYL AU 0.383586 0.6052 0.253106 0.3407 0.6185 Uncertain 8_86048001_T->- 8 86048001 86048001 T - indel 156.73 0/1 99 18 9 9 0.5 intronic rs36102162 LRRCC1 AU NM_033402 exon14 c.28493-22delT 0.6774 0.5528 Uncertain 8_86089787_C->G 8 86089787 86089787 C G snp 207.77 0/1 99 31 20 11 0.35 exonic rs12926 E2F5 AU synonymous SNV NM_001083588 exon1 c.C132G p.A44A 0.562101 0.4157 0.669102 0.7400 0.5503 Uncertain 8_86114364_G->A 8 86114364 86114364 G A snp 1038.77 0/1 99 99 53 46 0.46 intronic rs140476393 E2F5 AU NM_001951 exon2 c.24726-17G>A 0.00419329 0.0188 0.000168 0.0022 0.0254 Uncertain 8_86121311_G->T 8 86121311 86121311 G T snp 419.77 1/1 33 12 0 12 1.0 intronic rs3808538 E2F5 AU NM_001083589 exon6 c.5909-65G>T 0.689497 0.4891 Uncertain 8_86126827_-->AACATT 8 86126827 86126827 - AACATT indel 5100.73 1/1 99 59 0 59 1.0 exonic rs112611553 C8orf59 AU nonframeshift insertion NM_001293320 exon3 c.147_148insAATGTT p.D50delinsNVD 0.997204 1 0.996366 0.9970 0.9966 ID=COSM1458434;OCCURENCE=4(large_intestine) Uncertain 8_86134784_C->A 8 86134784 86134784 C A snp 889.77 1/1 66 27 1 26 0.96 intergenic rs12550160 C8orf59 AU 0.564497 0.4196 Uncertain 8_86135096_A->G 8 86135096 86135096 A G snp 1216.77 1/1 90 38 0 38 1.0 intergenic rs2132589 C8orf59 AU 0.563898 0.4196 0.6163 0.4 Uncertain 8_86135132_A->G 8 86135132 86135132 A G snp 586.77 1/1 45 16 0 16 1.0 intergenic rs1021583 C8orf59 AU 0.564497 0.4196 0.59 0.4091 Uncertain 8_86158218_TAAAC->- 8 86158218 86158222 TAAAC - indel 4182.73 1/1 99 71 0 71 1.0 intronic rs33949682 CA13 AU NM_198584 exon1 c.37+124_37+128delTAAAC 0.548922 0.4206 Uncertain 8_86158249_C->T 8 86158249 86158249 C T snp 905.77 1/1 66 31 0 31 1.0 intronic rs17740658 CA13 AU NM_198584 exon1 c.37+155C>T 0.560104 0.4196 Uncertain 8_86163293_C->T 8 86163293 86163293 C T snp 119.8 0/1 21 10 4 6 0.6 intronic rs192392136 CA13 AU NM_198584 exon2 c.5109+127C>T 0.00119808 0.006 Uncertain 8_86171786_T->C 8 86171786 86171786 T C snp 2046.77 1/1 99 81 0 81 1.0 intronic rs4739698 CA13 AU NM_198584 exon3 c.13711+18T>C 0.549121 0.4187 0.624789 0.6119 0.4044 Uncertain 8_86171816_A->G 8 86171816 86171816 A G snp 1696.77 1/1 99 59 0 59 1.0 intronic rs4739699 CA13 AU NM_198584 exon3 c.13711+48A>G 0.998003 1 0.998462 0.9983 0.9999 Uncertain 8_86244914_G->A 8 86244914 86244914 G A snp 59.74 1/1 6 3 0 3 1.0 intronic rs1995058 CA1 AU NM_001164830 exon3 c.3993+133G>A 0.599241 0.494 Uncertain 8_86250709_T->C 8 86250709 86250709 T C snp 3784.77 1/1 99 132 0 132 1.0 intronic rs4740049 CA1 AU NM_001164830 exon6 c.9890+31T>C 0.70647 0.502 0.785484 0.7002 0.4698 Uncertain 8_86253982_C->T 8 86253982 86253982 C T snp 1930.77 1/1 99 66 0 66 1.0 intronic rs1496532 CA1 AU NM_001164830 exon7 c.13155+39C>T 0.520966 0.4276 Uncertain 8_86254062_T->A 8 86254062 86254062 T A snp 338.78 1/1 27 9 0 9 1.0 intronic rs1496531 CA1 AU NM_001164830 exon7 c.13155+119T>A 0.448682 0.4276 Uncertain 8_86351997_G->A 8 86351997 86351997 G A snp 1958.77 1/1 99 68 0 68 1.0 exonic rs20571 CA3 AU nonsynonymous SNV NM_005181 exon2 c.G91A p.V31I 0.439497 0.4474 0.514224 0.5481 0.4280 1 T 0.019 P -0.941 T 0.0 T 0.0 T Pathogenic 8_86360459_C->- 8 86360459 86360459 C - indel 2127.73 1/1 99 53 0 53 1.0 ncRNA_intronic rs11340759 LOC100996348 AU 0.611821 0.5228 Uncertain 8_86376130_A->T 8 86376130 86376130 A T snp 222.84 1/1 18 6 0 6 1.0 ncRNA_intronic rs11261477 LOC100996348 AU 0.998802 1 Uncertain 8_86388228_A->C 8 86388228 86388228 A C snp 901.77 1/1 66 25 0 25 1.0 intronic rs2307075 CA2 AR NM_000067 exon5 c.11779+139A>C 0.558107 0.4454 Uncertain 8_86389195_C->T 8 86389195 86389195 C T snp 381.77 1/1 30 10 0 10 1.0 intronic rs11780942 CA2 AR NM_000067 exon6 c.13038-153C>T 0.882388 0.9921 Uncertain 8_86389403_T->C 8 86389403 86389403 T C snp 4286.77 1/1 99 158 0 158 1.0 exonic rs703 CA2 AR synonymous SNV NM_000067 exon6 c.T562C p.L188L 0.577676 0.498 0.643088 0.5893 0.4722 Uncertain 8_86389586_A->C 8 86389586 86389586 A C snp 172.9 1/1 15 5 0 5 1.0 intronic rs6605618 CA2 AR NM_000067 exon6 c.13194+82A>C 0.914537 0.9921 Uncertain 8_87076150_C->G 8 87076150 87076150 C G snp 420.77 0/1 99 32 17 15 0.47 intronic rs981711 PSKH2 AU NM_033126 exon2 c.15503-43C>G 0.71885 0.8343 0.777590 0.7958 0.8471 Uncertain 8_87151606_G->C 8 87151606 87151606 G C snp 136.77 0/1 99 16 10 6 0.38 intronic rs2466326 ATP6V0D2 AU NM_152565 exon3 c.40478-79G>C 0.840655 0.8571 Uncertain 8_87155094_T->C 8 87155094 87155094 T C snp 518.77 0/1 99 41 20 21 0.51 intronic rs1483779 ATP6V0D2 AU NM_152565 exon5 c.43898-11T>C 0.851438 0.8571 0.876270 0.8416 0.8643 Uncertain 8_87155275_T->- 8 87155275 87155275 T - indel 81.73 0/1 99 17 9 8 0.47 intronic rs11317974 ATP6V0D2 AU NM_152565 exon5 c.43976+92delT 0.253395 0.3313 Uncertain 8_87165011_T->C 8 87165011 87165011 T C snp 1223.77 0/1 99 104 54 50 0.48 intronic rs10504820 ATP6V0D2 AU NM_152565 exon8 c.53837-33T>C 0.146565 0.1429 0.120329 0.1618 0.1367 Uncertain 8_87226635_CCGACATC->- 8 87226635 87226642 CCGACATC - indel 2759.73 0/1 99 69 42 27 0.39 exonic rs56993779 SLC7A13 AU frameshift deletion NM_138817 exon4 c.1413_1511del p.*471fs 0.193291 0.3323 0.097793 0.1957 0.3375 Pathogenic 8_87226700_A->G 8 87226700 87226700 A G snp 1613.77 0/1 99 114 47 67 0.59 exonic rs9656982 SLC7A13 AU nonsynonymous SNV NM_138817 exon4 c.T1355C p.M452T 0.169329 0.1419 0.118945 0.1370 0.1362 0.31 T 1.0 P -1.074 T 0.039 T 0.021 T Pathogenic 8_87227015_G->T 8 87227015 87227015 G T snp 222.84 1/1 18 6 0 6 1.0 intronic rs12542402 SLC7A13 AU NM_138817 exon1 c.234+140G>T 0.376198 0.4802 Uncertain 8_87229702_A->G 8 87229702 87229702 A G snp 316.77 0/1 91 15 4 11 0.73 exonic rs4546639 SLC7A13 AU synonymous SNV NM_138817 exon3 c.T1176C p.Y392Y 0.202476 0.3383 0.115641 0.1976 0.3403 Uncertain 8_87229739_C->T 8 87229739 87229739 C T snp 487.77 0/1 99 28 8 20 0.71 exonic rs4419794 SLC7A13 AU nonsynonymous SNV NM_138817 exon3 c.G1139A p.R380K 0.194289 0.3383 0.102991 0.1876 0.3330 0.32 T 0.0 P -0.966 T 0.003 T 0.0 T Pathogenic 8_87229948_T->A 8 87229948 87229948 T A snp 777.77 0/1 99 73 38 35 0.48 exonic rs4621787 SLC7A13 AU synonymous SNV NM_138817 exon3 c.A930T p.S310S 0.168331 0.1419 0.120865 0.1366 0.1340 Uncertain 8_87235150_C->T 8 87235150 87235150 C T snp 5214.77 1/1 99 195 0 195 1.0 intronic rs2976190 SLC7A13 AU NM_138817 exon3 c.8559-50C>T 0.52516 0.498 0.436491 0.4476 0.4795 Uncertain 8_87241797_-->T 8 87241797 87241797 - T indel 3838.73 1/1 99 121 0 121 1.0 intronic rs11413051 SLC7A13 AU NM_138817 exon4 c.15180-24insT 0.401957 0.4802 0.263978 0.3274 0.4706 Uncertain 8_87241847_G->A 8 87241847 87241847 G A snp 5730.77 1/1 99 211 0 211 1.0 exonic rs7814198 SLC7A13 AU synonymous SNV NM_138817 exon1 c.C660T p.G220G 0.445687 0.502 0.304398 0.3490 0.4878 0.061 P Uncertain 8_87452766_A->G 8 87452766 87452766 A G snp 608.77 1/1 45 21 0 21 1.0 intronic rs4961191 WWP1 AU NM_007013 exon17 c.64623+1864A>G 0.997204 0.9861 Uncertain 8_87453030_A->G 8 87453030 87453030 A G snp 344.77 0/1 99 23 9 14 0.61 intronic rs10092164 WWP1 AU NM_007013 exon18 c.68568-1817A>G 0.651158 0.5833 Uncertain 8_87474085_A->G 8 87474085 87474085 A G snp 684.77 0/1 99 46 19 27 0.59 intronic rs7460650 WWP1 AU NM_007013 exon24 c.87796+10A>G 0.351637 0.5317 0.223974 0.3306 0.5417 Uncertain 8_87480890_C->T 8 87480890 87480890 C T snp 1317.77 0/1 99 175 110 65 0.37 downstream rs7017706 WWP1 AU 0.351837 0.5327 0.3439 0.4924 Uncertain 8_87482324_C->T 8 87482324 87482324 C T snp 403.77 0/1 99 19 6 13 0.68 intergenic rs6471352 WWP1 AU 0.657149 0.5833 Uncertain 8_87484669_C->T 8 87484669 87484669 C T snp 1359.77 0/1 99 137 77 60 0.44 UTR3 rs13282351 RMDN1 AU 0.353435 0.5327 0.3442 0.4924 Uncertain 8_87489563_AC->- 8 87489563 87489564 AC - indel 1234.73 1/1 78 28 0 28 1.0 intronic rs34697397 RMDN1 AU NM_016033 exon3 c.3017+10_3017+11delAC 0.363019 0.5685 0.223697 0.3489 0.5803 Uncertain 8_87497176_G->A 8 87497176 87497176 G A snp 1036.77 0/1 99 71 26 45 0.63 exonic rs11539113 RMDN1 AU synonymous SNV NM_016033 exon5 c.C510T p.C170C 0.355831 0.5327 0.220111 0.3365 0.5425 1.0 P -0.893 T Likely benign 8_87507366_C->T 8 87507366 87507366 C T snp 85.77 0/1 69 6 2 4 0.67 intronic rs7837569 RMDN1 AU NM_016033 exon8 c.14332+6498C>T 0.351637 0.5327 Uncertain 8_87517679_C->T 8 87517679 87517679 C T snp 680.77 0/1 99 56 28 28 0.5 intronic rs34596274 RMDN1 AU NM_016033 exon9 c.32687-1544C>T 0.349241 0.5218 Uncertain 8_87517700_C->G 8 87517700 87517700 C G snp 533.77 0/1 99 45 23 22 0.49 intronic rs35592191 RMDN1 AU NM_016033 exon9 c.32687-1523C>G 0.351637 0.5327 Uncertain 8_87520894_C->A 8 87520894 87520894 C A snp 675.77 0/1 99 48 16 32 0.67 UTR5 rs68008113 RMDN1 AU 0.351837 0.5327 0.203260 0.3370 0.5401 Uncertain 8_87520948_-->CCGCCTCCTGCACAGCACCTCTT 8 87520948 87520948 - CCGCCTCCTGCACAGCACCTCTT indel 181.87 1/1 15 18 0 18 1.0 UTR5 rs375655029 RMDN1 AU Uncertain 8_87567031_G->A 8 87567031 87567031 G A snp 1086.77 0/1 99 95 52 43 0.45 intronic rs2304790 CPNE3 AU NM_003909 exon15 c.26305-47G>A 0.530551 0.3016 0.700446 0.6298 0.2822 Uncertain 8_87567305_A->C 8 87567305 87567305 A C snp 630.77 0/1 99 41 21 20 0.49 intronic rs3816240 CPNE3 AU NM_003909 exon15 c.26439+93A>C 0.530551 0.3016 Uncertain 8_87568644_T->G 8 87568644 87568644 T G snp 1549.77 0/1 99 124 60 64 0.52 intronic rs2304787 CPNE3 AU NM_003909 exon16 c.27793+78T>G 0.53155 0.3046 Uncertain 8_87570665_A->C 8 87570665 87570665 A C snp 2426.77 0/1 99 194 91 103 0.53 UTR3 rs1062850 CPNE3 AU 0.404353 0.2738 0.541596 0.5234 0.2511 Uncertain 8_87570728_C->T 8 87570728 87570728 C T snp 1286.77 0/1 99 95 46 49 0.52 UTR3 rs1062851 CPNE3 AU 0.403155 0.2708 Uncertain 8_87581682_-->CA 8 87581682 87581682 - CA indel 907.73 0/1 99 67 21 46 0.69 intergenic rs10660354 CPNE3 AU Uncertain 8_87588519_T->C 8 87588519 87588519 T C snp 195.77 0/1 99 14 7 7 0.5 intronic rs974279 CNGB3 AR NM_019098 exon1 c.327+161T>C 0.854633 0.6667 Uncertain 8_87590846_G->A 8 87590846 87590846 G A snp 189.77 0/1 94 9 3 6 0.67 intronic rs76859357 CNGB3 AR NM_019098 exon2 c.2885-70G>A 0.01877 0.0893 Uncertain 8_87666251_T->G 8 87666251 87666251 T G snp 958.77 0/1 99 97 54 43 0.44 exonic rs4961206 CNGB3 AR nonsynonymous SNV NM_019098 exon7 c.A892C p.T298P 0.679712 0.7827 0.640594 0.6657 0.8003 0.36 T 0.042 P -0.970 T 0.005 T 0.012 T CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000081979.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 8_87679303_A->C 8 87679303 87679303 A C snp 1924.77 1/1 99 71 0 71 1.0 exonic rs6471482 CNGB3 AR nonsynonymous SNV NM_019098 exon6 c.T702G p.C234W 0.957468 0.999 0.878594 0.8946 0.9999 1 T 0.998 P -0.938 T 0.0 T 0.0 T ID=CM157070;DIS=Decreased ligand sensitivity;TAG=FP;PUB=26106334 FP Pathogenic 8_87680112_T->A 8 87680112 87680112 T A snp 2396.77 1/1 99 69 0 69 1.0 intronic rs7815125 CNGB3 AR NM_019098 exon14 c.92215-134T>A 0.942093 0.999 Uncertain 8_87680406_-->A 8 87680406 87680406 - A indel 713.73 0/1 99 109 52 57 0.52 intronic rs36008065 CNGB3 AR NM_019098 exon14 c.92365+10insA 0.258187 0.3512 0.3027 0.3925 Uncertain 8_87683465_C->T 8 87683465 87683465 C T snp 56.74 1/1 6 2 0 2 1.0 intronic rs1441242 CNGB3 AR NM_019098 exon15 c.95295+139C>T 0.814696 0.999 Uncertain 8_87751849_TT->- 8 87751849 87751850 TT - indel 179.73 0/1 99 29 18 11 0.38 intronic rs760542638 CNGB3 AR NM_019098 exon17 c.163851-33_163851-32delTT 0.151158 0.1677 0.1230 0.1941 Uncertain 8_87755891_A->C 8 87755891 87755891 A C snp 627.77 0/1 99 33 15 18 0.55 UTR5 rs7812496 CNGB3 AR 0.0902556 0.1161 0.061895 0.0575 0.1346 Uncertain 8_87899871_T->G 8 87899871 87899871 T G snp 2283.77 1/1 99 88 0 88 1.0 intronic rs66493340 CNBD1 AU NM_173538 exon2 c.21116+32T>G 0.515575 0.5506 0.455381 0.5346 0.6136 Uncertain 8_87899960_A->G 8 87899960 87899960 A G snp 1167.77 1/1 84 38 0 38 1.0 intronic rs67958512 CNBD1 AU NM_173538 exon2 c.21116+121A>G 0.515775 0.5506 Uncertain 8_87917236_T->G 8 87917236 87917236 T G snp 554.77 1/1 42 15 0 15 1.0 intronic rs10504828 CNBD1 AU NM_173538 exon3 c.38585-72T>G 0.49381 0.5526 Uncertain 8_87951714_A->C 8 87951714 87951714 A C snp 181.9 1/1 15 7 0 7 1.0 intronic rs4644279 CNBD1 AU NM_173538 exon4 c.73100-109A>C 0.939297 1 Uncertain 8_88364148_G->T 8 88364148 88364148 G T snp 222.84 1/1 18 6 0 6 1.0 intronic rs28629293 CNBD1 AU NM_173538 exon9 c.485299+126G>T 0.20627 0.1845 Uncertain 8_88440715_-->TATCTTTT 8 88440715 88440715 - TATCTTTT indel 1602.73 1/1 54 18 0 18 1.0 intergenic rs138616932 CNBD1 AU Uncertain 8_88440717_T->A 8 88440717 88440717 T A snp 564.77 1/1 42 19 1 18 0.95 intergenic rs77145404 CNBD1 AU Uncertain 8_88621815_G->A 8 88621815 88621815 G A snp 158.9 1/1 15 6 0 6 1.0 intergenic rs72670871 CNBD1 AU 0.264976 0.4167 Uncertain 8_88622001_C->T 8 88622001 88622001 C T snp 2069.77 1/1 99 82 0 82 1.0 intergenic rs9692781 CNBD1 AU 0.480032 0.5853 0.5009 0.5625 Uncertain 8_88622043_T->G 8 88622043 88622043 T G snp 1862.77 1/1 99 69 0 69 1.0 intergenic rs9694259 CNBD1 AU 0.797125 0.9385 0.8104 0.9262 0.0 P -1.041 T Uncertain 8_88622592_A->G 8 88622592 88622592 A G snp 658.77 1/1 51 19 0 19 1.0 intergenic rs72670872 CNBD1 AU 0.438498 0.5833 Uncertain 8_88886001_A->G 8 88886001 88886001 A G snp 3204.83 0/1 99 250 128 122 0.49 exonic rs146243553 DCAF4L2 AU nonsynonymous SNV NM_152418 exon1 c.T199C p.S67P 0.000199681 0.001 0.000461 0.0008 0.0036 0.02 T 1 N -0.681 T 0.986 D 0.871 D Pathogenic 8_89081541_A->T 8 89081541 89081541 A T snp 415.77 0/1 99 20 5 15 0.75 intronic rs2664347 MMP16 AU NM_005941 exon4 c.33144-5291A>T 0.761382 0.7063 Uncertain 8_89081730_T->C 8 89081730 89081730 T C snp 2441.77 0/1 99 218 108 110 0.5 intronic rs2616490 MMP16 AU NM_005941 exon4 c.33144-5102T>C 0.5625 0.6905 0.5745 0.7041 Uncertain 8_89198575_A->G 8 89198575 89198575 A G snp 1266.77 1/1 93 33 0 33 1.0 intronic rs1915012 MMP16 AU NM_005941 exon8 c.145016-129A>G 0.92472 1 Uncertain 8_89339994_CACA->- 8 89339994 89339997 CACA - indel 573.73 1/1 36 12 0 12 1.0 upstream rs59013136 MMP16 AU Uncertain 8_90770609_A->G 8 90770609 90770609 A G snp 199.77 0/1 99 17 7 10 0.59 intronic rs39499 RIPK2 AU NM_003821 exon1 c.173+148A>G 0.555312 0.4901 Uncertain 8_90777510_G->A 8 90777510 90777510 G A snp 501.77 0/1 99 62 43 19 0.31 intronic rs431264 RIPK2 AU NM_003821 exon3 c.7280-58G>A 0.560304 0.4901 Uncertain 8_90781953_C->T 8 90781953 90781953 C T snp 505.77 0/1 99 49 25 24 0.49 intronic rs40377 RIPK2 AU NM_003821 exon4 c.11711-46C>T 0.559704 0.4901 0.611128 0.5534 0.4590 Uncertain 8_90782226_G->A 8 90782226 90782226 G A snp 259.77 0/1 99 24 13 11 0.46 intronic rs28565967 RIPK2 AU NM_003821 exon4 c.11869+69G>A 0.187899 0.1597 Uncertain 8_90792127_A->C 8 90792127 90792127 A C snp 326.77 0/1 99 25 12 13 0.52 intronic rs39506 RIPK2 AU NM_003821 exon7 c.22014-175A>C 0.642971 0.5665 Uncertain 8_90914865_A->C 8 90914865 90914865 A C snp 90.28 1/1 9 3 0 3 1.0 UTR5 rs2697670 OSGIN2 AU 0.228035 0.25 Uncertain 8_90933554_A->G 8 90933554 90933554 A G snp 90.28 1/1 9 3 0 3 1.0 intronic rs2697676 OSGIN2 AU NM_001126111 exon5 c.18378+155A>G 0.267772 0.4236 Uncertain 8_90948273_C->T 8 90948273 90948273 C T snp 1425.77 1/1 99 49 0 49 1.0 intronic rs2735384 NBN AU,AR NM_002485 exon1 c.31+433C>T 0.324481 0.4206 0.3322 0.4674 Uncertain 8_90955358_C->T 8 90955358 90955358 C T snp 1192.77 1/1 90 34 0 34 1.0 intronic rs7840099 NBN AU,AR NM_002485 exon3 c.7671-122C>T 0.375998 0.4673 Uncertain 8_90955624_T->A 8 90955624 90955624 T A snp 1555.77 1/1 99 46 0 46 1.0 intronic rs3736639 NBN AU,AR NM_002485 exon3 c.7785+30T>A 0.379193 0.4663 0.313932 0.3535 0.4457 Uncertain 8_90958422_T->C 8 90958422 90958422 T C snp 725.77 1/1 54 27 0 27 1.0 exonic rs1061302 NBN AU,AR synonymous SNV NM_002485 exon13 c.A2016G p.P672P 0.352835 0.4673 0.284187 0.3451 0.4444 CLINSIG=non-pathogenic;CLNDBN=Hereditary_cancer-predisposing_syndrome;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000162357.1;CLNDSDB=MedGen:SNOMED_CT;CLNDSDBID=C0027672:699346009 Uncertain 8_90958530_T->C 8 90958530 90958530 T C snp 1147.77 1/1 84 45 0 45 1.0 intronic rs2308962 NBN AU,AR NM_002485 exon4 c.10714+7T>C 0.378994 0.4673 0.313134 0.3529 0.4442 Uncertain 8_90967711_A->G 8 90967711 90967711 A G snp 2160.77 1/1 99 80 0 80 1.0 exonic rs709816 NBN AU,AR synonymous SNV NM_002485 exon10 c.T1197C p.D399D 0.608626 0.6647 0.490311 0.4676 0.6466 CLINSIG=non-pathogenic;CLNDBN=Hereditary_cancer-predisposing_syndrome;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000162376.1;CLNDSDB=MedGen:SNOMED_CT;CLNDSDBID=C0027672:699346009 Uncertain 8_90967862_G->T 8 90967862 90967862 G T snp 224.84 1/1 18 6 0 6 1.0 intronic rs1805786 NBN AU,AR NM_002485 exon7 c.19974+79G>T 0.3752 0.4673 Uncertain 8_90970862_G->T 8 90970862 90970862 G T snp 245.8 1/1 21 8 0 8 1.0 intronic rs1805818 NBN AU,AR NM_002485 exon8 c.23143-90G>T 0.375 0.4663 Uncertain 8_90970935_G->A 8 90970935 90970935 G A snp 1592.77 1/1 99 56 0 56 1.0 intronic rs2234744 NBN AU,AR NM_002485 exon8 c.23143-17G>A 0.353035 0.4663 0.284484 0.3446 0.4439 Uncertain 8_90990479_C->G 8 90990479 90990479 C G snp 1563.77 1/1 99 64 0 64 1.0 exonic rs1805794 NBN AU,AR nonsynonymous SNV NM_002485 exon5 c.G553C p.E185Q 0.357029 0.4673 0.286560 0.3453 0.4438 1 T 0.000 P -0.961 T 0.0 T 0.001 T CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|Hereditary_cancer-predisposing_syndrome;CLNREVSTAT=criteria_provided\x2c_single_submitter|criteria_provided\x2c_single_submitter;CLNACC=RCV000121620.1|RCV000162358.1;CLNDSDB=MedGen|MedGen:SNOMED_CT;CLNDSDBID=CN169374|C0027672:699346009 ID=CM034886;DIS=Lung cancer, association with;TAG=DP;PUB=12917199 DP Pathogenic 8_90993883_C->T 8 90993883 90993883 C T snp 93.28 1/1 9 3 0 3 1.0 intronic rs1805797 NBN AU,AR NM_002485 exon14 c.45942+132C>T 0.379393 0.4673 Uncertain 8_90995019_C->T 8 90995019 90995019 C T snp 4992.77 1/1 99 190 0 190 1.0 exonic rs1063045 NBN AU,AR synonymous SNV NM_002485 exon2 c.G102A p.L34L 0.379193 0.4673 0.313163 0.3527 0.4446 CLINSIG=non-pathogenic;CLNDBN=Hereditary_cancer-predisposing_syndrome;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000162359.1;CLNDSDB=MedGen:SNOMED_CT;CLNDSDBID=C0027672:699346009 Uncertain 8_91017745_T->C 8 91017745 91017745 T C snp 951.77 1/1 72 28 0 28 1.0 intronic rs1805806 DECR1 AU NM_001359 exon1 c.69+3956T>C 0.608427 0.6637 Uncertain 8_91029480_G->A 8 91029480 91029480 G A snp 1424.77 0/1 99 142 74 68 0.48 exonic DECR1 AU synonymous SNV NM_001359 exon2 c.G198A p.G66G Uncertain 8_91031074_G->A 8 91031074 91031074 G A snp 615.77 1/1 45 20 0 20 1.0 intronic rs1805867 DECR1 AU NM_001359 exon3 c.17416-62G>A 0.189497 0.2381 0.141314 0.2227 0.2570 Uncertain 8_91064036_G->C 8 91064036 91064036 G C snp 2642.77 1/1 99 99 0 99 1.0 intronic rs1476590 DECR1 AU NM_001359 exon10 c.50345-29G>C 0.613219 0.6677 0.487160 0.4665 0.6467 Uncertain 8_91884265_C->A 8 91884265 91884265 C A snp 96.28 1/1 9 3 0 3 1.0 intronic rs7830264 NECAB1 AU NM_022351 exon4 c.80241-90C>A 0.607029 0.7669 Uncertain 8_91884409_C->T 8 91884409 91884409 C T snp 447.77 0/1 99 44 21 23 0.52 intronic rs147148816 NECAB1 AU NM_022351 exon4 c.80267+28C>T 0.0061901 0.0079 0.013092 0.0150 0.0150 Uncertain 8_91884534_G->A 8 91884534 91884534 G A snp 957.77 1/1 69 34 0 34 1.0 intronic rs7829663 NECAB1 AU NM_022351 exon4 c.80267+153G>A 0.607029 0.7669 Uncertain 8_91929653_A->- 8 91929653 91929653 A - indel 625.73 1/1 74 25 0 25 1.0 intronic rs34544744 NECAB1 AU NM_022351 exon6 c.125605-66delA 0.635583 0.7847 Uncertain 8_91940285_T->C 8 91940285 91940285 T C snp 424.77 1/1 33 12 0 12 1.0 intronic rs2019889 NECAB1 AU NM_022351 exon8 c.136336-165T>C 0.614816 0.7847 Uncertain 8_91940311_C->T 8 91940311 91940311 C T snp 369.77 0/1 99 21 6 15 0.71 intronic rs7006863 NECAB1 AU NM_022351 exon8 c.136336-139C>T 0.0986422 0.0526 Uncertain 8_91940446_C->T 8 91940446 91940446 C T snp 3000.77 1/1 99 115 0 115 1.0 splicing rs1002583 NECAB1 AU NM_022351 exon8 c.136336-4C>T 0.4375 0.6062 0.358734 0.4059 0.6383 Pathogenic 8_91953138_G->A 8 91953138 91953138 G A snp 1259.77 0/1 99 91 32 59 0.65 intronic rs7018395 NECAB1 AU NM_022351 exon10 c.149012+12G>A 0.323482 0.5526 0.213379 0.2991 0.6193 Uncertain 8_91967658_T->C 8 91967658 91967658 T C snp 858.77 1/1 63 29 0 29 1.0 intronic rs2677572 NECAB1 AU NM_022351 exon13 c.163600-56T>C 0.626398 0.7837 0.523674 Uncertain 8_91971072_-->TTCT 8 91971072 91971072 - TTCT indel 368.73 0/1 99 21 14 7 0.33 UTR3 rs144293062 C8orf88 AU 0.28115 0.2321 Uncertain 8_91973099_A->G 8 91973099 91973099 A G snp 1155.77 1/1 84 48 0 48 1.0 intronic rs2740780 C8orf88 AU NM_001190972 exon2 c.1842+23A>G 0.63738 0.7837 0.4148 0.7842 Uncertain 8_92021036_C->T 8 92021036 92021036 C T snp 562.77 0/1 99 51 27 24 0.47 intronic rs2054805 TMEM55A AU NM_018710 exon3 c.13119+13C>T 0.526558 0.2708 0.653775 0.6279 0.2537 Uncertain 8_92030761_AC->- 8 92030761 92030762 AC - indel 1682.73 0/1 99 111 69 42 0.38 intronic rs111971792 TMEM55A AU NM_018710 exon4 c.22837+20_22837+21delAC 0.0936502 0.0516 0.115016 0.0794 0.0378 Uncertain 8_92033502_T->C 8 92033502 92033502 T C snp 1421.77 0/1 99 119 60 59 0.5 exonic rs34503257 TMEM55A AU synonymous SNV NM_018710 exon2 c.A237G p.T79T 0.0930511 0.0516 0.114639 0.0794 0.0379 Uncertain 8_92082753_C->T 8 92082753 92082753 C T snp 164.77 0/1 99 24 17 7 0.29 intronic rs3808378 OTUD6B AU NM_016023 exon1 c.172+59C>T Uncertain 8_92083230_C->T 8 92083230 92083230 C T snp 212.77 0/1 99 18 11 7 0.39 intronic rs28429767 OTUD6B AU NM_016023 exon2 c.843-135C>T 0.645966 0.626 Uncertain 8_92083424_A->G 8 92083424 92083424 A G snp 2414.77 0/1 99 189 94 95 0.5 exonic rs11557571 OTUD6B AU synonymous SNV NM_016023 exon2 c.A231G p.Q77Q 0.486222 0.5833 0.495694 0.5453 0.5569 Uncertain 8_92086204_A->G 8 92086204 92086204 A G snp 873.77 0/1 99 78 42 36 0.46 intronic rs541138478 OTUD6B AU NM_016023 exon3 c.3617+65A>G 0.000199681 0.001 Uncertain 8_92090573_G->C 8 92090573 92090573 G C snp 694.77 0/1 99 70 42 28 0.4 intronic rs11786324 OTUD6B AU NM_016023 exon4 c.8061-10G>C 0.628994 0.626 0.642481 0.6580 0.6417 Uncertain 8_92096009_C->G 8 92096009 92096009 C G snp 46.78 0/1 27 3 1 2 0.67 intronic rs9643319 OTUD6B AU NM_016023 exon6 c.13713-226C>G 0.486222 0.5823 Uncertain 8_92130316_A->G 8 92130316 92130316 A G snp 1479.77 0/1 99 98 35 63 0.64 intronic rs55762572 LRRC69 AU NM_001129890 exon2 c.21831-6404A>G 0.467252 0.5784 Uncertain 8_92136728_C->T 8 92136728 92136728 C T snp 356.77 0/1 99 47 32 15 0.32 exonic rs11785003 LRRC69 AU nonsynonymous SNV NM_001129890 exon2 c.C191T p.T64I 0.467452 0.5804 0.5470 0.5945 0.43 T 0.0 P -1.001 T 0.023 T 0.009 T Pathogenic 8_92301249_G->A 8 92301249 92301249 G A snp 1034.77 0/1 99 73 36 37 0.51 intronic rs4734009 SLC26A7 AU NM_052832 exon3 c.39484-114G>A 0.509585 0.6538 Uncertain 8_92307978_C->T 8 92307978 92307978 C T snp 152.77 0/1 99 13 6 7 0.54 intronic rs10107822 SLC26A7 AU NM_052832 exon4 c.46052+47C>T 0.613419 0.6587 0.628940 0.6444 0.6071 Uncertain 8_92352887_C->T 8 92352887 92352887 C T snp 1400.77 1/1 99 50 0 50 1.0 intronic rs7012287 SLC26A7 AU NM_052832 exon8 c.90900+108C>T 0.775559 0.6954 0.8446 0.6690 Uncertain 8_92972780_G->A 8 92972780 92972780 G A snp 2369.77 1/1 99 88 0 88 1.0 intronic rs2977676 RUNX1T1 AU NM_001198634 exon1 c.276+35G>A 0.764377 0.8879 0.606259 0.5903 0.8836 Uncertain 8_93088151_C->T 8 93088151 93088151 C T snp 3329.77 1/1 99 109 0 109 1.0 intronic rs13252280 RUNX1T1 AU NM_001198628 exon11 c.115723-41C>T 0.784744 0.9861 0.723607 0.7927 0.9932 Uncertain 8_93328757_G->A 8 93328757 93328757 G A snp 92.28 1/1 9 3 0 3 1.0 intergenic rs62518659 RUNX1T1 AU Uncertain 8_93328763_G->A 8 93328763 93328763 G A snp 41.77 0/1 70 4 2 2 0.5 intergenic rs202202544 RUNX1T1 AU Uncertain 8_93328769_G->A 8 93328769 93328769 G A snp 113.77 0/1 66 6 2 4 0.67 intergenic RUNX1T1 AU Uncertain 8_93328805_T->G 8 93328805 93328805 T G snp 118.77 0/1 99 14 8 6 0.43 intergenic rs13267622 RUNX1T1 AU 0.486422 0.5466 Uncertain 8_93328829_G->A 8 93328829 93328829 G A snp 642.77 1/1 48 23 0 23 1.0 intergenic rs12114425 RUNX1T1 AU Uncertain 8_93328993_-->GAA 8 93328993 93328993 - GAA indel 1093.73 1/1 69 28 0 28 1.0 intergenic rs138085384 RUNX1T1 AU 0.186302 0.2778 Uncertain 8_93904087_T->C 8 93904087 93904087 T C snp 758.77 1/1 57 24 0 24 1.0 intronic rs3780016 TRIQK AU NM_001171796 exon2 c.5367-129T>C 0.889577 0.6865 Uncertain 8_94146656_G->T 8 94146656 94146656 G T snp 242.77 0/1 99 55 42 13 0.24 exonic rs13267247 C8orf87 AU nonsynonymous SNV NM_001242668 exon3 c.C173A p.A58E 0.231629 0.2252 0.2670 0.2717 0 D 0.0 P -0.952 T Pathogenic 8_94713316_G->A 8 94713316 94713316 G A snp 379.77 0/1 99 39 23 16 0.41 intronic rs3750290 FAM92A1 AU NM_001283034 exon2 c.576-135G>A 0.00439297 0.0198 Uncertain 8_94715965_C->G 8 94715965 94715965 C G snp 388.77 0/1 99 34 17 17 0.5 intronic rs6997642 FAM92A1 AU NM_001283034 exon3 c.3041+49C>G 0.694688 0.505 0.769060 0.7350 0.5 Uncertain 8_94739345_A->G 8 94739345 94739345 A G snp 2015.77 0/1 99 178 85 93 0.52 intronic rs2914959 FAM92A1 AU NM_001283034 exon6 c.25866+604A>G 0.252995 0.4831 0.2366 0.4948 Uncertain 8_94752754_G->A 8 94752754 94752754 G A snp 1348.77 0/1 99 95 45 50 0.53 ncRNA_exonic rs3813853 RBM12B-AS1 AU 0.427915 0.494 0.3087 0.5147 0 D 0.0 P -0.973 T Uncertain 8_94772377_G->A 8 94772377 94772377 G A snp 152.77 0/1 94 8 3 5 0.63 intronic rs11994625 TMEM67 AR NM_001142301 exon4 c.1446+156G>A 0.328275 0.5089 Uncertain 8_94775153_TTTG->- 8 94775153 94775156 TTTG - indel 2597.73 0/1 99 106 45 61 0.58 intronic rs773994299 TMEM67 AR NM_001142301 exon5 c.5294-916_5294-913delTTTG 0.0009 0 Uncertain 8_94794620_C->T 8 94794620 94794620 C T snp 336.77 0/1 99 39 23 16 0.41 splicing rs3097427 TMEM67 AR NM_001142301 exon12 c.23847-2C>T 0.715056 0.8224 0.638650 0.6341 0.8363 Pathogenic 8_94808165_A->G 8 94808165 94808165 A G snp 1785.77 0/1 99 215 132 83 0.39 exonic rs3134031 TMEM67 AR nonsynonymous SNV NM_153704 exon18 c.A1810G p.I604V 0.692891 0.7331 0.640418 0.6369 0.7418 0.34 T 0.0 P -0.947 T 0.0 T 0.0 T CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000114244.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 8_94928208_A->C 8 94928208 94928208 A C snp 877.77 0/1 99 77 45 32 0.42 upstream;downstream rs4236818 PDP1;MIR378D2 UN 0.533347 0.6756 0.6111 . Uncertain 8_94935937_T->C 8 94935937 94935937 T C snp 515.77 0/1 99 33 15 18 0.55 UTR3 rs4735258 PDP1 AR 0.495208 0.6558 0.404846 0.4676 0.6826 Uncertain 8_95143172_T->G 8 95143172 95143172 T G snp 2758.77 1/1 99 103 0 103 1.0 exonic rs1051624 CDH17 AU nonsynonymous SNV NM_001144663 exon16 c.A2216C p.E739A 0.442692 0.5327 0.473628 0.5121 0.5463 0.75 T 0.0 P -0.934 T 0.128 T 0.101 T Pathogenic 8_95143186_C->G 8 95143186 95143186 C G snp 2674.77 1/1 99 98 0 98 1.0 exonic rs1051623 CDH17 AU nonsynonymous SNV NM_001144663 exon16 c.G2202C p.E734D 0.783946 0.6925 0.833615 0.8040 0.6923 0.9 T 0.0 P -0.982 T 0.0 T 0.001 T Pathogenic 8_95158382_C->T 8 95158382 95158382 C T snp 1785.77 1/1 99 55 0 55 1.0 exonic rs1131830 CDH17 AU synonymous SNV NM_001144663 exon15 c.G1941A p.L647L 0.43151 0.5327 0.455405 0.5033 0.5472 Uncertain 8_95160949_G->T 8 95160949 95160949 G T snp 40.77 0/1 69 35 29 6 0.17 intronic rs2340024 CDH17 AU NM_001144663 exon5 c.20504-22G>T 0.2440 0.3405 Uncertain 8_95183230_C->G 8 95183230 95183230 C G snp 1443.77 0/1 99 142 78 64 0.45 intronic CDH17 AU NM_001144663 exon11 c.42746+17C>G Uncertain 8_95390921_C->T 8 95390921 95390921 C T snp 1255.77 0/1 99 101 46 55 0.54 intronic rs716770 RAD54B AU NM_012415 exon3 c.6465+59C>T 0.433906 0.4603 0.378509 Uncertain 8_95419698_A->G 8 95419698 95419698 A G snp 1386.77 0/1 99 101 51 50 0.5 exonic rs2291439 RAD54B AU synonymous SNV NM_012415 exon5 c.T750C p.N250N 0.418131 0.4663 0.361141 0.4125 0.4672 Uncertain 8_95470697_C->A 8 95470697 95470697 C A snp 190.77 0/1 99 21 11 10 0.48 intronic rs2919660 RAD54B AU NM_012415 exon13 c.86267+33C>A 0.441693 0.4603 0.388082 0.4267 0.4643 Uncertain 8_95479879_A->G 8 95479879 95479879 A G snp 3051.77 1/1 99 108 0 108 1.0 intronic rs3099398 RAD54B AU NM_012415 exon14 c.95386+96A>G 0.65635 0.8036 Uncertain 8_95479978_A->G 8 95479978 95479978 A G snp 72.77 0/1 57 5 2 3 0.6 intronic rs10216902 RAD54B AU NM_012415 exon14 c.95386+195A>G 0.441693 0.4613 Uncertain 8_95504224_G->A 8 95504224 95504224 G A snp 866.77 1/1 66 25 0 25 1.0 intronic rs3098725 KIAA1429 AU NM_015496 exon3 c.3204+87G>A 0.680511 0.8056 Uncertain 8_95507328_A->C 8 95507328 95507328 A C snp 150.9 1/1 15 5 0 5 1.0 intronic rs4366055 KIAA1429 AU NM_015496 exon5 c.6251+144A>C 0.354832 0.4861 Uncertain 8_95523038_A->G 8 95523038 95523038 A G snp 56.74 1/1 6 2 0 2 1.0 intronic rs1055800 KIAA1429 AU NM_015496 exon11 c.21947+158A>G 0.295128 0.4861 Uncertain 8_95524209_C->T 8 95524209 95524209 C T snp 1645.77 1/1 99 57 0 57 1.0 intronic rs3099412 KIAA1429 AU NM_015496 exon13 c.23290-14C>T 0.779553 0.8323 0.657620 0.6862 0.8302 Uncertain 8_95541223_C->A 8 95541223 95541223 C A snp 1300.77 1/1 96 38 0 38 1.0 intronic rs957447 KIAA1429 AU NM_015496 exon18 c.40364-74C>A 0.294129 0.4861 Uncertain 8_95541302_A->G 8 95541302 95541302 A G snp 3624.77 1/1 99 136 0 136 1.0 exonic rs957448 KIAA1429 AU synonymous SNV NM_015496 exon7 c.T876C p.G292G 0.353035 0.4861 0.259342 0.3215 0.4956 Uncertain 8_95541371_T->A 8 95541371 95541371 T A snp 4150.77 1/1 99 151 0 151 1.0 exonic rs957446 KIAA1429 AU synonymous SNV NM_015496 exon7 c.A807T p.R269R 0.702077 0.8056 0.578887 0.6446 0.8101 Uncertain 8_95541663_T->A 8 95541663 95541663 T A snp 167.9 1/1 15 5 0 5 1.0 intronic rs3098719 KIAA1429 AU NM_015496 exon18 c.40637+93T>A 0.701278 0.8056 Uncertain 8_95547005_-->T 8 95547005 95547005 - T indel 573.73 1/1 74 27 0 27 1.0 intronic rs58871154 KIAA1429 AU NM_015496 exon20 c.46133-61insT Uncertain 8_95547119_T->G 8 95547119 95547119 T G snp 1696.77 1/1 99 65 0 65 1.0 exonic rs2304764 KIAA1429 AU synonymous SNV NM_015496 exon5 c.A432C p.P144P 0.34345 0.5089 0.222436 0.3131 0.4954 Uncertain 8_95550357_A->T 8 95550357 95550357 A T snp 1938.77 1/1 99 55 0 55 1.0 intronic rs1866845 KIAA1429 AU NM_015496 exon22 c.49554-130A>T 0.71226 0.8056 Uncertain 8_95559092_T->C 8 95559092 95559092 T C snp 7694.77 1/1 99 250 0 250 1.0 intronic rs3133651 KIAA1429 AU NM_015496 exon23 c.55237+2922T>C 0.681709 0.8056 0.6871 0.8564 Uncertain 8_95565538_G->C 8 95565538 95565538 G C snp 4496.77 1/1 99 168 0 168 1.0 intronic rs3133658 KIAA1429 AU NM_015496 exon24 c.64679-74G>C 0.702875 0.8056 Uncertain 8_95651239_T->G 8 95651239 95651239 T G snp 3983.77 1/1 99 155 1 154 0.99 ncRNA_exonic rs7824334 LOC100288748 AU 0.732428 0.7937 0.8555 0.7769 Uncertain 8_95651303_G->A 8 95651303 95651303 G A snp 4564.77 1/1 99 169 0 169 1.0 ncRNA_exonic rs12679585 LOC100288748 AU 0.335663 0.5099 0.4361 0.5606 Uncertain 8_95651573_C->G 8 95651573 95651573 C G snp 3456.77 1/1 99 128 0 128 1.0 ncRNA_exonic rs13268847 LOC100288748 AU 0.430511 0.5585 0.6483 0.7105 Uncertain 8_95653537_A->C 8 95653537 95653537 A C snp 35.77 0/1 64 17 12 5 0.29 UTR5 rs772126307 ESRP1 AU 9.381e-05 0 Uncertain 8_95654043_C->T 8 95654043 95654043 C T snp 261.8 1/1 21 8 0 8 1.0 intronic rs62523409 ESRP1 AU NM_017697 exon2 c.637-140C>T 0.371406 0.5357 Uncertain 8_95655415_T->A 8 95655415 95655415 T A snp 298.78 1/1 24 8 0 8 1.0 intronic rs2303451 ESRP1 AU NM_017697 exon3 c.1984-115T>A 0.351837 0.5377 Uncertain 8_95658270_T->C 8 95658270 95658270 T C snp 99.28 1/1 9 3 0 3 1.0 intronic rs3824131 ESRP1 AU NM_017697 exon4 c.4849-125T>C 0.631789 0.7728 Uncertain 8_95658526_T->C 8 95658526 95658526 T C snp 1990.77 1/1 99 77 0 77 1.0 intronic rs60139063 ESRP1 AU NM_017697 exon4 c.4964+16T>C 0.611022 0.7728 0.575295 0.7030 0.7781 Uncertain 8_95658562_-->AAAT 8 95658562 95658562 - AAAT indel 3394.73 1/1 99 48 0 48 1.0 intronic rs57602858 ESRP1 AU NM_017697 exon4 c.4964+52insAAAT 0.611022 0.7728 0.564599 Uncertain 8_95673674_A->C 8 95673674 95673674 A C snp 1168.77 1/1 87 39 0 39 1.0 intronic rs6471455 ESRP1 AU NM_017697 exon5 c.20953-825A>C 0.936102 0.9524 Uncertain 8_95673945_A->G 8 95673945 95673945 A G snp 556.77 1/1 42 14 0 14 1.0 intronic rs7820441 ESRP1 AU NM_017697 exon5 c.20953-554A>G 0.357628 0.5625 Uncertain 8_95674432_G->C 8 95674432 95674432 G C snp 267.8 1/1 21 8 0 8 1.0 intronic rs2303453 ESRP1 AU NM_017697 exon5 c.20953-67G>C 0.357228 0.5605 Uncertain 8_95674823_-->T 8 95674823 95674823 - T indel 232.73 1/1 35 20 0 20 1.0 intronic rs11404889 ESRP1 AU NM_017697 exon6 c.21237+40insT 0.57528 0.8075 0.433463 0.5066 0.6071 Uncertain 8_95677132_T->C 8 95677132 95677132 T C snp 1187.77 1/1 66 45 1 44 0.98 intronic rs1426171 ESRP1 AU NM_017697 exon8 c.23608-22T>C 0.718051 0.7619 0.697111 0.7361 0.8003 Uncertain 8_95680229_C->T 8 95680229 95680229 C T snp 4950.77 1/1 99 176 2 174 0.99 exonic rs1549466 ESRP1 AU synonymous SNV NM_001034915 exon10 c.C984T p.V328V 0.352436 0.5387 0.293121 0.4026 0.5909 1.0 P -0.909 T Likely benign 8_95690579_T->C 8 95690579 95690579 T C snp 2763.77 1/1 99 95 0 95 1.0 exonic rs12677519 ESRP1 AU synonymous SNV NM_001034915 exon13 c.T1788C p.N596N 0.492412 0.5407 0.491301 0.5759 0.5875 Uncertain 8_95793515_G->A 8 95793515 95793515 G A snp 307.78 1/1 24 8 0 8 1.0 intronic rs4398879 DPY19L4 AU NM_181787 exon16 c.61168+121G>A 0.809704 0.9514 Uncertain 8_95800325_T->A 8 95800325 95800325 T A snp 93.28 1/1 9 3 0 3 1.0 intronic rs4428644 DPY19L4 AU NM_181787 exon18 c.68054+45T>A 0.507987 0.5546 0.5529 0.5922 Uncertain 8_95853708_G->A 8 95853708 95853708 G A snp 3115.77 1/1 99 119 0 119 1.0 intronic rs11996455 INTS8 AU NM_017864 exon9 c.18059-10G>A 0.524561 0.6548 0.444402 0.4989 0.6574 Uncertain 8_95853907_A->G 8 95853907 95853907 A G snp 1314.77 1/1 96 40 0 40 1.0 intronic rs13271375 INTS8 AU NM_017864 exon9 c.18160+88A>G 0.492013 0.6548 Uncertain 8_95853948_A->G 8 95853948 95853948 A G snp 389.77 1/1 30 10 0 10 1.0 intronic rs13271644 INTS8 AU NM_017864 exon9 c.18160+129A>G 0.566494 0.6617 Uncertain 8_95877787_T->C 8 95877787 95877787 T C snp 5982.77 1/1 99 220 0 220 1.0 exonic rs713113 INTS8 AU synonymous SNV NM_017864 exon17 c.T2130C p.S710S 0.566693 0.6607 0.507535 0.5499 0.6588 1.0 P -0.917 T Likely benign 8_95886551_A->G 8 95886551 95886551 A G snp 592.77 1/1 45 18 0 18 1.0 intronic rs10956928 INTS8 AU NM_017864 exon23 c.51120-228A>G 0.742612 0.8006 Uncertain 8_95888307_C->T 8 95888307 95888307 C T snp 800.77 1/1 60 32 0 32 1.0 exonic rs1129152 INTS8 AU synonymous SNV NM_017864 exon24 c.C2694T p.A898A 0.470048 0.6528 0.365672 0.4544 0.6543 1.0 P -0.955 T Likely benign 8_95906554_C->G 8 95906554 95906554 C G snp 682.77 1/1 51 20 0 20 1.0 intronic rs2466431 CCNE2 AU NM_057749 exon11 c.12616+79C>G 0.952276 0.9028 Uncertain 8_95951917_TGAC->- 8 95951917 95951920 TGAC - indel 2083.73 1/1 90 30 0 30 1.0 intronic rs56362649 TP53INP1 AU NM_001135733 exon3 c.7774-170_7774-167delTGAC 0.645767 0.7808 0.6997 0.8044 Uncertain 8_95952477_A->G 8 95952477 95952477 A G snp 2982.77 1/1 99 103 0 103 1.0 intronic rs2956210 TP53INP1 AU NM_001135733 exon3 c.8135+29A>G 0.677915 0.7808 0.650147 0.7017 0.7908 Uncertain 8_95952621_A->C 8 95952621 95952621 A C snp 139.03 1/1 12 4 0 4 1.0 intronic rs2904893 TP53INP1 AU NM_001135733 exon3 c.8135+173A>C 0.66893 0.7808 Uncertain 8_96046094_G->A 8 96046094 96046094 G A snp 2511.77 1/1 99 78 1 77 0.99 intronic rs2678823 NDUFAF6 AR,AO NM_152416 exon3 c.10445-1587G>A 0.770367 0.9464 Uncertain 8_96047806_-->AA 8 96047806 96047806 - AA indel 653.73 ./1 99 46 1 45 0.98 splicing rs34960210 NDUFAF6 AR,AO NM_152416 exon3 c.10568+2insAA 0.048000 0.0145 0.0265 Pathogenic 8_96047806_-->A 8 96047806 96047806 - A indel 653.73 ./1 99 46 1 45 0.98 splicing rs34960210 NDUFAF6 AR,AO NM_152416 exon3 c.10568+2insA 0.63758 0.7321 0.574667 0.5179 0.5154 Pathogenic 8_96053783_CT->- 8 96053783 96053784 CT - indel 1936.73 1/1 99 41 0 41 1.0 intronic rs546539574 NDUFAF6 AR,AO NM_152416 exon4 c.16561-14_16561-13delCT 0.770767 0.9464 0.731839 0.7915 0.9417 Uncertain 8_96054000_C->T 8 96054000 96054000 C T snp 99.28 1/1 9 3 0 3 1.0 intronic rs7818382 NDUFAF6 AR,AO NM_152416 exon4 c.16618+146C>T 0.479433 0.6865 Uncertain 8_96070181_T->C 8 96070181 96070181 T C snp 1493.77 1/1 99 55 0 55 1.0 UTR3 rs2678832 NDUFAF6 AR,AO 0.926518 1 0.917380 0.9433 0.9998 Uncertain 8_96085317_C->T 8 96085317 96085317 C T snp 293.78 1/1 24 9 0 9 1.0 upstream;downstream rs4641029 MIR3150B;MIR3150A UN 0.640176 0.8135 Uncertain 8_96264286_G->A 8 96264286 96264286 G A snp 190.77 0/1 99 20 12 8 0.4 intronic rs62522659 C8orf37 AR NM_177965 exon2 c.4571-129G>A 0.160144 0.1478 Uncertain 8_97244217_-->T 8 97244217 97244217 - T indel 887.73 0/1 99 89 44 45 0.51 intronic rs142060471 UQCRB AR NM_006294 exon2 c.886+49insT 0.0181709 0.0655 0.002321 0.0087 0.0659 Uncertain 8_97321898_T->A 8 97321898 97321898 T A snp 811.77 0/1 99 51 19 32 0.63 intronic rs961075 PTDSS1 AD NM_014754 exon9 c.47582+48T>A 0.410942 0.3085 0.461018 0.4141 0.3072 Uncertain 8_97332661_A->G 8 97332661 97332661 A G snp 1398.77 0/1 99 111 56 55 0.5 intronic rs3735987 PTDSS1 AD NM_014754 exon10 c.58305+88A>G 0.363019 0.0992 Uncertain 8_97342536_A->G 8 97342536 97342536 A G snp 2635.77 0/1 99 210 102 108 0.51 intronic rs2280263 PTDSS1 AD NM_014754 exon11 c.68241+27A>G 0.446885 0.6121 0.407658 0.4762 0.5977 Uncertain 8_97342582_C->T 8 97342582 97342582 C T snp 1163.77 0/1 99 98 52 46 0.47 intronic rs7001397 PTDSS1 AD NM_014754 exon11 c.68241+73C>T 0.363818 0.0982 Uncertain 8_97343176_G->T 8 97343176 97343176 G T snp 289.77 0/1 99 22 10 12 0.55 intronic rs2271775 PTDSS1 AD NM_014754 exon12 c.68985-77G>T 0.438498 0.6121 Uncertain 8_97343327_TCTTGT->- 8 97343327 97343332 TCTTGT - indel 3108.73 0/1 99 100 52 48 0.48 splicing rs3830537 PTDSS1 AD NM_014754 exon12 c.69055+4_69055+9delTCTTGT 0.253994 0.0962 0.353514 0.3511 0.0965 Pathogenic 8_97345590_A->G 8 97345590 97345590 A G snp 182.9 1/1 15 5 0 5 1.0 intronic rs3735986 PTDSS1 AD NM_014754 exon13 c.71416-94A>G 0.701078 0.7044 Uncertain 8_97384315_A->T 8 97384315 97384315 A T snp 793.77 0/1 99 53 24 29 0.55 ncRNA_exonic rs2319815 LOC102724804 AU 0.26857 0.0933 Uncertain 8_97384408_C->T 8 97384408 97384408 C T snp 1425.77 0/1 99 122 58 64 0.52 ncRNA_exonic rs2244423 LOC102724804 AU 0.477436 0.1518 0.4976 0.1594 Uncertain 8_97384493_C->T 8 97384493 97384493 C T snp 811.77 0/1 99 64 33 31 0.48 ncRNA_intronic rs542654969 LOC102724804 AU 0.000599042 0.003 Uncertain 8_97398107_TCTC->- 8 97398107 97398110 TCTC - indel 1938.73 ./1 99 57 7 50 0.88 ncRNA_intronic rs140086814 LOC102724804 AU 0.189297 0.0933 Uncertain 8_97398106_-->TC 8 97398106 97398106 - TC indel 1938.73 ./1 99 57 7 50 0.88 ncRNA_intronic rs397688874 LOC102724804 AU Uncertain 8_97398724_T->C 8 97398724 97398724 T C snp 2089.77 0/1 99 164 74 90 0.55 ncRNA_exonic rs62516307 LOC102724804 AU 0.0802716 0.0823 0.1727 0.0909 Uncertain 8_97506373_C->G 8 97506373 97506373 C G snp 388.77 0/1 99 22 8 14 0.64 UTR5 rs880938 SDC2 AU 0.482428 0.4504 Uncertain 8_97620553_C->G 8 97620553 97620553 C G snp 1145.77 0/1 99 96 45 51 0.53 intronic rs2278608 SDC2 AU NM_002998 exon4 c.114063-9C>G 0.0303514 0.127 0.001768 0.0163 0.1544 Uncertain 8_97847358_G->T 8 97847358 97847358 G T snp 1115.77 0/1 99 68 29 39 0.57 exonic rs1864384 CPQ AU synonymous SNV NM_016134 exon3 c.G591T p.V197V 0.609225 0.8829 0.563817 0.6295 0.8867 Uncertain 8_98289986_C->T 8 98289986 98289986 C T snp 2118.77 0/1 99 211 118 93 0.44 exonic rs28669903 TSPYL5 AU synonymous SNV NM_033512 exon1 c.G87A p.P29P 0.583866 0.6339 0.590960 0.6848 0.6525 Uncertain 8_98673250_C->T 8 98673250 98673250 C T snp 1447.77 0/1 99 112 50 62 0.55 intronic rs16896067 MTDH AU NM_178812 exon2 c.16565-49C>T 0.238219 0.379 0.200677 0.2478 0.3808 Uncertain 8_98712108_T->- 8 98712108 98712108 T - indel 718.73 0/1 99 57 24 33 0.58 intronic rs76537339 MTDH AU NM_178812 exon7 c.55346+28delT 0.199121 0.2400 0.3290 Uncertain 8_98787739_C->T 8 98787739 98787739 C T snp 52.77 0/1 81 14 9 5 0.36 upstream rs2002451 LAPTM4B AU 0.246406 0.2927 Uncertain 8_98787994_A->G 8 98787994 98787994 A G snp 2059.77 1/1 99 73 0 73 1.0 exonic rs2449510 LAPTM4B AU synonymous SNV NM_018407 exon1 c.A30G p.P10P 0.777356 0.7728 0.6616 0.7652 Uncertain 8_98788033_G->C 8 98788033 98788033 G C snp 1666.77 1/1 99 56 0 56 1.0 exonic rs2449509 LAPTM4B AU synonymous SNV NM_018407 exon1 c.G69C p.A23A 0.733427 0.75 0.688910 0.6378 0.7062 Uncertain 8_98817432_C->G 8 98817432 98817432 C G snp 396.77 1/1 30 14 0 14 1.0 intronic rs4735496 LAPTM4B AU NM_018407 exon2 c.29616-148C>G 0.426518 0.5516 Uncertain 8_98817559_-->G 8 98817559 98817559 - G indel 1548.73 1/1 99 38 0 38 1.0 intronic rs112813626 LAPTM4B AU NM_018407 exon2 c.29616-21insG 0.815895 0.8978 0.4303 0.4873 Uncertain 8_98827531_G->A 8 98827531 98827531 G A snp 1076.77 1/1 78 41 0 41 1.0 intronic rs7818775 LAPTM4B AU NM_018407 exon3 c.39591-24G>A 0.440096 0.5526 0.427803 0.4840 0.5840 0.0 P Uncertain 8_98827636_C->A 8 98827636 98827636 C A snp 1656.77 1/1 99 60 0 60 1.0 intronic rs7818662 LAPTM4B AU NM_018407 exon3 c.39665+7C>A 0.440296 0.5526 0.442104 0.4814 0.5800 Uncertain 8_98828215_-->CTT 8 98828215 98828215 - CTT indel 1685.73 1/1 87 29 0 29 1.0 intronic rs3073521 LAPTM4B AU NM_018407 exon4 c.40321-70insCTT 0.440096 0.5526 Uncertain 8_98828529_A->G 8 98828529 98828529 A G snp 450.41 1/1 8 16 1 15 0.94 intronic rs2331656 LAPTM4B AU NM_018407 exon4 c.40444+121A>G 0.432708 0.5526 Uncertain 8_98828532_C->G 8 98828532 98828532 C G snp 433.77 1/1 33 14 0 14 1.0 intronic rs2331657 LAPTM4B AU NM_018407 exon4 c.40444+124C>G 0.440096 0.5526 Uncertain 8_98828550_TC->- 8 98828550 98828551 TC - indel 267.74 1/1 27 9 0 9 1.0 intronic LAPTM4B AU NM_018407 exon4 c.40444+142_40444+143delTC 0.00119808 0.006 Uncertain 8_98831577_G->A 8 98831577 98831577 G A snp 1763.77 1/1 99 67 1 66 0.99 intronic rs62524114 LAPTM4B AU NM_018407 exon5 c.43502+111G>A 0.439297 0.5506 Uncertain 8_98863876_G->A 8 98863876 98863876 G A snp 95.28 1/1 9 4 0 4 1.0 UTR3 rs1136594 LAPTM4B AU 0.623003 0.4802 Uncertain 8_98943446_T->C 8 98943446 98943446 T C snp 2945.77 0/1 99 213 92 121 0.57 exonic rs2290470 MATN2 AU synonymous SNV NM_002380 exon3 c.T408C p.T136T 0.427117 0.7808 0.304765 0.3793 0.7612 Uncertain 8_98943545_A->G 8 98943545 98943545 A G snp 1754.77 0/1 99 165 97 68 0.41 exonic rs2290471 MATN2 AU synonymous SNV NM_002380 exon3 c.A507G p.T169T 0.277556 0.0804 0.333491 0.2698 0.0845 Uncertain 8_98943598_C->T 8 98943598 98943598 C T snp 1746.77 0/1 99 146 77 69 0.47 exonic rs2290472 MATN2 AU nonsynonymous SNV NM_002380 exon3 c.C560T p.T187M 0.0908546 0.0804 0.130307 0.1476 0.0835 0.03 T 1.000 P -0.655 T 1.0 D 0.983 D Pathogenic 8_98954012_T->C 8 98954012 98954012 T C snp 3729.77 1/1 99 119 0 119 1.0 exonic rs2513845 MATN2 AU synonymous SNV NM_002380 exon4 c.T720C p.H240H 0.972843 0.9315 0.991767 0.9865 0.9219 1.000 P -1.005 T Likely benign 8_98954272_T->A 8 98954272 98954272 T A snp 2160.77 1/1 99 62 0 62 1.0 intronic rs3018906 MATN2 AU NM_030583 exon4 c.53799+145T>A 0.408546 0.6012 Uncertain 8_98973560_C->T 8 98973560 98973560 C T snp 797.77 0/1 99 70 35 35 0.5 intronic rs62523561 MATN2 AU NM_030583 exon5 c.73307-75C>T 0.278954 0.369 Uncertain 8_98991221_A->G 8 98991221 98991221 A G snp 1815.77 0/1 99 171 91 80 0.47 exonic rs1869609 MATN2 AU nonsynonymous SNV NM_002380 exon6 c.A1066G p.K356E 0.413738 0.2937 0.589872 0.5363 0.2717 0.14 T 0.283 P -0.952 T 0.005 T 0.029 T Pathogenic 8_99019979_A->G 8 99019979 99019979 A G snp 50.74 1/1 6 3 0 3 1.0 intronic rs2444893 MATN2 AU NM_030583 exon10 c.119501+150A>G 0.998203 0.9911 Uncertain 8_99039774_C->T 8 99039774 99039774 C T snp 1919.77 0/1 99 149 71 78 0.52 exonic rs2290466 MATN2 AU synonymous SNV NM_002380 exon14 c.C2073T p.A691A 0.120807 0.254 0.055228 0.1046 0.2983 1.000 P -1.053 T Likely benign 8_99102403_G->A 8 99102403 99102403 G A snp 307.77 0/1 99 15 6 9 0.6 intronic rs768420 ERICH5 AU NM_173549 exon2 c.25360+146G>A 0.190695 0.253 Uncertain 8_99105726_T->C 8 99105726 99105726 T C snp 32.77 0/1 61 7 5 2 0.29 UTR3 rs2306129 ERICH5 AU 0.403554 0.4593 Uncertain 8_99115144_A->G 8 99115144 99115144 A G snp 1832.77 0/1 99 137 65 72 0.53 intronic rs2447497 HRSP12 AU NM_005836 exon1 c.63+12A>G 0.138179 0.2768 0.086345 0.1319 0.2954 Uncertain 8_99118622_A->C 8 99118622 99118622 A C snp 211.77 0/1 99 23 13 10 0.43 intronic rs2242197 HRSP12 AU NM_005836 exon4 c.3485+68A>C 0.212061 0.2827 0.254490 Uncertain 8_99118654_C->T 8 99118654 99118654 C T snp 362.78 1/1 27 14 0 14 1.0 intronic rs2242196 HRSP12 AU NM_005836 exon4 c.3485+100C>T 0.821685 0.7004 Uncertain 8_99118732_T->A 8 99118732 99118732 T A snp 56.74 1/1 6 2 0 2 1.0 intronic rs2514336 HRSP12 AU NM_005836 exon4 c.3485+178T>A 0.888978 0.7917 Uncertain 8_99121036_C->T 8 99121036 99121036 C T snp 1044.77 1/1 75 37 0 37 1.0 intronic rs74715936 HRSP12 AU NM_005836 exon5 c.5910+57C>T 0.105032 0.1677 Uncertain 8_99121037_T->A 8 99121037 99121037 T A snp 1034.77 1/1 78 37 1 36 0.97 intronic rs79587389 HRSP12 AU NM_005836 exon5 c.5910+58T>A 0.105032 0.1677 Uncertain 8_99121038_A->G 8 99121038 99121038 A G snp 975.77 1/1 77 37 1 36 0.97 intronic rs76631768 HRSP12 AU NM_005836 exon5 c.5910+59A>G 2.83e-05 0 Uncertain 8_99121076_AA->- 8 99121076 99121077 AA - indel 488.73 ./1 99 21 0 21 1.0 intronic rs35654897 HRSP12 AU NM_005836 exon5 c.5910+97_5910+98delAA 0.212859 0.2639 Uncertain 8_99121076_A->- 8 99121076 99121076 A - indel 488.73 ./1 99 21 0 21 1.0 intronic rs34364402 HRSP12 AU NM_005836 exon5 c.5910+97delA 0.198083 0.2817 Uncertain 8_99140544_G->A 8 99140544 99140544 G A snp 781.77 1/1 57 27 0 27 1.0 intronic rs2447508 POP1 AU NM_015029 exon4 c.5027-48G>A 1 1 0.9999 0.9994 Uncertain 8_99162634_T->C 8 99162634 99162634 T C snp 493.77 0/1 99 35 15 20 0.57 intronic rs7000738 POP1 AU NM_015029 exon14 c.27147-78T>C 0.43151 0.1786 Uncertain 8_99162888_A->G 8 99162888 99162888 A G snp 3184.79 1/1 99 117 0 117 1.0 intronic rs4735530 POP1 AU NM_015029 exon14 c.27302+21A>G 0.700879 0.4613 0.700292 0.6417 0.4636 Uncertain 8_99205111_T->C 8 99205111 99205111 T C snp 1719.77 0/1 99 110 51 59 0.54 UTR3 rs3735885 NIPAL2 AU 0.584265 0.5893 Uncertain 8_99205612_C->T 8 99205612 99205612 C T snp 3072.77 0/1 99 250 124 126 0.5 splicing rs3735887 NIPAL2 AU NM_024759 exon2 c.334C>T 0.582668 0.5893 0.512686 0.5364 0.5993 0.003 P Pathogenic 8_99208065_T->C 8 99208065 99208065 T C snp 147.77 0/1 99 16 9 7 0.44 intronic rs13264255 NIPAL2 AU NM_024759 exon4 c.2891-104T>C 0.527756 0.5883 Uncertain 8_99208190_A->C 8 99208190 99208190 A C snp 337.77 0/1 99 40 23 17 0.42 exonic rs3779721 NIPAL2 AU synonymous SNV NM_024759 exon9 c.T924G p.T308T 0.407348 0.4325 0.340434 0.3896 0.4633 Uncertain 8_99208244_G->T 8 99208244 99208244 G T snp 362.77 0/1 99 29 11 18 0.62 intronic rs7010905 NIPAL2 AU NM_024759 exon4 c.2955+11G>T 0.186701 0.0823 0.254154 0.2491 0.0756 Uncertain 8_99234772_T->G 8 99234772 99234772 T G snp 4696.77 1/1 99 182 0 182 1.0 exonic rs77774174 NIPAL2 AU nonsynonymous SNV NM_024759 exon5 c.A493C p.T165P 0.0375399 0.1667 0.001076 0.0193 0.2057 0.18 T 0.795 N -0.313 T 0.007 T 0.014 T Pathogenic 8_99735209_-->A 8 99735209 99735209 - A indel 448.73 0/1 99 60 30 30 0.5 intronic rs201288237 STK3 AU NM_006281 exon7 c.251470+15670insA 0.081869 0.0734 0.062892 0.0913 0.0730 Uncertain 8_99960276_A->G 8 99960276 99960276 A G snp 321.77 0/1 99 26 15 11 0.42 intronic rs7814088 OSR2 AU 0.0780751 0.0585 Uncertain 8_100026275_T->C 8 100026275 100026275 T C snp 393.77 0/1 99 27 11 16 0.59 intronic rs12547849 VPS13B AR NM_015243 exon2 c.147+112T>C 0.191294 0.4058 Uncertain 8_100160283_TT->- 8 100160283 100160284 TT - indel 431.73 ./1 99 57 5 52 0.91 intronic rs199769640 VPS13B AR NM_015243 exon14 c.134222+45_134222+46delTT 0.19988 0.3472 0.1954 0.3276 Uncertain 8_100160283_T->- 8 100160283 100160283 T - indel 431.73 ./1 99 57 5 52 0.91 intronic rs540487346 VPS13B AR NM_015243 exon14 c.134222+45delT 0.308706 0.1994 0.3271 0.2259 Uncertain 8_100160338_G->T 8 100160338 100160338 G T snp 151.77 0/1 99 11 5 6 0.55 intronic rs79506327 VPS13B AR NM_015243 exon14 c.134222+100G>T 0.0784744 0.0585 Uncertain 8_100443679_A->T 8 100443679 100443679 A T snp 409.77 0/1 99 31 15 16 0.52 intronic rs3103703 VPS13B AR NM_017890 exon22 c.417748-85A>T 0.207867 0.4097 Uncertain 8_100479917_T->C 8 100479917 100479917 T C snp 246.77 0/1 99 25 16 9 0.36 intronic rs3134156 VPS13B AR NM_017890 exon24 c.453846+55T>C 0.208466 0.4137 Uncertain 8_100548975_C->T 8 100548975 100548975 C T snp 1511.77 0/1 99 167 100 67 0.4 intronic rs16897440 VPS13B AR NM_017890 exon30 c.507222+15737C>T 0.208267 0.4127 0.150971 0.2177 0.4171 Uncertain 8_100673421_G->A 8 100673421 100673421 G A snp 65.77 0/1 94 8 5 3 0.38 intronic rs1788156 VPS13B AR NM_017890 exon35 c.647565-160G>A 0.189297 0.4137 Uncertain 8_100733188_A->G 8 100733188 100733188 A G snp 2775.77 0/1 99 239 119 120 0.5 exonic rs61753724 VPS13B AR synonymous SNV NM_017890 exon39 c.A7038G p.V2346V 0.0704872 0.0595 0.073505 0.0484 0.0620 Uncertain 8_100791156_T->C 8 100791156 100791156 T C snp 2486.77 0/1 99 202 103 99 0.49 exonic rs7833870 VPS13B AR nonsynonymous SNV NM_017890 exon42 c.T7751C p.V2584A 0.0900559 0.0456 0.096033 0.0537 0.0521 0.96 T 0.0 P -1.050 T 0.0 T 0.0 T Pathogenic 8_100836362_A->G 8 100836362 100836362 A G snp 83.77 0/1 69 5 2 3 0.6 intronic rs2290153 VPS13B AR NM_017890 exon51 c.810190+156A>G 0.0183706 0.0645 Uncertain 8_100847371_A->G 8 100847371 100847371 A G snp 938.77 0/1 99 96 53 43 0.45 intronic rs80011373 VPS13B AR NM_017890 exon53 c.821408-53A>G 0.00279553 0.0139 Uncertain 8_100861146_G->A 8 100861146 100861146 G A snp 1637.77 0/1 99 125 60 65 0.52 intronic rs34513504 VPS13B AR NM_017890 exon55 c.835106+24G>A 0.223642 0.1329 0.248578 0.1777 0.1311 Uncertain 8_100865836_G->A 8 100865836 100865836 G A snp 1683.77 0/1 99 158 88 70 0.44 exonic rs6468694 VPS13B AR nonsynonymous SNV NM_017890 exon56 c.G10294A p.G3432R 0.111022 0.1171 0.119637 0.1230 0.1169 0.68 T 0.000 P -1.079 T 0.001 T 0.002 T Pathogenic 8_100871752_T->- 8 100871752 100871752 T - indel 162.73 0/1 99 48 18 30 0.63 intronic rs10710929 VPS13B AR NM_017890 exon57 c.845692+44delT 0.3587 0.3528 Uncertain 8_100899793_G->A 8 100899793 100899793 G A snp 525.77 0/1 99 54 30 24 0.44 exonic rs1130569 COX6C AU synonymous SNV NM_004374 exon3 c.C168T p.Y56Y 0.249401 0.13 0.284802 0.1932 0.1297 Uncertain 8_100904277_T->C 8 100904277 100904277 T C snp 1042.77 0/1 99 59 20 39 0.66 UTR5 rs1130474 COX6C AU 0.234425 0.1339 0.267569 0.1897 0.1315 Uncertain 8_100974503_C->T 8 100974503 100974503 C T snp 2004.77 1/1 99 68 0 68 1.0 intronic rs73274908 RGS22 AU 0.104433 0.0813 Uncertain 8_100975002_A->G 8 100975002 100975002 A G snp 2488.77 1/1 99 101 0 101 1.0 intronic rs6468700 RGS22 AU NM_001286693 exon3 c.329+7A>G 0.998203 0.9931 0.9997 0.9963 Uncertain 8_100994126_A->G 8 100994126 100994126 A G snp 1084.77 1/1 78 36 0 36 1.0 intronic rs73274939 RGS22 AU NM_001286693 exon7 c.19498-38A>G 0.110224 0.1131 0.086221 0.0806 0.1243 Uncertain 8_100994389_C->T 8 100994389 100994389 C T snp 432.77 1/1 33 12 0 12 1.0 intronic rs6468704 RGS22 AU NM_001286693 exon7 c.19678+45C>T 0.372604 0.1726 0.359085 0.2474 0.1901 Uncertain 8_100999575_A->T 8 100999575 100999575 A T snp 718.77 1/1 54 21 0 21 1.0 intronic rs12545059 RGS22 AU NM_001286693 exon8 c.25019-110A>T 0.28155 0.3591 Uncertain 8_101117554_T->G 8 101117554 101117554 T G snp 236.77 0/1 99 32 21 11 0.34 intronic rs1471294 RGS22 AU NM_001286693 exon26 c.142935-47T>G 0.300319 0.5129 0.282713 0.3745 0.5043 Uncertain 8_101117734_A->G 8 101117734 101117734 A G snp 1660.77 0/1 99 161 90 71 0.44 UTR5 rs1471293 RGS22 AU 0.696286 0.7044 Uncertain 8_101137897_T->C 8 101137897 101137897 T C snp 1361.77 0/1 99 116 55 61 0.53 intergenic rs2453626 RGS22 AU 0.629992 0.6468 Uncertain 8_101138096_T->C 8 101138096 101138096 T C snp 287.77 0/1 99 36 25 11 0.31 intergenic rs1460933 RGS22 AU 0.694289 0.7054 Uncertain 8_101149939_G->C 8 101149939 101149939 G C snp 1237.77 0/1 99 91 40 51 0.56 intronic rs2453629 FBXO43 AU NM_001029860 exon3 c.3866+44G>C 0.323283 0.5188 0.300153 0.3622 0.5154 Uncertain 8_101153024_G->A 8 101153024 101153024 G A snp 1741.77 0/1 99 180 99 81 0.45 exonic rs1460934 FBXO43 AU synonymous SNV NM_001029860 exon2 c.C1458T p.I486I 0.658147 0.7292 0.592668 0.6016 0.7047 Uncertain 8_101157227_G->A 8 101157227 101157227 G A snp 299.77 0/1 99 49 35 14 0.29 intronic rs2514689 FBXO43 AU NM_001029860 exon5 c.11249-51G>A 0.475839 0.6022 0.413710 0.4528 0.6474 Uncertain 8_101174388_C->T 8 101174388 101174388 C T snp 44.77 0/1 33 3 1 2 0.67 intronic rs77783647 SPAG1 AR 0.0485224 0.1835 Uncertain 8_101196824_G->A 8 101196824 101196824 G A snp 707.77 0/1 99 73 45 28 0.38 intronic rs2453656 SPAG1 AR NM_003114 exon7 c.22347-31G>A 0.435304 0.6081 0.375847 0.4066 0.6164 Uncertain 8_101225298_C->T 8 101225298 101225298 C T snp 1508.77 0/1 99 134 67 67 0.5 intronic rs3098659 SPAG1 AR NM_003114 exon11 c.50809-19C>T 0.340056 0.5218 0.174530 0.3686 0.4844 Uncertain 8_101225559_C->G 8 101225559 101225559 C G snp 1321.77 0/1 99 89 33 56 0.63 exonic rs2514681 SPAG1 AR synonymous SNV NM_172218 exon11 c.C1338G p.A446A 0.342053 0.5228 0.5329 0.6014 Uncertain 8_101225708_C->A 8 101225708 101225708 C A snp 226.77 0/1 99 52 40 12 0.23 intronic rs1660352 SPAG1 AR NM_003114 exon11 c.51148+52C>A 0.14377 0.2163 0.2 0.2857 Uncertain 8_101225838_C->G 8 101225838 101225838 C G snp 193.82 0/1 19 9 1 8 0.89 intronic rs2514682 SPAG1 AR NM_003114 exon11 c.51148+182C>G 0.673722 0.6825 Uncertain 8_101232701_T->C 8 101232701 101232701 T C snp 1278.77 0/1 99 104 54 50 0.48 intronic rs2919471 SPAG1 AR NM_003114 exon13 c.58151+42T>C 0.686302 0.5952 0.679840 0.6410 0.5803 Uncertain 8_101252680_T->C 8 101252680 101252680 T C snp 1011.77 0/1 99 56 21 35 0.63 exonic rs6511 SPAG1 AR nonsynonymous SNV NM_172218 exon18 c.T2330C p.M777T 0.627396 0.5327 0.637552 0.6179 0.5067 0.89 T 0.0 P -0.994 T 0.0 T 0.0 T Pathogenic 8_101253184_G->A 8 101253184 101253184 G A snp 1260.77 0/1 99 80 26 54 0.68 exonic rs1788190 SPAG1 AR synonymous SNV NM_172218 exon19 c.G2715A p.S905S 0.299121 0.5149 0.272105 0.3542 0.4906 Uncertain 8_101281238_C->A 8 101281238 101281238 C A snp 401.77 0/1 99 29 15 14 0.48 intronic rs7014862 RNF19A AU NM_001280539 exon6 c.10392+63C>A 0.695288 0.4821 Uncertain 8_101281271_C->T 8 101281271 101281271 C T snp 169.77 0/1 99 14 7 7 0.5 intronic rs1660324 RNF19A AU NM_001280539 exon6 c.10392+96C>T 0.314297 0.4087 Uncertain 8_101542205_G->T 8 101542205 101542205 G T snp 134.77 0/1 99 18 13 5 0.28 intronic rs2469652 ANKRD46 AU NM_001270379 exon4 c.19284+117G>T 0.536941 0.3264 Uncertain 8_101586133_T->C 8 101586133 101586133 T C snp 1053.77 0/1 99 104 56 48 0.46 exonic rs2022923 SNX31 AU nonsynonymous SNV NM_152628 exon14 c.A1283G p.D428G 0.411941 0.2778 0.464154 0.4182 0.2944 0.64 T 0.0 P -0.976 T 0.0 T 0.001 T Pathogenic 8_101600966_G->A 8 101600966 101600966 G A snp 72.77 0/1 99 7 4 3 0.43 intronic rs2507780 SNX31 AU NM_152628 exon4 c.15001-127G>A 0.3748 0.0992 Uncertain 8_101620958_C->T 8 101620958 101620958 C T snp 44.78 0/1 27 4 2 2 0.5 intronic rs73274506 SNX31 AU NM_152628 exon7 c.34699+167C>T 0.128994 0.0446 Uncertain 8_101625479_C->T 8 101625479 101625479 C T snp 159.77 0/1 99 16 10 6 0.38 intronic rs1078186 SNX31 AU NM_152628 exon9 c.39221+166C>T 0.433307 0.2569 Uncertain 8_101642668_C->T 8 101642668 101642668 C T snp 896.77 0/1 99 84 41 43 0.51 intronic rs7828798 SNX31 AU NM_152628 exon11 c.56527+49C>T 0.232827 0.249 0.172536 0.1640 0.2371 Uncertain 8_101648110_C->G 8 101648110 101648110 C G snp 739.77 0/1 99 73 37 36 0.49 intronic rs2187017 SNX31 AU NM_152628 exon12 c.62032-14C>G 0.330671 0.2569 0.296863 0.2466 0.2366 Uncertain 8_101648164_C->G 8 101648164 101648164 C G snp 1039.77 0/1 99 104 56 48 0.46 exonic rs2187016 SNX31 AU nonsynonymous SNV NM_152628 exon3 c.G217C p.D73H 0.33127 0.2579 0.297401 0.2472 0.2404 0.02 T 1.000 P -0.903 T 0.81 T 0.715 P Pathogenic 8_101648308_T->C 8 101648308 101648308 T C snp 337.77 0/1 99 23 9 14 0.61 intronic rs2155881 SNX31 AU NM_152628 exon12 c.62147+69T>C 0.40635 0.2758 Uncertain 8_101661603_T->G 8 101661603 101661603 T G snp 1666.77 0/1 99 149 73 76 0.51 intronic rs7016136 SNX31 AU NM_152628 exon13 c.75484+27T>G 0.521965 0.5298 0.443565 0.4757 0.5297 Uncertain 8_101661634_C->T 8 101661634 101661634 C T snp 1477.77 0/1 99 122 53 69 0.57 intronic rs12681977 SNX31 AU NM_152628 exon14 c.75584-42C>T 0.479233 0.5139 0.368883 0.4346 0.5295 Uncertain 8_101670026_G->T 8 101670026 101670026 G T snp 79.77 0/1 99 9 5 4 0.44 intergenic rs147303659 SNX31 AU 0.0433307 0.1121 0.0324 0.0985 0.03 T 1.000 N -1.056 T Uncertain 8_101718932_C->G 8 101718932 101718932 C G snp 694.77 0/1 99 96 61 35 0.36 exonic rs62513920 PABPC1 AU nonsynonymous SNV NM_002568 exon11 c.G1549C p.V517L 0.2544 0.2726 0.32 T 1.000 D -1.002 T 0.0 T 0.003 T Pathogenic 8_101718965_G->A 8 101718965 101718965 G A snp 630.77 0/1 99 132 94 38 0.29 exonic rs62513921 PABPC1 AU nonsynonymous SNV NM_002568 exon11 c.C1516T p.R506C 0.4118 0.4424 0.03 T 1 D -0.833 T 0.97 D 0.711 D Pathogenic 8_101718968_C->T 8 101718968 101718968 C T snp 625.77 0/1 99 136 98 38 0.28 exonic rs62513922 PABPC1 AU nonsynonymous SNV NM_002568 exon11 c.G1513A p.V505I 0.4114 0.4415 0.4 T 1.000 D -0.998 T 0.003 T 0.008 T Pathogenic 8_101718987_G->A 8 101718987 101718987 G A snp 494.77 0/1 99 179 141 38 0.21 exonic rs62513923 PABPC1 AU synonymous SNV NM_002568 exon11 c.C1494T p.A498A 0.3320 0.3668 1 D -0.946 T Likely benign 8_101719004_G->A 8 101719004 101719004 G A snp 467.77 0/1 99 207 170 37 0.18 exonic rs62513924 PABPC1 AU nonsynonymous SNV NM_002568 exon11 c.C1477T p.R493C 0.3078 0.3442 0.03 T 1 D -0.838 T 0.452 T 0.302 P Pathogenic 8_101721692_G->A 8 101721692 101721692 G A snp 527.77 0/1 99 204 169 35 0.17 exonic PABPC1 AU nonsynonymous SNV NM_002568 exon8 c.C1240T p.P414S 0.01 T 1.000 D -0.851 T 0.023 T 0.045 T ID=COSM3367142;OCCURENCE=1(kidney) Pathogenic 8_101721705_G->T 8 101721705 101721705 G T snp 744.77 0/1 99 227 183 44 0.19 exonic rs201017624 PABPC1 AU nonsynonymous SNV NM_002568 exon8 c.C1227A p.F409L 0.257188 0.2649 0.0059 0.0045 0.09 T 1.000 D -0.758 T 0.094 T 0.027 T Pathogenic 8_101721709_T->A 8 101721709 101721709 T A snp 863.77 0/1 99 233 183 50 0.21 exonic rs146200489 PABPC1 AU nonsynonymous SNV NM_002568 exon8 c.A1223T p.Y408F 0.0059 0.0044 0.24 T 1.000 D -1.090 T 0.002 T 0.005 T Pathogenic 8_101721727_G->A 8 101721727 101721727 G A snp 1316.77 0/1 99 250 186 64 0.26 exonic rs139094790 PABPC1 AU nonsynonymous SNV NM_002568 exon8 c.C1205T p.P402L 0.1044 0.1094 0.07 T 1 D -0.245 T 0.003 T 0.003 T Pathogenic 8_101721756_A->C 8 101721756 101721756 A C snp 1689.77 0/1 99 250 163 87 0.35 exonic rs57799615 PABPC1 AU synonymous SNV NM_002568 exon8 c.T1176G p.V392V 0.3684 0.4177 1 D -1.102 T Likely benign 8_101721812_G->A 8 101721812 101721812 G A snp 1546.77 0/1 99 250 166 84 0.34 exonic rs200409148 PABPC1 AU nonsynonymous SNV NM_002568 exon8 c.C1120T p.R374C 0.3862 0.4468 0 D 1 D -1.173 T 0.997 D 0.867 D Pathogenic 8_101721817_T->C 8 101721817 101721817 T C snp 1575.77 0/1 99 250 171 79 0.32 exonic rs201076736 PABPC1 AU nonsynonymous SNV NM_002568 exon8 c.A1115G p.E372G 0.3875 0.4475 0 D 1 D 0.036 D 0.999 D 0.993 D Pathogenic 8_101721839_C->A 8 101721839 101721839 C A snp 1475.77 0/1 99 249 173 76 0.31 exonic rs202074479 PABPC1 AU nonsynonymous SNV NM_002568 exon8 c.G1093T p.V365L 0.3091 0.3854 0 D 1 D -1.125 T 0.968 D 0.913 D Pathogenic 8_101721870_G->A 8 101721870 101721870 G A snp 1160.77 0/1 99 248 182 66 0.27 exonic rs146609644 PABPC1 AU synonymous SNV NM_002568 exon8 c.C1062T p.N354N 0.2175 0.2811 1 D -0.926 T Likely benign 8_101721899_C->A 8 101721899 101721899 C A snp 819.77 0/1 99 234 188 46 0.2 exonic rs142985461 PABPC1 AU stopgain NM_002568 exon8 c.G1033T p.E345X 0.2453 0.3086 0 D 1 A -0.381 T CLINSIG=untested;CLNDBN=Malignant_melanoma;CLNREVSTAT=no_assertion_provided;CLNACC=RCV000068052.2;CLNDSDB=MedGen:SNOMED_CT;CLNDSDBID=C0025202:2092003 Pathogenic 8_101722092_T->C 8 101722092 101722092 T C snp 141.03 1/1 12 4 0 4 1.0 intronic rs1693557 PABPC1 AU NM_002568 exon8 c.5434+133T>C 0.625599 0.5208 Uncertain 8_101937370_A->T 8 101937370 101937370 A T snp 662.77 1/1 48 23 0 23 1.0 intronic rs964919 YWHAZ AU NM_001135701 exon4 c.4347+103A>T 0.995407 1 Uncertain 8_101937374_A->G 8 101937374 101937374 A G snp 656.77 1/1 48 23 0 23 1.0 intronic rs3105460 YWHAZ AU NM_001135701 exon4 c.4347+107A>G 0.685903 0.624 Uncertain 8_101937455_T->C 8 101937455 101937455 T C snp 130.03 1/1 12 4 0 4 1.0 intronic rs964917 YWHAZ AU NM_001135701 exon4 c.4347+188T>C 0.572085 0.625 Uncertain 8_102211656_C->T 8 102211656 102211656 C T snp 77.77 0/1 63 5 2 3 0.6 intronic ZNF706 AU Uncertain 8_102504974_C->G 8 102504974 102504974 C G snp 4265.77 1/1 99 169 0 169 1.0 UTR5 rs515622 GRHL2 AR,AD 0.961262 0.9067 0.998539 0.9743 0.9019 Uncertain 8_102585806_G->A 8 102585806 102585806 G A snp 111.77 0/1 99 9 5 4 0.44 intronic rs548564 GRHL2 AR,AD NM_024915 exon6 c.80898-89G>A 0.540735 0.4375 Uncertain 8_102586173_G->T 8 102586173 102586173 G T snp 40.77 0/1 69 6 4 2 0.33 intronic rs118171235 GRHL2 AR,AD NM_024915 exon6 c.81055+121G>T 0.00978435 0.0446 Uncertain 8_102649225_C->- 8 102649225 102649225 C - indel 4250.73 0/1 99 192 82 110 0.57 intronic rs141732126 GRHL2 AR,AD NM_024915 exon12 c.144159+69delC 0.0111821 0.0516 0.000240 Uncertain 8_102656413_A->G 8 102656413 102656413 A G snp 1689.77 0/1 99 126 64 62 0.49 exonic rs34213258 GRHL2 AR,AD synonymous SNV NM_024915 exon13 c.A1572G p.P524P 0.0363419 0.0585 0.028602 0.0137 0.0614 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000155363.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 8_102676508_A->C 8 102676508 102676508 A C snp 198.77 0/1 58 9 2 7 0.78 intronic rs117824759 GRHL2 AR,AD NM_024915 exon15 c.171684-173A>C 0.0133786 0.0565 Uncertain 8_102704965_C->T 8 102704965 102704965 C T snp 492.77 0/1 99 32 16 16 0.5 intronic rs3735718 NCALD AU NM_001040626 exon2 c.3482-53C>T 0.0587061 0.1349 Uncertain 8_103137693_T->C 8 103137693 103137693 T C snp 671.77 0/1 99 59 27 32 0.54 ncRNA_exonic rs487571 MIR5680 AU 0.600439 0.623 1 . Uncertain 8_103220351_A->G 8 103220351 103220351 A G snp 1603.77 1/1 99 65 0 65 1.0 UTR3 rs1265117 RRM2B AR,AD 1 1 0.999923 0.9999 0.9992 Uncertain 8_103372743_G->A 8 103372743 103372743 G A snp 443.77 1/1 33 15 0 15 1.0 intronic rs6468823 UBR5 AU NM_001282873 exon56 c.106287-73G>A 0.999201 0.996 Uncertain 8_103424549_C->G 8 103424549 103424549 C G snp 472.77 0/1 99 26 11 15 0.58 UTR5 UBR5 AU Uncertain 8_103540991_T->A 8 103540991 103540991 T A snp 225.77 0/1 99 21 11 10 0.48 intergenic rs74395753 UBR5 AU 0.0111821 0.0546 Uncertain 8_103563907_G->T 8 103563907 103563907 G T snp 674.77 0/1 99 55 26 29 0.53 UTR5 rs3808357 ODF1 AU 0.417931 0.375 0.392511 0.3807 0.3607 Uncertain 8_103572551_T->G 8 103572551 103572551 T G snp 1236.77 1/1 93 32 0 32 1.0 intronic rs57773710 ODF1 AU NM_024410 exon2 c.8724-128T>G 0.459665 0.4851 Uncertain 8_103572992_C->G 8 103572992 103572992 C G snp 7574.77 1/1 99 249 1 248 1.0 exonic rs3018444 ODF1 AU synonymous SNV NM_024410 exon2 c.C633G p.P211P 0.786342 0.6399 0.820237 0.8603 0.6528 Uncertain 8_103573001_C->G 8 103573001 103573001 C G snp 3947.77 0/1 99 248 107 141 0.57 exonic rs3018445 ODF1 AU synonymous SNV NM_024410 exon2 c.C642G p.P214P 0.490615 0.3056 0.575888 0.6401 0.3680 Uncertain 8_103573006_G->A 8 103573006 103573006 G A snp 3786.77 0/1 99 249 106 143 0.57 exonic rs2916569 ODF1 AU nonsynonymous SNV NM_024410 exon2 c.G647A p.S216N 0.542332 0.3165 0.6547 0.3732 1 T 0.0 P -0.979 T 0.0 T 0.0 T Pathogenic 8_103573011_TGCAACCCCTGCAGCCCCTGCAACCCG->- 8 103573011 103573037 TGCAACCCCTGCAGCCCCTGCAACCCG - indel 20806.7 0/1 99 250 143 107 0.43 exonic rs568456031 ODF1 AU nonframeshift deletion NM_024410 exon2 c.652_678del p.218_226del 0.312899 0.3244 0.2958 0.3400 ID=COSM330203;OCCURENCE=1(haematopoietic_and_lymphoid_tissue),3(breast) Uncertain 8_103662219_G->A 8 103662219 103662219 G A snp 96.28 1/1 9 4 0 4 1.0 UTR3 rs3191333 KLF10 AU 0.267572 0.1687 Uncertain 8_103663912_T->G 8 103663912 103663912 T G snp 2858.77 0/1 99 202 92 110 0.54 exonic rs11552577 KLF10 AU synonymous SNV NM_005655 exon3 c.A648C p.T216T 0.135383 0.1458 0.131632 0.1858 0.1767 Uncertain 8_103819681_G->A 8 103819681 103819681 G A snp 1049.77 0/1 99 104 61 43 0.41 intergenic rs10108226 KLF10 AU 0.133986 0.2292 Uncertain 8_103841861_G->A 8 103841861 103841861 G A snp 123.78 0/1 27 5 1 4 0.8 intronic rs2304346 AZIN1 AU NM_148174 exon2 c.920+147G>A 0.461661 0.4266 Uncertain 8_103845372_G->A 8 103845372 103845372 G A snp 1514.77 0/1 99 153 84 69 0.45 exonic rs2304347 AZIN1 AU synonymous SNV NM_015878 exon10 c.C816T p.P272P 0.0515176 0.2103 0.004383 0.0231 0.2015 Uncertain 8_104053283_G->T 8 104053283 104053283 G T snp 1428.77 0/1 99 94 38 56 0.6 intronic rs1512351 ATP6V1C1 AU NM_001695 exon2 c.132+87G>T 0.0579073 0.0417 Uncertain 8_104054526_A->T 8 104054526 104054526 A T snp 1111.77 1/1 81 37 1 36 0.97 intronic rs3779908 ATP6V1C1 AU NM_001695 exon3 c.1503-41A>T 0.13099 0.1706 0.1563 0.1568 Uncertain 8_104076924_T->- 8 104076924 104076924 T - indel 1218.73 0/1 99 98 52 46 0.47 intronic rs151079473 ATP6V1C1 AU NM_001695 exon11 c.23877-17delT 0.0648962 0.0774 0.0958 0.0780 Uncertain 8_104078514_T->C 8 104078514 104078514 T C snp 868.77 0/1 99 78 41 37 0.47 intronic rs16870018 ATP6V1C1 AU NM_001695 exon12 c.25484-34T>C 0.0583067 0.121 0.062279 0.0747 0.1213 Uncertain 8_104081085_G->C 8 104081085 104081085 G C snp 3442.77 1/1 99 110 0 110 1.0 UTR3 rs9992 ATP6V1C1 AU 0.75619 0.5337 Uncertain 8_104153028_C->A 8 104153028 104153028 C A snp 247.77 0/1 99 18 10 8 0.44 ncRNA_intronic rs62527606 BAALC-AS2 AU 0.0321486 0.0228 Uncertain 8_104153137_C->T 8 104153137 104153137 C T snp 1109.77 0/1 99 109 55 54 0.5 exonic rs3736043 BAALC AU synonymous SNV NM_024812 exon1 c.C12T p.G4G 0.0317492 0.0238 0.079590 0.1171 0.0900 Uncertain 8_104166746_C->T 8 104166746 104166746 C T snp 667.77 1/1 51 19 0 19 1.0 intronic rs57787067 BAALC AU NM_024812 exon1 c.160+13461C>T 0.392173 0.4315 Uncertain 8_104166902_-->C 8 104166902 104166902 - C indel 2681.73 1/1 99 73 0 73 1.0 ncRNA_exonic rs35605502 MIR3151 AU 1 1 0.9994 1 Uncertain 8_104210367_A->G 8 104210367 104210367 A G snp 928.77 0/1 99 98 53 45 0.46 intronic rs62528474 BAALC AU NM_024812 exon2 c.72021-14779A>G 0.0283546 0.0079 0.0456 0.0153 Uncertain 8_104312341_A->G 8 104312341 104312341 A G snp 1218.77 0/1 99 111 61 50 0.45 exonic rs3736047 FZD6 AR synonymous SNV NM_003506 exon2 c.A6G p.E2E 0.457668 0.6379 0.418884 0.4651 0.6261 Uncertain 8_104319948_T->- 8 104319948 104319948 T - indel 210.73 0/1 99 17 6 11 0.65 intronic rs11312808 FZD6 AR NM_001164615 exon2 c.177+7436delT 0.458466 0.6319 0.4096 0.5083 Uncertain 8_104331088_G->C 8 104331088 104331088 G C snp 475.77 1/1 36 14 0 14 1.0 intronic rs3104026 FZD6 AR NM_001164615 exon3 c.18679+74G>C 0.791334 0.9871 Uncertain 8_104336672_G->A 8 104336672 104336672 G A snp 44.77 0/1 36 4 2 2 0.5 intronic rs827550 FZD6 AR NM_001164615 exon4 c.24373-36G>A 0.513578 0.3621 0.408376 0.5164 0.3569 Uncertain 8_104337096_A->G 8 104337096 104337096 A G snp 2994.77 0/1 99 250 124 126 0.5 exonic rs3808554 FZD6 AR synonymous SNV NM_003506 exon4 c.A762G p.L254L 0.449081 0.6379 0.411349 0.4620 0.6256 Uncertain 8_104337367_A->C 8 104337367 104337367 A C snp 3315.77 0/1 99 249 127 122 0.49 exonic rs3808553 FZD6 AR nonsynonymous SNV NM_003506 exon4 c.A1033C p.M345L 0.448083 0.6379 0.411425 0.4625 0.6262 0.53 T 0.990 P -0.969 T 0.05 T 0.023 T Pathogenic 8_104340719_T->C 8 104340719 104340719 T C snp 826.77 0/1 99 56 24 32 0.57 intronic rs2270525 FZD6 AR NM_001164615 exon5 c.28309+75T>C 0.138578 0.1944 Uncertain 8_104343686_G->A 8 104343686 104343686 G A snp 1328.77 0/1 99 119 60 59 0.5 exonic rs1053917 FZD6 AR synonymous SNV NM_003506 exon7 c.G2070A p.P690P 0.437899 0.627 0.406197 0.4570 0.6114 Uncertain 8_104343822_A->G 8 104343822 104343822 A G snp 980.77 1/1 72 29 0 29 1.0 UTR3 rs2934725 FZD6 AR 0.976837 1 Uncertain 8_104384780_A->G 8 104384780 104384780 A G snp 654.77 0/1 99 58 32 26 0.45 intronic rs6995597 CTHRC1 AU NM_001256099 exon1 c.108-107A>G 0.091254 0.1121 0.069585 0.0653 0.1176 0 D 0.000 P -1.050 T Uncertain 8_104390224_T->A 8 104390224 104390224 T A snp 1045.77 0/1 99 72 30 42 0.58 intronic rs2687364 CTHRC1 AU NM_001256099 exon3 c.5475-30T>A 0.522165 0.6409 0.483854 0.5460 0.6467 Uncertain 8_104394744_T->C 8 104394744 104394744 T C snp 1205.77 0/1 99 160 103 57 0.36 exonic rs3098233 CTHRC1 AU synonymous SNV NM_138455 exon4 c.T648C p.G216G 0.744609 0.6677 0.783023 0.7645 0.6683 Uncertain 8_104412935_C->T 8 104412935 104412935 C T snp 774.77 0/1 99 49 20 29 0.59 intronic rs2241778 SLC25A32 AR NM_030780 exon1 c.136+161C>T 0.428514 0.3442 Uncertain 8_104420100_T->C 8 104420100 104420100 T C snp 373.77 0/1 99 24 9 15 0.63 intronic rs3134254 SLC25A32 AR NM_030780 exon6 c.7374+88T>C 0.22484 0.3323 Uncertain 8_104426906_AC->- 8 104426906 104426907 AC - indel 180.73 0/1 99 24 16 8 0.33 intronic rs139201908 SLC25A32 AR NM_030780 exon7 c.14373-105_14373-104delAC Uncertain 8_104426908_G->C 8 104426908 104426908 G C snp 207.77 0/1 99 26 18 8 0.31 intronic rs5893653 SLC25A32 AR NM_030780 exon7 c.14373-103G>C Uncertain 8_104426910_T->C 8 104426910 104426910 T C snp 226.77 0/1 99 27 18 9 0.33 intronic rs114156661 SLC25A32 AR NM_030780 exon7 c.14373-101T>C 0.428115 0.3462 Uncertain 8_104427359_A->C 8 104427359 104427359 A C snp 3407.77 0/1 99 250 115 135 0.54 exonic rs3134295 DCAF13 AU nonsynonymous SNV NM_015420 exon1 c.A141C p.R47S 0.428315 0.3462 0.462171 0.4406 0.3425 1 T 0.000 P -0.982 T ID=CM109930;DIS=Total body bone mineral density, association;TAG=DP;PUB=20601284 DP Pathogenic 8_104427541_C->T 8 104427541 104427541 C T snp 3228.29 0/1 99 250 119 131 0.52 exonic rs3134296 DCAF13 AU nonsynonymous SNV NM_015420 exon1 c.C323T p.P108L 0.222045 0.3323 0.142428 0.1846 0.3256 0.35 T 0.000 P -1.097 T ID=CM109931;DIS=Total body bone mineral density, association;TAG=DP;PUB=20601284 DP Pathogenic 8_104427578_T->C 8 104427578 104427578 T C snp 3266.77 0/1 99 250 114 136 0.54 exonic rs3134297 DCAF13 AU synonymous SNV NM_015420 exon1 c.T360C p.S120S 0.253594 0.3333 0.212252 0.2357 0.3320 Uncertain 8_104432545_A->G 8 104432545 104432545 A G snp 2233.77 0/1 99 190 93 97 0.51 exonic rs3134253 DCAF13 AU nonsynonymous SNV NM_015420 exon2 c.A580G p.I194V 0.253395 0.3313 0.214824 0.2350 0.3319 0.67 T 0.0 P -1.025 T 0.0 T 0.0 T ID=CM109932;DIS=Total body bone mineral density, association;TAG=DP;PUB=20601284 DP Pathogenic 8_104445009_T->G 8 104445009 104445009 T G snp 674.77 0/1 99 52 19 33 0.63 intronic rs1370005 DCAF13 AU NM_015420 exon7 c.17751+40T>G 0.254193 0.3333 0.214066 0.2373 0.3341 Uncertain 8_104452554_-->TAT 8 104452554 104452554 - TAT indel 385.73 0/1 99 36 23 13 0.36 intronic rs113367023 DCAF13 AU NM_015420 exon9 c.25281+55insTAT 0.428514 0.3462 Uncertain 8_104454794_A->C 8 104454794 104454794 A C snp 34.77 0/1 33 3 1 2 0.67 intronic rs3098214 DCAF13 AU NM_015420 exon11 c.27804-228A>C 0.428315 0.3462 Uncertain 8_104709594_A->G 8 104709594 104709594 A G snp 1059.77 1/1 78 30 0 30 1.0 intronic rs1176674 RIMS2 AU NM_001100117 exon2 c.196410+70A>G 0.489018 0.7589 Uncertain 8_105261120_TCTC->- 8 105261120 105261123 TCTC - indel 246.73 0/1 99 17 5 12 0.71 intronic RIMS2 AU NM_001282882 exon3 c.25162+79_25162+82delTCTC Uncertain 8_105261725_G->A 8 105261725 105261725 G A snp 1262.77 0/1 99 113 61 52 0.46 exonic rs2028945 RIMS2 AU synonymous SNV NM_001282882 exon4 c.G408A p.Q136Q 0.236022 0.5357 0.081429 0.1459 0.4989 Uncertain 8_105263751_T->A 8 105263751 105263751 T A snp 250.8 1/1 21 8 0 8 1.0 intronic rs2252152 RIMS2 AU NM_001282882 exon6 c.27950-78T>A 0.606629 0.6806 Uncertain 8_105263979_C->T 8 105263979 105263979 C T snp 3236.77 1/1 99 124 0 124 1.0 exonic rs10461 RIMS2 AU synonymous SNV NM_001282882 exon6 c.C789T p.A263A 0.478035 0.6498 0.395655 0.3996 0.6143 Uncertain 8_105361095_C->T 8 105361095 105361095 C T snp 2833.77 0/1 99 249 133 116 0.47 exonic rs3088027 DCSTAMP AU synonymous SNV NM_030788 exon2 c.C315T p.I105I 0.116014 0.131 0.114409 0.1297 0.1238 Uncertain 8_105361354_G->C 8 105361354 105361354 G C snp 2254.77 0/1 99 186 92 94 0.51 exonic rs67114147 DCSTAMP AU nonsynonymous SNV NM_030788 exon2 c.G574C p.E192Q 0.116414 0.1319 0.114255 0.1301 0.1266 0.000 P -0.986 T 0.051 T 0.016 T Pathogenic 8_105367096_T->C 8 105367096 105367096 T C snp 509.77 0/1 99 39 21 18 0.46 intronic rs2458431 DCSTAMP AU NM_030788 exon3 c.6324-8T>C 0.594649 0.5536 0.616195 0.6841 0.5877 Uncertain 8_105367121_A->G 8 105367121 105367121 A G snp 823.77 0/1 99 66 37 29 0.44 exonic rs3802204 DCSTAMP AU nonsynonymous SNV NM_030788 exon3 c.A1046G p.D349G 0.118411 0.1319 0.117023 0.1340 0.1278 0.34 T 0.0 P -0.990 T 0.0 T 0.003 T Pathogenic 8_105393687_G->A 8 105393687 105393687 G A snp 587.77 1/1 45 16 0 16 1.0 intronic rs2253336 DPYS AR NM_001385 exon2 c.117+145G>A 0.670927 0.6954 Uncertain 8_105440462_A->G 8 105440462 105440462 A G snp 334.77 0/1 99 19 9 10 0.53 intronic rs2246815 DPYS AR NM_001385 exon5 c.46924+113A>G 0.568091 0.6032 Uncertain 8_105459614_G->A 8 105459614 105459614 G A snp 2611.77 0/1 99 215 106 109 0.51 exonic rs36027551 DPYS AR nonsynonymous SNV NM_001385 exon3 c.C541T p.R181W 0.0253594 0.0446 0.013148 0.0087 0.0559 0.15 T 1 N -0.393 T 0.024 T 0.007 T CLINSIG=untested;CLNDBN=not_provided;CLNREVSTAT=no_assertion_provided;CLNACC=RCV000086525.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Pathogenic 8_105459793_C->A 8 105459793 105459793 C A snp 155.77 0/1 99 22 15 7 0.32 intronic rs7821992 DPYS AR NM_001385 exon8 c.66306+62C>A 0.597843 0.6081 CLINSIG=untested;CLNDBN=not_provided;CLNREVSTAT=no_assertion_provided;CLNACC=RCV000086526.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Uncertain 8_105463690_A->G 8 105463690 105463690 A G snp 1227.77 1/1 87 43 0 43 1.0 intronic rs2669429 DPYS AR NM_001385 exon9 c.70207+58A>G 0.376398 0.3562 CLINSIG=untested;CLNDBN=not_provided;CLNREVSTAT=no_assertion_provided;CLNACC=RCV000086527.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Uncertain 8_106331094_-->GCGGCGGGA 8 106331094 106331094 - GCGGCGGGA indel 1979.73 1/1 69 23 0 23 1.0 upstream rs71305140 ZFPM2 AU,AD Uncertain 8_106431029_A->G 8 106431029 106431029 A G snp 614.77 0/1 99 54 30 24 0.44 intronic rs11783971 ZFPM2 AU,AD NM_012082 exon2 c.100202-342A>G 0.444688 0.3056 0.388753 0.4235 0.3562 Uncertain 8_106573578_C->T 8 106573578 106573578 C T snp 1289.77 0/1 99 95 40 55 0.58 intronic rs3735953 ZFPM2 AU,AD NM_012082 exon4 c.242421-12C>T 0.720248 0.6151 0.682694 0.6367 0.6121 Uncertain 8_107277717_G->A 8 107277717 107277717 G A snp 118.77 0/1 99 20 14 6 0.3 intergenic rs2938306 ZFPM2-AS1 AU 0.352636 0.1637 Uncertain 8_107371924_C->A 8 107371924 107371924 C A snp 4108.77 1/1 99 134 0 134 1.0 intronic rs2022982 OXR1 AU NM_001198533 exon2 c.23+60C>A 0.599042 0.4087 0.609943 Uncertain 8_107670090_T->G 8 107670090 107670090 T G snp 168.77 0/1 89 9 3 6 0.67 UTR5 rs28921372 OXR1 AU 0.205471 0.3343 Uncertain 8_107691271_C->T 8 107691271 107691271 C T snp 113.77 0/1 99 9 5 4 0.44 intronic rs28921395 OXR1 AU NM_001198532 exon3 c.231187-166C>T 0.16254 0.3294 Uncertain 8_107751967_TTAA->- 8 107751967 107751970 TTAA - indel 708.73 0/1 99 32 13 19 0.59 intronic rs34123736 OXR1 AU NM_001198534 exon3 c.13340+156_13340+159delTTAA 0.16274 0.3294 Uncertain 8_107754473_G->A 8 107754473 107754473 G A snp 2380.77 0/1 99 201 95 106 0.53 exonic rs1681904 OXR1 AU synonymous SNV NM_001198535 exon4 c.G369A p.E123E 0.381589 0.3492 0.368907 0.4376 0.3531 1.0 P -0.866 T Likely benign 8_107754583_T->G 8 107754583 107754583 T G snp 3255.77 1/1 99 121 0 121 1.0 intronic rs1784468 OXR1 AU NM_001198534 exon5 c.16074+38T>G 0.910942 0.9534 0.856835 0.8581 0.9571 Uncertain 8_107782065_A->G 8 107782065 107782065 A G snp 2562.77 0/1 99 241 134 107 0.44 exonic rs13259080 ABRA AU synonymous SNV NM_139166 exon1 c.T354C p.Y118Y 0.185703 0.3581 0.126788 0.1720 0.3582 Uncertain 8_107782395_G->A 8 107782395 107782395 G A snp 956.77 0/1 99 88 46 42 0.48 exonic rs11996466 ABRA AU synonymous SNV NM_139166 exon1 c.C24T p.S8S 0.440895 0.5188 0.409692 0.3728 0.5172 Uncertain 8_108315277_T->G 8 108315277 108315277 T G snp 99.28 1/1 9 3 0 3 1.0 intronic rs4472483 ANGPT1 AU NM_001146 exon5 c.51385-190T>G 0.596246 0.4792 Uncertain 8_109009081_T->C 8 109009081 109009081 T C snp 2667.77 1/1 99 79 0 79 1.0 intronic rs1369068 RSPO2 AU NM_178565 exon4 c.88170+7609T>C 0.63099 0.3522 Uncertain 8_109094747_C->T 8 109094747 109094747 C T snp 1247.77 0/1 99 98 47 51 0.52 intronic rs10955475 RSPO2 AU NM_178565 exon5 c.181470-25C>T 0.195088 0.38 0.157543 0.2121 0.4182 Uncertain 8_109215368_T->C 8 109215368 109215368 T C snp 1753.77 0/1 99 147 71 76 0.52 intronic rs630492 EIF3E AU NM_001568 exon2 c.1233+22T>C 0.494409 0.496 0.484853 0.4829 0.5111 Uncertain 8_109215442_GCACTGTATAGAGATGACAATA->- 8 109215442 109215463 GCACTGTATAGAGATGACAATA - indel 6677.73 0/1 99 73 33 40 0.55 intronic rs72205512 EIF3E AU NM_001568 exon2 c.1233+96_1233+117delGCACTGTATAGAGATGACAATA 0.200679 0.3839 Uncertain 8_109245991_G->A 8 109245991 109245991 G A snp 166.77 0/1 63 10 2 8 0.8 intronic rs612744 EIF3E AU NM_001568 exon9 c.33113-1235G>A 0.551518 0.497 Uncertain 8_109246032_C->A 8 109246032 109246032 C A snp 124.77 0/1 66 9 2 7 0.78 intronic rs587340 EIF3E AU NM_001568 exon9 c.33113-1194C>A 0.551318 0.497 Uncertain 8_109252471_C->T 8 109252471 109252471 C T snp 125.78 0/1 25 5 1 4 0.8 intronic rs16877534 EIF3E AU NM_001568 exon11 c.38191+167C>T 0.199281 0.371 Uncertain 8_109254262_C->T 8 109254262 109254262 C T snp 155.77 0/1 99 9 3 6 0.67 intronic rs615233 EIF3E AU NM_001568 exon12 c.40029+120C>T 0.576478 0.497 Uncertain 8_109254677_C->T 8 109254677 109254677 C T snp 1068.77 0/1 99 71 34 37 0.52 intronic rs627392 EIF3E AU NM_001568 exon12 c.40029+535C>T 0.576478 0.497 Uncertain 8_109260776_A->G 8 109260776 109260776 A G snp 3021.77 0/1 99 250 127 123 0.49 intronic rs4735053 EIF3E AU NM_001568 exon13 c.46728-65A>G 0.551118 0.497 Uncertain 8_109455672_T->A 8 109455672 109455672 T A snp 74.77 0/1 99 8 5 3 0.38 upstream rs3737500 EMC2 AU 0.692093 0.5536 Uncertain 8_109455802_G->A 8 109455802 109455802 G A snp 1042.77 0/1 99 97 53 44 0.45 upstream rs3737501 EMC2 AU 0.517372 0.506 Uncertain 8_109455863_C->T 8 109455863 109455863 C T snp 1518.77 0/1 99 138 68 70 0.51 UTR5 rs3737502 EMC2 AU 0.252995 0.3839 0.224358 0.3224 0.4859 Uncertain 8_109462791_A->G 8 109462791 109462791 A G snp 572.77 0/1 99 39 16 23 0.59 intronic rs4540386 EMC2 AU NM_014673 exon3 c.6834+70A>G 0.696286 0.5526 0.681420 Uncertain 8_109488937_A->G 8 109488937 109488937 A G snp 462.77 0/1 99 35 14 21 0.6 intronic rs1871685 EMC2 AU NM_014673 exon9 c.33123-73A>G 0.696486 0.5526 Uncertain 8_109491399_A->T 8 109491399 109491399 A T snp 121.77 0/1 99 14 7 7 0.5 intronic rs2252767 EMC2 AU NM_014673 exon10 c.35452+60A>T 0.696685 0.5526 Uncertain 8_109498656_T->G 8 109498656 109498656 T G snp 168.77 0/1 99 13 7 6 0.46 intronic rs10111934 EMC2 AU NM_014673 exon11 c.42853-84T>G 0.696486 0.5526 Uncertain 8_110396415_T->C 8 110396415 110396415 T C snp 844.77 0/1 99 54 21 33 0.61 intronic rs573135851 PKHD1L1 AU NM_177531 exon5 c.21547+59T>C 0.00119808 0.006 Uncertain 8_110620037_-->CACACA 8 110620037 110620037 - CACACA indel 749.84 1/1 16 12 1 11 0.92 intronic SYBU AU NM_001099749 exon5 c.43936-11033insCACACA Uncertain 8_110657514_G->A 8 110657514 110657514 G A snp 4770.77 1/1 99 176 0 176 1.0 splicing rs3108849 SYBU AU NM_001099752 exon8 c.70383-3G>A 0.980232 1 0.9628 1 0 D 0.000 P -1.042 T 0.0 T 0.0 T Pathogenic 8_113241088_T->G 8 113241088 113241088 T G snp 426.77 0/1 99 38 18 20 0.53 exonic rs1592624 CSMD3 AU nonsynonymous SNV NM_198123 exon70 c.A10861C p.N3621H 0.71226 0.7619 0.667769 0.6148 0.7600 0.17 T 0.960 P -1.109 T 0.994 D 0.879 D Pathogenic 8_113254072_CGCA->- 8 113254072 113254075 CGCA - indel 1496.73 0/1 99 57 21 36 0.63 intronic rs150177556 CSMD3 AU NM_052900 exon6 c.17015+58_17015+61delCGCA Uncertain 8_113259132_A->T 8 113259132 113259132 A T snp 188.77 0/1 54 8 2 6 0.75 intronic rs1895014 CSMD3 AU NM_052900 exon8 c.22249-116A>T 0.707867 0.7619 Uncertain 8_113266343_C->T 8 113266343 113266343 C T snp 556.77 0/1 99 46 26 20 0.43 intronic rs7830950 CSMD3 AU NM_052900 exon9 c.29482-138C>T 0.709065 0.7619 Uncertain 8_113267771_T->C 8 113267771 113267771 T C snp 222.77 0/1 99 18 11 7 0.39 intronic rs1861753 CSMD3 AU NM_052900 exon10 c.30657+115T>C 0.281749 0.3462 Uncertain 8_113277909_A->G 8 113277909 113277909 A G snp 435.77 0/1 99 33 18 15 0.45 intronic CSMD3 AU NM_052900 exon12 c.40820+90A>G Uncertain 8_113301548_A->G 8 113301548 113301548 A G snp 315.77 0/1 99 32 20 12 0.38 intronic rs1861755 CSMD3 AU NM_052900 exon15 c.64594-45A>G 0.237819 0.3462 0.175177 0.2483 0.3537 Uncertain 8_113308243_A->G 8 113308243 113308243 A G snp 265.77 0/1 99 21 9 12 0.57 intronic rs4876462 CSMD3 AU NM_052900 exon18 c.71236+8A>G 0.408746 0.4435 0.417269 0.4625 0.4559 Uncertain 8_113363350_T->C 8 113363350 113363350 T C snp 266.77 0/1 99 19 9 10 0.53 intronic rs7003308 CSMD3 AU NM_052900 exon31 c.126404-53T>C 0.372404 0.4782 0.337951 Uncertain 8_113363511_T->C 8 113363511 113363511 T C snp 536.77 0/1 99 36 15 21 0.58 intronic rs7003500 CSMD3 AU NM_052900 exon31 c.126474+38T>C 0.372204 0.4782 0.373268 0.4474 0.4873 Uncertain 8_113364574_T->C 8 113364574 113364574 T C snp 335.77 0/1 99 34 20 14 0.41 intronic rs11775013 CSMD3 AU NM_052900 exon32 c.127645-70T>C 0.248602 0.3938 Uncertain 8_113364696_A->G 8 113364696 113364696 A G snp 907.77 0/1 99 83 41 42 0.51 exonic rs11778209 CSMD3 AU synonymous SNV NM_198123 exon39 c.T6204C p.Y2068Y 0.2502 0.3938 0.176023 0.2513 0.3952 Uncertain 8_113396054_A->T 8 113396054 113396054 A T snp 340.77 0/1 99 27 15 12 0.44 intronic rs16883506 CSMD3 AU NM_052900 exon34 c.158893+162A>T 0.246805 0.3839 Uncertain 8_113418685_T->C 8 113418685 113418685 T C snp 132.77 0/1 99 15 9 6 0.4 intronic rs143404054 CSMD3 AU NM_052900 exon36 c.181753-67T>C 0.0105831 Uncertain 8_113420496_G->- 8 113420496 113420496 G - indel 4919.73 1/1 99 123 0 123 1.0 intronic rs35988509 CSMD3 AU NM_052900 exon37 c.183547-50delG 1 1 Uncertain 8_113485014_A->C 8 113485014 113485014 A C snp 832.77 0/1 99 39 11 28 0.72 intronic rs11783041 CSMD3 AU NM_052900 exon39 c.247937+78A>C 0.271765 0.3671 Uncertain 8_113516209_G->A 8 113516209 113516209 G A snp 445.77 0/1 99 35 16 19 0.54 splicing rs10955625 CSMD3 AU NM_052900 exon41 c.279207+3G>A 0.64976 0.5982 0.6043 0.5854 Pathogenic 8_113585637_A->G 8 113585637 113585637 A G snp 1278.77 1/1 93 42 0 42 1.0 intronic rs7014796 CSMD3 AU NM_052900 exon47 c.348730-92A>G 0.404952 0.5585 Uncertain 8_113655596_A->G 8 113655596 113655596 A G snp 1387.77 1/1 99 49 0 49 1.0 intronic rs10505169 CSMD3 AU NM_052900 exon51 c.420338-1741A>G 0.364417 0.4395 Uncertain 8_113655643_-->C 8 113655643 113655643 - C indel 2885.73 1/1 99 77 0 77 1.0 intronic rs112584207 CSMD3 AU NM_052900 exon51 c.420338-1694insC 0.560304 0.5288 Uncertain 8_113655644_A->T 8 113655644 113655644 A T snp 1993.77 1/1 99 74 0 74 1.0 intronic rs55980973 CSMD3 AU NM_052900 exon51 c.420338-1693A>T 0.560304 0.5288 Uncertain 8_113655752_T->C 8 113655752 113655752 T C snp 1328.77 1/1 96 48 0 48 1.0 ncRNA_exonic rs10505168 MIR2053 AU 0.386781 0.4395 0.340999 0.3426 0.4465 Uncertain 8_113662299_T->G 8 113662299 113662299 T G snp 303.78 1/1 24 9 0 9 1.0 intronic rs6992564 CSMD3 AU NM_052900 exon52 c.425390-90T>G 0.561901 0.5308 Uncertain 8_113697567_A->G 8 113697567 113697567 A G snp 86.28 1/1 9 3 0 3 1.0 intronic rs7839990 CSMD3 AU NM_052900 exon56 c.460635-67A>G 0.559105 0.5407 Uncertain 8_113842039_G->A 8 113842039 113842039 G A snp 3245.77 1/1 99 115 0 115 1.0 intronic rs10106945 CSMD3 AU NM_052900 exon59 c.605019+21G>A 0.869808 0.9147 0.814009 0.8150 0.9025 Uncertain 8_114111250_G->T 8 114111250 114111250 G T snp 2245.77 1/1 99 70 0 70 1.0 intronic rs2030506 CSMD3 AU NM_052900 exon65 c.874193+58G>T 0.78774 0.9504 Uncertain 8_114186003_T->C 8 114186003 114186003 T C snp 4729.77 1/1 99 179 2 177 0.99 exonic rs2219898 CSMD3 AU nonsynonymous SNV NM_198123 exon4 c.A657G p.I219M 0.466054 0.6766 0.312471 0.3670 0.6864 0.19 T 0.002 P -1.012 T 0.947 T 0.691 D Pathogenic 8_114388945_G->A 8 114388945 114388945 G A snp 2450.77 1/1 99 96 1 95 0.99 intronic rs17609383 CSMD3 AU NM_198124 exon71 c.1151967-21G>A 0.392372 0.63 0.229817 0.3121 0.6283 Uncertain 8_114448786_-->CTT 8 114448786 114448786 - CTT indel 321.73 0/1 99 19 12 7 0.37 intronic rs10682578 CSMD3 AU NM_052900 exon69 c.1211906-119insCTT 0.526957 0.4812 Uncertain 8_114449161_C->T 8 114449161 114449161 C T snp 38.77 0/1 67 5 3 2 0.4 UTR5 rs117143184 CSMD3 AU 0.028754 0.1081 Uncertain 8_114612543_A->C 8 114612543 114612543 A C snp 5138.77 1/1 99 194 0 194 1.0 intergenic rs4242557 CSMD3 AU 0.520168 0.7173 Uncertain 8_116504323_A->T 8 116504323 116504323 A T snp 984.77 0/1 99 74 36 38 0.51 intronic rs800883 TRPS1 AD NM_014112 exon2 c.4430+73643A>T 0.226837 0.1587 Uncertain 8_116599199_T->G 8 116599199 116599199 T G snp 677.77 0/1 99 44 19 25 0.57 intronic rs2293889 TRPS1 AD NM_014112 exon3 c.172977-28T>G 0.771366 0.8264 0.670399 0.6503 0.8369 Uncertain 8_116635688_G->A 8 116635688 116635688 G A snp 245.77 0/1 99 27 17 10 0.37 intronic rs2737219 TRPS1 AD NM_014112 exon6 c.209577-139G>A 0.604633 0.8571 Uncertain 8_116635872_-->A 8 116635872 116635872 - A indel 1404.73 0/1 99 68 27 41 0.6 UTR5 rs35329862 TRPS1 AD 0.299613 0.3752 0.5024 Uncertain 8_116635942_C->T 8 116635942 116635942 C T snp 650.77 0/1 99 39 15 24 0.62 UTR5 rs2721939 TRPS1 AD 0.686701 0.8571 Uncertain 8_117669343_C->T 8 117669343 117669343 C T snp 1568.77 0/1 99 126 60 66 0.52 intronic rs77386399 EIF3H AU NM_003756 exon5 c.12209-110C>T 0.0752796 0.1498 Uncertain 8_117709575_G->A 8 117709575 117709575 G A snp 143.77 0/1 99 11 6 5 0.45 intronic rs12541272 EIF3H AU NM_003756 exon7 c.81010-28679G>A 0.121805 0.1458 Uncertain 8_117749358_T->A 8 117749358 117749358 T A snp 385.77 0/1 99 26 10 16 0.62 intronic rs77803704 EIF3H AU NM_003756 exon7 c.81167+10947T>A 0.129792 0.1567 Uncertain 8_117749536_A->- 8 117749536 117749536 A - indel 430.73 0/1 99 48 20 28 0.58 intronic rs11284390 EIF3H AU NM_003756 exon7 c.81167+11125delA 0.269369 0.1736 0.2716 0.1557 Uncertain 8_117778673_G->A 8 117778673 117778673 G A snp 274.77 0/1 99 24 15 9 0.38 upstream rs10283129 UTP23 AU 0.665935 0.2778 Uncertain 8_117782385_C->T 8 117782385 117782385 C T snp 689.77 0/1 99 38 15 23 0.61 intronic rs4514005 UTP23 AU NM_032334 exon2 c.3588-45C>T 0.679513 0.2778 0.781101 0.7181 0.2577 Uncertain 8_117791733_T->C 8 117791733 117791733 T C snp 5238.77 1/1 99 191 0 191 1.0 intergenic rs979866 UTP23 AU 0.807109 0.9871 0.8478 1 Uncertain 8_117799012_A->G 8 117799012 117799012 A G snp 180.9 1/1 15 5 0 5 1.0 intergenic rs1867840 UTP23 AU 0.798722 0.9871 Uncertain 8_117864757_T->C 8 117864757 117864757 T C snp 669.77 0/1 99 79 49 30 0.38 intronic RAD21 AD NM_006265 exon5 c.5049-30T>C Uncertain 8_117887122_C->- 8 117887122 117887122 C - indel 3528.73 0/1 99 243 103 140 0.58 ncRNA_exonic rs28365847 RAD21-AS1 AU 0.460463 0.7183 0.3302 0.5459 Uncertain 8_117887608_C->T 8 117887608 117887608 C T snp 211.77 0/1 99 32 22 10 0.31 ncRNA_intronic rs10094918 RAD21-AS1 AU 0.22484 0.1359 Uncertain 8_117955005_C->T 8 117955005 117955005 C T snp 382.77 0/1 99 37 21 16 0.43 UTR3 rs4629901 AARD AU 0.216853 0.3155 Uncertain 8_118165149_A->G 8 118165149 118165149 A G snp 1115.77 0/1 99 127 73 54 0.43 intronic rs6469675 SLC30A8 AD NM_173851 exon3 c.17616-33A>G 0.419529 0.3383 0.404583 0.3101 0.3747 Uncertain 8_118185041_C->T 8 118185041 118185041 C T snp 519.77 0/1 99 40 19 21 0.53 UTR3 rs2466295 SLC30A8 AD 0.559105 0.8175 Uncertain 8_118185063_C->G 8 118185063 118185063 C G snp 403.77 0/1 99 19 6 13 0.68 UTR3 rs2466294 SLC30A8 AD 0.51857 0.8175 Uncertain 8_118819578_C->T 8 118819578 118819578 C T snp 4596.77 1/1 99 174 2 172 0.99 exonic rs7837891 EXT1 AR,AD synonymous SNV NM_000127 exon9 c.G1761A p.E587E 0.338458 0.38 0.351069 0.3974 0.3581 Uncertain 8_118825354_C->T 8 118825354 118825354 C T snp 944.77 1/1 69 29 0 29 1.0 intronic rs4382503 EXT1 AR,AD NM_000127 exon4 c.13250+154C>T 0.368011 0.38 Uncertain 8_118844039_T->C 8 118844039 118844039 T C snp 889.77 1/1 66 28 0 28 1.0 intronic rs12682457 EXT1 AR,AD NM_000127 exon8 c.30638+1451T>C 0.206869 0.4028 Uncertain 8_119209773_C->T 8 119209773 119209773 C T snp 1030.77 0/1 99 72 34 38 0.53 UTR3 rs2514743 SAMD12 AU 0.64397 0.5169 Uncertain 8_119296422_A->C 8 119296422 119296422 A C snp 1254.77 0/1 99 100 44 56 0.56 intronic rs721816 SAMD12 AU NM_001101676 exon1 c.23+86451A>C 0.221046 0.3353 Uncertain 8_119941173_A->G 8 119941173 119941173 A G snp 3723.77 1/1 99 133 0 133 1.0 splicing rs3134046 TNFRSF11B AR NM_002546 exon3 c.4556+5A>G 0.923722 0.88 0.936645 0.9339 0.8667 Pathogenic 8_119942830_T->C 8 119942830 119942830 T C snp 277.77 0/1 99 20 11 9 0.45 intronic rs6469787 TNFRSF11B AR NM_002546 exon3 c.4556+1662T>C 0.265176 0.504 Uncertain 8_119963843_G->T 8 119963843 119963843 G T snp 37.77 0/1 66 4 2 2 0.5 intronic rs10505346 TNFRSF11B AR NM_002546 exon5 c.27418-187G>T 0.206669 0.1329 Uncertain 8_119964052_G->C 8 119964052 119964052 G C snp 5557.77 1/1 99 203 0 203 1.0 exonic rs2073618 TNFRSF11B AR nonsynonymous SNV NM_002546 exon1 c.C9G p.N3K 0.666733 0.7609 0.588916 0.6024 0.7680 0.000 P -0.976 T 0.0 T 0.0 T ID=CM045665;DIS=Osteoporotic fractures, association with;TAG=DP;PUB=12096838 DP Pathogenic 8_119964283_G->A 8 119964283 119964283 G A snp 1046.77 1/1 78 33 0 33 1.0 UTR5 rs2073617 TNFRSF11B AR 0.621605 0.6458 ID=CR021403;DIS=Increased intima-media thickness, association;TAG=DFP;PUB=12054556 DFP Uncertain 8_120079748_A->G 8 120079748 120079748 A G snp 508.77 0/1 99 33 16 17 0.52 intronic rs2465383 COLEC10 AU NM_006438 exon1 c.148+80A>G 0.341054 0.4464 Uncertain 8_120220776_G->- 8 120220776 120220776 G - indel 2118.73 1/1 99 56 0 56 1.0 splicing rs398009582 MAL2 AU NM_052886 exon2 c.65delG 1 1 0.994046 1 1 Pathogenic 8_120580546_-->A 8 120580546 120580546 - A indel 224.73 0/1 72 17 4 13 0.76 intronic rs200158900 ENPP2 AU NM_001040092 exon4 c.10732+54insA 0.639976 0.6637 0.652285 Uncertain 8_120581643_G->A 8 120581643 120581643 G A snp 579.77 0/1 99 48 25 23 0.48 intronic rs12544233 ENPP2 AU NM_001040092 exon5 c.11850+33G>A 0.393171 0.4296 0.324158 0.3869 0.4616 Uncertain 8_120583148_G->A 8 120583148 120583148 G A snp 481.77 0/1 99 41 21 20 0.49 intronic rs2305125 ENPP2 AU NM_001040092 exon6 c.13321+67G>A 0.646965 0.6171 Uncertain 8_120583185_T->C 8 120583185 120583185 T C snp 336.77 0/1 99 23 12 11 0.48 intronic rs2305126 ENPP2 AU NM_001040092 exon6 c.13321+104T>C 0.261781 0.2946 Uncertain 8_120592202_A->C 8 120592202 120592202 A C snp 34.77 0/1 63 6 4 2 0.33 intronic rs2289885 ENPP2 AU NM_001040092 exon7 c.22595-153A>C 0.451677 0.4167 Uncertain 8_120596023_A->G 8 120596023 120596023 A G snp 4397.77 1/1 99 162 0 162 1.0 exonic rs10283100 ENPP2 AU nonsynonymous SNV NM_001040092 exon17 c.T1477C p.S493P 0.983427 1 0.963402 0.9570 0.9997 1 T 0.009 P -0.930 T 0.0 T 0.0 T Pathogenic 8_120602908_C->T 8 120602908 120602908 C T snp 1626.77 1/1 99 63 0 63 1.0 intronic rs935359 ENPP2 AU NM_001040092 exon13 c.33110+38C>T 0.963259 1 0.935757 0.9337 0.9999 Uncertain 8_120602914_C->T 8 120602914 120602914 C T snp 767.77 0/1 99 59 27 32 0.54 intronic rs935360 ENPP2 AU NM_001040092 exon13 c.33110+44C>T 0.640375 0.5258 0.562163 0.5378 0.5462 Uncertain 8_120613747_C->T 8 120613747 120613747 C T snp 2796.77 0/1 99 249 129 120 0.48 intronic rs2289888 ENPP2 AU NM_001040092 exon16 c.43942+45C>T 0.586861 0.5278 0.501922 0.5244 0.5490 Uncertain 8_120613822_C->T 8 120613822 120613822 C T snp 2129.77 0/1 99 179 96 83 0.46 intronic rs2289889 ENPP2 AU NM_001040092 exon16 c.43942+120C>T 0.58726 0.5278 Uncertain 8_121013770_A->G 8 121013770 121013770 A G snp 1328.77 1/1 99 43 0 43 1.0 exonic rs2271900 DEPTOR AU nonsynonymous SNV NM_001283012 exon3 c.A308G p.N103S 0.641174 0.7093 0.650238 0.7032 0.7150 0.39 T 1.000 P -1.122 T 0.507 P 0.338 P Pathogenic 8_121018888_A->T 8 121018888 121018888 A T snp 135.03 1/1 12 4 0 4 1.0 intronic rs1543201 DEPTOR AU NM_022783 exon7 c.132957-155A>T 0.80012 0.7133 Uncertain 8_121019300_C->T 8 121019300 121019300 C T snp 227.84 1/1 18 7 0 7 1.0 intronic rs6469889 DEPTOR AU NM_022783 exon7 c.133028+186C>T 0.354633 0.5823 Uncertain 8_121061879_G->A 8 121061879 121061879 G A snp 4874.77 1/1 99 168 0 168 1.0 exonic rs4871827 DEPTOR AU nonsynonymous SNV NM_001283012 exon7 c.G863A p.S288N 0.299521 0.5526 0.260111 0.3201 0.5743 0.07 T 1.000 P -0.902 T 0.11 T 0.037 T Pathogenic 8_121159867_C->T 8 121159867 121159867 C T snp 54.74 1/1 6 2 0 2 1.0 intronic rs6995843 COL14A1 AU 0.819888 0.7589 Uncertain 8_121180667_C->T 8 121180667 121180667 C T snp 551.77 1/1 42 16 0 16 1.0 intronic rs2198751 COL14A1 AU NM_021110 exon5 c.20405+181C>T 0.330272 0.4673 Uncertain 8_121210069_T->C 8 121210069 121210069 T C snp 4624.77 1/1 99 186 0 186 1.0 exonic rs2305598 COL14A1 AU synonymous SNV NM_021110 exon7 c.T612C p.G204G 0.634385 0.6597 0.575350 0.5232 0.6245 Uncertain 8_121210250_C->T 8 121210250 121210250 C T snp 635.77 1/1 48 19 0 19 1.0 intronic rs2305599 COL14A1 AU NM_021110 exon7 c.50088+81C>T 0.274361 0.4702 Uncertain 8_121211847_C->T 8 121211847 121211847 C T snp 5304.77 1/1 99 189 0 189 1.0 intronic rs2326483 COL14A1 AU NM_021110 exon8 c.51724+42C>T 0.28115 0.4702 0.216746 0.2404 0.4738 Uncertain 8_121215991_T->C 8 121215991 121215991 T C snp 1887.77 1/1 99 74 0 74 1.0 exonic rs2305600 COL14A1 AU synonymous SNV NM_021110 exon9 c.T921C p.S307S 0.638379 0.6736 0.568353 0.5260 0.6405 1.000 P Uncertain 8_121220395_G->A 8 121220395 121220395 G A snp 463.77 1/1 36 14 0 14 1.0 intronic rs3765062 COL14A1 AU NM_021110 exon11 c.60389-75G>A 0.631789 0.6687 Uncertain 8_121228679_A->C 8 121228679 121228679 A C snp 5863.77 1/1 99 232 0 232 1.0 exonic rs4870723 COL14A1 AU nonsynonymous SNV NM_021110 exon14 c.A1687C p.N563H 0.590056 0.6687 0.515993 0.5125 0.6281 0.05 T 0.000 P -0.969 T 0.482 P 0.506 P Pathogenic 8_121240812_G->A 8 121240812 121240812 G A snp 211.84 1/1 18 6 0 6 1.0 intronic rs2305602 COL14A1 AU NM_021110 exon18 c.80867-136G>A 0.217252 0.4742 Uncertain 8_121255923_GATTATA->- 8 121255923 121255929 GATTATA - indel 700.77 1/1 21 7 0 7 1.0 intronic rs151146089 COL14A1 AU NM_021110 exon20 c.96036-194_96036-188delGATTATA 0.186701 0.4067 Uncertain 8_121256150_T->C 8 121256150 121256150 T C snp 4279.77 1/1 99 169 0 169 1.0 exonic rs2305603 COL14A1 AU synonymous SNV NM_021110 exon20 c.T2382C p.L794L 0.186701 0.4067 0.068507 0.1092 0.4113 Uncertain 8_121259862_G->A 8 121259862 121259862 G A snp 2856.77 1/1 99 102 0 102 1.0 exonic rs2305605 COL14A1 AU synonymous SNV NM_021110 exon21 c.G2490A p.S830S 0.171126 0.4107 0.047209 0.1040 0.4155 Uncertain 8_121262775_A->G 8 121262775 121262775 A G snp 1692.77 1/1 99 49 0 49 1.0 intronic rs2305607 COL14A1 AU NM_021110 exon22 c.102774-80A>G 0.20647 0.4097 Uncertain 8_121267617_C->T 8 121267617 121267617 C T snp 2530.77 1/1 99 83 0 83 1.0 intronic rs993823 COL14A1 AU NM_021110 exon23 c.107514+22C>T 0.770168 0.8452 0.738890 0.6991 0.8496 Uncertain 8_121267736_A->G 8 121267736 121267736 A G snp 436.77 1/1 33 11 0 11 1.0 intronic rs3750255 COL14A1 AU NM_021110 exon23 c.107514+141A>G 0.192093 0.4048 Uncertain 8_121290573_T->A 8 121290573 121290573 T A snp 142.84 0/1 18 7 1 6 0.86 intronic rs2305609 COL14A1 AU NM_021110 exon28 c.130592-100T>A 0.669129 0.5794 Uncertain 8_121292407_G->A 8 121292407 121292407 G A snp 556.77 0/1 99 42 22 20 0.48 intronic rs1869831 COL14A1 AU NM_021110 exon29 c.132257+69G>A 0.653954 0.5794 Uncertain 8_121292805_G->C 8 121292805 121292805 G C snp 487.77 0/1 99 29 12 17 0.59 intronic rs1869832 COL14A1 AU NM_021110 exon30 c.132868-144G>C 0.329473 0.5476 Uncertain 8_121293143_TT->- 8 121293143 121293144 TT - indel 112.73 0/1 99 19 12 7 0.37 intronic rs397705616 COL14A1 AU NM_021110 exon31 c.133078-16_133078-15delTT 0.4702 0.5538 Uncertain 8_121293331_G->A 8 121293331 121293331 G A snp 317.77 0/1 99 41 23 18 0.44 intronic rs1563388 COL14A1 AU NM_021110 exon31 c.133217+33G>A 0.653954 0.5794 0.683482 0.6021 0.5851 Uncertain 8_121293386_A->T 8 121293386 121293386 A T snp 71.77 0/1 99 10 7 3 0.3 intronic COL14A1 AU NM_021110 exon31 c.133217+88A>T Uncertain 8_121309862_A->T 8 121309862 121309862 A T snp 162.77 0/1 99 19 10 9 0.47 intronic rs2219241 COL14A1 AU NM_021110 exon35 c.149746+35A>T 0.670527 0.5784 0.699692 0.6146 0.5910 Uncertain 8_121313157_ACTC->- 8 121313157 121313160 ACTC - indel 484.73 0/1 99 28 14 14 0.5 intronic rs372451407 COL14A1 AU NM_021110 exon36 c.152976+100_152976+103delACTC Uncertain 8_121326123_AG->- 8 121326123 121326124 AG - indel 717.73 0/1 99 55 36 19 0.35 intronic rs3217653 COL14A1 AU NM_021110 exon38 c.166089-47_166089-46delAG 0.542532 0.5466 0.508786 0.4566 0.5543 Uncertain 8_121327673_C->T 8 121327673 121327673 C T snp 438.77 0/1 99 29 15 14 0.48 intronic rs7844334 COL14A1 AU NM_021110 exon39 c.167690-98C>T 0.532947 0.5486 Uncertain 8_121328383_-->T 8 121328383 121328383 - T indel 866.73 0/1 99 32 10 22 0.69 intronic rs78746650 COL14A1 AU NM_021110 exon40 c.168155+147insT 0.535343 0.5466 Uncertain 8_121353416_G->A 8 121353416 121353416 G A snp 90.77 0/1 99 9 4 5 0.56 intronic rs1563390 COL14A1 AU NM_021110 exon43 c.193482-147G>A 0.466054 0.4395 Uncertain 8_121353651_A->G 8 121353651 121353651 A G snp 1426.77 0/1 99 153 89 64 0.42 intronic rs1563391 COL14A1 AU NM_021110 exon43 c.193518+52A>G 0.516573 0.4395 0.513751 0.4650 0.4221 Uncertain 8_121353692_A->T 8 121353692 121353692 A T snp 958.77 0/1 99 112 70 42 0.38 intronic rs1563392 COL14A1 AU NM_021110 exon43 c.193518+93A>T 0.483027 0.4385 Uncertain 8_121354505_G->A 8 121354505 121354505 G A snp 134.77 0/1 99 17 11 6 0.35 intronic rs63246862 COL14A1 AU NM_021110 exon44 c.194537-113G>A 0.530751 0.4395 Uncertain 8_121354506_G->A 8 121354506 121354506 G A snp 171.77 0/1 99 17 11 6 0.35 intronic rs3816523 COL14A1 AU NM_021110 exon44 c.194537-112G>A 0.530751 0.4395 Uncertain 8_121354851_G->A 8 121354851 121354851 G A snp 43.77 0/1 72 4 2 2 0.5 intronic rs2290523 COL14A1 AU NM_021110 exon44 c.194604+166G>A 0.530751 0.4395 Uncertain 8_121383048_T->C 8 121383048 121383048 T C snp 1024.77 1/1 75 34 0 34 1.0 intronic rs4463470 COL14A1 AU NM_021110 exon48 c.223309-342T>C 0.826677 0.7986 0.8731 0.7947 0.4 T 0.0 P -0.995 T Uncertain 8_121383082_A->T 8 121383082 121383082 A T snp 580.77 1/1 42 21 0 21 1.0 intronic rs6469922 COL14A1 AU NM_021110 exon48 c.223309-308A>T 0.888379 0.9216 0.9512 0.9972 Uncertain 8_121408195_T->C 8 121408195 121408195 T C snp 1646.77 1/1 99 57 0 57 1.0 UTR3 rs6650 MRPL13 AU 0.472843 0.5794 Uncertain 8_121455558_-->A 8 121455558 121455558 - A indel 330.73 1/1 50 31 0 31 1.0 intronic rs397755102 MRPL13 AU NM_014078 exon6 c.47206+10insA 0.297324 0.3651 0.3783 0.3784 Uncertain 8_121471361_A->G 8 121471361 121471361 A G snp 99.28 1/1 9 3 0 3 1.0 intronic rs6984090 MTBP AU NM_022045 exon8 c.13744-93A>G 0.725839 0.7966 Uncertain 8_121483196_G->A 8 121483196 121483196 G A snp 1007.77 1/1 72 34 0 34 1.0 intronic rs13248998 MTBP AU NM_022045 exon11 c.25467+19G>A 0.5002 0.5764 0.553684 0.6097 0.5962 Uncertain 8_121530061_C->T 8 121530061 121530061 C T snp 3250.77 1/1 99 109 0 109 1.0 intronic rs13258768 MTBP AU NM_022045 exon19 c.72380-29C>T 0.48762 0.5764 0.530683 0.6053 0.5977 Uncertain 8_121530190_A->G 8 121530190 121530190 A G snp 6963.77 1/1 99 248 0 248 1.0 exonic rs13258848 MTBP AU synonymous SNV NM_022045 exon19 c.A2346G p.E782E 0.478634 0.5774 0.523681 0.6014 0.5982 Uncertain 8_121530385_TT->- 8 121530385 121530386 TT - indel 1396.73 1/1 87 31 0 31 1.0 intronic rs34340354 MTBP AU NM_022045 exon19 c.72630+45_72630+46delTT 0.478435 0.5774 0.523667 0.6028 0.5964 Uncertain 8_121530460_T->C 8 121530460 121530460 T C snp 141.03 1/1 12 4 0 4 1.0 intronic rs12155618 MTBP AU NM_022045 exon19 c.72630+120T>C 0.501597 0.5774 Uncertain 8_121531154_G->A 8 121531154 121531154 G A snp 1531.77 1/1 99 43 0 43 1.0 intronic rs13269481 MTBP AU NM_022045 exon20 c.73347+97G>A 0.478435 0.5774 Uncertain 8_121583488_T->C 8 121583488 121583488 T C snp 669.77 0/1 99 84 57 27 0.32 intronic rs72680558 SNTB1 AU NM_021021 exon4 c.36209-3837T>C 0.21845 0.1319 Uncertain 8_121583533_G->A 8 121583533 121583533 G A snp 942.77 0/1 99 133 88 45 0.34 intronic rs72680559 SNTB1 AU NM_021021 exon4 c.36209-3792G>A 0.21885 0.1319 Uncertain 8_121583562_C->T 8 121583562 121583562 C T snp 1208.77 0/1 99 159 100 59 0.37 intronic rs72680560 SNTB1 AU NM_021021 exon4 c.36209-3763C>T 0.21885 0.1319 0.2479 0.0909 Uncertain 8_121583603_G->A 8 121583603 121583603 G A snp 1242.77 0/1 99 166 104 62 0.37 intronic rs72680561 SNTB1 AU NM_021021 exon4 c.36209-3722G>A 0.21845 0.1319 0.2478 0.0909 Uncertain 8_121583635_G->T 8 121583635 121583635 G T snp 1083.77 0/1 99 126 76 50 0.4 intronic rs73707305 SNTB1 AU NM_021021 exon4 c.36209-3690G>T 0.215655 0.1319 0.2470 0.0909 Uncertain 8_121583719_G->T 8 121583719 121583719 G T snp 284.77 0/1 99 23 13 10 0.43 intronic rs200630168 SNTB1 AU NM_021021 exon4 c.36209-3606G>T 0.205871 0.126 Uncertain 8_123966085_G->A 8 123966085 123966085 G A snp 3040.77 1/1 99 108 2 106 0.98 exonic rs3802264 ZHX2 AU nonsynonymous SNV NM_014943 exon3 c.G2335A p.G779S 0.117412 0.3681 0.022682 0.0657 0.3385 0.18 T 0.986 P -0.922 T 0.008 T 0.004 T Pathogenic 8_123966159_G->C 8 123966159 123966159 G C snp 1940.77 1/1 99 69 0 69 1.0 exonic rs3802265 ZHX2 AU synonymous SNV NM_014943 exon3 c.G2409C p.A803A 0.466853 0.7421 0.397432 0.4003 0.7184 Uncertain 8_124027628_T->C 8 124027628 124027628 T C snp 1445.77 1/1 99 48 0 48 1.0 UTR3 rs7159 DERL1 AU 0.634185 0.7014 Uncertain 8_124031672_A->C 8 124031672 124031672 A C snp 77.77 0/1 99 7 4 3 0.43 intronic rs60050028 DERL1 AU NM_024295 exon2 c.3859+127A>C 0.110423 0.2093 Uncertain 8_124037435_A->T 8 124037435 124037435 A T snp 262.8 1/1 21 7 0 7 1.0 intronic rs3765210 DERL1 AU NM_001134671 exon6 c.9604+145A>T 0.620807 0.7044 Uncertain 8_124042733_T->C 8 124042733 124042733 T C snp 305.78 1/1 24 9 0 9 1.0 intronic rs2891672 DERL1 AU NM_001134671 exon7 c.15158-111T>C 0.885783 0.7877 Uncertain 8_124084909_G->C 8 124084909 124084909 G C snp 878.77 0/1 99 66 33 33 0.5 upstream rs2385160 TBC1D31 AU 0.167931 0.1935 Uncertain 8_124089526_C->A 8 124089526 124089526 C A snp 1902.77 0/1 99 123 50 73 0.59 intronic rs13254600 TBC1D31 AU NM_001145088 exon2 c.4488+29C>A 0.239018 0.1071 0.289482 0.2778 0.1022 Uncertain 8_124096315_C->G 8 124096315 124096315 C G snp 252.77 0/1 99 14 6 8 0.57 intronic rs4871346 TBC1D31 AU NM_001145088 exon4 c.11392-86C>G 0.409545 0.1508 Uncertain 8_124096721_A->G 8 124096721 124096721 A G snp 514.77 0/1 99 25 9 16 0.64 intronic rs4870845 TBC1D31 AU NM_001145088 exon4 c.11571+141A>G 0.211661 0.1478 Uncertain 8_124114333_G->T 8 124114333 124114333 G T snp 1138.77 0/1 99 98 50 48 0.49 intronic rs10956116 TBC1D31 AU NM_001145088 exon7 c.28238+1086G>T 0.472843 0.4643 Uncertain 8_124114560_T->C 8 124114560 124114560 T C snp 4495.77 1/1 99 163 2 161 0.99 intronic rs10956117 TBC1D31 AU NM_001145088 exon7 c.28238+1313T>C 0.608227 0.3681 0.5528 0.3081 Uncertain 8_124114589_G->A 8 124114589 124114589 G A snp 1578.77 0/1 99 128 61 67 0.52 intronic rs12550310 TBC1D31 AU NM_001145088 exon7 c.28238+1342G>A 0.259385 0.1419 Uncertain 8_124114598_-->T 8 124114598 124114598 - T indel 648.73 0/1 99 83 45 38 0.46 intronic rs146629815 TBC1D31 AU NM_001145088 exon7 c.28238+1351insT Uncertain 8_124121798_A->G 8 124121798 124121798 A G snp 2003.77 0/1 99 186 96 90 0.48 exonic rs16897969 TBC1D31 AU synonymous SNV NM_001145088 exon10 c.A1374G p.A458A 0.291334 0.1538 0.323159 0.2901 0.1499 Uncertain 8_124206324_G->A 8 124206324 124206324 G A snp 836.77 0/1 99 65 30 35 0.54 exonic rs7813708 FAM83A AU nonsynonymous SNV NM_001288587 exon2 c.G541A p.A181T 0.15655 0.2133 0.157235 0.1935 0.2385 1 T 0.000 P -0.952 T 0.313 T 0.04 T Pathogenic 8_124206394_C->G 8 124206394 124206394 C G snp 347.77 0/1 99 30 14 16 0.53 splicing rs7813460 FAM83A AU NM_001288587 exon2 c.11292+6C>G 0.170727 0.2133 0.168384 0.1971 0.2379 Pathogenic 8_124359749_C->G 8 124359749 124359749 C G snp 442.77 0/1 99 36 20 16 0.44 intronic rs9297666 ATAD2 AU NM_014109 exon13 c.26273+103C>G 0.485224 0.5169 Uncertain 8_124440174_A->G 8 124440174 124440174 A G snp 1437.77 1/1 99 55 0 55 1.0 exonic rs6999234 WDYHV1 AU nonsynonymous SNV NM_018024 exon2 c.A94G p.I32V 0.410343 0.5863 0.355682 0.3803 0.5559 1 T 1.0 P -0.936 T 0.007 T 0.012 T Pathogenic 8_124440336_-->AG 8 124440336 124440336 - AG indel 1349.73 1/1 90 31 0 31 1.0 intronic rs10628888 WDYHV1 AU NM_018024 exon2 c.11174+73insAG 0.469449 0.5883 Uncertain 8_124442181_T->G 8 124442181 124442181 T G snp 1035.77 0/1 99 80 44 36 0.45 intronic rs74564385 WDYHV1 AU NM_018024 exon3 c.13133-41T>G 0.0339457 0.1667 0.000154 0.0111 0.1446 Uncertain 8_124442187_A->G 8 124442187 124442187 A G snp 3026.77 1/1 99 96 0 96 1.0 intronic rs13278992 WDYHV1 AU NM_018024 exon3 c.13133-35A>G 0.410343 0.5863 0.355836 0.3851 0.5598 Uncertain 8_124448689_T->C 8 124448689 124448689 T C snp 3381.77 1/1 99 113 0 113 1.0 splicing rs9297669 WDYHV1 AU NM_018024 exon4 c.19603-3T>C 0.914337 0.9921 0.897586 0.9294 0.9951 Pathogenic 8_124448736_A->G 8 124448736 124448736 A G snp 5149.77 1/1 99 189 0 189 1.0 exonic rs7014678 WDYHV1 AU nonsynonymous SNV NM_001283024 exon4 c.A98G p.N33S 0.410144 0.5863 0.355913 0.3797 0.5568 1 T 1.000 P -0.919 T 0.0 T 0.001 T Pathogenic 8_124448804_T->A 8 124448804 124448804 T A snp 6089.77 1/1 99 230 0 230 1.0 exonic rs6470147 WDYHV1 AU nonsynonymous SNV NM_001283024 exon4 c.T166A p.F56I 0.410144 0.5863 0.355913 0.3798 0.5567 0.1 T 1.000 P -0.966 T 0.092 T 0.047 T Pathogenic 8_124448908_TT->- 8 124448908 124448909 TT - indel 1691.73 1/1 99 62 1 61 0.98 intronic rs10590897 WDYHV1 AU NM_018024 exon4 c.19752+67_19752+68delTT 0.410743 0.5863 Uncertain 8_124448947_A->G 8 124448947 124448947 A G snp 725.77 1/1 54 21 0 21 1.0 intronic rs6470148 WDYHV1 AU NM_018024 exon4 c.19752+106A>G 0.939497 0.9921 Uncertain 8_124449466_C->T 8 124449466 124449466 C T snp 2539.77 1/1 99 89 0 89 1.0 exonic rs3824250 WDYHV1 AU nonsynonymous SNV NM_001283024 exon5 c.C220T p.R74C 0.410343 0.5863 0.355759 0.3797 0.5556 0.04 T 1.0 P -0.919 T 0.99 D 0.659 D Pathogenic 8_124449672_T->G 8 124449672 124449672 T G snp 2869.77 1/1 99 105 0 105 1.0 intronic rs11991520 WDYHV1 AU NM_018024 exon5 c.20485+98T>G 0.410343 0.5863 Uncertain 8_124449712_G->A 8 124449712 124449712 G A snp 1687.77 1/1 99 56 0 56 1.0 intronic rs11987798 WDYHV1 AU NM_018024 exon5 c.20485+138G>A 0.410343 0.5863 Uncertain 8_124449742_C->G 8 124449742 124449742 C G snp 1038.77 1/1 75 33 0 33 1.0 intronic rs11987776 WDYHV1 AU NM_018024 exon5 c.20485+168C>G 0.410343 0.5863 Uncertain 8_124450364_G->T 8 124450364 124450364 G T snp 3478.77 1/1 99 132 0 132 1.0 intronic rs3765212 WDYHV1 AU NM_018024 exon5 c.20485+790G>T 0.410343 0.5863 0.4017 0.4621 Uncertain 8_124450631_T->C 8 124450631 124450631 T C snp 478.77 1/1 36 14 0 14 1.0 intronic rs11992509 WDYHV1 AU NM_018024 exon5 c.20485+1057T>C 0.410343 0.5863 Uncertain 8_124453543_T->A 8 124453543 124453543 T A snp 1487.77 1/1 99 51 0 51 1.0 splicing rs4416808 WDYHV1 AU NM_018024 exon6 c.24456-2T>A 0.410144 0.5863 0.350738 0.4126 0.5939 Pathogenic 8_124453662_T->C 8 124453662 124453662 T C snp 4178.77 1/1 99 158 0 158 1.0 UTR3 rs13269287 WDYHV1 AU 0.409944 0.5863 0.354737 0.3987 0.5778 Uncertain 8_124453799_A->G 8 124453799 124453799 A G snp 1411.77 1/1 99 46 0 46 1.0 UTR3 rs1045270 WDYHV1 AU 0.410144 0.5863 Uncertain 8_124525377_T->G 8 124525377 124525377 T G snp 350.77 0/1 99 24 12 12 0.5 intronic rs3739288 FBXO32 AU NM_058229 exon4 c.9825-60T>G 0.21845 0.4831 Uncertain 8_124525483_C->T 8 124525483 124525483 C T snp 1516.77 0/1 99 127 60 67 0.53 exonic rs3739287 FBXO32 AU synonymous SNV NM_148177 exon3 c.G171A p.T57T 0.203474 0.4673 0.121944 0.1340 0.4609 Uncertain 8_124526607_G->A 8 124526607 124526607 G A snp 989.77 0/1 99 62 27 35 0.56 intronic rs2294088 FBXO32 AU NM_058229 exon5 c.10961+34G>A 0.435104 0.6339 0.327926 0.3676 0.6825 Uncertain 8_124553365_G->A 8 124553365 124553365 G A snp 219.77 0/1 99 16 8 8 0.5 UTR5 rs553371841 FBXO32 AU 0.000798722 0.003 Uncertain 8_124658210_C->T 8 124658210 124658210 C T snp 2328.77 0/1 99 243 137 106 0.44 exonic rs16898671 KLHL38 AU synonymous SNV NM_001081675 exon3 c.G1515A p.A505A 0.160743 0.1637 0.142541 0.1305 0.1797 Uncertain 8_124658400_G->T 8 124658400 124658400 G T snp 163.77 0/1 99 20 14 6 0.3 intronic rs77201406 KLHL38 AU NM_001081675 exon1 c.290+132G>T 0.169728 0.1627 Uncertain 8_124658404_A->G 8 124658404 124658404 A G snp 721.77 1/1 54 19 0 19 1.0 intronic rs11786734 KLHL38 AU NM_001081675 exon1 c.290+136A>G 0.766773 0.7212 Uncertain 8_124659329_C->A 8 124659329 124659329 C A snp 997.77 1/1 72 34 0 34 1.0 intronic rs11991744 KLHL38 AU NM_001081675 exon2 c.1276+75C>A 0.78754 0.7212 Uncertain 8_124663769_A->T 8 124663769 124663769 A T snp 3022.77 1/1 99 100 0 100 1.0 intronic rs10109736 KLHL38 AU NM_001081675 exon3 c.5838-47A>T 0.909545 0.9315 0.911619 0.9039 0.9492 Uncertain 8_124663895_G->A 8 124663895 124663895 G A snp 2444.77 0/1 99 216 116 100 0.46 exonic rs16898689 KLHL38 AU synonymous SNV NM_001081675 exon1 c.C1272T p.P424P 0.182907 0.2202 0.106441 0.1158 0.2492 Uncertain 8_124663987_C->G 8 124663987 124663987 C G snp 2573.77 0/1 99 186 91 95 0.51 exonic rs16898691 KLHL38 AU nonsynonymous SNV NM_001081675 exon1 c.G1180C p.G394R 0.116414 0.2192 0.043120 0.0792 0.2465 0.01 T 0.028 P -1.080 T 0.0 T 0.002 T Pathogenic 8_124664130_C->T 8 124664130 124664130 C T snp 3364.77 0/1 99 250 121 129 0.52 exonic rs11780509 KLHL38 AU nonsynonymous SNV NM_001081675 exon1 c.G1037A p.R346K 0.706869 0.7113 0.762651 0.7490 0.7012 1 T 0.0 P -0.951 T 0.0 T 0.001 T Pathogenic 8_124664167_T->C 8 124664167 124664167 T C snp 3511.77 0/1 99 250 120 130 0.52 exonic rs11784192 KLHL38 AU nonsynonymous SNV NM_001081675 exon1 c.A1000G p.I334V 0.726238 0.7113 0.805295 0.7908 0.7007 0.97 T 0.0 P -0.933 T 0.0 T 0.007 T Pathogenic 8_124664792_C->T 8 124664792 124664792 C T snp 2637.77 0/1 99 204 97 107 0.52 exonic rs7387544 KLHL38 AU synonymous SNV NM_001081675 exon1 c.G375A p.S125S 0.708466 0.7113 0.762486 0.7494 0.7000 Uncertain 8_124664873_A->G 8 124664873 124664873 A G snp 2793.77 0/1 99 181 72 109 0.6 exonic rs7387792 KLHL38 AU synonymous SNV NM_001081675 exon1 c.T294C p.H98H 0.727636 0.7113 0.797629 0.7903 0.6989 Uncertain 8_124664874_T->C 8 124664874 124664874 T C snp 2740.77 0/1 99 177 72 105 0.59 exonic rs7386562 KLHL38 AU nonsynonymous SNV NM_001081675 exon1 c.A293G p.H98R 0.727037 0.7113 0.797774 0.7900 0.6989 0.71 T 0.0 P -0.982 T 0.0 T 0.0 T Pathogenic 8_124665211_C->T 8 124665211 124665211 C T snp 305.77 0/1 99 21 9 12 0.57 upstream rs7387855 KLHL38 AU 0.727636 0.7113 0.804998 0.7943 0.7020 Uncertain 8_124693444_C->T 8 124693444 124693444 C T snp 854.77 0/1 99 41 17 24 0.59 UTR3 rs3739283 ANXA13 AU 0.690895 0.4365 0.754037 0.7020 0.4138 Uncertain 8_124696867_C->T 8 124696867 124696867 C T snp 1589.77 1/1 76 68 2 66 0.97 exonic rs2294015 ANXA13 AU nonsynonymous SNV NM_004306 exon10 c.G814A p.V272I 0.696086 0.498 0.682147 0.6241 0.4984 0.84 T 0.0 P -1.029 T 0.0 T 0.001 T Pathogenic 8_124749610_C->T 8 124749610 124749610 C T snp 6214.77 1/1 99 238 0 238 1.0 UTR5 rs6470179 ANXA13 AU 0.944489 0.996 0.926957 0.9338 0.9987 Uncertain 8_124749652_C->- 8 124749652 124749652 C - indel 7176.73 1/1 99 210 0 210 1.0 upstream rs11331268 ANXA13 AU 0.860623 0.9722 Uncertain 8_124749704_T->G 8 124749704 124749704 T G snp 3316.77 1/1 99 117 0 117 1.0 upstream rs10956146 ANXA13 AU 0.491813 0.7163 Uncertain 8_124787892_G->T 8 124787892 124787892 G T snp 501.77 0/1 99 56 35 21 0.38 intronic rs13253599 FAM91A1 AU NM_144963 exon3 c.6596+354G>T 0.246406 0.3075 Uncertain 8_124789417_G->A 8 124789417 124789417 G A snp 76.77 0/1 99 12 8 4 0.33 intronic rs7012004 FAM91A1 AU NM_144963 exon4 c.8562-87G>A 0.252796 0.3075 Uncertain 8_124797135_A->G 8 124797135 124797135 A G snp 40.77 0/1 36 4 2 2 0.5 intronic rs1367829 FAM91A1 AU NM_144963 exon10 c.16378-185A>G 0.436901 0.3214 Uncertain 8_124817606_T->- 8 124817606 124817606 T - indel 160.73 0/1 99 29 16 13 0.45 intronic rs71576705 FAM91A1 AU NM_144963 exon19 c.36637+27delT 0.364417 0.3591 0.3766 0.4214 Uncertain 8_124824826_G->A 8 124824826 124824826 G A snp 2702.77 1/1 99 99 0 99 1.0 exonic rs1946586 FAM91A1 AU nonsynonymous SNV NM_144963 exon24 c.G2399A p.C800Y 0.998203 1 0.993747 0.9953 1 1 T 0.0 P -0.751 T 0.0 T 0.0 T Pathogenic 8_124982215_G->A 8 124982215 124982215 G A snp 1178.77 0/1 99 146 96 50 0.34 intronic rs7008604 FER1L6 AU NM_001039112 exon6 c.14036-59G>A 0.342053 0.374 0.401664 Uncertain 8_124987478_T->C 8 124987478 124987478 T C snp 1173.77 0/1 99 95 39 56 0.59 exonic rs7465584 FER1L6 AU synonymous SNV NM_001039112 exon8 c.T615C p.S205S 0.396166 0.4405 0.454849 0.4319 0.4324 Uncertain 8_125022733_T->G 8 125022733 125022733 T G snp 709.77 0/1 99 73 42 31 0.42 ncRNA_intronic rs7844981 FER1L6-AS1 AU 0.169529 0.2629 Uncertain 8_125047370_T->C 8 125047370 125047370 T C snp 171.9 1/1 15 5 0 5 1.0 ncRNA_intronic rs4871451 FER1L6-AS1 AU 0.818291 0.6548 Uncertain 8_125051966_A->G 8 125051966 125051966 A G snp 1005.77 1/1 75 29 0 29 1.0 ncRNA_intronic rs4269524 FER1L6-AS1 AU 0.998802 1 Uncertain 8_125052018_T->C 8 125052018 125052018 T C snp 2455.77 1/1 99 84 0 84 1.0 ncRNA_intronic rs4389914 FER1L6-AS1 AU 0.788938 0.6349 Uncertain 8_125061895_G->A 8 125061895 125061895 G A snp 1511.77 1/1 99 56 1 55 0.98 exonic rs4870887 FER1L6 AU synonymous SNV NM_001039112 exon22 c.G2772A p.K924K 0.48103 0.506 0.488351 0.4721 0.5055 Uncertain 8_125072426_T->C 8 125072426 125072426 T C snp 6632.77 1/1 99 245 0 245 1.0 exonic rs4483140 FER1L6 AU synonymous SNV NM_001039112 exon23 c.T2880C p.P960P 0.807907 0.6915 0.864888 0.8301 0.7012 Uncertain 8_125072709_A->G 8 125072709 125072709 A G snp 144.03 1/1 12 6 0 6 1.0 ncRNA_exonic rs13258808 FER1L6-AS2 AU 0.807907 0.6915 0.871222 Uncertain 8_125076589_T->G 8 125076589 125076589 T G snp 2454.77 1/1 99 83 0 83 1.0 exonic rs7012186 FER1L6 AU nonsynonymous SNV NM_001039112 exon26 c.T3330G p.D1110E 0.773363 0.6716 0.844250 0.8177 0.6825 1 T 0.0 P -0.953 T 0.0 T 0.0 T Pathogenic 8_125076988_T->C 8 125076988 125076988 T C snp 302.78 1/1 24 8 0 8 1.0 ncRNA_intronic rs4871460 FER1L6-AS2 AU 0.771965 0.6706 Uncertain 8_125082585_G->A 8 125082585 125082585 G A snp 216.84 1/1 18 6 0 6 1.0 ncRNA_intronic rs7836974 FER1L6-AS2 AU 0.796526 0.6627 Uncertain 8_125088636_A->G 8 125088636 125088636 A G snp 3817.77 1/1 99 130 0 130 1.0 ncRNA_intronic rs9643188 FER1L6-AS2 AU 0.809704 0.6944 Uncertain 8_125094847_C->G 8 125094847 125094847 C G snp 425.77 1/1 33 11 0 11 1.0 ncRNA_intronic rs10956163 FER1L6-AS2 AU 0.747005 0.6716 Uncertain 8_125107201_G->A 8 125107201 125107201 G A snp 3105.77 1/1 99 119 0 119 1.0 exonic rs6470219 FER1L6 AU synonymous SNV NM_001039112 exon35 c.G4617A p.P1539P 0.718051 0.6419 0.792826 0.7988 0.6582 Uncertain 8_125107207_C->T 8 125107207 125107207 C T snp 3204.83 1/1 99 122 0 122 1.0 exonic rs6470220 FER1L6 AU synonymous SNV NM_001039112 exon35 c.C4623T p.V1541V 0.759585 0.6627 0.829500 0.8116 0.6733 Uncertain 8_125110258_C->T 8 125110258 125110258 C T snp 2150.77 1/1 99 76 1 75 0.99 ncRNA_intronic rs10956164 FER1L6-AS2 AU 0.802117 0.6657 Uncertain 8_125131813_-->C 8 125131813 125131813 - C indel 824.73 0/1 99 55 26 29 0.53 ncRNA_intronic rs78565233 FER1L6-AS2 AU 0.156949 0.1042 0.162043 0.1166 0.1109 Uncertain 8_125463098_A->T 8 125463098 125463098 A T snp 929.77 0/1 99 63 29 34 0.54 UTR5 rs3812474 TRMT12 AU 0.570687 0.4415 Uncertain 8_125463250_T->C 8 125463250 125463250 T C snp 2242.77 0/1 99 170 85 85 0.5 exonic rs3812475 TRMT12 AU nonsynonymous SNV NM_017956 exon1 c.T82C p.W28R 0.571086 0.4415 0.547440 0.5124 0.4562 1 T 0.000 P -0.963 T 0.0 T 0.0 T Pathogenic 8_125463435_C->G 8 125463435 125463435 C G snp 2243.77 0/1 99 175 92 83 0.47 exonic rs61737278 TRMT12 AU synonymous SNV NM_017956 exon1 c.C267G p.L89L 0.0523163 0.0873 0.015070 0.0394 0.0975 Uncertain 8_125498547_C->T 8 125498547 125498547 C T snp 2062.77 0/1 99 163 81 82 0.5 exonic rs3812471 RNF139 AU synonymous SNV NM_007218 exon2 c.C657T p.Y219Y 0.570887 0.4355 0.545441 0.5071 0.4526 Uncertain 8_125499363_G->A 8 125499363 125499363 G A snp 1506.77 0/1 99 140 76 64 0.46 exonic rs72713066 RNF139 AU synonymous SNV NM_007218 exon2 c.G1473A p.S491S 0.153355 0.1915 0.067892 0.1016 0.2121 Uncertain 8_125516602_G->C 8 125516602 125516602 G C snp 189.77 0/1 99 16 8 8 0.5 intronic rs72713074 TATDN1 AU NM_032026 exon4 c.15754+14G>C 0.153155 0.1915 0.069353 0.1026 0.2130 Uncertain 8_125528135_G->A 8 125528135 125528135 G A snp 456.77 0/1 99 46 24 22 0.48 exonic rs11542673 TATDN1 AU synonymous SNV NM_001146160 exon3 c.C198T p.C66C 0.154553 0.1915 0.070660 0.1023 0.2122 1.0 P -1.047 T Likely benign 8_125551567_C->T 8 125551567 125551567 C T snp 3921.77 1/1 99 138 0 138 1.0 intronic rs7010411 NDUFB9 AR,XD,AO NM_005005 exon1 c.101+39C>T 0.309704 0.3532 0.253195 0.2933 0.3823 Uncertain 8_125555282_C->T 8 125555282 125555282 C T snp 180.9 1/1 15 5 0 5 1.0 intronic rs72714706 NDUFB9 AR,XD,AO NM_005005 exon2 c.3900-45C>T 0.144369 0.1935 0.061587 0.0994 0.2098 Uncertain 8_125562029_C->T 8 125562029 125562029 C T snp 1086.77 0/1 99 90 44 46 0.51 exonic rs10195 NDUFB9 AR,XD,AO nonsynonymous SNV NM_005005 exon4 c.C436T p.P146S 0.102835 0.1558 0.090420 0.0926 0.1703 0.15 T 0.0 P -1.061 T 0.007 T 0.008 T CLINSIG=non-pathogenic;CLNDBN=not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000127134.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Pathogenic 8_125565328_T->C 8 125565328 125565328 T C snp 1502.77 0/1 99 140 76 64 0.46 exonic rs3829037 MTSS1 AU nonsynonymous SNV NM_001282974 exon14 c.A2098G p.T700A 0.161741 0.1587 0.193372 0.1995 0.1721 0.69 T 0.0 P -1.097 T 0.003 T 0.004 T Pathogenic 8_125568162_A->G 8 125568162 125568162 A G snp 2501.77 0/1 99 187 94 93 0.5 intronic rs12375359 MTSS1 AU NM_014751 exon2 c.2913+17A>G 0.204473 0.129 0.233584 0.1872 0.1068 Uncertain 8_125568175_T->C 8 125568175 125568175 T C snp 2770.77 0/1 99 210 101 109 0.52 intronic rs3793395 MTSS1 AU NM_014751 exon2 c.2913+30T>C 0.192692 0.2202 0.167307 0.1549 0.2482 Uncertain 8_125570144_G->A 8 125570144 125570144 G A snp 475.77 1/1 36 21 0 21 1.0 intronic rs4870903 MTSS1 AU NM_014751 exon4 c.4884+28G>A 0.658546 0.5665 0.711976 0.7051 0.6153 Uncertain 8_125575013_G->A 8 125575013 125575013 G A snp 2390.77 0/1 99 157 60 97 0.62 intronic rs4007921 MTSS1 AU NM_014751 exon5 c.9790-9G>A 0.0776757 0.1667 0.060280 0.0758 0.1687 Uncertain 8_125577825_G->C 8 125577825 125577825 G C snp 624.77 0/1 99 56 28 28 0.5 intronic rs2303953 MTSS1 AU NM_014751 exon6 c.12670-77G>C 0.142971 0.1567 Uncertain 8_125577869_C->G 8 125577869 125577869 C G snp 697.77 0/1 99 74 41 33 0.45 intronic rs2303952 MTSS1 AU NM_014751 exon6 c.12670-33C>G 0.44988 0.3671 0.522374 0.5645 0.3886 Uncertain 8_125578134_A->T 8 125578134 125578134 A T snp 56.74 1/1 6 2 0 2 1.0 intronic rs4871501 MTSS1 AU NM_014751 exon6 c.12768+134A>T 0.630591 0.5407 Uncertain 8_125579737_G->A 8 125579737 125579737 G A snp 224.84 1/1 18 6 0 6 1.0 intronic rs3857943 MTSS1 AU NM_014751 exon7 c.14187+318G>A 0.623003 0.5169 Uncertain 8_125579788_G->A 8 125579788 125579788 G A snp 1057.77 1/1 78 31 0 31 1.0 intronic rs3857944 MTSS1 AU NM_014751 exon7 c.14187+369G>A 0.622804 0.5169 Uncertain 8_125579973_C->T 8 125579973 125579973 C T snp 4533.77 1/1 99 157 0 157 1.0 intronic rs6470251 MTSS1 AU NM_014751 exon7 c.14187+554C>T 0.632588 0.5169 0.6444 0.5391 0 D 0.0 P -0.963 T 0.0 T 0.0 T Uncertain 8_125579990_C->T 8 125579990 125579990 C T snp 4486.77 1/1 99 156 0 156 1.0 intronic rs6470252 MTSS1 AU NM_014751 exon7 c.14187+571C>T 0.624601 0.5169 0.6456 0.5385 1 T 0.0 P Uncertain 8_125580075_G->C 8 125580075 125580075 G C snp 1335.77 0/1 99 125 68 57 0.46 intronic rs13251109 MTSS1 AU NM_014751 exon8 c.15387-544G>C 0.0790735 0.1746 0.0917 0.1417 0 D 0.0 P -1.020 T 0.0 T 0.0 T Uncertain 8_125580928_A->G 8 125580928 125580928 A G snp 2155.77 1/1 99 76 0 76 1.0 intronic rs2288664 MTSS1 AU NM_014751 exon8 c.15545+151A>G 0.365415 0.3353 0.3611 0.3842 Uncertain 8_125601780_C->T 8 125601780 125601780 C T snp 665.77 0/1 99 50 27 23 0.46 intronic rs12682032 MTSS1 AU NM_014751 exon10 c.36628-80C>T 0.436502 0.5437 Uncertain 8_125602123_G->A 8 125602123 125602123 G A snp 68.77 0/1 97 9 6 3 0.33 intronic rs4871508 MTSS1 AU NM_014751 exon10 c.36720+171G>A 0.435703 0.5427 Uncertain 8_125603298_G->A 8 125603298 125603298 G A snp 80.77 0/1 99 7 3 4 0.57 intronic rs11994203 MTSS1 AU NM_014751 exon11 c.38159-93G>A 0.166134 0.1637 Uncertain 8_125711882_C->T 8 125711882 125711882 C T snp 1786.77 0/1 99 138 60 78 0.57 intronic rs72714775 MTSS1 AU NM_014751 exon12 c.146608+42C>T 0.209665 0.1845 0.204982 0.2398 0.2101 Uncertain 8_125739749_A->G 8 125739749 125739749 A G snp 1727.77 1/1 99 63 1 62 0.98 intronic rs891542 MTSS1 AU NM_014751 exon14 c.174892-375A>G 0.860823 0.8552 Uncertain 8_125877563_T->C 8 125877563 125877563 T C snp 894.77 1/1 69 35 2 33 0.94 intergenic rs13282575 MIR4662B AU 0.605831 0.622 Uncertain 8_125877610_T->C 8 125877610 125877610 T C snp 197.77 0/1 99 15 7 8 0.53 intergenic rs200208102 MIR4662B AU Uncertain 8_125877616_T->C 8 125877616 125877616 T C snp 203.78 0/1 24 11 3 8 0.73 intergenic rs188912898 MIR4662B AU Uncertain 8_125877622_T->C 8 125877622 125877622 T C snp 208.84 1/1 18 7 1 6 0.86 intergenic rs193093189 MIR4662B AU Uncertain 8_125877628_T->C 8 125877628 125877628 T C snp 222.84 1/1 18 6 0 6 1.0 intergenic rs71510322 MIR4662B AU Uncertain 8_125877634_T->C 8 125877634 125877634 T C snp 182.9 1/1 15 5 0 5 1.0 intergenic rs13282853 MIR4662B AU Uncertain 8_125877647_C->T 8 125877647 125877647 C T snp 79.77 0/1 28 4 1 3 0.75 intergenic MIR4662B AU Uncertain 8_125989698_C->T 8 125989698 125989698 C T snp 1777.77 0/1 99 170 96 74 0.44 exonic rs16900167 ZNF572 AU synonymous SNV NM_152412 exon3 c.C1188T p.S396S 0.165535 0.2113 0.111948 0.1500 0.2387 Uncertain 8_126012245_A->C 8 126012245 126012245 A C snp 3128.77 0/1 99 223 87 136 0.61 intronic rs10104486 SQLE AU NM_003129 exon1 c.291+309A>C 0.219848 0.2917 0.2533 0.2687 0.26 T 0.001 P -0.954 T Uncertain 8_126015400_-->T 8 126015400 126015400 - T indel 1195.73 ./1 99 54 4 50 0.93 intronic rs3083763 SQLE AU NM_003129 exon2 c.3772-17insT 0.179712 0.0784 0.1338 0.1322 Uncertain 8_126015400_-->TT 8 126015400 126015400 - TT indel 1195.73 ./1 99 54 4 50 0.93 intronic rs3083763 SQLE AU NM_003129 exon2 c.3772-17insTT 0.204872 0.2827 0.2529 0.3382 Uncertain 8_126019926_T->C 8 126019926 126019926 T C snp 135.03 1/1 12 4 0 4 1.0 intronic rs4870933 SQLE AU NM_003129 exon4 c.8084+197T>C 0.420527 0.3621 Uncertain 8_126021164_A->G 8 126021164 126021164 A G snp 256.77 0/1 99 34 19 15 0.44 intronic rs2288312 SQLE AU NM_003129 exon5 c.9567-48A>G 0.226438 0.2927 0.160457 0.2248 0.3544 Uncertain 8_126023638_C->T 8 126023638 126023638 C T snp 797.77 1/1 60 20 0 20 1.0 intronic rs3750234 SQLE AU NM_003129 exon7 c.12133-140C>T 0.427516 0.3621 Uncertain 8_126030724_T->C 8 126030724 126030724 T C snp 34.77 0/1 33 3 1 2 0.67 intronic rs966945 SQLE AU NM_003129 exon9 c.19227-148T>C 0.234425 0.2917 Uncertain 8_126030809_T->C 8 126030809 126030809 T C snp 809.77 1/1 60 26 0 26 1.0 intronic rs966946 SQLE AU NM_003129 exon9 c.19227-63T>C 0.503395 0.3621 Uncertain 8_126033096_T->C 8 126033096 126033096 T C snp 2248.77 0/1 99 199 95 104 0.52 exonic rs6989548 SQLE AU synonymous SNV NM_003129 exon10 c.T1515C p.P505P 0.0648962 0.0714 0.023422 0.0463 0.0745 Uncertain 8_126033195_T->C 8 126033195 126033195 T C snp 1642.77 0/1 99 124 59 65 0.52 intronic rs9297709 SQLE AU NM_003129 exon10 c.21468+82T>C 0.234225 0.2917 Uncertain 8_126034052_C->T 8 126034052 126034052 C T snp 2147.77 0/1 99 170 78 92 0.54 exonic rs2293985 SQLE AU synonymous SNV NM_003129 exon11 c.C1590T p.A530A 0.11262 0.0704 0.066025 0.0787 0.0897 Uncertain 8_126049443_T->C 8 126049443 126049443 T C snp 61.77 0/1 90 12 9 3 0.25 intronic rs2272682 KIAA0196 AU NM_014846 exon4 c.12620-35T>C 0.204473 0.0704 0.174792 0.1138 0.0755 Uncertain 8_126050879_C->T 8 126050879 126050879 C T snp 189.77 0/1 94 9 3 6 0.67 intronic rs13277078 KIAA0196 AU NM_014846 exon5 c.14213-192C>T 0.1248 0.2262 Uncertain 8_126056215_-->C 8 126056215 126056215 - C indel 7051.73 1/1 99 156 0 156 1.0 intronic rs11370883 KIAA0196 AU NM_014846 exon8 c.19375-18insC 1 1 1.0000 1 Uncertain 8_126067647_AG->- 8 126067647 126067648 AG - indel 405.73 0/1 99 30 18 12 0.4 intronic rs33981879 KIAA0196 AU NM_014846 exon13 c.30974-185_30974-184delAG 0.159944 0.0754 Uncertain 8_126067985_A->T 8 126067985 126067985 A T snp 263.77 0/1 99 18 9 9 0.5 intronic rs2303529 KIAA0196 AU NM_014846 exon13 c.31055+72A>T 0.156949 0.0704 Uncertain 8_126068011_G->A 8 126068011 126068011 G A snp 114.77 0/1 99 8 4 4 0.5 intronic rs2303528 KIAA0196 AU NM_014846 exon13 c.31055+98G>A 0.156749 0.0704 Uncertain 8_126068886_T->C 8 126068886 126068886 T C snp 1202.77 0/1 99 85 37 48 0.56 intronic rs2303522 KIAA0196 AU NM_014846 exon14 c.32060-32T>C 0.243211 0.2937 0.181762 0.2366 0.3171 Uncertain 8_126069142_T->C 8 126069142 126069142 T C snp 365.77 0/1 99 24 11 13 0.54 intronic rs2303521 KIAA0196 AU NM_014846 exon14 c.32201+83T>C 0.159145 0.0704 Uncertain 8_126071380_A->G 8 126071380 126071380 A G snp 1344.77 0/1 99 126 72 54 0.43 intronic rs3765214 KIAA0196 AU NM_014846 exon16 c.34605-83A>G 0.159345 0.0704 Uncertain 8_126071452_T->C 8 126071452 126071452 T C snp 2608.77 0/1 99 250 138 112 0.45 intronic rs3765213 KIAA0196 AU NM_014846 exon16 c.34605-11T>C 0.159145 0.0704 0.117715 0.0733 0.0731 Uncertain 8_126079772_A->T 8 126079772 126079772 A T snp 883.77 1/1 66 23 0 23 1.0 intronic rs55873854 KIAA0196 AU NM_014846 exon20 c.42975-61A>T 0.258387 0.2946 Uncertain 8_126085282_A->C 8 126085282 126085282 A C snp 113.77 0/1 99 9 5 4 0.44 intronic rs6651232 KIAA0196 AU NM_014846 exon21 c.48536-112A>C 0.157149 0.0714 Uncertain 8_126085363_T->C 8 126085363 126085363 T C snp 3289.77 1/1 99 102 0 102 1.0 intronic rs10102230 KIAA0196 AU NM_014846 exon21 c.48536-31T>C 0.49361 0.3641 0.427264 0.3914 0.3947 Uncertain 8_126085586_G->A 8 126085586 126085586 G A snp 1376.77 0/1 99 132 78 54 0.41 intronic rs12546285 KIAA0196 AU NM_014846 exon21 c.48708+20G>A 0.225439 0.2927 0.162771 0.2330 0.3191 Uncertain 8_126087057_T->C 8 126087057 126087057 T C snp 288.77 0/1 99 16 7 9 0.56 intronic rs1004350 KIAA0196 AU NM_014846 exon22 c.50381-182T>C 0.156949 0.0714 Uncertain 8_126087437_A->G 8 126087437 126087437 A G snp 144.77 0/1 99 13 8 5 0.38 intronic rs2009959 KIAA0196 AU NM_014846 exon22 c.50495+84A>G 0.156949 0.0714 Uncertain 8_126088512_G->C 8 126088512 126088512 G C snp 259.77 0/1 99 15 7 8 0.53 intronic rs4458896 KIAA0196 AU NM_014846 exon23 c.51731-77G>C 0.156949 0.0714 Uncertain 8_126090947_GTCTTAATAG->- 8 126090947 126090956 GTCTTAATAG - indel 3847.73 0/1 99 80 47 33 0.41 intronic rs11278975 KIAA0196 AU NM_014846 exon24 c.54121-32_54121-23delGTCTTAATAG 0.17492 0.0704 0.138259 0.0782 0.0770 Uncertain 8_126091094_T->C 8 126091094 126091094 T C snp 2993.77 0/1 99 243 123 120 0.49 exonic rs7812319 KIAA0196 AU synonymous SNV NM_014846 exon6 c.A597G p.P199P 0.0658946 0.0704 0.025450 0.0450 0.0763 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000117384.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 8_126091271_T->C 8 126091271 126091271 T C snp 419.77 0/1 99 21 8 13 0.62 intronic rs74415175 KIAA0196 AU NM_014846 exon24 c.54314+99T>C 0.17512 0.0704 Uncertain 8_126093700_A->G 8 126093700 126093700 A G snp 74.77 0/1 99 7 4 3 0.43 intronic rs7813244 KIAA0196 AU NM_014846 exon25 c.57044-202A>G 0.17512 0.0704 Uncertain 8_126093789_T->C 8 126093789 126093789 T C snp 902.77 0/1 99 48 16 32 0.67 intronic rs7831848 KIAA0196 AU NM_014846 exon25 c.57044-113T>C 0.17512 0.0704 Uncertain 8_126093882_G->A 8 126093882 126093882 G A snp 1486.77 0/1 99 127 64 63 0.5 intronic rs7817303 KIAA0196 AU NM_014846 exon25 c.57044-20G>A 0.108826 0.0704 0.080194 0.0599 0.0764 Uncertain 8_126094614_T->C 8 126094614 126094614 T C snp 32.77 0/1 61 12 9 3 0.25 intronic rs2384917 KIAA0196 AU NM_014846 exon26 c.57766-10T>C 0.17512 0.0704 0.139650 0.0791 0.0770 Uncertain 8_126094728_T->C 8 126094728 126094728 T C snp 180.77 0/1 99 28 18 10 0.36 intronic rs2384916 KIAA0196 AU NM_014846 exon26 c.57851+19T>C 0.173922 0.0704 0.132814 0.0783 0.0774 Uncertain 8_126095503_G->A 8 126095503 126095503 G A snp 621.77 0/1 99 68 41 27 0.4 splicing rs16900368 KIAA0196 AU NM_014846 exon27 c.58642+3G>A 0.17512 0.0704 0.139496 0.0780 0.0765 Pathogenic 8_126095868_C->A 8 126095868 126095868 C A snp 93.28 1/1 9 3 0 3 1.0 intronic rs12682006 KIAA0196 AU NM_014846 exon28 c.59096-86C>A 0.433107 0.3641 Uncertain 8_126096274_C->A 8 126096274 126096274 C A snp 40.77 0/1 69 7 4 3 0.43 intronic rs16900369 KIAA0196 AU NM_014846 exon28 c.59406+10C>A 0.175319 0.0714 Uncertain 8_126445505_G->C 8 126445505 126445505 G C snp 753.77 0/1 99 55 27 28 0.51 intronic rs13277396 TRIB1 AU NM_025195 exon2 c.2414-53G>C 0.333466 0.1657 Uncertain 8_126445537_C->T 8 126445537 126445537 C T snp 1456.77 0/1 99 97 44 53 0.55 intronic rs2235110 TRIB1 AU NM_025195 exon2 c.2414-21C>T 0.493411 0.6478 0.370809 0.3785 0.6146 Uncertain 8_126445544_C->A 8 126445544 126445544 C A snp 1473.77 0/1 99 106 47 59 0.56 intronic rs2235109 TRIB1 AU NM_025195 exon2 c.2414-14C>A 0.503594 0.6538 0.369983 0.3734 0.6253 Uncertain 8_126448497_C->T 8 126448497 126448497 C T snp 3346.77 0/1 99 250 129 121 0.48 exonic rs151032622 TRIB1 AU synonymous SNV NM_025195 exon3 c.C903T p.F301F 0.00738818 0.0129 0.000846 0.0062 0.0217 Uncertain 8_128099166_C->T 8 128099166 128099166 C T snp 207.77 0/1 99 22 14 8 0.36 ncRNA_exonic rs7007694 PRNCR1 AU 0.764577 0.7044 Uncertain 8_128099242_C->A 8 128099242 128099242 C A snp 1133.77 0/1 99 108 59 49 0.45 ncRNA_exonic rs13257371 PRNCR1 AU 0.343251 0.3492 Uncertain 8_128099269_A->G 8 128099269 128099269 A G snp 3518.77 1/1 99 127 0 127 1.0 ncRNA_exonic rs4571699 PRNCR1 AU 0.856829 0.9782 Uncertain 8_128099455_G->C 8 128099455 128099455 G C snp 400.77 0/1 99 30 16 14 0.47 ncRNA_exonic rs1840709 PRNCR1 AU 0.485024 0.3948 Uncertain 8_128099458_GTG->- 8 128099458 128099460 GTG - indel 1211.73 1/1 69 29 0 29 1.0 ncRNA_exonic rs141074814 PRNCR1 AU Uncertain 8_128428061_A->G 8 128428061 128428061 A G snp 364.78 1/1 27 14 0 14 1.0 ncRNA_intronic rs4871789 CASC8 AU 0.487819 0.6538 Uncertain 8_128428638_G->A 8 128428638 128428638 G A snp 222.84 1/1 18 7 0 7 1.0 exonic rs6998061 POU5F1B AU nonsynonymous SNV NM_001159542 exon1 c.G527A p.G176E 0.373403 0.5565 0.331581 0.4229 0.5329 0.05 T 1.000 P -0.936 T 0.878 T 0.759 P ID=CM073275;DIS=Colorectal cancer, reduced risk, association with;TAG=DP;PUB=17618284 DP Pathogenic 8_128428795_G->A 8 128428795 128428795 G A snp 954.77 1/1 72 24 0 24 1.0 exonic rs6998254 POU5F1B AU synonymous SNV NM_001159542 exon1 c.G684A p.Q228Q 0.509385 0.5982 0.5256 0.5514 Uncertain 8_128428823_G->C 8 128428823 128428823 G C snp 1548.77 1/1 99 49 0 49 1.0 exonic rs7002225 POU5F1B AU nonsynonymous SNV NM_001159542 exon1 c.G712C p.E238Q 0.484026 0.5982 0.5106 0.5498 0.06 T 1.000 P -1.005 T 1.0 D 1.0 D ID=CM073274;DIS=Colorectal cancer, association with;TAG=DP;PUB=17618284 DP Pathogenic 8_128429262_G->C 8 128429262 128429262 G C snp 1109.77 1/1 81 35 0 35 1.0 ncRNA_intronic rs9297754 CASC8 AU 0.729832 0.8264 Uncertain 8_128429315_T->A 8 128429315 128429315 T A snp 140.03 1/1 12 4 0 4 1.0 ncRNA_intronic rs9297755 CASC8 AU 0.659944 0.7857 Uncertain 8_128750413_C->G 8 128750413 128750413 C G snp 278.77 0/1 99 24 14 10 0.42 intronic rs4645958 MYC AO NM_002467 exon2 c.1654-80C>G 0.186901 0.1458 Uncertain 8_129021000_A->G 8 129021000 129021000 A G snp 917.77 1/1 69 28 0 28 1.0 ncRNA_intronic rs1863562 PVT1 AU 0.671526 0.6944 Uncertain 8_129021002_G->A 8 129021002 129021002 G A snp 456.77 0/1 99 28 13 15 0.54 ncRNA_intronic rs2033102 PVT1 AU 0.408347 0.4276 Uncertain 8_129021179_G->A 8 129021179 129021179 G A snp 3822.77 1/1 99 140 0 140 1.0 ncRNA_exonic rs2114358 MIR1206 AU 0.671526 0.6944 0.635146 0.6254 0.7147 Uncertain 8_129021262_C->T 8 129021262 129021262 C T snp 1982.77 1/1 99 67 0 67 1.0 ncRNA_intronic rs2392823 PVT1 AU 0.688299 0.6944 0.647832 Uncertain 8_129061242_A->G 8 129061242 129061242 A G snp 356.78 1/1 27 13 0 13 1.0 ncRNA_intronic rs2720660 PVT1 AU 0.721845 0.878 Uncertain 8_129162366_G->C 8 129162366 129162366 G C snp 1402.77 0/1 99 140 75 65 0.46 ncRNA_exonic rs56863230 MIR1208 AU 0.0129792 0.0615 0.000097 0.0057 0.0722 Uncertain 8_129162433_G->T 8 129162433 129162433 G T snp 1733.77 0/1 99 148 73 75 0.51 ncRNA_exonic rs2648841 MIR1208 AU 0.186302 0.4345 0.087087 0.1390 0.4141 Uncertain 8_130760850_A->G 8 130760850 130760850 A G snp 5064.77 1/1 99 187 0 187 1.0 exonic rs4144738 GSDMC AU nonsynonymous SNV NM_031415 exon14 c.T1424C p.M475T 0.707268 0.744 0.597647 0.5501 0.7467 0 D 0.0 P -1.122 T 0.997 D 0.933 D Pathogenic 8_130761030_G->C 8 130761030 130761030 G C snp 1721.77 1/1 99 61 1 60 0.98 intronic rs4144736 GSDMC AU NM_031415 exon1 c.240+44G>C 0.708067 0.745 0.597801 0.5500 0.7479 Uncertain 8_130761644_C->T 8 130761644 130761644 C T snp 1061.77 0/1 99 88 41 47 0.53 intronic rs4527833 GSDMC AU NM_031415 exon2 c.951-53C>T 0.58746 0.5159 0.573149 Uncertain 8_130762291_G->A 8 130762291 130762291 G A snp 1039.77 0/1 99 96 48 48 0.5 exonic rs77681114 GSDMC AU synonymous SNV NM_031415 exon12 c.C1158T p.N386N 0.116214 0.2569 0.028910 0.0737 0.2571 Uncertain 8_130772643_T->C 8 130772643 130772643 T C snp 50.74 1/1 6 2 0 2 1.0 intronic rs1967018 GSDMC AU NM_031415 exon9 c.12044-147T>C 0.727835 0.7272 Uncertain 8_130772882_-->GCCTGAGTCTTTCCCATA 8 130772882 130772882 - GCCTGAGTCTTTCCCATA indel 26015.7 1/1 99 145 1 144 0.99 intronic rs11276511 GSDMC AU NM_031415 exon9 c.12089+47insGCCTGAGTCTTTCCCATA 0.61242 0.7272 0.518388 0.5529 0.7156 Uncertain 8_130788548_C->T 8 130788548 130788548 C T snp 4198.77 1/1 99 150 0 150 1.0 intronic rs4733741 GSDMC AU NM_031415 exon12 c.27785+17C>T 0.634185 0.7004 0.496463 0.4446 0.7147 Uncertain 8_130789472_C->T 8 130789472 130789472 C T snp 99.28 1/1 9 3 0 3 1.0 intronic rs72718335 GSDMC AU NM_031415 exon13 c.28867-141C>T 0.178714 0.3115 Uncertain 8_130854530_T->C 8 130854530 130854530 T C snp 723.77 0/1 99 52 22 30 0.58 intronic rs76219259 FAM49B AU NM_016623 exon1 c.64+79T>C 0.00159744 0.0079 Uncertain 8_131020729_T->C 8 131020729 131020729 T C snp 1365.77 0/1 99 123 62 61 0.5 upstream rs4733757 MIR5194 AU 0.627796 0.5615 0.7333 0.25 Uncertain 8_131092026_T->A 8 131092026 131092026 T A snp 1239.77 1/1 93 37 0 37 1.0 intronic rs6415509 ASAP1 AU NM_001247996 exon5 c.25171-121T>A 0.909545 0.9673 Uncertain 8_131124559_T->C 8 131124559 131124559 T C snp 578.77 0/1 99 60 35 25 0.42 exonic rs966185 ASAP1 AU nonsynonymous SNV NM_018482 exon24 c.A2182G p.I728V 0.474441 0.7153 0.398662 0.4759 0.6880 0.78 T 0.901 P -0.982 T 0.004 T 0.004 T Pathogenic 8_131127831_T->C 8 131127831 131127831 T C snp 1069.77 0/1 99 81 45 36 0.44 intronic rs2305513 ASAP1 AU NM_001247996 exon8 c.60897-42T>C 0.447684 0.6548 0.381362 0.4543 0.6225 Uncertain 8_131128024_-->A 8 131128024 131128024 - A indel 1824.73 0/1 99 106 47 59 0.56 intronic rs3217641 ASAP1 AU NM_001247996 exon8 c.61005+43insA 0.208866 0.4683 0.141693 0.1995 0.4540 Uncertain 8_131130594_C->T 8 131130594 131130594 C T snp 413.77 0/1 99 39 24 15 0.38 intronic rs10956511 ASAP1 AU NM_001247996 exon11 c.63516+102C>T 0.419529 0.6637 Uncertain 8_131136173_-->A 8 131136173 131136173 - A indel 112.73 0/1 50 13 5 8 0.62 intronic rs34680836 ASAP1 AU NM_001247996 exon13 c.69282-85insA Uncertain 8_131165086_A->T 8 131165086 131165086 A T snp 1038.77 0/1 99 68 27 41 0.6 intronic rs3935174 ASAP1 AU NM_001247996 exon18 c.98075+35A>T 0.435503 0.6637 0.330002 0.3787 0.6469 Uncertain 8_131172792_T->- 8 131172792 131172792 T - indel 235.82 0/1 17 8 1 7 0.88 intronic rs34161158 ASAP1 AU NM_001247996 exon19 c.105234+582delT 0.538139 0.6637 Uncertain 8_131172968_C->T 8 131172968 131172968 C T snp 592.77 0/1 99 66 39 27 0.41 intronic rs10089819 ASAP1 AU NM_001247996 exon19 c.105234+758C>T 0.712859 0.7292 Uncertain 8_131173179_G->C 8 131173179 131173179 G C snp 114.77 0/1 99 9 5 4 0.44 intronic rs62524650 ASAP1 AU NM_001247996 exon19 c.105234+969G>C 0.40016 0.62 Uncertain 8_131192905_G->C 8 131192905 131192905 G C snp 793.77 0/1 99 56 26 30 0.54 intronic rs28495072 ASAP1 AU NM_001247996 exon23 c.126020-91G>C 0.735623 0.751 Uncertain 8_131193153_-->A 8 131193153 131193153 - A indel 378.73 0/1 99 61 25 36 0.59 intronic rs547611218 ASAP1 AU NM_001247996 exon23 c.126150+27insA 0.535144 0.5496 0.597300 0.5100 0.5344 Uncertain 8_131199416_T->G 8 131199416 131199416 T G snp 285.77 0/1 99 19 4 15 0.79 intronic rs72722371 ASAP1 AU NM_001247996 exon24 c.132505-65T>G 0.218051 0.4583 0.154302 Uncertain 8_131200298_-->A 8 131200298 131200298 - A indel 257.73 0/1 99 23 10 13 0.57 intronic rs113293903 ASAP1 AU NM_001247996 exon25 c.133378-56insA Uncertain 8_131226652_G->A 8 131226652 131226652 G A snp 40.77 0/1 69 5 3 2 0.4 intronic rs1469288 ASAP1 AU NM_001247996 exon26 c.159825-149G>A 0.386781 0.62 Uncertain 8_131227019_G->A 8 131227019 131227019 G A snp 185.77 0/1 99 16 9 7 0.44 intronic rs1469286 ASAP1 AU NM_001247996 exon26 c.159971+72G>A 0.213059 0.4573 Uncertain 8_131353139_T->C 8 131353139 131353139 T C snp 2434.77 0/1 99 204 103 101 0.5 intronic rs13265869 ASAP1 AU NM_001247996 exon28 c.303286-17123T>C 0.563498 0.3442 0.4597 0.3529 Uncertain 8_131373887_C->G 8 131373887 131373887 C G snp 2791.77 0/1 99 224 107 117 0.52 intronic rs10091130 ASAP1 AU NM_001247996 exon29 c.306939-28C>G 0.796126 0.5377 0.7720 0.5101 Uncertain 8_131812899_G->T 8 131812899 131812899 G T snp 695.77 1/1 51 22 0 22 1.0 intronic rs263237 ADCY8 AU NM_001115 exon4 c.20183+81G>T 0.614417 0.6022 Uncertain 8_131848465_A->G 8 131848465 131848465 A G snp 1512.77 1/1 99 57 0 57 1.0 intronic rs2259296 ADCY8 AU NM_001115 exon7 c.55887-57A>G 0.860224 0.8304 Uncertain 8_131880292_T->A 8 131880292 131880292 T A snp 178.9 1/1 15 5 0 5 1.0 intronic rs7838092 ADCY8 AU NM_001115 exon10 c.87557+100T>A 0.175719 0.2639 Uncertain 8_131897082_A->G 8 131897082 131897082 A G snp 1194.77 1/1 87 37 0 37 1.0 intronic rs4128982 ADCY8 AU NM_001115 exon11 c.104372+75A>G 0.747204 0.8581 Uncertain 8_131916318_A->G 8 131916318 131916318 A G snp 1634.77 0/1 99 120 57 63 0.53 intronic rs11781997 ADCY8 AU NM_001115 exon12 c.123653+30A>G 0.4373 0.622 0.462556 0.5236 0.6240 Uncertain 8_131916375_G->- 8 131916375 131916375 G - indel 609.73 0/1 99 43 21 22 0.51 intronic rs76542596 ADCY8 AU NM_001115 exon12 c.123653+87delG 0.4373 0.622 Uncertain 8_131921956_A->G 8 131921956 131921956 A G snp 2285.77 0/1 99 200 102 98 0.49 exonic rs12547243 ADCY8 AU synonymous SNV NM_001115 exon6 c.T1638C p.P546P 0.544728 0.6815 0.573581 0.6348 0.6891 Uncertain 8_132002576_G->A 8 132002576 132002576 G A snp 1632.77 1/1 99 58 0 58 1.0 intronic rs1329803 ADCY8 AU NM_001115 exon17 c.210003-62G>A 0.697085 0.8651 Uncertain 8_132916459_T->C 8 132916459 132916459 T C snp 151.77 0/1 99 18 11 7 0.39 UTR5 rs28627763 EFR3A AU 0.482228 0.621 Uncertain 8_132936405_C->T 8 132936405 132936405 C T snp 1008.77 0/1 99 105 59 46 0.44 intronic rs7015042 EFR3A AU NM_015137 exon2 c.36186-16340C>T 0.0758786 0.1329 0.0231 0.1641 Uncertain 8_132958609_A->T 8 132958609 132958609 A T snp 298.77 0/1 84 12 3 9 0.75 intronic rs9297837 EFR3A AU NM_015137 exon4 c.42170-120A>T 0.393371 0.625 Uncertain 8_132980709_G->A 8 132980709 132980709 G A snp 889.77 0/1 99 69 32 37 0.54 intronic rs6471017 EFR3A AU NM_015137 exon9 c.64118+32G>A 0.922923 0.9335 0.874039 0.8632 0.9345 Uncertain 8_133008823_G->A 8 133008823 133008823 G A snp 200.77 0/1 99 33 22 11 0.33 intronic rs2270873 EFR3A AU NM_015137 exon19 c.92185+79G>A 0.901757 0.9345 Uncertain 8_133015134_T->C 8 133015134 133015134 T C snp 65.77 0/1 94 11 8 3 0.27 intronic rs76514018 EFR3A AU NM_015137 exon21 c.98394+181T>C 0.00838658 0.0417 Uncertain 8_133023163_G->C 8 133023163 133023163 G C snp 1857.77 0/1 99 176 98 78 0.44 UTR3 rs4736529 EFR3A AU 0.902356 0.9355 0.856121 0.8593 0.9352 Uncertain 8_133037144_G->T 8 133037144 133037144 G T snp 293.77 0/1 99 17 8 9 0.53 intronic rs7812433 OC90 AU NM_001080399 exon1 c.296+121G>T 0.500599 0.6567 Uncertain 8_133041176_GGAA->- 8 133041176 133041179 GGAA - indel 996.73 1/1 45 41 6 35 0.85 intronic rs766193601 OC90 AU NM_001080399 exon2 c.4592-143_4592-140delGGAA Uncertain 8_133041242_C->G 8 133041242 133041242 C G snp 3579.77 1/1 99 119 0 119 1.0 intronic rs6471026 OC90 AU NM_001080399 exon2 c.4592-77C>G 0.743411 0.7748 Uncertain 8_133045176_A->G 8 133045176 133045176 A G snp 56.74 1/1 6 2 0 2 1.0 intronic rs1995315 OC90 AU NM_001080399 exon4 c.8558-109A>G 0.743011 0.7748 Uncertain 8_133045480_C->T 8 133045480 133045480 C T snp 3274.77 1/1 99 119 0 119 1.0 intronic rs2202068 OC90 AU NM_001080399 exon4 c.8684+69C>T 0.846845 0.9256 Uncertain 8_133046927_T->C 8 133046927 133046927 T C snp 4305.77 1/1 99 154 0 154 1.0 intronic rs6471028 OC90 AU NM_001080399 exon5 c.10300-100T>C 0.742212 0.7748 Uncertain 8_133046977_A->G 8 133046977 133046977 A G snp 5576.77 1/1 99 206 0 206 1.0 intronic rs7834841 OC90 AU NM_001080399 exon5 c.10300-50A>G 0.701677 0.7728 0.691589 Uncertain 8_133047071_G->A 8 133047071 133047071 G A snp 1571.77 0/1 99 154 80 74 0.48 exonic rs11779306 OC90 AU synonymous SNV NM_001080399 exon10 c.C690T p.H230H 0.261382 0.2629 0.280686 0.3125 0.2658 Uncertain 8_133048593_C->T 8 133048593 133048593 C T snp 1751.77 0/1 99 153 78 75 0.49 intronic rs1472571 OC90 AU NM_001080399 exon6 c.12957-1091C>T 0.36901 0.5099 0.322941 0.3880 0.5020 Uncertain 8_133048619_T->C 8 133048619 133048619 T C snp 4780.77 1/1 99 175 0 175 1.0 intronic rs7461611 OC90 AU NM_001080399 exon6 c.12957-1065T>C 0.732228 0.7728 0.718927 0.7289 0.7671 Uncertain 8_133049810_A->G 8 133049810 133049810 A G snp 1772.77 1/1 99 63 0 63 1.0 intronic rs6992506 OC90 AU NM_001080399 exon6 c.13008+75A>G 0.743411 0.7738 0.722952 Uncertain 8_133050900_A->G 8 133050900 133050900 A G snp 56.74 1/1 6 2 0 2 1.0 intronic rs871959 OC90 AU NM_001080399 exon7 c.14309-136A>G 0.646565 0.75 Uncertain 8_133051551_C->T 8 133051551 133051551 C T snp 182.77 0/1 99 9 3 6 0.67 intronic rs2102103 OC90 AU NM_001080399 exon8 c.14643+181C>T 0.368211 0.5069 Uncertain 8_133053188_C->T 8 133053188 133053188 C T snp 305.77 0/1 99 24 10 14 0.58 intronic rs2334791 OC90 AU NM_001080399 exon9 c.16563-102C>T 0.367812 0.505 Uncertain 8_133053309_T->C 8 133053309 133053309 T C snp 2868.77 1/1 99 117 0 117 1.0 exonic rs7386782 OC90 AU nonsynonymous SNV NM_001080399 exon6 c.A439G p.S147G 0.73762 0.7728 0.727733 0.7287 0.7654 0.45 T 0.0 P -1.035 T 0.001 T 0.001 T Pathogenic 8_133053318_T->C 8 133053318 133053318 T C snp 2947.77 1/1 99 120 0 120 1.0 exonic rs7386783 OC90 AU nonsynonymous SNV NM_001080399 exon6 c.A430G p.N144D 0.73742 0.7728 0.727896 0.7287 0.7654 0.96 T 0.0 P -0.964 T 0.0 T 0.002 T Pathogenic 8_133053714_G->A 8 133053714 133053714 G A snp 1459.77 1/1 99 46 0 46 1.0 intronic rs1466884 OC90 AU NM_001080399 exon10 c.17044-57G>A 0.646765 0.749 Uncertain 8_133058325_A->G 8 133058325 133058325 A G snp 177.77 0/1 99 15 9 6 0.4 intronic rs6998359 OC90 AU NM_001080399 exon12 c.21403+195A>G 0.407348 0.5069 Uncertain 8_133067315_G->A 8 133067315 133067315 G A snp 2601.77 1/1 99 97 0 97 1.0 UTR5 rs4736538 OC90 AU 0.486621 0.3829 0.593298 0.5745 0.3825 0.09 T 0.001 P -0.984 T Uncertain 8_133089975_A->G 8 133089975 133089975 A G snp 1267.77 0/1 99 98 50 48 0.49 exonic rs2280851 HHLA1 AU nonsynonymous SNV NM_001145095 exon11 c.T1169C p.L390S 0.745407 0.6706 0.760403 0.7642 0.6339 0.73 T 0.0 P -1.010 T 0.0 T 0.0 T Pathogenic 8_133116109_G->A 8 133116109 133116109 G A snp 56.74 1/1 6 2 0 2 1.0 intronic rs2469645 HHLA1 AU NM_001145095 exon15 c.40113-245G>A 0.827875 0.7827 Uncertain 8_133152105_T->C 8 133152105 133152105 T C snp 37.77 0/1 66 6 4 2 0.33 intronic rs1549849 KCNQ3 AD NM_004519 exon5 c.10814-217T>C 0.8752 0.7222 Uncertain 8_133175736_T->C 8 133175736 133175736 T C snp 937.77 0/1 99 82 38 44 0.54 exonic rs2303995 KCNQ3 AD nonsynonymous SNV NM_004519 exon9 c.A1241G p.E414G 0.0465256 0.1627 0.015993 0.0341 0.1739 0.07 T 0.728 P -0.485 T 0.118 T 0.05 T CLINSIG=non-pathogenic|probable-non-pathogenic|non-pathogenic;CLNDBN=Benign_familial_neonatal_seizures_2|not_specified|not_provided;CLNREVSTAT=no_assertion_criteria_provided|no_assertion_criteria_provided|criteria_provided\x2c_single_submitter;CLNACC=RCV000020595.1|RCV000117352.2|RCV000126486.1;CLNDSDB=GeneReviews:GeneReviews:MedGen:OMIM:Orphanet|MedGen|MedGen;CLNDSDBID=NBK201978:NBK32534:C1852581:121201:ORPHA1949|CN169374|CN221809 Pathogenic 8_133175971_G->C 8 133175971 133175971 G C snp 119.77 0/1 99 8 3 5 0.63 intronic rs893391 KCNQ3 AD NM_004519 exon7 c.34233+230G>C 0.874201 0.6825 Uncertain 8_133492921_C->A 8 133492921 133492921 C A snp 140.77 0/1 99 18 11 7 0.39 UTR5 rs28606540 KCNQ3 AD 0.227436 0.3661 Uncertain 8_133634814_C->T 8 133634814 133634814 C T snp 3595.77 0/1 99 250 119 131 0.52 intronic rs2272681 LRRC6 AR NM_012472 exon6 c.50303-42C>T 0.48143 0.2827 0.552130 0.4153 0.2885 Uncertain 8_133637659_G->A 8 133637659 133637659 G A snp 2051.77 0/1 99 188 96 92 0.49 exonic rs2293979 LRRC6 AR nonsynonymous SNV NM_012472 exon6 c.C695T p.T232I 0.486222 0.2827 0.558204 0.4191 0.2882 0.23 T 0.0 P -1.000 T 0.0 T 0.0 T Pathogenic 8_133700036_T->C 8 133700036 133700036 T C snp 1012.77 0/1 99 78 43 35 0.45 intergenic rs3857933 LRRC6 AR 0.595248 0.6121 Uncertain 8_133700185_G->A 8 133700185 133700185 G A snp 52.74 1/1 6 2 0 2 1.0 intergenic rs3857934 LRRC6 AR 0.587061 0.6111 Uncertain 8_133723166_A->G 8 133723166 133723166 A G snp 4713.77 1/1 99 176 0 176 1.0 UTR3 rs1895807 TMEM71 AU 0.578874 0.5992 0.595725 0.4784 0.6167 0 D 0.0 P -1.047 T Uncertain 8_133723404_C->T 8 133723404 133723404 C T snp 77.77 0/1 99 6 3 3 0.5 intronic rs79735675 TMEM71 AU NM_001145153 exon1 c.16+176C>T 0.00519169 0.0099 Uncertain 8_133740239_A->G 8 133740239 133740239 A G snp 392.77 0/1 99 26 11 15 0.58 intronic rs71526264 TMEM71 AU NM_144649 exon5 c.17020+7A>G 0.167931 0.373 0.111795 0.1264 0.3737 Uncertain 8_133740260_GTGTGTGT->- 8 133740260 133740267 GTGTGTGT - indel 433.73 0/1 99 20 6 14 0.7 intronic rs199725105 TMEM71 AU NM_144649 exon5 c.17020+28_17020+35delGTGTGTGT 0.1399 0.2853 Uncertain 8_133764263_G->A 8 133764263 133764263 G A snp 91.77 0/1 99 20 15 5 0.25 intronic rs2467986 TMEM71 AU NM_001145153 exon6 c.41031+20G>A 0.292532 0.3125 0.316316 0.3216 0.3418 Uncertain 8_133769625_T->C 8 133769625 133769625 T C snp 323.77 0/1 99 44 32 12 0.27 intronic rs11778229 TMEM71 AU NM_001145153 exon7 c.46328+85T>C 0.276558 0.2252 Uncertain 8_133880212_G->A 8 133880212 133880212 G A snp 135.03 1/1 12 4 0 4 1.0 intronic rs180202 TG AR,AU NM_003235 exon2 c.1114-147G>A 0.724042 0.6687 Uncertain 8_133880334_T->C 8 133880334 133880334 T C snp 2122.77 1/1 99 76 0 76 1.0 intronic rs180203 TG AR,AU NM_003235 exon2 c.1114-25T>C 0.997204 1 0.993080 0.9949 1 Uncertain 8_133885554_T->C 8 133885554 133885554 T C snp 559.77 1/1 42 16 0 16 1.0 intronic rs180210 TG AR,AU NM_003235 exon5 c.6221+88T>C 0.588259 0.6687 Uncertain 8_133900252_T->G 8 133900252 133900252 T G snp 2794.77 0/1 99 214 99 115 0.54 exonic rs180223 TG AR,AU nonsynonymous SNV NM_003235 exon10 c.T2200G p.S734A 0.676318 0.7758 0.589266 0.5870 0.7609 1 T 0.001 P -0.936 T 0.0 T 0.0 T CLINSIG=other;CLNDBN=Autoimmune_thyroid_disease_3;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000013534.1;CLNDSDB=MedGen:OMIM;CLNDSDBID=C1842444:608175 Pathogenic 8_133900386_T->C 8 133900386 133900386 T C snp 2772.77 0/1 99 238 127 111 0.47 exonic rs2069550 TG AR,AU synonymous SNV NM_003235 exon10 c.T2334C p.P778P 0.672724 0.7758 0.586499 0.5829 0.7609 Uncertain 8_133909974_A->G 8 133909974 133909974 A G snp 967.77 0/1 99 85 45 40 0.47 exonic rs853326 TG AR,AU nonsynonymous SNV NM_003235 exon12 c.A3082G p.M1028V 0.67492 0.7758 0.588651 0.5842 0.7598 1 T 0.0 P -0.967 T 0.0 T 0.0 T CLINSIG=other;CLNDBN=Autoimmune_thyroid_disease_3;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000013535.1;CLNDSDB=MedGen:OMIM;CLNDSDBID=C1842444:608175 Pathogenic 8_133947859_A->G 8 133947859 133947859 A G snp 464.77 1/1 36 13 0 13 1.0 intronic rs2739062 TG AR,AU NM_003235 exon25 c.68755-141A>G 0.997005 1 Uncertain 8_133984058_C->T 8 133984058 133984058 C T snp 1918.77 0/1 99 176 84 92 0.52 exonic rs2076740 TG AR,AU nonsynonymous SNV NM_003235 exon33 c.C5995T p.R1999W 0.332468 0.1627 0.391742 0.3226 0.1707 0.12 T 0.0 P -0.907 T 0.025 T 0.006 T CLINSIG=other;CLNDBN=Autoimmune_thyroid_disease_3;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000013533.1;CLNDSDB=MedGen:OMIM;CLNDSDBID=C1842444:608175 ID=CM035973;DIS=Autoimmune thyroid disease, association with;TAG=DP;PUB=14657345 DP Pathogenic 8_133984822_T->- 8 133984822 133984822 T - indel 267.73 0/1 87 32 14 18 0.56 intronic rs200806225 TG AR,AU NM_003235 exon34 c.105597-20delT 0.0656 0.2203 Uncertain 8_133985115_A->G 8 133985115 133985115 A G snp 172.79 0/1 22 9 1 8 0.89 intronic rs1403486 TG AR,AU NM_003235 exon34 c.105741+129A>G 0.482628 0.1915 Uncertain 8_133995475_A->G 8 133995475 133995475 A G snp 361.77 0/1 99 28 16 12 0.43 intronic rs10105779 TG AR,AU NM_003235 exon35 c.116349-119A>G 0.485224 0.1984 Uncertain 8_133995849_T->C 8 133995849 133995849 T C snp 155.77 0/1 99 9 4 5 0.56 intronic rs10095925 TG AR,AU NM_003235 exon35 c.116412+192T>C 0.486022 0.1984 Uncertain 8_134052220_ACACAT->- 8 134052220 134052225 ACACAT - indel 7533.73 1/1 99 105 0 105 1.0 intronic rs113099362 SLA AU NM_006748 exon2 c.1474-22_1474-17delACACAT 0.2739 0.375 Uncertain 8_134057102_G->A 8 134057102 134057102 G A snp 508.77 1/1 39 14 0 14 1.0 intronic rs2256366 SLA AU NM_006748 exon3 c.6460-126G>A 0.255192 0.4802 Uncertain 8_134062266_A->G 8 134062266 134062266 A G snp 2848.77 1/1 99 91 0 91 1.0 intronic rs2687836 SLA AU NM_006748 exon5 c.11465+33A>G 0.275958 0.5288 0.117946 0.2166 0.5258 Uncertain 8_134062327_T->G 8 134062327 134062327 T G snp 1017.77 1/1 75 32 0 32 1.0 intronic rs2702972 SLA AU NM_006748 exon5 c.11465+94T>G 0.278554 0.5288 Uncertain 8_134062331_G->A 8 134062331 134062331 G A snp 1047.77 1/1 78 32 0 32 1.0 intronic rs2741194 SLA AU NM_006748 exon5 c.11465+98G>A 0.269569 0.4851 Uncertain 8_134062912_A->G 8 134062912 134062912 A G snp 2644.77 1/1 99 72 0 72 1.0 intronic rs2252807 SLA AU NM_006748 exon6 c.12292-148A>G 0.778954 0.7718 Uncertain 8_134225068_T->C 8 134225068 134225068 T C snp 296.78 1/1 24 10 0 10 1.0 intronic rs10089461 WISP1 AU NM_080838 exon2 c.21719-38T>C 0.489816 0.6022 0.462523 0.5330 0.6276 Uncertain 8_134225396_-->C 8 134225396 134225396 - C indel 6414.73 1/1 99 165 0 165 1.0 intronic rs55733525 WISP1 AU NM_080838 exon2 c.21999+10insC 1 1 1.0000 1 Uncertain 8_134225434_T->C 8 134225434 134225434 T C snp 3224.61 1/1 99 109 0 109 1.0 intronic rs13258091 WISP1 AU NM_080838 exon2 c.21999+48T>C 1 1 1 1 Uncertain 8_134237578_G->C 8 134237578 134237578 G C snp 950.77 1/1 69 31 0 31 1.0 intronic rs2280834 WISP1 AU NM_080838 exon3 c.34245-54G>C 0.563698 0.6438 Uncertain 8_134251449_T->C 8 134251449 134251449 T C snp 1185.77 1/1 87 35 0 35 1.0 intronic rs2929976 NDRG1 AR NM_006096 exon1 c.242+87T>C 1 1 Uncertain 8_134254051_A->G 8 134254051 134254051 A G snp 264.8 1/1 21 7 0 7 1.0 intronic rs2272646 NDRG1 AR NM_006096 exon2 c.3145-214A>G 0.84984 0.7153 Uncertain 8_134256790_A->C 8 134256790 134256790 A C snp 220.84 1/1 18 6 0 6 1.0 intronic rs2929980 NDRG1 AR NM_006096 exon3 c.5513+157A>C 1 1 Uncertain 8_134258711_A->G 8 134258711 134258711 A G snp 1143.77 1/1 84 35 0 35 1.0 intronic rs2233339 NDRG1 AR NM_006096 exon4 c.7738-147A>G 0.33746 0.5784 Uncertain 8_134262532_T->C 8 134262532 134262532 T C snp 1240.77 1/1 90 39 0 39 1.0 intronic rs2272648 NDRG1 AR NM_006096 exon7 c.11562-150T>C 0.329473 0.5764 Uncertain 8_134274226_C->G 8 134274226 134274226 C G snp 4878.77 1/1 99 180 0 180 1.0 intronic rs2233324 NDRG1 AR NM_006096 exon12 c.23169-63C>G 0.907748 0.999 Uncertain 8_134292288_T->C 8 134292288 134292288 T C snp 478.77 1/1 36 12 0 12 1.0 intronic rs2977507 NDRG1 AR NM_006096 exon14 c.41354-186T>C 1 1 Uncertain 8_134314369_A->G 8 134314369 134314369 A G snp 99.28 1/1 9 3 0 3 1.0 intergenic rs2976580 NDRG1 AR 0.952476 0.999 Uncertain 8_134474148_C->T 8 134474148 134474148 C T snp 2272.77 0/1 99 182 81 101 0.55 exonic rs1048479 ST3GAL1 AU synonymous SNV NM_003033 exon8 c.G819A p.S273S 0.479633 0.4375 0.450331 0.4992 0.4440 Uncertain 8_134475820_C->T 8 134475820 134475820 C T snp 250.77 0/1 99 18 9 9 0.5 intronic rs2075823 ST3GAL1 AU NM_003033 exon3 c.3696+118C>T 0.28135 0.5536 Uncertain 8_135522224_T->C 8 135522224 135522224 T C snp 1612.77 0/1 99 128 56 72 0.56 intronic ZFAT AU NM_001289394 exon2 c.31268+232T>C Uncertain 8_135600794_C->G 8 135600794 135600794 C G snp 52.74 1/1 6 2 0 2 1.0 intronic rs2277140 ZFAT AU NM_001289394 exon8 c.109914+156C>G 0.135982 0.3403 Uncertain 8_135602421_C->A 8 135602421 135602421 C A snp 272.8 1/1 21 10 0 10 1.0 intronic rs3739426 ZFAT AU NM_001289394 exon9 c.111786-89C>A 0.146765 0.3383 Uncertain 8_135611945_A->C 8 135611945 135611945 A C snp 2365.77 1/1 99 90 0 90 1.0 ncRNA_intronic rs1036819 ZFAT-AS1 AU 0.151358 0.3452 Uncertain 8_135612595_A->G 8 135612595 135612595 A G snp 2099.77 1/1 99 67 0 67 1.0 ncRNA_exonic rs894343 ZFAT-AS1 AU 0.783347 0.9067 0.731351 0.7532 0.9142 Uncertain 8_135614705_A->G 8 135614705 135614705 A G snp 7964.77 1/1 99 250 0 250 1.0 exonic rs3739423 ZFAT AU synonymous SNV NM_020863 exon6 c.T1257C p.R419R 0.796326 0.9028 0.745945 0.7616 0.9147 Uncertain 8_136303595_G->A 8 136303595 136303595 G A snp 600.77 0/1 99 38 17 21 0.55 ncRNA_exonic rs75023938 LINC01591 AU 0.101038 0.2232 0.0781 0.3209 Uncertain 8_136306291_G->C 8 136306291 136306291 G C snp 40.77 0/1 33 3 1 2 0.67 ncRNA_intronic rs4344113 LINC01591 AU 0.667133 0.6399 Uncertain 8_136560952_A->G 8 136560952 136560952 A G snp 969.77 1/1 72 30 0 30 1.0 intronic rs12545587 KHDRBS3 AU NM_006558 exon4 c.90887-44A>G 0.563299 0.7817 0.522566 0.6457 0.8184 Uncertain 8_136561153_A->G 8 136561153 136561153 A G snp 3491.77 1/1 99 130 0 130 1.0 intronic rs11166602 KHDRBS3 AU NM_006558 exon4 c.91034+10A>G 0.586462 0.7827 0.546209 0.6440 0.7945 Uncertain 8_136657198_T->C 8 136657198 136657198 T C snp 420.77 1/1 33 13 0 13 1.0 intronic rs4243846 KHDRBS3 AU NM_006558 exon8 c.187192-103T>C 0.906949 0.9931 Uncertain 8_136657534_G->A 8 136657534 136657534 G A snp 228.84 1/1 18 10 0 10 1.0 intronic rs4373553 KHDRBS3 AU NM_006558 exon8 c.187251+174G>A 0.763778 0.9583 Uncertain 8_136659195_C->T 8 136659195 136659195 C T snp 1956.77 0/1 99 154 72 82 0.53 intronic rs28621864 KHDRBS3 AU NM_006558 exon9 c.189126-40C>T 0.389776 0.4524 0.375596 0.4596 0.4254 Uncertain 8_136659426_G->A 8 136659426 136659426 G A snp 880.77 1/1 66 31 0 31 1.0 UTR3 rs3184618 KHDRBS3 AU 0.905751 0.9921 Uncertain 8_139149510_A->C 8 139149510 139149510 A C snp 7496.77 1/1 99 249 0 249 1.0 intronic rs6577877 FAM135B AU NM_015912 exon2 c.4668+7A>C 0.892772 0.997 0.794504 0.8184 0.9995 Uncertain 8_139158169_G->T 8 139158169 139158169 G T snp 1157.77 1/1 84 38 0 38 1.0 intronic rs2280849 FAM135B AU NM_015912 exon6 c.13366-32G>T 0.166134 0.2361 0.111948 0.1168 0.2274 Uncertain 8_139158317_T->C 8 139158317 139158317 T C snp 2981.77 1/1 99 114 0 114 1.0 intronic rs7006664 FAM135B AU NM_015912 exon6 c.13458+24T>C 0.895567 0.997 0.796325 0.8196 0.9995 Uncertain 8_139160592_T->C 8 139160592 139160592 T C snp 54.74 1/1 6 2 0 2 1.0 intronic rs6577878 FAM135B AU NM_015912 exon7 c.15927-170T>C 0.174521 0.2282 Uncertain 8_139189502_T->A 8 139189502 139189502 T A snp 2118.77 1/1 99 74 0 74 1.0 intronic rs6985633 FAM135B AU NM_015912 exon10 c.44754-87T>A 0.811502 0.9812 Uncertain 8_139190943_-->A 8 139190943 139190943 - A indel 392.73 0/1 99 52 32 20 0.38 intronic rs398113083 FAM135B AU NM_015912 exon11 c.46098+10insA 0.232228 0.2063 0.275925 0.2655 0.2151 Uncertain 8_139190957_T->G 8 139190957 139190957 T G snp 1320.77 1/1 96 47 0 47 1.0 intronic rs4909747 FAM135B AU NM_015912 exon11 c.46098+24T>G 0.804513 0.9812 0.668579 0.6782 0.9843 Uncertain 8_139263328_A->T 8 139263328 139263328 A T snp 114.77 0/1 99 8 4 4 0.5 intronic rs4909765 FAM135B AU NM_015912 exon15 c.118422+71A>T 0.386581 0.6399 Uncertain 8_139269052_A->G 8 139269052 139269052 A G snp 836.77 0/1 99 91 54 37 0.41 intronic rs1512403 FAM135B AU NM_015912 exon16 c.124167+50A>G 0.220647 0.2738 0.247517 0.2979 0.2785 Uncertain 8_139321179_A->G 8 139321179 139321179 A G snp 1856.77 0/1 99 180 96 84 0.47 intronic rs6577909 FAM135B AU NM_015912 exon18 c.178248-1904A>G 0.476837 0.3224 0.5460 0.2879 Uncertain 8_139323246_A->G 8 139323246 139323246 A G snp 367.77 0/1 99 31 15 16 0.52 intronic rs3934023 FAM135B AU NM_015912 exon18 c.178328+83A>G 0.91853 0.8919 Uncertain 8_139380103_-->ACAC 8 139380103 139380103 - ACAC indel 1156.73 0/1 99 48 23 25 0.52 intronic rs150136153 FAM135B AU NM_015912 exon19 c.235314-46insACAC Uncertain 8_139614436_G->A 8 139614436 139614436 G A snp 2132.77 1/1 99 76 1 75 0.99 intronic rs4394401 COL22A1 AU NM_152888 exon6 c.12907+34G>A 0.844449 0.8135 0.891742 0.8869 0.7946 Uncertain 8_139614582_C->T 8 139614582 139614582 C T snp 176.9 1/1 15 5 0 5 1.0 intronic rs6993225 COL22A1 AU NM_152888 exon6 c.12907+180C>T 0.829073 0.8135 Uncertain 8_139617046_A->C 8 139617046 139617046 A C snp 1113.77 0/1 99 119 69 50 0.42 intronic rs12546923 COL22A1 AU NM_152888 exon7 c.15517+34A>C 0.559904 0.6984 0.630709 0.6840 0.6633 Uncertain 8_139617247_G->A 8 139617247 139617247 G A snp 111.77 0/1 99 11 7 4 0.36 intronic rs12549170 COL22A1 AU NM_152888 exon7 c.15517+235G>A 0.516773 0.6994 Uncertain 8_139618754_T->C 8 139618754 139618754 T C snp 1749.77 0/1 99 180 100 80 0.44 intronic rs4471041 COL22A1 AU NM_152888 exon8 c.17200+59T>C 0.594649 0.6994 0.673456 Uncertain 8_139620049_T->G 8 139620049 139620049 T G snp 356.77 0/1 99 16 4 12 0.75 intronic rs12681582 COL22A1 AU NM_152888 exon9 c.18683-129T>G 0.559505 0.6984 Uncertain 8_139620267_G->A 8 139620267 139620267 G A snp 1233.77 0/1 99 134 72 62 0.46 intronic rs11166829 COL22A1 AU NM_152888 exon9 c.18737+35G>A 0.559704 0.6984 0.630940 0.6857 0.6659 Uncertain 8_139626176_C->G 8 139626176 139626176 C G snp 1090.77 1/1 78 37 0 37 1.0 intronic rs7000261 COL22A1 AU NM_152888 exon10 c.24668+13C>G 0.858227 0.8115 0.903506 0.8892 0.7948 Uncertain 8_139631650_A->G 8 139631650 139631650 A G snp 780.77 1/1 57 25 0 25 1.0 intronic rs7009396 COL22A1 AU NM_152888 exon13 c.30202-47A>G 0.741613 0.7788 0.770337 0.8032 0.7550 Uncertain 8_139635883_A->C 8 139635883 139635883 A C snp 2131.77 1/1 99 74 0 74 1.0 intronic rs7836250 COL22A1 AU NM_152888 exon14 c.34479-91A>C 0.776158 0.8016 Uncertain 8_139635920_T->A 8 139635920 139635920 T A snp 2697.77 1/1 99 107 0 107 1.0 intronic rs7839790 COL22A1 AU NM_152888 exon14 c.34479-54T>A 0.751997 0.8016 0.812308 Uncertain 8_139638307_T->C 8 139638307 139638307 T C snp 182.9 1/1 15 5 0 5 1.0 intronic rs3924860 COL22A1 AU NM_152888 exon15 c.36937-125T>C 0.679113 0.7798 Uncertain 8_139646998_T->C 8 139646998 139646998 T C snp 90.28 1/1 9 3 0 3 1.0 intronic rs7003632 COL22A1 AU NM_152888 exon17 c.45757-254T>C 0.872404 0.996 Uncertain 8_139647262_A->G 8 139647262 139647262 A G snp 1347.77 0/1 99 119 55 64 0.54 exonic rs10091563 COL22A1 AU synonymous SNV NM_152888 exon49 c.T3600C p.P1200P 0.709864 0.8998 0.734661 0.7918 0.8953 Uncertain 8_139648775_A->C 8 139648775 139648775 A C snp 158.9 1/1 15 6 0 6 1.0 intronic rs11783256 COL22A1 AU NM_152888 exon18 c.47489-209A>C Uncertain 8_139648892_G->A 8 139648892 139648892 G A snp 2688.77 1/1 99 91 0 91 1.0 intronic rs11166830 COL22A1 AU NM_152888 exon18 c.47489-92G>A 0.886382 0.996 Uncertain 8_139649164_T->C 8 139649164 139649164 T C snp 152.77 0/1 99 8 3 5 0.63 intronic rs80196025 COL22A1 AU NM_152888 exon18 c.47543+126T>C 0.103634 0.0665 Uncertain 8_139658747_C->T 8 139658747 139658747 C T snp 532.77 0/1 99 44 22 22 0.5 intronic rs4909439 COL22A1 AU NM_152888 exon19 c.57376-124C>T 0.78754 0.8998 Uncertain 8_139668032_T->C 8 139668032 139668032 T C snp 960.77 0/1 99 64 29 35 0.55 intronic rs11166832 COL22A1 AU NM_152888 exon21 c.66644-107T>C 0.504792 0.7302 Uncertain 8_139668300_C->T 8 139668300 139668300 C T snp 1681.77 0/1 99 135 64 71 0.53 intronic rs12675091 COL22A1 AU NM_152888 exon21 c.66692+113C>T 0.546725 0.7173 Uncertain 8_139672602_T->C 8 139672602 139672602 T C snp 623.77 0/1 99 43 22 21 0.49 intronic rs4072506 COL22A1 AU NM_152888 exon22 c.71183-76T>C 0.751198 0.7708 0.855891 Uncertain 8_139688646_A->G 8 139688646 139688646 A G snp 40.84 0/1 18 3 1 2 0.67 intronic rs375797295 COL22A1 AU NM_152888 exon25 c.87305-154A>G Uncertain 8_139688697_A->G 8 139688697 139688697 A G snp 572.77 0/1 99 27 7 20 0.74 intronic rs7837674 COL22A1 AU NM_152888 exon25 c.87305-103A>G Uncertain 8_139691996_GTTA->- 8 139691996 139691999 GTTA - indel 4730.73 0/1 99 185 98 87 0.47 intronic rs140389566 COL22A1 AU NM_152888 exon26 c.90424+77_90424+80delGTTA 0.208866 0.1558 Uncertain 8_139696503_AA->- 8 139696503 139696504 AA - indel 676.73 ./1 99 29 0 29 1.0 intronic rs111396507 COL22A1 AU NM_152888 exon27 c.95172-164_95172-163delAA 0.233826 0.1419 Uncertain 8_139696503_A->- 8 139696503 139696503 A - indel 676.73 ./1 99 29 0 29 1.0 intronic rs575304794 COL22A1 AU NM_152888 exon27 c.95172-164delA 0.341653 0.2907 Uncertain 8_139696635_T->C 8 139696635 139696635 T C snp 3456.77 1/1 99 136 1 135 0.99 intronic rs4506262 COL22A1 AU NM_152888 exon27 c.95172-32T>C 0.985224 1 0.989620 0.9961 1 Uncertain 8_139697286_T->C 8 139697286 139697286 T C snp 253.77 0/1 99 17 9 8 0.47 intronic rs11787153 COL22A1 AU NM_152888 exon28 c.95955-164T>C 0.167532 0.0466 Uncertain 8_139700911_A->G 8 139700911 139700911 A G snp 178.9 1/1 15 5 0 5 1.0 intronic rs4909443 COL22A1 AU NM_152888 exon29 c.99664-248A>G 0.457069 0.2143 Uncertain 8_139701209_G->T 8 139701209 139701209 G T snp 2238.77 1/1 99 88 0 88 1.0 exonic rs4909444 COL22A1 AU nonsynonymous SNV NM_152888 exon37 c.C2813A p.A938D 0.291733 0.1835 0.314470 0.3287 0.1989 0.59 T 0.0 P -1.036 T 0.062 T 0.017 T Pathogenic 8_139702939_G->A 8 139702939 139702939 G A snp 410.77 1/1 33 11 0 11 1.0 intronic rs10089224 COL22A1 AU NM_152888 exon30 c.101568-124G>A 0.45028 0.2083 Uncertain 8_139705735_G->A 8 139705735 139705735 G A snp 96.28 1/1 9 4 0 4 1.0 intronic rs4909833 COL22A1 AU NM_152888 exon31 c.104393-153G>A 0.328474 0.1806 Uncertain 8_139712323_A->G 8 139712323 139712323 A G snp 2500.77 1/1 99 85 0 85 1.0 intronic rs4909835 COL22A1 AU NM_152888 exon34 c.110859-31A>G 0.986022 1 0.988928 0.9960 1 Uncertain 8_139727981_A->G 8 139727981 139727981 A G snp 5810.77 1/1 99 237 1 236 1.0 splicing rs9324493 COL22A1 AU NM_152888 exon36 c.126483+3A>G 0.135982 0.0496 0.164309 0.1269 0.0641 Pathogenic 8_139728576_C->- 8 139728576 139728576 C - indel 6831.73 1/1 99 178 0 178 1.0 intronic rs113675734 COL22A1 AU NM_152888 exon37 c.127037+44delC 0.116613 0.0496 0.152436 0.1342 0.0767 Uncertain 8_139733090_A->- 8 139733090 139733090 A - indel 2502.73 1/1 99 64 0 64 1.0 intronic rs34929697 COL22A1 AU NM_152888 exon39 c.131540+55delA 0.288339 0.0714 0.387380 Uncertain 8_139734242_G->A 8 139734242 139734242 G A snp 2227.77 1/1 99 75 0 75 1.0 intronic rs4319142 COL22A1 AU NM_152888 exon40 c.132783-36G>A 0.167332 0.2073 0.120780 0.1301 0.2708 Uncertain 8_139734462_T->C 8 139734462 139734462 T C snp 2955.77 1/1 99 104 0 104 1.0 intronic rs12678237 COL22A1 AU NM_152888 exon40 c.132837+130T>C 0.963658 0.999 Uncertain 8_139736649_C->A 8 139736649 139736649 C A snp 96.28 1/1 9 3 0 3 1.0 intronic rs28726333 COL22A1 AU NM_152888 exon41 c.135362-208C>A 0.467252 0.2679 Uncertain 8_139736933_C->A 8 139736933 139736933 C A snp 4980.77 1/1 99 188 0 188 1.0 intronic rs10112806 COL22A1 AU NM_152888 exon41 c.135416+22C>A 0.442492 0.2629 0.517377 0.4886 0.2704 Uncertain 8_139749638_T->C 8 139749638 139749638 T C snp 344.77 0/1 99 26 12 14 0.54 intronic rs4409435 COL22A1 AU NM_152888 exon43 c.148271-128T>C 0.428714 0.4931 Uncertain 8_139767349_T->C 8 139767349 139767349 T C snp 2905.77 1/1 99 92 0 92 1.0 intronic rs2318338 COL22A1 AU NM_152888 exon45 c.165904-50T>C 0.879593 0.9762 0.818392 0.8554 0.9796 Uncertain 8_139768085_G->A 8 139768085 139768085 G A snp 4954.77 1/1 99 178 0 178 1.0 intronic rs7825723 COL22A1 AU NM_152888 exon47 c.166577+13G>A 0.745008 0.8681 0.678533 0.6935 0.8612 Uncertain 8_139774512_C->A 8 139774512 139774512 C A snp 121.03 1/1 12 4 0 4 1.0 intronic rs6577947 COL22A1 AU NM_152888 exon49 c.173160-143C>A 0.584065 0.8075 Uncertain 8_139774852_-->ACACACA 8 139774852 139774852 - ACACACA indel 2606.73 1/1 81 28 0 28 1.0 intronic rs149851445 COL22A1 AU NM_152888 exon49 c.173214+143insACACACA 0.55611 0.8065 Uncertain 8_139774866_G->A 8 139774866 139774866 G A snp 654.77 1/1 48 20 0 20 1.0 intronic rs12550638 COL22A1 AU NM_152888 exon49 c.173214+157G>A 0.554313 0.8065 Uncertain 8_139774924_C->T 8 139774924 139774924 C T snp 57.74 1/1 6 3 0 3 1.0 intronic rs4236875 COL22A1 AU NM_152888 exon49 c.173214+215C>T 0.733227 0.8651 Uncertain 8_139823922_C->G 8 139823922 139823922 C G snp 309.78 1/1 24 10 0 10 1.0 intronic rs2318332 COL22A1 AU NM_152888 exon57 c.222546-119C>G 0.760982 0.6597 Uncertain 8_139824057_G->A 8 139824057 139824057 G A snp 401.77 1/1 30 16 0 16 1.0 exonic rs10101430 COL22A1 AU synonymous SNV NM_152888 exon9 c.C1434T p.C478C 0.480631 0.5694 0.496463 0.4951 0.5252 Uncertain 8_139825393_A->G 8 139825393 139825393 A G snp 543.77 1/1 42 16 0 16 1.0 intronic rs6577951 COL22A1 AU NM_152888 exon58 c.223767+131A>G 0.752796 0.6567 Uncertain 8_139838912_T->C 8 139838912 139838912 T C snp 1514.77 1/1 99 56 0 56 1.0 exonic rs2292927 COL22A1 AU nonsynonymous SNV NM_152888 exon6 c.A958G p.S320G 0.83147 0.7599 0.829310 0.8146 0.7354 0.034 P -0.991 T 0.0 T 0.0 T Pathogenic 8_139845520_G->A 8 139845520 139845520 G A snp 1115.77 1/1 81 36 0 36 1.0 intronic rs6993839 COL22A1 AU NM_152888 exon61 c.243898+127G>A 0.627396 0.6984 Uncertain 8_139856286_T->C 8 139856286 139856286 T C snp 1095.77 0/1 99 97 55 42 0.43 intronic rs4736293 COL22A1 AU NM_152888 exon62 c.254831-40T>C 0.0922524 0.1875 0.048132 0.0617 0.1819 Uncertain 8_139889972_A->G 8 139889972 139889972 A G snp 1553.77 1/1 99 51 0 51 1.0 intronic rs4736255 COL22A1 AU NM_152888 exon63 c.288497-20A>G 0.977236 1 0.969634 0.9583 0.9998 Uncertain 8_140630990_A->G 8 140630990 140630990 A G snp 3107.77 0/1 99 248 128 120 0.48 exonic rs2615374 KCNK9 AU synonymous SNV NM_001282534 exon2 c.T636C p.G212G 0.723043 0.6984 0.699523 0.6586 0.6916 Uncertain 8_140842830_T->C 8 140842830 140842830 T C snp 60.77 0/1 89 9 6 3 0.33 intronic rs6651465 TRAPPC9 AR NM_001160372 exon3 c.154819-55292T>C 0.426917 0.2897 Uncertain 8_140843167_T->C 8 140843167 140843167 T C snp 251.77 0/1 99 13 5 8 0.62 intronic rs10111401 TRAPPC9 AR NM_001160372 exon3 c.154819-54955T>C 0.68111 0.744 Uncertain 8_140922699_C->T 8 140922699 140922699 C T snp 125.78 0/1 27 5 1 4 0.8 intronic rs1551806 TRAPPC9 AR NM_001160372 exon4 c.179241+155C>T 0.284944 0.3829 Uncertain 8_141034189_A->T 8 141034189 141034189 A T snp 973.77 0/1 99 86 43 43 0.5 intronic rs9792174 TRAPPC9 AR NM_001160372 exon6 c.290873+13A>T 0.538339 0.5982 0.571582 0.6308 0.6448 Uncertain 8_141407698_T->C 8 141407698 141407698 T C snp 637.77 0/1 99 57 29 28 0.49 intronic rs3779658 TRAPPC9 AR NM_001160372 exon17 c.664415-20T>C 0.290735 0.4157 0.266492 0.3318 0.4338 Uncertain 8_141436826_C->T 8 141436826 141436826 C T snp 37.77 0/1 66 11 8 3 0.27 intronic rs6998221 TRAPPC9 AR NM_001160372 exon19 c.693437+86C>T 0.372204 0.4187 0.434620 Uncertain 8_141445350_AGAAAACAAAAAACAAAAACC->- 8 141445350 141445370 AGAAAACAAAAAACAAAAACC - indel 18737.7 1/1 99 168 0 168 1.0 intronic rs11267571 TRAPPC9 AR NM_001160372 exon20 c.702036+11_702036+31delAGAAAACAAAAAACAAAAACC 0.776757 0.9722 0.640069 0.7332 0.9920 Uncertain 8_141461062_G->A 8 141461062 141461062 G A snp 2195.77 0/1 99 221 118 103 0.47 exonic rs3735803 TRAPPC9 AR synonymous SNV NM_031466 exon2 c.C705T p.N235N 0.466653 0.5179 0.463248 0.4680 0.5265 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000118685.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 8_141461185_A->G 8 141461185 141461185 A G snp 2616.77 0/1 99 250 142 108 0.43 exonic rs3735802 TRAPPC9 AR synonymous SNV NM_031466 exon2 c.T582C p.F194F 0.538938 0.5347 0.565816 0.5446 0.5483 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000118681.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 8_141461266_A->G 8 141461266 141461266 A G snp 3112.77 0/1 99 250 137 113 0.45 exonic rs3735801 TRAPPC9 AR synonymous SNV NM_031466 exon2 c.T501C p.G167G 0.537939 0.5347 0.565739 0.5439 0.5479 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000118680.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 8_141525465_T->C 8 141525465 141525465 T C snp 1018.77 1/1 75 32 0 32 1.0 UTR3 rs2231527 CHRAC1 AU 0.828275 0.7619 Uncertain 8_141549291_A->G 8 141549291 141549291 A G snp 385.77 1/1 30 11 0 11 1.0 intronic rs2977469 AGO2 AU NM_001164623 exon3 c.7276-127A>G 0.553315 0.6389 Uncertain 8_141549347_T->- 8 141549347 141549347 T - indel 1612.73 1/1 99 39 0 39 1.0 intronic rs35387146 AGO2 AU NM_001164623 exon3 c.7276-71delT 0.563299 0.6389 Uncertain 8_141549383_A->G 8 141549383 141549383 A G snp 1067.77 0/1 99 92 43 49 0.53 intronic rs13252337 AGO2 AU NM_001164623 exon3 c.7276-35A>G 0.222244 0.3304 0.197909 0.2557 0.3140 Uncertain 8_141551407_G->A 8 141551407 141551407 G A snp 693.77 0/1 99 65 37 28 0.43 exonic rs2293939 AGO2 AU synonymous SNV NM_012154 exon15 c.C1890T p.R630R 0.227436 0.3581 0.209057 0.2677 0.3439 Uncertain 8_141557497_T->C 8 141557497 141557497 T C snp 785.77 0/1 99 52 22 30 0.58 intronic rs2292782 AGO2 AU NM_001164623 exon6 c.15424-69T>C 0.669928 0.6042 Uncertain 8_141559358_G->A 8 141559358 141559358 G A snp 2446.77 0/1 99 159 57 102 0.64 exonic rs2292781 AGO2 AU synonymous SNV NM_012154 exon12 c.C1443T p.A481A 0.472444 0.5942 0.397339 0.4231 0.6107 Uncertain 8_141561393_G->C 8 141561393 141561393 G C snp 457.77 0/1 99 47 29 18 0.38 intronic rs2292779 AGO2 AU NM_001164623 exon8 c.19259-8G>C 0.669728 0.6052 0.598860 0.5841 0.6304 Uncertain 8_141565892_A->C 8 141565892 141565892 A C snp 401.77 0/1 99 24 11 13 0.54 intronic rs4961270 AGO2 AU NM_001164623 exon9 c.23852-102A>C 0.46845 0.5645 Uncertain 8_141566311_C->T 8 141566311 141566311 C T snp 1823.77 0/1 99 126 55 71 0.56 exonic rs2271738 AGO2 AU synonymous SNV NM_012154 exon9 c.G1101A p.A367A 0.449281 0.6389 0.347532 0.4103 0.6584 Uncertain 8_141566487_G->A 8 141566487 141566487 G A snp 400.77 0/1 99 24 11 13 0.54 intronic rs2271736 AGO2 AU NM_001164623 exon10 c.24243+102G>A 0.467252 0.5615 Uncertain 8_141568622_G->A 8 141568622 141568622 G A snp 2514.77 0/1 99 250 142 108 0.43 exonic rs2292778 AGO2 AU synonymous SNV NM_012154 exon7 c.C840T p.R280R 0.655551 0.6022 0.628249 0.5789 0.6250 Uncertain 8_141568699_A->G 8 141568699 141568699 A G snp 1700.77 0/1 99 148 80 68 0.46 intronic rs2292777 AGO2 AU NM_001164623 exon12 c.26529+28A>G 0.657748 0.6022 0.631555 0.5824 0.6257 Uncertain 8_141568725_G->A 8 141568725 141568725 G A snp 1167.77 0/1 99 103 60 43 0.42 intronic rs2292776 AGO2 AU NM_001164623 exon12 c.26529+54G>A 0.655551 0.6022 0.618922 Uncertain 8_141572497_G->A 8 141572497 141572497 G A snp 242.77 0/1 51 11 2 9 0.82 intronic rs2292774 AGO2 AU NM_001164623 exon15 c.30409-54G>A 0.489417 0.6815 Uncertain 8_141572498_G->A 8 141572498 141572498 G A snp 239.77 0/1 57 11 2 9 0.82 intronic rs2292773 AGO2 AU NM_001164623 exon15 c.30409-53G>A 0.488219 0.6815 Uncertain 8_141669819_T->- 8 141669819 141669819 T - indel 348.73 0/1 99 34 10 24 0.71 intronic rs3835176 PTK2 AU NM_005607 exon1 c.213+42delT 0.755791 0.5516 0.7701 0.5719 Uncertain 8_141670907_C->A 8 141670907 141670907 C A snp 187.77 0/1 99 15 8 7 0.47 intronic rs9324530 PTK2 AU NM_005607 exon1 c.213+1130C>A 0.378594 0.3879 Uncertain 8_141679817_T->C 8 141679817 141679817 T C snp 1002.77 0/1 99 73 34 39 0.53 intronic rs10283368 PTK2 AU NM_001199649 exon4 c.10261-8T>C 0.361821 0.4077 0.4389 0.3646 Uncertain 8_141685506_T->C 8 141685506 141685506 T C snp 1191.77 0/1 99 84 35 49 0.58 intronic rs13249806 PTK2 AU NM_001199649 exon6 c.15964-22T>C 0.361022 0.4048 0.415900 0.4582 0.4168 Uncertain 8_141685641_C->A 8 141685641 141685641 C A snp 1438.77 0/1 99 119 55 64 0.54 intronic rs6998337 PTK2 AU NM_005607 exon5 c.16034+43C>A 0.767971 0.5685 0.820978 0.7760 0.5475 Uncertain 8_141685774_A->G 8 141685774 141685774 A G snp 159.77 0/1 66 11 4 7 0.64 intronic rs13278258 PTK2 AU NM_005607 exon5 c.16034+176A>G 0.361022 0.4067 Uncertain 8_141744917_G->A 8 141744917 141744917 G A snp 659.77 0/1 99 72 40 32 0.44 intronic rs45613837 PTK2 AU NM_005607 exon11 c.75785-432G>A 0.465855 0.5605 0.391001 0.5168 0.6124 Uncertain 8_141762558_G->A 8 141762558 141762558 G A snp 300.77 0/1 99 15 6 9 0.6 intronic rs6578132 PTK2 AU NM_005607 exon16 c.92851+143G>A 0.647764 0.6389 Uncertain 8_141774282_A->C 8 141774282 141774282 A C snp 280.77 0/1 99 34 22 12 0.35 intronic rs7840381 PTK2 AU NM_005607 exon18 c.104768-50A>C 0.458067 0.5794 0.372828 0.4754 0.6121 Uncertain 8_141774576_A->G 8 141774576 141774576 A G snp 80.77 0/1 99 7 3 4 0.57 intronic rs4378011 PTK2 AU NM_005607 exon18 c.104825+187A>G 0.652556 0.6587 Uncertain 8_141779826_C->A 8 141779826 141779826 C A snp 91.77 0/1 99 22 17 5 0.23 intronic rs10875458 PTK2 AU NM_005607 exon18 c.104825+5437C>A 0.648163 0.6379 Uncertain 8_141780818_T->C 8 141780818 141780818 T C snp 783.77 0/1 99 62 28 34 0.55 intronic rs79812711 PTK2 AU NM_005607 exon18 c.104825+6429T>C 0.252995 0.4752 0.152826 0.3120 0.5909 0.78 T 0.978 P -1.021 T 0.0 T 0.0 T Uncertain 8_141840645_G->A 8 141840645 141840645 G A snp 418.77 0/1 99 41 22 19 0.46 intronic rs4246127 PTK2 AU NM_005607 exon25 c.171061+20G>A 0.641374 0.6071 0.562910 0.5895 0.6608 Uncertain 8_141840739_G->A 8 141840739 141840739 G A snp 73.77 0/1 99 11 7 4 0.36 intronic rs4246128 PTK2 AU NM_005607 exon25 c.171061+114G>A 0.642572 0.6071 Uncertain 8_141994240_T->C 8 141994240 141994240 T C snp 64.77 0/1 93 8 5 3 0.38 UTR5 rs13258775 PTK2 AU 0.358427 0.4038 0.6667 0.5 Uncertain 8_141994271_C->A 8 141994271 141994271 C A snp 88.77 0/1 74 10 5 5 0.5 intronic rs13250222 PTK2 AU NM_005607 exon31 c.324690+17C>A 0.358427 0.4038 Uncertain 8_141994272_A->C 8 141994272 141994272 A C snp 82.77 0/1 99 10 5 5 0.5 intronic rs13251272 PTK2 AU NM_005607 exon31 c.324690+18A>C 0.358427 0.4038 Uncertain 8_141994297_A->G 8 141994297 141994297 A G snp 139.03 1/1 12 5 0 5 1.0 intronic rs4961311 PTK2 AU NM_005607 exon31 c.324690+43A>G 0.914137 1 Uncertain 8_141994393_T->G 8 141994393 141994393 T G snp 54.74 1/1 6 2 0 2 1.0 intronic rs11781807 PTK2 AU NM_005607 exon31 c.324690+139T>G 0.392572 0.4038 Uncertain 8_142146708_T->C 8 142146708 142146708 T C snp 4510.77 1/1 99 170 0 170 1.0 UTR5 rs307772 DENND3 AU 0.893171 0.9881 0.799646 0.8335 0.9844 1 T 0.000 P -0.972 T 0.001 T 0.001 T Uncertain 8_142152442_A->G 8 142152442 142152442 A G snp 3441.77 1/1 99 121 0 121 1.0 intronic rs307765 DENND3 AU NM_014957 exon4 c.4678+1019A>G 0.622604 0.6627 0.4782 0.6634 1 T 0.0 P -0.997 T Uncertain 8_142154291_G->A 8 142154291 142154291 G A snp 3151.77 1/1 99 121 0 121 1.0 exonic rs307761 DENND3 AU nonsynonymous SNV NM_014957 exon5 c.G428A p.S143N 0.347244 0.4583 0.234738 0.1886 0.4769 0.82 T 0.001 P -0.963 T 0.0 T 0.002 T Pathogenic 8_142160876_C->T 8 142160876 142160876 C T snp 5282.77 1/1 99 184 1 183 0.99 intronic rs170088 DENND3 AU NM_014957 exon6 c.14187-56C>T 0.346645 0.4563 Uncertain 8_142161032_A->C 8 142161032 142161032 A C snp 6373.77 1/1 99 223 0 223 1.0 exonic rs441914 DENND3 AU synonymous SNV NM_014957 exon6 c.A595C p.R199R 0.312101 0.4583 0.162925 0.1815 0.4759 0.999 P -0.979 T Likely benign 8_142161873_C->T 8 142161873 142161873 C T snp 2918.77 1/1 99 107 0 107 1.0 exonic rs2304284 DENND3 AU synonymous SNV NM_014957 exon7 c.C771T p.F257F 0.233027 0.4583 0.121559 0.1549 0.4740 1.000 P -0.910 T Likely benign 8_142161888_G->A 8 142161888 142161888 G A snp 2558.77 1/1 99 93 0 93 1.0 exonic rs2304283 DENND3 AU synonymous SNV NM_014957 exon7 c.G786A p.T262T 0.233027 0.4583 0.121713 0.1549 0.4736 1.000 P -0.932 T Likely benign 8_142161957_C->T 8 142161957 142161957 C T snp 557.77 1/1 42 17 0 17 1.0 intronic rs170089 DENND3 AU NM_014957 exon7 c.15191+21C>T 0.347843 0.4583 0.234123 0.1887 0.4734 Uncertain 8_142166214_C->T 8 142166214 142166214 C T snp 394.77 1/1 30 12 0 12 1.0 intronic rs555399 DENND3 AU NM_014957 exon8 c.19324+145C>T 0.995607 1 Uncertain 8_142173688_T->A 8 142173688 142173688 T A snp 114.77 0/1 99 8 4 4 0.5 intronic DENND3 AU NM_014957 exon10 c.26783+160T>A Uncertain 8_142200205_-->CATGTTTG 8 142200205 142200205 - CATGTTTG indel 1327.73 1/1 39 13 0 13 1.0 intronic rs144741369 DENND3 AU NM_014957 exon20 c.53637-177insCATGTTTG 0.595847 0.7986 Uncertain 8_142200467_G->A 8 142200467 142200467 G A snp 1005.77 0/1 99 80 40 40 0.5 exonic rs1045303 DENND3 AU synonymous SNV NM_014957 exon20 c.G3090A p.P1030P 0.375799 0.6171 0.249962 0.3358 0.5896 0.253 P -1.039 T Likely benign 8_142202856_C->T 8 142202856 142202856 C T snp 1730.77 0/1 99 142 73 69 0.49 intronic rs6990186 DENND3 AU NM_014957 exon22 c.56017+94C>T 0.46905 0.6617 0.4596 0.6519 Uncertain 8_142202884_T->C 8 142202884 142202884 T C snp 3855.77 1/1 99 125 0 125 1.0 intronic rs7014062 DENND3 AU NM_014957 exon22 c.56017+122T>C 0.716454 0.8125 0.6703 0.8181 0.0 P -1.024 T Uncertain 8_142203122_C->T 8 142203122 142203122 C T snp 152.77 0/1 99 15 9 6 0.4 intronic rs71516606 DENND3 AU NM_014957 exon22 c.56017+360C>T 0.105831 0.1478 Uncertain 8_142204326_C->G 8 142204326 142204326 C G snp 1052.77 0/1 99 69 28 41 0.59 exonic rs1045248 DENND3 AU synonymous SNV NM_014957 exon23 c.C3591G p.G1197G 0.511781 0.6627 0.420102 0.4823 0.6644 1.0 P -0.948 T Likely benign 8_142221874_A->G 8 142221874 142221874 A G snp 604.77 0/1 99 35 12 23 0.66 intronic rs3739239 SLC45A4 AU NM_001080431 exon1 c.256+78A>G 0.16234 0.3552 Uncertain 8_142222261_A->G 8 142222261 142222261 A G snp 123.03 1/1 12 4 0 4 1.0 UTR3 rs3824235 SLC45A4 AU 0.696086 0.8095 0.623664 0.6887 0.8059 Uncertain 8_142222374_A->G 8 142222374 142222374 A G snp 1639.77 1/1 99 54 0 54 1.0 exonic rs7017848 SLC45A4 AU synonymous SNV NM_001080431 exon7 c.T2070C p.G690G 0.686502 0.8036 0.634441 0.6283 0.7999 Uncertain 8_142222445_T->C 8 142222445 142222445 T C snp 3796.77 1/1 99 131 0 131 1.0 exonic rs3739238 SLC45A4 AU nonsynonymous SNV NM_001080431 exon7 c.A1999G p.N667D 0.710663 0.8145 0.653006 0.6295 0.8059 0.89 T 0.0 P -1.002 T 0.0 T 0.0 T Pathogenic 8_142225990_G->A 8 142225990 142225990 G A snp 3124.77 0/1 99 250 120 130 0.52 exonic rs2288998 SLC45A4 AU synonymous SNV NM_001080431 exon6 c.C1656T p.V552V 0.296725 0.4355 0.281332 0.2500 0.4506 Uncertain 8_142226108_C->T 8 142226108 142226108 C T snp 1438.77 0/1 99 121 61 60 0.5 intronic rs892364 SLC45A4 AU NM_001080431 exon3 c.4529+39C>T 0.383986 0.4008 0.328000 0.3877 0.4256 Uncertain 8_142228078_GAGCGGCCCCGCTCCGGT->- 8 142228078 142228095 GAGCGGCCCCGCTCCGGT - indel 8671.73 1/1 99 42 0 42 1.0 intronic rs201532280 SLC45A4 AU NM_001080431 exon5 c.6569-31_6569-14delGAGCGGCCCCGCTCCGGT 0.696685 0.8175 0.608013 0.6597 0.8042 Uncertain 8_142228809_T->C 8 142228809 142228809 T C snp 5114.77 1/1 99 190 1 189 0.99 exonic rs753779 SLC45A4 AU synonymous SNV NM_001080431 exon4 c.A777G p.A259A 0.711462 0.8194 0.652314 0.6317 0.8199 Uncertain 8_142228909_G->A 8 142228909 142228909 G A snp 2933.77 0/1 99 250 125 125 0.5 exonic rs753778 SLC45A4 AU nonsynonymous SNV NM_001080431 exon4 c.C677T p.P226L 0.375399 0.4038 0.321440 0.3508 0.3819 0.2 T 0.0 P -1.043 T 0.008 T 0.004 T Pathogenic 8_142229145_A->G 8 142229145 142229145 A G snp 2291.77 1/1 99 75 0 75 1.0 intronic rs3739235 SLC45A4 AU NM_001080431 exon5 c.7588+17A>G 0.709665 0.8175 0.659513 0.6362 0.8152 Uncertain 8_142229178_G->A 8 142229178 142229178 G A snp 534.77 0/1 99 41 23 18 0.44 intronic rs3739234 SLC45A4 AU NM_001080431 exon5 c.7588+50G>A 0.380391 0.4038 0.303577 0.3508 0.3840 Uncertain 8_142229573_T->C 8 142229573 142229573 T C snp 176.9 1/1 15 5 0 5 1.0 intronic rs4961337 SLC45A4 AU NM_001080431 exon6 c.8208-175T>C 0.986422 1 Uncertain 8_142229582_G->A 8 142229582 142229582 G A snp 108.77 0/1 99 8 4 4 0.5 intronic rs2304281 SLC45A4 AU NM_001080431 exon6 c.8208-166G>A 0.0932508 0.1716 Uncertain 8_142229891_A->G 8 142229891 142229891 A G snp 3280.77 1/1 99 114 0 114 1.0 exonic rs2304279 SLC45A4 AU synonymous SNV NM_001080431 exon3 c.T315C p.I105I 0.703474 0.8175 0.643418 0.6504 0.8156 Uncertain 8_142229946_G->A 8 142229946 142229946 G A snp 1323.77 1/1 96 41 0 41 1.0 intronic rs4961256 SLC45A4 AU NM_001080431 exon6 c.8388+18G>A 0.697684 0.8175 0.640548 0.6381 0.8075 Uncertain 8_142231504_A->G 8 142231504 142231504 A G snp 50.74 1/1 6 2 0 2 1.0 intronic rs4961339 SLC45A4 AU NM_001080431 exon7 c.10135-171A>G 0.705272 0.8175 Uncertain 8_142231944_G->A 8 142231944 142231944 G A snp 631.77 1/1 48 18 0 18 1.0 intronic rs6983780 SLC45A4 AU NM_001080431 exon7 c.10324+80G>A 0.691094 0.8175 Uncertain 8_142231945_C->G 8 142231945 142231945 C G snp 641.77 1/1 48 17 0 17 1.0 intronic rs6984883 SLC45A4 AU NM_001080431 exon7 c.10324+81C>G 0.691094 0.8175 Uncertain 8_142232002_G->A 8 142232002 142232002 G A snp 56.74 1/1 6 2 0 2 1.0 intronic rs4961340 SLC45A4 AU NM_001080431 exon7 c.10324+138G>A 0.691294 0.8175 Uncertain 8_142238339_C->A 8 142238339 142238339 C A snp 762.77 0/1 99 83 49 34 0.41 exonic rs34650936 SLC45A4 AU synonymous SNV NM_001080431 exon1 c.G27T p.G9G 0.106829 0.1577 0.144472 0.1328 0.1684 Uncertain 8_142266691_A->C 8 142266691 142266691 A C snp 4176.77 1/1 99 146 0 146 1.0 intergenic rs7002500 SLC45A4 AU 0.741014 0.8571 0.6626 0.8636 0 D 0.0 P -1.051 T Uncertain 8_142367335_T->C 8 142367335 142367335 T C snp 2720.77 0/1 99 244 131 113 0.46 exonic rs10875472 GPR20 AU nonsynonymous SNV NM_005293 exon2 c.A689G p.H230R 0.756789 0.5099 0.826404 0.7942 0.6031 0.68 T 0.000 P -0.978 T 0.0 T 0.001 T Pathogenic 8_142367400_G->A 8 142367400 142367400 G A snp 1976.77 0/1 99 195 116 79 0.41 exonic rs11167054 GPR20 AU synonymous SNV NM_005293 exon2 c.C624T p.P208P 0.752796 0.5099 0.828654 0.7846 0.5888 Uncertain 8_142367559_G->A 8 142367559 142367559 G A snp 2642.77 0/1 99 202 87 115 0.57 exonic rs11785629 GPR20 AU synonymous SNV NM_005293 exon2 c.C465T p.P155P 0.601238 0.5099 0.629000 0.7083 0.5991 Uncertain 8_142368150_T->G 8 142368150 142368150 T G snp 106.77 0/1 99 17 11 6 0.35 intronic rs7388121 GPR20 AU NM_005293 exon1 c.1101+103T>G 0.747204 0.5079 Uncertain 8_142368156_T->A 8 142368156 142368156 T A snp 109.77 0/1 99 17 11 6 0.35 intronic rs7388122 GPR20 AU NM_005293 exon1 c.1101+109T>A 0.747404 0.5079 Uncertain 8_142445385_A->G 8 142445385 142445385 A G snp 1722.77 0/1 99 174 98 76 0.44 intronic rs185051766 MROH5 AU NM_207414 exon4 c.1292+36A>G 0.000599042 0.003 0.000628 0.0004 0.0027 Uncertain 8_142446937_C->T 8 142446937 142446937 C T snp 973.77 0/1 99 73 33 40 0.55 exonic rs78448370 MROH5 AU unknown 0.0792732 0.1627 0.080816 0.1145 0.1670 Uncertain 8_142459814_C->T 8 142459814 142459814 C T snp 1669.77 1/1 99 57 0 57 1.0 exonic rs7003306 MROH5 AU unknown 0.994808 0.9742 0.9988 0.9644 Uncertain 8_142476529_G->A 8 142476529 142476529 G A snp 1341.77 0/1 99 109 51 58 0.53 exonic rs7816228 MROH5 AU unknown 0.273163 0.4196 0.146861 0.2637 0.4395 Uncertain 8_142477752_T->C 8 142477752 142477752 T C snp 1923.77 1/1 99 64 0 64 1.0 intronic rs11775650 MROH5 AU NM_207414 exon13 c.33591+104T>C 0.910144 0.9901 Uncertain 8_142480610_C->T 8 142480610 142480610 C T snp 1698.77 1/1 99 65 0 65 1.0 intronic rs4907398 MROH5 AU NM_207414 exon14 c.36639-86C>T 0.845647 0.9921 Uncertain 8_142483063_C->T 8 142483063 142483063 C T snp 1933.77 1/1 99 67 0 67 1.0 intronic rs4442176 MROH5 AU NM_207414 exon16 c.38997+9C>T 0.490815 0.6002 0.391120 0.5323 0.6432 Uncertain 8_142484144_T->C 8 142484144 142484144 T C snp 494.77 1/1 39 13 0 13 1.0 intronic rs2126099 MROH5 AU NM_207414 exon17 c.40174-87T>C 0.478834 0.5962 Uncertain 8_142484366_-->G 8 142484366 142484366 - G indel 5011.73 1/1 99 124 0 124 1.0 intronic rs33975024 MROH5 AU NM_207414 exon17 c.40270+39insG 0.959265 1 0.952695 0.9849 1 Uncertain 8_142487856_A->G 8 142487856 142487856 A G snp 3058.77 1/1 99 112 0 112 1.0 intronic rs11779508 MROH5 AU NM_207414 exon20 c.43818-19A>G 0.517971 0.5992 0.452962 0.5266 0.5990 Uncertain 8_142488662_C->T 8 142488662 142488662 C T snp 850.77 1/1 63 34 0 34 1.0 intronic rs2613643 MROH5 AU NM_207414 exon21 c.44661-56C>T 0.860823 0.9921 Uncertain 8_142488837_G->A 8 142488837 142488837 G A snp 1021.77 1/1 72 40 0 40 1.0 exonic rs12547980 MROH5 AU unknown 0.440895 0.6002 0.356210 0.5060 0.6272 Uncertain 8_142489981_C->T 8 142489981 142489981 C T snp 3738.77 1/1 99 126 0 126 1.0 intronic rs2748417 MROH5 AU NM_207414 exon23 c.45952-28C>T 0.907748 0.9921 0.888320 0.9379 0.9928 Uncertain 8_142490079_G->A 8 142490079 142490079 G A snp 5522.77 1/1 99 210 0 210 1.0 exonic rs2613641 MROH5 AU unknown 0.935703 0.9921 0.937994 0.9800 0.9928 Uncertain 8_142490120_G->T 8 142490120 142490120 G T snp 4649.77 1/1 99 166 0 166 1.0 exonic rs2748416 MROH5 AU unknown 0.781949 0.7778 0.806306 0.8718 0.7957 Uncertain 8_142490160_-->C 8 142490160 142490160 - C indel 782.73 0/1 99 97 50 47 0.48 intronic rs146578467 MROH5 AU NM_207414 exon23 c.46069+34insC 0.188498 0.2044 0.1463 0.1878 Uncertain 8_142490214_G->C 8 142490214 142490214 G C snp 1291.77 1/1 96 39 0 39 1.0 intronic rs58431362 MROH5 AU NM_207414 exon23 c.46069+88G>C 0.307907 0.4315 Uncertain 8_142505038_T->C 8 142505038 142505038 T C snp 1093.77 0/1 99 93 43 50 0.54 splicing rs6578193 MROH5 AU NM_207414 exon27 c.60980+1T>C 0.79373 0.6657 0.776683 0.7882 0.6722 Pathogenic 8_142506401_G->C 8 142506401 142506401 G C snp 215.77 0/1 99 21 13 8 0.38 intronic rs2748400 MROH5 AU NM_207414 exon29 c.62362-18G>C 0.113219 0.1944 0.088669 0.0941 0.1861 Uncertain 8_142517222_A->G 8 142517222 142517222 A G snp 1023.77 0/1 99 142 97 45 0.32 exonic rs2748421 MROH5 AU unknown 0.368211 0.3859 0.394301 0.4174 0.3883 Uncertain 8_142517227_C->T 8 142517227 142517227 C T snp 930.77 0/1 99 140 96 44 0.31 exonic rs2613648 MROH5 AU unknown 0.368211 0.3859 0.393820 0.4174 0.3881 Uncertain 8_142524759_A->G 8 142524759 142524759 A G snp 601.77 0/1 99 41 18 23 0.56 intergenic rs72685453 MROH5 AU 0.175919 0.3135 0.2132 0.3939 Uncertain 8_142528752_A->G 8 142528752 142528752 A G snp 860.77 0/1 99 91 49 42 0.46 intergenic rs142246389 MROH5 AU 0.0966454 0.3085 0.0691 0.4512 Uncertain 8_143352978_T->G 8 143352978 143352978 T G snp 963.77 1/1 69 38 0 38 1.0 UTR3 rs11777062 TSNARE1 AU 1 1 1 1 Uncertain 8_143365914_T->- 8 143365914 143365914 T - indel 3007.73 1/1 99 78 0 78 1.0 intronic rs398010135 TSNARE1 AU NM_145003 exon4 c.55002+68delT 1 1 Uncertain 8_143381810_T->C 8 143381810 143381810 T C snp 1233.77 0/1 99 77 37 40 0.52 intronic rs7822013 TSNARE1 AU NM_145003 exon5 c.71002-36T>C 0.561901 0.5347 0.524220 0.4789 0.5152 Uncertain 8_143399752_T->C 8 143399752 143399752 T C snp 780.77 0/1 99 51 22 29 0.57 intronic rs4514123 TSNARE1 AU NM_145003 exon8 c.89060-152T>C 0.394968 0.3542 Uncertain 8_143412377_T->C 8 143412377 143412377 T C snp 1137.77 0/1 99 110 61 49 0.45 intronic rs34722595 TSNARE1 AU NM_145003 exon9 c.101487+46T>C 0.251398 0.2907 0.230160 0.1922 0.2832 Uncertain 8_143413136_C->T 8 143413136 143413136 C T snp 6169.77 1/1 99 232 2 230 0.99 exonic rs10435683 TSNARE1 AU nonsynonymous SNV NM_001291931 exon3 c.G145A p.V49I 0.43131 0.4742 0.384189 0.4115 0.5301 0.85 T 0.000 P -0.921 T 0.047 T 0.013 T Pathogenic 8_143425271_C->A 8 143425271 143425271 C A snp 523.77 0/1 99 50 28 22 0.44 intronic rs67990630 TSNARE1 AU NM_145003 exon11 c.114482-55C>A 0.36222 0.3472 Uncertain 8_143425720_T->C 8 143425720 143425720 T C snp 5509.77 1/1 99 195 0 195 1.0 exonic rs10100935 TSNARE1 AU nonsynonymous SNV NM_145003 exon4 c.A352G p.T118A 0.586062 0.631 0.478486 0.4476 0.6365 1 T 0.0 P -0.965 T 0.0 T 0.0 T Pathogenic 8_143425912_G->A 8 143425912 143425912 G A snp 77.77 0/1 69 5 2 3 0.6 intronic rs10110836 TSNARE1 AU NM_145003 exon11 c.114989+79G>A 0.305112 0.2629 Uncertain 8_143427178_C->G 8 143427178 143427178 C G snp 3405.77 0/1 99 250 122 128 0.51 exonic rs33970858 TSNARE1 AU nonsynonymous SNV NM_145003 exon3 c.G164C p.R55P 0.36222 0.3472 0.332769 0.2442 0.3373 1 T 0.0 P -0.941 T 0.0 T 0.0 T Pathogenic 8_143436034_A->G 8 143436034 143436034 A G snp 1080.77 0/1 99 100 49 51 0.51 exonic rs7814359 TSNARE1 AU nonsynonymous SNV NM_001291931 exon2 c.T52C p.F18L 0.355831 0.3472 0.324389 0.2426 0.3364 0.1 T 0.0 P -0.931 T 0.3 T 0.067 T Pathogenic 8_143436060_C->G 8 143436060 143436060 C G snp 1283.77 0/1 99 107 50 57 0.53 exonic rs78297359 TSNARE1 AU nonsynonymous SNV NM_001291931 exon2 c.G26C p.G9A 0.0191693 0.0913 0.000154 0.0079 0.0982 0.03 T 1 N -1.062 T 0.235 T 0.067 T Pathogenic 8_143447132_C->T 8 143447132 143447132 C T snp 216.84 1/1 18 6 0 6 1.0 intronic rs4419935 TSNARE1 AU NM_145003 exon13 c.125280+11008C>T 0.586062 0.6329 Uncertain 8_143447503_C->T 8 143447503 143447503 C T snp 259.8 1/1 21 8 0 8 1.0 intronic rs7388487 TSNARE1 AU NM_145003 exon13 c.125280+11379C>T 0.585863 0.6329 Uncertain 8_143556790_G->A 8 143556790 143556790 G A snp 1080.77 0/1 99 114 64 50 0.44 intronic rs55875009 ADGRB1 AU NM_001702 exon2 c.11275-44G>A 0.23103 0.3006 0.184313 0.2343 0.3097 Uncertain 8_143559431_T->C 8 143559431 143559431 T C snp 767.77 0/1 99 60 29 31 0.52 intronic rs10481394 ADGRB1 AU NM_001702 exon6 c.13988-116T>C 0.757987 0.7044 Uncertain 8_143560504_A->G 8 143560504 143560504 A G snp 137.77 0/1 99 12 5 7 0.58 intronic rs13279697 ADGRB1 AU NM_001702 exon7 c.15124-179A>G 0.756789 0.7024 Uncertain 8_143560555_T->C 8 143560555 143560555 T C snp 475.77 0/1 99 41 21 20 0.49 intronic rs13252518 ADGRB1 AU NM_001702 exon7 c.15124-128T>C 0.757388 0.7054 Uncertain 8_143560895_G->A 8 143560895 143560895 G A snp 675.77 0/1 99 39 14 25 0.64 intronic rs12682337 ADGRB1 AU NM_001702 exon7 c.15289+47G>A 0.757388 0.7054 0.798326 0.8341 0.7581 Uncertain 8_143560898_T->C 8 143560898 143560898 T C snp 747.77 0/1 99 39 14 25 0.64 intronic rs12680973 ADGRB1 AU NM_001702 exon7 c.15289+50T>C 0.84405 0.7649 0.863623 0.8575 0.7941 Uncertain 8_143560997_GCCAGCT->- 8 143560997 143561003 GCCAGCT - indel 4926.73 0/1 99 115 58 57 0.5 intronic rs373430969 ADGRB1 AU NM_001702 exon8 c.15494-56_15494-50delGCCAGCT 0.743011 0.7044 Uncertain 8_143561206_G->A 8 143561206 143561206 G A snp 584.77 0/1 99 69 45 24 0.35 intronic rs4509377 ADGRB1 AU NM_001702 exon8 c.15596+51G>A 0.743211 0.7054 0.774620 Uncertain 8_143563087_C->G 8 143563087 143563087 C G snp 2580.77 0/1 99 218 107 111 0.51 intronic rs11782438 ADGRB1 AU NM_001702 exon10 c.17513+15C>G 0.519968 0.5149 0.573844 0.6051 0.5438 Uncertain 8_143563161_G->A 8 143563161 143563161 G A snp 696.77 0/1 99 52 28 24 0.46 intronic rs11776057 ADGRB1 AU NM_001702 exon10 c.17513+89G>A 0.467252 0.5198 Uncertain 8_143570281_G->A 8 143570281 143570281 G A snp 1223.77 0/1 99 100 53 47 0.47 intronic rs73714305 ADGRB1 AU NM_001702 exon14 c.24836-114G>A 0.485423 0.5218 Uncertain 8_143570921_A->G 8 143570921 143570921 A G snp 2464.77 0/1 99 222 120 102 0.46 intronic rs7825551 ADGRB1 AU NM_001702 exon15 c.25240+122A>G 0.848442 0.7827 Uncertain 8_143572356_G->A 8 143572356 143572356 G A snp 87.77 0/1 99 9 4 5 0.56 intronic rs541295404 ADGRB1 AU NM_001702 exon16 c.26617+180G>A 0.000199681 0.001 Uncertain 8_143599631_A->G 8 143599631 143599631 A G snp 5787.77 1/1 99 198 0 198 1.0 intronic rs13281622 ADGRB1 AU NM_001702 exon18 c.54043+29A>G 0.933906 0.9643 0.932566 0.9653 0.9556 Uncertain 8_143599634_T->G 8 143599634 143599634 T G snp 5609.77 1/1 99 199 0 199 1.0 intronic rs13254098 ADGRB1 AU NM_001702 exon18 c.54043+32T>G 1 1 1.0000 1 Uncertain 8_143599651_A->C 8 143599651 143599651 A C snp 4884.77 1/1 99 168 0 168 1.0 intronic rs13281652 ADGRB1 AU NM_001702 exon18 c.54043+49A>C 1 1 1 1 Uncertain 8_143599665_T->C 8 143599665 143599665 T C snp 3921.77 1/1 99 133 0 133 1.0 intronic rs13254123 ADGRB1 AU NM_001702 exon18 c.54043+63T>C 1 1 Uncertain 8_143599704_A->C 8 143599704 143599704 A C snp 1780.77 1/1 99 52 0 52 1.0 intronic rs13281694 ADGRB1 AU NM_001702 exon18 c.54043+102A>C 1 1 Uncertain 8_143599716_G->C 8 143599716 143599716 G C snp 1478.77 1/1 99 40 0 40 1.0 intronic rs13278828 ADGRB1 AU NM_001702 exon18 c.54043+114G>C 1 1 Uncertain 8_143599734_A->C 8 143599734 143599734 A C snp 977.77 1/1 72 27 0 27 1.0 intronic rs13281922 ADGRB1 AU NM_001702 exon18 c.54043+132A>C 1 1 Uncertain 8_143599746_A->C 8 143599746 143599746 A C snp 689.77 1/1 51 18 0 18 1.0 intronic rs13281935 ADGRB1 AU NM_001702 exon18 c.54043+144A>C 1 1 Uncertain 8_143599753_A->C 8 143599753 143599753 A C snp 683.77 1/1 51 18 0 18 1.0 intronic rs13281945 ADGRB1 AU NM_001702 exon18 c.54043+151A>C 1 1 Uncertain 8_143603269_A->G 8 143603269 143603269 A G snp 472.77 1/1 36 13 0 13 1.0 intronic rs7463713 ADGRB1 AU NM_001702 exon20 c.57766-56A>G 0.998203 1 Uncertain 8_143603318_C->T 8 143603318 143603318 C T snp 707.77 1/1 51 27 0 27 1.0 intronic rs7462471 ADGRB1 AU NM_001702 exon20 c.57766-7C>T 0.547724 0.6032 0.612291 0.7479 0.6932 Uncertain 8_143603418_G->C 8 143603418 143603418 G C snp 1423.77 1/1 99 49 0 49 1.0 exonic rs7460600 ADGRB1 AU synonymous SNV NM_001702 exon20 c.G3117C p.A1039A 0.903754 0.9623 0.909931 0.9562 0.9503 Uncertain 8_143603668_T->C 8 143603668 143603668 T C snp 56.74 1/1 6 2 0 2 1.0 intronic rs7465185 ADGRB1 AU NM_001702 exon20 c.57917+192T>C 0.813498 0.9187 Uncertain 8_143614600_A->G 8 143614600 143614600 A G snp 71.77 0/1 99 8 5 3 0.38 intronic rs10095825 ADGRB1 AU NM_001702 exon24 c.69096-55A>G 0.345847 0.4157 Uncertain 8_143614623_G->A 8 143614623 143614623 G A snp 286.77 0/1 99 21 11 10 0.48 intronic rs13269567 ADGRB1 AU NM_001702 exon24 c.69096-32G>A 0.494609 0.6935 0.358357 0.4629 0.6794 Uncertain 8_143614641_A->G 8 143614641 143614641 A G snp 471.77 0/1 99 30 13 17 0.57 intronic rs13272804 ADGRB1 AU NM_001702 exon24 c.69096-14A>G 0.503994 0.7242 0.380713 0.5507 0.7668 Uncertain 8_143620570_A->G 8 143620570 143620570 A G snp 319.77 0/1 99 15 4 11 0.73 intronic rs7387853 ADGRB1 AU NM_001702 exon26 c.75175-164A>G 0.682907 0.7887 Uncertain 8_143620691_G->A 8 143620691 143620691 G A snp 1427.77 0/1 99 131 66 65 0.5 intronic rs772105493 ADGRB1 AU NM_001702 exon26 c.75175-43G>A 0.0004 0 Uncertain 8_143620822_T->C 8 143620822 143620822 T C snp 4106.77 1/1 99 159 0 159 1.0 intronic rs7388198 ADGRB1 AU NM_001702 exon26 c.75215+48T>C 0.798722 0.9901 0.665415 0.6587 0.9884 Uncertain 8_143623459_G->T 8 143623459 143623459 G T snp 3290.77 0/1 99 250 109 141 0.56 exonic rs34364916 ADGRB1 AU synonymous SNV NM_001702 exon27 c.G3864T p.L1288L 0.148163 0.25 0.111411 0.1472 0.2358 Uncertain 8_143684655_C->T 8 143684655 143684655 C T snp 50.74 1/1 6 2 0 2 1.0 intergenic rs58986836 ADGRB1 AU 0.814896 0.9921 Uncertain 8_143694886_C->T 8 143694886 143694886 C T snp 2236.77 0/1 99 164 73 91 0.55 exonic rs140337555 ARC AU synonymous SNV NM_015193 exon1 c.G747A p.P249P 0.000077 0.0005 0.0050 Uncertain 8_143695144_G->A 8 143695144 143695144 G A snp 2857.77 1/1 99 97 0 97 1.0 exonic rs2234911 ARC AU synonymous SNV NM_015193 exon1 c.C489T p.D163D 0.491813 0.6042 0.470245 0.5353 0.6515 Uncertain 8_143695678_A->G 8 143695678 143695678 A G snp 593.77 1/1 45 20 0 20 1.0 UTR5 rs28403912 ARC AU 0.773562 0.8125 0.817261 0.7711 0.7706 Uncertain 8_143695681_G->C 8 143695681 143695681 G C snp 558.77 1/1 42 19 0 19 1.0 UTR5 rs28641083 ARC AU 0.773562 0.8125 0.820938 0.7734 0.7796 Uncertain 8_143696749_G->A 8 143696749 143696749 G A snp 1785.77 1/1 99 66 3 63 0.95 upstream rs28660666 ARC AU 1 1 Uncertain 8_143740167_A->G 8 143740167 143740167 A G snp 133.03 1/1 12 4 0 4 1.0 UTR3 JRK AU 0.49401 0.4891 Uncertain 8_143746050_C->T 8 143746050 143746050 C T snp 5324.77 1/1 99 196 0 196 1.0 exonic JRK AU nonsynonymous SNV NM_003724 exon3 c.G1426A p.G476R 0.440895 0.4841 0.361817 0.3722 0.4817 Pathogenic 8_143746069_T->C 8 143746069 143746069 T C snp 5637.77 1/1 99 201 0 201 1.0 exonic JRK AU synonymous SNV NM_003724 exon3 c.A1407G p.P469P 0.532348 0.5188 0.459108 0.4325 0.5120 Uncertain 8_143746088_CA->- 8 143746088 143746089 CA - indel 9113.73 1/1 99 203 0 203 1.0 splicing rs33951456 JRK AU NM_001279352 exon4 c.5823-1_5823+0delCA 0.9998 0.999 0.999915 1.0000 1 Pathogenic 8_143746416_A->G 8 143746416 143746416 A G snp 6499.77 1/1 99 232 0 232 1.0 exonic JRK AU synonymous SNV NM_003724 exon2 c.T1062C p.H354H 0.533347 0.5188 0.452160 0.5094 0.5679 Uncertain 8_143746701_A->G 8 143746701 143746701 A G snp 4393.77 1/1 99 153 0 153 1.0 exonic JRK AU synonymous SNV NM_003724 exon2 c.T777C p.N259N 0.526957 0.5188 0.436730 0.4874 0.5268 Uncertain 8_143746708_T->C 8 143746708 143746708 T C snp 1987.77 0/1 99 155 78 77 0.5 exonic JRK AU nonsynonymous SNV NM_003724 exon2 c.A770G p.Q257R 0.0001 0.0017 Pathogenic 8_143747271_C->G 8 143747271 143747271 C G snp 4945.77 1/1 99 169 0 169 1.0 exonic JRK AU synonymous SNV NM_003724 exon2 c.G207C p.S69S 0.396366 0.4821 0.320626 0.3594 0.4842 Uncertain 8_143761931_C->T 8 143761931 143761931 C T snp 352.77 0/1 99 49 34 15 0.31 UTR5 PSCA AU 0.405152 0.3423 0.418720 0.4626 0.3481 0 D 1.000 P -0.922 T Uncertain 8_143762135_A->C 8 143762135 143762135 A C snp 72.77 0/1 99 18 12 6 0.33 intronic PSCA AU NM_005672 exon1 c.25+154A>C 0.406749 0.3423 Uncertain 8_143762807_G->A 8 143762807 143762807 G A snp 1362.77 0/1 99 113 58 55 0.49 exonic PSCA AU nonsynonymous SNV NM_005672 exon2 c.G88A p.E30K 0.0321486 0.1071 0.010787 0.0528 0.2188 1 T 0.000 P -1.066 T 0.0 T 0.0 T Pathogenic 8_143762932_G->A 8 143762932 143762932 G A snp 1341.77 0/1 99 125 64 61 0.49 intronic PSCA AU NM_005672 exon2 c.896+80G>A 0.405152 0.3413 0.4606 0.3086 Uncertain 8_143762967_C->T 8 143762967 143762967 C T snp 934.77 0/1 99 92 49 43 0.47 intronic PSCA AU NM_005672 exon2 c.896+115C>T 0.0840655 0.1151 Uncertain 8_143763043_A->G 8 143763043 143763043 A G snp 329.77 0/1 99 26 14 12 0.46 intronic PSCA AU NM_005672 exon2 c.896+191A>G 0.401757 0.3413 Uncertain 8_143763083_A->G 8 143763083 143763083 A G snp 67.77 0/1 96 6 3 3 0.5 intronic PSCA AU NM_005672 exon2 c.896+231A>G 0.401558 0.3413 Uncertain 8_143763259_-->G 8 143763259 143763259 - G indel 424.73 0/1 99 30 16 14 0.47 intronic PSCA AU NM_005672 exon3 c.1382-79insG 0.401957 0.3413 Uncertain 8_143763490_T->C 8 143763490 143763490 T C snp 2889.77 0/1 99 246 136 110 0.45 exonic PSCA AU synonymous SNV NM_005672 exon3 c.T285C p.A95A 0.405351 0.3413 0.431917 0.4556 0.3316 Uncertain 8_143763547_C->A 8 143763547 143763547 C A snp 2801.77 0/1 99 240 127 113 0.47 exonic PSCA AU synonymous SNV NM_005672 exon3 c.C342A p.L114L 0.401957 0.3423 0.420720 0.4687 0.3517 Uncertain 8_143763618_C->G 8 143763618 143763618 C G snp 2880.77 0/1 99 229 117 112 0.49 UTR3 PSCA AU 0.402356 0.3413 0.4864 0.4214 Uncertain 8_143763622_C->T 8 143763622 143763622 C T snp 2853.77 0/1 99 228 117 111 0.49 UTR3 PSCA AU 0.401558 0.3403 0.4883 0.4270 Uncertain 8_143763690_G->A 8 143763690 143763690 G A snp 2754.77 0/1 99 238 127 111 0.47 UTR3 PSCA AU 0.403554 0.3413 0.4671 0.2961 Uncertain 8_143763750_G->A 8 143763750 143763750 G A snp 2272.77 0/1 99 213 116 97 0.46 UTR3 PSCA AU 0.401957 0.3413 0.4639 0.2778 Uncertain 8_143763757_T->G 8 143763757 143763757 T G snp 2658.77 0/1 99 225 119 106 0.47 UTR3 PSCA AU 0.401957 0.3413 0.4640 0.2676 Uncertain 8_143763958_G->A 8 143763958 143763958 G A snp 1089.77 0/1 99 67 29 38 0.57 UTR3 PSCA AU 0.401957 0.3423 0.5625 0.3429 Uncertain 8_143764001_G->A 8 143764001 143764001 G A snp 489.77 0/1 99 31 13 18 0.58 UTR3 PSCA AU 0.401757 0.3413 0.5526 0.25 Uncertain 8_143764101_C->G 8 143764101 143764101 C G snp 158.84 0/1 18 6 1 5 0.83 UTR3 PSCA AU 0.401957 0.3413 Uncertain 8_143781858_G->A 8 143781858 143781858 G A snp 624.77 0/1 99 44 18 26 0.59 UTR5 rs1048831 LY6K AU 0.482228 0.4504 0.6014 0.5582 Uncertain 8_143782044_A->G 8 143782044 143782044 A G snp 2075.77 0/1 99 238 140 98 0.41 exonic LY6K AU synonymous SNV NM_017527 exon1 c.A99G p.R33R 0.514377 0.4524 0.538121 0.5241 0.4859 1.0 P -0.959 T Likely benign 8_143783164_G->A 8 143783164 143783164 G A snp 391.77 0/1 99 39 22 17 0.44 intronic LY6K AU NM_001160355 exon2 c.1186+33G>A 0.0583067 0.1121 0.035297 0.0443 0.1629 Uncertain 8_143784275_C->T 8 143784275 143784275 C T snp 1279.77 0/1 99 108 52 56 0.52 ncRNA_exonic LOC100288181 AU 0.038139 0.1111 0.019492 0.0408 0.1230 Uncertain 8_143808667_T->C 8 143808667 143808667 T C snp 83.77 0/1 63 5 2 3 0.6 UTR5 THEM6 AU 0.490415 0.4206 Uncertain 8_143808951_C->T 8 143808951 143808951 C T snp 2348.77 0/1 99 210 112 98 0.47 exonic THEM6 AU synonymous SNV NM_016647 exon1 c.C187T p.L63L 0.488219 0.4206 0.522297 0.5171 0.4955 Uncertain 8_143809193_C->T 8 143809193 143809193 C T snp 943.77 0/1 99 75 33 42 0.56 exonic THEM6 AU synonymous SNV NM_016647 exon1 c.C429T p.G143G 0.473043 0.4196 0.433902 0.5656 0.4674 Uncertain 8_143816577_A->G 8 143816577 143816577 A G snp 83.77 0/1 69 5 2 3 0.6 intronic rs3736008 THEM6 AU NM_016647 exon2 c.7979-166A>G 0.11242 0.2649 Uncertain 8_143816702_A->C 8 143816702 143816702 A C snp 898.77 0/1 99 74 38 36 0.49 intronic rs3736009 THEM6 AU NM_016647 exon2 c.7979-41A>C 0.0419329 0.0913 0.030680 0.0478 0.0967 Uncertain 8_143823858_C->G 8 143823858 143823858 C G snp 1509.77 0/1 99 149 88 61 0.41 upstream rs2572914 SLURP1 AR 0.27516 0.4206 0.190789 Uncertain 8_143823863_G->C 8 143823863 143823863 G C snp 2035.77 0/1 99 146 59 87 0.6 upstream rs13254346 SLURP1 AR 0.305711 0.2788 Uncertain 8_143831926_G->A 8 143831926 143831926 G A snp 2004.77 0/1 99 178 93 85 0.48 intronic rs62525593 LYPD2 AU NM_205545 exon1 c.200+26G>A 0.240016 0.4028 0.174266 0.2615 0.4801 Uncertain 8_143832373_G->A 8 143832373 143832373 G A snp 305.77 0/1 99 19 6 13 0.68 intronic rs10808680 LYPD2 AU NM_205545 exon2 c.768-95G>A 0.270367 0.4048 Uncertain 8_143833850_G->A 8 143833850 143833850 G A snp 1570.77 0/1 99 126 57 69 0.55 exonic rs11775636 LYPD2 AU nonsynonymous SNV NM_205545 exon1 c.C20T p.A7V 0.249601 0.4018 0.189828 0.2128 0.4044 0.66 T 0.0 P -1.097 T 0.002 T 0.001 T Pathogenic 8_143833856_C->T 8 143833856 143833856 C T snp 1580.77 0/1 99 131 60 71 0.54 exonic rs11778314 LYPD2 AU nonsynonymous SNV NM_205545 exon1 c.G14A p.R5Q 0.234625 0.4038 0.172257 0.2082 0.4051 0.12 T 0.0 P -1.008 T 0.01 T 0.001 T Pathogenic 8_143845950_A->G 8 143845950 143845950 A G snp 586.77 0/1 99 43 22 21 0.49 UTR3 rs2585187 LYNX1 AU 0.902356 0.9226 0.9306 0.9153 Uncertain 8_143845953_T->C 8 143845953 143845953 T C snp 625.77 0/1 99 44 22 22 0.5 UTR3 rs2717554 LYNX1 AU 0.897364 0.9216 0.9300 0.9165 Uncertain 8_143845982_T->C 8 143845982 143845982 T C snp 811.77 0/1 99 62 29 33 0.53 UTR3 rs1075542 LYNX1 AU 0.373802 0.5635 0.270149 0.3148 0.5630 0 D 0.0 P -0.960 T Uncertain 8_143846593_T->C 8 143846593 143846593 T C snp 1021.77 0/1 99 72 30 42 0.58 intronic rs12541206 LYNX1 AU NM_177458 exon2 c.536+35T>C 0.382388 0.3879 0.368134 0.4202 0.4331 Uncertain 8_143849495_C->T 8 143849495 143849495 C T snp 1189.77 0/1 99 103 49 54 0.52 intronic rs79649145 LYNX1 AU NM_177458 exon3 c.5150-1677C>T 0.103834 0.1726 Uncertain 8_143849626_T->A 8 143849626 143849626 T A snp 307.78 1/1 24 9 0 9 1.0 intronic rs7006366 LYNX1 AU NM_177458 exon3 c.5150-1546T>A 1 1 Uncertain 8_143850913_G->T 8 143850913 143850913 G T snp 44.77 0/1 31 3 1 2 0.67 intronic rs2289072 LYNX1 AU NM_177458 exon3 c.5150-259G>T 0.103634 0.1726 Uncertain 8_143857265_G->T 8 143857265 143857265 G T snp 3526.77 1/1 99 133 0 133 1.0 intronic rs2585125 LYNX1 AU NM_023946 exon4 c.11301-58G>T 0.953874 1 0.960359 Uncertain 8_143857441_-->GG 8 143857441 143857441 - GG indel 1177.73 1/1 72 26 0 26 1.0 UTR5 rs3214637 LYNX1 AU 0.900759 0.7956 0.938779 Uncertain 8_143921804_C->T 8 143921804 143921804 C T snp 1716.77 0/1 99 155 81 74 0.48 intronic rs3750246 GML AU 0.286142 0.2887 0.303552 0.3653 0.2850 Uncertain 8_143921812_A->G 8 143921812 143921812 A G snp 1834.77 0/1 99 172 91 81 0.47 intronic rs3750247 GML AU 0.429313 0.376 0.425496 0.4336 0.3645 Uncertain 8_143922620_C->T 8 143922620 143922620 C T snp 1297.77 0/1 99 123 69 54 0.44 exonic rs3764795 GML AU nonsynonymous SNV NM_002066 exon3 c.C160T p.R54C 0.209665 0.4772 0.086960 0.1248 0.4859 0.08 T 0.995 P -0.915 T 1.0 D 0.954 D Pathogenic 8_143922788_C->T 8 143922788 143922788 C T snp 74.77 0/1 99 9 6 3 0.33 intronic rs3802226 GML AU NM_002066 exon3 c.788+147C>T 0.285942 0.2867 Uncertain 8_143956561_G->A 8 143956561 143956561 G A snp 2881.77 0/1 99 248 126 122 0.49 exonic CYP11B1 AR,AD nonsynonymous SNV NM_000497 exon8 c.C1210T p.R404C 0.07 T 1 N -0.901 T 0.754 T 0.601 P Pathogenic 8_143956693_G->A 8 143956693 143956693 G A snp 727.77 0/1 99 68 37 31 0.46 exonic rs4541 CYP11B1 AR,AD nonsynonymous SNV NM_000497 exon7 c.C1157T p.A386V 0.024450 0.0739 0.3965 0.6 T 0.0 P -1.044 T 0.009 T 0.01 T ID=HM972177;DIS=Adrenal hyperplasia;TAG=DM?;PUB=HGOL DM? Pathogenic 8_143956803_G->C 8 143956803 143956803 G C snp 60.77 0/1 89 38 29 9 0.24 intronic rs28418310 CYP11B1 AR,AD NM_000497 exon3 c.940+75G>C 0.160144 0.4335 0.0516 0.2541 Uncertain 8_143956808_A->C 8 143956808 143956808 A C snp 862.77 1/1 66 38 0 38 1.0 intronic rs6395 CYP11B1 AR,AD NM_000497 exon3 c.940+80A>C 0.741414 0.8482 0.6130 0.7398 Uncertain 8_143956877_G->A 8 143956877 143956877 G A snp 69.77 0/1 98 27 19 8 0.3 intronic rs6422 CYP11B1 AR,AD NM_000497 exon3 c.940+149G>A Uncertain 8_143956907_G->A 8 143956907 143956907 G A snp 56.77 0/1 85 21 16 5 0.24 intronic rs6393 CYP11B1 AR,AD NM_000497 exon3 c.940+179G>A Uncertain 8_143956925_T->C 8 143956925 143956925 T C snp 387.77 1/1 30 16 0 16 1.0 intronic rs6392 CYP11B1 AR,AD NM_000497 exon3 c.940+197T>C 0.759784 0.8472 Uncertain 8_143956965_A->G 8 143956965 143956965 A G snp 126.03 1/1 12 4 0 4 1.0 intronic rs6391 CYP11B1 AR,AD NM_000497 exon4 c.1339-162A>G 0.759585 0.8472 Uncertain 8_143957163_C->G 8 143957163 143957163 C G snp 1212.77 0/1 99 136 88 48 0.35 exonic rs6403 CYP11B1 AR,AD synonymous SNV NM_000497 exon6 c.G1086C p.L362L 0.145567 0.4395 0.019760 0.0802 0.4560 Uncertain 8_143957405_A->C 8 143957405 143957405 A C snp 5590.77 1/1 99 182 0 182 1.0 intronic rs6471570 CYP11B1 AR,AD NM_000497 exon4 c.1506+111A>C 0.684704 0.8512 0.6483 0.8502 Uncertain 8_143957856_G->A 8 143957856 143957856 G A snp 3272.77 1/1 99 112 0 112 1.0 intronic rs7822986 CYP11B1 AR,AD NM_000497 exon5 c.2023+45G>A 0.685304 0.8472 0.580308 0.6398 0.8453 Uncertain 8_143957886_A->C 8 143957886 143957886 A C snp 2281.77 1/1 99 71 0 71 1.0 intronic rs10105643 CYP11B1 AR,AD NM_000497 exon5 c.2023+75A>C 0.759385 0.8472 Uncertain 8_143957958_G->A 8 143957958 143957958 G A snp 299.78 1/1 24 9 0 9 1.0 intronic rs12674916 CYP11B1 AR,AD NM_000497 exon6 c.2309-139G>A 0.602436 0.7718 Uncertain 8_143957979_A->C 8 143957979 143957979 A C snp 139.03 1/1 12 4 0 4 1.0 intronic rs10956991 CYP11B1 AR,AD NM_000497 exon6 c.2309-118A>C 0.618211 0.8264 Uncertain 8_143958427_C->T 8 143958427 143958427 C T snp 2680.77 1/1 99 91 0 91 1.0 intronic rs6387 CYP11B1 AR,AD NM_000497 exon7 c.2650-11C>T 0.563698 0.7589 0.484469 0.5688 0.7638 Uncertain 8_143959188_G->T 8 143959188 143959188 G T snp 1328.77 0/1 99 97 44 53 0.55 intronic rs9657020 CYP11B1 AR,AD NM_000497 exon7 c.2850+550G>T 0.146166 0.4385 0.0818 0.4535 0.03 T 1 N -0.909 T 0.011 T 0.001 T Uncertain 8_143959250_T->C 8 143959250 143959250 T C snp 3204.83 1/1 99 117 0 117 1.0 intronic rs7818826 CYP11B1 AR,AD NM_000497 exon7 c.2850+612T>C 0.591054 0.8065 0.5889 0.8253 Uncertain 8_143959289_T->C 8 143959289 143959289 T C snp 2953.77 1/1 99 107 0 107 1.0 intronic rs7818953 CYP11B1 AR,AD NM_000497 exon7 c.2850+651T>C 0.769768 0.8492 0.658354 0.6475 0.8441 Uncertain 8_143959412_G->A 8 143959412 143959412 G A snp 64.77 0/1 93 13 9 4 0.31 intronic rs28551743 CYP11B1 AR,AD NM_000497 exon7 c.2850+774G>A 0.421725 0.3194 Uncertain 8_143960597_G->A 8 143960597 143960597 G A snp 3070.77 0/1 99 250 124 126 0.5 exonic rs5283 CYP11B1 AR,AD synonymous SNV NM_000497 exon2 c.C246T p.D82D 0.302716 0.3115 0.328310 0.3979 0.3030 Uncertain 8_143960971_A->T 8 143960971 143960971 A T snp 1006.77 0/1 99 99 58 41 0.41 intronic rs6388 CYP11B1 AR,AD NM_000497 exon9 c.5202-19A>T 0.146565 0.4395 0.020837 0.0799 0.4551 Uncertain 8_143961005_T->C 8 143961005 143961005 T C snp 4387.77 1/1 99 165 0 165 1.0 exonic rs6410 CYP11B1 AR,AD synonymous SNV NM_000497 exon1 c.A225G p.L75L 0.584065 0.752 0.507689 0.5724 0.7586 Uncertain 8_143961102_C->T 8 143961102 143961102 C T snp 2153.77 0/1 99 211 112 99 0.47 exonic rs4534 CYP11B1 AR,AD nonsynonymous SNV NM_000497 exon1 c.G128A p.R43Q 0.147165 0.4425 0.020837 0.0804 0.4589 0.34 T 0.0 P -1.029 T 0.0 T 0.001 T ID=CM1211858;DIS=Reduced expression;TAG=FP;PUB=17121536 FP Pathogenic 8_143961293_A->G 8 143961293 143961293 A G snp 127.78 0/1 27 6 1 5 0.83 upstream rs5280 CYP11B1 AR,AD 0.146565 0.4395 Uncertain 8_143993640_C->T 8 143993640 143993640 C T snp 661.77 1/1 51 17 0 17 1.0 intronic rs6433 CYP11B2 AU,AR NM_000498 exon1 c.114+131C>T 0.773962 0.8423 Uncertain 8_143993660_A->G 8 143993660 143993660 A G snp 227.77 0/1 49 9 2 7 0.78 intronic rs6432 CYP11B2 AU,AR NM_000498 exon1 c.114+151A>G 0.169329 0.499 Uncertain 8_143994321_T->C 8 143994321 143994321 T C snp 1296.77 1/1 74 49 6 43 0.88 intronic rs6435 CYP11B2 AU,AR NM_000498 exon3 c.906+20T>C 0.5776 0.6809 Uncertain 8_143994349_T->C 8 143994349 143994349 T C snp 885.77 1/1 31 37 6 31 0.84 intronic rs6397 CYP11B2 AU,AR NM_000498 exon3 c.906+48T>C 0.4369 0.5194 Uncertain 8_143994361_T->A 8 143994361 143994361 T A snp 343.77 0/1 99 31 16 15 0.48 intronic rs4736320 CYP11B2 AU,AR NM_000498 exon3 c.906+60T>A Uncertain 8_143994388_G->C 8 143994388 143994388 G C snp 174.77 0/1 99 16 9 7 0.44 intronic rs6429 CYP11B2 AU,AR NM_000498 exon3 c.906+87G>C 0.44389 0.3482 Uncertain 8_143994391_G->C 8 143994391 143994391 G C snp 170.77 0/1 99 16 9 7 0.44 intronic rs79410128 CYP11B2 AU,AR NM_000498 exon3 c.906+90G>C 0.44389 0.3482 Uncertain 8_143994396_A->T 8 143994396 143994396 A T snp 98.77 0/1 99 14 9 5 0.36 intronic rs79201878 CYP11B2 AU,AR NM_000498 exon3 c.906+95A>T 0.45607 0.3522 Uncertain 8_143994398_A->G 8 143994398 143994398 A G snp 98.77 0/1 99 14 9 5 0.36 intronic rs80062072 CYP11B2 AU,AR NM_000498 exon3 c.906+97A>G 0.45607 0.3522 Uncertain 8_143994399_T->C 8 143994399 143994399 T C snp 101.77 0/1 99 14 9 5 0.36 intronic rs74838461 CYP11B2 AU,AR NM_000498 exon3 c.906+98T>C 0.45607 0.3522 Uncertain 8_143994419_-->G 8 143994419 143994419 - G indel 155.73 0/1 99 8 3 5 0.63 intronic rs5895735 CYP11B2 AU,AR NM_000498 exon3 c.906+118insG 0.493411 0.3651 Uncertain 8_143994427_A->G 8 143994427 143994427 A G snp 165.9 1/1 15 8 0 8 1.0 intronic rs6394 CYP11B2 AU,AR NM_000498 exon3 c.906+126A>G 0.889776 0.998 Uncertain 8_143994702_G->T 8 143994702 143994702 G T snp 2265.77 1/1 99 59 0 59 1.0 exonic rs4538 CYP11B2 AU,AR synonymous SNV NM_000498 exon6 c.C1120A p.R374R 0.607628 0.8065 0.534154 0.5922 0.8016 Uncertain 8_143994979_A->- 8 143994979 143994979 A - indel 1165.73 0/1 99 129 44 85 0.66 intronic rs36018151 CYP11B2 AU,AR NM_000498 exon4 c.1472+112delA 0.704872 0.4355 Uncertain 8_143994981_A->C 8 143994981 143994981 A C snp 1699.77 0/1 99 100 45 55 0.55 intronic rs61248603 CYP11B2 AU,AR NM_000498 exon4 c.1472+114A>C 0.823283 0.4762 Uncertain 8_143994982_A->G 8 143994982 143994982 A G snp 1701.77 0/1 99 100 45 55 0.55 intronic rs57117244 CYP11B2 AU,AR NM_000498 exon4 c.1472+115A>G 0.823083 0.4762 Uncertain 8_143995761_C->T 8 143995761 143995761 C T snp 2042.77 0/1 99 193 97 96 0.5 exonic rs4536 CYP11B2 AU,AR synonymous SNV NM_000498 exon5 c.G873A p.A291A 0.823482 0.4752 0.969322 0.9094 0.4798 Uncertain 8_143996363_A->G 8 143996363 143996363 A G snp 650.77 0/1 99 56 31 25 0.45 intronic rs6418 CYP11B2 AU,AR NM_000498 exon6 c.2929+39A>G 0.355032 0.2877 0.034533 0.3815 0.2607 Uncertain 8_143996365_G->A 8 143996365 143996365 G A snp 619.77 0/1 99 53 30 23 0.43 intronic rs6399 CYP11B2 AU,AR NM_000498 exon6 c.2929+41G>A 0.351038 0.2867 0.030914 0.3793 0.2608 Uncertain 8_143996539_T->C 8 143996539 143996539 T C snp 964.77 0/1 99 91 47 44 0.48 exonic rs4539 CYP11B2 AU,AR nonsynonymous SNV NM_000498 exon3 c.A518G p.K173R 0.346446 0.2867 0.376596 0.4189 0.2930 0.9 T 0.0 P -0.999 T 0.0 T 0.001 T ID=CM962423;DIS=Low renin hypertension, association with;TAG=DP;PUB=8954040 DP Pathogenic 8_143996553_G->A 8 143996553 143996553 G A snp 937.77 0/1 99 91 48 43 0.47 exonic rs4546 CYP11B2 AU,AR synonymous SNV NM_000498 exon3 c.C504T p.F168F 0.345447 0.2867 0.375481 0.4189 0.2934 Uncertain 8_143997131_C->T 8 143997131 143997131 C T snp 209.77 0/1 99 15 8 7 0.47 intronic rs10086846 CYP11B2 AU,AR NM_000498 exon7 c.3266+470C>T 0.430112 0.3234 Uncertain 8_143997415_T->C 8 143997415 143997415 T C snp 74.77 0/1 99 6 3 3 0.5 intronic rs4072020 CYP11B2 AU,AR NM_000498 exon7 c.3266+754T>C 0.345048 0.2877 Uncertain 8_143997877_C->G 8 143997877 143997877 C G snp 983.77 0/1 99 79 32 47 0.59 intronic rs7461740 CYP11B2 AU,AR NM_000498 exon8 c.5079-597C>G 0.33766 0.2867 0.4327 0.3562 0 D 0.0 P -0.973 T Uncertain 8_143997935_T->C 8 143997935 143997935 T C snp 350.77 0/1 99 39 24 15 0.38 intronic rs10099658 CYP11B2 AU,AR NM_000498 exon8 c.5079-539T>C 0.34345 0.2837 0.3903 0.3261 Uncertain 8_143997957_C->T 8 143997957 143997957 C T snp 47.77 0/1 76 21 16 5 0.24 intronic rs10090630 CYP11B2 AU,AR NM_000498 exon8 c.5079-517C>T 0.341653 0.2817 0.0036 0.0089 Uncertain 8_143998063_T->C 8 143998063 143998063 T C snp 170.9 1/1 15 6 0 6 1.0 intronic rs7836572 CYP11B2 AU,AR NM_000498 exon8 c.5079-411T>C 0.645966 0.7133 Uncertain 8_144097220_C->T 8 144097220 144097220 C T snp 37.77 0/1 66 7 4 3 0.43 ncRNA_intronic rs62525084 LOC100133669 AU 0.416733 0.25 Uncertain 8_144097251_GGGGGAGGGAGTCCTGTGTGAG->- 8 144097251 144097272 GGGGGAGGGAGTCCTGTGTGAG - indel 748.73 0/1 99 15 9 6 0.4 ncRNA_intronic LOC100133669 AU Uncertain 8_144097333_C->T 8 144097333 144097333 C T snp 376.77 0/1 99 37 20 17 0.46 ncRNA_intronic rs62525085 LOC100133669 AU 0.476238 0.2649 Uncertain 8_144097377_C->G 8 144097377 144097377 C G snp 453.77 0/1 99 43 23 20 0.47 ncRNA_intronic rs62525087 LOC100133669 AU 0.474042 0.2599 Uncertain 8_144099678_G->A 8 144099678 144099678 G A snp 1730.77 0/1 99 149 80 69 0.46 ncRNA_exonic rs17061979 LOC100133669 AU 0.0824681 0.1845 0.1092 0.1591 Uncertain 8_144102747_C->T 8 144102747 144102747 C T snp 3156.77 0/1 99 250 130 120 0.48 exonic rs11547127 LY6E AU synonymous SNV NM_001127213 exon3 c.C69T p.C23C 0.0834665 0.1845 0.035291 0.0668 0.1683 Uncertain 8_144124609_T->C 8 144124609 144124609 T C snp 5790.77 1/1 99 205 0 205 1.0 exonic rs11136300 C8orf31 AU nonsynonymous SNV NM_173687 exon3 c.T116C p.L39P 0.705272 0.7282 0.667077 0.6707 0.7448 0.3 T 0.0 P -0.982 T 0.001 T 0.006 T Pathogenic 8_144124878_C->T 8 144124878 144124878 C T snp 90.28 1/1 9 3 0 3 1.0 intronic rs35803677 C8orf31 AU NM_173687 exon3 c.261+199C>T 0.461661 0.5109 Uncertain 8_144125727_T->A 8 144125727 144125727 T A snp 1452.77 1/1 99 45 0 45 1.0 intronic rs6997455 C8orf31 AU NM_173687 exon4 c.1647-338T>A 0.69389 0.7302 Uncertain 8_144126244_T->C 8 144126244 144126244 T C snp 1878.77 1/1 99 65 0 65 1.0 intronic rs4612316 C8orf31 AU NM_173687 exon4 c.1816+10T>C 0.6877 0.7302 0.648108 0.6721 0.7543 Uncertain 8_144130430_C->G 8 144130430 144130430 C G snp 50.74 1/1 6 2 0 2 1.0 intronic rs12677840 C8orf31 AU NM_173687 exon5 c.6207-195C>G 0.685304 0.7292 Uncertain 8_144130550_C->G 8 144130550 144130550 C G snp 2329.77 1/1 99 80 0 80 1.0 intronic rs12677862 C8orf31 AU NM_173687 exon5 c.6207-75C>G 0.807308 0.9117 0.738721 Uncertain 8_144130643_G->A 8 144130643 144130643 G A snp 1806.77 0/1 99 152 75 77 0.51 exonic rs78140118 C8orf31 AU nonsynonymous SNV NM_173687 exon5 c.G373A p.G125R 0.00399361 0.0198 0.000154 0.0016 0.0198 0 D 1 N -0.978 T 0.999 D 0.98 D Pathogenic 8_144162364_C->T 8 144162364 144162364 C T snp 357.77 1/1 30 11 0 11 1.0 intergenic rs6993880 C8orf31 AU 0.476837 0.502 Uncertain 8_144295154_C->T 8 144295154 144295154 C T snp 1117.77 0/1 99 91 44 47 0.52 exonic rs61747644 GPIHBP1 AR synonymous SNV NM_178172 exon1 c.C12T p.L4L 0.141174 0.1667 0.140905 0.2220 0.2304 Uncertain 8_144295321_C->G 8 144295321 144295321 C G snp 297.78 1/1 24 8 0 8 1.0 intronic rs13253453 GPIHBP1 AR NM_178172 exon1 c.52+127C>G 0.791334 0.9504 Uncertain 8_144295782_G->T 8 144295782 144295782 G T snp 691.77 0/1 99 78 45 33 0.42 exonic rs11538388 GPIHBP1 AR synonymous SNV NM_178172 exon2 c.G138T p.V46V 0.358826 0.4296 0.359414 0.3872 0.4717 Uncertain 8_144332012_T->C 8 144332012 144332012 T C snp 1196.77 0/1 99 106 55 51 0.48 exonic rs6558339 ZFP41 AU nonsynonymous SNV NM_001271156 exon2 c.T2C p.M1T 0.86881 0.8482 0.825746 0.8451 0.8495 Pathogenic 8_144332082_T->C 8 144332082 144332082 T C snp 1667.77 0/1 99 131 57 74 0.56 exonic rs11136275 ZFP41 AU synonymous SNV NM_001271156 exon2 c.T72C p.S24S 0.616214 0.744 0.525992 0.5670 0.7561 Uncertain 8_144351632_A->G 8 144351632 144351632 A G snp 4198.77 1/1 99 143 0 143 1.0 exonic rs6558341 GLI4 AU synonymous SNV NM_138465 exon2 c.A66G p.P22P 0.980232 1 0.955482 0.9521 0.9999 Uncertain 8_144357213_G->C 8 144357213 144357213 G C snp 2445.77 0/1 99 218 113 105 0.48 intronic rs3817675 GLI4 AU NM_138465 exon3 c.5406+241G>C 0.476238 0.6746 0.5785 0.6557 0 D 0.947 P -0.948 T Uncertain 8_144357479_C->G 8 144357479 144357479 C G snp 1544.77 0/1 99 133 68 65 0.49 intronic rs3812433 GLI4 AU NM_138465 exon3 c.5406+507C>G 0.50619 0.6746 0.5122 0.6429 Uncertain 8_144357975_C->T 8 144357975 144357975 C T snp 479.77 0/1 99 42 22 20 0.48 intronic rs2293924 GLI4 AU NM_138465 exon4 c.6500-91C>T 0.897564 0.8522 Uncertain 8_144357992_A->G 8 144357992 144357992 A G snp 671.77 0/1 99 60 29 31 0.52 intronic rs2293923 GLI4 AU NM_138465 exon4 c.6500-74A>G 0.523562 0.6756 Uncertain 8_144358381_G->A 8 144358381 144358381 G A snp 830.77 0/1 99 86 51 35 0.41 exonic rs1056148 GLI4 AU nonsynonymous SNV NM_138465 exon4 c.G538A p.A180T 0.469649 0.6577 0.336927 0.6074 0.7595 0.07 T 0.0 P -1.052 T 0.0 T 0.0 T Pathogenic 8_144358473_C->T 8 144358473 144358473 C T snp 1702.77 0/1 99 171 95 76 0.44 exonic rs201598073 GLI4 AU synonymous SNV NM_138465 exon4 c.C630T p.P210P 0.00519169 0.0238 0.000233 0.0012 0.0127 Uncertain 8_144378184_C->G 8 144378184 144378184 C G snp 1403.77 0/1 99 142 77 65 0.46 exonic rs2235115 ZNF696 AU synonymous SNV NM_030895 exon3 c.C339G p.G113G 0.506589 0.6726 0.364137 0.6289 0.7737 Uncertain 8_144378868_A->G 8 144378868 144378868 A G snp 1522.77 0/1 99 156 85 71 0.46 exonic rs7386259 ZNF696 AU synonymous SNV NM_030895 exon3 c.A1023G p.R341R 0.899561 0.8403 0.872468 0.8502 0.8206 Uncertain 8_144391452_G->A 8 144391452 144391452 G A snp 231.77 0/1 99 25 17 8 0.32 downstream rs11136285 TOP1MT AU 0.615615 0.7619 Uncertain 8_144391728_A->G 8 144391728 144391728 A G snp 1401.77 0/1 99 93 36 57 0.61 intronic rs7386475 TOP1MT AU NM_001258446 exon1 c.103+15A>G 0.584665 0.7976 0.465401 0.5841 0.8099 Uncertain 8_144391796_G->A 8 144391796 144391796 G A snp 587.77 0/1 99 29 10 19 0.66 intronic rs10088567 TOP1MT AU NM_001258446 exon1 c.103+83G>A 0.458866 0.6706 Uncertain 8_144391873_A->G 8 144391873 144391873 A G snp 420.77 0/1 99 27 10 17 0.63 intronic rs10105378 TOP1MT AU NM_001258446 exon1 c.103+160A>G 0.573482 0.7609 0.6306 0.79 Uncertain 8_144391924_C->T 8 144391924 144391924 C T snp 617.77 0/1 99 56 28 28 0.5 intronic rs10099789 TOP1MT AU NM_001258446 exon1 c.103+211C>T 0.574481 0.7609 0.6355 0.7663 Uncertain 8_144391925_T->C 8 144391925 144391925 T C snp 675.77 0/1 99 58 29 29 0.5 intronic rs13277302 TOP1MT AU NM_001258446 exon1 c.103+212T>C 0.597843 0.7609 0.6412 0.7610 Uncertain 8_144391930_G->A 8 144391930 144391930 G A snp 732.77 0/1 99 58 28 30 0.52 intronic rs10091561 TOP1MT AU NM_001258446 exon1 c.103+217G>A 0.459665 0.6716 0.5325 0.6857 Uncertain 8_144392368_G->A 8 144392368 144392368 G A snp 1191.77 0/1 99 78 33 45 0.58 exonic rs2293925 TOP1MT AU nonsynonymous SNV NM_052963 exon13 c.C1573T p.R525W 0.456869 0.6716 0.325281 0.5400 0.7402 0.02 T 0.000 P -0.937 T 0.998 D 0.821 D ID=CM066250;DIS=Leukemia, risk, association with;TAG=DP;PUB=16574953 DP Pathogenic 8_144397798_-->GA 8 144397798 144397798 - GA indel 968.73 0/1 99 37 13 24 0.65 intronic rs112961059 TOP1MT AU NM_001258446 exon3 c.6286-98insGA 0.577875 0.7619 Uncertain 8_144398029_A->G 8 144398029 144398029 A G snp 727.77 0/1 99 44 18 26 0.59 intronic rs13275896 TOP1MT AU NM_001258446 exon3 c.6381+38A>G 0.604832 0.7619 0.497078 0.5955 0.7730 Uncertain 8_144398123_G->C 8 144398123 144398123 G C snp 633.77 0/1 99 60 34 26 0.43 intronic rs2293928 TOP1MT AU NM_001258446 exon4 c.6558-45G>C 0.458067 0.6726 0.325311 0.4832 0.7071 Uncertain 8_144398132_T->C 8 144398132 144398132 T C snp 679.77 0/1 99 68 41 27 0.4 intronic rs2293927 TOP1MT AU NM_001258446 exon4 c.6558-36T>C 0.577875 0.7619 0.465324 0.5810 0.7714 Uncertain 8_144398396_C->T 8 144398396 144398396 C T snp 361.77 0/1 99 29 15 14 0.48 intronic rs2293926 TOP1MT AU NM_001258446 exon4 c.6686+100C>T 0.459465 0.6726 Uncertain 8_144399857_C->- 8 144399857 144399857 C - indel 242.73 0/1 99 16 7 9 0.56 intronic rs3215410 TOP1MT AU NM_001258446 exon5 c.8282-35delC 0.8629 0.8393 Uncertain 8_144399885_A->C 8 144399885 144399885 A C snp 453.77 0/1 99 31 14 17 0.55 intronic rs2272637 TOP1MT AU NM_001258446 exon5 c.8282-7A>C 0.575679 0.752 0.462934 0.5805 0.7582 Uncertain 8_144399886_G->T 8 144399886 144399886 G T snp 478.77 0/1 99 32 14 18 0.56 intronic rs2272636 TOP1MT AU NM_001258446 exon5 c.8282-6G>T 0.575679 0.752 0.463703 0.5802 0.7584 Uncertain 8_144400089_C->T 8 144400089 144400089 C T snp 1208.77 0/1 99 100 44 56 0.56 intronic rs2272634 TOP1MT AU NM_001258446 exon5 c.8397+82C>T 0.459465 0.6726 0.4890 0.7117 Uncertain 8_144403292_C->T 8 144403292 144403292 C T snp 608.77 0/1 99 61 36 25 0.41 intronic rs12680237 TOP1MT AU NM_001258446 exon7 c.11760-78C>T 0.430511 0.6528 Uncertain 8_144403628_C->T 8 144403628 144403628 C T snp 149.77 0/1 63 7 2 5 0.71 intronic rs62524730 TOP1MT AU NM_001258446 exon7 c.11946+72C>T 0.357428 0.5179 Uncertain 8_144406881_G->A 8 144406881 144406881 G A snp 1772.77 0/1 99 178 103 75 0.42 intronic rs12680498 TOP1MT AU NM_001258446 exon9 c.15189+82G>A 0.454473 0.6706 Uncertain 8_144409934_C->A 8 144409934 144409934 C A snp 1208.77 0/1 99 103 54 49 0.48 intronic rs35096181 TOP1MT AU NM_001258446 exon11 c.16904+1420C>A 0.73143 0.745 0.7723 0.7015 Uncertain 8_144409938_-->G 8 144409938 144409938 - G indel 1758.73 0/1 99 103 51 52 0.5 intronic rs11424162 TOP1MT AU NM_001258446 exon11 c.16904+1424insG 0.73123 0.745 0.7706 0.7029 Uncertain 8_144411759_T->C 8 144411759 144411759 T C snp 174.9 1/1 15 6 0 6 1.0 intronic rs3812436 TOP1MT AU NM_001258446 exon12 c.20031+118T>C 0.619209 0.7341 Uncertain 8_144411767_C->A 8 144411767 144411767 C A snp 80.77 0/1 30 5 1 4 0.8 intronic rs2467894 TOP1MT AU NM_001258446 exon12 c.20031+126C>A 0.626997 0.5248 Uncertain 8_144413416_G->A 8 144413416 144413416 G A snp 1152.77 0/1 99 111 62 49 0.44 exonic rs2450772 TOP1MT AU synonymous SNV NM_052963 exon2 c.C216T p.D72D 0.1877 0.0813 0.212748 0.1259 0.0633 Uncertain 8_144414616_C->T 8 144414616 144414616 C T snp 43.77 0/1 72 7 4 3 0.43 intronic rs34268352 TOP1MT AU NM_001258446 exon13 c.21899+1107C>T 0.048123 0.0813 0.0776 0.0846 Uncertain 8_144416901_A->C 8 144416901 144416901 A C snp 1205.77 0/1 99 126 67 59 0.47 intronic rs2450775 TOP1MT AU NM_052963 exon14 c.25299-8A>C 0.235423 0.0813 0.248960 0.1256 0.0621 Uncertain 8_144417051_A->G 8 144417051 144417051 A G snp 139.03 1/1 12 4 0 4 1.0 UTR5 rs2956274 TOP1MT AU 0.88099 0.7808 0.895808 0.8881 0.7821 Uncertain 8_144425221_A->G 8 144425221 144425221 A G snp 158.77 0/1 99 8 3 5 0.63 intergenic rs7817165 TOP1MT AU 0.821286 0.7083 Uncertain 8_144425247_C->A 8 144425247 144425247 C A snp 1012.77 1/1 75 26 0 26 1.0 intergenic rs7837655 TOP1MT AU 0.826278 0.7847 Uncertain 8_144457746_C->A 8 144457746 144457746 C A snp 1000.77 0/1 99 100 53 47 0.47 exonic rs34876718 RHPN1 AU synonymous SNV NM_052924 exon2 c.C84A p.I28I 0.0583067 0.0813 0.075731 0.0833 0.0643 Uncertain 8_144459224_GTGTGTGCGC->- 8 144459224 144459233 GTGTGTGCGC - indel 996.73 0/1 71 10 1 9 0.9 intronic rs375548898 RHPN1 AU NM_052924 exon4 c.8392-325_8392-316delGTGTGTGCGC Uncertain 8_144459329_C->T 8 144459329 144459329 C T snp 1057.77 0/1 99 107 58 49 0.46 intronic rs901760 RHPN1 AU NM_052924 exon4 c.8392-220C>T 0.624002 0.6925 Uncertain 8_144461046_C->T 8 144461046 144461046 C T snp 2131.77 0/1 99 201 107 94 0.47 intronic rs71520515 RHPN1 AU NM_052924 exon7 c.9924-35C>T 0.0585064 0.0813 0.075682 0.1470 0.1529 Uncertain 8_144462169_A->G 8 144462169 144462169 A G snp 4606.77 1/1 99 164 0 164 1.0 intronic rs3812440 RHPN1 AU NM_052924 exon9 c.10998+14A>G 0.764577 0.7778 0.759479 0.8091 0.7659 Uncertain 8_144463267_C->T 8 144463267 144463267 C T snp 573.77 0/1 99 31 12 19 0.61 intronic rs13275994 RHPN1 AU NM_052924 exon12 c.12280-170C>T 0.822085 0.9097 Uncertain 8_144463686_C->T 8 144463686 144463686 C T snp 267.77 0/1 99 18 8 10 0.56 intronic rs3817720 RHPN1 AU NM_052924 exon13 c.12584-55C>T 0.6248 0.6954 Uncertain 8_144511954_TGG->- 8 144511954 144511956 TGG - indel 2189.73 1/1 99 67 0 67 1.0 exonic rs141816879 MAFA AU nonframeshift deletion NM_201589 exon1 c.621_623del p.207_208del 0.8193 0.8284 ID=COSM128726;OCCURENCE=1(breast),1(pancreas),1(liver),2(upper_aerodigestive_tract) Uncertain 8_144511995_A->G 8 144511995 144511995 A G snp 1276.77 1/1 90 47 0 47 1.0 exonic rs1872900 MAFA AU synonymous SNV NM_201589 exon1 c.T582C p.H194H 0.994609 1 0.994672 0.9989 1 Uncertain 8_144523018_G->A 8 144523018 144523018 G A snp 237.84 0/1 18 10 1 9 0.9 intronic rs2294115 ZC3H3 AU NM_015117 exon3 c.2880-87G>A 0.55012 0.4891 Uncertain 8_144523323_G->A 8 144523323 144523323 G A snp 860.77 0/1 99 67 30 37 0.55 intronic rs2294114 ZC3H3 AU NM_015117 exon3 c.3065+33G>A 0.55012 0.4891 0.689878 0.6405 0.6098 Uncertain 8_144523437_G->C 8 144523437 144523437 G C snp 52.74 1/1 6 2 0 2 1.0 intronic rs2294112 ZC3H3 AU NM_015117 exon3 c.3065+147G>C 0.551518 0.4891 Uncertain 8_144566969_C->T 8 144566969 144566969 C T snp 1025.77 0/1 99 75 34 41 0.55 intronic rs2294119 ZC3H3 AU NM_015117 exon8 c.37530+9214C>T 0.177716 0.4583 0.2986 0.5741 Uncertain 8_144618379_A->G 8 144618379 144618379 A G snp 349.78 1/1 27 9 0 9 1.0 intronic rs11774857 ZC3H3 AU NM_015117 exon10 c.98201-47A>G 0.997804 1 0.997685 0.9992 0.9998 Uncertain 8_144620183_T->C 8 144620183 144620183 T C snp 2326.77 1/1 99 78 0 78 1.0 exonic rs4874147 ZC3H3 AU nonsynonymous SNV NM_015117 exon2 c.A1354G p.S452G 0.775958 0.9256 0.716131 0.7479 0.9218 1 T 0.0 P -1.016 T 0.0 T 0.0 T ID=CM066263;DIS=Leukemia, risk, association with;TAG=DP;PUB=16574953 DP Pathogenic 8_144620342_T->C 8 144620342 144620342 T C snp 1288.77 0/1 99 124 69 55 0.44 exonic rs1318196 ZC3H3 AU nonsynonymous SNV NM_015117 exon2 c.A1195G p.S399G 0.417332 0.2133 0.387958 0.3672 0.2184 1 T 0.0 P -0.987 T 0.0 T 0.0 T Pathogenic 8_144620855_C->A 8 144620855 144620855 C A snp 3478.77 0/1 99 250 112 138 0.55 exonic rs4873802 ZC3H3 AU nonsynonymous SNV NM_015117 exon2 c.G682T p.A228S 0.149361 0.0804 0.143462 0.1941 0.0877 0.79 T 0.0 P -0.916 T 0.068 T 0.009 T Pathogenic 8_144621084_T->G 8 144621084 144621084 T G snp 2635.77 0/1 99 199 92 107 0.54 exonic rs3750207 ZC3H3 AU nonsynonymous SNV NM_015117 exon2 c.A453C p.E151D 0.416534 0.2133 0.387581 0.3693 0.2206 1 T 0.0 P -1.013 T 0.0 T 0.0 T Pathogenic 8_144623574_T->C 8 144623574 144623574 T C snp 1924.77 0/1 99 203 120 83 0.41 exonic rs2242093 ZC3H3 AU nonsynonymous SNV NM_015117 exon1 c.A18G p.I6M 0.174321 0.4573 0.116864 0.1701 0.4618 0.2 T 0.000 P -0.929 T 0.081 T 0.023 T Pathogenic 8_144623735_G->C 8 144623735 144623735 G C snp 936.77 1/1 69 28 0 28 1.0 upstream rs2242092 ZC3H3 AU 0.59365 0.6706 Uncertain 8_144636949_T->C 8 144636949 144636949 T C snp 5138.77 1/1 99 173 0 173 1.0 intronic rs7844860 GSDMD AU 0.598642 0.6726 Uncertain 8_144640506_G->C 8 144640506 144640506 G C snp 1078.77 0/1 99 111 61 50 0.45 UTR5 rs80346174 GSDMD AU 0.140775 0.0794 0.2211 0.0588 Uncertain 8_144641161_A->G 8 144641161 144641161 A G snp 1178.77 1/1 84 47 0 47 1.0 intronic rs4292703 GSDMD AU 0.702676 0.5774 Uncertain 8_144641313_G->A 8 144641313 144641313 G A snp 46.77 0/1 70 5 2 3 0.6 intronic rs7840166 GSDMD AU 0.173722 0.0794 Uncertain 8_144641753_A->C 8 144641753 144641753 A C snp 2242.77 0/1 99 210 117 93 0.44 intronic rs4874151 GSDMD AU NM_001166237 exon5 c.217+31A>C 0.771366 0.9206 0.758084 0.7871 0.9098 Uncertain 8_144642151_-->AGGGCAGGGC 8 144642151 144642151 - AGGGCAGGGC indel 2496.73 0/1 99 91 29 62 0.68 intronic rs146152826 GSDMD AU NM_001166237 exon6 c.634+12insAGGGCAGGGC 0.1558 0.2020 Uncertain 8_144642178_T->C 8 144642178 144642178 T C snp 1534.77 1/1 99 52 0 52 1.0 intronic rs11774948 GSDMD AU NM_001166237 exon6 c.634+39T>C 0.945288 1 0.940034 0.9846 1 Uncertain 8_144642244_A->G 8 144642244 144642244 A G snp 92.77 0/1 99 12 8 4 0.33 intronic rs73375262 GSDMD AU NM_001166237 exon6 c.634+105A>G 0.169728 0.0794 0.2257 0.0812 Uncertain 8_144642490_G->A 8 144642490 144642490 G A snp 1239.77 0/1 99 104 49 55 0.53 intronic rs73375263 GSDMD AU NM_001166237 exon7 c.1267-282G>A 0.173522 0.0794 0.2665 0.0893 Uncertain 8_144642596_T->C 8 144642596 144642596 T C snp 1073.77 0/1 99 84 41 43 0.51 intronic rs7835865 GSDMD AU NM_001166237 exon7 c.1267-176T>C 0.64357 0.8849 0.6078 0.9205 Uncertain 8_144642626_A->G 8 144642626 144642626 A G snp 2402.77 1/1 99 84 0 84 1.0 intronic rs7831485 GSDMD AU NM_001166237 exon7 c.1267-146A>G 0.977835 1 0.9868 1 Uncertain 8_144642854_G->A 8 144642854 144642854 G A snp 1446.77 0/1 99 122 59 63 0.52 exonic rs11551202 GSDMD AU synonymous SNV NM_024736 exon4 c.G492A p.L164L 0.166334 0.0794 0.168342 0.3073 0.1988 Uncertain 8_144642986_T->C 8 144642986 144642986 T C snp 1326.77 1/1 96 45 0 45 1.0 intronic rs11136298 GSDMD AU NM_001166237 exon7 c.1436+45T>C 0.958866 1 0.959096 0.9836 1 Uncertain 8_144643169_C->T 8 144643169 144643169 C T snp 2285.77 0/1 99 184 81 103 0.56 splicing rs1545536 GSDMD AU NM_001166237 exon8 c.1666-2C>T 0.275958 0.4583 0.200200 0.2584 0.4581 Pathogenic 8_144643321_A->G 8 144643321 144643321 A G snp 2966.77 1/1 99 106 0 106 1.0 intronic rs12541790 GSDMD AU NM_001166237 exon8 c.1769+47A>G 0.814696 0.9643 0.764756 0.8172 0.9871 Uncertain 8_144643603_G->A 8 144643603 144643603 G A snp 2733.77 1/1 99 104 1 103 0.99 intronic rs2290414 GSDMD AU NM_001166237 exon9 c.2088+10G>A 0.498802 0.5377 0.448252 0.5003 0.5464 Uncertain 8_144643815_G->C 8 144643815 144643815 G C snp 133.03 1/1 12 4 0 4 1.0 intronic rs13255282 GSDMD AU NM_001166237 exon10 c.2406-96G>C 0.19988 0.0794 Uncertain 8_144644583_G->C 8 144644583 144644583 G C snp 1180.77 1/1 87 41 0 41 1.0 intronic rs1349806 GSDMD AU NM_001166237 exon13 c.3112-34G>C 0.814896 0.9643 0.764428 0.8366 0.9885 Uncertain 8_144644787_T->A 8 144644787 144644787 T A snp 5500.77 1/1 99 203 0 203 1.0 intronic rs1377663 GSDMD AU NM_001166237 exon14 c.3326-44T>A 0.813299 0.9643 0.761358 0.8195 0.9875 Uncertain 8_144649550_A->G 8 144649550 144649550 A G snp 488.77 1/1 36 21 0 21 1.0 exonic rs7010602 MROH6 AU synonymous SNV NM_001100878 exon14 c.T2019C p.R673R 0.945288 1 0.9583 . Uncertain 8_144649601_A->G 8 144649601 144649601 A G snp 710.77 1/1 51 28 0 28 1.0 exonic rs13268196 MROH6 AU synonymous SNV NM_001100878 exon14 c.T1968C p.A656A 0.944888 1 0.9562 1 Uncertain 8_144649625_T->C 8 144649625 144649625 T C snp 754.77 1/1 54 28 0 28 1.0 exonic rs10097556 MROH6 AU synonymous SNV NM_001100878 exon14 c.A1944G p.R648R 0.945687 1 0.9594 1 Uncertain 8_144649650_C->A 8 144649650 144649650 C A snp 382.77 0/1 99 28 13 15 0.54 intronic rs13254352 MROH6 AU NM_001100878 exon1 c.227+15C>A 0.301717 0.4514 0.3479 0.5563 Uncertain 8_144649690_C->T 8 144649690 144649690 C T snp 697.77 1/1 54 27 1 26 0.96 intronic rs13254590 MROH6 AU NM_001100878 exon1 c.227+55C>T 0.789337 0.9643 Uncertain 8_144649968_C->T 8 144649968 144649968 C T snp 1813.77 1/1 99 61 0 61 1.0 exonic rs13255489 MROH6 AU nonsynonymous SNV NM_001100878 exon12 c.G1855A p.A619T 0.797923 0.9643 0.761964 0.8123 0.9873 0.15 T 0.000 P -1.053 T 0.025 T 0.011 T Pathogenic 8_144650503_G->A 8 144650503 144650503 G A snp 1282.77 1/1 93 43 0 43 1.0 intronic rs13271361 MROH6 AU NM_001100878 exon4 c.1023+72G>A 0.508387 0.5347 Uncertain 8_144650550_T->C 8 144650550 144650550 T C snp 963.77 1/1 72 30 0 30 1.0 intronic rs10101426 MROH6 AU NM_001100878 exon4 c.1023+119T>C 0.964257 1 Uncertain 8_144650925_A->T 8 144650925 144650925 A T snp 70.77 0/1 99 16 11 5 0.31 intronic rs13279011 MROH6 AU NM_001100878 exon5 c.1481+36A>T 0.768171 0.9187 0.815951 0.7964 0.8974 Uncertain 8_144651576_C->G 8 144651576 144651576 C G snp 93.28 1/1 9 3 0 3 1.0 intronic rs7013931 MROH6 AU NM_001100878 exon6 c.2202-34C>G 0.945887 1 0.9934 1 Uncertain 8_144652595_-->GCAGTGGGA 8 144652595 144652595 - GCAGTGGGA indel 8792.73 0/1 99 172 92 80 0.47 intronic rs200070927 MROH6 AU NM_001100878 exon9 c.3142+45insGCAGTGGGA 0.127323 0.1350 0.1108 Uncertain 8_144652599_-->GAGGG 8 144652599 144652599 - GAGGG indel 4632.73 0/1 99 160 95 65 0.41 intronic rs200120075 MROH6 AU NM_001100878 exon10 c.3234-43insGAGGG 0.1409 0.1150 Uncertain 8_144652600_C->G 8 144652600 144652600 C G snp 1625.77 0/1 99 160 93 67 0.42 intronic rs574470711 MROH6 AU NM_001100878 exon10 c.3234-42C>G 0.113019 0.0804 0.1454 0.1183 Uncertain 8_144653011_C->T 8 144653011 144653011 C T snp 154.78 0/1 27 10 3 7 0.7 intronic rs11777527 MROH6 AU NM_001100878 exon11 c.3638-35C>T 0.554912 0.4514 0.6606 0.5 Uncertain 8_144653218_A->G 8 144653218 144653218 A G snp 216.84 1/1 18 7 0 7 1.0 intronic rs4874152 MROH6 AU NM_001100878 exon11 c.3756+54A>G 0.997404 1 Uncertain 8_144654249_G->A 8 144654249 144654249 G A snp 1071.77 0/1 99 67 24 43 0.64 exonic rs10866911 MROH6 AU nonsynonymous SNV NM_001100878 exon2 c.C401T p.T134I 0.320288 0.3562 0.409884 0.4319 0.3552 0.53 T 0.971 P -0.915 T 0.037 T 0.018 T Pathogenic 8_144654255_A->G 8 144654255 144654255 A G snp 2222.77 1/1 99 77 0 77 1.0 exonic rs4874153 MROH6 AU nonsynonymous SNV NM_001100878 exon2 c.T395C p.V132A 0.773762 0.9058 0.787476 0.7955 0.8840 1 T 0.957 P -0.975 T 0.0 T 0.0 T Pathogenic 8_144654582_C->A 8 144654582 144654582 C A snp 2655.77 1/1 99 103 1 102 0.99 intronic rs4874154 MROH6 AU NM_001100878 exon14 c.5182-8C>A 0.753195 0.8661 0.408317 0.8226 0.8904 Uncertain 8_144654586_G->C 8 144654586 144654586 G C snp 2870.77 1/1 99 106 0 106 1.0 splicing rs4874155 MROH6 AU NM_001100878 exon14 c.5182-4G>C 0.99361 1 0.993229 0.9962 0.9993 Pathogenic 8_144654594_G->T 8 144654594 144654594 G T snp 1504.77 0/1 99 109 45 64 0.59 exonic rs4873803 MROH6 AU nonsynonymous SNV NM_001100878 exon1 c.C291A p.H97Q 0.316893 0.3552 0.405607 0.4499 0.3662 0.32 T 0.005 P -0.910 T 0.003 T 0.003 T Pathogenic 8_144654693_G->C 8 144654693 144654693 G C snp 1838.77 0/1 99 133 62 71 0.53 exonic rs4873804 MROH6 AU synonymous SNV NM_001100878 exon1 c.C192G p.P64P 0.31889 0.3562 0.407749 0.4490 0.3691 Uncertain 8_144657269_G->C 8 144657269 144657269 G C snp 2408.77 1/1 99 81 0 81 1.0 splicing rs2290417 NAPRT AU NM_001286829 exon2 c.256+6G>C 0.644569 0.755 0.687993 0.7120 0.7452 Pathogenic 8_144658370_C->T 8 144658370 144658370 C T snp 1152.77 0/1 99 111 59 52 0.47 intronic rs896955 NAPRT AU NM_001286829 exon6 c.1325+38C>T 0.241214 0.3641 0.180419 0.2190 0.4000 Uncertain 8_144658711_G->A 8 144658711 144658711 G A snp 1822.77 0/1 99 155 77 78 0.5 exonic rs872935 NAPRT AU synonymous SNV NM_145201 exon7 c.C913T p.L305L 0.397364 0.3938 0.493308 0.5227 0.3821 Uncertain 8_144659608_A->G 8 144659608 144659608 A G snp 761.77 1/1 57 21 0 21 1.0 intronic rs12678314 NAPRT AU NM_001286829 exon10 c.2562+39A>G 0.686701 0.756 0.736911 0.7251 0.7369 Uncertain 8_144659949_C->A 8 144659949 144659949 C A snp 1907.77 0/1 99 146 60 86 0.59 intronic rs2305496 NAPRT AU NM_001286829 exon12 c.2978-36C>A 0.220447 0.3591 0.139356 0.2875 0.5120 Uncertain 8_144660189_A->G 8 144660189 144660189 A G snp 2053.77 1/1 99 68 0 68 1.0 intronic rs896953 NAPRT AU NM_001286829 exon13 c.3255-73A>G 0.664936 0.755 Uncertain 8_144660257_G->T 8 144660257 144660257 G T snp 836.77 0/1 99 74 40 34 0.46 splicing rs2015562 NAPRT AU NM_001286829 exon13 c.3255-5G>T 0.240016 0.3442 0.132347 0.2471 0.4223 Pathogenic 8_144660509_-->CCGGC 8 144660509 144660509 - CCGGC indel 1032.73 0/1 99 36 11 25 0.69 UTR5 rs201214521 NAPRT AU 0.205484 Uncertain 8_144660513_C->A 8 144660513 144660513 C A snp 173.77 0/1 99 27 11 16 0.59 UTR5 NAPRT AU Uncertain 8_144660523_A->G 8 144660523 144660523 A G snp 684.77 1/1 51 22 0 22 1.0 upstream rs4475500 NAPRT AU 1 1 1 . Uncertain 8_144662353_G->A 8 144662353 144662353 G A snp 593.77 0/1 99 41 18 23 0.56 exonic rs1062391 EEF1D AU synonymous SNV NM_032378 exon9 c.C1734T p.A578A 0.374002 0.3998 0.470778 0.5114 0.3664 1.000 P -0.940 T Likely benign 8_144663075_G->A 8 144663075 144663075 G A snp 96.28 1/1 9 4 1 3 0.75 intronic rs1809148 EEF1D AU NM_032378 exon4 c.1262-148G>A 0.242812 0.3542 Uncertain 8_144671244_C->A 8 144671244 144671244 C A snp 1335.77 0/1 99 124 66 58 0.47 exonic rs4874160 EEF1D AU synonymous SNV NM_032378 exon3 c.G1008T p.R336R 0.642572 0.5149 0.791314 0.7623 0.5032 Uncertain 8_144671685_G->C 8 144671685 144671685 G C snp 4451.77 1/1 99 154 0 154 1.0 exonic rs6985081 EEF1D AU nonsynonymous SNV NM_032378 exon3 c.C567G p.D189E 0.936901 1 0.930920 0.9833 1 0.94 T 1.000 P -0.989 T 0.0 T 0.0 T Pathogenic 8_144671922_G->A 8 144671922 144671922 G A snp 2911.77 0/1 99 203 86 117 0.58 exonic rs3812448 EEF1D AU synonymous SNV NM_032378 exon3 c.C330T p.R110R 0.639377 0.5099 0.735607 0.7602 0.4961 Uncertain 8_144672541_T->C 8 144672541 144672541 T C snp 40.77 0/1 69 5 3 2 0.4 intronic rs751932 EEF1D AU NM_032378 exon9 c.10816-236T>C 0.73742 0.6657 Uncertain 8_144680864_G->T 8 144680864 144680864 G T snp 924.77 0/1 99 47 14 33 0.7 exonic TIGD5 AU nonsynonymous SNV NM_032862 exon1 c.G791T p.G264V 0.09 T 1.000 N -1.013 T 0.624 T 0.354 P Pathogenic 8_144681777_G->T 8 144681777 144681777 G T snp 1662.77 0/1 99 119 54 65 0.55 exonic rs10282929 TIGD5 AU nonsynonymous SNV NM_032862 exon1 c.G1704T p.M568I 0.59984 0.5109 0.693813 0.7448 0.5617 0.21 T 0.0 P -1.008 T 0.0 T 0.0 T Pathogenic 8_144687092_T->C 8 144687092 144687092 T C snp 1029.77 0/1 99 107 61 46 0.43 UTR3 rs896962 PYCRL AU 0.244409 0.375 0.167192 0.2889 0.4449 Uncertain 8_144688736_C->G 8 144688736 144688736 C G snp 1757.77 0/1 99 122 51 71 0.58 exonic rs2242090 PYCRL AU nonsynonymous SNV NM_023078 exon4 c.G486C p.K162N 0.327077 0.3879 0.402707 0.4443 0.3741 0.17 T 0.000 P -0.961 T Pathogenic 8_144689146_C->T 8 144689146 144689146 C T snp 1887.77 0/1 99 177 96 81 0.46 exonic rs2242089 PYCRL AU nonsynonymous SNV NM_023078 exon3 c.G349A p.V117M 0.245807 0.371 0.183454 0.2320 0.3637 0.01 T 1.000 P -1.053 T 0.996 D 0.885 D ID=CM067455;DIS=Lung cancer, susceptibility to, association with;TAG=DP;PUB=16741161 DP Pathogenic 8_144689588_G->A 8 144689588 144689588 G A snp 140.77 0/1 99 18 12 6 0.33 intronic rs7818082 PYCRL AU NM_023078 exon4 c.1433+286G>A 0.242013 0.371 Uncertain 8_144689686_A->G 8 144689686 144689686 A G snp 1626.77 1/1 99 64 0 64 1.0 intronic rs4874169 PYCRL AU NM_023078 exon4 c.1433+384A>G 0.801318 0.8502 Uncertain 8_144689914_C->T 8 144689914 144689914 C T snp 360.77 0/1 99 24 12 12 0.5 intronic rs11136305 PYCRL AU NM_023078 exon5 c.2362-317C>T 0.503395 0.4792 Uncertain 8_144689933_ACAT->- 8 144689933 144689936 ACAT - indel 960.73 0/1 99 35 16 19 0.54 intronic rs34360518 PYCRL AU NM_023078 exon5 c.2362-298_2362-295delACAT 0.503994 0.4792 Uncertain 8_144690014_T->C 8 144690014 144690014 T C snp 4109.77 1/1 99 147 0 147 1.0 intronic rs4874170 PYCRL AU NM_023078 exon5 c.2362-217T>C 0.81889 0.874 Uncertain 8_144690886_A->C 8 144690886 144690886 A C snp 343.77 0/1 99 33 17 16 0.48 intronic rs10097337 PYCRL AU NM_023078 exon5 c.2427+590A>C 0.520168 0.494 Uncertain 8_144695176_C->T 8 144695176 144695176 C T snp 6399.77 1/1 99 237 0 237 1.0 intronic rs2242087 TSTA3 AU NM_003313 exon1 c.56+41C>T 0.289337 0.5407 0.177598 0.2816 0.5678 Uncertain 8_144695499_C->A 8 144695499 144695499 C A snp 4305.77 1/1 99 167 2 165 0.99 intronic rs2242086 TSTA3 AU NM_003313 exon2 c.386+34C>A 0.289137 0.5407 0.177050 0.2537 0.5398 Uncertain 8_144695867_A->G 8 144695867 144695867 A G snp 2740.77 1/1 99 90 0 90 1.0 intronic rs6558377 TSTA3 AU NM_003313 exon4 c.841-53A>G 0.997604 1 0.996058 Uncertain 8_144696203_T->C 8 144696203 144696203 T C snp 1341.77 1/1 99 39 0 39 1.0 intronic rs4634659 TSTA3 AU NM_003313 exon5 c.1254-130T>C 0.829273 0.8968 Uncertain 8_144732363_T->C 8 144732363 144732363 T C snp 5274.77 1/1 99 194 0 194 1.0 exonic rs4875017 ZNF623 AU synonymous SNV NM_014789 exon1 c.T321C p.N107N 0.995407 1 0.993157 0.9983 1 Uncertain 8_144732418_A->G 8 144732418 144732418 A G snp 5318.77 1/1 99 186 0 186 1.0 exonic rs4874084 ZNF623 AU nonsynonymous SNV NM_014789 exon1 c.A376G p.N126D 0.996605 1 0.994080 0.9986 0.9994 0.26 T 0.0 P -1.024 T 0.0 T 0.0 T Pathogenic 8_144776109_A->G 8 144776109 144776109 A G snp 3498.77 1/1 99 113 0 113 1.0 exonic ZNF707 AU synonymous SNV NM_001288808 exon4 c.A417G p.S139S 0.992612 1 0.993550 0.9981 1 Uncertain 8_144800552_C->T 8 144800552 144800552 C T snp 2324.77 1/1 99 68 0 68 1.0 intronic MAPK15 AU NM_139021 exon4 c.1925+80C>T 0.993211 1 Uncertain 8_144801348_C->- 8 144801348 144801348 C - indel 1217.73 1/1 87 42 1 41 0.98 intronic rs5895782 MAPK15 AU NM_139021 exon6 c.2779+22delC 0.783546 0.8938 0.846173 0.9123 0.9307 Uncertain 8_144802467_G->A 8 144802467 144802467 G A snp 1710.77 0/1 99 164 87 77 0.47 intronic rs199911743 MAPK15 AU NM_139021 exon8 c.3910+10G>A 0.000998403 0.005 0.0005 0.0057 Uncertain 8_144802735_A->C 8 144802735 144802735 A C snp 3818.77 1/1 99 130 1 129 0.99 intronic rs6420190 MAPK15 AU NM_139021 exon9 c.4325-137A>C 0.292532 0.5208 0.108582 0.3007 0.5543 Uncertain 8_144802736_G->C 8 144802736 144802736 G C snp 4121.77 1/1 99 135 0 135 1.0 intronic MAPK15 AU NM_139021 exon9 c.4325-136G>C 0.292332 0.5188 0.108259 0.3023 0.5543 0.18 T 0.0 P -0.951 T Uncertain 8_144802751_C->T 8 144802751 144802751 C T snp 1902.77 0/1 99 175 92 83 0.47 intronic MAPK15 AU NM_139021 exon9 c.4325-121C>T 0.05 T 1 N -0.869 T Uncertain 8_144808003_G->C 8 144808003 144808003 G C snp 1763.77 1/1 99 59 0 59 1.0 UTR3 FAM83H AD 0.995208 1 Uncertain 8_144809804_G->A 8 144809804 144809804 G A snp 1423.77 1/1 99 48 0 48 1.0 exonic FAM83H AD synonymous SNV NM_198488 exon5 c.C1827T p.Y609Y 0.823283 0.999 0.865825 0.9499 1 Uncertain 8_144811278_G->A 8 144811278 144811278 G A snp 5829.77 1/1 99 208 0 208 1.0 intronic FAM83H AD NM_198488 exon2 c.3171+17G>A 0.273962 0.5139 0.177040 0.2510 0.5365 Uncertain 8_144811338_C->G 8 144811338 144811338 C G snp 4742.77 1/1 99 161 0 161 1.0 exonic FAM83H AD nonsynonymous SNV NM_198488 exon3 c.G603C p.Q201H 0.998602 1 0.999202 0.9992 1 0.86 T 0.000 P -0.900 T 0.0 T 0.0 T Pathogenic 8_144822037_G->T 8 144822037 144822037 G T snp 2936.77 1/1 99 110 0 110 1.0 ncRNA_exonic FAM83H-AS1 AU 0.264377 0.5198 0.2555 0.5109 Uncertain 8_144824898_A->C 8 144824898 144824898 A C snp 4633.77 1/1 99 154 0 154 1.0 ncRNA_intronic FAM83H-AS1 AU 0.995208 1 0.9994 1 Uncertain 8_144825272_A->G 8 144825272 144825272 A G snp 1195.77 1/1 90 31 0 31 1.0 ncRNA_intronic FAM83H-AS1 AU 0.435703 0.5169 0.2992 0.5077 Uncertain 8_144825290_T->C 8 144825290 144825290 T C snp 700.77 1/1 54 19 0 19 1.0 ncRNA_intronic FAM83H-AS1 AU 0.275958 0.5179 0.3005 0.5 Uncertain 8_144873666_G->C 8 144873666 144873666 G C snp 1639.77 1/1 99 56 0 56 1.0 intronic SCRIB AU NM_015356 exon2 c.278+56G>C 0.951278 0.9712 0.926754 Uncertain 8_144873779_G->A 8 144873779 144873779 G A snp 865.77 1/1 63 33 0 33 1.0 intronic SCRIB AU NM_182706 exon3 c.503-56G>A 0.998403 1 Uncertain 8_144874366_T->C 8 144874366 144874366 T C snp 2451.77 1/1 99 86 0 86 1.0 intronic SCRIB AU NM_015356 exon5 c.1057-23T>C 0.989816 1 0.990136 0.9969 0.9999 Uncertain 8_144874554_T->C 8 144874554 144874554 T C snp 953.77 1/1 69 32 0 32 1.0 exonic SCRIB AU synonymous SNV NM_182706 exon32 c.A4350G p.P1450P 0.990016 1 0.993679 0.9974 1 0.0 P -1.026 T Likely benign 8_144885580_A->G 8 144885580 144885580 A G snp 1925.77 1/1 99 76 0 76 1.0 exonic SCRIB AU synonymous SNV NM_182706 exon24 c.T3576C p.F1192F 0.933906 0.9752 0.908122 0.9270 0.9743 1.000 P Uncertain 8_144886628_C->T 8 144886628 144886628 C T snp 574.77 1/1 45 16 0 16 1.0 intronic SCRIB AU NM_015356 exon16 c.13405-109C>T 0.342652 0.619 Uncertain 8_144887656_A->G 8 144887656 144887656 A G snp 1663.77 1/1 99 57 0 57 1.0 intronic SCRIB AU NM_015356 exon18 c.14273+51A>G 0.710863 0.627 0.863434 0.8041 0.6818 Uncertain 8_144887712_G->A 8 144887712 144887712 G A snp 475.77 1/1 36 14 0 14 1.0 intronic SCRIB AU NM_015356 exon18 c.14273+107G>A 0.673922 0.624 Uncertain 8_144887734_G->A 8 144887734 144887734 G A snp 99.28 1/1 9 3 0 3 1.0 intronic SCRIB AU NM_015356 exon18 c.14273+129G>A 0.346446 0.6161 Uncertain 8_144889172_A->G 8 144889172 144889172 A G snp 4131.77 1/1 99 160 0 160 1.0 exonic SCRIB AU synonymous SNV NM_182706 exon17 c.T2190C p.T730T 0.883586 0.9752 0.858154 0.9096 0.9742 Uncertain 8_144890873_A->T 8 144890873 144890873 A T snp 1816.77 1/1 99 70 0 70 1.0 exonic SCRIB AU nonsynonymous SNV NM_182706 exon15 c.T2021A p.V674E 1 1 0.9997 0.9998 1 T 0.000 P -0.964 T 0.0 T 0.0 T Pathogenic 8_144890963_C->A 8 144890963 144890963 C A snp 1128.77 0/1 99 112 60 52 0.46 exonic SCRIB AU nonsynonymous SNV NM_182706 exon15 c.G1931T p.G644V 0.000798722 0.004 0.0002 0.0019 0.55 T 1.000 D -1.087 T 0.328 T 0.155 T Pathogenic 8_144894496_G->A 8 144894496 144894496 G A snp 5306.77 1/1 99 207 0 207 1.0 exonic SCRIB AU synonymous SNV NM_182706 exon9 c.C846T p.T282T 0.904553 0.9752 0.876365 0.9135 0.9746 Uncertain 8_144894641_C->T 8 144894641 144894641 C T snp 1980.77 1/1 99 67 0 67 1.0 intronic SCRIB AU NM_015356 exon28 c.21222+87C>T 0.979233 1 Uncertain 8_144894702_-->T 8 144894702 144894702 - T indel 552.73 1/1 39 14 0 14 1.0 intronic SCRIB AU NM_015356 exon28 c.21222+148insT Uncertain 8_144895553_G->A 8 144895553 144895553 G A snp 6010.77 1/1 99 226 0 226 1.0 intronic SCRIB AU NM_015356 exon31 c.22212+9G>A 0.345847 0.6161 0.272567 0.3223 0.6273 Uncertain 8_144900756_A->G 8 144900756 144900756 A G snp 964.77 1/1 72 29 0 29 1.0 intronic PUF60 AD NM_078480 exon7 c.2015+52A>G 0.924321 0.9762 0.907465 Uncertain 8_144902682_T->C 8 144902682 144902682 T C snp 258.8 1/1 21 7 0 7 1.0 intronic PUF60 AD NM_078480 exon8 c.4146-153T>C 0.901158 0.9762 Uncertain 8_144903923_-->GCCCCT 8 144903923 144903923 - GCCCCT indel 738.73 0/1 99 35 18 17 0.49 intronic PUF60 AD NM_078480 exon10 c.5298-64insGCCCCT Uncertain 8_144904690_A->G 8 144904690 144904690 A G snp 4135.77 1/1 99 152 0 152 1.0 intronic PUF60 AD NM_078480 exon10 c.5394+607A>G 0.930511 0.9762 0.9373 0.9703 Uncertain 8_144911360_A->G 8 144911360 144911360 A G snp 712.77 1/1 51 26 0 26 1.0 intronic PUF60 AD NM_001271100 exon11 c.12590+81A>G 0.936502 1 Uncertain 8_144940081_C->A 8 144940081 144940081 C A snp 101.28 1/1 9 4 0 4 1.0 UTR3 rs6558397 EPPK1 AU Uncertain 8_144940222_A->C 8 144940222 144940222 A C snp 263.77 0/1 99 99 86 13 0.13 exonic EPPK1 AU synonymous SNV NM_031308 exon2 c.T7200G p.L2400L 0.5040 0.2012 Uncertain 8_144940230_G->C 8 144940230 144940230 G C snp 4539.77 0/1 99 248 72 176 0.71 exonic EPPK1 AU nonsynonymous SNV NM_031308 exon2 c.C7192G p.L2398V 0.5168 0.4688 0.34 T 1.000 N -0.993 T 0.0 T 0.001 T Pathogenic 8_144940290_C->G 8 144940290 144940290 C G snp 288.77 0/1 99 173 152 21 0.12 exonic EPPK1 AU nonsynonymous SNV NM_031308 exon2 c.G7132C p.D2378H 0.005640 0.0865 0.2249 0.03 T 0.992 D 0.169 D 1.0 D 0.999 D Pathogenic 8_144940300_G->A 8 144940300 144940300 G A snp 3659.77 0/1 99 156 38 118 0.76 exonic EPPK1 AU synonymous SNV NM_031308 exon2 c.C7122T p.R2374R 0.5044 0.5041 Uncertain 8_144940331_C->T 8 144940331 144940331 C T snp 534.77 0/1 99 138 113 25 0.18 exonic rs200585601 EPPK1 AU nonsynonymous SNV NM_031308 exon2 c.G7091A p.R2364Q 0.020174 0.0807 0.2143 1 T 1.000 N -1.048 T 0.046 T 0.008 T Pathogenic 8_144940706_C->T 8 144940706 144940706 C T snp 564.77 0/1 99 250 213 37 0.15 exonic EPPK1 AU nonsynonymous SNV NM_031308 exon2 c.G6716A p.R2239H 0.0384 0.0936 0.12 T 0.987 N -0.897 T 0.822 T 0.112 P Pathogenic 8_144990335_G->A 8 144990335 144990335 G A snp 473.77 0/1 99 28 8 20 0.71 UTR3 PLEC AR,AD 0.238219 0.1518 0.4307 0.1686 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000078827.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 8_144990528_A->G 8 144990528 144990528 A G snp 1238.77 0/1 99 113 60 53 0.47 exonic PLEC AR,AD synonymous SNV NM_201378 exon32 c.T13419C p.A4473A 0.477037 0.1508 0.540657 0.4191 0.1614 Uncertain 8_144991176_T->C 8 144991176 144991176 T C snp 1211.77 0/1 99 154 96 58 0.38 exonic PLEC AR,AD synonymous SNV NM_201378 exon32 c.A12771G p.S4257S 0.478435 0.1528 0.565540 0.4190 0.1547 Uncertain 8_144992103_T->C 8 144992103 144992103 T C snp 3355.77 0/1 99 246 119 127 0.52 exonic PLEC AR,AD synonymous SNV NM_201378 exon32 c.A11844G p.T3948T 0.490415 0.1538 0.588203 0.4343 0.1555 Uncertain 8_144992361_T->C 8 144992361 144992361 T C snp 1157.77 0/1 99 93 47 46 0.49 exonic PLEC AR,AD synonymous SNV NM_201378 exon32 c.A11586G p.P3862P 0.478235 0.1696 0.568384 0.4275 0.1971 Uncertain 8_144992862_A->G 8 144992862 144992862 A G snp 2075.77 0/1 99 157 79 78 0.5 exonic PLEC AR,AD synonymous SNV NM_201378 exon32 c.T11085C p.A3695A 0.446086 0.1448 0.534531 0.4055 0.1496 Uncertain 8_144993324_C->T 8 144993324 144993324 C T snp 2805.77 0/1 99 247 120 127 0.51 exonic PLEC AR,AD synonymous SNV NM_201378 exon32 c.G10623A p.T3541T 0.234026 0.1349 0.302087 0.3451 0.1413 Uncertain 8_144993377_A->G 8 144993377 144993377 A G snp 2774.77 0/1 99 243 122 121 0.5 exonic PLEC AR,AD synonymous SNV NM_201378 exon32 c.T10570C p.L3524L 0.471845 0.1438 0.562130 0.4148 0.1449 Uncertain 8_144995494_C->T 8 144995494 144995494 C T snp 339.77 0/1 99 27 16 11 0.41 exonic PLEC AR,AD nonsynonymous SNV NM_201378 exon32 c.G8453A p.R2818H 0.230631 0.1419 0.307968 0.3444 0.1480 0.06 T 0.764 P -1.069 T 0.116 T 0.01 T Pathogenic 8_144995736_G->A 8 144995736 144995736 G A snp 2827.77 0/1 99 249 130 119 0.48 exonic PLEC AR,AD synonymous SNV NM_201378 exon32 c.C8211T p.N2737N 0.230232 0.1419 0.302108 0.3446 0.1475 Uncertain 8_144996029_A->G 8 144996029 144996029 A G snp 1061.77 0/1 99 79 39 40 0.51 exonic PLEC AR,AD nonsynonymous SNV NM_201378 exon32 c.T7918C p.S2640P 0.466653 0.1429 0.563160 0.4085 0.1473 1 T 0.001 P -0.943 T 0.0 T 0.0 T Pathogenic 8_144996408_T->G 8 144996408 144996408 T G snp 459.77 0/1 99 64 43 21 0.33 exonic PLEC AR,AD synonymous SNV NM_201378 exon32 c.A7539C p.A2513A 0.23103 0.1429 0.295044 0.4297 0.2366 1.000 P -0.911 T Likely benign 8_144996598_G->A 8 144996598 144996598 G A snp 1825.77 0/1 99 201 118 83 0.41 intronic PLEC AR,AD NM_201384 exon1 c.6219+35G>A 0.230631 0.1419 0.297948 0.3448 0.1460 Uncertain 8_144996635_G->A 8 144996635 144996635 G A snp 1828.77 0/1 99 196 115 81 0.41 intronic PLEC AR,AD NM_201384 exon2 c.6327-36G>A 0.230631 0.1419 0.294267 0.3432 0.1453 Uncertain 8_144997656_C->T 8 144997656 144997656 C T snp 1239.77 0/1 99 82 25 57 0.7 exonic PLEC AR,AD synonymous SNV NM_201378 exon31 c.G6399A p.A2133A 0.230232 0.1429 0.288675 0.3535 0.1519 Uncertain 8_144997927_G->A 8 144997927 144997927 G A snp 862.77 0/1 99 87 49 38 0.44 exonic PLEC AR,AD nonsynonymous SNV NM_201378 exon31 c.C6128T p.A2043V 0.230631 0.1429 0.261714 0.4651 0.3049 0.49 T 0.0 P -0.992 T 0.001 T 0.001 T Pathogenic 8_144998169_C->T 8 144998169 144998169 C T snp 977.77 0/1 99 79 36 43 0.54 exonic PLEC AR,AD synonymous SNV NM_201378 exon31 c.G5886A p.A1962A 0.230831 0.1429 0.269919 0.3632 0.1651 Uncertain 8_144998190_A->G 8 144998190 144998190 A G snp 1273.77 0/1 99 96 41 55 0.57 exonic PLEC AR,AD synonymous SNV NM_201378 exon31 c.T5865C p.A1955A 0.230831 0.1429 0.276121 0.3616 0.1620 Uncertain 8_144999417_C->T 8 144999417 144999417 C T snp 819.77 0/1 99 76 42 34 0.45 exonic PLEC AR,AD synonymous SNV NM_201378 exon31 c.G4638A p.A1546A 0.230831 0.1429 0.268147 0.3759 0.1820 Uncertain 8_144999642_A->C 8 144999642 144999642 A C snp 317.77 0/1 99 40 27 13 0.33 exonic PLEC AR,AD synonymous SNV NM_201378 exon31 c.T4413G p.A1471A 0.232628 0.1429 0.279871 0.3357 0.1475 Uncertain 8_144999684_A->G 8 144999684 144999684 A G snp 525.77 0/1 99 50 31 19 0.38 exonic PLEC AR,AD synonymous SNV NM_201378 exon31 c.T4371C p.A1457A 0.232628 0.1429 0.240509 0.3356 0.1440 Uncertain 8_145000056_T->C 8 145000056 145000056 T C snp 575.77 0/1 99 59 30 29 0.49 splicing PLEC AR,AD NM_201384 exon2 c.9708+4T>C 0.23103 0.1429 0.220961 0.3912 0.2147 ID=CS132633;DIS=Epidermolysis bullosa simplex;TAG=DM?;PUB=23289980 DM? Pathogenic 8_145000809_G->A 8 145000809 145000809 G A snp 50.74 1/1 6 2 0 2 1.0 intronic PLEC AR,AD NM_201384 exon3 c.10607-142G>A 0.230831 0.1429 Uncertain 8_145000898_A->G 8 145000898 145000898 A G snp 933.77 0/1 99 58 22 36 0.62 intronic PLEC AR,AD NM_201384 exon3 c.10607-53A>G 0.230831 0.1429 Uncertain 8_145001031_T->C 8 145001031 145001031 T C snp 1769.77 0/1 99 161 87 74 0.46 exonic rs55895668 PLEC AR,AD nonsynonymous SNV NM_201378 exon30 c.A3923G p.H1308R 0.466653 0.1429 0.561586 0.4128 0.1488 1 T 0.000 P -1.000 T 0.0 T 0.0 T CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000117968.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 8_145001300_T->A 8 145001300 145001300 T A snp 1344.77 0/1 99 74 25 49 0.66 intronic PLEC AR,AD NM_201384 exon4 c.10905+51T>A 0.230831 0.1429 0.305430 0.3437 0.1496 Uncertain 8_145001311_T->C 8 145001311 145001311 T C snp 1493.77 0/1 99 80 28 52 0.65 intronic PLEC AR,AD NM_201384 exon4 c.10905+62T>C 0.230831 0.1429 Uncertain 8_145001372_T->C 8 145001372 145001372 T C snp 1806.77 0/1 99 138 66 72 0.52 intronic PLEC AR,AD NM_201384 exon5 c.11075-47T>C 0.23103 0.1429 0.307692 0.3438 0.1488 Uncertain 8_145001509_T->C 8 145001509 145001509 T C snp 1799.77 0/1 99 182 105 77 0.42 splicing PLEC AR,AD NM_201384 exon5 c.11159+6T>C 0.230831 0.1429 0.302185 0.3437 0.1484 Pathogenic 8_145001588_C->T 8 145001588 145001588 C T snp 1696.77 0/1 99 121 56 65 0.54 exonic PLEC AR,AD nonsynonymous SNV NM_201378 exon27 c.G3704A p.R1235Q 0.230831 0.1429 0.307524 0.3489 0.1525 0.45 T 0.014 P -0.932 T 0.0 T 0.0 T Pathogenic 8_145001784_A->G 8 145001784 145001784 A G snp 1374.77 0/1 99 107 48 59 0.55 exonic PLEC AR,AD synonymous SNV NM_201378 exon27 c.T3508C p.L1170L 0.230831 0.1429 0.264980 0.3687 0.1711 Uncertain 8_145002283_A->G 8 145002283 145002283 A G snp 615.77 0/1 99 37 14 23 0.62 intronic PLEC AR,AD NM_201384 exon7 c.11816+123A>G 0.466653 0.1429 Uncertain 8_145003777_G->A 8 145003777 145003777 G A snp 2495.77 0/1 99 207 94 113 0.55 intronic PLEC AR,AD NM_201384 exon10 c.13469-36G>A 0.22524 0.1369 0.294197 0.3354 0.1387 Uncertain 8_145004546_G->A 8 145004546 145004546 G A snp 2142.77 1/1 99 71 0 71 1.0 splicing rs11780911 PLEC AR,AD NM_201384 exon13 c.14207-5G>A 0.571885 0.6032 0.698771 0.7411 0.6658 Pathogenic 8_145005688_-->C 8 145005688 145005688 - C indel 476.73 0/1 99 29 12 17 0.59 intronic rs369663644 PLEC AR,AD NM_201384 exon14 c.15357-13insC 0.271166 0.1409 0.336358 0.4113 0.2306 CLINSIG=unknown;CLNDBN=not_provided;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000078853.3;CLNDSDB=MedGen;CLNDSDBID=CN221809 Uncertain 8_145006790_T->C 8 145006790 145006790 T C snp 1772.77 0/1 99 128 57 71 0.55 intronic PLEC AR,AD NM_201384 exon18 c.16458-12T>C 0.327476 0.1349 0.381475 0.3598 0.1471 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000078850.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 8_145007187_G->A 8 145007187 145007187 G A snp 903.77 0/1 99 67 28 39 0.58 exonic rs11136336 PLEC AR,AD nonsynonymous SNV NM_201378 exon14 c.C1469T p.A490V 0.23143 0.1399 0.289559 0.3669 0.1880 0.12 T 0.000 P -1.073 T 0.0 T 0.0 T CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000117955.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 8_145007534_C->T 8 145007534 145007534 C T snp 953.77 0/1 99 86 43 43 0.5 intronic PLEC AR,AD NM_201384 exon20 c.17175+15C>T 0.398363 0.1478 0.467116 0.3804 0.1535 Uncertain 8_145008342_C->A 8 145008342 145008342 C A snp 1723.77 0/1 99 143 69 74 0.52 intronic PLEC AR,AD NM_201384 exon21 c.17915+83C>A 0.222843 0.1419 Uncertain 8_145008443_A->T 8 145008443 145008443 A T snp 689.77 0/1 99 67 37 30 0.45 intronic PLEC AR,AD NM_201384 exon22 c.18141-42A>T 0.232029 0.1438 0.295670 0.3301 0.1564 Uncertain 8_145008560_A->G 8 145008560 145008560 A G snp 718.77 0/1 99 93 63 30 0.32 exonic rs11783799 PLEC AR,AD synonymous SNV NM_201378 exon11 c.T1053C p.D351D 0.23143 0.1409 0.292472 0.3302 0.1543 Uncertain 8_145008706_C->T 8 145008706 145008706 C T snp 1043.77 0/1 99 90 54 36 0.4 intronic PLEC AR,AD NM_201384 exon22 c.18269+93C>T 0.23123 0.1409 Uncertain 8_145008931_G->C 8 145008931 145008931 G C snp 3163.77 0/1 99 250 124 126 0.5 intronic PLEC AR,AD NM_201384 exon23 c.18554+33G>C 0.393371 0.1389 0.461962 0.3805 0.1458 Uncertain 8_145009593_A->C 8 145009593 145009593 A C snp 37.77 0/1 66 6 3 3 0.5 intronic PLEC AR,AD NM_201384 exon26 c.19137+112A>C 0.396965 0.1498 Uncertain 8_145009610_A->G 8 145009610 145009610 A G snp 41.77 0/1 70 5 3 2 0.4 intronic PLEC AR,AD NM_201384 exon26 c.19137+129A>G 0.23143 0.1448 Uncertain 8_145010305_A->G 8 145010305 145010305 A G snp 338.77 0/1 99 22 10 12 0.55 intronic PLEC AR,AD NM_201384 exon27 c.19838+123A>G 0.305312 0.1458 Uncertain 8_145011204_A->G 8 145011204 145011204 A G snp 2598.77 0/1 99 249 138 111 0.45 exonic rs6993938 PLEC AR,AD synonymous SNV NM_201378 exon5 c.T336C p.A112A 0.232428 0.1458 0.292339 0.3303 0.1549 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000117970.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 8_145012206_G->A 8 145012206 145012206 G A snp 92.77 0/1 99 11 6 5 0.45 intronic PLEC AR,AD NM_201384 exon30 c.21974-112G>A 0.304712 0.1498 Uncertain 8_145012466_A->G 8 145012466 145012466 A G snp 1197.77 0/1 99 112 58 54 0.48 intronic PLEC AR,AD NM_201384 exon30 c.22064+58A>G 0.232628 0.1429 Uncertain 8_145012777_C->G 8 145012777 145012777 C G snp 2222.77 0/1 99 189 104 85 0.45 intronic PLEC AR,AD NM_201384 exon31 c.22454-21C>G 0.230431 0.1349 0.294339 0.3289 0.1530 Uncertain 8_145013345_C->T 8 145013345 145013345 C T snp 82.77 0/1 28 5 1 4 0.8 intronic PLEC AR,AD NM_201384 exon32 c.23173-172C>T 0.23762 0.1429 Uncertain 8_145018740_-->CAGCCC 8 145018740 145018740 - CAGCCC indel 2141.73 0/1 99 58 28 30 0.52 intronic PLEC AR,AD NM_201381 exon32 c.28471-75insCAGCCC 0.0365415 0.1736 Uncertain 8_145020477_T->C 8 145020477 145020477 T C snp 800.77 0/1 99 70 32 38 0.54 intronic PLEC AR,AD NM_201381 exon32 c.28561+1572T>C 0.251797 0.1478 0.3765 0.1970 Uncertain 8_145020636_G->A 8 145020636 145020636 G A snp 372.77 0/1 99 34 15 19 0.56 intronic PLEC AR,AD NM_201381 exon32 c.28561+1731G>A 0.232428 0.1409 Uncertain 8_145066886_A->G 8 145066886 145066886 A G snp 7955.77 1/1 99 249 0 249 1.0 exonic GRINA AU synonymous SNV NM_000837 exon7 c.A993G p.L331L 0.979034 0.8998 0.999846 0.9915 0.8916 1.000 P -1.011 T Likely benign 8_145106939_CC->- 8 145106939 145106940 CC - indel 4625.73 1/1 99 98 0 98 1.0 splicing OPLAH AR NM_017570 exon4 c.714-1_714+0delCC 1 1 0.997909 1.0000 1 Pathogenic 8_145107795_G->A 8 145107795 145107795 G A snp 5844.77 1/1 99 198 0 198 1.0 exonic OPLAH AR synonymous SNV NM_017570 exon22 c.C3027T p.A1009A 0.983626 0.9236 0.998366 0.9955 0.9287 Uncertain 8_145110901_G->A 8 145110901 145110901 G A snp 865.77 1/1 66 26 0 26 1.0 intronic OPLAH AR NM_017570 exon13 c.4616+59G>A 0.255192 0.3105 Uncertain 8_145149823_G->T 8 145149823 145149823 G T snp 41.74 1/1 6 2 0 2 1.0 upstream rs13256214 CYC1 AR 0.883786 0.999 Uncertain 8_145149860_A->G 8 145149860 145149860 A G snp 267.8 1/1 21 8 0 8 1.0 upstream rs6984764 CYC1 AR 0.888578 0.999 Uncertain 8_145150101_T->G 8 145150101 145150101 T G snp 1060.77 1/1 75 41 0 41 1.0 exonic rs11541475 CYC1 AR synonymous SNV NM_001916 exon1 c.T99G p.R33R 0.889577 0.999 0.8793 1 Uncertain 8_145150832_A->G 8 145150832 145150832 A G snp 3898.77 1/1 99 139 0 139 1.0 exonic rs7820984 CYC1 AR nonsynonymous SNV NM_001916 exon2 c.A226G p.M76V 0.962859 1 0.955161 0.9876 1 0.4 T 0.0 P -1.018 T 0.0 T 0.0 T Pathogenic 8_145151666_GGCAGTGGGCATGTGGAATACTTCTCC->- 8 145151666 145151692 GGCAGTGGGCATGTGGAATACTTCTCC - indel 23002.7 1/1 99 156 0 156 1.0 intronic rs67708571 CYC1 AR NM_001916 exon5 c.1645+19_1645+45delGGCAGTGGGCATGTGGAATACTTCTCC Uncertain 8_145151693_A->C 8 145151693 145151693 A C snp 2687.77 1/1 99 81 0 81 1.0 intronic rs73717807 CYC1 AR NM_001916 exon5 c.1645+46A>C Uncertain 8_145154282_G->A 8 145154282 145154282 G A snp 2346.77 0/1 99 179 79 100 0.56 exonic rs77359862 SHARPIN AU nonsynonymous SNV NM_030974 exon6 c.C820T p.R274W 0.00898562 0.0397 0.000156 0.0028 0.0342 0 D 1 N -1.042 T 0.975 D 0.23 D ID=COSM1331114;OCCURENCE=1(ovary) Pathogenic 8_145158446_C->T 8 145158446 145158446 C T snp 636.77 1/1 48 24 0 24 1.0 intronic rs12549149 SHARPIN AU NM_030974 exon9 c.4675-9C>T 0.884585 0.999 0.917893 0.9463 0.9932 Uncertain 8_145158503_G->T 8 145158503 145158503 G T snp 938.77 1/1 66 38 0 38 1.0 exonic rs11136254 SHARPIN AU synonymous SNV NM_030974 exon1 c.C154A p.R52R 0.884784 0.999 0.914896 0.9472 0.9952 Uncertain 8_145160646_T->C 8 145160646 145160646 T C snp 4701.77 1/1 99 162 0 162 1.0 exonic rs11136256 MAF1 AU synonymous SNV NM_032272 exon2 c.T60C p.T20T 0.953275 1 0.948562 0.9849 0.9999 Uncertain 8_145161823_G->A 8 145161823 145161823 G A snp 2075.77 1/1 99 78 0 78 1.0 exonic rs11546144 MAF1 AU nonsynonymous SNV NM_032272 exon7 c.G706A p.G236R 0.884385 0.999 0.851224 0.9205 0.9947 0.7 T 0.000 P -0.984 T 0.0 T 0.0 T Pathogenic 8_145161896_T->C 8 145161896 145161896 T C snp 2332.77 1/1 99 85 0 85 1.0 intronic rs13263342 MAF1 AU NM_032272 exon7 c.1280+30T>C 0.891973 0.999 0.863099 0.9184 0.9976 0.0 P -1.024 T Uncertain 8_145162598_G->C 8 145162598 145162598 G C snp 2030.77 1/1 99 67 0 67 1.0 upstream;downstream rs10091401 KIAA1875;MAF1 UN 0.892173 0.999 Uncertain 8_145163414_C->G 8 145163414 145163414 C G snp 3391.77 1/1 99 127 0 127 1.0 ncRNA_exonic rs4977196 KIAA1875 AU 0.892971 0.999 0.9457 0.9928 0.38 T 0.0 P -0.998 T Uncertain 8_145163647_T->C 8 145163647 145163647 T C snp 1904.77 1/1 99 64 0 64 1.0 ncRNA_exonic rs4977195 KIAA1875 AU 0.892173 0.999 0.9380 0.9898 Uncertain 8_145164617_G->T 8 145164617 145164617 G T snp 2724.77 1/1 99 95 0 95 1.0 ncRNA_exonic rs13281660 KIAA1875 AU 0.884585 0.999 0.9504 0.9924 Uncertain 8_145164847_A->G 8 145164847 145164847 A G snp 5746.77 1/1 99 213 0 213 1.0 ncRNA_exonic rs13250446 KIAA1875 AU 0.891773 0.999 0.9412 0.9934 0.39 T 0.0 P -0.997 T 0.0 T 0.001 T Uncertain 8_145166134_C->G 8 145166134 145166134 C G snp 4599.77 1/1 99 167 2 165 0.99 ncRNA_exonic rs55908964 KIAA1875 AU 0.323482 0.3224 0.4437 0.3471 Uncertain 8_145168298_-->G 8 145168298 145168298 - G indel 1375.73 1/1 99 38 0 38 1.0 ncRNA_intronic rs397815911 KIAA1875 AU 0.953275 1 0.9976 1 Uncertain 8_145168611_A->G 8 145168611 145168611 A G snp 2401.77 1/1 99 78 0 78 1.0 ncRNA_exonic rs7463214 KIAA1875 AU 0.965855 1 0.9935 1 1 T 0.0 P -0.997 T Uncertain 8_145168824_T->C 8 145168824 145168824 T C snp 2936.77 1/1 99 100 0 100 1.0 ncRNA_intronic rs7836836 KIAA1875 AU 0.873602 0.998 0.9191 0.9902 Uncertain 8_145170440_A->C 8 145170440 145170440 A C snp 1555.77 1/1 99 56 0 56 1.0 ncRNA_exonic rs12543080 KIAA1875 AU 0.821885 0.998 0.9387 0.9946 0.21 T 0.0 P -1.013 T 0.0 T 0.0 T Uncertain 8_145170704_A->T 8 145170704 145170704 A T snp 2372.77 1/1 99 91 0 91 1.0 ncRNA_exonic rs13278106 KIAA1875 AU 0.984425 1 0.9985 1 0.16 T 0.0 P -1.024 T 0.0 T 0.0 T Uncertain 8_145171003_G->C 8 145171003 145171003 G C snp 459.77 1/1 36 12 0 12 1.0 ncRNA_exonic rs4977193 KIAA1875 AU 0.900759 1 0.9704 1 0.17 T 0.0 P -1.030 T 0.0 T 0.0 T Uncertain 8_145171201_A->G 8 145171201 145171201 A G snp 3753.77 1/1 99 142 0 142 1.0 ncRNA_exonic rs1132230 KIAA1875 AU 0.909145 1 0.9855 1 Uncertain 8_145223191_G->A 8 145223191 145223191 G A snp 220.84 1/1 18 6 0 6 1.0 intronic rs6982878 MROH1 AU NM_001099280 exon4 c.4468-6G>A 0.844449 1 0.846656 0.9644 1 Uncertain 8_145223288_C->T 8 145223288 145223288 C T snp 1515.77 1/1 99 52 1 51 0.98 exonic rs34819224 MROH1 AU nonsynonymous SNV NM_001099281 exon3 c.C113T p.A38V 0.805711 1 0.813166 0.9464 0.9999 0.31 T 0.0 P -0.960 T 0.003 T 0.004 T Pathogenic 8_145223499_G->A 8 145223499 145223499 G A snp 987.77 1/1 72 32 0 32 1.0 intronic rs6558308 MROH1 AU NM_001099280 exon4 c.4614+156G>A 0.995807 1 Uncertain 8_145234508_G->C 8 145234508 145234508 G C snp 4856.77 1/1 99 178 0 178 1.0 intronic rs7842771 MROH1 AU NM_001099280 exon5 c.15760+19G>C 0.851637 0.998 0.855290 0.9320 0.9922 Uncertain 8_145245631_T->C 8 145245631 145245631 T C snp 1301.77 1/1 96 36 0 36 1.0 intronic rs6558318 MROH1 AU NM_001099280 exon8 c.26957-55T>C 0.850839 0.996 Uncertain 8_145245944_A->G 8 145245944 145245944 A G snp 1957.77 1/1 99 57 0 57 1.0 intronic rs10108542 MROH1 AU NM_001099280 exon8 c.27109+106A>G 0.986222 1 Uncertain 8_145247168_G->A 8 145247168 145247168 G A snp 120.78 0/1 27 5 1 4 0.8 intronic rs6988451 MROH1 AU NM_001099280 exon10 c.28482-43G>A 0.426917 0.2371 0.412905 0.4870 0.302 Uncertain 8_145254159_T->C 8 145254159 145254159 T C snp 1713.77 1/1 99 55 0 55 1.0 intronic rs7464776 MROH1 AU NM_001099280 exon11 c.35374+56T>C 0.986422 1 0.985326 Uncertain 8_145255553_C->G 8 145255553 145255553 C G snp 826.77 1/1 60 25 0 25 1.0 intronic rs6558320 MROH1 AU NM_001099280 exon12 c.36715+109C>G 0.986222 1 0.9954 1 Uncertain 8_145267725_C->T 8 145267725 145267725 C T snp 243.84 0/1 18 8 1 7 0.88 intronic rs66506549 MROH1 AU NM_001099280 exon13 c.49167-171C>T 0.426118 0.2579 Uncertain 8_145278171_G->A 8 145278171 145278171 G A snp 70.77 0/1 99 19 15 4 0.21 intronic rs72614052 MROH1 AU NM_032450 exon14 c.59404+38G>A 0.0247604 0.1151 0.000392 0.0116 0.1543 Uncertain 8_145557497_A->C 8 145557497 145557497 A C snp 1250.77 1/1 90 44 0 44 1.0 exonic rs7013127 SCRT1 AU nonsynonymous SNV NM_031309 exon2 c.T397G p.S133A 0.942292 0.9921 0.7857 1 0.97 T 0.000 P -0.985 T 0.0 T 0.0 T Pathogenic 8_145577824_C->G 8 145577824 145577824 C G snp 4248.77 1/1 99 146 1 145 0.99 intronic TMEM249 AU NM_001252404 exon3 c.843+15C>G 0.520168 0.6944 0.5662 0.7335 Uncertain 8_145577829_A->C 8 145577829 145577829 A C snp 4043.77 1/1 99 135 0 135 1.0 intronic TMEM249 AU NM_001252404 exon3 c.843+20A>C 0.520168 0.6944 0.5716 0.75 Uncertain 8_145577999_T->A 8 145577999 145577999 T A snp 1427.77 1/1 99 56 0 56 1.0 intronic TMEM249 AU NM_001252402 exon4 c.984+8T>A 0.532748 0.6944 0.5497 0.7357 Uncertain 8_145578296_A->G 8 145578296 145578296 A G snp 2002.77 1/1 99 70 2 68 0.97 exonic TMEM249 AU synonymous SNV NM_001252402 exon1 c.T132C p.F44F 0.567692 0.6984 0.5661 0.7071 Uncertain 8_145579931_C->G 8 145579931 145579931 C G snp 1405.77 0/1 99 155 90 65 0.42 intronic FBXL6 AU NM_012162 exon3 c.769-28C>G 0.0100 0.0130 Uncertain 8_145579932_C->T 8 145579932 145579932 C T snp 1333.77 0/1 99 154 89 65 0.42 intronic FBXL6 AU NM_012162 exon3 c.769-27C>T 0.0100 0.0151 Uncertain 8_145579936_C->T 8 145579936 145579936 C T snp 1521.77 0/1 99 149 79 70 0.47 intronic FBXL6 AU NM_012162 exon3 c.769-23C>T 0.0101 0.0141 Uncertain 8_145579943_C->A 8 145579943 145579943 C A snp 1622.77 0/1 99 143 72 71 0.5 intronic FBXL6 AU NM_012162 exon3 c.769-16C>A 0.38139 0.4534 0.0105 0.0153 Uncertain 8_145579950_G->A 8 145579950 145579950 G A snp 1629.77 0/1 99 139 67 72 0.52 intronic FBXL6 AU NM_012162 exon3 c.769-9G>A 0.372005 0.4534 0.0095 0.0132 Uncertain 8_145579953_T->A 8 145579953 145579953 T A snp 2263.77 1/1 99 73 0 73 1.0 intronic FBXL6 AU NM_012162 exon3 c.769-6T>A 0.372005 0.4534 0.0064 0.0074 Uncertain 8_145579954_G->A 8 145579954 145579954 G A snp 2169.77 1/1 99 73 1 72 0.99 splicing FBXL6 AU NM_012162 exon3 c.769-5G>A 0.372005 0.4534 0.0053 0.0045 Pathogenic 8_145580984_A->G 8 145580984 145580984 A G snp 2290.77 1/1 99 72 0 72 1.0 intronic FBXL6 AU NM_012162 exon7 c.1908-114A>G 0.643171 0.6875 Uncertain 8_145581557_G->A 8 145581557 145581557 G A snp 499.77 1/1 39 14 0 14 1.0 intronic FBXL6 AU NM_012162 exon8 c.2256+111G>A 0.511382 0.6885 Uncertain 8_145582839_T->C 8 145582839 145582839 T C snp 2106.77 1/1 99 73 0 73 1.0 splicing SLC52A2 AR 0.457268 0.6875 Pathogenic 8_145603114_A->C 8 145603114 145603114 A C snp 6568.77 1/1 99 237 0 237 1.0 exonic rs6599528 ADCK5 AU nonsynonymous SNV NM_174922 exon2 c.A51C p.R17S 0.632388 0.6577 0.541756 0.5255 0.6562 0.84 T 0.0 P -0.944 T 0.0 T 0.001 T Pathogenic 8_145615776_G->A 8 145615776 145615776 G A snp 339.78 1/1 27 9 0 9 1.0 intronic rs1383095 ADCK5 AU NM_174922 exon4 c.18086-94G>A 0.458466 0.6577 Uncertain 8_145617535_GGGGGTGCAAGGTGA->- 8 145617535 145617549 GGGGGTGCAAGGTGA - indel 6459.73 1/1 99 58 0 58 1.0 exonic rs148509143 ADCK5 AU frameshift deletion NM_174922 exon12 c.1257_1267del p.L419fs 0.626997 0.6577 0.419412 0.4883 0.5135 ID=COSM242846;OCCURENCE=2(prostate),2(skin) Pathogenic 8_145618309_G->A 8 145618309 145618309 G A snp 1176.77 1/1 87 35 0 35 1.0 UTR3 rs1052951 ADCK5 AU 0.460264 0.6706 0.311082 0.5208 0.7181 Uncertain 8_145618312_G->A 8 145618312 145618312 G A snp 1111.77 1/1 81 34 0 34 1.0 UTR3 rs1052952 ADCK5 AU 0.451478 0.6706 0.301430 0.5190 0.7145 Uncertain 8_145618862_C->G 8 145618862 145618862 C G snp 1315.77 1/1 96 44 0 44 1.0 intronic rs2272661 CPSF1 AU NM_013291 exon3 c.349-19C>G 0.517372 0.6696 0.276767 0.4393 0.6560 Uncertain 8_145619663_G->A 8 145619663 145619663 G A snp 1095.77 0/1 99 112 63 49 0.44 exonic CPSF1 AU synonymous SNV NM_013291 exon32 c.C3675T p.A1225A 0.000998403 7.668e-05 0 Uncertain 8_145620296_C->G 8 145620296 145620296 C G snp 4437.77 1/1 99 144 0 144 1.0 intronic CPSF1 AU NM_013291 exon10 c.1780-16C>G 0.548123 0.6706 0.446154 0.4989 0.6751 Uncertain 8_145621556_A->G 8 145621556 145621556 A G snp 297.78 1/1 24 9 0 9 1.0 intronic CPSF1 AU NM_013291 exon13 c.3030-6A>G 0.634585 0.6587 0.534302 0.5579 0.6743 Uncertain 8_145622923_T->C 8 145622923 145622923 T C snp 3716.77 1/1 99 135 0 135 1.0 intronic CPSF1 AU NM_013291 exon18 c.4425-34T>C 0.500599 0.6597 0.360891 0.4454 0.6615 Uncertain 8_145623005_G->A 8 145623005 145623005 G A snp 1578.77 0/1 99 103 44 59 0.57 exonic CPSF1 AU synonymous SNV NM_013291 exon21 c.C2163T p.L721L 0.00339457 0.0139 0.000077 0.0019 0.0216 Uncertain 8_145623098_T->C 8 145623098 145623098 T C snp 4702.77 1/1 99 171 0 171 1.0 splicing CPSF1 AU NM_013291 exon18 c.4562+4T>C 0.515974 0.6597 0.385248 0.4467 0.6631 Pathogenic 8_145623382_-->GGGCCCAACCACCTCCCCG 8 145623382 145623382 - GGGCCCAACCACCTCCCCG indel 11053.7 1/1 99 60 0 60 1.0 intronic CPSF1 AU NM_013291 exon19 c.4815+35insGGGCCCAACCACCTCCCCG 0.454473 0.6518 0.285228 0.0613 0.1527 Uncertain 8_145623446_C->A 8 145623446 145623446 C A snp 216.84 1/1 18 8 1 7 0.88 intronic CPSF1 AU NM_013291 exon19 c.4815+99C>A Uncertain 8_145623622_C->A 8 145623622 145623622 C A snp 239.78 1/1 24 13 0 13 1.0 intronic rs7388125 CPSF1 AU NM_013291 exon20 c.5159-69C>A 0.26857 0.4663 Uncertain 8_145623881_-->CCCAGGT 8 145623881 145623881 - CCCAGGT indel 16177.7 1/1 99 215 1 214 1.0 intronic CPSF1 AU NM_013291 exon21 c.5382-33insCCCAGGT 0.451877 0.6508 0.4173 0.6566 Uncertain 8_145623963_G->A 8 145623963 145623963 G A snp 6594.77 1/1 99 249 0 249 1.0 exonic CPSF1 AU synonymous SNV NM_013291 exon18 c.C1704T p.D568D 0.459065 0.6597 0.326157 0.4228 0.6616 Uncertain 8_145624640_C->T 8 145624640 145624640 C T snp 3429.77 1/1 99 136 0 136 1.0 intronic CPSF1 AU NM_013291 exon25 c.6133-25C>T 0.459065 0.6597 0.327892 0.4393 0.6648 Uncertain 8_145624866_C->T 8 145624866 145624866 C T snp 2343.77 0/1 99 136 44 92 0.68 exonic CPSF1 AU nonsynonymous SNV NM_013291 exon13 c.G1270A p.V424M 3.51e-05 0.0005 0.12 T 1.000 D -1.029 T 0.034 T 0.044 T Pathogenic 8_145625283_T->C 8 145625283 145625283 T C snp 2275.77 1/1 99 75 0 75 1.0 intronic rs2291135 CPSF1 AU NM_013291 exon28 c.6726+25T>C 0.59405 0.6607 0.476330 0.5655 0.7017 Uncertain 8_145625538_C->G 8 145625538 145625538 C G snp 482.77 0/1 99 37 14 23 0.62 intronic rs141140965 CPSF1 AU NM_013291 exon30 c.7027-21C>G 0.6866 0.7350 Uncertain 8_145639521_T->C 8 145639521 145639521 T C snp 1235.77 1/1 90 45 0 45 1.0 intronic SLC39A4 AR NM_130849 exon6 c.1558+42T>C 0.979832 0.999 0.953971 0.9599 0.9995 Uncertain 8_145640137_G->A 8 145640137 145640137 G A snp 1280.77 0/1 99 119 66 53 0.45 exonic SLC39A4 AR synonymous SNV NM_130849 exon5 c.C948T p.P316P 0.0157748 0.0774 0.000154 0.0060 0.0777 Uncertain 8_145640411_A->G 8 145640411 145640411 A G snp 3857.77 1/1 99 137 0 137 1.0 exonic SLC39A4 AR nonsynonymous SNV NM_130849 exon4 c.T751C p.W251R 0.984625 1 0.966549 0.9678 0.9997 0.41 T 0.0 P -0.958 T 0.0 T 0.0 T ID=CM021685;DIS=Acrodermatitis enteropathica;TAG=DM?;PUB=12032886 DM? Pathogenic 8_145661320_G->A 8 145661320 145661320 G A snp 2621.77 1/1 99 87 0 87 1.0 exonic rs2721140 TONSL AU synonymous SNV NM_013432 exon17 c.C2496T p.A832A 0.46865 0.4246 0.436921 0.4954 0.4491 Uncertain 8_145661675_G->A 8 145661675 145661675 G A snp 1555.77 1/1 99 45 0 45 1.0 exonic rs7830832 TONSL AU nonsynonymous SNV NM_013432 exon17 c.C2141T p.A714V 0.442292 0.4246 0.418237 0.4603 0.4183 0.33 T 0.0 P -0.927 T 0.011 T 0.011 T Pathogenic 8_145662377_A->C 8 145662377 145662377 A C snp 7218.77 1/1 99 250 0 250 1.0 ncRNA_exonic rs2242270 TONSL-AS1 AU 0.437899 0.498 0.396279 0.4412 0.4896 Uncertain 8_145665516_T->C 8 145665516 145665516 T C snp 4176.77 1/1 99 154 1 153 0.99 exonic rs2306383 TONSL AU synonymous SNV NM_013432 exon11 c.A1368G p.L456L 0.914537 0.8065 0.963066 0.9612 0.7888 Uncertain 8_145665637_A->G 8 145665637 145665637 A G snp 3021.77 1/1 99 102 0 102 1.0 intronic rs2620650 TONSL AU NM_013432 exon16 c.11068+44A>G 0.918131 0.8065 0.965161 0.9605 0.7889 Uncertain 8_145665699_C->T 8 145665699 145665699 C T snp 2748.77 1/1 99 93 0 93 1.0 intronic rs2721188 TONSL AU NM_013432 exon17 c.11208-34C>T 0.646166 0.4921 0.649869 0.6182 0.4640 Uncertain 8_145667405_C->G 8 145667405 145667405 C G snp 1099.77 1/1 81 30 0 30 1.0 intronic rs2242264 TONSL AU NM_013432 exon20 c.12894-14C>G 0.941494 0.8065 0.990225 0.9688 0.7863 Uncertain 8_145668443_G->A 8 145668443 145668443 G A snp 1924.77 1/1 99 60 0 60 1.0 intronic rs760477 TONSL AU NM_013432 exon23 c.13995-77G>A 0.415735 0.4018 Uncertain 8_145668481_C->T 8 145668481 145668481 C T snp 3899.77 1/1 99 139 0 139 1.0 intronic rs2242263 TONSL AU NM_013432 exon23 c.13995-39C>T 0.403554 0.3978 0.4572 0.4622 Uncertain 8_145677469_A->G 8 145677469 145677469 A G snp 504.77 1/1 39 15 0 15 1.0 intronic rs2245052 CYHR1 AU NM_138496 exon2 c.1980-272A>G 0.935703 0.8085 Uncertain 8_145677973_C->T 8 145677973 145677973 C T snp 4326.77 1/1 99 145 0 145 1.0 intronic rs2256094 CYHR1 AU NM_138496 exon2 c.2192+20C>T 0.877995 0.8075 0.938896 0.9637 0.8346 Uncertain 8_145678020_C->T 8 145678020 145678020 C T snp 2096.77 1/1 99 75 0 75 1.0 intronic rs1871538 CYHR1 AU NM_138496 exon2 c.2192+67C>T 0.857628 0.8095 Uncertain 8_145689915_G->A 8 145689915 145689915 G A snp 3719.77 1/1 99 127 0 127 1.0 exonic rs2721167 CYHR1 AU synonymous SNV NM_138496 exon2 c.C174T p.H58H 0.914137 0.8075 0.965769 0.9638 0.7921 Uncertain 8_145690112_CTCT->- 8 145690112 145690115 CTCT - indel 1573.73 1/1 72 32 0 32 1.0 intronic rs3832555 CYHR1 AU NM_032687 exon2 c.682-79_682-76delCTCT 0.409545 0.5536 Uncertain 8_145690308_C->T 8 145690308 145690308 C T snp 5619.77 1/1 99 205 0 205 1.0 UTR5 rs2721166 CYHR1 AU 0.914137 0.8075 0.966168 0.9649 0.7976 Uncertain 8_145690348_G->A 8 145690348 145690348 G A snp 6574.77 1/1 99 235 0 235 1.0 UTR5 rs2620644 CYHR1 AU 0.914137 0.8075 0.9676 0.7960 0 D 0.000 P -1.015 T Uncertain 8_145690396_A->C 8 145690396 145690396 A C snp 6169.77 1/1 99 228 0 228 1.0 UTR5 rs2620645 CYHR1 AU 0.9373 0.8075 0.9849 0.7881 0 D 0.000 P -1.034 T Uncertain 8_145692110_C->T 8 145692110 145692110 C T snp 139.03 1/1 12 5 0 5 1.0 intronic rs2306388 KIFC2 AU NM_145754 exon2 c.340-32C>T 0.915335 0.8075 0.985268 0.9897 0.8284 Uncertain 8_145692296_A->C 8 145692296 145692296 A C snp 1955.77 1/1 99 74 0 74 1.0 intronic rs2250895 KIFC2 AU NM_145754 exon3 c.539-45A>C 0.9373 0.8075 0.990485 0.9699 0.7948 Uncertain 8_145692385_C->T 8 145692385 145692385 C T snp 1886.77 1/1 99 63 0 63 1.0 exonic rs2250891 KIFC2 AU synonymous SNV NM_145754 exon3 c.C222T p.G74G 0.914137 0.8075 0.973039 0.9649 0.7935 Uncertain 8_145692812_C->T 8 145692812 145692812 C T snp 6870.77 1/1 99 250 1 249 1.0 intronic rs2250779 KIFC2 AU NM_145754 exon5 c.1065-55C>T 0.914137 0.8075 Uncertain 8_145693720_A->G 8 145693720 145693720 A G snp 2952.77 1/1 99 108 0 108 1.0 exonic rs2250657 KIFC2 AU synonymous SNV NM_145754 exon8 c.A819G p.A273A 0.95028 0.8075 0.999077 0.9738 0.7895 1.000 P -1.002 T Likely benign 8_145693896_AG->- 8 145693896 145693897 AG - indel 475.73 0/1 99 32 21 11 0.34 intronic rs144325336 KIFC2 AU NM_145754 exon9 c.2116-22_2116-21delAG 0.00459265 0.0218 0.001056 0.0033 0.0346 Uncertain 8_145697244_G->A 8 145697244 145697244 G A snp 1661.77 1/1 99 55 1 54 0.98 intronic rs4925823 KIFC2 AU NM_145754 exon13 c.5522-80G>A 0.9373 0.8075 Uncertain 8_145699601_T->C 8 145699601 145699601 T C snp 1944.77 1/1 99 71 1 70 0.99 UTR3 rs2721176 FOXH1 AU 0.945687 0.8075 0.995775 0.9709 0.7930 Uncertain 8_145723419_T->G 8 145723419 145723419 T G snp 1716.77 1/1 99 64 0 64 1.0 intronic rs2721149 PPP1R16A AU NM_032902 exon1 c.259+583T>G 0.492612 0.5179 0.5601 0.54 0 D 0.0 P -0.941 T Uncertain 8_145724275_T->C 8 145724275 145724275 T C snp 4402.77 1/1 99 148 0 148 1.0 intronic rs3816732 PPP1R16A AU NM_032902 exon3 c.1721-23T>C 0.405551 0.5387 0.355890 0.4660 0.4972 Uncertain 8_145729727_C->A 8 145729727 145729727 C A snp 2249.77 1/1 99 82 0 82 1.0 exonic rs1063739 GPT AU nonsynonymous SNV NM_005309 exon1 c.C40A p.H14N 0.432708 0.5377 0.386171 0.4747 0.4942 0.86 T 0.0 P -0.938 T 0.0 T 0.0 T CLINSIG=non-pathogenic;CLNDBN=GLUTAMIC_PYRUVATE_TRANSAMINASE_POLYMORPHISM;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000017468.1;CLNDSDB=.;CLNDSDBID=. Pathogenic 8_145730330_G->A 8 145730330 145730330 G A snp 6911.77 1/1 99 250 1 249 1.0 intronic rs2101039 GPT AU NM_005309 exon4 c.693-50G>A 0.399561 0.5337 0.348508 0.4286 0.4955 Uncertain 8_145732032_G->A 8 145732032 145732032 G A snp 992.77 0/1 99 81 41 40 0.49 exonic rs200508853 GPT AU nonsynonymous SNV NM_005309 exon9 c.G1280A p.R427H 0.000399361 0.002 0.0004 0.0063 0.08 T 1 N -0.468 T 0.0 T 0.003 T Pathogenic 8_145737040_C->T 8 145737040 145737040 C T snp 4634.77 1/1 99 162 0 162 1.0 intronic rs2279243 RECQL4 AR NM_004260 exon2 c.250-23C>T 0.393171 0.5248 0.346001 0.4640 0.4866 Uncertain 8_145737286_G->A 8 145737286 145737286 G A snp 5724.77 1/1 99 208 1 207 1.0 intronic rs756627 RECQL4 AR NM_004260 exon3 c.480-7G>A 0.400559 0.5357 0.349969 0.4670 0.4904 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000080895.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 8_145737514_G->A 8 145737514 145737514 G A snp 4904.77 1/1 99 177 0 177 1.0 intronic rs4244610 RECQL4 AR NM_004260 exon4 c.713-12G>A 0.433307 0.503 0.393245 0.5063 0.4747 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000080894.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 8_145737636_A->G 8 145737636 145737636 A G snp 6913.77 1/1 99 250 0 250 1.0 exonic rs4925828 RECQL4 AR synonymous SNV NM_004260 exon19 c.T3127C p.L1043L 0.946086 0.7966 0.998406 0.9728 0.7806 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000153817.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 8_145737816_C->T 8 145737816 145737816 C T snp 5402.77 1/1 99 188 2 186 0.99 exonic rs4251691 RECQL4 AR nonsynonymous SNV NM_004260 exon18 c.G3014A p.R1005Q 0.384385 0.4762 0.341911 0.4612 0.4412 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000080892.4;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 8_145738582_GG->- 8 145738582 145738583 GG - indel 1162.73 0/1 31 56 9 47 0.84 intronic rs565544396 RECQL4 AR NM_004260 exon8 c.1787-18_1787-17delGG 0.539537 0.6349 0.4121 0.3669 Uncertain 8_145738768_G->- 8 145738768 145738768 G - indel 6771.73 1/1 99 162 0 162 1.0 splicing rs11342077 RECQL4 AR NM_004260 exon9 c.1955delG 1 1 0.9999 1 Pathogenic 8_145739025_G->A 8 145739025 145739025 G A snp 2134.77 0/1 99 184 102 82 0.45 exonic rs757037180 RECQL4 AR synonymous SNV NM_004260 exon13 c.C2130T p.R710R 2.113e-05 0 Uncertain 8_145739205_G->A 8 145739205 145739205 G A snp 153.77 0/1 99 9 4 5 0.56 intronic rs4925829 RECQL4 AR NM_004260 exon11 c.2498-106G>A Uncertain 8_145739214_T->A 8 145739214 145739214 T A snp 98.77 0/1 99 8 4 4 0.5 intronic rs2620653 RECQL4 AR NM_004260 exon11 c.2498-97T>A Uncertain 8_145739218_A->G 8 145739218 145739218 A G snp 222.84 1/1 18 6 0 6 1.0 intronic rs13267993 RECQL4 AR NM_004260 exon11 c.2498-93A>G 0.999401 1 Uncertain 8_145739924_G->A 8 145739924 145739924 G A snp 6655.77 1/1 99 233 0 233 1.0 intronic rs4244611 RECQL4 AR NM_004260 exon13 c.3096+15G>A 0.394569 0.503 0.350524 0.4802 0.4746 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000080886.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 8_145741130_C->T 8 145741130 145741130 C T snp 3592.77 1/1 99 109 0 109 1.0 intronic rs4251689 RECQL4 AR NM_004260 exon17 c.4334-17C>T 0.400958 0.501 0.364964 0.4716 0.4636 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000080884.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 8_145741702_C->G 8 145741702 145741702 C G snp 3385.77 1/1 99 117 0 117 1.0 exonic rs4244612 RECQL4 AR nonsynonymous SNV NM_004260 exon5 c.G801C p.E267D 0.447684 0.4821 0.391865 0.4377 0.4458 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000080899.4;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 8_145741765_G->A 8 145741765 145741765 G A snp 5936.77 1/1 99 220 0 220 1.0 exonic rs4244613 RECQL4 AR synonymous SNV NM_004260 exon5 c.C738T p.S246S 0.370008 0.4831 0.339164 0.4394 0.4450 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000080898.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 8_145742514_A->G 8 145742514 145742514 A G snp 2439.77 1/1 99 87 0 87 1.0 exonic rs2721190 RECQL4 AR nonsynonymous SNV NM_004260 exon4 c.T274C p.S92P 0.943291 0.8065 0.995166 0.9733 0.8026 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000121962.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 8_145742716_C->A 8 145742716 145742716 C A snp 431.77 1/1 33 13 0 13 1.0 intronic rs2721189 RECQL4 AR NM_004260 exon20 c.5984-81C>A 0.948482 0.8036 Uncertain 8_145742879_T->C 8 145742879 145742879 T C snp 2023.77 1/1 99 71 0 71 1.0 exonic rs2306386 RECQL4 AR synonymous SNV NM_004260 exon3 c.A132G p.E44E 0.57508 0.5238 0.550692 0.5552 0.4972 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000080885.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 8_145745182_T->C 8 145745182 145745182 T C snp 7224.77 1/1 99 250 0 250 1.0 exonic rs2721172 LRRC14 AU synonymous SNV NM_014665 exon2 c.T73C p.L25L 0.947684 0.8036 0.999000 0.9740 0.7908 Uncertain 8_145747920_T->G 8 145747920 145747920 T G snp 4567.77 1/1 99 162 0 162 1.0 exonic rs13277542 LRRC24 AU nonsynonymous SNV NM_001024678 exon5 c.A1481C p.E494A 0.426318 0.5228 0.333192 0.5646 0.5290 0.25 T 0.0 P -0.922 T 0.0 T 0.001 T Pathogenic 8_145748741_C->G 8 145748741 145748741 C G snp 1500.77 0/1 99 141 70 71 0.5 exonic LRRC24 AU nonsynonymous SNV NM_001024678 exon5 c.G660C p.K220N 0.12 T 0.954 D -1.060 T 0.42 T 0.098 T Pathogenic 8_145750138_T->C 8 145750138 145750138 T C snp 1904.77 1/1 99 75 2 73 0.97 UTR3 rs2721138 LRRC14 AU 0.558706 0.5119 0.569076 0.5934 0.6731 Uncertain 8_145752900_C->T 8 145752900 145752900 C T snp 742.77 1/1 54 31 0 31 1.0 exonic rs11557085 C8orf82 AU synonymous SNV NM_001001795 exon3 c.G477A p.P159P 0.394169 0.5099 0.7136 . 1.000 P -0.911 T Likely benign 8_145756331_T->C 8 145756331 145756331 T C snp 50.74 1/1 6 2 0 2 1.0 intronic rs2620648 ARHGAP39 AU NM_025251 exon2 c.450+76T>C 0.94389 0.8185 Uncertain 8_145762993_G->T 8 145762993 145762993 G T snp 320.77 0/1 99 16 4 12 0.75 intronic rs140034753 ARHGAP39 AU NM_025251 exon6 c.7299-111G>T 0.00319489 0.0149 Uncertain 8_145771211_C->G 8 145771211 145771211 C G snp 398.77 1/1 30 12 0 12 1.0 intronic rs2721161 ARHGAP39 AU NM_025251 exon7 c.15389+17C>G 0.61262 0.6181 0.596406 0.6078 0.6046 Uncertain 8_145772564_C->T 8 145772564 145772564 C T snp 1018.77 0/1 99 84 37 47 0.56 exonic rs117351287 ARHGAP39 AU nonsynonymous SNV NM_025251 exon6 c.G1906A p.V636I 0.0061901 0.0298 0.000077 0.0036 0.0416 0.35 T 1 N -1.054 T 0.002 T 0.004 T Pathogenic 8_145806681_A->G 8 145806681 145806681 A G snp 881.77 1/1 63 31 0 31 1.0 intronic rs2620647 ARHGAP39 AU NM_025251 exon10 c.50856+20A>G 0.997204 0.9861 0.9997 0.9941 Uncertain 8_145830757_A->G 8 145830757 145830757 A G snp 1546.77 1/1 99 50 0 50 1.0 intronic rs4541972 ARHGAP39 AU NM_025251 exon11 c.75114-162A>G 0.9373 0.755 Uncertain 8_145830895_T->- 8 145830895 145830895 T - indel 7382.73 1/1 99 179 0 179 1.0 intronic rs398096227 ARHGAP39 AU NM_025251 exon11 c.75114-24delT 1 1 1 1 Uncertain 8_145926258_A->C 8 145926258 145926258 A C snp 507.77 0/1 99 25 8 17 0.68 intergenic rs2976635 ARHGAP39 AU 0.185304 0.369 Uncertain 8_145947776_G->A 8 145947776 145947776 G A snp 1434.77 0/1 99 133 71 62 0.47 exonic rs2722468 ZNF251 AU synonymous SNV NM_138367 exon5 c.C1269T p.H423H 0.103035 0.372 0.003837 0.0538 0.3891 Uncertain 8_145999617_TTT->- 8 145999617 145999619 TTT - indel 4743.73 0/1 99 181 90 91 0.5 exonic rs3830702 ZNF34 AU nonframeshift deletion NM_001286770 exon5 c.595_597del p.199_199del 0.136981 0.3651 0.063003 0.1218 0.3797 Uncertain 8_146000095_A->G 8 146000095 146000095 A G snp 347.78 1/1 27 11 0 11 1.0 intronic rs2958493 ZNF34 AU NM_030580 exon1 c.1340+105A>G 0.421126 0.6935 Uncertain 8_146000129_G->A 8 146000129 146000129 G A snp 139.03 1/1 12 4 0 4 1.0 intronic rs2955202 ZNF34 AU NM_030580 exon1 c.1340+139G>A 0.420927 0.6935 Uncertain 8_146003567_A->G 8 146003567 146003567 A G snp 2777.77 1/1 99 98 0 98 1.0 intronic rs2294120 ZNF34 AU NM_030580 exon3 c.4899+18A>G 0.427516 0.7391 0.340429 0.4725 0.7379 Uncertain 8_146028061_A->G 8 146028061 146028061 A G snp 584.77 1/1 45 17 0 17 1.0 intronic rs2958527 ZNF517 AU 1 1 Uncertain 8_146033347_T->C 8 146033347 146033347 T C snp 3110.77 1/1 99 102 0 102 1.0 exonic rs2976653 ZNF517 AU nonsynonymous SNV NM_213605 exon5 c.T1046C p.V349A 0.994609 1 0.995338 0.9917 1 0.04 T 0.0 P -1.024 T 0.0 T 0.0 T Pathogenic 8_146035358_A->G 8 146035358 146035358 A G snp 174.9 1/1 15 5 0 5 1.0 downstream rs2979082 ZNF517 AU 0.609026 0.7272 Uncertain 8_146036012_C->T 8 146036012 146036012 C T snp 1249.77 0/1 99 88 39 49 0.56 intergenic rs2953882 ZNF517 AU 0.13758 0.3611 Uncertain 8_146036234_A->G 8 146036234 146036234 A G snp 340.78 1/1 27 13 0 13 1.0 intergenic rs2958511 ZNF517 AU 0.996605 1 Uncertain 8_146054703_C->T 8 146054703 146054703 C T snp 204.8 0/1 21 8 1 7 0.88 intronic rs1735157 ZNF7 AU NM_001282795 exon3 c.357-126C>T 0.283147 0.3046 Uncertain 8_146056152_C->T 8 146056152 146056152 C T snp 40.77 0/1 31 3 1 2 0.67 intronic rs1735159 ZNF7 AU NM_003416 exon3 c.517+1163C>T 0.530351 0.5823 Uncertain 8_146056279_C->T 8 146056279 146056279 C T snp 1500.77 0/1 99 126 59 67 0.53 intronic rs12682087 ZNF7 AU NM_003416 exon3 c.517+1290C>T 0.0844649 0.124 0.0931 0.1831 Uncertain 8_146062982_G->A 8 146062982 146062982 G A snp 143.77 0/1 99 16 10 6 0.38 intronic rs1735165 ZNF7 AU NM_003416 exon4 c.8420+90G>A 0.252396 0.2341 Uncertain 8_146067054_G->A 8 146067054 146067054 G A snp 2059.77 0/1 99 136 55 81 0.6 exonic rs1735169 ZNF7 AU nonsynonymous SNV NM_001282797 exon4 c.G274A p.G92R 0.53115 0.5833 0.479010 0.4417 0.5822 0.21 T 0.000 P -1.064 T 0.0 T 0.0 T Pathogenic 8_146068322_C->T 8 146068322 146068322 C T snp 1348.77 0/1 99 127 66 61 0.48 exonic rs9004 ZNF7 AU synonymous SNV NM_001282797 exon4 c.C1542T p.Y514Y 0.308307 0.3204 0.295633 0.3110 0.3175 Uncertain 8_146068594_T->C 8 146068594 146068594 T C snp 1258.77 1/1 90 45 0 45 1.0 UTR3 rs1735408 ZNF7 AU 0.928315 1 0.851162 0.8626 0.9999 Uncertain 8_146076708_C->T 8 146076708 146076708 C T snp 2408.77 0/1 99 218 112 106 0.49 exonic rs1209879 COMMD5 AU nonsynonymous SNV NM_001081003 exon2 c.G16A p.A6T 0.268371 0.3254 0.274719 0.3319 0.3155 0.48 T 0.000 P -0.949 T 0.099 T 0.025 T Pathogenic 8_146105917_A->T 8 146105917 146105917 A T snp 1213.77 0/1 99 61 18 43 0.7 UTR3 rs1209850 ZNF250 AU 0.516573 0.5526 Uncertain 8_146115367_A->G 8 146115367 146115367 A G snp 4663.77 1/1 99 175 0 175 1.0 exonic rs2735906 ZNF250 AU synonymous SNV NM_001109689 exon3 c.T120C p.G40G 0.910942 1 0.815239 0.8335 0.9998 Uncertain 8_146202386_A->C 8 146202386 146202386 A C snp 1078.77 0/1 99 99 50 49 0.49 ncRNA_exonic rs3866997 ZNF252P AU 0.283746 0.3145 0.1912 0.3490 0.55 T -0.916 T Uncertain 8_146202422_A->G 8 146202422 146202422 A G snp 1167.77 0/1 99 76 33 43 0.57 ncRNA_exonic rs3866998 ZNF252P AU 0.283746 0.3145 0.2023 0.3729 1 T -0.945 T Uncertain 8_146202846_T->C 8 146202846 146202846 T C snp 784.77 0/1 99 64 32 32 0.5 ncRNA_exonic rs72499143 ZNF252P AU 0.159345 0.3036 0.1869 0.4902 Uncertain 8_146203346_T->G 8 146203346 146203346 T G snp 2369.77 0/1 99 236 131 105 0.44 ncRNA_exonic rs12678688 ZNF252P AU 0.282947 0.3145 0.1594 0.3291 1 T 0.999 P -0.927 T 0.0 T 0.0 T Uncertain 8_146203412_A->G 8 146203412 146203412 A G snp 2914.77 0/1 99 249 135 114 0.46 ncRNA_exonic rs2979109 ZNF252P AU 0.580671 0.5079 0.3941 0.5240 0 D 0.762 P -1.021 T 0.01 T 0.008 T Uncertain 8_146218441_C->T 8 146218441 146218441 C T snp 1025.77 0/1 99 76 33 43 0.57 ncRNA_intronic rs6599548 ZNF252P AU 0.30651 0.3224 0.1442 0.3308 Uncertain 8_146218509_C->T 8 146218509 146218509 C T snp 299.77 0/1 99 17 6 11 0.65 ncRNA_intronic rs6599549 ZNF252P AU 0.303914 0.3214 Uncertain 8_146219931_C->G 8 146219931 146219931 C G snp 996.77 0/1 99 104 59 45 0.43 ncRNA_exonic rs13438994 ZNF252P AU 0.225839 0.3056 0.1046 0.3077 -0.950 T Uncertain 8_146220011_G->T 8 146220011 146220011 G T snp 761.77 0/1 99 72 41 31 0.43 ncRNA_intronic rs13439873 ZNF252P AU 0.304113 0.3214 Uncertain 8_146220446_G->A 8 146220446 146220446 G A snp 2759.77 0/1 99 216 100 116 0.54 ncRNA_exonic rs4489360 TMED10P1 AU 0.305711 0.3214 0.2155 0.3378 Uncertain 8_146221823_A->T 8 146221823 146221823 A T snp 760.77 1/1 57 23 0 23 1.0 ncRNA_exonic rs2978409 TMED10P1 AU 1 1 1 1 Uncertain 8_146221893_A->G 8 146221893 146221893 A G snp 974.77 0/1 99 77 35 42 0.55 ncRNA_exonic rs4302882 TMED10P1 AU 0.303514 0.3214 0.1654 0.3258 Uncertain 8_146222122_C->T 8 146222122 146222122 C T snp 68.77 0/1 97 10 7 3 0.3 ncRNA_exonic rs2978441 TMED10P1 AU 0.491613 0.5 Uncertain 8_146225112_C->T 8 146225112 146225112 C T snp 604.77 0/1 99 58 31 27 0.47 ncRNA_exonic rs2272714 ZNF252P AU 0.220847 0.3056 Uncertain 8_146228390_C->T 8 146228390 146228390 C T snp 503.77 0/1 99 36 17 19 0.53 ncRNA_exonic rs2294042 ZNF252P-AS1 AU 0.349441 0.3175 0.2338 0.3291 Uncertain 8_146228622_C->A 8 146228622 146228622 C A snp 2923.77 0/1 99 250 131 119 0.48 ncRNA_exonic rs2294043 ZNF252P-AS1 AU 0.35623 0.3373 0.1532 0.3039 -0.950 T 0.927 T 0.801 D Uncertain 8_146228779_T->A 8 146228779 146228779 T A snp 2200.77 0/1 99 199 100 99 0.5 ncRNA_exonic rs77308683 ZNF252P-AS1 AU 0.194888 0.3036 0.0943 0.28 -1.060 T 0.997 D 0.958 D Uncertain 9_154795_T->C 9 154795 154795 T C snp 1548.77 1/1 99 60 1 59 0.98 exonic CBWD1 AU synonymous SNV NM_001145356 exon8 c.A576G p.R192R 0.786941 0.7232 0.763854 0.7555 0.7080 Uncertain 9_154933_T->G 9 154933 154933 T G snp 43.77 0/1 72 4 2 2 0.5 intronic CBWD1 AU NM_018491 exon8 c.33329+138T>G 0.257588 0.4008 Uncertain 9_215494_C->T 9 215494 215494 C T snp 77.78 0/1 24 4 1 3 0.75 UTR5 rs7869327 C9orf66 AU 0.199281 0.2649 Uncertain 9_271638_C->T 9 271638 271638 C T snp 1002.77 0/1 99 90 48 42 0.47 exonic rs506121 DOCK8 AR nonsynonymous SNV NM_203447 exon2 c.C65T p.A22V 0.307708 0.375 0.318879 0.3245 0.3806 0.01 T 1.000 P -0.952 T 0.001 T 0.0 T CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000150504.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 9_286593_C->A 9 286593 286593 C A snp 1227.77 0/1 99 124 66 58 0.47 exonic rs529208 DOCK8 AR nonsynonymous SNV NM_203447 exon3 c.C289A p.P97T 0.529752 0.7212 0.464247 0.5206 0.7443 0.05 T 0.991 P -0.961 T 0.996 D 0.978 D CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000155526.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 ID=COSM3763874,COSM3763875;OCCURENCE=1(large_intestine) Pathogenic 9_289481_-->AT 9 289481 289481 - AT indel 3405.73 0/1 99 158 86 72 0.46 intronic rs34722895 DOCK8 AR NM_203447 exon4 c.74533-28insAT 0.401837 0.3375 0.2470 Uncertain 9_316998_C->T 9 316998 316998 C T snp 933.77 0/1 99 100 61 39 0.39 intronic rs2296824 DOCK8 AR NM_203447 exon7 c.102066-44C>T 0.433307 0.1369 0.535599 0.4270 0.1257 Uncertain 9_317195_G->A 9 317195 317195 G A snp 430.77 0/1 99 43 25 18 0.42 intronic rs10813355 DOCK8 AR NM_203447 exon7 c.102152+67G>A 0.460663 0.1369 Uncertain 9_317218_A->C 9 317218 317218 A C snp 214.77 0/1 99 25 15 10 0.4 intronic rs3818557 DOCK8 AR NM_203447 exon7 c.102152+90A>C 0.0533147 0.0377 Uncertain 9_325811_-->C 9 325811 325811 - C indel 1535.73 0/1 99 77 35 42 0.55 intronic rs3831138 DOCK8 AR NM_203447 exon8 c.110761+74insC 0.698283 0.7093 Uncertain 9_325817_T->C 9 325817 325817 T C snp 2070.77 1/1 99 64 0 64 1.0 intronic rs2360277 DOCK8 AR NM_203447 exon8 c.110761+80T>C 0.883586 0.8304 Uncertain 9_327938_G->C 9 327938 327938 G C snp 609.77 0/1 99 36 13 23 0.64 intronic rs2296825 DOCK8 AR NM_203447 exon9 c.113045-83G>C 0.675519 0.7093 Uncertain 9_327957_T->G 9 327957 327957 T G snp 689.77 0/1 99 44 18 26 0.59 intronic rs2296826 DOCK8 AR NM_203447 exon9 c.113045-64T>G 0.439896 0.7004 Uncertain 9_328006_T->C 9 328006 328006 T C snp 1141.77 0/1 99 94 46 48 0.51 intronic rs2296828 DOCK8 AR NM_203447 exon9 c.113045-15T>C 0.695887 0.7113 0.668384 0.6886 0.7255 Uncertain 9_332639_C->T 9 332639 332639 C T snp 99.28 1/1 9 3 0 3 1.0 intronic rs7865508 DOCK8 AR NM_203447 exon10 c.117502+161C>T 0.878195 0.8224 Uncertain 9_334337_A->G 9 334337 334337 A G snp 1500.77 0/1 99 123 55 68 0.55 exonic rs10970979 DOCK8 AR nonsynonymous SNV NM_203447 exon11 c.A1238G p.N413S 0.199681 0.0377 0.282024 0.2488 0.0317 1 T 0.971 P -0.939 T 0.0 T 0.0 T CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000150508.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 ID=COSM3765452,COSM3765451;OCCURENCE=1(thyroid),1(central_nervous_system) Pathogenic 9_370370_G->A 9 370370 370370 G A snp 957.77 0/1 99 71 35 36 0.51 intronic rs11515377 DOCK8 AR NM_203447 exon16 c.155324+70G>A 0.00519169 0.0238 Uncertain 9_376785_C->G 9 376785 376785 C G snp 321.78 1/1 27 9 0 9 1.0 intronic rs10738969 DOCK8 AR NM_203447 exon20 c.162000-191C>G 0.830072 0.8879 Uncertain 9_376929_A->G 9 376929 376929 A G snp 2453.77 1/1 99 93 0 93 1.0 intronic rs7020921 DOCK8 AR NM_203447 exon20 c.162000-47A>G 0.56889 0.8095 0.511388 0.6446 0.8102 Uncertain 9_379965_T->C 9 379965 379965 T C snp 2687.77 1/1 99 84 0 84 1.0 intronic rs10758420 DOCK8 AR NM_203447 exon21 c.164959+30T>C 0.944688 1 0.932262 0.9617 0.9989 Uncertain 9_382810_C->G 9 382810 382810 C G snp 517.77 0/1 99 25 8 17 0.68 intronic rs3739598 DOCK8 AR NM_203447 exon22 c.167709+125C>G 0.189696 0.0992 Uncertain 9_390599_A->G 9 390599 390599 A G snp 2267.77 0/1 99 192 101 91 0.47 intronic rs150256811 DOCK8 AR NM_203447 exon24 c.175590+33A>G 0.00239617 0.0119 0.0007 0.0085 Uncertain 9_399275_-->C 9 399275 399275 - C indel 1134.73 0/1 99 75 26 49 0.65 intronic rs3831174 DOCK8 AR NM_203447 exon26 c.184283+16insC 0.267514 0.2634 0.2072 Uncertain 9_399281_A->C 9 399281 399281 A C snp 45.77 0/1 74 70 56 14 0.2 intronic rs372335504 DOCK8 AR NM_203447 exon26 c.184283+22A>C 0.175719 0.1905 0.0339 0.0483 Uncertain 9_406805_-->C 9 406805 406805 - C indel 156.73 0/1 99 11 6 5 0.45 intronic rs35423045 DOCK8 AR NM_203447 exon28 c.191953-124insC 0.639976 0.629 Uncertain 9_407157_-->A 9 407157 407157 - A indel 915.73 0/1 99 56 19 37 0.66 intronic rs60568745 DOCK8 AR NM_203447 exon28 c.192093+88insA 0.296925 0.5089 Uncertain 9_407227_A->G 9 407227 407227 A G snp 78.77 0/1 99 7 3 4 0.57 intronic rs4741867 DOCK8 AR NM_203447 exon28 c.192093+158A>G 0.4998 0.5109 Uncertain 9_417918_A->G 9 417918 417918 A G snp 302.77 0/1 99 27 15 12 0.44 intronic rs7024113 DOCK8 AR NM_203447 exon30 c.203091-149A>G 0.401957 0.4683 Uncertain 9_417990_T->C 9 417990 417990 T C snp 972.77 0/1 99 85 45 40 0.47 intronic rs7027996 DOCK8 AR NM_203447 exon30 c.203091-77T>C 0.43131 0.4663 Uncertain 9_418003_T->C 9 418003 418003 T C snp 1008.77 0/1 99 93 49 44 0.47 intronic rs10814836 DOCK8 AR NM_203447 exon30 c.203091-64T>C 0.303514 0.4653 Uncertain 9_418272_T->C 9 418272 418272 T C snp 347.77 0/1 99 20 6 14 0.7 intronic rs7031432 DOCK8 AR NM_203447 exon30 c.203231+65T>C 0.394369 0.4663 Uncertain 9_418276_T->G 9 418276 418276 T G snp 320.77 0/1 99 17 4 13 0.76 intronic rs12352911 DOCK8 AR NM_203447 exon30 c.203231+69T>G 0.209864 0.4653 Uncertain 9_421860_A->G 9 421860 421860 A G snp 245.77 0/1 99 22 13 9 0.41 intronic rs2297080 DOCK8 AR NM_203447 exon33 c.207071-187A>G 0.222244 0.4683 Uncertain 9_422157_T->C 9 422157 422157 T C snp 1236.77 0/1 99 129 79 50 0.39 intronic rs10217719 DOCK8 AR NM_203447 exon33 c.207159+22T>C 0.624401 0.9504 0.565431 0.6562 0.9581 Uncertain 9_429719_T->C 9 429719 429719 T C snp 1745.77 1/1 99 62 0 62 1.0 exonic rs7854035 DOCK8 AR synonymous SNV NM_203447 exon36 c.T4491C p.F1497F 0.999401 1 0.996771 0.9978 0.9999 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000155534.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 9_432081_T->C 9 432081 432081 T C snp 602.77 1/1 45 15 0 15 1.0 intronic rs1329377 DOCK8 AR NM_203447 exon37 c.217189-84T>C 0.715655 0.9772 Uncertain 9_432141_TT->- 9 432141 432142 TT - indel 1724.73 1/1 99 59 5 54 0.92 intronic rs34439675 DOCK8 AR NM_203447 exon37 c.217189-24_217189-23delTT 0.585463 0.7401 0.5669 0.6549 Uncertain 9_432330_C->G 9 432330 432330 C G snp 4562.77 1/1 99 172 0 172 1.0 splicing rs7036567 DOCK8 AR NM_203447 exon37 c.217348+6C>G 0.714257 0.9772 0.669230 0.7577 0.9871 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000150514.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 9_432470_C->T 9 432470 432470 C T snp 108.77 0/1 99 9 5 4 0.44 intronic rs10974403 DOCK8 AR NM_203447 exon37 c.217348+146C>T 0.192292 0.3938 Uncertain 9_432503_T->C 9 432503 432503 T C snp 56.74 1/1 6 2 0 2 1.0 intronic rs7046598 DOCK8 AR NM_203447 exon37 c.217348+179T>C 0.713059 0.9772 Uncertain 9_433697_T->A 9 433697 433697 T A snp 826.77 1/1 63 22 0 22 1.0 intronic rs7020380 DOCK8 AR NM_203447 exon38 c.218898-177T>A 0.723243 0.9772 Uncertain 9_433708_C->T 9 433708 433708 C T snp 1055.77 1/1 78 28 0 28 1.0 intronic rs7041371 DOCK8 AR NM_203447 exon38 c.218898-166C>T 0.703474 0.9772 Uncertain 9_433978_A->G 9 433978 433978 A G snp 2789.77 1/1 99 101 0 101 1.0 splicing rs2360712 DOCK8 AR NM_203447 exon38 c.218999+3A>G 0.721046 0.9772 0.674919 0.7588 0.9871 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000150515.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 9_439102_G->C 9 439102 439102 G C snp 609.77 1/1 48 20 1 19 0.95 intronic rs10733508 DOCK8 AR NM_203447 exon40 c.224268-142G>C 0.725839 0.9851 Uncertain 9_439352_A->G 9 439352 439352 A G snp 800.77 0/1 99 74 41 33 0.45 exonic rs111535933 DOCK8 AR synonymous SNV NM_203447 exon40 c.A5187G p.V1729V 0.0113818 0.0258 0.000384 0.0086 0.0340 CLINSIG=non-pathogenic;CLNDBN=not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000124778.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Uncertain 9_439467_A->C 9 439467 439467 A C snp 141.03 1/1 12 4 0 4 1.0 intronic rs10217568 DOCK8 AR NM_203447 exon40 c.224412+79A>C 0.685104 0.9851 Uncertain 9_441158_C->T 9 441158 441158 C T snp 258.77 0/1 99 21 10 11 0.52 intronic rs78512868 DOCK8 AR NM_203447 exon41 c.226309-127C>T 0.0111821 0.0258 Uncertain 9_441827_C->T 9 441827 441827 C T snp 1258.77 1/1 90 42 0 42 1.0 intronic rs10974467 DOCK8 AR NM_203447 exon42 c.226898-47C>T 0.786342 0.994 0.723316 0.7870 0.9913 Uncertain 9_441952_G->A 9 441952 441952 G A snp 3794.77 1/1 99 136 0 136 1.0 exonic rs1887957 DOCK8 AR synonymous SNV NM_203447 exon42 c.G5433A p.E1811E 0.803914 0.994 0.742888 0.8201 0.9968 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000155535.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 ID=COSM4163899,COSM4163900;OCCURENCE=1(thyroid) Uncertain 9_442030_C->T 9 442030 442030 C T snp 3463.77 1/1 99 129 0 129 1.0 intronic rs1887958 DOCK8 AR NM_203447 exon42 c.227033+21C>T 0.392772 0.4058 0.306628 0.3516 0.4734 Uncertain 9_442034_T->G 9 442034 442034 T G snp 1236.77 0/1 99 127 69 58 0.46 intronic rs77504122 DOCK8 AR NM_203447 exon42 c.227033+25T>G 0.0109824 0.0238 0.000384 0.0086 0.0337 Uncertain 9_442134_C->T 9 442134 442134 C T snp 381.77 0/1 99 31 18 13 0.42 intronic rs191102007 DOCK8 AR NM_203447 exon42 c.227033+125C>T 0.0105831 0.0238 Uncertain 9_446352_G->C 9 446352 446352 G C snp 3521.77 1/1 99 126 0 126 1.0 intronic rs10814952 DOCK8 AR NM_203447 exon44 c.231393-17G>C 0.632987 0.9841 0.558281 0.6887 0.9884 Uncertain 9_449700_G->T 9 449700 449700 G T snp 229.84 1/1 18 8 0 8 1.0 intronic rs2031946 DOCK8 AR NM_203447 exon45 c.234807-83G>T 0.226238 0.4484 Uncertain 9_450060_A->G 9 450060 450060 A G snp 93.28 1/1 9 3 0 3 1.0 intronic rs10121936 DOCK8 AR NM_203447 exon45 c.234951+133A>G 0.876797 0.995 Uncertain 9_463783_G->A 9 463783 463783 G A snp 364.77 0/1 99 31 16 15 0.48 intronic rs144093300 DOCK8 AR NM_203447 exon47 c.248711+96G>A 0.0111821 0.0198 Uncertain 9_464331_T->C 9 464331 464331 T C snp 219.77 0/1 88 11 4 7 0.64 UTR3 rs10974618 DOCK8 AR 0.119808 0.0397 Uncertain 9_676745_A->G 9 676745 676745 A G snp 41.77 0/1 66 4 2 2 0.5 intronic rs12685605 KANK1 AU 0.0972444 0.2351 Uncertain 9_676820_A->G 9 676820 676820 A G snp 1017.77 0/1 99 58 23 35 0.6 intronic rs1570474 KANK1 AU 0.586262 0.5992 Uncertain 9_676837_-->G 9 676837 676837 - G indel 1857.73 0/1 99 79 32 47 0.59 intronic rs3831027 KANK1 AU 0.547724 0.5992 Uncertain 9_676954_T->C 9 676954 676954 T C snp 2709.77 0/1 99 200 87 113 0.56 UTR5 rs2296055 KANK1 AU 0.463458 0.5923 0.360680 0.3088 0.5752 Uncertain 9_712060_G->C 9 712060 712060 G C snp 1797.77 0/1 99 124 52 72 0.58 exonic rs4465020 KANK1 AU nonsynonymous SNV NM_015158 exon3 c.G1294C p.E432Q 0.235224 0.123 0.288021 0.3392 0.1238 0.39 T 0.000 P -0.942 T 0.36 T 0.09 T Pathogenic 9_712599_C->T 9 712599 712599 C T snp 1115.77 0/1 99 101 56 45 0.45 exonic rs11789987 KANK1 AU synonymous SNV NM_015158 exon3 c.C1833T p.N611N 0.252995 0.126 0.312471 0.3486 0.1246 ID=COSM3750179;OCCURENCE=1(large_intestine) Uncertain 9_730460_G->A 9 730460 730460 G A snp 92.28 1/1 9 3 0 3 1.0 intronic rs74343447 KANK1 AU NM_015158 exon4 c.53276+212G>A 0.294329 0.6141 Uncertain 9_742342_A->G 9 742342 742342 A G snp 2672.77 1/1 99 87 0 87 1.0 exonic rs10733535 KANK1 AU synonymous SNV NM_015158 exon10 c.A3834G p.G1278G 0.997604 1 0.993388 0.9953 1 ID=COSM3763985,COSM3763984,COSM3763986;OCCURENCE=1(large_intestine) Uncertain 9_841825_C->T 9 841825 841825 C T snp 604.77 0/1 99 43 18 25 0.58 UTR5 rs3739584 DMRT1 AU 0.22524 0.4702 0.128891 0.2592 0.5204 Uncertain 9_841971_T->A 9 841971 841971 T A snp 1053.77 0/1 99 72 29 43 0.6 exonic rs3739583 DMRT1 AU nonsynonymous SNV NM_021951 exon1 c.T133A p.S45T 0.224641 0.4722 0.114785 0.2678 0.5315 0.65 T 0.0 P -0.916 T 0.016 T 0.007 T ID=COSM3750181;OCCURENCE=1(oesophagus),3(large_intestine) Pathogenic 9_967939_-->CTCCCTTT 9 967939 967939 - CTCCCTTT indel 8413.73 1/1 99 99 0 99 1.0 intronic rs112866575 DMRT1 AU NM_021951 exon5 c.126146-45insCTCCCTTT 0.140735 0.0797 0.2957 Uncertain 9_967981_G->C 9 967981 967981 G C snp 3102.77 1/1 99 116 0 116 1.0 splicing rs279895 DMRT1 AU NM_021951 exon5 c.126146-3G>C 0.936102 0.998 0.877518 0.8825 0.9983 Pathogenic 9_968150_-->T 9 968150 968150 - T indel 1532.73 1/1 99 38 0 38 1.0 UTR3 rs531364677 DMRT1 AU 0.292732 0.2897 0.223137 0.2016 0.3137 Uncertain 9_990840_C->T 9 990840 990840 C T snp 2514.77 0/1 99 250 143 107 0.43 exonic rs7021244 DMRT3 AU synonymous SNV NM_021240 exon2 c.C1254T p.V418V 0.185503 0.2312 0.163924 0.2207 0.2063 ID=COSM3764083;OCCURENCE=1(large_intestine) Uncertain 9_991114_A->G 9 991114 991114 A G snp 86.78 0/1 24 4 1 3 0.75 UTR3 rs279877 DMRT3 AU 0.509784 0.5724 Uncertain 9_1056728_G->C 9 1056728 1056728 G C snp 3631.77 0/1 99 249 118 131 0.53 exonic rs3824419 DMRT2 AU nonsynonymous SNV NM_181872 exon4 c.G1141C p.A381P 0.346645 0.4762 0.290558 0.3650 0.4696 0.24 T 0.0 P -0.921 T 0.337 T 0.063 T Pathogenic 9_1057318_A->G 9 1057318 1057318 A G snp 844.77 0/1 99 67 34 33 0.49 UTR3 rs9140 DMRT2 AU 0.78155 0.8403 0.683400 0.6825 0.8066 Uncertain 9_2029018_G->A 9 2029018 2029018 G A snp 346.77 0/1 99 15 5 10 0.67 UTR5 rs10964468 SMARCA2 AD 0.152955 0.1141 0.112209 0.1068 0.1404 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000114284.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 9_2029199_G->A 9 2029199 2029199 G A snp 1101.77 0/1 99 115 67 48 0.42 exonic rs10964471 SMARCA2 AD synonymous SNV NM_003070 exon2 c.G177A p.T59T 0.108626 0.2222 0.066585 0.1160 0.2351 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000114287.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 9_2032845_G->A 9 2032845 2032845 G A snp 272.8 1/1 21 10 0 10 1.0 intronic rs1112534 SMARCA2 AD NM_003070 exon3 c.3929-106G>A 0.258187 0.2917 Uncertain 9_2033182_A->C 9 2033182 2033182 A C snp 433.77 0/1 99 30 13 17 0.57 intronic rs1112533 SMARCA2 AD NM_003070 exon3 c.4059+101A>C 0.171526 0.1786 Uncertain 9_2039777_CAG->- 9 2039777 2039779 CAG - indel 627.73 0/1 99 36 13 23 0.64 exonic rs781477472 SMARCA2 AD nonframeshift deletion NM_003070 exon4 c.667_669del p.223_223del 0.1370 0.2633 ID=COSM2156556,COSM2156557;OCCURENCE=1(central_nervous_system) Uncertain 9_2039973_C->T 9 2039973 2039973 C T snp 905.77 0/1 99 92 49 43 0.47 intronic rs10964527 SMARCA2 AD NM_003070 exon4 c.10878+73C>T 0.173722 0.4415 Uncertain 9_2039983_A->C 9 2039983 2039983 A C snp 830.77 0/1 99 79 43 36 0.46 intronic rs10964528 SMARCA2 AD NM_003070 exon4 c.10878+83A>C 0.410144 0.5208 Uncertain 9_2123639_T->C 9 2123639 2123639 T C snp 593.77 0/1 99 47 25 22 0.47 intronic rs3829070 SMARCA2 AD NM_003070 exon27 c.94696-79T>C 0.355631 0.5585 Uncertain 9_2160737_GA->- 9 2160737 2160738 GA - indel 688.73 0/1 99 48 26 22 0.46 intronic rs149515618 SMARCA2 AD NM_001289399 exon2 c.93+828_93+829delGA Uncertain 9_2161949_C->T 9 2161949 2161949 C T snp 2800.77 1/1 99 102 0 102 1.0 intronic rs2274095 SMARCA2 AD NM_001289399 exon3 c.2087+46C>T 0.358427 0.2351 0.373289 0.2863 0.2559 Uncertain 9_2170512_G->C 9 2170512 2170512 G C snp 1751.77 0/1 99 140 62 78 0.56 intronic rs3793511 SMARCA2 AD NM_003070 exon29 c.141450+40G>C 0.403754 0.4554 0.440412 0.4990 0.4542 Uncertain 9_2182062_A->G 9 2182062 2182062 A G snp 1605.77 1/1 99 52 0 52 1.0 intronic rs2281786 SMARCA2 AD NM_001289399 exon5 c.22324-78A>G 0.718251 0.7421 Uncertain 9_2622121_A->G 9 2622121 2622121 A G snp 572.77 0/1 99 72 47 25 0.35 ncRNA_exonic rs12379259 VLDLR-AS1 AU 0.8123 0.8601 Uncertain 9_2622134_C->T 9 2622134 2622134 C T snp 592.77 0/1 99 77 51 26 0.34 ncRNA_exonic rs34881325 VLDLR-AS1 AU 0.309904 0.4246 Uncertain 9_2622278_G->A 9 2622278 2622278 G A snp 143.77 0/1 99 25 16 9 0.36 ncRNA_exonic rs2219143 VLDLR-AS1 AU 0.294928 0.3958 0.3214 0.4407 CLINSIG=probable-non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=no_assertion_criteria_provided|criteria_provided\x2c_single_submitter;CLNACC=RCV000118827.2|RCV000126305.1;CLNDSDB=MedGen|MedGen;CLNDSDBID=CN169374|CN221809 Uncertain 9_2645201_C->G 9 2645201 2645201 C G snp 381.77 1/1 30 10 0 10 1.0 intronic rs2290465 VLDLR AR NM_003383 exon9 c.22893+119C>G 0.258786 0.5992 Uncertain 9_2717698_C->G 9 2717698 2717698 C G snp 986.77 0/1 99 85 42 43 0.51 UTR5 rs7029012 KCNV2 AR 0.671925 0.7907 0.589728 0.6126 0.7976 Uncertain 9_2717922_C->G 9 2717922 2717922 C G snp 1785.77 0/1 99 193 114 79 0.41 exonic rs10967705 KCNV2 AR synonymous SNV NM_133497 exon1 c.C183G p.G61G 0.660343 0.7728 0.587959 0.6116 0.7831 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000082506.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 ID=COSM3763866;OCCURENCE=1(thyroid),1(large_intestine) Uncertain 9_2718498_A->G 9 2718498 2718498 A G snp 1509.77 0/1 99 139 75 64 0.46 exonic rs10967709 KCNV2 AR synonymous SNV NM_133497 exon1 c.A759G p.P253P 0.0802716 0.0288 0.094569 0.1128 0.0312 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000082510.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 9_2718534_C->G 9 2718534 2718534 C G snp 1281.77 0/1 99 127 72 55 0.43 exonic rs12237048 KCNV2 AR synonymous SNV NM_133497 exon1 c.C795G p.A265A 0.480032 0.7173 0.435616 0.4896 0.7209 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000082511.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 9_2811505_G->A 9 2811505 2811505 G A snp 1884.77 0/1 99 161 86 75 0.47 exonic rs2270888 KIAA0020 AU synonymous SNV NM_014878 exon15 c.C1491T p.H497H 0.413738 0.496 0.418038 0.4817 0.5454 Uncertain 9_2828765_C->G 9 2828765 2828765 C G snp 678.77 0/1 99 55 23 32 0.58 exonic rs2173904 KIAA0020 AU nonsynonymous SNV NM_014878 exon9 c.G866C p.R289P 0.57508 0.5407 0.580295 0.5665 0.6006 0.43 T 0.001 P -1.028 T 0.0 T 0.0 T Pathogenic 9_2831149_A->C 9 2831149 2831149 A C snp 963.77 0/1 99 60 21 39 0.65 intronic rs2292000 KIAA0020 AU NM_014878 exon13 c.26920-101A>C 0.581869 0.5585 Uncertain 9_2833267_T->C 9 2833267 2833267 T C snp 228.77 0/1 99 37 28 9 0.24 intronic rs10217194 KIAA0020 AU NM_014878 exon14 c.29026-89T>C 0.553115 0.5506 Uncertain 9_3263224_T->C 9 3263224 3263224 T C snp 182.9 1/1 15 5 0 5 1.0 intronic rs633893 RFX3 AU NM_001282116 exon5 c.38043+140T>C 0.807907 0.9196 Uncertain 9_3270190_G->T 9 3270190 3270190 G T snp 50.74 1/1 6 2 0 2 1.0 intronic rs640168 RFX3 AU NM_001282116 exon7 c.45329-180G>T 0.982628 1 Uncertain 9_3277260_A->G 9 3277260 3277260 A G snp 2098.77 1/1 99 68 0 68 1.0 intronic rs2304929 RFX3 AU NM_001282116 exon10 c.52298-79A>G 0.127995 0.3611 Uncertain 9_3344994_C->G 9 3344994 3344994 C G snp 71.77 0/1 30 4 1 3 0.75 intronic rs3758194 RFX3 AU NM_001282116 exon15 c.121625-1672C>G 0.00579073 0.0258 Uncertain 9_3346544_-->CT 9 3346544 3346544 - CT indel 215.87 1/1 15 5 0 5 1.0 intronic rs34522821 RFX3 AU NM_001282116 exon15 c.121625-122insCT Uncertain 9_3469357_C->T 9 3469357 3469357 C T snp 54.74 1/1 6 2 0 2 1.0 intronic rs1970534 RFX3 AU NM_001282117 exon10 c.217813-19418C>T 0.491414 0.6538 Uncertain 9_3829631_C->T 9 3829631 3829631 C T snp 419.77 1/1 33 11 0 11 1.0 intronic rs2181578 GLIS3 AR NM_152629 exon2 c.1221+139C>T 0.996406 1 Uncertain 9_3879693_C->T 9 3879693 3879693 C T snp 1499.77 1/1 99 54 0 54 1.0 intronic rs4740742 GLIS3 AR NM_152629 exon4 c.51324+98C>T 0.910343 0.999 Uncertain 9_3879791_G->A 9 3879791 3879791 G A snp 93.28 1/1 9 3 0 3 1.0 intronic rs4741863 GLIS3 AR NM_152629 exon4 c.51324+196G>A 0.740615 0.8224 Uncertain 9_3898509_A->T 9 3898509 3898509 A T snp 1049.77 1/1 78 29 0 29 1.0 intronic rs10758532 GLIS3 AR NM_152629 exon5 c.70419-181A>T 0.776158 0.8185 Uncertain 9_3932283_C->G 9 3932283 3932283 C G snp 912.77 0/1 99 81 48 33 0.41 intronic rs535978 GLIS3 AR NM_152629 exon6 c.104088-76C>G 0.404153 0.5258 Uncertain 9_3932521_T->C 9 3932521 3932521 T C snp 4338.77 1/1 99 150 0 150 1.0 intronic rs587571 GLIS3 AR NM_152629 exon6 c.104199+51T>C 0.953674 1 0.950100 0.9850 0.9999 Uncertain 9_3937255_T->A 9 3937255 3937255 T A snp 638.77 0/1 99 52 24 28 0.54 intronic rs676935 GLIS3 AR NM_152629 exon7 c.108918+66T>A 0.373403 0.4058 Uncertain 9_3937288_G->A 9 3937288 3937288 G A snp 441.77 0/1 99 40 20 20 0.5 intronic rs10974212 GLIS3 AR NM_152629 exon7 c.108918+99G>A 0.323882 0.4048 Uncertain 9_3937351_A->G 9 3937351 3937351 A G snp 425.77 1/1 33 13 0 13 1.0 intronic rs570820 GLIS3 AR NM_152629 exon7 c.108918+162A>G 0.363219 0.4315 Uncertain 9_4118111_G->T 9 4118111 4118111 G T snp 1575.77 1/1 99 80 19 61 0.76 exonic rs6415788 GLIS3 AR nonsynonymous SNV NM_152629 exon3 c.C902A p.P301Q 0.676118 0.874 0.669269 0.6730 0.8798 1 T 0.008 P -0.982 T 0.0 T 0.0 T CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000117149.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 ID=COSM3750174,COSM3750175;OCCURENCE=8(large_intestine),3(thyroid) Pathogenic 9_4118208_A->G 9 4118208 4118208 A G snp 2233.77 1/1 99 87 0 87 1.0 exonic rs806052 GLIS3 AR nonsynonymous SNV NM_152629 exon3 c.T805C p.S269P 0.999002 1 0.998715 0.9997 1 0.4 T 0.0 P -1.067 T 0.0 T 0.0 T CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000117148.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 ID=COSM3763945,COSM3763944;OCCURENCE=3(large_intestine),1(thyroid) Pathogenic 9_4285986_G->C 9 4285986 4285986 G C snp 5540.77 1/1 99 202 0 202 1.0 intronic rs10758591 GLIS3 AR NM_001042413 exon10 c.457766-51G>C 0.341254 0.502 0.378096 0.4459 0.5261 Uncertain 9_4490880_T->C 9 4490880 4490880 T C snp 928.77 0/1 99 46 19 27 0.59 intronic rs12002726 SLC1A1 AR,AU NM_004170 exon1 c.91+110T>C 0.694888 0.7897 Uncertain 9_4561374_C->T 9 4561374 4561374 C T snp 4616.77 1/1 99 165 0 165 1.0 intronic rs10974624 SLC1A1 AR,AU NM_004170 exon3 c.70769-74C>T 0.25619 0.4663 Uncertain 9_4561421_T->C 9 4561421 4561421 T C snp 6229.77 1/1 99 227 0 227 1.0 intronic rs72694015 SLC1A1 AR,AU NM_004170 exon3 c.70769-27T>C 0.173722 0.4236 0.088575 0.1560 0.4342 Uncertain 9_4561596_G->A 9 4561596 4561596 G A snp 2842.77 1/1 99 93 0 93 1.0 intronic rs10974625 SLC1A1 AR,AU NM_004170 exon3 c.70862+55G>A 0.271166 0.4663 0.219448 Uncertain 9_4561651_G->A 9 4561651 4561651 G A snp 489.77 1/1 39 13 0 13 1.0 intronic rs1805311 SLC1A1 AR,AU NM_004170 exon3 c.70862+110G>A 0.253994 0.4663 Uncertain 9_4566210_A->C 9 4566210 4566210 A C snp 3736.77 1/1 99 129 0 129 1.0 intronic rs7022772 SLC1A1 AR,AU NM_004170 exon5 c.75410+121A>C 0.797923 0.7252 Uncertain 9_4574022_A->C 9 4574022 4574022 A C snp 2492.77 1/1 99 96 1 95 0.99 intronic rs12682807 SLC1A1 AR,AU NM_004170 exon8 c.83335+8A>C 0.10643 0.255 0.077272 0.1035 0.2404 Uncertain 9_4576680_T->C 9 4576680 4576680 T C snp 2809.77 1/1 99 102 0 102 1.0 exonic rs301430 SLC1A1 AR,AU synonymous SNV NM_004170 exon10 c.T1110C p.T370T 0.458267 0.5883 0.354144 0.3637 0.6094 1.000 P -1.002 T ID=COSM3763952;OCCURENCE=1(large_intestine) Likely benign 9_4576774_G->A 9 4576774 4576774 G A snp 1041.77 1/1 78 30 0 30 1.0 intronic rs1471786 SLC1A1 AR,AU NM_004170 exon10 c.86084+11G>A 0.202077 0.3988 0.121636 0.1674 0.4206 Uncertain 9_4576851_G->C 9 4576851 4576851 G C snp 90.28 1/1 9 3 0 3 1.0 intronic rs301979 SLC1A1 AR,AU NM_004170 exon10 c.86084+88G>C 0.714257 0.7222 Uncertain 9_4582843_T->C 9 4582843 4582843 T C snp 178.9 1/1 15 5 0 5 1.0 intronic rs301435 SLC1A1 AR,AU NM_004170 exon11 c.92358-194T>C 0.627396 0.8502 Uncertain 9_4627871_A->G 9 4627871 4627871 A G snp 290.77 0/1 99 24 14 10 0.42 intronic rs4742023 SPATA6L AU NM_001039395 exon8 c.24911-1219A>G 0.291334 0.3879 0.1702 0.3692 Uncertain 9_4629170_-->AAAA 9 4629170 4629170 - AAAA indel 756.73 0/1 99 21 9 12 0.57 splicing rs34533529 SPATA6L AU NM_001039395 exon8 c.24989+2insAAAA 0.344249 0.4117 0.215778 0.1984 0.4026 Pathogenic 9_4629273_G->A 9 4629273 4629273 G A snp 249.77 0/1 99 18 6 12 0.67 intronic rs4740792 SPATA6L AU NM_001039395 exon8 c.24989+105G>A 0.124002 0.0665 Uncertain 9_4629296_A->C 9 4629296 4629296 A C snp 210.77 0/1 65 14 4 10 0.71 intronic rs4742026 SPATA6L AU NM_001039395 exon8 c.24989+128A>C 0.124201 0.0665 Uncertain 9_4646363_C->T 9 4646363 4646363 C T snp 168.77 0/1 99 20 14 6 0.3 intronic rs301469 SPATA6L AU NM_001039395 exon9 c.57719-15535C>T 0.678714 0.7133 Uncertain 9_4655915_G->C 9 4655915 4655915 G C snp 113.77 0/1 99 9 5 4 0.44 intronic rs7869353 SPATA6L AU NM_001039395 exon9 c.57719-5983G>C 0.485224 0.63 Uncertain 9_4661765_-->TTCA 9 4661765 4661765 - TTCA indel 388.73 0/1 99 9 3 6 0.67 intronic SPATA6L AU NM_001039395 exon9 c.57719-133insTTCA Uncertain 9_4661853_C->T 9 4661853 4661853 C T snp 479.77 0/1 99 64 42 22 0.34 intronic rs301489 SPATA6L AU NM_001039395 exon9 c.57719-45C>T 0.641773 0.6597 0.600457 0.5144 0.6676 Uncertain 9_4662065_G->A 9 4662065 4662065 G A snp 569.77 0/1 99 70 43 27 0.39 intronic rs301488 SPATA6L AU NM_001039395 exon9 c.57857+29G>A 0.29992 0.4534 0.221186 0.2241 0.4794 Uncertain 9_4662369_A->C 9 4662369 4662369 A C snp 171.77 0/1 99 17 9 8 0.47 UTR5 rs301487 PPAPDC2 AU 0.685104 0.7054 0.634805 0.6824 0.7306 Uncertain 9_4666069_-->TCTT 9 4666069 4666069 - TCTT indel 1200.73 0/1 99 31 13 18 0.58 intronic rs60279350 SPATA6L AU NM_001039395 exon10 c.62032-142insTCTT Uncertain 9_4666398_C->A 9 4666398 4666398 C A snp 180.77 0/1 99 19 11 8 0.42 intronic rs57032514 SPATA6L AU NM_001039395 exon11 c.62255-36C>A 0.0648962 0.1667 Uncertain 9_4679906_A->G 9 4679906 4679906 A G snp 2019.77 0/1 99 231 137 94 0.41 intronic rs2295964 CDC37L1 AU NM_017913 exon1 c.132+7A>G 0.570687 0.6032 0.486145 0.4303 0.6289 Uncertain 9_4680014_A->G 9 4680014 4680014 A G snp 489.77 0/1 99 39 22 17 0.44 intronic rs2295965 CDC37L1 AU NM_017913 exon1 c.132+115A>G 0.506589 0.6141 Uncertain 9_4684770_A->G 9 4684770 4684770 A G snp 230.77 0/1 80 10 3 7 0.7 intronic rs10739067 CDC37L1 AU NM_017913 exon2 c.5109-106A>G 0.498003 0.6022 Uncertain 9_4706214_C->T 9 4706214 4706214 C T snp 773.77 0/1 99 55 25 30 0.55 UTR3 rs2181341 CDC37L1 AU 0.491414 0.6002 Uncertain 9_4718667_A->T 9 4718667 4718667 A T snp 86.77 0/1 30 4 1 3 0.75 intronic rs465514 AK3 AU NM_001199856 exon2 c.5562+130A>T 0.509385 0.3671 Uncertain 9_4722685_C->G 9 4722685 4722685 C G snp 598.77 0/1 99 76 48 28 0.37 intronic rs10758645 AK3 AU NM_001199856 exon4 c.9650+60C>G 0.485224 0.7312 Uncertain 9_4722827_C->T 9 4722827 4722827 C T snp 50.74 1/1 6 2 0 2 1.0 intronic rs35843737 AK3 AU NM_001199856 exon4 c.9650+202C>T 0.198882 0.1518 Uncertain 9_4793254_G->A 9 4793254 4793254 G A snp 2241.77 0/1 99 170 75 95 0.56 intronic rs841990 RCL1 AU NM_005772 exon1 c.136+27G>A 0.507588 0.7431 0.527277 0.6124 0.7777 Uncertain 9_4833436_G->A 9 4833436 4833436 G A snp 297.77 0/1 99 16 7 9 0.56 intronic rs463578 RCL1 AU NM_005772 exon4 c.40137+208G>A 0.455272 0.75 Uncertain 9_4833437_C->T 9 4833437 4833437 C T snp 303.77 0/1 99 16 7 9 0.56 intronic rs458552 RCL1 AU NM_005772 exon4 c.40137+209C>T 0.455471 0.751 Uncertain 9_4834034_A->G 9 4834034 4834034 A G snp 349.78 1/1 27 9 0 9 1.0 intronic rs466547 RCL1 AU NM_005772 exon5 c.41049-106A>G 0.890974 0.996 Uncertain 9_4834299_T->G 9 4834299 4834299 T G snp 269.77 0/1 99 20 10 10 0.5 intronic rs2296769 RCL1 AU NM_001286700 exon4 c.110+34T>G 0.257388 0.1677 0.2737 0.1562 Uncertain 9_4844459_G->A 9 4844459 4844459 G A snp 388.77 0/1 99 44 26 18 0.41 intronic rs159432 RCL1 AU NM_001286700 exon6 c.10369-65G>A 0.370008 0.2431 Uncertain 9_4844507_G->T 9 4844507 4844507 G T snp 1622.77 1/1 99 63 0 63 1.0 intronic rs295259 RCL1 AU NM_001286700 exon6 c.10369-17G>T 0.908946 0.996 0.883977 0.8982 0.9995 Uncertain 9_4844704_T->C 9 4844704 4844704 T C snp 110.77 0/1 99 13 9 4 0.31 intronic rs2236497 RCL1 AU NM_001286700 exon6 c.10526+23T>C 0.247005 0.5565 0.178610 0.2216 0.5557 Uncertain 9_4849647_T->C 9 4849647 4849647 T C snp 1286.77 0/1 99 90 47 43 0.48 intronic rs17803780 RCL1 AU NM_001286700 exon7 c.15395+97T>C 0.245208 0.5486 Uncertain 9_4850141_T->C 9 4850141 4850141 T C snp 261.77 0/1 99 17 7 10 0.59 intronic rs12375841 RCL1 AU NM_001286700 exon7 c.15395+591T>C 0.359824 0.244 Uncertain 9_4850421_C->G 9 4850421 4850421 C G snp 992.77 1/1 72 31 0 31 1.0 intronic rs455864 RCL1 AU NM_001286700 exon7 c.15395+871C>G 0.915735 0.996 0.885534 0.9001 0.9995 Uncertain 9_4850431_A->G 9 4850431 4850431 A G snp 369.77 0/1 99 28 14 14 0.5 intronic rs10974810 RCL1 AU NM_001286700 exon7 c.15395+881A>G 0.361621 0.251 0.310775 Uncertain 9_4850436_G->T 9 4850436 4850436 G T snp 333.77 0/1 99 26 13 13 0.5 intronic rs462480 RCL1 AU NM_001286700 exon7 c.15395+886G>T 0.554912 0.745 0.579939 Uncertain 9_4860300_A->G 9 4860300 4860300 A G snp 1049.77 0/1 99 103 58 45 0.44 UTR3 rs15583 RCL1 AU 0.580671 0.4296 0.628710 0.6731 0.4537 Uncertain 9_5055015_C->T 9 5055015 5055015 C T snp 171.9 1/1 15 5 0 5 1.0 intronic rs1536799 JAK2 AU,AD,AO NM_004972 exon7 c.32897+131C>T 0.96885 0.999 Uncertain 9_5073692_C->T 9 5073692 5073692 C T snp 33.77 0/1 62 38 28 10 0.26 splicing JAK2 AU,AD,AO NM_004972 exon14 c.51710-5C>T Pathogenic 9_5304633_A->G 9 5304633 5304633 A G snp 626.77 0/1 99 56 30 26 0.46 upstream rs146743552 RLN2 AU 0.0247604 0.0367 Uncertain 9_5335470_C->T 9 5335470 5335470 C T snp 2012.77 0/1 99 161 70 91 0.57 exonic rs2273782 RLN1 AU synonymous SNV NM_006911 exon2 c.G339A p.Q113Q 0.348842 0.4236 0.261187 0.2899 0.3975 Uncertain 9_5335639_C->T 9 5335639 5335639 C T snp 389.77 1/1 30 10 0 10 1.0 intronic rs2146074 RLN1 AU NM_006911 exon1 c.347+42C>T 0.709864 0.6597 0.685800 0.6968 0.6274 Uncertain 9_5339544_G->T 9 5339544 5339544 G T snp 57.77 0/1 86 12 8 4 0.33 exonic rs144879941 RLN1 AU nonsynonymous SNV NM_006911 exon1 c.C203A p.P68Q 0.0177716 0.0407 0.011596 0.0116 0.0657 0.36 T 1 N -0.716 T 0.43 T 0.096 T Pathogenic 9_5358505_A->G 9 5358505 5358505 A G snp 1030.77 1/1 39 35 1 34 0.97 intronic rs10125658 PLGRKT AU NM_018465 exon1 c.122+145A>G 0.354832 0.1677 Uncertain 9_5361052_G->C 9 5361052 5361052 G C snp 1116.77 0/1 99 105 49 56 0.53 intronic rs2273785 PLGRKT AU NM_018465 exon2 c.2839-25G>C 0.0159744 0.0407 0.008304 0.0053 0.0326 Uncertain 9_5361122_T->G 9 5361122 5361122 T G snp 1471.77 0/1 99 141 71 70 0.5 exonic PLGRKT AU nonsynonymous SNV NM_018465 exon5 c.A278C p.Y93S 0 D 1.000 D 0.286 D 1.0 D 0.987 D Pathogenic 9_5361243_T->C 9 5361243 5361243 T C snp 217.77 0/1 99 30 18 12 0.4 intronic rs74407727 PLGRKT AU NM_018465 exon2 c.2949+56T>C 0.0161741 0.0407 Uncertain 9_5362028_C->A 9 5362028 5362028 C A snp 56.74 1/1 6 2 0 2 1.0 intronic rs2236320 PLGRKT AU NM_018465 exon3 c.3650+140C>A 0.207069 0.1538 Uncertain 9_5463243_G->A 9 5463243 5463243 G A snp 303.78 1/1 24 8 0 8 1.0 intronic rs7041009 CD274 AU NM_001267706 exon3 c.7008+122G>A 0.448682 0.6458 Uncertain 9_5465732_G->A 9 5465732 5465732 G A snp 734.77 1/1 54 21 0 21 1.0 intronic rs2297137 CD274 AU NM_001267706 exon4 c.9493+126G>A 0.22504 0.4891 Uncertain 9_5467955_G->A 9 5467955 5467955 G A snp 1828.77 1/1 99 64 0 64 1.0 UTR3 rs2297136 CD274 AU 0.66853 0.8105 Uncertain 9_5557672_T->C 9 5557672 5557672 T C snp 4417.77 1/1 99 157 0 157 1.0 exonic rs7854303 PDCD1LG2 AU nonsynonymous SNV NM_025239 exon5 c.T686C p.F229S 0.997804 1 0.998770 0.9992 1 0.62 T 0.0 P -1.036 T 0.0 T 0.0 T Pathogenic 9_5720172_C->G 9 5720172 5720172 C G snp 5418.77 1/1 99 183 1 182 0.99 intronic rs10758700 RIC1 AU NM_020829 exon5 c.90872-9C>G 0.495208 0.8591 0.365370 0.4956 0.8822 Uncertain 9_5732483_T->C 9 5732483 5732483 T C snp 5888.77 1/1 99 219 3 216 0.99 splicing rs7850299 RIC1 AU NM_020829 exon7 c.103170+4T>C 0.482428 0.8363 0.356143 0.4862 0.8641 Pathogenic 9_5732533_T->- 9 5732533 5732533 T - indel 1910.73 1/1 99 106 1 105 0.99 intronic rs541531550 RIC1 AU NM_020829 exon7 c.103170+54delT 0.474241 0.7589 Uncertain 9_5762533_A->C 9 5762533 5762533 A C snp 985.77 0/1 99 105 59 46 0.44 intronic rs1543526 RIC1 AU NM_020829 exon18 c.133231-7A>C 0.397764 0.5774 0.328771 0.4043 0.5911 Uncertain 9_5769494_A->T 9 5769494 5769494 A T snp 73.77 0/1 99 12 7 5 0.42 downstream rs1323273 RIC1 AU 0.464457 0.5774 Uncertain 9_5769998_A->G 9 5769998 5769998 A G snp 497.77 0/1 99 30 12 18 0.6 downstream rs734548 RIC1 AU 0.53135 0.5774 Uncertain 9_5770047_A->G 9 5770047 5770047 A G snp 608.77 0/1 99 60 34 26 0.43 downstream rs734549 RIC1 AU 0.370607 0.5774 0.289065 0.4288 0.6257 Uncertain 9_5774225_T->G 9 5774225 5774225 T G snp 1273.77 0/1 99 94 44 50 0.53 intergenic rs3739648 RIC1 AU 0.331869 0.5853 0.249808 0.3517 0.5896 1.000 P -0.909 T ID=COSM3763957;OCCURENCE=1(large_intestine) Uncertain 9_5791151_G->A 9 5791151 5791151 G A snp 783.77 1/1 57 29 0 29 1.0 intronic rs1342854 ERMP1 AU NM_024896 exon2 c.450+3558G>A 0.322284 0.5942 Uncertain 9_5801071_A->G 9 5801071 5801071 A G snp 2267.77 1/1 99 69 1 68 0.99 intronic rs10815283 ERMP1 AU NM_024896 exon5 c.14032-104A>G 0.383387 0.7282 Uncertain 9_5801121_A->G 9 5801121 5801121 A G snp 4823.77 1/1 99 165 0 165 1.0 intronic rs3824444 ERMP1 AU NM_024896 exon5 c.14032-54A>G 0.391573 0.7282 Uncertain 9_5805001_A->G 9 5805001 5805001 A G snp 2304.77 1/1 99 82 0 82 1.0 intronic rs10975289 ERMP1 AU NM_024896 exon6 c.17883-25A>G 0.408347 0.7282 0.280683 0.4439 0.7685 Uncertain 9_5813077_-->T 9 5813077 5813077 - T indel 1876.73 1/1 99 83 0 83 1.0 intronic rs35748220 ERMP1 AU NM_024896 exon11 c.25892+42insT 0.42512 0.7302 0.295255 0.4209 0.7556 Uncertain 9_5824954_A->C 9 5824954 5824954 A C snp 141.03 1/1 12 4 0 4 1.0 intronic rs2275777 ERMP1 AU NM_024896 exon13 c.37948-137A>C 0.393371 0.5694 Uncertain 9_5832728_G->C 9 5832728 5832728 G C snp 1007.77 1/1 72 36 0 36 1.0 exonic rs1131727 ERMP1 AU synonymous SNV NM_024896 exon1 c.C300G p.A100A 0.403554 0.7093 0.4951 0.7019 ID=COSM3750176;OCCURENCE=1(large_intestine) Uncertain 9_5833098_T->A 9 5833098 5833098 T A snp 639.77 0/1 99 73 45 28 0.38 upstream rs550768533 ERMP1 AU 0.00838658 0.0089 Uncertain 9_5914030_G->A 9 5914030 5914030 G A snp 2034.77 0/1 99 178 97 81 0.46 intergenic MLANA AU Uncertain 9_5923326_C->T 9 5923326 5923326 C T snp 686.77 0/1 99 65 40 25 0.38 intronic rs7045445 KIAA2026 AU NM_001017969 exon1 c.3626+17C>T 0.508387 0.5089 0.616564 0.6407 0.5063 Uncertain 9_5929167_T->C 9 5929167 5929167 T C snp 2151.77 1/1 99 76 0 76 1.0 intronic rs7029054 KIAA2026 AU NM_001017969 exon3 c.9476+8T>C 0.780152 0.6667 0.862087 0.8727 0.6823 Uncertain 9_5968416_A->G 9 5968416 5968416 A G snp 6918.77 1/1 99 250 0 250 1.0 exonic rs3739649 KIAA2026 AU synonymous SNV NM_001017969 exon3 c.T1815C p.L605L 0.820887 0.6845 0.919303 0.9231 0.6810 ID=COSM4163941;OCCURENCE=1(thyroid) Uncertain 9_5969249_A->G 9 5969249 5969249 A G snp 1636.77 0/1 99 163 93 70 0.43 exonic rs10739080 KIAA2026 AU synonymous SNV NM_001017969 exon3 c.T982C p.L328L 0.509585 0.5427 0.615655 0.6314 0.5347 Uncertain 9_5969517_C->T 9 5969517 5969517 C T snp 641.77 1/1 48 18 0 18 1.0 intronic rs7030731 KIAA2026 AU NM_001017969 exon6 c.49753+81C>T 0.810304 0.6815 Uncertain 9_5969525_G->A 9 5969525 5969525 G A snp 183.77 0/1 99 14 8 6 0.43 intronic rs10815326 KIAA2026 AU NM_001017969 exon6 c.49753+89G>A 0.146765 0.1141 Uncertain 9_5988333_C->T 9 5988333 5988333 C T snp 3555.77 1/1 99 125 1 124 0.99 intronic rs2291055 KIAA2026 AU NM_001017969 exon7 c.68661-11C>T 0.811102 0.6607 0.911083 0.9162 0.6575 Uncertain 9_6007500_G->A 9 6007500 6007500 G A snp 2792.77 0/1 99 207 91 116 0.56 exonic rs1061767 KIAA2026 AU synonymous SNV NM_001017969 exon1 c.C288T p.G96G 0.170727 0.3194 0.170260 0.2007 0.3265 ID=COSM3763958;OCCURENCE=1(large_intestine) Uncertain 9_6012734_A->C 9 6012734 6012734 A C snp 1300.77 0/1 99 124 70 54 0.44 exonic rs106033 RANBP6 AU synonymous SNV NM_012416 exon1 c.T2874G p.L958L 0.426118 0.4266 0.329310 0.3067 0.4020 Uncertain 9_6253571_C->T 9 6253571 6253571 C T snp 928.77 0/1 99 97 54 43 0.44 exonic rs10975519 IL33 AU synonymous SNV NM_033439 exon6 c.C489T p.Y163Y 0.405152 0.4375 0.329079 0.3770 0.4771 ID=COSM3763959;OCCURENCE=1(large_intestine) Uncertain 9_6253710_G->C 9 6253710 6253710 G C snp 442.77 0/1 99 37 18 19 0.51 intronic rs10975520 IL33 AU NM_001199641 exon3 c.11908+108G>C 0.402756 0.4365 Uncertain 9_6254568_T->A 9 6254568 6254568 T A snp 493.77 0/1 99 41 20 21 0.51 intronic rs10975521 IL33 AU NM_001199641 exon4 c.12859+15T>A 0.407348 0.4365 0.258243 0.3418 0.4126 Uncertain 9_6254593_A->G 9 6254593 6254593 A G snp 284.77 0/1 99 28 16 12 0.43 intronic rs190731328 IL33 AU NM_001199641 exon4 c.12859+40A>G 0.000199681 0.001 0.0001 0.0017 Uncertain 9_6254694_A->C 9 6254694 6254694 A C snp 37.77 0/1 66 8 6 2 0.25 intronic rs7857724 IL33 AU NM_001199641 exon4 c.12859+141A>C 0.485224 0.5645 Uncertain 9_6255881_T->G 9 6255881 6255881 T G snp 730.77 0/1 99 52 25 27 0.52 intronic rs1332290 IL33 AU NM_001199641 exon5 c.14273-86T>G 0.486422 0.5665 Uncertain 9_6328947_T->C 9 6328947 6328947 T C snp 2531.77 1/1 99 89 0 89 1.0 exonic rs3847262 TPD52L3 AU nonsynonymous SNV NM_001001874 exon1 c.T352C p.F118L 0.922524 0.999 0.905351 0.9499 0.9999 0.05 T 1.000 P -1.088 T 0.999 D 0.991 D Pathogenic 9_6330915_G->A 9 6330915 6330915 G A snp 396.77 1/1 30 11 0 11 1.0 UTR3 rs1037885 TPD52L3 AU 0.923323 0.999 0.910808 Uncertain 9_6468447_A->G 9 6468447 6468447 A G snp 1864.77 0/1 99 130 61 69 0.53 intronic rs3739654 UHRF2 AU NM_152896 exon5 c.61900-6943A>G 0.338259 0.251 0.2126 0.2424 Uncertain 9_6475319_G->A 9 6475319 6475319 G A snp 397.77 0/1 99 27 7 20 0.74 intronic rs7852539 UHRF2 AU NM_152896 exon5 c.61900-71G>A 0.33107 0.245 Uncertain 9_6499822_C->- 9 6499822 6499822 C - indel 620.73 0/1 99 40 16 24 0.6 intronic rs57099869 UHRF2 AU NM_152896 exon13 c.86344-12delC 0.291733 0.246 0.2159 0.3037 Uncertain 9_6499994_C->T 9 6499994 6499994 C T snp 452.77 0/1 99 37 20 17 0.46 intronic rs1929929 UHRF2 AU NM_152896 exon13 c.86441+63C>T 0.171526 0.2421 Uncertain 9_6506038_C->T 9 6506038 6506038 C T snp 2325.77 0/1 99 188 88 100 0.53 exonic rs33962342 UHRF2 AU synonymous SNV NM_152896 exon16 c.C2268T p.C756C 0.130192 0.2371 0.084653 0.1346 0.2842 Uncertain 9_6533010_C->G 9 6533010 6533010 C G snp 520.77 1/1 39 14 0 14 1.0 UTR3 rs2228098 GLDC AR 0.755192 0.9563 0.651930 0.6859 0.9503 Uncertain 9_6534508_G->A 9 6534508 6534508 G A snp 226.77 0/1 94 10 3 7 0.7 intronic rs2282161 GLDC AR NM_000170 exon2 c.1691-199G>A 0.356629 0.5238 Uncertain 9_6534845_T->C 9 6534845 6534845 T C snp 519.77 0/1 99 42 21 21 0.5 intronic rs2282160 GLDC AR NM_000170 exon2 c.1772+57T>C 0.425519 0.4613 0.409768 Uncertain 9_6554844_G->C 9 6554844 6554844 G C snp 2455.77 0/1 99 246 133 113 0.46 intronic rs2274874 GLDC AR NM_000170 exon7 c.21765+63G>C 0.270367 0.4246 Uncertain 9_6720831_T->C 9 6720831 6720831 T C snp 818.77 1/1 60 30 0 30 1.0 intergenic rs7040131 GLDC AR 0.339657 0.3651 Uncertain 9_6748784_C->A 9 6748784 6748784 C A snp 98.28 1/1 9 3 0 3 1.0 intergenic rs10975818 GLDC AR 0.387181 0.371 0.2823 0.3774 Uncertain 9_6849405_A->G 9 6849405 6849405 A G snp 245.77 0/1 99 17 7 10 0.59 intronic rs10975854 KDM4C AU NM_001146696 exon5 c.128558-101A>G 0.14397 0.2034 Uncertain 9_6874932_A->- 9 6874932 6874932 A - indel 47.73 0/1 85 39 25 14 0.36 intronic rs773053755 KDM4C AU NM_001146696 exon6 c.159063-5079delA Uncertain 9_6875054_A->G 9 6875054 6875054 A G snp 673.77 0/1 99 73 40 33 0.45 intronic rs12553688 KDM4C AU NM_001146696 exon6 c.159063-4957A>G 0.282748 0.3185 Uncertain 9_6984172_G->A 9 6984172 6984172 G A snp 3475.77 1/1 99 130 0 130 1.0 exonic rs10815499 KDM4C AU synonymous SNV NM_015061 exon10 c.G1122A p.Q374Q 0.0926518 0.2381 0.033677 0.0719 0.2499 Uncertain 9_6986267_T->G 9 6986267 6986267 T G snp 303.78 1/1 24 8 0 8 1.0 intronic rs912207 KDM4C AU NM_001146696 exon11 c.265395-76T>G 0.616813 0.7272 Uncertain 9_6990549_T->- 9 6990549 6990549 T - indel 134.74 0/1 28 24 4 20 0.83 intronic rs71315572 KDM4C AU NM_001146696 exon12 c.269576+25delT 0.2000 0.2076 Uncertain 9_7013909_A->G 9 7013909 7013909 A G snp 2077.77 0/1 99 180 90 90 0.5 exonic rs35389625 KDM4C AU nonsynonymous SNV NM_015061 exon14 c.A2090G p.N697S 0.0469249 0.0863 0.030294 0.0494 0.0790 0.45 T 0.596 D -1.005 T 0.992 D 0.874 D Pathogenic 9_7016001_G->T 9 7016001 7016001 G T snp 2519.77 1/1 99 92 0 92 1.0 intronic rs818883 KDM4C AU NM_001146696 exon15 c.294981+72G>T 1 1 Uncertain 9_7046901_C->G 9 7046901 7046901 C G snp 4631.77 1/1 99 173 2 171 0.99 exonic rs1407856 KDM4C AU nonsynonymous SNV NM_015061 exon16 c.C2299G p.Q767E 0.22504 0.2937 0.134707 0.2149 0.2745 0.41 T 0.941 P -0.968 T 0.055 T 0.057 T Pathogenic 9_7076371_T->C 9 7076371 7076371 T C snp 1660.77 1/1 99 50 0 50 1.0 intronic rs1570511 KDM4C AU NM_001146696 exon18 c.355485-62T>C 0.609824 0.5327 Uncertain 9_7076463_G->A 9 7076463 7076463 G A snp 5959.77 1/1 99 228 0 228 1.0 intronic rs1570512 KDM4C AU NM_001146696 exon18 c.355485+30G>A 0.577476 0.5317 0.6200 0.5049 Uncertain 9_7076586_G->A 9 7076586 7076586 G A snp 4156.77 1/1 99 145 0 145 1.0 intronic rs1570513 KDM4C AU NM_001146696 exon18 c.355485+153G>A 0.783546 0.7639 Uncertain 9_7103816_C->T 9 7103816 7103816 C T snp 1809.77 0/1 99 170 87 83 0.49 exonic rs3763651 KDM4C AU synonymous SNV NM_015061 exon18 c.C2556T p.D852D 0.572085 0.7143 0.491389 0.5079 0.7640 ID=COSM3763962,COSM3763963,COSM3763964;OCCURENCE=1(large_intestine) Uncertain 9_7174430_T->C 9 7174430 7174430 T C snp 182.9 1/1 15 5 0 5 1.0 intronic rs7029684 KDM4C AU NM_015061 exon22 c.381564-122T>C 0.794129 0.746 Uncertain 9_7174433_G->T 9 7174433 7174433 G T snp 218.84 1/1 18 6 0 6 1.0 intronic rs3753003 KDM4C AU NM_015061 exon22 c.381564-119G>T 0.63139 0.744 Uncertain 9_7174773_G->A 9 7174773 7174773 G A snp 797.77 0/1 99 42 13 29 0.69 UTR3 rs913589 KDM4C AU 0.558506 0.5853 0.576272 0.5477 0.6353 Uncertain 9_7798435_C->T 9 7798435 7798435 C T snp 1100.77 1/1 81 34 1 33 0.97 UTR3 rs1254 TMEM261 AU 0.884984 0.8343 0.9463 0.8539 Uncertain 9_7798518_G->C 9 7798518 7798518 G C snp 2639.77 1/1 99 102 0 102 1.0 UTR3 rs4742410 TMEM261 AU 0.913738 0.8294 0.966710 0.9548 0.8486 Uncertain 9_8319806_C->T 9 8319806 8319806 C T snp 1279.77 0/1 99 155 98 57 0.37 intronic rs7873084 PTPRD AU NM_001171025 exon2 c.1957-24C>T 0.442093 0.3869 0.324746 0.2851 0.3936 Uncertain 9_8320065_G->A 9 8320065 8320065 G A snp 185.77 0/1 99 14 8 6 0.43 intronic rs3739578 PTPRD AU NM_001171025 exon2 c.2093+99G>A 0.273363 0.3869 Uncertain 9_8331574_-->AACTTACCATTCCTGAACTGT 9 8331574 8331574 - AACTTACCATTCCTGAACTGT indel 10336.7 0/1 99 134 83 51 0.38 intronic rs146237556 PTPRD AU NM_001171025 exon3 c.13708-7insAACTTACCATTCCTGAACTGT 0.203474 0.3492 0.1669 0.3302 CLINSIG=unknown;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000156187.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 9_8338847_-->AGAGAGAGAGAGAGAG 9 8338847 8338847 - AGAGAGAGAGAGAGAG indel 2502.73 ./1 99 34 0 34 1.0 intronic rs143960430 PTPRD AU NM_001171025 exon4 c.21048-74insAGAGAGAGAGAGAGAG 0.0109824 0.0139 Uncertain 9_8338848_AG->- 9 8338848 8338849 AG - indel 2502.73 ./1 99 34 0 34 1.0 intronic rs4016543 PTPRD AU NM_001171025 exon4 c.21048-73_21048-72delAG 0.220847 0.3482 Uncertain 9_8340155_A->C 9 8340155 8340155 A C snp 44.77 0/1 31 3 1 2 0.67 intronic rs4740935 PTPRD AU NM_001171025 exon5 c.22469-187A>C 0.480631 0.5129 Uncertain 9_8340168_C->A 9 8340168 8340168 C A snp 86.77 0/1 30 4 1 3 0.75 intronic rs4742483 PTPRD AU NM_001171025 exon5 c.22469-174C>A 0.476238 0.5129 Uncertain 9_8341019_A->- 9 8341019 8341019 A - indel 1314.73 0/1 99 67 32 35 0.52 intronic rs35000820 PTPRD AU NM_001171025 exon6 c.23216-70delA 0.198682 0.3413 Uncertain 9_8376287_A->G 9 8376287 8376287 A G snp 94.28 1/1 9 3 0 3 1.0 intronic rs1039336 PTPRD AU NM_001171025 exon8 c.58217+197A>G 0.521965 0.6369 Uncertain 9_8376899_T->C 9 8376899 8376899 T C snp 119.77 0/1 99 7 3 4 0.57 intronic rs2291958 PTPRD AU NM_001171025 exon9 c.58853+173T>C 0.39397 0.5754 Uncertain 9_8389364_C->G 9 8389364 8389364 C G snp 4309.77 1/1 99 163 0 163 1.0 exonic rs2279776 PTPRD AU synonymous SNV NM_002839 exon37 c.G4254C p.G1418G 0.55631 0.6329 0.484699 0.4992 0.6598 Uncertain 9_8436703_C->G 9 8436703 8436703 C G snp 3083.77 1/1 99 109 0 109 1.0 intronic rs1359118 PTPRD AU NM_001171025 exon12 c.118816+14C>G 0.622404 0.6329 0.588588 0.6025 0.6439 Uncertain 9_8451755_T->C 9 8451755 8451755 T C snp 1807.77 0/1 99 127 46 81 0.64 intronic rs10977117 PTPRD AU NM_001171025 exon14 c.131964+1918T>C 0.404752 0.5694 Uncertain 9_8451816_T->A 9 8451816 8451816 T A snp 3679.77 1/1 99 131 0 131 1.0 intronic rs4742505 PTPRD AU NM_001171025 exon14 c.131964+1979T>A 0.774361 0.881 Uncertain 9_8451817_T->C 9 8451817 8451817 T C snp 3884.77 1/1 99 133 0 133 1.0 intronic rs4742506 PTPRD AU NM_001171025 exon14 c.131964+1980T>C 0.774161 0.88 Uncertain 9_8454413_A->G 9 8454413 8454413 A G snp 1959.77 1/1 99 59 0 59 1.0 intronic rs10977121 PTPRD AU NM_130391 exon14 c.136706-166A>G 0.460264 0.6002 Uncertain 9_8465598_A->G 9 8465598 8465598 A G snp 2413.77 0/1 99 233 130 103 0.44 exonic rs2281747 PTPRD AU synonymous SNV NM_002839 exon32 c.T3582C p.A1194A 0.178315 0.3115 0.168564 0.1622 0.3071 Uncertain 9_8500690_T->A 9 8500690 8500690 T A snp 108.77 0/1 99 7 3 4 0.57 intronic rs10815890 PTPRD AU NM_002839 exon23 c.182880-63T>A 0.163538 0.2401 Uncertain 9_8517705_A->G 9 8517705 8517705 A G snp 41.77 0/1 70 4 2 2 0.5 intronic rs10977170 PTPRD AU NM_001171025 exon22 c.199974-142A>G 0.165935 0.2946 Uncertain 9_8518143_T->C 9 8518143 8518143 T C snp 3334.77 0/1 99 250 125 125 0.5 exonic rs7026388 PTPRD AU synonymous SNV NM_002839 exon21 c.A1248G p.A416A 0.307308 0.3919 0.232739 0.2170 0.3833 Uncertain 9_8518395_G->A 9 8518395 8518395 G A snp 1771.77 0/1 99 121 51 70 0.58 exonic rs3763653 PTPRD AU synonymous SNV NM_002839 exon21 c.C996T p.T332T 0.177316 0.2768 0.127576 0.1347 0.2680 Uncertain 9_8518470_C->G 9 8518470 8518470 C G snp 706.77 0/1 99 47 20 27 0.57 intronic rs3763652 PTPRD AU NM_001171025 exon22 c.200556+41C>G 0.162939 0.2798 0.103630 0.1313 0.2727 Uncertain 9_8524854_C->T 9 8524854 8524854 C T snp 1779.77 0/1 99 187 101 86 0.46 intronic rs2273998 PTPRD AU NM_001171025 exon24 c.207051-70C>T 0.138179 0.2897 Uncertain 9_8526493_A->G 9 8526493 8526493 A G snp 415.77 0/1 99 37 17 20 0.54 intronic rs10977181 PTPRD AU NM_130391 exon26 c.208753-133A>G 0.139577 0.2976 Uncertain 9_8527274_TAA->- 9 8527274 8527276 TAA - indel 355.73 0/1 99 14 4 10 0.71 intronic rs34465399 PTPRD AU NM_001171025 exon25 c.209471-70_209471-68delTAA 0.186502 0.2956 Uncertain 9_8528506_A->G 9 8528506 8528506 A G snp 497.77 0/1 99 44 21 23 0.52 intronic rs10758978 PTPRD AU NM_001171025 exon26 c.210717-84A>G 0.141174 0.2956 0.1844 0.4352 Uncertain 9_8528542_A->- 9 8528542 8528542 A - indel 511.73 0/1 99 35 11 24 0.69 intronic rs3215749 PTPRD AU NM_001171025 exon26 c.210717-48delA 0.2946 0.4324 Uncertain 9_12704745_C->T 9 12704745 12704745 C T snp 1074.77 0/1 99 103 59 44 0.43 ncRNA_intronic rs188974830 LURAP1L-AS1 AU 0.00119808 0.006 0.0007 0.0097 Uncertain 9_12775861_-->GGCGGCGGC 9 12775861 12775861 - GGCGGCGGC indel 6679.73 1/1 99 88 2 86 0.98 exonic rs139315731 LURAP1L AU nonframeshift insertion NM_203403 exon1 c.147_148insGGCGGCGGC p.G49delinsGGGG 0.7280 0.7231 ID=COSM243414;OCCURENCE=1(endometrium),9(large_intestine),1(prostate),3(breast),1(central_nervous_system) Uncertain 9_12775889_A->G 9 12775889 12775889 A G snp 3069.77 1/1 99 110 1 109 0.99 exonic rs3750501 LURAP1L AU nonsynonymous SNV NM_203403 exon1 c.A175G p.S59G 0.68131 0.7679 0.7520 0.7684 0.62 T 0.003 P -0.967 T 0.002 T 0.004 T ID=COSM4163333;OCCURENCE=3(thyroid) Pathogenic 9_13109111_C->T 9 13109111 13109111 C T snp 78.28 1/1 9 3 0 3 1.0 intronic rs10732331 MPDZ AR NM_001261406 exon2 c.2095+53C>T 0.96885 1 Uncertain 9_13110844_T->C 9 13110844 13110844 T C snp 613.77 0/1 99 42 18 24 0.57 intronic rs28455695 MPDZ AR NM_001261406 exon4 c.3776+105T>C 0.0788738 0.1607 Uncertain 9_13112116_A->G 9 13112116 13112116 A G snp 4137.77 1/1 99 148 1 147 0.99 exonic rs10809904 MPDZ AR synonymous SNV NM_003829 exon42 c.T5544C p.I1848I 1 1 0.999918 1.0000 1 Uncertain 9_13115422_T->G 9 13115422 13115422 T G snp 1221.77 1/1 52 42 2 40 0.95 intronic rs2274647 MPDZ AR NM_001261406 exon8 c.8370+89T>G 0.430112 0.631 Uncertain 9_13136564_A->T 9 13136564 13136564 A T snp 364.78 1/1 27 14 0 14 1.0 intronic rs10809908 MPDZ AR NM_001261406 exon18 c.29747-146A>T 0.453275 0.4911 Uncertain 9_13147723_T->C 9 13147723 13147723 T C snp 2111.77 1/1 99 71 0 71 1.0 intronic rs7024892 MPDZ AR NM_001261406 exon21 c.40694+66T>C 0.534145 0.502 Uncertain 9_13150531_T->C 9 13150531 13150531 T C snp 1977.77 1/1 99 70 0 70 1.0 exonic rs10756457 MPDZ AR synonymous SNV NM_003829 exon25 c.A3609G p.K1203K 0.477636 0.496 0.410401 0.3553 0.4699 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000146370.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 9_13165218_C->T 9 13165218 13165218 C T snp 313.77 0/1 99 26 16 10 0.38 intronic rs10960959 MPDZ AR NM_001261406 exon24 c.55831+2424C>T 0.457069 0.4891 Uncertain 9_13175716_GAG->- 9 13175716 13175718 GAG - indel 1753.73 0/1 99 49 16 33 0.67 intronic rs3831219 MPDZ AR NM_001261406 exon26 c.68787-34_68787-32delGAG 0.448882 0.494 0.517171 0.5752 0.4919 Uncertain 9_13175987_C->T 9 13175987 13175987 C T snp 694.77 0/1 99 53 27 26 0.49 intronic rs1331674 MPDZ AR NM_001261406 exon26 c.68911+113C>T 0.390575 0.499 Uncertain 9_13176312_C->T 9 13176312 13176312 C T snp 881.77 0/1 99 76 38 38 0.5 exonic rs2274856 MPDZ AR synonymous SNV NM_003829 exon20 c.G2754A p.S918S 0.393171 0.495 0.318029 0.3361 0.4982 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000146369.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 9_13183256_A->G 9 13183256 13183256 A G snp 421.77 1/1 33 11 0 11 1.0 intronic rs10733255 MPDZ AR NM_001261406 exon28 c.76453-160A>G 0.995607 1 Uncertain 9_13192320_C->G 9 13192320 13192320 C G snp 1545.77 1/1 99 51 0 51 1.0 intronic rs1331676 MPDZ AR NM_001261406 exon32 c.85331+26C>G 0.965455 0.996 0.984378 0.9776 0.9966 Uncertain 9_13196419_C->T 9 13196419 13196419 C T snp 95.77 0/1 99 16 11 5 0.31 intronic rs370390624 MPDZ AR NM_001261406 exon34 c.89266+190C>T 0.000399361 0.002 Uncertain 9_13196441_T->A 9 13196441 13196441 T A snp 80.77 0/1 99 7 3 4 0.57 intronic rs4741291 MPDZ AR NM_001261406 exon34 c.89266+212T>A 0.442692 0.4345 Uncertain 9_14120655_A->G 9 14120655 14120655 A G snp 987.77 1/1 36 38 1 37 0.97 intronic rs6474818 NFIB AU NM_001190737 exon4 c.32316+32A>G 0.998602 1 0.998847 0.9997 1 Uncertain 9_14155748_C->G 9 14155748 14155748 C G snp 266.77 0/1 99 20 10 10 0.5 intronic rs151263769 NFIB AU NM_001190737 exon8 c.67516-75C>G 0.0145767 0.0694 Uncertain 9_14155769_T->C 9 14155769 14155769 T C snp 733.77 1/1 54 26 0 26 1.0 intronic rs12349255 NFIB AU NM_001190737 exon8 c.67516-54T>C 0.46865 0.4881 0.632785 Uncertain 9_14306944_A->G 9 14306944 14306944 A G snp 557.77 1/1 42 18 0 18 1.0 intronic rs4741362 NFIB AU NM_001190737 exon10 c.218680-43A>G 0.992612 1 0.988159 0.9970 1 Uncertain 9_14313712_T->G 9 14313712 14313712 T G snp 171.9 1/1 15 5 0 5 1.0 UTR5 rs2273933 NFIB AU 0.754193 0.8998 Uncertain 9_14618856_C->T 9 14618856 14618856 C T snp 627.77 0/1 99 70 40 30 0.43 UTR3 rs3802482 ZDHHC21 AU 0.602636 0.6121 Uncertain 9_14619168_A->G 9 14619168 14619168 A G snp 41.77 0/1 70 5 2 3 0.6 intronic rs10810187 ZDHHC21 AU NM_178566 exon1 c.133+72A>G 0.782348 0.6369 Uncertain 9_14640055_C->T 9 14640055 14640055 C T snp 532.77 0/1 99 41 19 22 0.54 intronic rs6474849 ZDHHC21 AU NM_178566 exon3 c.21047+45C>T 0.880591 0.9216 0.899384 0.9181 0.9211 Uncertain 9_14690419_T->C 9 14690419 14690419 T C snp 413.77 0/1 99 32 17 15 0.47 intronic rs10961672 ZDHHC21 AU NM_178566 exon9 c.71420+36T>C 0.933906 0.9226 0.9447 0.9040 Uncertain 9_14690447_G->T 9 14690447 14690447 G T snp 227.77 0/1 99 19 10 9 0.47 intronic rs2382477 ZDHHC21 AU NM_178566 exon9 c.71420+64G>T 0.941094 0.9246 Uncertain 9_14693270_G->A 9 14693270 14693270 G A snp 243.77 0/1 44 14 2 12 0.86 UTR5 rs71476227 ZDHHC21 AU 0.426318 0.4931 0.4938 0.5547 Uncertain 9_14737506_T->G 9 14737506 14737506 T G snp 3755.77 1/1 99 142 0 142 1.0 exonic rs10961689 FREM1 AU,AD,AR nonsynonymous SNV NM_144966 exon38 c.A6428C p.Q2143P 0.735024 0.7808 0.752570 0.7385 0.7778 0.28 T 0.0 P -1.055 T 0.004 T 0.004 T ID=COSM4163660,COSM4163661;OCCURENCE=1(thyroid) Pathogenic 9_14737616_A->G 9 14737616 14737616 A G snp 1982.77 1/1 99 65 0 65 1.0 intronic rs10961690 FREM1 AU,AD,AR NM_001177704 exon1 c.200+23A>G 0.732228 0.7798 0.745250 0.7420 0.7780 Uncertain 9_14737743_C->A 9 14737743 14737743 C A snp 176.9 1/1 15 5 0 5 1.0 intronic rs10511596 FREM1 AU,AD,AR NM_001177704 exon1 c.200+150C>A 0.728634 0.7798 Uncertain 9_14740300_A->G 9 14740300 14740300 A G snp 798.77 1/1 60 28 0 28 1.0 intronic rs2270528 FREM1 AU,AD,AR NM_001177704 exon2 c.2839+68A>G 0.599241 0.7817 Uncertain 9_14756318_-->A 9 14756318 14756318 - A indel 1258.73 0/1 99 138 79 59 0.43 intronic rs397702444 FREM1 AU,AD,AR NM_001177704 exon9 c.18978-53insA 0.416134 0.5595 Uncertain 9_14756483_A->G 9 14756483 14756483 A G snp 512.77 0/1 99 45 24 21 0.47 intronic rs10810233 FREM1 AU,AD,AR NM_001177704 exon9 c.19051+39A>G 0.421526 0.5645 0.434074 0.5147 0.6176 Uncertain 9_14759725_A->G 9 14759725 14759725 A G snp 3396.77 1/1 99 110 0 110 1.0 intronic rs7045154 FREM1 AU,AD,AR NM_001177704 exon10 c.22376-44A>G 0.976837 1 0.978117 0.9929 1 Uncertain 9_14774329_T->C 9 14774329 14774329 T C snp 911.77 1/1 66 28 0 28 1.0 intronic rs7018782 FREM1 AU,AD,AR NM_001177704 exon13 c.38393-1457T>C 0.972045 1 Uncertain 9_14775729_A->G 9 14775729 14775729 A G snp 244.8 1/1 21 7 0 7 1.0 intronic rs1973389 FREM1 AU,AD,AR NM_001177704 exon13 c.38393-57A>G Uncertain 9_14775853_A->G 9 14775853 14775853 A G snp 2292.77 1/1 99 77 0 77 1.0 exonic rs1032474 FREM1 AU,AD,AR synonymous SNV NM_144966 exon26 c.T4791C p.D1597D 0.847244 0.8502 0.865078 0.8678 0.8701 Uncertain 9_14775859_G->A 9 14775859 14775859 G A snp 1117.77 0/1 99 84 39 45 0.54 exonic rs10733289 FREM1 AU,AD,AR synonymous SNV NM_144966 exon26 c.C4785T p.A1595A 0.416733 0.3294 0.519161 0.5101 0.3188 Uncertain 9_14776140_C->T 9 14776140 14776140 C T snp 2800.77 0/1 99 250 135 115 0.46 exonic rs10961700 FREM1 AU,AD,AR nonsynonymous SNV NM_144966 exon26 c.G4504A p.V1502M 0.0814696 0.0625 0.118932 0.1335 0.0520 0.05 T 0.906 P -1.060 T 0.44 T 0.073 T Pathogenic 9_14784665_A->G 9 14784665 14784665 A G snp 671.77 0/1 99 40 12 28 0.7 intronic rs10810239 FREM1 AU,AD,AR NM_144966 exon14 c.47239+33A>G 0.285543 0.3472 0.257728 0.3175 0.4407 Uncertain 9_14806902_G->A 9 14806902 14806902 G A snp 677.77 0/1 99 53 25 28 0.53 intronic rs12683064 FREM1 AU,AD,AR NM_144966 exon20 c.69451+58G>A 0.186302 0.4881 Uncertain 9_14816829_G->C 9 14816829 14816829 G C snp 1610.77 0/1 99 161 92 69 0.43 exonic rs7041710 FREM1 AU,AD,AR nonsynonymous SNV NM_144966 exon16 c.C2587G p.L863V 0.133387 0.1498 0.128016 0.2037 0.3016 0.3 T 0.0 P -1.022 T 0.001 T 0.001 T Pathogenic 9_14824799_G->A 9 14824799 14824799 G A snp 932.77 0/1 99 61 24 37 0.61 exonic rs12236053 FREM1 AU,AD,AR synonymous SNV NM_144966 exon12 c.C2073T p.S691S 0.151957 0.1716 0.140159 0.1688 0.2208 Uncertain 9_14842267_T->C 9 14842267 14842267 T C snp 425.77 0/1 99 31 12 19 0.61 intronic rs41305315 FREM1 AU,AD,AR NM_144966 exon29 c.104920-46T>C 0.165935 0.4474 0.057145 0.0987 0.4510 Uncertain 9_14846036_C->G 9 14846036 14846036 C G snp 1705.77 0/1 99 142 69 73 0.51 exonic rs2779500 FREM1 AU,AD,AR nonsynonymous SNV NM_144966 exon9 c.G1315C p.V439L 0.500799 0.2708 0.567136 0.6009 0.3220 0.15 T 0.517 P -0.942 T 0.012 T 0.025 T Pathogenic 9_14846122_C->G 9 14846122 14846122 C G snp 1051.77 1/1 78 27 0 27 1.0 intronic rs2642404 FREM1 AU,AD,AR NM_144966 exon30 c.108696+33C>G 0.898962 0.9772 0.832971 0.8428 0.9743 Uncertain 9_14848892_A->G 9 14848892 14848892 A G snp 88.28 1/1 9 3 0 3 1.0 intronic rs1021493 FREM1 AU,AD,AR NM_144966 exon31 c.111378+121A>G 0.910144 0.9831 Uncertain 9_14851617_T->C 9 14851617 14851617 T C snp 4063.77 1/1 99 138 0 138 1.0 intronic rs2818940 FREM1 AU,AD,AR NM_144966 exon32 c.114212+12T>C 0.769569 0.9573 0.727470 0.8054 0.9627 Uncertain 9_14851703_G->A 9 14851703 14851703 G A snp 1031.77 1/1 78 30 0 30 1.0 intronic rs729492 FREM1 AU,AD,AR NM_144966 exon32 c.114212+98G>A 0.667931 0.8185 Uncertain 9_14859356_T->C 9 14859356 14859356 T C snp 1828.77 0/1 99 159 77 82 0.52 exonic rs10961757 FREM1 AU,AD,AR synonymous SNV NM_144966 exon5 c.A456G p.Q152Q 0.248403 0.5367 0.150755 0.2100 0.5560 ID=COSM3763845;OCCURENCE=1(urinary_tract),1(large_intestine) Uncertain 9_14868653_A->T 9 14868653 14868653 A T snp 1223.77 0/1 99 89 44 45 0.51 intronic rs7856810 FREM1 AU,AD,AR NM_144966 exon36 c.131348-88A>T 0.58107 0.7034 Uncertain 9_15000551_T->C 9 15000551 15000551 T C snp 1149.77 1/1 84 47 0 47 1.0 ncRNA_intronic rs7029527 LOC389705 AU 0.66254 0.7262 Uncertain 9_15000684_A->C 9 15000684 15000684 A C snp 404.77 1/1 30 15 0 15 1.0 ncRNA_intronic rs1829852 LOC389705 AU 0.188498 0.2669 Uncertain 9_15183463_A->- 9 15183463 15183463 A - indel 142.73 0/1 97 23 8 15 0.65 intronic rs35283660 TTC39B AU NM_001168341 exon4 c.10397+1050delA 0.4004 0.4219 Uncertain 9_15183532_C->G 9 15183532 15183532 C G snp 103.77 0/1 99 18 13 5 0.28 intronic rs2057478 TTC39B AU NM_001168341 exon4 c.10397+1119C>G 0.70028 0.9167 Uncertain 9_15186789_G->A 9 15186789 15186789 G A snp 58.77 0/1 87 24 19 5 0.21 intronic rs10738390 TTC39B AU NM_001168341 exon6 c.14925-152G>A 0.45028 0.6716 Uncertain 9_15188106_T->C 9 15188106 15188106 T C snp 1314.77 0/1 99 111 58 53 0.48 exonic rs1407977 TTC39B AU nonsynonymous SNV NM_001168341 exon12 c.A1051G p.I351V 0.772564 0.9236 0.663642 0.6816 0.9129 0.55 T 1.000 P -0.987 T 0.002 T 0.012 T Pathogenic 9_15190494_A->C 9 15190494 15190494 A C snp 1251.77 1/1 90 40 0 40 1.0 intronic rs475932 TTC39B AU NM_001168341 exon10 c.18535-57A>C 0.971446 1 Uncertain 9_15190775_C->T 9 15190775 15190775 C T snp 336.77 0/1 99 15 5 10 0.67 intronic rs7848147 TTC39B AU NM_001168341 exon10 c.18644+115C>T 0.523163 0.6508 Uncertain 9_15192720_A->G 9 15192720 15192720 A G snp 1074.77 0/1 99 84 43 41 0.49 intronic rs566820 TTC39B AU NM_001168341 exon12 c.20677+27A>G 0.823882 0.9058 0.782024 0.7948 0.9010 Uncertain 9_15267981_G->C 9 15267981 15267981 G C snp 645.77 0/1 99 59 29 30 0.51 intronic rs552693 TTC39B AU NM_001168341 exon17 c.95930+35G>C 0.317492 0.6716 0.261656 0.3197 0.6541 Uncertain 9_15447361_-->ACT 9 15447361 15447361 - ACT indel 827.73 1/1 45 17 0 17 1.0 intronic rs33970095 SNAPC3 AU NM_001039697 exon5 c.24365+119insACT 0.848043 0.751 Uncertain 9_15457801_G->C 9 15457801 15457801 G C snp 170.9 1/1 15 6 0 6 1.0 intronic rs9650683 SNAPC3 AU NM_001039697 exon8 c.35080-156G>C 0.808706 0.747 Uncertain 9_15457853_G->A 9 15457853 15457853 G A snp 863.77 1/1 63 29 0 29 1.0 intronic rs10756669 SNAPC3 AU NM_001039697 exon8 c.35080-104G>A 0.850839 0.747 Uncertain 9_15458080_-->T 9 15458080 15458080 - T indel 1913.73 ./1 99 101 0 101 1.0 intronic rs35960449 SNAPC3 AU NM_001039697 exon8 c.35188+15insT 0.463458 0.5556 0.5611 0.5517 Uncertain 9_15458080_-->TT 9 15458080 15458080 - TT indel 1913.73 ./1 99 101 0 101 1.0 intronic rs35960449 SNAPC3 AU NM_001039697 exon8 c.35188+15insTT 0.0511182 0.0298 0.1173 0.0840 Uncertain 9_15460002_G->C 9 15460002 15460002 G C snp 50.74 1/1 6 2 0 2 1.0 UTR3 rs4741506 SNAPC3 AU 0.842452 0.7421 Uncertain 9_15468121_T->A 9 15468121 15468121 T A snp 35.77 0/1 64 7 5 2 0.29 intronic rs2665509 PSIP1 AU NM_001128217 exon3 c.3110-506T>A 0.116813 0.0357 Uncertain 9_15468174_G->A 9 15468174 15468174 G A snp 485.77 0/1 99 41 22 19 0.46 intronic rs2795124 PSIP1 AU NM_001128217 exon3 c.3110-453G>A 0.115415 0.0278 Uncertain 9_15468415_CTT->- 9 15468415 15468417 CTT - indel 1683.73 0/1 99 86 47 39 0.45 intronic rs34331255 PSIP1 AU NM_001128217 exon3 c.3110-212_3110-210delCTT 0.622804 0.7292 0.679830 0.7365 0.7146 Uncertain 9_15468480_T->C 9 15468480 15468480 T C snp 836.77 1/1 63 23 0 23 1.0 intronic rs4741507 PSIP1 AU NM_001128217 exon3 c.3110-147T>C 0.634984 0.7649 Uncertain 9_15479893_A->T 9 15479893 15479893 A T snp 54.74 1/1 6 2 0 2 1.0 intronic rs2737831 PSIP1 AU NM_021144 exon5 c.8481+208A>T 0.749002 0.7718 Uncertain 9_15486958_A->T 9 15486958 15486958 A T snp 443.77 1/1 33 15 0 15 1.0 intronic rs2737828 PSIP1 AU NM_021144 exon7 c.15725+29A>T 0.905152 0.875 0.937221 0.9014 0.8736 Uncertain 9_15591372_T->A 9 15591372 15591372 T A snp 794.77 1/1 57 27 0 27 1.0 exonic rs4741510 CCDC171 AU nonsynonymous SNV NM_173550 exon5 c.T361A p.S121T 0.354034 0.5923 0.298262 0.4056 0.5974 0.33 T 0.000 P -0.922 T 0.001 T 0.002 T Pathogenic 9_15623163_A->G 9 15623163 15623163 A G snp 267.8 1/1 21 8 0 8 1.0 intronic rs7863088 CCDC171 AU NM_173550 exon7 c.59178-101A>G 0.551917 0.746 Uncertain 9_15623462_T->C 9 15623462 15623462 T C snp 1130.77 1/1 84 33 0 33 1.0 intronic rs405352 CCDC171 AU NM_173550 exon7 c.59325+51T>C 0.483626 0.5655 0.5007 0.7033 Uncertain 9_15623475_A->G 9 15623475 15623475 A G snp 67.77 0/1 30 4 1 3 0.75 intronic rs6474933 CCDC171 AU NM_173550 exon7 c.59325+64A>G 0.603834 0.7242 Uncertain 9_15678995_C->A 9 15678995 15678995 C A snp 827.77 1/1 60 29 0 29 1.0 intronic rs7037893 CCDC171 AU NM_173550 exon10 c.114808+101C>A 0.930112 0.998 Uncertain 9_15695418_G->A 9 15695418 15695418 G A snp 2294.77 1/1 99 78 0 78 1.0 intronic rs1355172 CCDC171 AU NM_173550 exon11 c.131249+83G>A 0.942292 0.998 Uncertain 9_15723547_T->C 9 15723547 15723547 T C snp 389.77 1/1 30 10 0 10 1.0 intronic rs10810436 CCDC171 AU NM_173550 exon13 c.159592-131T>C 0.385783 0.631 Uncertain 9_15729624_A->G 9 15729624 15729624 A G snp 878.77 0/1 99 70 32 38 0.54 exonic rs190391598 CCDC171 AU nonsynonymous SNV NM_173550 exon16 c.A1877G p.Y626C 0.000798722 0.004 0.0002 0.0031 0.06 T 1 D -0.998 T 0.181 T 0.074 T Pathogenic 9_15848983_C->T 9 15848983 15848983 C T snp 237.77 0/1 99 27 13 14 0.52 intronic rs72708834 CCDC171 AU NM_173550 exon23 c.284859+38C>T 0.0499201 0.1667 0.000771 0.0313 0.2156 Uncertain 9_15864506_C->G 9 15864506 15864506 C G snp 482.77 1/1 36 16 0 16 1.0 intronic rs770196 CCDC171 AU NM_173550 exon24 c.310443-10023C>G 0.900359 0.9821 Uncertain 9_15874826_T->C 9 15874826 15874826 T C snp 56.74 1/1 6 2 0 2 1.0 intronic rs2794633 CCDC171 AU NM_173550 exon24 c.310575+165T>C 0.760383 0.8234 Uncertain 9_15883263_G->A 9 15883263 15883263 G A snp 62.74 1/1 6 4 0 4 1.0 intronic rs809493 CCDC171 AU NM_173550 exon24 c.310575+8602G>A 0.724441 0.8194 Uncertain 9_15922137_A->G 9 15922137 15922137 A G snp 5229.77 1/1 99 201 1 200 1.0 intronic rs1328285 CCDC171 AU NM_173550 exon25 c.356334+1717A>G 0.884784 0.9494 0.8875 0.9592 1 T 0.0 P -0.977 T Uncertain 9_16215728_T->G 9 16215728 16215728 T G snp 610.77 0/1 99 40 18 22 0.55 intronic rs3818712 C9orf92 AU NM_001271829 exon3 c.11806-41T>G 0.157149 0.125 0.2204 0.1136 Uncertain 9_16253322_A->G 9 16253322 16253322 A G snp 135.03 1/1 12 4 0 4 1.0 upstream rs10733309 C9orf92 AU 0.559904 0.9365 Uncertain 9_16431230_A->G 9 16431230 16431230 A G snp 185.77 0/1 99 13 7 6 0.46 intronic rs9298764 BNC2 AU NM_017637 exon2 c.16566-4322A>G 0.702276 0.6944 Uncertain 9_16582890_-->AC 9 16582890 16582890 - AC indel 1506.73 ./1 99 46 6 40 0.87 intronic rs149223772 BNC2 AU NM_017637 exon4 c.163994-90insAC Uncertain 9_16582890_-->ACAC 9 16582890 16582890 - ACAC indel 1506.73 ./1 99 46 6 40 0.87 intronic rs35366915 BNC2 AU NM_017637 exon4 c.163994-90insACAC Uncertain 9_16664871_-->G 9 16664871 16664871 - G indel 507.73 1/1 36 12 0 12 1.0 intronic rs35822374 BNC2 AU NM_017637 exon5 c.308808-62923insG 0.990815 1 Uncertain 9_16685539_T->C 9 16685539 16685539 T C snp 6694.77 1/1 99 246 0 246 1.0 intronic rs7046068 BNC2 AU NM_017637 exon5 c.308808-42255T>C 0.867612 0.8909 0.8506 0.8873 Uncertain 9_16699287_C->T 9 16699287 16699287 C T snp 1250.77 0/1 99 115 60 55 0.48 intronic rs10738447 BNC2 AU NM_017637 exon5 c.308808-28507C>T 0.410543 0.3145 Uncertain 9_16699292_C->T 9 16699292 16699292 C T snp 1201.77 0/1 99 112 58 54 0.48 intronic rs10738448 BNC2 AU NM_017637 exon5 c.308808-28502C>T 0.410543 0.3155 Uncertain 9_16727698_G->A 9 16727698 16727698 G A snp 180.9 1/1 15 5 0 5 1.0 intronic rs1360285 BNC2 AU NM_017637 exon5 c.308808-96G>A 0.932109 0.9871 Uncertain 9_16738269_G->T 9 16738269 16738269 G T snp 734.77 1/1 57 27 1 26 0.96 intronic rs7858914 BNC2 AU NM_017637 exon6 c.319371-88G>T 0.873003 0.9097 Uncertain 9_16738307_A->C 9 16738307 16738307 A C snp 1304.77 1/1 96 48 0 48 1.0 intronic rs7858709 BNC2 AU NM_017637 exon6 c.319371-50A>C 0.873203 0.9097 0.908350 0.8840 0.8953 Uncertain 9_16738312_A->G 9 16738312 16738312 A G snp 1400.77 1/1 99 50 0 50 1.0 intronic rs7858712 BNC2 AU NM_017637 exon6 c.319371-45A>G 0.872604 0.9097 0.907658 0.8830 0.8953 Uncertain 9_16738339_A->- 9 16738339 16738339 A - indel 1664.73 1/1 99 58 0 58 1.0 intronic rs35475650 BNC2 AU NM_017637 exon6 c.319371-18delA 0.8859 0.8975 Uncertain 9_16738556_-->TTTT 9 16738556 16738556 - TTTT indel 1290.73 1/1 60 20 0 20 1.0 intronic rs386414535 BNC2 AU NM_017637 exon6 c.319497+73insTTTT 0.873003 0.9097 Uncertain 9_16870421_A->G 9 16870421 16870421 A G snp 215.84 1/1 18 7 0 7 1.0 intronic rs10810649 BNC2 AU NM_017637 exon7 c.451657-222A>G 0.764377 0.5228 Uncertain 9_16870472_A->G 9 16870472 16870472 A G snp 512.77 1/1 39 15 0 15 1.0 intronic rs71513271 BNC2 AU NM_017637 exon7 c.451657-171A>G 0.254792 0.1706 Uncertain 9_17135115_C->T 9 17135115 17135115 C T snp 763.77 0/1 99 65 33 32 0.49 exonic rs41306071 CNTLN AU synonymous SNV NM_001114395 exon1 c.C52T p.L18L 0.13139 0.1548 0.217593 0.2378 0.2026 ID=COSM3763849;OCCURENCE=1(large_intestine) Uncertain 9_17135434_G->C 9 17135434 17135434 G C snp 2899.77 1/1 99 106 0 106 1.0 intronic rs12003380 CNTLN AU NM_001286984 exon1 c.360+11G>C 0.498003 0.5823 0.473550 0.5016 0.6177 Uncertain 9_17135443_T->C 9 17135443 17135443 T C snp 1095.77 0/1 99 92 45 47 0.51 intronic rs111496959 CNTLN AU NM_001286984 exon1 c.360+20T>C 0.145567 0.1548 0.214960 0.2534 0.2082 Uncertain 9_17143511_-->G 9 17143511 17143511 - G indel 1044.73 1/1 72 24 0 24 1.0 intronic rs36086880 CNTLN AU NM_001286985 exon2 c.8311+137insG 0.358227 0.3442 Uncertain 9_17235643_T->- 9 17235643 17235643 T - indel 842.73 1/1 75 26 0 26 1.0 intronic rs397708736 CNTLN AU NM_017738 exon4 c.100592-12delT 0.913339 1 0.808677 0.8147 0.9998 Uncertain 9_17273731_A->G 9 17273731 17273731 A G snp 439.77 0/1 99 43 23 20 0.47 exonic rs3808795 CNTLN AU nonsynonymous SNV NM_001114395 exon6 c.A850G p.T284A 0.334265 0.3502 0.284240 0.2989 0.3127 0.000 P -0.906 T 0.0 T 0.0 T Pathogenic 9_17273754_A->C 9 17273754 17273754 A C snp 625.77 0/1 99 67 39 28 0.42 exonic rs3808794 CNTLN AU nonsynonymous SNV NM_001114395 exon6 c.A873C p.E291D 0.0888578 0.2609 0.026848 0.0366 0.2334 0.12 T 0.004 P -0.964 T 0.012 T 0.017 T Pathogenic 9_17273926_C->G 9 17273926 17273926 C G snp 482.77 0/1 99 48 25 23 0.48 intronic rs12379655 CNTLN AU NM_017738 exon6 c.138801+62C>G 0.334265 0.3512 Uncertain 9_17309336_T->C 9 17309336 17309336 T C snp 270.77 0/1 99 16 7 9 0.56 intronic rs10756860 CNTLN AU NM_017738 exon8 c.174187+86T>C 0.430112 0.4821 Uncertain 9_17309374_T->A 9 17309374 17309374 T A snp 185.9 1/1 15 6 0 6 1.0 intronic rs6475126 CNTLN AU NM_017738 exon8 c.174187+124T>A 0.756589 0.8284 Uncertain 9_17332485_TT->- 9 17332485 17332486 TT - indel 239.75 1/1 24 11 1 10 0.91 intronic rs3084508 CNTLN AU NM_017738 exon10 c.197539-117_197539-116delTT 0.56849 0.7371 Uncertain 9_17340747_A->G 9 17340747 17340747 A G snp 162.77 0/1 99 18 11 7 0.39 intronic rs3808783 CNTLN AU NM_017738 exon11 c.205761-77A>G 0.0752796 0.2579 Uncertain 9_17342383_C->T 9 17342383 17342383 C T snp 3040.77 1/1 99 125 0 125 1.0 exonic rs1442527 CNTLN AU synonymous SNV NM_017738 exon12 c.C1827T p.D609D 0.949481 1 0.951479 0.9865 1 Uncertain 9_17342517_A->G 9 17342517 17342517 A G snp 301.77 0/1 99 18 9 9 0.5 intronic rs10756869 CNTLN AU NM_017738 exon12 c.207379+75A>G 0.427316 0.4931 Uncertain 9_17366568_A->T 9 17366568 17366568 A T snp 248.8 1/1 21 8 0 8 1.0 intronic rs4961548 CNTLN AU NM_017738 exon13 c.231551-46A>T 0.548123 0.7391 0.577628 0.5762 0.7301 Uncertain 9_17394536_C->T 9 17394536 17394536 C T snp 104.28 1/1 9 6 0 6 1.0 exonic rs7035276 CNTLN AU nonsynonymous SNV NM_017738 exon15 c.C2084T p.T695I 0.780551 0.8313 0.820870 0.8284 0.8115 0.27 T 0.0 P -1.041 T 0.0 T 0.0 T Pathogenic 9_17394996_T->C 9 17394996 17394996 T C snp 5300.77 1/1 99 190 0 190 1.0 exonic rs3739489 CNTLN AU synonymous SNV NM_017738 exon15 c.T2544C p.H848H 0.841054 0.8323 0.873200 0.8799 0.8155 Uncertain 9_17395108_C->T 9 17395108 17395108 C T snp 2641.77 1/1 99 87 0 87 1.0 intronic rs3739488 CNTLN AU NM_017738 exon15 c.260004+41C>T 0.781949 0.8313 0.822275 0.8306 0.8128 Uncertain 9_17409366_G->A 9 17409366 17409366 G A snp 1706.77 1/1 82 71 2 69 0.97 exonic rs2780211 CNTLN AU synonymous SNV NM_017738 exon16 c.G2691A p.T897T 0.838858 0.8304 0.869975 0.8747 0.8148 Uncertain 9_17409556_C->T 9 17409556 17409556 C T snp 180.9 1/1 15 6 0 6 1.0 intronic rs2584549 CNTLN AU NM_017738 exon16 c.274408+85C>T 0.777955 0.8294 Uncertain 9_17464402_G->C 9 17464402 17464402 G C snp 180.9 1/1 15 5 0 5 1.0 intronic rs1442532 CNTLN AU NM_017738 exon21 c.329431-92G>C 0.939097 0.9127 Uncertain 9_17579190_C->G 9 17579190 17579190 C G snp 2772.77 1/1 99 105 0 105 1.0 UTR5 rs4961573 SH3GL2 AU 1 1 0.999185 0.9999 1 Uncertain 9_17579198_T->G 9 17579198 17579198 T G snp 3087.77 1/1 99 120 1 119 0.99 UTR5 rs4961574 SH3GL2 AU 1 1 0.999920 0.9999 1 Uncertain 9_17579370_T->C 9 17579370 17579370 T C snp 1984.77 1/1 99 74 0 74 1.0 intronic rs3739487 SH3GL2 AU NM_003026 exon1 c.45+85T>C 0.596046 0.9623 Uncertain 9_17747279_G->A 9 17747279 17747279 G A snp 356.78 1/1 27 12 0 12 1.0 intronic rs2031456 SH3GL2 AU NM_003026 exon2 c.167892+147G>A 0.692492 0.8294 Uncertain 9_17761379_C->T 9 17761379 17761379 C T snp 3820.77 1/1 99 132 0 132 1.0 intronic rs1886589 SH3GL2 AU NM_003026 exon3 c.182194-55C>T 0.545128 0.879 0.461673 Uncertain 9_17775367_C->T 9 17775367 17775367 C T snp 2059.77 1/1 99 79 0 79 1.0 intronic rs2209429 SH3GL2 AU NM_003026 exon4 c.207138-11011C>T 0.807308 0.8968 Uncertain 9_17781818_C->G 9 17781818 17781818 C G snp 4533.77 1/1 99 161 0 161 1.0 intronic rs2224955 SH3GL2 AU NM_003026 exon4 c.207138-4560C>G 0.511382 0.8254 Uncertain 9_17781935_G->C 9 17781935 17781935 G C snp 1928.77 1/1 99 62 0 62 1.0 intronic rs2209431 SH3GL2 AU NM_003026 exon4 c.207138-4443G>C 0.511182 0.8244 Uncertain 9_18636050_G->T 9 18636050 18636050 G T snp 1170.77 0/1 99 87 42 45 0.52 intronic rs13287455 ADAMTSL1 AU NM_052866 exon6 c.161785+35G>T 0.0569089 0.126 0.038828 0.0398 0.1215 Uncertain 9_18657558_A->G 9 18657558 18657558 A G snp 726.77 1/1 54 21 0 21 1.0 intronic rs776776 ADAMTSL1 AU NM_052866 exon8 c.183406-78A>G 0.621805 0.9008 Uncertain 9_18717903_G->A 9 18717903 18717903 G A snp 438.77 1/1 33 13 0 13 1.0 intronic rs530120 ADAMTSL1 AU NM_001040272 exon15 c.247303-3630G>A 0.796326 0.8571 Uncertain 9_18718086_G->T 9 18718086 18718086 G T snp 3137.77 1/1 99 106 0 106 1.0 intronic rs4977338 ADAMTSL1 AU NM_001040272 exon15 c.247303-3447G>T 0.209265 0.3423 Uncertain 9_18718114_A->C 9 18718114 18718114 A C snp 2439.77 1/1 99 83 0 83 1.0 intronic rs4977339 ADAMTSL1 AU NM_001040272 exon15 c.247303-3419A>C 0.575879 0.6558 Uncertain 9_18718139_C->G 9 18718139 18718139 C G snp 2233.77 1/1 99 70 0 70 1.0 intronic rs532101 ADAMTSL1 AU NM_001040272 exon15 c.247303-3394C>G 0.795527 0.8581 Uncertain 9_18718186_A->G 9 18718186 18718186 A G snp 1025.77 1/1 78 32 0 32 1.0 intronic rs1821376 ADAMTSL1 AU NM_001040272 exon15 c.247303-3347A>G 0.575879 0.6558 Uncertain 9_18753529_A->G 9 18753529 18753529 A G snp 385.77 0/1 99 21 9 12 0.57 intronic rs56778727 ADAMTSL1 AU NM_001040272 exon16 c.279276+23A>G 0.217452 0.2827 0.168616 0.2207 0.3169 Uncertain 9_18770943_C->T 9 18770943 18770943 C T snp 189.8 0/1 21 8 1 7 0.88 intronic rs16937047 ADAMTSL1 AU NM_001040272 exon17 c.296549+164C>T 0.153355 0.2778 Uncertain 9_18775810_C->A 9 18775810 18775810 C A snp 2482.77 0/1 99 249 139 110 0.44 exonic rs934472 ADAMTSL1 AU nonsynonymous SNV NM_001040272 exon18 c.C2467A p.L823I 0.435703 0.4603 0.449698 0.5014 0.4869 0.23 T 0.0 P -0.955 T 0.0 T 0.001 T ID=COSM3763850;OCCURENCE=1(large_intestine),1(urinary_tract) Pathogenic 9_18776840_A->C 9 18776840 18776840 A C snp 3657.77 1/1 99 127 0 127 1.0 exonic rs1549986 ADAMTSL1 AU synonymous SNV NM_001040272 exon19 c.A2613C p.I871I 0.972045 1 0.937773 0.9442 1 ID=COSM3763851;OCCURENCE=1(large_intestine) Uncertain 9_18777368_T->C 9 18777368 18777368 T C snp 6837.77 1/1 99 248 0 248 1.0 exonic rs7033684 ADAMTSL1 AU synonymous SNV NM_001040272 exon19 c.T3141C p.S1047S 0.689297 0.7054 0.714321 0.7191 0.7250 Uncertain 9_18817246_A->C 9 18817246 18817246 A C snp 3674.77 1/1 99 130 0 130 1.0 intronic rs1433809 ADAMTSL1 AU NM_001040272 exon21 c.343005+11A>C 0.901358 0.9474 0.900466 0.9005 0.9525 Uncertain 9_18817372_C->T 9 18817372 18817372 C T snp 767.77 1/1 57 22 0 22 1.0 intronic rs7873880 ADAMTSL1 AU NM_001040272 exon21 c.343005+137C>T 0.619209 0.4534 Uncertain 9_18826262_T->- 9 18826262 18826262 T - indel 1882.73 1/1 99 88 6 82 0.93 intronic rs35525189 ADAMTSL1 AU NM_001040272 exon22 c.352051-19delT 0.6457 0.5950 Uncertain 9_18826500_T->C 9 18826500 18826500 T C snp 1202.77 1/1 87 40 0 40 1.0 intronic rs934469 ADAMTSL1 AU NM_001040272 exon22 c.352231+39T>C 0.576278 0.4702 0.666884 0.6706 0.5177 Uncertain 9_18830087_G->A 9 18830087 18830087 G A snp 617.77 0/1 99 45 23 22 0.49 intronic rs7026429 ADAMTSL1 AU NM_001040272 exon23 c.355745+112G>A 0.639377 0.4435 Uncertain 9_18887753_C->A 9 18887753 18887753 C A snp 1215.77 1/1 87 40 0 40 1.0 intronic rs731370 ADAMTSL1 AU NM_001040272 exon24 c.413598-75C>A 0.729433 0.6508 Uncertain 9_18887908_G->C 9 18887908 18887908 G C snp 704.77 0/1 99 72 37 35 0.49 exonic rs75551645 ADAMTSL1 AU synonymous SNV NM_001040272 exon24 c.G4329C p.L1443L 0.0493211 0.127 0.021627 0.0429 0.1158 Uncertain 9_18889544_A->T 9 18889544 18889544 A T snp 2192.77 1/1 99 85 0 85 1.0 intronic rs10963819 ADAMTSL1 AU NM_001040272 exon25 c.415335-21A>T 0.623003 0.6458 0.578796 0.5597 0.6680 Uncertain 9_18890446_A->G 9 18890446 18890446 A G snp 2719.77 1/1 99 89 0 89 1.0 intronic rs7026374 ADAMTSL1 AU NM_001040272 exon25 c.415516+700A>G 0.749002 0.6567 Uncertain 9_18907049_-->T 9 18907049 18907049 - T indel 4994.73 1/1 99 135 0 135 1.0 intronic rs397717662 ADAMTSL1 AU NM_001040272 exon28 c.432680+139insT 0.772165 0.6022 0.7165 0.6553 Uncertain 9_18907122_T->C 9 18907122 18907122 T C snp 1359.77 1/1 99 39 0 39 1.0 intronic rs1327506 ADAMTSL1 AU NM_001040272 exon28 c.432680+212T>C 0.773363 0.6012 Uncertain 9_18928039_A->G 9 18928039 18928039 A G snp 759.77 0/1 99 75 44 31 0.41 UTR3 rs1052448 SAXO1 AU 0.123003 0.2292 0.119637 0.1608 0.2211 Uncertain 9_18950787_G->A 9 18950787 18950787 G A snp 2971.77 1/1 99 117 1 116 0.99 exonic rs6475273 SAXO1 AU nonsynonymous SNV NM_153707 exon2 c.C187T p.P63S 0.760184 0.5685 0.818930 0.7581 0.5582 0.89 T 0.000 P -0.983 T 0.0 T 0.001 T Pathogenic 9_18950895_T->C 9 18950895 18950895 T C snp 900.77 1/1 66 28 0 28 1.0 exonic rs7021572 SAXO1 AU nonsynonymous SNV NM_153707 exon2 c.A79G p.K27E 0.478035 0.5169 0.535676 0.6145 0.5133 0.18 T 1.000 P -1.007 T 0.084 T 0.069 T ID=COSM3763852;OCCURENCE=1(large_intestine) Pathogenic 9_18950980_A->T 9 18950980 18950980 A T snp 221.84 1/1 18 7 0 7 1.0 intronic rs6475274 SAXO1 AU NM_153707 exon3 c.22886+45A>T 0.772564 0.5685 0.832693 0.7613 0.5573 Uncertain 9_19032930_G->A 9 19032930 19032930 G A snp 1753.77 0/1 99 162 86 76 0.47 UTR5 rs116967104 SAXO1 AU 0.00998403 0.0446 0.0045 0.0530 Uncertain 9_19033058_C->A 9 19033058 19033058 C A snp 399.77 1/1 30 14 0 14 1.0 UTR5 rs10963922 SAXO1 AU 0.366613 0.4931 Uncertain 9_19063108_T->C 9 19063108 19063108 T C snp 1207.77 1/1 87 42 0 42 1.0 exonic rs13302748 HAUS6 AU synonymous SNV NM_001270890 exon14 c.A1422G p.L474L 0.352037 0.38 0.369097 0.4218 0.3555 Uncertain 9_19063929_T->G 9 19063929 19063929 T G snp 261.8 1/1 21 7 0 7 1.0 intronic rs10757026 HAUS6 AU NM_001270890 exon5 c.7238+351T>G 0.810304 0.6171 Uncertain 9_19076667_C->T 9 19076667 19076667 C T snp 468.77 0/1 99 30 12 18 0.6 exonic rs185819380 HAUS6 AU synonymous SNV NM_001270890 exon11 c.G1122A p.S374S 0.000798722 0.004 0.0005 0.0064 Uncertain 9_19076673_G->C 9 19076673 19076673 G C snp 948.77 1/1 69 35 0 35 1.0 exonic rs13286328 HAUS6 AU synonymous SNV NM_001270890 exon11 c.C1116G p.P372P 0.361022 0.3681 0.381209 0.4232 0.3513 Uncertain 9_19116543_G->A 9 19116543 19116543 G A snp 2286.77 0/1 99 226 127 99 0.44 exonic rs2229536 PLIN2 AU synonymous SNV NM_001122 exon8 c.C1017T p.I339I 0.0247604 0.042211 0.0408 0.0061 ID=COSM3763853;OCCURENCE=1(large_intestine) Uncertain 9_19119674_A->G 9 19119674 19119674 A G snp 299.77 0/1 99 28 15 13 0.46 exonic rs35568725 PLIN2 AU nonsynonymous SNV NM_001122 exon6 c.T751C p.S251P 0.0241613 0.040981 0.0409 0.0061 0.27 T 1 D -1.101 T 0.107 T 0.202 T ID=COSM3763854;OCCURENCE=1(large_intestine) Pathogenic 9_19120752_G->A 9 19120752 19120752 G A snp 143.77 0/1 99 11 6 5 0.45 intronic rs10963971 PLIN2 AU NM_001122 exon4 c.4632-125G>A 0.189297 0.0466 Uncertain 9_19123745_A->G 9 19123745 19123745 A G snp 524.77 0/1 99 54 32 22 0.41 intronic rs10963972 PLIN2 AU NM_001122 exon5 c.7400+100A>G 0.520767 0.4444 Uncertain 9_19126476_C->T 9 19126476 19126476 C T snp 83.77 0/1 69 5 2 3 0.6 intronic rs3802335 PLIN2 AU NM_001122 exon7 c.10201+30C>T 0.679513 0.5268 0.753645 0.7452 0.5027 Uncertain 9_19295941_A->G 9 19295941 19295941 A G snp 1131.77 1/1 84 34 0 34 1.0 intronic rs10757051 DENND4C AU NM_017925 exon6 c.19833-64A>G 0.919329 1 Uncertain 9_19299362_T->C 9 19299362 19299362 T C snp 74.77 0/1 99 11 6 5 0.45 intronic rs10738535 DENND4C AU NM_017925 exon8 c.23113+77T>C 0.498602 0.5883 Uncertain 9_19336169_-->TA 9 19336169 19336169 - TA indel 153.73 0/1 99 9 4 5 0.56 intronic rs10683145 DENND4C AU NM_017925 exon19 c.60095-98insTA 0.430511 0.4276 Uncertain 9_19376408_A->G 9 19376408 19376408 A G snp 2913.77 1/1 99 113 0 113 1.0 intronic rs2277151 RPS6 AU NM_001010 exon1 c.96+22A>G 0.328075 0.5962 0.200523 0.2691 0.6163 Uncertain 9_19434980_C->T 9 19434980 19434980 C T snp 1384.77 0/1 99 88 35 53 0.6 exonic rs10964136 ACER2 AU nonsynonymous SNV NM_001010887 exon4 c.C401T p.A134V 0.0317492 0.126 0.011226 0.0221 0.1559 0.939 D -1.009 T 0.006 T 0.002 T Pathogenic 9_19516090_C->G 9 19516090 19516090 C G snp 554.77 0/1 99 51 28 23 0.45 UTR3 rs3739481 SLC24A2 AU 0.378994 0.5228 Uncertain 9_19516280_G->C 9 19516280 19516280 G C snp 1768.77 0/1 99 130 55 75 0.58 exonic rs3739480 SLC24A2 AU synonymous SNV NM_020344 exon10 c.C1857G p.L619L 0.0834665 0.1171 0.049285 0.0301 0.1207 Uncertain 9_19550308_A->T 9 19550308 19550308 A T snp 3022.77 1/1 99 103 1 102 0.99 intronic rs4977555 SLC24A2 AU NM_001193288 exon4 c.34116+42A>T 0.888778 1 0.821851 0.8512 0.9995 Uncertain 9_19576815_C->T 9 19576815 19576815 C T snp 399.77 1/1 30 13 0 13 1.0 intronic rs2247818 SLC24A2 AU NM_001193288 exon6 c.60771-106C>T 0.697684 0.6438 Uncertain 9_19576817_GT->- 9 19576817 19576818 GT - indel 592.73 1/1 42 14 0 14 1.0 intronic rs3085594 SLC24A2 AU NM_001193288 exon6 c.60771-104_60771-103delGT 0.944888 1 Uncertain 9_19576949_T->G 9 19576949 19576949 T G snp 3852.77 1/1 99 132 0 132 1.0 exonic rs2383101 SLC24A2 AU synonymous SNV NM_020344 exon5 c.A1201C p.R401R 0.865615 1 0.787329 0.8410 0.9997 Uncertain 9_19619509_C->T 9 19619509 19619509 C T snp 2780.77 1/1 99 95 0 95 1.0 intronic rs1885220 SLC24A2 AU NM_001193288 exon7 c.103431-72C>T 0.761182 0.8562 Uncertain 9_19622072_A->G 9 19622072 19622072 A G snp 580.77 1/1 45 18 0 18 1.0 intronic rs4977307 SLC24A2 AU NM_001193288 exon8 c.106108-186A>G 0.775958 0.8681 Uncertain 9_19622268_T->C 9 19622268 19622268 T C snp 2141.77 1/1 99 83 0 83 1.0 exonic rs4977308 SLC24A2 AU synonymous SNV NM_020344 exon2 c.A960G p.P320P 0.78155 0.8671 0.732816 0.7604 0.8717 Uncertain 9_19786217_G->A 9 19786217 19786217 G A snp 6850.77 1/1 99 239 0 239 1.0 exonic rs1536517 SLC24A2 AU synonymous SNV NM_020344 exon1 c.C648T p.I216I 0.151158 0.4077 0.061818 0.0656 0.4209 Uncertain 9_19895876_G->A 9 19895876 19895876 G A snp 916.77 0/1 99 64 23 41 0.64 intergenic rs3802332 SLC24A2 AU 0.0171725 0.0575 ID=COSN168484;OCCURENCE=1(endometrium),1(large_intestine) Uncertain 9_20354693_A->G 9 20354693 20354693 A G snp 661.77 0/1 99 67 40 27 0.4 intronic rs2301549 MLLT3 AU NM_004529 exon3 c.8365-112A>G 0.338458 0.2361 Uncertain 9_20354796_A->G 9 20354796 20354796 A G snp 1362.77 0/1 99 131 67 64 0.49 intronic rs2301550 MLLT3 AU NM_004529 exon3 c.8365-9A>G 0.339058 0.2381 0.258191 0.1427 0.2290 Uncertain 9_20411354_G->A 9 20411354 20411354 G A snp 179.77 0/1 99 28 19 9 0.32 intronic rs16938058 MLLT3 AU NM_004529 exon7 c.67278-2364G>A 0.11901 0.1796 Uncertain 9_20448059_T->- 9 20448059 20448059 T - indel 1017.73 1/1 81 44 3 41 0.93 intronic rs111349071 MLLT3 AU NM_004529 exon8 c.101680-61delT 0.183906 0.1687 Uncertain 9_20502092_G->A 9 20502092 20502092 G A snp 54.74 1/1 6 2 0 2 1.0 intronic MLLT3 AU NM_004529 exon9 c.110344+45308G>A Uncertain 9_20620575_G->A 9 20620575 20620575 G A snp 3597.77 1/1 99 118 0 118 1.0 intronic rs2073855 MLLT3 AU NM_004529 exon10 c.274212-77G>A 0.438698 0.4454 Uncertain 9_20621901_-->GT 9 20621901 20621901 - GT indel 1594.73 0/1 99 118 44 74 0.63 intronic rs142328824 MLLT3 AU NM_001286691 exon11 c.275546-85insGT Uncertain 9_20720599_A->C 9 20720599 20720599 A C snp 2231.77 1/1 99 78 0 78 1.0 intronic rs4977898 FOCAD AU NM_017794 exon6 c.5181+66A>C 0.889177 0.7054 Uncertain 9_20740355_-->T 9 20740355 20740355 - T indel 78.73 0/1 65 16 3 13 0.81 intronic rs397706359 FOCAD AU NM_017794 exon7 c.24987+16insT 0.390775 0.501 0.3156 0.4874 Uncertain 9_20765097_A->G 9 20765097 20765097 A G snp 2110.77 0/1 99 146 65 81 0.55 intronic rs7871811 FOCAD AU NM_017794 exon9 c.49720+25A>G 0.645567 0.5605 0.618714 0.6369 0.5638 Uncertain 9_20769987_G->T 9 20769987 20769987 G T snp 306.77 0/1 99 20 7 13 0.65 intronic rs7860490 FOCAD AU NM_017794 exon10 c.54678-43G>T 0.322284 0.4861 0.193486 0.2672 0.4758 Uncertain 9_20778631_A->G 9 20778631 20778631 A G snp 1853.77 0/1 99 137 65 72 0.53 intronic rs7875153 FOCAD AU NM_017794 exon11 c.63327-48A>G 0.822684 0.755 0.832000 0.8503 0.7688 Uncertain 9_20781979_C->A 9 20781979 20781979 C A snp 288.77 0/1 99 24 13 11 0.46 intronic rs6475473 FOCAD AU NM_017794 exon12 c.66576+51C>A 0.423722 0.5119 0.339689 0.3399 0.5191 Uncertain 9_20862506_G->A 9 20862506 20862506 G A snp 667.77 0/1 99 72 46 26 0.36 intronic rs4977779 FOCAD AU NM_017794 exon18 c.147224-70G>A 0.354233 0.4683 Uncertain 9_20862515_A->C 9 20862515 20862515 A C snp 843.77 0/1 99 92 58 34 0.37 intronic rs4977780 FOCAD AU NM_017794 exon18 c.147224-61A>C 0.543131 0.6696 Uncertain 9_20866974_C->G 9 20866974 20866974 C G snp 4107.77 1/1 99 159 0 159 1.0 exonic rs7875872 FOCAD AU nonsynonymous SNV NM_017794 exon20 c.C2153G p.T718S 1 1 1 1 1 T 0.0 P -0.939 T 0.0 T 0.0 T Pathogenic 9_20882117_T->C 9 20882117 20882117 T C snp 208.77 0/1 99 24 15 9 0.38 intronic rs7026225 FOCAD AU NM_017794 exon22 c.166703+62T>C 0.814297 0.7679 Uncertain 9_20885240_G->A 9 20885240 20885240 G A snp 1867.77 0/1 99 141 61 80 0.57 intronic rs2383156 FOCAD AU NM_017794 exon23 c.169877+11G>A 0.603834 0.5308 0.570275 0.5889 0.5100 Uncertain 9_20916828_A->C 9 20916828 20916828 A C snp 478.77 0/1 99 46 26 20 0.43 intronic rs4977812 FOCAD AU NM_017794 exon26 c.201539-63A>C 0.373003 0.4762 0.311651 Uncertain 9_20923518_C->G 9 20923518 20923518 C G snp 139.03 1/1 12 4 0 4 1.0 intronic rs7044425 FOCAD AU NM_017794 exon27 c.208306-140C>G 0.735823 0.9405 Uncertain 9_20923579_C->T 9 20923579 20923579 C T snp 702.77 1/1 51 24 0 24 1.0 intronic rs7044452 FOCAD AU NM_017794 exon27 c.208306-79C>T 0.714657 0.9395 Uncertain 9_20923618_A->G 9 20923618 20923618 A G snp 410.77 0/1 99 44 25 19 0.43 intronic rs7044447 FOCAD AU NM_017794 exon27 c.208306-40A>G 0.361222 0.4722 0.296479 0.3428 0.4694 Uncertain 9_20923696_C->G 9 20923696 20923696 C G snp 771.77 0/1 99 85 48 37 0.44 exonic rs117748510 FOCAD AU nonsynonymous SNV NM_017794 exon27 c.C2890G p.L964V 0.0113818 0.0198 0.000538 0.0060 0.0305 0.05 T 1.000 D -0.718 T 0.911 T 0.51 D Pathogenic 9_20946952_T->C 9 20946952 20946952 T C snp 442.77 0/1 99 31 17 14 0.45 intronic rs7851042 FOCAD AU NM_017794 exon32 c.231467+133T>C 0.391174 0.4702 Uncertain 9_20947021_G->A 9 20947021 20947021 G A snp 93.28 1/1 9 3 0 3 1.0 intronic rs7867929 FOCAD AU NM_017794 exon32 c.231467+202G>A 0.978235 1 Uncertain 9_20948235_C->T 9 20948235 20948235 C T snp 59.77 0/1 88 26 19 7 0.27 intronic FOCAD AU NM_017794 exon33 c.232917-34C>T 0.0002 0.0001 Uncertain 9_20949792_C->T 9 20949792 20949792 C T snp 123.78 0/1 27 5 1 4 0.8 intronic rs548454731 FOCAD AU NM_017794 exon35 c.234322+118C>T 0.00119808 0.002 Uncertain 9_20953049_A->G 9 20953049 20953049 A G snp 2902.77 0/1 99 237 116 121 0.51 exonic rs3206852 FOCAD AU nonsynonymous SNV NM_017794 exon37 c.A4117G p.T1373A 0.335663 0.4355 0.371675 0.3825 0.4479 0.3 T 0.004 P -0.911 T 0.0 T 0.001 T Pathogenic 9_20976298_C->T 9 20976298 20976298 C T snp 644.77 0/1 99 33 14 19 0.58 intronic rs10119918 FOCAD AU NM_017794 exon38 c.261066-120C>T 0.389976 0.4702 Uncertain 9_20978306_A->G 9 20978306 20978306 A G snp 1001.77 0/1 99 64 25 39 0.61 intronic rs10811445 FOCAD AU NM_017794 exon39 c.262985-31A>G 0.32528 0.4325 0.356835 0.4583 0.5144 Uncertain 9_20978312_A->G 9 20978312 20978312 A G snp 1980.77 1/1 99 67 0 67 1.0 intronic rs4977616 FOCAD AU NM_017794 exon39 c.262985-25A>G 0.971845 1 0.970936 0.9919 1 Uncertain 9_20982328_T->G 9 20982328 20982328 T G snp 1727.77 0/1 99 158 83 75 0.47 intronic rs10964782 FOCAD AU NM_017794 exon41 c.267003-27T>G 0.329273 0.4514 0.356682 0.3710 0.4619 Uncertain 9_20982503_T->G 9 20982503 20982503 T G snp 3181.78 1/1 99 106 0 106 1.0 intronic rs4304410 FOCAD AU NM_017794 exon41 c.267093+58T>G 0.999201 1 Uncertain 9_20988426_A->G 9 20988426 20988426 A G snp 6162.77 1/1 99 223 0 223 1.0 exonic rs4977881 FOCAD AU nonsynonymous SNV NM_017794 exon43 c.A5002G p.K1668E 0.76857 0.9385 0.742965 0.7424 0.9410 1 T 0.000 P -0.972 T 0.0 T 0.0 T Pathogenic 9_20993461_T->G 9 20993461 20993461 T G snp 470.77 0/1 99 27 13 14 0.52 intronic rs4497056 FOCAD AU NM_017794 exon45 c.277975+134T>G 0.371206 0.4821 Uncertain 9_20995373_A->C 9 20995373 20995373 A C snp 84.28 1/1 9 3 0 3 1.0 intronic rs72705903 FOCAD AU NM_017794 exon46 c.280202-181A>C Uncertain 9_21007935_A->G 9 21007935 21007935 A G snp 174.9 1/1 15 6 0 6 1.0 intronic rs7041474 HACD4 AU NM_001010915 exon2 c.984-84A>G 0.749601 0.9563 Uncertain 9_21026540_G->T 9 21026540 21026540 G T snp 516.77 0/1 99 43 22 21 0.49 intronic rs2275889 HACD4 AU NM_001010915 exon5 c.19559-54G>T 0.563698 0.503 Uncertain 9_21026800_G->A 9 21026800 21026800 G A snp 261.77 0/1 99 42 31 11 0.26 intronic rs2275890 HACD4 AU NM_001010915 exon5 c.19687+78G>A 0.563498 0.498 Uncertain 9_21029330_T->C 9 21029330 21029330 T C snp 612.77 0/1 99 38 14 24 0.63 exonic rs2298260 HACD4 AU nonsynonymous SNV NM_001010915 exon2 c.A106G p.T36A 0.34405 0.503 0.268683 0.3196 0.5031 0.5 T 0.873 P -0.936 T 0.003 T 0.005 T Pathogenic 9_21077716_G->A 9 21077716 21077716 G A snp 1342.77 0/1 99 102 50 52 0.51 exonic rs1051922 IFNB1 AU synonymous SNV NM_002176 exon1 c.C153T p.Y51Y 0.328275 0.3204 0.343688 0.3300 0.3404 ID=COSM3982803;OCCURENCE=1(thyroid) Uncertain 9_21409037_A->- 9 21409037 21409037 A - indel 182.73 0/1 99 19 10 9 0.47 upstream rs28751295 IFNA8 AU 0.228834 0.2004 Uncertain 9_21409094_C->T 9 21409094 21409094 C T snp 1014.77 0/1 99 80 40 40 0.5 upstream rs28383785 IFNA8 AU 0.0605032 0.2143 Uncertain 9_21409901_G->A 9 21409901 21409901 G A snp 364.77 0/1 99 37 22 15 0.41 UTR3 rs10964982 IFNA8 AU 0.114417 0.1915 Uncertain 9_21802922_C->G 9 21802922 21802922 C G snp 228.77 0/1 99 13 6 7 0.54 intronic rs117769854 MTAP AD NM_002451 exon1 c.33+142C>G 0.0441294 0.0982 0.0732 0.1875 Uncertain 9_21815589_-->AAA 9 21815589 21815589 - AAA indel 194.75 1/1 23 12 0 12 1.0 intronic rs386414650 MTAP AD NM_002451 exon2 c.12771+71insAAA 0.453075 0.4474 0.3976 0.3540 Uncertain 9_21838145_A->G 9 21838145 21838145 A G snp 288.77 0/1 99 25 15 10 0.4 intronic rs7868783 MTAP AD NM_002451 exon5 c.35262+136A>G 0.342252 0.4514 Uncertain 9_21854740_C->T 9 21854740 21854740 C T snp 1652.77 0/1 99 124 55 69 0.56 exonic rs10965163 MTAP AD synonymous SNV NM_002451 exon6 c.C561T p.R187R 0.0407348 0.0377 0.066200 0.0628 0.0192 Uncertain 9_21861903_T->- 9 21861903 21861903 T - indel 1253.73 0/1 99 108 52 56 0.52 intronic rs11356405 MTAP AD NM_002451 exon8 c.59227-71delT Uncertain 9_21930900_G->T 9 21930900 21930900 G T snp 308.77 0/1 99 32 20 12 0.38 intergenic rs76193672 MTAP AD 0.0181709 0.0337 Uncertain 9_21968159_G->A 9 21968159 21968159 G A snp 671.77 0/1 99 47 14 33 0.7 UTR3 rs3088440 CDKN2A AU,AD 0.169928 0.131 0.110162 ID=COSM14252;OCCURENCE=1(oesophagus) Uncertain 9_21968199_C->G 9 21968199 21968199 C G snp 1284.77 1/1 90 49 0 49 1.0 UTR3 rs11515 CDKN2A AU,AD 0.902157 0.9812 0.849147 0.8802 0.9768 ID=COSM14251;OCCURENCE=1(oesophagus) Uncertain 9_22029445_G->A 9 22029445 22029445 G A snp 5687.77 1/1 99 207 1 206 1.0 ncRNA_exonic rs10965215 CDKN2B-AS1 AU 0.540735 0.7014 0.447855 0.5322 0.6687 Uncertain 9_22447655_T->A 9 22447655 22447655 T A snp 561.77 0/1 99 54 29 25 0.46 exonic rs558612 DMRTA1 AU synonymous SNV NM_022160 exon1 c.T591A p.G197G 0.311701 0.2331 0.299007 0.3000 0.2083 Uncertain 9_22451031_G->A 9 22451031 22451031 G A snp 575.77 0/1 99 49 25 24 0.49 intronic rs563802 DMRTA1 AU NM_022160 exon2 c.3998-31G>A 0.318091 0.2282 0.293019 0.2358 0.1965 Uncertain 9_22451586_A->G 9 22451586 22451586 A G snp 2749.77 0/1 99 250 137 113 0.45 exonic DMRTA1 AU synonymous SNV NM_022160 exon2 c.A1191G p.G397G Uncertain 9_24545513_G->A 9 24545513 24545513 G A snp 3404.77 1/1 99 117 0 117 1.0 exonic rs6475797 IZUMO3 AU synonymous SNV NM_001271706 exon1 c.C135T p.P45P 0.736621 0.8115 0.6486 0.8514 Uncertain 9_24545695_G->C 9 24545695 24545695 G C snp 143.77 0/1 99 15 9 6 0.4 upstream rs2772579 IZUMO3 AU 0.217053 0.2183 0.2131 0.1860 Uncertain 9_24545957_G->C 9 24545957 24545957 G C snp 463.77 0/1 99 34 14 20 0.59 upstream rs2772578 IZUMO3 AU 0.285144 0.2212 0.2796 0.2033 Uncertain 9_26101563_T->C 9 26101563 26101563 T C snp 166.9 1/1 15 5 0 5 1.0 intronic rs7046303 LOC100506422 AU NM_001004352 exon3 c.33+6938T>C 0.86242 0.997 Uncertain 9_26116016_G->A 9 26116016 26116016 G A snp 7145.77 1/1 99 250 0 250 1.0 intronic rs10116592 LOC100506422 AU NM_001004352 exon6 c.21534-110G>A 0.60024 0.9008 Uncertain 9_26116150_G->T 9 26116150 26116150 G T snp 6903.77 1/1 99 234 0 234 1.0 exonic rs7019716 LOC100506422 AU nonsynonymous SNV NM_001004352 exon6 c.G326T p.S109I 0.596446 0.8998 0.4815 0.8980 Pathogenic 9_26892301_A->G 9 26892301 26892301 A G snp 1780.77 0/1 99 169 82 87 0.51 UTR5 rs3739550 CAAP1 AU 0.282548 0.6617 0.1694 0.6836 Uncertain 9_26892654_G->A 9 26892654 26892654 G A snp 2848.77 0/1 99 250 131 119 0.48 exonic rs3739548 CAAP1 AU synonymous SNV NM_024828 exon1 c.C60T p.A20A 0.23143 0.6607 0.052419 0.1288 0.6567 Uncertain 9_26923201_A->T 9 26923201 26923201 A T snp 2885.77 0/1 99 250 131 119 0.48 exonic PLAA AU synonymous SNV NM_001031689 exon7 c.T1014A p.P338P 1 D -0.951 T Likely benign 9_26962170_C->A 9 26962170 26962170 C A snp 83.77 0/1 30 4 1 3 0.75 intronic rs3739544 IFT74 AR NM_025103 exon2 c.120+85C>A 0.251398 0.6587 Uncertain 9_26978170_A->G 9 26978170 26978170 A G snp 1081.77 0/1 99 111 60 51 0.46 exonic rs10812505 IFT74 AR nonsynonymous SNV NM_001099222 exon3 c.A165G p.I55M 0.171126 0.5655 0.029667 0.1035 0.5456 0.26 T 0.004 P -0.930 T 0.017 T 0.008 T Pathogenic 9_26978259_A->G 9 26978259 26978259 A G snp 724.77 0/1 99 87 52 35 0.4 exonic rs11555693 IFT74 AR nonsynonymous SNV NM_001099222 exon3 c.A254G p.K85R 0.234026 0.6558 0.061744 0.1285 0.6555 0.4 T 1.000 P -1.000 T 0.459 P 0.122 P Pathogenic 9_26988571_A->G 9 26988571 26988571 A G snp 111.77 0/1 99 9 5 4 0.44 intronic rs10967645 IFT74 AR NM_025103 exon7 c.26701-95A>G 0.318091 0.7024 Uncertain 9_27009305_C->T 9 27009305 27009305 C T snp 200.82 0/1 19 8 1 7 0.88 intronic rs56307252 IFT74 AR NM_025103 exon9 c.47191+149C>T 0.212061 0.6706 Uncertain 9_27047246_T->C 9 27047246 27047246 T C snp 1852.77 0/1 99 136 61 75 0.55 intronic rs10812520 IFT74 AR NM_025103 exon15 c.85306-25T>C 0.778155 0.876 0.764278 0.7725 0.8765 Uncertain 9_27061143_GTGT->- 9 27061143 27061146 GTGT - indel 864.73 0/1 99 51 14 37 0.73 intronic rs112464316 IFT74 AR NM_025103 exon19 c.98684+494_98684+497delGTGT Uncertain 9_27168315_G->A 9 27168315 27168315 G A snp 992.77 1/1 72 28 0 28 1.0 intronic rs10511802 TEK AD NM_000459 exon3 c.58904-177G>A 0.746006 0.6349 Uncertain 9_27168704_T->C 9 27168704 27168704 T C snp 261.8 1/1 21 7 0 7 1.0 intronic rs10967753 TEK AD NM_000459 exon3 c.59015+101T>C 0.499002 0.6567 Uncertain 9_27172838_C->A 9 27172838 27172838 C A snp 1154.77 1/1 84 35 0 35 1.0 intronic rs3739542 TEK AD NM_000459 exon5 c.63157+93C>A 0.702276 0.5823 Uncertain 9_27173062_G->T 9 27173062 27173062 G T snp 31.77 0/1 60 9 6 3 0.33 intronic rs3824410 TEK AD NM_000459 exon6 c.63631-157G>T 0.291733 0.4355 Uncertain 9_27173180_C->T 9 27173180 27173180 C T snp 1411.77 0/1 99 148 86 62 0.42 intronic rs666478 TEK AD NM_000459 exon6 c.63631-39C>T 0.466853 0.2907 0.533523 0.4885 0.2956 Uncertain 9_27183463_A->C 9 27183463 27183463 A C snp 3161.77 1/1 99 120 0 120 1.0 exonic rs682632 TEK AD nonsynonymous SNV NM_000459 exon8 c.A1037C p.Q346P 0.989816 0.999 0.972705 0.9733 0.9999 1 T 0.000 P -0.934 T 0.0 T 0.0 T Pathogenic 9_27192132_C->T 9 27192132 27192132 C T snp 455.77 0/1 99 24 9 15 0.63 intronic rs35417610 TEK AD NM_000459 exon11 c.82898-354C>T 0.0734824 0.0952 Uncertain 9_27192330_G->A 9 27192330 27192330 G A snp 814.77 0/1 99 55 26 29 0.53 intronic rs2252883 TEK AD NM_000459 exon11 c.82898-156G>A 0.717851 0.4405 Uncertain 9_27202726_A->T 9 27202726 27202726 A T snp 241.03 0/1 12 8 1 7 0.88 intronic rs550722 TEK AD NM_000459 exon13 c.93229-91A>T 0.414137 0.3978 Uncertain 9_27202727_T->C 9 27202727 27202727 T C snp 244.03 0/1 12 8 1 7 0.88 intronic rs550721 TEK AD NM_000459 exon13 c.93229-90T>C 0.409744 0.3958 Uncertain 9_27202870_A->G 9 27202870 27202870 A G snp 1962.77 0/1 99 185 102 83 0.45 exonic rs639225 TEK AD synonymous SNV NM_000459 exon13 c.A1962G p.S654S 0.414337 0.3998 0.446256 0.4649 0.4000 ID=COSM3763868,COSM3763867;OCCURENCE=1(large_intestine) Uncertain 9_27203134_A->G 9 27203134 27203134 A G snp 1442.77 0/1 99 110 51 59 0.54 intronic rs638203 TEK AD NM_000459 exon13 c.93529+17A>G 0.414936 0.3978 0.447101 0.4657 0.3999 Uncertain 9_27205021_G->A 9 27205021 27205021 G A snp 1592.77 0/1 99 134 60 74 0.55 exonic rs542913 TEK AD synonymous SNV NM_000459 exon14 c.G2322A p.R774R 0.150958 0.122 0.211287 0.2114 0.1213 Uncertain 9_27205235_T->A 9 27205235 27205235 T A snp 83.77 0/1 33 5 2 3 0.6 intronic rs541065 TEK AD NM_000459 exon14 c.95475+172T>A 0.151358 0.122 Uncertain 9_27206825_G->T 9 27206825 27206825 G T snp 270.77 0/1 99 21 11 10 0.48 intronic rs2273722 TEK AD NM_000459 exon15 c.97202+35G>T 0.0854633 0.1101 0.099031 0.1292 0.1272 Uncertain 9_27206863_C->T 9 27206863 27206863 C T snp 104.77 0/1 99 8 4 4 0.5 intronic rs77008041 TEK AD NM_000459 exon15 c.97202+73C>T 0.00499201 0.001 Uncertain 9_27212966_T->C 9 27212966 27212966 T C snp 45.77 0/1 74 14 11 3 0.21 intronic rs1111782 TEK AD NM_000459 exon17 c.103307+71T>C 0.464856 0.5933 Uncertain 9_27213772_C->T 9 27213772 27213772 C T snp 50.74 1/1 6 2 0 2 1.0 intronic rs3737187 TEK AD NM_000459 exon18 c.104007+177C>T 0.459065 0.5893 Uncertain 9_27217517_TGTT->- 9 27217517 27217520 TGTT - indel 1704.73 1/1 78 26 0 26 1.0 intronic rs397691620 TEK AD NM_000459 exon19 c.108097-168_108097-165delTGTT 0.891174 0.999 Uncertain 9_27217522_G->A 9 27217522 27217522 G A snp 930.77 1/1 69 28 0 28 1.0 intronic rs5004610 TEK AD NM_000459 exon19 c.108097-163G>A 0.891174 0.999 Uncertain 9_27217791_-->C 9 27217791 27217791 - C indel 710.73 1/1 57 23 0 23 1.0 intronic rs1923331 TEK AD NM_000459 exon19 c.108168+35insC 0.520966 0.8095 0.5245 0.7986 Uncertain 9_27217822_G->A 9 27217822 27217822 G A snp 351.78 1/1 27 13 0 13 1.0 intronic rs681754 TEK AD NM_000459 exon19 c.108168+66G>A 0.890974 0.997 0.844722 Uncertain 9_27217851_G->C 9 27217851 27217851 G C snp 223.84 1/1 18 8 0 8 1.0 intronic rs681707 TEK AD NM_000459 exon19 c.108168+95G>C 0.890974 0.997 Uncertain 9_27218726_C->T 9 27218726 27218726 C T snp 1610.77 1/1 99 57 1 56 0.98 intronic rs667250 TEK AD NM_000459 exon20 c.109186-48C>T 0.889577 0.997 0.842842 0.8492 0.9988 Uncertain 9_27284708_T->A 9 27284708 27284708 T A snp 1933.77 0/1 99 146 71 75 0.51 UTR3 rs1057524 EQTN AU 0.347045 0.4732 0.360065 0.4340 0.4724 Uncertain 9_27289812_T->C 9 27289812 27289812 T C snp 322.77 0/1 99 34 20 14 0.41 intronic rs1980661 EQTN AU NM_001161585 exon3 c.5009+83T>C 0.516374 0.5139 Uncertain 9_27289832_G->T 9 27289832 27289832 G T snp 282.77 0/1 99 26 15 11 0.42 intronic rs1980660 EQTN AU NM_001161585 exon3 c.5009+103G>T 0.871406 0.8909 Uncertain 9_27290984_T->C 9 27290984 27290984 T C snp 569.77 0/1 99 36 15 21 0.58 intronic rs2383724 EQTN AU NM_001161585 exon4 c.6296-32T>C 0.878195 0.8938 0.862141 0.8779 0.8789 Uncertain 9_27294511_A->T 9 27294511 27294511 A T snp 336.78 1/1 27 9 0 9 1.0 intronic rs10733415 EQTN AU NM_001161585 exon5 c.9680+111A>T 0.960863 0.999 Uncertain 9_27296595_C->G 9 27296595 27296595 C G snp 399.77 1/1 30 14 0 14 1.0 intronic rs7044345 EQTN AU NM_001161585 exon6 c.11890-15C>G 0.79373 0.8244 0.836570 0.9250 0.8169 Uncertain 9_27296705_A->G 9 27296705 27296705 A G snp 1521.77 1/1 99 61 0 61 1.0 exonic rs3824406 EQTN AU synonymous SNV NM_001161585 exon2 c.T108C p.D36D 0.122005 0.1994 0.126444 0.1490 0.2072 Uncertain 9_27297260_A->T 9 27297260 27297260 A T snp 54.74 1/1 6 2 0 2 1.0 upstream rs7875090 EQTN AU 0.962859 1 Uncertain 9_27330514_G->A 9 27330514 27330514 G A snp 338.77 0/1 81 17 3 14 0.82 UTR3 rs3739530 MOB3B AU 0.182708 0.0823 0.183968 Uncertain 9_27330773_TGTT->- 9 27330773 27330776 TGTT - indel 821.73 0/1 99 46 19 27 0.59 intronic rs10555560 MOB3B AU NM_024761 exon1 c.30+159_30+162delTGTT 0.192692 0.0823 Uncertain 9_27378301_A->G 9 27378301 27378301 A G snp 810.77 0/1 99 76 41 35 0.46 intronic rs1330920 MOB3B AU NM_024761 exon2 c.28650+19067A>G 0.25599 0.1508 0.3359 0.1793 0.000 P Uncertain 9_27455095_G->C 9 27455095 27455095 G C snp 745.77 0/1 99 76 44 32 0.42 intronic rs12379154 MOB3B AU NM_024761 exon3 c.124546-35G>C 0.417931 0.5764 0.376211 0.4638 0.6063 Uncertain 9_27455585_G->A 9 27455585 27455585 G A snp 601.77 0/1 99 39 19 20 0.51 UTR5 rs10757661 MOB3B AU 0.625599 0.6091 0.586268 0.6279 0.6334 Uncertain 9_27524731_A->G 9 27524731 27524731 A G snp 3889.77 1/1 99 124 1 123 0.99 exonic rs700785 IFNK AU nonsynonymous SNV NM_020124 exon1 c.A397G p.K133E 0.933506 0.996 0.924562 0.9706 0.9976 1 T 0.0 P -1.010 T 0.0 T 0.0 T Pathogenic 9_27525022_A->T 9 27525022 27525022 A T snp 136.03 1/1 12 4 0 4 1.0 intronic rs700784 IFNK AU NM_020124 exon1 c.625+63A>T 0.992612 1 Uncertain 9_27548512_A->C 9 27548512 27548512 A C snp 757.77 0/1 99 43 15 28 0.65 intronic rs2305045 C9orf72 AD NM_018325 exon2 c.321-42A>C 0.0852636 0.1855 0.009851 0.0592 0.1861 Uncertain 9_27556780_G->A 9 27556780 27556780 G A snp 821.77 0/1 99 87 45 42 0.48 exonic rs10122902 C9orf72 AD synonymous SNV NM_018325 exon8 c.C870T p.S290S 0.226438 0.3016 0.196217 0.2362 0.3132 ID=COSM3763873;OCCURENCE=1(large_intestine) Uncertain 9_27560417_G->A 9 27560417 27560417 G A snp 56.74 1/1 6 3 1 2 0.67 intronic rs10967985 C9orf72 AD NM_018325 exon6 c.12064+120G>A 0.161342 0.122 Uncertain 9_27561465_-->TGT 9 27561465 27561465 - TGT indel 1494.73 1/1 78 26 0 26 1.0 intronic rs3063748 C9orf72 AD NM_018325 exon7 c.13349-117insTGT 0.987021 1 Uncertain 9_27562352_T->C 9 27562352 27562352 T C snp 403.77 1/1 30 15 0 15 1.0 intronic rs2589050 C9orf72 AD NM_018325 exon8 c.14145-26T>C 1 1 0.999385 0.9998 1 Uncertain 9_27565300_G->A 9 27565300 27565300 G A snp 77.77 0/1 30 4 1 3 0.75 intronic rs10967986 C9orf72 AD NM_018325 exon9 c.17295-228G>A 0.546925 0.7827 Uncertain 9_27565714_A->C 9 27565714 27565714 A C snp 96.28 1/1 9 3 0 3 1.0 intronic rs10757667 C9orf72 AD NM_018325 exon9 c.17355+126A>C 0.162141 0.122 Uncertain 9_27567145_C->T 9 27567145 27567145 C T snp 950.77 0/1 99 107 65 42 0.39 UTR5 rs10757668 C9orf72 AD 0.169529 0.122 0.207955 0.2028 0.1095 Uncertain 9_28863459_A->T 9 28863459 28863459 A T snp 693.77 0/1 99 66 37 29 0.44 downstream rs13285849 MIR876 AU 0.344449 0.3571 Uncertain 9_28889060_C->G 9 28889060 28889060 C G snp 480.77 1/1 36 16 0 16 1.0 upstream rs7043805 MIR873 AU 0.813698 0.8056 Uncertain 9_32384843_A->C 9 32384843 32384843 A C snp 1707.77 1/1 99 64 0 64 1.0 intronic rs913762 ACO1 AU 0.797125 0.7282 Uncertain 9_32418237_G->T 9 32418237 32418237 G T snp 1060.77 0/1 99 106 63 43 0.41 intronic rs2026739 ACO1 AU NM_002197 exon5 c.12691+42G>T 0.660942 0.6438 0.675150 0.6909 0.6221 Uncertain 9_32427600_A->G 9 32427600 32427600 A G snp 292.78 1/1 24 8 0 8 1.0 intronic rs2375965 ACO1 AU NM_002197 exon12 c.21930+166A>G 0.917332 1 Uncertain 9_32433961_C->T 9 32433961 32433961 C T snp 34.77 0/1 63 7 5 2 0.29 intronic rs10970977 ACO1 AU NM_002197 exon16 c.28326+131C>T 0.50599 0.4216 Uncertain 9_32433965_T->C 9 32433965 32433965 T C snp 32.77 0/1 61 7 5 2 0.29 intronic rs7855113 ACO1 AU NM_002197 exon16 c.28326+135T>C 0.8748 0.9236 Uncertain 9_32440404_G->C 9 32440404 32440404 G C snp 944.77 0/1 99 59 22 37 0.63 intronic rs45454698 ACO1 AU NM_002197 exon19 c.34958-58G>C 0.149561 0.0635 Uncertain 9_32466184_G->A 9 32466184 32466184 G A snp 865.77 0/1 99 93 53 40 0.43 intronic rs2274864 DDX58 AD NM_014314 exon3 c.9168-103G>A 0.326677 0.2063 Uncertain 9_32485288_-->A 9 32485288 32485288 - A indel 735.73 0/1 99 117 50 67 0.57 intronic rs398040338 DDX58 AD NM_014314 exon9 c.28158+11insA 0.305911 0.1964 0.346037 0.3559 0.1807 Uncertain 9_32488237_G->C 9 32488237 32488237 G C snp 822.77 0/1 99 65 34 31 0.48 intronic rs10813825 DDX58 AD NM_014314 exon11 c.31082+36G>C 0.317891 0.2083 0.361141 0.3774 0.1730 Uncertain 9_32491240_C->T 9 32491240 32491240 C T snp 1011.77 0/1 99 85 37 48 0.56 intronic rs6476363 DDX58 AD NM_014314 exon14 c.34179-58C>T 0.407748 0.2212 Uncertain 9_32498291_A->G 9 32498291 32498291 A G snp 2649.77 1/1 99 102 0 102 1.0 intronic rs2777725 DDX58 AD NM_014314 exon17 c.43683-2511A>G 0.961262 0.999 0.9662 1 Uncertain 9_32525969_C->A 9 32525969 32525969 C A snp 1100.77 0/1 99 72 28 44 0.61 intronic rs2777729 DDX58 AD NM_014314 exon18 c.68939-89C>A 0.579073 0.4425 Uncertain 9_32526146_G->A 9 32526146 32526146 G A snp 820.77 0/1 99 69 36 33 0.48 exonic rs10813831 DDX58 AD nonsynonymous SNV NM_014314 exon1 c.C19T p.R7C 0.184105 0.1052 0.248424 0.2228 0.0993 0 D 0.000 P -0.978 T 0.998 D 0.736 D ID=COSM3763882;OCCURENCE=1(large_intestine) ID=CM091752;DIS=Reduced activity, association with;TAG=DFP;PUB=19324880 DFP Pathogenic 9_32526233_G->C 9 32526233 32526233 G C snp 62.77 0/1 91 15 11 4 0.27 UTR5 rs3739674 DDX58 AD 0.536741 0.4474 Uncertain 9_32552173_A->- 9 32552173 32552173 A - indel 302.73 0/1 99 54 14 40 0.74 ncRNA_intronic rs35415231 TOPORS-AS1 AU 0.548522 0.6667 Uncertain 9_32571152_A->G 9 32571152 32571152 A G snp 70.77 0/1 99 13 9 4 0.31 intronic rs75143049 NDUFB6 AU NM_002493 exon3 c.17177+102A>G 0.0383387 0.1012 Uncertain 9_32630472_T->C 9 32630472 32630472 T C snp 1440.77 0/1 99 129 62 67 0.52 exonic rs10758145 TAF1L AU synonymous SNV NM_153809 exon1 c.A5106G p.K1702K 0.346046 0.3681 0.314701 0.2810 0.3812 Uncertain 9_32631369_C->T 9 32631369 32631369 C T snp 1774.77 0/1 99 157 85 72 0.46 exonic rs10971047 TAF1L AU synonymous SNV NM_153809 exon1 c.G4209A p.T1403T 0.161542 0.3095 0.097417 0.1311 0.3040 Uncertain 9_32973710_A->- 9 32973710 32973710 A - indel 143.73 0/1 60 36 8 28 0.78 intronic rs34659850 APTX AR NM_175069 exon1 c.5+24delA 0.466653 0.5109 0.2993 0.1922 Uncertain 9_32974372_C->T 9 32974372 32974372 C T snp 1176.77 1/1 84 43 0 43 1.0 intronic rs4878522 APTX AR NM_001195250 exon2 c.960-83C>T 0.974241 1 Uncertain 9_32974570_-->A 9 32974570 32974570 - A indel 256.74 1/1 30 20 0 20 1.0 intronic rs34600530 APTX AR NM_001195250 exon2 c.1064+11insA 0.688698 0.8492 0.584185 0.6513 0.8539 Uncertain 9_32986040_A->C 9 32986040 32986040 A C snp 41.77 0/1 70 4 2 2 0.5 intronic rs1981011 APTX AR NM_001195250 exon4 c.12533+12A>C 0.5836 0.7084 Uncertain 9_32986041_C->A 9 32986041 32986041 C A snp 86.77 0/1 30 4 1 3 0.75 intronic rs10123944 APTX AR NM_001195250 exon4 c.12533+13C>A 0.6263 0.7463 CLINSIG=non-pathogenic;CLNDBN=not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000123681.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Uncertain 9_32988341_C->A 9 32988341 32988341 C A snp 242.77 0/1 99 26 16 10 0.38 intronic rs74922775 APTX AR NM_001195249 exon6 c.14632+214C>A 0.0658946 0.1131 Uncertain 9_32989585_G->A 9 32989585 32989585 G A snp 735.77 0/1 99 64 31 33 0.52 intronic rs144105398 APTX AR NM_001195250 exon6 c.16261-171G>A 0.00179712 0.0079 0.0009 0.0129 Uncertain 9_33001441_G->A 9 33001441 33001441 G A snp 186.77 0/1 99 15 8 7 0.47 intronic rs10813920 APTX AR NM_001195254 exon7 c.28018-72G>A 0.160543 0.2857 0.2190 0.4436 Uncertain 9_33001449_C->A 9 33001449 33001449 C A snp 668.77 1/1 51 21 0 21 1.0 intronic rs1197774 APTX AR NM_001195254 exon7 c.28018-64C>A 0.593251 0.5615 0.5995 0.6416 Uncertain 9_33026572_T->C 9 33026572 33026572 T C snp 4006.77 1/1 99 153 0 153 1.0 exonic rs20583 DNAJA1 AU synonymous SNV NM_001539 exon2 c.T90C p.A30A 0.597843 0.5744 0.610411 0.5191 0.5537 ID=COSM4163726;OCCURENCE=1(thyroid) Uncertain 9_33047398_T->C 9 33047398 33047398 T C snp 242.77 0/1 99 54 39 15 0.28 intronic rs2274767 SMU1 AU NM_018225 exon1 c.99+9T>C 0.387979 0.2867 0.437490 0.3848 0.2658 Uncertain 9_33056299_C->T 9 33056299 33056299 C T snp 456.77 0/1 99 39 18 21 0.54 intronic rs11789823 SMU1 AU NM_018225 exon4 c.8947+62C>T 0.113419 0.122 Uncertain 9_33056303_T->G 9 33056303 33056303 T G snp 427.77 0/1 99 38 18 20 0.53 intronic rs11791939 SMU1 AU NM_018225 exon4 c.8947+66T>G 0.105032 0.126 Uncertain 9_33056378_G->A 9 33056378 33056378 G A snp 197.77 0/1 99 10 4 6 0.6 intronic rs11789863 SMU1 AU NM_018225 exon4 c.8947+141G>A 0.105032 0.126 Uncertain 9_33057844_A->G 9 33057844 33057844 A G snp 967.77 0/1 99 75 37 38 0.51 intronic rs2274765 SMU1 AU NM_018225 exon6 c.10422+132A>G 0.105032 0.126 Uncertain 9_33060754_T->G 9 33060754 33060754 T G snp 269.77 0/1 99 15 6 9 0.6 intronic rs10971374 SMU1 AU NM_018225 exon7 c.13292+172T>G 0.105232 0.126 Uncertain 9_33062128_G->A 9 33062128 33062128 G A snp 1288.77 0/1 99 111 53 58 0.52 exonic rs2274764 SMU1 AU synonymous SNV NM_018225 exon5 c.C549T p.T183T 0.0690895 0.122 0.029525 0.0547 0.1360 Uncertain 9_33062183_-->A 9 33062183 33062183 - A indel 1337.73 0/1 99 166 81 85 0.51 intronic rs199890461 SMU1 AU NM_018225 exon8 c.14885+8insA 0.104832 0.126 0.1639 0.1642 Uncertain 9_33062197_T->C 9 33062197 33062197 T C snp 1892.77 0/1 99 170 83 87 0.51 intronic rs10813929 SMU1 AU NM_018225 exon8 c.14885+22T>C 0.116014 0.126 0.121713 0.1376 0.1370 Uncertain 9_33062291_A->G 9 33062291 33062291 A G snp 1167.77 0/1 99 100 56 44 0.44 intronic rs13290323 SMU1 AU NM_018225 exon8 c.14885+116A>G 0.336861 0.2857 Uncertain 9_33069062_G->A 9 33069062 33069062 G A snp 1246.77 0/1 99 121 72 49 0.4 intronic rs10971383 SMU1 AU NM_018225 exon9 c.21642+130G>A 0.163339 0.3026 Uncertain 9_33166745_C->A 9 33166745 33166745 C A snp 4016.77 1/1 99 146 0 146 1.0 intronic rs73472943 B4GALT1 AR NM_001497 exon6 c.53304-10C>A 0.11861 0.125 0.090084 0.0850 0.1556 Uncertain 9_33240165_G->C 9 33240165 33240165 G C snp 1133.77 0/1 99 87 38 49 0.56 upstream rs555445 SPINK4 AU 0.38119 0.2569 0.371327 0.2940 0.2749 Uncertain 9_33240225_G->A 9 33240225 33240225 G A snp 1308.77 0/1 99 104 47 57 0.55 exonic rs706107 SPINK4 AU nonsynonymous SNV NM_014471 exon1 c.G19A p.V7I 0.380192 0.2569 0.372347 0.3114 0.2893 0.79 T 0.000 P -0.949 T 0.01 T 0.003 T Pathogenic 9_33255743_A->G 9 33255743 33255743 A G snp 1564.77 0/1 99 124 57 67 0.54 intronic rs706117 BAG1 AU NM_001172415 exon2 c.646-119A>G 0.388179 0.2579 Uncertain 9_33262672_AAAG->- 9 33262672 33262675 AAAG - indel 657.73 0/1 99 32 19 13 0.41 intronic rs201675123 BAG1 AU NM_001172415 exon6 c.7483-27_7483-24delAAAG 0.0147764 0.0655 0.0059 0.0648 Uncertain 9_33264540_C->G 9 33264540 33264540 C G snp 1164.77 1/1 84 40 0 40 1.0 exonic rs1071545 BAG1 AU nonsynonymous SNV NM_004323 exon1 c.G133C p.G45R 0.979433 1 0.982327 0.9951 1 0.91 T 0.001 P -0.960 T 0.0 T 0.0 T ID=COSM3750171;OCCURENCE=2(large_intestine) Pathogenic 9_33270748_G->T 9 33270748 33270748 G T snp 1829.77 1/1 99 70 0 70 1.0 intronic rs831271 CHMP5 AU NM_016410 exon4 c.5638+34G>T 0.792931 0.8383 0.805090 0.8273 0.8418 Uncertain 9_33290532_A->G 9 33290532 33290532 A G snp 6622.77 1/1 99 245 0 245 1.0 UTR5 rs830576 NFX1 AU 0.820088 0.8383 0.833846 0.8376 0.8419 Uncertain 9_33290657_G->A 9 33290657 33290657 G A snp 2204.77 0/1 99 188 94 94 0.5 intronic rs3814515 NFX1 AU NM_147133 exon1 c.25+62G>A 0.0523163 0.0923 0.051686 Uncertain 9_33290688_G->C 9 33290688 33290688 G C snp 1596.77 0/1 99 129 69 60 0.47 intronic rs4879682 NFX1 AU NM_147133 exon1 c.25+93G>C 0.559904 0.7431 Uncertain 9_33310993_G->A 9 33310993 33310993 G A snp 1044.77 0/1 99 62 21 41 0.66 intronic rs41274035 NFX1 AU NM_147133 exon6 c.20533-110G>A 0.0517173 0.0923 Uncertain 9_33318588_A->G 9 33318588 33318588 A G snp 86.77 0/1 30 4 1 3 0.75 intronic rs3849903 NFX1 AU NM_147133 exon8 c.28158-140A>G 0.557708 0.7431 Uncertain 9_33344252_T->A 9 33344252 33344252 T A snp 1904.77 1/1 99 54 0 54 1.0 intronic rs642157 NFX1 AU NM_147133 exon14 c.53616+66T>A 0.819688 0.8373 Uncertain 9_33352826_-->AAA 9 33352826 33352826 - AAA indel 355.8 1/1 18 7 0 7 1.0 intronic rs34707657 NFX1 AU NM_147133 exon17 c.62147+109insAAA 0.817093 0.8373 Uncertain 9_33354071_TTTTA->- 9 33354071 33354075 TTTTA - indel 3885.73 0/1 99 106 52 54 0.51 intronic rs145934546 NFX1 AU NM_147133 exon18 c.63513-12_63513-8delTTTTA 0.301518 0.3859 0.332481 0.4625 0.4046 Uncertain 9_33354722_G->T 9 33354722 33354722 G T snp 460.77 0/1 99 50 30 20 0.4 intronic rs146247251 NFX1 AU NM_147133 exon19 c.64278-126G>T 0.00559105 0.0149 Uncertain 9_33354937_G->A 9 33354937 33354937 G A snp 626.77 0/1 99 64 35 29 0.45 intronic rs4878534 NFX1 AU NM_147133 exon19 c.64320+47G>A 0.0509185 0.0923 0.058588 0.0615 0.0902 Uncertain 9_33385884_G->T 9 33385884 33385884 G T snp 83.77 0/1 69 5 2 3 0.6 intronic rs78524516 AQP7 AR NM_001170 exon2 c.862+20G>T 0.00599042 0.0258 0.000154 0.0037 0.0377 Uncertain 9_33386144_G->A 9 33386144 33386144 G A snp 167.77 0/1 99 53 42 11 0.21 exonic rs76209395 AQP7 AR synonymous SNV NM_001170 exon6 c.C456T p.V152V 0.4009 0.3865 ID=COSM4163740,COSM4163741,COSM4163739;OCCURENCE=4(thyroid) Uncertain 9_33386146_C->A 9 33386146 33386146 C A snp 195.77 0/1 99 54 42 12 0.22 exonic rs76608797 AQP7 AR nonsynonymous SNV NM_001170 exon6 c.G454T p.V152F 0.3171 0.3075 0.5 T 1 N -0.860 T 0.002 T 0.009 T ID=COSM4007159,COSM4007160;OCCURENCE=4(thyroid),2(urinary_tract) Pathogenic 9_33386167_G->C 9 33386167 33386167 G C snp 432.77 0/1 99 75 52 23 0.31 exonic rs79172651 AQP7 AR nonsynonymous SNV NM_001170 exon6 c.C433G p.Q145E 0.2708 0.2663 1 T 1 N -0.974 T 0.0 T 0.002 T ID=COSM4163743,COSM4163742,COSM4163744;OCCURENCE=4(thyroid) Pathogenic 9_33386211_G->A 9 33386211 33386211 G A snp 577.77 0/1 99 95 61 34 0.36 intronic rs80148578 AQP7 AR NM_001170 exon3 c.1191+18G>A 0.4906 0.4924 Uncertain 9_33386226_T->C 9 33386226 33386226 T C snp 626.77 0/1 99 96 61 35 0.36 intronic rs78244036 AQP7 AR NM_001170 exon3 c.1191+33T>C 0.4985 0.4986 Uncertain 9_33386243_C->T 9 33386243 33386243 C T snp 614.77 0/1 99 93 60 33 0.35 intronic rs76705820 AQP7 AR NM_001170 exon3 c.1191+50C>T 0.000199681 0.4979 0.4967 Uncertain 9_33386284_T->G 9 33386284 33386284 T G snp 568.77 0/1 99 64 37 27 0.42 intronic rs73478964 AQP7 AR NM_001170 exon3 c.1191+91T>G Uncertain 9_33386395_T->C 9 33386395 33386395 T C snp 1110.77 1/1 81 37 0 37 1.0 intronic rs2484931 AQP7 AR NM_001170 exon4 c.1399-6T>C 0.97524 1 0.9917 0.9997 Uncertain 9_33386465_A->G 9 33386465 33386465 A G snp 286.77 0/1 99 71 56 15 0.21 exonic rs74668961 AQP7 AR nonsynonymous SNV NM_001170 exon5 c.T343C p.Y115H 0.0648 0.0552 0.02 T 1.000 D 1.018 D 1.0 D 0.998 D ID=COSM3774369,COSM4007164,COSM3774368;OCCURENCE=2(kidney),1(urinary_tract),1(thyroid) Pathogenic 9_33386469_C->T 9 33386469 33386469 C T snp 269.77 0/1 99 70 55 15 0.21 exonic rs78695486 AQP7 AR synonymous SNV NM_001170 exon5 c.G339A p.P113P 0.000399361 0.0752 0.0636 ID=COSM3774370,COSM3774371,COSM4007165,COSM3774372;OCCURENCE=1(kidney),1(urinary_tract),1(thyroid) Uncertain 9_33386510_C->T 9 33386510 33386510 C T snp 337.77 0/1 99 70 50 20 0.29 exonic rs77962308 AQP7 AR nonsynonymous SNV NM_001170 exon5 c.G298A p.A100T 0.4118 0.4161 0.42 T 0.0 P -0.587 T 0.022 T 0.077 T ID=COSM4163745,COSM4163747,COSM4163746;OCCURENCE=1(thyroid) Pathogenic 9_33386511_A->G 9 33386511 33386511 A G snp 354.77 0/1 99 70 50 20 0.29 exonic rs72707424 AQP7 AR synonymous SNV NM_001170 exon5 c.T297C p.F99F 0.4223 0.4299 ID=COSM4163750,COSM4163748,COSM4163751,COSM4163749;OCCURENCE=1(thyroid) Uncertain 9_33386526_G->A 9 33386526 33386526 G A snp 378.77 0/1 99 66 46 20 0.3 exonic rs79202054 AQP7 AR synonymous SNV NM_001170 exon5 c.C282T p.N94N 0.000199681 0.4188 0.4256 ID=COSM4163754,COSM4163753,COSM4163755,COSM4163752;OCCURENCE=2(thyroid) Uncertain 9_33395031_G->A 9 33395031 33395031 G A snp 515.77 0/1 99 101 76 25 0.25 intronic rs72707429 AQP7 AR NM_001170 exon6 c.10073-44G>A 0.4896 0.4907 Uncertain 9_33395039_C->T 9 33395039 33395039 C T snp 495.77 0/1 99 109 84 25 0.23 intronic rs72707431 AQP7 AR NM_001170 exon6 c.10073-36C>T 0.4900 0.4926 Uncertain 9_33395108_G->A 9 33395108 33395108 G A snp 216.77 0/1 99 206 183 23 0.11 exonic rs2381003 AQP7 AR synonymous SNV NM_001170 exon3 c.C112T p.L38L 0.3755 0.4025 ID=COSM3774376;OCCURENCE=4(thyroid),1(pancreas),1(kidney) Uncertain 9_33395196_A->G 9 33395196 33395196 A G snp 3372.77 1/1 99 122 0 122 1.0 splicing rs642636 AQP7 AR NM_001170 exon6 c.10191+3A>G 0.990815 1 0.993077 0.9980 1 ID=COSM4163759,COSM4163760;OCCURENCE=1(thyroid) Pathogenic 9_33442952_G->A 9 33442952 33442952 G A snp 1986.77 1/1 99 70 0 70 1.0 exonic rs2228332 AQP3 AU synonymous SNV NM_004925 exon4 c.C390T p.F130F 0.658746 0.6875 0.640012 0.6276 0.7177 Uncertain 9_33442986_A->C 9 33442986 33442986 A C snp 1284.77 1/1 93 39 0 39 1.0 intronic rs2231231 AQP3 AU NM_004925 exon3 c.928+18A>C 0.680711 0.7034 0.687298 0.6629 0.7217 Uncertain 9_33443106_G->A 9 33443106 33443106 G A snp 263.78 1/1 24 8 0 8 1.0 intronic rs2231228 AQP3 AU NM_004925 exon3 c.928+138G>A 0.175319 0.2143 Uncertain 9_33444000_G->C 9 33444000 33444000 G C snp 472.77 1/1 36 14 0 14 1.0 intronic rs2227285 AQP3 AU NM_004925 exon5 c.1850+110G>C 0.313498 0.4355 Uncertain 9_33447306_C->G 9 33447306 33447306 C G snp 2463.77 1/1 99 82 0 82 1.0 intronic rs517210 AQP3 AU NM_004925 exon6 c.5380-114C>G 0.732827 0.7669 Uncertain 9_33447424_C->G 9 33447424 33447424 C G snp 3672.77 1/1 99 138 0 138 1.0 exonic rs591810 AQP3 AU synonymous SNV NM_004925 exon1 c.G105C p.L35L 0.741214 0.7629 0.742410 0.7171 0.7486 Uncertain 9_33465182_G->A 9 33465182 33465182 G A snp 3760.77 1/1 99 133 0 133 1.0 intronic rs2785210 NOL6 AU NM_022917 exon7 c.2543-22G>A 0.496805 0.4286 0.577391 0.5777 0.5397 Uncertain 9_33465651_T->C 9 33465651 33465651 T C snp 1049.77 1/1 75 34 0 34 1.0 intronic rs560833 NOL6 AU NM_022917 exon8 c.3070-80T>C 0.497204 0.4286 Uncertain 9_33467577_T->C 9 33467577 33467577 T C snp 4043.77 1/1 99 139 0 139 1.0 intronic rs2275228 NOL6 AU NM_022917 exon14 c.4853+63T>C 0.188698 0.1518 Uncertain 9_33467983_G->A 9 33467983 33467983 G A snp 1365.77 1/1 99 42 0 42 1.0 intronic rs679644 NOL6 AU NM_022917 exon16 c.5366-44G>A 0.999002 1 0.999462 0.9998 1 Uncertain 9_33469406_C->T 9 33469406 33469406 C T snp 3061.77 1/1 99 106 0 106 1.0 intronic rs2777746 NOL6 AU NM_022917 exon21 c.6678+67C>T 0.248802 0.1796 Uncertain 9_33473893_T->G 9 33473893 33473893 T G snp 3909.77 1/1 99 141 0 141 1.0 UTR5 rs2777744 NOL6 AU 0.584465 0.5893 0.632282 Uncertain 9_33524684_G->A 9 33524684 33524684 G A snp 1664.77 1/1 99 49 0 49 1.0 exonic rs3843933 ANKRD18B AU nonsynonymous SNV NM_001244752 exon1 c.G197A p.R66K 0.753195 0.8462 0.7980 0.8519 1 T 1.000 N -0.972 T ID=COSM4163769;OCCURENCE=1(thyroid) Pathogenic 9_33524725_G->T 9 33524725 33524725 G T snp 702.77 1/1 54 25 0 25 1.0 intronic rs3843934 ANKRD18B AU NM_001244752 exon1 c.206+32G>T 0.753794 0.8462 0.8098 0.8549 Uncertain 9_33555702_C->- 9 33555702 33555702 C - indel 1000.73 0/1 99 53 24 29 0.55 splicing rs199537216 ANKRD18B AU NM_001244752 exon11 c.31218-3delC 0.116014 0.2927 0.1314 0.3136 Pathogenic 9_33558025_T->A 9 33558025 33558025 T A snp 329.77 0/1 99 34 21 13 0.38 intronic rs34748833 ANKRD18B AU NM_001244752 exon12 c.33568-30T>A 0.358427 0.3244 0.4594 0.3714 Uncertain 9_33568789_T->G 9 33568789 33568789 T G snp 1043.77 0/1 99 86 38 48 0.56 exonic rs10971566 ANKRD18B AU synonymous SNV NM_001244752 exon15 c.T2886G p.L962L 0.199681 0.2143 0.2730 0.1875 ID=COSM3763895,COSM3763894;OCCURENCE=1(large_intestine),1(breast) Uncertain 9_33573377_T->C 9 33573377 33573377 T C snp 204.77 0/1 99 18 9 9 0.5 downstream rs597219 ANKRD18B AU 0.680711 0.6736 Uncertain 9_33617692_GGATGTAACACG->- 9 33617692 33617703 GGATGTAACACG - indel 1996.73 0/1 99 25 11 14 0.56 intergenic rs147881110 ANKRD18B AU 0.439696 0.5169 Uncertain 9_33618028_A->G 9 33618028 33618028 A G snp 573.77 0/1 99 32 13 19 0.59 intergenic rs855511 ANKRD18B AU 0.453275 0.5169 Uncertain 9_33618358_A->G 9 33618358 33618358 A G snp 1450.77 0/1 99 169 102 67 0.4 intergenic rs855512 ANKRD18B AU 0.449281 0.5198 0.5072 0.5152 Uncertain 9_33618460_A->T 9 33618460 33618460 A T snp 707.77 0/1 99 80 50 30 0.38 intergenic rs966447 ANKRD18B AU 0.428914 0.5278 0.5036 0.5233 Uncertain 9_33618497_G->A 9 33618497 33618497 G A snp 447.77 0/1 99 41 24 17 0.41 intergenic rs2380835 ANKRD18B AU 0.427516 0.5228 0.5035 0.5225 Uncertain 9_33625082_G->C 9 33625082 33625082 G C snp 2949.77 0/1 99 250 137 113 0.45 ncRNA_exonic rs10758216 ANXA2P2 AU 0.297724 0.2956 0.3553 0.2799 Uncertain 9_33625185_C->T 9 33625185 33625185 C T snp 3248.77 0/1 99 250 123 127 0.51 ncRNA_exonic rs36079164 ANXA2P2 AU 0.385783 0.5268 0.4243 0.5264 Uncertain 9_33625360_T->C 9 33625360 33625360 T C snp 774.77 0/1 99 52 23 29 0.56 ncRNA_exonic rs10971607 ANXA2P2 AU 0.252596 0.2937 Uncertain 9_33629238_T->C 9 33629238 33629238 T C snp 1025.77 0/1 99 95 53 42 0.44 intergenic rs10814016 ANXA2P2 AU 0.297724 0.2956 0.3077 0.3025 Uncertain 9_33629249_T->C 9 33629249 33629249 T C snp 1072.77 0/1 99 97 51 46 0.47 intergenic rs10814017 ANXA2P2 AU 0.297125 0.2956 0.3060 0.3037 Uncertain 9_33638046_G->C 9 33638046 33638046 G C snp 2969.77 0/1 99 249 127 122 0.49 intergenic rs7044689 ANXA2P2 AU 0.218051 0.2937 0.1792 0.3012 Uncertain 9_33649383_C->A 9 33649383 33649383 C A snp 1468.77 0/1 99 102 51 51 0.5 intergenic rs855547 ANXA2P2 AU 0.488019 0.3433 Uncertain 9_33662182_CTGTAGCCCCAA->- 9 33662182 33662193 CTGTAGCCCCAA - indel 3530.73 0/1 99 61 35 26 0.43 intergenic rs113011049 ANXA2P2 AU 0.197883 0.2133 0.1678 0.2249 Uncertain 9_33662389_A->G 9 33662389 33662389 A G snp 3244.77 0/1 99 250 118 132 0.53 intergenic rs1832325 ANXA2P2 AU 0.200879 0.2133 0.2245 0.2243 1 T -1.010 T Uncertain 9_33675629_A->C 9 33675629 33675629 A C snp 3573.77 0/1 99 250 104 146 0.58 ncRNA_exonic rs7849845 PTENP1 AU 0.282548 0.2153 0.2799 0.2243 Uncertain 9_33676094_C->G 9 33676094 33676094 C G snp 2904.77 0/1 99 188 83 105 0.56 ncRNA_exonic rs7853346 PTENP1 AU 0.282548 0.2153 0.2794 0.2237 Uncertain 9_33750453_-->CACAG 9 33750453 33750453 - CACAG indel 373.73 0/1 99 17 11 6 0.35 upstream rs113217588 PRSS3 AU 0.394369 0.244 Uncertain 9_33750748_G->T 9 33750748 33750748 G T snp 541.77 0/1 99 55 29 26 0.47 intronic rs10971678 PRSS3 AU NM_007343 exon1 c.211+23G>T 0.352835 0.5933 0.4187 0.6731 Uncertain 9_33794667_C->G 9 33794667 33794667 C G snp 66.77 0/1 95 52 44 8 0.15 intronic rs369375802 PRSS3 AU NM_001197098 exon2 c.45809-1973C>G Uncertain 9_33794726_G->C 9 33794726 33794726 G C snp 47.77 0/1 76 111 96 15 0.14 intronic PRSS3 AU NM_001197098 exon2 c.45809-1914G>C Uncertain 9_33794727_C->A 9 33794727 33794727 C A snp 82.77 0/1 99 112 97 15 0.13 intronic PRSS3 AU NM_001197098 exon2 c.45809-1913C>A Uncertain 9_33794736_A->G 9 33794736 33794736 A G snp 225.77 0/1 99 119 100 19 0.16 intronic PRSS3 AU NM_001197098 exon2 c.45809-1904A>G Uncertain 9_33794749_C->A 9 33794749 33794749 C A snp 248.77 0/1 99 129 107 22 0.17 UTR5 rs755334787 PRSS3 AU 0.2250 0.0798 Uncertain 9_33794753_A->G 9 33794753 33794753 A G snp 280.77 0/1 99 136 110 26 0.19 UTR5 rs765627754 PRSS3 AU 0.2179 0.0813 Uncertain 9_33794759_G->A 9 33794759 33794759 G A snp 316.77 0/1 99 144 117 27 0.19 UTR5 rs576103071 PRSS3 AU 0.000798722 0.1678 0.0793 Uncertain 9_33794809_G->A 9 33794809 33794809 G A snp 344.77 0/1 99 151 122 29 0.19 exonic rs201061108 PRSS3 AU nonsynonymous SNV NM_001197097 exon2 c.G20A p.S7N 0.0293 0.0293 1 T 1 N -0.752 T 0.0 T 0.0 T Pathogenic 9_33794812_G->T 9 33794812 33794812 G T snp 351.77 0/1 99 149 120 29 0.19 exonic rs199873220 PRSS3 AU nonsynonymous SNV NM_001197097 exon2 c.G23T p.G8V 0.0320 0.0304 0.27 T 1 N -0.789 T 0.0 T 0.001 T Pathogenic 9_33794894_T->C 9 33794894 33794894 T C snp 326.77 0/1 99 104 81 23 0.22 intronic rs760032954 PRSS3 AU NM_001197097 exon2 c.82+23T>C 0.3121 0.1079 Uncertain 9_33795552_G->A 9 33795552 33795552 G A snp 46.77 0/1 75 166 153 13 0.08 intronic rs749033125 PRSS3 AU NM_001197097 exon2 c.82+681G>A 0.2260 0.2497 Uncertain 9_33795579_C->T 9 33795579 33795579 C T snp 453.77 0/1 99 187 161 26 0.14 exonic rs771537600 PRSS3 AU nonsynonymous SNV NM_002771 exon1 c.C8T p.P3L 0.2579 0.2927 0.67 T 1.000 N -0.835 T 0.0 T 0.001 T ID=COSM1600282;OCCURENCE=1(central_nervous_system),1(skin) Pathogenic 9_33795581_T->C 9 33795581 33795581 T C snp 468.77 0/1 99 188 161 27 0.14 exonic rs772714741 PRSS3 AU nonsynonymous SNV NM_002771 exon1 c.T10C p.F4L 0.2596 0.2947 1 T 0.997 D -0.774 T 0.0 T 0.001 T ID=COSM3735902;OCCURENCE=1(skin) Pathogenic 9_33795583_C->T 9 33795583 33795583 C T snp 485.77 0/1 99 187 160 27 0.14 exonic rs759995158 PRSS3 AU synonymous SNV NM_002771 exon1 c.C12T p.F4F 0.2558 0.2895 Uncertain 9_33795593_G->A 9 33795593 33795593 G A snp 561.77 0/1 99 190 155 35 0.18 exonic rs201140357 PRSS3 AU nonsynonymous SNV NM_002771 exon1 c.G22A p.A8T 0.2546 0.2898 0.38 T 1 D -0.491 T 0.002 T 0.007 T Pathogenic 9_33795601_G->T 9 33795601 33795601 G T snp 677.77 0/1 99 196 160 36 0.18 exonic rs764550496 PRSS3 AU synonymous SNV NM_002771 exon1 c.G30T p.V10V 0.2537 0.2928 Uncertain 9_33795603_G->C 9 33795603 33795603 G C snp 712.77 0/1 99 198 160 38 0.19 exonic rs751787967 PRSS3 AU nonsynonymous SNV NM_002771 exon1 c.G32C p.G11A 0.2605 0.3050 0.3 T 1 D -0.527 T 0.008 T 0.067 T Pathogenic 9_33795613_C->T 9 33795613 33795613 C T snp 930.77 0/1 99 206 157 49 0.24 splicing rs756027884 PRSS3 AU NM_002771 exon1 c.40+2C>T 0.2515 0.2958 1 D Pathogenic 9_33795622_T->C 9 33795622 33795622 T C snp 948.77 0/1 99 199 149 50 0.25 intronic rs754830462 PRSS3 AU NM_002771 exon1 c.40+11T>C 0.2487 0.2967 Uncertain 9_33795624_A->C 9 33795624 33795624 A C snp 990.77 0/1 99 197 145 52 0.26 intronic rs747763516 PRSS3 AU NM_002771 exon1 c.40+13A>C 0.2524 0.3037 Uncertain 9_33795638_C->T 9 33795638 33795638 C T snp 997.77 0/1 99 192 141 51 0.27 intronic rs767728657 PRSS3 AU NM_002771 exon1 c.40+27C>T 0.2520 0.3014 Uncertain 9_33795641_C->A 9 33795641 33795641 C A snp 1010.77 0/1 99 189 139 50 0.26 intronic rs766439100 PRSS3 AU NM_002771 exon1 c.40+30C>A 0.0422 0.0695 Uncertain 9_33795645_C->- 9 33795645 33795645 C - indel 987.73 0/1 99 189 133 56 0.3 intronic rs370250357 PRSS3 AU NM_002771 exon1 c.40+34delC 0.0028 0.0034 Uncertain 9_33795646_C->A 9 33795646 33795646 C A snp 980.77 0/1 99 187 135 52 0.28 intronic rs780792340 PRSS3 AU NM_002771 exon1 c.40+35C>A 0.0002 0.0001 Uncertain 9_33795652_T->C 9 33795652 33795652 T C snp 1176.77 0/1 99 199 134 65 0.33 intronic rs766459460 PRSS3 AU NM_002771 exon1 c.40+41T>C 0.3430 0.4163 Uncertain 9_33795703_C->T 9 33795703 33795703 C T snp 1058.77 0/1 99 143 89 54 0.38 intronic rs370216620 PRSS3 AU NM_002771 exon1 c.40+92C>T 0.000399361 0.001 Uncertain 9_33795707_C->G 9 33795707 33795707 C G snp 1083.77 0/1 99 134 84 50 0.37 intronic rs373461727 PRSS3 AU NM_002771 exon1 c.40+96C>G Uncertain 9_33795731_A->G 9 33795731 33795731 A G snp 953.77 0/1 99 91 54 37 0.41 intronic rs757866675 PRSS3 AU NM_002771 exon1 c.40+120A>G Uncertain 9_33795735_A->T 9 33795735 33795735 A T snp 938.77 0/1 99 88 51 37 0.42 intronic PRSS3 AU NM_002771 exon1 c.40+124A>T Uncertain 9_33795739_C->T 9 33795739 33795739 C T snp 932.77 0/1 99 85 49 36 0.42 intronic PRSS3 AU NM_002771 exon1 c.40+128C>T Uncertain 9_33795762_C->T 9 33795762 33795762 C T snp 428.77 0/1 99 39 22 17 0.44 intronic PRSS3 AU NM_002771 exon1 c.40+151C>T Uncertain 9_33795775_C->T 9 33795775 33795775 C T snp 207.77 0/1 99 23 15 8 0.35 intronic PRSS3 AU NM_002771 exon1 c.40+164C>T Uncertain 9_33795780_T->C 9 33795780 33795780 T C snp 204.77 0/1 99 21 13 8 0.38 intronic PRSS3 AU NM_002771 exon1 c.40+169T>C Uncertain 9_33795787_T->C 9 33795787 33795787 T C snp 65.77 0/1 94 11 8 3 0.27 intronic PRSS3 AU NM_002771 exon1 c.40+176T>C Uncertain 9_33795791_C->T 9 33795791 33795791 C T snp 68.77 0/1 97 8 5 3 0.38 intronic PRSS3 AU NM_002771 exon1 c.40+180C>T Uncertain 9_33795793_C->G 9 33795793 33795793 C G snp 34.77 0/1 63 7 5 2 0.29 intronic PRSS3 AU NM_002771 exon1 c.40+182C>G Uncertain 9_33795808_A->G 9 33795808 33795808 A G snp 32.77 0/1 61 5 3 2 0.4 intronic rs2075584 PRSS3 AU NM_002771 exon1 c.40+197A>G 0.276558 0.5784 Uncertain 9_33796660_T->C 9 33796660 33796660 T C snp 273.77 0/1 99 99 79 20 0.2 exonic rs760851289 PRSS3 AU synonymous SNV NM_001197098 exon2 c.T39C p.D13D 0.0010 0.0014 Uncertain 9_33796672_T->C 9 33796672 33796672 T C snp 328.77 0/1 99 128 103 25 0.2 exonic rs77765166 PRSS3 AU synonymous SNV NM_001197098 exon2 c.T51C p.I17I 0.0210 0.0080 Uncertain 9_33796673_G->A 9 33796673 33796673 G A snp 290.77 0/1 99 130 106 24 0.18 exonic rs76740888 PRSS3 AU nonsynonymous SNV NM_001197098 exon2 c.G52A p.V18I 0.0199 0.0075 0.66 T 0.930 D -0.258 T 0.284 T 0.319 T Pathogenic 9_33796734_C->A 9 33796734 33796734 C A snp 147.77 0/1 99 250 225 25 0.1 exonic rs750158157 PRSS3 AU nonsynonymous SNV NM_001197098 exon2 c.C113A p.S38Y 5.769e-05 0 1 T 1.000 N -0.761 T 0.0 T 0.001 T Pathogenic 9_33796777_A->G 9 33796777 33796777 A G snp 596.77 0/1 99 250 197 53 0.21 exonic rs368576294 PRSS3 AU synonymous SNV NM_001197098 exon2 c.A156G p.V52V 0.0071 0.0055 Uncertain 9_33796785_C->G 9 33796785 33796785 C G snp 604.77 0/1 99 244 190 54 0.22 exonic rs199600414 PRSS3 AU nonsynonymous SNV NM_001197098 exon2 c.C164G p.A55G 0.0053 0.0054 0.06 T 1.000 D 0.870 D 0.112 T 0.248 T Pathogenic 9_33796799_A->T 9 33796799 33796799 A T snp 1385.77 0/1 99 241 153 88 0.37 exonic rs200709040 PRSS3 AU nonsynonymous SNV NM_001197098 exon2 c.A178T p.T60S 0.0626 0.0634 1 T 1.000 N -0.833 T 0.0 T 0.0 T ID=COSM4138933,COSM4138932,COSM4138931;OCCURENCE=1(kidney),2(thyroid) Pathogenic 9_33796811_G->A 9 33796811 33796811 G A snp 252.77 0/1 99 242 211 31 0.13 intronic rs200466488 PRSS3 AU NM_001197097 exon3 c.2011+11G>A 6.603e-05 0.0001 Uncertain 9_33796827_G->A 9 33796827 33796827 G A snp 655.77 0/1 99 220 166 54 0.25 intronic rs375097863 PRSS3 AU NM_001197097 exon3 c.2011+27G>A 0.2296 0.2291 Uncertain 9_33796858_C->A 9 33796858 33796858 C A snp 757.77 0/1 99 142 97 45 0.32 intronic rs369633136 PRSS3 AU NM_001197097 exon3 c.2011+58C>A Uncertain 9_33796889_A->G 9 33796889 33796889 A G snp 664.77 0/1 99 67 38 29 0.43 intronic rs772011134 PRSS3 AU NM_001197097 exon3 c.2011+89A>G Uncertain 9_33796896_T->C 9 33796896 33796896 T C snp 478.77 0/1 99 51 33 18 0.35 intronic PRSS3 AU NM_001197097 exon3 c.2011+96T>C Uncertain 9_33796898_G->A 9 33796898 33796898 G A snp 477.77 0/1 99 50 32 18 0.36 intronic PRSS3 AU NM_001197097 exon3 c.2011+98G>A Uncertain 9_33796904_G->A 9 33796904 33796904 G A snp 415.77 0/1 99 43 28 15 0.35 intronic PRSS3 AU NM_001197097 exon3 c.2011+104G>A Uncertain 9_33796912_A->G 9 33796912 33796912 A G snp 778.77 0/1 99 34 12 22 0.65 intronic rs855580 PRSS3 AU NM_001197097 exon3 c.2011+112A>G 0.938099 0.8988 Uncertain 9_33796927_A->G 9 33796927 33796927 A G snp 126.77 0/1 99 17 12 5 0.29 intronic PRSS3 AU NM_001197097 exon3 c.2011+127A>G Uncertain 9_33797761_G->A 9 33797761 33797761 G A snp 232.77 1/1 18 7 0 7 1.0 intronic rs83922 PRSS3 AU NM_001197097 exon4 c.3037-65G>A 0.618211 0.8214 Uncertain 9_33797783_A->T 9 33797783 33797783 A T snp 55.77 0/1 84 27 20 7 0.26 intronic rs371972822 PRSS3 AU NM_001197097 exon4 c.3037-43A>T 0.1188 0.1892 Uncertain 9_33797861_A->G 9 33797861 33797861 A G snp 1061.77 0/1 99 204 152 52 0.25 exonic rs151192741 PRSS3 AU nonsynonymous SNV NM_001197098 exon3 c.A214G p.K72E 0.0605 0.0835 0.96 T 1 N -0.719 T 0.0 T 0.001 T ID=COSM4163775,COSM4163774,COSM4163773;OCCURENCE=4(thyroid) Pathogenic 9_33797881_G->A 9 33797881 33797881 G A snp 1709.77 0/1 99 250 175 75 0.3 exonic rs372122039 PRSS3 AU synonymous SNV NM_001197098 exon3 c.G234A p.E78E 0.0238 0.0362 ID=COSM4163776,COSM4163777,COSM4163778;OCCURENCE=4(thyroid) Uncertain 9_33797917_T->C 9 33797917 33797917 T C snp 1954.77 0/1 99 248 164 84 0.34 exonic rs748922801 PRSS3 AU synonymous SNV NM_001197098 exon3 c.T270C p.P90P 0.0002 0 ID=COSM4163781,COSM4163780,COSM4163779;OCCURENCE=1(thyroid) Uncertain 9_33797929_G->C 9 33797929 33797929 G C snp 53.77 0/1 82 243 222 21 0.09 exonic PRSS3 AU nonsynonymous SNV NM_001197098 exon3 c.G282C p.R94S 1 T 1 N -0.678 T 0.0 T 0.002 T Pathogenic 9_33797930_G->C 9 33797930 33797930 G C snp 59.77 0/1 88 243 222 21 0.09 exonic PRSS3 AU nonsynonymous SNV NM_001197098 exon3 c.G283C p.D95H 0.28 T 1 N -0.636 T 0.238 T 0.067 T Pathogenic 9_33797951_A->C 9 33797951 33797951 A C snp 1811.77 0/1 99 248 172 76 0.31 exonic rs150316320 PRSS3 AU nonsynonymous SNV NM_001197098 exon3 c.A304C p.M102L 9.18e-05 0 0.06 T 0.995 D -0.601 T 0.051 T 0.113 T Pathogenic 9_33797962_A->G 9 33797962 33797962 A G snp 1808.77 0/1 99 249 171 78 0.31 exonic rs374178684 PRSS3 AU synonymous SNV NM_001197098 exon3 c.A315G p.K105K 0.0004 0.0001 Uncertain 9_33797987_G->T 9 33797987 33797987 G T snp 1710.77 0/1 99 249 166 83 0.33 exonic rs137945391 PRSS3 AU nonsynonymous SNV NM_001197098 exon3 c.G340T p.A114S 0.0013 0.0011 1 T 1 N -0.515 T 0.0 T 0.004 T Pathogenic 9_33797999_A->G 9 33797999 33797999 A G snp 1849.77 0/1 99 247 164 83 0.34 exonic rs142141488 PRSS3 AU nonsynonymous SNV NM_001197098 exon3 c.A352G p.T118A 0.0011 0.0006 0.13 T 0.994 N -0.710 T 0.001 T 0.006 T Pathogenic 9_33798016_C->T 9 33798016 33798016 C T snp 1675.77 0/1 99 233 157 76 0.33 exonic rs764430438 PRSS3 AU synonymous SNV NM_001197098 exon3 c.C369T p.T123T 0.0002 0.0003 Uncertain 9_33798017_A->G 9 33798017 33798017 A G snp 6574.77 1/1 99 232 0 232 1.0 exonic rs855581 PRSS3 AU nonsynonymous SNV NM_001197098 exon3 c.A370G p.T124A 0.991414 1 0.9186 0.9773 0.43 T 0.0 P -0.856 T 0.0 T 0.002 T Pathogenic 9_33798037_T->C 9 33798037 33798037 T C snp 1461.77 0/1 99 213 146 67 0.31 exonic rs774408268 PRSS3 AU synonymous SNV NM_001197098 exon3 c.T390C p.T130T 0.0080 0.0093 Uncertain 9_33798042_G->C 9 33798042 33798042 G C snp 1406.77 0/1 99 209 142 67 0.32 exonic rs141382822 PRSS3 AU nonsynonymous SNV NM_001197098 exon3 c.G395C p.C132S 0.0085 0.0093 0.02 T 0.998 D 0.770 D 0.852 T 0.933 P Pathogenic 9_33798073_C->T 9 33798073 33798073 C T snp 866.77 0/1 99 131 94 37 0.28 exonic rs747749652 PRSS3 AU synonymous SNV NM_001197098 exon3 c.C426T p.S142S 0.2969 0.1912 ID=COSM4163784,COSM4163785,COSM4163783;OCCURENCE=4(thyroid) Uncertain 9_33798075_T->C 9 33798075 33798075 T C snp 810.77 0/1 99 126 89 37 0.29 exonic rs776325628 PRSS3 AU nonsynonymous SNV NM_001197098 exon3 c.T428C p.F143S 0.2982 0.1918 1 T 0.983 D -0.502 T 0.001 T 0.001 T Pathogenic 9_33798112_C->T 9 33798112 33798112 C T snp 400.77 0/1 99 46 32 14 0.3 intronic rs766353179 PRSS3 AU NM_001197097 exon4 c.3291+32C>T 0.1082 0.0414 Uncertain 9_33798119_T->- 9 33798119 33798119 T - indel 314.73 0/1 99 36 24 12 0.33 intronic rs368896249 PRSS3 AU NM_001197097 exon4 c.3291+39delT 0.0209 0.0108 Uncertain 9_33798135_G->A 9 33798135 33798135 G A snp 88.77 0/1 99 16 12 4 0.25 intronic PRSS3 AU NM_001197097 exon4 c.3291+55G>A Uncertain 9_33798138_G->C 9 33798138 33798138 G C snp 54.77 0/1 83 14 11 3 0.21 intronic PRSS3 AU NM_001197097 exon4 c.3291+58G>C Uncertain 9_33798529_C->G 9 33798529 33798529 C G snp 164.77 0/1 99 199 180 19 0.1 exonic rs1063273 PRSS3 AU nonsynonymous SNV NM_001197098 exon4 c.C479G p.T160S 0.0003 0.0008 1 T 1 N -0.587 T 0.0 T 0.001 T Pathogenic 9_33798543_A->G 9 33798543 33798543 A G snp 316.77 0/1 99 201 176 25 0.12 exonic rs200731425 PRSS3 AU nonsynonymous SNV NM_001197098 exon4 c.A493G p.K165E 0.0005 0.0012 1 T 1 N -0.762 T 0.0 T 0.002 T ID=COSM4138934,COSM4138936,COSM4138935;OCCURENCE=1(thyroid),1(kidney) Pathogenic 9_33798574_G->A 9 33798574 33798574 G A snp 398.77 0/1 99 172 146 26 0.15 exonic rs201773718 PRSS3 AU nonsynonymous SNV NM_001197098 exon4 c.G524A p.S175N 0.4255 0.4619 1 T 0.993 N -0.695 T 0.0 T 0.002 T ID=COSM3774381,COSM3774380,COSM3774382;OCCURENCE=1(kidney),4(thyroid) Pathogenic 9_33798596_T->C 9 33798596 33798596 T C snp 442.77 0/1 99 129 103 26 0.2 exonic rs377148991 PRSS3 AU synonymous SNV NM_001197098 exon4 c.T546C p.L182L 0.4546 0.4762 ID=COSM4163786,COSM4163788,COSM4163787;OCCURENCE=1(thyroid) Uncertain 9_33798633_T->C 9 33798633 33798633 T C snp 487.77 0/1 99 95 68 27 0.28 intronic rs370619518 PRSS3 AU NM_001197097 exon5 c.3831+13T>C 0.3791 0.4192 Uncertain 9_33798655_C->T 9 33798655 33798655 C T snp 358.77 0/1 99 67 50 17 0.25 intronic rs745975421 PRSS3 AU NM_001197097 exon5 c.3831+35C>T 0.3418 0.3830 Uncertain 9_33798660_C->A 9 33798660 33798660 C A snp 368.77 0/1 99 62 46 16 0.26 intronic rs749183663 PRSS3 AU NM_001197097 exon5 c.3831+40C>A 0.3296 0.3716 Uncertain 9_33798673_G->A 9 33798673 33798673 G A snp 230.77 0/1 99 36 27 9 0.25 intronic PRSS3 AU NM_001197097 exon5 c.3831+53G>A Uncertain 9_33798681_A->T 9 33798681 33798681 A T snp 158.77 0/1 99 24 17 7 0.29 intronic PRSS3 AU NM_001197097 exon5 c.3831+61A>T Uncertain 9_33799267_C->T 9 33799267 33799267 C T snp 56.77 0/1 85 61 52 9 0.15 downstream PRSS3 AU Uncertain 9_33799285_T->C 9 33799285 33799285 T C snp 40.77 0/1 69 51 44 7 0.14 downstream rs369146161 PRSS3 AU Uncertain 9_33799304_G->C 9 33799304 33799304 G C snp 61.77 0/1 90 30 24 6 0.2 downstream PRSS3 AU Uncertain 9_33927899_G->A 9 33927899 33927899 G A snp 3625.77 1/1 99 143 1 142 0.99 exonic rs307692 UBAP2 AU nonsynonymous SNV NM_018449 exon20 c.C2267T p.A756V 0.996605 1 0.997155 0.9992 1 1 T 0.0 P -1.039 T 0.0 T 0.001 T Pathogenic 9_33935736_A->G 9 33935736 33935736 A G snp 1974.77 0/1 99 193 105 88 0.46 intronic rs307652 UBAP2 AU NM_018449 exon13 c.13335-100A>G 0.65016 0.7321 0.6306 0.7419 ID=COSM3848372;OCCURENCE=1(breast) Uncertain 9_33948652_T->C 9 33948652 33948652 T C snp 270.77 0/1 99 17 7 10 0.59 intronic rs307654 UBAP2 AU NM_018449 exon17 c.26084+67T>C 0.65615 0.7857 Uncertain 9_33952629_T->C 9 33952629 33952629 T C snp 95.77 0/1 99 12 8 4 0.33 intronic rs16935299 UBAP2 AU NM_018449 exon18 c.30781-653T>C 0.27496 0.6121 Uncertain 9_33969352_T->C 9 33969352 33969352 T C snp 780.77 0/1 99 70 34 36 0.51 intronic rs307675 UBAP2 AU NM_018449 exon22 c.49147-2296T>C 0.64397 0.7351 Uncertain 9_33971740_A->G 9 33971740 33971740 A G snp 2917.77 0/1 99 222 104 118 0.53 exonic rs3739690 UBAP2 AU synonymous SNV NM_018449 exon8 c.T588C p.P196P 0.284944 0.6101 0.182147 0.2438 0.6047 Uncertain 9_34011803_C->G 9 34011803 34011803 C G snp 2145.77 1/1 99 72 0 72 1.0 intronic rs7029112 UBAP2 AU NM_018449 exon28 c.94546-5244C>G 0.779752 0.8363 Uncertain 9_34011835_C->T 9 34011835 34011835 C T snp 1004.77 1/1 75 26 0 26 1.0 intronic rs7029122 UBAP2 AU NM_018449 exon28 c.94546-5212C>T 0.939497 0.9038 Uncertain 9_34017015_-->A 9 34017015 34017015 - A indel 998.73 1/1 99 46 1 45 0.98 intronic rs11432780 UBAP2 AU NM_018449 exon28 c.94546-32insA 0.453075 0.5327 0.4513 0.5166 Uncertain 9_34017106_C->T 9 34017106 34017106 C T snp 3493.77 1/1 99 131 0 131 1.0 exonic rs1785506 UBAP2 AU nonsynonymous SNV NM_018449 exon2 c.G41A p.R14Q 0.628994 0.8274 0.588651 0.6260 0.8295 0.34 T 1.000 P -1.060 T 0.999 D 0.889 D ID=CM143921;DIS=Hypoxia tolerance, association with;TAG=DP;PUB=24555826 DP Pathogenic 9_34089395_T->C 9 34089395 34089395 T C snp 792.77 0/1 99 70 35 35 0.5 intronic rs2296897 DCAF12 AU NM_015397 exon2 c.1062-14T>C 0.267971 0.2212 0.300861 0.3340 0.2349 Uncertain 9_34093274_G->C 9 34093274 34093274 G C snp 442.77 0/1 99 49 30 19 0.39 intronic rs16935392 DCAF12 AU NM_015397 exon3 c.4936-9G>C 0.211861 0.2133 0.215131 0.2265 0.2306 Uncertain 9_34096597_G->A 9 34096597 34096597 G A snp 205.77 0/1 99 13 6 7 0.54 intronic rs7857551 DCAF12 AU NM_015397 exon4 c.8366-116G>A 0.598442 0.2946 Uncertain 9_34096873_T->C 9 34096873 34096873 T C snp 1091.77 0/1 99 76 33 43 0.57 intronic rs10971910 DCAF12 AU NM_015397 exon4 c.8432+94T>C 0.268171 0.2202 Uncertain 9_34106410_C->T 9 34106410 34106410 C T snp 1003.77 0/1 99 91 47 44 0.48 intronic rs10971917 DCAF12 AU NM_015397 exon6 c.18084-21C>T 0.211861 0.2123 0.214209 0.2733 0.2663 Uncertain 9_34107505_C->T 9 34107505 34107505 C T snp 692.77 0/1 99 47 16 31 0.66 exonic rs11557154 DCAF12 AU nonsynonymous SNV NM_015397 exon3 c.G392A p.R131Q 0.227037 0.6012 0.093418 0.1804 0.5927 0.26 T 1.000 P -0.917 T 0.994 D 0.545 D Pathogenic 9_34211942_T->C 9 34211942 34211942 T C snp 849.77 1/1 60 33 0 33 1.0 intronic rs1556439 UBAP1 AU NM_001171202 exon2 c.41893-8963T>C 0.792332 0.9633 0.8234 0.9588 Uncertain 9_34242242_G->A 9 34242242 34242242 G A snp 450.77 0/1 99 36 18 18 0.5 intronic rs7857658 UBAP1 AU NM_016525 exon4 c.21194+136G>A 0.434305 0.7351 Uncertain 9_34255267_G->A 9 34255267 34255267 G A snp 387.77 0/1 99 33 17 16 0.48 intronic rs35693912 KIF24 AU NM_194313 exon2 c.786+104G>A 0.15615 0.0526 Uncertain 9_34256347_C->T 9 34256347 34256347 C T snp 2716.77 0/1 99 231 120 111 0.48 exonic rs10814083 KIF24 AU synonymous SNV NM_194313 exon11 c.G3258A p.G1086G 0.440096 0.7351 0.320006 0.4001 0.7409 0.2 T 0.000 P -0.954 T ID=COSM3763898,COSM3763899;OCCURENCE=1(thyroid),1(large_intestine) Likely benign 9_34257095_G->A 9 34257095 34257095 G A snp 1472.77 0/1 99 129 65 64 0.5 exonic rs41274041 KIF24 AU nonsynonymous SNV NM_194313 exon11 c.C2510T p.S837F 0.134984 0.0516 0.158081 0.1784 0.0518 0.07 T 0.0 P -1.112 T 0.999 D 0.956 D ID=COSM3763902,COSM3763903;OCCURENCE=1(large_intestine) Pathogenic 9_34263412_C->G 9 34263412 34263412 C G snp 90.28 1/1 9 3 0 3 1.0 intronic rs10814085 KIF24 AU NM_194313 exon5 c.8793+242C>G 0.732228 0.9613 Uncertain 9_34286486_G->T 9 34286486 34286486 G T snp 227.84 1/1 18 7 0 7 1.0 intronic rs6476442 KIF24 AU NM_194313 exon8 c.32237-128G>T 0.715056 0.9276 Uncertain 9_34306571_T->C 9 34306571 34306571 T C snp 377.77 1/1 30 10 0 10 1.0 intronic rs7032930 KIF24 AU NM_194313 exon11 c.52062+132T>C 0.783946 0.9623 Uncertain 9_34310927_T->C 9 34310927 34310927 T C snp 3105.77 0/1 99 250 134 116 0.46 exonic rs10972048 KIF24 AU nonsynonymous SNV NM_194313 exon2 c.A418G p.M140V 0.410942 0.3353 0.484675 0.5442 0.3306 0.3 T 0.0 P -0.935 T 0.002 T 0.002 T Pathogenic 9_34370702_G->- 9 34370702 34370702 G - indel 1334.73 1/1 99 34 0 34 1.0 UTR3 rs398096380 KIAA1161 AU Uncertain 9_34371788_A->T 9 34371788 34371788 A T snp 2901.77 0/1 99 250 135 115 0.46 exonic rs7852399 KIAA1161 AU unknown 0.325679 0.5893 0.202222 0.2336 0.5832 0 D 1.000 P -0.866 T 0.998 D 0.954 D Uncertain 9_34372783_G->C 9 34372783 34372783 G C snp 3530.77 1/1 99 128 0 128 1.0 exonic rs4879781 KIAA1161 AU unknown 0.936302 0.9663 0.947035 0.9681 0.9491 1 T 0.000 P -0.946 T 0.0 T 0.0 T ID=COSM4163804;OCCURENCE=1(thyroid) Uncertain 9_34372873_C->G 9 34372873 34372873 C G snp 3187.75 1/1 99 117 0 117 1.0 exonic rs4879782 KIAA1161 AU unknown 0.796126 0.9593 0.748981 0.7939 0.9467 Uncertain 9_34372931_T->A 9 34372931 34372931 T A snp 1141.77 0/1 99 83 34 49 0.59 exonic rs2297776 KIAA1161 AU unknown 0.142372 0.0933 0.158484 0.1829 0.0881 Uncertain 9_34379692_C->T 9 34379692 34379692 C T snp 2881.77 0/1 99 240 119 121 0.5 exonic rs3737242 C9orf24 AU nonsynonymous SNV NM_147169 exon3 c.G182A p.C61Y 0.141573 0.0942 0.158004 0.1805 0.0880 0.39 T 0.906 P -1.086 T 0.008 T 0.018 T ID=COSM3763905,COSM3763904;OCCURENCE=1(large_intestine) Pathogenic 9_34381192_C->A 9 34381192 34381192 C A snp 283.77 0/1 99 27 17 10 0.37 intronic rs3753033 C9orf24 AU NM_032596 exon3 c.1486+63C>A 0.23103 0.3849 Uncertain 9_34382726_A->G 9 34382726 34382726 A G snp 549.77 0/1 99 66 41 25 0.38 intronic rs3808876 C9orf24 AU NM_032596 exon5 c.3108-25A>G 0.599641 0.8621 0.530217 0.5976 0.8574 Uncertain 9_34401764_T->C 9 34401764 34401764 T C snp 844.77 1/1 60 31 0 31 1.0 intronic rs2275262 FAM219A AU NM_001184940 exon2 c.757+46T>C 0.0549121 0.13 0.012013 0.0266 0.1381 Uncertain 9_34402173_A->G 9 34402173 34402173 A G snp 559.77 1/1 45 17 0 17 1.0 intronic rs10738926 FAM219A AU NM_001184940 exon3 c.1423-211A>G 0.995008 1 Uncertain 9_34407204_T->C 9 34407204 34407204 T C snp 2518.77 1/1 99 97 0 97 1.0 intronic rs10119711 FAM219A AU NM_001184940 exon5 c.5001+1242T>C 0.348442 0.249 Uncertain 9_34407310_T->C 9 34407310 34407310 T C snp 505.77 1/1 39 16 0 16 1.0 intronic rs78931291 FAM219A AU NM_001184940 exon5 c.5001+1348T>C 0.0547125 0.13 Uncertain 9_34407331_G->A 9 34407331 34407331 G A snp 618.77 1/1 48 20 0 20 1.0 intronic rs10972095 FAM219A AU NM_001184940 exon5 c.5001+1369G>A 0.348442 0.249 Uncertain 9_34407423_C->T 9 34407423 34407423 C T snp 1851.77 1/1 99 74 0 74 1.0 intronic rs10116555 FAM219A AU NM_001184940 exon5 c.5001+1461C>T 0.216853 0.1399 Uncertain 9_34407572_G->C 9 34407572 34407572 G C snp 1019.77 1/1 75 34 0 34 1.0 intronic rs7847950 FAM219A AU NM_001184940 exon5 c.5001+1610G>C 0.348243 0.249 Uncertain 9_34458378_C->G 9 34458378 34458378 C G snp 35.77 0/1 64 8 5 3 0.38 UTR5 rs10972126 FAM219A AU 0.0491214 0.1121 Uncertain 9_34458826_G->C 9 34458826 34458826 G C snp 269.77 0/1 99 17 8 9 0.53 UTR5 rs3802429 DNAI1 AR 0.0489217 0.1121 Uncertain 9_34459124_C->T 9 34459124 34459124 C T snp 1464.77 0/1 99 90 25 65 0.72 intronic rs549925663 DNAI1 AR NM_012144 exon1 c.48+73C>T 0.000199681 0.001 Uncertain 9_34486212_C->G 9 34486212 34486212 C G snp 713.77 0/1 99 74 40 34 0.46 intronic rs59665516 DNAI1 AR NM_012144 exon4 c.26512+697C>G 0.0467252 0.1131 Uncertain 9_34487782_C->T 9 34487782 34487782 C T snp 132.77 0/1 99 11 5 6 0.55 intronic rs4878572 DNAI1 AR NM_012144 exon5 c.30317-1538C>T 0.529553 0.4722 Uncertain 9_34489437_A->G 9 34489437 34489437 A G snp 202.77 0/1 99 41 29 12 0.29 exonic rs3818577 DNAI1 AR synonymous SNV NM_012144 exon5 c.A378G p.E126E 0.0501198 0.1131 0.014070 0.0304 0.1360 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000150493.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 9_34490277_G->A 9 34490277 34490277 G A snp 650.77 0/1 99 41 16 25 0.61 intronic rs2274589 DNAI1 AR NM_012144 exon7 c.31363-89G>A 0.0501198 0.1131 Uncertain 9_34500610_T->C 9 34500610 34500610 T C snp 343.77 0/1 99 31 16 15 0.48 intronic rs10972138 DNAI1 AR NM_012144 exon11 c.41716-109T>C 0.0469249 0.1141 Uncertain 9_34512393_T->G 9 34512393 34512393 T G snp 1944.77 0/1 99 157 76 81 0.52 exonic rs11999454 DNAI1 AR nonsynonymous SNV NM_012144 exon15 c.T1460G p.V487G 0.0555112 0.1141 0.021605 0.0329 0.1348 0.5 T 1.000 N -1.097 T 0.0 T 0.0 T CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000150496.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 9_34521148_G->A 9 34521148 34521148 G A snp 93.28 1/1 9 3 0 3 1.0 UTR3 rs1111375 ENHO AU 0.994209 1 Uncertain 9_34552437_C->T 9 34552437 34552437 C T snp 50.74 1/1 6 2 0 2 1.0 intronic rs2274592 CNTFR AU NM_001842 exon2 c.259+110C>T 0.530751 0.5694 Uncertain 9_34569010_T->A 9 34569010 34569010 T A snp 901.77 1/1 66 35 0 35 1.0 ncRNA_intronic rs9695558 CNTFR-AS1 AU 0.952875 0.9891 0.947123 0.9645 0.9943 Uncertain 9_34618641_C->T 9 34618641 34618641 C T snp 61.77 0/1 90 16 12 4 0.25 intronic rs3802427 DCTN3 AU NM_007234 exon6 c.4894-31C>T 0.222045 0.3115 0.177226 0.1929 0.3283 Uncertain 9_34622389_A->C 9 34622389 34622389 A C snp 1300.77 0/1 99 97 43 54 0.56 exonic rs3808869 ARID3C AU nonsynonymous SNV NM_001017363 exon5 c.T1003G p.C335G 0.602436 0.4802 0.584423 0.5532 0.4837 0.74 T 0.0 P -1.008 T 0.0 T 0.0 T ID=COSM3763907;OCCURENCE=1(large_intestine) Pathogenic 9_34623718_G->A 9 34623718 34623718 G A snp 1364.77 0/1 99 113 62 51 0.45 intronic rs10814129 ARID3C AU NM_001017363 exon4 c.2257+7G>A 0.219249 0.3105 0.161614 0.2731 0.4009 Uncertain 9_34635598_T->C 9 34635598 34635598 T C snp 1375.77 1/1 99 50 0 50 1.0 UTR3 rs4879809 SIGMAR1 AR 0.98742 1 0.986545 0.9949 1 ID=CR157758;DIS=Amyotrophic lateral sclerosis;TAG=DM?;PUB=26205306 DM? Uncertain 9_34637690_T->G 9 34637690 34637690 T G snp 817.77 0/1 99 56 24 32 0.57 exonic rs1800866 SIGMAR1 AR nonsynonymous SNV NM_005866 exon1 c.A5C p.Q2P 0.217252 0.3204 0.122083 0.1840 0.3851 0.41 T 0.009 P -0.955 T 0.0 T 0.0 T ID=CM116546;DIS=Schizophrenia, association with;TAG=DP;PUB=21549171 DP Pathogenic 9_34648480_C->T 9 34648480 34648480 C T snp 1238.77 0/1 99 114 53 61 0.54 intronic rs545007743 GALT AR NM_000155 exon7 c.1752+27C>T 0.000199681 0.001 0.0001 0.0020 Uncertain 9_34650279_-->A 9 34650279 34650279 - A indel 61.74 0/1 25 11 3 8 0.73 intronic rs557858289 GALT AR NM_000155 exon11 c.3664-86insA 0.558107 0.5843 Uncertain 9_34655436_T->C 9 34655436 34655436 T C snp 73.77 0/1 99 10 6 4 0.4 intronic rs2812357 IL11RA AR NM_001142784 exon2 c.100+122T>C 0.567292 0.5258 Uncertain 9_34655734_G->T 9 34655734 34655734 G T snp 577.77 0/1 99 43 20 23 0.53 intronic rs11575576 IL11RA AR NM_001142784 exon3 c.448+72G>T 0.350439 0.5069 0.371003 Uncertain 9_34657663_T->C 9 34657663 34657663 T C snp 503.77 1/1 39 14 0 14 1.0 intronic rs1104748 IL11RA AR NM_001142784 exon7 c.2370+79T>C 0.783946 0.8492 Uncertain 9_34691190_G->A 9 34691190 34691190 G A snp 563.77 0/1 99 32 10 22 0.69 UTR5 CCL19 AU Uncertain 9_34723181_G->A 9 34723181 34723181 G A snp 285.77 0/1 99 25 13 12 0.48 UTR3 rs2297132 FAM205A AU 0.394369 0.5923 0.375383 0.4449 0.6258 Uncertain 9_34723744_C->A 9 34723744 34723744 C A snp 1002.77 0/1 99 79 41 38 0.48 exonic rs4878588 FAM205A AU nonsynonymous SNV NM_001141917 exon4 c.G3493T p.A1165S 0.401358 0.6181 0.373631 0.4610 0.6415 0.15 T 0.0 P -0.925 T 0.1 T 0.056 T Pathogenic 9_34723935_C->T 9 34723935 34723935 C T snp 1291.77 0/1 99 102 46 56 0.55 exonic rs2297134 FAM205A AU nonsynonymous SNV NM_001141917 exon4 c.G3302A p.R1101H 0.401757 0.6181 0.4619 0.6383 0.5 T 0.0 P -0.927 T 0.0 T 0.001 T ID=COSM3848423,COSM3848422;OCCURENCE=1(breast) Pathogenic 9_34724059_G->A 9 34724059 34724059 G A snp 306.77 0/1 99 46 31 15 0.33 exonic rs117821239 FAM205A AU nonsynonymous SNV NM_001141917 exon4 c.C3178T p.H1060Y 0.400958 0.6171 0.2691 0.5575 0.95 T 0.0 P -1.063 T 0.667 T 0.155 P ID=COSM3982841,COSM3982842;OCCURENCE=1(thyroid) Pathogenic 9_34724241_C->A 9 34724241 34724241 C A snp 2141.77 0/1 99 169 78 91 0.54 exonic rs3739881 FAM205A AU nonsynonymous SNV NM_001141917 exon4 c.G2996T p.S999I 0.401757 0.6181 0.374945 0.4611 0.6410 0.17 T 0.0 P -0.949 T 0.618 T 0.234 P ID=COSM3982844,COSM3982843;OCCURENCE=1(thyroid) Pathogenic 9_34724786_G->A 9 34724786 34724786 G A snp 2606.77 0/1 99 250 136 114 0.46 exonic rs72617336 FAM205A AU synonymous SNV NM_001141917 exon4 c.C2451T p.P817P 0.399561 0.6171 0.371003 0.4564 0.6347 Uncertain 9_34724796_T->A 9 34724796 34724796 T A snp 2366.77 0/1 99 250 142 108 0.43 exonic rs150496452 FAM205A AU nonsynonymous SNV NM_001141917 exon4 c.A2441T p.E814V 0.402955 0.6181 0.372974 0.4687 0.6347 1 T 0.0 P -0.914 T 0.0 T 0.0 T Pathogenic 9_34724832_G->A 9 34724832 34724832 G A snp 2343.77 0/1 99 250 141 109 0.44 exonic rs549471393 FAM205A AU nonsynonymous SNV NM_001141917 exon4 c.C2405T p.P802L 0.033746 0.1607 0.0076 0.1667 0.07 T 1 N -0.901 T 1.0 D 0.986 D Pathogenic 9_34724987_A->G 9 34724987 34724987 A G snp 235.77 0/1 99 250 185 65 0.26 exonic rs1697617 FAM205A AU synonymous SNV NM_001141917 exon4 c.T2250C p.A750A 0.2321 0.3077 ID=COSM4007176,COSM4007177;OCCURENCE=1(thyroid),2(urinary_tract) Uncertain 9_34725047_C->T 9 34725047 34725047 C T snp 1514.77 0/1 99 250 184 66 0.26 exonic rs78716275 FAM205A AU synonymous SNV NM_001141917 exon4 c.G2190A p.P730P 0.3679 0.4365 Uncertain 9_34725069_T->A 9 34725069 34725069 T A snp 1548.77 0/1 99 247 144 103 0.42 exonic rs114933270 FAM205A AU nonsynonymous SNV NM_001141917 exon4 c.A2168T p.E723V 0.3632 0.4242 0.05 T 1 N -0.986 T 0.0 T 0.002 T ID=COSM3782242,COSM3782241;OCCURENCE=2(thyroid),1(pancreas) Pathogenic 9_34725368_A->G 9 34725368 34725368 A G snp 332.77 1/1 33 34 0 34 1.0 exonic rs151104708 FAM205A AU synonymous SNV NM_001141917 exon4 c.T1869C p.D623D 0.994209 1 0.9613 1 ID=COSM4163806,COSM4163807;OCCURENCE=2(thyroid) Uncertain 9_34725742_T->C 9 34725742 34725742 T C snp 6271.77 1/1 99 250 0 250 1.0 exonic rs62547039 FAM205A AU nonsynonymous SNV NM_001141917 exon4 c.A1495G p.M499V 0.655351 0.6994 0.7163 0.7186 0.78 T 0.0 P -0.918 T 0.0 T 0.0 T ID=COSM4163808,COSM4163809;OCCURENCE=1(thyroid) Pathogenic 9_34726155_C->T 9 34726155 34726155 C T snp 128.77 0/1 75 32 10 22 0.69 exonic rs76045500 FAM205A AU nonsynonymous SNV NM_001141917 exon4 c.G1082A p.C361Y 0.11901 0.0367 0.0528 0.0247 1 T 0.0 P -1.062 T 0.852 T 0.272 P Pathogenic 9_34726182_A->G 9 34726182 34726182 A G snp 230.8 1/1 21 33 0 33 1.0 exonic rs521630 FAM205A AU nonsynonymous SNV NM_001141917 exon4 c.T1055C p.F352S 0.476038 0.5188 0.3886 0.1901 0.25 T 0.0 P -0.906 T 0.444 T 0.098 T Pathogenic 9_34726187_A->G 9 34726187 34726187 A G snp 343.77 1/1 30 37 0 37 1.0 exonic rs521611 FAM205A AU synonymous SNV NM_001141917 exon4 c.T1050C p.H350H 0.0307 0.0058 ID=COSM4163810,COSM4163811;OCCURENCE=1(thyroid) Uncertain 9_34726202_A->G 9 34726202 34726202 A G snp 50.77 0/1 79 47 42 5 0.11 exonic rs564617921 FAM205A AU synonymous SNV NM_001141917 exon4 c.T1035C p.P345P 0.0607029 0.2688 0.0006 0.0197 Uncertain 9_34726204_G->A 9 34726204 34726204 G A snp 47.77 0/1 76 50 45 5 0.1 exonic rs521574 FAM205A AU nonsynonymous SNV NM_001141917 exon4 c.C1033T p.P345S 0.238818 0.4306 0.0077 0.0309 1 T 0.0 P -0.944 T 0.0 T 0.0 T ID=COSM3952674,COSM3952675;OCCURENCE=1(lung),2(thyroid) Pathogenic 9_34726418_T->C 9 34726418 34726418 T C snp 489.77 0/1 99 167 121 46 0.28 exonic rs2937382 FAM205A AU synonymous SNV NM_001141917 exon4 c.A819G p.P273P 0.23123 0.0813 0.2292 0.0744 Uncertain 9_34726524_G->A 9 34726524 34726524 G A snp 1162.77 0/1 99 106 44 62 0.58 exonic rs1810820 FAM205A AU nonsynonymous SNV NM_001141917 exon4 c.C713T p.T238M 0.230831 0.0813 0.238940 0.2379 0.0726 0.55 T 0.0 P -0.938 T 0.0 T 0.001 T Pathogenic 9_34727001_C->T 9 34727001 34727001 C T snp 2396.77 0/1 99 245 144 101 0.41 intronic rs12343844 FAM205A AU NM_001141917 exon1 c.3757+16C>T 0.0265575 0.0109 0.0362 0.0097 Uncertain 9_34727016_T->C 9 34727016 34727016 T C snp 2046.77 0/1 99 221 134 87 0.39 intronic rs12348612 FAM205A AU NM_001141917 exon1 c.3757+31T>C 0.105831 0.0109 0.0516 0.0037 Uncertain 9_34728065_G->A 9 34728065 34728065 G A snp 1006.77 0/1 99 78 33 45 0.58 exonic rs75766630 FAM205A AU nonsynonymous SNV NM_001141917 exon3 c.C205T p.R69W 0.0541134 0.0109 0.051029 0.0379 0.0097 0.09 T 1 N -1.023 T 0.001 T 0.001 T Pathogenic 9_34729392_A->G 9 34729392 34729392 A G snp 637.77 0/1 99 37 15 22 0.59 exonic rs12337278 FAM205A AU synonymous SNV NM_001141917 exon1 c.T33C p.V11V 0.105831 0.0109 0.100964 0.0550 0.0097 Uncertain 9_34729434_T->C 9 34729434 34729434 T C snp 378.77 0/1 99 16 5 11 0.69 UTR5 rs12351380 FAM205A AU 0.104633 0.0109 0.067236 0.0552 0.0097 Uncertain 9_34729452_A->G 9 34729452 34729452 A G snp 181.9 1/1 15 5 0 5 1.0 UTR5 rs10115191 FAM205A AU 0.636981 0.6994 0.603154 0.6981 0.7201 Uncertain 9_34832919_C->T 9 34832919 34832919 C T snp 3268.77 1/1 99 127 2 125 0.98 ncRNA_exonic rs12377823 FAM205BP AU 0.550919 0.6696 Uncertain 9_34833081_C->- 9 34833081 34833081 C - indel 3089.73 0/1 99 98 21 77 0.79 ncRNA_exonic rs138460400 FAM205BP AU 0.46905 0.505 Uncertain 9_34834103_T->C 9 34834103 34834103 T C snp 1355.77 1/1 99 104 0 104 1.0 ncRNA_exonic rs200572923 FAM205BP AU 0.390575 0.5188 0.0314 0.1011 Uncertain 9_34834109_T->C 9 34834109 34834109 T C snp 1062.77 1/1 83 93 1 92 0.99 ncRNA_exonic rs201637043 FAM205BP AU 0.323283 0.3919 0.0120 0.1111 Uncertain 9_34834494_C->T 9 34834494 34834494 C T snp 1700.77 0/1 99 250 171 79 0.32 ncRNA_exonic rs3893071 FAM205BP AU 0.3528 0.4265 1 T 0.999 P -0.999 T 0.0 T 0.0 T Uncertain 9_34834604_C->T 9 34834604 34834604 C T snp 2695.77 0/1 99 220 93 127 0.58 ncRNA_exonic rs368650526 FAM205BP AU 0.0058 0.0699 Uncertain 9_34834880_A->C 9 34834880 34834880 A C snp 3037.77 1/1 99 107 0 107 1.0 ncRNA_exonic rs524512 FAM205BP AU 0.557308 0.6716 0.2595 0.5854 1 T 0.000 P -0.941 T 0.0 T 0.0 T Uncertain 9_34834937_A->G 9 34834937 34834937 A G snp 599.77 1/1 51 26 0 26 1.0 ncRNA_exonic rs202203144 FAM205BP AU 0.495208 0.5952 0.1495 0.3567 Uncertain 9_34835264_A->G 9 34835264 34835264 A G snp 1563.77 0/1 99 250 176 74 0.3 ncRNA_exonic rs76043566 FAM205BP AU 0.0509185 0.2083 0.0217 0.3063 Uncertain 9_34835273_A->C 9 34835273 34835273 A C snp 1540.77 0/1 99 250 155 95 0.38 ncRNA_exonic rs521552 FAM205BP AU 0.3899 0.4286 0.23 T 0.0 P -0.992 T 0.077 T 0.031 T Uncertain 9_34835861_C->G 9 34835861 34835861 C G snp 1581.77 1/1 99 52 0 52 1.0 ncRNA_exonic rs924566 FAM205BP AU 0.555711 0.6687 0.5015 0.6694 Uncertain 9_34836905_A->G 9 34836905 34836905 A G snp 710.77 1/1 54 18 0 18 1.0 ncRNA_intronic rs3802426 FAM205BP AU 0.563898 0.6687 Uncertain 9_34977759_C->T 9 34977759 34977759 C T snp 2612.77 1/1 99 92 0 92 1.0 intronic rs2297647 KIAA1045 AU NM_001304333 exon7 c.6343+121C>T 0.210264 0.2302 Uncertain 9_35043291_G->T 9 35043291 35043291 G T snp 5179.77 1/1 99 186 0 186 1.0 exonic rs615474 C9orf131 AU nonsynonymous SNV NM_001040410 exon2 c.G560T p.W187L 0.653954 0.4484 0.712210 0.7192 0.4610 1 T 0.0 P -0.984 T 0.0 T 0.0 T ID=COSM3982850;OCCURENCE=1(thyroid) Pathogenic 9_35044493_T->A 9 35044493 35044493 T A snp 3173.77 1/1 99 121 0 121 1.0 exonic rs2298312 C9orf131 AU nonsynonymous SNV NM_001040410 exon2 c.T1762A p.S588T 0.121406 0.3155 0.048132 0.0938 0.3380 0.19 T 0.0 P -0.931 T 0.844 T 0.366 P Pathogenic 9_35060746_A->G 9 35060746 35060746 A G snp 2586.77 1/1 99 94 0 94 1.0 intronic rs562381 VCP AU,AD NM_007126 exon6 c.3684-51A>G 0.691893 0.4563 0.742937 Uncertain 9_35060955_T->C 9 35060955 35060955 T C snp 3804.77 1/1 99 136 0 136 1.0 intronic rs2258240 VCP AU,AD NM_007126 exon6 c.3807+35T>C 0.701877 0.4563 0.761725 0.7461 0.4680 Uncertain 9_35061503_T->C 9 35061503 35061503 T C snp 1221.77 1/1 90 33 0 33 1.0 intronic rs2074549 VCP AU,AD NM_007126 exon8 c.4460-70T>C 0.123203 0.3194 Uncertain 9_35062972_C->T 9 35062972 35062972 C T snp 2989.77 1/1 99 102 0 102 1.0 splicing rs514492 VCP AU,AD NM_007126 exon11 c.5861-2C>T 0.701078 0.4534 0.759419 0.7442 0.4643 Pathogenic 9_35075738_G->C 9 35075738 35075738 G C snp 1506.77 0/1 99 83 17 66 0.8 exonic rs141147618 FANCG AU nonsynonymous SNV NM_004629 exon10 c.C1157G p.P386R 0.000199681 0.000308 0.0001 0.0005 0.36 T 1 N -1.011 T 0.0 T 0.001 T CLINSIG=untested;CLNDBN=not_specified;CLNREVSTAT=no_assertion_provided;CLNACC=RCV000121034.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 9_35077441_T->C 9 35077441 35077441 T C snp 3306.77 1/1 99 124 1 123 0.99 intronic rs554098 FANCG AU NM_004629 exon10 c.3292+45T>C 0.701478 0.4534 0.761879 0.7459 0.4653 Uncertain 9_35089048_A->C 9 35089048 35089048 A C snp 349.78 1/1 27 11 0 11 1.0 UTR3 rs556766 PIGO AR 0.984026 1 0.982316 0.9950 1 Uncertain 9_35089498_G->A 9 35089498 35089498 G A snp 1572.77 1/1 99 45 0 45 1.0 intronic rs10972310 PIGO AR NM_032634 exon2 c.359+51G>A 0.169529 0.501 0.055205 0.1155 0.5398 Uncertain 9_35090782_A->C 9 35090782 35090782 A C snp 477.77 1/1 36 16 0 16 1.0 intronic rs505297 PIGO AR NM_032634 exon4 c.1581+113A>C 0.740615 0.6389 Uncertain 9_35093020_T->C 9 35093020 35093020 T C snp 1525.77 1/1 99 45 0 45 1.0 intronic rs568300 PIGO AR NM_032634 exon6 c.3938-6T>C 0.474042 0.376 0.518991 0.5440 0.3770 Uncertain 9_35093849_G->A 9 35093849 35093849 G A snp 4546.77 1/1 99 177 0 177 1.0 intronic rs2240115 PIGO AR NM_032634 exon8 c.4809-48G>A 0.106629 0.3224 0.029755 0.0703 0.3442 Uncertain 9_35094373_G->A 9 35094373 35094373 G A snp 1237.77 1/1 87 47 0 47 1.0 intronic rs2240116 PIGO AR NM_032634 exon9 c.5268+17G>A 0.126198 0.3264 0.048670 0.0905 0.3500 Uncertain 9_35100002_T->C 9 35100002 35100002 T C snp 2808.77 1/1 99 103 0 103 1.0 UTR3 rs664357 STOML2 AU 0.983427 1 0.980932 0.9941 1 Uncertain 9_35100569_A->G 9 35100569 35100569 A G snp 432.74 0/1 6 16 2 14 0.88 intronic rs586017 STOML2 AU NM_013442 exon2 c.563-25A>G 0.696486 0.4603 0.762802 0.7563 0.4780 Uncertain 9_35101384_CA->- 9 35101384 35101385 CA - indel 3881.73 1/1 99 83 0 83 1.0 intronic rs34240345 STOML2 AU NM_013442 exon5 c.1391-38_1391-37delCA 0.628195 0.4563 0.690096 0.7237 0.4725 Uncertain 9_35101870_C->G 9 35101870 35101870 C G snp 3414.77 1/1 99 125 0 125 1.0 intronic rs693325 STOML2 AU NM_013442 exon7 c.1869-30C>G 0.666134 0.4583 0.730432 0.7360 0.4772 Uncertain 9_35105257_G->A 9 35105257 35105257 G A snp 1956.77 1/1 99 78 0 78 1.0 exonic rs7030595 FAM214B AU synonymous SNV NM_025182 exon9 c.C1578T p.T526T 0.194888 0.381 0.094726 0.1134 0.3837 Uncertain 9_35106987_C->T 9 35106987 35106987 C T snp 1433.77 1/1 99 53 0 53 1.0 intronic rs10972316 FAM214B AU NM_025182 exon6 c.1671+99C>T 0.135383 0.2609 Uncertain 9_35107858_C->T 9 35107858 35107858 C T snp 5199.77 1/1 99 175 0 175 1.0 exonic rs7039828 FAM214B AU synonymous SNV NM_025182 exon3 c.G414A p.S138S 0.983826 1 0.981470 0.9948 1 ID=COSM4163817;OCCURENCE=1(thyroid) Uncertain 9_35107914_G->C 9 35107914 35107914 G C snp 2059.77 0/1 99 148 66 82 0.55 exonic FAM214B AU nonsynonymous SNV NM_025182 exon3 c.C358G p.H120D 0.01 T 0.909 D -0.098 T 0.993 D 0.977 D Pathogenic 9_35237520_A->G 9 35237520 35237520 A G snp 161.78 0/1 24 7 1 6 0.86 intronic rs10972393 UNC13B AU NM_006377 exon5 c.75419-179A>G 0.138379 0.1171 Uncertain 9_35375069_A->G 9 35375069 35375069 A G snp 218.77 0/1 99 28 18 10 0.36 intronic rs3780730 UNC13B AU NM_006377 exon13 c.212843-54A>G 0.233227 0.3115 0.150460 Uncertain 9_35377772_G->C 9 35377772 35377772 G C snp 450.77 0/1 99 21 7 14 0.67 intronic rs2282001 UNC13B AU NM_006377 exon15 c.215412+80G>C 0.233626 0.3135 Uncertain 9_35380996_C->T 9 35380996 35380996 C T snp 183.77 0/1 99 46 33 13 0.28 intronic rs2282000 UNC13B AU NM_006377 exon18 c.218816-100C>T 0.127995 0.3016 Uncertain 9_35381504_C->T 9 35381504 35381504 C T snp 1579.77 0/1 99 146 71 75 0.51 intronic rs2281999 UNC13B AU NM_006377 exon19 c.219272-48C>T 0.433107 0.4494 0.374289 0.3520 0.4372 Uncertain 9_35400272_G->A 9 35400272 35400272 G A snp 730.77 0/1 99 54 26 28 0.52 intronic rs4878613 UNC13B AU NM_006377 exon36 c.238012-20G>A 0.233626 0.3075 0.159926 0.1341 0.3055 Uncertain 9_35546735_A->G 9 35546735 35546735 A G snp 7573.77 1/1 99 249 0 249 1.0 exonic rs1535422 RUSC2 AU nonsynonymous SNV NM_001135999 exon2 c.A217G p.T73A 0.965056 1 0.955790 0.9878 1 1 T 0.000 P -0.951 T 0.0 T 0.0 T Pathogenic 9_35562348_C->T 9 35562348 35562348 C T snp 1329.77 1/1 96 54 0 54 1.0 intronic rs3752951 FAM166B AU NM_001164310 exon2 c.373-28C>T 0.0952476 0.2222 0.0448 0.2308 Uncertain 9_35562393_-->TAGT 9 35562393 35562393 - TAGT indel 4347.73 1/1 99 70 0 70 1.0 exonic rs142582869 FAM166B AU frameshift insertion NM_001287239 exon5 c.676_677insACTA p.M226fs 0.115216 0.2252 0.042352 0.1392 0.3469 ID=COSM1489985,COSM288596;OCCURENCE=1(large_intestine),1(breast) Pathogenic 9_35610524_CCCTGCTCTGAGT->- 9 35610524 35610536 CCCTGCTCTGAGT - indel 1658.73 0/1 99 25 12 13 0.52 intronic rs3831303 CD72 AU 0.477436 0.5446 Uncertain 9_35610912_A->G 9 35610912 35610912 A G snp 164.78 0/1 24 9 4 5 0.56 intronic rs4879913 CD72 AU NM_001782 exon2 c.130+162A>G 0.545128 0.5536 Uncertain 9_35615896_C->G 9 35615896 35615896 C G snp 328.77 0/1 99 24 12 12 0.5 intronic rs869487 CD72 AU NM_001782 exon5 c.5319-43C>G 0.227835 0.3929 0.181993 0.2148 0.4073 Uncertain 9_35616583_A->T 9 35616583 35616583 A T snp 718.77 0/1 99 64 29 35 0.55 intronic rs2095858 CD72 AU NM_001782 exon6 c.5976-13A>T 0.477236 0.5476 0.487006 0.5314 0.5310 Uncertain 9_35618523_G->A 9 35618523 35618523 G A snp 1349.77 0/1 99 126 72 54 0.43 upstream rs10814260 CD72 AU 0.229233 0.3958 0.2491 0.4023 Uncertain 9_35650458_G->A 9 35650458 35650458 G A snp 3217.75 0/1 99 248 116 132 0.53 intronic rs2297880 SIT1 AU NM_014450 exon4 c.654-40G>A 0.608027 0.5605 0.686529 0.6978 0.5439 Uncertain 9_35660990_A->G 9 35660990 35660990 A G snp 5082.77 1/1 99 179 0 179 1.0 exonic rs1339374 CCDC107 AU nonsynonymous SNV NM_174923 exon5 c.A658G p.I220V 0.813299 0.9782 0.742273 0.8184 0.9864 1 T 0.000 P -0.957 T 0.0 T 0.0 T Pathogenic 9_35662251_T->C 9 35662251 35662251 T C snp 1778.77 0/1 99 131 56 75 0.57 exonic rs2297879 ARHGEF39 AU nonsynonymous SNV NM_032818 exon8 c.A917G p.H306R 0.305711 0.503 0.250654 0.3227 0.4872 0.58 T 0.305 P -0.907 T 0.0 T 0.0 T Pathogenic 9_35663228_G->C 9 35663228 35663228 G C snp 943.77 0/1 99 87 44 43 0.49 intronic rs10814266 ARHGEF39 AU NM_032818 exon5 c.1335-90G>C 0.320687 0.4325 0.3625 0.4679 Uncertain 9_35664624_C->A 9 35664624 35664624 C A snp 467.77 0/1 99 28 11 17 0.61 intronic rs1361338 ARHGEF39 AU NM_032818 exon8 c.2769-128C>A 0.413339 0.5218 Uncertain 9_35673891_G->A 9 35673891 35673891 G A snp 1102.77 0/1 99 110 58 52 0.47 upstream rs2071675 CA9 AU 0.119609 0.1974 Uncertain 9_35674053_G->A 9 35674053 35674053 G A snp 2369.77 0/1 99 170 73 97 0.57 exonic rs2071676 CA9 AU nonsynonymous SNV NM_001216 exon1 c.G97A p.V33M 0.323283 0.4444 0.269107 0.3619 0.4967 0 D 0.034 P -1.020 T 0.815 T 0.515 P Pathogenic 9_35677702_T->A 9 35677702 35677702 T A snp 1349.77 1/1 99 43 0 43 1.0 intronic rs2857801 CA9 AU NM_001216 exon6 c.3830-84T>A 0.99381 1 Uncertain 9_35679061_C->T 9 35679061 35679061 C T snp 660.77 0/1 99 44 19 25 0.57 intronic rs2857802 CA9 AU NM_001216 exon7 c.5225-120C>T 0.547125 0.3909 Uncertain 9_35684822_-->G 9 35684822 35684822 - G indel 2474.73 1/1 99 101 3 98 0.97 intronic rs3215700 TPM2 AD NM_003289 exon4 c.1649+18insG 0.559539 0.6205 0.6363 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000080086.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 9_35689373_T->C 9 35689373 35689373 T C snp 396.77 1/1 30 12 0 12 1.0 intronic rs2145925 TPM2 AD NM_003289 exon8 c.6113+105T>C 0.480032 0.6171 CLINSIG=untested;CLNDBN=not_provided;CLNREVSTAT=no_assertion_provided;CLNACC=RCV000128671.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Uncertain 9_35700150_C->T 9 35700150 35700150 C T snp 5974.77 1/1 99 220 0 220 1.0 intronic rs2295794 TLN1 AU NM_006289 exon9 c.2400-37C>T 0.405351 0.5387 0.371828 0.4202 0.5631 Uncertain 9_35704150_C->T 9 35704150 35704150 C T snp 1447.77 0/1 99 114 59 55 0.48 exonic rs10814270 TLN1 AU synonymous SNV NM_006289 exon46 c.G6069A p.A2023A 0.117013 0.374 0.041673 0.0932 0.3897 Uncertain 9_35711806_G->T 9 35711806 35711806 G T snp 1820.77 1/1 99 69 1 68 0.99 intronic rs2249250 TLN1 AU NM_006289 exon29 c.14002+17G>T 0.624601 0.5883 0.624173 0.6851 0.6298 Uncertain 9_35713181_C->T 9 35713181 35713181 C T snp 1969.77 1/1 99 79 1 78 0.99 intronic rs877365 TLN1 AU NM_006289 exon32 c.15405-11C>T 0.404353 0.5387 0.370060 0.4240 0.5640 Uncertain 9_35734956_C->T 9 35734956 35734956 C T snp 83.77 0/1 30 4 1 3 0.75 intronic rs10814274 CREB3 AU NM_006368 exon5 c.2336-149C>T 0.380192 0.4137 Uncertain 9_35739115_-->C 9 35739115 35739115 - C indel 1251.73 0/1 99 71 37 34 0.48 intronic rs3833700 GBA2 AR NM_020944 exon7 c.1941+9insC 0.710463 0.8194 0.692523 0.6875 0.8339 Uncertain 9_35739876_G->A 9 35739876 35739876 G A snp 525.77 0/1 99 52 32 20 0.38 intronic rs3750434 GBA2 AR NM_020944 exon9 c.2632+79G>A 0.3752 0.4187 Uncertain 9_35751221_C->T 9 35751221 35751221 C T snp 2390.77 0/1 99 188 85 103 0.55 intronic rs1570248 RGP1 AU NM_001080496 exon6 c.1510-41C>T 0.703874 0.8185 0.689362 0.6736 0.8278 Uncertain 9_35752124_G->A 9 35752124 35752124 G A snp 812.77 0/1 99 90 50 40 0.44 exonic rs117436169 RGP1 AU nonsynonymous SNV NM_001080496 exon8 c.G934A p.G312S 0.01877 0.0843 0.000165 0.0086 0.0903 0.96 T 1 D -1.078 T 0.256 T 0.262 T Pathogenic 9_35752252_G->A 9 35752252 35752252 G A snp 30.77 0/1 59 5 3 2 0.4 intronic rs1570249 RGP1 AU NM_001080496 exon8 c.2390+110G>A 0.381789 0.4167 Uncertain 9_35753170_C->A 9 35753170 35753170 C A snp 1461.77 0/1 99 156 90 66 0.42 exonic rs3750436 MSMP AU nonsynonymous SNV NM_001044264 exon3 c.G347T p.G116V 0.0361422 0.1696 0.000733 0.0135 0.1655 0.56 T 1.000 P -1.016 T 0.153 T 0.106 T Pathogenic 9_35806544_T->C 9 35806544 35806544 T C snp 628.77 0/1 99 51 29 22 0.43 intronic rs185385838 NPR2 AR,AD NM_003995 exon16 c.14130+9T>C 0.000599042 0.003 0.0005 0.0062 Uncertain 9_35825413_C->T 9 35825413 35825413 C T snp 1084.77 0/1 99 70 31 39 0.56 intronic rs4879930 FAM221B AU NM_001012446 exon5 c.6905+43C>T 0.554313 0.4534 0.628314 0.6684 0.445 Uncertain 9_35834942_T->G 9 35834942 35834942 T G snp 733.77 0/1 99 63 32 31 0.49 intronic rs2236291 TMEM8B AU 0.334665 0.378 Uncertain 9_35841783_G->A 9 35841783 35841783 G A snp 3119.77 0/1 99 249 121 128 0.51 UTR5 rs2236293 TMEM8B AU 0.334065 0.375 Uncertain 9_35845929_A->C 9 35845929 35845929 A C snp 287.77 0/1 99 18 9 9 0.5 intronic rs7848557 TMEM8B AU NM_016446 exon8 c.3536-42A>C 0.83127 0.8264 0.866790 0.8866 0.8144 Uncertain 9_35870001_T->C 9 35870001 35870001 T C snp 2941.77 0/1 99 238 124 114 0.48 exonic rs7044405 OR13J1 AU nonsynonymous SNV NM_001004487 exon1 c.A398G p.H133R 0.645767 0.6369 0.652007 0.6192 0.6369 0.06 T 0.0 P -1.097 T 0.0 T 0.0 T Pathogenic 9_35906583_-->CCACCACCACCACCACCA 9 35906583 35906583 - CCACCACCACCACCACCA indel 606.73 0/1 99 24 10 14 0.58 exonic HRCT1 AU nonframeshift insertion NM_001039792 exon1 c.299_300insCCACCACCACCACCACCA p.L100delinsLHHHHHH Uncertain 9_35957355_G->A 9 35957355 35957355 G A snp 584.77 0/1 99 43 20 23 0.53 exonic rs2233568 OR2S2 AU synonymous SNV NM_019897 exon1 c.C741T p.T247T 0.34385 0.2986 0.374135 0.3155 0.2772 ID=COSM3763916;OCCURENCE=1(large_intestine) Uncertain 9_35957669_T->C 9 35957669 35957669 T C snp 3599.77 0/1 99 250 119 131 0.52 exonic rs2233564 OR2S2 AU nonsynonymous SNV NM_019897 exon1 c.A427G p.M143V 0.317093 0.2976 0.351991 0.3062 0.2754 1 T 0.0 P -0.933 T 0.0 T 0.0 T ID=COSM3763917,COSM3763918;OCCURENCE=1(thyroid),1(large_intestine) Pathogenic 9_35958047_T->C 9 35958047 35958047 T C snp 3373.77 0/1 99 242 100 142 0.59 exonic rs2233558 OR2S2 AU nonsynonymous SNV NM_019897 exon1 c.A49G p.R17G 0.345248 0.2996 0.373827 0.3180 0.2781 1 T 0.012 P -1.037 T 0.0 T 0.0 T ID=COSM3763920,COSM3763919;OCCURENCE=1(large_intestine),1(thyroid) Pathogenic 9_36052305_T->C 9 36052305 36052305 T C snp 947.77 0/1 99 96 52 44 0.46 exonic rs58611653 RECK AU synonymous SNV NM_021111 exon2 c.T144C p.R48R 0.0325479 0.0694 0.008919 0.0160 0.0557 Uncertain 9_36063743_C->G 9 36063743 36063743 C G snp 2164.77 1/1 99 75 0 75 1.0 intronic rs942478 RECK AU NM_021111 exon5 c.26796-48C>G 0.859824 0.7351 0.917500 0.9167 0.6971 Uncertain 9_36117210_C->G 9 36117210 36117210 C G snp 1227.77 0/1 99 100 52 48 0.48 intronic rs2274521 RECK AU NM_021111 exon17 c.80179+36C>G 0.276957 0.1845 0.248923 0.2331 0.2166 Uncertain 9_36135923_T->C 9 36135923 36135923 T C snp 258.77 0/1 99 17 9 8 0.47 upstream rs7041851 GLIPR2 AU 0.366014 0.2946 Uncertain 9_36135931_T->C 9 36135931 36135931 T C snp 258.77 0/1 99 18 10 8 0.44 upstream rs16932964 GLIPR2 AU 0.0463259 0.0357 Uncertain 9_36136198_G->C 9 36136198 36136198 G C snp 324.77 0/1 99 42 28 14 0.33 upstream rs16932967 GLIPR2 AU 0.0660942 0.0357 Uncertain 9_36136237_G->C 9 36136237 36136237 G C snp 76.77 0/1 99 20 15 5 0.25 upstream rs369612044 GLIPR2 AU 0.00379393 0.0179 Uncertain 9_36136526_A->G 9 36136526 36136526 A G snp 127.77 0/1 71 11 4 7 0.64 upstream rs16932970 GLIPR2 AU 0.301917 0.2946 Uncertain 9_36136566_A->C 9 36136566 36136566 A C snp 166.77 0/1 60 10 3 7 0.7 UTR5 rs16932974 GLIPR2 AU 0.301518 0.2927 Uncertain 9_36136587_T->G 9 36136587 36136587 T G snp 129.77 0/1 99 12 4 8 0.67 UTR5 rs3739614 GLIPR2 AU 0.301717 0.2937 Uncertain 9_36151164_G->A 9 36151164 36151164 G A snp 50.74 1/1 6 2 0 2 1.0 intronic rs2277172 GLIPR2 AU NM_022343 exon4 c.14171+218G>A 0.430511 0.5139 Uncertain 9_36342181_-->CTC 9 36342181 36342181 - CTC indel 616.73 1/1 33 11 0 11 1.0 intronic rs10625223 RNF38 AU NM_194328 exon2 c.2573-140insCTC 0.978634 1 Uncertain 9_36630251_C->T 9 36630251 36630251 C T snp 1358.77 0/1 99 136 75 61 0.45 intronic rs186747874 MELK AU NM_014791 exon9 c.48617-44C>T 0.000399361 0.002 0.0005 0.0065 Uncertain 9_36643131_A->G 9 36643131 36643131 A G snp 228.77 0/1 99 25 13 12 0.48 intronic rs9298970 MELK AU NM_014791 exon11 c.61402+51A>G 0.370208 0.2351 0.366098 0.3108 0.2209 Uncertain 9_36669228_C->A 9 36669228 36669228 C A snp 564.77 1/1 42 18 0 18 1.0 intronic rs3780133 MELK AU NM_014791 exon15 c.87628-78C>A 0.907748 0.9157 Uncertain 9_36674842_C->T 9 36674842 36674842 C T snp 2564.77 1/1 99 91 0 91 1.0 exonic rs2274473 MELK AU synonymous SNV NM_014791 exon17 c.C1686T p.N562N 0.749201 0.8859 0.764575 0.8506 0.9021 Uncertain 9_36840623_G->A 9 36840623 36840623 G A snp 2007.77 1/1 99 71 0 71 1.0 exonic rs3780135 PAX5 AU synonymous SNV NM_016734 exon10 c.C1110T p.Y370Y 0.742013 0.8899 0.763121 0.8687 0.8826 0.07 T 1.000 P -0.922 T 0.0 T 0.001 T CLINSIG=untested;CLNDBN=not_specified;CLNREVSTAT=no_assertion_provided;CLNACC=RCV000121765.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 ID=COSM4163845;OCCURENCE=1(thyroid) Likely benign 9_36864066_G->A 9 36864066 36864066 G A snp 336.78 1/1 27 11 0 11 1.0 intronic rs4378045 PAX5 AU NM_001280547 exon2 c.6370+17140G>A 0.290136 0.2024 Uncertain 9_36864119_A->G 9 36864119 36864119 A G snp 656.77 1/1 51 26 0 26 1.0 intronic rs4289895 PAX5 AU NM_001280547 exon2 c.6370+17193A>G 0.60024 0.4633 Uncertain 9_36864379_G->A 9 36864379 36864379 G A snp 131.77 0/1 99 20 14 6 0.3 intronic rs72735606 PAX5 AU NM_001280547 exon2 c.6370+17453G>A 0.256589 0.3512 Uncertain 9_36966379_A->G 9 36966379 36966379 A G snp 164.9 1/1 15 5 0 5 1.0 intronic rs2297108 PAX5 AU NM_001280548 exon4 c.125989-166A>G 0.772963 0.8482 Uncertain 9_37020622_A->C 9 37020622 37020622 A C snp 1199.77 0/1 99 115 66 49 0.43 intronic rs2297105 PAX5 AU NM_001280548 exon8 c.180076-10A>C 0.551717 0.5337 0.469399 0.4708 0.5058 Uncertain 9_37302155_C->T 9 37302155 37302155 C T snp 620.77 0/1 99 70 40 30 0.43 intronic rs10814518 ZCCHC7 AU NM_001289120 exon3 c.175855-29C>T 0.26278 0.2183 0.326766 0.3509 0.1808 Uncertain 9_37304168_-->T 9 37304168 37304168 - T indel 1108.73 1/1 99 41 0 41 1.0 intronic rs11422051 ZCCHC7 AU NM_001289120 exon4 c.177855-16insT 0.5309 0.3502 Uncertain 9_37305830_ATAT->- 9 37305830 37305833 ATAT - indel 942.73 ./1 99 36 0 36 1.0 intronic rs10594105 ZCCHC7 AU NM_001289120 exon5 c.179382+119_179382+122delATAT 0.518171 0.2956 Uncertain 9_37305830_AT->- 9 37305830 37305831 AT - indel 942.73 ./1 99 36 0 36 1.0 intronic rs745415723 ZCCHC7 AU NM_001289120 exon5 c.179382+119_179382+120delAT Uncertain 9_37305852_A->G 9 37305852 37305852 A G snp 224.77 0/1 99 19 9 10 0.53 intronic rs3780333 ZCCHC7 AU NM_001289120 exon5 c.179382+141A>G 0.171326 0.1161 Uncertain 9_37422656_C->T 9 37422656 37422656 C T snp 224.77 0/1 99 23 13 10 0.43 upstream rs4878690 GRHPR AR 0.303514 0.4415 Uncertain 9_37422675_C->A 9 37422675 37422675 C A snp 260.77 0/1 99 29 16 13 0.45 upstream rs10973332 GRHPR AR 0.15655 0.4365 Uncertain 9_37426524_C->T 9 37426524 37426524 C T snp 4889.77 1/1 99 192 0 192 1.0 intronic rs2736664 GRHPR AR NM_012203 exon4 c.3787-10C>T 0.919529 1 0.922113 0.9764 1 Uncertain 9_37429661_A->G 9 37429661 37429661 A G snp 1444.77 1/1 99 54 0 54 1.0 intronic rs309459 GRHPR AR NM_012203 exon6 c.6981-67A>G 0.852037 0.9157 0.8934 0.9202 Uncertain 9_37429814_A->G 9 37429814 37429814 A G snp 2030.77 1/1 99 73 1 72 0.99 exonic rs309458 GRHPR AR synonymous SNV NM_012203 exon6 c.A579G p.A193A 0.849241 0.9167 0.856989 0.8925 0.9212 CLINSIG=non-pathogenic;CLNDBN=Primary_hyperoxaluria\x2c_type_II;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000020679.2;CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT;CLNDSDBID=NBK2692:C0268165:260000:ORPHA93599:40951006 ID=COSM4163857,COSM4163856;OCCURENCE=1(thyroid) Uncertain 9_37432264_T->C 9 37432264 37432264 T C snp 1253.77 1/1 93 32 0 32 1.0 intronic rs309455 GRHPR AR NM_012203 exon8 c.9388+129T>C 0.851038 0.9147 Uncertain 9_37441808_A->G 9 37441808 37441808 A G snp 6352.77 1/1 99 231 2 229 0.99 exonic rs309450 ZBTB5 AU synonymous SNV NM_014872 exon2 c.T741C p.D247D 0.998203 1 0.995079 0.9988 1 Uncertain 9_37486383_G->A 9 37486383 37486383 G A snp 354.77 1/1 30 10 0 10 1.0 intronic rs10973360 POLR1E AU NM_022490 exon1 c.76+263G>A 0.813898 0.9921 Uncertain 9_37486603_A->G 9 37486603 37486603 A G snp 2255.77 0/1 99 222 119 103 0.46 intronic rs1571234 POLR1E AU NM_022490 exon2 c.655-96A>G 0.477636 0.2887 0.5509 0.3016 0.16 T 0.0 P -0.924 T 0.001 T 0.001 T Uncertain 9_37486916_G->C 9 37486916 37486916 G C snp 40.77 0/1 69 5 3 2 0.4 intronic rs913278 POLR1E AU NM_022490 exon2 c.759+113G>C 0.828674 0.8383 Uncertain 9_37492721_G->A 9 37492721 37492721 G A snp 1392.77 0/1 99 173 109 64 0.37 intronic rs3739575 POLR1E AU NM_022490 exon5 c.6668+9G>A 0.0904553 0.1647 0.074658 0.1064 0.1688 Uncertain 9_37498293_C->T 9 37498293 37498293 C T snp 372.77 0/1 99 25 11 14 0.56 intronic POLR1E AU NM_022490 exon9 c.12177+72C>T Uncertain 9_37498334_C->T 9 37498334 37498334 C T snp 74.77 0/1 99 10 6 4 0.4 intronic rs6476635 POLR1E AU NM_022490 exon9 c.12177+113C>T 0.480431 0.4097 Uncertain 9_37503124_G->A 9 37503124 37503124 G A snp 1049.77 1/1 78 38 0 38 1.0 exonic rs7047823 POLR1E AU synonymous SNV NM_022490 exon12 c.G1185A p.K395K 0.999201 1 0.998924 0.9998 1 Uncertain 9_37512734_G->A 9 37512734 37512734 G A snp 916.77 0/1 99 55 28 27 0.49 intronic rs10973387 FBXO10 AU NM_012166 exon1 c.175+16G>A 0.342452 0.4097 0.305155 0.3456 0.4335 Uncertain 9_37518032_C->T 9 37518032 37518032 C T snp 1213.77 0/1 99 93 45 48 0.52 intronic rs17413149 FBXO10 AU NM_012166 exon3 c.5578-89C>T 0.105631 0.1627 Uncertain 9_37536998_C->T 9 37536998 37536998 C T snp 775.77 1/1 60 25 0 25 1.0 intronic rs927930 FBXO10 AU NM_012166 exon9 c.24563-108C>T 0.948482 0.999 Uncertain 9_37537557_G->A 9 37537557 37537557 G A snp 4930.77 1/1 99 169 1 168 0.99 exonic rs7044153 FBXO10 AU synonymous SNV NM_012166 exon3 c.C969T p.A323A 0.550519 0.6984 0.558575 0.6177 0.6977 ID=COSM3763931;OCCURENCE=1(large_intestine) Uncertain 9_37707392_T->C 9 37707392 37707392 T C snp 357.77 0/1 99 36 22 14 0.39 intronic rs2296557 FRMPD1 AU NM_014907 exon3 c.14774-20T>C 0.115415 0.0486 0.217207 0.1981 0.0582 Uncertain 9_37707743_G->A 9 37707743 37707743 G A snp 43.77 0/1 72 5 3 2 0.4 intronic rs7860120 FRMPD1 AU NM_014907 exon3 c.14932+173G>A 0.115216 0.0486 Uncertain 9_37708572_A->G 9 37708572 37708572 A G snp 995.77 0/1 99 89 44 45 0.51 intronic rs2296554 FRMPD1 AU NM_014907 exon4 c.15860+74A>G 0.0934505 0.0486 Uncertain 9_37715574_G->C 9 37715574 37715574 G C snp 398.77 0/1 99 38 19 19 0.5 intronic rs1952126 FRMPD1 AU NM_014907 exon6 c.26427-3491G>C 0.713059 0.9454 Uncertain 9_37731171_G->A 9 37731171 37731171 G A snp 248.77 0/1 99 31 19 12 0.39 intronic rs566323762 FRMPD1 AU NM_014907 exon9 c.38462+71G>A 0.000199681 Uncertain 9_37731177_T->G 9 37731177 37731177 T G snp 382.77 0/1 99 26 9 17 0.65 intronic rs2274323 FRMPD1 AU NM_014907 exon9 c.38462+77T>G 0.239417 0.3819 Uncertain 9_37732142_T->C 9 37732142 37732142 T C snp 216.84 1/1 18 6 0 6 1.0 intronic rs7035345 FRMPD1 AU NM_014907 exon10 c.39662-158T>C 0.573283 0.5575 Uncertain 9_37737283_A->G 9 37737283 37737283 A G snp 871.77 1/1 66 27 0 27 1.0 intronic rs2296552 FRMPD1 AU NM_014907 exon14 c.44602+43A>G 0.533946 0.5427 0.501384 0.5278 0.5263 Uncertain 9_37739932_G->A 9 37739932 37739932 G A snp 177.77 0/1 99 15 9 6 0.4 intronic rs10758456 FRMPD1 AU NM_014907 exon15 c.47436-142G>A 0.233427 0.3323 Uncertain 9_37740637_T->C 9 37740637 37740637 T C snp 3812.77 1/1 99 129 0 129 1.0 exonic rs2281872 FRMPD1 AU synonymous SNV NM_014907 exon15 c.T2112C p.A704A 0.621206 0.5437 0.638321 0.6468 0.5301 Uncertain 9_37745413_G->A 9 37745413 37745413 G A snp 2733.77 0/1 99 234 120 114 0.49 exonic rs3747541 FRMPD1 AU synonymous SNV NM_014907 exon16 c.G3384A p.E1128E 0.386382 0.2024 0.407735 0.3634 0.1890 ID=COSM3763939;OCCURENCE=1(large_intestine) Uncertain 9_37769811_T->G 9 37769811 37769811 T G snp 256.77 0/1 99 34 24 10 0.29 intronic rs10973531 TRMT10B AU NM_001286951 exon5 c.7833-126T>G 0.330471 0.1726 Uncertain 9_37782111_C->T 9 37782111 37782111 C T snp 3877.77 1/1 99 147 0 147 1.0 exonic rs7158 EXOSC3 AR synonymous SNV NM_016042 exon3 c.G498A p.Q166Q 0.564097 0.5337 0.529140 0.5335 0.5307 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000117006.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 ID=COSM3763941;OCCURENCE=1(large_intestine) Uncertain 9_37886429_G->A 9 37886429 37886429 G A snp 1239.77 0/1 99 96 42 54 0.56 intergenic rs13294843 DCAF10 AU 0.190096 0.3393 Uncertain 9_37887571_A->- 9 37887571 37887571 A - indel 119.73 0/1 99 40 28 12 0.3 downstream SLC25A51 AU Uncertain 9_37974743_T->C 9 37974743 37974743 T C snp 1681.77 0/1 99 147 78 69 0.47 exonic rs1138374 SHB AU synonymous SNV NM_003028 exon3 c.A930G p.S310S 0.621805 0.7768 0.573159 0.5462 0.7848 ID=COSM4163862;OCCURENCE=1(thyroid) Uncertain 9_37975002_G->A 9 37975002 37975002 G A snp 38.77 0/1 67 6 4 2 0.33 intronic rs6476667 SHB AU NM_003028 exon4 c.55017+168G>A 0.621805 0.7768 Uncertain 9_38015327_C->G 9 38015327 38015327 C G snp 174.77 0/1 99 19 12 7 0.37 intronic rs2183130 SHB AU NM_003028 exon5 c.96190-680C>G 0.398562 0.2282 Uncertain 9_38015646_C->G 9 38015646 38015646 C G snp 634.77 1/1 48 20 0 20 1.0 intronic rs7047952 SHB AU NM_003028 exon5 c.96190-361C>G 0.959665 0.999 Uncertain 9_38016247_T->C 9 38016247 38016247 T C snp 381.77 0/1 99 23 10 13 0.57 intronic rs7037371 SHB AU NM_003028 exon5 c.96311+119T>C 0.464058 0.248 Uncertain 9_38068179_G->A 9 38068179 38068179 G A snp 1090.77 0/1 99 71 28 43 0.61 exonic rs117149829 SHB AU nonsynonymous SNV NM_003028 exon1 c.C464T p.S155F 0.00399361 0.0198 0.0097 0.0970 0.05 T 1.000 D -0.876 T 0.989 D 0.948 D Pathogenic 9_38068532_A->G 9 38068532 38068532 A G snp 1017.77 0/1 99 104 59 45 0.43 exonic rs3750444 SHB AU synonymous SNV NM_003028 exon1 c.T111C p.P37P 0.594249 0.369 0.6966 0.4801 Uncertain 9_38395928_C->T 9 38395928 38395928 C T snp 6041.77 1/1 99 214 2 212 0.99 exonic rs2073477 ALDH1B1 AU synonymous SNV NM_000692 exon2 c.C183T p.T61T 0.267772 0.3899 0.165231 0.1919 0.3803 CLINSIG=non-pathogenic;CLNDBN=not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000123604.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Uncertain 9_38395940_T->C 9 38395940 38395940 T C snp 6215.77 1/1 99 212 0 212 1.0 exonic rs2228094 ALDH1B1 AU synonymous SNV NM_000692 exon2 c.T195C p.I65I 0.936701 1 0.920806 0.9542 0.9999 CLINSIG=non-pathogenic;CLNDBN=not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000123605.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Uncertain 9_38396002_C->T 9 38396002 38396002 C T snp 6250.77 1/1 99 228 0 228 1.0 exonic rs2228093 ALDH1B1 AU nonsynonymous SNV NM_000692 exon2 c.C257T p.A86V 0.230431 0.3929 0.124173 0.1851 0.3823 0 D 1.000 P -1.015 T 1.0 D 0.996 D CLINSIG=non-pathogenic;CLNDBN=not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000123606.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 ID=COSM3763942;OCCURENCE=1(large_intestine) Pathogenic 9_38396502_G->A 9 38396502 38396502 G A snp 7402.77 1/1 99 250 1 249 1.0 exonic rs4878199 ALDH1B1 AU nonsynonymous SNV NM_000692 exon2 c.G757A p.V253M 0.938498 1 0.921882 0.9539 0.9999 1 T 0.0 P -1.014 T 0.0 T 0.0 T CLINSIG=non-pathogenic;CLNDBN=not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000123610.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Pathogenic 9_38397355_G->C 9 38397355 38397355 G C snp 901.77 1/1 69 24 0 24 1.0 UTR3 rs3043 ALDH1B1 AU 0.689696 0.7004 Uncertain 9_38411724_G->A 9 38411724 38411724 G A snp 54.74 1/1 6 2 0 2 1.0 intronic rs4142261 IGFBPL1 AU NM_001007563 exon2 c.150+178G>A 0.219848 0.4395 Uncertain 9_38414031_CA->- 9 38414031 38414032 CA - indel 3377.73 0/1 99 245 129 116 0.47 intronic rs10545424 IGFBPL1 AU NM_001007563 exon4 c.2694-59_2694-58delCA Uncertain 9_38423826_T->A 9 38423826 38423826 T A snp 1280.77 0/1 99 75 31 44 0.59 intronic rs7039990 IGFBPL1 AU NM_001007563 exon5 c.12565-135T>A 0.753594 0.7262 Uncertain 9_38571976_-->TAAA 9 38571976 38571976 - TAAA indel 1099.73 0/1 99 36 17 19 0.53 UTR3 rs140529454 ANKRD18A AU 0.492612 0.7183 0.389651 0.3883 0.6823 Uncertain 9_38586130_T->C 9 38586130 38586130 T C snp 183.77 0/1 99 11 5 6 0.55 intronic rs1415581 ANKRD18A AU NM_147195 exon5 c.14138-49T>C 0.506789 0.4802 0.3058 0.4195 Uncertain 9_38588602_T->C 9 38588602 38588602 T C snp 677.77 0/1 99 83 47 36 0.43 exonic rs2799163 ANKRD18A AU nonsynonymous SNV NM_147195 exon11 c.A2063G p.Y688C 0.392173 0.4772 0.2844 0.4855 0.18 T 0.0 P -0.970 T 0.991 D 0.515 D Pathogenic 9_38595886_T->C 9 38595886 38595886 T C snp 3881.77 0/1 99 250 113 137 0.55 exonic rs2996347 ANKRD18A AU nonsynonymous SNV NM_147195 exon9 c.A1451G p.N484S 0.331869 0.4603 0.280237 0.2206 0.4728 0.21 T 0.877 P -0.934 T 0.005 T 0.0 T Pathogenic 9_38603131_G->A 9 38603131 38603131 G A snp 1219.77 0/1 99 138 75 63 0.46 intronic rs3005823 ANKRD18A AU NM_147195 exon10 c.31114-24G>A 0.441294 0.4117 0.1748 0.106 Uncertain 9_38603140_-->T 9 38603140 38603140 - T indel 2173.73 0/1 99 136 77 59 0.43 intronic rs11377377 ANKRD18A AU NM_147195 exon10 c.31114-15insT 0.191094 0.2778 0.061770 0.0189 0.1054 Uncertain 9_39133168_A->G 9 39133168 39133168 A G snp 117.77 0/1 99 21 10 11 0.52 intronic rs1692830 CNTNAP3 AU NM_033655 exon12 c.59246+36A>G 0.483227 0.4444 0.3937 0.4538 Uncertain 9_40503085_A->G 9 40503085 40503085 A G snp 2295.77 1/1 99 104 0 104 1.0 intergenic rs139489532 SPATA31A1 AU 0.983227 0.999 0.9838 0.9994 Uncertain 9_40503105_G->C 9 40503105 40503105 G C snp 570.77 0/1 99 130 96 34 0.26 intergenic rs201003096 SPATA31A1 AU 0.5607 0.3955 Uncertain 9_40784183_A->G 9 40784183 40784183 A G snp 1165.77 1/1 84 51 0 51 1.0 exonic rs4339693 ZNF658 AU synonymous SNV NM_033160 exon4 c.T162C p.P54P 0.821885 0.8859 0.7815 0.8735 ID=COSM4163880;OCCURENCE=1(thyroid) Uncertain 9_43816656_T->C 9 43816656 43816656 T C snp 4249.77 1/1 99 228 1 227 1.0 exonic rs62554983 CNTNAP3B AU synonymous SNV NM_001201380 exon6 c.T762C p.S254S 0.4654 0.5499 0.0 P -0.961 T ID=COSM4163892;OCCURENCE=1(thyroid) Likely benign 9_43818062_T->A 9 43818062 43818062 T A snp 5082.77 1/1 99 223 0 223 1.0 exonic rs62554986 CNTNAP3B AU nonsynonymous SNV NM_001201380 exon7 c.T949A p.S317T 0.788938 0.8849 0.8409 0.9154 0.45 T 0.0 P -0.996 T Pathogenic 9_43860959_G->C 9 43860959 43860959 G C snp 574.77 1/1 42 26 0 26 1.0 ncRNA_intronic rs62536499 CNTNAP3P2 AU 0.647165 0.6984 0.5618 0.5760 Uncertain 9_43861081_T->G 9 43861081 43861081 T G snp 269.8 1/1 21 19 0 19 1.0 exonic rs62536501 CNTNAP3B AU nonsynonymous SNV NM_001201380 exon13 c.T1955G p.L652R 0.5414 0.5321 0.34 T 0.0 P -0.933 T Pathogenic 9_43861247_G->- 9 43861247 43861247 G - indel 199.8 1/1 18 7 0 7 1.0 ncRNA_intronic rs370578077 CNTNAP3P2 AU 0.0351438 0.0675 0.0102 0.1016 Uncertain 9_65602551_C->T 9 65602551 65602551 C T snp 528.77 0/1 99 51 28 23 0.45 intergenic rs11265643 SPATA31A7 AU Uncertain 9_65602782_C->T 9 65602782 65602782 C T snp 99.28 1/1 9 3 0 3 1.0 intergenic rs11265644 SPATA31A7 AU Uncertain 9_66456955_A->C 9 66456955 66456955 A C snp 37.77 0/1 66 6 4 2 0.33 upstream rs145662988 LINC01410 AU Uncertain 9_66456967_G->A 9 66456967 66456967 G A snp 144.77 0/1 99 9 4 5 0.56 upstream rs7040375 LINC01410 AU Uncertain 9_66457003_C->T 9 66457003 66457003 C T snp 58.77 0/1 87 37 32 5 0.14 upstream LINC01410 AU Uncertain 9_66457014_C->T 9 66457014 66457014 C T snp 136.77 0/1 99 44 35 9 0.2 upstream LINC01410 AU Uncertain 9_66457016_C->T 9 66457016 66457016 C T snp 119.77 0/1 99 44 36 8 0.18 upstream rs10436128 LINC01410 AU Uncertain 9_66457019_G->A 9 66457019 66457019 G A snp 554.77 0/1 99 47 22 25 0.53 upstream rs7040398 LINC01410 AU Uncertain 9_66457027_T->A 9 66457027 66457027 T A snp 791.77 0/1 99 65 23 42 0.65 upstream rs76122331 LINC01410 AU Uncertain 9_66457040_C->T 9 66457040 66457040 C T snp 199.77 0/1 99 78 56 22 0.28 upstream rs12554358 LINC01410 AU Uncertain 9_66457051_G->C 9 66457051 66457051 G C snp 961.77 0/1 99 91 34 57 0.63 upstream rs79307166 LINC01410 AU Uncertain 9_66457052_G->A 9 66457052 66457052 G A snp 429.77 0/1 99 91 55 36 0.4 upstream LINC01410 AU Uncertain 9_66457060_C->T 9 66457060 66457060 C T snp 163.77 0/1 99 100 81 19 0.19 upstream LINC01410 AU Uncertain 9_66457062_G->C 9 66457062 66457062 G C snp 179.77 0/1 99 101 81 20 0.2 upstream LINC01410 AU Uncertain 9_66457076_T->C 9 66457076 66457076 T C snp 730.77 0/1 99 124 84 40 0.32 upstream rs76994164 LINC01410 AU Uncertain 9_66457077_T->C 9 66457077 66457077 T C snp 262.77 0/1 99 127 96 31 0.24 upstream LINC01410 AU Uncertain 9_66457106_C->T 9 66457106 66457106 C T snp 903.77 0/1 99 147 87 60 0.41 upstream rs200733760 LINC01410 AU Uncertain 9_66457112_G->A 9 66457112 66457112 G A snp 195.77 0/1 99 153 134 19 0.12 upstream rs113087405 LINC01410 AU Uncertain 9_66457127_G->A 9 66457127 66457127 G A snp 1747.77 0/1 99 163 72 91 0.56 upstream rs73447819 LINC01410 AU Uncertain 9_66457128_C->T 9 66457128 66457128 C T snp 165.77 0/1 99 164 146 18 0.11 upstream LINC01410 AU Uncertain 9_66457129_A->G 9 66457129 66457129 A G snp 162.77 0/1 99 166 149 17 0.1 upstream LINC01410 AU Uncertain 9_66457151_G->C 9 66457151 66457151 G C snp 959.77 0/1 99 170 112 58 0.34 upstream rs78939328 LINC01410 AU Uncertain 9_66457161_A->G 9 66457161 66457161 A G snp 34.77 0/1 63 164 150 14 0.09 upstream rs139907210 LINC01410 AU Uncertain 9_66457193_AGAGAGAG->- 9 66457193 66457200 AGAGAGAG - indel 5399.73 ./1 99 120 16 104 0.87 upstream LINC01410 AU Uncertain 9_66457193_AG->- 9 66457193 66457194 AG - indel 5399.73 ./1 99 120 16 104 0.87 upstream rs148663514 LINC01410 AU Uncertain 9_66457204_G->C 9 66457204 66457204 G C snp 309.77 0/1 99 136 103 33 0.24 upstream rs761895414 LINC01410 AU Uncertain 9_66457206_G->C 9 66457206 66457206 G C snp 108.77 0/1 99 135 119 16 0.12 upstream LINC01410 AU Uncertain 9_66457219_G->A 9 66457219 66457219 G A snp 248.77 0/1 99 117 97 20 0.17 upstream LINC01410 AU Uncertain 9_66457228_A->C 9 66457228 66457228 A C snp 442.77 0/1 99 133 103 30 0.23 upstream LINC01410 AU Uncertain 9_66457231_-->AC 9 66457231 66457231 - AC indel 2120.73 0/1 99 137 75 62 0.45 upstream rs140644333 LINC01410 AU Uncertain 9_66457233_G->C 9 66457233 66457233 G C snp 501.77 0/1 99 140 107 33 0.24 upstream LINC01410 AU Uncertain 9_66457237_G->A 9 66457237 66457237 G A snp 258.77 0/1 99 150 126 24 0.16 upstream LINC01410 AU Uncertain 9_66457241_G->A 9 66457241 66457241 G A snp 305.77 0/1 99 155 126 29 0.19 upstream rs113933538 LINC01410 AU Uncertain 9_66457253_A->G 9 66457253 66457253 A G snp 1353.77 0/1 99 161 52 109 0.68 upstream rs73447820 LINC01410 AU Uncertain 9_66457265_C->A 9 66457265 66457265 C A snp 551.77 0/1 99 170 129 41 0.24 upstream LINC01410 AU Uncertain 9_66457267_C->A 9 66457267 66457267 C A snp 195.77 0/1 99 170 139 31 0.18 upstream rs2002299 LINC01410 AU 0.448882 0.4444 Uncertain 9_66457270_G->A 9 66457270 66457270 G A snp 524.77 0/1 99 172 136 36 0.21 upstream rs746571138 LINC01410 AU Uncertain 9_66457278_G->A 9 66457278 66457278 G A snp 225.77 0/1 99 176 141 35 0.2 upstream LINC01410 AU Uncertain 9_66457310_T->G 9 66457310 66457310 T G snp 1243.77 0/1 99 175 97 78 0.45 ncRNA_exonic rs75999199 LINC01410 AU Uncertain 9_66457313_G->A 9 66457313 66457313 G A snp 2367.77 0/1 99 175 53 122 0.7 ncRNA_exonic rs79959518 LINC01410 AU Uncertain 9_66457317_C->T 9 66457317 66457317 C T snp 1308.77 0/1 99 181 104 77 0.43 ncRNA_exonic rs77524857 LINC01410 AU Uncertain 9_66457324_G->A 9 66457324 66457324 G A snp 1354.77 0/1 99 198 112 86 0.43 ncRNA_exonic rs80001863 LINC01410 AU Uncertain 9_66457374_A->G 9 66457374 66457374 A G snp 177.77 0/1 99 207 175 32 0.15 ncRNA_intronic rs199952614 LINC01410 AU Uncertain 9_66457384_G->A 9 66457384 66457384 G A snp 200.77 0/1 99 214 181 33 0.15 ncRNA_intronic LINC01410 AU Uncertain 9_66457388_T->G 9 66457388 66457388 T G snp 2850.77 0/1 99 217 68 149 0.69 ncRNA_intronic rs1809739 LINC01410 AU Uncertain 9_66457399_T->G 9 66457399 66457399 T G snp 2254.77 0/1 99 218 96 122 0.56 ncRNA_intronic rs78461570 LINC01410 AU Uncertain 9_66457404_G->A 9 66457404 66457404 G A snp 419.77 0/1 99 230 189 41 0.18 ncRNA_intronic LINC01410 AU Uncertain 9_66457440_A->G 9 66457440 66457440 A G snp 1457.77 0/1 99 249 166 83 0.33 ncRNA_intronic rs79030992 LINC01410 AU Uncertain 9_66457451_T->C 9 66457451 66457451 T C snp 2167.77 0/1 99 250 143 107 0.43 ncRNA_intronic rs79122745 LINC01410 AU Uncertain 9_66457460_G->A 9 66457460 66457460 G A snp 839.77 0/1 99 250 187 63 0.25 ncRNA_intronic rs75525313 LINC01410 AU Uncertain 9_66457465_T->G 9 66457465 66457465 T G snp 2246.77 0/1 99 245 129 116 0.47 ncRNA_intronic rs11262297 LINC01410 AU Uncertain 9_66457475_C->T 9 66457475 66457475 C T snp 3457.77 0/1 99 243 85 158 0.65 ncRNA_intronic rs2002300 LINC01410 AU Uncertain 9_66457480_G->A 9 66457480 66457480 G A snp 1815.77 0/1 99 249 147 102 0.41 ncRNA_intronic rs77629849 LINC01410 AU Uncertain 9_66457498_G->T 9 66457498 66457498 G T snp 890.77 0/1 99 250 187 63 0.25 ncRNA_intronic rs113875913 LINC01410 AU Uncertain 9_66457535_T->C 9 66457535 66457535 T C snp 224.77 0/1 99 246 216 30 0.12 ncRNA_intronic rs74360065 LINC01410 AU Uncertain 9_66457549_A->G 9 66457549 66457549 A G snp 1205.77 0/1 99 246 139 107 0.43 ncRNA_intronic rs77706622 LINC01410 AU Uncertain 9_66457562_C->T 9 66457562 66457562 C T snp 869.77 0/1 99 245 188 57 0.23 ncRNA_intronic rs79475537 LINC01410 AU Uncertain 9_66457565_G->C 9 66457565 66457565 G C snp 152.77 0/1 99 243 218 25 0.1 ncRNA_intronic LINC01410 AU Uncertain 9_66457585_G->T 9 66457585 66457585 G T snp 1468.77 0/1 99 221 146 75 0.34 ncRNA_intronic rs78196222 LINC01410 AU Uncertain 9_66457593_C->A 9 66457593 66457593 C A snp 640.77 0/1 99 192 145 47 0.24 ncRNA_intronic rs141224694 LINC01410 AU Uncertain 9_66457594_A->G 9 66457594 66457594 A G snp 4194.77 0/1 99 190 22 168 0.88 ncRNA_intronic rs1809740 LINC01410 AU 0.66853 0.6171 Uncertain 9_66457595_G->A 9 66457595 66457595 G A snp 339.77 0/1 99 191 160 31 0.16 ncRNA_intronic rs78450472 LINC01410 AU 0.0634984 0.0506 Uncertain 9_66457601_G->T 9 66457601 66457601 G T snp 492.77 0/1 99 187 134 53 0.28 ncRNA_intronic rs79204868 LINC01410 AU Uncertain 9_66457605_C->T 9 66457605 66457605 C T snp 768.77 0/1 99 183 135 48 0.26 ncRNA_intronic rs55842063 LINC01410 AU Uncertain 9_66457609_G->A 9 66457609 66457609 G A snp 348.77 0/1 99 179 152 27 0.15 ncRNA_intronic rs12380199 LINC01410 AU Uncertain 9_66457612_C->A 9 66457612 66457612 C A snp 237.77 0/1 99 180 156 24 0.13 ncRNA_intronic LINC01410 AU Uncertain 9_66457613_C->G 9 66457613 66457613 C G snp 419.77 0/1 99 180 120 60 0.33 ncRNA_intronic rs144074368 LINC01410 AU Uncertain 9_66457620_C->T 9 66457620 66457620 C T snp 518.77 0/1 99 174 143 31 0.18 ncRNA_intronic rs74362572 LINC01410 AU Uncertain 9_66457634_G->T 9 66457634 66457634 G T snp 38.77 0/1 67 152 138 14 0.09 ncRNA_intronic LINC01410 AU Uncertain 9_66457646_G->T 9 66457646 66457646 G T snp 183.77 0/1 99 126 94 32 0.25 ncRNA_intronic rs78339757 LINC01410 AU Uncertain 9_66457652_C->A 9 66457652 66457652 C A snp 618.77 0/1 99 118 82 36 0.31 ncRNA_intronic rs1809741 LINC01410 AU Uncertain 9_66457653_G->A 9 66457653 66457653 G A snp 45.77 0/1 74 117 109 8 0.07 ncRNA_intronic LINC01410 AU Uncertain 9_66457664_T->C 9 66457664 66457664 T C snp 545.77 0/1 99 106 76 30 0.28 ncRNA_intronic rs78392104 LINC01410 AU Uncertain 9_66457691_A->C 9 66457691 66457691 A C snp 372.77 0/1 99 70 51 19 0.27 ncRNA_intronic rs111684071 LINC01410 AU Uncertain 9_66457730_A->C 9 66457730 66457730 A C snp 42.77 0/1 71 20 14 6 0.3 ncRNA_intronic rs139222004 LINC01410 AU Uncertain 9_66457773_G->T 9 66457773 66457773 G T snp 40.77 0/1 69 5 3 2 0.4 ncRNA_intronic rs201372448 LINC01410 AU Uncertain 9_66499220_C->T 9 66499220 66499220 C T snp 2074.77 0/1 99 168 78 90 0.54 ncRNA_intronic rs10907866 PTGER4P2-CDK2AP2P2 AU 0.3921 0.3591 Uncertain 9_66499292_T->C 9 66499292 66499292 T C snp 204.77 0/1 99 217 176 41 0.19 ncRNA_intronic rs77998783 PTGER4P2-CDK2AP2P2 AU 0.2954 0.3785 Uncertain 9_66499336_A->C 9 66499336 66499336 A C snp 449.77 0/1 99 164 111 53 0.32 ncRNA_intronic rs185058144 PTGER4P2-CDK2AP2P2 AU 0.4329 0.4330 Uncertain 9_66499356_G->A 9 66499356 66499356 G A snp 495.77 0/1 99 141 88 53 0.38 ncRNA_intronic rs201959709 PTGER4P2-CDK2AP2P2 AU 0.2829 0.3103 Uncertain 9_66499403_G->A 9 66499403 66499403 G A snp 202.77 0/1 99 48 22 26 0.54 ncRNA_intronic rs199663448 PTGER4P2-CDK2AP2P2 AU 0.2830 0.25 Uncertain 9_66517057_C->T 9 66517057 66517057 C T snp 1249.77 0/1 99 206 153 53 0.26 ncRNA_intronic rs12336570 LOC403323 AU Uncertain 9_66517192_A->C 9 66517192 66517192 A C snp 2014.77 0/1 99 234 154 80 0.34 ncRNA_intronic rs7867035 LOC403323 AU Uncertain 9_66517198_C->A 9 66517198 66517198 C A snp 1492.77 0/1 99 229 168 61 0.27 ncRNA_intronic rs10796698 LOC403323 AU Uncertain 9_68372152_C->T 9 68372152 68372152 C T snp 44.74 1/1 6 4 1 3 0.75 intergenic rs62545012 ANKRD20A1 AU Uncertain 9_68372217_C->T 9 68372217 68372217 C T snp 131.77 0/1 99 31 23 8 0.26 intergenic rs190581388 ANKRD20A1 AU Uncertain 9_68372238_G->A 9 68372238 68372238 G A snp 150.77 0/1 99 49 38 11 0.22 intergenic rs374781801 ANKRD20A1 AU Uncertain 9_68372264_C->T 9 68372264 68372264 C T snp 510.77 0/1 99 84 57 27 0.32 intergenic rs140520174 ANKRD20A1 AU Uncertain 9_68372282_G->T 9 68372282 68372282 G T snp 479.77 0/1 99 111 82 29 0.26 intergenic rs147422696 ANKRD20A1 AU Uncertain 9_68372283_C->T 9 68372283 68372283 C T snp 471.77 0/1 99 112 83 29 0.26 intergenic rs150871961 ANKRD20A1 AU Uncertain 9_68372284_T->G 9 68372284 68372284 T G snp 859.77 0/1 99 117 73 44 0.38 intergenic rs140186551 ANKRD20A1 AU Uncertain 9_68372328_A->G 9 68372328 68372328 A G snp 1035.77 0/1 99 195 136 59 0.3 intergenic rs79919811 ANKRD20A1 AU Uncertain 9_68372337_C->T 9 68372337 68372337 C T snp 429.77 0/1 99 198 163 35 0.18 intergenic rs112952566 ANKRD20A1 AU Uncertain 9_68372352_G->A 9 68372352 68372352 G A snp 353.77 0/1 99 213 183 30 0.14 intergenic rs78404990 ANKRD20A1 AU Uncertain 9_68372354_A->G 9 68372354 68372354 A G snp 415.77 0/1 99 210 175 35 0.17 intergenic rs1906355 ANKRD20A1 AU Uncertain 9_68372357_T->C 9 68372357 68372357 T C snp 2709.77 0/1 99 212 79 133 0.63 intergenic rs77799799 ANKRD20A1 AU Uncertain 9_68372367_C->A 9 68372367 68372367 C A snp 390.77 0/1 99 215 184 31 0.14 intergenic rs1906354 ANKRD20A1 AU Uncertain 9_68372401_C->T 9 68372401 68372401 C T snp 201.77 0/1 99 193 173 20 0.1 intergenic rs75707116 ANKRD20A1 AU 0.000399361 Uncertain 9_68372402_G->A 9 68372402 68372402 G A snp 2003.77 0/1 99 191 92 99 0.52 intergenic rs78803668 ANKRD20A1 AU Uncertain 9_68372407_T->C 9 68372407 68372407 T C snp 76.77 0/1 99 183 169 14 0.08 intergenic rs74366995 ANKRD20A1 AU Uncertain 9_68372409_G->A 9 68372409 68372409 G A snp 87.77 0/1 99 180 167 13 0.07 intergenic ANKRD20A1 AU Uncertain 9_68372413_G->A 9 68372413 68372413 G A snp 98.77 0/1 99 176 163 13 0.07 intergenic rs77458778 ANKRD20A1 AU Uncertain 9_68372420_C->G 9 68372420 68372420 C G snp 393.77 0/1 99 164 136 28 0.17 intergenic rs77874833 ANKRD20A1 AU Uncertain 9_68372430_G->A 9 68372430 68372430 G A snp 411.77 0/1 99 149 121 28 0.19 intergenic rs376337921 ANKRD20A1 AU Uncertain 9_68372434_C->T 9 68372434 68372434 C T snp 421.77 0/1 99 142 114 28 0.2 intergenic rs368849262 ANKRD20A1 AU Uncertain 9_68372441_C->T 9 68372441 68372441 C T snp 391.77 0/1 99 122 96 26 0.21 intergenic rs371275705 ANKRD20A1 AU Uncertain 9_68372499_G->A 9 68372499 68372499 G A snp 618.77 0/1 99 30 8 22 0.73 intergenic rs139770163 ANKRD20A1 AU Uncertain 9_68372516_G->A 9 68372516 68372516 G A snp 253.77 0/1 99 15 5 10 0.67 intergenic rs142133412 ANKRD20A1 AU Uncertain 9_68409584_C->T 9 68409584 68409584 C T snp 195.77 0/1 99 33 22 11 0.33 intergenic rs760310803 ANKRD20A1 AU Uncertain 9_68409590_C->T 9 68409590 68409590 C T snp 225.77 0/1 99 38 24 14 0.37 intergenic rs772773000 ANKRD20A1 AU Uncertain 9_68409602_G->C 9 68409602 68409602 G C snp 324.77 0/1 99 42 22 20 0.48 intergenic rs753340519 ANKRD20A1 AU Uncertain 9_68409623_G->A 9 68409623 68409623 G A snp 347.77 0/1 99 47 22 25 0.53 intergenic rs376674886 ANKRD20A1 AU Uncertain 9_68409631_T->C 9 68409631 68409631 T C snp 410.77 0/1 99 49 22 27 0.55 intergenic rs78137483 ANKRD20A1 AU Uncertain 9_68409659_C->G 9 68409659 68409659 C G snp 514.77 0/1 99 51 18 33 0.65 intergenic rs34008877 ANKRD20A1 AU Uncertain 9_68409677_A->G 9 68409677 68409677 A G snp 684.77 0/1 99 63 17 46 0.73 intergenic rs113826078 ANKRD20A1 AU Uncertain 9_68409683_C->A 9 68409683 68409683 C A snp 34.77 0/1 63 68 60 8 0.12 intergenic ANKRD20A1 AU Uncertain 9_68409701_C->T 9 68409701 68409701 C T snp 172.77 0/1 99 78 60 18 0.23 intergenic rs112537853 ANKRD20A1 AU Uncertain 9_68409702_C->G 9 68409702 68409702 C G snp 630.77 0/1 99 78 38 40 0.51 intergenic rs79189381 ANKRD20A1 AU 0.480032 0.4851 Uncertain 9_68409710_A->T 9 68409710 68409710 A T snp 120.77 0/1 99 82 68 14 0.17 intergenic ANKRD20A1 AU Uncertain 9_68409722_C->T 9 68409722 68409722 C T snp 117.77 0/1 99 78 64 14 0.18 intergenic rs200340791 ANKRD20A1 AU Uncertain 9_68409731_A->G 9 68409731 68409731 A G snp 331.77 0/1 99 76 50 26 0.34 intergenic rs80207175 ANKRD20A1 AU Uncertain 9_68409742_T->C 9 68409742 68409742 T C snp 166.77 0/1 99 73 52 21 0.29 intergenic ANKRD20A1 AU Uncertain 9_68409745_C->G 9 68409745 68409745 C G snp 623.77 0/1 99 74 18 56 0.76 intergenic rs73649016 ANKRD20A1 AU 0.444688 0.4355 Uncertain 9_68409783_A->C 9 68409783 68409783 A C snp 359.77 0/1 99 64 35 29 0.45 intergenic rs202031579 ANKRD20A1 AU Uncertain 9_68409789_G->C 9 68409789 68409789 G C snp 776.77 0/1 99 63 21 42 0.67 intergenic rs79786341 ANKRD20A1 AU Uncertain 9_68409808_T->C 9 68409808 68409808 T C snp 139.77 0/1 99 61 45 16 0.26 intergenic ANKRD20A1 AU Uncertain 9_68409869_C->T 9 68409869 68409869 C T snp 31.77 0/1 60 19 15 4 0.21 intergenic rs78838824 ANKRD20A1 AU Uncertain 9_68415122_G->A 9 68415122 68415122 G A snp 81.28 1/1 9 3 0 3 1.0 upstream;downstream rs4385572 MIR4477B;MIR4477A UN Uncertain 9_68415170_C->T 9 68415170 68415170 C T snp 119.77 0/1 99 41 35 6 0.15 upstream;downstream rs74332168 MIR4477B;MIR4477A UN Uncertain 9_68415193_T->A 9 68415193 68415193 T A snp 1936.77 0/1 99 96 26 70 0.73 upstream;downstream rs80256038 MIR4477B;MIR4477A UN Uncertain 9_68415196_C->T 9 68415196 68415196 C T snp 277.77 0/1 99 100 83 17 0.17 upstream;downstream rs4454394 MIR4477B;MIR4477A UN Uncertain 9_68415212_A->T 9 68415212 68415212 A T snp 465.77 0/1 99 153 114 39 0.25 upstream;downstream rs143303312 MIR4477B;MIR4477A UN Uncertain 9_68415216_G->A 9 68415216 68415216 G A snp 1301.77 0/1 99 170 105 65 0.38 upstream;downstream rs71234092 MIR4477B;MIR4477A UN Uncertain 9_68415293_T->C 9 68415293 68415293 T C snp 145.77 0/1 99 249 228 21 0.08 upstream;downstream rs35922576 MIR4477B;MIR4477A UN 0.1011 0.1368 Uncertain 9_68415318_G->A 9 68415318 68415318 G A snp 156.77 0/1 99 246 223 23 0.09 ncRNA_exonic rs35282198 MIR4477A AU 0.1101 0.15 Uncertain 9_68415338_A->C 9 68415338 68415338 A C snp 475.77 0/1 99 218 184 34 0.16 ncRNA_exonic rs75019967 MIR4477A AU 0.2874 0.3304 Uncertain 9_68415352_A->G 9 68415352 68415352 A G snp 264.77 0/1 99 191 168 23 0.12 ncRNA_exonic rs77109690 MIR4477A AU 0.2220 0.2429 Uncertain 9_68415354_G->T 9 68415354 68415354 G T snp 178.77 0/1 99 179 159 20 0.11 ncRNA_exonic rs146147878 MIR4477A AU 0.0102 0.0104 Uncertain 9_68415386_G->A 9 68415386 68415386 G A snp 283.77 0/1 99 89 69 20 0.22 ncRNA_exonic rs1844035 MIR4477A AU 0.4737 0.4648 Uncertain 9_68415388_A->T 9 68415388 68415388 A T snp 1400.77 0/1 99 86 29 57 0.66 ncRNA_exonic rs4928837 MIR4477A AU 0.5047 0.5066 Uncertain 9_68415397_T->C 9 68415397 68415397 T C snp 115.77 0/1 99 78 67 11 0.14 upstream;downstream rs78037260 MIR4477A;MIR4477B UN 0.0226 0.0111 Uncertain 9_68427703_G->A 9 68427703 68427703 G A snp 219.03 0/1 12 10 2 8 0.8 downstream rs62543285 LOC642236 AU Uncertain 9_68427750_T->C 9 68427750 68427750 T C snp 107.77 0/1 99 171 156 15 0.09 downstream rs78840873 LOC642236 AU Uncertain 9_68427764_G->T 9 68427764 68427764 G T snp 661.77 0/1 99 243 192 51 0.21 downstream rs80308038 LOC642236 AU Uncertain 9_68427786_C->T 9 68427786 68427786 C T snp 5201.77 0/1 99 250 34 216 0.86 ncRNA_exonic rs4300101 LOC642236 AU Uncertain 9_68427877_G->A 9 68427877 68427877 G A snp 3755.77 0/1 99 244 106 138 0.57 ncRNA_exonic rs4568707 LOC642236 AU Uncertain 9_68427892_T->C 9 68427892 68427892 T C snp 674.77 0/1 99 236 187 49 0.21 ncRNA_exonic LOC642236 AU Uncertain 9_68427905_T->C 9 68427905 68427905 T C snp 692.77 0/1 99 227 175 52 0.23 ncRNA_intronic rs74370697 LOC642236 AU Uncertain 9_68427942_T->C 9 68427942 68427942 T C snp 191.77 0/1 99 103 78 25 0.24 ncRNA_intronic rs78642457 LOC642236 AU Uncertain 9_68427956_T->C 9 68427956 68427956 T C snp 1769.77 0/1 99 81 15 66 0.81 ncRNA_intronic rs4316243 LOC642236 AU 0.421925 0.4474 Uncertain 9_68428005_G->C 9 68428005 68428005 G C snp 91.77 0/1 99 33 22 11 0.33 ncRNA_intronic rs77542827 LOC642236 AU Uncertain 9_68433462_T->C 9 68433462 68433462 T C snp 1599.77 0/1 99 250 162 88 0.35 ncRNA_splicing rs111392331 LOC642236 AU Uncertain 9_68433464_C->T 9 68433464 68433464 C T snp 1139.77 0/1 99 250 184 66 0.26 ncRNA_splicing rs79004307 LOC642236 AU Uncertain 9_68433468_G->C 9 68433468 68433468 G C snp 1017.77 0/1 99 250 181 69 0.28 ncRNA_exonic rs75281072 LOC642236 AU Uncertain 9_68433510_C->G 9 68433510 68433510 C G snp 841.77 0/1 99 248 190 58 0.23 ncRNA_exonic rs75661796 LOC642236 AU Uncertain 9_68433511_C->T 9 68433511 68433511 C T snp 117.77 0/1 99 249 223 26 0.1 ncRNA_exonic rs202018667 LOC642236 AU Uncertain 9_68433520_T->C 9 68433520 68433520 T C snp 123.77 0/1 99 250 222 28 0.11 ncRNA_exonic LOC642236 AU Uncertain 9_68433522_G->A 9 68433522 68433522 G A snp 611.77 0/1 99 250 209 41 0.16 ncRNA_exonic rs75582795 LOC642236 AU 0.00299521 Uncertain 9_68433523_T->C 9 68433523 68433523 T C snp 5204.77 0/1 99 250 53 197 0.79 ncRNA_exonic rs62543350 LOC642236 AU 0.334864 0.5188 Uncertain 9_68433537_T->G 9 68433537 68433537 T G snp 4249.77 0/1 99 250 51 199 0.8 ncRNA_exonic rs74819687 LOC642236 AU Uncertain 9_68433548_C->T 9 68433548 68433548 C T snp 64.77 0/1 93 250 230 20 0.08 ncRNA_exonic LOC642236 AU Uncertain 9_68433550_A->G 9 68433550 68433550 A G snp 557.77 0/1 99 250 214 36 0.14 ncRNA_exonic rs144797473 LOC642236 AU Uncertain 9_68433556_G->T 9 68433556 68433556 G T snp 539.77 0/1 99 250 210 40 0.16 ncRNA_exonic rs76632075 LOC642236 AU Uncertain 9_68433567_C->T 9 68433567 68433567 C T snp 241.77 0/1 99 250 219 31 0.12 ncRNA_splicing LOC642236 AU Uncertain 9_68433568_T->C 9 68433568 68433568 T C snp 351.77 0/1 99 250 219 31 0.12 ncRNA_splicing rs139880713 LOC642236 AU Uncertain 9_68433612_A->G 9 68433612 68433612 A G snp 482.77 0/1 99 248 176 72 0.29 ncRNA_intronic rs76007226 LOC642236 AU Uncertain 9_68433620_C->T 9 68433620 68433620 C T snp 1368.77 0/1 99 239 179 60 0.25 ncRNA_intronic rs62543351 LOC642236 AU Uncertain 9_68433625_A->G 9 68433625 68433625 A G snp 81.77 0/1 99 235 216 19 0.08 ncRNA_intronic rs139088975 LOC642236 AU Uncertain 9_68433633_G->C 9 68433633 68433633 G C snp 931.77 0/1 99 227 184 43 0.19 ncRNA_intronic rs113074200 LOC642236 AU Uncertain 9_68433635_C->T 9 68433635 68433635 C T snp 105.77 0/1 99 225 188 37 0.16 ncRNA_intronic rs192109483 LOC642236 AU Uncertain 9_68433641_G->T 9 68433641 68433641 G T snp 2968.77 0/1 99 218 82 136 0.62 ncRNA_intronic rs78330154 LOC642236 AU Uncertain 9_68433657_A->C 9 68433657 68433657 A C snp 111.77 0/1 99 202 166 36 0.18 ncRNA_intronic rs141211711 LOC642236 AU Uncertain 9_68433673_A->G 9 68433673 68433673 A G snp 38.77 0/1 67 186 173 13 0.07 ncRNA_intronic rs150998881 LOC642236 AU Uncertain 9_68433701_A->G 9 68433701 68433701 A G snp 758.77 0/1 99 157 126 31 0.2 ncRNA_intronic rs62543352 LOC642236 AU Uncertain 9_68433707_C->A 9 68433707 68433707 C A snp 178.77 0/1 99 133 112 21 0.16 ncRNA_intronic rs78835318 LOC642236 AU Uncertain 9_68433749_G->A 9 68433749 68433749 G A snp 298.77 0/1 78 13 3 10 0.77 ncRNA_intronic rs78330073 LOC642236 AU Uncertain 9_69002148_C->G 9 69002148 69002148 C G snp 73.82 0/1 19 4 1 3 0.75 downstream rs11263025 MIR1299 AU Uncertain 9_69002193_T->C 9 69002193 69002193 T C snp 399.77 0/1 99 27 12 15 0.56 downstream rs75969422 MIR1299 AU 0.4868 0.5 Uncertain 9_69002200_C->T 9 69002200 69002200 C T snp 245.77 0/1 99 38 27 11 0.29 downstream rs10908046 MIR1299 AU 0.4907 0.5 Uncertain 9_69002208_C->G 9 69002208 69002208 C G snp 235.77 0/1 99 60 47 13 0.22 downstream MIR1299 AU Uncertain 9_69002211_G->A 9 69002211 69002211 G A snp 342.77 0/1 99 62 43 19 0.31 downstream rs150315528 MIR1299 AU Uncertain 9_69002219_T->C 9 69002219 69002219 T C snp 338.77 0/1 99 75 58 17 0.23 downstream MIR1299 AU Uncertain 9_69002230_G->T 9 69002230 69002230 G T snp 548.77 0/1 99 103 73 30 0.29 downstream MIR1299 AU Uncertain 9_69002274_G->T 9 69002274 69002274 G T snp 920.77 0/1 99 154 101 53 0.34 ncRNA_exonic rs768722369 MIR1299 AU 0.0024 0 Uncertain 9_69002276_C->G 9 69002276 69002276 C G snp 940.77 0/1 99 155 102 53 0.34 ncRNA_exonic rs776919630 MIR1299 AU 0.0023 0 Uncertain 9_69002283_A->T 9 69002283 69002283 A T snp 917.77 0/1 99 162 111 51 0.31 ncRNA_exonic rs773681988 MIR1299 AU 0.0027 0 Uncertain 9_69002294_C->T 9 69002294 69002294 C T snp 991.77 0/1 99 167 116 51 0.31 ncRNA_exonic rs79965448 MIR1299 AU 0.4864 0.5 Uncertain 9_69002295_G->A 9 69002295 69002295 G A snp 911.77 0/1 99 168 112 56 0.33 ncRNA_exonic rs200401671 MIR1299 AU 0.0025 0 Uncertain 9_69002304_C->G 9 69002304 69002304 C G snp 1897.77 0/1 99 176 64 112 0.64 ncRNA_exonic rs78546776 MIR1299 AU 0.0729 0.3333 Uncertain 9_69002317_T->C 9 69002317 69002317 T C snp 2973.77 0/1 99 195 68 127 0.65 ncRNA_exonic rs76266132 MIR1299 AU 0.4904 0.5 Uncertain 9_69002413_T->C 9 69002413 69002413 T C snp 1866.77 0/1 99 121 48 73 0.6 upstream rs62555122 MIR1299 AU Uncertain 9_69002414_G->A 9 69002414 69002414 G A snp 885.77 0/1 99 120 82 38 0.32 upstream MIR1299 AU Uncertain 9_69002416_G->A 9 69002416 69002416 G A snp 893.77 0/1 99 119 80 39 0.33 upstream MIR1299 AU Uncertain 9_69002423_G->A 9 69002423 69002423 G A snp 1802.77 0/1 99 117 47 70 0.6 upstream rs62555123 MIR1299 AU Uncertain 9_69002425_T->C 9 69002425 69002425 T C snp 888.77 0/1 99 116 78 38 0.33 upstream MIR1299 AU Uncertain 9_69002453_C->A 9 69002453 69002453 C A snp 806.77 0/1 99 85 52 33 0.39 upstream MIR1299 AU Uncertain 9_69002463_G->C 9 69002463 69002463 G C snp 519.77 0/1 99 62 40 22 0.35 upstream MIR1299 AU Uncertain 9_69002491_G->A 9 69002491 69002491 G A snp 98.77 0/1 99 14 10 4 0.29 upstream MIR1299 AU Uncertain 9_69256816_G->A 9 69256816 69256816 G A snp 270.8 1/1 21 22 9 13 0.59 exonic rs62557779 CBWD6 AU synonymous SNV NM_001085457 exon3 c.C315T p.N105N 0.396565 0.4712 0.5187 0.5304 ID=COSM4163967,COSM4163968;OCCURENCE=1(thyroid) Uncertain 9_71002554_G->C 9 71002554 71002554 G C snp 1235.77 0/1 99 105 59 46 0.44 intronic PGM5 AU NM_021965 exon4 c.30461+50G>C 0.109824 0.1389 0.0659 0.0716 Uncertain 9_71395013_C->G 9 71395013 71395013 C G snp 103.77 0/1 99 17 11 6 0.35 UTR5 rs3750377 FAM122A AU 0.0826677 0.2103 Uncertain 9_71437571_A->G 9 71437571 71437571 A G snp 800.77 0/1 99 52 18 34 0.65 exonic rs149605332 PIP5K1B AU nonsynonymous SNV NM_001278253 exon3 c.A41G p.K14R 0.0105831 0.0516 0.0033 0.0372 0.24 T 0.983 N -1.086 T 0.454 P 0.057 P Pathogenic 9_71478986_G->T 9 71478986 71478986 G T snp 107.77 0/1 99 9 5 4 0.44 intronic rs10869434 PIP5K1B AU NM_003558 exon5 c.41353+103G>T 0.340256 0.248 Uncertain 9_71491821_G->A 9 71491821 71491821 G A snp 222.84 1/1 18 6 0 6 1.0 intronic rs4745358 PIP5K1B AU NM_003558 exon6 c.54180+111G>A 0.979034 1 Uncertain 9_71509238_-->T 9 71509238 71509238 - T indel 494.73 0/1 99 76 52 24 0.32 intronic rs142645474 PIP5K1B AU NM_003558 exon8 c.71724-16insT 0.0866613 0.2212 0.038954 0.0745 0.2529 Uncertain 9_71538069_A->G 9 71538069 71538069 A G snp 1416.77 1/1 99 49 0 49 1.0 intronic rs2027208 PIP5K1B AU NM_003558 exon12 c.100687-148A>G 0.942692 0.9851 Uncertain 9_71555492_A->G 9 71555492 71555492 A G snp 565.77 0/1 99 55 32 23 0.42 intronic rs10746973 PIP5K1B AU NM_003558 exon14 c.118031-69A>G 0.729633 0.6042 Uncertain 9_71555522_C->T 9 71555522 71555522 C T snp 984.77 0/1 99 89 51 38 0.43 intronic rs10746974 PIP5K1B AU NM_003558 exon14 c.118031-39C>T 0.707668 0.6042 0.768722 0.8017 0.5888 Uncertain 9_71606315_G->A 9 71606315 71606315 G A snp 94.28 1/1 9 3 0 3 1.0 intronic rs2297231 PIP5K1B AU NM_003558 exon15 c.168643+142G>A 0.411342 0.5536 Uncertain 9_71629038_-->GCGGCGGCG 9 71629038 71629038 - GCGGCGGCG indel 1454.73 1/1 66 54 0 54 1.0 UTR5 rs752732570 PRKACG AR 0.0059 0 Uncertain 9_71650752_A->G 9 71650752 71650752 A G snp 792.77 1/1 57 30 0 30 1.0 exonic rs2481598 FXN AR synonymous SNV NM_000144 exon1 c.A54G p.P18P 0.984824 1 0.9993 1 Uncertain 9_71667986_G->A 9 71667986 71667986 G A snp 201.77 0/1 60 10 2 8 0.8 intronic rs7865353 FXN AR NM_000144 exon3 c.17357-69G>A 0.349241 0.3631 Uncertain 9_71668197_T->C 9 71668197 71668197 T C snp 990.77 0/1 99 59 19 40 0.68 intronic rs3829062 FXN AR NM_000144 exon3 c.17478+21T>C 0.501597 0.5645 0.472244 0.5181 0.5714 Uncertain 9_71668374_G->A 9 71668374 71668374 G A snp 119.78 0/1 27 5 1 4 0.8 intronic rs3829063 FXN AR NM_000144 exon3 c.17478+198G>A 0.102037 0.2312 Uncertain 9_71686181_T->C 9 71686181 71686181 T C snp 1644.77 0/1 99 144 73 71 0.49 intronic rs9314854 FXN AR NM_000144 exon5 c.36829-1346T>C 0.602436 0.6429 0.522323 0.5049 0.6491 Uncertain 9_71687400_-->TG 9 71687400 71687400 - TG indel 441.73 0/1 99 15 5 10 0.67 intronic rs3066313 FXN AR NM_000144 exon5 c.36829-127insTG 0.564497 0.6448 Uncertain 9_71687440_C->T 9 71687440 71687440 C T snp 392.77 0/1 99 27 10 17 0.63 intronic rs7025834 FXN AR NM_000144 exon5 c.36829-87C>T 0.467053 0.5694 Uncertain 9_71714563_G->A 9 71714563 71714563 G A snp 136.03 1/1 12 4 0 4 1.0 intergenic rs34965002 FXN AR 0.473842 0.5992 Uncertain 9_71714693_C->T 9 71714693 71714693 C T snp 3704.77 1/1 99 135 0 135 1.0 intergenic rs10121021 FXN AR 0.439097 0.5992 Uncertain 9_71789156_C->T 9 71789156 71789156 C T snp 1312.77 1/1 96 47 0 47 1.0 UTR5 rs13301644 TJP2 AR,AU 0.441693 0.62 Uncertain 9_71789386_-->CGTGAG 9 71789386 71789386 - CGTGAG indel 3951.73 1/1 99 67 0 67 1.0 intronic rs144607139 TJP2 AR,AU NM_001170630 exon1 c.60+38insCGTGAG 0.438698 0.6161 0.344300 0.4021 0.6305 Uncertain 9_71820008_A->G 9 71820008 71820008 A G snp 810.77 1/1 60 24 0 24 1.0 intronic rs2498440 TJP2 AR,AU NM_001170630 exon2 c.38175-7455A>G 0.877396 0.9266 Uncertain 9_71820048_G->A 9 71820048 71820048 G A snp 373.77 0/1 99 43 26 17 0.4 intronic rs117931408 TJP2 AR,AU NM_001170415 exon1 c.72-101G>A 0.00219649 0.0109 0.0002 0 Uncertain 9_71820148_G->A 9 71820148 71820148 G A snp 957.77 0/1 99 102 60 42 0.41 intronic rs4493966 TJP2 AR,AU NM_001170415 exon1 c.72-1G>A 0.0623003 0.0546 0.030880 0.0382 0.0299 0.12 T 1.000 P -0.947 T 0.0 T 0.001 T CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000037080.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 9_71827618_T->C 9 71827618 71827618 T C snp 1769.77 1/1 99 54 0 54 1.0 intronic rs34883177 TJP2 AR,AU NM_001170416 exon2 c.7440+101T>C 0.406949 0.619 Uncertain 9_71831398_T->C 9 71831398 71831398 T C snp 974.77 1/1 72 32 0 32 1.0 intronic rs2498417 TJP2 AR,AU NM_001170416 exon3 c.11302+19T>C 0.894169 0.9236 0.903814 0.9209 0.9381 Uncertain 9_71841175_G->C 9 71841175 71841175 G C snp 1087.77 0/1 99 74 31 43 0.58 intronic rs138455866 TJP2 AR,AU NM_001170416 exon7 c.21014+84G>C 0.00279553 0.0129 Uncertain 9_71843023_C->A 9 71843023 71843023 C A snp 2349.77 1/1 99 88 0 88 1.0 exonic rs2309428 TJP2 AR,AU nonsynonymous SNV NM_004817 exon9 c.C1446A p.D482E 0.772165 0.874 0.758035 0.8115 0.8926 1 T 0.000 P -0.968 T 0.001 T 0.003 T CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000037067.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 9_71852760_G->A 9 71852760 71852760 G A snp 1468.77 0/1 99 148 84 64 0.43 intronic rs2309421 TJP2 AR,AU NM_001170416 exon15 c.32716-33G>A 0.285543 0.4554 0.196448 0.2625 0.4416 Uncertain 9_71854727_C->G 9 71854727 71854727 C G snp 80.77 0/1 69 5 2 3 0.6 intronic rs10867196 TJP2 AR,AU NM_001170416 exon17 c.34775-125C>G 0.319888 0.4554 Uncertain 9_71854738_AAAC->- 9 71854738 71854741 AAAC - indel 345.73 0/1 99 12 5 7 0.58 intronic rs141823769 TJP2 AR,AU NM_001170416 exon17 c.34775-114_34775-111delAAAC 0.66254 0.625 Uncertain 9_71854769_C->G 9 71854769 71854769 C G snp 565.77 0/1 99 38 20 18 0.47 intronic rs2993823 TJP2 AR,AU NM_001170416 exon17 c.34775-83C>G 0.665335 0.625 Uncertain 9_71855122_G->A 9 71855122 71855122 G A snp 80.77 0/1 69 5 2 3 0.6 intronic rs7035000 TJP2 AR,AU NM_001170416 exon17 c.34986+59G>A 0.720048 0.6319 Uncertain 9_71862975_C->T 9 71862975 71862975 C T snp 876.77 0/1 99 70 36 34 0.49 exonic rs2282336 TJP2 AR,AU synonymous SNV NM_004817 exon19 c.C2715T p.T905T 0.284145 0.4514 0.197524 0.2614 0.4370 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000037081.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 9_71862987_G->A 9 71862987 71862987 G A snp 877.77 0/1 99 74 39 35 0.47 exonic rs2095876 TJP2 AR,AU synonymous SNV NM_004817 exon19 c.G2727A p.A909A 0.284145 0.4504 0.197370 0.2606 0.4348 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000037082.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 9_71986315_T->C 9 71986315 71986315 T C snp 1335.77 1/1 99 41 0 41 1.0 intronic rs1034239 FAM189A2 AU NM_001127608 exon3 c.35241-99T>C 0.822484 0.7411 0.798255 0.8154 0.7493 Uncertain 9_71986316_G->A 9 71986316 71986316 G A snp 1457.77 1/1 99 45 0 45 1.0 intronic rs1034238 FAM189A2 AU NM_001127608 exon3 c.35241-98G>A 0.365016 0.3512 0.307679 0.4108 0.3764 1 T 0.0 P -0.973 T Uncertain 9_71990645_C->T 9 71990645 71990645 C T snp 2327.77 1/1 99 80 0 80 1.0 intronic rs4351475 FAM189A2 AU NM_001127608 exon4 c.39478-6C>T 0.313099 0.3611 0.305321 0.3949 0.3870 Uncertain 9_72003036_T->C 9 72003036 72003036 T C snp 4744.77 1/1 99 169 0 169 1.0 intronic rs867366 FAM189A2 AU NM_001127608 exon10 c.51900-37T>C 0.365415 0.3631 0.364524 0.4128 0.3906 Uncertain 9_72064749_T->C 9 72064749 72064749 T C snp 1083.77 1/1 78 39 0 39 1.0 intronic APBA1 AU NM_001163 exon4 c.18470+37T>C 0.972644 1 0.941642 0.9466 0.9997 Uncertain 9_72086385_G->A 9 72086385 72086385 G A snp 423.77 0/1 99 32 18 14 0.44 intronic APBA1 AU NM_001163 exon10 c.40329-186G>A 0.00858626 0.0298 Uncertain 9_72132199_G->A 9 72132199 72132199 G A snp 348.78 1/1 27 12 0 12 1.0 splicing rs11139063 APBA1 AU NM_001163 exon12 c.85953+4G>A 0.523562 0.5833 Pathogenic 9_72338180_T->C 9 72338180 72338180 T C snp 879.77 0/1 99 44 15 29 0.66 intronic rs11139996 PTAR1 AU NM_001099666 exon3 c.4984-61T>C 0.873003 0.9028 Uncertain 9_72373624_A->G 9 72373624 72373624 A G snp 3500.77 1/1 99 144 0 144 1.0 intronic rs10735564 PTAR1 AU NM_001099666 exon8 c.41511-1144A>G 1 1 1 1 Uncertain 9_72373716_G->C 9 72373716 72373716 G C snp 259.77 0/1 99 33 22 11 0.33 intronic rs10780612 PTAR1 AU NM_001099666 exon8 c.41511-1052G>C 0.411542 0.5625 Uncertain 9_72373752_A->C 9 72373752 72373752 A C snp 37.77 0/1 66 4 2 2 0.5 intronic rs10780613 PTAR1 AU NM_001099666 exon8 c.41511-1016A>C 0.411741 0.5625 Uncertain 9_72374677_T->G 9 72374677 72374677 T G snp 726.77 0/1 99 63 35 28 0.44 intronic rs2274745 PTAR1 AU NM_001099666 exon8 c.41511-91T>G 0.890575 0.9028 Uncertain 9_72374941_C->A 9 72374941 72374941 C A snp 89.77 0/1 99 18 13 5 0.28 upstream rs2274744 PTAR1 AU 0.408347 0.5615 Uncertain 9_72374969_T->C 9 72374969 72374969 T C snp 74.77 0/1 99 7 4 3 0.43 upstream rs2252130 PTAR1 AU 0.891573 0.9038 Uncertain 9_72472747_A->- 9 72472747 72472747 A - indel 1345.73 1/1 99 34 0 34 1.0 intronic rs35585376 C9orf135 AU NM_001010940 exon4 c.37029-77delA 0.607428 0.8363 Uncertain 9_72472831_C->T 9 72472831 72472831 C T snp 1130.77 0/1 99 135 80 55 0.41 exonic rs10780682 C9orf135 AU synonymous SNV NM_001010940 exon4 c.C387T p.T129T 0.270567 0.4067 0.268722 0.3012 0.3896 1.000 P -0.933 T ID=COSM3763973;OCCURENCE=1(large_intestine) Likely benign 9_72473053_T->C 9 72473053 72473053 T C snp 1063.77 1/1 78 29 0 29 1.0 intronic rs1133275 C9orf135 AU NM_001010940 exon4 c.37098+160T>C 0.66873 0.8353 Uncertain 9_72473054_G->A 9 72473054 72473054 G A snp 1000.77 1/1 75 29 0 29 1.0 intronic rs1133276 C9orf135 AU NM_001010940 exon4 c.37098+161G>A 0.40635 0.5734 Uncertain 9_72501698_G->T 9 72501698 72501698 G T snp 1889.77 1/1 99 64 0 64 1.0 intronic rs4407955 C9orf135 AU NM_001010940 exon5 c.65958-55G>T 0.827875 0.8413 0.851884 Uncertain 9_72501962_T->C 9 72501962 72501962 T C snp 1185.77 1/1 87 34 0 34 1.0 intronic rs4548246 C9orf135 AU NM_001010940 exon5 c.66016+151T>C 0.675919 0.8383 Uncertain 9_72658903_C->T 9 72658903 72658903 C T snp 434.77 1/1 36 13 0 13 1.0 UTR5 MAMDC2 AU 0.11222 0.2202 Uncertain 9_72659303_GGGGTG->- 9 72659303 72659308 GGGGTG - indel 469.74 1/1 27 12 0 12 1.0 intronic MAMDC2 AU NM_153267 exon1 c.34+156_34+161delGGGGTG 0.894369 0.8651 Uncertain 9_72723062_G->A 9 72723062 72723062 G A snp 919.77 0/1 99 72 37 35 0.49 intronic MAMDC2 AU NM_153267 exon3 c.64013-64G>A 0.164936 0.1915 Uncertain 9_72723537_A->G 9 72723537 72723537 A G snp 56.74 1/1 6 2 0 2 1.0 intronic MAMDC2 AU NM_153267 exon3 c.64285+139A>G 0.114018 0.2044 Uncertain 9_72727827_T->A 9 72727827 72727827 T A snp 1425.77 1/1 99 44 0 44 1.0 intronic MAMDC2 AU NM_153267 exon5 c.68797-83T>A 0.109824 0.2014 Uncertain 9_72740974_A->G 9 72740974 72740974 A G snp 2092.77 1/1 99 69 0 69 1.0 intronic MAMDC2 AU NM_153267 exon6 c.81961-100A>G 0.938698 1 Uncertain 9_72741247_C->T 9 72741247 72741247 C T snp 581.77 0/1 99 77 50 27 0.35 exonic MAMDC2 AU synonymous SNV NM_153267 exon6 c.C816T p.Y272Y 0.101238 0.2044 0.057204 0.0915 0.2001 Uncertain 9_72741298_G->A 9 72741298 72741298 G A snp 332.77 0/1 99 51 35 16 0.31 exonic MAMDC2 AU synonymous SNV NM_153267 exon6 c.G867A p.A289A 0.101038 0.2044 0.057127 0.0913 0.1989 Uncertain 9_72741312_G->A 9 72741312 72741312 G A snp 1131.77 1/1 81 38 0 38 1.0 exonic MAMDC2 AU nonsynonymous SNV NM_153267 exon6 c.G881A p.S294N 0.866014 1 0.839305 0.9220 0.9998 0.63 T 0.001 P -0.943 T 0.011 T 0.029 T ID=COSM4164000;OCCURENCE=1(thyroid) Pathogenic 9_72755129_AAA->- 9 72755129 72755131 AAA - indel 10056.7 1/1 99 165 2 163 0.99 exonic rs61609258 MAMDC2 AU nonframeshift deletion NM_153267 exon8 c.1063_1065del p.355_355del 0.104034 0.2153 0.057748 0.0928 0.2152 Uncertain 9_72758742_C->T 9 72758742 72758742 C T snp 1628.77 1/1 99 52 0 52 1.0 intronic MAMDC2 AU NM_153267 exon9 c.99622+7C>T 0.104233 0.2153 0.057435 0.0937 0.2154 Uncertain 9_72758785_T->A 9 72758785 72758785 T A snp 350.78 1/1 27 12 0 12 1.0 intronic MAMDC2 AU NM_153267 exon9 c.99622+50T>A 0.104233 0.2153 0.057154 0.0925 0.2156 Uncertain 9_72783608_T->C 9 72783608 72783608 T C snp 4989.77 1/1 99 176 1 175 0.99 ncRNA_intronic MAMDC2-AS1 AU 0.861621 0.9484 0.845994 0.8825 0.9535 Uncertain 9_72783733_CT->- 9 72783733 72783734 CT - indel 9118.73 1/1 99 214 0 214 1.0 ncRNA_intronic rs112914906 MAMDC2-AS1 AU 0.104832 0.2183 0.057907 0.0936 0.2194 Uncertain 9_72785653_T->G 9 72785653 72785653 T G snp 596.77 1/1 45 19 0 19 1.0 ncRNA_intronic MAMDC2-AS1 AU 0.935503 0.9861 Uncertain 9_72833624_C->T 9 72833624 72833624 C T snp 135.03 1/1 12 4 0 4 1.0 ncRNA_intronic rs1927096 SMC5-AS1 AU 0.861821 0.9484 Uncertain 9_72879475_C->T 9 72879475 72879475 C T snp 427.77 1/1 33 12 0 12 1.0 intronic rs1180101 SMC5 AU NM_015110 exon2 c.5367+114C>T 0.246206 0.2659 Uncertain 9_72897434_G->A 9 72897434 72897434 G A snp 1059.77 1/1 75 43 0 43 1.0 exonic rs1180116 SMC5 AU nonsynonymous SNV NM_015110 exon7 c.G916A p.V306I 0.855032 0.8532 0.855759 0.8824 0.8613 0.57 T 0.0 P -1.035 T 0.0 T 0.001 T Pathogenic 9_72897440_T->C 9 72897440 72897440 T C snp 1106.77 1/1 78 44 0 44 1.0 exonic rs1180117 SMC5 AU nonsynonymous SNV NM_015110 exon7 c.T922C p.C308R 0.246006 0.2659 0.215362 0.2104 0.2631 0.57 T 0.0 P -0.917 T 0.0 T 0.0 T Pathogenic 9_72901096_T->C 9 72901096 72901096 T C snp 3740.77 1/1 99 134 0 134 1.0 intronic rs1180123 SMC5 AU NM_015110 exon8 c.27121-19T>C 0.978235 1 0.974850 0.9933 1 Uncertain 9_72929769_C->T 9 72929769 72929769 C T snp 185.9 1/1 15 6 0 6 1.0 intronic rs11142363 SMC5 AU NM_015110 exon12 c.55758+17C>T 0.246406 0.2669 0.200170 0.2222 0.2738 Uncertain 9_72933958_G->C 9 72933958 72933958 G C snp 1166.77 1/1 84 38 0 38 1.0 intronic rs7025228 SMC5 AU NM_015110 exon15 c.59885+79G>C 0.978235 1 Uncertain 9_72965438_A->G 9 72965438 72965438 A G snp 1083.77 1/1 58 35 1 34 0.97 intronic rs1536957 SMC5 AU NM_015110 exon24 c.91393+51A>G 0.98742 1 0.986767 0.9960 1 Uncertain 9_73002648_C->G 9 73002648 73002648 C G snp 2872.77 1/1 99 108 0 108 1.0 UTR3 rs7020167 KLF9 AU 0.98123 1 0.985005 0.9955 1 Uncertain 9_73150984_C->T 9 73150984 73150984 C T snp 7542.77 1/1 99 250 0 250 1.0 exonic rs6560142 TRPM3 AU nonsynonymous SNV NM_001007471 exon25 c.G5009A p.R1670Q 0.600839 0.7937 0.574812 0.5787 0.8370 0.25 T 1.000 P -0.995 T 0.998 D 0.986 D ID=COSM4164004,COSM4164003,COSM4164002,COSM4164001;OCCURENCE=1(thyroid) Pathogenic 9_73151715_C->T 9 73151715 73151715 C T snp 3818.77 1/1 99 132 0 132 1.0 exonic rs7033976 TRPM3 AU synonymous SNV NM_001007471 exon25 c.G4278A p.L1426L 0.855831 0.9762 0.858142 0.8559 0.9770 1.000 P -1.024 T Likely benign 9_73151970_C->T 9 73151970 73151970 C T snp 2287.77 0/1 99 222 127 95 0.43 exonic rs3739776 TRPM3 AU synonymous SNV NM_001007471 exon25 c.G4023A p.S1341S 0.562101 0.6954 0.559434 0.5637 0.7365 0.999 P -0.990 T Likely benign 9_73164611_G->A 9 73164611 73164611 G A snp 1002.77 0/1 99 111 62 49 0.44 intronic rs1889914 TRPM3 AU NM_206947 exon2 c.13722+21G>A 0.479233 0.7004 0.456020 0.5042 0.7325 Uncertain 9_73164712_T->C 9 73164712 73164712 T C snp 1445.77 1/1 99 43 1 42 0.98 intronic rs1889915 TRPM3 AU NM_206947 exon2 c.13722+122T>C 0.507388 0.7996 Uncertain 9_73168053_C->T 9 73168053 73168053 C T snp 1535.77 0/1 99 169 99 70 0.41 intronic rs17055297 TRPM3 AU NM_206947 exon4 c.17207-22C>T 0.0263578 0.0982 0.002691 0.0104 0.0983 Uncertain 9_73213610_A->G 9 73213610 73213610 A G snp 1200.77 1/1 87 39 0 39 1.0 intronic rs4744605 TRPM3 AU NM_206947 exon6 c.62718+24A>G 0.803315 0.8482 0.783177 0.7882 0.8625 Uncertain 9_73213644_A->C 9 73213644 73213644 A C snp 615.77 1/1 45 20 0 20 1.0 intronic rs4744606 TRPM3 AU NM_206947 exon6 c.62718+58A>C 0.749601 0.8472 Uncertain 9_73234066_G->A 9 73234066 73234066 G A snp 927.77 1/1 69 32 0 32 1.0 intronic rs7849400 TRPM3 AU NM_206947 exon10 c.83143+55G>A 0.96865 1 Uncertain 9_73234970_C->A 9 73234970 73234970 C A snp 2149.77 0/1 99 227 134 93 0.41 intronic rs3812533 TRPM3 AU NM_206947 exon11 c.84123-21C>A 0.126997 0.2401 0.104952 0.1086 0.2515 Uncertain 9_73240312_C->G 9 73240312 73240312 C G snp 869.77 1/1 63 27 0 27 1.0 intronic rs7035025 TRPM3 AU NM_206947 exon12 c.89379+65C>G 0.978035 0.994 Uncertain 9_73240335_-->A 9 73240335 73240335 - A indel 116.73 0/1 99 19 7 12 0.63 intronic rs113701331 TRPM3 AU NM_024971 exon14 c.89529-62insA 0.144968 0.246 Uncertain 9_73240431_T->G 9 73240431 73240431 T G snp 403.77 0/1 99 26 8 18 0.69 intronic rs73451725 TRPM3 AU NM_024971 exon14 c.89565-2T>G 0.139976 0.2302 0.119868 0.1136 0.2394 ID=COSM3763983,COSM3763982;OCCURENCE=1(large_intestine) Uncertain 9_73250399_T->G 9 73250399 73250399 T G snp 44.74 1/1 6 2 0 2 1.0 intronic TRPM3 AU NM_206947 exon13 c.99309+222T>G Uncertain 9_73255432_G->C 9 73255432 73255432 G C snp 1346.77 0/1 99 126 68 58 0.46 intronic rs1538669 TRPM3 AU NM_206947 exon15 c.104607-43G>C 0.595248 0.6845 0.624058 0.7083 0.6910 Uncertain 9_73296400_C->T 9 73296400 73296400 C T snp 1369.77 0/1 99 122 62 60 0.49 intronic rs10123161 TRPM3 AU NM_206947 exon16 c.145553-21C>T 0.339457 0.4504 0.302706 0.3447 0.4663 Uncertain 9_73376414_G->T 9 73376414 73376414 G T snp 1983.77 0/1 99 186 100 86 0.46 intronic rs4745036 TRPM3 AU NM_206947 exon17 c.225648-102G>T 0.180112 0.3819 0.2811 0.5021 Uncertain 9_73391369_T->C 9 73391369 73391369 T C snp 500.77 0/1 99 57 36 21 0.37 intronic rs11142587 TRPM3 AU NM_206947 exon18 c.248152-7651T>C 0.180112 0.3889 0.1648 0.4074 0.65 T 0.0 P -1.024 T Uncertain 9_73391409_-->A 9 73391409 73391409 - A indel 1118.73 1/1 99 40 0 40 1.0 intronic rs34030044 TRPM3 AU NM_206947 exon18 c.248152-7611insA 0.717652 0.8264 0.6862 0.8180 Uncertain 9_73399221_-->A 9 73399221 73399221 - A indel 206.73 0/1 99 17 5 12 0.71 intronic rs149169727 TRPM3 AU NM_206947 exon18 c.248327+26insA 0.0183706 0.0903 0.001358 0.0067 0.1089 Uncertain 9_73408518_T->G 9 73408518 73408518 T G snp 929.77 0/1 99 90 50 40 0.44 intronic rs10868890 TRPM3 AU NM_206947 exon18 c.248327+9323T>G 0.685903 0.7143 0.7568 0.7107 0.08 T 0.0 P -1.017 T Uncertain 9_74300640_A->G 9 74300640 74300640 A G snp 4178.77 1/1 99 145 0 145 1.0 intronic rs2310021 TMEM2 AU NM_001135820 exon2 c.546-18A>G 0.886382 0.998 0.821467 0.8155 0.9983 Uncertain 9_74314210_A->T 9 74314210 74314210 A T snp 56.74 1/1 6 2 0 2 1.0 intronic rs4263836 TMEM2 AU NM_001135820 exon5 c.13008+1090A>T 0.838259 0.9425 Uncertain 9_74314368_-->A 9 74314368 74314368 - A indel 57.52 0/1 7 6 1 5 0.83 intronic rs201021102 TMEM2 AU NM_001135820 exon6 c.15445-1189insA 0.697284 0.8452 0.4335 0.4836 Uncertain 9_74355185_T->G 9 74355185 74355185 T G snp 5715.77 1/1 99 221 0 221 1.0 intronic rs3753006 TMEM2 AU NM_001135820 exon19 c.55036+37T>G 0.217252 0.1577 0.203445 0.1696 0.1639 Uncertain 9_74360096_C->T 9 74360096 74360096 C T snp 4110.77 1/1 99 146 0 146 1.0 exonic rs25689 TMEM2 AU nonsynonymous SNV NM_013390 exon4 c.G872A p.R291H 0.284145 0.1766 0.250961 0.2411 0.1693 0.23 T 1.000 P -1.035 T 0.0 T 0.001 T ID=COSM3763988;OCCURENCE=1(large_intestine) Pathogenic 9_74360209_G->C 9 74360209 74360209 G C snp 3416.77 1/1 99 110 0 110 1.0 exonic rs3739783 TMEM2 AU synonymous SNV NM_013390 exon4 c.C759G p.P253P 0.125599 0.1577 0.103644 0.1411 0.1587 Uncertain 9_74477618_AAGA->- 9 74477618 74477621 AAGA - indel 2274.73 1/1 96 39 0 39 1.0 intronic rs10573097 ABHD17B AU NM_016014 exon1 c.27+95_27+98delAAGA 0.96266 1 Uncertain 9_74485285_C->T 9 74485285 74485285 C T snp 254.8 1/1 21 7 0 7 1.0 intronic rs1524381 ABHD17B AU NM_001025780 exon2 c.3476+107C>T 0.933906 1 Uncertain 9_74526540_T->A 9 74526540 74526540 T A snp 2785.77 1/1 99 88 0 88 1.0 UTR5 rs4744647 C9orf85 AU 0.995208 1 Uncertain 9_74561883_G->A 9 74561883 74561883 G A snp 897.77 1/1 66 31 0 31 1.0 intronic rs10120169 C9orf85 AU NM_182505 exon2 c.35271-38G>A 0.946086 1 0.946854 0.9799 1 Uncertain 9_74622853_G->A 9 74622853 74622853 G A snp 446.77 1/1 33 17 0 17 1.0 intergenic rs10120981 C9orf85 AU 0.352037 0.6667 Uncertain 9_74674427_A->C 9 74674427 74674427 A C snp 282.77 0/1 99 28 16 12 0.43 intronic rs7047632 C9orf57 AU NM_001128618 exon4 c.7089+127A>C 0.351438 0.4653 Uncertain 9_74675604_T->C 9 74675604 74675604 T C snp 387.77 0/1 99 28 12 16 0.57 upstream rs12345527 C9orf57 AU 0.303315 0.4702 Uncertain 9_74825707_T->C 9 74825707 74825707 T C snp 7126.77 1/1 99 244 0 244 1.0 intronic rs11143170 GDA AU NM_001242506 exon5 c.8194+17T>C 0.368011 0.5357 0.295787 0.3003 0.5300 Uncertain 9_74828719_AAAAAAA->- 9 74828719 74828725 AAAAAAA - indel 375.73 0/1 99 11 6 5 0.45 intronic rs200145454 GDA AU NM_001242506 exon6 c.11305-82_11305-76delAAAAAAA 0.363818 0.6667 Uncertain 9_74828973_A->G 9 74828973 74828973 A G snp 1495.77 0/1 99 127 67 60 0.47 intronic rs17494333 GDA AU NM_001242506 exon6 c.11411+66A>G 0.223842 0.128 Uncertain 9_74834384_C->T 9 74834384 74834384 C T snp 434.77 0/1 99 47 26 21 0.45 intronic rs10869148 GDA AU NM_001242506 exon7 c.16898-10C>T 0.335863 0.5377 0.281067 0.3277 0.5253 Uncertain 9_74845989_C->A 9 74845989 74845989 C A snp 909.77 0/1 99 93 55 38 0.41 intronic rs10869150 GDA AU NM_001242506 exon11 c.28533-40C>A 0.308906 0.5397 0.236199 0.3013 0.5277 Uncertain 9_74846104_A->G 9 74846104 74846104 A G snp 988.77 0/1 99 138 87 51 0.37 intronic rs17057536 GDA AU NM_001242506 exon11 c.28601+7A>G 0.309105 0.5397 0.236352 0.3016 0.5285 Uncertain 9_74846187_-->A 9 74846187 74846187 - A indel 350.73 ./1 99 29 0 29 1.0 intronic rs35528537 GDA AU NM_001242506 exon11 c.28601+90insA 0.194489 0.1181 Uncertain 9_74846188_A->- 9 74846188 74846188 A - indel 350.73 ./1 99 29 0 29 1.0 intronic rs34627726 GDA AU NM_001242506 exon11 c.28601+91delA 0.433906 0.5317 Uncertain 9_74863450_G->- 9 74863450 74863450 G - indel 164.73 0/1 99 13 7 6 0.46 UTR3 rs3830994 GDA AU 0.369808 0.5397 Uncertain 9_74975136_T->C 9 74975136 74975136 T C snp 1731.77 1/1 99 65 0 65 1.0 exonic rs2809270 ZFAND5 AU synonymous SNV NM_001102421 exon3 c.A153G p.G51G 0.940895 0.999 0.939778 0.9823 0.9995 ID=COSM4164011,COSM4164012;OCCURENCE=1(thyroid) Uncertain 9_74975492_T->C 9 74975492 74975492 T C snp 216.84 1/1 18 6 0 6 1.0 intronic rs2146184 ZFAND5 AU NM_001102421 exon5 c.4675-51T>C 0.378994 0.4127 0.377747 Uncertain 9_74975711_T->C 9 74975711 74975711 T C snp 4490.77 1/1 99 173 0 173 1.0 intronic rs1853276 ZFAND5 AU NM_001102421 exon5 c.4835+8T>C 0.979633 0.999 0.982390 0.9945 0.9995 Uncertain 9_74979593_G->C 9 74979593 74979593 G C snp 56.74 1/1 6 2 0 2 1.0 intronic rs2224603 ZFAND5 AU NM_001102421 exon6 c.8743-18G>C 0.976637 0.999 Uncertain 9_75242815_T->- 9 75242815 75242815 T - indel 47.73 0/1 85 17 12 5 0.29 intronic rs36038786 TMC1 AR,AD 0.292732 0.38 Uncertain 9_75303653_C->T 9 75303653 75303653 C T snp 4111.77 1/1 99 156 0 156 1.0 exonic rs2589615 TMC1 AR,AD synonymous SNV NM_138691 exon6 c.C45T p.D15D 0.510783 0.4187 0.527372 0.4609 0.4330 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000041144.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 ID=COSM3763989;OCCURENCE=1(large_intestine),1(central_nervous_system) Uncertain 9_75315438_G->A 9 75315438 75315438 G A snp 351.77 0/1 99 22 7 15 0.68 exonic rs1796993 TMC1 AR,AD nonsynonymous SNV NM_138691 exon8 c.G241A p.E81K 0.276358 0.381 0.200492 0.2381 0.3941 0.74 T 1.000 P -0.975 T 0.155 T 0.023 T CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000041139.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 9_75357542_A->G 9 75357542 75357542 A G snp 596.77 0/1 99 37 15 22 0.59 intronic rs7848136 TMC1 AR,AD NM_138691 exon10 c.93877+101A>G 0.276558 0.38 Uncertain 9_75357544_AAACAAAC->- 9 75357544 75357551 AAACAAAC - indel 861.73 0/1 99 37 12 25 0.68 intronic rs146170244 TMC1 AR,AD NM_138691 exon10 c.93877+103_93877+110delAAACAAAC 0.27476 0.38 Uncertain 9_75403484_T->C 9 75403484 75403484 T C snp 790.77 0/1 99 36 10 26 0.72 intronic rs55846842 TMC1 AR,AD NM_138691 exon14 c.139835+85T>C 0.0595048 0.0407 Uncertain 9_75521060_A->G 9 75521060 75521060 A G snp 1109.77 1/1 81 32 0 32 1.0 intronic rs348472 ALDH1A1 AU NM_000689 exon2 c.4825+112A>G 0.860423 0.9891 Uncertain 9_75539077_G->A 9 75539077 75539077 G A snp 407.77 0/1 99 51 33 18 0.35 intronic rs3739962 ALDH1A1 AU NM_000689 exon7 c.22925+29G>A 0.415535 0.4544 0.417769 0.4743 0.4660 Uncertain 9_75540277_T->- 9 75540277 75540277 T - indel 339.73 0/1 99 29 18 11 0.38 intronic rs397843746 ALDH1A1 AU NM_000689 exon8 c.24276-122delT 0.413139 0.4554 Uncertain 9_75541942_G->T 9 75541942 75541942 G T snp 411.77 0/1 99 28 12 16 0.57 intronic rs2303317 ALDH1A1 AU NM_000689 exon9 c.25908-89G>T 0.408946 0.4554 Uncertain 9_75543974_-->AA 9 75543974 75543974 - AA indel 2977.73 1/1 99 68 0 68 1.0 intronic rs34299574 ALDH1A1 AU NM_000689 exon10 c.27814+37insAA 0.889177 0.9861 0.862052 0.9022 0.9897 Uncertain 9_75544038_A->T 9 75544038 75544038 A T snp 234.77 0/1 99 12 4 8 0.67 intronic rs2288087 ALDH1A1 AU NM_000689 exon10 c.27814+101A>T 0.408746 0.4544 Uncertain 9_75545882_G->A 9 75545882 75545882 G A snp 1379.77 0/1 99 135 77 58 0.43 exonic rs13959 ALDH1A1 AU synonymous SNV NM_000689 exon3 c.C225T p.S75S 0.409345 0.4554 0.414885 0.4653 0.4588 Uncertain 9_75554982_G->A 9 75554982 75554982 G A snp 2369.77 1/1 99 79 0 79 1.0 intronic rs348449 ALDH1A1 AU NM_000689 exon12 c.38940-81G>A 0.91853 0.9603 Uncertain 9_75775235_A->G 9 75775235 75775235 A G snp 2268.77 0/1 99 192 81 111 0.58 exonic rs1050305 ANXA1 AU synonymous SNV NM_000700 exon5 c.A327G p.L109L 0.14996 0.1458 0.128556 0.1195 0.1895 Uncertain 9_75778584_G->- 9 75778584 75778584 G - indel 509.73 0/1 99 30 14 16 0.53 intronic rs146119328 ANXA1 AU NM_000700 exon8 c.4997+136delG 0.0880591 0.1399 Uncertain 9_75778585_G->C 9 75778585 75778585 G C snp 377.77 0/1 99 29 14 15 0.52 intronic rs62543867 ANXA1 AU NM_000700 exon8 c.4997+137G>C 0.0876597 0.1399 Uncertain 9_75781246_T->C 9 75781246 75781246 T C snp 131.77 0/1 99 13 7 6 0.46 intronic rs10512015 ANXA1 AU NM_000700 exon10 c.7657+138T>C 0.105831 0.1429 Uncertain 9_75782510_G->A 9 75782510 75782510 G A snp 350.77 0/1 99 50 32 18 0.36 intronic rs1342017 ANXA1 AU NM_000700 exon11 c.9020+39G>A 0.457069 0.1716 0.607044 0.5480 0.1653 Uncertain 9_75783937_A->G 9 75783937 75783937 A G snp 878.77 0/1 99 84 48 36 0.43 intronic rs3739959 ANXA1 AU NM_000700 exon12 c.10496-10A>G 0.471046 0.1716 0.623020 0.5558 0.1659 Uncertain 9_75784264_G->A 9 75784264 75784264 G A snp 99.28 1/1 9 3 0 3 1.0 intronic rs2811226 ANXA1 AU NM_000700 exon12 c.10619+194G>A 0.586661 0.2996 Uncertain 9_75807171_T->A 9 75807171 75807171 T A snp 398.77 0/1 99 166 129 37 0.22 intergenic rs11143532 ANXA1 AU Uncertain 9_77230423_A->T 9 77230423 77230423 A T snp 873.77 0/1 99 68 31 37 0.54 intronic rs3904059 RORB AU NM_006914 exon2 c.132305-14774A>T 0.46226 0.747 Uncertain 9_77230477_A->G 9 77230477 77230477 A G snp 2918.77 1/1 99 112 0 112 1.0 intronic rs3904058 RORB AU NM_006914 exon2 c.132305-14720A>G 0.792332 0.9405 0.8414 0.9227 Uncertain 9_77245162_A->T 9 77245162 77245162 A T snp 3860.77 1/1 99 143 0 143 1.0 intronic rs2146777 RORB AU NM_006914 exon2 c.132305-35A>T 0.950679 1 0.941796 0.9831 0.9997 Uncertain 9_77280346_A->T 9 77280346 77280346 A T snp 232.77 0/1 99 16 6 10 0.63 intronic rs3750421 RORB AU NM_006914 exon7 c.167511-57A>T 0.152556 0.3036 Uncertain 9_77286876_A->C 9 77286876 77286876 A C snp 663.77 0/1 99 65 38 27 0.42 intronic rs3818559 RORB AU NM_006914 exon9 c.173925+59A>C 0.48722 0.6696 Uncertain 9_77352545_A->C 9 77352545 77352545 A C snp 80.77 0/1 99 6 3 3 0.5 intronic rs535143 TRPM6 AR NM_001177310 exon4 c.13794-777A>C 0.162141 0.1558 Uncertain 9_77353300_T->C 9 77353300 77353300 T C snp 215.77 0/1 99 23 15 8 0.35 intronic rs506973 TRPM6 AR NM_001177310 exon4 c.13794-22T>C 0.131789 0.1558 0.093957 0.1116 0.1646 Uncertain 9_77354230_G->A 9 77354230 77354230 G A snp 2233.77 0/1 99 192 94 98 0.51 intronic rs4468002 TRPM6 AR NM_001177310 exon5 c.14754-52G>A 0.0485224 0.1399 0.002409 ID=COSN168574;OCCURENCE=1(large_intestine) Uncertain 9_77376633_A->G 9 77376633 77376633 A G snp 3217.75 0/1 99 250 124 126 0.5 exonic rs2274925 TRPM6 AR synonymous SNV NM_017662 exon27 c.T4764C p.N1588N 0.16873 0.1597 0.153083 0.1016 0.1561 Uncertain 9_77376647_T->C 9 77376647 77376647 T C snp 7050.77 1/1 99 250 0 250 1.0 exonic rs2274924 TRPM6 AR nonsynonymous SNV NM_017662 exon27 c.A4750G p.K1584E 0.294928 0.3155 0.235430 0.2112 0.3190 0.03 T 0.295 P -0.976 T 0.787 T 0.526 P Pathogenic 9_77377410_C->T 9 77377410 77377410 C T snp 2516.77 0/1 99 152 57 95 0.63 exonic rs3750425 TRPM6 AR nonsynonymous SNV NM_017662 exon26 c.G4177A p.V1393I 0.176318 0.1548 0.143780 0.1245 0.1624 0.71 T 0.0 P -1.082 T 0.302 T 0.08 T Pathogenic 9_77378082_G->A 9 77378082 77378082 G A snp 553.77 0/1 99 42 20 22 0.52 intronic rs45616231 TRPM6 AR NM_001177310 exon14 c.38522+32G>A 0.0856629 0.1567 0.064039 0.0782 0.1549 Uncertain 9_77386857_-->AA 9 77386857 77386857 - AA indel 2226.73 1/1 99 47 0 47 1.0 intronic rs34783728 TRPM6 AR NM_001177310 exon15 c.47223+106insAA 0.307109 0.3274 Uncertain 9_77386938_T->C 9 77386938 77386938 T C snp 50.74 1/1 6 2 0 2 1.0 intronic rs2027026 TRPM6 AR NM_001177310 exon15 c.47223+187T>C 0.555112 0.3373 Uncertain 9_77391060_T->C 9 77391060 77391060 T C snp 631.77 0/1 99 63 37 26 0.41 intronic rs2274923 TRPM6 AR NM_001177310 exon16 c.51464+68T>C 0.131589 0.1617 0.1327 0.1815 Uncertain 9_77397519_T->C 9 77397519 77397519 T C snp 3201.82 1/1 99 104 0 104 1.0 intronic rs12339024 TRPM6 AR NM_001177310 exon18 c.58066-75T>C 0.368411 0.2817 Uncertain 9_77400891_G->A 9 77400891 77400891 G A snp 2039.77 0/1 99 164 79 85 0.52 exonic TRPM6 AR synonymous SNV NM_017662 exon21 c.C2818T p.L940L Uncertain 9_77407736_A->G 9 77407736 77407736 A G snp 591.77 0/1 99 50 27 23 0.46 intronic rs7858755 TRPM6 AR NM_001177310 exon21 c.68158+50A>G 0.239816 0.1131 0.284100 0.2585 0.1300 Uncertain 9_77415284_A->C 9 77415284 77415284 A C snp 3403.77 1/1 99 129 0 129 1.0 exonic rs7859201 TRPM6 AR synonymous SNV NM_017662 exon17 c.T2124G p.L708L 0.460863 0.3482 0.475780 0.4086 0.3719 Uncertain 9_77416972_C->T 9 77416972 77416972 C T snp 2477.77 0/1 99 237 129 108 0.46 exonic rs11144089 TRPM6 AR synonymous SNV NM_017662 exon16 c.G1851A p.L617L 0.0892572 0.1558 0.074427 0.0933 0.1697 ID=COSM3763990,COSM3763991,COSM3763992;OCCURENCE=1(large_intestine) Uncertain 9_77425638_A->C 9 77425638 77425638 A C snp 2146.77 0/1 99 150 66 84 0.56 intronic rs17060550 TRPM6 AR NM_001177310 exon27 c.86202-92A>C 0.241813 0.124 Uncertain 9_77427173_T->C 9 77427173 77427173 T C snp 1682.77 0/1 99 154 80 74 0.48 intronic rs4300062 TRPM6 AR NM_001177310 exon28 c.87686-41T>C 0.251198 0.124 0.286252 0.2441 0.1468 Uncertain 9_77436641_G->A 9 77436641 77436641 G A snp 2057.77 0/1 99 230 136 94 0.41 exonic rs7018994 TRPM6 AR synonymous SNV NM_017662 exon8 c.C954T p.G318G 0.358826 0.5536 0.273335 0.3722 0.5180 Uncertain 9_77442616_C->T 9 77442616 77442616 C T snp 2658.77 1/1 99 96 0 96 1.0 intronic rs7045949 TRPM6 AR NM_001177310 exon33 c.103165-77C>T 0.675919 0.8085 0.6215 0.8190 Uncertain 9_77454800_A->G 9 77454800 77454800 A G snp 81.77 0/1 30 4 1 3 0.75 intronic TRPM6 AR NM_001177310 exon35 c.115411-139A>G Uncertain 9_77454804_A->G 9 77454804 77454804 A G snp 86.77 0/1 30 4 1 3 0.75 intronic TRPM6 AR NM_001177310 exon35 c.115411-135A>G Uncertain 9_77454808_A->G 9 77454808 77454808 A G snp 83.77 0/1 30 4 1 3 0.75 intronic rs201247606 TRPM6 AR NM_001177310 exon35 c.115411-131A>G Uncertain 9_77454821_G->A 9 77454821 77454821 G A snp 171.8 0/1 21 7 1 6 0.86 intronic rs12338822 TRPM6 AR NM_001177310 exon35 c.115411-118G>A Uncertain 9_77473706_C->T 9 77473706 77473706 C T snp 743.77 0/1 99 50 18 32 0.64 intronic TRPM6 AR NM_001177310 exon38 c.134136+42C>T 9.73e-06 0.0001 Uncertain 9_77478816_A->T 9 77478816 77478816 A T snp 99.28 1/1 9 3 0 3 1.0 intronic rs60062173 TRPM6 AR NM_001177310 exon38 c.134136+5152A>T 0.398163 0.5417 Uncertain 9_77502160_G->A 9 77502160 77502160 G A snp 1135.77 0/1 99 120 70 50 0.42 intronic rs1333342 TRPM6 AR NM_001177311 exon39 c.162618+14G>A 0.397963 0.5446 0.4445 0.6 0.37 T 1.000 P -0.906 T 0.255 T 0.064 T Uncertain 9_77502322_C->T 9 77502322 77502322 C T snp 107.77 0/1 99 12 7 5 0.42 intronic rs1333343 TRPM6 AR NM_001177311 exon39 c.162735+59C>T 0.691693 0.5456 Uncertain 9_77599683_G->A 9 77599683 77599683 G A snp 310.77 0/1 99 26 12 14 0.54 ncRNA_intronic rs10869465 C9orf41-AS1 AU 0.264177 0.2103 Uncertain 9_77599756_T->C 9 77599756 77599756 T C snp 889.77 0/1 99 80 43 37 0.46 ncRNA_intronic rs57537935 C9orf41-AS1 AU 0.11861 0.2649 Uncertain 9_77631104_C->T 9 77631104 77631104 C T snp 158.78 0/1 24 7 1 6 0.86 intronic rs34980997 C9orf41 AU NM_152420 exon6 c.32501-79C>T 0.11861 0.2659 Uncertain 9_77668969_G->C 9 77668969 77668969 G C snp 608.77 0/1 99 68 40 28 0.41 intergenic rs773145 C9orf41 AU 0.516174 0.5744 0.478375 0.4521 0.5966 Uncertain 9_77669152_G->C 9 77669152 77669152 G C snp 156.77 0/1 99 16 7 9 0.56 intergenic rs13294415 C9orf41 AU 0.215256 0.4038 Uncertain 9_77676305_T->C 9 77676305 77676305 T C snp 470.77 0/1 84 20 5 15 0.75 UTR3 rs1045882 NMRK1 AU 0.121805 0.1429 Uncertain 9_77681179_C->T 9 77681179 77681179 C T snp 6430.77 1/1 99 241 0 241 1.0 intronic rs7852863 NMRK1 AU NM_017881 exon2 c.5209-493C>T 0.762181 0.7927 0.770317 0.7785 0.8019 Uncertain 9_77684690_A->C 9 77684690 77684690 A C snp 1242.77 0/1 99 114 56 58 0.51 exonic rs3752955 NMRK1 AU synonymous SNV NM_017881 exon6 c.T357G p.T119T 0.620208 0.6776 0.599646 0.5644 0.6887 Uncertain 9_77692556_T->- 9 77692556 77692556 T - indel 112.73 0/1 99 20 8 12 0.6 intronic rs397760968 NMRK1 AU NM_017881 exon7 c.16033+60delT 0.723842 0.7718 Uncertain 9_77697929_C->G 9 77697929 77697929 C G snp 707.77 0/1 99 70 38 32 0.46 intronic rs2273767 NMRK1 AU NM_017881 exon8 c.21539-73C>G 0.254593 0.4573 0.277048 Uncertain 9_77703431_C->T 9 77703431 77703431 C T snp 267.77 0/1 99 17 7 10 0.59 UTR5 rs73544571 OSTF1 AU 0.255791 0.4514 Uncertain 9_77703448_G->A 9 77703448 77703448 G A snp 279.77 0/1 99 21 7 14 0.67 UTR5 OSTF1 AU Uncertain 9_77745424_T->C 9 77745424 77745424 T C snp 1854.77 1/1 99 56 1 55 0.98 intronic rs2295861 OSTF1 AU NM_012383 exon4 c.41885-69T>C 0.730431 0.6825 Uncertain 9_77746804_T->C 9 77746804 77746804 T C snp 1420.77 0/1 99 118 58 60 0.51 intronic rs2281662 OSTF1 AU NM_012383 exon5 c.43131+65T>C 0.291334 0.13 0.336618 Uncertain 9_77747977_G->A 9 77747977 77747977 G A snp 56.74 1/1 6 2 0 2 1.0 intronic rs7040169 OSTF1 AU NM_012383 exon6 c.44601-232G>A 0.647963 0.6815 Uncertain 9_77748151_G->A 9 77748151 77748151 G A snp 436.77 0/1 99 63 44 19 0.3 intronic rs7040349 OSTF1 AU NM_012383 exon6 c.44601-58G>A 0.20627 0.1329 Uncertain 9_77752510_C->T 9 77752510 77752510 C T snp 2145.77 0/1 99 200 102 98 0.49 exonic rs2273769 OSTF1 AU synonymous SNV NM_012383 exon8 c.C465T p.I155I 0.132388 0.13 0.123943 0.1678 0.1287 ID=COSM3763993;OCCURENCE=1(large_intestine) Uncertain 9_77752675_A->G 9 77752675 77752675 A G snp 1535.77 1/1 99 47 0 47 1.0 intronic rs2025159 OSTF1 AU NM_012383 exon8 c.48924+143A>G 0.740415 0.6786 Uncertain 9_78711053_T->G 9 78711053 78711053 T G snp 291.77 0/1 99 22 12 10 0.45 intronic rs1416547 PCSK5 AU NM_001190482 exon8 c.204921+35T>G 0.271765 0.1687 0.310472 0.3316 0.2110 Uncertain 9_78771753_C->T 9 78771753 78771753 C T snp 174.9 1/1 15 5 0 5 1.0 intronic rs17785192 PCSK5 AU NM_001190482 exon11 c.265863-207C>T 0.154153 0.3075 Uncertain 9_78784493_A->T 9 78784493 78784493 A T snp 71.77 0/1 99 9 6 3 0.33 intronic rs11144772 PCSK5 AU NM_001190482 exon13 c.278522-126A>T 0.0800719 0.1994 Uncertain 9_78790149_AATGA->- 9 78790149 78790153 AATGA - indel 5168.73 1/1 99 91 0 91 1.0 intronic rs774970963 PCSK5 AU NM_001190482 exon14 c.283948+104_283948+108delAATGA 0.1232 0.2527 Uncertain 9_78790226_T->C 9 78790226 78790226 T C snp 288.03 0/1 12 10 1 9 0.9 intronic rs45587131 PCSK5 AU NM_001190482 exon14 c.283948+181T>C 0.2708 0.0570 Uncertain 9_78790236_C->T 9 78790236 78790236 C T snp 81.77 0/1 30 4 1 3 0.75 intronic rs72738791 PCSK5 AU NM_001190482 exon14 c.283948+191C>T 0.0810703 0.0248 0.0852 0.0259 Uncertain 9_78799566_C->T 9 78799566 78799566 C T snp 2037.77 1/1 99 72 0 72 1.0 intronic rs1537183 PCSK5 AU NM_001190482 exon17 c.293491-22C>T 0.98762 1 0.974773 0.9769 0.9995 Uncertain 9_78803466_T->C 9 78803466 78803466 T C snp 1269.77 1/1 90 46 0 46 1.0 intronic rs7046850 PCSK5 AU NM_001190482 exon18 c.297396-27T>C 0.941094 1 0.933877 0.9422 0.9997 Uncertain 9_78803931_A->T 9 78803931 78803931 A T snp 718.77 0/1 99 55 24 31 0.56 intronic rs2270571 PCSK5 AU NM_001190482 exon19 c.297912-78A>T 0.330072 0.1825 Uncertain 9_78808329_-->AAAA 9 78808329 78808329 - AAAA indel 364.76 1/1 22 14 0 14 1.0 intronic rs3077117 PCSK5 AU NM_006200 exon21 c.302055+177insAAAA 0.96226 0.999 Uncertain 9_78809822_A->G 9 78809822 78809822 A G snp 880.77 0/1 99 66 33 33 0.5 intronic rs7019429 PCSK5 AU NM_006200 exon21 c.304708-983A>G 0.625998 0.7292 Uncertain 9_78819998_T->C 9 78819998 78819998 T C snp 7232.77 1/1 99 250 0 250 1.0 intronic rs10869732 PCSK5 AU NM_006200 exon21 c.304708+9193T>C 0.672524 0.756 Uncertain 9_78820011_G->A 9 78820011 78820011 G A snp 7638.77 1/1 99 250 0 250 1.0 intronic rs7851394 PCSK5 AU NM_006200 exon21 c.304708+9206G>A 0.965455 0.999 Uncertain 9_78820265_G->C 9 78820265 78820265 G C snp 1339.77 1/1 99 35 0 35 1.0 intronic rs10869733 PCSK5 AU NM_006200 exon21 c.304708+9460G>C 0.371805 0.6637 Uncertain 9_78820270_T->C 9 78820270 78820270 T C snp 1116.77 1/1 84 31 0 31 1.0 intronic rs10781345 PCSK5 AU NM_006200 exon21 c.304708+9465T>C 0.453674 0.6667 Uncertain 9_78842380_A->G 9 78842380 78842380 A G snp 1735.77 0/1 99 111 42 69 0.62 intronic rs1390141 PCSK5 AU NM_001190482 exon21 c.336321-38A>G 0.388578 0.244 0.438394 0.4834 0.3007 Uncertain 9_78848542_C->G 9 78848542 78848542 C G snp 1359.77 1/1 99 43 0 43 1.0 intronic rs903545 PCSK5 AU NM_001190482 exon22 c.342415+30C>G 0.952476 0.999 0.948204 0.9612 0.9998 Uncertain 9_78848554_G->C 9 78848554 78848554 G C snp 553.77 0/1 99 32 13 19 0.59 intronic rs7854396 PCSK5 AU NM_001190482 exon22 c.342415+42G>C 0.488419 0.748 0.395710 0.4339 0.7540 Uncertain 9_78917238_G->A 9 78917238 78917238 G A snp 404.77 0/1 99 32 17 15 0.47 intronic rs17179700 PCSK5 AU NM_001190482 exon27 c.405684+5457G>A 0.0235623 0.0456 Uncertain 9_78917340_G->A 9 78917340 78917340 G A snp 99.28 1/1 9 3 0 3 1.0 intronic rs2842474 PCSK5 AU NM_001190482 exon27 c.405684+5559G>A 0.542532 0.8681 Uncertain 9_78925814_C->A 9 78925814 78925814 C A snp 377.77 1/1 30 12 0 12 1.0 intronic rs2257775 PCSK5 AU NM_001190482 exon29 c.419670+47C>A 0.938498 0.8532 0.958672 0.9408 0.8275 Uncertain 9_78965993_G->A 9 78965993 78965993 G A snp 307.78 1/1 24 9 0 9 1.0 intronic rs2257220 PCSK5 AU NM_001190482 exon35 c.459747+149G>A 0.823882 0.9048 Uncertain 9_78968751_C->T 9 78968751 78968751 C T snp 49.77 0/1 33 5 2 3 0.6 intronic rs7036539 PCSK5 AU NM_001190482 exon36 c.462851-197C>T 0.388379 0.4296 Uncertain 9_79003324_G->A 9 79003324 79003324 G A snp 395.77 1/1 30 13 0 13 1.0 intronic rs2501926 RFK AU NM_018339 exon2 c.1155-145G>A 0.919728 0.999 Uncertain 9_79003413_G->T 9 79003413 79003413 G T snp 99.28 1/1 9 3 0 3 1.0 intronic rs2501925 RFK AU NM_018339 exon2 c.1155-56G>T 0.534145 0.629 Uncertain 9_79003440_G->A 9 79003440 79003440 G A snp 258.8 1/1 21 7 0 7 1.0 intronic rs2501924 RFK AU NM_018339 exon2 c.1155-29G>A 0.919728 0.999 0.906567 0.9376 0.9995 Uncertain 9_79009106_A->C 9 79009106 79009106 A C snp 3124.77 1/1 99 121 3 118 0.98 UTR5 rs2490582 RFK AU 0.999401 1 0.999057 0.9985 1 0.51 T 0.000 P -0.980 T Uncertain 9_79118661_A->G 9 79118661 79118661 A G snp 1155.77 1/1 84 37 0 37 1.0 UTR3 rs1057419 GCNT1 AU 0.686302 0.8433 Uncertain 9_79240050_T->C 9 79240050 79240050 T C snp 1184.77 1/1 87 37 0 37 1.0 intronic rs700809 PRUNE2 AU NM_015225 exon3 c.9921+644T>C 0.901558 0.9216 Uncertain 9_79251229_T->C 9 79251229 79251229 T C snp 56.74 1/1 6 2 0 2 1.0 intronic rs561450 PRUNE2 AU NM_015225 exon5 c.21901-157T>C 0.812899 0.7669 Uncertain 9_79259592_C->T 9 79259592 79259592 C T snp 1834.77 0/1 99 145 74 71 0.49 intronic rs511040 PRUNE2 AU NM_015225 exon8 c.30169-62C>T 0.620807 0.622 Uncertain 9_79259850_A->G 9 79259850 79259850 A G snp 1191.77 0/1 99 117 63 54 0.46 intronic rs512951 PRUNE2 AU NM_015225 exon8 c.30340+25A>G 0.648163 0.622 0.623398 0.6372 0.6512 Uncertain 9_79270603_A->C 9 79270603 79270603 A C snp 537.77 1/1 42 14 0 14 1.0 intronic rs3739520 PRUNE2 AU NM_015225 exon10 c.40933+185A>C 0.390974 0.4087 Uncertain 9_79302605_A->G 9 79302605 79302605 A G snp 1878.77 0/1 99 176 91 85 0.48 intronic PRUNE2 AU NM_015225 exon11 c.88767-15647A>G Uncertain 9_79306790_G->T 9 79306790 79306790 G T snp 139.03 1/1 12 4 0 4 1.0 intronic rs10869796 PRUNE2 AU NM_015225 exon11 c.88767-11462G>T 0.241613 0.499 Uncertain 9_79307176_G->C 9 79307176 79307176 G C snp 1437.77 1/1 99 53 0 53 1.0 intronic rs500952 PRUNE2 AU NM_015225 exon11 c.88767-11076G>C 0.819688 0.9167 Uncertain 9_79318119_G->T 9 79318119 79318119 G T snp 136.03 1/1 12 4 0 4 1.0 intronic rs10521474 PRUNE2 AU NM_015225 exon11 c.88767-133G>T 0.0882588 0.1696 Uncertain 9_79318376_GTGACAGCCTGCAAC->- 9 79318376 79318390 GTGACAGCCTGCAAC - indel 23686.7 1/1 99 169 0 169 1.0 exonic rs11267615 PRUNE2 AU nonframeshift deletion NM_015225 exon9 c.8139_8153del p.2713_2718del 0.784345 0.9127 0.712193 0.7782 0.9253 ID=COSM1319577;OCCURENCE=1(haematopoietic_and_lymphoid_tissue) Uncertain 9_79318471_C->T 9 79318471 79318471 C T snp 4051.77 1/1 99 131 0 131 1.0 exonic rs560094 PRUNE2 AU synonymous SNV NM_015225 exon9 c.G8058A p.L2686L 0.784345 0.9127 0.745922 0.7948 0.9402 0.000 P -1.041 T Likely benign 9_79318677_T->C 9 79318677 79318677 T C snp 5956.77 1/1 99 216 0 216 1.0 exonic rs561970 PRUNE2 AU nonsynonymous SNV NM_015225 exon9 c.A7852G p.S2618G 0.784545 0.9127 0.746699 0.7954 0.9407 0.5 T 0.0 P -0.974 T 0.0 T 0.0 T ID=COSM4164026;OCCURENCE=1(thyroid) Pathogenic 9_79318998_A->G 9 79318998 79318998 A G snp 1890.77 1/1 99 69 0 69 1.0 exonic rs620552 PRUNE2 AU nonsynonymous SNV NM_015225 exon9 c.T7531C p.S2511P 0.784345 0.9127 0.745631 0.7954 0.9403 0.12 T 0.0 P -0.930 T 0.0 T 0.0 T Pathogenic 9_79319050_A->C 9 79319050 79319050 A C snp 1240.77 1/1 90 39 0 39 1.0 intronic rs620476 PRUNE2 AU NM_015225 exon11 c.89530+35A>C 0.784345 0.9127 0.743348 0.7957 0.9405 Uncertain 9_79319560_A->C 9 79319560 79319560 A C snp 412.77 1/1 33 11 0 11 1.0 intronic rs618145 PRUNE2 AU NM_015225 exon12 c.90191-116A>C 0.785343 0.9127 Uncertain 9_79319874_C->A 9 79319874 79319874 C A snp 2899.77 1/1 99 101 2 99 0.98 exonic rs3739523 PRUNE2 AU nonsynonymous SNV NM_015225 exon8 c.G7316T p.S2439I 0.0876597 0.1687 0.044757 0.0473 0.1962 0.02 T 0.000 P -1.028 T 0.855 T 0.212 P Pathogenic 9_79320095_T->G 9 79320095 79320095 T G snp 6624.77 1/1 99 249 3 246 0.99 exonic rs3739524 PRUNE2 AU nonsynonymous SNV NM_015225 exon8 c.A7095C p.L2365F 0.282548 0.4673 0.194466 0.2123 0.4936 0.14 T 0.000 P -0.974 T 0.006 T 0.003 T Pathogenic 9_79320640_C->T 9 79320640 79320640 C T snp 5550.77 1/1 99 187 0 187 1.0 exonic rs512110 PRUNE2 AU nonsynonymous SNV NM_015225 exon8 c.G6550A p.A2184T 0.796925 0.9117 0.758738 0.7991 0.9404 0.8 T 0.0 P -1.019 T 0.0 T 0.001 T Pathogenic 9_79320847_G->C 9 79320847 79320847 G C snp 3248.77 1/1 99 111 0 111 1.0 exonic rs2077181 PRUNE2 AU nonsynonymous SNV NM_015225 exon8 c.C6343G p.Q2115E 0.23762 0.4653 0.146602 0.1846 0.4929 0.19 T 1.000 P -0.940 T 0.055 T 0.012 T Pathogenic 9_79321276_T->C 9 79321276 79321276 T C snp 4680.77 1/1 99 160 0 160 1.0 exonic rs517634 PRUNE2 AU nonsynonymous SNV NM_015225 exon8 c.A5914G p.T1972A 0.784545 0.9117 0.748641 0.7964 0.9408 0.33 T 0.000 P -1.044 T 0.0 T 0.0 T Pathogenic 9_79322674_A->G 9 79322674 79322674 A G snp 5990.77 1/1 99 199 0 199 1.0 exonic rs680775 PRUNE2 AU nonsynonymous SNV NM_015225 exon8 c.T4516C p.C1506R 0.786342 0.9117 0.748932 0.7969 0.9404 0.12 T 0.0 P -1.039 T 0.0 T 0.0 T Pathogenic 9_79322720_A->G 9 79322720 79322720 A G snp 5187.77 1/1 99 180 0 180 1.0 exonic rs680729 PRUNE2 AU synonymous SNV NM_015225 exon8 c.T4470C p.D1490D 0.777157 0.9117 0.742233 0.7950 0.9404 0.0 P -1.099 T Likely benign 9_79324439_A->G 9 79324439 79324439 A G snp 7661.77 1/1 99 250 0 250 1.0 exonic rs12238013 PRUNE2 AU synonymous SNV NM_015225 exon8 c.T2751C p.D917D 0.23742 0.4643 0.146602 0.1845 0.4908 0.012 P -0.910 T Likely benign 9_79324955_C->T 9 79324955 79324955 C T snp 5342.77 1/1 99 191 1 190 0.99 exonic rs11145017 PRUNE2 AU nonsynonymous SNV NM_015225 exon8 c.G2235A p.M745I 0.23742 0.4643 0.146505 0.1851 0.4920 0.42 T 0.999 P -0.899 T 0.0 T 0.0 T Pathogenic 9_79325297_T->G 9 79325297 79325297 T G snp 5185.77 1/1 99 177 0 177 1.0 exonic rs11145018 PRUNE2 AU synonymous SNV NM_015225 exon8 c.A1893C p.T631T 0.238019 0.4643 0.146602 0.1845 0.4926 Uncertain 9_79325615_A->G 9 79325615 79325615 A G snp 3707.77 1/1 99 123 0 123 1.0 exonic rs611461 PRUNE2 AU synonymous SNV NM_015225 exon8 c.T1575C p.S525S 0.785343 0.9157 0.748544 0.7967 0.9392 Uncertain 9_79325759_C->T 9 79325759 79325759 C T snp 3788.77 1/1 99 131 0 131 1.0 exonic rs11145019 PRUNE2 AU synonymous SNV NM_015225 exon8 c.G1431A p.V477V 0.23762 0.4653 0.146505 0.1863 0.4901 Uncertain 9_79328461_G->A 9 79328461 79328461 G A snp 1091.77 1/1 84 32 0 32 1.0 intronic rs9785303 PRUNE2 AU NM_015225 exon13 c.98993-17G>A 0.236621 0.4643 0.146311 0.2018 0.4928 Uncertain 9_79471995_T->C 9 79471995 79471995 T C snp 2140.77 0/1 99 219 115 104 0.47 intronic rs12238848 PRUNE2 AU NM_015225 exon18 c.239639+2871T>C 0.457668 0.6141 0.4706 0.6493 Uncertain 9_79814799_A->G 9 79814799 79814799 A G snp 59.74 1/1 6 5 0 5 1.0 intronic rs12552898 VPS13A AR NM_001018037 exon2 c.22240-61A>G 0.546326 0.5813 0.510045 Uncertain 9_79820141_-->T 9 79820141 79820141 - T indel 280.77 1/1 21 7 0 7 1.0 intronic rs75101662 VPS13A AR NM_001018037 exon4 c.27608-87insT 0.61262 0.6627 Uncertain 9_79827791_G->A 9 79827791 79827791 G A snp 254.77 0/1 99 30 18 12 0.4 intronic rs10869912 VPS13A AR NM_001018037 exon8 c.35264-93G>A 0.240815 0.3839 Uncertain 9_79827964_G->C 9 79827964 79827964 G C snp 1040.77 0/1 99 85 39 46 0.54 intronic rs17723908 VPS13A AR NM_001018037 exon8 c.35324+20G>C 0.0704872 0.1071 0.079732 0.0871 0.1173 Uncertain 9_79829084_C->T 9 79829084 79829084 C T snp 44.77 0/1 33 3 1 2 0.67 intronic rs41289959 VPS13A AR NM_001018037 exon10 c.36624-160C>T 0.0327476 0.1062 Uncertain 9_79835101_T->C 9 79835101 79835101 T C snp 295.77 0/1 99 19 10 9 0.47 intronic rs3802497 VPS13A AR NM_001018037 exon12 c.42572-91T>C 0.0714856 0.1071 Uncertain 9_79835102_T->A 9 79835102 79835102 T A snp 286.77 0/1 99 19 10 9 0.47 intronic rs3802498 VPS13A AR NM_001018037 exon12 c.42572-90T>A 0.0714856 0.1071 Uncertain 9_79867082_A->C 9 79867082 79867082 A C snp 950.77 0/1 99 93 58 35 0.38 intronic rs17337881 VPS13A AR NM_001018037 exon22 c.74530-68A>C 0.0738818 0.123 Uncertain 9_79888146_G->A 9 79888146 79888146 G A snp 809.77 0/1 99 61 25 36 0.59 intronic rs17063468 VPS13A AR NM_001018037 exon24 c.95575-49G>A 0.0726837 0.122 0.077546 0.0914 0.1433 Uncertain 9_79895012_T->G 9 79895012 79895012 T G snp 114.77 0/1 66 9 2 7 0.78 intronic rs17423029 VPS13A AR NM_001018037 exon27 c.102454-62T>G 0.0754792 0.123 Uncertain 9_79896655_-->TA 9 79896655 79896655 - TA indel 217.73 0/1 99 14 7 7 0.5 intronic rs746901925 VPS13A AR NM_001018037 exon28 c.104162-127insTA Uncertain 9_79910414_G->T 9 79910414 79910414 G T snp 170.77 0/1 99 15 8 7 0.47 intronic rs1317304 VPS13A AR NM_001018037 exon32 c.117837-43G>T 0.236621 0.1567 0.256084 0.2898 0.1777 Uncertain 9_79922839_A->G 9 79922839 79922839 A G snp 306.77 0/1 99 23 13 10 0.43 intronic rs2275549 VPS13A AR NM_001018037 exon34 c.130240-21A>G 0.560703 0.5734 0.518763 0.5879 0.6085 Uncertain 9_79935953_A->G 9 79935953 79935953 A G snp 182.9 1/1 15 5 0 5 1.0 intronic rs1890899 VPS13A AR NM_001018037 exon42 c.143464-131A>G 0.535343 0.5764 Uncertain 9_79946961_C->T 9 79946961 79946961 C T snp 482.77 0/1 99 45 22 23 0.51 exonic rs17424026 VPS13A AR synonymous SNV NM_033305 exon46 c.C6027T p.Y2009Y 0.0688898 0.1091 0.078668 0.0872 0.1168 1.0 P -1.036 T ID=COSM4138994,COSM4138995,COSM4138996;OCCURENCE=1(kidney) Likely benign 9_79955528_A->G 9 79955528 79955528 A G snp 234.77 0/1 51 10 2 8 0.8 intronic rs17424248 VPS13A AR NM_001018037 exon49 c.162846+62A>G 0.0714856 0.1091 Uncertain 9_79974399_G->A 9 79974399 79974399 G A snp 470.77 1/1 36 15 0 15 1.0 intronic rs7043232 VPS13A AR NM_001018037 exon57 c.181698+81G>A 0.710064 0.6776 Uncertain 9_79986120_G->C 9 79986120 79986120 G C snp 629.77 0/1 99 54 25 29 0.54 intronic rs76031760 VPS13A AR NM_001018037 exon66 c.193445+55G>C 0.063099 0.1984 Uncertain 9_80018376_G->C 9 80018376 80018376 G C snp 364.77 0/1 99 21 6 15 0.71 intronic rs12352196 VPS13A AR NM_001018037 exon68 c.225617+139G>C 0.263578 0.128 Uncertain 9_80022415_A->T 9 80022415 80022415 A T snp 543.77 1/1 39 23 0 23 1.0 intronic rs2025846 VPS13A AR NM_001018037 exon70 c.229828-33A>T 0.584665 0.6796 0.522924 0.5431 0.6864 Uncertain 9_80030829_G->T 9 80030829 80030829 G T snp 839.77 0/1 99 92 53 39 0.42 intronic rs2274486 VPS13A AR NM_001018037 exon71 c.238251-42G>T 0.0449281 0.1954 0.000461 0.0165 0.1907 Uncertain 9_80038803_G->A 9 80038803 80038803 G A snp 229.77 0/1 99 14 6 8 0.57 UTR3 rs76329164 GNA14 AU 0.0507188 0.0685 Uncertain 9_80040463_A->G 9 80040463 80040463 A G snp 1309.77 0/1 99 126 69 57 0.45 intronic rs79295433 GNA14 AU NM_004297 exon2 c.1583-14A>G 0.0567093 0.0714 0.058588 0.0653 0.0747 Uncertain 9_80043993_A->G 9 80043993 80043993 A G snp 2573.77 0/1 99 228 116 112 0.49 intronic rs2296780 GNA14 AU NM_004297 exon3 c.5058+41A>G 0.00439297 0.0218 0.0013 0.0185 Uncertain 9_80044056_G->A 9 80044056 80044056 G A snp 1647.77 0/1 99 131 63 68 0.52 intronic rs2296781 GNA14 AU NM_004297 exon3 c.5058+104G>A 0.395966 0.2927 Uncertain 9_80049298_C->T 9 80049298 80049298 C T snp 1553.77 0/1 99 114 49 65 0.57 exonic rs1801258 GNA14 AU synonymous SNV NM_004297 exon3 c.G450A p.S150S 0.358027 0.3512 0.351376 0.3105 0.3437 Uncertain 9_80851648_G->A 9 80851648 80851648 G A snp 284.77 0/1 99 25 15 10 0.4 intronic rs117647885 CEP78 AU NM_032171 exon1 c.253+129G>A 0.00339457 0.0139 Uncertain 9_80868354_G->T 9 80868354 80868354 G T snp 380.77 0/1 99 44 27 17 0.39 intronic rs3824547 CEP78 AU NM_032171 exon10 c.16927+161G>T 0.580671 0.375 Uncertain 9_80912115_G->C 9 80912115 80912115 G C snp 2041.77 1/1 99 70 0 70 1.0 UTR5 rs2277148 PSAT1 AR 0.760383 0.6627 0.801143 0.7901 0.6863 Uncertain 9_80915392_G->A 9 80915392 80915392 G A snp 186.77 0/1 99 20 9 11 0.55 intronic rs3824360 PSAT1 AR NM_058179 exon2 c.3391-125G>A 0.133986 0.252 Uncertain 9_80915403_A->T 9 80915403 80915403 A T snp 532.77 1/1 39 21 0 21 1.0 intronic rs10121107 PSAT1 AR NM_058179 exon2 c.3391-114A>T 0.704473 0.6726 Uncertain 9_80917096_C->T 9 80917096 80917096 C T snp 180.9 1/1 15 5 0 5 1.0 intronic rs3739473 PSAT1 AR NM_058179 exon3 c.4813+157C>T 0.676318 0.6657 Uncertain 9_80921446_G->T 9 80921446 80921446 G T snp 1093.77 1/1 78 39 0 39 1.0 intronic rs944513 PSAT1 AR NM_058179 exon5 c.9276+44G>T 0.757188 0.6806 0.770567 0.7828 0.6823 Uncertain 9_80923250_C->T 9 80923250 80923250 C T snp 207.84 1/1 18 8 0 8 1.0 intronic rs3739476 PSAT1 AR NM_058179 exon6 c.11203-79C>T 0.241214 0.4177 Uncertain 9_80923609_C->T 9 80923609 80923609 C T snp 772.77 1/1 57 21 0 21 1.0 intronic rs2039323 PSAT1 AR NM_058179 exon6 c.11373+110C>T 0.353834 0.4276 Uncertain 9_80923610_A->G 9 80923610 80923610 A G snp 751.77 1/1 57 21 0 21 1.0 intronic rs2039324 PSAT1 AR NM_058179 exon6 c.11373+111A>G 0.355431 0.4276 Uncertain 9_80932574_T->A 9 80932574 80932574 T A snp 1719.77 1/1 99 65 0 65 1.0 intronic rs3780194 PSAT1 AR NM_058179 exon7 c.20465-17T>A 0.710264 0.6329 0.747347 0.7213 0.6044 Uncertain 9_82006446_G->A 9 82006446 82006446 G A snp 1710.77 1/1 99 53 0 53 1.0 intergenic rs11138190 LOC101927450 AU 0.167332 0.255 0.164386 0.1969 0.2613 Uncertain 9_82187750_A->G 9 82187750 82187750 A G snp 7117.77 1/1 99 245 0 245 1.0 splicing rs1934610 TLE4 AU NM_001282749 exon1 c.44+1A>G 0.98762 0.998 0.980111 0.9803 1 ID=COSM4164048,COSM4164047;OCCURENCE=2(thyroid) Pathogenic 9_82189914_T->C 9 82189914 82189914 T C snp 3484.77 1/1 99 128 0 128 1.0 intronic rs2791566 TLE4 AU NM_001282749 exon3 c.2146+63T>C 1 1 Uncertain 9_82267732_C->G 9 82267732 82267732 C G snp 3246.77 1/1 99 116 0 116 1.0 intronic rs2297499 TLE4 AU NM_001282749 exon6 c.80004+23C>G 0.549521 0.7401 0.516352 0.6198 0.7358 Uncertain 9_82286286_C->G 9 82286286 82286286 C G snp 4946.77 1/1 99 180 1 179 0.99 intronic rs1475674 TLE4 AU NM_001282749 exon7 c.81285+17296C>G 0.542931 0.7153 0.6467 0.7216 Uncertain 9_82286352_G->A 9 82286352 82286352 G A snp 1890.77 1/1 99 60 0 60 1.0 intronic rs2297498 TLE4 AU NM_001282749 exon7 c.81285+17362G>A 0.542931 0.7153 Uncertain 9_82308390_G->A 9 82308390 82308390 G A snp 2657.77 1/1 99 92 0 92 1.0 intronic rs11138336 TLE4 AU NM_001282749 exon8 c.131992-11307G>A 0.567692 0.7411 Uncertain 9_82308670_A->G 9 82308670 82308670 A G snp 1788.77 1/1 99 52 0 52 1.0 intronic rs7025437 TLE4 AU NM_001282749 exon8 c.131992-11027A>G 0.886781 0.872 Uncertain 9_82319568_A->G 9 82319568 82319568 A G snp 509.77 0/1 99 31 13 18 0.58 intronic TLE4 AU NM_001282749 exon8 c.131992-129A>G Uncertain 9_82320887_A->T 9 82320887 82320887 A T snp 5250.77 1/1 99 192 2 190 0.99 intronic rs4877147 TLE4 AU NM_001282749 exon9 c.133152+30A>T 0.871605 0.8264 0.891792 0.8796 0.8063 Uncertain 9_82335293_GTGT->- 9 82335293 82335296 GTGT - indel 262.8 1/1 18 14 0 14 1.0 intronic rs71364488 TLE4 AU NM_001282749 exon15 c.147503+85_147503+88delGTGT Uncertain 9_82335298_T->G 9 82335298 82335298 T G snp 87.77 0/1 99 14 8 6 0.43 intronic rs398046385 TLE4 AU NM_001282749 exon15 c.147503+90T>G Uncertain 9_82335300_T->G 9 82335300 82335300 T G snp 109.77 0/1 99 14 8 6 0.43 intronic TLE4 AU NM_001282749 exon15 c.147503+92T>G Uncertain 9_82336973_A->G 9 82336973 82336973 A G snp 254.8 1/1 21 7 0 7 1.0 intronic rs6559494 TLE4 AU NM_001282749 exon16 c.149098+170A>G 0.89377 0.8681 Uncertain 9_84202837_-->TGTCATCCCGCC 9 84202837 84202837 - TGTCATCCCGCC indel 18363.7 ./1 99 147 0 147 1.0 intronic rs143574563 TLE1 AU NM_001303103 exon4 c.3631+94insTGTCATCCCGCC Uncertain 9_84202837_-->TGTGTCATCCCGCC 9 84202837 84202837 - TGTGTCATCCCGCC indel 18363.7 ./1 99 147 0 147 1.0 intronic rs143574563 TLE1 AU NM_001303103 exon4 c.3631+94insTGTGTCATCCCGCC 0.228834 0.2827 Uncertain 9_84205836_C->T 9 84205836 84205836 C T snp 1490.77 0/1 99 119 56 63 0.53 exonic rs143199419 TLE1 AU synonymous SNV NM_001303103 exon16 c.G1743A p.T581T 0.000154 8.241e-06 0 ID=COSM1242925;OCCURENCE=1(oesophagus) Uncertain 9_84207898_C->G 9 84207898 84207898 C G snp 1693.77 0/1 99 136 58 78 0.57 intronic rs7023704 TLE1 AU NM_001303103 exon6 c.8827-41C>G 0.222045 0.2966 0.221282 0.2993 0.2844 Uncertain 9_84214819_T->A 9 84214819 84214819 T A snp 231.77 0/1 99 15 7 8 0.53 intronic rs9886672 TLE1 AU NM_001303103 exon6 c.9077+6630T>A 0.38139 0.6389 Uncertain 9_84227051_C->T 9 84227051 84227051 C T snp 225.77 0/1 99 11 4 7 0.64 intronic rs62576161 TLE1 AU NM_001303103 exon8 c.27762+177C>T 0.207668 0.255 Uncertain 9_84235798_G->A 9 84235798 84235798 G A snp 2071.77 0/1 99 173 89 84 0.49 intronic rs11139343 TLE1 AU NM_001303103 exon12 c.36360+326G>A 0.147764 0.2659 0.149983 Uncertain 9_84248204_GTGTGTGTGTGT->- 9 84248204 84248215 GTGTGTGTGTGT - indel 2925.73 1/1 66 22 0 22 1.0 intronic rs113273526 TLE1 AU NM_001303103 exon13 c.49150-58_49150-47delGTGTGTGTGTGT Uncertain 9_84267147_T->C 9 84267147 84267147 T C snp 2804.77 1/1 99 108 0 108 1.0 exonic rs2228173 TLE1 AU synonymous SNV NM_001303103 exon6 c.A354G p.E118E 0.907947 0.8889 0.907889 0.9083 0.8779 Uncertain 9_84268878_A->G 9 84268878 84268878 A G snp 714.77 0/1 99 62 31 31 0.5 intronic rs2796447 TLE1 AU NM_001303103 exon16 c.69776-10A>G 0.299521 0.4315 0.182224 0.2513 0.4385 Uncertain 9_84275014_C->A 9 84275014 84275014 C A snp 815.77 1/1 60 24 0 24 1.0 intronic rs2627002 TLE1 AU NM_001303103 exon16 c.69839+6063C>A 0.904353 0.8889 Uncertain 9_84275095_C->T 9 84275095 84275095 C T snp 2554.77 1/1 99 96 0 96 1.0 intronic rs2796450 TLE1 AU NM_001303103 exon16 c.69839+6144C>T 0.900559 0.8899 Uncertain 9_84303026_G->A 9 84303026 84303026 G A snp 483.77 0/1 99 53 28 25 0.47 intronic rs2279353 TLE1 AU NM_001303103 exon20 c.104019-105G>A 0.0884585 0.0685 Uncertain 9_84532344_T->A 9 84532344 84532344 T A snp 2391.77 0/1 99 212 107 105 0.5 ncRNA_exonic SPATA31D5P AU Uncertain 9_84607758_T->A 9 84607758 84607758 T A snp 5240.77 1/1 99 187 0 187 1.0 exonic rs10867826 SPATA31D1 AU synonymous SNV NM_001001670 exon4 c.T2373A p.T791T 0.624201 0.7024 0.574092 0.4642 0.7125 Uncertain 9_85597721_AGAG->- 9 85597721 85597724 AGAG - indel 1778.73 0/1 99 138 43 95 0.69 intronic rs573413242 RASEF AU NM_152573 exon1 c.106+24_106+27delAGAG 0.4054 0.4929 Uncertain 9_85597726_G->A 9 85597726 85597726 G A snp 425.77 0/1 99 118 96 22 0.19 intronic rs527298340 RASEF AU NM_152573 exon1 c.106+29G>A 0.00978435 0.0188 0.0005 0.0038 Uncertain 9_85597730_G->A 9 85597730 85597730 G A snp 788.77 0/1 99 107 74 33 0.31 intronic rs202217869 RASEF AU NM_152573 exon1 c.106+33G>A Uncertain 9_85608152_A->G 9 85608152 85608152 A G snp 86.77 0/1 28 4 1 3 0.75 intronic rs2279814 RASEF AU NM_152573 exon3 c.10349+212A>G 0.528554 0.7282 Uncertain 9_85619330_T->- 9 85619330 85619330 T - indel 241.73 0/1 99 27 18 9 0.33 intronic rs550029746 RASEF AU NM_152573 exon9 c.21821-82delT 0.013778 Uncertain 9_85619352_TTTAC->- 9 85619352 85619356 TTTAC - indel 969.73 0/1 99 35 21 14 0.4 intronic rs141850659 RASEF AU NM_152573 exon9 c.21821-60_21821-56delTTTAC 0.552117 0.7292 Uncertain 9_85627408_G->A 9 85627408 85627408 G A snp 785.77 0/1 99 80 46 34 0.42 exonic rs4146960 RASEF AU nonsynonymous SNV NM_152573 exon5 c.C784T p.R262C 0.551917 0.7292 0.508849 0.5369 0.7386 0.18 T 1.000 P -0.993 T 0.33 T 0.006 T Pathogenic 9_85627540_A->C 9 85627540 85627540 A C snp 476.77 0/1 99 40 22 18 0.45 intronic rs10121395 RASEF AU NM_152573 exon13 c.29835+114A>C 0.552316 0.7292 Uncertain 9_85627554_C->T 9 85627554 85627554 C T snp 333.77 0/1 99 27 15 12 0.44 intronic rs4146961 RASEF AU NM_152573 exon13 c.29835+128C>T 0.624401 0.7867 Uncertain 9_85630621_C->T 9 85630621 85630621 C T snp 1239.77 0/1 99 104 50 54 0.52 intronic rs1976455 RASEF AU NM_152573 exon14 c.33128-98C>T 0.53754 0.7302 Uncertain 9_85677255_G->- 9 85677255 85677255 G - indel 2222.73 1/1 99 76 0 76 1.0 intronic rs10573978 RASEF AU NM_152573 exon17 c.79760-96delG 0.297324 0.2857 Uncertain 9_85862793_T->- 9 85862793 85862793 T - indel 1644.73 1/1 99 37 0 37 1.0 UTR3 rs11292389 FRMD3 AU 0.213059 0.5962 0.088215 0.1541 0.5997 Uncertain 9_85862819_G->A 9 85862819 85862819 G A snp 514.77 0/1 99 46 24 22 0.48 UTR3 rs78846594 FRMD3 AU 0.0752796 0.1825 0.060911 0.0787 0.1606 Uncertain 9_85905666_A->G 9 85905666 85905666 A G snp 724.77 0/1 99 53 23 30 0.57 intronic rs942283 FRMD3 AU NM_174938 exon2 c.42810+24A>G 0.574681 0.6944 0.539461 0.6339 0.7058 Uncertain 9_85905737_C->G 9 85905737 85905737 C G snp 203.77 0/1 99 14 6 8 0.57 intronic rs942282 FRMD3 AU NM_174938 exon2 c.42810+95C>G 0.577077 0.6944 Uncertain 9_85905786_G->A 9 85905786 85905786 G A snp 182.9 1/1 15 6 0 6 1.0 intronic rs942281 FRMD3 AU NM_174938 exon2 c.42810+144G>A 0.894569 1 Uncertain 9_85912456_A->G 9 85912456 85912456 A G snp 181.77 0/1 99 11 5 6 0.55 intronic rs10780587 FRMD3 AU NM_174938 exon3 c.50830-1206A>G 0.482827 0.6488 Uncertain 9_85913481_C->T 9 85913481 85913481 C T snp 199.77 0/1 99 14 5 9 0.64 intronic rs12683854 FRMD3 AU NM_174938 exon3 c.50830-181C>T 0.107428 0.1766 Uncertain 9_85913590_A->G 9 85913590 85913590 A G snp 940.77 0/1 99 75 37 38 0.51 intronic rs11140011 FRMD3 AU NM_174938 exon3 c.50830-72A>G 0.482628 0.6488 Uncertain 9_85914243_A->C 9 85914243 85914243 A C snp 607.77 0/1 99 38 16 22 0.58 intronic rs1359168 FRMD3 AU NM_174938 exon4 c.51269+142A>C 0.481829 0.6458 Uncertain 9_85925309_T->C 9 85925309 85925309 T C snp 2588.77 1/1 99 89 0 89 1.0 intronic rs11140018 FRMD3 AU NM_174938 exon6 c.62567-90T>C 0.247604 0.3859 Uncertain 9_85958298_T->G 9 85958298 85958298 T G snp 4333.77 1/1 99 156 0 156 1.0 intronic rs2277177 FRMD3 AU NM_174938 exon10 c.95370+96T>G 0.106629 0.3631 Uncertain 9_85964450_A->G 9 85964450 85964450 A G snp 608.77 0/1 99 37 14 23 0.62 intronic rs4877253 FRMD3 AU NM_174938 exon11 c.101761-143A>G 0.244808 0.0704 Uncertain 9_86004993_C->T 9 86004993 86004993 C T snp 1320.77 0/1 99 127 72 55 0.43 intronic rs7853850 FRMD3 AU NM_174938 exon13 c.141791+370C>T 0.363419 0.2103 Uncertain 9_86153159_T->G 9 86153159 86153159 T G snp 3340.77 1/1 99 118 0 118 1.0 UTR5 rs4529536 FRMD3 AU 0.526757 0.6736 0.422742 0.4897 0.7025 Uncertain 9_86238086_T->C 9 86238086 86238086 T C snp 1355.77 1/1 99 46 0 46 1.0 UTR5 rs2811903 IDNK AU 0.857628 0.8879 0.8016 0.8889 Uncertain 9_86241489_A->G 9 86241489 86241489 A G snp 379.77 1/1 30 11 0 11 1.0 intronic rs2780977 IDNK AU NM_001001551 exon2 c.5009-1606A>G 0.857628 0.8879 0.8357 0.8561 Uncertain 9_86243933_G->T 9 86243933 86243933 G T snp 3216.73 1/1 99 109 0 109 1.0 intronic rs2811905 IDNK AU NM_001256915 exon3 c.30+59G>T 0.857428 0.8879 0.799168 Uncertain 9_86278817_C->A 9 86278817 86278817 C A snp 2776.77 1/1 99 108 0 108 1.0 exonic rs7866234 UBQLN1 AU synonymous SNV NM_013438 exon10 c.G1590T p.L530L 0.384784 0.8075 0.224973 0.3211 0.8152 1.0 P -1.002 T Likely benign 9_86279015_C->T 9 86279015 86279015 C T snp 663.77 1/1 48 27 0 27 1.0 intronic rs2781003 UBQLN1 AU NM_013438 exon2 c.2257+57C>T 0.76897 0.8819 Uncertain 9_86279814_G->A 9 86279814 86279814 G A snp 56.74 1/1 6 2 0 2 1.0 intronic rs10868037 UBQLN1 AU NM_013438 exon3 c.3243-130G>A 0.379992 0.8065 Uncertain 9_86284178_C->A 9 86284178 86284178 C A snp 3785.77 1/1 99 149 0 149 1.0 exonic rs1044175 UBQLN1 AU synonymous SNV NM_013438 exon7 c.G1170T p.L390L 0.76897 0.8819 0.696678 0.6887 0.8866 1.000 P Uncertain 9_86327898_C->T 9 86327898 86327898 C T snp 4135.77 1/1 99 153 0 153 1.0 intergenic rs10119344 UBQLN1 AU 0.764577 0.881 0.7234 0.8924 Uncertain 9_86354511_G->C 9 86354511 86354511 G C snp 294.77 0/1 99 28 14 14 0.5 UTR3 rs4750 GKAP1 AU 0.533746 0.5992 Uncertain 9_86354810_T->C 9 86354810 86354810 T C snp 46.78 0/1 27 3 1 2 0.67 intronic rs2287373 GKAP1 AU NM_001135953 exon1 c.48+151T>C 0.550719 0.5992 Uncertain 9_86368105_A->G 9 86368105 86368105 A G snp 112.77 0/1 99 11 6 5 0.45 intronic rs10868053 GKAP1 AU NM_001135953 exon5 c.13561-67A>G 0.550919 0.6002 Uncertain 9_86395396_A->C 9 86395396 86395396 A C snp 52.77 0/1 68 8 4 4 0.5 intronic GKAP1 AU NM_001135953 exon6 c.40708+77A>C Uncertain 9_86399815_C->T 9 86399815 86399815 C T snp 305.77 0/1 99 40 23 17 0.42 intronic rs7021357 GKAP1 AU NM_001135953 exon7 c.45142+62C>T 0.533746 0.5992 Uncertain 9_86504055_T->C 9 86504055 86504055 T C snp 1343.77 0/1 99 138 75 63 0.46 exonic rs191426363 KIF27 AU synonymous SNV NM_001271927 exon7 c.A1923G p.Q641Q 0.000599042 0.003 0.0004 0.0061 Uncertain 9_86617265_A->G 9 86617265 86617265 A G snp 1982.77 1/1 99 64 0 64 1.0 exonic rs1982151 RMI1 AU nonsynonymous SNV NM_024945 exon3 c.A1364G p.N455S 0.671126 0.7063 0.685688 0.7152 0.7268 0.0 P -0.986 T 0.0 T 0.0 T ID=CM074997;DIS=Leukaemia, myelodysplastic syndrome, melanoma, association with;TAG=DP;PUB=17900800 DP Pathogenic 9_86895919_T->C 9 86895919 86895919 T C snp 286.77 0/1 99 24 13 11 0.46 intronic rs117481772 SLC28A3 AU NM_001199633 exon4 c.2665+122T>C 0.0856629 0.256 Uncertain 9_86909435_T->C 9 86909435 86909435 T C snp 43.77 0/1 72 4 2 2 0.5 intronic rs885003 SLC28A3 AU NM_001199633 exon10 c.16058+245T>C 0.28155 0.376 Uncertain 9_86912815_A->G 9 86912815 86912815 A G snp 855.77 0/1 99 100 58 42 0.42 splicing rs3812510 SLC28A3 AU NM_001199633 exon12 c.19688-5A>G 0.0900559 0.2688 0.008150 0.0529 0.2542 Pathogenic 9_86914372_A->G 9 86914372 86914372 A G snp 197.78 0/1 24 9 3 6 0.67 intronic rs17087049 SLC28A3 AU NM_001199633 exon13 c.21363-123A>G 0.181909 0.2688 Uncertain 9_86920118_A->- 9 86920118 86920118 A - indel 262.73 1/1 22 15 1 14 0.93 intronic rs36082472 SLC28A3 AU NM_001199633 exon15 c.27036-50delA 0.481629 0.495 Uncertain 9_86920236_T->C 9 86920236 86920236 T C snp 1095.77 0/1 99 126 75 51 0.4 exonic rs7867504 SLC28A3 AU synonymous SNV NM_022127 exon5 c.A267G p.T89T 0.563698 0.6002 0.446332 0.4036 0.6078 ID=COSM3764036;OCCURENCE=1(large_intestine) Uncertain 9_86924784_T->- 9 86924784 86924784 T - indel 284.73 0/1 99 33 14 19 0.58 intronic rs71869137 SLC28A3 AU NM_001199633 exon16 c.31497+155delT 0.123403 0.3631 Uncertain 9_86928403_G->A 9 86928403 86928403 G A snp 347.77 0/1 99 32 14 18 0.56 intronic rs10780662 SLC28A3 AU NM_001199633 exon17 c.35237+34G>A 0.119609 0.3631 0.009918 0.0696 0.3577 Uncertain 9_86928497_C->T 9 86928497 86928497 C T snp 80.77 0/1 30 4 1 3 0.75 intronic rs7863627 SLC28A3 AU NM_001199633 exon17 c.35237+128C>T 0.566094 0.625 Uncertain 9_86955682_C->T 9 86955682 86955682 C T snp 139.03 1/1 12 4 0 4 1.0 intronic rs7035753 SLC28A3 AU NM_001199633 exon18 c.62562-12C>T 0.419928 0.375 Uncertain 9_87285595_C->G 9 87285595 87285595 C G snp 152.77 0/1 99 8 3 5 0.63 UTR5 rs1187325 NTRK2 AU 0.495807 0.5764 Uncertain 9_87285915_C->T 9 87285915 87285915 C T snp 1363.77 0/1 99 116 61 55 0.47 intronic rs1187326 NTRK2 AU NM_001018066 exon2 c.212+40C>T 0.709065 0.7609 0.716977 0.7555 0.7567 Uncertain 9_87285992_G->A 9 87285992 87285992 G A snp 286.77 0/1 99 18 8 10 0.56 intronic rs1211166 NTRK2 AU NM_001018066 exon2 c.212+117G>A 0.753195 0.7877 Uncertain 9_87356918_G->C 9 87356918 87356918 G C snp 118.77 0/1 99 11 5 6 0.55 intronic rs187692869 NTRK2 AU NM_001018066 exon10 c.71179+76G>C Uncertain 9_87360107_CACCT->- 9 87360107 87360111 CACCT - indel 2680.73 1/1 99 41 0 41 1.0 intronic rs144586764 NTRK2 AU NM_001018066 exon11 c.74325+119_74325+123delCACCT 0.812899 0.875 Uncertain 9_87360153_G->A 9 87360153 87360153 G A snp 162.77 0/1 99 14 8 6 0.43 intronic rs7048278 NTRK2 AU NM_001018066 exon11 c.74325+165G>A 0.599441 0.6756 Uncertain 9_87563252_T->C 9 87563252 87563252 T C snp 899.77 0/1 99 59 30 29 0.49 intronic rs1078947 NTRK2 AU NM_006180 exon18 c.277713-124T>C 0.791534 0.7272 Uncertain 9_88204708_C->A 9 88204708 88204708 C A snp 74.77 0/1 99 9 6 3 0.33 intronic rs11141026 AGTPBP1 AU NM_001286717 exon7 c.42573+112C>A 0.257588 0.5268 Uncertain 9_88269947_C->T 9 88269947 88269947 C T snp 471.77 1/1 36 12 0 12 1.0 intronic rs675837 AGTPBP1 AU NM_001286717 exon16 c.108034-110C>T 0.647963 0.8512 Uncertain 9_88272611_G->A 9 88272611 88272611 G A snp 836.77 0/1 99 47 17 30 0.64 intronic rs4531129 AGTPBP1 AU NM_001286717 exon17 c.110535+53G>A 0.336861 0.5367 Uncertain 9_88275838_T->A 9 88275838 88275838 T A snp 491.77 0/1 99 45 21 24 0.53 intronic rs606606 AGTPBP1 AU NM_001286717 exon18 c.113827-12T>A 0.178914 0.2758 0.127781 0.2448 0.3952 Uncertain 9_88356668_A->C 9 88356668 88356668 A C snp 268.8 1/1 21 10 0 10 1.0 intronic rs10114338 AGTPBP1 AU NM_001286717 exon25 c.194666-21A>C 0.466254 0.7609 0.3522 0.7083 Uncertain 9_88356743_A->G 9 88356743 88356743 A G snp 313.78 1/1 24 14 0 14 1.0 exonic rs10114347 AGTPBP1 AU synonymous SNV NM_001286715 exon1 c.T135C p.A45A 0.430312 0.7599 0.3344 0.7128 Uncertain 9_88371264_G->C 9 88371264 88371264 G C snp 159.77 0/1 99 14 8 6 0.43 intergenic rs11141089 AGTPBP1 AU 0.207468 0.5675 Uncertain 9_88464394_A->G 9 88464394 88464394 A G snp 1323.77 0/1 99 209 130 79 0.38 intergenic rs200430907 LOC389765 AU Uncertain 9_88628206_A->G 9 88628206 88628206 A G snp 374.77 0/1 99 16 5 11 0.69 intronic rs2149546 NAA35 AU NM_024635 exon16 c.70985+147A>G 0.113219 0.3413 Uncertain 9_88631382_-->GTT 9 88631382 88631382 - GTT indel 687.73 0/1 99 30 16 14 0.47 intronic rs10651022 NAA35 AU NM_024635 exon18 c.74379-71insGTT 0.370008 0.3641 Uncertain 9_88635939_G->T 9 88635939 88635939 G T snp 332.77 0/1 99 26 13 13 0.5 intronic rs6559892 NAA35 AU NM_024635 exon22 c.78810+55G>T 0.372404 0.3681 0.305349 Uncertain 9_88636752_TT->- 9 88636752 88636753 TT - indel 824.73 0/1 99 23 5 18 0.78 intronic rs80162799 NAA35 AU NM_024635 exon23 c.79741-63_79741-62delTT 0.117812 0.3403 0.035126 Uncertain 9_88636887_G->A 9 88636887 88636887 G A snp 1155.77 0/1 99 104 49 55 0.53 UTR3 rs7450 NAA35 AU 0.372404 0.369 0.315777 0.2436 0.4168 Uncertain 9_88647965_T->C 9 88647965 88647965 T C snp 31.77 0/1 31 3 1 2 0.67 intronic rs17051559 GOLM1 AU NM_016548 exon2 c.5465-231T>C 0.0942492 0.3423 Uncertain 9_88651370_T->C 9 88651370 88651370 T C snp 679.77 0/1 99 71 40 31 0.44 exonic rs2297002 GOLM1 AU nonsynonymous SNV NM_016548 exon7 c.A650G p.H217R 0.229233 0.3492 0.137244 0.0889 0.3924 0.35 T 0.0 P -0.975 T 0.0 T 0.0 T Pathogenic 9_88667582_T->G 9 88667582 88667582 T G snp 2257.77 1/1 99 80 0 80 1.0 intronic rs10780743 GOLM1 AU NM_016548 exon7 c.24775+76T>G 0.986821 1 Uncertain 9_88692336_C->T 9 88692336 88692336 C T snp 2569.77 0/1 99 191 84 107 0.56 exonic rs3750390 GOLM1 AU synonymous SNV NM_016548 exon3 c.G300A p.Q100Q 0.126797 0.4831 0.010303 0.0636 0.4710 ID=COSM3764037;OCCURENCE=1(large_intestine) Uncertain 9_88694179_G->T 9 88694179 88694179 G T snp 447.77 0/1 99 77 53 24 0.31 exonic rs3750389 GOLM1 AU synonymous SNV NM_016548 exon2 c.C57A p.A19A 0.297923 0.5615 0.180944 0.1747 0.5460 ID=COSM3764038;OCCURENCE=1(large_intestine) Uncertain 9_88903367_T->A 9 88903367 88903367 T A snp 133.03 1/1 12 4 0 4 1.0 UTR3 rs4440696 ZCCHC6 AU 0.863019 0.994 Uncertain 9_88919648_A->T 9 88919648 88919648 A T snp 56.74 1/1 6 2 0 2 1.0 intronic rs4877315 ZCCHC6 AU NM_001185059 exon4 c.16179-122A>T 0.982628 1 Uncertain 9_88924057_A->C 9 88924057 88924057 A C snp 1270.77 1/1 93 47 2 45 0.96 intronic rs4520250 ZCCHC6 AU NM_001185059 exon7 c.20535-69A>C 0.866014 0.994 Uncertain 9_88924985_-->T 9 88924985 88924985 - T indel 212.73 0/1 73 30 6 24 0.8 intronic rs397694900 ZCCHC6 AU NM_001185059 exon9 c.21341+53insT 0.579872 0.6161 Uncertain 9_88925535_TG->- 9 88925535 88925536 TG - indel 1836.73 1/1 99 37 0 37 1.0 intronic rs397790081 ZCCHC6 AU NM_001185059 exon10 c.22029-85_22029-84delTG 0.865815 0.994 Uncertain 9_89763574_A->C 9 89763574 89763574 A C snp 369.77 1/1 30 11 0 11 1.0 UTR5 rs461126 C9orf170 AU 0.894768 0.9653 Uncertain 9_89763851_C->G 9 89763851 89763851 C G snp 2816.77 1/1 99 108 0 108 1.0 intronic rs458983 C9orf170 AU NM_001001709 exon1 c.168+38C>G 0.890375 0.9653 0.833641 0.8461 0.9504 Uncertain 9_90062823_A->G 9 90062823 90062823 A G snp 3508.77 1/1 99 125 0 125 1.0 intergenic rs12682834 C9orf170 AU 0.636781 0.7242 0.576735 0.6466 0.6831 Uncertain 9_90256827_A->G 9 90256827 90256827 A G snp 560.77 1/1 42 15 0 15 1.0 intronic rs3118846 DAPK1 AU NM_001288730 exon10 c.142891-56A>G 0.489617 0.5367 Uncertain 9_90258248_C->T 9 90258248 90258248 C T snp 639.77 1/1 48 20 0 20 1.0 intronic rs3793657 DAPK1 AU NM_001288730 exon11 c.144298-42C>T 0.553315 0.6151 0.469763 0.4602 0.7149 Uncertain 9_90258413_TT->- 9 90258413 90258414 TT - indel 6192.73 1/1 99 124 0 124 1.0 intronic rs10561388 DAPK1 AU NM_001288730 exon11 c.144391+30_144391+31delTT 0.4933 0.7417 Uncertain 9_90258415_T->C 9 90258415 90258415 T C snp 2767.77 1/1 99 120 0 120 1.0 intronic rs62576207 DAPK1 AU NM_001288730 exon11 c.144391+32T>C 0.4934 0.7420 Uncertain 9_90258537_G->A 9 90258537 90258537 G A snp 48.74 1/1 6 3 0 3 1.0 intronic rs3793656 DAPK1 AU NM_001288730 exon11 c.144391+154G>A 0.328874 0.5079 Uncertain 9_90264758_C->T 9 90264758 90264758 C T snp 3313.77 1/1 99 113 0 113 1.0 intronic rs2274605 DAPK1 AU NM_001288730 exon16 c.150843-77C>T 0.354233 0.5784 Uncertain 9_90265015_C->T 9 90265015 90265015 C T snp 6063.77 1/1 99 214 0 214 1.0 exonic rs3818584 DAPK1 AU synonymous SNV NM_004938 exon16 c.C1608T p.D536D 0.354034 0.5784 0.306684 0.3895 0.6017 Uncertain 9_90273181_C->T 9 90273181 90273181 C T snp 141.84 0/1 18 6 1 5 0.83 intronic rs36215048 DAPK1 AU NM_001288730 exon18 c.159050+139C>T 0.0864617 0.0496 Uncertain 9_90313717_G->T 9 90313717 90313717 G T snp 1148.77 0/1 99 109 55 54 0.5 intronic rs3128495 DAPK1 AU NM_001288730 exon23 c.199717+8G>T 0.348842 0.4167 0.344541 0.4502 0.3990 Uncertain 9_90315286_G->A 9 90315286 90315286 G A snp 169.77 0/1 99 12 6 6 0.5 intronic rs7044579 DAPK1 AU NM_001288730 exon24 c.201160+134G>A 0.308107 0.4395 Uncertain 9_90316605_T->C 9 90316605 90316605 T C snp 370.77 0/1 99 24 12 12 0.5 intronic rs12056997 DAPK1 AU NM_001288730 exon25 c.203951-1338T>C 0.216254 0.4405 Uncertain 9_90316636_TT->- 9 90316636 90316637 TT - indel 427.73 0/1 99 40 15 25 0.63 intronic rs148030008 DAPK1 AU NM_001288730 exon25 c.203951-1307_203951-1306delTT 0.688698 0.9603 Uncertain 9_90316710_T->C 9 90316710 90316710 T C snp 4328.77 1/1 99 153 0 153 1.0 intronic rs3118858 DAPK1 AU NM_001288730 exon25 c.203951-1233T>C 0.817093 0.9812 0.7694 0.9809 Uncertain 9_90320954_G->A 9 90320954 90320954 G A snp 966.77 0/1 99 67 28 39 0.58 intronic rs1927973 DAPK1 AU NM_001288730 exon26 c.207054-92G>A 0.617612 0.5446 Uncertain 9_90321583_C->T 9 90321583 90321583 C T snp 2239.77 0/1 99 150 68 82 0.55 exonic rs3118863 DAPK1 AU synonymous SNV NM_004938 exon26 c.C3597T p.R1199R 0.356629 0.4107 0.361906 0.4399 0.3964 ID=COSM3764042,COSM3764044,COSM3764043;OCCURENCE=1(large_intestine),1(thyroid) Uncertain 9_90322023_G->A 9 90322023 90322023 G A snp 7434.77 1/1 99 249 0 249 1.0 exonic rs1056719 DAPK1 AU nonsynonymous SNV NM_004938 exon26 c.G4037A p.S1346N 0.65595 0.8323 0.585791 0.6672 0.8101 0.6 T 0.0 P -0.943 T 0.0 T 0.0 T ID=COSM4164075,COSM4164074,COSM4164073;OCCURENCE=2(thyroid) ID=CM071685;DIS=Inactivation of ERK-induced apoptosis, association;TAG=DP;PUB=17244621 DP Pathogenic 9_90342675_C->T 9 90342675 90342675 C T snp 2019.77 0/1 99 168 80 88 0.52 intronic rs2274611 CTSL AU NM_001912 exon2 c.126+31C>T 0.449081 0.3363 0.481855 0.4490 0.3467 Uncertain 9_90343780_A->C 9 90343780 90343780 A C snp 4156.77 1/1 99 140 0 140 1.0 intronic rs2378757 CTSL AU NM_001912 exon5 c.1206+56A>C 0.795128 0.9831 0.7196 0.9795 0.0 P ID=COSM3849035;OCCURENCE=1(breast) Uncertain 9_90387628_G->A 9 90387628 90387628 G A snp 553.77 1/1 42 16 0 16 1.0 upstream rs7024674 CTSL3P AU 0.741414 0.8313 Uncertain 9_90387805_A->C 9 90387805 90387805 A C snp 4182.77 1/1 99 156 0 156 1.0 upstream rs9410955 CTSL3P AU 0.741214 0.8304 0.700907 0.7115 0.8162 Uncertain 9_90388270_A->T 9 90388270 90388270 A T snp 176.9 1/1 15 5 0 5 1.0 ncRNA_intronic rs7853247 CTSL3P AU 0.864617 0.9782 Uncertain 9_90388370_G->A 9 90388370 90388370 G A snp 1211.77 0/1 99 100 48 52 0.52 ncRNA_exonic rs7853691 CTSL3P AU 0.374401 0.3264 0.438490 0.4268 0.3139 Uncertain 9_90388539_T->A 9 90388539 90388539 T A snp 3548.77 1/1 99 132 0 132 1.0 ncRNA_exonic rs10735592 CTSL3P AU 0.735024 0.8304 0.695294 0.7098 0.8169 Uncertain 9_90396135_G->A 9 90396135 90396135 G A snp 582.77 0/1 99 42 19 23 0.55 ncRNA_exonic rs9410963 CTSL3P AU 0.212061 0.249 0.196294 0.2079 0.2260 Uncertain 9_90401638_C->G 9 90401638 90401638 C G snp 505.77 0/1 99 58 32 26 0.45 ncRNA_intronic rs7039358 CTSL3P AU 0.44349 0.5823 0.439336 0.4709 0.5979 Uncertain 9_90472870_G->A 9 90472870 90472870 G A snp 231.77 0/1 99 12 5 7 0.58 downstream rs7469946 LOC392364 AU 0.455871 0.7103 Uncertain 9_90472942_T->C 9 90472942 90472942 T C snp 1173.77 0/1 99 105 60 45 0.43 downstream rs7467380 LOC392364 AU 0.454073 0.7212 Uncertain 9_90472952_G->A 9 90472952 90472952 G A snp 1234.77 0/1 99 128 75 53 0.41 downstream rs7469954 LOC392364 AU 0.454673 0.7212 Uncertain 9_90473092_-->GCT 9 90473092 90473092 - GCT indel 4926.73 0/1 99 198 107 91 0.46 ncRNA_exonic LOC392364 AU Uncertain 9_90473900_G->- 9 90473900 90473900 G - indel 1046.73 0/1 99 67 32 35 0.52 ncRNA_exonic rs34537969 LOC392364 AU 0.3276 0.6706 Uncertain 9_90473902_G->C 9 90473902 90473902 G C snp 760.77 0/1 99 67 32 35 0.52 ncRNA_exonic rs34415878 LOC392364 AU 0.3205 0.6765 Uncertain 9_90473914_A->C 9 90473914 90473914 A C snp 944.77 0/1 99 76 33 43 0.57 ncRNA_exonic rs7874019 LOC392364 AU 0.470447 0.7113 Uncertain 9_90473973_C->G 9 90473973 90473973 C G snp 1264.77 0/1 99 112 59 53 0.47 upstream rs7874197 LOC392364 AU 0.492013 0.7113 Uncertain 9_90474021_C->T 9 90474021 90474021 C T snp 1151.77 0/1 99 111 59 52 0.47 upstream rs13292077 LOC392364 AU 0.348842 0.4444 Uncertain 9_90474097_A->G 9 90474097 90474097 A G snp 519.77 0/1 99 56 30 26 0.46 upstream rs9695836 LOC392364 AU 0.470447 0.7113 Uncertain 9_90474106_GGAAGGCCTCAC->- 9 90474106 90474117 GGAAGGCCTCAC - indel 2410.73 0/1 99 44 22 22 0.5 upstream rs146503815 LOC392364 AU 0.470447 0.7113 Uncertain 9_90500405_A->C 9 90500405 90500405 A C snp 6033.77 1/1 99 221 0 221 1.0 exonic rs7850542 SPATA31E1 AU nonsynonymous SNV NM_178828 exon4 c.A1003C p.T335P 0.761781 0.878 0.656389 0.6239 0.8667 1 T 0.0 P -1.009 T 0.0 T 0.0 T Pathogenic 9_90501448_C->A 9 90501448 90501448 C A snp 3591.77 1/1 99 133 0 133 1.0 exonic rs4076795 SPATA31E1 AU nonsynonymous SNV NM_178828 exon4 c.C2046A p.D682E 0.760783 0.877 0.654875 0.6224 0.8669 1 T 0.0 P -0.995 T 0.0 T 0.0 T Pathogenic 9_90501514_C->G 9 90501514 90501514 C G snp 3558.77 1/1 99 125 0 125 1.0 exonic rs4076794 SPATA31E1 AU nonsynonymous SNV NM_178828 exon4 c.C2112G p.D704E 0.297923 0.253 0.243002 0.1707 0.2505 1 T 0.0 P -0.925 T 0.005 T 0.002 T Pathogenic 9_90502458_T->A 9 90502458 90502458 T A snp 2310.77 1/1 99 82 0 82 1.0 exonic rs10868670 SPATA31E1 AU nonsynonymous SNV NM_178828 exon4 c.T3056A p.V1019E 0.761781 0.88 0.655236 0.6223 0.8671 1 T 0.0 P -1.021 T 0.0 T 0.0 T ID=COSM4164086;OCCURENCE=1(thyroid) Pathogenic 9_90502819_T->C 9 90502819 90502819 T C snp 3526.77 1/1 99 123 0 123 1.0 exonic rs10868671 SPATA31E1 AU synonymous SNV NM_178828 exon4 c.T3417C p.T1139T 0.575879 0.5556 0.540750 0.5171 0.5453 Uncertain 9_90503313_C->G 9 90503313 90503313 C G snp 6357.77 1/1 99 232 3 229 0.99 exonic rs76003300 SPATA31E1 AU nonsynonymous SNV NM_178828 exon4 c.C3911G p.P1304R 0.113219 0.2192 0.044825 0.0530 0.2121 0.57 T 0.0 P -0.920 T 0.012 T 0.012 T Pathogenic 9_90503844_C->T 9 90503844 90503844 C T snp 1614.77 1/1 99 49 0 49 1.0 downstream rs79474340 SPATA31E1 AU 0.104633 0.2183 Uncertain 9_90534156_-->TCTTGTCTCCCAGCGTCA 9 90534156 90534156 - TCTTGTCTCCCAGCGTCA indel 4311.73 1/1 66 83 0 83 1.0 intronic rs11273503 SPATA31C1 AU NM_001145124 exon2 c.1264-13insTCTTGTCTCCCAGCGTCA 0.636496 Uncertain 9_90537892_G->C 9 90537892 90537892 G C snp 164.84 1/1 18 23 0 23 1.0 exonic rs147621256 SPATA31C1 AU nonsynonymous SNV NM_001145124 exon4 c.G3070C p.E1024Q 0.53754 0.6429 0.0007 0.0018 Pathogenic 9_90582224_G->A 9 90582224 90582224 G A snp 2460.77 0/1 99 207 108 99 0.48 UTR3 rs3750492 CDK20 AU 0.0792732 0.249 0.0305 0.2876 1 T 0.0 P Uncertain 9_90588814_C->G 9 90588814 90588814 C G snp 2383.77 0/1 99 157 61 96 0.61 intronic rs570184 CDK20 AU NM_001170640 exon5 c.6338-22C>G 0.800519 0.505 0.900200 0.8621 0.4977 Uncertain 9_90654133_A->G 9 90654133 90654133 A G snp 1061.77 0/1 99 78 38 40 0.51 intergenic rs12685332 CDK20 AU 0.0764776 0.25 Uncertain 9_90748449_C->T 9 90748449 90748449 C T snp 216.77 0/1 99 19 12 7 0.37 intronic rs545553976 SPATA31C2 AU NM_001166137 exon3 c.3962-59C>T 0.0585064 0.004 Uncertain 9_90748837_T->C 9 90748837 90748837 T C snp 176.9 1/1 15 5 0 5 1.0 intronic rs10868714 SPATA31C2 AU NM_001166137 exon3 c.4038+253T>C 0.965655 0.999 Uncertain 9_91083261_T->- 9 91083261 91083261 T - indel 421.73 0/1 99 69 29 40 0.58 intronic rs376917926 SPIN1 AU NM_006717 exon5 c.41832-25delT 0.329673 0.3482 0.3502 0.3815 Uncertain 9_91150242_C->G 9 91150242 91150242 C G snp 674.77 1/1 51 20 1 19 0.95 UTR5 rs78460940 NXNL2 AU 0.279553 0.7768 Uncertain 9_91262215_T->C 9 91262215 91262215 T C snp 952.77 0/1 99 72 33 39 0.54 UTR3 rs7048023 LOC286238 AU 0.202476 0.1706 Uncertain 9_91262296_G->A 9 91262296 91262296 G A snp 1663.77 0/1 99 129 54 75 0.58 UTR3 rs4543636 LOC286238 AU 0.452276 0.1786 0.511899 0.4121 0.1923 Uncertain 9_91262343_-->TGG 9 91262343 91262343 - TGG indel 3481.73 0/1 99 127 56 71 0.56 exonic rs397759669 LOC286238 AU nonframeshift insertion NM_001100111 exon2 c.299_300insCCA p.H100delinsHH 0.451877 0.1786 0.507126 0.4038 0.1895 Uncertain 9_91262387_G->A 9 91262387 91262387 G A snp 1412.77 0/1 99 104 49 55 0.53 exonic rs28550932 LOC286238 AU nonsynonymous SNV NM_001100111 exon2 c.C256T p.R86W 0.201478 0.1706 0.189423 0.1689 0.1825 Pathogenic 9_91262522_T->A 9 91262522 91262522 T A snp 1315.77 0/1 99 112 57 55 0.49 exonic rs28429833 LOC286238 AU nonsynonymous SNV NM_001100111 exon2 c.A121T p.N41Y 0.202476 0.1706 0.189414 0.1697 0.1820 Pathogenic 9_91262597_A->G 9 91262597 91262597 A G snp 695.77 0/1 99 53 28 25 0.47 intronic rs7862585 LOC286238 AU NM_001100111 exon1 c.272+22A>G 0.510982 0.1806 0.577285 0.4443 0.1885 Uncertain 9_91262618_T->C 9 91262618 91262618 T C snp 538.77 0/1 99 37 20 17 0.46 intronic rs28455807 LOC286238 AU NM_001100111 exon1 c.272+43T>C 0.268371 0.1726 0.257413 0.2124 0.1833 Uncertain 9_91360612_T->C 9 91360612 91360612 T C snp 385.77 0/1 99 28 11 17 0.61 downstream rs28624420 MIR4289 AU 0.469848 0.5556 Uncertain 9_91606203_C->G 9 91606203 91606203 C G snp 155.77 0/1 99 10 4 6 0.6 intronic rs4877039 C9orf47 AU NM_001001938 exon1 c.246+47C>G 0.434505 0.3383 0.346195 0.4370 0.328 Uncertain 9_91628546_A->C 9 91628546 91628546 A C snp 2579.77 1/1 99 98 0 98 1.0 intronic rs944483 SHC3 AU NM_016848 exon1 c.129+56A>C 0.977037 1 Uncertain 9_91652414_A->T 9 91652414 91652414 A T snp 5601.77 1/1 99 223 1 222 1.0 intronic rs2282125 SHC3 AU NM_016848 exon2 c.24546-493A>T 0.51897 0.9792 0.4949 0.9835 Uncertain 9_91653258_AAA->- 9 91653258 91653260 AAA - indel 396.73 0/1 60 31 4 27 0.87 intronic rs144228410 SHC3 AU NM_016848 exon2 c.24842+55_24842+57delAAA Uncertain 9_91653287_G->C 9 91653287 91653287 G C snp 677.77 1/1 51 22 0 22 1.0 intronic rs944481 SHC3 AU NM_016848 exon2 c.24842+84G>C Uncertain 9_91656963_T->C 9 91656963 91656963 T C snp 6720.77 1/1 99 250 0 250 1.0 exonic rs3750399 SHC3 AU synonymous SNV NM_016848 exon10 c.A1338G p.P446P 0.791534 0.9881 0.696755 0.7082 0.9876 Uncertain 9_91666812_C->A 9 91666812 91666812 C A snp 1260.77 1/1 90 44 0 44 1.0 intronic rs7021743 SHC3 AU NM_016848 exon6 c.38590-139C>A 0.754992 0.997 Uncertain 9_91667136_C->T 9 91667136 91667136 C T snp 682.77 1/1 51 19 0 19 1.0 intronic rs7025214 SHC3 AU NM_016848 exon6 c.38717+58C>T 0.755791 0.997 Uncertain 9_91680531_C->G 9 91680531 91680531 C G snp 2603.77 1/1 99 85 0 85 1.0 intronic rs3818668 SHC3 AU NM_016848 exon7 c.52134+36C>G 0.699481 0.9722 0.620098 0.7489 0.9784 Uncertain 9_91680600_A->G 9 91680600 91680600 A G snp 850.77 1/1 63 23 0 23 1.0 intronic rs9410455 SHC3 AU NM_016848 exon7 c.52134+105A>G 0.652955 0.9692 Uncertain 9_91934787_A->G 9 91934787 91934787 A G snp 412.77 0/1 99 21 9 12 0.57 intronic rs3763616 SECISBP2 AU NM_024077 exon2 c.1221+75A>G 0.796526 0.7034 Uncertain 9_91978636_T->C 9 91978636 91978636 T C snp 1383.77 0/1 99 123 67 56 0.46 intergenic rs28743146 SECISBP2 AU 0.0061901 0.0308 0.0035 0.0485 Uncertain 9_92003749_A->G 9 92003749 92003749 A G snp 1780.77 0/1 99 137 67 70 0.51 intronic rs7465881 SEMA4D AU NM_001142287 exon10 c.26470-37A>G 0.419529 0.2004 0.434338 0.4026 0.1914 Uncertain 9_92004137_G->A 9 92004137 92004137 G A snp 148.77 0/1 99 17 11 6 0.35 intronic rs57909602 SEMA4D AU NM_001142287 exon10 c.26646+175G>A 0.25599 0.1964 Uncertain 9_92020153_C->A 9 92020153 92020153 C A snp 621.77 0/1 99 41 22 19 0.46 intronic rs73654775 SEMA4D AU NM_001142287 exon17 c.42949-112C>A 0.141174 0.2907 Uncertain 9_92020159_T->C 9 92020159 92020159 T C snp 692.77 0/1 99 46 23 23 0.5 intronic rs13287862 SEMA4D AU NM_001142287 exon17 c.42949-106T>C 0.298123 0.3095 Uncertain 9_92020433_G->A 9 92020433 92020433 G A snp 2290.77 1/1 99 64 1 63 0.98 UTR5 rs7856677 SEMA4D AU 0.946885 0.9147 Uncertain 9_92219921_A->C 9 92219921 92219921 A C snp 1061.77 0/1 99 86 45 41 0.48 upstream rs3138499 GADD45G AU 0.410743 0.2639 Uncertain 9_92220499_G->T 9 92220499 92220499 G T snp 1820.77 0/1 99 168 92 76 0.45 intronic rs3138504 GADD45G AU NM_006705 exon2 c.412+51G>T 0.053115 0.1587 0.014460 0.0405 0.2678 Uncertain 9_92221010_C->T 9 92221010 92221010 C T snp 1189.77 0/1 99 87 39 48 0.55 UTR3 rs8252 GADD45G AU 0.108626 0.2411 0.042288 0.0624 0.3077 Uncertain 9_93606676_A->G 9 93606676 93606676 A G snp 1442.77 0/1 99 124 63 61 0.49 intronic rs2278275 SYK AU NM_001135052 exon2 c.417+79A>G 0.315296 0.3988 Uncertain 9_93624755_T->C 9 93624755 93624755 T C snp 548.77 1/1 42 14 0 14 1.0 intronic rs914928 SYK AU NM_001135052 exon4 c.18446+129T>C 0.886382 0.9573 Uncertain 9_93629347_G->A 9 93629347 93629347 G A snp 582.77 1/1 45 15 0 15 1.0 intronic rs1760124 SYK AU NM_003177 exon7 c.23232-65G>A 0.89397 0.9673 0.826763 Uncertain 9_93629789_C->G 9 93629789 93629789 C G snp 3559.77 1/1 99 129 0 129 1.0 intronic rs965892 SYK AU NM_003177 exon7 c.23301+308C>G 0.892971 0.9673 Uncertain 9_93636664_G->A 9 93636664 93636664 G A snp 728.77 0/1 99 49 18 31 0.63 intronic rs290227 SYK AU NM_001135052 exon7 c.30393+91G>A 0.415335 0.631 Uncertain 9_93636671_A->G 9 93636671 93636671 A G snp 688.77 0/1 99 43 15 28 0.65 intronic rs56367477 SYK AU NM_001135052 exon7 c.30393+98A>G 0.0772764 0.0655 Uncertain 9_93639803_A->G 9 93639803 93639803 A G snp 3756.77 1/1 99 123 0 123 1.0 intronic rs1760132 SYK AU NM_001135052 exon9 c.33672-49A>G 1 1 0.9999 1 Uncertain 9_93639849_G->A 9 93639849 93639849 G A snp 2685.77 0/1 99 226 109 117 0.52 splicing rs2290889 SYK AU NM_001135052 exon9 c.33672-3G>A 0.0846645 0.0665 0.050669 0.0681 0.0621 Pathogenic 9_93641296_C->T 9 93641296 93641296 C T snp 655.77 0/1 99 43 21 22 0.51 intronic rs2306038 SYK AU NM_001135052 exon10 c.35055+61C>T 0.0844649 0.0665 Uncertain 9_93982932_C->T 9 93982932 93982932 C T snp 40.77 0/1 69 5 3 2 0.4 intronic rs773515 AUH AR NM_001698 exon4 c.6457-154C>T 0.438898 0.3423 Uncertain 9_94118258_C->T 9 94118258 94118258 C T snp 1002.77 0/1 99 95 51 44 0.46 splicing rs10991898 AUH AR NM_001698 exon8 c.141623+6C>T 0.0958466 0.1746 0.084192 0.1079 0.1841 Pathogenic 9_94456490_A->G 9 94456490 94456490 A G snp 986.77 1/1 72 34 1 33 0.97 intergenic rs923772 MIR3910-1 AU 0.696286 0.7788 Uncertain 9_94456643_G->C 9 94456643 94456643 G C snp 1889.77 1/1 99 72 0 72 1.0 intergenic rs923771 MIR3910-1 AU 0.80611 0.9167 0.791900 0.7842 0.9206 Uncertain 9_94456705_T->A 9 94456705 94456705 T A snp 1173.77 1/1 84 43 0 43 1.0 intergenic rs923770 MIR3910-1 AU 0.696486 0.7788 0.689921 0.6639 0.7605 Uncertain 9_94456714_C->T 9 94456714 94456714 C T snp 1009.77 1/1 72 38 0 38 1.0 intergenic rs923769 MIR3910-1 AU 0.797524 0.9167 0.7543 0.8922 Uncertain 9_94485928_C->T 9 94485928 94485928 C T snp 1355.77 1/1 99 41 0 41 1.0 UTR3 rs2230578 ROR2 AR,AD 0.757388 0.9137 0.719735 0.7314 0.9281 Uncertain 9_94486321_C->T 9 94486321 94486321 C T snp 3758.77 1/1 99 136 0 136 1.0 exonic rs10761129 ROR2 AR,AD nonsynonymous SNV NM_004560 exon9 c.G2455A p.V819I 0.748003 0.9137 0.700738 0.7103 0.9287 1 T 0.0 P -0.939 T 0.0 T 0.0 T Pathogenic 9_94486688_G->A 9 94486688 94486688 G A snp 8169.77 1/1 99 250 0 250 1.0 exonic rs10992063 ROR2 AR,AD synonymous SNV NM_004560 exon9 c.C2088T p.Y696Y 0.415335 0.4246 0.432646 0.4268 0.3991 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000147386.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 ID=COSM3764059;OCCURENCE=1(thyroid),1(large_intestine) Uncertain 9_94495286_G->A 9 94495286 94495286 G A snp 88.28 1/1 9 3 0 3 1.0 intronic rs9409457 ROR2 AR,AD NM_004560 exon4 c.9460-117G>A 0.39377 0.4603 Uncertain 9_94495608_T->C 9 94495608 94495608 T C snp 5636.77 1/1 99 210 1 209 1.0 exonic rs10820900 ROR2 AR,AD nonsynonymous SNV NM_004560 exon6 c.A733G p.T245A 0.644968 0.5268 0.678841 0.6318 0.4762 1 T 0.000 P -0.925 T 0.0 T 0.004 T Pathogenic 9_94499618_G->A 9 94499618 94499618 G A snp 2220.77 1/1 99 84 0 84 1.0 intronic rs7855522 ROR2 AR,AD NM_004560 exon5 c.13729-54G>A 0.400559 0.4613 Uncertain 9_94499964_T->C 9 94499964 94499964 T C snp 48.74 1/1 6 2 0 2 1.0 intronic rs9409459 ROR2 AR,AD NM_004560 exon5 c.13857+164T>C 0.939097 0.8433 Uncertain 9_94518328_C->T 9 94518328 94518328 C T snp 3562.77 1/1 99 133 0 133 1.0 intronic rs12683181 ROR2 AR,AD NM_004560 exon6 c.32409-24C>T 0.623003 0.4931 0.700600 0.6752 0.4639 Uncertain 9_94519956_C->T 9 94519956 94519956 C T snp 31.77 0/1 60 6 4 2 0.33 intronic rs60617711 ROR2 AR,AD NM_004560 exon7 c.33898+115C>T 0.0652955 0.0992 Uncertain 9_94538167_T->C 9 94538167 94538167 T C snp 790.77 0/1 99 84 49 35 0.42 intronic rs3802377 ROR2 AR,AD NM_004560 exon8 c.52157+67T>C 0.0922524 0.126 Uncertain 9_94538200_C->T 9 94538200 94538200 C T snp 584.77 0/1 99 57 31 26 0.46 intronic rs3802378 ROR2 AR,AD NM_004560 exon8 c.52157+100C>T 0.0922524 0.126 Uncertain 9_94808174_C->G 9 94808174 94808174 C G snp 511.77 0/1 99 47 24 23 0.49 intronic rs144771830 SPTLC1 AD NM_001281303 exon4 c.13686-106C>G 0.00399361 0.0188 Uncertain 9_94939582_C->T 9 94939582 94939582 C T snp 1100.77 0/1 99 93 48 45 0.48 intergenic rs78422261 LINC00475 AU 0.0255591 0.121 Uncertain 9_95014777_G->A 9 95014777 95014777 G A snp 687.77 0/1 99 64 34 30 0.47 intronic rs541643257 IARS AR NM_013417 exon13 c.41079+610G>A Uncertain 9_95025223_A->C 9 95025223 95025223 A C snp 327.77 0/1 99 45 30 15 0.33 intronic rs780614421 IARS AR NM_013417 exon18 c.52162-27A>C 0.0002 0.0029 Uncertain 9_95036903_C->T 9 95036903 95036903 C T snp 1478.77 1/1 99 41 0 41 1.0 intronic rs2295940 IARS AR NM_013417 exon25 c.63715+100C>T 0.147364 0.4256 0.019273 Uncertain 9_95042917_G->C 9 95042917 95042917 G C snp 394.77 1/1 30 11 0 11 1.0 intronic rs3736835 IARS AR NM_013417 exon28 c.69939-110G>C 0.7502 0.6885 Uncertain 9_95064136_A->G 9 95064136 95064136 A G snp 424.77 0/1 99 35 14 21 0.6 intronic rs374568074 NOL8 AU NM_017948 exon5 c.3987+32A>G 0.000998403 0.004 0.0005 0.0080 Uncertain 9_95219597_G->A 9 95219597 95219597 G A snp 2450.77 1/1 99 89 1 88 0.99 exonic rs4744132 ASPN AU,AD synonymous SNV NM_017680 exon8 c.C1116T p.S372S 0.991014 1 0.987390 0.9841 1 Uncertain 9_95237025_TCA->- 9 95237025 95237027 TCA - indel 4406.73 1/1 99 134 0 134 1.0 exonic rs397838876 ASPN AU,AD nonframeshift deletion NM_017680 exon2 c.153_155del p.51_52del Uncertain 9_95256519_C->T 9 95256519 95256519 C T snp 5212.77 1/1 99 182 0 182 1.0 intronic rs331380 CENPP AU 0.445687 0.7887 Uncertain 9_95284982_T->G 9 95284982 95284982 T G snp 6086.77 1/1 99 227 0 227 1.0 exonic rs10120210 ECM2 AU nonsynonymous SNV NM_001393 exon2 c.A167C p.Q56P 0.737819 0.8056 0.671844 0.6214 0.7999 0.34 T 0.0 P -1.064 T 0.001 T 0.0 T ID=COSM3764061,COSM3764062;OCCURENCE=1(large_intestine) Pathogenic 9_95285222_T->C 9 95285222 95285222 T C snp 252.8 1/1 21 7 0 7 1.0 intronic rs10120292 CENPP AU NM_001286969 exon5 c.273726-88373T>C 0.738019 0.8056 Uncertain 9_95362665_G->A 9 95362665 95362665 G A snp 2361.77 1/1 99 78 0 78 1.0 UTR5 rs1874128 CENPP AU 0.405351 0.7252 Uncertain 9_95373884_A->G 9 95373884 95373884 A G snp 158.9 1/1 15 5 0 5 1.0 intronic rs1552908 CENPP AU NM_001286971 exon2 c.10930+209A>G 0.391573 0.7242 Uncertain 9_95375154_A->G 9 95375154 95375154 A G snp 176.9 1/1 15 5 0 5 1.0 intronic rs2281888 CENPP AU NM_001286971 exon4 c.12555-146A>G 0.408946 0.7262 Uncertain 9_95378353_G->A 9 95378353 95378353 G A snp 3074.77 1/1 99 114 0 114 1.0 intronic rs2274413 IPPK AU NM_022755 exon1 c.226+14G>A 0.408147 0.7262 0.255882 0.3812 0.7276 Uncertain 9_95380726_G->A 9 95380726 95380726 G A snp 6999.77 1/1 99 245 0 245 1.0 ncRNA_exonic rs2148537 LOC100128361 AU 0.313498 0.6726 0.2805 0.745 Uncertain 9_95397418_C->G 9 95397418 95397418 C G snp 2139.77 1/1 99 76 0 76 1.0 intronic rs1111047 IPPK AU NM_022755 exon4 c.19326-21C>G 0.752596 0.872 0.679533 0.6352 0.8697 Uncertain 9_95400642_C->T 9 95400642 95400642 C T snp 1259.77 1/1 90 42 0 42 1.0 intronic rs41266683 IPPK AU NM_022755 exon5 c.22449+80C>T 0.420527 0.7817 Uncertain 9_95414726_G->A 9 95414726 95414726 G A snp 84.28 1/1 9 4 0 4 1.0 intronic rs7853617 IPPK AU NM_022755 exon10 c.36741-128G>A 0.326078 0.7252 Uncertain 9_95414828_C->T 9 95414828 95414828 C T snp 870.77 1/1 63 33 0 33 1.0 intronic rs7857502 IPPK AU NM_022755 exon10 c.36741-26C>T 0.304313 0.7252 0.139320 0.2510 0.7350 Uncertain 9_95432002_G->A 9 95432002 95432002 G A snp 589.77 1/1 45 21 1 20 0.95 intronic rs754601 IPPK AU NM_022755 exon13 c.54076-187G>A 0.144169 0.4206 Uncertain 9_95432029_G->A 9 95432029 95432029 G A snp 968.77 1/1 75 35 5 30 0.86 intronic rs754600 IPPK AU NM_022755 exon13 c.54076-160G>A 0.307109 0.7312 Uncertain 9_95481975_C->G 9 95481975 95481975 C G snp 5467.77 1/1 99 198 0 198 1.0 intronic rs56339669 BICD2 AD NM_015250 exon4 c.6127+111C>G 0.400759 0.7679 Uncertain 9_95481994_C->T 9 95481994 95481994 C T snp 4243.77 1/1 99 142 2 140 0.99 intronic rs12238691 BICD2 AD NM_015250 exon4 c.6127+130C>T 0.303514 0.7212 Uncertain 9_95483198_A->G 9 95483198 95483198 A G snp 141.03 1/1 12 4 0 4 1.0 intronic rs12236118 BICD2 AD NM_015250 exon5 c.7300+161A>G 0.135783 0.4187 Uncertain 9_95526667_G->C 9 95526667 95526667 G C snp 546.77 1/1 42 14 0 14 1.0 intronic rs2277164 BICD2 AD NM_015250 exon8 c.51049-119G>C 0.395567 0.7679 Uncertain 9_95527083_-->GCCGCC 9 95527083 95527083 - GCCGCC indel 701.73 1/1 43 33 0 33 1.0 UTR5 BICD2 AD Uncertain 9_95527095_T->C 9 95527095 95527095 T C snp 741.77 1/1 54 26 0 26 1.0 upstream rs191031181 BICD2 AD 0.306909 0.7212 Uncertain 9_95571831_G->A 9 95571831 95571831 G A snp 214.84 1/1 18 6 0 6 1.0 upstream rs117474329 ANKRD19P AU 0.131589 0.372 Uncertain 9_95580727_TTTG->- 9 95580727 95580730 TTTG - indel 4987.73 1/1 99 114 0 114 1.0 ncRNA_intronic rs143411689 ANKRD19P AU 0.564826 0.5476 0.5272 Uncertain 9_95580738_G->T 9 95580738 95580738 G T snp 108.77 0/1 99 83 70 13 0.16 ncRNA_intronic rs13286251 ANKRD19P AU Uncertain 9_95580746_T->- 9 95580746 95580746 T - indel 1295.73 1/1 99 71 1 70 0.99 ncRNA_intronic rs570315502 ANKRD19P AU 0.827077 0.8274 0.6759 0.7059 Uncertain 9_95609564_C->T 9 95609564 95609564 C T snp 6728.77 1/1 99 233 0 233 1.0 exonic rs3739602 ZNF484 AU nonsynonymous SNV NM_001007101 exon4 c.G1397A p.G466D 0.076877 0.2937 0.009534 0.0378 0.2848 0.03 T 0.379 P -1.038 T 0.999 D 0.907 D Pathogenic 9_95618606_A->- 9 95618606 95618606 A - indel 131.5 0/1 3 20 1 19 0.95 splicing rs398087432 ZNF484 AU NM_031486 exon3 c.10091+6delA 0.221645 0.3978 0.149238 0.1845 0.4203 Pathogenic 9_95780465_A->G 9 95780465 95780465 A G snp 6470.77 1/1 99 249 0 249 1.0 exonic rs7048975 FGD3 AU synonymous SNV NM_001083536 exon11 c.A1323G p.T441T 0.998802 1 0.997542 0.9957 1 Uncertain 9_95784499_C->G 9 95784499 95784499 C G snp 922.77 0/1 99 69 34 35 0.51 intronic FGD3 AU NM_001083536 exon14 c.46070-109C>G Uncertain 9_95872744_C->T 9 95872744 95872744 C T snp 2356.77 1/1 99 71 0 71 1.0 intronic rs3819011 C9orf89 AU NM_032310 exon3 c.14222-105C>T 0.664736 0.6032 Uncertain 9_95874070_G->C 9 95874070 95874070 G C snp 1761.77 1/1 99 62 0 62 1.0 intronic rs2027585 C9orf89 AU NM_032310 exon4 c.15533-90G>C 0.665735 0.6042 Uncertain 9_95874428_G->A 9 95874428 95874428 G A snp 384.77 1/1 30 12 0 12 1.0 intronic rs10821071 C9orf89 AU NM_032310 exon5 c.15872-71G>A 0.452276 0.6022 Uncertain 9_95875556_G->A 9 95875556 95875556 G A snp 503.77 1/1 39 18 0 18 1.0 UTR3 rs2298242 C9orf89 AU 0.579872 0.6022 Uncertain 9_95875575_G->A 9 95875575 95875575 G A snp 336.78 1/1 27 9 0 9 1.0 downstream rs2298243 C9orf89 AU 0.559904 0.6022 Uncertain 9_95887320_G->T 9 95887320 95887320 G T snp 7154.77 1/1 99 245 1 244 1.0 exonic rs2275848 NINJ1 AU nonsynonymous SNV NM_004148 exon3 c.C329A p.A110D 0.789137 0.874 0.767415 0.8050 0.8901 0.54 T 0.999 P -1.030 T 0.936 T 0.799 D ID=CM077211;DIS=Reduced mRNA levels;TAG=FP;PUB=17825431 FP Pathogenic 9_95992213_A->G 9 95992213 95992213 A G snp 388.77 1/1 30 12 0 12 1.0 intronic rs7871272 WNK2 AU NM_001282394 exon2 c.44939+63A>G 0.947085 0.9048 Uncertain 9_95993170_A->G 9 95993170 95993170 A G snp 287.77 0/1 99 32 20 12 0.38 exonic rs7048527 WNK2 AU synonymous SNV NM_006648 exon3 c.A855G p.T285T 0.187899 0.253 0.160105 0.1620 0.2631 1.0 P -1.025 T Likely benign 9_95993429_G->C 9 95993429 95993429 G C snp 277.77 0/1 99 39 25 14 0.36 intronic rs7032194 WNK2 AU NM_001282394 exon3 c.46179+39G>C 0.1873 0.254 0.160234 0.1538 0.2523 Uncertain 9_96000622_C->T 9 96000622 96000622 C T snp 2742.77 1/1 99 105 0 105 1.0 intronic rs1539670 WNK2 AU NM_001282394 exon5 c.53392+19C>T 0.94349 0.9107 0.968245 0.9482 0.8964 Uncertain 9_96015377_A->G 9 96015377 96015377 A G snp 687.77 1/1 51 17 0 17 1.0 intronic rs4744202 WNK2 AU NM_001282394 exon8 c.68153+13A>G 0.948283 0.9058 0.970680 0.9528 0.9142 Uncertain 9_96019118_A->G 9 96019118 96019118 A G snp 221.84 1/1 18 8 0 8 1.0 intronic rs10122466 WNK2 AU NM_001282394 exon10 c.72018-111A>G 0.948283 0.9058 Uncertain 9_96024794_T->C 9 96024794 96024794 T C snp 602.77 1/1 45 18 0 18 1.0 intronic rs7854000 WNK2 AU NM_001282394 exon13 c.77740-157T>C 0.947684 0.9038 Uncertain 9_96024859_A->G 9 96024859 96024859 A G snp 1844.77 1/1 99 62 0 62 1.0 intronic rs1936403 WNK2 AU NM_001282394 exon13 c.77740-92A>G 0.953474 0.9206 Uncertain 9_96025717_-->AG 9 96025717 96025717 - AG indel 1626.73 1/1 90 30 0 30 1.0 intronic rs10649709 WNK2 AU NM_001282394 exon14 c.78636-130insAG 0.947684 0.9038 Uncertain 9_96025771_G->A 9 96025771 96025771 G A snp 2075.77 1/1 99 74 0 74 1.0 intronic rs6479467 WNK2 AU NM_001282394 exon14 c.78636-76G>A 0.947684 0.9038 Uncertain 9_96026122_-->G 9 96026122 96026122 - G indel 598.73 1/1 42 14 0 14 1.0 intronic rs147436035 WNK2 AU NM_001282394 exon15 c.78987-76insG 1 1 Uncertain 9_96030230_T->C 9 96030230 96030230 T C snp 4112.77 1/1 99 137 0 137 1.0 intronic rs7856268 WNK2 AU NM_001282394 exon16 c.82987+32T>C 0.891374 0.999 0.868385 0.9403 0.9998 Uncertain 9_96030392_G->T 9 96030392 96030392 G T snp 2450.77 1/1 99 88 0 88 1.0 intronic rs10761205 WNK2 AU NM_001282394 exon17 c.83136+45G>T 0.393371 0.4196 0.315194 0.3663 0.4348 Uncertain 9_96031160_C->T 9 96031160 96031160 C T snp 1426.77 0/1 99 132 72 60 0.45 intronic rs78743606 WNK2 AU NM_001282394 exon19 c.83910+39C>T 0.000998403 0.005 0.0005 0.0032 0.07 T 1 N -1.029 T 0.0 T 0.0 T ID=COSM99216;OCCURENCE=1(stomach) Uncertain 9_96031262_T->C 9 96031262 96031262 T C snp 2369.77 1/1 99 83 0 83 1.0 intronic rs1936401 WNK2 AU NM_001282394 exon19 c.84021+30T>C 0.891374 0.999 0.902260 0.9487 0.9982 Uncertain 9_96050972_C->T 9 96050972 96050972 C T snp 1328.77 0/1 99 110 62 48 0.44 intronic rs41308906 WNK2 AU NM_001282394 exon20 c.103858-97C>T 0.0648962 0.0327 Uncertain 9_96051521_A->G 9 96051521 96051521 A G snp 1813.77 1/1 99 50 0 50 1.0 exonic rs2169756 WNK2 AU synonymous SNV NM_006648 exon19 c.A4485G p.Q1495Q 0.920527 0.999 0.905583 0.9500 0.9997 0.001 P -1.030 T ID=COSM3750189,COSM3750191,COSM3750190;OCCURENCE=12(large_intestine) Likely benign 9_96052295_C->G 9 96052295 96052295 C G snp 811.77 0/1 99 71 36 35 0.49 exonic rs4744216 WNK2 AU synonymous SNV NM_006648 exon20 c.C4902G p.A1634A 0.101438 0.0794 0.107616 0.1783 0.1570 0.000 P -1.048 T Likely benign 9_96055063_C->T 9 96055063 96055063 C T snp 4027.77 1/1 99 159 1 158 0.99 exonic rs41278286 WNK2 AU synonymous SNV NM_006648 exon22 c.C5316T p.D1772D 0.392372 0.4206 0.305560 0.4516 0.5198 1.000 P -0.922 T ID=COSM3764070,COSM3764069;OCCURENCE=1(large_intestine),1(thyroid) Likely benign 9_96061269_A->G 9 96061269 96061269 A G snp 50.74 1/1 6 2 0 2 1.0 intronic rs1111776 WNK2 AU NM_001282394 exon25 c.114140-82A>G 0.920727 0.999 Uncertain 9_96082919_A->G 9 96082919 96082919 A G snp 182.9 1/1 15 5 0 5 1.0 intronic rs13293217 C9orf129 AU NM_001098808 exon2 c.777+1463A>G 0.610423 0.5794 Uncertain 9_96097662_G->A 9 96097662 96097662 G A snp 1900.77 0/1 99 165 75 90 0.55 exonic rs4744219 C9orf129 AU nonsynonymous SNV NM_001098808 exon3 c.C359T p.A120V 0.0628994 0.0337 0.1085 0.0259 0.01 T 0.171 P -1.053 T 0.695 T 0.08 P ID=COSM3764071;OCCURENCE=1(thyroid),1(large_intestine) Pathogenic 9_96097673_G->A 9 96097673 96097673 G A snp 1658.77 0/1 99 183 105 78 0.43 exonic rs62574460 C9orf129 AU synonymous SNV NM_001098808 exon3 c.C348T p.G116G 0.269169 0.3601 0.2416 0.3606 ID=COSM3849098;OCCURENCE=1(thyroid),1(breast) Uncertain 9_96097747_C->T 9 96097747 96097747 C T snp 2808.77 0/1 99 250 119 131 0.52 exonic rs3122944 C9orf129 AU nonsynonymous SNV NM_001098808 exon3 c.G274A p.G92S 0.630591 0.63 0.7128 0.6354 0 D 0.969 P -1.052 T 1.0 D 0.996 D ID=COSM4164135;OCCURENCE=1(thyroid) Pathogenic 9_96097916_G->A 9 96097916 96097916 G A snp 331.77 0/1 99 169 133 36 0.21 exonic rs199652907 C9orf129 AU synonymous SNV NM_001098808 exon3 c.C105T p.G35G 0.0626997 0.0357 0.1624 0.0471 ID=COSM3849099;OCCURENCE=1(thyroid),1(breast) Uncertain 9_96209943_T->C 9 96209943 96209943 T C snp 1534.77 0/1 99 100 37 63 0.63 exonic rs10821128 FAM120AOS AU nonsynonymous SNV NM_198841 exon3 c.A721G p.K241E 0.227236 0.4117 0.253806 0.2970 0.4424 0 D 0.0 P -0.939 T 0.0 T 0.0 T Pathogenic 9_96209988_A->- 9 96209988 96209988 A - indel 198.73 0/1 99 33 15 18 0.55 intronic rs139372739 FAM120AOS AU NM_198841 exon1 c.87+9delA 0.11861 0.0665 0.212003 0.2726 0.1774 ID=COSM1625258;OCCURENCE=1(liver) Uncertain 9_96214928_G->A 9 96214928 96214928 G A snp 806.77 0/1 99 79 45 34 0.43 exonic rs1055710 FAM120AOS AU nonsynonymous SNV NM_198841 exon1 c.C64T p.L22F 0.289736 0.4187 0.273864 0.3201 0.4570 0.25 T 0.000 P -0.953 T 0.048 T 0.015 T ID=COSM3764072;OCCURENCE=1(thyroid),1(large_intestine) Pathogenic 9_96238578_C->T 9 96238578 96238578 C T snp 1830.77 0/1 99 153 77 76 0.5 exonic rs10821135 FAM120A AU synonymous SNV NM_014612 exon3 c.C762T p.H254H 0.524561 0.5972 0.549977 0.4968 0.6217 1.0 P -0.959 T Likely benign 9_96238731_C->T 9 96238731 96238731 C T snp 336.77 0/1 99 23 12 11 0.48 intronic rs10821136 FAM120A AU NM_014612 exon3 c.24423+111C>T 0.231829 0.4087 Uncertain 9_96285363_T->C 9 96285363 96285363 T C snp 130.77 0/1 99 13 8 5 0.38 intronic rs4744254 FAM120A AU NM_014612 exon8 c.75239-4073T>C 0.246406 0.4097 Uncertain 9_96289269_C->T 9 96289269 96289269 C T snp 41.77 0/1 70 4 2 2 0.5 intronic rs10739950 FAM120A AU NM_014612 exon8 c.75239-167C>T 0.246406 0.4097 Uncertain 9_96292025_A->T 9 96292025 96292025 A T snp 131.77 0/1 99 17 12 5 0.29 intronic rs10761232 FAM120A AU NM_014612 exon9 c.77665+163A>T 0.246406 0.4097 0.3160 0.3989 Uncertain 9_96392019_A->G 9 96392019 96392019 A G snp 90.28 1/1 9 3 0 3 1.0 intronic rs7865712 PHF2 AU NM_005392 exon2 c.53196-232A>G 0.66254 0.7113 Uncertain 9_96392029_G->T 9 96392029 96392029 G T snp 77.77 0/1 99 7 4 3 0.43 intronic rs10992811 PHF2 AU NM_005392 exon2 c.53196-222G>T 0.0433307 0.0833 Uncertain 9_96398508_A->G 9 96398508 96398508 A G snp 425.77 1/1 33 12 0 12 1.0 intronic rs2398851 PHF2 AU NM_005392 exon3 c.59637-184A>G 0.545327 0.5089 Uncertain 9_96398656_G->A 9 96398656 96398656 G A snp 951.77 0/1 99 89 47 42 0.47 intronic rs2398852 PHF2 AU NM_005392 exon3 c.59637-36G>A 0.0549121 0.0804 0.030596 0.0380 0.1549 Uncertain 9_96398831_C->G 9 96398831 96398831 C G snp 747.77 0/1 99 42 16 26 0.62 intronic rs10992818 PHF2 AU NM_005392 exon3 c.59752+24C>G 0.105831 0.0506 0.150379 0.1621 0.0505 Uncertain 9_96398857_A->C 9 96398857 96398857 A C snp 215.77 0/1 99 22 13 9 0.41 intronic rs116912871 PHF2 AU NM_005392 exon3 c.59752+50A>C 0.0347444 0.0843 0.010743 0.0186 0.1127 Uncertain 9_96407822_A->G 9 96407822 96407822 A G snp 1159.77 1/1 84 41 0 41 1.0 intronic rs6479500 PHF2 AU NM_005392 exon4 c.68855-88A>G 0.544529 0.5089 Uncertain 9_96407848_A->G 9 96407848 96407848 A G snp 515.77 0/1 99 51 27 24 0.47 intronic rs7851271 PHF2 AU NM_005392 exon4 c.68855-62A>G 0.302316 0.374 Uncertain 9_96407983_C->T 9 96407983 96407983 C T snp 546.77 0/1 99 55 31 24 0.44 exonic rs9695734 PHF2 AU synonymous SNV NM_005392 exon4 c.C372T p.T124T 0.105831 0.0506 0.156389 0.1316 0.0354 Uncertain 9_96415368_G->A 9 96415368 96415368 G A snp 83.77 0/1 72 7 3 4 0.57 intronic rs10992828 PHF2 AU NM_005392 exon6 c.76405-92G>A 0.142372 0.119 Uncertain 9_96415412_A->G 9 96415412 96415412 A G snp 198.77 0/1 99 27 19 8 0.3 intronic rs3750353 PHF2 AU NM_005392 exon6 c.76405-48A>G 0.0357428 0.0813 0.011919 0.0288 0.1092 Uncertain 9_96415653_C->T 9 96415653 96415653 C T snp 802.77 0/1 99 59 28 31 0.53 splicing rs3750354 PHF2 AU NM_005392 exon6 c.76592+6C>T 0.308706 0.373 0.363294 0.3529 0.4015 Pathogenic 9_96416654_A->C 9 96416654 96416654 A C snp 2269.77 0/1 99 214 113 101 0.47 intronic rs117671021 PHF2 AU NM_005392 exon7 c.77639-40A>C 0.00279553 0.0139 0.0013 0.0170 Uncertain 9_96418957_T->A 9 96418957 96418957 T A snp 155.77 0/1 99 10 5 5 0.5 intronic rs75555279 PHF2 AU NM_005392 exon9 c.79822+80T>A 0.0357428 0.0813 Uncertain 9_96420390_A->G 9 96420390 96420390 A G snp 1700.77 1/1 99 66 0 66 1.0 intronic rs3763605 PHF2 AU NM_005392 exon10 c.81371-36A>G 0.52516 0.4931 0.656101 0.5875 0.5291 Uncertain 9_96421546_T->A 9 96421546 96421546 T A snp 54.74 1/1 6 2 0 2 1.0 intronic rs10761251 PHF2 AU NM_005392 exon11 c.82737-246T>A 0.515176 0.4911 Uncertain 9_96422420_T->C 9 96422420 96422420 T C snp 4600.77 1/1 99 177 0 177 1.0 intronic rs10992836 PHF2 AU NM_005392 exon12 c.83418-53T>C 0.514177 0.4911 Uncertain 9_96425138_T->C 9 96425138 96425138 T C snp 590.77 1/1 45 16 0 16 1.0 intronic rs3750358 PHF2 AU NM_005392 exon13 c.86133-50T>C 0.514776 0.4931 0.644087 0.5677 0.4998 Uncertain 9_96425488_A->G 9 96425488 96425488 A G snp 300.77 0/1 91 16 6 10 0.63 intronic rs3750360 PHF2 AU NM_005392 exon13 c.86253+180A>G 0.0357428 0.0813 Uncertain 9_96426049_-->CACA 9 96426049 96426049 - CACA indel 632.73 1/1 33 15 0 15 1.0 intronic rs112327078 PHF2 AU NM_005392 exon14 c.86862+132insCACA 0.523163 0.505 Uncertain 9_96426083_T->C 9 96426083 96426083 T C snp 139.03 1/1 12 4 0 4 1.0 intronic rs7028306 PHF2 AU NM_005392 exon14 c.86862+166T>C 0.514177 0.4921 Uncertain 9_96428231_C->T 9 96428231 96428231 C T snp 1897.77 0/1 99 172 93 79 0.46 intronic rs80173486 PHF2 AU NM_005392 exon16 c.89216-40C>T 0.0393371 0.0813 0.016300 0.0296 0.1080 Uncertain 9_96428243_C->T 9 96428243 96428243 C T snp 2239.77 0/1 99 182 83 99 0.54 intronic rs41276198 PHF2 AU NM_005392 exon16 c.89216-28C>T 0.0922524 0.0506 0.141012 0.1264 0.0345 Uncertain 9_96439004_-->CCTGCCTCCACCACA 9 96439004 96439004 - CCTGCCTCCACCACA indel 2919.73 1/1 60 22 0 22 1.0 exonic rs149736720 PHF2 AU nonframeshift insertion NM_005392 exon21 c.2961_2962insCCTGCCTCCACCACA p.T987delinsTPASTT 0.473043 0.4246 0.5290 0.4915 ID=COSM305500;OCCURENCE=1(central_nervous_system) Uncertain 9_96440051_C->A 9 96440051 96440051 C A snp 584.77 0/1 99 52 28 24 0.46 UTR3 rs41276204 PHF2 AU 0.0930511 0.0516 Uncertain 9_96581893_A->G 9 96581893 96581893 A G snp 557.77 1/1 42 18 0 18 1.0 downstream rs4743934 MIR4291 AU 0.696086 0.8214 Uncertain 9_96715495_G->- 9 96715495 96715495 G - indel 120.73 0/1 99 15 10 5 0.33 intronic rs148132681 BARX1 AU NM_021570 exon3 c.1024+26delG 0.0896565 0.1111 0.088773 0.1534 0.2010 Uncertain 9_96717287_C->T 9 96717287 96717287 C T snp 545.77 0/1 99 76 48 28 0.37 exonic rs191789925 BARX1 AU nonsynonymous SNV NM_021570 exon1 c.G142A p.A48T 0.0894569 0.1111 0.1013 0.1230 0.55 T 1.000 P -0.851 T 0.805 T 0.483 P Pathogenic 9_96860287_A->G 9 96860287 96860287 A G snp 1641.77 0/1 99 126 64 62 0.49 exonic rs140525632 PTPDC1 AU nonsynonymous SNV NM_001253829 exon6 c.A1439G p.Q480R 0.000199681 0.001 0.0003 0.0030 0.07 T 0.523 D -0.986 T 0.688 T 0.165 P Pathogenic 9_96941227_T->G 9 96941227 96941227 T G snp 1215.77 0/1 99 152 90 62 0.41 ncRNA_intronic rs199896208 MIRLET7DHG AU 0.000798722 0.004 0.0005 0.0064 Uncertain 9_97055376_G->A 9 97055376 97055376 G A snp 2001.77 1/1 99 78 2 76 0.97 intronic rs1328305 ZNF169 AU NM_003448 exon4 c.14257+25G>A 0.198482 0.3601 0.066046 0.1375 0.4091 Uncertain 9_97062981_C->T 9 97062981 97062981 C T snp 6814.77 1/1 99 248 6 242 0.98 exonic rs12236219 ZNF169 AU nonsynonymous SNV NM_001301275 exon5 c.C568T p.R190C 0.174321 0.3542 0.055897 0.1091 0.3679 0 D 0.004 P -0.993 T 1.0 D 0.993 D ID=COSM3764076;OCCURENCE=1(large_intestine) Pathogenic 9_97080923_G->T 9 97080923 97080923 G T snp 746.77 0/1 99 82 46 36 0.44 exonic NUTM2F AU synonymous SNV NM_017561 exon7 c.C2095A p.R699R Uncertain 9_97080927_CTTGGA->- 9 97080927 97080932 CTTGGA - indel 2442.73 0/1 99 74 39 35 0.47 exonic NUTM2F AU nonframeshift deletion NM_017561 exon7 c.2086_2091del p.696_697del Uncertain 9_97080945_AGA->- 9 97080945 97080947 AGA - indel 2348.73 0/1 99 89 45 44 0.49 exonic rs150455117 NUTM2F AU nonframeshift deletion NM_017561 exon7 c.2071_2073del p.691_691del 0.754193 0.8869 0.704973 0.7416 0.9110 ID=COSM1319563,COSM302182;OCCURENCE=1(haematopoietic_and_lymphoid_tissue),1(central_nervous_system) Uncertain 9_97080948_A->G 9 97080948 97080948 A G snp 990.77 0/1 99 97 50 47 0.48 exonic rs12237782 NUTM2F AU synonymous SNV NM_017561 exon7 c.T2070C p.P690P 0.0395367 0.1131 0.1932 0.4736 Uncertain 9_97080953_A->C 9 97080953 97080953 A C snp 997.77 0/1 99 99 53 46 0.46 exonic rs11525962 NUTM2F AU nonsynonymous SNV NM_017561 exon7 c.T2065G p.S689A 0.0140 0.1170 1 T 1 N -0.939 T 0.0 T 0.0 T ID=COSM4007304;OCCURENCE=1(urinary_tract) Pathogenic 9_97081010_T->G 9 97081010 97081010 T G snp 1121.77 0/1 99 119 61 58 0.49 exonic rs12238047 NUTM2F AU synonymous SNV NM_017561 exon7 c.A2008C p.R670R 0.0694888 0.2143 0.010884 0.0609 0.3487 Uncertain 9_97081146_A->G 9 97081146 97081146 A G snp 874.77 0/1 99 118 57 61 0.52 exonic rs201655868 NUTM2F AU synonymous SNV NM_017561 exon7 c.T1872C p.H624H 0.014072 0.1325 0.4404 Uncertain 9_97081212_G->A 9 97081212 97081212 G A snp 281.77 0/1 99 149 126 23 0.15 exonic rs569440941 NUTM2F AU synonymous SNV NM_017561 exon7 c.C1806T p.T602T 0.000798722 0.004 0.0008 0.0086 Uncertain 9_97081252_G->C 9 97081252 97081252 G C snp 1278.77 0/1 99 140 57 83 0.59 exonic rs201719890 NUTM2F AU nonsynonymous SNV NM_017561 exon7 c.C1766G p.A589G 0.021633 0.0468 0.2830 0.52 T 1 N -1.022 T 0.951 T 0.76 D Pathogenic 9_97081263_G->C 9 97081263 97081263 G C snp 1236.77 0/1 99 142 60 82 0.58 exonic rs118014876 NUTM2F AU synonymous SNV NM_017561 exon7 c.C1755G p.P585P 0.014802 0.0449 0.2832 ID=COSM4007306,COSM4007305;OCCURENCE=1(urinary_tract) Uncertain 9_97081356_T->C 9 97081356 97081356 T C snp 422.77 1/1 42 44 0 44 1.0 exonic rs143377616 NUTM2F AU synonymous SNV NM_017561 exon7 c.A1662G p.T554T 0.812899 0.9931 0.0095 0.8205 Uncertain 9_97081795_A->G 9 97081795 97081795 A G snp 44.74 1/1 6 2 0 2 1.0 intronic rs150662309 NUTM2F AU NM_017561 exon2 c.1148-99A>G 0.84385 1 Uncertain 9_97082699_G->A 9 97082699 97082699 G A snp 473.77 1/1 36 19 0 19 1.0 exonic rs10993163 NUTM2F AU nonsynonymous SNV NM_017561 exon5 c.C1159T p.P387S 0.183506 0.3571 0.065381 0.1155 0.3690 0 D 0.000 P -1.044 T 1.0 D 1.0 D Pathogenic 9_97087823_G->C 9 97087823 97087823 G C snp 44.74 1/1 6 18 0 18 1.0 exonic rs202099818 NUTM2F AU nonsynonymous SNV NM_017561 exon2 c.C410G p.S137C 0.201478 0.3601 0.1156 0.4514 0.08 T 0.0 P -1.017 T 0.862 T 0.667 P Pathogenic 9_97087857_G->A 9 97087857 97087857 G A snp 127.03 1/1 12 22 2 20 0.91 exonic rs75315722 NUTM2F AU nonsynonymous SNV NM_017561 exon2 c.C376T p.L126F 0.23103 0.3433 0.3134 0.5040 1 T 0.0 P -0.943 T 0.012 T 0.037 T Pathogenic 9_97190662_G->A 9 97190662 97190662 G A snp 87.03 1/1 12 6 0 6 1.0 intronic rs117399794 HIATL1 AU NM_032558 exon3 c.54369-808G>A 0.751198 0.6567 Uncertain 9_97209066_T->C 9 97209066 97209066 T C snp 2402.77 1/1 99 84 0 84 1.0 intronic rs9409546 HIATL1 AU NM_032558 exon7 c.72003-38T>C 0.32508 0.3413 0.282946 0.3289 0.3652 Uncertain 9_97216541_A->G 9 97216541 97216541 A G snp 224.84 1/1 18 6 0 6 1.0 intronic rs7023744 HIATL1 AU NM_032558 exon9 c.79251+189A>G 0.505391 0.3919 Uncertain 9_97218342_C->T 9 97218342 97218342 C T snp 314.78 1/1 24 12 0 12 1.0 intronic rs2277182 HIATL1 AU NM_032558 exon10 c.81420-179C>T 0.504992 0.3919 Uncertain 9_97219679_TTTT->- 9 97219679 97219682 TTTT - indel 1400.73 1/1 63 21 0 21 1.0 intronic rs10570184 HIATL1 AU NM_032558 exon11 c.83502-924_83502-921delTTTT 0.504992 0.3919 Uncertain 9_97219735_-->TT 9 97219735 97219735 - TT indel 1953.73 1/1 99 62 0 62 1.0 intronic rs112270671 HIATL1 AU NM_032558 exon11 c.83502-868insTT 0.252796 0.2629 Uncertain 9_97220008_G->A 9 97220008 97220008 G A snp 562.77 1/1 42 18 0 18 1.0 intronic rs7031496 HIATL1 AU NM_032558 exon11 c.83502-595G>A 0.690096 0.4266 Uncertain 9_97221434_G->A 9 97221434 97221434 G A snp 4424.77 1/1 99 165 0 165 1.0 intronic rs9409765 HIATL1 AU NM_032558 exon12 c.84341-8G>A 0.504992 0.3919 0.493234 0.5016 0.4106 Uncertain 9_97321127_T->C 9 97321127 97321127 T C snp 712.77 0/1 99 52 24 28 0.54 ncRNA_intronic rs1048510 PCAT7 AU 0.361022 0.255 Uncertain 9_97321172_T->C 9 97321172 97321172 T C snp 936.77 0/1 99 88 46 42 0.48 ncRNA_exonic rs1543185 PCAT7 AU 0.128395 0.124 0.088575 0.0672 0.1554 Uncertain 9_97325726_A->G 9 97325726 97325726 A G snp 1226.77 0/1 99 85 34 51 0.6 exonic rs41281154 FBP2 AU synonymous SNV NM_003837 exon6 c.T723C p.Y241Y 0.130791 0.124 0.088267 0.0678 0.1534 Uncertain 9_97349666_C->G 9 97349666 97349666 C G snp 891.77 0/1 99 75 38 37 0.49 exonic rs573212 FBP2 AU nonsynonymous SNV NM_003837 exon2 c.G256C p.V86L 0.864816 0.8125 0.887129 0.8609 0.7962 1 T 0.136 P -0.913 T 0.0 T 0.001 T Pathogenic 9_97365642_G->A 9 97365642 97365642 G A snp 2046.77 1/1 99 73 0 73 1.0 UTR3 rs9695 FBP1 AR 0.487021 0.3998 0.505613 0.5244 0.4180 Uncertain 9_97365720_T->C 9 97365720 97365720 T C snp 4099.77 1/1 99 147 0 147 1.0 exonic rs1769257 FBP1 AR synonymous SNV NM_000507 exon7 c.A960G p.G320G 0.907149 0.9563 0.885284 0.8637 0.9563 ID=COSM3774392;OCCURENCE=1(kidney) Uncertain 9_97365985_G->A 9 97365985 97365985 G A snp 236.77 0/1 99 15 6 9 0.6 intronic rs3780554 FBP1 AR NM_000507 exon1 c.192+131G>A 0.345048 0.1984 Uncertain 9_97367899_AAGA->- 9 97367899 97367902 AAGA - indel 1960.73 0/1 99 70 32 38 0.54 intronic rs28369760 FBP1 AR NM_000507 exon2 c.2196+41_2196+44delAAGA 0.123802 0.2014 0.073722 0.0982 0.2187 Uncertain 9_97369083_G->A 9 97369083 97369083 G A snp 1191.77 1/1 87 44 0 44 1.0 intronic rs2297084 FBP1 AR NM_000507 exon3 c.3434-13G>A 0.483227 0.3978 0.503076 0.5266 0.4237 Uncertain 9_97369149_C->T 9 97369149 97369149 C T snp 2841.77 1/1 99 107 0 107 1.0 exonic rs1769259 FBP1 AR nonsynonymous SNV NM_000507 exon5 c.G653A p.R218K 0.976438 1 0.954406 0.9561 0.9999 1 T 0.000 P -0.943 T 0.0 T 0.001 T Pathogenic 9_97372172_C->T 9 97372172 97372172 C T snp 267.77 0/1 99 27 17 10 0.37 intronic rs3739747 FBP1 AR NM_000507 exon4 c.6540-30C>T 0.344249 0.1954 0.409657 0.4015 0.1691 Uncertain 9_97427531_C->A 9 97427531 97427531 C A snp 1293.77 0/1 99 133 74 59 0.44 intergenic rs4743965 FBP1 AR 0.432109 0.5278 0.3987 0.5310 Uncertain 9_97427555_G->A 9 97427555 97427555 G A snp 1245.77 0/1 99 116 61 55 0.47 intergenic rs183254240 FBP1 AR 0.000798722 0.004 0.0008 0.0149 Uncertain 9_97686330_G->A 9 97686330 97686330 G A snp 1776.77 0/1 99 145 69 76 0.52 exonic rs10993400 C9orf3 AU nonsynonymous SNV NM_001193329 exon5 c.G1427A p.R476H 0.0195687 0.0893 0.0081 0.0979 0.01 T 1 D -1.130 T 1.0 D 1.0 D Pathogenic 9_97729886_A->G 9 97729886 97729886 A G snp 215.77 0/1 99 18 10 8 0.44 intronic rs16911884 C9orf3 AU NM_001193329 exon9 c.207974-153A>G 0.114417 0.1151 Uncertain 9_97729934_A->T 9 97729934 97729934 A T snp 731.77 0/1 99 48 19 29 0.6 intronic rs16911886 C9orf3 AU NM_001193329 exon9 c.207974-105A>T 0.195687 0.1538 Uncertain 9_97730235_A->G 9 97730235 97730235 A G snp 305.77 0/1 99 20 8 12 0.6 intronic rs75090270 C9orf3 AU NM_001193329 exon9 c.208018+152A>G 0.067492 0.1151 Uncertain 9_97730244_C->A 9 97730244 97730244 C A snp 304.77 0/1 99 17 8 9 0.53 intronic rs72750344 C9orf3 AU NM_001193329 exon9 c.208018+161C>A 0.195288 0.1538 Uncertain 9_97767305_G->A 9 97767305 97767305 G A snp 79.77 0/1 99 13 7 6 0.46 intronic C9orf3 AU NM_001193329 exon11 c.245374-134G>A 1.000 N -1.015 T Uncertain 9_97768286_T->C 9 97768286 97768286 T C snp 310.77 0/1 99 45 31 14 0.31 intronic rs10761364 C9orf3 AU NM_001193329 exon12 c.245833+388T>C 0.691494 0.7331 0.7997 0.7137 0.25 T 0.0 P -1.032 T Uncertain 9_97822941_T->C 9 97822941 97822941 T C snp 6338.77 1/1 99 225 0 225 1.0 intronic rs1888944 C9orf3 AU NM_001193329 exon13 c.300910-34T>C 0.882188 0.9583 0.891896 0.9414 0.9490 Uncertain 9_97849090_A->G 9 97849090 97849090 A G snp 689.77 0/1 99 80 49 31 0.39 UTR3 rs4657 C9orf3 AU 0.651757 0.6052 Uncertain 9_97873435_G->A 9 97873435 97873435 G A snp 339.77 0/1 99 28 14 14 0.5 intronic rs2404457 FANCC AR NM_001243744 exon1 c.150-192G>A 0.411142 0.5873 0.3979 0.5596 Uncertain 9_97873957_A->G 9 97873957 97873957 A G snp 1862.77 0/1 99 126 51 75 0.6 intronic rs4647534 FANCC AR NM_001243743 exon3 c.9931+38A>G 0.541334 0.6339 0.463786 0.4738 0.6201 Uncertain 9_98011294_T->C 9 98011294 98011294 T C snp 241.77 0/1 99 21 12 9 0.43 intronic rs59787074 FANCC AR NM_001243743 exon14 c.147420-114T>C 0.0189696 0.0883 Uncertain 9_98211988_C->T 9 98211988 98211988 C T snp 295.77 0/1 99 25 12 13 0.52 intronic rs55758638 PTCH1 AU,AD NM_001083602 exon4 c.2929-134C>T 0.0107827 0.0288 Uncertain 9_98218474_-->C 9 98218474 98218474 - C indel 4402.73 1/1 99 105 0 105 1.0 intronic rs531236471 PTCH1 AU,AD NM_001083602 exon6 c.9364-83insC 0.409345 0.3433 Uncertain 9_98221861_T->C 9 98221861 98221861 T C snp 304.78 1/1 24 11 0 11 1.0 intronic rs2236406 PTCH1 AU,AD NM_001083602 exon8 c.12688-20T>C 0.392572 0.3433 0.455943 0.3563 0.3470 Uncertain 9_98224360_C->G 9 98224360 98224360 C G snp 2507.77 1/1 99 78 0 78 1.0 intronic rs2274692 PTCH1 AU,AD NM_001083602 exon9 c.15087+80C>G 0.401358 0.3433 Uncertain 9_98229297_G->A 9 98229297 98229297 G A snp 203.77 0/1 99 20 13 7 0.35 ncRNA_exonic rs2274693 LOC100507346 AU 0.172524 0.0833 Uncertain 9_98229389_C->G 9 98229389 98229389 C G snp 3680.77 1/1 99 119 0 119 1.0 ncRNA_exonic rs2066829 LOC100507346 AU 0.390575 0.3383 0.453944 0.3583 0.3414 Uncertain 9_98229391_G->A 9 98229391 98229391 G A snp 1076.77 0/1 99 123 76 47 0.38 ncRNA_exonic rs75576651 LOC100507346 AU 0.00159744 0.0079 0.0005 0.0072 CLINSIG=probable-non-pathogenic;CLNDBN=Gorlin_syndrome;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000123013.1;CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT;CLNDSDBID=NBK1151:C0004779:109400:ORPHA377:69408002 Uncertain 9_98230925_TT->- 9 98230925 98230926 TT - indel 775.73 ./1 99 29 0 29 1.0 ncRNA_intronic rs554771020 LOC100507346 AU 0.0153754 0.0278 Uncertain 9_98230925_T->- 9 98230925 98230925 T - indel 775.73 ./1 99 29 0 29 1.0 ncRNA_intronic rs35352942 LOC100507346 AU 0.373203 0.3105 Uncertain 9_98231084_T->C 9 98231084 98231084 T C snp 1534.77 0/1 99 141 73 68 0.48 exonic rs2227970 PTCH1 AU,AD synonymous SNV NM_000264 exon14 c.A2199G p.S733S 0.013778 0.0278 0.010687 0.0146 0.0265 CLINSIG=non-pathogenic;CLNDBN=Gorlin_syndrome;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000119128.1;CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT;CLNDSDBID=NBK1151:C0004779:109400:ORPHA377:69408002 Uncertain 9_98238358_G->A 9 98238358 98238358 G A snp 541.77 0/1 99 52 29 23 0.44 exonic rs2066836 PTCH1 AU,AD synonymous SNV NM_000264 exon12 c.C1686T p.A562A 0.091853 0.0833 0.157543 0.1739 0.1039 ID=COSM1756287;OCCURENCE=2(urinary_tract) Uncertain 9_98238379_A->G 9 98238379 98238379 A G snp 760.77 0/1 99 60 28 32 0.53 exonic rs1805155 PTCH1 AU,AD synonymous SNV NM_000264 exon12 c.T1665C p.N555N 0.111621 0.1131 0.130940 0.1079 0.1053 CLINSIG=non-pathogenic;CLNDBN=not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000127645.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Uncertain 9_98240120_G->A 9 98240120 98240120 G A snp 438.77 1/1 33 13 0 13 1.0 intronic rs2297086 PTCH1 AU,AD NM_001083602 exon15 c.30791+136G>A 0.400958 0.3383 Uncertain 9_98241139_G->A 9 98241139 98241139 G A snp 411.77 0/1 99 28 14 14 0.5 intronic rs55986818 PTCH1 AU,AD NM_001083602 exon17 c.32088-142G>A 0.0127796 0.0278 Uncertain 9_98242112_A->G 9 98242112 98242112 A G snp 624.77 0/1 99 35 12 23 0.66 intronic rs2274694 PTCH1 AU,AD NM_001083602 exon18 c.33057-138A>G 0.170727 0.0833 Uncertain 9_98242925_A->G 9 98242925 98242925 A G snp 996.77 0/1 99 69 28 41 0.59 intronic rs2297087 PTCH1 AU,AD NM_001083602 exon19 c.33677+55A>G 0.16853 0.0833 Uncertain 9_98242984_G->A 9 98242984 98242984 G A snp 694.77 1/1 51 19 0 19 1.0 intronic rs2297088 PTCH1 AU,AD NM_001083602 exon19 c.33677+114G>A 0.400759 0.3373 Uncertain 9_98270321_GTGAGTGT->- 9 98270321 98270328 GTGAGTGT - indel 1306.77 1/1 20 15 1 14 0.93 intronic rs148507954 PTCH1 AU,AD NM_001083605 exon24 c.61129-1_61129+6delGTGAGTGT Uncertain 9_98278644_C->A 9 98278644 98278644 C A snp 596.77 1/1 45 18 0 18 1.0 intronic rs28591501 PTCH1 AU,AD NM_001083602 exon24 c.69557-106C>A 0.324481 0.3026 Uncertain 9_98678164_G->T 9 98678164 98678164 G T snp 1035.77 1/1 75 29 0 29 1.0 intronic rs683829 ERCC6L2 AR NM_001010895 exon5 c.39824+53G>T 0.784145 0.756 Uncertain 9_98685797_A->G 9 98685797 98685797 A G snp 759.77 1/1 57 19 0 19 1.0 intronic rs3824492 ERCC6L2 AR NM_001010895 exon9 c.47374+136A>G 0.353235 0.378 Uncertain 9_98691137_T->C 9 98691137 98691137 T C snp 2681.77 1/1 99 86 0 86 1.0 exonic rs2274654 ERCC6L2 AR nonsynonymous SNV NM_001010895 exon11 c.T1775C p.V592A 0.227037 0.2639 0.162156 0.1919 0.2678 0 D 1.0 P -1.163 T 0.999 D 0.969 D Pathogenic 9_98694641_T->C 9 98694641 98694641 T C snp 348.78 1/1 27 15 0 15 1.0 intronic rs10760675 ERCC6L2 AR NM_001010895 exon11 c.52859+3495T>C 0.641773 0.756 Uncertain 9_98734670_C->T 9 98734670 98734670 C T snp 2655.77 1/1 99 94 0 94 1.0 intergenic rs3088294 ERCC6L2 AR 0.381789 0.3819 0.3432 0.4406 Uncertain 9_98734891_A->T 9 98734891 98734891 A T snp 3634.77 1/1 99 119 0 119 1.0 intergenic rs3780574 ERCC6L2 AR 0.161741 0.1577 0.1953 0.2188 Uncertain 9_98766861_G->T 9 98766861 98766861 G T snp 3788.77 1/1 99 139 1 138 0.99 intergenic rs12683634 ERCC6L2 AR 0.160743 0.1448 0.113100 0.1926 0.2253 0.0 P -1.013 T Uncertain 9_98871378_C->T 9 98871378 98871378 C T snp 161.77 0/1 61 7 2 5 0.71 intronic rs10819868 LOC158434 AU NM_001256408 exon1 c.290+60C>T 0.373203 0.4167 Uncertain 9_98997911_TCTTTGTGG->- 9 98997911 98997919 TCTTTGTGG - indel 7994.73 1/1 99 100 0 100 1.0 intronic rs3831056 HSD17B3 AR NM_000197 exon1 c.111+59_111+67delTCTTTGTGG 0.415735 0.4643 Uncertain 9_99003264_C->T 9 99003264 99003264 C T snp 1966.77 1/1 99 70 1 69 0.99 intronic rs2066485 HSD17B3 AR NM_000197 exon2 c.5448+75C>T 0.869609 0.8373 Uncertain 9_99013663_A->G 9 99013663 99013663 A G snp 2624.77 1/1 99 92 0 92 1.0 intronic rs408876 HSD17B3 AR NM_000197 exon7 c.15958-36A>G 0.867412 0.8373 0.880286 0.8480 0.8479 Uncertain 9_99060612_T->C 9 99060612 99060612 T C snp 1427.77 0/1 99 115 55 60 0.52 intronic rs7029101 HSD17B3 AR NM_000197 exon10 c.62956-85T>C 0.35603 0.246 0.414586 Uncertain 9_99060882_G->A 9 99060882 99060882 G A snp 149.77 0/1 99 10 4 6 0.6 intronic rs3925451 HSD17B3 AR NM_000197 exon10 c.63003+138G>A 0.357228 0.253 Uncertain 9_99064425_T->C 9 99064425 99064425 T C snp 387.77 0/1 99 33 16 17 0.52 UTR5 rs2066474 HSD17B3 AR 0.279153 0.4821 0.174381 0.2581 0.5113 Uncertain 9_99084181_G->A 9 99084181 99084181 G A snp 1266.77 0/1 99 121 66 55 0.45 intronic rs2026002 SLC35D2 AU NM_007001 exon2 c.756-98G>A 0.171725 0.2728 Uncertain 9_99086282_C->A 9 99086282 99086282 C A snp 456.77 0/1 99 38 19 19 0.5 intronic rs72621424 SLC35D2 AU NM_007001 exon3 c.2849-90C>A 0.185503 0.2986 Uncertain 9_99086550_C->T 9 99086550 99086550 C T snp 68.77 0/1 97 11 8 3 0.27 intronic rs7038558 SLC35D2 AU NM_007001 exon3 c.2928+99C>T 0.189097 0.2996 Uncertain 9_99265891_T->A 9 99265891 99265891 T A snp 108.77 0/1 99 10 6 4 0.4 UTR3 rs186140366 CDC14B AU 0.000798722 0.004 Uncertain 9_99520939_C->G 9 99520939 99520939 C G snp 56.74 1/1 6 2 0 2 1.0 UTR3 rs16911517 ZNF510 AU 0.033147 0.1091 Uncertain 9_99521123_T->C 9 99521123 99521123 T C snp 3493.77 1/1 99 122 0 122 1.0 exonic rs16911522 ZNF510 AU synonymous SNV NM_014930 exon6 c.A1989G p.K663K 0.033147 0.1091 0.000692 0.0182 0.1104 Uncertain 9_99525487_A->G 9 99525487 99525487 A G snp 4031.77 1/1 99 158 1 157 0.99 exonic rs3780548 ZNF510 AU nonsynonymous SNV NM_014930 exon5 c.T265C p.C89R 0.0926518 0.1081 0.070121 0.0370 0.1102 0.2 T 0.0 P -1.023 T 0.0 T 0.0 T Pathogenic 9_99537296_TCT->- 9 99537296 99537298 TCT - indel 1183.73 1/1 60 24 0 24 1.0 intronic rs368296468 ZNF510 AU NM_014930 exon4 c.16069+168_16069+170delTCT 0.0696885 0.1091 Uncertain 9_99538165_-->T 9 99538165 99538165 - T indel 2697.73 1/1 99 77 0 77 1.0 intronic rs3214730 ZNF510 AU NM_014930 exon5 c.17222-116insT 0.0329473 0.1091 Uncertain 9_99538169_C->T 9 99538169 99538169 C T snp 2187.77 1/1 99 78 0 78 1.0 intronic rs2289650 ZNF510 AU NM_014930 exon5 c.17222-112C>T 0.0329473 0.1091 Uncertain 9_99580834_A->C 9 99580834 99580834 A C snp 4300.77 1/1 99 149 2 147 0.99 exonic rs75989782 ZNF782 AU nonsynonymous SNV NM_001001662 exon6 c.T1471G p.S491A 0.033147 0.1101 0.000692 0.0180 0.1114 0.09 T 1 N -1.083 T 0.868 T 0.504 P Pathogenic 9_99581811_C->T 9 99581811 99581811 C T snp 6593.77 1/1 99 229 0 229 1.0 exonic rs4645656 ZNF782 AU nonsynonymous SNV NM_001001662 exon6 c.G494A p.R165H 0.272364 0.3185 0.198216 0.1083 0.3426 0.5 T 0.0 P -0.984 T 0.0 T 0.0 T Pathogenic 9_99581916_C->G 9 99581916 99581916 C G snp 5303.77 1/1 99 187 1 186 0.99 exonic rs7870376 ZNF782 AU nonsynonymous SNV NM_001001662 exon6 c.G389C p.R130P 0.21865 0.3185 0.140935 0.0927 0.3427 1 T 0.137 P -0.939 T 0.0 T 0.0 T Pathogenic 9_99589296_C->T 9 99589296 99589296 C T snp 549.77 1/1 42 17 0 17 1.0 intronic rs7848710 ZNF782 AU NM_001001662 exon2 c.9157-65C>T 0.253395 0.3185 Uncertain 9_99614104_G->A 9 99614104 99614104 G A snp 1237.77 1/1 90 43 0 43 1.0 intronic rs10124033 ZNF782 AU NM_001001662 exon4 c.34024-124G>A 0.2502 0.3194 Uncertain 9_99614136_-->G 9 99614136 99614136 - G indel 3006.73 1/1 99 67 0 67 1.0 intronic rs151257454 ZNF782 AU NM_001001662 exon4 c.34024-92insG 0.128994 0.1101 0.091294 Uncertain 9_99637754_A->G 9 99637754 99637754 A G snp 3342.77 1/1 99 122 0 122 1.0 intergenic rs73654627 LOC100132781 AU 0.107228 0.1111 0.0382 0.1429 0.000 P -0.974 T Uncertain 9_99691351_T->G 9 99691351 99691351 T G snp 971.77 1/1 47 46 1 45 0.98 intronic rs2479277 NUTM2G AU NM_001170741 exon1 c.16+29T>G 0.0163 0.0938 Uncertain 9_99694363_C->T 9 99694363 99694363 C T snp 156.77 0/1 99 30 15 15 0.5 exonic rs200656234 NUTM2G AU nonsynonymous SNV NM_001045477 exon2 c.C376T p.L126F 0.0956 0.1694 1 T 1 N -0.988 T 0.002 T 0.004 T Pathogenic 9_99694397_C->G 9 99694397 99694397 C G snp 929.77 1/1 72 50 0 50 1.0 exonic rs199759392 NUTM2G AU nonsynonymous SNV NM_001045477 exon2 c.C410G p.S137C 0.1308 0.4194 0.01 T 0.0 P -0.979 T 0.547 P 0.346 P Pathogenic 9_99700727_T->A 9 99700727 99700727 T A snp 1257.77 0/1 99 142 72 70 0.49 exonic rs202223602 NUTM2G AU nonsynonymous SNV NM_001170741 exon7 c.T1522A p.S508T 0.0449 0.2804 0.02 T 0.0 P -0.940 T Pathogenic 9_99700909_C->T 9 99700909 99700909 C T snp 723.77 1/1 69 54 0 54 1.0 exonic rs201491123 NUTM2G AU synonymous SNV NM_001170741 exon7 c.C1704T p.D568D 0.0297524 0.0536 0.0001 0.0009 Uncertain 9_99700915_C->G 9 99700915 99700915 C G snp 166.77 0/1 99 48 25 23 0.48 exonic rs756169883 NUTM2G AU synonymous SNV NM_001170741 exon7 c.C1710G p.P570P 2.559e-05 0.0004 Uncertain 9_99700926_C->G 9 99700926 99700926 C G snp 93.77 0/1 99 44 23 21 0.48 exonic rs772559670 NUTM2G AU nonsynonymous SNV NM_001170741 exon7 c.C1721G p.A574G 1.716e-05 0.0001 0.42 T 1 N -0.978 T Pathogenic 9_99711193_T->C 9 99711193 99711193 T C snp 88.28 1/1 9 5 0 5 1.0 ncRNA_intronic rs7026211 HIATL2 AU 0.234225 0.3194 0.0866 0.3333 0.812 P ID=COSM4164162;OCCURENCE=1(thyroid) Uncertain 9_99711213_TAT->- 9 99711213 99711215 TAT - indel 228.87 1/1 15 5 0 5 1.0 ncRNA_intronic HIATL2 AU Uncertain 9_99711224_A->G 9 99711224 99711224 A G snp 99.28 1/1 9 3 0 3 1.0 ncRNA_intronic rs10979813 HIATL2 AU 0.0978435 0.3204 0.0185 0.2209 Uncertain 9_99721284_C->A 9 99721284 99721284 C A snp 593.77 1/1 45 17 0 17 1.0 ncRNA_intronic rs79449586 HIATL2 AU 0.0333466 0.1111 Uncertain 9_99722105_A->C 9 99722105 99722105 A C snp 33.77 0/1 62 13 8 5 0.38 ncRNA_intronic HIATL2 AU Uncertain 9_99775686_G->A 9 99775686 99775686 G A snp 56.74 1/1 6 2 0 2 1.0 ncRNA_exonic rs186587390 HIATL2 AU 0.096845 0.3185 0 . Uncertain 9_99797760_A->G 9 99797760 99797760 A G snp 2634.77 1/1 99 93 0 93 1.0 intronic rs7875800 CTSV AU NM_001333 exon3 c.2579-49A>G 0.370807 0.5387 0.270567 0.2300 0.5361 Uncertain 9_99799056_A->C 9 99799056 99799056 A C snp 337.78 1/1 27 9 0 9 1.0 intronic rs10980241 CTSV AU NM_001333 exon4 c.3799+27A>C 0.370607 0.5387 0.269952 0.2335 0.5417 Uncertain 9_99884531_C->T 9 99884531 99884531 C T snp 124.03 1/1 12 4 0 4 1.0 intergenic rs117913913 GAS2L1P2 AU 0.0597045 0.1389 Uncertain 9_99925034_A->T 9 99925034 99925034 A T snp 1251.77 0/1 99 100 41 59 0.59 intergenic rs12555636 GAS2L1P2 AU 0.142173 0.1518 Uncertain 9_100041610_C->G 9 100041610 100041610 C G snp 195.84 1/1 18 7 0 7 1.0 ncRNA_intronic rs2255135 LOC100499484 AU 0.862021 0.9425 Uncertain 9_100041617_C->T 9 100041617 100041617 C T snp 101.77 0/1 99 8 4 4 0.5 ncRNA_intronic rs41316960 LOC100499484 AU 0.230431 0.2907 Uncertain 9_100041876_A->G 9 100041876 100041876 A G snp 570.77 1/1 42 23 0 23 1.0 ncRNA_intronic rs2255139 LOC100499484 AU 0.861222 0.9425 Uncertain 9_100053193_C->G 9 100053193 100053193 C G snp 1294.77 0/1 99 108 51 57 0.53 ncRNA_intronic LOC100499484 AU Uncertain 9_100054705_T->C 9 100054705 100054705 T C snp 230.77 0/1 99 14 5 9 0.64 ncRNA_intronic rs2615143 LOC100499484 AU 0.641374 0.62 Uncertain 9_100069900_A->G 9 100069900 100069900 A G snp 1759.77 0/1 99 121 51 70 0.58 ncRNA_intronic rs3214072 LOC100499484-C9ORF174 AU 0.641973 0.624 Uncertain 9_100071728_G->A 9 100071728 100071728 G A snp 1197.77 0/1 99 128 76 52 0.41 exonic rs3747507 CCDC180 AU synonymous SNV NM_020893 exon3 c.G234A p.R78R 0.272564 0.2887 0.211441 0.2370 0.3002 Uncertain 9_100071989_T->G 9 100071989 100071989 T G snp 390.77 0/1 99 18 6 12 0.67 ncRNA_intronic rs3747506 LOC100499484-C9ORF174 AU 0.232029 0.2887 Uncertain 9_100074446_C->T 9 100074446 100074446 C T snp 1154.77 0/1 99 109 57 52 0.48 exonic rs3747504 CCDC180 AU synonymous SNV NM_020893 exon4 c.C444T p.I148I 0.275559 0.2907 0.213748 0.2398 0.2994 Uncertain 9_100075702_T->C 9 100075702 100075702 T C snp 166.77 0/1 99 14 7 7 0.5 ncRNA_intronic rs7856924 LOC100499484-C9ORF174 AU 0.638179 0.619 Uncertain 9_100087211_G->A 9 100087211 100087211 G A snp 252.77 0/1 99 18 9 9 0.5 ncRNA_intronic rs3747499 LOC100499484-C9ORF174 AU 0.230831 0.2897 Uncertain 9_100087220_A->G 9 100087220 100087220 A G snp 353.77 0/1 99 26 13 13 0.5 ncRNA_intronic rs3747498 LOC100499484-C9ORF174 AU 0.246605 0.2897 Uncertain 9_100087345_A->G 9 100087345 100087345 A G snp 1073.77 0/1 99 105 56 49 0.47 exonic rs3747496 CCDC180 AU synonymous SNV NM_020893 exon14 c.A1548G p.S516S 0.598043 0.5843 0.554667 0.5326 0.5818 0.52 T 0.0 P -1.011 T Likely benign 9_100092968_-->GAGGAG 9 100092968 100092968 - GAGGAG indel 1645.73 0/1 99 61 27 34 0.56 exonic rs113264216 CCDC180 AU nonframeshift insertion NM_020893 exon18 c.2325_2326insGAGGAG p.E775delinsEEE 0.591454 0.5813 0.5122 0.5683 ID=COSM1162573,COSM1162572;OCCURENCE=1(pancreas) Uncertain 9_100105428_G->T 9 100105428 100105428 G T snp 171.77 0/1 99 14 7 7 0.5 ncRNA_intronic rs12553213 LOC100499484-C9ORF174 AU 0.315096 0.4008 Uncertain 9_100105442_T->A 9 100105442 100105442 T A snp 338.77 0/1 99 22 9 13 0.59 ncRNA_intronic rs13286510 LOC100499484-C9ORF174 AU 0.315096 0.4008 Uncertain 9_100105735_T->C 9 100105735 100105735 T C snp 2779.77 0/1 99 236 112 124 0.53 exonic rs1947717 CCDC180 AU synonymous SNV NM_020893 exon19 c.T2520C p.C840C 0.59365 0.5843 0.551668 0.5305 0.5822 Uncertain 9_100116833_G->C 9 100116833 100116833 G C snp 1186.77 0/1 99 93 45 48 0.52 ncRNA_intronic rs10125198 LOC100499484-C9ORF174 AU 0.580272 0.5804 0.538142 0.5239 0.5831 Uncertain 9_100117342_C->G 9 100117342 100117342 C G snp 685.77 0/1 99 60 34 26 0.43 ncRNA_intronic rs2306094 LOC100499484-C9ORF174 AU 0.23143 0.2907 0.162404 0.2341 0.3142 Uncertain 9_100122291_T->C 9 100122291 100122291 T C snp 1417.77 0/1 99 115 52 63 0.55 exonic rs3747495 CCDC180 AU nonsynonymous SNV NM_020893 exon26 c.T3523C p.F1175L 0.23143 0.2907 0.169614 0.2276 0.3028 0.69 T 0.000 P -0.927 T 0.42 T 0.14 T Pathogenic 9_100124787_T->C 9 100124787 100124787 T C snp 379.77 0/1 99 20 8 12 0.6 ncRNA_intronic rs3802471 LOC100499484-C9ORF174 AU 0.553514 0.5823 Uncertain 9_100132194_C->A 9 100132194 100132194 C A snp 339.77 0/1 99 31 14 17 0.55 ncRNA_intronic rs2169456 LOC100499484-C9ORF174 AU 0.579673 0.5794 0.538444 0.5216 0.5789 Uncertain 9_100132829_T->C 9 100132829 100132829 T C snp 825.77 0/1 99 75 38 37 0.49 ncRNA_intronic rs2306090 LOC100499484-C9ORF174 AU 0.274561 0.4018 Uncertain 9_100133093_A->G 9 100133093 100133093 A G snp 337.77 0/1 99 23 11 12 0.52 ncRNA_intronic rs2306092 LOC100499484-C9ORF174 AU 0.274561 0.4018 0.185222 0.2493 0.4022 Uncertain 9_100139161_A->G 9 100139161 100139161 A G snp 236.77 0/1 99 15 5 10 0.67 exonic rs11581 CCDC180 AU synonymous SNV NM_020893 exon37 c.A5091G p.Q1697Q 0.419329 0.5248 0.305013 0.3022 0.5435 ID=COSM4163145;OCCURENCE=1(thyroid) Uncertain 9_100139182_C->T 9 100139182 100139182 C T snp 166.77 0/1 66 10 3 7 0.7 ncRNA_exonic rs898869 LOC100499484-C9ORF174 AU 0.27476 0.4018 0.185530 0.2486 0.3999 Uncertain 9_100190780_A->G 9 100190780 100190780 A G snp 508.77 0/1 99 41 20 21 0.51 exonic rs1381532 TDRD7 AU synonymous SNV NM_014290 exon2 c.A33G p.L11L 0.544928 0.5804 0.519299 0.5075 0.5583 Uncertain 9_100193001_A->G 9 100193001 100193001 A G snp 123.78 0/1 25 5 1 4 0.8 intronic rs13301794 TDRD7 AU NM_014290 exon3 c.2467-213A>G 0.510982 0.4762 Uncertain 9_100193113_T->C 9 100193113 100193113 T C snp 1270.77 0/1 99 98 46 52 0.53 intronic rs7874295 TDRD7 AU NM_014290 exon3 c.2467-101T>C 0.450679 0.4752 Uncertain 9_100194406_T->C 9 100194406 100194406 T C snp 2818.77 0/1 99 246 126 120 0.49 exonic rs2045732 TDRD7 AU nonsynonymous SNV NM_014290 exon4 c.T449C p.V150A 0.544728 0.5784 0.519145 0.5072 0.5579 0.59 T 0.000 P -0.955 T 0.01 T 0.002 T Pathogenic 9_100227423_G->A 9 100227423 100227423 G A snp 71.77 0/1 99 9 6 3 0.33 intronic rs4743099 TDRD7 AU NM_014290 exon8 c.36563+113G>A 0.454273 0.4692 Uncertain 9_100361864_C->T 9 100361864 100361864 C T snp 1415.77 0/1 99 129 67 62 0.48 intronic rs958346 TMOD1 AU NM_003275 exon10 c.75445-51C>T 0.627596 0.5139 0.687961 Uncertain 9_100366953_A->G 9 100366953 100366953 A G snp 1267.77 0/1 99 123 71 52 0.42 intronic rs2805779 TSTD2 AU NM_139246 exon2 c.2258-55A>G 0.63738 0.5179 0.6391 0.5031 Uncertain 9_100388197_C->T 9 100388197 100388197 C T snp 1452.77 0/1 99 119 58 61 0.51 exonic rs2773347 TSTD2 AU nonsynonymous SNV NM_139246 exon3 c.G248A p.R83Q 0.636981 0.5169 0.709288 0.6352 0.5013 1 T 1.000 P -0.973 T 0.002 T 0.001 T ID=COSM3763473;OCCURENCE=1(large_intestine),1(thyroid) Pathogenic 9_100433233_G->A 9 100433233 100433233 G A snp 526.77 0/1 99 40 23 17 0.42 intronic rs2805837 NCBP1 AU NM_002486 exon23 c.37204-134G>A 0.634585 0.5149 Uncertain 9_100459578_T->C 9 100459578 100459578 T C snp 503.77 0/1 99 59 35 24 0.41 UTR5 rs1800975 XPA AR 0.646366 0.5149 0.746960 0.6335 0.4981 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000170427.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 ID=CR044772;DIS=Lung adenocarcinoma, risk, association with;TAG=DP;PUB=15598786 DP Uncertain 9_100616066_G->C 9 100616066 100616066 G C snp 56.74 1/1 6 3 0 3 1.0 UTR5 rs1867280 FOXE1 AR,AD 0.686102 0.88 Uncertain 9_100616583_T->C 9 100616583 100616583 T C snp 7131.77 1/1 99 244 1 243 1.0 exonic rs3021523 FOXE1 AR,AD synonymous SNV NM_004473 exon1 c.T387C p.L129L 0.882788 0.9911 0.802709 0.8005 0.9972 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000081101.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 ID=COSM4163149;OCCURENCE=2(thyroid) Uncertain 9_100616701_GCCGCC->- 9 100616701 100616706 GCCGCC - indel 2100.73 1/1 81 68 0 68 1.0 exonic rs71369530 FOXE1 AR,AD nonframeshift deletion NM_004473 exon1 c.505_510del p.169_170del 0.0619 0.1351 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000081102.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 ID=COSM1724903;OCCURENCE=1(NS) Uncertain 9_100617021_C->T 9 100617021 100617021 C T snp 597.77 1/1 45 20 0 20 1.0 exonic rs3021526 FOXE1 AR,AD synonymous SNV NM_004473 exon1 c.C825T p.S275S 0.686102 0.88 0.6864 0.9167 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000081103.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 9_100617375_T->C 9 100617375 100617375 T C snp 2590.77 1/1 99 87 0 87 1.0 UTR3 rs7046645 FOXE1 AR,AD 0.882788 0.9911 Uncertain 9_100666931_C->T 9 100666931 100666931 C T snp 56.74 1/1 6 2 0 2 1.0 UTR3 rs6586 C9orf156 AU 0.618211 0.8185 Uncertain 9_100672338_C->T 9 100672338 100672338 C T snp 3696.77 1/1 99 129 0 129 1.0 exonic rs2282192 C9orf156 AU nonsynonymous SNV NM_016481 exon4 c.G970A p.V324M 0.589257 0.7788 0.419268 0.4181 0.8063 0.13 T 0.0 P -0.961 T 0.029 T 0.009 T Pathogenic 9_100675944_C->T 9 100675944 100675944 C T snp 176.9 1/1 15 6 0 6 1.0 intronic rs2120263 C9orf156 AU NM_016481 exon3 c.8826+104C>T 0.589657 0.7798 Uncertain 9_100675976_C->A 9 100675976 100675976 C A snp 126.03 1/1 12 4 0 4 1.0 intronic rs2120262 C9orf156 AU NM_016481 exon3 c.8826+136C>A 0.760184 0.9296 Uncertain 9_100700258_G->T 9 100700258 100700258 G T snp 80.77 0/1 99 25 19 6 0.24 intronic HEMGN AU NM_197978 exon4 c.10674-81G>T Uncertain 9_100761076_T->A 9 100761076 100761076 T A snp 191.77 0/1 89 10 4 6 0.6 intronic rs10984704 ANP32B AU NM_006401 exon3 c.15123+116T>A Uncertain 9_100761077_T->C 9 100761077 100761077 T C snp 161.77 0/1 60 8 3 5 0.63 intronic rs10984705 ANP32B AU NM_006401 exon3 c.15123+117T>C Uncertain 9_100767530_C->T 9 100767530 100767530 C T snp 447.77 0/1 99 26 11 15 0.58 intronic rs1131641 ANP32B AU NM_006401 exon4 c.21598+95C>T 0.592053 0.3234 Uncertain 9_100774646_A->T 9 100774646 100774646 A T snp 606.77 0/1 99 57 29 28 0.49 intronic rs987142 ANP32B AU NM_006401 exon6 c.28865-56A>T 0.592053 0.3234 0.591984 Uncertain 9_100819070_T->G 9 100819070 100819070 T G snp 961.77 0/1 99 102 58 44 0.43 UTR5 rs3199064 NANS AR 0.617212 0.3304 0.589520 0.5141 0.3417 Uncertain 9_100823084_T->C 9 100823084 100823084 T C snp 511.77 0/1 99 67 41 26 0.39 exonic rs13049 NANS AR synonymous SNV NM_018946 exon2 c.T153C p.A51A 0.640775 0.3323 0.624327 0.5482 0.3285 Uncertain 9_100843417_A->G 9 100843417 100843417 A G snp 877.77 0/1 99 77 40 37 0.48 intronic rs4237190 NANS AR NM_018946 exon5 c.24274+53A>G 0.653554 0.3641 0.5552 0.3742 0.0 P Uncertain 9_100854920_C->A 9 100854920 100854920 C A snp 980.77 0/1 99 73 31 42 0.58 intronic rs4743163 TRIM14 AU NM_014788 exon2 c.4532+637C>A 0.659345 0.377 Uncertain 9_100881525_C->G 9 100881525 100881525 C G snp 567.77 0/1 99 55 33 22 0.4 UTR5 rs2761063 TRIM14 AU 0.607428 0.8591 Uncertain 9_100890591_A->G 9 100890591 100890591 A G snp 1933.77 0/1 99 157 69 88 0.56 intronic rs11794723 CORO2A AU NM_003389 exon3 c.3487+49A>G 0.0603035 0.0357 0.088113 0.0989 0.0478 Uncertain 9_100895443_C->T 9 100895443 100895443 C T snp 3052.77 0/1 99 249 118 131 0.53 exonic rs735111 CORO2A AU synonymous SNV NM_003389 exon5 c.G525A p.T175T 0.0585064 0.0347 0.084807 0.0959 0.0474 Uncertain 9_100900112_C->- 9 100900112 100900112 C - indel 697.73 0/1 99 26 6 20 0.77 intronic rs34374919 CORO2A AU NM_003389 exon10 c.12915+142delC 0.0589058 0.0377 Uncertain 9_100919754_G->T 9 100919754 100919754 G T snp 1593.77 0/1 99 132 63 69 0.52 exonic rs74943592 CORO2A AU synonymous SNV NM_003389 exon2 c.C189A p.I63I 0.0081869 0.0308 0.0044 0.0425 Uncertain 9_100991430_C->A 9 100991430 100991430 C A snp 428.77 0/1 99 47 29 18 0.38 exonic rs1573025 TBC1D2 AU nonsynonymous SNV NM_001267571 exon5 c.G782T p.G261V 0.163938 0.1597 0.157927 0.1692 0.1517 0.34 T 0.757 P -0.987 T 0.959 D 0.564 D Pathogenic 9_100995721_A->G 9 100995721 100995721 A G snp 1790.77 0/1 99 178 104 74 0.42 exonic rs879369 TBC1D2 AU nonsynonymous SNV NM_001267571 exon4 c.T758C p.L253S 0.41234 0.1756 0.459019 0.3402 0.1631 0.47 T 0.0 P -0.984 T 0.004 T 0.002 T ID=COSM3982630;OCCURENCE=1(thyroid) Pathogenic 9_100995758_G->T 9 100995758 100995758 G T snp 2472.77 0/1 99 250 139 111 0.44 exonic rs879368 TBC1D2 AU nonsynonymous SNV NM_001267571 exon4 c.C721A p.P241T 0.210663 0.1627 0.234200 0.2463 0.1511 0.48 T 0.0 P -0.926 T 0.465 P 0.124 P Pathogenic 9_101006210_T->C 9 101006210 101006210 T C snp 450.77 0/1 99 29 13 16 0.55 intronic rs10818666 TBC1D2 AU NM_001267571 exon11 c.44613-65T>C 0.215455 0.1627 Uncertain 9_101006216_A->G 9 101006216 101006216 A G snp 497.77 0/1 99 35 16 19 0.54 intronic rs10818667 TBC1D2 AU NM_001267571 exon11 c.44613-59A>G 0.405551 0.1756 Uncertain 9_101006436_C->A 9 101006436 101006436 C A snp 568.77 0/1 99 72 46 26 0.36 intronic rs10818668 TBC1D2 AU NM_001267571 exon11 c.44749+25C>A 0.405551 0.1756 0.450715 0.3406 0.1677 Uncertain 9_101006443_T->C 9 101006443 101006443 T C snp 577.77 0/1 99 69 43 26 0.38 intronic rs10818669 TBC1D2 AU NM_001267571 exon11 c.44749+32T>C 0.582268 0.4524 0.612179 0.5220 0.4661 Uncertain 9_101061639_C->G 9 101061639 101061639 C G snp 1085.77 1/1 78 40 0 40 1.0 splicing rs970388 GABBR2 AU NM_005458 exon3 c.8770+4C>G 0.234625 0.3413 0.191450 0.2550 0.3520 Pathogenic 9_101065807_T->C 9 101065807 101065807 T C snp 564.77 1/1 42 19 0 19 1.0 intronic rs10985795 GABBR2 AU NM_005458 exon4 c.12840+102T>C 0.31849 0.374 Uncertain 9_101073193_T->C 9 101073193 101073193 T C snp 274.28 0/1 9 9 1 8 0.89 intronic rs76791206 GABBR2 AU NM_005458 exon6 c.20511-183T>C 0.0267572 0.0595 Uncertain 9_101168577_A->G 9 101168577 101168577 A G snp 539.77 0/1 99 34 13 21 0.62 intronic rs7020345 GABBR2 AU NM_005458 exon12 c.115558+154A>G 0.178315 0.1895 Uncertain 9_101243021_T->C 9 101243021 101243021 T C snp 422.77 0/1 99 28 14 14 0.5 intronic rs2779547 GABBR2 AU NM_005458 exon15 c.190348-192T>C 0.784145 0.8998 Uncertain 9_101243160_A->G 9 101243160 101243160 A G snp 2599.77 0/1 99 230 124 106 0.46 intronic rs76139720 GABBR2 AU NM_005458 exon15 c.190348-53A>G 0.00339457 0.0169 Uncertain 9_101243364_T->G 9 101243364 101243364 T G snp 1769.77 0/1 99 110 53 57 0.52 intronic rs2808557 GABBR2 AU NM_005458 exon15 c.190414+85T>G 0.765775 0.8998 Uncertain 9_101304348_C->T 9 101304348 101304348 C T snp 1067.77 0/1 99 103 58 45 0.44 intronic rs2184026 GABBR2 AU NM_005458 exon17 c.251460+23C>T 0.246406 0.4921 0.162156 0.2483 0.5160 CLINSIG=other;CLNDBN=Tobacco_addiction\x2c_susceptibility_to;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000003495.1;CLNDSDB=MedGen:OMIM;CLNDSDBID=C1861063:188890 Uncertain 9_101340301_A->C 9 101340301 101340301 A C snp 3276.77 0/1 99 250 107 143 0.57 exonic rs2808536 GABBR2 AU synonymous SNV NM_005458 exon2 c.T375G p.P125P 0.73103 0.3948 0.789097 0.7178 0.3921 Uncertain 9_101340425_A->G 9 101340425 101340425 A G snp 1755.77 0/1 99 131 62 69 0.53 intronic rs3750343 GABBR2 AU NM_005458 exon18 c.287489+71A>G 0.550919 0.3085 Uncertain 9_101340440_A->G 9 101340440 101340440 A G snp 1413.77 0/1 99 99 49 50 0.51 intronic rs2808537 GABBR2 AU NM_005458 exon18 c.287489+86A>G 0.695288 0.3938 Uncertain 9_101533220_C->T 9 101533220 101533220 C T snp 2546.77 1/1 99 98 0 98 1.0 exonic rs6415847 ANKS6 AR nonsynonymous SNV NM_173551 exon10 c.G1930A p.V644I 0.8752 0.7421 0.963043 0.9230 0.7081 0.27 T 0.0 P -0.951 T 0.0 T 0.001 T ID=COSM4163154;OCCURENCE=1(thyroid) Pathogenic 9_101539601_G->A 9 101539601 101539601 G A snp 188.77 0/1 99 36 26 10 0.28 intronic rs4742741 ANKS6 AR NM_173551 exon8 c.40886-85G>A 0.622804 0.3849 Uncertain 9_101539865_G->C 9 101539865 101539865 G C snp 550.77 0/1 99 51 27 24 0.47 intronic rs7035722 ANKS6 AR NM_173551 exon8 c.40936+129G>C 0.234026 0.3571 Uncertain 9_101544627_A->G 9 101544627 101544627 A G snp 501.77 0/1 99 36 16 20 0.56 intronic rs7020056 ANKS6 AR NM_173551 exon11 c.45948-121A>G 0.584265 0.381 Uncertain 9_101546578_G->C 9 101546578 101546578 G C snp 162.79 0/1 22 6 1 5 0.83 intronic rs12056975 ANKS6 AR NM_173551 exon12 c.47639+139G>C 0.275559 0.3611 Uncertain 9_101552633_G->A 9 101552633 101552633 G A snp 1720.77 0/1 99 137 67 70 0.51 exonic rs145249233 ANKS6 AR synonymous SNV NM_173551 exon2 c.C615T p.A205A 0.00658946 0.0317 0.000080 0.0036 0.0474 Uncertain 9_101552955_T->C 9 101552955 101552955 T C snp 893.77 0/1 99 91 49 42 0.46 intronic rs7027771 ANKS6 AR NM_173551 exon14 c.54088+67T>C 0.503195 0.381 Uncertain 9_101553014_G->T 9 101553014 101553014 G T snp 401.77 0/1 99 36 19 17 0.47 intronic rs7038640 ANKS6 AR NM_173551 exon14 c.54088+126G>T 0.592652 0.3968 Uncertain 9_101558444_G->A 9 101558444 101558444 G A snp 747.77 0/1 99 53 18 35 0.66 exonic rs76903503 ANKS6 AR synonymous SNV NM_173551 exon1 c.C330T p.Y110Y 0.123802 0.2262 0.2605 0.2021 Uncertain 9_101558609_G->A 9 101558609 101558609 G A snp 232.77 0/1 99 32 21 11 0.34 exonic rs138948716 ANKS6 AR synonymous SNV NM_173551 exon1 c.C165T p.A55A 0.265974 0.3601 0.6923 . ID=COSM4163156;OCCURENCE=1(thyroid) Uncertain 9_101585444_G->C 9 101585444 101585444 G C snp 1379.77 1/1 99 43 0 43 1.0 intronic rs2295922 GALNT12 AU NM_024642 exon2 c.15557-93G>C 0.882788 0.7569 Uncertain 9_101594263_C->T 9 101594263 101594263 C T snp 1161.77 0/1 99 95 43 52 0.55 intronic rs41297187 GALNT12 AU NM_024642 exon4 c.24259+24C>T 0.0373403 0.129 0.016992 0.0345 0.1413 Uncertain 9_101599558_A->T 9 101599558 101599558 A T snp 174.77 0/1 99 22 15 7 0.32 intronic rs10119864 GALNT12 AU NM_024642 exon6 c.29450+128A>T 0.369808 0.4663 Uncertain 9_101602476_G->T 9 101602476 101602476 G T snp 177.77 0/1 99 13 7 6 0.46 intronic rs3824516 GALNT12 AU NM_024642 exon7 c.32435+61G>T 0.0543131 0.1736 Uncertain 9_101606549_G->T 9 101606549 101606549 G T snp 123.77 0/1 99 19 14 5 0.26 intronic rs1885608 GALNT12 AU NM_024642 exon8 c.36511+58G>T 0.775559 0.8194 Uncertain 9_101611335_G->C 9 101611335 101611335 G C snp 2107.77 0/1 99 135 55 80 0.59 exonic rs2273846 GALNT12 AU synonymous SNV NM_024642 exon10 c.G1707C p.S569S 0.141573 0.2391 0.083192 0.0883 0.2806 ID=COSM3763482;OCCURENCE=1(large_intestine) Uncertain 9_101749477_T->G 9 101749477 101749477 T G snp 1939.77 0/1 99 155 72 83 0.54 intronic rs117306025 COL15A1 AU NM_001855 exon4 c.43232-98T>G 0.00379393 0.0169 Uncertain 9_101765841_C->T 9 101765841 101765841 C T snp 1270.77 0/1 99 106 49 57 0.54 exonic rs10988532 COL15A1 AU nonsynonymous SNV NM_001855 exon8 c.C1172T p.T391M 0.0169728 0.0804 0.000154 0.0068 0.0850 0.14 T 1 N -0.594 T 0.967 D 0.556 D Pathogenic 9_101767315_G->A 9 101767315 101767315 G A snp 584.77 0/1 99 44 21 23 0.52 exonic rs35934703 COL15A1 AU nonsynonymous SNV NM_001855 exon9 c.G1336A p.G446R 0.160144 0.2927 0.091573 0.1262 0.3102 0.32 T 0.0 P -1.064 T 0.001 T 0.0 T ID=COSM3763484;OCCURENCE=1(large_intestine) Pathogenic 9_101767382_C->T 9 101767382 101767382 C T snp 191.8 0/1 21 7 1 6 0.86 intronic rs41316954 COL15A1 AU NM_001855 exon9 c.60989+50C>T 0.221246 0.2956 0.148376 0.1438 0.3209 Uncertain 9_101767385_A->G 9 101767385 101767385 A G snp 125.78 0/1 27 5 1 4 0.8 intronic rs41305481 COL15A1 AU NM_001855 exon9 c.60989+53A>G 0.527955 0.6835 Uncertain 9_101778265_G->T 9 101778265 101778265 G T snp 1885.77 0/1 99 187 99 88 0.47 exonic rs2297603 COL15A1 AU nonsynonymous SNV NM_001855 exon11 c.G1511T p.G504V 0.0852636 0.2133 0.078579 0.1125 0.2460 0.02 T 0.0 P -0.950 T 0.01 T 0.005 T Pathogenic 9_101782535_T->C 9 101782535 101782535 T C snp 155.77 0/1 99 10 4 6 0.6 intronic rs4743310 COL15A1 AU NM_001855 exon12 c.76327-135T>C 0.164537 0.3056 Uncertain 9_101782836_A->C 9 101782836 101782836 A C snp 1228.77 0/1 99 98 48 50 0.51 intronic rs2274962 COL15A1 AU NM_001855 exon12 c.76381+112A>C 0.226438 0.3056 Uncertain 9_101784438_A->G 9 101784438 101784438 A G snp 2695.77 0/1 99 216 99 117 0.54 splicing rs3739800 COL15A1 AU NM_001855 exon13 c.78089+6A>G 0.172923 0.3046 0.104567 0.1411 0.3143 Pathogenic 9_101785435_T->C 9 101785435 101785435 T C snp 538.77 0/1 99 40 20 20 0.5 intronic rs72737281 COL15A1 AU NM_001855 exon14 c.79295-203T>C 0.183307 0.2837 Uncertain 9_101810339_T->C 9 101810339 101810339 T C snp 68.77 0/1 28 4 1 3 0.75 intronic rs869776 COL15A1 AU NM_001855 exon28 c.103939+57T>C 0.475639 0.6597 0.309242 Uncertain 9_101814626_C->G 9 101814626 101814626 C G snp 937.77 1/1 69 32 0 32 1.0 intronic rs4142986 COL15A1 AU NM_001855 exon31 c.108326-43C>G 0.848442 0.9087 0.765647 0.7478 0.9073 Uncertain 9_101818716_T->C 9 101818716 101818716 T C snp 532.77 0/1 99 29 11 18 0.62 intronic rs11788317 COL15A1 AU NM_001855 exon35 c.112343+30T>C 0.46246 0.6538 0.283680 0.3372 0.6137 Uncertain 9_101822220_C->T 9 101822220 101822220 C T snp 743.77 0/1 99 77 48 29 0.38 exonic rs4480177 COL15A1 AU synonymous SNV NM_001855 exon36 c.C3387T p.P1129P 0.385383 0.5268 0.263340 0.2847 0.4948 ID=COSM3763486;OCCURENCE=1(large_intestine) Uncertain 9_101822302_C->T 9 101822302 101822302 C T snp 395.77 0/1 99 46 26 20 0.43 intronic rs7031588 COL15A1 AU NM_001855 exon36 c.115892+67C>T 0.390176 0.5714 0.260184 Uncertain 9_101822400_A->G 9 101822400 101822400 A G snp 136.77 0/1 99 11 6 5 0.45 intronic rs7047475 COL15A1 AU NM_001855 exon36 c.115892+165A>G 0.405351 0.6349 Uncertain 9_101822422_G->A 9 101822422 101822422 G A snp 37.77 0/1 66 6 4 2 0.33 intronic rs34111295 COL15A1 AU NM_001855 exon36 c.115892+187G>A 0.405551 0.6349 Uncertain 9_101831113_G->A 9 101831113 101831113 G A snp 324.77 0/1 99 24 12 12 0.5 intronic rs4742758 COL15A1 AU NM_001855 exon41 c.124609+161G>A 0.373802 0.626 Uncertain 9_101831779_G->A 9 101831779 101831779 G A snp 37.77 0/1 66 6 4 2 0.33 intronic rs34863444 COL15A1 AU NM_001855 exon42 c.125611-175G>A 0.432308 0.626 Uncertain 9_101831995_G->A 9 101831995 101831995 G A snp 2934.77 0/1 99 250 125 125 0.5 exonic rs10519 COL15A1 AU nonsynonymous SNV NM_001855 exon42 c.G3994A p.V1332I 0.182508 0.2758 0.122482 0.1117 0.2477 0.81 T 0.0 P -0.991 T 0.002 T 0.002 T ID=CM137968;DIS=Phenotype modifier, early-onset glaucoma;TAG=DP;PUB=23621901 DP Pathogenic 9_101832264_T->G 9 101832264 101832264 T G snp 33.77 0/1 62 7 5 2 0.29 UTR3 rs80251849 COL15A1 AU Uncertain 9_101890227_C->T 9 101890227 101890227 C T snp 1462.77 0/1 99 139 79 60 0.43 intronic rs11568753 TGFBR1 AD NM_004612 exon2 c.23649-909C>T 0.124002 0.4028 0.076 0.4167 Uncertain 9_101890980_A->G 9 101890980 101890980 A G snp 583.77 0/1 99 62 38 24 0.39 intronic rs7041311 TGFBR1 AD NM_004612 exon2 c.23649-156A>G 0.148163 0.4087 0.1186 0.5706 Uncertain 9_101900410_A->G 9 101900410 101900410 A G snp 362.77 0/1 99 41 24 17 0.41 intronic rs11568778 TGFBR1 AD NM_004612 exon4 c.32884+39A>G 0.125599 0.4097 0.003152 0.0617 0.4275 Uncertain 9_101908915_G->A 9 101908915 101908915 G A snp 2396.77 0/1 99 238 133 105 0.44 intronic rs334354 TGFBR1 AD NM_004612 exon7 c.41404+24G>A 0.269968 0.4296 0.217746 0.2194 0.4394 ID=CS045221;DIS=Cancer, risk, association with;TAG=DP;PUB=15382067 DP Uncertain 9_101984093_G->C 9 101984093 101984093 G C snp 1239.77 0/1 99 103 53 50 0.49 exonic rs61744789 ALG2 AR synonymous SNV NM_033087 exon1 c.C84G p.G28G 0.0179712 0.0774 0.000550 0.0078 0.0590 Uncertain 9_102067317_T->G 9 102067317 102067317 T G snp 556.77 1/1 42 15 0 15 1.0 intergenic rs790288 SEC61B AU 0.92472 1 Uncertain 9_102068344_C->G 9 102068344 102068344 C G snp 399.77 1/1 30 13 0 13 1.0 intergenic rs790287 SEC61B AU 0.922923 1 0.9596 1 1 T 0.0 P -0.946 T Uncertain 9_102068832_G->A 9 102068832 102068832 G A snp 1022.77 1/1 72 40 0 40 1.0 intergenic rs170462 SEC61B AU 0.921126 1 0.9640 0.9999 1 T 0.000 P -0.951 T Uncertain 9_102068912_C->T 9 102068912 102068912 C T snp 586.77 0/1 33 31 3 28 0.9 intergenic rs182704 SEC61B AU 0.625399 0.8214 0.6950 0.8397 Uncertain 9_102625834_T->C 9 102625834 102625834 T C snp 447.77 0/1 99 56 38 18 0.32 intronic rs7032301 NR4A3 AU NM_173200 exon9 c.36849-67T>C 0.346845 0.3393 Uncertain 9_102678486_T->G 9 102678486 102678486 T G snp 46.77 0/1 33 3 1 2 0.67 intronic STX17 AU NM_017919 exon2 c.123+842T>G Uncertain 9_102713580_G->A 9 102713580 102713580 G A snp 2709.77 0/1 99 249 137 112 0.45 intronic rs1997368 STX17 AU NM_017919 exon4 c.36046+13G>A 0.671526 0.7371 0.702861 0.6735 0.7131 Uncertain 9_102713591_T->C 9 102713591 102713591 T C snp 2730.77 0/1 99 247 133 114 0.46 intronic rs3739794 STX17 AU NM_017919 exon4 c.36046+24T>C 0.453275 0.7202 0.358582 0.3936 0.7074 Uncertain 9_102780721_T->C 9 102780721 102780721 T C snp 454.77 1/1 36 13 0 13 1.0 intronic rs4743375 ERP44 AU NM_015051 exon6 c.35702+126T>C 0.767971 0.87 Uncertain 9_102783113_T->C 9 102783113 102783113 T C snp 678.77 0/1 99 50 20 30 0.6 intronic rs3739795 ERP44 AU NM_015051 exon7 c.38120+100T>C 0.275559 0.6161 Uncertain 9_102814584_T->C 9 102814584 102814584 T C snp 197.77 0/1 99 17 9 8 0.47 intronic rs142196157 ERP44 AU NM_015051 exon9 c.69805-114T>C 0.00179712 0.0089 Uncertain 9_102814960_A->G 9 102814960 102814960 A G snp 96.28 1/1 9 3 0 3 1.0 intronic rs7032333 ERP44 AU NM_015051 exon9 c.69921+146A>G 0.769569 0.87 Uncertain 9_102820002_T->C 9 102820002 102820002 T C snp 1678.77 1/1 99 63 0 63 1.0 intronic rs942163 ERP44 AU NM_015051 exon10 c.75208-99T>C 0.580871 0.8671 Uncertain 9_102860928_G->A 9 102860928 102860928 G A snp 3904.77 1/1 99 139 0 139 1.0 intronic rs6479001 ERP44 AU NM_015051 exon12 c.116172-137G>A 0.769768 0.87 Uncertain 9_103059476_A->G 9 103059476 103059476 A G snp 730.77 1/1 54 21 0 21 1.0 intronic rs7864494 INVS AR NM_183245 exon16 c.192625+48A>G 0.757987 0.8562 0.649538 0.6803 0.8991 Uncertain 9_103060386_T->G 9 103060386 103060386 T G snp 3963.77 1/1 99 133 0 133 1.0 intronic rs3813712 INVS AR NM_183245 exon17 c.193489+94T>G 0.792532 0.8552 0.7277 0.9043 0.0 P -1.038 T 0.0 T 0.0 T Uncertain 9_103064530_G->A 9 103064530 103064530 G A snp 2803.77 1/1 99 110 0 110 1.0 exonic rs7472 TEX10 AU synonymous SNV NM_001161584 exon15 c.C2685T p.F895F 0.626997 0.8542 0.423958 0.4853 0.8990 Uncertain 9_103065884_C->T 9 103065884 103065884 C T snp 4217.77 1/1 99 148 0 148 1.0 intronic rs3923501 TEX10 AU NM_017746 exon2 c.1441-29C>T 0.710264 0.8552 0.567123 0.5997 0.8991 Uncertain 9_103091630_A->G 9 103091630 103091630 A G snp 1904.77 1/1 99 70 0 70 1.0 intronic rs10819759 TEX10 AU NM_017746 exon9 c.27085+73A>G 0.620208 0.8542 Uncertain 9_103092512_AT->- 9 103092512 103092513 AT - indel 733.73 0/1 99 59 34 25 0.42 intronic rs374149232 TEX10 AU NM_017746 exon10 c.27979+61_27979+62delAT 0.00519169 0.0208 Uncertain 9_103108941_C->G 9 103108941 103108941 C G snp 6090.77 1/1 99 209 0 209 1.0 intronic rs2151131 TEX10 AU NM_017746 exon13 c.44503-34C>G 0.897564 0.8681 0.857758 0.8418 0.9028 Uncertain 9_103111705_T->G 9 103111705 103111705 T G snp 54.74 1/1 6 2 0 2 1.0 intronic rs914711 TEX10 AU NM_017746 exon14 c.47182+51T>G 0.751198 0.8552 Uncertain 9_103114793_G->C 9 103114793 103114793 G C snp 5619.77 1/1 99 198 1 197 0.99 UTR5 rs1930244 TEX10 AU 0.897165 0.8681 0.851073 Uncertain 9_103114858_C->G 9 103114858 103114858 C G snp 851.77 0/1 99 63 33 30 0.48 intronic rs536753980 TEX10 AU NM_001161584 exon15 c.50381+5C>G 0.000199681 0.001 Uncertain 9_103235790_G->A 9 103235790 103235790 G A snp 421.77 0/1 99 29 12 17 0.59 UTR5 rs139746224 TMEFF1 AU 0.120008 0.2063 0.3125 0.375 Uncertain 9_103261227_A->G 9 103261227 103261227 A G snp 194.77 0/1 99 12 5 7 0.58 intronic rs2274881 MSANTD3-TMEFF1 AU NM_001198812 exon2 c.56936+71A>G 0.120208 0.2063 Uncertain 9_103312290_C->A 9 103312290 103312290 C A snp 893.77 0/1 99 48 18 30 0.63 intronic rs2274882 MSANTD3-TMEFF1 AU NM_001198812 exon7 c.108156-86C>A 0.23123 0.2034 Uncertain 9_103348208_A->T 9 103348208 103348208 A T snp 2428.77 0/1 99 187 89 98 0.52 exonic rs28623148 MURC AU synonymous SNV NM_001018116 exon2 c.A570T p.S190S 0.117812 0.2232 0.033677 0.0640 0.2183 Uncertain 9_104075427_T->C 9 104075427 104075427 T C snp 303.78 1/1 24 9 0 9 1.0 intronic rs2275683 LPPR1 AU NM_017753 exon6 c.127480+171T>C 0.440296 0.2312 Uncertain 9_104124664_C->T 9 104124664 104124664 C T snp 463.77 0/1 99 39 24 15 0.38 UTR3 rs2229594 BAAT AU 0.714058 0.6736 0.797939 0.7886 0.6543 Uncertain 9_104133628_C->T 9 104133628 104133628 C T snp 811.77 0/1 99 72 35 37 0.51 exonic rs1572983 BAAT AU nonsynonymous SNV NM_001701 exon2 c.G59A p.R20Q 0.562899 0.63 0.631401 0.6461 0.6056 0.34 T 0.0 P -0.976 T 0.048 T 0.036 T Pathogenic 9_104153155_G->C 9 104153155 104153155 G C snp 1062.77 0/1 99 63 22 41 0.65 intronic rs10989486 MRPL50 AU NM_019051 exon1 c.385+23G>C 0.456869 0.3611 0.402415 0.3588 0.3934 Uncertain 9_104184022_G->A 9 104184022 104184022 G A snp 422.77 0/1 99 34 17 17 0.5 UTR3 rs4577 ALDOB AR 0.441893 0.3998 0.4466 0.4425 Uncertain 9_104187400_A->G 9 104187400 104187400 A G snp 442.77 0/1 99 31 13 18 0.58 intronic rs506571 ALDOB AR NM_000035 exon2 c.3234+76A>G 0.45008 0.4018 Uncertain 9_104238142_A->C 9 104238142 104238142 A C snp 3003.77 0/1 99 204 85 119 0.58 ncRNA_intronic rs15889 TMEM246-AS1 AU 0.322684 0.3998 0.233892 0.2472 0.3924 Uncertain 9_104297693_T->A 9 104297693 104297693 T A snp 802.77 0/1 99 80 48 32 0.4 UTR5 rs7872953 RNF20 AU 0.0577077 0.0704 0.045210 0.0650 0.0686 Uncertain 9_104302625_A->G 9 104302625 104302625 A G snp 2985.77 0/1 99 244 124 120 0.49 exonic rs16920477 RNF20 AU synonymous SNV NM_019592 exon3 c.A270G p.L90L 0.0591054 0.0704 0.050208 0.0709 0.0685 Uncertain 9_104306989_A->- 9 104306989 104306989 A - indel 82.73 0/1 77 13 6 7 0.54 intronic rs145182555 RNF20 AU NM_019592 exon6 c.9343-59delA Uncertain 9_104324545_G->A 9 104324545 104324545 G A snp 2090.77 0/1 99 147 66 81 0.55 exonic rs10521057 RNF20 AU synonymous SNV NM_019592 exon20 c.G2769A p.P923P 0.185304 0.3562 0.135476 0.1891 0.3581 Uncertain 9_104432293_C->T 9 104432293 104432293 C T snp 698.77 0/1 99 46 22 24 0.52 intronic rs1323434 GRIN3A AU NM_133445 exon7 c.96886-48C>T 0.267372 0.2173 0.333615 0.3624 0.2080 Uncertain 9_104432873_T->G 9 104432873 104432873 T G snp 2635.77 0/1 99 250 142 108 0.43 exonic rs942142 GRIN3A AU synonymous SNV NM_133445 exon3 c.A1821C p.A607A 0.267372 0.2183 0.333615 0.3610 0.2051 Uncertain 9_104433034_A->G 9 104433034 104433034 A G snp 2886.77 0/1 99 224 109 115 0.51 exonic rs10512285 GRIN3A AU synonymous SNV NM_133445 exon3 c.T1660C p.L554L 0.267572 0.2173 0.333692 0.3611 0.2050 Uncertain 9_104433235_C->T 9 104433235 104433235 C T snp 2403.77 0/1 99 232 126 106 0.46 exonic rs10989589 GRIN3A AU nonsynonymous SNV NM_133445 exon3 c.G1459A p.G487R 0.265375 0.2262 0.329848 0.3597 0.2043 0.1 T 1.000 P -0.854 T 0.956 T 0.799 D Pathogenic 9_104433347_G->A 9 104433347 104433347 G A snp 2002.77 0/1 99 209 121 88 0.42 exonic rs13284303 GRIN3A AU synonymous SNV NM_133445 exon3 c.C1347T p.I449I 0.122804 0.1716 0.123558 0.1538 0.1637 Uncertain 9_104433436_T->A 9 104433436 104433436 T A snp 934.77 0/1 99 80 42 38 0.47 intronic rs1885980 GRIN3A AU NM_133445 exon7 c.97934+47T>A 0.267173 0.2173 0.332590 0.3611 0.2041 Uncertain 9_104449017_C->T 9 104449017 104449017 C T snp 1622.77 0/1 99 123 57 66 0.54 exonic rs200120504 GRIN3A AU nonsynonymous SNV NM_133445 exon2 c.G1165A p.V389I 0.0002 0.0007 0.87 T 1.000 D -0.335 T 0.087 T 0.036 T ID=COSM1459003;OCCURENCE=1(large_intestine) Pathogenic 9_104449063_C->T 9 104449063 104449063 C T snp 1327.77 0/1 99 104 51 53 0.51 exonic rs2506354 GRIN3A AU synonymous SNV NM_133445 exon2 c.G1119A p.G373G 0.71865 0.4315 0.799938 0.7538 0.4262 Uncertain 9_104449294_G->A 9 104449294 104449294 G A snp 2458.77 0/1 99 171 74 97 0.57 exonic rs33945236 GRIN3A AU synonymous SNV NM_133445 exon2 c.C888T p.N296N 0.122604 0.1716 0.123943 0.1546 0.1665 Uncertain 9_104499575_T->C 9 104499575 104499575 T C snp 7044.77 1/1 99 250 0 250 1.0 exonic rs1337677 GRIN3A AU synonymous SNV NM_133445 exon1 c.A687G p.P229P 0.827276 0.5635 0.917269 0.9035 0.5462 Uncertain 9_105405415_G->A 9 105405415 105405415 G A snp 3062.77 1/1 99 121 0 121 1.0 ncRNA_exonic rs10820216 LINC00587 AU 0.32508 0.5139 0.3297 0.5105 0 D -0.906 T Uncertain 9_105405434_T->C 9 105405434 105405434 T C snp 2410.77 1/1 99 90 0 90 1.0 ncRNA_exonic rs10990214 LINC00587 AU 0.136781 0.376 0.1246 0.3856 0 D -0.967 T Uncertain 9_105757558_A->G 9 105757558 105757558 A G snp 2904.77 1/1 99 113 0 113 1.0 upstream rs10739861 CYLC2 AU 0.850639 0.999 Uncertain 9_105757756_A->G 9 105757756 105757756 A G snp 640.77 1/1 48 20 0 20 1.0 intronic rs1341205 CYLC2 AU NM_001340 exon1 c.17+77A>G 0.983027 1 0.953947 Uncertain 9_105763912_T->C 9 105763912 105763912 T C snp 621.77 0/1 99 52 24 28 0.54 intronic rs10820335 CYLC2 AU NM_001340 exon2 c.6238+12T>C 0.15595 0.1032 0.203549 0.2395 0.1059 Uncertain 9_105764116_T->C 9 105764116 105764116 T C snp 99.28 1/1 9 3 0 3 1.0 intronic rs10760932 CYLC2 AU NM_001340 exon2 c.6238+216T>C 0.395367 0.4187 Uncertain 9_105765610_T->C 9 105765610 105765610 T C snp 764.77 1/1 57 23 0 23 1.0 intronic rs2066261 CYLC2 AU NM_001340 exon3 c.7883+65T>C 0.854633 0.999 Uncertain 9_106901704_T->G 9 106901704 106901704 T G snp 80.77 0/1 99 6 3 3 0.5 UTR3 rs533799568 SMC2 AU 0.000399361 0.001 Uncertain 9_107266596_T->C 9 107266596 107266596 T C snp 2158.77 0/1 99 159 72 87 0.55 exonic rs7049042 OR13F1 AU nonsynonymous SNV NM_001004485 exon1 c.T53C p.F18S 0.783546 0.7827 0.771567 0.7411 0.7828 1 T 0.000 P -1.054 T 0.0 T 0.0 T Pathogenic 9_107266626_T->C 9 107266626 107266626 T C snp 2413.77 0/1 99 182 83 99 0.54 exonic rs79836745 OR13F1 AU nonsynonymous SNV NM_001004485 exon1 c.T83C p.F28S 0.00319489 0.0149 0.000231 0.0010 0.0094 0.03 T 0.997 D -1.203 T 1.0 D 0.999 D Pathogenic 9_107266774_C->G 9 107266774 107266774 C G snp 2371.77 0/1 99 201 106 95 0.47 exonic rs1949755 OR13F1 AU synonymous SNV NM_001004485 exon1 c.C231G p.A77A 0.783347 0.7827 0.771567 0.7407 0.7824 Uncertain 9_107266844_A->G 9 107266844 107266844 A G snp 2231.77 0/1 99 152 61 91 0.6 exonic rs1403812 OR13F1 AU nonsynonymous SNV NM_001004485 exon1 c.A301G p.M101V 0.783946 0.7827 0.771567 0.7407 0.7827 0.04 T 0.005 P -1.052 T 0.079 T 0.034 T Pathogenic 9_107266943_G->A 9 107266943 107266943 G A snp 2101.77 0/1 99 117 38 79 0.68 exonic rs1403811 OR13F1 AU nonsynonymous SNV NM_001004485 exon1 c.G400A p.V134I 0.782748 0.7817 0.771644 0.7404 0.7823 0.5 T 0.0 P -0.984 T 0.0 T 0.001 T Pathogenic 9_107331504_C->A 9 107331504 107331504 C A snp 6548.77 1/1 99 220 0 220 1.0 exonic rs7026705 OR13C8 AU nonsynonymous SNV NM_001004483 exon1 c.C56A p.A19D 0.645567 0.9464 0.489928 0.5258 0.9604 1 T 0.000 P -0.963 T 0.002 T 0.003 T Pathogenic 9_107360769_T->- 9 107360769 107360769 T - indel 2938.73 1/1 99 66 0 66 1.0 exonic rs11314210 OR13C5 AU frameshift deletion NM_001004482 exon1 c.926delA p.H309fs 0.436102 0.5754 0.327396 0.2936 0.5874 Pathogenic 9_107360826_A->G 9 107360826 107360826 A G snp 3950.77 1/1 99 138 0 138 1.0 exonic rs1851725 OR13C5 AU nonsynonymous SNV NM_001004482 exon1 c.T869C p.M290T 0.436102 0.5754 0.326465 0.2879 0.5886 0.12 T 0.000 P -0.982 T 0.021 T 0.03 T Pathogenic 9_107360851_T->C 9 107360851 107360851 T C snp 4417.77 1/1 99 159 0 159 1.0 exonic rs1523678 OR13C5 AU nonsynonymous SNV NM_001004482 exon1 c.A844G p.I282V 0.436102 0.5754 0.326465 0.2879 0.5901 0.08 T 0.0 P -0.956 T 0.0 T 0.001 T Pathogenic 9_107360922_A->G 9 107360922 107360922 A G snp 5727.77 1/1 99 207 0 207 1.0 exonic rs1851724 OR13C5 AU nonsynonymous SNV NM_001004482 exon1 c.T773C p.M258T 0.676917 0.9573 0.523835 0.5362 0.9660 0.08 T 0.001 P -0.903 T 0.68 T 0.479 P Pathogenic 9_107361111_T->C 9 107361111 107361111 T C snp 3679.77 0/1 99 250 127 123 0.49 exonic rs6479259 OR13C5 AU nonsynonymous SNV NM_001004482 exon1 c.A584G p.N195S 0.133586 0.0704 0.104875 0.0483 0.0846 0.03 T 0.0 P -0.939 T 0.985 D 0.913 D Pathogenic 9_107361129_C->T 9 107361129 107361129 C T snp 7030.77 1/1 99 250 24 226 0.9 exonic rs4117966 OR13C5 AU nonsynonymous SNV NM_001004482 exon1 c.G566A p.C189Y 0.363419 0.5645 0.248116 0.2652 0.5836 0 D 0.927 P -1.052 T 1.0 D 1.0 D Pathogenic 9_107361346_C->T 9 107361346 107361346 C T snp 3796.77 1/1 99 230 0 230 1.0 exonic rs2417534 OR13C5 AU nonsynonymous SNV NM_001004482 exon1 c.G349A p.V117M 0.136203 0.1749 0.4282 0.56 T 0.0 P -1.022 T 0.003 T 0.002 T ID=COSM3982655;OCCURENCE=1(thyroid) Pathogenic 9_107361439_G->C 9 107361439 107361439 G C snp 2603.77 1/1 99 181 7 174 0.96 exonic rs4629933 OR13C5 AU nonsynonymous SNV NM_001004482 exon1 c.C256G p.L86V 0.676717 0.9573 0.4776 0.8616 0.25 T 0.0 P -0.902 T 0.948 T 0.391 D ID=COSM4163181;OCCURENCE=1(thyroid) Pathogenic 9_107361449_T->C 9 107361449 107361449 T C snp 2428.77 1/1 99 161 7 154 0.96 exonic rs146576115 OR13C5 AU synonymous SNV NM_001004482 exon1 c.A246G p.L82L 0.680312 0.9573 0.4485 0.8483 ID=COSM4007006;OCCURENCE=2(urinary_tract) Uncertain 9_107361451_G->A 9 107361451 107361451 G A snp 2485.77 1/1 99 153 0 153 1.0 exonic rs201540433 OR13C5 AU synonymous SNV NM_001004482 exon1 c.C244T p.L82L 0.680312 0.9573 0.4357 0.8481 ID=COSM4007007;OCCURENCE=1(urinary_tract),1(thyroid) Uncertain 9_107361452_C->G 9 107361452 107361452 C G snp 2511.77 1/1 99 153 0 153 1.0 exonic rs199665292 OR13C5 AU synonymous SNV NM_001004482 exon1 c.G243C p.T81T 0.27496 0.4504 0.4355 0.8468 ID=COSM4163182;OCCURENCE=1(thyroid) Uncertain 9_107361460_G->A 9 107361460 107361460 G A snp 2373.77 1/1 99 170 13 157 0.92 exonic rs116283639 OR13C5 AU nonsynonymous SNV NM_001004482 exon1 c.C235T p.P79S 0.4146 0.8460 0.01 T 0.0 P -0.874 T 0.987 D 0.931 D ID=COSM4163183;OCCURENCE=1(thyroid) Pathogenic 9_107361490_A->T 9 107361490 107361490 A T snp 2318.77 1/1 99 149 18 131 0.88 exonic rs57169158 OR13C5 AU nonsynonymous SNV NM_001004482 exon1 c.T205A p.L69M 0.663938 0.9306 0.4799 0.9353 0.05 T 0.0 P -0.976 T 0.995 D 0.817 D ID=COSM4163184;OCCURENCE=1(thyroid) Pathogenic 9_107361599_G->C 9 107361599 107361599 G C snp 3446.77 1/1 99 206 29 177 0.86 exonic rs6479260 OR13C5 AU nonsynonymous SNV NM_001004482 exon1 c.C96G p.F32L 0.424321 0.5724 0.2831 0.5899 1 T 0.0 P -0.943 T 0.0 T 0.0 T ID=COSM3847245;OCCURENCE=1(breast) Pathogenic 9_107361710_G->A 9 107361710 107361710 G A snp 4437.77 1/1 99 165 1 164 0.99 upstream rs7856737 OR13C5 AU 0.436502 0.5774 0.326003 0.2921 0.5911 Uncertain 9_107366884_C->G 9 107366884 107366884 C G snp 3601.77 1/1 99 119 0 119 1.0 downstream rs7856643 OR13C2 AU 0.370807 0.5595 Uncertain 9_107367008_T->C 9 107367008 107367008 T C snp 7341.77 1/1 99 250 0 250 1.0 exonic rs10156474 OR13C2 AU nonsynonymous SNV NM_001004481 exon1 c.A901G p.K301E 0.430312 0.5774 0.321181 0.2875 0.5910 0 D 0.033 P -0.904 T 0.693 T 0.275 P Pathogenic 9_107367393_GTTA->- 9 107367393 107367396 GTTA - indel 14431.7 1/1 99 199 0 199 1.0 exonic rs143198170 OR13C2 AU frameshift deletion NM_001004481 exon1 c.513_516del p.N171fs 0.373003 0.5665 0.256314 0.2651 0.5744 Pathogenic 9_107367431_A->T 9 107367431 107367431 A T snp 5859.77 1/1 99 250 2 248 0.99 exonic rs1851716 OR13C2 AU nonsynonymous SNV NM_001004481 exon1 c.T478A p.S160T 0.2814 0.5766 1 T 0.0 P -1.032 T 0.0 T 0.001 T ID=COSM3982658;OCCURENCE=1(thyroid) Pathogenic 9_107367612_C->T 9 107367612 107367612 C T snp 4861.77 1/1 99 250 61 189 0.76 exonic rs1851715 OR13C2 AU synonymous SNV NM_001004481 exon1 c.G297A p.V99V 0.370008 0.5129 0.293711 0.2408 0.4376 Uncertain 9_107367665_GC->- 9 107367665 107367666 GC - indel 8662.73 1/1 99 171 0 171 1.0 exonic rs143760725 OR13C2 AU frameshift deletion NM_001004481 exon1 c.243_244del p.T81fs 0.314297 0.4097 0.316603 0.2845 0.5845 Pathogenic 9_107367841_A->T 9 107367841 107367841 A T snp 2894.77 1/1 99 167 34 133 0.8 exonic rs10991326 OR13C2 AU nonsynonymous SNV NM_001004481 exon1 c.T68A p.L23H 0.373003 0.5645 0.2710 0.5849 0 D 0.0 P -0.973 T 0.999 D 0.91 D Pathogenic 9_107380122_G->A 9 107380122 107380122 G A snp 3062.77 0/1 99 250 127 123 0.49 exonic rs77624771 OR13C9 AU nonsynonymous SNV NM_001001956 exon1 c.C364T p.R122C 0.0199681 0.020612 0.0063 0.0035 0 D 0.892 D -0.735 T 0.678 T 0.155 P Pathogenic 9_107380177_A->G 9 107380177 107380177 A G snp 7479.77 1/1 99 250 0 250 1.0 exonic rs1813819 OR13C9 AU synonymous SNV NM_001001956 exon1 c.T309C p.L103L 0.430312 0.5754 0.303629 0.2841 0.5872 Uncertain 9_107380215_T->A 9 107380215 107380215 T A snp 6802.77 1/1 99 246 2 244 0.99 exonic rs993658 OR13C9 AU nonsynonymous SNV NM_001001956 exon1 c.A271T p.T91S 0.35004 0.5645 0.231893 0.2601 0.5831 0.24 T 0.000 P -1.068 T 0.001 T 0.005 T Pathogenic 9_107380414_C->A 9 107380414 107380414 C A snp 2590.77 1/1 99 96 0 96 1.0 exonic rs2900373 OR13C9 AU nonsynonymous SNV NM_001001956 exon1 c.G72T p.E24D 0.426917 0.5754 0.313932 0.2844 0.5902 0 D 0.000 P -1.061 T 0.229 T 0.062 T Pathogenic 9_107380571_A->G 9 107380571 107380571 A G snp 384.77 1/1 30 13 0 13 1.0 upstream rs4743728 OR13C9 AU 0.426917 0.5754 Uncertain 9_107456933_C->T 9 107456933 107456933 C T snp 1877.77 0/1 99 163 87 76 0.47 exonic rs12347076 OR13D1 AU synonymous SNV NM_001004484 exon1 c.C231T p.L77L 0.270367 0.4821 0.200907 0.2378 0.4713 Uncertain 9_107457275_A->C 9 107457275 107457275 A C snp 659.77 0/1 99 64 35 29 0.45 exonic rs10820709 OR13D1 AU nonsynonymous SNV NM_001004484 exon1 c.A573C p.Q191H 0.487021 0.505 0.414424 0.3842 0.5235 0.21 T 0.0 P -0.957 T 0.052 T 0.084 T Pathogenic 9_107457332_C->T 9 107457332 107457332 C T snp 1060.77 0/1 99 86 45 41 0.48 exonic rs61742675 OR13D1 AU synonymous SNV NM_001004484 exon1 c.C630T p.T210T 0.118011 0.0546 0.085345 0.0425 0.0684 Uncertain 9_107457532_C->T 9 107457532 107457532 C T snp 6904.77 1/1 99 250 0 250 1.0 exonic rs10761073 OR13D1 AU nonsynonymous SNV NM_001004484 exon1 c.C830T p.S277L 0.765775 0.9901 0.617254 0.6243 0.9958 1 T 0.0 P -0.920 T 0.003 T 0.0 T Pathogenic 9_107457725_G->A 9 107457725 107457725 G A snp 575.77 0/1 99 43 23 20 0.47 exonic rs12338899 OR13D1 AU synonymous SNV NM_001004484 exon1 c.G1023A p.L341L 0.270168 0.4821 0.200907 0.2412 0.4722 Uncertain 9_107510145_G->C 9 107510145 107510145 G C snp 1499.77 1/1 99 59 0 59 1.0 intronic rs3753024 NIPSNAP3A AU NM_015469 exon1 c.60+12G>C 0.559704 0.5655 0.590123 0.6150 0.5650 Uncertain 9_107510179_GGGGC->- 9 107510179 107510183 GGGGC - indel 3687.73 1/1 99 54 0 54 1.0 intronic rs147856422 NIPSNAP3A AU NM_015469 exon1 c.60+46_60+50delGGGGC 0.833466 0.8085 0.818855 0.8009 0.8144 Uncertain 9_107515214_G->A 9 107515214 107515214 G A snp 927.77 0/1 99 70 33 37 0.53 exonic rs2274870 NIPSNAP3A AU nonsynonymous SNV NM_015469 exon3 c.G299A p.R100Q 0.63758 0.5228 0.675688 0.6180 0.5539 0.1 T 0.929 P -0.945 T 0.95 T 0.675 D Pathogenic 9_107517006_A->C 9 107517006 107517006 A C snp 626.77 0/1 99 42 15 27 0.64 intronic rs28663024 NIPSNAP3A AU NM_015469 exon4 c.6908+25A>C 0.0652955 0.2212 0.015608 0.0281 0.2380 Uncertain 9_107521496_G->A 9 107521496 107521496 G A snp 976.77 0/1 99 88 43 45 0.51 intronic rs2297397 NIPSNAP3A AU NM_015469 exon5 c.11379+44G>A 0.176717 0.2847 0.139167 0.1980 0.2805 Uncertain 9_107526769_G->T 9 107526769 107526769 G T snp 99.28 1/1 9 3 0 3 1.0 intronic rs10820725 NIPSNAP3B AU NM_018376 exon1 c.60+188G>T 0.175319 0.2867 Uncertain 9_107531127_C->T 9 107531127 107531127 C T snp 926.77 0/1 99 62 27 35 0.56 intronic rs12351524 NIPSNAP3B AU NM_018376 exon3 c.4622-16C>T 0.242412 0.4653 0.140781 0.1596 0.5 Uncertain 9_107531152_G->C 9 107531152 107531152 G C snp 1117.77 0/1 99 94 49 45 0.48 exonic rs10761084 NIPSNAP3B AU nonsynonymous SNV NM_018376 exon3 c.G280C p.A94P 0.177716 0.2857 0.140858 0.1973 0.2782 0.27 T 1.000 P -1.096 T 0.993 D 0.969 D Pathogenic 9_107531361_T->C 9 107531361 107531361 T C snp 576.77 0/1 99 30 10 20 0.67 intronic rs2472478 NIPSNAP3B AU NM_018376 exon3 c.4781+59T>C 0.633187 0.5238 Uncertain 9_107533159_A->G 9 107533159 107533159 A G snp 568.77 0/1 99 52 30 22 0.42 exonic rs3739740 NIPSNAP3B AU nonsynonymous SNV NM_018376 exon4 c.A460G p.K154E 0.0672923 0.2232 0.016300 0.0274 0.2316 0.13 T 1.000 P -1.114 T 0.997 D 0.978 D Pathogenic 9_107533175_C->G 9 107533175 107533175 C G snp 928.77 0/1 99 73 33 40 0.55 exonic rs3739741 NIPSNAP3B AU nonsynonymous SNV NM_018376 exon4 c.C476G p.A159G 0.176118 0.2847 0.140704 0.1963 0.2772 0.39 T 0.993 P -1.078 T 0.999 D 0.982 D Pathogenic 9_107547622_C->G 9 107547622 107547622 C G snp 547.77 0/1 99 30 9 21 0.7 intronic rs1331924 ABCA1 AU,AD,AR NM_005502 exon2 c.1081-54C>G 0.245008 0.2649 Uncertain 9_107548493_G->T 9 107548493 107548493 G T snp 1792.77 1/1 99 50 0 50 1.0 intronic rs2740485 ABCA1 AU,AD,AR NM_005502 exon3 c.1983-85G>T 0.929513 0.999 Uncertain 9_107550639_A->G 9 107550639 107550639 A G snp 752.77 0/1 99 50 22 28 0.56 intronic rs4149336 ABCA1 AU,AD,AR NM_005502 exon6 c.4111-67A>G 0.30611 0.6706 Uncertain 9_107556793_-->AAA 9 107556793 107556793 - AAA indel 215.94 1/1 13 23 2 21 0.91 splicing rs377469216 ABCA1 AU,AD,AR NM_005502 exon11 c.10196+2insAAA 0.2178 0.1400 Pathogenic 9_107562804_T->C 9 107562804 107562804 T C snp 4071.77 1/1 99 152 0 152 1.0 exonic rs2230808 ABCA1 AU,AD,AR nonsynonymous SNV NM_005502 exon35 c.A4760G p.K1587R 0.538339 0.5883 0.585038 0.6936 0.5934 1 T 1.0 P -0.978 T 0.018 T 0.034 T ID=COSM3763496;OCCURENCE=1(large_intestine) ID=CM042912;DIS=Altered HDL cholesterol levels;TAG=FP;PUB=15520867 FP Pathogenic 9_107564571_AG->- 9 107564571 107564572 AG - indel 294.77 1/1 21 11 0 11 1.0 intronic rs373740929 ABCA1 AU,AD,AR NM_005502 exon17 c.17845+131_17845+132delAG 0.530551 0.5823 Uncertain 9_107566877_C->A 9 107566877 107566877 C A snp 2937.77 1/1 99 101 0 101 1.0 intronic rs2777801 ABCA1 AU,AD,AR NM_005502 exon19 c.20311-29C>A 0.88119 0.997 0.855605 0.8842 0.9993 Uncertain 9_107568705_C->T 9 107568705 107568705 C T snp 1335.77 0/1 99 116 57 59 0.51 exonic rs2066716 ABCA1 AU,AD,AR synonymous SNV NM_005502 exon31 c.G4281A p.T1427T 0.129792 0.2877 0.072274 0.1074 0.2902 Uncertain 9_107581749_A->C 9 107581749 107581749 A C snp 225.77 0/1 99 14 6 8 0.57 intronic rs2254884 ABCA1 AU,AD,AR NM_005502 exon29 c.35271-117A>C 0.283347 0.5724 Uncertain 9_107585016_G->C 9 107585016 107585016 G C snp 426.77 0/1 99 33 14 19 0.58 intronic rs3818689 ABCA1 AU,AD,AR NM_005502 exon32 c.38353+68G>C 0.121406 0.4206 Uncertain 9_107586753_T->C 9 107586753 107586753 T C snp 683.77 0/1 99 67 33 34 0.51 exonic rs2066714 ABCA1 AU,AD,AR nonsynonymous SNV NM_005502 exon18 c.A2649G p.I883M 0.356829 0.6865 0.245963 0.2133 0.7204 0.12 T 0.122 P -0.919 T 0.002 T 0.002 T ID=CM990005;DIS=Tangier disease;TAG=DM?;PUB=10431237 DM? Pathogenic 9_107588033_C->T 9 107588033 107588033 C T snp 1071.77 0/1 99 98 50 48 0.49 exonic rs2066715 ABCA1 AU,AD,AR nonsynonymous SNV NM_005502 exon17 c.G2473A p.V825I 0.113219 0.4196 0.047209 0.0805 0.4242 0.84 T 1.000 P -1.045 T 0.0 T 0.001 T ID=CM031605;DIS=Increased plasma HDL cholesterol;TAG=FP;PUB=12709788 FP Pathogenic 9_107591272_G->T 9 107591272 107591272 G T snp 1191.77 0/1 99 140 83 57 0.41 exonic rs2853579 ABCA1 AU,AD,AR synonymous SNV NM_005502 exon15 c.C2040A p.I680I 0.339058 0.6855 0.224127 0.2027 0.7117 Uncertain 9_107591478_G->A 9 107591478 107591478 G A snp 43.77 0/1 72 4 2 2 0.5 intronic rs2066717 ABCA1 AU,AD,AR NM_005502 exon36 c.44824+59G>A 0.120008 0.4147 Uncertain 9_107593182_A->T 9 107593182 107593182 A T snp 115.77 0/1 99 40 31 9 0.23 intronic rs4743763 ABCA1 AU,AD,AR NM_005502 exon37 c.46610-23A>T 0.547524 0.7887 0.439489 0.3676 0.8148 Uncertain 9_107599390_G->A 9 107599390 107599390 G A snp 310.77 0/1 99 20 8 12 0.6 intronic rs2297399 ABCA1 AU,AD,AR NM_005502 exon40 c.52782+13G>A 0.1248 0.4216 0.050746 0.0905 0.4295 Uncertain 9_107602813_-->T 9 107602813 107602813 - T indel 402.73 0/1 99 39 23 16 0.41 intronic rs2067484 ABCA1 AU,AD,AR NM_005502 exon42 c.56205+13insT 0.173123 0.4216 0.105671 0.1124 0.4391 Uncertain 9_107651526_A->G 9 107651526 107651526 A G snp 703.77 0/1 99 62 34 28 0.45 intronic rs2275545 ABCA1 AU,AD,AR NM_005502 exon48 c.104881+50A>G 0.169529 0.0645 0.192249 0.1551 0.0725 Uncertain 9_107665739_G->A 9 107665739 107665739 G A snp 255.77 0/1 99 20 12 8 0.4 intronic rs2575876 ABCA1 AU,AD,AR NM_005502 exon49 c.119299-155G>A 0.263179 0.2401 Uncertain 9_107665751_C->T 9 107665751 107665751 C T snp 386.77 0/1 99 29 13 16 0.55 intronic rs2482424 ABCA1 AU,AD,AR NM_005502 exon49 c.119299-143C>T 0.129792 0.1935 Uncertain 9_108060515_G->A 9 108060515 108060515 G A snp 968.77 1/1 69 35 0 35 1.0 intronic rs2036876 SLC44A1 AU NM_001286730 exon2 c.54351-985G>A 0.988019 1 Uncertain 9_108147627_G->A 9 108147627 108147627 G A snp 1398.77 1/1 99 46 0 46 1.0 intronic rs2771034 SLC44A1 AU NM_001286730 exon15 c.140553-75G>A 0.98103 0.999 Uncertain 9_108152199_G->A 9 108152199 108152199 G A snp 3584.77 1/1 99 130 0 130 1.0 UTR3 rs2771040 SLC44A1 AU 0.79353 0.998 0.8666 0.9938 Uncertain 9_108275777_T->C 9 108275777 108275777 T C snp 261.8 1/1 21 8 0 8 1.0 intronic rs10739910 FSD1L AU NM_001287191 exon10 c.65378-102T>C 0.996605 1 Uncertain 9_108366734_G->A 9 108366734 108366734 G A snp 1800.77 0/1 99 157 77 80 0.51 exonic rs34787999 FKTN AR nonsynonymous SNV NM_001079802 exon6 c.G608A p.R203Q 0.158147 0.0913 0.264570 0.2446 0.0950 0.16 T 0.922 P -1.150 T 0.947 T 0.197 D ID=COSM3763499,COSM3763500;OCCURENCE=1(large_intestine) Pathogenic 9_108380355_C->A 9 108380355 108380355 C A snp 483.77 0/1 99 53 30 23 0.43 exonic rs17309806 FKTN AR synonymous SNV NM_001079802 exon9 c.C1026A p.L342L 0.178315 0.0903 0.290878 0.2518 0.0937 1.000 P ID=COSM4163187;OCCURENCE=1(thyroid) Uncertain 9_108456888_A->C 9 108456888 108456888 A C snp 877.77 0/1 99 68 30 38 0.56 UTR5 rs2271247 TMEM38B AU 0.484425 0.5734 Uncertain 9_108467850_C->G 9 108467850 108467850 C G snp 658.77 0/1 99 48 24 24 0.5 intronic rs2271246 TMEM38B AU NM_018112 exon2 c.10936-27C>G 0.185903 0.4405 0.080194 0.1163 0.4694 Uncertain 9_108468129_C->T 9 108468129 108468129 C T snp 129.77 0/1 99 19 14 5 0.26 intronic rs3817141 TMEM38B AU NM_018112 exon2 c.11093+95C>T 0.322284 0.4405 Uncertain 9_108483741_G->A 9 108483741 108483741 G A snp 201.8 0/1 21 7 1 6 0.86 intronic rs7859253 TMEM38B AU NM_018112 exon3 c.26876-76G>A 0.522165 0.5704 Uncertain 9_108521693_A->G 9 108521693 108521693 A G snp 1167.77 0/1 99 99 47 52 0.53 intronic rs10759135 TMEM38B AU NM_018112 exon5 c.53530+11222A>G 0.209665 0.4395 Uncertain 9_108522175_C->T 9 108522175 108522175 C T snp 2933.77 0/1 99 250 124 126 0.5 intronic rs10114077 TMEM38B AU NM_018112 exon5 c.53530+11704C>T 0.322883 0.4415 Uncertain 9_109689859_T->C 9 109689859 109689859 T C snp 4322.77 1/1 99 159 2 157 0.99 exonic rs3814540 ZNF462 AU synonymous SNV NM_021224 exon3 c.T3666C p.N1222N 0.51877 0.4802 0.454406 0.4116 0.4667 Uncertain 9_109690879_C->T 9 109690879 109690879 C T snp 2760.77 0/1 99 249 144 105 0.42 exonic rs201443261 ZNF462 AU synonymous SNV NM_021224 exon3 c.C4686T p.D1562D 0.000399361 0.002 0.0002 0.0035 Uncertain 9_109691676_A->G 9 109691676 109691676 A G snp 7187.77 1/1 99 248 0 248 1.0 exonic rs3814538 ZNF462 AU nonsynonymous SNV NM_021224 exon3 c.A5483G p.N1828S 0.559505 0.4782 0.501922 0.4256 0.4699 0.85 T 0.0 P -1.031 T 0.0 T 0.0 T ID=COSM3982673,COSM3982674;OCCURENCE=1(thyroid) Pathogenic 9_109765477_C->G 9 109765477 109765477 C G snp 1375.77 0/1 99 105 48 57 0.54 ncRNA_intronic LOC340512 AU Uncertain 9_110047132_G->C 9 110047132 110047132 G C snp 3756.77 1/1 99 144 0 144 1.0 intronic rs10733562 RAD23B AU NM_001244713 exon1 c.3-62G>C 0.967851 0.9633 Uncertain 9_110047316_A->G 9 110047316 110047316 A G snp 512.77 1/1 39 16 0 16 1.0 intronic rs10739234 RAD23B AU NM_001244713 exon1 c.3+122A>G 0.764177 0.7599 Uncertain 9_110080967_A->G 9 110080967 110080967 A G snp 250.8 1/1 21 7 0 7 1.0 intronic rs1805332 RAD23B AU NM_001244713 exon6 c.33841-65A>G 0.706669 0.7609 Uncertain 9_110081018_A->G 9 110081018 110081018 A G snp 1201.77 1/1 90 42 0 42 1.0 intronic rs1805335 RAD23B AU NM_001244713 exon6 c.33841-14A>G 0.579073 0.748 0.553668 0.5495 0.7492 Uncertain 9_110084417_G->C 9 110084417 110084417 G C snp 886.77 0/1 99 65 27 38 0.58 intronic rs11573700 RAD23B AU NM_001244713 exon7 c.37208+18G>C 0.048722 0.0268 0.052053 0.0507 0.0287 Uncertain 9_110086149_G->A 9 110086149 110086149 G A snp 2405.77 1/1 99 73 0 73 1.0 intronic rs1805334 RAD23B AU NM_001244713 exon8 c.38979-21G>A 0.803714 0.7619 0.821000 0.7501 0.7649 Uncertain 9_110093971_A->- 9 110093971 110093971 A - indel 3419.73 1/1 99 144 2 142 0.99 UTR3 rs3056494 RAD23B AU 0.658147 0.7262 0.5122 0.5648 Uncertain 9_110249505_C->T 9 110249505 110249505 C T snp 3034.77 0/1 99 250 118 132 0.53 intronic rs2236599 KLF4 AU NM_004235 exon2 c.1442+32C>T 0.140176 0.2927 0.136475 0.1825 0.2922 Uncertain 9_111616818_T->C 9 111616818 111616818 T C snp 68.77 0/1 97 12 8 4 0.33 downstream rs3750466 ACTL7B AU 0.745208 0.7302 Uncertain 9_111625913_A->G 9 111625913 111625913 A G snp 2688.77 0/1 99 232 117 115 0.5 UTR3 rs4978370 ACTL7A AU 0.882788 0.8294 0.885130 0.8534 0.8257 Uncertain 9_111631647_C->T 9 111631647 111631647 C T snp 654.77 0/1 99 32 12 20 0.63 intronic rs3763644 IKBKAP AR NM_003640 exon1 c.68+185C>T 0.665335 0.5228 Uncertain 9_111637331_C->A 9 111637331 111637331 C A snp 1051.77 0/1 99 121 71 50 0.41 intronic rs1981268 IKBKAP AR NM_003640 exon2 c.5856+81C>A 0.858027 0.8562 Uncertain 9_111637332_C->G 9 111637332 111637332 C G snp 1077.77 0/1 99 120 71 49 0.41 intronic rs1981267 IKBKAP AR NM_003640 exon2 c.5856+82C>G 0.858027 0.8562 Uncertain 9_111641627_C->T 9 111641627 111641627 C T snp 400.77 0/1 99 22 8 14 0.64 intronic rs2275496 IKBKAP AR NM_003640 exon5 c.10331-98C>T 0.31869 0.4762 Uncertain 9_111653574_C->G 9 111653574 111653574 C G snp 2097.77 0/1 99 217 125 92 0.42 exonic rs1063110 IKBKAP AR synonymous SNV NM_003640 exon28 c.G3069C p.L1023L 0.315495 0.4762 0.338920 0.3913 0.4483 ID=COSM3763506;OCCURENCE=1(large_intestine),2(thyroid) Uncertain 9_111656103_AG->- 9 111656103 111656104 AG - indel 474.73 0/1 99 32 20 12 0.38 intronic rs202187313 IKBKAP AR NM_003640 exon12 c.24828-119_24828-118delAG 0.00199681 0.0099 Uncertain 9_111661150_G->A 9 111661150 111661150 G A snp 83.77 0/1 72 7 3 4 0.57 intronic rs4978760 IKBKAP AR NM_003640 exon17 c.29635+121G>A 0.679712 0.5218 Uncertain 9_111665719_G->A 9 111665719 111665719 G A snp 376.77 0/1 99 18 5 13 0.72 intronic rs17792422 IKBKAP AR NM_003640 exon23 c.34448-123G>A 0.114217 0.1667 Uncertain 9_111670707_T->C 9 111670707 111670707 T C snp 3197.05 1/1 99 111 0 111 1.0 intronic rs838824 IKBKAP AR NM_003640 exon25 c.39290+23T>C 0.744209 0.6875 0.709826 0.6971 0.7041 Uncertain 9_111670824_T->C 9 111670824 111670824 T C snp 175.9 1/1 15 5 0 5 1.0 intronic rs838823 IKBKAP AR NM_003640 exon25 c.39290+140T>C 0.944489 1 Uncertain 9_111678428_T->A 9 111678428 111678428 T A snp 1885.77 1/1 99 60 0 60 1.0 intronic rs1772046 IKBKAP AR NM_003640 exon28 c.47089-55T>A 0.590056 0.5923 Uncertain 9_111679748_A->- 9 111679748 111679748 A - indel 44.73 0/1 82 20 12 8 0.4 intronic rs35676797 IKBKAP AR NM_003640 exon29 c.48432-78delA 0.413339 0.4127 Uncertain 9_111688767_C->T 9 111688767 111688767 C T snp 2861.77 0/1 99 250 134 116 0.46 intronic rs2275635 IKBKAP AR NM_003640 exon33 c.57408-35C>T 0.114417 0.1657 0.131016 0.1452 0.1556 Uncertain 9_111693132_T->C 9 111693132 111693132 T C snp 77.77 0/1 99 6 3 3 0.5 intronic rs838818 IKBKAP AR NM_003640 exon36 c.61882-144T>C 0.39377 0.249 Uncertain 9_111697054_G->A 9 111697054 111697054 G A snp 99.28 1/1 9 3 0 3 1.0 intronic rs1759842 FAM206A AU NM_017832 exon1 c.79+209G>A 0.589657 0.5903 Uncertain 9_111705382_C->A 9 111705382 111705382 C A snp 85.77 0/1 67 6 2 4 0.67 intronic rs184712405 CTNNAL1 AU NM_001286974 exon2 c.191+58C>A 0.000399361 0.002 Uncertain 9_111712910_G->C 9 111712910 111712910 G C snp 2998.77 1/1 99 114 0 114 1.0 intronic rs2780334 CTNNAL1 AU NM_001286974 exon6 c.9355-1578G>C 0.942492 1 0.9570 1 Uncertain 9_111735141_T->G 9 111735141 111735141 T G snp 33.77 0/1 62 15 9 6 0.4 intronic rs756919651 CTNNAL1 AU NM_001286974 exon11 c.29980+28T>G 0.0879 0.1011 Uncertain 9_111746542_A->T 9 111746542 111746542 A T snp 229.77 0/1 99 13 6 7 0.54 intronic rs201596310 CTNNAL1 AU NM_001286974 exon15 c.41493-84A>T 0.00199681 0.0099 Uncertain 9_111746607_T->C 9 111746607 111746607 T C snp 580.77 0/1 99 48 24 24 0.5 intronic rs838838 CTNNAL1 AU NM_001286974 exon15 c.41493-19T>C 0.116414 0.1677 0.137091 0.1462 0.1504 Uncertain 9_111754288_T->C 9 111754288 111754288 T C snp 1308.77 1/1 93 49 1 48 0.98 intronic rs838836 CTNNAL1 AU NM_001286974 exon17 c.49778-623T>C 0.945288 1 0.921329 0.9467 1 Uncertain 9_111782531_T->G 9 111782531 111782531 T G snp 123.78 0/1 27 5 1 4 0.8 UTR3 rs7776 TMEM245 AU 0.252796 0.3621 Uncertain 9_111798751_C->T 9 111798751 111798751 C T snp 1292.77 1/1 96 41 0 41 1.0 intronic rs2256253 TMEM245 AU NM_032012 exon3 c.15921+91C>T 0.815695 1 Uncertain 9_111800234_G->A 9 111800234 111800234 G A snp 1831.77 1/1 99 56 0 56 1.0 intronic rs534286 TMEM245 AU NM_032012 exon4 c.17557-62G>A 0.649161 0.8552 Uncertain 9_111808432_C->G 9 111808432 111808432 C G snp 1582.77 0/1 99 139 70 69 0.5 intronic rs7041715 TMEM245 AU NM_032012 exon5 c.29823-4130C>G 0.109824 0.1369 Uncertain 9_111808437_C->A 9 111808437 111808437 C A snp 1757.77 0/1 99 142 72 70 0.49 intronic rs7041716 TMEM245 AU NM_032012 exon5 c.29823-4125C>A 0.109824 0.1369 0.088042 Uncertain 9_111812825_C->T 9 111812825 111812825 C T snp 7048.77 1/1 99 250 0 250 1.0 intronic rs614253 TMEM245 AU NM_032012 exon6 c.30110-24C>T 0.942292 1 0.924525 0.9473 0.9999 Uncertain 9_111843055_A->T 9 111843055 111843055 A T snp 797.77 1/1 57 29 0 29 1.0 intronic rs497196 TMEM245 AU NM_032012 exon11 c.60379-63A>T 0.977835 1 Uncertain 9_111853412_C->T 9 111853412 111853412 C T snp 743.77 0/1 99 65 37 28 0.43 exonic rs2271877 TMEM245 AU nonsynonymous SNV NM_032012 exon5 c.G940A p.A314T 0.038139 0.1647 0.001805 0.0176 0.1502 0.81 T 0.0 P -0.956 T 0.0 T 0.0 T Pathogenic 9_111882365_A->G 9 111882365 111882365 A G snp 46.74 1/1 6 3 0 3 1.0 upstream rs7854745 TMEM245 AU 0.629992 0.6567 Uncertain 9_111899928_A->G 9 111899928 111899928 A G snp 501.77 0/1 99 40 20 20 0.5 intronic rs10759329 FRRS1L AR NM_014334 exon1 c.173+21A>G 0.599241 0.6558 0.628325 0.6208 0.6295 Uncertain 9_111903890_G->A 9 111903890 111903890 G A snp 45.77 0/1 74 37 31 6 0.16 intronic FRRS1L AR NM_014334 exon2 c.4135+21G>A Uncertain 9_111903890_-->A 9 111903890 111903890 - A indel 191.73 0/1 99 37 19 18 0.49 intronic rs11421991 FRRS1L AR NM_014334 exon2 c.4135+21insA 0.235224 0.3363 0.211502 0.2217 0.3385 ID=COSN229939;OCCURENCE=1(NS) Uncertain 9_111911775_G->A 9 111911775 111911775 G A snp 695.77 0/1 99 43 19 24 0.56 intronic rs1533641 FRRS1L AR NM_014334 exon4 c.12181-140G>A 0.739617 0.7609 Uncertain 9_111911823_C->G 9 111911823 111911823 C G snp 1378.77 0/1 99 118 65 53 0.45 intronic rs999729 FRRS1L AR NM_014334 exon4 c.12181-92C>G 0.0894569 0.1687 Uncertain 9_111929420_C->G 9 111929420 111929420 C G snp 274.8 1/1 21 10 0 10 1.0 exonic rs10979723 FRRS1L AR nonsynonymous SNV NM_014334 exon1 c.G152C p.R51P 0.998602 1 1 1 0.06 T 0.0 P -0.903 T 0.0 T 0.0 T ID=COSM4163201;OCCURENCE=1(thyroid) Pathogenic 9_111929421_G->C 9 111929421 111929421 G C snp 274.8 1/1 21 10 0 10 1.0 exonic rs10979724 FRRS1L AR nonsynonymous SNV NM_014334 exon1 c.C151G p.R51G 1 1 1 1 0.11 T 0.0 P -1.038 T 0.0 T 0.0 T ID=COSM4163202;OCCURENCE=1(thyroid) Pathogenic 9_111936732_G->A 9 111936732 111936732 G A snp 806.77 0/1 99 73 35 38 0.52 UTR3 rs10733569 EPB41L4B AU 0.777756 0.751 0.7838 0.7699 Uncertain 9_111938926_C->T 9 111938926 111938926 C T snp 1026.77 0/1 99 69 27 42 0.61 exonic rs10979729 EPB41L4B AU synonymous SNV NM_019114 exon25 c.G2538A p.P846P 0.0742812 0.1052 0.041332 0.0726 0.1328 ID=COSM3763509;OCCURENCE=1(large_intestine) Uncertain 9_111945049_T->G 9 111945049 111945049 T G snp 1992.77 0/1 99 204 112 92 0.45 exonic rs3750450 EPB41L4B AU nonsynonymous SNV NM_019114 exon24 c.A2447C p.N816T 0.723842 0.748 0.749790 0.7260 0.7550 0.58 T 1.000 P -0.951 T 0.0 T 0.001 T Pathogenic 9_111945166_A->G 9 111945166 111945166 A G snp 4305.77 1/1 99 153 1 152 0.99 intronic rs10122682 EPB41L4B AU NM_019114 exon3 c.8244+89A>G 0.997804 1 Uncertain 9_111945260_T->C 9 111945260 111945260 T C snp 379.77 0/1 99 26 12 14 0.54 intronic rs3750449 EPB41L4B AU NM_019114 exon3 c.8244+183T>C 0.0744808 0.1062 Uncertain 9_111970046_A->T 9 111970046 111970046 A T snp 158.77 0/1 99 10 4 6 0.6 intronic rs7874957 EPB41L4B AU NM_019114 exon9 c.33370-157A>T 0.478435 0.3591 Uncertain 9_111970471_T->A 9 111970471 111970471 T A snp 124.77 0/1 66 7 2 5 0.71 intronic rs7861753 EPB41L4B AU NM_019114 exon9 c.33496+142T>A 0.478235 0.3581 Uncertain 9_112020668_T->C 9 112020668 112020668 T C snp 1085.77 0/1 99 108 63 45 0.42 intronic rs745388 EPB41L4B AU NM_019114 exon20 c.83744+91T>C 0.341853 0.2887 Uncertain 9_112020713_A->G 9 112020713 112020713 A G snp 2153.77 1/1 99 70 0 70 1.0 intronic rs893917 EPB41L4B AU NM_019114 exon20 c.83744+136A>G 0.836062 0.876 Uncertain 9_112025473_C->A 9 112025473 112025473 C A snp 176.9 1/1 15 6 0 6 1.0 intronic rs1982226 EPB41L4B AU NM_019114 exon21 c.88549+91C>A 0.965855 1 Uncertain 9_112030900_C->T 9 112030900 112030900 C T snp 824.77 1/1 63 22 0 22 1.0 intronic rs10816794 EPB41L4B AU NM_019114 exon24 c.93880+187C>T 0.519169 0.6627 Uncertain 9_112030914_C->G 9 112030914 112030914 C G snp 218.84 1/1 18 6 0 6 1.0 intronic rs12005997 EPB41L4B AU NM_019114 exon24 c.93880+201C>G 0.519369 0.6627 Uncertain 9_112030916_C->T 9 112030916 112030916 C T snp 182.9 1/1 15 5 0 5 1.0 intronic rs10816795 EPB41L4B AU NM_019114 exon24 c.93880+203C>T 0.519369 0.6627 Uncertain 9_112041925_A->T 9 112041925 112041925 A T snp 551.77 1/1 42 16 0 16 1.0 intronic rs2014890 EPB41L4B AU NM_019114 exon25 c.105263-171A>T 0.727436 0.8204 Uncertain 9_112069477_T->A 9 112069477 112069477 T A snp 77.77 0/1 99 8 5 3 0.38 intronic rs13290752 EPB41L4B AU NM_019114 exon26 c.145587-12943T>A 0.323682 0.5208 0.3923 0.5609 0.000 P Uncertain 9_112151349_C->T 9 112151349 112151349 C T snp 37.77 0/1 66 5 2 3 0.6 intronic rs1371787 PTPN3 AU NM_001145371 exon5 c.9677-163C>T 0.849042 0.752 Uncertain 9_112170701_-->AAAC 9 112170701 112170701 - AAAC indel 1177.73 0/1 99 51 11 40 0.78 intronic rs35463120 PTPN3 AU NM_001145371 exon10 c.28822+44insAAAC 0.868211 0.8214 0.8237 0.8105 Uncertain 9_112172477_T->G 9 112172477 112172477 T G snp 1677.77 0/1 99 125 58 67 0.54 intronic rs2275699 PTPN3 AU NM_001145371 exon12 c.30673-31T>G 0.861833 0.8512 0.8314 Uncertain 9_112273733_A->G 9 112273733 112273733 A G snp 661.77 0/1 99 53 26 27 0.51 downstream rs61358126 MIR3927 AU 0.0788738 0.2262 0.0713 0.2667 Uncertain 9_112629397_G->A 9 112629397 112629397 G A snp 2258.77 1/1 99 82 0 82 1.0 intronic rs7044189 PALM2 AU NM_053016 exon2 c.87002-373G>A 0.646965 0.6845 0.5956 0.6465 Uncertain 9_112629446_G->C 9 112629446 112629446 G C snp 314.77 0/1 99 33 20 13 0.39 intronic rs13295100 PALM2 AU NM_053016 exon2 c.87002-324G>C 0.366214 0.4425 Uncertain 9_112629486_C->G 9 112629486 112629486 C G snp 105.77 0/1 99 12 7 5 0.42 intronic rs10816903 PALM2 AU NM_053016 exon2 c.87002-284C>G Uncertain 9_112629858_A->G 9 112629858 112629858 A G snp 1027.77 1/1 75 33 0 33 1.0 intronic rs2769154 PALM2 AU NM_053016 exon2 c.87083+7A>G 0.905351 0.9593 0.848070 0.8507 0.9616 Uncertain 9_112778426_A->G 9 112778426 112778426 A G snp 428.77 1/1 33 14 0 14 1.0 intronic rs723706 PALM2-AKAP2 AU NM_147150 exon7 c.235551+107A>G 0.198482 0.256 Uncertain 9_112778444_A->C 9 112778444 112778444 A C snp 437.77 1/1 33 14 0 14 1.0 intronic rs10116779 PALM2-AKAP2 AU NM_147150 exon7 c.235551+125A>C 0.459065 0.4931 Uncertain 9_112778461_G->A 9 112778461 112778461 G A snp 391.77 1/1 30 10 0 10 1.0 intronic rs12685739 PALM2-AKAP2 AU NM_147150 exon7 c.235551+142G>A 0.179513 0.2698 Uncertain 9_112898327_A->G 9 112898327 112898327 A G snp 607.77 1/1 45 22 0 22 1.0 intronic rs1475612 AKAP2 AU NM_001198656 exon2 c.87427-79A>G 0.982228 1 Uncertain 9_112899361_A->C 9 112899361 112899361 A C snp 2416.77 1/1 99 90 0 90 1.0 exonic rs386420806 AKAP2 AU nonsynonymous SNV NM_001004065 exon2 c.A1111C p.K371Q 0.933107 0.998 0.861013 0.8757 0.9986 0.73 T 0.000 P -0.958 T 0.0 T 0.0 T Pathogenic 9_112899534_G->A 9 112899534 112899534 G A snp 1352.77 0/1 99 112 54 58 0.52 exonic rs3739457 AKAP2 AU synonymous SNV NM_001004065 exon2 c.G1284A p.A428A 0.00279553 0.0129 0.000077 0.0016 0.0217 Uncertain 9_112900341_-->GAAGCT 9 112900341 112900341 - GAAGCT indel 2974.73 0/1 99 100 48 52 0.52 exonic rs150402481 AKAP2 AU nonframeshift insertion NM_001004065 exon2 c.2091_2092insGAAGCT p.E697delinsEEA 0.13099 0.2133 0.135144 0.1262 0.1824 ID=COSM308688,COSM308687;OCCURENCE=1(lung),1(large_intestine) Uncertain 9_112900785_A->G 9 112900785 112900785 A G snp 2084.77 1/1 99 67 0 67 1.0 exonic rs3739456 AKAP2 AU synonymous SNV NM_001004065 exon2 c.A2535G p.S845S 0.326478 0.6587 0.219514 0.2960 0.6488 Uncertain 9_112918531_A->G 9 112918531 112918531 A G snp 295.77 0/1 99 23 11 12 0.52 intronic rs10759392 AKAP2 AU NM_001198656 exon3 c.107619-67A>G 0.735024 0.9643 Uncertain 9_112918581_T->C 9 112918581 112918581 T C snp 1400.77 1/1 99 48 0 48 1.0 intronic rs7862044 AKAP2 AU NM_001198656 exon3 c.107619-17T>C 0.794129 0.9702 0.709596 0.7236 0.9687 Uncertain 9_112924558_A->T 9 112924558 112924558 A T snp 982.77 1/1 75 29 0 29 1.0 intronic rs2148989 AKAP2 AU NM_001198656 exon4 c.113433+146A>T 0.675719 0.8571 Uncertain 9_112930587_T->C 9 112930587 112930587 T C snp 603.77 0/1 99 55 29 26 0.47 intronic rs78868378 AKAP2 AU NM_001198656 exon5 c.119699-91T>C 0.0213658 0.006 Uncertain 9_112963504_A->G 9 112963504 112963504 A G snp 7211.77 1/1 99 250 0 250 1.0 exonic rs10120707 C9orf152 AU synonymous SNV NM_001012993 exon2 c.T444C p.D148D 0.96905 1 0.924343 0.9307 0.9999 Uncertain 9_112963702_G->A 9 112963702 112963702 G A snp 2360.77 0/1 99 236 133 103 0.44 exonic rs4978888 C9orf152 AU synonymous SNV NM_001012993 exon2 c.C246T p.N82N 0.218051 0.126 0.204598 0.1829 0.1401 Uncertain 9_113006420_A->G 9 113006420 113006420 A G snp 2309.77 1/1 99 88 0 88 1.0 UTR3 rs5843 TXN AU 0.692292 0.9028 0.573366 0.6170 0.9119 Uncertain 9_113007237_G->A 9 113007237 113007237 G A snp 934.77 0/1 99 104 62 42 0.4 intronic rs4135221 TXN AU NM_003329 exon2 c.687+114G>A 0.103035 0.0456 Uncertain 9_113007289_T->G 9 113007289 113007289 T G snp 1798.77 1/1 99 60 0 60 1.0 intronic rs4135220 TXN AU NM_003329 exon2 c.687+166T>G 0.692492 0.9028 Uncertain 9_113007320_GAA->- 9 113007320 113007322 GAA - indel 1401.73 1/1 75 36 0 36 1.0 intronic rs4135219 TXN AU NM_003329 exon2 c.687+197_687+199delGAA 0.486621 0.3601 Uncertain 9_113007361_T->C 9 113007361 113007361 T C snp 294.78 1/1 24 8 0 8 1.0 intronic rs4135218 TXN AU NM_003329 exon2 c.687+238T>C 0.486621 0.3601 Uncertain 9_113091653_A->C 9 113091653 113091653 A C snp 120.77 0/1 69 7 3 4 0.57 intronic rs10980325 TXNDC8 AU NM_001003936 exon4 c.25610+82A>C 0.301917 0.4663 Uncertain 9_113132221_G->A 9 113132221 113132221 G A snp 1394.77 0/1 99 120 67 53 0.44 exonic rs17204533 SVEP1 AU nonsynonymous SNV NM_153366 exon47 c.C10676T p.T3559M 0.134185 0.2768 0.119271 0.1639 0.2818 0.27 T 1.000 P -0.987 T 0.995 D 0.701 D Pathogenic 9_113139713_T->C 9 113139713 113139713 T C snp 691.77 0/1 99 81 48 33 0.41 intronic rs7873506 SVEP1 AU NM_153366 exon4 c.10828+67T>C 0.25639 0.4058 Uncertain 9_113139783_G->A 9 113139783 113139783 G A snp 211.77 0/1 99 28 18 10 0.36 intronic rs2077800 SVEP1 AU NM_153366 exon4 c.10828+137G>A 0.827476 0.6607 Uncertain 9_113141973_G->A 9 113141973 113141973 G A snp 40.77 0/1 69 5 3 2 0.4 intronic rs992885 SVEP1 AU NM_153366 exon5 c.12979+176G>A 0.819888 0.6617 Uncertain 9_113149405_T->G 9 113149405 113149405 T G snp 158.77 0/1 99 22 15 7 0.32 intronic rs4978921 SVEP1 AU NM_153366 exon7 c.20746-159T>G 0.169529 0.4276 Uncertain 9_113166697_T->A 9 113166697 113166697 T A snp 2123.77 0/1 99 185 90 95 0.51 exonic rs1410049 SVEP1 AU synonymous SNV NM_153366 exon39 c.A9576T p.V3192V 0.631989 0.5188 0.618671 0.5613 0.4848 ID=COSM4163204;OCCURENCE=1(thyroid) Uncertain 9_113168239_A->G 9 113168239 113168239 A G snp 119.77 0/1 99 7 3 4 0.57 intronic rs6477768 SVEP1 AU NM_153366 exon11 c.39621-200A>G 0.430511 0.4375 Uncertain 9_113168344_G->C 9 113168344 113168344 G C snp 1462.77 0/1 99 136 75 61 0.45 intronic rs7850488 SVEP1 AU NM_153366 exon11 c.39621-95G>C 0.427716 0.4365 Uncertain 9_113169630_T->C 9 113169630 113169630 T C snp 3310.77 0/1 99 246 116 130 0.53 exonic rs7046213 SVEP1 AU synonymous SNV NM_153366 exon38 c.A8250G p.A2750A 0.655351 0.5179 0.649943 0.5695 0.4846 Uncertain 9_113169631_G->A 9 113169631 113169631 G A snp 3292.77 0/1 99 247 117 130 0.53 exonic rs7030192 SVEP1 AU nonsynonymous SNV NM_153366 exon38 c.C8249T p.A2750V 0.426917 0.4365 0.368712 0.3600 0.3968 0.35 T 0.000 P -0.923 T 0.0 T 0.0 T ID=COSM3763520;OCCURENCE=1(large_intestine) Pathogenic 9_113192388_T->- 9 113192388 113192388 T - indel 148.9 1/1 14 19 1 18 0.95 intronic rs11331398 SVEP1 AU NM_153366 exon15 c.63466+104delT Uncertain 9_113192655_T->G 9 113192655 113192655 T G snp 1176.77 0/1 99 87 37 50 0.57 exonic rs2986671 SVEP1 AU nonsynonymous SNV NM_153366 exon33 c.A5429C p.E1810A 0.185703 0.4087 0.128190 0.2088 0.4422 0.68 T 0.999 P -0.950 T 0.004 T 0.007 T Pathogenic 9_113192773_A->G 9 113192773 113192773 A G snp 905.77 0/1 99 107 66 41 0.38 intronic rs3739448 SVEP1 AU NM_153366 exon16 c.63912+43A>G 0.163938 0.4266 0.029098 0.0847 0.3921 Uncertain 9_113192785_A->T 9 113192785 113192785 A T snp 1461.77 0/1 99 94 34 60 0.64 intronic rs3739447 SVEP1 AU NM_153366 exon16 c.63912+55A>T 0.145966 0.3323 Uncertain 9_113196429_C->T 9 113196429 113196429 C T snp 130.03 1/1 12 4 0 4 1.0 intronic rs4978927 SVEP1 AU NM_153366 exon19 c.67797-186C>T 0.858826 0.9931 Uncertain 9_113207962_A->C 9 113207962 113207962 A C snp 849.77 1/1 66 24 0 24 1.0 intronic rs7847560 SVEP1 AU NM_153366 exon23 c.79298-154A>C 0.847045 0.9643 Uncertain 9_113208250_T->G 9 113208250 113208250 T G snp 750.77 0/1 99 74 45 29 0.39 exonic rs7863519 SVEP1 AU nonsynonymous SNV NM_153366 exon26 c.A4330C p.M1444L 0.339657 0.4504 0.252006 0.2466 0.4300 0.69 T 0.0 P -0.952 T 0.002 T 0.003 T ID=COSM3763523;OCCURENCE=1(large_intestine) Pathogenic 9_113212205_G->A 9 113212205 113212205 G A snp 478.77 1/1 36 13 0 13 1.0 intronic rs2095294 SVEP1 AU NM_153366 exon25 c.83520-133G>A 0.859225 0.9931 Uncertain 9_113212269_T->C 9 113212269 113212269 T C snp 877.77 0/1 99 82 45 37 0.45 intronic rs80266210 SVEP1 AU NM_153366 exon25 c.83520-69T>C 0.00599042 0.0288 Uncertain 9_113213726_A->G 9 113213726 113213726 A G snp 7022.77 1/1 99 247 0 247 1.0 intronic rs4421419 SVEP1 AU NM_153366 exon26 c.84864+44A>G 0.882388 0.9931 0.833641 0.8554 0.9977 Uncertain 9_113218098_-->AAAGA 9 113218098 113218098 - AAAGA indel 2620.73 1/1 99 39 0 39 1.0 intronic rs112071235 SVEP1 AU NM_153366 exon27 c.89165+115insAAAGA 0.882788 0.9931 Uncertain 9_113219779_A->C 9 113219779 113219779 A C snp 119.77 0/1 99 7 3 4 0.57 intronic rs7875113 SVEP1 AU NM_153366 exon28 c.90814+147A>C 0.516573 0.503 Uncertain 9_113220820_C->T 9 113220820 113220820 C T snp 2169.77 0/1 99 185 85 100 0.54 exonic rs10980398 SVEP1 AU synonymous SNV NM_153366 exon20 c.G3507A p.A1169A 0.184305 0.4067 0.129352 0.2220 0.4479 Uncertain 9_113220899_T->C 9 113220899 113220899 T C snp 848.77 0/1 99 74 38 36 0.49 intronic SVEP1 AU NM_153366 exon29 c.92024+57T>C Uncertain 9_113228098_G->T 9 113228098 113228098 G T snp 1643.77 0/1 99 119 54 65 0.55 intronic rs10980401 SVEP1 AU NM_153366 exon31 c.99326-46G>T 0.1873 0.4087 0.128449 0.2026 0.4381 Uncertain 9_113233720_G->A 9 113233720 113233720 G A snp 3135.77 0/1 99 247 123 124 0.5 exonic rs10980402 SVEP1 AU synonymous SNV NM_153366 exon16 c.C2922T p.A974A 0.191494 0.4206 0.129763 0.2029 0.4386 Uncertain 9_113233956_C->T 9 113233956 113233956 C T snp 336.78 1/1 27 9 0 9 1.0 intronic rs7860284 SVEP1 AU NM_153366 exon33 c.105059+79C>T 0.896366 0.9931 Uncertain 9_113243811_CTGTCTA->- 9 113243811 113243817 CTGTCTA - indel 389.73 0/1 99 14 5 9 0.64 intronic rs3841727 SVEP1 AU NM_153366 exon37 c.114898+95_114898+101delCTGTCTA 0.326478 0.4325 Uncertain 9_113243820_G->A 9 113243820 113243820 G A snp 113.77 0/1 99 8 4 4 0.5 intronic rs3818766 SVEP1 AU NM_153366 exon37 c.114898+104G>A 0.183307 0.4107 Uncertain 9_113308284_A->T 9 113308284 113308284 A T snp 638.77 0/1 99 59 36 23 0.39 intronic rs2991363 SVEP1 AU NM_153366 exon46 c.179576-110A>T 0.83127 0.6587 Uncertain 9_113311958_G->A 9 113311958 113311958 G A snp 379.77 0/1 99 20 8 12 0.6 intronic rs1112029 SVEP1 AU NM_153366 exon47 c.183310-170G>A 0.598442 0.5565 Uncertain 9_113490776_C->T 9 113490776 113490776 C T snp 446.77 1/1 33 15 0 15 1.0 intronic rs10817087 MUSK AR NM_001166280 exon6 c.59783-191C>T 0.848043 0.9216 Uncertain 9_113490925_G->A 9 113490925 113490925 G A snp 2068.77 1/1 99 87 2 85 0.98 intronic rs12551974 MUSK AR NM_001166280 exon6 c.59783-42G>A 0.248403 0.499 0.2326 0.5208 Uncertain 9_113509778_C->T 9 113509778 113509778 C T snp 628.77 1/1 48 17 0 17 1.0 intronic rs2846448 MUSK AR NM_005592 exon7 c.78736-142C>T 0.730232 0.7232 Uncertain 9_113538122_G->A 9 113538122 113538122 G A snp 665.77 0/1 99 67 36 31 0.46 exonic rs2274419 MUSK AR nonsynonymous SNV NM_005592 exon9 c.G1239A p.M413I 0.100439 0.1895 0.097774 0.1210 0.2003 0 D 1.0 P -1.097 T 0.0 T 0.0 T CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000117642.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 ID=COSM3763532,COSM3763530,COSM3763531;OCCURENCE=1(large_intestine) Pathogenic 9_113539185_T->A 9 113539185 113539185 T A snp 77.77 0/1 99 7 4 3 0.43 intronic rs2767011 MUSK AR NM_005592 exon10 c.107751+250T>A 0.823482 0.6597 Uncertain 9_113547001_A->C 9 113547001 113547001 A C snp 176.77 0/1 99 22 13 9 0.41 intronic rs572189 MUSK AR NM_005592 exon11 c.115910-93A>C 0.820088 0.6419 Uncertain 9_113547322_T->C 9 113547322 113547322 T C snp 963.77 1/1 72 25 0 25 1.0 intronic rs484010 MUSK AR NM_005592 exon11 c.116112+26T>C 0.970048 1 0.941811 0.9449 1 Uncertain 9_113800790_G->A 9 113800790 113800790 G A snp 3189.78 1/1 99 116 0 116 1.0 upstream rs28700160 LPAR1 AU 0.29393 0.5496 Uncertain 9_114089882_C->T 9 114089882 114089882 C T snp 2459.77 0/1 99 199 101 98 0.49 exonic rs61748723 OR2K2 AU nonsynonymous SNV NM_205859 exon1 c.G832A p.G278R 0.0866613 0.1855 0.046440 0.0886 0.1886 0.04 T 0.178 P -1.037 T 0.75 T 0.141 P Pathogenic 9_114090279_A->G 9 114090279 114090279 A G snp 2721.77 0/1 99 202 88 114 0.56 exonic rs314452 OR2K2 AU synonymous SNV NM_205859 exon1 c.T435C p.A145A 0.48742 0.498 0.557358 0.5862 0.4963 ID=COSM3763533,COSM3763534;OCCURENCE=1(thyroid),1(large_intestine) Uncertain 9_114125835_A->G 9 114125835 114125835 A G snp 1778.77 1/1 99 68 0 68 1.0 intronic rs2297524 KIAA0368 AU NM_001080398 exon2 c.1558-32A>G 0.679513 0.6845 0.703666 0.6588 0.6643 Uncertain 9_114125854_T->A 9 114125854 114125854 T A snp 978.77 0/1 99 79 37 42 0.53 intronic rs2297525 KIAA0368 AU NM_001080398 exon2 c.1558-13T>A 0.0830671 0.1845 0.043405 0.0831 0.1795 Uncertain 9_114126054_T->C 9 114126054 114126054 T C snp 256.8 1/1 21 9 0 9 1.0 intronic rs2297526 KIAA0368 AU NM_001080398 exon2 c.1630+115T>C 0.21845 0.3482 Uncertain 9_114126060_-->T 9 114126060 114126060 - T indel 113.8 1/1 18 9 0 9 1.0 intronic rs200598496 KIAA0368 AU NM_001080398 exon2 c.1630+121insT Uncertain 9_114131539_A->G 9 114131539 114131539 A G snp 195.77 0/1 99 12 4 8 0.67 intronic rs914732 KIAA0368 AU NM_001080398 exon5 c.7144+86A>G 0.096246 0.1637 Uncertain 9_114133838_C->T 9 114133838 114133838 C T snp 139.03 1/1 12 4 0 4 1.0 intronic rs1571978 KIAA0368 AU NM_001080398 exon8 c.9591-62C>T 0.211861 0.3522 Uncertain 9_114134560_G->C 9 114134560 114134560 G C snp 241.77 0/1 91 11 3 8 0.73 intronic rs16916012 KIAA0368 AU NM_001080398 exon9 c.10399-148G>C 0.0840655 0.1895 Uncertain 9_114135024_T->C 9 114135024 114135024 T C snp 50.74 1/1 6 2 0 2 1.0 intronic rs76818332 KIAA0368 AU NM_001080398 exon9 c.10591+124T>C 0.096246 0.1637 Uncertain 9_114137223_C->T 9 114137223 114137223 C T snp 80.77 0/1 99 8 4 4 0.5 intronic rs2297523 KIAA0368 AU NM_001080398 exon13 c.13083-169C>T 0.096246 0.1637 Uncertain 9_114137250_T->C 9 114137250 114137250 T C snp 178.77 0/1 99 21 12 9 0.43 intronic rs16916017 KIAA0368 AU NM_001080398 exon13 c.13083-142T>C 0.0409345 0.1637 Uncertain 9_114138702_A->G 9 114138702 114138702 A G snp 1569.77 0/1 99 143 77 66 0.46 intronic rs2274898 KIAA0368 AU NM_001080398 exon14 c.14446-53A>G 0.0840655 0.1885 0.044021 Uncertain 9_114141175_C->T 9 114141175 114141175 C T snp 349.78 1/1 27 10 0 10 1.0 intronic rs7020157 KIAA0368 AU NM_001080398 exon15 c.16701+165C>T 0.995008 1 Uncertain 9_114146683_C->T 9 114146683 114146683 C T snp 1306.77 0/1 99 102 52 50 0.49 intronic rs73656237 KIAA0368 AU NM_001080398 exon17 c.22492-118C>T 0.0958466 0.1627 Uncertain 9_114146832_C->T 9 114146832 114146832 C T snp 2151.77 0/1 99 169 77 92 0.54 exonic rs16916040 KIAA0368 AU synonymous SNV NM_001080398 exon35 c.G4185A p.A1395A 0.0960463 0.1627 0.055704 0.0351 0.1471 ID=COSM150673;OCCURENCE=1(stomach) Uncertain 9_114146940_C->T 9 114146940 114146940 C T snp 468.77 0/1 99 30 13 17 0.57 intronic rs2297528 KIAA0368 AU NM_001080398 exon17 c.22540+91C>T 0.0958466 0.1627 Uncertain 9_114148496_A->G 9 114148496 114148496 A G snp 135.03 1/1 12 4 0 4 1.0 intronic rs4978994 KIAA0368 AU NM_001080398 exon19 c.24347-160A>G 0.461661 0.3492 Uncertain 9_114152025_G->A 9 114152025 114152025 G A snp 411.77 0/1 99 40 23 17 0.42 intronic rs3737124 KIAA0368 AU NM_001080398 exon20 c.27694+22G>A 0.0958466 0.1627 0.055499 0.0364 0.1494 ID=COSN168642;OCCURENCE=1(large_intestine) Uncertain 9_114152185_C->T 9 114152185 114152185 C T snp 538.77 0/1 99 52 29 23 0.44 intronic rs3737125 KIAA0368 AU NM_001080398 exon21 c.27954-78C>T 0.096246 0.1637 ID=COSN168643;OCCURENCE=1(large_intestine) Uncertain 9_114152408_C->T 9 114152408 114152408 C T snp 955.77 0/1 99 78 41 37 0.47 intronic rs41316540 KIAA0368 AU NM_001080398 exon21 c.28072+27C>T 0.0830671 0.1845 0.041645 0.1035 0.2296 Uncertain 9_114152416_C->T 9 114152416 114152416 C T snp 2208.77 1/1 99 70 0 70 1.0 intronic rs41313313 KIAA0368 AU NM_001080398 exon21 c.28072+35C>T 0.179912 0.3472 0.097132 0.1343 0.3501 Uncertain 9_114154827_A->G 9 114154827 114154827 A G snp 35.77 0/1 64 6 4 2 0.33 intronic rs10512410 KIAA0368 AU NM_001080398 exon23 c.30738-220A>G 0.0858626 0.1974 Uncertain 9_114156283_C->T 9 114156283 114156283 C T snp 190.77 0/1 99 10 4 6 0.6 intronic rs73656240 KIAA0368 AU NM_001080398 exon25 c.32130-156C>T 0.0960463 0.1627 Uncertain 9_114170786_A->- 9 114170786 114170786 A - indel 507.73 0/1 99 64 27 37 0.58 intronic rs79202070 KIAA0368 AU NM_001080398 exon27 c.46541-64delA Uncertain 9_114173163_C->A 9 114173163 114173163 C A snp 227.84 1/1 18 7 0 7 1.0 intronic rs1029085 KIAA0368 AU NM_001080398 exon29 c.48950-96C>A 0.182907 0.3611 Uncertain 9_114174384_C->T 9 114174384 114174384 C T snp 1564.77 0/1 99 137 69 68 0.5 exonic rs16916079 KIAA0368 AU synonymous SNV NM_001080398 exon22 c.G2658A p.A886A 0.0613019 0.1637 0.024368 0.0284 0.1625 ID=COSM150674;OCCURENCE=1(stomach) Uncertain 9_114174415_T->C 9 114174415 114174415 T C snp 2919.77 1/1 99 111 0 111 1.0 exonic rs2418163 KIAA0368 AU nonsynonymous SNV NM_001080398 exon22 c.A2627G p.N876S 0.40635 0.3492 0.455681 0.4615 0.3506 1 T 1.0 P -0.967 T 0.0 T 0.0 T Pathogenic 9_114174439_-->A 9 114174439 114174439 - A indel 742.73 0/1 99 77 30 47 0.61 intronic rs146736074 KIAA0368 AU NM_001080398 exon30 c.50119+11insA 0.0898562 0.1647 0.0586 0.1678 Uncertain 9_114176163_T->C 9 114176163 114176163 T C snp 664.77 0/1 99 61 32 29 0.48 intronic rs60943638 KIAA0368 AU NM_001080398 exon31 c.51865-11T>C 0.0806709 0.1637 0.041095 0.0558 0.2807 ID=COSN168644;OCCURENCE=1(large_intestine) Uncertain 9_114178402_T->G 9 114178402 114178402 T G snp 127.03 1/1 12 5 0 5 1.0 intronic rs12338500 KIAA0368 AU NM_001080398 exon33 c.54242-149T>G 0.375599 0.3492 Uncertain 9_114182353_C->T 9 114182353 114182353 C T snp 1528.77 0/1 99 196 121 75 0.38 exonic rs16916080 KIAA0368 AU synonymous SNV NM_001080398 exon17 c.G2037A p.V679V 0.095647 0.1627 0.055648 0.0351 0.1463 ID=COSM150675;OCCURENCE=1(stomach) Uncertain 9_114184108_C->T 9 114184108 114184108 C T snp 141.03 1/1 12 5 0 5 1.0 intronic rs7038720 KIAA0368 AU NM_001080398 exon36 c.59891-92C>T 0.189097 0.3591 Uncertain 9_114184259_G->C 9 114184259 114184259 G C snp 783.77 0/1 99 66 33 33 0.5 exonic rs16916091 KIAA0368 AU nonsynonymous SNV NM_001080398 exon16 c.C1931G p.T644S 0.0289537 0.0645 0.030439 0.0385 0.0577 0.72 T 1 D -1.050 T 0.0 T 0.0 T Pathogenic 9_114184477_C->T 9 114184477 114184477 C T snp 794.77 0/1 99 60 26 34 0.57 exonic rs868405 KIAA0368 AU synonymous SNV NM_001080398 exon15 c.G1803A p.R601R 0.095647 0.1617 0.055509 0.0352 0.1457 ID=COSM150676;OCCURENCE=1(stomach) Uncertain 9_114190159_T->A 9 114190159 114190159 T A snp 59.74 1/1 6 3 0 3 1.0 intronic rs10980895 KIAA0368 AU NM_001080398 exon41 c.66012-162T>A 0.640176 0.6875 Uncertain 9_114190337_G->A 9 114190337 114190337 G A snp 930.77 0/1 99 105 62 43 0.41 exonic rs16916100 KIAA0368 AU synonymous SNV NM_001080398 exon11 c.C1569T p.F523F 0.0826677 0.1845 0.042908 0.0839 0.1803 Uncertain 9_114193045_T->C 9 114193045 114193045 T C snp 441.77 0/1 99 29 15 14 0.48 intronic rs744324 KIAA0368 AU NM_001080398 exon42 c.68599+137T>C 0.0858626 0.1974 Uncertain 9_114193106_A->C 9 114193106 114193106 A C snp 110.77 0/1 99 10 6 4 0.4 intronic rs1410298 KIAA0368 AU NM_001080398 exon42 c.68599+198A>C 0.0858626 0.1974 Uncertain 9_114195587_G->A 9 114195587 114195587 G A snp 1823.77 0/1 99 175 94 81 0.46 exonic rs2297530 KIAA0368 AU synonymous SNV NM_001080398 exon9 c.C1308T p.H436H 0.0858626 0.1984 0.042794 0.0841 0.1894 Uncertain 9_114293082_C->T 9 114293082 114293082 C T snp 50.74 1/1 6 2 0 2 1.0 intronic rs12338861 ZNF483 AU NM_133464 exon3 c.3479-72C>T Uncertain 9_114293096_A->T 9 114293096 114293096 A T snp 154.77 0/1 98 8 3 5 0.63 intronic rs75455474 ZNF483 AU NM_133464 exon3 c.3479-58A>T Uncertain 9_114301585_C->T 9 114301585 114301585 C T snp 1751.77 1/1 99 65 0 65 1.0 intronic rs10441737 ZNF483 AU NM_133464 exon6 c.14261-2351C>T 0.515575 0.4246 Uncertain 9_114305576_C->T 9 114305576 114305576 C T snp 505.77 1/1 39 16 0 16 1.0 UTR3 rs10759501 ZNF483 AU 0.736422 0.6815 Uncertain 9_114311918_G->A 9 114311918 114311918 G A snp 510.77 0/1 99 40 17 23 0.57 intronic rs76345666 ZNF483 AU NM_133464 exon6 c.17037+5206G>A 0.0706869 0.1607 Uncertain 9_114326505_T->G 9 114326505 114326505 T G snp 670.77 0/1 99 45 15 30 0.67 intronic rs2146078 PTGR1 AU NM_001146108 exon1 c.111+994T>G 0.102236 0.251 0.1053 0.2252 Uncertain 9_114348513_G->A 9 114348513 114348513 G A snp 582.77 0/1 99 39 17 22 0.56 intronic rs2273786 PTGR1 AU NM_001146109 exon6 c.36393+68G>A 0.358626 0.1815 Uncertain 9_114356367_T->C 9 114356367 114356367 T C snp 222.84 1/1 18 6 0 6 1.0 intronic rs3739704 PTGR1 AU NM_001146109 exon8 c.44449-134T>C 0.607029 0.6587 Uncertain 9_114356659_C->T 9 114356659 114356659 C T snp 1680.77 1/1 99 58 0 58 1.0 intronic rs3739703 PTGR1 AU NM_001146109 exon8 c.44495+112C>T 0.580471 0.6587 Uncertain 9_114359624_C->A 9 114359624 114359624 C A snp 1518.77 1/1 99 53 0 53 1.0 exonic rs1053959 PTGR1 AU nonsynonymous SNV NM_001146108 exon2 c.G79T p.A27S 0.597843 0.6587 0.587729 0.6010 0.6427 0.68 T 0.000 P -0.935 T 0.019 T 0.03 T ID=COSM3763535;OCCURENCE=1(large_intestine) Pathogenic 9_114366028_T->C 9 114366028 114366028 T C snp 4755.77 1/1 99 178 0 178 1.0 ncRNA_intronic rs966626 LRRC37A5P AU 0.460863 0.4266 Uncertain 9_114366094_G->C 9 114366094 114366094 G C snp 5439.77 1/1 99 211 0 211 1.0 ncRNA_intronic rs966627 LRRC37A5P AU 0.555312 0.6687 0.3949 0.6393 Uncertain 9_114366248_G->A 9 114366248 114366248 G A snp 507.77 1/1 39 14 0 14 1.0 ncRNA_intronic rs966628 LRRC37A5P AU 0.472045 0.4306 Uncertain 9_114371322_T->A 9 114371322 114371322 T A snp 2264.77 1/1 99 90 1 89 0.99 ncRNA_exonic rs4978450 LRRC37A5P AU 0.36881 0.4494 0.3303 0.4527 0 D 1.000 N -0.961 T Uncertain 9_114371493_C->T 9 114371493 114371493 C T snp 1418.77 1/1 99 47 0 47 1.0 ncRNA_exonic rs12351897 LRRC37A5P AU 0.368411 0.4474 0.3279 0.4492 0.57 T 0.998 N -0.912 T Uncertain 9_114371590_G->A 9 114371590 114371590 G A snp 50.74 1/1 6 2 0 2 1.0 ncRNA_intronic rs12351987 LRRC37A5P AU 0.36881 0.4494 0.3273 0.4487 Uncertain 9_114424187_A->G 9 114424187 114424187 A G snp 170.9 1/1 15 5 0 5 1.0 intronic rs10980998 DNAJC25-GNG10 AU NM_004125 exon2 c.35407-4907A>G 0.769169 0.9187 Uncertain 9_114449236_C->T 9 114449236 114449236 C T snp 65.77 0/1 94 11 7 4 0.36 intronic rs138856034 C9orf84 AU NM_173521 exon1 c.101+86C>T Uncertain 9_114454544_T->C 9 114454544 114454544 T C snp 2394.77 1/1 99 91 0 91 1.0 exonic rs7869279 C9orf84 AU nonsynonymous SNV NM_001080551 exon23 c.A3404G p.E1135G 0.497005 0.7728 0.434492 0.4843 0.7807 0.06 T 0.000 P -1.200 T 0.893 T 0.563 P ID=COSM3763537,COSM3763536;OCCURENCE=1(large_intestine) Pathogenic 9_114454580_A->G 9 114454580 114454580 A G snp 2272.77 1/1 99 89 0 89 1.0 exonic rs1475110 C9orf84 AU nonsynonymous SNV NM_001080551 exon23 c.T3368C p.I1123T 0.998403 1 0.997386 0.9969 1 1 T 0.0 P -1.006 T 0.0 T 0.0 T Pathogenic 9_114456322_-->TAAG 9 114456322 114456322 - TAAG indel 746.73 1/1 36 13 0 13 1.0 intronic rs113054343 C9orf84 AU NM_173521 exon3 c.7179+94insTAAG 0.639577 0.7946 Uncertain 9_114462322_A->G 9 114462322 114462322 A G snp 739.77 1/1 54 26 0 26 1.0 exonic rs6477845 C9orf84 AU nonsynonymous SNV NM_001080551 exon20 c.T2786C p.L929P 0.832468 0.9266 0.794339 0.8121 0.9261 0.33 T 0.007 P -1.093 T 0.0 T 0.0 T Pathogenic 9_114464487_T->C 9 114464487 114464487 T C snp 1037.77 1/1 75 36 1 35 0.97 exonic rs1407390 C9orf84 AU nonsynonymous SNV NM_001080551 exon19 c.A2678G p.Y893C 0.85024 0.9266 0.811316 0.8179 0.9262 0.72 T 0.000 P -1.052 T 0.0 T 0.001 T Pathogenic 9_114467448_T->C 9 114467448 114467448 T C snp 82.28 1/1 9 3 0 3 1.0 intronic rs4993590 C9orf84 AU NM_173521 exon8 c.18477-78T>C 0.43151 0.7639 Uncertain 9_114467450_T->C 9 114467450 114467450 T C snp 112.03 1/1 12 4 0 4 1.0 intronic rs2181148 C9orf84 AU NM_173521 exon8 c.18477-76T>C 0.619808 0.8859 Uncertain 9_114467478_T->C 9 114467478 114467478 T C snp 609.77 1/1 45 21 0 21 1.0 intronic rs28545063 C9orf84 AU NM_173521 exon8 c.18477-48T>C 0.411741 0.7113 0.2438 0.4240 Uncertain 9_114469078_T->G 9 114469078 114469078 T G snp 959.77 1/1 69 32 0 32 1.0 intronic rs10125413 C9orf84 AU NM_173521 exon9 c.19977+52T>G 0.828474 0.9266 0.791598 0.8128 0.9258 Uncertain 9_114469183_A->G 9 114469183 114469183 A G snp 40.77 0/1 31 3 1 2 0.67 intronic rs72750277 C9orf84 AU NM_173521 exon9 c.19977+157A>G 0.0617013 0.1409 Uncertain 9_114470127_A->G 9 114470127 114470127 A G snp 909.77 0/1 99 83 41 42 0.51 intronic rs12683681 C9orf84 AU NM_173521 exon10 c.21085-7A>G 0.0814696 0.1399 0.068713 0.0504 0.1356 Uncertain 9_114475262_T->A 9 114475262 114475262 T A snp 1464.77 1/1 99 48 0 48 1.0 intronic rs6477846 C9orf84 AU NM_173521 exon11 c.26330-117T>A 0.830272 0.9266 Uncertain 9_114480350_T->C 9 114480350 114480350 T C snp 222.77 0/1 99 18 10 8 0.44 intronic C9orf84 AU NM_173521 exon13 c.31414-113T>C Uncertain 9_114480602_C->A 9 114480602 114480602 C A snp 1825.77 1/1 99 60 0 60 1.0 intronic rs2418174 C9orf84 AU NM_173521 exon13 c.31519+34C>A 0.608626 0.879 0.506229 0.5935 0.8749 Uncertain 9_114484682_T->C 9 114484682 114484682 T C snp 2449.77 1/1 99 79 0 79 1.0 intronic rs1337581 C9orf84 AU NM_173521 exon14 c.35639-6T>C 0.827676 0.9266 0.785407 0.8067 0.9257 Uncertain 9_114489887_C->T 9 114489887 114489887 C T snp 1346.77 1/1 96 47 0 47 1.0 intronic rs953536 C9orf84 AU NM_173521 exon16 c.40863-25C>T 0.608826 0.878 0.506617 0.5947 0.8745 Uncertain 9_114490308_T->C 9 114490308 114490308 T C snp 2082.77 1/1 99 72 0 72 1.0 exonic rs7470491 C9orf84 AU nonsynonymous SNV NM_001080551 exon9 c.A1130G p.H377R 0.827676 0.9266 0.785571 0.8068 0.9256 0.64 T 0.0 P -1.017 T 0.0 T 0.001 T Pathogenic 9_114537978_A->T 9 114537978 114537978 A T snp 801.77 1/1 60 20 0 20 1.0 intronic rs440164 C9orf84 AU NM_173521 exon24 c.89021-92A>T 0.698283 0.8998 Uncertain 9_114543400_A->G 9 114543400 114543400 A G snp 1464.77 1/1 99 47 0 47 1.0 intronic rs2786632 C9orf84 AU NM_173521 exon25 c.94248+103A>G 0.851837 0.9266 Uncertain 9_114659643_A->G 9 114659643 114659643 A G snp 482.77 0/1 99 50 30 20 0.4 intronic rs3780520 UGCG AU NM_003358 exon1 c.98+50A>G 0.320288 0.2212 0.349799 0.3211 0.2024 Uncertain 9_114659661_A->T 9 114659661 114659661 A T snp 561.77 0/1 99 43 14 29 0.67 intronic rs3780519 UGCG AU NM_003358 exon1 c.98+68A>T 0.316893 0.3413 Uncertain 9_114677047_TTTTG->- 9 114677047 114677051 TTTTG - indel 3173.72 0/1 99 116 22 94 0.81 intronic rs140717465 UGCG AU NM_003358 exon2 c.17531+21_17531+25delTTTTG 0.513978 0.5744 0.4154 0.5349 Uncertain 9_114687164_G->A 9 114687164 114687164 G A snp 283.77 0/1 99 16 4 12 0.75 splicing rs80084467 UGCG AU NM_003358 exon4 c.27663+6G>A 0.123403 0.2976 0.090172 0.1394 0.3471 Pathogenic 9_114694312_A->C 9 114694312 114694312 A C snp 120.78 0/1 27 5 1 4 0.8 intronic rs34580738 UGCG AU NM_003358 exon8 c.34954-137A>C 0.469649 0.4802 Uncertain 9_114811154_C->T 9 114811154 114811154 C T snp 2737.77 1/1 99 100 0 100 1.0 ncRNA_intronic rs1980739 MIR3134 AU 0.997604 1 Uncertain 9_114825409_T->C 9 114825409 114825409 T C snp 645.77 0/1 99 51 22 29 0.57 ncRNA_intronic rs369646062 MIR3134 AU 0.000599042 0.002 Uncertain 9_114841093_T->C 9 114841093 114841093 T C snp 83.77 0/1 63 6 2 4 0.67 ncRNA_intronic MIR3134 AU Uncertain 9_114919707_A->G 9 114919707 114919707 A G snp 4385.77 1/1 99 148 2 146 0.99 ncRNA_intronic rs700105 MIR3134 AU 0.817093 0.8958 Uncertain 9_114985985_T->A 9 114985985 114985985 T A snp 44.74 1/1 6 2 0 2 1.0 ncRNA_intronic rs10817292 MIR3134 AU 0.295727 0.3502 Uncertain 9_114986021_-->AGAA 9 114986021 114986021 - AGAA indel 1755.73 1/1 78 26 0 26 1.0 ncRNA_intronic rs34621641 MIR3134 AU 0.904553 0.9097 Uncertain 9_114989616_A->G 9 114989616 114989616 A G snp 1389.77 1/1 99 36 0 36 1.0 ncRNA_intronic rs6477900 MIR3134 AU 0.867013 0.7411 Uncertain 9_114994305_-->AAG 9 114994305 114994305 - AAG indel 783.77 1/1 20 16 1 15 0.94 ncRNA_intronic rs201314842 MIR3134 AU Uncertain 9_115051546_A->G 9 115051546 115051546 A G snp 2388.77 1/1 99 88 0 88 1.0 ncRNA_intronic rs11792085 MIR3134 AU 0.86901 0.7351 Uncertain 9_115060205_C->G 9 115060205 115060205 C G snp 1314.77 1/1 93 52 0 52 1.0 ncRNA_intronic rs10981348 MIR3134 AU 0.297923 0.3532 0.260649 0.3460 0.3747 Uncertain 9_115060682_G->A 9 115060682 115060682 G A snp 573.77 1/1 45 16 0 16 1.0 ncRNA_intronic rs3808881 MIR3134 AU 0.857228 0.7351 Uncertain 9_115092624_T->A 9 115092624 115092624 T A snp 262.8 1/1 21 8 0 8 1.0 ncRNA_intronic rs2900539 MIR3134 AU 0.857228 0.7351 Uncertain 9_115095743_T->C 9 115095743 115095743 T C snp 3135.77 1/1 99 127 0 127 1.0 ncRNA_intronic rs7040447 MIR3134 AU 0.856629 0.7341 0.835313 0.8302 0.7364 ID=COSM3952227;OCCURENCE=1(lung) Uncertain 9_115142331_G->- 9 115142331 115142331 G - indel 906.73 1/1 84 28 0 28 1.0 UTR5 rs35979933 HSDL2 AU 0.950679 0.9454 Uncertain 9_115142507_A->G 9 115142507 115142507 A G snp 2962.77 1/1 99 113 0 113 1.0 intronic rs7867831 HSDL2 AU NM_032303 exon1 c.17+47A>G 1 1 0.999820 0.9998 1 Uncertain 9_115171062_T->C 9 115171062 115171062 T C snp 56.74 1/1 6 2 0 2 1.0 intronic rs10733588 HSDL2 AU NM_032303 exon4 c.28743-124T>C 0.973642 0.999 Uncertain 9_115216223_ATTA->- 9 115216223 115216226 ATTA - indel 4811.73 1/1 99 73 0 73 1.0 intronic rs10538330 HSDL2 AU NM_032303 exon9 c.73849-69_73849-66delATTA 0.951877 0.879 Uncertain 9_115216321_A->G 9 115216321 115216321 A G snp 2146.77 0/1 99 200 103 97 0.48 exonic rs3739696 HSDL2 AU synonymous SNV NM_001195822 exon7 c.A675G p.K225K 0.0255591 0.122 0.000335 0.0098 0.1290 Uncertain 9_115248932_A->G 9 115248932 115248932 A G snp 174.9 1/1 15 6 0 6 1.0 upstream rs7871916 KIAA1958 AU 0.970847 0.9653 Uncertain 9_115249262_T->C 9 115249262 115249262 T C snp 771.77 1/1 57 25 0 25 1.0 UTR5 rs6477940 KIAA1958 AU 0.9507 0.8824 0.000 P -1.045 T Uncertain 9_115249433_T->C 9 115249433 115249433 T C snp 2740.77 1/1 99 109 0 109 1.0 intronic rs7031191 KIAA1958 AU 0.951278 0.878 0.958 1 0.037 P -1.043 T Uncertain 9_115421424_G->A 9 115421424 115421424 G A snp 146.77 0/1 99 13 8 5 0.38 intronic rs4979142 KIAA1958 AU NM_133465 exon4 c.85182-118G>A 0.114018 0.0992 Uncertain 9_115421788_C->A 9 115421788 115421788 C A snp 3562.77 0/1 99 250 116 134 0.54 exonic rs16917185 KIAA1958 AU synonymous SNV NM_133465 exon4 c.C1590A p.I530I 0.10643 0.0972 0.077426 0.0640 0.1166 Uncertain 9_115450093_C->T 9 115450093 115450093 C T snp 137.03 1/1 12 5 0 5 1.0 intronic rs786970 INIP AU NM_021218 exon1 c.96+180C>T 0.986621 0.9921 Uncertain 9_115450106_T->C 9 115450106 115450106 T C snp 90.28 1/1 9 3 0 3 1.0 intronic rs786971 INIP AU NM_021218 exon1 c.96+193T>C 0.996805 1 Uncertain 9_115567015_-->TG 9 115567015 115567015 - TG indel 1629.73 1/1 99 34 0 34 1.0 intronic rs139599865 SNX30 AU NM_001012994 exon2 c.53774-40insTG 0.962859 0.998 0.934725 0.9290 0.9995 Uncertain 9_115567184_T->C 9 115567184 115567184 T C snp 2699.77 1/1 99 98 0 98 1.0 exonic rs1891402 SNX30 AU synonymous SNV NM_001012994 exon2 c.T285C p.V95V 0.958866 0.999 0.931018 0.9279 0.9994 Uncertain 9_115580008_G->C 9 115580008 115580008 G C snp 2914.77 1/1 99 105 0 105 1.0 exonic rs10117709 SNX30 AU synonymous SNV NM_001012994 exon3 c.G372C p.L124L 0.764577 0.7877 0.765643 0.7925 0.8178 Uncertain 9_115593239_G->A 9 115593239 115593239 G A snp 129.03 1/1 12 4 0 4 1.0 intronic rs10739373 SNX30 AU NM_001012994 exon4 c.79882+76G>A 0.958866 0.999 Uncertain 9_115598447_C->T 9 115598447 115598447 C T snp 517.77 1/1 39 15 0 15 1.0 intronic rs6477961 SNX30 AU NM_001012994 exon5 c.85212-46C>T 0.752596 0.7877 0.751236 0.7859 0.8187 Uncertain 9_115600623_C->T 9 115600623 115600623 C T snp 281.78 1/1 24 8 0 8 1.0 intronic rs10732374 SNX30 AU NM_001012994 exon6 c.87496-154C>T 0.752596 0.7877 Uncertain 9_115600848_T->C 9 115600848 115600848 T C snp 2388.77 1/1 99 85 0 85 1.0 exonic rs7023478 SNX30 AU synonymous SNV NM_001012994 exon6 c.T885C p.A295A 0.991813 1 0.979191 0.9806 1 Uncertain 9_115628533_T->C 9 115628533 115628533 T C snp 258.8 1/1 21 7 0 7 1.0 intronic rs7869100 SNX30 AU NM_001012994 exon8 c.113398+1854T>C 0.956869 0.999 Uncertain 9_115649520_C->T 9 115649520 115649520 C T snp 510.77 0/1 99 42 24 18 0.43 intronic rs3802493 SLC46A2 AU NM_033051 exon3 c.7568-89C>T 0.286342 0.6012 Uncertain 9_115652836_G->A 9 115652836 115652836 G A snp 666.77 0/1 99 84 54 30 0.36 exonic rs3802492 SLC46A2 AU synonymous SNV NM_033051 exon1 c.C126T p.L42L 0.28115 0.0982 0.343380 0.2959 0.1029 ID=COSM3763540;OCCURENCE=3(large_intestine) Uncertain 9_115652881_G->T 9 115652881 115652881 G T snp 863.77 0/1 99 53 19 34 0.64 exonic rs3802491 SLC46A2 AU synonymous SNV NM_033051 exon1 c.C81A p.A27A 0.418131 0.746 0.297632 0.4081 0.7501 ID=COSM3763541;OCCURENCE=1(thyroid),1(large_intestine) Uncertain 9_115760587_G->A 9 115760587 115760587 G A snp 1875.77 1/1 99 68 0 68 1.0 UTR5 rs7036363 ZNF883 AU 0.275759 0.371 0.139018 0.2069 0.3932 Uncertain 9_115760610_T->A 9 115760610 115760610 T A snp 1370.77 1/1 99 43 0 43 1.0 UTR5 rs11971 ZNF883 AU 0.435503 0.37 Uncertain 9_115811835_G->C 9 115811835 115811835 G C snp 976.77 0/1 99 125 82 43 0.34 intronic rs2274761 ZFP37 AU NM_001282518 exon2 c.6772+59G>C 0.442492 0.4018 Uncertain 9_115818949_A->T 9 115818949 115818949 A T snp 1075.77 0/1 99 88 47 41 0.47 exonic rs2282076 ZFP37 AU nonsynonymous SNV NM_001282515 exon1 c.T20A p.V7D 0.495208 0.5288 0.537598 0.5576 0.5146 0.23 T 0.0 P -0.990 T 0.0 T 0.0 T Pathogenic 9_115873890_G->C 9 115873890 115873890 G C snp 4943.77 1/1 99 235 24 211 0.9 ncRNA_exonic rs80016582 FAM225B AU 0.141573 0.1855 0.2849 0.4545 Uncertain 9_115913145_T->C 9 115913145 115913145 T C snp 84.28 1/1 9 3 0 3 1.0 upstream rs4602967 SLC31A2 AU 0.777356 0.875 Uncertain 9_115913546_G->A 9 115913546 115913546 G A snp 301.77 0/1 99 32 17 15 0.47 intronic rs76861708 SLC31A2 AU NM_001860 exon1 c.6+186G>A 0.119409 0.2192 Uncertain 9_115918144_G->A 9 115918144 115918144 G A snp 116.77 0/1 99 9 5 4 0.44 intronic rs11791765 SLC31A2 AU NM_001860 exon2 c.6652-1862G>A 0.289337 0.2024 Uncertain 9_115918220_C->A 9 115918220 115918220 C A snp 735.77 0/1 99 45 12 33 0.73 intronic rs10817447 SLC31A2 AU NM_001860 exon2 c.6652-1786C>A 0.321685 0.1984 Uncertain 9_115918306_G->A 9 115918306 115918306 G A snp 1091.77 0/1 99 72 26 46 0.64 intronic rs10121117 SLC31A2 AU NM_001860 exon2 c.6652-1700G>A 0.386182 0.1994 0.486223 0.4523 0.2065 Uncertain 9_115919885_G->C 9 115919885 115919885 G C snp 37.77 0/1 66 6 4 2 0.33 intronic rs10122151 SLC31A2 AU NM_001860 exon2 c.6652-121G>C 0.234824 0.1617 Uncertain 9_115920099_T->C 9 115920099 115920099 T C snp 897.77 0/1 99 73 29 44 0.6 intronic rs4344146 SLC31A2 AU NM_001860 exon2 c.6719+26T>C 0.601238 0.5952 0.609722 0.5838 0.6185 Uncertain 9_115925104_C->T 9 115925104 115925104 C T snp 894.77 0/1 99 73 31 42 0.58 exonic rs3810906 SLC31A2 AU synonymous SNV NM_001860 exon4 c.C339T p.A113A 0.311502 0.4067 0.242483 0.2814 0.4408 Uncertain 9_115928275_T->C 9 115928275 115928275 T C snp 1275.77 1/1 93 41 0 41 1.0 UTR3 rs3810908 FKBP15 AU 0.835663 0.8671 Uncertain 9_115928566_A->C 9 115928566 115928566 A C snp 217.77 0/1 99 11 4 7 0.64 intronic rs16910202 FKBP15 AU NM_015258 exon1 c.78+131A>C 0.283746 0.1617 Uncertain 9_115931703_G->A 9 115931703 115931703 G A snp 2065.77 0/1 99 189 103 86 0.46 exonic rs3810910 FKBP15 AU synonymous SNV NM_015258 exon26 c.C3286T p.L1096L 0.283546 0.1617 0.318862 0.3015 0.1712 Uncertain 9_115932299_T->A 9 115932299 115932299 T A snp 575.77 0/1 99 51 28 23 0.45 intronic rs7865125 FKBP15 AU NM_015258 exon3 c.3865+77T>A 0.261981 0.1617 Uncertain 9_115934022_-->ACCTGGATT 9 115934022 115934022 - ACCTGGATT indel 4321.73 1/1 99 40 0 40 1.0 intronic rs5900041 FKBP15 AU NM_015258 exon5 c.5629+36insACCTGGATT 0.838059 0.8671 0.804156 0.8036 0.8491 Uncertain 9_115936903_A->G 9 115936903 115936903 A G snp 2269.77 1/1 99 86 0 86 1.0 intronic rs3827673 FKBP15 AU NM_015258 exon7 c.8506+40A>G 0.449081 0.751 0.347997 0.4195 0.7765 Uncertain 9_115946500_A->G 9 115946500 115946500 A G snp 1106.77 0/1 99 84 38 46 0.55 intronic rs10817454 FKBP15 AU NM_015258 exon12 c.18214-71A>G 0.29972 0.1617 Uncertain 9_115946892_T->A 9 115946892 115946892 T A snp 2899.77 0/1 99 250 127 123 0.49 intronic rs10118429 FKBP15 AU NM_015258 exon13 c.18617-82T>A 0.278355 0.1617 Uncertain 9_115950156_G->A 9 115950156 115950156 G A snp 1317.77 0/1 99 167 101 66 0.4 exonic rs10465129 FKBP15 AU nonsynonymous SNV NM_015258 exon14 c.C1300T p.L434F 0.122005 0.2183 0.049685 0.1004 0.2341 0.12 T 0.734 P -1.085 T 0.029 T 0.032 T Pathogenic 9_115950706_A->C 9 115950706 115950706 A C snp 3668.77 1/1 99 137 0 137 1.0 exonic rs10435864 FKBP15 AU nonsynonymous SNV NM_015258 exon13 c.T1239G p.H413Q 0.526957 0.4345 0.554237 0.5643 0.4617 1 T 0.000 P -0.920 T 0.0 T 0.0 T Pathogenic 9_115950900_G->A 9 115950900 115950900 G A snp 183.77 0/1 99 16 9 7 0.44 intronic rs78381705 FKBP15 AU NM_015258 exon16 c.22414+129G>A 0.122005 0.2183 Uncertain 9_115952895_T->C 9 115952895 115952895 T C snp 897.77 0/1 99 105 62 43 0.41 intronic rs12684417 FKBP15 AU NM_015258 exon17 c.24501+37T>C 0.280351 0.1617 0.321530 0.3443 0.2043 Uncertain 9_115964664_T->C 9 115964664 115964664 T C snp 54.74 1/1 6 2 0 2 1.0 intronic rs12380325 FKBP15 AU NM_015258 exon23 c.36453-146T>C 0.29972 0.3294 Uncertain 9_115965339_G->A 9 115965339 115965339 G A snp 38.77 0/1 67 45 40 5 0.11 intronic FKBP15 AU NM_015258 exon24 c.36958+24G>A Uncertain 9_115968609_C->T 9 115968609 115968609 C T snp 178.77 0/1 99 16 10 6 0.38 intronic rs4281172 FKBP15 AU NM_015258 exon25 c.40431-179C>T 0.613019 0.4067 Uncertain 9_115969433_-->AGA 9 115969433 115969433 - AGA indel 1362.73 0/1 99 59 33 26 0.44 intronic rs5900043 FKBP15 AU NM_015258 exon26 c.41134-58insAGA 0.613419 0.4077 0.707563 Uncertain 9_116130371_T->C 9 116130371 116130371 T C snp 139.03 1/1 12 4 0 4 1.0 intronic rs7854353 BSPRY AU NM_017688 exon5 c.18679-167T>C 0.786142 0.9752 Uncertain 9_116136198_C->T 9 116136198 116136198 C T snp 3164.77 0/1 99 250 110 140 0.56 exonic rs1043836 HDHD3 AU nonsynonymous SNV NM_001304511 exon2 c.G437A p.G146E 0.586861 0.4663 0.602799 0.6154 0.4621 0.98 T 0.0 P -0.991 T 0.0 T 0.001 T ID=COSM4163233;OCCURENCE=2(thyroid) Pathogenic 9_116153891_C->G 9 116153891 116153891 C G snp 1986.77 0/1 99 194 106 88 0.45 exonic rs1800435 ALAD AR nonsynonymous SNV NM_000031 exon4 c.G177C p.K59N 0.0634984 0.0397 0.060203 0.0827 0.0384 0.83 T 1.000 N -0.967 T 0.0 T 0.0 T CLINSIG=non-pathogenic;CLNDBN=AMINOLEVULINATE_DEHYDRATASE\x2c_ALAD*1/ALAD*2_POLYMORPHISM;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000018360.1;CLNDSDB=.;CLNDSDBID=. ID=COSM3763548,COSM3763550,COSM3763549;OCCURENCE=1(thyroid),1(large_intestine) ID=CM057644;DIS=Amyotrophic lateral sclerosis, increased risk, association with;TAG=DP;PUB=16909025 DP Pathogenic 9_116191187_C->T 9 116191187 116191187 C T snp 1511.77 0/1 99 124 61 63 0.51 exonic rs143283507 C9orf43 AU nonsynonymous SNV NM_001278629 exon13 c.C1115T p.T372M 0.00858626 0.002 0.011994 0.0107 0.0049 0.04 T 1 N -1.046 T 0.645 T 0.096 P Pathogenic 9_116268581_G->A 9 116268581 116268581 G A snp 533.77 0/1 99 55 28 27 0.49 intronic rs10981799 RGS3 AU NM_017790 exon10 c.42585-86G>A 0.0117812 0.0565 Uncertain 9_116356373_G->C 9 116356373 116356373 G C snp 6649.77 1/1 99 236 0 236 1.0 exonic rs12350531 RGS3 AU synonymous SNV NM_144489 exon1 c.G174C p.L58L 0.742212 0.879 0.683308 0.7242 0.8713 Uncertain 9_116356516_A->G 9 116356516 116356516 A G snp 5150.77 1/1 99 189 0 189 1.0 exonic rs12341266 RGS3 AU nonsynonymous SNV NM_144489 exon1 c.A317G p.Y106C 0.956869 1 0.913936 0.9258 1 1 T 0.000 P -0.927 T 0.0 T 0.0 T ID=COSM4163249;OCCURENCE=1(thyroid) Pathogenic 9_116356529_C->G 9 116356529 116356529 C G snp 5194.77 1/1 99 192 0 192 1.0 exonic rs10817493 RGS3 AU nonsynonymous SNV NM_144489 exon1 c.C330G p.C110W 0.835863 0.9881 0.745115 0.7857 0.9929 0.09 T 0.000 P -0.987 T 0.0 T 0.0 T ID=COSM4163250;OCCURENCE=1(thyroid) Pathogenic 9_116357408_C->T 9 116357408 116357408 C T snp 547.77 1/1 42 18 0 18 1.0 intronic rs884992 RGS3 AU NM_134427 exon3 c.541+148C>T 0.698283 0.6181 Uncertain 9_116359339_T->C 9 116359339 116359339 T C snp 1382.77 1/1 99 37 0 37 1.0 UTR3 rs1051013 RGS3 AU 0.84345 0.9881 Uncertain 9_116764087_C->G 9 116764087 116764087 C G snp 337.78 1/1 27 9 0 9 1.0 intronic rs814704 ZNF618 AU NM_133374 exon4 c.125615-188C>G 0.929712 1 Uncertain 9_116764283_C->T 9 116764283 116764283 C T snp 3019.77 0/1 99 250 121 129 0.52 exonic rs4978561 ZNF618 AU synonymous SNV NM_133374 exon4 c.C345T p.Y115Y 0.330272 0.6022 0.274556 0.3641 0.6208 ID=COSM3763555,COSM3763553,COSM3763554;OCCURENCE=2(large_intestine) Uncertain 9_116764883_-->CT 9 116764883 116764883 - CT indel 1640.73 0/1 99 118 62 56 0.47 intronic rs3034072 ZNF618 AU NM_133374 exon5 c.126243-20insCT 0.335463 0.5873 0.3574 0.5921 Uncertain 9_116765062_G->T 9 116765062 116765062 G T snp 338.77 0/1 99 17 5 12 0.71 intronic rs942286 ZNF618 AU NM_133374 exon5 c.126282+120G>T 0.303115 0.6002 Uncertain 9_116769515_C->T 9 116769515 116769515 C T snp 1167.77 0/1 99 102 52 50 0.49 intronic rs4979321 ZNF618 AU NM_133374 exon6 c.130969-114C>T 0.507788 0.6131 Uncertain 9_116770776_C->T 9 116770776 116770776 C T snp 2233.77 0/1 99 168 71 97 0.58 exonic rs3748183 ZNF618 AU synonymous SNV NM_133374 exon8 c.C600T p.V200V 0.303315 0.5962 0.256870 0.3498 0.6075 ID=COSM3763557,COSM3763558,COSM3763556;OCCURENCE=1(large_intestine) Uncertain 9_116770785_G->A 9 116770785 116770785 G A snp 2192.77 0/1 99 179 84 95 0.53 exonic rs3748182 ZNF618 AU synonymous SNV NM_133374 exon8 c.G609A p.T203T 0.303914 0.5962 0.256719 0.3503 0.6067 Uncertain 9_116770918_G->A 9 116770918 116770918 G A snp 525.77 0/1 99 63 40 23 0.37 intronic rs10817552 ZNF618 AU NM_133374 exon8 c.132174+84G>A 0.305711 0.6042 Uncertain 9_116778269_A->G 9 116778269 116778269 A G snp 350.77 0/1 99 28 10 18 0.64 intronic rs4979324 ZNF618 AU NM_133374 exon9 c.139732-123A>G 0.545927 0.6617 Uncertain 9_116794784_A->G 9 116794784 116794784 A G snp 373.77 0/1 99 24 11 13 0.54 intronic rs2116407 ZNF618 AU NM_133374 exon11 c.156267-143A>G 0.544129 0.6379 Uncertain 9_116823490_G->T 9 116823490 116823490 G T snp 918.77 0/1 99 68 34 34 0.5 intronic rs56699313 AMBP AU NM_001633 exon2 c.860+112G>T 0.221845 0.2093 Uncertain 9_116835530_C->T 9 116835530 116835530 C T snp 44.74 1/1 6 2 0 2 1.0 intronic rs10982056 AMBP AU NM_001633 exon6 c.12788+224C>T Uncertain 9_116856889_A->G 9 116856889 116856889 A G snp 766.77 1/1 57 22 0 22 1.0 intronic rs1465660 KIF12 AU NM_138424 exon8 c.2595+154A>G 0.982228 1 Uncertain 9_116857656_T->C 9 116857656 116857656 T C snp 2472.77 1/1 99 89 0 89 1.0 intronic rs7036734 KIF12 AU NM_138424 exon10 c.3472+44T>C 0.60603 0.7083 0.516544 0.5754 0.6956 Uncertain 9_116858625_T->G 9 116858625 116858625 T G snp 6384.77 1/1 99 230 1 229 1.0 intronic rs6478062 KIF12 AU NM_138424 exon12 c.4526-41T>G 0.760383 0.7014 0.745425 0.7209 0.6946 Uncertain 9_116859769_T->C 9 116859769 116859769 T C snp 2710.77 1/1 99 79 0 79 1.0 intronic rs3810929 KIF12 AU NM_138424 exon13 c.5576+53T>C 0.730032 0.7073 Uncertain 9_116861654_C->T 9 116861654 116861654 C T snp 3839.77 1/1 99 120 0 120 1.0 upstream rs13288531 KIF12 AU 0.149161 0.4494 Uncertain 9_116861763_G->A 9 116861763 116861763 G A snp 88.28 1/1 9 3 0 3 1.0 upstream rs1886128 KIF12 AU 0.722843 0.6944 Uncertain 9_116918394_A->G 9 116918394 116918394 A G snp 1170.77 0/1 99 111 58 53 0.48 intronic rs7860877 COL27A1 AR NM_032888 exon1 c.62+102A>G 0.260583 0.4861 Uncertain 9_116929802_C->T 9 116929802 116929802 C T snp 34.77 0/1 31 3 1 2 0.67 intronic rs57113194 COL27A1 AR NM_032888 exon3 c.11738-166C>T 0.0459265 0.1161 Uncertain 9_116930194_A->G 9 116930194 116930194 A G snp 1427.77 0/1 99 158 96 62 0.39 exonic rs2567706 COL27A1 AR nonsynonymous SNV NM_032888 exon3 c.A359G p.Q120R 0.211661 0.1329 0.286297 0.2383 0.1606 1 T 0.000 P -0.951 T 0.0 T 0.0 T ID=COSM3763561;OCCURENCE=1(thyroid),1(large_intestine) Pathogenic 9_116931099_G->A 9 116931099 116931099 G A snp 3403.77 0/1 99 250 105 145 0.58 exonic rs2241671 COL27A1 AR nonsynonymous SNV NM_032888 exon3 c.G1264A p.A422T 0.376398 0.5129 0.398739 0.4086 0.5568 1 T 0.0 P -1.020 T 0.003 T 0.002 T Pathogenic 9_116931445_T->C 9 116931445 116931445 T C snp 3311.77 0/1 99 250 119 131 0.52 exonic rs2808770 COL27A1 AR nonsynonymous SNV NM_032888 exon3 c.T1610C p.I537T 0.217851 0.1339 0.290328 0.2431 0.1606 0.79 T 0.0 P -1.097 T 0.0 T 0.0 T Pathogenic 9_116931666_A->T 9 116931666 116931666 A T snp 1855.77 0/1 99 160 84 76 0.47 exonic rs2567705 COL27A1 AR nonsynonymous SNV NM_032888 exon3 c.A1831T p.I611F 0.290935 0.1151 0.386898 0.3403 0.1317 1 T 0.000 P -1.008 T 0.0 T 0.0 T ID=COSM3763562;OCCURENCE=1(large_intestine) Pathogenic 9_116931737_C->T 9 116931737 116931737 C T snp 1770.77 0/1 99 152 76 76 0.5 exonic rs2808771 COL27A1 AR synonymous SNV NM_032888 exon3 c.C1902T p.G634G 0.215256 0.1339 0.287648 0.2479 0.1621 ID=COSM3763563;OCCURENCE=1(large_intestine) Uncertain 9_116945381_A->G 9 116945381 116945381 A G snp 218.77 0/1 99 21 11 10 0.48 intronic rs41306500 COL27A1 AR NM_032888 exon5 c.27125+26A>G 0.159545 0.1548 0.161848 0.1796 0.1673 Uncertain 9_116945454_A->C 9 116945454 116945454 A C snp 99.28 1/1 9 3 0 3 1.0 intronic rs10759688 COL27A1 AR NM_032888 exon5 c.27125+99A>C 0.841054 0.9613 Uncertain 9_116968494_C->A 9 116968494 116968494 C A snp 2109.77 0/1 99 200 102 98 0.49 intronic rs57925371 COL27A1 AR NM_032888 exon10 c.50301-37C>A 0.00519169 0.0258 0.0021 0.0282 Uncertain 9_116971622_G->C 9 116971622 116971622 G C snp 331.78 1/1 27 9 0 9 1.0 intronic rs2060133 COL27A1 AR NM_032888 exon11 c.53724-332G>C 0.399561 0.626 Uncertain 9_116973361_C->T 9 116973361 116973361 C T snp 4828.77 1/1 99 177 1 176 0.99 intronic rs10982109 COL27A1 AR NM_032888 exon12 c.55076+55C>T 0.315096 0.6161 0.203679 Uncertain 9_117013167_C->G 9 117013167 117013167 C G snp 264.8 1/1 21 7 0 7 1.0 intronic rs2808799 COL27A1 AR NM_032888 exon25 c.94718+219C>G 0.466653 0.755 Uncertain 9_117026581_C->G 9 117026581 117026581 C G snp 575.77 0/1 99 50 30 20 0.4 intronic rs4978576 COL27A1 AR NM_032888 exon29 c.108404-53C>G 0.785144 0.6389 0.818222 Uncertain 9_117028968_C->T 9 117028968 117028968 C T snp 1520.77 0/1 99 137 70 67 0.49 intronic rs35380914 COL27A1 AR NM_032888 exon33 c.110668+70C>T 0.109625 0.2083 0.077092 Uncertain 9_117033096_C->T 9 117033096 117033096 C T snp 1846.77 0/1 99 210 122 88 0.42 intronic rs2636866 COL27A1 AR NM_032888 exon36 c.114831+35C>T 0.788538 0.6121 0.835153 0.7805 0.6092 Uncertain 9_117037820_A->G 9 117037820 117037820 A G snp 764.77 0/1 99 60 28 32 0.53 intronic rs10513241 COL27A1 AR NM_032888 exon37 c.119710-120A>G 0.298922 0.3254 Uncertain 9_117044458_A->G 9 117044458 117044458 A G snp 336.77 0/1 99 20 9 11 0.55 intronic rs1628968 COL27A1 AR NM_032888 exon38 c.126326-98A>G 0.251398 0.3512 Uncertain 9_117044538_G->T 9 117044538 117044538 G T snp 790.77 0/1 99 79 44 35 0.44 intronic rs2636879 COL27A1 AR NM_032888 exon38 c.126326-18G>T 0.300519 0.3522 0.326003 0.3295 0.3525 Uncertain 9_117044751_T->C 9 117044751 117044751 T C snp 3527.77 1/1 99 119 0 119 1.0 exonic rs2787330 COL27A1 AR synonymous SNV NM_032888 exon39 c.T3786C p.Y1262Y 0.854034 1 0.784824 0.8311 0.9998 Uncertain 9_117046170_G->A 9 117046170 117046170 G A snp 845.77 0/1 99 70 39 31 0.44 intronic rs1565502 COL27A1 AR NM_032888 exon40 c.127812+128G>A 0.197085 0.3353 Uncertain 9_117050998_G->A 9 117050998 117050998 G A snp 5810.77 1/1 99 223 1 222 1.0 exonic rs10982134 COL27A1 AR nonsynonymous SNV NM_032888 exon43 c.G4061A p.R1354Q 0.423722 0.629 0.300477 0.3927 0.6608 0.67 T 0.964 P -0.947 T 0.016 T 0.004 T Pathogenic 9_117051586_C->G 9 117051586 117051586 C G snp 2453.77 1/1 99 91 0 91 1.0 intronic rs72762675 COL27A1 AR NM_032888 exon45 c.133345+11C>G 0.466054 0.6349 0.306818 0.4611 0.6640 Uncertain 9_117051659_A->G 9 117051659 117051659 A G snp 1033.77 0/1 99 80 34 46 0.57 intronic rs72764529 COL27A1 AR NM_032888 exon45 c.133345+84A>G 0.142372 0.2609 Uncertain 9_117052738_-->T 9 117052738 117052738 - T indel 328.74 1/1 27 10 0 10 1.0 intronic rs11386651 COL27A1 AR NM_032888 exon47 c.134381+127insT 0.738818 0.9325 Uncertain 9_117052772_C->A 9 117052772 117052772 C A snp 96.28 1/1 9 3 0 3 1.0 intronic rs7018988 COL27A1 AR NM_032888 exon47 c.134381+161C>A 0.445088 0.63 Uncertain 9_117053215_A->G 9 117053215 117053215 A G snp 3421.77 1/1 99 138 0 138 1.0 intronic rs1249738 COL27A1 AR NM_032888 exon48 c.134967+18A>G 0.528355 0.6329 0.371773 0.4652 0.6396 Uncertain 9_117053273_T->G 9 117053273 117053273 T G snp 2920.77 1/1 99 112 0 112 1.0 intronic rs1249737 COL27A1 AR NM_032888 exon48 c.134967+76T>G 0.52516 0.6329 Uncertain 9_117062322_G->A 9 117062322 117062322 G A snp 4629.77 1/1 99 186 0 186 1.0 intronic rs12237679 COL27A1 AR NM_032888 exon50 c.144119-27G>A 0.0988419 0.2054 0.049592 0.0606 0.2294 Uncertain 9_117064405_C->G 9 117064405 117064405 C G snp 871.77 0/1 99 77 39 38 0.49 intronic rs10817586 COL27A1 AR NM_032888 exon56 c.146158+17C>G 0.215855 0.0675 0.304167 0.3294 0.0701 Uncertain 9_117064559_C->A 9 117064559 117064559 C A snp 139.03 1/1 12 4 0 4 1.0 intronic rs1249753 COL27A1 AR NM_032888 exon56 c.146158+171C>A 0.443091 0.3155 Uncertain 9_117066823_C->T 9 117066823 117066823 C T snp 3715.77 1/1 99 126 0 126 1.0 intronic rs10817590 COL27A1 AR NM_032888 exon57 c.148657-64C>T 0.29373 0.3065 0.359834 0.3943 0.3087 Uncertain 9_117073006_C->T 9 117073006 117073006 C T snp 591.77 0/1 99 38 17 21 0.55 UTR3 rs1249756 COL27A1 AR 0.641573 0.6161 0.622097 0.6038 0.6034 Uncertain 9_117085526_G->A 9 117085526 117085526 G A snp 988.77 0/1 99 122 63 59 0.48 exonic rs17650 ORM1 AU nonsynonymous SNV NM_000607 exon1 c.G113A p.R38Q 0.6486 0.7470 0.38 T 0.000 P -0.992 T ID=COSM3847448,COSM3847447;OCCURENCE=1(breast),1(thyroid) Pathogenic 9_117085635_T->C 9 117085635 117085635 T C snp 698.77 0/1 99 77 49 28 0.36 intronic rs1687381 ORM1 AU NM_000607 exon1 c.114+108T>C 0.737021 0.8502 0.6942 0.8631 ID=COSM4163260;OCCURENCE=2(thyroid) Uncertain 9_117086226_A->G 9 117086226 117086226 A G snp 2323.77 0/1 99 209 106 103 0.49 intronic rs1111796 ORM1 AU NM_000607 exon3 c.884-71A>G 0.73143 0.8482 Uncertain 9_117086484_A->G 9 117086484 117086484 A G snp 38.78 0/1 27 3 1 2 0.67 intronic rs544987487 ORM1 AU NM_000607 exon3 c.955+116A>G 0.000399361 0.002 Uncertain 9_117093729_A->G 9 117093729 117093729 A G snp 435.77 0/1 99 29 15 14 0.48 intronic rs10759691 ORM2 AU NM_000608 exon4 c.1662-117A>G 0.380391 0.5933 Uncertain 9_117103973_A->G 9 117103973 117103973 A G snp 205.77 0/1 99 31 22 9 0.29 exonic rs2250242 AKNA AU nonsynonymous SNV NM_030767 exon21 c.T3907C p.S1303P 0.610224 0.6131 0.592803 0.5320 0.5896 0.38 T 0.0 P -1.067 T 0.0 T 0.0 T ID=COSM4007028;OCCURENCE=1(urinary_tract) Pathogenic 9_117106190_C->T 9 117106190 117106190 C T snp 1255.77 0/1 99 89 39 50 0.56 intronic rs3748179 AKNA AU NM_030767 exon4 c.6750+107C>T 0.38119 0.5595 Uncertain 9_117121840_A->C 9 117121840 117121840 A C snp 4731.77 1/1 99 172 0 172 1.0 intronic rs2787348 AKNA AU NM_030767 exon12 c.22540-33A>C 0.89377 0.9365 0.834692 0.8278 0.9475 Uncertain 9_117122202_C->T 9 117122202 117122202 C T snp 1595.77 0/1 99 189 124 65 0.34 exonic rs3748177 AKNA AU synonymous SNV NM_030767 exon10 c.G2265A p.E755E 0.389976 0.3869 0.418653 0.4867 0.3984 Uncertain 9_117124519_A->T 9 117124519 117124519 A T snp 260.77 0/1 99 23 11 12 0.52 intronic rs2636901 AKNA AU NM_030767 exon15 c.25352-166A>T 0.499601 0.3869 Uncertain 9_117124731_G->A 9 117124731 117124731 G A snp 1952.77 0/1 99 144 61 83 0.58 exonic rs3748176 AKNA AU nonsynonymous SNV NM_030767 exon8 c.C1871T p.P624L 0.384185 0.3869 0.415039 0.5021 0.4127 0.79 T 0.0 P -0.930 T 0.618 T 0.138 P Pathogenic 9_117127034_C->G 9 117127034 117127034 C G snp 425.77 1/1 33 13 0 13 1.0 intronic rs2787351 AKNA AU NM_030767 exon16 c.27566+135C>G 0.890575 0.9365 Uncertain 9_117150070_G->A 9 117150070 117150070 G A snp 625.77 0/1 99 52 27 25 0.48 intronic rs1324632 AKNA AU NM_030767 exon21 c.44393+6344G>A 0.322085 0.4048 Uncertain 9_117150302_C->T 9 117150302 117150302 C T snp 947.77 0/1 99 65 23 42 0.65 intronic rs1886377 AKNA AU NM_030767 exon22 c.57303-6334C>T 0.167931 0.125 Uncertain 9_117165172_G->T 9 117165172 117165172 G T snp 1189.77 0/1 99 92 44 48 0.52 exonic rs117592152 DFNB31 AU nonsynonymous SNV NM_015404 exon12 c.C2586A p.H862Q 0.0167732 0.0804 0.000231 0.0062 0.0813 0.37 T 1 D -0.965 T 0.548 P 0.353 P CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_multiple_submitters\x2c_no_conflicts;CLNACC=RCV000038894.4;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 9_117165737_C->T 9 117165737 117165737 C T snp 161.77 0/1 90 9 3 6 0.67 intronic rs55833018 DFNB31 AU NM_001173425 exon2 c.586+118C>T 0.181709 0.127 Uncertain 9_117166246_A->G 9 117166246 117166246 A G snp 1938.77 0/1 99 135 52 83 0.61 exonic rs2274159 DFNB31 AU nonsynonymous SNV NM_015404 exon10 c.T2348C p.V783A 0.40635 0.4742 0.410734 0.4786 0.4632 1 T 0.0 P -0.946 T 0.0 T 0.001 T CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000038890.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 ID=COSM4163263,COSM4163262;OCCURENCE=2(thyroid) Pathogenic 9_117166338_G->C 9 117166338 117166338 G C snp 3147.77 1/1 99 121 0 121 1.0 exonic rs6478078 DFNB31 AU nonsynonymous SNV NM_015404 exon10 c.C2256G p.H752Q 0.991014 1 0.993541 0.9980 1 1 T 1.0 P -0.994 T 0.0 T 0.0 T CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000154362.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 9_117168551_C->A 9 117168551 117168551 C A snp 899.77 0/1 99 53 21 32 0.6 intronic rs10982200 DFNB31 AU NM_001173425 exon4 c.3601-83C>A 0.404752 0.4722 Uncertain 9_117169033_A->G 9 117169033 117169033 A G snp 1075.77 0/1 99 76 37 39 0.51 exonic rs942519 DFNB31 AU nonsynonymous SNV NM_015404 exon9 c.T1838C p.M613T 0.481629 0.503 0.492002 0.5311 0.5075 0.56 T 0.000 P -0.986 T 0.0 T 0.0 T CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_multiple_submitters\x2c_no_conflicts;CLNACC=RCV000038881.5;CLNDSDB=MedGen;CLNDSDBID=CN169374 ID=COSM3774352,COSM3774351;OCCURENCE=1(kidney) Pathogenic 9_117169300_A->G 9 117169300 117169300 A G snp 86.77 0/1 30 4 1 3 0.75 intronic rs2236388 DFNB31 AU NM_001173425 exon4 c.4139+128A>G 0.778754 0.5813 Uncertain 9_117186677_A->G 9 117186677 117186677 A G snp 1325.77 1/1 96 43 0 43 1.0 exonic rs4979387 DFNB31 AU synonymous SNV NM_015404 exon6 c.T1353C p.G451G 0.830072 0.9395 0.762110 0.7941 0.9403 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_multiple_submitters\x2c_no_conflicts;CLNACC=RCV000038868.5;CLNDSDB=MedGen;CLNDSDBID=CN169374 ID=COSM4007030,COSM4007029;OCCURENCE=1(urinary_tract) Uncertain 9_117188566_C->T 9 117188566 117188566 C T snp 1584.77 1/1 99 57 0 57 1.0 exonic rs10817610 DFNB31 AU nonsynonymous SNV NM_015404 exon4 c.G1091A p.R364H 0.977236 1 0.980624 0.9942 1 1 T 1.0 P -0.979 T 0.0 T 0.0 T CLINSIG=non-pathogenic,non-pathogenic;CLNDBN=not_specified,not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter,criteria_provided\x2c_single_submitter;CLNACC=RCV000154365.1,RCV000038858.2;CLNDSDB=MedGen,MedGen;CLNDSDBID=CN169374,CN169374 Pathogenic 9_117354943_A->G 9 117354943 117354943 A G snp 534.77 0/1 99 69 43 26 0.38 intronic rs2274595 ATP6V1G1 AU NM_004888 exon2 c.4814+11A>G 0.158147 0.3155 0.063849 0.1540 0.4143 Uncertain 9_117389478_C->G 9 117389478 117389478 C G snp 467.77 1/1 36 12 0 12 1.0 intronic rs1536737 C9orf91 AU NM_153045 exon4 c.9811+192C>G 0.86901 0.9315 Uncertain 9_117390300_C->A 9 117390300 117390300 C A snp 357.77 0/1 99 34 20 14 0.41 intronic rs7031094 C9orf91 AU NM_153045 exon5 c.10905-80C>A 0.614018 0.6706 Uncertain 9_117396237_C->T 9 117396237 117396237 C T snp 771.77 0/1 99 75 41 34 0.45 intronic rs3810935 C9orf91 AU NM_153045 exon6 c.16683+79C>T 0.191893 0.1379 Uncertain 9_117428960_T->C 9 117428960 117428960 T C snp 2081.77 1/1 99 83 0 83 1.0 exonic rs1055207 LOC100505478 AU nonsynonymous SNV NM_001199233 exon5 c.A326G p.H109R 0.678115 0.5625 0.5484 0.6364 Pathogenic 9_117430381_C->T 9 117430381 117430381 C T snp 40.77 0/1 31 3 1 2 0.67 intronic rs11793018 LOC100505478 AU NM_001199233 exon2 c.1563-104C>T 0.0497204 0.0456 Uncertain 9_117430611_A->T 9 117430611 117430611 A T snp 4740.77 1/1 99 168 0 168 1.0 exonic rs1359992 LOC100505478 AU nonsynonymous SNV NM_001199233 exon4 c.T134A p.L45Q 0.757987 0.6736 0.6376 0.7353 Pathogenic 9_117433685_C->T 9 117433685 117433685 C T snp 1710.77 1/1 99 62 0 62 1.0 exonic rs2296948 LOC100505478 AU synonymous SNV NM_001199233 exon3 c.G105A p.Q35Q 0.605431 0.5605 0.5402 0.625 Uncertain 9_117433811_-->A 9 117433811 117433811 - A indel 3470.73 1/1 99 85 0 85 1.0 intronic rs3215861 LOC100505478 AU NM_001199233 exon3 c.4863+26insA 0.591054 0.5605 0.5306 0.6119 Uncertain 9_117553249_T->C 9 117553249 117553249 T C snp 909.77 0/1 99 75 40 35 0.47 intronic rs4246905 TNFSF15 AU NM_005118 exon1 c.455+63T>C 0.786741 0.6528 0.7775 0.6613 0.0 P -1.033 T ID=COSM3847460;OCCURENCE=1(breast) Uncertain 9_117656633_-->CTG 9 117656633 117656633 - CTG indel 798.73 0/1 99 23 9 14 0.61 intergenic rs3833492 TNFSF15 AU 0.55651 0.3185 Uncertain 9_117666678_G->A 9 117666678 117666678 G A snp 343.77 0/1 99 19 7 12 0.63 intronic rs3181367 TNFSF8 AU NM_001244 exon1 c.395+73G>A 0.571486 0.3859 Uncertain 9_117668142_C->T 9 117668142 117668142 C T snp 1367.77 0/1 99 116 55 61 0.53 exonic rs3181195 TNFSF8 AU synonymous SNV NM_001244 exon3 c.G276A p.R92R 0.329073 0.245 0.351761 0.3822 0.2608 ID=COSM4163270;OCCURENCE=1(thyroid) Uncertain 9_117791617_T->C 9 117791617 117791617 T C snp 892.77 0/1 99 94 57 37 0.39 intronic rs12346540 TNC AD NM_002160 exon4 c.8203-21T>C 0.14976 0.129 0.207135 0.2224 0.1660 Uncertain 9_117792426_G->T 9 117792426 117792426 G T snp 191.77 0/1 99 12 5 7 0.58 intronic rs13286441 TNC AD NM_002160 exon5 c.9097-106G>T 0.342851 0.2351 Uncertain 9_117792583_C->G 9 117792583 117792583 C G snp 1079.77 0/1 99 105 56 49 0.47 exonic rs13321 TNC AD nonsynonymous SNV NM_002160 exon24 c.G6022C p.E2008Q 0.668131 0.5625 0.714978 0.6857 0.5557 1 T 0.029 P -1.062 T 0.043 T 0.048 T Pathogenic 9_117797359_-->T 9 117797359 117797359 - T indel 97.73 0/1 99 11 5 6 0.55 intronic rs3215885 TNC AD NM_002160 exon7 c.14047-123insT 0.735623 0.6002 Uncertain 9_117797597_T->C 9 117797597 117797597 T C snp 1013.77 0/1 99 99 52 47 0.47 exonic rs12347433 TNC AD synonymous SNV NM_002160 exon22 c.A5673G p.R1891R 0.154353 0.129 0.208904 0.2270 0.1655 0.1 T 1.0 P -1.023 T Likely benign 9_117800417_T->A 9 117800417 117800417 T A snp 1017.77 0/1 99 57 21 36 0.63 intronic rs2274751 TNC AD NM_002160 exon9 c.17104-122T>A 0.0710863 0.0556 Uncertain 9_117803185_-->ACAC 9 117803185 117803185 - ACAC indel 1351.73 0/1 99 50 23 27 0.54 intronic rs35141770 TNC AD NM_002160 exon10 c.19784-34insACAC 0.602835 0.4931 0.4542 0.3847 Uncertain 9_117808785_T->A 9 117808785 117808785 T A snp 1478.77 0/1 99 121 54 67 0.55 exonic rs2104772 TNC AD nonsynonymous SNV NM_002160 exon17 c.A5029T p.I1677L 0.48103 0.4514 0.475704 0.4385 0.4377 1 T 1.0 P -0.922 T 0.004 T 0.032 T ID=COSM3763573;OCCURENCE=1(large_intestine) ID=CM053428;DIS=Adult asthma, association with;TAG=DP;PUB=16115819 DP Pathogenic 9_117836188_A->G 9 117836188 117836188 A G snp 377.77 0/1 99 29 15 14 0.48 intronic rs2210108 TNC AD NM_002160 exon19 c.52710+43A>G 0.744409 0.5635 0.794326 0.7255 0.5505 Uncertain 9_117846450_A->G 9 117846450 117846450 A G snp 951.77 0/1 99 51 16 35 0.69 intronic rs1755639 TNC AD NM_002160 exon25 c.63052-37A>G 0.547125 0.4058 0.567815 0.5485 0.3845 Uncertain 9_117846570_C->T 9 117846570 117846570 C T snp 2017.77 0/1 99 177 93 84 0.47 exonic rs2274836 TNC AD synonymous SNV NM_002160 exon4 c.G2049A p.E683E 0.464058 0.5942 0.439489 0.4578 0.6173 ID=COSM3763575;OCCURENCE=1(large_intestine) Uncertain 9_117848197_C->T 9 117848197 117848197 C T snp 2315.77 0/1 99 243 136 107 0.44 exonic rs3827816 TNC AD nonsynonymous SNV NM_002160 exon3 c.G1813A p.V605I 0.0896565 0.3482 0.010072 0.0410 0.3822 0.38 T 0.602 P -0.904 T 0.091 T 0.014 T Pathogenic 9_117848201_T->C 9 117848201 117848201 T C snp 3369.77 0/1 99 243 106 137 0.56 exonic rs3827815 TNC AD synonymous SNV NM_002160 exon3 c.A1809G p.Q603Q 0.0990415 0.119 0.088651 0.1059 0.1215 Uncertain 9_117848394_T->C 9 117848394 117848394 T C snp 7564.77 1/1 99 250 0 250 1.0 exonic rs1757095 TNC AD nonsynonymous SNV NM_002160 exon3 c.A1616G p.Q539R 0.947684 0.999 0.913732 0.9508 0.9997 1 T 0.0 P -0.921 T 0.001 T 0.009 T Pathogenic 9_118053463_G->A 9 118053463 118053463 G A snp 503.77 0/1 99 28 10 18 0.64 intronic rs2285314 DEC1 AD 0.10004 0.3512 Uncertain 9_118054178_T->A 9 118054178 118054178 T A snp 2344.77 1/1 99 76 0 76 1.0 UTR5 rs2285315 DEC1 AD 0.157748 0.3998 Uncertain 9_118054182_G->A 9 118054182 118054182 G A snp 2286.77 1/1 99 72 0 72 1.0 UTR5 rs2285316 DEC1 AD 0.684505 0.9514 Uncertain 9_118163399_G->A 9 118163399 118163399 G A snp 1277.77 1/1 93 43 0 43 1.0 intronic rs41308904 DEC1 AD NM_017418 exon7 c.24490-72G>A 0.0247604 0.0685 Uncertain 9_118163563_C->T 9 118163563 118163563 C T snp 1898.77 1/1 99 70 0 70 1.0 exonic rs2269700 DEC1 AD nonsynonymous SNV NM_017418 exon7 c.C179T p.A60V 0.762181 0.8492 0.703675 0.6778 0.8521 0 D 0.0 P -1.004 T 0.0 T 0.0 T Pathogenic 9_118969686_-->TATTTAAATAG 9 118969686 118969686 - TATTTAAATAG indel 1494.73 1/1 33 11 0 11 1.0 intronic rs11268296 PAPPA AU NM_002581 exon3 c.53283-48insTATTTAAATAG 0.596845 0.7034 0.517826 0.5133 0.7576 Uncertain 9_119028018_A->G 9 119028018 119028018 A G snp 268.77 0/1 54 10 2 8 0.8 intronic rs17175391 PAPPA AU NM_002581 exon8 c.111684-117A>G 0.110224 0.0208 Uncertain 9_119033470_G->A 9 119033470 119033470 G A snp 379.77 0/1 99 32 18 14 0.44 intronic rs3747823 PAPPA AU NM_002581 exon9 c.117152-133G>A 0.254992 0.2173 Uncertain 9_119065043_C->T 9 119065043 119065043 C T snp 1079.77 0/1 99 136 85 51 0.38 exonic rs35565319 PAPPA AU synonymous SNV NM_002581 exon10 c.C2961T p.P987P 0.0319489 0.0179 0.050592 0.0624 0.0152 Uncertain 9_119093757_G->A 9 119093757 119093757 G A snp 749.77 0/1 99 47 19 28 0.6 intronic rs72754266 PAPPA AU NM_002581 exon11 c.177185+121G>A 0.0335463 0.0188 Uncertain 9_119106626_C->T 9 119106626 119106626 C T snp 99.28 1/1 9 4 0 4 1.0 intronic rs6478232 PAPPA AU NM_002581 exon14 c.190370-195C>T 0.561302 0.6994 Uncertain 9_119106881_C->A 9 119106881 119106881 C A snp 2144.77 0/1 99 179 86 93 0.52 exonic rs7020782 PAPPA AU nonsynonymous SNV NM_002581 exon14 c.C3671A p.S1224Y 0.571685 0.6984 0.576657 0.6687 0.7130 0.01 T 0.000 P -0.952 T 0.359 T 0.08 T Pathogenic 9_119107024_C->G 9 119107024 119107024 C G snp 576.77 0/1 99 27 6 21 0.78 intronic rs56187073 PAPPA AU NM_002581 exon14 c.190539+34C>G 0.0634984 0.0446 0.051361 0.0659 0.0593 Uncertain 9_119129826_A->G 9 119129826 119129826 A G snp 592.77 1/1 45 15 0 15 1.0 intronic rs7020762 PAPPA AU NM_002581 exon19 c.213472-97A>G 0.993211 1 Uncertain 9_119158814_T->C 9 119158814 119158814 T C snp 1336.77 0/1 99 119 63 56 0.47 exonic rs8456 PAPPA AU synonymous SNV NM_002581 exon22 c.T4803C p.D1601D 0.672324 0.6438 0.666231 0.6967 0.6657 Uncertain 9_119160791_T->C 9 119160791 119160791 T C snp 627.77 0/1 99 44 19 25 0.57 ncRNA_exonic rs3810939 PAPPA-AS1 AU 0.294928 0.3641 0.3221 0.3615 0 D 0.000 P -0.945 T Uncertain 9_119187839_C->T 9 119187839 119187839 C T snp 554.77 0/1 99 57 32 25 0.44 UTR3 rs7518 ASTN2 AU 0.200479 0.1806 0.241891 0.2329 0.1722 Uncertain 9_119188495_T->G 9 119188495 119188495 T G snp 403.77 0/1 99 27 12 15 0.56 intronic rs4836708 ASTN2 AU NM_014010 exon1 c.238+128T>G 0.322883 0.3651 Uncertain 9_119199485_T->A 9 119199485 119199485 T A snp 309.78 1/1 24 9 0 9 1.0 intronic rs7034542 ASTN2 AU NM_014010 exon2 c.14758-3402T>A 0.922324 0.9702 Uncertain 9_119199820_C->G 9 119199820 119199820 C G snp 1491.77 1/1 99 55 0 55 1.0 intronic rs7018569 ASTN2 AU NM_014010 exon2 c.14758-3067C>G 0.922125 0.9702 0.9369 0.9701 0.000 P -1.027 T Uncertain 9_119204638_G->A 9 119204638 119204638 G A snp 2196.77 0/1 99 137 45 92 0.67 intronic rs2302827 ASTN2 AU NM_014010 exon3 c.16602-93G>A 0.378195 0.505 Uncertain 9_119204960_C->A 9 119204960 119204960 C A snp 180.9 1/1 15 5 0 5 1.0 intronic rs1321923 ASTN2 AU NM_014010 exon3 c.16703+128C>A 0.907947 0.9613 Uncertain 9_119382768_A->G 9 119382768 119382768 A G snp 2215.77 0/1 99 180 94 86 0.48 intronic rs2295741 ASTN2 AU NM_014010 exon6 c.194593+46A>G 0.397564 0.4633 0.398278 0.4471 0.4497 Uncertain 9_119382930_C->T 9 119382930 119382930 C T snp 52.74 1/1 6 2 0 2 1.0 intronic rs4837682 ASTN2 AU NM_014010 exon6 c.194593+208C>T 0.840056 0.8046 Uncertain 9_119462112_C->T 9 119462112 119462112 C T snp 518.77 1/1 39 14 0 14 1.0 UTR3 rs3019 TRIM32 AR 0.949081 0.9732 Uncertain 9_119491303_C->T 9 119491303 119491303 C T snp 1840.77 0/1 99 152 72 80 0.53 exonic rs3818503 ASTN2 AU nonsynonymous SNV NM_014010 exon14 c.G2441A p.R814H 0.00778754 0.0387 0.000461 0.0052 0.0677 0.743 D -1.036 T 0.043 T 0.011 T Pathogenic 9_119491490_T->C 9 119491490 119491490 T C snp 553.77 0/1 99 44 23 21 0.48 intronic rs75352741 ASTN2 AU NM_014010 exon9 c.303246+115T>C 0.024361 0.1071 Uncertain 9_119495575_T->G 9 119495575 119495575 T G snp 122.77 0/1 66 6 2 4 0.67 intronic rs2274414 ASTN2 AU NM_014010 exon10 c.307548-102T>G 0.115815 0.1954 Uncertain 9_119495697_T->C 9 119495697 119495697 T C snp 1813.77 1/1 99 66 0 66 1.0 exonic rs7863560 ASTN2 AU synonymous SNV NM_014010 exon13 c.A2349G p.P783P 0.992412 1 0.995156 0.9985 1 Uncertain 9_119582872_T->G 9 119582872 119582872 T G snp 724.77 0/1 99 47 18 29 0.62 intronic rs3765537 ASTN2 AU NM_014010 exon12 c.394766-23T>G 0.746206 0.7113 0.749346 0.7294 0.6862 Uncertain 9_119770480_C->T 9 119770480 119770480 C T snp 1617.77 0/1 99 190 115 75 0.39 exonic rs3761845 ASTN2 AU synonymous SNV NM_014010 exon6 c.G1329A p.P443P 0.489816 0.748 0.433569 0.5488 0.7517 Uncertain 9_119770551_G->A 9 119770551 119770551 G A snp 3673.77 1/1 99 132 0 132 1.0 intronic rs7036098 ASTN2 AU NM_014010 exon17 c.582409+13G>A 0.964856 0.999 0.968169 0.9896 1 Uncertain 9_119903506_C->T 9 119903506 119903506 C T snp 4959.77 1/1 99 172 0 172 1.0 intronic rs10817999 ASTN2 AU NM_014010 exon19 c.670301+45076C>T 0.53135 0.6657 Uncertain 9_119903807_A->C 9 119903807 119903807 A C snp 1919.77 1/1 99 63 0 63 1.0 intronic rs57782747 ASTN2 AU NM_014010 exon19 c.670301+45377A>C 0.990815 1 0.990639 0.9959 0.9995 Uncertain 9_119977051_G->T 9 119977051 119977051 G T snp 348.77 0/1 99 28 14 14 0.5 intronic rs7856971 ASTN2 AU NM_014010 exon20 c.788892+30G>T 0.321486 0.4177 0.317852 0.3340 0.4095 Uncertain 9_119977077_T->C 9 119977077 119977077 T C snp 474.77 1/1 36 13 0 13 1.0 intronic rs4543613 ASTN2 AU NM_014010 exon20 c.788892+56T>C 0.952077 0.9147 Uncertain 9_120053695_G->A 9 120053695 120053695 G A snp 1215.77 0/1 99 95 42 53 0.56 exonic rs2297697 ASTN2 AU synonymous SNV NM_014010 exon2 c.C540T p.S180S 0.0579073 0.1687 0.004306 0.0291 0.1678 Uncertain 9_120053776_T->C 9 120053776 120053776 T C snp 2363.77 1/1 99 88 1 87 0.99 exonic rs7848630 ASTN2 AU synonymous SNV NM_014010 exon2 c.A459G p.A153A 0.964657 0.9891 0.966400 0.9859 0.9909 Uncertain 9_120471058_G->A 9 120471058 120471058 G A snp 3194.83 1/1 99 104 0 104 1.0 intronic rs2770148 TLR4 AU NM_003266 exon3 c.140+51G>A 0.960663 1 0.951791 0.9863 1 Uncertain 9_122001000_G->A 9 122001000 122001000 G A snp 647.77 0/1 99 57 28 29 0.51 exonic rs2274157 BRINP1 AU synonymous SNV NM_014618 exon5 c.C618T p.S206S 0.442093 0.6736 0.351299 0.4509 0.6645 ID=COSM3763584;OCCURENCE=1(large_intestine) Uncertain 9_122004546_AGGACAGGGAT->- 9 122004546 122004556 AGGACAGGGAT - indel 2850.73 0/1 99 56 27 29 0.52 intronic rs3831067 BRINP1 AU NM_014618 exon5 c.75133+52_75133+62delAGGACAGGGAT 0.40595 0.6706 0.315217 0.4332 0.6494 Uncertain 9_122275247_A->T 9 122275247 122275247 A T snp 532.77 0/1 99 50 24 26 0.52 intergenic rs10984573 BRINP1 AU 0.301717 0.5734 0.3130 0.6212 Uncertain 9_123151679_A->G 9 123151679 123151679 A G snp 2161.77 1/1 99 79 0 79 1.0 intronic rs4836820 CDK5RAP2 AR NM_018249 exon1 c.57+109A>G 0.79353 0.8571 Uncertain 9_123152099_C->G 9 123152099 123152099 C G snp 1933.77 1/1 99 76 0 76 1.0 intronic rs2297457 CDK5RAP2 AR NM_018249 exon2 c.552+34C>G 0.734225 0.8145 0.697601 0.7126 0.7940 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000145504.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 9_123152241_A->C 9 123152241 123152241 A C snp 264.8 1/1 21 7 0 7 1.0 intronic rs2297456 CDK5RAP2 AR NM_018249 exon2 c.552+176A>C 0.714457 0.8194 Uncertain 9_123156657_T->G 9 123156657 123156657 T G snp 417.77 1/1 33 11 0 11 1.0 intronic rs10984901 CDK5RAP2 AR NM_018249 exon3 c.5276-132T>G 0.33107 0.4633 Uncertain 9_123156761_G->C 9 123156761 123156761 G C snp 2587.77 1/1 99 96 0 96 1.0 intronic rs4410972 CDK5RAP2 AR NM_018249 exon3 c.5276-28G>C 0.6875 0.8145 0.641934 0.6951 0.7928 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000145501.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 9_123166160_A->G 9 123166160 123166160 A G snp 256.8 1/1 21 7 0 7 1.0 intronic rs2297453 CDK5RAP2 AR NM_018249 exon6 c.14800-153A>G 0.6877 0.5982 Uncertain 9_123169718_C->G 9 123169718 123169718 C G snp 218.84 1/1 18 6 0 6 1.0 intronic rs2282168 CDK5RAP2 AR NM_018249 exon7 c.18013+192C>G 0.846046 0.8968 Uncertain 9_123170733_C->G 9 123170733 123170733 C G snp 1534.77 1/1 99 58 0 58 1.0 exonic rs4837768 CDK5RAP2 AR nonsynonymous SNV NM_018249 exon31 c.G4618C p.V1540L 0.753195 0.8591 0.695602 0.7691 0.8287 0.41 T 0.0 P -1.012 T 0.105 T 0.055 T CLINSIG=non-pathogenic|probable-non-pathogenic;CLNDBN=Primary_autosomal_recessive_microcephaly_3|not_specified;CLNREVSTAT=no_assertion_criteria_provided|no_assertion_criteria_provided;CLNACC=RCV000020841.1|RCV000145488.1;CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet|MedGen;CLNDSDBID=NBK9587:C1858108:604804:ORPHA2512|CN169374 Pathogenic 9_123280950_T->C 9 123280950 123280950 T C snp 1300.77 1/1 93 44 0 44 1.0 intronic rs2095064 CDK5RAP2 AR NM_018249 exon27 c.129410+27T>C 0.795727 0.7222 0.836921 0.8763 0.7418 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000145456.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 9_123291036_C->G 9 123291036 123291036 C G snp 1681.77 1/1 99 63 0 63 1.0 exonic rs4836822 CDK5RAP2 AR nonsynonymous SNV NM_018249 exon9 c.G865C p.E289Q 0.801118 0.7123 0.848378 0.8772 0.7243 0.15 T 0.996 P -1.097 T 0.901 T 0.665 P CLINSIG=non-pathogenic|probable-non-pathogenic;CLNDBN=Primary_autosomal_recessive_microcephaly_3|not_specified;CLNREVSTAT=no_assertion_criteria_provided|no_assertion_criteria_provided;CLNACC=RCV000020847.1|RCV000145507.1;CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet|MedGen;CLNDSDBID=NBK9587:C1858108:604804:ORPHA2512|CN169374 Pathogenic 9_123313246_T->C 9 123313246 123313246 T C snp 1102.77 1/1 81 35 0 35 1.0 intronic rs954214 CDK5RAP2 AR NM_018249 exon35 c.161667+66T>C 0.79992 0.7054 Uncertain 9_123330813_T->C 9 123330813 123330813 T C snp 1868.77 1/1 99 54 0 54 1.0 intronic rs4837782 CDK5RAP2 AR NM_018249 exon36 c.179153+147T>C 0.823283 0.7063 Uncertain 9_123342259_C->A 9 123342259 123342259 C A snp 3616.77 1/1 99 126 0 126 1.0 UTR5 rs932975 CDK5RAP2 AR 0.980431 1 0.973781 0.9921 1 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_multiple_submitters\x2c_no_conflicts;CLNACC=RCV000081944.4;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 9_123342275_A->G 9 123342275 123342275 A G snp 2737.77 1/1 99 93 1 92 0.99 UTR5 rs932974 CDK5RAP2 AR 0.965455 1 0.958788 0.9878 1 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000081943.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 9_123370345_C->G 9 123370345 123370345 C G snp 611.77 0/1 99 46 25 21 0.46 intronic rs991121 MEGF9 AU NM_001080497 exon2 c.2821+57C>G 0.566494 0.5843 Uncertain 9_123374639_T->C 9 123374639 123374639 T C snp 1215.77 0/1 99 94 42 52 0.55 intronic rs2416760 MEGF9 AU NM_001080497 exon3 c.7206-34T>C 0.555711 0.5813 0.491616 0.6650 0.5632 Uncertain 9_123421556_C->T 9 123421556 123421556 C T snp 40.77 0/1 69 5 3 2 0.4 intronic rs10984974 MEGF9 AU NM_001080497 exon5 c.54184-95C>T 0.564896 0.5843 Uncertain 9_123476543_CGGCGG->- 9 123476543 123476548 CGGCGG - indel 5095.73 0/1 99 138 65 73 0.53 exonic rs369989873 MEGF9 AU nonframeshift deletion NM_001080497 exon1 c.89_94del p.30_32del 0.66873 0.5853 0.721429 0.7795 0.5714 ID=COSM3719952;OCCURENCE=1(haematopoietic_and_lymphoid_tissue) Uncertain 9_123538346_G->T 9 123538346 123538346 G T snp 1346.77 0/1 99 118 59 59 0.5 intronic rs72758110 FBXW2 AU NM_012164 exon4 c.11534-24G>T 0.0778754 0.3036 0.010366 0.0385 0.3037 Uncertain 9_123538641_G->A 9 123538641 123538641 G A snp 108.77 0/1 99 10 6 4 0.4 intronic rs16910132 FBXW2 AU NM_012164 exon4 c.11668+137G>A 0.102636 0.3571 Uncertain 9_123550027_G->A 9 123550027 123550027 G A snp 1471.77 0/1 99 132 76 56 0.42 intronic rs7026635 FBXW2 AU NM_012164 exon6 c.23210-19G>A 0.755591 0.5397 0.770764 0.7535 0.5509 Uncertain 9_123583192_A->G 9 123583192 123583192 A G snp 900.77 0/1 99 73 34 39 0.53 exonic rs1060817 PSMD5 AU synonymous SNV NM_001270427 exon8 c.T1053C p.D351D 0.488419 0.4673 0.471321 0.5794 0.4752 ID=COSM3763586,COSM3763587;OCCURENCE=1(large_intestine) Uncertain 9_123586737_T->G 9 123586737 123586737 T G snp 2402.77 0/1 99 188 89 99 0.53 intronic rs10760117 PSMD5 AU NM_005047 exon4 c.6588-34T>G 0.489217 0.4732 0.470860 0.5815 0.4814 0 D 0.0 P -0.938 T Uncertain 9_123605126_T->C 9 123605126 123605126 T C snp 1113.77 0/1 99 103 57 46 0.45 exonic rs2297575 PSMD5 AU nonsynonymous SNV NM_001270427 exon1 c.A62G p.E21G 0.0688898 0.2083 0.003317 0.0560 0.2276 0.22 T 1.000 P -1.054 T 0.749 T 0.492 P Pathogenic 9_123624016_A->C 9 123624016 123624016 A C snp 175.77 0/1 99 17 10 7 0.41 intronic rs77271979 PHF19 AU NM_015651 exon4 c.3974-179A>C 0.00319489 0.0159 Uncertain 9_123631642_G->C 9 123631642 123631642 G C snp 2004.77 0/1 99 176 89 87 0.49 intronic rs3753029 PHF19 AU NM_015651 exon10 c.11387+34G>C 0.510383 0.498 0.480908 0.6080 0.5043 Uncertain 9_123632045_A->G 9 123632045 123632045 A G snp 1000.77 0/1 99 84 41 43 0.51 intronic rs1056567 PHF19 AU NM_015651 exon11 c.11901-77A>G 0.63778 0.501 0.644958 0.7157 0.5558 Uncertain 9_123632829_G->C 9 123632829 123632829 G C snp 1461.77 0/1 99 131 63 68 0.52 intronic rs4836833 PHF19 AU NM_001286843 exon2 c.636+13G>C 0.636981 0.498 0.644010 0.6830 0.5063 Uncertain 9_123636121_C->A 9 123636121 123636121 C A snp 64.77 0/1 93 8 5 3 0.38 intronic rs10985070 PHF19 AU NM_001286843 exon3 c.4076-135C>A 0.474641 0.501 Uncertain 9_123670505_A->T 9 123670505 123670505 A T snp 43.77 0/1 72 4 2 2 0.5 intronic rs7866003 TRAF1 AU NM_005658 exon2 c.4210-1002A>T 0.732029 0.7242 Uncertain 9_123671520_G->A 9 123671520 123671520 G A snp 543.77 0/1 99 41 21 20 0.49 exonic rs2239657 TRAF1 AU synonymous SNV NM_001190947 exon5 c.C654T p.P218P 0.732029 0.7242 0.693757 0.6877 0.7038 Uncertain 9_123673890_G->C 9 123673890 123673890 G C snp 153.77 0/1 99 10 4 6 0.6 intronic rs7021880 TRAF1 AU NM_005658 exon3 c.6494+99G>C 0.242013 0.2758 Uncertain 9_123676396_G->C 9 123676396 123676396 G C snp 624.77 0/1 99 46 22 24 0.52 intronic rs2416804 TRAF1 AU NM_005658 exon5 c.9215-116G>C 0.454673 0.502 Uncertain 9_123676482_T->C 9 123676482 123676482 T C snp 772.77 0/1 99 73 39 34 0.47 intronic rs2416805 TRAF1 AU NM_005658 exon5 c.9215-30T>C 0.731629 0.7242 0.693834 0.6846 0.7040 Uncertain 9_123686219_C->G 9 123686219 123686219 C G snp 214.77 0/1 99 14 7 7 0.5 intronic rs1930780 TRAF1 AU NM_005658 exon6 c.18773+149C>G 0.732029 0.7252 Uncertain 9_123751800_A->G 9 123751800 123751800 A G snp 157.77 0/1 57 7 2 5 0.71 intronic rs3764912 C5 AU,AD NM_001735 exon18 c.36829-45A>G 0.508986 0.7798 0.411729 0.6064 0.8172 Uncertain 9_123758425_T->C 9 123758425 123758425 T C snp 227.77 0/1 99 21 11 10 0.48 intronic rs10760134 C5 AU,AD NM_001735 exon20 c.43501-92T>C 0.409944 0.5694 Uncertain 9_123760107_G->C 9 123760107 123760107 G C snp 52.74 1/1 6 2 0 2 1.0 intronic rs10985118 C5 AU,AD NM_001735 exon21 c.45036+55G>C 0.409545 0.5694 Uncertain 9_123769200_C->T 9 123769200 123769200 C T snp 620.77 0/1 99 82 49 33 0.4 exonic rs17611 C5 AU,AD nonsynonymous SNV NM_001735 exon19 c.G2404A p.V802I 0.404752 0.5685 0.324850 0.4586 0.5539 0.25 T 0.055 P -0.957 T 0.127 T 0.03 T ID=CM093430;DIS=Ischemic stroke, association with;TAG=DP;PUB=19028820 DP Pathogenic 9_123780005_G->A 9 123780005 123780005 G A snp 5849.77 1/1 99 213 0 213 1.0 exonic rs25681 C5 AU,AD synonymous SNV NM_001735 exon13 c.C1632T p.Y544Y 0.405751 0.5724 0.324543 0.4570 0.5537 Uncertain 9_123787697_-->ACACACAC 9 123787697 123787697 - ACACACAC indel 966.74 1/1 30 10 0 10 1.0 intronic rs140753263 C5 AU,AD NM_001735 exon33 c.72715-34insACACACAC 0.815495 0.9772 Uncertain 9_123789634_C->T 9 123789634 123789634 C T snp 345.78 1/1 27 10 0 10 1.0 intronic rs2416811 C5 AU,AD NM_001735 exon34 c.74536+82C>T 0.419728 0.5744 Uncertain 9_123797324_T->A 9 123797324 123797324 T A snp 56.74 1/1 6 2 0 2 1.0 intronic rs10760138 C5 AU,AD NM_001735 exon37 c.82156+152T>A 0.826278 0.9702 Uncertain 9_123850770_G->A 9 123850770 123850770 G A snp 5652.77 1/1 99 210 0 210 1.0 exonic rs10818503 CNTRL AU nonsynonymous SNV NM_007018 exon1 c.G166A p.V56I 0.639577 0.7788 0.569660 0.6933 0.7866 0.21 T 0.0 P -1.016 T 0.001 T 0.001 T Pathogenic 9_123857085_C->T 9 123857085 123857085 C T snp 218.84 1/1 18 6 0 6 1.0 intronic rs10760146 CNTRL AU NM_007018 exon3 c.6561-80C>T 0.430511 0.5694 Uncertain 9_123860689_C->T 9 123860689 123860689 C T snp 4906.77 1/1 99 174 1 173 0.99 exonic rs10818504 CNTRL AU nonsynonymous SNV NM_007018 exon5 c.C647T p.P216L 0.430911 0.5704 0.349147 0.4586 0.5469 0.03 T 0.982 P -0.900 T 0.998 D 0.75 D Pathogenic 9_123888242_G->T 9 123888242 123888242 G T snp 1941.77 1/1 99 72 0 72 1.0 intronic rs10760150 CNTRL AU NM_007018 exon12 c.37610+28G>T 0.788738 0.9663 0.676819 0.7528 0.9630 Uncertain 9_123907806_A->C 9 123907806 123907806 A C snp 461.77 1/1 36 12 0 12 1.0 intronic rs10454363 CNTRL AU NM_007018 exon20 c.57059+143A>C 0.764776 0.9663 Uncertain 9_123908345_G->A 9 123908345 123908345 G A snp 593.77 1/1 45 17 0 17 1.0 intronic rs7023214 CNTRL AU NM_007018 exon21 c.57781-40G>A 0.644968 0.7788 0.567601 0.6934 0.7861 Uncertain 9_123917020_T->A 9 123917020 123917020 T A snp 1177.77 1/1 84 38 0 38 1.0 exonic rs3736855 CNTRL AU synonymous SNV NM_007018 exon25 c.T4194A p.V1398V 0.432109 0.5694 0.350992 0.4648 0.5467 Uncertain 9_123917355_A->G 9 123917355 123917355 A G snp 835.77 1/1 66 23 0 23 1.0 intronic rs10818512 CNTRL AU NM_007018 exon25 c.66587+164A>G 0.766773 0.9663 Uncertain 9_123923411_-->GT 9 123923411 123923411 - GT indel 2489.73 1/1 99 62 1 61 0.98 intronic rs10675098 CNTRL AU NM_007018 exon31 c.73529-722insGT Uncertain 9_123924668_AT->- 9 123924668 123924669 AT - indel 801.73 1/1 48 24 0 24 1.0 intronic rs10586591 CNTRL AU NM_007018 exon32 c.73945+119_73945+120delAT 0.56889 0.744 Uncertain 9_123927477_T->A 9 123927477 123927477 T A snp 2530.77 1/1 99 79 0 79 1.0 intronic rs4836841 CNTRL AU NM_007018 exon33 c.76774+99T>A 0.64397 0.7778 Uncertain 9_123928486_T->C 9 123928486 123928486 T C snp 2219.77 1/1 99 89 0 89 1.0 intronic rs2273988 CNTRL AU NM_007018 exon34 c.77854+28T>C 0.644169 0.7778 0.568122 0.7002 0.7899 Uncertain 9_123928569_G->A 9 123928569 123928569 G A snp 1455.77 1/1 99 51 0 51 1.0 intronic rs1535655 CNTRL AU NM_007018 exon34 c.77854+111G>A 0.788339 0.9653 Uncertain 9_123929710_A->G 9 123929710 123929710 A G snp 2616.77 1/1 99 92 0 92 1.0 intronic rs10818513 CNTRL AU NM_007018 exon35 c.79162-56A>G 0.767173 0.9643 Uncertain 9_123930296_A->C 9 123930296 123930296 A C snp 139.03 1/1 12 4 0 4 1.0 intronic rs2146836 CNTRL AU NM_007018 exon36 c.79769-77A>C 0.645767 0.7778 Uncertain 9_123937601_T->C 9 123937601 123937601 T C snp 1412.77 1/1 99 48 0 48 1.0 intronic rs3789310 CNTRL AU NM_007018 exon41 c.86898+99T>C 0.435104 0.5704 Uncertain 9_123939336_-->A 9 123939336 123939336 - A indel 429.73 1/1 33 11 0 11 1.0 intronic rs3838267 CNTRL AU NM_007018 exon42 c.88836-104insA 0.408347 0.5704 Uncertain 9_123943884_C->T 9 123943884 123943884 C T snp 2644.77 1/1 99 87 0 87 1.0 intronic rs2296078 RAB14 AU NM_016322 exon1 c.178+33C>T 0.420128 0.5665 0.337921 0.4573 0.5477 Uncertain 9_123945505_-->A 9 123945505 123945505 - A indel 669.73 1/1 72 27 0 27 1.0 intronic rs3215744 RAB14 AU NM_016322 exon3 c.1915-83insA Uncertain 9_123955756_G->A 9 123955756 123955756 G A snp 588.77 1/1 42 24 0 24 1.0 intronic rs10818516 RAB14 AU NM_016322 exon7 c.12024+59G>A 0.407947 0.5685 0.346643 Uncertain 9_123955765_A->C 9 123955765 123955765 A C snp 585.77 1/1 42 24 0 24 1.0 intronic rs6478504 RAB14 AU NM_016322 exon7 c.12024+68A>C 0.771366 0.9663 0.658842 Uncertain 9_124043867_C->T 9 124043867 124043867 C T snp 6690.77 1/1 99 247 0 247 1.0 ncRNA_exonic rs10985200 GSN-AS1 AU 0.449081 0.628 0.5391 0.6341 Uncertain 9_124073176_T->C 9 124073176 124073176 T C snp 859.77 1/1 63 26 0 26 1.0 intronic rs306785 GSN AD NM_198252 exon5 c.8874+53T>C 0.888978 0.994 Uncertain 9_124088768_T->C 9 124088768 124088768 T C snp 736.77 1/1 54 24 0 24 1.0 intronic rs306769 GSN AD NM_198252 exon13 c.24540-21T>C 0.905351 0.994 0.836153 0.8689 0.9914 Uncertain 9_124089173_C->T 9 124089173 124089173 C T snp 493.77 1/1 39 16 0 16 1.0 intronic rs216784 GSN AD NM_198252 exon13 c.24711+213C>T 0.866613 0.994 Uncertain 9_124091135_G->A 9 124091135 124091135 G A snp 1715.77 1/1 99 53 0 53 1.0 intronic rs306771 GSN AD NM_198252 exon15 c.26919-33G>A 0.870008 0.994 0.787713 0.8350 0.9909 Uncertain 9_124118388_C->T 9 124118388 124118388 C T snp 2605.77 0/1 99 218 105 113 0.52 exonic rs114133174 STOM AU synonymous SNV NM_001270526 exon2 c.G108A p.A36A 0.000599042 0.001153 0.0004 0.0001 Uncertain 9_124218133_C->T 9 124218133 124218133 C T snp 226.77 0/1 99 25 15 10 0.4 ncRNA_intronic rs3747845 GGTA1P AU 0.766174 0.7282 0.8731 0.7273 Uncertain 9_124222267_A->G 9 124222267 124222267 A G snp 481.77 0/1 99 35 19 16 0.46 ncRNA_intronic rs2289068 GGTA1P AU 0.76278 0.7282 Uncertain 9_124519214_A->G 9 124519214 124519214 A G snp 896.77 1/1 66 32 0 32 1.0 intronic rs55835505 DAB2IP AU NM_032552 exon4 c.189824-77A>G 0.338658 0.3433 Uncertain 9_124519499_T->C 9 124519499 124519499 T C snp 1120.77 1/1 81 36 0 36 1.0 intronic rs76107944 DAB2IP AU NM_032552 exon4 c.189978+54T>C 0.0583067 0.2371 Uncertain 9_124543885_-->G 9 124543885 124543885 - G indel 2771.73 1/1 99 79 0 79 1.0 intronic rs3831352 DAB2IP AU NM_032552 exon15 c.214363+55insG 0.200679 0.2619 0.154362 Uncertain 9_124622502_C->A 9 124622502 124622502 C A snp 121.77 0/1 93 8 3 5 0.63 intronic rs4381015 TTLL11 AU NM_001139442 exon2 c.37750-113C>A 0.652356 0.7996 Uncertain 9_124632735_C->T 9 124632735 124632735 C T snp 996.77 1/1 72 36 0 36 1.0 intronic rs4384052 TTLL11 AU NM_001139442 exon3 c.47910-40C>T 0.777955 0.9107 0.738826 0.7321 0.8977 Uncertain 9_124633096_G->A 9 124633096 124633096 G A snp 3011.77 1/1 99 110 0 110 1.0 intronic rs4370602 TTLL11 AU NM_001139442 exon3 c.48162+69G>A 0.779353 0.9107 Uncertain 9_124895467_C->T 9 124895467 124895467 C T snp 372.77 0/1 99 24 12 12 0.5 intergenic rs12380610 MIR4478 AU 0.36861 0.3006 Uncertain 9_124895500_A->G 9 124895500 124895500 A G snp 113.77 0/1 99 9 5 4 0.44 intergenic rs10985546 MIR4478 AU 0.36901 0.3006 Uncertain 9_124906723_T->C 9 124906723 124906723 T C snp 1048.77 1/1 78 32 0 32 1.0 intronic rs3818638 NDUFA8 AU NM_014222 exon1 c.138+66T>C 0.683706 0.3849 Uncertain 9_124910582_C->A 9 124910582 124910582 C A snp 1229.77 0/1 99 107 51 56 0.52 intronic rs3793616 NDUFA8 AU NM_014222 exon2 c.4037+26C>A 0.335463 0.2004 0.442949 0.4887 0.2281 Uncertain 9_124910687_T->C 9 124910687 124910687 T C snp 223.77 0/1 99 17 9 8 0.47 intronic rs3793615 NDUFA8 AU NM_014222 exon2 c.4037+131T>C 0.342252 0.1825 Uncertain 9_124914613_C->T 9 124914613 124914613 C T snp 1942.77 0/1 99 185 100 85 0.46 exonic rs4679 NDUFA8 AU synonymous SNV NM_014222 exon2 c.G126A p.E42E 0.337859 0.2014 0.458788 0.5034 0.2324 Uncertain 9_124967119_C->G 9 124967119 124967119 C G snp 645.77 0/1 99 52 23 29 0.56 intronic rs60359238 LHX6 AU NM_001242333 exon1 c.80+60C>G 0.134984 0.2907 0.097021 Uncertain 9_124976475_C->G 9 124976475 124976475 C G snp 870.77 1/1 66 26 0 26 1.0 intronic rs62574050 LHX6 AU NM_001242333 exon4 c.9582-86C>G 1 1 Uncertain 9_124990765_-->C 9 124990765 124990765 - C indel 381.73 0/1 62 42 7 35 0.83 intronic rs398012140 LHX6 AU NM_001242333 exon9 c.23728+58insC Uncertain 9_125133479_T->C 9 125133479 125133479 T C snp 3254.77 1/1 99 121 0 121 1.0 exonic rs1236913 PTGS1 AU nonsynonymous SNV NM_000962 exon2 c.T22C p.W8R 0.940895 0.9911 0.947332 0.9257 0.9919 0.38 T 0.000 P -0.968 T 0.0 T 0.0 T Pathogenic 9_125144145_A->G 9 125144145 125144145 A G snp 470.77 1/1 36 14 0 14 1.0 intronic rs1238420 PTGS1 AU NM_000962 exon7 c.10663+119A>G 0.979233 0.999 Uncertain 9_125239253_T->C 9 125239253 125239253 T C snp 831.8 1/1 21 32 2 30 0.94 exonic rs1962091 OR1J1 AU nonsynonymous SNV NM_001004451 exon1 c.A953G p.N318S 0.65615 0.7956 0.563154 0.5370 0.7878 1 T 0.0 P -0.932 T 0.0 T 0.0 T Pathogenic 9_125240032_G->A 9 125240032 125240032 G A snp 446.77 0/1 99 32 14 18 0.56 exonic rs140334685 OR1J1 AU synonymous SNV NM_001004451 exon1 c.C174T p.P58P 0.00758786 0.0347 0.000384 0.0041 0.0439 Uncertain 9_125272954_T->C 9 125272954 125272954 T C snp 992.77 0/1 99 74 34 40 0.54 upstream rs143748567 OR1J2 AU 0.00139776 0.0069 Uncertain 9_125273574_G->A 9 125273574 125273574 G A snp 7887.77 1/1 99 250 1 249 1.0 exonic rs4836891 OR1J2 AU nonsynonymous SNV NM_054107 exon1 c.G494A p.R165Q 0.112021 0.2411 0.058050 0.0960 0.2291 0.48 T 0.0 P -1.020 T 0.013 T 0.007 T Pathogenic 9_125282393_C->T 9 125282393 125282393 C T snp 1259.77 1/1 90 40 0 40 1.0 downstream rs1318392 OR1J4 AU 0.608427 0.5873 0.530601 0.5226 0.5857 Uncertain 9_125288425_A->G 9 125288425 125288425 A G snp 288.78 1/1 24 8 0 8 1.0 downstream rs7025073 OR1N1 AU 0.713259 0.872 Uncertain 9_125289083_A->G 9 125289083 125289083 A G snp 7008.77 1/1 99 250 0 250 1.0 exonic rs16911867 OR1N1 AU synonymous SNV NM_012363 exon1 c.T490C p.L164L 0.390575 0.505 0.322082 0.3497 0.5222 Uncertain 9_125289521_G->A 9 125289521 125289521 G A snp 1548.77 1/1 99 58 0 58 1.0 exonic rs10818708 OR1N1 AU nonsynonymous SNV NM_012363 exon1 c.C52T p.P18S 0.708466 0.87 0.567969 0.5655 0.8794 0.17 T 0.0 P -1.033 T 0.0 T 0.0 T ID=COSM3763597;OCCURENCE=1(large_intestine) Pathogenic 9_125289604_AGTT->- 9 125289604 125289607 AGTT - indel 987.73 1/1 45 16 0 16 1.0 upstream rs149584971 OR1N1 AU 0.123403 0.2421 0.067355 0.1119 0.2648 Uncertain 9_125315329_G->A 9 125315329 125315329 G A snp 176.9 1/1 15 6 0 6 1.0 upstream rs7032193 OR1N2 AU 0.558706 0.6647 Uncertain 9_125315376_-->T 9 125315376 125315376 - T indel 925.73 1/1 81 27 0 27 1.0 upstream rs11412445 OR1N2 AU 0.805312 0.9921 Uncertain 9_125315418_G->C 9 125315418 125315418 G C snp 2710.77 1/1 99 97 0 97 1.0 upstream rs1411270 OR1N2 AU 0.380791 0.5367 0.284066 0.3068 0.5467 Uncertain 9_125315542_C->T 9 125315542 125315542 C T snp 5756.77 1/1 99 210 1 209 1.0 exonic rs1831369 OR1N2 AU synonymous SNV NM_001004457 exon1 c.C94T p.L32L 0.380591 0.5367 0.284407 0.3086 0.5473 Uncertain 9_125315557_T->C 9 125315557 125315557 T C snp 5847.77 1/1 99 207 2 205 0.99 exonic rs1831370 OR1N2 AU nonsynonymous SNV NM_001004457 exon1 c.T109C p.W37R 0.558506 0.6637 0.518222 0.5173 0.6681 0.3 T 0.0 P -1.075 T 0.0 T 0.0 T Pathogenic 9_125315778_G->C 9 125315778 125315778 G C snp 7100.77 1/1 99 247 0 247 1.0 exonic rs1411271 OR1N2 AU synonymous SNV NM_001004457 exon1 c.G330C p.S110S 0.559505 0.6677 0.518222 0.5174 0.6710 ID=COSM4163299;OCCURENCE=1(thyroid) Uncertain 9_125316033_T->C 9 125316033 125316033 T C snp 4863.77 1/1 99 169 0 169 1.0 exonic rs1341042 OR1N2 AU synonymous SNV NM_001004457 exon1 c.T585C p.Y195Y 0.558906 0.6637 0.518299 0.5170 0.6672 Uncertain 9_125316042_T->C 9 125316042 125316042 T C snp 4918.77 1/1 99 178 0 178 1.0 exonic rs1341043 OR1N2 AU synonymous SNV NM_001004457 exon1 c.T594C p.P198P 0.558906 0.6637 0.518299 0.5170 0.6671 Uncertain 9_125316179_T->G 9 125316179 125316179 T G snp 5207.77 1/1 99 178 0 178 1.0 exonic rs1341044 OR1N2 AU nonsynonymous SNV NM_001004457 exon1 c.T731G p.V244G 0.837061 0.997 0.750115 0.7548 0.9983 0.42 T 0.0 P -0.930 T 0.0 T 0.0 T Pathogenic 9_125316350_C->T 9 125316350 125316350 C T snp 5261.77 1/1 99 193 0 193 1.0 exonic rs1411272 OR1N2 AU nonsynonymous SNV NM_001004457 exon1 c.C902T p.T301M 0.591653 0.6667 0.564047 0.5622 0.6734 1 T 0.000 P -0.928 T 0.003 T 0.001 T Pathogenic 9_125316442_T->C 9 125316442 125316442 T C snp 1342.77 0/1 99 116 61 55 0.47 downstream rs138742249 OR1N2 AU 0.000199681 0.001 3.421e-05 0.0005 Uncertain 9_125316455_C->T 9 125316455 125316455 C T snp 2847.77 1/1 99 102 0 102 1.0 downstream rs7039436 OR1N2 AU 0.428914 0.7976 0.279206 0.3388 0.8161 Uncertain 9_125317424_G->T 9 125317424 125317424 G T snp 1951.77 1/1 99 78 1 77 0.99 downstream rs10733658 OR1N2 AU 0.71845 0.9841 Uncertain 9_125317485_G->T 9 125317485 125317485 G T snp 2264.77 1/1 99 93 0 93 1.0 intergenic rs10760239 OR1N2 AU 0.715455 0.9841 Uncertain 9_125330125_C->G 9 125330125 125330125 C G snp 5233.77 1/1 99 186 0 186 1.0 exonic rs10739614 OR1L8 AU nonsynonymous SNV NM_001004454 exon1 c.G632C p.R211P 0.722444 0.9841 0.636091 0.6458 0.9873 1 T 0.0 P -0.962 T 0.0 T 0.0 T Pathogenic 9_125330184_A->C 9 125330184 125330184 A C snp 4081.77 1/1 99 138 2 136 0.99 exonic rs10985702 OR1L8 AU synonymous SNV NM_001004454 exon1 c.T573G p.S191S 0.48103 0.8056 0.349992 0.3906 0.8256 ID=COSM3763599,COSM3763600;OCCURENCE=1(large_intestine) Uncertain 9_125330325_C->G 9 125330325 125330325 C G snp 2420.77 1/1 99 81 0 81 1.0 exonic rs10985703 OR1L8 AU synonymous SNV NM_001004454 exon1 c.G432C p.L144L 0.423123 0.8006 0.282946 0.3406 0.8200 ID=COSM3763602,COSM3763601;OCCURENCE=1(large_intestine) Uncertain 9_125330678_T->G 9 125330678 125330678 T G snp 2958.77 1/1 99 99 0 99 1.0 exonic rs10985704 OR1L8 AU nonsynonymous SNV NM_001004454 exon1 c.A79C p.T27P 0.665136 0.9792 0.569814 0.5965 0.9820 0.29 T 0.000 P -0.877 T 0.0 T 0.0 T Pathogenic 9_125330739_G->A 9 125330739 125330739 G A snp 2123.77 1/1 99 81 0 81 1.0 exonic rs1999182 OR1L8 AU synonymous SNV NM_001004454 exon1 c.C18T p.H6H 0.632388 0.9792 0.537829 0.5903 0.9819 ID=COSM4163301,COSM4163302;OCCURENCE=1(thyroid) Uncertain 9_125377087_A->G 9 125377087 125377087 A G snp 6300.77 1/1 99 228 0 228 1.0 exonic rs972925 OR1Q1 AU nonsynonymous SNV NM_012364 exon1 c.A71G p.Q24R 0.822684 0.9444 0.768722 0.8394 0.9452 0.03 T 0.0 P -0.981 T 0.002 T 0.007 T Pathogenic 9_125377505_A->G 9 125377505 125377505 A G snp 5284.77 1/1 99 181 0 181 1.0 exonic rs1329957 OR1Q1 AU nonsynonymous SNV NM_012364 exon1 c.A489G p.I163M 0.881789 0.9494 0.866446 0.9197 0.9508 1 T 0.0 P -0.923 T 0.0 T 0.001 T Pathogenic 9_125377734_A->G 9 125377734 125377734 A G snp 1721.77 1/1 99 56 0 56 1.0 exonic rs727913 OR1Q1 AU nonsynonymous SNV NM_012364 exon1 c.A718G p.T240A 0.11901 0.3165 0.051515 0.1028 0.3502 0 D 0.965 P -1.093 T 1.0 D 1.0 D Pathogenic 9_125378014_T->G 9 125378014 125378014 T G snp 2237.77 1/1 99 82 2 80 0.98 downstream rs7470572 OR1Q1 AU 0.461062 0.6042 Uncertain 9_125390773_C->T 9 125390773 125390773 C T snp 54.74 1/1 6 2 0 2 1.0 downstream rs4836903 OR1B1 AU 0.111821 0.2956 Uncertain 9_125390874_A->C 9 125390874 125390874 A C snp 900.77 1/1 66 28 0 28 1.0 exonic rs1556189 OR1B1 AU nonsynonymous SNV NM_001004450 exon1 c.T941G p.V314G 0.821486 0.9514 0.762110 0.8287 0.9531 0.3 T 0.0 P -1.066 T 0.0 T 0.0 T Pathogenic 9_125391026_A->C 9 125391026 125391026 A C snp 3820.77 1/1 99 134 0 134 1.0 exonic rs1476858 OR1B1 AU nonsynonymous SNV NM_001004450 exon1 c.T789G p.C263W 0.752196 0.9375 0.709980 0.8046 0.9356 0 D 0.454 P -0.848 T 0.0 T 0.0 T Pathogenic 9_125391127_C->T 9 125391127 125391127 C T snp 4971.77 1/1 99 179 0 179 1.0 exonic rs1476859 OR1B1 AU nonsynonymous SNV NM_001004450 exon1 c.G688A p.A230T 0.388978 0.7917 0.229048 0.3638 0.8126 0.44 T 0.0 P -1.023 T 0.031 T 0.078 T ID=COSM3763603;OCCURENCE=1(large_intestine) Pathogenic 9_125391241_G->A 9 125391241 125391241 G A snp 3875.77 1/1 99 134 0 134 1.0 exonic rs1476860 OR1B1 AU stopgain NM_001004450 exon1 c.C574T p.R192X 0.339257 0.5972 0.226972 0.3404 0.6150 0.19 T 1.000 P ID=COSM3763604;OCCURENCE=1(large_intestine) Pathogenic 9_125391917_A->G 9 125391917 125391917 A G snp 552.77 1/1 42 15 0 15 1.0 upstream rs1329951 OR1B1 AU 0.790535 0.9375 Uncertain 9_125437611_T->C 9 125437611 125437611 T C snp 3028.77 0/1 99 250 140 110 0.44 exonic rs143061509 OR1L3 AU nonsynonymous SNV NM_001005234 exon1 c.T203C p.F68S 0.00279553 0.0099 0.000154 0.0022 0.0135 0.05 T 1 N -1.064 T 0.977 D 0.864 D Pathogenic 9_125437830_-->TT 9 125437830 125437830 - TT indel 6230.73 0/1 99 248 112 136 0.55 exonic rs200356415 OR1L3 AU frameshift insertion NM_001005234 exon1 c.422_423insTT p.C141fs 0.00638978 0.0308 0.000080 0.0031 0.0416 Pathogenic 9_125486968_G->A 9 125486968 125486968 G A snp 3957.77 1/1 99 140 0 140 1.0 exonic rs2215530 OR1L4 AU nonsynonymous SNV NM_001005235 exon1 c.G700A p.G234R 0.852835 0.9306 0.850069 0.9252 0.9191 0.03 T 0.000 P -0.903 T 0.344 T 0.141 T Pathogenic 9_125512193_C->A 9 125512193 125512193 C A snp 7454.77 1/1 99 250 1 249 1.0 exonic rs10760252 OR1L6 AU nonsynonymous SNV NM_001004453 exon1 c.C67A p.Q23K 0.914537 0.999 0.909706 0.9466 0.9999 0.1 T 0.0 P -1.018 T 0.105 T 0.032 T ID=COSM4163306;OCCURENCE=1(thyroid) Pathogenic 9_125512575_G->A 9 125512575 125512575 G A snp 7079.77 1/1 99 250 8 242 0.97 exonic rs4838012 OR1L6 AU nonsynonymous SNV NM_001004453 exon1 c.G449A p.C150Y 0.902756 0.999 0.9435 0.9998 0.01 T 0.163 P -0.941 T 1.0 D 0.999 D Pathogenic 9_125512770_T->C 9 125512770 125512770 T C snp 872.77 1/1 72 37 0 37 1.0 exonic rs10985760 OR1L6 AU nonsynonymous SNV NM_001004453 exon1 c.T644C p.I215T 0.881789 0.999 0.8638 0.9943 0.01 T 0.000 P -0.893 T 0.96 D 0.673 D ID=COSM4163307;OCCURENCE=2(thyroid) Pathogenic 9_125512788_G->A 9 125512788 125512788 G A snp 872.77 1/1 66 34 0 34 1.0 exonic rs10818740 OR1L6 AU nonsynonymous SNV NM_001004453 exon1 c.G662A p.R221Q 0.875399 0.999 0.3011 0.9914 0.65 T 0.0 P -0.755 T 0.458 P 0.061 P ID=COSM4163308;OCCURENCE=1(thyroid) Pathogenic 9_125512795_G->C 9 125512795 125512795 G C snp 953.77 1/1 72 35 0 35 1.0 exonic rs10818741 OR1L6 AU nonsynonymous SNV NM_001004453 exon1 c.G669C p.M223I 0.876997 0.999 0.3189 0.9959 0.36 T 0.0 P -0.828 T 0.0 T 0.0 T ID=COSM4163309;OCCURENCE=1(thyroid) Pathogenic 9_125512826_G->A 9 125512826 125512826 G A snp 1310.77 1/1 99 44 0 44 1.0 exonic rs28670025 OR1L6 AU nonsynonymous SNV NM_001004453 exon1 c.G700A p.G234R 0.869609 0.9335 0.9418 0.9999 0.03 T 0.987 P -0.863 T 0.635 T 0.196 P Pathogenic 9_125612130_AA->- 9 125612130 125612131 AA - indel 1039.73 0/1 99 49 20 29 0.59 intronic rs3049156 RC3H2 AU NM_001100588 exon1 c.196+29_196+30delAA 0.192692 0.5903 0.040486 0.1431 0.6178 Uncertain 9_125617037_G->A 9 125617037 125617037 G A snp 71.77 0/1 99 9 6 3 0.33 intronic rs1375862 RC3H2 AU NM_018835 exon3 c.742+143G>A 0.3125 0.6389 Uncertain 9_125620105_-->A 9 125620105 125620105 - A indel 983.73 1/1 78 26 0 26 1.0 intronic rs397732728 RC3H2 AU NM_018835 exon6 c.4049-96insA 0.973043 1 Uncertain 9_125637471_A->T 9 125637471 125637471 A T snp 3076.77 1/1 99 113 0 113 1.0 intronic rs2596699 RC3H2 AU NM_018835 exon10 c.23597-2278A>T 0.974042 1 0.9943 1 0 D 0.0 P -1.052 T Uncertain 9_125637648_T->C 9 125637648 125637648 T C snp 2127.77 1/1 99 73 0 73 1.0 intronic rs2596698 RC3H2 AU NM_018835 exon10 c.23597-2101T>C 0.974042 1 0.9955 1 0.0 P Uncertain 9_125640056_C->T 9 125640056 125640056 C T snp 50.74 1/1 6 2 0 2 1.0 intronic rs2792997 RC3H2 AU NM_018835 exon10 c.23710+194C>T 0.962859 1 Uncertain 9_125652757_G->A 9 125652757 125652757 G A snp 1058.77 0/1 99 97 50 47 0.48 exonic rs10818759 RC3H2 AU synonymous SNV NM_001100588 exon4 c.C417T p.N139N 0.325479 0.6419 0.172654 0.2067 0.6624 ID=COSM3763612,COSM3763613,COSM3763611;OCCURENCE=1(large_intestine) Uncertain 9_125659520_T->C 9 125659520 125659520 T C snp 2030.77 1/1 99 61 0 61 1.0 intronic rs2793005 RC3H2 AU NM_018835 exon17 c.43405-37T>C 0.973842 1 0.974916 0.9931 1 Uncertain 9_125673051_T->G 9 125673051 125673051 T G snp 1277.77 0/1 99 87 38 49 0.56 UTR3 rs1147321 ZBTB6 AU 0.59385 0.3026 0.748578 0.7681 0.3358 Uncertain 9_125746612_A->T 9 125746612 125746612 A T snp 40.77 0/1 69 5 3 2 0.4 intronic rs12337754 RABGAP1 AU NM_012197 exon3 c.27425-151A>T 0.195687 0.5992 Uncertain 9_125747038_G->T 9 125747038 125747038 G T snp 757.77 0/1 99 86 52 34 0.4 intronic rs614274 RABGAP1 AU NM_012197 exon3 c.27660+40G>T 0.494609 0.3115 0.630709 0.7315 0.3042 Uncertain 9_125747156_T->C 9 125747156 125747156 T C snp 237.77 0/1 51 9 2 7 0.78 intronic rs2302563 RABGAP1 AU NM_012197 exon3 c.27660+158T>C 0.189297 0.5992 Uncertain 9_125759862_TTTC->- 9 125759862 125759865 TTTC - indel 617.73 0/1 99 24 12 12 0.5 intronic rs138316961 RABGAP1 AU NM_012197 exon9 c.40302+222_40302+225delTTTC Uncertain 9_125760863_T->C 9 125760863 125760863 T C snp 1388.77 0/1 99 129 67 62 0.48 intronic rs587364 RABGAP1 AU NM_012197 exon10 c.41537-12T>C 0.492013 0.3105 0.630248 0.7241 0.2911 Uncertain 9_125761051_G->A 9 125761051 125761051 G A snp 697.77 0/1 99 38 11 27 0.71 splicing rs605546 RABGAP1 AU NM_012197 exon10 c.41707+6G>A 0.490815 0.3095 0.637308 0.7249 0.2934 Pathogenic 9_125797919_GTGTGTGTGT->- 9 125797919 125797928 GTGTGTGTGT - indel 1395.87 0/1 15 44 1 43 0.98 UTR3 rs72070566 GPR21 AU 0.2452 0.4934 Uncertain 9_125832879_T->C 9 125832879 125832879 T C snp 176.77 0/1 99 19 12 7 0.37 intronic rs803733 RABGAP1 AU NM_012197 exon15 c.113365+176T>C 0.496605 0.3224 Uncertain 9_125861695_T->C 9 125861695 125861695 T C snp 106.77 0/1 99 18 12 6 0.33 intronic rs700080 RABGAP1 AU NM_012197 exon24 c.142418-61T>C 0.586462 0.371 0.700175 Uncertain 9_125861888_A->G 9 125861888 125861888 A G snp 361.77 0/1 99 26 8 18 0.69 intronic rs700081 RABGAP1 AU NM_012197 exon24 c.142490+60A>G 0.681909 0.371 0.809023 Uncertain 9_125909975_A->C 9 125909975 125909975 A C snp 136.77 0/1 57 7 2 5 0.71 intronic STRBP AU NM_018387 exon8 c.22181-81A>C Uncertain 9_125920376_G->A 9 125920376 125920376 G A snp 1811.77 0/1 99 126 50 76 0.6 exonic rs803736 STRBP AU synonymous SNV NM_001171137 exon11 c.C918T p.G306G 0.483027 0.2798 0.627941 0.7131 0.2487 Uncertain 9_125922854_-->A 9 125922854 125922854 - A indel 665.73 1/1 66 25 0 25 1.0 intronic rs11437080 STRBP AU NM_018387 exon12 c.34866+113insA 0.961661 1 Uncertain 9_126028395_C->G 9 126028395 126028395 C G snp 2205.77 1/1 99 69 0 69 1.0 intronic rs7863265 STRBP AU NM_018387 exon19 c.142839-2319C>G 0.853235 0.9831 0 D 0.000 P -1.037 T Uncertain 9_126118518_GCAGAGC->- 9 126118518 126118524 GCAGAGC - indel 2139.73 0/1 99 46 20 26 0.57 UTR5 rs60364866 CRB2 AR 0.669329 0.6815 0.561245 0.7160 0.6981 Uncertain 9_126125318_C->A 9 126125318 126125318 C A snp 3723.77 1/1 99 135 0 135 1.0 exonic rs2808415 CRB2 AR nonsynonymous SNV NM_173689 exon2 c.C269A p.T90N 0.997005 1 0.997231 0.9993 1 1 T 0.0 P -0.902 T 0.0 T 0.0 T ID=COSM3763614,COSM3763615;OCCURENCE=1(large_intestine),1(thyroid) Pathogenic 9_126128211_T->C 9 126128211 126128211 T C snp 1049.77 0/1 99 90 44 46 0.51 exonic rs1105223 CRB2 AR nonsynonymous SNV NM_173689 exon3 c.T434C p.M145T 0.375399 0.4107 0.373609 0.3660 0.3922 0.82 T 0.0 P -1.091 T 0.0 T 0.0 T ID=COSM3750149,COSM3750148;OCCURENCE=3(large_intestine) Pathogenic 9_126128253_G->C 9 126128253 126128253 G C snp 1399.77 0/1 99 114 54 60 0.53 exonic rs1105222 CRB2 AR nonsynonymous SNV NM_173689 exon3 c.G476C p.G159A 0.315895 0.3889 0.310782 0.3435 0.3760 0.65 T 1.0 P -1.133 T 0.762 T 0.509 P ID=COSM3750150;OCCURENCE=1(thyroid),1(urinary_tract),7(large_intestine) Pathogenic 9_126128679_G->C 9 126128679 126128679 G C snp 61.77 0/1 90 12 8 4 0.33 intronic rs11790447 CRB2 AR NM_173689 exon4 c.10106+34G>C 0.322883 0.3919 0.316927 0.3686 0.3807 Uncertain 9_126129351_G->A 9 126129351 126129351 G A snp 1074.77 0/1 99 72 29 43 0.6 intronic rs10760281 CRB2 AR NM_173689 exon5 c.10911-99G>A 0.291733 0.3879 Uncertain 9_126129904_C->T 9 126129904 126129904 C T snp 289.77 0/1 99 37 22 15 0.41 exonic rs10818812 CRB2 AR synonymous SNV NM_173689 exon6 c.C993T p.N331N 0.283946 0.38 0.284931 0.4055 0.4780 ID=COSM3763617,COSM3763616;OCCURENCE=1(large_intestine) Uncertain 9_126131110_T->C 9 126131110 126131110 T C snp 954.77 1/1 69 37 0 37 1.0 intronic rs2488603 CRB2 AR NM_173689 exon6 c.11426+1145T>C 0.998003 1 Uncertain 9_126131161_G->A 9 126131161 126131161 G A snp 707.77 0/1 99 61 30 31 0.51 intronic rs10760282 CRB2 AR NM_173689 exon6 c.11426+1196G>A 0.277356 0.381 0.3516 0.3622 Uncertain 9_126132329_T->C 9 126132329 126132329 T C snp 1051.77 0/1 99 76 32 44 0.58 intronic rs7034379 CRB2 AR NM_173689 exon7 c.13847-57T>C 0.214457 0.256 Uncertain 9_126132919_G->A 9 126132919 126132919 G A snp 1481.77 0/1 99 141 81 60 0.43 exonic rs33984675 CRB2 AR synonymous SNV NM_173689 exon7 c.G1587A p.A529A 0.197684 0.252 0.236737 0.2625 0.2556 Uncertain 9_126133497_C->T 9 126133497 126133497 C T snp 3217.75 0/1 99 223 88 135 0.61 exonic rs13290763 CRB2 AR synonymous SNV NM_173689 exon8 c.C2076T p.S692S 0.195887 0.254 0.235968 0.2626 0.2565 Uncertain 9_126133547_T->C 9 126133547 126133547 T C snp 4268.77 1/1 99 150 0 150 1.0 exonic rs2488602 CRB2 AR nonsynonymous SNV NM_173689 exon8 c.T2126C p.V709A 0.996605 1 0.997232 0.9992 1 0.61 T 0.0 P -1.034 T 0.002 T 0.004 T Pathogenic 9_126134542_G->A 9 126134542 126134542 G A snp 1866.77 0/1 99 159 79 80 0.5 exonic rs61740213 CRB2 AR synonymous SNV NM_173689 exon9 c.G2523A p.T841T 0.329073 0.377 0.401276 0.4466 0.3819 ID=COSM3763619,COSM3763618;OCCURENCE=1(large_intestine),1(thyroid) Uncertain 9_126135715_A->G 9 126135715 126135715 A G snp 2334.77 1/1 99 76 0 76 1.0 exonic rs2488601 CRB2 AR nonsynonymous SNV NM_173689 exon10 c.A2905G p.T969A 0.976238 1 0.975472 0.9952 1 0.53 T 0.0 P -0.979 T 0.0 T 0.0 T Pathogenic 9_126136247_A->G 9 126136247 126136247 A G snp 411.77 0/1 99 32 15 17 0.53 intronic rs2488599 CRB2 AR NM_173689 exon10 c.17660+48A>G 0.449081 0.3661 0.320623 0.4229 0.3776 0.17 T 0.000 P -0.946 T 0.0 T 0.0 T Uncertain 9_126139065_G->A 9 126139065 126139065 G A snp 86.28 1/1 9 3 0 3 1.0 intronic rs10760283 CRB2 AR NM_173689 exon13 c.20577-51G>A 0.335463 0.369 0.427893 Uncertain 9_126144746_T->C 9 126144746 126144746 T C snp 2569.77 1/1 99 90 0 90 1.0 exonic rs2491348 DENND1A AU synonymous SNV NM_020946 exon22 c.A1995G p.G665G 0.978235 0.999 0.979702 0.9937 1 ID=COSM4163318,COSM4163319;OCCURENCE=1(thyroid) Uncertain 9_126144758_T->C 9 126144758 126144758 T C snp 2577.77 1/1 99 87 0 87 1.0 exonic rs2808409 DENND1A AU synonymous SNV NM_020946 exon22 c.A1983G p.S661S 0.998003 1 0.998385 0.9995 1 ID=COSM4163321,COSM4163320;OCCURENCE=1(thyroid) Uncertain 9_126145907_C->A 9 126145907 126145907 C A snp 2365.77 1/1 99 82 0 82 1.0 intronic rs2797946 DENND1A AU NM_020946 exon2 c.2223-26C>A 0.998003 1 0.998385 0.9995 1 Uncertain 9_126146197_C->G 9 126146197 126146197 C G snp 2882.77 1/1 99 100 0 100 1.0 splicing rs2808411 DENND1A AU NM_020946 exon2 c.2482+5C>G 0.88738 0.9653 0.885591 0.8919 0.9516 Pathogenic 9_126202551_A->C 9 126202551 126202551 A C snp 186.77 0/1 99 16 8 8 0.5 intronic rs10739633 DENND1A AU NM_024820 exon3 c.38550-87A>C 0.568291 0.6548 Uncertain 9_126214331_G->C 9 126214331 126214331 G C snp 83.77 0/1 28 4 1 3 0.75 intronic rs113083622 DENND1A AU NM_024820 exon5 c.50466-223G>C 0.0738818 0.0665 Uncertain 9_126219453_G->T 9 126219453 126219453 G T snp 48.74 1/1 6 2 0 2 1.0 intronic rs10760288 DENND1A AU NM_024820 exon7 c.55538-173G>T 0.990216 1 Uncertain 9_126439100_T->G 9 126439100 126439100 T G snp 1663.77 0/1 99 132 57 75 0.57 intronic rs12377595 DENND1A AU NM_024820 exon16 c.274980+32T>G 0.165136 0.0982 0.200446 0.2174 0.0958 Uncertain 9_126770250_C->G 9 126770250 126770250 C G snp 2740.77 0/1 99 193 86 107 0.55 intergenic rs10818907 DENND1A AU 0.34405 0.4345 0.3284 0.425 Uncertain 9_126783433_G->C 9 126783433 126783433 G C snp 3121.77 0/1 99 250 131 119 0.48 exonic rs1042486 LHX2 AU synonymous SNV NM_004789 exon4 c.G783C p.P261P 0.359026 0.4286 0.380747 0.4235 0.4242 1.000 P -0.999 T Likely benign 9_126794648_G->A 9 126794648 126794648 G A snp 1027.77 0/1 99 63 24 39 0.62 intronic rs10986179 LHX2 AU NM_004789 exon5 c.20071-50G>A 0.183906 0.122 0.258050 0.2734 0.0952 Uncertain 9_127032607_A->G 9 127032607 127032607 A G snp 2630.77 1/1 99 93 0 93 1.0 intronic rs1045774 NEK6 AU NM_001166167 exon1 c.25+12607A>G 0.313898 0.2768 Uncertain 9_127034358_G->C 9 127034358 127034358 G C snp 165.9 1/1 15 5 0 5 1.0 intronic rs35956754 NEK6 AU NM_001166167 exon1 c.25+14358G>C 0.275958 0.1905 Uncertain 9_127075021_T->C 9 127075021 127075021 T C snp 477.77 1/1 36 15 0 15 1.0 intronic rs2274780 NEK6 AU NM_001145001 exon4 c.19709+93T>C 0.580871 0.6558 Uncertain 9_127083725_C->T 9 127083725 127083725 C T snp 3214.74 1/1 99 122 0 122 1.0 intronic rs10760352 NEK6 AU NM_001145001 exon6 c.28518-12C>T 0.551518 0.6756 0.476011 0.4851 0.6785 Uncertain 9_127089775_A->G 9 127089775 127089775 A G snp 4369.77 1/1 99 154 0 154 1.0 intronic rs748741 NEK6 AU NM_001145001 exon8 c.34505+51A>G 0.305711 0.1925 0.360812 0.3408 0.2069 Uncertain 9_127101924_C->T 9 127101924 127101924 C T snp 6787.77 1/1 99 250 0 250 1.0 exonic rs10760354 NEK6 AU synonymous SNV NM_001166167 exon8 c.C751T p.L251L 0.921526 1 0.920498 0.9755 0.9995 Uncertain 9_127116102_T->G 9 127116102 127116102 T G snp 616.77 1/1 45 22 0 22 1.0 ncRNA_exonic rs10818946 LOC100129034 AU 0.328674 0.2123 Uncertain 9_127177161_A->G 9 127177161 127177161 A G snp 2048.77 1/1 99 76 0 76 1.0 exonic rs4574 PSMB7 AU nonsynonymous SNV NM_002799 exon2 c.T116C p.V39A 0.414936 0.2262 0.493003 0.4076 0.2418 1 T 0.000 P -0.934 T 0.0 T 0.0 T ID=COSM3763624,COSM3763625;OCCURENCE=1(large_intestine) Pathogenic 9_127214786_T->A 9 127214786 127214786 T A snp 1937.77 1/1 99 69 0 69 1.0 intergenic rs79166149 PSMB7 AU 0.0081869 0.0357 0.0035 0.0471 0 D 1 D Uncertain 9_127245412_C->T 9 127245412 127245412 C T snp 1108.77 1/1 81 38 0 38 1.0 intronic rs7037254 NR5A1 AU,AD,AR NM_004959 exon1 c.248+128C>T 0.335264 0.247 Uncertain 9_127561723_G->A 9 127561723 127561723 G A snp 2031.77 1/1 99 73 1 72 0.99 exonic rs79134766 OLFML2A AU nonsynonymous SNV NM_182487 exon4 c.G622A p.A208T 0.0115815 0.0327 0.000884 0.0136 0.0568 0.07 T 1 D -1.097 T 0.72 T 0.089 P Pathogenic 9_127572710_C->G 9 127572710 127572710 C G snp 4535.77 1/1 99 151 2 149 0.99 UTR3 rs7020260 OLFML2A AU 0.980032 1 0.977853 0.9937 1 Uncertain 9_127615976_G->A 9 127615976 127615976 G A snp 864.77 0/1 99 91 50 41 0.45 intronic rs3814132 WDR38 AU NM_001045476 exon1 c.69+97G>A 0.411542 0.5784 Uncertain 9_127615995_A->G 9 127615995 127615995 A G snp 2047.77 1/1 99 80 0 80 1.0 intronic rs3814131 WDR38 AU NM_001045476 exon1 c.69+116A>G 0.53115 0.7619 Uncertain 9_127616323_G->C 9 127616323 127616323 G C snp 213.77 0/1 99 17 10 7 0.41 intronic rs10760380 WDR38 AU NM_001045476 exon2 c.673-160G>C 0.493011 0.626 Uncertain 9_127616537_A->G 9 127616537 127616537 A G snp 2969.77 0/1 99 250 127 123 0.49 exonic rs12375547 WDR38 AU nonsynonymous SNV NM_001276376 exon2 c.A29G p.K10R 0.452676 0.5804 0.447818 0.4199 0.5799 ID=COSM3982733;OCCURENCE=1(thyroid) Pathogenic 9_127618776_A->G 9 127618776 127618776 A G snp 1755.77 0/1 99 125 50 75 0.6 exonic rs2274970 WDR38 AU nonsynonymous SNV NM_001276376 exon5 c.A368G p.H123R 0.900958 0.7688 0.958978 0.9586 0.7624 0.95 T 0.000 P -0.981 T 0.0 T 0.0 T Pathogenic 9_127618839_C->G 9 127618839 127618839 C G snp 3824.77 1/1 99 144 0 144 1.0 exonic rs10760381 WDR38 AU nonsynonymous SNV NM_001276376 exon5 c.C431G p.A144G 0.982029 1 0.979343 0.9944 1 0.91 T 0.000 P -0.937 T 0.0 T 0.0 T Pathogenic 9_127619553_C->G 9 127619553 127619553 C G snp 216.77 0/1 99 19 11 8 0.42 intronic rs10819000 WDR38 AU NM_001276376 exon7 c.3134-89C>G 0.494409 0.3839 Uncertain 9_127619625_-->C 9 127619625 127619625 - C indel 787.73 0/1 99 63 33 30 0.48 intronic rs35041146 WDR38 AU NM_001276376 exon7 c.3134-17insC 0.864217 0.7371 0.945881 0.9347 0.7429 Uncertain 9_127619922_T->C 9 127619922 127619922 T C snp 1317.77 0/1 99 97 47 50 0.52 UTR3 rs944952 WDR38 AU 0.898962 0.7688 0.956875 0.9581 0.7645 Uncertain 9_127637215_T->G 9 127637215 127637215 T G snp 218.77 0/1 99 25 16 9 0.36 intronic rs581558 ARPC5L AU NM_030978 exon3 c.5684-38T>G 0.910543 0.8234 0.955175 0.9613 0.8069 Uncertain 9_127644882_G->A 9 127644882 127644882 G A snp 5216.77 1/1 99 184 0 184 1.0 intronic rs596231 GOLGA1 AU NM_002077 exon4 c.2040+34G>A 0.982029 1 0.978548 0.9943 1 Uncertain 9_127661521_T->C 9 127661521 127661521 T C snp 1202.77 1/1 87 36 0 36 1.0 intronic rs750884 GOLGA1 AU NM_002077 exon10 c.18799-86T>C 0.982428 1 Uncertain 9_127661526_A->C 9 127661526 127661526 A C snp 1316.77 1/1 96 44 0 44 1.0 intronic rs750883 GOLGA1 AU NM_002077 exon10 c.18799-81A>C 0.982428 1 Uncertain 9_127661645_G->A 9 127661645 127661645 G A snp 1183.77 0/1 99 96 49 47 0.49 exonic rs634710 GOLGA1 AU nonsynonymous SNV NM_002077 exon14 c.C1274T p.T425M 0.40016 0.5694 0.382158 0.4148 0.5435 0.08 T 0.0 P -0.965 T 0.968 D 0.197 D ID=COSM3763634;OCCURENCE=1(large_intestine) Pathogenic 9_127674200_A->C 9 127674200 127674200 A C snp 5024.77 1/1 99 184 0 184 1.0 exonic rs583134 GOLGA1 AU nonsynonymous SNV NM_002077 exon11 c.T949G p.L317V 0.982827 1 0.978933 0.9943 1 0.65 T 0.0 P -0.970 T 0.0 T 0.0 T Pathogenic 9_127685506_T->C 9 127685506 127685506 T C snp 1427.77 0/1 99 133 73 60 0.45 splicing rs9644946 GOLGA1 AU NM_002077 exon16 c.42694+4T>C 0.052516 0.1329 0.003767 0.0341 0.1595 Pathogenic 9_127685510_A->G 9 127685510 127685510 A G snp 1605.77 0/1 99 131 59 72 0.55 intronic rs79839361 GOLGA1 AU NM_002077 exon16 c.42694+8A>G 0.0822684 0.2351 0.021221 0.0360 0.2399 Uncertain 9_127733926_C->T 9 127733926 127733926 C T snp 4105.77 1/1 99 146 0 146 1.0 intronic rs2289631 SCAI AU NM_173690 exon3 c.18864-23C>T 0.64996 0.6389 0.601695 0.6276 0.6452 Uncertain 9_127757310_C->T 9 127757310 127757310 C T snp 3749.77 1/1 99 130 0 130 1.0 intronic rs6478690 SCAI AU NM_173690 exon5 c.42209+16C>T 0.684305 0.6399 0.633762 0.6453 0.6540 Uncertain 9_127765978_T->C 9 127765978 127765978 T C snp 101.77 0/1 64 6 2 4 0.67 intronic rs4837005 SCAI AU NM_173690 exon9 c.50764+129T>C 0.395367 0.3323 Uncertain 9_127781259_G->A 9 127781259 127781259 G A snp 672.77 0/1 99 51 29 22 0.43 intronic rs1017530 SCAI AU NM_173690 exon10 c.66145+29G>A 0.240415 0.2222 0.191443 0.2150 0.2461 Uncertain 9_127904740_G->C 9 127904740 127904740 G C snp 265.77 0/1 99 17 6 11 0.65 intronic rs974826 SCAI AU NM_173690 exon18 c.189826-171G>C 0.455072 0.5397 Uncertain 9_127934350_A->C 9 127934350 127934350 A C snp 543.77 0/1 99 39 15 24 0.62 intronic rs2416954 PPP6C AU NM_001123355 exon6 c.21508+891A>C 0.16254 0.2321 Uncertain 9_127951863_G->A 9 127951863 127951863 G A snp 1299.77 0/1 99 104 49 55 0.53 exonic rs466994 PPP6C AU synonymous SNV NM_001123355 exon1 c.C135T p.F45F 0.455072 0.5417 0.4605 0.5617 Uncertain 9_127962916_G->A 9 127962916 127962916 G A snp 2129.77 0/1 99 137 56 81 0.59 UTR5 rs501963 RABEPK AU 0.497604 0.619 0.4774 0.5872 Uncertain 9_127969785_G->A 9 127969785 127969785 G A snp 617.77 0/1 99 54 27 27 0.5 intronic rs420423 RABEPK AU NM_001174153 exon4 c.4550-57G>A 0.537939 0.6488 Uncertain 9_127970114_C->A 9 127970114 127970114 C A snp 31.77 0/1 60 9 7 2 0.22 intronic rs472533 RABEPK AU NM_001174153 exon4 c.4708+114C>A 0.521366 0.62 Uncertain 9_127975583_T->C 9 127975583 127975583 T C snp 1040.77 1/1 75 32 0 32 1.0 intronic rs359588 RABEPK AU NM_001174152 exon5 c.10356-65T>C 0.982029 1 Uncertain 9_127982776_T->- 9 127982776 127982776 T - indel 4585.73 0/1 99 241 116 125 0.52 intronic rs35811664 RABEPK AU NM_001174153 exon5 c.17525-41delT 0.520168 0.4663 0.509984 0.5777 0.4717 Uncertain 9_127995131_C->A 9 127995131 127995131 C A snp 227.77 0/1 99 16 7 9 0.56 intronic rs10986661 RABEPK AU NM_001174153 exon7 c.29732+107C>A 0.134984 0.1369 Uncertain 9_127996046_A->G 9 127996046 127996046 A G snp 2248.77 0/1 99 207 108 99 0.48 exonic rs599063 RABEPK AU synonymous SNV NM_001174153 exon8 c.A753G p.P251P 0.134984 0.1369 0.112333 0.0951 0.1553 ID=COSM3763638;OCCURENCE=1(large_intestine) Uncertain 9_128001119_C->T 9 128001119 128001119 C T snp 3333.77 0/1 99 250 128 122 0.49 intronic rs430397 HSPA5 AU NM_005347 exon3 c.2236+13C>T 0.133986 0.1369 0.110872 0.0946 0.1549 Uncertain 9_128064490_C->T 9 128064490 128064490 C T snp 2824.77 0/1 99 250 134 116 0.46 exonic GAPVD1 AU synonymous SNV NM_001282681 exon2 c.C414T p.G138G 1 D -0.710 T Likely benign 9_128070227_G->C 9 128070227 128070227 G C snp 554.77 0/1 99 30 12 18 0.6 intronic rs1333055 GAPVD1 AU NM_001282680 exon8 c.8959+68G>C 0.541733 0.5704 0.5451 0.6048 Uncertain 9_128072273_G->C 9 128072273 128072273 G C snp 899.77 0/1 99 72 35 37 0.51 intronic rs568409 GAPVD1 AU NM_001282680 exon8 c.8959+2114G>C 0.552316 0.5665 0.5336 0.5163 1.0 P -0.922 T Uncertain 9_128074807_T->C 9 128074807 128074807 T C snp 3602.77 1/1 99 136 0 136 1.0 exonic rs432757 GAPVD1 AU synonymous SNV NM_001282681 exon6 c.T1518C p.I506I 0.98143 1 0.958942 0.9664 1 1.0 P -1.011 T Likely benign 9_128112896_G->A 9 128112896 128112896 G A snp 94.28 1/1 9 3 0 3 1.0 intronic rs10986718 GAPVD1 AU NM_001282680 exon23 c.51791-95G>A 0.540136 0.5685 Uncertain 9_128116817_A->G 9 128116817 128116817 A G snp 129.77 0/1 99 19 13 6 0.32 intronic rs937482 GAPVD1 AU NM_001282680 exon24 c.55732-115A>G 0.482228 0.4603 Uncertain 9_128201098_A->G 9 128201098 128201098 A G snp 1489.77 1/1 99 55 0 55 1.0 UTR3 rs7864593 MAPKAP1 AU 0.9998 1 Uncertain 9_128206717_C->G 9 128206717 128206717 C G snp 2262.77 1/1 99 72 0 72 1.0 intronic rs907501 MAPKAP1 AU NM_024117 exon2 c.5614-62C>G 0.959065 1 Uncertain 9_128321771_T->C 9 128321771 128321771 T C snp 135.03 1/1 12 4 0 4 1.0 intronic rs562004 MAPKAP1 AU NM_024117 exon6 c.120746-140T>C 0.527157 0.623 Uncertain 9_128327891_A->C 9 128327891 128327891 A C snp 2243.77 1/1 99 100 1 99 0.99 intronic rs545320 MAPKAP1 AU NM_024117 exon6 c.120923+5803A>C 0.879992 1 Uncertain 9_128711809_A->G 9 128711809 128711809 A G snp 648.77 0/1 99 28 7 21 0.75 intronic rs13298715 PBX3 AU NM_001134778 exon6 c.212109-11153A>G 0.541334 0.6071 Uncertain 9_128724304_A->C 9 128724304 128724304 A C snp 1171.77 0/1 99 101 48 53 0.52 intronic rs888230 PBX3 AU NM_001134778 exon7 c.213527-76A>C 0.646166 0.7599 Uncertain 9_128725366_C->T 9 128725366 128725366 C T snp 633.77 0/1 99 66 35 31 0.47 exonic rs114191763 PBX3 AU nonsynonymous SNV NM_006195 exon8 c.C1198T p.P400S 0.00179712 0.0089 0.0002 0.0031 0.05 T 1 D 0.065 D 0.043 T 0.043 T Pathogenic 9_129097817_G->A 9 129097817 129097817 G A snp 702.77 1/1 51 23 0 23 1.0 intronic rs1230752 MVB12B AU NM_033446 exon2 c.13578-4969G>A 0.994808 1 Uncertain 9_129102840_G->A 9 129102840 129102840 G A snp 1474.77 0/1 99 127 58 69 0.54 exonic rs1888156 MVB12B AU synonymous SNV NM_001011703 exon2 c.G135A p.T45T 0.314896 0.2897 0.332769 0.3235 0.2967 ID=COSM4163335,COSM4163334;OCCURENCE=1(thyroid) Uncertain 9_129102994_G->A 9 129102994 129102994 G A snp 146.77 0/1 99 17 9 8 0.47 intronic rs10987251 MVB12B AU NM_033446 exon2 c.13701+85G>A 0.284744 0.2897 Uncertain 9_129143242_A->G 9 129143242 129143242 A G snp 358.77 0/1 51 15 3 12 0.8 intronic rs917778 MVB12B AU NM_033446 exon3 c.54134-100A>G 0.787141 0.5546 Uncertain 9_129143315_A->G 9 129143315 129143315 A G snp 1195.77 0/1 99 82 32 50 0.61 intronic rs917777 MVB12B AU NM_033446 exon3 c.54134-27A>G 0.627995 0.4504 0.654928 0.6222 0.4617 Uncertain 9_129143435_A->G 9 129143435 129143435 A G snp 1531.77 0/1 99 100 34 66 0.66 exonic rs2286889 MVB12B AU synonymous SNV NM_001011703 exon3 c.A297G p.S99S 0.129593 0.2639 0.081116 0.1282 0.2729 ID=COSM4163338,COSM4163337;OCCURENCE=1(thyroid) Uncertain 9_129184091_T->C 9 129184091 129184091 T C snp 2821.77 0/1 99 250 133 117 0.47 intronic rs2286888 MVB12B AU NM_033446 exon7 c.94924-41T>C 0.175319 0.4137 0.123097 0.1620 0.3862 Uncertain 9_129246177_T->C 9 129246177 129246177 T C snp 3619.77 1/1 99 133 0 133 1.0 intronic rs2286886 MVB12B AU NM_033446 exon9 c.157043-74T>C 0.458067 0.755 Uncertain 9_129265271_A->G 9 129265271 129265271 A G snp 142.77 0/1 99 23 17 6 0.26 intronic rs28562924 MVB12B AU NM_033446 exon10 c.176247-184A>G 0.238818 0.1458 Uncertain 9_129265334_C->T 9 129265334 129265334 C T snp 742.77 0/1 99 77 47 30 0.39 intronic rs28641758 MVB12B AU NM_033446 exon10 c.176247-121C>T 0.50639 0.3006 Uncertain 9_129265397_G->A 9 129265397 129265397 G A snp 2130.77 0/1 99 188 95 93 0.49 intronic rs45520335 MVB12B AU NM_033446 exon10 c.176247-58G>A 0.519169 0.3006 Uncertain 9_129453229_A->G 9 129453229 129453229 A G snp 6269.77 1/1 99 243 0 243 1.0 exonic rs2277158 LMX1B AD synonymous SNV NM_002316 exon3 c.A441G p.E147E 0.480032 0.5585 0.462556 0.4496 0.5517 ID=COSM3763641,COSM3763642,COSM3763643;OCCURENCE=1(large_intestine) Uncertain 9_129455372_C->T 9 129455372 129455372 C T snp 775.77 1/1 57 30 0 30 1.0 intronic rs34682917 LMX1B AD NM_001174147 exon4 c.78692-48C>T 0.151358 0.3571 0.073465 0.1026 0.3658 Uncertain 9_129455587_G->C 9 129455587 129455587 G C snp 925.77 1/1 30 39 1 38 0.97 exonic rs13295990 LMX1B AD synonymous SNV NM_002316 exon4 c.G726C p.S242S 0.439297 0.5575 0.417591 0.4702 0.5796 Uncertain 9_129458092_G->T 9 129458092 129458092 G T snp 2115.77 1/1 99 74 0 74 1.0 intronic rs3737048 LMX1B AD NM_001174147 exon7 c.81389-25G>T 0.249601 0.3571 0.197846 0.1719 0.3701 Uncertain 9_129595667_C->T 9 129595667 129595667 C T snp 3122.77 0/1 99 250 131 119 0.48 exonic rs80025775 ZBTB43 AU synonymous SNV NM_001135776 exon2 c.C879T p.I293I 0.108027 0.3899 0.003229 0.0507 0.4072 ID=COSM3750152;OCCURENCE=2(large_intestine) Uncertain 9_129595895_T->C 9 129595895 129595895 T C snp 5718.77 1/1 99 180 0 180 1.0 exonic rs3118994 ZBTB43 AU synonymous SNV NM_001135776 exon2 c.T1107C p.T369T 0.842452 0.9732 0.799785 0.7949 0.9765 Uncertain 9_129643296_G->T 9 129643296 129643296 G T snp 189.77 0/1 99 13 6 7 0.54 UTR3 rs10819246 ZBTB34 AU 0.173323 0.3839 Uncertain 9_129728012_T->A 9 129728012 129728012 T A snp 863.77 0/1 99 69 33 36 0.52 intronic rs10819257 RALGPS1 AU NM_001190729 exon3 c.3554-110T>A 0.235423 0.4226 Uncertain 9_129728336_G->A 9 129728336 129728336 G A snp 1505.77 1/1 99 41 0 41 1.0 intronic rs480796 RALGPS1 AU NM_001190729 exon3 c.3662+106G>A 0.580072 0.8185 Uncertain 9_129740101_G->T 9 129740101 129740101 G T snp 5542.77 1/1 99 205 0 205 1.0 intronic rs10819259 RALGPS1 AU NM_001190729 exon4 c.15456+77G>T 0.580272 0.8185 0.570521 Uncertain 9_129752239_C->T 9 129752239 129752239 C T snp 3347.77 0/1 99 250 114 136 0.54 intronic rs10819260 RALGPS1 AU NM_001190729 exon4 c.15456+12215C>T 0.23103 0.4226 0.2719 0.4547 0.08 T 0.0 P -0.942 T Uncertain 9_129814981_A->T 9 129814981 129814981 A T snp 42.77 0/1 33 3 1 2 0.67 intronic rs62580846 RALGPS1 AU NM_001190729 exon7 c.90557-144A>T 0.292332 0.3056 Uncertain 9_129831456_C->- 9 129831456 129831456 C - indel 617.73 0/1 99 39 22 17 0.44 intronic rs3832609 RALGPS1 AU NM_001190729 exon8 c.106940-52delC 0.286542 0.2986 Uncertain 9_129831659_T->A 9 129831659 129831659 T A snp 6065.77 1/1 99 234 1 233 1.0 intronic rs1281158 RALGPS1 AU NM_001190729 exon8 c.107067+24T>A 1 1 0.999692 1.0000 1 0.0 P -1.012 T Uncertain 9_129854199_G->A 9 129854199 129854199 G A snp 896.77 0/1 99 106 64 42 0.4 exonic rs2297866 ANGPTL2 AU synonymous SNV NM_012098 exon4 c.C1032T p.D344D 0.290535 0.2966 0.361910 0.4189 0.2729 ID=COSM3763644;OCCURENCE=1(large_intestine) Uncertain 9_129928600_A->C 9 129928600 129928600 A C snp 968.77 1/1 72 34 0 34 1.0 intronic rs946430 RALGPS1 AU NM_001190729 exon9 c.203917+115A>C 0.985224 1 Uncertain 9_129930892_A->G 9 129930892 129930892 A G snp 919.77 0/1 99 84 49 35 0.42 intronic rs2297865 RALGPS1 AU NM_001190729 exon10 c.206389-65A>G 0.289736 0.3006 Uncertain 9_129940379_T->C 9 129940379 129940379 T C snp 188.77 0/1 99 14 8 6 0.43 UTR3 rs3739556 RALGPS1 AU 0.502796 0.3929 Uncertain 9_129961152_C->T 9 129961152 129961152 C T snp 328.77 0/1 99 30 19 11 0.37 intronic rs875382 RALGPS1 AU NM_014636 exon14 c.236725-141C>T 0.253395 0.4405 Uncertain 9_130073746_C->T 9 130073746 130073746 C T snp 97.77 0/1 99 10 6 4 0.4 intronic rs10513481 GARNL3 AU NM_032293 exon3 c.46758-168C>T 0.136182 0.246 Uncertain 9_130076034_G->T 9 130076034 130076034 G T snp 46.77 0/1 33 5 2 3 0.6 intronic rs45448695 GARNL3 AU NM_032293 exon4 c.48682+196G>T 0.142173 0.246 Uncertain 9_130080231_G->A 9 130080231 130080231 G A snp 1617.77 0/1 99 90 35 55 0.61 intronic rs56067901 GARNL3 AU NM_032293 exon5 c.53185-110G>A 0.134784 0.245 Uncertain 9_130080561_C->T 9 130080561 130080561 C T snp 341.77 0/1 99 15 5 10 0.67 intronic rs62578839 GARNL3 AU NM_032293 exon5 c.53250+155C>T 0.135184 0.245 Uncertain 9_130082872_A->C 9 130082872 130082872 A C snp 792.77 0/1 99 64 34 30 0.47 intronic rs3739558 GARNL3 AU NM_032293 exon6 c.55837-121A>C 0.215256 0.3333 Uncertain 9_130083140_T->G 9 130083140 130083140 T G snp 228.77 0/1 99 16 8 8 0.5 intronic rs3739557 GARNL3 AU NM_032293 exon6 c.55901+83T>G 0.186302 0.253 Uncertain 9_130087508_C->T 9 130087508 130087508 C T snp 1276.77 0/1 99 113 63 50 0.44 intronic rs62578844 GARNL3 AU NM_032293 exon7 c.60218+134C>T 0.135783 0.246 Uncertain 9_130097842_A->G 9 130097842 130097842 A G snp 153.77 0/1 61 7 2 5 0.71 intronic rs7855101 GARNL3 AU NM_032293 exon10 c.70456+230A>G 0.618211 0.756 Uncertain 9_130100305_G->A 9 130100305 130100305 G A snp 1691.77 0/1 99 143 75 68 0.48 intronic rs3802370 GARNL3 AU NM_032293 exon12 c.73238-89G>A 0.187899 0.2123 Uncertain 9_130106778_C->T 9 130106778 130106778 C T snp 225.77 0/1 99 15 7 8 0.53 intronic rs7863063 GARNL3 AU NM_032293 exon15 c.79462+160C>T 0.377796 0.3581 Uncertain 9_130117861_C->A 9 130117861 130117861 C A snp 245.77 0/1 99 26 15 11 0.42 intronic rs58473776 GARNL3 AU NM_032293 exon20 c.90595+110C>A 0.232628 0.2173 Uncertain 9_130149403_G->A 9 130149403 130149403 G A snp 276.77 0/1 99 23 9 14 0.61 intronic rs4837149 GARNL3 AU NM_032293 exon25 c.122315-68G>A 0.477236 0.5585 Uncertain 9_130155257_T->G 9 130155257 130155257 T G snp 169.77 0/1 99 13 7 6 0.46 intronic rs4074695 GARNL3 AU NM_032293 exon28 c.128205-104T>G 0.534744 0.6101 Uncertain 9_130155331_A->G 9 130155331 130155331 A G snp 565.77 0/1 99 59 32 27 0.46 intronic rs7864853 GARNL3 AU NM_032293 exon28 c.128205-30A>G 0.534744 0.6111 0.519606 0.5455 0.5899 Uncertain 9_130164818_T->C 9 130164818 130164818 T C snp 299.77 0/1 99 16 5 11 0.69 intronic rs3802367 SLC2A8 AU NM_014580 exon5 c.5326-17T>C 0.733826 0.7431 0.725707 0.7975 0.7338 Uncertain 9_130166382_C->G 9 130166382 130166382 C G snp 3391.77 1/1 99 118 0 118 1.0 intronic rs10819287 SLC2A8 AU NM_014580 exon7 c.6837+36C>G 0.913339 0.7937 0.950419 0.9455 0.7931 Uncertain 9_130166383_G->T 9 130166383 130166383 G T snp 1099.77 0/1 99 119 71 48 0.4 intronic rs11788710 SLC2A8 AU NM_014580 exon7 c.6837+37G>T 0.000388 0.2570 0.2669 Uncertain 9_130198177_C->T 9 130198177 130198177 C T snp 1061.77 0/1 99 92 49 43 0.47 intronic rs143127319 ZNF79 AU NM_001286697 exon5 c.7020-9C>T 0.00798722 0.0397 0.0027 0.0372 Uncertain 9_130223560_G->A 9 130223560 130223560 G A snp 693.77 0/1 99 67 36 31 0.46 intronic rs117528271 LRSAM1 AR,AD NM_001005373 exon8 c.6730+24G>A 0.0129792 0.0635 0.0045 0.0600 Uncertain 9_130279308_G->A 9 130279308 130279308 G A snp 1170.77 0/1 99 129 72 57 0.44 intronic rs201108907 FAM129B AU NM_022833 exon7 c.10175+10G>A 0.00758786 0.0377 0.0026 0.0355 Uncertain 9_130287472_G->T 9 130287472 130287472 G T snp 1223.77 0/1 99 118 69 49 0.42 intronic rs3765601 FAM129B AU NM_022833 exon11 c.18319+30G>T 0.0109824 0.0456 0.000538 0.0065 0.0449 Uncertain 9_130289615_C->G 9 130289615 130289615 C G snp 1160.77 0/1 99 109 54 55 0.5 intronic rs2243558 FAM129B AU NM_022833 exon12 c.20478+14C>G 0.577276 0.4028 0.641319 0.6307 0.3780 Uncertain 9_130331096_C->T 9 130331096 130331096 C T snp 539.77 0/1 99 58 33 25 0.43 splicing rs116853240 FAM129B AU NM_022833 exon14 c.61975-2C>T 0.0147764 0.0675 0.0107 0.1591 Pathogenic 9_130331258_CCGCTCCCG->- 9 130331258 130331266 CCGCTCCCG - indel 1145.73 ./1 99 24 0 24 1.0 UTR5 rs151147273 FAM129B AU 0.749002 0.6399 Uncertain 9_130331257_-->CCGCTCCCG 9 130331257 130331257 - CCGCTCCCG indel 1145.73 ./1 99 24 0 24 1.0 UTR5 FAM129B AU Uncertain 9_130341095_C->T 9 130341095 130341095 C T snp 642.77 0/1 99 63 32 31 0.49 intronic rs4240419 FAM129B AU NM_001035534 exon14 c.72077-105C>T 0.717252 0.6399 Uncertain 9_130341253_A->G 9 130341253 130341253 A G snp 3280.77 1/1 99 133 0 133 1.0 UTR5 rs4240420 FAM129B AU 0.832468 0.7133 0.840612 0.8177 0.7311 Uncertain 9_130341359_A->G 9 130341359 130341359 A G snp 364.77 1/1 30 12 0 12 1.0 upstream rs4240421 FAM129B AU 0.789537 0.7103 Uncertain 9_130415825_T->C 9 130415825 130415825 T C snp 549.77 0/1 99 29 9 20 0.69 intronic rs114295222 STXBP1 AD NM_003165 exon3 c.41311-168T>C 0.0203674 0.0645 Uncertain 9_130420813_G->T 9 130420813 130420813 G T snp 74.77 0/1 99 7 4 3 0.43 intronic rs2287116 STXBP1 AD NM_003165 exon4 c.46048+83G>T 0.256589 0.1121 Uncertain 9_130422128_G->A 9 130422128 130422128 G A snp 232.77 0/1 99 20 12 8 0.4 intronic rs17849177 STXBP1 AD NM_003165 exon5 c.47626-180G>A 0.0746805 0.0645 Uncertain 9_130423271_-->A 9 130423271 130423271 - A indel 110.73 0/1 99 23 11 12 0.52 intronic STXBP1 AD NM_003165 exon6 c.48698-109insA Uncertain 9_130427414_A->G 9 130427414 130427414 A G snp 108.77 0/1 99 10 6 4 0.4 intronic rs17849179 STXBP1 AD NM_003165 exon8 c.52843-111A>G 0.0732827 0.0645 Uncertain 9_130428377_G->A 9 130428377 130428377 G A snp 186.77 0/1 99 13 7 6 0.46 intronic STXBP1 AD NM_003165 exon9 c.53762-67G>A Uncertain 9_130428617_C->T 9 130428617 130428617 C T snp 1684.77 0/1 99 158 86 72 0.46 intronic rs17849182 STXBP1 AD NM_003165 exon9 c.53893+42C>T 0.0139776 0.0645 0.000231 0.0060 0.0687 Uncertain 9_130430203_T->A 9 130430203 130430203 T A snp 889.77 0/1 99 81 47 34 0.42 intronic rs2241168 STXBP1 AD NM_003165 exon10 c.55676-155T>A 0.0139776 0.0645 Uncertain 9_130442323_C->G 9 130442323 130442323 C G snp 822.77 0/1 99 84 50 34 0.4 intronic rs17849184 STXBP1 AD NM_003165 exon17 c.67753-112C>G 0.0139776 0.0645 Uncertain 9_130442342_G->T 9 130442342 130442342 G T snp 1007.77 0/1 99 112 68 44 0.39 intronic rs79735301 STXBP1 AD NM_003165 exon17 c.67753-93G>T 0.0139776 0.0645 Uncertain 9_130444661_TC->- 9 130444661 130444662 TC - indel 986.73 0/1 99 56 30 26 0.46 intronic rs145978705 STXBP1 AD NM_003165 exon18 c.70002-23_70002-22delTC 0.0139776 0.0645 0.001917 0.0060 0.0687 Uncertain 9_130444878_C->T 9 130444878 130444878 C T snp 106.77 0/1 99 13 8 5 0.38 intronic rs17849185 STXBP1 AD NM_003165 exon18 c.70157+39C>T 0.0255591 0.121 0.001076 0.0132 0.1372 Uncertain 9_130446493_A->G 9 130446493 130446493 A G snp 876.77 1/1 66 24 0 24 1.0 intronic rs4836575 STXBP1 AD NM_003165 exon19 c.71964-153A>G 0.659744 0.3671 Uncertain 9_130457332_-->TGATGA 9 130457332 130457332 - TGATGA indel 6348.73 ./1 99 213 1 212 1.0 intergenic rs138071672 STXBP1 AD 0.0791 0.1304 Uncertain 9_130457332_-->TGA 9 130457332 130457332 - TGA indel 6348.73 ./1 99 213 1 212 1.0 intergenic rs138071672 STXBP1 AD 0.307508 0.1825 0.3839 0.2446 Uncertain 9_130457374_G->A 9 130457374 130457374 G A snp 185.77 0/1 99 103 85 18 0.17 intergenic rs752127970 STXBP1 AD 0.0025 0 Uncertain 9_130467000_A->G 9 130467000 130467000 A G snp 631.77 0/1 99 52 27 25 0.48 intergenic rs74392877 STXBP1 AD 0.014377 0.0665 Uncertain 9_130474932_C->G 9 130474932 130474932 C G snp 2522.77 0/1 99 211 107 104 0.49 intronic rs73600054 C9orf117 AU NM_001012502 exon7 c.5677-55C>G 0.0792732 0.0694 0.0265 0.0772 0.17 T 0.0 P -1.057 T Uncertain 9_130475011_T->C 9 130475011 130475011 T C snp 7785.77 1/1 99 249 0 249 1.0 exonic rs522328 C9orf117 AU synonymous SNV NM_001012502 exon7 c.T1161C p.S387S 0.63738 0.3651 0.663554 0.6011 0.3593 Uncertain 9_130475442_A->C 9 130475442 130475442 A C snp 835.77 0/1 99 76 43 33 0.43 exonic rs497632 C9orf117 AU nonsynonymous SNV NM_001012502 exon8 c.A1448C p.Y483S 0.536741 0.2966 0.580804 0.5716 0.2893 0.42 T 0.0 P -0.939 T 0.014 T 0.014 T ID=COSM4163343;OCCURENCE=1(thyroid) Pathogenic 9_130475480_C->T 9 130475480 130475480 C T snp 718.77 0/1 99 45 16 29 0.64 exonic rs118012211 C9orf117 AU nonsynonymous SNV NM_001012502 exon8 c.C1486T p.P496S 0.0151757 0.0704 0.000165 0.0070 0.0741 0.58 T 1 N -1.095 T 0.642 T 0.344 P Pathogenic 9_130476598_G->A 9 130476598 130476598 G A snp 2224.77 0/1 99 150 68 82 0.55 intronic rs148037738 PTRH1 AU NM_001002913 exon1 c.183+37G>A 0.00459265 0.0198 0.000154 0.0026 0.0253 Uncertain 9_130477160_G->A 9 130477160 130477160 G A snp 147.77 0/1 99 11 5 6 0.55 intronic rs550045 PTRH1 AU NM_001002913 exon4 c.875-93G>A 0.528754 0.2927 Uncertain 9_130477768_G->A 9 130477768 130477768 G A snp 2821.77 0/1 99 250 132 118 0.47 intronic rs504434 PTRH1 AU NM_001002913 exon5 c.1444-54G>A 0.529153 0.2927 0.5680 0.3226 Uncertain 9_130478525_C->T 9 130478525 130478525 C T snp 841.77 0/1 99 78 42 36 0.46 intronic rs147458348 TTC16 AU NM_144965 exon1 c.18+83C>T 0.0151757 0.0704 Uncertain 9_130479508_T->C 9 130479508 130479508 T C snp 1139.77 0/1 99 101 51 50 0.5 intronic rs118053370 TTC16 AU NM_144965 exon3 c.1188-104T>C 0.0151757 0.0704 0.0103 0.1568 Uncertain 9_130479881_T->C 9 130479881 130479881 T C snp 2052.77 0/1 99 169 84 85 0.5 intronic rs73600074 TTC16 AU NM_144965 exon4 c.1483-26T>C 0.0403355 0.0704 0.029448 0.0139 0.0727 Uncertain 9_130485618_G->A 9 130485618 130485618 G A snp 2668.77 0/1 99 238 122 116 0.49 splicing rs537881 TTC16 AU NM_144965 exon7 c.7188+6G>A 0.540735 0.2946 0.576000 0.5726 0.2910 Pathogenic 9_130486384_C->T 9 130486384 130486384 C T snp 568.77 0/1 99 53 32 21 0.4 intronic rs836333 TTC16 AU NM_144965 exon8 c.7974-14C>T 0.542532 0.2927 0.6064 0.3579 Uncertain 9_130486385_-->C 9 130486385 130486385 - C indel 448.73 0/1 99 54 33 21 0.39 intronic rs35761147 TTC16 AU NM_144965 exon8 c.7974-13insC 0.6041 0.3715 Uncertain 9_130486915_T->C 9 130486915 130486915 T C snp 1504.77 1/1 99 47 0 47 1.0 intronic rs2256139 TTC16 AU NM_144965 exon9 c.8610-119T>C 0.61881 0.3681 Uncertain 9_130488494_C->T 9 130488494 130488494 C T snp 2686.77 1/1 99 95 0 95 1.0 intronic rs538927 TTC16 AU NM_144965 exon10 c.10093-23C>T 0.616014 0.3661 0.632113 0.6042 0.3548 Uncertain 9_130489067_AAAAAAAAAAAAAAAAAAAAAAA->- 9 130489067 130489089 AAAAAAAAAAAAAAAAAAAAAAA - indel 1227.87 1/1 15 5 0 5 1.0 intronic rs55676226 TTC16 AU NM_144965 exon11 c.10824-181_10824-159delAAAAAAAAAAAAAAAAAAAAAAA 0.997005 0.997 Uncertain 9_130489096_A->C 9 130489096 130489096 A C snp 673.77 1/1 51 18 0 18 1.0 intronic rs111605434 TTC16 AU NM_144965 exon11 c.10824-152A>C 0.616014 0.3601 Uncertain 9_130489189_C->T 9 130489189 130489189 C T snp 4040.77 1/1 99 153 0 153 1.0 intronic rs578997 TTC16 AU NM_144965 exon11 c.10824-59C>T 0.61861 0.3661 Uncertain 9_130489558_A->G 9 130489558 130489558 A G snp 1530.77 1/1 99 53 0 53 1.0 exonic rs472144 TTC16 AU synonymous SNV NM_144965 exon12 c.A1578G p.K526K 0.61861 0.3661 0.635574 0.6114 0.3569 Uncertain 9_130489743_A->G 9 130489743 130489743 A G snp 990.77 0/1 99 78 38 40 0.51 exonic rs13298768 TTC16 AU nonsynonymous SNV NM_144965 exon12 c.A1763G p.E588G 0.339058 0.245 0.377316 0.4816 0.3296 0.03 T 1.000 P -0.923 T 0.483 P 0.057 P Pathogenic 9_130491726_T->C 9 130491726 130491726 T C snp 154.9 1/1 15 5 0 5 1.0 intronic rs555022 TTC16 AU NM_144965 exon13 c.13435-133T>C 0.619409 0.3671 Uncertain 9_130491998_A->G 9 130491998 130491998 A G snp 1193.77 1/1 87 36 0 36 1.0 intronic rs557630 TTC16 AU NM_144965 exon13 c.13523+51A>G 0.619808 0.3681 0.635195 0.6109 0.3540 Uncertain 9_130492039_G->A 9 130492039 130492039 G A snp 182.77 0/1 99 12 6 6 0.5 intronic rs557749 TTC16 AU NM_144965 exon13 c.13523+92G>A 0.558307 0.2966 Uncertain 9_130493513_A->G 9 130493513 130493513 A G snp 4338.77 1/1 99 152 0 152 1.0 exonic rs482095 TTC16 AU synonymous SNV NM_144965 exon14 c.A2451G p.K817K 0.620208 0.369 0.636881 0.6119 0.3550 ID=COSM3763651;OCCURENCE=1(large_intestine) Uncertain 9_130493724_C->T 9 130493724 130493724 C T snp 1299.77 0/1 99 138 81 57 0.41 UTR3 rs505268 TTC16 AU 0.552915 0.2986 0.591752 0.5874 0.2822 Uncertain 9_130494285_A->- 9 130494285 130494285 A - indel 900.73 0/1 99 65 40 25 0.38 UTR3 rs138472191 TOR2A AU 0.0133786 0.0605 0.0058 0.0618 Uncertain 9_130494667_G->A 9 130494667 130494667 G A snp 80.77 0/1 69 5 2 3 0.6 UTR3 rs534652 TOR2A AU 0.602436 0.3075 Uncertain 9_130494811_T->C 9 130494811 130494811 T C snp 1699.77 1/1 99 53 0 53 1.0 UTR3 rs515182 TOR2A AU 0.653954 0.3611 0.665096 0.6150 0.3459 Uncertain 9_130494957_T->C 9 130494957 130494957 T C snp 6256.77 1/1 99 237 0 237 1.0 exonic rs538066 TOR2A AU nonsynonymous SNV NM_001252018 exon3 c.A121G p.K41E 0.994209 0.999 0.988973 0.9887 1 1 T 1.0 P -0.938 T 0.0 T 0.0 T Pathogenic 9_130495016_G->A 9 130495016 130495016 G A snp 2424.77 0/1 99 210 102 108 0.51 UTR3 rs72616666 TOR2A AU 0.0507188 0.2153 0.000880 0.0212 0.2264 Uncertain 9_130495633_C->G 9 130495633 130495633 C G snp 5470.77 1/1 99 202 0 202 1.0 exonic rs564754 TOR2A AU nonsynonymous SNV NM_130459 exon3 c.G624C p.W208C 0.623802 0.371 0.642319 0.6164 0.3517 0.18 T 0.0 P -0.979 T 0.0 T 0.001 T Pathogenic 9_130495890_A->C 9 130495890 130495890 A C snp 467.77 1/1 36 12 0 12 1.0 intronic rs3739812 TOR2A AU NM_001134431 exon1 c.68+51A>C 0.630591 0.37 0.648411 0.6212 0.3680 Uncertain 9_130496415_G->A 9 130496415 130496415 G A snp 56.74 1/1 6 2 0 2 1.0 intronic rs482712 TOR2A AU NM_130459 exon2 c.1083-162G>A 0.624601 0.3681 Uncertain 9_130497293_G->T 9 130497293 130497293 G T snp 74.77 0/1 99 7 3 4 0.57 intronic rs7867296 TOR2A AU NM_001134431 exon2 c.1627-105G>T 0.18131 0.0952 Uncertain 9_130497591_C->T 9 130497591 130497591 C T snp 124.77 0/1 99 9 3 6 0.67 UTR5 rs7848592 TOR2A AU 0.0988419 0.0625 0.1027 . Uncertain 9_130502238_T->C 9 130502238 130502238 T C snp 163.77 0/1 99 13 5 8 0.62 intronic rs7852090 SH2D3C AU NM_001142533 exon2 c.1143+71T>C 0.124002 0.0605 Uncertain 9_130504070_G->A 9 130504070 130504070 G A snp 1463.77 0/1 99 110 48 62 0.56 exonic rs514024 SH2D3C AU synonymous SNV NM_001142533 exon7 c.C1611T p.A537A 0.531749 0.2847 0.575657 0.5681 0.2685 Uncertain 9_130509341_G->A 9 130509341 130509341 G A snp 956.77 0/1 99 73 33 40 0.55 intronic rs2233506 SH2D3C AU NM_001142533 exon7 c.8401-84G>A 0.0131789 0.0595 Uncertain 9_130511552_G->A 9 130511552 130511552 G A snp 1289.77 0/1 99 103 57 46 0.45 exonic rs2233503 SH2D3C AU synonymous SNV NM_001142533 exon3 c.C603T p.S201S 0.0129792 0.0595 0.000231 0.0057 0.0624 1 D -1.051 T Likely benign 9_130512071_A->G 9 130512071 130512071 A G snp 199.77 0/1 99 14 5 9 0.64 intronic rs2233500 SH2D3C AU NM_001142533 exon8 c.10920+127A>G 0.114217 0.0605 Uncertain 9_130513469_A->G 9 130513469 130513469 A G snp 178.77 0/1 99 27 18 9 0.33 exonic rs2233499 SH2D3C AU synonymous SNV NM_001142533 exon2 c.T192C p.H64H 0.0908546 0.0605 0.080578 0.0429 0.0625 1.000 P -0.674 T ID=COSM3763653,COSM3763655,COSM3763654,COSM3763652;OCCURENCE=1(large_intestine) Likely benign 9_130513777_A->T 9 130513777 130513777 A T snp 117.78 0/1 25 5 1 4 0.8 intronic rs7036428 SH2D3C AU NM_001142533 exon9 c.12555+198A>T 0.0908546 0.0605 Uncertain 9_130523904_T->C 9 130523904 130523904 T C snp 1322.77 0/1 99 112 58 54 0.48 exonic rs35019975 SH2D3C AU nonsynonymous SNV NM_005489 exon2 c.A70G p.S24G 0.0954473 0.0605 0.081732 0.0444 0.0622 0.47 T 0.995 P -0.929 T 0.0 T 0.0 T Pathogenic 9_130524014_C->A 9 130524014 130524014 C A snp 170.77 0/1 99 17 10 7 0.41 intronic rs3780653 SH2D3C AU NM_001142532 exon10 c.22905+85C>A 0.0129792 0.0595 Uncertain 9_130524817_C->T 9 130524817 130524817 C T snp 2775.77 1/1 99 102 0 102 1.0 intronic rs3962613 SH2D3C AU NM_001142531 exon11 c.23695+98C>T 0.985423 0.999 Uncertain 9_130524855_G->A 9 130524855 130524855 G A snp 481.77 0/1 99 40 20 20 0.5 intronic rs77044466 SH2D3C AU NM_001142531 exon11 c.23695+136G>A 0.014976 0.0615 Uncertain 9_130536717_G->A 9 130536717 130536717 G A snp 1412.77 0/1 99 134 75 59 0.44 exonic rs10760500 SH2D3C AU nonsynonymous SNV NM_170600 exon2 c.C67T p.L23F 0.536342 0.8988 0.462786 0.5627 0.9154 0 D 1.000 P -1.061 T 0.009 T 0.012 T Pathogenic 9_130548589_-->C 9 130548589 130548589 - C indel 1065.73 0/1 99 98 32 66 0.67 intronic rs11403971 CDK9 AU NM_001261 exon1 c.92+70insC 0.454673 0.6736 Uncertain 9_130549077_G->A 9 130549077 130549077 G A snp 780.77 0/1 99 92 50 42 0.46 intronic rs3217734 CDK9 AU NM_001261 exon2 c.634+16G>A 0.0231629 0.1101 0.000461 0.0086 0.1031 Uncertain 9_130549210_A->G 9 130549210 130549210 A G snp 243.77 0/1 99 23 10 13 0.57 intronic rs151087657 CDK9 AU NM_001261 exon2 c.634+149A>G 0.00998403 0.0466 Uncertain 9_130549790_C->T 9 130549790 130549790 C T snp 1550.77 0/1 99 131 66 65 0.5 intronic rs3217739 CDK9 AU NM_001261 exon3 c.1369-6C>T 0.0229633 0.1101 0.000461 0.0082 0.0986 Uncertain 9_130565267_A->G 9 130565267 130565267 A G snp 482.77 1/1 36 18 0 18 1.0 exonic rs10760502 FPGS AU nonsynonymous SNV NM_004957 exon1 c.A64G p.I22V 0.78115 0.9583 0.784281 0.6782 0.9839 1 T 0.0 P -0.971 T 0.0 T 0.0 T ID=COSM3750153;OCCURENCE=1(central_nervous_system),2(thyroid),1(large_intestine) Pathogenic 9_130570609_G->A 9 130570609 130570609 G A snp 1357.77 0/1 99 114 58 56 0.49 intronic rs118102203 FPGS AU NM_004957 exon9 c.5387+19G>A 0.0229633 0.1091 0.000461 0.0082 0.1000 Uncertain 9_130570789_G->A 9 130570789 130570789 G A snp 748.77 0/1 99 54 25 29 0.54 intronic rs747088361 FPGS AU NM_004957 exon10 c.5633-47G>A 5.873e-05 0 Uncertain 9_130572123_A->G 9 130572123 130572123 A G snp 46.77 0/1 33 3 1 2 0.67 intronic rs7027767 FPGS AU NM_004957 exon12 c.6910+10A>G 0.495208 0.6875 0.4051 0.5714 Uncertain 9_130578404_A->G 9 130578404 130578404 A G snp 365.77 0/1 99 24 13 11 0.46 intronic rs10760503 ENG AD NM_000118 exon1 c.137+72A>G 0.486022 0.6905 Uncertain 9_130586621_C->G 9 130586621 130586621 C G snp 2863.77 0/1 99 248 133 115 0.46 exonic rs1800956 ENG AD nonsynonymous SNV NM_000118 exon8 c.G1096C p.D366H 0.0235623 0.1111 0.000769 0.0085 0.1018 0.02 T 1 N -0.915 T 0.999 D 0.971 D CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000150650.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 ID=CM070080;DIS=Intracranial aneurysm, increased risk, association with;TAG=DP;PUB=18440621 DP Pathogenic 9_130587052_-->GGGAGG 9 130587052 130587052 - GGGAGG indel 446.73 0/1 99 9 3 6 0.67 intronic rs148063362 ENG AD NM_000118 exon8 c.8883-26insGGGAGG 0.209958 0.2249 0.3041 Uncertain 9_130630233_G->T 9 130630233 130630233 G T snp 1491.77 1/1 99 55 0 55 1.0 UTR3 rs4226 AK1 AR 0.681709 0.9018 0.681778 Uncertain 9_130630639_A->G 9 130630639 130630639 A G snp 1928.77 1/1 99 70 0 70 1.0 exonic rs913986 AK1 AR synonymous SNV NM_000476 exon6 c.T477C p.P159P 0.998203 1 0.998155 0.9995 1 1.000 P -1.032 T Likely benign 9_130635252_C->T 9 130635252 130635252 C T snp 1488.77 0/1 99 135 72 63 0.47 intronic rs2070690 AK1 AR NM_000476 exon5 c.5018-52C>T 0.0615016 0.2579 0.010512 Uncertain 9_130635540_A->G 9 130635540 130635540 A G snp 2526.77 1/1 99 83 0 83 1.0 intronic rs2767398 AK1 AR NM_000476 exon5 c.5054+200A>G 0.971645 1 Uncertain 9_130648680_G->A 9 130648680 130648680 G A snp 5256.77 1/1 99 196 0 196 1.0 UTR3 rs913983 ST6GALNAC6 AU 0.997604 1 Uncertain 9_130649111_G->A 9 130649111 130649111 G A snp 1545.77 1/1 99 45 0 45 1.0 intronic rs4837202 ST6GALNAC6 AU NM_013443 exon1 c.190+44G>A 0.982827 0.9385 0.993695 0.9924 0.9343 Uncertain 9_130652800_G->A 9 130652800 130652800 G A snp 267.8 1/1 21 7 0 7 1.0 intronic rs2281897 ST6GALNAC6 AU NM_013443 exon3 c.4038-115G>A 0.830671 0.9266 Uncertain 9_130657021_C->- 9 130657021 130657021 C - indel 2267.73 1/1 99 65 0 65 1.0 intronic rs398012319 ST6GALNAC6 AU NM_013443 exon4 c.8093+51delC 0.999002 1 0.997524 0.9994 0.9999 Uncertain 9_130670652_A->G 9 130670652 130670652 A G snp 352.78 1/1 27 11 0 11 1.0 UTR3 rs1043012 ST6GALNAC4 AU 0.934904 0.994 0.935208 0.9806 0.9945 Uncertain 9_130670903_C->A 9 130670903 130670903 C A snp 2311.77 1/1 99 87 0 87 1.0 intronic rs10760511 ST6GALNAC4 AU NM_175040 exon1 c.190+43C>A 0.934704 0.994 0.937144 0.9811 0.9942 Uncertain 9_130672106_A->G 9 130672106 130672106 A G snp 1719.77 1/1 99 54 0 54 1.0 intronic rs7026378 ST6GALNAC4 AU NM_175040 exon2 c.1559-123A>G 0.892971 0.872 Uncertain 9_130672221_C->T 9 130672221 130672221 C T snp 7017.77 1/1 99 250 0 250 1.0 intronic rs10739700 ST6GALNAC4 AU NM_175040 exon2 c.1559-8C>T 0.800519 0.7867 0.849946 0.8896 0.8088 Uncertain 9_130829039_A->G 9 130829039 130829039 A G snp 3587.77 1/1 99 124 0 124 1.0 exonic rs1539350 NAIF1 AU synonymous SNV NM_197956 exon1 c.T342C p.G114G 0.993211 1 0.991353 0.9974 1 ID=COSM4163355;OCCURENCE=1(thyroid) Uncertain 9_130854127_A->G 9 130854127 130854127 A G snp 454.77 1/1 36 13 0 13 1.0 UTR5 rs10739712 SLC25A25 AU 0.911542 0.9762 0.916017 0.9733 0.9758 Uncertain 9_130860866_T->C 9 130860866 130860866 T C snp 4548.77 1/1 99 157 0 157 1.0 exonic rs947624 SLC25A25 AU synonymous SNV NM_052901 exon1 c.T21C p.Y7Y 0.954273 1 0.945487 0.9856 1 ID=COSM4163357;OCCURENCE=1(thyroid) Uncertain 9_130861039_A->G 9 130861039 130861039 A G snp 3788.77 1/1 99 120 0 120 1.0 intronic rs947623 SLC25A25 AU NM_052901 exon1 c.159+35A>G 0.908546 1 0.891281 0.9665 0.9987 Uncertain 9_130864529_G->A 9 130864529 130864529 G A snp 737.77 0/1 99 60 29 31 0.52 intronic rs3814523 SLC25A25 AU NM_052901 exon4 c.3803-119G>A 0.0071885 0.0258 Uncertain 9_130864676_T->C 9 130864676 130864676 T C snp 4385.77 1/1 99 162 0 162 1.0 exonic rs7859709 SLC25A25 AU synonymous SNV NM_001006641 exon4 c.T504C p.I168I 0.954273 1 0.945487 0.9856 1 Uncertain 9_130868312_G->C 9 130868312 130868312 G C snp 1318.77 1/1 96 38 0 38 1.0 intronic rs7864867 SLC25A25 AU NM_052901 exon7 c.7583-116G>C 0.992812 1 Uncertain 9_130868831_T->C 9 130868831 130868831 T C snp 538.77 1/1 42 15 0 15 1.0 intronic rs1418420 SLC25A25 AU NM_052901 exon8 c.7954+32T>C 0.954073 1 0.945478 0.9850 1 Uncertain 9_130869499_A->T 9 130869499 130869499 A T snp 5128.77 1/1 99 189 1 188 0.99 intronic rs4837239 SLC25A25 AU NM_052901 exon10 c.8693-39A>T 0.998403 1 0.998001 0.9995 1 0.000 P -1.028 T Uncertain 9_130883511_C->T 9 130883511 130883511 C T snp 3738.77 1/1 99 142 0 142 1.0 exonic rs2040004 PTGES2 AU synonymous SNV NM_025072 exon7 c.G1047A p.A349A 0.935104 1 0.930374 0.9813 1 Uncertain 9_130885960_-->CCAGCC 9 130885960 130885960 - CCAGCC indel 776.73 0/1 99 35 23 12 0.34 intronic rs550378770 PTGES2 AU NM_025072 exon4 c.2557-20insCCAGCC 0.00998403 0.0298 0.002556 0.0072 0.0358 Uncertain 9_130886906_A->G 9 130886906 130886906 A G snp 1039.77 1/1 75 40 0 40 1.0 intronic rs4837241 PTGES2 AU NM_025072 exon5 c.3406+77A>G 0.97524 1 Uncertain 9_130887507_G->A 9 130887507 130887507 G A snp 1129.77 0/1 99 95 43 52 0.55 intronic rs148357420 PTGES2 AU NM_025072 exon6 c.4099-15G>A 0.00758786 0.0298 0.000078 0.0046 0.0651 Uncertain 9_130889571_A->G 9 130889571 130889571 A G snp 779.77 1/1 57 23 0 23 1.0 intronic rs4837242 PTGES2 AU NM_025072 exon7 c.6294-146A>G 0.974641 1 Uncertain 9_130889600_C->T 9 130889600 130889600 C T snp 566.77 0/1 99 48 26 22 0.46 intronic rs4837243 PTGES2 AU NM_025072 exon7 c.6294-117C>T 0.933906 0.9395 Uncertain 9_130889705_G->A 9 130889705 130889705 G A snp 3540.77 1/1 99 136 1 135 0.99 intronic rs4837244 PTGES2 AU NM_025072 exon7 c.6294-12G>A 0.96246 1 0.970969 0.9908 0.9999 Uncertain 9_130890011_C->A 9 130890011 130890011 C A snp 56.74 1/1 6 2 0 2 1.0 UTR5 rs139651851 PTGES2 AU 0.0103834 0.0298 0.0909 0.5 Uncertain 9_130890449_-->GGTGCGCGGC 9 130890449 130890449 - GGTGCGCGGC indel 15872.7 1/1 99 152 0 152 1.0 UTR5 rs11282144 PTGES2 AU 0.926717 0.9623 Uncertain 9_130890452_-->GCGCGGCGGC 9 130890452 130890452 - GCGCGGCGGC indel 18004.7 1/1 99 185 12 173 0.94 UTR5 rs11282144 PTGES2 AU 0.0161741 0.0298 Uncertain 9_130890461_T->C 9 130890461 130890461 T C snp 2988.77 0/1 99 228 105 123 0.54 UTR5 rs41276226 PTGES2 AU 0.0161741 0.0298 Uncertain 9_130912857_C->T 9 130912857 130912857 C T snp 1314.77 0/1 99 123 67 56 0.46 intronic rs3780836 LCN2 AU NM_005564 exon2 c.849+204C>T 0.0197684 0.0496 0.0257 0.0763 Uncertain 9_130913638_A->T 9 130913638 130913638 A T snp 331.77 0/1 99 26 13 13 0.5 intronic rs73672429 LCN2 AU NM_005564 exon3 c.2112-278A>T 0.159345 0.4187 0.063951 Uncertain 9_130914434_A->G 9 130914434 130914434 A G snp 2969.77 1/1 99 104 0 104 1.0 intronic rs2232629 LCN2 AU NM_005564 exon5 c.2657-27A>G 0.960264 1 0.949024 0.9707 0.9999 Uncertain 9_130922852_A->C 9 130922852 130922852 A C snp 1373.77 0/1 99 113 51 62 0.55 intronic rs138271849 C9orf16 AU NM_024112 exon1 c.79+87A>C 0.0101837 0.0327 Uncertain 9_130922952_G->C 9 130922952 130922952 G C snp 972.77 1/1 72 32 0 32 1.0 intronic rs1539351 C9orf16 AU NM_024112 exon1 c.79+187G>C 0.920327 1 Uncertain 9_130940081_T->C 9 130940081 130940081 T C snp 1572.77 0/1 99 124 58 66 0.53 intronic rs45603337 CIZ1 AU NM_001257975 exon9 c.11567+39T>C 0.0125799 0.0437 0.000077 0.0070 0.0617 Uncertain 9_130940121_G->A 9 130940121 130940121 G A snp 1974.77 1/1 99 73 0 73 1.0 intronic rs4075428 CIZ1 AU NM_001257975 exon9 c.11567+79G>A 0.827875 0.9871 Uncertain 9_130940822_C->T 9 130940822 130940822 C T snp 1138.77 0/1 99 76 37 39 0.51 intronic rs3892074 CIZ1 AU NM_001257975 exon10 c.12294+53C>T 0.6873 0.9435 Uncertain 9_130941706_C->A 9 130941706 130941706 C A snp 510.77 0/1 99 63 41 22 0.35 intronic rs45442198 CIZ1 AU NM_001257975 exon11 c.13219+12C>A 0.0135783 0.0446 0.001768 0.0056 0.0359 Uncertain 9_130942972_T->C 9 130942972 130942972 T C snp 392.77 0/1 99 39 23 16 0.41 intronic rs45585631 CIZ1 AU NM_001257975 exon13 c.14524-27T>C 0.692692 0.9444 0.589958 0.6878 0.9560 Uncertain 9_130952737_G->C 9 130952737 130952737 G C snp 678.77 0/1 99 40 16 24 0.6 intronic rs200563464 CIZ1 AU NM_001257975 exon16 c.24248+14G>C 0.000199681 0.001 0.0001 0.0018 Uncertain 9_130980572_A->G 9 130980572 130980572 A G snp 2791.77 0/1 99 250 140 110 0.44 exonic rs551214260 DNM1 AD unknown 0.000199681 0.001 4.943e-05 0.0006 0.05 T 1 D 1.023 D 0.996 D 0.963 D Uncertain 9_130981064_C->T 9 130981064 130981064 C T snp 769.77 1/1 57 24 0 24 1.0 intronic rs3003602 DNM1 AD NM_001288739 exon3 c.15261+54C>T 0.614816 0.6895 Uncertain 9_130982416_C->T 9 130982416 130982416 C T snp 2740.77 0/1 99 250 133 117 0.47 intronic rs3003606 DNM1 AD NM_001288739 exon6 c.16710-43C>T 0.463259 0.6121 0.412656 0.5363 0.6007 Uncertain 9_130984430_C->A 9 130984430 130984430 C A snp 2058.77 1/1 99 67 0 67 1.0 intronic rs3003608 DNM1 AD NM_001288739 exon7 c.18726-45C>A 0.58127 0.6865 0.531524 0.5764 0.6629 Uncertain 9_130984755_C->T 9 130984755 130984755 C T snp 2093.77 0/1 99 237 144 93 0.39 exonic rs3003609 DNM1 AD unknown 0.454673 0.6121 0.404275 0.5325 0.6009 ID=COSM4163366,COSM4163365,COSM4163367;OCCURENCE=1(thyroid) ID=CM091891;DIS=Nicotine dependence, association with;TAG=DFP;PUB=18987626 DFP Uncertain 9_130988616_C->T 9 130988616 130988616 C T snp 442.77 0/1 99 28 12 16 0.57 intronic rs3003612 DNM1 AD NM_001288739 exon10 c.22703+164C>T 0.503794 0.6131 Uncertain 9_130994179_C->T 9 130994179 130994179 C T snp 238.77 0/1 99 13 4 9 0.69 intronic rs3003578 DNM1 AD NM_001288739 exon11 c.30550-2120C>T 0.455871 0.62 Uncertain 9_131001692_G->C 9 131001692 131001692 G C snp 2588.77 0/1 99 250 153 97 0.39 intronic rs10987942 DNM1 AD NM_001288739 exon12 c.35974-31G>C 0.461661 0.4732 0.385591 0.3058 0.4779 Uncertain 9_131008479_A->G 9 131008479 131008479 A G snp 170.9 1/1 15 5 0 5 1.0 intronic rs3003617 DNM1 AD NM_001288739 exon15 c.42923-193A>G 0.99381 1 Uncertain 9_131015279_G->A 9 131015279 131015279 G A snp 304.77 0/1 99 37 23 14 0.38 intronic rs2267958 DNM1 AD NM_001288738 exon21 c.49630-100G>A 0.377596 0.4851 Uncertain 9_131019933_G->T 9 131019933 131019933 G T snp 753.77 0/1 99 90 57 33 0.37 exonic rs116991188 GOLGA2 AU synonymous SNV NM_004486 exon24 c.C2584A p.R862R 0.0257588 0.0982 0.000154 0.0094 0.0841 Uncertain 9_131020217_G->A 9 131020217 131020217 G A snp 1445.77 0/1 99 165 80 85 0.52 intronic rs78338461 GOLGA2 AU NM_004486 exon5 c.913-41G>A 0.0245607 0.0923 0.000077 0.0093 0.0818 Uncertain 9_131020796_CCT->- 9 131020796 131020798 CCT - indel 587.73 0/1 99 51 22 29 0.57 exonic rs112603354 GOLGA2 AU nonframeshift deletion NM_004486 exon21 c.2144_2146del p.715_716del 0.26278 0.2887 0.1551 0.2522 ID=COSM1489693;OCCURENCE=1(breast),2(urinary_tract) Uncertain 9_131030695_G->A 9 131030695 131030695 G A snp 774.77 0/1 99 60 30 30 0.5 splicing rs3829904 GOLGA2 AU NM_004486 exon24 c.11353-3G>A 0.0259585 0.1042 0.000308 0.0095 0.0946 Pathogenic 9_131037554_C->A 9 131037554 131037554 C A snp 1594.77 0/1 99 128 68 60 0.47 intronic rs963661 GOLGA2 AU NM_004486 exon26 c.18826-617C>A 0.0259585 0.1052 Uncertain 9_131040842_C->A 9 131040842 131040842 C A snp 48.77 0/1 77 15 10 5 0.33 intronic SWI5 AU NM_001040011 exon2 c.610+1808C>A Uncertain 9_131040842_-->A 9 131040842 131040842 - A indel 77.73 0/1 99 15 7 8 0.53 intronic rs545111384 SWI5 AU NM_001040011 exon2 c.610+1808insA Uncertain 9_131040874_T->C 9 131040874 131040874 T C snp 1065.77 0/1 99 64 29 35 0.55 intronic rs56203622 SWI5 AU NM_001040011 exon2 c.610+1840T>C 0.302117 0.3125 0.2215 0.3381 Uncertain 9_131073676_G->C 9 131073676 131073676 G C snp 40.77 0/1 33 3 1 2 0.67 intronic rs2240955 TRUB2 AU NM_015679 exon3 c.1979-131G>C 0.0247604 0.0992 Uncertain 9_131074054_TCAGAAAGA->- 9 131074054 131074062 TCAGAAAGA - indel 1528.73 0/1 99 53 27 26 0.49 intronic TRUB2 AU NM_015679 exon3 c.2052+174_2052+182delTCAGAAAGA Uncertain 9_131074064_A->T 9 131074064 131074064 A T snp 396.77 0/1 99 35 21 14 0.4 intronic TRUB2 AU NM_015679 exon3 c.2052+184A>T Uncertain 9_131074067_GGA->- 9 131074067 131074069 GGA - indel 813.73 0/1 99 36 21 15 0.42 intronic rs369645449 TRUB2 AU NM_015679 exon3 c.2052+187_2052+189delGGA 0.334665 0.2956 Uncertain 9_131076261_T->G 9 131076261 131076261 T G snp 1262.77 0/1 99 129 72 57 0.44 intronic rs150239597 TRUB2 AU NM_015679 exon4 c.4340+93T>G 0.000798722 0.004 Uncertain 9_131076289_C->T 9 131076289 131076289 C T snp 1056.77 0/1 99 102 58 44 0.43 intronic rs138000560 TRUB2 AU NM_015679 exon4 c.4340+121C>T 0.00778754 0.0387 Uncertain 9_131079514_AAAC->- 9 131079514 131079517 AAAC - indel 2539.73 0/1 99 96 48 48 0.5 intronic rs148938957 TRUB2 AU NM_015679 exon6 c.7677+9_7677+12delAAAC 0.0247604 0.0992 0.0125 0.1131 Uncertain 9_131085373_G->C 9 131085373 131085373 G C snp 2382.77 1/1 99 88 0 88 1.0 exonic rs3003601 COQ4 AR nonsynonymous SNV NM_016035 exon2 c.G149C p.G50A 0.998003 1 0.997049 0.9988 1 0.77 T 0.0 P -1.009 T 0.001 T 0.004 T Pathogenic 9_131088214_G->A 9 131088214 131088214 G A snp 2981.77 0/1 99 232 112 120 0.52 intronic rs79172715 COQ4 AR NM_016035 exon4 c.3023+54G>A 0.0247604 0.0992 0.0109 0.1078 Uncertain 9_131095112_A->C 9 131095112 131095112 A C snp 822.77 0/1 99 82 43 39 0.48 intronic rs7850697 COQ4 AR NM_016035 exon6 c.9991-16A>C 0.377796 0.3046 0.354221 0.2450 0.2882 Uncertain 9_131185295_G->C 9 131185295 131185295 G C snp 354.77 0/1 99 39 23 16 0.41 ncRNA_intronic rs2072401 MIR1268A AU 0.23762 0.3611 0.184684 0.2054 0.3706 Uncertain 9_131185357_-->TGTCCACTG 9 131185357 131185357 - TGTCCACTG indel 3218.75 0/1 99 70 36 34 0.49 ncRNA_intronic rs397954054 MIR1268A AU 0.189097 0.3591 Uncertain 9_131186328_C->T 9 131186328 131186328 C T snp 134.77 0/1 99 17 12 5 0.29 ncRNA_intronic rs78986616 MIR1268A AU 0.273762 0.371 Uncertain 9_131186401_C->T 9 131186401 131186401 C T snp 1276.77 0/1 99 92 39 53 0.58 ncRNA_intronic rs7038316 MIR1268A AU 0.324281 0.371 0.286329 0.2436 0.3783 Uncertain 9_131186581_C->T 9 131186581 131186581 C T snp 1474.77 0/1 99 126 65 61 0.48 ncRNA_intronic rs2286813 MIR1268A AU 0.383586 0.371 0.338844 0.2580 0.3766 Uncertain 9_131186956_A->G 9 131186956 131186956 A G snp 536.77 0/1 99 42 24 18 0.43 ncRNA_intronic rs28567931 MIR1268A AU 0.364617 0.374 Uncertain 9_131191338_G->T 9 131191338 131191338 G T snp 422.77 0/1 99 30 11 19 0.63 ncRNA_intronic rs2072399 MIR1268A AU 0.263978 0.375 0.202169 0.2565 0.4275 Uncertain 9_131191403_A->G 9 131191403 131191403 A G snp 83.77 0/1 63 5 2 3 0.6 ncRNA_intronic rs2270202 MIR1268A AU 0.385184 0.375 Uncertain 9_131193605_T->C 9 131193605 131193605 T C snp 1621.77 0/1 99 141 72 69 0.49 ncRNA_intronic rs1009851 MIR1268A AU 0.326478 0.3919 0.273412 0.2254 0.4162 Uncertain 9_131193665_A->C 9 131193665 131193665 A C snp 951.77 0/1 99 86 43 43 0.5 ncRNA_intronic rs1009850 MIR1268A AU 0.499201 0.3313 Uncertain 9_131196334_G->A 9 131196334 131196334 G A snp 725.77 0/1 99 82 46 36 0.44 ncRNA_intronic rs2072398 MIR1268A AU 0.380591 0.4196 0.320237 0.2628 0.4324 Uncertain 9_131196336_T->A 9 131196336 131196336 T A snp 774.77 0/1 99 82 45 37 0.45 ncRNA_intronic rs2072397 MIR1268A AU 0.380591 0.4196 0.322159 0.2630 0.4322 Uncertain 9_131196695_C->T 9 131196695 131196695 C T snp 484.77 0/1 99 68 43 25 0.37 exonic rs7258 CERCAM AU synonymous SNV NM_001286760 exon11 c.C1104T p.L368L 0.294728 0.4087 0.240735 0.2315 0.4152 ID=COSM4007057,COSM4007058;OCCURENCE=1(urinary_tract) Uncertain 9_131196704_G->A 9 131196704 131196704 G A snp 474.77 0/1 99 70 45 25 0.36 exonic rs7259 CERCAM AU synonymous SNV NM_001286760 exon11 c.G1113A p.K371K 0.376198 0.4048 0.324773 0.2554 0.4107 ID=COSM3763663,COSM3763662;OCCURENCE=1(large_intestine) Uncertain 9_131197896_G->A 9 131197896 131197896 G A snp 1580.77 0/1 99 126 56 70 0.56 ncRNA_intronic rs7040989 MIR1268A AU 0.340455 0.4107 0.283913 0.2647 0.4251 Uncertain 9_131218213_G->A 9 131218213 131218213 G A snp 544.77 0/1 99 24 8 16 0.67 ncRNA_intronic rs10819384 MIR1268A AU 0.452276 0.2232 Uncertain 9_131222541_A->G 9 131222541 131222541 A G snp 2163.77 1/1 99 67 0 67 1.0 ncRNA_intronic rs6478832 MIR1268A AU 0.989617 1 Uncertain 9_131235321_A->G 9 131235321 131235321 A G snp 2352.77 1/1 99 78 0 78 1.0 splicing rs4512487 ODF2 AU NM_153433 exon7 c.15636+1A>G 0.989617 1 0.985853 0.9961 0.9999 1 T 0.000 P -0.984 T ID=COSM4163373,COSM4163374,COSM4163372;OCCURENCE=1(thyroid) Pathogenic 9_131250084_AC->- 9 131250084 131250085 AC - indel 1377.73 1/1 99 40 0 40 1.0 ncRNA_intronic rs5900801 MIR1268A AU Uncertain 9_131250087_C->A 9 131250087 131250087 C A snp 1162.77 1/1 54 42 2 40 0.95 ncRNA_intronic rs5900799 MIR1268A AU Uncertain 9_131287352_C->T 9 131287352 131287352 C T snp 1225.77 1/1 90 37 0 37 1.0 ncRNA_intronic rs10988014 MIR1268A AU 0.556909 0.5218 Uncertain 9_131300143_G->A 9 131300143 131300143 G A snp 396.77 1/1 30 13 0 13 1.0 ncRNA_intronic rs7048583 MIR1268A AU 0.557907 0.5218 Uncertain 9_131317902_T->C 9 131317902 131317902 T C snp 41.74 1/1 6 2 0 2 1.0 ncRNA_intronic rs6478836 MIR1268A AU Uncertain 9_131331320_C->T 9 131331320 131331320 C T snp 299.77 0/1 49 12 2 10 0.83 ncRNA_intronic rs2152833 MIR1268A AU 0.619209 0.5139 Uncertain 9_131337302_C->T 9 131337302 131337302 C T snp 176.9 1/1 15 6 0 6 1.0 ncRNA_intronic rs2297767 MIR1268A AU 0.952476 0.9474 Uncertain 9_131337389_C->T 9 131337389 131337389 C T snp 662.77 0/1 99 36 13 23 0.64 ncRNA_intronic rs2297768 MIR1268A AU 0.620407 0.5149 Uncertain 9_131337661_A->C 9 131337661 131337661 A C snp 1098.77 1/1 81 34 0 34 1.0 ncRNA_intronic rs2297769 MIR1268A AU 0.951478 0.9474 0.968707 0.9856 0.9681 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000147648.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 9_131340306_A->G 9 131340306 131340306 A G snp 1387.77 1/1 99 42 0 42 1.0 ncRNA_intronic rs4837280 MIR1268A AU 0.969848 1 Uncertain 9_131340639_T->C 9 131340639 131340639 T C snp 1412.77 1/1 99 43 0 43 1.0 ncRNA_intronic rs1890103 MIR1268A AU 0.970048 1 Uncertain 9_131344578_G->A 9 131344578 131344578 G A snp 182.9 1/1 15 6 0 6 1.0 ncRNA_intronic rs4384085 MIR1268A AU 0.998203 1 Uncertain 9_131344608_A->- 9 131344608 131344608 A - indel 258.75 1/1 24 8 0 8 1.0 ncRNA_intronic rs5900808 MIR1268A AU 0.951478 0.9474 Uncertain 9_131346218_A->C 9 131346218 131346218 A C snp 2793.77 1/1 99 102 0 102 1.0 exonic rs10760566 SPTAN1 AD synonymous SNV NM_001130438 exon16 c.A2163C p.A721A 0.969848 1 0.970091 0.9914 1 CLINSIG=non-pathogenic;CLNDBN=not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000128236.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Uncertain 9_131346479_A->G 9 131346479 131346479 A G snp 5173.77 1/1 99 185 0 185 1.0 ncRNA_intronic rs4240431 MIR1268A AU 0.973243 1 Uncertain 9_131347165_G->A 9 131347165 131347165 G A snp 965.77 1/1 72 28 0 28 1.0 ncRNA_intronic rs4836615 MIR1268A AU 0.96905 1 0.969168 0.9910 1 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000147616.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 9_131347169_C->T 9 131347169 131347169 C T snp 318.77 0/1 99 27 16 11 0.41 ncRNA_intronic rs4837284 MIR1268A AU 0.619209 0.5139 0.733277 0.7928 0.5043 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000147617.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 9_131349773_G->A 9 131349773 131349773 G A snp 141.03 1/1 12 4 0 4 1.0 ncRNA_intronic rs7027388 MIR1268A AU 0.949281 0.9474 Uncertain 9_131350112_A->G 9 131350112 131350112 A G snp 257.8 1/1 21 9 0 9 1.0 ncRNA_intronic rs4837286 MIR1268A AU 0.886382 0.9474 Uncertain 9_131353544_A->G 9 131353544 131353544 A G snp 176.9 1/1 15 5 0 5 1.0 ncRNA_intronic rs10819419 MIR1268A AU 0.950679 0.9474 Uncertain 9_131353567_C->G 9 131353567 131353567 C G snp 466.77 1/1 36 12 0 12 1.0 ncRNA_intronic rs10819420 MIR1268A AU Uncertain 9_131353989_G->A 9 131353989 131353989 G A snp 298.78 1/1 24 8 0 8 1.0 ncRNA_intronic rs3814530 MIR1268A AU 0.924321 0.9474 Uncertain 9_131360750_C->T 9 131360750 131360750 C T snp 758.77 0/1 99 86 52 34 0.4 exonic rs2227864 SPTAN1 AD synonymous SNV NM_001130438 exon25 c.C3486T p.L1162L 0.642772 0.5109 0.760418 0.8064 0.5170 CLINSIG=non-pathogenic,non-pathogenic;CLNDBN=not_specified,not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter,criteria_provided\x2c_single_submitter;CLNACC=RCV000147625.1,RCV000147626.1;CLNDSDB=MedGen,MedGen;CLNDSDBID=CN169374,CN169374 Uncertain 9_131374165_C->G 9 131374165 131374165 C G snp 3598.77 1/1 99 114 0 114 1.0 ncRNA_intronic rs7024498 MIR1268A AU 0.968251 1 0.968861 0.9911 1 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000147632.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 9_131375701_A->G 9 131375701 131375701 A G snp 3343.77 1/1 99 123 0 123 1.0 exonic rs1415568 SPTAN1 AD synonymous SNV NM_001130438 exon40 c.A5085G p.L1695L 0.984824 1 0.985391 0.9959 1 CLINSIG=non-pathogenic;CLNDBN=not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000128256.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Uncertain 9_131379967_C->T 9 131379967 131379967 C T snp 707.77 0/1 99 74 40 34 0.46 exonic rs2227862 SPTAN1 AD synonymous SNV NM_001130438 exon42 c.C5406T p.T1802T 0.617013 0.5139 0.732816 0.7913 0.5010 CLINSIG=non-pathogenic,non-pathogenic|non-pathogenic;CLNDBN=not_specified,not_provided|not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter,criteria_provided\x2c_single_submitter|criteria_provided\x2c_single_submitter;CLNACC=RCV000147635.1,RCV000128258.1|RCV000147636.1;CLNDSDB=MedGen,MedGen|MedGen;CLNDSDBID=CN169374,CN221809|CN169374 ID=COSM4163385,COSM4163386;OCCURENCE=1(thyroid) Uncertain 9_131379998_C->A 9 131379998 131379998 C A snp 664.77 0/1 99 64 34 30 0.47 exonic rs3750333 SPTAN1 AD synonymous SNV NM_001130438 exon42 c.C5437A p.R1813R 0.0315495 0.0804 0.011764 0.0235 0.0835 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000147637.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 9_131380149_C->G 9 131380149 131380149 C G snp 619.77 0/1 99 44 20 24 0.55 ncRNA_intronic rs3750332 MIR1268A AU 0.672724 0.6518 Uncertain 9_131380225_A->C 9 131380225 131380225 A C snp 796.77 0/1 99 89 54 35 0.39 ncRNA_intronic rs7864187 MIR1268A AU 0.309305 0.4315 0.210672 0.1866 0.4673 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000147639.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 9_131380994_T->C 9 131380994 131380994 T C snp 221.84 1/1 18 7 0 7 1.0 ncRNA_intronic rs4837290 MIR1268A AU 0.968251 1 Uncertain 9_131388643_C->T 9 131388643 131388643 C T snp 2234.77 1/1 99 64 0 64 1.0 ncRNA_intronic rs3737308 MIR1268A AU 0.611422 0.5218 0.723589 0.7915 0.5201 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000147645.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 9_131389060_-->AA 9 131389060 131389060 - AA indel 885.73 1/1 51 17 0 17 1.0 ncRNA_intronic rs10694437 MIR1268A AU 0.992812 1 Uncertain 9_131389544_C->T 9 131389544 131389544 C T snp 472.77 0/1 99 33 14 19 0.58 ncRNA_intronic rs1572914 MIR1268A AU 0.270567 0.4296 Uncertain 9_131390472_C->A 9 131390472 131390472 C A snp 941.77 0/1 99 77 37 40 0.52 ncRNA_intronic rs7857728 MIR1268A AU 0.288938 0.4276 0.2238 0.5039 Uncertain 9_131392553_G->A 9 131392553 131392553 G A snp 2556.77 1/1 99 102 0 102 1.0 ncRNA_intronic rs7866175 MIR1268A AU 0.919329 0.9464 0.930647 0.9749 0.9681 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000147652.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 9_131394297_A->G 9 131394297 131394297 A G snp 459.77 1/1 36 12 0 12 1.0 ncRNA_intronic rs10760569 MIR1268A AU 0.877796 0.9474 Uncertain 9_131397479_G->A 9 131397479 131397479 G A snp 1400.77 0/1 99 115 49 66 0.57 exonic rs4837291 WDR34 AR synonymous SNV NM_052844 exon6 c.C873T p.T291T 0.621406 0.4921 0.732585 0.7883 0.4871 ID=COSM4007061;OCCURENCE=1(urinary_tract) Uncertain 9_131398636_C->T 9 131398636 131398636 C T snp 1162.77 0/1 99 91 41 50 0.55 exonic rs10760570 WDR34 AR synonymous SNV NM_052844 exon4 c.G627A p.Q209Q 0.601438 0.5119 0.706878 0.8046 0.5616 ID=COSM3763664;OCCURENCE=1(thyroid),2(large_intestine) Uncertain 9_131403096_A->G 9 131403096 131403096 A G snp 2897.77 0/1 99 234 120 114 0.49 exonic rs2298045 WDR34 AR synonymous SNV NM_052844 exon2 c.T309C p.Y103Y 0.740016 0.6062 0.835461 0.8268 0.5910 Uncertain 9_131418828_A->C 9 131418828 131418828 A C snp 1414.77 1/1 99 53 0 53 1.0 exonic rs4837292 WDR34 AR nonsynonymous SNV NM_052844 exon1 c.T178G p.W60G 0.998413 0.9998 1 0.77 T 0.000 P -0.982 T 0.0 T 0.0 T Pathogenic 9_131452121_-->G 9 131452121 131452121 - G indel 325.75 1/1 24 8 0 8 1.0 intronic rs555034621 SET AU NM_003011 exon1 c.73+187insG 0.999601 1 Uncertain 9_131452127_CC->- 9 131452127 131452128 CC - indel 502.73 1/1 33 11 0 11 1.0 intronic rs553157569 SET AU NM_003011 exon1 c.73+193_73+194delCC 0.999601 1 Uncertain 9_131452137_-->G 9 131452137 131452137 - G indel 724.73 1/1 56 19 0 19 1.0 intronic rs746960059 SET AU NM_003011 exon1 c.73+203insG Uncertain 9_131453331_G->A 9 131453331 131453331 G A snp 1147.77 1/1 84 41 0 41 1.0 intronic rs4837293 SET AU NM_003011 exon2 c.1587-117G>A 0.988219 1 0.984473 0.9954 1 Uncertain 9_131454120_C->T 9 131454120 131454120 C T snp 175.9 1/1 15 5 0 5 1.0 intronic rs3750330 SET AU NM_003011 exon3 c.2275-16C>T 0.846645 0.9087 0.861781 0.9470 0.9058 Uncertain 9_131455760_C->T 9 131455760 131455760 C T snp 2310.77 1/1 99 74 0 74 1.0 intronic rs10739728 SET AU NM_003011 exon6 c.4055-156C>T 0.96865 0.9484 Uncertain 9_131455903_C->T 9 131455903 131455903 C T snp 3985.77 1/1 99 137 0 137 1.0 intronic rs4836618 SET AU NM_003011 exon6 c.4055-13C>T 0.845248 0.9097 0.859966 0.9465 0.9063 Uncertain 9_131456195_A->T 9 131456195 131456195 A T snp 392.77 0/1 99 28 11 17 0.61 exonic rs142411393 SET AU nonsynonymous SNV NM_001122821 exon7 c.A723T p.E241D 0.000199681 0.001 8.492e-05 0.0005 0.15 T 1.000 D -0.971 T 0.974 D 0.969 D Pathogenic 9_131456385_-->TA 9 131456385 131456385 - TA indel 259.73 0/1 99 28 8 20 0.71 intronic rs10637043 SET AU NM_003011 exon7 c.4460+64insTA Uncertain 9_131465167_A->G 9 131465167 131465167 A G snp 1301.77 1/1 93 51 0 51 1.0 UTR5 rs1572915 PKN3 AU 0.998203 1 0.997532 0.9993 1 Uncertain 9_131468251_T->C 9 131468251 131468251 T C snp 3534.77 1/1 99 125 0 125 1.0 intronic rs1572916 PKN3 AU NM_013355 exon3 c.2964+93T>C 0.998203 1 Uncertain 9_131475951_T->C 9 131475951 131475951 T C snp 3390.77 1/1 99 123 1 122 0.99 intronic rs4837297 PKN3 AU NM_013355 exon9 c.10727+30T>C 0.990415 1 0.985314 0.9957 0.9998 Uncertain 9_131476205_T->C 9 131476205 131476205 T C snp 56.74 1/1 6 2 0 2 1.0 intronic rs2417124 PKN3 AU NM_013355 exon10 c.11130-119T>C 0.990615 1 Uncertain 9_131477544_G->A 9 131477544 131477544 G A snp 2289.77 1/1 99 90 0 90 1.0 intronic rs7854055 PKN3 AU NM_013355 exon14 c.12320+30G>A 0.858027 0.9167 0.871367 0.9496 0.9202 Uncertain 9_131478876_C->T 9 131478876 131478876 C T snp 44.74 1/1 6 2 0 2 1.0 intronic rs10819432 PKN3 AU NM_013355 exon16 c.13831-149C>T 0.850439 0.9107 Uncertain 9_131479023_T->C 9 131479023 131479023 T C snp 5830.77 1/1 99 218 0 218 1.0 splicing rs10739729 PKN3 AU NM_013355 exon16 c.13831-2T>C 0.990415 1 0.985161 0.9956 1 Pathogenic 9_131482467_T->C 9 131482467 131482467 T C snp 4826.77 1/1 99 168 0 168 1.0 intronic rs3750325 PKN3 AU NM_013355 exon21 c.17287-14T>C 0.83127 0.9157 0.828668 0.9201 0.9089 Uncertain 9_131483749_T->A 9 131483749 131483749 T A snp 1503.77 1/1 99 51 0 51 1.0 exonic rs2900268 ZDHHC12 AU nonsynonymous SNV NM_032799 exon5 c.A515T p.Q172L 0.998203 1 0.995911 0.9988 1 0.3 T 0.0 P -1.033 T 0.0 T 0.0 T ID=COSM4163388;OCCURENCE=1(thyroid) Pathogenic 9_131502112_A->G 9 131502112 131502112 A G snp 560.77 1/1 42 15 0 15 1.0 intronic rs2298044 ZER1 AU NM_006336 exon4 c.8594-97A>G 0.989217 0.9931 Uncertain 9_131502440_G->C 9 131502440 131502440 G C snp 1955.77 1/1 99 76 0 76 1.0 intronic rs3818931 ZER1 AU NM_006336 exon4 c.8783+42G>C 0.885583 0.9593 0.888487 0.9628 0.9579 Uncertain 9_131502460_G->T 9 131502460 131502460 G T snp 1693.77 1/1 99 60 0 60 1.0 intronic rs7027146 ZER1 AU NM_006336 exon4 c.8783+62G>T 0.989217 0.9931 Uncertain 9_131505092_A->C 9 131505092 131505092 A C snp 2318.77 1/1 99 83 0 83 1.0 intronic rs10739731 ZER1 AU NM_006336 exon8 c.11409+68A>C 0.998403 1 Uncertain 9_131550722_C->G 9 131550722 131550722 C G snp 1704.77 1/1 99 60 0 60 1.0 intronic rs1891076 TBC1D13 AU NM_018201 exon2 c.1054+36C>G 0.944688 0.9147 0.960634 0.9565 0.9192 Uncertain 9_131553768_A->G 9 131553768 131553768 A G snp 3617.77 1/1 99 112 0 112 1.0 intronic rs10760577 TBC1D13 AU NM_018201 exon4 c.4088+48A>G 0.996605 0.998 0.994925 0.9975 0.9985 Uncertain 9_131570178_T->C 9 131570178 131570178 T C snp 3425.77 1/1 99 121 0 121 1.0 UTR3 rs45609236 TBC1D13 AU 0.590056 0.6647 0.629709 0.6797 0.6422 Uncertain 9_131570183_C->G 9 131570183 131570183 C G snp 3139.77 1/1 99 114 0 114 1.0 UTR3 rs7862546 TBC1D13 AU 0.997204 1 0.994925 0.9986 1 Uncertain 9_131580998_C->T 9 131580998 131580998 C T snp 446.77 1/1 33 16 0 16 1.0 exonic rs2293969 ENDOG AU nonsynonymous SNV NM_004435 exon1 c.C35T p.S12L 0.597843 0.7331 0.6667 1 0.66 T 0.000 P -1.006 T 0.0 T 0.0 T ID=COSM4163392;OCCURENCE=1(thyroid) Pathogenic 9_131583170_T->C 9 131583170 131583170 T C snp 1644.77 1/1 99 60 0 60 1.0 UTR3 rs2280845 C9orf114 AU 0.601438 0.7272 0.620003 0.6956 0.7514 Uncertain 9_131585069_A->G 9 131585069 131585069 A G snp 1741.77 1/1 99 63 0 63 1.0 exonic rs2280843 C9orf114 AU nonsynonymous SNV NM_016390 exon12 c.T1106C p.I369T 0.603834 0.7331 0.621993 0.7422 0.7702 0.77 T 0.0 P -0.979 T 0.0 T 0.0 T ID=COSM4163394;OCCURENCE=1(thyroid) Pathogenic 9_131585205_T->C 9 131585205 131585205 T C snp 187.9 1/1 15 7 0 7 1.0 intronic rs2997919 C9orf114 AU NM_016390 exon1 c.69+93T>C 0.996605 1 Uncertain 9_131585216_G->T 9 131585216 131585216 G T snp 141.03 1/1 12 4 0 4 1.0 intronic rs2977994 C9orf114 AU NM_016390 exon1 c.69+104G>T 0.519369 0.6399 Uncertain 9_131585994_T->C 9 131585994 131585994 T C snp 2418.77 1/1 99 81 0 81 1.0 intronic rs2997918 C9orf114 AU NM_016390 exon2 c.982-31T>C 0.977835 1 0.977473 0.9918 1 Uncertain 9_131586632_T->C 9 131586632 131586632 T C snp 208.84 1/1 18 6 0 6 1.0 intronic rs2977992 C9orf114 AU NM_016390 exon3 c.1410+179T>C 0.984625 1 Uncertain 9_131586918_G->A 9 131586918 131586918 G A snp 583.77 1/1 45 17 0 17 1.0 intronic rs2997917 C9orf114 AU NM_016390 exon4 c.2006-131G>A 0.602037 0.7331 Uncertain 9_131587240_G->A 9 131587240 131587240 G A snp 3186.77 1/1 99 106 0 106 1.0 intronic rs2293968 C9orf114 AU NM_016390 exon5 c.2212-15G>A 0.523163 0.6399 0.559751 0.6759 0.6615 Uncertain 9_131588652_T->C 9 131588652 131588652 T C snp 6453.77 1/1 99 211 0 211 1.0 intronic rs2997914 C9orf114 AU NM_016390 exon7 c.3619-10T>C 0.980631 1 0.974243 0.9925 1 Uncertain 9_131589033_C->T 9 131589033 131589033 C T snp 129.03 1/1 12 5 0 5 1.0 intronic rs2997913 C9orf114 AU NM_016390 exon8 c.3865+125C>T 0.490615 0.6399 Uncertain 9_131589234_C->G 9 131589234 131589234 C G snp 2640.77 1/1 99 78 0 78 1.0 intronic rs2977991 C9orf114 AU NM_016390 exon9 c.4267-76C>G 0.973243 1 Uncertain 9_131589550_G->A 9 131589550 131589550 G A snp 46.77 0/1 33 3 1 2 0.67 intronic rs566134212 C9orf114 AU NM_016390 exon9 c.4427+80G>A 0.00139776 0.0069 Uncertain 9_131591832_G->A 9 131591832 131591832 G A snp 53.74 1/1 6 3 0 3 1.0 intronic rs2293966 C9orf114 AU NM_016390 exon12 c.6980-191G>A 0.490615 0.6399 Uncertain 9_131592193_T->C 9 131592193 131592193 T C snp 3236.77 1/1 99 110 0 110 1.0 upstream rs2997906 C9orf114 AU 0.997804 1 Uncertain 9_131599008_C->T 9 131599008 131599008 C T snp 928.77 1/1 69 29 0 29 1.0 intronic rs2759009 CCBL1 AU NM_001122671 exon7 c.3218-72C>T 0.519169 0.6399 Uncertain 9_131600111_T->C 9 131600111 131600111 T C snp 3265.77 1/1 99 119 0 119 1.0 intronic rs2280841 CCBL1 AU NM_001122671 exon8 c.4230+19T>C 0.599441 0.7331 0.628387 0.7080 0.7378 Uncertain 9_131670919_T->C 9 131670919 131670919 T C snp 7534.77 1/1 99 249 0 249 1.0 exonic rs3750319 LRRC8A AD synonymous SNV NM_019594 exon3 c.T1476C p.R492R 0.571086 0.6657 0.585743 0.6944 0.6903 Uncertain 9_131689361_G->A 9 131689361 131689361 G A snp 1873.77 0/1 99 183 100 83 0.45 exonic rs751340 PHYHD1 AU synonymous SNV NM_001100877 exon2 c.G78A p.A26A 0.369808 0.2371 0.391973 0.3763 0.1984 Uncertain 9_131699847_G->A 9 131699847 131699847 G A snp 107.77 0/1 99 17 11 6 0.35 intronic rs12686860 PHYHD1 AU NM_001100877 exon6 c.15433-188G>A 0.368211 0.2381 Uncertain 9_131702451_C->T 9 131702451 131702451 C T snp 36.77 0/1 33 3 1 2 0.67 intronic rs141381297 PHYHD1 AU NM_001100877 exon7 c.18045-196C>T 0.0173722 0.0437 Uncertain 9_131702891_A->G 9 131702891 131702891 A G snp 1357.77 0/1 99 106 49 57 0.54 exonic rs2273866 PHYHD1 AU nonsynonymous SNV NM_174933 exon10 c.A578G p.E193G 0.351438 0.2381 0.369445 0.3706 0.1999 0.4 T 1.000 P -0.963 T 0.001 T 0.003 T ID=COSM3927863;OCCURENCE=1(thyroid) Pathogenic 9_131709986_C->T 9 131709986 131709986 C T snp 598.77 0/1 99 51 22 29 0.57 UTR5 rs3750324 DOLK AR 0.0173722 0.0437 0.0274 0.0479 Uncertain 9_131710125_A->G 9 131710125 131710125 A G snp 897.77 0/1 99 82 40 42 0.51 intronic rs113527732 NUP188 AU NM_015354 exon1 c.32+95A>G 0.058107 0.0437 Uncertain 9_131711536_T->G 9 131711536 131711536 T G snp 1883.77 0/1 99 125 47 78 0.62 intronic rs17481198 NUP188 AU NM_015354 exon2 c.1524+14T>G 0.0173722 0.0437 0.0061 0.0286 Uncertain 9_131720475_A->G 9 131720475 131720475 A G snp 276.84 0/1 18 10 2 8 0.8 intronic rs76378657 NUP188 AU NM_015354 exon6 c.10335+142A>G 0.0183706 0.0437 Uncertain 9_131731718_C->T 9 131731718 131731718 C T snp 2485.77 0/1 99 240 126 114 0.47 exonic rs17452414 NUP188 AU synonymous SNV NM_015354 exon10 c.C837T p.I279I 0.0177716 0.0437 0.001000 0.0062 0.0284 Uncertain 9_131741434_T->C 9 131741434 131741434 T C snp 303.77 0/1 99 38 26 12 0.32 intronic rs76551117 NUP188 AU NM_015354 exon13 c.31542-106T>C 0.0173722 0.0437 Uncertain 9_131743114_T->C 9 131743114 131743114 T C snp 252.77 0/1 99 17 8 9 0.53 intronic rs2302814 NUP188 AU NM_015354 exon14 c.33006+110T>C 0.0175719 0.0437 Uncertain 9_131745102_T->C 9 131745102 131745102 T C snp 1059.77 0/1 99 106 66 40 0.38 intronic rs17481282 NUP188 AU NM_015354 exon17 c.35182-78T>C 0.0173722 0.0437 Uncertain 9_131752523_-->CA 9 131752523 131752523 - CA indel 2213.73 0/1 99 135 58 77 0.57 intronic rs201721327 NUP188 AU NM_015354 exon25 c.42507+18insCA 0.0173722 0.0437 0.0060 0.0284 Uncertain 9_131755425_A->G 9 131755425 131755425 A G snp 243.77 0/1 99 20 12 8 0.4 intronic rs17481303 NUP188 AU NM_015354 exon26 c.45477-50A>G 0.0173722 0.0437 0.0060 0.0285 Uncertain 9_131757125_A->G 9 131757125 131757125 A G snp 695.77 0/1 99 93 59 34 0.37 intronic rs17481317 NUP188 AU NM_015354 exon29 c.47136-9A>G 0.0565096 0.0437 0.047286 0.0194 0.0284 Uncertain 9_131761716_A->T 9 131761716 131761716 A T snp 136.77 0/1 99 13 8 5 0.38 intronic rs2302812 NUP188 AU NM_015354 exon33 c.51598+120A>T 0.279353 0.2212 Uncertain 9_131761899_A->G 9 131761899 131761899 A G snp 2267.77 0/1 99 201 105 96 0.48 splicing rs2302811 NUP188 AU NM_015354 exon34 c.51904-3A>G 0.279153 0.2212 0.295710 0.3567 0.1937 Pathogenic 9_131764923_T->C 9 131764923 131764923 T C snp 204.82 0/1 19 8 1 7 0.88 intronic rs17452520 NUP188 AU NM_015354 exon37 c.55097-172T>C 0.0173722 0.0437 Uncertain 9_131765927_T->C 9 131765927 131765927 T C snp 494.77 0/1 99 66 43 23 0.35 intronic rs77850716 NUP188 AU NM_015354 exon38 c.55735+194T>C 0.0173722 0.0437 0.0157 0.0567 Uncertain 9_131765987_T->C 9 131765987 131765987 T C snp 171.77 0/1 99 20 13 7 0.35 intronic rs10739740 NUP188 AU NM_015354 exon38 c.55735+254T>C 0.448682 0.4028 Uncertain 9_131767668_A->C 9 131767668 131767668 A C snp 1899.77 0/1 99 138 69 69 0.5 exonic rs2287363 NUP188 AU synonymous SNV NM_015354 exon40 c.A4596C p.S1532S 0.451677 0.4067 0.425342 0.4313 0.3817 Uncertain 9_131768102_C->T 9 131768102 131768102 C T snp 212.77 0/1 99 13 6 7 0.54 intronic rs17481372 NUP188 AU NM_015354 exon41 c.58057+47C>T 0.0173722 0.0437 0.0049 0.0285 Uncertain 9_131768776_T->C 9 131768776 131768776 T C snp 3324.77 0/1 99 241 104 137 0.57 splicing rs17452534 NUP188 AU NM_015354 exon44 c.58782-4T>C 0.0173722 0.0437 0.0060 0.0288 Pathogenic 9_131772389_T->G 9 131772389 131772389 T G snp 1817.77 0/1 99 148 71 77 0.52 intronic rs3750340 SH3GLB2 AU NM_001287046 exon5 c.1436-9T>G 0.837859 0.6617 0.882977 0.8359 0.6534 Uncertain 9_131774686_G->A 9 131774686 131774686 G A snp 170.77 0/1 99 16 9 7 0.44 intronic rs17452555 SH3GLB2 AU NM_001287046 exon7 c.3615+109G>A 0.0163738 0.0417 Uncertain 9_131784539_G->A 9 131784539 131784539 G A snp 73.77 0/1 99 11 7 4 0.36 intronic rs138489520 SH3GLB2 AU NM_001287046 exon11 c.13598-21G>A 0.0165735 0.0427 0.000077 0.0060 0.0276 Uncertain 9_131790351_G->C 9 131790351 131790351 G C snp 325.77 0/1 99 43 24 19 0.44 intronic rs75595824 SH3GLB2 AU NM_001287046 exon12 c.19408-19G>C 0.0161741 0.0417 0.0196 0.0147 Uncertain 9_131812200_C->T 9 131812200 131812200 C T snp 1916.77 0/1 99 167 83 84 0.5 exonic rs10988183 FAM73B AU synonymous SNV NM_032809 exon6 c.C633T p.D211D 0.00778754 0.0347 0.000923 0.0030 0.0389 Uncertain 9_131825922_T->G 9 131825922 131825922 T G snp 557.77 0/1 99 173 106 67 0.39 intronic FAM73B AU NM_032809 exon11 c.23037+12T>G Uncertain 9_131825927_T->G 9 131825927 131825927 T G snp 373.77 0/1 99 165 100 65 0.39 intronic rs750813278 FAM73B AU NM_032809 exon11 c.23037+17T>G 0.0004 0 Uncertain 9_131846774_G->A 9 131846774 131846774 G A snp 208.77 0/1 99 21 13 8 0.38 intronic rs10988199 DOLPP1 AU NM_020438 exon2 c.3536-172G>A 0.369609 0.2937 Uncertain 9_131846957_T->C 9 131846957 131846957 T C snp 1792.77 0/1 99 142 68 74 0.52 exonic rs11541836 DOLPP1 AU synonymous SNV NM_001135917 exon2 c.T87C p.S29S 0.365415 0.2956 0.450331 0.5223 0.2649 ID=COSM4163402;OCCURENCE=1(thyroid) Uncertain 9_131848382_T->A 9 131848382 131848382 T A snp 859.77 0/1 99 71 34 37 0.52 intronic rs7859344 DOLPP1 AU NM_020438 exon6 c.5007-35T>A 0.573682 0.626 0.575888 0.6594 0.5659 Uncertain 9_131857630_C->T 9 131857630 131857630 C T snp 340.77 0/1 99 22 9 13 0.59 UTR3 rs2229419 CRAT AU 0.377396 0.3631 0.360935 0.3228 0.4172 Uncertain 9_131859578_A->C 9 131859578 131859578 A C snp 1062.77 0/1 99 97 54 43 0.44 exonic rs776369491 CRAT AU nonsynonymous SNV NM_000755 exon12 c.T1478G p.V493G 3.934e-05 0.0005 0.06 T 1 D -0.427 T 0.578 P 0.419 P Pathogenic 9_131860901_G->T 9 131860901 131860901 G T snp 3921.77 1/1 99 149 1 148 0.99 exonic rs3118635 CRAT AU nonsynonymous SNV NM_000755 exon9 c.C1114A p.L372M 0.996406 1 0.996002 0.9987 1 0.12 T 1.000 P -0.935 T 0.0 T 0.001 T ID=COSM4163404;OCCURENCE=1(thyroid) Pathogenic 9_131862073_G->A 9 131862073 131862073 G A snp 3330.77 1/1 99 114 0 114 1.0 intronic rs3118638 CRAT AU NM_001257363 exon7 c.4469-71G>A 0.951877 0.9901 Uncertain 9_131862706_GG->- 9 131862706 131862707 GG - indel 224.87 1/1 15 5 0 5 1.0 intronic rs10549379 CRAT AU NM_001257363 exon8 c.5114-83_5114-82delGG 0.85024 0.9901 Uncertain 9_131862717_G->A 9 131862717 131862717 G A snp 168.77 0/1 99 14 8 6 0.43 intronic rs545911718 CRAT AU NM_001257363 exon8 c.5114-72G>A 0.00239617 0.0109 Uncertain 9_131862730_C->T 9 131862730 131862730 C T snp 421.77 0/1 99 28 15 13 0.46 intronic rs10819462 CRAT AU NM_001257363 exon8 c.5114-59C>T 0.555511 0.6002 Uncertain 9_131862781_G->A 9 131862781 131862781 G A snp 1051.77 0/1 99 85 42 43 0.51 intronic rs10988204 CRAT AU NM_001257363 exon8 c.5114-8G>A 0.529752 0.5992 0.527987 0.6290 0.5390 Uncertain 9_131863079_T->C 9 131863079 131863079 T C snp 537.77 0/1 99 31 11 20 0.65 intronic rs7866897 CRAT AU NM_001257363 exon8 c.5293+111T>C 0.629792 0.6339 Uncertain 9_131864950_C->T 9 131864950 131864950 C T snp 224.77 0/1 97 12 4 8 0.67 intronic rs746873 CRAT AU NM_001257363 exon10 c.7169+106C>T 0.183107 0.1915 Uncertain 9_131865493_C->T 9 131865493 131865493 C T snp 141.77 0/1 99 12 6 6 0.5 intronic rs3124498 CRAT AU NM_001257363 exon11 c.7670+148C>T 0.183107 0.1925 Uncertain 9_131866388_C->T 9 131866388 131866388 C T snp 74.77 0/1 99 10 6 4 0.4 intronic rs2768630 CRAT AU NM_001257363 exon12 c.8791-78C>T 0.22504 0.2619 Uncertain 9_131871144_A->G 9 131871144 131871144 A G snp 1467.77 1/1 71 59 1 58 0.98 intronic rs2768629 CRAT AU NM_001257363 exon14 c.13782-313A>G 0.996406 1 Uncertain 9_131871249_A->C 9 131871249 131871249 A C snp 891.77 1/1 66 27 0 27 1.0 intronic rs2541163 CRAT AU NM_001257363 exon14 c.13782-208A>C 0.995407 1 Uncertain 9_131871435_A->C 9 131871435 131871435 A C snp 3222.65 1/1 99 118 0 118 1.0 intronic rs2541162 CRAT AU NM_001257363 exon14 c.13782-22A>C 0.996406 1 0.9987 1 Uncertain 9_131872848_CGCCGC->- 9 131872848 131872853 CGCCGC - indel 1288.73 0/1 99 36 9 27 0.75 UTR5 rs11278777 CRAT AU 0.371805 0.3839 0.355698 Uncertain 9_131873222_G->A 9 131873222 131873222 G A snp 394.77 0/1 99 33 17 16 0.48 upstream rs3814492 CRAT AU 0.577875 0.6151 Uncertain 9_131873256_A->C 9 131873256 131873256 A C snp 565.77 0/1 99 53 28 25 0.47 UTR5 rs3118625 PPP2R4 AU 0.228834 0.2669 0.249738 0.2713 0.2960 Uncertain 9_131873638_T->G 9 131873638 131873638 T G snp 423.77 1/1 33 11 0 11 1.0 UTR5 rs3124501 PPP2R4 AU 0.996006 1 Uncertain 9_131881492_G->C 9 131881492 131881492 G C snp 91.77 0/1 33 7 2 5 0.71 intronic rs10819466 PPP2R4 AU NM_021131 exon3 c.8912-1299G>C 0.574081 0.6091 Uncertain 9_131882761_T->C 9 131882761 131882761 T C snp 1323.77 1/1 96 48 1 47 0.98 intronic rs9409311 PPP2R4 AU NM_021131 exon3 c.8912-30T>C 0.997005 1 0.996770 0.9990 1 Uncertain 9_131882961_G->A 9 131882961 131882961 G A snp 647.77 0/1 99 48 16 32 0.67 intronic rs3739843 PPP2R4 AU NM_021131 exon3 c.9010+72G>A 0.573283 0.6071 Uncertain 9_131885279_G->A 9 131885279 131885279 G A snp 875.77 0/1 99 51 20 31 0.61 intronic rs3118628 PPP2R4 AU NM_021131 exon4 c.11451-51G>A 0.180112 0.1885 0.234946 Uncertain 9_131885534_C->T 9 131885534 131885534 C T snp 34.77 0/1 63 7 5 2 0.29 intronic rs3118629 PPP2R4 AU NM_021131 exon4 c.11538+117C>T 0.229233 0.2738 Uncertain 9_131890591_C->G 9 131890591 131890591 C G snp 41.74 1/1 6 2 0 2 1.0 intronic rs9409312 PPP2R4 AU NM_178001 exon4 c.16468+244C>G 0.996406 1 Uncertain 9_131891152_C->G 9 131891152 131891152 C G snp 190.77 0/1 99 16 8 8 0.5 intronic rs7023900 PPP2R4 AU NM_021131 exon5 c.17384-111C>G 0.683706 0.6091 Uncertain 9_131896999_C->T 9 131896999 131896999 C T snp 623.77 0/1 99 58 32 26 0.45 intronic rs3124509 PPP2R4 AU NM_021131 exon7 c.23194-74C>T 0.311102 0.3889 Uncertain 9_131898880_A->G 9 131898880 131898880 A G snp 3096.77 1/1 99 107 0 107 1.0 splicing rs1536548 PPP2R4 AU NM_021131 exon8 c.24995+6A>G 0.996406 1 0.996002 0.9987 1 Pathogenic 9_131899846_T->C 9 131899846 131899846 T C snp 1320.77 1/1 93 49 0 49 1.0 intronic rs3118631 PPP2R4 AU NM_021131 exon9 c.25991-24T>C 0.996406 1 0.995999 0.9987 1 Uncertain 9_131900180_G->A 9 131900180 131900180 G A snp 114.77 0/1 99 11 6 5 0.45 intronic rs2297112 PPP2R4 AU NM_021131 exon9 c.26092+209G>A 0.573083 0.6091 Uncertain 9_131905177_T->G 9 131905177 131905177 T G snp 132.77 0/1 99 20 15 5 0.25 intronic rs2254230 PPP2R4 AU NM_021131 exon10 c.30952+346T>G 0.230032 0.2728 0.3488 0.3111 0.0 P ID=COSM4163407;OCCURENCE=1(thyroid) Uncertain 9_131905814_T->C 9 131905814 131905814 T C snp 223.84 1/1 18 8 0 8 1.0 intronic rs913272 PPP2R4 AU NM_021131 exon10 c.30952+983T>C 0.996406 1 Uncertain 9_131909736_C->T 9 131909736 131909736 C T snp 1147.77 0/1 99 113 60 53 0.47 exonic rs2480452 PPP2R4 AU nonsynonymous SNV NM_001271832 exon9 c.C878T p.S293L 0.0792732 0.1855 0.055667 0.0808 0.2021 0.03 T 1.0 P -1.099 T 0.994 D 0.788 D Pathogenic 9_131940019_G->A 9 131940019 131940019 G A snp 157.77 0/1 99 16 8 8 0.5 exonic rs184457 IER5L AU nonsynonymous SNV NM_203434 exon1 c.C313T p.P105S 0.184904 0.1567 0.2658 0.2167 0.12 T 0.012 P -1.029 T 0.241 T 0.096 T Pathogenic 9_132084621_G->A 9 132084621 132084621 G A snp 3501.77 0/1 99 250 122 128 0.51 exonic rs913770 C9orf106 AU nonsynonymous SNV NM_001012715 exon2 c.G529A p.G177R 0.1877 0.1538 0.147811 0.0965 0.1492 Pathogenic 9_132084885_A->G 9 132084885 132084885 A G snp 2405.77 1/1 99 73 0 73 1.0 downstream rs913771 C9orf106 AU 0.869209 0.9048 Uncertain 9_132374601_C->A 9 132374601 132374601 C A snp 1682.77 0/1 99 134 64 70 0.52 UTR3 rs78833435 C9orf50 AU 0.170727 0.2937 0.107104 0.2023 0.2970 Uncertain 9_132375432_C->T 9 132375432 132375432 C T snp 1349.77 0/1 99 136 69 67 0.49 exonic rs2302779 C9orf50 AU nonsynonymous SNV NM_199350 exon6 c.G1142A p.R381Q 0.21246 0.2937 0.144626 0.1902 0.2854 0 D 0.0 P -0.913 T 0.772 T 0.061 P Pathogenic 9_132377728_C->T 9 132377728 132377728 C T snp 1732.77 0/1 99 130 58 72 0.55 intronic rs918166 C9orf50 AU NM_199350 exon4 c.3137-34C>T 0.55651 0.498 0.484161 0.4771 0.4977 Uncertain 9_132377900_C->T 9 132377900 132377900 C T snp 852.77 0/1 99 69 34 35 0.51 exonic rs918165 C9orf50 AU nonsynonymous SNV NM_199350 exon4 c.G743A p.R248K 0.556709 0.498 0.484699 0.4801 0.4972 0.92 T 0.0 P -0.973 T 0.0 T 0.0 T ID=COSM3763669;OCCURENCE=3(large_intestine) Pathogenic 9_132381749_G->A 9 132381749 132381749 G A snp 675.77 0/1 99 49 23 26 0.53 intronic rs4240434 C9orf50 AU NM_199350 exon5 c.7173-49G>A 0.447684 0.505 0.517069 0.5302 0.5110 Uncertain 9_132382253_C->T 9 132382253 132382253 C T snp 278.77 0/1 99 17 8 9 0.53 intronic rs7467760 C9orf50 AU NM_199350 exon7 c.7720-92C>T 0.447284 0.506 Uncertain 9_132382596_C->A 9 132382596 132382596 C A snp 372.77 0/1 99 29 13 16 0.55 exonic rs111606531 C9orf50 AU synonymous SNV NM_199350 exon1 c.G258T p.A86A 0.197085 0.3085 0.1905 . Uncertain 9_132395245_T->C 9 132395245 132395245 T C snp 52.74 1/1 6 2 0 2 1.0 intronic rs2287296 NTMT1 AU NM_014064 exon2 c.162+101T>C 0.954273 0.9355 0.9630 0.9418 Uncertain 9_132396281_G->C 9 132396281 132396281 G C snp 2867.77 1/1 99 103 0 103 1.0 intronic rs10819551 NTMT1 AU NM_014064 exon3 c.1350-51G>C 0.967652 0.9633 0.979944 Uncertain 9_132396347_G->A 9 132396347 132396347 G A snp 2213.77 0/1 99 167 79 88 0.53 exonic rs149346642 NTMT1 AU synonymous SNV NM_001286796 exon3 c.G177A p.K59K 0.000199681 0.001 0.0003 0.0039 Uncertain 9_132396655_A->G 9 132396655 132396655 A G snp 2307.77 1/1 99 72 0 72 1.0 intronic rs1558873 NTMT1 AU NM_014064 exon3 c.1603+70A>G 0.935703 0.9087 Uncertain 9_132400480_G->A 9 132400480 132400480 G A snp 3363.77 0/1 99 250 114 136 0.54 exonic rs3739851 ASB6 AU synonymous SNV NM_001202403 exon5 c.C768T p.A256A 0.461462 0.5129 0.528218 0.5323 0.5233 Uncertain 9_132401089_A->G 9 132401089 132401089 A G snp 298.78 1/1 24 8 0 8 1.0 intronic rs888296 ASB6 AU NM_017873 exon2 c.870+151A>G 0.996206 1 Uncertain 9_132401824_G->A 9 132401824 132401824 G A snp 1311.77 1/1 93 51 0 51 1.0 intronic rs2302780 ASB6 AU NM_017873 exon4 c.1719+37G>A 0.952476 0.9077 0.979231 0.9713 0.9105 Uncertain 9_132402908_C->G 9 132402908 132402908 C G snp 2025.77 1/1 99 79 0 79 1.0 exonic rs2241247 ASB6 AU synonymous SNV NM_001202403 exon2 c.G207C p.V69V 0.934904 0.9147 0.959403 0.9655 0.9082 Uncertain 9_132404304_C->G 9 132404304 132404304 C G snp 2056.77 1/1 99 64 0 64 1.0 UTR5 rs4837396 ASB6 AU 0.96905 0.9633 0.981684 0.9790 0.9601 Uncertain 9_132501881_A->C 9 132501881 132501881 A C snp 641.77 0/1 99 52 25 27 0.52 UTR3 rs2302821 PTGES AU 0.305112 0.5298 0.153236 0.2192 0.4969 Uncertain 9_132511199_C->T 9 132511199 132511199 C T snp 185.77 0/1 99 16 8 8 0.5 intronic rs10988492 PTGES AU NM_004878 exon2 c.9127+183C>T 0.129593 0.1944 Uncertain 9_132515081_T->C 9 132515081 132515081 T C snp 773.77 0/1 99 69 38 31 0.45 intronic rs2241271 PTGES AU NM_004878 exon3 c.13276-84T>C 0.273163 0.1677 Uncertain 9_132569442_G->A 9 132569442 132569442 G A snp 603.77 0/1 99 73 47 26 0.36 intronic rs2302820 TOR1B AU NM_014506 exon3 c.3975-24G>A 0.261382 0.2272 0.259419 0.2604 0.2183 Uncertain 9_132569750_C->G 9 132569750 132569750 C G snp 54.77 0/1 83 13 10 3 0.23 intronic rs11789668 TOR1B AU NM_014506 exon3 c.4151+108C>G 0.161142 0.2024 Uncertain 9_132572627_T->G 9 132572627 132572627 T G snp 103.77 0/1 78 10 6 4 0.4 UTR3 rs553747620 TOR1B AU 0.214058 0.1736 Uncertain 9_132572629_T->G 9 132572629 132572629 T G snp 311.78 1/1 24 10 0 10 1.0 UTR3 rs1220509 TOR1B AU 0.973243 0.9841 Uncertain 9_132576060_C->A 9 132576060 132576060 C A snp 34.77 0/1 31 3 1 2 0.67 UTR3 rs1182 TOR1A AU,AD 0.158746 0.1984 ID=CR097994;DIS=Primary blepharospasm, spread, association with;TAG=DP;PUB=19202559 DP Uncertain 9_132580686_G->C 9 132580686 132580686 G C snp 286.77 0/1 99 17 7 10 0.59 intronic rs13297609 TOR1A AU,AD NM_000113 exon2 c.4548-112G>C 0.146166 0.2014 Uncertain 9_132585058_G->A 9 132585058 132585058 G A snp 3064.77 0/1 99 244 119 125 0.51 exonic rs2296793 TOR1A AU,AD synonymous SNV NM_000113 exon2 c.C246T p.A82A 0.226238 0.2133 0.234276 0.2275 0.2074 Uncertain 9_132586468_C->T 9 132586468 132586468 C T snp 505.77 0/1 99 37 15 22 0.59 upstream rs13300897 TOR1A AU,AD 0.158946 0.1984 Uncertain 9_132590352_A->G 9 132590352 132590352 A G snp 261.77 0/1 99 29 18 11 0.38 UTR3 rs1806988 C9orf78 AU 0.237819 0.2143 Uncertain 9_132590353_G->T 9 132590353 132590353 G T snp 269.77 0/1 99 30 19 11 0.37 UTR3 rs1806989 C9orf78 AU 0.237819 0.2143 Uncertain 9_132590431_C->G 9 132590431 132590431 C G snp 540.77 0/1 99 68 41 27 0.4 UTR3 rs732074 C9orf78 AU 0.237819 0.2143 0.241735 0.2414 0.2076 Uncertain 9_132591272_T->C 9 132591272 132591272 T C snp 906.77 0/1 99 67 30 37 0.55 intronic rs55962905 C9orf78 AU NM_016520 exon2 c.1044-211T>C 0.24401 0.2143 0.3873 0.2611 Uncertain 9_132591372_T->G 9 132591372 132591372 T G snp 1652.77 0/1 99 143 71 72 0.5 intronic rs7032945 C9orf78 AU NM_016520 exon2 c.1044-111T>G 0.237819 0.2143 0.3069 0.2845 Uncertain 9_132591425_C->T 9 132591425 132591425 C T snp 1592.77 0/1 99 157 84 73 0.46 intronic rs7047271 C9orf78 AU NM_016520 exon2 c.1044-58C>T 0.226238 0.1994 0.2998 0.2729 Uncertain 9_132591509_A->G 9 132591509 132591509 A G snp 1490.77 0/1 99 153 87 66 0.43 exonic rs3818553 C9orf78 AU synonymous SNV NM_016520 exon8 c.T753C p.G251G 0.23762 0.2143 0.241427 0.2424 0.2068 1.000 P Uncertain 9_132593982_T->C 9 132593982 132593982 T C snp 46.77 0/1 36 4 2 2 0.5 intronic rs2062801 C9orf78 AU NM_016520 exon5 c.3735-192T>C 0.232827 0.2143 Uncertain 9_132594362_C->T 9 132594362 132594362 C T snp 164.77 0/1 57 10 3 7 0.7 intronic rs2062800 C9orf78 AU NM_016520 exon5 c.3813+110C>T 0.232628 0.2143 Uncertain 9_132594378_A->G 9 132594378 132594378 A G snp 85.77 0/1 72 7 3 4 0.57 intronic rs2062799 C9orf78 AU NM_016520 exon5 c.3813+126A>G 0.232628 0.2143 Uncertain 9_132595664_G->A 9 132595664 132595664 G A snp 1505.77 0/1 99 136 75 61 0.45 intronic rs72755238 C9orf78 AU NM_016520 exon6 c.5286-61G>A 0.232628 0.2143 0.232589 Uncertain 9_132595685_C->G 9 132595685 132595685 C G snp 2042.77 0/1 99 180 96 84 0.47 intronic rs45507500 C9orf78 AU NM_016520 exon6 c.5286-40C>G 0.232628 0.2143 0.235045 0.2404 0.2080 Uncertain 9_132596031_T->C 9 132596031 132596031 T C snp 83.77 0/1 30 4 1 3 0.75 intronic rs2274507 C9orf78 AU NM_016520 exon7 c.5549+43T>C 0.154752 0.1984 0.158927 0.2109 0.2056 Uncertain 9_132597021_C->T 9 132597021 132597021 C T snp 336.77 0/1 99 36 20 16 0.44 exonic rs3814547 C9orf78 AU synonymous SNV NM_016520 exon2 c.G108A p.E36E 0.232827 0.2143 0.235507 0.2402 0.2075 Uncertain 9_132597621_T->C 9 132597621 132597621 T C snp 229.77 0/1 99 26 17 9 0.35 upstream rs11790613 C9orf78 AU 0.300519 0.2143 Uncertain 9_132615077_C->T 9 132615077 132615077 C T snp 406.77 0/1 99 27 12 15 0.56 intronic rs2296786 USP20 AU NM_001110303 exon3 c.81+162C>T 0.573482 0.6974 Uncertain 9_132618578_T->C 9 132618578 132618578 T C snp 4602.77 1/1 99 158 0 158 1.0 intronic rs4836674 USP20 AU NM_001110303 exon4 c.3751-7T>C 0.884385 0.997 0.865295 0.9152 0.9968 Uncertain 9_132618807_G->A 9 132618807 132618807 G A snp 1274.77 1/1 93 41 0 41 1.0 intronic rs7862315 USP20 AU NM_001110303 exon4 c.3805+168G>A 0.873602 0.9831 Uncertain 9_132618877_A->G 9 132618877 132618877 A G snp 50.74 1/1 6 2 0 2 1.0 intronic rs7862118 USP20 AU NM_001110303 exon4 c.3805+238A>G 0.884385 0.997 Uncertain 9_132620224_A->G 9 132620224 132620224 A G snp 4117.77 1/1 99 151 1 150 0.99 intronic rs2417150 USP20 AU NM_001110303 exon5 c.5494-104A>G 0.884385 0.997 Uncertain 9_132620364_T->C 9 132620364 132620364 T C snp 4156.77 1/1 99 141 0 141 1.0 exonic rs10819568 USP20 AU synonymous SNV NM_001008563 exon5 c.T171C p.F57F 0.884385 0.997 0.864863 0.9154 0.9968 ID=COSM4163410,COSM4163409,COSM4163408;OCCURENCE=1(thyroid) Uncertain 9_132620458_C->A 9 132620458 132620458 C A snp 1360.77 1/1 99 46 0 46 1.0 intronic rs10819569 USP20 AU NM_001110303 exon5 c.5557+67C>A 0.873403 0.9831 0.846693 Uncertain 9_132620464_C->T 9 132620464 132620464 C T snp 1368.77 1/1 99 44 0 44 1.0 intronic rs10760638 USP20 AU NM_001110303 exon5 c.5557+73C>T 0.884385 0.997 Uncertain 9_132620620_T->C 9 132620620 132620620 T C snp 314.78 1/1 24 10 0 10 1.0 intronic rs2174156 USP20 AU NM_001110303 exon6 c.5911-125T>C 0.884385 0.997 Uncertain 9_132620707_T->C 9 132620707 132620707 T C snp 2173.77 1/1 99 80 0 80 1.0 intronic rs2134601 USP20 AU NM_001110303 exon6 c.5911-38T>C 0.884385 0.997 0.865463 0.9153 0.9968 Uncertain 9_132620990_T->C 9 132620990 132620990 T C snp 1298.77 1/1 96 35 0 35 1.0 intronic rs2174157 USP20 AU NM_001110303 exon6 c.6043+113T>C 0.999601 1 Uncertain 9_132623075_A->G 9 132623075 132623075 A G snp 508.77 1/1 39 15 0 15 1.0 intronic rs1503374 USP20 AU NM_001110303 exon7 c.8381-140A>G 0.94389 1 Uncertain 9_132623293_C->T 9 132623293 132623293 C T snp 5432.77 1/1 99 217 0 217 1.0 exonic rs1503375 USP20 AU synonymous SNV NM_001008563 exon7 c.C408T p.D136D 0.873403 0.9831 0.852620 0.9009 0.9776 Uncertain 9_132623868_T->C 9 132623868 132623868 T C snp 5335.77 1/1 99 185 0 185 1.0 exonic rs10115249 USP20 AU synonymous SNV NM_001008563 exon8 c.T474C p.A158A 0.884385 0.997 0.863901 0.9153 0.9968 Uncertain 9_132623917_C->A 9 132623917 132623917 C A snp 3414.77 1/1 99 114 0 114 1.0 intronic rs10124224 USP20 AU NM_001110303 exon8 c.9057+26C>A 0.884385 0.997 0.864946 0.9155 0.9967 Uncertain 9_132624023_T->C 9 132624023 132624023 T C snp 234.8 1/1 21 7 0 7 1.0 intronic rs10115279 USP20 AU NM_001110303 exon8 c.9057+132T>C 0.884385 0.997 Uncertain 9_132625352_G->T 9 132625352 132625352 G T snp 54.74 1/1 6 3 0 3 1.0 intronic rs4836675 USP20 AU NM_001110303 exon9 c.10630-112G>T 0.80611 0.9821 Uncertain 9_132625417_C->T 9 132625417 132625417 C T snp 396.77 1/1 30 14 0 14 1.0 intronic rs4837419 USP20 AU NM_001110303 exon9 c.10630-47C>T 0.873003 0.9821 0.863151 0.8793 0.9742 Uncertain 9_132625418_A->G 9 132625418 132625418 A G snp 393.77 1/1 30 14 0 14 1.0 intronic rs4836676 USP20 AU NM_001110303 exon9 c.10630-46A>G 0.884385 0.997 0.8966 0.9952 Uncertain 9_132625602_T->C 9 132625602 132625602 T C snp 3415.77 1/1 99 131 0 131 1.0 intronic rs2900279 USP20 AU NM_001110303 exon9 c.10744+24T>C 0.883586 0.995 0.871797 0.8958 0.9956 Uncertain 9_132627480_C->T 9 132627480 132627480 C T snp 2827.77 1/1 99 94 2 92 0.98 intronic rs913319 USP20 AU NM_001110303 exon10 c.12747-101C>T 0.884385 0.997 Uncertain 9_132627503_C->T 9 132627503 132627503 C T snp 1669.77 0/1 99 149 79 70 0.47 intronic rs750466 USP20 AU NM_001110303 exon10 c.12747-78C>T 0.228834 0.6558 Uncertain 9_132627723_G->A 9 132627723 132627723 G A snp 4141.77 1/1 99 140 0 140 1.0 intronic rs913320 USP20 AU NM_001110303 exon10 c.12826+63G>A 0.873403 0.9831 0.846693 Uncertain 9_132630231_A->G 9 132630231 132630231 A G snp 1963.77 1/1 99 65 0 65 1.0 intronic rs913325 USP20 AU NM_001110303 exon11 c.15449-52A>G 0.880192 0.997 Uncertain 9_132630665_GAC->- 9 132630665 132630667 GAC - indel 9289.73 1/1 99 190 0 190 1.0 exonic rs10602985 USP20 AU nonframeshift deletion NM_001008563 exon11 c.1072_1074del p.358_358del 0.848642 0.9831 0.809304 0.8939 0.9781 ID=COSM1105894,COSM1105893,COSM1105896;OCCURENCE=1(breast),1(large_intestine),1(endometrium) Uncertain 9_132631680_T->C 9 132631680 132631680 T C snp 4867.77 1/1 99 186 0 186 1.0 exonic rs6478920 USP20 AU synonymous SNV NM_001008563 exon13 c.T1368C p.L456L 0.888978 0.997 0.869221 0.9168 0.9967 Uncertain 9_132632162_-->C 9 132632162 132632162 - C indel 804.73 1/1 63 28 0 28 1.0 intronic rs397690107 USP20 AU NM_001110303 exon14 c.17289+39insC 0.867812 0.997 0.839471 0.9103 0.9967 Uncertain 9_132635653_A->G 9 132635653 132635653 A G snp 4259.77 1/1 99 158 0 158 1.0 intronic rs1809959 USP20 AU NM_001110303 exon16 c.20926-107A>G 0.860823 0.997 Uncertain 9_132635944_C->G 9 132635944 132635944 C G snp 5718.77 1/1 99 200 0 200 1.0 intronic rs2296787 USP20 AU NM_001110303 exon17 c.21143-33C>G 0.851637 0.9831 0.827141 0.8932 0.9774 Uncertain 9_132636031_A->G 9 132636031 132636031 A G snp 4239.77 1/1 99 151 0 151 1.0 intronic rs4332226 USP20 AU NM_001110303 exon17 c.21189+8A>G 0.861621 0.997 0.836470 0.9075 0.9964 Uncertain 9_132636033_T->C 9 132636033 132636033 T C snp 4133.77 1/1 99 150 0 150 1.0 intronic rs4415421 USP20 AU NM_001110303 exon17 c.21189+10T>C 0.861821 0.997 0.837073 0.9077 0.9964 Uncertain 9_132636203_A->G 9 132636203 132636203 A G snp 206.84 1/1 18 6 0 6 1.0 intronic rs4332227 USP20 AU NM_001110303 exon17 c.21189+180A>G 0.936502 0.9861 Uncertain 9_132637712_G->A 9 132637712 132637712 G A snp 2926.77 0/1 99 250 124 126 0.5 exonic rs735115 USP20 AU synonymous SNV NM_001008563 exon20 c.G2172A p.A724A 0.207867 0.1885 0.275207 0.3127 0.1878 ID=COSM3982751,COSM3982750,COSM3982749;OCCURENCE=1(thyroid) Uncertain 9_132640726_T->G 9 132640726 132640726 T G snp 540.77 0/1 99 43 19 24 0.56 intronic rs2296788 USP20 AU NM_001110303 exon23 c.25885+7T>G 0.212061 0.1915 0.3769 0.2379 Uncertain 9_132658044_T->C 9 132658044 132658044 T C snp 351.78 1/1 27 9 0 9 1.0 intronic rs2047837 FNBP1 AU NM_015033 exon2 c.5299-72T>C 0.999201 1 Uncertain 9_132662786_C->T 9 132662786 132662786 C T snp 345.77 0/1 99 54 36 18 0.33 exonic rs1023000 FNBP1 AU nonsynonymous SNV NM_015033 exon14 c.G1469A p.S490N 0.634784 0.7927 0.545914 0.5926 0.7877 0.12 T 0.0 P -0.917 T 0.0 T 0.012 T ID=COSM3763674,COSM3763675;OCCURENCE=1(large_intestine) Pathogenic 9_132671359_-->G 9 132671359 132671359 - G indel 175.73 0/1 99 35 22 13 0.37 intronic rs3215850 FNBP1 AU NM_015033 exon6 c.18461+81insG 0.754048 0.7904 0.8687 Uncertain 9_132672289_C->A 9 132672289 132672289 C A snp 2571.77 0/1 99 183 84 99 0.54 intronic rs76629631 FNBP1 AU NM_015033 exon6 c.18461+1011C>A 0.0960463 0.0942 Uncertain 9_132672319_G->A 9 132672319 132672319 G A snp 7164.77 1/1 99 250 2 248 0.99 intronic rs7855720 FNBP1 AU NM_015033 exon6 c.18461+1041G>A 0.999401 1 Uncertain 9_132678195_G->A 9 132678195 132678195 G A snp 1060.77 0/1 99 134 87 47 0.35 intronic rs7867211 FNBP1 AU NM_015033 exon7 c.25427-49G>A 0.788139 0.8938 0.803832 0.8239 0.8767 Uncertain 9_132681619_C->T 9 132681619 132681619 C T snp 83.77 0/1 30 4 1 3 0.75 intronic rs1054874 FNBP1 AU NM_015033 exon7 c.25442+3360C>T 0.805911 0.8988 Uncertain 9_132686186_A->G 9 132686186 132686186 A G snp 962.77 1/1 69 39 0 39 1.0 exonic rs4836680 FNBP1 AU synonymous SNV NM_015033 exon10 c.T1107C p.H369H 0.999401 1 0.998755 0.9997 1 1.0 P -1.000 T Likely benign 9_132689671_A->G 9 132689671 132689671 A G snp 4094.77 1/1 99 131 0 131 1.0 intronic rs4837429 FNBP1 AU NM_015033 exon10 c.36803+51A>G 0.999401 1 0.998849 Uncertain 9_132720720_-->A 9 132720720 132720720 - A indel 446.73 0/1 99 41 20 21 0.51 intronic rs11394970 FNBP1 AU NM_015033 exon13 c.67952-49insA 0.864617 0.9077 0.8602 0.8650 Uncertain 9_132720770_A->G 9 132720770 132720770 A G snp 915.77 0/1 99 78 37 41 0.53 exonic rs17519205 FNBP1 AU synonymous SNV NM_015033 exon5 c.T408C p.S136S 0.0908546 0.0813 0.084163 0.1772 0.2055 1.000 P -1.080 T ID=COSM4163424,COSM4163423;OCCURENCE=1(thyroid) Likely benign 9_132720912_AAAC->- 9 132720912 132720915 AAAC - indel 2156.73 0/1 99 93 46 47 0.51 intronic rs113504493 FNBP1 AU NM_015033 exon13 c.68015+80_68015+83delAAAC 0.0738818 0.0754 Uncertain 9_132720981_C->T 9 132720981 132720981 C T snp 264.77 0/1 99 29 19 10 0.34 intronic rs78526807 FNBP1 AU NM_015033 exon13 c.68015+149C>T 0.0738818 0.0754 Uncertain 9_132720987_C->T 9 132720987 132720987 C T snp 163.77 0/1 99 23 15 8 0.35 intronic rs77998122 FNBP1 AU NM_015033 exon13 c.68015+155C>T 0.0740815 0.0754 Uncertain 9_132816398_-->C 9 132816398 132816398 - C indel 5410.73 1/1 99 154 0 154 1.0 intronic rs397736670 GPR107 AU NM_001136558 exon1 c.141+46insC 0.998003 1 0.994380 0.9992 1 Uncertain 9_132841808_G->C 9 132841808 132841808 G C snp 99.28 1/1 9 4 0 4 1.0 intronic rs6478942 GPR107 AU NM_001136558 exon5 c.25697-100G>C 0.986222 1 Uncertain 9_132841843_C->T 9 132841843 132841843 C T snp 148.77 0/1 99 18 10 8 0.44 intronic rs56026297 GPR107 AU NM_001136558 exon5 c.25697-65C>T 0.086262 0.1359 Uncertain 9_132845689_G->A 9 132845689 132845689 G A snp 146.77 0/1 99 10 5 5 0.5 intronic rs7868870 GPR107 AU NM_001136558 exon6 c.29632-154G>A 0.640375 0.8006 Uncertain 9_132845723_T->A 9 132845723 132845723 T A snp 526.77 0/1 99 29 11 18 0.62 intronic rs7855078 GPR107 AU NM_001136558 exon6 c.29632-120T>A 0.495407 0.7917 Uncertain 9_132845986_T->C 9 132845986 132845986 T C snp 1734.77 0/1 99 127 63 64 0.5 intronic rs10819597 GPR107 AU NM_001136558 exon6 c.29670+105T>C 0.639976 0.8006 Uncertain 9_132848653_-->T 9 132848653 132848653 - T indel 2117.73 1/1 99 53 0 53 1.0 intronic rs11399718 GPR107 AU NM_001136558 exon7 c.32487-45insT 0.997404 1 0.995288 0.9988 1 Uncertain 9_132848764_G->A 9 132848764 132848764 G A snp 1112.77 0/1 99 113 61 52 0.46 intronic rs144052817 GPR107 AU NM_001287346 exon7 c.54+9G>A 0.00119808 0.005 0.0002 0.0017 Uncertain 9_132861672_G->T 9 132861672 132861672 G T snp 1265.77 0/1 99 106 55 51 0.48 intronic rs2286792 GPR107 AU NM_001287346 exon10 c.13034-63G>T 0.086262 0.1359 Uncertain 9_132862830_A->T 9 132862830 132862830 A T snp 1712.77 1/1 99 53 0 53 1.0 intronic rs10081664 GPR107 AU NM_001287346 exon11 c.14206-77A>T 0.989018 1 Uncertain 9_132862831_A->C 9 132862831 132862831 A C snp 1744.77 1/1 99 56 0 56 1.0 intronic rs10081665 GPR107 AU NM_001287346 exon11 c.14206-76A>C 0.989018 1 Uncertain 9_132863035_G->C 9 132863035 132863035 G C snp 787.77 0/1 99 77 45 32 0.42 intronic rs2277196 GPR107 AU NM_001287346 exon11 c.14280+54G>C 0.640176 0.8006 0.586509 Uncertain 9_132866883_T->C 9 132866883 132866883 T C snp 1077.77 1/1 81 33 0 33 1.0 intronic rs7868997 GPR107 AU NM_001287346 exon13 c.18128+54T>C 0.986022 1 Uncertain 9_132866906_C->T 9 132866906 132866906 C T snp 560.77 1/1 42 16 0 16 1.0 intronic rs887536 GPR107 AU NM_001287346 exon13 c.18128+77C>T 0.986022 1 Uncertain 9_132872686_A->G 9 132872686 132872686 A G snp 5132.77 1/1 99 196 0 196 1.0 exonic rs4837460 GPR107 AU synonymous SNV NM_001136557 exon15 c.A1344G p.L448L 0.960463 1 0.961016 0.9661 1 Uncertain 9_132889631_G->A 9 132889631 132889631 G A snp 584.77 1/1 45 15 0 15 1.0 intronic rs4836690 GPR107 AU NM_001287346 exon16 c.41060-130G>A 0.983826 1 Uncertain 9_132891113_G->A 9 132891113 132891113 G A snp 168.77 0/1 99 28 19 9 0.32 UTR3 rs2286794 GPR107 AU 0.695687 0.8284 Uncertain 9_132891115_T->C 9 132891115 132891115 T C snp 823.77 1/1 60 28 0 28 1.0 UTR3 rs7853219 GPR107 AU 0.986022 1 Uncertain 9_132897231_G->A 9 132897231 132897231 G A snp 3388.77 1/1 99 126 2 124 0.98 intronic GPR107 AU NM_001136558 exon19 c.81092-72G>A 0.580871 0.4692 Uncertain 9_132903743_G->A 9 132903743 132903743 G A snp 608.77 1/1 48 16 0 16 1.0 intergenic GPR107 AU 0.163339 0.3065 Uncertain 9_132903768_A->- 9 132903768 132903768 A - indel 109.73 0/1 99 31 10 21 0.68 intergenic rs782566427 GPR107 AU 0.3739 0 Uncertain 9_132904086_G->A 9 132904086 132904086 G A snp 3219.84 0/1 99 250 127 123 0.49 intergenic rs370723395 GPR107 AU 0.000399361 0.002 7.072e-05 0 0 D 1 N -0.953 T Uncertain 9_132904268_G->A 9 132904268 132904268 G A snp 6490.77 1/1 99 229 0 229 1.0 intergenic GPR107 AU 0.137979 0.3056 0.1289 0.3093 Uncertain 9_132904345_G->A 9 132904345 132904345 G A snp 2680.77 1/1 99 86 0 86 1.0 intergenic GPR107 AU 0.172923 0.3075 0.1624 0.3016 0 D 0.0 P -1.000 T Uncertain 9_132904442_G->A 9 132904442 132904442 G A snp 174.9 1/1 15 6 0 6 1.0 intergenic GPR107 AU 0.177117 0.3065 Uncertain 9_132962717_A->G 9 132962717 132962717 A G snp 141.03 1/1 12 4 0 4 1.0 intronic NCS1 AU NM_014286 exon2 c.28294-519A>G 0.872604 0.9573 Uncertain 9_132962801_A->T 9 132962801 132962801 A T snp 2890.77 1/1 99 98 0 98 1.0 intronic NCS1 AU NM_014286 exon2 c.28294-435A>T 0.826877 0.9583 Uncertain 9_132962816_T->C 9 132962816 132962816 T C snp 3538.77 1/1 99 119 0 119 1.0 intronic NCS1 AU NM_014286 exon2 c.28294-420T>C 0.828874 0.9583 Uncertain 9_132963115_T->G 9 132963115 132963115 T G snp 1236.77 1/1 93 38 0 38 1.0 intronic NCS1 AU NM_001128826 exon2 c.356-121T>G 0.872804 0.9573 Uncertain 9_132963129_G->A 9 132963129 132963129 G A snp 1405.77 1/1 99 46 0 46 1.0 intronic NCS1 AU NM_001128826 exon2 c.356-107G>A 0.939896 1 Uncertain 9_132963350_T->C 9 132963350 132963350 T C snp 1144.77 1/1 84 38 0 38 1.0 intronic NCS1 AU NM_001128826 exon2 c.381+89T>C 0.939696 1 0.925975 Uncertain 9_132980035_G->A 9 132980035 132980035 G A snp 427.77 1/1 33 11 0 11 1.0 intronic NCS1 AU NM_001128826 exon3 c.17230-75G>A 0.594249 0.873 Uncertain 9_132981913_C->A 9 132981913 132981913 C A snp 601.77 0/1 99 74 45 29 0.39 intronic NCS1 AU NM_001128826 exon4 c.19123-90C>A Uncertain 9_132985111_T->C 9 132985111 132985111 T C snp 786.77 1/1 60 21 0 21 1.0 intronic NCS1 AU NM_001128826 exon5 c.22137+94T>C 0.632788 0.8601 Uncertain 9_132985259_C->- 9 132985259 132985259 C - indel 714.73 1/1 65 22 0 22 1.0 intronic NCS1 AU NM_001128826 exon6 c.22480-101delC 0.577276 0.8532 Uncertain 9_132985262_C->G 9 132985262 132985262 C G snp 839.77 1/1 63 24 0 24 1.0 intronic NCS1 AU NM_001128826 exon6 c.22480-98C>G 0.582867 0.8611 Uncertain 9_133028155_G->A 9 133028155 133028155 G A snp 1271.77 1/1 93 35 0 35 1.0 upstream HMCN2 AU 0.553714 0.8899 Uncertain 9_133028196_G->A 9 133028196 133028196 G A snp 2992.77 1/1 99 100 0 100 1.0 exonic HMCN2 AU unknown 0.53135 0.8899 Uncertain 9_133028205_GGCAGT->- 9 133028205 133028210 GGCAGT - indel 8574.73 1/1 99 106 0 106 1.0 exonic HMCN2 AU unknown 0.561901 0.8899 Uncertain 9_133028476_-->C 9 133028476 133028476 - C indel 1495.73 1/1 99 48 0 48 1.0 intronic rs371204621 HMCN2 AU NM_001291815 exon1 c.259+60insC Uncertain 9_133047755_C->G 9 133047755 133047755 C G snp 54.74 1/1 6 2 0 2 1.0 intronic HMCN2 AU NM_001291815 exon3 c.19438+160C>G 0.838858 0.8929 Uncertain 9_133048501_G->A 9 133048501 133048501 G A snp 1948.77 1/1 99 68 0 68 1.0 exonic HMCN2 AU unknown 0.715655 0.8611 0.5933 0.8649 0 D -1.046 T Uncertain 9_133057105_C->T 9 133057105 133057105 C T snp 954.77 0/1 99 97 55 42 0.43 intronic HMCN2 AU NM_001291815 exon5 c.28976-28C>T 0.252396 0.4812 0.3389 0.4898 Uncertain 9_133058082_G->A 9 133058082 133058082 G A snp 4301.77 1/1 99 150 0 150 1.0 intronic HMCN2 AU NM_001291815 exon6 c.29894+31G>A 0.791334 0.9623 0.7030 0.9688 Uncertain 9_133058181_G->A 9 133058181 133058181 G A snp 619.77 0/1 99 37 17 20 0.54 intronic HMCN2 AU NM_001291815 exon6 c.29894+130G>A 0.25599 0.4812 Uncertain 9_133058197_C->A 9 133058197 133058197 C A snp 882.77 1/1 66 23 0 23 1.0 intronic HMCN2 AU NM_001291815 exon6 c.29894+146C>A 0.803914 0.9623 Uncertain 9_133058265_C->G 9 133058265 133058265 C G snp 93.28 1/1 9 3 0 3 1.0 intronic HMCN2 AU NM_001291815 exon6 c.29894+214C>G 0.70028 0.8452 Uncertain 9_133058892_G->A 9 133058892 133058892 G A snp 1672.77 0/1 99 101 39 62 0.61 intronic HMCN2 AU NM_001291815 exon7 c.30795-60G>A 0.250799 0.4812 Uncertain 9_133069946_A->C 9 133069946 133069946 A C snp 155.77 0/1 99 13 6 7 0.54 intronic HMCN2 AU NM_001291815 exon14 c.41688+101A>C 0.532348 0.4137 Uncertain 9_133226785_G->A 9 133226785 133226785 G A snp 1411.77 0/1 99 116 59 57 0.49 intronic rs74323913 HMCN2 AU NM_001291815 exon19 c.198652-24G>A 0.122604 0.3155 0.1047 0.3299 Uncertain 9_133234555_A->G 9 133234555 133234555 A G snp 133.03 1/1 12 4 0 4 1.0 intronic rs2027064 HMCN2 AU NM_001291815 exon26 c.206548-150A>G 0.881789 0.9772 Uncertain 9_133259700_T->C 9 133259700 133259700 T C snp 96.28 1/1 9 3 0 3 1.0 intronic rs6597635 HMCN2 AU NM_001291815 exon47 c.231602-59T>C 0.85603 0.9712 Uncertain 9_133260316_T->G 9 133260316 133260316 T G snp 1535.77 1/1 99 46 0 46 1.0 intronic rs7858563 HMCN2 AU NM_001291815 exon48 c.232028+131T>G 0.736821 0.8849 Uncertain 9_133260353_G->A 9 133260353 133260353 G A snp 680.77 1/1 51 21 0 21 1.0 intronic rs11244109 HMCN2 AU NM_001291815 exon48 c.232028+168G>A 0.855831 0.9702 Uncertain 9_133263923_T->C 9 133263923 133263923 T C snp 6459.77 1/1 99 224 0 224 1.0 exonic rs7849839 HMCN2 AU unknown 0.907348 0.9712 Uncertain 9_133264060_C->- 9 133264060 133264060 C - indel 1032.73 1/1 45 46 3 43 0.93 intronic rs35750041 HMCN2 AU NM_001291815 exon51 c.235770+133delC 0.804113 0.9464 Uncertain 9_133270740_T->C 9 133270740 133270740 T C snp 1645.77 1/1 99 62 0 62 1.0 splicing rs6597641 HMCN2 AU NM_001291815 exon60 c.242577+6T>C 1 1 0.9999 1 Pathogenic 9_133274265_A->C 9 133274265 133274265 A C snp 232.77 0/1 94 10 3 7 0.7 intronic rs4573325 HMCN2 AU NM_001291815 exon64 c.245937+171A>C 0.335863 0.372 Uncertain 9_133286172_C->T 9 133286172 133286172 C T snp 130.03 1/1 12 4 0 4 1.0 intronic rs7861815 HMCN2 AU NM_001291815 exon74 c.257882+133C>T 0.273163 0.3532 Uncertain 9_133294244_G->A 9 133294244 133294244 G A snp 1284.77 0/1 99 141 85 56 0.4 exonic rs13294886 HMCN2 AU unknown 0.34984 0.3601 0.4521 0.375 Uncertain 9_133301275_G->A 9 133301275 133301275 G A snp 792.77 0/1 99 65 37 28 0.43 exonic rs553201041 HMCN2 AU unknown 0.000399361 0.002 0.0001 0.0043 0.74 T 0.997 N -1.072 T Uncertain 9_133307004_G->A 9 133307004 133307004 G A snp 578.77 0/1 99 38 15 23 0.61 intronic rs11244312 HMCN2 AU NM_001291815 exon85 c.278716+131G>A 0.405551 0.379 Uncertain 9_133308780_C->T 9 133308780 133308780 C T snp 678.77 0/1 99 51 22 29 0.57 exonic rs1006615 HMCN2 AU unknown 0.345447 0.3413 0.4143 0.4125 CLINSIG=untested;CLNDBN=Malignant_melanoma;CLNREVSTAT=no_assertion_provided;CLNACC=RCV000068558.1;CLNDSDB=MedGen:SNOMED_CT;CLNDSDBID=C0025202:2092003 ID=COSM4163425;OCCURENCE=2(thyroid) Uncertain 9_133324400_A->G 9 133324400 133324400 A G snp 1084.77 0/1 99 105 56 49 0.47 intronic rs11243372 ASS1 AR 0.462859 0.5595 Uncertain 9_133324502_A->G 9 133324502 133324502 A G snp 255.77 0/1 99 14 6 8 0.57 intronic rs10123082 ASS1 AR 0.864018 0.8998 Uncertain 9_133325472_T->C 9 133325472 133325472 T C snp 311.77 0/1 99 16 5 11 0.69 intronic rs4740158 ASS1 AR 0.799521 0.8988 Uncertain 9_133327439_T->C 9 133327439 133327439 T C snp 1177.77 1/1 84 43 0 43 1.0 intronic rs1760275 ASS1 AR 0.948682 1 0.9635 1 Uncertain 9_133327835_G->A 9 133327835 133327835 G A snp 4620.77 1/1 99 147 0 147 1.0 intronic rs1615006 ASS1 AR NM_054012 exon2 c.105+115G>A 0.579473 0.6716 Uncertain 9_133346920_A->G 9 133346920 133346920 A G snp 4184.77 1/1 99 158 1 157 0.99 intronic rs652313 ASS1 AR NM_054012 exon8 c.19287+18A>G 0.792332 0.9603 0.765108 0.8500 0.9701 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000078022.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 9_133346983_A->G 9 133346983 133346983 A G snp 2568.77 1/1 99 93 0 93 1.0 intronic rs641510 ASS1 AR NM_054012 exon8 c.19287+81A>G 0.92512 1 0.922908 Uncertain 9_133347080_G->A 9 133347080 133347080 G A snp 209.84 1/1 18 10 0 10 1.0 intronic rs486889 ASS1 AR NM_054012 exon8 c.19287+178G>A 0.606629 0.9583 Uncertain 9_133355371_G->T 9 133355371 133355371 G T snp 512.77 0/1 99 31 15 16 0.52 intronic rs540140 ASS1 AR NM_054012 exon10 c.27572+184G>T 0.209864 0.1419 Uncertain 9_133355874_A->G 9 133355874 133355874 A G snp 708.77 1/1 54 18 0 18 1.0 intronic rs1215940 ASS1 AR NM_054012 exon11 c.28221+38A>G 0.888744 0.9682 1 Uncertain 9_133376153_A->G 9 133376153 133376153 A G snp 412.77 0/1 99 25 12 13 0.52 intronic rs2282219 ASS1 AR NM_054012 exon15 c.48747-209A>G 0.147165 0.1409 Uncertain 9_133376219_A->G 9 133376219 133376219 A G snp 1241.77 0/1 99 109 59 50 0.46 intronic rs185885484 ASS1 AR NM_054012 exon15 c.48747-143A>G 0.00179712 0.0089 Uncertain 9_133472120_G->C 9 133472120 133472120 G C snp 1003.77 0/1 99 94 51 43 0.46 intronic rs74743353 FUBP3 AU NM_003934 exon2 c.15908+1145G>C 0.18111 0.2143 Uncertain 9_133488447_G->A 9 133488447 133488447 G A snp 623.77 0/1 99 44 22 22 0.5 intronic rs2304812 FUBP3 AU NM_003934 exon5 c.33347+33G>A 0.419529 0.3294 0.364132 0.3095 0.3458 Uncertain 9_133488494_G->A 9 133488494 133488494 G A snp 209.77 0/1 99 16 9 7 0.44 intronic rs11243976 FUBP3 AU NM_003934 exon5 c.33347+80G>A 0.119409 0.1607 Uncertain 9_133510021_T->C 9 133510021 133510021 T C snp 395.77 0/1 99 22 7 15 0.68 intronic rs2304808 FUBP3 AU NM_003934 exon17 c.54986-32T>C 0.418331 0.3363 0.358575 0.3207 0.3741 Uncertain 9_133553993_C->T 9 133553993 133553993 C T snp 1221.77 0/1 99 116 58 58 0.5 exonic rs7021384 PRDM12 AR synonymous SNV NM_021619 exon4 c.C648T p.P216P 0.377995 0.4722 0.328694 0.3546 0.4777 ID=COSM4007072;OCCURENCE=1(urinary_tract) Uncertain 9_133554065_A->G 9 133554065 133554065 A G snp 1150.77 0/1 99 102 50 52 0.51 intronic rs7030674 PRDM12 AR NM_021619 exon4 c.13987+38A>G 0.427915 0.4782 0.365139 0.3598 0.4771 Uncertain 9_133554189_C->T 9 133554189 133554189 C T snp 344.78 1/1 27 9 0 9 1.0 intronic rs7024667 PRDM12 AR NM_021619 exon4 c.13987+162C>T 0.323682 0.5635 Uncertain 9_133556930_C->T 9 133556930 133556930 C T snp 757.77 1/1 57 20 0 20 1.0 exonic rs12004652 PRDM12 AR synonymous SNV NM_021619 exon5 c.C978T p.P326P 0.343051 0.5367 0.163885 0.3497 0.5765 Uncertain 9_133710072_G->C 9 133710072 133710072 G C snp 296.77 0/1 99 17 6 11 0.65 intronic rs3134875 ABL1 AU NM_007313 exon2 c.139744-19378G>C 0.150958 0.0794 Uncertain 9_133710246_A->T 9 133710246 133710246 A T snp 1864.77 0/1 99 174 93 81 0.47 intronic rs2987902 ABL1 AU NM_007313 exon2 c.139744-19204A>T 0.204872 0.0942 0.1334 0.0227 Uncertain 9_133710722_-->C 9 133710722 133710722 - C indel 259.77 1/1 21 7 0 7 1.0 UTR5 rs11433465 ABL1 AU 1 1 0 . Uncertain 9_133710740_-->C 9 133710740 133710740 - C indel 612.73 1/1 48 16 0 16 1.0 UTR5 rs11433464 ABL1 AU 0.998203 1 0.9485 . Uncertain 9_133710804_T->C 9 133710804 133710804 T C snp 1175.77 1/1 84 45 0 45 1.0 UTR5 rs7866590 ABL1 AU 0.996805 1 0.991908 0.9928 1 0.79 T 0.000 P -0.991 T Uncertain 9_133710819_-->C 9 133710819 133710819 - C indel 2415.73 1/1 99 54 0 54 1.0 UTR5 rs11433463 ABL1 AU 1 1 0.999415 1.0000 1 Uncertain 9_133747302_G->A 9 133747302 133747302 G A snp 446.77 0/1 99 23 10 13 0.57 intronic rs7033381 ABL1 AU NM_007313 exon5 c.157809-213G>A 0.0229633 0.0129 Uncertain 9_133747734_C->T 9 133747734 133747734 C T snp 67.77 0/1 30 4 1 3 0.75 intronic rs4740376 ABL1 AU NM_007313 exon5 c.157894+134C>T 0.0790735 0.0764 Uncertain 9_133748083_A->G 9 133748083 133748083 A G snp 83.77 0/1 30 4 1 3 0.75 intronic rs2070997 ABL1 AU NM_007313 exon6 c.158540-163A>G 0.13139 0.0754 Uncertain 9_133755754_T->C 9 133755754 133755754 T C snp 37.77 0/1 66 8 6 2 0.25 intronic rs12005009 ABL1 AU NM_007313 exon10 c.166180-132T>C 0.353834 0.0794 Uncertain 9_133761001_A->G 9 133761001 133761001 A G snp 6169.77 1/1 99 216 1 215 1.0 exonic rs1056171 ABL1 AU synonymous SNV NM_005157 exon11 c.A3324G p.P1108P 0.654153 0.5952 0.584884 0.5490 0.5973 Uncertain 9_133769169_G->A 9 133769169 133769169 G A snp 1309.77 0/1 99 127 74 53 0.42 exonic rs3847193 QRFP AU synonymous SNV NM_198180 exon1 c.C57T p.F19F 0.356629 0.0714 0.394356 0.2836 0.0533 Uncertain 9_133779448_A->G 9 133779448 133779448 A G snp 1905.77 0/1 99 193 110 83 0.43 UTR3 rs11792889 FIBCD1 AU 0.244808 0.1865 0.246497 0.2640 0.2170 0.15 T 0.000 P -1.006 T Uncertain 9_133779730_G->A 9 133779730 133779730 G A snp 292.77 0/1 99 42 31 11 0.26 intronic rs12552821 FIBCD1 AU NM_032843 exon1 c.260+20G>A 0.235823 0.3502 0.170332 0.2352 0.3428 Uncertain 9_133779756_A->G 9 133779756 133779756 A G snp 158.77 0/1 99 28 21 7 0.25 intronic rs11244186 FIBCD1 AU NM_032843 exon1 c.260+46A>G 0.273962 0.3512 0.210364 0.2476 0.3444 Uncertain 9_133787225_A->G 9 133787225 133787225 A G snp 711.77 0/1 99 72 43 29 0.4 exonic rs6597650 FIBCD1 AU synonymous SNV NM_032843 exon5 c.T900C p.D300D 0.601038 0.6121 0.526927 0.5211 0.6368 1.000 P -1.018 T Likely benign 9_133884820_T->G 9 133884820 133884820 T G snp 4750.77 1/1 99 167 0 167 1.0 exonic rs3739512 LAMC3 AR nonsynonymous SNV NM_006059 exon1 c.T219G p.H73Q 0.65595 0.8611 0.565948 0.5188 0.8858 0.47 T 0.000 P -0.960 T 0.0 T 0.0 T ID=COSM3750158;OCCURENCE=7(large_intestine) Pathogenic 9_133911598_A->G 9 133911598 133911598 A G snp 1207.77 0/1 99 133 80 53 0.4 exonic rs2275132 LAMC3 AR synonymous SNV NM_006059 exon4 c.A855G p.A285A 0.848243 0.8343 0.871174 0.8060 0.8124 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000117481.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 ID=COSM4163429;OCCURENCE=1(thyroid) Uncertain 9_133911706_C->T 9 133911706 133911706 C T snp 1337.77 0/1 99 157 93 64 0.41 exonic rs2275131 LAMC3 AR synonymous SNV NM_006059 exon4 c.C963T p.A321A 0.398363 0.6647 0.396682 0.4558 0.6522 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000117484.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 9_133911821_C->T 9 133911821 133911821 C T snp 393.77 0/1 99 32 15 17 0.53 intronic rs2275130 LAMC3 AR NM_006059 exon4 c.27118+102C>T 0.493211 0.7073 Uncertain 9_133914815_T->A 9 133914815 133914815 T A snp 111.77 0/1 93 7 3 4 0.57 intronic rs2293519 LAMC3 AR NM_006059 exon6 c.30034+180T>A 0.482827 0.4177 Uncertain 9_133921251_C->G 9 133921251 133921251 C G snp 191.77 0/1 99 9 3 6 0.67 intronic rs2277154 LAMC3 AR NM_006059 exon8 c.36446+204C>G 0.161142 0.1478 Uncertain 9_133924451_C->T 9 133924451 133924451 C T snp 843.77 0/1 99 82 44 38 0.46 exonic rs869457 LAMC3 AR nonsynonymous SNV NM_006059 exon9 c.C1564T p.P522S 0.258586 0.246 0.273113 0.2840 0.2812 0.92 T 0.0 P -1.014 T 0.243 T 0.074 T CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000117458.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 ID=COSM3763678;OCCURENCE=1(large_intestine) Pathogenic 9_133927878_A->G 9 133927878 133927878 A G snp 1163.77 0/1 99 111 55 56 0.5 exonic rs10901333 LAMC3 AR nonsynonymous SNV NM_006059 exon10 c.A1631G p.E544G 0.471246 0.4325 0.495002 0.4592 0.4514 0.848 P -0.926 T 0.022 T 0.071 T CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000117459.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 ID=COSM3763679;OCCURENCE=1(large_intestine) Pathogenic 9_133928345_C->T 9 133928345 133928345 C T snp 1239.77 0/1 99 111 55 56 0.5 exonic rs12349966 LAMC3 AR synonymous SNV NM_006059 exon11 c.C1932T p.S644S 0.479832 0.4226 0.490996 0.4496 0.4476 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000117461.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 ID=COSM3763680;OCCURENCE=1(kidney),1(large_intestine) Uncertain 9_133932240_A->C 9 133932240 133932240 A C snp 62.77 0/1 91 9 6 3 0.33 intronic rs10901335 LAMC3 AR NM_006059 exon12 c.47714-75A>C 0.464657 0.4286 Uncertain 9_133936381_G->A 9 133936381 133936381 G A snp 1097.77 0/1 99 111 61 50 0.45 intronic rs3824398 LAMC3 AR NM_006059 exon13 c.51820-40G>A 0.540935 0.4752 0.611871 0.6482 0.4955 Uncertain 9_133936571_C->G 9 133936571 133936571 C G snp 2176.77 0/1 99 152 61 91 0.6 exonic rs3739510 LAMC3 AR nonsynonymous SNV NM_006059 exon13 c.C2308G p.R770G 0.786741 0.5536 0.865118 0.8073 0.5794 0.5 T 0.000 P -1.001 T 0.0 T 0.003 T CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000117463.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 ID=COSM3763681;OCCURENCE=2(large_intestine) Pathogenic 9_133942624_A->G 9 133942624 133942624 A G snp 776.77 0/1 99 47 16 31 0.66 intronic rs3765569 LAMC3 AR NM_006059 exon14 c.57991+32A>G 0.687899 0.631 0.758804 0.7885 0.6414 Uncertain 9_133942660_G->A 9 133942660 133942660 G A snp 226.77 0/1 99 12 5 7 0.58 intronic rs3765568 LAMC3 AR NM_006059 exon14 c.57991+68G>A 0.690495 0.63 Uncertain 9_133948049_A->G 9 133948049 133948049 A G snp 63.77 0/1 92 11 8 3 0.27 exonic rs2275140 LAMC3 AR nonsynonymous SNV NM_006059 exon19 c.A3244G p.S1082G 0.699081 0.6419 0.767569 0.7931 0.6455 0.52 T 0.0 P -1.027 T 0.0 T 0.001 T CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000117467.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 9_133948375_T->C 9 133948375 133948375 T C snp 81.77 0/1 99 19 15 4 0.21 intronic rs1572344 LAMC3 AR NM_006059 exon19 c.63621+153T>C 0.815495 0.6478 Uncertain 9_133948485_G->A 9 133948485 133948485 G A snp 434.77 0/1 99 34 16 18 0.53 intronic rs80273722 LAMC3 AR NM_006059 exon20 c.64030-146G>A 0.019369 0.0754 Uncertain 9_133960768_C->T 9 133960768 133960768 C T snp 125.78 0/1 25 5 1 4 0.8 intronic rs7045991 LAMC3 AR NM_006059 exon25 c.76309-142C>T 0.484026 0.4365 Uncertain 9_133960773_T->C 9 133960773 133960773 T C snp 83.77 0/1 67 6 2 4 0.67 intronic rs36035484 LAMC3 AR NM_006059 exon25 c.76309-137T>C 0.484026 0.4365 Uncertain 9_133960777_C->T 9 133960777 133960777 C T snp 153.77 0/1 63 7 2 5 0.71 intronic rs7045998 LAMC3 AR NM_006059 exon25 c.76309-133C>T 0.484026 0.4365 Uncertain 9_133963101_A->G 9 133963101 133963101 A G snp 3022.77 0/1 99 247 117 130 0.53 splicing rs4740413 LAMC3 AR NM_006059 exon27 c.78503-3A>G 0.371206 0.3224 0.377057 0.4080 0.3329 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000117474.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 9_133963217_T->C 9 133963217 133963217 T C snp 1972.77 0/1 99 129 57 72 0.56 intronic rs2275143 LAMC3 AR NM_006059 exon27 c.78603+13T>C 0.193091 0.2093 0.164078 0.1715 0.2131 Uncertain 9_133967240_T->C 9 133967240 133967240 T C snp 1658.77 0/1 99 160 88 72 0.45 UTR3 rs818056 LAMC3 AR 0.389577 0.3611 0.3152 0.3788 Uncertain 9_133967295_C->A 9 133967295 133967295 C A snp 882.77 0/1 99 57 23 34 0.6 UTR3 rs710074 LAMC3 AR 0.605831 0.6379 Uncertain 9_133967310_-->CA 9 133967310 133967310 - CA indel 977.73 0/1 99 41 15 26 0.63 UTR3 rs10696088 LAMC3 AR 0.596645 0.6329 Uncertain 9_133972131_G->T 9 133972131 133972131 G T snp 1154.77 0/1 99 116 62 54 0.47 intronic rs2478784 AIF1L AU NM_001185095 exon2 c.172-57G>T 0.195687 0.3661 0.2089 0.3580 Uncertain 9_133972147_A->G 9 133972147 133972147 A G snp 1351.77 0/1 99 125 60 65 0.52 intronic rs117413897 AIF1L AU NM_001185095 exon2 c.172-41A>G 0.0299521 0.0903 0.004438 0.0297 0.1068 Uncertain 9_133981629_T->C 9 133981629 133981629 T C snp 543.77 0/1 99 61 34 27 0.44 exonic rs2315075 AIF1L AU nonsynonymous SNV NM_001185095 exon3 c.T148C p.C50R 0.260583 0.3323 0.1730 0.3107 0.37 T 0.0 P -0.980 T 0.0 T 0.0 T Pathogenic 9_133981721_T->C 9 133981721 133981721 T C snp 709.77 0/1 99 63 29 34 0.54 intronic rs2315076 AIF1L AU NM_001185095 exon3 c.9636+69T>C 0.277756 0.3333 Uncertain 9_133986836_C->T 9 133986836 133986836 C T snp 307.78 1/1 24 9 0 9 1.0 intronic rs353528 AIF1L AU NM_001185095 exon4 c.14967-147C>T Uncertain 9_133986848_G->A 9 133986848 133986848 G A snp 144.77 0/1 99 14 9 5 0.36 intronic rs353527 AIF1L AU NM_001185095 exon4 c.14967-135G>A 0.690296 0.6687 Uncertain 9_133986980_T->G 9 133986980 133986980 T G snp 3457.77 1/1 99 127 0 127 1.0 splicing rs353526 AIF1L AU NM_001185095 exon4 c.14967-3T>G 0.9998 1 1.0000 1 Pathogenic 9_133987060_G->A 9 133987060 133987060 G A snp 2761.77 1/1 99 102 0 102 1.0 intronic rs353525 AIF1L AU NM_001185095 exon4 c.15034+10G>A 0.970847 1 0.965631 0.9905 1 Uncertain 9_133996439_C->T 9 133996439 133996439 C T snp 545.77 0/1 99 40 19 21 0.53 UTR3 rs2281906 AIF1L AU 0.300919 0.373 Uncertain 9_133996460_T->G 9 133996460 133996460 T G snp 750.77 0/1 99 50 22 28 0.56 UTR3 rs353511 AIF1L AU 0.628994 0.624 0.6948 0.6518 Uncertain 9_133996460_-->G 9 133996460 133996460 - G indel 923.73 1/1 94 50 2 48 0.96 UTR3 rs111758824 AIF1L AU 0.339657 0.374 0.2985 0.3482 Uncertain 9_133996503_T->A 9 133996503 133996503 T A snp 1302.77 0/1 99 94 37 57 0.61 UTR3 rs353510 AIF1L AU 0.645367 0.629 0.7174 0.6559 Uncertain 9_134003900_A->G 9 134003900 134003900 A G snp 1000.77 0/1 99 79 37 42 0.53 intronic rs967174 NUP214 AU NM_005085 exon3 c.2779+30A>G 0.282548 0.3889 0.241350 0.2519 0.4017 Uncertain 9_134004912_A->C 9 134004912 134004912 A C snp 329.77 0/1 99 34 19 15 0.44 intronic rs3736957 NUP214 AU NM_005085 exon4 c.3773+48A>C 0.295128 0.4206 0.246117 0.2544 0.4322 Uncertain 9_134010236_T->C 9 134010236 134010236 T C snp 627.77 0/1 99 50 25 25 0.5 intronic rs16922 NUP214 AU NM_005085 exon8 c.9193-48T>C 0.311102 0.4187 0.264918 0.2590 0.4264 Uncertain 9_134015781_A->G 9 134015781 134015781 A G snp 180.77 0/1 99 14 6 8 0.57 intronic rs2281903 NUP214 AU NM_005085 exon11 c.14844-154A>G 0.313898 0.4206 Uncertain 9_134015899_C->G 9 134015899 134015899 C G snp 1144.77 0/1 99 88 37 51 0.58 intronic rs2281902 NUP214 AU NM_005085 exon11 c.14844-36C>G 0.311102 0.4206 0.266769 0.2646 0.4341 Uncertain 9_134016121_C->T 9 134016121 134016121 C T snp 669.77 0/1 99 67 39 28 0.42 intronic rs2281901 NUP214 AU NM_005085 exon11 c.15006+24C>T 0.131989 0.2242 0.133861 0.1577 0.2403 Uncertain 9_134020092_C->T 9 134020092 134020092 C T snp 1597.77 0/1 99 168 97 71 0.42 exonic rs103612 NUP214 AU nonsynonymous SNV NM_005085 exon12 c.C1720T p.P574S 0.641973 0.627 0.668691 0.6641 0.6226 0.57 T 0.218 P -0.996 T 0.013 T 0.007 T Pathogenic 9_134021630_A->G 9 134021630 134021630 A G snp 1448.77 0/1 99 132 71 61 0.46 exonic rs2296710 NUP214 AU synonymous SNV NM_005085 exon13 c.A1884G p.T628T 0.346446 0.4276 0.302168 0.3309 0.4307 Uncertain 9_134025595_A->G 9 134025595 134025595 A G snp 319.77 0/1 99 41 27 14 0.34 intronic rs11244305 NUP214 AU NM_005085 exon15 c.24619-115A>G 0.162141 0.2262 Uncertain 9_134064345_T->C 9 134064345 134064345 T C snp 526.77 0/1 99 27 9 18 0.67 intronic rs2274427 NUP214 AU NM_005085 exon26 c.63348-94T>C 0.622604 0.5734 Uncertain 9_134067795_G->A 9 134067795 134067795 G A snp 438.77 1/1 33 12 0 12 1.0 intronic rs4602942 NUP214 AU NM_005085 exon27 c.66588+116G>A 0.97504 1 Uncertain 9_134067825_A->G 9 134067825 134067825 A G snp 262.8 1/1 21 7 0 7 1.0 intronic rs2031700 NUP214 AU NM_005085 exon27 c.66588+146A>G 0.97504 1 Uncertain 9_134076950_-->A 9 134076950 134076950 - A indel 215.73 0/1 45 16 4 12 0.75 intronic rs397808179 NUP214 AU NM_005085 exon30 c.75942-83insA 0.545927 0.5288 Uncertain 9_134103759_G->A 9 134103759 134103759 G A snp 906.77 0/1 99 47 16 31 0.66 intronic rs11244329 NUP214 AU NM_005085 exon33 c.102627+41G>A 0.160543 0.2272 0.166615 0.2069 0.2443 Uncertain 9_134105939_A->G 9 134105939 134105939 A G snp 1422.77 1/1 99 37 0 37 1.0 intronic rs352963 NUP214 AU NM_005085 exon34 c.104925-77A>G 0.96885 1 Uncertain 9_134136515_A->G 9 134136515 134136515 A G snp 7742.77 1/1 99 250 0 250 1.0 exonic rs352952 FAM78A AU synonymous SNV NM_033387 exon2 c.T546C p.N182N 0.91873 0.9752 0.928725 0.9721 0.9622 Uncertain 9_134136677_A->G 9 134136677 134136677 A G snp 6488.77 1/1 99 237 0 237 1.0 exonic rs352951 FAM78A AU synonymous SNV NM_033387 exon2 c.T384C p.D128D 0.919728 0.9742 0.931878 0.9732 0.9621 Uncertain 9_134140113_C->T 9 134140113 134140113 C T snp 424.77 1/1 33 13 0 13 1.0 intronic rs7859822 FAM78A AU NM_033387 exon1 c.529+3376C>T Uncertain 9_134165368_G->C 9 134165368 134165368 G C snp 895.77 0/1 99 97 57 40 0.41 UTR5 rs7029366 PPAPDC3 AU 0.363219 0.505 0.301630 0.4549 0.5687 Uncertain 9_134165888_T->C 9 134165888 134165888 T C snp 980.77 1/1 72 31 0 31 1.0 intronic rs11244356 PPAPDC3 AU NM_032728 exon1 c.451+53T>C 0.717851 0.7798 Uncertain 9_134165899_A->G 9 134165899 134165899 A G snp 376.77 0/1 99 26 11 15 0.58 intronic rs11244357 PPAPDC3 AU NM_032728 exon1 c.451+64A>G 0.44988 0.503 Uncertain 9_134183379_C->T 9 134183379 134183379 C T snp 2318.77 0/1 99 222 114 108 0.49 exonic rs2966332 PPAPDC3 AU nonsynonymous SNV NM_032728 exon2 c.C521T p.T174M 0.623403 0.7252 0.655928 0.6985 0.6980 0.27 T 1.0 P -0.923 T 0.001 T 0.002 T ID=COSM3750159;OCCURENCE=4(large_intestine) Pathogenic 9_134183503_T->C 9 134183503 134183503 T C snp 2766.77 0/1 99 243 121 122 0.5 exonic rs2986606 PPAPDC3 AU synonymous SNV NM_032728 exon2 c.T645C p.R215R 0.635383 0.7312 0.667923 0.7011 0.6996 ID=COSM3763686;OCCURENCE=1(large_intestine),1(thyroid) Uncertain 9_134322324_G->A 9 134322324 134322324 G A snp 1507.77 1/1 99 42 0 42 1.0 intronic rs2966340 PRRC2B AU NM_013318 exon7 c.16940-147G>A 0.802915 0.9395 Uncertain 9_134323240_A->C 9 134323240 134323240 A C snp 926.77 1/1 69 27 0 27 1.0 intronic rs2994064 PRRC2B AU NM_013318 exon8 c.17660+49A>C 0.982827 1 0.978548 0.9936 1 Uncertain 9_134346315_T->C 9 134346315 134346315 T C snp 5672.77 1/1 99 215 0 215 1.0 exonic rs4310250 PRRC2B AU synonymous SNV NM_013318 exon13 c.T2052C p.R684R 0.858826 0.9196 0.881439 0.9087 0.9249 ID=COSM4163437,COSM4163438;OCCURENCE=1(thyroid) Uncertain 9_134348807_G->A 9 134348807 134348807 G A snp 1191.77 1/1 87 40 0 40 1.0 intronic rs4276727 PRRC2B AU NM_013318 exon14 c.43363-87G>A 0.875998 0.9405 Uncertain 9_134348819_G->- 9 134348819 134348819 G - indel 1808.73 1/1 99 46 0 46 1.0 intronic rs5900941 PRRC2B AU NM_013318 exon14 c.43363-75delG 0.877196 0.9415 Uncertain 9_134349152_G->A 9 134349152 134349152 G A snp 372.77 1/1 30 10 0 10 1.0 intronic rs7850251 PRRC2B AU NM_013318 exon14 c.43580+41G>A 0.982827 1 0.978470 0.9941 1 Uncertain 9_134350323_C->G 9 134350323 134350323 C G snp 4235.77 1/1 99 146 0 146 1.0 exonic rs10736851 PRRC2B AU nonsynonymous SNV NM_013318 exon15 c.C2807G p.T936S 0.769569 0.9395 0.740274 0.7965 0.9325 1.0 P -1.030 T 0.051 T 0.008 T Pathogenic 9_134350458_C->T 9 134350458 134350458 C T snp 3475.77 1/1 99 126 0 126 1.0 exonic rs10751478 PRRC2B AU nonsynonymous SNV NM_013318 exon15 c.C2942T p.P981L 0.76877 0.9395 0.739959 0.7910 0.9380 0.000 P -1.018 T 0.0 T 0.0 T Pathogenic 9_134350647_T->C 9 134350647 134350647 T C snp 3602.77 1/1 99 121 0 121 1.0 exonic rs10793873 PRRC2B AU nonsynonymous SNV NM_013318 exon15 c.T3131C p.M1044T 0.98123 1 0.977387 0.9934 0.9998 1.000 P -0.946 T 0.0 T 0.0 T Pathogenic 9_134351065_G->T 9 134351065 134351065 G T snp 5299.77 1/1 99 186 0 186 1.0 exonic rs7858488 PRRC2B AU synonymous SNV NM_013318 exon15 c.G3549T p.G1183G 0.873403 0.9415 0.882526 0.9146 0.9403 Uncertain 9_134353724_C->T 9 134353724 134353724 C T snp 931.77 1/1 69 27 0 27 1.0 intronic rs4076428 PRRC2B AU NM_013318 exon17 c.48329-136C>T 0.46845 0.8145 Uncertain 9_134358657_G->C 9 134358657 134358657 G C snp 1408.77 1/1 99 52 0 52 1.0 intronic rs10901061 PRRC2B AU NM_013318 exon22 c.53214-88G>C 0.976837 1 Uncertain 9_134359918_G->C 9 134359918 134359918 G C snp 1001.77 1/1 75 30 0 30 1.0 intronic rs10751480 PRRC2B AU NM_013318 exon23 c.54541-154G>C 0.852037 0.9405 Uncertain 9_134360015_G->T 9 134360015 134360015 G T snp 2575.77 1/1 99 97 0 97 1.0 intronic rs10793874 PRRC2B AU NM_013318 exon23 c.54541-57G>T 0.852236 0.9405 Uncertain 9_134361318_C->A 9 134361318 134361318 C A snp 2582.77 1/1 99 88 0 88 1.0 intronic rs3808829 PRRC2B AU NM_013318 exon25 c.55940-153C>A 0.878195 0.9405 Uncertain 9_134361581_T->A 9 134361581 134361581 T A snp 4624.77 1/1 99 173 0 173 1.0 intronic rs10793875 PRRC2B AU NM_013318 exon25 c.56038+12T>A 0.878195 0.9405 0.888037 0.9209 0.9404 Uncertain 9_134361627_G->A 9 134361627 134361627 G A snp 2861.77 1/1 99 93 1 92 0.99 intronic rs10901062 PRRC2B AU NM_013318 exon25 c.56038+58G>A 0.852037 0.9405 Uncertain 9_134362878_T->C 9 134362878 134362878 T C snp 218.84 1/1 18 6 0 6 1.0 intronic rs3802349 PRRC2B AU NM_013318 exon26 c.57150+197T>C 0.854832 0.9405 Uncertain 9_134382556_G->A 9 134382556 134382556 G A snp 99.28 1/1 9 4 0 4 1.0 intronic rs6597500 POMT1 AR NM_007171 exon5 c.3149-198G>A 0.866414 0.9246 Uncertain 9_134382673_C->T 9 134382673 134382673 C T snp 2673.77 1/1 99 90 0 90 1.0 intronic rs6597501 POMT1 AR NM_007171 exon5 c.3149-81C>T 0.870807 0.9246 Uncertain 9_134384277_T->C 9 134384277 134384277 T C snp 4337.77 1/1 99 143 0 143 1.0 intronic rs11243404 POMT1 AR NM_007171 exon6 c.4692-20T>C 0.871006 0.9246 0.880670 0.9233 0.9156 Uncertain 9_134384500_C->T 9 134384500 134384500 C T snp 4100.77 1/1 99 136 0 136 1.0 intronic rs11999204 POMT1 AR NM_007171 exon6 c.4804+91C>T 0.870807 0.9246 Uncertain 9_134384513_A->G 9 134384513 134384513 A G snp 2919.77 1/1 99 96 0 96 1.0 intronic rs28447664 POMT1 AR NM_007171 exon6 c.4804+104A>G 0.870807 0.9246 Uncertain 9_134385436_A->G 9 134385436 134385436 A G snp 3741.77 1/1 99 120 0 120 1.0 exonic rs2296949 POMT1 AR nonsynonymous SNV NM_007171 exon8 c.A752G p.Q251R 0.870607 0.9246 0.879286 0.9230 0.9156 0.0 P -0.924 T 0.0 T 0.0 T CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000081493.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 9_134385599_A->G 9 134385599 134385599 A G snp 5270.77 1/1 99 185 0 185 1.0 intronic rs2018621 POMT1 AR NM_007171 exon9 c.6041-47A>G 0.870807 0.9246 0.880517 0.9231 0.9146 Uncertain 9_134386675_T->G 9 134386675 134386675 T G snp 1406.77 1/1 99 53 0 53 1.0 intronic rs4740163 POMT1 AR NM_007171 exon10 c.7118-48T>G 0.98123 1 0.975627 0.9931 0.9999 Uncertain 9_134386744_T->C 9 134386744 134386744 T C snp 2265.77 1/1 99 79 0 79 1.0 exonic rs10901065 POMT1 AR synonymous SNV NM_007171 exon10 c.T942C p.T314T 0.870807 0.9246 0.880517 0.9231 0.9162 0.04 T 1.000 P -0.978 T CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000153752.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Likely benign 9_134386903_G->A 9 134386903 134386903 G A snp 2055.77 1/1 99 73 0 73 1.0 intronic rs10901066 POMT1 AR NM_007171 exon10 c.7249+49G>A 0.870807 0.9246 0.880594 0.9231 0.9154 Uncertain 9_134387255_C->T 9 134387255 134387255 C T snp 299.78 1/1 24 9 0 9 1.0 intronic rs10901067 POMT1 AR NM_007171 exon11 c.7822-172C>T 0.870807 0.9246 Uncertain 9_134387315_C->G 9 134387315 134387315 C G snp 1943.77 1/1 99 61 0 61 1.0 intronic rs10901068 POMT1 AR NM_007171 exon11 c.7822-112C>G 0.870807 0.9246 Uncertain 9_134387488_T->C 9 134387488 134387488 T C snp 5011.77 1/1 99 186 0 186 1.0 exonic rs3739494 POMT1 AR synonymous SNV NM_007171 exon11 c.T1113C p.D371D 0.870807 0.9246 0.880517 0.9232 0.9157 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000153753.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 9_134388446_G->A 9 134388446 134388446 G A snp 176.9 1/1 15 5 0 5 1.0 intronic rs7865761 POMT1 AR NM_007171 exon12 c.9020-179G>A 0.870807 0.9246 Uncertain 9_134394163_A->G 9 134394163 134394163 A G snp 5972.77 1/1 99 216 0 216 1.0 intronic rs1547768 POMT1 AR NM_007171 exon15 c.14618-60A>G 0.870407 0.9246 Uncertain 9_134394646_A->G 9 134394646 134394646 A G snp 3633.77 1/1 99 117 0 117 1.0 intronic rs2010635 POMT1 AR NM_007171 exon16 c.15170-129A>G 0.889776 0.9246 Uncertain 9_134395628_C->G 9 134395628 134395628 C G snp 3729.77 1/1 99 130 0 130 1.0 intronic rs2277152 POMT1 AR NM_007171 exon17 c.15975+48C>G 0.83147 0.9246 0.841073 0.9008 0.9167 Uncertain 9_134395687_C->A 9 134395687 134395687 C A snp 1650.77 1/1 99 50 0 50 1.0 intronic rs2277153 POMT1 AR NM_007171 exon17 c.15975+107C>A 0.865615 0.9246 Uncertain 9_134397624_C->T 9 134397624 134397624 C T snp 3441.77 1/1 99 125 0 125 1.0 intronic rs4740165 POMT1 AR NM_007171 exon19 c.18006+13C>T 0.831669 0.9246 0.841688 0.8996 0.9153 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000081486.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 9_134398249_C->T 9 134398249 134398249 C T snp 56.74 1/1 6 2 0 2 1.0 intronic rs10122068 POMT1 AR NM_007171 exon20 c.18713-69C>T 0.748203 0.9236 Uncertain 9_134398534_T->C 9 134398534 134398534 T C snp 628.77 1/1 48 24 0 24 1.0 UTR3 rs3739495 POMT1 AR 0.870407 0.9266 0.878979 0.9244 0.9175 Uncertain 9_134401335_C->T 9 134401335 134401335 C T snp 2451.77 1/1 99 91 0 91 1.0 exonic rs2296957 UCK1 AU nonsynonymous SNV NM_001135954 exon5 c.G538A p.A180T 0.811901 0.9236 0.830309 0.8944 0.9127 0 D 1.0 P -1.001 T 0.104 T 0.014 T Pathogenic 9_134404199_A->G 9 134404199 134404199 A G snp 1285.77 1/1 96 37 0 37 1.0 intronic rs4740260 UCK1 AU NM_001261451 exon3 c.3904-131A>G 0.980631 1 Uncertain 9_134404784_G->C 9 134404784 134404784 G C snp 1751.77 1/1 99 52 0 52 1.0 intronic rs2296956 UCK1 AU NM_001135954 exon4 c.4315-90G>C 0.341853 0.5823 Uncertain 9_134406071_C->G 9 134406071 134406071 C G snp 1837.77 1/1 99 62 0 62 1.0 exonic rs7867616 UCK1 AU nonsynonymous SNV NM_001261451 exon2 c.G85C p.E29Q 0.86222 0.999 0.811549 0.8662 0.9998 0.000 P -1.007 T Pathogenic 9_134406131_G->T 9 134406131 134406131 G T snp 504.77 1/1 39 17 0 17 1.0 intronic rs3904960 UCK1 AU NM_001261451 exon6 c.5648+57G>T 0.761182 0.9266 Uncertain 9_134406647_A->G 9 134406647 134406647 A G snp 53.74 1/1 6 3 0 3 1.0 UTR5 rs4740261 UCK1 AU 0.9998 1 Uncertain 9_134406650_C->T 9 134406650 134406650 C T snp 59.74 1/1 6 3 0 3 1.0 UTR5 rs7041225 UCK1 AU 0.765176 0.9286 Uncertain 9_134433417_C->A 9 134433417 134433417 C A snp 187.77 0/1 99 12 6 6 0.5 intergenic rs28731115 UCK1 AU 0.204273 0.0873 Uncertain 9_134433463_T->C 9 134433463 134433463 T C snp 1654.77 1/1 99 54 0 54 1.0 intergenic rs4740167 UCK1 AU 0.704872 0.5972 Uncertain 9_134465398_T->C 9 134465398 134465398 T C snp 1644.77 1/1 99 58 0 58 1.0 intronic rs3818581 RAPGEF1 AU NM_198679 exon9 c.10480+35T>C 0.85004 0.7659 0.864282 0.8496 0.8003 Uncertain 9_134467579_A->- 9 134467579 134467579 A - indel 3715.73 1/1 99 104 0 104 1.0 intronic rs3215862 RAPGEF1 AU NM_198679 exon10 c.12687+9delA 0.785743 0.7659 0.803550 0.8330 0.8000 Uncertain 9_134473517_T->C 9 134473517 134473517 T C snp 5283.77 1/1 99 181 0 181 1.0 intronic rs2296950 RAPGEF1 AU NM_198679 exon12 c.18702-68T>C 0.34405 0.3651 Uncertain 9_134477388_G->- 9 134477388 134477388 G - indel 3611.73 1/1 99 86 0 86 1.0 intronic rs3842210 RAPGEF1 AU NM_198679 exon13 c.22564-59delG 0.60024 0.6091 Uncertain 9_134479293_A->G 9 134479293 134479293 A G snp 3107.77 1/1 99 102 0 102 1.0 intronic rs7037668 RAPGEF1 AU NM_198679 exon13 c.22653+1757A>G 0.846845 0.7679 Uncertain 9_134480273_GT->- 9 134480273 134480274 GT - indel 144.73 0/1 99 35 28 7 0.2 intronic rs72054278 RAPGEF1 AU NM_198679 exon13 c.22653+2737_22653+2738delGT 0.3720 0.3436 Uncertain 9_134497450_C->A 9 134497450 134497450 C A snp 1760.77 ./1 99 57 0 57 1.0 intronic rs7023385 RAPGEF1 AU NM_198679 exon14 c.42502+65C>A 0.470048 0.4901 Uncertain 9_134497450_C->G 9 134497450 134497450 C G snp 1760.77 ./1 99 57 0 57 1.0 intronic rs7023385 RAPGEF1 AU NM_198679 exon14 c.42502+65C>G 0.27516 0.2381 Uncertain 9_134505545_A->C 9 134505545 134505545 A C snp 62.77 0/1 91 14 10 4 0.29 intronic rs11243457 RAPGEF1 AU NM_198679 exon19 c.50739-77A>C 0.550319 0.495 Uncertain 9_134585181_C->T 9 134585181 134585181 C T snp 404.77 0/1 99 21 6 15 0.71 UTR5 rs11243480 RAPGEF1 AU 0.196685 0.2361 Uncertain 9_134613060_T->A 9 134613060 134613060 T A snp 236.84 0/1 18 8 1 7 0.88 intergenic rs11243496 RAPGEF1 AU 0.219649 0.2361 Uncertain 9_134952790_T->C 9 134952790 134952790 T C snp 133.03 1/1 12 4 0 4 1.0 intronic rs4440729 MED27 AU NM_004269 exon7 c.216904-38T>C 0.983027 1 0.976396 0.9848 1 Uncertain 9_135073309_G->A 9 135073309 135073309 G A snp 101.77 0/1 99 11 7 4 0.36 intronic rs11243663 NTNG2 AU NM_032536 exon3 c.31134-43G>A 0.386182 0.502 0.363749 0.4039 0.4565 Uncertain 9_135073315_C->G 9 135073315 135073315 C G snp 107.77 0/1 99 12 7 5 0.42 intronic rs11243664 NTNG2 AU NM_032536 exon3 c.31134-37C>G 0.398562 0.502 0.380547 0.4099 0.4597 Uncertain 9_135073877_C->T 9 135073877 135073877 C T snp 2967.77 0/1 99 250 139 111 0.44 exonic rs3824574 NTNG2 AU synonymous SNV NM_032536 exon3 c.C738T p.F246F 0.290335 0.378 0.275573 0.3178 0.3546 ID=COSM3763690,COSM3763689;OCCURENCE=1(large_intestine) Uncertain 9_135074103_G->A 9 135074103 135074103 G A snp 1612.77 0/1 99 141 79 62 0.44 intronic rs3739928 NTNG2 AU NM_032536 exon3 c.31778+107G>A 0.445687 0.498 Uncertain 9_135102254_C->T 9 135102254 135102254 C T snp 758.77 0/1 99 69 36 33 0.48 exonic rs2149171 NTNG2 AU synonymous SNV NM_032536 exon4 c.C876T p.H292H 0.57488 0.4306 0.603106 0.6184 0.4707 ID=COSM3763692,COSM3763691,COSM3763693;OCCURENCE=1(large_intestine),3(thyroid) Uncertain 9_135105811_G->C 9 135105811 135105811 G C snp 220.84 1/1 18 6 0 6 1.0 intronic rs2777465 NTNG2 AU NM_032536 exon5 c.63740-147G>C 0.830272 0.8571 Uncertain 9_135105944_G->A 9 135105944 135105944 G A snp 960.77 0/1 99 85 42 43 0.51 intronic rs2274855 NTNG2 AU NM_032536 exon5 c.63740-14G>A 0.206669 0.4137 0.131251 0.2506 0.4725 Uncertain 9_135105964_A->G 9 135105964 135105964 A G snp 3103.77 1/1 99 109 0 109 1.0 exonic rs4962173 NTNG2 AU nonsynonymous SNV NM_032536 exon5 c.A1036G p.T346A 0.998602 1 0.997000 0.9952 0.9992 1 T 0.000 P -0.936 T 0.0 T 0.0 T Pathogenic 9_135106054_T->A 9 135106054 135106054 T A snp 3487.77 1/1 99 140 0 140 1.0 intronic rs2274854 NTNG2 AU NM_032536 exon5 c.63764+72T>A 0.869209 0.8562 0.831581 Uncertain 9_135114365_G->A 9 135114365 135114365 G A snp 2602.77 0/1 99 250 136 114 0.46 intronic rs2274853 NTNG2 AU NM_032536 exon6 c.72272-125G>A 0.259984 0.3204 0.3410 0.4705 1 T 0.000 P -1.101 T Uncertain 9_135117178_T->G 9 135117178 135117178 T G snp 529.77 0/1 99 34 15 19 0.56 intronic rs12342966 NTNG2 AU NM_032536 exon8 c.75044-84T>G 0.697684 0.7143 Uncertain 9_135139826_T->C 9 135139826 135139826 T C snp 2918.77 0/1 99 211 89 122 0.58 exonic rs3739927 SETX AR,AD nonsynonymous SNV NM_015046 exon26 c.A7834G p.S2612G 0.163538 0.3591 0.072966 0.0852 0.3901 0.73 T 0.0 P -0.994 T 0.0 T 0.001 T Pathogenic 9_135139901_T->C 9 135139901 135139901 T C snp 4623.77 1/1 99 165 0 165 1.0 exonic rs1056899 SETX AR,AD nonsynonymous SNV NM_015046 exon26 c.A7759G p.I2587V 0.538738 0.6835 0.444180 0.3926 0.7330 1 T 0.0 P -0.902 T 0.0 T 0.0 T ID=COSM3763694,COSM3763695;OCCURENCE=2(thyroid),1(large_intestine) Pathogenic 9_135144723_C->T 9 135144723 135144723 C T snp 405.77 0/1 99 30 15 15 0.5 intronic rs2274562 SETX AR,AD NM_015046 exon2 c.5376-278C>T 0.244409 0.3988 Uncertain 9_135146993_A->G 9 135146993 135146993 A G snp 853.77 0/1 99 55 27 28 0.51 intronic rs7046688 SETX AR,AD NM_015046 exon3 c.7471-103A>G 0.260583 0.3988 Uncertain 9_135150461_A->C 9 135150461 135150461 A C snp 77.77 0/1 30 4 1 3 0.75 intronic rs17148869 SETX AR,AD NM_015046 exon4 c.11017-181A>C 0.250399 0.4028 Uncertain 9_135150616_T->C 9 135150616 135150616 T C snp 873.77 0/1 99 61 26 35 0.57 intronic rs2296865 SETX AR,AD NM_015046 exon4 c.11017-26T>C 0.25 0.4028 0.151338 0.1729 0.4375 Uncertain 9_135152543_-->A 9 135152543 135152543 - A indel 652.73 0/1 99 122 48 74 0.61 splicing rs201575546 SETX AR,AD NM_015046 exon5 c.12914+4insA 0.2119 0.3757 Pathogenic 9_135153668_C->T 9 135153668 135153668 C T snp 1353.77 1/1 96 49 0 49 1.0 intronic rs11243704 SETX AR,AD NM_015046 exon6 c.14019+24C>T 0.533946 0.6716 0.443103 0.3884 0.7205 Uncertain 9_135153673_T->C 9 135153673 135153673 T C snp 814.77 0/1 99 49 16 33 0.67 intronic rs11243705 SETX AR,AD NM_015046 exon6 c.14019+29T>C 0.158746 0.2758 0.127710 0.1665 0.2923 Uncertain 9_135156702_A->T 9 135156702 135156702 A T snp 44.77 0/1 33 3 1 2 0.67 intronic rs3736998 SETX AR,AD NM_015046 exon7 c.17228-151A>T 0.249002 0.4067 Uncertain 9_135158543_G->C 9 135158543 135158543 G C snp 187.77 0/1 89 12 6 6 0.5 intronic rs2296874 SETX AR,AD NM_015046 exon8 c.19025-107G>C 0.152356 0.3651 Uncertain 9_135158547_-->A 9 135158547 135158547 - A indel 100.73 0/1 99 13 6 7 0.54 intronic rs371692040 SETX AR,AD NM_015046 exon8 c.19025-103insA Uncertain 9_135158619_A->T 9 135158619 135158619 A T snp 1045.77 0/1 99 88 46 42 0.48 intronic rs2296873 SETX AR,AD NM_015046 exon8 c.19025-31A>T 0.155152 0.3651 0.059819 0.0821 0.3952 Uncertain 9_135163562_-->A 9 135163562 135163562 - A indel 668.73 0/1 99 53 25 28 0.53 intronic rs35545441 SETX AR,AD NM_015046 exon10 c.23997-60insA 0.0970447 0.2361 Uncertain 9_135164107_A->C 9 135164107 135164107 A C snp 301.77 0/1 99 18 8 10 0.56 intronic rs2274563 SETX AR,AD NM_015046 exon11 c.24413+69A>C 0.096845 0.2361 Uncertain 9_135172163_T->C 9 135172163 135172163 T C snp 709.77 1/1 54 22 0 22 1.0 intronic rs2296868 SETX AR,AD NM_015046 exon13 c.32648-110T>C 0.441893 0.6329 Uncertain 9_135172412_A->G 9 135172412 135172412 A G snp 1876.77 1/1 99 67 0 67 1.0 exonic rs2296869 SETX AR,AD synonymous SNV NM_015046 exon14 c.T5811C p.D1937D 0.441693 0.6329 0.307166 0.2880 0.7005 ID=COSM3763697,COSM3763696;OCCURENCE=1(large_intestine) Uncertain 9_135173454_-->A 9 135173454 135173454 - A indel 5321.73 1/1 99 127 0 127 1.0 intronic rs3831154 SETX AR,AD NM_015046 exon14 c.33841-12insA 0.374002 0.6329 0.226038 0.2528 0.6956 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000081699.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 9_135173685_T->C 9 135173685 135173685 T C snp 5750.77 1/1 99 206 0 206 1.0 exonic rs2296871 SETX AR,AD nonsynonymous SNV NM_015046 exon13 c.A5563G p.T1855A 0.443091 0.6379 0.306781 0.2758 0.7029 1 T 0.0 P -1.017 T 0.0 T 0.0 T ID=COSM3763699,COSM3763698;OCCURENCE=1(large_intestine) Pathogenic 9_135173758_G->T 9 135173758 135173758 G T snp 3222.65 1/1 99 105 0 105 1.0 intronic rs6597570 SETX AR,AD NM_015046 exon14 c.34074+59G>T 0.441693 0.6329 Uncertain 9_135173871_G->A 9 135173871 135173871 G A snp 58.77 0/1 87 8 5 3 0.38 intronic rs7874311 SETX AR,AD NM_015046 exon14 c.34074+172G>A 0.0964457 0.2371 Uncertain 9_135173892_T->C 9 135173892 135173892 T C snp 168.9 1/1 15 5 0 5 1.0 intronic rs6597571 SETX AR,AD NM_015046 exon14 c.34074+193T>C 0.373802 0.6329 Uncertain 9_135187128_G->A 9 135187128 135187128 G A snp 828.77 1/1 60 32 0 32 1.0 intronic rs2296872 SETX AR,AD NM_015046 exon16 c.47518-15G>A 0.3748 0.6329 0.225427 0.2789 0.7039 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000081697.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 9_135203530_A->C 9 135203530 135203530 A C snp 3099.77 0/1 99 249 119 130 0.52 exonic rs3739922 SETX AR,AD nonsynonymous SNV NM_015046 exon10 c.T3455G p.F1152C 0.0896565 0.2371 0.038444 0.0656 0.2720 0.11 T 0.0 P -1.051 T 0.01 T 0.01 T ID=COSM3763701,COSM3763700;OCCURENCE=1(large_intestine) Pathogenic 9_135203838_G->A 9 135203838 135203838 G A snp 3136.77 0/1 99 250 129 121 0.48 exonic rs3739921 SETX AR,AD synonymous SNV NM_015046 exon10 c.C3147T p.H1049H 0.114217 0.2083 0.067046 0.1072 0.2371 Uncertain 9_135205006_G->C 9 135205006 135205006 G C snp 1204.77 0/1 99 105 60 45 0.43 exonic rs882709 SETX AR,AD nonsynonymous SNV NM_015046 exon10 c.C1979G p.A660G 0.213658 0.4117 0.113811 0.1211 0.4524 0.21 T 0.0 P -1.097 T 0.728 T 0.366 P CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000081692.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 ID=COSM3763702,COSM3763703;OCCURENCE=1(large_intestine) Pathogenic 9_135205959_A->G 9 135205959 135205959 A G snp 668.77 0/1 99 69 40 29 0.42 intronic rs1011378 SETX AR,AD NM_015046 exon17 c.66261+73A>G 0.0946486 0.2371 Uncertain 9_135206028_T->C 9 135206028 135206028 T C snp 224.77 0/1 99 20 11 9 0.45 intronic rs1536662 SETX AR,AD NM_015046 exon17 c.66261+142T>C 0.0946486 0.2371 Uncertain 9_135206979_A->G 9 135206979 135206979 A G snp 40.77 0/1 69 6 3 3 0.5 intronic rs580964 SETX AR,AD NM_015046 exon19 c.67210+144A>G 0.864816 0.7927 Uncertain 9_135218047_A->G 9 135218047 135218047 A G snp 1724.77 0/1 99 178 98 80 0.45 intronic rs11790312 SETX AR,AD NM_015046 exon22 c.78451-29A>G 0.0972444 0.2361 0.050208 0.0715 0.2727 Uncertain 9_135221597_G->A 9 135221597 135221597 G A snp 480.77 1/1 36 16 0 16 1.0 intronic rs497650 SETX AR,AD NM_015046 exon23 c.82022-50G>A 0.995607 1 0.996153 0.9990 1 Uncertain 9_135251616_G->A 9 135251616 135251616 G A snp 607.77 0/1 99 36 18 18 0.5 intronic rs17149015 TTF1 AU NM_007344 exon1 c.254+61G>A 0.122604 0.254 Uncertain 9_135262244_T->G 9 135262244 135262244 T G snp 258.8 1/1 21 7 0 7 1.0 intronic rs1166300 TTF1 AU NM_007344 exon3 c.10707+236T>G 0.927117 1 Uncertain 9_135263573_G->T 9 135263573 135263573 G T snp 5124.77 1/1 99 187 0 187 1.0 exonic rs556386 TTF1 AU synonymous SNV NM_001205296 exon7 c.C720A p.I240I 0.901757 0.9722 0.906505 0.9666 0.9768 Uncertain 9_135265876_T->C 9 135265876 135265876 T C snp 942.77 1/1 69 28 0 28 1.0 intronic rs471890 TTF1 AU NM_007344 exon5 c.14682-107T>C 0.896565 0.9623 Uncertain 9_135271692_C->T 9 135271692 135271692 C T snp 65.77 0/1 94 10 7 3 0.3 intronic rs1166319 TTF1 AU NM_007344 exon7 c.20518-127C>T 0.258786 0.2887 Uncertain 9_135271725_C->T 9 135271725 135271725 C T snp 200.77 0/1 99 22 15 7 0.32 intronic rs1166320 TTF1 AU NM_007344 exon7 c.20518-94C>T 0.276558 0.2887 Uncertain 9_135271987_T->C 9 135271987 135271987 T C snp 1463.77 0/1 99 117 56 61 0.52 intronic rs1166321 TTF1 AU NM_007344 exon7 c.20597+89T>C 0.71905 0.7113 Uncertain 9_135273507_G->A 9 135273507 135273507 G A snp 843.77 0/1 99 94 55 39 0.41 intronic rs569288 TTF1 AU NM_007344 exon8 c.22226-20G>A 0.71885 0.7103 0.761421 0.7996 0.6866 Uncertain 9_135273607_C->G 9 135273607 135273607 C G snp 1926.77 0/1 99 233 146 87 0.37 exonic rs504525 TTF1 AU synonymous SNV NM_001205296 exon3 c.G153C p.L51L 0.71865 0.7103 0.761341 0.7985 0.6874 Uncertain 9_135273759_-->A 9 135273759 135273759 - A indel 1850.73 1/1 99 50 0 50 1.0 intronic rs397805998 TTF1 AU NM_007344 exon8 c.22412+46insA 0.910743 0.9643 0.890877 0.9236 0.9831 Uncertain 9_135277130_C->A 9 135277130 135277130 C A snp 2175.77 0/1 99 193 103 90 0.47 exonic rs3739915 TTF1 AU nonsynonymous SNV NM_007344 exon2 c.G1079T p.G360V 0.0960463 0.246 0.047593 0.0693 0.2449 0.39 T 0.0 P -0.979 T 0.94 T 0.505 D ID=COSM3763704;OCCURENCE=1(large_intestine) Pathogenic 9_135277301_A->G 9 135277301 135277301 A G snp 827.77 0/1 99 118 77 41 0.35 exonic rs3739914 TTF1 AU nonsynonymous SNV NM_007344 exon2 c.T908C p.V303A 0.0597045 0.2014 0.002230 0.0351 0.2344 0.88 T 0.0 P -0.960 T 0.0 T 0.0 T Pathogenic 9_135277341_C->A 9 135277341 135277341 C A snp 1028.77 0/1 99 122 77 45 0.37 exonic rs8999 TTF1 AU nonsynonymous SNV NM_007344 exon2 c.G868T p.A290S 0.151757 0.252 0.088344 0.1136 0.2944 1 T 0.0 P -0.943 T 0.106 T 0.005 T Pathogenic 9_135285840_C->T 9 135285840 135285840 C T snp 1203.77 0/1 99 126 73 53 0.42 exonic rs76922475 C9orf171 AU nonsynonymous SNV NM_001282957 exon1 c.C182T p.P61L 0.0215655 0.0853 0.000466 0.0137 0.1045 0.02 T 0.999 D -0.936 T 0.992 D 0.868 D Pathogenic 9_135374898_T->C 9 135374898 135374898 T C snp 6611.77 1/1 99 245 0 245 1.0 exonic rs562350 C9orf171 AU synonymous SNV NM_001282957 exon3 c.T435C p.N145N 0.678315 0.8254 0.624635 0.5875 0.8351 Uncertain 9_135388799_G->A 9 135388799 135388799 G A snp 4421.77 1/1 99 155 1 154 0.99 intronic rs577416 C9orf171 AU NM_207417 exon4 c.89329+13812G>A 0.660543 0.8085 Uncertain 9_135412913_G->A 9 135412913 135412913 G A snp 37.77 0/1 66 9 6 3 0.33 intronic rs13286286 C9orf171 AU NM_207417 exon5 c.127329-74G>A 0.262181 0.2907 Uncertain 9_135470176_C->G 9 135470176 135470176 C G snp 153.77 0/1 66 10 3 7 0.7 UTR3 rs306549 DDX31 AU 0.822284 0.7014 Uncertain 9_135470414_T->C 9 135470414 135470414 T C snp 1383.77 0/1 99 122 58 64 0.52 exonic rs306547 DDX31 AU nonsynonymous SNV NM_022779 exon20 c.A2395G p.I799V 0.826877 0.7183 0.808550 0.7771 0.7183 0.4 T 0.0 P -1.028 T 0.0 T 0.0 T ID=COSM4163463;OCCURENCE=1(thyroid) Pathogenic 9_135537573_G->T 9 135537573 135537573 G T snp 984.77 0/1 99 81 38 43 0.53 intronic rs3739900 DDX31 AU NM_138620 exon13 c.23900-74G>T 0.19349 0.2817 Uncertain 9_135538807_G->C 9 135538807 135538807 G C snp 393.77 0/1 99 34 20 14 0.41 intronic rs2583805 DDX31 AU NM_138620 exon14 c.24335+725G>C 0.803714 0.6379 Uncertain 9_135544772_G->A 9 135544772 135544772 G A snp 110.77 0/1 99 9 4 5 0.56 intronic rs11243872 DDX31 AU NM_138620 exon15 c.31499-474G>A 0.224441 0.4127 Uncertain 9_135554566_G->A 9 135554566 135554566 G A snp 1464.77 0/1 99 128 68 60 0.47 exonic rs371169 GTF3C4 AU synonymous SNV NM_012204 exon2 c.G1560A p.E520E 0.51278 0.5714 0.461710 0.4435 0.5738 Uncertain 9_135601354_T->C 9 135601354 135601354 T C snp 160.77 0/1 99 12 5 7 0.58 intronic rs396819 AK8 AU NM_152572 exon1 c.238+42T>C 0.653954 0.506 0.630478 0.6226 0.5116 Uncertain 9_135601367_G->C 9 135601367 135601367 G C snp 113.77 0/1 88 9 4 5 0.56 intronic rs396801 AK8 AU NM_152572 exon1 c.238+55G>C 0.61262 0.504 Uncertain 9_135602727_T->C 9 135602727 135602727 T C snp 429.77 1/1 33 12 0 12 1.0 intronic rs1999121 AK8 AU NM_152572 exon2 c.1766-113T>C 0.770367 0.8502 Uncertain 9_135603109_CC->- 9 135603109 135603110 CC - indel 253.8 1/1 18 6 0 6 1.0 intronic rs139398120 AK8 AU NM_152572 exon2 c.1847+188_1847+189delCC 0.770367 0.8502 Uncertain 9_135702490_T->C 9 135702490 135702490 T C snp 256.77 0/1 99 25 14 11 0.44 intronic rs13299768 AK8 AU NM_152572 exon6 c.101367+49T>C 0.352436 0.375 0.345740 0.4375 0.3355 Uncertain 9_135730078_T->G 9 135730078 135730078 T G snp 474.77 0/1 99 37 21 16 0.43 intronic rs214640 AK8 AU NM_152572 exon9 c.129169-165T>G 0.352037 0.374 Uncertain 9_135739214_C->T 9 135739214 135739214 C T snp 254.77 0/1 99 31 18 13 0.42 intronic rs2285938 AK8 AU NM_152572 exon10 c.138091+49C>T 0.235423 0.4464 0.181077 0.2152 0.4594 Uncertain 9_135739226_T->C 9 135739226 135739226 T C snp 782.77 1/1 57 26 0 26 1.0 intronic rs2251448 AK8 AU NM_152572 exon10 c.138091+61T>C 0.781949 0.8601 Uncertain 9_135742518_C->T 9 135742518 135742518 C T snp 258.8 1/1 21 7 0 7 1.0 intronic rs2526009 AK8 AU NM_152572 exon11 c.141266+178C>T 0.708866 0.8194 Uncertain 9_135764081_A->G 9 135764081 135764081 A G snp 1481.77 1/1 99 45 0 45 1.0 intronic rs1062218 C9orf9 AU NM_018956 exon4 c.4490+257A>G 0.50619 0.4107 Uncertain 9_135776034_C->T 9 135776034 135776034 C T snp 387.77 1/1 30 11 0 11 1.0 intronic rs1076160 TSC1 AU,AD NM_001162426 exon4 c.4480-67C>T 0.41234 0.5585 Uncertain 9_135861998_T->G 9 135861998 135861998 T G snp 907.77 0/1 99 85 46 39 0.46 intronic rs2073577 GFI1B AD 0.243211 0.2758 Uncertain 9_135862592_A->C 9 135862592 135862592 A C snp 674.77 0/1 99 62 38 24 0.39 intronic rs2073578 GFI1B AD NM_001135031 exon3 c.603-76A>C 0.246805 0.2679 Uncertain 9_135862632_C->T 9 135862632 135862632 C T snp 1365.77 0/1 99 132 73 59 0.45 intronic rs633153 GFI1B AD NM_001135031 exon3 c.603-36C>T 0.483227 0.3869 0.476857 0.5352 0.3896 Uncertain 9_135863485_A->G 9 135863485 135863485 A G snp 793.77 0/1 99 61 32 29 0.48 intronic rs615667 GFI1B AD NM_001135031 exon4 c.1518-98A>G 0.474042 0.4355 Uncertain 9_135865359_A->G 9 135865359 135865359 A G snp 2434.77 0/1 99 227 124 103 0.45 intronic rs681470 GFI1B AD NM_001135031 exon5 c.3229+65A>G 0.253594 0.2758 Uncertain 9_135865496_T->C 9 135865496 135865496 T C snp 139.03 1/1 12 4 0 4 1.0 intronic rs8193003 GFI1B AD NM_001135031 exon5 c.3229+202T>C 0.427915 0.4067 Uncertain 9_135957806_G->T 9 135957806 135957806 G T snp 118.77 0/1 99 9 4 5 0.56 upstream rs28581998 CELP AU 0.326478 0.3631 Uncertain 9_135958007_C->T 9 135958007 135958007 C T snp 107.77 0/1 99 18 12 6 0.33 ncRNA_exonic rs200063025 CELP AU 0.136581 0.1905 Uncertain 9_135960308_C->T 9 135960308 135960308 C T snp 359.77 0/1 99 127 83 44 0.35 ncRNA_exonic rs202223575 CELP AU 0.176518 0.2698 0.2878 0.4394 Uncertain 9_135961809_T->C 9 135961809 135961809 T C snp 2163.77 0/1 99 197 120 77 0.39 ncRNA_exonic rs679779 CELP AU 0.703674 0.7192 0.7252 0.7160 Uncertain 9_135974079_G->C 9 135974079 135974079 G C snp 1091.77 0/1 99 98 50 48 0.49 exonic rs1062356 RALGDS AU synonymous SNV NM_006266 exon18 c.C2640G p.L880L 0.827476 0.7937 0.853914 0.8416 0.7657 Uncertain 9_135974100_G->A 9 135974100 135974100 G A snp 1123.77 0/1 99 97 49 48 0.49 exonic rs886017 RALGDS AU synonymous SNV NM_006266 exon18 c.C2619T p.T873T 0.491613 0.628 0.449485 0.5423 0.6224 Uncertain 9_135976679_C->A 9 135976679 135976679 C A snp 1787.77 0/1 99 132 60 72 0.55 intronic rs2519090 RALGDS AU NM_006266 exon3 c.2933-227C>A 0.227436 0.3651 0.3575 0.4854 Uncertain 9_135977583_C->T 9 135977583 135977583 C T snp 2037.77 1/1 99 73 0 73 1.0 intronic rs2519091 RALGDS AU NM_006266 exon4 c.3553+57C>T 0.822284 0.8423 Uncertain 9_135977586_C->T 9 135977586 135977586 C T snp 824.77 0/1 99 68 34 34 0.5 intronic rs76832424 RALGDS AU NM_006266 exon4 c.3553+60C>T 0.172724 0.2202 Uncertain 9_135978153_G->C 9 135978153 135978153 G C snp 2059.77 1/1 99 70 0 70 1.0 intronic rs694881 RALGDS AU NM_006266 exon6 c.4192-12G>C 0.76238 0.8442 0.698723 0.7374 0.8621 Uncertain 9_135978378_T->C 9 135978378 135978378 T C snp 277.77 0/1 99 26 15 11 0.42 intronic rs686346 RALGDS AU NM_006266 exon6 c.4314+91T>C 0.277157 0.3621 Uncertain 9_135979751_C->G 9 135979751 135979751 C G snp 1875.77 1/1 99 79 0 79 1.0 intronic rs598499 RALGDS AU NM_006266 exon9 c.5745+33C>G 0.76877 0.8433 0.707058 0.7404 0.8646 Uncertain 9_136004699_G->A 9 136004699 136004699 G A snp 4901.77 1/1 99 186 0 186 1.0 intergenic rs623361 RALGDS AU 0.347045 0.4821 0.249650 0.4082 0.5852 0.04 T 0.000 P -0.942 T 0.019 T 0.007 T Uncertain 9_136030458_C->T 9 136030458 136030458 C T snp 1079.77 1/1 78 35 0 35 1.0 intronic rs651453 GBGT1 AU NM_001282632 exon2 c.1601-106C>T 0.885982 0.997 Uncertain 9_136031346_A->G 9 136031346 136031346 A G snp 3258.77 1/1 99 115 0 115 1.0 intronic rs2073927 GBGT1 AU NM_001282632 exon3 c.2360+23A>G 0.577875 0.5427 0.577733 0.5273 0.5618 Uncertain 9_136031550_A->T 9 136031550 136031550 A T snp 312.78 1/1 24 10 0 10 1.0 intronic rs2073926 GBGT1 AU NM_001288572 exon4 c.2526+61A>T 0.224042 0.495 Uncertain 9_136036928_A->- 9 136036928 136036928 A - indel 1041.73 1/1 96 33 0 33 1.0 intronic rs35602119 GBGT1 AU NM_001282632 exon4 c.7956+9delA 0.202676 0.4901 0.063149 0.1569 0.5458 Uncertain 9_136037742_G->A 9 136037742 136037742 G A snp 6574.77 1/1 99 239 0 239 1.0 exonic rs2073924 GBGT1 AU nonsynonymous SNV NM_001282629 exon2 c.C58T p.L20F 0.316693 0.5288 0.220471 0.2777 0.5713 0.08 T 0.000 P -0.922 T 0.033 T 0.027 T Pathogenic 9_136037845_T->C 9 136037845 136037845 T C snp 4070.77 1/1 99 153 0 153 1.0 UTR5 rs2073923 GBGT1 AU 0.326078 0.5317 0.224420 0.2721 0.5432 Uncertain 9_136037971_T->C 9 136037971 136037971 T C snp 208.84 1/1 18 6 0 6 1.0 intronic rs2073922 GBGT1 AU NM_001282632 exon5 c.8956+52T>C 0.337859 0.5308 Uncertain 9_136080746_A->G 9 136080746 136080746 A G snp 844.77 1/1 63 30 0 30 1.0 UTR3 rs1052517 OBP2B AU 0.734225 0.6369 Uncertain 9_136081391_G->A 9 136081391 136081391 G A snp 1281.77 1/1 93 53 0 53 1.0 intronic rs6597608 OBP2B AU NM_014581 exon2 c.23+64G>A 0.610823 0.5645 Uncertain 9_136081466_C->T 9 136081466 136081466 C T snp 303.78 1/1 27 11 0 11 1.0 intronic rs6597609 OBP2B AU NM_014581 exon2 c.23+139C>T 0.571885 0.5159 Uncertain 9_136081598_C->T 9 136081598 136081598 C T snp 2581.77 1/1 99 87 0 87 1.0 intronic rs28507496 OBP2B AU NM_014581 exon3 c.397-103C>T 0.392173 0.5744 Uncertain 9_136083801_A->G 9 136083801 136083801 A G snp 1314.77 1/1 96 47 0 47 1.0 intronic rs4310274 OBP2B AU NM_014581 exon6 c.2551-54A>G 0.764776 0.6369 Uncertain 9_136131022_C->T 9 136131022 136131022 C T snp 612.77 0/1 99 49 27 22 0.45 UTR3 rs8176751 ABO AU 0.164537 0.1944 0.101739 0.2088 0.2268 Uncertain 9_136131188_C->T 9 136131188 136131188 C T snp 2325.77 0/1 99 240 142 98 0.41 exonic rs8176749 ABO AU unknown 0.152556 0.1925 0.100221 0.1209 0.1764 Uncertain 9_136131289_C->T 9 136131289 136131289 C T snp 3161.77 0/1 99 217 83 134 0.62 exonic rs8176748 ABO AU unknown 0.269369 0.2897 0.233621 0.2640 0.2707 Uncertain 9_136131315_C->G 9 136131315 136131315 C G snp 1832.77 0/1 99 207 125 82 0.4 exonic rs8176747 ABO AU unknown 0.152756 0.1935 0.099426 0.1309 0.1944 CLINSIG=other;CLNDBN=ABO_BLOOD_GROUP_SYSTEM\x2c_B(A)_PHENOTYPE;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000019312.3;CLNDSDB=MedGen:OMIM;CLNDSDBID=CN221270:616093 ID=COSM3952439;OCCURENCE=1(lung) Uncertain 9_136131322_G->T 9 136131322 136131322 G T snp 1731.77 0/1 99 206 126 80 0.39 exonic rs8176746 ABO AU unknown 0.152756 0.1935 0.101137 0.1326 0.1972 Uncertain 9_136131347_G->A 9 136131347 136131347 G A snp 2641.77 0/1 99 183 70 113 0.62 exonic rs8176745 ABO AU unknown 0.269569 0.2897 0.233476 0.2962 0.3185 Uncertain 9_136131415_C->T 9 136131415 136131415 C T snp 1733.77 0/1 99 164 92 72 0.44 exonic rs8176743 ABO AU unknown 0.152955 0.1944 0.100241 0.1600 0.2354 Uncertain 9_136131437_C->T 9 136131437 136131437 C T snp 2571.77 0/1 99 182 80 102 0.56 exonic rs8176742 ABO AU unknown 0.239217 0.2887 0.187303 0.2367 0.2511 Uncertain 9_136131461_G->A 9 136131461 136131461 G A snp 1825.77 0/1 99 190 113 77 0.41 exonic rs8176741 ABO AU unknown 0.152955 0.1944 0.102488 0.1604 0.2440 Uncertain 9_136131472_A->T 9 136131472 136131472 A T snp 2875.77 0/1 99 211 87 124 0.59 exonic rs8176740 ABO AU unknown 0.26897 0.2887 0.225992 0.2539 0.2543 Uncertain 9_136131592_G->C 9 136131592 136131592 G C snp 2528.77 0/1 99 248 137 111 0.45 exonic rs7853989 ABO AU unknown 0.164137 0.1944 0.112182 0.1441 0.1913 Uncertain 9_136131783_C->T 9 136131783 136131783 C T snp 834.77 0/1 99 112 71 41 0.37 intronic rs8176737 ABO AU NM_020469 exon1 c.691+40C>T 0.290335 0.2887 0.214582 0.2610 0.2605 Uncertain 9_136131785_T->C 9 136131785 136131785 T C snp 853.77 0/1 99 110 69 41 0.37 intronic rs8176736 ABO AU NM_020469 exon1 c.691+42T>C 0.290335 0.2887 0.217155 0.2603 0.2601 Uncertain 9_136131846_T->C 9 136131846 136131846 T C snp 1142.77 1/1 84 35 0 35 1.0 intronic rs7873416 ABO AU NM_020469 exon1 c.691+103T>C 0.453874 0.4831 Uncertain 9_136131895_C->T 9 136131895 136131895 C T snp 132.77 0/1 99 14 9 5 0.36 intronic rs7855255 ABO AU NM_020469 exon1 c.691+152C>T 0.163738 0.1954 Uncertain 9_136131905_T->C 9 136131905 136131905 T C snp 99.28 1/1 9 3 0 3 1.0 intronic rs7873522 ABO AU NM_020469 exon1 c.691+162T>C 0.453674 0.4831 Uncertain 9_136132617_G->A 9 136132617 136132617 G A snp 108.77 0/1 99 10 6 4 0.4 intronic rs8176725 ABO AU NM_020469 exon2 c.1743-178G>A 0.176717 0.2599 Uncertain 9_136132633_A->G 9 136132633 136132633 A G snp 330.77 0/1 99 20 9 11 0.55 intronic rs2073824 ABO AU NM_020469 exon2 c.1743-162A>G 0.461262 0.5486 Uncertain 9_136132754_C->A 9 136132754 136132754 C A snp 1370.77 0/1 99 122 60 62 0.51 intronic rs8176722 ABO AU NM_020469 exon2 c.1743-41C>A 0.153954 0.1944 0.105928 0.1326 0.1793 Uncertain 9_136132873_T->C 9 136132873 136132873 T C snp 1069.77 0/1 99 111 66 45 0.41 exonic rs8176720 ABO AU unknown 0.453275 0.4831 0.371453 0.3991 0.4476 Uncertain 9_136132908_-->C 9 136132908 136132908 - C indel 978.73 0/1 99 74 42 32 0.43 exonic rs8176719 ABO AU unknown 0.34385 0.38 0.340046 0.3764 0.3806 Uncertain 9_136132954_T->C 9 136132954 136132954 T C snp 284.77 0/1 99 27 17 10 0.37 intronic rs75179845 ABO AU NM_020469 exon2 c.1877+25T>C 0.105032 0.1935 0.050761 0.1044 0.1824 Uncertain 9_136133381_GGG->- 9 136133381 136133383 GGG - indel 3834.73 1/1 99 62 0 62 1.0 intronic rs66882853 ABO AU NM_020469 exon3 c.2434-105_2434-103delGGG Uncertain 9_136133506_A->G 9 136133506 136133506 A G snp 1849.77 1/1 99 70 0 70 1.0 exonic rs512770 ABO AU unknown 0.726438 0.7113 0.778533 0.7604 0.7304 Uncertain 9_136133531_A->G 9 136133531 136133531 A G snp 826.77 0/1 99 66 30 36 0.55 intronic rs4962040 ABO AU NM_020469 exon3 c.2470+9A>G 0.3123 0.3224 0.337395 0.3424 0.3424 Uncertain 9_136133583_G->- 9 136133583 136133583 G - indel 1229.73 1/1 99 36 0 36 1.0 intronic rs8176712 ABO AU NM_020469 exon3 c.2470+61delG 0.687899 0.7044 0.713024 Uncertain 9_136135096_A->G 9 136135096 136135096 A G snp 309.78 1/1 24 9 0 9 1.0 intronic rs625593 ABO AU NM_020469 exon4 c.4170-126A>G 0.707468 0.7103 Uncertain 9_136135138_CTTCTGTCCACAC->- 9 136135138 136135150 CTTCTGTCCACAC - indel 3810.73 1/1 72 24 0 24 1.0 intronic rs6151203 ABO AU NM_020469 exon4 c.4170-84_4170-72delCTTCTGTCCACAC Uncertain 9_136135195_G->C 9 136135195 136135195 G C snp 1738.77 1/1 99 63 0 63 1.0 intronic rs549331 ABO AU NM_020469 exon4 c.4170-27G>C 0.696286 0.7034 0.720181 0.7304 0.7221 Uncertain 9_136135237_A->G 9 136135237 136135237 A G snp 2408.77 1/1 99 89 0 89 1.0 exonic rs549443 ABO AU unknown 0.732029 0.7103 0.736387 0.7387 0.7261 ID=COSM4007087;OCCURENCE=1(urinary_tract) Uncertain 9_136135238_T->C 9 136135238 136135238 T C snp 2394.77 1/1 99 89 0 89 1.0 exonic rs549446 ABO AU unknown 0.707268 0.7103 0.708137 0.7316 0.7260 Uncertain 9_136135365_A->G 9 136135365 136135365 A G snp 2116.77 1/1 99 73 0 73 1.0 intronic rs624601 ABO AU NM_020469 exon4 c.4218+95A>G 0.696086 0.7034 Uncertain 9_136135444_G->A 9 136135444 136135444 G A snp 760.77 1/1 57 22 0 22 1.0 intronic rs551322 ABO AU NM_020469 exon4 c.4218+174G>A 0.707268 0.7103 Uncertain 9_136135478_A->G 9 136135478 136135478 A G snp 297.78 1/1 24 8 0 8 1.0 intronic rs613423 ABO AU NM_020469 exon4 c.4218+208A>G 0.707268 0.7103 Uncertain 9_136136770_A->C 9 136136770 136136770 A C snp 4527.77 1/1 99 169 0 169 1.0 exonic rs688976 ABO AU unknown 0.715655 0.7103 0.740191 0.7577 0.7564 Uncertain 9_136136963_G->T 9 136136963 136136963 G T snp 40.77 0/1 69 5 3 2 0.4 intronic rs2073826 ABO AU NM_020469 exon5 c.5725+186G>T 0.320487 0.3204 Uncertain 9_136137657_C->T 9 136137657 136137657 C T snp 889.77 0/1 99 72 36 36 0.5 intronic rs8176693 ABO AU NM_020469 exon6 c.6519+86C>T 0.135982 0.1935 Uncertain 9_136150403_A->G 9 136150403 136150403 A G snp 129.03 1/1 12 4 0 4 1.0 intronic rs537895 ABO AU NM_020469 exon7 c.19525-174A>G 0.74401 0.6925 Uncertain 9_136150466_C->T 9 136150466 136150466 C T snp 121.77 0/1 99 9 4 5 0.56 intronic rs616154 ABO AU NM_020469 exon7 c.19525-111C>T 0.509385 0.4077 Uncertain 9_136150484_A->G 9 136150484 136150484 A G snp 257.77 0/1 99 18 8 10 0.56 intronic rs559723 ABO AU NM_020469 exon7 c.19525-93A>G 0.509585 0.4077 Uncertain 9_136185116_G->C 9 136185116 136185116 G C snp 510.77 1/1 39 16 0 16 1.0 intergenic ABO AU 0.0954473 0.1607 Uncertain 9_136185215_T->C 9 136185215 136185215 T C snp 1390.77 1/1 99 69 4 65 0.94 intergenic ABO AU 0.102436 0.1736 Uncertain 9_136185358_T->C 9 136185358 136185358 T C snp 357.77 1/1 33 21 0 21 1.0 intergenic ABO AU 0.952476 1 Uncertain 9_136200810_G->A 9 136200810 136200810 G A snp 88.28 1/1 9 3 0 3 1.0 intronic rs120858 SURF6 AU NM_006753 exon3 c.1938+168G>A 0.509585 0.6845 Uncertain 9_136201470_C->A 9 136201470 136201470 C A snp 566.77 1/1 45 16 0 16 1.0 intronic rs563666 SURF6 AU NM_006753 exon4 c.2733+33C>A 0.965455 1 0.959320 0.9872 1 Uncertain 9_136213521_T->C 9 136213521 136213521 T C snp 4038.77 1/1 99 144 0 144 1.0 UTR5 rs616836 MED22 AU 0.686502 0.7024 0.693065 0.6295 0.6833 Uncertain 9_136214955_A->G 9 136214955 136214955 A G snp 3005.77 1/1 99 87 0 87 1.0 UTR5 rs553877 MED22 AU 0.67472 0.7044 Uncertain 9_136218590_C->A 9 136218590 136218590 C A snp 185.9 1/1 15 6 0 6 1.0 downstream RPL7A AU 0.510982 0.6825 Uncertain 9_136218591_A->G 9 136218591 136218591 A G snp 185.9 1/1 15 6 0 6 1.0 downstream RPL7A AU 0.511382 0.6825 Uncertain 9_136219594_G->A 9 136219594 136219594 G A snp 720.77 0/1 99 52 25 27 0.52 exonic SURF1 AR,AO synonymous SNV NM_003172 exon6 c.C543T p.F181F 0.0489217 0.2212 0.005460 0.0241 0.2563 ID=COSM150740;OCCURENCE=1(stomach) Uncertain 9_136223366_G->A 9 136223366 136223366 G A snp 481.77 1/1 36 15 0 15 1.0 upstream rs523304 SURF1 AR,AO 0.511981 0.6825 0.5354 0.67 CLINSIG=non-pathogenic;CLNDBN=not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000128344.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Uncertain 9_136227017_G->A 9 136227017 136227017 G A snp 3474.77 0/1 99 250 112 138 0.55 intronic SURF2 AU NM_017503 exon4 c.3537+12G>A 0.0636981 0.0952 0.076130 0.0775 0.1018 Uncertain 9_136227260_A->G 9 136227260 136227260 A G snp 2275.77 1/1 99 72 0 72 1.0 exonic SURF2 AU nonsynonymous SNV NM_001278928 exon5 c.A637G p.S213G 0.675919 0.7024 0.678225 0.6272 0.6851 1 T 0.0 P -0.962 T 0.0 T 0.0 T ID=COSM4163483;OCCURENCE=1(thyroid) Pathogenic 9_136234124_A->G 9 136234124 136234124 A G snp 2869.77 1/1 99 98 0 98 1.0 intronic rs1179033 SURF4 AU NM_001280793 exon4 c.3766-10A>G 1 1 1 1 Uncertain 9_136242669_T->C 9 136242669 136242669 T C snp 185.9 1/1 15 6 0 6 1.0 intronic rs1179041 SURF4 AU NM_001280793 exon5 c.12424-123T>C 0.519569 0.7183 Uncertain 9_136267811_T->C 9 136267811 136267811 T C snp 460.77 1/1 36 13 0 13 1.0 intronic rs3124749 STKLD1 AU NM_153710 exon14 c.24662-195T>C 0.684904 0.748 Uncertain 9_136268038_C->T 9 136268038 136268038 C T snp 1764.77 0/1 99 170 95 75 0.44 exonic rs3124748 STKLD1 AU synonymous SNV NM_153710 exon14 c.C1371T p.N457N 0.44349 0.4643 0.429572 0.4726 0.4678 ID=COSM3763720;OCCURENCE=1(thyroid),1(large_intestine) Uncertain 9_136272800_G->T 9 136272800 136272800 G T snp 112.77 0/1 99 59 46 13 0.22 intronic REXO4 AU NM_001279349 exon2 c.854-130G>T Uncertain 9_136274057_TG->- 9 136274057 136274058 TG - indel 122.73 0/1 50 17 6 11 0.65 intronic REXO4 AU NM_001279349 exon3 c.1890+91_1890+92delTG Uncertain 9_136274060_G->T 9 136274060 136274060 G T snp 53.77 0/1 82 17 12 5 0.29 intronic REXO4 AU NM_001279349 exon3 c.1890+94G>T Uncertain 9_136277480_A->G 9 136277480 136277480 A G snp 3250.77 1/1 99 117 0 117 1.0 exonic rs2285486 REXO4 AU synonymous SNV NM_001279350 exon4 c.T438C p.T146T 0.697883 0.749 0.695064 0.6326 0.7273 ID=COSM4163488;OCCURENCE=1(thyroid) Uncertain 9_136289374_T->C 9 136289374 136289374 T C snp 101.28 1/1 9 4 0 4 1.0 intronic ADAMTS13 AR NM_139025 exon3 c.1877-66T>C 0.708067 0.8552 Uncertain 9_136291063_C->T 9 136291063 136291063 C T snp 6515.77 1/1 99 239 0 239 1.0 exonic ADAMTS13 AR synonymous SNV NM_139025 exon5 c.C420T p.A140A 0.581869 0.8333 0.516454 0.5504 0.8449 Uncertain 9_136291539_A->G 9 136291539 136291539 A G snp 1933.77 1/1 99 61 0 61 1.0 intronic ADAMTS13 AR NM_139025 exon6 c.3902+74A>G 0.994808 1 Uncertain 9_136295290_A->C 9 136295290 136295290 A C snp 3176.77 1/1 99 107 0 107 1.0 intronic ADAMTS13 AR NM_139025 exon8 c.7658+69A>C 0.959665 1 0.9896 1 Uncertain 9_136298729_G->C 9 136298729 136298729 G C snp 3865.77 1/1 99 148 1 147 0.99 intronic ADAMTS13 AR NM_139025 exon11 c.11197-31G>C 0.517971 0.8125 0.414885 0.4736 0.8245 Uncertain 9_136304497_A->G 9 136304497 136304497 A G snp 5180.77 1/1 99 192 2 190 0.99 exonic ADAMTS13 AR synonymous SNV NM_139025 exon15 c.A1716G p.T572T 0.515974 0.8115 0.415424 0.4718 0.8224 ID=COSM4163494;OCCURENCE=1(thyroid) ID=CM1213383;DIS=Reduced expression;TAG=FP;PUB=22768050 FP Uncertain 9_136305439_G->A 9 136305439 136305439 G A snp 4272.77 1/1 99 148 0 148 1.0 intronic ADAMTS13 AR NM_139025 exon16 c.17901-25G>A 0.514177 0.8115 0.413425 0.4717 0.8228 Uncertain 9_136308542_C->T 9 136308542 136308542 C T snp 959.77 1/1 69 36 0 36 1.0 exonic ADAMTS13 AR synonymous SNV NM_139025 exon19 c.C2280T p.G760G 0.496805 0.8026 0.387250 0.5125 0.8189 ID=COSM3763722;OCCURENCE=4(large_intestine),1(thyroid) Uncertain 9_136310917_C->T 9 136310917 136310917 C T snp 2345.77 0/1 99 177 82 95 0.54 exonic ADAMTS13 AR nonsynonymous SNV NM_139025 exon21 c.C2708T p.S903L 0.00738818 0.0357 0.000077 0.0036 0.0456 0.25 T 1 N -1.069 T 0.0 T 0.0 T ID=CM058044;DIS=Thrombotic thrombocytopaenic purpura;TAG=DM;PUB=16468327 DM Pathogenic 9_136325462_C->T 9 136325462 136325462 C T snp 96.28 1/1 9 3 0 3 1.0 intronic CACFD1 AU NM_001135775 exon1 c.121+153C>T 0.442891 0.7183 Uncertain 9_136328657_T->C 9 136328657 136328657 T C snp 6626.77 1/1 99 230 0 230 1.0 exonic rs3124765 CACFD1 AU synonymous SNV NM_001135775 exon2 c.T174C p.I58I 0.841054 0.9415 0.798555 0.8342 0.9348 Uncertain 9_136340200_T->G 9 136340200 136340200 T G snp 2541.77 1/1 99 92 0 92 1.0 exonic rs2073935 SLC2A6 AU synonymous SNV NM_001145099 exon6 c.A810C p.P270P 0.727835 0.9385 0.642692 0.7402 0.9344 ID=COSM3763724;OCCURENCE=2(large_intestine),1(thyroid) Uncertain 9_136380523_C->A 9 136380523 136380523 C A snp 828.77 0/1 99 39 12 27 0.69 intronic rs117738398 TMEM8C AU NM_001080483 exon2 c.855-89C>A 0.0119808 0.0595 Uncertain 9_136380568_G->A 9 136380568 136380568 G A snp 1354.77 0/1 99 90 37 53 0.59 intronic rs529876750 TMEM8C AU NM_001080483 exon2 c.855-44G>A 0.000798722 0.002 0.0002 0.0023 Uncertain 9_136380599_G->A 9 136380599 136380599 G A snp 1627.77 0/1 99 134 66 68 0.51 intronic rs117901318 TMEM8C AU NM_001080483 exon2 c.855-13G>A 0.0119808 0.0595 0.000615 0.0046 0.0580 Uncertain 9_136384162_A->G 9 136384162 136384162 A G snp 2172.77 0/1 99 159 65 94 0.59 intronic rs11523307 TMEM8C AU NM_001080483 exon3 c.4387+18A>G 0.0888578 0.0923 0.098339 0.1122 0.0910 Uncertain 9_136385437_A->G 9 136385437 136385437 A G snp 2245.77 0/1 99 204 109 95 0.47 intronic rs9802272 TMEM8C AU NM_001080483 exon4 c.5653+27A>G 0.763778 0.7629 0.764724 0.7477 0.7836 Uncertain 9_136385453_A->G 9 136385453 136385453 A G snp 1767.77 0/1 99 167 94 73 0.44 intronic rs9802273 TMEM8C AU NM_001080483 exon4 c.5653+43A>G 0.767173 0.754 0.761802 0.7380 0.7788 Uncertain 9_136390015_A->G 9 136390015 136390015 A G snp 222.77 0/1 99 17 7 10 0.59 UTR5 rs13300181 TMEM8C AU 0.398562 0.2857 0.397045 0.3536 0.2723 Uncertain 9_136401606_A->C 9 136401606 136401606 A C snp 2265.77 0/1 99 162 80 82 0.51 intronic rs11507717 ADAMTSL2 AR 0.567292 0.4911 Uncertain 9_136402345_T->A 9 136402345 136402345 T A snp 113.77 0/1 93 7 3 4 0.57 intronic rs11516156 ADAMTSL2 AR NM_001145320 exon3 c.692-181T>A 0.328874 0.4454 Uncertain 9_136405042_T->A 9 136405042 136405042 T A snp 3045.77 1/1 99 109 0 109 1.0 intronic rs13302230 ADAMTSL2 AR NM_001145320 exon5 c.3161+47T>A 0.438898 0.5774 0.269151 0.3840 0.6020 Uncertain 9_136409457_A->G 9 136409457 136409457 A G snp 264.77 0/1 99 14 5 9 0.64 intronic rs9802736 ADAMTSL2 AR NM_001145320 exon8 c.7757-134A>G 0.360024 0.4663 Uncertain 9_136409580_T->G 9 136409580 136409580 T G snp 1394.77 0/1 99 128 65 63 0.49 intronic rs9802778 ADAMTSL2 AR NM_001145320 exon8 c.7757-11T>G 0.877134 0.8248 0.5424 Uncertain 9_136409854_C->T 9 136409854 136409854 C T snp 32.77 0/1 61 7 5 2 0.29 intronic rs9330463 ADAMTSL2 AR NM_001145320 exon8 c.7838+182C>T 0.720048 0.5109 Uncertain 9_136412170_C->T 9 136412170 136412170 C T snp 2720.77 0/1 99 250 136 114 0.46 exonic rs2073874 ADAMTSL2 AR synonymous SNV NM_014694 exon9 c.C774T p.D258D 0.724042 0.5238 0.875365 0.8194 0.5216 Uncertain 9_136412236_A->T 9 136412236 136412236 A T snp 2291.77 0/1 99 241 140 101 0.42 exonic rs2073875 ADAMTSL2 AR synonymous SNV NM_014694 exon9 c.A840T p.A280A 0.724641 0.5248 0.875519 0.8197 0.5211 Uncertain 9_136412255_A->C 9 136412255 136412255 A C snp 2298.77 0/1 99 227 126 101 0.44 exonic rs2073876 ADAMTSL2 AR synonymous SNV NM_014694 exon9 c.A859C p.R287R 0.724641 0.5248 0.875596 0.8198 0.5215 Uncertain 9_136412346_C->T 9 136412346 136412346 C T snp 682.77 0/1 99 59 35 24 0.41 intronic rs2073878 ADAMTSL2 AR NM_001145320 exon9 c.10501+11C>T 0.720447 0.5079 0.874981 0.8181 0.5101 Uncertain 9_136412382_T->C 9 136412382 136412382 T C snp 238.77 0/1 99 21 12 9 0.43 intronic rs2073879 ADAMTSL2 AR NM_001145320 exon9 c.10501+47T>C 0.72524 0.5238 0.875366 0.8173 0.5220 Uncertain 9_136444741_A->G 9 136444741 136444741 A G snp 99.28 1/1 9 3 0 3 1.0 intronic rs7852638 FAM163B AU NM_001080515 exon1 c.408+190A>G Uncertain 9_136518097_A->G 9 136518097 136518097 A G snp 4750.77 1/1 99 172 0 172 1.0 exonic rs77905 DBH AR,AU synonymous SNV NM_000787 exon9 c.A1410G p.T470T 0.621206 0.9038 0.525450 0.5571 0.9171 ID=COSM35319;OCCURENCE=1(breast),1(large_intestine),1(central_nervous_system),1(thyroid) Uncertain 9_136522187_A->G 9 136522187 136522187 A G snp 2620.77 0/1 99 250 130 120 0.48 splicing rs1611131 DBH AR,AU NM_000787 exon11 c.20698-4A>G 0.240415 0.4028 0.232969 0.2734 0.4151 Pathogenic 9_136523669_C->T 9 136523669 136523669 C T snp 82.77 0/1 99 7 3 4 0.57 UTR3 rs129882 DBH AR,AU 0.255391 0.3611 ID=CR103497;DIS=Parkinson disease, increased risk, assoc;TAG=DFP;PUB=20498626 DFP Uncertain 9_136532107_G->C 9 136532107 136532107 G C snp 424.77 1/1 33 13 0 13 1.0 intronic rs7854480 SARDH AR NM_001134707 exon2 c.2982+115G>C 0.700879 0.8581 0.6031 0.8544 Uncertain 9_136535588_T->C 9 136535588 136535588 T C snp 539.77 1/1 45 18 0 18 1.0 intronic rs2797844 SARDH AR NM_001134707 exon3 c.6695-117T>C 0.627396 0.7927 Uncertain 9_136536036_A->G 9 136536036 136536036 A G snp 139.03 1/1 12 4 0 4 1.0 intronic rs2519124 SARDH AR NM_001134707 exon3 c.6864+162A>G 0.6248 0.7976 Uncertain 9_136536633_G->A 9 136536633 136536633 G A snp 1072.77 1/1 81 47 1 46 0.98 intronic rs2797840 SARDH AR NM_001134707 exon4 c.7646-23G>A 0.6248 0.7976 0.520438 0.5707 0.7962 Uncertain 9_136536679_G->A 9 136536679 136536679 G A snp 2170.77 1/1 99 76 0 76 1.0 exonic rs129932 SARDH AR synonymous SNV NM_007101 exon18 c.C2304T p.I768I 0.583267 0.7569 0.481442 0.5262 0.7615 ID=COSM3763727,COSM3763728;OCCURENCE=1(large_intestine),1(thyroid) Uncertain 9_136536793_C->G 9 136536793 136536793 C G snp 3463.77 1/1 99 130 1 129 0.99 exonic rs2519123 SARDH AR synonymous SNV NM_007101 exon18 c.G2190C p.V730V 0.628395 0.7976 0.520830 0.5734 0.7996 ID=COSM3763729,COSM3763730;OCCURENCE=1(large_intestine) Uncertain 9_136555629_T->C 9 136555629 136555629 T C snp 3311.77 1/1 99 125 0 125 1.0 exonic rs886016 SARDH AR nonsynonymous SNV NM_007101 exon16 c.A1942G p.M648V 0.554513 0.4444 0.517530 0.4415 0.4444 0.65 T 1.0 P -0.951 T 0.0 T 0.0 T Pathogenic 9_136559460_C->T 9 136559460 136559460 C T snp 2880.77 1/1 99 104 0 104 1.0 exonic rs2073817 SARDH AR nonsynonymous SNV NM_007101 exon15 c.G1841A p.R614H 0.370607 0.4216 0.320795 0.3494 0.4245 0.2 T 0.001 P -1.008 T 0.984 D 0.806 D ID=COSM3763732,COSM3763731;OCCURENCE=1(large_intestine),1(thyroid) Pathogenic 9_136561303_A->T 9 136561303 136561303 A T snp 2512.77 1/1 99 79 0 79 1.0 intronic rs2502739 SARDH AR NM_001134707 exon8 c.32334-41A>T 0.763978 0.9375 0.787175 0.8172 0.9203 Uncertain 9_136561567_G->T 9 136561567 136561567 G T snp 1296.77 1/1 96 43 0 43 1.0 intronic rs2427998 SARDH AR NM_001134707 exon8 c.32473+84G>T 0.775759 0.9325 Uncertain 9_136568312_C->T 9 136568312 136568312 C T snp 56.74 1/1 6 2 0 2 1.0 intronic rs2427993 SARDH AR NM_001134707 exon9 c.39141+161C>T 0.902556 0.995 Uncertain 9_136570005_T->C 9 136570005 136570005 T C snp 878.77 1/1 66 30 0 30 1.0 intronic rs2510247 SARDH AR NM_001134707 exon10 c.41059-64T>C 0.845447 0.995 Uncertain 9_136573648_A->T 9 136573648 136573648 A T snp 648.77 0/1 99 46 24 22 0.48 intronic rs495464 SARDH AR NM_001134707 exon11 c.44540+98A>T Uncertain 9_136577708_G->A 9 136577708 136577708 G A snp 898.77 0/1 99 98 55 43 0.44 intronic rs756680 SARDH AR NM_001134707 exon12 c.48730-32G>A 0.0565096 0.0813 0.035308 0.0471 0.0974 Uncertain 9_136578462_A->G 9 136578462 136578462 A G snp 44.77 0/1 33 3 1 2 0.67 intronic rs9409819 SARDH AR NM_001134707 exon13 c.49236+216A>G 0.255192 0.3492 Uncertain 9_136582395_A->G 9 136582395 136582395 A G snp 518.77 0/1 99 76 50 26 0.34 intronic rs28395318 SARDH AR NM_001134707 exon14 c.53437-52A>G 0.228035 0.2292 Uncertain 9_136584196_T->G 9 136584196 136584196 T G snp 2019.77 0/1 99 181 96 85 0.47 intronic rs2027963 SARDH AR NM_001134707 exon15 c.55154+32T>G 0.526757 0.5565 0.562125 0.5661 0.5614 Uncertain 9_136594864_A->G 9 136594864 136594864 A G snp 3474.77 1/1 99 126 0 126 1.0 intronic rs2427988 SARDH AR NM_001134707 exon16 c.65876-22A>G 0.778954 0.8621 0.805782 0.8649 0.8560 Uncertain 9_136599315_G->A 9 136599315 136599315 G A snp 643.77 0/1 99 30 10 20 0.67 UTR5 rs2488553 SARDH AR 0.602636 0.7063 0.663674 0.7539 0.7277 Uncertain 9_136635409_G->A 9 136635409 136635409 G A snp 245.8 1/1 21 9 0 9 1.0 intronic rs590614 VAV2 AU NM_001134398 exon4 c.6316-90G>A 0.479034 0.9216 Uncertain 9_136640226_G->A 9 136640226 136640226 G A snp 1584.77 1/1 99 51 0 51 1.0 intronic rs2488559 VAV2 AU NM_001134398 exon6 c.10990+53G>A 0.783147 0.9831 Uncertain 9_136641313_G->C 9 136641313 136641313 G C snp 3089.77 1/1 99 125 0 125 1.0 intronic rs2077065 VAV2 AU NM_001134398 exon7 c.12019+111G>C 0.832268 0.9563 Uncertain 9_136648483_T->C 9 136648483 136648483 T C snp 88.28 1/1 9 3 0 3 1.0 intronic rs2510232 VAV2 AU NM_001134398 exon12 c.19441-141T>C 0.863419 0.999 Uncertain 9_136648535_T->C 9 136648535 136648535 T C snp 1352.77 1/1 99 38 0 38 1.0 intronic rs2488563 VAV2 AU NM_001134398 exon12 c.19441-89T>C 0.904553 0.999 Uncertain 9_136648565_G->A 9 136648565 136648565 G A snp 2069.77 1/1 99 66 1 65 0.98 intronic rs680458 VAV2 AU NM_001134398 exon12 c.19441-59G>A 0.732428 0.9732 Uncertain 9_136648606_G->A 9 136648606 136648606 G A snp 3544.77 1/1 99 134 1 133 0.99 intronic rs1468128 VAV2 AU NM_001134398 exon12 c.19441-18G>A 0.690096 0.9593 0.604798 0.7246 0.9599 Uncertain 9_136648611_-->G 9 136648611 136648611 - G indel 4563.73 1/1 99 136 0 136 1.0 intronic rs56145872 VAV2 AU NM_001134398 exon12 c.19441-13insG 0.131789 0.0079 0.709585 0.8287 0.9636 Uncertain 9_136648746_G->C 9 136648746 136648746 G C snp 1925.77 0/1 99 148 66 82 0.55 intronic rs13283160 VAV2 AU NM_001134398 exon12 c.19530+33G>C 0.289137 0.4087 0.287373 0.3537 0.4213 Uncertain 9_136651126_GTGCCT->- 9 136651126 136651131 GTGCCT - indel 503.73 0/1 99 24 12 12 0.5 intronic rs3081203 VAV2 AU NM_001134398 exon14 c.21824+119_21824+124delGTGCCT 0.555312 0.5635 0.522284 0.5226 0.4971 Uncertain 9_136651185_G->A 9 136651185 136651185 G A snp 113.77 0/1 99 10 5 5 0.5 intronic rs2023664 VAV2 AU NM_001134398 exon14 c.21824+178G>A 0.554313 0.5635 Uncertain 9_136652465_A->G 9 136652465 136652465 A G snp 247.77 0/1 97 15 4 11 0.73 intronic rs2258889 VAV2 AU NM_001134398 exon15 c.23199+83A>G 0.564497 0.5635 0.568769 Uncertain 9_136654497_G->A 9 136654497 136654497 G A snp 2112.77 0/1 99 165 71 94 0.57 intronic rs2072059 VAV2 AU NM_001134398 exon17 c.25282+32G>A 0.436502 0.4752 0.421498 0.4431 0.4709 Uncertain 9_136654553_A->C 9 136654553 136654553 A C snp 833.77 0/1 99 65 32 33 0.51 intronic rs10821524 VAV2 AU NM_001134398 exon17 c.25282+88A>C 0.438299 0.4365 Uncertain 9_136672493_A->G 9 136672493 136672493 A G snp 850.77 0/1 99 86 46 40 0.47 intronic rs2510246 VAV2 AU NM_001134398 exon23 c.43265+45A>G 0.397364 0.2579 0.419577 0.3632 0.2453 Uncertain 9_136672529_A->G 9 136672529 136672529 A G snp 629.77 0/1 99 70 38 32 0.46 intronic rs2428089 VAV2 AU NM_001134398 exon23 c.43265+81A>G 0.445487 0.2589 Uncertain 9_136675361_C->G 9 136675361 136675361 C G snp 1106.77 0/1 99 97 49 48 0.49 intronic rs55662449 VAV2 AU NM_001134398 exon25 c.46144+34C>G 0.00299521 0.0139 0.0019 0.0247 Uncertain 9_136804211_G->A 9 136804211 136804211 G A snp 2515.77 1/1 99 79 0 79 1.0 intronic rs2073886 VAV2 AU NM_001134398 exon29 c.175041-13G>A 0.702676 0.7599 0.719591 0.7450 0.7878 Uncertain 9_136898627_A->G 9 136898627 136898627 A G snp 2655.77 1/1 99 95 0 95 1.0 UTR3 rs433402 BRD3 AU 0.344249 0.6458 Uncertain 9_136905474_C->T 9 136905474 136905474 C T snp 470.77 1/1 36 20 0 20 1.0 intronic rs467379 BRD3 AU NM_007371 exon4 c.6680+83C>T 0.358027 0.6538 Uncertain 9_136907005_G->A 9 136907005 136907005 G A snp 5594.77 1/1 99 215 0 215 1.0 exonic rs467387 BRD3 AU synonymous SNV NM_007371 exon8 c.C1284T p.P428P 0.335463 0.6667 0.211935 0.3479 0.6521 ID=COSM3763733,COSM3763734;OCCURENCE=1(large_intestine) Uncertain 9_136907108_G->A 9 136907108 136907108 G A snp 4508.77 1/1 99 158 0 158 1.0 intronic rs467317 BRD3 AU NM_007371 exon5 c.8362+35G>A 0.529952 0.7202 0.412119 0.4744 0.7178 Uncertain 9_136913123_C->G 9 136913123 136913123 C G snp 203.84 1/1 18 6 0 6 1.0 intronic rs460888 BRD3 AU NM_007371 exon7 c.14493-81C>G 0.326677 0.6389 Uncertain 9_136913355_T->C 9 136913355 136913355 T C snp 3845.77 1/1 99 139 0 139 1.0 exonic rs464826 BRD3 AU synonymous SNV NM_007371 exon6 c.A936G p.L312L 0.72504 0.6845 0.707705 0.6835 0.6577 ID=COSM4163507,COSM4163508;OCCURENCE=1(thyroid) Uncertain 9_136917005_T->G 9 136917005 136917005 T G snp 54.74 1/1 6 2 0 2 1.0 intronic BRD3 AU NM_007371 exon9 c.18120+174T>G Uncertain 9_136918605_G->A 9 136918605 136918605 G A snp 288.77 0/1 99 25 14 11 0.44 UTR5 rs199553332 BRD3 AU 0.00319489 0.0139 0.0017 0.0187 Uncertain 9_136918662_C->A 9 136918662 136918662 C A snp 99.28 1/1 9 3 0 3 1.0 UTR5 rs2073818 BRD3 AU 0.342851 0.6558 Uncertain 9_137004907_T->C 9 137004907 137004907 T C snp 504.77 1/1 39 14 0 14 1.0 upstream rs28581991 WDR5 AU 0.46845 0.5417 Uncertain 9_137019415_G->A 9 137019415 137019415 G A snp 1192.77 1/1 90 33 0 33 1.0 intronic rs28451195 WDR5 AU NM_017588 exon10 c.14588-172G>A 0.138379 0.1895 Uncertain 9_137019511_T->C 9 137019511 137019511 T C snp 7884.77 1/1 99 249 0 249 1.0 intronic rs28703244 WDR5 AU NM_017588 exon10 c.14588-76T>C 0.611022 0.5625 Uncertain 9_137019776_G->A 9 137019776 137019776 G A snp 1636.77 1/1 99 41 0 41 1.0 intronic rs28694247 WDR5 AU NM_017588 exon10 c.14664+113G>A 0.152556 0.1895 Uncertain 9_137271318_C->A 9 137271318 137271318 C A snp 1982.77 1/1 99 76 0 76 1.0 ncRNA_exonic rs35196866 MIR4669 AU 0.603834 0.7579 0.75 1 Uncertain 9_137271408_G->C 9 137271408 137271408 G C snp 944.77 1/1 69 31 0 31 1.0 UTR5 rs34133915 RXRA AU 0.635383 0.7619 Uncertain 9_137271454_A->G 9 137271454 137271454 A G snp 379.77 1/1 30 11 0 11 1.0 UTR5 rs34189335 RXRA AU 0.808706 0.8512 Uncertain 9_137293761_G->A 9 137293761 137293761 G A snp 432.77 0/1 99 20 5 15 0.75 intronic rs2234753 RXRA AU NM_002957 exon2 c.75251+33G>A 0.770966 0.7708 0.888679 0.8246 0.8452 Uncertain 9_137293885_C->T 9 137293885 137293885 C T snp 53.74 1/1 6 3 0 3 1.0 intronic rs2274452 RXRA AU NM_002957 exon2 c.75251+157C>T 0.00219649 0.0109 Uncertain 9_137299949_C->A 9 137299949 137299949 C A snp 1470.77 0/1 99 162 95 67 0.41 intronic rs1805352 RXRA AU NM_002957 exon3 c.81517-45C>A 0.530152 0.749 0.556000 0.6295 0.7492 Uncertain 9_137320855_G->T 9 137320855 137320855 G T snp 492.77 0/1 99 25 9 16 0.64 intronic rs3118570 RXRA AU NM_002957 exon7 c.102476-98G>T 0.830072 0.8036 Uncertain 9_137321156_A->G 9 137321156 137321156 A G snp 395.77 0/1 99 24 11 13 0.54 intronic rs1536475 RXRA AU NM_002957 exon7 c.102609+70A>G 0.816693 0.7589 Uncertain 9_137325822_T->C 9 137325822 137325822 T C snp 125.77 0/1 66 8 2 6 0.75 intronic rs3132293 RXRA AU NM_002957 exon9 c.107470-125T>C 0.809305 0.8115 Uncertain 9_137328286_G->A 9 137328286 137328286 G A snp 1320.77 0/1 99 113 56 57 0.5 intronic rs1805343 RXRA AU NM_002957 exon10 c.109835-26G>A 0.483027 0.6677 0.519376 0.5880 0.6490 Uncertain 9_137592961_T->C 9 137592961 137592961 T C snp 1811.77 1/1 99 59 0 59 1.0 intronic rs4341231 COL5A1 AD NM_000093 exon4 c.58983-55T>C 0.623802 0.7341 Uncertain 9_137600467_C->T 9 137600467 137600467 C T snp 2473.77 0/1 99 202 101 101 0.5 intronic rs55960630 COL5A1 AD NM_000093 exon4 c.59146+7288C>T 0.127196 0.122 0.114271 0.1007 0.1118 Uncertain 9_137600687_C->T 9 137600687 137600687 C T snp 3088.77 0/1 99 248 122 126 0.51 intronic rs3128588 COL5A1 AD NM_000093 exon4 c.59146+7508C>T 0.678914 0.5813 0.6799 0.5708 Uncertain 9_137619195_C->T 9 137619195 137619195 C T snp 990.77 0/1 99 79 35 44 0.56 exonic rs3124299 COL5A1 AD synonymous SNV NM_000093 exon5 c.C738T p.T246T 0.342652 0.4077 0.332154 0.4290 0.3976 CLINSIG=non-pathogenic;CLNDBN=not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000124481.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 ID=COSM3763736;OCCURENCE=2(large_intestine) Uncertain 9_137619425_T->G 9 137619425 137619425 T G snp 185.77 0/1 99 11 5 6 0.55 intronic rs3109683 COL5A1 AD NM_000093 exon5 c.85210+182T>G 0.409345 0.4752 Uncertain 9_137620336_G->A 9 137620336 137620336 G A snp 39.77 0/1 64 4 2 2 0.5 intronic rs3128595 COL5A1 AD NM_000093 exon6 c.86482-179G>A 0.408746 0.4752 Uncertain 9_137620474_C->T 9 137620474 137620474 C T snp 1796.77 0/1 99 159 81 78 0.49 intronic rs3124302 COL5A1 AD NM_000093 exon6 c.86482-41C>T 0.408946 0.4762 0.371367 0.4617 0.4746 Uncertain 9_137622033_A->G 9 137622033 137622033 A G snp 440.77 0/1 99 20 6 14 0.7 intronic rs3124308 COL5A1 AD NM_000093 exon7 c.88048-48A>G 0.408147 0.4762 0.371424 0.4593 0.4691 Uncertain 9_137622039_G->A 9 137622039 137622039 G A snp 588.77 0/1 99 27 9 18 0.67 intronic rs3128598 COL5A1 AD NM_000093 exon7 c.88048-42G>A 0.408746 0.4762 0.370983 0.4590 0.4697 Uncertain 9_137622455_A->C 9 137622455 137622455 A C snp 475.77 0/1 99 37 20 17 0.46 intronic rs3128600 COL5A1 AD NM_000093 exon7 c.88288+134A>C 0.432708 0.5536 Uncertain 9_137623534_C->T 9 137623534 137623534 C T snp 1505.77 0/1 99 110 51 59 0.54 intronic rs56385965 COL5A1 AD NM_000093 exon8 c.89476+25C>T 0.259385 0.4246 0.184231 0.2277 0.4390 Uncertain 9_137623555_T->C 9 137623555 137623555 T C snp 686.77 0/1 99 64 37 27 0.42 intronic rs3109675 COL5A1 AD NM_000093 exon8 c.89476+46T>C 0.419329 0.4772 0.379821 0.4957 0.4849 Uncertain 9_137623601_C->G 9 137623601 137623601 C G snp 634.77 1/1 48 18 0 18 1.0 intronic rs3124310 COL5A1 AD NM_000093 exon8 c.89476+92C>G 0.708067 0.9028 Uncertain 9_137630568_C->T 9 137630568 137630568 C T snp 1263.77 0/1 99 162 104 58 0.36 intronic rs3109677 COL5A1 AD NM_000093 exon11 c.96558-23C>T 0.568291 0.5109 0.591496 0.4985 0.5123 Uncertain 9_137630587_T->C 9 137630587 137630587 T C snp 1322.77 0/1 99 154 97 57 0.37 splicing rs3128612 COL5A1 AD NM_000093 exon11 c.96558-4T>C 0.569289 0.5139 0.591342 0.4997 0.5145 CLINSIG=non-pathogenic;CLNDBN=not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000124490.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Pathogenic 9_137642478_A->G 9 137642478 137642478 A G snp 2791.77 0/1 99 219 104 115 0.53 intronic rs12685946 COL5A1 AD NM_000093 exon12 c.108429+16A>G 0.299521 0.3313 0.310395 0.2361 0.3388 CLINSIG=non-pathogenic;CLNDBN=not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000124420.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Uncertain 9_137642577_T->C 9 137642577 137642577 T C snp 3133.77 0/1 99 222 101 121 0.55 intronic rs12686426 COL5A1 AD NM_000093 exon13 c.108602-58T>C 0.210264 0.3323 Uncertain 9_137642862_T->C 9 137642862 137642862 T C snp 30.77 0/1 33 3 1 2 0.67 intronic rs60008082 COL5A1 AD NM_000093 exon13 c.108695+134T>C 0.170927 0.3234 Uncertain 9_137644269_G->T 9 137644269 137644269 G T snp 37.77 0/1 66 4 2 2 0.5 intronic rs112206433 COL5A1 AD NM_000093 exon14 c.110401-165G>T Uncertain 9_137645585_G->A 9 137645585 137645585 G A snp 72.77 0/1 63 7 3 4 0.57 intronic rs73558066 COL5A1 AD NM_000093 exon15 c.111662-110G>A 0.205072 0.3423 Uncertain 9_137645648_T->C 9 137645648 137645648 T C snp 565.77 0/1 99 28 9 19 0.68 intronic rs10123014 COL5A1 AD NM_000093 exon15 c.111662-47T>C 0.255192 0.3433 0.150800 0.2580 0.3499 Uncertain 9_137645649_C->T 9 137645649 137645649 C T snp 497.77 0/1 99 28 10 18 0.64 intronic rs79679217 COL5A1 AD NM_000093 exon15 c.111662-46C>T 0.166334 0.3413 0.010381 0.1704 0.3489 Uncertain 9_137645662_C->T 9 137645662 137645662 C T snp 605.77 0/1 99 43 19 24 0.56 intronic rs73558067 COL5A1 AD NM_000093 exon15 c.111662-33C>T 0.209065 0.3621 0.209782 0.2139 0.3780 Uncertain 9_137646046_A->G 9 137646046 137646046 A G snp 1929.77 0/1 99 165 85 80 0.48 intronic rs11103501 COL5A1 AD NM_000093 exon16 c.112085-72A>G 0.190695 0.3452 0.203769 Uncertain 9_137646217_G->A 9 137646217 137646217 G A snp 1542.77 0/1 99 119 54 65 0.55 intronic rs11103502 COL5A1 AD NM_000093 exon16 c.112139+45G>A 0.159545 0.3442 0.150238 0.1700 0.3571 Uncertain 9_137653544_C->T 9 137653544 137653544 C T snp 66.77 0/1 95 8 5 3 0.38 intronic rs11103504 COL5A1 AD NM_000093 exon19 c.119737-226C>T 0.183107 0.2808 Uncertain 9_137653625_T->C 9 137653625 137653625 T C snp 476.77 0/1 99 52 33 19 0.37 intronic rs11103505 COL5A1 AD NM_000093 exon19 c.119737-145T>C 0.209265 0.2808 Uncertain 9_137653652_G->T 9 137653652 137653652 G T snp 642.77 0/1 99 76 47 29 0.38 intronic rs11103506 COL5A1 AD NM_000093 exon19 c.119737-118G>T 0.209465 0.2808 Uncertain 9_137653663_G->A 9 137653663 137653663 G A snp 713.77 0/1 99 81 48 33 0.41 intronic rs11103507 COL5A1 AD NM_000093 exon19 c.119737-107G>A 0.209265 0.2808 Uncertain 9_137653717_A->C 9 137653717 137653717 A C snp 1214.77 0/1 99 137 80 57 0.42 intronic rs11103508 COL5A1 AD NM_000093 exon19 c.119737-53A>C 0.209465 0.2808 0.108848 Uncertain 9_137653736_C->A 9 137653736 137653736 C A snp 1426.77 0/1 99 150 84 66 0.44 intronic rs10858278 COL5A1 AD NM_000093 exon19 c.119737-34C>A 0.210064 0.2808 0.122636 0.1133 0.2788 Uncertain 9_137655430_C->T 9 137655430 137655430 C T snp 1125.77 0/1 99 103 48 55 0.53 intronic rs7040856 COL5A1 AD NM_000093 exon20 c.121505-108C>T 0.209864 0.2808 Uncertain 9_137658621_C->T 9 137658621 137658621 C T snp 141.03 1/1 12 4 0 4 1.0 intronic rs74674596 COL5A1 AD NM_000093 exon23 c.124812-224C>T 0.11901 0.2857 Uncertain 9_137658722_G->A 9 137658722 137658722 G A snp 202.77 0/1 99 27 17 10 0.37 intronic rs4842158 COL5A1 AD NM_000093 exon23 c.124812-123G>A 0.155152 0.3452 Uncertain 9_137658730_T->C 9 137658730 137658730 T C snp 991.77 1/1 72 35 0 35 1.0 intronic rs4842159 COL5A1 AD NM_000093 exon23 c.124812-115T>C 0.689097 0.8948 Uncertain 9_137659005_A->T 9 137659005 137659005 A T snp 800.77 0/1 99 58 30 28 0.48 intronic rs4842160 COL5A1 AD NM_000093 exon23 c.124866+106A>T 0.327875 0.4067 Uncertain 9_137660194_G->T 9 137660194 137660194 G T snp 2762.77 1/1 99 99 0 99 1.0 intronic rs4842162 COL5A1 AD NM_000093 exon25 c.126222-61G>T 0.455671 0.7083 0.378887 Uncertain 9_137660375_A->G 9 137660375 137660375 A G snp 1684.77 1/1 99 60 0 60 1.0 intronic rs10776900 COL5A1 AD NM_000093 exon25 c.126276+66A>G 0.453874 0.7083 0.376916 Uncertain 9_137660455_T->C 9 137660455 137660455 T C snp 174.9 1/1 15 5 0 5 1.0 intronic rs10776901 COL5A1 AD NM_000093 exon25 c.126276+146T>C 0.454073 0.7083 Uncertain 9_137678038_T->C 9 137678038 137678038 T C snp 1316.77 1/1 99 36 0 36 1.0 intronic rs3124934 COL5A1 AD NM_000093 exon31 c.143861+144T>C 0.986222 0.999 Uncertain 9_137686906_C->T 9 137686906 137686906 C T snp 3652.77 1/1 99 132 0 132 1.0 intronic rs4072883 COL5A1 AD NM_000093 exon33 c.152894-21C>T 0.691693 0.8284 0.659849 0.6113 0.8340 Uncertain 9_137687038_A->G 9 137687038 137687038 A G snp 5791.77 1/1 99 214 0 214 1.0 intronic rs4072882 COL5A1 AD NM_000093 exon33 c.152939+66A>G 0.69389 0.8284 0.656154 Uncertain 9_137688048_T->C 9 137688048 137688048 T C snp 1715.77 1/1 99 51 0 51 1.0 intronic rs10776902 COL5A1 AD NM_000093 exon35 c.154186-171T>C 0.701677 0.8274 Uncertain 9_137688577_A->G 9 137688577 137688577 A G snp 1271.77 1/1 93 38 0 38 1.0 intronic rs3811161 COL5A1 AD NM_000093 exon36 c.154660-116A>G 0.56849 0.7738 Uncertain 9_137688624_A->G 9 137688624 137688624 A G snp 2804.77 1/1 99 94 0 94 1.0 intronic rs3811160 COL5A1 AD NM_000093 exon36 c.154660-69A>G 0.596845 0.7728 0.552124 Uncertain 9_137688657_A->G 9 137688657 137688657 A G snp 4035.77 1/1 99 146 0 146 1.0 intronic rs3811159 COL5A1 AD NM_000093 exon36 c.154660-36A>G 0.527756 0.748 0.493695 0.4864 0.7541 Uncertain 9_137688781_CCTGTCCCCTCCAAAACCCA->- 9 137688781 137688800 CCTGTCCCCTCCAAAACCCA - indel 26232.7 1/1 99 190 0 190 1.0 intronic rs142676375 COL5A1 AD NM_000093 exon36 c.154714+34_154714+53delCCTGTCCCCTCCAAAACCCA 0.457468 0.5228 0.648982 0.5441 0.8087 Uncertain 9_137688863_G->A 9 137688863 137688863 G A snp 1516.77 0/1 99 106 44 62 0.58 intronic rs72774465 COL5A1 AD NM_000093 exon36 c.154714+116G>A 0.370807 0.4692 Uncertain 9_137689993_G->A 9 137689993 137689993 G A snp 54.74 1/1 6 2 0 2 1.0 intronic rs10776905 COL5A1 AD NM_000093 exon37 c.156220-260G>A 0.565495 0.7738 Uncertain 9_137690318_A->T 9 137690318 137690318 A T snp 5880.77 1/1 99 221 0 221 1.0 intronic rs4240707 COL5A1 AD NM_000093 exon37 c.156274+11A>T 0.562899 0.7738 0.520606 0.5238 0.7881 CLINSIG=non-pathogenic;CLNDBN=not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000124436.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Uncertain 9_137694032_C->A 9 137694032 137694032 C A snp 1507.77 1/1 99 44 0 44 1.0 intronic rs10858281 COL5A1 AD NM_000093 exon38 c.159820+179C>A 0.649561 0.8234 Uncertain 9_137697216_A->G 9 137697216 137697216 A G snp 378.77 1/1 30 10 0 10 1.0 intronic rs7851471 COL5A1 AD NM_000093 exon41 c.163027+156A>G 0.72504 0.8294 Uncertain 9_137698013_C->T 9 137698013 137698013 C T snp 733.77 0/1 99 60 26 34 0.57 intronic rs78743504 COL5A1 AD NM_000093 exon42 c.164001-21C>T 0.0609026 0.0873 0.035289 0.0572 0.0906 Uncertain 9_137700999_G->A 9 137700999 137700999 G A snp 1341.77 0/1 99 151 88 63 0.42 intronic rs11103535 COL5A1 AD NM_000093 exon43 c.166995-29G>A 0.106829 0.121 0.077590 0.1146 0.1815 Uncertain 9_137703489_C->T 9 137703489 137703489 C T snp 306.77 0/1 99 17 6 11 0.65 intronic rs76739261 COL5A1 AD NM_000093 exon46 c.169412+44C>T 0.0227636 0.0833 0.003238 0.0102 0.0662 Uncertain 9_137704140_C->T 9 137704140 137704140 C T snp 121.78 0/1 27 6 1 5 0.83 intronic rs75938430 COL5A1 AD NM_000093 exon47 c.170261-154C>T 0.0227636 0.0833 Uncertain 9_137707942_T->C 9 137707942 137707942 T C snp 1229.77 0/1 99 102 55 47 0.46 intronic rs4841934 COL5A1 AD NM_000093 exon52 c.173801+108T>C 0.602436 0.4901 Uncertain 9_137708803_A->G 9 137708803 137708803 A G snp 1019.77 0/1 99 58 17 41 0.71 intronic rs3811149 COL5A1 AD NM_000093 exon53 c.174838-68A>G 0.592252 0.4921 0.644547 Uncertain 9_137708960_A->C 9 137708960 137708960 A C snp 707.77 0/1 99 39 13 26 0.67 intronic rs10776910 COL5A1 AD NM_000093 exon53 c.174892+35A>C 0.461661 0.4534 0.490005 0.4211 0.4714 Uncertain 9_137708973_A->G 9 137708973 137708973 A G snp 572.77 0/1 99 32 11 21 0.66 intronic rs10858283 COL5A1 AD NM_000093 exon53 c.174892+48A>G 0.461062 0.4534 0.489311 0.4247 0.4753 Uncertain 9_137709517_T->C 9 137709517 137709517 T C snp 544.77 0/1 99 45 27 18 0.4 intronic rs7854010 COL5A1 AD NM_000093 exon54 c.175590-106T>C 0.17472 0.1647 Uncertain 9_137709780_T->C 9 137709780 137709780 T C snp 749.77 0/1 99 81 49 32 0.4 intronic rs11792894 COL5A1 AD NM_000093 exon54 c.175644+103T>C 0.582268 0.4881 Uncertain 9_137711033_A->C 9 137711033 137711033 A C snp 239.77 0/1 99 26 16 10 0.38 intronic rs9696591 COL5A1 AD NM_000093 exon57 c.176866+134A>C 0.0692891 0.0843 Uncertain 9_137711917_G->A 9 137711917 137711917 G A snp 1303.77 0/1 99 120 64 56 0.47 ncRNA_exonic rs3811147 LOC101448202 AU 0.0628994 0.0833 0.044057 0.0242 0.0917 Uncertain 9_137714027_T->C 9 137714027 137714027 T C snp 881.77 0/1 99 61 22 39 0.64 ncRNA_intronic rs9697186 LOC101448202 AU 0.609425 0.498 0.667231 0.5659 0.5205 Uncertain 9_137714767_G->C 9 137714767 137714767 G C snp 933.77 0/1 99 73 34 39 0.53 ncRNA_intronic rs7036997 LOC101448202 AU 0.103435 0.0665 0.079282 Uncertain 9_137715150_A->T 9 137715150 137715150 A T snp 4257.77 1/1 99 142 0 142 1.0 ncRNA_intronic rs3128599 LOC101448202 AU 0.885583 0.8274 Uncertain 9_137715151_T->G 9 137715151 137715151 T G snp 4216.77 1/1 99 143 0 143 1.0 ncRNA_intronic rs3124936 LOC101448202 AU 0.885783 0.8284 Uncertain 9_137717499_C->G 9 137717499 137717499 C G snp 152.78 0/1 24 6 1 5 0.83 ncRNA_intronic rs7855787 LOC101448202 AU 0.238618 0.2321 Uncertain 9_137717511_C->T 9 137717511 137717511 C T snp 150.77 0/1 99 9 3 6 0.67 ncRNA_intronic rs183130562 LOC101448202 AU 0.00119808 0.003 Uncertain 9_137717610_T->C 9 137717610 137717610 T C snp 900.77 0/1 99 69 30 39 0.57 ncRNA_intronic rs7868111 LOC101448202 AU 0.746006 0.75 0.711979 0.7258 0.7791 Uncertain 9_137717869_C->T 9 137717869 137717869 C T snp 43.77 0/1 66 4 2 2 0.5 ncRNA_intronic rs4842172 LOC101448202 AU 0.732228 0.747 Uncertain 9_137733937_T->G 9 137733937 137733937 T G snp 2695.77 0/1 99 231 118 113 0.49 ncRNA_intronic rs12554062 LOC101448202 AU 0.139377 0.1895 Uncertain 9_137734232_C->T 9 137734232 137734232 C T snp 149.77 0/1 61 7 2 5 0.71 ncRNA_intronic rs13946 LOC101448202 AU 0.751398 0.6349 Uncertain 9_137741267_G->A 9 137741267 137741267 G A snp 52.74 1/1 6 2 0 2 1.0 ncRNA_intronic LOC101448202 AU Uncertain 9_137741275_G->T 9 137741275 137741275 G T snp 455.77 1/1 36 15 1 14 0.93 ncRNA_intronic LOC101448202 AU Uncertain 9_137741297_A->G 9 137741297 137741297 A G snp 1156.77 1/1 69 38 2 36 0.95 ncRNA_intronic rs201757360 LOC101448202 AU 0.65635 0.6379 0.0275 0 Uncertain 9_137741411_G->A 9 137741411 137741411 G A snp 2306.77 1/1 99 117 3 114 0.97 ncRNA_intronic rs139588734 LOC101448202 AU 0.886981 0.9802 0.6596 0.8889 Uncertain 9_137741480_G->A 9 137741480 137741480 G A snp 1337.77 1/1 99 61 0 61 1.0 ncRNA_exonic rs113454901 MIR3689D1 AU 0.88738 0.9821 0.5272 0.8125 Uncertain 9_137741530_T->C 9 137741530 137741530 T C snp 868.77 1/1 44 50 1 49 0.98 ncRNA_intronic rs56179815 LOC101448202 AU 0.11222 0.1944 0.1329 0.25 Uncertain 9_137741539_-->ATCACACCTCCCAGGAAGCGTGGT 9 137741539 137741539 - ATCACACCTCCCAGGAAGCGTGGT indel 3365.74 1/1 29 32 1 31 0.97 ncRNA_intronic LOC101448202 AU Uncertain 9_137741559_A->G 9 137741559 137741559 A G snp 444.94 1/1 14 33 1 32 0.97 ncRNA_intronic rs201102415 LOC101448202 AU 0.114217 0.2034 0.0997 0.2188 Uncertain 9_137741609_G->A 9 137741609 137741609 G A snp 330.77 1/1 30 23 1 22 0.96 ncRNA_intronic rs192876440 LOC101448202 AU Uncertain 9_137741632_T->C 9 137741632 137741632 T C snp 207.8 1/1 21 11 0 11 1.0 ncRNA_intronic rs201127101 LOC101448202 AU 0.73722 0.7044 Uncertain 9_137741651_G->A 9 137741651 137741651 G A snp 109.03 1/1 12 6 1 5 0.83 ncRNA_intronic LOC101448202 AU Uncertain 9_137741969_G->A 9 137741969 137741969 G A snp 418.77 0/1 99 84 62 22 0.26 ncRNA_intronic rs771049621 LOC101448202 AU 0.0020 0 Uncertain 9_137741987_G->A 9 137741987 137741987 G A snp 1252.77 0/1 99 100 46 54 0.54 ncRNA_exonic rs74405398 MIR3689B AU 0.0046 0 Uncertain 9_137741989_G->C 9 137741989 137741989 G C snp 1075.77 0/1 99 103 57 46 0.45 ncRNA_exonic rs71506933 MIR3689B AU 0.0007 0 Uncertain 9_137741993_G->A 9 137741993 137741993 G A snp 1454.77 0/1 99 106 48 58 0.55 ncRNA_exonic rs34933499 MIR3689B AU 0.194888 0.2093 0.0353 0 Uncertain 9_137741994_G->A 9 137741994 137741994 G A snp 1121.77 0/1 99 106 60 46 0.43 ncRNA_exonic rs76317538 MIR3689B AU 0.0020 0 Uncertain 9_137741995_G->T 9 137741995 137741995 G T snp 1284.77 0/1 99 107 53 54 0.5 ncRNA_exonic rs774167602 MIR3689B AU 0.0020 0 Uncertain 9_137742013_C->G 9 137742013 137742013 C G snp 2937.77 0/1 99 164 54 110 0.67 ncRNA_exonic rs369116995 MIR3689B AU 0.0379 0.0263 Uncertain 9_137742017_A->G 9 137742017 137742017 A G snp 2871.77 0/1 99 166 49 117 0.7 ncRNA_exonic rs76578598 MIR3689B AU 0.0054 0 Uncertain 9_137742018_A->G 9 137742018 137742018 A G snp 2774.77 0/1 99 167 57 110 0.66 ncRNA_exonic rs79438120 MIR3689B AU 0.0025 0 Uncertain 9_137742043_G->T 9 137742043 137742043 G T snp 61.77 0/1 90 250 222 28 0.11 ncRNA_exonic rs113626871 MIR3689B AU 0.09 0.125 Uncertain 9_137742061_C->G 9 137742061 137742061 C G snp 87.77 0/1 99 248 219 29 0.12 ncRNA_exonic rs200901617 MIR3689B AU 0.0114 0 Uncertain 9_137742064_T->C 9 137742064 137742064 T C snp 84.77 0/1 99 250 219 31 0.12 ncRNA_exonic rs747271157 MIR3689B AU 0.0053 0 Uncertain 9_137742124_G->T 9 137742124 137742124 G T snp 552.77 0/1 99 249 191 58 0.23 ncRNA_exonic rs62571442 MIR3689D2 AU 0.0466 0.125 Uncertain 9_137742202_T->C 9 137742202 137742202 T C snp 529.77 0/1 99 234 164 70 0.3 ncRNA_exonic rs199611566 MIR3689D2 AU 0.0104 0 Uncertain 9_137742231_A->G 9 137742231 137742231 A G snp 514.77 0/1 99 202 147 55 0.27 ncRNA_intronic rs200905048 LOC101448202 AU 0.0031 0 Uncertain 9_137742255_A->G 9 137742255 137742255 A G snp 201.77 0/1 99 172 137 35 0.2 ncRNA_intronic LOC101448202 AU Uncertain 9_137742256_C->T 9 137742256 137742256 C T snp 207.77 0/1 99 170 134 36 0.21 ncRNA_intronic LOC101448202 AU Uncertain 9_137742257_A->G 9 137742257 137742257 A G snp 227.77 0/1 99 169 130 39 0.23 ncRNA_intronic LOC101448202 AU Uncertain 9_137742259_G->T 9 137742259 137742259 G T snp 209.77 0/1 99 167 134 33 0.2 ncRNA_intronic LOC101448202 AU Uncertain 9_137742280_T->C 9 137742280 137742280 T C snp 320.77 0/1 99 112 83 29 0.26 ncRNA_intronic rs373064631 LOC101448202 AU 0.0365415 0.0655 Uncertain 9_137742281_G->A 9 137742281 137742281 G A snp 307.77 0/1 99 108 80 28 0.26 ncRNA_intronic LOC101448202 AU Uncertain 9_137742408_G->C 9 137742408 137742408 G C snp 1925.77 0/1 99 136 58 78 0.57 ncRNA_intronic rs75482448 LOC101448202 AU 0.114217 0.2262 0.0651 0.2429 Uncertain 9_137742541_A->G 9 137742541 137742541 A G snp 750.77 0/1 99 155 114 41 0.26 ncRNA_intronic rs148368571 LOC101448202 AU 0.41893 0.3889 Uncertain 9_137742545_C->T 9 137742545 137742545 C T snp 912.77 0/1 99 158 118 40 0.25 ncRNA_intronic rs118149996 LOC101448202 AU 0.528355 0.4444 0.0029 0 Uncertain 9_137772792_C->T 9 137772792 137772792 C T snp 1552.77 1/1 99 49 0 49 1.0 intronic rs3128627 FCN2 AU NM_015837 exon1 c.100+25C>T 0.977636 1 0.948600 0.9548 0.9999 Uncertain 9_137774545_T->C 9 137774545 137774545 T C snp 1134.77 0/1 99 102 52 50 0.49 intronic rs3124955 FCN2 AU NM_004108 exon2 c.1818+60T>C 0.347444 0.4167 Uncertain 9_137774702_T->C 9 137774702 137774702 T C snp 41.77 0/1 70 4 2 2 0.5 intronic rs77862660 FCN2 AU NM_004108 exon2 c.1818+217T>C 0.0541134 0.1488 Uncertain 9_137775084_A->G 9 137775084 137775084 A G snp 2684.77 0/1 99 200 85 115 0.57 intronic rs7024491 FCN2 AU NM_015837 exon2 c.2480-63A>G 0.473243 0.5615 0.431012 Uncertain 9_137775089_G->A 9 137775089 137775089 G A snp 2631.77 0/1 99 204 84 120 0.59 intronic rs118122273 FCN2 AU NM_015837 exon2 c.2480-58G>A 0.052516 0.1488 0.005256 Uncertain 9_137775139_A->G 9 137775139 137775139 A G snp 1950.77 0/1 99 214 128 86 0.4 intronic rs3128624 FCN2 AU NM_015837 exon2 c.2480-8A>G 0.376997 0.4177 0.344918 0.3638 0.4458 Uncertain 9_137775155_T->C 9 137775155 137775155 T C snp 1908.77 0/1 99 205 121 84 0.41 exonic rs4520243 FCN2 AU synonymous SNV NM_004108 exon3 c.T222C p.R74R 0.375399 0.4097 0.345610 0.3633 0.4372 ID=COSM4163517;OCCURENCE=1(thyroid) Uncertain 9_137775212_G->A 9 137775212 137775212 G A snp 1985.77 0/1 99 132 51 81 0.61 intronic rs7037264 FCN2 AU NM_015837 exon2 c.2534+11G>A 0.505192 0.5595 0.473858 0.4332 0.5288 Uncertain 9_137777570_G->A 9 137777570 137777570 G A snp 593.77 0/1 99 39 17 22 0.56 intronic rs563889241 FCN2 AU NM_015837 exon5 c.4946-43G>A 0.000399361 4.145e-05 0.0001 Uncertain 9_137777727_C->T 9 137777727 137777727 C T snp 1575.77 0/1 99 160 92 68 0.42 exonic rs34789496 FCN2 AU synonymous SNV NM_004108 exon6 c.C543T p.H181H 0.0521166 0.1498 0.004690 0.0262 0.1422 Uncertain 9_137801014_G->A 9 137801014 137801014 G A snp 719.77 0/1 99 59 27 32 0.54 downstream rs78549259 FCN1 AU 0.0589058 0.0387 0.0847 0.0556 Uncertain 9_137801314_A->G 9 137801314 137801314 A G snp 5196.77 1/1 99 181 0 181 1.0 downstream rs2989734 FCN1 AU 0.667532 0.4712 0.6758 0.4951 0.1 T 1.000 P -1.063 T Uncertain 9_137801416_T->C 9 137801416 137801416 T C snp 2371.77 0/1 99 222 119 103 0.46 downstream rs2989735 FCN1 AU 0.526558 0.4315 0.6074 0.4811 0.22 T 0.990 P -0.951 T Uncertain 9_137801800_T->C 9 137801800 137801800 T C snp 6555.77 1/1 99 246 0 246 1.0 exonic rs1071583 FCN1 AU synonymous SNV NM_002003 exon9 c.A825G p.Q275Q 0.683706 0.4712 0.726742 0.6411 0.4897 ID=COSM3763738;OCCURENCE=1(large_intestine) Uncertain 9_137804360_A->G 9 137804360 137804360 A G snp 4190.77 1/1 99 157 0 157 1.0 exonic rs2274845 FCN1 AU synonymous SNV NM_002003 exon7 c.T570C p.N190N 0.667332 0.4673 0.705751 0.6271 0.4841 Uncertain 9_137804830_G->C 9 137804830 137804830 G C snp 479.77 1/1 36 14 0 14 1.0 intronic rs2070622 FCN1 AU NM_002003 exon4 c.3218-31G>C 0.666733 0.4673 0.6588 0.5183 Uncertain 9_137805042_G->T 9 137805042 137805042 G T snp 925.77 0/1 99 120 74 46 0.38 intronic rs141174357 FCN1 AU NM_002003 exon4 c.3346+53G>T 0.000599042 0.002 Uncertain 9_137805112_C->T 9 137805112 137805112 C T snp 815.77 0/1 99 40 15 25 0.63 intronic rs60837943 FCN1 AU NM_002003 exon4 c.3346+123C>T 0.0613019 0.0387 Uncertain 9_137806329_-->C 9 137806329 137806329 - C indel 5726.73 1/1 99 147 0 147 1.0 intronic rs11421281 FCN1 AU NM_002003 exon6 c.4623+63insC 0.607628 0.4653 0.647125 Uncertain 9_137806334_A->G 9 137806334 137806334 A G snp 3764.77 1/1 99 140 0 140 1.0 intronic rs2989721 FCN1 AU NM_002003 exon6 c.4623+68A>G 0.607628 0.4653 Uncertain 9_137806344_C->T 9 137806344 137806344 C T snp 3509.77 1/1 99 133 0 133 1.0 intronic rs3012788 FCN1 AU NM_002003 exon6 c.4623+78C>T 0.607228 0.4653 Uncertain 9_137806483_T->C 9 137806483 137806483 T C snp 122.77 0/1 66 6 2 4 0.67 intronic rs7042453 FCN1 AU NM_002003 exon7 c.4958-118T>C 0.141973 0.0387 Uncertain 9_137806487_G->A 9 137806487 137806487 G A snp 37.77 0/1 66 6 4 2 0.33 intronic rs2989722 FCN1 AU NM_002003 exon7 c.4958-114G>A 0.466054 0.4256 Uncertain 9_137806783_G->A 9 137806783 137806783 G A snp 1218.77 0/1 99 118 61 57 0.48 intronic rs3012789 FCN1 AU NM_002003 exon7 c.5012+128G>A 0.473842 0.4266 Uncertain 9_137808005_C->A 9 137808005 137808005 C A snp 206.84 1/1 18 6 0 6 1.0 intronic rs2989725 FCN1 AU NM_002003 exon8 c.6550-188C>A 0.632987 0.4653 Uncertain 9_137808427_T->A 9 137808427 137808427 T A snp 294.77 0/1 99 24 13 11 0.46 intronic rs2382714 FCN1 AU NM_002003 exon8 c.6664+120T>A 0.463259 0.4256 Uncertain 9_137968919_-->AA 9 137968919 137968919 - AA indel 6755.73 1/1 99 123 0 123 1.0 intronic rs61043559 OLFM1 AU NM_014279 exon1 c.96+1271insAA 0.974641 0.9772 0.9726 0.9939 Uncertain 9_137978638_T->G 9 137978638 137978638 T G snp 161.77 0/1 99 25 19 6 0.24 intronic rs695156 OLFM1 AU NM_014279 exon2 c.14488-3402T>G 0.549521 0.6627 Uncertain 9_137982127_T->C 9 137982127 137982127 T C snp 1413.77 0/1 99 124 58 66 0.53 exonic rs500461 OLFM1 AU synonymous SNV NM_001282611 exon2 c.T237C p.A79A 0.782348 0.6806 0.892434 0.8303 0.7090 Uncertain 9_137982220_-->TGTG 9 137982220 137982220 - TGTG indel 1729.73 0/1 99 93 42 51 0.55 intronic rs562156991 OLFM1 AU NM_001282611 exon2 c.2355+30insTGTG 0.29972 0.1518 0.4850 0.2101 Uncertain 9_137987961_C->T 9 137987961 137987961 C T snp 68.77 0/1 30 4 1 3 0.75 intronic OLFM1 AU NM_001282611 exon3 c.8030+96C>T Uncertain 9_138236212_T->G 9 138236212 138236212 T G snp 1129.77 0/1 99 105 57 48 0.46 exonic rs914397 C9orf62 AU nonsynonymous SNV NM_173520 exon2 c.T418G p.W140G 0.733027 0.7817 0.7744 0.7643 0 D 0.0 P -1.026 T 0.0 T 0.0 T ID=COSM4163520;OCCURENCE=1(thyroid) Pathogenic 9_138376649_T->C 9 138376649 138376649 T C snp 974.77 1/1 72 32 0 32 1.0 exonic rs3748192 PPP1R26 AU nonsynonymous SNV NM_014811 exon4 c.T293C p.V98A 0.418331 0.6528 0.222273 0.3237 0.6592 1 T 0.0 P -0.928 T 0.0 T 0.0 T Pathogenic 9_138376972_A->G 9 138376972 138376972 A G snp 1925.77 1/1 99 68 0 68 1.0 exonic rs3928777 PPP1R26 AU nonsynonymous SNV NM_014811 exon4 c.A616G p.K206E 0.411142 0.6319 0.223368 0.3209 0.6492 1 T 0.0 P -0.968 T 0.0 T 0.0 T Pathogenic 9_138377433_G->A 9 138377433 138377433 G A snp 994.77 0/1 99 87 44 43 0.49 exonic rs3827827 PPP1R26 AU synonymous SNV NM_014811 exon4 c.G1077A p.A359A 0.19988 0.1141 0.166615 0.1934 0.1427 Uncertain 9_138377657_T->C 9 138377657 138377657 T C snp 1756.77 1/1 99 53 0 53 1.0 exonic rs1808998 PPP1R26 AU nonsynonymous SNV NM_014811 exon4 c.T1301C p.M434T 0.464058 0.6825 0.266569 0.3380 0.6849 1 T 0.0 P -0.959 T 0.0 T 0.0 T ID=COSM3763739;OCCURENCE=1(large_intestine) Pathogenic 9_138377853_A->G 9 138377853 138377853 A G snp 3118.77 1/1 99 116 0 116 1.0 exonic rs2004074 PPP1R26 AU synonymous SNV NM_014811 exon4 c.A1497G p.V499V 0.427516 0.6577 0.235660 0.3213 0.6617 Uncertain 9_138377915_G->A 9 138377915 138377915 G A snp 787.77 0/1 99 51 24 27 0.53 exonic rs3748195 PPP1R26 AU nonsynonymous SNV NM_014811 exon4 c.G1559A p.R520H 0.139577 0.4623 0.012302 0.0829 0.4570 0.27 T 0.0 P -0.918 T 0.011 T 0.004 T Pathogenic 9_138378856_A->G 9 138378856 138378856 A G snp 674.77 1/1 51 17 0 17 1.0 exonic rs2078266 PPP1R26 AU nonsynonymous SNV NM_014811 exon4 c.A2500G p.N834D 0.894169 0.7837 0.871325 0.8498 0.7848 1 T 0.000 P -0.983 T 0.0 T 0.0 T ID=COSM4163521;OCCURENCE=1(thyroid) Pathogenic 9_138379002_T->G 9 138379002 138379002 T G snp 1642.77 1/1 99 60 0 60 1.0 exonic rs1975518 PPP1R26 AU synonymous SNV NM_014811 exon4 c.T2646G p.P882P 0.997804 1 0.985641 0.9871 0.9998 Uncertain 9_138379059_G->T 9 138379059 138379059 G T snp 1255.77 0/1 99 98 44 54 0.55 exonic rs3748198 PPP1R26 AU synonymous SNV NM_014811 exon4 c.G2703T p.L901L 0.18131 0.4464 0.048026 0.1148 0.4359 Uncertain 9_138387483_G->A 9 138387483 138387483 G A snp 1840.77 1/1 99 65 0 65 1.0 intronic rs2274650 C9orf116 AU NM_001048265 exon1 c.189+22G>A 0.511581 0.8353 0.404198 0.4676 0.8395 Uncertain 9_138391299_T->A 9 138391299 138391299 T A snp 3988.77 1/1 99 152 0 152 1.0 intronic rs7037251 C9orf116 AU NM_001048265 exon3 c.4282-255T>A 0.579273 0.8343 0.4699 0.8496 0.000 P Uncertain 9_138391517_A->C 9 138391517 138391517 A C snp 1837.77 1/1 99 64 0 64 1.0 intronic rs2274651 C9orf116 AU NM_001048265 exon3 c.4282-37A>C 0.515375 0.8333 0.402722 0.4424 0.8217 Uncertain 9_138391774_C->T 9 138391774 138391774 C T snp 943.77 1/1 69 32 0 32 1.0 upstream rs2274652 C9orf116 AU 0.704073 0.9018 Uncertain 9_138438189_G->T 9 138438189 138438189 G T snp 77.28 1/1 9 3 0 3 1.0 intronic rs1753863 OBP2A AU NM_014582 exon1 c.72+91G>T 0.584665 0.7351 Uncertain 9_138439005_A->C 9 138439005 138439005 A C snp 390.77 1/1 30 12 0 12 1.0 intronic rs504061 OBP2A AU NM_014582 exon3 c.997-18A>C 0.83107 0.9891 0.757305 0.7787 0.9727 Uncertain 9_138439086_T->A 9 138439086 138439086 T A snp 302.77 0/1 99 27 14 13 0.48 exonic rs492193 OBP2A AU nonsynonymous SNV NM_001293189 exon3 c.T269A p.F90Y 0.00958466 0.0079 0.0193 0.0083 0.9 T 1 N -1.002 T 0.049 T 0.08 T ID=COSM3763740,COSM3763741;OCCURENCE=1(large_intestine) Pathogenic 9_138440525_C->G 9 138440525 138440525 C G snp 1945.77 1/1 99 64 0 64 1.0 exonic rs2590500 OBP2A AU nonsynonymous SNV NM_001293189 exon5 c.C425G p.P142R 0.486621 0.6974 0.308059 0.4608 0.6779 0.52 T 0.0 P -0.959 T 0.994 D 0.937 D ID=COSM4163522;OCCURENCE=1(thyroid) Pathogenic 9_138440527_T->C 9 138440527 138440527 T C snp 1972.77 1/1 99 66 0 66 1.0 exonic rs2590501 OBP2A AU nonsynonymous SNV NM_001293193 exon4 c.T293C p.L98S 0.486621 0.6974 0.305628 0.4608 0.6773 0.17 T 0.0 P -0.952 T 0.0 T 0.0 T ID=COSM4163523;OCCURENCE=1(thyroid) Pathogenic 9_138440641_T->C 9 138440641 138440641 T C snp 7441.77 1/1 99 250 0 250 1.0 exonic rs2853652 OBP2A AU nonsynonymous SNV NM_001293193 exon4 c.T407C p.M136T 0.842652 0.9901 0.768533 0.7778 0.9725 1 T 0.0 P -1.058 T 0.0 T 0.0 T Pathogenic 9_138440726_C->T 9 138440726 138440726 C T snp 5658.77 1/1 99 209 0 209 1.0 intronic rs3827838 OBP2A AU NM_014582 exon5 c.2629+71C>T 0.672125 0.8879 Uncertain 9_138440728_A->G 9 138440728 138440728 A G snp 5433.77 1/1 99 202 1 201 1.0 intronic rs3827839 OBP2A AU NM_014582 exon5 c.2629+73A>G 0.807708 0.9702 Uncertain 9_138440756_G->A 9 138440756 138440756 G A snp 4264.77 1/1 99 146 0 146 1.0 intronic rs3827841 OBP2A AU NM_014582 exon5 c.2629+101G>A 0.702077 0.8889 Uncertain 9_138440839_C->G 9 138440839 138440839 C G snp 258.8 1/1 21 7 0 7 1.0 intronic rs28634615 OBP2A AU NM_014582 exon5 c.2629+184C>G 0.83766 0.9841 Uncertain 9_138441081_C->T 9 138441081 138441081 C T snp 1247.77 1/1 93 57 1 56 0.98 intronic rs2590502 OBP2A AU NM_014582 exon6 c.3127-72C>T 0.827077 0.9871 Uncertain 9_138453641_C->T 9 138453641 138453641 C T snp 2097.77 1/1 99 78 0 78 1.0 UTR5 rs3748205 PAEP AU 0.265775 0.502 0.107361 0.1719 0.5339 Uncertain 9_138453811_A->G 9 138453811 138453811 A G snp 1043.77 1/1 75 34 0 34 1.0 intronic rs697448 PAEP AU NM_002571 exon1 c.96+68A>G 1 1 Uncertain 9_138454646_C->G 9 138454646 138454646 C G snp 3140.77 1/1 99 117 0 117 1.0 intronic rs3748208 PAEP AU NM_002571 exon3 c.1018-19C>G 0.261382 0.504 0.100261 0.1515 0.5278 Uncertain 9_138454806_G->A 9 138454806 138454806 G A snp 1137.77 1/1 84 38 0 38 1.0 intronic rs3748209 PAEP AU NM_002571 exon3 c.1092+67G>A 0.260982 0.503 0.1528 0.5305 Uncertain 9_138456155_C->A 9 138456155 138456155 C A snp 847.77 1/1 63 26 0 26 1.0 exonic rs3748210 PAEP AU nonsynonymous SNV NM_001018049 exon4 c.C376A p.Q126K 0.292532 0.497 0.125175 0.1537 0.4867 0.89 T 0.0 P -0.936 T 0.0 T 0.0 T Pathogenic 9_138457209_C->G 9 138457209 138457209 C G snp 2567.77 1/1 99 89 0 89 1.0 intronic rs2070909 PAEP AU NM_002571 exon5 c.3608-46C>G 0.265176 0.5099 0.101799 0.1577 0.5359 0.01 T 0.0 P -0.919 T Uncertain 9_138457476_T->- 9 138457476 138457476 T - indel 3650.73 1/1 99 85 0 85 1.0 intronic rs3831489 PAEP AU NM_002571 exon5 c.3713+116delT 0.265775 0.5268 0.1516 0.5413 Uncertain 9_138458261_G->C 9 138458261 138458261 G C snp 258.8 1/1 21 7 0 7 1.0 intronic rs783488 PAEP AU NM_002571 exon7 c.4751-137G>C 0.640575 0.745 Uncertain 9_138458265_T->C 9 138458265 138458265 T C snp 373.77 1/1 30 10 0 10 1.0 intronic rs2780283 PAEP AU NM_002571 exon7 c.4751-133T>C 0.640575 0.745 Uncertain 9_138458462_C->T 9 138458462 138458462 C T snp 5334.77 1/1 99 201 0 201 1.0 UTR3 rs3748211 PAEP AU 0.266573 0.5248 Uncertain 9_138458570_C->T 9 138458570 138458570 C T snp 4140.77 1/1 99 146 0 146 1.0 UTR3 rs3748212 PAEP AU 0.267372 0.5258 Uncertain 9_138516531_G->C 9 138516531 138516531 G C snp 745.77 0/1 99 45 19 26 0.58 intronic rs7466817 GLT6D1 AU NM_182974 exon1 c.574+15G>C 0.724042 0.7946 0.673186 0.6949 0.8199 Uncertain 9_138517853_G->C 9 138517853 138517853 G C snp 841.77 1/1 60 31 0 31 1.0 intronic rs1333241 GLT6D1 AU NM_182974 exon2 c.1972-61G>C 0.80631 0.9435 Uncertain 9_138518010_A->G 9 138518010 138518010 A G snp 1712.77 1/1 99 68 0 68 1.0 exonic rs1333240 GLT6D1 AU synonymous SNV NM_182974 exon4 c.T162C p.P54P 0.971645 0.9921 0.972793 0.9920 0.9984 ID=COSM4163524;OCCURENCE=1(thyroid) Uncertain 9_138518114_G->A 9 138518114 138518114 G A snp 178.77 0/1 99 25 16 9 0.36 intronic rs11103106 GLT6D1 AU NM_182974 exon2 c.2110+62G>A 0.522564 0.5982 Uncertain 9_138518177_C->T 9 138518177 138518177 C T snp 225.84 1/1 18 8 0 8 1.0 intronic rs6537902 GLT6D1 AU NM_182974 exon2 c.2110+125C>T 0.975439 1 Uncertain 9_138523332_C->A 9 138523332 138523332 C A snp 5675.77 1/1 99 213 0 213 1.0 intronic rs1333234 GLT6D1 AU NM_182974 exon3 c.7382+8C>A 0.808906 0.9435 0.739568 0.7540 0.9561 Uncertain 9_138523411_C->T 9 138523411 138523411 C T snp 3247.77 1/1 99 109 0 109 1.0 intronic rs1333233 GLT6D1 AU NM_182974 exon3 c.7382+87C>T 0.808706 0.9435 Uncertain 9_138555161_G->A 9 138555161 138555161 G A snp 1803.77 0/1 99 155 84 71 0.46 upstream rs10776838 LCN9 AU 0.119609 0.1706 0.146629 0.1592 0.1526 Uncertain 9_138556052_G->A 9 138556052 138556052 G A snp 1291.77 0/1 99 120 61 59 0.49 exonic rs74558273 LCN9 AU synonymous SNV NM_001001676 exon2 c.G141A p.L47L 0.0101837 0.0437 0.000502 0.0067 0.0576 Uncertain 9_138557256_C->T 9 138557256 138557256 C T snp 2261.77 1/1 99 75 0 75 1.0 intronic rs492708 LCN9 AU NM_001001676 exon4 c.2034+55C>T 0.950479 1 Uncertain 9_138586198_G->A 9 138586198 138586198 G A snp 3539.77 1/1 99 118 0 118 1.0 intronic rs572335 SOHLH1 AU NM_001101677 exon2 c.790-34G>A 0.85623 0.9712 0.832615 0.9096 0.9783 Uncertain 9_138586309_A->G 9 138586309 138586309 A G snp 5806.77 1/1 99 218 0 218 1.0 splicing rs484524 SOHLH1 AU NM_001101677 exon2 c.861+6A>G 0.863019 0.9742 0.840357 0.9162 0.9801 Pathogenic 9_138586457_T->C 9 138586457 138586457 T C snp 968.77 1/1 72 29 0 29 1.0 intronic rs548911 SOHLH1 AU NM_001101677 exon2 c.861+154T>C 0.545927 0.874 Uncertain 9_138586854_C->T 9 138586854 138586854 C T snp 99.28 1/1 9 3 0 3 1.0 intronic rs3118655 SOHLH1 AU NM_001101677 exon3 c.1453-41C>T 0.874401 0.9712 0.870172 0.9217 0.9793 Uncertain 9_138586966_G->A 9 138586966 138586966 G A snp 1452.77 1/1 99 57 0 57 1.0 exonic rs3119932 SOHLH1 AU nonsynonymous SNV NM_001101677 exon6 c.C805T p.P269S 0.879992 0.9712 0.872286 0.9238 0.9797 0.7 T 0.0 P -1.030 T 0.02 T 0.01 T ID=COSM3763746,COSM3763745;OCCURENCE=1(large_intestine),1(thyroid) Pathogenic 9_138586967_C->A 9 138586967 138586967 C A snp 1510.77 1/1 99 58 0 58 1.0 exonic rs3119933 SOHLH1 AU synonymous SNV NM_001101677 exon6 c.G804T p.G268G 0.879792 0.9712 0.869453 0.9230 0.9794 ID=COSM3763747,COSM3763748;OCCURENCE=1(large_intestine),1(thyroid) Uncertain 9_138587203_A->G 9 138587203 138587203 A G snp 622.77 1/1 48 18 0 18 1.0 intronic rs2769033 SOHLH1 AU NM_001101677 exon3 c.1667+94A>G 0.938498 0.9742 Uncertain 9_138587220_T->C 9 138587220 138587220 T C snp 345.78 1/1 27 10 0 10 1.0 intronic rs2483364 SOHLH1 AU NM_001101677 exon3 c.1667+111T>C 0.916134 0.9742 Uncertain 9_138589985_A->G 9 138589985 138589985 A G snp 56.74 1/1 6 2 0 2 1.0 intronic rs505391 SOHLH1 AU NM_001101677 exon6 c.4732-189A>G 0.914936 0.9732 Uncertain 9_138590138_T->C 9 138590138 138590138 T C snp 3016.77 1/1 99 106 0 106 1.0 intronic rs506498 SOHLH1 AU NM_001101677 exon6 c.4732-36T>C 0.903754 0.9712 0.892572 0.9334 0.9785 Uncertain 9_138590347_C->T 9 138590347 138590347 C T snp 3508.77 1/1 99 124 0 124 1.0 intronic rs529976 SOHLH1 AU NM_001101677 exon6 c.4880+25C>T 0.867013 0.9712 0.845687 0.9179 0.9786 Uncertain 9_138590680_G->C 9 138590680 138590680 G C snp 438.77 1/1 33 13 0 13 1.0 intronic rs474061 SOHLH1 AU NM_001101677 exon7 c.5398-160G>C 0.808906 0.6627 Uncertain 9_138590928_C->T 9 138590928 138590928 C T snp 1169.77 1/1 84 41 0 41 1.0 exonic rs471525 SOHLH1 AU nonsynonymous SNV NM_001101677 exon2 c.G110A p.R37Q 0.808107 0.6627 0.880680 0.8792 0.6921 1 T 0.0 P -0.964 T 0.001 T 0.0 T ID=COSM3763750,COSM3763749;OCCURENCE=1(large_intestine) Pathogenic 9_138591230_C->T 9 138591230 138591230 C T snp 4770.77 1/1 99 184 0 184 1.0 intronic rs558113 SOHLH1 AU NM_001101677 exon8 c.5806-18C>T 0.808506 0.6627 0.871880 0.8714 0.6702 Uncertain 9_138591266_A->G 9 138591266 138591266 A G snp 4633.77 1/1 99 173 0 173 1.0 exonic rs559326 SOHLH1 AU synonymous SNV NM_001101677 exon1 c.T48C p.P16P 0.813898 0.6667 0.877773 0.8810 0.6747 ID=COSM4163527,COSM4163528;OCCURENCE=1(thyroid) Uncertain 9_138594266_-->C 9 138594266 138594266 - C indel 366.73 0/1 99 45 26 19 0.42 intronic rs397745997 KCNT1 AD NM_020822 exon1 c.110+52insC 0.847843 0.8641 0.857522 0.9032 0.8628 Uncertain 9_138606581_-->GG 9 138606581 138606581 - GG indel 8983.73 1/1 99 228 0 228 1.0 intronic rs141291153 KCNT1 AD NM_020822 exon2 c.12462+15insGG 0.296925 0.247 0.237947 0.2755 0.2691 Uncertain 9_138606586_T->C 9 138606586 138606586 T C snp 5110.77 1/1 99 203 0 203 1.0 intronic rs2385007 KCNT1 AD NM_020822 exon2 c.12462+20T>C 0.316294 0.2718 0.100275 0.3039 0.2901 Uncertain 9_138634583_C->G 9 138634583 138634583 C G snp 1473.77 0/1 99 146 81 65 0.45 intronic rs36105557 KCNT1 AD NM_020822 exon3 c.47839-7360C>G 0.130192 0.1111 0.1481 0.1151 Uncertain 9_138641780_A->G 9 138641780 138641780 A G snp 68.77 0/1 30 4 1 3 0.75 intronic rs11103161 KCNT1 AD NM_020822 exon3 c.47839-163A>G 0.184305 0.1081 Uncertain 9_138642912_C->A 9 138642912 138642912 C A snp 541.77 0/1 99 56 29 27 0.48 intronic rs10122976 KCNT1 AD NM_020822 exon4 c.48783+25C>A 0.54393 0.5119 0.492379 0.4748 0.5077 Uncertain 9_138644203_T->C 9 138644203 138644203 T C snp 2321.77 0/1 99 213 109 104 0.49 intronic rs10735239 KCNT1 AD NM_020822 exon4 c.48783+1316T>C 0.526957 0.5129 0.5442 0.5 Uncertain 9_138646873_A->G 9 138646873 138646873 A G snp 291.77 0/1 99 20 9 11 0.55 intronic rs34140289 KCNT1 AD NM_020822 exon6 c.52862-93A>G 0.118411 0.1071 Uncertain 9_138648829_C->G 9 138648829 138648829 C G snp 252.77 0/1 99 14 5 9 0.64 intronic rs13286338 KCNT1 AD NM_020822 exon7 c.54674+51C>G 0.359412 0.0717 0.0518 Uncertain 9_138648837_A->C 9 138648837 138648837 A C snp 63.77 0/1 92 8 5 3 0.38 intronic rs59909130 KCNT1 AD NM_020822 exon7 c.54674+59A>C Uncertain 9_138650121_A->G 9 138650121 138650121 A G snp 678.77 0/1 99 57 34 23 0.4 intronic rs10776842 KCNT1 AD NM_020822 exon10 c.56155-138A>G Uncertain 9_138656783_T->C 9 138656783 138656783 T C snp 815.77 0/1 99 48 21 27 0.56 intronic rs55816769 KCNT1 AD NM_020822 exon12 c.62772-93T>C 0.207268 0.0476 Uncertain 9_138656838_A->G 9 138656838 138656838 A G snp 1715.77 0/1 99 140 68 72 0.51 intronic rs41298365 KCNT1 AD NM_020822 exon12 c.62772-38A>G 0.208067 0.0476 0.237949 0.2324 0.0463 Uncertain 9_138657023_C->T 9 138657023 138657023 C T snp 2506.77 0/1 99 198 97 101 0.51 exonic rs372491855 KCNT1 AD synonymous SNV NM_020822 exon12 c.C1182T p.Y394Y 0.000399361 0.002 0.0004 0.0044 Uncertain 9_138657053_T->G 9 138657053 138657053 T G snp 1569.77 0/1 99 144 74 70 0.49 intronic rs58604946 KCNT1 AD NM_020822 exon12 c.62937+12T>G 0.207867 0.0476 0.239582 0.2176 0.0397 Uncertain 9_138657171_T->C 9 138657171 138657171 T C snp 105.77 0/1 99 8 4 4 0.5 intronic rs59741818 KCNT1 AD NM_020822 exon12 c.62937+130T>C 0.207268 0.0476 Uncertain 9_138657635_A->G 9 138657635 138657635 A G snp 121.77 0/1 99 26 19 7 0.27 intronic rs10117578 KCNT1 AD NM_020822 exon13 c.63502+29A>G 0.20647 0.0476 0.215435 0.1829 0.0347 Uncertain 9_138657687_G->A 9 138657687 138657687 G A snp 76.77 0/1 99 13 8 5 0.38 intronic rs10120407 KCNT1 AD NM_020822 exon13 c.63502+81G>A 0.206869 0.0476 Uncertain 9_138660288_G->A 9 138660288 138660288 G A snp 82.77 0/1 99 7 3 4 0.57 intronic rs35591318 KCNT1 AD NM_020822 exon14 c.66351-167G>A 0.038139 0.1369 Uncertain 9_138660879_A->G 9 138660879 138660879 A G snp 296.77 0/1 99 28 14 14 0.5 intronic rs11103179 KCNT1 AD NM_020822 exon15 c.66679+96A>G 0.184305 0.0466 Uncertain 9_138660946_T->C 9 138660946 138660946 T C snp 37.77 0/1 66 9 5 4 0.44 intronic rs11103180 KCNT1 AD NM_020822 exon15 c.66679+163T>C 0.178514 0.0476 Uncertain 9_138662309_A->G 9 138662309 138662309 A G snp 2142.77 0/1 99 183 92 91 0.5 intronic rs10776844 KCNT1 AD NM_020822 exon17 c.68189+16A>G 0.744209 0.7113 0.728084 0.7126 0.7044 Uncertain 9_138662360_T->G 9 138662360 138662360 T G snp 1121.77 0/1 99 81 43 38 0.47 intronic rs56157148 KCNT1 AD NM_020822 exon17 c.68189+67T>G 0.15016 0.0466 Uncertain 9_138662962_G->A 9 138662962 138662962 G A snp 481.77 0/1 99 34 19 15 0.44 intronic rs7869884 KCNT1 AD NM_020822 exon18 c.68837+21G>A 0.146965 0.0556 0.172733 0.1995 0.0698 Uncertain 9_138669261_G->A 9 138669261 138669261 G A snp 2350.77 0/1 99 195 99 96 0.49 exonic rs914428 KCNT1 AD synonymous SNV NM_020822 exon21 c.G2427A p.T809T 0.652157 0.5744 0.634938 0.6687 0.5981 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000117363.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 9_138684115_T->A 9 138684115 138684115 T A snp 773.77 0/1 99 64 37 27 0.42 UTR3 rs139807438 KCNT1 AD 0.00279553 0.0079 Uncertain 9_138706844_A->G 9 138706844 138706844 A G snp 56.77 0/1 85 12 9 3 0.25 intronic rs3739465 CAMSAP1 AU NM_015447 exon2 c.3788-98A>G 0.420527 0.4395 Uncertain 9_138707727_C->G 9 138707727 138707727 C G snp 2572.77 1/1 99 93 0 93 1.0 intronic rs913342 CAMSAP1 AU NM_015447 exon3 c.4581-8C>G 0.877995 0.871 0.868215 0.8320 0.8813 Uncertain 9_138714620_G->A 9 138714620 138714620 G A snp 3245.77 0/1 99 250 127 123 0.49 exonic rs78774780 CAMSAP1 AU synonymous SNV NM_015447 exon11 c.C1887T p.S629S 0.0151757 0.0714 0.000461 0.0069 0.0711 Uncertain 9_138754582_A->C 9 138754582 138754582 A C snp 610.77 1/1 45 18 0 18 1.0 intronic rs2039330 CAMSAP1 AU NM_015447 exon13 c.51300+128A>C 0.995807 1 Uncertain 9_138816787_A->G 9 138816787 138816787 A G snp 174.9 1/1 15 5 0 5 1.0 intergenic rs4842046 CAMSAP1 AU 0.634984 0.6171 Uncertain 9_138816796_T->C 9 138816796 138816796 T C snp 267.8 1/1 21 8 0 8 1.0 intergenic rs4842047 CAMSAP1 AU 0.616214 0.621 Uncertain 9_138816898_T->C 9 138816898 138816898 T C snp 1564.77 1/1 99 56 0 56 1.0 intergenic rs4842048 CAMSAP1 AU 0.971246 1 Uncertain 9_138816906_T->C 9 138816906 138816906 T C snp 1822.77 1/1 99 64 0 64 1.0 intergenic rs4842049 CAMSAP1 AU 0.901358 0.8353 Uncertain 9_138817000_T->C 9 138817000 138817000 T C snp 1287.77 0/1 99 116 59 57 0.49 intergenic rs11103224 CAMSAP1 AU 0.251997 0.4494 Uncertain 9_138817003_C->G 9 138817003 138817003 C G snp 1260.77 0/1 99 117 59 58 0.5 intergenic rs11103225 CAMSAP1 AU 0.252196 0.4494 Uncertain 9_138817142_C->T 9 138817142 138817142 C T snp 144.77 0/1 99 16 10 6 0.38 intergenic rs11103226 CAMSAP1 AU 0.438898 0.4772 Uncertain 9_138817178_C->A 9 138817178 138817178 C A snp 203.84 1/1 18 8 0 8 1.0 intergenic rs10776854 CAMSAP1 AU 0.675319 0.8591 Uncertain 9_138825117_A->C 9 138825117 138825117 A C snp 852.77 1/1 66 24 0 24 1.0 UTR3 rs6569 UBAC1 AU 0.51278 0.498 Uncertain 9_138837113_T->C 9 138837113 138837113 T C snp 551.77 1/1 42 16 0 16 1.0 intronic rs10776856 UBAC1 AU NM_016172 exon4 c.11851+17T>C 0.513578 0.495 0.504921 0.5432 0.5124 Uncertain 9_138837958_C->T 9 138837958 138837958 C T snp 3800.77 1/1 99 123 0 123 1.0 intronic rs2297691 UBAC1 AU NM_016172 exon5 c.12598+115C>T 0.787141 0.7817 Uncertain 9_138838140_T->C 9 138838140 138838140 T C snp 2128.77 1/1 99 73 0 73 1.0 exonic rs7028495 UBAC1 AU synonymous SNV NM_016172 exon5 c.A519G p.A173A 0.982029 1 0.979625 0.9942 1 Uncertain 9_138839888_C->T 9 138839888 138839888 C T snp 1331.77 1/1 99 40 0 40 1.0 intronic rs2297689 UBAC1 AU NM_016172 exon7 c.14506+137C>T 0.727436 0.7798 Uncertain 9_138898893_C->G 9 138898893 138898893 C G snp 1250.77 1/1 90 47 0 47 1.0 UTR3 rs4842070 NACC2 AU 0.953874 0.9722 Uncertain 9_138903635_G->A 9 138903635 138903635 G A snp 7741.77 1/1 99 250 1 249 1.0 exonic rs9753 NACC2 AU synonymous SNV NM_144653 exon6 c.C1491T p.A497A 0.148363 0.2202 0.092031 0.1946 0.3088 ID=COSM3750161;OCCURENCE=1(thyroid),1(large_intestine) Uncertain 9_138905884_T->C 9 138905884 138905884 T C snp 721.77 1/1 54 27 0 27 1.0 intronic rs11103273 NACC2 AU NM_144653 exon3 c.2454+69T>C 0.97484 1 Uncertain 9_139008803_T->G 9 139008803 139008803 T G snp 1175.77 0/1 99 98 46 52 0.53 UTR5 rs3739466 C9orf69 AU 0.448283 0.376 0.4759 0.5 ID=COSM4163531;OCCURENCE=1(thyroid) Uncertain 9_139091797_A->C 9 139091797 139091797 A C snp 1593.77 0/1 99 112 53 59 0.53 intronic rs1924521 LHX3 AR NM_014564 exon4 c.2556+71A>C 0.875 0.8423 0.7974 0.8458 Uncertain 9_139094740_G->T 9 139094740 139094740 G T snp 290.77 0/1 99 32 19 13 0.41 intronic rs11103376 LHX3 AR NM_014564 exon6 c.5621-51G>T 0.0357428 0.1498 Uncertain 9_139137204_G->A 9 139137204 139137204 G A snp 124.03 1/1 12 5 0 5 1.0 intronic QSOX2 AU NM_181701 exon12 c.36748-117G>A 0.552117 0.6696 Uncertain 9_139137626_C->T 9 139137626 139137626 C T snp 1492.77 1/1 99 62 0 62 1.0 exonic QSOX2 AU synonymous SNV NM_181701 exon1 c.G24A p.V8V 0.541134 0.6905 0.5 . ID=COSM4163533;OCCURENCE=2(thyroid) Uncertain 9_139142710_G->A 9 139142710 139142710 G A snp 2753.77 1/1 99 88 0 88 1.0 intergenic QSOX2 AU 0.890775 0.7768 0.9046 0.8551 Uncertain 9_139142808_T->C 9 139142808 139142808 T C snp 3603.77 1/1 99 137 1 136 0.99 intergenic QSOX2 AU 0.814896 0.9444 0.9226 0.9627 0 D -1.057 T Uncertain 9_139222174_T->C 9 139222174 139222174 T C snp 232.84 1/1 18 10 0 10 1.0 exonic rs28495820 GPSM1 AU nonsynonymous SNV NM_015597 exon1 c.T23C p.V8A 1 . 1 T 1.000 P -0.585 T 0.0 T 0.0 T ID=COSM4163535;OCCURENCE=1(thyroid) Pathogenic 9_139230292_T->G 9 139230292 139230292 T G snp 373.77 1/1 30 10 0 10 1.0 intronic GPSM1 AU NM_015597 exon3 c.8271-130T>G 0.994209 1 Uncertain 9_139243334_T->A 9 139243334 139243334 T A snp 1500.77 1/1 99 57 0 57 1.0 intergenic GPSM1 AU 0.806909 0.9444 Uncertain 9_139249991_T->C 9 139249991 139249991 T C snp 695.77 1/1 54 18 0 18 1.0 intergenic GPSM1 AU 0.765176 0.9464 Uncertain 9_139252495_G->A 9 139252495 139252495 G A snp 5013.77 1/1 99 194 0 194 1.0 intergenic GPSM1 AU 0.750799 0.9454 0.701907 0.6864 0.9506 Uncertain 9_139252499_C->A 9 139252499 139252499 C A snp 2444.77 0/1 99 193 85 108 0.56 intergenic GPSM1 AU 0.000599042 0.003 0.0003 0.0035 0 D 1 D 1.052 D 1.0 D 0.999 D Uncertain 9_139258465_C->T 9 139258465 139258465 C T snp 1822.77 0/1 99 146 73 73 0.5 UTR3 rs534010460 CARD9 AR 0.000399361 0.002 0.0001 0.0046 Uncertain 9_139273402_C->T 9 139273402 139273402 C T snp 2335.77 1/1 99 82 0 82 1.0 exonic rs3812567 SNAPC4 AU synonymous SNV NM_003086 exon21 c.G2877A p.A959A 0.780751 0.8452 0.772678 0.7190 0.8541 ID=COSM4163542;OCCURENCE=1(thyroid) Uncertain 9_139290334_T->C 9 139290334 139290334 T C snp 31.77 0/1 60 12 7 5 0.42 intronic rs139871801 SNAPC4 AU NM_003086 exon21 c.19415+112T>C 0.00359425 0.0109 Uncertain 9_139302094_C->G 9 139302094 139302094 C G snp 401.77 1/1 30 13 0 13 1.0 intronic rs4880155 SDCCAG3 AU NM_001039707 exon6 c.4774+81C>G 0.930112 0.998 Uncertain 9_139333050_CCCT->- 9 139333050 139333053 CCCT - indel 3590.73 1/1 99 54 0 54 1.0 intronic rs398012577 INPP5E AR NM_019892 exon10 c.8933-9_8933-6delCCCT 0.96226 1 0.926983 0.9299 0.9864 Uncertain 9_139360354_A->G 9 139360354 139360354 A G snp 1667.77 1/1 99 58 0 58 1.0 intronic rs3124590 SEC16A AU NM_014866 exon25 c.24207-59A>G 0.988019 1 Uncertain 9_139390397_C->T 9 139390397 139390397 C T snp 54.74 1/1 6 2 0 2 1.0 UTR3 rs3124591 NOTCH1 AD 0.741214 0.9474 Uncertain 9_139391636_G->A 9 139391636 139391636 G A snp 5015.77 1/1 99 184 0 184 1.0 exonic rs2229974 NOTCH1 AD synonymous SNV NM_017617 exon34 c.C6555T p.D2185D 0.695088 0.9494 0.581267 0.6187 0.9474 ID=COSM3763782,COSM3763781;OCCURENCE=1(large_intestine) Uncertain 9_139393162_G->A 9 139393162 139393162 G A snp 135.03 1/1 12 4 0 4 1.0 intronic rs3124592 NOTCH1 AD NM_017617 exon2 c.2828-188G>A 0.647764 0.9464 Uncertain 9_139393175_A->G 9 139393175 139393175 A G snp 248.8 1/1 21 7 0 7 1.0 intronic rs3124593 NOTCH1 AD NM_017617 exon2 c.2828-175A>G 0.801118 0.9583 Uncertain 9_139396408_A->G 9 139396408 139396408 A G snp 4165.77 1/1 99 143 0 143 1.0 intronic rs3124594 NOTCH1 AD NM_017617 exon5 c.5843+43A>G 0.741613 0.9226 0.611038 0.5920 0.9135 Uncertain 9_139396690_C->T 9 139396690 139396690 C T snp 2666.77 1/1 99 83 0 83 1.0 intronic rs75842134 NOTCH1 AD NM_017617 exon7 c.6201-33C>T 0.161741 0.5982 0.033903 0.1144 0.6556 Uncertain 9_139397707_G->A 9 139397707 139397707 G A snp 5110.77 1/1 99 180 0 180 1.0 exonic rs10521 NOTCH1 AD synonymous SNV NM_017617 exon27 c.C5094T p.D1698D 0.553514 0.9018 0.408039 0.4443 0.8860 ID=COSM33747;OCCURENCE=11(haematopoietic_and_lymphoid_tissue),1(lung),5(large_intestine) Uncertain 9_139400406_C->T 9 139400406 139400406 C T snp 418.77 1/1 33 12 1 11 0.92 intronic rs11145764 NOTCH1 AD NM_017617 exon10 c.9811+73C>T 0.570487 0.9048 Uncertain 9_139400904_C->T 9 139400904 139400904 C T snp 185.9 1/1 15 6 0 6 1.0 intronic rs4880098 NOTCH1 AD NM_017617 exon11 c.10456-74C>T 0.570887 0.9048 Uncertain 9_139401504_G->A 9 139401504 139401504 G A snp 180.9 1/1 15 6 0 6 1.0 intronic rs3124596 NOTCH1 AD NM_017617 exon12 c.10903+79G>A 0.683906 0.9067 Uncertain 9_139402663_T->C 9 139402663 139402663 T C snp 2510.77 1/1 99 81 0 81 1.0 intronic rs3124597 NOTCH1 AD NM_017617 exon15 c.12161-20T>C 0.767173 0.9137 0.658368 0.6351 0.8956 Uncertain 9_139402908_T->C 9 139402908 139402908 T C snp 1113.77 1/1 81 35 0 35 1.0 intronic rs3812603 NOTCH1 AD NM_017617 exon15 c.12315+71T>C 0.761382 0.9147 Uncertain 9_139402959_A->G 9 139402959 139402959 A G snp 285.78 1/1 24 8 0 8 1.0 intronic rs3812604 NOTCH1 AD NM_017617 exon15 c.12315+122A>G 0.660543 0.9058 Uncertain 9_139403268_T->C 9 139403268 139403268 T C snp 99.28 1/1 9 3 0 3 1.0 intronic rs3125000 NOTCH1 AD NM_017617 exon16 c.12799-53T>C 0.761981 0.9147 Uncertain 9_139403554_T->C 9 139403554 139403554 T C snp 1167.77 1/1 84 41 0 41 1.0 intronic rs3124598 NOTCH1 AD NM_017617 exon16 c.13001+31T>C 0.764776 0.9167 0.669025 0.6627 0.8997 Uncertain 9_139405261_C->T 9 139405261 139405261 C T snp 3447.77 1/1 99 132 0 132 1.0 splicing rs3125001 NOTCH1 AD NM_017617 exon18 c.14735+4C>T 0.585463 0.872 0.454918 0.4725 0.8708 Pathogenic 9_139405361_A->G 9 139405361 139405361 A G snp 868.77 1/1 66 24 0 24 1.0 intronic rs3125002 NOTCH1 AD NM_017617 exon18 c.14735+104A>G 0.721246 0.8849 Uncertain 9_139405501_A->G 9 139405501 139405501 A G snp 178.9 1/1 15 5 0 5 1.0 intronic rs9411206 NOTCH1 AD NM_017617 exon19 c.15081-102A>G 0.750399 0.8978 Uncertain 9_139407452_C->T 9 139407452 139407452 C T snp 545.77 1/1 42 16 0 16 1.0 intronic rs3812608 NOTCH1 AD NM_017617 exon20 c.16950-20C>T 0.697284 0.8671 0.581521 0.6279 0.8826 Uncertain 9_139407932_A->G 9 139407932 139407932 A G snp 7088.77 1/1 99 249 0 249 1.0 exonic rs2229971 NOTCH1 AD synonymous SNV NM_017617 exon14 c.T2265C p.N755N 0.527756 0.7768 0.397464 0.3977 0.7952 ID=COSM3763788,COSM3763787;OCCURENCE=1(large_intestine) Uncertain 9_139410177_T->C 9 139410177 139410177 T C snp 425.77 1/1 33 14 0 14 1.0 intronic rs3124603 NOTCH1 AD NM_017617 exon24 c.19646+9T>C 0.58726 0.8323 0.396089 0.4361 0.8007 Uncertain 9_139410424_A->G 9 139410424 139410424 A G snp 2547.77 1/1 99 89 0 89 1.0 intronic rs3125006 NOTCH1 AD NM_017617 exon25 c.19910-8A>G 0.883986 0.9147 0.873295 0.8704 0.9382 Uncertain 9_139410555_G->A 9 139410555 139410555 G A snp 1454.77 0/1 99 179 105 74 0.41 intronic rs150834418 NOTCH1 AD NM_017617 exon25 c.20024+9G>A 0.00119808 0.004 0.000244 0.0003 0.0019 Uncertain 9_139410589_A->G 9 139410589 139410589 A G snp 3503.77 1/1 99 123 1 122 0.99 intronic rs4880099 NOTCH1 AD NM_017617 exon25 c.20024+43A>G 0.686701 0.8651 0.624431 0.6370 0.8843 Uncertain 9_139410679_T->C 9 139410679 139410679 T C snp 762.77 1/1 60 20 0 20 1.0 intronic rs4880100 NOTCH1 AD NM_017617 exon25 c.20024+133T>C 0.582468 0.8353 Uncertain 9_139411622_G->A 9 139411622 139411622 G A snp 210.84 1/1 18 7 0 7 1.0 intronic rs10781498 NOTCH1 AD NM_017617 exon26 c.21201-101G>A 0.544928 0.8353 Uncertain 9_139411714_T->C 9 139411714 139411714 T C snp 2402.77 1/1 99 78 0 78 1.0 intronic rs11145767 NOTCH1 AD NM_017617 exon26 c.21201-9T>C 0.605431 0.8353 0.427999 0.5481 0.8775 Uncertain 9_139411880_G->A 9 139411880 139411880 G A snp 3795.77 1/1 99 140 0 140 1.0 intronic rs9411254 NOTCH1 AD NM_017617 exon26 c.21315+43G>A 0.525559 0.8353 0.361990 0.4303 0.8351 Uncertain 9_139412073_T->C 9 139412073 139412073 T C snp 222.84 1/1 18 6 0 6 1.0 intronic rs4077029 NOTCH1 AD NM_017617 exon27 c.21681-130T>C 0.745208 0.9276 Uncertain 9_139412197_G->A 9 139412197 139412197 G A snp 3990.77 1/1 99 146 0 146 1.0 intronic rs9411208 NOTCH1 AD NM_017617 exon27 c.21681-6G>A 0.696286 0.9286 0.554432 0.5768 0.9267 Uncertain 9_139418260_A->G 9 139418260 139418260 A G snp 1032.77 0/1 99 88 45 43 0.49 exonic rs4489420 NOTCH1 AD synonymous SNV NM_017617 exon3 c.T312C p.N104N 0.740016 0.8363 0.608668 0.5970 0.8564 ID=COSM1756050;OCCURENCE=2(urinary_tract) Uncertain 9_139440845_G->A 9 139440845 139440845 G A snp 549.77 0/1 99 38 19 19 0.5 upstream rs3013306 MIR4674 AU 0.354233 0.2966 Uncertain 9_139440852_A->G 9 139440852 139440852 A G snp 394.77 0/1 99 26 13 13 0.5 upstream rs3013307 MIR4674 AU 0.553514 0.3224 Uncertain 9_139565150_A->G 9 139565150 139565150 A G snp 4286.77 1/1 99 149 0 149 1.0 intronic rs4636297 EGFL7 AU NM_016215 exon9 c.2667-251A>G 0.694289 0.8135 0.634904 0.6686 0.8587 ID=CR104960;DIS=Reduced expression;TAG=FP;PUB=20621067 FP Uncertain 9_139565480_GGG->- 9 139565480 139565482 GGG - indel 517.82 1/1 17 26 2 24 0.92 intronic rs549481733 EGFL7 AU NM_016215 exon9 c.2732+14_2732+16delGGG 0.0139 0.0812 Uncertain 9_139566778_C->T 9 139566778 139566778 C T snp 1588.77 0/1 99 138 68 70 0.51 UTR3 rs77612807 EGFL7 AU 0.0339457 0.0298 0.030986 0.0121 0.0200 Uncertain 9_139566823_A->G 9 139566823 139566823 A G snp 2047.77 1/1 99 67 0 67 1.0 UTR3 rs1051828 EGFL7 AU 0.879792 0.9415 0.875164 Uncertain 9_139569066_A->G 9 139569066 139569066 A G snp 813.77 1/1 60 24 0 24 1.0 intronic rs9411215 AGPAT2 AR NM_006412 exon2 c.983-120A>G 0.719249 0.8512 Uncertain 9_139572068_C->G 9 139572068 139572068 C G snp 1788.77 1/1 99 65 0 65 1.0 intronic rs2236514 AGPAT2 AR NM_006412 exon5 c.3805+60C>G 0.628195 0.7728 Uncertain 9_139616742_A->G 9 139616742 139616742 A G snp 2585.77 1/1 99 93 1 92 0.99 exonic rs945384 FAM69B AU nonsynonymous SNV NM_152421 exon4 c.A472G p.S158G 0.827077 0.998 0.844125 0.9227 0.9991 0.45 T 0.000 P -0.997 T 0.0 T 0.001 T Pathogenic 9_139616840_G->A 9 139616840 139616840 G A snp 1092.77 1/1 81 34 0 34 1.0 intronic rs3739939 FAM69B AU NM_152421 exon4 c.9636+87G>A 0.515974 0.8135 Uncertain 9_139621168_G->A 9 139621168 139621168 G A snp 1907.77 1/1 99 58 0 58 1.0 ncRNA_exonic rs2275160 SNHG7 AU 0.46226 0.7391 0.433554 0.5024 0.7461 Uncertain 9_139621326_G->A 9 139621326 139621326 G A snp 1257.77 0/1 99 112 61 51 0.46 ncRNA_exonic rs2275159 SNHG7 AU 0.0513179 0.1895 0.003837 0.0282 0.2305 Uncertain 9_139639533_GGCCCACGCACCACACAGCTCCCAACGTGGGCCCCGAGT->- 9 139639533 139639571 GGCCCACGCACCACACAGCTCCCAACGTGGGCCCCGAGT - indel 16650.7 1/1 99 52 0 52 1.0 intronic rs145717467 LCN6 AU NM_198946 exon4 c.508-88_508-50delGGCCCACGCACCACACAGCTCCCAACGTGGGCCCCGAGT 0.54353 0.7103 Uncertain 9_139642961_G->A 9 139642961 139642961 G A snp 3967.77 1/1 99 153 0 153 1.0 ncRNA_exonic rs2811728 LOC100128593 AU 0.445487 0.7103 0.403283 0.5133 0.7298 Uncertain 9_139648721_T->C 9 139648721 139648721 T C snp 52.74 1/1 6 3 0 3 1.0 downstream rs1108607 LCN8 AU 0.533546 0.7133 Uncertain 9_139649580_G->A 9 139649580 139649580 G A snp 980.77 1/1 72 35 0 35 1.0 intronic rs879467 LCN8 AU NM_178469 exon2 c.637-6G>A 0.540136 0.7133 0.575290 0.6704 0.7344 Uncertain 9_139650060_C->A 9 139650060 139650060 C A snp 6465.77 1/1 99 232 0 232 1.0 intronic rs2784068 LCN8 AU NM_178469 exon4 c.1019+92C>A 0.544329 0.7143 Uncertain 9_139650167_G->A 9 139650167 139650167 G A snp 636.77 0/1 99 216 178 38 0.18 intronic rs117603351 LCN8 AU NM_178469 exon4 c.1019+199G>A Uncertain 9_139650595_T->G 9 139650595 139650595 T G snp 3329.77 1/1 99 119 1 118 0.99 intronic rs35874639 LCN8 AU NM_178469 exon5 c.2024-378T>G 0.73143 0.8681 Uncertain 9_139650619_A->G 9 139650619 139650619 A G snp 3379.77 1/1 99 117 0 117 1.0 intronic rs35341952 LCN8 AU NM_178469 exon5 c.2024-354A>G 0.747804 0.8641 Uncertain 9_139651163_-->G 9 139651163 139651163 - G indel 525.73 1/1 42 14 0 14 1.0 intronic rs397799985 LCN8 AU NM_178469 exon5 c.2095+119insG 0.695088 0.8651 Uncertain 9_139652080_C->G 9 139652080 139652080 C G snp 93.28 1/1 9 3 0 3 1.0 intronic rs2784067 LCN8 AU NM_178469 exon7 c.3409-278C>G 0.54373 0.7133 Uncertain 9_139652338_C->G 9 139652338 139652338 C G snp 2617.77 1/1 99 98 0 98 1.0 intronic rs9411272 LCN8 AU NM_178469 exon7 c.3409-20C>G 0.54373 0.7143 0.579194 0.6225 0.7122 Uncertain 9_139652675_A->G 9 139652675 139652675 A G snp 52.74 1/1 6 2 0 2 1.0 UTR5 rs4419903 LCN8 AU 0.536142 0.7044 Uncertain 9_139653055_C->T 9 139653055 139653055 C T snp 819.77 1/1 63 27 0 27 1.0 upstream rs11145867 LCN8 AU 0.512979 0.7014 Uncertain 9_139656618_T->C 9 139656618 139656618 T C snp 258.8 1/1 21 8 0 8 1.0 intronic rs2484658 LCN15 AU NM_203347 exon3 c.369-21T>C 0.999201 0.998 0.999011 0.9996 0.9992 Uncertain 9_139656670_T->C 9 139656670 139656670 T C snp 1190.77 1/1 87 37 0 37 1.0 exonic rs2297722 LCN15 AU nonsynonymous SNV NM_203347 exon5 c.A490G p.K164E 0.733027 0.8512 0.746454 0.7512 0.8627 1 T 0.0 P -1.002 T 0.0 T 0.0 T Pathogenic 9_139656706_A->C 9 139656706 139656706 A C snp 2165.77 1/1 99 80 0 80 1.0 exonic rs2297723 LCN15 AU nonsynonymous SNV NM_203347 exon5 c.T454G p.S152A 0.733027 0.8512 0.747380 0.7517 0.8629 0.38 T 0.0 P -1.037 T 0.0 T 0.0 T ID=COSM4163575;OCCURENCE=1(thyroid) Pathogenic 9_139657834_G->C 9 139657834 139657834 G C snp 1957.77 1/1 99 82 0 82 1.0 exonic rs9987876 LCN15 AU synonymous SNV NM_203347 exon4 c.C393G p.A131A 0.704273 0.8562 0.712748 0.7351 0.8722 Uncertain 9_139658051_G->T 9 139658051 139658051 G T snp 267.8 1/1 21 9 0 9 1.0 intronic rs4880070 LCN15 AU NM_203347 exon5 c.1894-113G>T 0.694489 0.8423 Uncertain 9_139658576_G->C 9 139658576 139658576 G C snp 842.77 1/1 63 24 0 24 1.0 intronic rs4880140 LCN15 AU NM_203347 exon6 c.2191+115G>C 0.742612 0.8492 Uncertain 9_139690840_G->A 9 139690840 139690840 G A snp 1029.77 1/1 75 39 0 39 1.0 UTR5 rs1055995 CCDC183 AU 0.535343 0.8016 0.519918 0.6243 0.8335 Uncertain 9_139697340_G->A 9 139697340 139697340 G A snp 178.9 1/1 15 5 0 5 1.0 intronic rs2811791 CCDC183 AU NM_001039374 exon6 c.6389+102G>A 0.433906 0.5099 Uncertain 9_139699964_T->C 9 139699964 139699964 T C snp 1131.77 1/1 84 38 0 38 1.0 ncRNA_exonic rs2811793 CCDC183-AS1 AU 0.790535 0.8581 Uncertain 9_139700605_T->C 9 139700605 139700605 T C snp 1728.77 1/1 99 58 0 58 1.0 exonic rs2811795 CCDC183 AU nonsynonymous SNV NM_001039374 exon10 c.T1024C p.W342R 0.853435 0.8591 0.852734 0.8371 0.8817 0.48 T 0.000 P -0.844 T 0.0 T 0.0 T ID=COSM4163579;OCCURENCE=1(thyroid) Pathogenic 9_139701108_A->C 9 139701108 139701108 A C snp 6946.77 1/1 99 250 0 250 1.0 exonic rs2254143 CCDC183 AU nonsynonymous SNV NM_001039374 exon11 c.A1262C p.N421T 0.80651 0.8581 0.805069 0.8060 0.8721 0.54 T 0.013 P -1.054 T 0.0 T 0.0 T Pathogenic 9_139701666_G->A 9 139701666 139701666 G A snp 139.03 1/1 12 4 0 4 1.0 ncRNA_intronic rs2784098 CCDC183-AS1 AU 0.788538 0.8581 Uncertain 9_139701983_C->G 9 139701983 139701983 C G snp 2580.77 1/1 99 86 0 86 1.0 ncRNA_intronic rs3739944 CCDC183-AS1 AU 0.851438 0.8611 0.857033 0.8450 0.8922 Uncertain 9_139702908_C->T 9 139702908 139702908 C T snp 319.78 1/1 27 12 0 12 1.0 ncRNA_intronic rs7864908 CCDC183-AS1 AU 0.714657 0.8591 Uncertain 9_139717773_T->C 9 139717773 139717773 T C snp 99.28 1/1 9 3 0 3 1.0 intronic rs2247643 RABL6 AU NM_024718 exon2 c.15328-203T>C 0.844449 0.8591 Uncertain 9_139726239_A->G 9 139726239 139726239 A G snp 3215.74 1/1 99 119 0 119 1.0 exonic rs2811748 RABL6 AU synonymous SNV NM_024718 exon6 c.A525G p.G175G 0.816693 0.755 0.872582 0.8475 0.7711 1.0 P -1.029 T ID=COSM4163586,COSM4163585,COSM4163584;OCCURENCE=2(thyroid) Likely benign 9_139730129_T->C 9 139730129 139730129 T C snp 495.77 1/1 39 18 0 18 1.0 intronic rs2811744 RABL6 AU NM_024718 exon8 c.27545-64T>C 0.783147 0.869 Uncertain 9_139731969_C->T 9 139731969 139731969 C T snp 910.77 1/1 69 25 0 25 1.0 exonic rs2811742 RABL6 AU synonymous SNV NM_024718 exon9 c.C981T p.A327A 0.766573 0.8155 0.801093 0.8049 0.8067 ID=COSM3763796;OCCURENCE=4(large_intestine),3(thyroid) Uncertain 9_139732331_G->C 9 139732331 139732331 G C snp 873.77 1/1 66 28 0 28 1.0 exonic rs2811741 RABL6 AU nonsynonymous SNV NM_024718 exon10 c.G1144C p.E382Q 0.805511 0.8681 0.822365 0.8144 0.8710 0.27 T 0.0 P -1.025 T 0.999 D 0.951 D Pathogenic 9_139739643_T->C 9 139739643 139739643 T C snp 525.77 1/1 39 17 0 17 1.0 exonic rs10870132 C9orf172 AU synonymous SNV NM_001080482 exon1 c.T777C p.P259P 0.789137 0.879 0.7948 0.8866 ID=COSM3750164;OCCURENCE=5(large_intestine),1(thyroid) Uncertain 9_139740008_G->A 9 139740008 139740008 G A snp 1642.77 0/1 99 152 82 70 0.46 exonic C9orf172 AU nonsynonymous SNV NM_001080482 exon1 c.G1142A p.R381K 0.38 T 1 N -1.048 T 0.001 T 0.002 T Pathogenic 9_139744807_A->G 9 139744807 139744807 A G snp 2704.77 1/1 99 71 0 71 1.0 intronic rs872463 PHPT1 AU NM_001287343 exon3 c.1072-147A>G 0.780551 0.881 Uncertain 9_139746992_G->A 9 139746992 139746992 G A snp 3123.77 1/1 99 102 0 102 1.0 intronic rs10123375 MAMDC4 AU NM_206920 exon1 c.46+78G>A 0.773762 0.875 0.771353 Uncertain 9_139749067_C->T 9 139749067 139749067 C T snp 1768.77 1/1 99 61 0 61 1.0 exonic rs7869864 MAMDC4 AU synonymous SNV NM_206920 exon8 c.C873T p.R291R 0.788339 0.875 0.785262 0.7636 0.8807 0.03 T 0.001 P -1.016 T ID=COSM3763798,COSM3763797;OCCURENCE=1(large_intestine) Likely benign 9_139752899_T->G 9 139752899 139752899 T G snp 7482.77 1/1 99 244 0 244 1.0 exonic rs2275156 MAMDC4 AU nonsynonymous SNV NM_206920 exon22 c.T2722G p.W908G 0.764751 0.7448 0.8838 0.68 T 0.001 P -1.019 T 0.734 T 0.458 P ID=COSM3763801,COSM3763802;OCCURENCE=5(large_intestine) Pathogenic 9_139760831_G->- 9 139760831 139760831 G - indel 1946.73 1/1 99 62 0 62 1.0 upstream rs398096725 EDF1 AU 0.78095 0.88 Uncertain 9_139760917_A->G 9 139760917 139760917 A G snp 222.84 1/1 18 6 0 6 1.0 upstream rs10870133 EDF1 AU 0.811901 0.88 Uncertain 9_139804274_G->A 9 139804274 139804274 G A snp 1674.77 1/1 99 46 0 46 1.0 intronic rs4567138 TRAF2 AU NM_021138 exon6 c.11179-97G>A 0.780152 0.88 Uncertain 9_139804346_C->T 9 139804346 139804346 C T snp 4310.77 1/1 99 155 0 155 1.0 intronic rs4448378 TRAF2 AU NM_021138 exon6 c.11179-25C>T 0.780152 0.88 0.762187 0.7444 0.8778 Uncertain 9_139815053_G->A 9 139815053 139815053 G A snp 720.77 1/1 54 23 0 23 1.0 intronic rs10781522 TRAF2 AU NM_021138 exon8 c.21775+86G>A 0.625799 0.7173 Uncertain 9_139818170_TT->- 9 139818170 139818171 TT - indel 708.73 1/1 45 15 0 15 1.0 intronic rs17250631 TRAF2 AU NM_021138 exon10 c.25111-133_25111-132delTT 0.785743 0.88 Uncertain 9_139820242_C->T 9 139820242 139820242 C T snp 2321.77 0/1 99 193 90 103 0.53 exonic rs776544531 TRAF2 AU synonymous SNV NM_021138 exon11 c.C1395T p.I465I 5.771e-05 0.0001 Uncertain 9_139820421_G->A 9 139820421 139820421 G A snp 3678.77 1/1 99 133 0 133 1.0 UTR3 rs7852970 TRAF2 AU 0.59385 0.7123 0.559008 0.6199 0.7315 Uncertain 9_139836362_G->A 9 139836362 139836362 G A snp 341.78 1/1 27 10 0 10 1.0 intronic rs7040705 FBXW5 AU NM_018998 exon4 c.1118-135G>A 0.575479 0.7014 Uncertain 9_139837701_C->- 9 139837701 139837701 C - indel 432.73 1/1 48 16 0 16 1.0 intronic rs11339872 FBXW5 AU NM_018998 exon7 c.2421-99delC Uncertain 9_139837990_G->C 9 139837990 139837990 G C snp 1316.77 1/1 96 41 0 41 1.0 intronic rs2271872 FBXW5 AU NM_018998 exon7 c.2579+32G>C 0.650958 0.8323 0.575104 0.5844 0.8463 Uncertain 9_139839904_T->G 9 139839904 139839904 T G snp 3595.77 1/1 99 141 0 141 1.0 exonic rs2071006 C8G AU synonymous SNV NM_000606 exon1 c.T132G p.A44A 0.567692 0.6954 0.547833 0.5666 0.7098 ID=COSM3763803;OCCURENCE=1(large_intestine) Uncertain 9_139840471_G->T 9 139840471 139840471 G T snp 4381.77 1/1 99 164 0 164 1.0 intronic rs7862602 C8G AU NM_000606 exon3 c.679+20G>T 0.632987 0.8363 0.562953 0.6177 0.8434 Uncertain 9_139840543_A->G 9 139840543 139840543 A G snp 6952.77 1/1 99 250 0 250 1.0 exonic rs7850844 C8G AU nonsynonymous SNV NM_000606 exon4 c.A353G p.D118G 0.967252 1 0.951663 0.9620 0.9999 0.52 T 0.0 P -0.957 T 0.0 T 0.0 T Pathogenic 9_139840859_T->C 9 139840859 139840859 T C snp 6612.77 1/1 99 238 0 238 1.0 intronic rs908830 C8G AU NM_000606 exon5 c.1144-57T>C 0.957668 0.999 0.9605 1 Uncertain 9_139841280_G->A 9 139841280 139841280 G A snp 680.77 0/1 99 72 40 32 0.44 UTR3 rs187101610 C8G AU 0.00219649 0.0109 0.000079 0.0004 0.0118 Uncertain 9_139847570_T->C 9 139847570 139847570 T C snp 2608.77 1/1 99 82 0 82 1.0 intronic rs884218 LCN12 AU NM_178536 exon2 c.701+90T>C 0.752196 0.8641 Uncertain 9_139848273_A->G 9 139848273 139848273 A G snp 3528.77 1/1 99 128 0 128 1.0 intronic rs2271869 LCN12 AU NM_178536 exon4 c.1520-26A>G 0.601837 0.8373 0.491840 0.5334 0.8448 Uncertain 9_139848278_T->C 9 139848278 139848278 T C snp 3354.77 1/1 99 123 0 123 1.0 intronic rs2271868 LCN12 AU NM_178536 exon4 c.1520-21T>C 0.61262 0.8373 0.521871 0.5366 0.8425 Uncertain 9_139848688_C->T 9 139848688 139848688 C T snp 6632.77 1/1 99 249 0 249 1.0 exonic rs4880175 LCN12 AU synonymous SNV NM_178536 exon5 c.C531T p.I177I 0.749201 0.8641 0.740058 0.7200 0.8680 0 D 0.000 P -1.021 T Likely benign 9_139849285_C->T 9 139849285 139849285 C T snp 245.8 1/1 21 8 0 8 1.0 intronic rs4880081 LCN12 AU NM_178536 exon6 c.3043-537C>T 0.296126 0.4851 Uncertain 9_139872048_A->G 9 139872048 139872048 A G snp 2850.77 1/1 99 103 0 103 1.0 exonic rs4880179 PTGDS AU synonymous SNV NM_000954 exon1 c.A18G p.T6T 0.954872 1 0.940687 0.9667 0.9998 ID=COSM4163602,COSM4163601,COSM4163600;OCCURENCE=1(thyroid) Uncertain 9_139875318_-->CATT 9 139875318 139875318 - CATT indel 1968.73 1/1 99 118 0 118 1.0 intronic rs146717258 PTGDS AU NM_000954 exon6 c.3277+11insCATT 0.5913 0.5451 Uncertain 9_139877698_A->C 9 139877698 139877698 A C snp 5088.77 1/1 99 176 0 176 1.0 UTR5 rs968516 LCNL1 AU 0.96845 1 Uncertain 9_139878828_T->C 9 139878828 139878828 T C snp 458.77 0/1 99 51 30 21 0.41 intronic rs4880082 LCNL1 AU NM_207510 exon2 c.903-113T>C 0.700679 0.8274 Uncertain 9_139879067_T->C 9 139879067 139879067 T C snp 1907.77 1/1 99 55 0 55 1.0 intronic rs2049042 LCNL1 AU NM_207510 exon2 c.977+52T>C 0.998802 1 0.999392 0.9994 1 Uncertain 9_139879113_G->A 9 139879113 139879113 G A snp 959.77 0/1 99 91 50 41 0.45 intronic rs2049041 LCNL1 AU NM_207510 exon3 c.1126-51G>A 0.693291 0.8284 0.675997 Uncertain 9_139879170_G->A 9 139879170 139879170 G A snp 2705.77 0/1 99 203 87 116 0.57 exonic rs17578859 LCNL1 AU nonsynonymous SNV NM_207510 exon3 c.G202A p.A68T 0.230232 0.1716 0.223633 0.2918 0.1897 0.12 T 0.000 P -0.893 T 0.757 T 0.361 P ID=COSM3763805;OCCURENCE=2(large_intestine) Pathogenic 9_139887042_G->C 9 139887042 139887042 G C snp 2000.77 0/1 99 192 94 98 0.51 intronic rs10870159 C9orf142 AU NM_183241 exon1 c.119+28G>C 0.684105 0.8214 0.771995 0.7397 0.8239 Uncertain 9_139890225_G->C 9 139890225 139890225 G C snp 499.77 0/1 99 26 6 20 0.77 intronic CLIC3 AU NM_004669 exon5 c.1077+16G>C Uncertain 9_139902214_A->G 9 139902214 139902214 A G snp 221.84 1/1 18 8 0 8 1.0 UTR3 rs10870161 ABCA2 AU 0.930911 1 Uncertain 9_139902712_A->G 9 139902712 139902712 A G snp 2562.77 1/1 99 93 0 93 1.0 intronic rs4880185 ABCA2 AU NM_001606 exon2 c.487-155A>G 0.969649 1 0.9741 1 Uncertain 9_139902786_G->C 9 139902786 139902786 G C snp 2755.77 1/1 99 112 1 111 0.99 intronic rs4880186 ABCA2 AU NM_001606 exon2 c.487-81G>C 0.932508 1 0.9596 0.9978 Uncertain 9_139902797_C->G 9 139902797 139902797 C G snp 2910.77 1/1 99 110 0 110 1.0 intronic rs4880187 ABCA2 AU NM_001606 exon2 c.487-70C>G 0.932708 1 0.9597 1 Uncertain 9_139903352_-->C 9 139903352 139903352 - C indel 1597.73 0/1 99 152 68 84 0.55 intronic rs397761371 ABCA2 AU NM_001606 exon3 c.940+32insC 0.679113 0.8175 0.6572 0.7936 Uncertain 9_139904037_A->G 9 139904037 139904037 A G snp 1889.77 0/1 99 181 98 83 0.46 exonic rs7048567 ABCA2 AU synonymous SNV NM_212533 exon44 c.T6780C p.L2260L 0.720048 0.8194 0.708481 0.6910 0.8083 ID=COSM3763806;OCCURENCE=1(large_intestine) Uncertain 9_139906359_G->A 9 139906359 139906359 G A snp 3174.77 0/1 99 250 119 131 0.52 exonic rs2271862 ABCA2 AU synonymous SNV NM_212533 exon35 c.C5562T p.H1854H 0.6873 0.8175 0.677694 0.6850 0.8083 ID=COSM3763807;OCCURENCE=1(large_intestine) Uncertain 9_139906513_T->C 9 139906513 139906513 T C snp 2858.77 0/1 99 220 99 121 0.55 intronic rs2271863 ABCA2 AU NM_001606 exon16 c.4173-40T>C 0.714457 0.8155 0.715265 0.6993 0.8072 Uncertain 9_139906686_G->A 9 139906686 139906686 G A snp 474.77 0/1 99 37 17 20 0.54 intronic rs45540434 ABCA2 AU NM_001606 exon17 c.4336-30G>A 0.35004 0.5188 0.4138 0.5357 Uncertain 9_139907842_T->C 9 139907842 139907842 T C snp 575.77 0/1 99 44 20 24 0.55 intronic rs4880188 ABCA2 AU NM_001606 exon21 c.5532-70T>C 0.715655 0.8214 Uncertain 9_139908139_A->G 9 139908139 139908139 A G snp 316.77 0/1 99 21 11 10 0.48 intronic rs10870162 ABCA2 AU NM_001606 exon21 c.5635+124A>G 0.698283 0.8214 Uncertain 9_139908265_T->C 9 139908265 139908265 T C snp 2968.77 1/1 99 101 0 101 1.0 intronic rs10781531 ABCA2 AU NM_001606 exon22 c.5903-18T>C 0.955072 1 0.947237 0.9704 1 Uncertain 9_139909014_C->T 9 139909014 139909014 C T snp 555.77 1/1 42 16 0 16 1.0 intronic rs10781532 ABCA2 AU NM_001606 exon24 c.6761-127C>T 0.91853 1 Uncertain 9_139910648_T->C 9 139910648 139910648 T C snp 5758.77 1/1 99 202 0 202 1.0 intronic rs6560657 ABCA2 AU NM_001606 exon28 c.8246+22T>C 0.96226 0.998 0.960702 0.9729 0.9957 Uncertain 9_139912178_G->A 9 139912178 139912178 G A snp 2696.77 0/1 99 187 74 113 0.6 intronic rs879854 ABCA2 AU NM_001606 exon33 c.9764+34G>A 0.661941 0.7708 0.623568 0.6339 0.7459 Uncertain 9_139912484_A->G 9 139912484 139912484 A G snp 4106.77 1/1 99 139 0 139 1.0 exonic rs908832 ABCA2 AU synonymous SNV NM_212533 exon15 c.T2127C p.D709D 0.963858 0.999 0.961906 0.9732 0.9957 ID=COSM4163605;OCCURENCE=1(thyroid) Uncertain 9_139912504_C->T 9 139912504 139912504 C T snp 2346.77 0/1 99 166 70 96 0.58 exonic rs117771129 ABCA2 AU nonsynonymous SNV NM_212533 exon15 c.G2107A p.D703N 0.00399361 0.0198 0.0018 0.0243 0.48 T 0.998 N -0.940 T 0.0 T 0.0 T Pathogenic 9_139913239_T->G 9 139913239 139913239 T G snp 3994.77 1/1 99 142 0 142 1.0 exonic rs908828 ABCA2 AU nonsynonymous SNV NM_212533 exon13 c.A1841C p.H614P 1 1 0.999920 0.9999 1 1 T 0.629 P -0.936 T 0.0 T 0.0 T Pathogenic 9_139916471_-->TGGCTCAGATGGGGGTG 9 139916471 139916471 - TGGCTCAGATGGGGGTG indel 6778.73 1/1 99 55 0 55 1.0 intronic rs142576618 ABCA2 AU NM_001606 exon43 c.14073+18insTGGCTCAGATGGGGGTG 0.907149 0.9286 0.927207 0.9433 0.9833 Uncertain 9_139923265_A->G 9 139923265 139923265 A G snp 1187.77 0/1 99 110 56 54 0.49 exonic rs4880189 ABCA2 AU synonymous SNV NM_212533 exon1 c.T60C p.A20A 0.766573 0.7708 0.771185 0.7484 0.7671 Uncertain 9_139926402_T->C 9 139926402 139926402 T C snp 2556.77 0/1 99 225 108 117 0.52 intronic rs7469569 C9orf139 AU 0.699481 0.7679 0.666692 0.6717 0.7560 Uncertain 9_139929015_C->G 9 139929015 139929015 C G snp 367.77 0/1 99 45 28 17 0.38 intronic rs9411293 C9orf139 AU NM_207511 exon3 c.1586-86C>G 0.254193 0.2351 Uncertain 9_139929080_C->T 9 139929080 139929080 C T snp 1240.77 0/1 99 131 76 55 0.42 intronic rs41317014 C9orf139 AU NM_207511 exon3 c.1586-21C>T 0.170327 0.2044 0.157368 0.2234 0.2229 Uncertain 9_139934020_G->A 9 139934020 139934020 G A snp 191.77 0/1 99 14 7 7 0.5 UTR3 rs6605 NPDC1 AU 0.173522 0.2113 Uncertain 9_139934107_G->A 9 139934107 139934107 G A snp 1379.77 0/1 99 109 54 55 0.5 UTR3 rs6604 NPDC1 AU 0.231629 0.248 Uncertain 9_139934907_G->A 9 139934907 139934907 G A snp 1201.77 0/1 99 98 40 58 0.59 intronic rs9411298 NPDC1 AU NM_015392 exon3 c.665+19G>A 0.166933 0.2093 0.165781 0.2692 0.3247 Uncertain 9_139937795_T->C 9 139937795 139937795 T C snp 2548.77 1/1 99 93 0 93 1.0 intronic rs10781535 NPDC1 AU NM_015392 exon8 c.3302+270T>C 0.997005 1 0.9996 1 0 D 1.000 P -1.033 T 0.0 T 0.0 T Uncertain 9_139937799_G->A 9 139937799 139937799 G A snp 2519.77 1/1 99 92 0 92 1.0 intronic rs10781536 NPDC1 AU NM_015392 exon8 c.3302+274G>A 0.997005 1 0.9996 1 1 T 0.000 P Uncertain 9_139943112_A->G 9 139943112 139943112 A G snp 445.77 0/1 99 51 34 17 0.33 exonic rs17853460 ENTPD2 AU synonymous SNV NM_001246 exon9 c.T1416C p.I472I 0.230032 0.3522 0.181734 0.3834 0.4740 ID=COSM3763808;OCCURENCE=5(thyroid),1(large_intestine) Uncertain 9_139943420_G->A 9 139943420 139943420 G A snp 872.77 0/1 99 84 50 34 0.4 exonic rs180778128 ENTPD2 AU synonymous SNV NM_001246 exon8 c.C1188T p.A396A 0.000998403 0.005 9.593e-05 0.0057 Uncertain 9_139943429_G->A 9 139943429 139943429 G A snp 838.77 0/1 99 86 51 35 0.41 exonic rs7873815 ENTPD2 AU synonymous SNV NM_001246 exon8 c.C1179T p.D393D 0.436701 0.5327 0.338158 0.3176 0.6 ID=COSM3763809;OCCURENCE=8(large_intestine),3(thyroid) Uncertain 9_139943549_G->A 9 139943549 139943549 G A snp 2080.77 1/1 99 75 0 75 1.0 intronic rs7390981 ENTPD2 AU NM_203468 exon2 c.419+22G>A 0.863019 0.8889 0.901146 0.8954 0.8737 Uncertain 9_139944496_T->C 9 139944496 139944496 T C snp 1523.77 1/1 99 57 0 57 1.0 intronic rs10870169 ENTPD2 AU NM_001246 exon3 c.1333+55T>C 0.865216 0.8879 Uncertain 9_139944509_T->C 9 139944509 139944509 T C snp 1338.77 1/1 96 49 0 49 1.0 intronic rs10735661 ENTPD2 AU NM_001246 exon3 c.1333+68T>C 0.55012 0.6786 Uncertain 9_139944545_C->T 9 139944545 139944545 C T snp 185.77 0/1 99 13 6 7 0.54 intronic rs11145976 ENTPD2 AU NM_001246 exon3 c.1333+104C>T Uncertain 9_139944548_T->C 9 139944548 139944548 T C snp 419.77 1/1 33 12 0 12 1.0 intronic rs12555382 ENTPD2 AU NM_001246 exon3 c.1333+107T>C 0.3123 0.3155 Uncertain 9_139944552_C->T 9 139944552 139944552 C T snp 146.77 0/1 99 11 5 6 0.55 intronic rs11145977 ENTPD2 AU NM_001246 exon3 c.1333+111C>T 0.014377 0.0159 Uncertain 9_139944617_T->C 9 139944617 139944617 T C snp 32.77 0/1 61 6 3 3 0.5 intronic rs10870170 ENTPD2 AU NM_001246 exon4 c.1627-118T>C 0.466454 0.4583 Uncertain 9_139944624_C->T 9 139944624 139944624 C T snp 41.77 0/1 61 8 5 3 0.38 intronic rs7860436 ENTPD2 AU NM_001246 exon4 c.1627-111C>T Uncertain 9_139944652_G->A 9 139944652 139944652 G A snp 98.77 0/1 99 17 11 6 0.35 intronic rs7848899 ENTPD2 AU NM_001246 exon4 c.1627-83G>A Uncertain 9_139944653_T->C 9 139944653 139944653 T C snp 214.77 0/1 99 17 7 10 0.59 intronic rs12005729 ENTPD2 AU NM_001246 exon4 c.1627-82T>C 0.475639 0.4762 Uncertain 9_139944656_C->T 9 139944656 139944656 C T snp 168.77 0/1 99 19 11 8 0.42 intronic rs12004425 ENTPD2 AU NM_001246 exon4 c.1627-79C>T 0.0623003 0.0764 Uncertain 9_139944688_G->A 9 139944688 139944688 G A snp 291.77 0/1 99 36 21 15 0.42 intronic rs45623536 ENTPD2 AU NM_001246 exon4 c.1627-47G>A 0.0007 0 Uncertain 9_139944689_T->C 9 139944689 139944689 T C snp 353.77 0/1 99 36 16 20 0.56 intronic rs7869777 ENTPD2 AU NM_001246 exon4 c.1627-46T>C 0.493411 0.4841 0.0081 0.0083 Uncertain 9_139944736_C->G 9 139944736 139944736 C G snp 582.77 0/1 99 56 28 28 0.5 exonic rs4880083 ENTPD2 AU synonymous SNV NM_001246 exon6 c.G1029C p.V343V 0.5035 0.5382 ID=COSM3982777;OCCURENCE=2(thyroid) Uncertain 9_139945051_A->G 9 139945051 139945051 A G snp 1248.77 1/1 90 36 0 36 1.0 intronic rs7869520 ENTPD2 AU NM_001246 exon4 c.1882+61A>G 0.900958 0.8919 Uncertain 9_139945363_G->A 9 139945363 139945363 G A snp 892.77 0/1 99 81 42 39 0.48 exonic rs2292925 ENTPD2 AU synonymous SNV NM_001246 exon5 c.C765T p.S255S 0.21905 0.3472 0.178934 0.2416 0.3465 ID=COSM4163609;OCCURENCE=1(thyroid) Uncertain 9_139946039_C->T 9 139946039 139946039 C T snp 893.77 0/1 99 89 51 38 0.43 exonic rs182198212 ENTPD2 AU synonymous SNV NM_001246 exon3 c.G309A p.A103A 0.00299521 0.0139 0.0012 0.0159 Uncertain 9_139946804_C->G 9 139946804 139946804 C G snp 4092.77 1/1 99 135 0 135 1.0 splicing rs2271867 ENTPD2 AU NM_001246 exon8 c.3692+4C>G 0.90655 0.8909 0.899108 0.9062 0.8817 Pathogenic 9_139946896_-->C 9 139946896 139946896 - C indel 207.8 1/1 18 29 7 22 0.76 intronic rs199591098 ENTPD2 AU NM_001246 exon8 c.3692+96insC Uncertain 9_139946905_-->A 9 139946905 139946905 - A indel 368.73 0/1 72 22 10 12 0.55 intronic rs34679600 ENTPD2 AU NM_001246 exon8 c.3692+105insA 0.804712 0.7887 Uncertain 9_139946916_G->A 9 139946916 139946916 G A snp 147.77 0/1 99 12 6 6 0.5 intronic rs11145979 ENTPD2 AU NM_001246 exon8 c.3692+116G>A 0.617612 0.5387 Uncertain 9_139959292_C->G 9 139959292 139959292 C G snp 676.77 0/1 99 59 26 33 0.56 intronic rs9314873 SAPCD2 AU NM_178448 exon2 c.204-22C>G 0.206869 0.3363 0.177145 0.2811 0.3920 Uncertain 9_139960177_C->T 9 139960177 139960177 C T snp 1604.77 0/1 99 137 74 63 0.46 intronic rs4880086 SAPCD2 AU NM_178448 exon4 c.1010+57C>T 0.195487 0.3353 Uncertain 9_139960178_A->G 9 139960178 139960178 A G snp 3869.77 1/1 99 136 0 136 1.0 intronic rs2176674 SAPCD2 AU NM_178448 exon4 c.1010+58A>G 0.906949 0.8958 Uncertain 9_139964290_G->T 9 139964290 139964290 G T snp 123.77 0/1 99 16 8 8 0.5 intronic rs9411304 SAPCD2 AU NM_178448 exon6 c.5231-51G>T 0.19369 0.3125 Uncertain 9_139964447_G->C 9 139964447 139964447 G C snp 363.77 0/1 99 28 11 17 0.61 exonic rs71483301 SAPCD2 AU nonsynonymous SNV NM_178448 exon1 c.C466G p.R156G 0.425519 0.5704 0 . 0.28 T 0.919 P -0.903 T 0.993 D 0.972 D ID=COSM4163611;OCCURENCE=1(thyroid) Pathogenic 9_139964450_C->T 9 139964450 139964450 C T snp 321.77 0/1 99 30 12 18 0.6 exonic rs71483302 SAPCD2 AU nonsynonymous SNV NM_178448 exon1 c.G463A p.A155T 0.425719 0.5714 0 . 0.46 T 0.0 P -0.922 T 0.216 T 0.019 T Pathogenic 9_139973186_T->C 9 139973186 139973186 T C snp 2736.77 1/1 99 78 0 78 1.0 intronic rs7390974 UAP1L1 AU NM_207309 exon3 c.1145+57T>C 0.997005 1 Uncertain 9_139973236_T->C 9 139973236 139973236 T C snp 543.77 1/1 42 15 0 15 1.0 intronic rs7873997 UAP1L1 AU NM_207309 exon3 c.1145+107T>C 0.896765 0.9861 Uncertain 9_139973629_A->C 9 139973629 139973629 A C snp 971.77 0/1 99 83 41 42 0.51 intronic rs7390710 UAP1L1 AU NM_207309 exon4 c.1616+29A>C 0.501398 0.4742 0.553743 0.6242 0.4667 Uncertain 9_139973652_A->G 9 139973652 139973652 A G snp 2049.77 1/1 99 62 1 61 0.98 intronic rs7390711 UAP1L1 AU NM_207309 exon4 c.1616+52A>G 0.896965 0.9861 0.895195 0.9673 0.9853 Uncertain 9_139973798_C->G 9 139973798 139973798 C G snp 1881.77 0/1 99 155 78 77 0.5 exonic UAP1L1 AU nonsynonymous SNV NM_207309 exon5 c.C934G p.P312A 0.76 T 0.569 N -1.080 T 0.984 D 0.765 D Pathogenic 9_139973820_C->T 9 139973820 139973820 C T snp 1760.77 0/1 99 158 80 78 0.49 exonic rs7037849 UAP1L1 AU nonsynonymous SNV NM_207309 exon5 c.C956T p.A319V 0.489217 0.6528 0.414578 0.4315 0.6565 0.04 T 0.0 P -1.004 T 0.787 T 0.34 P ID=COSM3763810,COSM3763811;OCCURENCE=1(large_intestine),2(thyroid) Pathogenic 9_139975108_T->C 9 139975108 139975108 T C snp 3878.77 1/1 99 146 0 146 1.0 intronic rs9314874 UAP1L1 AU NM_207309 exon7 c.3156-32T>C 0.996605 0.999 0.997843 0.9993 0.9999 Uncertain 9_139977195_T->C 9 139977195 139977195 T C snp 691.77 1/1 51 21 0 21 1.0 UTR3 rs4390039 UAP1L1 AU 0.997005 1 0.997908 0.9991 1 Uncertain 9_139981241_G->C 9 139981241 139981241 G C snp 1393.77 1/1 99 46 0 46 1.0 ncRNA_exonic rs968732 MAN1B1-AS1 AU 0.997005 1 Uncertain 9_139981242_T->G 9 139981242 139981242 T G snp 1364.77 1/1 99 46 1 45 0.98 ncRNA_exonic rs1401557 MAN1B1-AS1 AU 0.997005 1 Uncertain 9_139981627_A->G 9 139981627 139981627 A G snp 3547.77 1/1 99 127 0 127 1.0 exonic rs968733 MAN1B1 AR nonsynonymous SNV NM_016219 exon1 c.A176G p.N59S 0.905351 0.995 0.914156 0.9759 0.9909 1 T 1.000 P -0.979 T 0.0 T 0.0 T CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000117582.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 ID=COSM4163617;OCCURENCE=1(thyroid) Pathogenic 9_139982868_C->T 9 139982868 139982868 C T snp 1153.77 0/1 99 101 57 44 0.44 intronic rs3750518 MAN1B1 AR NM_016219 exon2 c.1184+233C>T 0.487021 0.6538 0.409836 0.4320 0.6580 Uncertain 9_139990906_T->C 9 139990906 139990906 T C snp 156.77 0/1 94 8 3 5 0.63 intronic rs4880199 MAN1B1 AR NM_016219 exon4 c.9392+63T>C 0.809505 0.6964 Uncertain 9_139992479_G->C 9 139992479 139992479 G C snp 235.77 0/1 97 11 3 8 0.73 intronic rs12554429 MAN1B1 AR NM_016219 exon5 c.10938+90G>C 0.348043 0.2391 Uncertain 9_139994102_G->A 9 139994102 139994102 G A snp 523.77 0/1 99 36 16 20 0.56 intronic rs4880200 MAN1B1 AR NM_016219 exon6 c.12696-45G>A 0.758187 0.6766 0.780255 0.7436 0.6978 Uncertain 9_139996442_C->T 9 139996442 139996442 C T snp 959.77 0/1 99 244 187 57 0.23 intronic MAN1B1 AR NM_016219 exon8 c.14673+318C>T Uncertain 9_139996468_T->C 9 139996468 139996468 T C snp 1023.77 0/1 99 243 184 59 0.24 intronic rs199642259 MAN1B1 AR NM_016219 exon8 c.14673+344T>C 0.0032 0 Uncertain 9_139996479_G->A 9 139996479 139996479 G A snp 448.77 0/1 99 244 198 46 0.19 intronic MAN1B1 AR NM_016219 exon8 c.14673+355G>A Uncertain 9_139996489_T->C 9 139996489 139996489 T C snp 563.77 0/1 99 245 189 56 0.23 intronic rs148257739 MAN1B1 AR NM_016219 exon8 c.14673+365T>C 0.0086 0.0115 Uncertain 9_139996589_G->A 9 139996589 139996589 G A snp 625.77 0/1 99 230 183 47 0.2 intronic rs200324609 MAN1B1 AR NM_016219 exon8 c.14673+465G>A Uncertain 9_139996619_C->A 9 139996619 139996619 C A snp 66.77 0/1 95 238 206 32 0.13 intronic rs62584504 MAN1B1 AR NM_016219 exon8 c.14673+495C>A 0.0061 0.05 Uncertain 9_139996641_C->A 9 139996641 139996641 C A snp 2967.77 0/1 99 246 139 107 0.43 intronic rs13298199 MAN1B1 AR NM_016219 exon8 c.14673+517C>A 0.4126 0.6745 Uncertain 9_139996668_T->C 9 139996668 139996668 T C snp 1037.77 0/1 99 248 193 55 0.22 intronic rs77700193 MAN1B1 AR NM_016219 exon8 c.14673+544T>C 0.0001 0 Uncertain 9_139996685_G->T 9 139996685 139996685 G T snp 1702.77 0/1 99 243 169 74 0.3 intronic rs77466688 MAN1B1 AR NM_016219 exon8 c.14673+561G>T Uncertain 9_139996692_CATT->- 9 139996692 139996695 CATT - indel 4276.73 0/1 99 230 155 75 0.33 intronic MAN1B1 AR NM_016219 exon8 c.14673+568_14673+571delCATT Uncertain 9_139996710_A->C 9 139996710 139996710 A C snp 2927.77 0/1 99 237 120 117 0.49 intronic rs62584506 MAN1B1 AR NM_016219 exon8 c.14673+586A>C 0.403754 0.3909 0.0003 0 Uncertain 9_139996713_A->G 9 139996713 139996713 A G snp 2959.77 0/1 99 232 116 116 0.5 intronic rs78717071 MAN1B1 AR NM_016219 exon8 c.14673+589A>G 0.403754 0.3909 0.0003 0 Uncertain 9_139996714_T->C 9 139996714 139996714 T C snp 2942.77 0/1 99 233 110 123 0.53 intronic rs73668393 MAN1B1 AR NM_016219 exon8 c.14673+590T>C 0.403754 0.3909 0.0062 0.02 Uncertain 9_139996739_-->CG 9 139996739 139996739 - CG indel 2635.73 0/1 99 235 162 73 0.31 intronic rs148862659 MAN1B1 AR NM_016219 exon8 c.14673+615insCG 0.0473243 0.0923 0.4985 0.5 Uncertain 9_139996749_G->A 9 139996749 139996749 G A snp 1345.77 0/1 99 246 188 58 0.24 intronic rs11145991 MAN1B1 AR NM_016219 exon8 c.14673+625G>A 0.00179712 0.004 Uncertain 9_139996764_G->C 9 139996764 139996764 G C snp 716.77 0/1 99 247 203 44 0.18 intronic rs62584544 MAN1B1 AR NM_016219 exon8 c.14673+640G>C Uncertain 9_139996778_C->T 9 139996778 139996778 C T snp 554.77 0/1 99 241 201 40 0.17 intronic rs11145992 MAN1B1 AR NM_016219 exon8 c.14673+654C>T Uncertain 9_139996790_C->A 9 139996790 139996790 C A snp 40.77 0/1 69 247 226 21 0.09 intronic rs11145993 MAN1B1 AR NM_016219 exon8 c.14673+666C>A Uncertain 9_139996933_T->G 9 139996933 139996933 T G snp 3445.77 0/1 99 248 114 134 0.54 intronic rs10118812 MAN1B1 AR NM_016219 exon8 c.14673+809T>G 0.776358 0.6944 Uncertain 9_139997098_T->A 9 139997098 139997098 T A snp 600.77 0/1 99 231 187 44 0.19 intronic rs62584550 MAN1B1 AR NM_016219 exon8 c.14673+974T>A Uncertain 9_139997101_C->T 9 139997101 139997101 C T snp 226.77 0/1 99 232 200 32 0.14 intronic MAN1B1 AR NM_016219 exon8 c.14673+977C>T Uncertain 9_139997116_TGT->- 9 139997116 139997118 TGT - indel 3306.73 0/1 99 217 144 73 0.34 intronic rs371782921 MAN1B1 AR NM_016219 exon8 c.14673+992_14673+994delTGT 0.00219649 0.0109 Uncertain 9_139997126_A->T 9 139997126 139997126 A T snp 64.77 0/1 93 240 211 29 0.12 intronic MAN1B1 AR NM_016219 exon8 c.14673+1002A>T Uncertain 9_139997132_A->G 9 139997132 139997132 A G snp 811.77 0/1 99 240 178 62 0.26 intronic rs62584552 MAN1B1 AR NM_016219 exon8 c.14673+1008A>G Uncertain 9_139997142_A->G 9 139997142 139997142 A G snp 523.77 0/1 99 238 185 53 0.22 intronic rs201348497 MAN1B1 AR NM_016219 exon8 c.14673+1018A>G Uncertain 9_139997144_A->G 9 139997144 139997144 A G snp 1030.77 0/1 99 239 181 58 0.24 intronic rs62584553 MAN1B1 AR NM_016219 exon8 c.14673+1020A>G Uncertain 9_139997157_C->G 9 139997157 139997157 C G snp 984.77 0/1 99 239 148 91 0.38 intronic rs35757228 MAN1B1 AR NM_016219 exon8 c.14673+1033C>G Uncertain 9_139997212_A->G 9 139997212 139997212 A G snp 413.77 0/1 99 239 197 42 0.18 intronic MAN1B1 AR NM_016219 exon8 c.14673+1088A>G Uncertain 9_139997221_C->A 9 139997221 139997221 C A snp 334.77 0/1 99 231 196 35 0.15 intronic MAN1B1 AR NM_016219 exon8 c.14673+1097C>A Uncertain 9_139997224_G->A 9 139997224 139997224 G A snp 351.77 0/1 99 227 195 32 0.14 intronic MAN1B1 AR NM_016219 exon8 c.14673+1100G>A Uncertain 9_139997235_G->T 9 139997235 139997235 G T snp 71.77 0/1 99 214 193 21 0.1 intronic rs775342493 MAN1B1 AR NM_016219 exon8 c.14673+1111G>T Uncertain 9_139997251_T->C 9 139997251 139997251 T C snp 234.77 0/1 99 196 166 30 0.15 intronic rs760348002 MAN1B1 AR NM_016219 exon8 c.14673+1127T>C Uncertain 9_139997294_A->G 9 139997294 139997294 A G snp 1417.77 0/1 99 139 70 69 0.5 intronic rs62584555 MAN1B1 AR NM_016219 exon8 c.14673+1170A>G 0.153554 0.006 Uncertain 9_139997331_T->C 9 139997331 139997331 T C snp 927.77 0/1 99 93 54 39 0.42 intronic rs62584556 MAN1B1 AR NM_016219 exon8 c.14673+1207T>C Uncertain 9_139997332_G->A 9 139997332 139997332 G A snp 483.77 0/1 99 91 67 24 0.26 intronic MAN1B1 AR NM_016219 exon8 c.14673+1208G>A Uncertain 9_139997352_C->T 9 139997352 139997352 C T snp 68.77 0/1 97 24 19 5 0.21 intronic MAN1B1 AR NM_016219 exon8 c.14673+1228C>T Uncertain 9_139997353_A->G 9 139997353 139997353 A G snp 58.77 0/1 87 16 8 8 0.5 intronic rs113977903 MAN1B1 AR NM_016219 exon8 c.14673+1229A>G Uncertain 9_139997528_C->G 9 139997528 139997528 C G snp 129.77 0/1 99 118 103 15 0.13 intronic rs200621954 MAN1B1 AR NM_016219 exon8 c.14673+1404C>G Uncertain 9_139997545_A->G 9 139997545 139997545 A G snp 60.77 0/1 89 197 169 28 0.14 intronic MAN1B1 AR NM_016219 exon8 c.14673+1421A>G Uncertain 9_139997687_G->C 9 139997687 139997687 G C snp 181.77 0/1 99 249 200 49 0.2 intronic rs201278795 MAN1B1 AR NM_016219 exon8 c.14673+1563G>C Uncertain 9_139997716_C->T 9 139997716 139997716 C T snp 79.77 0/1 99 240 198 42 0.17 intronic MAN1B1 AR NM_016219 exon8 c.14673+1592C>T Uncertain 9_139997717_A->T 9 139997717 139997717 A T snp 63.77 0/1 92 240 198 42 0.17 intronic MAN1B1 AR NM_016219 exon8 c.14673+1593A>T Uncertain 9_140001341_-->AAC 9 140001341 140001341 - AAC indel 1620.73 0/1 99 56 22 34 0.61 intronic rs113628935 MAN1B1 AR NM_016219 exon10 c.19810+80insAAC 0.811901 0.7014 Uncertain 9_140002136_G->A 9 140002136 140002136 G A snp 2481.77 0/1 99 208 105 103 0.5 intronic rs117994893 MAN1B1 AR NM_016219 exon12 c.20663+22G>A 0.0285543 0.0556 0.025988 0.0350 0.0667 1.000 N -1.035 T Uncertain 9_140002220_A->G 9 140002220 140002220 A G snp 1563.77 0/1 99 100 47 53 0.53 intronic rs10117795 MAN1B1 AR NM_016219 exon12 c.20663+106A>G 0.785543 0.6994 0.7721 0.7278 0.0 P -1.013 T Uncertain 9_140002501_T->C 9 140002501 140002501 T C snp 194.77 0/1 57 9 3 6 0.67 intronic rs6420280 MAN1B1 AR NM_016219 exon13 c.21388-338T>C 0.809305 0.6974 Uncertain 9_140002989_T->C 9 140002989 140002989 T C snp 2605.77 0/1 99 250 137 113 0.45 exonic rs4880091 MAN1B1 AR synonymous SNV NM_016219 exon13 c.T2046C p.D682D 0.809904 0.6984 0.819160 0.7663 0.7133 1.000 P -1.002 T CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000117585.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 ID=COSM4138895;OCCURENCE=1(kidney),3(thyroid) Likely benign 9_140003427_A->G 9 140003427 140003427 A G snp 1195.77 0/1 99 112 63 49 0.44 UTR3 rs4567 MAN1B1 AR 0.551917 0.6964 0.4936 0.7475 0.0 P -0.985 T ID=CR094058;DIS=End-stage liver disease, early onset, association with;TAG=DFP;PUB=19444872 DFP Uncertain 9_140006202_G->A 9 140006202 140006202 G A snp 1393.77 0/1 99 130 63 67 0.52 exonic rs13631 DPP7 AU synonymous SNV NM_013379 exon11 c.C1212T p.L404L 0.514776 0.6776 0.429033 0.4427 0.6960 ID=COSM3763812;OCCURENCE=1(large_intestine),1(urinary_tract),1(kidney) Uncertain 9_140006425_C->G 9 140006425 140006425 C G snp 1875.77 0/1 99 160 85 75 0.47 exonic rs10747048 DPP7 AU synonymous SNV NM_013379 exon10 c.G1107C p.P369P 0.782348 0.6944 0.793019 0.7582 0.7157 Uncertain 9_140008581_C->T 9 140008581 140008581 C T snp 198.77 0/1 58 8 2 6 0.75 intronic DPP7 AU NM_013379 exon10 c.3381+101C>T Uncertain 9_140008750_G->C 9 140008750 140008750 G C snp 1545.77 1/1 99 59 0 59 1.0 exonic rs10747049 DPP7 AU nonsynonymous SNV NM_013379 exon3 c.C266G p.A89G 0.816893 0.7302 0.844206 0.7815 0.7532 1 T 0.000 P -0.991 T 0.0 T 0.0 T ID=COSM3763813;OCCURENCE=5(thyroid),4(large_intestine) Pathogenic 9_140008899_G->A 9 140008899 140008899 G A snp 639.77 0/1 99 56 29 27 0.48 intronic rs10870183 DPP7 AU NM_013379 exon12 c.3815-15G>A 0.369209 0.5873 0.260742 0.4285 0.6963 Uncertain 9_140040156_G->A 9 140040156 140040156 G A snp 779.77 0/1 99 64 30 34 0.53 intronic rs10870196 GRIN1 AU NM_007327 exon3 c.6239-21G>A 0.948482 0.9345 0.947547 0.9468 0.9369 Uncertain 9_140055876_G->A 9 140055876 140055876 G A snp 5041.77 1/1 99 182 4 178 0.98 intronic rs10747050 GRIN1 AU NM_007327 exon10 c.21930+8G>A 0.933506 0.9792 0.946813 0.9356 0.9847 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000117168.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 9_140056456_G->A 9 140056456 140056456 G A snp 2675.77 1/1 99 108 0 108 1.0 exonic rs75783429 GRIN1 AU synonymous SNV NM_007327 exon11 c.G1548A p.P516P 0.0197684 0.0476 0.005382 0.0184 0.1089 Uncertain 9_140064315_C->A 9 140064315 140064315 C A snp 452.77 0/1 99 35 15 20 0.57 exonic rs7019671 LRRC26 AU nonsynonymous SNV NM_001013653 exon1 c.G81T p.Q27H 0.286142 0.1567 0.273337 0.4727 0.2308 0.11 T 0.0 P -0.972 T 0.003 T 0.001 T ID=COSM4163620;OCCURENCE=2(thyroid) Pathogenic 9_140064376_G->A 9 140064376 140064376 G A snp 181.77 0/1 99 26 17 9 0.35 exonic rs77712801 LRRC26 AU nonsynonymous SNV NM_001013653 exon1 c.C20T p.S7L 0.0950479 0.1468 0.048447 0.1403 0.25 0.22 T 0.0 P -1.097 T 0.002 T 0.002 T ID=COSM4163621;OCCURENCE=1(thyroid) Pathogenic 9_140070369_A->G 9 140070369 140070369 A G snp 1526.77 1/1 99 41 0 41 1.0 intronic rs72619353 ANAPC2 AU NM_013366 exon3 c.896+80A>G 0.0339457 0.0913 Uncertain 9_140075181_G->C 9 140075181 140075181 G C snp 945.77 1/1 69 30 0 30 1.0 intronic rs73571568 ANAPC2 AU NM_013366 exon6 c.5846-58G>C 0.258986 0.0823 Uncertain 9_140076106_G->C 9 140076106 140076106 G C snp 1084.77 1/1 78 36 0 36 1.0 intronic rs73571572 ANAPC2 AU NM_013366 exon7 c.6739-26G>C 0.0191693 0.0298 0.013231 0.0077 0.0306 Uncertain 9_140080499_A->G 9 140080499 140080499 A G snp 267.8 1/1 21 9 0 9 1.0 intronic rs3922734 ANAPC2 AU NM_013366 exon11 c.11282-176A>G 0.243011 0.0714 Uncertain 9_140080583_G->A 9 140080583 140080583 G A snp 1275.77 1/1 93 44 0 44 1.0 intronic rs3922735 ANAPC2 AU NM_013366 exon11 c.11282-92G>A 0.259585 0.0823 Uncertain 9_140080638_G->A 9 140080638 140080638 G A snp 1247.77 0/1 99 68 18 50 0.74 intronic rs778409748 ANAPC2 AU NM_013366 exon11 c.11282-37G>A 8.515e-06 0 Uncertain 9_140083345_C->T 9 140083345 140083345 C T snp 852.77 1/1 66 27 0 27 1.0 intronic rs73563667 SSNA1 AU NM_003731 exon1 c.52+115C>T 0.0189696 0.0288 Uncertain 9_140084071_G->A 9 140084071 140084071 G A snp 349.78 1/1 27 10 0 10 1.0 intronic rs60245284 SSNA1 AU NM_003731 exon3 c.1080-187G>A 0.0125799 0.0288 Uncertain 9_140087025_TCC->- 9 140087025 140087027 TCC - indel 3725.73 0/1 99 205 104 101 0.49 exonic rs376810326 TPRN AR nonframeshift deletion NM_001128228 exon2 c.1842_1844del p.614_615del 0.0269 0.0220 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000152128.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 ID=COSM301223,COSM1598191;OCCURENCE=1(endometrium),1(large_intestine) Uncertain 9_140087036_C->T 9 140087036 140087036 C T snp 2300.77 0/1 99 223 120 103 0.46 exonic rs773320965 TPRN AR synonymous SNV NM_001128228 exon2 c.G1833A p.E611E 8.925e-06 0 Uncertain 9_140087045_C->T 9 140087045 140087045 C T snp 2626.77 0/1 99 243 128 115 0.47 exonic rs76275509 TPRN AR synonymous SNV NM_001128228 exon2 c.G1824A p.E608E 0.000998403 0.005 Uncertain 9_140094605_C->A 9 140094605 140094605 C A snp 915.77 1/1 66 33 0 33 1.0 exonic rs9411313 TPRN AR nonsynonymous SNV NM_001128228 exon1 c.G559T p.A187S 0.24381 0.0675 0 . 0.0 P -0.984 T 0.012 T 0.004 T Pathogenic 9_140108916_TG->- 9 140108916 140108917 TG - indel 3737.73 1/1 99 74 0 74 1.0 intronic rs149701237 NDOR1 AU NM_001144028 exon6 c.8636+51_8636+52delTG 0.665735 0.6964 0.658786 0.6732 0.7153 Uncertain 9_140110274_T->C 9 140110274 140110274 T C snp 5676.77 1/1 99 206 0 206 1.0 intronic rs7390663 NDOR1 AU NM_001144028 exon11 c.10028+17T>C 0.899161 0.9147 0.869013 0.8635 0.9315 Uncertain 9_140120396_C->T 9 140120396 140120396 C T snp 2161.77 1/1 99 73 0 73 1.0 exonic rs6606566 CYSRT1 AU nonsynonymous SNV NM_199001 exon2 c.C443T p.A148V 0.841853 0.8968 0.816585 0.8399 0.9028 1 T 0.0 P -0.962 T 0.0 T 0.0 T ID=COSM3763816;OCCURENCE=1(large_intestine),1(thyroid) Pathogenic 9_140123132_C->G 9 140123132 140123132 C G snp 620.77 1/1 45 23 0 23 1.0 exonic rs6606565 RNF224 AU nonsynonymous SNV NM_001190228 exon3 c.C65G p.T22R 0.467252 0.6508 0.5528 0.6389 0.07 T 0.0 P -0.947 T ID=COSM4163625;OCCURENCE=1(thyroid) Pathogenic 9_140128085_T->C 9 140128085 140128085 T C snp 2529.77 1/1 99 98 0 98 1.0 exonic rs28407527 SLC34A3 AR synonymous SNV NM_080877 exon8 c.T757C p.L253L 0.455671 0.4673 0.413655 0.4445 0.4903 ID=COSM4163629;OCCURENCE=1(thyroid) ID=CS100321;DIS=Hereditary hypophosphataemic rickets with hypercalciuria, modifier of;TAG=DP;PUB=20074341 DP Uncertain 9_140130606_A->T 9 140130606 140130606 A T snp 4988.77 1/1 99 190 0 190 1.0 exonic rs28542318 SLC34A3 AR nonsynonymous SNV NM_080877 exon13 c.A1538T p.E513V 0.946086 1 0.886920 0.8831 0.9994 1 T 0.001 P -0.979 T 0.0 T 0.0 T Pathogenic 9_140139757_G->A 9 140139757 140139757 G A snp 2849.77 1/1 99 101 0 101 1.0 splicing rs9775264 FAM166A AU NM_001001710 exon5 c.1607-1G>A 0.997005 1 0.991081 0.9928 1 1.000 P Pathogenic 9_140142299_C->T 9 140142299 140142299 C T snp 1286.77 0/1 99 88 40 48 0.55 upstream rs9330201 FAM166A AU 0.657748 0.631 Uncertain 9_140146651_T->C 9 140146651 140146651 T C snp 181.77 0/1 99 12 6 6 0.5 ncRNA_intronic rs28567631 C9orf173-AS1 AU 0.701877 0.6885 Uncertain 9_140147094_-->CT 9 140147094 140147094 - CT indel 1203.73 0/1 99 66 39 27 0.41 ncRNA_intronic rs71387813 C9orf173-AS1 AU 0.628594 0.4911 0.680728 0.7213 0.5842 Uncertain 9_140147095_G->A 9 140147095 140147095 G A snp 1059.77 0/1 99 68 27 41 0.6 ncRNA_intronic C9orf173-AS1 AU Uncertain 9_140147152_C->G 9 140147152 140147152 C G snp 891.77 0/1 99 104 62 42 0.4 exonic rs28376526 C9orf173 AU synonymous SNV NM_001004353 exon5 c.C531G p.P177P 0.609824 0.4772 0.688813 0.7153 0.5608 ID=COSM4163635;OCCURENCE=1(thyroid) Uncertain 9_140147273_C->T 9 140147273 140147273 C T snp 1790.77 0/1 99 149 71 78 0.52 exonic;splicing rs61759822 C9orf173;C9orf173 UN nonsynonymous SNV NM_001004353 exon5 c.C652T p.L218F 0.142772 0.3075 0.087336 0.2220 0.4615 0.25 T 0.0 P -1.097 T 0.982 D 0.745 D Pathogenic 9_140148051_A->G 9 140148051 140148051 A G snp 327.77 0/1 99 33 20 13 0.39 upstream;downstream rs28631372 C9orf173-AS1;C9orf173 UN 0.629992 0.494 Uncertain 9_140150310_G->A 9 140150310 140150310 G A snp 1081.77 0/1 99 86 42 44 0.51 intronic rs11533155 NELFB AU NM_015456 exon2 c.397-48G>A 0.141174 0.3006 0.084454 0.1276 0.3209 Uncertain 9_140157429_G->A 9 140157429 140157429 G A snp 1753.77 0/1 99 136 71 65 0.48 intronic rs13294457 NELFB AU NM_015456 exon5 c.7527-59G>A 0.619409 0.4772 Uncertain 9_140157460_T->C 9 140157460 140157460 T C snp 2521.77 0/1 99 223 117 106 0.48 intronic rs13296455 NELFB AU NM_015456 exon5 c.7527-28T>C 0.680911 0.6498 0.701599 0.7344 0.6455 Uncertain 9_140157701_C->T 9 140157701 140157701 C T snp 970.77 0/1 99 98 54 44 0.45 intronic rs56368095 NELFB AU NM_015456 exon5 c.7713+27C>T 0.618011 0.4732 0.688067 0.7046 0.4936 Uncertain 9_140158650_C->T 9 140158650 140158650 C T snp 1017.77 0/1 99 98 51 47 0.48 intronic rs9695897 NELFB AU NM_015456 exon6 c.8735-46C>T 0.616414 0.4792 0.697992 0.6991 0.5229 Uncertain 9_140158871_T->C 9 140158871 140158871 T C snp 216.77 0/1 99 18 9 9 0.5 intronic rs13295537 NELFB AU NM_015456 exon6 c.8848+62T>C 0.630391 0.494 Uncertain 9_140161632_GTGGGGCTGAG->- 9 140161632 140161642 GTGGGGCTGAG - indel 2908.73 0/1 99 58 16 42 0.72 intronic rs141797959 NELFB AU NM_015456 exon10 c.11730-59_11730-49delGTGGGGCTGAG 0.0223642 0.0218 Uncertain 9_140161647_G->A 9 140161647 140161647 G A snp 646.77 0/1 99 63 34 29 0.46 intronic rs115604241 NELFB AU NM_015456 exon10 c.11730-44G>A Uncertain 9_140161871_C->T 9 140161871 140161871 C T snp 308.77 0/1 99 18 7 11 0.61 intronic rs9802270 NELFB AU NM_015456 exon10 c.11837+73C>T 0.615216 0.4792 Uncertain 9_140161909_G->T 9 140161909 140161909 G T snp 174.77 0/1 87 10 3 7 0.7 intronic rs9802698 NELFB AU NM_015456 exon10 c.11837+111G>T 0.630591 0.4931 Uncertain 9_140167022_G->A 9 140167022 140167022 G A snp 1247.77 0/1 99 124 66 58 0.47 exonic rs3204123 NELFB AU synonymous SNV NM_015456 exon12 c.G1551A p.P517P 0.615216 0.4782 0.686365 0.7146 0.5156 Uncertain 9_140202194_T->C 9 140202194 140202194 T C snp 1182.77 1/1 84 44 0 44 1.0 intronic rs13288421 EXD3 AU NM_017820 exon2 c.697+96T>C 0.840256 0.995 Uncertain 9_140217987_A->C 9 140217987 140217987 A C snp 216.84 1/1 18 6 0 6 1.0 intronic rs530226156 EXD3 AU NM_017820 exon4 c.16775-189A>C 0.384984 0.4534 Uncertain 9_140218010_C->- 9 140218010 140218010 C - indel 599.73 1/1 48 16 0 16 1.0 intronic rs149903662 EXD3 AU NM_017820 exon4 c.16775-166delC 0.457268 0.5119 Uncertain 9_140218025_C->T 9 140218025 140218025 C T snp 920.77 1/1 69 27 0 27 1.0 intronic rs73668241 EXD3 AU NM_017820 exon4 c.16775-151C>T Uncertain 9_140218304_C->T 9 140218304 140218304 C T snp 914.77 0/1 99 65 24 41 0.63 exonic rs771592009 EXD3 AU nonsynonymous SNV NM_017820 exon19 c.G2057A p.R686Q 6.211e-05 0.0004 0.31 T 1.000 N -0.864 T 0.768 T 0.201 P Pathogenic 9_140242726_C->T 9 140242726 140242726 C T snp 821.77 0/1 99 86 47 39 0.45 intronic rs58941960 EXD3 AU NM_017820 exon6 c.41289+36C>T 0.11262 0.0427 0.106779 0.1564 0.0599 Uncertain 9_140243844_C->T 9 140243844 140243844 C T snp 1753.77 0/1 99 139 65 74 0.53 exonic rs28545754 EXD3 AU nonsynonymous SNV NM_017820 exon15 c.G1634A p.C545Y 0.579473 0.8403 0.533503 0.6459 0.8360 1 T 0.0 P -0.946 T 0.094 T 0.015 T Pathogenic 9_140243968_C->T 9 140243968 140243968 C T snp 956.77 0/1 99 63 27 36 0.57 exonic rs79140116 EXD3 AU nonsynonymous SNV NM_017820 exon15 c.G1510A p.V504M 0.104633 0.0427 0.114575 0.1660 0.0563 0.11 T 0.0 P -1.108 T 0.015 T 0.0 T ID=COSM4163641,COSM4163640;OCCURENCE=1(thyroid) Pathogenic 9_140246050_T->G 9 140246050 140246050 T G snp 2198.77 1/1 99 67 0 67 1.0 intronic rs11534416 EXD3 AU NM_017820 exon10 c.44579+70T>G 0.976238 0.998 Uncertain 9_140247143_T->G 9 140247143 140247143 T G snp 1780.77 1/1 99 62 0 62 1.0 exonic rs7020732 EXD3 AU nonsynonymous SNV NM_017820 exon11 c.A966C p.E322D 0.933906 0.998 0.912613 0.9067 0.9989 0.73 T 0.0 P -1.008 T 0.0 T 0.0 T Pathogenic 9_140249253_A->C 9 140249253 140249253 A C snp 851.77 1/1 63 25 0 25 1.0 intronic rs11537108 EXD3 AU NM_017820 exon14 c.47824+28A>C 0.834665 0.877 0.622454 0.8275 0.8815 Uncertain 9_140249254_G->A 9 140249254 140249254 G A snp 235.77 0/1 99 25 16 9 0.36 intronic rs11562624 EXD3 AU NM_017820 exon14 c.47824+29G>A 0.676917 0.8413 0.040758 0.6730 0.8306 Uncertain 9_140250633_G->A 9 140250633 140250633 G A snp 34.77 0/1 63 7 5 2 0.29 intronic rs13293922 EXD3 AU NM_017820 exon15 c.49318-86G>A 0.551318 0.8313 Uncertain 9_140250818_C->T 9 140250818 140250818 C T snp 1962.77 1/1 99 78 0 78 1.0 exonic rs7389423 EXD3 AU nonsynonymous SNV NM_017820 exon8 c.G659A p.R220Q 0.920727 0.998 0.891950 0.8894 0.9999 1 T 0.180 P -0.984 T 0.005 T 0.0 T Pathogenic 9_140262218_T->C 9 140262218 140262218 T C snp 596.77 1/1 45 19 0 19 1.0 intronic rs11533157 EXD3 AU NM_017820 exon17 c.60986-169T>C 0.917732 0.8899 Uncertain 9_140262424_C->T 9 140262424 140262424 C T snp 1161.77 0/1 99 110 55 55 0.5 exonic rs11507683 EXD3 AU synonymous SNV NM_017820 exon6 c.G480A p.A160A 0.0864617 0.0288 0.123864 0.1016 0.0257 Uncertain 9_140262426_C->T 9 140262426 140262426 C T snp 1132.77 0/1 99 106 54 52 0.49 exonic rs11533158 EXD3 AU nonsynonymous SNV NM_017820 exon6 c.G478A p.A160T 0.70607 0.8522 0.649076 0.6977 0.8536 1 T 0.002 P -1.000 T 0.002 T 0.0 T Pathogenic 9_140268183_T->C 9 140268183 140268183 T C snp 2094.77 1/1 99 61 0 61 1.0 intronic rs6606585 EXD3 AU NM_017820 exon19 c.66650+132T>C 0.999601 1 Uncertain 9_140277794_T->C 9 140277794 140277794 T C snp 555.77 0/1 99 104 73 31 0.3 exonic rs80074261 EXD3 AU nonsynonymous SNV NM_017820 exon3 c.A91G p.T31A 0.0804712 0.123 0.068871 0.0709 0.1740 0.78 T 1.000 N -1.052 T 0.39 T 0.133 T Pathogenic 9_140277826_C->T 9 140277826 140277826 C T snp 2409.77 1/1 99 96 0 96 1.0 exonic rs13291830 EXD3 AU nonsynonymous SNV NM_017820 exon3 c.G59A p.R20Q 0.545327 0.3849 0.654137 0.5744 0.4496 0.57 T 1.000 P -1.004 T 0.003 T 0.001 T ID=COSM4163645,COSM4163644;OCCURENCE=1(thyroid) Pathogenic 9_140287562_G->A 9 140287562 140287562 G A snp 255.77 0/1 99 20 11 9 0.45 intronic rs189191720 EXD3 AU NM_017820 exon21 c.88353-2192G>A 0.00339457 0.0169 0.0002 0.0053 Uncertain 9_140289696_A->C 9 140289696 140289696 A C snp 318.77 0/1 99 55 39 16 0.29 intronic rs9695232 EXD3 AU NM_017820 exon21 c.88353-58A>C 0.604433 0.3621 Uncertain 9_140322404_C->G 9 140322404 140322404 C G snp 327.77 0/1 99 31 16 15 0.48 intronic rs28580293 NOXA1 AU NM_001256068 exon3 c.4503-80C>G 0.391374 0.6111 Uncertain 9_140322640_C->T 9 140322640 140322640 C T snp 46.77 0/1 72 5 2 3 0.6 intronic rs28553346 NOXA1 AU NM_001256068 exon3 c.4612+47C>T 0.345048 0.6111 0.249318 0.3339 0.6407 Uncertain 9_140322645_G->A 9 140322645 140322645 G A snp 43.77 0/1 72 5 3 2 0.4 intronic rs35406628 NOXA1 AU NM_001256068 exon3 c.4612+52G>A 0.214856 0.25 0.243416 0.2701 0.2669 Uncertain 9_140323251_C->T 9 140323251 140323251 C T snp 37.77 0/1 66 7 5 2 0.29 intronic rs11535664 NOXA1 AU NM_001256068 exon4 c.5352-82C>T 0.332668 0.6151 Uncertain 9_140323906_G->C 9 140323906 140323906 G C snp 920.77 0/1 99 90 47 43 0.48 intronic rs9697151 NOXA1 AU NM_006647 exon5 c.5854+71G>C 0.356829 0.6081 Uncertain 9_140325898_G->A 9 140325898 140325898 G A snp 423.77 1/1 33 11 0 11 1.0 intronic rs7467896 NOXA1 AU NM_001256068 exon6 c.7812+105G>A 0.932508 0.998 Uncertain 9_140327663_C->T 9 140327663 140327663 C T snp 1281.77 0/1 99 97 42 55 0.57 exonic rs34155071 NOXA1 AU nonsynonymous SNV NM_001256068 exon8 c.C689T p.P230L 0.212061 0.247 0.241179 0.3065 0.2738 0.46 T 0.0 P -1.053 T 0.004 T 0.002 T Pathogenic 9_140328077_C->T 9 140328077 140328077 C T snp 855.77 0/1 99 70 34 36 0.51 intronic rs35138580 NOXA1 AU NM_001256068 exon9 c.10078+18C>T 0.391973 0.6141 0.294288 0.3572 0.6573 Uncertain 9_140329265_G->C 9 140329265 140329265 G C snp 186.77 0/1 99 16 9 7 0.44 UTR3 rs28725243 ENTPD8 AU 0.377596 0.7113 Uncertain 9_140330976_T->C 9 140330976 140330976 T C snp 3468.77 1/1 99 129 0 129 1.0 exonic rs13297080 ENTPD8 AU synonymous SNV NM_001033113 exon6 c.A783G p.V261V 0.943291 0.9891 0.921239 0.9407 0.9862 Uncertain 9_140331833_A->G 9 140331833 140331833 A G snp 643.77 1/1 48 18 0 18 1.0 intronic rs9414731 ENTPD8 AU NM_001033113 exon7 c.2396+72A>G 0.865815 0.8919 Uncertain 9_140332478_A->G 9 140332478 140332478 A G snp 7537.77 1/1 99 250 1 249 1.0 exonic rs6606582 ENTPD8 AU nonsynonymous SNV NM_001033113 exon3 c.T185C p.L62P 0.969649 0.998 0.951692 0.9490 0.9998 1 T 0.945 P -1.014 T 0.0 T 0.0 T Pathogenic 9_140344328_G->A 9 140344328 140344328 G A snp 2208.77 0/1 99 172 73 99 0.58 intronic rs28699612 NSMF AU NM_001178064 exon3 c.529-46G>A 0.228035 0.4603 0.158028 0.2196 0.4760 Uncertain 9_140349874_C->G 9 140349874 140349874 C G snp 2091.77 1/1 99 71 0 71 1.0 intronic rs28585539 NSMF AU NM_001178064 exon10 c.5914+115C>G 0.315096 0.63 Uncertain 9_140356422_G->C 9 140356422 140356422 G C snp 2589.77 1/1 99 91 0 91 1.0 exonic rs28452008 PNPLA7 AU synonymous SNV NM_152286 exon31 c.C3642G p.L1214L 0.489617 0.8204 0.352324 0.4638 0.8146 ID=COSM3763820;OCCURENCE=1(thyroid),1(large_intestine) Uncertain 9_140357848_G->C 9 140357848 140357848 G C snp 3224.61 1/1 99 114 0 114 1.0 intronic rs2275781 PNPLA7 AU NM_001098537 exon7 c.3022-18G>C 0.361222 0.6121 0.285076 0.3743 0.6278 Uncertain 9_140357972_A->G 9 140357972 140357972 A G snp 3957.77 1/1 99 153 0 153 1.0 exonic rs1891627 PNPLA7 AU nonsynonymous SNV NM_152286 exon28 c.T3163C p.W1055R 0.997204 1 0.998688 0.9972 1 1 T 0.021 P -1.000 T 0.0 T 0.0 T Pathogenic 9_140372570_G->A 9 140372570 140372570 G A snp 1707.77 0/1 99 169 89 80 0.47 exonic rs3812499 PNPLA7 AU nonsynonymous SNV NM_152286 exon24 c.C2723T p.P908L 0.0259585 0.122 0.000782 0.0158 0.2107 0.01 T 1 D -1.158 T 1.0 D 0.876 D Pathogenic 9_140374861_A->G 9 140374861 140374861 A G snp 3483.77 1/1 99 130 0 130 1.0 exonic rs1891630 PNPLA7 AU nonsynonymous SNV NM_152286 exon22 c.T2408C p.V803A 1 1 1 1 1 T 0.001 P -0.968 T 0.0 T 0.0 T Pathogenic 9_140379259_C->T 9 140379259 140379259 C T snp 653.77 0/1 99 45 18 27 0.6 intronic rs117995682 PNPLA7 AU NM_001098537 exon15 c.24344+71C>T 0.00858626 0.0387 Uncertain 9_140392494_T->C 9 140392494 140392494 T C snp 820.77 0/1 99 64 35 29 0.45 intronic rs4962232 PNPLA7 AU NM_001098537 exon19 c.37721-71T>C 0.503195 0.6637 Uncertain 9_140392616_G->A 9 140392616 140392616 G A snp 3287.77 0/1 99 250 106 144 0.58 exonic rs61754920 PNPLA7 AU synonymous SNV NM_152286 exon16 c.C1764T p.I588I 0.191693 0.2341 0.167000 0.1225 0.2172 ID=COSM3763827;OCCURENCE=1(large_intestine),1(thyroid) Uncertain 9_140392842_C->T 9 140392842 140392842 C T snp 108.77 0/1 99 8 4 4 0.5 intronic rs151097090 PNPLA7 AU NM_001098537 exon19 c.37853+145C>T 0.00459265 0.0208 Uncertain 9_140395103_G->T 9 140395103 140395103 G T snp 697.77 0/1 99 64 31 33 0.52 intronic rs71510827 PNPLA7 AU NM_001098537 exon20 c.40298-39G>T 0.185503 0.249 0.126199 0.1432 0.2458 Uncertain 9_140399983_T->C 9 140399983 140399983 T C snp 309.78 1/1 24 8 0 8 1.0 intronic rs7037200 PNPLA7 AU NM_001098537 exon22 c.45221-82T>C 0.675319 0.744 Uncertain 9_140400275_T->C 9 140400275 140400275 T C snp 3812.77 1/1 99 119 0 119 1.0 intronic rs3750381 PNPLA7 AU NM_001098537 exon22 c.45368+63T>C 0.715655 0.8829 Uncertain 9_140409726_T->C 9 140409726 140409726 T C snp 1110.77 1/1 81 35 0 35 1.0 intronic rs843967 PNPLA7 AU NM_001098537 exon24 c.54986-104T>C 0.709864 0.875 Uncertain 9_140414410_C->T 9 140414410 140414410 C T snp 1556.77 0/1 99 125 63 62 0.5 exonic rs11137410 PNPLA7 AU nonsynonymous SNV NM_152286 exon10 c.G968A p.R323Q 0.132588 0.2143 0.129248 0.1150 0.2061 0.72 T 0.0 P -1.103 T 0.01 T 0.002 T ID=COSM3763828;OCCURENCE=1(large_intestine) Pathogenic 9_140416025_A->G 9 140416025 140416025 A G snp 1304.77 0/1 99 163 109 54 0.33 intronic rs2298172 PNPLA7 AU NM_001098537 exon26 c.61243-62A>G 0.229034 0.2341 Uncertain 9_140437392_C->T 9 140437392 140437392 C T snp 37.77 0/1 66 6 3 3 0.5 intronic rs3737320 PNPLA7 AU NM_001098537 exon29 c.82409+139C>T 0.335264 0.6855 Uncertain 9_140459754_T->G 9 140459754 140459754 T G snp 261.77 0/1 99 17 9 8 0.47 intronic DPH7 AU NM_138778 exon4 c.9916+148T>G Uncertain 9_140459782_G->T 9 140459782 140459782 G T snp 296.78 1/1 24 8 0 8 1.0 intronic rs821319 DPH7 AU NM_138778 exon4 c.9916+176G>T Uncertain 9_140483076_G->A 9 140483076 140483076 G A snp 563.77 0/1 99 72 48 24 0.33 intronic rs2259657 ZMYND19 AU NM_138462 exon5 c.6116-34G>A 0.540935 0.1617 0.632477 0.5388 0.1609 Uncertain 9_140605334_T->C 9 140605334 140605334 T C snp 1291.77 0/1 99 135 79 56 0.41 intronic rs7039441 EHMT1 AD NM_024757 exon2 c.91938-84T>C 0.535743 0.8304 Uncertain 9_140605355_A->C 9 140605355 140605355 A C snp 1454.77 0/1 99 175 104 71 0.41 intronic rs4072654 EHMT1 AD NM_024757 exon2 c.91938-63A>C 0.490615 0.8482 0.408852 Uncertain 9_140611140_G->A 9 140611140 140611140 G A snp 2077.77 0/1 99 172 87 85 0.49 exonic rs78104547 EHMT1 AD nonsynonymous SNV NM_024757 exon3 c.G148A p.A50T 0.0109824 0.0536 0.0043 0.0559 0.32 T 1 N -1.096 T 0.105 T 0.031 T Pathogenic 9_140646674_G->A 9 140646674 140646674 G A snp 712.77 0/1 99 50 23 27 0.54 intronic rs117256904 EHMT1 AD NM_024757 exon7 c.133302-108G>A 0.0105831 0.0516 Uncertain 9_140705796_G->A 9 140705796 140705796 G A snp 432.77 1/1 33 14 0 14 1.0 intronic rs11789631 EHMT1 AD NM_024757 exon19 c.192432-116G>A 0.522963 0.8859 Uncertain 9_140706127_G->A 9 140706127 140706127 G A snp 3195.8 1/1 99 108 0 108 1.0 intronic rs11789684 EHMT1 AD NM_024757 exon19 c.192587+60G>A 0.530152 0.8879 Uncertain 9_140708768_T->G 9 140708768 140708768 T G snp 6536.77 1/1 99 230 0 230 1.0 intronic rs7851955 EHMT1 AD NM_024757 exon22 c.195402-114T>G 0.521965 0.8879 Uncertain 9_140740856_A->C 9 140740856 140740856 A C snp 666.77 1/1 54 20 0 20 1.0 intergenic rs11137259 MIR602 AU Uncertain 9_140740886_A->T 9 140740886 140740886 A T snp 1068.77 1/1 84 35 1 34 0.97 intergenic rs11137260 MIR602 AU Uncertain 9_140777105_A->C 9 140777105 140777105 A C snp 933.77 0/1 99 82 45 37 0.45 ncRNA_intronic rs4072563 LOC100133077 AU 0.17492 0.1964 Uncertain 9_140777306_C->G 9 140777306 140777306 C G snp 2378.77 0/1 99 196 106 90 0.46 exonic rs4422842 CACNA1B AD nonsynonymous SNV NM_000718 exon3 c.C501G p.N167K 0.4999 0.4981 0.02 T 1 D 1.009 D 1.0 D 0.999 D ID=COSM4007112;OCCURENCE=1(thyroid),2(urinary_tract) Pathogenic 9_140777370_A->C 9 140777370 140777370 A C snp 2128.77 0/1 99 110 35 75 0.68 ncRNA_exonic rs1110146 LOC100133077 AU 0.609504 0.5581 0.5234 Uncertain 9_140777432_C->T 9 140777432 140777432 C T snp 268.77 0/1 99 28 17 11 0.39 ncRNA_exonic rs7863142 LOC100133077 AU Uncertain 9_140786516_C->T 9 140786516 140786516 C T snp 3580.77 0/1 99 250 103 147 0.59 ncRNA_exonic rs12004975 LOC100133077 AU 0.153554 0.1766 0.0604 0.1814 0 D 0.000 P -0.959 T Uncertain 9_140786918_T->C 9 140786918 140786918 T C snp 34.77 0/1 63 7 5 2 0.29 ncRNA_exonic rs4076712 LOC100133077 AU 0.55631 0.6151 0.5217 0.6933 Uncertain 9_140866007_G->A 9 140866007 140866007 G A snp 1493.77 0/1 99 116 57 59 0.51 exonic rs77970942 CACNA1B AD synonymous SNV NM_000718 exon11 c.G1506A p.V502V 0.0497204 0.1627 0.000700 0.0229 0.1610 Uncertain 9_140878616_G->A 9 140878616 140878616 G A snp 2168.77 0/1 99 190 92 98 0.52 exonic rs11137331 CACNA1B AD synonymous SNV NM_000718 exon13 c.G1683A p.V561V 0.058107 0.1974 0.000868 0.0468 0.2991 Uncertain 9_140881314_A->C 9 140881314 140881314 A C snp 1200.77 0/1 99 94 41 53 0.56 intronic rs7034745 CACNA1B AD NM_001243812 exon15 c.108921+8A>C 0.421526 0.6538 0.308202 0.2662 0.6651 Uncertain 9_140901146_A->G 9 140901146 140901146 A G snp 669.77 0/1 99 35 14 21 0.6 intronic rs2290580 CACNA1B AD NM_001243812 exon16 c.128833-72A>G 0.429313 0.6419 Uncertain 9_140904640_G->A 9 140904640 140904640 G A snp 307.77 0/1 99 23 13 10 0.43 intronic rs7040050 CACNA1B AD NM_001243812 exon17 c.132144+111G>A 0.369808 0.627 Uncertain 9_140911670_C->T 9 140911670 140911670 C T snp 757.77 0/1 99 82 47 35 0.43 intronic rs7028989 CACNA1B AD NM_001243812 exon18 c.135302+3983C>T 0.396765 0.629 0.292640 0.2351 0.6388 Uncertain 9_140911822_T->C 9 140911822 140911822 T C snp 329.77 0/1 99 22 9 13 0.59 intronic rs7042117 CACNA1B AD NM_001243812 exon18 c.135302+4135T>C 0.408347 0.6448 Uncertain 9_140911831_G->T 9 140911831 140911831 G T snp 303.77 0/1 99 20 8 12 0.6 intronic rs118126774 CACNA1B AD NM_001243812 exon18 c.135302+4144G>T 0.0503195 0.1647 Uncertain 9_140917779_G->T 9 140917779 140917779 G T snp 541.77 0/1 99 64 35 29 0.45 exonic rs7873074 CACNA1B AD nonsynonymous SNV NM_000718 exon19 c.G2584T p.A862S 0.426917 0.6339 0.2824 0.6553 0.8 T 0.0 P -0.902 T 0.761 T 0.141 P ID=COSM4163656,COSM4163657;OCCURENCE=1(thyroid) Pathogenic 9_140918171_GGAGAAGGAGACCAC->- 9 140918171 140918185 GGAGAAGGAGACCAC - indel 2889.73 0/1 99 70 48 22 0.31 exonic rs145816559 CACNA1B AD nonframeshift deletion NM_000718 exon19 c.2976_2990del p.992_997del 0.397364 0.6349 0.234057 0.2534 0.6298 ID=COSM455673;OCCURENCE=1(breast) Uncertain 9_140918300_G->C 9 140918300 140918300 G C snp 511.77 0/1 99 59 35 24 0.41 intronic rs6559259 CACNA1B AD NM_001243812 exon19 c.145878+37G>C 0.386382 0.628 0.216036 0.2547 0.6744 Uncertain 9_140938183_A->G 9 140938183 140938183 A G snp 576.77 0/1 99 53 32 21 0.4 ncRNA_exonic rs3750506 LOC101928786 AU 0.457668 0.6627 0.348908 0.2831 0.6660 Uncertain 9_140938438_-->A 9 140938438 140938438 - A indel 3181.81 0/1 99 197 104 93 0.47 ncRNA_intronic rs3833709 LOC101928786 AU 0.222444 0.2063 Uncertain 9_140946701_-->GTGTGTGCGTGTGT 9 140946701 140946701 - GTGTGTGCGTGTGT indel 2250.73 0/1 99 33 9 24 0.73 intronic rs140068697 CACNA1B AD NM_001243812 exon25 c.174255+61insGTGTGTGCGTGTGT Uncertain 9_140952690_G->A 9 140952690 140952690 G A snp 2005.77 0/1 99 148 68 80 0.54 exonic rs2229950 CACNA1B AD synonymous SNV NM_000718 exon28 c.G4296A p.L1432L 0.199681 0.1855 0.141360 0.0699 0.1922 ID=COSM4163658,COSM4163659;OCCURENCE=1(thyroid) Uncertain 9_140952916_T->C 9 140952916 140952916 T C snp 798.77 0/1 99 47 22 25 0.53 intronic rs2278975 CACNA1B AD NM_001243812 exon29 c.180635-104T>C 0.257388 0.1895 Uncertain 9_140952968_C->T 9 140952968 140952968 C T snp 2589.77 0/1 99 186 90 96 0.52 intronic rs2278976 CACNA1B AD NM_001243812 exon29 c.180635-52C>T 0.0211661 0.1012 Uncertain 9_140953297_G->A 9 140953297 140953297 G A snp 141.77 0/1 99 9 4 5 0.56 intronic rs10780199 CACNA1B AD NM_001243812 exon29 c.180800+112G>A 0.473243 0.6587 Uncertain 9_140964281_T->C 9 140964281 140964281 T C snp 2220.77 0/1 99 175 88 87 0.5 intronic rs6559264 CACNA1B AD NM_001243812 exon32 c.195552-3656T>C 0.213259 0.1954 0.138414 Uncertain 9_140972887_G->A 9 140972887 140972887 G A snp 301.77 0/1 82 13 3 10 0.77 intronic rs2290582 CACNA1B AD NM_001243812 exon35 c.200325+177G>A 0.0680911 0.1766 Uncertain 9_140997350_G->- 9 140997350 140997350 G - indel 551.73 0/1 99 33 15 18 0.55 intronic rs35796437 CACNA1B AD NM_001243812 exon37 c.224874+91delG 0.428914 0.5327 Uncertain 9_141006667_G->A 9 141006667 141006667 G A snp 38.77 0/1 33 3 1 2 0.67 intronic rs9918955 CACNA1B AD NM_001243812 exon39 c.234464-182G>A 0.0746805 0.2073 Uncertain 9_141012914_G->T 9 141012914 141012914 G T snp 38.77 0/1 67 5 3 2 0.4 intronic rs117643349 CACNA1B AD NM_001243812 exon43 c.240718-189G>T 0.0495208 0.1637 Uncertain 9_141014512_G->A 9 141014512 141014512 G A snp 83.77 0/1 69 5 2 3 0.6 intronic rs573649169 CACNA1B AD NM_001243812 exon44 c.242231-104G>A 0.0670927 0.1667 Uncertain 9_141016262_T->G 9 141016262 141016262 T G snp 926.77 0/1 99 119 77 42 0.35 exonic rs2278973 CACNA1B AD synonymous SNV NM_000718 exon46 c.T6831G p.T2277T 0.910743 0.8075 0.927000 0.9030 0.7974 0.71 T 0.828 P -1.024 T ID=COSM3763836;OCCURENCE=1(large_intestine) Likely benign 9_141016531_C->T 9 141016531 141016531 C T snp 123.78 0/1 27 5 1 4 0.8 UTR3 rs2229949 CACNA1B AD 0.722843 0.7827 Uncertain 9_141069844_T->C 9 141069844 141069844 T C snp 451.77 0/1 99 71 48 23 0.32 ncRNA_exonic rs62581042 TUBBP5 AU 0.4134 0.4874 Uncertain 9_141069883_G->A 9 141069883 141069883 G A snp 315.77 0/1 99 95 79 16 0.17 ncRNA_exonic rs146937777 TUBBP5 AU 0.0333 0.2137 Uncertain 9_141069942_C->T 9 141069942 141069942 C T snp 36.77 0/1 65 102 81 21 0.21 ncRNA_intronic rs202068230 TUBBP5 AU 0.0008 0.0018 Uncertain 9_141069952_T->C 9 141069952 141069952 T C snp 1134.77 0/1 99 93 40 53 0.57 ncRNA_intronic rs9410185 TUBBP5 AU 0.845447 0.6974 0.8578 0.6622 Uncertain 9_141069956_C->T 9 141069956 141069956 C T snp 77.77 0/1 99 91 70 21 0.23 ncRNA_intronic rs111638596 TUBBP5 AU 0.0115815 0.0099 0.0009 0.0051 Uncertain 9_141069978_C->A 9 141069978 141069978 C A snp 767.77 0/1 99 68 34 34 0.5 ncRNA_intronic rs141547171 TUBBP5 AU Uncertain 9_141069993_C->T 9 141069993 141069993 C T snp 705.77 0/1 99 53 25 28 0.53 ncRNA_intronic rs200245769 TUBBP5 AU Uncertain 9_141070069_C->T 9 141070069 141070069 C T snp 103.77 0/1 99 11 7 4 0.36 ncRNA_exonic rs370794960 TUBBP5 AU 0.0009 0.0006 Uncertain 10_95074_G->A 10 95074 95074 G A snp 230.77 0/1 99 20 10 10 0.5 intronic TUBB8 AD NM_177987 exon4 c.2125-47G>A 0.436102 0.2014 0.564185 0.4540 0.2740 Uncertain 10_95226_A->T 10 95226 95226 A T snp 809.84 0/1 18 40 8 32 0.8 upstream TUBB8 AD 0.95028 0.9722 0.9617 0.9817 Uncertain 10_95229_C->T 10 95229 95229 C T snp 803.84 0/1 18 39 8 31 0.79 upstream TUBB8 AD 0.95028 0.9722 0.9598 0.9820 Uncertain 10_95289_C->A 10 95289 95289 C A snp 38.77 0/1 67 14 6 8 0.57 upstream TUBB8 AD Uncertain 10_282897_C->T 10 282897 282897 C T snp 1634.77 0/1 99 153 77 76 0.5 intronic rs4600135 ZMYND11 AD NM_001202464 exon4 c.56903+42C>T 0.912141 0.9454 0.931954 0.9559 0.9407 Uncertain 10_285200_T->G 10 285200 285200 T G snp 452.77 0/1 99 27 11 16 0.59 intronic rs7919436 ZMYND11 AD NM_001202464 exon6 c.59425-177T>G 0.688299 0.8313 Uncertain 10_285479_-->TGTT 10 285479 285479 - TGTT indel 1506.73 0/1 99 97 64 33 0.34 intronic rs10655220 ZMYND11 AD NM_001202464 exon6 c.59513+14insTGTT 0.67472 0.8264 0.6127 0.7921 Uncertain 10_288184_-->AA 10 288184 288184 - AA indel 475.73 0/1 99 55 29 26 0.47 intronic rs34123561 ZMYND11 AD NM_001202464 exon9 c.62127+105insAA 0.326877 0.4435 Uncertain 10_292927_C->A 10 292927 292927 C A snp 313.77 0/1 99 24 14 10 0.42 intronic rs2303990 ZMYND11 AD NM_001202464 exon10 c.66961+14C>A 0.90595 0.9454 0.922190 0.9522 0.9398 Uncertain 10_294145_T->C 10 294145 294145 T C snp 196.77 0/1 60 8 2 6 0.75 intronic rs3132006 ZMYND11 AD NM_001202464 exon12 c.68323-130T>C 0.913738 0.9454 Uncertain 10_294165_T->C 10 294165 294165 T C snp 314.77 0/1 49 12 2 10 0.83 intronic rs10903752 ZMYND11 AD NM_001202464 exon12 c.68323-110T>C 0.384984 0.4722 Uncertain 10_294953_A->G 10 294953 294953 A G snp 765.77 0/1 99 85 50 35 0.41 exonic rs1017361 ZMYND11 AD synonymous SNV NM_006624 exon14 c.A1611G p.E537E 0.935903 0.9454 0.951330 0.9615 0.9414 Uncertain 10_323283_A->G 10 323283 323283 A G snp 1829.77 0/1 99 166 91 75 0.45 exonic rs3740304 DIP2C AU synonymous SNV NM_014974 exon37 c.T4653C p.Y1551Y 0.284145 0.2381 0.264493 0.2704 0.2448 Uncertain 10_329183_G->- 10 329183 329183 G - indel 669.73 1/1 66 22 0 22 1.0 intronic rs398074835 DIP2C AU NM_014974 exon3 c.5947-28delG 0.743411 0.8849 0.981709 0.7162 0.8934 Uncertain 10_329493_C->A 10 329493 329493 C A snp 797.77 0/1 99 69 39 30 0.43 intronic rs3815985 DIP2C AU NM_014974 exon3 c.6122+107C>A 0.241214 0.2341 Uncertain 10_370977_A->G 10 370977 370977 A G snp 1369.77 1/1 99 35 0 35 1.0 intronic rs3123241 DIP2C AU NM_014974 exon7 c.49681-1968A>G 0.975839 1 0.972921 0.9931 0.9995 Uncertain 10_371001_C->G 10 371001 371001 C G snp 695.77 1/1 54 18 0 18 1.0 intronic rs3123240 DIP2C AU NM_014974 exon7 c.49681-1944C>G 0.945088 0.9653 0.953497 0.9821 0.9694 Uncertain 10_375571_GGAGCTCAGCAAGGCT->- 10 375571 375586 GGAGCTCAGCAAGGCT - indel 5628.73 0/1 99 123 32 91 0.74 intronic rs3832678 DIP2C AU NM_014974 exon8 c.52277+30_52277+45delGGAGCTCAGCAAGGCT 0.413663 0.4273 0.3102 Uncertain 10_387060_G->A 10 387060 387060 G A snp 1280.77 1/1 93 45 0 45 1.0 intronic rs7904155 DIP2C AU NM_014974 exon9 c.63874-78G>A 0.958466 1 Uncertain 10_394714_G->A 10 394714 394714 G A snp 6206.77 1/1 99 244 0 244 1.0 intronic rs4880610 DIP2C AU NM_014974 exon12 c.71438+12G>A 0.980631 1 0.976242 0.9931 1 Uncertain 10_395266_T->C 10 395266 395266 T C snp 2958.77 1/1 99 103 0 103 1.0 splicing rs4880611 DIP2C AU NM_014974 exon13 c.72006-4T>C 0.980631 1 0.976469 0.9938 1 Pathogenic 10_395463_G->A 10 395463 395463 G A snp 2514.77 1/1 99 90 0 90 1.0 intronic rs4242754 DIP2C AU NM_014974 exon13 c.72130+69G>A 0.980631 1 Uncertain 10_410825_G->A 10 410825 410825 G A snp 842.77 1/1 63 27 0 27 1.0 intronic rs10795053 DIP2C AU NM_014974 exon18 c.87258+303G>A 0.98103 0.999 Uncertain 10_412449_A->G 10 412449 412449 A G snp 1102.77 0/1 99 73 33 40 0.55 intronic rs1133113 DIP2C AU NM_014974 exon19 c.89087+98A>G 0.371805 0.3234 Uncertain 10_428503_A->G 10 428503 428503 A G snp 2294.77 1/1 99 89 0 89 1.0 intronic rs4881200 DIP2C AU NM_014974 exon21 c.105322-83A>G 0.98742 1 0.9942 1 Uncertain 10_429932_C->T 10 429932 429932 C T snp 544.77 0/1 99 25 7 18 0.72 intronic rs7092412 DIP2C AU NM_014974 exon22 c.106702-34C>T 0.447085 0.4841 0.392802 0.4359 0.5025 Uncertain 10_429977_G->A 10 429977 429977 G A snp 1113.77 0/1 99 65 23 42 0.65 exonic rs10904083 DIP2C AU synonymous SNV NM_014974 exon16 c.C1866T p.G622G 0.38139 0.4623 0.320852 0.3859 0.4607 1.000 P -0.997 T Likely benign 10_435880_G->C 10 435880 435880 G C snp 424.77 0/1 99 36 21 15 0.42 intronic rs4881219 DIP2C AU NM_014974 exon25 c.112666-50G>C 0.564497 0.6528 0.479240 0.5522 0.6558 Uncertain 10_436547_G->A 10 436547 436547 G A snp 54.74 1/1 6 2 0 2 1.0 intronic rs11252090 DIP2C AU NM_014974 exon27 c.113415-132G>A 0.283147 0.2877 Uncertain 10_436848_A->G 10 436848 436848 A G snp 749.77 0/1 99 74 41 33 0.45 intronic rs10904093 DIP2C AU NM_014974 exon27 c.113539+45A>G 0.290935 0.3016 0.366754 0.3929 0.3075 Uncertain 10_444997_C->T 10 444997 444997 C T snp 2015.77 0/1 99 155 72 83 0.54 intronic rs6560836 DIP2C AU NM_014974 exon28 c.121784-51C>T 0.627995 0.6925 0.545058 Uncertain 10_445061_C->T 10 445061 445061 C T snp 5795.77 1/1 99 224 2 222 0.99 exonic rs6560837 DIP2C AU synonymous SNV NM_014974 exon10 c.G1248A p.P416P 0.979433 0.9861 0.975242 0.9901 0.9822 Uncertain 10_445349_G->A 10 445349 445349 G A snp 394.77 1/1 30 11 0 11 1.0 intronic rs4880636 DIP2C AU NM_014974 exon28 c.121895+190G>A 0.979034 0.9861 Uncertain 10_454694_C->T 10 454694 454694 C T snp 46.74 1/1 6 2 0 2 1.0 intronic rs11252213 DIP2C AU NM_014974 exon29 c.131601-171C>T 0.634984 0.7063 Uncertain 10_459940_G->A 10 459940 459940 G A snp 965.77 0/1 99 75 36 39 0.52 exonic rs4881274 DIP2C AU synonymous SNV NM_014974 exon8 c.C970T p.L324L 0.626797 0.6915 0.546901 0.5928 0.6900 Uncertain 10_464904_G->A 10 464904 464904 G A snp 119.77 0/1 99 7 3 4 0.57 intronic rs11252313 DIP2C AU NM_014974 exon32 c.141740-100G>A 0.0553115 0.1379 Uncertain 10_468748_C->T 10 468748 468748 C T snp 223.84 1/1 18 8 0 8 1.0 intronic rs4881290 DIP2C AU NM_014974 exon33 c.145499-15C>T 0.980631 1 0.974781 0.9934 1 Uncertain 10_518548_CT->- 10 518548 518549 CT - indel 2380.73 0/1 99 111 53 58 0.52 intronic rs10610683 DIP2C AU NM_014974 exon35 c.195225+59_195225+60delCT 0.467851 0.6409 Uncertain 10_530644_G->A 10 530644 530644 G A snp 1204.77 1/1 87 39 0 39 1.0 intronic rs1539231 DIP2C AU NM_014974 exon36 c.209134-1754G>A 0.794129 0.87 Uncertain 10_687569_C->T 10 687569 687569 C T snp 1664.77 1/1 99 66 0 66 1.0 intronic rs1631975 DIP2C AU NM_014974 exon37 c.412169-47864C>T 0.97484 1 Uncertain 10_687817_G->T 10 687817 687817 G T snp 56.74 1/1 6 3 0 3 1.0 intronic rs2386712 DIP2C AU NM_014974 exon37 c.412169-47616G>T 0.982029 1 Uncertain 10_696237_G->A 10 696237 696237 G A snp 1448.77 0/1 99 116 56 60 0.52 ncRNA_exonic rs10904535 PRR26 AU 0.646965 0.7133 0.8485 0.7140 0 D 0.0 P -1.046 T 0.0 T 0.001 T Uncertain 10_708192_A->G 10 708192 708192 A G snp 2061.77 1/1 99 57 0 57 1.0 ncRNA_intronic rs3853289 PRR26 AU 0.982228 1 Uncertain 10_708697_T->C 10 708697 708697 T C snp 915.77 0/1 99 73 38 35 0.48 ncRNA_intronic rs11253308 PRR26 AU 0.0451278 0.1419 0.0382 0.1371 Uncertain 10_861110_A->G 10 861110 861110 A G snp 52.74 1/1 6 2 0 2 1.0 intronic rs7910159 LARP4B AU NM_015155 exon3 c.2145+100A>G 0.99381 1 Uncertain 10_1034216_A->G 10 1034216 1034216 A G snp 141.03 1/1 12 5 0 5 1.0 upstream rs1250883 GTPBP4 AU 0.988818 1 Uncertain 10_1042023_-->AAC 10 1042023 1042023 - AAC indel 6334.73 1/1 99 108 0 108 1.0 intronic rs10665098 GTPBP4 AU NM_012341 exon4 c.7626-22insAAC 0.994609 1 0.990173 0.9979 1 Uncertain 10_1043058_T->C 10 1043058 1043058 T C snp 1308.77 1/1 96 39 0 39 1.0 intronic rs1250887 GTPBP4 AU NM_012341 exon5 c.8728-89T>C 0.991414 1 Uncertain 10_1052950_G->A 10 1052950 1052950 G A snp 1934.77 0/1 99 145 65 80 0.55 intronic rs2306408 GTPBP4 AU NM_012341 exon10 c.18538-7G>A 0.284145 0.2827 0.241043 0.2366 0.3074 Uncertain 10_1054007_G->T 10 1054007 1054007 G T snp 232.77 0/1 99 19 8 11 0.58 intronic rs11253565 GTPBP4 AU NM_012341 exon11 c.20478-890G>T 0.0746805 0.0972 0.1277 0.1832 Uncertain 10_1054251_G->A 10 1054251 1054251 G A snp 38.77 0/1 67 6 4 2 0.33 intronic rs11253566 GTPBP4 AU NM_012341 exon11 c.20478-646G>A 0.151158 0.0982 Uncertain 10_1054276_T->C 10 1054276 1054276 T C snp 279.78 1/1 24 9 0 9 1.0 intronic rs10904595 GTPBP4 AU NM_012341 exon11 c.20478-621T>C 0.997204 1 1 1 Uncertain 10_1054444_A->G 10 1054444 1054444 A G snp 1246.77 0/1 99 162 99 63 0.39 intronic rs11253567 GTPBP4 AU NM_012341 exon11 c.20478-453A>G 0.161941 0.1012 Uncertain 10_1055271_C->T 10 1055271 1055271 C T snp 396.77 0/1 99 28 12 16 0.57 intronic rs10904597 GTPBP4 AU NM_012341 exon12 c.21049-197C>T 0.0798722 0.0972 Uncertain 10_1056684_A->C 10 1056684 1056684 A C snp 170.9 1/1 15 6 0 6 1.0 intronic rs10752023 GTPBP4 AU NM_012341 exon13 c.22041+224A>C 0.940296 1 Uncertain 10_1060218_G->A 10 1060218 1060218 G A snp 1158.77 0/1 99 140 84 56 0.4 exonic rs3207775 GTPBP4 AU nonsynonymous SNV NM_012341 exon15 c.G1574A p.R525H 0.0794728 0.0972 0.086114 0.0832 0.1122 0.08 T 0.954 N -1.097 T 0.002 T 0.002 T Pathogenic 10_1061585_G->T 10 1061585 1061585 G T snp 334.78 1/1 27 9 0 9 1.0 intronic rs57521778 GTPBP4 AU NM_012341 exon16 c.27273-107G>T 0.989217 1 Uncertain 10_1061626_CTGAGCA->- 10 1061626 1061632 CTGAGCA - indel 1999.73 1/1 63 21 0 21 1.0 intronic rs11277189 GTPBP4 AU NM_012341 exon16 c.27273-66_27273-60delCTGAGCA 0.991014 1 Uncertain 10_1061646_T->C 10 1061646 1061646 T C snp 1266.77 1/1 93 37 0 37 1.0 intronic rs61830965 GTPBP4 AU NM_012341 exon16 c.27273-46T>C 0.449681 0.3869 Uncertain 10_1061649_A->G 10 1061649 1061649 A G snp 1163.77 1/1 64 37 1 36 0.97 intronic rs36172393 GTPBP4 AU NM_012341 exon16 c.27273-43A>G 0.467252 0.3869 Uncertain 10_1061650_C->G 10 1061650 1061650 C G snp 1269.77 1/1 96 38 0 38 1.0 intronic rs77370508 GTPBP4 AU NM_012341 exon16 c.27273-42C>G 0.467252 0.3869 Uncertain 10_1061767_G->A 10 1061767 1061767 G A snp 2359.77 0/1 99 235 130 105 0.45 exonic rs2306405 GTPBP4 AU synonymous SNV NM_012341 exon16 c.G1683A p.P561P 0.0802716 0.0972 0.086575 0.0832 0.1095 Uncertain 10_1061862_A->G 10 1061862 1061862 A G snp 2243.77 0/1 99 164 76 88 0.54 intronic rs2306406 GTPBP4 AU NM_012341 exon16 c.27417+26A>G 0.212061 0.2877 0.170537 0.2179 0.3119 Uncertain 10_1065912_G->A 10 1065912 1065912 G A snp 224.84 1/1 18 6 0 6 1.0 intronic rs7918994 IDI2 AU NM_033261 exon1 c.318+138G>A 0.997204 1 Uncertain 10_1066710_C->T 10 1066710 1066710 C T snp 470.77 0/1 99 39 20 19 0.49 exonic rs34407608 IDI2 AU synonymous SNV NM_033261 exon4 c.G363A p.E121E 0.0848642 0.0972 0.092342 0.0898 0.1094 Uncertain 10_1068802_G->A 10 1068802 1068802 G A snp 1459.77 1/1 99 46 0 46 1.0 ncRNA_intronic rs3750729 IDI2-AS1 AU 0.545727 0.4296 Uncertain 10_1068849_C->T 10 1068849 1068849 C T snp 568.77 1/1 42 17 0 17 1.0 ncRNA_intronic rs3829163 IDI2-AS1 AU 0.229433 0.2788 Uncertain 10_1070461_C->T 10 1070461 1070461 C T snp 93.28 1/1 9 3 0 3 1.0 ncRNA_intronic rs3793777 IDI2-AS1 AU 0.545327 0.4375 Uncertain 10_1070710_C->G 10 1070710 1070710 C G snp 5677.77 1/1 99 209 0 209 1.0 ncRNA_intronic rs12357207 IDI2-AS1 AU 0.232827 0.2768 0.234815 0.2786 0.3196 Uncertain 10_1081747_C->G 10 1081747 1081747 C G snp 1257.77 0/1 99 87 41 46 0.53 ncRNA_intronic rs10508205 IDI2-AS1 AU 0.0870607 0.1488 0.1363 0.2174 Uncertain 10_1081882_T->C 10 1081882 1081882 T C snp 2170.77 0/1 99 194 97 97 0.5 ncRNA_exonic rs7075695 IDI2-AS1 AU 0.197684 0.1825 0.2100 0.1848 Uncertain 10_1081944_-->T 10 1081944 1081944 - T indel 561.73 1/1 54 58 1 57 0.98 ncRNA_intronic rs11396609 IDI2-AS1 AU 0.186901 0.2282 0.3789 0.3873 Uncertain 10_1089616_T->C 10 1089616 1089616 T C snp 1451.77 0/1 99 88 36 52 0.59 ncRNA_exonic rs11250238 IDI2-AS1 AU 0.893371 0.879 0.8685 0.8320 Uncertain 10_1093992_A->G 10 1093992 1093992 A G snp 40.77 0/1 69 5 3 2 0.4 intronic rs4880759 IDI1 AU NM_004508 exon5 c.7677-811A>G 0.89397 0.879 Uncertain 10_1120431_G->A 10 1120431 1120431 G A snp 1385.77 0/1 99 135 70 65 0.48 intronic WDR37 AU NM_014023 exon2 c.138+2198G>A 0.32 T 1.000 N -0.898 T Uncertain 10_1126293_T->C 10 1126293 1126293 T C snp 1270.77 1/1 90 47 0 47 1.0 intronic rs7087381 WDR37 AU NM_014023 exon5 c.8256-58T>C 0.422324 0.4444 0.388962 Uncertain 10_1142208_T->C 10 1142208 1142208 T C snp 3295.77 1/1 99 115 0 115 1.0 intronic rs10794716 WDR37 AU NM_014023 exon9 c.24091+22T>C 0.98762 1 0.991235 0.9971 1 0.0 P Uncertain 10_1142424_A->G 10 1142424 1142424 A G snp 90.28 1/1 9 3 0 3 1.0 intronic rs10794717 WDR37 AU NM_014023 exon9 c.24091+238A>G 0.245208 0.2708 Uncertain 10_1149390_C->A 10 1149390 1149390 C A snp 334.77 0/1 99 37 24 13 0.35 intronic rs7915650 WDR37 AU NM_014023 exon10 c.31446-151C>A 0.120208 0.1796 Uncertain 10_1170304_C->G 10 1170304 1170304 C G snp 3994.77 1/1 99 154 0 154 1.0 intronic rs7916430 WDR37 AU NM_014023 exon12 c.52197+12C>G 0.132987 0.1905 0.107873 0.1560 0.2102 Uncertain 10_1230968_C->T 10 1230968 1230968 C T snp 286.77 0/1 99 43 28 15 0.35 exonic rs2271275 ADARB2 AU nonsynonymous SNV NM_018702 exon9 c.G1876A p.A626T 0.543131 0.6696 0.560529 0.6403 0.6783 0.22 T 1.000 P -0.926 T 0.623 T 0.376 P Pathogenic 10_1232500_G->A 10 1232500 1232500 G A snp 608.77 0/1 99 85 57 28 0.33 intronic rs7924253 ADARB2 AU NM_018702 exon2 c.1847+1521G>A 0.241613 0.2857 0.151901 0.1776 0.2723 Uncertain 10_1245893_A->C 10 1245893 1245893 A C snp 391.77 1/1 30 11 0 11 1.0 intronic rs1983028 ADARB2 AU NM_018702 exon3 c.16773-12A>C 0.542931 0.7014 0.542219 0.5276 0.6680 Uncertain 10_1263076_C->T 10 1263076 1263076 C T snp 888.77 0/1 99 67 28 39 0.58 intronic rs3750677 ADARB2 AU NM_018702 exon4 c.33927+17C>T 0.348043 0.4256 0.313923 0.4021 0.4606 Uncertain 10_1263243_C->T 10 1263243 1263243 C T snp 86.77 0/1 30 4 1 3 0.75 intronic rs11250341 ADARB2 AU NM_018702 exon4 c.33927+184C>T 0.275958 0.4335 Uncertain 10_1279598_G->A 10 1279598 1279598 G A snp 569.77 0/1 99 52 25 27 0.52 intronic rs67687625 ADARB2 AU NM_018702 exon5 c.50503-37G>A 0.29992 0.4256 0.267338 0.3494 0.4380 Uncertain 10_1405164_G->A 10 1405164 1405164 G A snp 265.77 0/1 99 15 6 9 0.6 intronic rs2387652 ADARB2 AU NM_018702 exon8 c.176090-58G>A 0.355232 0.749 Uncertain 10_1406029_C->T 10 1406029 1406029 C T snp 1507.77 0/1 99 135 62 73 0.54 exonic rs3750673 ADARB2 AU nonsynonymous SNV NM_018702 exon3 c.G271A p.G91S 0.0121805 0.0585 0.0148 0.0933 0.18 T 1.000 N -1.055 T 0.006 T 0.005 T Pathogenic 10_1421326_C->T 10 1421326 1421326 C T snp 1177.77 0/1 99 157 98 59 0.38 exonic rs3793733 ADARB2 AU nonsynonymous SNV NM_018702 exon2 c.G130A p.A44T 0.0503195 0.12 0.017377 0.0321 0.1123 0.36 T 1.000 P -1.028 T 0.152 T 0.017 T Pathogenic 10_1779139_A->G 10 1779139 1779139 A G snp 375.77 0/1 99 24 10 14 0.58 intronic rs117110448 ADARB2 AU NM_018702 exon10 c.550112-105A>G 0.0335463 0.13 Uncertain 10_3124319_G->A 10 3124319 3124319 G A snp 54.74 1/1 6 2 0 2 1.0 intronic rs11251702 PFKP AU NM_002627 exon2 c.14792-260G>A 0.17492 0.3006 Uncertain 10_3143283_T->A 10 3143283 3143283 T A snp 227.84 1/1 18 9 0 9 1.0 intronic rs55882340 PFKP AU NM_001242339 exon5 c.31619+91T>A 0.544129 0.7153 Uncertain 10_3143643_A->C 10 3143643 3143643 A C snp 2685.77 1/1 99 92 0 92 1.0 exonic rs4881080 PFKP AU synonymous SNV NM_002627 exon4 c.A351C p.R117R 0.998602 0.998 0.999615 0.9997 0.9998 Uncertain 10_3145885_T->C 10 3145885 3145885 T C snp 728.77 0/1 99 63 35 28 0.44 intronic rs10903966 PFKP AU NM_002627 exon5 c.36183-85T>C 0.691094 0.5526 Uncertain 10_3145906_A->C 10 3145906 3145906 A C snp 1032.77 0/1 99 93 52 41 0.44 intronic rs11251719 PFKP AU NM_002627 exon5 c.36183-64A>C 0.628794 0.5496 Uncertain 10_3146180_C->T 10 3146180 3146180 C T snp 1584.77 0/1 99 124 58 66 0.53 intronic rs2306294 PFKP AU NM_002627 exon5 c.36349+44C>T 0.540535 0.4494 0.532548 0.5040 0.4648 Uncertain 10_3147096_C->G 10 3147096 3147096 C G snp 860.77 1/1 63 26 0 26 1.0 intronic rs4424569 PFKP AU NM_002627 exon6 c.37519-210C>G 0.351238 0.4871 Uncertain 10_3147099_G->A 10 3147099 3147099 G A snp 903.77 1/1 66 28 0 28 1.0 intronic rs4469783 PFKP AU NM_002627 exon6 c.37519-207G>A 0.344249 0.4861 Uncertain 10_3147192_G->A 10 3147192 3147192 G A snp 5263.77 1/1 99 192 3 189 0.98 intronic rs4256893 PFKP AU NM_002627 exon6 c.37519-114G>A 0.346046 0.5397 Uncertain 10_3147456_C->T 10 3147456 3147456 C T snp 913.77 1/1 69 26 0 26 1.0 intronic rs4271292 PFKP AU NM_002627 exon6 c.37564+105C>T 0.330072 0.495 Uncertain 10_3149402_A->G 10 3149402 3149402 A G snp 4121.77 1/1 99 152 0 152 1.0 splicing rs10903967 PFKP AU NM_002627 exon8 c.39618-3A>G 0.595447 0.8145 0.561077 0.6174 0.7982 Pathogenic 10_3150973_C->T 10 3150973 3150973 C T snp 3865.77 1/1 99 150 0 150 1.0 exonic rs1132173 PFKP AU synonymous SNV NM_002627 exon9 c.C951T p.F317F 0.370407 0.5099 0.303245 0.3501 0.4790 Uncertain 10_3151325_A->C 10 3151325 3151325 A C snp 176.9 1/1 15 5 0 5 1.0 intronic rs2306297 PFKP AU NM_002627 exon10 c.41759-221A>C 0.544728 0.5952 Uncertain 10_3155173_C->T 10 3155173 3155173 C T snp 2244.77 1/1 99 71 0 71 1.0 intronic rs7896691 PFKP AU NM_002627 exon12 c.45523-137C>T 0.874002 0.9762 Uncertain 10_3155217_T->C 10 3155217 3155217 T C snp 3886.77 1/1 99 130 0 130 1.0 intronic rs6602023 PFKP AU NM_002627 exon12 c.45523-93T>C 0.883986 0.9762 Uncertain 10_3155237_A->G 10 3155237 3155237 A G snp 4865.77 1/1 99 168 0 168 1.0 intronic rs6602024 PFKP AU NM_002627 exon12 c.45523-73A>G 0.883986 0.9762 Uncertain 10_3155263_T->C 10 3155263 3155263 T C snp 5791.77 1/1 99 221 0 221 1.0 intronic rs7906901 PFKP AU NM_002627 exon12 c.45523-47T>C 0.876597 0.9762 0.793814 0.8875 0.9859 Uncertain 10_3155408_C->T 10 3155408 3155408 C T snp 4625.77 1/1 99 157 0 157 1.0 intronic rs3816700 PFKP AU NM_002627 exon12 c.45593+28C>T 0.582268 0.8125 0.535681 0.6256 0.8044 Uncertain 10_3155428_C->T 10 3155428 3155428 C T snp 4293.77 1/1 99 140 1 139 0.99 intronic rs3816701 PFKP AU NM_002627 exon12 c.45593+48C>T 0.568291 0.8115 0.520686 0.6110 0.8003 Uncertain 10_3155540_A->G 10 3155540 3155540 A G snp 6930.77 1/1 99 250 0 250 1.0 intronic rs4881085 PFKP AU NM_002627 exon13 c.45776-23A>G 0.869409 0.9762 0.825235 0.8881 0.9868 Uncertain 10_3155620_A->G 10 3155620 3155620 A G snp 6883.77 1/1 99 249 0 249 1.0 exonic rs1052309 PFKP AU synonymous SNV NM_002627 exon13 c.A1281G p.A427A 0.60623 0.8363 0.566738 0.6194 0.8210 Uncertain 10_3155753_G->C 10 3155753 3155753 G C snp 1636.77 1/1 99 44 0 44 1.0 intronic rs4881087 PFKP AU NM_002627 exon13 c.45923+43G>C 0.890575 0.9762 0.870903 0.9280 0.9873 Uncertain 10_3158848_C->T 10 3158848 3158848 C T snp 1506.77 1/1 99 51 0 51 1.0 intronic rs7086902 PFKP AU NM_002627 exon14 c.49180-119C>T 0.644968 0.8244 Uncertain 10_3160917_T->C 10 3160917 3160917 T C snp 1446.77 1/1 99 44 0 44 1.0 intronic rs3829913 PFKP AU NM_002627 exon15 c.51186-56T>C 0.802316 0.874 0.787560 Uncertain 10_3161131_C->T 10 3161131 3161131 C T snp 2847.77 1/1 99 109 0 109 1.0 intronic rs3829914 PFKP AU NM_002627 exon15 c.51274+70C>T 0.687899 0.8413 Uncertain 10_3161148_G->C 10 3161148 3161148 G C snp 2498.77 1/1 99 94 0 94 1.0 intronic rs3829915 PFKP AU NM_002627 exon15 c.51274+87G>C 0.442292 0.6597 Uncertain 10_3162033_T->C 10 3162033 3162033 T C snp 1377.77 1/1 99 43 0 43 1.0 intronic rs6602025 PFKP AU NM_002627 exon16 c.52296-50T>C 0.890375 0.8839 0.908965 0.9142 0.8842 Uncertain 10_3167463_T->C 10 3167463 3167463 T C snp 3000.77 1/1 99 110 2 108 0.98 intronic rs2306309 PFKP AU NM_002627 exon17 c.62223-4547T>C 0.295128 0.3165 0.241626 0.2762 0.3382 Uncertain 10_3167465_A->G 10 3167465 3167465 A G snp 2914.77 1/1 99 107 0 107 1.0 intronic rs3816703 PFKP AU NM_002627 exon17 c.62223-4545A>G 0.686302 0.7312 0.678123 0.6933 0.7305 Uncertain 10_3167528_TTC->- 10 3167528 3167530 TTC - indel 2401.73 1/1 99 48 0 48 1.0 intronic rs142773253 PFKP AU NM_002627 exon17 c.62223-4482_62223-4480delTTC 0.289736 0.3204 Uncertain 10_3171995_G->T 10 3171995 3171995 G T snp 2047.77 1/1 99 72 0 72 1.0 intronic rs2279211 PFKP AU NM_002627 exon17 c.62223-15G>T 0.41254 0.37 0.394247 0.3825 0.3712 Uncertain 10_3172121_C->T 10 3172121 3172121 C T snp 5724.77 1/1 99 215 0 215 1.0 exonic rs1052333 PFKP AU synonymous SNV NM_002627 exon17 c.C1794T p.A598A 0.41234 0.37 0.391973 0.3846 0.3684 1.000 P -0.993 T Likely benign 10_3172229_G->A 10 3172229 3172229 G A snp 4249.77 1/1 99 151 0 151 1.0 intronic rs4598574 PFKP AU NM_002627 exon17 c.62388+54G>A 0.288538 0.3175 Uncertain 10_3172267_A->G 10 3172267 3172267 A G snp 2860.77 1/1 99 103 0 103 1.0 intronic rs4381274 PFKP AU NM_002627 exon17 c.62388+92A>G 0.507987 0.5228 Uncertain 10_3172299_T->C 10 3172299 3172299 T C snp 1985.77 1/1 99 59 0 59 1.0 intronic rs4390256 PFKP AU NM_002627 exon17 c.62388+124T>C 0.421526 0.3859 Uncertain 10_3172357_T->C 10 3172357 3172357 T C snp 333.78 1/1 27 10 0 10 1.0 intronic rs4391741 PFKP AU NM_002627 exon17 c.62388+182T>C 0.413339 0.37 Uncertain 10_3175541_C->A 10 3175541 3175541 C A snp 1776.77 1/1 99 62 0 62 1.0 intronic rs3740613 PFKP AU NM_002627 exon19 c.65719+35C>A 0.436502 0.37 0.429110 0.4127 0.3684 Uncertain 10_3175601_TAAG->- 10 3175601 3175604 TAAG - indel 1839.73 1/1 84 31 0 31 1.0 intronic rs375054848 PFKP AU NM_002627 exon19 c.65719+95_65719+98delTAAG 0.141773 0.3016 Uncertain 10_3177730_G->A 10 3177730 3177730 G A snp 119.03 1/1 12 4 0 4 1.0 intronic rs2306315 PFKP AU NM_002627 exon21 c.68140-197G>A 0.421925 0.37 Uncertain 10_3178815_G->C 10 3178815 3178815 G C snp 1815.77 1/1 99 64 0 64 1.0 UTR3 rs9063 PFKP AU 0.1877 0.3026 0.120637 0.1616 0.2767 Uncertain 10_3178905_T->A 10 3178905 3178905 T A snp 528.77 1/1 39 18 0 18 1.0 UTR3 rs7673 PFKP AU 0.884185 0.8899 Uncertain 10_3178908_T->C 10 3178908 3178908 T C snp 530.77 1/1 39 18 0 18 1.0 UTR3 rs542 PFKP AU 0.304513 0.3185 Uncertain 10_3178986_T->C 10 3178986 3178986 T C snp 141.03 1/1 12 4 0 4 1.0 UTR3 rs3816712 PFKP AU 0.460463 0.3839 Uncertain 10_3178987_G->A 10 3178987 3178987 G A snp 141.03 1/1 12 4 0 4 1.0 UTR3 rs2388564 PFKP AU 0.432508 0.37 Uncertain 10_3179703_C->T 10 3179703 3179703 C T snp 2619.77 1/1 99 92 0 92 1.0 downstream rs4881107 PFKP AU 0.432308 0.372 0.422393 0.3841 0.3492 Uncertain 10_3179708_A->G 10 3179708 3179708 A G snp 2705.77 1/1 99 96 0 96 1.0 downstream rs4881108 PFKP AU 0.432508 0.371 0.425358 0.3951 0.3596 Uncertain 10_3180227_T->C 10 3180227 3180227 T C snp 1382.77 1/1 99 45 0 45 1.0 exonic rs6901 PITRM1 AU nonsynonymous SNV NM_001242309 exon24 c.A2816G p.Q939R 0.704273 0.7361 0.714412 0.7201 0.7596 1 T 0.0 P -0.977 T 0.0 T 0.0 T Pathogenic 10_3180316_T->C 10 3180316 3180316 T C snp 2027.77 1/1 99 72 0 72 1.0 exonic rs11414 PITRM1 AU synonymous SNV NM_001242309 exon24 c.A2727G p.R909R 0.609824 0.5327 0.621573 0.6040 0.5303 Uncertain 10_3180343_A->G 10 3180343 3180343 A G snp 2528.77 1/1 99 83 0 83 1.0 intronic rs2388559 PITRM1 AU NM_001242307 exon1 c.94+27A>G 0.480831 0.3859 0.467407 0.4426 0.3898 Uncertain 10_3181003_A->G 10 3181003 3181003 A G snp 3583.77 1/1 99 123 0 123 1.0 intronic rs2279217 PITRM1 AU NM_001242307 exon3 c.873-92A>G 0.695288 0.7331 0.6958 0.7427 0.0 P Uncertain 10_3181282_G->A 10 3181282 3181282 G A snp 2907.77 1/1 99 109 0 109 1.0 intronic rs2279220 PITRM1 AU NM_001242307 exon3 c.1019+41G>A 0.694688 0.7361 0.707042 0.6945 0.7426 Uncertain 10_3181442_T->C 10 3181442 3181442 T C snp 41.74 1/1 6 2 0 2 1.0 intronic rs2279221 PITRM1 AU NM_001242307 exon3 c.1019+201T>C 0.696685 0.7371 Uncertain 10_3182686_C->A 10 3182686 3182686 C A snp 56.74 1/1 6 2 0 2 1.0 intronic rs9423702 PITRM1 AU NM_001242307 exon4 c.2656-192C>A 0.298722 0.3204 Uncertain 10_3183747_A->G 10 3183747 3183747 A G snp 3894.77 1/1 99 138 0 138 1.0 intronic rs7094698 PITRM1 AU NM_001242307 exon4 c.2782+743A>G 0.697484 0.7381 Uncertain 10_3185393_A->G 10 3185393 3185393 A G snp 1390.77 1/1 99 37 0 37 1.0 ncRNA_intronic rs4881110 PITRM1-AS1 AU 0.347843 0.3323 Uncertain 10_3185798_T->C 10 3185798 3185798 T C snp 5273.77 1/1 99 162 0 162 1.0 ncRNA_intronic rs3736093 PITRM1-AS1 AU 0.695288 0.7351 Uncertain 10_3186458_C->G 10 3186458 3186458 C G snp 3141.77 1/1 99 122 0 122 1.0 ncRNA_intronic rs3752803 PITRM1-AS1 AU 0.581869 0.6696 0.547084 0.5395 0.6608 Uncertain 10_3186723_G->C 10 3186723 3186723 G C snp 185.9 1/1 15 6 0 6 1.0 ncRNA_intronic rs9423496 PITRM1-AS1 AU 0.638978 0.6012 Uncertain 10_3187749_A->G 10 3187749 3187749 A G snp 185.9 1/1 15 7 0 7 1.0 ncRNA_exonic rs3758632 PITRM1-AS1 AU 0.696885 0.7411 0.743194 0.6878 0.7033 Uncertain 10_3187924_T->C 10 3187924 3187924 T C snp 307.78 1/1 24 12 0 12 1.0 ncRNA_exonic rs3758631 PITRM1-AS1 AU 0.67512 0.7391 0.703197 0.6828 0.7292 Uncertain 10_3189380_C->T 10 3189380 3189380 C T snp 3273.77 1/1 99 115 0 115 1.0 exonic rs3740607 PITRM1 AU synonymous SNV NM_001242309 exon17 c.G2004A p.P668P 0.545327 0.6865 0.484336 0.5231 0.6891 1.000 P -0.951 T Likely benign 10_3190265_A->G 10 3190265 3190265 A G snp 5641.77 1/1 99 206 0 206 1.0 ncRNA_exonic rs4881111 PITRM1-AS1 AU 0.479433 0.5516 0.467624 0.5035 0.5377 Uncertain 10_3190298_C->T 10 3190298 3190298 C T snp 5158.77 1/1 99 198 1 197 0.99 ncRNA_exonic rs4881112 PITRM1-AS1 AU 0.471845 0.5357 0.457921 0.4956 0.5277 Uncertain 10_3193558_AAAAAAGAAACAA->- 10 3193558 3193570 AAAAAAGAAACAA - indel 8458.73 1/1 99 62 0 62 1.0 splicing rs60985673 PITRM1 AU NM_001242307 exon13 c.13333+3_13333+15delAAAAAAGAAACAA 0.185903 0.3006 0.120390 0.2088 0.3427 ID=COSM1603402,COSM1603403;OCCURENCE=1(liver) Pathogenic 10_3197856_C->G 10 3197856 3197856 C G snp 4294.77 1/1 99 153 2 151 0.99 exonic rs3765101 PITRM1 AU nonsynonymous SNV NM_001242309 exon13 c.G1452C p.Q484H 0.142173 0.3145 0.051883 0.1006 0.2980 0.12 T 0.0 P -0.980 T 0.017 T 0.057 T Pathogenic 10_3199555_A->T 10 3199555 3199555 A T snp 870.77 1/1 63 31 0 31 1.0 intronic rs7086470 PITRM1 AU NM_001242307 exon16 c.19404-71A>T 0.619209 0.5883 Uncertain 10_3200155_G->C 10 3200155 3200155 G C snp 1045.77 1/1 75 33 0 33 1.0 intronic rs9423705 PITRM1 AU NM_001242307 exon17 c.20009-76G>C 0.388778 0.4266 Uncertain 10_3200292_G->A 10 3200292 3200292 G A snp 2419.77 1/1 99 96 0 96 1.0 exonic rs3182535 PITRM1 AU nonsynonymous SNV NM_001242309 exon10 c.C1094T p.A365V 0.625998 0.6022 0.681968 0.6584 0.5921 0.29 T 0.000 P -1.132 T 0.228 T 0.16 T Pathogenic 10_3201010_C->T 10 3201010 3201010 C T snp 1151.77 1/1 84 34 0 34 1.0 intronic rs3814592 PITRM1 AU NM_001242307 exon18 c.20883-95C>T 0.620607 0.5883 Uncertain 10_3201072_G->T 10 3201072 3201072 G T snp 1986.77 1/1 99 70 0 70 1.0 intronic rs3814593 PITRM1 AU NM_001242307 exon18 c.20883-33G>T 0.309305 0.3175 0.266102 0.2865 0.3073 Uncertain 10_3201097_T->C 10 3201097 3201097 T C snp 2629.77 1/1 99 102 0 102 1.0 intronic rs3814594 PITRM1 AU NM_001242307 exon18 c.20883-8T>C 0.60603 0.6022 0.655674 0.6520 0.5934 Uncertain 10_3202065_T->C 10 3202065 3202065 T C snp 4323.77 1/1 99 156 0 156 1.0 exonic rs4242746 PITRM1 AU nonsynonymous SNV NM_001242309 exon8 c.A886G p.I296V 0.620807 0.6032 0.687322 0.6684 0.6206 1 T 0.0 P -0.980 T 0.0 T 0.002 T Pathogenic 10_3202140_C->T 10 3202140 3202140 C T snp 5438.77 1/1 99 198 0 198 1.0 intronic rs4242747 PITRM1 AU NM_001242307 exon19 c.21906+12C>T 0.575679 0.5873 0.633106 0.6347 0.6020 Uncertain 10_3205851_C->G 10 3205851 3205851 C G snp 1426.77 1/1 99 48 0 48 1.0 intronic rs6602034 PITRM1 AU NM_001242307 exon21 c.25694-65C>G 0.695687 0.7411 Uncertain 10_3206027_A->G 10 3206027 3206027 A G snp 1259.77 1/1 90 41 0 41 1.0 exonic rs4609511 PITRM1 AU synonymous SNV NM_001242309 exon6 c.T585C p.P195P 0.624201 0.6032 0.684015 0.6634 0.5946 Uncertain 10_3208557_A->G 10 3208557 3208557 A G snp 1096.77 1/1 78 41 0 41 1.0 exonic rs12359035 PITRM1 AU synonymous SNV NM_001242309 exon3 c.T186C p.T62T 0.639577 0.6042 0.700595 0.6713 0.5919 Uncertain 10_3208567_-->GCACGCTAGGGAAGAGAGAGGAATG 10 3208567 3208567 - GCACGCTAGGGAAGAGAGAGGAATG indel 6955.73 1/1 99 38 0 38 1.0 exonic rs148472807 PITRM1 AU stopgain NM_001242309 exon3 c.175_176insCATTCCTCTCTCTTCCCTAGCGTGC p.Q59_F60delinsPFLSLPX 0.618411 0.5962 0.0278 0.0004 Pathogenic 10_3208583_A->C 10 3208583 3208583 A C snp 316.78 1/1 24 11 0 11 1.0 intronic rs4242748 PITRM1 AU NM_001242307 exon24 c.28350+11A>C 0.0004 0.0001 Uncertain 10_3212425_T->G 10 3212425 3212425 T G snp 3058.77 1/1 99 116 0 116 1.0 intronic rs17133560 PITRM1 AU NM_001242307 exon26 c.32176+27T>G 0.13738 0.2986 0.050551 0.1020 0.2852 Uncertain 10_3214369_A->G 10 3214369 3214369 A G snp 2064.77 1/1 99 64 0 64 1.0 intronic rs4880599 PITRM1 AU NM_001242307 exon27 c.34686-539A>G 0.689896 0.7312 0.6860 0.71 Uncertain 10_3214516_A->G 10 3214516 3214516 A G snp 2880.77 1/1 99 94 0 94 1.0 intronic rs4881118 PITRM1 AU NM_001242307 exon27 c.34686-392A>G 0.688099 0.7351 Uncertain 10_3214996_C->- 10 3214996 3214996 C - indel 9405.73 1/1 99 249 0 249 1.0 UTR5 rs34460808 PITRM1 AU 0.679513 0.7361 0.6988 0.7214 Uncertain 10_3215011_A->T 10 3215011 3215011 A T snp 6317.77 1/1 99 250 0 250 1.0 UTR5 rs76038233 PITRM1 AU 0.0189696 0.0903 0.0071 0.1280 Uncertain 10_4867313_A->T 10 4867313 4867313 A T snp 769.77 1/1 57 24 0 24 1.0 intergenic rs2961562 LINC00704 AU 0.854034 0.9792 Uncertain 10_4868445_G->T 10 4868445 4868445 G T snp 3373.77 1/1 99 132 2 130 0.98 UTR5 rs2924275 AKR1E2 AU 0.771166 0.877 Uncertain 10_4877814_-->TTTTG 10 4877814 4877814 - TTTTG indel 3048.73 1/1 99 52 1 51 0.98 intronic rs150127444 AKR1E2 AU NM_001271025 exon4 c.9350-52insTTTTG 0.457268 0.6895 Uncertain 10_4879465_T->C 10 4879465 4879465 T C snp 90.28 1/1 9 3 0 3 1.0 intronic rs2961584 AKR1E2 AU NM_001040177 exon5 c.11134-185T>C 0.8752 0.9812 Uncertain 10_4884784_T->C 10 4884784 4884784 T C snp 3449.77 1/1 99 117 0 117 1.0 intronic rs2924269 AKR1E2 AU NM_001271025 exon5 c.16180+88T>C 0.876198 0.9812 Uncertain 10_4889525_T->C 10 4889525 4889525 T C snp 2791.77 1/1 99 90 0 90 1.0 intronic rs2961597 AKR1E2 AU NM_001271025 exon6 c.20906+103T>C 0.804912 0.9087 Uncertain 10_5005747_A->G 10 5005747 5005747 A G snp 1159.77 0/1 99 168 103 65 0.39 intronic rs2904798 AKR1C1 AU NM_001353 exon1 c.84+27A>G 0.1875 0.4911 0.044045 0.1296 0.5195 Uncertain 10_5005855_A->G 10 5005855 5005855 A G snp 68.77 0/1 97 44 33 11 0.25 intronic rs116910432 AKR1C1 AU NM_001353 exon1 c.84+135A>G 0.298123 0.0675 Uncertain 10_5009364_T->C 10 5009364 5009364 T C snp 1033.77 0/1 99 74 30 44 0.59 intronic rs2904802 AKR1C1 AU NM_001353 exon3 c.3599+129T>C 0.704872 0.7946 Uncertain 10_5010572_A->G 10 5010572 5010572 A G snp 1318.77 1/1 99 244 96 148 0.61 exonic rs1138600 AKR1C1 AU synonymous SNV NM_001353 exon4 c.A441G p.T147T 0.997204 1 0.9977 0.9995 0.998 P -1.060 T Likely benign 10_5014545_-->A 10 5014545 5014545 - A indel 1316.73 0/1 99 159 87 72 0.45 intronic AKR1C1 AU NM_001353 exon6 c.8866+43insA 0.569489 0.504 0.5681 0.5057 Uncertain 10_5019959_G->A 10 5019959 5019959 G A snp 617.77 0/1 99 80 47 33 0.41 UTR3 AKR1C1 AU 0.522364 0.5526 0.449622 0.4507 0.5632 Uncertain 10_5032239_-->G 10 5032239 5032239 - G indel 2260.73 1/1 99 57 1 56 0.98 intronic AKR1C2 AR,AU NM_205845 exon1 c.43+9insG 0.313698 0.5923 0.160649 0.2672 0.5857 Uncertain 10_5032286_C->G 10 5032286 5032286 C G snp 1570.77 1/1 99 60 0 60 1.0 intronic rs4307630 AKR1C2 AR,AU NM_205845 exon1 c.43+56C>G 0.395168 0.62 Uncertain 10_5037913_A->G 10 5037913 5037913 A G snp 905.77 1/1 87 66 0 66 1.0 intronic AKR1C2 AR,AU NM_205845 exon4 c.5760-34A>G 0.0615 0.2081 Uncertain 10_5038149_G->C 10 5038149 5038149 G C snp 926.77 1/1 72 31 0 31 1.0 intronic AKR1C2 AR,AU NM_205845 exon4 c.5870+92G>C 0.382388 0.62 Uncertain 10_5040637_C->T 10 5040637 5040637 C T snp 261.8 1/1 21 8 0 8 1.0 intronic AKR1C2 AR,AU NM_205845 exon5 c.8629-179C>T 0.393371 0.6141 Uncertain 10_5040672_A->C 10 5040672 5040672 A C snp 1033.77 1/1 78 27 0 27 1.0 intronic AKR1C2 AR,AU NM_205845 exon5 c.8629-144A>C 0.394768 0.619 Uncertain 10_5090790_A->T 10 5090790 5090790 A T snp 146.77 0/1 94 8 3 5 0.63 intergenic AKR1C2 AR,AU 0.352835 0.4077 Uncertain 10_5120157_G->T 10 5120157 5120157 G T snp 1329.77 1/1 93 53 0 53 1.0 intergenic rs4881396 AKR1C2 AR,AU 0.872005 0.878 0.8527 0.8382 Uncertain 10_5120227_C->T 10 5120227 5120227 C T snp 317.77 0/1 99 42 25 17 0.4 intergenic rs11252921 AKR1C2 AR,AU 0.31849 0.3016 Uncertain 10_5120332_T->G 10 5120332 5120332 T G snp 152.77 0/1 99 10 5 5 0.5 intergenic rs7894134 AKR1C2 AR,AU 0.553514 0.5764 Uncertain 10_5136651_C->G 10 5136651 5136651 C G snp 2417.77 1/1 99 89 0 89 1.0 exonic rs12529 AKR1C3 AU nonsynonymous SNV NM_003739 exon1 c.C15G p.H5Q 0.579673 0.8611 0.430022 0.4978 0.8662 0.35 T 0.000 P -0.993 T 0.001 T 0.003 T ID=CM045656;DIS=Lung cancer, increased risk, association with;TAG=DP;PUB=15284179 DP Pathogenic 10_5139003_T->C 10 5139003 5139003 T C snp 210.84 1/1 18 6 0 6 1.0 intronic rs2801883 AKR1C3 AU NM_003739 exon2 c.2133+234T>C 0.582268 0.8621 Uncertain 10_5139685_G->A 10 5139685 5139685 G A snp 5237.77 1/1 99 204 0 204 1.0 exonic rs12387 AKR1C3 AU synonymous SNV NM_003739 exon3 c.G312A p.K104K 0.848243 0.8621 0.843072 0.8362 0.8697 Uncertain 10_5139815_C->A 10 5139815 5139815 C A snp 1168.77 0/1 99 97 51 46 0.47 intronic rs2245191 AKR1C3 AU NM_003739 exon3 c.3106+73C>A 0.232827 0.1944 0.2294 0.2080 Uncertain 10_5141137_A->G 10 5141137 5141137 A G snp 839.77 0/1 99 68 36 32 0.47 intronic rs10508293 AKR1C3 AU NM_003739 exon4 c.4435+66A>G 0.341454 0.6667 Uncertain 10_5144523_A->G 10 5144523 5144523 A G snp 210.77 0/1 99 22 14 8 0.36 intronic rs3750566 AKR1C3 AU NM_003739 exon6 c.7766+121A>G 0.312899 0.6448 Uncertain 10_5147579_A->G 10 5147579 5147579 A G snp 99.28 1/1 9 3 0 3 1.0 intronic rs17155732 AKR1C3 AU NM_003739 exon8 c.11150-207A>G 0.248003 0.2163 Uncertain 10_5147909_G->A 10 5147909 5147909 G A snp 524.77 0/1 99 39 15 24 0.62 intronic rs2275928 AKR1C3 AU NM_003739 exon8 c.11233+40G>A 0.461062 0.2163 0.608796 0.5415 0.2521 Uncertain 10_5149427_T->C 10 5149427 5149427 T C snp 101.77 0/1 99 10 6 4 0.4 intronic rs10160019 AKR1C3 AU NM_003739 exon9 c.13016-225T>C 0.251398 0.2163 Uncertain 10_5149703_G->A 10 5149703 5149703 G A snp 380.77 0/1 99 46 27 19 0.41 UTR3 rs3209896 AKR1C3 AU 0.457867 0.2163 0.609180 0.5224 0.2346 Uncertain 10_5196273_A->G 10 5196273 5196273 A G snp 398.77 1/1 30 15 0 15 1.0 downstream rs1781930 AKR1C8P AU 0.884185 0.8611 Uncertain 10_5197881_A->G 10 5197881 5197881 A G snp 565.77 0/1 99 32 13 19 0.59 ncRNA_exonic rs1781931 AKR1C8P AU 0.202276 0.2222 0.2884 0.3526 Uncertain 10_5199934_G->C 10 5199934 5199934 G C snp 5080.77 1/1 99 191 1 190 0.99 ncRNA_exonic rs1781935 AKR1C8P AU 0.602037 0.8601 0.5550 0.8321 0 D 0.0 P -1.080 T Uncertain 10_5200059_T->C 10 5200059 5200059 T C snp 1919.77 1/1 99 59 0 59 1.0 ncRNA_intronic rs1761601 AKR1C8P AU 0.571685 0.8601 Uncertain 10_5200638_G->A 10 5200638 5200638 G A snp 940.77 1/1 69 27 0 27 1.0 ncRNA_intronic rs1781937 AKR1C8P AU 0.601238 0.8601 Uncertain 10_5200739_-->AGG 10 5200739 5200739 - AGG indel 6392.73 1/1 99 107 0 107 1.0 ncRNA_intronic rs5782810 AKR1C8P AU 0.84385 0.8611 Uncertain 10_5202221_G->A 10 5202221 5202221 G A snp 1211.77 0/1 99 94 43 51 0.54 ncRNA_intronic rs1413619 AKR1C8P AU 0.196286 0.2163 Uncertain 10_5202241_C->T 10 5202241 5202241 C T snp 2191.77 1/1 99 84 0 84 1.0 ncRNA_intronic rs1761599 AKR1C8P AU 0.778754 0.8601 Uncertain 10_5239022_C->T 10 5239022 5239022 C T snp 1383.77 0/1 99 120 60 60 0.5 intronic AKR1C4 AR NM_001818 exon1 c.84+108C>T Uncertain 10_5242346_G->A 10 5242346 5242346 G A snp 7536.77 1/1 99 250 0 250 1.0 intronic AKR1C4 AR NM_001818 exon2 c.3481+35G>A 0.97524 1 0.978010 0.9938 1 Uncertain 10_5244295_G->A 10 5244295 5244295 G A snp 229.77 0/1 99 24 12 12 0.5 intronic AKR1C4 AR NM_001818 exon2 c.3481+1984G>A 0.204473 0.248 Uncertain 10_5244441_A->G 10 5244441 5244441 A G snp 511.77 0/1 99 60 33 27 0.45 intronic AKR1C4 AR NM_001818 exon3 c.7509-1898A>G 0.561102 0.621 0.6153 0.5833 Uncertain 10_5246584_C->A 10 5246584 5246584 C A snp 3217.75 0/1 99 250 121 129 0.52 intronic AKR1C4 AR NM_001818 exon3 c.7626+128C>A 0.291733 0.2599 0.388908 0.4089 0.2742 Uncertain 10_5246670_A->C 10 5246670 5246670 A C snp 4848.77 1/1 99 171 1 170 0.99 intronic AKR1C4 AR NM_001818 exon3 c.7626+214A>C 0.791134 0.9871 Uncertain 10_5248587_T->G 10 5248587 5248587 T G snp 130.03 1/1 12 4 0 4 1.0 intronic AKR1C4 AR NM_001818 exon5 c.9530+227T>G 0.791334 0.9871 Uncertain 10_5255025_A->G 10 5255025 5255025 A G snp 2414.77 1/1 99 87 1 86 0.99 exonic AKR1C4 AR nonsynonymous SNV NM_001818 exon7 c.A749G p.Q250R 0.9998 1 0.9999 1 0.72 T 0.0 P -1.024 T 0.0 T 0.001 T Pathogenic 10_5258955_C->G 10 5258955 5258955 C G snp 176.9 1/1 15 5 0 5 1.0 intronic AKR1C4 AR NM_001818 exon8 c.19926+199C>G 0.997604 1 Uncertain 10_5260612_TCAC->- 10 5260612 5260615 TCAC - indel 2704.73 0/1 99 91 49 42 0.46 intronic AKR1C4 AR NM_001818 exon9 c.21850-68_21850-65delTCAC 0.135583 0.2599 0.100895 Uncertain 10_5260812_A->G 10 5260812 5260812 A G snp 683.77 1/1 51 19 0 19 1.0 UTR3 AKR1C4 AR 0.969848 1 Uncertain 10_5415954_A->G 10 5415954 5415954 A G snp 1894.77 0/1 99 197 113 84 0.43 exonic UCN3 AU nonsynonymous SNV NM_053049 exon2 c.A271G p.R91G 0.445887 0.5546 0.310183 0.3756 0.5320 1 T 0.0 P -0.910 T 0.0 T 0.0 T Pathogenic 10_5416202_G->A 10 5416202 5416202 G A snp 57.77 0/1 86 11 8 3 0.27 downstream UCN3 AU 0.136382 0.1855 0.105800 0.5315 0.5215 Uncertain 10_5435918_G->A 10 5435918 5435918 G A snp 4385.77 1/1 99 156 1 155 0.99 exonic TUBAL3 AU synonymous SNV NM_001171864 exon4 c.C783T p.A261A 0.668131 0.6478 0.671229 0.6546 0.6377 Uncertain 10_5436260_A->G 10 5436260 5436260 A G snp 2629.77 1/1 99 90 0 90 1.0 exonic TUBAL3 AU synonymous SNV NM_001171864 exon4 c.T441C p.A147A 0.779153 0.8294 0.720514 0.7381 0.8305 Uncertain 10_5436487_A->G 10 5436487 5436487 A G snp 2210.77 1/1 99 80 0 80 1.0 intronic TUBAL3 AU NM_024803 exon1 c.945+63A>G 0.792332 0.8294 Uncertain 10_5437365_A->G 10 5437365 5437365 A G snp 4728.77 1/1 99 177 0 177 1.0 exonic TUBAL3 AU synonymous SNV NM_001171864 exon3 c.T201C p.A67A 0.789736 0.8294 0.729586 0.7417 0.8310 Uncertain 10_5437426_G->A 10 5437426 5437426 G A snp 1479.77 0/1 99 142 75 67 0.47 exonic TUBAL3 AU nonsynonymous SNV NM_001171864 exon3 c.C140T p.T47M 0.000998403 0.005 0.000154 0.0002 0.0024 0.01 T 1 N -0.728 T 0.663 T 0.319 P Pathogenic 10_5446632_G->A 10 5446632 5446632 G A snp 1122.77 1/1 81 37 0 37 1.0 intronic TUBAL3 AU NM_024803 exon4 c.11273-120G>A 0.635783 0.6478 Uncertain 10_5446794_C->T 10 5446794 5446794 C T snp 2010.77 1/1 99 74 0 74 1.0 upstream TUBAL3 AU 0.760184 0.8284 0.703445 0.7312 0.8286 Uncertain 10_5446942_C->T 10 5446942 5446942 C T snp 222.84 1/1 18 7 0 7 1.0 upstream TUBAL3 AU 0.760184 0.8284 Uncertain 10_5446965_G->A 10 5446965 5446965 G A snp 101.28 1/1 9 4 0 4 1.0 upstream TUBAL3 AU 0.687899 0.754 Uncertain 10_5454458_A->G 10 5454458 5454458 A G snp 96.28 1/1 9 3 0 3 1.0 upstream rs10795275 NET1 AU 0.707468 0.7222 Uncertain 10_5471200_C->T 10 5471200 5471200 C T snp 1199.77 1/1 84 47 0 47 1.0 intronic rs4604777 NET1 AU NM_001047160 exon3 c.16537+8C>T 0.95028 0.8909 0.974147 0.9805 0.8942 Uncertain 10_5494616_A->G 10 5494616 5494616 A G snp 218.84 1/1 18 6 0 6 1.0 intronic rs7076839 NET1 AU NM_001047160 exon5 c.39833+128A>G 0.976837 1 Uncertain 10_5495218_T->C 10 5495218 5495218 T C snp 2775.77 1/1 99 100 0 100 1.0 exonic rs4567355 NET1 AU synonymous SNV NM_005863 exon5 c.T438C p.Y146Y 0.976637 1 0.972167 0.9929 1 Uncertain 10_5498248_G->T 10 5498248 5498248 G T snp 901.77 1/1 69 24 0 24 1.0 intronic rs4242790 NET1 AU NM_001047160 exon11 c.43581+12G>T 0.6252 0.6508 0.615272 0.6722 0.6771 Uncertain 10_5557990_G->C 10 5557990 5557990 G C snp 1335.77 0/1 99 148 89 59 0.4 ncRNA_exonic rs73604768 CALML3-AS1 AU 0.0734824 0.0952 Uncertain 10_5558145_-->C 10 5558145 5558145 - C indel 2574.73 0/1 99 165 88 77 0.47 ncRNA_exonic rs397783543 CALML3-AS1 AU 0.641374 0.6696 Uncertain 10_5558349_G->A 10 5558349 5558349 G A snp 1047.77 1/1 78 31 0 31 1.0 ncRNA_exonic rs4072067 CALML3-AS1 AU 0.873403 0.9702 Uncertain 10_5567366_G->A 10 5567366 5567366 G A snp 3439.77 0/1 99 250 116 134 0.54 exonic rs1142825 CALML3 AU synonymous SNV NM_005185 exon1 c.G318A p.L106L 0.418331 0.6091 0.321467 0.3255 0.6143 Uncertain 10_5682641_C->T 10 5682641 5682641 C T snp 2177.77 1/1 99 78 0 78 1.0 UTR3 rs7896492 ASB13 AU 0.976637 1 0.977241 0.9939 1 Uncertain 10_5682855_T->C 10 5682855 5682855 T C snp 1043.77 0/1 99 85 44 41 0.48 intronic rs4427479 ASB13 AU NM_024701 exon1 c.128+62T>C 0.776757 0.8254 Uncertain 10_5682856_G->C 10 5682856 5682856 G C snp 1022.77 0/1 99 83 43 40 0.48 intronic rs7893640 ASB13 AU NM_024701 exon1 c.128+63G>C 0.61242 0.6339 Uncertain 10_5684342_C->G 10 5684342 5684342 C G snp 339.78 1/1 27 11 0 11 1.0 intronic rs6602421 ASB13 AU NM_024701 exon2 c.1259+418C>G 0.970647 1 Uncertain 10_5684534_-->A 10 5684534 5684534 - A indel 254.74 1/1 30 11 0 11 1.0 intronic rs397695670 ASB13 AU NM_024701 exon2 c.1259+610insA 0.667532 0.7837 0.5823 0.75 Uncertain 10_5691135_C->T 10 5691135 5691135 C T snp 710.77 0/1 99 67 40 27 0.4 intronic rs2386647 ASB13 AU NM_024701 exon3 c.8402+68C>T 0.334265 0.5109 Uncertain 10_5693379_A->G 10 5693379 5693379 A G snp 5141.77 1/1 99 199 0 199 1.0 intronic rs6602483 ASB13 AU NM_024701 exon4 c.10661+53A>G 0.986621 1 Uncertain 10_5695028_G->T 10 5695028 5695028 G T snp 651.77 0/1 99 49 19 30 0.61 intronic rs79548623 ASB13 AU NM_024701 exon5 c.12348+15G>T 0.00299521 0.0069 0.0020 0.0040 Uncertain 10_5708420_T->C 10 5708420 5708420 T C snp 111.77 0/1 99 23 16 7 0.3 intronic rs6602613 ASB13 AU NM_024701 exon6 c.25806-51T>C 0.690296 0.4812 Uncertain 10_5762405_C->G 10 5762405 5762405 C G snp 296.78 1/1 24 8 0 8 1.0 intronic rs10752093 FAM208B AU 0.997604 1 Uncertain 10_5772432_C->T 10 5772432 5772432 C T snp 1824.77 1/1 99 55 0 55 1.0 intronic rs45549643 FAM208B AU NM_017782 exon11 c.9844-17C>T 0.0822684 0.129 0.096466 0.1131 0.1311 Uncertain 10_5790420_T->C 10 5790420 5790420 T C snp 7245.77 1/1 99 250 0 250 1.0 exonic rs2669142 FAM208B AU nonsynonymous SNV NM_017782 exon15 c.T5036C p.V1679A 0.977436 1 0.978813 0.9876 1 0.37 T 0.0 P -1.060 T 0.0 T 0.0 T Pathogenic 10_5804865_C->T 10 5804865 5804865 C T snp 836.77 1/1 60 28 0 28 1.0 intronic rs56352451 FAM208B AU NM_017782 exon21 c.42386-126C>T 0.14397 0.1796 Uncertain 10_5805088_AC->- 10 5805088 5805089 AC - indel 1011.73 1/1 60 21 0 21 1.0 UTR3 rs139115917 FAM208B AU 0.144169 0.1796 0.137679 Uncertain 10_5810159_T->C 10 5810159 5810159 T C snp 424.77 0/1 99 28 14 14 0.5 intronic rs561527136 GDI2 AU NM_001494 exon4 c.2207-16T>C 0.000599042 0.003 0.0002 0.0022 Uncertain 10_5810160_G->T 10 5810160 5810160 G T snp 446.77 0/1 99 28 14 14 0.5 intronic rs528926287 GDI2 AU NM_001494 exon4 c.2207-15G>T 0.000599042 0.003 0.0002 0.0022 Uncertain 10_5810458_C->A 10 5810458 5810458 C A snp 1063.77 1/1 78 33 0 33 1.0 intronic rs61836362 GDI2 AU NM_001494 exon4 c.2379+111C>A 0.134585 0.1607 Uncertain 10_5842356_T->C 10 5842356 5842356 T C snp 199.84 1/1 18 6 0 6 1.0 intronic rs2175629 GDI2 AU NM_001494 exon10 c.34592-204T>C 0.945487 1 Uncertain 10_5853767_T->C 10 5853767 5853767 T C snp 1136.77 1/1 84 42 0 42 1.0 intronic rs1567706 GDI2 AU NM_001494 exon11 c.47208-1409T>C 0.333067 0.3562 Uncertain 10_5853817_G->C 10 5853817 5853817 G C snp 1274.77 1/1 93 56 0 56 1.0 intronic rs1567707 GDI2 AU NM_001494 exon11 c.47208-1359G>C 0.332867 0.3562 0.3669 0.3376 Uncertain 10_5853924_A->- 10 5853924 5853924 A - indel 241.73 1/1 43 26 0 26 1.0 intronic rs200241905 GDI2 AU NM_001494 exon11 c.47208-1252delA 0.3773 0.2075 Uncertain 10_5855225_G->A 10 5855225 5855225 G A snp 3019.77 1/1 99 119 0 119 1.0 UTR5 rs3736460 GDI2 AU 0.0864617 0.1528 0.084028 0.1763 0.2077 Uncertain 10_5904661_A->G 10 5904661 5904661 A G snp 364.77 0/1 99 60 41 19 0.32 intronic rs61832916 ANKRD16 AU 0.126997 0.1617 0.1823 0.1158 Uncertain 10_5904760_T->C 10 5904760 5904760 T C snp 520.77 0/1 99 39 17 22 0.56 intronic rs7923781 ANKRD16 AU 0.0784744 0.0903 Uncertain 10_5919947_C->T 10 5919947 5919947 C T snp 702.77 1/1 54 25 0 25 1.0 intronic rs2985043 ANKRD16 AU 0.803914 0.8472 Uncertain 10_5920121_T->C 10 5920121 5920121 T C snp 4940.77 1/1 99 196 2 194 0.99 exonic rs1052420 ANKRD16 AU nonsynonymous SNV NM_001009941 exon7 c.A1058G p.Q353R 0.803914 0.8472 0.821544 0.8524 0.8550 0.23 T 1.000 P -1.014 T 0.001 T 0.002 T Pathogenic 10_5922186_T->A 10 5922186 5922186 T A snp 383.77 1/1 30 10 0 10 1.0 intronic rs811561 ANKRD16 AU NM_019046 exon3 c.2168-74T>A 0.865815 0.8472 Uncertain 10_5922375_G->A 10 5922375 5922375 G A snp 385.77 0/1 99 51 33 18 0.35 intronic ANKRD16 AU NM_019046 exon3 c.2247+36G>A Uncertain 10_5924942_C->G 10 5924942 5924942 C G snp 5524.77 1/1 99 192 0 192 1.0 intronic rs617165 ANKRD16 AU NM_019046 exon4 c.4876-26C>G 0.865815 0.8472 0.889897 0.8716 0.8546 Uncertain 10_5925971_C->A 10 5925971 5925971 C A snp 5619.77 1/1 99 204 0 204 1.0 exonic rs631947 ANKRD16 AU synonymous SNV NM_001009941 exon4 c.G648T p.G216G 0.922524 0.9504 0.915654 0.9061 0.9572 Uncertain 10_5926034_T->C 10 5926034 5926034 T C snp 2073.77 0/1 99 175 85 90 0.51 exonic rs3750656 ANKRD16 AU synonymous SNV NM_001009941 exon4 c.A585G p.Q195Q 0.0634984 0.1577 0.026911 0.0554 0.1650 Uncertain 10_5926079_A->C 10 5926079 5926079 A C snp 1544.77 0/1 99 121 61 60 0.5 intronic rs3750657 ANKRD16 AU NM_019046 exon5 c.5948+39A>C 0.398562 0.1895 0.455098 0.4329 0.1894 Uncertain 10_5926080_T->C 10 5926080 5926080 T C snp 1552.77 0/1 99 121 61 60 0.5 intronic rs3750658 ANKRD16 AU NM_019046 exon5 c.5948+40T>C 0.398562 0.1895 0.460941 0.4332 0.1894 Uncertain 10_5926131_G->A 10 5926131 5926131 G A snp 904.77 0/1 99 67 35 32 0.48 intronic rs7919785 ANKRD16 AU NM_019046 exon5 c.5948+91G>A 0.391773 0.1905 Uncertain 10_5926154_A->G 10 5926154 5926154 A G snp 620.77 0/1 99 40 20 20 0.5 intronic rs7907053 ANKRD16 AU NM_019046 exon5 c.5948+114A>G 0.395367 0.1895 Uncertain 10_5929962_G->C 10 5929962 5929962 G C snp 1953.77 0/1 99 138 49 89 0.64 exonic rs2296136 ANKRD16 AU nonsynonymous SNV NM_001009941 exon2 c.C383G p.A128G 0.0605032 0.1429 0.026449 0.0529 0.1438 0.03 T 1.000 D -0.853 T 1.0 D 1.0 D Pathogenic 10_5931230_C->T 10 5931230 5931230 C T snp 266.77 0/1 99 38 24 14 0.37 exonic rs3750659 ANKRD16 AU nonsynonymous SNV NM_001009941 exon1 c.G88A p.G30R 0.0605032 0.1429 0.018544 0.0986 0.2390 0.04 T 0.0 P -1.092 T 0.024 T 0.018 T Pathogenic 10_5932394_G->T 10 5932394 5932394 G T snp 134.77 0/1 99 25 17 8 0.32 upstream rs191098822 ANKRD16 AU 0.063099 0.1558 Uncertain 10_5932475_T->C 10 5932475 5932475 T C snp 96.28 1/1 9 3 0 3 1.0 upstream rs10905405 ANKRD16 AU 0.558506 0.8175 Uncertain 10_5937257_G->A 10 5937257 5937257 G A snp 182.77 0/1 99 13 7 6 0.46 intronic rs77543613 FBXO18 AU NM_032807 exon2 c.698+107G>A 0.077476 0.1567 Uncertain 10_5948657_C->T 10 5948657 5948657 C T snp 525.77 0/1 99 30 12 18 0.6 intronic rs41290311 FBXO18 AU NM_032807 exon4 c.12143+62C>T 0.0609026 0.1448 Uncertain 10_5950771_A->G 10 5950771 5950771 A G snp 224.84 1/1 18 8 0 8 1.0 intronic rs632639 FBXO18 AU NM_032807 exon5 c.14435-116A>G 0.923123 0.9514 Uncertain 10_5951025_T->C 10 5951025 5951025 T C snp 3274.77 0/1 99 226 96 130 0.58 intronic rs595923 FBXO18 AU NM_032807 exon5 c.14566+7T>C 0.408546 0.6607 0.312394 0.4266 0.6722 Uncertain 10_5953148_A->G 10 5953148 5953148 A G snp 765.77 0/1 99 71 43 28 0.39 intronic rs2296138 FBXO18 AU NM_032807 exon7 c.16639+57A>G 0.0790735 0.1587 Uncertain 10_5957301_T->C 10 5957301 5957301 T C snp 530.77 0/1 99 37 16 21 0.57 intronic rs11813102 FBXO18 AU NM_032807 exon10 c.20913-64T>C 0.154353 0.2153 Uncertain 10_5960227_A->G 10 5960227 5960227 A G snp 849.77 0/1 99 65 32 33 0.51 intronic rs2274026 FBXO18 AU NM_032807 exon14 c.23852-77A>G 0.0491214 0.1369 Uncertain 10_5960499_A->G 10 5960499 5960499 A G snp 280.77 0/1 99 19 10 9 0.47 intronic rs2274027 FBXO18 AU NM_032807 exon14 c.23989+58A>G 0.139577 0.1577 Uncertain 10_5963692_C->T 10 5963692 5963692 C T snp 179.77 0/1 99 19 10 9 0.47 intronic rs17146333 FBXO18 AU NM_032807 exon16 c.27080+160C>T 0.0601038 0.1419 Uncertain 10_5966190_G->A 10 5966190 5966190 G A snp 446.77 0/1 99 26 13 13 0.5 intronic rs2274029 FBXO18 AU NM_032807 exon18 c.29821-83G>A 0.497404 0.6627 Uncertain 10_5966192_A->G 10 5966192 5966192 A G snp 998.77 1/1 75 28 0 28 1.0 intronic rs2274030 FBXO18 AU NM_032807 exon18 c.29821-81A>G 0.83127 0.8512 Uncertain 10_5966854_G->A 10 5966854 5966854 G A snp 199.77 0/1 99 20 11 9 0.45 intronic rs11594794 FBXO18 AU NM_001258452 exon18 c.18700+90G>A 0.137979 0.1558 Uncertain 10_5967177_G->A 10 5967177 5967177 G A snp 116.77 0/1 99 10 5 5 0.5 intronic rs7899635 FBXO18 AU NM_032807 exon19 c.30877-152G>A 0.066893 0.1567 Uncertain 10_5978411_T->C 10 5978411 5978411 T C snp 1586.77 1/1 99 58 0 58 1.0 intronic rs646406 FBXO18 AU NM_032807 exon21 c.41966-7T>C 0.829872 0.8512 0.855067 0.8536 0.8582 Uncertain 10_5978629_G->A 10 5978629 5978629 G A snp 1004.77 0/1 99 101 59 42 0.42 intronic rs2274031 FBXO18 AU NM_032807 exon21 c.42098+79G>A 0.063099 0.1558 Uncertain 10_5979117_T->C 10 5979117 5979117 T C snp 1245.77 0/1 99 102 46 56 0.55 exonic rs2274033 FBXO18 AU synonymous SNV NM_032807 exon22 c.T3159C p.C1053C 0.071885 0.1558 0.034446 0.0574 0.1648 Uncertain 10_6005674_G->A 10 6005674 6005674 G A snp 1172.77 1/1 84 44 0 44 1.0 intronic rs3136614 IL15RA AU NM_001243539 exon5 c.10648-31G>A 0.878994 0.9563 0.813548 0.8390 0.9687 Uncertain 10_6041873_C->T 10 6041873 6041873 C T snp 1969.77 0/1 99 170 83 87 0.51 intergenic rs11596136 IL15RA AU 0.252995 0.3591 0.235787 0.2701 0.3627 Uncertain 10_6041923_T->C 10 6041923 6041923 T C snp 2182.77 0/1 99 179 88 91 0.51 intergenic rs10905599 IL15RA AU 0.252995 0.3591 Uncertain 10_6042034_C->T 10 6042034 6042034 C T snp 1998.77 1/1 99 68 0 68 1.0 intergenic rs10795731 IL15RA AU 0.945487 0.9841 Uncertain 10_6054951_C->T 10 6054951 6054951 C T snp 1538.77 0/1 99 102 47 55 0.54 intronic rs7076103 IL2RA AR,AU NM_000417 exon1 c.25+92C>T 0.131989 0.0357 Uncertain 10_6060172_C->- 10 6060172 6060172 C - indel 360.73 0/1 99 41 25 16 0.39 intronic rs3215754 IL2RA AR,AU NM_000417 exon2 c.5248+90delC 0.0519169 0.1786 Uncertain 10_6061277_G->A 10 6061277 6061277 G A snp 469.77 1/1 36 17 0 17 1.0 intronic rs7069976 IL2RA AR,AU NM_000417 exon3 c.6556-113G>A 0.963458 1 Uncertain 10_6061781_T->C 10 6061781 6061781 T C snp 2244.77 0/1 99 176 88 88 0.5 intronic rs10752175 IL2RA AR,AU NM_000417 exon4 c.6998-51T>C 0.808107 0.7708 0.895146 Uncertain 10_6062013_G->A 10 6062013 6062013 G A snp 269.77 0/1 99 30 20 10 0.33 intronic rs2274036 IL2RA AR,AU NM_000417 exon4 c.7070+109G>A 0.0517173 0.1776 Uncertain 10_6062051_T->A 10 6062051 6062051 T A snp 391.77 1/1 30 10 0 10 1.0 intronic rs9804284 IL2RA AR,AU NM_000417 exon4 c.7070+147T>A 0.98762 1 Uncertain 10_6063383_T->C 10 6063383 6063383 T C snp 128.03 1/1 12 4 0 4 1.0 intronic rs942199 IL2RA AR,AU NM_000417 exon5 c.8606-57T>C 0.963458 1 Uncertain 10_6063674_T->C 10 6063674 6063674 T C snp 2594.77 1/1 99 85 0 85 1.0 intronic rs942200 IL2RA AR,AU NM_000417 exon5 c.8822+18T>C 0.887181 0.999 0.882593 0.9461 0.9981 Uncertain 10_6066195_T->A 10 6066195 6066195 T A snp 1537.77 0/1 99 100 38 62 0.62 intronic rs12358961 IL2RA AR,AU NM_000417 exon6 c.11372-11T>A 0.320288 0.4067 0.296863 0.3608 0.3931 Uncertain 10_6067688_A->G 10 6067688 6067688 A G snp 227.77 0/1 99 17 8 9 0.53 intronic rs2025345 IL2RA AR,AU NM_000417 exon7 c.12962-108A>G 0.319888 0.4038 Uncertain 10_6131007_C->A 10 6131007 6131007 C A snp 196.77 0/1 99 14 6 8 0.57 UTR5 rs3750668 RBM17 AU 0.0333466 0.0883 Uncertain 10_6143178_A->T 10 6143178 6143178 A T snp 320.77 0/1 99 28 15 13 0.46 intronic rs41295145 RBM17 AU NM_001145547 exon3 c.4205-55A>T 0.0708866 0.1131 Uncertain 10_6147226_T->C 10 6147226 6147226 T C snp 43.77 0/1 68 4 2 2 0.5 intronic rs75256238 RBM17 AU NM_001145547 exon4 c.8032+166T>C 0.034345 0.0942 Uncertain 10_6150829_CTCTGTC->- 10 6150829 6150835 CTCTGTC - indel 1219.73 1/1 48 39 0 39 1.0 intronic rs374720400 RBM17 AU NM_001145547 exon6 c.11677+124_11677+130delCTCTGTC 0.670527 0.6319 Uncertain 10_6150837_C->T 10 6150837 6150837 C T snp 388.77 1/1 30 12 0 12 1.0 intronic rs568171478 RBM17 AU NM_001145547 exon6 c.11677+132C>T 0.670527 0.6319 Uncertain 10_6150843_G->A 10 6150843 6150843 G A snp 394.77 1/1 30 12 0 12 1.0 intronic rs56386047 RBM17 AU NM_001145547 exon6 c.11677+138G>A 0.665535 0.6319 Uncertain 10_6150844_C->A 10 6150844 6150844 C A snp 388.77 1/1 30 12 0 12 1.0 intronic rs556548595 RBM17 AU NM_001145547 exon6 c.11677+139C>A 0.665535 0.6319 Uncertain 10_6150845_C->T 10 6150845 6150845 C T snp 386.77 1/1 30 12 0 12 1.0 intronic rs568467063 RBM17 AU NM_001145547 exon6 c.11677+140C>T 0.670527 0.6319 Uncertain 10_6150849_CCTG->- 10 6150849 6150852 CCTG - indel 849.73 1/1 36 12 0 12 1.0 intronic rs75593307 RBM17 AU NM_001145547 exon6 c.11677+144_11677+147delCCTG 0.665535 0.6319 Uncertain 10_6156118_T->C 10 6156118 6156118 T C snp 2657.77 1/1 99 107 0 107 1.0 intronic rs10795823 RBM17 AU NM_001145547 exon10 c.17082+8T>C 0.980431 1 0.980163 0.9944 1 Uncertain 10_6188338_A->G 10 6188338 6188338 A G snp 996.77 0/1 99 85 42 43 0.51 UTR5 rs7074082 PFKFB3 AU 0.316893 0.4931 0.2458 0.5211 Uncertain 10_6188543_C->T 10 6188543 6188543 C T snp 959.77 0/1 99 80 38 42 0.53 intronic rs943119 PFKFB3 AU NM_001282630 exon1 c.118+84C>T 0.148762 0.25 Uncertain 10_6188591_A->G 10 6188591 6188591 A G snp 546.77 0/1 99 37 17 20 0.54 intronic rs7074372 PFKFB3 AU NM_001282630 exon1 c.118+132A>G 0.65635 0.6706 Uncertain 10_6245317_G->T 10 6245317 6245317 G T snp 1100.77 0/1 99 74 29 45 0.61 intronic rs6602514 PFKFB3 AU NM_004566 exon1 c.76+18G>T 0.271565 0.1369 0.317440 0.2959 0.1432 Uncertain 10_6258015_T->C 10 6258015 6258015 T C snp 1574.77 1/1 99 49 0 49 1.0 intronic rs2148293 PFKFB3 AU NM_001145443 exon4 c.71127-72T>C 0.873003 0.999 Uncertain 10_6258052_G->A 10 6258052 6258052 G A snp 2680.77 1/1 99 100 0 100 1.0 intronic rs2148294 PFKFB3 AU NM_001145443 exon4 c.71127-35G>A 0.790935 0.8065 0.831386 0.8940 0.7893 Uncertain 10_6258300_A->C 10 6258300 6258300 A C snp 429.77 1/1 33 11 0 11 1.0 intronic rs2516622 PFKFB3 AU NM_001145443 exon4 c.71194+146A>C 0.886182 1 Uncertain 10_6258311_T->C 10 6258311 6258311 T C snp 309.78 1/1 24 8 0 8 1.0 intronic rs2516623 PFKFB3 AU NM_001145443 exon4 c.71194+157T>C 0.886182 1 Uncertain 10_6258796_T->C 10 6258796 6258796 T C snp 2401.77 1/1 99 76 0 76 1.0 intronic rs2182412 PFKFB3 AU NM_001145443 exon5 c.71783+53T>C 0.885982 1 0.886991 Uncertain 10_6258841_C->- 10 6258841 6258841 C - indel 979.73 1/1 75 27 0 27 1.0 intronic rs5782881 PFKFB3 AU NM_001145443 exon5 c.71783+98delC 0.885982 1 Uncertain 10_6258937_A->G 10 6258937 6258937 A G snp 1199.77 1/1 90 34 0 34 1.0 intronic rs2765827 PFKFB3 AU NM_001145443 exon6 c.72137-160A>G 0.885583 1 Uncertain 10_6259239_G->A 10 6259239 6259239 G A snp 1098.77 1/1 84 28 0 28 1.0 intronic rs2516624 PFKFB3 AU NM_001145443 exon6 c.72194+85G>A 0.85603 0.9782 Uncertain 10_6259285_G->A 10 6259285 6259285 G A snp 65.77 0/1 94 8 5 3 0.38 intronic rs10906022 PFKFB3 AU NM_001145443 exon6 c.72194+131G>A 0.478634 0.5139 Uncertain 10_6261704_T->C 10 6261704 6261704 T C snp 263.8 1/1 21 9 0 9 1.0 intronic rs1557111 PFKFB3 AU NM_001145443 exon7 c.74696+48T>C 0.678914 0.7381 0.706443 0.6894 0.7349 Uncertain 10_6262468_G->A 10 6262468 6262468 G A snp 48.74 1/1 6 2 0 2 1.0 intronic rs10466309 PFKFB3 AU NM_001145443 exon8 c.75660-152G>A 0.571286 0.4623 Uncertain 10_6266956_G->T 10 6266956 6266956 G T snp 175.77 0/1 99 16 8 8 0.5 intronic rs4747951 PFKFB3 AU NM_001145443 exon13 c.79216+780G>T 0.383387 0.3006 Uncertain 10_6268422_A->G 10 6268422 6268422 A G snp 332.78 1/1 27 9 0 9 1.0 intronic rs943117 PFKFB3 AU NM_001145443 exon14 c.81368+94A>G 0.769768 0.9474 Uncertain 10_6368707_C->T 10 6368707 6368707 C T snp 764.77 0/1 99 60 27 33 0.55 ncRNA_intronic rs7087657 LOC399715 AU 0.4375 0.2619 Uncertain 10_6368721_G->T 10 6368721 6368721 G T snp 1423.77 1/1 99 44 0 44 1.0 ncRNA_intronic rs7074209 LOC399715 AU 1 1 Uncertain 10_6368724_G->T 10 6368724 6368724 G T snp 1452.77 1/1 99 42 0 42 1.0 ncRNA_intronic rs7074211 LOC399715 AU 1 1 Uncertain 10_6368760_C->T 10 6368760 6368760 C T snp 512.77 1/1 39 13 0 13 1.0 ncRNA_intronic rs7087682 LOC399715 AU 0.663738 0.7331 Uncertain 10_6392848_G->A 10 6392848 6392848 G A snp 712.77 0/1 99 61 31 30 0.49 intergenic rs744254 LOC399715 AU 0.59405 0.6974 0.6785 0.7208 Uncertain 10_6472962_T->G 10 6472962 6472962 T G snp 2762.77 1/1 99 82 0 82 1.0 intronic rs601150 PRKCQ AU NM_001282645 exon2 c.2732+62T>G 0.986022 1 Uncertain 10_6498799_C->G 10 6498799 6498799 C G snp 660.77 0/1 99 64 34 30 0.47 intronic rs2296123 PRKCQ AU NM_001282645 exon4 c.28606+25C>G 0.463458 0.4643 0.409888 0.4227 0.4813 Uncertain 10_6504126_T->C 10 6504126 6504126 T C snp 1148.77 0/1 99 97 50 47 0.48 intronic rs604663 PRKCQ AU NM_001282645 exon5 c.34096-138T>C 0.430112 0.5169 Uncertain 10_6504136_C->G 10 6504136 6504136 C G snp 1352.77 0/1 99 113 55 58 0.51 intronic rs678304 PRKCQ AU NM_001282645 exon5 c.34096-128C>G 0.429912 0.5169 Uncertain 10_6521147_G->A 10 6521147 6521147 G A snp 1202.77 0/1 99 97 47 50 0.52 intronic rs643610 PRKCQ AU NM_001282645 exon7 c.50959+20G>A 0.202276 0.3204 0.187068 0.1941 0.3042 Uncertain 10_6527143_G->A 10 6527143 6527143 G A snp 1847.77 0/1 99 174 96 78 0.45 exonic rs2236379 PRKCQ AU nonsynonymous SNV NM_001282645 exon9 c.C614T p.P205L 0.365415 0.38 0.283100 0.3048 0.4143 0.38 T 0.000 P -0.918 T 0.0 T 0.001 T Pathogenic 10_6527344_A->C 10 6527344 6527344 A C snp 108.77 0/1 99 8 4 4 0.5 intronic rs661891 PRKCQ AU NM_001282645 exon9 c.57063+113A>C 0.428914 0.5327 Uncertain 10_6533625_T->A 10 6533625 6533625 T A snp 313.77 0/1 99 26 15 11 0.42 intronic rs527611 PRKCQ AU NM_001282645 exon11 c.63476-19T>A 0.340855 0.4117 0.307473 0.3994 0.4342 Uncertain 10_6533877_A->G 10 6533877 6533877 A G snp 1400.77 0/1 99 97 42 55 0.57 intronic rs3815975 PRKCQ AU NM_001282645 exon11 c.63606+103A>G 0.437899 0.4415 Uncertain 10_6533900_C->T 10 6533900 6533900 C T snp 1021.77 0/1 99 64 25 39 0.61 intronic rs3815974 PRKCQ AU NM_001282645 exon11 c.63606+126C>T 0.423522 0.4415 Uncertain 10_7205717_C->G 10 7205717 7205717 C G snp 1588.77 0/1 99 170 100 70 0.41 UTR3 rs2692756 SFMBT2 AU 0.0736821 0.1121 0.071967 0.0831 0.1147 Uncertain 10_7244242_C->T 10 7244242 7244242 C T snp 133.03 1/1 12 4 0 4 1.0 intronic rs2497443 SFMBT2 AU NM_001029880 exon9 c.38710-199C>T 0.984425 1 Uncertain 10_7285632_A->G 10 7285632 7285632 A G snp 2277.77 1/1 99 90 3 87 0.97 exonic rs2248474 SFMBT2 AU synonymous SNV NM_001018039 exon9 c.T1008C p.D336D 0.902356 0.9097 0.901891 0.9103 0.9263 Uncertain 10_7318724_G->A 10 7318724 7318724 G A snp 1081.77 1/1 78 38 0 38 1.0 intronic rs7075434 SFMBT2 AU NM_001029880 exon15 c.113122-129G>A 0.685703 0.7609 Uncertain 10_7318803_T->C 10 7318803 7318803 T C snp 3661.77 1/1 99 121 0 121 1.0 intronic rs7097601 SFMBT2 AU NM_001029880 exon15 c.113122-50T>C 0.673522 0.7629 0.634400 0.5922 0.8051 Uncertain 10_7319078_C->G 10 7319078 7319078 C G snp 1139.77 1/1 84 30 0 30 1.0 intronic rs4338435 SFMBT2 AU NM_001029880 exon15 c.113220+127C>G 0.644369 0.7589 Uncertain 10_7319088_A->G 10 7319088 7319088 A G snp 900.77 1/1 69 25 0 25 1.0 intronic rs4611096 SFMBT2 AU NM_001029880 exon15 c.113220+137A>G 0.648163 0.7629 Uncertain 10_7423960_T->C 10 7423960 7423960 T C snp 222.84 1/1 18 8 0 8 1.0 intronic rs2254756 SFMBT2 AU NM_001029880 exon20 c.218180+49T>C 0.961262 1 Uncertain 10_7605067_C->T 10 7605067 7605067 C T snp 1182.77 0/1 99 98 49 49 0.5 exonic rs3824658 ITIH5 AU nonsynonymous SNV NM_032817 exon11 c.G2165A p.R722Q 0.571685 0.5179 0.664616 0.6936 0.4717 0.44 T 0.0 P -1.046 T Pathogenic 10_7605078_C->- 10 7605078 7605078 C - indel 4964.73 1/1 99 118 0 118 1.0 splicing rs398102295 ITIH5 AU NM_030569 exon2 c.34delC 0.903554 0.995 0.9681 0.9949 Pathogenic 10_7605101_A->G 10 7605101 7605101 A G snp 4172.77 1/1 99 149 0 149 1.0 exonic rs10795551 ITIH5 AU nonsynonymous SNV NM_032817 exon10 c.T2132C p.F711S 0.966653 1 0.968476 0.9909 1 0.85 T 1.000 P -0.930 T 0.0 T 0.0 T Pathogenic 10_7605457_G->A 10 7605457 7605457 G A snp 859.77 1/1 63 30 0 30 1.0 intronic rs10737022 ITIH5 AU NM_030569 exon2 c.303+110G>A 0.891174 0.995 Uncertain 10_7614918_T->C 10 7614918 7614918 T C snp 383.77 1/1 30 10 0 10 1.0 intronic rs11255194 ITIH5 AU NM_030569 exon5 c.10060-186T>C 0.41853 0.6161 Uncertain 10_7614936_T->G 10 7614936 7614936 T G snp 575.1 1/1 11 18 1 17 0.94 intronic rs10737023 ITIH5 AU NM_030569 exon5 c.10060-168T>G 0.811901 0.8016 Uncertain 10_7618380_C->T 10 7618380 7618380 C T snp 471.77 1/1 36 17 0 17 1.0 intronic rs3818783 ITIH5 AU NM_030569 exon6 c.13371-35C>T 0.308506 0.5724 0.246970 0.4159 0.6472 Uncertain 10_7618501_A->G 10 7618501 7618501 A G snp 4109.77 1/1 99 150 0 150 1.0 exonic rs2275068 ITIH5 AU synonymous SNV NM_032817 exon6 c.T1251C p.D417D 0.53115 0.7679 0.493079 0.5481 0.7660 Uncertain 10_7618686_T->G 10 7618686 7618686 T G snp 7230.77 1/1 99 250 0 250 1.0 exonic rs2275069 ITIH5 AU nonsynonymous SNV NM_032817 exon6 c.A1066C p.T356P 0.530551 0.7669 0.494003 0.5460 0.7693 0.5 T 0.0 P -1.052 T 0.0 T 0.0 T Pathogenic 10_7618993_G->A 10 7618993 7618993 G A snp 1866.77 1/1 99 67 0 67 1.0 intronic rs10458802 ITIH5 AU NM_030569 exon6 c.13931+18G>A 0.530351 0.7669 0.493849 0.5465 0.7641 Uncertain 10_7618997_G->A 10 7618997 7618997 G A snp 1831.77 1/1 99 63 0 63 1.0 intronic rs10458803 ITIH5 AU NM_030569 exon6 c.13931+22G>A 0.530351 0.7669 0.494387 0.5464 0.7644 Uncertain 10_7621578_C->A 10 7621578 7621578 C A snp 569.77 0/1 99 40 20 20 0.5 intronic rs11255201 ITIH5 AU NM_030569 exon7 c.16673-139C>A 0.585663 0.4831 Uncertain 10_7622047_A->G 10 7622047 7622047 A G snp 477.77 1/1 36 16 0 16 1.0 intronic rs12256183 ITIH5 AU NM_030569 exon7 c.16983+20A>G 0.885383 1 0.855362 0.8816 0.9995 Uncertain 10_7622075_G->C 10 7622075 7622075 G C snp 298.78 1/1 24 9 0 9 1.0 intronic rs12262854 ITIH5 AU NM_030569 exon7 c.16983+48G>C 0.882788 1 0.852814 0.8688 0.9988 Uncertain 10_7627746_C->T 10 7627746 7627746 C T snp 236.8 1/1 21 10 0 10 1.0 intronic rs12413114 ITIH5 AU NM_030569 exon8 c.22819-117C>T 0.354034 0.5258 Uncertain 10_7627791_-->AAAAC 10 7627791 7627791 - AAAAC indel 1789.73 1/1 78 26 0 26 1.0 intronic rs368754993 ITIH5 AU NM_030569 exon8 c.22819-72insAAAAC Uncertain 10_7627805_C->A 10 7627805 7627805 C A snp 1809.28 1/1 9 67 4 63 0.94 intronic rs12413124 ITIH5 AU NM_030569 exon8 c.22819-58C>A Uncertain 10_7627812_A->G 10 7627812 7627812 A G snp 1861.77 1/1 32 76 5 71 0.93 intronic rs7073397 ITIH5 AU NM_030569 exon8 c.22819-51A>G Uncertain 10_7629122_A->G 10 7629122 7629122 A G snp 48.74 1/1 6 2 0 2 1.0 intronic rs883169 ITIH5 AU NM_030569 exon8 c.22988+1090A>G 0.341653 0.5238 Uncertain 10_7629168_C->A 10 7629168 7629168 C A snp 602.77 1/1 45 18 0 18 1.0 intronic rs945149 ITIH5 AU NM_030569 exon8 c.22988+1136C>A 0.96905 1 Uncertain 10_7629203_C->T 10 7629203 7629203 C T snp 976.77 1/1 72 35 0 35 1.0 intronic rs4747526 ITIH5 AU NM_030569 exon8 c.22988+1171C>T 0.342053 0.5248 Uncertain 10_7629411_T->G 10 7629411 7629411 T G snp 2448.77 1/1 99 90 0 90 1.0 intronic rs4747527 ITIH5 AU NM_030569 exon8 c.22988+1379T>G 0.342053 0.5248 Uncertain 10_7629417_A->C 10 7629417 7629417 A C snp 2466.77 1/1 99 87 0 87 1.0 intronic rs4747528 ITIH5 AU NM_030569 exon8 c.22988+1385A>C 0.342053 0.5248 Uncertain 10_7642818_G->A 10 7642818 7642818 G A snp 50.74 1/1 6 2 0 2 1.0 intronic rs7076504 ITIH5 AU NM_030569 exon8 c.22988+14786G>A 0.897165 0.8889 Uncertain 10_7659273_TAACT->- 10 7659273 7659277 TAACT - indel 485.73 0/1 99 14 4 10 0.71 intronic rs150273439 ITIH5 AU NM_030569 exon10 c.54201+28_54201+32delTAACT 0.121389 0.1472 0.2727 Uncertain 10_7763661_A->G 10 7763661 7763661 A G snp 4775.77 1/1 99 180 0 180 1.0 exonic rs7075296 ITIH2 AU nonsynonymous SNV NM_002216 exon8 c.A788G p.N263S 0.991214 1 0.988928 0.9973 1 0.27 T 0.001 P -1.006 T 0.043 T 0.014 T Pathogenic 10_7769604_A->G 10 7769604 7769604 A G snp 2007.77 1/1 99 61 0 61 1.0 intronic rs2277226 ITIH2 AU NM_002216 exon11 c.24268-61A>G 0.731629 0.6984 Uncertain 10_7773976_A->G 10 7773976 7773976 A G snp 1869.77 1/1 99 71 0 71 1.0 intronic rs7098319 ITIH2 AU NM_002216 exon13 c.28562+17A>G 0.715256 0.6954 0.748270 0.7576 0.7003 Uncertain 10_7776831_C->T 10 7776831 7776831 C T snp 1802.77 1/1 99 63 0 63 1.0 intronic rs1926937 ITIH2 AU NM_002216 exon15 c.31487-53C>T 0.369808 0.4018 Uncertain 10_7785017_T->C 10 7785017 7785017 T C snp 272.77 0/1 78 12 3 9 0.75 intronic rs3736965 ITIH2 AU NM_002216 exon17 c.39711-91T>C 0.616014 0.6617 Uncertain 10_7788495_T->C 10 7788495 7788495 T C snp 819.77 0/1 99 66 33 33 0.5 intronic rs7912419 ITIH2 AU NM_002216 exon20 c.43158-60T>C 0.826078 0.8889 Uncertain 10_7795911_A->G 10 7795911 7795911 A G snp 2267.77 0/1 99 192 92 100 0.52 UTR3 rs7342066 KIN AU 0.639776 0.5923 Uncertain 10_7795925_C->T 10 7795925 7795925 C T snp 2166.77 0/1 99 206 106 100 0.49 UTR3 rs7067698 KIN AU 0.04373 0.0496 Uncertain 10_7798033_A->T 10 7798033 7798033 A T snp 653.77 0/1 99 45 15 30 0.67 UTR3 rs75487802 KIN AU 0.0702875 0.2272 0.011857 0.0370 0.2309 Uncertain 10_7801960_T->C 10 7801960 7801960 T C snp 526.77 0/1 99 45 22 23 0.51 intronic rs77953690 KIN AU NM_012311 exon2 c.3911+7T>C 0.0704872 0.2272 0.011782 0.0385 0.2408 Uncertain 10_7804308_C->T 10 7804308 7804308 C T snp 1315.77 1/1 96 39 0 39 1.0 intronic rs1980856 KIN AU NM_012311 exon3 c.6377-111C>T 0.958666 1 Uncertain 10_7820704_-->AACAAC 10 7820704 7820704 - AACAAC indel 1265.73 0/1 99 33 15 18 0.55 intronic rs111726843 KIN AU NM_012311 exon9 c.22758-96insAACAAC 0.43151 0.6925 Uncertain 10_7821081_A->T 10 7821081 7821081 A T snp 102.77 0/1 99 9 5 4 0.44 intronic rs7095166 KIN AU NM_012311 exon9 c.22940+99A>T 0.138379 0.247 Uncertain 10_7825297_A->T 10 7825297 7825297 A T snp 40.77 0/1 31 3 1 2 0.67 intronic rs10458814 KIN AU NM_012311 exon12 c.27096+159A>T 0.779752 0.8452 Uncertain 10_7829759_C->T 10 7829759 7829759 C T snp 1939.77 0/1 99 170 88 82 0.48 intronic rs17553878 KIN AU NM_012311 exon13 c.31740-23C>T 0.208267 0.1419 0.327772 0.3073 0.1610 Uncertain 10_7830319_G->C 10 7830319 7830319 G C snp 1591.77 1/1 99 50 0 50 1.0 intronic rs1475406 ATP5C1 AU NM_005174 exon1 c.56+93G>C 0.834065 0.9325 Uncertain 10_7846152_T->C 10 7846152 7846152 T C snp 3006.77 1/1 99 109 0 109 1.0 intronic rs914609 ATP5C1 AU NM_005174 exon8 c.14647+1335T>C 0.946486 1 0.954308 0.9877 1 Uncertain 10_7866268_C->G 10 7866268 7866268 C G snp 4534.77 1/1 99 161 0 161 1.0 intronic rs7070208 TAF3 AU NM_031923 exon2 c.5608-12C>G 0.966454 1 0.972406 0.8505 0.9719 Uncertain 10_7866557_T->C 10 7866557 7866557 T C snp 660.77 0/1 99 46 20 26 0.57 intronic rs1244471 TAF3 AU NM_031923 exon2 c.5851+34T>C 0.627196 0.7897 0.537031 0.5722 0.7729 Uncertain 10_8006798_A->G 10 8006798 8006798 A G snp 2949.77 0/1 99 249 130 119 0.48 exonic rs4747647 TAF3 AU nonsynonymous SNV NM_031923 exon3 c.A1325G p.N442S 0.542133 0.7103 0.529178 0.6047 0.7033 0.76 T 0.0 P -0.981 T 0.003 T 0.003 T Pathogenic 10_8007559_G->C 10 8007559 8007559 G C snp 348.77 0/1 99 32 18 14 0.44 exonic rs10795583 TAF3 AU nonsynonymous SNV NM_031923 exon3 c.G2086C p.V696L 0.577276 0.7183 0.549301 0.6295 0.7083 0.28 T 0.000 P -1.024 T 0.0 T 0.0 T Pathogenic 10_8007560_T->C 10 8007560 8007560 T C snp 362.77 0/1 99 34 18 16 0.47 exonic rs1244229 TAF3 AU nonsynonymous SNV NM_031923 exon3 c.T2087C p.V696A 0.690895 0.7272 0.677373 0.7239 0.7202 0.68 T 0.000 P -1.067 T 0.0 T 0.0 T Pathogenic 10_8017034_AAAAAAAAAAAAA->- 10 8017034 8017046 AAAAAAAAAAAAA - indel 4527.73 0/1 99 34 3 31 0.91 intronic rs58555368 TAF3 AU NM_031923 exon4 c.158531-2169_158531-2157delAAAAAAAAAAAAA 0.823283 0.8591 0.4422 0.3571 Uncertain 10_8019124_A->G 10 8019124 8019124 A G snp 1002.77 0/1 99 83 40 43 0.52 intronic rs10795584 TAF3 AU NM_031923 exon4 c.158531-79A>G 0.478235 0.4157 Uncertain 10_8055615_G->C 10 8055615 8055615 G C snp 1522.77 0/1 99 136 68 68 0.5 intronic rs7073198 TAF3 AU NM_031923 exon6 c.195021-78G>C 0.101438 0.1062 Uncertain 10_8055876_G->A 10 8055876 8055876 G A snp 244.77 0/1 99 22 12 10 0.45 intronic rs10795586 TAF3 AU NM_031923 exon6 c.195128+76G>A 0.14397 0.1062 Uncertain 10_8056495_C->T 10 8056495 8056495 C T snp 1237.77 0/1 99 76 30 46 0.61 intronic rs10905267 TAF3 AU NM_031923 exon7 c.195927-104C>T 0.142772 0.1062 Uncertain 10_8093034_G->T 10 8093034 8093034 G T snp 1087.77 1/1 78 42 1 41 0.98 ncRNA_exonic rs501764 GATA3-AS1 AU 0.921526 0.9891 0.850686 0.8674 0.9862 Uncertain 10_8093185_T->C 10 8093185 8093185 T C snp 788.77 1/1 57 29 0 29 1.0 ncRNA_exonic rs485411 GATA3-AS1 AU 0.883786 0.9593 0.795447 0.8220 0.9489 Uncertain 10_8111409_C->T 10 8111409 8111409 C T snp 5367.77 1/1 99 181 0 181 1.0 intronic rs422628 GATA3 AD NM_001002295 exon5 c.13817-26C>T 0.826877 0.9544 0.753498 0.8025 0.9514 Uncertain 10_9449279_T->C 10 9449279 9449279 T C snp 40.77 0/1 69 63 53 10 0.16 intergenic rs12259235 LOC101928272 AU Uncertain 10_9449306_C->T 10 9449306 9449306 C T snp 76.77 0/1 99 71 63 8 0.11 intergenic rs61843461 LOC101928272 AU Uncertain 10_9449318_G->T 10 9449318 9449318 G T snp 186.77 0/1 99 94 70 24 0.26 intergenic rs12264370 LOC101928272 AU Uncertain 10_9449328_C->G 10 9449328 9449328 C G snp 147.77 0/1 99 108 85 23 0.21 intergenic rs12250107 LOC101928272 AU Uncertain 10_9449341_A->G 10 9449341 9449341 A G snp 386.77 0/1 99 146 116 30 0.21 intergenic rs61843462 LOC101928272 AU Uncertain 10_9449347_C->G 10 9449347 9449347 C G snp 449.77 0/1 99 159 127 32 0.2 intergenic rs61843463 LOC101928272 AU Uncertain 10_9449368_A->G 10 9449368 9449368 A G snp 433.77 0/1 99 200 156 44 0.22 intergenic rs61843464 LOC101928272 AU Uncertain 10_9449465_A->G 10 9449465 9449465 A G snp 6210.77 1/1 99 239 4 235 0.98 intergenic rs61843465 LOC101928272 AU 0.998003 1 Uncertain 10_9449476_A->G 10 9449476 9449476 A G snp 507.77 0/1 99 237 166 71 0.3 intergenic LOC101928272 AU Uncertain 10_9449482_C->G 10 9449482 9449482 C G snp 384.77 0/1 99 237 178 59 0.25 intergenic rs76689120 LOC101928272 AU Uncertain 10_9449495_T->C 10 9449495 9449495 T C snp 290.77 0/1 99 242 203 39 0.16 intergenic rs370743193 LOC101928272 AU Uncertain 10_9449509_C->G 10 9449509 9449509 C G snp 1949.77 0/1 99 248 125 123 0.5 intergenic rs36192048 LOC101928272 AU Uncertain 10_9449529_G->A 10 9449529 9449529 G A snp 1106.77 0/1 99 250 188 62 0.25 intergenic rs61843467 LOC101928272 AU Uncertain 10_9449530_G->A 10 9449530 9449530 G A snp 75.77 0/1 99 250 214 36 0.14 intergenic rs759710771 LOC101928272 AU Uncertain 10_9449536_G->C 10 9449536 9449536 G C snp 1274.77 0/1 99 249 154 95 0.38 intergenic rs61843468 LOC101928272 AU Uncertain 10_9449563_G->C 10 9449563 9449563 G C snp 2308.77 0/1 99 244 117 127 0.52 intergenic rs61843469 LOC101928272 AU Uncertain 10_9449628_A->G 10 9449628 9449628 A G snp 2164.77 1/1 99 90 1 89 0.99 intergenic rs61843470 LOC101928272 AU 0.76258 0.9296 Uncertain 10_9449805_C->G 10 9449805 9449805 C G snp 302.78 1/1 27 38 27 11 0.29 intergenic rs112685402 LOC101928272 AU Uncertain 10_9449826_A->G 10 9449826 9449826 A G snp 384.77 1/1 33 28 15 13 0.46 intergenic LOC101928272 AU Uncertain 10_9449831_G->A 10 9449831 9449831 G A snp 381.77 1/1 33 26 13 13 0.5 intergenic LOC101928272 AU Uncertain 10_9449833_T->A 10 9449833 9449833 T A snp 384.77 1/1 33 24 10 14 0.58 intergenic LOC101928272 AU Uncertain 10_9449834_T->C 10 9449834 9449834 T C snp 386.77 1/1 33 24 11 13 0.54 intergenic LOC101928272 AU Uncertain 10_9449835_G->A 10 9449835 9449835 G A snp 382.77 1/1 33 24 11 13 0.54 intergenic LOC101928272 AU Uncertain 10_9449836_G->C 10 9449836 9449836 G C snp 389.77 1/1 33 24 11 13 0.54 intergenic LOC101928272 AU Uncertain 10_11259664_C->T 10 11259664 11259664 C T snp 83.77 0/1 69 5 2 3 0.6 intronic rs543020843 CELF2 AU NM_006561 exon3 c.199418+194C>T 0.000199681 Uncertain 10_11290997_A->C 10 11290997 11290997 A C snp 1199.77 1/1 87 31 0 31 1.0 intronic rs2653522 CELF2 AU NM_006561 exon4 c.231063-118A>C 0.639776 0.8204 Uncertain 10_11299413_-->A 10 11299413 11299413 - A indel 141.73 0/1 99 11 6 5 0.45 intronic rs3832665 CELF2 AU NM_006561 exon5 c.239648-287insA 0.104233 0.1329 Uncertain 10_11299735_A->T 10 11299735 11299735 A T snp 1548.77 0/1 99 121 48 73 0.6 exonic rs2277212 CELF2 AU synonymous SNV NM_001025076 exon5 c.A345T p.V115V 0.78115 0.8611 0.741608 0.7576 0.8459 Uncertain 10_11316909_G->C 10 11316909 11316909 G C snp 696.77 0/1 99 59 34 25 0.42 intronic rs2244576 CELF2 AU NM_006561 exon8 c.256967-110G>C 0.822085 0.9663 Uncertain 10_11316987_G->A 10 11316987 11316987 G A snp 1278.77 0/1 99 130 75 55 0.42 intronic rs2244573 CELF2 AU NM_006561 exon8 c.256967-32G>A 0.426318 0.2123 0.586540 0.5320 0.1795 Uncertain 10_11317257_T->C 10 11317257 11317257 T C snp 221.77 0/1 86 10 3 7 0.7 intronic rs2134361 CELF2 AU NM_006561 exon8 c.257031+174T>C 0.851238 0.9663 Uncertain 10_11330184_T->C 10 11330184 11330184 T C snp 143.77 0/1 99 13 8 5 0.38 intronic rs11257049 CELF2 AU NM_006561 exon9 c.270328-196T>C 0.48762 0.3562 Uncertain 10_11330525_G->A 10 11330525 11330525 G A snp 2287.77 0/1 99 204 108 96 0.47 intronic rs2277214 CELF2 AU NM_006561 exon9 c.270463+10G>A 0.486222 0.3512 0.638172 0.6239 0.3062 Uncertain 10_11356093_-->TTTG 10 11356093 11356093 - TTTG indel 1836.73 1/1 81 27 0 27 1.0 intronic rs3064962 CELF2 AU NM_006561 exon10 c.296049-8insTTTG 0.953075 0.9732 0.990792 0.9979 1 Uncertain 10_11356160_C->T 10 11356160 11356160 C T snp 779.77 0/1 99 75 42 33 0.44 exonic rs2246449 CELF2 AU synonymous SNV NM_001025076 exon10 c.C942T p.L314L 0.451078 0.4871 0.356223 0.3493 0.4491 Uncertain 10_11360673_A->G 10 11360673 11360673 A G snp 2902.77 1/1 99 98 0 98 1.0 ncRNA_exonic rs2279809 CELF2-AS1 AU 0.473442 0.4058 0.5005 0.4247 Uncertain 10_11362790_T->- 10 11362790 11362790 T - indel 1529.73 0/1 99 194 55 139 0.72 ncRNA_intronic rs35548374 CELF2-AS1 AU 0.610423 0.5486 0.4719 0.4725 Uncertain 10_11367781_T->- 10 11367781 11367781 T - indel 6255.73 1/1 99 202 1 201 1.0 ncRNA_intronic rs3832668 CELF2-AS1 AU 0.406949 0.3849 0.434760 0.4127 0.4092 Uncertain 10_11504752_T->C 10 11504752 11504752 T C snp 2819.77 0/1 99 226 106 120 0.53 exonic rs12570211 USP6NL AU synonymous SNV NM_001080491 exon14 c.A2226G p.P742P 0.0994409 0.1319 0.050638 0.0801 0.1286 Uncertain 10_11505175_A->G 10 11505175 11505175 A G snp 1466.77 0/1 99 119 63 56 0.47 exonic rs3740204 USP6NL AU synonymous SNV NM_001080491 exon14 c.T1803C p.P601P 0.499401 0.7351 0.378398 0.3697 0.7222 Uncertain 10_11527786_T->C 10 11527786 11527786 T C snp 1551.77 0/1 99 163 82 81 0.5 intronic rs3824642 USP6NL AU NM_014688 exon5 c.23376-29T>C 0.191494 0.4444 0.077721 0.1144 0.4938 Uncertain 10_11532658_T->C 10 11532658 11532658 T C snp 395.77 0/1 99 24 8 16 0.67 intronic rs17150444 USP6NL AU NM_014688 exon7 c.28391-172T>C 0.193291 0.4425 Uncertain 10_11532807_T->C 10 11532807 11532807 T C snp 689.77 0/1 99 59 25 34 0.58 intronic rs882205 USP6NL AU NM_014688 exon7 c.28391-23T>C 0.0716853 0.0903 0.028230 0.0723 0.1299 Uncertain 10_11567271_G->A 10 11567271 11567271 G A snp 83.77 0/1 70 7 3 4 0.57 intronic rs10508424 USP6NL AU NM_014688 exon12 c.62945-113G>A 0.190895 0.4573 Uncertain 10_11569490_G->C 10 11569490 11569490 G C snp 1372.77 0/1 99 148 86 62 0.42 intronic rs78495996 USP6NL AU NM_014688 exon13 c.65059-8G>C 0.0117812 0.0456 0.006583 0.0188 0.0928 Uncertain 10_11569722_T->C 10 11569722 11569722 T C snp 74.77 0/1 69 5 2 3 0.6 intronic rs17150509 USP6NL AU NM_014688 exon13 c.65127+156T>C 0.190695 0.4395 Uncertain 10_11653772_-->GCGGCCCCGG 10 11653772 11653772 - GCGGCCCCGG indel 1750.73 0/1 99 31 13 18 0.58 intergenic rs145486773 USP6NL AU 0.300519 0.6012 Uncertain 10_11784709_C->T 10 11784709 11784709 C T snp 376.77 0/1 99 28 12 16 0.57 exonic rs560916612 ECHDC3 AU nonsynonymous SNV NM_024693 exon1 c.C134T p.P45L 0.00359425 0.0159 0.34 T 0.996 N -1.022 T 0.614 T 0.025 P Pathogenic 10_11789250_G->A 10 11789250 11789250 G A snp 56.74 1/1 6 2 0 2 1.0 intronic rs4750088 ECHDC3 AU NM_024693 exon2 c.4772-97G>A 0.922324 1 Uncertain 10_11789290_G->C 10 11789290 11789290 G C snp 463.77 1/1 36 12 0 12 1.0 intronic rs4750089 ECHDC3 AU NM_024693 exon2 c.4772-57G>C 0.922324 1 Uncertain 10_11789382_G->A 10 11789382 11789382 G A snp 1773.77 1/1 99 65 0 65 1.0 exonic rs4750090 ECHDC3 AU nonsynonymous SNV NM_024693 exon2 c.G205A p.A69T 0.913538 1 0.910734 0.9744 0.9999 0.06 T 1.000 P -1.025 T 0.989 D 0.846 D Pathogenic 10_11789405_G->A 10 11789405 11789405 G A snp 2194.77 1/1 99 82 0 82 1.0 exonic rs4750091 ECHDC3 AU synonymous SNV NM_024693 exon2 c.G228A p.K76K 0.922324 1 0.924496 0.9786 0.9999 Uncertain 10_11789511_C->G 10 11789511 11789511 C G snp 1982.77 1/1 99 74 0 74 1.0 intronic rs4750092 ECHDC3 AU NM_024693 exon2 c.4894+42C>G 0.913538 1 0.911041 0.9750 0.9999 Uncertain 10_11791320_T->C 10 11791320 11791320 T C snp 48.74 1/1 6 2 0 2 1.0 intronic rs1873735 ECHDC3 AU NM_024693 exon3 c.6918-173T>C 0.922324 1 Uncertain 10_11791742_CCAGCAAT->- 10 11791742 11791749 CCAGCAAT - indel 1762.73 1/1 51 35 0 35 1.0 intronic rs58243400 ECHDC3 AU NM_024693 exon3 c.7016+151_7016+158delCCAGCAAT 0.923522 1 Uncertain 10_11797436_T->C 10 11797436 11797436 T C snp 6835.77 1/1 99 248 0 248 1.0 exonic rs7899215 ECHDC3 AU synonymous SNV NM_024693 exon4 c.T420C p.V140V 0.93131 1 0.936337 0.9813 0.9999 Uncertain 10_11797467_G->A 10 11797467 11797467 G A snp 7138.77 1/1 99 250 0 250 1.0 exonic rs7910140 ECHDC3 AU nonsynonymous SNV NM_024693 exon4 c.G451A p.A151T 0.915935 1 0.912194 0.9757 0.9999 1 T 0.225 P -0.933 T 0.007 T 0.023 T Pathogenic 10_11797619_C->G 10 11797619 11797619 C G snp 2838.77 1/1 99 99 0 99 1.0 intronic rs902892 ECHDC3 AU NM_024693 exon4 c.13032+12C>G 0.92472 1 0.925727 0.9806 0.9999 Uncertain 10_11797675_G->A 10 11797675 11797675 G A snp 1268.77 1/1 93 35 0 35 1.0 intronic rs3750695 ECHDC3 AU NM_024693 exon4 c.13032+68G>A 0.231629 0.2232 Uncertain 10_11797758_G->A 10 11797758 11797758 G A snp 56.74 1/1 6 2 0 2 1.0 intronic rs3750694 ECHDC3 AU NM_024693 exon4 c.13032+151G>A 0.513778 0.4683 Uncertain 10_11978499_T->G 10 11978499 11978499 T G snp 667.77 0/1 99 67 36 31 0.46 intronic rs7921794 UPF2 AU NM_015542 exon4 c.15247-44T>G 0.708267 0.8442 0.570198 0.5630 0.8453 Uncertain 10_12021312_G->A 10 12021312 12021312 G A snp 73.77 0/1 28 4 1 3 0.75 intronic rs3740023 UPF2 AU NM_015542 exon14 c.57868+148G>A 0.333267 0.4077 Uncertain 10_12039646_T->C 10 12039646 12039646 T C snp 758.77 0/1 99 40 9 31 0.78 intronic UPF2 AU NM_015542 exon15 c.76374-24T>C Uncertain 10_12068542_C->T 10 12068542 12068542 C T snp 1111.77 0/1 99 97 50 47 0.48 intronic rs12415637 UPF2 AU NM_015542 exon20 c.107447-2201C>T 0.333866 0.4147 Uncertain 10_12071397_G->A 10 12071397 12071397 G A snp 1763.77 0/1 99 197 114 83 0.42 exonic rs11257490 UPF2 AU synonymous SNV NM_080599 exon3 c.C492T p.L164L 0.261781 0.4435 0.200600 0.2092 0.4455 Uncertain 10_12111090_T->C 10 12111090 12111090 T C snp 2557.77 1/1 99 102 0 102 1.0 exonic rs1279138 DHTKD1 AR,AD nonsynonymous SNV NM_018706 exon1 c.T58C p.F20L 0.970248 1 0.967485 0.9907 1 0.38 T 0.0 P -1.053 T 0.0 T 0.0 T Pathogenic 10_12123363_T->A 10 12123363 12123363 T A snp 133.77 0/1 99 18 12 6 0.33 intronic rs1722446 DHTKD1 AR,AD NM_018706 exon2 c.12438-107T>A 0.234625 0.2956 Uncertain 10_12123667_A->C 10 12123667 12123667 A C snp 632.77 0/1 99 37 15 22 0.59 intronic rs1722445 DHTKD1 AR,AD NM_018706 exon2 c.12594+41A>C 0.273762 0.2976 0.248501 0.2201 0.3136 Uncertain 10_12140030_C->G 10 12140030 12140030 C G snp 1107.77 0/1 99 90 47 43 0.48 intronic rs10906076 DHTKD1 AR,AD NM_018706 exon8 c.28963+35C>G 0.720847 0.7044 0.737890 0.7737 0.6892 Uncertain 10_12143105_C->G 10 12143105 12143105 C G snp 1620.77 0/1 99 130 65 65 0.5 exonic rs2062988 DHTKD1 AR,AD nonsynonymous SNV NM_018706 exon10 c.C1821G p.I607M 0.724042 0.7054 0.742042 0.7788 0.6878 0.22 T 0.392 P -1.044 T 0.0 T 0.001 T Pathogenic 10_12148259_A->C 10 12148259 12148259 A C snp 3138.77 1/1 99 118 0 118 1.0 exonic rs1701472 DHTKD1 AR,AD synonymous SNV NM_018706 exon11 c.A1911C p.P637P 0.954073 1 0.949485 0.9858 1 Uncertain 10_12148286_T->C 10 12148286 12148286 T C snp 3511.77 1/1 99 124 0 124 1.0 exonic rs1615510 DHTKD1 AR,AD synonymous SNV NM_018706 exon11 c.T1938C p.F646F 0.964058 1 0.959480 0.9888 1 Uncertain 10_12148508_C->T 10 12148508 12148508 C T snp 71.77 0/1 99 7 4 3 0.43 intronic rs138598207 DHTKD1 AR,AD NM_018706 exon11 c.37363+113C>T 0.00658946 0.0317 Uncertain 10_12149939_C->T 10 12149939 12149939 C T snp 3419.77 1/1 99 129 0 129 1.0 exonic rs1722462 DHTKD1 AR,AD synonymous SNV NM_018706 exon12 c.C2079T p.I693I 0.903155 0.9821 0.862371 0.9029 0.9730 Uncertain 10_12154833_C->T 10 12154833 12154833 C T snp 261.8 1/1 21 7 0 7 1.0 intronic rs1701470 DHTKD1 AR,AD NM_018706 exon13 c.43866-65C>T 0.416134 0.498 Uncertain 10_12159472_A->C 10 12159472 12159472 A C snp 264.8 1/1 21 7 0 7 1.0 intronic rs2658193 DHTKD1 AR,AD NM_018706 exon14 c.48639-199A>C 0.895966 0.9792 Uncertain 10_12159647_A->G 10 12159647 12159647 A G snp 3927.77 1/1 99 152 0 152 1.0 intronic rs2399771 DHTKD1 AR,AD NM_018706 exon14 c.48639-24A>G 0.958466 1 0.953099 0.9863 1 Uncertain 10_12160572_A->G 10 12160572 12160572 A G snp 139.03 1/1 12 5 0 5 1.0 intronic rs11257542 DHTKD1 AR,AD NM_018706 exon15 c.49715-175A>G 0.529952 0.6607 Uncertain 10_12160590_C->G 10 12160590 12160590 C G snp 158.77 0/1 94 8 3 5 0.63 intronic rs182114593 DHTKD1 AR,AD NM_018706 exon15 c.49715-157C>G 0.111422 0.244 Uncertain 10_12160591_C->T 10 12160591 12160591 C T snp 158.77 0/1 96 8 3 5 0.63 intronic rs185465127 DHTKD1 AR,AD NM_018706 exon15 c.49715-156C>T 0.113618 0.246 Uncertain 10_12160602_T->C 10 12160602 12160602 T C snp 313.77 0/1 51 11 2 9 0.82 intronic rs11257543 DHTKD1 AR,AD NM_018706 exon15 c.49715-145T>C 0.69988 0.8532 Uncertain 10_12160623_C->T 10 12160623 12160623 C T snp 482.77 0/1 99 29 13 16 0.55 intronic rs11257545 DHTKD1 AR,AD NM_018706 exon15 c.49715-124C>T 0.829073 0.8621 Uncertain 10_12162551_A->G 10 12162551 12162551 A G snp 52.74 1/1 6 2 0 2 1.0 intronic rs7100048 DHTKD1 AR,AD NM_018706 exon17 c.51753-234A>G 0.760783 0.7827 Uncertain 10_12171740_G->A 10 12171740 12171740 G A snp 742.77 0/1 99 84 46 38 0.45 UTR5 rs11257552 SEC61A2 AU 0.378195 0.3333 0.338009 0.4883 0.3764 Uncertain 10_12172775_G->A 10 12172775 12172775 G A snp 460.77 0/1 99 47 27 20 0.43 ncRNA_exonic rs7070684 MIR548AK AU 0.378794 0.3343 0.75 . Uncertain 10_12191933_C->T 10 12191933 12191933 C T snp 2700.77 0/1 99 216 104 112 0.52 exonic rs10466280 SEC61A2 AU synonymous SNV NM_001142628 exon5 c.C369T p.A123A 0.424321 0.5258 0.417269 0.4165 0.5338 1.0 P -0.931 T Likely benign 10_12195881_G->A 10 12195881 12195881 G A snp 475.77 0/1 99 54 37 17 0.31 intronic rs2895501 SEC61A2 AU NM_001142627 exon7 c.25990-1895G>A 0.423522 0.5278 Uncertain 10_12198019_G->A 10 12198019 12198019 G A snp 149.77 0/1 99 14 8 6 0.43 intronic rs3758376 SEC61A2 AU NM_001142627 exon7 c.26144+89G>A 0.41893 0.5278 Uncertain 10_12199742_T->C 10 12199742 12199742 T C snp 54.74 1/1 6 2 0 2 1.0 intronic rs4750174 SEC61A2 AU NM_001142627 exon9 c.28120-164T>C 0.439696 0.5278 Uncertain 10_12200125_C->T 10 12200125 12200125 C T snp 431.77 0/1 99 42 24 18 0.43 intronic rs4750175 SEC61A2 AU NM_001142627 exon9 c.28318+21C>T 0.422724 0.5258 0.395769 0.4116 0.5225 Uncertain 10_12202866_A->T 10 12202866 12202866 A T snp 601.77 0/1 99 53 29 24 0.45 intronic rs10906092 SEC61A2 AU NM_001142627 exon10 c.31142-62A>T 0.423123 0.5268 Uncertain 10_12203197_C->G 10 12203197 12203197 C G snp 336.78 1/1 27 9 0 9 1.0 intronic rs2399784 SEC61A2 AU NM_001142627 exon10 c.31334+77C>G 0.994609 1 Uncertain 10_12206193_G->T 10 12206193 12206193 G T snp 93.28 1/1 9 3 0 3 1.0 intronic rs876089 SEC61A2 AU NM_001142628 exon11 c.34480-73G>T 0.508387 0.4425 Uncertain 10_12209752_T->C 10 12209752 12209752 T C snp 2542.77 0/1 99 198 92 106 0.54 exonic rs6686 NUDT5 AU synonymous SNV NM_014142 exon10 c.A609G p.A203A 0.46226 0.5575 0.481855 0.4763 0.5574 Uncertain 10_12209937_T->- 10 12209937 12209937 T - indel 752.73 0/1 99 58 22 36 0.62 intronic rs71513318 NUDT5 AU NM_014142 exon1 c.110+127delT 0.422125 0.5278 Uncertain 10_12212186_T->A 10 12212186 12212186 T A snp 1882.77 0/1 99 176 90 86 0.49 intronic rs11257577 NUDT5 AU NM_014142 exon2 c.3015-529T>A 0.522364 0.4425 0.507674 0.5203 0.4446 Uncertain 10_12227067_C->G 10 12227067 12227067 C G snp 1117.77 1/1 81 37 0 37 1.0 intronic rs2140660 NUDT5 AU NM_014142 exon8 c.17255+112C>G 0.999201 1 Uncertain 10_12228459_T->C 10 12228459 12228459 T C snp 430.77 0/1 99 26 12 14 0.54 intronic rs11257584 NUDT5 AU NM_014142 exon9 c.18631+128T>C 0.379193 0.3323 Uncertain 10_12292344_A->G 10 12292344 12292344 A G snp 2634.77 0/1 99 230 115 115 0.5 UTR3 rs10951 CDC123 AU 0.652556 0.6062 0.628325 0.6213 0.6315 Uncertain 10_12292348_G->T 10 12292348 12292348 G T snp 2643.77 0/1 99 228 115 113 0.5 UTR3 rs12590 CDC123 AU 0.136981 0.2083 0.150623 0.1835 0.2015 0.81 T 0.000 P Uncertain 10_12595037_G->C 10 12595037 12595037 G C snp 879.77 1/1 66 26 0 26 1.0 intronic rs2815629 CAMK1D AU NM_153498 exon2 c.203406-186G>C 0.967851 0.996 Uncertain 10_12695177_A->G 10 12695177 12695177 A G snp 382.77 0/1 99 37 19 18 0.49 ncRNA_exonic rs7896283 MIR4481 AU 0.384784 0.4335 0.4286 . Uncertain 10_12833004_A->- 10 12833004 12833004 A - indel 463.73 0/1 99 38 17 21 0.55 intronic rs10717134 CAMK1D AU NM_153498 exon6 c.441339-152delA 0.498602 0.6379 Uncertain 10_12855987_T->C 10 12855987 12855987 T C snp 192.77 0/1 54 8 2 6 0.75 intronic rs12247540 CAMK1D AU NM_153498 exon7 c.464376-206T>C 0.30611 0.4077 Uncertain 10_12858045_G->A 10 12858045 12858045 G A snp 201.77 0/1 99 24 14 10 0.42 intronic rs3818675 CAMK1D AU NM_153498 exon8 c.466431-203G>A 0.275958 0.4067 Uncertain 10_12858372_T->C 10 12858372 12858372 T C snp 527.77 0/1 99 52 31 21 0.4 intronic rs1644417 CAMK1D AU NM_153498 exon8 c.466510+45T>C 0.284345 0.4077 0.183531 0.1263 0.4251 Uncertain 10_12858409_A->G 10 12858409 12858409 A G snp 248.77 0/1 99 23 13 10 0.43 intronic rs1644418 CAMK1D AU NM_153498 exon8 c.466510+82A>G 0.282947 0.4107 Uncertain 10_12866356_A->C 10 12866356 12866356 A C snp 93.28 1/1 9 3 0 3 1.0 intronic rs2482023 CAMK1D AU NM_153498 exon9 c.474646-107A>C 0.834864 0.8562 Uncertain 10_12867598_C->G 10 12867598 12867598 C G snp 3648.77 1/1 99 139 0 139 1.0 exonic rs1757051 CAMK1D AU synonymous SNV NM_020397 exon10 c.C948G p.V316V 0.773962 0.8542 0.739966 0.7570 0.8426 Uncertain 10_12870714_A->G 10 12870714 12870714 A G snp 1179.77 1/1 84 47 0 47 1.0 intronic rs2482075 CAMK1D AU NM_153498 exon11 c.478950-53A>G 0.917732 0.9583 Uncertain 10_12940377_T->C 10 12940377 12940377 T C snp 525.77 1/1 39 15 0 15 1.0 UTR3 rs10752280 CCDC3 AU 0.960863 1 0.966865 0.9812 0.9998 Uncertain 10_12940455_A->G 10 12940455 12940455 A G snp 2097.77 1/1 99 72 0 72 1.0 exonic rs10906249 CCDC3 AU synonymous SNV NM_031455 exon3 c.T774C p.N258N 0.991414 1 0.991163 0.9979 1 Uncertain 10_13151224_G->A 10 13151224 13151224 G A snp 1062.77 0/1 99 88 42 46 0.52 exonic rs2234968 OPTN AU,AD synonymous SNV NM_021980 exon2 c.G102A p.T34T 0.178315 0.1925 0.201292 0.2385 0.1973 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000082082.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 ID=CM066944;DIS=Glaucoma, open angle, association with;TAG=DP;PUB=17122126 DP Uncertain 10_13151354_A->G 10 13151354 13151354 A G snp 231.77 0/1 99 23 12 11 0.48 intronic rs10906303 OPTN AU,AD NM_021980 exon2 c.166+66A>G 0.182907 0.1925 Uncertain 10_13152505_T->- 10 13152505 13152505 T - indel 274.73 0/1 99 31 6 25 0.81 intronic rs34617995 OPTN AU,AD NM_021980 exon3 c.1354+29delT 0.71266 0.7103 0.7567 0.6992 Uncertain 10_13152515_T->G 10 13152515 13152515 T G snp 415.77 0/1 99 18 6 12 0.67 intronic rs79529484 OPTN AU,AD NM_021980 exon3 c.1354+39T>G 0.231829 0.2907 0.2903 0.3173 Uncertain 10_13158262_C->T 10 13158262 13158262 C T snp 2628.77 1/1 99 92 0 92 1.0 splicing rs2244380 OPTN AU,AD NM_021980 exon5 c.7144-4C>T 0.803914 0.745 0.818930 0.8156 0.7315 ID=CS045331;DIS=Glaucoma 1, open angle, association with;TAG=DP;PUB=15312511 DP Pathogenic 10_13158364_G->A 10 13158364 13158364 G A snp 749.77 0/1 99 88 54 34 0.39 intronic rs11258211 OPTN AU,AD NM_021980 exon5 c.7218+24G>A 0.0593051 0.0804 0.031524 0.0253 0.0579 ID=CS034695;DIS=Glaucoma 1, open angle, association with;TAG=DP;PUB=12939304 DP Uncertain 10_13164596_A->G 10 13164596 13164596 A G snp 1042.77 1/1 75 38 0 38 1.0 intronic rs489040 OPTN AU,AD NM_021980 exon7 c.13365+109A>G 0.493211 0.4345 Uncertain 10_13166076_A->G 10 13166076 13166076 A G snp 2694.77 1/1 99 100 0 100 1.0 exonic rs523747 OPTN AU,AD nonsynonymous SNV NM_021980 exon8 c.A964G p.K322E 0.993411 1 0.990620 0.9973 1 1 T 0.000 P -0.929 T 0.0 T 0.0 T ID=CM095002;DIS=Glaucoma 1, open angle;TAG=DM;PUB=19710941 DM Pathogenic 10_13167860_G->T 10 13167860 13167860 G T snp 915.77 1/1 66 34 0 34 1.0 intronic rs676302 OPTN AU,AD NM_021980 exon10 c.16823-85G>T 0.807708 0.7431 Uncertain 10_13174269_G->A 10 13174269 13174269 G A snp 282.77 0/1 99 22 10 12 0.55 intronic rs77873111 OPTN AU,AD NM_021980 exon12 c.23075+72G>A 0.0247604 0.0367 Uncertain 10_13175682_A->C 10 13175682 13175682 A C snp 128.03 1/1 12 6 0 6 1.0 intronic rs7086894 OPTN AU,AD NM_021980 exon13 c.24459+101A>C 0.334864 0.3393 Uncertain 10_13178697_C->A 10 13178697 13178697 C A snp 2640.77 1/1 99 92 0 92 1.0 intronic rs10906310 OPTN AU,AD NM_021980 exon14 c.27622-47C>A 0.284545 0.3353 0.243811 0.2649 0.3387 Uncertain 10_13206233_A->T 10 13206233 13206233 A T snp 2687.77 0/1 99 233 117 116 0.5 intronic rs7090944 MCM10 AU NM_018518 exon2 c.7+24A>T 0.796925 0.869 0.748270 0.7979 0.8970 Uncertain 10_13212884_C->T 10 13212884 13212884 C T snp 1398.77 0/1 99 140 82 58 0.41 intronic rs2147279 MCM10 AU NM_018518 exon3 c.6719-37C>T 0.701877 0.5813 0.804538 0.7440 0.5679 Uncertain 10_13214812_A->G 10 13214812 13214812 A G snp 32.77 0/1 61 8 6 2 0.25 intronic rs6602637 MCM10 AU NM_018518 exon5 c.8563+47A>G 0.714856 0.5794 0.806089 0.7533 0.5696 Uncertain 10_13224886_G->T 10 13224886 13224886 G T snp 440.77 0/1 99 34 17 17 0.5 intronic rs3765520 MCM10 AU NM_018518 exon8 c.18730-46G>T 0.289337 0.4018 0.288790 0.3052 0.3929 Uncertain 10_13225119_G->A 10 13225119 13225119 G A snp 906.77 0/1 99 89 52 37 0.42 intronic rs11258235 MCM10 AU NM_018518 exon8 c.18898+19G>A 0.280751 0.4018 0.281101 0.3000 0.3869 Uncertain 10_13233471_C->T 10 13233471 13233471 C T snp 386.77 0/1 99 22 9 13 0.59 intronic rs7916762 MCM10 AU NM_018518 exon11 c.27197+72C>T 0.281949 0.4077 Uncertain 10_13237015_G->A 10 13237015 13237015 G A snp 1468.77 0/1 99 122 65 57 0.47 intronic rs10796036 MCM10 AU NM_018518 exon14 c.30838-25G>A 0.807109 0.7877 0.842919 0.8485 0.7618 Uncertain 10_13264280_C->A 10 13264280 13264280 C A snp 555.77 0/1 99 41 21 20 0.49 intronic rs2281797 UCMA AU NM_001303118 exon1 c.98+80C>A 0.392772 0.6111 Uncertain 10_13271834_G->A 10 13271834 13271834 G A snp 286.77 0/1 99 15 6 9 0.6 intronic rs4750320 UCMA AU NM_001303118 exon2 c.7607+125G>A 0.492013 0.6637 Uncertain 10_13275510_C->G 10 13275510 13275510 C G snp 1698.77 1/1 99 57 0 57 1.0 intronic rs7893239 UCMA AU NM_145314 exon3 c.11435-27C>G 0.344649 0.3383 0.309703 0.3323 0.3195 Uncertain 10_13275514_A->G 10 13275514 13275514 A G snp 1730.77 1/1 99 59 0 59 1.0 intronic rs4750327 UCMA AU NM_145314 exon3 c.11435-23A>G 0.98123 1 0.987467 0.9947 1 Uncertain 10_13275553_T->G 10 13275553 13275553 T G snp 2766.77 1/1 99 105 0 105 1.0 exonic rs3829925 UCMA AU synonymous SNV NM_145314 exon3 c.A205C p.R69R 0.803714 0.8393 0.864524 0.8711 0.8193 Uncertain 10_13275643_G->A 10 13275643 13275643 G A snp 4374.77 1/1 99 159 1 158 0.99 intronic rs4750328 UCMA AU NM_145314 exon3 c.11531+10G>A 0.167133 0.121 0.173382 0.1903 0.1083 Uncertain 10_13275676_T->C 10 13275676 13275676 T C snp 4158.77 1/1 99 151 0 151 1.0 intronic rs3829926 UCMA AU NM_145314 exon3 c.11531+43T>C 0.535144 0.5357 0.615946 0.6268 0.5257 Uncertain 10_13276179_A->G 10 13276179 13276179 A G snp 1426.77 1/1 99 57 0 57 1.0 intronic rs942418 UCMA AU NM_001303118 exon4 c.12098-21A>G 0.964856 1 0.969860 0.9869 1 Uncertain 10_13276368_G->A 10 13276368 13276368 G A snp 102.77 0/1 99 10 6 4 0.4 upstream rs2399954 UCMA AU 0.0864617 0.1121 Uncertain 10_13320236_C->T 10 13320236 13320236 C T snp 358.77 0/1 99 28 14 14 0.5 UTR3 rs11133 PHYH AR 0.236422 0.2024 0.286246 Uncertain 10_13320411_A->T 10 13320411 13320411 A T snp 2430.77 1/1 99 89 0 89 1.0 intronic rs825625 PHYH AR NM_006214 exon1 c.54+57A>T 0.951877 1 0.955103 Uncertain 10_13325946_C->T 10 13325946 13325946 C T snp 640.77 1/1 48 24 0 24 1.0 intronic rs648173 PHYH AR NM_006214 exon3 c.5539+107C>T 0.621605 0.5278 Uncertain 10_13330291_G->T 10 13330291 13330291 G T snp 137.03 1/1 12 5 0 5 1.0 intronic rs7900830 PHYH AR NM_006214 exon4 c.10059-68G>T 0.3123 0.3115 Uncertain 10_13334058_A->G 10 13334058 13334058 A G snp 182.9 1/1 15 6 0 6 1.0 intronic rs1408364 PHYH AR NM_006214 exon5 c.13612+146A>G 0.961262 1 Uncertain 10_13337319_A->C 10 13337319 13337319 A C snp 130.03 1/1 12 4 0 4 1.0 intronic rs654536 PHYH AR NM_006214 exon7 c.17195-176A>C 0.722045 0.877 Uncertain 10_13337330_T->C 10 13337330 13337330 T C snp 178.9 1/1 15 5 0 5 1.0 intronic rs654553 PHYH AR NM_006214 exon7 c.17195-165T>C 0.722045 0.877 Uncertain 10_13337588_G->A 10 13337588 13337588 G A snp 1607.77 1/1 99 56 0 56 1.0 exonic rs1747682 PHYH AR synonymous SNV NM_006214 exon3 c.C153T p.N51N 0.972444 1 0.965928 0.9908 1 Uncertain 10_13340293_A->G 10 13340293 13340293 A G snp 644.77 1/1 48 27 0 27 1.0 intronic rs7916926 PHYH AR NM_006214 exon8 c.19945+48A>G 0.407149 0.6786 0.328949 0.4539 0.6968 Uncertain 10_13340339_G->A 10 13340339 13340339 G A snp 314.78 1/1 24 10 0 10 1.0 intronic rs10796054 PHYH AR NM_006214 exon8 c.19945+94G>A 0.400759 0.6796 Uncertain 10_13340375_T->G 10 13340375 13340375 T G snp 99.28 1/1 9 3 0 3 1.0 intronic rs10906342 PHYH AR NM_006214 exon8 c.19945+130T>G 0.407348 0.6796 Uncertain 10_13341836_G->C 10 13341836 13341836 G C snp 99.28 1/1 9 4 0 4 1.0 intronic rs511959 PHYH AR NM_001037537 exon8 c.21446+90G>C 0.935703 0.9018 Uncertain 10_13341900_A->G 10 13341900 13341900 A G snp 580.77 1/1 42 22 0 22 1.0 intronic rs512109 PHYH AR NM_006214 exon9 c.21667-67A>G 0.935903 0.9018 Uncertain 10_13361421_C->T 10 13361421 13361421 C T snp 2250.77 1/1 99 80 0 80 1.0 intronic rs10906347 SEPHS1 AU NM_001195602 exon1 c.215+65C>T 0.401558 0.6419 Uncertain 10_13364144_T->- 10 13364144 13364144 T - indel 255.94 0/1 13 34 4 30 0.88 intronic rs149378948 SEPHS1 AU NM_001195602 exon2 c.3693-690delT Uncertain 10_13370315_C->T 10 13370315 13370315 C T snp 554.77 1/1 42 16 0 16 1.0 intronic rs3740211 SEPHS1 AU NM_001195602 exon3 c.9209-35C>T 0.500599 0.7629 0.405505 0.5343 0.7979 Uncertain 10_13375906_T->C 10 13375906 13375906 T C snp 2420.77 1/1 99 91 0 91 1.0 exonic rs10752297 SEPHS1 AU synonymous SNV NM_001195602 exon4 c.A270G p.T90T 0.677915 0.7609 0.622097 0.6328 0.7977 Uncertain 10_13378181_C->G 10 13378181 13378181 C G snp 170.9 1/1 15 5 0 5 1.0 intronic rs2275129 SEPHS1 AU NM_001195602 exon6 c.17101-61C>G 0.452276 0.6835 Uncertain 10_13378445_A->G 10 13378445 13378445 A G snp 4695.77 1/1 99 169 0 169 1.0 intronic rs2275128 SEPHS1 AU NM_001195602 exon6 c.17209+95A>G 0.683706 0.7619 0.6462 0.7913 Uncertain 10_13481427_T->A 10 13481427 13481427 T A snp 3033.77 0/1 99 246 121 125 0.51 exonic rs12415754 BEND7 AU synonymous SNV NM_152751 exon9 c.A1152T p.S384S 0.333067 0.6667 0.249423 0.3728 0.7069 Uncertain 10_13481530_T->C 10 13481530 13481530 T C snp 1070.77 0/1 99 68 29 39 0.57 intronic rs12573063 BEND7 AU NM_152751 exon1 c.326+33T>C 0.0976438 0.0923 0.082423 0.0935 0.0939 Uncertain 10_13489201_-->T 10 13489201 13489201 - T indel 2913.73 0/1 99 164 81 83 0.51 intronic rs11408564 BEND7 AU NM_001100912 exon2 c.5523-64insT 0.39976 0.2054 0.380192 Uncertain 10_13494594_T->C 10 13494594 13494594 T C snp 1866.77 0/1 99 168 88 80 0.48 exonic rs2277222 BEND7 AU synonymous SNV NM_001100912 exon6 c.A1011G p.V337V 0.35643 0.6696 0.271106 0.3730 0.7084 Uncertain 10_13534554_T->C 10 13534554 13534554 T C snp 620.77 0/1 99 44 17 27 0.61 intronic rs2251467 BEND7 AU NM_001100912 exon5 c.50868-56T>C 0.220847 0.2232 Uncertain 10_13534851_A->G 10 13534851 13534851 A G snp 1073.77 0/1 99 106 61 45 0.42 exonic rs2251555 BEND7 AU synonymous SNV NM_001100912 exon4 c.T480C p.P160P 0.480631 0.3403 0.553291 0.5271 0.3019 Uncertain 10_13541724_-->AAAAC 10 13541724 13541724 - AAAAC indel 1075.73 0/1 99 41 26 15 0.37 intronic rs113234105 BEND7 AU NM_001100912 exon7 c.57996-14insAAAAC 0.48123 0.3403 0.548650 0.5265 0.3005 Uncertain 10_13567927_A->C 10 13567927 13567927 A C snp 254.8 1/1 21 8 0 8 1.0 intergenic rs4750375 BEND7 AU 0.553914 0.8651 Uncertain 10_13570570_GCGGCAGCGGCGGCA->- 10 13570570 13570584 GCGGCAGCGGCGGCA - indel 1839.73 1/1 33 15 0 15 1.0 intergenic rs756493230 BEND7 AU 0.2054 0 Uncertain 10_13570673_A->G 10 13570673 13570673 A G snp 86.28 1/1 9 3 0 3 1.0 intergenic rs10906401 BEND7 AU Uncertain 10_13633835_A->G 10 13633835 13633835 A G snp 1807.77 1/1 99 68 0 68 1.0 intronic rs10906419 PRPF18 AU NM_003675 exon1 c.66+4683A>G 0.425519 0.8135 0.311999 0.4043 0.8309 Uncertain 10_13653490_C->A 10 13653490 13653490 C A snp 342.77 0/1 88 14 3 11 0.79 intronic rs2478121 PRPF18 AU NM_003675 exon6 c.24528-124C>A 0.720647 0.8145 Uncertain 10_13653554_A->G 10 13653554 13653554 A G snp 1283.77 0/1 99 83 31 52 0.63 intronic rs3763788 PRPF18 AU NM_003675 exon6 c.24528-60A>G 0.0497204 0.2331 0.000657 Uncertain 10_13653733_A->T 10 13653733 13653733 A T snp 1513.77 0/1 99 133 63 70 0.53 intronic rs11258471 PRPF18 AU NM_003675 exon6 c.24597+50A>T 0.0545128 0.1042 0.016146 0.0265 0.0997 Uncertain 10_13658335_G->A 10 13658335 13658335 G A snp 1636.77 0/1 99 162 97 65 0.4 intronic rs2253308 PRPF18 AU NM_003675 exon9 c.29311-62G>A 0.717252 0.8036 Uncertain 10_13693883_C->T 10 13693883 13693883 C T snp 2722.77 0/1 99 227 111 116 0.51 intronic rs11258499 FRMD4A AR 0.320487 0.7173 0.253345 0.3447 0.7285 Uncertain 10_13705298_G->T 10 13705298 13705298 G T snp 263.77 0/1 99 21 10 11 0.52 intronic rs10796108 FRMD4A AR NM_018027 exon7 c.11548-154G>T 0.796526 0.8274 Uncertain 10_13705308_CT->- 10 13705308 13705309 CT - indel 527.73 0/1 99 27 15 12 0.44 intronic rs55876188 FRMD4A AR NM_018027 exon7 c.11548-144_11548-143delCT 0.778754 0.8502 Uncertain 10_13705676_C->T 10 13705676 13705676 C T snp 134.77 0/1 99 10 5 5 0.5 intronic rs2274353 FRMD4A AR NM_018027 exon7 c.11605+167C>T 0.786342 0.8502 Uncertain 10_13705681_T->C 10 13705681 13705681 T C snp 107.77 0/1 99 7 3 4 0.57 intronic rs2274354 FRMD4A AR NM_018027 exon7 c.11605+172T>C 0.781949 0.8502 Uncertain 10_13735587_G->A 10 13735587 13735587 G A snp 101.77 0/1 99 13 9 4 0.31 intronic rs737376 FRMD4A AR NM_018027 exon11 c.41993-310G>A 0.324281 0.4117 Uncertain 10_13735603_G->C 10 13735603 13735603 G C snp 718.77 1/1 54 18 0 18 1.0 intronic rs943090 FRMD4A AR NM_018027 exon11 c.41993-294G>C 0.772564 0.8373 Uncertain 10_13743251_A->T 10 13743251 13743251 A T snp 445.77 0/1 99 22 9 13 0.59 intronic rs2296598 FRMD4A AR NM_018027 exon12 c.49435-88A>T 0.188299 0.2599 Uncertain 10_13743646_G->C 10 13743646 13743646 G C snp 210.84 1/1 18 7 0 7 1.0 intronic rs1541005 FRMD4A AR NM_018027 exon12 c.49574+168G>C 0.963858 1 Uncertain 10_13749228_G->A 10 13749228 13749228 G A snp 261.77 0/1 99 20 10 10 0.5 intronic rs11258541 FRMD4A AR NM_018027 exon13 c.55209+115G>A 0.357628 0.496 Uncertain 10_13780071_T->C 10 13780071 13780071 T C snp 218.84 1/1 18 6 0 6 1.0 intronic rs10906458 FRMD4A AR NM_018027 exon14 c.86026+141T>C 0.574281 0.3125 Uncertain 10_13782110_A->C 10 13782110 13782110 A C snp 2626.77 1/1 99 84 0 84 1.0 intronic rs11258567 FRMD4A AR NM_018027 exon15 c.88289-83A>C 0.519569 0.6905 Uncertain 10_13782124_A->G 10 13782124 13782124 A G snp 3340.77 1/1 99 109 0 109 1.0 intronic rs10906462 FRMD4A AR NM_018027 exon15 c.88289-69A>G 0.80012 0.8889 0.874069 Uncertain 10_13782605_G->A 10 13782605 13782605 G A snp 3689.77 1/1 99 147 0 147 1.0 intronic rs6602679 FRMD4A AR NM_018027 exon16 c.88673+28G>A 0.771965 0.9573 0.650392 0.6745 0.9463 Uncertain 10_13782827_G->T 10 13782827 13782827 G T snp 124.03 1/1 12 4 0 4 1.0 intronic rs7923282 FRMD4A AR NM_018027 exon16 c.88673+250G>T Uncertain 10_13838329_G->A 10 13838329 13838329 G A snp 149.77 0/1 99 12 7 5 0.42 intronic rs3740123 FRMD4A AR NM_018027 exon21 c.144591-166G>A 0.327875 0.4296 Uncertain 10_13838340_T->G 10 13838340 13838340 T G snp 218.77 0/1 99 18 10 8 0.44 intronic rs3740122 FRMD4A AR NM_018027 exon21 c.144591-155T>G 0.331669 0.4345 Uncertain 10_13838604_A->G 10 13838604 13838604 A G snp 1154.77 0/1 99 136 77 59 0.43 intronic rs3740121 FRMD4A AR NM_018027 exon21 c.144684+16A>G 0.395767 0.4653 0.418960 0.5034 0.4738 Uncertain 10_14371985_A->G 10 14371985 14371985 A G snp 929.77 0/1 99 52 17 35 0.67 intronic rs72780860 FRMD4A AR NM_018027 exon24 c.678152-71A>G 0.0251597 0.0635 Uncertain 10_14372306_-->A 10 14372306 14372306 - A indel 72.73 0/1 75 22 5 17 0.77 intronic rs35432616 FRMD4A AR NM_018027 exon24 c.678278+124insA 0.38119 0.4206 Uncertain 10_14563097_A->G 10 14563097 14563097 A G snp 681.77 1/1 51 17 0 17 1.0 UTR3 rs3780915 FAM107B AU 0.788938 0.881 Uncertain 10_14572644_G->A 10 14572644 14572644 G A snp 161.77 0/1 99 23 16 7 0.3 intronic rs7922221 FAM107B AU NM_001282696 exon3 c.9326+130G>A 0.741813 0.5774 Uncertain 10_14709658_G->A 10 14709658 14709658 G A snp 2601.77 0/1 99 201 88 113 0.56 exonic rs149371316 FAM107B AU synonymous SNV NM_031453 exon2 c.C444T p.L148L 0.019369 0.0595 0.000769 0.0086 0.0543 Uncertain 10_14816448_G->A 10 14816448 14816448 G A snp 3201.82 0/1 99 250 111 139 0.56 exonic rs11259332 FAM107B AU nonsynonymous SNV NM_031453 exon1 c.C215T p.A72V 0.0694888 0.248 0.003306 0.0313 0.2552 0.11 T 0.0 P -1.042 T 0.01 T 0.02 T Pathogenic 10_14882061_T->- 10 14882061 14882061 T - indel 101.86 1/1 2 7 1 6 0.86 intronic rs3830599 HSPA14 AU NM_001278205 exon3 c.1672-12delT 0.4618 0.5146 Uncertain 10_14891406_G->A 10 14891406 14891406 G A snp 334.77 0/1 99 59 39 20 0.34 intronic rs17155992 HSPA14 AU NM_016299 exon6 c.11318-313G>A 0.107628 0.0506 0.1567 0.0531 Uncertain 10_14891524_A->G 10 14891524 14891524 A G snp 719.77 0/1 99 111 72 39 0.35 intronic rs45606139 HSPA14 AU NM_016299 exon6 c.11318-195A>G 0.104233 0.0506 Uncertain 10_14909555_G->T 10 14909555 14909555 G T snp 139.03 1/1 12 5 0 5 1.0 intronic rs10906773 HSPA14 AU NM_016299 exon12 c.29333-179G>T 0.471446 0.3819 Uncertain 10_14941055_T->G 10 14941055 14941055 T G snp 56.74 1/1 6 2 0 2 1.0 intronic rs7896464 SUV39H2 AU NM_024670 exon3 c.2690-482T>G 0.476238 0.4127 Uncertain 10_14941233_C->T 10 14941233 14941233 C T snp 399.77 0/1 99 35 14 21 0.6 intronic rs60006238 SUV39H2 AU NM_024670 exon3 c.2690-304C>T 0.103035 0.0526 0.1941 0.0368 0.4 T 0.0 P -1.061 T 0.665 T 0.022 P Uncertain 10_14976414_G->A 10 14976414 14976414 G A snp 3983.77 1/1 99 146 0 146 1.0 exonic rs7076862 DCLRE1C AR synonymous SNV NM_001033855 exon8 c.C643T p.L215L 0.5 0.3929 0.449716 0.4187 0.4140 CLINSIG=non-pathogenic;CLNDBN=Severe_combined_immunodeficiency_disease;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000029658.1;CLNDSDB=MedGen:SNOMED_CT;CLNDSDBID=C0085110:31323000 Uncertain 10_15008493_A->C 10 15008493 15008493 A C snp 860.77 0/1 99 72 35 37 0.51 exonic rs4750568 MEIG1 AU nonsynonymous SNV NM_001080836 exon2 c.A26C p.K9T 0.611222 0.4802 0.653160 0.6597 0.4769 0.3 T 1.000 P -0.971 T 0.99 D 0.709 D Pathogenic 10_15014369_C->A 10 15014369 15014369 C A snp 483.77 0/1 99 30 14 16 0.53 intronic rs1935401 MEIG1 AU NM_001080836 exon3 c.6044-142C>A 0.63758 0.4752 Uncertain 10_15014418_C->G 10 15014418 15014418 C G snp 1604.77 0/1 99 101 46 55 0.54 intronic rs1935400 MEIG1 AU NM_001080836 exon3 c.6044-93C>G 0.63758 0.4752 Uncertain 10_15014440_A->G 10 15014440 15014440 A G snp 2236.77 0/1 99 146 62 84 0.58 intronic rs1935399 MEIG1 AU NM_001080836 exon3 c.6044-71A>G 0.639577 0.4752 Uncertain 10_15014698_C->T 10 15014698 15014698 C T snp 566.77 0/1 99 27 10 17 0.63 UTR3 rs4418687 MEIG1 AU 0.63738 0.4752 Uncertain 10_15014702_A->G 10 15014702 15014702 A G snp 515.77 0/1 99 26 10 16 0.62 UTR3 rs4295952 MEIG1 AU 0.63738 0.4752 Uncertain 10_15057374_G->A 10 15057374 15057374 G A snp 3503.77 1/1 99 140 0 140 1.0 intergenic rs2007712 MEIG1 AU 0.13738 0.1538 0.1364 0.1780 Uncertain 10_15059434_C->T 10 15059434 15059434 C T snp 170.9 1/1 15 5 0 5 1.0 intergenic rs56023451 MEIG1 AU 0.13738 0.1548 Uncertain 10_15106281_C->G 10 15106281 15106281 C G snp 1138.77 1/1 84 38 0 38 1.0 intronic rs7075914 OLAH AU NM_018324 exon6 c.17114-120C>G 0.151358 0.3522 Uncertain 10_15106379_A->G 10 15106379 15106379 A G snp 3001.77 1/1 99 109 0 109 1.0 intronic rs10796255 OLAH AU NM_018324 exon6 c.17114-22A>G 0.151757 0.3532 0.090881 0.1444 0.3165 Uncertain 10_15106649_G->A 10 15106649 15106649 G A snp 379.77 1/1 30 12 0 12 1.0 intronic rs11259456 OLAH AU NM_018324 exon6 c.17214+148G>A 0.156949 0.3512 Uncertain 10_15120865_G->A 10 15120865 15120865 G A snp 185.9 1/1 15 6 0 6 1.0 intronic rs7092227 ACBD7 AU NM_001039844 exon3 c.393-56G>A 0.144569 0.3204 Uncertain 10_15154974_A->G 10 15154974 15154974 A G snp 2795.77 1/1 99 108 0 108 1.0 intronic rs7072269 NMT2 AU NM_004808 exon3 c.3769+12A>G 0.973642 1 0.938029 0.9460 0.9999 Uncertain 10_15296572_A->T 10 15296572 15296572 A T snp 827.77 1/1 63 23 0 23 1.0 intronic rs3824620 FAM171A1 AU NM_001010924 exon5 c.41806-147A>T 0.957468 0.9732 Uncertain 10_15413071_G->A 10 15413071 15413071 G A snp 273.77 0/1 99 32 18 14 0.44 upstream rs192904368 FAM171A1 AU 0.588658 0.7639 0.695576 0.6733 0.7593 Uncertain 10_15573050_A->G 10 15573050 15573050 A G snp 2415.77 1/1 99 95 0 95 1.0 exonic rs1041135 ITGA8 AR nonsynonymous SNV NM_003638 exon28 c.T2981C p.V994A 0.913938 0.7579 0.963786 0.9724 0.7851 0.73 T 0.0 P -0.958 T 0.0 T 0.0 T Pathogenic 10_15590372_G->T 10 15590372 15590372 G T snp 269.8 1/1 21 9 0 9 1.0 intronic rs9333229 ITGA8 AR NM_003638 exon4 c.31297-81G>T 0.907947 0.7599 Uncertain 10_15646458_A->- 10 15646458 15646458 A - indel 114.73 0/1 78 9 3 6 0.67 intronic rs3216027 ITGA8 AR NM_003638 exon11 c.87198+104delA 0.20008 0.2282 Uncertain 10_15648104_G->A 10 15648104 15648104 G A snp 213.77 0/1 99 15 7 8 0.53 intronic rs2282384 ITGA8 AR NM_003638 exon13 c.89127-179G>A 0.141174 0.2163 Uncertain 10_15648243_C->T 10 15648243 15648243 C T snp 4346.77 1/1 99 164 0 164 1.0 intronic rs2282383 ITGA8 AR NM_003638 exon13 c.89127-40C>T 0.725439 0.7659 0.730201 0.7501 0.7408 Uncertain 10_15650402_AC->- 10 15650402 15650403 AC - indel 419.73 1/1 33 12 0 12 1.0 intronic rs3041592 ITGA8 AR NM_003638 exon15 c.91133+113_91133+114delAC Uncertain 10_15685983_A->T 10 15685983 15685983 A T snp 2135.77 1/1 99 75 0 75 1.0 intronic rs4748191 ITGA8 AR NM_003638 exon18 c.126872-45A>T 0.891973 0.9504 0.913796 0.9677 0.9411 Uncertain 10_15700803_A->G 10 15700803 15700803 A G snp 48.74 1/1 6 2 0 2 1.0 intronic rs7097592 ITGA8 AR NM_003638 exon21 c.141841-194A>G 0.922125 0.9474 Uncertain 10_15700827_A->G 10 15700827 15700827 A G snp 135.03 1/1 12 4 0 4 1.0 intronic rs7097720 ITGA8 AR NM_003638 exon21 c.141841-170A>G 0.903155 0.9474 Uncertain 10_15701093_A->G 10 15701093 15701093 A G snp 883.77 0/1 99 66 28 38 0.58 intronic rs9333128 ITGA8 AR NM_003638 exon21 c.141898+39A>G 0.129393 0.3115 0.092168 0.1231 0.3007 Uncertain 10_15702992_C->A 10 15702992 15702992 C A snp 1639.77 0/1 99 133 65 68 0.51 intronic rs9333114 ITGA8 AR NM_003638 exon22 c.143765+71C>A 0.116813 0.3115 0.061104 Uncertain 10_15703101_G->A 10 15703101 15703101 G A snp 348.77 0/1 99 27 14 13 0.48 intronic rs9333112 ITGA8 AR NM_003638 exon22 c.143765+180G>A 0.128594 0.3115 Uncertain 10_15713507_A->G 10 15713507 15713507 A G snp 1083.77 0/1 99 82 35 47 0.57 intronic rs7100228 ITGA8 AR NM_003638 exon23 c.154445-94A>G 0.514976 0.4196 Uncertain 10_15713541_T->C 10 15713541 15713541 T C snp 3411.77 1/1 99 127 0 127 1.0 intronic rs6602051 ITGA8 AR NM_003638 exon23 c.154445-60T>C 0.655351 0.7143 0.646518 Uncertain 10_15713667_C->G 10 15713667 15713667 C G snp 3270.77 1/1 99 123 0 123 1.0 intronic rs7100510 ITGA8 AR NM_003638 exon23 c.154490+21C>G 0.63738 0.7431 0.611333 0.6637 0.7070 Uncertain 10_15729923_C->T 10 15729923 15729923 C T snp 5754.77 1/1 99 220 0 220 1.0 intronic rs1954181 ITGA8 AR NM_003638 exon28 c.170780-13C>T 0.758986 0.7877 0.770567 0.8353 0.7726 Uncertain 10_15761527_T->C 10 15761527 15761527 T C snp 2630.77 1/1 99 94 0 94 1.0 intronic rs9333070 ITGA8 AR NM_003638 exon30 c.202405-34T>C 0.700479 0.8492 0.657012 0.7032 0.8455 Uncertain 10_15902303_A->G 10 15902303 15902303 A G snp 1755.77 0/1 99 168 90 78 0.46 UTR5 rs2297882 FAM188A AU 0.310104 0.1687 0.327849 0.3531 0.2352 ID=CR116396;DIS=Non-small-cell lung cancer, increased risk, association with;TAG=DFP;PUB=21499297 DFP Uncertain 10_16526840_G->A 10 16526840 16526840 G A snp 355.77 0/1 99 32 20 12 0.38 intronic rs2275731 PTER AU NM_030664 exon3 c.432+25G>A 0.421526 0.4524 0.382421 0.3918 0.4525 Uncertain 10_16547058_A->G 10 16547058 16547058 A G snp 5719.77 1/1 99 208 0 208 1.0 exonic rs7904014 PTER AU synonymous SNV NM_001261838 exon3 c.A291G p.Q97Q 0.65635 0.8264 0.508458 0.5558 0.8419 Uncertain 10_16556710_T->C 10 16556710 16556710 T C snp 6411.77 1/1 99 226 0 226 1.0 splicing rs7909832 C1QL3 AU NM_001010908 exon1 c.180+4T>C 0.589058 0.5188 0.596355 0.5623 0.5287 Pathogenic 10_16562600_G->A 10 16562600 16562600 G A snp 2563.77 0/1 99 250 140 110 0.44 exonic rs72772306 C1QL3 AU synonymous SNV NM_001010908 exon1 c.C465T p.H155H 0.130192 0.1022 0.154698 0.1111 0.1159 Uncertain 10_16737156_-->G 10 16737156 16737156 - G indel 463.73 0/1 99 95 44 51 0.54 splicing rs373104238 RSU1 AU NM_012425 exon2 c.101762+2insG 0.0776 0.1405 Pathogenic 10_16737165_G->A 10 16737165 16737165 G A snp 774.77 0/1 99 86 45 41 0.48 intronic rs199804853 RSU1 AU NM_012425 exon2 c.101762+11G>A 0.23123 0.3274 0.0247 0.0806 Uncertain 10_16737166_G->A 10 16737166 16737166 G A snp 818.77 0/1 99 85 46 39 0.46 intronic rs3837313 RSU1 AU NM_012425 exon2 c.101762+12G>A 0.451677 0.4762 0.3778 0.3987 Uncertain 10_16737167_A->G 10 16737167 16737167 A G snp 632.77 0/1 99 85 52 33 0.39 intronic rs45561438 RSU1 AU NM_012425 exon2 c.101762+13A>G 0.306709 0.4246 0.2015 0.3243 Uncertain 10_16769131_G->A 10 16769131 16769131 G A snp 656.77 0/1 99 68 36 32 0.47 intronic rs181388054 RSU1 AU NM_012425 exon3 c.159145-25406G>A 0.000798722 0.004 Uncertain 10_16796919_C->A 10 16796919 16796919 C A snp 1360.77 0/1 99 86 32 54 0.63 exonic rs1049632 RSU1 AU synonymous SNV NM_152724 exon4 c.G192T p.T64T 0.417332 0.4028 0.386745 0.2943 0.4155 Uncertain 10_16797033_A->G 10 16797033 16797033 A G snp 86.77 0/1 30 4 1 3 0.75 intronic rs7910261 RSU1 AU NM_012425 exon5 c.161596+45A>G 0.469848 0.4048 0.432108 0.3134 0.4182 Uncertain 10_16866840_C->T 10 16866840 16866840 C T snp 298.77 0/1 99 23 10 13 0.57 UTR3 rs780636 CUBN AR 0.158546 0.3056 Uncertain 10_16876922_A->G 10 16876922 16876922 A G snp 311.78 1/1 24 9 0 9 1.0 intronic rs703060 CUBN AR NM_001081 exon4 c.10039-90A>G 0.669928 0.7252 Uncertain 10_16878204_T->C 10 16878204 16878204 T C snp 845.77 0/1 99 63 32 31 0.49 intronic rs703062 CUBN AR NM_001081 exon5 c.11260-29T>C 0.663538 0.4871 0.763878 0.7390 0.4937 Uncertain 10_16878375_C->T 10 16878375 16878375 C T snp 1143.77 0/1 99 110 57 53 0.48 exonic rs146027947 CUBN AR nonsynonymous SNV NM_001081 exon63 c.G10039A p.G3347R 0.0153754 0.0397 0.007227 0.0052 0.0409 0.48 T 1 N -1.011 T 0.099 T 0.018 T Pathogenic 10_16882518_T->C 10 16882518 16882518 T C snp 481.77 0/1 99 36 16 20 0.56 exonic rs703064 CUBN AR synonymous SNV NM_001081 exon62 c.A9843G p.T3281T 0.635982 0.4772 0.714824 0.7170 0.5401 Uncertain 10_16911567_C->T 10 16911567 16911567 C T snp 98.03 1/1 12 8 0 8 1.0 intronic rs703074 CUBN AR NM_001081 exon9 c.44661-67C>T Uncertain 10_16911605_C->A 10 16911605 16911605 C A snp 802.77 1/1 60 26 0 26 1.0 intronic rs703075 CUBN AR NM_001081 exon9 c.44661-29C>A 0.512979 0.3909 0.486237 0.3954 0.3943 Uncertain 10_16916608_TAA->- 10 16916608 16916610 TAA - indel 1219.73 0/1 99 51 16 35 0.69 intronic rs370506162 CUBN AR NM_001081 exon10 c.49529+106_49529+108delTAA 0.167532 0.3046 Uncertain 10_16918972_A->G 10 16918972 16918972 A G snp 1851.77 0/1 99 193 106 87 0.45 exonic rs1801241 CUBN AR synonymous SNV NM_001081 exon57 c.T9030C p.A3010A 0.247404 0.3065 0.148777 0.1528 0.3008 Uncertain 10_16943371_G->C 10 16943371 16943371 G C snp 5486.77 1/1 99 196 1 195 0.99 exonic rs2796835 CUBN AR nonsynonymous SNV NM_001081 exon52 c.C8150G p.S2717W 1 1 0.999923 1.0000 1 1 T 1.0 P -0.903 T 0.0 T 0.0 T Pathogenic 10_16948177_A->G 10 16948177 16948177 A G snp 844.77 0/1 99 65 31 34 0.52 intronic rs780807 CUBN AR NM_001081 exon18 c.81228-24A>G 0.751997 0.8165 0.775719 0.7781 0.8181 Uncertain 10_16949447_A->C 10 16949447 16949447 A C snp 805.77 0/1 99 59 25 34 0.58 intronic rs780804 CUBN AR NM_001081 exon19 c.82533-59A>C 0.694089 0.8145 Uncertain 10_16949550_T->C 10 16949550 16949550 T C snp 849.77 0/1 99 61 25 36 0.59 exonic rs3740165 CUBN AR synonymous SNV NM_001081 exon49 c.A7662G p.P2554P 0.10643 0.1508 0.081732 0.0580 0.1371 Uncertain 10_16967325_C->T 10 16967325 16967325 C T snp 2258.77 0/1 99 188 90 98 0.52 exonic rs11254278 CUBN AR synonymous SNV NM_001081 exon43 c.G6561A p.S2187S 0.0309505 0.1071 0.006766 0.0169 0.0983 Uncertain 10_16967401_C->T 10 16967401 16967401 C T snp 3764.77 1/1 99 139 0 139 1.0 exonic rs1276712 CUBN AR nonsynonymous SNV NM_001081 exon43 c.G6485A p.C2162Y 0.993411 0.999 0.999616 0.9958 0.9994 1 T 0.0 P -0.930 T 0.0 T 0.0 T Pathogenic 10_16967445_T->G 10 16967445 16967445 T G snp 2578.77 1/1 99 90 0 90 1.0 intronic rs1276713 CUBN AR NM_001081 exon25 c.100450+22T>G 0.88778 0.9841 0.832129 0.8355 0.9876 Uncertain 10_16975078_G->A 10 16975078 16975078 G A snp 979.77 0/1 99 67 30 37 0.55 intronic rs2271461 CUBN AR NM_001081 exon28 c.108112-7G>A 0.196885 0.3194 0.171382 0.2065 0.3086 Uncertain 10_16979566_G->T 10 16979566 16979566 G T snp 291.77 0/1 99 23 13 10 0.43 intronic rs2356589 CUBN AR NM_001081 exon29 c.112617-24G>T 0.172724 0.1627 0.112563 0.0872 0.1796 Uncertain 10_16979606_G->T 10 16979606 16979606 G T snp 463.77 0/1 99 49 30 19 0.39 exonic rs2356590 CUBN AR nonsynonymous SNV NM_001081 exon39 c.C5911A p.P1971T 0.0794728 0.1627 0.017761 0.0582 0.1738 0.06 T 1.0 P -1.096 T 0.921 T 0.472 D Pathogenic 10_16979661_T->C 10 16979661 16979661 T C snp 2697.77 1/1 99 97 0 97 1.0 exonic rs1801234 CUBN AR synonymous SNV NM_001081 exon39 c.A5856G p.S1952S 0.541334 0.4911 0.510841 0.4625 0.5016 Uncertain 10_16980925_C->T 10 16980925 16980925 C T snp 230.77 0/1 99 18 9 9 0.5 intronic rs3817218 CUBN AR NM_001081 exon30 c.113988-36C>T 0.174321 0.1627 0.112640 0.0847 0.1732 Uncertain 10_16982061_C->T 10 16982061 16982061 C T snp 832.77 0/1 99 82 45 37 0.45 exonic rs2271462 CUBN AR nonsynonymous SNV NM_001081 exon37 c.G5518A p.G1840S 0.117612 0.1627 0.057281 0.0693 0.1730 0.04 T 1.0 P -1.050 T 0.962 D 0.43 D ID=CM156562;DIS=Nephrotic syndrome, steroid resistant;TAG=DM;PUB=25349199 DM Pathogenic 10_16982244_G->T 10 16982244 16982244 G T snp 168.77 0/1 99 23 13 10 0.43 intronic rs2271463 CUBN AR NM_001081 exon31 c.115263+8G>T 0.230431 0.2887 0.170075 0.2003 0.2973 Uncertain 10_16989427_T->C 10 16989427 16989427 T C snp 561.77 0/1 99 60 37 23 0.38 intronic rs2271466 CUBN AR NM_001081 exon32 c.122393+61T>C 0.286342 0.2599 Uncertain 10_16989486_T->A 10 16989486 16989486 T A snp 92.77 0/1 99 16 12 4 0.25 intronic rs2271467 CUBN AR NM_001081 exon32 c.122393+120T>A 0.179113 0.1627 Uncertain 10_16990552_G->A 10 16990552 16990552 G A snp 1336.77 0/1 99 94 37 57 0.61 exonic rs2271468 CUBN AR synonymous SNV NM_001081 exon35 c.C5134T p.L1712L 0.118211 0.1637 0.056897 0.0692 0.1724 Uncertain 10_17026010_A->C 10 17026010 17026010 A C snp 289.77 0/1 99 26 14 12 0.46 intronic rs2291523 CUBN AR NM_001081 exon38 c.159130-93A>C 0.791134 0.8065 Uncertain 10_17026384_A->G 10 17026384 17026384 A G snp 56.74 1/1 6 2 0 2 1.0 intronic rs3012494 CUBN AR NM_001081 exon38 c.159305+106A>G 0.684904 0.7361 Uncertain 10_17032559_A->C 10 17032559 17032559 A C snp 74.77 0/1 99 9 6 3 0.33 intronic rs925522 CUBN AR NM_001081 exon39 c.165541+45A>C 0.880791 0.8085 0.963171 0.9091 0.8121 Uncertain 10_17032561_A->G 10 17032561 17032561 A G snp 77.77 0/1 99 8 5 3 0.38 intronic rs925523 CUBN AR NM_001081 exon39 c.165541+47A>G 0.880591 0.8085 0.963094 0.9088 0.8124 Uncertain 10_17061681_A->G 10 17061681 17061681 A G snp 96.28 1/1 9 3 0 3 1.0 intronic rs3740164 CUBN AR NM_001081 exon40 c.194858-150A>G 0.676118 0.6647 Uncertain 10_17065379_A->- 10 17065379 17065379 A - indel 155.73 0/1 99 16 6 10 0.63 intronic rs137856627 CUBN AR NM_001081 exon40 c.195009+3397delA 0.298522 0.4018 Uncertain 10_17065761_T->C 10 17065761 17065761 T C snp 210.77 0/1 99 14 7 7 0.5 intronic rs17139621 CUBN AR NM_001081 exon40 c.195009+3779T>C 0.265575 0.3829 Uncertain 10_17110474_C->T 10 17110474 17110474 C T snp 209.84 1/1 18 10 0 10 1.0 intronic rs4747297 CUBN AR NM_001081 exon48 c.243630-129C>T 0.914537 0.9504 Uncertain 10_17110595_G->A 10 17110595 17110595 G A snp 1738.77 1/1 99 67 0 67 1.0 intronic rs10795440 CUBN AR NM_001081 exon48 c.243630-8G>A 0.911142 0.9454 0.848301 0.8568 0.9342 Uncertain 10_17113563_C->T 10 17113563 17113563 C T snp 2060.77 0/1 99 163 77 86 0.53 exonic rs1801225 CUBN AR synonymous SNV NM_001081 exon19 c.G2487A p.S829S 0.35603 0.5407 0.335691 0.4252 0.5500 Uncertain 10_17141952_C->A 10 17141952 17141952 C A snp 474.77 1/1 36 13 0 13 1.0 intronic rs1033765 CUBN AR NM_001081 exon54 c.275030-51C>A 0.657149 0.6577 0.786711 Uncertain 10_17146667_C->T 10 17146667 17146667 C T snp 1072.77 1/1 81 29 0 29 1.0 intronic rs4748353 CUBN AR NM_001081 exon56 c.279631+63C>T 0.939696 0.9256 Uncertain 10_17147521_G->T 10 17147521 17147521 G T snp 6437.77 1/1 99 235 0 235 1.0 exonic rs1801224 CUBN AR nonsynonymous SNV NM_001081 exon11 c.C1165A p.P389T 0.534345 0.6558 0.587575 0.6138 0.6686 0.02 T 1.000 P -0.971 T 0.666 T 0.212 P Pathogenic 10_17156151_A->G 10 17156151 17156151 A G snp 1122.77 0/1 99 127 76 51 0.4 exonic rs1801222 CUBN AR nonsynonymous SNV NM_001081 exon8 c.T758C p.F253S 0.799321 0.8472 0.698447 0.7278 0.8130 0.92 T 0.001 P -0.951 T 0.0 T 0.0 T Pathogenic 10_17157630_C->T 10 17157630 17157630 C T snp 1443.77 1/1 99 51 0 51 1.0 intronic rs2295813 CUBN AR NM_001081 exon61 c.290623+34C>T 0.905751 0.9276 0.920960 0.9344 0.9062 Uncertain 10_17164760_-->C 10 17164760 17164760 - C indel 1008.73 1/1 75 26 0 26 1.0 intronic rs11409967 CUBN AR NM_001081 exon62 c.297820-33insC 0.938099 0.9306 0.9433 0.9099 Uncertain 10_17171265_G->C 10 17171265 17171265 G C snp 1827.77 0/1 99 160 75 85 0.53 intronic rs2281648 CUBN AR NM_001081 exon66 c.304276+16G>C 0.805911 0.756 0.890846 0.9147 0.7364 Uncertain 10_17199419_C->G 10 17199419 17199419 C G snp 2318.77 0/1 99 196 93 103 0.53 intronic rs2295810 TRDMT1 AU NM_004412 exon4 c.8401-20C>G 0.874401 0.751 0.963319 0.9346 0.7351 Uncertain 10_17199830_A->C 10 17199830 17199830 A C snp 83.78 0/1 24 4 1 3 0.75 intronic rs7894268 TRDMT1 AU NM_004412 exon4 c.8745+47A>C 0.251597 0.2212 0.291234 0.2999 0.2341 Uncertain 10_17203356_G->T 10 17203356 17203356 G T snp 110.77 0/1 99 14 9 5 0.36 intronic rs3752950 TRDMT1 AU NM_004412 exon7 c.12443-125G>T 0.254593 0.2212 Uncertain 10_17203970_C->T 10 17203970 17203970 C T snp 77.78 0/1 24 4 1 3 0.75 intronic rs2176285 TRDMT1 AU NM_004412 exon8 c.13126-194C>T 0.876997 0.749 Uncertain 10_17204139_G->A 10 17204139 17204139 G A snp 1615.77 0/1 99 135 61 74 0.55 intronic rs33993216 TRDMT1 AU NM_004412 exon8 c.13126-25G>A 0.239217 0.2212 0.284177 0.2717 0.2091 Uncertain 10_17204187_G->A 10 17204187 17204187 G A snp 1582.77 0/1 99 112 47 65 0.58 exonic rs11254413 TRDMT1 AU nonsynonymous SNV NM_004412 exon4 c.C301T p.H101Y 0.384984 0.2599 0.445564 0.4176 0.2434 0.88 T 0.890 P -1.031 T 0.011 T 0.054 T Pathogenic 10_17204262_C->A 10 17204262 17204262 C A snp 169.77 0/1 99 23 12 11 0.48 intronic rs201306627 TRDMT1 AU NM_004412 exon8 c.13198+26C>A 0.00239617 0.0045 0.0002 Uncertain 10_17211383_T->C 10 17211383 17211383 T C snp 487.77 0/1 99 22 8 14 0.64 intronic rs7084476 TRDMT1 AU NM_004412 exon9 c.19878+467T>C 0.310903 0.2212 Uncertain 10_17216419_T->C 10 17216419 17216419 T C snp 559.77 0/1 99 34 15 19 0.56 intronic rs2273735 TRDMT1 AU NM_004412 exon10 c.25511-130T>C 0.419728 0.2599 Uncertain 10_17216556_C->T 10 17216556 17216556 C T snp 2936.77 0/1 99 246 118 128 0.52 exonic rs2273734 TRDMT1 AU synonymous SNV NM_004412 exon2 c.G168A p.T56T 0.383586 0.2599 0.443949 0.4167 0.2437 0 D 1.000 P -0.932 T 0.0 T 0.0 T Likely benign 10_17243406_C->G 10 17243406 17243406 C G snp 373.77 0/1 99 18 6 12 0.67 intronic rs1885395 TRDMT1 AU NM_004412 exon11 c.52531-163C>G 0.759185 0.7103 Uncertain 10_17243443_-->CCGCCCCACAGTGT 10 17243443 17243443 - CCGCCCCACAGTGT indel 2349.73 0/1 99 41 21 20 0.49 intronic rs577437637 TRDMT1 AU NM_004412 exon11 c.52531-126insCCGCCCCACAGTGT 0.212061 0.1964 0.202284 Uncertain 10_17243480_T->A 10 17243480 17243480 T A snp 1305.77 0/1 99 94 39 55 0.59 intronic rs1885394 TRDMT1 AU NM_004412 exon11 c.52531-89T>A 0.759784 0.7103 0.840570 Uncertain 10_17278171_C->G 10 17278171 17278171 C G snp 769.77 1/1 57 20 0 20 1.0 intronic rs165531 VIM AD NM_003380 exon9 c.6871-121C>G Uncertain 10_17645814_C->T 10 17645814 17645814 C T snp 1025.77 1/1 75 37 0 37 1.0 intronic HACD1 AU NM_014241 exon5 c.13381+71C>T 0.605232 0.5625 0.621272 Uncertain 10_17658996_T->C 10 17658996 17658996 T C snp 551.77 0/1 99 58 32 26 0.45 intronic HACD1 AU NM_014241 exon7 c.26719-85T>C 0.160343 0.2897 Uncertain 10_17659131_C->A 10 17659131 17659131 C A snp 3104.77 1/1 99 125 1 124 0.99 exonic HACD1 AU nonsynonymous SNV NM_014241 exon1 c.G208T p.V70F 1 1 1 1 0.5 T 0.0 P -1.047 T 0.0 T 0.001 T Pathogenic 10_17659149_C->G 10 17659149 17659149 C G snp 2641.77 ./1 99 113 0 113 1.0 exonic HACD1 AU nonsynonymous SNV NM_014241 exon1 c.G190C p.E64Q 0.108427 0.2321 0.039429 0.0635 0.1533 0.36 T 1.000 N -0.988 T 0.092 T 0.008 T Pathogenic 10_17659149_C->T 10 17659149 17659149 C T snp 2641.77 ./1 99 113 0 113 1.0 exonic HACD1 AU nonsynonymous SNV NM_014241 exon1 c.G190A p.E64K 0.891573 0.7679 0.960571 0.9365 0.8467 1 T 0.000 P -1.016 T 0.005 T 0.0 T Pathogenic 10_17702640_C->T 10 17702640 17702640 C T snp 1212.77 1/1 90 37 0 37 1.0 intronic STAM AU NM_003473 exon2 c.16209+93C>T 0.205871 0.252 Uncertain 10_17747812_A->G 10 17747812 17747812 A G snp 1215.77 1/1 87 40 0 40 1.0 intronic STAM AU NM_003473 exon12 c.61402+72A>G 0.1877 0.253 Uncertain 10_17813267_T->G 10 17813267 17813267 T G snp 1139.77 1/1 99 74 0 74 1.0 intergenic STAM AU 0.0908546 0.2262 0.033868 0.1245 0.3076 Uncertain 10_17891705_A->G 10 17891705 17891705 A G snp 3027.77 0/1 99 239 112 127 0.53 intronic rs1926736 MRC1 AU NM_002438 exon4 c.24374+15867A>G 0.622005 0.5833 0.623571 0.5364 0.5540 1 T 1.000 P -0.989 T Uncertain 10_18087630_TG->- 10 18087630 18087631 TG - indel 4367.73 1/1 99 86 0 86 1.0 UTR3 rs199734634 TMEM236 AU 0.185304 0.1835 0.238047 0.2958 0.2022 Uncertain 10_18242304_T->C 10 18242304 18242304 T C snp 4031.77 1/1 99 147 0 147 1.0 exonic SLC39A12 AU synonymous SNV NM_001145195 exon2 c.T99C p.D33D 0.927915 0.9087 0.933108 0.9060 0.9236 Uncertain 10_18266989_G->A 10 18266989 18266989 G A snp 5089.77 1/1 99 207 3 204 0.99 exonic rs2478568 SLC39A12 AU nonsynonymous SNV NM_001282734 exon4 c.G508A p.V170I 0.664736 0.6627 0.629632 0.6587 0.6740 0.21 T 0.0 P -1.005 T 0.0 T 0.001 T Pathogenic 10_18267096_G->A 10 18267096 18267096 G A snp 2266.77 1/1 99 75 1 74 0.99 intronic rs2437260 SLC39A12 AU NM_001145195 exon5 c.24798+93G>A 0.495407 0.6181 Uncertain 10_18270140_C->G 10 18270140 18270140 C G snp 256.8 1/1 21 8 0 8 1.0 intronic rs2437261 SLC39A12 AU NM_001145195 exon6 c.28035-100C>G 0.339457 0.5258 Uncertain 10_18270422_G->A 10 18270422 18270422 G A snp 1373.77 1/1 99 46 0 46 1.0 intronic rs1926739 SLC39A12 AU NM_001145195 exon6 c.28207+10G>A 0.495607 0.6171 0.430944 0.5052 0.6292 Uncertain 10_18276682_G->C 10 18276682 18276682 G C snp 807.77 1/1 60 26 0 26 1.0 intronic rs10508555 SLC39A12 AU NM_001145195 exon7 c.34375+102G>C 0.378195 0.4573 Uncertain 10_18331480_A->T 10 18331480 18331480 A T snp 137.77 0/1 99 21 15 6 0.29 intronic rs16916794 SLC39A12 AU NM_001145195 exon13 c.89428-153A>T 0.120607 0.2312 Uncertain 10_18430220_G->A 10 18430220 18430220 G A snp 121.77 0/1 99 13 6 7 0.54 intronic rs12572321 CACNB2 AU NM_001167945 exon1 c.36+76G>A 0.107628 0.0506 Uncertain 10_18550450_G->A 10 18550450 18550450 G A snp 99.28 1/1 9 3 0 3 1.0 intronic rs951046 CACNB2 AU NM_000724 exon1 c.48+204G>A 0.626398 0.6032 Uncertain 10_18551154_G->A 10 18551154 18551154 G A snp 141.03 1/1 12 4 0 4 1.0 intronic rs10764369 CACNB2 AU NM_000724 exon1 c.48+908G>A 0.414137 0.6825 Uncertain 10_18795596_G->A 10 18795596 18795596 G A snp 1829.77 1/1 99 50 0 50 1.0 intronic rs10741088 CACNB2 AU NM_201597 exon6 c.365811+120G>A 0.503395 0.6042 Uncertain 10_18808801_T->G 10 18808801 18808801 T G snp 3201.82 0/1 99 214 98 116 0.54 intronic rs77728096 CACNB2 AU NM_201597 exon9 c.378232+904T>G 0.0227636 0.0268 Uncertain 10_18816633_C->T 10 18816633 18816633 C T snp 3681.77 1/1 99 138 2 136 0.99 intronic rs4314963 CACNB2 AU NM_201597 exon10 c.386961+7C>T 0.239417 0.251 0.175227 0.2150 0.2679 Uncertain 10_18825176_-->C 10 18825176 18825176 - C indel 1500.73 1/1 81 46 3 43 0.93 intronic rs35936908 CACNB2 AU NM_201597 exon12 c.395460+51insC 0.0006 0 Uncertain 10_18828371_C->T 10 18828371 18828371 C T snp 6504.77 1/1 99 247 0 247 1.0 exonic rs2228645 CACNB2 AU synonymous SNV NM_000724 exon13 c.C1536T p.Y512Y 0.23722 0.2381 0.177533 0.2129 0.2378 Uncertain 10_18828663_G->T 10 18828663 18828663 G T snp 2183.77 1/1 99 73 0 73 1.0 UTR3 rs4747352 CACNB2 AU 0.774361 0.9613 0.7881 0.9723 Uncertain 10_18828670_TTT->- 10 18828670 18828672 TTT - indel 942.73 0/1 99 59 7 52 0.88 UTR3 rs766355351 CACNB2 AU 0.1166 0.1749 Uncertain 10_18836957_C->T 10 18836957 18836957 C T snp 1118.77 1/1 81 34 0 34 1.0 intronic rs4747353 NSUN6 AU NM_182543 exon2 c.2179-83C>T 0.802915 0.9613 Uncertain 10_18840919_T->A 10 18840919 18840919 T A snp 1354.77 1/1 99 43 0 43 1.0 intronic rs12767546 NSUN6 AU NM_182543 exon3 c.6039+19T>A 0.335463 0.2381 0.317084 0.3343 0.2402 Uncertain 10_18875109_G->A 10 18875109 18875109 G A snp 230.84 1/1 18 10 0 10 1.0 intronic rs12772522 NSUN6 AU NM_182543 exon4 c.40161+87G>A 0.249401 0.2371 Uncertain 10_18898701_T->A 10 18898701 18898701 T A snp 302.78 1/1 24 10 0 10 1.0 intronic rs4748493 NSUN6 AU NM_182543 exon6 c.63912-72T>A 0.625799 0.9792 Uncertain 10_18898729_-->T 10 18898729 18898729 - T indel 556.73 1/1 42 14 0 14 1.0 intronic rs34349692 NSUN6 AU NM_182543 exon6 c.63912-44insT 0.274161 0.255 0.199504 0.2460 0.2566 Uncertain 10_18898960_A->G 10 18898960 18898960 A G snp 1235.77 1/1 90 38 0 38 1.0 intronic rs4748494 NSUN6 AU NM_182543 exon6 c.63994+105A>G 0.624401 0.9792 Uncertain 10_18903281_-->A 10 18903281 18903281 - A indel 1286.73 1/1 99 53 1 52 0.98 intronic rs11405681 NSUN6 AU NM_182543 exon7 c.68527-107insA 0.901757 0.8958 Uncertain 10_18903605_A->C 10 18903605 18903605 A C snp 473.77 1/1 36 12 0 12 1.0 intronic rs4636555 NSUN6 AU NM_182543 exon7 c.68681+63A>C 0.688498 0.9792 Uncertain 10_18931512_T->C 10 18931512 18931512 T C snp 534.77 0/1 99 44 20 24 0.55 intronic rs7907153 NSUN6 AU NM_182543 exon9 c.96623+28T>C 0.635383 0.9216 0.540840 0.5863 0.9404 Uncertain 10_18931580_C->T 10 18931580 18931580 C T snp 259.77 0/1 99 22 11 11 0.5 intronic rs7897159 NSUN6 AU NM_182543 exon9 c.96623+96C>T 0.218051 0.1994 Uncertain 10_18937579_-->AAG 10 18937579 18937579 - AAG indel 1508.73 1/1 84 34 0 34 1.0 splicing rs397710899 NSUN6 AU NM_182543 exon10 c.102713+5insAAG 0.657748 0.9583 0.537810 0.6082 0.9672 Pathogenic 10_18957647_T->G 10 18957647 18957647 T G snp 1974.77 1/1 99 62 0 62 1.0 intronic rs10741127 ARL5B AU NM_178815 exon3 c.9040+41T>G 0.509585 0.872 0.368445 0.4376 0.8730 Uncertain 10_18957699_-->T 10 18957699 18957699 - T indel 59.25 0/1 9 26 2 24 0.92 intronic rs533648574 ARL5B AU NM_178815 exon3 c.9040+93insT Uncertain 10_18957766_T->G 10 18957766 18957766 T G snp 56.74 1/1 6 3 0 3 1.0 intronic rs4748506 ARL5B AU NM_178815 exon3 c.9040+160T>G 0.109824 0.1488 Uncertain 10_19377215_A->G 10 19377215 19377215 A G snp 64.77 0/1 93 12 8 4 0.33 intronic rs11008436 MALRD1 AU NM_001142308 exon4 c.39247+101A>G 0.247804 0.1647 Uncertain 10_19392857_T->C 10 19392857 19392857 T C snp 721.77 0/1 99 76 46 30 0.39 intronic rs10159517 MALRD1 AU NM_001142308 exon5 c.55040-50T>C 0.573283 0.5615 Uncertain 10_19412632_G->A 10 19412632 19412632 G A snp 321.77 0/1 99 28 17 11 0.39 intronic rs540933679 MALRD1 AU NM_001142308 exon6 c.74655+110G>A 0.000399361 0.002 Uncertain 10_19492566_A->T 10 19492566 19492566 A T snp 1000.77 1/1 75 28 0 28 1.0 intronic rs7902704 MALRD1 AU NM_001142308 exon15 c.154789-90A>T 0.790136 0.8264 Uncertain 10_19492686_T->C 10 19492686 19492686 T C snp 1813.77 0/1 99 174 98 76 0.44 exonic rs142985306 MALRD1 AU nonsynonymous SNV NM_001142308 exon15 c.T1981C p.C661R 0.00299521 0.0149 Pathogenic 10_19492832_A->C 10 19492832 19492832 A C snp 2918.77 1/1 99 97 0 97 1.0 intronic rs7476259 MALRD1 AU NM_001142308 exon15 c.154942+23A>C 0.937101 0.999 0.8947 1 Uncertain 10_19493144_T->C 10 19493144 19493144 T C snp 337.78 1/1 27 9 0 9 1.0 intronic rs10827051 MALRD1 AU NM_001142308 exon16 c.155369-92T>C 0.417732 0.4722 Uncertain 10_19493210_-->T 10 19493210 19493210 - T indel 140.74 0/1 28 34 7 27 0.79 intronic rs543694614 MALRD1 AU NM_001142308 exon16 c.155369-26insT 0.427516 0.4058 0.1416 0.2735 Uncertain 10_19493415_C->G 10 19493415 19493415 C G snp 765.77 1/1 57 26 0 26 1.0 intronic rs2358348 MALRD1 AU NM_001142308 exon16 c.155475+73C>G 0.790136 0.8264 Uncertain 10_19498278_G->A 10 19498278 19498278 G A snp 5580.77 1/1 99 201 0 201 1.0 exonic rs2358355 MALRD1 AU nonsynonymous SNV NM_001142308 exon18 c.G2660A p.S887N 0.935503 0.999 0.8914 1 0.0 P -1.037 T Pathogenic 10_19498722_A->G 10 19498722 19498722 A G snp 478.77 1/1 36 12 0 12 1.0 intronic rs2245136 MALRD1 AU NM_001142308 exon18 c.160742+113A>G 0.786542 0.6091 Uncertain 10_19616735_T->C 10 19616735 19616735 T C snp 486.77 0/1 99 26 9 17 0.65 intronic rs1577289 MALRD1 AU NM_001142308 exon23 c.278735+133T>C 0.585863 0.5258 Uncertain 10_19620407_A->C 10 19620407 19620407 A C snp 2036.77 0/1 99 199 107 92 0.46 exonic rs7100382 MALRD1 AU nonsynonymous SNV NM_001142308 exon24 c.A3797C p.D1266A 0.582268 0.5248 0.5609 0.5285 0.897 P -0.884 T Pathogenic 10_19620439_A->G 10 19620439 19620439 A G snp 1971.77 0/1 99 195 102 93 0.48 exonic rs7100403 MALRD1 AU nonsynonymous SNV NM_001142308 exon24 c.A3829G p.I1277V 0.505591 0.5248 0.5211 0.5306 1.0 P -1.213 T Pathogenic 10_19620559_G->A 10 19620559 19620559 G A snp 1171.77 1/1 90 34 0 34 1.0 intronic rs7082205 MALRD1 AU NM_001142308 exon24 c.282644+48G>A 0.732827 0.6796 0.6790 0.6841 Uncertain 10_19636869_G->T 10 19636869 19636869 G T snp 2140.77 0/1 99 174 87 87 0.5 exonic rs1609746 MALRD1 AU nonsynonymous SNV NM_001142308 exon25 c.G4071T p.K1357N 0.501198 0.5218 0.5172 0.5266 1.0 P -1.133 T Pathogenic 10_19637088_G->A 10 19637088 19637088 G A snp 628.77 1/1 48 17 0 17 1.0 intronic rs1577307 MALRD1 AU NM_001142308 exon25 c.299080+141G>A 0.748203 0.6796 Uncertain 10_19641035_T->C 10 19641035 19641035 T C snp 1368.77 0/1 99 131 74 57 0.44 exonic rs10827306 MALRD1 AU nonsynonymous SNV NM_001142308 exon26 c.T4250C p.V1417A 0.521965 0.5228 0.5261 0.5287 1.000 P -1.059 T Pathogenic 10_19641231_A->G 10 19641231 19641231 A G snp 1712.77 0/1 99 125 57 68 0.54 splicing rs7092566 MALRD1 AU NM_001142308 exon26 c.303359+5A>G 0.550719 0.5218 0.5533 0.5385 Pathogenic 10_19641240_TG->- 10 19641240 19641241 TG - indel 3852.73 1/1 99 114 0 114 1.0 intronic rs10616221 MALRD1 AU NM_001142308 exon26 c.303359+14_303359+15delTG 0.884385 0.8423 0.8763 0.8247 Uncertain 10_19676553_A->G 10 19676553 19676553 A G snp 1897.77 0/1 99 152 75 77 0.51 exonic rs12773592 MALRD1 AU nonsynonymous SNV NM_001142308 exon27 c.A4538G p.D1513G 0.128195 0.1558 0.1380 0.1571 1.0 P -0.966 T Pathogenic 10_19676561_G->A 10 19676561 19676561 G A snp 1831.77 0/1 99 152 78 74 0.49 exonic rs12771333 MALRD1 AU nonsynonymous SNV NM_001142308 exon27 c.G4546A p.E1516K 0.128395 0.1558 0.1377 0.1571 1.000 P -0.920 T Pathogenic 10_19678286_C->T 10 19678286 19678286 C T snp 5471.77 1/1 99 188 0 188 1.0 intronic rs10763974 MALRD1 AU NM_001142308 exon28 c.340513-94C>T 0.830471 0.8264 0.8008 0.8160 0.000 P -1.069 T Uncertain 10_19678497_G->A 10 19678497 19678497 G A snp 1782.77 1/1 90 67 1 66 0.99 exonic rs10763975 MALRD1 AU nonsynonymous SNV NM_001142308 exon28 c.G4804A p.V1602I 0.839257 0.8343 0.8187 0.8232 1.000 P -1.072 T Pathogenic 10_19678602_T->C 10 19678602 19678602 T C snp 165.9 1/1 15 5 0 5 1.0 intronic rs7896087 MALRD1 AU NM_001142308 exon28 c.340671+64T>C 0.830272 0.8264 Uncertain 10_19739459_T->G 10 19739459 19739459 T G snp 1832.77 1/1 99 64 0 64 1.0 intronic rs6415957 MALRD1 AU NM_001142308 exon29 c.401552+40T>G 0.963059 1 0.9692 1 Uncertain 10_19739547_A->G 10 19739547 19739547 A G snp 191.8 0/1 21 7 1 6 0.86 intronic rs187858605 MALRD1 AU NM_001142308 exon29 c.401552+128A>G 0.00119808 0.005 Uncertain 10_19778056_G->A 10 19778056 19778056 G A snp 1580.77 0/1 99 148 76 72 0.49 intronic rs2151234 MALRD1 AU NM_001142308 exon30 c.442578-2389G>A 0.448682 0.3353 0.4802 0.3179 0.000 P -0.908 T Uncertain 10_19778072_A->G 10 19778072 19778072 A G snp 3393.77 1/1 99 124 0 124 1.0 intronic rs2184035 MALRD1 AU NM_001142308 exon30 c.442578-2373A>G 0.96266 1 0.9696 1 0.000 P -1.014 T Uncertain 10_19780463_C->A 10 19780463 19780463 C A snp 1992.77 0/1 99 195 107 88 0.45 exonic rs16918863 MALRD1 AU nonsynonymous SNV NM_001142308 exon30 c.C5047A p.L1683I 0.221446 0.1339 0.0927 0.1364 0.000 P -1.012 T Pathogenic 10_19787418_T->G 10 19787418 19787418 T G snp 1439.77 0/1 99 109 45 64 0.59 exonic rs12256835 MALRD1 AU nonsynonymous SNV NM_001142308 exon31 c.T5163G p.H1721Q 0.318091 0.245 0.2403 0.2798 1.000 P -0.926 T Pathogenic 10_19819996_C->G 10 19819996 19819996 C G snp 135.03 1/1 12 4 0 4 1.0 intronic rs1338612 MALRD1 AU NM_001142308 exon32 c.482255-126C>G 0.822883 0.8819 Uncertain 10_19820222_T->C 10 19820222 19820222 T C snp 1151.77 0/1 99 81 34 47 0.58 exonic rs7100661 MALRD1 AU nonsynonymous SNV NM_001142308 exon32 c.T5420C p.M1807T 0.126797 0.0298 0.0560 0.0432 0.001 P -1.128 T Pathogenic 10_19896830_C->A 10 19896830 19896830 C A snp 1145.77 0/1 99 83 35 48 0.58 exonic rs7909976 MALRD1 AU synonymous SNV NM_001142308 exon35 c.C6069A p.S2023S 0.820088 0.7768 0.8669 0.7798 Uncertain 10_19904721_A->G 10 19904721 19904721 A G snp 149.77 0/1 99 17 11 6 0.35 intronic rs16919173 MALRD1 AU NM_001142308 exon36 c.566918-64A>G 0.0788738 0.0308 Uncertain 10_19904871_TT->- 10 19904871 19904872 TT - indel 1097.73 ./1 99 42 0 42 1.0 intronic rs10580913 MALRD1 AU NM_001142308 exon36 c.566985+19_566985+20delTT 0.396565 0.4603 0.4756 0.4167 Uncertain 10_19904871_T->- 10 19904871 19904871 T - indel 1097.73 ./1 99 42 0 42 1.0 intronic rs568263749 MALRD1 AU NM_001142308 exon36 c.566985+19delT 0.0792732 0.0317 0.0272 0.0444 Uncertain 10_19981203_C->A 10 19981203 19981203 C A snp 887.77 0/1 99 77 40 37 0.48 intronic rs78991042 MALRD1 AU NM_001142308 exon37 c.643343-7C>A 0.0577077 0.12 0.0163 0.0670 Uncertain 10_20023361_T->C 10 20023361 20023361 T C snp 46.77 0/1 33 3 1 2 0.67 UTR3 rs150734804 MALRD1 AU 0.0179712 0.0198 Uncertain 10_20105936_T->C 10 20105936 20105936 T C snp 1136.77 1/1 84 30 0 30 1.0 UTR5 rs989767 PLXDC2 AU 0.697883 0.5437 Uncertain 10_20290956_T->A 10 20290956 20290956 T A snp 77.77 0/1 99 7 4 3 0.43 intronic rs1409344 PLXDC2 AU NM_032812 exon2 c.184907+41T>A 0.433906 0.5972 0.459917 0.5100 0.6153 Uncertain 10_20336112_G->T 10 20336112 20336112 G T snp 90.28 1/1 9 3 0 3 1.0 intronic rs10740961 PLXDC2 AU NM_032812 exon3 c.229936+168G>T 0.682708 0.8631 Uncertain 10_20357050_G->T 10 20357050 20357050 G T snp 1336.77 0/1 99 95 41 54 0.57 intronic rs7911756 PLXDC2 AU NM_032812 exon4 c.251090-48G>T 0.333466 0.6032 0.225281 0.2000 0.6055 Uncertain 10_20357183_A->G 10 20357183 20357183 A G snp 1108.77 0/1 99 107 57 50 0.47 intronic rs7072650 PLXDC2 AU NM_032812 exon4 c.251160+15A>G 0.221845 0.3036 0.152622 0.2397 0.2986 Uncertain 10_20357233_G->T 10 20357233 20357233 G T snp 746.77 0/1 99 49 24 25 0.51 intronic rs7912036 PLXDC2 AU NM_032812 exon4 c.251160+65G>T 0.332668 0.6052 0.214286 Uncertain 10_20432411_G->A 10 20432411 20432411 G A snp 376.77 0/1 99 33 15 18 0.55 intronic rs11011824 PLXDC2 AU NM_032812 exon5 c.326338+65G>A 0.0966454 0.3442 Uncertain 10_20436875_G->A 10 20436875 20436875 G A snp 1527.77 0/1 99 138 72 66 0.48 intronic rs11815026 PLXDC2 AU NM_032812 exon6 c.330823+44G>A 0.26258 0.379 0.212287 0.1760 0.3877 Uncertain 10_20500592_T->C 10 20500592 20500592 T C snp 1249.77 0/1 99 138 76 62 0.45 splicing rs16920092 PLXDC2 AU NM_032812 exon10 c.394589-5T>C 0.277157 0.4196 0.221898 0.1911 0.4195 Pathogenic 10_20500710_G->A 10 20500710 20500710 G A snp 582.77 0/1 99 68 42 26 0.38 intronic rs12259741 PLXDC2 AU NM_032812 exon10 c.394650+52G>A 0.421126 0.4216 0.438531 0.3703 0.4162 Uncertain 10_20500743_T->G 10 20500743 20500743 T G snp 688.77 0/1 99 38 14 24 0.63 intronic rs10827997 PLXDC2 AU NM_032812 exon10 c.394650+85T>G 0.290136 0.5317 Uncertain 10_20841150_C->T 10 20841150 20841150 C T snp 165.77 0/1 99 22 15 7 0.32 downstream rs2496601 MIR4675 AU 0.511981 0.2688 Uncertain 10_21108377_C->T 10 21108377 21108377 C T snp 2909.77 1/1 99 111 0 111 1.0 exonic rs1006363 NEBL AU synonymous SNV NM_006393 exon20 c.G2031A p.R677R 0.183706 0.252 0.221052 0.2477 0.2342 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter|criteria_provided\x2c_single_submitter;CLNACC=RCV000038694.2|RCV000127185.1;CLNDSDB=MedGen|MedGen;CLNDSDBID=CN169374|CN221809 Uncertain 10_21141469_T->C 10 21141469 21141469 T C snp 2133.77 1/1 99 84 0 84 1.0 splicing rs703089 NEBL AU NM_006393 exon19 c.66798-4T>C 0.952476 0.9117 0.992773 0.9709 0.9169 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter|criteria_provided\x2c_single_submitter;CLNACC=RCV000038676.2|RCV000127177.1;CLNDSDB=MedGen|MedGen;CLNDSDBID=CN169374|CN221809 Pathogenic 10_21147370_T->A 10 21147370 21147370 T A snp 252.8 1/1 21 7 0 7 1.0 intronic rs1409273 NEBL AU NM_006393 exon20 c.72598+97T>A 0.531949 0.4494 Uncertain 10_21148584_C->A 10 21148584 21148584 C A snp 811.77 1/1 57 34 0 34 1.0 intronic rs4748729 NEBL AU NM_006393 exon21 c.73966-57C>A 0.502995 0.3909 Uncertain 10_21157492_T->C 10 21157492 21157492 T C snp 1532.77 1/1 99 51 0 51 1.0 intronic rs2296609 NEBL AU NM_006393 exon22 c.82917-100T>C 0.678914 0.5169 Uncertain 10_21176945_G->A 10 21176945 21176945 G A snp 788.77 1/1 57 28 0 28 1.0 intronic rs703100 NEBL AU NM_006393 exon25 c.102350-80G>A 0.886981 0.8819 Uncertain 10_21177157_A->- 10 21177157 21177157 A - indel 596.73 1/1 54 30 0 30 1.0 intronic rs67288319 NEBL AU NM_006393 exon25 c.102461+21delA 0.540535 0.3998 0.595124 0.6124 0.4144 Uncertain 10_21178574_G->A 10 21178574 21178574 G A snp 50.74 1/1 6 2 0 2 1.0 intronic rs697161 NEBL AU NM_006393 exon26 c.104098-199G>A 0.888578 0.8819 Uncertain 10_21185821_A->C 10 21185821 21185821 A C snp 2307.77 1/1 99 85 0 85 1.0 intronic rs788971 NEBL AU NM_006393 exon27 c.111211-65A>C 0.923522 0.9067 Uncertain 10_21414892_C->G 10 21414892 21414892 C G snp 6241.77 1/1 99 241 1 240 1.0 exonic rs625223 C10orf113 AU nonsynonymous SNV NM_001010896 exon2 c.G328C p.D110H 0.542931 0.7063 0.425342 0.4045 0.7197 0 D 0.000 P -0.988 T 0.09 T 0.031 T Pathogenic 10_21415006_T->C 10 21415006 21415006 T C snp 1181.77 0/1 99 97 49 48 0.49 exonic rs11591355 C10orf113 AU nonsynonymous SNV NM_001010896 exon2 c.A214G p.R72G 0.14976 0.3115 0.101892 0.1521 0.3060 0 D 0.0 P -0.981 T 0.0 T 0.001 T Pathogenic 10_21435341_CACT->- 10 21435341 21435344 CACT - indel 7982.73 0/1 99 249 125 124 0.5 exonic rs45546236 C10orf113 AU frameshift deletion NM_001010896 exon1 c.94_97del p.S32fs 0.251597 0.3571 0.193610 0.2139 0.3449 Pathogenic 10_21461232_G->A 10 21461232 21461232 G A snp 563.77 0/1 99 37 17 20 0.54 intergenic rs35856892 C10orf113 AU 0.230232 0.3562 Uncertain 10_21461410_-->A 10 21461410 21461410 - A indel 572.73 1/1 83 53 1 52 0.98 intergenic rs11413698 C10orf113 AU 0.353634 0.4881 0.2510 0.3862 CLINSIG=untested;CLNDBN=not_specified;CLNREVSTAT=no_assertion_provided;CLNACC=RCV000151553.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 10_22027644_G->A 10 22027644 22027644 G A snp 178.9 1/1 15 5 0 5 1.0 intronic rs2050905 MLLT10 AD NM_001195626 exon21 c.205385-1314G>A 0.809105 0.9692 Uncertain 10_22193422_T->C 10 22193422 22193422 T C snp 469.77 1/1 36 18 0 18 1.0 intronic rs792455 DNAJC1 AU NM_022365 exon6 c.147835-28T>C 0.717851 0.9821 0.642273 0.7286 0.9892 Uncertain 10_22208630_T->C 10 22208630 22208630 T C snp 222.84 1/1 18 6 0 6 1.0 intronic rs2807978 DNAJC1 AU NM_022365 exon8 c.163145-130T>C 0.752196 0.9524 Uncertain 10_22497710_C->T 10 22497710 22497710 C T snp 152.77 0/1 99 12 6 6 0.5 downstream rs2479114 EBLN1 AU 0.226438 0.2133 Uncertain 10_22498209_A->G 10 22498209 22498209 A G snp 2967.77 0/1 99 216 103 113 0.52 exonic rs2243897 EBLN1 AU nonsynonymous SNV NM_001199938 exon1 c.T704C p.M235T 0.313898 0.2202 0.3520 0.3035 Pathogenic 10_22498468_C->T 10 22498468 22498468 C T snp 3583.77 0/1 99 249 117 132 0.53 exonic rs838759 EBLN1 AU nonsynonymous SNV NM_001199938 exon1 c.G445A p.G149R 0.226238 0.2123 0.2985 0.3023 Pathogenic 10_22498484_-->AGA 10 22498484 22498484 - AGA indel 6861.73 0/1 99 249 118 131 0.53 exonic rs3059425 EBLN1 AU nonframeshift insertion NM_001199938 exon1 c.428_429insTCT p.L143delinsLL 0.329073 0.2192 0.2992 0.2968 Uncertain 10_22498749_A->T 10 22498749 22498749 A T snp 7077.77 1/1 99 249 0 249 1.0 exonic rs2478476 EBLN1 AU nonsynonymous SNV NM_001199938 exon1 c.T164A p.V55D 0.998802 1 0.9996 1 Pathogenic 10_22634783_G->C 10 22634783 22634783 G C snp 89.77 0/1 99 120 107 13 0.11 intronic rs546600661 SPAG6 AU NM_012443 exon2 c.207+36G>C 0.00678914 0.0337 8.807e-05 0.0015 1.000 N -0.993 T Uncertain 10_22634784_-->CCT 10 22634784 22634784 - CCT indel 1821.73 0/1 99 121 79 42 0.35 intronic SPAG6 AU NM_012443 exon2 c.207+37insCCT Uncertain 10_22828842_GA->- 10 22828842 22828843 GA - indel 1421.73 1/1 99 35 0 35 1.0 intronic rs150482394 PIP4K2A AU NM_005028 exon2 c.2770-57_2770-56delGA Uncertain 10_22830719_G->C 10 22830719 22830719 G C snp 7489.77 1/1 99 250 0 250 1.0 intronic rs943192 PIP4K2A AU NM_005028 exon3 c.4603-13G>C 0.926917 0.999 0.908273 0.9427 0.9999 Uncertain 10_22839628_T->C 10 22839628 22839628 T C snp 2711.77 1/1 99 104 2 102 0.98 exonic rs2230469 PIP4K2A AU nonsynonymous SNV NM_005028 exon7 c.A752G p.N251S 0.21226 0.3839 0.245771 0.2694 0.4196 0.55 T 1.000 P -0.924 T 0.001 T 0.006 T ID=CM068312;DIS=Schizophrenia, association with;TAG=DFP;PUB=16801950 DFP Pathogenic 10_22856946_C->T 10 22856946 22856946 C T snp 801.77 1/1 60 21 0 21 1.0 intronic rs2296624 PIP4K2A AU NM_005028 exon5 c.30689+128C>T 0.265974 0.371 Uncertain 10_22896779_C->T 10 22896779 22896779 C T snp 2554.77 1/1 99 86 0 86 1.0 intronic rs2765997 PIP4K2A AU NM_005028 exon8 c.70726-76C>T 0.769369 0.9484 0.6690 0.9386 Uncertain 10_23220883_T->A 10 23220883 23220883 T A snp 658.77 0/1 99 54 24 30 0.56 intronic rs12360508 ARMC3 AU 0.322085 0.4623 0.196508 0.2165 0.4777 Uncertain 10_23270240_T->G 10 23270240 23270240 T G snp 286.77 0/1 99 24 12 12 0.5 intronic rs148873904 ARMC3 AU NM_001282747 exon6 c.12977-28T>G 0.00419329 0.0179 0.002395 0.0036 0.0238 Uncertain 10_23297301_C->T 10 23297301 23297301 C T snp 1024.77 1/1 72 43 0 43 1.0 exonic rs11817610 ARMC3 AU synonymous SNV NM_001282747 exon12 c.C1137T p.N379N 0.5 0.5476 0.520837 0.5771 0.5586 Uncertain 10_23297336_A->T 10 23297336 23297336 A T snp 833.77 1/1 60 34 0 34 1.0 intronic rs11819616 ARMC3 AU NM_001282747 exon12 c.40012+33A>T 0.500399 0.5486 0.523202 0.5525 0.5360 Uncertain 10_23303253_T->A 10 23303253 23303253 T A snp 1222.77 1/1 90 34 0 34 1.0 UTR3 rs1054052 ARMC3 AU 0.533746 0.5536 Uncertain 10_23393066_A->G 10 23393066 23393066 A G snp 1700.77 0/1 99 154 75 79 0.51 intronic rs1555804 MSRB2 AU NM_012228 exon2 c.8535-6A>G 0.128594 0.0764 0.091445 0.0509 0.0777 Uncertain 10_23393226_C->G 10 23393226 23393226 C G snp 313.77 0/1 99 33 19 14 0.42 intronic rs1555805 MSRB2 AU NM_012228 exon2 c.8636+53C>G 0.411142 0.3502 Uncertain 10_23393268_A->T 10 23393268 23393268 A T snp 116.77 0/1 99 8 4 4 0.5 intronic rs2296467 MSRB2 AU NM_012228 exon2 c.8636+95A>T 0.199281 0.3046 Uncertain 10_23408139_A->G 10 23408139 23408139 A G snp 1546.77 1/1 99 55 0 55 1.0 intronic rs2296468 MSRB2 AU NM_012228 exon4 c.23695-93A>G 0.8752 0.6776 Uncertain 10_23482635_T->C 10 23482635 23482635 T C snp 2350.77 1/1 99 76 0 76 1.0 exonic rs7918487 PTF1A AR nonsynonymous SNV NM_178161 exon2 c.T787C p.S263P 0.624401 0.869 0.510764 0.5470 0.8903 0.03 T 0.998 P -0.925 T 0.022 T 0.011 T CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000118082.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 10_23482850_G->A 10 23482850 23482850 G A snp 5445.77 1/1 99 197 0 197 1.0 UTR3 rs10828415 PTF1A AR 0.212859 0.6895 0.058588 0.1277 0.6880 Uncertain 10_23556110_A->G 10 23556110 23556110 A G snp 1627.77 1/1 99 63 1 62 0.98 intergenic rs4382803 LINC01552 AU 0.227236 0.6696 0.1268 0.6725 Uncertain 10_23570792_A->G 10 23570792 23570792 A G snp 565.77 1/1 42 16 0 16 1.0 intergenic rs11013364 LINC01552 AU 0.261581 0.6677 Uncertain 10_23580058_T->C 10 23580058 23580058 T C snp 262.77 0/1 99 33 19 14 0.42 intergenic rs59739390 LINC01552 AU 0.0922524 0.372 0.0338 0.3589 Uncertain 10_23609897_C->T 10 23609897 23609897 C T snp 557.77 1/1 42 16 0 16 1.0 intronic rs11013386 C10orf67 AU NM_153714 exon2 c.1906+153C>T 0.195088 0.6379 Uncertain 10_23611189_ATTA->- 10 23611189 23611192 ATTA - indel 304.87 1/1 15 5 0 5 1.0 intronic rs397846342 C10orf67 AU NM_153714 exon3 c.3484-133_3484-130delATTA 0.51877 0.7312 Uncertain 10_23632970_T->G 10 23632970 23632970 T G snp 949.77 1/1 69 33 0 33 1.0 intronic rs11013408 C10orf67 AU NM_153714 exon5 c.25659-527T>G 0.688698 0.8571 Uncertain 10_23633566_C->A 10 23633566 23633566 C A snp 1648.77 1/1 99 60 0 60 1.0 exonic rs2036917 C10orf67 AU synonymous SNV NM_153714 exon1 c.G141T p.R47R 0.67472 0.8562 0.557838 0.6163 0.8654 Uncertain 10_23682580_T->C 10 23682580 23682580 T C snp 528.77 1/1 39 17 0 17 1.0 downstream rs12049727 MIR1254-2 AU 0.278554 0.5774 Uncertain 10_24564831_C->T 10 24564831 24564831 C T snp 1151.77 0/1 99 95 47 48 0.51 intronic rs10764458 KIAA1217 AU NM_019590 exon2 c.10716+55993C>T 0.86222 0.7847 Uncertain 10_24783384_T->C 10 24783384 24783384 T C snp 1266.77 0/1 99 118 63 55 0.47 intronic rs3818673 KIAA1217 AU NM_019590 exon7 c.285306-44T>C 0.319888 0.373 0.256036 0.2426 0.3595 Uncertain 10_24783393_C->A 10 24783393 24783393 C A snp 1279.77 0/1 99 123 63 60 0.49 intronic rs3818672 KIAA1217 AU NM_019590 exon7 c.285306-35C>A 0.318091 0.37 0.256343 0.2419 0.3572 Uncertain 10_24784015_AA->- 10 24784015 24784016 AA - indel 577.73 0/1 99 34 10 24 0.71 intronic rs398045908 KIAA1217 AU NM_019590 exon8 c.285953-60_285953-59delAA 0.246605 0.3185 Uncertain 10_24790519_C->G 10 24790519 24790519 C G snp 481.77 1/1 36 15 0 15 1.0 intronic rs79405003 KIAA1217 AU NM_019590 exon9 c.292352+45C>G 0.0439297 0.131 0.006462 0.0203 0.1195 Uncertain 10_24810603_C->T 10 24810603 24810603 C T snp 1326.77 1/1 99 39 1 38 0.97 intronic rs3818674 KIAA1217 AU NM_019590 exon12 c.312588-107C>T 0.186502 0.4097 Uncertain 10_24813282_G->C 10 24813282 24813282 G C snp 3131.77 1/1 99 115 0 115 1.0 exonic rs2297329 KIAA1217 AU synonymous SNV NM_019590 exon13 c.G2487C p.T829T 0.142572 0.1468 0.108104 0.0749 0.1447 Uncertain 10_24813327_A->G 10 24813327 24813327 A G snp 3828.77 1/1 99 134 0 134 1.0 exonic rs2297328 KIAA1217 AU synonymous SNV NM_019590 exon13 c.A2532G p.T844T 0.159744 0.1677 0.121021 0.0831 0.1570 Uncertain 10_24816869_C->T 10 24816869 24816869 C T snp 878.77 0/1 99 110 66 44 0.4 exonic rs200338973 KIAA1217 AU nonsynonymous SNV NM_019590 exon14 c.C2903T p.A968V 0.000399361 0.002 0.0005 0.0075 0.09 T 1.000 D -0.469 T 0.944 T 0.753 D Pathogenic 10_24831505_G->C 10 24831505 24831505 G C snp 511.77 0/1 99 39 21 18 0.46 intronic rs867040 KIAA1217 AU NM_019590 exon18 c.333499-116G>C 0.213858 0.1419 Uncertain 10_24832885_C->T 10 24832885 24832885 C T snp 676.77 0/1 99 74 45 29 0.39 exonic rs3748218 KIAA1217 AU synonymous SNV NM_019590 exon19 c.C4686T p.T1562T 0.278954 0.3988 0.202906 0.2064 0.4240 Uncertain 10_24873369_C->G 10 24873369 24873369 C G snp 1354.77 0/1 99 106 50 56 0.53 exonic rs1127893 ARHGAP21 AU nonsynonymous SNV NM_020824 exon26 c.G5849C p.S1950T 0.492612 0.5883 0.493465 0.5305 0.5780 1 T 0.0 P -0.956 T 0.0 T 0.0 T Pathogenic 10_24878129_G->A 10 24878129 24878129 G A snp 840.77 0/1 99 74 39 35 0.47 intronic rs7478260 ARHGAP21 AU NM_020824 exon2 c.4859-70G>A 0.816094 0.7649 0.824265 Uncertain 10_24879281_A->G 10 24879281 24879281 A G snp 3950.77 1/1 99 142 0 142 1.0 intronic rs10734053 ARHGAP21 AU NM_020824 exon3 c.6813-872A>G 1 1 1 1 Uncertain 10_24885647_C->T 10 24885647 24885647 C T snp 493.77 0/1 99 54 32 22 0.41 intronic rs146100521 ARHGAP21 AU NM_020824 exon10 c.12328-21C>T 0.00219649 0.0109 0.0007 0.0089 0 D 1.000 N -0.992 T Uncertain 10_25231171_A->G 10 25231171 25231171 A G snp 1243.77 1/1 52 41 2 39 0.95 intronic rs3748223 PRTFDC1 AU NM_020200 exon8 c.92486-87A>G 0.386382 0.506 Uncertain 10_25279456_T->C 10 25279456 25279456 T C snp 2186.77 0/1 99 243 146 97 0.4 exonic rs147531808 ENKUR AU nonsynonymous SNV NM_001270383 exon4 c.A344G p.Q115R 0.000798722 0.003 0.000077 0.0006 0.0071 0.58 T 0.967 N -1.045 T 0.009 T 0.012 T Pathogenic 10_25465327_G->A 10 25465327 25465327 G A snp 722.77 0/1 99 44 21 23 0.52 intronic rs11014433 GPR158 AU NM_020752 exon1 c.902+76G>A 0.128794 0.0675 Uncertain 10_25755733_ACAT->- 10 25755733 25755736 ACAT - indel 587.74 1/1 27 11 0 11 1.0 intronic rs55977525 GPR158 AU NM_020752 exon5 c.291299+85_291299+88delACAT Uncertain 10_25861632_C->T 10 25861632 25861632 C T snp 1492.77 0/1 99 133 72 61 0.46 exonic rs56928458 GPR158 AU synonymous SNV NM_020752 exon7 c.C1569T p.G523G 0.0527157 0.253 0.001538 0.0225 0.2584 Uncertain 10_25877860_AAAC->- 10 25877860 25877863 AAAC - indel 3372.73 1/1 99 51 0 51 1.0 intronic rs144466352 GPR158 AU NM_020752 exon8 c.413586-75_413586-72delAAAC 0.251797 0.4911 Uncertain 10_25888180_A->G 10 25888180 25888180 A G snp 2715.77 1/1 99 101 0 101 1.0 exonic rs10828833 GPR158 AU nonsynonymous SNV NM_020752 exon11 c.A3625G p.I1209V 0.663538 0.7579 0.574131 0.5157 0.7634 1 T 0.0 P -0.958 T 0.0 T 0.0 T Pathogenic 10_26310410_T->C 10 26310410 26310410 T C snp 1440.77 0/1 99 155 91 64 0.41 intronic rs3737275 MYO3A AR NM_017433 exon8 c.69392-21T>C 0.469449 0.6181 0.410657 0.5001 0.6173 Uncertain 10_26355992_A->G 10 26355992 26355992 A G snp 1353.77 0/1 99 137 78 59 0.43 exonic rs3824699 MYO3A AR nonsynonymous SNV NM_017433 exon11 c.A1042G p.I348V 0.66274 0.6181 0.682531 0.6786 0.6192 1 T 0.0 P -0.922 T 0.0 T 0.001 T CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000039019.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 10_26357748_G->A 10 26357748 26357748 G A snp 1614.77 0/1 99 140 65 75 0.54 exonic rs3817420 MYO3A AR nonsynonymous SNV NM_017433 exon12 c.G1105A p.V369I 0.66893 0.6181 0.666769 0.6794 0.6180 0.21 T 0.0 P -0.903 T 0.001 T 0.001 T CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000039024.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 10_26409836_C->A 10 26409836 26409836 C A snp 235.77 0/1 86 12 3 9 0.75 intronic rs2275727 MYO3A AR NM_017433 exon18 c.168692+105C>A 0.16873 0.2808 Uncertain 10_26443625_A->C 10 26443625 26443625 A C snp 1442.77 0/1 99 128 67 61 0.48 intronic rs3818957 MYO3A AR NM_017433 exon25 c.202635-49A>C 0.180511 0.2808 0.129863 0.1754 0.3044 Uncertain 10_26443646_G->A 10 26443646 26443646 G A snp 1499.77 0/1 99 141 79 62 0.44 intronic rs3818956 MYO3A AR NM_017433 exon25 c.202635-28G>A 0.682708 0.6359 0.697063 0.6960 0.6400 Uncertain 10_26463130_C->A 10 26463130 26463130 C A snp 2516.77 0/1 99 229 125 104 0.45 exonic rs1999240 MYO3A AR nonsynonymous SNV NM_017433 exon30 c.C3937A p.R1313S 0.601038 0.6329 0.562740 0.5987 0.6378 0.75 T 1.000 P -0.920 T 0.0 T 0.0 T CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000039038.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 10_26512638_-->TG 10 26512638 26512638 - TG indel 399.73 0/1 99 24 12 12 0.5 intronic rs368846977 GAD2 AU NM_001134366 exon5 c.7077-177insTG Uncertain 10_26518418_C->T 10 26518418 26518418 C T snp 229.77 0/1 57 9 2 7 0.78 intronic rs2839675 GAD2 AU NM_001134366 exon7 c.12852-172C>T 0.711062 0.9167 Uncertain 10_26781157_C->T 10 26781157 26781157 C T snp 452.77 0/1 99 51 30 21 0.41 intronic rs74869251 APBB1IP AU 0.0832668 0.0813 Uncertain 10_26781388_G->A 10 26781388 26781388 G A snp 1651.77 1/1 99 58 0 58 1.0 intronic rs1775246 APBB1IP AU NM_019043 exon3 c.72+61G>A 0.846845 0.9087 0.786246 Uncertain 10_26790109_T->C 10 26790109 26790109 T C snp 615.77 0/1 99 50 25 25 0.5 intronic rs787039 APBB1IP AU NM_019043 exon5 c.8785+69T>C 0.0405351 0.1161 0.0263 0.1160 Uncertain 10_26790136_T->A 10 26790136 26790136 T A snp 354.77 0/1 99 34 18 16 0.47 intronic rs812007 APBB1IP AU NM_019043 exon5 c.8785+96T>A 0.240415 0.3631 0.2179 0.3365 Uncertain 10_26822139_G->T 10 26822139 26822139 G T snp 99.28 1/1 9 3 0 3 1.0 intronic rs787053 APBB1IP AU NM_019043 exon9 c.41112-228G>T 0.89976 0.9613 Uncertain 10_26986932_T->C 10 26986932 26986932 T C snp 513.77 0/1 99 52 26 26 0.5 intronic rs2448114 PDSS1 AR NM_014317 exon1 c.129+163T>C 0.631989 0.8194 Uncertain 10_26990674_C->T 10 26990674 26990674 C T snp 59.74 1/1 6 3 0 3 1.0 intronic rs7097696 PDSS1 AR NM_014317 exon2 c.4450-416C>T 0.0634984 0.0724 Uncertain 10_26990849_T->G 10 26990849 26990849 T G snp 109.77 0/1 99 17 12 5 0.29 intronic rs1677726 PDSS1 AR NM_014317 exon2 c.4450-241T>G 0.597444 0.8264 0.6372 0.8309 Uncertain 10_26991037_A->G 10 26991037 26991037 A G snp 609.77 1/1 45 22 0 22 1.0 intronic rs1677725 PDSS1 AR NM_014317 exon2 c.4450-53A>G 0.685703 0.9107 0.406693 Uncertain 10_26991045_T->C 10 26991045 26991045 T C snp 658.77 1/1 48 23 0 23 1.0 intronic rs1780186 PDSS1 AR NM_014317 exon2 c.4450-45T>C 0.685104 0.9107 0.378754 0.5296 0.8433 Uncertain 10_26991068_G->- 10 26991068 26991068 G - indel 208.73 0/1 99 24 17 7 0.29 intronic rs71403882 PDSS1 AR NM_014317 exon2 c.4450-22delG 0.588059 0.8036 0.379501 0.4828 0.7534 Uncertain 10_26991179_G->A 10 26991179 26991179 G A snp 34.77 0/1 63 8 6 2 0.25 intronic rs1780185 PDSS1 AR NM_014317 exon2 c.4483+56G>A 0.601438 0.8175 Uncertain 10_26991182_A->T 10 26991182 26991182 A T snp 148.77 0/1 63 8 2 6 0.75 intronic rs117919256 PDSS1 AR NM_014317 exon2 c.4483+59A>T 0.0499201 0.0734 Uncertain 10_26993390_T->A 10 26993390 26993390 T A snp 56.74 1/1 6 2 0 2 1.0 intronic rs1748354 PDSS1 AR NM_014317 exon3 c.6965-215T>A 0.450679 0.3988 Uncertain 10_26993598_T->- 10 26993598 26993598 T - indel 424.73 0/1 99 30 16 14 0.47 intronic rs34296355 PDSS1 AR NM_014317 exon3 c.6965-7delT 0.23742 0.3095 0.264160 0.3058 0.3224 Uncertain 10_26993725_G->A 10 26993725 26993725 G A snp 120.77 0/1 60 8 2 6 0.75 intronic rs1677730 PDSS1 AR NM_014317 exon3 c.7030+55G>A 0.450479 0.3978 0.511199 Uncertain 10_26993728_G->A 10 26993728 26993728 G A snp 37.77 0/1 66 8 6 2 0.25 intronic rs6482571 PDSS1 AR NM_014317 exon3 c.7030+58G>A 0.324681 0.5754 0.172012 Uncertain 10_26993737_A->T 10 26993737 26993737 A T snp 59.74 1/1 6 4 0 4 1.0 intronic rs1780193 PDSS1 AR NM_014317 exon3 c.7030+67A>T 0.44988 0.3988 Uncertain 10_26994150_A->C 10 26994150 26994150 A C snp 591.77 0/1 99 56 28 28 0.5 intronic rs1780192 PDSS1 AR NM_014317 exon4 c.7574-64A>C 0.450679 0.3988 Uncertain 10_26994345_G->A 10 26994345 26994345 G A snp 46.77 0/1 33 3 1 2 0.67 intronic rs1748356 PDSS1 AR NM_014317 exon4 c.7683+22G>A 0.450679 0.3988 0.509380 0.5496 0.4270 Uncertain 10_26998739_G->C 10 26998739 26998739 G C snp 1478.77 0/1 99 167 101 66 0.4 intronic rs2368183 PDSS1 AR NM_014317 exon5 c.12057+42G>C 0.237819 0.3115 0.262956 0.3052 0.3224 Uncertain 10_27009334_A->G 10 27009334 27009334 A G snp 2353.77 1/1 99 90 0 90 1.0 intronic rs1780196 PDSS1 AR NM_014317 exon6 c.22648+46A>G 0.905351 0.9325 0.880594 0.8795 0.9232 Uncertain 10_27023402_G->A 10 27023402 27023402 G A snp 93.28 1/1 9 3 0 3 1.0 intronic rs16927305 PDSS1 AR NM_014317 exon9 c.37528-766G>A 0.188099 0.2431 Uncertain 10_27024710_G->A 10 27024710 27024710 G A snp 170.9 1/1 15 5 0 5 1.0 intronic rs10741116 PDSS1 AR NM_014317 exon10 c.37868+202G>A 0.686102 0.6974 Uncertain 10_27037768_A->T 10 27037768 27037768 A T snp 322.77 0/1 99 30 17 13 0.43 intronic rs3802611 ABI1 AU NM_001178116 exon1 c.176+94A>T 0.0764776 0.1389 Uncertain 10_27047820_A->G 10 27047820 27047820 A G snp 123.03 1/1 12 4 0 4 1.0 intronic rs1998631 ABI1 AU NM_001178116 exon3 c.10492-170A>G 0.647764 0.623 Uncertain 10_27052620_T->C 10 27052620 27052620 T C snp 117.78 0/1 27 5 1 4 0.8 intronic rs72629720 ABI1 AU NM_001178116 exon4 c.15310-188T>C 0.0782748 0.1399 Uncertain 10_27054375_C->T 10 27054375 27054375 C T snp 141.03 1/1 12 4 0 4 1.0 intronic rs7915128 ABI1 AU NM_001178116 exon5 c.16749+128C>T 0.64377 0.621 Uncertain 10_27057944_G->C 10 27057944 27057944 G C snp 221.77 0/1 99 15 7 8 0.53 intronic rs144555468 ABI1 AU NM_001178116 exon6 c.20423+23G>C 0.00139776 0.0069 0.0004 0.0058 Uncertain 10_27059608_C->T 10 27059608 27059608 C T snp 1137.77 1/1 81 38 0 38 1.0 intronic rs1324637 ABI1 AU NM_001178116 exon7 c.21776+334C>T 0.660743 0.621 Uncertain 10_27128595_-->T 10 27128595 27128595 - T indel 699.73 1/1 57 19 0 19 1.0 intronic ABI1 AU NM_001178116 exon11 c.91163-66insT Uncertain 10_27128635_G->T 10 27128635 27128635 G T snp 616.77 1/1 45 29 2 27 0.93 intronic rs10829091 ABI1 AU NM_001178116 exon11 c.91163-26G>T 0.33726 0.3621 0.3539 0.3258 Uncertain 10_27128828_G->A 10 27128828 27128828 G A snp 86.78 0/1 24 4 1 3 0.75 intronic rs10829092 ABI1 AU NM_001178116 exon11 c.91214+116G>A 0.33726 0.3621 Uncertain 10_27128861_G->A 10 27128861 27128861 G A snp 56.74 1/1 6 2 0 2 1.0 intronic rs10829093 ABI1 AU NM_001178116 exon11 c.91214+149G>A 0.335863 0.3621 Uncertain 10_27149908_G->A 10 27149908 27149908 G A snp 1366.77 0/1 99 109 54 55 0.5 UTR5 rs2296544 ABI1 AU 0.077476 0.1438 Uncertain 10_27294450_AT->- 10 27294450 27294451 AT - indel 848.73 1/1 51 17 0 17 1.0 UTR3 rs3215884 ANKRD26 AD 0.141773 0.2768 Uncertain 10_27303605_A->T 10 27303605 27303605 A T snp 1004.77 1/1 72 36 0 36 1.0 exonic rs2274741 ANKRD26 AD nonsynonymous SNV NM_014915 exon31 c.T4542A p.F1514L 0.317292 0.5506 0.171734 0.2258 0.5563 1 T 0.0 P -0.964 T 0.0 T 0.0 T Pathogenic 10_27303749_G->T 10 27303749 27303749 G T snp 169.9 1/1 15 5 0 5 1.0 intronic rs3818634 ANKRD26 AD NM_001256053 exon4 c.9122+109G>T 0.142772 0.2768 Uncertain 10_27317778_T->C 10 27317778 27317778 T C snp 2575.77 1/1 99 111 0 111 1.0 splicing rs72807627 ANKRD26 AD NM_001256053 exon8 c.23262-2T>C 0.142173 0.2768 0.079501 0.1127 0.2924 Pathogenic 10_27317840_C->T 10 27317840 27317840 C T snp 1950.77 1/1 99 73 0 73 1.0 exonic rs10829163 ANKRD26 AD nonsynonymous SNV NM_014915 exon27 c.G3913A p.V1305I 0.317292 0.5516 0.172270 0.2217 0.5513 1 T 0.0 P -1.016 T 0.0 T 0.001 T Pathogenic 10_27318370_C->T 10 27318370 27318370 C T snp 684.77 1/1 51 21 1 20 0.95 intronic rs10829164 ANKRD26 AD NM_001256053 exon9 c.23767+85C>T 0.317292 0.5516 Uncertain 10_27322373_TA->- 10 27322373 27322374 TA - indel 591.73 1/1 36 14 0 14 1.0 intronic rs35410352 ANKRD26 AD NM_001256053 exon10 c.27788+67_27788+68delTA 0.141973 0.2768 Uncertain 10_27322391_C->T 10 27322391 27322391 C T snp 388.77 1/1 30 11 0 11 1.0 intronic rs12763200 ANKRD26 AD NM_001256053 exon10 c.27788+85C>T 0.141973 0.2768 Uncertain 10_27324781_G->C 10 27324781 27324781 G C snp 730.77 1/1 54 23 0 23 1.0 intronic rs66585308 ANKRD26 AD NM_001256053 exon11 c.30163+100G>C 0.130391 0.2768 Uncertain 10_27325997_T->C 10 27325997 27325997 T C snp 99.28 1/1 9 4 0 4 1.0 intronic rs35564547 ANKRD26 AD NM_001256053 exon12 c.31596-117T>C 0.142372 0.2768 Uncertain 10_27326017_C->T 10 27326017 27326017 C T snp 205.84 1/1 18 8 0 8 1.0 intronic rs66494764 ANKRD26 AD NM_001256053 exon12 c.31596-97C>T 0.142372 0.2768 Uncertain 10_27326999_T->C 10 27326999 27326999 T C snp 1007.77 1/1 75 36 0 36 1.0 intronic rs7096505 ANKRD26 AD NM_001256053 exon13 c.32465+16T>C 0.865216 0.9891 0.828871 0.8408 0.9907 Uncertain 10_27329167_G->A 10 27329167 27329167 G A snp 393.77 1/1 30 14 0 14 1.0 intronic rs10829167 ANKRD26 AD NM_001256053 exon14 c.34589+60G>A 0.316494 0.5516 Uncertain 10_27371463_C->T 10 27371463 27371463 C T snp 222.84 1/1 18 6 0 6 1.0 intronic rs7083768 ANKRD26 AD NM_001256053 exon29 c.77213-268C>T 0.345248 0.5437 Uncertain 10_27375377_A->T 10 27375377 27375377 A T snp 1825.77 1/1 99 71 0 71 1.0 intronic rs10443987 ANKRD26 AD NM_001256053 exon30 c.80949-90A>T 0.873003 0.9881 Uncertain 10_27375559_C->T 10 27375559 27375559 C T snp 530.77 1/1 39 17 0 17 1.0 intronic rs66853312 ANKRD26 AD NM_001256053 exon30 c.81020+21C>T 0.170527 0.2817 0.115722 0.1440 0.2912 Uncertain 10_27375626_A->G 10 27375626 27375626 A G snp 99.28 1/1 9 3 0 3 1.0 intronic rs67629636 ANKRD26 AD NM_001256053 exon30 c.81020+88A>G 0.170527 0.2817 Uncertain 10_27381349_T->C 10 27381349 27381349 T C snp 475.77 1/1 36 17 0 17 1.0 exonic rs2297145 ANKRD26 AD synonymous SNV NM_014915 exon4 c.A624G p.V208V 0.346645 0.5427 0.210105 0.2571 0.5637 Uncertain 10_27382236_C->T 10 27382236 27382236 C T snp 1567.77 1/1 99 43 0 43 1.0 intronic rs2297146 ANKRD26 AD NM_001256053 exon32 c.87759-41C>T 0.169129 0.2817 0.114351 0.1582 0.3116 Uncertain 10_27382528_G->A 10 27382528 27382528 G A snp 3129.77 1/1 99 96 0 96 1.0 intronic rs2297149 ANKRD26 AD NM_001256053 exon32 c.87933+77G>A 0.170727 0.2817 Uncertain 10_27382586_G->C 10 27382586 27382586 G C snp 3297.77 1/1 99 113 0 113 1.0 intronic rs2297150 ANKRD26 AD NM_001256053 exon33 c.88095-27G>C 0.169529 0.2817 0.113865 0.1436 0.2930 Uncertain 10_27389197_T->C 10 27389197 27389197 T C snp 1460.77 1/1 99 46 0 46 1.0 exonic rs7897309 ANKRD26 AD nonsynonymous SNV NM_014915 exon1 c.A59G p.Q20R 0.944688 0.999 0.893455 0.8977 0.9996 1 T 0.000 P -0.984 T 0.0 T 0.0 T Pathogenic 10_27389314_C->T 10 27389314 27389314 C T snp 50.74 1/1 6 2 0 2 1.0 UTR5 rs3737056 ANKRD26 AD 0.129792 0.2778 Uncertain 10_27400661_C->T 10 27400661 27400661 C T snp 137.03 1/1 12 6 0 6 1.0 UTR3 rs3758438 YME1L1 AU 0.130391 0.2798 Uncertain 10_27400861_G->A 10 27400861 27400861 G A snp 1912.77 1/1 99 69 0 69 1.0 UTR3 rs9833 YME1L1 AU 0.872404 0.9881 0.851530 0.8515 0.9913 Uncertain 10_27401056_C->T 10 27401056 27401056 C T snp 2063.77 1/1 99 77 0 77 1.0 intronic rs11015538 YME1L1 AU NM_139312 exon1 c.144+7C>T 0.347244 0.5506 0.220821 0.2536 0.5606 Uncertain 10_27403635_T->C 10 27403635 27403635 T C snp 768.77 1/1 57 28 0 28 1.0 intronic rs12782501 YME1L1 AU NM_139312 exon2 c.2631+99T>C 0.130192 0.2798 Uncertain 10_27404927_G->T 10 27404927 27404927 G T snp 101.28 1/1 9 4 0 4 1.0 intronic rs2297151 YME1L1 AU NM_139312 exon3 c.4083-61G>T 0.347244 0.5506 0.213846 Uncertain 10_27405096_A->G 10 27405096 27405096 A G snp 1890.77 1/1 99 70 0 70 1.0 intronic rs2297152 YME1L1 AU NM_139312 exon3 c.4157+34A>G 0.347045 0.5496 0.220821 0.2532 0.5597 Uncertain 10_27405310_C->G 10 27405310 27405310 C G snp 1008.77 1/1 72 35 0 35 1.0 intronic rs2480718 YME1L1 AU NM_139312 exon4 c.4369+36C>G 0.997604 1 0.992149 0.9934 0.9999 Uncertain 10_27405360_-->C 10 27405360 27405360 - C indel 507.73 1/1 39 14 0 14 1.0 intronic rs35804170 YME1L1 AU NM_139312 exon4 c.4369+86insC 0.348842 0.5506 Uncertain 10_27409555_G->A 10 27409555 27409555 G A snp 3679.77 1/1 99 143 0 143 1.0 intronic rs10829190 YME1L1 AU NM_139312 exon7 c.8571+79G>A 0.852636 0.9881 Uncertain 10_27412669_A->T 10 27412669 27412669 A T snp 782.77 1/1 57 25 0 25 1.0 intronic rs2274743 YME1L1 AU NM_139312 exon10 c.11723+41A>T 0.340056 0.5308 0.197664 0.2527 0.5592 Uncertain 10_27415906_C->A 10 27415906 27415906 C A snp 56.74 1/1 6 2 0 2 1.0 intronic rs10829192 YME1L1 AU NM_139312 exon11 c.14810+191C>A 0.347244 0.5506 Uncertain 10_27423744_T->C 10 27423744 27423744 T C snp 2725.77 1/1 99 108 0 108 1.0 intronic rs2275752 YME1L1 AU NM_139312 exon14 c.22854-15T>C 0.280351 0.4018 0.219086 0.2162 0.4102 Uncertain 10_27425442_G->A 10 27425442 27425442 G A snp 123.03 1/1 12 4 0 4 1.0 intronic rs10829194 YME1L1 AU NM_139312 exon15 c.24409+128G>A 0.280152 0.4018 Uncertain 10_27434483_G->A 10 27434483 27434483 G A snp 1660.77 1/1 99 67 0 67 1.0 exonic rs2274634 YME1L1 AU synonymous SNV NM_001253866 exon3 c.C205T p.L69L 0.348842 0.5506 0.222855 0.2540 0.5610 Uncertain 10_27437665_T->C 10 27437665 27437665 T C snp 176.9 1/1 15 5 0 5 1.0 intronic rs11015571 YME1L1 AU NM_139312 exon19 c.36929-169T>C 0.347244 0.5506 Uncertain 10_27437964_T->C 10 27437964 27437964 T C snp 2739.77 1/1 99 90 0 90 1.0 exonic rs11538750 YME1L1 AU synonymous SNV NM_001253866 exon2 c.A39G p.T13T 0.129992 0.2798 0.064586 0.1063 0.2911 Uncertain 10_27437994_C->T 10 27437994 27437994 C T snp 1220.77 1/1 90 38 0 38 1.0 intronic rs10764675 YME1L1 AU NM_139312 exon19 c.37064+25C>T 0.347244 0.5506 0.219668 0.2537 0.5601 Uncertain 10_27442121_A->G 10 27442121 27442121 A G snp 1811.77 1/1 99 71 0 71 1.0 intronic rs57671772 YME1L1 AU NM_139312 exon20 c.42201-985A>G 0.13758 0.2798 0.1177 0.2942 Uncertain 10_27443012_A->G 10 27443012 27443012 A G snp 2055.77 1/1 99 77 0 77 1.0 intronic rs2274636 YME1L1 AU NM_139312 exon20 c.42201-94A>G 0.128395 0.2798 Uncertain 10_27443083_A->T 10 27443083 27443083 A T snp 2693.77 1/1 99 97 0 97 1.0 intronic rs2274637 YME1L1 AU NM_139312 exon20 c.42201-23A>T 0.128395 0.2798 0.059994 0.1551 0.3736 Uncertain 10_27444329_T->C 10 27444329 27444329 T C snp 798.77 1/1 60 24 0 24 1.0 UTR5 rs7907981 MASTL AD 0.815495 0.9841 0.632427 0.8129 0.9858 Uncertain 10_27444344_T->G 10 27444344 27444344 T G snp 1166.77 1/1 84 34 0 34 1.0 UTR5 rs7907988 MASTL AD 0.855232 0.9881 0.840664 0.8570 0.9901 Uncertain 10_27456003_G->A 10 27456003 27456003 G A snp 1521.77 1/1 99 53 0 53 1.0 intronic rs788238 MASTL AD NM_032844 exon7 c.11675-27G>A 0.991014 1 0.993157 0.9979 1 Uncertain 10_27506854_C->T 10 27506854 27506854 C T snp 1494.77 1/1 99 42 0 42 1.0 intronic rs1775355 ACBD5 AU NM_145698 exon7 c.20550-54C>T 0.991014 1 Uncertain 10_27508837_T->C 10 27508837 27508837 T C snp 1781.77 1/1 99 56 0 56 1.0 intronic rs788213 ACBD5 AU NM_145698 exon8 c.22428+51T>C 0.991014 1 0.993079 0.9979 1 Uncertain 10_27523967_G->A 10 27523967 27523967 G A snp 1067.77 1/1 78 31 0 31 1.0 intronic rs534226 ACBD5 AU NM_145698 exon11 c.37662-53G>A 0.200879 0.3284 Uncertain 10_27529565_T->C 10 27529565 27529565 T C snp 7095.77 1/1 99 250 0 250 1.0 intronic rs2489372 ACBD5 AU NM_145698 exon13 c.43244-37T>C 0.952676 0.995 0.9626 0.9924 Uncertain 10_27538942_T->C 10 27538942 27538942 T C snp 1571.77 1/1 99 54 0 54 1.0 ncRNA_exonic rs590142 LRRC37A6P AU 0.289736 0.4732 0.192948 0.2578 0.4707 Uncertain 10_27570130_C->T 10 27570130 27570130 C T snp 77.28 1/1 9 10 0 10 1.0 intergenic rs1252880 LRRC37A6P AU 0.92492 0.9831 Uncertain 10_27577568_G->A 10 27577568 27577568 G A snp 2256.77 1/1 99 84 0 84 1.0 intergenic LRRC37A6P AU 0.925719 0.998 Uncertain 10_27687775_T->C 10 27687775 27687775 T C snp 7127.77 1/1 99 250 0 250 1.0 exonic PTCHD3 AU nonsynonymous SNV NM_001034842 exon4 c.A1752G p.I584M 0.97504 0.997 0.960403 0.9705 0.9965 1 T 0.0 P -0.929 T Pathogenic 10_27692062_T->C 10 27692062 27692062 T C snp 506.77 1/1 39 14 0 14 1.0 intronic rs2429491 PTCHD3 AU NM_001034842 exon2 c.4918-78T>C 0.432109 0.5417 Uncertain 10_27692099_A->G 10 27692099 27692099 A G snp 1382.77 1/1 99 41 0 41 1.0 intronic rs2484179 PTCHD3 AU NM_001034842 exon2 c.4918-41A>G 0.432508 0.5427 0.404044 0.4010 0.5194 Uncertain 10_27692205_G->A 10 27692205 27692205 G A snp 4416.77 1/1 99 163 0 163 1.0 exonic rs11015742 PTCHD3 AU synonymous SNV NM_001034842 exon3 c.C1293T p.G431G 0.121206 0.371 0.033677 0.0791 0.3607 Uncertain 10_27692279_A->C 10 27692279 27692279 A C snp 4377.77 1/1 99 164 0 164 1.0 exonic rs2484180 PTCHD3 AU nonsynonymous SNV NM_001034842 exon3 c.T1219G p.C407G 0.431909 0.5417 0.416500 0.3985 0.5172 0.08 T 0.000 P -0.891 T 0.257 T 0.27 T Pathogenic 10_27692371_T->G 10 27692371 27692371 T G snp 2088.77 1/1 99 68 0 68 1.0 intronic rs2484181 PTCHD3 AU NM_001034842 exon2 c.5064+85T>G 0.432308 0.5427 Uncertain 10_27692403_C->A 10 27692403 27692403 C A snp 1123.77 1/1 84 38 0 38 1.0 intronic rs2505307 PTCHD3 AU NM_001034842 exon2 c.5064+117C>A 0.401158 0.5417 Uncertain 10_27700887_G->A 10 27700887 27700887 G A snp 675.77 1/1 48 28 0 28 1.0 intronic rs2429499 PTCHD3 AU NM_001034842 exon3 c.13636+29G>A 0.762979 0.9841 0.670640 0.7413 0.9859 Uncertain 10_27701920_C->T 10 27701920 27701920 C T snp 378.77 1/1 30 10 0 10 1.0 intronic rs11015752 PTCHD3 AU NM_001034842 exon4 c.14868-170C>T 0.118411 0.3601 Uncertain 10_27822620_TC->- 10 27822620 27822621 TC - indel 176.73 0/1 99 16 11 5 0.31 intronic rs72201756 RAB18 AR NM_001256415 exon4 c.29365-43_29365-42delTC 0.327476 0.1905 0.443253 0.4229 0.1628 Uncertain 10_27964134_T->C 10 27964134 27964134 T C snp 2782.77 1/1 99 102 0 102 1.0 UTR3 rs17756631 MKX AU 0.128395 0.3442 0.040212 0.0960 0.3113 Uncertain 10_28007338_C->T 10 28007338 28007338 C T snp 77.77 0/1 30 4 1 3 0.75 intronic rs11015966 MKX AU NM_001242702 exon3 c.59227-16046C>T 0.160942 0.3323 Uncertain 10_28032136_C->T 10 28032136 28032136 C T snp 657.77 0/1 99 58 30 28 0.48 intronic rs2252651 MKX AU NM_001242702 exon6 c.67999-20C>T 0.576677 0.4226 0.695084 0.7331 0.4922 Uncertain 10_28151605_T->- 10 28151605 28151605 T - indel 581.73 0/1 99 59 29 30 0.51 intronic rs34181914 ARMC4 AR NM_018076 exon3 c.50111+54delT 0.475639 0.4117 Uncertain 10_28225897_G->T 10 28225897 28225897 G T snp 706.77 0/1 99 55 27 28 0.51 intronic rs2297646 ARMC4 AR NM_018076 exon6 c.124369+88G>T 0.66234 0.505 Uncertain 10_28228865_A->G 10 28228865 28228865 A G snp 1853.77 0/1 99 162 78 84 0.52 exonic rs7893462 ARMC4 AR synonymous SNV NM_018076 exon14 c.T2058C p.N686N 0.533147 0.5 0.508073 0.5364 0.5453 Uncertain 10_28233120_A->C 10 28233120 28233120 A C snp 186.77 0/1 99 31 23 8 0.26 intronic rs3824590 ARMC4 AR NM_018076 exon9 c.131710-30A>C 0.558706 0.505 0.530317 0.5933 0.6000 Uncertain 10_28233469_T->A 10 28233469 28233469 T A snp 189.77 0/1 99 12 5 7 0.58 intronic rs3802517 ARMC4 AR NM_018076 exon9 c.131920+109T>A 0.388778 0.3284 Uncertain 10_28233931_G->A 10 28233931 28233931 G A snp 1969.77 0/1 99 187 109 78 0.42 intronic rs34717952 ARMC4 AR NM_018076 exon10 c.132451+40G>A 0.483227 0.5 0.385822 0.5203 0.5429 Uncertain 10_28233933_A->G 10 28233933 28233933 A G snp 1929.77 0/1 99 182 108 74 0.41 intronic rs34084011 ARMC4 AR NM_018076 exon10 c.132451+42A>G 0.558706 0.505 0.472551 0.5454 0.5466 Uncertain 10_28247691_T->C 10 28247691 28247691 T C snp 78.77 0/1 69 5 2 3 0.6 intronic rs4590766 ARMC4 AR NM_018076 exon11 c.149056-2805T>C 0.586062 0.505 Uncertain 10_28247957_A->C 10 28247957 28247957 A C snp 932.77 0/1 99 58 21 37 0.64 intronic rs34350686 ARMC4 AR NM_018076 exon11 c.149056-2539A>C 0.346246 0.3125 Uncertain 10_28259940_C->T 10 28259940 28259940 C T snp 154.77 0/1 97 8 3 5 0.63 intronic rs7072798 ARMC4 AR NM_018076 exon13 c.158596-96C>T Uncertain 10_28260151_A->G 10 28260151 28260151 A G snp 1064.77 0/1 99 114 71 43 0.38 exonic rs4405206 ARMC4 AR nonsynonymous SNV NM_018076 exon8 c.T1028C p.I343T 0.134784 0.252 0.072736 0.0863 0.2852 0.4 T 0.0 P -1.020 T 0.017 T 0.013 T Pathogenic 10_28346584_G->A 10 28346584 28346584 G A snp 148.77 0/1 99 13 6 7 0.54 intronic rs12217744 MPP7 AU NM_173496 exon3 c.4430-839G>A 0.319089 0.5625 Uncertain 10_28346629_-->GT 10 28346629 28346629 - GT indel 531.73 0/1 99 30 17 13 0.43 intronic rs76671899 MPP7 AU NM_173496 exon3 c.4430-794insGT 0.381789 0.5615 Uncertain 10_28348815_C->T 10 28348815 28348815 C T snp 139.03 1/1 12 4 0 4 1.0 intronic rs1361922 MPP7 AU NM_173496 exon4 c.5679+143C>T 0.758586 0.9921 Uncertain 10_28358659_C->T 10 28358659 28358659 C T snp 1057.77 1/1 78 35 0 35 1.0 intronic rs7919895 MPP7 AU NM_173496 exon5 c.15707-41C>T 0.517572 0.9534 0.242119 0.3762 0.9512 Uncertain 10_28378613_G->A 10 28378613 28378613 G A snp 2664.77 0/1 99 247 118 129 0.52 exonic rs11006853 MPP7 AU synonymous SNV NM_173496 exon14 c.C1110T p.L370L 0.152556 0.253 0.093265 0.0961 0.2763 Uncertain 10_28378758_T->C 10 28378758 28378758 T C snp 2092.77 1/1 99 67 0 67 1.0 exonic rs2997211 MPP7 AU nonsynonymous SNV NM_173496 exon14 c.A965G p.K322R 0.931709 0.9593 0.900738 0.9092 0.9548 0.71 T 0.001 P -0.949 T 0.0 T 0.0 T Pathogenic 10_28408383_C->T 10 28408383 28408383 C T snp 54.74 1/1 6 2 0 2 1.0 intronic rs7898482 MPP7 AU NM_173496 exon7 c.65586-196C>T 0.376997 0.7728 Uncertain 10_28408538_C->T 10 28408538 28408538 C T snp 1937.77 1/1 99 72 0 72 1.0 intronic rs10047289 MPP7 AU NM_173496 exon7 c.65586-41C>T 0.376797 0.7728 0.157773 0.2526 0.7756 Uncertain 10_28408756_A->C 10 28408756 28408756 A C snp 308.77 0/1 99 23 10 13 0.57 intronic rs11006883 MPP7 AU NM_173496 exon7 c.65651+112A>C 0.205272 0.4692 Uncertain 10_28409054_C->T 10 28409054 28409054 C T snp 383.77 1/1 30 11 0 11 1.0 intronic rs10763644 MPP7 AU NM_173496 exon8 c.66129-68C>T 0.457268 0.8839 Uncertain 10_28409614_C->G 10 28409614 28409614 C G snp 4322.77 1/1 99 146 0 146 1.0 intronic rs7903192 MPP7 AU NM_173496 exon9 c.66604+17C>G 0.400759 0.7728 0.195756 0.2627 0.7760 Uncertain 10_28436534_A->G 10 28436534 28436534 A G snp 2672.77 0/1 99 218 103 115 0.53 intronic rs11006897 MPP7 AU NM_173496 exon13 c.93499+42A>G 0.229034 0.3532 0.171998 0.2072 0.3851 Uncertain 10_28438836_CTGCA->- 10 28438836 28438840 CTGCA - indel 1148.73 0/1 99 35 19 16 0.46 intronic rs146337753 MPP7 AU NM_173496 exon14 c.95917-74_95917-70delCTGCA 0.236821 0.3581 Uncertain 10_28527279_T->C 10 28527279 28527279 T C snp 65.77 0/1 94 9 6 3 0.33 intronic rs2290701 MPP7 AU NM_173496 exon16 c.184503-217T>C 0.396565 0.5427 Uncertain 10_28822373_A->C 10 28822373 28822373 A C snp 857.77 1/1 63 23 0 23 1.0 upstream rs12767429 WAC AD 1 1 Uncertain 10_28823126_G->A 10 28823126 28823126 G A snp 119.77 0/1 99 9 4 5 0.56 intronic rs35136724 WAC AD NM_016628 exon2 c.455+163G>A 0.194289 0.2401 0.3931 0.3811 Uncertain 10_28879838_A->G 10 28879838 28879838 A G snp 318.77 0/1 99 32 19 13 0.41 intronic rs41283724 WAC AD NM_016628 exon6 c.57253+77A>G 0.196086 0.2411 Uncertain 10_28899818_T->C 10 28899818 28899818 T C snp 818.77 0/1 99 76 38 38 0.5 intronic rs181119889 WAC AD NM_016628 exon9 c.77242+68T>C 0.00299521 0.0149 Uncertain 10_28899841_-->T 10 28899841 28899841 - T indel 170.73 0/1 99 39 13 26 0.67 intronic rs11371837 WAC AD NM_016628 exon9 c.77242+91insT 0.564497 0.6052 Uncertain 10_28903400_-->TCTTCTTTAAAACA 10 28903400 28903400 - TCTTCTTTAAAACA indel 2928.73 1/1 51 17 0 17 1.0 intronic rs71391055 WAC AD NM_016628 exon11 c.80987-95insTCTTCTTTAAAACA 0.879393 0.9395 Uncertain 10_28903771_G->A 10 28903771 28903771 G A snp 140.77 0/1 98 8 3 5 0.63 intronic rs332174 WAC AD NM_016628 exon11 c.81106+157G>A 0.649161 0.6905 Uncertain 10_29136129_A->G 10 29136129 29136129 A G snp 3934.77 1/1 99 144 0 144 1.0 UTR5 rs813935 C10orf126 AU 0.967252 1 0.9972 1 Uncertain 10_29137085_C->T 10 29137085 29137085 C T snp 167.9 1/1 15 5 0 5 1.0 intronic rs787323 C10orf126 AU NM_001278522 exon3 c.975-59C>T 0.516174 0.6964 Uncertain 10_29162312_T->C 10 29162312 29162312 T C snp 67.77 0/1 96 7 4 3 0.43 intronic rs56249431 C10orf126 AU NM_001278522 exon4 c.26051+92T>C 0.0902556 0.0159 Uncertain 10_29577894_C->T 10 29577894 29577894 C T snp 54.74 1/1 6 2 0 2 1.0 upstream rs1410066 LYZL1 AU 0.676717 0.7897 Uncertain 10_29577924_G->C 10 29577924 29577924 G C snp 176.9 1/1 15 5 0 5 1.0 upstream rs2768670 LYZL1 AU 0.676717 0.7897 Uncertain 10_29578084_A->G 10 29578084 29578084 A G snp 1394.77 1/1 99 54 0 54 1.0 exonic rs2532753 LYZL1 AU nonsynonymous SNV NM_032517 exon1 c.A38G p.K13R 0.676917 0.7897 0.6467 0.7987 0.4 T 0.008 P -0.957 T 0.877 T 0.461 P Pathogenic 10_29578180_-->TGAAGCCAACTGTCTC 10 29578180 29578180 - TGAAGCCAACTGTCTC indel 3981.73 1/1 69 24 0 24 1.0 intronic rs368305285 LYZL1 AU NM_032517 exon1 c.113+21insTGAAGCCAACTGTCTC 0.484824 0.6458 0.203711 0.0018 0.0038 Uncertain 10_29578351_T->C 10 29578351 29578351 T C snp 371.77 1/1 33 12 1 11 0.92 intronic rs2768693 LYZL1 AU NM_032517 exon1 c.113+192T>C Uncertain 10_29580735_C->T 10 29580735 29580735 C T snp 407.77 0/1 99 49 29 20 0.41 intronic rs2148901 LYZL1 AU NM_032517 exon2 c.2725-36C>T 0.802316 0.874 0.7265 0.7913 Uncertain 10_29580743_G->A 10 29580743 29580743 G A snp 444.77 0/1 99 54 33 21 0.39 intronic rs2148902 LYZL1 AU NM_032517 exon2 c.2725-28G>A 0.757388 0.8343 0.6982 0.7710 Uncertain 10_29580944_C->A 10 29580944 29580944 C A snp 39.74 1/1 6 20 1 19 0.95 intronic rs1774948 LYZL1 AU NM_032517 exon2 c.2889+9C>A 0.125599 0.1766 0.0010 0.0005 Uncertain 10_29581254_A->G 10 29581254 29581254 A G snp 174.9 1/1 15 5 0 5 1.0 intronic rs1751954 LYZL1 AU NM_032517 exon3 c.3401-193A>G 0.457867 0.5149 Uncertain 10_29581309_C->T 10 29581309 29581309 C T snp 1941.77 1/1 99 61 0 61 1.0 intronic rs1751955 LYZL1 AU NM_032517 exon3 c.3401-138C>T 0.486022 0.5208 Uncertain 10_29581440_C->T 10 29581440 29581440 C T snp 7590.77 1/1 99 250 0 250 1.0 intronic rs3818550 LYZL1 AU NM_032517 exon3 c.3401-7C>T 0.376797 0.5159 0.353222 0.4096 0.5372 Uncertain 10_29598896_A->G 10 29598896 29598896 A G snp 5254.77 1/1 99 173 0 173 1.0 intronic rs2796293 LYZL1 AU NM_032517 exon4 c.20992-142A>G 0.972045 0.999 Uncertain 10_29747417_C->T 10 29747417 29747417 C T snp 2284.77 0/1 99 202 102 100 0.5 exonic rs1887465 SVIL AU synonymous SNV NM_003174 exon35 c.G5226A p.P1742P 0.359425 0.5565 0.241811 0.3026 0.5518 Uncertain 10_29747618_T->A 10 29747618 29747618 T A snp 211.77 0/1 99 45 35 10 0.22 ncRNA_intronic rs7098527 SVIL-AS1 AU 0.409944 0.5575 Uncertain 10_29751183_A->C 10 29751183 29751183 A C snp 627.77 0/1 99 41 20 21 0.51 ncRNA_intronic SVIL-AS1 AU Uncertain 10_29751468_C->T 10 29751468 29751468 C T snp 489.77 0/1 99 37 20 17 0.46 ncRNA_intronic rs2094204 SVIL-AS1 AU 0.359425 0.5565 Uncertain 10_29754609_T->C 10 29754609 29754609 T C snp 606.77 0/1 99 31 9 22 0.71 exonic rs1057952 SVIL AU synonymous SNV NM_003174 exon32 c.A4770G p.T1590T 0.423123 0.5625 0.356758 0.3965 0.5535 Uncertain 10_29759175_G->- 10 29759175 29759175 G - indel 684.73 0/1 99 90 63 27 0.3 ncRNA_intronic rs3215848 SVIL-AS1 AU 0.419529 0.5595 0.3927 0.5512 Uncertain 10_29759225_A->G 10 29759225 29759225 A G snp 1614.77 0/1 99 190 120 70 0.37 exonic rs11007607 SVIL AU synonymous SNV NM_003174 exon30 c.T4545C p.A1515A 0.247204 0.2391 0.230970 0.2266 0.2380 Uncertain 10_29759434_C->T 10 29759434 29759434 C T snp 806.77 0/1 99 67 38 29 0.43 ncRNA_intronic rs2274493 SVIL-AS1 AU 0.159744 0.2381 0.087806 0.1240 0.2381 Uncertain 10_29760209_C->T 10 29760209 29760209 C T snp 572.77 0/1 99 43 17 26 0.6 ncRNA_intronic rs2274494 SVIL-AS1 AU 0.422324 0.5516 0.361769 0.4326 0.5726 Uncertain 10_29762656_G->A 10 29762656 29762656 G A snp 30.77 0/1 59 5 3 2 0.4 ncRNA_intronic rs2281948 SVIL-AS1 AU 0.0806709 0.2371 Uncertain 10_29762997_C->G 10 29762997 29762997 C G snp 823.77 0/1 99 54 23 31 0.57 ncRNA_intronic rs932794 SVIL-AS1 AU 0.409345 0.5585 Uncertain 10_29769589_C->T 10 29769589 29769589 C T snp 1272.77 0/1 99 88 39 49 0.56 exonic rs61737920 SVIL AU nonsynonymous SNV NM_003174 exon27 c.G3976A p.V1326I 0.0625 0.0347 0.068276 0.0691 0.0502 0.51 T 0.0 P -1.040 T 0.012 T 0.012 T Pathogenic 10_29774973_AATGTGGTTTCTCACTGA->- 10 29774973 29774990 AATGTGGTTTCTCACTGA - indel 1114.73 0/1 99 16 10 6 0.38 ncRNA_intronic rs146297581 SVIL-AS1 AU 0.0638978 0.2381 0.005990 Uncertain 10_29774991_A->C 10 29774991 29774991 A C snp 197.77 0/1 99 24 17 7 0.29 ncRNA_intronic rs2274495 SVIL-AS1 AU Uncertain 10_29779774_A->T 10 29779774 29779774 A T snp 47.77 0/1 76 177 152 25 0.14 splicing SVIL AU NM_021738 exon17 c.32600-1A>T 1 D Pathogenic 10_29779789_C->T 10 29779789 29779789 C T snp 246.77 0/1 99 210 170 40 0.19 exonic rs757300194 SVIL AU nonsynonymous SNV NM_003174 exon20 c.G2901A p.M967I 0.0030 0.0003 0.15 T 1.000 D -0.383 T 0.04 T 0.014 T ID=COSM3358725;OCCURENCE=1(kidney) Pathogenic 10_29779847_A->C 10 29779847 29779847 A C snp 1210.77 0/1 99 248 160 88 0.35 exonic rs199726033 SVIL AU nonsynonymous SNV NM_003174 exon20 c.T2843G p.L948R 0.2142 0.1163 0 D 0.996 D 0.589 D 0.991 D 0.926 D Pathogenic 10_29779977_A->G 10 29779977 29779977 A G snp 550.77 0/1 99 72 42 30 0.42 intronic rs61848920 SVIL AU NM_021738 exon17 c.32773+29A>G 0.2386 0.1837 Uncertain 10_29783908_A->G 10 29783908 29783908 A G snp 1315.77 0/1 99 188 129 59 0.31 exonic rs78773460 SVIL AU nonsynonymous SNV NM_003174 exon18 c.T2498C p.M833T 0.1765 0.0965 0.16 T 0.999 D -0.987 T 0.835 T 0.497 P Pathogenic 10_29783985_AAACT->- 10 29783985 29783989 AAACT - indel 4058.73 0/1 99 158 91 67 0.42 intronic rs3031505 SVIL AU NM_021738 exon20 c.36845-35_36845-31delAAACT 0.530351 0.628 0.1103 0.1343 Uncertain 10_29784003_G->A 10 29784003 29784003 G A snp 995.77 0/1 99 158 107 51 0.32 intronic rs7904048 SVIL AU NM_021738 exon20 c.36845-17G>A 0.126597 0.0645 0.1231 0.0839 Uncertain 10_29784004_G->A 10 29784004 29784004 G A snp 2093.77 0/1 99 157 52 105 0.67 intronic rs28427082 SVIL AU NM_021738 exon20 c.36845-16G>A 0.44349 0.3512 0.4756 0.4340 Uncertain 10_29784013_C->T 10 29784013 29784013 C T snp 146.77 0/1 99 157 139 18 0.11 intronic rs12266126 SVIL AU NM_021738 exon20 c.36845-7C>T 0.0461262 0.0258 0.014070 0.0188 0.0340 Uncertain 10_29784072_G->C 10 29784072 29784072 G C snp 804.77 0/1 99 94 54 40 0.43 exonic rs2368406 SVIL AU nonsynonymous SNV NM_003174 exon17 c.C2425G p.P809A 0.7510 0.6026 0.1 T 1.000 P -0.976 T 0.968 D 0.853 D Pathogenic 10_29784114_T->C 10 29784114 29784114 T C snp 1288.77 1/1 99 59 0 59 1.0 splicing rs6481601 SVIL AU NM_021738 exon20 c.36935+4T>C 0.780152 0.7014 0.8675 0.7986 Pathogenic 10_29812602_G->T 10 29812602 29812602 G T snp 2401.77 0/1 99 183 92 91 0.5 exonic rs7070678 SVIL AU synonymous SNV NM_003174 exon13 c.C1663A p.R555R 0.382388 0.0804 0.455943 0.3909 0.0868 Uncertain 10_29818604_A->C 10 29818604 29818604 A C snp 595.77 0/1 99 47 23 24 0.51 intronic rs913035 SVIL AU NM_021738 exon27 c.71458-29A>C 0.272165 0.0823 0.343303 0.3037 0.0886 Uncertain 10_29818827_C->T 10 29818827 29818827 C T snp 702.77 0/1 99 54 26 28 0.52 intronic rs3780843 SVIL AU NM_021738 exon27 c.71598+54C>T 0.261382 0.0754 Uncertain 10_29820070_G->A 10 29820070 29820070 G A snp 257.77 0/1 99 26 16 10 0.38 intronic rs11819202 SVIL AU NM_021738 exon29 c.73007-112G>A 0.267772 0.0764 Uncertain 10_29821089_C->T 10 29821089 29821089 C T snp 787.77 0/1 99 64 34 30 0.47 intronic rs17756919 SVIL AU NM_021738 exon30 c.73926-12C>T 0.286741 0.0764 0.388359 0.3524 0.0832 Uncertain 10_29821523_T->C 10 29821523 29821523 T C snp 2075.77 0/1 99 167 82 85 0.51 intronic rs1328323 SVIL AU NM_021738 exon31 c.74282+66T>C 0.297324 0.0764 0.412348 0.3784 0.0834 Uncertain 10_29822032_C->T 10 29822032 29822032 C T snp 3445.77 1/1 99 115 0 115 1.0 intronic rs1247696 SVIL AU NM_021738 exon31 c.75212-355C>T 0.993211 1 0.987621 0.9860 1 0.0 P -1.000 T 0.0 T 0.0 T Uncertain 10_29822159_T->C 10 29822159 29822159 T C snp 2149.77 0/1 99 209 114 95 0.45 intronic rs7076239 SVIL AU NM_021738 exon31 c.75212-228T>C 0.310703 0.0823 0.418115 0.3883 0.0914 Uncertain 10_29839864_A->C 10 29839864 29839864 A C snp 2893.77 0/1 99 249 134 115 0.46 exonic rs1270874 SVIL AU synonymous SNV NM_003174 exon8 c.T489G p.A163A 0.727835 0.8224 0.703752 0.7360 0.8368 Uncertain 10_29891321_T->C 10 29891321 29891321 T C snp 448.77 0/1 99 29 14 15 0.52 intronic rs2505901 SVIL AU NM_021738 exon38 c.176173-32027T>C 0.402556 0.2252 0.486893 0.4921 0.2472 Uncertain 10_29932841_C->T 10 29932841 29932841 C T snp 422.77 0/1 99 27 9 18 0.67 intronic rs2488690 SVIL AU NM_021738 exon38 c.176726+8940C>T 0.376997 0.3591 Uncertain 10_29932918_G->A 10 29932918 29932918 G A snp 918.77 0/1 99 83 45 38 0.46 intronic rs2488689 SVIL AU NM_021738 exon38 c.176726+9017G>A 0.443091 0.3581 0.481514 0.4354 0.3829 Uncertain 10_30306804_G->A 10 30306804 30306804 G A snp 827.77 0/1 99 94 53 41 0.44 UTR3 rs2478839 KIAA1462 AU 0.264377 0.1964 0.340886 0.3816 0.1919 Uncertain 10_30315078_C->T 10 30315078 30315078 C T snp 3251.77 0/1 99 250 116 134 0.54 exonic KIAA1462 AU synonymous SNV NM_020848 exon3 c.G3999A p.P1333P ID=COSM1560812;OCCURENCE=1(large_intestine) Likely pathogenic 10_30315678_T->C 10 30315678 30315678 T C snp 1231.77 0/1 99 90 43 47 0.52 exonic rs550784826 KIAA1462 AU synonymous SNV NM_020848 exon3 c.A3399G p.A1133A 0.000199681 0.001 0.0002 0.0024 Uncertain 10_30316072_C->G 10 30316072 30316072 C G snp 2429.77 0/1 99 206 105 101 0.49 exonic rs3739998 KIAA1462 AU nonsynonymous SNV NM_020848 exon3 c.G3005C p.S1002T 0.251797 0.1825 0.328218 0.3692 0.1731 0.63 T 0.0 P -0.914 T 0.058 T 0.025 T ID=CM1111740;DIS=Coronary artery disease, association with;TAG=DP;PUB=21088011 DP Pathogenic 10_30317949_C->T 10 30317949 30317949 C T snp 2253.77 0/1 99 190 96 94 0.49 exonic rs2478835 KIAA1462 AU synonymous SNV NM_020848 exon3 c.G1128A p.P376P 0.255192 0.1935 0.322830 0.3759 0.1902 Uncertain 10_30611614_C->T 10 30611614 30611614 C T snp 717.77 1/1 54 19 0 19 1.0 intronic rs2484284 MTPAP AR NM_018109 exon4 c.9009+68C>T 0.998802 1 Uncertain 10_30615638_A->G 10 30615638 30615638 A G snp 212.84 1/1 18 7 0 7 1.0 intronic rs1029172 MTPAP AR NM_018109 exon5 c.13027+74A>G 0.941693 0.9931 Uncertain 10_30629082_C->T 10 30629082 30629082 C T snp 807.77 1/1 60 24 0 24 1.0 intronic rs2689215 MTPAP AR NM_018109 exon7 c.26617-72C>T 0.943291 0.9931 Uncertain 10_30629136_G->A 10 30629136 30629136 G A snp 1236.77 0/1 99 98 51 47 0.48 intronic rs1047988 MTPAP AR NM_018109 exon7 c.26617-18G>A 0.225639 0.2103 0.269183 0.2602 0.2394 CLINSIG=non-pathogenic;CLNDBN=not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000126860.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Uncertain 10_30629226_G->A 10 30629226 30629226 G A snp 2740.77 0/1 99 232 114 118 0.51 exonic rs1047991 MTPAP AR nonsynonymous SNV NM_018109 exon3 c.C484T p.R162C 0.21845 0.2103 0.262264 0.2500 0.2267 0.07 T 0.0 P -1.054 T 0.025 T 0.004 T CLINSIG=probable-non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=no_assertion_criteria_provided|criteria_provided\x2c_single_submitter;CLNACC=RCV000117635.2|RCV000126859.1;CLNDSDB=MedGen|MedGen;CLNDSDBID=CN169374|CN221809 Pathogenic 10_30629435_TATTT->- 10 30629435 30629439 TATTT - indel 1161.73 0/1 99 40 14 26 0.65 intronic rs36002941 MTPAP AR NM_018109 exon7 c.26842+56_26842+60delTATTT 0.186502 0.2103 Uncertain 10_30749895_G->A 10 30749895 30749895 G A snp 503.77 1/1 39 13 0 13 1.0 UTR3 rs3034 MAP3K8 AU 0.882987 0.9514 Uncertain 10_30915618_G->A 10 30915618 30915618 G A snp 701.77 0/1 99 44 23 21 0.48 intronic rs3852488 LYZL2 AU NM_183058 exon4 c.14822-87G>A Uncertain 10_30915637_A->G 10 30915637 30915637 A G snp 1081.77 0/1 99 79 39 40 0.51 intronic rs3864847 LYZL2 AU NM_183058 exon4 c.14822-68A>G Uncertain 10_30915699_A->G 10 30915699 30915699 A G snp 2158.77 0/1 99 238 120 118 0.5 intronic rs80215787 LYZL2 AU NM_183058 exon4 c.14822-6A>G 0.0135783 0.0347 0.000692 0.0083 0.0266 Uncertain 10_30915898_C->T 10 30915898 30915898 C T snp 139.77 0/1 99 78 67 11 0.14 intronic rs61844263 LYZL2 AU NM_183058 exon4 c.14986+29C>T 0.2302 0.3566 Uncertain 10_30918389_A->T 10 30918389 30918389 A T snp 96.77 0/1 99 64 56 8 0.13 intronic LYZL2 AU NM_183058 exon5 c.17638-132A>T Uncertain 10_30918408_A->C 10 30918408 30918408 A C snp 495.77 0/1 99 102 79 23 0.23 intronic LYZL2 AU NM_183058 exon5 c.17638-113A>C Uncertain 10_30918412_C->G 10 30918412 30918412 C G snp 576.77 0/1 99 104 79 25 0.24 intronic LYZL2 AU NM_183058 exon5 c.17638-109C>G Uncertain 10_30918421_T->C 10 30918421 30918421 T C snp 821.77 0/1 99 130 92 38 0.29 intronic rs200685861 LYZL2 AU NM_183058 exon5 c.17638-100T>C Uncertain 10_30918486_G->A 10 30918486 30918486 G A snp 2026.77 0/1 99 237 142 95 0.4 intronic rs75095145 LYZL2 AU NM_183058 exon5 c.17638-35G>A 0.4397 0.4788 Uncertain 10_30918492_G->T 10 30918492 30918492 G T snp 2044.77 0/1 99 237 141 96 0.41 intronic rs76101300 LYZL2 AU NM_183058 exon5 c.17638-29G>T 0.4388 0.4786 Uncertain 10_30918549_G->C 10 30918549 30918549 G C snp 1937.77 0/1 99 224 131 93 0.42 exonic rs201069868 LYZL2 AU nonsynonymous SNV NM_183058 exon1 c.C86G p.A29G 0.2935 0.3585 0.54 T 1 N -1.038 T 0.0 T 0.0 T Pathogenic 10_30918597_T->C 10 30918597 30918597 T C snp 873.77 0/1 99 151 108 43 0.28 exonic rs74551644 LYZL2 AU nonsynonymous SNV NM_183058 exon1 c.A38G p.K13R 0.2929 0.3519 0.46 T 1.000 N -0.748 T 0.988 D 0.981 D Pathogenic 10_30964289_T->C 10 30964289 30964289 T C snp 182.9 1/1 15 5 0 5 1.0 intergenic rs4749578 LYZL2 AU 0.730431 0.5804 Uncertain 10_30978100_G->C 10 30978100 30978100 G C snp 119.03 1/1 12 4 0 4 1.0 intergenic rs199874956 LYZL2 AU 0.10004 0.131 Uncertain 10_30978101_G->A 10 30978101 30978101 G A snp 117.03 1/1 12 4 0 4 1.0 intergenic rs200887193 LYZL2 AU 0.10004 0.131 Uncertain 10_30978102_T->C 10 30978102 30978102 T C snp 117.03 1/1 12 4 0 4 1.0 intergenic rs202167988 LYZL2 AU 0.10004 0.131 Uncertain 10_30978164_A->G 10 30978164 30978164 A G snp 1041.77 1/1 81 47 0 47 1.0 intergenic rs28363791 LYZL2 AU 0.555312 0.4325 Uncertain 10_30978206_G->C 10 30978206 30978206 G C snp 976.77 0/1 99 79 31 48 0.61 intergenic rs61844348 LYZL2 AU Uncertain 10_30978265_G->A 10 30978265 30978265 G A snp 1023.77 0/1 99 96 41 55 0.57 intergenic rs112982956 LYZL2 AU Uncertain 10_30978365_C->T 10 30978365 30978365 C T snp 436.77 0/1 76 24 7 17 0.71 intergenic rs111412331 LYZL2 AU Uncertain 10_30978377_G->C 10 30978377 30978377 G C snp 287.78 1/1 24 13 0 13 1.0 intergenic rs10763815 LYZL2 AU 0.55012 0.4583 Uncertain 10_30978388_C->T 10 30978388 30978388 C T snp 179.9 1/1 15 7 0 7 1.0 intergenic rs28582447 LYZL2 AU 0.483227 0.3998 Uncertain 10_30982453_T->C 10 30982453 30982453 T C snp 435.77 1/1 42 21 0 21 1.0 ncRNA_intronic rs7068641 SVILP1 AU Uncertain 10_30982475_A->G 10 30982475 30982475 A G snp 1023.77 1/1 84 35 0 35 1.0 ncRNA_intronic rs7084628 SVILP1 AU Uncertain 10_30982526_T->G 10 30982526 30982526 T G snp 2236.77 1/1 99 92 0 92 1.0 ncRNA_intronic rs7068784 SVILP1 AU 0.480032 0.3968 Uncertain 10_30982752_C->T 10 30982752 30982752 C T snp 139.03 1/1 12 4 0 4 1.0 ncRNA_intronic rs7088506 SVILP1 AU 0.503594 0.3968 Uncertain 10_30985081_G->A 10 30985081 30985081 G A snp 404.77 1/1 30 15 0 15 1.0 ncRNA_intronic rs10826846 SVILP1 AU 0.722244 0.6567 Uncertain 10_30986240_C->T 10 30986240 30986240 C T snp 375.31 0/1 1 16 2 14 0.88 ncRNA_intronic rs138927815 SVILP1 AU 0.682109 0.6151 Uncertain 10_30986242_A->G 10 30986242 30986242 A G snp 380.31 0/1 1 16 2 14 0.88 ncRNA_intronic rs11008188 SVILP1 AU 0.776957 0.6052 Uncertain 10_30986244_A->G 10 30986244 30986244 A G snp 383.31 0/1 1 16 2 14 0.88 ncRNA_intronic rs11007616 SVILP1 AU 0.776957 0.6052 Uncertain 10_30986253_G->A 10 30986253 30986253 G A snp 510.41 1/1 8 19 2 17 0.89 ncRNA_intronic rs4747726 SVILP1 AU Uncertain 10_30986296_C->T 10 30986296 30986296 C T snp 1296.77 1/1 62 49 2 47 0.96 ncRNA_intronic rs4749587 SVILP1 AU 0.724641 0.6567 Uncertain 10_30986357_T->C 10 30986357 30986357 T C snp 646.77 0/1 99 69 39 30 0.43 ncRNA_exonic SVILP1 AU Uncertain 10_30986364_G->A 10 30986364 30986364 G A snp 838.77 0/1 99 69 30 39 0.57 ncRNA_exonic rs7078530 SVILP1 AU 0.481829 0.3919 Uncertain 10_30989188_G->C 10 30989188 30989188 G C snp 6348.77 1/1 99 232 0 232 1.0 ncRNA_exonic rs10740829 SVILP1 AU 1 1 0.9988 1 Uncertain 10_30993404_G->A 10 30993404 30993404 G A snp 6063.77 1/1 99 204 0 204 1.0 ncRNA_exonic rs11008192 SVILP1 AU 0.524561 0.4206 0.6030 0.4479 Uncertain 10_30993448_G->A 10 30993448 30993448 G A snp 5186.77 1/1 99 192 0 192 1.0 ncRNA_exonic rs10826848 SVILP1 AU 0.8752 0.7272 0.9159 0.7416 Uncertain 10_30998590_A->G 10 30998590 30998590 A G snp 284.78 1/1 24 8 0 8 1.0 ncRNA_intronic rs7076768 SVILP1 AU 0.984225 1 Uncertain 10_31001293_A->G 10 31001293 31001293 A G snp 56.74 1/1 6 2 0 2 1.0 ncRNA_intronic rs3858241 SVILP1 AU 0.926917 0.8571 Uncertain 10_31001494_A->C 10 31001494 31001494 A C snp 7247.77 1/1 99 249 0 249 1.0 ncRNA_exonic rs1826619 SVILP1 AU 0.634385 0.501 0.7696 0.5208 Uncertain 10_31134557_T->C 10 31134557 31134557 T C snp 1395.77 1/1 99 42 0 42 1.0 intronic rs17229657 ZNF438 AU NM_001143771 exon1 c.613+55T>C 0.460863 0.4891 Uncertain 10_31138817_G->A 10 31138817 31138817 G A snp 1765.77 0/1 99 143 71 72 0.5 exonic rs10160116 ZNF438 AU nonsynonymous SNV NM_001143767 exon5 c.C517T p.P173S 0.375399 0.3978 0.361833 0.4014 0.3782 0.87 T 0.0 P -0.923 T 0.053 T 0.019 T Pathogenic 10_31146643_T->C 10 31146643 31146643 T C snp 1674.77 0/1 99 157 80 77 0.49 UTR5 rs4237394 ZNF438 AU 0.3748 0.3938 0.364433 0.3903 0.4055 Uncertain 10_31166088_G->A 10 31166088 31166088 G A snp 71.77 0/1 99 8 5 3 0.38 intronic rs10763848 ZNF438 AU NM_001143771 exon4 c.32105+94G>A 0.364417 0.3938 Uncertain 10_31803516_G->A 10 31803516 31803516 G A snp 1688.77 1/1 99 67 0 67 1.0 intronic rs220060 ZEB1 AU NM_001174096 exon6 c.195367-14G>A 0.921326 1 0.915411 0.9425 0.9997 Uncertain 10_32096803_G->C 10 32096803 32096803 G C snp 197.77 0/1 99 26 18 8 0.31 intronic rs1412493 ARHGAP12 AU NM_001270697 exon1 c.175+43G>C 0.291733 0.4534 0.225762 0.2484 0.4829 Uncertain 10_32097806_A->T 10 32097806 32097806 A T snp 375.77 0/1 99 17 5 12 0.71 intronic rs1029077 ARHGAP12 AU NM_001270697 exon3 c.1336-115A>T 0.240216 0.4127 Uncertain 10_32097851_A->G 10 32097851 32097851 A G snp 46.77 0/1 33 3 1 2 0.67 intronic rs1029078 ARHGAP12 AU NM_001270697 exon3 c.1336-70A>G 0.240415 0.4127 Uncertain 10_32099548_A->- 10 32099548 32099548 A - indel 313.73 0/1 99 29 14 15 0.52 intronic rs3840745 ARHGAP12 AU NM_001270697 exon5 c.2991-28delA 0.244209 0.4157 0.3011 0.4642 Uncertain 10_32103077_C->T 10 32103077 32103077 C T snp 305.77 0/1 99 19 8 11 0.58 intronic rs2799012 ARHGAP12 AU NM_001270697 exon7 c.6601-109C>T 0.507388 0.4187 Uncertain 10_32106575_C->T 10 32106575 32106575 C T snp 77.28 1/1 9 3 0 3 1.0 intronic rs2778651 ARHGAP12 AU NM_001270697 exon8 c.10130-140C>T 0.450479 0.4177 Uncertain 10_32106851_A->G 10 32106851 32106851 A G snp 229.77 0/1 99 41 27 14 0.34 intronic rs2778650 ARHGAP12 AU NM_001270697 exon8 c.10229+37A>G 0.507388 0.4187 0.529222 0.4937 0.3942 Uncertain 10_32115133_A->G 10 32115133 32115133 A G snp 748.77 1/1 57 19 0 19 1.0 intronic rs2255544 ARHGAP12 AU NM_001270697 exon10 c.18646-98A>G 0.799521 0.874 Uncertain 10_32120678_C->T 10 32120678 32120678 C T snp 526.77 0/1 99 48 26 22 0.46 exonic rs2808100 ARHGAP12 AU synonymous SNV NM_001270699 exon6 c.G1281A p.G427G 0.241813 0.4127 0.171053 0.2242 0.3794 1.000 P -0.938 T Likely benign 10_32128023_A->G 10 32128023 32128023 A G snp 503.77 1/1 39 13 0 13 1.0 intronic rs2808097 ARHGAP12 AU NM_001270697 exon12 c.31647-209A>G 0.798522 0.872 Uncertain 10_32128611_A->G 10 32128611 32128611 A G snp 359.77 0/1 99 35 15 20 0.57 exonic rs2808096 ARHGAP12 AU nonsynonymous SNV NM_001270699 exon5 c.T1184C p.F395S 0.231829 0.4127 0.168768 0.2179 0.3817 0.44 T 0.145 P -0.906 T 0.0 T 0.001 T Pathogenic 10_32141460_T->C 10 32141460 32141460 T C snp 1736.77 0/1 99 145 67 78 0.54 exonic rs2799021 ARHGAP12 AU synonymous SNV NM_001270699 exon3 c.A1014G p.E338E 0.231829 0.4127 0.168922 0.2176 0.3841 1.0 P -0.965 T Likely benign 10_32143208_A->C 10 32143208 32143208 A C snp 265.77 0/1 99 16 7 9 0.56 intronic rs2808090 ARHGAP12 AU NM_018287 exon16 c.46549+74A>C 0.448882 0.4187 Uncertain 10_32307534_-->A 10 32307534 32307534 - A indel 358.74 1/1 30 11 0 11 1.0 intronic rs11428920 KIF5B AU NM_004521 exon6 c.3034+44insA 0.972644 1 0.9931 1 Uncertain 10_32307536_T->A 10 32307536 32307536 T A snp 229.84 1/1 18 8 0 8 1.0 intronic rs55938482 KIF5B AU NM_004521 exon6 c.3034+46T>A 0.972644 1 0.9931 1 Uncertain 10_32311969_A->G 10 32311969 32311969 A G snp 3368.77 1/1 99 126 0 126 1.0 splicing rs176924 KIF5B AU NM_004521 exon11 c.7508+5A>G 0.967053 1 0.967707 0.9914 1 Pathogenic 10_32557962_C->T 10 32557962 32557962 C T snp 1992.77 0/1 99 166 76 90 0.54 UTR3 rs533624415 EPC1 AU 0.000199681 0.001 0.0003 0.0039 Uncertain 10_32575793_A->G 10 32575793 32575793 A G snp 2546.77 1/1 99 85 0 85 1.0 intronic rs2986931 EPC1 AU NM_001282391 exon6 c.17780+23A>G 0.59405 0.756 0.612333 0.6671 0.7266 Uncertain 10_32740904_A->C 10 32740904 32740904 A C snp 1054.77 0/1 99 76 35 41 0.54 intronic rs74740427 CCDC7 AU NM_145023 exon2 c.279+55A>C 0.0874601 0.1627 Uncertain 10_32740905_G->A 10 32740905 32740905 G A snp 1083.77 0/1 99 76 35 41 0.54 intronic rs7094838 CCDC7 AU NM_145023 exon2 c.279+56G>A 0.160942 0.1627 Uncertain 10_32742256_T->G 10 32742256 32742256 T G snp 79.77 0/1 99 10 6 4 0.4 intronic rs2490505 CCDC7 AU NM_145023 exon3 c.1701-15T>G 0.797125 0.6855 0.837954 0.8680 0.6800 Uncertain 10_32745262_T->C 10 32745262 32745262 T C snp 459.77 0/1 99 64 40 24 0.38 exonic rs7897978 CCDC7 AU synonymous SNV NM_001026383 exon4 c.T456C p.N152N 0.160942 0.1627 0.141626 0.1139 0.1712 Uncertain 10_32745396_A->G 10 32745396 32745396 A G snp 465.77 1/1 36 13 0 13 1.0 intronic rs2244153 CCDC7 AU NM_145023 exon4 c.4692+134A>G 0.91853 1 Uncertain 10_32751901_G->A 10 32751901 32751901 G A snp 1878.77 1/1 99 69 0 69 1.0 intronic rs2505380 CCDC7 AU NM_145023 exon6 c.11374-43G>A 0.918131 1 0.913462 0.9767 1 Uncertain 10_32759918_G->A 10 32759918 32759918 G A snp 49.77 0/1 33 4 1 3 0.75 intronic rs2460710 CCDC7 AU NM_145023 exon7 c.19421-73G>A 0.426717 0.2579 Uncertain 10_32806972_C->T 10 32806972 32806972 C T snp 925.77 0/1 99 85 41 44 0.52 intronic rs2990984 CCDC7 AU NM_145023 exon11 c.66333+69C>T 0.487819 0.5863 0.355604 Uncertain 10_32807434_G->T 10 32807434 32807434 G T snp 280.77 0/1 99 46 31 15 0.33 splicing rs41276068 CCDC7 AU NM_145023 exon12 c.66863+1G>T 0.086861 0.1597 0.073208 0.0940 0.1692 1.000 P Pathogenic 10_32832214_G->A 10 32832214 32832214 G A snp 204.77 0/1 99 17 7 10 0.59 intronic rs2990986 CCDC7 AU NM_145023 exon13 c.91657-13G>A 0.539337 0.5863 0.410553 0.5102 0.6490 Uncertain 10_32833082_T->- 10 32833082 32833082 T - indel 196.73 0/1 99 14 7 7 0.5 intronic rs113244447 CCDC7 AU NM_145023 exon14 c.92604-92delT 0.160543 0.1597 Uncertain 10_32833121_G->C 10 32833121 32833121 G C snp 419.77 0/1 99 33 15 18 0.55 intronic rs11008968 CCDC7 AU NM_145023 exon14 c.92604-53G>C 0.120807 0.3185 0.070330 Uncertain 10_32833354_C->G 10 32833354 32833354 C G snp 131.77 0/1 99 16 10 6 0.38 intronic rs45553939 CCDC7 AU NM_145023 exon14 c.92659+125C>G 0.160343 0.1597 Uncertain 10_32854667_G->A 10 32854667 32854667 G A snp 110.77 0/1 99 8 4 4 0.5 intronic rs1980248 CCDC7 AU NM_145023 exon15 c.113978+119G>A 0.160743 0.1597 Uncertain 10_32856672_T->A 10 32856672 32856672 T A snp 499.77 0/1 99 31 12 19 0.61 exonic rs143709269 CCDC7 AU synonymous SNV NM_001026383 exon16 c.T1272A p.T424T 0.00139776 0.0069 0.0008 0.0110 Uncertain 10_32912945_C->T 10 32912945 32912945 C T snp 155.77 0/1 99 10 5 5 0.5 intronic rs74233145 CCDC7 AU NM_024688 exon3 c.43+39713C>T 0.0866613 0.1597 Uncertain 10_32974874_-->AATAGATAAATAC 10 32974874 32974874 - AATAGATAAATAC indel 2616.73 0/1 99 35 18 17 0.49 intronic rs148671234 CCDC7 AU NM_024688 exon4 c.101708-23insAATAGATAAATAC 0.120208 0.3135 0.069885 0.1122 0.3215 Uncertain 10_32974969_A->G 10 32974969 32974969 A G snp 1513.77 1/1 99 60 0 60 1.0 exonic rs1762526 CCDC7 AU nonsynonymous SNV NM_024688 exon4 c.A115G p.I39V 0.916534 1 0.912240 0.9762 1 1 T 0.0 P -0.967 T 0.0 T 0.0 T Pathogenic 10_33014355_TG->- 10 33014355 33014356 TG - indel 2020.73 0/1 99 84 36 48 0.57 intronic rs138210257 CCDC7 AU NM_024688 exon8 c.142472-1306_142472-1305delTG 0.121006 0.3175 0.1104 0.2709 Uncertain 10_33015782_G->A 10 33015782 33015782 G A snp 224.84 1/1 18 9 0 9 1.0 intronic rs928701 CCDC7 AU NM_024688 exon8 c.142571+22G>A 0.989018 1 0.990588 0.9972 1 Uncertain 10_33017782_C->T 10 33017782 33017782 C T snp 232.77 0/1 99 19 9 10 0.53 intronic rs10827116 CCDC7 AU NM_024688 exon9 c.144625-32C>T 0.121006 0.3175 0.075181 0.1343 0.3614 Uncertain 10_33018351_G->C 10 33018351 33018351 G C snp 438.77 1/1 33 15 0 15 1.0 exonic rs1414548 CCDC7 AU synonymous SNV NM_024688 exon10 c.G792C p.T264T 0.916534 1 0.913151 0.9769 1 Uncertain 10_33123824_G->C 10 33123824 33123824 G C snp 1584.77 1/1 99 64 0 64 1.0 exonic rs4448627 CCDC7 AU nonsynonymous SNV NM_024688 exon14 c.G1163C p.G388A 0.983626 1 0.982278 0.9948 1 0.84 T 0.0 P -1.002 T 0.0 T 0.001 T Pathogenic 10_33137471_G->A 10 33137471 33137471 G A snp 307.77 0/1 99 30 16 14 0.47 intronic rs551202144 CCDC7 AU NM_024688 exon19 c.264334-52G>A 0.000199681 Uncertain 10_33143396_G->A 10 33143396 33143396 G A snp 2019.77 1/1 99 76 0 76 1.0 exonic rs1418538 CCDC7 AU nonsynonymous SNV NM_024688 exon21 c.G1819A p.V607I 0.983626 1 0.982066 0.9948 1 1 T 0.0 P -0.995 T 0.0 T 0.0 T Pathogenic 10_33165226_G->A 10 33165226 33165226 G A snp 443.77 0/1 99 38 20 18 0.47 intronic rs2488305 CCDC7 AU NM_024688 exon22 c.292085-48G>A 0.761781 0.6875 0.776101 0.8198 0.6691 Uncertain 10_33190567_C->A 10 33190567 33190567 C A snp 177.77 0/1 99 35 23 12 0.34 splicing rs2153875 ITGB1 AU NM_133376 exon1 c.66+4C>A 0.511182 0.501 0.594418 0.6755 0.5025 Pathogenic 10_33195877_C->T 10 33195877 33195877 C T snp 476.77 0/1 99 39 16 23 0.59 intronic rs3824602 ITGB1 AU NM_133376 exon2 c.6798-1418C>T 0.190895 0.3125 Uncertain 10_33197197_A->C 10 33197197 33197197 A C snp 954.77 0/1 99 87 45 42 0.48 intronic rs1316757 ITGB1 AU NM_033668 exon3 c.1299-98A>C 0.125 0.3125 Uncertain 10_33200782_C->T 10 33200782 33200782 C T snp 3454.77 0/1 99 250 109 141 0.56 intronic rs4587680 ITGB1 AU NM_033668 exon6 c.4817-31C>T 0.105232 0.1617 0.074658 0.1096 0.1739 Uncertain 10_33208944_C->T 10 33208944 33208944 C T snp 822.77 0/1 99 71 35 36 0.51 exonic rs147320657 ITGB1 AU synonymous SNV NM_033668 exon10 c.G1338A p.R446R 0.00359425 0.0179 0.0014 0.0188 Uncertain 10_33209266_G->T 10 33209266 33209266 G T snp 1834.77 0/1 99 182 95 87 0.48 exonic rs2230396 ITGB1 AU synonymous SNV NM_033668 exon9 c.C1176A p.G392G 0.784545 0.6885 0.825542 0.8581 0.6762 Uncertain 10_33211227_T->G 10 33211227 33211227 T G snp 1248.77 0/1 99 112 55 57 0.51 exonic rs2230395 ITGB1 AU synonymous SNV NM_033668 exon8 c.A1086C p.A362A 0.190895 0.3115 0.147009 0.1344 0.3264 Uncertain 10_33217110_G->A 10 33217110 33217110 G A snp 2031.77 0/1 99 181 91 90 0.5 exonic rs2230394 ITGB1 AU synonymous SNV NM_033668 exon4 c.C459T p.Y153Y 0.19988 0.3125 0.156774 0.1366 0.3250 Uncertain 10_33217383_T->A 10 33217383 33217383 T A snp 44.77 0/1 33 3 1 2 0.67 intronic rs2153871 ITGB1 AU NM_033668 exon13 c.21196+191T>A 0.784145 0.6875 Uncertain 10_33219008_T->G 10 33219008 33219008 T G snp 221.77 0/1 99 15 8 7 0.47 intronic rs2256455 ITGB1 AU NM_033668 exon14 c.22976+36T>G 0.484425 0.4425 0.527786 0.6269 0.4306 Uncertain 10_33469181_A->G 10 33469181 33469181 A G snp 7161.77 1/1 99 250 0 250 1.0 exonic rs1048804 NRP1 AU synonymous SNV NM_003873 exon17 c.T2595C p.S865S 0.424321 0.622 0.325542 0.2981 0.6554 Uncertain 10_33481478_A->G 10 33481478 33481478 A G snp 640.77 1/1 48 20 0 20 1.0 intronic rs2243920 NRP1 AU NM_001244973 exon5 c.12343+132A>G 0.567292 0.7391 Uncertain 10_33483561_T->A 10 33483561 33483561 T A snp 1043.77 1/1 78 32 0 32 1.0 intronic rs2474726 NRP1 AU NM_001244973 exon5 c.12343+2215T>A 0.329073 0.6399 Uncertain 10_33483838_AT->- 10 33483838 33483839 AT - indel 1297.73 1/1 81 33 0 33 1.0 intronic rs149169549 NRP1 AU NM_001244973 exon5 c.12343+2492_12343+2493delAT 0.329073 0.6399 Uncertain 10_33484577_C->T 10 33484577 33484577 C T snp 2724.77 1/1 99 84 0 84 1.0 intronic rs2474724 NRP1 AU NM_001244973 exon6 c.17574-2000C>T 0.338858 0.6399 Uncertain 10_33484696_G->A 10 33484696 33484696 G A snp 133.03 1/1 12 4 0 4 1.0 intronic rs734187 NRP1 AU NM_001244973 exon6 c.17574-1881G>A 0.338658 0.6399 Uncertain 10_33486667_A->G 10 33486667 33486667 A G snp 1811.77 1/1 99 63 0 63 1.0 intronic rs10827208 NRP1 AU NM_001244973 exon6 c.17634+30A>G 0.31889 0.6062 0.206366 0.2884 0.6368 Uncertain 10_33491480_T->C 10 33491480 33491480 T C snp 56.74 1/1 6 2 0 2 1.0 intronic rs11009286 NRP1 AU NM_003873 exon7 c.22815-338T>C 0.304313 0.5933 Uncertain 10_33491495_T->G 10 33491495 33491495 T G snp 56.74 1/1 6 2 0 2 1.0 intronic rs11009287 NRP1 AU NM_003873 exon7 c.22815-323T>G 0.29992 0.5853 Uncertain 10_33491552_G->A 10 33491552 33491552 G A snp 1446.77 1/1 99 54 1 53 0.98 intronic rs11009288 NRP1 AU NM_003873 exon7 c.22815-266G>A 0.281949 0.5893 0.2894 0.5749 Uncertain 10_33492093_A->G 10 33492093 33492093 A G snp 54.74 1/1 6 2 0 2 1.0 intronic rs2247715 NRP1 AU NM_001244973 exon7 c.22920+170A>G 0.517173 0.7401 Uncertain 10_33495267_C->T 10 33495267 33495267 C T snp 3218.75 1/1 99 127 0 127 1.0 intronic rs11812166 NRP1 AU NM_001244973 exon8 c.27496-1232C>T 0.331869 0.6002 0.231775 0.3084 0.6299 0.37 T 0.000 P -0.893 T Uncertain 10_33495304_A->G 10 33495304 33495304 A G snp 2869.77 1/1 99 106 0 106 1.0 intronic rs11815912 NRP1 AU NM_001244973 exon8 c.27496-1195A>G 0.331869 0.6002 0.228811 0.3033 0.6205 Uncertain 10_33495306_A->G 10 33495306 33495306 A G snp 2906.77 1/1 99 105 0 105 1.0 intronic rs2474715 NRP1 AU NM_001244973 exon8 c.27496-1193A>G 0.516973 0.7391 0.447681 0.4840 0.7585 Uncertain 10_33495333_C->A 10 33495333 33495333 C A snp 2388.77 1/1 99 91 0 91 1.0 intronic rs11812181 NRP1 AU NM_001244973 exon8 c.27496-1166C>A 0.331869 0.6002 Uncertain 10_33502240_C->T 10 33502240 33502240 C T snp 6086.77 1/1 99 220 0 220 1.0 intronic rs2070303 NRP1 AU NM_001244973 exon9 c.33310-73C>T 0.234824 0.5099 0.1747 0.5384 0 D 0.0 P -1.246 T Uncertain 10_33510614_G->A 10 33510614 33510614 G A snp 2103.77 1/1 99 71 1 70 0.99 intronic rs4934837 NRP1 AU NM_001244973 exon10 c.41643-32G>A 0.359225 0.623 0.246194 0.3142 0.6448 Uncertain 10_33510663_G->A 10 33510663 33510663 G A snp 4124.77 1/1 99 150 3 147 0.98 exonic rs2229935 NRP1 AU synonymous SNV NM_003873 exon8 c.C1266T p.Y422Y 0.359026 0.623 0.246194 0.3142 0.6445 Uncertain 10_33510768_G->A 10 33510768 33510768 G A snp 5121.77 1/1 99 197 2 195 0.99 exonic rs2229934 NRP1 AU synonymous SNV NM_003873 exon8 c.C1161T p.P387P 0.359225 0.623 0.246194 0.3142 0.6450 Uncertain 10_33538621_C->T 10 33538621 33538621 C T snp 83.77 0/1 30 4 1 3 0.75 intronic rs11009323 NRP1 AU NM_001244973 exon12 c.73952-4334C>T 0.322484 0.5258 Uncertain 10_33545464_G->C 10 33545464 33545464 G C snp 279.77 0/1 99 26 15 11 0.42 intronic rs10827221 NRP1 AU NM_001244973 exon13 c.76396+65G>C 0.430911 0.503 Uncertain 10_33552407_G->A 10 33552407 33552407 G A snp 371.77 0/1 80 15 3 12 0.8 intronic rs2070299 NRP1 AU NM_001244973 exon14 c.83570-166G>A 0.521565 0.5833 Uncertain 10_33552518_A->C 10 33552518 33552518 A C snp 1075.77 0/1 99 80 32 48 0.6 intronic rs2070298 NRP1 AU NM_001244973 exon14 c.83570-55A>C 0.523762 0.5923 Uncertain 10_33552522_G->A 10 33552522 33552522 G A snp 1144.77 0/1 99 83 34 49 0.59 intronic rs2070297 NRP1 AU NM_001244973 exon14 c.83570-51G>A 0.523762 0.5923 0.532996 Uncertain 10_33552695_C->T 10 33552695 33552695 C T snp 1354.77 0/1 99 136 78 58 0.43 exonic rs2070296 NRP1 AU synonymous SNV NM_003873 exon4 c.G537A p.V179V 0.284145 0.4623 0.158312 0.2037 0.4710 Uncertain 10_33552696_A->G 10 33552696 33552696 A G snp 3585.77 1/1 99 133 2 131 0.98 exonic rs7079053 NRP1 AU nonsynonymous SNV NM_003873 exon4 c.T536C p.V179A 1 1 0.999462 0.9998 1 1 T 0.068 P -0.924 T 0.0 T 0.004 T Pathogenic 10_33619562_C->T 10 33619562 33619562 C T snp 385.77 1/1 30 11 0 11 1.0 intronic rs1411924 NRP1 AU NM_001244973 exon16 c.150632-73C>T 0.882388 0.995 Uncertain 10_34408745_A->C 10 34408745 34408745 A C snp 1249.77 1/1 90 46 0 46 1.0 intronic rs3004928 PARD3 AU NM_001184789 exon2 c.8572+77A>C 0.607428 0.8601 Uncertain 10_34688287_G->A 10 34688287 34688287 G A snp 3563.77 1/1 99 134 0 134 1.0 exonic rs2796011 PARD3 AU synonymous SNV NM_019619 exon7 c.C861T p.H287H 0.9998 1 0.998462 0.9990 1 Uncertain 10_35104026_G->A 10 35104026 35104026 G A snp 587.77 1/1 45 20 0 20 1.0 UTR5 rs12355985 PARD3 AU 0.198882 0.378 Uncertain 10_35324076_A->G 10 35324076 35324076 A G snp 2197.77 1/1 99 79 0 79 1.0 intronic rs2244174 CUL2 AU NM_003591 exon12 c.24861-23A>G 0.995607 1 0.996924 0.9987 0.9999 Uncertain 10_35360322_T->G 10 35360322 35360322 T G snp 1162.77 1/1 84 37 0 37 1.0 intronic rs75366845 CUL2 AU NM_003591 exon20 c.61029+55T>G 0.0223642 0.0625 Uncertain 10_35625845_C->G 10 35625845 35625845 C G snp 185.9 1/1 15 6 0 6 1.0 UTR5 rs59114674 CCNY AU 1 1 Uncertain 10_35625846_-->C 10 35625846 35625846 - C indel 227.8 1/1 18 6 0 6 1.0 UTR5 rs574221727 CCNY AU 1 1 Uncertain 10_35894666_A->G 10 35894666 35894666 A G snp 2188.77 1/1 99 70 0 70 1.0 intronic rs627267 GJD4 AU NM_153368 exon1 c.64+107A>G 0.897764 0.9653 Uncertain 10_35894761_G->A 10 35894761 35894761 G A snp 312.78 1/1 24 10 0 10 1.0 intronic rs637881 GJD4 AU NM_153368 exon1 c.64+202G>A 0.703674 0.7966 Uncertain 10_35894794_T->G 10 35894794 35894794 T G snp 135.03 1/1 12 4 0 4 1.0 intronic rs637928 GJD4 AU NM_153368 exon1 c.64+235T>G 0.897165 0.9653 Uncertain 10_35896957_G->A 10 35896957 35896957 G A snp 5949.77 1/1 99 231 0 231 1.0 exonic rs595652 GJD4 AU synonymous SNV NM_153368 exon2 c.G516A p.K172K 0.212061 0.3234 0.165231 0.2464 0.3474 Uncertain 10_35928224_C->G 10 35928224 35928224 C G snp 883.77 1/1 66 31 0 31 1.0 UTR3 rs625858 FZD8 AU 0.89976 0.995 0.9626 0.9878 Uncertain 10_35929131_G->A 10 35929131 35929131 G A snp 1929.77 0/1 99 194 103 91 0.47 exonic rs74989785 FZD8 AU synonymous SNV NM_031866 exon1 c.C1227T p.A409A 0.0738818 0.1468 0.026911 0.0365 0.1318 Uncertain 10_35930414_-->C 10 35930414 35930414 - C indel 290.14 0/1 10 9 1 8 0.89 upstream rs71003903 FZD8 AU 0.189696 0.3254 Uncertain 10_36811688_GT->- 10 36811688 36811689 GT - indel 184.73 0/1 99 14 8 6 0.43 intergenic LINC01452 AU Uncertain 10_36812362_C->T 10 36812362 36812362 C T snp 7585.77 1/1 99 248 9 239 0.96 intergenic rs2503084 LINC01452 AU 0.503395 0.5655 0.5398 0.5417 Uncertain 10_36813180_T->A 10 36813180 36813180 T A snp 3491.77 1/1 99 132 0 132 1.0 intergenic rs2503083 LINC01452 AU 0.515775 0.5813 0.5669 0.5819 Uncertain 10_36813198_A->G 10 36813198 36813198 A G snp 3077.77 1/1 99 111 0 111 1.0 intergenic rs2503082 LINC01452 AU 0.992812 1 0.9972 1 Uncertain 10_36813218_C->G 10 36813218 36813218 C G snp 2366.77 1/1 99 79 0 79 1.0 intergenic rs2505569 LINC01452 AU 0.502196 0.5813 Uncertain 10_36813298_G->A 10 36813298 36813298 G A snp 345.78 1/1 27 9 0 9 1.0 intergenic rs10764092 LINC01452 AU 0.476238 0.5794 Uncertain 10_37453904_C->T 10 37453904 37453904 C T snp 116.77 0/1 99 8 4 4 0.5 intronic rs74394840 ANKRD30A AU NM_052997 exon18 c.39138-117C>T 0.0591054 0.0873 Uncertain 10_37454186_T->C 10 37454186 37454186 T C snp 399.77 0/1 99 32 17 15 0.47 intronic rs41314954 ANKRD30A AU NM_052997 exon18 c.39200+103T>C 0.0583067 0.0863 Uncertain 10_37488689_G->C 10 37488689 37488689 G C snp 1496.77 0/1 99 106 41 65 0.61 exonic rs1209750 ANKRD30A AU nonsynonymous SNV NM_052997 exon30 c.G2583C p.K861N 0.482228 0.3244 0.596694 0.5155 0.3366 0.32 T 0.0 P -0.946 T 0.207 T 0.022 T Pathogenic 10_37508450_A->C 10 37508450 37508450 A C snp 1144.77 0/1 99 70 31 39 0.56 exonic rs1148259 ANKRD30A AU synonymous SNV NM_052997 exon34 c.A3642C p.A1214A 0.533546 0.6746 0.408572 0.4997 0.6692 Uncertain 10_37520428_A->G 10 37520428 37520428 A G snp 1472.77 0/1 99 166 93 73 0.44 UTR3 rs202054228 ANKRD30A AU 0.000199681 0.001 0.0002 0.0021 Uncertain 10_37520625_G->T 10 37520625 37520625 G T snp 558.77 1/1 42 14 0 14 1.0 intronic rs1926127 ANKRD30A AU NM_052997 exon35 c.105725+17G>T 0.766573 0.8472 Uncertain 10_38245843_-->A 10 38245843 38245843 - A indel 62.73 0/1 32 15 6 9 0.6 intronic rs397765424 ZNF25 AU NM_145011 exon3 c.4893-104insA 0.472644 0.494 Uncertain 10_38246545_A->G 10 38246545 38246545 A G snp 529.77 1/1 42 16 0 16 1.0 intronic rs2799499 ZNF25 AU NM_145011 exon4 c.5420+71A>G 0.897764 0.8859 Uncertain 10_38260559_ACACACAC->- 10 38260559 38260566 ACACACAC - indel 2770.73 0/1 99 60 26 34 0.57 intronic rs371664170 ZNF25 AU NM_145011 exon5 c.19581-76_19581-69delACACACAC Uncertain 10_38299843_G->T 10 38299843 38299843 G T snp 223.77 0/1 99 14 6 8 0.57 intronic rs2293962 ZNF33A AU NM_001278177 exon1 c.23+132G>T 0.236621 0.4107 Uncertain 10_38305960_G->A 10 38305960 38305960 G A snp 915.77 0/1 99 78 41 37 0.47 intronic rs779748752 ZNF33A AU NM_001278173 exon4 c.1033+17G>A 2.498e-05 0.0003 Uncertain 10_38306079_T->C 10 38306079 38306079 T C snp 224.84 1/1 18 6 0 6 1.0 intronic rs2738207 ZNF33A AU NM_001278173 exon4 c.1033+136T>C 0.895966 0.8859 Uncertain 10_38306128_A->G 10 38306128 38306128 A G snp 694.77 1/1 54 19 0 19 1.0 intronic rs2738208 ZNF33A AU NM_001278173 exon5 c.1308-90A>G 0.783946 0.8353 Uncertain 10_38343260_G->A 10 38343260 38343260 G A snp 40.77 0/1 69 5 3 2 0.4 intronic rs2472160 ZNF33A AU NM_001278175 exon6 c.28979-42G>A 0.205871 0.4107 0.162410 0.1799 0.4117 Uncertain 10_38344700_C->G 10 38344700 38344700 C G snp 1777.77 0/1 99 167 88 79 0.47 exonic rs2505232 ZNF33A AU nonsynonymous SNV NM_001278170 exon4 c.C1666G p.Q556E 0.477037 0.5754 0.489851 0.4463 0.5652 1 T 0.000 P -0.938 T 0.0 T 0.0 T Pathogenic 10_38385316_A->G 10 38385316 38385316 A G snp 440.77 0/1 99 27 14 13 0.48 intronic rs2474572 ZNF37A AU 0.442292 0.5585 Uncertain 10_38385441_G->A 10 38385441 38385441 G A snp 2494.77 0/1 99 213 101 112 0.53 intronic rs2474573 ZNF37A AU 0.46865 0.5585 Uncertain 10_38407519_A->G 10 38407519 38407519 A G snp 154.77 0/1 99 15 6 9 0.6 exonic rs176889 ZNF37A AU synonymous SNV NM_001178101 exon7 c.A1440G p.S480S 0.46905 0.5595 0.495156 0.4560 0.5486 Uncertain 10_38537070_A->G 10 38537070 38537070 A G snp 243.77 0/1 99 23 14 9 0.39 intergenic rs1780145 LOC100129055 AU 0.399561 0.5218 Uncertain 10_38599101_-->T 10 38599101 38599101 - T indel 1101.73 0/1 99 81 47 34 0.42 intergenic rs34686283 LOC100129055 AU 0.442492 0.5258 Uncertain 10_38638948_G->A 10 38638948 38638948 G A snp 263.77 0/1 99 81 55 26 0.32 intergenic rs11815474 LOC100129055 AU 0.0229633 Uncertain 10_38645343_C->T 10 38645343 38645343 C T snp 136.77 0/1 99 142 120 22 0.15 ncRNA_exonic rs68021090 HSD17B7P2 AU 0.3919 0.3392 Uncertain 10_38645403_T->C 10 38645403 38645403 T C snp 1897.77 0/1 99 167 78 89 0.53 ncRNA_exonic rs2262083 HSD17B7P2 AU 0.501597 0.5724 0.5274 0.6033 Uncertain 10_38647171_C->G 10 38647171 38647171 C G snp 129.77 0/1 99 18 13 5 0.28 ncRNA_intronic rs2800473 HSD17B7P2 AU 0.442492 0.5258 Uncertain 10_38650104_A->G 10 38650104 38650104 A G snp 300.77 0/1 99 20 10 10 0.5 ncRNA_intronic rs2804643 HSD17B7P2 AU 0.442492 0.5258 Uncertain 10_38667003_A->G 10 38667003 38667003 A G snp 1204.77 0/1 99 132 74 58 0.44 ncRNA_exonic rs2804622 HSD17B7P2 AU 0.441893 0.5258 Uncertain 10_38672144_A->C 10 38672144 38672144 A C snp 1713.77 0/1 99 212 132 80 0.38 ncRNA_exonic rs3087759 SEPT7P9 AU 0.227236 0.2946 0.1902 0.2801 0 D 0.0 P -1.055 T Uncertain 10_38740353_T->C 10 38740353 38740353 T C snp 38.77 0/1 67 9 5 4 0.44 ncRNA_exonic rs2754385 LINC00999 AU 0.470248 0.5268 Uncertain 10_42905431_A->T 10 42905431 42905431 A T snp 806.77 1/1 60 25 1 24 0.96 ncRNA_exonic rs3004228 CCNYL2 AU 0.86262 0.8433 Uncertain 10_42905510_A->C 10 42905510 42905510 A C snp 2500.77 1/1 99 95 0 95 1.0 ncRNA_exonic rs2419684 CCNYL2 AU 0.923522 0.8452 0.9125 0.8796 Uncertain 10_42907201_G->A 10 42907201 42907201 G A snp 2471.77 0/1 99 214 109 105 0.49 ncRNA_exonic rs2505860 CCNYL2 AU 0.350439 0.255 0.4574 0.2992 1.000 P -0.941 T Uncertain 10_42907260_T->C 10 42907260 42907260 T C snp 1731.77 0/1 99 174 97 77 0.44 ncRNA_exonic rs2505861 CCNYL2 AU 0.370807 0.255 0.4603 0.3025 1 T 0.000 P -0.961 T Uncertain 10_42920832_G->A 10 42920832 42920832 G A snp 695.77 0/1 99 69 39 30 0.43 ncRNA_exonic rs2505872 CCNYL2 AU 0.371006 0.254 0.4640 0.2996 1.000 P -0.933 T Uncertain 10_42920884_C->T 10 42920884 42920884 C T snp 715.77 0/1 99 68 36 32 0.47 ncRNA_exonic rs2489720 CCNYL2 AU 0.352636 0.2629 0.4565 0.3086 0.38 T 0.984 P -0.936 T Uncertain 10_42928605_T->G 10 42928605 42928605 T G snp 756.77 0/1 99 54 23 31 0.57 ncRNA_intronic rs2000380 CCNYL2 AU 0.339058 0.254 Uncertain 10_42928814_G->A 10 42928814 42928814 G A snp 50.77 0/1 79 78 61 17 0.22 ncRNA_intronic rs112881188 CCNYL2 AU 5.26e-05 0 Uncertain 10_42928826_A->T 10 42928826 42928826 A T snp 56.77 0/1 85 71 55 16 0.23 ncRNA_intronic CCNYL2 AU Uncertain 10_42928842_A->T 10 42928842 42928842 A T snp 30.77 0/1 59 56 45 11 0.2 ncRNA_intronic CCNYL2 AU Uncertain 10_42928879_G->A 10 42928879 42928879 G A snp 30.77 0/1 59 29 25 4 0.14 ncRNA_intronic CCNYL2 AU Uncertain 10_42928885_G->A 10 42928885 42928885 G A snp 39.77 0/1 68 22 18 4 0.18 ncRNA_intronic rs751891770 CCNYL2 AU Uncertain 10_42941616_C->T 10 42941616 42941616 C T snp 301.77 0/1 99 32 16 16 0.5 ncRNA_intronic rs11239557 CCNYL2 AU 0.0786741 0.1845 0.0299 0.2203 Uncertain 10_42941685_-->A 10 42941685 42941685 - A indel 377.73 0/1 99 31 14 17 0.55 ncRNA_intronic rs11455507 CCNYL2 AU 0.354233 0.254 0.4599 0.2989 Uncertain 10_42947194_T->C 10 42947194 42947194 T C snp 30.77 0/1 59 39 32 7 0.18 ncRNA_intronic CCNYL2 AU Uncertain 10_42947270_A->G 10 42947270 42947270 A G snp 60.77 0/1 89 6 3 3 0.5 ncRNA_intronic CCNYL2 AU Uncertain 10_42947275_C->A 10 42947275 42947275 C A snp 63.77 0/1 69 5 2 3 0.6 ncRNA_intronic CCNYL2 AU Uncertain 10_42949664_A->T 10 42949664 42949664 A T snp 2137.77 0/1 99 194 101 93 0.48 ncRNA_intronic rs2490085 CCNYL2 AU 0.374601 0.255 0.3969 0.2943 1 T 0.0 P -0.970 T Uncertain 10_42949714_T->C 10 42949714 42949714 T C snp 43.77 0/1 72 216 189 27 0.13 ncRNA_intronic CCNYL2 AU 0.21 T 1.000 N -1.018 T Uncertain 10_42949719_G->T 10 42949719 42949719 G T snp 79.77 0/1 99 219 191 28 0.13 ncRNA_intronic CCNYL2 AU 0.12 T 1 N -1.010 T Uncertain 10_42949722_C->A 10 42949722 42949722 C A snp 75.77 0/1 99 216 188 28 0.13 ncRNA_intronic CCNYL2 AU 0.03 T 1.000 N -0.985 T Uncertain 10_42949757_T->G 10 42949757 42949757 T G snp 179.77 0/1 99 222 188 34 0.15 ncRNA_intronic rs76723897 CCNYL2 AU 1.03e-05 0 0.39 T 1 N -1.006 T Uncertain 10_42949768_T->C 10 42949768 42949768 T C snp 198.77 0/1 99 212 178 34 0.16 ncRNA_intronic rs73251888 CCNYL2 AU 0.0201677 0.0062 0 Uncertain 10_42949773_G->T 10 42949773 42949773 G T snp 201.77 0/1 99 205 171 34 0.17 ncRNA_intronic rs546667273 CCNYL2 AU 0.000399361 7.036e-05 0 0.38 T 1 N -1.027 T Uncertain 10_42949782_G->C 10 42949782 42949782 G C snp 170.77 0/1 99 196 162 34 0.17 ncRNA_intronic CCNYL2 AU 0.67 T 1.000 N -0.999 T Uncertain 10_42949787_C->T 10 42949787 42949787 C T snp 98.77 0/1 99 195 163 32 0.16 ncRNA_intronic CCNYL2 AU 0.34 T 1.000 N -1.015 T Uncertain 10_42949789_A->G 10 42949789 42949789 A G snp 116.77 0/1 99 192 163 29 0.15 ncRNA_intronic CCNYL2 AU Uncertain 10_42949797_C->T 10 42949797 42949797 C T snp 129.77 0/1 99 191 159 32 0.17 ncRNA_intronic CCNYL2 AU 0.12 T 0.999 N -1.010 T Uncertain 10_42949811_C->A 10 42949811 42949811 C A snp 67.77 0/1 96 179 152 27 0.15 ncRNA_intronic rs780654552 CCNYL2 AU 0.0003 0 0.01 T 0.767 D -0.742 T Uncertain 10_42949828_T->C 10 42949828 42949828 T C snp 55.77 0/1 84 161 140 21 0.13 ncRNA_intronic rs200497651 CCNYL2 AU Uncertain 10_42949838_T->C 10 42949838 42949838 T C snp 81.77 0/1 99 147 128 19 0.13 ncRNA_intronic CCNYL2 AU Uncertain 10_42949839_G->A 10 42949839 42949839 G A snp 77.77 0/1 99 144 126 18 0.13 ncRNA_intronic CCNYL2 AU Uncertain 10_42949858_T->C 10 42949858 42949858 T C snp 132.77 0/1 99 119 101 18 0.15 ncRNA_intronic CCNYL2 AU Uncertain 10_42949867_T->C 10 42949867 42949867 T C snp 144.77 0/1 99 105 91 14 0.13 ncRNA_intronic CCNYL2 AU Uncertain 10_42949880_G->T 10 42949880 42949880 G T snp 71.77 0/1 99 92 81 11 0.12 ncRNA_intronic CCNYL2 AU Uncertain 10_42965636_C->T 10 42965636 42965636 C T snp 1308.77 0/1 99 111 51 60 0.54 ncRNA_exonic rs1255411 CCNYL2 AU 0.693291 0.6448 Uncertain 10_43089965_G->A 10 43089965 43089965 G A snp 1992.77 1/1 99 75 0 75 1.0 exonic rs210280 ZNF33B AU nonsynonymous SNV NM_001305033 exon4 c.C454T p.R152C 0.727037 0.873 0.772615 0.7984 0.8650 0.74 T 0.0 P -1.033 T 0.0 T 0.0 T Pathogenic 10_43119123_G->T 10 43119123 43119123 G T snp 1696.77 1/1 99 69 0 69 1.0 intronic rs158377 ZNF33B AU NM_001305033 exon2 c.39316-8253G>T 0.51258 0.6617 Uncertain 10_43119159_T->C 10 43119159 43119159 T C snp 1496.77 1/1 99 58 0 58 1.0 intronic rs158378 ZNF33B AU NM_001305033 exon2 c.39316-8217T>C 0.510583 0.6617 Uncertain 10_43128395_C->G 10 43128395 43128395 C G snp 1475.77 1/1 99 40 0 40 1.0 intronic rs209391 ZNF33B AU NM_001305033 exon3 c.39827+508C>G 0.880192 0.9742 Uncertain 10_43132156_C->T 10 43132156 43132156 C T snp 180.9 1/1 15 5 0 5 1.0 intronic rs209388 ZNF33B AU NM_001305035 exon5 c.44307-211C>T 0.815495 0.9643 Uncertain 10_43132232_A->G 10 43132232 43132232 A G snp 1296.77 1/1 96 35 0 35 1.0 intronic rs209387 ZNF33B AU NM_001305035 exon5 c.44307-135A>G 0.789736 0.9643 Uncertain 10_43232450_G->A 10 43232450 43232450 G A snp 4043.77 1/1 99 155 0 155 1.0 intergenic rs702370 LINC01518 AU 0.595647 0.5198 Uncertain 10_43280058_TT->- 10 43280058 43280059 TT - indel 5412.73 1/1 99 140 0 140 1.0 intronic rs397828729 BMS1 AR,AD NM_014753 exon2 c.176+40_176+41delTT 1 1 0.999920 1 1 Uncertain 10_43281089_T->C 10 43281089 43281089 T C snp 4100.77 1/1 99 156 0 156 1.0 exonic rs7074877 BMS1 AR,AD synonymous SNV NM_014753 exon3 c.T336C p.T112T 0.561102 0.6359 0.460634 0.4641 0.6459 Uncertain 10_43326627_A->C 10 43326627 43326627 A C snp 307.78 1/1 24 8 0 8 1.0 UTR3 rs7133 BMS1 AR,AD 0.491414 0.626 Uncertain 10_43572950_A->G 10 43572950 43572950 A G snp 301.78 1/1 24 8 0 8 1.0 intronic rs12246855 RET AD NM_020975 exon1 c.73+171A>G 0.757987 0.5179 Uncertain 10_43572951_A->C 10 43572951 43572951 A C snp 292.78 1/1 24 8 0 8 1.0 intronic rs12246856 RET AD NM_020975 exon1 c.73+172A>C 0.757987 0.5179 Uncertain 10_43595781_G->T 10 43595781 43595781 G T snp 415.77 0/1 99 22 9 13 0.59 intronic rs2565206 RET AD NM_020975 exon2 c.23200-125G>T 0.339457 0.1002 ID=CS045982;DIS=Thyroid cancer, association with;TAG=DP;PUB=15142370 DP Uncertain 10_43595837_T->- 10 43595837 43595837 T - indel 345.74 0/1 99 54 28 26 0.48 intronic rs57003029 RET AD NM_020975 exon2 c.23200-69delT 0.292732 0.1984 Uncertain 10_43595968_A->G 10 43595968 43595968 A G snp 3877.77 1/1 99 148 0 148 1.0 exonic rs1800858 RET AD synonymous SNV NM_020975 exon2 c.A135G p.A45A 0.753594 0.5268 0.809165 0.7365 0.5491 CLINSIG=other|non-pathogenic,non-pathogenic;CLNDBN=Hirschsprung_disease_1|not_provided,not_specified;CLNREVSTAT=no_assertion_criteria_provided|criteria_provided\x2c_single_submitter,no_assertion_criteria_provided;CLNACC=RCV000014967.1|RCV000127776.1,RCV000153833.3;CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet|MedGen,MedGen;CLNDSDBID=NBK1439:C2931876:142623:ORPHA388|CN221809,CN169374 ID=COSM4144677;OCCURENCE=1(thyroid) ID=CM020759;DIS=Hirschsprung disease, association with;TAG=DP;PUB=10528857 DP Uncertain 10_43600689_A->G 10 43600689 43600689 A G snp 1872.77 0/1 99 146 67 79 0.54 intronic rs2435352 RET AD NM_020975 exon4 c.27935+48A>G 0.390974 0.4206 0.372978 0.4274 0.4307 ID=CS032425;DIS=Hirschsprung disease, association with;TAG=DP;PUB=12872262 DP Uncertain 10_43601749_T->C 10 43601749 43601749 T C snp 54.74 1/1 6 2 0 2 1.0 intronic rs2742243 RET AD NM_020975 exon5 c.29117-74T>C 0.728435 0.5198 Uncertain 10_43604390_A->T 10 43604390 43604390 A T snp 981.77 1/1 72 32 0 32 1.0 intronic rs1864404 RET AD NM_020975 exon6 c.31772-88A>T 0.751997 0.5198 Uncertain 10_43606687_A->G 10 43606687 43606687 A G snp 2956.77 0/1 99 250 133 117 0.47 exonic rs1800860 RET AD synonymous SNV NM_020975 exon7 c.A1296G p.A432A 0.77516 0.8006 0.748578 0.7061 0.8075 CLINSIG=non-pathogenic|non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided|Hereditary_cancer-predisposing_syndrome;CLNREVSTAT=criteria_provided\x2c_single_submitter|criteria_provided\x2c_single_submitter|criteria_provided\x2c_single_submitter;CLNACC=RCV000082048.3|RCV000127778.1|RCV000131068.2;CLNDSDB=MedGen|MedGen|MedGen:SNOMED_CT;CLNDSDBID=CN169374|CN221809|C0027672:699346009 ID=CM033447;DIS=Hirschsprung disease, association with;TAG=DP;PUB=14627689 DP Uncertain 10_43607756_G->A 10 43607756 43607756 G A snp 339.78 1/1 27 12 0 12 1.0 intronic rs3026750 RET AD NM_020975 exon8 c.34966+84G>A 0.701677 0.496 Uncertain 10_43607760_C->- 10 43607760 43607760 C - indel 507.73 1/1 36 12 0 12 1.0 intronic rs34827976 RET AD NM_020975 exon8 c.34966+88delC 0.70008 0.4911 Uncertain 10_43611865_T->C 10 43611865 43611865 T C snp 40.77 0/1 69 5 3 2 0.4 intronic rs2256550 RET AD NM_020975 exon12 c.39325-166T>C 0.469449 0.256 Uncertain 10_43613843_G->T 10 43613843 43613843 G T snp 2661.77 1/1 99 102 1 101 0.99 exonic rs1800861 RET AD synonymous SNV NM_020975 exon13 c.G2307T p.L769L 0.71246 0.4742 0.802630 0.7419 0.4999 CLINSIG=non-pathogenic|non-pathogenic|non-pathogenic,non-pathogenic;CLNDBN=No_MEN2_disease|not_provided|not_specified,not_specified;CLNREVSTAT=no_assertion_criteria_provided|criteria_provided\x2c_single_submitter|criteria_provided\x2c_single_submitter,criteria_provided\x2c_single_submitter;CLNACC=RCV000021844.1|RCV000127779.1|RCV000154625.1,RCV000153835.3;CLNDSDB=.|MedGen|MedGen,MedGen;CLNDSDBID=.|CN221809|CN169374,CN169374 ID=CM014825;DIS=Hirschsprung disease, association with;TAG=DP;PUB=10528857 DP Uncertain 10_43620551_G->A 10 43620551 43620551 G A snp 227.77 0/1 99 16 9 7 0.44 intronic rs2742236 RET AD NM_020975 exon18 c.47724+121G>A 0.459465 0.2569 Uncertain 10_43622217_T->C 10 43622217 43622217 T C snp 5283.77 1/1 99 216 1 215 1.0 intronic rs2075912 RET AD NM_020975 exon19 c.49464+47T>C 0.754992 0.4762 0.853330 0.8031 0.5352 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000151742.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 ID=CS032426;DIS=Hirschsprung disease, association with;TAG=DP;PUB=12872262 DP Uncertain 10_43622368_T->A 10 43622368 43622368 T A snp 77.77 0/1 99 7 4 3 0.43 intronic rs2075913 RET AD NM_020975 exon19 c.49464+198T>A 0.660743 0.379 Uncertain 10_43657481_T->G 10 43657481 43657481 T G snp 632.77 0/1 99 41 16 25 0.61 intronic rs78388409 CSGALNACT2 AU NM_018590 exon4 c.5446+1438T>G 0.0359425 0.1002 Uncertain 10_43657811_T->G 10 43657811 43657811 T G snp 508.77 1/1 39 15 0 15 1.0 intronic rs2257767 CSGALNACT2 AU NM_018590 exon5 c.8716-1502T>G 0.769569 0.4821 Uncertain 10_43659536_C->T 10 43659536 43659536 C T snp 742.77 0/1 99 66 36 30 0.45 intronic rs2503865 CSGALNACT2 AU NM_018590 exon5 c.8895+44C>T 0.668131 0.3819 0.788867 0.7242 0.4126 Uncertain 10_43671379_T->- 10 43671379 43671379 T - indel 335.73 1/1 45 16 0 16 1.0 intronic rs398013310 CSGALNACT2 AU NM_018590 exon7 c.20801-19delT 0.647364 0.496 0.6787 0.5366 Uncertain 10_43694363_-->A 10 43694363 43694363 - A indel 686.73 0/1 99 46 27 19 0.41 intronic rs35825252 RASGEF1A AU NM_145313 exon5 c.2689-17insA 0.539736 0.7411 0.4920 0.7006 Uncertain 10_43695049_T->C 10 43695049 43695049 T C snp 2085.77 0/1 99 146 61 85 0.58 intronic rs1254964 RASGEF1A AU NM_145313 exon7 c.3432-74T>C 0.826677 0.9395 Uncertain 10_43695861_C->T 10 43695861 43695861 C T snp 334.77 0/1 99 21 11 10 0.48 intronic rs77562345 RASGEF1A AU NM_145313 exon8 c.4013+157C>T 0.0357428 0.1002 Uncertain 10_43696279_A->G 10 43696279 43696279 A G snp 2155.77 0/1 99 197 102 95 0.48 exonic rs41301585 RASGEF1A AU synonymous SNV NM_001282862 exon5 c.T541C p.L181L 0.08127 0.1002 0.054436 0.0705 0.0957 1.0 P -1.018 T Likely benign 10_43698920_G->C 10 43698920 43698920 G C snp 1613.77 0/1 99 113 45 68 0.6 intronic rs116895303 RASGEF1A AU NM_145313 exon11 c.7177+52G>C 0.0347444 0.1002 0.000827 0.0204 0.1070 Uncertain 10_43698980_C->G 10 43698980 43698980 C G snp 640.77 0/1 99 41 19 22 0.54 intronic rs1254961 RASGEF1A AU NM_145313 exon11 c.7177+112C>G 0.611621 0.7401 Uncertain 10_43701471_C->T 10 43701471 43701471 C T snp 630.77 0/1 99 64 35 29 0.45 exonic rs117610424 RASGEF1A AU nonsynonymous SNV NM_001282862 exon2 c.G118A p.G40S 0.0355431 0.0992 0.001154 0.0223 0.1112 0.43 T 1 N -1.106 T 0.0 T 0.0 T Pathogenic 10_43701478_G->A 10 43701478 43701478 G A snp 571.77 0/1 99 60 34 26 0.43 exonic rs74509719 RASGEF1A AU synonymous SNV NM_001282862 exon2 c.C111T p.G37G 0.0353435 0.0982 0.000846 0.0221 0.1124 Uncertain 10_43869097_C->A 10 43869097 43869097 C A snp 1099.77 1/1 81 34 0 34 1.0 splicing rs10899795 FXYD4 AU NM_173160 exon3 c.37-134C>A 0.379393 0.4256 Pathogenic 10_43932479_A->G 10 43932479 43932479 A G snp 783.77 1/1 57 25 0 25 1.0 upstream rs2244396 ZNF487 AU 0.996006 1 Uncertain 10_43978087_A->G 10 43978087 43978087 A G snp 2116.77 1/1 99 75 0 75 1.0 downstream rs3750890 ZNF487 AU 0.470447 0.6974 0.5817 0.7439 Uncertain 10_43991255_C->T 10 43991255 43991255 C T snp 254.8 1/1 21 7 0 7 1.0 intergenic rs9422519 ZNF487 AU 0.723642 0.9196 Uncertain 10_44052903_A->C 10 44052903 44052903 A C snp 3015.77 0/1 99 190 78 112 0.59 exonic rs2230661 ZNF239 AU nonsynonymous SNV NM_001099283 exon2 c.T625G p.C209G 0.544928 0.5506 0.533906 0.5573 0.5554 0.01 T 0.843 P -0.961 T 0.998 D 0.991 D Pathogenic 10_44053013_G->C 10 44053013 44053013 G C snp 3239.77 0/1 99 239 115 124 0.52 exonic rs2230660 ZNF239 AU nonsynonymous SNV NM_001099283 exon2 c.C515G p.A172G 0.533355 0.5572 0.5560 0.02 T 0.0 P -0.992 T 0.501 P 0.118 P Pathogenic 10_44053585_C->T 10 44053585 44053585 C T snp 1568.77 0/1 99 107 40 67 0.63 UTR5 rs2999278 ZNF239 AU 0.544928 0.5506 Uncertain 10_44103895_T->C 10 44103895 44103895 T C snp 117.8 0/1 21 5 1 4 0.8 intronic rs10793451 ZNF485 AU NM_145312 exon3 c.1563-166T>C 0.535942 0.7609 Uncertain 10_44103923_G->C 10 44103923 44103923 G C snp 343.78 1/1 27 11 0 11 1.0 intronic rs3128239 ZNF485 AU NM_145312 exon3 c.1563-138G>C 1 1 Uncertain 10_44104513_C->A 10 44104513 44104513 C A snp 322.77 0/1 99 22 9 13 0.59 intronic rs7342073 ZNF485 AU NM_145312 exon4 c.2204-189C>A 0.716054 0.7639 Uncertain 10_44111629_T->G 10 44111629 44111629 T G snp 116.77 0/1 99 17 12 5 0.29 intronic ZNF485 AU NM_145312 exon5 c.9240-109T>G Uncertain 10_44285777_T->C 10 44285777 44285777 T C snp 1344.77 1/1 96 50 0 50 1.0 ncRNA_exonic rs3750724 HNRNPA3P1 AU 0.452875 0.627 0.3876 0.6573 Uncertain 10_44285921_C->T 10 44285921 44285921 C T snp 319.78 1/1 24 12 0 12 1.0 upstream rs3750725 HNRNPA3P1 AU 0.257388 0.4692 Uncertain 10_44793355_G->A 10 44793355 44793355 G A snp 1129.77 0/1 99 103 58 45 0.44 intergenic rs56043323 C10orf142 AU 0.100439 0.1121 0.1168 0.0909 Uncertain 10_44868856_A->C 10 44868856 44868856 A C snp 5268.77 1/1 99 181 0 181 1.0 intronic rs266091 CXCL12 AU NM_000609 exon1 c.16+65A>C 0.834265 0.869 0.818879 Uncertain 10_44874253_C->T 10 44874253 44874253 C T snp 466.77 0/1 99 43 25 18 0.42 intronic rs266085 CXCL12 AU NM_000609 exon2 c.5396+82C>T 0.373802 0.5546 Uncertain 10_45423282_C->G 10 45423282 45423282 C G snp 137.77 0/1 99 13 8 5 0.38 ncRNA_intronic rs10900131 TMEM72-AS1 AU 0.432308 0.3214 Uncertain 10_45423466_C->T 10 45423466 45423466 C T snp 1597.77 0/1 99 136 70 66 0.49 ncRNA_intronic rs17157260 TMEM72-AS1 AU 0.095647 0.3056 0.002136 0.0457 0.3223 Uncertain 10_45430462_C->T 10 45430462 45430462 C T snp 959.77 0/1 99 98 54 44 0.45 exonic rs17417442 TMEM72 AU synonymous SNV NM_001123376 exon5 c.C708T p.A236A 0.333466 0.3274 0.394078 0.3861 0.3025 Uncertain 10_45466726_G->A 10 45466726 45466726 G A snp 77.77 0/1 67 5 2 3 0.6 intronic rs4948938 RASSF4 AU NM_032023 exon3 c.1570-494G>A 0.592652 0.4573 Uncertain 10_45467099_C->T 10 45467099 45467099 C T snp 1306.77 0/1 99 112 61 51 0.46 intronic rs2274885 RASSF4 AU NM_032023 exon3 c.1570-121C>T 0.0744808 0.2292 0.0591 0.3032 0 D 0.0 P -1.054 T 0.0 T 0.0 T Uncertain 10_45473317_C->T 10 45473317 45473317 C T snp 2991.77 0/1 99 250 136 114 0.46 exonic rs3740094 C10orf10 AU synonymous SNV NM_007021 exon2 c.G162A p.L54L 0.147564 0.3056 0.120597 0.1635 0.2982 Uncertain 10_45473552_C->T 10 45473552 45473552 C T snp 74.77 0/1 99 8 5 3 0.38 intronic rs11818604 C10orf10 AU NM_007021 exon1 c.664+49C>T 0.474241 0.3452 Uncertain 10_45488943_C->G 10 45488943 45488943 C G snp 723.77 0/1 99 62 33 29 0.47 UTR3 rs3814569 RASSF4 AU 0.0836661 0.1954 Uncertain 10_45496120_A->T 10 45496120 45496120 A T snp 2951.77 0/1 99 243 119 124 0.51 exonic rs12269028 C10orf25 AU nonsynonymous SNV NM_001039380 exon1 c.T188A p.I63N 0.460463 0.371 0.539597 0.5984 0.3675 0 D 0.000 P -0.934 T 0.981 D 0.654 D Pathogenic 10_45799168_A->G 10 45799168 45799168 A G snp 2221.77 0/1 99 180 95 85 0.47 exonic OR13A1 AU nonsynonymous SNV NM_001004297 exon4 c.T703C p.S235P 0.000399361 0.002 0.000077 6.607e-05 0.0003 0 D 0.968 D 0.108 D 1.0 D 1.0 D Pathogenic 10_45891484_A->G 10 45891484 45891484 A G snp 3130.77 1/1 99 108 1 107 0.99 intronic ALOX5 AU,AD NM_000698 exon3 c.21657+100A>G 0.395966 0.5972 Uncertain 10_45924023_G->A 10 45924023 45924023 G A snp 825.77 0/1 99 74 39 35 0.47 intronic ALOX5 AU,AD NM_000698 exon7 c.54338-42G>A 0.791733 0.8095 0.800630 0.7651 0.8168 Uncertain 10_45924256_T->C 10 45924256 45924256 T C snp 125.77 0/1 99 21 16 5 0.24 intronic ALOX5 AU,AD NM_000698 exon7 c.54485+44T>C 0.746206 0.8105 0.752576 0.7479 0.8173 Uncertain 10_45935744_C->T 10 45935744 45935744 C T snp 262.77 0/1 99 16 6 10 0.63 intronic ALOX5 AU,AD NM_000698 exon8 c.66150-133C>T 0.507188 0.6359 Uncertain 10_45939136_T->C 10 45939136 45939136 T C snp 1216.77 0/1 99 132 74 58 0.44 intronic ALOX5 AU,AD NM_000698 exon12 c.69448-39T>C 0.786542 0.7907 0.794290 0.7620 0.7991 Uncertain 10_46241981_C->A 10 46241981 46241981 C A snp 2654.77 0/1 99 222 114 108 0.49 intronic FAM21C AU NM_001169107 exon8 c.19282-66C>A 0.0115815 0.0556 Uncertain 10_46960084_G->A 10 46960084 46960084 G A snp 332.77 0/1 99 148 125 23 0.16 UTR3 SYT15 AU Uncertain 10_46963738_A->G 10 46963738 46963738 A G snp 882.77 0/1 99 59 30 29 0.49 intronic SYT15 AU NM_181519 exon3 c.3871-101A>G 0.522764 0.5069 Uncertain 10_46964884_G->A 10 46964884 46964884 G A snp 424.77 0/1 99 131 109 22 0.17 intronic SYT15 AU NM_181519 exon4 c.5033-117G>A Uncertain 10_46965018_C->G 10 46965018 46965018 C G snp 1605.77 0/1 99 250 183 67 0.27 exonic SYT15 AU nonsynonymous SNV NM_031912 exon6 c.G927C p.E309D 0.467141 0.4793 0.4027 1 T 0.000 P -1.062 T 0.001 T 0.015 T Pathogenic 10_46965220_T->C 10 46965220 46965220 T C snp 386.77 0/1 99 23 11 12 0.52 intronic SYT15 AU NM_181519 exon4 c.5154+98T>C 0.51897 0.501 Uncertain 10_46965727_G->A 10 46965727 46965727 G A snp 1009.77 0/1 99 250 196 54 0.22 exonic SYT15 AU synonymous SNV NM_031912 exon5 c.C810T p.A270A 0.520700 0.5069 0.4788 Uncertain 10_46965988_C->T 10 46965988 46965988 C T snp 292.77 0/1 99 26 15 11 0.42 intronic SYT15 AU NM_181519 exon5 c.5917+103C>T Uncertain 10_46967672_C->T 10 46967672 46967672 C T snp 3035.77 0/1 99 249 136 113 0.45 exonic SYT15 AU synonymous SNV NM_031912 exon4 c.G405A p.P135P 0.542647 0.5135 0.5024 Uncertain 10_46968762_C->G 10 46968762 46968762 C G snp 1436.77 0/1 99 113 53 60 0.53 intronic SYT15 AU NM_181519 exon7 c.8755+39C>G 0.524985 0.5103 0.5026 Uncertain 10_46969496_A->G 10 46969496 46969496 A G snp 2765.77 0/1 99 223 105 118 0.53 intronic SYT15 AU NM_181519 exon8 c.9485+43A>G 0.5126 0.5061 Uncertain 10_46970573_C->G 10 46970573 46970573 C G snp 448.77 0/1 99 36 18 18 0.5 UTR5 SYT15 AU 0.4411 0.5 Uncertain 10_46970654_C->A 10 46970654 46970654 C A snp 660.77 0/1 99 56 25 31 0.55 upstream SYT15 AU 0.5103 0.5081 Uncertain 10_46970792_G->C 10 46970792 46970792 G C snp 353.77 0/1 99 32 14 18 0.56 upstream SYT15 AU 0.498802 0.4881 0.5026 0.5 Uncertain 10_46998720_TCAC->- 10 46998720 46998723 TCAC - indel 982.73 0/1 99 36 19 17 0.47 intronic rs66608669 GPRIN2 AU 0.502196 0.5 Uncertain 10_46998795_A->G 10 46998795 46998795 A G snp 2499.77 0/1 99 168 71 97 0.58 intronic GPRIN2 AU Uncertain 10_46998894_G->A 10 46998894 46998894 G A snp 4233.77 0/1 99 224 49 175 0.78 exonic GPRIN2 AU nonsynonymous SNV NM_014696 exon3 c.G14A p.R5H 0.5019 0.5019 0.42 T 1 N -0.917 T 0.004 T 0.002 T Pathogenic 10_46998995_C->G 10 46998995 46998995 C G snp 1868.77 0/1 99 166 86 80 0.48 exonic GPRIN2 AU nonsynonymous SNV NM_014696 exon3 c.C115G p.L39V 0.4833 0.4968 0.02 T 0.827 N -0.965 T 0.875 T 0.545 P Pathogenic 10_46998999_G->A 10 46998999 46998999 G A snp 2110.77 0/1 99 161 78 83 0.52 exonic GPRIN2 AU nonsynonymous SNV NM_014696 exon3 c.G119A p.R40H 0.5028 0.5005 0.12 T 0.970 N -0.873 T 0.116 T 0.025 T Pathogenic 10_46999019_G->A 10 46999019 46999019 G A snp 2202.77 0/1 99 174 82 92 0.53 exonic GPRIN2 AU nonsynonymous SNV NM_014696 exon3 c.G139A p.V47M 0.5020 0.5005 0.1 T 1.000 N -1.062 T 1.0 D 0.882 D Pathogenic 10_46999030_C->T 10 46999030 46999030 C T snp 1863.77 0/1 99 171 94 77 0.45 exonic GPRIN2 AU synonymous SNV NM_014696 exon3 c.C150T p.A50A 0.4829 0.4968 Uncertain 10_46999151_T->C 10 46999151 46999151 T C snp 2419.77 0/1 99 186 84 102 0.55 exonic GPRIN2 AU nonsynonymous SNV NM_014696 exon3 c.T271C p.W91R 0.5017 0.5 1 T 1 N -0.916 T 0.0 T 0.0 T Pathogenic 10_46999178_A->C 10 46999178 46999178 A C snp 2276.77 0/1 99 199 108 91 0.46 exonic GPRIN2 AU nonsynonymous SNV NM_014696 exon3 c.A298C p.T100P 0.4838 0.4972 0.14 T 1 N -0.956 T 0.001 T 0.004 T Pathogenic 10_46999189_C->T 10 46999189 46999189 C T snp 2742.77 0/1 99 206 95 111 0.54 exonic GPRIN2 AU synonymous SNV NM_014696 exon3 c.C309T p.G103G 0.49361 0.497 0.5016 0.4998 Uncertain 10_46999190_A->G 10 46999190 46999190 A G snp 6058.77 1/1 99 207 0 207 1.0 exonic GPRIN2 AU nonsynonymous SNV NM_014696 exon3 c.A310G p.S104G 0.910942 0.9603 0.8939 0.9484 1 T 0.0 P -1.043 T 0.0 T 0.001 T Pathogenic 10_46999198_G->T 10 46999198 46999198 G T snp 2757.77 0/1 99 215 100 115 0.53 exonic GPRIN2 AU synonymous SNV NM_014696 exon3 c.G318T p.L106L 0.5019 0.5001 Uncertain 10_46999465_A->G 10 46999465 46999465 A G snp 3098.77 0/1 99 250 131 119 0.48 exonic GPRIN2 AU synonymous SNV NM_014696 exon3 c.A585G p.S195S 0.5021 0.5001 Uncertain 10_46999484_G->T 10 46999484 46999484 G T snp 3490.77 0/1 99 250 119 131 0.52 exonic GPRIN2 AU nonsynonymous SNV NM_014696 exon3 c.G604T p.G202W 0.4828 0.4960 0.04 T 1 N -0.957 T 0.999 D 0.988 D Pathogenic 10_46999577_G->T 10 46999577 46999577 G T snp 3546.77 0/1 99 250 109 141 0.56 exonic GPRIN2 AU nonsynonymous SNV NM_014696 exon3 c.G697T p.A233S 0.439874 0.4850 0.4971 0.57 T 1 N -0.898 T 0.562 P 0.346 P Pathogenic 10_46999591_-->ATGAGGGAG 10 46999591 46999591 - ATGAGGGAG indel 9586.73 0/1 99 250 148 102 0.41 exonic rs112620425 GPRIN2 AU nonframeshift insertion NM_014696 exon3 c.711_712insATGAGGGAG p.G237delinsGMRE 0.479034 0.4782 0.483703 0.5014 0.4999 Uncertain 10_46999596_G->A 10 46999596 46999596 G A snp 3724.77 0/1 99 250 106 144 0.58 exonic GPRIN2 AU nonsynonymous SNV NM_014696 exon3 c.G716A p.R239K 0.39397 0.4663 0.4831 0.4970 1 T 1 N -0.976 T 0.341 T 0.107 T Pathogenic 10_46999604_A->G 10 46999604 46999604 A G snp 7303.77 1/1 99 247 0 247 1.0 exonic GPRIN2 AU nonsynonymous SNV NM_014696 exon3 c.A724G p.R242G 0.807308 0.9137 0.8852 0.9479 0.82 T 1 N -0.937 T 0.0 T 0.0 T Pathogenic 10_46999732_G->A 10 46999732 46999732 G A snp 3556.77 0/1 99 248 106 142 0.57 exonic GPRIN2 AU synonymous SNV NM_014696 exon3 c.G852A p.G284G 0.444795 0.4838 0.4970 Uncertain 10_46999747_T->C 10 46999747 46999747 T C snp 2524.77 0/1 99 250 133 117 0.47 exonic GPRIN2 AU synonymous SNV NM_014696 exon3 c.T867C p.H289H 0.5017 0.5007 Uncertain 10_46999922_G->T 10 46999922 46999922 G T snp 2314.77 0/1 99 166 73 93 0.56 exonic GPRIN2 AU nonsynonymous SNV NM_014696 exon3 c.G1042T p.V348L 0.3785 0.4972 0 D 1.000 D -0.888 T 0.999 D 0.994 D Pathogenic 10_47000004_T->C 10 47000004 47000004 T C snp 6834.77 1/1 99 250 0 250 1.0 exonic GPRIN2 AU nonsynonymous SNV NM_014696 exon3 c.T1124C p.V375A 0.945887 0.999 0.951407 0.9861 0.9995 1 T 0.0 P -1.001 T 0.0 T 0.0 T Pathogenic 10_47000071_G->A 10 47000071 47000071 G A snp 3269.77 0/1 99 250 122 128 0.51 exonic GPRIN2 AU synonymous SNV NM_014696 exon3 c.G1191A p.A397A 0.446794 0.4839 0.4972 Uncertain 10_47000079_T->C 10 47000079 47000079 T C snp 3146.77 0/1 99 250 121 129 0.52 exonic GPRIN2 AU nonsynonymous SNV NM_014696 exon3 c.T1199C p.L400P 0.5017 0.5001 1 T 0.992 D -0.855 T 0.0 T 0.0 T Pathogenic 10_47000146_C->T 10 47000146 47000146 C T snp 2884.77 0/1 99 239 125 114 0.48 exonic GPRIN2 AU synonymous SNV NM_014696 exon3 c.C1266T p.P422P 0.503395 0.505 0.5016 0.5 Uncertain 10_47000188_A->G 10 47000188 47000188 A G snp 5429.77 1/1 99 186 1 185 0.99 exonic GPRIN2 AU synonymous SNV NM_014696 exon3 c.A1308G p.P436P 0.951278 1 0.959315 0.9877 1 Uncertain 10_47000239_C->T 10 47000239 47000239 C T snp 942.77 0/1 99 78 42 36 0.46 exonic GPRIN2 AU synonymous SNV NM_014696 exon3 c.C1359T p.S453S 0.516374 0.5099 0.5033 0.5032 Uncertain 10_47000321_G->A 10 47000321 47000321 G A snp 278.77 0/1 99 15 4 11 0.73 UTR3 GPRIN2 AU Uncertain 10_47086915_C->T 10 47086915 47086915 C T snp 1436.77 0/1 99 250 191 59 0.24 exonic rs59974223 LOC100996758 AU synonymous SNV NM_001278795 exon1 c.C132T p.I44I 0.116177 0.1719 0.3411 Uncertain 10_47086978_G->A 10 47086978 47086978 G A snp 1840.77 0/1 99 250 179 71 0.28 exonic rs3740294 LOC100996758 AU synonymous SNV NM_001278795 exon1 c.G195A p.V65V 0.173922 0.3264 0.098109 0.1651 0.3390 Uncertain 10_47087078_G->T 10 47087078 47087078 G T snp 1008.77 0/1 99 250 197 53 0.21 exonic rs2229967 LOC100996758 AU nonsynonymous SNV NM_001278795 exon1 c.G295T p.A99S 0.274027 0.2985 0.2337 0.02 T 1.000 N -1.150 T 0.687 T 0.624 P Pathogenic 10_47087474_C->T 10 47087474 47087474 C T snp 7960.77 1/1 99 250 0 250 1.0 exonic rs1129838 LOC100996758 AU synonymous SNV NM_001278795 exon1 c.C691T p.L231L 0.729663 0.7542 0.9878 Uncertain 10_47087501_C->T 10 47087501 47087501 C T snp 3475.77 0/1 99 250 132 118 0.47 exonic rs3824733 LOC100996758 AU nonsynonymous SNV NM_001278795 exon1 c.C718T p.R240C 0.229048 0.3072 0.4733 0.19 T 1 D -0.834 T 0.068 T 0.089 T Pathogenic 10_47087608_T->C 10 47087608 47087608 T C snp 8321.77 1/1 99 250 0 250 1.0 exonic rs1936339 LOC100996758 AU synonymous SNV NM_001278795 exon1 c.T825C p.A275A 0.964657 0.997 0.961402 0.9890 0.9983 Uncertain 10_47087680_C->T 10 47087680 47087680 C T snp 8518.77 1/1 99 250 0 250 1.0 exonic rs1048157 LOC100996758 AU synonymous SNV NM_001278795 exon1 c.C897T p.H299H 0.7542 0.9878 Uncertain 10_47087731_C->T 10 47087731 47087731 C T snp 8561.77 1/1 99 250 0 250 1.0 exonic rs1048158 LOC100996758 AU synonymous SNV NM_001278795 exon1 c.C948T p.C316C 0.826677 0.9901 0.730663 0.7542 0.9878 Uncertain 10_47087830_G->A 10 47087830 47087830 G A snp 7337.77 1/1 99 247 0 247 1.0 exonic rs1129839 LOC100996758 AU synonymous SNV NM_001278795 exon1 c.G1047A p.S349S 0.826478 0.9891 0.7540 0.9878 Uncertain 10_47405767_T->A 10 47405767 47405767 T A snp 171.77 0/1 99 32 22 10 0.31 ncRNA_intronic FAM35DP AU Uncertain 10_47416908_A->G 10 47416908 47416908 A G snp 3400.77 0/1 99 248 125 123 0.5 ncRNA_exonic FAM35DP AU 0.2655 0.5245 Uncertain 10_47667138_G->C 10 47667138 47667138 G C snp 125.8 0/1 21 5 1 4 0.8 intronic ANTXRL AU NM_001278688 exon4 c.8756-116G>C 0.654752 0.503 Uncertain 10_47667164_C->T 10 47667164 47667164 C T snp 227.77 0/1 60 10 3 7 0.7 intronic ANTXRL AU NM_001278688 exon4 c.8756-90C>T 0.340655 0.1597 Uncertain 10_47667380_C->T 10 47667380 47667380 C T snp 2855.77 0/1 99 199 74 125 0.63 intronic ANTXRL AU NM_001278688 exon4 c.8838+44C>T 0.340655 0.1597 0.4158 0.1566 Uncertain 10_47668370_G->C 10 47668370 47668370 G C snp 176.77 0/1 99 13 7 6 0.46 intronic ANTXRL AU NM_001278688 exon6 c.9989-117G>C 0.34345 0.1597 Uncertain 10_47668707_T->C 10 47668707 47668707 T C snp 700.77 0/1 99 45 20 25 0.56 exonic rs4409768 ANTXRL AU synonymous SNV NM_001278688 exon7 c.T651C p.D217D 0.343051 0.1597 0.4177 0.1566 Uncertain 10_47668721_G->A 10 47668721 47668721 G A snp 510.77 0/1 99 28 11 17 0.61 intronic rs4570521 ANTXRL AU NM_001278688 exon7 c.10212+11G>A 0.34365 0.1597 0.4177 0.1566 Uncertain 10_47668744_A->G 10 47668744 47668744 A G snp 338.77 0/1 99 16 6 10 0.63 intronic rs4615963 ANTXRL AU NM_001278688 exon7 c.10212+34A>G 0.343051 0.1597 0.4160 0.1566 Uncertain 10_47668747_C->G 10 47668747 47668747 C G snp 267.77 0/1 99 13 5 8 0.62 intronic ANTXRL AU NM_001278688 exon7 c.10212+37C>G 0.343251 0.1597 0.4157 0.1566 Uncertain 10_47668782_A->G 10 47668782 47668782 A G snp 56.74 1/1 6 2 0 2 1.0 intronic rs4542339 ANTXRL AU NM_001278688 exon7 c.10212+72A>G 0.34365 0.1597 Uncertain 10_47668787_A->G 10 47668787 47668787 A G snp 48.74 1/1 6 2 0 2 1.0 intronic ANTXRL AU NM_001278688 exon7 c.10212+77A>G 0.710463 0.5129 Uncertain 10_47669277_C->G 10 47669277 47669277 C G snp 788.77 0/1 99 54 28 26 0.48 exonic ANTXRL AU nonsynonymous SNV NM_001278688 exon9 c.C775G p.P259A 0.342851 0.1597 0.3996 0.1602 Pathogenic 10_47669320_G->A 10 47669320 47669320 G A snp 283.77 0/1 99 23 14 9 0.39 intronic ANTXRL AU NM_001278688 exon9 c.10800+22G>A 0.342252 0.1597 0.3230 0.1634 Uncertain 10_47669324_A->T 10 47669324 47669324 A T snp 193.77 0/1 99 21 14 7 0.33 intronic ANTXRL AU NM_001278688 exon9 c.10800+26A>T 0.373203 0.1815 0.4260 0.19 Uncertain 10_47669343_T->C 10 47669343 47669343 T C snp 61.77 0/1 90 13 10 3 0.23 intronic rs546994472 ANTXRL AU NM_001278688 exon9 c.10800+45T>C 0.30631 0.1558 0.2250 0.1061 Uncertain 10_47669344_G->T 10 47669344 47669344 G T snp 64.77 0/1 93 12 9 3 0.25 intronic rs571894784 ANTXRL AU NM_001278688 exon9 c.10800+46G>T 0.30631 0.1558 0.2219 0.1061 Uncertain 10_47673858_T->C 10 47673858 47673858 T C snp 1262.77 0/1 99 110 54 56 0.51 intronic ANTXRL AU NM_001278688 exon10 c.15459-99T>C 0.408546 0.4325 Uncertain 10_47677948_C->G 10 47677948 47677948 C G snp 1312.77 0/1 99 93 42 51 0.55 intronic ANTXRL AU NM_001278688 exon11 c.19540-90C>G 0.0303514 0.1429 Uncertain 10_47678244_T->G 10 47678244 47678244 T G snp 80.77 0/1 99 7 4 3 0.43 intronic ANTXRL AU NM_001278688 exon11 c.19610+136T>G 0.0850639 0.1429 Uncertain 10_47701275_G->A 10 47701275 47701275 G A snp 1978.77 0/1 99 158 80 78 0.49 exonic rs10906952 ANTXRL AU synonymous SNV NM_001278688 exon17 c.G1851A p.T617T 0.275958 0.2262 0.3607 0.25 Uncertain 10_47701302_G->C 10 47701302 47701302 G C snp 3432.77 1/1 99 113 0 113 1.0 exonic rs7091749 ANTXRL AU synonymous SNV NM_001278688 exon17 c.G1878C p.P626P 0.808506 0.8929 0.8191 0.9148 Uncertain 10_47755864_A->G 10 47755864 47755864 A G snp 207.84 1/1 18 8 0 8 1.0 intronic rs3870778 ANXA8L1 AU NM_001278923 exon5 c.8921-168A>G Uncertain 10_47756004_T->C 10 47756004 47756004 T C snp 2715.77 1/1 99 107 1 106 0.99 intronic rs3013885 ANXA8L1 AU NM_001278923 exon5 c.8921-28T>C 0.993411 1 0.991763 0.9980 1 Uncertain 10_47756145_T->C 10 47756145 47756145 T C snp 1127.77 1/1 87 40 0 40 1.0 intronic rs2942950 ANXA8L1 AU NM_001278923 exon5 c.8981+53T>C 0.821885 0.8919 Uncertain 10_47915891_C->A 10 47915891 47915891 C A snp 618.77 1/1 51 25 0 25 1.0 intergenic rs192916706 ANXA8L1 AU 0.4741 0.6805 0.82 T 0.009 P -0.913 T 0.017 T 0.033 T Uncertain 10_47915977_A->T 10 47915977 47915977 A T snp 61.28 1/1 9 4 0 4 1.0 intergenic rs201484861 ANXA8L1 AU 0.573083 0.8849 0.0389 0.1349 Uncertain 10_47942094_T->C 10 47942094 47942094 T C snp 67.28 1/1 9 13 0 13 1.0 intergenic rs2813291 ANXA8L1 AU 0.757788 0.9702 0.0130 0.56 Uncertain 10_48029324_A->C 10 48029324 48029324 A C snp 165.84 1/1 18 23 0 23 1.0 intergenic rs993869 ANXA8L1 AU 0.0003 0 1 T 0.000 P -0.986 T Uncertain 10_48370595_G->A 10 48370595 48370595 G A snp 2923.77 1/1 99 114 1 113 0.99 exonic ZNF488 AU synonymous SNV NM_153034 exon2 c.G63A p.G21G 0.366813 0.4812 0.337538 0.3496 0.4993 Uncertain 10_48384075_T->C 10 48384075 48384075 T C snp 43.77 0/1 66 4 2 2 0.5 intronic RBP3 AR NM_002900 exon2 c.2082+89T>C 0.122604 0.2163 Uncertain 10_48386110_T->C 10 48386110 48386110 T C snp 790.77 0/1 99 44 17 27 0.61 intronic RBP3 AR NM_002900 exon3 c.4133+73T>C 0.597244 0.6171 Uncertain 10_48388228_C->T 10 48388228 48388228 C T snp 1806.77 0/1 99 148 73 75 0.51 exonic RBP3 AR nonsynonymous SNV NM_002900 exon1 c.G2650A p.V884M 0.00938498 0.0417 0.000385 0.0059 0.0422 0 D 0.991 D -0.476 T 0.998 D 0.983 D ID=CM1413259;DIS=Corneal curvature, association with;TAG=DP;PUB=24963161 DP Pathogenic 10_48390890_G->A 10 48390890 48390890 G A snp 1512.77 0/1 99 128 63 65 0.51 UTR5 RBP3 AR 0.101238 0.2123 0.063096 0.0985 0.2003 Uncertain 10_48414570_A->G 10 48414570 48414570 A G snp 175.77 0/1 99 27 18 9 0.33 intronic GDF2 AD NM_016204 exon1 c.944+49A>G 0.811302 0.8185 0.848943 0.8946 0.8253 Uncertain 10_48426628_C->T 10 48426628 48426628 C T snp 2941.77 0/1 99 246 127 119 0.48 exonic GDF10 AU nonsynonymous SNV NM_004962 exon3 c.G1379A p.R460Q 0.0001 0.0012 0.26 T 0.992 D -0.981 T 0.702 T 0.168 P Pathogenic 10_48429650_G->A 10 48429650 48429650 G A snp 1098.77 1/1 84 32 0 32 1.0 intronic GDF10 AU NM_004962 exon2 c.2997+84G>A 0.727236 0.744 Uncertain 10_48438734_C->T 10 48438734 48438734 C T snp 616.77 0/1 99 44 17 27 0.61 UTR5 GDF10 AU 0.684904 0.6915 0.750000 0.7690 0.6944 Uncertain 10_49392575_C->G 10 49392575 49392575 C G snp 818.77 0/1 99 99 65 34 0.34 intronic rs931743 FRMPD2 AU NM_001018071 exon10 c.27244-33C>G 0.533746 0.4623 0.615639 0.5694 0.5109 Uncertain 10_49393002_C->G 10 49393002 49393002 C G snp 411.77 0/1 99 30 13 17 0.57 intronic rs2062704 FRMPD2 AU NM_001018071 exon11 c.27560+78C>G 0.313898 0.4206 Uncertain 10_49409542_G->A 10 49409542 49409542 G A snp 315.77 0/1 99 30 19 11 0.37 intronic rs75408612 FRMPD2 AU NM_001018071 exon15 c.44063+115G>A 0.00179712 0.0079 Uncertain 10_49450443_A->G 10 49450443 49450443 A G snp 850.78 1/1 27 24 1 23 0.96 intronic rs280612 FRMPD2 AU NM_001018071 exon25 c.85031+48A>G 0.882388 0.999 0.875699 0.9331 0.9999 Uncertain 10_49609578_C->A 10 49609578 49609578 C A snp 607.77 1/1 45 22 0 22 1.0 upstream rs3730154 MAPK8 AU 0.960863 0.998 Uncertain 10_49654342_C->T 10 49654342 49654342 C T snp 543.77 1/1 42 18 0 18 1.0 UTR3 rs1051508 ARHGAP22 AU 0.478435 0.628 Uncertain 10_49654403_C->T 10 49654403 49654403 C T snp 1919.77 1/1 99 65 0 65 1.0 UTR3 rs1051507 ARHGAP22 AU 0.474641 0.625 0.501307 0.5303 0.6437 Uncertain 10_49658248_G->A 10 49658248 49658248 G A snp 1946.77 1/1 99 75 0 75 1.0 intronic rs1867585 ARHGAP22 AU NM_001256025 exon2 c.3870-55G>A 0.798323 0.9673 Uncertain 10_49659559_C->T 10 49659559 49659559 C T snp 6813.77 1/1 99 249 0 249 1.0 intronic rs10776601 ARHGAP22 AU NM_001256025 exon2 c.4750+376C>T 0.791933 0.9683 0.7973 0.9701 0.0 P -1.026 T Uncertain 10_49659637_T->C 10 49659637 49659637 T C snp 1353.77 0/1 99 170 116 54 0.32 intronic rs3827681 ARHGAP22 AU NM_001256025 exon2 c.4750+454T>C 0.502796 0.621 0.4659 0.6397 0.0 P -0.972 T Uncertain 10_49661341_A->G 10 49661341 49661341 A G snp 3363.77 1/1 99 119 0 119 1.0 splicing rs554073955 ARHGAP22 AU NM_001256025 exon3 c.6913-5A>G 0.82488 0.9891 0.835537 0.9034 0.9925 Pathogenic 10_49662854_G->A 10 49662854 49662854 G A snp 104.28 1/1 9 5 0 5 1.0 intronic rs12355719 ARHGAP22 AU NM_001256025 exon5 c.8611-190G>A 0.17512 0.3006 Uncertain 10_49662879_C->G 10 49662879 49662879 C G snp 316.77 0/1 99 20 7 13 0.65 intronic rs12356940 ARHGAP22 AU NM_001256025 exon5 c.8611-165C>G 0.176118 0.3016 Uncertain 10_49662884_A->G 10 49662884 49662884 A G snp 596.77 1/1 45 21 0 21 1.0 intronic rs11101327 ARHGAP22 AU NM_001256025 exon5 c.8611-160A>G 0.819888 0.9663 Uncertain 10_49667713_G->A 10 49667713 49667713 G A snp 5796.77 1/1 99 208 0 208 1.0 intronic rs1867575 ARHGAP22 AU NM_001256025 exon6 c.13293-13G>A 0.894968 0.999 0.891050 0.9633 0.9999 Uncertain 10_49667795_T->C 10 49667795 49667795 T C snp 5944.77 1/1 99 226 0 226 1.0 exonic rs3853761 ARHGAP22 AU synonymous SNV NM_001256026 exon3 c.A321G p.P107P 0.901957 1 0.895510 0.9714 0.9999 Uncertain 10_49687556_A->C 10 49687556 49687556 A C snp 1238.77 1/1 90 36 0 36 1.0 intronic rs4240511 ARHGAP22 AU NM_001256024 exon7 c.33197-74A>C 0.90615 1 Uncertain 10_49687594_G->A 10 49687594 49687594 G A snp 1791.77 1/1 99 61 0 61 1.0 intronic rs4838601 ARHGAP22 AU NM_001256024 exon7 c.33197-36G>A 0.90615 1 0.9735 1 Uncertain 10_49687800_G->A 10 49687800 49687800 G A snp 1815.77 1/1 99 52 0 52 1.0 exonic rs4080665 ARHGAP22 AU synonymous SNV NM_001256026 exon2 c.C60T p.A20A 0.789337 0.9425 0.749654 0.8574 0.9205 Uncertain 10_49687850_G->A 10 49687850 49687850 G A snp 1008.77 0/1 99 66 28 38 0.58 intronic rs3888298 ARHGAP22 AU NM_001256025 exon7 c.33374+43G>A 0.328275 0.6151 0.164686 0.2258 0.6323 Uncertain 10_49687925_C->G 10 49687925 49687925 C G snp 1167.77 0/1 99 137 84 53 0.39 intronic rs4575219 ARHGAP22 AU NM_001256025 exon7 c.33374+118C>G 0.173123 0.3006 Uncertain 10_49687964_A->C 10 49687964 49687964 A C snp 4489.77 1/1 99 161 0 161 1.0 intronic rs4240513 ARHGAP22 AU NM_001256025 exon7 c.33374+157A>C 0.926717 1 Uncertain 10_49687971_T->C 10 49687971 49687971 T C snp 4610.77 1/1 99 159 0 159 1.0 intronic rs4240514 ARHGAP22 AU NM_001256025 exon7 c.33374+164T>C 0.926518 1 Uncertain 10_49688014_C->A 10 49688014 49688014 C A snp 4354.77 1/1 99 165 0 165 1.0 intronic rs4838602 ARHGAP22 AU NM_001256025 exon7 c.33374+207C>A 0.926518 1 Uncertain 10_49690351_T->C 10 49690351 49690351 T C snp 5035.77 1/1 99 181 1 180 0.99 intronic rs1445157 ARHGAP22 AU NM_001256025 exon7 c.33374+2544T>C 0.947484 1 Uncertain 10_49701652_G->T 10 49701652 49701652 G T snp 679.77 1/1 51 19 0 19 1.0 UTR5 rs10735226 ARHGAP22 AU 0.461861 0.8998 Uncertain 10_49732268_A->G 10 49732268 49732268 A G snp 141.03 1/1 12 5 0 5 1.0 intronic rs4575220 ARHGAP22 AU NM_001256026 exon8 c.47259+30576A>G 1 1 Uncertain 10_49790972_C->T 10 49790972 49790972 C T snp 2631.77 1/1 99 89 0 89 1.0 intronic rs2289808 ARHGAP22 AU NM_001256025 exon9 c.136564-25C>T 0.421526 0.7272 0.260649 0.3661 0.7823 Uncertain 10_49804554_A->G 10 49804554 49804554 A G snp 1173.77 1/1 87 30 0 30 1.0 intronic rs10776627 ARHGAP22 AU NM_021226 exon10 c.158374-8253A>G 0.785144 0.8601 Uncertain 10_49804785_T->G 10 49804785 49804785 T G snp 4395.77 1/1 99 146 0 146 1.0 intronic rs10745280 ARHGAP22 AU NM_021226 exon10 c.158374-8022T>G 0.892772 0.8611 Uncertain 10_49860130_G->C 10 49860130 49860130 G C snp 259.77 0/1 99 28 17 11 0.39 intronic rs2377612 ARHGAP22 AU NM_001256025 exon10 c.205845-148G>C 0.503794 0.6359 Uncertain 10_49860153_G->A 10 49860153 49860153 G A snp 389.77 0/1 99 42 26 16 0.38 intronic rs2377613 ARHGAP22 AU NM_001256025 exon10 c.205845-125G>A 0.503794 0.6359 Uncertain 10_49860258_A->G 10 49860258 49860258 A G snp 803.77 0/1 99 97 62 35 0.36 intronic rs2377614 ARHGAP22 AU NM_001256025 exon10 c.205845-20A>G 0.503994 0.6359 0.5287 0.6418 Uncertain 10_49928250_C->A 10 49928250 49928250 C A snp 258.77 0/1 99 29 19 10 0.34 intronic rs74130612 WDFY4 AU NM_020945 exon3 c.10393+80C>A 0.000199681 Uncertain 10_49929491_A->C 10 49929491 49929491 A C snp 3980.77 1/1 99 141 0 141 1.0 intronic rs10857625 WDFY4 AU NM_020945 exon4 c.11635+79A>C 0.48103 0.7361 Uncertain 10_49933974_T->C 10 49933974 49933974 T C snp 821.77 0/1 99 75 39 36 0.48 exonic rs7072606 WDFY4 AU nonsynonymous SNV NM_020945 exon6 c.T640C p.S214P 0.140176 0.1835 0.088699 0.1241 0.2120 0.13 T 0.0 P -1.093 T 0.826 T 0.201 P Pathogenic 10_49983890_G->T 10 49983890 49983890 G T snp 3477.77 1/1 99 117 0 117 1.0 intronic rs1871604 WDFY4 AU NM_020945 exon15 c.66074+39G>T 0.901358 0.998 0.886553 0.9270 0.9952 Uncertain 10_49987020_T->C 10 49987020 49987020 T C snp 99.28 1/1 9 4 0 4 1.0 intronic rs2683612 WDFY4 AU NM_020945 exon18 c.69100+143T>C 0.954073 1 Uncertain 10_49998780_G->A 10 49998780 49998780 G A snp 2762.77 0/1 99 182 78 104 0.57 exonic rs41282009 WDFY4 AU nonsynonymous SNV NM_020945 exon23 c.G4075A p.V1359I 0.116813 0.3075 0.032852 0.0904 0.2799 1.000 P -0.986 T 0.473 P 0.091 P Pathogenic 10_50004372_C->T 10 50004372 50004372 C T snp 1373.77 0/1 99 147 85 62 0.42 exonic rs41282011 WDFY4 AU synonymous SNV NM_020945 exon24 c.C4287T p.A1429A 0.117412 0.3075 0.032633 0.0891 0.2778 0.0 P -0.950 T Likely benign 10_50011053_C->A 10 50011053 50011053 C A snp 221.84 1/1 18 7 0 7 1.0 intronic rs2928392 WDFY4 AU NM_020945 exon25 c.93553-277C>A 0.384585 0.6726 Uncertain 10_50013402_T->C 10 50013402 50013402 T C snp 4814.77 1/1 99 171 0 171 1.0 exonic rs2170132 WDFY4 AU nonsynonymous SNV NM_020945 exon26 c.T4582C p.S1528P 0.576877 0.8304 0.439553 0.4306 0.8350 1.000 P -1.006 T 0.0 T 0.001 T Pathogenic 10_50014273_C->A 10 50014273 50014273 C A snp 663.77 1/1 51 17 0 17 1.0 intronic rs1871611 WDFY4 AU NM_020945 exon27 c.96363+133C>A 0.394968 0.6468 Uncertain 10_50019435_T->C 10 50019435 50019435 T C snp 307.78 1/1 24 9 0 9 1.0 intronic rs10745283 WDFY4 AU NM_020945 exon30 c.101806-148T>C 0.991414 1 Uncertain 10_50025396_G->A 10 50025396 50025396 G A snp 4582.77 1/1 99 170 0 170 1.0 exonic rs7097397 WDFY4 AU nonsynonymous SNV NM_020945 exon32 c.G5447A p.R1816Q 0.358626 0.6935 0.310337 0.3754 0.7078 0.0 P -0.923 T 0.958 D 0.338 D ID=CM101262;DIS=Systemic lupus erythematosus, association with;TAG=DP;PUB=20169177 DP Pathogenic 10_50030730_G->A 10 50030730 50030730 G A snp 647.77 1/1 48 21 0 21 1.0 intronic rs10857651 WDFY4 AU NM_020945 exon35 c.112805+148G>A 0.315096 0.7113 Uncertain 10_50038720_G->T 10 50038720 50038720 G T snp 747.77 1/1 57 24 0 24 1.0 intronic rs3747875 WDFY4 AU NM_020945 exon38 c.120967-24G>T 0.48762 0.8095 0.378011 0.4338 0.8058 Uncertain 10_50038800_A->G 10 50038800 50038800 A G snp 1784.77 1/1 99 67 0 67 1.0 exonic rs3747874 WDFY4 AU synonymous SNV NM_020945 exon38 c.A6396G p.Q2132Q 0.65016 0.8115 0.569426 0.5847 0.8055 1.0 P -1.007 T Likely benign 10_50040562_A->G 10 50040562 50040562 A G snp 6192.77 1/1 99 217 0 217 1.0 intronic rs3747873 WDFY4 AU NM_020945 exon39 c.122840-55A>G 0.523163 0.8095 Uncertain 10_50040610_T->G 10 50040610 50040610 T G snp 7705.77 1/1 99 250 0 250 1.0 intronic rs3747872 WDFY4 AU NM_020945 exon39 c.122840-7T>G 0.523163 0.8095 0.415900 0.4512 0.8087 Uncertain 10_50075461_G->A 10 50075461 50075461 G A snp 639.77 1/1 48 19 0 19 1.0 intronic rs2663019 WDFY4 AU NM_020945 exon40 c.157610+74G>A 0.517173 0.7123 Uncertain 10_50083111_T->C 10 50083111 50083111 T C snp 5294.77 1/1 99 205 0 205 1.0 intronic rs2620881 WDFY4 AU NM_020945 exon42 c.165356-22T>C 0.464257 0.7173 0.360710 0.3702 0.7444 Uncertain 10_50085267_C->G 10 50085267 50085267 C G snp 1335.77 1/1 96 50 0 50 1.0 intronic rs1904595 WDFY4 AU NM_020945 exon43 c.167467+23C>G 0.45028 0.7163 0.349540 0.3748 0.7481 Uncertain 10_50108145_G->C 10 50108145 50108145 G C snp 422.77 1/1 33 13 0 13 1.0 intronic rs2671693 WDFY4 AU NM_020945 exon46 c.190488-120G>C 0.985623 1 Uncertain 10_50109902_G->A 10 50109902 50109902 G A snp 3026.77 1/1 99 111 0 111 1.0 exonic rs2663046 WDFY4 AU nonsynonymous SNV NM_020945 exon47 c.G7580A p.S2527N 0.969649 1 0.974595 0.9899 1 1.000 P -1.005 T 0.0 T 0.0 T Pathogenic 10_50110015_A->T 10 50110015 50110015 A T snp 548.77 1/1 42 15 0 15 1.0 intronic rs7068839 WDFY4 AU NM_020945 exon47 c.192131+107A>T 0.589058 0.7143 Uncertain 10_50121784_T->C 10 50121784 50121784 T C snp 4896.77 1/1 99 165 0 165 1.0 exonic rs10776653 LRRC18 AU synonymous SNV NM_001006939 exon1 c.A417G p.T139T 0.6252 0.7292 0.540212 0.5310 0.7274 Uncertain 10_50122181_C->A 10 50122181 50122181 C A snp 2861.77 1/1 99 101 0 101 1.0 exonic rs7094610 LRRC18 AU nonsynonymous SNV NM_001006939 exon1 c.G20T p.G7V 0.363019 0.7202 0.266954 0.3558 0.7209 1.000 P -0.959 T 0.034 T 0.019 T Pathogenic 10_50149674_A->G 10 50149674 50149674 A G snp 1156.77 1/1 84 34 0 34 1.0 intronic rs2671717 WDFY4 AU NM_020945 exon48 c.232073-176A>G 0.961462 1 Uncertain 10_50151616_G->A 10 50151616 50151616 G A snp 90.28 1/1 9 3 0 3 1.0 intronic rs2943250 WDFY4 AU NM_020945 exon49 c.233717+122G>A 0.9373 1 Uncertain 10_50154768_A->T 10 50154768 50154768 A T snp 1304.77 1/1 96 35 0 35 1.0 intronic rs2663066 WDFY4 AU NM_020945 exon51 c.237127-136A>T 0.944089 1 Uncertain 10_50165128_G->A 10 50165128 50165128 G A snp 932.77 0/1 99 58 26 32 0.55 intronic rs3829206 WDFY4 AU NM_020945 exon52 c.247396-45G>A 0.408946 0.3482 0.443057 0.4626 0.3681 Uncertain 10_50165411_T->C 10 50165411 50165411 T C snp 907.77 0/1 99 62 31 31 0.5 intronic rs3750867 WDFY4 AU NM_020945 exon52 c.247550+84T>C 0.476038 0.621 Uncertain 10_50167621_A->G 10 50167621 50167621 A G snp 803.77 0/1 99 68 32 36 0.53 intronic rs10776660 WDFY4 AU NM_020945 exon53 c.249989-145A>G 0.484824 0.38 Uncertain 10_50184949_C->T 10 50184949 50184949 C T snp 1915.77 0/1 99 143 55 88 0.62 exonic rs2271565 WDFY4 AU synonymous SNV NM_020945 exon59 c.C9216T p.C3072C 0.334265 0.3502 0.383706 0.4451 0.3651 1.0 P -0.888 T Likely benign 10_50186317_G->A 10 50186317 50186317 G A snp 2319.77 0/1 99 189 89 100 0.53 intronic rs2292585 WDFY4 AU NM_020945 exon60 c.268576-36G>A 0.506789 0.6181 0.483793 0.5393 0.6221 Uncertain 10_50186415_C->T 10 50186415 50186415 C T snp 2120.77 0/1 99 160 69 91 0.57 exonic rs2292584 WDFY4 AU nonsynonymous SNV NM_020945 exon60 c.C9353T p.P3118L 0.419129 0.3512 0.458388 0.4627 0.3608 0.0 P -0.911 T 0.0 T 0.0 T Pathogenic 10_50190923_-->A 10 50190923 50190923 - A indel 303.73 1/1 39 25 0 25 1.0 UTR3 rs397723327 WDFY4 AU 0.870208 0.9167 0.6215 0.6395 Uncertain 10_50227785_T->C 10 50227785 50227785 T C snp 1460.77 1/1 99 57 0 57 1.0 exonic rs1913525 VSTM4 AU synonymous SNV NM_001031746 exon8 c.A873G p.E291E 0.935304 1 0.940489 0.9831 1 Uncertain 10_50227870_C->T 10 50227870 50227870 C T snp 910.77 1/1 66 36 0 36 1.0 intronic rs1913524 VSTM4 AU NM_001031746 exon1 c.126+50C>T 0.873403 0.9702 0.871367 0.9210 0.9857 Uncertain 10_50227927_C->A 10 50227927 50227927 C A snp 480.77 1/1 36 16 0 16 1.0 intronic rs1913523 VSTM4 AU NM_001031746 exon1 c.126+107C>A 0.935903 1 Uncertain 10_50531214_C->G 10 50531214 50531214 C G snp 2057.77 0/1 99 144 65 79 0.55 exonic rs4838383 C10orf71 AU nonsynonymous SNV NM_001135196 exon3 c.C624G p.N208K 0.0854633 0.2163 0.045034 0.0608 0.2118 0.56 T 0.0 P -0.975 T 0.589 P 0.083 P Pathogenic 10_50531549_G->T 10 50531549 50531549 G T snp 2978.77 0/1 99 227 110 117 0.52 exonic rs56206226 C10orf71 AU nonsynonymous SNV NM_001135196 exon3 c.G959T p.R320L 0.175919 0.3085 0.149976 0.1796 0.3109 0.73 T 0.0 P -0.935 T 0.001 T 0.004 T Pathogenic 10_50531604_T->C 10 50531604 50531604 T C snp 4929.77 1/1 99 171 0 171 1.0 exonic rs7093235 C10orf71 AU synonymous SNV NM_001135196 exon3 c.T1014C p.L338L 0.957069 1 0.960464 0.9885 1 Uncertain 10_50531606_C->A 10 50531606 50531606 C A snp 2270.77 0/1 99 167 72 95 0.57 exonic rs55780106 C10orf71 AU nonsynonymous SNV NM_001135196 exon3 c.C1016A p.A339E 0.175919 0.3085 0.150204 0.1814 0.3120 0.75 T 0.0 P -0.922 T 0.096 T 0.092 T Pathogenic 10_50531972_A->C 10 50531972 50531972 A C snp 1891.77 0/1 99 181 101 80 0.44 exonic rs45554335 C10orf71 AU nonsynonymous SNV NM_001135196 exon3 c.A1382C p.D461A 0.176518 0.3095 0.148298 0.1790 0.3114 0.08 T 0.0 P -0.945 T 0.001 T 0.002 T Pathogenic 10_50532683_T->C 10 50532683 50532683 T C snp 3145.77 1/1 99 104 0 104 1.0 exonic rs7921186 C10orf71 AU nonsynonymous SNV NM_001135196 exon3 c.T2093C p.F698S 0.962859 1 0.966381 0.9905 1 0.13 T 1.000 P -0.906 T Pathogenic 10_50533237_G->A 10 50533237 50533237 G A snp 2653.77 0/1 99 223 106 117 0.52 exonic rs12217617 C10orf71 AU nonsynonymous SNV NM_001135196 exon3 c.G2647A p.D883N 0.172524 0.3085 0.141261 0.1349 0.2668 0.21 T 0.000 P -0.863 T Pathogenic 10_50533617_T->C 10 50533617 50533617 T C snp 2909.77 0/1 99 240 119 121 0.5 exonic rs2377940 C10orf71 AU synonymous SNV NM_001135196 exon3 c.T3027C p.G1009G 0.872005 0.7837 0.912177 0.9467 0.8087 Uncertain 10_50533776_C->G 10 50533776 50533776 C G snp 1733.77 0/1 99 141 69 72 0.51 exonic rs10857471 C10orf71 AU synonymous SNV NM_001135196 exon3 c.C3186G p.P1062P 0.346845 0.1954 0.4345 0.2491 Uncertain 10_50534395_G->A 10 50534395 50534395 G A snp 946.77 0/1 99 119 81 38 0.32 exonic rs41301109 C10orf71 AU nonsynonymous SNV NM_001135196 exon3 c.G3805A p.A1269T 0.0395367 0.126 0.025250 0.0236 0.1108 0.94 T 0.339 P -1.042 T Pathogenic 10_50534599_G->A 10 50534599 50534599 G A snp 1760.77 0/1 99 115 49 66 0.57 exonic rs10857472 C10orf71 AU nonsynonymous SNV NM_001135196 exon3 c.G4009A p.G1337S 0.329673 0.1925 0.379418 0.4473 0.2432 0.27 T 0.000 P -0.911 T Pathogenic 10_50534646_C->T 10 50534646 50534646 C T snp 1690.77 0/1 99 132 67 65 0.49 exonic rs12415544 C10orf71 AU synonymous SNV NM_001135196 exon3 c.C4056T p.S1352S 0.0842652 0.2123 0.0383 0.2048 Uncertain 10_50534862_T->C 10 50534862 50534862 T C snp 1364.77 0/1 99 102 48 54 0.53 exonic rs12411843 C10orf71 AU synonymous SNV NM_001135196 exon3 c.T4272C p.D1424D 0.303714 0.4127 0.275296 0.3298 0.3818 Uncertain 10_50534969_-->ACACACACAC 10 50534969 50534969 - ACACACACAC indel 1651.77 1/1 20 37 1 36 0.97 UTR3 rs373439915 C10orf71 AU Uncertain 10_50594509_C->A 10 50594509 50594509 C A snp 564.77 1/1 42 17 0 17 1.0 intronic rs12261515 DRGX AU NM_001276451 exon2 c.20363-14C>A 0.286542 0.5308 0.225315 0.3695 0.6187 Uncertain 10_50666808_A->G 10 50666808 50666808 A G snp 968.77 0/1 99 63 31 32 0.51 UTR3 rs4253231 ERCC6 AR,AD,AU 0.140775 0.1478 Uncertain 10_50678066_G->A 10 50678066 50678066 G A snp 46.77 0/1 75 15 12 3 0.2 intronic rs4240505 ERCC6 AR,AD,AU NM_000124 exon4 c.11367-161G>A 0.401358 0.4643 Uncertain 10_50680685_A->C 10 50680685 50680685 A C snp 48.74 1/1 6 2 0 2 1.0 intronic rs10437449 ERCC6 AR,AD,AU NM_000124 exon6 c.13656+169A>C 0.978834 1 Uncertain 10_50683438_T->C 10 50683438 50683438 T C snp 727.77 0/1 99 68 37 31 0.46 intronic rs4838522 ERCC6 AR,AD,AU NM_000124 exon10 c.17400-822T>C 0.14377 0.1488 0.1722 0.1742 Uncertain 10_50684165_G->A 10 50684165 50684165 G A snp 1412.77 0/1 99 137 75 62 0.45 intronic ERCC6 AR,AD,AU NM_000124 exon10 c.17400-95G>A Uncertain 10_50684228_A->G 10 50684228 50684228 A G snp 1861.77 0/1 99 181 93 88 0.49 intronic rs3750749 ERCC6 AR,AD,AU NM_000124 exon10 c.17400-32A>G 0.179912 0.4107 0.081193 0.1217 0.3965 Uncertain 10_50691009_C->T 10 50691009 50691009 C T snp 177.77 0/1 99 19 11 8 0.42 intronic rs4240506 ERCC6 AR,AD,AU NM_000124 exon12 c.24049+100C>T 0.398962 0.4643 Uncertain 10_50691360_T->C 10 50691360 50691360 T C snp 4058.77 1/1 99 145 0 145 1.0 intronic rs4253162 ERCC6 AR,AD,AU NM_000124 exon13 c.24531-31T>C 0.88758 0.999 0.849300 0.9071 0.9992 Uncertain 10_50701156_G->A 10 50701156 50701156 G A snp 2400.77 1/1 99 88 0 88 1.0 intronic rs4253132 ERCC6 AR,AD,AU NM_000124 exon14 c.34302-6G>A 0.876997 0.999 0.832231 0.8887 0.9992 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000170371.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 10_50723684_G->A 10 50723684 50723684 G A snp 6298.77 1/1 99 218 1 217 1.0 exonic rs4253073 ERCC6-PGBD3 AU synonymous SNV NM_170753 exon2 c.C1477T p.L493L 0.893371 0.999 0.849070 0.9070 0.9992 Uncertain 10_50724016_C->T 10 50724016 50724016 C T snp 6509.77 1/1 99 237 0 237 1.0 exonic rs4253072 ERCC6-PGBD3 AU nonsynonymous SNV NM_170753 exon2 c.G1145A p.R382K 0.996206 1 0.993926 0.9983 1 0.38 T 0.0 P -1.056 T 0.003 T 0.0 T Pathogenic 10_50732280_C->T 10 50732280 50732280 C T snp 1853.77 0/1 99 174 100 74 0.43 exonic rs2228528 ERCC6 AR,AD,AU nonsynonymous SNV NM_000124 exon5 c.G1196A p.G399D 0.237819 0.4911 0.162310 0.1958 0.4618 0.87 T 0.000 P -1.032 T 0.001 T 0.002 T ID=CM0910264;DIS=Bladder cancer, increased risk, association with;TAG=DP;PUB=20044625 DP Pathogenic 10_50736328_A->T 10 50736328 50736328 A T snp 654.77 0/1 99 38 12 26 0.68 intronic rs4253040 ERCC6 AR,AD,AU NM_000124 exon18 c.69602-134A>T 0.175519 0.4087 Uncertain 10_50740600_C->T 10 50740600 50740600 C T snp 1341.77 0/1 99 138 81 57 0.41 exonic rs4253013 ERCC6 AR,AD,AU synonymous SNV NM_000124 exon2 c.G411A p.L137L 0.175719 0.4107 0.078810 0.1190 0.3894 Uncertain 10_50740876_G->C 10 50740876 50740876 G C snp 2361.77 0/1 99 205 112 93 0.45 exonic rs2228524 ERCC6 AR,AD,AU synonymous SNV NM_000124 exon2 c.C135G p.L45L 0.590855 0.5079 0.627557 0.6946 0.5379 Uncertain 10_50818762_C->T 10 50818762 50818762 C T snp 1916.77 1/1 99 67 0 67 1.0 UTR5 rs1880675 SLC18A3 AU 0.851038 0.5694 0.972337 0.9401 0.6770 Uncertain 10_50820345_C->A 10 50820345 50820345 C A snp 6318.77 1/1 99 247 3 244 0.99 exonic rs8187730 SLC18A3 AU nonsynonymous SNV NM_003055 exon1 c.C1559A p.A520E 0.997404 1 0.995767 0.9989 1 1 T 0.0 P -1.009 T 0.0 T 0.0 T Pathogenic 10_50820424_G->T 10 50820424 50820424 G T snp 1361.77 0/1 99 124 66 58 0.47 UTR3 rs2269338 SLC18A3 AU 0.188099 0.4871 0.105045 0.1541 0.4640 Uncertain 10_50822226_T->G 10 50822226 50822226 T G snp 182.9 1/1 15 6 0 6 1.0 UTR5 rs7923716 CHAT AR 0.971845 1 0.9922 1 Uncertain 10_50823981_C->T 10 50823981 50823981 C T snp 138.77 0/1 99 11 6 5 0.45 intronic rs8178987 CHAT AR NM_020549 exon2 c.2312-566C>T 0.0830671 0.0685 Uncertain 10_50824038_C->T 10 50824038 50824038 C T snp 684.77 0/1 99 57 28 29 0.51 intronic rs8178988 CHAT AR NM_020549 exon2 c.2312-509C>T 0.0914537 0.0685 0.140604 0.1163 0.0661 Uncertain 10_50824244_C->A 10 50824244 50824244 C A snp 865.77 0/1 99 68 30 38 0.56 intronic rs11101182 CHAT AR NM_001142933 exon2 c.40+106C>A 0.0830671 0.0685 Uncertain 10_50827721_C->T 10 50827721 50827721 C T snp 319.77 0/1 36 15 2 13 0.87 intronic rs4838537 CHAT AR NM_001142933 exon4 c.3672-49C>T 0.124002 0.1944 0.044224 0.0879 0.2329 Uncertain 10_50828064_A->C 10 50828064 50828064 A C snp 700.77 0/1 99 65 35 30 0.46 intronic rs10857519 CHAT AR NM_001142933 exon4 c.3864+102A>C 0.0844649 0.0675 Uncertain 10_50828506_G->A 10 50828506 50828506 G A snp 6051.77 1/1 99 223 0 223 1.0 intronic rs1880677 CHAT AR NM_001142933 exon5 c.4442-34G>A 0.966254 1 0.971936 0.9861 1 Uncertain 10_50830010_G->A 10 50830010 50830010 G A snp 44.74 1/1 6 2 0 2 1.0 intronic rs7091436 CHAT AR NM_001142933 exon6 c.6044-132G>A Uncertain 10_50854441_C->T 10 50854441 50854441 C T snp 522.77 0/1 99 46 27 19 0.41 intronic rs3793793 CHAT AR NM_001142933 exon9 c.30452-109C>T 0.0804712 0.247 Uncertain 10_50854767_G->A 10 50854767 50854767 G A snp 212.77 0/1 99 22 14 8 0.36 intronic rs11101192 CHAT AR NM_001142933 exon9 c.30622+47G>A 0.0800719 0.244 0.011311 0.0472 0.2511 Uncertain 10_50856652_G->A 10 50856652 50856652 G A snp 2714.77 1/1 99 106 0 106 1.0 exonic rs4838544 CHAT AR nonsynonymous SNV NM_020549 exon9 c.G1381A p.V461M 0.966454 1 0.961018 0.9896 1 1 T 0.000 P -0.922 T 0.048 T 0.005 T Pathogenic 10_50856773_AC->- 10 50856773 50856774 AC - indel 229.73 0/1 99 29 11 18 0.62 intronic rs10580502 CHAT AR NM_001142933 exon10 c.32555+120_32555+121delAC 0.809505 0.7768 Uncertain 10_50857835_T->C 10 50857835 50857835 T C snp 1593.77 1/1 99 43 0 43 1.0 intronic rs1917813 CHAT AR NM_001142933 exon11 c.33584+153T>C 0.35643 0.3522 Uncertain 10_50857849_C->T 10 50857849 50857849 C T snp 1125.77 1/1 84 28 0 28 1.0 intronic rs3793797 CHAT AR NM_001142933 exon11 c.33584+167C>T 0.828075 0.7272 Uncertain 10_50857890_T->C 10 50857890 50857890 T C snp 52.74 1/1 6 2 0 2 1.0 intronic rs1917812 CHAT AR NM_001142933 exon11 c.33584+208T>C 0.989217 1 Uncertain 10_50863083_A->C 10 50863083 50863083 A C snp 2940.77 1/1 99 110 1 109 0.99 intronic rs12264845 CHAT AR NM_001142933 exon13 c.39042-57A>C 0.465655 0.7212 Uncertain 10_50863147_T->C 10 50863147 50863147 T C snp 5689.77 1/1 99 211 0 211 1.0 exonic rs8178992 CHAT AR synonymous SNV NM_020549 exon12 c.T1641C p.H547H 0.79353 0.8244 0.839843 0.8491 0.7947 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_multiple_submitters\x2c_no_conflicts;CLNACC=RCV000116692.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 10_50863565_C->T 10 50863565 50863565 C T snp 2657.77 1/1 99 82 0 82 1.0 intronic rs7076926 CHAT AR NM_001142933 exon14 c.39396+71C>T 0.794329 0.8244 0.839904 Uncertain 10_50887651_G->C 10 50887651 50887651 G C snp 1563.77 1/1 99 58 0 58 1.0 upstream rs1153781 C10orf53 AU 0.911941 0.7728 Uncertain 10_50901809_T->G 10 50901809 50901809 T G snp 1182.77 1/1 84 40 0 40 1.0 intronic rs1153797 C10orf53 AU NM_001042427 exon2 c.14076-10T>G 0.903155 0.7619 0.958404 0.9582 0.7424 Uncertain 10_50916484_A->G 10 50916484 50916484 A G snp 2201.77 1/1 99 78 0 78 1.0 exonic rs1258236 C10orf53 AU nonsynonymous SNV NM_182554 exon3 c.A295G p.R99G 0.808107 0.9643 0.822390 0.8956 0.9667 1 T 0.0 P -0.987 T 0.0 T 0.0 T Pathogenic 10_50916542_C->T 10 50916542 50916542 C T snp 928.77 0/1 99 118 73 45 0.38 exonic rs4838554 C10orf53 AU nonsynonymous SNV NM_182554 exon3 c.C353T p.T118I 0.390974 0.1548 0.472551 0.4481 0.1669 0.63 T 0.0 P -0.917 T 0.0 T 0.0 T Pathogenic 10_50943186_C->T 10 50943186 50943186 C T snp 1893.77 1/1 99 66 0 66 1.0 UTR3 rs1258256 OGDHL AU 0.429712 0.8839 Uncertain 10_50944009_T->C 10 50944009 50944009 T C snp 848.77 1/1 63 24 0 24 1.0 intronic rs1258257 OGDHL AU NM_001143997 exon2 c.795-59T>C 0.895767 0.9732 Uncertain 10_50944613_C->T 10 50944613 50944613 C T snp 2944.77 1/1 99 106 1 105 0.99 intronic rs1258258 OGDHL AU NM_001143997 exon3 c.1293+47C>T 0.434904 0.8958 0.351572 0.4727 0.8690 Uncertain 10_50947918_A->G 10 50947918 50947918 A G snp 2133.77 1/1 99 75 0 75 1.0 intronic rs1258259 OGDHL AU NM_001143997 exon7 c.4612+33A>G 0.897564 0.9722 0.896432 0.9465 0.9778 Uncertain 10_50952644_C->T 10 50952644 50952644 C T snp 453.77 0/1 99 39 18 21 0.54 intronic rs377615010 OGDHL AU NM_001143997 exon11 c.9422-51C>T 0.00219649 0.0109 Uncertain 10_50952851_C->T 10 50952851 50952851 C T snp 1160.77 1/1 84 42 0 42 1.0 intronic rs1268723 OGDHL AU NM_001143997 exon11 c.9525+53C>T 0.436701 0.9107 Uncertain 10_50957983_G->A 10 50957983 50957983 G A snp 94.28 1/1 9 3 0 3 1.0 intronic rs1258180 OGDHL AU NM_001143997 exon16 c.14589+121G>A 0.769369 0.9415 Uncertain 10_50959782_T->C 10 50959782 50959782 T C snp 264.8 1/1 21 7 0 7 1.0 intronic rs1258183 OGDHL AU NM_001143997 exon18 c.16599-90T>C 0.76877 0.9415 Uncertain 10_50960209_G->A 10 50960209 50960209 G A snp 4346.77 1/1 99 170 0 170 1.0 exonic rs1258184 OGDHL AU synonymous SNV NM_001143996 exon4 c.C393T p.L131L 0.464257 0.9107 0.387898 0.4814 0.8889 Uncertain 10_51124153_T->G 10 51124153 51124153 T G snp 1686.77 0/1 99 131 62 69 0.53 intronic PARG AU NM_001303489 exon12 c.96652+116T>G 0.401757 0.6022 Uncertain 10_51537292_C->A 10 51537292 51537292 C A snp 679.77 0/1 99 67 39 28 0.42 intronic TIMM23B AU 0.417532 0.5228 Uncertain 10_51539746_C->- 10 51539746 51539746 C - indel 574.73 0/1 99 38 19 19 0.5 intronic TIMM23B AU 0.417732 0.5228 Uncertain 10_51539762_G->T 10 51539762 51539762 G T snp 626.77 0/1 99 52 27 25 0.48 intronic TIMM23B AU 0.414936 0.5119 Uncertain 10_51540291_T->C 10 51540291 51540291 T C snp 670.77 0/1 99 64 33 31 0.48 intronic TIMM23B AU 0.545927 0.5377 Uncertain 10_51549496_T->C 10 51549496 51549496 T C snp 1929.77 0/1 99 190 106 84 0.44 intronic TIMM23B AU 0.482628 0.5347 0.529128 CLINSIG=pathogenic;CLNDBN=Prostate_cancer\x2c_hereditary\x2c_13;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000015312.24;CLNDSDB=MedGen:OMIM:Orphanet;CLNDSDBID=C2677821:611928:ORPHA1331 ID=CR054264;DIS=Prostate cancer, association with;TAG=DFP;PUB=20333697 DFP Uncertain 10_51549545_G->T 10 51549545 51549545 G T snp 5111.77 1/1 99 184 0 184 1.0 intronic TIMM23B AU 0.954073 1 0.947870 0.9851 1 Uncertain 10_51568378_T->G 10 51568378 51568378 T G snp 1136.77 0/1 99 129 80 49 0.38 exonic NCOA4 AU nonsynonymous SNV NM_001145260 exon2 c.T22G p.F8V 0.459665 0.5119 0.413491 0.5164 0.4887 1 T 0.0 P -0.927 T 0.0 T 0.0 T Pathogenic 10_51583019_ATT->- 10 51583019 51583021 ATT - indel 791.73 0/1 99 32 15 17 0.53 intronic NCOA4 AU NM_005437 exon7 c.3798+80_3798+82delATT 0.296326 0.4216 Uncertain 10_51585752_C->T 10 51585752 51585752 C T snp 117.77 0/1 66 6 2 4 0.67 intronic NCOA4 AU NM_005437 exon8 c.6458+153C>T 0.438299 0.4544 Uncertain 10_51592744_T->G 10 51592744 51592744 T G snp 311.77 0/1 99 20 8 12 0.6 intronic TIMM23 AU NM_006327 exon1 c.116+125T>G 0.296326 0.4216 Uncertain 10_51620231_A->G 10 51620231 51620231 A G snp 165.77 0/1 36 45 21 24 0.53 intronic rs4962277 TIMM23 AU NM_006327 exon6 c.27820-92A>G Uncertain 10_51620278_T->A 10 51620278 51620278 T A snp 549.77 0/1 99 123 55 68 0.55 intronic rs4962276 TIMM23 AU NM_006327 exon6 c.27820-45T>A 0.5226 0.5306 Uncertain 10_51620317_A->G 10 51620317 51620317 A G snp 924.77 0/1 99 198 94 104 0.53 intronic rs4962275 TIMM23 AU NM_006327 exon6 c.27820-6A>G 0.607428 0.5952 0.5931 0.5924 Uncertain 10_51620361_G->C 10 51620361 51620361 G C snp 827.77 0/1 99 250 184 66 0.26 exonic TIMM23 AU nonsynonymous SNV NM_006327 exon2 c.C128G p.S43C 0.1172 0.2895 0.03 T 1.000 D -0.502 T 0.013 T 0.018 T Pathogenic 10_51620499_G->A 10 51620499 51620499 G A snp 627.77 0/1 99 40 18 22 0.55 intronic TIMM23 AU NM_006327 exon6 c.27879+117G>A Uncertain 10_51623004_T->C 10 51623004 51623004 T C snp 323.77 0/1 99 28 10 18 0.64 intronic TIMM23 AU NM_006327 exon7 c.30605-104T>C Uncertain 10_51623024_A->C 10 51623024 51623024 A C snp 847.77 0/1 99 54 19 35 0.65 intronic TIMM23 AU NM_006327 exon7 c.30605-84A>C 0.504393 0.497 Uncertain 10_51623052_-->T 10 51623052 51623052 - T indel 2110.73 0/1 99 109 45 64 0.59 intronic TIMM23 AU NM_006327 exon7 c.30605-56insT 0.50599 0.5 Uncertain 10_51623061_G->A 10 51623061 51623061 G A snp 1583.77 0/1 99 129 55 74 0.57 intronic TIMM23 AU NM_006327 exon7 c.30605-47G>A 0.5022 0.4996 Uncertain 10_51623147_C->T 10 51623147 51623147 C T snp 1555.77 0/1 99 179 91 88 0.49 exonic TIMM23 AU nonsynonymous SNV NM_006327 exon1 c.G68A p.G23E 0.5019 0.4984 0.24 T 0.967 D -0.689 T 0.991 D 0.89 D Pathogenic 10_51623174_C->A 10 51623174 51623174 C A snp 1144.77 0/1 99 164 89 75 0.46 exonic TIMM23 AU nonsynonymous SNV NM_006327 exon1 c.G41T p.G14V 0.5007 0.4964 0.13 T 1.000 P -0.389 T 0.996 D 0.969 D Pathogenic 10_51623190_T->C 10 51623190 51623190 T C snp 847.77 0/1 99 135 74 61 0.45 exonic TIMM23 AU nonsynonymous SNV NM_006327 exon1 c.A25G p.N9D 0.5002 0.4981 0.46 T 0.006 P -0.878 T 0.013 T 0.015 T Pathogenic 10_51623602_C->G 10 51623602 51623602 C G snp 76.77 0/1 74 73 40 33 0.45 intronic TIMM23B AU Uncertain 10_51623621_-->G 10 51623621 51623621 - G indel 138.73 0/1 99 9 4 5 0.56 intronic TIMM23B AU Uncertain 10_51623630_A->- 10 51623630 51623630 A - indel 176.73 0/1 99 10 4 6 0.6 intronic TIMM23B AU 0.809904 0.8333 Uncertain 10_51623648_G->- 10 51623648 51623648 G - indel 289.73 0/1 99 21 11 10 0.48 intronic TIMM23B AU 0.73143 0.7421 0.793561 0.5330 0.5 Uncertain 10_51623866_A->G 10 51623866 51623866 A G snp 1076.77 0/1 99 140 67 73 0.52 intronic TIMM23B AU 0.6887 0.6261 Uncertain 10_51623962_A->G 10 51623962 51623962 A G snp 54.81 0/1 20 43 23 20 0.47 intronic TIMM23B AU Uncertain 10_51631508_T->C 10 51631508 51631508 T C snp 121.77 0/1 99 250 134 116 0.46 intronic rs11510885 TIMM23B AU 0.5388 0.5380 Uncertain 10_51631530_T->C 10 51631530 51631530 T C snp 455.77 0/1 99 250 134 116 0.46 intronic rs11516609 TIMM23B AU 0.5473 0.5633 Uncertain 10_51631588_A->G 10 51631588 51631588 A G snp 1050.77 0/1 99 250 121 129 0.52 intronic TIMM23B AU 0.5924 0.5646 Uncertain 10_51631812_A->G 10 51631812 51631812 A G snp 2877.77 0/1 99 250 90 160 0.64 intronic rs11516610 TIMM23B AU 0.5478 0.5415 Uncertain 10_51631967_G->C 10 51631967 51631967 G C snp 249.77 0/1 99 163 79 84 0.52 intronic rs11510887 TIMM23B AU 0.5368 0.5549 Uncertain 10_51631972_G->C 10 51631972 51631972 G C snp 198.77 0/1 99 147 70 77 0.52 intronic rs11516611 TIMM23B AU 0.5373 0.5602 Uncertain 10_51632031_A->G 10 51632031 51632031 A G snp 79.77 0/1 45 51 26 25 0.49 intronic TIMM23B AU Uncertain 10_51632855_A->G 10 51632855 51632855 A G snp 286.77 0/1 99 138 92 46 0.33 intronic rs4962270 TIMM23B AU NM_001290117 exon7 c.361231-99916A>G 0.5077 0.5023 Uncertain 10_51632906_G->A 10 51632906 51632906 G A snp 1179.77 0/1 99 250 153 97 0.39 intronic rs4247666 TIMM23B AU NM_001290117 exon7 c.361231-99865G>A 0.5059 0.5002 Uncertain 10_51632971_A->G 10 51632971 51632971 A G snp 1724.77 0/1 99 250 150 100 0.4 intronic rs4247667 TIMM23B AU NM_001290117 exon7 c.361231-99800A>G 0.5061 0.5007 Uncertain 10_51633027_T->C 10 51633027 51633027 T C snp 1855.77 0/1 99 233 139 94 0.4 intronic rs4614387 TIMM23B AU NM_001290117 exon7 c.361231-99744T>C 0.5079 0.5015 Uncertain 10_51827763_A->G 10 51827763 51827763 A G snp 92.77 0/1 99 23 18 5 0.22 UTR5 FAM21A AU 0.278754 0.6151 0.147787 0.2883 0.6174 Uncertain 10_51827934_G->A 10 51827934 51827934 G A snp 670.77 0/1 99 52 19 33 0.63 exonic FAM21A AU nonsynonymous SNV NM_001005751 exon2 c.G73A p.V25M 0.307508 0.3304 0.369486 0.4623 0.3823 0.01 T 1.000 P -0.916 T 0.288 T 0.188 T Pathogenic 10_51974489_T->C 10 51974489 51974489 T C snp 213.77 0/1 99 144 104 40 0.28 intronic rs569779735 ASAH2 AU NM_019893 exon13 c.27428-13T>C 0.0493211 0.0675 0 0 Uncertain 10_51978490_A->G 10 51978490 51978490 A G snp 633.77 1/1 48 18 0 18 1.0 intronic rs201395210 ASAH2 AU NM_019893 exon14 c.31316+100A>G 0.785743 0.9524 Uncertain 10_52008074_T->C 10 52008074 52008074 T C snp 311.78 1/1 24 9 0 9 1.0 intronic rs2813304 ASAH2 AU NM_019893 exon20 c.61169-169T>C 0.982628 1 Uncertain 10_52086939_C->G 10 52086939 52086939 C G snp 3600.77 1/1 99 135 0 135 1.0 intronic rs2246994 SGMS1 AU NM_147156 exon4 c.20063-25C>G 0.718251 0.7698 0.655313 0.5992 0.7440 Uncertain 10_52088004_C->T 10 52088004 52088004 C T snp 688.77 0/1 99 58 27 31 0.53 intronic rs12358176 SGMS1 AU NM_147156 exon4 c.20181+922C>T 0.190695 0.1399 Uncertain 10_52502788_GTGC->- 10 52502788 52502791 GTGC - indel 1845.73 0/1 99 79 30 49 0.62 intronic rs139833523 ASAH2B AU NM_001079516 exon2 c.86+18_86+21delGTGC 0.109026 0.3661 0.010064 0.0473 0.3292 Uncertain 10_52569637_G->A 10 52569637 52569637 G A snp 724.77 0/1 99 49 18 31 0.63 intronic rs10994563 A1CF AU NM_001198820 exon2 c.3165-16G>A 0.123802 0.0685 0.189682 0.1965 0.0607 Uncertain 10_52571047_C->T 10 52571047 52571047 C T snp 93.28 1/1 9 3 0 3 1.0 intronic rs4469834 A1CF AU NM_001198820 exon3 c.4448+111C>T 0.999601 1 Uncertain 10_52576068_G->A 10 52576068 52576068 G A snp 1557.77 1/1 99 55 0 55 1.0 intronic rs4245008 A1CF AU NM_001198820 exon5 c.9551+29G>A 0.795128 0.9663 0.776411 0.8277 0.9797 Uncertain 10_52605233_C->T 10 52605233 52605233 C T snp 780.77 0/1 99 74 40 34 0.46 intronic A1CF AU NM_001198820 exon10 c.37394+1351C>T Uncertain 10_52751088_-->GCT 10 52751088 52751088 - GCT indel 1050.73 0/1 55 29 4 25 0.86 intergenic rs35361017 A1CF AU 0.243411 0.3631 0.320845 Uncertain 10_53059201_G->A 10 53059201 53059201 G A snp 503.77 0/1 99 29 10 19 0.66 intronic rs10762013 PRKG1 AD NM_001098512 exon2 c.161952+146111G>A 0.259585 0.2679 Uncertain 10_53059209_A->G 10 53059209 53059209 A G snp 573.77 0/1 99 36 13 23 0.64 intronic rs10762014 PRKG1 AD NM_001098512 exon2 c.161952+146119A>G 0.260383 0.2679 Uncertain 10_53059406_T->C 10 53059406 53059406 T C snp 844.77 0/1 99 78 44 34 0.44 ncRNA_exonic rs2043556 MIR605 AU 0.259585 0.2679 0.188540 0.2467 0.2767 Uncertain 10_53458047_A->G 10 53458047 53458047 A G snp 2610.77 0/1 99 236 124 112 0.47 exonic rs3740228 CSTF2T AU synonymous SNV NM_015235 exon1 c.T1263C p.R421R 0.2498 0.2173 0.219745 0.1751 0.1972 Uncertain 10_53458167_C->T 10 53458167 53458167 C T snp 2135.77 0/1 99 173 92 81 0.47 exonic rs3824686 CSTF2T AU synonymous SNV NM_015235 exon1 c.G1143A p.R381R 0.0908546 0.1369 0.062510 0.0744 0.1074 Uncertain 10_53458998_A->G 10 53458998 53458998 A G snp 1251.77 0/1 99 122 70 52 0.43 exonic rs2292828 CSTF2T AU synonymous SNV NM_015235 exon1 c.T312C p.L104L 0.315695 0.2123 0.284253 0.1938 0.1954 Uncertain 10_53459459_C->T 10 53459459 53459459 C T snp 159.77 0/1 63 7 2 5 0.71 intronic rs3812670 PRKG1 AD NM_001098512 exon4 c.813206-104885C>T 0.090655 0.1369 Uncertain 10_53667443_C->T 10 53667443 53667443 C T snp 454.77 0/1 99 50 33 17 0.34 intronic rs10823860 PRKG1 AD NM_001098512 exon5 c.916192+113C>T 0.732628 0.6022 Uncertain 10_53667462_A->G 10 53667462 53667462 A G snp 354.77 0/1 99 39 25 14 0.36 intronic rs11000040 PRKG1 AD NM_001098512 exon5 c.916192+132A>G 0.21885 0.1567 Uncertain 10_53667476_G->A 10 53667476 53667476 G A snp 288.77 0/1 99 30 18 12 0.4 intronic rs7081919 PRKG1 AD NM_001098512 exon5 c.916192+146G>A 0.732628 0.6022 Uncertain 10_53841337_A->G 10 53841337 53841337 A G snp 787.77 0/1 99 68 36 32 0.47 intronic rs1904024 PRKG1 AD NM_001098512 exon7 c.1071253+18946A>G 0.729433 0.8254 0.8250 0.8232 Uncertain 10_53841640_G->- 10 53841640 53841640 G - indel 199.8 1/1 18 8 0 8 1.0 intronic rs398013448 PRKG1 AD NM_001098512 exon7 c.1071253+19249delG 1 1 Uncertain 10_53921754_C->A 10 53921754 53921754 C A snp 525.77 1/1 39 16 0 16 1.0 intronic rs10824173 PRKG1 AD NM_001098512 exon9 c.1170585+31C>A 0.726438 0.7599 0.734041 0.7814 0.7630 Uncertain 10_54050079_G->A 10 54050079 54050079 G A snp 688.77 0/1 99 60 31 29 0.48 intronic rs10762675 PRKG1 AD NM_001098512 exon17 c.1298912+29G>A 0.402955 0.499 0.493003 0.5174 0.5010 Uncertain 10_54053817_C->T 10 54053817 54053817 C T snp 130.77 0/1 99 17 11 6 0.35 UTR3 rs1881597 PRKG1 AD 0.294329 0.2966 Uncertain 10_54528154_T->G 10 54528154 54528154 T G snp 2311.77 0/1 99 164 70 94 0.57 exonic rs200749792 MBL2 AD nonsynonymous SNV NM_000242 exon4 c.A490C p.T164P 0.000599042 0.002 0.0004 0.0055 0.02 T 0.973 N -0.978 T 0.996 D 0.986 D Pathogenic 10_54528266_G->C 10 54528266 54528266 G C snp 3230.05 1/1 99 119 1 118 0.99 exonic rs930507 MBL2 AD synonymous SNV NM_000242 exon4 c.C378G p.L126L 0.738818 0.7302 0.770609 0.8041 0.7616 ID=CM068190;DIS=Increased serum MBL level;TAG=FP;PUB=16750996 FP Uncertain 10_54528298_G->C 10 54528298 54528298 G C snp 2665.77 1/1 99 94 0 94 1.0 intronic rs930508 MBL2 AD NM_000242 exon1 c.374+28G>C 0.729633 0.7242 0.761766 0.7980 0.7595 Uncertain 10_54528353_C->G 10 54528353 54528353 C G snp 1117.77 1/1 81 35 0 35 1.0 intronic rs930509 MBL2 AD NM_000242 exon1 c.374+83C>G 0.824281 0.8204 Uncertain 10_54529257_A->G 10 54529257 54529257 A G snp 40.77 0/1 33 3 1 2 0.67 intronic rs1838065 MBL2 AD NM_000242 exon2 c.1179+182A>G 0.30611 0.4534 Uncertain 10_54530636_A->G 10 54530636 54530636 A G snp 422.77 0/1 99 26 11 15 0.58 intronic rs1982266 MBL2 AD NM_000242 exon3 c.2650+90A>G 0.477436 0.6062 Uncertain 10_54530694_G->T 10 54530694 54530694 G T snp 301.78 1/1 24 8 0 8 1.0 intronic rs1982267 MBL2 AD NM_000242 exon3 c.2650+148G>T 0.988818 1 Uncertain 10_54531461_G->A 10 54531461 54531461 G A snp 602.77 0/1 99 35 13 22 0.63 upstream rs7095891 MBL2 AD 0.283347 0.1379 ID=CR065644;DIS=Mannose-binding protein deficiency, association;TAG=DP;PUB=16885193 DP Uncertain 10_54531534_G->A 10 54531534 54531534 G A snp 46.78 0/1 27 3 1 2 0.67 upstream rs11003123 MBL2 AD 0.283746 0.1379 Uncertain 10_55568972_T->G 10 55568972 55568972 T G snp 1621.77 0/1 99 118 56 62 0.53 exonic rs11003863 PCDH15 AR,AO unknown 0.298123 0.6796 0.148641 0.2489 0.7138 1 T 1.000 P -0.924 T 0.012 T 0.01 T CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000037010.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 10_55569202_T->G 10 55569202 55569202 T G snp 2896.77 0/1 99 249 121 128 0.51 exonic rs16937769 PCDH15 AR,AO unknown 0.0209665 0.0506 0.009903 0.0094 0.0602 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000037008.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 10_55570300_A->C 10 55570300 55570300 A C snp 1877.77 0/1 99 117 43 74 0.63 intronic rs76528829 PCDH15 AR,AO NM_001142771 exon2 c.3977-15A>C 0.0125799 0.0506 0.000291 0.0065 0.0608 Uncertain 10_55582905_G->T 10 55582905 55582905 G T snp 6047.77 1/1 99 204 0 204 1.0 exonic rs10825114 PCDH15 AR,AO synonymous SNV NM_033056 exon33 c.C4581A p.P1527P 0.283746 0.7014 0.089588 0.1713 0.7412 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_multiple_submitters\x2c_no_conflicts;CLNACC=RCV000039741.4;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 10_55587034_A->G 10 55587034 55587034 A G snp 951.77 1/1 72 29 0 29 1.0 intronic rs10740555 PCDH15 AR,AO NM_001142771 exon3 c.20810-114A>G 0.503395 0.7242 Uncertain 10_55588137_G->A 10 55588137 55588137 G A snp 711.77 1/1 54 26 0 26 1.0 intronic rs4570494 PCDH15 AR,AO NM_001142764 exon4 c.6707-187G>A 0.695088 0.997 Uncertain 10_55588484_G->T 10 55588484 55588484 G T snp 220.84 1/1 18 6 0 6 1.0 intronic rs4935096 PCDH15 AR,AO NM_001142764 exon4 c.6716+151G>T 0.452276 0.7292 Uncertain 10_55588495_A->G 10 55588495 55588495 A G snp 139.03 1/1 12 4 0 4 1.0 intronic rs4935472 PCDH15 AR,AO NM_001142764 exon4 c.6716+162A>G 0.452276 0.7292 Uncertain 10_55590850_G->A 10 55590850 55590850 G A snp 1845.77 1/1 99 53 0 53 1.0 intronic rs10825117 PCDH15 AR,AO NM_001142764 exon5 c.9457-224G>A 0.440495 0.7232 Uncertain 10_55590943_AGAC->- 10 55590943 55590946 AGAC - indel 9312.73 1/1 99 143 0 143 1.0 intronic rs397754688 PCDH15 AR,AO NM_001142764 exon5 c.9457-131_9457-128delAGAC 0.440895 0.7232 0.4203 0.7377 Uncertain 10_55590950_C->T 10 55590950 55590950 C T snp 3970.77 1/1 99 147 0 147 1.0 intronic rs77597438 PCDH15 AR,AO NM_001142764 exon5 c.9457-124C>T 0.440895 0.7232 0.4193 0.7368 Uncertain 10_55591313_G->A 10 55591313 55591313 G A snp 314.78 1/1 24 10 0 10 1.0 intronic rs7089209 PCDH15 AR,AO NM_001142764 exon5 c.9676+20G>A 0.440296 0.7232 0.352661 0.4331 0.7589 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000039735.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 10_55599939_-->TTG 10 55599939 55599939 - TTG indel 326.8 1/1 18 6 0 6 1.0 intronic rs10671958 PCDH15 AR,AO NM_001142764 exon6 c.18462-140insTTG 0.650559 0.9921 Uncertain 10_55617054_T->C 10 55617054 55617054 T C snp 545.77 0/1 99 47 21 26 0.55 intronic rs80143445 PCDH15 AR,AO NM_001142764 exon7 c.35406+31T>C 0.0201677 0.0536 0.007773 0.0086 0.0594 Uncertain 10_55617177_T->C 10 55617177 55617177 T C snp 133.03 1/1 12 5 0 5 1.0 intronic rs7083307 PCDH15 AR,AO NM_001142764 exon7 c.35406+154T>C 0.764377 0.997 Uncertain 10_55626630_-->A 10 55626630 55626630 - A indel 1873.73 1/1 99 85 1 84 0.99 intronic rs527812557 PCDH15 AR,AO NM_001142764 exon8 c.45000+13insA 0.371406 0.6835 0.2537 0.6769 CLINSIG=non-pathogenic,non-pathogenic;CLNDBN=not_specified,not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter,criteria_provided\x2c_single_submitter;CLNACC=RCV000156335.1,RCV000039727.2;CLNDSDB=MedGen,MedGen;CLNDSDBID=CN169374,CN169374 Uncertain 10_55626750_G->A 10 55626750 55626750 G A snp 216.84 1/1 18 6 0 6 1.0 intronic rs7904289 PCDH15 AR,AO NM_001142764 exon8 c.45000+133G>A 0.854433 0.998 Uncertain 10_55663198_A->C 10 55663198 55663198 A C snp 1664.77 1/1 99 55 0 55 1.0 intronic rs10740559 PCDH15 AR,AO NM_001142764 exon9 c.81513+68A>C 0.839058 0.999 Uncertain 10_55663202_T->C 10 55663202 55663202 T C snp 1516.77 1/1 99 50 0 50 1.0 intronic rs2593124 PCDH15 AR,AO NM_001142764 exon9 c.81513+72T>C 0.847244 0.999 Uncertain 10_55719652_C->T 10 55719652 55719652 C T snp 1216.77 0/1 99 98 49 49 0.5 intronic rs2593107 PCDH15 AR,AO NM_001142764 exon12 c.137987+48C>T 0.734026 0.8601 0.679071 0.7363 0.8863 Uncertain 10_55721761_A->G 10 55721761 55721761 A G snp 218.84 1/1 18 6 0 6 1.0 intronic rs2456699 PCDH15 AR,AO NM_001142764 exon13 c.140035+109A>G 0.843251 0.999 Uncertain 10_55755491_C->T 10 55755491 55755491 C T snp 1966.77 0/1 99 160 73 87 0.54 exonic rs2135720 PCDH15 AR,AO nonsynonymous SNV NM_033056 exon21 c.G2786A p.R929Q 0.315296 0.495 0.211133 0.2562 0.4803 0.51 T 0.001 P -0.921 T 0.289 T 0.056 T CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000039715.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 10_55755600_G->C 10 55755600 55755600 G C snp 278.77 0/1 99 23 13 10 0.43 intronic rs2253647 PCDH15 AR,AO NM_001142764 exon14 c.173908+75G>C 0.103834 0.1141 Uncertain 10_55779909_G->C 10 55779909 55779909 G C snp 823.77 0/1 99 59 26 33 0.56 intronic rs2660169 PCDH15 AR,AO NM_001142764 exon15 c.198334-42G>C 0.236022 0.25 0.173535 0.1028 0.2528 Uncertain 10_55838950_A->G 10 55838950 55838950 A G snp 1270.77 1/1 93 34 0 34 1.0 intronic rs1911433 PCDH15 AR,AO NM_001142764 exon18 c.257473-140A>G 0.784145 0.6627 Uncertain 10_55892600_-->AC 10 55892600 55892600 - AC indel 1383.73 ./1 99 31 0 31 1.0 intronic rs201069783 PCDH15 AR,AO NM_001142764 exon20 c.311017-34insAC 0.184305 0.3155 0.1755 0.3020 Uncertain 10_55892600_-->ACAC 10 55892600 55892600 - ACAC indel 1383.73 ./1 99 31 0 31 1.0 intronic rs201069783 PCDH15 AR,AO NM_001142764 exon20 c.311017-34insACAC 0.187899 0.5179 0.1477 0.5086 Uncertain 10_55912681_C->T 10 55912681 55912681 C T snp 180.9 1/1 15 5 0 5 1.0 intronic rs12764713 PCDH15 AR,AO NM_001142764 exon21 c.331242-178C>T 0.753195 0.8919 Uncertain 10_55949151_G->A 10 55949151 55949151 G A snp 1152.77 1/1 81 44 0 44 1.0 intronic rs16905686 PCDH15 AR,AO NM_001142769 exon24 c.380693+7G>A 0.34365 0.8403 0.126046 0.2871 0.8344 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000037006.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 10_55949265_T->- 10 55949265 55949265 T - indel 526.73 1/1 48 19 0 19 1.0 intronic rs5785045 PCDH15 AR,AO NM_001142769 exon24 c.380693+121delT 0.636182 0.9286 Uncertain 10_55955444_T->G 10 55955444 55955444 T G snp 3887.77 1/1 99 137 0 137 1.0 exonic rs4935502 PCDH15 AR,AO nonsynonymous SNV NM_033056 exon11 c.A1304C p.D435A 0.345248 0.8413 0.131632 0.2380 0.8434 0.07 T 0.974 P -1.056 T 0.994 D 0.91 D CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000039699.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 10_56287689_A->C 10 56287689 56287689 A C snp 1300.77 1/1 96 51 1 50 0.98 intronic rs10825347 PCDH15 AR,AO NM_001142764 exon32 c.706020+52A>C 0.606629 0.756 0.496146 0.4936 0.7598 Uncertain 10_56288081_G->A 10 56288081 56288081 G A snp 649.77 0/1 99 63 38 25 0.4 intronic rs11004349 PCDH15 AR,AO NM_001142771 exon33 c.721809-66G>A 0.160743 0.3353 0.068769 Uncertain 10_56335031_A->G 10 56335031 56335031 A G snp 192.9 1/1 15 9 0 9 1.0 intronic rs7070334 PCDH15 AR,AO NM_001142771 exon33 c.721824+46869A>G 0.910144 0.9177 0 . 0.0 P Uncertain 10_56335067_A->G 10 56335067 56335067 A G snp 284.8 1/1 21 14 0 14 1.0 intronic rs7070440 PCDH15 AR,AO NM_001142771 exon33 c.721824+46905A>G 0.909944 0.9167 0 . Uncertain 10_56335099_C->T 10 56335099 56335099 C T snp 363.78 1/1 27 17 0 17 1.0 intronic rs10825362 PCDH15 AR,AO NM_001142771 exon33 c.721824+46937C>T 0.910144 0.9177 Uncertain 10_56345133_C->G 10 56345133 56345133 C G snp 96.28 1/1 9 3 0 3 1.0 intronic rs4457656 PCDH15 AR,AO NM_001142771 exon33 c.721824+56971C>G 0.874002 0.8185 Uncertain 10_56345135_G->C 10 56345135 56345135 G C snp 99.28 1/1 9 3 0 3 1.0 intronic rs4582875 PCDH15 AR,AO NM_001142771 exon33 c.721824+56973G>C 0.872204 0.8185 Uncertain 10_56345303_T->C 10 56345303 56345303 T C snp 1091.77 1/1 81 42 0 42 1.0 intronic rs4570492 PCDH15 AR,AO NM_001142771 exon33 c.721824+57141T>C 0.874201 0.8185 0.8886 0.8774 0.34 T 1.000 P -0.993 T Uncertain 10_56345335_T->C 10 56345335 56345335 T C snp 1325.77 1/1 96 43 0 43 1.0 intronic rs2026413 PCDH15 AR,AO NM_001142771 exon33 c.721824+57173T>C 0.789137 0.8185 0.7539 0.8571 Uncertain 10_56345378_-->G 10 56345378 56345378 - G indel 2476.73 1/1 99 61 1 60 0.98 intronic rs11396767 PCDH15 AR,AO NM_001142771 exon33 c.721824+57216insG 0.896765 0.9028 Uncertain 10_56345425_G->A 10 56345425 56345425 G A snp 1530.77 1/1 99 56 0 56 1.0 intronic rs2026412 PCDH15 AR,AO NM_001142771 exon33 c.721824+57263G>A 0.789736 0.8185 Uncertain 10_56345491_C->G 10 56345491 56345491 C G snp 1137.77 1/1 84 44 0 44 1.0 intronic rs2026411 PCDH15 AR,AO NM_001142771 exon33 c.721824+57329C>G 0.874201 0.8185 Uncertain 10_56345511_A->G 10 56345511 56345511 A G snp 909.77 1/1 69 32 0 32 1.0 intronic rs2026410 PCDH15 AR,AO NM_001142771 exon33 c.721824+57349A>G 0.790335 0.8185 Uncertain 10_58118630_T->C 10 58118630 58118630 T C snp 6820.77 1/1 99 250 0 250 1.0 exonic rs2241666 ZWINT AU nonsynonymous SNV NM_007057 exon6 c.A559G p.R187G 0.761981 0.8313 0.672536 0.6805 0.8206 0.56 T 0.0 P -0.980 T 0.0 T 0.003 T Pathogenic 10_58119976_G->A 10 58119976 58119976 G A snp 6663.77 1/1 99 228 0 228 1.0 intronic rs3861049 ZWINT AU NM_032997 exon6 c.1724+74G>A 0.997204 1 Uncertain 10_59064371_C->G 10 59064371 59064371 C G snp 99.28 1/1 9 3 0 3 1.0 upstream rs1275284 MIR3924 AU 0.986422 1 Uncertain 10_60029283_G->A 10 60029283 60029283 G A snp 300.77 0/1 99 14 4 10 0.71 intronic rs2297887 CISD1 AU NM_018464 exon1 c.31+219G>A 0.110423 0.0952 Uncertain 10_60047269_A->- 10 60047269 60047269 A - indel 1032.73 0/1 99 52 25 27 0.52 intronic rs35649714 CISD1 AU NM_018464 exon3 c.18287-51delA 0.0872604 0.0962 0.111422 Uncertain 10_60095143_T->C 10 60095143 60095143 T C snp 563.77 1/1 42 21 0 21 1.0 intronic rs1905456 UBE2D1 AU NM_003338 exon1 c.24+158T>C 0.988419 1 Uncertain 10_60147807_C->T 10 60147807 60147807 C T snp 46.77 0/1 33 3 1 2 0.67 intronic rs45447300 TFAM AR NM_001270782 exon3 c.2642-142C>T 0.0279553 0.0903 Uncertain 10_60462096_C->G 10 60462096 60462096 C G snp 54.74 1/1 6 2 0 2 1.0 intronic rs4948540 BICC1 AD NM_001080512 exon3 c.189000+193C>G 0.678514 0.8968 Uncertain 10_60545045_C->T 10 60545045 60545045 C T snp 34.77 0/1 63 5 3 2 0.4 intronic rs12356664 BICC1 AD NM_001080512 exon4 c.271937+205C>T 0.481829 0.5139 Uncertain 10_60545061_C->A 10 60545061 60545061 C A snp 44.74 1/1 6 2 0 2 1.0 intronic rs11006261 BICC1 AD NM_001080512 exon4 c.271937+221C>A 0.820887 0.998 Uncertain 10_60558125_A->T 10 60558125 60558125 A T snp 2796.77 1/1 99 98 0 98 1.0 intronic rs2393503 BICC1 AD NM_001080512 exon11 c.285255-33A>T 0.615415 0.7361 0.623750 0.6949 0.7378 Uncertain 10_60559047_G->C 10 60559047 60559047 G C snp 973.77 1/1 72 29 0 29 1.0 intronic rs2893789 BICC1 AD NM_001080512 exon12 c.286109+35G>C 0.796925 0.8641 0.784998 0.7970 0.8774 Uncertain 10_60563062_G->C 10 60563062 60563062 G C snp 873.77 1/1 63 33 0 33 1.0 intronic rs4245600 BICC1 AD NM_001080512 exon15 c.290099+60G>C 0.511182 0.7252 Uncertain 10_60566137_G->A 10 60566137 60566137 G A snp 881.77 1/1 66 28 1 27 0.96 intronic rs3740451 BICC1 AD NM_001080512 exon16 c.293440-206G>A 0.707468 0.7262 Uncertain 10_60573753_G->T 10 60573753 60573753 G T snp 7506.77 1/1 99 250 1 249 1.0 intronic rs9416746 BICC1 AD NM_001080512 exon18 c.300843+7G>T 0.746605 0.749 0.751192 0.7469 0.7589 0.0 P -1.015 T 0.0 T 0.0 T Uncertain 10_60577393_T->C 10 60577393 60577393 T C snp 3553.77 1/1 99 132 0 132 1.0 exonic rs4344442 BICC1 AD synonymous SNV NM_001080512 exon19 c.T2605C p.L869L 0.73742 0.755 0.737967 0.7475 0.7668 Uncertain 10_60588553_T->C 10 60588553 60588553 T C snp 4051.77 1/1 99 152 0 152 1.0 exonic rs4948550 BICC1 AD nonsynonymous SNV NM_001080512 exon21 c.T2827C p.S943P 0.607428 0.7292 0.620483 0.7003 0.7456 0.54 T 1.0 P -1.023 T 0.0 T 0.0 T Pathogenic 10_60996453_G->A 10 60996453 60996453 G A snp 1536.77 1/1 99 43 0 43 1.0 intronic rs10763600 PHYHIPL AU NM_001143774 exon3 c.59067+36G>A 0.987021 1 0.984995 0.9961 1 Uncertain 10_61005244_G->C 10 61005244 61005244 G C snp 4636.77 1/1 99 168 0 168 1.0 exonic rs2452505 PHYHIPL AU nonsynonymous SNV NM_001143774 exon5 c.G946C p.V316L 0.739617 0.8829 0.739274 0.8106 0.9085 1 T 1.000 P -0.969 T 0.0 T 0.0 T Pathogenic 10_61007534_A->G 10 61007534 61007534 A G snp 2752.77 1/1 99 90 0 90 1.0 UTR3 rs1459996 PHYHIPL AU 0.735224 0.8829 0.731355 0.8087 0.9086 Uncertain 10_61007592_G->A 10 61007592 61007592 G A snp 674.77 1/1 51 20 0 20 1.0 intronic rs2446724 FAM13C AU NM_001143773 exon1 c.124+95G>A 0.987021 1 Uncertain 10_61014056_C->A 10 61014056 61014056 C A snp 1926.77 1/1 99 71 0 71 1.0 intronic rs1903252 FAM13C AU NM_001143773 exon4 c.6734-51C>A 0.728035 0.8819 0.742913 0.8108 0.9077 Uncertain 10_61022054_G->A 10 61022054 61022054 G A snp 88.28 1/1 9 3 0 3 1.0 intronic rs1459990 FAM13C AU NM_001143773 exon5 c.14820-139G>A 0.734824 0.8819 Uncertain 10_61043451_G->C 10 61043451 61043451 G C snp 54.74 1/1 6 2 0 2 1.0 intronic rs284618 FAM13C AU NM_001143773 exon9 c.35834+244G>C 0.987819 1 Uncertain 10_61062538_T->C 10 61062538 61062538 T C snp 1391.77 0/1 99 119 61 58 0.49 intronic rs72808548 FAM13C AU NM_001143773 exon10 c.55187-22T>C 0.165535 0.2619 0.146086 0.1896 0.2733 Uncertain 10_61083690_-->GTTG 10 61083690 61083690 - GTTG indel 6554.73 1/1 99 91 0 91 1.0 intronic rs34090373 FAM13C AU NM_001143773 exon11 c.76374-57insGTTG 0.486821 0.4851 Uncertain 10_61111975_G->C 10 61111975 61111975 G C snp 519.77 1/1 39 15 0 15 1.0 intronic rs284606 FAM13C AU NM_001143773 exon12 c.104656-54G>C 0.763179 0.6508 Uncertain 10_61120685_G->A 10 61120685 61120685 G A snp 875.77 0/1 99 81 47 34 0.42 intronic FAM13C AU NM_001166698 exon14 c.113412-100G>A Uncertain 10_61122268_-->TA 10 61122268 61122268 - TA indel 2466.73 1/1 99 46 0 46 1.0 UTR5 rs3078330 FAM13C AU 0.996406 1 0.996165 0.9989 1 Uncertain 10_61414011_G->T 10 61414011 61414011 G T snp 7815.77 1/1 99 249 0 249 1.0 exonic rs2242206 SLC16A9 AU nonsynonymous SNV NM_194298 exon5 c.C773A p.T258K 0.345048 0.5804 0.207827 0.3348 0.5690 0.93 T 0.0 P -0.971 T 0.116 T 0.038 T Pathogenic 10_61443808_A->G 10 61443808 61443808 A G snp 3027.77 1/1 99 110 0 110 1.0 intronic rs1171660 SLC16A9 AU NM_194298 exon5 c.31324-45A>G 0.513379 0.7143 0.371982 0.4301 0.7079 Uncertain 10_61552692_G->T 10 61552692 61552692 G T snp 3962.77 1/1 99 131 2 129 0.98 exonic rs1053266 CCDC6 AU nonsynonymous SNV NM_005436 exon9 c.C1408A p.P470T 0.435304 0.6121 0.422344 0.5020 0.6035 0.02 T 1.000 P -0.870 T 0.998 D 0.987 D Pathogenic 10_61552774_C->T 10 61552774 61552774 C T snp 1647.77 1/1 99 60 0 60 1.0 exonic rs1053265 CCDC6 AU synonymous SNV NM_005436 exon9 c.G1326A p.P442P 0.611621 0.6647 0.652545 0.7276 0.6541 Uncertain 10_61665886_C->A 10 61665886 61665886 C A snp 3289.77 1/1 99 112 0 112 1.0 exonic rs1171830 CCDC6 AU synonymous SNV NM_005436 exon1 c.G297T p.V99V 0.375399 0.627 0.350223 0.4731 0.6493 Uncertain 10_61802242_C->T 10 61802242 61802242 C T snp 96.28 1/1 9 3 0 3 1.0 intronic rs2393602 ANK3 AR 0.672923 0.8115 Uncertain 10_61802342_C->A 10 61802342 61802342 C A snp 4230.77 1/1 99 130 1 129 0.99 intronic rs2393603 ANK3 AR 0.709665 0.8145 Uncertain 10_61802353_A->T 10 61802353 61802353 A T snp 5049.77 1/1 99 157 0 157 1.0 intronic rs2393604 ANK3 AR 0.709465 0.8145 Uncertain 10_61802374_A->T 10 61802374 61802374 A T snp 6158.77 1/1 99 211 0 211 1.0 intronic rs2393605 ANK3 AR 0.709864 0.8145 Uncertain 10_61802375_A->T 10 61802375 61802375 A T snp 6199.77 1/1 99 211 0 211 1.0 intronic rs2393606 ANK3 AR 0.709864 0.8145 Uncertain 10_61802550_A->T 10 61802550 61802550 A T snp 6421.77 1/1 99 223 0 223 1.0 intronic rs9888033 ANK3 AR NM_020987 exon2 c.69+33A>T 0.611821 0.7579 0.586806 0.5760 0.7583 Uncertain 10_61802561_G->T 10 61802561 61802561 G T snp 5573.77 1/1 99 189 0 189 1.0 intronic rs2393607 ANK3 AR NM_020987 exon2 c.69+44G>T 0.710463 0.8145 0.731278 0.7288 0.8173 Uncertain 10_61802577_-->C 10 61802577 61802577 - C indel 5481.73 1/1 99 148 0 148 1.0 intronic rs397956283 ANK3 AR NM_020987 exon2 c.69+60insC 0.996206 1 0.993610 Uncertain 10_61815335_C->A 10 61815335 61815335 C A snp 216.84 1/1 18 7 0 7 1.0 intronic rs2393609 ANK3 AR NM_020987 exon3 c.12967-80C>A 0.918331 0.9107 Uncertain 10_61819049_T->G 10 61819049 61819049 T G snp 3981.77 1/1 99 128 0 128 1.0 intronic rs10733757 ANK3 AR NM_020987 exon4 c.16649-48T>G 0.84345 0.9494 0.801630 0.8123 0.9588 Uncertain 10_61823109_A->G 10 61823109 61823109 A G snp 1147.77 1/1 81 42 0 42 1.0 intronic rs4568956 ANK3 AR NM_020987 exon5 c.20564+97A>G 0.746406 0.8373 Uncertain 10_61868222_T->C 10 61868222 61868222 T C snp 54.74 1/1 6 2 0 2 1.0 intronic rs2393585 ANK3 AR NM_020987 exon18 c.66139-365T>C 0.70607 0.9276 Uncertain 10_61871430_C->G 10 61871430 61871430 C G snp 744.77 1/1 54 25 0 25 1.0 intronic rs10821675 ANK3 AR NM_020987 exon19 c.71534-2552C>G 0.769569 0.9236 Uncertain 10_61893881_-->T 10 61893881 61893881 - T indel 87.73 0/1 40 7 2 5 0.71 intronic rs3217306 ANK3 AR NM_020987 exon20 c.91580-147insT 0.46226 0.248 Uncertain 10_61893898_T->G 10 61893898 61893898 T G snp 252.77 0/1 99 20 7 13 0.65 intronic rs3213829 ANK3 AR NM_020987 exon20 c.91580-130T>G 0.467851 0.248 Uncertain 10_61900356_A->C 10 61900356 61900356 A C snp 969.77 1/1 72 29 1 28 0.97 intronic rs6479694 ANK3 AR NM_001149 exon21 c.97661+247A>C 0.934105 0.9107 Uncertain 10_61941250_G->A 10 61941250 61941250 G A snp 1424.77 0/1 99 123 58 65 0.53 intronic rs10994246 ANK3 AR NM_020987 exon27 c.138737+65G>A 0.130391 0.2004 Uncertain 10_61994575_A->G 10 61994575 61994575 A G snp 988.77 0/1 99 84 46 38 0.45 intronic rs199657518 ANK3 AR NM_020987 exon37 c.192096+31A>G 0.000599042 0.003 0.0001 0.0017 Uncertain 10_62039654_G->C 10 62039654 62039654 G C snp 707.77 0/1 99 67 37 30 0.45 intronic rs1380451 ANK3 AR NM_020987 exon43 c.236949+257G>C 0.511382 0.6151 Uncertain 10_62375033_A->G 10 62375033 62375033 A G snp 599.77 0/1 99 59 34 25 0.42 intergenic rs1837947 ANK3 AR 0.130791 0.121 Uncertain 10_62375046_G->A 10 62375046 62375046 G A snp 699.77 0/1 99 53 22 31 0.58 intergenic rs16915231 ANK3 AR 0.178714 0.2292 Uncertain 10_62539788_C->G 10 62539788 62539788 C G snp 719.77 1/1 54 23 0 23 1.0 intronic rs2260179 CDK1 AU 0.365415 0.6141 Uncertain 10_62548098_G->C 10 62548098 62548098 G C snp 1501.77 1/1 99 40 0 40 1.0 intronic rs2456772 CDK1 AU NM_001786 exon5 c.8065+110G>C 0.764976 0.8423 Uncertain 10_62551889_A->G 10 62551889 62551889 A G snp 3458.77 1/1 99 114 0 114 1.0 intronic rs2456777 CDK1 AU NM_001786 exon7 c.11982-16A>G 0.769768 0.8423 0.731326 0.7765 0.8514 Uncertain 10_62551890_A->T 10 62551890 62551890 A T snp 3469.77 1/1 99 115 0 115 1.0 intronic rs2456778 CDK1 AU NM_001786 exon7 c.11982-15A>T 0.79353 0.8433 0.759664 0.7913 0.8513 Uncertain 10_62553763_A->G 10 62553763 62553763 A G snp 1286.77 1/1 93 48 0 48 1.0 UTR3 rs1871446 CDK1 AU 0.771366 0.8423 0.732558 0.7779 0.8534 Uncertain 10_62634621_C->T 10 62634621 62634621 C T snp 3480.77 1/1 99 119 0 119 1.0 intronic rs2279942 RHOBTB1 AU NM_001242359 exon3 c.3472-90C>T 0.378794 0.2262 Uncertain 10_62634839_G->A 10 62634839 62634839 G A snp 2170.77 0/1 99 205 105 100 0.49 intronic rs12251212 RHOBTB1 AU NM_001242359 exon3 c.3561+39G>A 0.126797 0.1389 0.119560 0.1029 0.1367 Uncertain 10_62652864_A->- 10 62652864 62652864 A - indel 102.87 1/1 15 6 0 6 1.0 intronic rs11304357 RHOBTB1 AU NM_001242359 exon7 c.21514+111delA 0.444888 0.6171 Uncertain 10_62671305_G->A 10 62671305 62671305 G A snp 2698.77 0/1 99 247 139 108 0.44 UTR5 rs2271126 RHOBTB1 AU 0.302316 0.2173 0.277795 0.2049 0.2326 Uncertain 10_63172694_A->G 10 63172694 63172694 A G snp 1201.77 0/1 99 112 55 57 0.51 intronic rs16916115 TMEM26 AU NM_178505 exon2 c.3137-522A>G 0.119409 0.2103 0.1199 0.2405 0 D 0.001 P -1.064 T Uncertain 10_63175794_G->A 10 63175794 63175794 G A snp 492.77 0/1 99 50 28 22 0.44 intronic rs16916122 TMEM26 AU NM_178505 exon2 c.3214+2501G>A 0.258387 0.2232 0.1731 0.2980 Uncertain 10_63190849_C->G 10 63190849 63190849 C G snp 122.77 0/1 99 13 8 5 0.38 intronic rs45599333 TMEM26 AU NM_178505 exon4 c.20897-127C>G 0.147364 0.2044 Uncertain 10_63422754_-->GGGCCGACCCCGGCA 10 63422754 63422754 - GGGCCGACCCCGGCA indel 15539.7 1/1 99 95 0 95 1.0 UTR5 rs11269470 C10orf107 AU 0.989816 1 0.9931 0.9964 Uncertain 10_63450275_T->C 10 63450275 63450275 T C snp 685.77 0/1 99 58 27 31 0.53 intronic rs76616530 C10orf107 AU NM_173554 exon4 c.9306-31T>C 0.00898562 0.0437 0.000154 0.0036 0.0492 Uncertain 10_63520698_T->C 10 63520698 63520698 T C snp 1270.77 1/1 90 49 0 49 1.0 exonic rs1992625 C10orf107 AU synonymous SNV NM_173554 exon6 c.T489C p.F163F 0.872005 0.9127 0.818440 0.8352 0.9112 Uncertain 10_63818921_A->- 10 63818921 63818921 A - indel 151.73 0/1 99 19 11 8 0.42 intronic rs3832683 ARID5B AU NM_001244638 exon4 c.9763-80delA 0.352436 0.3601 Uncertain 10_63851054_C->T 10 63851054 63851054 C T snp 1191.77 0/1 99 124 73 51 0.41 exonic rs117757404 ARID5B AU nonsynonymous SNV NM_001244638 exon7 c.C1103T p.T368M 0.000998403 0.005 0.000077 0.0006 0.0072 1 T 1 N -1.015 T 0.001 T 0.0 T Pathogenic 10_63944176_A->C 10 63944176 63944176 A C snp 1729.77 1/1 99 68 0 68 1.0 intergenic rs3125730 ARID5B AU 0.9998 1 0.9997 1 Uncertain 10_63958112_T->C 10 63958112 63958112 T C snp 3438.77 1/1 99 127 0 127 1.0 exonic rs3125734 RTKN2 AU nonsynonymous SNV NM_145307 exon12 c.A1385G p.H462R 0.588858 0.8998 0.553668 0.6339 0.9200 0.16 T 0.005 P -1.056 T 0.001 T 0.001 T ID=CM128676;DIS=Rheumatoid arthritis, susceptibility to, association with;TAG=DP;PUB=23028356 DP Pathogenic 10_63977012_AAAAA->- 10 63977012 63977016 AAAAA - indel 2689.73 1/1 99 80 1 79 0.99 splicing rs148142088 RTKN2 AU NM_145307 exon4 c.19342+4_19342+8delAAAAA 0.772963 0.9226 0.5831 0.6577 Pathogenic 10_63977069_A->T 10 63977069 63977069 A T snp 705.77 1/1 54 21 0 21 1.0 intronic rs1432414 RTKN2 AU NM_145307 exon4 c.19342+61A>T 0.754193 0.8988 Uncertain 10_63978078_A->- 10 63978078 63978078 A - indel 518.73 1/1 56 21 0 21 1.0 intronic rs11355398 RTKN2 AU NM_145307 exon5 c.20394+18delA 0.736621 0.8978 0.7689 0.9217 Uncertain 10_63982984_A->G 10 63982984 63982984 A G snp 1001.77 1/1 72 33 0 33 1.0 intronic rs10740069 RTKN2 AU NM_145307 exon6 c.25330-12A>G 0.753994 0.8988 0.752116 0.7622 0.9243 Uncertain 10_63995983_C->T 10 63995983 63995983 C T snp 831.77 1/1 60 34 0 34 1.0 exonic rs3852448 RTKN2 AU synonymous SNV NM_145307 exon6 c.G528A p.V176V 0.906949 0.9881 0.887419 0.8879 0.9896 Uncertain 10_64000878_T->G 10 64000878 64000878 T G snp 1614.77 1/1 99 63 0 63 1.0 intronic rs1368158 RTKN2 AU NM_145307 exon9 c.43234-22T>G 0.751597 0.8879 0.753124 0.7676 0.9149 Uncertain 10_64001114_T->C 10 64001114 64001114 T C snp 50.74 1/1 6 2 0 2 1.0 intronic rs1368157 RTKN2 AU NM_145307 exon9 c.43288+160T>C 0.570687 0.8829 Uncertain 10_64005582_-->A 10 64005582 64005582 - A indel 199.8 1/1 18 6 0 6 1.0 intronic rs34205992 RTKN2 AU NM_145307 exon10 c.48091-175insA 0.576677 0.8829 Uncertain 10_64005711_C->T 10 64005711 64005711 C T snp 1533.77 1/1 99 58 0 58 1.0 intronic rs3815999 RTKN2 AU NM_145307 exon10 c.48091-46C>T 0.717851 0.8879 0.723001 0.7548 0.9148 Uncertain 10_64019037_-->TAAAT 10 64019037 64019037 - TAAAT indel 2704.73 1/1 99 34 0 34 1.0 intronic rs10675790 RTKN2 AU NM_145307 exon11 c.64717-3346insTAAAT 0.7498 0.8879 0.6718 0.9219 Uncertain 10_64028538_C->G 10 64028538 64028538 C G snp 176.9 1/1 15 5 0 5 1.0 UTR5 rs1864836 RTKN2 AU 0.535144 0.8829 Uncertain 10_64136751_G->C 10 64136751 64136751 G C snp 354.78 1/1 27 11 0 11 1.0 intergenic rs1873686 LOC283045 AU 0.967452 1 Uncertain 10_64148125_C->A 10 64148125 64148125 C A snp 4677.77 1/1 99 180 0 180 1.0 intergenic rs3852424 LOC283045 AU 0.940495 1 0.934261 0.9825 1 Uncertain 10_64148369_A->G 10 64148369 64148369 A G snp 251.8 1/1 21 7 0 7 1.0 intergenic rs2893897 LOC283045 AU 0.996006 1 0.995541 0.9989 1 Uncertain 10_64159333_G->T 10 64159333 64159333 G T snp 1806.77 0/1 99 176 89 87 0.49 intergenic rs3758490 LOC283045 AU 0.44389 0.6915 0.459788 0.5445 0.6967 0.77 T 1.000 P -0.935 T 0.034 T 0.053 T Uncertain 10_64219296_C->A 10 64219296 64219296 C A snp 138.77 0/1 99 12 7 5 0.42 intergenic rs11818163 LOC283045 AU 0.231629 0.1954 Uncertain 10_64239709_A->G 10 64239709 64239709 A G snp 1083.77 0/1 99 117 75 42 0.36 intergenic rs11819488 LOC283045 AU 0.0806709 0.1806 0.057162 Uncertain 10_64415184_A->G 10 64415184 64415184 A G snp 2689.77 0/1 99 233 120 113 0.48 exonic rs7076156 ZNF365 AU nonsynonymous SNV NM_199452 exon4 c.A184G p.T62A 0.871206 0.8968 0.805628 0.7939 0.9113 0 D 0.000 P -0.989 T 0.0 T 0.001 T CLINSIG=other;CLNDBN=Uric_acid_nephrolithiasis\x2c_susceptibility_to;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000002951.1;CLNDSDB=MedGen:OMIM;CLNDSDBID=C2700426:605990 ID=CM033482;DIS=Uric acid nephrolithiasis, association with;TAG=DP;PUB=12740763 DP Pathogenic 10_64415413_T->A 10 64415413 64415413 T A snp 597.77 0/1 99 44 20 24 0.55 intronic rs7094595 ZNF365 AU NM_199452 exon4 c.11706+22T>A 0.3125 0.6012 0.286560 0.3480 0.5989 Uncertain 10_64429757_A->T 10 64429757 64429757 A T snp 99.28 1/1 9 3 0 3 1.0 intronic rs9943383 ZNF365 AU NM_199451 exon8 c.294014-209A>T 0.760583 0.7351 Uncertain 10_64573771_C->T 10 64573771 64573771 C T snp 1720.77 1/1 99 65 0 65 1.0 exonic rs224083 EGR2 AR,AD synonymous SNV NM_000399 exon2 c.G627A p.P209P 0.986022 1 0.982162 0.9953 1 Uncertain 10_64914016_-->A 10 64914016 64914016 - A indel 3567.73 1/1 99 87 0 87 1.0 UTR3 rs35751397 NRBF2 AU 0.390974 0.3591 0.440811 0.4460 0.3503 Uncertain 10_64927823_C->G 10 64927823 64927823 C G snp 2760.77 1/1 99 107 0 107 1.0 exonic rs1935 JMJD1C AU nonsynonymous SNV NM_032776 exon26 c.G7605C p.E2535D 0.392173 0.3601 0.434819 0.4457 0.3422 0.14 T 1.000 P -0.910 T 0.355 T 0.057 T Pathogenic 10_64936361_G->A 10 64936361 64936361 G A snp 139.03 1/1 12 5 0 5 1.0 intronic rs10995455 JMJD1C AU NM_032776 exon3 c.8429+128G>A 0.204273 0.2887 Uncertain 10_64944317_T->A 10 64944317 64944317 T A snp 2029.77 1/1 99 75 0 75 1.0 intronic rs10740107 JMJD1C AU NM_032776 exon6 c.16563-50T>A 0.732827 0.6468 0.831011 0.7889 0.6316 Uncertain 10_64945364_G->A 10 64945364 64945364 G A snp 3930.77 1/1 99 149 0 149 1.0 exonic rs3211105 JMJD1C AU synonymous SNV NM_032776 exon20 c.C6789T p.D2263D 0.58107 0.6369 0.684909 0.7198 0.6201 1.000 P -1.067 T Likely benign 10_64953311_G->A 10 64953311 64953311 G A snp 192.9 1/1 15 9 0 9 1.0 intronic rs4747098 JMJD1C AU NM_032776 exon12 c.25428+79G>A 0.986821 1 Uncertain 10_64960536_G->A 10 64960536 64960536 G A snp 768.77 1/1 57 21 0 21 1.0 intronic rs10465990 JMJD1C AU NM_032776 exon16 c.32633+99G>A 0.508986 0.374 Uncertain 10_64967445_A->T 10 64967445 64967445 A T snp 8110.77 1/1 99 250 0 250 1.0 exonic rs1904294 JMJD1C AU synonymous SNV NM_032776 exon10 c.T3984A p.R1328R 0.986821 1 0.983061 0.9954 1 1.000 P -1.026 T Likely benign 10_64968251_T->C 10 64968251 64968251 T C snp 3305.77 0/1 99 250 111 139 0.56 exonic rs149833441 JMJD1C AU nonsynonymous SNV NM_032776 exon10 c.A3178G p.K1060E 0.00339457 0.0169 0.0013 0.0180 0.03 T 1.000 D -0.805 T 0.872 T 0.345 P ID=CM147705;DIS=Intracranial germ cell tumour, increased risk;TAG=DM?;PUB=24896186 DM? Pathogenic 10_64974537_A->T 10 64974537 64974537 A T snp 2848.77 1/1 99 99 0 99 1.0 exonic rs10761725 JMJD1C AU nonsynonymous SNV NM_032776 exon8 c.T1390A p.S464T 0.511382 0.377 0.664622 0.6728 0.3609 0.28 T 0.0 P -1.088 T 0.116 T 0.036 T Pathogenic 10_65139945_T->C 10 65139945 65139945 T C snp 706.77 1/1 54 21 0 21 1.0 intronic rs7477425 JMJD1C AU NM_032776 exon25 c.212273-132T>C 0.98742 1 0.9950 1 Uncertain 10_65225244_G->C 10 65225244 65225244 G C snp 1320.77 1/1 96 41 0 41 1.0 ncRNA_exonic rs1061259 JMJD1C-AS1 AU 0.588259 0.7024 0.439934 0.7422 0.6982 Uncertain 10_65225245_A->G 10 65225245 65225245 A G snp 1399.77 1/1 99 42 0 42 1.0 ncRNA_exonic rs10761770 JMJD1C-AS1 AU 0.959665 1 0.955100 0.9886 1 Uncertain 10_65281135_T->G 10 65281135 65281135 T G snp 224.84 1/1 18 6 0 6 1.0 UTR5 rs373429403 REEP3 AU 0.999601 1 Uncertain 10_65281137_T->C 10 65281137 65281137 T C snp 224.84 1/1 18 6 0 6 1.0 UTR5 rs377532429 REEP3 AU 1 1 Uncertain 10_65383515_-->TGTG 10 65383515 65383515 - TGTG indel 769.73 1/1 42 17 0 17 1.0 UTR3 rs71463535 REEP3 AU Uncertain 10_65928826_T->C 10 65928826 65928826 T C snp 4817.77 1/1 99 175 0 175 1.0 intergenic rs10740151 REEP3 AU 0.997404 1 Uncertain 10_67726164_A->T 10 67726164 67726164 A T snp 93.28 1/1 9 3 0 3 1.0 intronic rs2276158 CTNNA3 AD NM_013266 exon2 c.46282-205A>T 0.115216 0.2044 Uncertain 10_67726514_A->C 10 67726514 67726514 A C snp 1903.77 1/1 99 64 0 64 1.0 intronic rs2105702 CTNNA3 AD NM_013266 exon2 c.46417+10A>C 0.352636 0.3899 0.309780 0.3443 0.4055 Uncertain 10_68040240_G->T 10 68040240 68040240 G T snp 798.77 0/1 99 72 36 36 0.5 exonic rs10997034 CTNNA3 AD synonymous SNV NM_013266 exon13 c.C1872A p.V624V 0.0690895 0.0456 0.048055 0.0380 0.0490 Uncertain 10_68040325_C->T 10 68040325 68040325 C T snp 1901.77 1/1 99 68 0 68 1.0 exonic rs4548513 CTNNA3 AD nonsynonymous SNV NM_013266 exon13 c.G1787A p.S596N 0.485024 0.4187 0.466554 0.4120 0.4324 1 T 0.996 P -0.935 T 0.0 T 0.001 T ID=CM074765;DIS=Alzheimer disease, increased risk, association with;TAG=DP;PUB=17209133 DP Pathogenic 10_68535082_-->T 10 68535082 68535082 - T indel 3025.73 1/1 99 95 0 95 1.0 intronic rs397965995 CTNNA3 AD NM_013266 exon11 c.855114-119insT 0.861621 0.994 Uncertain 10_68685929_G->C 10 68685929 68685929 G C snp 4240.77 1/1 99 142 0 142 1.0 ncRNA_intronic rs7902006 LOC101928961 AU 0.904153 0.9931 0.9298 1 Uncertain 10_69106644_C->T 10 69106644 69106644 C T snp 2103.77 0/1 99 165 88 77 0.47 intronic rs16924402 CTNNA3 AD NM_001291133 exon3 c.42970+127016C>T 0.153155 0.254 Uncertain 10_69281495_C->G 10 69281495 69281495 C G snp 1493.77 1/1 99 42 0 42 1.0 intronic rs10509289 CTNNA3 AD NM_001291133 exon4 c.344941-104C>G 0.355032 0.6796 Uncertain 10_69281585_A->C 10 69281585 69281585 A C snp 2240.77 0/1 99 179 89 90 0.5 intronic rs10997691 CTNNA3 AD NM_001291133 exon4 c.344941-14A>C 0.187101 0.2996 0.102722 0.1641 0.2932 Uncertain 10_69366602_T->C 10 69366602 69366602 T C snp 1323.77 0/1 99 146 87 59 0.4 intronic rs3750863 CTNNA3 AD NM_001291133 exon6 c.429956-12T>C 0.529952 0.5149 0.456174 0.3811 0.5341 Uncertain 10_69571336_G->A 10 69571336 69571336 G A snp 2853.77 0/1 99 248 121 127 0.51 exonic rs3740049 DNAJC12 AU synonymous SNV NM_021800 exon3 c.C243T p.S81S 0.138379 0.3155 0.075965 0.1258 0.3031 Uncertain 10_69597786_G->A 10 69597786 69597786 G A snp 1345.77 0/1 99 148 93 55 0.37 UTR5 rs2273771 DNAJC12 AU 0.130192 0.3115 0.053146 0.1077 0.3025 Uncertain 10_69597824_C->T 10 69597824 69597824 C T snp 1859.77 0/1 99 139 62 77 0.55 UTR5 rs2273772 DNAJC12 AU 0.117013 0.4028 0.004599 Uncertain 10_69647332_G->T 10 69647332 69647332 G T snp 466.77 1/1 36 14 0 14 1.0 intronic rs932657 SIRT1 AU NM_012238 exon2 c.2812+41G>T 0.990216 1 0.9972 1 Uncertain 10_69666143_T->- 10 69666143 69666143 T - indel 123.73 0/1 35 11 2 9 0.82 intronic rs34932755 SIRT1 AU NM_001142498 exon4 c.15291-403delT 0.125599 0.4008 Uncertain 10_69666598_T->C 10 69666598 69666598 T C snp 923.77 0/1 99 89 49 40 0.45 exonic rs2273773 SIRT1 AU synonymous SNV NM_012238 exon5 c.T994C p.L332L 0.127196 0.3115 0.050592 0.1047 0.3015 Uncertain 10_69675935_G->A 10 69675935 69675935 G A snp 469.77 0/1 99 28 12 16 0.57 intronic rs74790878 SIRT1 AU NM_001142498 exon8 c.24766-86G>A 0.115415 0.3998 Uncertain 10_69692559_T->A 10 69692559 69692559 T A snp 1176.77 0/1 99 95 47 48 0.51 intronic rs187796914 HERC4 AU NM_001278185 exon3 c.9850+22T>A 8.421e-06 0 Uncertain 10_69719074_C->T 10 69719074 69719074 C T snp 96.28 1/1 9 3 0 3 1.0 intronic rs7907843 HERC4 AU NM_001278185 exon8 c.36206+181C>T 0.961661 1 Uncertain 10_69750213_-->A 10 69750213 69750213 - A indel 62.5 0/1 3 17 1 16 0.94 intronic rs11422655 HERC4 AU NM_001278185 exon11 c.67470+56insA 0.672524 0.6429 Uncertain 10_69750789_A->- 10 69750789 69750789 A - indel 581.73 1/1 60 37 2 35 0.95 intronic rs398013929 HERC4 AU NM_001278185 exon12 c.68085+17delA 0.988219 0.9901 0.9861 0.9894 Uncertain 10_69755112_-->CTAT 10 69755112 69755112 - CTAT indel 783.73 1/1 36 15 0 15 1.0 intronic rs2308195 HERC4 AU NM_001278185 exon15 c.69752+2673insCTAT Uncertain 10_69773841_G->A 10 69773841 69773841 G A snp 4312.77 1/1 99 162 0 162 1.0 exonic rs866255 HERC4 AU synonymous SNV NM_001278186 exon7 c.C246T p.S82S 0.519369 0.8413 0.347839 0.4282 0.8490 Uncertain 10_69785435_-->A 10 69785435 69785435 - A indel 2239.73 0/1 99 211 97 114 0.54 splicing rs3834396 HERC4 AU NM_001278185 exon17 c.102746+2insA 0.196486 0.3889 0.103674 0.1343 0.4031 ID=COSM327972;OCCURENCE=1(pancreas) Pathogenic 10_69793644_C->T 10 69793644 69793644 C T snp 625.77 0/1 99 36 15 21 0.58 intronic rs3740055 HERC4 AU NM_001278185 exon19 c.111034-77C>T 0.148363 0.3869 Uncertain 10_69902549_T->C 10 69902549 69902549 T C snp 170.77 0/1 99 15 8 7 0.47 intronic rs3814180 MYPN AD NM_032578 exon3 c.21501-147T>C 0.496605 0.5476 Uncertain 10_69905300_G->A 10 69905300 69905300 G A snp 608.77 0/1 99 53 27 26 0.49 intronic rs2817760 MYPN AD NM_032578 exon4 c.24088+17G>A 0.295927 0.1607 0.267646 0.1562 0.1788 CLINSIG=non-pathogenic;CLNDBN=not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000127072.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Uncertain 10_69905415_C->T 10 69905415 69905415 C T snp 82.77 0/1 99 7 3 4 0.57 intronic rs2635993 MYPN AD NM_032578 exon4 c.24088+132C>T 0.295927 0.1607 Uncertain 10_69908241_G->A 10 69908241 69908241 G A snp 715.77 0/1 99 92 60 32 0.35 intronic rs2200897 MYPN AD NM_032578 exon5 c.27029+17G>A 0.121605 0.1577 0.084346 0.0928 0.1783 CLINSIG=non-pathogenic;CLNDBN=not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000127074.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Uncertain 10_69926097_T->C 10 69926097 69926097 T C snp 1426.77 0/1 99 100 44 56 0.56 exonic rs2673794 MYPN AD synonymous SNV NM_032578 exon10 c.T1647C p.S549S 0.482628 0.3125 0.578656 0.6227 0.2886 CLINSIG=non-pathogenic;CLNDBN=not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000024488.2;CLNDSDB=MedGen;CLNDSDBID=CN221809 Uncertain 10_69926319_C->A 10 69926319 69926319 C A snp 2210.77 0/1 99 195 97 98 0.5 exonic rs61854624 MYPN AD synonymous SNV NM_032578 exon10 c.C1869A p.T623T 0.116613 0.0962 0.126096 0.1565 0.0863 CLINSIG=non-pathogenic;CLNDBN=not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000024496.2;CLNDSDB=MedGen;CLNDSDBID=CN221809 Uncertain 10_69926325_C->T 10 69926325 69926325 C T snp 2101.77 0/1 99 190 96 94 0.49 exonic rs2673793 MYPN AD synonymous SNV NM_032578 exon10 c.C1875T p.P625P 0.157748 0.0962 0.172305 0.1809 0.0864 CLINSIG=non-pathogenic;CLNDBN=not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000024489.2;CLNDSDB=MedGen;CLNDSDBID=CN221809 Uncertain 10_69934467_A->G 10 69934467 69934467 A G snp 589.77 0/1 99 50 29 21 0.42 intronic rs3814183 MYPN AD NM_032578 exon11 c.53218+54A>G 0.817093 0.8948 Uncertain 10_69934535_G->A 10 69934535 69934535 G A snp 62.77 0/1 91 12 8 4 0.33 intronic rs7917519 MYPN AD NM_032578 exon11 c.53218+122G>A 0.802716 0.8948 Uncertain 10_69935059_A->G 10 69935059 69935059 A G snp 1724.77 0/1 99 139 69 70 0.5 intronic rs7097776 MYPN AD NM_032578 exon12 c.53884-20A>G 0.547524 0.3294 0.648470 0.6520 0.2973 Uncertain 10_69935235_T->C 10 69935235 69935235 T C snp 4445.77 1/1 99 158 0 158 1.0 intronic rs6480306 MYPN AD NM_032578 exon12 c.54023+17T>C 0.982428 1 0.982162 0.9938 0.9999 CLINSIG=non-pathogenic;CLNDBN=not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000127077.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Uncertain 10_69948844_T->C 10 69948844 69948844 T C snp 2735.77 1/1 99 99 0 99 1.0 exonic rs10733838 MYPN AD synonymous SNV NM_032578 exon13 c.T2886C p.V962V 0.984625 1 0.985468 0.9956 1 CLINSIG=non-pathogenic,untested;CLNDBN=not_provided,not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter,no_assertion_provided;CLNACC=RCV000127079.1,RCV000024492.1;CLNDSDB=MedGen,MedGen;CLNDSDBID=CN221809,CN221809 Uncertain 10_69954301_C->T 10 69954301 69954301 C T snp 428.77 0/1 99 58 40 18 0.31 intronic rs11815154 MYPN AD NM_032578 exon14 c.73074+32C>T 0.117812 0.1181 0.118868 0.1513 0.0965 Uncertain 10_69955140_T->A 10 69955140 69955140 T A snp 1274.77 0/1 99 94 41 53 0.56 intronic rs7069569 MYPN AD NM_032578 exon15 c.74011-66T>A 0.48143 0.3591 Uncertain 10_69956999_C->A 10 69956999 69956999 C A snp 71.77 0/1 99 9 6 3 0.33 intronic rs7477844 MYPN AD NM_032578 exon16 c.75913-109C>A 0.130192 0.119 Uncertain 10_69959097_G->T 10 69959097 69959097 G T snp 691.77 0/1 99 39 14 25 0.64 intronic rs7079549 MYPN AD NM_032578 exon17 c.77929-27G>T 0.538139 0.3581 0.649239 0.6729 0.3260 Uncertain 10_69961470_A->G 10 69961470 69961470 A G snp 86.78 0/1 27 5 1 4 0.8 intronic rs7913133 MYPN AD NM_032578 exon18 c.80390-115A>G 0.507987 0.3581 Uncertain 10_69961501_A->G 10 69961501 69961501 A G snp 271.78 1/1 24 10 0 10 1.0 intronic rs7913146 MYPN AD NM_032578 exon18 c.80390-84A>G 0.942692 1 Uncertain 10_69966392_T->G 10 69966392 69966392 T G snp 182.9 1/1 15 6 0 6 1.0 intronic rs3814185 MYPN AD NM_032578 exon19 c.85331-134T>G 0.982228 1 Uncertain 10_70043916_G->A 10 70043916 70043916 G A snp 3318.77 1/1 99 116 0 116 1.0 UTR3 rs736535 PBLD AU 0.298123 0.2946 0.232585 0.2655 0.3322 Uncertain 10_70044031_T->C 10 70044031 70044031 T C snp 3532.77 1/1 99 128 0 128 1.0 exonic rs4142048 PBLD AU nonsynonymous SNV NM_022129 exon10 c.A770G p.H257R 0.299321 0.2946 0.234507 0.2660 0.3321 0.59 T 0.0 P -0.943 T 0.0 T 0.0 T Pathogenic 10_70044937_C->A 10 70044937 70044937 C A snp 328.78 1/1 27 11 0 11 1.0 UTR3 rs2305083 PBLD AU 0.298123 0.2946 Uncertain 10_70045201_C->A 10 70045201 70045201 C A snp 3718.77 1/1 99 129 0 129 1.0 intronic rs7909365 PBLD AU NM_022129 exon2 c.1234+34C>A 0.967452 1 0.966323 0.9903 1 Uncertain 10_70048118_A->G 10 70048118 70048118 A G snp 103.77 0/1 99 19 13 6 0.32 intronic rs78904265 PBLD AU NM_022129 exon3 c.4306-121A>G 0.0694888 0.1528 Uncertain 10_70051808_-->A 10 70051808 70051808 - A indel 1063.73 0/1 99 73 27 46 0.63 intronic rs11387118 PBLD AU NM_022129 exon5 c.7863+12insA 0.140775 0.1399 0.1646 0.1497 Uncertain 10_70051810_A->G 10 70051810 70051810 A G snp 645.77 0/1 99 75 47 28 0.37 intronic rs3835100 PBLD AU NM_022129 exon5 c.7863+14A>G 0.76258 0.8591 0.821775 0.8066 0.8499 Uncertain 10_70051928_A->G 10 70051928 70051928 A G snp 1469.77 0/1 99 148 83 65 0.44 exonic rs10823171 PBLD AU synonymous SNV NM_001033083 exon5 c.T351C p.D117D 0.739018 0.8591 0.749039 0.7714 0.8497 Uncertain 10_70056600_C->T 10 70056600 70056600 C T snp 489.77 0/1 99 37 18 19 0.51 intronic rs2394470 PBLD AU NM_022129 exon8 c.12709-42C>T 0.761781 0.8571 0.792480 0.8075 0.8490 Uncertain 10_70056619_-->A 10 70056619 70056619 - A indel 643.73 0/1 99 70 33 37 0.53 intronic rs397973433 PBLD AU NM_022129 exon8 c.12709-23insA 0.0925 0.2069 Uncertain 10_70105560_G->A 10 70105560 70105560 G A snp 2023.77 0/1 99 229 140 89 0.39 exonic rs1162753 RUFY2 AU synonymous SNV NM_017987 exon18 c.C1891T p.L631L 0.803115 0.872 0.838040 0.8158 0.8487 Uncertain 10_70123243_G->A 10 70123243 70123243 G A snp 228.77 0/1 99 13 6 7 0.54 intronic rs10823183 RUFY2 AU NM_017987 exon4 c.17822-103G>A 0.297125 0.125 Uncertain 10_70141328_G->A 10 70141328 70141328 G A snp 93.28 1/1 9 3 0 3 1.0 intronic rs10823186 RUFY2 AU NM_017987 exon8 c.35632+172G>A 0.196286 0.125 Uncertain 10_70143371_T->C 10 70143371 70143371 T C snp 42.77 0/1 31 3 1 2 0.67 intronic rs10998103 RUFY2 AU NM_017987 exon9 c.38030-183T>C 0.201478 0.125 Uncertain 10_70143774_C->T 10 70143774 70143774 C T snp 1022.77 0/1 99 86 48 38 0.44 intronic rs7899885 RUFY2 AU NM_017987 exon10 c.38283-33C>T 0.663938 0.8611 0.696429 0.7463 0.8466 Uncertain 10_70153014_-->A 10 70153014 70153014 - A indel 184.73 0/1 68 19 3 16 0.84 intronic rs11432212 RUFY2 AU NM_017987 exon12 c.47436+54insA 0.296725 0.125 0.257418 Uncertain 10_70166913_T->G 10 70166913 70166913 T G snp 588.77 1/1 42 25 0 25 1.0 UTR5 rs59831114 RUFY2 AU 0.979233 0.9861 0.971567 0.9645 1 Uncertain 10_70167004_T->C 10 70167004 70167004 T C snp 274.77 0/1 46 15 2 13 0.87 UTR5 rs7098448 RUFY2 AU 0.183107 0.125 Uncertain 10_70167044_C->T 10 70167044 70167044 C T snp 167.78 0/1 24 10 1 9 0.9 UTR5 rs138151791 RUFY2 AU 0.109425 0.125 Uncertain 10_70174707_T->A 10 70174707 70174707 T A snp 579.77 0/1 99 47 22 25 0.53 UTR3 rs1801041 DNA2 AR,AD 0.246406 0.2321 Uncertain 10_70174885_A->G 10 70174885 70174885 A G snp 346.77 0/1 99 20 8 12 0.6 intronic rs17460571 DNA2 AR,AD NM_001080449 exon1 c.67+23A>G 0.130791 0.125 0.071319 0.1736 0.2221 Uncertain 10_70179713_C->G 10 70179713 70179713 C G snp 1894.77 0/1 99 185 100 85 0.46 intronic rs7912227 DNA2 AR,AD NM_001080449 exon4 c.4854+64C>G 0.279752 0.125 Uncertain 10_70179746_T->G 10 70179746 70179746 T G snp 1454.77 0/1 99 118 58 60 0.51 intronic rs7897488 DNA2 AR,AD NM_001080449 exon4 c.4854+97T>G 0.197085 0.125 Uncertain 10_70190155_A->G 10 70190155 70190155 A G snp 322.77 0/1 99 20 10 10 0.5 intronic rs12221039 DNA2 AR,AD NM_001080449 exon8 c.15397-37A>G 0.130791 0.125 0.073144 0.1732 0.2012 Uncertain 10_70225504_G->T 10 70225504 70225504 G T snp 2079.77 0/1 99 218 127 91 0.42 exonic rs3758626 DNA2 AR,AD synonymous SNV NM_001080449 exon4 c.C507A p.A169A 0.366414 0.379 0.275824 0.2867 0.4041 Uncertain 10_70227964_C->T 10 70227964 70227964 C T snp 1386.77 0/1 99 127 66 61 0.48 exonic rs10998205 DNA2 AR,AD synonymous SNV NM_001080449 exon3 c.G357A p.L119L 0.139177 0.127 0.070071 0.1311 0.1499 Uncertain 10_70230475_G->C 10 70230475 70230475 G C snp 1160.77 0/1 99 83 42 41 0.49 intronic rs10509302 DNA2 AR,AD NM_001080449 exon20 c.55125+555G>C 0.167732 0.127 Uncertain 10_70231701_A->G 10 70231701 70231701 A G snp 3178.77 0/1 99 250 115 135 0.54 UTR5 rs1535539 DNA2 AR,AD 0.253195 0.127 0.205102 0.1945 0.1511 0.000 P -1.144 T Uncertain 10_70252823_A->- 10 70252823 70252823 A - indel 83.73 0/1 99 20 11 9 0.45 intronic rs11288507 SLC25A16 AU NM_152707 exon4 c.9700-65delA 0.432508 0.3631 Uncertain 10_70263579_C->T 10 70263579 70263579 C T snp 231.77 0/1 97 11 3 8 0.73 intronic rs10823215 SLC25A16 AU NM_152707 exon6 c.20264+127C>T 0.195088 0.126 Uncertain 10_70266523_C->T 10 70266523 70266523 C T snp 71.77 0/1 99 6 3 3 0.5 intronic rs2275715 SLC25A16 AU NM_152707 exon7 c.23287+48C>T 0.289337 0.1458 0.231598 0.2465 0.1690 Uncertain 10_70266546_G->T 10 70266546 70266546 G T snp 56.74 1/1 6 2 0 2 1.0 intronic rs2275716 SLC25A16 AU NM_152707 exon7 c.23287+71G>T 0.686102 0.8542 Uncertain 10_70276728_G->A 10 70276728 70276728 G A snp 864.77 1/1 63 25 0 25 1.0 intronic rs2664412 SLC25A16 AU NM_152707 exon8 c.33412+128G>A 0.997404 1 Uncertain 10_70332066_C->T 10 70332066 70332066 C T snp 81.77 0/1 99 21 17 4 0.19 UTR5 rs3814177 TET1 AU 0.483626 0.5645 0.478909 0.5459 0.5781 Uncertain 10_70332672_T->A 10 70332672 70332672 T A snp 2761.77 0/1 99 243 126 117 0.48 exonic rs12773594 TET1 AU nonsynonymous SNV NM_030625 exon2 c.T577A p.S193T 0.171725 0.1726 0.137244 0.1788 0.1740 0.31 T 0.000 P -0.922 T 0.808 T 0.107 P Pathogenic 10_70332862_C->T 10 70332862 70332862 C T snp 1977.77 0/1 99 173 94 79 0.46 exonic rs12221107 TET1 AU nonsynonymous SNV NM_030625 exon2 c.C767T p.A256V 0.109425 0.1498 0.056666 0.1122 0.1547 0.08 T 0.0 P -1.002 T 0.022 T 0.011 T Pathogenic 10_70392319_G->A 10 70392319 70392319 G A snp 352.78 1/1 27 11 0 11 1.0 intronic rs10733844 TET1 AU NM_030625 exon4 c.72359-12135G>A 0.890375 0.9732 Uncertain 10_70405855_A->G 10 70405855 70405855 A G snp 4233.77 1/1 99 147 0 147 1.0 exonic rs3998860 TET1 AU nonsynonymous SNV NM_030625 exon4 c.A3369G p.I1123M 0.693291 0.8502 0.721206 0.7737 0.8382 0.03 T 0.0 P -0.998 T 0.07 T 0.01 T Pathogenic 10_70442869_A->- 10 70442869 70442869 A - indel 394.73 1/1 39 18 0 18 1.0 intronic rs11284778 TET1 AU NM_030625 exon10 c.110635+139delA 0.7498 0.8601 Uncertain 10_70481547_C->T 10 70481547 70481547 C T snp 1227.77 1/1 90 35 0 35 1.0 intronic rs1616158 CCAR1 AU 0.644768 0.6538 Uncertain 10_70497482_A->G 10 70497482 70497482 A G snp 424.77 1/1 33 13 0 13 1.0 intronic rs1162961 CCAR1 AU NM_018237 exon4 c.15340-119A>G 0.861222 0.7401 Uncertain 10_70497799_C->T 10 70497799 70497799 C T snp 180.9 1/1 15 5 0 5 1.0 intronic rs1149679 CCAR1 AU NM_018237 exon4 c.15385+153C>T 0.854832 0.7401 Uncertain 10_70502288_G->A 10 70502288 70502288 G A snp 4932.77 1/1 99 173 0 173 1.0 exonic rs1300253 CCAR1 AU synonymous SNV NM_001282959 exon5 c.G435A p.T145T 0.861422 0.7401 0.881132 0.8660 0.7390 Uncertain 10_70502426_T->C 10 70502426 70502426 T C snp 476.77 1/1 36 13 0 13 1.0 intronic rs1300252 CCAR1 AU NM_018237 exon6 c.20065+100T>C 0.960663 0.9881 Uncertain 10_70520721_G->C 10 70520721 70520721 G C snp 35.77 0/1 64 19 11 8 0.42 intronic rs565004621 CCAR1 AU NM_018237 exon16 c.38502-42G>C 0.0086 0.0029 Uncertain 10_70520724_A->C 10 70520724 70520724 A C snp 139.77 0/1 90 19 10 9 0.47 intronic CCAR1 AU NM_018237 exon16 c.38502-39A>C 0.0071 0.0029 Uncertain 10_70525591_G->A 10 70525591 70525591 G A snp 1752.77 1/1 99 53 0 53 1.0 intronic rs1149688 CCAR1 AU NM_018237 exon17 c.43383-53G>A 0.6252 0.6538 Uncertain 10_70531217_C->T 10 70531217 70531217 C T snp 1916.77 1/1 99 73 0 73 1.0 intronic rs10823258 CCAR1 AU NM_018237 exon18 c.48941+15C>T 0.623403 0.6538 0.651970 0.6876 0.6329 Uncertain 10_70534744_A->C 10 70534744 70534744 A C snp 613.77 1/1 45 25 0 25 1.0 intronic rs1782323 CCAR1 AU NM_018237 exon19 c.50595+1888A>C 0.854832 0.7401 0.8610 0.8106 0 D 0.0 P -0.998 T Uncertain 10_70641860_T->C 10 70641860 70641860 T C snp 3879.77 1/1 99 141 2 139 0.99 exonic rs1341667 STOX1 AU nonsynonymous SNV NM_152709 exon2 c.T457C p.Y153H 0.61242 0.9008 0.571670 0.6231 0.9041 0.29 T 0.924 P -0.992 T 0.687 T 0.231 P CLINSIG=other;CLNDBN=Preeclampsia/eclampsia_4;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000001789.1;CLNDSDB=MedGen:OMIM:Orphanet;CLNDSDBID=C1836255:609404:ORPHA275555 ID=CM057373;DIS=Preeclampsia;TAG=DM;PUB=15806103 DM Pathogenic 10_70652197_C->T 10 70652197 70652197 C T snp 136.03 1/1 12 4 0 4 1.0 intronic rs10740310 STOX1 AU NM_001130160 exon3 c.64964-147C>T 0.953075 0.9871 Uncertain 10_70673430_G->A 10 70673430 70673430 G A snp 916.77 1/1 69 28 1 27 0.96 intronic rs5030891 DDX50 AU NM_024045 exon6 c.12192+98G>A 0.64976 0.9038 Uncertain 10_70695696_A->T 10 70695696 70695696 A T snp 90.28 1/1 9 3 0 3 1.0 intronic rs5030892 DDX50 AU NM_024045 exon11 c.34621-65A>T 0.615016 0.9038 Uncertain 10_70696009_T->C 10 70696009 70696009 T C snp 553.77 1/1 42 18 0 18 1.0 intronic rs7084726 DDX50 AU NM_024045 exon11 c.34695+174T>C 0.976038 1 Uncertain 10_70696713_C->T 10 70696713 70696713 C T snp 387.77 1/1 30 10 0 10 1.0 exonic rs5030895 DDX50 AU synonymous SNV NM_024045 exon12 c.C1617T p.Y539Y 0.953674 0.9871 0.929187 0.9321 0.9928 Uncertain 10_70696908_G->T 10 70696908 70696908 G T snp 1626.77 1/1 99 61 0 61 1.0 intronic rs1539166 DDX50 AU NM_024045 exon12 c.35711+57G>T 0.953674 0.9871 Uncertain 10_70700944_A->G 10 70700944 70700944 A G snp 2034.77 1/1 99 76 0 76 1.0 exonic rs5030900 DDX50 AU synonymous SNV NM_024045 exon13 c.A1884G p.G628G 0.65595 0.9038 0.612410 0.6370 0.9058 Uncertain 10_70716106_A->G 10 70716106 70716106 A G snp 4791.77 1/1 99 162 0 162 1.0 intronic rs5030896 DDX21 AU NM_004728 exon1 c.87+38A>G 0.953674 0.9871 0.929648 0.9325 0.9927 Uncertain 10_70722939_T->C 10 70722939 70722939 T C snp 747.77 1/1 57 22 0 22 1.0 intronic rs5030897 DDX21 AU NM_004728 exon4 c.7065-107T>C 0.653754 0.9067 Uncertain 10_70723858_A->- 10 70723858 70723858 A - indel 91.73 0/1 99 30 16 14 0.47 intronic rs750726882 DDX21 AU NM_004728 exon4 c.7244+633delA 0.0145 0 Uncertain 10_70724095_G->A 10 70724095 70724095 G A snp 332.77 0/1 99 27 15 12 0.44 intronic rs375058923 DDX21 AU NM_004728 exon4 c.7244+870G>A 0.000399361 0.002 Uncertain 10_70734599_A->T 10 70734599 70734599 A T snp 1384.77 1/1 99 48 1 47 0.98 intronic rs5030902 DDX21 AU NM_004728 exon11 c.18518+100A>T Uncertain 10_70742192_T->G 10 70742192 70742192 T G snp 179.9 1/1 15 6 0 6 1.0 intronic rs2251911 DDX21 AU NM_004728 exon15 c.26317-106T>G 0.653355 0.9067 Uncertain 10_70748784_G->A 10 70748784 70748784 G A snp 6190.77 1/1 99 208 0 208 1.0 exonic rs2255607 KIAA1279 AU nonsynonymous SNV NM_015634 exon1 c.G196A p.G66S 0.353834 0.3562 0.435385 0.4137 0.3857 0.75 T 0.0 P -0.927 T 0.0 T 0.001 T CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000146132.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 10_70748790_G->C 10 70748790 70748790 G C snp 3014.77 0/1 99 211 98 113 0.54 exonic rs201068859 KIAA1279 AU nonsynonymous SNV NM_015634 exon1 c.G202C p.G68R 0.000399361 0.002 0.0005 0.0065 0.53 T 0.999 N -1.038 T 0.04 T 0.034 T Pathogenic 10_70768804_T->G 10 70768804 70768804 T G snp 106.77 0/1 99 13 8 5 0.38 intronic rs2491016 KIAA1279 AU NM_015634 exon5 c.20093+123T>G 0.0395367 0.0139 Uncertain 10_70856852_G->A 10 70856852 70856852 G A snp 503.77 0/1 99 49 25 24 0.49 exonic rs2229498 SRGN AU nonsynonymous SNV NM_002727 exon2 c.G92A p.R31Q 0.589657 0.503 0.700446 0.7510 0.5481 0.94 T 0.0 P -0.976 T 0.12 T 0.035 T Pathogenic 10_70946101_-->A 10 70946101 70946101 - A indel 286.73 1/1 33 12 0 12 1.0 intronic rs397701290 SUPV3L1 AU NM_003171 exon3 c.6151-97insA Uncertain 10_70962381_C->G 10 70962381 70962381 C G snp 2769.77 1/1 99 86 0 86 1.0 intronic rs2279928 SUPV3L1 AU NM_001301683 exon13 c.16033+106C>G 0.390775 0.3849 Uncertain 10_70992413_G->A 10 70992413 70992413 G A snp 301.78 1/1 24 8 0 8 1.0 intronic rs874557 HKDC1 AU NM_025130 exon3 c.12328-106G>A 0.535543 0.7361 ID=CR151621;DIS=Reduced promoter activity;TAG=FP;PUB=25648650 FP Uncertain 10_70992664_C->T 10 70992664 70992664 C T snp 5092.77 1/1 99 172 1 171 0.99 exonic rs874556 HKDC1 AU nonsynonymous SNV NM_025130 exon3 c.C371T p.T124I 0.533946 0.7361 0.453483 0.4645 0.7715 0.13 T 0.0 P -0.934 T 0.0 T 0.001 T Pathogenic 10_70992912_A->T 10 70992912 70992912 A T snp 3745.77 1/1 99 137 0 137 1.0 intronic rs5030970 HKDC1 AU NM_025130 exon4 c.12698+23A>T 0.533946 0.7361 0.452245 0.4646 0.7720 Uncertain 10_70992949_T->A 10 70992949 70992949 T A snp 2482.77 1/1 99 77 0 77 1.0 intronic rs5030971 HKDC1 AU NM_025130 exon4 c.12698+60T>A 0.533946 0.7361 Uncertain 10_70992970_G->A 10 70992970 70992970 G A snp 1638.77 1/1 99 47 0 47 1.0 intronic rs5030972 HKDC1 AU NM_025130 exon4 c.12698+81G>A 0.532947 0.7361 Uncertain 10_71010026_T->C 10 71010026 71010026 T C snp 751.77 1/1 54 26 0 26 1.0 intronic rs4745978 HKDC1 AU NM_025130 exon11 c.29854-19T>C 0.988618 0.995 0.993388 0.9952 0.9966 Uncertain 10_71016947_C->G 10 71016947 71016947 C G snp 1455.77 0/1 99 126 71 55 0.44 intronic rs2279930 HKDC1 AU NM_025130 exon13 c.36696+60C>G 0.340655 0.5575 Uncertain 10_71018660_T->C 10 71018660 71018660 T C snp 1165.77 1/1 84 43 0 43 1.0 exonic rs1111335 HKDC1 AU nonsynonymous SNV NM_025130 exon15 c.T2161C p.W721R 0.990016 0.995 0.993541 0.9966 0.9966 1 T 0.000 P -0.920 T 0.0 T 0.0 T Pathogenic 10_71025217_T->C 10 71025217 71025217 T C snp 237.77 0/1 84 11 4 7 0.64 intronic rs117451730 HKDC1 AU NM_025130 exon17 c.45149-123T>C 0.00698882 0.0337 Uncertain 10_71026510_C->A 10 71026510 71026510 C A snp 2035.77 0/1 99 174 87 87 0.5 exonic rs906219 HKDC1 AU nonsynonymous SNV NM_025130 exon18 c.C2751A p.N917K 0.336262 0.5942 0.286483 0.3412 0.5304 0.02 T 0.000 P -0.987 T 0.0 T 0.0 T Pathogenic 10_71027231_G->C 10 71027231 71027231 G C snp 452.77 0/1 99 31 15 16 0.52 UTR3 rs2611 HKDC1 AU 0.412141 0.3224 0.4595 0.2788 0.02 T 0.000 P -0.928 T Uncertain 10_71052083_C->T 10 71052083 71052083 C T snp 644.77 0/1 99 51 24 27 0.53 intergenic rs4746836 HKDC1 AU 0.430312 0.6597 0.5033 0.6894 1 T 0.0 P -0.971 T 0.001 T 0.001 T Uncertain 10_71055232_T->C 10 71055232 71055232 T C snp 32.77 0/1 61 6 3 3 0.5 intergenic rs2894081 HKDC1 AU 0.66274 0.8304 Uncertain 10_71055459_T->C 10 71055459 71055459 T C snp 530.77 0/1 99 67 41 26 0.39 intergenic rs4746837 HKDC1 AU 0.704473 0.8294 0.685760 0.7119 0.8372 Uncertain 10_71060418_C->A 10 71060418 71060418 C A snp 37.77 0/1 66 6 4 2 0.33 intergenic rs2002905 HKDC1 AU 0.321685 0.6131 Uncertain 10_71060610_A->G 10 71060610 71060610 A G snp 2645.77 1/1 99 99 0 99 1.0 intergenic rs906220 HKDC1 AU 0.90635 0.994 0.897201 0.9102 0.9912 0.56 T 0.0 P -1.017 T 0.01 T 0.005 T Uncertain 10_71060634_G->A 10 71060634 71060634 G A snp 2583.77 1/1 99 95 0 95 1.0 intergenic rs906221 HKDC1 AU 0.90655 0.994 0.897554 0.9094 0.9914 Uncertain 10_71060696_G->A 10 71060696 71060696 G A snp 1342.77 1/1 96 44 0 44 1.0 intergenic rs906222 HKDC1 AU 0.90615 0.994 0.896189 Uncertain 10_71060707_T->A 10 71060707 71060707 T A snp 1192.77 1/1 87 34 0 34 1.0 intergenic rs906223 HKDC1 AU 0.901957 0.994 Uncertain 10_71098195_G->T 10 71098195 71098195 G T snp 816.77 1/1 60 29 0 29 1.0 intronic rs906216 HK1 AR NM_033498 exon5 c.55083-5387G>T 0.390176 0.1438 Uncertain 10_71098295_T->A 10 71098295 71098295 T A snp 1158.77 1/1 84 42 0 42 1.0 intronic rs7912524 HK1 AR NM_033498 exon5 c.55083-5287T>A 0.501797 0.252 0.5399 0.2353 Uncertain 10_71103597_C->G 10 71103597 71103597 C G snp 719.77 1/1 54 22 0 22 1.0 exonic rs1133189 HK1 AR synonymous SNV NM_000188 exon2 c.C78G p.L26L 0.283347 0.122 0.376211 0.3238 0.1201 Uncertain 10_71128545_A->G 10 71128545 71128545 A G snp 81.28 1/1 9 3 0 3 1.0 intronic rs12359036 HK1 AR NM_033498 exon8 c.79888+158A>G 0.131589 0.122 Uncertain 10_71142183_G->A 10 71142183 71142183 G A snp 978.77 0/1 99 83 39 44 0.53 intronic rs4746846 HK1 AR NM_033498 exon13 c.93743-59G>A 0.290335 0.497 Uncertain 10_71142420_G->A 10 71142420 71142420 G A snp 1314.77 0/1 99 125 68 57 0.46 exonic rs748235 HK1 AR synonymous SNV NM_000188 exon10 c.G1443A p.K481K 0.778754 0.6409 0.820083 0.7832 0.6682 Uncertain 10_71143951_T->C 10 71143951 71143951 T C snp 76.77 0/1 99 9 5 4 0.44 intronic rs2305197 HK1 AR NM_033498 exon14 c.95589-137T>C 0.136182 0.1647 Uncertain 10_71144324_G->A 10 71144324 71144324 G A snp 284.77 0/1 99 30 20 10 0.33 intronic rs2305196 HK1 AR NM_033498 exon14 c.95738+87G>A 0.321486 0.4772 Uncertain 10_71144702_G->A 10 71144702 71144702 G A snp 1044.77 0/1 99 60 20 40 0.67 intronic rs749105 HK1 AR NM_033498 exon15 c.96172+31G>A 0.655551 0.5179 0.719668 0.6702 0.5565 Uncertain 10_71152091_T->C 10 71152091 71152091 T C snp 1522.77 1/1 99 60 0 60 1.0 intronic rs2278745 HK1 AR NM_033498 exon18 c.103565+27T>C 0.602436 0.6101 0.553360 0.5534 0.6237 Uncertain 10_71164655_C->T 10 71164655 71164655 C T snp 2670.77 0/1 99 213 100 113 0.53 exonic rs2229170 TACR2 AU nonsynonymous SNV NM_001057 exon5 c.G1124A p.R375H 0.125799 0.1161 0.140166 0.1763 0.1364 0.39 T 0.0 P -1.105 T 0.001 T 0.001 T Pathogenic 10_71168645_C->T 10 71168645 71168645 C T snp 86.77 0/1 30 5 1 4 0.8 intronic rs111313275 TACR2 AU NM_001057 exon3 c.4096-32C>T Uncertain 10_71168653_T->G 10 71168653 71168653 T G snp 61.77 0/1 90 12 8 4 0.33 intronic rs113690919 TACR2 AU NM_001057 exon3 c.4096-24T>G 0.57488 0.3036 Uncertain 10_71168685_A->T 10 71168685 71168685 A T snp 1159.77 1/1 84 41 0 41 1.0 exonic rs55953810 TACR2 AU nonsynonymous SNV NM_001057 exon3 c.T734A p.M245K 1 1 0.9999 1 1 T 0.002 P -0.945 T 0.0 T 0.0 T Pathogenic 10_71168727_C->T 10 71168727 71168727 C T snp 690.77 0/1 99 77 43 34 0.44 exonic rs77038916 TACR2 AU nonsynonymous SNV NM_001057 exon3 c.G692A p.G231E 0.126597 0.4196 0.003614 0.0712 0.4181 0 D 1.000 P -0.988 T 1.0 D 0.985 D Pathogenic 10_71168945_C->G 10 71168945 71168945 C G snp 157.77 0/1 63 7 2 5 0.71 intronic rs1549797 TACR2 AU NM_001057 exon3 c.4250+114C>G 0.559305 0.3026 Uncertain 10_71174989_T->C 10 71174989 71174989 T C snp 42.77 0/1 33 3 1 2 0.67 intronic rs2290020 TACR2 AU NM_001057 exon4 c.10314+94T>C 0.584065 0.3056 Uncertain 10_71211644_G->T 10 71211644 71211644 G T snp 99.28 1/1 9 3 0 3 1.0 intronic rs12413529 TSPAN15 AU NM_012339 exon1 c.96+198G>T 0.176118 0.1091 Uncertain 10_71390392_C->T 10 71390392 71390392 C T snp 3396.77 1/1 99 128 0 128 1.0 intronic rs1947741 C10orf35 AU 0.513978 0.8522 0.4491 0.8719 Uncertain 10_71391351_A->G 10 71391351 71391351 A G snp 5882.77 1/1 99 205 0 205 1.0 intronic rs41277944 C10orf35 AU 0.105831 0.246 0.0705 0.2635 Uncertain 10_71391707_C->T 10 71391707 71391707 C T snp 1647.77 1/1 99 49 0 49 1.0 intronic rs2262274 C10orf35 AU NM_145306 exon3 c.96+112C>T 0.714457 0.8919 Uncertain 10_71391719_-->TGGGTAAGACT 10 71391719 71391719 - TGGGTAAGACT indel 4049.73 1/1 96 35 0 35 1.0 intronic rs144716370 C10orf35 AU NM_145306 exon3 c.96+124insTGGGTAAGACT 0.709065 0.8919 Uncertain 10_71392495_T->A 10 71392495 71392495 T A snp 1715.77 1/1 99 55 0 55 1.0 intronic rs2616089 C10orf35 AU NM_145306 exon4 c.1046-50T>A 0.709065 0.8909 0.646450 0.6885 0.8897 Uncertain 10_71392501_G->C 10 71392501 71392501 G C snp 1753.77 1/1 99 57 0 57 1.0 intronic rs2616088 C10orf35 AU NM_145306 exon4 c.1046-44G>C 0.709065 0.8909 0.646667 0.6892 0.8897 Uncertain 10_71392557_C->T 10 71392557 71392557 C T snp 2500.77 1/1 99 96 0 96 1.0 exonic rs12020 C10orf35 AU synonymous SNV NM_145306 exon4 c.C108T p.N36N 0.708466 0.8909 0.650385 0.6918 0.8933 Uncertain 10_71392692_T->C 10 71392692 71392692 T C snp 3782.77 1/1 99 139 1 138 0.99 exonic rs1052152 C10orf35 AU synonymous SNV NM_145306 exon4 c.T243C p.L81L 0.711062 0.8919 0.653237 0.6918 0.8943 Uncertain 10_71562437_G->A 10 71562437 71562437 G A snp 3083.77 1/1 99 125 0 125 1.0 exonic rs10998973 COL13A1 AR synonymous SNV NM_001130103 exon1 c.G258A p.T86T 0.527157 0.7073 0.463492 0.5526 0.7189 Uncertain 10_71620388_G->A 10 71620388 71620388 G A snp 1086.77 1/1 78 37 0 37 1.0 intronic rs10762320 COL13A1 AR NM_080800 exon4 c.69760-11551G>A 0.696685 0.9554 Uncertain 10_71620403_G->A 10 71620403 71620403 G A snp 658.77 0/1 99 46 16 30 0.65 intronic rs10823443 COL13A1 AR NM_080800 exon4 c.69760-11536G>A 0.297923 0.5327 0.2519 0.5 Uncertain 10_71620436_-->C 10 71620436 71620436 - C indel 2159.73 1/1 99 55 0 55 1.0 intronic rs398097064 COL13A1 AR NM_080800 exon4 c.69760-11503insC 0.721446 0.9603 0.7375 0.9315 Uncertain 10_71620532_G->A 10 71620532 71620532 G A snp 994.77 0/1 99 76 33 43 0.57 intronic rs12573749 COL13A1 AR NM_080800 exon4 c.69760-11407G>A 0.224441 0.3571 Uncertain 10_71620671_C->G 10 71620671 71620671 C G snp 391.77 1/1 30 11 0 11 1.0 intronic rs4341432 COL13A1 AR NM_080800 exon4 c.69760-11268C>G 0.719249 0.9593 Uncertain 10_71634639_A->G 10 71634639 71634639 A G snp 141.03 1/1 12 4 0 4 1.0 intronic rs2763360 COL13A1 AR NM_080800 exon5 c.72704-244A>G 0.927316 0.999 Uncertain 10_71635074_G->C 10 71635074 71635074 G C snp 391.77 1/1 30 10 0 10 1.0 intronic rs2683558 COL13A1 AR NM_080800 exon5 c.72740+155G>C 0.73123 0.995 Uncertain 10_71637832_A->G 10 71637832 71637832 A G snp 3331.77 1/1 99 115 0 115 1.0 intronic rs41277952 COL13A1 AR NM_080800 exon6 c.78079-2426A>G 0.178315 0.1944 0.0857 0.15 Uncertain 10_71648213_-->A 10 71648213 71648213 - A indel 299.73 0/1 99 31 19 12 0.39 intronic rs74503792 COL13A1 AR NM_080800 exon8 c.85907+127insA 0.0874601 0.1478 Uncertain 10_71649065_GGGGGCAGGGAGGAGCACA->- 10 71649065 71649083 GGGGGCAGGGAGGAGCACA - indel 1879.73 0/1 99 33 20 13 0.39 intronic rs143450012 COL13A1 AR NM_080800 exon9 c.86990-104_86990-86delGGGGGCAGGGAGGAGCACA 0.295527 0.4484 Uncertain 10_71649309_A->G 10 71649309 71649309 A G snp 581.77 0/1 99 68 42 26 0.38 intronic rs2683572 COL13A1 AR NM_080800 exon9 c.87017+113A>G 0.709665 0.5724 Uncertain 10_71655443_G->A 10 71655443 71655443 G A snp 3089.77 1/1 99 117 0 117 1.0 intronic rs1227744 COL13A1 AR NM_080800 exon12 c.93153+111G>A 0.927316 0.9891 Uncertain 10_71657272_A->G 10 71657272 71657272 A G snp 7011.77 1/1 99 250 0 250 1.0 exonic rs1227746 COL13A1 AR synonymous SNV NM_080805 exon11 c.A612G p.Q204Q 0.995407 1 0.996148 0.9987 1 Uncertain 10_71657489_A->G 10 71657489 71657489 A G snp 251.8 1/1 21 7 0 7 1.0 intronic rs10762322 COL13A1 AR NM_080805 exon11 c.95108+202A>G 0.678315 0.9325 Uncertain 10_71658512_G->A 10 71658512 71658512 G A snp 5731.77 1/1 99 221 0 221 1.0 exonic rs1227747 COL13A1 AR synonymous SNV NM_080798 exon10 c.G603A p.T201T 0.995407 1 0.996013 0.9987 1 Uncertain 10_71665676_G->C 10 71665676 71665676 G C snp 773.77 1/1 57 22 0 22 1.0 intronic rs2683575 COL13A1 AR NM_080800 exon16 c.103399+98G>C 0.802716 0.9792 Uncertain 10_71678058_C->G 10 71678058 71678058 C G snp 361.77 0/1 99 26 9 17 0.65 exonic rs2274181 COL13A1 AR synonymous SNV NM_080798 exon15 c.C843G p.A281A 0.214058 0.2946 0.173674 0.2396 0.2764 Uncertain 10_71681530_C->A 10 71681530 71681530 C A snp 895.77 0/1 99 47 17 30 0.64 intronic rs2274180 COL13A1 AR NM_080800 exon20 c.119458-107C>A 0.235224 0.2927 Uncertain 10_71681766_A->G 10 71681766 71681766 A G snp 1639.77 0/1 99 117 48 69 0.59 intronic rs4237324 COL13A1 AR NM_080800 exon20 c.119512+75A>G 0.20607 0.3026 0.162724 Uncertain 10_71685532_G->C 10 71685532 71685532 G C snp 971.77 0/1 99 78 37 41 0.53 intronic rs1227778 COL13A1 AR NM_080800 exon24 c.123380-27G>C 0.619028 0.6403 0.6045 Uncertain 10_71686677_G->A 10 71686677 71686677 G A snp 296.77 0/1 99 17 8 9 0.53 intronic rs2274178 COL13A1 AR NM_080800 exon25 c.124663-165G>A 0.235423 0.2054 Uncertain 10_71686906_G->- 10 71686906 71686906 G - indel 692.73 0/1 99 71 36 35 0.49 intronic rs3215785 COL13A1 AR NM_080800 exon25 c.124687+40delG 0.311901 0.2659 0.289993 0.2880 0.2367 Uncertain 10_71689645_T->G 10 71689645 71689645 T G snp 607.77 0/1 99 53 27 26 0.49 intronic rs2763339 COL13A1 AR NM_080800 exon27 c.127619-153T>G 0.653355 0.5813 Uncertain 10_71689967_G->- 10 71689967 71689967 G - indel 218.75 1/1 24 10 0 10 1.0 intronic rs398014029 COL13A1 AR NM_080800 exon27 c.127664+124delG 0.873403 0.9117 Uncertain 10_71689968_G->A 10 71689968 71689968 G A snp 82.77 0/1 99 9 4 5 0.56 intronic rs115514231 COL13A1 AR NM_080800 exon27 c.127664+125G>A 0.557508 0.498 Uncertain 10_71692556_C->G 10 71692556 71692556 C G snp 518.77 0/1 99 63 44 19 0.3 intronic rs7094009 COL13A1 AR NM_080800 exon29 c.130181+196C>G 0.567093 0.5218 Uncertain 10_71696413_C->T 10 71696413 71696413 C T snp 995.77 0/1 99 121 75 46 0.38 intronic rs12571041 COL13A1 AR NM_080800 exon31 c.134332-98C>T 0.184904 0.3313 Uncertain 10_71697229_A->G 10 71697229 71697229 A G snp 44.77 0/1 31 4 1 3 0.75 intronic rs3750782 COL13A1 AR NM_080800 exon32 c.135211-161A>G 0.35643 0.4157 Uncertain 10_71697516_G->C 10 71697516 71697516 G C snp 847.77 0/1 99 64 26 38 0.59 intronic rs3750781 COL13A1 AR NM_080800 exon32 c.135292+45G>C 0.340655 0.4157 0.299201 0.3196 0.4133 Uncertain 10_71697631_T->G 10 71697631 71697631 T G snp 40.77 0/1 69 5 3 2 0.4 intronic rs12415220 COL13A1 AR NM_080800 exon32 c.135292+160T>G 0.185703 0.3343 Uncertain 10_71703995_A->G 10 71703995 71703995 A G snp 372.77 0/1 99 35 18 17 0.49 intronic rs3750780 COL13A1 AR NM_080800 exon33 c.141755+61A>G 0.397963 0.3552 0.411301 Uncertain 10_71712502_C->T 10 71712502 71712502 C T snp 38.77 0/1 67 6 4 2 0.33 intronic rs3750779 COL13A1 AR NM_080800 exon36 c.150458-135C>T 0.195288 0.1925 Uncertain 10_71712896_G->A 10 71712896 71712896 G A snp 31.77 0/1 60 8 6 2 0.25 intronic rs4746015 COL13A1 AR NM_080800 exon36 c.150545+172G>A 0.427716 0.4643 Uncertain 10_71716639_C->T 10 71716639 71716639 C T snp 660.77 0/1 99 56 28 28 0.5 intronic rs4746939 COL13A1 AR NM_080800 exon37 c.154580-120C>T 0.185703 0.2341 Uncertain 10_71849936_C->A 10 71849936 71849936 C A snp 1625.77 0/1 99 127 64 63 0.5 intronic rs2271700 H2AFY2 AU NM_018649 exon3 c.14508+14C>A 0.273163 0.4514 0.169537 0.2170 0.4503 Uncertain 10_71851430_A->- 10 71851430 71851430 A - indel 30.73 0/1 68 11 6 5 0.45 intronic rs571416539 H2AFY2 AU NM_018649 exon4 c.16098-82delA 0.486821 0.4484 Uncertain 10_71855305_T->C 10 71855305 71855305 T C snp 452.77 0/1 99 50 31 19 0.38 intronic rs76456697 H2AFY2 AU NM_018649 exon6 c.19995-104T>C 0.0756789 0.1964 Uncertain 10_71855597_G->A 10 71855597 71855597 G A snp 1160.77 0/1 99 71 21 50 0.7 intronic rs4426048 H2AFY2 AU NM_018649 exon6 c.20095+88G>A 0.105232 0.1964 Uncertain 10_71859747_T->G 10 71859747 71859747 T G snp 99.28 1/1 9 3 0 3 1.0 intronic rs3750768 H2AFY2 AU NM_018649 exon7 c.24549-216T>G 0.778754 0.8165 Uncertain 10_71859866_A->G 10 71859866 71859866 A G snp 1665.77 0/1 99 152 82 70 0.46 intronic rs3750769 H2AFY2 AU NM_018649 exon7 c.24549-97A>G 0.077476 0.2242 Uncertain 10_71874048_G->A 10 71874048 71874048 G A snp 2977.77 0/1 99 250 129 121 0.48 exonic rs1053495 AIFM2 AU synonymous SNV NM_001198696 exon9 c.C1008T p.D336D 0.189497 0.1835 0.135783 0.1312 0.1902 Uncertain 10_71874526_A->G 10 71874526 71874526 A G snp 164.77 0/1 99 19 13 6 0.32 intronic rs72807044 AIFM2 AU NM_001198696 exon2 c.742-149A>G 0.14377 0.1726 Uncertain 10_71874547_A->G 10 71874547 71874547 A G snp 408.77 0/1 99 24 10 14 0.58 intronic rs78812779 AIFM2 AU NM_001198696 exon2 c.742-128A>G 0.0221645 0.1071 Uncertain 10_71874683_G->A 10 71874683 71874683 G A snp 1779.77 0/1 99 145 71 74 0.51 exonic rs2271696 AIFM2 AU synonymous SNV NM_001198696 exon8 c.C963T p.Y321Y 0.141773 0.1716 0.103568 0.0962 0.1744 Uncertain 10_71874734_G->A 10 71874734 71874734 G A snp 2565.77 0/1 99 220 108 112 0.51 exonic rs2271695 AIFM2 AU synonymous SNV NM_001198696 exon8 c.C912T p.I304I 0.141573 0.1677 0.104260 0.0929 0.1632 Uncertain 10_71874784_C->T 10 71874784 71874784 C T snp 3051.77 0/1 99 250 123 127 0.51 exonic rs2271694 AIFM2 AU nonsynonymous SNV NM_001198696 exon8 c.G862A p.D288N 0.0658946 0.1667 0.008227 0.0398 0.1632 1 T 0.006 P -1.044 T 0.029 T 0.009 T Pathogenic 10_71876594_G->A 10 71876594 71876594 G A snp 1484.77 1/1 99 52 0 52 1.0 intronic rs2271693 AIFM2 AU NM_001198696 exon3 c.2597+64G>A 0.245407 0.3512 Uncertain 10_71876612_G->A 10 71876612 71876612 G A snp 351.77 0/1 99 38 23 15 0.39 intronic rs2271692 AIFM2 AU NM_001198696 exon3 c.2597+82G>A 0.0507188 0.1131 Uncertain 10_71880757_A->C 10 71880757 71880757 A C snp 1815.77 1/1 99 63 0 63 1.0 intronic rs4746962 AIFM2 AU NM_001198696 exon6 c.6914-90A>C 0.981629 0.999 Uncertain 10_71880858_A->G 10 71880858 71880858 A G snp 1301.77 0/1 99 129 68 61 0.47 exonic rs10999147 AIFM2 AU nonsynonymous SNV NM_001198696 exon4 c.T404C p.M135T 0.0928514 0.1637 0.066585 0.0887 0.1344 0.4 T 0.999 P -1.080 T 0.121 T 0.109 T Pathogenic 10_71902413_G->C 10 71902413 71902413 G C snp 490.77 0/1 99 48 26 22 0.46 intronic rs2292722 TYSND1 AU NM_173555 exon2 c.2744-10G>C 0.0341454 0.0516 0.037438 0.0724 0.1037 Uncertain 10_71903582_G->T 10 71903582 71903582 G T snp 767.77 0/1 99 54 24 30 0.56 intronic rs74560210 TYSND1 AU NM_173555 exon3 c.3918-15G>T 0.0345447 0.0516 0.031447 0.0397 0.0540 Uncertain 10_71903583_C->T 10 71903583 71903583 C T snp 789.77 0/1 99 55 24 31 0.56 intronic rs76946215 TYSND1 AU NM_173555 exon3 c.3918-14C>T 0.0345447 0.0516 0.029755 0.0397 0.0541 Uncertain 10_71905569_C->A 10 71905569 71905569 C A snp 1154.77 0/1 99 98 46 52 0.53 exonic rs3750774 TYSND1 AU synonymous SNV NM_001040273 exon1 c.G774T p.L258L 0.386581 0.5327 0.331769 0.4944 0.6044 Uncertain 10_71905695_A->G 10 71905695 71905695 A G snp 1897.77 0/1 99 148 72 76 0.51 exonic rs10999158 TYSND1 AU synonymous SNV NM_001040273 exon1 c.T648C p.G216G 0.326278 0.0615 0.408004 0.4440 0.1160 Uncertain 10_71905735_G->A 10 71905735 71905735 G A snp 2256.77 0/1 99 172 79 93 0.54 exonic rs11549689 TYSND1 AU nonsynonymous SNV NM_001040273 exon1 c.C608T p.P203L 0.0275559 0.0526 0.029581 0.0816 0.1926 0.23 T 1.000 N -0.890 T 0.004 T 0.005 T Pathogenic 10_71906010_C->G 10 71906010 71906010 C G snp 787.77 0/1 99 58 29 29 0.5 exonic rs11549688 TYSND1 AU synonymous SNV NM_001040273 exon1 c.G333C p.A111A 0.033746 0.0526 0.023086 0.0517 0.25 Uncertain 10_71906150_T->C 10 71906150 71906150 T C snp 984.77 0/1 99 91 52 39 0.43 exonic rs4746970 TYSND1 AU nonsynonymous SNV NM_001040273 exon1 c.A193G p.T65A 0.385383 0.5327 0.323877 0.5247 0.6371 0.13 T 0.0 P -0.947 T 0.002 T 0.003 T Pathogenic 10_71969062_G->A 10 71969062 71969062 G A snp 381.77 1/1 30 10 0 10 1.0 intronic rs9415006 PPA1 AU NM_021129 exon4 c.6136+16G>A 0.928315 0.998 0.890308 0.8862 0.9991 Uncertain 10_71970259_G->A 10 71970259 71970259 G A snp 410.77 0/1 99 31 16 15 0.48 intronic rs3969945 PPA1 AU NM_021129 exon5 c.6531+818G>A 0.327077 0.4851 Uncertain 10_71974468_C->T 10 71974468 71974468 C T snp 1351.77 1/1 96 49 0 49 1.0 intronic rs7911572 PPA1 AU NM_021129 exon7 c.11432+126C>T 0.714058 0.7679 Uncertain 10_72014967_G->T 10 72014967 72014967 G T snp 1818.77 0/1 99 121 51 70 0.58 exonic rs113487866 NPFFR1 AU nonsynonymous SNV NM_022146 exon4 c.C1039A p.R347S 0.0297524 0.0556 0.025444 0.0956 0.1734 0.4 T 0.960 N -1.066 T 0.013 T 0.008 T Pathogenic 10_72015640_G->A 10 72015640 72015640 G A snp 101.77 0/1 99 7 3 4 0.57 intronic rs375383639 NPFFR1 AU NM_022146 exon1 c.871+57G>A 0.000998403 0.004 Uncertain 10_72026279_G->C 10 72026279 72026279 G C snp 293.77 0/1 99 22 11 11 0.5 intronic rs3812697 NPFFR1 AU NM_022146 exon3 c.11435+132G>C 0.248602 0.2321 Uncertain 10_72037687_-->G 10 72037687 72037687 - G indel 1209.73 0/1 99 71 32 39 0.55 intronic rs35789490 NPFFR1 AU NM_022146 exon4 c.28713-5738insG 0.323682 0.3899 0.295380 0.3732 0.3354 Uncertain 10_72043389_T->G 10 72043389 72043389 T G snp 2097.77 1/1 99 81 0 81 1.0 intronic rs1889394 NPFFR1 AU NM_022146 exon4 c.28713-36T>G 0.988618 1 0.9989 1 Uncertain 10_72043460_T->G 10 72043460 72043460 T G snp 344.77 0/1 99 53 37 16 0.3 upstream rs10999239 NPFFR1 AU 0.234026 0.256 0.3218 0.2816 Uncertain 10_72061079_C->T 10 72061079 72061079 C T snp 1798.77 1/1 99 64 0 64 1.0 UTR3 rs10740336 LRRC20 AU 0.987819 1 0.984284 0.9936 1 Uncertain 10_72061420_A->G 10 72061420 72061420 A G snp 655.77 1/1 51 19 0 19 1.0 intronic rs4746997 LRRC20 AU NM_018205 exon1 c.155+156A>G 0.98742 1 Uncertain 10_72083596_C->A 10 72083596 72083596 C A snp 1034.77 0/1 99 86 38 48 0.56 intronic rs143872768 LRRC20 AU NM_207119 exon2 c.22509-22C>A 0.00479233 0.0238 0.0018 0.0247 Uncertain 10_72135967_A->G 10 72135967 72135967 A G snp 88.28 1/1 9 3 0 3 1.0 intronic rs10732417 LRRC20 AU NM_018205 exon3 c.75098-240A>G 0.988019 1 Uncertain 10_72164470_C->T 10 72164470 72164470 C T snp 44.78 0/1 27 3 1 2 0.67 intronic rs3750766 EIF4EBP2 AU NM_004096 exon1 c.145+168C>T 0.323882 0.6349 Uncertain 10_72179746_C->T 10 72179746 72179746 C T snp 5535.77 1/1 99 198 0 198 1.0 exonic rs1043098 EIF4EBP2 AU synonymous SNV NM_004096 exon2 c.C222T p.H74H 0.51278 0.7272 0.466785 0.5027 0.7250 Uncertain 10_72181460_G->T 10 72181460 72181460 G T snp 1820.77 1/1 99 67 0 67 1.0 intronic rs3793809 EIF4EBP2 AU NM_004096 exon3 c.17314-11G>T 0.806709 0.9683 0.720590 0.7689 0.9537 Uncertain 10_72195439_T->C 10 72195439 72195439 T C snp 4421.77 1/1 99 147 0 147 1.0 exonic rs1904589 NODAL AD nonsynonymous SNV NM_018055 exon2 c.A494G p.H165R 0.665735 0.9563 0.538598 0.6171 0.9487 0.54 T 0.0 P -1.036 T 0.0 T 0.0 T CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000081930.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 ID=CM0911335;DIS=Reduced activity;TAG=FP;PUB=19553149 FP Pathogenic 10_72201219_G->A 10 72201219 72201219 G A snp 933.77 0/1 99 96 57 39 0.41 intronic rs10999338 NODAL AD NM_018055 exon3 c.8539-11G>A 0.339657 0.6349 0.335717 0.4705 0.6824 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000081929.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 10_72207518_C->- 10 72207518 72207518 C - indel 1694.73 1/1 99 41 0 41 1.0 intergenic rs34717077 NODAL AD 0.803115 0.7262 Uncertain 10_72288900_G->A 10 72288900 72288900 G A snp 1553.77 1/1 99 50 3 47 0.94 intronic rs10999377 PALD1 AU NM_014431 exon3 c.3277-84G>A 0.348243 0.5109 Uncertain 10_72288965_CCCC->- 10 72288965 72288968 CCCC - indel 3200.73 ./1 99 98 5 93 0.95 intronic rs768292430 PALD1 AU NM_014431 exon3 c.3277-19_3277-16delCCCC 0.0629 0.0988 Uncertain 10_72288965_CCC->- 10 72288965 72288967 CCC - indel 3200.73 ./1 99 98 5 93 0.95 intronic rs35468231 PALD1 AU NM_014431 exon3 c.3277-19_3277-17delCCC 0.994409 0.997 0.0980 0.0494 Uncertain 10_72288969_C->A 10 72288969 72288969 C A snp 606.77 0/1 99 99 63 36 0.36 intronic rs541887111 PALD1 AU NM_014431 exon3 c.3277-15C>A 0.994409 0.997 0.5164 0.4767 Uncertain 10_72288970_C->A 10 72288970 72288970 C A snp 243.77 0/1 99 103 84 19 0.18 intronic rs747342212 PALD1 AU NM_014431 exon3 c.3277-14C>A 0.2004 0.5584 Uncertain 10_72289126_T->C 10 72289126 72289126 T C snp 762.77 1/1 57 30 0 30 1.0 intronic rs10823560 PALD1 AU NM_014431 exon3 c.3380+39T>C 0.219649 0.504 0.102432 0.2087 0.5146 Uncertain 10_72289701_G->A 10 72289701 72289701 G A snp 3646.77 1/1 99 135 0 135 1.0 exonic rs2275059 PALD1 AU synonymous SNV NM_014431 exon4 c.G345A p.V115V 0.218051 0.503 0.108258 0.1806 0.4796 Uncertain 10_72291304_G->A 10 72291304 72291304 G A snp 174.9 1/1 15 5 0 5 1.0 intronic rs7079876 PALD1 AU NM_014431 exon5 c.5503+94G>A 0.877396 0.998 Uncertain 10_72293850_C->T 10 72293850 72293850 C T snp 515.77 1/1 39 16 0 16 1.0 intronic rs869574 PALD1 AU NM_014431 exon8 c.8122+21C>T 0.204673 0.502 0.076888 0.1831 0.5011 Uncertain 10_72298631_T->C 10 72298631 72298631 T C snp 6752.77 1/1 99 249 0 249 1.0 intronic rs1122918 PALD1 AU NM_014431 exon13 c.12940-16T>C 0.900559 0.999 0.898785 0.9361 0.9993 Uncertain 10_72307101_C->T 10 72307101 72307101 C T snp 2213.77 1/1 99 90 0 90 1.0 exonic rs3740447 PALD1 AU nonsynonymous SNV NM_014431 exon18 c.C2161T p.R721C 0.204073 0.5079 0.107412 0.1687 0.4821 0 D 0.998 P -0.919 T 0.997 D 0.857 D Pathogenic 10_72324143_A->G 10 72324143 72324143 A G snp 1926.77 1/1 99 65 0 65 1.0 exonic rs7093516 PALD1 AU synonymous SNV NM_014431 exon19 c.A2286G p.Q762Q 0.95607 1 0.959326 0.9877 1 1.0 P -1.014 T Likely benign 10_72357713_C->T 10 72357713 72357713 C T snp 48.74 1/1 6 2 0 2 1.0 UTR3 rs1889490 PRF1 AU,AR 0.577875 0.6101 Uncertain 10_72358577_G->A 10 72358577 72358577 G A snp 7281.77 1/1 99 249 1 248 1.0 exonic rs885822 PRF1 AU,AR synonymous SNV NM_001083116 exon3 c.C900T p.H300H 0.695887 0.7341 0.662387 0.6357 0.7648 Uncertain 10_72434194_G->A 10 72434194 72434194 G A snp 1937.77 1/1 99 59 0 59 1.0 intronic rs614201 ADAMTS14 AU NM_139155 exon2 c.1753-117G>A 0.647764 0.8403 Uncertain 10_72490102_C->T 10 72490102 72490102 C T snp 710.77 0/1 99 61 33 28 0.46 intronic rs7895554 ADAMTS14 AU NM_139155 exon6 c.57456+88C>T 0.242812 0.4454 Uncertain 10_72492212_T->C 10 72492212 72492212 T C snp 2115.77 1/1 99 62 0 62 1.0 intronic rs2587478 ADAMTS14 AU NM_139155 exon7 c.59557+97T>C 1 1 Uncertain 10_72492244_A->C 10 72492244 72492244 A C snp 686.77 0/1 99 37 16 21 0.57 intronic rs10740357 ADAMTS14 AU NM_139155 exon7 c.59557+129A>C 0.650559 0.5526 Uncertain 10_72493876_T->C 10 72493876 72493876 T C snp 1531.77 1/1 99 50 0 50 1.0 intronic rs10740358 ADAMTS14 AU NM_139155 exon8 c.61226+92T>C 0.820487 0.8899 Uncertain 10_72494778_G->A 10 72494778 72494778 G A snp 1108.77 1/1 81 30 0 30 1.0 intronic rs12765664 ADAMTS14 AU NM_139155 exon9 c.62366-146G>A 0.812101 0.8998 Uncertain 10_72496317_C->T 10 72496317 72496317 C T snp 161.9 1/1 15 5 0 5 1.0 intronic rs1861518 ADAMTS14 AU NM_139155 exon10 c.63877-118C>T 0.579273 0.7619 Uncertain 10_72496375_A->G 10 72496375 72496375 A G snp 1129.77 1/1 84 32 0 32 1.0 intronic rs1861517 ADAMTS14 AU NM_139155 exon10 c.63877-60A>G 0.98742 1 Uncertain 10_72498841_G->A 10 72498841 72498841 G A snp 56.74 1/1 6 2 0 2 1.0 intronic rs4746061 ADAMTS14 AU NM_139155 exon11 c.66188+95G>A 0.294728 0.6151 Uncertain 10_72500763_T->C 10 72500763 72500763 T C snp 5585.77 1/1 99 209 0 209 1.0 exonic rs10823607 ADAMTS14 AU nonsynonymous SNV NM_080722 exon12 c.T1769C p.L590P 0.79992 0.9097 0.808319 0.8399 0.9211 0.1 T 0.0 P -1.036 T 0.0 T 0.004 T Pathogenic 10_72500863_C->G 10 72500863 72500863 C G snp 4813.77 1/1 99 172 0 172 1.0 exonic rs10999500 ADAMTS14 AU synonymous SNV NM_080722 exon12 c.C1869G p.S623S 0.667133 0.8571 0.618099 0.6276 0.8659 Uncertain 10_72503344_G->A 10 72503344 72503344 G A snp 6825.77 1/1 99 249 0 249 1.0 exonic rs10999502 ADAMTS14 AU synonymous SNV NM_080722 exon13 c.G1965A p.T655T 0.311502 0.5387 0.198678 0.2691 0.5217 Uncertain 10_72503542_C->T 10 72503542 72503542 C T snp 133.03 1/1 12 4 0 4 1.0 intronic rs4746063 ADAMTS14 AU NM_139155 exon13 c.70879+105C>T 0.281749 0.5417 Uncertain 10_72504087_C->T 10 72504087 72504087 C T snp 56.74 1/1 6 2 0 2 1.0 intronic rs10823609 ADAMTS14 AU NM_139155 exon14 c.71387+142C>T 0.211661 0.5288 Uncertain 10_72505315_A->G 10 72505315 72505315 A G snp 352.78 1/1 27 12 0 12 1.0 intronic rs2791183 ADAMTS14 AU NM_139155 exon15 c.72504+253A>G 0.694289 0.8383 Uncertain 10_72511778_T->C 10 72511778 72511778 T C snp 1581.77 1/1 99 48 1 47 0.98 intronic rs10999511 ADAMTS14 AU NM_139155 exon18 c.79292-72T>C 0.310104 0.5536 Uncertain 10_72517830_G->A 10 72517830 72517830 G A snp 745.77 0/1 99 67 36 31 0.46 exonic rs10999516 ADAMTS14 AU nonsynonymous SNV NM_080722 exon20 c.G3050A p.S1017N 0.213458 0.37 0.165539 0.1882 0.3508 0.7 T 0.048 P -0.978 T 0.464 P 0.288 P Pathogenic 10_72518009_A->G 10 72518009 72518009 A G snp 1005.77 0/1 99 90 48 42 0.47 exonic rs4747096 ADAMTS14 AU nonsynonymous SNV NM_080722 exon21 c.A3146G p.E1049G 0.218051 0.37 0.170460 0.1888 0.3510 0.43 T 0.0 P -0.949 T 0.0 T 0.0 T Pathogenic 10_72518075_C->T 10 72518075 72518075 C T snp 829.77 0/1 99 82 43 39 0.48 intronic rs4747097 ADAMTS14 AU NM_139155 exon21 c.85483+34C>T 0.264776 0.3919 0.231852 0.2744 0.3755 Uncertain 10_72520259_C->T 10 72520259 72520259 C T snp 3200.06 0/1 99 250 119 131 0.52 exonic rs61573157 ADAMTS14 AU nonsynonymous SNV NM_080722 exon22 c.C3322T p.P1108S 0.0662939 0.0893 0.077964 0.0874 0.0942 0.26 T 0.0 P -1.077 T 0.002 T 0.002 T Pathogenic 10_72520660_T->C 10 72520660 72520660 T C snp 917.77 0/1 99 68 33 35 0.51 UTR3 rs10999519 ADAMTS14 AU 0.21865 0.371 0.169512 0.1977 0.3575 Uncertain 10_72532107_TAAATATTTGT->- 10 72532107 72532117 TAAATATTTGT - indel 6484.73 0/1 99 115 49 66 0.57 intronic rs3832689 TBATA AU NM_152710 exon2 c.1138-162_1138-152delTAAATATTTGT 0.294129 0.5139 0.3386 0.6080 Uncertain 10_72532238_T->C 10 72532238 72532238 T C snp 1325.77 0/1 99 120 63 57 0.47 intronic rs2253801 TBATA AU NM_152710 exon2 c.1138-31T>C 0.448083 0.3889 0.442565 0.4415 0.4073 Uncertain 10_72532443_G->A 10 72532443 72532443 G A snp 188.77 0/1 99 13 5 8 0.62 intronic rs10823618 TBATA AU NM_152710 exon2 c.1191+121G>A 0.29373 0.5109 Uncertain 10_72533910_C->T 10 72533910 72533910 C T snp 650.03 1/1 12 23 1 22 0.96 intronic rs7077672 TBATA AU NM_152710 exon3 c.2837-58C>T 0.795727 0.7986 Uncertain 10_72534212_C->T 10 72534212 72534212 C T snp 52.77 0/1 81 16 13 3 0.19 intronic rs7078118 TBATA AU NM_152710 exon3 c.2982+99C>T 0.402955 0.5159 Uncertain 10_72535007_C->T 10 72535007 72535007 C T snp 7165.77 1/1 99 250 0 250 1.0 exonic rs2254174 TBATA AU nonsynonymous SNV NM_152710 exon8 c.G710A p.R237Q 0.771565 0.627 0.863525 0.8245 0.5807 1 T 1.000 P -0.987 T 0.0 T 0.0 T Pathogenic 10_72535065_A->G 10 72535065 72535065 A G snp 2310.77 0/1 99 238 136 102 0.43 intronic rs10823619 TBATA AU NM_152710 exon4 c.3895+39A>G 0.0874601 0.0893 0.105874 0.1212 0.0901 Uncertain 10_72535195_G->A 10 72535195 72535195 G A snp 665.77 1/1 51 17 0 17 1.0 intronic rs2791197 TBATA AU NM_152710 exon4 c.3895+169G>A 0.991014 1 Uncertain 10_72536779_A->C 10 72536779 72536779 A C snp 1496.77 1/1 99 45 0 45 1.0 intronic rs2254422 TBATA AU NM_152710 exon5 c.5777-129A>C 0.99381 1 Uncertain 10_72537450_T->C 10 72537450 72537450 T C snp 791.77 1/1 60 22 0 22 1.0 intronic rs2254445 TBATA AU NM_152710 exon5 c.5960+359T>C 0.99381 1 Uncertain 10_72543028_C->A 10 72543028 72543028 C A snp 2164.77 0/1 99 236 133 103 0.44 intronic rs57085366 TBATA AU NM_152710 exon9 c.11963-66C>A 0.0686901 0.131 0.038546 Uncertain 10_72576434_G->C 10 72576434 72576434 G C snp 37.77 0/1 66 6 4 2 0.33 intronic SGPL1 AU Uncertain 10_72619205_C->T 10 72619205 72619205 C T snp 4630.77 1/1 99 176 0 176 1.0 exonic rs827255 SGPL1 AU synonymous SNV NM_003901 exon7 c.C564T p.I188I 0.984824 1 0.982547 0.9955 1 1.0 P -1.024 T Likely benign 10_72629567_C->T 10 72629567 72629567 C T snp 1510.77 0/1 99 130 63 67 0.52 exonic rs827249 SGPL1 AU synonymous SNV NM_003901 exon9 c.C723T p.A241A 0.0686901 0.1369 0.039828 0.0534 0.1406 Uncertain 10_72631626_C->T 10 72631626 72631626 C T snp 3036.77 1/1 99 112 1 111 0.99 exonic rs865832 SGPL1 AU synonymous SNV NM_003901 exon11 c.C942T p.V314V 0.160543 0.2163 0.164463 0.1764 0.2224 Uncertain 10_72645200_T->C 10 72645200 72645200 T C snp 56.74 1/1 6 2 0 2 1.0 intronic rs827242 PCBD1 AR NM_000281 exon2 c.1283+211T>C 0.984824 1 Uncertain 10_72648086_A->G 10 72648086 72648086 A G snp 475.77 1/1 36 19 0 19 1.0 intronic rs827239 PCBD1 AR NM_001289797 exon4 c.4305+75A>G 0.996605 1 Uncertain 10_72648134_A->G 10 72648134 72648134 A G snp 886.77 1/1 63 33 0 33 1.0 intronic rs827238 PCBD1 AR NM_001289797 exon4 c.4305+123A>G Uncertain 10_72648336_C->T 10 72648336 72648336 C T snp 115.77 0/1 99 9 3 6 0.67 UTR5 rs827237 PCBD1 AR 0.124002 0.0804 1 . Uncertain 10_73039860_C->T 10 73039860 73039860 C T snp 961.77 1/1 72 25 0 25 1.0 intronic rs4415677 UNC5B AU NM_170744 exon2 c.67060+58C>T 0.646366 0.6448 Uncertain 10_73044382_T->A 10 73044382 73044382 T A snp 333.78 1/1 27 11 0 11 1.0 intronic rs10823716 UNC5B AU NM_170744 exon3 c.71734-94T>A 0.917532 0.8393 Uncertain 10_73044413_G->C 10 73044413 73044413 G C snp 776.77 1/1 57 27 0 27 1.0 intronic rs10762434 UNC5B AU NM_170744 exon3 c.71734-63G>C 0.604034 0.6429 Uncertain 10_73044580_G->A 10 73044580 73044580 G A snp 1184.77 0/1 99 102 53 49 0.48 exonic rs12770025 UNC5B AU synonymous SNV NM_001244889 exon3 c.G408A p.A136A 0.498003 0.3879 0.617869 0.6225 0.3799 Uncertain 10_73044674_G->A 10 73044674 73044674 G A snp 2586.77 1/1 99 92 0 92 1.0 intronic rs10999762 UNC5B AU NM_170744 exon3 c.71878+54G>A 0.638379 0.6438 Uncertain 10_73044924_A->G 10 73044924 73044924 A G snp 736.77 1/1 54 20 0 20 1.0 intronic rs7350453 UNC5B AU NM_170744 exon4 c.72340-158A>G 0.917732 0.8393 Uncertain 10_73044930_C->T 10 73044930 73044930 C T snp 844.77 1/1 63 23 0 23 1.0 intronic rs7350455 UNC5B AU NM_170744 exon4 c.72340-152C>T 0.917732 0.8393 Uncertain 10_73044954_A->G 10 73044954 73044954 A G snp 1487.77 1/1 99 47 0 47 1.0 intronic rs6480503 UNC5B AU NM_170744 exon4 c.72340-128A>G 0.917732 0.8393 Uncertain 10_73045284_C->G 10 73045284 73045284 C G snp 510.77 1/1 39 14 0 14 1.0 intronic rs6415905 UNC5B AU NM_170744 exon4 c.72444+98C>G 0.724042 0.7718 Uncertain 10_73047593_G->A 10 73047593 73047593 G A snp 3518.77 1/1 99 128 0 128 1.0 intronic rs7074280 UNC5B AU NM_170744 exon6 c.74780+71G>A 0.990815 1 Uncertain 10_73047690_C->T 10 73047690 73047690 C T snp 433.77 1/1 33 11 0 11 1.0 intronic rs2277259 UNC5B AU NM_170744 exon6 c.74780+168C>T 0.740415 0.7123 Uncertain 10_73050983_C->T 10 73050983 73050983 C T snp 1287.77 1/1 96 35 0 35 1.0 intronic rs3740462 UNC5B AU NM_170744 exon9 c.78124+117C>T 0.628594 0.6409 Uncertain 10_73051038_G->C 10 73051038 73051038 G C snp 587.77 1/1 45 15 0 15 1.0 intronic rs3740461 UNC5B AU NM_170744 exon10 c.78446-150G>C 0.740415 0.7728 Uncertain 10_73055849_T->C 10 73055849 73055849 T C snp 96.28 1/1 9 4 0 4 1.0 intronic rs1105174 UNC5B AU NM_170744 exon14 c.82975+132T>C 0.740216 0.8393 Uncertain 10_73078862_C->G 10 73078862 73078862 C G snp 1910.77 1/1 99 75 0 75 1.0 upstream rs7924115 SLC29A3 AR 0.597244 0.498 Uncertain 10_73079147_G->A 10 73079147 73079147 G A snp 266.8 1/1 21 9 0 9 1.0 intronic rs17525188 SLC29A3 AR NM_018344 exon1 c.1+80G>A 0.482428 0.4157 Uncertain 10_73079229_T->C 10 73079229 73079229 T C snp 41.74 1/1 6 2 0 2 1.0 intronic rs41300554 SLC29A3 AR NM_018344 exon1 c.1+162T>C 0.483626 0.4157 Uncertain 10_73082563_A->G 10 73082563 73082563 A G snp 3683.77 1/1 99 134 0 134 1.0 exonic rs2277257 SLC29A3 AR nonsynonymous SNV NM_018344 exon2 c.A52G p.R18G 0.469249 0.3601 0.487390 0.4247 0.3408 0.17 T 0.971 P -0.950 T 0.001 T 0.002 T CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000118380.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 10_73104056_A->G 10 73104056 73104056 A G snp 6095.77 1/1 99 231 0 231 1.0 intronic rs2243540 SLC29A3 AR NM_018344 exon3 c.24982+8A>G 0.814297 0.6657 0.879440 0.8674 0.6910 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000118378.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 10_73115941_T->C 10 73115941 73115941 T C snp 2822.77 1/1 99 104 0 104 1.0 exonic rs2252997 SLC29A3 AR synonymous SNV NM_018344 exon5 c.T714C p.T238T 0.780751 0.6657 0.889051 0.8294 0.6857 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000118381.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 10_73115942_G->A 10 73115942 73115942 G A snp 2778.77 1/1 99 104 0 104 1.0 exonic rs2252996 SLC29A3 AR nonsynonymous SNV NM_018344 exon5 c.G715A p.V239I 0.760184 0.6657 0.861602 0.8217 0.6838 0.5 T 1.000 P -0.980 T 0.002 T 0.02 T CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000118382.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 10_73121913_A->G 10 73121913 73121913 A G snp 7506.77 1/1 99 250 0 250 1.0 exonic rs2487068 SLC29A3 AR nonsynonymous SNV NM_018344 exon6 c.A976G p.I326V 0.792732 0.6964 0.892280 0.8246 0.7087 1 T 1.000 P -0.954 T 0.002 T 0.029 T CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000118385.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 10_73121945_T->C 10 73121945 73121945 T C snp 7899.77 1/1 99 249 0 249 1.0 exonic rs1084004 SLC29A3 AR synonymous SNV NM_018344 exon6 c.T1008C p.G336G 0.753794 0.7153 0.866600 0.8302 0.7219 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000118375.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 10_73157033_-->CGAGG 10 73157033 73157033 - CGAGG indel 528.73 0/1 99 34 21 13 0.38 UTR5 rs147915565 CDH23 AR,AO 0.275359 0.4107 0 . Uncertain 10_73199333_A->G 10 73199333 73199333 A G snp 50.74 1/1 6 2 0 2 1.0 intronic rs10740381 CDH23 AR,AO 0.84365 0.8413 Uncertain 10_73199501_C->A 10 73199501 73199501 C A snp 1662.77 0/1 99 133 60 73 0.55 intronic rs4747153 CDH23 AR,AO 0.314497 0.4861 Uncertain 10_73269714_T->C 10 73269714 73269714 T C snp 1320.77 1/1 96 39 0 39 1.0 ncRNA_exonic rs2297953 LOC102723377 AU 0.733626 0.7758 Uncertain 10_73269715_G->A 10 73269715 73269715 G A snp 516.77 0/1 99 41 21 20 0.49 ncRNA_exonic rs78015574 LOC102723377 AU 0.0269569 0.124 Uncertain 10_73270906_T->C 10 73270906 73270906 T C snp 6045.77 1/1 99 218 1 217 1.0 exonic rs3802720 CDH23 AR,AO synonymous SNV NM_022124 exon6 c.T366C p.V122V 0.734625 0.7758 0.749597 0.6721 0.7765 CLINSIG=non-pathogenic,non-pathogenic;CLNDBN=not_specified,not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter,criteria_provided\x2c_single_submitter;CLNACC=RCV000150270.1,RCV000039162.2;CLNDSDB=MedGen,MedGen;CLNDSDBID=CN169374,CN169374 Uncertain 10_73270982_G->A 10 73270982 73270982 G A snp 5030.77 1/1 99 197 0 197 1.0 ncRNA_intronic rs3802719 LOC102723377 AU 0.72524 0.7758 0.739648 0.6691 0.7767 0.29 T 0.0 P -1.095 T CLINSIG=non-pathogenic,non-pathogenic;CLNDBN=not_specified,not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter,criteria_provided\x2c_single_submitter;CLNACC=RCV000154338.1,RCV000039174.2;CLNDSDB=MedGen,MedGen;CLNDSDBID=CN169374,CN169374 Uncertain 10_73270995_A->G 10 73270995 73270995 A G snp 4767.77 1/1 99 174 0 174 1.0 ncRNA_intronic rs3802718 LOC102723377 AU 0.73123 0.7758 0.743546 0.6709 0.7756 Uncertain 10_73326340_C->T 10 73326340 73326340 C T snp 174.9 1/1 15 5 0 5 1.0 intronic rs10999882 CDH23 AR,AO NM_022124 exon7 c.126910-158C>T 0.563498 0.7391 Uncertain 10_73377314_C->G 10 73377314 73377314 C G snp 465.77 0/1 99 36 17 19 0.53 intronic rs7903772 CDH23 AR,AO NM_001171932 exon11 c.177774-48C>G 0.549521 0.4752 Uncertain 10_73377330_T->C 10 73377330 73377330 T C snp 298.77 0/1 99 23 11 12 0.52 intronic rs6480536 CDH23 AR,AO NM_001171932 exon11 c.177774-32T>C 0.383387 0.5218 Uncertain 10_73403490_A->G 10 73403490 73403490 A G snp 1507.77 1/1 99 48 0 48 1.0 intronic rs10823810 CDH23 AR,AO NM_022124 exon12 c.205993-2091A>G 0.474042 0.4901 Uncertain 10_73405482_A->T 10 73405482 73405482 A T snp 2016.77 0/1 99 150 74 76 0.51 intronic rs41305004 CDH23 AR,AO NM_022124 exon12 c.205993-99A>T 0.0587061 0.0506 Uncertain 10_73406504_T->C 10 73406504 73406504 T C snp 853.77 0/1 99 60 28 32 0.53 intronic rs2305209 CDH23 AR,AO NM_022124 exon13 c.206786+130T>C 0.120607 0.0516 0.149792 0.1521 0.0808 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000039103.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 10_73406636_C->T 10 73406636 73406636 C T snp 40.77 0/1 69 5 3 2 0.4 intronic rs11598249 CDH23 AR,AO NM_022124 exon13 c.206786+262C>T 0.236821 0.3492 Uncertain 10_73434906_G->A 10 73434906 73434906 G A snp 910.77 0/1 99 78 35 43 0.55 exonic rs10999947 CDH23 AR,AO nonsynonymous SNV NM_022124 exon14 c.G1487A p.S496N 0.252396 0.2619 0.249881 0.2724 0.2918 0.62 T 1.000 P -0.988 T 0.0 T 0.005 T CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000039108.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 10_73439066_A->T 10 73439066 73439066 A T snp 5004.77 1/1 99 166 0 166 1.0 intronic rs3802717 CDH23 AR,AO NM_022124 exon16 c.239555-77A>T Uncertain 10_73439101_T->C 10 73439101 73439101 T C snp 7277.77 1/1 99 249 0 249 1.0 intronic rs1227042 CDH23 AR,AO NM_022124 exon16 c.239555-42T>C 0.915136 0.999 0.928418 0.9624 0.9984 Uncertain 10_73455201_T->C 10 73455201 73455201 T C snp 3849.77 0/1 99 250 117 133 0.53 exonic rs3752752 CDH23 AR,AO synonymous SNV NM_022124 exon21 c.T2316C p.N772N 0.554513 0.4385 0.668785 0.6362 0.5072 CLINSIG=non-pathogenic,non-pathogenic;CLNDBN=not_specified,not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter,criteria_provided\x2c_single_submitter;CLNACC=RCV000154334.1,RCV000039126.2;CLNDSDB=MedGen,MedGen;CLNDSDBID=CN169374,CN169374 Uncertain 10_73455273_T->C 10 73455273 73455273 T C snp 3302.77 0/1 99 242 116 126 0.52 exonic rs3752751 CDH23 AR,AO synonymous SNV NM_022124 exon21 c.T2388C p.D796D 0.553914 0.4345 0.669401 0.6363 0.5044 CLINSIG=non-pathogenic,non-pathogenic;CLNDBN=not_specified,not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter,criteria_provided\x2c_single_submitter;CLNACC=RCV000154335.1,RCV000039129.2;CLNDSDB=MedGen,MedGen;CLNDSDBID=CN169374,CN169374 Uncertain 10_73455308_T->C 10 73455308 73455308 T C snp 2735.77 0/1 99 219 102 117 0.53 intronic rs3752750 CDH23 AR,AO NM_022124 exon21 c.255694+26T>C 0.553914 0.4345 0.666344 0.6372 0.5065 Uncertain 10_73472868_C->G 10 73472868 73472868 C G snp 2083.77 0/1 99 236 142 94 0.4 UTR3 rs2394838 C10orf105 AU 0.44988 0.4544 0.346194 0.4034 0.5119 0.39 T 0.000 P -0.941 T Uncertain 10_73472882_C->T 10 73472882 73472882 C T snp 2312.77 0/1 99 250 150 100 0.4 UTR3 rs2166631 C10orf105 AU 0.441294 0.4544 0.345496 0.3686 0.4838 0.1 T 0.000 P -0.952 T Uncertain 10_73483645_C->T 10 73483645 73483645 C T snp 382.77 0/1 99 31 19 12 0.39 intronic rs3802713 C10orf105 AU NM_001164375 exon2 c.3886+4067C>T 0.188698 0.1766 Uncertain 10_73492079_A->G 10 73492079 73492079 A G snp 2656.77 0/1 99 249 135 114 0.46 exonic rs1227065 CDH23 AR,AO nonsynonymous SNV NM_022124 exon31 c.A4051G p.N1351D 0.782149 0.8194 0.812899 0.8159 0.8475 0.65 T 1.0 P -1.013 T 0.0 T 0.0 T CLINSIG=non-pathogenic,non-pathogenic;CLNDBN=not_specified,not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter,criteria_provided\x2c_multiple_submitters\x2c_no_conflicts;CLNACC=RCV000154336.1,RCV000039171.5;CLNDSDB=MedGen,MedGen;CLNDSDBID=CN169374,CN169374 Pathogenic 10_73494159_T->A 10 73494159 73494159 T A snp 1108.77 0/1 99 78 38 40 0.51 intronic rs1227062 C10orf105 AU NM_001168390 exon2 c.21792-3325T>A 0.760982 0.8204 Uncertain 10_73494229_T->C 10 73494229 73494229 T C snp 775.77 0/1 99 57 26 31 0.54 intronic rs1227061 C10orf105 AU NM_001168390 exon2 c.21792-3255T>C 0.761182 0.8204 Uncertain 10_73494288_G->A 10 73494288 73494288 G A snp 1260.77 0/1 99 94 41 53 0.56 intronic rs55724553 C10orf105 AU NM_001168390 exon2 c.21792-3196G>A 0.211861 0.1935 Uncertain 10_73500861_C->T 10 73500861 73500861 C T snp 497.77 0/1 99 23 8 15 0.65 intronic rs1227053 CDH23 AR,AO NM_022124 exon35 c.301119+154C>T 0.664736 0.628 Uncertain 10_73501374_C->T 10 73501374 73501374 C T snp 1728.77 0/1 99 108 42 66 0.61 intronic rs1227052 CDH23 AR,AO NM_022124 exon36 c.301862-76C>T 0.688299 0.627 Uncertain 10_73501556_G->A 10 73501556 73501556 G A snp 2652.77 0/1 99 250 143 107 0.43 exonic rs1227051 CDH23 AR,AO nonsynonymous SNV NM_022124 exon36 c.G4723A p.A1575T 0.728834 0.8254 0.741081 0.7752 0.8314 0.61 T 1.0 P -0.999 T 0.0 T 0.0 T CLINSIG=non-pathogenic,non-pathogenic;CLNDBN=not_specified,not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter,criteria_provided\x2c_single_submitter;CLNACC=RCV000154337.1,RCV000039189.2;CLNDSDB=MedGen,MedGen;CLNDSDBID=CN169374,CN169374 Pathogenic 10_73512920_A->- 10 73512920 73512920 A - indel 334.73 0/1 99 16 6 10 0.63 intronic rs3833467 C10orf54 AU NM_022153 exon3 c.1750+161delA 0.77496 0.6349 Uncertain 10_73514911_G->C 10 73514911 73514911 G C snp 905.77 0/1 99 68 34 34 0.5 intronic rs9415993 C10orf54 AU NM_022153 exon4 c.4106-204G>C 0.326478 0.3998 Uncertain 10_73514961_C->T 10 73514961 73514961 C T snp 205.77 0/1 99 19 12 7 0.37 intronic rs118051277 C10orf54 AU NM_022153 exon4 c.4106-154C>T 0.00119808 0.006 Uncertain 10_73515103_G->T 10 73515103 73515103 G T snp 846.77 0/1 99 60 27 33 0.55 intronic rs3747858 C10orf54 AU NM_022153 exon4 c.4106-12G>T 0.655551 0.5843 0.653107 0.6536 0.5873 Uncertain 10_73520632_A->C 10 73520632 73520632 A C snp 596.77 0/1 99 53 26 27 0.51 exonic rs3747869 C10orf54 AU nonsynonymous SNV NM_022153 exon3 c.T561G p.D187E 0.892772 0.7827 0.922805 0.8865 0.8084 0.95 T 0.001 P -0.972 T 0.0 T 0.001 T Pathogenic 10_73537358_G->A 10 73537358 73537358 G A snp 70.77 0/1 99 10 6 4 0.4 intronic rs41281328 CDH23 AR,AO NM_022124 exon37 c.337848-78G>A 0.172324 0.2808 Uncertain 10_73537388_T->C 10 73537388 73537388 T C snp 325.77 0/1 99 25 13 12 0.48 intronic rs7917781 CDH23 AR,AO NM_022124 exon37 c.337848-48T>C 0.407947 0.4881 0.401432 0.4364 0.4940 Uncertain 10_73538109_C->G 10 73538109 73538109 C G snp 584.77 0/1 99 50 27 23 0.46 intronic rs10740390 CDH23 AR,AO NM_022124 exon38 c.338477+44C>G 0.4377 0.494 0.398243 0.4029 0.4810 Uncertain 10_73538138_C->T 10 73538138 73538138 C T snp 315.77 0/1 99 25 12 13 0.52 intronic rs10823843 CDH23 AR,AO NM_022124 exon38 c.338477+73C>T 0.130192 0.2827 Uncertain 10_73538164_T->C 10 73538164 73538164 T C snp 77.77 0/1 99 7 4 3 0.43 intronic rs10762481 CDH23 AR,AO NM_022124 exon38 c.338477+99T>C 0.413139 0.4891 Uncertain 10_73544638_A->G 10 73544638 73544638 A G snp 1474.77 0/1 99 92 37 55 0.6 intronic rs2394839 CDH23 AR,AO NM_022124 exon41 c.345059-9A>G 0.183506 0.2976 0.129017 0.1915 0.2970 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000039217.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 10_73550969_G->A 10 73550969 73550969 G A snp 2376.77 0/1 99 189 88 101 0.53 exonic rs10466026 CDH23 AR,AO nonsynonymous SNV NM_022124 exon45 c.G6130A p.E2044K 0.332668 0.5288 0.265481 0.3111 0.5253 0.78 T 1.0 P -1.032 T 0.635 T 0.32 P CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=criteria_provided\x2c_multiple_submitters\x2c_no_conflicts|criteria_provided\x2c_single_submitter;CLNACC=RCV000039237.4|RCV000124202.1;CLNDSDB=MedGen|MedGen;CLNDSDBID=CN169374|CN221809 Pathogenic 10_73558030_G->A 10 73558030 73558030 G A snp 491.77 0/1 99 57 38 19 0.33 intronic rs7068357 CDH23 AR,AO NM_022124 exon48 c.358522-80G>A 0.327875 0.5298 Uncertain 10_73558852_A->G 10 73558852 73558852 A G snp 781.77 0/1 99 65 37 28 0.43 intronic rs4747193 CDH23 AR,AO NM_022124 exon49 c.359279-15A>G 0.410743 0.5972 0.318094 0.3410 0.6199 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000039261.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 10_73558886_G->A 10 73558886 73558886 G A snp 1458.77 0/1 99 116 57 59 0.51 exonic rs4747194 CDH23 AR,AO nonsynonymous SNV NM_022124 exon49 c.G7073A p.R2358Q 0.341254 0.5298 0.262008 0.3081 0.5243 0.78 T 1.000 P -1.020 T 0.027 T 0.015 T CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter|criteria_provided\x2c_single_submitter;CLNACC=RCV000039262.2|RCV000124203.1;CLNDSDB=MedGen|MedGen;CLNDSDBID=CN169374|CN221809 Pathogenic 10_73558952_C->T 10 73558952 73558952 C T snp 2427.77 0/1 99 216 107 109 0.5 exonic rs4747195 CDH23 AR,AO nonsynonymous SNV NM_022124 exon49 c.C7139T p.P2380L 0.328275 0.5298 0.254335 0.2997 0.5260 0.03 T 1.000 P -0.845 T 1.0 D 0.981 D CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter|criteria_provided\x2c_single_submitter;CLNACC=RCV000039264.2|RCV000124204.1;CLNDSDB=MedGen|MedGen;CLNDSDBID=CN169374|CN221809 Pathogenic 10_73559227_C->T 10 73559227 73559227 C T snp 1026.77 0/1 99 61 22 39 0.64 intronic rs3802708 CDH23 AR,AO NM_022124 exon50 c.359660-21C>T 0.137979 0.2927 0.058500 0.1133 0.2978 Uncertain 10_73560497_C->T 10 73560497 73560497 C T snp 703.77 0/1 99 74 42 32 0.43 exonic rs111033289 CDH23 AR,AO synonymous SNV NM_022124 exon51 c.C7467T p.R2489R 0.0397364 0.1121 0.012856 0.0128 0.0867 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter|criteria_provided\x2c_single_submitter;CLNACC=RCV000039267.2|RCV000124205.1;CLNDSDB=MedGen|MedGen;CLNDSDBID=CN169374|CN221809 Uncertain 10_73562744_G->A 10 73562744 73562744 G A snp 3762.77 0/1 99 250 105 145 0.58 exonic rs10823849 CDH23 AR,AO synonymous SNV NM_022124 exon52 c.G7572A p.A2524A 0.328474 0.5298 0.248830 0.3019 0.5222 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter|criteria_provided\x2c_single_submitter;CLNACC=RCV000039270.2|RCV000124206.1;CLNDSDB=MedGen|MedGen;CLNDSDBID=CN169374|CN221809 Uncertain 10_73566203_T->A 10 73566203 73566203 T A snp 245.77 0/1 99 28 16 12 0.43 intronic rs4747197 CDH23 AR,AO NM_022124 exon55 c.366450+165T>A 0.328474 0.5298 Uncertain 10_73571581_-->CT 10 73571581 73571581 - CT indel 666.73 0/1 99 22 7 15 0.68 intronic rs140848302 CDH23 AR,AO NM_022124 exon63 c.371922+71insCT 0.788139 0.75 0.771707 Uncertain 10_73571619_C->G 10 73571619 73571619 C G snp 437.77 0/1 99 29 12 17 0.59 intronic rs41281340 CDH23 AR,AO NM_022124 exon64 c.372123-92C>G 0.205471 0.3542 Uncertain 10_73571765_T->C 10 73571765 73571765 T C snp 3095.77 0/1 99 240 110 130 0.54 exonic rs45583140 CDH23 AR,AO nonsynonymous SNV NM_022124 exon64 c.T9373C p.F3125L 0.0954473 0.251 0.025518 0.0697 0.2521 0.03 T 1.000 P -1.113 T 0.951 T 0.501 D CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter|criteria_provided\x2c_single_submitter;CLNACC=RCV000039308.2|RCV000086979.2;CLNDSDB=MedGen|MedGen;CLNDSDBID=CN169374|CN221809 Pathogenic 10_73571881_G->A 10 73571881 73571881 G A snp 1346.77 0/1 99 88 45 43 0.49 intronic rs11000014 CDH23 AR,AO NM_022124 exon64 c.372184+109G>A 0.139177 0.2877 Uncertain 10_73571883_C->T 10 73571883 73571883 C T snp 1292.77 0/1 99 84 44 40 0.48 intronic rs11000015 CDH23 AR,AO NM_022124 exon64 c.372184+111C>T 0.198682 0.3542 Uncertain 10_73574843_G->A 10 73574843 73574843 G A snp 2631.77 0/1 99 184 86 98 0.53 exonic rs2290021 CDH23 AR,AO synonymous SNV NM_022124 exon68 c.G9873A p.T3291T 0.139776 0.2887 0.069327 0.1317 0.3051 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=criteria_provided\x2c_multiple_submitters\x2c_no_conflicts|criteria_provided\x2c_single_submitter;CLNACC=RCV000039317.2|RCV000124210.1;CLNDSDB=MedGen|MedGen;CLNDSDBID=CN169374|CN221809 Uncertain 10_73576307_C->T 10 73576307 73576307 C T snp 908.77 0/1 99 57 23 34 0.6 UTR3 rs7869 PSAP AR,AU 0.403954 0.5982 Uncertain 10_73577267_G->A 10 73577267 73577267 G A snp 771.77 0/1 99 46 17 29 0.63 intronic rs4747202 PSAP AR,AU NM_002778 exon1 c.36+34G>A 0.199081 0.3552 0.124097 0.1462 0.3864 Uncertain 10_73578503_G->A 10 73578503 73578503 G A snp 570.77 0/1 99 75 47 28 0.37 intronic rs885828 PSAP AR,AU NM_002778 exon2 c.1284+22G>A 0.40615 0.5982 0.328233 0.3338 0.6217 Uncertain 10_73578882_T->C 10 73578882 73578882 T C snp 1836.77 0/1 99 191 108 83 0.43 intronic rs4747203 PSAP AR,AU NM_002778 exon3 c.1671+14T>C 0.409944 0.5982 0.331001 0.3411 0.6241 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000080034.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 10_73579979_G->A 10 73579979 73579979 G A snp 860.77 0/1 99 66 36 30 0.45 intronic rs55829339 PSAP AR,AU NM_002778 exon6 c.2799-17G>A 0.199681 0.3552 0.124327 0.1463 0.3862 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000080033.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 10_73583520_G->C 10 73583520 73583520 G C snp 579.77 0/1 99 58 33 25 0.43 intronic rs2249814 PSAP AR,AU NM_001042465 exon8 c.5219+1104G>C 0.743211 0.752 Uncertain 10_73585526_A->G 10 73585526 73585526 A G snp 1124.77 0/1 99 114 64 50 0.44 intronic rs2593163 PSAP AR,AU NM_001042466 exon8 c.8395-66A>G 0.246805 0.3611 0.155059 0.2213 0.4724 Uncertain 10_73765773_T->G 10 73765773 73765773 T G snp 1394.77 0/1 99 120 59 61 0.51 intronic rs11000129 CHST3 AR NM_004273 exon2 c.140+33T>G 0.273762 0.0972 0.396894 0.3944 0.0984 Uncertain 10_73767859_G->A 10 73767859 73767859 G A snp 794.77 0/1 99 56 21 35 0.63 exonic rs3740129 CHST3 AR nonsynonymous SNV NM_004273 exon3 c.G1070A p.R357Q 0.273962 0.0893 0.358104 0.3643 0.1211 0.5 T 0.0 P -1.006 T 0.002 T 0.008 T Pathogenic 10_73768236_C->T 10 73768236 73768236 C T snp 209.77 0/1 99 24 17 7 0.29 UTR3 rs202242499 CHST3 AR 0.00539137 0.0268 0.000080 0.0051 0.0514 Uncertain 10_73822507_C->T 10 73822507 73822507 C T snp 283.77 0/1 99 22 9 13 0.59 UTR3 rs1530803 SPOCK2 AU 0.265974 0.1339 0.366523 0.3794 0.1354 Uncertain 10_73822957_G->A 10 73822957 73822957 G A snp 965.77 0/1 99 77 36 41 0.53 intronic rs1530802 SPOCK2 AU NM_014767 exon2 c.403+37G>A 0.240615 0.1161 0.334586 0.3732 0.1299 Uncertain 10_73823019_A->G 10 73823019 73823019 A G snp 626.77 1/1 48 18 0 18 1.0 intronic rs1668172 SPOCK2 AU NM_014767 exon2 c.403+99A>G 0.602436 0.4226 Uncertain 10_73824170_G->A 10 73824170 73824170 G A snp 109.77 0/1 99 16 11 5 0.31 intronic rs2242250 SPOCK2 AU NM_014767 exon3 c.1481+172G>A 0.240815 0.1161 Uncertain 10_73824181_C->G 10 73824181 73824181 C G snp 399.77 1/1 30 13 0 13 1.0 intronic rs2242251 SPOCK2 AU NM_014767 exon3 c.1481+183C>G 0.604633 0.4216 Uncertain 10_73824203_T->C 10 73824203 73824203 T C snp 350.78 1/1 27 11 0 11 1.0 intronic rs2242252 SPOCK2 AU NM_014767 exon3 c.1481+205T>C 0.602236 0.4216 Uncertain 10_73827292_A->G 10 73827292 73827292 A G snp 440.77 1/1 36 13 0 13 1.0 intronic rs1530804 SPOCK2 AU NM_014767 exon5 c.4853-78A>G 0.65595 0.4286 Uncertain 10_73832859_C->T 10 73832859 73832859 C T snp 728.77 1/1 54 19 0 19 1.0 intronic rs896074 SPOCK2 AU NM_014767 exon10 c.10151+191C>T 0.603634 0.4087 Uncertain 10_73964004_C->T 10 73964004 73964004 C T snp 381.77 1/1 30 13 0 13 1.0 intronic rs4237336 ASCC1 AR,AU NM_001198799 exon10 c.102053-175C>T 1 1 Uncertain 10_74035041_T->A 10 74035041 74035041 T A snp 898.77 1/1 66 29 0 29 1.0 UTR3 rs1053639 DDIT4 AU 0.46266 0.8085 Uncertain 10_74237247_-->T 10 74237247 74237247 - T indel 6581.73 1/1 99 159 0 159 1.0 intronic rs35126406 MICU1 AR NM_006077 exon6 c.109062+233insT 0.34385 0.625 0.3286 0.6111 Uncertain 10_74452932_GT->- 10 74452932 74452933 GT - indel 572.73 1/1 54 33 0 33 1.0 intronic rs112298026 MCU AU NM_001270680 exon1 c.3+108_3+109delGT 0.650359 0.9315 Uncertain 10_74481066_G->C 10 74481066 74481066 G C snp 108.77 0/1 99 10 6 4 0.4 intronic rs75413674 MCU AU NM_001270680 exon1 c.3+28242G>C 0.0756789 0.2827 Uncertain 10_74671611_C->T 10 74671611 74671611 C T snp 1945.77 1/1 99 69 0 69 1.0 intronic rs3750736 OIT3 AU NM_152635 exon5 c.18041+14C>T 0.345647 0.6002 0.221052 0.3375 0.6251 Uncertain 10_74695287_T->C 10 74695287 74695287 T C snp 354.78 1/1 27 11 0 11 1.0 UTR3 rs2461917 PLA2G12B AU 0.9998 1 Uncertain 10_74714294_G->A 10 74714294 74714294 G A snp 2906.77 0/1 99 249 126 123 0.49 exonic rs147351134 PLA2G12B AU synonymous SNV NM_032562 exon1 c.C150T p.F50F 0.00459265 0.0228 0.000077 0.0015 0.0204 Uncertain 10_74773825_A->G 10 74773825 74773825 A G snp 56.74 1/1 6 2 0 2 1.0 intronic rs41315002 P4HA1 AU NM_000917 exon4 c.6002-156A>G 0.177915 0.3036 Uncertain 10_74776489_C->T 10 74776489 74776489 C T snp 712.77 1/1 54 24 0 24 1.0 intronic rs2394929 P4HA1 AU NM_000917 exon5 c.8624-114C>T 0.136981 0.2996 Uncertain 10_74776781_A->G 10 74776781 74776781 A G snp 182.9 1/1 15 6 0 6 1.0 intronic rs7085141 P4HA1 AU NM_000917 exon5 c.8674+128A>G 0.236222 0.3036 Uncertain 10_74804932_C->A 10 74804932 74804932 C A snp 1506.77 1/1 99 46 0 46 1.0 intronic rs11000499 P4HA1 AU NM_001142595 exon7 c.36830+123C>A 0.177117 0.3056 Uncertain 10_74833729_T->A 10 74833729 74833729 T A snp 93.28 1/1 9 3 0 3 1.0 intronic rs41307512 P4HA1 AU NM_000917 exon13 c.65606+144T>A 0.234824 0.3105 Uncertain 10_74834468_A->G 10 74834468 74834468 A G snp 185.9 1/1 15 6 0 6 1.0 intronic rs6480665 P4HA1 AU NM_000917 exon14 c.66586-97A>G 0.23762 0.3105 Uncertain 10_74834651_T->C 10 74834651 74834651 T C snp 675.77 1/1 48 27 0 27 1.0 UTR5 rs4405231 P4HA1 AU 0.234824 0.3105 0.159203 0.1357 0.3212 Uncertain 10_74874098_T->- 10 74874098 74874098 T - indel 302.9 0/1 14 25 5 20 0.8 intronic rs397844690 NUDT13 AU 0.392971 0.4454 0.3865 0.4599 Uncertain 10_74874262_T->C 10 74874262 74874262 T C snp 536.77 1/1 39 25 0 25 1.0 intronic rs4492736 NUDT13 AU NM_015901 exon2 c.83+56T>C 0.314297 0.371 0.206527 Uncertain 10_74879640_A->G 10 74879640 74879640 A G snp 466.77 1/1 36 15 0 15 1.0 intronic rs3750734 NUDT13 AU NM_015901 exon3 c.5652-135A>G 0.235423 0.3145 Uncertain 10_74883845_C->- 10 74883845 74883845 C - indel 220.77 1/1 21 7 0 7 1.0 intronic rs11355471 NUDT13 AU NM_015901 exon5 c.9848-126delC 0.235224 0.3145 Uncertain 10_74886393_C->- 10 74886393 74886393 C - indel 1405.73 1/1 99 34 0 34 1.0 intronic rs3833730 NUDT13 AU NM_001283019 exon7 c.1275-37delC 0.235224 0.3145 0.159105 0.1341 0.3195 Uncertain 10_74886598_C->G 10 74886598 74886598 C G snp 3348.77 1/1 99 121 0 121 1.0 intronic rs7072086 NUDT13 AU NM_001283019 exon7 c.1430+13C>G 0.294329 0.371 0.200984 0.1512 0.3622 Uncertain 10_74890321_T->G 10 74890321 74890321 T G snp 56.74 1/1 6 2 0 2 1.0 intronic rs16930362 NUDT13 AU NM_001283019 exon8 c.5305-139T>G 0.138978 0.3135 Uncertain 10_74890449_T->A 10 74890449 74890449 T A snp 1051.77 1/1 75 39 0 39 1.0 intronic rs7083730 NUDT13 AU NM_001283019 exon8 c.5305-11T>A 0.176717 0.3135 0.094649 0.1138 0.3184 Uncertain 10_74894258_T->C 10 74894258 74894258 T C snp 766.77 1/1 57 25 1 24 0.96 downstream rs2271903 ECD AU 0.235623 0.3145 Uncertain 10_74894375_T->C 10 74894375 74894375 T C snp 3073.77 1/1 99 118 2 116 0.98 exonic rs2271904 ECD AU nonsynonymous SNV NM_001135753 exon13 c.A1772G p.D591G 0.177716 0.3145 0.095033 0.1138 0.3175 0.15 T 1.000 P -1.008 T 1.0 D 0.983 D Pathogenic 10_74896664_T->C 10 74896664 74896664 T C snp 1318.77 1/1 96 42 0 42 1.0 exonic rs36152134 ECD AU nonsynonymous SNV NM_001135753 exon12 c.A1373G p.N458S 0.176518 0.3145 0.094956 0.1134 0.3189 0.7 T 0.0 P -0.913 T 0.001 T 0.015 T Pathogenic 10_74897691_A->C 10 74897691 74897691 A C snp 1704.77 1/1 99 65 0 65 1.0 intronic rs12260168 ECD AU NM_007265 exon3 c.3420-69A>C 0.235623 0.3145 Uncertain 10_74897816_C->T 10 74897816 74897816 C T snp 870.77 1/1 63 29 0 29 1.0 exonic rs2271905 ECD AU synonymous SNV NM_001135753 exon11 c.G1305A p.E435E 0.235623 0.3145 0.156466 0.1512 0.3363 Uncertain 10_74899111_A->G 10 74899111 74899111 A G snp 1782.77 0/1 99 132 55 77 0.58 exonic rs3736517 ECD AU synonymous SNV NM_001135753 exon10 c.T1248C p.A416A 0.0465256 0.1726 0.000384 0.0225 0.1995 Uncertain 10_74899134_C->G 10 74899134 74899134 C G snp 3928.77 1/1 99 143 0 143 1.0 exonic rs3736518 ECD AU nonsynonymous SNV NM_001135753 exon10 c.G1225C p.E409Q 0.235623 0.3145 0.157696 0.1334 0.3190 0.63 T 0.000 P -0.919 T 0.0 T 0.006 T Pathogenic 10_74899607_G->T 10 74899607 74899607 G T snp 50.74 1/1 6 2 0 2 1.0 intronic rs74682773 ECD AU NM_007265 exon5 c.5155+112G>T 0.236621 0.3562 Uncertain 10_74912004_T->C 10 74912004 74912004 T C snp 3149.77 1/1 99 120 0 120 1.0 intronic rs7069878 ECD AU NM_007265 exon8 c.17710-46T>C 0.235823 0.3145 0.157543 0.1334 0.3192 Uncertain 10_74914256_T->G 10 74914256 74914256 T G snp 1082.77 1/1 78 42 0 42 1.0 intronic rs11000530 ECD AU NM_007265 exon9 c.19866+50T>G 0.235423 0.3145 0.151506 0.1503 0.3701 Uncertain 10_74914302_A->T 10 74914302 74914302 A T snp 476.77 1/1 36 16 0 16 1.0 intronic rs11000531 ECD AU NM_007265 exon9 c.19866+96A>T 0.235423 0.3145 Uncertain 10_74916002_T->G 10 74916002 74916002 T G snp 1337.77 1/1 96 43 0 43 1.0 intronic rs12240976 ECD AU NM_007265 exon10 c.21692-30T>G 0.177516 0.3145 0.095033 0.1093 0.3195 Uncertain 10_74916173_T->A 10 74916173 74916173 T A snp 4252.77 1/1 99 158 0 158 1.0 exonic rs12241093 ECD AU synonymous SNV NM_001135752 exon5 c.A450T p.A150A 0.177516 0.3145 0.095033 0.1140 0.3182 Uncertain 10_74920436_C->T 10 74920436 74920436 C T snp 630.77 1/1 48 19 0 19 1.0 intronic rs12260139 ECD AU NM_007265 exon12 c.25969+127C>T 0.235623 0.3145 Uncertain 10_74923562_C->T 10 74923562 74923562 C T snp 3923.77 1/1 99 142 0 142 1.0 exonic rs3812619 ECD AU nonsynonymous SNV NM_001135752 exon2 c.G134A p.R45Q 0.235823 0.3145 0.157620 0.1335 0.3187 0.32 T 0.096 P -0.892 T 0.0 T 0.002 T Pathogenic 10_74923791_C->T 10 74923791 74923791 C T snp 754.77 1/1 57 19 0 19 1.0 intronic rs11000536 ECD AU NM_007265 exon13 c.29368+83C>T 0.235623 0.3145 Uncertain 10_74934442_C->T 10 74934442 74934442 C T snp 516.77 1/1 39 17 0 17 1.0 splicing rs61290608 FAM149B1 AU NM_173348 exon2 c.6347-2C>T 0.235623 0.3135 0.153964 0.1650 0.3312 Pathogenic 10_74953412_C->G 10 74953412 74953412 C G snp 2216.77 1/1 99 88 1 87 0.99 intronic rs77363306 FAM149B1 AU NM_173348 exon5 c.25254+61C>G 0.138978 0.3125 Uncertain 10_74968564_A->C 10 74968564 74968564 A C snp 1648.77 1/1 99 69 0 69 1.0 intronic rs3736519 FAM149B1 AU NM_173348 exon6 c.40447+20A>C 0.139177 0.3175 0.060719 0.1342 0.3395 Uncertain 10_74990127_A->T 10 74990127 74990127 A T snp 3509.77 1/1 99 116 0 116 1.0 intronic rs12570053 FAM149B1 AU NM_173348 exon9 c.62082-52A>T 0.176717 0.3175 Uncertain 10_74992614_T->C 10 74992614 74992614 T C snp 54.74 1/1 6 2 0 2 1.0 intronic rs2292948 FAM149B1 AU NM_173348 exon10 c.64599-82T>C 0.135383 0.3155 Uncertain 10_74992983_A->G 10 74992983 74992983 A G snp 620.77 1/1 45 21 0 21 1.0 intronic rs2292949 FAM149B1 AU NM_173348 exon10 c.64824+62A>G 0.176917 0.3175 Uncertain 10_74994513_T->C 10 74994513 74994513 T C snp 3574.77 1/1 99 122 0 122 1.0 intronic rs2241968 FAM149B1 AU NM_173348 exon11 c.66477-61T>C 0.176518 0.3155 Uncertain 10_74995086_C->T 10 74995086 74995086 C T snp 565.77 1/1 42 16 0 16 1.0 intronic rs2271910 FAM149B1 AU NM_173348 exon12 c.66979+10C>T 0.176518 0.3155 0.094612 0.1370 0.3291 Uncertain 10_74998993_G->T 10 74998993 74998993 G T snp 1903.77 1/1 99 75 0 75 1.0 intronic rs2271911 FAM149B1 AU NM_173348 exon13 c.70972-76G>T 0.176318 0.3175 Uncertain 10_74999361_A->G 10 74999361 74999361 A G snp 180.9 1/1 15 5 0 5 1.0 intronic rs7906093 FAM149B1 AU NM_173348 exon13 c.71045+219A>G 0.176917 0.3185 Uncertain 10_75000698_T->C 10 75000698 75000698 T C snp 2339.77 1/1 99 86 0 86 1.0 splicing rs11000561 FAM149B1 AU NM_173348 exon14 c.72606-5T>C 0.190895 0.3175 0.101840 0.1414 0.3344 Pathogenic 10_75000739_G->A 10 75000739 75000739 G A snp 2583.77 1/1 99 107 0 107 1.0 exonic rs12573841 FAM149B1 AU nonsynonymous SNV NM_173348 exon14 c.G1711A p.G571R 0.240016 0.4107 0.1311 0.3612 1 T 1.000 P -1.022 T 0.001 T 0.001 T Pathogenic 10_75000937_A->G 10 75000937 75000937 A G snp 356.78 1/1 27 12 0 12 1.0 UTR3 rs3763725 FAM149B1 AU 0.179513 0.3185 Uncertain 10_75005552_G->A 10 75005552 75005552 G A snp 1732.77 1/1 99 51 0 51 1.0 intronic rs16930454 DNAJC9 AU NM_015190 exon3 c.2522-127G>A 0.177316 0.3105 Uncertain 10_75006116_T->- 10 75006116 75006116 T - indel 174.87 1/1 15 5 0 5 1.0 intronic rs11338543 DNAJC9 AU NM_015190 exon3 c.2777+182delT 0.229433 0.3105 Uncertain 10_75006437_G->A 10 75006437 75006437 G A snp 5407.77 1/1 99 214 0 214 1.0 intronic rs16930457 DNAJC9 AU NM_015190 exon4 c.3288-8G>A 0.177316 0.3105 0.094726 0.1134 0.3178 Uncertain 10_75006804_A->G 10 75006804 75006804 A G snp 1110.77 1/1 84 35 0 35 1.0 exonic rs35302968 DNAJC9 AU synonymous SNV NM_015190 exon1 c.T144C p.G48G 0.23123 0.3105 0.134648 0.2220 0.3878 Uncertain 10_75007138_C->A 10 75007138 75007138 C A snp 3248.77 0/1 99 250 115 135 0.54 ncRNA_exonic DNAJC9-AS1 AU 0 D 1 N -0.967 T Uncertain 10_75007275_A->C 10 75007275 75007275 A C snp 3145.77 1/1 99 108 0 108 1.0 ncRNA_intronic rs14488 DNAJC9-AS1 AU 0.177316 0.3105 0.1885 0.3409 Uncertain 10_75007418_C->A 10 75007418 75007418 C A snp 180.9 1/1 15 5 0 5 1.0 ncRNA_intronic rs16930460 DNAJC9-AS1 AU 0.177316 0.3105 Uncertain 10_75007939_T->C 10 75007939 75007939 T C snp 1951.77 1/1 99 59 0 59 1.0 ncRNA_intronic rs41299242 DNAJC9-AS1 AU 0.134385 0.3105 Uncertain 10_75008561_T->C 10 75008561 75008561 T C snp 2151.77 1/1 99 80 0 80 1.0 ncRNA_intronic rs1064020 DNAJC9-AS1 AU 0.316494 0.3968 Uncertain 10_75009107_T->A 10 75009107 75009107 T A snp 623.77 1/1 45 23 0 23 1.0 ncRNA_intronic rs2018198 DNAJC9-AS1 AU 0.164936 0.3105 0.1488 0.3313 Uncertain 10_75011942_G->C 10 75011942 75011942 G C snp 388.77 1/1 30 11 0 11 1.0 ncRNA_intronic rs2271907 DNAJC9-AS1 AU 0.168131 0.3125 Uncertain 10_75012122_A->G 10 75012122 75012122 A G snp 792.77 1/1 57 30 0 30 1.0 ncRNA_intronic rs2271908 DNAJC9-AS1 AU 0.134385 0.3105 Uncertain 10_75013884_CT->- 10 75013884 75013885 CT - indel 1911.73 1/1 99 42 0 42 1.0 ncRNA_intronic rs3830554 DNAJC9-AS1 AU 0.177516 0.3105 Uncertain 10_75015930_C->T 10 75015930 75015930 C T snp 328.78 1/1 27 9 0 9 1.0 ncRNA_intronic rs16930480 DNAJC9-AS1 AU 0.177516 0.3105 Uncertain 10_75016364_T->A 10 75016364 75016364 T A snp 182.9 1/1 15 5 0 5 1.0 ncRNA_intronic rs12240570 DNAJC9-AS1 AU 0.175919 0.3075 Uncertain 10_75016365_T->A 10 75016365 75016365 T A snp 180.9 1/1 15 5 0 5 1.0 ncRNA_intronic rs12240572 DNAJC9-AS1 AU 0.199081 0.3988 Uncertain 10_75032856_T->- 10 75032856 75032856 T - indel 861.73 1/1 60 21 0 21 1.0 ncRNA_intronic rs113263844 DNAJC9-AS1 AU 0.177316 0.3105 Uncertain 10_75032930_C->T 10 75032930 75032930 C T snp 44.74 1/1 6 2 0 2 1.0 ncRNA_intronic rs11000581 DNAJC9-AS1 AU 0.177316 0.3105 Uncertain 10_75034177_T->C 10 75034177 75034177 T C snp 4221.77 1/1 99 153 2 151 0.99 ncRNA_intronic rs59726024 DNAJC9-AS1 AU 0.177316 0.3105 0.094726 0.1149 0.3187 Uncertain 10_75035257_T->C 10 75035257 75035257 T C snp 3917.77 1/1 99 145 0 145 1.0 exonic rs4294502 CFAP70 AU nonsynonymous SNV NM_145170 exon23 c.A2830G p.N944D 0.229433 0.3105 0.153775 0.1321 0.3192 1 T 0.000 P -1.038 T 0.0 T 0.0 T Pathogenic 10_75036859_A->G 10 75036859 75036859 A G snp 634.77 1/1 48 16 0 16 1.0 intronic rs3812621 CFAP70 AU NM_145170 exon7 c.23265-138A>G 0.177516 0.3105 Uncertain 10_75036973_C->T 10 75036973 75036973 C T snp 3824.77 1/1 99 142 0 142 1.0 intronic rs77183525 CFAP70 AU NM_145170 exon7 c.23265-24C>T 0.177516 0.3105 0.094726 0.1140 0.3173 Uncertain 10_75053203_T->- 10 75053203 75053203 T - indel 3609.73 1/1 99 95 0 95 1.0 intronic rs11317044 CFAP70 AU NM_145170 exon12 c.39414+57delT 0.177716 0.3105 Uncertain 10_75056637_G->A 10 75056637 75056637 G A snp 56.74 1/1 6 2 0 2 1.0 intronic rs6480690 CFAP70 AU NM_145170 exon13 c.43067-162G>A 0.177716 0.3105 Uncertain 10_75056737_T->C 10 75056737 75056737 T C snp 2080.77 1/1 99 72 0 72 1.0 intronic rs6480691 CFAP70 AU NM_145170 exon13 c.43067-62T>C 0.177716 0.3105 0.1092 0.3193 Uncertain 10_75056863_A->C 10 75056863 75056863 A C snp 4527.77 1/1 99 165 0 165 1.0 exonic rs6480692 CFAP70 AU synonymous SNV NM_145170 exon16 c.T1791G p.L597L 0.177716 0.3105 0.094726 0.1138 0.3185 Uncertain 10_75058601_G->C 10 75058601 75058601 G C snp 1986.77 1/1 99 62 0 62 1.0 intronic rs7079020 CFAP70 AU NM_145170 exon14 c.44932-63G>C 0.177716 0.3105 Uncertain 10_75059331_A->T 10 75059331 75059331 A T snp 1482.77 1/1 99 62 1 61 0.98 intronic rs10824001 CFAP70 AU NM_145170 exon15 c.45626-27A>T 0.174121 0.3105 0.092111 0.1129 0.3184 Uncertain 10_75059463_A->T 10 75059463 75059463 A T snp 219.84 1/1 18 8 0 8 1.0 intronic rs11000589 CFAP70 AU NM_145170 exon15 c.45691+40A>T 0.177716 0.3105 0.066337 0.1176 0.3396 Uncertain 10_75069872_T->C 10 75069872 75069872 T C snp 6000.77 1/1 99 228 0 228 1.0 intronic rs11000598 CFAP70 AU NM_145170 exon16 c.56183-43T>C 0.178115 0.3105 0.094726 0.1144 0.3191 Uncertain 10_75071412_A->G 10 75071412 75071412 A G snp 96.28 1/1 9 3 0 3 1.0 intronic rs7090009 CFAP70 AU NM_145170 exon17 c.57859-179A>G 0.178115 0.3105 Uncertain 10_75071418_C->T 10 75071418 75071418 C T snp 135.03 1/1 12 4 0 4 1.0 intronic rs7090121 CFAP70 AU NM_145170 exon17 c.57859-173C>T 0.229433 0.3105 Uncertain 10_75071579_C->T 10 75071579 75071579 C T snp 4882.77 1/1 99 183 4 179 0.98 intronic rs10159494 CFAP70 AU NM_145170 exon17 c.57859-12C>T 0.178115 0.3105 0.094726 0.1143 0.3177 Uncertain 10_75071795_T->C 10 75071795 75071795 T C snp 582.77 1/1 45 16 0 16 1.0 intronic rs76816562 CFAP70 AU NM_145170 exon17 c.57940+123T>C 0.178115 0.3105 Uncertain 10_75072066_G->A 10 75072066 75072066 G A snp 139.03 1/1 12 4 0 4 1.0 intronic rs113572486 CFAP70 AU NM_145170 exon18 c.58498-164G>A 0.178115 0.3105 Uncertain 10_75072118_T->C 10 75072118 75072118 T C snp 593.77 1/1 45 21 0 21 1.0 intronic rs111513985 CFAP70 AU NM_145170 exon18 c.58498-112T>C 0.178115 0.3105 Uncertain 10_75072199_G->C 10 75072199 75072199 G C snp 1218.77 1/1 87 46 0 46 1.0 intronic rs78977914 CFAP70 AU NM_145170 exon18 c.58498-31G>C 0.178115 0.3105 0.094726 0.1144 0.3182 Uncertain 10_75082642_A->T 10 75082642 75082642 A T snp 167.77 0/1 99 21 12 9 0.43 intronic rs75902493 CFAP70 AU NM_145170 exon19 c.68988-78A>T 0.0061901 0.0298 Uncertain 10_75082959_A->T 10 75082959 75082959 A T snp 3090.77 1/1 99 101 0 101 1.0 intronic rs12240326 CFAP70 AU NM_145170 exon19 c.69123+104A>T 0.178115 0.3105 Uncertain 10_75090820_C->A 10 75090820 75090820 C A snp 576.77 1/1 45 17 0 17 1.0 intronic rs12259183 CFAP70 AU NM_145170 exon20 c.77202-114C>A 0.178115 0.3105 Uncertain 10_75095253_G->A 10 75095253 75095253 G A snp 4011.77 1/1 99 166 0 166 1.0 exonic rs7910541 CFAP70 AU synonymous SNV NM_145170 exon8 c.C822T p.C274C 0.178115 0.3105 0.094726 0.1143 0.3162 Uncertain 10_75095349_G->A 10 75095349 75095349 G A snp 907.77 1/1 69 26 0 26 1.0 intronic rs7910669 CFAP70 AU NM_145170 exon21 c.81550+67G>A 0.178115 0.3105 Uncertain 10_75108146_T->G 10 75108146 75108146 T G snp 4695.77 1/1 99 173 0 173 1.0 intronic rs3812622 CFAP70 AU NM_145170 exon25 c.94448-34T>G 0.290935 0.372 0.198293 0.1528 0.3717 Uncertain 10_75142791_C->G 10 75142791 75142791 C G snp 420.77 1/1 33 13 0 13 1.0 intronic rs76521614 ANXA7 AU NM_004034 exon5 c.7080-141C>G 0.136182 0.3016 Uncertain 10_75147544_-->GAA 10 75147544 75147544 - GAA indel 8528.73 1/1 99 173 1 172 0.99 splicing rs3834898 ANXA7 AU NM_004034 exon7 c.11689+3insGAA 0.176717 0.3026 0.093850 0.1125 0.3145 Pathogenic 10_75147579_C->T 10 75147579 75147579 C T snp 3577.77 1/1 99 115 0 115 1.0 intronic rs16930547 ANXA7 AU NM_004034 exon7 c.11689+38C>T 0.176717 0.3026 0.094034 0.1125 0.3146 Uncertain 10_75148116_A->G 10 75148116 75148116 A G snp 4798.77 1/1 99 185 0 185 1.0 exonic rs2234965 ANXA7 AU synonymous SNV NM_001156 exon6 c.T492C p.D164D 0.176518 0.3026 0.094034 0.1126 0.3144 Uncertain 10_75155481_G->A 10 75155481 75155481 G A snp 91.28 1/1 9 4 0 4 1.0 intronic rs7096834 ANXA7 AU NM_004034 exon9 c.19949-320G>A 0.176717 0.3026 Uncertain 10_75155545_A->- 10 75155545 75155545 A - indel 343.06 1/1 11 25 3 22 0.88 intronic rs10718150 ANXA7 AU NM_004034 exon9 c.19949-256delA Uncertain 10_75155680_C->T 10 75155680 75155680 C T snp 1955.77 1/1 99 77 0 77 1.0 intronic rs7096875 ANXA7 AU NM_004034 exon9 c.19949-121C>T 0.176717 0.3026 0.081147 0.1715 0.3979 Uncertain 10_75155997_G->A 10 75155997 75155997 G A snp 3018.77 1/1 99 111 0 111 1.0 intronic rs7100800 ANXA7 AU NM_004034 exon9 c.20015+130G>A 0.226637 0.3026 Uncertain 10_75156036_C->T 10 75156036 75156036 C T snp 1760.77 1/1 99 61 0 61 1.0 intronic rs7100670 ANXA7 AU NM_004034 exon9 c.20015+169C>T 0.226837 0.3026 Uncertain 10_75156152_T->C 10 75156152 75156152 T C snp 847.77 1/1 63 29 0 29 1.0 intronic rs59154127 ANXA7 AU NM_004034 exon10 c.20424-124T>C 0.176717 0.3026 Uncertain 10_75160439_C->T 10 75160439 75160439 C T snp 1007.77 1/1 75 33 0 33 1.0 intronic rs74739037 ANXA7 AU NM_004034 exon13 c.24708-121C>T 0.132788 0.3026 Uncertain 10_75160478_A->T 10 75160478 75160478 A T snp 1753.77 1/1 99 57 0 57 1.0 intronic rs12243497 ANXA7 AU NM_004034 exon13 c.24708-82A>T 0.227037 0.3026 Uncertain 10_75186612_G->C 10 75186612 75186612 G C snp 327.78 1/1 27 9 0 9 1.0 intronic rs2297452 MSS51 AU NM_001024593 exon4 c.2179+123G>C 0.269169 0.3026 Uncertain 10_75189586_C->T 10 75189586 75189586 C T snp 297.78 1/1 24 9 0 9 1.0 intronic rs1332178 MSS51 AU NM_001024593 exon6 c.3749+1527C>T 0.225439 0.3016 Uncertain 10_75214138_A->- 10 75214138 75214138 A - indel 1077.73 1/1 99 39 0 39 1.0 intronic rs61458056 PPP3CB AU NM_001289969 exon3 c.9812-31delA 0.219848 0.3254 0.2520 0.4270 Uncertain 10_75234826_C->T 10 75234826 75234826 C T snp 564.77 1/1 42 19 0 19 1.0 intronic rs3763679 PPP3CB AU NM_001289969 exon9 c.30431+38C>T 0.225439 0.2996 0.145859 0.1343 0.3253 Uncertain 10_75283640_T->A 10 75283640 75283640 T A snp 143.03 1/1 12 5 0 5 1.0 intronic rs9703377 USP54 AU NM_152586 exon8 c.25122+132T>A Uncertain 10_75283641_A->T 10 75283641 75283641 A T snp 143.03 1/1 12 5 0 5 1.0 intronic rs9703929 USP54 AU NM_152586 exon8 c.25122+133A>T Uncertain 10_75289244_G->C 10 75289244 75289244 G C snp 1146.77 1/1 84 33 0 33 1.0 intronic rs78581136 USP54 AU NM_152586 exon10 c.31051-193G>C 0.135184 0.3006 0.2943 0.4581 Uncertain 10_75289359_C->A 10 75289359 75289359 C A snp 3651.77 1/1 99 136 0 136 1.0 intronic rs12255505 USP54 AU NM_152586 exon10 c.31051-78C>A 0.267772 0.3006 0.1441 0.3183 Uncertain 10_75335161_C->G 10 75335161 75335161 C G snp 321.77 0/1 99 31 18 13 0.42 intronic rs79748562 USP54 AU NM_152586 exon22 c.76883-108C>G 0.0688898 0.1925 Uncertain 10_75391823_C->A 10 75391823 75391823 C A snp 727.77 0/1 99 64 30 34 0.53 exonic rs41280400 MYOZ1 AU synonymous SNV NM_021245 exon6 c.G765T p.L255L 0.0642971 0.1429 0.033523 0.0514 0.1199 Uncertain 10_75404673_A->T 10 75404673 75404673 A T snp 1030.77 0/1 99 72 34 38 0.53 UTR3 rs117050535 SYNPO2L AU 0.00359425 0.0179 Uncertain 10_75407665_A->G 10 75407665 75407665 A G snp 1357.77 0/1 99 112 55 57 0.51 exonic rs753777568 SYNPO2L AU nonsynonymous SNV NM_024875 exon2 c.T1073C p.I358T 2.064e-05 0.0003 0.58 T 0.866 D -1.050 T 0.15 T 0.033 T Pathogenic 10_75407887_G->T 10 75407887 75407887 G T snp 908.77 0/1 99 80 38 42 0.53 exonic rs57006992 SYNPO2L AU nonsynonymous SNV NM_024875 exon2 c.C851A p.P284H 0.0764776 0.0089 0.074329 0.0336 0.0180 0.03 T 0.999 P -1.043 T 0.4 T 0.225 T Pathogenic 10_75490217_T->C 10 75490217 75490217 T C snp 227.84 1/1 18 7 0 7 1.0 ncRNA_exonic rs11814282 BMS1P4 AU 0.352436 0.1181 Uncertain 10_75519322_T->C 10 75519322 75519322 T C snp 4553.77 1/1 99 166 0 166 1.0 intronic rs10740418 SEC24C AU NM_198597 exon4 c.12789-57T>C 0.490016 0.2351 Uncertain 10_75519741_T->G 10 75519741 75519741 T G snp 1208.77 0/1 99 100 47 53 0.53 intronic rs191099457 SEC24C AU NM_198597 exon5 c.13185-34T>G 0.00339457 0.0089 0.000233 0.0019 0.0150 Uncertain 10_75525999_A->G 10 75525999 75525999 A G snp 3466.77 1/1 99 124 0 124 1.0 intronic rs3849969 SEC24C AU NM_198597 exon11 c.19378+31A>G 0.488419 0.2351 0.680532 0.6215 0.2566 Uncertain 10_75532849_CCAGGACTCCAGGTGTCCAGGACTCCAGGTGT->- 10 75532849 75532880 CCAGGACTCCAGGTGTCCAGGACTCCAGGTGT - indel 5794.73 1/1 99 47 0 47 1.0 intronic rs145929404 FUT11 AU NM_001284194 exon1 c.708+50_856-67delCCAGGACTCCAGGTGTCCAGGACTCCAGGTGT 0.292133 0.0813 0.469221 0.4359 0.0832 Uncertain 10_75545251_A->G 10 75545251 75545251 A G snp 643.77 1/1 48 22 0 22 1.0 upstream rs12256103 ZSWIM8 AU 0.495807 0.2361 Uncertain 10_75558867_G->A 10 75558867 75558867 G A snp 4095.77 1/1 99 145 0 145 1.0 exonic rs2271271 ZSWIM8 AU synonymous SNV NM_001242487 exon21 c.G4269A p.L1423L 0.487819 0.2351 0.688539 0.6264 0.2636 1.000 P -1.011 T Likely benign 10_75559662_-->TCTA 10 75559662 75559662 - TCTA indel 2934.73 1/1 99 45 0 45 1.0 ncRNA_intronic rs141230821 ZSWIM8-AS1 AU 0.300519 0.0794 Uncertain 10_75565332_G->T 10 75565332 75565332 G T snp 660.77 0/1 99 59 33 26 0.44 intronic rs77706975 NDST2 AU NM_003635 exon8 c.3136-12G>T 0.0177716 0.0089 0.012840 0.0058 0.0171 Uncertain 10_75607168_T->C 10 75607168 75607168 T C snp 989.77 0/1 99 80 40 40 0.5 intronic rs2242258 CAMK2G AU NM_001204492 exon12 c.32333+63T>C 0.515375 0.7063 Uncertain 10_75607697_A->- 10 75607697 75607697 A - indel 1532.73 1/1 99 37 0 37 1.0 intronic rs398014130 CAMK2G AU NM_001204492 exon13 c.32973-48delA 0.988219 0.9583 0.999361 0.9940 0.9583 Uncertain 10_75612881_T->C 10 75612881 75612881 T C snp 1065.77 0/1 99 74 35 39 0.53 intronic rs2250140 CAMK2G AU NM_001204492 exon18 c.38177-68T>C 0.316893 0.1121 0.496715 Uncertain 10_75620757_T->C 10 75620757 75620757 T C snp 1200.77 0/1 99 81 32 49 0.6 intronic rs2664282 CAMK2G AU NM_001204492 exon19 c.45875+110T>C 0.284944 0.1121 Uncertain 10_75632760_C->T 10 75632760 75632760 C T snp 1004.77 0/1 99 103 54 49 0.48 exonic rs2675671 CAMK2G AU synonymous SNV NM_172171 exon2 c.G147A p.K49K 0.284345 0.1121 0.464324 0.4341 0.1031 Uncertain 10_75672961_G->A 10 75672961 75672961 G A snp 914.77 0/1 99 68 32 36 0.53 intronic rs2227562 C10orf55 AU NM_001001791 exon3 c.1391+128G>A 0.167133 0.2937 Uncertain 10_75673101_T->C 10 75673101 75673101 T C snp 1819.77 0/1 99 207 124 83 0.4 exonic rs2227564 PLAU AD nonsynonymous SNV NM_002658 exon6 c.T422C p.L141P 0.775359 0.6349 0.838690 0.7546 0.6450 0.2 T 0.370 P -1.003 T 0.723 T 0.797 P CLINSIG=other;CLNDBN=Alzheimer_disease\x2c_late-onset\x2c_susceptibility_to;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000013052.1;CLNDSDB=MedGen;CLNDSDBID=C1834153 ID=CM035594;DIS=Alzheimer disease, late onset, protection against;TAG=DP;PUB=12898287 DP Pathogenic 10_75673879_C->T 10 75673879 75673879 C T snp 780.77 0/1 99 61 31 30 0.49 exonic rs2227568 PLAU AD synonymous SNV NM_002658 exon8 c.C822T p.N274N 0.164936 0.2937 0.133631 0.1697 0.3176 Uncertain 10_75842152_G->A 10 75842152 75842152 G A snp 2306.77 1/1 99 88 0 88 1.0 intronic rs2270548 VCL AU NM_014000 exon7 c.84246-59G>A 0.511182 0.7748 Uncertain 10_75843100_T->A 10 75843100 75843100 T A snp 1801.77 1/1 99 72 0 72 1.0 intronic rs1908339 VCL AU NM_014000 exon8 c.85158-23T>A 0.780751 0.9802 0.636552 0.6445 0.9832 ID=CS026021;DIS=Cardiomyopathy, dilated;TAG=DM?;PUB=20474083 DM? Uncertain 10_76429870_T->C 10 76429870 76429870 T C snp 5914.77 1/1 99 220 0 220 1.0 intronic rs10740443 ADK AR NM_001202450 exon9 c.518904-70T>C 0.692492 0.7173 Uncertain 10_76854564_C->T 10 76854564 76854564 C T snp 4813.77 1/1 99 186 0 186 1.0 exonic rs3088142 DUSP13 AU nonsynonymous SNV NM_001007272 exon4 c.G617A p.C206Y 0.641773 0.9028 0.504844 0.5191 0.9114 1 T 0.022 P -0.984 T 0.052 T 0.015 T Pathogenic 10_76855326_A->G 10 76855326 76855326 A G snp 1281.77 1/1 93 42 0 42 1.0 intronic rs3740318 DUSP13 AU NM_016364 exon2 c.899-6A>G 0.426318 0.6379 0.322467 0.3398 0.6714 Uncertain 10_76855412_G->A 10 76855412 76855412 G A snp 3433.77 1/1 99 132 0 132 1.0 exonic rs3740317 DUSP13 AU synonymous SNV NM_001007272 exon3 c.C465T p.D155D 0.421326 0.6379 0.318853 0.3380 0.6715 Uncertain 10_76857364_C->G 10 76857364 76857364 C G snp 3796.77 1/1 99 123 0 123 1.0 intronic rs3824742 DUSP13 AU NM_016364 exon3 c.3036-105C>G 0.333866 0.5804 Uncertain 10_76857716_A->G 10 76857716 76857716 A G snp 219.84 1/1 18 7 0 7 1.0 intronic rs3740315 DUSP13 AU NM_016364 exon3 c.3210+73A>G 0.33127 0.5813 Uncertain 10_76861680_T->C 10 76861680 76861680 T C snp 1465.77 1/1 99 49 0 49 1.0 exonic rs6480771 DUSP13 AU nonsynonymous SNV NM_001007273 exon3 c.A223G p.S75G 0.670128 0.8998 0.532216 0.5287 0.9108 0.41 T 0.0 P -1.075 T 0.0 T 0.0 T Pathogenic 10_76867899_T->C 10 76867899 76867899 T C snp 1582.77 1/1 99 49 0 49 1.0 exonic rs7912300 DUSP13 AU nonsynonymous SNV NM_001007271 exon2 c.A218G p.K73R 0.453474 0.6438 0.337857 0.3510 0.6721 0.14 T 1.0 P -0.912 T 0.003 T 0.005 T Pathogenic 10_76971844_C->T 10 76971844 76971844 C T snp 431.77 1/1 33 12 0 12 1.0 intronic rs2804535 VDAC2 AU NM_003375 exon3 c.1071-143C>T 0.673323 0.9206 Uncertain 10_77191441_C->A 10 77191441 77191441 C A snp 217.77 0/1 99 18 9 9 0.5 intergenic rs55922628 LOC101929234 AU 0.43131 0.5675 0.6235 0.625 Uncertain 10_77312184_C->T 10 77312184 77312184 C T snp 3068.77 1/1 99 120 0 120 1.0 upstream rs1367290 MIR606 AU 0.47504 0.6151 0.4527 0.5226 Uncertain 10_78649399_C->T 10 78649399 78649399 C T snp 4293.77 1/1 99 168 1 167 0.99 ncRNA_intronic rs2288840 KCNMA1-AS1 AU 0.557907 0.4593 Uncertain 10_78729669_A->G 10 78729669 78729669 A G snp 264.8 1/1 21 8 0 8 1.0 ncRNA_intronic rs2288837 KCNMA1-AS1 AU 0.855831 0.9841 Uncertain 10_78737295_G->A 10 78737295 78737295 G A snp 6286.77 1/1 99 244 0 244 1.0 ncRNA_intronic rs11001956 KCNMA1-AS1 AU 0.0808706 0.2629 0.0388 0.29 Uncertain 10_78839127_-->GT 10 78839127 78839127 - GT indel 288.73 0/1 47 11 2 9 0.82 intronic rs139730603 KCNMA1 AD NM_001161353 exon16 c.192215-111insGT 0.227236 0.3313 Uncertain 10_78868166_AAA->- 10 78868166 78868168 AAA - indel 1601.73 1/1 95 53 1 52 0.98 intronic rs138226779 KCNMA1 AD NM_001161353 exon20 c.221215-72_221215-70delAAA 0.599042 0.4038 Uncertain 10_78871968_G->T 10 78871968 78871968 G T snp 1191.77 1/1 87 38 0 38 1.0 intronic rs1347543 KCNMA1 AD NM_001161353 exon22 c.225101-156G>T 0.230831 0.4673 Uncertain 10_79163884_T->C 10 79163884 79163884 T C snp 524.77 0/1 99 30 14 16 0.53 intronic rs11002158 KCNMA1 AD NM_001161353 exon27 c.516758+103T>C 0.138179 0.2073 Uncertain 10_79552092_C->T 10 79552092 79552092 C T snp 451.77 0/1 99 18 5 13 0.72 UTR3 rs2165046 DLG5 AU 0.45028 0.4355 Uncertain 10_79552151_T->C 10 79552151 79552151 T C snp 902.77 0/1 99 52 15 37 0.71 UTR3 rs1058202 DLG5 AU 0.741414 0.7272 0.720744 0.6929 0.7375 Uncertain 10_79553673_T->C 10 79553673 79553673 T C snp 1103.77 0/1 99 105 56 49 0.47 intronic rs2812425 DLG5 AU NM_004747 exon2 c.1568-92T>C 0.757388 0.7272 Uncertain 10_79565655_G->A 10 79565655 79565655 G A snp 391.77 0/1 99 34 18 16 0.47 intronic rs2289311 DLG5 AU NM_004747 exon6 c.13422+36G>A 0.26238 0.1726 0.319622 0.3064 0.1890 Uncertain 10_79566632_G->A 10 79566632 79566632 G A snp 2302.77 0/1 99 243 134 109 0.45 exonic rs1058198 DLG5 AU synonymous SNV NM_004747 exon26 c.C4851T p.D1617D 0.26258 0.1736 0.319699 0.3038 0.1881 Uncertain 10_79571108_C->T 10 79571108 79571108 C T snp 115.77 0/1 99 13 8 5 0.38 intronic rs2289309 DLG5 AU NM_004747 exon10 c.18795+116C>T 0.262181 0.1726 Uncertain 10_79575879_A->G 10 79575879 79575879 A G snp 581.77 0/1 99 73 46 27 0.37 intronic rs1248638 DLG5 AU NM_004747 exon13 c.24111-429A>G 0.752796 0.7272 Uncertain 10_79579047_A->G 10 79579047 79579047 A G snp 1810.77 0/1 99 194 111 83 0.43 intronic rs1248635 DLG5 AU NM_004747 exon16 c.26881-31A>G 0.720048 0.7262 0.689067 0.6750 0.7361 Uncertain 10_79579251_G->A 10 79579251 79579251 G A snp 549.77 0/1 99 43 22 21 0.49 intronic rs2289308 DLG5 AU NM_004747 exon16 c.27026+28G>A 0.220248 0.1726 0.274223 0.3001 0.1941 Uncertain 10_79584178_G->C 10 79584178 79584178 G C snp 762.77 0/1 99 67 32 35 0.52 exonic rs1248629 DLG5 AU synonymous SNV NM_004747 exon14 c.C2346G p.R782R 0.744209 0.7282 0.716285 0.6812 0.7354 Uncertain 10_79589904_C->T 10 79589904 79589904 C T snp 146.77 0/1 99 11 6 5 0.45 intronic rs55854323 DLG5 AU NM_004747 exon22 c.37777-70C>T 0.209864 0.1736 Uncertain 10_79590685_C->T 10 79590685 79590685 C T snp 591.77 0/1 99 47 22 25 0.53 intronic rs10824579 DLG5 AU NM_004747 exon23 c.38434+54C>T 0.324681 0.4355 Uncertain 10_79595417_C->T 10 79595417 79595417 C T snp 74.77 0/1 99 8 5 3 0.38 intronic rs1248661 DLG5 AU NM_004747 exon25 c.43298-78C>T 0.771965 0.7272 Uncertain 10_79614189_A->G 10 79614189 79614189 A G snp 1568.77 0/1 99 136 72 64 0.47 intronic rs1248692 DLG5 AU NM_004747 exon29 c.61931+61A>G 0.76857 0.7431 Uncertain 10_79616605_T->C 10 79616605 79616605 T C snp 978.77 1/1 30 42 2 40 0.95 exonic rs1248696 DLG5 AU nonsynonymous SNV NM_004747 exon3 c.A419G p.Q140R 0.965655 0.998 0.925573 0.9311 0.9994 1 T 0.000 P -0.947 T 0.0 T 0.001 T ID=CM041756;DIS=Inflammatory bowel disease, risk, association with;TAG=DP;PUB=15107852 DP Pathogenic 10_79628875_A->G 10 79628875 79628875 A G snp 683.77 0/1 99 54 24 30 0.56 intronic rs1248655 DLG5 AU NM_004747 exon31 c.76689-11A>G 0.765775 0.745 0.744964 0.7018 0.7476 Uncertain 10_79685833_G->A 10 79685833 79685833 G A snp 40.77 0/1 69 5 3 2 0.4 intronic rs4595491 DLG5 AU NM_004747 exon32 c.133777-141G>A 0.195487 0.1627 Uncertain 10_79742617_G->T 10 79742617 79742617 G T snp 703.77 0/1 99 72 38 34 0.47 intronic rs3781180 POLR3A AR NM_007055 exon5 c.5340+42G>T 0.200479 0.1687 0.180532 0.1169 0.1532 Uncertain 10_79782276_T->C 10 79782276 79782276 T C snp 211.77 0/1 99 14 7 7 0.5 intronic rs2559825 POLR3A AR NM_007055 exon26 c.44907+134T>C 0.741014 0.6994 Uncertain 10_79793688_C->T 10 79793688 79793688 C T snp 2707.77 0/1 99 249 138 111 0.45 intronic rs3740253 RPS24 AU NM_001142283 exon1 c.3+26C>T 0.458666 0.4345 0.500923 0.5671 0.4744 Uncertain 10_80288406_T->G 10 80288406 80288406 T G snp 609.77 0/1 99 77 49 28 0.36 intergenic rs1865706 LINC00595 AU 0.877196 0.5466 Uncertain 10_80310465_T->C 10 80310465 80310465 T C snp 1205.77 0/1 99 109 55 54 0.5 intergenic rs2670191 LINC00595 AU 0.876997 0.5466 Uncertain 10_80310636_G->A 10 80310636 80310636 G A snp 1826.77 0/1 99 193 112 81 0.42 intergenic rs7090749 LINC00595 AU 0.71226 0.4236 Uncertain 10_80763534_A->G 10 80763534 80763534 A G snp 402.77 0/1 99 38 21 17 0.45 ncRNA_intronic rs10762829 ZMIZ1-AS1 AU 0.567692 0.4762 Uncertain 10_80961519_T->C 10 80961519 80961519 T C snp 497.77 0/1 99 45 27 18 0.4 intronic rs2802371 ZMIZ1 AU NM_020338 exon5 c.60+70T>C 0.414736 0.4206 0.455103 Uncertain 10_80968368_C->- 10 80968368 80968368 C - indel 707.73 0/1 99 50 22 28 0.56 intronic rs35380943 ZMIZ1 AU NM_020338 exon6 c.6817+162delC 0.151358 0.2907 Uncertain 10_81037229_G->A 10 81037229 81037229 G A snp 653.77 0/1 99 41 19 22 0.54 intronic rs1250539 ZMIZ1 AU NM_020338 exon8 c.75693+147G>A 0.610224 0.6895 Uncertain 10_81045207_T->C 10 81045207 81045207 T C snp 683.77 0/1 99 39 14 25 0.64 intronic rs1250569 ZMIZ1 AU NM_020338 exon9 c.88142-4324T>C 0.516573 0.4444 0.4781 0.5725 Uncertain 10_81045280_T->C 10 81045280 81045280 T C snp 1873.77 0/1 99 144 61 83 0.58 intronic rs1250568 ZMIZ1 AU NM_020338 exon9 c.88142-4251T>C 0.444289 0.3998 0.4305 0.5362 0 D 0.000 P -0.930 T Uncertain 10_81053475_G->A 10 81053475 81053475 G A snp 2052.77 1/1 99 81 0 81 1.0 intronic rs1250560 ZMIZ1 AU NM_020338 exon12 c.92021+65G>A 0.474641 0.6538 0.4346 0.6815 Uncertain 10_81053560_G->A 10 81053560 81053560 G A snp 511.77 1/1 39 13 0 13 1.0 intronic rs1250559 ZMIZ1 AU NM_020338 exon12 c.92021+150G>A 0.430112 0.6528 0.4740 0.6992 Uncertain 10_81058027_A->G 10 81058027 81058027 A G snp 3536.77 1/1 99 112 0 112 1.0 intronic rs1250552 ZMIZ1 AU NM_020338 exon15 c.96773-135A>G 0.615615 0.7004 Uncertain 10_81060474_T->C 10 81060474 81060474 T C snp 1558.77 1/1 99 55 0 55 1.0 intronic rs1250549 ZMIZ1 AU NM_020338 exon17 c.99099-14T>C 0.590056 0.6944 0.529842 0.5229 0.7162 Uncertain 10_81060752_G->A 10 81060752 81060752 G A snp 931.77 0/1 99 72 36 36 0.5 intronic rs77314359 ZMIZ1 AU NM_020338 exon17 c.99310+53G>A 0.0427316 0.1845 Uncertain 10_81060829_G->A 10 81060829 81060829 G A snp 290.77 0/1 99 15 6 9 0.6 intronic rs1782648 ZMIZ1 AU NM_020338 exon17 c.99310+130G>A 0.360224 0.4157 Uncertain 10_81065201_G->A 10 81065201 81065201 G A snp 1344.77 0/1 99 81 29 52 0.64 intronic rs1250558 ZMIZ1 AU NM_020338 exon21 c.103900-88G>A 0.260184 0.4147 Uncertain 10_81065774_G->T 10 81065774 81065774 G T snp 293.77 0/1 99 19 9 10 0.53 intronic rs1250557 ZMIZ1 AU NM_020338 exon22 c.104467-82G>T 0.613019 0.5655 Uncertain 10_81067040_C->T 10 81067040 81067040 C T snp 230.77 0/1 94 10 3 7 0.7 intronic rs1250554 ZMIZ1 AU NM_020338 exon23 c.105772-121C>T 0.260583 0.4147 Uncertain 10_81067480_C->G 10 81067480 81067480 C G snp 162.77 0/1 99 17 11 6 0.35 intronic rs1972346 ZMIZ1 AU NM_020338 exon23 c.105939+152C>G 0.283347 0.4236 Uncertain 10_81073763_G->C 10 81073763 81073763 G C snp 965.77 1/1 72 28 0 28 1.0 UTR3 rs2997468 ZMIZ1 AU 0.523562 0.4494 0.4749 0.4134 Uncertain 10_81073764_G->A 10 81073764 81073764 G A snp 288.77 0/1 99 28 16 12 0.43 UTR3 rs2985841 ZMIZ1 AU 0.138778 0.1845 0.1662 0.1449 Uncertain 10_81074125_T->A 10 81074125 81074125 T A snp 424.77 1/1 33 12 0 12 1.0 UTR3 rs1782652 ZMIZ1 AU 0.534545 0.4484 Uncertain 10_81108956_A->G 10 81108956 81108956 A G snp 1141.77 0/1 99 62 25 37 0.6 intronic rs2233718 PPIF AU NM_005729 exon2 c.1558+94A>G 0.51238 0.6478 Uncertain 10_81192190_C->T 10 81192190 81192190 C T snp 50.74 1/1 6 2 0 2 1.0 intronic rs7073205 ZCCHC24 AU NM_153367 exon3 c.46213-123C>T 0.266374 0.3393 Uncertain 10_81266411_T->C 10 81266411 81266411 T C snp 5277.77 1/1 99 182 0 182 1.0 intergenic rs1010929 ZCCHC24 AU 0.379393 0.4653 0.3533 0.495 Uncertain 10_81267591_C->T 10 81267591 81267591 C T snp 1657.77 1/1 99 57 1 56 0.98 intergenic rs1250778 ZCCHC24 AU 0.379792 0.4653 0.3651 0.5 Uncertain 10_81270173_A->G 10 81270173 81270173 A G snp 136.77 0/1 99 58 46 12 0.21 intergenic ZCCHC24 AU Uncertain 10_81270253_A->G 10 81270253 81270253 A G snp 814.77 0/1 99 174 128 46 0.26 intergenic rs373503554 ZCCHC24 AU 0.2879 0.4812 Uncertain 10_81270319_T->A 10 81270319 81270319 T A snp 812.77 0/1 99 164 117 47 0.29 intergenic rs369628215 ZCCHC24 AU 0.2997 0.4161 Uncertain 10_81270425_-->G 10 81270425 81270425 - G indel 203.73 0/1 99 31 20 11 0.35 intergenic rs373719454 ZCCHC24 AU 0.106829 0.1964 Uncertain 10_81272814_G->C 10 81272814 81272814 G C snp 2272.77 0/1 99 127 37 90 0.71 exonic rs200388618 EIF5AL1 AU nonsynonymous SNV NM_001099692 exon1 c.G409C p.V137L 0.092196 0.0991 0.2778 0.01 T 0.825 P -0.999 T 0.555 P 0.193 P Pathogenic 10_81272881_A->G 10 81272881 81272881 A G snp 364.77 0/1 99 58 41 17 0.29 UTR3 rs199829110 EIF5AL1 AU 0.2379 0.3871 Uncertain 10_81286374_A->C 10 81286374 81286374 A C snp 1019.77 1/1 78 45 0 45 1.0 intergenic rs1250962 EIF5AL1 AU 0.298522 0.4821 Uncertain 10_81286427_G->C 10 81286427 81286427 G C snp 137.9 1/1 15 13 0 13 1.0 intergenic rs1250961 EIF5AL1 AU 0.446885 0.4861 Uncertain 10_81286437_T->G 10 81286437 81286437 T G snp 35.74 1/1 6 5 0 5 1.0 intergenic rs1250960 EIF5AL1 AU 0.447284 0.4881 Uncertain 10_81316813_G->A 10 81316813 81316813 G A snp 876.77 1/1 66 22 0 22 1.0 UTR3 rs9408 SFTPA2 AD 0.114018 0.2847 Uncertain 10_81317292_G->A 10 81317292 81317292 G A snp 695.77 1/1 35 88 22 66 0.75 exonic rs1965707 SFTPA2 AD synonymous SNV NM_001098668 exon6 c.C420T p.S140S 0.348842 0.4841 0.2866 0.4554 Uncertain 10_81317360_A->G 10 81317360 81317360 A G snp 114.03 1/1 12 14 0 14 1.0 intronic rs1610440 SFTPA2 AD NM_001098668 exon1 c.377+19A>G 0.029277 0.0201 0.0473 Uncertain 10_81317652_T->G 10 81317652 81317652 T G snp 351.78 1/1 27 10 0 10 1.0 intronic rs17886197 SFTPA2 AD NM_001098668 exon2 c.843-155T>G 0.132588 0.2847 Uncertain 10_81317741_G->C 10 81317741 81317741 G C snp 1892.77 1/1 99 71 0 71 1.0 intronic rs145350846 SFTPA2 AD NM_001098668 exon2 c.843-66G>C 0.106829 0.2827 Uncertain 10_81318545_A->T 10 81318545 81318545 A T snp 520.77 1/1 39 14 0 14 1.0 intronic rs2217231 SFTPA2 AD NM_001098668 exon3 c.1677-96A>T 0.685104 0.4554 Uncertain 10_81318578_T->C 10 81318578 81318578 T C snp 779.77 1/1 57 27 0 27 1.0 intronic rs17880662 SFTPA2 AD NM_001098668 exon3 c.1677-63T>C 0.096246 0.2609 Uncertain 10_81318593_-->G 10 81318593 81318593 - G indel 1386.73 1/1 99 35 0 35 1.0 intronic rs199733516 SFTPA2 AD NM_001098668 exon3 c.1677-48insG 0.175319 0.2609 0.127877 0.0899 0.2180 Uncertain 10_81318663_C->G 10 81318663 81318663 C G snp 2048.77 1/1 99 73 0 73 1.0 exonic rs17886395 SFTPA2 AD nonsynonymous SNV NM_001098668 exon4 c.G271C p.A91P 0.223243 0.2986 0.149177 0.1857 0.2975 1 T 0.0 P -1.009 T 0.0 T 0.0 T ID=CM067028;DIS=Tuberculosis, association with;TAG=DP;PUB=16292672 DP Pathogenic 10_81318930_C->G 10 81318930 81318930 C G snp 35.74 1/1 6 2 0 2 1.0 intronic rs1250943 SFTPA2 AD NM_001098668 exon4 c.2103-137C>G 0.834465 0.9812 Uncertain 10_81319423_C->T 10 81319423 81319423 C T snp 931.78 1/1 27 50 14 36 0.72 intronic rs1975008 SFTPA2 AD NM_001098668 exon4 c.2298+161C>T 0.940495 0.999 0.9482 0.9936 0.0 P Uncertain 10_81319458_C->T 10 81319458 81319458 C T snp 889.78 1/1 27 45 10 35 0.78 intronic rs17883613 SFTPA2 AD NM_001098668 exon4 c.2298+196C>T 0.269369 0.4494 0.2586 0.4332 Uncertain 10_81319483_A->G 10 81319483 81319483 A G snp 841.77 1/1 60 36 0 36 1.0 intronic rs1975007 SFTPA2 AD NM_001098668 exon4 c.2298+221A>G 0.919329 0.999 0.9399 0.9985 Uncertain 10_81342369_G->T 10 81342369 81342369 G T snp 2342.77 1/1 99 106 1 105 0.99 intergenic rs34032311 SFTPA2 AD 0.84405 0.9802 Uncertain 10_81342469_A->G 10 81342469 81342469 A G snp 431.77 1/1 39 33 0 33 1.0 intergenic rs2678654 SFTPA2 AD Uncertain 10_81343036_G->A 10 81343036 81343036 G A snp 209.78 1/1 24 44 0 44 1.0 intergenic rs3855862 SFTPA2 AD 0.934505 0.999 Uncertain 10_81343177_T->C 10 81343177 81343177 T C snp 128.03 1/1 12 4 0 4 1.0 intergenic rs36137304 SFTPA2 AD 0.495208 0.5873 Uncertain 10_81371341_G->T 10 81371341 81371341 G T snp 844.77 1/1 63 32 0 32 1.0 intronic rs3997772 SFTPA1 AD 0.223442 0.2718 0.2047 0.2665 Uncertain 10_81371421_A->T 10 81371421 81371421 A T snp 526.77 1/1 42 22 0 22 1.0 intronic rs2678553 SFTPA1 AD NM_001093770 exon2 c.22+24A>T 0.138379 0.244 0.1153 0.2877 Uncertain 10_81371953_C->T 10 81371953 81371953 C T snp 537.77 1/1 42 14 0 14 1.0 intronic rs1914663 SFTPA1 AD NM_001164644 exon4 c.486-114C>T 0.139177 0.244 Uncertain 10_81372081_A->G 10 81372081 81372081 A G snp 3513.77 1/1 99 125 0 125 1.0 exonic rs1136451 SFTPA1 AD synonymous SNV NM_005411 exon4 c.A186G p.P62P 0.220847 0.2639 0.161717 0.2000 0.2698 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000151843.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 ID=CM033025;DIS=Idiopathic pulmonary fibrosis, association with;TAG=DP;PUB=13680361 DP Uncertain 10_81373428_C->T 10 81373428 81373428 C T snp 220.77 0/1 99 46 27 19 0.41 intronic SFTPA1 AD NM_001164644 exon6 c.1911-64C>T Uncertain 10_81373542_C->T 10 81373542 81373542 C T snp 1211.77 0/1 99 249 136 113 0.45 exonic rs3997777 SFTPA1 AD synonymous SNV NM_005411 exon6 c.C420T p.S140S 0.2087 0.3626 Uncertain 10_81373777_C->T 10 81373777 81373777 C T snp 5379.77 1/1 99 192 0 192 1.0 exonic rs4253527 SFTPA1 AD nonsynonymous SNV NM_005411 exon6 c.C655T p.R219W 0.115216 0.244 0.084551 0.1003 0.2544 0.09 T 0.0 P -1.014 T 0.027 T 0.007 T CLINSIG=unknown|non-pathogenic;CLNDBN=Pulmonary_fibrosis\x2c_idiopathic\x2c_susceptibility_to|not_specified;CLNREVSTAT=no_assertion_criteria_provided|criteria_provided\x2c_single_submitter;CLNACC=RCV000014093.3|RCV000155577.1;CLNDSDB=.|MedGen;CLNDSDBID=.|CN169374 ID=CM033026;DIS=Idiopathic pulmonary fibrosis, association with;TAG=DP;PUB=13680361 DP Pathogenic 10_81374651_C->T 10 81374651 81374651 C T snp 2570.77 1/1 99 85 0 85 1.0 UTR3 rs1250991 SFTPA1 AD 0.66853 0.7212 Uncertain 10_81680308_G->A 10 81680308 81680308 G A snp 182.77 0/1 99 14 8 6 0.43 ncRNA_exonic rs3750876 MBL1P AU 0.178315 0.2629 Uncertain 10_81680976_A->G 10 81680976 81680976 A G snp 77.77 0/1 99 9 5 4 0.44 ncRNA_intronic rs2819107 LOC100288974 AU 0.635383 0.501 Uncertain 10_81681454_A->G 10 81681454 81681454 A G snp 478.77 1/1 36 14 0 14 1.0 ncRNA_intronic rs2257414 LOC100288974 AU 0.750399 0.7738 Uncertain 10_81682462_G->A 10 81682462 81682462 G A snp 146.77 0/1 99 182 138 44 0.24 ncRNA_exonic MBL1P AU Uncertain 10_81682470_T->A 10 81682470 81682470 T A snp 46.77 0/1 75 171 133 38 0.22 ncRNA_exonic rs2475643 MBL1P AU Uncertain 10_81682645_A->G 10 81682645 81682645 A G snp 6019.77 1/1 99 205 1 204 1.0 ncRNA_exonic rs1054053 MBL1P AU 0.74401 0.7758 Uncertain 10_81698097_G->A 10 81698097 81698097 G A snp 601.77 1/1 45 17 0 17 1.0 intronic rs2819098 SFTPD AU NM_003019 exon1 c.377+113G>A 0.736022 0.7788 Uncertain 10_81701722_T->C 10 81701722 81701722 T C snp 1798.77 1/1 99 56 0 56 1.0 exonic rs2243639 SFTPD AU nonsynonymous SNV NM_003019 exon5 c.A538G p.T180A 0.770367 0.7917 0.716054 0.6635 0.8042 0.85 T 0.0 P -0.941 T 0.0 T 0.001 T CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_multiple_submitters\x2c_no_conflicts;CLNACC=RCV000151861.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 ID=CM067461;DIS=Lung cancer, susceptibility to, association with;TAG=DP;PUB=16741161 DP Pathogenic 10_81702722_T->C 10 81702722 81702722 T C snp 357.77 0/1 99 42 27 15 0.36 intronic rs1998374 SFTPD AU NM_003019 exon6 c.5028+87T>C 0.278554 0.4276 Uncertain 10_81706135_C->A 10 81706135 81706135 C A snp 136.77 0/1 99 14 9 5 0.36 intronic rs6413523 SFTPD AU NM_003019 exon7 c.8609-81C>A 0.176318 0.4067 Uncertain 10_81706324_A->G 10 81706324 81706324 A G snp 3343.77 1/1 99 121 0 121 1.0 exonic rs721917 SFTPD AU nonsynonymous SNV NM_003019 exon2 c.T92C p.M31T 0.504593 0.6151 0.413578 0.4700 0.6260 0.68 T 0.0 P -1.012 T 0.0 T 0.0 T CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000151865.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 ID=CM021324;DIS=Severe RSV infection, association with;TAG=DFP;PUB=12032263 DFP Pathogenic 10_81742158_T->G 10 81742158 81742158 T G snp 187.77 0/1 99 12 4 8 0.67 intergenic rs11201025 SFTPD AU 0.215855 0.4315 Uncertain 10_81841692_G->T 10 81841692 81841692 G T snp 773.77 0/1 99 63 34 29 0.46 exonic rs1932574 TMEM254 AU nonsynonymous SNV NM_001270371 exon3 c.G278T p.C93F 0.421126 0.6865 0.373443 0.4152 0.6958 0.000 P -0.959 T Pathogenic 10_81901722_C->T 10 81901722 81901722 C T snp 711.77 1/1 54 19 0 19 1.0 intronic rs745182 PLAC9 AU NM_001012973 exon2 c.9319-115C>T 0.579073 0.5645 Uncertain 10_81904638_G->A 10 81904638 81904638 G A snp 1764.77 1/1 99 59 0 59 1.0 intronic rs2819874 PLAC9 AU NM_001012973 exon4 c.12137-17G>A 0.525958 0.5685 0.497536 0.6011 0.6320 Uncertain 10_81915790_T->C 10 81915790 81915790 T C snp 948.77 1/1 69 27 0 27 1.0 intronic rs2789687 ANXA11 AU NM_145868 exon1 c.60+122T>C 0.949081 0.999 Uncertain 10_81917708_A->G 10 81917708 81917708 A G snp 1638.77 1/1 99 56 0 56 1.0 intronic rs1079242 ANXA11 AU NM_145868 exon3 c.2114-14A>G 0.408147 0.5843 0.409888 0.4726 0.5770 Uncertain 10_81921553_T->C 10 81921553 81921553 T C snp 90.28 1/1 9 3 0 3 1.0 intronic rs2784774 ANXA11 AU NM_145868 exon5 c.6082-137T>C 0.949681 0.999 Uncertain 10_81921918_T->C 10 81921918 81921918 T C snp 1723.77 1/1 99 62 0 62 1.0 intronic rs2245168 ANXA11 AU NM_145868 exon5 c.6176+134T>C 0.395966 0.6567 Uncertain 10_81923961_G->A 10 81923961 81923961 G A snp 1316.77 1/1 93 49 0 49 1.0 intronic rs2236557 ANXA11 AU NM_145868 exon8 c.8291+62G>A 0.396166 0.6577 Uncertain 10_81925785_C->T 10 81925785 81925785 C T snp 1482.77 1/1 99 54 0 54 1.0 intronic rs2573348 ANXA11 AU NM_145868 exon9 c.10231-54C>T 0.0383387 0.001 Uncertain 10_81925795_C->T 10 81925795 81925795 C T snp 1557.77 1/1 99 55 0 55 1.0 intronic rs9421228 ANXA11 AU NM_145868 exon9 c.10231-44C>T 0.5631 0.7307 Uncertain 10_81925797_CGCACACACACA->- 10 81925797 81925808 CGCACACACACA - indel 7723.73 ./1 99 56 0 56 1.0 intronic rs138741116 ANXA11 AU NM_145868 exon9 c.10231-42_10231-31delCGCACACACACA Uncertain 10_81925797_CGCACACACACACA->- 10 81925797 81925810 CGCACACACACACA - indel 7723.73 ./1 99 56 0 56 1.0 intronic ANXA11 AU NM_145868 exon9 c.10231-42_10231-29delCGCACACACACACA 0.038899 Uncertain 10_81926702_G->A 10 81926702 81926702 G A snp 3010.77 1/1 99 115 0 115 1.0 exonic rs1049550 ANXA11 AU nonsynonymous SNV NM_001157 exon6 c.C688T p.R230C 0.392173 0.6429 0.339228 0.4470 0.6845 0.01 T 1.000 P -0.929 T 1.0 D 0.998 D ID=CM064971;DIS=Colorectal cancer, increased risk, association with;TAG=DP;PUB=17000706 DP Pathogenic 10_81993405_G->C 10 81993405 81993405 G C snp 359.77 0/1 99 56 40 16 0.29 intergenic rs193254652 LINC00857 AU 0.000599042 0.003 Uncertain 10_81993410_T->C 10 81993410 81993410 T C snp 363.77 0/1 99 60 40 20 0.33 intergenic rs2945446 LINC00857 AU Uncertain 10_81993489_C->T 10 81993489 81993489 C T snp 969.77 0/1 99 120 72 48 0.4 intergenic rs11202256 LINC00857 AU 0.240216 0.4732 Uncertain 10_81993495_C->A 10 81993495 81993495 C A snp 348.77 0/1 99 120 93 27 0.23 intergenic rs2819913 LINC00857 AU Uncertain 10_81995007_A->G 10 81995007 81995007 A G snp 2547.77 0/1 99 214 101 113 0.53 intergenic rs1250973 LINC00857 AU Uncertain 10_81995059_A->G 10 81995059 81995059 A G snp 778.77 0/1 99 250 202 48 0.19 intergenic rs200784765 LINC00857 AU 0.213658 0.3859 Uncertain 10_81995062_A->G 10 81995062 81995062 A G snp 741.77 0/1 99 250 203 47 0.19 intergenic rs201999517 LINC00857 AU 0.213658 0.3859 Uncertain 10_81995191_G->- 10 81995191 81995191 G - indel 2244.73 0/1 99 149 69 80 0.54 intergenic rs377584813 LINC00857 AU 0.19988 0.3224 Uncertain 10_81995240_G->T 10 81995240 81995240 G T snp 879.77 0/1 99 80 45 35 0.44 intergenic rs61862376 LINC00857 AU Uncertain 10_81995286_T->C 10 81995286 81995286 T C snp 126.77 0/1 99 13 8 5 0.38 intergenic LINC00857 AU Uncertain 10_82012310_T->C 10 82012310 82012310 T C snp 319.77 0/1 99 20 8 12 0.6 intergenic rs7092394 LINC00857 AU 0.27516 0.4742 Uncertain 10_82012599_T->C 10 82012599 82012599 T C snp 2892.77 0/1 99 238 114 124 0.52 intergenic rs12219032 LINC00857 AU 0.275759 0.4762 0.2774 0.5049 Uncertain 10_82012748_G->A 10 82012748 82012748 G A snp 2939.77 0/1 99 249 128 121 0.49 intergenic rs12217395 LINC00857 AU 0.275559 0.4762 0.2789 0.5 0.42 T -0.899 T Uncertain 10_82012954_A->G 10 82012954 82012954 A G snp 3066.77 0/1 99 233 112 121 0.52 intergenic rs12773664 LINC00857 AU 0.408946 0.4901 0.4639 0.5194 0.37 T -0.901 T Uncertain 10_82012967_G->T 10 82012967 82012967 G T snp 2962.77 0/1 99 232 116 116 0.5 intergenic rs12411782 LINC00857 AU 0.270966 0.4692 0.2797 0.495 0.02 T -0.922 T Uncertain 10_82013119_G->A 10 82013119 82013119 G A snp 2625.77 0/1 99 169 79 90 0.53 intergenic rs12411806 LINC00857 AU 0.272963 0.4673 0.2784 0.5 0 D -0.919 T Uncertain 10_82013134_C->T 10 82013134 82013134 C T snp 2255.77 0/1 99 177 92 85 0.48 intergenic rs1298908 LINC00857 AU 0.589257 0.5159 0.5138 0.4764 0.45 T -1.013 T Uncertain 10_82013146_T->C 10 82013146 82013146 T C snp 2530.77 0/1 99 197 102 95 0.48 intergenic rs2573326 LINC00857 AU 0.598442 0.5159 0.5378 0.4717 0.98 T -0.846 T Uncertain 10_82033594_G->A 10 82033594 82033594 G A snp 834.77 0/1 99 89 51 38 0.43 exonic rs2993763 MAT1A AR,AD synonymous SNV NM_000429 exon9 c.C1131T p.Y377Y 0.586861 0.4861 0.537906 0.5124 0.4586 Uncertain 10_82033683_G->A 10 82033683 82033683 G A snp 697.77 0/1 99 72 41 31 0.43 intronic rs4933327 MAT1A AR,AD NM_000429 exon1 c.103+44G>A 0.253994 0.4623 0.176534 0.2333 0.4417 Uncertain 10_82034262_G->A 10 82034262 82034262 G A snp 3324.77 0/1 99 250 128 122 0.49 intronic rs2994388 MAT1A AR,AD NM_000429 exon2 c.739-13G>A 0.588059 0.4861 0.537982 0.5125 0.4594 Uncertain 10_82034842_A->G 10 82034842 82034842 A G snp 1165.77 1/1 84 43 0 43 1.0 exonic rs10887711 MAT1A AR,AD synonymous SNV NM_000429 exon7 c.T882C p.A294A 0.840455 0.9712 0.707032 0.7441 0.9724 Uncertain 10_82034854_T->C 10 82034854 82034854 T C snp 1485.77 1/1 99 54 0 54 1.0 exonic rs10788546 MAT1A AR,AD synonymous SNV NM_000429 exon7 c.A870G p.V290V 0.840855 0.9712 0.709340 0.7504 0.9759 Uncertain 10_82035150_A->T 10 82035150 82035150 A T snp 90.28 1/1 9 3 0 3 1.0 intronic rs9285726 MAT1A AR,AD NM_000429 exon3 c.1419+195A>T 0.864018 0.9722 Uncertain 10_82040052_A->G 10 82040052 82040052 A G snp 2753.77 1/1 99 102 0 102 1.0 exonic rs1143694 MAT1A AR,AD synonymous SNV NM_000429 exon5 c.T426C p.A142A 0.863419 0.9722 0.748424 0.7543 0.9765 Uncertain 10_82040346_A->G 10 82040346 82040346 A G snp 6315.77 1/1 99 209 0 209 1.0 intronic rs2282367 MAT1A AR,AD NM_000429 exon6 c.6899-89A>G 0.863219 0.9712 Uncertain 10_82043576_G->A 10 82043576 82043576 G A snp 96.28 1/1 9 3 0 3 1.0 intronic rs2236569 MAT1A AR,AD NM_000429 exon7 c.10135-95G>A 0.857228 0.9415 Uncertain 10_82045064_TAAT->- 10 82045064 82045067 TAAT - indel 349.8 1/1 18 6 0 6 1.0 intronic rs371262251 MAT1A AR,AD NM_000429 exon8 c.11731-203_11731-200delTAAT 0.814497 0.9722 Uncertain 10_82049251_-->TTCTTC 10 82049251 82049251 - TTCTTC indel 1875.73 1/1 72 43 0 43 1.0 UTR5 rs10694757 MAT1A AR,AD 0.769569 0.9474 Uncertain 10_82095968_T->G 10 82095968 82095968 T G snp 839.77 1/1 60 30 0 30 1.0 intronic rs1340383 DYDC1 AU NM_001269053 exon1 c.30+27T>G 0.85004 0.9772 0.731414 0.7541 0.9779 Uncertain 10_82102201_ACAATACATGGTC->- 10 82102201 82102213 ACAATACATGGTC - indel 1342.73 0/1 99 33 20 13 0.39 intronic rs143004348 DYDC1 AU NM_001269053 exon4 c.6206+84_6206+96delACAATACATGGTC 0.0802716 0.1587 Uncertain 10_82104446_G->A 10 82104446 82104446 G A snp 83.77 0/1 30 4 1 3 0.75 intronic rs12415730 DYDC1 AU NM_001269053 exon4 c.6206+2329G>A 0.255192 0.1885 Uncertain 10_82111460_T->A 10 82111460 82111460 T A snp 46.77 0/1 33 3 1 2 0.67 intronic rs11202652 DYDC1 AU NM_001269053 exon5 c.15745-196T>A 0.412141 0.7857 Uncertain 10_82112488_A->G 10 82112488 82112488 A G snp 476.77 1/1 36 12 0 12 1.0 intronic rs1572819 DYDC1 AU NM_001269053 exon6 c.16455+122A>G 0.84984 0.9772 Uncertain 10_82122523_A->G 10 82122523 82122523 A G snp 141.03 1/1 12 4 0 4 1.0 intronic rs1538819 DYDC2 AU NM_001270042 exon2 c.17808+177A>G 0.845248 0.9772 Uncertain 10_82126808_C->G 10 82126808 82126808 C G snp 50.74 1/1 6 2 0 2 1.0 UTR3 rs1047952 DYDC2 AU 0.845248 0.9772 Uncertain 10_82182296_G->A 10 82182296 82182296 G A snp 3343.77 1/1 99 126 0 126 1.0 intronic rs1870142 FAM213A AU NM_001243780 exon3 c.2041+32G>A 0.878794 0.9782 0.775258 0.7881 0.9765 Uncertain 10_82182328_G->A 10 82182328 82182328 G A snp 1079.77 0/1 99 101 56 45 0.45 intronic rs1870143 FAM213A AU NM_001243780 exon3 c.2041+64G>A 0.401957 0.8194 Uncertain 10_82182339_A->C 10 82182339 82182339 A C snp 1239.77 0/1 99 92 39 53 0.58 intronic rs17105023 FAM213A AU NM_001243780 exon3 c.2041+75A>C 0.107428 0.122 Uncertain 10_82182405_-->T 10 82182405 82182405 - T indel 769.73 1/1 63 27 0 27 1.0 intronic rs397785004 FAM213A AU NM_001243780 exon3 c.2041+141insT 0.875998 0.9782 Uncertain 10_82191643_A->G 10 82191643 82191643 A G snp 1558.77 0/1 99 113 45 68 0.6 intronic rs6585994 FAM213A AU NM_001243780 exon6 c.11518-98A>G 0.592652 0.8204 Uncertain 10_82269238_C->T 10 82269238 82269238 C T snp 1259.77 1/1 90 46 0 46 1.0 intronic rs10785897 TSPAN14 AU NM_030927 exon5 c.20238+11C>T 0.5627 0.8284 0.507766 0.5567 0.8280 Uncertain 10_82280140_C->T 10 82280140 82280140 C T snp 44.74 1/1 6 2 0 2 1.0 UTR3 rs873257 TSPAN14 AU 0.433506 0.8145 Uncertain 10_82331347_A->G 10 82331347 82331347 A G snp 540.77 0/1 99 38 18 20 0.53 intronic rs59617064 SH2D4B AU NM_207372 exon3 c.33247+13A>G 0.239217 0.4464 0.246040 0.3028 0.4646 Uncertain 10_82369195_C->T 10 82369195 82369195 C T snp 1407.77 0/1 99 97 41 56 0.58 exonic rs76540363 SH2D4B AU synonymous SNV NM_001145719 exon6 c.C729T p.R243R 0.0227636 0.1081 0.000231 0.0074 0.0998 Uncertain 10_84625107_C->T 10 84625107 84625107 C T snp 2366.77 0/1 99 250 154 96 0.38 intronic rs478010 NRG3 AU NM_001010848 exon4 c.990070-59C>T 0.759585 0.6667 0.720202 Uncertain 10_84711147_C->T 10 84711147 84711147 C T snp 1414.77 0/1 99 102 42 60 0.59 intronic rs4933861 NRG3 AU NM_001165972 exon5 c.1076128-77C>T 0.458866 0.6647 Uncertain 10_84718677_A->G 10 84718677 84718677 A G snp 1147.77 0/1 99 104 63 41 0.39 intronic rs17101139 NRG3 AU NM_001165972 exon6 c.1083608-27A>G 0.113818 0.0308 0.105259 0.0843 0.0423 Uncertain 10_84745256_C->T 10 84745256 84745256 C T snp 2322.77 0/1 99 209 112 97 0.46 exonic rs2295933 NRG3 AU synonymous SNV NM_001010848 exon9 c.C1986T p.S662S 0.469649 0.6637 0.340766 0.3802 0.6671 Uncertain 10_85903726_C->G 10 85903726 85903726 C G snp 1800.77 0/1 99 156 81 75 0.48 intronic rs2306320 GHITM AU NM_014394 exon4 c.2494-24C>G 0.339457 0.3889 0.246322 0.2255 0.3949 Uncertain 10_85908688_G->A 10 85908688 85908688 G A snp 1498.77 1/1 99 50 0 50 1.0 intronic rs7069909 GHITM AU NM_014394 exon6 c.7338+94G>A 0.791134 0.8006 Uncertain 10_85944313_A->T 10 85944313 85944313 A T snp 1933.77 1/1 99 63 1 62 0.98 intronic rs12250279 C10orf99 AU NM_207373 exon3 c.10829-123A>T 0.667931 0.4335 Uncertain 10_85944516_G->T 10 85944516 85944516 G T snp 1435.77 0/1 99 109 51 58 0.53 exonic rs76221724 C10orf99 AU nonsynonymous SNV NM_207373 exon3 c.G240T p.Q80H 0.00399361 0.0139 0.000308 0.0040 0.0269 0 D 0.974 N -0.984 T 1.0 D 0.998 D Pathogenic 10_85956056_C->T 10 85956056 85956056 C T snp 43.77 0/1 72 5 3 2 0.4 intronic rs77338033 CDHR1 AR NM_001171971 exon3 c.1744-204C>T 0.028754 0.0605 Uncertain 10_85957681_A->C 10 85957681 85957681 A C snp 476.77 0/1 99 21 5 16 0.76 intronic rs11200915 CDHR1 AR NM_001171971 exon4 c.3076+89A>C 0.259185 0.1954 Uncertain 10_85958658_-->AG 10 85958658 85958658 - AG indel 1370.73 ./1 99 28 0 28 1.0 intronic rs397828334 CDHR1 AR NM_001171971 exon5 c.4271-129insAG 0.280351 0.0893 Uncertain 10_85958659_AGAG->- 10 85958659 85958662 AGAG - indel 1370.73 ./1 99 28 0 28 1.0 intronic rs113539611 CDHR1 AR NM_001171971 exon5 c.4271-128_4271-125delAGAG 0.172923 0.2024 Uncertain 10_85958739_T->C 10 85958739 85958739 T C snp 631.77 0/1 99 67 37 30 0.45 intronic rs11200917 CDHR1 AR NM_001171971 exon5 c.4271-48T>C 0.189297 0.2014 0.161068 0.1904 0.2446 Uncertain 10_85960174_C->G 10 85960174 85960174 C G snp 133.03 1/1 12 4 0 4 1.0 intronic rs74598037 CDHR1 AR NM_001171971 exon6 c.5840-182C>G 0.0117812 0.0179 Uncertain 10_85960296_C->T 10 85960296 85960296 C T snp 2149.77 1/1 99 74 0 74 1.0 intronic rs10788334 CDHR1 AR NM_001171971 exon6 c.5840-60C>T 0.514577 0.3948 Uncertain 10_85960395_A->G 10 85960395 85960395 A G snp 2803.77 1/1 99 109 1 108 0.99 exonic rs4933975 CDHR1 AR synonymous SNV NM_033100 exon6 c.A477G p.A159A 0.515974 0.3948 0.524912 0.4947 0.3877 Uncertain 10_85961758_A->G 10 85961758 85961758 A G snp 4041.77 1/1 99 143 0 143 1.0 intronic rs11200922 CDHR1 AR NM_001171971 exon7 c.7160+82A>G 0.547324 0.3948 Uncertain 10_85961800_G->A 10 85961800 85961800 G A snp 1114.77 0/1 99 84 45 39 0.46 intronic rs12415295 CDHR1 AR NM_001171971 exon7 c.7160+124G>A 0.0315495 0.0546 Uncertain 10_85962650_T->G 10 85962650 85962650 T G snp 2619.77 1/1 99 80 0 80 1.0 intronic rs7073076 CDHR1 AR NM_001171971 exon8 c.8219-85T>G 0.548123 0.3948 Uncertain 10_85964497_T->C 10 85964497 85964497 T C snp 349.77 0/1 99 31 17 14 0.45 intronic rs4606427 CDHR1 AR NM_001171971 exon9 c.9845+136T>C 0.133586 0.1925 Uncertain 10_85965574_C->T 10 85965574 85965574 C T snp 127.77 0/1 99 30 21 9 0.3 intronic rs4933977 CDHR1 AR NM_001171971 exon10 c.11066-8C>T 0.133187 0.1925 0.075657 0.0797 0.1988 Uncertain 10_85965819_A->G 10 85965819 85965819 A G snp 513.77 1/1 39 16 0 16 1.0 intronic rs10788335 CDHR1 AR NM_001171971 exon10 c.11167+136A>G 0.613818 0.3958 Uncertain 10_85971347_G->A 10 85971347 85971347 G A snp 1498.77 0/1 99 134 70 64 0.48 intronic rs4933978 CDHR1 AR NM_001171971 exon14 c.16887-56G>A 0.264577 0.0655 0.308147 Uncertain 10_85972043_A->G 10 85972043 85972043 A G snp 4117.77 1/1 99 145 0 145 1.0 exonic rs10749482 CDHR1 AR synonymous SNV NM_033100 exon15 c.A1662G p.E554E 0.429113 0.2619 0.418345 0.3557 0.2502 Uncertain 10_85973265_G->A 10 85973265 85973265 G A snp 54.74 1/1 6 2 0 2 1.0 intronic rs4244946 CDHR1 AR NM_001171971 exon16 c.18588+161G>A 0.428914 0.2609 Uncertain 10_85974236_T->C 10 85974236 85974236 T C snp 7135.77 1/1 99 248 0 248 1.0 exonic rs3814213 CDHR1 AR synonymous SNV NM_033100 exon17 c.T2439C p.T813T 0.573682 0.4107 0.604875 0.5341 0.3929 Uncertain 10_85974381_A->G 10 85974381 85974381 A G snp 2175.77 1/1 99 67 0 67 1.0 UTR3 rs3814212 CDHR1 AR 0.627396 0.4117 0.680532 0.5867 0.3929 Uncertain 10_85978809_T->G 10 85978809 85978809 T G snp 1061.77 1/1 78 33 0 33 1.0 downstream rs4562752 CDHR1 AR 0.555112 0.4107 0.5491 0.4689 Uncertain 10_85978939_G->A 10 85978939 85978939 G A snp 5664.77 1/1 99 214 0 214 1.0 downstream rs4244947 CDHR1 AR 0.554113 0.4107 0.4890 0.4336 Uncertain 10_85978991_C->T 10 85978991 85978991 C T snp 1891.77 0/1 99 178 96 82 0.46 downstream rs7895270 CDHR1 AR 0.277955 0.0655 0.2680 0.0502 Uncertain 10_85981801_T->G 10 85981801 85981801 T G snp 6159.77 1/1 99 223 0 223 1.0 exonic rs6585847 LRIT2 AU nonsynonymous SNV NM_001017924 exon3 c.A1528C p.T510P 0.555112 0.4107 0.554077 0.5000 0.3936 1 T 0.0 P -1.005 T 0.0 T 0.0 T Pathogenic 10_85981842_A->G 10 85981842 85981842 A G snp 2442.77 0/1 99 164 72 92 0.56 exonic rs12217769 LRIT2 AU nonsynonymous SNV NM_001017924 exon3 c.T1487C p.V496A 0.207867 0.3452 0.175561 0.2128 0.3309 0.53 T 0.0 P -0.902 T 0.019 T 0.006 T Pathogenic 10_85984423_C->T 10 85984423 85984423 C T snp 2330.77 0/1 99 213 115 98 0.46 exonic rs11200926 LRIT2 AU synonymous SNV NM_001017924 exon2 c.G558A p.G186G 0.207867 0.3452 0.178533 0.2103 0.3318 Uncertain 10_85984723_G->A 10 85984723 85984723 G A snp 1591.77 0/1 99 160 98 62 0.39 exonic rs11200928 LRIT2 AU synonymous SNV NM_001017924 exon2 c.C258T p.L86L 0.208067 0.3452 0.178610 0.2103 0.3314 Uncertain 10_85985331_C->T 10 85985331 85985331 C T snp 1553.77 0/1 99 107 45 62 0.58 UTR5 rs7898778 LRIT2 AU 0.346446 0.0655 Uncertain 10_85992390_G->T 10 85992390 85992390 G T snp 2593.77 0/1 99 214 113 101 0.47 exonic rs12262099 LRIT1 AU nonsynonymous SNV NM_015613 exon4 c.C1165A p.P389T 0.193291 0.0417 0.188682 0.1045 0.0369 0.97 T 0.0 P -0.928 T 0.036 T 0.002 T Pathogenic 10_85992478_T->C 10 85992478 85992478 T C snp 5825.77 1/1 99 211 0 211 1.0 exonic rs3814210 LRIT1 AU synonymous SNV NM_015613 exon4 c.A1077G p.G359G 0.493211 0.2589 0.520990 0.4326 0.2477 Uncertain 10_85992511_T->C 10 85992511 85992511 T C snp 5840.77 1/1 99 216 0 216 1.0 exonic rs3814209 LRIT1 AU synonymous SNV NM_015613 exon4 c.A1044G p.P348P 0.492812 0.2579 0.521682 0.4323 0.2463 Uncertain 10_85993836_A->G 10 85993836 85993836 A G snp 267.8 1/1 21 10 0 10 1.0 exonic rs4933986 LRIT1 AU synonymous SNV NM_015613 exon3 c.T888C p.N296N 0.994609 1 0.984392 0.9796 0.9975 Uncertain 10_85993910_G->A 10 85993910 85993910 G A snp 1900.77 1/1 99 63 0 63 1.0 exonic rs3814206 LRIT1 AU synonymous SNV NM_015613 exon3 c.C814T p.L272L 0.572484 0.4058 0.573735 0.4982 0.3910 Uncertain 10_85994142_A->G 10 85994142 85994142 A G snp 3294.77 1/1 99 115 1 114 0.99 intronic rs3829858 LRIT1 AU NM_015613 exon2 c.2452+8A>G 0.58107 0.4058 0.582654 0.5036 0.3908 Uncertain 10_85996968_A->C 10 85996968 85996968 A C snp 383.77 0/1 99 29 13 16 0.55 intronic rs4933988 LRIT1 AU NM_015613 exon3 c.5293-7A>C 0.454673 0.2063 0.439200 0.4002 0.2 Uncertain 10_85997250_G->A 10 85997250 85997250 G A snp 798.77 0/1 99 75 42 33 0.44 exonic rs10887259 LRIT1 AU synonymous SNV NM_015613 exon2 c.C315T p.G105G 0.460663 0.2073 0.473970 0.4737 0.2855 Uncertain 10_86001255_-->GCCCAGCAA 10 86001255 86001255 - GCCCAGCAA indel 507.8 1/1 18 8 0 8 1.0 upstream rs3841414 LRIT1 AU 0.599641 0.4097 Uncertain 10_86004736_A->G 10 86004736 86004736 A G snp 616.77 1/1 45 26 0 26 1.0 upstream rs2279228 RGR AU 0.6248 0.495 Uncertain 10_86004865_C->T 10 86004865 86004865 C T snp 169.77 0/1 99 24 16 8 0.33 exonic rs11200938 RGR AU synonymous SNV NM_001012720 exon1 c.C19T p.L7L 0.0395367 0.0218 0.057896 0.0739 0.0281 Uncertain 10_86004873_T->C 10 86004873 86004873 T C snp 696.77 1/1 51 24 0 24 1.0 exonic rs2279227 RGR AU synonymous SNV NM_001012720 exon1 c.T27C p.T9T 0.633586 0.495 0.620560 0.5312 0.4482 Uncertain 10_86012713_C->T 10 86012713 86012713 C T snp 3104.77 1/1 99 105 0 105 1.0 exonic rs1042454 RGR AU synonymous SNV NM_001012720 exon4 c.C459T p.Y153Y 0.503195 0.3313 0.505151 0.4184 0.2974 Uncertain 10_86012831_C->T 10 86012831 86012831 C T snp 466.77 0/1 99 24 8 16 0.67 intronic rs11200942 RGR AU NM_002921 exon4 c.7920+65C>T 0.0393371 0.0208 Uncertain 10_86018460_A->G 10 86018460 86018460 A G snp 533.77 0/1 99 26 9 17 0.65 UTR3 rs3526 RGR AU 0.177915 0.1567 Uncertain 10_86131003_T->C 10 86131003 86131003 T C snp 951.77 0/1 99 90 50 40 0.44 exonic rs17103381 CCSER2 AU synonymous SNV NM_001284240 exon2 c.T195C p.N65N 0.034345 0.0724 0.008842 0.0311 0.0580 Uncertain 10_86131059_A->G 10 86131059 86131059 A G snp 2672.77 1/1 99 89 0 89 1.0 exonic rs3814205 CCSER2 AU nonsynonymous SNV NM_001284240 exon2 c.A251G p.N84S 0.213259 0.2312 0.185433 0.2343 0.2474 0.84 T 0.0 P -1.016 T 0.001 T 0.004 T Pathogenic 10_86185654_T->G 10 86185654 86185654 T G snp 2109.77 1/1 99 70 0 70 1.0 splicing rs1336202 CCSER2 AU NM_001284242 exon2 c.149+5T>G 1 1 0.9997 0.9956 Pathogenic 10_86198221_ATTGT->- 10 86198221 86198225 ATTGT - indel 965.73 0/1 99 34 19 15 0.44 intronic rs147451516 CCSER2 AU NM_001284242 exon3 c.12767-46_12767-42delATTGT 0.0479233 0.0645 0.044684 0.0713 0.0812 Uncertain 10_86198533_T->A 10 86198533 86198533 T A snp 373.77 0/1 99 39 24 15 0.38 intronic rs34484957 CCSER2 AU NM_001284242 exon3 c.12963+70T>A 0.0479233 0.0645 Uncertain 10_86223795_G->A 10 86223795 86223795 G A snp 1604.77 1/1 99 55 0 55 1.0 intronic rs11598369 CCSER2 AU NM_001284242 exon4 c.38272+23G>A 0.212061 0.2302 0.184174 0.2513 0.2662 Uncertain 10_86237505_G->A 10 86237505 86237505 G A snp 2443.77 1/1 99 86 0 86 1.0 intronic rs11594873 CCSER2 AU NM_001284242 exon6 c.51920+85G>A 0.213059 0.2302 Uncertain 10_86273249_T->C 10 86273249 86273249 T C snp 3809.77 1/1 99 132 0 132 1.0 exonic rs11557865 CCSER2 AU nonsynonymous SNV NM_001284243 exon8 c.T736C p.S246P 0.216454 0.2302 0.188067 0.2350 0.2472 1 T 0.000 P -0.964 T 0.0 T 0.0 T Pathogenic 10_87407163_C->G 10 87407163 87407163 C G snp 1547.77 0/1 99 149 79 70 0.47 intronic rs17105747 GRID1 AU NM_017551 exon4 c.45125+9C>G 0.102236 0.0982 0.058358 0.0500 0.1049 Uncertain 10_87966028_T->C 10 87966028 87966028 T C snp 393.77 0/1 99 28 14 14 0.5 intronic rs56757884 GRID1 AU NM_017551 exon14 c.604091-92T>C 0.301717 0.2728 Uncertain 10_88024443_T->C 10 88024443 88024443 T C snp 3168.77 1/1 99 112 0 112 1.0 intronic rs2607863 GRID1 AU NM_017551 exon14 c.604376+58038T>C 0.98722 0.999 0.961204 0.9744 1 Uncertain 10_88125890_C->A 10 88125890 88125890 C A snp 133.03 1/1 12 4 0 4 1.0 intronic rs34731943 GRID1 AU NM_017551 exon16 c.764041-180C>A 0.241813 0.2272 Uncertain 10_88126056_T->G 10 88126056 88126056 T G snp 2847.77 1/1 99 115 0 115 1.0 intronic rs11202000 GRID1 AU NM_017551 exon16 c.764041-14T>G 0.961661 0.998 0.972190 0.9517 1 Uncertain 10_88203068_T->C 10 88203068 88203068 T C snp 4894.77 1/1 99 187 0 187 1.0 exonic rs7094132 WAPAL AU synonymous SNV NM_015045 exon17 c.A3375G p.T1125T 0.813898 0.629 0.891435 0.8708 0.5919 Uncertain 10_88203208_T->C 10 88203208 88203208 T C snp 1081.77 1/1 81 31 0 31 1.0 intronic rs7094269 WAPAL AU NM_015045 exon3 c.5821+88T>C 0.958866 0.999 Uncertain 10_88220866_C->T 10 88220866 88220866 C T snp 604.77 1/1 45 19 0 19 1.0 intronic rs7922658 WAPAL AU NM_015045 exon10 c.23633-66C>T 0.813498 0.629 Uncertain 10_88230874_G->A 10 88230874 88230874 G A snp 2736.77 1/1 99 93 0 93 1.0 intronic rs2288362 WAPAL AU NM_015045 exon12 c.33561+14G>A 0.728834 0.5823 0.790558 0.8036 0.5593 Uncertain 10_88230885_G->C 10 88230885 88230885 G C snp 902.77 0/1 99 78 42 36 0.46 intronic rs2288361 WAPAL AU NM_015045 exon12 c.33561+25G>C 0.0920527 0.0595 0.103491 0.0750 0.0493 Uncertain 10_88233628_C->G 10 88233628 88233628 C G snp 557.77 0/1 99 82 55 27 0.33 intronic rs3758520 WAPAL AU NM_015045 exon15 c.36335-6C>G 0.263778 0.254 0.346763 0.3558 0.2385 Uncertain 10_88256943_C->T 10 88256943 88256943 C T snp 2327.77 1/1 99 82 0 82 1.0 intronic rs4934215 WAPAL AU NM_015045 exon16 c.59658-14C>T 0.961062 0.999 0.972167 0.9510 0.9991 Uncertain 10_88281346_A->G 10 88281346 88281346 A G snp 2378.77 1/1 99 81 0 81 1.0 UTR5 rs4934218 WAPAL AU 1 1 0.9994 1 Uncertain 10_88415898_C->T 10 88415898 88415898 C T snp 1471.77 0/1 99 137 74 63 0.46 intronic rs36011203 OPN4 AU NM_033282 exon2 c.1371-13C>T 0.0471246 0.0119 0.049208 0.0264 0.0082 Uncertain 10_88416963_G->A 10 88416963 88416963 G A snp 834.77 0/1 99 103 66 37 0.36 exonic rs7901458 OPN4 AU nonsynonymous SNV NM_001030015 exon3 c.G302A p.R101H 0.0471246 0.0119 0.049208 0.0264 0.0087 0.34 T 0.0 P -1.015 T 0.0 T 0.0 T Pathogenic 10_88418505_G->T 10 88418505 88418505 G T snp 173.77 0/1 99 15 8 7 0.47 intronic rs33921909 OPN4 AU NM_033282 exon4 c.3904+61G>T 0.0471246 0.0119 Uncertain 10_88420871_-->A 10 88420871 88420871 - A indel 58.73 0/1 52 8 3 5 0.63 intronic rs397961658 OPN4 AU NM_033282 exon7 c.6497-166insA 0.333267 0.3234 Uncertain 10_88421041_C->T 10 88421041 88421041 C T snp 1937.77 0/1 99 187 102 85 0.45 exonic rs7478092 OPN4 AU synonymous SNV NM_001030015 exon8 c.C1002T p.Y334Y 0.0748802 0.0357 0.063586 0.0371 0.0295 Uncertain 10_88422116_C->T 10 88422116 88422116 C T snp 688.77 0/1 99 65 39 26 0.4 exonic rs1079610 OPN4 AU nonsynonymous SNV NM_001030015 exon9 c.C1214T p.T405I 0.753195 0.7927 0.687057 0.7285 0.8167 0.52 T 0.001 P -1.018 T 0.001 T 0.003 T ID=CM133193;DIS=Pupillary light response, association with;TAG=FP;PUB=23555953 FP Pathogenic 10_88425555_C->A 10 88425555 88425555 C A snp 2557.77 0/1 99 230 117 113 0.49 UTR3 rs2803554 OPN4 AU 0.139976 0.1399 0.161796 0.1390 0.1327 Uncertain 10_88425754_A->G 10 88425754 88425754 A G snp 56.74 1/1 6 2 0 2 1.0 UTR3 rs2736687 OPN4 AU 0.998602 1 Uncertain 10_88428335_T->C 10 88428335 88428335 T C snp 1353.77 0/1 99 123 65 58 0.47 UTR5 rs2803558 LDB3 AD 0.752196 0.8095 CLINSIG=non-pathogenic;CLNDBN=not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000126612.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Uncertain 10_88445385_G->C 10 88445385 88445385 G C snp 2126.77 0/1 99 215 125 90 0.42 intronic rs3740345 LDB3 AD NM_001080114 exon4 c.16986-49G>C 0.624201 0.4702 0.710220 0.6875 0.4540 Uncertain 10_88458997_TCTCTC->- 10 88458997 88459002 TCTCTC - indel 2725.73 0/1 99 62 23 39 0.63 intronic rs139252694 LDB3 AD NM_001171611 exon8 c.30586-37_30586-32delTCTCTC 0.36262 0.5069 0.2687 0.4485 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000036852.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 10_88486103_T->- 10 88486103 88486103 T - indel 487.73 0/1 99 33 18 15 0.45 intronic rs34647099 LDB3 AD NM_007078 exon12 c.57561+94delT 0.279752 0.5675 Uncertain 10_88492235_A->G 10 88492235 88492235 A G snp 357.77 0/1 99 26 9 17 0.65 intronic rs7916248 LDB3 AD NM_007078 exon13 c.64195-408A>G 0.453275 0.6419 0.3802 0.6742 Uncertain 10_88492254_TGTTTGTT->- 10 88492254 88492261 TGTTTGTT - indel 1744.73 0/1 99 28 10 18 0.64 intronic rs71487280 LDB3 AD NM_007078 exon13 c.64195-389_64195-382delTGTTTGTT 0.28115 0.5665 0.2764 0.5909 Uncertain 10_88492362_G->A 10 88492362 88492362 G A snp 213.77 0/1 99 12 5 7 0.58 intronic rs7899324 LDB3 AD NM_007078 exon13 c.64195-281G>A 0.266374 0.5675 0.2830 0.5870 Uncertain 10_88492409_G->C 10 88492409 88492409 G C snp 108.77 0/1 99 10 6 4 0.4 intronic rs7899337 LDB3 AD NM_007078 exon13 c.64195-234G>C 0.422324 0.6081 0.3795 0.6513 Uncertain 10_88635779_C->A 10 88635779 88635779 C A snp 876.77 1/1 66 24 0 24 1.0 exonic rs11528010 BMPR1A AU,AD nonsynonymous SNV NM_004329 exon3 c.C4A p.P2T 0.4998 0.7093 0.389513 0.3558 0.7194 1 T 0.000 P -0.953 T 0.0 T 0.0 T CLINSIG=non-pathogenic|untested|non-pathogenic;CLNDBN=not_provided|not_specified|Hereditary_cancer-predisposing_syndrome;CLNREVSTAT=no_assertion_criteria_provided|no_assertion_provided|criteria_provided\x2c_single_submitter;CLNACC=RCV000034703.1|RCV000120253.1|RCV000131909.2;CLNDSDB=MedGen|MedGen|MedGen:SNOMED_CT;CLNDSDBID=CN221809|CN169374|C0027672:699346009 Pathogenic 10_88678748_A->T 10 88678748 88678748 A T snp 331.78 1/1 27 9 0 9 1.0 intronic rs1240188 BMPR1A AU,AD NM_004329 exon10 c.43153-180A>T 0.965455 0.9573 Uncertain 10_88683122_T->C 10 88683122 88683122 T C snp 883.77 1/1 66 25 0 25 1.0 intronic rs7074064 BMPR1A AU,AD NM_004329 exon12 c.47357-10T>C 0.496605 0.7004 0.389820 0.3538 0.7199 Uncertain 10_88702350_G->C 10 88702350 88702350 G C snp 3233.06 1/1 99 117 1 116 0.99 exonic rs4934281 MMRN2 AU nonsynonymous SNV NM_024756 exon6 c.C2191G p.H731D 0.952077 0.999 0.936952 0.9616 0.9999 0.75 T 0.0 P -0.975 T 0.0 T 0.0 T Pathogenic 10_88717040_A->G 10 88717040 88717040 A G snp 187.9 1/1 15 7 0 7 1.0 intronic MMRN2 AU NM_024756 exon7 c.20635-94A>G Uncertain 10_88717140_T->A 10 88717140 88717140 T A snp 651.77 1/1 48 21 0 21 1.0 exonic rs4244973 MMRN2 AU synonymous SNV NM_024756 exon1 c.A159T p.V53V 0.983227 0.999 0.971244 0.9722 0.9999 Uncertain 10_88717154_C->T 10 88717154 88717154 C T snp 128.77 0/1 99 25 19 6 0.24 exonic rs3750823 MMRN2 AU nonsynonymous SNV NM_024756 exon1 c.G145A p.G49S 0.423522 0.7113 0.385514 0.4495 0.6931 0.82 T 0.0 P -0.979 T 0.001 T 0.0 T Pathogenic 10_88718436_A->C 10 88718436 88718436 A C snp 233.77 0/1 99 16 7 9 0.56 UTR5 rs1800373 SNCG AU 0.538139 0.7123 0.529832 0.5338 0.6887 Uncertain 10_88718761_T->G 10 88718761 88718761 T G snp 40.77 0/1 33 3 1 2 0.67 intronic rs3793899 SNCG AU NM_003087 exon1 c.121+186T>G 0.534744 0.7083 Uncertain 10_88730106_C->T 10 88730106 88730106 C T snp 1784.77 0/1 99 167 89 78 0.47 intronic rs2279602 ADIRF AU NM_006829 exon2 c.1718+87C>T 0.503395 0.8095 0.5384 0.8112 Uncertain 10_88730177_A->G 10 88730177 88730177 A G snp 2580.77 0/1 99 250 136 114 0.46 intronic rs2279601 ADIRF AU NM_006829 exon3 c.1931-55A>G 0.538738 0.8185 0.6092 0.8134 Uncertain 10_88730312_T->C 10 88730312 88730312 T C snp 3068.77 0/1 99 250 125 125 0.5 exonic rs4869 ADIRF AU synonymous SNV NM_006829 exon3 c.T204C p.I68I 0.527157 0.8095 0.482239 0.5513 0.7984 Uncertain 10_88730374_C->T 10 88730374 88730374 C T snp 3039.77 0/1 99 248 117 131 0.53 UTR3 rs7960 ADIRF AU 0.403155 0.6855 0.369502 0.4572 0.6690 Uncertain 10_88768039_A->G 10 88768039 88768039 A G snp 122.77 0/1 60 6 2 4 0.67 intronic rs36104328 AGAP11 AU NM_133447 exon12 c.6632-72A>G 0.166134 0.0952 Uncertain 10_88768253_A->G 10 88768253 88768253 A G snp 5104.77 1/1 99 193 0 193 1.0 exonic rs2641563 AGAP11 AU nonsynonymous SNV NM_133447 exon12 c.A244G p.I82V 0.791134 0.9325 0.735376 0.7313 0.9108 Pathogenic 10_88768657_C->T 10 88768657 88768657 C T snp 4118.77 1/1 99 143 0 143 1.0 exonic rs1745901 AGAP11 AU synonymous SNV NM_133447 exon12 c.C648T p.D216D 0.777756 0.9286 0.715747 0.7274 0.9101 Uncertain 10_88819133_T->C 10 88819133 88819133 T C snp 327.77 0/1 99 41 25 16 0.39 intronic rs2296062 GLUD1 AD NM_005271 exon4 c.7523+103T>C 0.434704 0.6865 Uncertain 10_88820789_T->C 10 88820789 88820789 T C snp 2680.77 0/1 99 234 120 114 0.49 exonic rs9421572 GLUD1 AD synonymous SNV NM_005271 exon7 c.A942G p.L314L 0.167732 0.5724 0.069429 0.1221 0.5887 CLINSIG=probable-non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=no_assertion_criteria_provided|criteria_provided\x2c_single_submitter;CLNACC=RCV000117153.2|RCV000125249.1;CLNDSDB=MedGen|MedGen;CLNDSDBID=CN169374|CN221809 Uncertain 10_88828050_C->T 10 88828050 88828050 C T snp 377.77 0/1 99 30 14 16 0.53 intronic rs2296061 GLUD1 AD NM_005271 exon9 c.16407+136C>T 0.270367 0.6567 Uncertain 10_88935590_C->G 10 88935590 88935590 C G snp 179.77 0/1 99 24 15 9 0.38 intronic rs11202370 FAM35A AU NM_019054 exon7 c.28720-4241C>G 0.591653 0.2569 Uncertain 10_88939962_T->C 10 88939962 88939962 T C snp 1449.77 0/1 99 116 49 67 0.58 exonic rs7081609 FAM35A AU synonymous SNV NM_019054 exon7 c.T2094C p.G698G 0.793331 0.377 0.884769 0.8356 0.3675 Uncertain 10_88975783_C->T 10 88975783 88975783 C T snp 2013.77 0/1 99 184 98 86 0.47 intergenic rs28533204 FAM35A AU 0.248602 0.0407 Uncertain 10_89267957_C->T 10 89267957 89267957 C T snp 788.77 0/1 99 78 42 36 0.46 intronic rs3843597 MINPP1 AD NM_001178118 exon1 c.34-38C>T 0.744808 0.6627 0.7176 0.7289 Uncertain 10_89269267_G->A 10 89269267 89269267 G A snp 341.77 0/1 99 27 14 13 0.48 intronic rs3843598 MINPP1 AD NM_001178117 exon2 c.3618+977G>A 0.744808 0.6627 Uncertain 10_89269373_A->G 10 89269373 89269373 A G snp 900.77 0/1 99 86 45 41 0.48 intronic rs11202427 MINPP1 AD NM_001178117 exon2 c.3618+1083A>G 0.185503 0.2986 Uncertain 10_89463460_G->C 10 89463460 89463460 G C snp 755.77 0/1 99 97 61 36 0.37 intronic rs7923151 PAPSS2 AR NM_004670 exon2 c.49214-5492G>C 0.546725 0.4315 0.491280 0.4424 0.4315 Uncertain 10_89469084_ATAT->- 10 89469084 89469087 ATAT - indel 1517.73 1/1 78 42 0 42 1.0 intronic rs533997454 PAPSS2 AR NM_004670 exon2 c.49332+14_49332+17delATAT 0.638578 0.8204 0.5181 0.7239 Uncertain 10_89472722_T->- 10 89472722 89472722 T - indel 114.8 1/1 18 6 0 6 1.0 intronic rs148721342 PAPSS2 AR NM_004670 exon3 c.53093-109delT 0.435903 0.3948 Uncertain 10_89474072_C->T 10 89474072 89474072 C T snp 337.77 0/1 99 21 10 11 0.52 intronic rs2302404 PAPSS2 AR NM_004670 exon4 c.54201+133C>T 0.197484 0.4256 Uncertain 10_89475617_G->A 10 89475617 89475617 G A snp 965.77 0/1 99 63 23 40 0.63 intronic rs2302405 PAPSS2 AR NM_004670 exon7 c.55862+17G>A 0.0898562 0.0714 0.123943 0.1113 0.0693 Uncertain 10_89475641_A->- 10 89475641 89475641 A - indel 917.73 1/1 94 45 1 44 0.98 intronic rs3214322 PAPSS2 AR NM_004670 exon7 c.55862+41delA 0.61881 0.7312 0.6070 0.7323 Uncertain 10_89475692_A->G 10 89475692 89475692 A G snp 597.77 1/1 45 20 0 20 1.0 intronic rs2302406 PAPSS2 AR NM_004670 exon7 c.55862+92A>G 0.644768 0.7748 Uncertain 10_89475717_G->A 10 89475717 89475717 G A snp 431.77 1/1 33 12 0 12 1.0 intronic rs2302407 PAPSS2 AR NM_004670 exon7 c.55862+117G>A 0.608427 0.7321 Uncertain 10_89519376_A->C 10 89519376 89519376 A C snp 1035.77 0/1 99 65 26 39 0.6 intronic rs10509411 ATAD1 AU NM_032810 exon2 c.2236+2697A>C 0.13119 0.3353 Uncertain 10_89624218_C->G 10 89624218 89624218 C G snp 432.77 0/1 99 28 12 16 0.57 UTR5 rs11202592 PTEN AU,AD,AR 0.0109824 0.0506 0.000154 0.0036 0.0456 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|Hereditary_cancer-predisposing_syndrome;CLNREVSTAT=criteria_provided\x2c_single_submitter|criteria_provided\x2c_single_submitter;CLNACC=RCV000078600.3|RCV000131696.1;CLNDSDB=MedGen|MedGen:SNOMED_CT;CLNDSDBID=CN169374|C0027672:699346009 ID=COSM5915;OCCURENCE=4(cervix),2(central_nervous_system) ID=CR033149;DIS=Diabetes, type 2, association with;TAG=DP;PUB=14623110 DP Uncertain 10_89653686_A->G 10 89653686 89653686 A G snp 232.77 0/1 99 21 10 11 0.52 intronic rs1903858 PTEN AU,AD,AR NM_000314 exon2 c.29555-95A>G 0.417931 0.505 ID=COSN163696;OCCURENCE=1(NS) Uncertain 10_89690952_-->TTATC 10 89690952 89690952 - TTATC indel 417.73 0/1 99 23 12 11 0.48 intronic rs1799734 PTEN AU,AD,AR NM_000314 exon4 c.66620+106insTTATC 0.427516 0.503 Uncertain 10_89720907_T->G 10 89720907 89720907 T G snp 624.77 0/1 99 54 28 26 0.48 intronic rs555895 PTEN AU,AD,AR NM_000314 exon8 c.96649+32T>G 0.432508 0.504 0.378643 0.3699 0.4829 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000078603.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 10_90069353_C->T 10 90069353 90069353 C T snp 1219.77 0/1 99 130 76 54 0.42 intronic rs12572813 RNLS AU NM_018363 exon2 c.39505-4869C>T 0.187101 0.3581 Uncertain 10_90122512_C->T 10 90122512 90122512 C T snp 256.77 0/1 99 33 19 14 0.42 intronic rs3740279 RNLS AU NM_018363 exon3 c.87765+30C>T 0.167532 0.3601 0.131170 0.1737 0.3534 Uncertain 10_90305177_C->T 10 90305177 90305177 C T snp 1315.77 1/1 93 48 0 48 1.0 intronic rs11202769 RNLS AU NM_018363 exon4 c.297942-27482C>T 0.494609 0.4375 0.4478 0.5286 Uncertain 10_90305375_T->C 10 90305375 90305375 T C snp 135.03 1/1 12 4 0 4 1.0 intronic rs9664314 RNLS AU NM_018363 exon4 c.297942-27284T>C 0.494609 0.4375 Uncertain 10_90332926_A->C 10 90332926 90332926 A C snp 503.77 0/1 99 35 19 16 0.46 intronic RNLS AU NM_018363 exon4 c.298101+108A>C Uncertain 10_90342837_C->G 10 90342837 90342837 C G snp 7412.77 1/1 99 250 0 250 1.0 exonic rs2296545 RNLS AU nonsynonymous SNV NM_001031709 exon1 c.G111C p.E37D 0.478235 0.4484 0.469168 0.4600 0.4302 0.07 T 0.000 P -0.917 T 0.425 T 0.121 T ID=CM074076;DIS=Essential hypertension in Han Chinese, association with;TAG=DP;PUB=17216203 DP Pathogenic 10_90356598_A->G 10 90356598 90356598 A G snp 1528.77 1/1 99 61 0 61 1.0 exonic rs1409136 LIPJ AU nonsynonymous SNV NM_001010939 exon8 c.A628G p.I210V 0.892572 0.994 0.789595 0.7994 0.9875 0.27 T 0.0 P -0.994 T 0.0 T 0.008 T Pathogenic 10_90365290_A->G 10 90365290 90365290 A G snp 2682.77 1/1 99 104 0 104 1.0 intronic rs2274312 LIPJ AU NM_001010939 exon10 c.14945-99A>G 0.476238 0.4464 Uncertain 10_90433345_T->A 10 90433345 90433345 T A snp 648.77 0/1 99 61 30 31 0.51 exonic rs6586145 LIPF AU nonsynonymous SNV NM_001198828 exon7 c.T571A p.F191I 0.133586 0.1419 0.136769 0.0970 0.1396 0.0 P -1.116 T 0.0 T 0.0 T Pathogenic 10_90435507_C->T 10 90435507 90435507 C T snp 737.77 0/1 99 50 18 32 0.64 intronic rs11202805 LIPF AU NM_001198830 exon9 c.10117+93C>T 0.121605 0.1399 Uncertain 10_90436201_C->T 10 90436201 90436201 C T snp 141.03 1/1 12 4 0 4 1.0 intronic rs1432444 LIPF AU NM_001198830 exon10 c.10740+164C>T 0.585663 0.6508 Uncertain 10_90438047_T->C 10 90438047 90438047 T C snp 336.77 0/1 99 29 18 11 0.38 intronic rs2275491 LIPF AU NM_001198830 exon11 c.12904-154T>C 0.124601 0.1409 Uncertain 10_90484243_C->T 10 90484243 90484243 C T snp 1686.77 1/1 99 58 0 58 1.0 upstream rs376036 LIPK AU 0.873802 0.998 Uncertain 10_90484420_C->A 10 90484420 90484420 C A snp 1930.77 1/1 99 65 0 65 1.0 intronic rs56390975 LIPK AU NM_001080518 exon1 c.105+15C>A 0.874002 0.998 0.7729 0.9959 Uncertain 10_90484423_A->- 10 90484423 90484423 A - indel 1922.73 1/1 99 64 0 64 1.0 intronic rs11358016 LIPK AU NM_001080518 exon1 c.105+18delA 0.874601 0.998 0.749027 0.7726 0.9958 Uncertain 10_90486793_T->G 10 90486793 90486793 T G snp 600.77 1/1 45 21 0 21 1.0 intronic rs407433 LIPK AU NM_001080518 exon2 c.2369+124T>G 0.873802 0.998 Uncertain 10_90490728_T->C 10 90490728 90490728 T C snp 284.77 0/1 99 27 15 12 0.44 intronic rs392430 LIPK AU NM_001080518 exon3 c.6439-11T>C 0.257388 0.3472 0.204938 0.3229 0.4795 Uncertain 10_90490921_G->A 10 90490921 90490921 G A snp 1817.77 0/1 99 146 71 75 0.51 exonic rs412227 LIPK AU synonymous SNV NM_001080518 exon3 c.G405A p.P135P 0.257188 0.3462 0.207680 0.3053 0.4472 Uncertain 10_90497588_A->G 10 90497588 90497588 A G snp 1360.77 0/1 99 117 61 56 0.48 intronic rs444764 LIPK AU NM_001080518 exon6 c.13238+50A>G 0.25619 0.3502 0.215251 0.2386 0.3804 Uncertain 10_90497655_T->C 10 90497655 90497655 T C snp 269.77 0/1 99 23 14 9 0.39 intronic rs405147 LIPK AU NM_001080518 exon6 c.13238+117T>C 0.25599 0.3502 Uncertain 10_90499894_G->A 10 90499894 90499894 G A snp 989.77 0/1 99 86 46 40 0.47 intronic rs443886 LIPK AU NM_001080518 exon7 c.15524+70G>A 0.25619 0.3502 Uncertain 10_90499928_C->T 10 90499928 90499928 C T snp 485.77 0/1 99 48 29 19 0.4 intronic rs419014 LIPK AU NM_001080518 exon7 c.15524+104C>T 0.25619 0.3502 Uncertain 10_90503075_T->C 10 90503075 90503075 T C snp 688.77 0/1 99 63 29 34 0.54 exonic rs390152 LIPK AU synonymous SNV NM_001080518 exon8 c.T957C p.H319H 0.257788 0.3502 0.218090 0.3368 0.4800 Uncertain 10_90512166_T->C 10 90512166 90512166 T C snp 43.77 0/1 70 4 2 2 0.5 intronic rs74147266 LIPK AU NM_001080518 exon9 c.27973-107T>C 0.0111821 0.0466 Uncertain 10_90512485_T->C 10 90512485 90512485 T C snp 350.77 0/1 99 40 23 17 0.42 exonic rs17112457 LIPK AU nonsynonymous SNV NM_001080518 exon9 c.T1172C p.I391T 0.0111821 0.0466 0.001877 0.0084 0.1124 0.47 T 1 N -1.086 T 0.0 T 0.0 T Pathogenic 10_90522182_T->C 10 90522182 90522182 T C snp 421.77 0/1 99 24 9 15 0.63 intronic rs843782 LIPN AR NM_001102469 exon2 c.900+120T>C 0.269569 0.3502 Uncertain 10_90524237_T->C 10 90524237 90524237 T C snp 1355.77 0/1 99 157 97 60 0.38 exonic rs430517 LIPN AR synonymous SNV NM_001102469 exon3 c.T297C p.A99A 0.270767 0.3502 0.238107 0.2462 0.3804 Uncertain 10_90524412_A->T 10 90524412 90524412 A T snp 1029.77 0/1 99 93 50 43 0.46 intronic rs398126 LIPN AR NM_001102469 exon3 c.3203+47A>T 0.270966 0.3512 0.223653 0.2368 0.3711 Uncertain 10_90530660_C->A 10 90530660 90530660 C A snp 830.77 0/1 99 74 36 38 0.51 exonic rs10788611 LIPN AR nonsynonymous SNV NM_001102469 exon6 c.C731A p.T244N 0.445088 0.5476 0.362859 0.4346 0.5836 0.49 T 0.0 P -1.035 T 0.168 T 0.276 T Pathogenic 10_90534698_G->A 10 90534698 90534698 G A snp 54.74 1/1 6 2 0 2 1.0 intronic rs303471 LIPN AR NM_001102469 exon8 c.13686-150G>A 0.732628 0.9187 Uncertain 10_90534759_G->A 10 90534759 90534759 G A snp 117.77 0/1 99 16 9 7 0.44 intronic rs11202849 LIPN AR NM_001102469 exon8 c.13686-89G>A 0.298123 0.501 Uncertain 10_90537942_C->T 10 90537942 90537942 C T snp 2292.77 0/1 99 184 86 98 0.53 exonic rs11202851 LIPN AR synonymous SNV NM_001102469 exon9 c.C1140T p.L380L 0.125599 0.2679 0.046002 0.0973 0.2750 Uncertain 10_90565660_A->- 10 90565660 90565660 A - indel 867.73 0/1 99 40 14 26 0.65 intronic rs139608926 LIPM AU NM_001128215 exon2 c.5401-2394delA 0.391573 0.5486 0.4077 0.5253 Uncertain 10_90568182_A->G 10 90568182 90568182 A G snp 1012.77 0/1 99 74 37 37 0.5 intronic rs3899739 LIPM AU NM_001128215 exon2 c.5519+10A>G 0.28095 0.3552 0.270258 0.3096 0.3622 Uncertain 10_90574222_C->G 10 90574222 90574222 C G snp 1091.77 1/1 81 34 0 34 1.0 intronic rs303524 LIPM AU NM_001128215 exon4 c.11633-64C>G 0.79393 0.9901 Uncertain 10_90576687_T->C 10 90576687 90576687 T C snp 1822.77 0/1 99 121 48 73 0.6 intronic rs138421910 LIPM AU NM_001128215 exon7 c.13991+43T>C 0.000798722 0.004 0.0003 0.0048 Uncertain 10_90576816_T->C 10 90576816 90576816 T C snp 46.77 0/1 31 3 1 2 0.67 intronic rs303523 LIPM AU NM_001128215 exon7 c.13991+172T>C 0.263379 0.374 Uncertain 10_90580144_C->T 10 90580144 90580144 C T snp 1111.77 0/1 99 106 57 49 0.46 exonic rs10788615 LIPM AU synonymous SNV NM_001128215 exon9 c.C1158T p.H386H 0.295527 0.4375 0.249233 0.3453 0.4444 Uncertain 10_90585819_G->A 10 90585819 90585819 G A snp 1350.77 0/1 99 122 62 60 0.49 exonic rs7893917 ANKRD22 AU synonymous SNV NM_144590 exon4 c.C375T p.G125G 0.341254 0.4365 0.328156 0.3867 0.4416 Uncertain 10_90588154_A->G 10 90588154 90588154 A G snp 1072.77 1/1 78 36 0 36 1.0 intronic rs1977537 ANKRD22 AU NM_144590 exon4 c.5618-161A>G 0.927915 0.995 Uncertain 10_90588161_C->T 10 90588161 90588161 C T snp 1245.77 1/1 90 41 0 41 1.0 intronic rs1029025 ANKRD22 AU NM_144590 exon4 c.5618-154C>T 0.701278 0.8313 Uncertain 10_90588535_G->A 10 90588535 90588535 G A snp 54.74 1/1 6 2 0 2 1.0 intronic rs1029024 ANKRD22 AU NM_144590 exon4 c.5726+112G>A 0.701278 0.8313 Uncertain 10_90674251_A->C 10 90674251 90674251 A C snp 717.77 0/1 99 54 24 30 0.56 intronic rs11202889 STAMBPL1 AU NM_020799 exon7 c.12825-39A>C 0.193291 0.255 0.080886 0.1387 0.2809 Uncertain 10_90683124_T->C 10 90683124 90683124 T C snp 996.77 1/1 72 38 0 38 1.0 UTR3 rs1530281 STAMBPL1 AU 0.679113 0.8968 Uncertain 10_90695265_G->T 10 90695265 90695265 G T snp 246.77 0/1 99 28 18 10 0.36 ncRNA_exonic rs3781211 ACTA2-AS1 AU 0.186701 0.256 Uncertain 10_90701645_A->G 10 90701645 90701645 A G snp 804.77 0/1 99 94 56 38 0.4 intronic rs714887 ACTA2 AU,AD NM_001613 exon5 c.6647+19A>G 0.169329 0.255 0.069891 0.1541 0.3336 CLINSIG=non-pathogenic;CLNDBN=not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000123499.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Uncertain 10_90762858_T->C 10 90762858 90762858 T C snp 1675.77 0/1 99 164 89 75 0.46 exonic rs9333296 FAS AU,AD synonymous SNV NM_000043 exon2 c.T103C p.L35L 0.00858626 0.0169 0.000384 0.0045 0.0144 ID=CM994746;DIS=Systemic lupus erythematosus, association with;TAG=DP;PUB=10402071 DP Uncertain 10_90767395_G->C 10 90767395 90767395 G C snp 918.77 1/1 69 24 0 24 1.0 intronic rs2031611 FAS AU,AD NM_152871 exon3 c.16823-61G>C 0.808706 0.9573 Uncertain 10_90767482_A->G 10 90767482 90767482 A G snp 987.77 0/1 99 104 60 44 0.42 exonic rs2229521 FAS AU,AD synonymous SNV NM_000043 exon3 c.A222G p.T74T 0.0407348 0.0218 0.032370 0.0564 0.0164 ID=CM994747;DIS=Systemic lupus erythematosus, association with;TAG=DP;PUB=10402071 DP Uncertain 10_90770439_C->G 10 90770439 90770439 C G snp 2215.77 0/1 99 194 102 92 0.47 intronic rs2296600 FAS AU,AD NM_000043 exon6 c.19876-70C>G 0.407348 0.501 0.370346 Uncertain 10_90771829_T->C 10 90771829 90771829 T C snp 1537.77 1/1 99 60 0 60 1.0 exonic rs2234978 FAS AU,AD synonymous SNV NM_000043 exon7 c.T642C p.T214T 0.775359 0.9573 0.695218 0.7561 0.9831 ID=CM045201;DIS=Thyroid carcinoma, association with;TAG=DP;PUB=15350189 DP Uncertain 10_90773303_A->G 10 90773303 90773303 A G snp 783.77 1/1 57 28 0 28 1.0 intronic rs1571019 FAS AU,AD NM_152871 exon7 c.22491+179A>G 0.468251 0.5208 Uncertain 10_90966546_C->T 10 90966546 90966546 C T snp 7317.77 1/1 99 250 1 249 1.0 exonic rs4078488 CH25H AU synonymous SNV NM_003956 exon1 c.G504A p.A168A 0.277157 0.7351 0.083654 0.2133 0.7727 Uncertain 10_90966996_C->G 10 90966996 90966996 C G snp 1946.77 1/1 99 68 0 68 1.0 exonic rs10887932 CH25H AU synonymous SNV NM_003956 exon1 c.G54C p.L18L 0.280351 0.7371 0.087756 0.2600 0.7732 Uncertain 10_90967093_T->C 10 90967093 90967093 T C snp 88.28 1/1 9 3 0 3 1.0 upstream rs4417181 CH25H AU 0.280152 0.7351 0.072073 0.2268 0.7056 Uncertain 10_90982081_A->G 10 90982081 90982081 A G snp 1805.77 1/1 99 56 0 56 1.0 intronic rs6586175 LIPA AR NM_000235 exon3 c.7683-186A>G 0.494609 0.8105 Uncertain 10_90983629_C->T 10 90983629 90983629 C T snp 2692.77 1/1 99 94 1 93 0.99 intronic rs1556478 LIPA AR NM_000235 exon4 c.9003+42C>T 0.454273 0.752 0.302706 0.3993 0.7843 Uncertain 10_90984787_T->G 10 90984787 90984787 T G snp 187.9 1/1 15 7 0 7 1.0 intronic rs2297473 LIPA AR NM_000235 exon5 c.10264-61T>G 0.455671 0.752 Uncertain 10_90984990_G->A 10 90984990 90984990 G A snp 2884.77 1/1 99 105 0 105 1.0 splicing rs2297472 LIPA AR NM_000235 exon5 c.10401+5G>A 0.31889 0.7004 0.165001 0.2781 0.7505 Pathogenic 10_91007470_C->A 10 91007470 91007470 C A snp 304.77 0/1 99 45 30 15 0.33 intronic rs2250781 LIPA AR NM_000235 exon9 c.32822+64C>A 0.629593 0.4325 Uncertain 10_91066460_T->A 10 91066460 91066460 T A snp 5247.77 1/1 99 192 0 192 1.0 exonic rs954439 IFIT2 AU synonymous SNV NM_001547 exon2 c.T747A p.V249V 0.68131 0.8571 0.595088 0.5572 0.8762 Uncertain 10_91066769_C->A 10 91066769 91066769 C A snp 4921.77 1/1 99 172 0 172 1.0 exonic rs1727 IFIT2 AU nonsynonymous SNV NM_001547 exon2 c.C1056A p.D352E 0.878794 0.9921 0.812191 0.8011 0.9898 1 T 0.000 P -0.994 T 0.0 T 0.0 T Pathogenic 10_91092189_C->G 10 91092189 91092189 C G snp 753.77 0/1 99 67 39 28 0.42 intronic rs12255504 IFIT3 AU NM_001549 exon1 c.5+4354C>G 0.219848 0.2302 Uncertain 10_91092558_T->A 10 91092558 91092558 T A snp 41.77 0/1 70 4 2 2 0.5 intronic rs10509571 IFIT3 AU NM_001031683 exon1 c.5+174T>A 0.259185 0.3343 Uncertain 10_91099630_T->C 10 91099630 91099630 T C snp 3255.77 0/1 99 250 122 128 0.51 exonic rs3780878 IFIT3 AU synonymous SNV NM_001031683 exon2 c.T1218C p.S406S 0.217053 0.2292 0.243119 0.2117 0.2315 Uncertain 10_91099943_C->G 10 91099943 91099943 C G snp 514.77 1/1 39 14 0 14 1.0 UTR3 rs10749607 IFIT3 AU 0.730631 0.9415 Uncertain 10_91137826_T->C 10 91137826 91137826 T C snp 4863.77 1/1 99 190 0 190 1.0 UTR5 rs304504 IFIT1B AU 0.711062 0.873 0.601402 Uncertain 10_91143529_T->A 10 91143529 91143529 T A snp 4739.77 1/1 99 171 0 171 1.0 exonic rs304494 IFIT1B AU synonymous SNV NM_001010987 exon2 c.T459A p.G153G 0.711661 0.873 0.619406 0.5712 0.8728 Uncertain 10_91152321_-->TTA 10 91152321 91152321 - TTA indel 707.73 0/1 99 43 28 15 0.35 UTR5 rs397798031 IFIT1 AU 0.242612 0.4435 Uncertain 10_91152593_G->A 10 91152593 91152593 G A snp 350.77 0/1 88 17 3 14 0.82 intronic rs303218 IFIT1 AU NM_001548 exon1 c.5+119G>A 0.275759 0.5486 Uncertain 10_91162497_A->G 10 91162497 91162497 A G snp 2438.77 1/1 99 86 0 86 1.0 exonic rs303211 IFIT1 AU synonymous SNV NM_001548 exon2 c.A465G p.K155K 0.976637 1 0.958558 0.9606 0.9999 Uncertain 10_91162677_C->T 10 91162677 91162677 C T snp 1278.77 0/1 99 106 53 53 0.5 exonic rs303210 IFIT1 AU synonymous SNV NM_001548 exon2 c.C645T p.D215D 0.243011 0.4395 0.146932 0.2350 0.4571 Uncertain 10_91172663_C->G 10 91172663 91172663 C G snp 104.28 1/1 9 5 0 5 1.0 intergenic rs304439 IFIT1 AU 0.716054 0.8562 0.6910 0.8864 Uncertain 10_91174674_C->G 10 91174674 91174674 C G snp 649.77 0/1 99 53 23 30 0.57 intronic rs304434 IFIT5 AU NM_012420 exon1 c.5+114C>G 0.240815 0.4375 Uncertain 10_91178000_C->T 10 91178000 91178000 C T snp 7440.77 1/1 99 250 0 250 1.0 exonic rs304448 IFIT5 AU synonymous SNV NM_012420 exon2 c.C1044T p.Y348Y 0.650759 0.8571 0.567738 0.5654 0.8656 Uncertain 10_91200744_A->G 10 91200744 91200744 A G snp 77.77 0/1 99 6 3 3 0.5 intronic rs75905759 SLC16A12 AD NM_213606 exon4 c.8044-120A>G 0.00399361 0.0179 Uncertain 10_91222287_A->C 10 91222287 91222287 A C snp 1036.77 0/1 99 84 36 48 0.57 exonic rs3740030 SLC16A12 AD nonsynonymous SNV NM_213606 exon3 c.T49G p.W17G 0.0688898 0.2242 0.063663 0.0835 0.2235 0.33 T 0.000 P -0.926 T Pathogenic 10_91352966_G->A 10 91352966 91352966 G A snp 2453.77 1/1 99 98 2 96 0.98 exonic rs2296616 PANK1 AU synonymous SNV NM_138316 exon4 c.C747T p.C249C 0.702476 0.9435 0.594879 0.6181 0.9358 Uncertain 10_91399011_G->T 10 91399011 91399011 G T snp 540.77 0/1 99 51 26 25 0.49 intronic rs76080358 PANK1 AU NM_148978 exon7 c.59291-4442G>T 0.0802716 0.2569 0.0354 0.2901 Uncertain 10_91470834_A->C 10 91470834 91470834 A C snp 724.77 0/1 99 55 25 30 0.55 exonic rs1048057 KIF20B AU synonymous SNV NM_001284259 exon6 c.A607C p.R203R 0.463458 0.5665 0.344586 0.3441 0.5842 Uncertain 10_91483908_G->C 10 91483908 91483908 G C snp 67.77 0/1 96 7 3 4 0.57 intronic rs7079174 KIF20B AU NM_016195 exon14 c.18809+48G>C 0.84984 0.9355 0.748797 0.7858 0.9254 Uncertain 10_91497207_A->G 10 91497207 91497207 A G snp 452.77 0/1 99 35 14 21 0.6 exonic rs78963463 KIF20B AU nonsynonymous SNV NM_001284259 exon20 c.A2609G p.N870S 0.0806709 0.2579 0.006313 0.0487 0.2869 0.56 T 0.0 P -1.079 T 0.0 T 0.001 T Pathogenic 10_91497912_A->G 10 91497912 91497912 A G snp 800.77 0/1 99 59 22 37 0.63 exonic rs79579856 KIF20B AU nonsynonymous SNV NM_001284259 exon20 c.A3314G p.K1105R 0.0806709 0.2579 0.006094 0.0486 0.2902 0.75 T 0.0 P -1.029 T 0.0 T 0.001 T Pathogenic 10_91498127_T->C 10 91498127 91498127 T C snp 1017.77 0/1 99 84 42 42 0.5 exonic rs1886996 KIF20B AU nonsynonymous SNV NM_001284259 exon20 c.T3529C p.C1177R 0.857428 0.9355 0.757156 0.7934 0.9252 0.57 T 0.0 P -0.949 T 0.0 T 0.001 T Pathogenic 10_91522605_G->C 10 91522605 91522605 G C snp 1280.77 0/1 99 118 63 55 0.47 intronic rs3740038 KIF20B AU NM_016195 exon29 c.57541+13G>C 0.849042 0.9355 0.747117 0.7949 0.9243 Uncertain 10_91532432_A->T 10 91532432 91532432 A T snp 179.77 0/1 99 21 14 7 0.33 intronic rs3758389 KIF20B AU NM_016195 exon32 c.67394-13A>T 0.462859 0.5655 0.341119 0.3802 0.6054 Uncertain 10_92503619_T->C 10 92503619 92503619 T C snp 1622.77 0/1 99 160 88 72 0.45 intronic rs3740048 HTR7 AU NM_019859 exon2 c.1209+172T>C 0.134585 0.2034 0.1599 0.1962 0.11 T 0.0 P -1.066 T Uncertain 10_92638707_-->AGT 10 92638707 92638707 - AGT indel 1364.73 1/1 72 24 0 24 1.0 intronic rs397812678 RPP30 AU NM_006413 exon5 c.7076-112insAGT 0.875799 0.7946 Uncertain 10_92654347_C->T 10 92654347 92654347 C T snp 139.03 1/1 12 4 0 4 1.0 intronic rs10881847 RPP30 AU NM_006413 exon7 c.22788-184C>T 0.327276 0.3651 Uncertain 10_92672564_T->C 10 92672564 92672564 T C snp 2657.77 1/1 99 91 0 91 1.0 UTR3 rs3939 ANKRD1 AU 0.354233 0.373 Uncertain 10_92678741_ATAAATAAATATATATAT->- 10 92678741 92678758 ATAAATAAATATATATAT - indel 20355.7 1/1 99 136 1 135 0.99 intronic rs11272507 ANKRD1 AU NM_014391 exon6 c.6107+12_6107+29delATAAATAAATATATATAT 0.6044 0.6456 Uncertain 10_92678765_A->G 10 92678765 92678765 A G snp 3511.77 1/1 99 121 0 121 1.0 intronic rs56177217 ANKRD1 AU NM_014391 exon6 c.6107+36A>G 0.441094 0.4355 0.6476 0.6559 Uncertain 10_92680929_A->G 10 92680929 92680929 A G snp 677.77 1/1 51 19 0 19 1.0 UTR5 rs10881855 ANKRD1 AU 0.66234 0.6558 Uncertain 10_93170250_C->G 10 93170250 93170250 C G snp 2158.77 1/1 99 85 0 85 1.0 exonic rs7081569 HECTD2 AU nonsynonymous SNV NM_001284274 exon1 c.C55G p.P19A 1 1 0.9998 1 1 T 0.001 P -0.990 T 0.0 T 0.0 T Pathogenic 10_93170366_G->- 10 93170366 93170366 G - indel 1149.73 1/1 84 31 0 31 1.0 ncRNA_intronic rs398097139 HECTD2-AS1 AU 1 1 0.999395 1 1 Uncertain 10_93577141_T->G 10 93577141 93577141 T G snp 266.8 1/1 21 10 0 10 1.0 intronic rs1539041 TNKS2 AU NM_025235 exon3 c.18539+155T>G 0.848243 0.9067 Uncertain 10_93579117_-->T 10 93579117 93579117 - T indel 220.73 1/1 14 26 2 24 0.92 intronic rs560738356 TNKS2 AU NM_025235 exon4 c.20616+54insT 0.0407348 0.0129 Uncertain 10_93586715_C->T 10 93586715 93586715 C T snp 2752.77 1/1 99 86 0 86 1.0 intronic rs2275646 TNKS2 AU NM_025235 exon8 c.28326-58C>T 0.129193 0.1587 Uncertain 10_93588201_G->C 10 93588201 93588201 G C snp 2422.77 1/1 99 86 0 86 1.0 intronic rs1572933 TNKS2 AU NM_025235 exon9 c.29716+38G>C 0.810104 0.9067 0.669845 0.6945 0.9093 Uncertain 10_93588208_G->A 10 93588208 93588208 G A snp 2317.77 1/1 99 79 0 79 1.0 intronic rs1572934 TNKS2 AU NM_025235 exon9 c.29716+45G>A 0.810104 0.9067 0.670178 0.6922 0.9086 Uncertain 10_93588242_C->T 10 93588242 93588242 C T snp 1383.77 1/1 99 42 0 42 1.0 intronic rs3740301 TNKS2 AU NM_025235 exon9 c.29716+79C>T 0.0385383 0.131 Uncertain 10_93600480_G->A 10 93600480 93600480 G A snp 2670.77 1/1 99 89 0 89 1.0 intronic rs17107140 TNKS2 AU NM_025235 exon14 c.42016+17G>A 0.117412 0.1587 0.078810 0.1192 0.2064 Uncertain 10_93609210_G->A 10 93609210 93609210 G A snp 557.77 1/1 42 16 0 16 1.0 intronic rs41286940 TNKS2 AU NM_025235 exon20 c.50821-58G>A 0.124201 0.1587 0.093284 Uncertain 10_93610896_C->T 10 93610896 93610896 C T snp 2867.77 1/1 99 94 0 94 1.0 intronic rs3758501 TNKS2 AU NM_025235 exon21 c.52525-76C>T 0.206869 0.1587 Uncertain 10_93611176_-->TATG 10 93611176 93611176 - TATG indel 778.73 1/1 36 13 0 13 1.0 intronic rs112177544 TNKS2 AU NM_025235 exon21 c.52646+83insTATG 0.807708 0.9067 Uncertain 10_93617306_A->G 10 93617306 93617306 A G snp 4051.77 1/1 99 155 0 155 1.0 intronic rs1340420 TNKS2 AU NM_025235 exon24 c.58840+19A>G 0.810104 0.9067 0.670075 0.7074 0.9143 Uncertain 10_93699955_G->A 10 93699955 93699955 G A snp 214.84 1/1 18 6 0 6 1.0 intronic rs17107223 BTAF1 AU NM_003972 exon3 c.15990+132G>A 0.0231629 0.0506 Uncertain 10_93702056_TGTGTG->- 10 93702056 93702061 TGTGTG - indel 581.74 1/1 27 9 0 9 1.0 intronic rs113869491 BTAF1 AU NM_003972 exon4 c.18345-122_18345-117delTGTGTG 0.560703 0.5327 Uncertain 10_93713363_A->G 10 93713363 93713363 A G snp 54.74 1/1 6 2 0 2 1.0 intronic rs10748574 BTAF1 AU NM_003972 exon6 c.29660-130A>G 0.954673 1 Uncertain 10_93716899_G->C 10 93716899 93716899 G C snp 428.77 1/1 33 14 0 14 1.0 intronic rs7894570 BTAF1 AU NM_003972 exon8 c.33148-82G>C 0.983227 1 Uncertain 10_93719498_TATATATATA->- 10 93719498 93719507 TATATATATA - indel 1588.73 1/1 45 15 0 15 1.0 intronic rs200052275 BTAF1 AU NM_003972 exon10 c.35708-43_35708-34delTATATATATA 0.103950 0.2209 0.1916 Uncertain 10_93773922_G->A 10 93773922 93773922 G A snp 141.03 1/1 12 4 0 4 1.0 intronic rs855562 BTAF1 AU NM_003972 exon32 c.89953+136G>A 0.973442 1 Uncertain 10_93775953_G->A 10 93775953 93775953 G A snp 307.78 1/1 24 8 0 8 1.0 intronic rs833371 BTAF1 AU NM_003972 exon33 c.92263-143G>A 0.955072 1 Uncertain 10_93812053_A->G 10 93812053 93812053 A G snp 1549.77 0/1 99 163 99 64 0.39 exonic rs769776899 CPEB3 AU synonymous SNV NM_001178137 exon10 c.T1971C p.H657H 8.265e-05 0.0010 Uncertain 10_93812334_G->A 10 93812334 93812334 G A snp 1126.77 1/1 84 34 0 34 1.0 intronic rs1711841 CPEB3 AU NM_001178137 exon1 c.228+138G>A 0.981629 1 Uncertain 10_93841227_A->G 10 93841227 93841227 A G snp 3193.69 1/1 99 125 0 125 1.0 exonic rs2676811 CPEB3 AU synonymous SNV NM_001178137 exon9 c.T1677C p.Y559Y 1 1 1.0000 1 Uncertain 10_93851714_T->C 10 93851714 93851714 T C snp 3727.77 1/1 99 138 0 138 1.0 intronic rs1229578 CPEB3 AU NM_001178137 exon3 c.39733+13T>C 0.755391 0.5169 0.868445 0.7754 0.5676 Uncertain 10_93999562_T->A 10 93999562 93999562 T A snp 2894.77 1/1 99 91 0 91 1.0 exonic rs3740302 CPEB3 AU synonymous SNV NM_001178137 exon2 c.A546T p.P182P 0.262181 0.3611 0.3527 0.5768 Uncertain 10_93999850_A->G 10 93999850 93999850 A G snp 4378.77 1/1 99 153 1 152 0.99 exonic rs3824734 CPEB3 AU synonymous SNV NM_001178137 exon2 c.T258C p.P86P 0.658546 0.499 0.708736 0.6266 0.5831 Uncertain 10_94225232_C->T 10 94225232 94225232 C T snp 37.77 0/1 66 6 4 2 0.33 intronic rs34934289 IDE AU NM_001165946 exon6 c.11232-200C>T 0.0211661 0.0437 Uncertain 10_94229912_C->T 10 94229912 94229912 C T snp 1818.77 0/1 99 122 56 66 0.54 intronic rs4646957 IDE AU NM_001165946 exon8 c.15810-98C>T 0.433107 0.2718 Uncertain 10_94234809_A->C 10 94234809 94234809 A C snp 86.77 0/1 30 4 1 3 0.75 intronic rs35223317 IDE AU NM_001165946 exon9 c.20518+91A>C 0.0211661 0.0437 Uncertain 10_94246992_C->A 10 94246992 94246992 C A snp 1848.77 0/1 99 182 101 81 0.45 exonic rs35426658 IDE AU synonymous SNV NM_004969 exon13 c.G1617T p.P539P 0.0211661 0.0437 0.013455 0.0216 0.0491 Uncertain 10_94268334_G->A 10 94268334 94268334 G A snp 80.77 0/1 70 7 3 4 0.57 intronic rs1832196 IDE AU NM_004969 exon19 c.54284-150G>A 0.226837 0.2232 Uncertain 10_94268401_T->C 10 94268401 94268401 T C snp 223.77 0/1 99 31 22 9 0.29 intronic rs1832195 IDE AU NM_004969 exon19 c.54284-83T>C 0.0211661 0.0437 Uncertain 10_94333550_G->A 10 94333550 94333550 G A snp 688.77 0/1 99 60 31 29 0.48 intronic rs145087520 IDE AU NM_004969 exon25 c.119478-128G>A 0.024361 0.0565 Uncertain 10_94366269_A->G 10 94366269 94366269 A G snp 144.84 0/1 18 6 1 5 0.83 intronic rs139504305 KIF11 AD NM_004523 exon3 c.13243-106A>G 0.00339457 0.0169 Uncertain 10_94366347_-->T 10 94366347 94366347 - T indel 57.73 0/1 95 27 19 8 0.3 intronic rs11393423 KIF11 AD NM_004523 exon3 c.13243-28insT 0.413139 0.5933 0.3999 0.4945 Uncertain 10_94367033_A->G 10 94367033 94367033 A G snp 37.77 0/1 66 8 6 2 0.25 intronic rs17107758 KIF11 AD NM_004523 exon4 c.13862+39A>G 0.178115 0.0873 0.158668 0.0919 0.1284 Uncertain 10_94369060_A->T 10 94369060 94369060 A T snp 199.77 0/1 92 10 3 7 0.7 intronic rs10882089 KIF11 AD NM_004523 exon6 c.16009-81A>T 0.593051 0.8532 Uncertain 10_94369099_G->T 10 94369099 94369099 G T snp 152.77 0/1 99 18 10 8 0.44 intronic rs185268677 KIF11 AD NM_004523 exon6 c.16009-42G>T 0.0211661 0.0417 0.007689 0.0069 0.0104 Uncertain 10_94376457_A->G 10 94376457 94376457 A G snp 443.77 0/1 99 30 14 16 0.53 intronic rs17875337 KIF11 AD NM_004523 exon9 c.23361-36A>G 0.0231629 0.0516 0.015154 0.0235 0.0543 Uncertain 10_94381093_T->C 10 94381093 94381093 T C snp 1642.77 0/1 99 144 75 69 0.48 intronic rs78836697 KIF11 AD NM_004523 exon10 c.28009-48T>C 0.0231629 0.0516 0.015224 0.0230 0.0527 Uncertain 10_94381337_C->T 10 94381337 94381337 C T snp 274.77 0/1 99 23 14 9 0.39 intronic rs77222691 KIF11 AD NM_004523 exon10 c.28098+107C>T 0.0235623 0.0516 Uncertain 10_94392459_A->T 10 94392459 94392459 A T snp 388.77 0/1 99 34 21 13 0.38 intronic rs17107764 KIF11 AD NM_004523 exon13 c.39318+9A>T 0.178115 0.0873 0.159004 0.0851 0.1187 Uncertain 10_94392513_-->TAATT 10 94392513 94392513 - TAATT indel 347.87 1/1 15 10 0 10 1.0 intronic rs10639509 KIF11 AD NM_004523 exon13 c.39318+63insTAATT 0.79992 0.9196 Uncertain 10_94409800_C->T 10 94409800 94409800 C T snp 1662.77 1/1 99 49 0 49 1.0 intronic rs6583833 KIF11 AD NM_004523 exon20 c.56611+57C>T 0.655351 0.7867 Uncertain 10_94449698_C->A 10 94449698 94449698 C A snp 180.77 0/1 99 15 8 7 0.47 UTR5 rs191640546 HHEX AU 0.0231629 0.0496 0.125 . Uncertain 10_94450061_G->A 10 94450061 94450061 G A snp 1255.77 0/1 99 119 64 55 0.46 exonic rs113121942 HHEX AU synonymous SNV NM_002729 exon1 c.G318A p.T106T 0.0231629 0.0496 0.012080 0.0252 0.0882 Uncertain 10_94452430_T->G 10 94452430 94452430 T G snp 1717.77 0/1 99 117 43 74 0.63 intronic rs2275729 HHEX AU NM_002729 exon3 c.2715-28T>G 0.0844649 0.0496 0.114332 0.0944 0.0517 Uncertain 10_94490230_CTTCTC->- 10 94490230 94490235 CTTCTC - indel 2942.73 0/1 99 107 55 52 0.49 intergenic rs148918949 HHEX AU Uncertain 10_94490320_C->G 10 94490320 94490320 C G snp 46.77 0/1 75 12 9 3 0.25 intergenic HHEX AU Uncertain 10_94490345_T->G 10 94490345 94490345 T G snp 33.77 0/1 62 8 5 3 0.38 intergenic rs111499473 HHEX AU Uncertain 10_94507612_A->G 10 94507612 94507612 A G snp 2141.77 1/1 99 82 0 82 1.0 intergenic rs2488066 HHEX AU 0.848642 0.9722 Uncertain 10_94511683_G->T 10 94511683 94511683 G T snp 6525.77 1/1 99 249 0 249 1.0 intergenic rs2096177 HHEX AU 0.862819 0.8919 Uncertain 10_94695617_C->T 10 94695617 94695617 C T snp 3007.77 1/1 99 117 0 117 1.0 exonic rs1326331 EXOC6 AU nonsynonymous SNV NM_001013848 exon12 c.C1172T p.T391I 0.888578 0.996 0.772643 0.7725 0.9972 1 T 1.0 P -0.955 T 0.0 T 0.0 T Pathogenic 10_94700460_-->T 10 94700460 94700460 - T indel 90.73 0/1 39 11 3 8 0.73 intronic rs201561143 EXOC6 AU NM_019053 exon13 c.92193-23insT 0.288139 0.4415 0.1965 0.3702 Uncertain 10_94816807_-->A 10 94816807 94816807 - A indel 3667.73 1/1 99 112 0 112 1.0 intronic rs60582805 EXOC6 AU NM_019053 exon21 c.208503+14insA 0.879193 0.9871 0.863978 0.8807 0.9898 Uncertain 10_94821374_A->G 10 94821374 94821374 A G snp 136.03 1/1 12 4 0 4 1.0 intronic rs2422138 CYP26C1 AR NM_183374 exon1 c.204+150A>G 0.955072 0.9881 Uncertain 10_94821380_A->C 10 94821380 94821380 A C snp 52.74 1/1 6 2 0 2 1.0 intronic rs4991544 CYP26C1 AR NM_183374 exon1 c.204+156A>C 0.955072 0.9881 Uncertain 10_94822895_G->T 10 94822895 94822895 G T snp 864.77 1/1 63 31 0 31 1.0 intronic rs12263200 CYP26C1 AR NM_183374 exon3 c.1732+143G>T 0.877796 0.9871 Uncertain 10_94834060_C->T 10 94834060 94834060 C T snp 1178.77 0/1 99 83 39 44 0.53 splicing rs185421897 CYP26A1 AU NM_000783 exon2 c.373-4C>T 0.00638978 0.0139 0.000619 0.0037 0.0148 Pathogenic 10_95070037_A->G 10 95070037 95070037 A G snp 1910.77 1/1 99 59 0 59 1.0 intronic rs2761286 MYOF AU NM_013451 exon2 c.3205+113A>G 0.86222 0.9107 Uncertain 10_95070080_C->T 10 95070080 95070080 C T snp 600.77 1/1 45 18 0 18 1.0 intronic rs2797581 MYOF AU NM_013451 exon2 c.3205+156C>T 0.857628 0.9077 Uncertain 10_95070526_G->A 10 95070526 95070526 G A snp 895.77 1/1 66 26 0 26 1.0 intronic rs787661 MYOF AU NM_013451 exon3 c.3681+126G>A 0.857827 0.9077 Uncertain 10_95072906_T->C 10 95072906 95072906 T C snp 2865.77 1/1 99 104 0 104 1.0 exonic rs787666 MYOF AU synonymous SNV NM_013451 exon51 c.A5760G p.R1920R 0.84345 0.9107 0.836152 0.8485 0.9125 Uncertain 10_95073046_A->G 10 95073046 95073046 A G snp 2474.77 1/1 99 88 0 88 1.0 intronic rs787667 MYOF AU NM_013451 exon4 c.6248+79A>G 0.719449 0.9028 Uncertain 10_95083205_TTTC->- 10 95083205 95083208 TTTC - indel 463.75 1/1 24 12 0 12 1.0 intronic rs148815470 MYOF AU NM_013451 exon8 c.16396+90_16396+93delTTTC 0.815895 0.9077 Uncertain 10_95088774_G->C 10 95088774 95088774 G C snp 54.74 1/1 6 2 0 2 1.0 intronic rs787687 MYOF AU NM_013451 exon10 c.21949+106G>C 0.697085 0.9028 Uncertain 10_95089312_T->C 10 95089312 95089312 T C snp 164.9 1/1 15 5 0 5 1.0 intronic rs1609573 MYOF AU NM_013451 exon11 c.22701-108T>C 0.70028 0.9028 Uncertain 10_95095600_G->C 10 95095600 95095600 G C snp 6618.77 1/1 99 230 0 230 1.0 intronic rs787689 MYOF AU NM_013451 exon14 c.28958-77G>C 0.669529 0.9752 Uncertain 10_95095667_A->G 10 95095667 95095667 A G snp 7646.77 1/1 99 250 0 250 1.0 intronic rs7097740 MYOF AU NM_013451 exon14 c.28958-10A>G 0.430112 0.8849 0.205388 0.3411 0.8850 Uncertain 10_95097537_T->C 10 95097537 95097537 T C snp 5584.77 1/1 99 203 1 202 1.0 intronic rs1614065 MYOF AU NM_013451 exon15 c.30852-34T>C 0.813299 0.9752 0.757311 0.7718 0.9728 Uncertain 10_95098144_T->C 10 95098144 95098144 T C snp 2874.77 1/1 99 97 0 97 1.0 intronic rs10786089 MYOF AU NM_013451 exon15 c.30951+474T>C 0.452476 0.8849 0.4485 0.935 Uncertain 10_95099849_G->A 10 95099849 95099849 G A snp 1051.77 1/1 78 32 0 32 1.0 intronic rs2761329 MYOF AU NM_013451 exon16 c.33190-60G>A 0.691494 0.9752 0.606877 Uncertain 10_95101480_C->T 10 95101480 95101480 C T snp 415.77 1/1 33 11 0 11 1.0 intronic rs1408031 MYOF AU NM_013451 exon16 c.33202+1559C>T 0.418331 0.8849 Uncertain 10_95109737_G->A 10 95109737 95109737 G A snp 2738.77 1/1 99 97 0 97 1.0 intronic rs2298158 MYOF AU NM_013451 exon19 c.43007+11G>A 0.462859 0.8859 0.241864 0.3530 0.8862 Uncertain 10_95121288_G->A 10 95121288 95121288 G A snp 1667.77 0/1 99 154 77 77 0.5 exonic rs116994405 MYOF AU synonymous SNV NM_013451 exon28 c.C2895T p.S965S 0.00419329 0.0188 0.000081 0.0014 0.0175 Uncertain 10_95123618_G->A 10 95123618 95123618 G A snp 1149.77 1/1 87 31 0 31 1.0 intronic rs10882221 MYOF AU NM_013451 exon28 c.56998-99G>A 0.520767 0.881 Uncertain 10_95132905_C->T 10 95132905 95132905 C T snp 931.77 1/1 69 25 0 25 1.0 intronic rs787647 MYOF AU NM_013451 exon31 c.66123+63C>T 0.86262 0.9931 Uncertain 10_95134850_C->A 10 95134850 95134850 C A snp 56.74 1/1 6 2 0 2 1.0 intronic rs2298156 MYOF AU NM_013451 exon32 c.67993+138C>A 0.48143 0.8552 Uncertain 10_95139526_A->G 10 95139526 95139526 A G snp 947.77 1/1 69 36 0 36 1.0 intronic rs10882229 MYOF AU NM_013451 exon34 c.72900-93A>G 0.61861 0.8542 Uncertain 10_95152624_T->C 10 95152624 95152624 T C snp 619.77 0/1 99 35 10 25 0.71 intronic rs788084 MYOF AU NM_013451 exon38 c.85954-49T>C 0.317891 0.2788 0.384706 0.4323 0.3329 Uncertain 10_95159025_T->G 10 95159025 95159025 T G snp 257.77 0/1 99 25 13 12 0.48 intronic rs701862 MYOF AU NM_013451 exon42 c.92429-123T>G 0.466853 0.2857 Uncertain 10_95162113_G->C 10 95162113 95162113 G C snp 780.77 0/1 99 61 29 32 0.52 intronic rs2272177 MYOF AU NM_013451 exon44 c.95385+9G>C 0.29972 0.6815 0.177089 0.2233 0.6344 Uncertain 10_95162496_A->T 10 95162496 95162496 A T snp 110.77 0/1 99 12 7 5 0.42 intronic rs701875 MYOF AU NM_013451 exon45 c.95897-120A>T 0.499401 0.3294 Uncertain 10_95162526_C->- 10 95162526 95162526 C - indel 227.73 0/1 99 28 18 10 0.36 intronic rs3841653 MYOF AU NM_013451 exon45 c.95897-90delC 0.495607 0.3304 Uncertain 10_95164040_A->G 10 95164040 95164040 A G snp 833.77 1/1 63 26 0 26 1.0 intronic rs788088 MYOF AU NM_013451 exon47 c.97257+64A>G 0.951877 1 0.956379 Uncertain 10_95168634_A->G 10 95168634 95168634 A G snp 866.77 0/1 99 96 58 38 0.4 exonic rs2296142 MYOF AU synonymous SNV NM_013451 exon7 c.T639C p.G213G 0.209465 0.6677 0.042615 0.1187 0.6445 Uncertain 10_95168735_C->G 10 95168735 95168735 C G snp 166.77 0/1 99 19 13 6 0.32 intronic rs2296143 MYOF AU NM_013451 exon48 c.101953+63C>G 0.207268 0.6677 Uncertain 10_95169583_T->C 10 95169583 95169583 T C snp 1275.77 0/1 99 88 43 45 0.51 intronic rs3818352 MYOF AU NM_013451 exon49 c.102777+87T>C 0.207468 0.6677 Uncertain 10_95185696_T->G 10 95185696 95185696 T G snp 96.28 1/1 9 3 0 3 1.0 intronic rs3740374 MYOF AU NM_013451 exon50 c.119108-131T>G 0.210463 0.6667 Uncertain 10_95212070_A->G 10 95212070 95212070 A G snp 143.03 1/1 12 5 0 5 1.0 intronic rs2985079 MYOF AU NM_013451 exon52 c.145179+172A>G 0.812101 0.8909 Uncertain 10_95216623_A->G 10 95216623 95216623 A G snp 663.77 0/1 99 58 26 32 0.55 intronic rs701882 MYOF AU NM_013451 exon53 c.149919-15A>G 0.566693 0.5198 0.627063 0.6422 0.5163 Uncertain 10_95237897_A->G 10 95237897 95237897 A G snp 46.77 0/1 75 6 3 3 0.5 intronic rs201891484 MYOF AU NM_013451 exon54 c.175144-3966A>G 0.0754792 0.245 0.1317 0.2676 Uncertain 10_95237963_A->G 10 95237963 95237963 A G snp 322.77 0/1 99 37 22 15 0.41 intronic rs3938769 MYOF AU NM_013451 exon54 c.175144-3900A>G 0.708866 0.4821 0.8246 0.4897 Uncertain 10_95238050_C->T 10 95238050 95238050 C T snp 449.77 0/1 99 53 29 24 0.45 intronic rs6583893 MYOF AU NM_013451 exon54 c.175144-3813C>T 0.709065 0.4821 Uncertain 10_95238178_C->T 10 95238178 95238178 C T snp 86.77 0/1 30 4 1 3 0.75 intronic rs7095171 MYOF AU NM_013451 exon54 c.175144-3685C>T 0.709265 0.4821 Uncertain 10_95238200_G->A 10 95238200 95238200 G A snp 46.74 1/1 6 2 0 2 1.0 intronic rs4917796 MYOF AU NM_013451 exon54 c.175144-3663G>A 0.709265 0.4821 Uncertain 10_95241680_G->A 10 95241680 95241680 G A snp 781.77 1/1 57 27 0 27 1.0 intronic rs7912414 MYOF AU NM_013451 exon54 c.175144-183G>A 0.231829 0.5198 Uncertain 10_95241986_C->A 10 95241986 95241986 C A snp 2066.77 1/1 99 82 0 82 1.0 UTR5 rs882873 MYOF AU 0.23123 0.5208 0.148457 0.1924 0.5208 Uncertain 10_95241999_A->C 10 95241999 95241999 A C snp 1746.77 1/1 99 69 1 68 0.99 UTR5 rs947597 MYOF AU 0.941494 1 0.949766 0.9844 0.9997 Uncertain 10_95262981_A->G 10 95262981 95262981 A G snp 5006.77 1/1 99 179 0 179 1.0 exonic rs7080916 CEP55 AU nonsynonymous SNV NM_001127182 exon3 c.A295G p.T99A 0.983027 1 0.984084 0.9952 1 0.58 T 0.0 P -1.041 T 0.0 T 0.0 T Pathogenic 10_95276673_G->A 10 95276673 95276673 G A snp 951.77 1/1 69 34 0 34 1.0 intronic rs4919224 CEP55 AU NM_018131 exon6 c.16883-18G>A 0.66853 0.5288 0.742233 0.7381 0.5196 Uncertain 10_95278829_A->G 10 95278829 95278829 A G snp 1717.77 1/1 99 49 0 49 1.0 intronic rs2280605 CEP55 AU NM_018131 exon7 c.18897+124A>G 0.627596 0.5863 Uncertain 10_95278841_C->T 10 95278841 95278841 C T snp 895.77 1/1 69 26 0 26 1.0 intronic rs2280606 CEP55 AU NM_018131 exon7 c.18897+136C>T 0.626597 0.5863 Uncertain 10_95279506_A->T 10 95279506 95279506 A T snp 1816.77 0/1 99 145 67 78 0.54 exonic rs2293277 CEP55 AU nonsynonymous SNV NM_001127182 exon8 c.A1133T p.H378L 0.559704 0.5437 0.610257 0.7033 0.5675 0.13 T 0.965 P -1.097 T 0.483 P 0.084 P Pathogenic 10_95279653_A->G 10 95279653 95279653 A G snp 224.84 1/1 18 6 0 6 1.0 intronic rs7068719 CEP55 AU NM_018131 exon8 c.19756+89A>G 0.978634 1 0.978549 0.9938 0.9996 Uncertain 10_95287643_-->A 10 95287643 95287643 - A indel 80.73 0/1 99 14 8 6 0.43 intronic rs34668129 CEP55 AU NM_018131 exon9 c.27898-63insA 0.495008 0.4683 Uncertain 10_95326676_C->T 10 95326676 95326676 C T snp 2786.77 0/1 99 250 133 117 0.47 exonic rs61866610 FFAR4 AU nonsynonymous SNV NM_181745 exon1 c.C199T p.R67C 0.15655 0.3591 0.043020 0.1269 0.4053 0.01 T 0.999 P -1.001 T 0.99 D 0.766 D Pathogenic 10_95336139_G->A 10 95336139 95336139 G A snp 289.77 0/1 99 22 12 10 0.45 intronic rs12220062 FFAR4 AU NM_181745 exon2 c.9499+163G>A 0.138379 0.3631 Uncertain 10_95359968_G->C 10 95359968 95359968 G C snp 894.77 1/1 66 28 0 28 1.0 intronic rs10882282 RBP4 AR,AD NM_006744 exon3 c.8318-181G>C 0.205671 0.4236 Uncertain 10_95380790_G->A 10 95380790 95380790 G A snp 758.77 0/1 99 54 27 27 0.5 intronic rs1223306 PDE6C AR NM_006204 exon3 c.8255+53G>A 0.491014 0.4851 0.502628 Uncertain 10_95381773_T->A 10 95381773 95381773 T A snp 2067.77 0/1 99 199 108 91 0.46 exonic rs701865 PDE6C AR nonsynonymous SNV NM_006204 exon4 c.T808A p.S270T 0.414337 0.4861 0.391281 0.3729 0.4801 0.6 T 0.0 P -0.931 T 0.0 T 0.0 T Pathogenic 10_95386740_C->A 10 95386740 95386740 C A snp 65.77 0/1 94 13 9 4 0.31 intronic rs2785138 PDE6C AR NM_006204 exon7 c.14146+112C>A 0.213259 0.372 Uncertain 10_95388914_A->G 10 95388914 95388914 A G snp 1093.77 0/1 99 101 55 46 0.46 intronic rs2857300 PDE6C AR NM_006204 exon8 c.16532-100A>G 0.395767 0.4792 Uncertain 10_95389041_G->A 10 95389041 95389041 G A snp 1416.77 0/1 99 150 86 64 0.43 exonic rs714550 PDE6C AR synonymous SNV NM_006204 exon8 c.G1098A p.A366A 0.395767 0.4792 0.366292 0.3496 0.4659 Uncertain 10_95389083_A->G 10 95389083 95389083 A G snp 1050.77 0/1 99 101 53 48 0.48 intronic rs714549 PDE6C AR NM_006204 exon8 c.16580+21A>G 0.396166 0.4792 0.368445 0.3516 0.4661 Uncertain 10_95389124_G->A 10 95389124 95389124 G A snp 654.77 0/1 99 56 30 26 0.46 intronic rs714551 PDE6C AR NM_006204 exon8 c.16580+62G>A 0.395767 0.4792 0.370784 Uncertain 10_95394455_T->C 10 95394455 95394455 T C snp 1845.77 1/1 99 55 0 55 1.0 intronic rs1856563 PDE6C AR NM_006204 exon9 c.22032-59T>C 0.954073 1 Uncertain 10_95395247_A->G 10 95395247 95395247 A G snp 1207.77 0/1 99 72 26 46 0.64 intronic rs616522 PDE6C AR NM_006204 exon10 c.22771-6A>G 0.728834 0.6419 0.737506 0.7397 0.6547 Uncertain 10_95395364_C->G 10 95395364 95395364 C G snp 2149.77 0/1 99 215 118 97 0.45 exonic rs3737228 PDE6C AR synonymous SNV NM_006204 exon10 c.C1380G p.T460T 0.235224 0.3661 0.229125 0.2643 0.3515 Uncertain 10_95400510_T->C 10 95400510 95400510 T C snp 152.77 0/1 99 10 5 5 0.5 intronic rs12780304 PDE6C AR NM_006204 exon14 c.28194-166T>C 0.411142 0.4325 Uncertain 10_95400947_A->G 10 95400947 95400947 A G snp 282.77 0/1 99 20 11 9 0.45 intronic rs1147644 PDE6C AR NM_006204 exon14 c.28304+161A>G 0.123602 0.0496 Uncertain 10_95405666_TA->- 10 95405666 95405667 TA - indel 887.73 0/1 99 41 21 20 0.49 intronic rs3085185 PDE6C AR NM_006204 exon15 c.33234-50_33234-49delTA 0.405751 0.4177 0.415335 Uncertain 10_95405814_C->A 10 95405814 95405814 C A snp 2639.77 0/1 99 228 109 119 0.52 intronic rs1409332 PDE6C AR NM_006204 exon15 c.33322+10C>A 0.413339 0.4177 0.423420 0.4604 0.4231 Uncertain 10_95549836_-->TT 10 95549836 95549836 - TT indel 110.06 0/1 11 15 1 14 0.93 intronic rs371933363 LGI1 AD NM_005097 exon5 c.31954-19insTT 0.453075 0.4911 0.4481 0.4411 Uncertain 10_95552653_T->C 10 95552653 95552653 T C snp 3200.06 1/1 99 123 0 123 1.0 exonic rs1111820 LGI1 AD synonymous SNV NM_005097 exon6 c.T657C p.F219F 0.977436 1 0.976934 0.9928 1 Uncertain 10_95658258_C->G 10 95658258 95658258 C G snp 3273.77 1/1 99 108 0 108 1.0 intronic rs11187724 SLC35G1 AU NM_001134658 exon2 c.4537-69C>G 0.53115 0.8611 Uncertain 10_95718474_A->G 10 95718474 95718474 A G snp 1966.77 1/1 99 67 0 67 1.0 ncRNA_exonic rs829225 PIPSL AU 0.770367 0.7748 Uncertain 10_95791613_T->C 10 95791613 95791613 T C snp 2455.77 0/1 99 184 86 98 0.53 exonic rs17109671 PLCE1 AR synonymous SNV NM_016341 exon2 c.T810C p.C270C 0.460463 0.4792 0.396540 0.3197 0.4716 Uncertain 10_95791763_G->A 10 95791763 95791763 G A snp 2843.77 0/1 99 218 104 114 0.52 exonic rs17109674 PLCE1 AR synonymous SNV NM_016341 exon2 c.G960A p.E320E 0.378195 0.4415 0.318235 0.2860 0.4365 Uncertain 10_95931087_G->T 10 95931087 95931087 G T snp 1580.77 0/1 99 151 84 67 0.44 exonic rs17417407 PLCE1 AR nonsynonymous SNV NM_016341 exon4 c.G1643T p.R548L 0.201078 0.1319 0.171727 0.1782 0.1158 0.12 T 0.984 P -1.129 T 0.997 D 0.96 D Pathogenic 10_95987313_C->T 10 95987313 95987313 C T snp 396.77 1/1 30 12 0 12 1.0 intronic rs11187825 PLCE1 AR NM_001165979 exon4 c.138357+105C>T 0.722644 0.9276 Uncertain 10_96014171_C->T 10 96014171 96014171 C T snp 779.77 1/1 57 23 0 23 1.0 intronic rs2274222 PLCE1 AR NM_001165979 exon9 c.165213+107C>T 0.0621006 0.0317 Uncertain 10_96014622_C->G 10 96014622 96014622 C G snp 2230.77 1/1 99 83 0 83 1.0 intronic rs10786156 PLCE1 AR NM_001165979 exon10 c.165798-27C>G 0.485224 0.5357 0.476353 0.4375 0.5515 Uncertain 10_96022619_T->- 10 96022619 96022619 T - indel 288.73 1/1 33 26 0 26 1.0 intronic rs11307441 PLCE1 AR NM_001165979 exon13 c.173638+130delT Uncertain 10_96022620_T->G 10 96022620 96022620 T G snp 303.77 0/1 99 20 9 11 0.55 intronic rs570439989 PLCE1 AR NM_001165979 exon13 c.173638+131T>G Uncertain 10_96025697_G->A 10 96025697 96025697 G A snp 5429.77 1/1 99 200 0 200 1.0 exonic rs41291134 PLCE1 AR synonymous SNV NM_016341 exon16 c.G4263A p.S1421S 0.0652955 0.0327 0.050717 0.0348 0.0437 Uncertain 10_96039597_G->C 10 96039597 96039597 G C snp 2527.77 1/1 99 97 0 97 1.0 exonic rs2274224 PLCE1 AR nonsynonymous SNV NM_016341 exon20 c.G4724C p.R1575P 0.486222 0.5377 0.475941 0.4378 0.5496 0.38 T 0.0 P -0.950 T 0.0 T 0.0 T ID=CM1314035;DIS=Oesophageal squamous cell carcinoma, reduced risk;TAG=DP;PUB=23688607 DP Pathogenic 10_96043732_A->G 10 96043732 96043732 A G snp 3097.77 1/1 99 119 0 119 1.0 ncRNA_intronic rs7084339 PLCE1-AS1 AU 0.317292 0.2401 Uncertain 10_96058298_C->T 10 96058298 96058298 C T snp 6147.77 1/1 99 214 1 213 1.0 exonic rs3765524 PLCE1 AR nonsynonymous SNV NM_016341 exon24 c.C5330T p.T1777I 0.307907 0.2381 0.320967 0.2711 0.2339 1 T 0.000 P -0.957 T 0.0 T 0.0 T ID=CM105437;DIS=Gastric adenocarcinoma and oesophageal SCC, association with;TAG=DP;PUB=20729852 DP Pathogenic 10_96064168_C->A 10 96064168 96064168 C A snp 650.77 1/1 48 19 0 19 1.0 intronic rs3818432 PLCE1 AR NM_001165979 exon24 c.215387-70C>A 0.227236 0.2282 Uncertain 10_96066341_A->G 10 96066341 96066341 A G snp 4474.77 1/1 99 170 2 168 0.99 exonic rs2274223 PLCE1 AR nonsynonymous SNV NM_016341 exon26 c.A5780G p.H1927R 0.298522 0.2391 0.318593 0.2846 0.2356 1 T 0.000 P -1.071 T 0.0 T 0.0 T ID=CM105436;DIS=Gastric adenocarcinoma and oesophageal SCC, association with;TAG=DP;PUB=20729852 DP Pathogenic 10_96068480_A->G 10 96068480 96068480 A G snp 3014.77 1/1 99 100 0 100 1.0 intronic rs11187850 PLCE1 AR NM_001165979 exon26 c.219605+24A>G 0.236422 0.2292 0.274627 0.2656 0.2254 Uncertain 10_96073325_C->T 10 96073325 96073325 C T snp 129.03 1/1 12 4 0 4 1.0 intronic rs6583935 PLCE1 AR NM_001165979 exon27 c.224288+186C>T 0.313698 0.2391 Uncertain 10_96109325_C->A 10 96109325 96109325 C A snp 96.28 1/1 9 3 0 3 1.0 intronic rs7085378 NOC3L AU NM_022451 exon12 c.15202+190C>A 0.312899 0.247 Uncertain 10_96112233_T->G 10 96112233 96112233 T G snp 348.78 1/1 27 10 0 10 1.0 intronic rs7092226 NOC3L AU NM_022451 exon14 c.18227+73T>G 0.278355 0.12 Uncertain 10_96122543_A->G 10 96122543 96122543 A G snp 2589.77 1/1 99 103 0 103 1.0 intronic rs7100430 NOC3L AU NM_022451 exon21 c.28653-43A>G 0.276358 0.12 0.319237 0.2571 0.1469 Uncertain 10_96122659_C->T 10 96122659 96122659 C T snp 2999.77 1/1 99 110 0 110 1.0 UTR5 rs76288667 NOC3L AU 0.0373403 0.0268 0.031099 Uncertain 10_96122826_C->A 10 96122826 96122826 C A snp 93.28 1/1 9 3 0 3 1.0 upstream rs7100870 NOC3L AU 0.0824681 0.0357 Uncertain 10_96163039_C->G 10 96163039 96163039 C G snp 1595.77 1/1 99 46 0 46 1.0 exonic rs2477534 TBC1D12 AU synonymous SNV NM_015188 exon1 c.C669G p.P223P 0.68111 0.8373 0.696523 0.7046 0.8594 Uncertain 10_96201842_T->C 10 96201842 96201842 T C snp 505.77 0/1 99 26 8 18 0.69 intronic rs745383976 TBC1D12 AU NM_015188 exon2 c.39406+66T>C Uncertain 10_96253099_A->G 10 96253099 96253099 A G snp 498.77 0/1 99 37 14 23 0.62 intronic rs75247803 TBC1D12 AU NM_015188 exon4 c.90751-22A>G 0.0125799 0.0486 0.000342 0.0059 0.0738 Uncertain 10_96271298_A->C 10 96271298 96271298 A C snp 819.77 1/1 60 29 0 29 1.0 intronic rs2860761 TBC1D12 AU NM_015188 exon9 c.108969-41A>C 0.992412 1 0.993352 0.9978 1 Uncertain 10_96305504_T->C 10 96305504 96305504 T C snp 1622.77 1/1 99 53 0 53 1.0 upstream rs2274096 HELLS AR 0.562101 0.7917 Uncertain 10_96305729_T->C 10 96305729 96305729 T C snp 2559.77 1/1 99 88 1 87 0.99 intronic rs10882474 HELLS AR NM_018063 exon1 c.31+20T>C 0.561701 0.7927 0.450708 0.5410 0.8086 Uncertain 10_96305830_G->A 10 96305830 96305830 G A snp 378.77 1/1 30 12 0 12 1.0 intronic rs73329627 HELLS AR NM_018063 exon1 c.31+121G>A 0.120607 0.0804 Uncertain 10_96313960_A->C 10 96313960 96313960 A C snp 723.77 0/1 99 88 50 38 0.43 exonic rs11188019 HELLS AR synonymous SNV NM_018063 exon3 c.A231C p.I77I 0.530551 0.746 0.454713 0.4695 0.7134 Uncertain 10_96322404_G->A 10 96322404 96322404 G A snp 851.77 1/1 60 34 0 34 1.0 intronic rs10882477 HELLS AR NM_018063 exon5 c.16769-43G>A 0.562101 0.7927 0.476929 0.4789 0.7796 Uncertain 10_96334578_T->C 10 96334578 96334578 T C snp 160.77 0/1 99 21 14 7 0.33 intronic rs7079934 HELLS AR NM_018063 exon9 c.28815+85T>C 0.521765 0.746 Uncertain 10_96336832_A->G 10 96336832 96336832 A G snp 1067.77 0/1 99 74 28 46 0.62 intronic rs11188029 HELLS AR NM_018063 exon10 c.30884+270A>G 0.0415335 0.0486 0.0080 0.0708 Uncertain 10_96336928_G->C 10 96336928 96336928 G C snp 212.77 0/1 99 28 17 11 0.39 intronic rs191958957 HELLS AR NM_018063 exon10 c.30884+366G>C 0.00419329 0.0208 Uncertain 10_96353201_G->A 10 96353201 96353201 G A snp 2122.77 1/1 99 67 0 67 1.0 intronic rs3781262 HELLS AR NM_018063 exon18 c.47577-54G>A 0.551118 0.7927 Uncertain 10_96353423_T->- 10 96353423 96353423 T - indel 110.27 1/1 1 25 1 24 0.96 intronic rs11346357 HELLS AR NM_018063 exon18 c.47694+51delT 0.548922 0.5804 0.5117 0.5330 Uncertain 10_96447562_T->A 10 96447562 96447562 T A snp 1386.77 0/1 99 106 51 55 0.52 exonic rs41291550 CYP2C18 AU stopgain NM_000772 exon2 c.T204A p.Y68X 0.0347444 0.0556 0.026757 0.0137 0.0673 1 T 1 A ID=CM963040;DIS=Null allele;TAG=DFP;PUB=8845859 DFP Pathogenic 10_96448129_A->G 10 96448129 96448129 A G snp 90.28 1/1 9 3 0 3 1.0 intronic rs1926706 CYP2C18 AU NM_000772 exon3 c.4455+98A>G 0.508586 0.4246 Uncertain 10_96466824_C->T 10 96466824 96466824 C T snp 363.77 1/1 30 11 0 11 1.0 intronic rs7904929 CYP2C18 AU NM_000772 exon5 c.23141+107C>T 0.977037 1 Uncertain 10_96495266_G->A 10 96495266 96495266 G A snp 734.77 0/1 99 65 38 27 0.42 UTR3 rs3740367 CYP2C18 AU 0.0541134 0.0397 Uncertain 10_96495284_G->C 10 96495284 96495284 G C snp 569.77 0/1 99 37 19 18 0.49 UTR3 rs1042192 CYP2C18 AU 0.0141773 0.0556 Uncertain 10_96522561_T->C 10 96522561 96522561 T C snp 1880.77 1/1 99 73 0 73 1.0 exonic rs17885098 CYP2C19 AR synonymous SNV NM_000769 exon1 c.T99C p.P33P 0.091853 0.0962 0.082039 0.0789 0.1072 Uncertain 10_96534768_G->A 10 96534768 96534768 G A snp 2618.77 0/1 99 250 148 102 0.41 intronic rs17878649 CYP2C19 AR NM_000769 exon2 c.12352-46G>A 0.0215655 0.0556 0.006305 0.0075 0.0685 Uncertain 10_96540410_G->A 10 96540410 96540410 G A snp 1837.77 0/1 99 137 56 81 0.59 exonic rs4986893 CYP2C19 AR stopgain NM_000769 exon4 c.G636A p.W212X 0.0141773 0.0556 0.000308 0.0055 0.0674 1 T 1 A CLINSIG=drug-response|drug-response;CLNDBN=Mephenytoin\x2c_poor_metabolism_of|Proguanil\x2c_poor_metabolism_of;CLNREVSTAT=no_assertion_criteria_provided|no_assertion_criteria_provided;CLNACC=RCV000018397.27|RCV000018398.27;CLNDSDB=MedGen|MedGen;CLNDSDBID=C1836024|C1836026 ID=CM942096;DIS=Poor metaboliser;TAG=DFP;PUB=7969038 DFP Pathogenic 10_96580140_T->G 10 96580140 96580140 T G snp 591.77 0/1 99 39 20 19 0.49 intronic rs28399511 CYP2C19 AR NM_000769 exon6 c.57790-112T>G 0.0485224 0.0397 Uncertain 10_96602623_G->A 10 96602623 96602623 G A snp 3305.77 0/1 99 250 128 122 0.49 exonic rs3758581 CYP2C19 AR nonsynonymous SNV NM_000769 exon7 c.G991A p.V331I 0.0485224 0.0397 0.047286 0.0624 0.0397 1 T 1 N -1.083 T 0.011 T 0.007 T ID=CM983294;DIS=Poor metaboliser;TAG=FP;PUB=10022751 FP Pathogenic 10_96609775_A->C 10 96609775 96609775 A C snp 3021.77 0/1 99 242 113 129 0.53 exonic rs17886522 CYP2C19 AR synonymous SNV NM_000769 exon8 c.A1251C p.G417G 0.0215655 0.0556 0.006229 0.0074 0.0674 Uncertain 10_96731788_A->G 10 96731788 96731788 A G snp 4981.77 1/1 99 158 0 158 1.0 intronic rs9332172 CYP2C9 AU,AD NM_000771 exon6 c.33421-72A>G 0.18111 0.0873 Uncertain 10_96741053_A->C 10 96741053 96741053 A C snp 3310.77 0/1 99 250 120 130 0.52 exonic rs1057910 CYP2C9 AU,AD nonsynonymous SNV NM_000771 exon7 c.A1075C p.I359L 0.0485224 0.0337 0.048439 0.0637 0.0338 0.11 T 0.033 A -0.915 T 0.002 T 0.058 T CLINSIG=drug-response|drug-response,drug-response|drug-response|drug-response|drug-response|drug-response;CLNDBN=Warfarin_response|Warfarin_response,Tolbutamide_poor_metabolizer|Warfarin_response|Phenytoin_response|Glipizide_poor_metabolizer|Warfarin_response;CLNREVSTAT=no_assertion_criteria_provided|no_assertion_criteria_provided,no_assertion_criteria_provided|no_assertion_criteria_provided|no_assertion_criteria_provided|no_assertion_criteria_provided|no_assertion_criteria_provided;CLNACC=RCV000150377.1|RCV000154312.1,RCV000008916.1|RCV000008917.2|RCV000008918.2|RCV000008919.3|RCV000150378.1;CLNDSDB=MedGen:OMIM|MedGen:OMIM,.|MedGen:OMIM|MedGen|.|MedGen:OMIM;CLNDSDBID=CN078029:122700|CN078029:122700,.|CN078029:122700|CN069167|.|CN078029:122700 ID=CM960481;DIS=Poor metaboliser;TAG=DFP;PUB=8873220 DFP Pathogenic 10_96745984_A->T 10 96745984 96745984 A T snp 932.77 0/1 99 61 27 34 0.56 intronic rs9332230 CYP2C9 AU,AD NM_000771 exon8 c.47492+53A>T 0.0489217 0.0327 Uncertain 10_96748737_A->T 10 96748737 96748737 A T snp 1632.77 0/1 99 144 76 68 0.47 exonic rs1057911 CYP2C9 AU,AD synonymous SNV NM_000771 exon9 c.A1425T p.G475G 0.0489217 0.0327 0.048747 0.0638 0.0338 Uncertain 10_96749181_T->A 10 96749181 96749181 T A snp 448.77 0/1 99 49 26 23 0.47 downstream rs9332245 CYP2C9 AU,AD 0.0483227 0.0327 0.1063 0.0149 Uncertain 10_96796861_G->A 10 96796861 96796861 G A snp 645.77 0/1 99 59 29 30 0.51 UTR3 rs1058932 CYP2C8 AU 0.301118 0.38 0.244272 0.2303 0.3917 Uncertain 10_96802598_A->T 10 96802598 96802598 A T snp 2715.77 1/1 99 90 1 89 0.99 intronic rs2275620 CYP2C8 AU NM_001198855 exon3 c.5762-48A>T 0.597843 0.4236 0.672613 0.5891 0.4320 Uncertain 10_96818418_C->T 10 96818418 96818418 C T snp 54.74 1/1 6 2 0 2 1.0 intronic rs1926705 CYP2C8 AU NM_001198855 exon5 c.21384+150C>T 0.649561 0.4534 Uncertain 10_96827119_-->A 10 96827119 96827119 - A indel 746.73 0/1 99 84 50 34 0.4 splicing rs11572078 CYP2C8 AU NM_001198855 exon7 c.30230+5insA 0.34984 0.38 0.304122 0.2679 0.3915 Pathogenic 10_96827178_T->C 10 96827178 96827178 T C snp 3260.77 1/1 99 117 0 117 1.0 intronic rs2275622 CYP2C8 AU NM_001198855 exon7 c.30230+64T>C 0.646366 0.4534 0.6316 0.4637 1 T 0.0 P -0.952 T 0.0 T 0.0 T Uncertain 10_96828323_T->C 10 96828323 96828323 T C snp 762.77 0/1 99 71 40 31 0.44 intronic rs2071426 CYP2C8 AU NM_001198855 exon9 c.31439T>C 0.20008 0.0585 Uncertain 10_96828633_C->T 10 96828633 96828633 C T snp 40.77 0/1 69 5 3 2 0.4 intronic rs11572067 CYP2C8 AU NM_001198855 exon9 c.31501+248C>T 0.0297524 0.0317 Uncertain 10_96954298_A->G 10 96954298 96954298 A G snp 1131.77 0/1 99 91 47 44 0.48 exonic rs591157 ACSM6 AU nonsynonymous SNV NM_207321 exon2 c.A56G p.E19G 0.389976 0.0466 0.543583 0.5077 0.0241 0.47 T 0.000 P -0.955 T 0.0 T 0.0 T Pathogenic 10_96954360_T->A 10 96954360 96954360 T A snp 1612.77 0/1 99 132 63 69 0.52 exonic rs11188225 ACSM6 AU nonsynonymous SNV NM_207321 exon2 c.T118A p.C40S 0.197284 0.0456 0.284056 0.3305 0.0255 0.73 T 0.000 P -0.908 T 0.038 T 0.007 T Pathogenic 10_96954473_A->T 10 96954473 96954473 A T snp 1177.77 0/1 99 73 29 44 0.6 intronic rs592041 ACSM6 AU NM_207321 exon2 c.192+39A>T 0.389976 0.0466 0.543364 0.5075 0.0261 Uncertain 10_96954479_G->A 10 96954479 96954479 G A snp 1102.77 0/1 99 67 27 40 0.6 intronic rs592055 ACSM6 AU NM_207321 exon2 c.192+45G>A 0.403155 0.0466 0.554972 0.5082 0.0262 Uncertain 10_96954511_T->A 10 96954511 96954511 T A snp 1323.77 1/1 96 43 0 43 1.0 intronic rs681838 ACSM6 AU NM_207321 exon2 c.192+77T>A 0.980232 1 Uncertain 10_96961184_G->A 10 96961184 96961184 G A snp 270.77 0/1 99 36 25 11 0.31 intronic rs602941 ACSM6 AU NM_207321 exon3 c.7499-557G>A 0.405751 0.0466 0.5489 0.0231 Uncertain 10_96966955_T->- 10 96966955 96966955 T - indel 2179.73 0/1 99 142 65 77 0.54 intronic rs398014507 ACSM6 AU NM_207321 exon4 c.12722-9delT 0.396166 0.0466 0.4923 0.0454 Uncertain 10_96970361_A->C 10 96970361 96970361 A C snp 1765.77 0/1 99 168 90 78 0.46 intronic rs16872 ACSM6 AU NM_207321 exon5 c.16164-45A>C 0.360024 0.0456 0.478548 0.4070 0.0417 Uncertain 10_96971504_T->C 10 96971504 96971504 T C snp 56.74 1/1 6 2 0 2 1.0 intronic rs12262878 ACSM6 AU NM_207321 exon6 c.17392-130T>C 0.289736 0.0456 Uncertain 10_96972889_G->A 10 96972889 96972889 G A snp 284.77 0/1 99 21 10 11 0.52 intronic rs17524438 ACSM6 AU NM_207321 exon7 c.18455+192G>A 0.204073 0.0456 Uncertain 10_96974518_A->T 10 96974518 96974518 A T snp 331.77 0/1 99 17 6 11 0.65 intronic rs595478 ACSM6 AU NM_207321 exon8 c.20366-90A>T 0.407348 0.0466 Uncertain 10_96974552_C->T 10 96974552 96974552 C T snp 392.77 0/1 99 31 15 16 0.52 intronic rs595420 ACSM6 AU NM_207321 exon8 c.20366-56C>T 0.405551 0.0466 Uncertain 10_96974803_A->G 10 96974803 96974803 A G snp 1245.77 0/1 99 101 47 54 0.53 intronic rs594448 ACSM6 AU NM_207321 exon8 c.20490+71A>G 0.405551 0.0466 Uncertain 10_96979504_T->C 10 96979504 96979504 T C snp 71.77 0/1 99 9 6 3 0.33 intronic rs11188228 ACSM6 AU NM_207321 exon9 c.25405-143T>C 0.244209 0.0456 Uncertain 10_96979775_C->G 10 96979775 96979775 C G snp 876.77 0/1 99 69 37 32 0.46 intronic rs11188229 ACSM6 AU NM_207321 exon9 c.25486+47C>G 0.204273 0.0456 0.293473 0.3132 0.0412 Uncertain 10_96979830_C->G 10 96979830 96979830 C G snp 98.77 0/1 99 12 8 4 0.33 intronic rs628102 ACSM6 AU NM_207321 exon9 c.25486+102C>G 0.405551 0.0466 Uncertain 10_96985198_G->A 10 96985198 96985198 G A snp 915.77 0/1 99 54 18 36 0.67 intronic rs489807 ACSM6 AU NM_207321 exon10 c.30906+50G>A 0.407548 0.0466 0.561980 0.5125 0.0236 Uncertain 10_96997609_G->A 10 96997609 96997609 G A snp 573.77 0/1 99 63 35 28 0.44 UTR3 rs11872 PDLIM1 AU 0.0573083 0.0377 Uncertain 10_97081996_A->G 10 97081996 97081996 A G snp 141.03 1/1 12 4 0 4 1.0 intronic rs11188276 SORBS1 AU NM_001290294 exon3 c.6963+218A>G 0.139776 0.4077 Uncertain 10_97098942_A->G 10 97098942 97098942 A G snp 783.77 0/1 99 65 32 33 0.51 exonic rs554056325 SORBS1 AU nonsynonymous SNV NM_001034954 exon27 c.T2813C p.M938T 0.000199681 0.001 4.151e-05 0.0006 0.46 T 1 N -1.020 T 0.008 T 0.017 T Pathogenic 10_97106165_T->C 10 97106165 97106165 T C snp 1063.77 1/1 75 43 0 43 1.0 exonic rs726176 SORBS1 AU synonymous SNV NM_001034954 exon24 c.A2427G p.L809L 0.407947 0.6696 0.254267 0.3555 0.6647 Uncertain 10_97110879_C->T 10 97110879 97110879 C T snp 303.78 1/1 24 9 0 9 1.0 intronic rs6583995 SORBS1 AU NM_001290294 exon10 c.36150-86C>T 0.803914 0.7222 Uncertain 10_97114560_C->T 10 97114560 97114560 C T snp 512.77 1/1 42 18 0 18 1.0 intronic rs2274632 SORBS1 AU NM_001290294 exon11 c.39823-78C>T 0.165535 0.4008 Uncertain 10_97127264_T->C 10 97127264 97127264 T C snp 293.77 0/1 99 17 6 11 0.65 intronic rs6583997 SORBS1 AU NM_001290294 exon13 c.52591-142T>C 0.803115 0.7649 Uncertain 10_97127462_C->A 10 97127462 97127462 C A snp 947.77 0/1 99 72 33 39 0.54 splicing rs6583998 SORBS1 AU NM_001290294 exon13 c.52641+6C>A 0.82508 0.7649 0.761725 0.7851 0.7684 Pathogenic 10_97127577_C->T 10 97127577 97127577 C T snp 40.77 0/1 69 5 3 2 0.4 intronic rs7074224 SORBS1 AU NM_001290294 exon13 c.52641+121C>T 0.784944 0.7629 Uncertain 10_97141523_G->A 10 97141523 97141523 G A snp 2341.77 0/1 99 232 122 110 0.47 exonic rs2274490 SORBS1 AU synonymous SNV NM_001034954 exon16 c.C1572T p.D524D 0.597444 0.6498 0.545902 0.6197 0.6356 Uncertain 10_97154682_A->T 10 97154682 97154682 A T snp 781.77 0/1 99 57 29 28 0.49 intronic rs55688714 SORBS1 AU NM_001290298 exon17 c.79942-75A>T 0.422125 0.2589 Uncertain 10_97154698_G->A 10 97154698 97154698 G A snp 990.77 0/1 99 74 33 41 0.55 intronic rs11188311 SORBS1 AU NM_001290298 exon17 c.79942-59G>A 0.448083 0.2589 0.484888 Uncertain 10_97156908_T->C 10 97156908 97156908 T C snp 2343.77 0/1 99 225 125 100 0.44 intronic rs17110707 SORBS1 AU NM_001290294 exon20 c.82161-68T>C 0.180511 0.4226 0.095488 Uncertain 10_97158713_G->A 10 97158713 97158713 G A snp 502.77 0/1 99 43 24 19 0.44 intronic rs2274489 SORBS1 AU NM_001290294 exon21 c.83958-60G>A 0.256589 0.0823 Uncertain 10_97165811_G->A 10 97165811 97165811 G A snp 1408.77 0/1 99 131 69 62 0.47 intronic rs3818540 SORBS1 AU NM_001290294 exon22 c.91059-63G>A 0.230232 0.4216 0.125712 Uncertain 10_97166103_T->C 10 97166103 97166103 T C snp 380.77 0/1 93 16 4 12 0.75 intronic rs2274488 SORBS1 AU NM_001290294 exon22 c.91089+199T>C 0.577676 0.7163 Uncertain 10_97174164_A->G 10 97174164 97174164 A G snp 1235.77 0/1 99 100 48 52 0.52 intronic rs3818539 SORBS1 AU NM_001290294 exon24 c.99435-86A>G 0.197684 0.4345 0.1376 0.4110 Uncertain 10_97175465_C->T 10 97175465 97175465 C T snp 1628.77 0/1 99 133 65 68 0.51 intronic rs41315247 SORBS1 AU NM_001290294 exon24 c.99804+846C>T 0.01877 0.0179 0.0219 0.0149 Uncertain 10_97175752_G->C 10 97175752 97175752 G C snp 1652.77 0/1 99 127 64 63 0.5 intronic rs61868669 SORBS1 AU NM_001290294 exon24 c.99804+1133G>C 0.0167732 0.0179 0.0267 0.0149 Uncertain 10_97181855_T->C 10 97181855 97181855 T C snp 590.77 0/1 99 59 32 27 0.46 intronic rs17849163 SORBS1 AU NM_001290294 exon25 c.107015+25T>C 0.0587061 0.0179 0.132554 0.1307 0.0331 Uncertain 10_97192324_A->G 10 97192324 97192324 A G snp 3200.06 1/1 99 120 0 120 1.0 exonic rs943542 SORBS1 AU nonsynonymous SNV NM_001034954 exon4 c.T182C p.L61P 0.980831 1 0.980163 0.9937 1 1 T 0.908 P -0.946 T 0.001 T 0.002 T Pathogenic 10_97192452_A->C 10 97192452 97192452 A C snp 418.77 0/1 99 40 24 16 0.4 intronic rs732101 SORBS1 AU NM_001290294 exon27 c.117518+119A>C 0.48143 0.6558 Uncertain 10_97380926_G->A 10 97380926 97380926 G A snp 1745.77 1/1 99 64 0 64 1.0 exonic rs117709404 ALDH18A1 AR,AD,AO synonymous SNV NM_002860 exon12 c.C1329T p.I443I 0.00758786 0.0347 0.0043 0.0484 Uncertain 10_97385242_A->G 10 97385242 97385242 A G snp 2310.77 1/1 99 72 0 72 1.0 intronic rs10509688 ALDH18A1 AR,AD,AO NM_001017423 exon8 c.18694+30A>G 0.19369 0.502 0.129632 0.1756 0.4864 Uncertain 10_97392969_G->A 10 97392969 97392969 G A snp 1504.77 1/1 99 49 0 49 1.0 intronic rs3750701 ALDH18A1 AR,AD,AO NM_001017423 exon12 c.26288+163G>A 0.624201 0.749 Uncertain 10_97392993_T->C 10 97392993 97392993 T C snp 1037.77 1/1 75 34 0 34 1.0 intronic rs3750700 ALDH18A1 AR,AD,AO NM_001017423 exon12 c.26288+187T>C 0.642173 0.749 Uncertain 10_97393475_C->T 10 97393475 97393475 C T snp 893.77 1/1 66 28 0 28 1.0 intronic rs11188409 ALDH18A1 AR,AD,AO NM_001017423 exon13 c.26888+69C>T 0.264377 0.5437 Uncertain 10_97397227_T->C 10 97397227 97397227 T C snp 1372.77 1/1 99 45 0 45 1.0 intronic rs2275273 ALDH18A1 AR,AD,AO NM_001017423 exon15 c.30675+34T>C 0.642572 0.749 0.666692 0.6862 0.7618 Uncertain 10_97412921_T->G 10 97412921 97412921 T G snp 672.77 1/1 51 20 0 20 1.0 intronic rs9787589 ALDH18A1 AR,AD,AO NM_001017423 exon17 c.46528-125T>G 0.715256 0.7877 Uncertain 10_97440103_T->G 10 97440103 97440103 T G snp 139.03 1/1 12 4 0 4 1.0 intronic rs78674704 TCTN3 AR NM_001143973 exon2 c.16405-125T>G 0.425919 0.7143 Uncertain 10_97440104_A->G 10 97440104 97440104 A G snp 139.03 1/1 12 4 0 4 1.0 intronic rs74515375 TCTN3 AR NM_001143973 exon2 c.16405-124A>G 0.425919 0.7143 Uncertain 10_97440107_C->G 10 97440107 97440107 C G snp 123.03 1/1 12 4 0 4 1.0 intronic rs77884996 TCTN3 AR NM_001143973 exon2 c.16405-121C>G 0.425919 0.7143 Uncertain 10_97440108_A->C 10 97440108 97440108 A C snp 208.84 1/1 18 6 0 6 1.0 intronic rs75892570 TCTN3 AR NM_001143973 exon2 c.16405-120A>C 0.425919 0.7143 Uncertain 10_97440494_A->- 10 97440494 97440494 A - indel 429.73 1/1 33 12 0 12 1.0 intronic rs143448527 TCTN3 AR NM_001143973 exon2 c.16543+128delA 0.203674 0.5714 Uncertain 10_97446206_G->A 10 97446206 97446206 G A snp 3461.77 1/1 99 118 0 118 1.0 intronic rs2297788 TCTN3 AR NM_001143973 exon6 c.22428-45G>A 0.42512 0.7133 0.352530 0.3546 0.7106 Uncertain 10_97447373_A->T 10 97447373 97447373 A T snp 3344.77 1/1 99 128 0 128 1.0 exonic rs10786229 TCTN3 AR synonymous SNV NM_015631 exon4 c.T603A p.T201T 0.42472 0.7133 0.351761 0.3544 0.7104 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000118618.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 10_97471736_C->G 10 97471736 97471736 C G snp 64.77 0/1 93 38 32 6 0.16 intergenic TCTN3 AR 0.02 T 1 N -0.985 T 0.087 T 0.018 T Uncertain 10_97471769_T->C 10 97471769 97471769 T C snp 49.77 0/1 78 49 42 7 0.14 intergenic rs201614049 TCTN3 AR Uncertain 10_97471774_C->T 10 97471774 97471774 C T snp 51.77 0/1 80 50 43 7 0.14 intergenic rs765736814 TCTN3 AR 8.287e-06 0 Uncertain 10_97471776_C->A 10 97471776 97471776 C A snp 49.77 0/1 78 51 44 7 0.14 intergenic TCTN3 AR Uncertain 10_97471778_C->T 10 97471778 97471778 C T snp 51.77 0/1 80 51 44 7 0.14 intergenic rs751079207 TCTN3 AR 8.29e-06 0 Uncertain 10_97471796_G->A 10 97471796 97471796 G A snp 57.77 0/1 86 50 43 7 0.14 intergenic rs559528746 TCTN3 AR 0.000199681 8.295e-06 0 Uncertain 10_97471799_A->G 10 97471799 97471799 A G snp 57.77 0/1 86 50 43 7 0.14 intergenic TCTN3 AR Uncertain 10_97471806_A->T 10 97471806 97471806 A T snp 60.77 0/1 89 51 44 7 0.14 intergenic TCTN3 AR Uncertain 10_97471811_C->A 10 97471811 97471811 C A snp 63.77 0/1 92 51 44 7 0.14 intergenic TCTN3 AR Uncertain 10_97471824_C->T 10 97471824 97471824 C T snp 60.77 0/1 89 52 45 7 0.13 intergenic rs201384606 TCTN3 AR Uncertain 10_97471832_G->A 10 97471832 97471832 G A snp 63.77 0/1 92 51 44 7 0.14 intergenic TCTN3 AR Uncertain 10_97471837_A->T 10 97471837 97471837 A T snp 63.77 0/1 92 50 43 7 0.14 intergenic TCTN3 AR Uncertain 10_97471843_A->C 10 97471843 97471843 A C snp 63.77 0/1 92 51 44 7 0.14 intergenic TCTN3 AR Uncertain 10_97471853_C->T 10 97471853 97471853 C T snp 39.77 0/1 68 46 40 6 0.13 intergenic TCTN3 AR Uncertain 10_97471925_T->C 10 97471925 97471925 T C snp 343.78 1/1 27 9 0 9 1.0 intergenic rs12244559 TCTN3 AR 0.422724 0.7103 Uncertain 10_97698222_T->G 10 97698222 97698222 T G snp 43.77 0/1 70 4 2 2 0.5 ncRNA_intronic rs1336457 ENTPD1-AS1 AU 0.33766 0.62 Uncertain 10_97698370_C->T 10 97698370 97698370 C T snp 812.77 0/1 99 63 25 38 0.6 ncRNA_intronic rs4918979 ENTPD1-AS1 AU 0.765176 0.8631 0.6797 0.8663 Uncertain 10_97748040_G->A 10 97748040 97748040 G A snp 797.77 0/1 99 62 29 33 0.53 ncRNA_intronic rs7900838 ENTPD1-AS1 AU 0.621206 0.8075 Uncertain 10_97769466_T->C 10 97769466 97769466 T C snp 46.77 0/1 33 3 1 2 0.67 ncRNA_intronic rs7913835 ENTPD1-AS1 AU 0.653155 0.8254 Uncertain 10_97769856_G->C 10 97769856 97769856 G C snp 312.77 0/1 99 19 7 12 0.63 ncRNA_intronic rs4145209 ENTPD1-AS1 AU 0.652955 0.8254 Uncertain 10_97772253_C->T 10 97772253 97772253 C T snp 213.77 0/1 99 21 12 9 0.43 ncRNA_intronic rs3748224 ENTPD1-AS1 AU 0.652356 0.8254 0.614793 0.6082 0.8254 Uncertain 10_97772496_T->A 10 97772496 97772496 T A snp 462.77 0/1 99 36 20 16 0.44 ncRNA_intronic rs10748652 ENTPD1-AS1 AU 0.653355 0.8254 0.614598 0.6115 0.8260 Uncertain 10_97779219_G->A 10 97779219 97779219 G A snp 80.77 0/1 92 6 3 3 0.5 ncRNA_intronic rs1414921 ENTPD1-AS1 AU 0.714058 0.8522 Uncertain 10_97816420_G->A 10 97816420 97816420 G A snp 3164.77 0/1 99 250 119 131 0.52 ncRNA_intronic rs7099399 ENTPD1-AS1 AU 0.585663 0.8016 0.497919 0.5320 0.8219 Uncertain 10_97918320_A->G 10 97918320 97918320 A G snp 1948.77 0/1 99 173 93 80 0.46 exonic ZNF518A AU unknown 0.0758786 0.1786 0.023222 0.0271 0.1709 Uncertain 10_97918915_A->C 10 97918915 97918915 A C snp 1403.77 0/1 99 138 73 65 0.47 exonic ZNF518A AU unknown 0.0758786 0.1786 0.023361 0.0275 0.1731 Uncertain 10_97920099_-->C 10 97920099 97920099 - C indel 10328.7 1/1 99 248 0 248 1.0 exonic rs67530050 ZNF518A AU unknown 1 1 1 1 Uncertain 10_97964154_C->T 10 97964154 97964154 C T snp 943.77 1/1 69 26 0 26 1.0 intronic BLNK AR NM_001258442 exon5 c.12559-133C>T 0.940495 1 Uncertain 10_97964157_A->G 10 97964157 97964157 A G snp 197.77 0/1 99 26 19 7 0.27 intronic BLNK AR NM_001258442 exon5 c.12559-130A>G 0.383986 0.3304 Uncertain 10_97964261_C->G 10 97964261 97964261 C G snp 1454.77 0/1 99 151 86 65 0.43 intronic BLNK AR NM_001258442 exon5 c.12559-26C>G 0.109625 0.2976 0.037444 0.0459 0.3128 Uncertain 10_97969694_A->G 10 97969694 97969694 A G snp 1998.77 0/1 99 176 90 86 0.49 intronic BLNK AR NM_001258442 exon8 c.17935+31A>G 0.20647 0.4772 0.077118 0.1120 0.4605 Uncertain 10_97975168_TA->- 10 97975168 97975169 TA - indel 304.73 0/1 89 20 3 17 0.85 intronic BLNK AR NM_013314 exon10 c.23417+23_23417+24delTA 0.4738 0.4027 Uncertain 10_97983526_C->T 10 97983526 97983526 C T snp 67.77 0/1 96 17 13 4 0.24 intronic BLNK AR NM_013314 exon12 c.31853-55C>T 0.439497 0.3036 Uncertain 10_97987095_C->T 10 97987095 97987095 C T snp 267.77 0/1 99 12 4 8 0.67 intronic BLNK AR NM_013314 exon13 c.35437-70C>T 0.655152 0.756 Uncertain 10_97987144_C->G 10 97987144 97987144 C G snp 798.77 0/1 99 52 23 29 0.56 intronic BLNK AR NM_013314 exon13 c.35437-21C>G 0.379393 0.3036 0.399892 0.4350 0.3361 Uncertain 10_97990583_A->G 10 97990583 97990583 A G snp 922.77 0/1 99 97 56 41 0.42 exonic BLNK AR synonymous SNV NM_013314 exon4 c.T171C p.P57P 0.461262 0.4514 0.558204 0.6384 0.4828 Uncertain 10_98078127_C->T 10 98078127 98078127 C T snp 1385.77 1/1 99 50 0 50 1.0 exonic rs7081385 DNTT AU synonymous SNV NM_001017520 exon2 c.C222T p.I74I 0.992812 1 0.990697 0.9976 1 Uncertain 10_98078239_A->G 10 98078239 98078239 A G snp 4185.77 1/1 99 146 0 146 1.0 exonic rs6584066 DNTT AU nonsynonymous SNV NM_001017520 exon2 c.A334G p.R112G 0.992812 1 0.990697 0.9976 1 0.74 T 0.000 P -0.966 T 0.0 T 0.001 T Pathogenic 10_98080232_G->T 10 98080232 98080232 G T snp 710.77 1/1 54 18 0 18 1.0 intronic rs2273892 DNTT AU NM_004088 exon4 c.16120-142G>T 0.177117 0.5427 Uncertain 10_98082517_T->G 10 98082517 98082517 T G snp 864.77 1/1 63 26 0 26 1.0 intronic rs7097016 DNTT AU NM_004088 exon5 c.18231+32T>G 0.918861 0.9780 1 Uncertain 10_98084231_A->G 10 98084231 98084231 A G snp 1362.77 1/1 99 41 0 41 1.0 intronic rs2181320 DNTT AU NM_004088 exon6 c.19892+85A>G 0.932907 1 Uncertain 10_98088387_A->C 10 98088387 98088387 A C snp 227.84 1/1 18 7 0 7 1.0 intronic rs10882773 DNTT AU NM_004088 exon8 c.24227-94A>C 0.707468 0.9117 Uncertain 10_98095794_T->C 10 98095794 98095794 T C snp 3586.77 1/1 99 125 0 125 1.0 intronic rs10736102 DNTT AU NM_004088 exon10 c.31477+63T>C 0.809305 1 Uncertain 10_98105622_T->C 10 98105622 98105622 T C snp 793.77 1/1 60 22 0 22 1.0 UTR3 rs3814224 OPALIN AU 0.25 0.5317 Uncertain 10_98105674_CTG->- 10 98105674 98105676 CTG - indel 3493.73 1/1 99 62 0 62 1.0 UTR3 rs375178015 OPALIN AU 0.252396 0.5317 0.129153 0.2014 0.5414 Uncertain 10_98107935_A->C 10 98107935 98107935 A C snp 1183.77 1/1 84 43 0 43 1.0 intronic rs78860361 OPALIN AU NM_033207 exon2 c.2348-110A>C 0.165136 0.4435 Uncertain 10_98113030_G->C 10 98113030 98113030 G C snp 54.74 1/1 6 2 0 2 1.0 intronic rs2901989 OPALIN AU NM_001284324 exon5 c.7506-173G>C 0.250399 0.5317 Uncertain 10_98113272_A->G 10 98113272 98113272 A G snp 3540.77 1/1 99 135 0 135 1.0 UTR5 rs12572329 OPALIN AU 0.253195 0.5317 0.137757 Uncertain 10_98113333_T->C 10 98113333 98113333 T C snp 2838.77 1/1 99 102 0 102 1.0 intronic rs12571241 OPALIN AU NM_001284322 exon5 c.7588+48T>C 0.250799 0.5317 Uncertain 10_98116076_C->T 10 98116076 98116076 C T snp 309.78 1/1 24 8 0 8 1.0 intronic rs2861575 OPALIN AU NM_001284326 exon6 c.10969-590C>T 0.834864 0.9841 Uncertain 10_98118446_T->G 10 98118446 98118446 T G snp 136.03 1/1 12 4 0 4 1.0 intronic rs3814223 OPALIN AU NM_033207 exon6 c.12953-204T>G 0.751198 0.8978 Uncertain 10_98136250_G->A 10 98136250 98136250 G A snp 169.9 1/1 15 5 0 5 1.0 intronic rs3762096 TLL2 AU NM_012465 exon4 c.8604-198G>A 0.395767 0.6438 Uncertain 10_98138640_T->G 10 98138640 98138640 T G snp 641.77 1/1 48 16 0 16 1.0 intronic rs10786286 TLL2 AU NM_012465 exon5 c.10879-83T>G 0.973642 1 Uncertain 10_98144312_G->A 10 98144312 98144312 G A snp 1027.77 1/1 75 32 0 32 1.0 intronic rs7085022 TLL2 AU NM_012465 exon6 c.16499-31G>A 0.978035 1 0.975319 0.9932 1 Uncertain 10_98155710_G->A 10 98155710 98155710 G A snp 1101.77 0/1 99 100 50 50 0.5 exonic TLL2 AU synonymous SNV NM_012465 exon12 c.C1452T p.Y484Y Uncertain 10_98180613_A->G 10 98180613 98180613 A G snp 307.77 0/1 99 15 6 9 0.6 intronic rs3789951 TLL2 AU NM_012465 exon15 c.52868-99A>G 0.287141 0.252 Uncertain 10_98180644_C->T 10 98180644 98180644 C T snp 567.77 0/1 99 35 16 19 0.54 intronic rs3789952 TLL2 AU NM_012465 exon15 c.52868-68C>T 0.10623 0.1687 Uncertain 10_98180958_T->C 10 98180958 98180958 T C snp 309.77 0/1 99 28 18 10 0.36 intronic rs3789954 TLL2 AU NM_012465 exon15 c.52974+140T>C 0.284145 0.252 Uncertain 10_98240035_A->T 10 98240035 98240035 A T snp 553.77 1/1 42 16 0 16 1.0 intronic rs2281801 TLL2 AU NM_012465 exon20 c.112261-70A>T 0.846645 0.8353 Uncertain 10_98240382_G->A 10 98240382 98240382 G A snp 766.77 1/1 57 21 0 21 1.0 intronic rs243 TLL2 AU NM_012465 exon20 c.112372+166G>A 0.532748 0.7262 Uncertain 10_98287094_T->A 10 98287094 98287094 T A snp 1483.77 1/1 99 48 0 48 1.0 intronic rs10786298 TM9SF3 AU NM_020123 exon2 c.5027+48T>A 0.993011 1 0.991662 0.9980 1 Uncertain 10_98287261_G->C 10 98287261 98287261 G C snp 2539.77 1/1 99 95 0 95 1.0 intronic rs3789957 TM9SF3 AU NM_020123 exon3 c.5234+8G>C 0.601038 0.8304 0.572780 0.6584 0.8336 Uncertain 10_98312891_C->T 10 98312891 98312891 C T snp 1313.77 1/1 99 43 0 43 1.0 intronic rs10736113 TM9SF3 AU NM_020123 exon10 c.30797+75C>T 0.91234 0.9851 Uncertain 10_98319236_G->T 10 98319236 98319236 G T snp 56.74 1/1 6 2 0 2 1.0 intronic rs10128106 TM9SF3 AU NM_020123 exon11 c.37396-179G>T 0.600839 0.8304 Uncertain 10_98319367_A->T 10 98319367 98319367 A T snp 1234.77 1/1 87 47 0 47 1.0 intronic rs3818389 TM9SF3 AU NM_020123 exon11 c.37396-48A>T 0.600839 0.8304 0.569945 0.6564 0.8408 Uncertain 10_98319503_A->T 10 98319503 98319503 A T snp 697.77 1/1 51 26 0 26 1.0 intronic rs3818390 TM9SF3 AU NM_020123 exon11 c.37474+10A>T 0.638578 0.8304 0.540228 0.6715 0.8398 Uncertain 10_98321928_A->T 10 98321928 98321928 A T snp 788.77 1/1 57 30 0 30 1.0 intronic rs7094142 TM9SF3 AU NM_020123 exon12 c.39876+33A>T 0.991613 1 0.990594 0.9974 1 Uncertain 10_98346411_A->C 10 98346411 98346411 A C snp 220.84 1/1 18 6 0 6 1.0 intronic rs11188836 TM9SF3 AU NM_020123 exon15 c.64471-79A>C 0.993011 1 Uncertain 10_98379928_T->C 10 98379928 98379928 T C snp 133.03 1/1 12 4 0 4 1.0 intronic rs3748235 PIK3AP1 AU NM_152309 exon6 c.24775-180T>C 0.605032 0.8294 Uncertain 10_98380277_C->T 10 98380277 98380277 C T snp 936.77 1/1 72 28 1 27 0.96 exonic rs3748234 PIK3AP1 AU synonymous SNV NM_152309 exon12 c.G1773A p.S591S 0.573283 0.8234 0.529679 0.6205 0.8276 Uncertain 10_98380363_A->G 10 98380363 98380363 A G snp 95.28 1/1 9 4 0 4 1.0 intronic rs7910630 PIK3AP1 AU NM_152309 exon6 c.24981+49A>G 0.923922 1 0.912525 0.9780 0.9997 Uncertain 10_98383329_G->T 10 98383329 98383329 G T snp 1455.77 1/1 99 51 0 51 1.0 intronic rs4917745 PIK3AP1 AU NM_152309 exon7 c.27961+35G>T 0.891773 0.999 0.879978 0.9254 0.9995 Uncertain 10_98386433_C->A 10 98386433 98386433 C A snp 672.77 1/1 51 18 0 18 1.0 intronic rs1469847 PIK3AP1 AU NM_152309 exon8 c.31131-31C>A 0.88139 0.999 0.867061 0.9237 0.9998 Uncertain 10_98386558_G->A 10 98386558 98386558 G A snp 5356.77 1/1 99 196 0 196 1.0 exonic rs4344416 PIK3AP1 AU synonymous SNV NM_152309 exon10 c.C1576T p.L526L 0.891773 0.999 0.879748 0.9252 0.9997 Uncertain 10_98392872_A->C 10 98392872 98392872 A C snp 56.74 1/1 6 2 0 2 1.0 intronic rs6584092 PIK3AP1 AU NM_152309 exon9 c.32917+4622A>C 0.944289 1 Uncertain 10_98408714_A->G 10 98408714 98408714 A G snp 1627.77 1/1 99 52 0 52 1.0 intronic rs912483 PIK3AP1 AU NM_152309 exon11 c.53279+102A>G 0.978035 1 Uncertain 10_98410901_A->G 10 98410901 98410901 A G snp 347.77 0/1 99 35 21 14 0.4 intronic rs3748232 PIK3AP1 AU NM_152309 exon12 c.55671-103A>G 0.311901 0.4554 Uncertain 10_98416533_C->T 10 98416533 98416533 C T snp 239.77 0/1 99 14 4 10 0.71 intronic rs3748231 PIK3AP1 AU NM_152309 exon15 c.61221-21C>T 0.28115 0.3948 0.265800 0.2941 0.4191 Uncertain 10_98469507_C->A 10 98469507 98469507 C A snp 2441.77 0/1 99 201 101 100 0.5 exonic rs3748229 PIK3AP1 AU nonsynonymous SNV NM_152309 exon2 c.G247T p.A83S 0.422524 0.3095 0.379210 0.3530 0.3196 0.83 T 0.0 P -0.940 T 0.001 T 0.003 T Pathogenic 10_98761222_T->A 10 98761222 98761222 T A snp 282.77 0/1 99 24 13 11 0.46 intronic rs2002616 SLIT1 AU NM_003061 exon1 c.239+115T>A 0.115815 0.246 Uncertain 10_98797351_A->G 10 98797351 98797351 A G snp 1787.77 1/1 99 61 0 61 1.0 intronic rs2805586 SLIT1 AU NM_003061 exon16 c.36586-103A>G 0.983227 0.999 Uncertain 10_98808866_C->G 10 98808866 98808866 C G snp 5993.77 1/1 99 233 0 233 1.0 exonic rs2805588 SLIT1 AU synonymous SNV NM_003061 exon14 c.G1311C p.A437A 0.958067 1 0.959096 0.9880 1 Uncertain 10_98816299_C->T 10 98816299 98816299 C T snp 349.77 0/1 99 33 19 14 0.42 intronic rs2306951 SLIT1 AU NM_003061 exon25 c.55353+78C>T 0.104832 0.0536 Uncertain 10_98816373_C->A 10 98816373 98816373 C A snp 38.77 0/1 31 3 1 2 0.67 intronic rs2255174 SLIT1 AU NM_003061 exon25 c.55353+152C>A 0.464457 0.755 Uncertain 10_98816786_T->C 10 98816786 98816786 T C snp 425.77 0/1 99 32 12 20 0.63 intronic rs2817675 SLIT1 AU NM_003061 exon26 c.56098-180T>C 0.63099 0.8353 Uncertain 10_98819317_A->G 10 98819317 98819317 A G snp 995.77 0/1 99 90 50 40 0.44 intronic rs2817676 SLIT1 AU NM_003061 exon27 c.58420+29A>G 0.605032 0.8373 0.564057 0.6800 0.8218 0.0 P -0.998 T 0.0 T 0.0 T Uncertain 10_98820314_G->A 10 98820314 98820314 G A snp 206.77 0/1 99 15 7 8 0.53 intronic rs2306953 SLIT1 AU NM_003061 exon29 c.59528-82G>A 0.067492 0.0694 Uncertain 10_98825940_G->A 10 98825940 98825940 G A snp 2502.77 1/1 99 92 0 92 1.0 intronic rs1106375 SLIT1 AU NM_003061 exon33 c.64975+97G>A 0.623003 0.8562 Uncertain 10_98923361_T->C 10 98923361 98923361 T C snp 1448.77 1/1 99 40 0 40 1.0 ncRNA_intronic rs2636772 ARHGAP19-SLIT1 AU 0.992212 1 Uncertain 10_98924657_G->A 10 98924657 98924657 G A snp 2073.77 0/1 99 239 142 97 0.41 ncRNA_intronic rs74828767 ARHGAP19-SLIT1 AU 0.00838658 0.0417 0.000154 0.0032 0.0440 ID=COSM147008;OCCURENCE=1(stomach) Uncertain 10_98979112_T->- 10 98979112 98979112 T - indel 270.75 1/1 24 10 0 10 1.0 ncRNA_intronic rs10714841 ARHGAP19-SLIT1 AU 0.820687 0.8056 Uncertain 10_98988759_A->C 10 98988759 98988759 A C snp 969.77 1/1 72 26 0 26 1.0 ncRNA_intronic rs1468069 ARHGAP19-SLIT1 AU 0.550919 0.7073 Uncertain 10_98989454_A->G 10 98989454 98989454 A G snp 2719.77 1/1 99 87 0 87 1.0 ncRNA_intronic rs2297987 ARHGAP19-SLIT1 AU 0.582468 0.7063 Uncertain 10_99003613_A->C 10 99003613 99003613 A C snp 298.78 1/1 24 9 0 9 1.0 ncRNA_intronic rs793528 ARHGAP19-SLIT1 AU 0.9377 1 Uncertain 10_99019144_C->T 10 99019144 99019144 C T snp 5113.77 1/1 99 190 0 190 1.0 ncRNA_intronic rs3740522 ARHGAP19-SLIT1 AU 0.503794 0.7113 0.468169 0.5708 0.7336 Uncertain 10_99019177_A->G 10 99019177 99019177 A G snp 5557.77 1/1 99 200 0 200 1.0 exonic rs2253301 ARHGAP19 AU synonymous SNV NM_001204300 exon5 c.T822C p.H274H 0.844449 0.8095 0.899508 0.9203 0.8511 Uncertain 10_99025611_T->A 10 99025611 99025611 T A snp 1483.77 1/1 99 49 0 49 1.0 splicing rs10882884 ARHGAP19 AU NM_032900 exon11 c.39738-5T>A 0.503794 0.7113 0.468322 0.5713 0.7344 Pathogenic 10_99116903_C->T 10 99116903 99116903 C T snp 1712.77 0/1 99 166 90 76 0.46 exonic rs1048445 RRP12 AU nonsynonymous SNV NM_001284337 exon31 c.G3542A p.R1181Q 0.283347 0.3075 0.236276 0.2737 0.2792 0.52 T 0.196 P -0.950 T 0.013 T 0.003 T Pathogenic 10_99117097_T->A 10 99117097 99117097 T A snp 236.77 0/1 99 31 21 10 0.32 intronic rs7923385 RRP12 AU NM_015179 exon1 c.103+144T>A 0.447484 0.3452 Uncertain 10_99117120_G->A 10 99117120 99117120 G A snp 272.77 0/1 52 10 2 8 0.8 intronic rs10882905 RRP12 AU NM_015179 exon1 c.103+167G>A 0.243011 0.3681 Uncertain 10_99118382_T->C 10 99118382 99118382 T C snp 1808.77 0/1 99 138 69 69 0.5 splicing rs2297988 RRP12 AU NM_015179 exon2 c.1526+6T>C 0.425519 0.3115 0.397355 0.3439 0.2862 Pathogenic 10_99123457_A->G 10 99123457 99123457 A G snp 537.77 0/1 99 30 13 17 0.57 intronic rs11189165 RRP12 AU NM_015179 exon5 c.6760-153A>G 0.414936 0.3095 Uncertain 10_99125722_A->G 10 99125722 99125722 A G snp 203.77 0/1 99 20 12 8 0.4 intronic rs11189167 RRP12 AU NM_015179 exon6 c.9014-142A>G 0.271965 0.3095 Uncertain 10_99125769_T->C 10 99125769 99125769 T C snp 565.77 0/1 99 57 36 21 0.37 intronic rs11189168 RRP12 AU NM_015179 exon6 c.9014-95T>C 0.416733 0.3105 Uncertain 10_99125788_G->C 10 99125788 99125788 G C snp 868.77 0/1 99 79 47 32 0.41 intronic rs10882907 RRP12 AU NM_015179 exon6 c.9014-76G>C 0.415136 0.3105 Uncertain 10_99125949_C->T 10 99125949 99125949 C T snp 1319.77 0/1 99 120 58 62 0.52 exonic rs2275580 RRP12 AU nonsynonymous SNV NM_001284337 exon26 c.G3133A p.G1045S 0.395966 0.3968 0.466246 0.5342 0.4423 0.52 T 1.000 P -0.932 T 0.991 D 0.359 D Pathogenic 10_99126249_G->A 10 99126249 99126249 G A snp 2961.77 0/1 99 237 112 125 0.53 exonic rs2275581 RRP12 AU synonymous SNV NM_001284337 exon25 c.C3045T p.D1015D 0.272963 0.3095 0.227433 0.2608 0.2836 Uncertain 10_99130127_A->G 10 99130127 99130127 A G snp 1296.77 0/1 99 90 42 48 0.53 intronic rs3737194 RRP12 AU NM_015179 exon12 c.13361-84A>G 0.465455 0.3641 Uncertain 10_99132701_A->G 10 99132701 99132701 A G snp 61.77 0/1 90 6 3 3 0.5 intronic rs3818908 RRP12 AU NM_015179 exon17 c.15952-101A>G 0.407149 0.3115 Uncertain 10_99139600_C->G 10 99139600 99139600 C G snp 198.77 0/1 60 9 3 6 0.67 intronic rs11189174 RRP12 AU NM_015179 exon21 c.22677+73C>G 0.403355 0.3125 Uncertain 10_99139609_T->C 10 99139609 99139609 T C snp 80.77 0/1 96 6 3 3 0.5 intronic rs11189175 RRP12 AU NM_015179 exon21 c.22677+82T>C 0.403355 0.3125 Uncertain 10_99140511_A->G 10 99140511 99140511 A G snp 813.77 0/1 99 77 39 38 0.49 intronic rs7078004 RRP12 AU NM_015179 exon22 c.23705-44A>G 0.405551 0.3125 0.379056 0.3426 0.2869 Uncertain 10_99140969_T->C 10 99140969 99140969 T C snp 448.77 0/1 99 26 12 14 0.54 intronic rs7096801 RRP12 AU NM_015179 exon23 c.24292-173T>C 0.404353 0.3125 Uncertain 10_99141205_A->G 10 99141205 99141205 A G snp 2685.77 0/1 99 242 128 114 0.47 exonic rs2275089 RRP12 AU synonymous SNV NM_001284337 exon9 c.T1056C p.A352A 0.404752 0.3125 0.377826 0.3431 0.2841 Uncertain 10_99141484_C->T 10 99141484 99141484 C T snp 2333.77 0/1 99 201 99 102 0.51 exonic rs12218483 RRP12 AU synonymous SNV NM_001284337 exon8 c.G1008A p.T336T 0.26278 0.3125 0.218438 0.2599 0.2840 Uncertain 10_99141663_C->T 10 99141663 99141663 C T snp 179.77 0/1 99 18 11 7 0.39 intronic rs11189177 RRP12 AU NM_015179 exon24 c.24733+80C>T 0.404553 0.3125 Uncertain 10_99147975_T->C 10 99147975 99147975 T C snp 120.77 0/1 99 21 16 5 0.24 intronic rs869967 RRP12 AU NM_015179 exon27 c.31158-33T>C 0.405152 0.3125 0.375673 0.3397 0.2830 Uncertain 10_99148151_A->G 10 99148151 99148151 A G snp 982.77 0/1 99 113 71 42 0.37 intronic rs2275090 RRP12 AU NM_015179 exon27 c.31286+15A>G 0.404153 0.3125 0.377979 0.3398 0.2848 Uncertain 10_99153540_T->G 10 99153540 99153540 T G snp 240.77 0/1 99 22 9 13 0.59 intronic rs7898743 RRP12 AU NM_015179 exon31 c.36667+23T>G 0.502596 0.4623 0.459403 0.4215 0.4480 Uncertain 10_99155984_G->A 10 99155984 99155984 G A snp 897.77 0/1 99 77 37 40 0.52 exonic rs3814553 RRP12 AU synonymous SNV NM_001145114 exon3 c.C444T p.F148F 0.404153 0.3125 0.377979 0.3393 0.2844 Uncertain 10_99156273_C->G 10 99156273 99156273 C G snp 123.78 0/1 27 6 1 5 0.83 intronic rs11189200 RRP12 AU NM_015179 exon32 c.39208+215C>G 0.404153 0.3125 Uncertain 10_99159963_C->G 10 99159963 99159963 C G snp 315.77 0/1 99 23 12 11 0.48 intronic rs9888117 RRP12 AU NM_015179 exon33 c.43211-98C>G 0.400759 0.3125 Uncertain 10_99160046_C->T 10 99160046 99160046 C T snp 1252.77 0/1 99 138 88 50 0.36 intronic rs2297668 RRP12 AU NM_015179 exon33 c.43211-15C>T 0.400759 0.3125 0.377672 0.3380 0.2840 Uncertain 10_99160152_A->G 10 99160152 99160152 A G snp 2375.77 0/1 99 250 136 114 0.46 exonic rs1048442 RRP12 AU synonymous SNV NM_001145114 exon2 c.T279C p.G93G 0.400559 0.3125 0.377672 0.3381 0.2845 Uncertain 10_99160965_A->G 10 99160965 99160965 A G snp 6798.77 1/1 99 250 0 250 1.0 exonic rs2275091 RRP12 AU synonymous SNV NM_001145114 exon1 c.T24C p.P8P 0.926917 0.875 0.949716 0.9601 0.8932 Uncertain 10_99185403_G->A 10 99185403 99185403 G A snp 697.77 0/1 99 68 37 31 0.46 upstream rs143637375 PGAM1 AU 0.00499201 0.0248 0.0017 0.0522 Uncertain 10_99185822_G->A 10 99185822 99185822 G A snp 278.77 0/1 99 34 20 14 0.41 upstream rs564037535 PGAM1 AU 0.000399361 0.002 0.0004 0.0242 Uncertain 10_99198217_C->T 10 99198217 99198217 C T snp 487.77 1/1 39 13 0 13 1.0 intronic rs11189221 EXOSC1 AU NM_016046 exon4 c.2225-209C>T 0.370407 0.494 Uncertain 10_99198508_T->- 10 99198508 99198508 T - indel 144.73 0/1 41 51 7 44 0.86 intronic rs11316935 EXOSC1 AU NM_016046 exon4 c.2259+48delT 0.460064 0.4712 0.2216 0.2099 Uncertain 10_99215953_G->C 10 99215953 99215953 G C snp 1845.77 1/1 99 53 0 53 1.0 intronic rs3818909 ZDHHC16 AU NM_198046 exon11 c.4369+152G>C 0.529752 0.6071 Uncertain 10_99216432_C->T 10 99216432 99216432 C T snp 2369.77 1/1 99 77 0 77 1.0 intronic rs10882939 ZDHHC16 AU NM_198046 exon12 c.5101-101C>T 0.335064 0.4901 Uncertain 10_99219405_G->- 10 99219405 99219405 G - indel 6098.73 1/1 99 137 0 137 1.0 intronic rs29001331 MMS19 AU NM_022362 exon5 c.967-10delG 0.335264 0.4881 0.257987 0.3241 0.4874 Uncertain 10_99219885_G->A 10 99219885 99219885 G A snp 4399.77 1/1 99 158 0 158 1.0 exonic rs2152092 MMS19 AU synonymous SNV NM_001289403 exon25 c.C2445T p.A815A 0.52516 0.5863 0.502614 0.5370 0.5785 1.000 P -0.920 T Likely benign 10_99229394_G->A 10 99229394 99229394 G A snp 2859.77 1/1 99 108 0 108 1.0 intronic rs2275583 MMS19 AU NM_022362 exon21 c.10954-8G>A 0.324081 0.4861 0.245656 0.2975 0.4662 Uncertain 10_99240048_C->T 10 99240048 99240048 C T snp 374.78 1/1 27 18 0 18 1.0 intronic rs7897727 MMS19 AU NM_022362 exon29 c.22250-650C>T 0.507388 0.5744 0.5807 0.6180 0.43 T 0.000 P -0.939 T Uncertain 10_99240758_G->C 10 99240758 99240758 G C snp 1742.77 1/1 99 60 0 60 1.0 exonic rs2275586 MMS19 AU nonsynonymous SNV NM_001289403 exon3 c.C203G p.A68G 0.9375 0.9613 0.946786 0.9649 0.9771 0.86 T 1.0 P -0.955 T 0.0 T 0.001 T Pathogenic 10_99258223_T->G 10 99258223 99258223 T G snp 4432.77 1/1 99 167 0 167 1.0 UTR5 rs3750558 MMS19 AU 0.523762 0.62 0.387594 0.5652 0.6038 Uncertain 10_99332488_A->C 10 99332488 99332488 A C snp 947.77 1/1 69 32 0 32 1.0 exonic rs12221474 ANKRD2 AU synonymous SNV NM_001129981 exon1 c.A24C p.A8A 0.353435 0.5288 0.248346 0.3495 0.5048 Uncertain 10_99337473_T->C 10 99337473 99337473 T C snp 657.77 1/1 48 22 0 22 1.0 intronic rs10786357 ANKRD2 AU NM_020349 exon2 c.5092-83T>C 0.953674 0.9911 Uncertain 10_99340949_A->C 10 99340949 99340949 A C snp 1013.77 0/1 99 86 47 39 0.45 intronic ANKRD2 AU NM_020349 exon6 c.8608-123A>C Uncertain 10_99342085_C->T 10 99342085 99342085 C T snp 1827.77 0/1 99 190 110 80 0.42 exonic rs145093754 ANKRD2 AU nonsynonymous SNV NM_001291218 exon7 c.C1007T p.P336L 0.00199681 0.0069 0.000928 0.0023 0.0064 0.01 T 1 D -0.065 T 1.0 D 0.991 D Pathogenic 10_99342563_T->C 10 99342563 99342563 T C snp 1412.77 1/1 99 41 0 41 1.0 intronic rs3818910 ANKRD2 AU NM_020349 exon8 c.9995+104T>C 0.265775 0.3929 Uncertain 10_99376092_T->C 10 99376092 99376092 T C snp 480.77 0/1 99 51 28 23 0.45 exonic rs3814555 MORN4 AU synonymous SNV NM_001098831 exon5 c.A369G p.R123R 0.298922 0.2817 0.292711 0.2481 0.3253 Uncertain 10_99376152_A->G 10 99376152 99376152 A G snp 467.77 0/1 99 49 28 21 0.43 exonic rs3814556 MORN4 AU synonymous SNV NM_001098831 exon5 c.T309C p.P103P 0.334465 0.2837 0.328618 0.2620 0.3249 1.000 P Uncertain 10_99376675_A->G 10 99376675 99376675 A G snp 81.77 0/1 28 4 1 3 0.75 intronic rs3829907 MORN4 AU NM_001098831 exon2 c.525+131A>G 0.15615 0.1776 Uncertain 10_99376843_A->C 10 99376843 99376843 A C snp 2287.77 1/1 99 74 0 74 1.0 intronic rs4919121 MORN4 AU NM_001098831 exon3 c.945-121A>C 0.991613 1 Uncertain 10_99379206_A->C 10 99379206 99379206 A C snp 445.77 0/1 99 31 14 17 0.55 intronic rs10159784 MORN4 AU NM_001098831 exon4 c.3324-137A>C 0.100839 0.1766 Uncertain 10_99439556_A->C 10 99439556 99439556 A C snp 2144.77 0/1 99 202 104 98 0.49 exonic rs11556392 AVPI1 AU nonsynonymous SNV NM_021732 exon2 c.T107G p.L36R 0.0477236 0.0714 0.057204 0.0678 0.0554 0.01 T 1.000 D -1.143 T 1.0 D 0.999 D Pathogenic 10_99473666_C->G 10 99473666 99473666 C G snp 1488.77 1/1 99 47 0 47 1.0 exonic rs11189342 MARVELD1 AU synonymous SNV NM_031484 exon1 c.C33G p.P11P 0.463458 0.6766 0.4762 1 Uncertain 10_99502823_G->T 10 99502823 99502823 G T snp 2153.77 0/1 99 235 136 99 0.42 intronic rs80117547 ZFYVE27 AD NM_144588 exon3 c.4616-27G>T 0.0453275 0.0417 0.042365 0.0362 0.0383 Uncertain 10_99502897_G->A 10 99502897 99502897 G A snp 1467.77 0/1 99 163 92 71 0.44 exonic rs17108378 ZFYVE27 AD nonsynonymous SNV NM_001002261 exon2 c.G244A p.V82I 0.0367412 0.0417 0.031908 0.0334 0.0383 1 T 1.000 D -0.953 T 0.0 T 0.001 T CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000118903.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 10_99504630_G->T 10 99504630 99504630 G T snp 703.77 0/1 99 48 21 27 0.56 exonic rs10882993 ZFYVE27 AD nonsynonymous SNV NM_001002261 exon3 c.G413T p.G138V 0.696486 0.5427 0.763842 0.7324 0.5470 1 T 0.252 P -0.949 T 0.0 T 0.0 T CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000118905.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 10_99504725_A->G 10 99504725 99504725 A G snp 281.77 0/1 91 13 3 10 0.77 intronic rs10882994 ZFYVE27 AD NM_144588 exon4 c.6438+53A>G 0.640775 0.5625 Uncertain 10_99512456_G->T 10 99512456 99512456 G T snp 740.77 0/1 99 58 24 34 0.59 intronic rs115674034 ZFYVE27 AD NM_144588 exon9 c.14379-157G>T 0.0289537 0.0407 Uncertain 10_99514645_A->G 10 99514645 99514645 A G snp 462.77 0/1 99 42 25 17 0.4 intronic rs7922907 ZFYVE27 AD NM_144588 exon10 c.14705+1706A>G 0.591653 0.5308 Uncertain 10_99517229_T->A 10 99517229 99517229 T A snp 280.77 0/1 99 24 15 9 0.38 intronic rs3750613 ZFYVE27 AD NM_144588 exon11 c.18834+161T>A 0.0377396 0.0407 Uncertain 10_99517355_A->G 10 99517355 99517355 A G snp 1366.77 0/1 99 157 90 67 0.43 intronic rs3750612 ZFYVE27 AD NM_144588 exon12 c.19164-43A>G 0.625399 0.5347 0.713286 0.7102 0.4993 Uncertain 10_99519097_A->G 10 99519097 99519097 A G snp 970.77 0/1 99 84 41 43 0.51 UTR3 rs1981237 ZFYVE27 AD 0.679712 0.5258 0.759034 0.7305 0.4951 Uncertain 10_99531571_C->G 10 99531571 99531571 C G snp 415.77 0/1 99 19 6 13 0.68 exonic rs11815012 SFRP5 AU nonsynonymous SNV NM_003015 exon1 c.G20C p.G7A 0.78155 0.5288 0.8387 1 1 T 0.0 P -0.961 T Pathogenic 10_99531593_C->T 10 99531593 99531593 C T snp 114.77 0/1 99 7 3 4 0.57 UTR5 rs374981598 SFRP5 AU 0.0299521 0.0397 0.0294 . Uncertain 10_99638198_T->C 10 99638198 99638198 T C snp 37.77 0/1 66 6 4 2 0.33 intronic rs3793696 CRTAC1 AU NM_018058 exon2 c.14701-1807T>C 0.346645 0.2837 Uncertain 10_99638208_T->- 10 99638208 99638208 T - indel 95.73 0/1 92 9 4 5 0.56 intronic rs3838741 CRTAC1 AU NM_018058 exon2 c.14701-1797delT 0.318291 0.2837 Uncertain 10_99640255_G->A 10 99640255 99640255 G A snp 1380.77 0/1 99 83 39 44 0.53 intronic rs10883009 CRTAC1 AU NM_001206528 exon2 c.710+106G>A 0.234824 0.2817 Uncertain 10_99642393_T->G 10 99642393 99642393 T G snp 162.78 0/1 24 6 1 5 0.83 intronic rs2297937 CRTAC1 AU NM_001206528 exon3 c.3103-149T>G 0.299521 0.2817 Uncertain 10_99642432_TCC->- 10 99642432 99642434 TCC - indel 443.73 0/1 99 15 6 9 0.6 intronic rs3831315 CRTAC1 AU NM_001206528 exon3 c.3103-110_3103-108delTCC 0.0547125 0.0833 Uncertain 10_99642731_C->T 10 99642731 99642731 C T snp 299.77 0/1 99 26 14 12 0.46 intronic rs588061 CRTAC1 AU NM_001206528 exon3 c.3146+146C>T 0.43151 0.5843 Uncertain 10_99655606_G->C 10 99655606 99655606 G C snp 1168.77 0/1 99 71 33 38 0.54 intronic rs2297938 CRTAC1 AU NM_001206528 exon6 c.16202-35G>C 0.166933 0.12 0.187068 0.1732 0.1058 Uncertain 10_99677094_C->A 10 99677094 99677094 C A snp 72.77 0/1 99 7 4 3 0.43 intronic rs746553 CRTAC1 AU NM_001206528 exon11 c.37817-162C>A 0.781749 0.9226 Uncertain 10_99677552_C->A 10 99677552 99677552 C A snp 177.77 0/1 99 10 4 6 0.6 intronic CRTAC1 AU NM_001206528 exon11 c.37974+139C>A Uncertain 10_99682981_T->C 10 99682981 99682981 T C snp 1206.77 0/1 99 84 41 43 0.51 intronic rs894375 CRTAC1 AU NM_001206528 exon12 c.43581-39T>C 0.798522 0.9226 0.779299 0.8032 0.9268 Uncertain 10_99923144_TTAC->- 10 99923144 99923147 TTAC - indel 1201.73 0/1 99 57 36 21 0.37 UTR5 R3HCC1L AU Uncertain 10_99969568_A->G 10 99969568 99969568 A G snp 2435.77 0/1 99 170 71 99 0.58 exonic rs11189513 R3HCC1L AU nonsynonymous SNV NM_001256620 exon4 c.A1697G p.H566R 0.288538 0.3542 0.242196 0.3222 0.3134 0.000 P -0.901 T 0.01 T 0.01 T Pathogenic 10_99991408_A->G 10 99991408 99991408 A G snp 1571.77 1/1 99 59 0 59 1.0 exonic rs1952061 R3HCC1L AU nonsynonymous SNV NM_001256621 exon4 c.A143G p.H48R 0.991813 1 0.990389 0.9973 1 0.000 P -0.951 T 0.0 T 0.0 T Pathogenic 10_100003785_T->C 10 100003785 100003785 T C snp 684.77 0/1 99 63 34 29 0.46 intronic rs1359508 R3HCC1L AU NM_001256621 exon8 c.80696-62T>C 0.322684 0.4722 0.330924 Uncertain 10_100011077_T->A 10 100011077 100011077 T A snp 702.77 0/1 99 51 24 27 0.53 intronic rs11189523 LOXL4 AU NM_032211 exon2 c.2256+144T>A 0.429113 0.498 Uncertain 10_100011970_G->A 10 100011970 100011970 G A snp 393.77 0/1 99 34 19 15 0.44 intronic rs3750598 LOXL4 AU NM_032211 exon4 c.3432-139G>A 0.321486 0.4722 Uncertain 10_100012011_C->T 10 100012011 100012011 C T snp 1732.77 1/1 99 62 0 62 1.0 intronic rs10748722 LOXL4 AU NM_032211 exon4 c.3432-98C>T 0.954473 1 Uncertain 10_100013244_A->C 10 100013244 100013244 A C snp 795.77 0/1 99 56 25 31 0.55 intronic rs3750599 LOXL4 AU NM_032211 exon5 c.4632-65A>C 0.322484 0.4732 Uncertain 10_100016339_C->T 10 100016339 100016339 C T snp 106.77 0/1 99 7 3 4 0.57 intronic rs1983865 LOXL4 AU NM_032211 exon7 c.7859-197C>T 0.507588 0.752 Uncertain 10_100017453_T->G 10 100017453 100017453 T G snp 3177.77 0/1 99 250 130 120 0.48 exonic rs1983864 LOXL4 AU nonsynonymous SNV NM_032211 exon8 c.A1214C p.D405A 0.36222 0.6081 0.251422 0.3737 0.5682 0 D 1.000 P -0.872 T 1.0 D 1.0 D Pathogenic 10_100018844_G->A 10 100018844 100018844 G A snp 757.77 0/1 99 66 32 34 0.52 exonic rs7077073 LOXL4 AU synonymous SNV NM_032211 exon6 c.C843T p.H281H 0.501597 0.752 0.367846 0.5673 0.7470 Uncertain 10_100020572_T->G 10 100020572 100020572 T G snp 77.77 0/1 99 7 4 3 0.43 intronic rs11189526 LOXL4 AU NM_032211 exon12 c.12001-106T>G 0.249401 0.2173 Uncertain 10_100020880_C->T 10 100020880 100020880 C T snp 1249.77 0/1 99 105 50 55 0.52 exonic rs33995374 LOXL4 AU nonsynonymous SNV NM_032211 exon4 c.G461A p.R154Q 0.0898562 0.1062 0.113479 0.1181 0.1163 0.57 T 0.000 P -1.048 T 0.007 T 0.001 T Pathogenic 10_100021983_G->A 10 100021983 100021983 G A snp 1782.77 0/1 99 169 92 77 0.46 intronic rs746257 LOXL4 AU NM_032211 exon13 c.13293+13G>A 0.0994409 0.1052 0.124635 0.1199 0.1190 Uncertain 10_100022446_A->G 10 100022446 100022446 A G snp 679.77 1/1 51 21 0 21 1.0 intronic rs10736125 LOXL4 AU NM_032211 exon14 c.13822-53A>G 0.96266 1 Uncertain 10_100022917_-->TG 10 100022917 100022917 - TG indel 566.73 1/1 42 22 0 22 1.0 intronic rs112780536 LOXL4 AU NM_032211 exon14 c.14131+109insTG 0.890176 0.9077 Uncertain 10_100144782_C->T 10 100144782 100144782 C T snp 1294.77 0/1 99 113 50 63 0.56 exonic rs2296441 PYROXD2 AU nonsynonymous SNV NM_032709 exon15 c.G1597A p.A533T 0.404553 0.4425 0.326926 0.3710 0.4200 0.55 T 1.000 P -0.937 T 0.117 T 0.01 T Pathogenic 10_100146895_T->C 10 100146895 100146895 T C snp 674.77 1/1 51 24 0 24 1.0 intronic rs2296438 PYROXD2 AU NM_032709 exon3 c.3403-62T>C 0.521166 0.5655 Uncertain 10_100147060_A->G 10 100147060 100147060 A G snp 2954.77 1/1 99 121 0 121 1.0 exonic rs4345897 PYROXD2 AU synonymous SNV NM_032709 exon14 c.T1452C p.F484F 0.521166 0.5615 0.432031 0.4406 0.5400 Uncertain 10_100147097_G->A 10 100147097 100147097 G A snp 1005.77 0/1 99 106 60 46 0.43 intronic rs4400721 PYROXD2 AU NM_032709 exon3 c.3510+33G>A 0.404353 0.4345 0.332231 0.3674 0.4159 Uncertain 10_100148004_T->C 10 100148004 100148004 T C snp 737.77 1/1 54 25 0 25 1.0 intronic rs2182169 PYROXD2 AU NM_032709 exon4 c.4556-106T>C 0.511182 0.5615 Uncertain 10_100148058_T->C 10 100148058 100148058 T C snp 2248.77 1/1 99 77 0 77 1.0 intronic rs4539242 PYROXD2 AU NM_032709 exon4 c.4556-52T>C 0.599441 0.5833 Uncertain 10_100148176_A->G 10 100148176 100148176 A G snp 5236.77 1/1 99 202 0 202 1.0 exonic rs2147896 PYROXD2 AU nonsynonymous SNV NM_032709 exon13 c.T1382C p.M461T 0.599641 0.5833 0.496617 0.4745 0.5596 1 T 0.001 P -0.968 T 0.0 T 0.0 T Pathogenic 10_100148308_T->G 10 100148308 100148308 T G snp 1455.77 1/1 99 48 0 48 1.0 intronic rs2147895 PYROXD2 AU NM_032709 exon4 c.4711+43T>G 0.514577 0.5744 0.417668 0.4515 0.5576 Uncertain 10_100148353_C->G 10 100148353 100148353 C G snp 579.77 1/1 45 17 0 17 1.0 intronic rs2182168 PYROXD2 AU NM_032709 exon4 c.4711+88C>G 0.504792 0.5625 Uncertain 10_100150938_G->A 10 100150938 100150938 G A snp 483.77 0/1 99 27 10 17 0.63 intronic rs17109620 PYROXD2 AU NM_032709 exon6 c.7285+99G>A 0.0640974 0.128 Uncertain 10_100152055_C->G 10 100152055 100152055 C G snp 50.74 1/1 6 2 0 2 1.0 intronic rs6584191 PYROXD2 AU NM_032709 exon7 c.8634-133C>G 0.599042 0.5843 Uncertain 10_100152177_C->T 10 100152177 100152177 C T snp 1011.77 0/1 99 59 23 36 0.61 intronic rs41290480 PYROXD2 AU NM_032709 exon7 c.8634-11C>T 0.0642971 0.128 0.050592 0.0598 0.1245 Uncertain 10_100152373_T->G 10 100152373 100152373 T G snp 3261.77 1/1 99 108 0 108 1.0 intronic rs6584192 PYROXD2 AU NM_032709 exon7 c.8769+50T>G 0.510383 0.5615 0.421344 0.4376 0.5392 Uncertain 10_100152560_C->A 10 100152560 100152560 C A snp 440.77 0/1 99 33 17 16 0.48 intronic rs60153449 PYROXD2 AU NM_032709 exon8 c.9144-138C>A 0.0642971 0.128 Uncertain 10_100155296_T->G 10 100155296 100155296 T G snp 918.77 1/1 66 31 0 31 1.0 intronic rs11189591 PYROXD2 AU NM_032709 exon10 c.11655+87T>G 0.488419 0.5645 Uncertain 10_100157330_C->- 10 100157330 100157330 C - indel 1759.73 1/1 99 58 0 58 1.0 intronic rs61159293 PYROXD2 AU NM_032709 exon11 c.13701+75delC 0.392372 0.4435 Uncertain 10_100157346_C->T 10 100157346 100157346 C T snp 418.77 0/1 99 44 28 16 0.36 intronic rs557460328 PYROXD2 AU NM_032709 exon11 c.13701+91C>T 0.00339457 Uncertain 10_100157368_C->T 10 100157368 100157368 C T snp 968.77 1/1 72 29 0 29 1.0 intronic rs10786418 PYROXD2 AU NM_032709 exon11 c.13701+113C>T 0.391973 0.4415 Uncertain 10_100167236_G->C 10 100167236 100167236 G C snp 505.77 0/1 99 30 15 15 0.5 intronic rs10883090 PYROXD2 AU NM_032709 exon13 c.23784-102G>C 0.417133 0.4395 Uncertain 10_100167239_C->T 10 100167239 100167239 C T snp 541.77 0/1 99 31 15 16 0.52 intronic rs10883091 PYROXD2 AU NM_032709 exon13 c.23784-99C>T 0.438099 0.4395 Uncertain 10_100167276_A->C 10 100167276 100167276 A C snp 1452.77 0/1 99 98 43 55 0.56 intronic rs10883092 PYROXD2 AU NM_032709 exon13 c.23784-62A>C 0.439696 0.4405 0.351730 Uncertain 10_100167322_C->T 10 100167322 100167322 C T snp 2887.77 0/1 99 232 112 120 0.52 intronic rs11189595 PYROXD2 AU NM_032709 exon13 c.23784-16C>T 0.252396 0.3353 0.204367 0.2711 0.3389 Uncertain 10_100167396_G->A 10 100167396 100167396 G A snp 3592.77 0/1 99 250 124 126 0.5 exonic rs12763326 PYROXD2 AU synonymous SNV NM_032709 exon4 c.C258T p.R86R 0.417732 0.4395 0.336229 0.3377 0.4357 Uncertain 10_100167436_T->C 10 100167436 100167436 T C snp 2993.77 0/1 99 247 133 114 0.46 intronic rs45523432 PYROXD2 AU NM_032709 exon13 c.23858+24T>C 0.418131 0.4395 0.337229 0.2840 0.3594 Uncertain 10_100167451_C->G 10 100167451 100167451 C G snp 2753.77 0/1 99 236 130 106 0.45 intronic rs12763044 PYROXD2 AU NM_032709 exon13 c.23858+39C>G 0.417332 0.4395 0.335691 0.2848 0.3619 Uncertain 10_100167466_G->A 10 100167466 100167466 G A snp 2484.77 0/1 99 222 127 95 0.43 intronic rs12763379 PYROXD2 AU NM_032709 exon13 c.23858+54G>A Uncertain 10_100167495_G->A 10 100167495 100167495 G A snp 1996.77 0/1 99 202 122 80 0.4 intronic rs12768227 PYROXD2 AU NM_032709 exon13 c.23858+83G>A Uncertain 10_100167501_A->C 10 100167501 100167501 A C snp 1942.77 0/1 99 196 114 82 0.42 intronic rs12767740 PYROXD2 AU NM_032709 exon13 c.23858+89A>C Uncertain 10_100167518_G->A 10 100167518 100167518 G A snp 39.77 0/1 68 167 153 14 0.08 intronic rs7091564 PYROXD2 AU NM_032709 exon13 c.23858+106G>A 0.233227 0.249 Uncertain 10_100167524_G->A 10 100167524 100167524 G A snp 70.77 0/1 99 148 134 14 0.09 intronic rs7091571 PYROXD2 AU NM_032709 exon13 c.23858+112G>A Uncertain 10_100167530_C->A 10 100167530 100167530 C A snp 279.77 0/1 99 134 113 21 0.16 intronic rs7091332 PYROXD2 AU NM_032709 exon13 c.23858+118C>A Uncertain 10_100167547_G->A 10 100167547 100167547 G A snp 97.77 0/1 99 95 83 12 0.13 intronic rs12768257 PYROXD2 AU NM_032709 exon14 c.24106-113G>A Uncertain 10_100167553_G->A 10 100167553 100167553 G A snp 870.77 0/1 99 85 53 32 0.38 intronic rs7091677 PYROXD2 AU NM_032709 exon14 c.24106-107G>A Uncertain 10_100167605_G->A 10 100167605 100167605 G A snp 1680.77 0/1 99 112 48 64 0.57 intronic rs7091709 PYROXD2 AU NM_032709 exon14 c.24106-55G>A 0.465855 0.4395 Uncertain 10_100167860_G->C 10 100167860 100167860 G C snp 1309.77 1/1 93 47 0 47 1.0 intronic rs942810 PYROXD2 AU NM_032709 exon14 c.24200+106G>C 0.571086 0.5704 Uncertain 10_100167951_T->C 10 100167951 100167951 T C snp 155.77 0/1 99 10 4 6 0.6 intronic rs17109675 PYROXD2 AU NM_032709 exon14 c.24200+197T>C 0.102436 0.131 Uncertain 10_100170507_A->T 10 100170507 100170507 A T snp 2284.77 1/1 99 71 0 71 1.0 intronic rs7896828 PYROXD2 AU NM_032709 exon15 c.27141-188A>T 0.574081 0.5714 Uncertain 10_100170762_C->T 10 100170762 100170762 C T snp 997.77 0/1 99 81 42 39 0.48 intronic rs3814140 PYROXD2 AU NM_032709 exon15 c.27161+47C>T 0.438698 0.4395 0.339543 0.3906 0.4138 Uncertain 10_100174721_T->C 10 100174721 100174721 T C snp 1700.77 0/1 99 203 115 88 0.43 intronic rs2147900 PYROXD2 AU NM_032709 exon16 c.31211-44T>C 0.439896 0.4395 0.352530 0.3438 0.4396 Uncertain 10_100179851_T->C 10 100179851 100179851 T C snp 2682.77 0/1 99 248 140 108 0.44 exonic rs2296436 HPS1 AR nonsynonymous SNV NM_000195 exon18 c.A1808G p.Q603R 0.123403 0.1538 0.103183 0.0991 0.1429 1 T 1.0 P -1.006 T 0.0 T 0.004 T CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=Hermansky-Pudlak_syndrome_1|not_specified;CLNREVSTAT=no_assertion_criteria_provided|criteria_provided\x2c_single_submitter;CLNACC=RCV000020189.1|RCV000150810.1;CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:Orphanet|MedGen;CLNDSDBID=NBK1287:C2931875:203300:ORPHA231500:ORPHA79430|CN169374 Pathogenic 10_100182285_T->C 10 100182285 100182285 T C snp 2008.77 0/1 99 194 103 91 0.47 intronic rs2296435 HPS1 AR NM_000195 exon4 c.4950+15T>C 0.257588 0.3472 0.205905 0.2696 0.3449 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_multiple_submitters\x2c_no_conflicts;CLNACC=RCV000153370.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 10_100183570_G->C 10 100183570 100183570 G C snp 1093.77 0/1 99 85 41 44 0.52 exonic rs2296434 HPS1 AR nonsynonymous SNV NM_000195 exon15 c.C1472G p.P491R 0.124401 0.1716 0.093111 0.1045 0.1843 0.01 T 1.0 P -1.141 T 0.999 D 0.967 D CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=Hermansky-Pudlak_syndrome_1|not_specified;CLNREVSTAT=no_assertion_criteria_provided|criteria_provided\x2c_single_submitter;CLNACC=RCV000020184.1|RCV000150811.1;CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:Orphanet|MedGen;CLNDSDBID=NBK1287:C2931875:203300:ORPHA231500:ORPHA79430|CN169374 Pathogenic 10_100183774_A->G 10 100183774 100183774 A G snp 711.77 1/1 54 20 0 20 1.0 intronic rs10883093 HPS1 AR NM_000195 exon6 c.6324+130A>G 0.99381 1 Uncertain 10_100184062_C->A 10 100184062 100184062 C A snp 1128.77 0/1 99 105 54 51 0.49 intronic rs2296433 HPS1 AR NM_000195 exon7 c.6749-7C>A 0.255791 0.3641 0.170844 0.2641 0.3390 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_multiple_submitters\x2c_no_conflicts;CLNACC=RCV000150812.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 10_100184063_C->G 10 100184063 100184063 C G snp 1139.77 0/1 99 104 54 50 0.48 intronic rs2296432 HPS1 AR NM_000195 exon7 c.6749-6C>G 0.255791 0.3641 0.171382 0.2644 0.3393 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_multiple_submitters\x2c_no_conflicts;CLNACC=RCV000150813.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 10_100185250_C->T 10 100185250 100185250 C T snp 140.77 0/1 99 17 12 5 0.29 intronic rs41317034 HPS1 AR NM_000195 exon8 c.7977-47C>T 0.124601 0.1756 0.091567 0.1126 0.2008 Uncertain 10_100189076_G->C 10 100189076 100189076 G C snp 93.28 1/1 9 3 0 3 1.0 intronic rs12242431 HPS1 AR NM_000195 exon11 c.12009-253G>C 0.205671 0.1984 Uncertain 10_100189138_A->G 10 100189138 100189138 A G snp 1331.77 1/1 96 43 0 43 1.0 intronic rs1061135 HPS1 AR NM_000195 exon11 c.12009-191A>G 0.555511 0.625 Uncertain 10_100189242_G->A 10 100189242 100189242 G A snp 3445.77 1/1 99 130 0 130 1.0 intronic rs34533614 HPS1 AR NM_000195 exon11 c.12009-87G>A 0.142971 0.2024 0.137706 0.1386 0.1834 Uncertain 10_100189252_G->A 10 100189252 100189252 G A snp 3726.77 1/1 99 143 1 142 0.99 intronic rs1061134 HPS1 AR NM_000195 exon11 c.12009-77G>A 0.11222 0.1528 0.107950 0.1117 0.1499 Uncertain 10_100195130_G->A 10 100195130 100195130 G A snp 5750.77 1/1 99 215 0 215 1.0 exonic rs11539873 HPS1 AR synonymous SNV NM_000195 exon5 c.C297T p.T99T 0.0638978 0.1508 0.043672 0.0633 0.1399 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000150814.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 10_100219314_G->A 10 100219314 100219314 G A snp 1546.77 1/1 99 56 0 56 1.0 UTR3 rs10883099 HPSE2 AR 0.529752 0.5109 0.531216 0.5039 0.5442 Uncertain 10_100219374_T->A 10 100219374 100219374 T A snp 2070.77 1/1 99 76 0 76 1.0 exonic rs10883100 HPSE2 AR nonsynonymous SNV NM_021828 exon12 c.A1736T p.Y579F 0.530551 0.5119 0.532293 0.5046 0.5443 1 T 1.000 P -1.098 T 0.996 D 0.98 D Pathogenic 10_100219519_G->A 10 100219519 100219519 G A snp 1637.77 1/1 99 62 0 62 1.0 intronic rs11189618 HPSE2 AR NM_021828 exon1 c.166+23G>A 0.530551 0.5119 0.530755 0.5189 0.5653 Uncertain 10_100242345_C->G 10 100242345 100242345 C G snp 621.77 1/1 48 17 0 17 1.0 intronic rs1932800 HPSE2 AR NM_021828 exon2 c.23062-47C>G 0.315096 0.2222 0.290404 0.2074 0.2296 Uncertain 10_100250020_ACACACACAC->- 10 100250020 100250029 ACACACACAC - indel 2642.73 1/1 69 36 0 36 1.0 intronic rs398054639 HPSE2 AR NM_021828 exon3 c.30623+67_30623+76delACACACACAC 0.771965 0.8155 Uncertain 10_100401745_T->C 10 100401745 100401745 T C snp 460.77 0/1 99 40 25 15 0.38 intronic rs693656 HPSE2 AR NM_021828 exon6 c.182367+48T>C 0.376997 0.5456 0.280793 0.2922 0.5188 Uncertain 10_100453843_C->T 10 100453843 100453843 C T snp 182.77 0/1 99 9 3 6 0.67 intronic rs10883161 HPSE2 AR NM_021828 exon7 c.234374+139C>T 0.0792732 0.1915 Uncertain 10_100991971_-->ACACAC 10 100991971 100991971 - ACACAC indel 372.73 0/1 99 10 3 7 0.7 intronic HPSE2 AR NM_021828 exon11 c.772774-133insACACAC Uncertain 10_101090428_T->G 10 101090428 101090428 T G snp 2223.77 0/1 99 164 77 87 0.53 exonic rs2862600 CNNM1 AU synonymous SNV NM_020348 exon1 c.T1284G p.V428V 0.869808 0.872 0.868292 0.8388 0.8630 Uncertain 10_101117557_G->A 10 101117557 101117557 G A snp 103.77 0/1 99 18 12 6 0.33 intronic rs3750895 CNNM1 AU NM_020348 exon2 c.28268+145G>A 0.155551 0.2758 Uncertain 10_101166544_C->T 10 101166544 101166544 C T snp 1683.77 0/1 99 148 77 71 0.48 exonic rs2234971 GOT1 AU synonymous SNV NM_002079 exon3 c.G363A p.A121A 0.117412 0.1845 0.099416 0.1313 0.1871 Uncertain 10_101372411_T->C 10 101372411 101372411 T C snp 1537.77 1/1 99 48 0 48 1.0 intronic rs880568 SLC25A28 AU NM_031212 exon2 c.1751+55T>C 0.837859 0.7817 0.848664 0.8636 0.7742 Uncertain 10_101420161_A->- 10 101420161 101420161 A - indel 495.73 0/1 99 31 14 17 0.55 intronic rs398075453 ENTPD7 AU NM_020354 exon2 c.8+440delA 0.0710863 0.2827 Uncertain 10_101420284_CACACACA->- 10 101420284 101420291 CACACACA - indel 1003.73 1/1 36 34 0 34 1.0 intronic rs71933840 ENTPD7 AU NM_020354 exon2 c.8+563_8+570delCACACACA 0.1476 0.3115 Uncertain 10_101420316_C->G 10 101420316 101420316 C G snp 155.77 0/1 99 12 5 7 0.58 intronic rs7093631 ENTPD7 AU NM_020354 exon2 c.8+595C>G 0.250799 0.3036 Uncertain 10_101420318_C->G 10 101420318 101420318 C G snp 396.77 1/1 30 12 0 12 1.0 intronic rs6584305 ENTPD7 AU NM_020354 exon2 c.8+597C>G 0.430312 0.5863 Uncertain 10_101420324_T->G 10 101420324 101420324 T G snp 150.77 0/1 99 12 6 6 0.5 intronic rs11190227 ENTPD7 AU NM_020354 exon2 c.8+603T>G 0.126398 0.2867 Uncertain 10_101439252_G->A 10 101439252 101439252 G A snp 2298.77 1/1 99 77 1 76 0.99 intronic rs3740079 ENTPD7 AU NM_020354 exon4 c.19510+29G>A 0.852236 0.7817 0.855682 0.8685 0.7776 Uncertain 10_101445591_A->C 10 101445591 101445591 A C snp 1241.77 0/1 99 122 63 59 0.48 exonic rs3740078 ENTPD7 AU synonymous SNV NM_020354 exon6 c.A591C p.P197P 0.251597 0.2956 0.276103 0.2657 0.2946 Uncertain 10_101451259_T->C 10 101451259 101451259 T C snp 560.77 0/1 99 49 26 23 0.47 exonic rs11190245 ENTPD7 AU nonsynonymous SNV NM_020354 exon8 c.T827C p.V276A 0.230631 0.2956 0.259880 0.2560 0.2955 0.83 T 0.000 P -0.968 T 0.002 T 0.003 T Pathogenic 10_101462193_C->T 10 101462193 101462193 C T snp 303.78 1/1 24 9 0 9 1.0 intronic rs10748790 ENTPD7 AU NM_020354 exon12 c.42555-75C>T 0.826877 0.7827 Uncertain 10_101473218_A->G 10 101473218 101473218 A G snp 3201.82 1/1 99 112 0 112 1.0 exonic rs2231687 COX15 AR,AO nonsynonymous SNV NM_004376 exon9 c.T1120C p.F374L 0.827077 0.7817 0.834845 0.8610 0.7743 0.05 T 0.0 P -1.050 T 0.0 T 0.0 T CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000116814.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 10_101474499_T->C 10 101474499 101474499 T C snp 144.77 0/1 99 13 7 6 0.46 intronic rs11190255 COX15 AR,AO NM_078470 exon1 c.132+24T>C 0.233427 0.2956 0.261110 0.2572 0.2953 Uncertain 10_101480604_-->AG 10 101480604 101480604 - AG indel 824.73 1/1 51 17 0 17 1.0 intronic rs35968276 COX15 AR,AO NM_078470 exon4 c.6400-139insAG 0.882188 0.7817 Uncertain 10_101515316_T->C 10 101515316 101515316 T C snp 301.77 0/1 99 14 5 9 0.64 intronic rs3184991 CUTC AU NM_015960 exon9 c.23276-65T>C 0.255192 0.3175 Uncertain 10_101544447_A->T 10 101544447 101544447 A T snp 3063.77 1/1 99 115 0 115 1.0 exonic rs927344 ABCC2 AR nonsynonymous SNV NM_000392 exon2 c.A116T p.Y39F 0.994609 1 0.993465 0.9980 1 1 T 0.005 P -0.937 T 0.0 T 0.0 T Pathogenic 10_101551902_C->T 10 101551902 101551902 C T snp 802.77 1/1 60 27 0 27 1.0 intronic rs2756108 ABCC2 AR NM_000392 exon3 c.9389-88C>T 0.994209 1 Uncertain 10_101554311_T->A 10 101554311 101554311 T A snp 419.77 0/1 99 26 8 18 0.69 intronic rs142493446 ABCC2 AR NM_000392 exon6 c.11624+86T>A 0.0129792 0.0565 Uncertain 10_101571198_C->- 10 101571198 101571198 C - indel 205.73 0/1 99 18 11 7 0.39 intronic ABCC2 AR NM_000392 exon15 c.28691-94delC Uncertain 10_101571528_C->T 10 101571528 101571528 C T snp 806.77 1/1 60 23 0 23 1.0 intronic rs3740074 ABCC2 AR NM_000392 exon15 c.28758+169C>T 0.640974 0.749 Uncertain 10_101576960_T->C 10 101576960 101576960 T C snp 888.77 1/1 66 23 0 23 1.0 intronic rs3740073 ABCC2 AR NM_000392 exon17 c.34463-104T>C 0.692891 0.748 Uncertain 10_101578641_C->T 10 101578641 101578641 C T snp 936.77 0/1 99 90 46 44 0.49 exonic rs56220353 ABCC2 AR nonsynonymous SNV NM_000392 exon18 c.C2366T p.S789F 0.00179712 0.0089 0.0007 0.0095 0 D 1 D 0.936 D 1.0 D 0.999 D ID=CM045738;DIS=Reduced expression;TAG=FP;PUB=15180328 FP Pathogenic 10_101591944_T->C 10 101591944 101591944 T C snp 1243.77 1/1 90 37 0 37 1.0 intronic rs4148396 ABCC2 AR NM_000392 exon23 c.49287+56T>C 0.685304 0.753 Uncertain 10_101602004_T->C 10 101602004 101602004 T C snp 347.77 0/1 99 33 20 13 0.39 intronic rs3758395 ABCC2 AR NM_000392 exon26 c.59249+154T>C 0.128195 0.3095 Uncertain 10_101716484_G->A 10 101716484 101716484 G A snp 2026.77 0/1 99 189 103 86 0.46 exonic rs3750715 DNMBP AU synonymous SNV NM_015221 exon4 c.C747T p.V249V 0.0758786 0.2937 0.007612 0.0427 0.3108 Uncertain 10_101814302_A->G 10 101814302 101814302 A G snp 564.77 0/1 99 34 13 21 0.62 intronic rs11190381 CPN1 AR NM_001308 exon3 c.12020+99A>G 0.0732827 0.2688 Uncertain 10_101823396_C->T 10 101823396 101823396 C T snp 1293.77 0/1 99 133 68 65 0.49 exonic rs17852464 CPN1 AR synonymous SNV NM_001308 exon5 c.G846A p.G282G 0.0680911 0.2679 0.009073 0.0320 0.2585 Uncertain 10_101841153_A->G 10 101841153 101841153 A G snp 436.77 1/1 33 14 0 14 1.0 intronic rs10883439 CPN1 AR NM_001308 exon9 c.38976-6A>G 0.892971 0.9325 0.902507 0.8718 0.9349 Uncertain 10_101937969_A->G 10 101937969 101937969 A G snp 938.77 0/1 99 122 78 44 0.36 intronic rs3750707 ERLIN1 AR NM_006459 exon8 c.26064+18A>G 0.190695 0.3641 0.097439 0.1344 0.4252 Uncertain 10_101967212_C->G 10 101967212 101967212 C G snp 239.77 0/1 99 36 25 11 0.31 intronic rs7909855 CHUK AU NM_001278 exon11 c.17735+123C>G 0.535942 0.5099 Uncertain 10_101977883_C->T 10 101977883 101977883 C T snp 1305.77 0/1 99 110 55 55 0.5 exonic rs2230804 CHUK AU nonsynonymous SNV NM_001278 exon9 c.G802A p.V268I 0.545727 0.5109 0.583039 0.4791 0.4865 0.26 T 0.000 P -0.950 T 0.0 T 0.001 T Pathogenic 10_101980459_A->G 10 101980459 101980459 A G snp 1074.77 1/1 78 32 0 32 1.0 intronic rs986266 CHUK AU NM_001278 exon17 c.31079+26A>G 0.976837 1 0.975292 0.9931 0.9999 Uncertain 10_102006429_T->C 10 102006429 102006429 T C snp 348.77 0/1 99 19 7 12 0.63 intronic rs4919438 CWF19L1 AR NM_001303407 exon7 c.13568-122T>C 0.536941 0.5109 Uncertain 10_102006681_C->T 10 102006681 102006681 C T snp 1153.77 0/1 99 108 61 47 0.44 exonic rs17112787 CWF19L1 AR synonymous SNV NM_018294 exon8 c.G720A p.A240A 0.108427 0.3026 0.041596 0.0470 0.2712 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000116859.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 10_102016268_G->A 10 102016268 102016268 G A snp 1108.77 0/1 99 84 39 45 0.54 intronic rs2270961 CWF19L1 AR NM_001303405 exon10 c.23250+35G>A 0.538738 0.5109 0.574273 0.4779 0.4917 Uncertain 10_102054602_T->C 10 102054602 102054602 T C snp 134.77 0/1 99 14 9 5 0.36 intronic rs2242051 PKD2L1 AU NM_001253837 exon9 c.6546-96T>C 0.172724 0.2986 Uncertain 10_102088906_C->T 10 102088906 102088906 C T snp 2210.77 1/1 99 83 0 83 1.0 intronic rs3829159 PKD2L1 AU NM_001253837 exon15 c.40815-61C>T 0.694888 0.6786 Uncertain 10_102107251_C->G 10 102107251 102107251 C G snp 3955.77 1/1 99 146 0 146 1.0 UTR5 rs1054411 SCD AU 0.282748 0.3591 0.320225 0.3712 0.3621 Uncertain 10_102116209_TCCCC->- 10 102116209 102116213 TCCCC - indel 8160.73 1/1 99 107 0 107 1.0 intronic rs111712956 SCD AU NM_005063 exon5 c.9027-79_9027-75delTCCCC 0.400958 0.4018 Uncertain 10_102116311_A->C 10 102116311 102116311 A C snp 4716.77 1/1 99 179 0 179 1.0 exonic rs2234970 SCD AU nonsynonymous SNV NM_005063 exon5 c.A670C p.M224L 0.388978 0.4028 0.399585 0.4038 0.3946 1 T 0.0 P -0.983 T 0.0 T 0.0 T Pathogenic 10_102223077_A->G 10 102223077 102223077 A G snp 139.77 0/1 99 15 9 6 0.4 intronic rs17113113 WNT8B AU NM_003393 exon1 c.68+84A>G 0.0129792 0.0585 Uncertain 10_102259706_T->G 10 102259706 102259706 T G snp 874.77 1/1 66 26 0 26 1.0 intronic rs2273696 SEC31B AU NM_015490 exon15 c.11983+351T>G 0.205871 0.2589 Uncertain 10_102265057_AC->- 10 102265057 102265058 AC - indel 346.73 0/1 99 57 42 15 0.26 intronic rs140191147 SEC31B AU NM_015490 exon17 c.17745-60_17745-59delAC Uncertain 10_102276497_T->A 10 102276497 102276497 T A snp 178.77 0/1 99 24 15 9 0.38 intronic rs565081162 SEC31B AU NM_015490 exon25 c.29258-133T>A 0.000599042 0.003 Uncertain 10_102295836_C->G 10 102295836 102295836 C G snp 2918.77 1/1 99 109 0 109 1.0 exonic rs2295778 HIF1AN AU nonsynonymous SNV NM_017902 exon1 c.C121G p.P41A 0.180711 0.253 0.186350 0.2539 0.2620 0.15 T 0.997 P -1.102 T 0.002 T 0.0 T ID=CM065271;DIS=Colorectal cancer, increased risk, association with;TAG=DP;PUB=17000706 DP Pathogenic 10_102296188_C->T 10 102296188 102296188 C T snp 1019.77 0/1 99 81 41 40 0.49 exonic rs11553944 HIF1AN AU synonymous SNV NM_017902 exon2 c.C198T p.D66D 0.0119808 0.0536 0.002153 0.0069 0.0629 Uncertain 10_102505815_A->G 10 102505815 102505815 A G snp 176.9 1/1 15 5 0 5 1.0 UTR5 rs11190680 PAX2 AD 0.849641 0.998 Uncertain 10_102506070_G->C 10 102506070 102506070 G C snp 5829.77 1/1 99 216 0 216 1.0 intronic rs4472867 PAX2 AD NM_003990 exon1 c.43+10G>C 0.846645 0.998 0.774992 0.8365 0.9991 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000080359.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 10_102506103_C->A 10 102506103 102506103 C A snp 4154.77 1/1 99 147 0 147 1.0 intronic rs4405241 PAX2 AD NM_003990 exon1 c.43+43C>A 0.499601 0.9534 0.335128 0.4645 0.9620 Uncertain 10_102672718_T->C 10 102672718 102672718 T C snp 6824.77 1/1 99 250 0 250 1.0 UTR5 rs3802724 FAM178A AU 0.360823 0.5446 Uncertain 10_102676270_TAAATAT->- 10 102676270 102676276 TAAATAT - indel 408.73 0/1 99 11 6 5 0.45 intronic rs202118103 FAM178A AU NM_001136123 exon3 c.3459-56_3459-50delTAAATAT 0.00539137 0.0258 Uncertain 10_102703978_C->T 10 102703978 102703978 C T snp 218.84 1/1 18 6 0 6 1.0 intronic rs3740481 FAM178A AU NM_001136123 exon12 c.31018+93C>T 0.767173 0.6071 Uncertain 10_102703981_G->A 10 102703981 102703981 G A snp 180.9 1/1 15 5 0 5 1.0 intronic rs3740482 FAM178A AU NM_001136123 exon12 c.31018+96G>A 0.765974 0.6052 Uncertain 10_102705058_-->T 10 102705058 102705058 - T indel 352.73 1/1 33 11 0 11 1.0 intronic rs397781122 FAM178A AU NM_001136123 exon13 c.32219-28insT 0.359026 0.5248 0.257316 0.2722 0.5569 Uncertain 10_102732813_A->C 10 102732813 102732813 A C snp 7431.77 1/1 99 249 1 248 1.0 intronic rs41291460 SEMA4G AU NM_001203244 exon1 c.124+20A>C 0.356629 0.5268 0.258650 0.2694 0.5563 Uncertain 10_102733407_C->A 10 102733407 102733407 C A snp 2028.77 1/1 99 70 0 70 1.0 intronic rs41291462 SEMA4G AU NM_001203244 exon3 c.697+41C>A 0.355032 0.5268 0.258189 0.2728 0.5577 Uncertain 10_102734778_C->G 10 102734778 102734778 C G snp 582.77 1/1 45 20 0 20 1.0 ncRNA_exonic rs4919510 MIR608 AU 0.363818 0.5248 0.262621 0.2708 0.5479 ID=CR125780;DIS=Breast cancer, HER2-positive, increased risk;TAG=DP;PUB=22586447 DP Uncertain 10_102738551_A->G 10 102738551 102738551 A G snp 1700.77 1/1 99 52 0 52 1.0 UTR3 rs67813203 MRPL43 AU 0.364018 0.5268 Uncertain 10_102740271_T->C 10 102740271 102740271 T C snp 1610.77 1/1 99 47 0 47 1.0 intronic rs67692077 MRPL43 AU NM_176792 exon1 c.120+1142T>C 0.353035 0.5278 Uncertain 10_102744214_T->C 10 102744214 102744214 T C snp 517.77 1/1 39 15 0 15 1.0 UTR3 rs2295716 SEMA4G AU 0.36242 0.5278 0.3164 0.5808 Uncertain 10_102746503_C->T 10 102746503 102746503 C T snp 6138.77 1/1 99 209 2 207 0.99 exonic;splicing rs2863095 MRPL43;MRPL43 UN synonymous SNV NM_032112 exon3 c.G468A p.V156V 0.352636 0.5268 0.256958 0.2678 0.5538 Uncertain 10_102750621_C->T 10 102750621 102750621 C T snp 4144.77 1/1 99 145 0 145 1.0 splicing rs3740485 C10orf2 AU NM_001163813 exon4 c.1106-4C>T 0.375998 0.5298 0.258189 0.2751 0.5520 CLINSIG=non-pathogenic;CLNDBN=not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000124041.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Pathogenic 10_102750623_T->C 10 102750623 102750623 T C snp 4076.77 1/1 99 143 0 143 1.0 splicing rs3740486 C10orf2 AU NM_001163813 exon4 c.1106-2T>C 0.375998 0.5298 0.255728 0.2752 0.5524 CLINSIG=non-pathogenic;CLNDBN=not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000124042.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Pathogenic 10_102750783_C->A 10 102750783 102750783 C A snp 2014.77 1/1 99 66 1 65 0.98 intronic rs3740487 C10orf2 AU NM_001163813 exon4 c.1248+16C>A 0.375799 0.5288 0.285099 0.2755 0.5529 CLINSIG=non-pathogenic;CLNDBN=not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000124043.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Uncertain 10_102750851_G->A 10 102750851 102750851 G A snp 499.77 1/1 39 14 0 14 1.0 intronic rs3824783 C10orf2 AU NM_001163812 exon4 c.2844+40G>A 0.376198 0.5288 Uncertain 10_102764047_C->T 10 102764047 102764047 C T snp 174.9 1/1 15 6 0 6 1.0 intronic rs807029 LZTS2 AU NM_032429 exon3 c.1628+124C>T 0.437101 0.5238 Uncertain 10_102766574_A->G 10 102766574 102766574 A G snp 990.77 1/1 72 32 0 32 1.0 exonic rs807024 LZTS2 AU synonymous SNV NM_032429 exon5 c.A1659G p.A553A 0.367412 0.5387 0.273541 0.3130 0.5555 Uncertain 10_102767117_C->A 10 102767117 102767117 C A snp 421.77 1/1 33 12 0 12 1.0 UTR3 rs701836 LZTS2 AU 0.363419 0.5278 Uncertain 10_102767155_C->G 10 102767155 102767155 C G snp 849.77 1/1 63 23 0 23 1.0 UTR3 rs14177 LZTS2 AU 0.357628 0.5288 0.3400 0.5896 Uncertain 10_102767285_G->A 10 102767285 102767285 G A snp 1340.77 0/1 99 124 63 61 0.49 UTR3 rs142721605 LZTS2 AU 0.00459265 0.0228 0.0006 0.0297 0 D 1 N -0.998 T Uncertain 10_102770082_T->G 10 102770082 102770082 T G snp 5140.77 1/1 99 189 0 189 1.0 exonic rs807023 PDZD7 AR,AO nonsynonymous SNV NM_001195263 exon15 c.A2564C p.N855T 0.772963 0.6647 0.8122 0.6712 0.56 T 0.0 P -1.030 T CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_multiple_submitters\x2c_no_conflicts;CLNACC=RCV000037105.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 10_102770327_A->G 10 102770327 102770327 A G snp 2484.77 1/1 99 91 0 91 1.0 exonic rs807022 PDZD7 AR,AO synonymous SNV NM_001195263 exon15 c.T2319C p.R773R 0.776158 0.6637 0.8109 0.6720 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_multiple_submitters\x2c_no_conflicts;CLNACC=RCV000037100.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 10_102771573_G->A 10 102771573 102771573 G A snp 1847.77 1/1 99 61 0 61 1.0 intronic rs807020 PDZD7 AR,AO NM_001195263 exon4 c.3295+55G>A 0.376797 0.5724 Uncertain 10_102792094_C->T 10 102792094 102792094 C T snp 169.9 1/1 15 6 0 6 1.0 UTR5 rs3740497 SFXN3 AU 0.149361 0.2312 Uncertain 10_102792295_G->A 10 102792295 102792295 G A snp 1693.77 1/1 99 66 0 66 1.0 intronic rs807014 SFXN3 AU NM_030971 exon2 c.9+56G>A 0.955671 0.999 0.906045 Uncertain 10_103221871_AGG->- 10 103221871 103221873 AGG - indel 3253.73 1/1 99 58 0 58 1.0 intronic rs397824954 BTRC AU NM_033637 exon3 c.107878+56_107878+58delAGG 0.997005 1 0.996071 Uncertain 10_103281634_C->G 10 103281634 103281634 C G snp 629.77 0/1 99 55 33 22 0.4 intronic rs6584429 BTRC AU NM_001256856 exon4 c.167690+7C>G 0.415535 0.6171 0.305628 0.2639 0.6209 Uncertain 10_103281676_G->A 10 103281676 103281676 G A snp 692.77 1/1 51 19 0 19 1.0 intronic rs6584430 BTRC AU NM_001256856 exon4 c.167690+49G>A 0.453275 0.6796 0.312394 0.2928 0.6798 Uncertain 10_103292554_-->GCGC 10 103292554 103292554 - GCGC indel 535.74 1/1 27 9 0 9 1.0 intronic rs10627782 BTRC AU NM_001256856 exon8 c.178771-154insGCGC 0.777955 0.8581 Uncertain 10_103340188_G->A 10 103340188 103340188 G A snp 2376.77 0/1 99 188 83 105 0.56 intronic rs56356419 POLL AU NM_001174085 exon2 c.964+15G>A 0.0115815 0.0546 0.000231 0.0065 0.0645 Uncertain 10_103345293_C->T 10 103345293 103345293 C T snp 413.77 0/1 99 36 18 18 0.5 intronic POLL AU NM_001174085 exon6 c.6026+58C>T Uncertain 10_103354618_G->A 10 103354618 103354618 G A snp 182.77 0/1 99 18 11 7 0.39 intronic rs117791696 DPCD AU NM_015448 exon2 c.6402+123G>A 0.00878594 0.0407 Uncertain 10_103454391_C->G 10 103454391 103454391 C G snp 552.77 0/1 99 59 33 26 0.44 exonic rs111600818 FBXW4 AU nonsynonymous SNV NM_022039 exon1 c.G7C p.A3P 0.0305511 0.0575 0.000600 0.0237 0.0312 0.22 T 0.006 P -0.984 T 0.172 T 0.07 T Pathogenic 10_103454423_G->T 10 103454423 103454423 G T snp 532.77 0/1 99 51 26 25 0.49 UTR5 rs117664315 FBXW4 AU 0.0307508 0.0575 0.002959 0.0177 0.0143 Uncertain 10_103541948_C->T 10 103541948 103541948 C T snp 115.77 0/1 93 9 3 6 0.67 intronic rs3816354 NPM3 AU NM_006993 exon3 c.522-66C>T 0.26258 0.5069 Uncertain 10_103550604_T->C 10 103550604 103550604 T C snp 261.77 0/1 99 20 8 12 0.6 intronic rs1124714 MGEA5 AU NM_012215 exon3 c.4445-48T>C 0.277556 0.5079 0.198262 0.2402 0.5718 Uncertain 10_103560186_A->C 10 103560186 103560186 A C snp 251.77 0/1 99 25 14 11 0.44 intronic rs2305194 MGEA5 AU NM_012215 exon9 c.13950+29A>C 0.275559 0.5089 0.188836 0.2335 0.5573 Uncertain 10_103565960_G->C 10 103565960 103565960 G C snp 1121.77 0/1 99 88 45 43 0.49 intronic rs3740422 MGEA5 AU NM_012215 exon11 c.19693+60G>C 0.201078 0.2351 Uncertain 10_103587552_G->A 10 103587552 103587552 G A snp 2529.77 0/1 99 193 84 109 0.56 ncRNA_intronic rs2305189 KCNIP2-AS1 AU 0.26897 0.5079 0.181224 0.2214 0.5501 Uncertain 10_103588734_A->G 10 103588734 103588734 A G snp 4177.77 1/1 99 138 0 138 1.0 intronic rs1562364 KCNIP2 AU NM_173194 exon7 c.1722-97A>G 0.541933 0.75 Uncertain 10_103599325_A->T 10 103599325 103599325 A T snp 517.77 1/1 39 15 0 15 1.0 intronic rs874885 KCNIP2 AU NM_173194 exon8 c.12400-184A>T 0.522764 0.7063 Uncertain 10_103603162_G->T 10 103603162 103603162 G T snp 722.77 0/1 99 66 31 35 0.53 intronic rs12413444 KCNIP2 AU NM_173193 exon8 c.16143-90G>T 0.159345 0.2212 Uncertain 10_103609704_G->T 10 103609704 103609704 G T snp 656.77 0/1 99 49 22 27 0.55 intronic rs7918620 C10orf76 AU NM_024541 exon2 c.2365+55G>T 0.310703 0.4722 Uncertain 10_103717493_-->A 10 103717493 103717493 - A indel 217.79 1/1 19 21 1 20 0.95 splicing rs370503995 C10orf76 AU NM_024541 exon6 c.110205+4insA 0.383586 0.4911 0.4887 0.4859 Pathogenic 10_103792789_T->C 10 103792789 103792789 T C snp 1757.77 0/1 99 137 68 69 0.5 exonic rs192506067 C10orf76 AU synonymous SNV NM_024541 exon4 c.A300G p.A100A 0.000599042 0.003 0.0003 0.0041 Uncertain 10_103793236_G->T 10 103793236 103793236 G T snp 30.77 0/1 59 6 4 2 0.33 intronic C10orf76 AU NM_024541 exon24 c.185812+140G>T Uncertain 10_103799758_C->T 10 103799758 103799758 C T snp 1802.77 0/1 99 146 69 77 0.53 intronic rs11191190 C10orf76 AU NM_024541 exon25 c.192485-11C>T 0.322684 0.5129 0.255911 0.2804 0.5526 Uncertain 10_103825747_G->A 10 103825747 103825747 G A snp 883.77 0/1 99 91 49 42 0.46 exonic rs3737243 HPS6 AU synonymous SNV NM_024747 exon1 c.G516A p.G172G 0.0660942 0.1429 0.070801 0.0993 0.1583 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_multiple_submitters\x2c_no_conflicts;CLNACC=RCV000150832.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 10_103899871_A->G 10 103899871 103899871 A G snp 2173.77 0/1 99 153 75 78 0.51 exonic rs17114388 PPRC1 AU nonsynonymous SNV NM_001288727 exon5 c.A1606G p.S536G 0.0632987 0.1726 0.003921 0.0325 0.1929 0.33 T 0.0 P -1.049 T 0.001 T 0.004 T ID=COSM147035;OCCURENCE=1(stomach) Pathogenic 10_103904764_C->- 10 103904764 103904764 C - indel 2895.73 1/1 99 96 1 95 0.99 intronic rs11357964 PPRC1 AU NM_015062 exon8 c.11951-12delC 0.677516 0.5119 0.7620 0.5158 Uncertain 10_103991381_G->A 10 103991381 103991381 G A snp 2242.77 1/1 99 82 0 82 1.0 exonic rs2281983 PITX3 AD synonymous SNV NM_005029 exon3 c.C285T p.I95I 0.664137 0.7718 0.663232 0.6470 0.7828 ID=CM116542;DIS=Parkinson disease, association with;TAG=DP;PUB=21469209 DP Uncertain 10_104111570_A->G 10 104111570 104111570 A G snp 2413.77 0/1 99 203 105 98 0.48 intronic rs2297759 GBF1 AU NM_001199378 exon6 c.92904-29A>G 0.0173722 0.0853 0.000077 0.0059 0.0812 Uncertain 10_104127171_G->A 10 104127171 104127171 G A snp 4084.77 1/1 99 140 0 140 1.0 intronic rs2273555 GBF1 AU NM_001199378 exon21 c.108539-63G>A 0.595847 0.7718 Uncertain 10_104127940_G->A 10 104127940 104127940 G A snp 229.77 0/1 99 19 9 10 0.53 intronic rs4141757 GBF1 AU NM_001199378 exon22 c.109279-34G>A 0.000599042 0.003 0.0003 0.0039 Uncertain 10_104128954_T->A 10 104128954 104128954 T A snp 2076.77 1/1 99 78 0 78 1.0 intronic rs7902882 GBF1 AU NM_001199378 exon24 c.110272-13T>A 0.988219 1 0.989851 0.9971 1 Uncertain 10_104136469_T->C 10 104136469 104136469 T C snp 7257.77 1/1 99 249 0 249 1.0 exonic rs2180707 GBF1 AU synonymous SNV NM_001199378 exon32 c.T4200C p.I1400I 0.995807 1 0.995541 0.9988 1 Uncertain 10_104156911_A->G 10 104156911 104156911 A G snp 71.77 0/1 99 8 5 3 0.38 intronic rs12772374 NFKB2 AD NM_002502 exon6 c.1096+99A>G 0.106629 0.1786 Uncertain 10_104157727_C->T 10 104157727 104157727 C T snp 1133.77 1/1 81 39 0 39 1.0 intronic rs4919632 NFKB2 AD NM_002502 exon9 c.2021-10C>T 0.922125 0.999 0.922185 0.9646 0.9993 Uncertain 10_104159196_A->G 10 104159196 104159196 A G snp 1485.77 1/1 99 46 0 46 1.0 exonic rs4919633 NFKB2 AD synonymous SNV NM_001077494 exon13 c.A1269G p.P423P 0.986821 1 0.991855 0.9971 1 Uncertain 10_104159685_TGC->- 10 104159685 104159687 TGC - indel 859.73 0/1 99 33 16 17 0.52 intronic NFKB2 AD NM_002502 exon15 c.4120-151_4120-149delTGC Uncertain 10_104160434_A->G 10 104160434 104160434 A G snp 2591.77 1/1 99 90 0 90 1.0 exonic rs4919634 NFKB2 AD synonymous SNV NM_001077494 exon17 c.A1821G p.A607A 0.986821 1 0.989479 0.9968 1 Uncertain 10_104161967_T->C 10 104161967 104161967 T C snp 6585.77 1/1 99 235 0 235 1.0 intronic rs7077329 NFKB2 AD NM_001077494 exon23 c.6292-41T>C 0.692292 0.8016 0.703974 0.6363 0.7948 Uncertain 10_104163489_G->A 10 104163489 104163489 G A snp 2075.77 1/1 99 72 1 71 0.99 intronic rs7068416 PSD AU NM_001270966 exon2 c.642-109G>A 0.995008 1 Uncertain 10_104184189_T->C 10 104184189 104184189 T C snp 2908.77 0/1 99 250 134 116 0.46 intronic rs12778231 CUEDC2 AU NM_024040 exon5 c.969+38T>C 0.10623 0.1796 0.127632 0.1380 0.1663 Uncertain 10_104210735_C->A 10 104210735 104210735 C A snp 786.77 0/1 99 67 31 36 0.54 exonic rs2281878 C10orf95 AU nonsynonymous SNV NM_024886 exon2 c.G253T p.A85S 0.283946 0.3661 0.189418 0.3559 0.4673 0.23 T 0.000 P -0.923 T 0.426 T 0.14 T Pathogenic 10_104229057_-->A 10 104229057 104229057 - A indel 599.73 1/1 45 17 0 17 1.0 intronic rs35597970 TMEM180 AU NM_024789 exon3 c.168+103insA 0.391174 0.3075 Uncertain 10_104229785_C->T 10 104229785 104229785 C T snp 5745.77 1/1 99 213 0 213 1.0 exonic rs41306870 TMEM180 AU synonymous SNV NM_024789 exon4 c.C204T p.P68P 0.410144 0.3075 0.494233 0.4778 0.3111 Uncertain 10_104230012_C->T 10 104230012 104230012 C T snp 835.77 0/1 99 41 15 26 0.63 intronic rs3808937 TMEM180 AU NM_024789 exon4 c.1046+180C>T 0.108427 0.0486 Uncertain 10_104230064_T->C 10 104230064 104230064 T C snp 296.78 1/1 24 8 0 8 1.0 intronic rs2025712 TMEM180 AU NM_024789 exon4 c.1046+232T>C 0.410144 0.3075 Uncertain 10_104230931_TCGGTGCTGGG->- 10 104230931 104230941 TCGGTGCTGGG - indel 5977.73 1/1 99 58 0 58 1.0 intronic rs58061354 TMEM180 AU NM_024789 exon5 c.2088+57_2088+67delTCGGTGCTGGG 0.410343 0.3075 Uncertain 10_104231054_A->G 10 104231054 104231054 A G snp 1533.77 1/1 99 55 0 55 1.0 exonic rs11191295 TMEM180 AU synonymous SNV NM_024789 exon6 c.A729G p.V243V 0.410144 0.3075 0.494695 0.4784 0.3124 Uncertain 10_104231234_T->C 10 104231234 104231234 T C snp 476.77 1/1 36 13 0 13 1.0 intronic rs913028 TMEM180 AU NM_024789 exon6 c.2367+81T>C 0.997404 1 Uncertain 10_104231651_A->G 10 104231651 104231651 A G snp 443.77 1/1 33 16 0 16 1.0 intronic rs7081110 TMEM180 AU NM_024789 exon6 c.2367+498A>G 0.410144 0.3065 Uncertain 10_104231662_G->C 10 104231662 104231662 G C snp 560.77 1/1 42 19 0 19 1.0 intronic rs7081467 TMEM180 AU NM_024789 exon6 c.2367+509G>C 0.410144 0.3065 Uncertain 10_104232716_G->A 10 104232716 104232716 G A snp 6233.77 1/1 99 231 0 231 1.0 intronic rs3740415 TMEM180 AU NM_024789 exon7 c.3921+9G>A 0.410543 0.3075 0.494618 0.4784 0.3123 Uncertain 10_104232809_T->G 10 104232809 104232809 T G snp 1852.77 1/1 99 49 1 48 0.98 intronic rs3740414 TMEM180 AU NM_024789 exon7 c.3921+102T>G 0.410942 0.3075 Uncertain 10_104235799_-->T 10 104235799 104235799 - T indel 212.73 0/1 99 28 9 19 0.68 UTR3 rs35640162 TMEM180 AU Uncertain 10_104238637_C->T 10 104238637 104238637 C T snp 182.77 0/1 99 16 9 7 0.44 downstream rs138361722 ACTR1A AU 0.00459265 0.0218 Uncertain 10_104240964_C->A 10 104240964 104240964 C A snp 442.77 0/1 99 37 17 20 0.54 intronic rs191057369 ACTR1A AU NM_005736 exon2 c.310+35C>A 0.000599042 0.003 0.0004 0.0051 Uncertain 10_104241683_G->T 10 104241683 104241683 G T snp 166.77 0/1 99 21 14 7 0.33 intronic rs2296580 ACTR1A AU NM_005736 exon3 c.1036+28G>T 0.207468 0.1339 0.240735 0.2520 0.1443 Uncertain 10_104241983_T->C 10 104241983 104241983 T C snp 1148.77 0/1 99 88 41 47 0.53 intronic rs12763720 ACTR1A AU NM_005736 exon4 c.1313+51T>C 0.126198 0.1587 0.161387 0.1888 0.1417 Uncertain 10_104243065_G->A 10 104243065 104243065 G A snp 148.77 0/1 50 8 3 5 0.63 intronic rs17114540 ACTR1A AU NM_005736 exon5 c.2241+205G>A 0.0279553 0.1181 Uncertain 10_104250278_A->G 10 104250278 104250278 A G snp 892.77 0/1 99 72 36 36 0.5 intronic rs17709610 ACTR1A AU NM_005736 exon10 c.9686-27A>G 0.207668 0.1339 0.241196 0.2526 0.1446 Uncertain 10_104264107_C->T 10 104264107 104264107 C T snp 2714.77 1/1 99 102 0 102 1.0 intronic rs2274351 SUFU AD NM_001178133 exon1 c.182+16C>T 0.396166 0.3065 0.479548 0.4857 0.3184 Uncertain 10_104269217_G->A 10 104269217 104269217 G A snp 413.77 1/1 33 11 0 11 1.0 intronic rs2281880 SUFU AD NM_001178133 exon2 c.5151+157G>A 0.396765 0.3065 Uncertain 10_104356822_A->G 10 104356822 104356822 A G snp 1214.77 1/1 90 40 0 40 1.0 intronic rs10786690 SUFU AD NM_001178133 exon7 c.92987-74A>G 0.990216 0.999 Uncertain 10_104359350_T->C 10 104359350 104359350 T C snp 911.77 0/1 99 59 23 36 0.61 intronic rs3824756 SUFU AD NM_001178133 exon8 c.95392+49T>C 0.248003 0.4355 0.128673 0.1606 0.4338 Uncertain 10_104375258_G->A 10 104375258 104375258 G A snp 294.77 0/1 99 18 7 11 0.61 intronic rs2001389 SUFU AD NM_001178133 exon9 c.111250+99G>A 0.516174 0.6915 Uncertain 10_104378750_G->A 10 104378750 104378750 G A snp 514.77 0/1 99 46 23 23 0.5 intronic rs10786698 SUFU AD NM_001178133 exon11 c.114913-72G>A 0.516174 0.6915 Uncertain 10_104386934_T->C 10 104386934 104386934 T C snp 1707.77 0/1 99 166 94 72 0.43 exonic rs17114803 SUFU AD synonymous SNV NM_016169 exon11 c.T1299C p.I433I 0.246006 0.4335 0.128479 0.1587 0.4239 Uncertain 10_104387019_T->C 10 104387019 104387019 T C snp 4232.77 1/1 99 171 0 171 1.0 intronic rs12414407 SUFU AD NM_016169 exon11 c.123091+19T>C 0.719649 0.75 0.681147 0.6628 0.7466 Uncertain 10_104389932_T->G 10 104389932 104389932 T G snp 1848.77 1/1 99 63 0 63 1.0 UTR3 rs4917980 SUFU AD 0.997404 1 0.997847 0.9994 1 Uncertain 10_104414221_A->G 10 104414221 104414221 A G snp 132.77 0/1 99 11 6 5 0.45 intronic rs3850699 TRIM8 AU NM_030912 exon2 c.10035-188A>G 0.250599 0.1726 Uncertain 10_104415094_T->- 10 104415094 104415094 T - indel 1697.73 0/1 99 103 56 47 0.46 intronic rs34032774 TRIM8 AU NM_030912 exon3 c.10696+24delT 0.250599 0.1726 0.323558 0.2683 0.1703 Uncertain 10_104415720_T->C 10 104415720 104415720 T C snp 1259.77 1/1 93 37 0 37 1.0 intronic rs4274160 TRIM8 AU NM_030912 exon4 c.11488-142T>C 0.997005 1 Uncertain 10_104415811_CTCTCCCTGGA->- 10 104415811 104415821 CTCTCCCTGGA - indel 16020.7 0/1 99 250 116 134 0.54 intronic rs3217079 TRIM8 AU NM_030912 exon4 c.11488-51_11488-41delCTCTCCCTGGA 0.300723 Uncertain 10_104436641_C->T 10 104436641 104436641 C T snp 2035.77 0/1 99 180 89 91 0.51 UTR3 rs8354 ARL3 AU 0.20647 0.4494 0.073505 0.1436 0.4239 Uncertain 10_104445546_G->- 10 104445546 104445546 G - indel 399.73 0/1 99 24 12 12 0.5 intronic rs3832710 ARL3 AU NM_004311 exon2 c.8922-26delG 0.408546 0.5238 0.304073 0.4257 0.5065 Uncertain 10_104445829_T->- 10 104445829 104445829 T - indel 45.73 0/1 73 26 6 20 0.77 intronic ARL3 AU NM_004311 exon2 c.9108+71delT Uncertain 10_104459080_AA->- 10 104459080 104459081 AA - indel 3955.73 1/1 99 74 0 74 1.0 intronic rs59504153 ARL3 AU NM_004311 exon4 c.22479-49_22479-48delAA 0.997604 1 0.997523 0.9993 1 Uncertain 10_104465374_T->C 10 104465374 104465374 T C snp 189.77 0/1 99 27 18 9 0.33 intronic rs12761195 ARL3 AU NM_004311 exon5 c.28596+128T>C 0.250399 0.1508 Uncertain 10_104473813_C->A 10 104473813 104473813 C A snp 737.77 1/1 57 22 0 22 1.0 intronic rs2248684 ARL3 AU NM_004311 exon6 c.37379-216C>A 0.997604 1 Uncertain 10_104474047_CCT->- 10 104474047 104474049 CCT - indel 964.73 0/1 99 69 33 36 0.52 UTR5 rs143938405 ARL3 AU 0.0756789 0.131 0.1155 0.1370 Uncertain 10_104474107_G->A 10 104474107 104474107 G A snp 1079.77 1/1 78 38 0 38 1.0 UTR5 rs2248679 ARL3 AU 0.997604 1 0.997139 Uncertain 10_104486304_G->C 10 104486304 104486304 G C snp 1340.77 1/1 99 41 0 41 1.0 intronic rs2244647 SFXN2 AU 0.735423 0.7351 Uncertain 10_104486974_C->T 10 104486974 104486974 C T snp 826.77 0/1 99 65 29 36 0.55 intronic rs2244524 SFXN2 AU NM_178858 exon3 c.521+60C>T 0.481829 0.5823 Uncertain 10_104487072_G->T 10 104487072 104487072 G T snp 222.84 1/1 18 6 0 6 1.0 intronic rs2244518 SFXN2 AU NM_178858 exon3 c.521+158G>T 0.997804 1 Uncertain 10_104488914_A->G 10 104488914 104488914 A G snp 121.03 1/1 12 4 0 4 1.0 intronic rs2244257 SFXN2 AU NM_178858 exon5 c.2682-161A>G 0.969649 0.999 Uncertain 10_104489011_G->C 10 104489011 104489011 G C snp 1962.77 1/1 99 66 0 66 1.0 intronic rs2244254 SFXN2 AU NM_178858 exon5 c.2682-64G>C 0.747005 0.7331 Uncertain 10_104492707_G->C 10 104492707 104492707 G C snp 2067.77 1/1 99 77 0 77 1.0 intronic rs2778037 SFXN2 AU NM_178858 exon9 c.6272+42G>C 0.747204 0.7341 0.750192 0.7613 0.7187 Uncertain 10_104493444_C->T 10 104493444 104493444 C T snp 1767.77 0/1 99 167 85 82 0.49 intronic rs11191381 SFXN2 AU NM_178858 exon10 c.6967+84C>T 0.139577 0.129 Uncertain 10_104536360_G->A 10 104536360 104536360 G A snp 107.77 0/1 99 11 7 4 0.36 intronic rs4147157 WBP1L AU NM_017787 exon1 c.27+186G>A 0.195288 0.4573 Uncertain 10_104536365_C->G 10 104536365 104536365 C G snp 149.77 0/1 99 9 4 5 0.56 intronic rs2254563 WBP1L AU NM_017787 exon1 c.27+191C>G 0.387181 0.2083 Uncertain 10_104572276_A->G 10 104572276 104572276 A G snp 888.77 0/1 99 92 56 36 0.39 intronic rs284861 WBP1L AU NM_017787 exon4 c.36204-75A>G 0.72484 0.5794 Uncertain 10_104572963_T->C 10 104572963 104572963 T C snp 1643.77 0/1 99 125 59 66 0.53 exonic rs284860 WBP1L AU nonsynonymous SNV NM_001083913 exon4 c.T967C p.S323P 0.543331 0.3988 0.572813 0.5839 0.4209 0.41 T 0.004 P -0.961 T 0.0 T 0.001 T Pathogenic 10_104591393_G->T 10 104591393 104591393 G T snp 1227.77 0/1 99 120 67 53 0.44 intronic rs17115100 CYP17A1 AR NM_000102 exon2 c.910+25G>T 0.179712 0.3472 0.084730 0.1426 0.3427 Uncertain 10_104592675_G->C 10 104592675 104592675 G C snp 65.77 0/1 94 7 4 3 0.43 intronic rs3740397 CYP17A1 AR NM_000102 exon4 c.2291-74G>C 0.35024 0.5109 Uncertain 10_104594507_A->G 10 104594507 104594507 A G snp 926.77 0/1 99 56 19 37 0.66 intronic rs1004467 CYP17A1 AR NM_000102 exon6 c.4083-34A>G 0.21905 0.3472 0.124942 0.1541 0.3448 Uncertain 10_104596924_C->A 10 104596924 104596924 C A snp 781.77 0/1 99 80 45 35 0.44 exonic rs6163 CYP17A1 AR synonymous SNV NM_000102 exon1 c.G195T p.S65S 0.410343 0.5873 0.383285 0.3974 0.5648 Uncertain 10_104596981_G->A 10 104596981 104596981 G A snp 1258.77 0/1 99 133 76 57 0.43 exonic rs6162 CYP17A1 AR synonymous SNV NM_000102 exon1 c.C138T p.H46H 0.442492 0.5913 0.394895 0.4248 0.5658 Uncertain 10_104597152_A->G 10 104597152 104597152 A G snp 1195.77 0/1 99 110 57 53 0.48 UTR5 rs743572 CYP17A1 AR 0.410543 0.5873 0.382344 0.4001 0.5658 ID=CR942079;DIS=Polycystic ovaries, association with;TAG=DP;PUB=7849715 DP Uncertain 10_104629465_T->G 10 104629465 104629465 T G snp 912.77 0/1 99 95 56 39 0.41 ncRNA_intronic rs3740400 C10orf32-ASMT AU 0.427316 0.5942 Uncertain 10_104629793_-->CTC 10 104629793 104629793 - CTC indel 513.73 0/1 99 35 23 12 0.34 ncRNA_intronic rs3832685 C10orf32-ASMT AU 0.427316 0.5942 0.361815 0.3931 0.5651 Uncertain 10_104633053_-->TTT 10 104633053 104633053 - TTT indel 388.73 0/1 99 19 6 13 0.68 ncRNA_intronic rs17879781 C10orf32-ASMT AU 0.252995 0.4474 Uncertain 10_104636655_G->C 10 104636655 104636655 G C snp 1215.77 0/1 99 104 59 45 0.43 ncRNA_intronic rs3740393 C10orf32-ASMT AU 0.210264 0.2867 0.158125 Uncertain 10_104638480_C->T 10 104638480 104638480 C T snp 760.77 0/1 99 62 30 32 0.52 ncRNA_intronic rs3740390 C10orf32-ASMT AU 0.157149 0.2867 Uncertain 10_104660256_G->A 10 104660256 104660256 G A snp 174.77 0/1 99 16 10 6 0.38 ncRNA_intronic rs10748835 C10orf32-ASMT AU 0.441294 0.5843 Uncertain 10_104679978_C->T 10 104679978 104679978 C T snp 261.77 0/1 99 16 8 8 0.5 intronic rs2297786 CNNM2 AR,AD NM_199077 exon1 c.1621+120C>T 0.441294 0.5843 Uncertain 10_104814162_T->C 10 104814162 104814162 T C snp 1721.77 0/1 99 151 78 73 0.48 exonic rs2275271 CNNM2 AR,AD synonymous SNV NM_017649 exon3 c.T1842C p.S614S 0.432508 0.5863 0.390210 0.4199 0.5645 Uncertain 10_104835919_C->T 10 104835919 104835919 C T snp 2173.77 0/1 99 200 107 93 0.47 exonic rs943037 CNNM2 AR,AD synonymous SNV NM_017649 exon7 c.C2310T p.A770A 0.151757 0.2877 0.070408 0.1585 0.3226 Uncertain 10_104836047_T->C 10 104836047 104836047 T C snp 384.77 0/1 99 37 22 15 0.41 intronic rs943036 CNNM2 AR,AD NM_199076 exon6 c.157790+20T>C 0.417732 0.5129 0.391242 0.4219 0.5264 Uncertain 10_104849468_G->A 10 104849468 104849468 G A snp 220.77 0/1 99 46 35 11 0.24 exonic rs3740387 NT5C2 AR synonymous SNV NM_012229 exon19 c.C1647T p.D549D 0.422125 0.499 0.396817 0.4171 0.4703 Uncertain 10_104850632_G->A 10 104850632 104850632 G A snp 1645.77 0/1 99 171 101 70 0.41 intronic rs3736922 NT5C2 AR NM_012229 exon3 c.1264-60G>A 0.453474 0.5853 0.426194 Uncertain 10_104850835_A->G 10 104850835 104850835 A G snp 955.77 0/1 99 51 21 30 0.59 intronic rs11191551 NT5C2 AR NM_012229 exon3 c.1325+82A>G 0.156749 0.2887 Uncertain 10_104851301_G->T 10 104851301 104851301 G T snp 247.77 0/1 99 35 23 12 0.34 intronic rs17094683 NT5C2 AR NM_012229 exon4 c.1892-19G>T 0.15655 0.2887 0.077053 0.1268 0.2742 Uncertain 10_104855656_T->C 10 104855656 104855656 T C snp 1531.77 0/1 99 124 58 66 0.53 intronic rs1926030 NT5C2 AR NM_012229 exon8 c.6267-39T>C 0.443291 0.5853 0.398662 0.4248 0.5597 Uncertain 10_104860395_T->G 10 104860395 104860395 T G snp 1075.77 1/1 78 36 0 36 1.0 intronic rs2863727 NT5C2 AR NM_012229 exon12 c.11373-406T>G 0.928714 1 0.9881 1 Uncertain 10_104865075_T->C 10 104865075 104865075 T C snp 108.77 0/1 99 25 17 8 0.32 intronic rs76047346 NT5C2 AR NM_012229 exon14 c.16034-387T>C 0.0201677 0.0942 0.0041 0.0969 Uncertain 10_105039579_A->G 10 105039579 105039579 A G snp 380.77 0/1 99 27 12 15 0.56 intronic rs1163086 INA AU NM_032727 exon1 c.1065+1546A>G 0.390575 0.4256 Uncertain 10_105046689_G->C 10 105046689 105046689 G C snp 45.77 0/1 74 7 3 4 0.57 intronic rs3740381 INA AU NM_032727 exon2 c.9823-102G>C 0.304313 0.3571 Uncertain 10_105108455_T->C 10 105108455 105108455 T C snp 102.77 0/1 99 7 3 4 0.57 intronic rs4917387 PCGF6 AU NM_032154 exon5 c.44811-17T>C 0.432109 0.4365 0.385397 0.4861 0.4475 Uncertain 10_105110740_-->GGAGGC 10 105110740 105110740 - GGAGGC indel 2851.73 0/1 99 58 18 40 0.69 exonic rs113359610 PCGF6 AU nonframeshift insertion NM_001011663 exon1 c.83_84insGCCTCC p.P28delinsPPP 0.446486 0.4325 0.313350 0.5317 0.4790 ID=COSM1560994,COSM1560993;OCCURENCE=1(large_intestine) Uncertain 10_105127708_G->A 10 105127708 105127708 G A snp 234.77 0/1 99 12 4 8 0.67 upstream rs10883858 TAF5 AU 0.428714 0.4365 0.282649 0.5308 0.4158 Uncertain 10_105128134_T->G 10 105128134 105128134 T G snp 1625.77 0/1 99 154 85 69 0.45 exonic rs10883859 TAF5 AU nonsynonymous SNV NM_006951 exon1 c.T388G p.S130A 0.310104 0.4206 0.253215 0.3516 0.4610 0.73 T 0.010 P -0.920 T 0.0 T 0.001 T Pathogenic 10_105133461_A->T 10 105133461 105133461 A T snp 111.77 0/1 60 6 2 4 0.67 intronic rs11191670 TAF5 AU NM_006951 exon2 c.5606+109A>T 0.0195687 0.0913 Uncertain 10_105144986_A->G 10 105144986 105144986 A G snp 299.78 1/1 24 10 0 10 1.0 intronic rs7069667 TAF5 AU NM_006951 exon8 c.17336-96A>G 0.951877 1 Uncertain 10_105154089_A->G 10 105154089 105154089 A G snp 2498.77 0/1 99 190 83 107 0.56 ncRNA_exonic rs7911488 MIR1307 AU 0.303714 0.3433 0.255146 0.3384 0.3414 Uncertain 10_105165615_G->A 10 105165615 105165615 G A snp 1629.77 1/1 99 53 0 53 1.0 intronic rs7919031 PDCD11 AU NM_014976 exon6 c.7558-126G>A 0.952077 1 Uncertain 10_105169702_T->C 10 105169702 105169702 T C snp 397.77 0/1 99 22 9 13 0.59 intronic PDCD11 AU NM_014976 exon8 c.11380+139T>C Uncertain 10_105176179_T->C 10 105176179 105176179 T C snp 998.77 0/1 99 75 35 40 0.53 intronic rs7894407 PDCD11 AU NM_014976 exon13 c.18064-68T>C 0.307508 0.4206 Uncertain 10_105179214_C->T 10 105179214 105179214 C T snp 347.77 0/1 99 23 10 13 0.57 intronic rs3740382 PDCD11 AU NM_014976 exon16 c.21111-80C>T 0.348442 0.3532 Uncertain 10_105194086_C->T 10 105194086 105194086 C T snp 1690.77 0/1 99 144 75 69 0.48 exonic rs2986014 PDCD11 AU nonsynonymous SNV NM_014976 exon24 c.C3646T p.L1216F 0.478435 0.4236 0.412886 0.4291 0.4138 0.71 T 0.000 P -0.926 T 0.0 T 0.0 T Pathogenic 10_105201565_G->A 10 105201565 105201565 G A snp 397.77 0/1 99 36 21 15 0.42 intronic rs2281861 PDCD11 AU NM_014976 exon31 c.43399-17G>A 0.410144 0.3532 0.376749 0.3895 0.3424 Uncertain 10_105201577_C->T 10 105201577 105201577 C T snp 661.77 0/1 99 50 25 25 0.5 splicing rs2281860 PDCD11 AU NM_014976 exon31 c.43399-5C>T 0.423123 0.3552 0.393049 0.4018 0.3426 Pathogenic 10_105202318_T->G 10 105202318 105202318 T G snp 156.77 0/1 99 8 3 5 0.63 intronic rs1536225 PDCD11 AU NM_014976 exon32 c.44034+101T>G 0.305711 0.3175 Uncertain 10_105204454_T->C 10 105204454 105204454 T C snp 328.77 0/1 99 37 18 19 0.51 intronic rs942900 PDCD11 AU NM_014976 exon35 c.46256+15T>C 0.428115 0.3581 0.359834 0.4015 0.3470 Uncertain 10_105205302_A->C 10 105205302 105205302 A C snp 929.77 0/1 99 48 15 33 0.69 exonic rs7831 PDCD11 AU nonsynonymous SNV NM_014976 exon36 c.A5612C p.D1871A 0.375599 0.3185 0.344687 0.3787 0.3139 0 D 0.072 P -0.902 T 0.243 T 0.079 T Pathogenic 10_105206874_T->C 10 105206874 105206874 T C snp 742.77 0/1 99 72 40 32 0.44 UTR3 rs6580 CALHM2 AU 0.352436 0.3591 0.319622 0.3792 0.3467 Uncertain 10_105214932_T->C 10 105214932 105214932 T C snp 809.77 0/1 99 80 46 34 0.42 UTR3 rs729211 CALHM1 AU 0.363618 0.4137 Uncertain 10_105215016_A->G 10 105215016 105215016 A G snp 2897.77 1/1 99 93 0 93 1.0 UTR3 rs2986016 CALHM1 AU 0.880192 0.8849 0.809894 0.8173 0.8954 Uncertain 10_105218252_A->G 10 105218252 105218252 A G snp 7415.77 1/1 99 247 2 245 0.99 exonic rs2986017 CALHM1 AU nonsynonymous SNV NM_001001412 exon1 c.T257C p.L86P 0.872005 0.8849 0.796368 0.7882 0.8862 0.4 T 0.0 P -1.055 T 0.0 T 0.0 T Pathogenic 10_105218254_C->T 10 105218254 105218254 C T snp 3526.77 0/1 99 250 112 138 0.55 exonic rs4918016 CALHM1 AU synonymous SNV NM_001001412 exon1 c.G255A p.P85P 0.303714 0.4137 0.282910 0.3302 0.4468 Uncertain 10_105218359_T->C 10 105218359 105218359 T C snp 7530.77 1/1 99 250 0 250 1.0 exonic rs2986018 CALHM1 AU synonymous SNV NM_001001412 exon1 c.A150G p.A50A 0.884784 0.8849 0.818315 0.8109 0.8876 Uncertain 10_105233110_C->T 10 105233110 105233110 C T snp 6178.77 1/1 99 227 0 227 1.0 exonic rs2986035 CALHM3 AU nonsynonymous SNV NM_001129742 exon3 c.G895A p.D299N 0.740216 0.7728 0.7652 0.7889 1 T 0.889 P -1.005 T 0.001 T 0.005 T Pathogenic 10_105254090_G->T 10 105254090 105254090 G T snp 1937.77 1/1 99 74 0 74 1.0 ncRNA_intronic rs2986041 NEURL1-AS1 AU 0.86222 0.999 0.781882 Uncertain 10_105344756_T->C 10 105344756 105344756 T C snp 4432.77 1/1 99 162 0 162 1.0 exonic rs2236209 NEURL1 AU synonymous SNV NM_004210 exon4 c.T1113C p.P371P 0.529153 0.6478 0.456879 0.6205 0.6855 Uncertain 10_105349161_G->A 10 105349161 105349161 G A snp 1994.77 1/1 99 70 0 70 1.0 intronic rs2236210 NEURL1 AU NM_004210 exon5 c.95126-109G>A 0.127396 0.2738 Uncertain 10_105361816_T->G 10 105361816 105361816 T G snp 4695.77 1/1 99 173 0 173 1.0 exonic rs4918031 SH3PXD2A AU synonymous SNV NM_014631 exon14 c.A3075C p.I1025I 0.879992 0.999 0.801476 0.8214 0.9992 1.0 P -1.012 T Likely benign 10_105362209_T->C 10 105362209 105362209 T C snp 7703.77 1/1 99 250 0 250 1.0 exonic rs4917396 SH3PXD2A AU synonymous SNV NM_014631 exon14 c.A2682G p.K894K 0.91254 0.999 0.834077 0.8390 0.9994 1.0 P -1.008 T Likely benign 10_105365386_A->G 10 105365386 105365386 A G snp 396.77 1/1 30 12 0 12 1.0 intronic rs7088714 SH3PXD2A AU NM_014631 exon2 c.3982-168A>G 0.879193 0.999 Uncertain 10_105373110_A->G 10 105373110 105373110 A G snp 54.74 1/1 6 2 0 2 1.0 intronic rs1884932 SH3PXD2A AU NM_014631 exon4 c.11375+163A>G 0.9377 1 Uncertain 10_105428454_AG->- 10 105428454 105428455 AG - indel 8358.73 1/1 99 227 0 227 1.0 intronic rs10533306 SH3PXD2A AU NM_014631 exon8 c.66838+44_66838+45delAG 0.928914 0.999 0.889025 0.8982 0.9989 Uncertain 10_105483964_A->G 10 105483964 105483964 A G snp 370.77 0/1 99 38 22 16 0.42 intronic rs12220667 SH3PXD2A AU NM_014631 exon10 c.122455-63A>G 0.270767 0.3046 Uncertain 10_105495612_T->C 10 105495612 105495612 T C snp 612.77 0/1 99 56 27 29 0.52 intronic rs6584568 SH3PXD2A AU NM_014631 exon11 c.133994+46T>C 0.38778 0.3065 0.432416 0.3494 0.2981 Uncertain 10_105614884_A->G 10 105614884 105614884 A G snp 2284.77 1/1 99 69 0 69 1.0 intronic rs4918064 SH3PXD2A AU NM_014631 exon14 c.253380-68A>G 0.996406 1 Uncertain 10_105615074_C->T 10 105615074 105615074 C T snp 6425.77 1/1 99 236 0 236 1.0 UTR5 rs10883928 SH3PXD2A AU 0.366214 0.6419 0.234572 0.4032 0.638 Uncertain 10_105615105_G->C 10 105615105 105615105 G C snp 5500.77 1/1 99 198 0 198 1.0 UTR5 rs10883929 SH3PXD2A AU 0.997804 1 Uncertain 10_105615234_A->G 10 105615234 105615234 A G snp 174.9 1/1 15 5 0 5 1.0 upstream rs11191830 SH3PXD2A AU 0.996206 1 Uncertain 10_105657316_G->C 10 105657316 105657316 G C snp 1253.77 1/1 90 41 0 41 1.0 exonic rs10786775 OBFC1 AU nonsynonymous SNV NM_024928 exon7 c.C743G p.S248C 0.873003 1 0.822851 0.9071 1 0.27 T 0.0 P -1.027 T 0.0 T 0.0 T Pathogenic 10_105659826_T->C 10 105659826 105659826 T C snp 2363.77 1/1 99 84 0 84 1.0 exonic rs2487999 OBFC1 AU nonsynonymous SNV NM_024928 exon5 c.A451G p.T151A 0.873602 1 0.822774 0.9072 1 0.53 T 0.0 P -0.971 T 0.0 T 0.001 T Pathogenic 10_105727657_AG->- 10 105727657 105727658 AG - indel 2980.73 1/1 99 64 0 64 1.0 splicing rs556730037 SLK AU NM_001304743 exon1 c.150+4_150+5delAG 0.476438 0.7063 0.462300 0.5305 0.7323 Pathogenic 10_105761793_G->A 10 105761793 105761793 G A snp 86.28 1/1 9 3 0 3 1.0 intronic rs805656 SLK AU NM_001304743 exon9 c.34426-136G>A 0.967652 0.999 Uncertain 10_105768159_A->T 10 105768159 105768159 A T snp 250.77 0/1 99 17 8 9 0.53 intronic rs186432670 SLK AU NM_001304743 exon12 c.40611+45A>T 0.0119808 0.0565 0.0046 0.0695 Uncertain 10_105768160_A->T 10 105768160 105768160 A T snp 212.77 0/1 99 17 8 9 0.53 intronic rs757774199 SLK AU NM_001304743 exon12 c.40611+46A>T 1.183e-05 0.0002 Uncertain 10_105781532_C->T 10 105781532 105781532 C T snp 2945.77 1/1 99 116 0 116 1.0 intronic rs10883961 SLK AU NM_001304743 exon17 c.53988+41C>T 0.471046 0.7103 0.441018 0.5348 0.7476 Uncertain 10_105781711_A->G 10 105781711 105781711 A G snp 99.28 1/1 9 3 0 3 1.0 intronic rs4918077 SLK AU NM_001304743 exon17 c.53988+220A>G 0.480431 0.7123 Uncertain 10_105792205_A->C 10 105792205 105792205 A C snp 2260.77 1/1 99 70 0 70 1.0 intronic rs813943 COL17A1 AR,AD NM_000494 exon1 c.56+157A>C 0.773762 0.869 Uncertain 10_105793173_T->G 10 105793173 105793173 T G snp 757.77 1/1 57 20 0 20 1.0 intronic rs1747675 COL17A1 AR,AD NM_000494 exon4 c.1141+40T>G 0.984425 1 0.984848 0.9957 1 Uncertain 10_105796399_G->C 10 105796399 105796399 G C snp 1609.77 1/1 99 54 0 54 1.0 intronic rs2274098 COL17A1 AR,AD NM_000494 exon9 c.4398+9G>C 0.691494 0.8204 0.722897 0.7804 0.8563 Uncertain 10_105796449_A->G 10 105796449 105796449 A G snp 652.77 1/1 51 18 0 18 1.0 intronic rs2476957 COL17A1 AR,AD NM_000494 exon9 c.4398+59A>G 0.985823 1 Uncertain 10_105796738_A->C 10 105796738 105796738 A C snp 430.77 1/1 33 13 0 13 1.0 intronic rs805714 COL17A1 AR,AD NM_000494 exon10 c.4810-64A>C 0.986022 1 0.985764 Uncertain 10_105796819_A->G 10 105796819 105796819 A G snp 1031.77 1/1 75 36 0 36 1.0 exonic rs2476958 COL17A1 AR,AD synonymous SNV NM_000494 exon47 c.T3261C p.I1087I 0.986022 1 0.986235 0.9964 1 Uncertain 10_105797378_G->A 10 105797378 105797378 G A snp 1398.77 1/1 99 45 0 45 1.0 intronic rs2282437 COL17A1 AR,AD NM_000494 exon11 c.5401-15G>A 0.682907 0.8194 0.716362 0.7781 0.8583 Uncertain 10_105797694_A->- 10 105797694 105797694 A - indel 165.87 1/1 15 5 0 5 1.0 intronic rs398014690 COL17A1 AR,AD NM_000494 exon11 c.5539+163delA 0.986022 1 Uncertain 10_105797990_ACACACACACACACACACAC->- 10 105797990 105798009 ACACACACACACACACACAC - indel 3472.73 ./1 99 21 0 21 1.0 intronic rs200030951 COL17A1 AR,AD NM_000494 exon12 c.6171-173_6171-154delACACACACACACACACACAC Uncertain 10_105797990_ACACACACACACACACAC->- 10 105797990 105798007 ACACACACACACACACAC - indel 3472.73 ./1 99 21 0 21 1.0 intronic rs752100437 COL17A1 AR,AD NM_000494 exon12 c.6171-173_6171-156delACACACACACACACACAC Uncertain 10_105798872_T->C 10 105798872 105798872 T C snp 1717.77 1/1 99 61 0 61 1.0 exonic rs2274100 COL17A1 AR,AD synonymous SNV NM_000494 exon44 c.A2904G p.P968P 0.68151 0.7708 0.722513 0.7768 0.8055 Uncertain 10_105799216_G->T 10 105799216 105799216 G T snp 1137.77 1/1 84 42 1 41 0.98 exonic rs2296219 COL17A1 AR,AD synonymous SNV NM_000494 exon43 c.C2883A p.P961P 0.683506 0.8224 0.715131 0.7769 0.8593 Uncertain 10_105799553_CG->- 10 105799553 105799554 CG - indel 1491.73 1/1 99 36 0 36 1.0 intronic rs55804228 COL17A1 AR,AD NM_000494 exon15 c.7406+155_7406+156delCG Uncertain 10_105799599_C->A 10 105799599 105799599 C A snp 2069.77 1/1 99 65 1 64 0.98 intronic rs11191905 COL17A1 AR,AD NM_000494 exon16 c.7738-131C>A 0.685903 0.8234 Uncertain 10_105800321_C->T 10 105800321 105800321 C T snp 1207.77 1/1 96 49 0 49 1.0 intronic rs12763538 COL17A1 AR,AD NM_000494 exon17 c.8176+153C>T 0.692891 0.8254 Uncertain 10_105800349_TGGATGGATAGG->- 10 105800349 105800360 TGGATGGATAGG - indel 2437.73 1/1 57 25 0 25 1.0 intronic rs139480552 COL17A1 AR,AD NM_000494 exon17 c.8176+181_8176+192delTGGATGGATAGG Uncertain 10_105801253_G->A 10 105801253 105801253 G A snp 2743.77 1/1 99 99 0 99 1.0 exonic rs4918079 COL17A1 AR,AD synonymous SNV NM_000494 exon37 c.C2595T p.R865R 0.673922 0.7589 0.718130 0.7725 0.7881 ID=CM144867;DIS=Ossification of posterior longitudinal ligament, association with;TAG=DP;PUB=24668667 DP Uncertain 10_105803080_A->G 10 105803080 105803080 A G snp 438.77 1/1 33 12 0 12 1.0 intronic rs2147269 COL17A1 AR,AD NM_000494 exon22 c.11266-178A>G 0.762181 0.9206 Uncertain 10_105805310_G->A 10 105805310 105805310 G A snp 126.03 1/1 12 4 0 4 1.0 intronic rs805719 COL17A1 AR,AD NM_000494 exon24 c.13523-205G>A 0.685903 0.8105 Uncertain 10_105805436_G->A 10 105805436 105805436 G A snp 1146.77 1/1 81 46 0 46 1.0 intronic rs805720 COL17A1 AR,AD NM_000494 exon24 c.13523-79G>A 0.986022 1 0.984888 Uncertain 10_105805497_C->T 10 105805497 105805497 C T snp 1845.77 1/1 99 70 0 70 1.0 intronic rs813944 COL17A1 AR,AD NM_000494 exon24 c.13523-18C>T 0.436102 0.6528 0.432416 0.4945 0.6756 Uncertain 10_105806310_C->A 10 105806310 105806310 C A snp 964.77 1/1 72 29 0 29 1.0 intronic rs805721 COL17A1 AR,AD NM_000494 exon25 c.14512-194C>A 0.718251 0.6478 Uncertain 10_105810400_T->C 10 105810400 105810400 T C snp 1210.77 1/1 87 43 0 43 1.0 exonic rs805722 COL17A1 AR,AD nonsynonymous SNV NM_000494 exon27 c.A2107G p.M703V 0.69369 0.7659 0.719053 0.7803 0.7900 0.3 T 0.909 P -0.959 T 0.0 T 0.001 T Pathogenic 10_105810879_C->A 10 105810879 105810879 C A snp 627.77 1/1 48 21 0 21 1.0 intronic rs805723 COL17A1 AR,AD NM_000494 exon31 c.18667+220C>A 0.603634 0.6875 Uncertain 10_105814826_C->A 10 105814826 105814826 C A snp 3349.77 1/1 99 131 0 131 1.0 intronic rs805691 COL17A1 AR,AD NM_000494 exon37 c.22773+61C>A 0.552915 0.6885 0.586728 Uncertain 10_105814937_C->T 10 105814937 105814937 C T snp 2029.77 1/1 99 62 1 61 0.98 intronic rs805692 COL17A1 AR,AD NM_000494 exon37 c.22773+172C>T 0.588458 0.6885 Uncertain 10_105815202_-->CTCACACA 10 105815202 105815202 - CTCACACA indel 3927.73 1/1 99 72 0 72 1.0 intronic rs372506043 COL17A1 AR,AD NM_000494 exon38 c.23167+43insCTCACACA Uncertain 10_105815241_A->C 10 105815241 105815241 A C snp 710.77 1/1 54 18 0 18 1.0 intronic rs1747677 COL17A1 AR,AD NM_000494 exon38 c.23167+82A>C 0.632588 0.6944 0.589794 Uncertain 10_105815454_G->A 10 105815454 105815454 G A snp 343.78 1/1 27 10 0 10 1.0 intronic rs805694 COL17A1 AR,AD NM_000494 exon39 c.23547-85G>A 0.705871 0.7609 Uncertain 10_105816685_T->C 10 105816685 105816685 T C snp 41.74 1/1 6 2 0 2 1.0 intronic rs805696 COL17A1 AR,AD NM_000494 exon40 c.24740-47T>C 0.897165 0.8839 0.945781 0.9545 0.8741 Uncertain 10_105816916_C->T 10 105816916 105816916 C T snp 1224.77 1/1 87 44 0 44 1.0 exonic rs805698 COL17A1 AR,AD nonsynonymous SNV NM_000494 exon17 c.G1282A p.G428S 0.81849 0.8829 0.848869 0.9357 0.8875 0.25 T 0.000 P -0.943 T 0.001 T 0.001 T ID=CM144866;DIS=Ossification of posterior longitudinal ligament, association with;TAG=DP;PUB=24668667 DP Pathogenic 10_105817043_C->T 10 105817043 105817043 C T snp 259.8 1/1 21 9 0 9 1.0 intronic rs805699 COL17A1 AR,AD NM_000494 exon40 c.24938+113C>T 0.887181 0.8839 Uncertain 10_105819956_G->A 10 105819956 105819956 G A snp 3121.77 1/1 99 121 1 120 0.99 exonic rs805701 COL17A1 AR,AD synonymous SNV NM_000494 exon14 c.C1062T p.A354A 0.552516 0.6875 0.555205 0.6473 0.6937 Uncertain 10_105821136_A->T 10 105821136 105821136 A T snp 1824.77 1/1 99 67 0 67 1.0 intronic rs805704 COL17A1 AR,AD NM_000494 exon44 c.29170-26A>T 0.83726 0.88 0.916423 0.9415 0.8872 Uncertain 10_105821294_A->G 10 105821294 105821294 A G snp 965.77 1/1 69 32 0 32 1.0 intronic rs805705 COL17A1 AR,AD NM_000494 exon44 c.29239+63A>G 0.838059 0.8839 0.881297 Uncertain 10_105821836_C->T 10 105821836 105821836 C T snp 1387.77 1/1 99 42 1 41 0.98 intronic rs805706 COL17A1 AR,AD NM_000494 exon45 c.30023-179C>T 0.837859 0.8829 Uncertain 10_105824333_G->A 10 105824333 105824333 G A snp 2350.77 1/1 99 85 0 85 1.0 exonic rs805708 COL17A1 AR,AD nonsynonymous SNV NM_000494 exon10 c.C629T p.T210M 0.564896 0.6746 0.585115 0.6739 0.6933 0.12 T 0.660 P -0.910 T 1.0 D 0.947 D Pathogenic 10_105837000_A->G 10 105837000 105837000 A G snp 732.77 1/1 54 21 0 21 1.0 intronic rs2274106 COL17A1 AR,AD NM_000494 exon53 c.45187-179A>G 0.886581 0.8849 Uncertain 10_105945842_C->T 10 105945842 105945842 C T snp 1592.77 0/1 99 207 130 77 0.37 exonic rs17116635 CFAP43 AU nonsynonymous SNV NM_025145 exon15 c.G1900A p.V634I 0.0191693 0.0823 0.000538 0.0101 0.0786 1 N -1.008 T 0.009 T 0.006 T Pathogenic 10_105991884_T->G 10 105991884 105991884 T G snp 2239.77 1/1 99 83 0 83 1.0 intronic rs789577 CFAP43 AU NM_025145 exon38 c.102043-55T>G 0.998602 1 0.992627 Uncertain 10_106014467_G->A 10 106014467 106014467 G A snp 428.77 1/1 33 13 0 13 1.0 upstream rs628480 GSTO1 AU 0.973842 0.9782 Uncertain 10_106014662_G->A 10 106014662 106014662 G A snp 1664.77 0/1 99 145 74 71 0.49 UTR5 rs189007036 GSTO1 AU 0.00259585 0.0129 0.000077 0.0016 0.0220 Uncertain 10_106058778_T->C 10 106058778 106058778 T C snp 41.74 1/1 6 2 0 2 1.0 intronic rs157079 GSTO2 AU NM_001191013 exon6 c.24212-107T>C 0.990415 1 Uncertain 10_106582029_C->T 10 106582029 106582029 C T snp 37.77 0/1 66 6 4 2 0.33 intronic rs1490182 SORCS3 AU NM_014978 exon2 c.201464-20520C>T 0.852436 0.8343 Uncertain 10_106602362_G->C 10 106602362 106602362 G C snp 37.77 0/1 66 6 4 2 0.33 intronic rs10884052 SORCS3 AU NM_014978 exon2 c.201464-187G>C 0.386382 0.6915 Uncertain 10_106602496_-->T 10 106602496 106602496 - T indel 3702.73 1/1 99 113 2 111 0.98 intronic rs397730823 SORCS3 AU NM_014978 exon2 c.201464-53insT 0.652356 0.8274 0.600479 Uncertain 10_106675415_C->A 10 106675415 106675415 C A snp 117.77 0/1 99 7 3 4 0.57 intronic rs7089135 SORCS3 AU NM_014978 exon3 c.274505-175C>A 0.0810703 0.1538 Uncertain 10_106675585_C->T 10 106675585 106675585 C T snp 1734.77 0/1 99 170 95 75 0.44 splicing rs6584635 SORCS3 AU NM_014978 exon3 c.274505-5C>T 0.310304 0.1538 0.345533 0.2514 0.1303 Pathogenic 10_106849659_C->G 10 106849659 106849659 C G snp 303.77 0/1 99 17 5 12 0.71 intronic rs1574402 SORCS3 AU NM_014978 exon6 c.448512+62C>G 0.0742812 0.1865 0.023434 Uncertain 10_106907320_A->G 10 106907320 106907320 A G snp 303.77 0/1 99 17 6 11 0.65 intronic rs791124 SORCS3 AU NM_014978 exon9 c.506289-54A>G 0.489018 0.3492 Uncertain 10_106907440_C->T 10 106907440 106907440 C T snp 1116.77 0/1 99 97 50 47 0.48 exonic rs791125 SORCS3 AU synonymous SNV NM_014978 exon9 c.C1368T p.N456N 0.489018 0.3492 0.525219 0.5310 0.3301 Uncertain 10_106907586_C->G 10 106907586 106907586 C G snp 719.77 0/1 99 70 42 28 0.4 intronic rs791126 SORCS3 AU NM_014978 exon9 c.506469+32C>G 0.489018 0.3492 0.525531 0.5376 0.3361 Uncertain 10_108371571_-->GTTT 10 108371571 108371571 - GTTT indel 2715.73 1/1 99 43 0 43 1.0 intronic rs137930414 SORCS1 AU NM_052918 exon5 c.34491-97insGTTT 0.822684 0.8264 Uncertain 10_108380213_G->A 10 108380213 108380213 G A snp 3096.77 0/1 99 249 125 124 0.5 exonic rs4917481 SORCS1 AU synonymous SNV NM_001013031 exon20 c.C2769T p.Y923Y 0.375998 0.5069 0.256266 0.2486 0.5482 Uncertain 10_108389111_A->G 10 108389111 108389111 A G snp 1035.77 0/1 99 114 71 43 0.38 exonic rs3802553 SORCS1 AU synonymous SNV NM_001013031 exon19 c.T2511C p.F837F 0.232029 0.3383 0.136706 0.1357 0.3255 Uncertain 10_108389218_C->T 10 108389218 108389218 C T snp 199.77 0/1 99 24 17 7 0.29 intronic rs8181286 SORCS1 AU NM_052918 exon8 c.51969+72C>T 0.230831 0.3383 Uncertain 10_108389249_T->C 10 108389249 108389249 T C snp 216.84 1/1 18 6 0 6 1.0 intronic rs1322004 SORCS1 AU NM_052918 exon8 c.51969+103T>C 0.965455 1 Uncertain 10_108427594_A->T 10 108427594 108427594 A T snp 895.77 0/1 99 69 28 41 0.59 intronic rs17121157 SORCS1 AU NM_052918 exon10 c.90383+34A>T 0.204872 0.3145 0.114793 0.1578 0.3292 Uncertain 10_108427624_A->G 10 108427624 108427624 A G snp 588.77 0/1 99 53 24 29 0.55 intronic rs12412558 SORCS1 AU NM_052918 exon10 c.90383+64A>G 0.28135 0.3145 Uncertain 10_108427644_C->T 10 108427644 108427644 C T snp 590.77 0/1 99 41 15 26 0.63 intronic rs12415278 SORCS1 AU NM_052918 exon10 c.90383+84C>T 0.277756 0.3145 Uncertain 10_108427683_A->- 10 108427683 108427683 A - indel 85.9 1/1 14 10 0 10 1.0 intronic rs398014732 SORCS1 AU NM_052918 exon10 c.90383+123delA 0.857628 0.8264 Uncertain 10_108432828_C->T 10 108432828 108432828 C T snp 276.77 0/1 99 27 17 10 0.37 intronic rs11193010 SORCS1 AU NM_052918 exon12 c.95566+85C>T 0.295527 0.2262 Uncertain 10_108439103_A->C 10 108439103 108439103 A C snp 3159.77 1/1 99 112 0 112 1.0 intronic rs821929 SORCS1 AU NM_052918 exon15 c.101913+13A>C 0.775359 0.6498 0.867215 0.8698 0.6428 Uncertain 10_108447836_C->T 10 108447836 108447836 C T snp 1831.77 1/1 99 58 0 58 1.0 intronic rs821935 SORCS1 AU NM_052918 exon17 c.110772-113C>T 0.722444 0.7361 Uncertain 10_108448200_C->T 10 108448200 108448200 C T snp 254.8 1/1 21 7 0 7 1.0 intronic rs1252035 SORCS1 AU NM_052918 exon17 c.110919+104C>T 0.875998 0.8492 Uncertain 10_108466412_C->T 10 108466412 108466412 C T snp 3641.77 1/1 99 132 0 132 1.0 intronic rs2756231 SORCS1 AU NM_052918 exon19 c.129215+20C>T 0.94369 0.88 0.978164 0.9786 0.8478 Uncertain 10_108469161_C->G 10 108469161 108469161 C G snp 2408.77 1/1 99 77 0 77 1.0 intronic rs2756232 SORCS1 AU NM_052918 exon20 c.131922+62C>G 0.736422 0.7391 Uncertain 10_108521566_A->G 10 108521566 108521566 A G snp 37.77 0/1 66 6 4 2 0.33 intronic rs1890457 SORCS1 AU NM_052918 exon22 c.184242+147A>G 0.479832 0.5357 Uncertain 10_108536551_G->T 10 108536551 108536551 G T snp 147.78 0/1 24 6 1 5 0.83 intronic rs11599692 SORCS1 AU NM_052918 exon23 c.199273+101G>T 0.186102 0.2371 Uncertain 10_108716473_A->G 10 108716473 108716473 A G snp 546.77 1/1 42 15 0 15 1.0 intronic rs822090 SORCS1 AU NM_052918 exon25 c.379161+135A>G 0.987819 1 Uncertain 10_111625108_T->C 10 111625108 111625108 T C snp 692.77 1/1 51 20 0 20 1.0 intronic rs483072 XPNPEP1 AU NM_001167604 exon1 c.129+38T>C 0.994209 1 0.993465 0.9982 1 Uncertain 10_111631665_C->G 10 111631665 111631665 C G snp 1182.77 0/1 99 86 44 42 0.49 intronic rs2274978 XPNPEP1 AU NM_001167604 exon5 c.6678+46C>G 0.272764 0.3512 0.179917 0.2041 0.3383 Uncertain 10_111631781_G->A 10 111631781 111631781 G A snp 50.74 1/1 6 2 0 2 1.0 intronic rs2274979 XPNPEP1 AU NM_001167604 exon5 c.6678+162G>A 0.275559 0.3512 Uncertain 10_111635212_T->C 10 111635212 111635212 T C snp 463.77 0/1 99 34 17 17 0.5 intronic rs3818285 XPNPEP1 AU NM_020383 exon7 c.10344-73T>C 0.275559 0.3929 Uncertain 10_111637635_A->C 10 111637635 111637635 A C snp 859.77 0/1 99 94 57 37 0.39 intronic rs2273740 XPNPEP1 AU NM_001167604 exon7 c.12684+10A>C 0.285942 0.3651 0.181685 0.2198 0.3543 Uncertain 10_111648006_G->C 10 111648006 111648006 G C snp 192.77 0/1 99 15 7 8 0.53 intronic rs2273739 XPNPEP1 AU NM_001167604 exon14 c.23009+56G>C 0.35623 0.4067 Uncertain 10_111652610_A->G 10 111652610 111652610 A G snp 1080.77 1/1 81 36 0 36 1.0 intronic rs3737153 XPNPEP1 AU NM_001167604 exon17 c.27828-159A>G 0.695887 0.7679 Uncertain 10_111667664_T->C 10 111667664 111667664 T C snp 515.77 1/1 39 16 0 16 1.0 intronic rs944969 XPNPEP1 AU NM_001167604 exon18 c.42632+91T>C 0.689696 0.7609 Uncertain 10_111667702_T->C 10 111667702 111667702 T C snp 174.9 1/1 15 5 0 5 1.0 intronic rs686155 XPNPEP1 AU NM_001167604 exon18 c.42632+129T>C 0.979433 1 Uncertain 10_111683281_GGCG->- 10 111683281 111683284 GGCG - indel 1076.73 1/1 54 28 0 28 1.0 UTR5 rs145751207 XPNPEP1 AU Uncertain 10_111706856_A->T 10 111706856 111706856 A T snp 1091.77 0/1 99 71 31 40 0.56 ncRNA_intronic rs12569906 ADD3-AS1 AU 0.343051 0.4157 Uncertain 10_111711658_C->T 10 111711658 111711658 C T snp 85.77 0/1 30 6 1 5 0.83 ncRNA_intronic rs12257668 ADD3-AS1 AU 0.327476 0.4147 0.4375 0.3125 Uncertain 10_111872758_G->A 10 111872758 111872758 G A snp 111.77 0/1 99 8 4 4 0.5 intronic ADD3 AR NM_019903 exon3 c.12262+85G>A Uncertain 10_111886089_G->A 10 111886089 111886089 G A snp 1012.77 1/1 75 30 0 30 1.0 intronic rs3731566 ADD3 AR NM_019903 exon12 c.25763-85G>A 0.856629 0.997 Uncertain 10_111985946_G->C 10 111985946 111985946 G C snp 608.77 0/1 99 79 50 29 0.37 UTR5 rs35741140 MXI1 AU,AD 0.214657 0.0843 0.210948 0.2109 0.125 Uncertain 10_112044553_-->TTC 10 112044553 112044553 - TTC indel 1337.73 1/1 84 28 0 28 1.0 intronic rs3053349 MXI1 AU,AD NM_130439 exon6 c.77015-28insTTC 0.635982 0.745 0.755911 0.5666 0.6289 Uncertain 10_112054908_C->A 10 112054908 112054908 C A snp 626.77 1/1 48 21 0 21 1.0 intronic rs7074311 SMNDC1 AU NM_005871 exon2 c.1078-77C>A 0.917332 0.999 Uncertain 10_112266822_G->A 10 112266822 112266822 G A snp 2893.77 1/1 99 105 0 105 1.0 exonic rs1889566 DUSP5 AU nonsynonymous SNV NM_004419 exon3 c.G658A p.A220T 0.973243 1 0.967246 0.9910 1 0.11 T 0.000 P -1.010 T 0.0 T 0.001 T Pathogenic 10_112266823_C->T 10 112266823 112266823 C T snp 2896.77 1/1 99 103 0 103 1.0 exonic rs1889565 DUSP5 AU nonsynonymous SNV NM_004419 exon3 c.C659T p.A220V 0.973243 1 0.967169 0.9910 1 0 D 0.000 P -1.024 T 0.017 T 0.015 T Pathogenic 10_112327386_C->T 10 112327386 112327386 C T snp 34.78 0/1 27 3 1 2 0.67 upstream SMC3 AD Uncertain 10_112327678_-->A 10 112327678 112327678 - A indel 3299.73 1/1 99 74 0 74 1.0 intronic rs55750861 SMC3 AD NM_005445 exon1 c.15+89insA 0.817093 0.9593 0.805587 Uncertain 10_112328838_C->G 10 112328838 112328838 C G snp 607.77 1/1 45 20 0 20 1.0 intronic rs4917577 SMC3 AD NM_005445 exon2 c.1197+67C>G 0.997604 1 Uncertain 10_112349204_A->G 10 112349204 112349204 A G snp 319.78 1/1 24 14 0 14 1.0 intronic rs2419572 SMC3 AD NM_005445 exon14 c.21788-158A>G 0.693291 0.7411 Uncertain 10_112356331_G->A 10 112356331 112356331 G A snp 1210.77 1/1 87 38 0 38 1.0 intronic rs7075340 SMC3 AD NM_005445 exon19 c.28734+23G>A 0.957268 0.9692 0.972620 0.9793 0.9662 Uncertain 10_112361870_A->G 10 112361870 112361870 A G snp 2723.77 1/1 99 106 0 106 1.0 exonic rs2419565 SMC3 AD synonymous SNV NM_005445 exon25 c.A3039G p.S1013S 0.986821 1 0.989851 0.9963 1 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000147595.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 10_112362019_G->T 10 112362019 112362019 G T snp 597.77 1/1 45 17 0 17 1.0 intronic rs2039874 SMC3 AD NM_005445 exon25 c.34362+83G>T 0.972244 0.9683 Uncertain 10_112404302_G->A 10 112404302 112404302 G A snp 376.77 0/1 99 42 23 19 0.45 exonic rs35141404 RBM20 AD synonymous SNV NM_001134363 exon1 c.G90A p.R30R 0.222244 0.1617 0.1522 0.1449 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter|criteria_provided\x2c_single_submitter;CLNACC=RCV000037004.2|RCV000127751.1;CLNDSDB=MedGen|MedGen;CLNDSDBID=CN169374|CN221809 Uncertain 10_112543031_G->T 10 112543031 112543031 G T snp 101.77 0/1 99 13 9 4 0.31 intronic rs117651179 RBM20 AD NM_001134363 exon3 c.138911-92G>T 0.00559105 0.0278 Uncertain 10_112543217_G->A 10 112543217 112543217 G A snp 1185.77 1/1 84 45 0 45 1.0 intronic rs6585012 RBM20 AD NM_001134363 exon3 c.138973+32G>A 0.788139 0.9673 0.727770 0.8077 0.9662 Uncertain 10_112544063_A->C 10 112544063 112544063 A C snp 565.77 1/1 42 17 0 17 1.0 intronic rs7898438 RBM20 AD NM_001134363 exon4 c.139886-35A>C 0.633986 0.8899 0.531537 0.6534 0.9003 Uncertain 10_112557514_C->T 10 112557514 112557514 C T snp 262.77 0/1 99 16 7 9 0.56 intronic rs6585014 RBM20 AD NM_001134363 exon6 c.153194+108C>T 0.242013 0.5 Uncertain 10_112570243_T->C 10 112570243 112570243 T C snp 1022.77 0/1 99 68 30 38 0.56 intronic rs11195338 RBM20 AD NM_001134363 exon8 c.166008+23T>C 0.316494 0.5506 0.303548 0.3515 0.5468 Uncertain 10_112572458_G->C 10 112572458 112572458 G C snp 6780.77 1/1 99 243 0 243 1.0 exonic rs1417635 RBM20 AD nonsynonymous SNV NM_001134363 exon9 c.G2303C p.W768S 0.991014 1 0.993649 0.9968 0.9984 0.85 T 0.0 P -0.995 T 0.0 T 0.0 T CLINSIG=non-pathogenic|non-pathogenic,non-pathogenic|non-pathogenic;CLNDBN=not_provided|not_specified,not_specified|not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter|criteria_provided\x2c_single_submitter,criteria_provided\x2c_single_submitter|criteria_provided\x2c_single_submitter;CLNACC=RCV000127742.1|RCV000151730.1,RCV000036963.2|RCV000127743.1;CLNDSDB=MedGen|MedGen,MedGen|MedGen;CLNDSDBID=CN221809|CN169374,CN169374|CN221809 Pathogenic 10_112579663_C->T 10 112579663 112579663 C T snp 398.77 1/1 30 12 0 12 1.0 intronic rs11195343 RBM20 AD NM_001134363 exon10 c.175617-166C>T 0.9998 1 Uncertain 10_112580880_C->T 10 112580880 112580880 C T snp 300.77 0/1 99 21 10 11 0.52 intronic rs10787283 RBM20 AD NM_001134363 exon11 c.176820-152C>T 0.586262 0.5972 Uncertain 10_112590810_G->C 10 112590810 112590810 G C snp 6773.77 1/1 99 248 0 248 1.0 intronic rs7070640 RBM20 AD NM_001134363 exon13 c.186606-8G>C 0.969649 1 0.971310 0.988 1 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter|criteria_provided\x2c_single_submitter;CLNACC=RCV000036987.2|RCV000127749.1;CLNDSDB=MedGen|MedGen;CLNDSDBID=CN169374|CN221809 Uncertain 10_112595719_G->C 10 112595719 112595719 G C snp 2019.77 1/1 99 73 0 73 1.0 exonic rs942077 RBM20 AD nonsynonymous SNV NM_001134363 exon14 c.G3667C p.E1223Q 0.697085 0.7956 0.758432 0.7637 0.7935 0.03 T 0.973 P -0.917 T 0.834 T 0.322 P CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter|criteria_provided\x2c_single_submitter;CLNACC=RCV000036991.2|RCV000127750.1;CLNDSDB=MedGen|MedGen;CLNDSDBID=CN169374|CN221809 Pathogenic 10_112641053_A->G 10 112641053 112641053 A G snp 2614.77 1/1 99 97 0 97 1.0 exonic rs7081726 PDCD4 AU nonsynonymous SNV NM_014456 exon3 c.A106G p.I36V 0.91853 0.9901 0.920268 0.9454 0.9963 0.35 T 0.131 P -0.902 T 0.0 T 0.0 T Pathogenic 10_112650209_A->G 10 112650209 112650209 A G snp 171.77 0/1 99 13 7 6 0.46 intronic rs2295992 PDCD4 AU NM_014456 exon8 c.14528-104A>G 0.163738 0.2381 Uncertain 10_112764594_T->C 10 112764594 112764594 T C snp 324.77 0/1 99 26 14 12 0.46 intronic rs1980869 SHOC2 AD NM_007373 exon5 c.40436+42T>C 0.843251 0.8442 0.822546 0.8348 0.8507 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000034336.4;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 10_113913222_T->C 10 113913222 113913222 T C snp 1024.77 0/1 99 76 34 42 0.55 UTR3 rs2297991 GPAM AU 0.730631 0.7579 Uncertain 10_113917085_T->A 10 113917085 113917085 T A snp 2790.77 0/1 99 250 131 119 0.48 exonic rs2254537 GPAM AU synonymous SNV NM_020918 exon19 c.A2043T p.P681P 0.757588 0.7589 0.721206 0.7256 0.7196 Uncertain 10_113917982_C->G 10 113917982 113917982 C G snp 948.77 0/1 99 70 35 35 0.5 intronic rs6585140 GPAM AU NM_020918 exon5 c.4766-91C>G 0.553514 0.5992 Uncertain 10_113920465_G->A 10 113920465 113920465 G A snp 2991.77 0/1 99 250 131 119 0.48 exonic rs2277207 GPAM AU synonymous SNV NM_020918 exon16 c.C1656T p.N552N 0.553514 0.6002 0.558435 0.5660 0.5731 Uncertain 10_113920652_T->C 10 113920652 113920652 T C snp 1298.77 0/1 99 89 41 48 0.54 intronic rs3824626 GPAM AU NM_020918 exon7 c.7319+26T>C 0.554113 0.6012 0.559059 0.5683 0.5758 Uncertain 10_113921354_G->A 10 113921354 113921354 G A snp 505.77 0/1 99 59 35 24 0.41 intronic rs2250802 GPAM AU NM_020918 exon8 c.8117-70G>A 0.809704 0.7579 Uncertain 10_113923595_C->G 10 113923595 113923595 C G snp 2265.77 0/1 99 170 73 97 0.57 intronic rs10736219 GPAM AU NM_020918 exon9 c.10267+21C>G 0.553115 0.5992 0.556666 0.5713 0.5754 Uncertain 10_113926012_G->A 10 113926012 113926012 G A snp 248.77 0/1 99 16 8 8 0.5 intronic rs10749108 GPAM AU NM_020918 exon11 c.12852-147G>A 0.553514 0.6022 Uncertain 10_113928487_A->C 10 113928487 113928487 A C snp 132.77 0/1 99 17 12 5 0.29 intronic rs2251579 GPAM AU NM_020918 exon13 c.15303-123A>C 0.583067 0.6042 Uncertain 10_113935379_T->C 10 113935379 113935379 T C snp 969.77 0/1 99 111 68 43 0.39 exonic rs10787428 GPAM AU nonsynonymous SNV NM_020918 exon6 c.A392G p.E131G 0.554712 0.6042 0.559280 0.5667 0.5779 0.13 T 1.000 P -0.903 T 0.457 P 0.081 P ID=CM067418;DIS=Lung cancer, susceptibility to, association with;TAG=DP;PUB=16741161 DP Pathogenic 10_113937941_G->T 10 113937941 113937941 G T snp 105.77 0/1 99 12 7 5 0.42 intronic rs2487294 GPAM AU NM_020918 exon18 c.24508+126G>T 0.78754 0.7579 Uncertain 10_113940329_T->C 10 113940329 113940329 T C snp 1557.77 0/1 99 141 73 68 0.48 exonic rs2792751 GPAM AU nonsynonymous SNV NM_020918 exon4 c.A127G p.I43V 0.806909 0.7629 0.780947 0.7428 0.7198 1 T 0.0 P -0.990 T 0.0 T 0.0 T Pathogenic 10_114043510_T->C 10 114043510 114043510 T C snp 989.77 0/1 99 92 51 41 0.45 exonic rs538867564 TECTB AU synonymous SNV NM_058222 exon1 c.T18C p.F6F 0.000199681 0.001 0.0002 0.0022 Uncertain 10_114053546_C->G 10 114053546 114053546 C G snp 873.77 0/1 99 78 42 36 0.46 exonic rs726009 TECTB AU synonymous SNV NM_058222 exon5 c.C534G p.S178S 0.492619 0.5241 0.7395 Uncertain 10_114059064_A->G 10 114059064 114059064 A G snp 387.77 1/1 30 10 0 10 1.0 intronic rs41306846 TECTB AU NM_058222 exon8 c.15757-185A>G 0.485024 0.6865 Uncertain 10_114059331_CTCTGTTTTC->- 10 114059331 114059340 CTCTGTTTTC - indel 16410.7 1/1 99 175 0 175 1.0 intronic rs11279253 TECTB AU NM_058222 exon8 c.15830+9_15830+18delCTCTGTTTTC 0.649161 0.6865 0.584253 0.5829 0.6538 ID=COSM1602976;OCCURENCE=1(liver) Uncertain 10_114061979_G->A 10 114061979 114061979 G A snp 2100.77 1/1 99 72 0 72 1.0 intronic rs10749114 TECTB AU NM_058222 exon9 c.18399+88G>A 0.95008 0.9653 Uncertain 10_114136349_G->C 10 114136349 114136349 G C snp 187.9 1/1 15 7 0 7 1.0 intronic rs2277208 ACSL5 AU NM_016234 exon1 c.139+143G>C 0.507788 0.5427 Uncertain 10_114164146_T->G 10 114164146 114164146 T G snp 164.9 1/1 15 5 0 5 1.0 intronic rs11195949 ACSL5 AU NM_203379 exon4 c.9564-122T>G 0.506789 0.5704 Uncertain 10_114169190_C->A 10 114169190 114169190 C A snp 99.28 1/1 9 3 0 3 1.0 intronic rs3736947 ACSL5 AU NM_203379 exon7 c.14560-74C>A 0.34385 0.5605 Uncertain 10_114171385_-->AC 10 114171385 114171385 - AC indel 309.73 0/1 51 17 2 15 0.88 intronic rs372207130 ACSL5 AU NM_203379 exon10 c.16583+98insAC Uncertain 10_114181683_A->G 10 114181683 114181683 A G snp 4334.77 1/1 99 155 0 155 1.0 intronic rs2255740 ACSL5 AU NM_203379 exon16 c.27000-21A>G 0.944688 0.9891 0.921805 0.9246 0.9910 Uncertain 10_114185856_-->G 10 114185856 114185856 - G indel 735.73 1/1 57 19 0 19 1.0 intronic rs34341101 ACSL5 AU NM_203379 exon19 c.31311-159insG 0.945687 0.9891 Uncertain 10_114186624_G->A 10 114186624 114186624 G A snp 4335.77 1/1 99 153 0 153 1.0 intronic rs2256368 ACSL5 AU NM_203379 exon20 c.31913+7G>A 0.963858 0.9871 0.933954 0.9308 0.9890 Uncertain 10_114192285_G->A 10 114192285 114192285 G A snp 2780.77 1/1 99 91 0 91 1.0 splicing rs2306158 ZDHHC6 AU NM_001303134 exon3 c.1718+6G>A 0.352835 0.5466 0.261495 0.3788 0.5032 Pathogenic 10_114197982_A->T 10 114197982 114197982 A T snp 498.77 1/1 36 21 0 21 1.0 intronic rs3736059 ZDHHC6 AU NM_001303134 exon6 c.7532-111A>T 0.517772 0.499 Uncertain 10_114200355_G->A 10 114200355 114200355 G A snp 3570.77 1/1 99 131 1 130 0.99 exonic rs2306159 ZDHHC6 AU synonymous SNV NM_001303134 exon5 c.C606T p.T202T 0.513978 0.4802 0.512225 0.5671 0.4377 Uncertain 10_114202219_C->T 10 114202219 114202219 C T snp 723.77 1/1 54 20 0 20 1.0 intronic rs11195961 ZDHHC6 AU NM_001303134 exon8 c.11548+110C>T 0.513578 0.4792 Uncertain 10_114496687_A->G 10 114496687 114496687 A G snp 720.77 0/1 99 50 23 27 0.54 intronic rs12770115 VTI1A AU NM_145206 exon7 c.221626+67930A>G 0.126597 0.1409 Uncertain 10_114724473_A->G 10 114724473 114724473 A G snp 2535.77 1/1 99 76 0 76 1.0 intronic rs11196171 TCF7L2 AD NM_001198531 exon4 c.13868+90A>G 0.504393 0.7073 Uncertain 10_114724498_-->TGATGG 10 114724498 114724498 - TGATGG indel 2230.73 1/1 99 38 0 38 1.0 intronic TCF7L2 AD NM_001198531 exon4 c.13868+115insTGATGG Uncertain 10_114849353_C->T 10 114849353 114849353 C T snp 392.77 0/1 99 42 26 16 0.38 intronic rs10749127 TCF7L2 AD NM_001146283 exon5 c.138784+54C>T 0.283746 0.2738 Uncertain 10_114903860_TG->- 10 114903860 114903861 TG - indel 380.74 1/1 29 39 1 38 0.97 intronic rs61407998 TCF7L2 AD NM_001146286 exon6 c.193269+76_193269+77delTG Uncertain 10_115332275_C->A 10 115332275 115332275 C A snp 31.77 0/1 60 8 6 2 0.25 intronic rs7097031 HABP2 AD NM_004132 exon3 c.21167-1772C>A 0.532947 0.6052 Uncertain 10_115334124_C->T 10 115334124 115334124 C T snp 1272.77 0/1 99 119 61 58 0.49 exonic rs3740530 HABP2 AD synonymous SNV NM_004132 exon3 c.C183T p.H61H 0.534545 0.6042 0.544057 0.6235 0.6660 0 D 0.0 P -0.941 T 0.99 D 0.584 D Likely benign 10_115335843_A->G 10 115335843 115335843 A G snp 2114.77 1/1 99 69 0 69 1.0 intronic rs911709 HABP2 AD NM_004132 exon4 c.22883+80A>G 0.983427 1 Uncertain 10_115336758_A->C 10 115336758 115336758 A C snp 566.77 0/1 99 46 26 20 0.43 intronic rs2302374 HABP2 AD NM_004132 exon5 c.24028-150A>C 0.178315 0.3065 Uncertain 10_115338615_A->G 10 115338615 115338615 A G snp 1082.77 0/1 99 67 28 39 0.58 intronic rs11575684 HABP2 AD NM_004132 exon7 c.25677+58A>G 0.180711 0.3095 Uncertain 10_115340492_G->A 10 115340492 115340492 G A snp 951.77 0/1 99 66 31 35 0.53 intronic rs2286742 HABP2 AD NM_004132 exon8 c.27571+41G>A 0.552117 0.6567 0.506228 0.5695 0.7192 Uncertain 10_115341545_G->C 10 115341545 115341545 G C snp 492.77 0/1 99 49 30 19 0.39 intronic rs2181082 HABP2 AD NM_004132 exon9 c.28754-89G>C 0.188698 0.3363 Uncertain 10_115343803_C->T 10 115343803 115343803 C T snp 298.77 0/1 99 36 25 11 0.31 intronic rs911703 HABP2 AD NM_004132 exon11 c.31026-103C>T 0.303914 0.3978 Uncertain 10_115343831_A->T 10 115343831 115343831 A T snp 576.77 0/1 99 59 35 24 0.41 intronic rs911701 HABP2 AD NM_004132 exon11 c.31026-75A>T 0.292133 0.3978 Uncertain 10_115343852_C->G 10 115343852 115343852 C G snp 869.77 0/1 99 81 47 34 0.42 intronic rs911700 HABP2 AD NM_004132 exon11 c.31026-54C>G 0.304113 0.3988 Uncertain 10_115349398_G->- 10 115349398 115349398 G - indel 904.73 1/1 72 24 0 24 1.0 intronic rs11196388 NRAP AU NM_006175 exon2 c.691-26delG 0.987021 1 0.984505 0.9954 1 Uncertain 10_115350800_T->C 10 115350800 115350800 T C snp 141.77 0/1 99 10 5 5 0.5 intronic rs1885435 NRAP AU NM_006175 exon3 c.1915+152T>C 0.685304 0.7163 Uncertain 10_115357078_G->A 10 115357078 115357078 G A snp 1090.77 0/1 99 86 40 46 0.53 intronic rs12241995 NRAP AU NM_006175 exon6 c.8210+135G>A 0.306909 0.3998 Uncertain 10_115357132_A->- 10 115357132 115357132 A - indel 480.73 0/1 99 25 11 14 0.56 intronic rs113389465 NRAP AU NM_006175 exon6 c.8210+189delA 0.307708 0.3998 Uncertain 10_115370254_A->G 10 115370254 115370254 A G snp 1851.77 0/1 99 160 68 92 0.57 exonic rs12243176 NRAP AU synonymous SNV NM_006175 exon30 c.T3462C p.I1154I 0.469449 0.6032 0.442334 0.4649 0.6245 Uncertain 10_115370274_T->C 10 115370274 115370274 T C snp 1881.77 0/1 99 159 71 88 0.55 exonic rs10749138 NRAP AU nonsynonymous SNV NM_006175 exon30 c.A3442G p.I1148V 0.462859 0.5992 0.433262 0.4627 0.6223 1 T 0.000 P -0.924 T 0.0 T 0.001 T Pathogenic 10_115371873_G->T 10 115371873 115371873 G T snp 86.28 1/1 9 3 0 3 1.0 intronic rs1539588 NRAP AU NM_006175 exon13 c.23259-119G>T 0.204473 0.3373 Uncertain 10_115373851_T->C 10 115373851 115373851 T C snp 1184.77 1/1 87 31 0 31 1.0 intronic rs2419850 NRAP AU NM_006175 exon14 c.25208-90T>C 0.880391 0.8958 Uncertain 10_115374226_A->G 10 115374226 115374226 A G snp 109.77 0/1 99 12 7 5 0.42 intronic rs560107005 NRAP AU NM_006175 exon14 c.25322+171A>G 0.000199681 0.001 Uncertain 10_115375528_C->A 10 115375528 115375528 C A snp 1050.77 0/1 99 87 39 48 0.55 exonic rs11196397 NRAP AU synonymous SNV NM_006175 exon26 c.G2916T p.P972P 0.227636 0.3958 0.212825 0.2565 0.3952 Uncertain 10_115380608_A->C 10 115380608 115380608 A C snp 139.03 1/1 12 4 0 4 1.0 intronic rs2419851 NRAP AU NM_006175 exon18 c.31734+141A>C 0.876797 0.9028 Uncertain 10_115386088_C->G 10 115386088 115386088 C G snp 325.77 0/1 99 36 25 11 0.31 intronic rs3127087 NRAP AU NM_006175 exon22 c.37171+184C>G 0.279353 0.2817 Uncertain 10_115388588_A->G 10 115388588 115388588 A G snp 194.77 0/1 82 11 3 8 0.73 intronic rs2286741 NRAP AU NM_006175 exon23 c.39942-87A>G 0.279553 0.2817 Uncertain 10_115388944_C->T 10 115388944 115388944 C T snp 794.77 0/1 99 41 16 25 0.61 intronic rs2286740 NRAP AU NM_006175 exon23 c.40047+164C>T 0.279752 0.2817 Uncertain 10_115389267_G->A 10 115389267 115389267 G A snp 67.77 0/1 96 6 3 3 0.5 intronic rs2286737 NRAP AU NM_006175 exon24 c.40613-79G>A 0.279952 0.2817 Uncertain 10_115389356_G->A 10 115389356 115389356 G A snp 523.77 0/1 99 54 31 23 0.43 exonic rs2286736 NRAP AU synonymous SNV NM_006175 exon18 c.C1926T p.L642L 0.27476 0.2817 0.273720 0.3105 0.2772 Uncertain 10_115389366_G->A 10 115389366 115389366 G A snp 633.77 0/1 99 60 34 26 0.43 exonic rs2286735 NRAP AU nonsynonymous SNV NM_006175 exon18 c.C1916T p.A639V 0.27476 0.2817 0.273720 0.3103 0.2772 0.16 T 0.989 P -0.990 T 0.002 T 0.021 T Pathogenic 10_115393929_G->A 10 115393929 115393929 G A snp 1520.77 0/1 99 125 57 68 0.54 exonic rs3189030 NRAP AU nonsynonymous SNV NM_006175 exon14 c.C1364T p.S455L 0.290735 0.4266 0.251115 0.3061 0.4384 0.29 T 0.296 P -0.935 T 0.083 T 0.018 T Pathogenic 10_115400958_C->T 10 115400958 115400958 C T snp 221.84 1/1 18 9 0 9 1.0 intronic rs1539592 NRAP AU NM_006175 exon30 c.52390-165C>T 0.564297 0.7103 Uncertain 10_115400972_G->A 10 115400972 115400972 G A snp 551.77 1/1 42 17 0 17 1.0 intronic rs1539593 NRAP AU NM_006175 exon30 c.52390-151G>A 0.564297 0.7103 Uncertain 10_115401032_T->- 10 115401032 115401032 T - indel 1861.73 1/1 99 60 0 60 1.0 intronic rs5788038 NRAP AU NM_006175 exon30 c.52390-91delT 0.870807 0.9028 Uncertain 10_115401081_T->C 10 115401081 115401081 T C snp 2532.77 1/1 99 101 0 101 1.0 intronic rs3127105 NRAP AU NM_006175 exon30 c.52390-42T>C 0.564297 0.7103 0.522528 0.6179 0.7181 Uncertain 10_115401264_A->G 10 115401264 115401264 A G snp 1594.77 1/1 99 56 0 56 1.0 intronic rs3121465 NRAP AU NM_006175 exon30 c.52498+33A>G 0.564297 0.7103 0.525680 0.6188 0.7176 Uncertain 10_115401365_A->G 10 115401365 115401365 A G snp 96.28 1/1 9 3 0 3 1.0 intronic rs3121466 NRAP AU NM_006175 exon30 c.52498+134A>G 0.870807 0.9028 Uncertain 10_115405466_G->A 10 115405466 115405466 G A snp 93.28 1/1 9 3 0 3 1.0 intronic rs3121477 NRAP AU NM_006175 exon31 c.56850-117G>A 0.564297 0.7103 Uncertain 10_115405615_T->C 10 115405615 115405615 T C snp 1778.77 1/1 99 72 0 72 1.0 exonic rs3127106 NRAP AU nonsynonymous SNV NM_001261463 exon11 c.A1079G p.Q360R 0.564297 0.7103 0.525988 0.6175 0.7177 1 T 0.0 P -0.959 T 0.0 T 0.001 T Pathogenic 10_115405664_C->T 10 115405664 115405664 C T snp 2334.77 1/1 99 90 0 90 1.0 exonic rs3121478 NRAP AU nonsynonymous SNV NM_001261463 exon11 c.G1030A p.A344T 0.564297 0.7103 0.525834 0.6175 0.7176 0.37 T 0.001 P -1.053 T 0.044 T 0.022 T Pathogenic 10_115405703_-->AA 10 115405703 115405703 - AA indel 2013.73 1/1 99 74 0 74 1.0 splicing rs35741231 NRAP AU NM_006175 exon31 c.56967+3insAA 0.4616 0.5125 Pathogenic 10_115405791_A->T 10 115405791 115405791 A T snp 704.77 1/1 54 18 0 18 1.0 intronic rs3121479 NRAP AU NM_006175 exon31 c.56967+91A>T 0.564297 0.7103 Uncertain 10_115406461_A->G 10 115406461 115406461 A G snp 90.28 1/1 9 3 0 3 1.0 intronic rs3121482 NRAP AU NM_006175 exon32 c.57948-220A>G 0.575879 0.7143 Uncertain 10_115406485_C->T 10 115406485 115406485 C T snp 412.77 1/1 36 13 0 13 1.0 intronic rs3121483 NRAP AU NM_006175 exon32 c.57948-196C>T 0.564497 0.7123 Uncertain 10_115410234_T->C 10 115410234 115410234 T C snp 1394.77 0/1 99 137 77 60 0.44 exonic rs2185913 NRAP AU nonsynonymous SNV NM_001261463 exon8 c.A746G p.Y249C 0.203474 0.3343 0.212825 0.2598 0.3281 0.02 T 1.000 P -1.062 T 1.0 D 1.0 D Pathogenic 10_115411614_A->G 10 115411614 115411614 A G snp 3595.77 1/1 99 136 0 136 1.0 exonic rs2154028 NRAP AU nonsynonymous SNV NM_001261463 exon7 c.T623C p.V208A 0.877596 0.9038 0.868907 0.8952 0.8991 0.56 T 0.000 P -1.015 T 0.0 T 0.002 T Pathogenic 10_115412686_G->A 10 115412686 115412686 G A snp 1652.77 1/1 99 62 0 62 1.0 intronic rs3121488 NRAP AU NM_006175 exon36 c.63960-7G>A 0.877796 0.9038 0.869676 0.8955 0.8989 Uncertain 10_115414000_T->C 10 115414000 115414000 T C snp 403.77 0/1 99 41 24 17 0.41 intronic rs41310310 NRAP AU NM_006175 exon37 c.65151+116T>C 0.0850639 0.119 Uncertain 10_115417077_G->C 10 115417077 115417077 G C snp 282.9 0/1 15 10 2 8 0.8 intronic rs4550160 NRAP AU NM_006175 exon38 c.68495-151G>C 0.0147764 0.0466 Uncertain 10_115417289_G->A 10 115417289 115417289 G A snp 5103.77 1/1 99 199 0 199 1.0 exonic rs1891762 NRAP AU synonymous SNV NM_001261463 exon4 c.C300T p.H100H 0.876597 0.9038 0.867753 0.8949 0.8994 Uncertain 10_115422986_G->T 10 115422986 115422986 G T snp 1382.77 0/1 99 89 41 48 0.54 intronic rs41302719 NRAP AU NM_006175 exon40 c.74377-124G>T 0.0892572 0.119 Uncertain 10_115423094_G->C 10 115423094 115423094 G C snp 2507.77 0/1 99 250 143 107 0.43 intronic rs12770981 NRAP AU NM_006175 exon40 c.74377-16G>C 0.302716 0.4028 0.270183 0.3172 0.4146 Uncertain 10_115423747_G->A 10 115423747 115423747 G A snp 1688.77 0/1 99 112 50 62 0.55 UTR5 rs1109927 NRAP AU 0.303315 0.2867 Uncertain 10_115439530_G->C 10 115439530 115439530 G C snp 173.77 0/1 99 16 9 7 0.44 exonic rs28411397 CASP7 AU nonsynonymous SNV NM_001267057 exon1 c.G17C p.R6P 0.275559 0.4127 0.5130 0.6667 Pathogenic 10_115439569_C->T 10 115439569 115439569 C T snp 955.77 1/1 69 35 0 35 1.0 exonic rs7921977 CASP7 AU nonsynonymous SNV NM_001267057 exon1 c.C56T p.T19I 0.854233 0.8224 0.8661 0.7719 Pathogenic 10_115451781_C->T 10 115451781 115451781 C T snp 206.77 0/1 99 32 22 10 0.31 exonic rs12358524 CASP7 AU synonymous SNV NM_033338 exon2 c.C51T p.N17N 0.0708866 0.1071 0.088575 0.0896 0.0868 Uncertain 10_115457114_G->A 10 115457114 115457114 G A snp 300.77 0/1 99 25 14 11 0.44 intronic rs78849490 CASP7 AU NM_033338 exon3 c.5522-138G>A 0.0708866 0.1071 Uncertain 10_115457450_G->A 10 115457450 115457450 G A snp 110.77 0/1 99 11 6 5 0.45 intronic rs77120019 CASP7 AU NM_001267056 exon2 c.110+88G>A 0.0708866 0.1071 Uncertain 10_115481018_C->T 10 115481018 115481018 C T snp 352.77 0/1 99 47 32 15 0.32 intronic rs3814231 CASP7 AU NM_001267056 exon3 c.23675+91C>T 0.261182 0.4127 Uncertain 10_115481306_G->A 10 115481306 115481306 G A snp 114.77 0/1 99 8 3 5 0.63 intronic rs75826625 CASP7 AU NM_001267056 exon4 c.24157-103G>A 0.0203674 0.0744 ID=COSN163765;OCCURENCE=1(breast) Uncertain 10_115489152_C->G 10 115489152 115489152 C G snp 1898.77 0/1 99 210 128 82 0.39 exonic rs2227310 CASP7 AU nonsynonymous SNV NM_001267058 exon6 c.C690G p.D230E 0.2498 0.4157 0.216054 0.2598 0.4223 1 T 0.000 P -0.917 T 0.0 T 0.001 T Pathogenic 10_115489167_G->A 10 115489167 115489167 G A snp 2156.77 0/1 99 230 138 92 0.4 exonic rs2227309 CASP7 AU nonsynonymous SNV NM_033340 exon8 c.G746A p.R249K 0.2498 0.4087 0.217207 0.2595 0.4167 0 D 1.0 P -0.927 T 0.176 T 0.066 T Pathogenic 10_115515120_G->A 10 115515120 115515120 G A snp 1264.77 0/1 99 82 33 49 0.6 UTR5 rs3981351 PLEKHS1 AU 0.691294 0.5774 0.742444 Uncertain 10_115525175_T->C 10 115525175 115525175 T C snp 1970.77 0/1 99 233 140 93 0.4 intronic rs4631835 PLEKHS1 AU NM_182601 exon1 c.10+26T>C 0.650359 0.5694 0.707360 0.7415 0.5510 Uncertain 10_115529576_T->A 10 115529576 115529576 T A snp 1024.77 0/1 99 86 44 42 0.49 exonic rs41292632 PLEKHS1 AU nonsynonymous SNV NM_001193435 exon5 c.T205A p.F69I 0.20028 0.3175 0.150853 0.1947 0.2826 0.07 T 0.0 P -0.960 T 0.893 T 0.394 P Pathogenic 10_115533975_T->C 10 115533975 115533975 T C snp 1598.77 0/1 99 104 44 60 0.58 intronic rs3750903 PLEKHS1 AU NM_024889 exon9 c.18949-10T>C 0.411142 0.4206 0.411579 0.3939 0.4049 Uncertain 10_115535405_A->G 10 115535405 115535405 A G snp 255.77 0/1 99 19 9 10 0.53 intronic rs7899444 PLEKHS1 AU NM_024889 exon11 c.20487-118A>G 0.407947 0.4206 Uncertain 10_115535426_G->A 10 115535426 115535426 G A snp 415.77 0/1 99 32 15 17 0.53 intronic rs7899829 PLEKHS1 AU NM_024889 exon11 c.20487-97G>A 0.377396 0.4206 Uncertain 10_115535599_T->C 10 115535599 115535599 T C snp 1720.77 0/1 99 214 136 78 0.36 exonic rs3750901 PLEKHS1 AU synonymous SNV NM_001193435 exon9 c.T759C p.A253A 0.209665 0.3482 0.164309 0.2123 0.3335 0.0 P -0.961 T Likely benign 10_115537960_C->T 10 115537960 115537960 C T snp 1986.77 0/1 99 180 98 82 0.46 intronic rs2900990 PLEKHS1 AU NM_182601 exon12 c.12350+471C>T 0.321486 0.4206 Uncertain 10_115540311_T->G 10 115540311 115540311 T G snp 1151.77 0/1 99 74 36 38 0.51 intronic rs11196482 PLEKHS1 AU NM_024889 exon12 c.25324-49T>G 0.349641 0.4187 0.353990 0.3766 0.4050 Uncertain 10_115540411_T->C 10 115540411 115540411 T C snp 2039.77 0/1 99 195 104 91 0.47 exonic rs11196483 PLEKHS1 AU synonymous SNV NM_001193435 exon11 c.T972C p.A324A 0.355831 0.4187 0.357912 0.3787 0.4042 Uncertain 10_115602408_G->A 10 115602408 115602408 G A snp 135.03 1/1 12 4 0 4 1.0 intronic rs10885514 DCLRE1A AU NM_014881 exon4 c.7337+161G>A 0.759185 0.8185 Uncertain 10_115609915_C->G 10 115609915 115609915 C G snp 7068.77 1/1 99 249 0 249 1.0 exonic rs3750898 DCLRE1A AU nonsynonymous SNV NM_014881 exon2 c.G949C p.D317H 0.657748 0.8185 0.637859 0.7562 0.8435 0.07 T 0.064 P -1.003 T 0.993 D 0.72 D Pathogenic 10_115618246_T->C 10 115618246 115618246 T C snp 1900.77 1/1 99 57 0 57 1.0 intronic rs2301180 NHLRC2 AU NM_198514 exon2 c.3655-40T>C 0.223642 0.3145 0.234515 0.2980 0.3578 Uncertain 10_115644040_G->A 10 115644040 115644040 G A snp 2862.77 1/1 99 111 0 111 1.0 exonic rs7913176 NHLRC2 AU nonsynonymous SNV NM_198514 exon5 c.G940A p.V314I 0.223442 0.3125 0.238813 0.2720 0.3256 0.79 T 0.941 P -0.986 T 0.552 P 0.064 P Pathogenic 10_115675025_G->A 10 115675025 115675025 G A snp 4073.77 1/1 99 141 0 141 1.0 intergenic rs7895609 NHLRC2 AU 0.746206 0.8155 0.7399 0.8258 Uncertain 10_115805056_G->C 10 115805056 115805056 G C snp 6913.77 1/1 99 241 0 241 1.0 exonic rs1801253 ADRB1 AU nonsynonymous SNV NM_000684 exon1 c.G1165C p.G389R 0.701677 0.7877 0.699670 0.7360 0.7537 1 T 0.000 P -0.959 T CLINSIG=drug-response;CLNDBN=Congestive_heart_failure_and_beta-blocker_response\x2c_modifier_of;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000019322.1;CLNDSDB=MedGen;CLNDSDBID=C2676080 ID=CM994344;DIS=Gain of function;TAG=FP;PUB=10212248 FP Pathogenic 10_115947871_G->A 10 115947871 115947871 G A snp 2236.77 0/1 99 209 114 95 0.45 exonic rs141909159 TDRD1 AU nonsynonymous SNV NM_198795 exon2 c.G281A p.G94E 0.00339457 0.0139 0.000077 0.0013 0.0155 0.24 T 1 D -0.924 T 0.999 D 0.95 D Pathogenic 10_116032519_A->G 10 116032519 116032519 A G snp 901.77 0/1 99 113 68 45 0.4 exonic rs597371 VWA2 AU nonsynonymous SNV NM_001272046 exon6 c.A392G p.E131G 0.557109 0.3373 0.555590 0.4770 0.3488 1 T 0.029 P -0.903 T 0.0 T 0.0 T Pathogenic 10_116044587_C->T 10 116044587 116044587 C T snp 416.77 0/1 99 55 35 20 0.36 intronic rs10787521 VWA2 AU NM_001272046 exon10 c.36149-34C>T 0.416534 0.4454 0.343538 0.4599 0.5798 Uncertain 10_116045577_T->C 10 116045577 116045577 T C snp 77.77 0/1 99 8 5 3 0.38 intronic rs1889446 VWA2 AU NM_001272046 exon11 c.37225-120T>C 0.675519 0.7232 Uncertain 10_116050008_A->G 10 116050008 116050008 A G snp 1972.77 0/1 99 210 124 86 0.41 exonic rs11196686 VWA2 AU nonsynonymous SNV NM_001272046 exon13 c.A2132G p.Q711R 0.141573 0.2857 0.1264 0.2707 0.69 T 1.000 P -1.019 T 0.0 T 0.0 T Pathogenic 10_116058933_G->A 10 116058933 116058933 G A snp 414.77 1/1 33 13 0 13 1.0 intronic rs1889450 AFAP1L2 AU NM_032550 exon4 c.3218-85G>A 0.813698 0.9841 Uncertain 10_116060194_-->G 10 116060194 116060194 - G indel 5224.73 1/1 99 131 0 131 1.0 intronic rs3214266 AFAP1L2 AU NM_032550 exon6 c.4403-9insG 0.942292 0.9851 0.932907 0.9415 0.9927 Uncertain 10_116060387_T->C 10 116060387 116060387 T C snp 3121.77 0/1 99 249 120 129 0.52 exonic rs2286396 AFAP1L2 AU synonymous SNV NM_001001936 exon14 c.A1605G p.R535R 0.641573 0.7054 0.681455 0.7791 0.7271 Uncertain 10_116067461_C->T 10 116067461 116067461 C T snp 74.77 0/1 99 7 4 3 0.43 intronic rs2286397 AFAP1L2 AU NM_032550 exon10 c.11763-102C>T 0.136781 0.2113 Uncertain 10_116068176_A->G 10 116068176 116068176 A G snp 2390.77 1/1 99 79 0 79 1.0 intronic rs581327 AFAP1L2 AU NM_032550 exon11 c.12391-15A>G 0.904353 0.9802 0.898124 0.9254 0.9820 Uncertain 10_116073696_C->T 10 116073696 116073696 C T snp 6481.77 1/1 99 238 0 238 1.0 exonic rs3813722 AFAP1L2 AU synonymous SNV NM_001001936 exon7 c.G726A p.T242T 0.584864 0.8929 0.579809 0.7249 0.9071 Uncertain 10_116075228_A->G 10 116075228 116075228 A G snp 1113.77 1/1 81 33 0 33 1.0 intronic rs694883 AFAP1L2 AU NM_032550 exon14 c.19518-90A>G 0.955272 1 Uncertain 10_116075271_-->CC 10 116075271 116075271 - CC indel 3214.74 1/1 99 70 0 70 1.0 intronic rs377755078 AFAP1L2 AU NM_032550 exon14 c.19518-47insCC 0.922324 1 0.9480 0.9995 Uncertain 10_116079188_T->C 10 116079188 116079188 T C snp 285.78 1/1 24 8 0 8 1.0 intronic rs11196693 AFAP1L2 AU NM_032550 exon14 c.19724+3664T>C 0.735823 0.9395 Uncertain 10_116079505_G->A 10 116079505 116079505 G A snp 1002.77 1/1 75 33 0 33 1.0 intronic rs10885547 AFAP1L2 AU NM_032550 exon15 c.27129-3424G>A 0.736022 0.9405 Uncertain 10_116085784_-->CCG 10 116085784 116085784 - CCG indel 13123.7 1/1 99 214 0 214 1.0 exonic rs60778514 AFAP1L2 AU nonframeshift insertion NM_001287824 exon5 c.330_331insCGG p.G111delinsRG 0.6030 0.9697 Uncertain 10_116091555_T->C 10 116091555 116091555 T C snp 1500.77 1/1 99 63 0 63 1.0 intronic rs10787524 AFAP1L2 AU NM_032550 exon16 c.35761-6T>C 0.736621 0.9405 0.741603 0.7575 0.9493 Uncertain 10_116100320_T->G 10 116100320 116100320 T G snp 1979.77 1/1 99 67 0 67 1.0 intronic rs4752395 AFAP1L2 AU NM_032550 exon18 c.44561-41T>G 0.694489 0.9454 0.686837 0.7863 0.9521 Uncertain 10_116199175_G->A 10 116199175 116199175 G A snp 68.77 0/1 97 8 4 4 0.5 intronic rs941853 ABLIM1 AU NM_002313 exon3 c.2994+163G>A 0.224441 0.256 Uncertain 10_116209978_-->AC 10 116209978 116209978 - AC indel 175.73 0/1 99 11 6 5 0.45 intronic rs34505590 ABLIM1 AU NM_002313 exon9 c.15364-1404insAC 0.203874 0.1885 Uncertain 10_116210018_T->C 10 116210018 116210018 T C snp 37.77 0/1 66 5 2 3 0.6 intronic rs10885568 ABLIM1 AU NM_002313 exon9 c.15364-1364T>C 0.179313 0.1895 Uncertain 10_116228048_G->T 10 116228048 116228048 G T snp 521.77 0/1 99 34 18 16 0.47 intronic rs1815248 ABLIM1 AU NM_002313 exon12 c.31957+73G>T 0.30012 0.4097 Uncertain 10_116304971_T->C 10 116304971 116304971 T C snp 300.77 0/1 99 18 7 11 0.61 intronic rs2483595 ABLIM1 AU NM_002313 exon17 c.108839+114T>C 0.78135 0.6667 Uncertain 10_116307504_A->G 10 116307504 116307504 A G snp 1294.77 0/1 99 126 67 59 0.47 exonic rs2247528 ABLIM1 AU synonymous SNV NM_001003408 exon5 c.T525C p.N175N 0.783147 0.6706 0.791788 0.7273 0.6768 1.0 P -1.014 T Likely benign 10_116335246_G->A 10 116335246 116335246 G A snp 1769.77 0/1 99 146 68 78 0.53 exonic rs985273 ABLIM1 AU synonymous SNV NM_001003408 exon3 c.C312T p.F104F 0.304513 0.2321 0.266954 0.2178 0.2319 Uncertain 10_116417547_C->T 10 116417547 116417547 C T snp 199.82 0/1 19 7 1 6 0.86 intronic rs1333682 ABLIM1 AU NM_002313 exon22 c.221697-168C>T 0.736621 0.7232 Uncertain 10_116853177_C->G 10 116853177 116853177 C G snp 79.77 0/1 99 10 5 5 0.5 UTR5 rs2484265 ATRNL1 AU 0.671126 0.8046 Uncertain 10_116856543_T->C 10 116856543 116856543 T C snp 546.77 1/1 42 16 0 16 1.0 intronic rs1264777 ATRNL1 AU NM_207303 exon1 c.293+2741T>C 0.953075 1 Uncertain 10_116931101_-->TT 10 116931101 116931101 - TT indel 2459.73 1/1 99 48 0 48 1.0 intronic rs3086141 ATRNL1 AU NM_001276282 exon8 c.77617-25insTT 0.952276 1 0.952231 0.9865 1 Uncertain 10_117075175_G->A 10 117075175 117075175 G A snp 1479.77 1/1 99 56 0 56 1.0 exonic ATRNL1 AU nonsynonymous SNV NM_207303 exon18 c.G2966A p.S989N 0.96905 0.999 0.964785 0.9738 0.9970 0.57 T 0.000 P -0.991 T 0.0 T 0.001 T Pathogenic 10_117226713_T->C 10 117226713 117226713 T C snp 489.77 0/1 99 50 24 26 0.52 exonic ATRNL1 AU synonymous SNV NM_207303 exon23 c.T3447C p.N1149N 0.0605032 0.127 0.016931 0.0490 0.1627 Uncertain 10_117228794_A->G 10 117228794 117228794 A G snp 416.77 0/1 99 46 25 21 0.46 exonic ATRNL1 AU synonymous SNV NM_207303 exon24 c.A3609G p.T1203T 0.344449 0.1677 0.455521 0.4366 0.1924 Uncertain 10_117278988_G->C 10 117278988 117278988 G C snp 141.03 1/1 12 4 0 4 1.0 intronic ATRNL1 AU NM_207303 exon25 c.425325+154G>C 0.9998 1 Uncertain 10_117357169_G->A 10 117357169 117357169 G A snp 146.03 1/1 12 6 0 6 1.0 intronic ATRNL1 AU NM_207303 exon26 c.455537+48123G>A 0.540136 0.8522 0.5917 0.8385 Uncertain 10_117357264_G->A 10 117357264 117357264 G A snp 104.28 1/1 9 5 0 5 1.0 intronic ATRNL1 AU NM_207303 exon26 c.455537+48218G>A 0.399561 0.6915 0.4097 0.7049 Uncertain 10_117486910_T->G 10 117486910 117486910 T G snp 1735.77 1/1 99 55 0 55 1.0 intronic ATRNL1 AU NM_207303 exon27 c.633356+45T>G 0.460264 0.7768 0.329233 0.4604 0.7816 Uncertain 10_117856386_-->CA 10 117856386 117856386 - CA indel 503.73 0/1 99 49 21 28 0.57 intronic GFRA1 AU NM_001145453 exon5 c.32367+111insCA Uncertain 10_117884950_G->A 10 117884950 117884950 G A snp 2413.77 0/1 99 181 89 92 0.51 exonic rs2245020 GFRA1 AU synonymous SNV NM_005264 exon6 c.C552T p.N184N 0.485024 0.5546 0.483700 0.5567 0.5905 Uncertain 10_117971016_T->C 10 117971016 117971016 T C snp 103.77 0/1 99 32 27 5 0.16 intronic rs7090693 GFRA1 AU NM_005264 exon7 c.147234-126T>C 0.357428 0.2887 Uncertain 10_117971244_T->C 10 117971244 117971244 T C snp 257.77 0/1 99 21 11 10 0.48 intronic rs8192663 GFRA1 AU NM_005264 exon7 c.147249+87T>C 0.102236 0.255 0.051248 Uncertain 10_117986207_G->T 10 117986207 117986207 G T snp 146.03 1/1 12 6 0 6 1.0 intronic rs7094346 GFRA1 AU NM_005264 exon7 c.147249+15050G>T 0.791134 0.8284 Uncertain 10_118031349_G->T 10 118031349 118031349 G T snp 2333.77 1/1 99 96 2 94 0.98 intronic rs1362216 GFRA1 AU NM_001145453 exon9 c.207593-152G>T 0.24401 0.3333 Uncertain 10_118031376_C->A 10 118031376 118031376 C A snp 3217.75 1/1 99 123 0 123 1.0 intronic rs2532691 GFRA1 AU NM_001145453 exon9 c.207593-125C>A 0.990016 1 Uncertain 10_118031647_C->T 10 118031647 118031647 C T snp 388.77 1/1 30 12 0 12 1.0 UTR5 rs8192661 GFRA1 AU 0.24401 0.3333 Uncertain 10_118084468_A->G 10 118084468 118084468 A G snp 1476.77 0/1 99 154 92 62 0.4 UTR5 rs41386650 CCDC172 AU 0.152556 0.2024 0.107315 Uncertain 10_118084657_T->C 10 118084657 118084657 T C snp 1033.77 0/1 99 77 42 35 0.45 intronic rs2286630 CCDC172 AU NM_198515 exon2 c.79+55T>C 0.14996 0.2034 0.106220 Uncertain 10_118187360_T->C 10 118187360 118187360 T C snp 99.28 1/1 9 3 0 3 1.0 upstream rs17094724 PNLIPRP3 AU 0.104233 0.1746 Uncertain 10_118196141_T->G 10 118196141 118196141 T G snp 801.77 1/1 60 26 0 26 1.0 intronic rs11197681 PNLIPRP3 AU NM_001011709 exon2 c.8698-81T>G 0.160144 0.1944 Uncertain 10_118215150_-->T 10 118215150 118215150 - T indel 84.37 0/1 8 7 1 6 0.86 intronic rs34077637 PNLIPRP3 AU NM_001011709 exon5 c.27709-83insT 0.729034 0.6617 Uncertain 10_118231328_A->G 10 118231328 118231328 A G snp 1099.77 0/1 99 117 66 51 0.44 exonic rs61729307 PNLIPRP3 AU nonsynonymous SNV NM_001011709 exon10 c.A1109G p.Q370R 0.0249601 0.0496 0.001153 0.0197 0.0451 0.82 T 1 N -1.072 T 0.004 T 0.03 T Pathogenic 10_118231360_G->A 10 118231360 118231360 G A snp 2540.77 1/1 99 95 0 95 1.0 exonic rs10736251 PNLIPRP3 AU nonsynonymous SNV NM_001011709 exon10 c.G1141A p.V381I 0.964058 1 0.961326 0.9836 1 0.18 T 0.0 P -0.948 T 0.0 T 0.0 T Pathogenic 10_118231363_A->G 10 118231363 118231363 A G snp 2653.77 1/1 99 95 0 95 1.0 exonic rs1897519 PNLIPRP3 AU nonsynonymous SNV NM_001011709 exon10 c.A1144G p.R382G 0.96845 1 0.963171 0.9894 1 1 T 0.0 P -0.965 T 0.0 T 0.0 T Pathogenic 10_118231406_A->C 10 118231406 118231406 A C snp 2505.77 1/1 99 85 0 85 1.0 intronic rs10749217 PNLIPRP3 AU NM_001011709 exon10 c.43867+15A>C 0.750599 0.7649 0.751192 0.8009 0.7484 Uncertain 10_118236610_T->A 10 118236610 118236610 T A snp 3906.77 1/1 99 142 0 142 1.0 exonic rs2116286 PNLIPRP3 AU nonsynonymous SNV NM_001011709 exon12 c.T1349A p.F450Y 0.146765 0.3899 0.043749 0.0808 0.3920 0.01 T 0.112 P -1.145 T 1.0 D 0.998 D Pathogenic 10_118313116_T->C 10 118313116 118313116 T C snp 1295.77 0/1 99 111 55 56 0.5 intronic rs2915749 PNLIP AR NM_000936 exon6 c.7634-122T>C 0.835663 0.6637 Uncertain 10_118313265_T->C 10 118313265 118313265 T C snp 2096.77 0/1 99 168 80 88 0.52 exonic rs2915748 PNLIP AR synonymous SNV NM_000936 exon6 c.T486C p.N162N 0.842652 0.6667 0.904275 0.8816 0.6538 Uncertain 10_118351905_A->C 10 118351905 118351905 A C snp 1161.77 1/1 84 37 0 37 1.0 intronic PNLIPRP1 AU NM_001303135 exon4 c.1286-22A>C 0.638379 0.6042 0.678841 0.6985 0.6213 Uncertain 10_118355530_A->G 10 118355530 118355530 A G snp 143.77 0/1 99 14 9 5 0.36 intronic PNLIPRP1 AU NM_001303135 exon6 c.5084-195A>G 0.432708 0.2004 Uncertain 10_118355695_A->T 10 118355695 118355695 A T snp 2936.77 0/1 99 250 135 115 0.46 intronic PNLIPRP1 AU NM_001303135 exon6 c.5084-30A>T 0.352636 0.1776 0.417730 0.4699 0.1696 Uncertain 10_118357490_C->T 10 118357490 118357490 C T snp 6057.77 1/1 99 215 0 215 1.0 intronic PNLIPRP1 AU NM_001303135 exon7 c.6818+31C>T 0.943291 1 0.936414 0.9824 0.9998 Uncertain 10_118359461_A->G 10 118359461 118359461 A G snp 177.77 0/1 99 17 11 6 0.35 intronic PNLIPRP1 AU NM_001303135 exon9 c.8917-97A>G 0.110623 0.1498 Uncertain 10_118359548_T->C 10 118359548 118359548 T C snp 2596.77 1/1 99 92 0 92 1.0 intronic PNLIPRP1 AU NM_001303135 exon9 c.8917-10T>C 0.64397 0.9444 0.578733 0.6626 0.9601 Uncertain 10_118363642_T->C 10 118363642 118363642 T C snp 2530.77 1/1 99 87 0 87 1.0 exonic PNLIPRP1 AU synonymous SNV NM_001303135 exon11 c.T1164C p.S388S 0.70627 0.8988 0.663386 0.7192 0.9004 Uncertain 10_118363744_-->C 10 118363744 118363744 - C indel 219.73 0/1 99 12 4 8 0.67 intronic rs35096619 PNLIPRP1 AU NM_001303135 exon11 c.13009+94insC 0.1248 0.4107 Uncertain 10_118364818_G->T 10 118364818 118364818 G T snp 396.77 1/1 30 13 0 13 1.0 intronic rs562121046 PNLIPRP1 AU NM_001303135 exon12 c.14256-79G>T 0.70607 0.8988 Uncertain 10_118364842_A->G 10 118364842 118364842 A G snp 261.77 0/1 99 28 18 10 0.36 intronic PNLIPRP1 AU NM_001303135 exon12 c.14256-55A>G 0.580871 0.4881 Uncertain 10_118364967_G->C 10 118364967 118364967 G C snp 1607.77 0/1 99 161 93 68 0.42 exonic PNLIPRP1 AU nonsynonymous SNV NM_001303135 exon12 c.G1242C p.E414D 0.125399 0.4107 0.051745 0.0931 0.4318 0.54 T 1.000 P -0.961 T 0.0 T 0.001 T Pathogenic 10_118368493_C->A 10 118368493 118368493 C A snp 1939.77 0/1 99 159 76 83 0.52 intronic PNLIPRP1 AU NM_001303135 exon13 c.17923-71C>A 0.310104 0.5764 Uncertain 10_118368494_CAAAA->- 10 118368494 118368498 CAAAA - indel 4183.73 0/1 99 159 83 76 0.48 intronic rs201976882 PNLIPRP1 AU NM_001303135 exon13 c.17923-70_17923-66delCAAAA 0.121206 0.1518 Uncertain 10_118368606_T->C 10 118368606 118368606 T C snp 2712.77 0/1 99 248 132 116 0.47 exonic PNLIPRP1 AU nonsynonymous SNV NM_001303135 exon13 c.T1382C p.L461P 0.118011 0.1478 0.141243 0.1756 0.1332 0.05 T 0.996 P -1.033 T 1.0 D 0.99 D Pathogenic 10_118380345_C->T 10 118380345 118380345 C T snp 1235.77 1/1 90 40 0 40 1.0 upstream PNLIPRP2 AU 0.454273 0.869 Uncertain 10_118380387_A->G 10 118380387 118380387 A G snp 577.77 0/1 99 64 36 28 0.44 upstream PNLIPRP2 AU 0.118411 0.1448 Uncertain 10_118380511_A->G 10 118380511 118380511 A G snp 1653.77 1/1 99 55 0 55 1.0 intronic PNLIPRP2 AU NM_005396 exon1 c.3+21A>G 1 1 0.999918 1.0000 0.9998 Uncertain 10_118380701_G->A 10 118380701 118380701 G A snp 516.77 0/1 99 29 13 16 0.55 intronic PNLIPRP2 AU NM_005396 exon2 c.330-116G>A 0.0834665 0.2688 Uncertain 10_118380785_G->C 10 118380785 118380785 G C snp 1421.77 0/1 99 105 44 61 0.58 intronic PNLIPRP2 AU NM_005396 exon2 c.330-32G>C 0.0840655 0.2688 0.018346 0.0608 0.3030 Uncertain 10_118383382_C->T 10 118383382 118383382 C T snp 1225.77 0/1 99 88 37 51 0.58 intronic rs12256398 PNLIPRP2 AU NM_005396 exon3 c.2969-74C>T 0.13738 0.13 Uncertain 10_118383463_-->G 10 118383463 118383463 - G indel 6522.73 1/1 99 155 0 155 1.0 exonic rs56189579 PNLIPRP2 AU unknown 1 1 1.0000 1 Uncertain 10_118383703_C->T 10 118383703 118383703 C T snp 218.77 0/1 99 17 9 8 0.47 intronic PNLIPRP2 AU NM_005396 exon3 c.3123+93C>T 0.36242 0.5784 Uncertain 10_118386325_C->A 10 118386325 118386325 C A snp 692.77 0/1 99 66 36 30 0.45 intronic PNLIPRP2 AU NM_005396 exon5 c.5887-49C>A 0.361621 0.5784 0.304682 0.3526 0.5618 Uncertain 10_118387137_A->G 10 118387137 118387137 A G snp 56.77 0/1 85 15 12 3 0.2 intronic PNLIPRP2 AU NM_005396 exon6 c.6786-136A>G 0.682708 0.7202 Uncertain 10_118387148_C->T 10 118387148 118387148 C T snp 85.77 0/1 99 22 17 5 0.23 intronic rs12768167 PNLIPRP2 AU NM_005396 exon6 c.6786-125C>T 0.362819 0.5784 Uncertain 10_118387152_G->A 10 118387152 118387152 G A snp 92.77 0/1 99 22 17 5 0.23 intronic PNLIPRP2 AU NM_005396 exon6 c.6786-121G>A 0.362819 0.5784 Uncertain 10_118387282_A->G 10 118387282 118387282 A G snp 1207.77 0/1 99 137 76 61 0.45 exonic PNLIPRP2 AU unknown 0.36222 0.5784 0.280989 0.5104 0.6216 Uncertain 10_118387454_C->T 10 118387454 118387454 C T snp 116.77 0/1 99 9 4 5 0.56 intronic PNLIPRP2 AU NM_005396 exon6 c.6898+69C>T 0.123802 0.1349 Uncertain 10_118389690_A->G 10 118389690 118389690 A G snp 943.77 0/1 99 56 22 34 0.61 intronic PNLIPRP2 AU NM_005396 exon7 c.9086+117A>G 0.156749 0.1329 Uncertain 10_118391063_C->A 10 118391063 118391063 C A snp 95.77 0/1 99 15 11 4 0.27 intronic PNLIPRP2 AU NM_005396 exon8 c.10381+195C>A 0.370607 0.5804 Uncertain 10_118394551_G->C 10 118394551 118394551 G C snp 341.77 0/1 99 28 17 11 0.39 intronic PNLIPRP2 AU NM_005396 exon9 c.13983+81G>C 0.477037 0.2688 Uncertain 10_118396278_G->T 10 118396278 118396278 G T snp 359.77 0/1 99 29 16 13 0.45 intronic PNLIPRP2 AU NM_005396 exon10 c.15808-17G>T 0.478235 0.6409 0.5447 0.6602 Uncertain 10_118397884_A->G 10 118397884 118397884 A G snp 427.77 0/1 99 55 36 19 0.35 exonic PNLIPRP2 AU unknown 0.478435 0.2708 0.553402 0.5458 0.3851 Uncertain 10_118397894_A->G 10 118397894 118397894 A G snp 460.77 0/1 99 56 36 20 0.36 exonic PNLIPRP2 AU unknown 0.478435 0.2708 0.554673 0.5495 0.3971 1 T 0.0 P -0.939 T Uncertain 10_118397971_A->G 10 118397971 118397971 A G snp 676.77 0/1 99 64 33 31 0.48 exonic PNLIPRP2 AU unknown 0.305911 0.2698 0.341799 0.4220 0.3675 Uncertain 10_118398046_C->A 10 118398046 118398046 C A snp 480.77 0/1 99 38 19 19 0.5 intronic rs7910135 PNLIPRP2 AU NM_005396 exon11 c.17504+55C>A 0.477037 0.2708 Uncertain 10_118404620_A->G 10 118404620 118404620 A G snp 1837.77 0/1 99 151 70 81 0.54 UTR3 PNLIPRP2 AU 0.470847 0.2688 0.541112 0.4954 0.2624 Uncertain 10_118404700_G->A 10 118404700 118404700 G A snp 1496.77 0/1 99 126 60 66 0.52 downstream rs532593919 PNLIPRP2 AU 0.260783 0.127 Uncertain 10_118423572_G->A 10 118423572 118423572 G A snp 2461.77 0/1 99 179 80 99 0.55 UTR3 C10orf82 AU 0.195687 0.3442 0.1596 0.4621 Uncertain 10_118427645_G->A 10 118427645 118427645 G A snp 80.77 0/1 69 5 2 3 0.6 intronic C10orf82 AU NM_144661 exon4 c.4088-123G>A 0.457069 0.5258 Uncertain 10_118436068_G->T 10 118436068 118436068 G T snp 450.77 0/1 99 42 24 18 0.43 intronic HSPA12A AU NM_025015 exon2 c.1722+55G>T 0.629792 0.7272 Uncertain 10_118438982_G->A 10 118438982 118438982 G A snp 200.77 0/1 54 8 2 6 0.75 intronic HSPA12A AU NM_025015 exon3 c.4722-31G>A 0.0694888 0.2024 0.034362 0.0525 0.1981 Uncertain 10_118458305_C->T 10 118458305 118458305 C T snp 661.77 0/1 99 59 31 28 0.47 intronic HSPA12A AU NM_025015 exon8 c.23959+55C>T 0.0980431 0.2679 Uncertain 10_118460747_C->T 10 118460747 118460747 C T snp 118.77 0/1 99 11 5 6 0.55 intronic HSPA12A AU NM_025015 exon9 c.26349+107C>T 0.0902556 0.2688 Uncertain 10_118460791_A->G 10 118460791 118460791 A G snp 46.77 0/1 33 4 2 2 0.5 intronic HSPA12A AU NM_025015 exon9 c.26349+151A>G 0.0902556 0.2688 Uncertain 10_118466664_G->A 10 118466664 118466664 G A snp 214.88 1/1 16 11 1 10 0.91 intronic HSPA12A AU NM_025015 exon11 c.32419-46G>A 0.340056 0.4583 0.0458 0.0978 Uncertain 10_118501765_A->C 10 118501765 118501765 A C snp 713.77 1/1 51 29 0 29 1.0 intronic HSPA12A AU NM_025015 exon12 c.67649-175A>C 0.99381 1 Uncertain 10_118502055_G->C 10 118502055 118502055 G C snp 46.77 0/1 75 6 3 3 0.5 UTR5 HSPA12A AU 0.158946 0.1419 Uncertain 10_118616110_C->T 10 118616110 118616110 C T snp 2065.77 0/1 99 172 81 91 0.53 exonic rs7083543 ENO4 AU synonymous SNV NM_001242699 exon3 c.C402T p.A134A 0.366813 0.4454 0.2816 0.4948 Uncertain 10_118620459_A->C 10 118620459 118620459 A C snp 2846.77 0/1 99 250 133 117 0.47 exonic rs11197835 ENO4 AU synonymous SNV NM_001242699 exon5 c.A789C p.L263L 0.239617 0.0972 0.4161 0.0992 Uncertain 10_118628036_G->A 10 118628036 118628036 G A snp 337.77 0/1 99 21 10 11 0.52 intronic rs1637571 ENO4 AU NM_001242699 exon8 c.19083-124G>A 0.501198 0.4444 Uncertain 10_118628385_C->A 10 118628385 118628385 C A snp 80.77 0/1 99 6 3 3 0.5 intronic rs1637572 ENO4 AU NM_001242699 exon8 c.19140+168C>A 0.502396 0.4444 Uncertain 10_118633548_A->G 10 118633548 118633548 A G snp 2018.77 1/1 99 71 0 71 1.0 intronic rs1637574 ENO4 AU NM_001242699 exon10 c.24509-38A>G 0.999002 1 0.9998 1 Uncertain 10_118635605_C->G 10 118635605 118635605 C G snp 1986.77 0/1 99 173 92 81 0.47 exonic rs145012130 ENO4 AU nonsynonymous SNV NM_001242699 exon11 c.C1371G p.H457Q 0.00379393 0.0139 0.0012 0.0147 0.13 T 0.996 N -1.054 T 0.051 T 0.049 T Pathogenic 10_118643670_G->A 10 118643670 118643670 G A snp 1200.77 0/1 99 106 57 49 0.46 UTR3 rs2257791 KIAA1598 AU 0.697085 0.6984 Uncertain 10_118646129_G->C 10 118646129 118646129 G C snp 929.77 0/1 99 72 40 32 0.44 intronic rs2531685 KIAA1598 AU NM_018330 exon1 c.12+52G>C 0.506589 0.4474 0.575770 0.6600 0.4772 Uncertain 10_118667346_A->C 10 118667346 118667346 A C snp 2372.77 0/1 99 207 101 106 0.51 intronic rs2531690 KIAA1598 AU NM_001258299 exon3 c.6211+1088A>C 0.45028 0.4534 Uncertain 10_118704295_G->T 10 118704295 118704295 G T snp 56.74 1/1 6 2 0 2 1.0 intronic rs10787731 KIAA1598 AU NM_018330 exon8 c.58369-139G>T 0.882188 1 Uncertain 10_118708316_AGA->- 10 118708316 118708318 AGA - indel 2201.73 1/1 99 38 0 38 1.0 intronic rs10595325 KIAA1598 AU NM_018330 exon9 c.62361-110_62361-108delAGA 0.881989 1 Uncertain 10_118893882_C->T 10 118893882 118893882 C T snp 161.77 0/1 99 18 10 8 0.44 exonic rs554140675 VAX1 AR synonymous SNV NM_001112704 exon3 c.G642A p.L214L 0.000399361 0.0125 . Uncertain 10_118897607_C->A 10 118897607 118897607 C A snp 68.77 0/1 97 23 14 9 0.39 UTR5 rs369158710 VAX1 AR 0.380791 0.3651 0.0037 0 Uncertain 10_118897630_GGC->- 10 118897630 118897632 GGC - indel 276.74 1/1 26 10 0 10 1.0 UTR5 rs372806696 VAX1 AR Uncertain 10_118927196_C->G 10 118927196 118927196 C G snp 1271.77 0/1 99 115 59 56 0.49 ncRNA_exonic rs141296329 MIR3663 AU 0.0101837 0.0506 0.0013 0 Uncertain 10_118927371_G->T 10 118927371 118927371 G T snp 340.77 0/1 99 57 41 16 0.28 ncRNA_intronic rs117520659 MIR3663HG AU 0.0101837 0.0506 Uncertain 10_118927486_C->T 10 118927486 118927486 C T snp 212.84 1/1 18 6 0 6 1.0 ncRNA_intronic rs1638436 MIR3663HG AU 0.323682 0.1746 Uncertain 10_119001151_A->C 10 119001151 119001151 A C snp 269.8 1/1 21 9 0 9 1.0 intronic rs2619094 SLC18A2 AU 0.947684 1 Uncertain 10_119013076_G->A 10 119013076 119013076 G A snp 134.77 0/1 93 12 6 6 0.5 intronic SLC18A2 AU NM_003054 exon4 c.11764+108G>A Uncertain 10_119014023_C->T 10 119014023 119014023 C T snp 430.77 0/1 99 44 25 19 0.43 intronic rs2072362 SLC18A2 AU NM_003054 exon6 c.12804+15C>T 0.841054 0.7004 0.907427 0.8774 0.7034 Uncertain 10_119014931_C->T 10 119014931 119014931 C T snp 2535.77 0/1 99 195 90 105 0.54 intronic rs363420 SLC18A2 AU NM_003054 exon7 c.13673+54C>T 0.635383 0.4206 0.776172 Uncertain 10_119014948_C->A 10 119014948 119014948 C A snp 2199.77 0/1 99 161 71 90 0.56 intronic rs363343 SLC18A2 AU NM_003054 exon8 c.13785-41C>A 0.637979 0.4236 0.765032 0.7412 0.4029 Uncertain 10_119026401_T->C 10 119026401 119026401 T C snp 1897.77 1/1 99 57 0 57 1.0 intronic rs363266 SLC18A2 AU NM_003054 exon11 c.25118+79T>C 0.988019 1 Uncertain 10_119026566_T->C 10 119026566 119026566 T C snp 2465.77 1/1 99 90 0 90 1.0 intronic rs363227 SLC18A2 AU NM_003054 exon12 c.25342+20T>C 0.723642 0.5972 0.820852 0.8198 0.5868 Uncertain 10_119027123_C->A 10 119027123 119027123 C A snp 850.77 1/1 63 24 0 24 1.0 intronic rs363228 SLC18A2 AU NM_003054 exon13 c.25979-60C>A 0.721845 0.5962 0.823697 Uncertain 10_119027411_G->T 10 119027411 119027411 G T snp 576.77 1/1 45 18 0 18 1.0 intronic rs363271 SLC18A2 AU NM_003054 exon13 c.26043+164G>T 0.720048 0.5972 Uncertain 10_119029515_C->T 10 119029515 119029515 C T snp 1743.77 1/1 99 54 0 54 1.0 intronic rs363230 SLC18A2 AU NM_003054 exon14 c.28377-66C>T 0.467652 0.5327 Uncertain 10_119029744_G->A 10 119029744 119029744 G A snp 5649.77 1/1 99 194 0 194 1.0 intronic rs363272 SLC18A2 AU NM_003054 exon14 c.28497+43G>A 0.722843 0.5972 0.818622 0.8190 0.5861 Uncertain 10_119037009_A->C 10 119037009 119037009 A C snp 56.74 1/1 6 2 0 2 1.0 UTR3 rs10377 SLC18A2 AU 0.452077 0.5327 Uncertain 10_119042761_C->T 10 119042761 119042761 C T snp 4275.77 1/1 99 156 0 156 1.0 UTR3 rs363293 PDZD8 AU 0.946885 1 0.946486 0.9846 1 Uncertain 10_119305039_G->A 10 119305039 119305039 G A snp 80.77 0/1 99 6 3 3 0.5 intronic rs142080828 EMX2 AU NM_004098 exon2 c.2364-103G>A 0.00319489 0.0159 Uncertain 10_119307524_T->A 10 119307524 119307524 T A snp 908.77 1/1 66 27 0 27 1.0 intronic rs2240776 EMX2 AU NM_004098 exon3 c.4797-51T>A 0.458067 0.5417 0.525341 Uncertain 10_119793617_C->G 10 119793617 119793617 C G snp 241.77 0/1 99 32 19 13 0.41 intronic rs2928119 RAB11FIP2 AU NM_014904 exon3 c.29974-4865C>G 0.15635 0.4157 Uncertain 10_119793629_C->T 10 119793629 119793629 C T snp 741.77 1/1 54 25 0 25 1.0 intronic rs2928118 RAB11FIP2 AU NM_014904 exon3 c.29974-4853C>T 0.973243 1 Uncertain 10_119805684_T->C 10 119805684 119805684 T C snp 717.77 0/1 99 33 9 24 0.73 UTR5 rs2240778 RAB11FIP2 AU 0.159545 0.4732 0.047593 0.0885 0.4812 Uncertain 10_120070427_G->T 10 120070427 120070427 G T snp 201.77 0/1 99 27 15 12 0.44 intronic rs4751651 FAM204A AU NM_001134672 exon1 c.52+7G>T 0.41853 0.4464 0.430801 0.4739 0.4444 Uncertain 10_120070843_-->A 10 120070843 120070843 - A indel 489.73 1/1 54 22 0 22 1.0 intronic rs34120011 FAM204A AU NM_001134672 exon2 c.457+18insA 0.474641 0.4544 0.7384 0.6410 Uncertain 10_120081948_C->T 10 120081948 120081948 C T snp 3005.77 1/1 99 95 0 95 1.0 intronic rs853911 FAM204A AU NM_001134672 exon3 c.15297-3717C>T 0.994209 1 0.9993 1 Uncertain 10_120353910_T->C 10 120353910 120353910 T C snp 4571.77 1/1 99 151 0 151 1.0 exonic rs1613448 PRLHR AU nonsynonymous SNV NM_004248 exon2 c.A847G p.I283V 0.978035 1 0.979340 0.9945 1 1 T 0.000 P -0.945 T 0.0 T 0.0 T Pathogenic 10_120460715_G->T 10 120460715 120460715 G T snp 409.77 0/1 99 35 18 17 0.49 intronic rs2274314 CACUL1 AU NM_153810 exon5 c.15178-102G>T 0.513578 0.4762 Uncertain 10_120486027_C->G 10 120486027 120486027 C G snp 80.77 0/1 99 6 3 3 0.5 intronic rs4752191 CACUL1 AU NM_153810 exon7 c.43167-2779C>G 0.737021 0.6994 Uncertain 10_120789263_G->C 10 120789263 120789263 G C snp 43.77 0/1 66 4 2 2 0.5 UTR5 rs186808650 NANOS1 AD 0 . Uncertain 10_120796573_C->- 10 120796573 120796573 C - indel 396.73 0/1 99 39 17 22 0.56 intronic rs11336519 EIF3A AU NM_003750 exon2 c.1080-57delC 0.676118 0.6597 Uncertain 10_120803435_C->T 10 120803435 120803435 C T snp 52.77 0/1 81 11 8 3 0.27 intronic rs565922 EIF3A AU NM_003750 exon5 c.8015-130C>T 0.298722 0.4236 Uncertain 10_120803746_T->C 10 120803746 120803746 T C snp 425.77 0/1 99 31 12 19 0.61 intronic rs3740553 EIF3A AU NM_003750 exon5 c.8104+92T>C 0.492212 0.4603 Uncertain 10_120803788_T->C 10 120803788 120803788 T C snp 114.77 0/1 99 9 5 4 0.44 intronic rs658352 EIF3A AU NM_003750 exon5 c.8104+134T>C 0.298522 0.4236 Uncertain 10_120810623_A->C 10 120810623 120810623 A C snp 2141.77 0/1 99 151 65 86 0.57 intronic rs669964 EIF3A AU NM_003750 exon8 c.15160-87A>C 0.315296 0.4236 Uncertain 10_120817450_A->G 10 120817450 120817450 A G snp 3736.77 1/1 99 123 0 123 1.0 intronic rs10886375 EIF3A AU NM_003750 exon11 c.21917-17A>G 0.8127 0.8839 0.841409 0.9310 0.8882 Uncertain 10_120818609_C->T 10 120818609 120818609 C T snp 462.77 1/1 36 13 0 13 1.0 intronic rs6585524 EIF3A AU NM_003750 exon12 c.23173-114C>T 0.978035 1 Uncertain 10_120819453_A->G 10 120819453 120819453 A G snp 176.9 1/1 15 5 0 5 1.0 intronic rs10787901 EIF3A AU NM_003750 exon13 c.23680+223A>G 0.679513 0.877 Uncertain 10_120819458_T->C 10 120819458 120819458 T C snp 182.9 1/1 15 5 0 5 1.0 intronic rs10787902 EIF3A AU NM_003750 exon13 c.23680+228T>C 0.679513 0.877 Uncertain 10_120820224_C->A 10 120820224 120820224 C A snp 1133.77 1/1 84 38 0 38 1.0 intronic rs3740555 EIF3A AU NM_003750 exon14 c.24707-33C>A 0.809505 0.8839 0.840689 0.9285 0.8880 Uncertain 10_120820528_A->G 10 120820528 120820528 A G snp 169.9 1/1 15 5 0 5 1.0 intronic rs3824822 EIF3A AU NM_003750 exon14 c.24806+172A>G 0.778355 0.8958 Uncertain 10_120828969_A->G 10 120828969 120828969 A G snp 1418.77 1/1 99 50 0 50 1.0 exonic rs7908387 EIF3A AU synonymous SNV NM_003750 exon6 c.T939C p.D313D 0.790535 0.8829 0.818007 0.9238 0.8894 Uncertain 10_120832675_A->T 10 120832675 120832675 A T snp 170.9 1/1 15 5 0 5 1.0 intronic rs1397618 EIF3A AU NM_003750 exon19 c.37015+110A>T 0.807109 0.8839 Uncertain 10_120832872_T->C 10 120832872 120832872 T C snp 551.77 1/1 42 15 0 15 1.0 intronic rs1397616 EIF3A AU NM_003750 exon20 c.37402-80T>C 0.790735 0.8839 Uncertain 10_120864868_T->C 10 120864868 120864868 T C snp 687.77 1/1 51 24 0 24 1.0 ncRNA_intronic rs1511033 FAM45B XU 0.925519 0.9563 Uncertain 10_120865187_T->A 10 120865187 120865187 T A snp 94.77 0/1 99 11 7 4 0.36 ncRNA_intronic rs11198775 FAM45B XU 0.333067 0.4236 Uncertain 10_120876844_G->A 10 120876844 120876844 G A snp 114.77 0/1 66 6 2 4 0.67 ncRNA_intronic rs12774592 FAM45B XU 0.349241 0.3591 Uncertain 10_120889022_T->C 10 120889022 120889022 T C snp 1014.77 0/1 99 88 44 44 0.5 splicing rs3802739 FAM45A AU NM_001303113 exon6 c.17614-4T>C 0.279153 0.3919 0.325235 0.3691 0.3924 Pathogenic 10_120896027_G->A 10 120896027 120896027 G A snp 3983.77 1/1 99 178 13 165 0.93 exonic rs11198799 FAM45A AU synonymous SNV NM_001303113 exon8 c.G489A p.P163P 0.902356 0.9534 0.9637 0.9590 Uncertain 10_120905972_T->C 10 120905972 120905972 T C snp 842.77 0/1 99 53 26 27 0.51 intronic rs7075068 SFXN4 AR NM_213649 exon2 c.5112+107T>C Uncertain 10_120905972_-->GTGTGTGC 10 120905972 120905972 - GTGTGTGC indel 1674.73 0/1 99 53 24 29 0.55 intronic SFXN4 AR NM_213649 exon2 c.5112+107insGTGTGTGC Uncertain 10_120905975_A->G 10 120905975 120905975 A G snp 365.77 0/1 99 42 28 14 0.33 intronic rs61874341 SFXN4 AR NM_213649 exon2 c.5112+110A>G 0.312101 0.2688 Uncertain 10_120905976_-->GT 10 120905976 120905976 - GT indel 861.73 0/1 99 42 14 28 0.67 intronic rs33947324 SFXN4 AR NM_213649 exon2 c.5112+111insGT 0.519169 0.756 Uncertain 10_120914692_G->A 10 120914692 120914692 G A snp 2642.77 0/1 99 220 108 112 0.51 splicing rs17668734 SFXN4 AR NM_213649 exon4 c.13936+3G>A 0.266374 0.1796 0.284253 0.3261 0.1694 Pathogenic 10_120916467_A->G 10 120916467 120916467 A G snp 155.77 0/1 99 10 4 6 0.6 intronic rs2297696 SFXN4 AR NM_213649 exon5 c.15515+199A>G 0.267772 0.1776 Uncertain 10_120917269_A->T 10 120917269 120917269 A T snp 2295.77 1/1 99 79 0 79 1.0 intronic rs2420494 SFXN4 AR NM_213649 exon6 c.16492+24A>T 0.983626 1 0.984392 0.9955 1 Uncertain 10_120917445_G->A 10 120917445 120917445 G A snp 3513.77 0/1 99 250 107 143 0.57 splicing rs2275111 SFXN4 AR NM_213649 exon7 c.16686+6G>A 0.509984 0.7123 0.482393 0.4963 0.7186 Pathogenic 10_120917616_G->A 10 120917616 120917616 G A snp 1773.77 0/1 99 160 89 71 0.44 intronic rs2275112 SFXN4 AR NM_213649 exon8 c.16821+42G>A 0.266973 0.1746 0.288482 0.3344 0.1686 Uncertain 10_120919179_G->A 10 120919179 120919179 G A snp 1873.77 0/1 99 160 79 81 0.51 intronic rs3740558 SFXN4 AR NM_213649 exon9 c.18486-60G>A 0.508187 0.7163 0.479632 Uncertain 10_120919246_T->C 10 120919246 120919246 T C snp 5754.77 1/1 99 211 0 211 1.0 exonic rs2181118 SFXN4 AR synonymous SNV NM_213649 exon6 c.A354G p.A118A 0.983027 1 0.982162 0.9950 1 Uncertain 10_120920588_T->C 10 120920588 120920588 T C snp 1113.77 0/1 99 96 48 48 0.5 exonic rs10749291 SFXN4 AR synonymous SNV NM_213649 exon4 c.A258G p.Q86Q 0.494409 0.7163 0.466861 0.4819 0.7196 Uncertain 10_120922017_T->C 10 120922017 120922017 T C snp 1859.77 0/1 99 171 92 79 0.46 intronic rs12413842 SFXN4 AR NM_213649 exon12 c.21173+91T>C 0.279553 0.1716 Uncertain 10_120924874_G->C 10 120924874 120924874 G C snp 3045.77 1/1 99 111 0 111 1.0 intronic rs933092 SFXN4 AR NM_213649 exon14 c.24295-174G>C 0.995607 1 Uncertain 10_120928938_C->T 10 120928938 120928938 C T snp 112.77 0/1 99 31 25 6 0.19 intronic rs2271362 PRDX3 AU NM_006793 exon2 c.863+84C>T 0.315895 0.494 Uncertain 10_120933324_G->A 10 120933324 120933324 G A snp 1053.77 1/1 75 39 0 39 1.0 exonic rs3758609 PRDX3 AU synonymous SNV NM_001302272 exon4 c.C372T p.D124D 0.953275 0.9127 0.975165 0.9732 0.9203 Uncertain 10_120936701_G->A 10 120936701 120936701 G A snp 99.28 1/1 9 3 0 3 1.0 intronic rs3740562 PRDX3 AU NM_001302272 exon5 c.8666+36G>A 0.395367 0.5536 0.376828 0.3267 0.5592 Uncertain 10_121093160_A->C 10 121093160 121093160 A C snp 1769.77 1/1 99 69 0 69 1.0 intronic rs10886461 GRK5 AU NM_005308 exon2 c.118694+7037A>C 0.992212 1 Uncertain 10_121140511_A->G 10 121140511 121140511 A G snp 2048.77 1/1 99 71 0 71 1.0 intronic rs4751714 GRK5 AU NM_005308 exon3 c.173010+72A>G 0.92492 0.998 Uncertain 10_121140534_C->G 10 121140534 121140534 C G snp 661.77 0/1 99 53 27 26 0.49 intronic rs2275037 GRK5 AU NM_005308 exon3 c.173010+95C>G 0.860024 0.8611 Uncertain 10_121156139_G->C 10 121156139 121156139 G C snp 495.77 0/1 99 44 20 24 0.55 intronic rs3781495 GRK5 AU NM_005308 exon4 c.188777-67G>C 0.0682907 0.1687 Uncertain 10_121184709_T->A 10 121184709 121184709 T A snp 459.77 0/1 99 29 11 18 0.62 intronic rs3740564 GRK5 AU NM_005308 exon6 c.217168+112T>A 0.175919 0.1508 Uncertain 10_121190040_C->G 10 121190040 121190040 C G snp 376.77 0/1 99 31 15 16 0.52 intronic rs10787967 GRK5 AU NM_005308 exon7 c.222521+90C>G 0.326278 0.1667 Uncertain 10_121190113_T->C 10 121190113 121190113 T C snp 124.77 0/1 99 10 4 6 0.6 intronic rs915120 GRK5 AU NM_005308 exon7 c.222521+163T>C 0.509984 0.5317 Uncertain 10_121190846_G->A 10 121190846 121190846 G A snp 1111.77 0/1 99 84 40 44 0.52 intronic rs2275038 GRK5 AU NM_005308 exon8 c.223469-52G>A 0.127396 0.1468 Uncertain 10_121191186_C->A 10 121191186 121191186 C A snp 50.74 1/1 6 2 0 2 1.0 intronic rs7099478 GRK5 AU NM_005308 exon8 c.223610+147C>A 0.533147 0.3115 Uncertain 10_121196035_T->G 10 121196035 121196035 T G snp 361.77 1/1 30 10 0 10 1.0 intronic rs2275039 GRK5 AU NM_005308 exon9 c.228733-127T>G 0.513379 0.2222 Uncertain 10_121196062_C->T 10 121196062 121196062 C T snp 223.77 0/1 99 17 8 9 0.53 intronic rs2275040 GRK5 AU NM_005308 exon9 c.228733-100C>T 0.295927 0.1647 Uncertain 10_121196264_C->T 10 121196264 121196264 C T snp 1857.77 0/1 99 145 64 81 0.56 exonic rs2230348 GRK5 AU synonymous SNV NM_005308 exon9 c.C840T p.N280N 0.0892572 0.0575 0.065816 0.0359 0.0606 Uncertain 10_121199189_T->C 10 121199189 121199189 T C snp 3995.77 1/1 99 141 0 141 1.0 intronic rs2245364 GRK5 AU NM_005308 exon10 c.231813-53T>C 0.869808 0.7163 0.913272 Uncertain 10_121199310_T->C 10 121199310 121199310 T C snp 1581.77 0/1 99 172 100 72 0.42 intronic rs1109490 GRK5 AU NM_005308 exon10 c.231851+30T>C 0.325479 0.1657 0.420191 0.4416 0.1691 Uncertain 10_121199365_T->C 10 121199365 121199365 T C snp 844.77 0/1 99 89 56 33 0.37 intronic rs1109489 GRK5 AU NM_005308 exon10 c.231851+85T>C 0.325679 0.1657 Uncertain 10_121199437_T->C 10 121199437 121199437 T C snp 807.77 1/1 60 24 0 24 1.0 intronic rs915116 GRK5 AU NM_005308 exon10 c.231851+157T>C 0.997604 1 Uncertain 10_121201616_C->T 10 121201616 121201616 C T snp 1337.77 0/1 99 104 51 53 0.51 intronic rs2275043 GRK5 AU NM_005308 exon11 c.234171+16C>T 0.220647 0.1538 0.187913 0.1636 0.1622 Uncertain 10_121201626_T->C 10 121201626 121201626 T C snp 1359.77 0/1 99 98 48 50 0.51 intronic rs2275044 GRK5 AU NM_005308 exon11 c.234171+26T>C 0.746206 0.8462 0.778487 0.8264 0.8365 Uncertain 10_121207895_G->A 10 121207895 121207895 G A snp 670.77 1/1 51 17 0 17 1.0 intronic rs4752312 GRK5 AU NM_005308 exon13 c.240343+123G>A 0.995807 1 Uncertain 10_121259878_T->C 10 121259878 121259878 T C snp 143.03 1/1 12 5 0 5 1.0 intronic rs756280 RGS10 AU NM_002925 exon1 c.147+107T>C 0.919728 0.8165 Uncertain 10_121259879_G->A 10 121259879 121259879 G A snp 101.28 1/1 9 4 0 4 1.0 intronic rs756279 RGS10 AU NM_002925 exon1 c.147+108G>A 0.778954 0.623 Uncertain 10_121287019_G->A 10 121287019 121287019 G A snp 772.77 1/1 57 29 0 29 1.0 intronic rs3009921 RGS10 AU NM_002925 exon4 c.27312+83G>A 0.991613 1 Uncertain 10_121337147_T->C 10 121337147 121337147 T C snp 3215.74 0/1 99 250 125 125 0.5 splicing rs565110942 TIAL1 AU NM_003252 exon5 c.1976-5T>C 0.000399361 0.002 8.246e-05 0.0012 Pathogenic 10_121338401_T->A 10 121338401 121338401 T A snp 2805.77 1/1 99 92 0 92 1.0 intronic rs4752334 TIAL1 AU NM_003252 exon6 c.3170+55T>A 0.997604 1 Uncertain 10_121347840_TTTC->- 10 121347840 121347843 TTTC - indel 385.74 1/1 27 33 0 33 1.0 intronic rs146020828 TIAL1 AU NM_003252 exon11 c.12584+80_12584+83delTTTC 0.524561 0.2698 Uncertain 10_121417338_T->G 10 121417338 121417338 T G snp 44.77 0/1 72 5 2 3 0.6 intronic rs3847489 BAG3 AD NM_004281 exon1 c.180+5971T>G 0.334065 0.3571 Uncertain 10_121429256_A->G 10 121429256 121429256 A G snp 394.77 0/1 99 29 13 16 0.55 intronic rs2240777 BAG3 AD NM_004281 exon2 c.18175-106A>G 0.185304 0.2609 Uncertain 10_121429762_C->G 10 121429762 121429762 C G snp 37.77 0/1 66 6 4 2 0.33 intronic rs196326 BAG3 AD NM_004281 exon2 c.18502+73C>G 0.717851 0.5169 Uncertain 10_121435955_A->C 10 121435955 121435955 A C snp 894.77 0/1 99 90 53 37 0.41 intronic rs196294 BAG3 AD NM_004281 exon4 c.24788-20A>C 0.635184 0.4633 0.720163 0.6767 0.5015 Uncertain 10_121436068_T->G 10 121436068 121436068 T G snp 1897.77 0/1 99 173 83 90 0.52 exonic rs3858339 BAG3 AD synonymous SNV NM_004281 exon4 c.T1002G p.P334P 0.155751 0.254 0.116100 0.1144 0.2703 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=criteria_provided\x2c_multiple_submitters\x2c_no_conflicts|criteria_provided\x2c_single_submitter;CLNACC=RCV000037883.5|RCV000123815.1;CLNDSDB=MedGen|MedGen;CLNDSDBID=CN169374|CN221809 Uncertain 10_121436286_C->T 10 121436286 121436286 C T snp 917.77 0/1 99 66 27 39 0.59 exonic rs3858340 BAG3 AD nonsynonymous SNV NM_004281 exon4 c.C1220T p.P407L 0.155551 0.253 0.115716 0.1141 0.2691 0.06 T 0.774 P -1.093 T 0.191 T 0.1 T CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=criteria_provided\x2c_multiple_submitters\x2c_no_conflicts|criteria_provided\x2c_single_submitter;CLNACC=RCV000037885.6|RCV000123816.1;CLNDSDB=MedGen|MedGen;CLNDSDBID=CN169374|CN221809 ID=CM1111345;DIS=Cardiomyopathy, dilated, increased risk;TAG=DP;PUB=21459883 DP Pathogenic 10_121436362_A->G 10 121436362 121436362 A G snp 1461.77 0/1 99 102 43 59 0.58 exonic rs196295 BAG3 AD synonymous SNV NM_004281 exon4 c.A1296G p.V432V 0.70647 0.4881 0.770337 0.7409 0.5208 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=criteria_provided\x2c_multiple_submitters\x2c_no_conflicts|criteria_provided\x2c_single_submitter;CLNACC=RCV000037886.5|RCV000123817.1;CLNDSDB=MedGen|MedGen;CLNDSDBID=CN169374|CN221809 Uncertain 10_121564859_A->G 10 121564859 121564859 A G snp 484.77 1/1 36 17 0 17 1.0 intronic rs2273748 INPP5F AU NM_014937 exon11 c.79121-36A>G 0.273363 0.5466 0.234692 0.3119 0.5951 Uncertain 10_121565015_C->G 10 121565015 121565015 C G snp 1962.77 1/1 99 78 0 78 1.0 intronic rs2273749 INPP5F AU NM_014937 exon11 c.79199+42C>G 0.273363 0.5466 0.234697 0.2920 0.5694 Uncertain 10_121579040_T->C 10 121579040 121579040 T C snp 3906.77 1/1 99 143 1 142 0.99 exonic rs17099318 INPP5F AU synonymous SNV NM_001243194 exon1 c.T45C p.F15F 0.112021 0.1746 0.041870 0.1010 0.1987 Uncertain 10_121582556_T->C 10 121582556 121582556 T C snp 2196.77 0/1 99 173 81 92 0.53 intronic rs2289307 INPP5F AU NM_001243194 exon4 c.3587-26T>C 0.269968 0.1796 0.311395 0.2943 0.1956 Uncertain 10_121583464_-->A 10 121583464 121583464 - A indel 884.73 0/1 99 60 30 30 0.5 intronic rs35535788 INPP5F AU NM_001243194 exon5 c.4419+50insA 0.116613 0.1905 0.039623 0.0903 0.1882 Uncertain 10_121586827_A->G 10 121586827 121586827 A G snp 2573.77 0/1 99 230 129 101 0.44 exonic rs56055506 INPP5F AU synonymous SNV NM_001243194 exon6 c.A1104G p.R368R 0.212061 0.1915 0.159926 0.2024 0.1898 Uncertain 10_121586882_A->G 10 121586882 121586882 A G snp 3125.77 0/1 99 250 127 123 0.49 exonic rs3188055 INPP5F AU nonsynonymous SNV NM_001243194 exon6 c.A1159G p.N387D 0.26897 0.1796 0.308550 0.2927 0.1948 0.22 T 0.000 P -0.987 T 0.0 T 0.001 T Pathogenic 10_121591140_A->C 10 121591140 121591140 A C snp 1684.77 0/1 99 116 48 68 0.59 intronic rs140662514 MCMBP AU NM_001256378 exon1 c.127+28A>C 0.00139776 0.0069 0.0005 0.0067 Uncertain 10_121591511_G->A 10 121591511 121591511 G A snp 2459.77 0/1 99 234 121 113 0.48 intronic rs2273747 MCMBP AU NM_001256378 exon2 c.538-12G>A 0.214856 0.1905 0.162925 0.2031 0.1891 Uncertain 10_121596611_C->T 10 121596611 121596611 C T snp 1233.77 0/1 99 66 26 40 0.61 intronic rs3765508 MCMBP AU NM_001256378 exon4 c.5556+70C>T 0.115615 0.1895 Uncertain 10_121602732_C->T 10 121602732 121602732 C T snp 3497.77 0/1 99 245 103 142 0.58 intronic rs17099338 MCMBP AU NM_024834 exon8 c.11774-27C>T 0.115615 0.1895 0.040674 0.0906 0.1871 Uncertain 10_121602949_G->A 10 121602949 121602949 G A snp 965.77 0/1 99 69 36 33 0.48 intronic rs3740565 MCMBP AU NM_001256378 exon8 c.11953+11G>A 0.115615 0.1895 0.040597 0.0928 0.1916 Uncertain 10_121607015_C->T 10 121607015 121607015 C T snp 46.77 0/1 72 6 3 3 0.5 intronic rs3740567 MCMBP AU NM_001256378 exon9 c.16139-109C>T 0.115016 0.1895 Uncertain 10_121607024_G->A 10 121607024 121607024 G A snp 82.77 0/1 99 8 4 4 0.5 intronic rs3740568 MCMBP AU NM_001256378 exon9 c.16139-100G>A 0.115615 0.1895 Uncertain 10_121607324_C->T 10 121607324 121607324 C T snp 477.77 0/1 99 29 13 16 0.55 intronic rs17099343 MCMBP AU NM_001256378 exon9 c.16240+99C>T 0.210463 0.1905 Uncertain 10_121612837_G->A 10 121612837 121612837 G A snp 86.77 0/1 28 4 1 3 0.75 intronic rs17099349 MCMBP AU NM_001256378 exon11 c.21721+131G>A 0.115815 0.1895 Uncertain 10_121618382_T->A 10 121618382 121618382 T A snp 187.77 0/1 99 20 12 8 0.4 intronic rs34469768 MCMBP AU NM_001256378 exon13 c.27410-13T>A 0.0940495 0.1865 0.037707 0.0828 0.1876 Uncertain 10_121632120_A->T 10 121632120 121632120 A T snp 706.77 0/1 99 66 35 31 0.47 UTR5 rs11556853 MCMBP AU 0.115615 0.1895 0.032747 0.0843 0.125 Uncertain 10_121668501_C->A 10 121668501 121668501 C A snp 700.77 0/1 99 64 33 31 0.48 intronic rs3740569 SEC23IP AU NM_007190 exon5 c.16258-51C>A 0.117212 0.1984 0.040493 Uncertain 10_121668656_T->G 10 121668656 121668656 T G snp 513.77 0/1 99 34 12 22 0.65 intronic rs3740570 SEC23IP AU NM_007190 exon5 c.16348+14T>G 0.113818 0.1974 0.039449 0.0920 0.1955 Uncertain 10_121671651_T->C 10 121671651 121671651 T C snp 2424.77 0/1 99 206 102 104 0.5 exonic rs17099368 SEC23IP AU synonymous SNV NM_007190 exon6 c.T1287C p.D429D 0.116813 0.1994 0.039443 0.0905 0.1909 Uncertain 10_121678146_T->G 10 121678146 121678146 T G snp 448.77 0/1 99 34 17 17 0.5 intronic rs41300221 SEC23IP AU NM_007190 exon10 c.25729+123T>G 0.117212 0.1984 Uncertain 10_121678896_C->G 10 121678896 121678896 C G snp 673.77 0/1 99 36 13 23 0.64 intronic rs2475300 SEC23IP AU NM_007190 exon11 c.26661-59C>G 0.751198 0.8363 Uncertain 10_121679013_A->G 10 121679013 121679013 A G snp 2225.77 0/1 99 193 92 101 0.52 exonic rs2475298 SEC23IP AU nonsynonymous SNV NM_007190 exon11 c.A1930G p.K644E 0.751398 0.8363 0.708519 0.7164 0.8177 1 T 0.000 P -0.966 T 0.0 T 0.001 T Pathogenic 10_121680359_A->G 10 121680359 121680359 A G snp 1188.77 0/1 99 88 41 47 0.53 intronic rs2271123 SEC23IP AU NM_007190 exon12 c.28106-41A>G 0.116613 0.1984 0.039597 0.0908 0.1934 Uncertain 10_121685448_A->T 10 121685448 121685448 A T snp 93.77 0/1 99 18 14 4 0.22 intronic rs6585564 SEC23IP AU NM_007190 exon13 c.33253-99A>T 0.647165 0.8353 Uncertain 10_121685559_G->A 10 121685559 121685559 G A snp 950.77 0/1 99 125 82 43 0.34 exonic rs12771873 SEC23IP AU synonymous SNV NM_007190 exon13 c.G2133A p.A711A 0.119209 0.2113 0.039443 0.0975 0.2145 Uncertain 10_121692777_A->G 10 121692777 121692777 A G snp 185.77 0/1 99 14 7 7 0.5 intronic rs2279940 SEC23IP AU NM_007190 exon17 c.40385+98A>G 0.11861 0.1984 Uncertain 10_121693246_A->G 10 121693246 121693246 A G snp 1276.77 0/1 99 102 47 55 0.54 exonic rs34826964 SEC23IP AU synonymous SNV NM_007190 exon18 c.A2970G p.T990T 0.116613 0.1984 0.039443 0.0923 0.1913 Uncertain 10_121717932_G->A 10 121717932 121717932 G A snp 220.77 0/1 99 14 6 8 0.57 upstream rs11199132 MIR4682 AU 0.376597 0.6032 Uncertain 10_121717957_T->- 10 121717957 121717957 T - indel 241.73 0/1 99 21 9 12 0.57 upstream rs34665773 MIR4682 AU 0.79373 0.7202 Uncertain 10_121718112_C->T 10 121718112 121718112 C T snp 318.77 0/1 99 56 36 20 0.36 downstream rs11199134 MIR4682 AU 0.444489 0.6081 0.6304 . Uncertain 10_122216790_A->T 10 122216790 122216790 A T snp 1100.77 0/1 99 97 48 49 0.51 UTR5 rs10886691 PPAPDC1A AU 0.694688 0.625 0.744642 0.7380 0.6562 Uncertain 10_122216862_C->T 10 122216862 122216862 C T snp 2315.77 0/1 99 215 111 104 0.48 exonic rs67319648 PPAPDC1A AU synonymous SNV NM_001030059 exon1 c.C45T p.F15F 0.195887 0.2986 0.163081 0.2098 0.3004 Uncertain 10_122263459_C->T 10 122263459 122263459 C T snp 1296.77 0/1 99 136 78 58 0.43 intronic rs201144884 PPAPDC1A AU NM_001030059 exon2 c.46621+21C>T 0.00119808 0.006 0.0005 0.0071 Uncertain 10_122263555_A->T 10 122263555 122263555 A T snp 671.77 1/1 51 20 0 20 1.0 intronic rs2478418 PPAPDC1A AU NM_001030059 exon2 c.46621+117A>T 0.69988 0.7421 Uncertain 10_122273277_T->- 10 122273277 122273277 T - indel 561.73 1/1 42 26 3 23 0.88 intronic rs398014952 PPAPDC1A AU NM_001030059 exon3 c.56605-145delT 0.871605 0.9345 Uncertain 10_122273287_G->- 10 122273287 122273287 G - indel 198.73 0/1 99 28 15 13 0.46 intronic rs200326196 PPAPDC1A AU NM_001030059 exon3 c.56605-135delG Uncertain 10_122273291_G->T 10 122273291 122273291 G T snp 43.77 0/1 72 34 28 6 0.18 intronic PPAPDC1A AU NM_001030059 exon3 c.56605-131G>T Uncertain 10_122334561_C->T 10 122334561 122334561 C T snp 3362.77 1/1 99 104 0 104 1.0 intronic rs4751791 PPAPDC1A AU NM_001030059 exon6 c.117825-81C>T 0.295727 0.3998 Uncertain 10_122340190_-->ACACAA 10 122340190 122340190 - ACACAA indel 301.75 1/1 24 8 0 8 1.0 intronic rs59076083 PPAPDC1A AU NM_001030059 exon6 c.117996+5377insACACAA Uncertain 10_122618148_G->C 10 122618148 122618148 G C snp 1470.77 0/1 99 107 44 63 0.59 ncRNA_intronic rs2241846 MIR5694 AU 0.184305 0.3472 0.142857 0.1970 0.3462 Uncertain 10_122619467_ACAC->- 10 122619467 122619470 ACAC - indel 621.73 1/1 33 12 0 12 1.0 ncRNA_intronic rs68180664 MIR5694 AU Uncertain 10_122622121_A->C 10 122622121 122622121 A C snp 56.74 1/1 6 2 0 2 1.0 ncRNA_intronic rs3816173 MIR5694 AU 0.646965 0.5179 Uncertain 10_122624679_G->A 10 122624679 122624679 G A snp 4702.77 1/1 99 170 0 170 1.0 exonic rs10886789 WDR11 AD synonymous SNV NM_018117 exon6 c.G834A p.T278T 0.322883 0.4177 0.282793 0.3419 0.4230 Uncertain 10_122626038_C->T 10 122626038 122626038 C T snp 3079.77 1/1 99 114 0 114 1.0 ncRNA_intronic rs2289335 MIR5694 AU 0.326478 0.4177 0.282605 0.3368 0.4240 Uncertain 10_122626527_G->A 10 122626527 122626527 G A snp 725.77 0/1 99 51 23 28 0.55 ncRNA_intronic rs138817330 MIR5694 AU 0.0107827 0.0437 0.000385 0.0079 0.0480 Uncertain 10_122633607_C->G 10 122633607 122633607 C G snp 50.74 1/1 6 2 0 2 1.0 ncRNA_intronic rs7080550 MIR5694 AU 0.402157 0.4177 Uncertain 10_122638073_T->A 10 122638073 122638073 T A snp 339.78 1/1 27 10 0 10 1.0 ncRNA_intronic rs1992274 MIR5694 AU 0.329073 0.4177 Uncertain 10_122640243_T->A 10 122640243 122640243 T A snp 312.78 1/1 24 10 0 10 1.0 ncRNA_intronic rs4751805 MIR5694 AU 0.395367 0.4177 Uncertain 10_122643597_C->A 10 122643597 122643597 C A snp 1350.77 1/1 99 47 0 47 1.0 ncRNA_intronic rs4752469 MIR5694 AU 0.395367 0.4177 Uncertain 10_122643699_G->C 10 122643699 122643699 G C snp 2935.77 1/1 99 114 0 114 1.0 ncRNA_intronic rs4752470 MIR5694 AU 0.395767 0.4187 Uncertain 10_122645376_A->T 10 122645376 122645376 A T snp 2576.77 1/1 99 99 0 99 1.0 exonic rs7899928 WDR11 AD synonymous SNV NM_018117 exon15 c.A1899T p.A633A 0.395567 0.4177 0.364447 0.3637 0.4238 Uncertain 10_122646113_C->T 10 122646113 122646113 C T snp 424.77 1/1 33 13 0 13 1.0 ncRNA_intronic rs7079527 MIR5694 AU 0.395367 0.4177 Uncertain 10_122646126_G->A 10 122646126 122646126 G A snp 512.77 1/1 42 18 1 17 0.94 ncRNA_intronic rs7079781 MIR5694 AU 0.329073 0.4177 Uncertain 10_122646160_-->A 10 122646160 122646160 - A indel 1181.73 1/1 99 44 1 43 0.98 ncRNA_intronic rs11395714 MIR5694 AU 0.397764 0.4147 0.364297 0.3714 0.4243 Uncertain 10_122646379_A->G 10 122646379 122646379 A G snp 3097.77 1/1 99 105 0 105 1.0 ncRNA_intronic rs7079830 MIR5694 AU 0.395567 0.4177 0.364293 0.3643 0.4257 Uncertain 10_122648750_-->TTTTGTTTTG 10 122648750 122648750 - TTTTGTTTTG indel 1588.73 1/1 48 47 0 47 1.0 ncRNA_intronic rs141904743 MIR5694 AU 0.27516 0.3899 Uncertain 10_122649240_A->G 10 122649240 122649240 A G snp 61.77 0/1 90 10 7 3 0.3 ncRNA_intronic rs139841762 MIR5694 AU 0.0107827 0.0437 Uncertain 10_122659490_C->T 10 122659490 122659490 C T snp 1442.77 1/1 99 51 0 51 1.0 ncRNA_intronic rs2289336 MIR5694 AU 0.393371 0.4177 0.356659 0.3565 0.4216 Uncertain 10_122660701_C->T 10 122660701 122660701 C T snp 174.9 1/1 15 7 0 7 1.0 ncRNA_intronic rs11199635 MIR5694 AU 0.395567 0.4177 Uncertain 10_122663585_G->A 10 122663585 122663585 G A snp 1751.77 1/1 99 70 0 70 1.0 exonic rs1652727 WDR11 AD synonymous SNV NM_018117 exon24 c.G2958A p.L986L 0.676518 0.5179 0.723820 0.6644 0.5284 Uncertain 10_122664388_C->T 10 122664388 122664388 C T snp 3494.77 1/1 99 122 0 122 1.0 ncRNA_intronic rs10886798 MIR5694 AU 0.392772 0.4177 Uncertain 10_122664694_G->A 10 122664694 122664694 G A snp 99.28 1/1 9 3 0 3 1.0 ncRNA_intronic rs10788127 MIR5694 AU 0.640176 0.5179 Uncertain 10_122664967_C->T 10 122664967 122664967 C T snp 1582.77 1/1 99 63 0 63 1.0 ncRNA_intronic rs1866516 MIR5694 AU 0.644768 0.5149 0.661925 0.6015 0.5226 Uncertain 10_122665285_A->C 10 122665285 122665285 A C snp 836.77 1/1 60 29 0 29 1.0 ncRNA_intronic rs1652726 MIR5694 AU 0.989018 1 Uncertain 10_122665310_T->A 10 122665310 122665310 T A snp 1532.77 1/1 99 51 0 51 1.0 ncRNA_intronic rs3740306 MIR5694 AU 0.329473 0.4177 Uncertain 10_122665459_C->G 10 122665459 122665459 C G snp 1188.77 0/1 99 119 66 53 0.45 exonic rs3740307 WDR11 AD synonymous SNV NM_018117 exon27 c.C3363G p.V1121V 0.155152 0.3373 0.096417 0.1497 0.3438 Uncertain 10_122667939_C->T 10 122667939 122667939 C T snp 802.77 0/1 99 40 14 26 0.65 ncRNA_intronic rs78898484 MIR5694 AU 0.0213658 0.0456 Uncertain 10_122668296_G->A 10 122668296 122668296 G A snp 133.03 1/1 12 4 0 4 1.0 ncRNA_intronic rs7077126 MIR5694 AU 0.401558 0.4177 Uncertain 10_123239112_G->A 10 123239112 123239112 G A snp 1472.77 0/1 99 178 102 76 0.43 UTR3 rs1047057 FGFR2 AR,AD,AU 0.414337 0.3512 0.434516 0.5311 0.3866 Uncertain 10_123241496_T->C 10 123241496 123241496 T C snp 296.78 1/1 24 8 0 8 1.0 intronic rs1649167 FGFR2 AR,AD,AU NM_022970 exon2 c.3841-1715T>C 0.986422 1 Uncertain 10_123241794_C->T 10 123241794 123241794 C T snp 1295.77 0/1 99 88 36 52 0.59 intronic rs2556537 FGFR2 AR,AD,AU NM_001144913 exon1 c.6+103C>T 0.442692 0.6468 Uncertain 10_123243197_G->A 10 123243197 123243197 G A snp 757.77 0/1 99 53 24 29 0.55 intronic rs2278202 FGFR2 AR,AD,AU NM_022970 exon2 c.3841-14G>A 0.423123 0.3333 0.454406 0.5614 0.3677 ID=COSN163794;OCCURENCE=1(breast) Uncertain 10_123247037_C->T 10 123247037 123247037 C T snp 78.77 0/1 99 16 10 6 0.38 intronic rs2981461 FGFR2 AR,AD,AU NM_022970 exon4 c.7568+99C>T 0.424121 0.3036 Uncertain 10_123247044_T->C 10 123247044 123247044 T C snp 75.77 0/1 99 15 9 6 0.4 intronic rs2981460 FGFR2 AR,AD,AU NM_022970 exon4 c.7568+106T>C 0.589457 0.3353 Uncertain 10_123277742_C->T 10 123277742 123277742 C T snp 471.77 1/1 36 12 0 12 1.0 intronic rs2420942 FGFR2 AR,AD,AU NM_022970 exon11 c.38825-453C>T 0.902157 1 Uncertain 10_123279745_C->T 10 123279745 123279745 C T snp 281.78 1/1 24 8 0 8 1.0 intronic rs2981448 FGFR2 AR,AD,AU NM_022970 exon12 c.40313+62C>T 0.886382 1 Uncertain 10_123298158_T->C 10 123298158 123298158 T C snp 3939.77 1/1 99 138 0 138 1.0 exonic rs1047100 FGFR2 AR,AD,AU synonymous SNV NM_000141 exon6 c.A696G p.V232V 0.795327 0.9355 0.766723 0.7797 0.9234 Uncertain 10_123549691_T->G 10 123549691 123549691 T G snp 2276.77 1/1 99 82 0 82 1.0 exonic rs35350755 ATE1 AU synonymous SNV NM_001001976 exon11 c.A1371C p.P457P 0.501597 0.5387 0.456482 0.4694 0.5589 Uncertain 10_123596254_T->C 10 123596254 123596254 T C snp 626.77 1/1 45 26 0 26 1.0 exonic rs4237536 ATE1 AU synonymous SNV NM_001001976 exon10 c.A1236G p.S412S 0.889177 0.9256 0.909707 0.8979 0.9300 1.000 P -1.024 T Likely benign 10_123658228_G->A 10 123658228 123658228 G A snp 75.77 0/1 99 6 3 3 0.5 intronic rs10788221 ATE1 AU NM_007041 exon6 c.155161-127G>A 0.296725 0.2966 Uncertain 10_123658618_T->C 10 123658618 123658618 T C snp 56.74 1/1 6 2 0 2 1.0 intronic rs3750835 ATE1 AU NM_007041 exon6 c.155290+134T>C 0.898762 0.9276 Uncertain 10_123673206_C->T 10 123673206 123673206 C T snp 1365.77 0/1 99 120 67 53 0.44 intronic rs11200251 ATE1 AU NM_007041 exon9 c.170110-98C>T 0.296126 0.3006 Uncertain 10_123673339_T->C 10 123673339 123673339 T C snp 6520.77 1/1 99 242 1 241 1.0 exonic rs10749435 ATE1 AU synonymous SNV NM_001001976 exon4 c.A303G p.L101L 0.899161 0.9286 0.915270 0.9030 0.9313 1.000 P -1.041 T Likely benign 10_123681962_T->C 10 123681962 123681962 T C snp 437.77 0/1 99 43 23 20 0.47 intronic rs10887023 ATE1 AU NM_007041 exon10 c.178732+36T>C 0.286342 0.2996 0.266516 0.3825 0.3749 Uncertain 10_123683937_C->T 10 123683937 123683937 C T snp 336.77 0/1 99 24 12 12 0.5 intronic rs78103499 ATE1 AU NM_007041 exon11 c.180650+93C>T 0.086861 0.2917 Uncertain 10_123719835_T->A 10 123719835 123719835 T A snp 230.77 0/1 99 17 8 9 0.53 intronic rs10887033 NSMCE4A AU NM_001167865 exon4 c.1022-37T>A 0.325879 0.2897 0.291789 0.3744 0.3198 Uncertain 10_123719928_C->T 10 123719928 123719928 C T snp 465.77 0/1 99 44 21 23 0.52 intronic rs41287994 NSMCE4A AU NM_001167865 exon4 c.1071+7C>T 0.138778 0.3185 0.070769 0.1092 0.3236 Uncertain 10_123724702_C->- 10 123724702 123724702 C - indel 580.73 0/1 99 44 24 20 0.45 intronic rs34074742 NSMCE4A AU NM_001167865 exon7 c.5950-98delC 0.48722 0.4425 Uncertain 10_123724705_G->A 10 123724705 123724705 G A snp 572.77 0/1 99 46 27 19 0.41 intronic rs11351821 NSMCE4A AU NM_001167865 exon7 c.5950-95G>A 0.289337 0.2857 Uncertain 10_123724767_T->G 10 123724767 123724767 T G snp 5179.77 1/1 99 183 1 182 0.99 intronic rs4752626 NSMCE4A AU NM_001167865 exon7 c.5950-33T>G 0.918131 1 0.909888 0.9757 0.9999 Uncertain 10_123781339_A->G 10 123781339 123781339 A G snp 371.77 0/1 99 28 15 13 0.46 intronic rs2461221 TACC2 AU 0.61881 0.6825 Uncertain 10_123792528_C->A 10 123792528 123792528 C A snp 264.77 0/1 99 17 8 9 0.53 intronic rs5788529 TACC2 AU NM_001291877 exon2 c.33+10999C>A 0.65595 0.6994 Uncertain 10_123842065_A->G 10 123842065 123842065 A G snp 711.77 1/1 54 21 0 21 1.0 intronic rs2459103 TACC2 AU NM_001291877 exon4 c.60665-96A>G 0.970048 1 Uncertain 10_123845322_T->C 10 123845322 123845322 T C snp 2548.77 1/1 99 92 0 92 1.0 exonic rs7073433 TACC2 AU nonsynonymous SNV NM_001291876 exon4 c.T3307C p.W1103R 0.988219 1 0.988313 0.9965 0.9999 0.16 T 0.0 P -0.924 T 0.0 T 0.0 T Pathogenic 10_123891928_T->G 10 123891928 123891928 T G snp 33.77 0/1 62 4 2 2 0.5 intronic rs2420997 TACC2 AU NM_001291877 exon6 c.110627-195T>G 0.314497 0.3631 Uncertain 10_123892060_G->A 10 123892060 123892060 G A snp 1382.77 0/1 99 106 49 57 0.54 intronic rs12416172 TACC2 AU NM_001291877 exon6 c.110627-63G>A 0.10603 0.0407 Uncertain 10_123902997_G->A 10 123902997 123902997 G A snp 814.77 0/1 99 41 10 31 0.76 intronic rs118141527 TACC2 AU NM_206862 exon7 c.121590-89G>A 0.0311502 0.1379 Uncertain 10_123976029_A->G 10 123976029 123976029 A G snp 423.77 0/1 99 21 7 14 0.67 intronic rs2281670 TACC2 AU NM_001291877 exon10 c.194645-112A>G 0.21266 0.4097 Uncertain 10_123976391_C->A 10 123976391 123976391 C A snp 6185.77 1/1 99 224 0 224 1.0 intronic rs10444046 TACC2 AU NM_001291877 exon10 c.194847+48C>A 0.838458 0.998 0.746348 0.7619 0.9969 0.0 P -1.012 T Uncertain 10_123990094_G->A 10 123990094 123990094 G A snp 89.77 0/1 99 7 3 4 0.57 intronic rs10788260 TACC2 AU NM_206861 exon13 c.208459+139G>A 0.279553 0.5278 Uncertain 10_123996976_G->A 10 123996976 123996976 G A snp 983.77 0/1 99 113 69 44 0.39 exonic rs2295879 TACC2 AU nonsynonymous SNV NM_206860 exon10 c.G2338A p.A780T 0.269169 0.2351 0.253652 0.3028 0.2396 0.71 T 0.0 P -0.924 T 0.022 T 0.009 T Pathogenic 10_123997717_A->G 10 123997717 123997717 A G snp 93.28 1/1 9 3 0 3 1.0 intronic rs1010657 TACC2 AU NM_001291877 exon15 c.216056+165A>G 0.35623 0.3512 Uncertain 10_124001539_G->C 10 124001539 124001539 G C snp 2029.77 1/1 99 75 0 75 1.0 intronic rs11200496 TACC2 AU NM_001291877 exon16 c.220020+23G>C 0.336062 0.3988 0.300092 0.3640 0.3933 Uncertain 10_124008927_T->C 10 124008927 124008927 T C snp 1339.77 1/1 96 45 0 45 1.0 intronic rs2273794 TACC2 AU NM_001291877 exon19 c.227562-131T>C 0.332468 0.4008 Uncertain 10_124008959_G->T 10 124008959 124008959 G T snp 1858.77 1/1 99 66 0 66 1.0 intronic rs2273795 TACC2 AU NM_001291877 exon19 c.227562-99G>T 0.327875 0.3839 Uncertain 10_124009293_A->G 10 124009293 124009293 A G snp 128.03 1/1 12 4 0 4 1.0 intronic rs10510106 TACC2 AU NM_001291877 exon19 c.227683+114A>G 0.391773 0.6052 Uncertain 10_124013604_C->A 10 124013604 124013604 C A snp 2457.77 0/1 99 200 91 109 0.55 UTR3 rs3763763 TACC2 AU 0.261581 0.249 0.236276 0.2699 0.2680 Uncertain 10_124034528_G->T 10 124034528 124034528 G T snp 829.77 0/1 99 104 69 35 0.34 intronic rs7096744 BTBD16 AU 0.479233 0.622 0.420280 Uncertain 10_124034703_T->C 10 124034703 124034703 T C snp 1428.77 0/1 99 101 40 61 0.6 intronic rs7080859 BTBD16 AU NM_144587 exon2 c.18+89T>C 0.483027 0.624 0.425975 Uncertain 10_124036141_T->C 10 124036141 124036141 T C snp 279.77 0/1 99 17 8 9 0.53 intronic rs6585808 BTBD16 AU NM_144587 exon3 c.1709-164T>C Uncertain 10_124036190_T->C 10 124036190 124036190 T C snp 888.77 0/1 99 53 21 32 0.6 intronic rs7086389 BTBD16 AU NM_144587 exon3 c.1709-115T>C 0.484026 0.624 Uncertain 10_124036226_T->C 10 124036226 124036226 T C snp 2996.77 1/1 99 106 0 106 1.0 intronic rs7086403 BTBD16 AU NM_144587 exon3 c.1709-79T>C 0.735024 0.8869 Uncertain 10_124036494_T->C 10 124036494 124036494 T C snp 885.77 1/1 66 28 0 28 1.0 intronic rs7090214 BTBD16 AU NM_144587 exon3 c.1858+40T>C 0.735024 0.8869 0.634476 0.6211 0.8891 Uncertain 10_124036543_C->G 10 124036543 124036543 C G snp 300.77 0/1 51 11 2 9 0.82 intronic rs7072288 BTBD16 AU NM_144587 exon3 c.1858+89C>G 0.392572 0.4067 Uncertain 10_124043629_T->C 10 124043629 124043629 T C snp 562.77 0/1 99 31 12 19 0.61 intronic rs7098436 BTBD16 AU NM_144587 exon4 c.8843+190T>C 0.330272 0.4812 Uncertain 10_124045488_C->T 10 124045488 124045488 C T snp 189.77 0/1 99 13 6 7 0.54 intronic rs2181161 BTBD16 AU NM_144587 exon5 c.11023-131C>T 0.138379 0.3006 Uncertain 10_124045854_C->G 10 124045854 124045854 C G snp 153.77 0/1 99 9 4 5 0.56 intronic rs2104176 BTBD16 AU NM_144587 exon5 c.11167+91C>G 0.21885 0.4058 Uncertain 10_124050575_G->A 10 124050575 124050575 G A snp 279.77 0/1 99 22 8 14 0.64 intronic rs11592545 BTBD16 AU NM_144587 exon7 c.15998-19G>A 0.145767 0.2629 0.117254 0.1405 0.2544 Uncertain 10_124066652_G->A 10 124066652 124066652 G A snp 2483.77 1/1 99 88 0 88 1.0 intronic rs7082865 BTBD16 AU NM_144587 exon10 c.32107-51G>A 0.652356 0.8819 0.528282 Uncertain 10_124089036_G->A 10 124089036 124089036 G A snp 3170.77 1/1 99 116 0 116 1.0 exonic rs2421013 BTBD16 AU nonsynonymous SNV NM_144587 exon11 c.G953A p.R318Q 0.616014 0.8671 0.542903 0.5608 0.8593 1 T 0.0 P -0.990 T 0.0 T 0.0 T Pathogenic 10_124089075_G->A 10 124089075 124089075 G A snp 2167.77 1/1 99 73 0 73 1.0 exonic rs986178 BTBD16 AU nonsynonymous SNV NM_144587 exon11 c.G992A p.G331D 0.0958466 0.1687 0.092957 0.1105 0.1619 0.2 T 0.215 P -1.084 T 0.994 D 0.88 D Pathogenic 10_124091855_-->G 10 124091855 124091855 - G indel 574.73 1/1 54 18 0 18 1.0 intronic rs397713956 BTBD16 AU NM_144587 exon13 c.57354-95insG 0.509385 0.7272 Uncertain 10_124091921_C->T 10 124091921 124091921 C T snp 1788.77 1/1 99 62 0 62 1.0 intronic rs4627016 BTBD16 AU NM_144587 exon13 c.57354-29C>T 0.552516 0.7282 0.504459 0.5474 0.7253 Uncertain 10_124096306_T->C 10 124096306 124096306 T C snp 1035.77 1/1 78 31 0 31 1.0 intronic rs3817285 BTBD16 AU NM_144587 exon15 c.61601+109T>C 0.72524 0.9613 Uncertain 10_124097427_G->T 10 124097427 124097427 G T snp 763.77 1/1 57 19 0 19 1.0 intronic rs11200559 BTBD16 AU NM_144587 exon16 c.62935-104G>T 0.167332 0.2639 Uncertain 10_124097755_G->A 10 124097755 124097755 G A snp 1772.77 1/1 99 50 0 50 1.0 downstream rs2271597 BTBD16 AU 0.382788 0.5685 Uncertain 10_124152936_-->A 10 124152936 124152936 - A indel 513.73 1/1 39 14 0 14 1.0 intronic rs3838776 PLEKHA1 AU NM_001195608 exon3 c.141+79insA 0.945487 0.7917 Uncertain 10_124175273_G->A 10 124175273 124175273 G A snp 96.28 1/1 9 3 0 3 1.0 intronic rs4751892 PLEKHA1 AU NM_001195608 exon8 c.22658-101G>A 0.940296 1 Uncertain 10_124176452_G->A 10 124176452 124176452 G A snp 1343.77 1/1 96 51 0 51 1.0 intronic rs4612730 PLEKHA1 AU NM_001195608 exon8 c.22802+934G>A 0.501997 0.6071 0.4811 0.5909 Uncertain 10_124183690_-->C 10 124183690 124183690 - C indel 383.73 0/1 32 16 3 13 0.81 intronic rs34483104 PLEKHA1 AU NM_001195608 exon10 c.30998-24insC 0.4671 0.5439 Uncertain 10_124183732_T->C 10 124183732 124183732 T C snp 845.77 1/1 63 29 0 29 1.0 exonic rs4405249 PLEKHA1 AU synonymous SNV NM_001001974 exon9 c.T699C p.R233R 0.940296 1 0.881747 0.8884 0.9996 Uncertain 10_124186714_C->T 10 124186714 124186714 C T snp 905.77 1/1 66 28 0 28 1.0 intronic rs2292626 PLEKHA1 AU NM_001195608 exon12 c.33831+167C>T 0.486222 0.6042 Uncertain 10_124189011_TGTGTG->- 10 124189011 124189016 TGTGTG - indel 3055.73 1/1 99 39 0 39 1.0 intronic rs149340711 PLEKHA1 AU NM_001195608 exon14 c.36423-128_36423-123delTGTGTG 0.611222 0.6151 Uncertain 10_124189197_A->G 10 124189197 124189197 A G snp 3630.77 1/1 99 128 0 128 1.0 exonic rs1045216 PLEKHA1 AU nonsynonymous SNV NM_001001974 exon12 c.A958G p.T320A 0.746805 0.8155 0.667231 0.6788 0.7978 1 T 1.000 P -1.005 T 0.0 T 0.0 T Pathogenic 10_124214448_G->T 10 124214448 124214448 G T snp 3897.77 1/1 99 136 0 136 1.0 exonic rs10490924 ARMS2 AU nonsynonymous SNV NM_001099667 exon1 c.G205T p.A69S 0.286542 0.4038 0.205484 0.2550 0.4160 0 D 0.0 P -0.949 T 0.994 D 0.957 D CLINSIG=other;CLNDBN=Age-related_macular_degeneration_8;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000001030.2;CLNDSDB=MedGen:OMIM;CLNDSDBID=C3151070:613778 ID=CM066533;DIS=Macular degeneration, age-related, in smokers, association with;TAG=DFP;PUB=16642439 DFP Pathogenic 10_124214600_-->GT 10 124214600 124214600 - GT indel 2037.73 1/1 99 49 0 49 1.0 intronic rs144224550 ARMS2 AU NM_001099667 exon1 c.297+60insGT 0.286741 0.4038 Uncertain 10_124216384_-->TA 10 124216384 124216384 - TA indel 1797.73 1/1 99 35 0 35 1.0 intronic rs10664316 ARMS2 AU NM_001099667 exon2 c.2179-38insTA 0.652157 0.6756 0.630939 0.6097 0.6450 Uncertain 10_124268401_C->G 10 124268401 124268401 C G snp 298.78 1/1 24 8 0 8 1.0 intronic rs2672585 HTRA1 AR,AD,AU NM_002775 exon6 c.47118+115C>G 0.318291 0.3839 Uncertain 10_124271589_G->A 10 124271589 124271589 G A snp 1491.77 1/1 99 56 0 56 1.0 intronic rs2672586 HTRA1 AR,AD,AU NM_002775 exon8 c.50413+8G>A 0.999401 1 0.999385 0.9998 1 Uncertain 10_124320194_T->C 10 124320194 124320194 T C snp 1826.77 1/1 99 58 0 58 1.0 UTR5 rs2981745 DMBT1 AU 0.699081 0.752 ID=CR100058;DIS=Breast cancer, increased risk, association with;TAG=DFP;PUB=19830809 DFP Uncertain 10_124325409_T->G 10 124325409 124325409 T G snp 4383.77 1/1 99 155 0 155 1.0 intronic rs3019515 DMBT1 AU NM_004406 exon2 c.5196-73T>G 0.689896 0.7778 0.646737 Uncertain 10_124325569_A->G 10 124325569 124325569 A G snp 1992.77 1/1 99 63 0 63 1.0 intronic rs3019516 DMBT1 AU NM_004406 exon2 c.5226+57A>G 0.689297 0.7758 0.647394 Uncertain 10_124325631_T->C 10 124325631 124325631 T C snp 604.77 1/1 45 19 0 19 1.0 intronic rs2981768 DMBT1 AU NM_004406 exon2 c.5226+119T>C 0.986422 1 Uncertain 10_124325661_C->G 10 124325661 124325661 C G snp 180.9 1/1 15 5 0 5 1.0 intronic rs3019517 DMBT1 AU NM_004406 exon2 c.5226+149C>G 0.689497 0.7758 Uncertain 10_124329580_C->A 10 124329580 124329580 C A snp 1083.77 1/1 78 36 1 35 0.97 intronic rs11524819 DMBT1 AU NM_004406 exon3 c.9391-97C>A 0.704273 0.7748 Uncertain 10_124329583_G->A 10 124329583 124329583 G A snp 1121.77 1/1 81 36 0 36 1.0 intronic rs11524820 DMBT1 AU NM_004406 exon3 c.9391-94G>A 0.705671 0.7758 Uncertain 10_124329672_T->C 10 124329672 124329672 T C snp 2295.77 1/1 99 81 0 81 1.0 splicing rs3740220 DMBT1 AU NM_004406 exon3 c.9391-5T>C 0.705671 0.7758 0.237795 0.7159 0.7871 Pathogenic 10_124329673_C->T 10 124329673 124329673 C T snp 2360.77 1/1 99 82 0 82 1.0 splicing rs3740221 DMBT1 AU NM_004406 exon3 c.9391-4C>T 0.705671 0.7758 0.247134 0.7159 0.7871 Pathogenic 10_124329710_C->A 10 124329710 124329710 C A snp 2079.77 1/1 99 78 0 78 1.0 exonic rs11523871 DMBT1 AU nonsynonymous SNV NM_007329 exon3 c.C124A p.P42T 0.705671 0.7758 0.674323 0.7161 0.7873 0.61 T 0.0 P -0.973 T 0.025 T 0.025 T Pathogenic 10_124329746_A->T 10 124329746 124329746 A T snp 1671.77 1/1 99 60 0 60 1.0 intronic rs3740222 DMBT1 AU NM_004406 exon3 c.9439+21A>T 0.705671 0.7758 0.674240 0.7161 0.7876 Uncertain 10_124329801_G->A 10 124329801 124329801 G A snp 949.77 1/1 69 31 0 31 1.0 intronic rs3740223 DMBT1 AU NM_004406 exon3 c.9439+76G>A 0.705072 0.7728 Uncertain 10_124329866_A->C 10 124329866 124329866 A C snp 90.28 1/1 9 3 0 3 1.0 intronic rs3740224 DMBT1 AU NM_004406 exon3 c.9439+141A>C 0.70607 0.7768 Uncertain 10_124330172_C->T 10 124330172 124330172 C T snp 133.03 1/1 12 4 0 4 1.0 intronic rs3013235 DMBT1 AU NM_004406 exon4 c.10119-233C>T 0.705072 0.7758 Uncertain 10_124330240_A->G 10 124330240 124330240 A G snp 1507.77 1/1 99 49 0 49 1.0 intronic rs2981790 DMBT1 AU NM_004406 exon4 c.10119-165A>G 0.705871 0.7768 Uncertain 10_124330252_A->G 10 124330252 124330252 A G snp 1892.77 1/1 99 63 0 63 1.0 intronic rs2981791 DMBT1 AU NM_004406 exon4 c.10119-153A>G 0.705871 0.7768 Uncertain 10_124330427_C->T 10 124330427 124330427 C T snp 4080.77 1/1 99 143 0 143 1.0 exonic rs3013236 DMBT1 AU nonsynonymous SNV NM_007329 exon4 c.C161T p.S54L 0.705272 0.7738 0.674680 0.7160 0.7859 0.66 T 0.0 P -0.983 T 0.148 T 0.032 T Pathogenic 10_124331722_T->C 10 124331722 124331722 T C snp 325.78 1/1 27 9 0 9 1.0 intronic rs2981801 DMBT1 AU NM_004406 exon5 c.11543-107T>C 0.705671 0.7758 Uncertain 10_124331867_C->T 10 124331867 124331867 C T snp 2849.77 1/1 99 101 1 100 0.99 exonic rs7084792 DMBT1 AU synonymous SNV NM_007329 exon5 c.C225T p.T75T 0.98742 1 0.987597 0.9960 1 Uncertain 10_124331944_C->T 10 124331944 124331944 C T snp 2470.77 1/1 99 88 0 88 1.0 intronic rs2277229 DMBT1 AU NM_004406 exon5 c.11591+67C>T 0.705671 0.7758 0.665134 Uncertain 10_124331957_T->C 10 124331957 124331957 T C snp 2368.77 1/1 99 83 0 83 1.0 intronic rs2277230 DMBT1 AU NM_004406 exon5 c.11591+80T>C 0.705671 0.7758 Uncertain 10_124331963_A->G 10 124331963 124331963 A G snp 2229.77 1/1 99 84 0 84 1.0 intronic rs2277231 DMBT1 AU NM_004406 exon5 c.11591+86A>G 0.705671 0.7758 Uncertain 10_124332035_T->C 10 124332035 124332035 T C snp 1263.77 1/1 90 43 0 43 1.0 intronic rs2277232 DMBT1 AU NM_004406 exon5 c.11591+158T>C 0.705671 0.7758 Uncertain 10_124332114_T->C 10 124332114 124332114 T C snp 135.03 1/1 12 4 0 4 1.0 intronic rs2277233 DMBT1 AU NM_004406 exon5 c.11591+237T>C 0.705671 0.7758 Uncertain 10_124332120_C->A 10 124332120 124332120 C A snp 94.28 1/1 9 3 0 3 1.0 intronic rs2277234 DMBT1 AU NM_004406 exon5 c.11591+243C>A 0.705671 0.7758 Uncertain 10_124333308_G->A 10 124333308 124333308 G A snp 2208.77 1/1 99 82 0 82 1.0 intronic rs2277235 DMBT1 AU NM_004406 exon6 c.12992+30G>A 0.636581 0.7579 0.642941 0.6867 0.7673 Uncertain 10_124335866_C->T 10 124335866 124335866 C T snp 1984.77 1/1 99 76 1 75 0.99 intronic rs1985025 DMBT1 AU NM_004406 exon7 c.15628-48C>T 0.636581 0.7579 0.643988 0.6896 0.7679 Uncertain 10_124337528_T->C 10 124337528 124337528 T C snp 54.74 1/1 6 2 0 2 1.0 intronic rs3013243 DMBT1 AU NM_004406 exon8 c.17070+172T>C 0.704473 0.7768 Uncertain 10_124359524_C->T 10 124359524 124359524 C T snp 181.77 0/1 99 180 160 20 0.11 intronic rs376472631 DMBT1 AU NM_004406 exon17 c.39293-55C>T 0.0235623 0.0258 Uncertain 10_124389296_C->G 10 124389296 124389296 C G snp 694.77 0/1 99 59 32 27 0.46 intronic rs3013177 DMBT1 AU NM_004406 exon31 c.69069-59C>G 0.61901 0.6736 Uncertain 10_124399467_C->T 10 124399467 124399467 C T snp 140.77 0/1 99 13 8 5 0.38 intronic rs2261655 DMBT1 AU NM_004406 exon39 c.79269-88C>T 0.647963 0.6687 Uncertain 10_124399985_G->T 10 124399985 124399985 G T snp 1523.77 0/1 99 126 67 59 0.47 intronic rs2261660 DMBT1 AU NM_004406 exon39 c.79679+20G>T 0.586062 0.6657 0.510041 0.4735 0.6847 Uncertain 10_124402677_A->G 10 124402677 124402677 A G snp 2712.77 0/1 99 250 137 113 0.45 exonic rs1052715 DMBT1 AU synonymous SNV NM_007329 exon53 c.A7005G p.P2335P 0.64377 0.6687 0.549707 0.5171 0.6887 Uncertain 10_124402944_G->A 10 124402944 124402944 G A snp 544.77 0/1 99 29 13 16 0.55 UTR3 rs8441 DMBT1 AU 0.236821 0.1419 0.263373 0.2533 0.1969 Uncertain 10_124436530_G->T 10 124436530 124436530 G T snp 346.77 0/1 99 21 8 13 0.62 intergenic rs3019500 DMBT1 AU 0.481629 0.3958 Uncertain 10_124457452_C->T 10 124457452 124457452 C T snp 2012.77 0/1 99 153 75 78 0.51 exonic rs2947594 C10orf120 AU nonsynonymous SNV NM_001010912 exon3 c.G805A p.A269T 0.807708 0.8095 0.786099 0.7823 0.8000 0.86 T 0.0 P -1.013 T 0.0 T 0.0 T Pathogenic 10_124594153_A->G 10 124594153 124594153 A G snp 712.9 1/1 15 25 2 23 0.92 ncRNA_intronic rs11248321 FAM24B-CUZD1 AU 0.429912 0.495 Uncertain 10_124595875_A->- 10 124595875 124595875 A - indel 104.27 0/1 1 19 2 17 0.89 ncRNA_intronic rs11365591 FAM24B-CUZD1 AU 0.5627 0.5585 0.5088 0.4915 Uncertain 10_124610027_G->A 10 124610027 124610027 G A snp 3857.77 1/1 99 128 0 128 1.0 exonic rs1891110 FAM24B AU nonsynonymous SNV NM_001204364 exon3 c.C5T p.P2L 0.502396 0.4931 0.543134 0.5284 0.5103 0.23 T 0.0 P -0.926 T 0.0 T 0.0 T Pathogenic 10_124648150_A->G 10 124648150 124648150 A G snp 7204.77 1/1 99 250 0 250 1.0 ncRNA_exonic rs10902838 LOC399815 AU 0.426917 0.4157 0.5250 0.4725 Uncertain 10_124648285_G->A 10 124648285 124648285 G A snp 2399.77 1/1 99 74 0 74 1.0 ncRNA_intronic rs10902839 LOC399815 AU 0.435703 0.4157 Uncertain 10_124653996_T->C 10 124653996 124653996 T C snp 788.77 1/1 57 29 0 29 1.0 ncRNA_intronic rs12255784 LOC399815 AU 0.435104 0.4157 Uncertain 10_124654346_T->- 10 124654346 124654346 T - indel 519.73 1/1 57 27 0 27 1.0 ncRNA_intronic rs35248586 LOC399815 AU Uncertain 10_124697198_G->A 10 124697198 124697198 G A snp 5383.77 1/1 99 195 0 195 1.0 intronic rs10794580 C10orf88 AU NM_024942 exon2 c.5278-22G>A 0.40655 0.4464 0.413488 0.4497 0.4585 Uncertain 10_124742586_G->A 10 124742586 124742586 G A snp 556.77 1/1 42 15 0 15 1.0 intronic rs3736585 PSTK AU NM_153336 exon2 c.2545+46G>A 0.581869 0.3919 0.690086 0.6361 0.4171 Uncertain 10_124742683_C->T 10 124742683 124742683 C T snp 325.03 0/1 12 11 1 10 0.91 intronic rs3736584 PSTK AU NM_153336 exon3 c.2792-104C>T 0.581669 0.3919 Uncertain 10_124742792_G->A 10 124742792 124742792 G A snp 2391.77 1/1 94 97 4 93 0.96 exonic rs3736583 PSTK AU synonymous SNV NM_153336 exon3 c.G513A p.S171S 0.581669 0.3919 0.688528 0.6370 0.4198 1.000 P -1.091 T Likely benign 10_124742895_G->C 10 124742895 124742895 G C snp 2172.77 1/1 99 84 2 82 0.98 exonic rs3736582 PSTK AU nonsynonymous SNV NM_153336 exon3 c.G616C p.G206R 0.581669 0.3919 0.688451 0.6339 0.4173 0.47 T 0.514 P -0.991 T 0.003 T 0.009 T Pathogenic 10_124746801_T->G 10 124746801 124746801 T G snp 3662.77 1/1 99 121 0 121 1.0 intronic rs7096614 PSTK AU NM_153336 exon6 c.6854-48T>G 0.58127 0.3929 0.691460 0.6513 0.4094 Uncertain 10_124749740_A->C 10 124749740 124749740 A C snp 696.77 0/1 99 68 35 33 0.49 UTR3 rs11190 PSTK AU 0.193091 0.1042 0.3004 0.1296 Uncertain 10_124768583_G->A 10 124768583 124768583 G A snp 651.77 0/1 99 70 40 30 0.43 exonic rs12263012 ACADSB AR nonsynonymous SNV NM_001609 exon1 c.G38A p.R13K 0.20607 0.1042 0.274225 0.2984 0.1329 0.28 T 0.0 P -0.940 T 0.012 T 0.005 T ID=CM070001;DIS=Higher diastolic blood pressure in women, association with;TAG=DP;PUB=17143180 DP Pathogenic 10_124787047_T->C 10 124787047 124787047 T C snp 450.77 0/1 99 48 24 24 0.5 intronic rs10794584 ACADSB AR NM_001609 exon2 c.25326-6824T>C 0.370208 0.2192 0.4166 0.2424 Uncertain 10_124787118_G->A 10 124787118 124787118 G A snp 388.77 0/1 99 37 20 17 0.46 intronic rs10902863 ACADSB AR NM_001609 exon2 c.25326-6753G>A 0.370407 0.2202 0.4161 0.2424 Uncertain 10_124793714_-->A 10 124793714 124793714 - A indel 206.8 1/1 18 6 0 6 1.0 intronic rs386372715 ACADSB AR NM_001609 exon2 c.25326-157insA 1 1 Uncertain 10_124800853_C->T 10 124800853 124800853 C T snp 1846.77 0/1 99 152 74 78 0.51 exonic rs1140591 ACADSB AR synonymous SNV NM_001609 exon5 c.C639T p.H213H 0.227835 0.1419 0.228125 0.2388 0.1508 Uncertain 10_124812487_A->G 10 124812487 124812487 A G snp 1736.77 1/1 99 53 0 53 1.0 intronic rs2421166 ACADSB AR NM_001609 exon10 c.44031-89A>G 0.964657 0.8631 Uncertain 10_124812686_T->- 10 124812686 124812686 T - indel 1279.73 1/1 99 62 0 62 1.0 intronic rs11307362 ACADSB AR NM_001609 exon10 c.44131+10delT 0.841254 0.8165 0.8350 0.8101 Uncertain 10_124909192_C->G 10 124909192 124909192 C G snp 1377.77 0/1 99 105 45 60 0.57 exonic rs539639736 HMX2 AU synonymous SNV NM_005519 exon2 c.C375G p.P125P 0.00119808 0.006 0.0004 0.0052 Uncertain 10_125425822_T->G 10 125425822 125425822 T G snp 133.03 1/1 12 5 0 5 1.0 upstream rs10902974 GPR26 AU 0.998602 1 Uncertain 10_125426412_A->G 10 125426412 125426412 A G snp 1561.77 0/1 99 119 54 65 0.55 exonic rs12263344 GPR26 AU synonymous SNV NM_153442 exon1 c.A489G p.P163P 0.551917 0.38 0.635811 0.5897 0.4063 Uncertain 10_125426565_G->C 10 125426565 125426565 G C snp 4433.77 1/1 99 163 0 163 1.0 exonic rs4980313 GPR26 AU synonymous SNV NM_153442 exon1 c.G642C p.L214L 0.998802 1 0.999846 0.9999 1 Uncertain 10_125426627_G->T 10 125426627 125426627 G T snp 797.77 0/1 99 86 49 37 0.43 intronic rs3808964 GPR26 AU NM_153442 exon1 c.668+36G>T 0.408746 0.2986 0.571090 0.5851 0.3778 Uncertain 10_125472862_A->G 10 125472862 125472862 A G snp 648.77 0/1 99 56 32 24 0.43 intergenic rs2114678 GPR26 AU 0.0646965 0.0337 0.1159 0.0306 Uncertain 10_125472937_T->C 10 125472937 125472937 T C snp 278.77 0/1 99 30 19 11 0.37 intergenic rs2114677 GPR26 AU 0.0654952 0.0337 0.1485 0.0411 Uncertain 10_125506302_T->C 10 125506302 125506302 T C snp 2910.77 1/1 99 89 0 89 1.0 exonic rs7088479 CPXM2 AU nonsynonymous SNV NM_198148 exon14 c.A2249G p.Q750R 0.986422 1 0.982239 0.9945 1 1 T 0.000 P -0.920 T 0.0 T 0.0 T Pathogenic 10_125521533_G->A 10 125521533 125521533 G A snp 2816.77 0/1 99 233 114 119 0.51 exonic rs10794566 CPXM2 AU synonymous SNV NM_198148 exon11 c.C1632T p.D544D 0.60643 0.5655 0.667846 0.7071 0.5528 Uncertain 10_125521590_G->A 10 125521590 125521590 G A snp 2938.77 0/1 99 241 114 127 0.53 exonic rs10794567 CPXM2 AU synonymous SNV NM_198148 exon11 c.C1575T p.Y525Y 0.64996 0.5665 0.709980 0.7217 0.5534 Uncertain 10_125521721_G->A 10 125521721 125521721 G A snp 2389.77 1/1 99 81 0 81 1.0 intronic rs10751743 CPXM2 AU NM_198148 exon4 c.15406+36G>A 0.832668 0.6845 0.863986 0.8620 0.6614 Uncertain 10_125521751_C->G 10 125521751 125521751 C G snp 1462.77 1/1 99 47 0 47 1.0 intronic rs10794568 CPXM2 AU NM_198148 exon4 c.15406+66C>G 0.835264 0.6895 Uncertain 10_125526689_G->A 10 125526689 125526689 G A snp 171.77 0/1 99 19 13 6 0.32 intronic rs1896392 CPXM2 AU NM_198148 exon5 c.20389+21G>A 0.645767 0.5823 0.703598 0.7389 0.5729 Uncertain 10_125527964_G->A 10 125527964 125527964 G A snp 165.77 0/1 99 25 17 8 0.32 intronic rs1219727 CPXM2 AU NM_198148 exon6 c.21762-77G>A 0.380391 0.5992 Uncertain 10_125528007_A->G 10 125528007 125528007 A G snp 559.77 0/1 99 61 37 24 0.39 intronic rs1219726 CPXM2 AU NM_198148 exon6 c.21762-34A>G 0.381989 0.6012 0.316085 0.4080 0.6488 Uncertain 10_125528048_G->A 10 125528048 125528048 G A snp 1043.77 0/1 99 93 49 44 0.47 exonic rs1219725 CPXM2 AU synonymous SNV NM_198148 exon9 c.C1293T p.Y431Y 0.378794 0.5992 0.313086 0.4055 0.6499 Uncertain 10_125528297_T->G 10 125528297 125528297 T G snp 734.77 0/1 99 63 34 29 0.46 intronic rs1219724 CPXM2 AU NM_198148 exon6 c.21959+59T>G 0.382188 0.6012 Uncertain 10_125530746_C->T 10 125530746 125530746 C T snp 593.77 1/1 45 17 0 17 1.0 intronic rs727416 CPXM2 AU NM_198148 exon7 c.24276+191C>T 0.5623 0.7421 Uncertain 10_125602021_C->T 10 125602021 125602021 C T snp 1467.77 1/1 99 55 0 55 1.0 intronic rs10794571 CPXM2 AU NM_198148 exon11 c.95725+17C>T 0.274561 0.3651 0.229279 0.2250 0.3532 Uncertain 10_125602943_G->A 10 125602943 125602943 G A snp 1248.77 0/1 99 122 63 59 0.48 intronic rs6599625 CPXM2 AU NM_198148 exon11 c.95725+939G>A 0.385383 0.4097 Uncertain 10_125622251_A->- 10 125622251 125622251 A - indel 8222.73 1/1 99 211 0 211 1.0 intronic rs11299200 CPXM2 AU NM_198148 exon12 c.115960+12delA 0.8127 0.7966 0.834425 0.7868 0.7882 Uncertain 10_125622263_A->T 10 125622263 125622263 A T snp 5119.77 1/1 99 183 0 183 1.0 intronic rs28469012 CPXM2 AU NM_198148 exon12 c.115960+24A>T 0.152157 0.3165 0.110641 0.1399 0.3221 Uncertain 10_125673492_A->G 10 125673492 125673492 A G snp 1578.77 0/1 99 119 48 71 0.6 intergenic rs7893288 CPXM2 AU 0.63139 0.3472 Uncertain 10_125673547_T->G 10 125673547 125673547 T G snp 1864.77 0/1 99 121 41 80 0.66 intergenic rs4329614 CPXM2 AU 0.5 0.2421 0.614057 0.6033 0.3328 Uncertain 10_125780481_T->C 10 125780481 125780481 T C snp 99.28 1/1 9 3 0 3 1.0 UTR3 rs4072195 CHST15 AU 0.764377 0.9167 Uncertain 10_125780753_G->- 10 125780753 125780753 G - indel 69.73 0/1 99 40 26 14 0.35 exonic rs398015013 CHST15 AU frameshift deletion NM_001270765 exon6 c.1366delC p.R456fs 0.807109 0.874 0.5990 0.7307 ID=COSM1346551;OCCURENCE=8(large_intestine),1(upper_aerodigestive_tract) Pathogenic 10_125801761_A->T 10 125801761 125801761 A T snp 764.77 0/1 99 45 16 29 0.64 intronic rs28698985 CHST15 AU NM_001270764 exon5 c.32152-55A>T 0.35623 0.3095 Uncertain 10_125801809_C->A 10 125801809 125801809 C A snp 1163.77 0/1 99 87 39 48 0.55 intronic rs28716482 CHST15 AU NM_001270764 exon5 c.32152-7C>A 0.352636 0.3026 0.361141 0.2805 0.3163 Uncertain 10_125804454_G->A 10 125804454 125804454 G A snp 1663.77 0/1 99 123 58 65 0.53 intronic rs117252336 CHST15 AU NM_001270764 exon6 c.34771+19G>A 0.0229633 0.0377 0.000154 0.0105 0.0469 Uncertain 10_126086730_G->A 10 126086730 126086730 G A snp 1137.77 1/1 84 35 0 35 1.0 intronic rs2459217 OAT AR NM_000274 exon1 c.161+59G>A 0.953275 0.997 Uncertain 10_126089434_G->A 10 126089434 126089434 G A snp 99.28 1/1 9 3 0 3 1.0 exonic rs11461 OAT AR synonymous SNV NM_000274 exon9 c.C1134T p.N378N 0.409944 0.6369 0.315259 0.4180 0.5898 CLINSIG=non-pathogenic;CLNDBN=OAT_POLYMORPHISM;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000000184.1;CLNDSDB=.;CLNDSDBID=. Uncertain 10_126089656_T->G 10 126089656 126089656 T G snp 359.78 1/1 27 13 0 13 1.0 intronic rs2459215 OAT AR NM_000274 exon2 c.3043+103T>G 0.907947 0.9653 Uncertain 10_126089703_G->A 10 126089703 126089703 G A snp 187.9 1/1 15 7 0 7 1.0 intronic rs2491158 OAT AR NM_000274 exon2 c.3043+150G>A 0.863419 0.9653 Uncertain 10_126090562_T->C 10 126090562 126090562 T C snp 1113.77 1/1 81 31 0 31 1.0 intronic rs2491159 OAT AR NM_000274 exon3 c.3898+154T>C 0.527356 0.7054 Uncertain 10_126090594_G->T 10 126090594 126090594 G T snp 228.77 0/1 99 12 5 7 0.58 intronic rs144523649 OAT AR NM_000274 exon3 c.3898+186G>T 0.0103834 0.0516 Uncertain 10_126092547_T->C 10 126092547 126092547 T C snp 1910.77 0/1 99 148 69 79 0.53 intronic OAT AR NM_000274 exon5 c.5979+58T>C Uncertain 10_126093859_C->T 10 126093859 126093859 C T snp 56.74 1/1 6 2 0 2 1.0 intronic rs12244563 OAT AR NM_000274 exon6 c.7494-145C>T 0.0479233 0.0407 Uncertain 10_126093991_T->C 10 126093991 126093991 T C snp 1222.77 1/1 87 41 0 41 1.0 intronic rs9422807 OAT AR NM_000274 exon6 c.7494-13T>C 0.865815 0.9653 0.808704 0.8526 0.9545 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000153614.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 10_126150338_C->T 10 126150338 126150338 C T snp 421.77 1/1 33 12 0 12 1.0 upstream rs2459213 LHPP AU 0.634185 0.8661 Uncertain 10_126150388_C->A 10 126150388 126150388 C A snp 1060.77 1/1 78 40 0 40 1.0 UTR5 rs2491156 LHPP AU 0.631789 0.8591 0.778220 0.8385 0.9180 Uncertain 10_126172863_A->G 10 126172863 126172863 A G snp 2344.77 1/1 99 83 0 83 1.0 exonic rs6597801 LHPP AU nonsynonymous SNV NM_001167880 exon2 c.A281G p.Q94R 0.897963 0.9385 0.916039 0.8828 0.9435 1 T 0.002 P -0.971 T 0.0 T 0.001 T Pathogenic 10_126185451_T->C 10 126185451 126185451 T C snp 473.77 0/1 99 32 14 18 0.56 intronic rs10794134 LHPP AU NM_022126 exon4 c.35098-78T>C 0.731829 0.5923 Uncertain 10_126185618_A->G 10 126185618 126185618 A G snp 1620.77 0/1 99 150 78 72 0.48 intronic rs3824810 LHPP AU NM_022126 exon4 c.35162+25A>G 0.728435 0.5913 0.719591 0.7245 0.6183 Uncertain 10_126185707_C->T 10 126185707 126185707 C T snp 676.77 0/1 99 60 33 27 0.45 intronic rs3824809 LHPP AU NM_022126 exon4 c.35162+114C>T 0.727436 0.5883 Uncertain 10_126395123_T->C 10 126395123 126395123 T C snp 3937.77 1/1 99 143 0 143 1.0 ncRNA_intronic rs7897256 FAM53B-AS1 AU 0.925719 0.9812 Uncertain 10_126480556_T->C 10 126480556 126480556 T C snp 56.74 1/1 6 2 0 2 1.0 upstream rs10901821 METTL10 AU 0.725839 0.7282 Uncertain 10_126505062_-->A 10 126505062 126505062 - A indel 663.73 1/1 75 25 0 25 1.0 intronic rs11451694 FAM175B AU NM_032182 exon3 c.14746-82insA 0.827476 0.9058 Uncertain 10_126517989_G->A 10 126517989 126517989 G A snp 5162.77 1/1 99 194 1 193 0.99 exonic rs2303611 FAM175B AU synonymous SNV NM_032182 exon7 c.G606A p.V202V 0.483027 0.5873 0.457327 0.5516 0.5973 Uncertain 10_126629204_G->A 10 126629204 126629204 G A snp 205.77 0/1 99 17 9 8 0.47 intergenic rs7074163 FAM175B AU 0.778754 0.9474 Uncertain 10_126660781_A->T 10 126660781 126660781 A T snp 486.77 0/1 99 21 7 14 0.67 intronic rs3802700 ZRANB1 AU NM_017580 exon3 c.29625+94A>T 0.772963 0.9474 Uncertain 10_126662451_C->T 10 126662451 126662451 C T snp 178.9 1/1 15 5 0 5 1.0 intronic rs3740534 ZRANB1 AU NM_017580 exon4 c.31223+166C>T 0.934105 0.9702 Uncertain 10_126670501_A->G 10 126670501 126670501 A G snp 1923.77 0/1 99 154 76 78 0.51 intronic rs182948269 ZRANB1 AU NM_017580 exon6 c.39336+103A>G 0.000599042 0.002 Uncertain 10_126673560_-->A 10 126673560 126673560 - A indel 1095.73 0/1 99 139 62 77 0.55 exonic rs535580590 ZRANB1 AU frameshift insertion NM_017580 exon9 c.2127dupA p.X709delinsX 0.0658946 0.0129 0.095927 0.1286 0.0188 ID=COSM1346591;OCCURENCE=5(large_intestine) Pathogenic 10_126681219_G->C 10 126681219 126681219 G C snp 71.77 0/1 99 7 4 3 0.43 intronic rs3213907 CTBP2 AU NM_001083914 exon2 c.3177-44G>C 0.548922 0.7411 0.6648 0.7032 Uncertain 10_126683058_T->G 10 126683058 126683058 T G snp 319.77 0/1 99 190 165 25 0.13 exonic CTBP2 AU nonsynonymous SNV NM_022802 exon5 c.A2380C p.N794H 0 D 1 D 0.598 D 1.0 D 0.996 D Pathogenic 10_126683062_G->A 10 126683062 126683062 G A snp 296.77 0/1 99 189 164 25 0.13 exonic CTBP2 AU synonymous SNV NM_022802 exon5 c.C2376T p.L792L Uncertain 10_126683070_G->A 10 126683070 126683070 G A snp 261.77 0/1 99 193 167 26 0.13 exonic CTBP2 AU nonsynonymous SNV NM_022802 exon5 c.C2368T p.H790Y 0.11 T 1 D -0.129 T 0.868 T 0.701 P Pathogenic 10_126683071_G->C 10 126683071 126683071 G C snp 382.77 0/1 99 195 165 30 0.15 exonic rs61870306 CTBP2 AU nonsynonymous SNV NM_022802 exon5 c.C2367G p.N789K 0 D 1.000 D 0.169 D 1.0 D 0.998 D Pathogenic 10_126683074_A->T 10 126683074 126683074 A T snp 305.77 0/1 99 193 166 27 0.14 exonic CTBP2 AU nonsynonymous SNV NM_022802 exon5 c.T2364A p.H788Q 0.03 T 1.000 D -0.801 T 0.682 T 0.383 P Pathogenic 10_126683087_T->C 10 126683087 126683087 T C snp 408.77 0/1 99 211 177 34 0.16 exonic rs61870307 CTBP2 AU nonsynonymous SNV NM_022802 exon5 c.A2351G p.N784S 1.648e-05 0 0.23 T 1.000 D -0.716 T 0.011 T 0.056 T Pathogenic 10_126683092_G->A 10 126683092 126683092 G A snp 600.77 0/1 99 218 177 41 0.19 exonic CTBP2 AU synonymous SNV NM_022802 exon5 c.C2346T p.H782H Uncertain 10_126683099_G->A 10 126683099 126683099 G A snp 610.77 0/1 99 220 178 42 0.19 exonic rs374871777 CTBP2 AU nonsynonymous SNV NM_022802 exon5 c.C2339T p.S780F 0 D 1 D 0.694 D 1.0 D 0.995 D Pathogenic 10_126683111_C->T 10 126683111 126683111 C T snp 668.77 0/1 99 220 176 44 0.2 exonic rs78155918 CTBP2 AU nonsynonymous SNV NM_022802 exon5 c.G2327A p.S776N 0 D 1 D 0.923 D 0.997 D 0.979 D Pathogenic 10_126683123_A->C 10 126683123 126683123 A C snp 577.77 0/1 99 227 183 44 0.19 exonic rs79936509 CTBP2 AU nonsynonymous SNV NM_022802 exon5 c.T2315G p.L772W 0 D 1.000 D 0.946 D 1.0 D 0.999 D Pathogenic 10_126683132_A->T 10 126683132 126683132 A T snp 643.77 0/1 99 236 193 43 0.18 exonic rs150320719 CTBP2 AU nonsynonymous SNV NM_022802 exon5 c.T2306A p.L769Q 0 D 1 D 0.754 D 1.0 D 0.999 D Pathogenic 10_126683146_C->A 10 126683146 126683146 C A snp 630.77 0/1 99 237 194 43 0.18 exonic rs80025996 CTBP2 AU nonsynonymous SNV NM_022802 exon5 c.G2292T p.Q764H 0 D 1.000 D 0.130 D 0.996 D 0.954 D Pathogenic 10_126683150_A->G 10 126683150 126683150 A G snp 149.77 0/1 99 238 213 25 0.11 exonic rs201671356 CTBP2 AU nonsynonymous SNV NM_022802 exon5 c.T2288C p.V763A 0.05 T 1.000 D -0.159 T 0.621 T 0.525 P Pathogenic 10_126683151_C->T 10 126683151 126683151 C T snp 606.77 0/1 99 238 191 47 0.2 exonic rs76203768 CTBP2 AU nonsynonymous SNV NM_022802 exon5 c.G2287A p.V763M 1.647e-05 0 0 D 1.000 D 0.170 D 0.99 D 0.668 D Pathogenic 10_126683152_G->A 10 126683152 126683152 G A snp 638.77 0/1 99 238 195 43 0.18 exonic rs78653489 CTBP2 AU synonymous SNV NM_022802 exon5 c.C2286T p.G762G 8.237e-06 0 ID=COSM3790575,COSM3790576;OCCURENCE=1(urinary_tract) Uncertain 10_126683162_C->T 10 126683162 126683162 C T snp 633.77 0/1 99 239 188 51 0.21 exonic rs75420260 CTBP2 AU nonsynonymous SNV NM_022802 exon5 c.G2276A p.R759Q 0.07 T 1 D -0.218 T 0.977 D 0.505 D Pathogenic 10_126683190_C->A 10 126683190 126683190 C A snp 490.77 0/1 99 176 143 33 0.19 exonic rs78681531 CTBP2 AU nonsynonymous SNV NM_022802 exon5 c.G2248T p.D750Y 0 D 1 D 0.912 D 1.0 D 0.999 D Pathogenic 10_126683218_C->T 10 126683218 126683218 C T snp 138.77 0/1 99 178 158 20 0.11 exonic CTBP2 AU synonymous SNV NM_022802 exon5 c.G2220A p.K740K ID=COSM4144441,COSM4144442;OCCURENCE=1(thyroid) Likely pathogenic 10_126683219_T->G 10 126683219 126683219 T G snp 122.77 0/1 99 178 158 20 0.11 exonic CTBP2 AU nonsynonymous SNV NM_022802 exon5 c.A2219C p.K740T 0 D 1 D 0.317 D 0.997 D 0.994 D ID=COSM4144444,COSM4144443;OCCURENCE=2(thyroid) Pathogenic 10_126686557_C->T 10 126686557 126686557 C T snp 71.77 0/1 99 82 75 7 0.09 exonic CTBP2 AU nonsynonymous SNV NM_022802 exon4 c.G2161A p.E721K 0.6 T 1.000 D -0.728 T 0.337 T 0.292 T Pathogenic 10_126686564_G->A 10 126686564 126686564 G A snp 439.77 0/1 99 85 67 18 0.21 exonic rs76961061 CTBP2 AU synonymous SNV NM_022802 exon4 c.C2154T p.I718I Uncertain 10_126686574_G->A 10 126686574 126686574 G A snp 251.77 0/1 99 97 76 21 0.22 exonic rs76390727 CTBP2 AU nonsynonymous SNV NM_022802 exon4 c.C2144T p.A715V 1.705e-05 0.0001 0.01 T 1.000 D 0.042 D 0.998 D 0.868 D Pathogenic 10_126686579_C->T 10 126686579 126686579 C T snp 48.77 0/1 77 107 98 9 0.08 exonic rs757362812 CTBP2 AU synonymous SNV NM_022802 exon4 c.G2139A p.S713S 1.705e-05 0 Uncertain 10_126686593_G->C 10 126686593 126686593 G C snp 569.77 0/1 99 148 97 51 0.34 exonic CTBP2 AU nonsynonymous SNV NM_022802 exon4 c.C2125G p.R709G 0 D 1 D 0.167 D 0.952 T 0.88 D Pathogenic 10_126686594_G->A 10 126686594 126686594 G A snp 551.77 0/1 99 152 123 29 0.19 exonic CTBP2 AU synonymous SNV NM_022802 exon4 c.C2124T p.I708I Uncertain 10_126686605_C->T 10 126686605 126686605 C T snp 601.77 0/1 99 180 139 41 0.23 exonic rs74442958 CTBP2 AU nonsynonymous SNV NM_022802 exon4 c.G2113A p.V705M 0.000077 4.331e-05 0 0.01 T 1.000 D 0.175 D 0.993 D 0.734 D Pathogenic 10_126686615_C->T 10 126686615 126686615 C T snp 681.77 0/1 99 196 149 47 0.24 exonic rs78206055 CTBP2 AU synonymous SNV NM_022802 exon4 c.G2103A p.R701R Uncertain 10_126686619_G->T 10 126686619 126686619 G T snp 299.77 0/1 99 204 172 32 0.16 exonic CTBP2 AU nonsynonymous SNV NM_022802 exon4 c.C2099A p.T700K 0.45 T 1.000 D -0.797 T 0.603 T 0.155 P Pathogenic 10_126686629_G->T 10 126686629 126686629 G T snp 828.77 0/1 99 208 126 82 0.39 exonic rs74523764 CTBP2 AU synonymous SNV NM_022802 exon4 c.C2089A p.R697R Uncertain 10_126686646_C->G 10 126686646 126686646 C G snp 763.77 0/1 99 228 178 50 0.22 exonic CTBP2 AU nonsynonymous SNV NM_022802 exon4 c.G2072C p.W691S 0.02 T 1 D 0.015 D 0.995 D 0.972 D Pathogenic 10_126686648_C->T 10 126686648 126686648 C T snp 282.77 0/1 99 232 201 31 0.13 exonic rs75826544 CTBP2 AU synonymous SNV NM_022802 exon4 c.G2070A p.T690T Uncertain 10_126686649_G->C 10 126686649 126686649 G C snp 751.77 0/1 99 235 185 50 0.21 exonic CTBP2 AU nonsynonymous SNV NM_022802 exon4 c.C2069G p.T690R 0.12 T 1 D 0.036 D 1.0 D 0.994 D Pathogenic 10_126686656_T->C 10 126686656 126686656 T C snp 733.77 0/1 99 237 187 50 0.21 exonic CTBP2 AU nonsynonymous SNV NM_022802 exon4 c.A2062G p.R688G 0 D 1.000 D -0.139 T 0.967 D 0.834 D Pathogenic 10_126686659_G->A 10 126686659 126686659 G A snp 660.77 0/1 99 243 192 51 0.21 exonic CTBP2 AU nonsynonymous SNV NM_022802 exon4 c.C2059T p.R687W 0 D 1 D 0.927 D 1.0 D 0.998 D Pathogenic 10_126686665_G->T 10 126686665 126686665 G T snp 268.77 0/1 99 250 219 31 0.12 exonic rs77909283 CTBP2 AU nonsynonymous SNV NM_022802 exon4 c.C2053A p.L685M 0.08 T 1.000 D 0.442 D 0.999 D 0.99 D Pathogenic 10_126686666_G->A 10 126686666 126686666 G A snp 711.77 0/1 99 250 198 52 0.21 exonic CTBP2 AU synonymous SNV NM_022802 exon4 c.C2052T p.N684N Uncertain 10_126686672_G->A 10 126686672 126686672 G A snp 176.77 0/1 99 250 224 26 0.1 exonic rs76229685 CTBP2 AU synonymous SNV NM_022802 exon4 c.C2046T p.I682I 2.963e-05 0.0001 Uncertain 10_126686680_A->C 10 126686680 126686680 A C snp 645.77 0/1 99 249 202 47 0.19 exonic CTBP2 AU nonsynonymous SNV NM_022802 exon4 c.T2038G p.C680G 0.14 T 1 D -0.313 T 0.792 T 0.742 P Pathogenic 10_126686682_A->G 10 126686682 126686682 A G snp 733.77 0/1 99 248 180 68 0.27 exonic rs376695472 CTBP2 AU nonsynonymous SNV NM_022802 exon4 c.T2036C p.I679T 0 D 0.988 D -0.464 T 0.071 T 0.56 T Pathogenic 10_126686687_A->G 10 126686687 126686687 A G snp 1305.77 0/1 99 250 182 68 0.27 exonic CTBP2 AU synonymous SNV NM_022802 exon4 c.T2031C p.S677S Uncertain 10_126686690_G->A 10 126686690 126686690 G A snp 153.77 0/1 99 250 228 22 0.09 exonic CTBP2 AU synonymous SNV NM_022802 exon4 c.C2028T p.D676D Uncertain 10_126686692_C->T 10 126686692 126686692 C T snp 154.77 0/1 99 250 228 22 0.09 exonic CTBP2 AU nonsynonymous SNV NM_022802 exon4 c.G2026A p.D676N 0 D 1 D 0.794 D 0.992 D 0.907 D Pathogenic 10_126686693_C->G 10 126686693 126686693 C G snp 1226.77 0/1 99 250 182 68 0.27 exonic rs113916026 CTBP2 AU synonymous SNV NM_022802 exon4 c.G2025C p.A675A Uncertain 10_126686714_A->G 10 126686714 126686714 A G snp 1035.77 0/1 99 249 199 50 0.2 exonic rs79189060 CTBP2 AU synonymous SNV NM_022802 exon4 c.T2004C p.S668S 3.44e-05 0.0005 Uncertain 10_126686724_T->C 10 126686724 126686724 T C snp 315.77 0/1 99 238 212 26 0.11 exonic rs75044667 CTBP2 AU nonsynonymous SNV NM_022802 exon4 c.A1994G p.N665S 0.01 T 1.000 D 0.703 D 0.891 T 0.696 P Pathogenic 10_126686726_G->T 10 126686726 126686726 G T snp 80.77 0/1 99 237 220 17 0.07 exonic CTBP2 AU stopgain NM_022802 exon4 c.C1992A p.C664X 1 T 1 A Pathogenic 10_126686732_G->A 10 126686732 126686732 G A snp 625.77 0/1 99 228 195 33 0.14 exonic rs764494778 CTBP2 AU synonymous SNV NM_022802 exon4 c.C1986T p.A662A 0 0 Uncertain 10_126686762_C->T 10 126686762 126686762 C T snp 1946.77 0/1 99 173 91 82 0.47 intronic rs72828989 CTBP2 AU NM_001083914 exon6 c.8653+23C>T 0.0513179 0.004 0.078409 0.1258 0.0122 Uncertain 10_126686827_T->A 10 126686827 126686827 T A snp 1044.77 0/1 99 79 37 42 0.53 intronic rs1982225 CTBP2 AU NM_001083914 exon6 c.8653+88T>A 0.829872 0.9415 Uncertain 10_126691539_G->A 10 126691539 126691539 G A snp 928.77 0/1 99 55 17 38 0.69 exonic rs148802158 CTBP2 AU synonymous SNV NM_022802 exon3 c.C1968T p.A656A 0.000077 1.669e-05 0 ID=COSM1346595,COSM1346594;OCCURENCE=1(large_intestine) Uncertain 10_126691552_T->G 10 126691552 126691552 T G snp 1158.77 0/1 99 83 30 53 0.64 exonic CTBP2 AU nonsynonymous SNV NM_022802 exon3 c.A1955C p.D652A 0 D 1 D 1.048 D 0.997 D 0.926 D Pathogenic 10_126691563_A->G 10 126691563 126691563 A G snp 1299.77 0/1 99 96 37 59 0.61 exonic CTBP2 AU synonymous SNV NM_022802 exon3 c.T1944C p.Y648Y Uncertain 10_126691575_T->C 10 126691575 126691575 T C snp 1316.77 0/1 99 108 47 61 0.56 exonic rs112239066 CTBP2 AU nonsynonymous SNV NM_022802 exon3 c.A1932G p.I644M 0.01 T 1.000 D -0.750 T 0.328 T 0.722 T Pathogenic 10_126691577_T->C 10 126691577 126691577 T C snp 1289.77 0/1 99 109 48 61 0.56 exonic rs112508291 CTBP2 AU nonsynonymous SNV NM_022802 exon3 c.A1930G p.I644V 0.02 T 1.000 D -0.924 T 0.269 T 0.279 T Pathogenic 10_126691579_C->T 10 126691579 126691579 C T snp 1289.77 0/1 99 111 51 60 0.54 exonic rs760489730 CTBP2 AU nonsynonymous SNV NM_022802 exon3 c.G1928A p.R643Q 0.01 T 1.000 D -0.368 T 0.997 D 0.955 D Pathogenic 10_126691605_C->A 10 126691605 126691605 C A snp 1513.77 0/1 99 139 64 75 0.54 exonic rs201760950 CTBP2 AU nonsynonymous SNV NM_022802 exon3 c.G1902T p.K634N 0.02 T 1.000 D -0.828 T 0.986 D 0.89 D Pathogenic 10_126691608_C->T 10 126691608 126691608 C T snp 1523.77 0/1 99 141 64 77 0.55 exonic rs200173220 CTBP2 AU synonymous SNV NM_022802 exon3 c.G1899A p.E633E Uncertain 10_126691617_C->T 10 126691617 126691617 C T snp 500.77 0/1 99 151 119 32 0.21 exonic CTBP2 AU synonymous SNV NM_022802 exon3 c.G1890A p.E630E Uncertain 10_126691631_T->A 10 126691631 126691631 T A snp 1511.77 0/1 99 160 85 75 0.47 exonic rs3198936 CTBP2 AU nonsynonymous SNV NM_022802 exon3 c.A1876T p.T626S 0.02 T 0.997 D -0.330 T 0.041 T 0.069 T ID=COSM4144453,COSM4144454;OCCURENCE=1(thyroid) Pathogenic 10_126691634_T->A 10 126691634 126691634 T A snp 1475.77 0/1 99 159 86 73 0.46 exonic rs75794788 CTBP2 AU nonsynonymous SNV NM_022802 exon3 c.A1873T p.I625F 0 D 1 D -0.651 T 0.972 D 0.946 D ID=COSM4144455,COSM4144456;OCCURENCE=1(thyroid) Pathogenic 10_126691660_G->A 10 126691660 126691660 G A snp 1295.77 0/1 99 154 92 62 0.4 exonic rs3198935 CTBP2 AU nonsynonymous SNV NM_022802 exon3 c.C1847T p.A616V 0.18 T 1 D -0.734 T 0.997 D 0.948 D Pathogenic 10_126691919_T->C 10 126691919 126691919 T C snp 198.77 0/1 99 56 35 21 0.38 exonic CTBP2 AU synonymous SNV NM_022802 exon2 c.A1821G p.E607E ID=COSM3747144,COSM3747145;OCCURENCE=1(liver) Likely pathogenic 10_126691926_G->A 10 126691926 126691926 G A snp 233.77 0/1 99 64 41 23 0.36 exonic rs768573864 CTBP2 AU nonsynonymous SNV NM_022802 exon2 c.C1814T p.T605M 1.698e-05 0 0 D 1 D 0.559 D 0.998 D 0.934 D Pathogenic 10_126691928_C->G 10 126691928 126691928 C G snp 236.77 0/1 99 66 42 24 0.36 exonic rs3198931 CTBP2 AU synonymous SNV NM_022802 exon2 c.G1812C p.S604S Uncertain 10_126691934_C->A 10 126691934 126691934 C A snp 227.77 0/1 99 72 47 25 0.35 exonic rs766200235 CTBP2 AU synonymous SNV NM_022802 exon2 c.G1806T p.A602A 1.699e-05 0.0002 Uncertain 10_126691937_G->C 10 126691937 126691937 G C snp 227.77 0/1 99 74 49 25 0.34 exonic rs1058301 CTBP2 AU nonsynonymous SNV NM_022802 exon2 c.C1803G p.D601E 0.03 T 0.998 D -0.808 T 0.34 T 0.426 T Pathogenic 10_126691951_C->- 10 126691951 126691951 C - indel 628.73 0/1 99 82 60 22 0.27 exonic rs3198927 CTBP2 AU frameshift deletion NM_022802 exon2 c.1789delG p.V597fs Pathogenic 10_126691952_A->G 10 126691952 126691952 A G snp 372.77 0/1 99 99 64 35 0.35 exonic rs371690339 CTBP2 AU synonymous SNV NM_022802 exon2 c.T1788C p.T596T 0.000385 8.511e-06 0 Uncertain 10_126691979_C->G 10 126691979 126691979 C G snp 481.77 0/1 99 128 81 47 0.37 exonic rs74705267 CTBP2 AU nonsynonymous SNV NM_022802 exon2 c.G1761C p.E587D 0.06 T 1.000 D -0.558 T 0.421 T 0.528 T ID=COSM4144460,COSM4144459;OCCURENCE=1(thyroid) Pathogenic 10_126691994_G->C 10 126691994 126691994 G C snp 440.77 0/1 99 129 82 47 0.36 exonic CTBP2 AU synonymous SNV NM_022802 exon2 c.C1746G p.R582R Uncertain 10_126691997_G->T 10 126691997 126691997 G T snp 406.77 0/1 99 129 84 45 0.35 exonic CTBP2 AU synonymous SNV NM_022802 exon2 c.C1743A p.G581G Uncertain 10_126692000_G->A 10 126692000 126692000 G A snp 422.77 0/1 99 132 87 45 0.34 exonic rs3198923 CTBP2 AU synonymous SNV NM_022802 exon2 c.C1740T p.D580D 6.101e-05 0.0001 Uncertain 10_126692009_C->A 10 126692009 126692009 C A snp 430.77 0/1 99 131 86 45 0.34 exonic CTBP2 AU synonymous SNV NM_022802 exon2 c.G1731T p.A577A Uncertain 10_126692017_G->C 10 126692017 126692017 G C snp 235.77 0/1 99 115 89 26 0.23 exonic rs3198920 CTBP2 AU nonsynonymous SNV NM_022802 exon2 c.C1723G p.L575V 0.06 T 1.000 D -0.711 T 0.997 D 0.971 D Pathogenic 10_126692019_G->A 10 126692019 126692019 G A snp 201.77 0/1 99 112 90 22 0.2 exonic CTBP2 AU nonsynonymous SNV NM_022802 exon2 c.C1721T p.P574L 0 D 1 D -0.394 T 1.0 D 0.998 D Pathogenic 10_126692029_G->T 10 126692029 126692029 G T snp 156.77 0/1 99 107 89 18 0.17 exonic CTBP2 AU nonsynonymous SNV NM_022802 exon2 c.C1711A p.H571N 0.03 T 1.000 D 0.171 D 0.926 T 0.711 D Pathogenic 10_126692035_G->T 10 126692035 126692035 G T snp 181.77 0/1 99 107 87 20 0.19 exonic CTBP2 AU nonsynonymous SNV NM_022802 exon2 c.C1705A p.P569T 0 D 1 D 0.518 D 0.987 D 0.766 D Pathogenic 10_126692037_C->A 10 126692037 126692037 C A snp 181.77 0/1 99 106 87 19 0.18 exonic rs368195398 CTBP2 AU nonsynonymous SNV NM_022802 exon2 c.G1703T p.G568V 0.000079 9.126e-06 0 0.08 T 1 D 0.404 D 0.986 D 0.674 D Pathogenic 10_126692039_G->T 10 126692039 126692039 G T snp 168.77 0/1 99 106 86 20 0.19 exonic CTBP2 AU nonsynonymous SNV NM_022802 exon2 c.C1701A p.N567K 0 D 1.000 D -0.145 T 0.936 T 0.548 D Pathogenic 10_126692066_C->A 10 126692066 126692066 C A snp 1034.77 0/1 99 79 34 45 0.57 splicing rs750600 CTBP2 AU NM_001083914 exon8 c.13975+5C>A 0.0451278 0.004 0.060338 0.0842 0.0078 Pathogenic 10_126692193_C->T 10 126692193 126692193 C T snp 273.77 0/1 99 14 5 9 0.64 intronic rs750599 CTBP2 AU NM_001083914 exon8 c.13975+132C>T 0.423123 0.2609 Uncertain 10_126714714_G->C 10 126714714 126714714 G C snp 1265.77 0/1 99 98 47 51 0.52 exonic rs2946994 CTBP2 AU nonsynonymous SNV NM_022802 exon1 c.C1615G p.Q539E 0.467652 0.6607 0.458096 0.4852 0.6365 0.09 T 1.0 P -0.902 T 0.925 T 0.513 D Pathogenic 10_126714966_A->G 10 126714966 126714966 A G snp 1430.77 0/1 99 92 37 55 0.6 exonic rs3012075 CTBP2 AU nonsynonymous SNV NM_022802 exon1 c.T1363C p.Y455H 0.447883 0.6597 0.440317 0.4791 0.6376 0.03 T 1.000 P -0.944 T 0.001 T 0.003 T Pathogenic 10_126715075_T->C 10 126715075 126715075 T C snp 484.77 0/1 99 65 41 24 0.37 exonic rs3781413 CTBP2 AU synonymous SNV NM_022802 exon1 c.A1254G p.A418A 0.121605 0.0456 0.114816 0.1662 0.0640 Uncertain 10_126715154_A->G 10 126715154 126715154 A G snp 421.77 0/1 99 54 35 19 0.35 exonic rs3781412 CTBP2 AU nonsynonymous SNV NM_022802 exon1 c.T1175C p.L392P 0.323482 0.2897 0.278442 0.3865 0.3939 0 D 1.000 P -1.012 T 0.986 D 0.858 D Pathogenic 10_126715436_C->T 10 126715436 126715436 C T snp 2495.77 0/1 99 193 86 107 0.55 exonic rs3781411 CTBP2 AU nonsynonymous SNV NM_022802 exon1 c.G893A p.R298Q 0.122005 0.0456 0.121175 0.1395 0.0469 0 D 1.0 P -1.254 T 0.999 D 0.873 D Pathogenic 10_126716346_C->T 10 126716346 126716346 C T snp 698.77 0/1 99 74 41 33 0.45 UTR5 rs2938006 CTBP2 AU 0.454273 0.6597 0.444788 0.5317 0.6632 Uncertain 10_126721441_C->A 10 126721441 126721441 C A snp 1043.77 0/1 99 127 76 51 0.4 upstream rs2839737 MIR4296 AU 0.401158 0.6567 0.4471 0.6029 Uncertain 10_127426430_A->G 10 127426430 127426430 A G snp 1428.77 0/1 99 130 65 65 0.5 intronic rs3740181 EDRF1 AU NM_015608 exon13 c.18110-56A>G 0.589058 0.7639 0.620894 Uncertain 10_127426588_C->A 10 127426588 127426588 C A snp 1237.77 0/1 99 119 63 56 0.47 intronic rs3740180 EDRF1 AU NM_015608 exon13 c.18182+30C>A 0.73722 0.8948 0.733661 0.7360 0.8890 Uncertain 10_127426835_G->T 10 127426835 127426835 G T snp 780.77 0/1 99 60 25 35 0.58 intronic rs3943225 EDRF1 AU NM_015608 exon14 c.18487-28G>T 0.875998 0.9147 0.863406 0.8742 0.9144 Uncertain 10_127436048_C->T 10 127436048 127436048 C T snp 1079.77 0/1 99 86 43 43 0.5 ncRNA_intronic rs2296833 EDRF1-AS1 AU 0.29353 0.4058 Uncertain 10_127436411_T->C 10 127436411 127436411 T C snp 2032.77 0/1 99 200 106 94 0.47 ncRNA_intronic rs2296832 EDRF1-AS1 AU 0.70008 0.8889 0.688990 0.7236 0.8818 Uncertain 10_127441573_G->T 10 127441573 127441573 G T snp 878.77 0/1 99 83 47 36 0.43 intronic rs10751530 EDRF1 AU NM_015608 exon22 c.33107+90G>T 0.664137 0.8879 Uncertain 10_127445408_G->T 10 127445408 127445408 G T snp 280.77 0/1 99 20 7 13 0.65 intronic rs4962313 EDRF1 AU NM_015608 exon23 c.34038+2994G>T 0.585064 0.7649 0.7603 0.7603 0.19 T 0.0 P -0.991 T Uncertain 10_127460753_G->A 10 127460753 127460753 G A snp 632.77 0/1 99 56 29 27 0.48 intronic rs7922546 MMP21 AR NM_147191 exon4 c.5556-33G>A 0.254393 0.1667 0.303398 0.3318 0.1666 Uncertain 10_127462525_A->G 10 127462525 127462525 A G snp 4481.77 1/1 99 174 0 174 1.0 exonic rs10901425 MMP21 AR nonsynonymous SNV NM_147191 exon2 c.T572C p.V191A 0.738818 0.7619 0.790407 0.7766 0.7087 0.64 T 0.0 P -0.979 T 0.0 T 0.002 T Pathogenic 10_127483573_G->A 10 127483573 127483573 G A snp 2818.77 1/1 99 105 0 105 1.0 intronic rs3740179 UROS AR NM_000375 exon2 c.6111+26G>A 0.401158 0.3115 0.444103 0.4110 0.2763 Uncertain 10_127484617_C->G 10 127484617 127484617 C G snp 881.77 1/1 66 27 0 27 1.0 intronic rs2281955 UROS AR NM_000375 exon3 c.7235-54C>G 0.400559 0.3065 0.434297 Uncertain 10_127484653_G->A 10 127484653 127484653 G A snp 1162.77 1/1 84 46 0 46 1.0 intronic rs2281954 UROS AR NM_000375 exon3 c.7235-18G>A 0.395966 0.2857 0.444026 0.4095 0.2516 Uncertain 10_127484957_G->T 10 127484957 127484957 G T snp 164.78 0/1 24 6 1 5 0.83 intronic rs2281953 UROS AR NM_000375 exon3 c.7321+200G>T 0.89976 0.8562 Uncertain 10_127486885_C->T 10 127486885 127486885 C T snp 220.84 1/1 18 6 0 6 1.0 intronic rs10901437 UROS AR NM_000375 exon4 c.9278+171C>T 0.381789 0.3006 Uncertain 10_127491733_T->- 10 127491733 127491733 T - indel 1525.73 1/1 99 40 0 40 1.0 intronic rs74366862 UROS AR NM_000375 exon5 c.18545-4248delT 0.387979 0.3105 Uncertain 10_127495832_T->C 10 127495832 127495832 T C snp 54.74 1/1 6 2 0 2 1.0 intronic rs2027515 UROS AR NM_000375 exon5 c.18545-149T>C 0.692292 0.7024 Uncertain 10_127500718_C->G 10 127500718 127500718 C G snp 2003.77 1/1 99 61 0 61 1.0 intronic rs10901444 UROS AR NM_000375 exon6 c.23346-64C>G 0.391374 0.3115 Uncertain 10_127504660_A->G 10 127504660 127504660 A G snp 2733.77 1/1 99 93 0 93 1.0 intronic rs2366044 UROS AR NM_000375 exon8 c.27309-85A>G 0.996605 1 Uncertain 10_127515069_C->T 10 127515069 127515069 C T snp 804.77 1/1 60 24 0 24 1.0 intronic rs10159992 BCCIP AU NM_078468 exon2 c.3033-90C>T 0.441294 0.3204 Uncertain 10_127520313_A->G 10 127520313 127520313 A G snp 40.77 0/1 69 5 3 2 0.4 intronic rs11596442 BCCIP AU NM_078468 exon5 c.8050+137A>G 0.178115 0.1508 Uncertain 10_127522572_T->G 10 127522572 127522572 T G snp 483.77 1/1 36 16 0 16 1.0 intronic rs3740206 BCCIP AU NM_078468 exon6 c.10389+57T>G 0.402955 0.3175 0.4226 0.2893 Uncertain 10_127524612_C->T 10 127524612 127524612 C T snp 2015.77 1/1 99 62 0 62 1.0 intronic rs4075326 BCCIP AU NM_078468 exon7 c.12546-60C>T 0.44349 0.3145 Uncertain 10_127529756_-->TG 10 127529756 127529756 - TG indel 3030.73 0/1 99 199 109 90 0.45 intronic rs146907010 DHX32 AU NM_018180 exon4 c.4310+191insTG 0.335463 0.5238 Uncertain 10_127530325_T->C 10 127530325 127530325 T C snp 4606.77 1/1 99 170 0 170 1.0 exonic rs3208565 DHX32 AU synonymous SNV NM_018180 exon7 c.A1530G p.A510A 0.454073 0.3234 0.498539 0.4339 0.2866 Uncertain 10_127548587_C->G 10 127548587 127548587 C G snp 819.77 1/1 60 32 0 32 1.0 intronic rs1539315 DHX32 AU NM_018180 exon9 c.23289+43C>G 0.899161 0.8591 0.919705 0.9274 0.8322 Uncertain 10_127584927_G->C 10 127584927 127584927 G C snp 209.77 0/1 99 19 12 7 0.37 upstream rs5014353 FANK1 AU Uncertain 10_127584928_G->A 10 127584928 127584928 G A snp 240.77 0/1 99 21 13 8 0.38 upstream rs5014354 FANK1 AU Uncertain 10_127584960_G->A 10 127584960 127584960 G A snp 177.77 0/1 99 104 92 12 0.12 upstream rs77731395 FANK1 AU Uncertain 10_127584976_G->C 10 127584976 127584976 G C snp 1739.77 0/1 99 161 100 61 0.38 upstream rs74162868 FANK1 AU Uncertain 10_127584977_G->A 10 127584977 127584977 G A snp 72.77 0/1 99 162 149 13 0.08 upstream rs74687888 FANK1 AU Uncertain 10_127584978_A->G 10 127584978 127584978 A G snp 4075.77 0/1 99 167 35 132 0.79 upstream rs5006357 FANK1 AU Uncertain 10_127584983_T->C 10 127584983 127584983 T C snp 281.77 0/1 99 197 173 24 0.12 upstream rs77434588 FANK1 AU Uncertain 10_127585006_G->T 10 127585006 127585006 G T snp 2105.77 0/1 99 250 170 80 0.32 upstream rs76764477 FANK1 AU Uncertain 10_127585011_C->G 10 127585011 127585011 C G snp 2030.77 0/1 99 250 175 75 0.3 upstream rs370315594 FANK1 AU Uncertain 10_127585012_C->G 10 127585012 127585012 C G snp 2998.77 0/1 99 250 141 109 0.44 upstream rs77627869 FANK1 AU Uncertain 10_127585015_G->A 10 127585015 127585015 G A snp 488.77 0/1 99 250 190 60 0.24 upstream rs79042596 FANK1 AU Uncertain 10_127585027_C->A 10 127585027 127585027 C A snp 470.77 0/1 99 248 215 33 0.13 upstream rs5014355 FANK1 AU Uncertain 10_127585033_C->T 10 127585033 127585033 C T snp 1972.77 0/1 99 249 169 80 0.32 upstream rs74537012 FANK1 AU Uncertain 10_127585035_C->G 10 127585035 127585035 C G snp 677.77 0/1 99 250 209 41 0.16 upstream rs113524015 FANK1 AU 0.408746 0.3651 Uncertain 10_127585040_G->A 10 127585040 127585040 G A snp 6217.77 0/1 99 249 35 214 0.86 upstream rs5006358 FANK1 AU Uncertain 10_127585087_C->T 10 127585087 127585087 C T snp 377.77 0/1 99 250 219 31 0.12 upstream rs374015631 FANK1 AU Uncertain 10_127585090_C->A 10 127585090 127585090 C A snp 3537.77 0/1 99 250 76 174 0.7 upstream rs74635147 FANK1 AU Uncertain 10_127585091_G->A 10 127585091 127585091 G A snp 309.77 0/1 99 250 219 31 0.12 upstream rs75232355 FANK1 AU Uncertain 10_127585097_T->C 10 127585097 127585097 T C snp 6229.77 0/1 99 245 48 197 0.8 upstream rs78188902 FANK1 AU Uncertain 10_127585099_A->G 10 127585099 127585099 A G snp 6196.77 0/1 99 246 49 197 0.8 upstream rs79920605 FANK1 AU Uncertain 10_127585104_T->A 10 127585104 127585104 T A snp 980.77 0/1 99 250 199 51 0.2 upstream rs76843791 FANK1 AU Uncertain 10_127585106_C->A 10 127585106 127585106 C A snp 553.77 0/1 99 250 213 37 0.15 upstream rs78181470 FANK1 AU Uncertain 10_127585112_T->C 10 127585112 127585112 T C snp 6047.77 0/1 99 249 52 197 0.79 UTR5 rs72832617 FANK1 AU Uncertain 10_127585113_C->T 10 127585113 127585113 C T snp 238.77 0/1 99 248 223 25 0.1 UTR5 rs79612842 FANK1 AU Uncertain 10_127585120_G->C 10 127585120 127585120 G C snp 3192.79 0/1 99 250 137 113 0.45 UTR5 rs80288044 FANK1 AU Uncertain 10_127585121_G->T 10 127585121 127585121 G T snp 408.77 0/1 99 250 219 31 0.12 UTR5 rs75261051 FANK1 AU Uncertain 10_127585150_C->A 10 127585150 127585150 C A snp 3172.77 0/1 99 250 133 117 0.47 UTR5 rs74162870 FANK1 AU Uncertain 10_127585169_G->C 10 127585169 127585169 G C snp 1057.77 0/1 99 249 198 51 0.2 UTR5 rs78734655 FANK1 AU 0.2084 0.1953 Uncertain 10_127585173_T->C 10 127585173 127585173 T C snp 4026.77 0/1 99 246 103 143 0.58 UTR5 rs4010025 FANK1 AU 0.4507 0.4608 Uncertain 10_127585176_G->C 10 127585176 127585176 G C snp 135.77 0/1 99 248 226 22 0.09 UTR5 rs199944913 FANK1 AU 0.0325 0.0711 Uncertain 10_127585179_G->C 10 127585179 127585179 G C snp 5697.77 0/1 99 246 55 191 0.78 UTR5 rs74162871 FANK1 AU 0.443091 0.4365 0.5147 0.5133 Uncertain 10_127585195_C->G 10 127585195 127585195 C G snp 222.77 0/1 99 248 221 27 0.11 UTR5 rs142833172 FANK1 AU Uncertain 10_127585208_G->A 10 127585208 127585208 G A snp 958.77 0/1 99 250 200 50 0.2 UTR5 rs79274552 FANK1 AU 0.2372 0.2138 Uncertain 10_127585237_C->T 10 127585237 127585237 C T snp 1200.77 0/1 99 231 147 84 0.36 intronic rs5013589 FANK1 AU NM_145235 exon1 c.13+13C>T 0.3457 0.3239 Uncertain 10_127585238_G->A 10 127585238 127585238 G A snp 36.77 0/1 65 225 204 21 0.09 intronic rs148621471 FANK1 AU NM_145235 exon1 c.13+14G>A 0.0920 0.1771 Uncertain 10_127585240_G->A 10 127585240 127585240 G A snp 617.77 0/1 99 219 181 38 0.17 intronic rs5013161 FANK1 AU NM_145235 exon1 c.13+16G>A 0.3418 0.3435 Uncertain 10_127585260_G->T 10 127585260 127585260 G T snp 1113.77 0/1 99 170 74 96 0.56 intronic rs4986789 FANK1 AU NM_145235 exon1 c.13+36G>T 0.2922 0.2609 Uncertain 10_127585263_C->T 10 127585263 127585263 C T snp 877.77 0/1 99 168 113 55 0.33 intronic rs5013162 FANK1 AU NM_145235 exon1 c.13+39C>T 0.4144 0.4330 Uncertain 10_127585273_G->A 10 127585273 127585273 G A snp 349.77 0/1 99 146 120 26 0.18 intronic rs5013163 FANK1 AU NM_145235 exon1 c.13+49G>A 0.3263 0.3074 Uncertain 10_127585282_C->T 10 127585282 127585282 C T snp 60.77 0/1 89 133 123 10 0.08 intronic rs77169689 FANK1 AU NM_145235 exon1 c.13+58C>T Uncertain 10_127585288_C->A 10 127585288 127585288 C A snp 945.77 0/1 99 125 83 42 0.34 intronic rs5013590 FANK1 AU NM_145235 exon1 c.13+64C>A Uncertain 10_127585304_G->A 10 127585304 127585304 G A snp 81.77 0/1 99 86 76 10 0.12 intronic rs5013164 FANK1 AU NM_145235 exon1 c.13+80G>A Uncertain 10_127585307_C->T 10 127585307 127585307 C T snp 486.77 0/1 99 81 60 21 0.26 intronic rs74579856 FANK1 AU NM_145235 exon1 c.13+83C>T 0.450679 0.4355 Uncertain 10_127585309_C->G 10 127585309 127585309 C G snp 107.77 0/1 99 79 70 9 0.11 intronic rs138199694 FANK1 AU NM_145235 exon1 c.13+85C>G Uncertain 10_127585316_G->T 10 127585316 127585316 G T snp 62.77 0/1 91 67 59 8 0.12 intronic rs113284764 FANK1 AU NM_145235 exon1 c.13+92G>T Uncertain 10_127585328_G->T 10 127585328 127585328 G T snp 67.77 0/1 96 56 49 7 0.13 intronic rs540043742 FANK1 AU NM_145235 exon1 c.13+104G>T Uncertain 10_127585360_C->A 10 127585360 127585360 C A snp 331.77 0/1 99 20 8 12 0.6 intronic rs78190003 FANK1 AU NM_145235 exon1 c.13+136C>A Uncertain 10_127585363_G->A 10 127585363 127585363 G A snp 327.77 0/1 99 16 5 11 0.69 intronic rs74162872 FANK1 AU NM_145235 exon1 c.13+139G>A Uncertain 10_127585374_C->T 10 127585374 127585374 C T snp 357.28 0/1 9 11 1 10 0.91 intronic rs5013165 FANK1 AU NM_145235 exon1 c.13+150C>T Uncertain 10_127585389_G->A 10 127585389 127585389 G A snp 34.77 0/1 63 7 5 2 0.29 intronic rs5013166 FANK1 AU NM_145235 exon1 c.13+165G>A Uncertain 10_127668317_G->A 10 127668317 127668317 G A snp 4311.77 1/1 99 147 0 147 1.0 intronic rs11244744 FANK1 AU NM_145235 exon2 c.83518-412G>A 0.388778 0.3145 Uncertain 10_127668431_A->G 10 127668431 127668431 A G snp 5376.77 1/1 99 206 0 206 1.0 intronic rs11244745 FANK1 AU NM_145235 exon2 c.83518-298A>G 0.388778 0.3145 0.4351 0.2879 Uncertain 10_127668487_G->A 10 127668487 127668487 G A snp 3599.77 1/1 99 116 0 116 1.0 intronic rs2176097 FANK1 AU NM_145235 exon2 c.83518-242G>A 0.388778 0.3145 Uncertain 10_127668610_C->T 10 127668610 127668610 C T snp 1458.77 1/1 99 41 0 41 1.0 intronic rs2138275 FANK1 AU NM_145235 exon2 c.83518-119C>T 0.388778 0.3145 Uncertain 10_127677374_A->G 10 127677374 127677374 A G snp 1174.77 1/1 84 37 0 37 1.0 intronic rs2280173 FANK1 AU NM_145235 exon3 c.92033+130A>G 0.330072 0.3333 0.4425 0.4048 0.0 P -0.906 T 0.051 T 0.01 T Uncertain 10_127677676_G->A 10 127677676 127677676 G A snp 56.74 1/1 6 2 0 2 1.0 intronic rs2277217 FANK1 AU NM_145235 exon3 c.92033+432G>A 0.326877 0.3254 Uncertain 10_127683882_C->T 10 127683882 127683882 C T snp 178.77 0/1 99 14 7 7 0.5 intronic rs112629820 FANK1 AU NM_145235 exon4 c.98774-103C>T 0.000998403 Uncertain 10_127684240_A->G 10 127684240 127684240 A G snp 949.77 1/1 72 24 0 24 1.0 intronic rs2271647 FANK1 AU NM_145235 exon4 c.98856+173A>G 0.693291 0.7956 Uncertain 10_127685091_T->C 10 127685091 127685091 T C snp 6113.77 1/1 99 222 0 222 1.0 intronic rs3736477 FANK1 AU NM_145235 exon5 c.99907-27T>C 0.618211 0.7748 0.616254 0.6522 0.7545 Uncertain 10_127685323_C->T 10 127685323 127685323 C T snp 216.84 1/1 18 6 0 6 1.0 intronic rs10901503 FANK1 AU NM_145235 exon5 c.99982+130C>T 0.333267 0.3294 Uncertain 10_127693432_C->T 10 127693432 127693432 C T snp 2448.77 1/1 99 90 0 90 1.0 intronic rs2138283 FANK1 AU NM_145235 exon7 c.108241-20C>T 0.996605 1 0.991773 0.9932 1 Uncertain 10_127697165_T->G 10 127697165 127697165 T G snp 818.77 1/1 60 26 0 26 1.0 intronic rs2292690 FANK1 AU NM_145235 exon8 c.111908+46T>G 0.633786 0.7877 0.634476 0.6588 0.7713 Uncertain 10_127706028_C->T 10 127706028 127706028 C T snp 93.28 1/1 9 3 0 3 1.0 intronic rs3781001 ADAM12 AU NM_001288973 exon1 c.61+120C>T 0.332268 0.3294 Uncertain 10_127708091_A->G 10 127708091 127708091 A G snp 600.77 1/1 45 15 0 15 1.0 intronic rs2176099 ADAM12 AU NM_001288973 exon2 c.2416-172A>G 0.542133 0.623 Uncertain 10_127708092_G->T 10 127708092 127708092 G T snp 598.77 1/1 45 15 0 15 1.0 intronic rs2176098 ADAM12 AU NM_001288973 exon2 c.2416-171G>T 0.695487 0.7837 Uncertain 10_127708428_A->T 10 127708428 127708428 A T snp 1375.77 1/1 99 45 0 45 1.0 intronic rs2138280 ADAM12 AU NM_001288973 exon2 c.2547+34A>T 0.54353 0.63 0.581730 0.6490 0.6710 Uncertain 10_127708468_G->A 10 127708468 127708468 G A snp 565.77 1/1 42 21 0 21 1.0 intronic rs35835884 ADAM12 AU NM_001288973 exon2 c.2547+74G>A 0.329872 0.3294 Uncertain 10_127708503_G->C 10 127708503 127708503 G C snp 305.78 1/1 24 9 0 9 1.0 intronic rs2292694 ADAM12 AU NM_001288973 exon2 c.2547+109G>C 0.543131 0.63 Uncertain 10_127727913_G->A 10 127727913 127727913 G A snp 2846.77 0/1 99 214 100 114 0.53 exonic rs56651369 ADAM12 AU synonymous SNV NM_003474 exon19 c.C2199T p.T733T 0.013778 0.0625 0.000384 0.0077 0.0896 ID=COSM147081,COSM147082;OCCURENCE=1(stomach) Uncertain 10_127730728_C->T 10 127730728 127730728 C T snp 856.77 0/1 99 86 51 35 0.41 intronic rs34265990 ADAM12 AU NM_021641 exon1 c.104-76C>T 0.179313 0.3383 0.076580 0.0851 0.2994 Uncertain 10_127734486_C->T 10 127734486 127734486 C T snp 686.77 1/1 51 20 0 20 1.0 intronic rs1710312 ADAM12 AU NM_021641 exon3 c.3923-137C>T 0.437101 0.5863 Uncertain 10_127734513_A->C 10 127734513 127734513 A C snp 1722.77 1/1 99 53 0 53 1.0 intronic rs1710313 ADAM12 AU NM_021641 exon3 c.3923-110A>C 0.624601 0.6151 Uncertain 10_127755544_T->G 10 127755544 127755544 T G snp 1411.77 1/1 99 45 0 45 1.0 intronic rs1278280 ADAM12 AU NM_021641 exon7 c.24675+169T>G 0.846645 0.8909 Uncertain 10_127759943_T->A 10 127759943 127759943 T A snp 415.77 0/1 99 27 13 14 0.52 intronic rs7903316 ADAM12 AU NM_021641 exon8 c.29345-102T>A 0.16254 0.2341 Uncertain 10_127760309_T->C 10 127760309 127760309 T C snp 65.77 0/1 94 10 7 3 0.3 intronic rs2290841 ADAM12 AU NM_021641 exon8 c.29523+86T>C 0.163139 0.2341 Uncertain 10_127786969_A->G 10 127786969 127786969 A G snp 1092.77 0/1 99 97 47 50 0.52 intronic rs2290842 ADAM12 AU NM_021641 exon10 c.56284-15A>G 0.623602 0.6448 0.683454 0.6965 0.6439 Uncertain 10_127829012_C->G 10 127829012 127829012 C G snp 399.77 1/1 30 13 0 13 1.0 intronic rs1551678 ADAM12 AU NM_021641 exon15 c.93529+4783C>G 0.460663 0.3591 Uncertain 10_127829043_G->A 10 127829043 127829043 G A snp 217.77 0/1 99 28 17 11 0.39 intronic rs71490760 ADAM12 AU NM_021641 exon15 c.93529+4814G>A 0.194888 0.1528 Uncertain 10_127843600_T->C 10 127843600 127843600 T C snp 102.77 0/1 99 9 5 4 0.44 intronic rs1466357 ADAM12 AU NM_021641 exon16 c.113086-186T>C 0.544529 0.7202 Uncertain 10_127843641_T->C 10 127843641 127843641 T C snp 325.77 0/1 99 22 12 10 0.45 intronic rs1466358 ADAM12 AU NM_021641 exon16 c.113086-145T>C 0.538738 0.7202 Uncertain 10_127843740_G->T 10 127843740 127843740 G T snp 1284.77 0/1 99 151 94 57 0.38 intronic rs1466359 ADAM12 AU NM_021641 exon16 c.113086-46G>T 0.538738 0.7202 0.398278 0.4703 0.7839 Uncertain 10_127843756_G->A 10 127843756 127843756 G A snp 1452.77 0/1 99 166 99 67 0.4 intronic rs1466360 ADAM12 AU NM_021641 exon16 c.113086-30G>A 0.544529 0.7202 0.407966 0.4724 0.7842 Uncertain 10_127843921_T->C 10 127843921 127843921 T C snp 897.77 0/1 99 65 30 35 0.54 intronic rs1466361 ADAM12 AU NM_021641 exon16 c.113174+47T>C 0.538738 0.7202 0.398816 0.4714 0.7842 Uncertain 10_128019025_C->G 10 128019025 128019025 C G snp 2467.77 1/1 99 89 0 89 1.0 exonic rs3740199 ADAM12 AU nonsynonymous SNV NM_003474 exon2 c.G142C p.G48R 0.523363 0.4772 0.571967 0.5504 0.4954 0.4 T 0.0 P -0.932 T 0.0 T 0.0 T ID=CM0910263;DIS=Osteoarthritis in males, association with;TAG=DP;PUB=19268722 DP Pathogenic 10_128147884_C->A 10 128147884 128147884 C A snp 5034.77 1/1 99 168 0 168 1.0 intronic rs7077404 C10orf90 AU NM_001004298 exon4 c.33354+98C>A 0.481629 0.4821 Uncertain 10_128147905_G->A 10 128147905 128147905 G A snp 2259.77 0/1 99 172 89 83 0.48 intronic rs55945416 C10orf90 AU NM_001004298 exon4 c.33354+119G>A 0.150359 0.1181 Uncertain 10_128147954_T->C 10 128147954 128147954 T C snp 2507.77 0/1 99 201 104 97 0.48 intronic rs76537259 C10orf90 AU NM_001004298 exon4 c.33354+168T>C 0.0353435 0.0496 Uncertain 10_128148056_T->C 10 128148056 128148056 T C snp 7544.77 1/1 99 250 0 250 1.0 intronic rs7098669 C10orf90 AU NM_001004298 exon4 c.33354+270T>C 0.48742 0.497 Uncertain 10_128150015_G->C 10 128150015 128150015 G C snp 1798.77 0/1 99 152 70 82 0.54 exonic rs146121361 C10orf90 AU nonsynonymous SNV NM_001004298 exon5 c.C1674G p.D558E 0.00758786 0.0317 0.000308 0.0032 0.0397 0.29 T 1 N -1.010 T 0.1 T 0.032 T Pathogenic 10_128153623_G->A 10 128153623 128153623 G A snp 1160.77 1/1 84 34 0 34 1.0 intronic rs7079392 C10orf90 AU NM_001004298 exon6 c.39123+68G>A 0.491414 0.5228 Uncertain 10_128192985_C->T 10 128192985 128192985 C T snp 5848.77 1/1 99 195 0 195 1.0 exonic rs11245007 C10orf90 AU nonsynonymous SNV NM_001004298 exon3 c.G784A p.D262N 0.500599 0.5099 0.401046 0.3738 0.5014 1 T 0.0 P -0.982 T 0.0 T 0.0 T ID=CM157421;DIS=Breast cancer, protection against, association with;TAG=DFP;PUB=26223354 DFP Pathogenic 10_128193368_C->T 10 128193368 128193368 C T snp 2244.77 0/1 99 180 79 101 0.56 exonic rs11245008 C10orf90 AU nonsynonymous SNV NM_001004298 exon3 c.G401A p.R134H 0.215056 0.129 0.211777 0.1561 0.1345 0.28 T 0.0 P -0.996 T 0.03 T 0.011 T Pathogenic 10_128193754_A->C 10 128193754 128193754 A C snp 166.77 0/1 99 19 13 6 0.32 intronic rs10901623 C10orf90 AU NM_001004298 exon7 c.79222+100A>C 0.11242 0.1399 Uncertain 10_128202435_T->C 10 128202435 128202435 T C snp 4255.77 1/1 99 165 0 165 1.0 exonic rs1436803 C10orf90 AU synonymous SNV NM_001004298 exon2 c.A96G p.A32A 0.875998 0.8571 0.870444 0.8609 0.8528 Uncertain 10_128209769_T->C 10 128209769 128209769 T C snp 839.77 1/1 60 32 0 32 1.0 intronic rs2099552 C10orf90 AU NM_001004298 exon9 c.95435-98T>C 0.894369 0.8552 Uncertain 10_128209797_C->T 10 128209797 128209797 C T snp 839.77 1/1 63 34 0 34 1.0 intronic rs2099553 C10orf90 AU NM_001004298 exon9 c.95435-70C>T 0.89397 0.8552 0.884144 Uncertain 10_128209959_G->T 10 128209959 128209959 G T snp 1324.77 1/1 93 51 0 51 1.0 UTR5 rs4962342 C10orf90 AU 0.890575 0.8552 0.882121 Uncertain 10_128335225_T->C 10 128335225 128335225 T C snp 189.77 0/1 99 37 29 8 0.22 intergenic rs2842149 C10orf90 AU 0.577676 0.5347 0.5926 0.4745 Uncertain 10_128806832_TAACT->- 10 128806832 128806836 TAACT - indel 536.73 0/1 99 20 12 8 0.4 intronic rs10542991 DOCK1 AU NM_001290223 exon11 c.212909-163_212909-159delTAACT 0.250399 0.2738 Uncertain 10_128821616_T->G 10 128821616 128821616 T G snp 1924.77 0/1 99 194 106 88 0.45 intronic rs9418791 DOCK1 AU NM_001290223 exon14 c.227502+28T>G 0.40615 0.371 0.397923 0.3903 0.3957 Uncertain 10_128821636_C->T 10 128821636 128821636 C T snp 1782.77 0/1 99 172 93 79 0.46 intronic rs9418698 DOCK1 AU NM_001290223 exon14 c.227502+48C>T 0.40615 0.371 0.397709 0.3903 0.3950 Uncertain 10_128822812_T->C 10 128822812 128822812 T C snp 146.77 0/1 99 8 3 5 0.63 intronic rs9418797 DOCK1 AU NM_001290223 exon15 c.228862-136T>C 0.348243 0.371 Uncertain 10_128822873_A->G 10 128822873 128822873 A G snp 465.77 0/1 99 36 17 19 0.53 intronic rs3818879 DOCK1 AU NM_001290223 exon15 c.228862-75A>G 0.40615 0.371 Uncertain 10_128822886_G->A 10 128822886 128822886 G A snp 581.77 0/1 99 49 22 27 0.55 intronic rs3818880 DOCK1 AU NM_001290223 exon15 c.228862-62G>A 0.348243 0.371 Uncertain 10_128840842_A->G 10 128840842 128840842 A G snp 407.77 0/1 99 44 27 17 0.39 intronic rs880272 DOCK1 AU NM_001290223 exon20 c.246802-46A>G 0.934505 0.9216 0.921719 0.9293 0.9150 Uncertain 10_128908472_A->G 10 128908472 128908472 A G snp 1855.77 0/1 99 163 96 67 0.41 intronic rs3740012 DOCK1 AU NM_001290223 exon25 c.314425-39A>G 0.2502 0.1617 0.244104 0.1997 0.2078 Uncertain 10_128923954_A->C 10 128923954 128923954 A C snp 820.77 0/1 99 74 39 35 0.47 intronic rs1186355 DOCK1 AU NM_001290223 exon26 c.329779+89A>C 0.822085 0.9494 Uncertain 10_128925761_A->T 10 128925761 128925761 A T snp 98.77 0/1 99 16 11 5 0.31 intronic rs1153016 DOCK1 AU NM_001290223 exon27 c.331846-171A>T 0.822085 0.9494 Uncertain 10_128926013_A->G 10 128926013 128926013 A G snp 1288.77 0/1 99 117 67 50 0.43 exonic rs1060561 DOCK1 AU synonymous SNV NM_001380 exon27 c.A2769G p.R923R 0.74381 0.8423 0.748596 0.8192 0.8286 Uncertain 10_128944080_C->T 10 128944080 128944080 C T snp 40.77 0/1 69 5 3 2 0.4 intronic rs2489392 DOCK1 AU NM_001290223 exon27 c.331942+18052C>T 0.675519 0.7738 Uncertain 10_128952265_A->G 10 128952265 128952265 A G snp 3930.77 1/1 99 134 0 134 1.0 intronic rs7068954 DOCK1 AU NM_001290223 exon27 c.331942+26237A>G 0.951677 0.999 Uncertain 10_128974621_C->T 10 128974621 128974621 C T snp 2491.77 0/1 99 250 145 105 0.42 exonic rs2489386 FAM196A AU synonymous SNV NM_001039762 exon4 c.G39A p.T13T 0.528554 0.7401 0.482467 0.5683 0.7404 Uncertain 10_128974713_C->T 10 128974713 128974713 C T snp 1628.77 0/1 99 178 107 71 0.4 intronic rs2489385 DOCK1 AU NM_001290223 exon27 c.331942+48685C>T 0.529353 0.7411 Uncertain 10_128974716_A->G 10 128974716 128974716 A G snp 4809.77 1/1 99 164 0 164 1.0 intronic rs2489384 DOCK1 AU NM_001290223 exon27 c.331942+48688A>G 0.717053 0.8621 Uncertain 10_129055807_C->G 10 129055807 129055807 C G snp 823.77 0/1 99 64 30 34 0.53 intronic rs11016981 DOCK1 AU NM_001290223 exon29 c.461607+114C>G 0.0183706 0.0694 Uncertain 10_129160313_C->T 10 129160313 129160313 C T snp 2415.77 1/1 99 83 0 83 1.0 intronic rs2296636 DOCK1 AU NM_001290223 exon33 c.566241-14C>T 0.228634 0.2371 0.231213 0.2795 0.2781 Uncertain 10_129160458_G->A 10 129160458 129160458 G A snp 1155.77 0/1 99 106 58 48 0.45 exonic rs2296635 DOCK1 AU synonymous SNV NM_001380 exon33 c.G3351A p.S1117S 0.204273 0.1359 0.237340 0.2434 0.1310 Uncertain 10_129179426_T->C 10 129179426 129179426 T C snp 285.77 0/1 99 25 14 11 0.44 intronic rs7099958 DOCK1 AU NM_001290223 exon37 c.585455-115T>C 0.306709 0.2599 Uncertain 10_129182958_C->T 10 129182958 129182958 C T snp 68.77 0/1 97 8 5 3 0.38 intronic rs878564 DOCK1 AU NM_001290223 exon38 c.588967-95C>T 0.76877 0.7669 Uncertain 10_129183015_T->G 10 129183015 129183015 T G snp 455.77 0/1 99 39 24 15 0.38 intronic rs878562 DOCK1 AU NM_001290223 exon38 c.588967-38T>G 0.769169 0.7669 0.751877 0.7377 0.7660 Uncertain 10_129201649_T->C 10 129201649 129201649 T C snp 99.28 1/1 9 3 0 3 1.0 intronic rs2249656 DOCK1 AU NM_001290223 exon39 c.607322+241T>C 0.558906 0.7728 Uncertain 10_129207514_G->A 10 129207514 129207514 G A snp 6814.77 1/1 99 246 0 246 1.0 intronic rs2296629 DOCK1 AU NM_001290223 exon42 c.613490-62G>A 0.288738 0.4454 Uncertain 10_129208894_A->G 10 129208894 129208894 A G snp 509.77 1/1 39 16 0 16 1.0 intronic rs6482874 DOCK1 AU NM_001290223 exon43 c.615017-209A>G 0.680511 0.7391 Uncertain 10_129208954_T->G 10 129208954 129208954 T G snp 1929.77 1/1 99 64 0 64 1.0 intronic rs11017943 DOCK1 AU NM_001290223 exon43 c.615017-149T>G 0.401957 0.5665 Uncertain 10_129209084_A->G 10 129209084 129209084 A G snp 4776.77 1/1 99 182 0 182 1.0 intronic rs2296628 DOCK1 AU NM_001290223 exon43 c.615017-19A>G 0.401957 0.5665 0.308573 0.4370 0.5995 Uncertain 10_129213586_C->T 10 129213586 129213586 C T snp 2863.77 1/1 99 97 0 97 1.0 intronic rs3736940 DOCK1 AU NM_001290223 exon44 c.619416+84C>T 0.306709 0.4365 Uncertain 10_129213631_A->G 10 129213631 129213631 A G snp 1499.77 1/1 99 47 0 47 1.0 intronic rs3736939 DOCK1 AU NM_001290223 exon44 c.619416+129A>G 0.905751 0.9196 Uncertain 10_129216658_T->C 10 129216658 129216658 T C snp 2107.77 0/1 99 192 102 90 0.47 exonic rs2229600 DOCK1 AU synonymous SNV NM_001380 exon45 c.T4482C p.I1494I 0.31889 0.4296 0.253236 0.3232 0.4642 Uncertain 10_129237580_C->T 10 129237580 129237580 C T snp 1126.77 1/1 84 34 0 34 1.0 intronic rs2275052 DOCK1 AU NM_001290223 exon49 c.643403+91C>T 0.341054 0.38 Uncertain 10_129245967_G->A 10 129245967 129245967 G A snp 261.8 1/1 21 8 0 8 1.0 intronic rs873185 DOCK1 AU NM_001290223 exon51 c.651723+158G>A 0.822883 0.881 Uncertain 10_129249511_G->A 10 129249511 129249511 G A snp 99.28 1/1 9 3 0 3 1.0 intronic rs3740546 DOCK1 AU NM_001290223 exon52 c.655509-84G>A 0.312101 0.5179 Uncertain 10_129249662_G->A 10 129249662 129249662 G A snp 3159.77 1/1 99 115 0 115 1.0 exonic rs2229603 DOCK1 AU nonsynonymous SNV NM_001380 exon52 c.G5569A p.A1857T 0.865016 0.9127 0.876508 0.9407 0.9249 0.39 T 0.000 P -1.028 T 0.0 T 0.0 T Pathogenic 10_129249701_C->G 10 129249701 129249701 C G snp 4137.77 1/1 99 153 0 153 1.0 UTR3 rs2229606 DOCK1 AU 0.855032 0.9127 0.866761 0.9258 0.9050 Uncertain 10_129351051_-->A 10 129351051 129351051 - A indel 129.73 0/1 72 14 3 11 0.79 downstream rs71032570 NPS AU 0.126997 0.0883 Uncertain 10_129534478_-->GCGCGGC 10 129534478 129534478 - GCGCGGC indel 757.75 1/1 24 8 0 8 1.0 intergenic rs147236104 NPS AU 0.9565 1 Uncertain 10_129534679_T->C 10 129534679 129534679 T C snp 3248.77 1/1 99 117 0 117 1.0 upstream rs4751501 FOXI2 AU 0.972244 1 0.9900 1 Uncertain 10_129534739_C->G 10 129534739 129534739 C G snp 4583.77 1/1 99 169 0 169 1.0 upstream rs4751502 FOXI2 AU 0.839257 1 0.8546 1 Uncertain 10_129534864_A->C 10 129534864 129534864 A C snp 5642.77 1/1 99 200 0 200 1.0 upstream rs4751503 FOXI2 AU 0.959864 1 0.9882 1 Uncertain 10_129535104_C->G 10 129535104 129535104 C G snp 154.77 0/1 99 9 4 5 0.56 upstream rs76070677 FOXI2 AU 0.101837 0.1657 Uncertain 10_129536642_G->A 10 129536642 129536642 G A snp 331.78 1/1 27 9 0 9 1.0 intronic rs7085541 FOXI2 AU NM_207426 exon2 c.1246-141G>A 0.839058 1 Uncertain 10_129536648_G->T 10 129536648 129536648 G T snp 457.77 1/1 36 12 0 12 1.0 intronic rs7085544 FOXI2 AU NM_207426 exon2 c.1246-135G>T 0.839058 1 Uncertain 10_129845547_A->C 10 129845547 129845547 A C snp 200.77 0/1 99 37 27 10 0.27 intronic rs4262642 PTPRE AU NM_006504 exon4 c.6508-106A>C 0.783746 0.8323 Uncertain 10_129845903_C->T 10 129845903 129845903 C T snp 1760.77 0/1 99 159 79 80 0.5 UTR5 rs7912703 PTPRE AU 0.333666 0.375 0.306243 0.3734 0.4071 Uncertain 10_129846010_G->A 10 129846010 129846010 G A snp 2640.77 0/1 99 248 133 115 0.46 intronic rs7911904 PTPRE AU NM_006504 exon5 c.6882-17G>A 0.786941 0.8264 0.776488 0.7855 0.8269 Uncertain 10_129848049_G->A 10 129848049 129848049 G A snp 146.77 0/1 99 13 8 5 0.38 intronic rs4750933 PTPRE AU NM_006504 exon6 c.8785+119G>A 0.329473 0.379 Uncertain 10_129854369_T->C 10 129854369 129854369 T C snp 3978.77 1/1 99 149 0 149 1.0 intronic rs4424589 PTPRE AU NM_006504 exon7 c.15241-17T>C 0.864217 0.8264 0.827464 0.8310 0.8307 Uncertain 10_129854550_G->A 10 129854550 129854550 G A snp 832.77 0/1 99 68 34 34 0.5 intronic rs11016041 PTPRE AU NM_006504 exon7 c.15332+73G>A 0.3125 0.4028 Uncertain 10_129859061_T->C 10 129859061 129859061 T C snp 1049.77 1/1 78 30 0 30 1.0 intronic rs28411949 PTPRE AU NM_006504 exon8 c.20057-141T>C 0.861422 0.8194 Uncertain 10_129859065_T->C 10 129859065 129859065 T C snp 1153.77 1/1 84 31 0 31 1.0 intronic rs11016046 PTPRE AU NM_006504 exon8 c.20057-137T>C 0.871006 0.8185 Uncertain 10_129859423_G->A 10 129859423 129859423 G A snp 74.77 0/1 99 7 3 4 0.57 intronic rs4431936 PTPRE AU NM_006504 exon8 c.20134+144G>A 0.824081 0.6677 Uncertain 10_129859992_T->C 10 129859992 129859992 T C snp 2707.77 1/1 99 99 0 99 1.0 intronic rs4462251 PTPRE AU NM_006504 exon9 c.20834+13T>C 0.535343 0.5704 0.495308 0.5688 0.6024 Uncertain 10_129860197_A->G 10 129860197 129860197 A G snp 191.77 0/1 99 9 3 6 0.67 intronic rs4462252 PTPRE AU NM_006504 exon9 c.20834+218A>G 0.59984 0.4196 Uncertain 10_129861325_C->T 10 129861325 129861325 C T snp 888.77 0/1 99 84 47 37 0.44 intronic rs3802692 PTPRE AU NM_006504 exon10 c.22201-21C>T 0.0315495 0.1518 0.000231 0.0114 0.1521 Uncertain 10_129864281_A->G 10 129864281 129864281 A G snp 781.77 0/1 99 44 15 29 0.66 intronic rs2298198 PTPRE AU NM_006504 exon11 c.25193-57A>G 0.0309505 0.1508 Uncertain 10_129864515_C->T 10 129864515 129864515 C T snp 1640.77 0/1 99 138 72 66 0.48 intronic rs10764743 PTPRE AU NM_006504 exon11 c.25313+57C>T 0.420128 0.4127 Uncertain 10_129869233_A->G 10 129869233 129869233 A G snp 367.77 0/1 99 23 11 12 0.52 intronic rs10829325 PTPRE AU NM_006504 exon15 c.30020+68A>G 0.307109 0.3849 0.4439 0.4686 Uncertain 10_129870510_A->G 10 129870510 129870510 A G snp 2215.77 0/1 99 213 112 101 0.47 intronic rs41282874 PTPRE AU NM_006504 exon16 c.31333+32A>G 0.130791 0.1538 0.136091 0.1028 0.1525 Uncertain 10_129870623_A->- 10 129870623 129870623 A - indel 237.73 0/1 99 39 19 20 0.51 intronic rs34882498 PTPRE AU NM_006504 exon16 c.31333+145delA 0.240615 0.4117 Uncertain 10_129874747_T->A 10 129874747 129874747 T A snp 77.77 0/1 30 4 1 3 0.75 intronic rs3750893 PTPRE AU NM_006504 exon18 c.35721-119T>A 0.283546 0.4157 Uncertain 10_129875185_T->C 10 129875185 129875185 T C snp 152.78 0/1 24 6 1 5 0.83 intronic rs35655466 PTPRE AU NM_006504 exon18 c.35847+193T>C 0.479233 0.4296 Uncertain 10_129883370_A->G 10 129883370 129883370 A G snp 2389.77 0/1 99 249 137 112 0.45 UTR3 rs1129205 PTPRE AU 0.546526 0.4802 0.5318 0.4925 0 D 0.0 P -0.962 T 0.0 T 0.0 T Uncertain 10_129903802_A->G 10 129903802 129903802 A G snp 1728.77 0/1 99 155 88 67 0.43 exonic rs11016073 MKI67 AU nonsynonymous SNV NM_002417 exon13 c.T6302C p.I2101T 0.152955 0.2262 0.162694 0.1954 0.1984 0.57 T 0.0 P -0.952 T 0.013 T 0.014 T Pathogenic 10_129904560_C->T 10 129904560 129904560 C T snp 4431.77 1/1 99 151 0 151 1.0 exonic rs2853346 MKI67 AU synonymous SNV NM_002417 exon13 c.G5544A p.T1848T 0.28754 0.3819 0.277564 0.2909 0.3455 Uncertain 10_129907741_G->A 10 129907741 129907741 G A snp 1287.77 1/1 93 38 0 38 1.0 intronic rs2065718 MKI67 AU NM_002417 exon3 c.10234+54G>A 0.722644 0.7391 Uncertain 10_129911743_T->C 10 129911743 129911743 T C snp 1864.77 0/1 99 141 63 78 0.55 exonic rs369177953 MKI67 AU nonsynonymous SNV NM_002417 exon8 c.A1604G p.K535R 0.000077 4.119e-05 0.0005 0.4 T 1 N -0.876 T 0.873 T 0.543 P Pathogenic 10_129917560_T->C 10 129917560 129917560 T C snp 2590.77 1/1 99 92 0 92 1.0 exonic rs2071498 MKI67 AU nonsynonymous SNV NM_002417 exon5 c.A311G p.N104S 0.633986 0.6389 0.615136 0.6476 0.6039 0.0 P -1.094 T 0.982 D 0.702 D Pathogenic 10_131265665_T->G 10 131265665 131265665 T G snp 1994.77 1/1 99 74 0 74 1.0 intronic rs16906255 MGMT AU NM_002412 exon1 c.81+105T>G 0.911941 0.9722 Uncertain 10_131334789_T->C 10 131334789 131334789 T C snp 504.77 1/1 39 14 0 14 1.0 intronic rs10734087 MGMT AU NM_002412 exon2 c.69162+148T>C 0.9998 1 Uncertain 10_131639306_-->CCCC 10 131639306 131639306 - CCCC indel 588.73 ./1 99 32 0 32 1.0 intronic rs71481016 EBF3 AU NM_001005463 exon3 c.3104+10insCCCC Uncertain 10_131639306_-->CCC 10 131639306 131639306 - CCC indel 588.73 ./1 99 32 0 32 1.0 intronic rs10674137 EBF3 AU NM_001005463 exon3 c.3104+10insCCC Uncertain 10_131641361_-->G 10 131641361 131641361 - G indel 1773.73 1/1 99 56 0 56 1.0 intronic rs35210769 EBF3 AU NM_001005463 exon5 c.5208-39insG 0.522364 0.5794 0.583626 0.6051 0.5798 Uncertain 10_131665885_G->A 10 131665885 131665885 G A snp 188.77 0/1 99 16 9 7 0.44 intronic rs12572694 EBF3 AU NM_001005463 exon8 c.29853-160G>A 0.174121 0.1806 Uncertain 10_131755671_G->A 10 131755671 131755671 G A snp 804.77 0/1 99 75 42 33 0.44 intronic rs10829666 EBF3 AU NM_001005463 exon11 c.119398+81G>A 0.198882 0.2788 Uncertain 10_131755748_G->A 10 131755748 131755748 G A snp 200.77 0/1 99 16 9 7 0.44 intronic rs10829667 EBF3 AU NM_001005463 exon11 c.119398+158G>A 0.202476 0.2788 Uncertain 10_131904787_T->C 10 131904787 131904787 T C snp 1366.77 0/1 99 101 46 55 0.54 ncRNA_exonic rs60998497 CTAGE7P AU 0.0101837 0.0476 0.0068 0.0442 Uncertain 10_131943719_T->G 10 131943719 131943719 T G snp 37.77 0/1 66 4 2 2 0.5 intronic rs7922450 GLRX3 AU NM_001199868 exon2 c.8899+136T>G 0.798922 0.6468 Uncertain 10_131958422_G->A 10 131958422 131958422 G A snp 226.77 0/1 99 26 14 12 0.46 intronic rs1013563 GLRX3 AU NM_001199868 exon3 c.23649+89G>A 0.183107 0.2282 Uncertain 10_132760953_G->C 10 132760953 132760953 G C snp 1090.77 0/1 99 66 26 40 0.61 upstream rs11017616 MIR378C AU 0.383387 0.377 0.3849 0.3939 Uncertain 10_132914995_C->T 10 132914995 132914995 C T snp 393.77 0/1 99 27 12 15 0.56 intronic rs112940327 TCERG1L AU NM_174937 exon4 c.23637-66C>T 0.0886581 0.2421 Uncertain 10_132915202_A->G 10 132915202 132915202 A G snp 1498.77 0/1 99 121 57 64 0.53 splicing rs2298193 TCERG1L AU NM_174937 exon4 c.23773+5A>G 0.269169 0.4157 0.217779 0.2848 0.4743 Pathogenic 10_132961575_A->G 10 132961575 132961575 A G snp 1129.77 1/1 81 41 0 41 1.0 intronic rs35645120 TCERG1L AU NM_174937 exon7 c.70049+102A>G 0.232827 0.4187 Uncertain 10_133607937_G->A 10 133607937 133607937 G A snp 71.77 0/1 99 8 4 4 0.5 ncRNA_exonic rs4897782 LINC01164 AU 0.544928 0.4782 0.4818 0.43 0 D 0.0 P -0.937 T Uncertain 10_133607947_T->G 10 133607947 133607947 T G snp 188.77 0/1 99 13 5 8 0.62 ncRNA_exonic rs4897740 LINC01164 AU 0.584465 0.4792 0.5324 0.4356 Uncertain 10_133608210_A->G 10 133608210 133608210 A G snp 1125.77 0/1 99 104 53 51 0.49 ncRNA_exonic rs4897741 LINC01164 AU 0.585264 0.4792 0.5294 0.4412 0 D 0.0 P -0.975 T Uncertain 10_133608237_G->A 10 133608237 133608237 G A snp 1234.77 0/1 99 98 51 47 0.48 ncRNA_exonic rs4897783 LINC01164 AU 0.50619 0.4772 0.4764 0.4455 0 D 0.0 P -0.943 T Uncertain 10_133608291_T->G 10 133608291 133608291 T G snp 1015.77 0/1 99 88 46 42 0.48 ncRNA_exonic rs4897742 LINC01164 AU 0.505591 0.4792 0.4770 0.445 0 D 0.0 P -0.951 T Uncertain 10_133608292_T->G 10 133608292 133608292 T G snp 1033.77 0/1 99 88 46 42 0.48 ncRNA_exonic rs4897743 LINC01164 AU 0.505391 0.4782 0.4768 0.445 0 D 0.0 P -0.939 T Uncertain 10_133608495_A->T 10 133608495 133608495 A T snp 137.77 0/1 99 18 10 8 0.44 ncRNA_exonic rs4897744 LINC01164 AU 0.510783 0.4782 Uncertain 10_133754334_G->A 10 133754334 133754334 G A snp 1301.77 1/1 96 39 0 39 1.0 intronic PPP2R2D AU NM_018461 exon3 c.6239+136G>A 0.314297 0.4484 Uncertain 10_133769102_C->T 10 133769102 133769102 C T snp 191.77 0/1 99 11 5 6 0.55 intronic PPP2R2D AU NM_018461 exon7 c.21228-85C>T 0.00938498 0.0466 Uncertain 10_133769482_G->C 10 133769482 133769482 G C snp 3237.77 1/1 99 116 2 114 0.98 UTR3 PPP2R2D AU 0.314696 0.4524 0.266004 0.3079 0.4727 Uncertain 10_133769568_G->A 10 133769568 133769568 G A snp 1136.77 1/1 84 37 0 37 1.0 UTR3 PPP2R2D AU 0.169329 0.3601 Uncertain 10_133787629_C->T 10 133787629 133787629 C T snp 182.9 1/1 15 6 0 6 1.0 intronic rs4880263 BNIP3 AU NM_004052 exon5 c.5420+182C>T 0.313099 0.4504 Uncertain 10_133918372_G->A 10 133918372 133918372 G A snp 763.77 0/1 99 84 48 36 0.43 exonic rs10870252 JAKMIP3 AU synonymous SNV NM_001105521 exon1 c.G60A p.A20A 0.234225 0.2907 0.225567 0.2690 0.4542 Uncertain 10_133918466_T->C 10 133918466 133918466 T C snp 489.77 0/1 99 89 65 24 0.27 intronic rs10870253 JAKMIP3 AU NM_001105521 exon1 c.135+19T>C 0.397165 0.4931 0.389174 0.4053 0.5262 Uncertain 10_133918567_A->G 10 133918567 133918567 A G snp 122.77 0/1 99 25 19 6 0.24 intronic rs12098286 JAKMIP3 AU NM_001105521 exon1 c.135+120A>G 0.235024 0.2917 Uncertain 10_133948634_T->C 10 133948634 133948634 T C snp 1110.77 1/1 81 36 0 36 1.0 exonic rs2814182 JAKMIP3 AU synonymous SNV NM_001105521 exon4 c.T939C p.N313N 0.860623 0.9891 0.774557 0.7590 0.9828 Uncertain 10_133950408_C->T 10 133950408 133950408 C T snp 114.77 0/1 99 8 4 4 0.5 intronic rs2818390 JAKMIP3 AU NM_001105521 exon6 c.32210-114C>T 0.649561 0.6706 Uncertain 10_133950642_T->C 10 133950642 133950642 T C snp 1674.77 0/1 99 172 97 75 0.44 exonic rs75996870 JAKMIP3 AU synonymous SNV NM_001105521 exon6 c.T1236C p.D412D 0.0802716 0.3016 0.025722 0.0578 0.3344 Uncertain 10_133951486_G->A 10 133951486 133951486 G A snp 553.77 0/1 99 23 4 19 0.83 intronic rs12414486 JAKMIP3 AU NM_001105521 exon8 c.33310-136G>A 0.200879 0.3185 Uncertain 10_133951502_A->- 10 133951502 133951502 A - indel 1519.73 1/1 99 37 0 37 1.0 intronic rs398015121 JAKMIP3 AU NM_001105521 exon8 c.33310-120delA 0.861222 0.9891 Uncertain 10_133951718_G->A 10 133951718 133951718 G A snp 923.77 0/1 99 52 20 32 0.62 intronic rs2637646 JAKMIP3 AU NM_001105521 exon8 c.33370+36G>A 0.270168 0.3204 0.165512 0.2161 0.3422 Uncertain 10_133954011_C->T 10 133954011 133954011 C T snp 898.77 0/1 99 104 63 41 0.39 exonic rs2818387 JAKMIP3 AU synonymous SNV NM_001105521 exon9 c.C1401T p.D467D 0.513978 0.5883 0.478250 0.5044 0.5543 Uncertain 10_133955569_-->CG 10 133955569 133955569 - CG indel 1854.73 0/1 99 98 38 60 0.61 intronic rs574740547 JAKMIP3 AU NM_001105521 exon10 c.37240+17insCG 0.781949 0.6796 0.8812 0.7203 Uncertain 10_133958541_C->T 10 133958541 133958541 C T snp 3029.77 1/1 99 118 0 118 1.0 intronic rs2637627 JAKMIP3 AU NM_001105521 exon11 c.40298-69C>T 0.764577 0.7867 Uncertain 10_133961571_C->A 10 133961571 133961571 C A snp 588.77 0/1 99 47 24 23 0.49 intronic rs183845236 JAKMIP3 AU NM_001105521 exon13 c.43242+17C>A 0.00179712 0.0079 0.0010 0.0126 Uncertain 10_133961626_A->G 10 133961626 133961626 A G snp 392.77 0/1 99 21 6 15 0.71 intronic rs9419379 JAKMIP3 AU NM_001105521 exon13 c.43242+72A>G 0.153554 0.5198 Uncertain 10_133963043_C->- 10 133963043 133963043 C - indel 410.73 0/1 99 40 16 24 0.6 intronic rs112941338 JAKMIP3 AU NM_001105521 exon14 c.44702+29delC 0.683307 0.8512 0.674366 0.6844 0.8519 Uncertain 10_133963466_A->G 10 133963466 133963466 A G snp 638.77 0/1 99 79 45 34 0.43 intronic rs9419380 JAKMIP3 AU NM_001105521 exon15 c.45173-19A>G 0.761182 0.9375 0.716087 0.7576 0.9445 Uncertain 10_133966434_C->T 10 133966434 133966434 C T snp 1230.77 0/1 99 130 70 60 0.46 intronic rs11146215 JAKMIP3 AU NM_001105521 exon16 c.48149-27C>T 0.150759 0.4851 0.041782 0.1135 0.5462 Uncertain 10_133967593_C->T 10 133967593 133967593 C T snp 526.77 0/1 99 30 12 18 0.6 intronic rs7906747 JAKMIP3 AU NM_001105521 exon18 c.49182+99C>T 0.488419 0.378 Uncertain 10_133976706_G->T 10 133976706 133976706 G T snp 586.77 0/1 99 51 25 26 0.51 intronic rs12776458 JAKMIP3 AU NM_001105521 exon19 c.58400-6G>T 0.330671 0.3234 0.403834 0.4526 0.3849 Uncertain 10_133980234_T->C 10 133980234 133980234 T C snp 93.28 1/1 9 3 0 3 1.0 intronic rs2814171 JAKMIP3 AU NM_001105521 exon21 c.62174-252T>C 0.826877 0.9603 Uncertain 10_133981361_-->CTCTCGG 10 133981361 133981361 - CTCTCGG indel 756.73 0/1 99 27 17 10 0.37 intronic JAKMIP3 AU NM_001105521 exon22 c.63144-95insCTCTCGG Uncertain 10_133981368_G->C 10 133981368 133981368 G C snp 420.77 0/1 99 38 19 19 0.5 intronic rs45456394 JAKMIP3 AU NM_001105521 exon22 c.63144-88G>C Uncertain 10_133981398_C->G 10 133981398 133981398 C G snp 819.77 0/1 99 73 43 30 0.41 intronic rs76333635 JAKMIP3 AU NM_001105521 exon22 c.63144-58C>G 0.105232 0.0397 Uncertain 10_133981682_G->A 10 133981682 133981682 G A snp 4766.77 1/1 99 166 0 166 1.0 UTR3 rs4880338 JAKMIP3 AU 0.624201 0.9365 0.5884 0.92 Uncertain 10_134000502_CCCGCCCGCCCG->- 10 134000502 134000513 CCCGCCCGCCCG - indel 1019.75 1/1 24 8 0 8 1.0 UTR5 DPYSL4 AU Uncertain 10_134008140_C->G 10 134008140 134008140 C G snp 180.9 1/1 15 5 0 5 1.0 intronic rs2814159 DPYSL4 AU NM_006426 exon4 c.7781-208C>G 0.849441 0.9613 Uncertain 10_134008571_C->T 10 134008571 134008571 C T snp 482.77 0/1 99 28 13 15 0.54 intronic rs112825992 DPYSL4 AU NM_006426 exon4 c.7946+58C>T 0.10603 0.0308 Uncertain 10_134010224_C->G 10 134010224 134010224 C G snp 1012.77 1/1 75 26 0 26 1.0 intronic rs1552681 DPYSL4 AU NM_006426 exon5 c.9797-140C>G 0.957268 1 Uncertain 10_134012500_TGCCGAGG->- 10 134012500 134012507 TGCCGAGG - indel 3438.73 0/1 99 90 41 49 0.54 intronic rs537967334 DPYSL4 AU NM_006426 exon8 c.11908+25_11908+32delTGCCGAGG 0.057977 Uncertain 10_134012508_G->C 10 134012508 134012508 G C snp 883.77 0/1 99 74 37 37 0.5 intronic DPYSL4 AU NM_006426 exon8 c.11908+33G>C Uncertain 10_134013856_G->T 10 134013856 134013856 G T snp 2777.77 0/1 99 202 88 114 0.56 splicing rs871883 DPYSL4 AU NM_006426 exon9 c.13292-3G>T 0.396166 0.6845 0.377595 0.4891 0.6995 Pathogenic 10_134013990_G->A 10 134013990 134013990 G A snp 6768.77 1/1 99 239 0 239 1.0 exonic rs2247705 DPYSL4 AU synonymous SNV NM_006426 exon9 c.G942A p.A314A 0.854633 0.9286 0.819622 0.8508 0.9396 Uncertain 10_134014653_T->C 10 134014653 134014653 T C snp 378.77 1/1 30 11 0 11 1.0 intronic rs11592988 DPYSL4 AU NM_006426 exon10 c.13920+166T>C 0.422324 0.3681 Uncertain 10_134015420_C->T 10 134015420 134015420 C T snp 298.77 0/1 99 36 20 16 0.44 intronic rs137972259 DPYSL4 AU NM_006426 exon11 c.14882-29C>T 0.00359425 0.0179 0.0010 0.0135 Uncertain 10_134016115_G->A 10 134016115 134016115 G A snp 586.77 1/1 45 18 0 18 1.0 intronic rs2637629 DPYSL4 AU NM_006426 exon12 c.15582-34G>A 0.757188 0.9583 0.672358 0.7013 0.9621 Uncertain 10_134016396_G->A 10 134016396 134016396 G A snp 1316.77 0/1 99 109 54 55 0.5 intronic rs3736258 DPYSL4 AU NM_006426 exon12 c.15762+67G>A 0.323682 0.3393 Uncertain 10_134017295_A->G 10 134017295 134017295 A G snp 2886.77 1/1 99 98 0 98 1.0 exonic rs12313 DPYSL4 AU synonymous SNV NM_006426 exon13 c.A1491G p.G497G 0.841653 0.9583 0.790923 0.8348 0.9640 Uncertain 10_134018483_G->A 10 134018483 134018483 G A snp 532.77 0/1 99 65 42 23 0.35 UTR3 rs114235518 DPYSL4 AU 0.137979 0.0298 0.123615 0.1560 0.0289 Uncertain 10_134018521_C->T 10 134018521 134018521 C T snp 77.77 0/1 99 18 14 4 0.22 UTR3 rs115200472 DPYSL4 AU 0.057508 0.0288 Uncertain 10_134021485_C->T 10 134021485 134021485 C T snp 70.77 0/1 99 11 7 4 0.36 UTR3 rs3814608 STK32C AU 0.0539137 0.0288 0.011083 0.0313 0.0332 Uncertain 10_134021740_G->A 10 134021740 134021740 G A snp 866.77 1/1 63 30 0 30 1.0 intronic rs923659 STK32C AU NM_173575 exon1 c.142+85G>A 0.957069 1 Uncertain 10_134021810_T->C 10 134021810 134021810 T C snp 267.8 1/1 21 7 0 7 1.0 intronic rs923660 STK32C AU NM_173575 exon1 c.142+155T>C 0.848442 0.9583 Uncertain 10_134036053_G->A 10 134036053 134036053 G A snp 644.77 1/1 48 19 0 19 1.0 intronic rs2814197 STK32C AU NM_173575 exon3 c.14631-91G>A 0.766174 0.8413 Uncertain 10_134036057_C->T 10 134036057 134036057 C T snp 661.77 1/1 51 21 0 21 1.0 intronic rs2637635 STK32C AU NM_173575 exon3 c.14631-87C>T 0.766374 0.8413 Uncertain 10_134036073_G->A 10 134036073 134036073 G A snp 747.77 1/1 54 27 0 27 1.0 intronic rs2814196 STK32C AU NM_173575 exon3 c.14631-71G>A 0.765176 0.8413 Uncertain 10_134036193_A->G 10 134036193 134036193 A G snp 3233.06 1/1 99 117 0 117 1.0 exonic rs2818401 STK32C AU synonymous SNV NM_173575 exon10 c.T1203C p.R401R 0.766174 0.8442 0.752231 0.7926 0.8564 Uncertain 10_134036596_G->C 10 134036596 134036596 G C snp 56.74 1/1 6 2 0 2 1.0 intronic rs1994688 STK32C AU NM_173575 exon4 c.14977+106G>C 0.746006 0.7431 Uncertain 10_134038647_A->G 10 134038647 134038647 A G snp 596.77 1/1 45 17 0 17 1.0 intronic rs902628 STK32C AU NM_173575 exon6 c.17223-89A>G 0.873802 0.8879 Uncertain 10_134038715_A->G 10 134038715 134038715 A G snp 2429.77 1/1 99 74 0 74 1.0 intronic rs902629 STK32C AU NM_173575 exon6 c.17223-21A>G 0.901957 0.9643 0.867926 0.8662 0.9551 Uncertain 10_134059366_C->T 10 134059366 134059366 C T snp 986.77 0/1 99 73 30 43 0.59 intronic rs3829920 STK32C AU NM_173575 exon11 c.37890-37C>T 0.153554 0.253 0.143011 0.1655 0.2416 Uncertain 10_134059616_G->A 10 134059616 134059616 G A snp 462.77 0/1 99 22 8 14 0.64 intronic rs3814609 STK32C AU NM_173575 exon11 c.37946+157G>A 0.293131 0.5079 Uncertain 10_134062574_G->A 10 134062574 134062574 G A snp 1324.77 0/1 99 100 42 58 0.58 intronic rs4880361 STK32C AU NM_173575 exon11 c.37946+3115G>A 0.314497 0.504 0.229850 0.4626 0.6533 Uncertain 10_134145314_A->G 10 134145314 134145314 A G snp 1543.77 1/1 99 61 0 61 1.0 upstream rs11146335 LRRC27 AU 0.505391 0.4861 0.416463 0.4336 0.4635 0 D 0.000 P -0.941 T Uncertain 10_134161633_A->G 10 134161633 134161633 A G snp 3364.77 1/1 99 123 0 123 1.0 exonic rs2474328 LRRC27 AU synonymous SNV NM_001143757 exon6 c.A699G p.P233P 0.845847 0.8651 0.816469 0.7856 0.8575 0.000 P -1.069 T Likely benign 10_134165291_C->G 10 134165291 134165291 C G snp 1941.77 1/1 99 60 0 60 1.0 intronic rs2261222 LRRC27 AU NM_001143759 exon8 c.18229+34C>G 0.800919 0.8661 0.769373 0.7737 0.8593 Uncertain 10_134166188_A->G 10 134166188 134166188 A G snp 214.84 1/1 18 6 0 6 1.0 intronic rs74161790 LRRC27 AU NM_001143758 exon8 c.19357-197A>G 0.849241 0.8651 Uncertain 10_134174781_G->A 10 134174781 134174781 G A snp 423.77 0/1 99 20 6 14 0.7 intronic rs76200325 LRRC27 AU NM_001143757 exon9 c.27932-179G>A 0.105831 0.0119 Uncertain 10_134180248_C->T 10 134180248 134180248 C T snp 351.77 0/1 99 27 15 12 0.44 intronic rs10870299 LRRC27 AU NM_001143757 exon10 c.32026+1194C>T 0.246605 0.1409 Uncertain 10_134218269_C->T 10 134218269 134218269 C T snp 851.77 0/1 99 75 37 38 0.51 exonic rs11146363 PWWP2B AU nonsynonymous SNV NM_001098637 exon2 c.C265T p.R89C 0.51897 0.625 0.578013 0.5751 0.6345 0.09 T 0.0 P -0.977 T 0.0 T 0.0 T Pathogenic 10_134218296_C->G 10 134218296 134218296 C G snp 693.77 0/1 99 49 20 29 0.59 exonic rs10747057 PWWP2B AU nonsynonymous SNV NM_001098637 exon2 c.C292G p.R98G 0.592452 0.6954 0.575802 0.5510 0.7383 0.38 T 0.0 P -0.936 T 0.0 T 0.0 T Pathogenic 10_134219036_G->A 10 134219036 134219036 G A snp 3160.77 0/1 99 249 125 124 0.5 exonic rs11817589 PWWP2B AU synonymous SNV NM_001098637 exon2 c.G1032A p.E344E 0.103035 0.0813 0.071508 0.0828 0.0716 Uncertain 10_134219045_C->T 10 134219045 134219045 C T snp 3172.77 0/1 99 250 128 122 0.49 exonic rs11146364 PWWP2B AU synonymous SNV NM_001098637 exon2 c.C1041T p.P347P 0.163738 0.1429 0.106231 0.1233 0.1272 Uncertain 10_134237240_T->C 10 134237240 134237240 T C snp 164.77 0/1 99 22 14 8 0.36 intergenic rs1881746 PWWP2B AU Uncertain 10_134237249_-->TGTG 10 134237249 134237249 - TGTG indel 529.73 0/1 99 25 15 10 0.4 intergenic rs150298334 PWWP2B AU Uncertain 10_134237276_T->G 10 134237276 134237276 T G snp 561.77 0/1 99 53 26 27 0.51 intergenic rs1574449 PWWP2B AU 0.227236 0.1329 Uncertain 10_134237425_A->G 10 134237425 134237425 A G snp 773.77 0/1 99 76 43 33 0.43 intergenic rs1574448 PWWP2B AU 0.453874 0.1627 Uncertain 10_134239228_T->C 10 134239228 134239228 T C snp 1368.77 0/1 99 94 38 56 0.6 intergenic rs12775406 PWWP2B AU 0.450679 0.1687 Uncertain 10_134243648_T->C 10 134243648 134243648 T C snp 54.74 1/1 6 3 1 2 0.67 intergenic rs36075189 PWWP2B AU 0.364018 0.1468 Uncertain 10_134459388_A->G 10 134459388 134459388 A G snp 711.77 0/1 99 73 43 30 0.41 exonic rs1133400 INPP5A AU nonsynonymous SNV NM_005539 exon3 c.A134G p.K45R 0.21226 0.3016 0.170690 0.2190 0.3538 0.49 T 0.983 P -0.939 T 0.002 T 0.002 T Pathogenic 10_134598628_A->G 10 134598628 134598628 A G snp 3717.77 1/1 99 121 0 121 1.0 exonic rs2804003 NKX6-2 AU nonsynonymous SNV NM_177400 exon3 c.T626C p.V209A 0.97524 1 0.955855 0.9581 0.9999 1 T 0.001 P -0.936 T 0.0 T 0.0 T Pathogenic 10_134622408_T->C 10 134622408 134622408 T C snp 2449.77 1/1 99 90 0 90 1.0 exonic rs2767434 CFAP46 AU synonymous SNV NM_001200049 exon58 c.A7665G p.R2555R 0.742612 0.7272 0.753116 0.6775 0.7270 0.17 T 0.000 P -1.042 T Likely benign 10_134622507_A->G 10 134622507 134622507 A G snp 552.77 1/1 42 15 0 15 1.0 intronic rs2767431 CFAP46 AU NM_001200049 exon1 c.484+99A>G 0.743211 0.7321 Uncertain 10_134623959_T->C 10 134623959 134623959 T C snp 5351.77 1/1 99 194 0 194 1.0 exonic rs2254419 CFAP46 AU nonsynonymous SNV NM_001200049 exon57 c.A7618G p.S2540G 0.756989 0.7381 0.773566 0.6949 0.7374 0.24 T 0.0 P -0.971 T 0.0 T 0.0 T Pathogenic 10_134624504_C->T 10 134624504 134624504 C T snp 4084.77 1/1 99 146 0 146 1.0 exonic rs2274429 CFAP46 AU synonymous SNV NM_001200049 exon56 c.G7533A p.A2511A 0.33107 0.6181 0.270804 0.4023 0.6248 Uncertain 10_134626453_C->T 10 134626453 134626453 C T snp 2640.77 1/1 99 84 0 84 1.0 intronic rs3750586 CFAP46 AU NM_001200049 exon4 c.4477+52C>T 0.524561 0.6359 0.485561 0.4779 0.6246 Uncertain 10_134627593_G->A 10 134627593 134627593 G A snp 885.77 1/1 66 32 0 32 1.0 intronic rs11146529 CFAP46 AU NM_001200049 exon5 c.5731-62G>A 0.724441 0.7133 Uncertain 10_134627882_G->T 10 134627882 134627882 G T snp 686.77 1/1 51 19 0 19 1.0 intronic rs7070307 CFAP46 AU NM_001200049 exon5 c.5834+124G>T 0.733826 0.7232 Uncertain 10_134726109_CT->- 10 134726109 134726110 CT - indel 586.73 0/1 99 78 52 26 0.33 intronic CFAP46 AU NM_001200049 exon40 c.104234-49_104234-48delCT Uncertain 10_134750604_C->A 10 134750604 134750604 C A snp 1562.77 1/1 99 48 0 48 1.0 intronic rs10870211 CFAP46 AU NM_001200049 exon52 c.128635+45C>A 0.992612 1 0.984024 0.9846 1 Uncertain 10_134755298_C->G 10 134755298 134755298 C G snp 1712.77 1/1 99 54 0 54 1.0 intronic rs4880292 CFAP46 AU NM_001200049 exon56 c.133302+72C>G 0.95627 0.9901 Uncertain 10_134884516_G->A 10 134884516 134884516 G A snp 1201.77 0/1 99 106 59 47 0.44 intergenic rs4271312 LINC01168 AU 0.623203 0.6567 0.577499 0.5834 0.6773 Uncertain 10_134884546_A->G 10 134884546 134884546 A G snp 833.77 0/1 99 94 55 39 0.41 intergenic rs4576736 LINC01168 AU 0.623802 0.6558 0.578347 0.5824 0.6749 Uncertain 10_134884595_G->A 10 134884595 134884595 G A snp 843.77 0/1 99 93 58 35 0.38 intergenic rs4271313 LINC01168 AU 0.622404 0.6577 0.577657 0.5927 0.6847 0 D -0.959 T 0.023 T 0.003 T Uncertain 10_134884610_C->G 10 134884610 134884610 C G snp 794.77 0/1 99 95 60 35 0.37 intergenic rs4486541 LINC01168 AU 0.622404 0.6577 0.575740 0.6019 0.6927 0 D -0.873 T 0.0 T 0.0 T Uncertain 10_134884755_C->G 10 134884755 134884755 C G snp 252.77 0/1 99 30 19 11 0.37 intergenic rs11101751 LINC01168 AU 0.516773 0.5724 Uncertain 10_134885677_A->C 10 134885677 134885677 A C snp 330.77 0/1 99 23 12 11 0.48 intergenic rs7069085 LINC01168 AU 0.715256 0.6558 Uncertain 10_134886618_G->C 10 134886618 134886618 G C snp 2342.77 0/1 99 183 84 99 0.54 intergenic rs4838684 LINC01168 AU 0.619409 0.6538 0.532116 0.5495 0.7098 0 D 1.000 P -0.893 T 0.0 T 0.0 T Uncertain 10_134898594_A->G 10 134898594 134898594 A G snp 978.77 1/1 72 30 0 30 1.0 downstream rs4838694 ADGRA1-AS1 AU 0.763978 0.7242 Uncertain 10_134902314_A->G 10 134902314 134902314 A G snp 1144.77 1/1 84 35 0 35 1.0 UTR5 rs10745302 ADGRA1 AU 0.705871 0.7222 Uncertain 10_134902396_C->G 10 134902396 134902396 C G snp 4049.77 1/1 99 148 0 148 1.0 UTR5 rs10776692 ADGRA1 AU 0.618211 0.6994 0.557922 0.6300 0.7678 0 D 0.043 P -0.968 T 0.0 T 0.0 T Uncertain 10_134902398_C->T 10 134902398 134902398 C T snp 4073.77 1/1 99 150 0 150 1.0 UTR5 rs10776693 ADGRA1 AU 0.742812 0.6994 0.733741 0.7315 0.7738 Uncertain 10_134906343_-->GGAGGGAAGGAAGGAA 10 134906343 134906343 - GGAGGGAAGGAAGGAA indel 1880.73 1/1 33 11 0 11 1.0 intronic ADGRA1 AU NM_001083909 exon2 c.3+3927insGGAGGGAAGGAAGGAA Uncertain 10_134910629_G->A 10 134910629 134910629 G A snp 3126.77 1/1 99 105 0 105 1.0 intronic rs11101914 ADGRA1 AU NM_001083909 exon3 c.8192+24G>A 0.381589 0.5893 0.245656 0.3216 0.6062 Uncertain 10_134915993_G->C 10 134915993 134915993 G C snp 1615.77 1/1 99 49 0 49 1.0 intronic rs7905581 ADGRA1 AU NM_001083909 exon5 c.13787-207G>C 0.657748 0.6349 Uncertain 10_134916121_T->A 10 134916121 134916121 T A snp 1308.77 1/1 96 40 0 40 1.0 intronic rs7918862 ADGRA1 AU NM_001083909 exon5 c.13787-79T>A 0.624401 0.63 Uncertain 10_134916366_G->A 10 134916366 134916366 G A snp 2261.77 1/1 99 71 0 71 1.0 intronic rs12219529 ADGRA1 AU NM_001083909 exon5 c.13933+20G>A 0.300319 0.4911 0.181224 0.2325 0.5103 Uncertain 10_134940862_A->G 10 134940862 134940862 A G snp 1145.77 0/1 99 129 70 59 0.46 intronic rs11101942 ADGRA1 AU NM_001083909 exon6 c.38422+27A>G 0.268371 0.4464 0.159560 0.2414 0.5085 Uncertain 10_134942166_A->G 10 134942166 134942166 A G snp 5009.77 1/1 99 184 0 184 1.0 exonic rs2806452 ADGRA1 AU synonymous SNV NM_001291085 exon4 c.A543G p.S181S 0.489217 0.5357 0.410422 0.4690 0.5810 Uncertain 10_134942340_C->T 10 134942340 134942340 C T snp 1859.77 0/1 99 176 94 82 0.47 exonic rs10776696 ADGRA1 AU synonymous SNV NM_001291085 exon4 c.C717T p.A239A 0.280551 0.4573 0.155482 0.2544 0.5092 Uncertain 10_134942523_G->A 10 134942523 134942523 G A snp 1739.77 0/1 99 144 69 75 0.52 exonic rs201704614 ADGRA1 AU synonymous SNV NM_001291085 exon4 c.G900A p.A300A 0.00139776 0.0069 0.0005 0.0063 Uncertain 10_134942832_G->A 10 134942832 134942832 G A snp 2087.77 0/1 99 126 49 77 0.61 exonic rs45586231 ADGRA1 AU synonymous SNV NM_001291085 exon4 c.G1209A p.P403P 0.254593 0.4454 0.119313 0.2748 0.5841 Uncertain 10_134943085_G->A 10 134943085 134943085 G A snp 1436.77 0/1 99 104 48 56 0.54 UTR3 rs73399158 ADGRA1 AU 0.278754 0.4593 Uncertain 10_134973995_G->A 10 134973995 134973995 G A snp 919.77 0/1 99 75 35 40 0.53 exonic rs71503783 KNDC1 AU synonymous SNV NM_152643 exon1 c.G24A p.A8A 0.250599 0.0883 0.283048 0.3807 0.2029 Uncertain 10_134974187_A->T 10 134974187 134974187 A T snp 381.77 1/1 30 10 0 10 1.0 intronic rs56406605 KNDC1 AU NM_152643 exon1 c.102+114A>T 0.642173 0.5417 Uncertain 10_134981690_T->C 10 134981690 134981690 T C snp 5155.77 1/1 99 181 0 181 1.0 intronic rs2998152 KNDC1 AU NM_152643 exon3 c.7786-67T>C 0.66853 0.5456 0.652650 Uncertain 10_134981837_T->C 10 134981837 134981837 T C snp 7029.77 1/1 99 245 0 245 1.0 intronic rs2998151 KNDC1 AU NM_152643 exon3 c.7845+21T>C 0.667332 0.5456 0.658850 0.6631 0.5871 Uncertain 10_134981942_C->T 10 134981942 134981942 C T snp 2807.77 1/1 99 96 0 96 1.0 intronic rs3008303 KNDC1 AU NM_152643 exon3 c.7845+126C>T 0.520966 0.5397 Uncertain 10_135012162_T->C 10 135012162 135012162 T C snp 742.77 0/1 99 62 35 27 0.44 exonic rs2998139 KNDC1 AU nonsynonymous SNV NM_152643 exon14 c.T2150C p.L717P 0.557907 0.6121 0.559684 0.6023 0.6541 0.27 T 0.0 P -0.964 T 0.0 T 0.0 T Pathogenic 10_135012429_T->A 10 135012429 135012429 T A snp 357.77 0/1 99 58 39 19 0.33 exonic rs3008390 KNDC1 AU nonsynonymous SNV NM_152643 exon14 c.T2417A p.V806D 0.40016 0.5476 0.313913 0.4832 0.5773 0.63 T 0.0 P -0.925 T 0.867 T 0.352 P Pathogenic 10_135012430_T->C 10 135012430 135012430 T C snp 387.77 0/1 99 58 39 19 0.33 exonic rs3008389 KNDC1 AU synonymous SNV NM_152643 exon14 c.T2418C p.V806V 0.545128 0.5486 0.583623 0.5844 0.5790 Uncertain 10_135012598_T->C 10 135012598 135012598 T C snp 2243.77 0/1 99 171 77 94 0.55 exonic rs192932685 KNDC1 AU synonymous SNV NM_152643 exon14 c.T2586C p.S862S 0.00479233 0.0218 0.000078 0.0021 0.0259 Uncertain 10_135012652_T->C 10 135012652 135012652 T C snp 2574.77 0/1 99 186 73 113 0.61 exonic rs3008388 KNDC1 AU synonymous SNV NM_152643 exon14 c.T2640C p.D880D 0.411342 0.6091 0.4265 0.5345 Uncertain 10_135013208_C->G 10 135013208 135013208 C G snp 46.77 0/1 31 3 1 2 0.67 intronic rs2998138 KNDC1 AU NM_152643 exon15 c.39135+102C>G 0.562899 0.6161 Uncertain 10_135014078_G->A 10 135014078 135014078 G A snp 202.77 0/1 99 12 5 7 0.58 intronic rs2998137 KNDC1 AU NM_152643 exon16 c.39993+114G>A 0.409545 0.6151 Uncertain 10_135015427_C->A 10 135015427 135015427 C A snp 1333.77 0/1 99 132 77 55 0.42 intronic rs9418941 KNDC1 AU NM_152643 exon17 c.41431+25C>A 0.563299 0.6181 0.620837 0.6836 0.6757 Uncertain 10_135015667_C->T 10 135015667 135015667 C T snp 2940.77 0/1 99 250 130 120 0.48 intronic rs9419023 KNDC1 AU NM_152643 exon17 c.41431+265C>T 0.430911 0.6141 0.5350 0.655 Uncertain 10_135016089_T->C 10 135016089 135016089 T C snp 1344.77 0/1 99 124 68 56 0.45 intronic rs3008386 KNDC1 AU NM_152643 exon17 c.41431+687T>C 0.5623 0.6151 0.6210 0.6515 Uncertain 10_135016175_T->G 10 135016175 135016175 T G snp 1380.77 0/1 99 140 77 63 0.45 intronic rs3008385 KNDC1 AU NM_152643 exon17 c.41431+773T>G 0.561901 0.6141 0.6194 0.6485 Uncertain 10_135020315_T->C 10 135020315 135020315 T C snp 1457.77 0/1 99 118 54 64 0.54 intronic rs3008375 KNDC1 AU NM_152643 exon18 c.46311+33T>C 0.762979 0.7282 0.831770 0.8290 0.7486 Uncertain 10_135024388_A->G 10 135024388 135024388 A G snp 132.77 0/1 99 14 9 5 0.36 intronic rs2998127 KNDC1 AU NM_152643 exon21 c.50257+160A>G 0.850639 0.7292 Uncertain 10_135032376_A->G 10 135032376 135032376 A G snp 3508.77 0/1 99 250 108 142 0.57 exonic rs3008370 KNDC1 AU synonymous SNV NM_152643 exon27 c.A4719G p.K1573K 0.104832 0.1171 0.087037 0.1157 0.0981 Uncertain 10_135044009_G->A 10 135044009 135044009 G A snp 436.77 0/1 99 41 22 19 0.46 exonic rs11599284 UTF1 AU nonsynonymous SNV NM_003577 exon1 c.G217A p.G73R 0.0974441 0.0952 0.2006 0.1333 0.02 T 0.009 P -1.066 T 0.534 P 0.312 P ID=CM103990;DIS=Altered function;TAG=FP;PUB=20218897 FP Pathogenic 10_135051543_T->C 10 135051543 135051543 T C snp 347.77 0/1 99 19 5 14 0.74 exonic rs2240892 VENTX AU nonsynonymous SNV NM_014468 exon1 c.T125C p.L42P 0.24381 0.376 0.121682 0.2030 0.3575 0.23 T 0.0 P -0.992 T 0.0 T 0.0 T Pathogenic 10_135051562_A->G 10 135051562 135051562 A G snp 813.77 1/1 60 29 0 29 1.0 exonic rs2998143 VENTX AU synonymous SNV NM_014468 exon1 c.A144G p.P48P 0.796925 0.994 0.660221 0.7178 0.9934 Uncertain 10_135051642_C->T 10 135051642 135051642 C T snp 439.77 0/1 99 54 32 22 0.41 exonic rs778757686 VENTX AU nonsynonymous SNV NM_014468 exon1 c.C224T p.P75L 1.239e-05 0 0.16 T 1 N -0.629 T 0.021 T 0.005 T Pathogenic 10_135053413_T->C 10 135053413 135053413 T C snp 815.77 0/1 99 57 20 37 0.65 intronic rs9418951 VENTX AU NM_014468 exon3 c.2017-22T>C 0.102636 0.0823 0.082654 0.0836 0.0663 Uncertain 10_135053604_G->A 10 135053604 135053604 G A snp 458.77 0/1 99 27 9 18 0.67 exonic rs9418952 VENTX AU nonsynonymous SNV NM_014468 exon3 c.G571A p.G191R 0.101837 0.0823 0.082846 0.0834 0.0664 0.35 T 0.0 P -0.999 T 0.004 T 0.001 T Pathogenic 10_135053710_C->A 10 135053710 135053710 C A snp 857.77 0/1 99 72 31 41 0.57 exonic rs74164127 VENTX AU nonsynonymous SNV NM_014468 exon3 c.C677A p.A226E 0.102636 0.0823 0.077996 0.0844 0.0651 0.27 T 0.0 P -0.832 T 0.784 T 0.265 P Pathogenic 10_135053721_C->A 10 135053721 135053721 C A snp 784.77 0/1 99 68 30 38 0.56 exonic rs9419033 VENTX AU nonsynonymous SNV NM_014468 exon3 c.C688A p.P230T 0.102236 0.0823 0.074605 0.0842 0.0642 0 D 0.0 P -0.747 T 0.981 D 0.431 D Pathogenic 10_135053773_G->A 10 135053773 135053773 G A snp 567.77 0/1 99 52 25 27 0.52 exonic rs9418953 VENTX AU nonsynonymous SNV NM_014468 exon3 c.G740A p.G247D 0.102636 0.0833 0.071254 0.0846 0.0659 0.52 T 0.0 P -0.954 T 0.195 T 0.063 T Pathogenic 10_135061108_C->T 10 135061108 135061108 C T snp 895.77 0/1 99 66 29 37 0.56 ncRNA_exonic rs532590089 MIR202 AU 0.000199681 0.0003 0 Uncertain 10_135061112_C->T 10 135061112 135061112 C T snp 909.77 0/1 99 65 28 37 0.57 ncRNA_exonic rs12355840 MIR202 AU 0.669129 0.9097 0.732744 0.7654 0.9026 Uncertain 10_135076523_C->A 10 135076523 135076523 C A snp 1217.77 1/1 90 38 0 38 1.0 UTR3 rs2995300 ADAM8 AU 0.828874 0.9167 0.831155 0.8702 0.9366 Uncertain 10_135076596_T->C 10 135076596 135076596 T C snp 2395.77 1/1 99 94 0 94 1.0 UTR3 rs2230576 ADAM8 AU 0.737021 0.9137 0.725819 0.8298 0.9368 Uncertain 10_135076758_T->C 10 135076758 135076758 T C snp 1528.77 1/1 99 58 0 58 1.0 intronic rs3008318 ADAM8 AU NM_001164490 exon1 c.78+21T>C 0.895168 0.9286 0.894818 0.8945 0.9529 Uncertain 10_135076903_A->G 10 135076903 135076903 A G snp 220.84 1/1 18 6 0 6 1.0 intronic rs3121298 ADAM8 AU NM_001164490 exon1 c.78+166A>G 0.901358 0.9286 Uncertain 10_135077311_C->G 10 135077311 135077311 C G snp 2985.77 1/1 99 122 0 122 1.0 intronic rs2995301 ADAM8 AU NM_001164489 exon2 c.77+42C>G 0.891773 0.9286 0.896131 0.8995 0.9469 Uncertain 10_135081684_T->C 10 135081684 135081684 T C snp 890.77 1/1 63 37 0 37 1.0 intronic rs2995309 ADAM8 AU NM_001164490 exon3 c.4963+62T>C 1 1 Uncertain 10_135081754_G->C 10 135081754 135081754 G C snp 340.78 1/1 27 13 0 13 1.0 intronic rs11101672 ADAM8 AU NM_001164490 exon3 c.4963+132G>C 0.729633 0.9196 Uncertain 10_135082346_A->G 10 135082346 135082346 A G snp 4976.77 1/1 99 193 0 193 1.0 exonic rs2275720 ADAM8 AU nonsynonymous SNV NM_001164490 exon17 c.T1774C p.F592L 0.824281 0.9286 0.801000 0.8605 0.9544 Pathogenic 10_135082810_C->T 10 135082810 135082810 C T snp 1368.77 1/1 99 46 0 46 1.0 intronic rs2995310 ADAM8 AU NM_001164489 exon5 c.5756-138C>T 0.891973 0.9276 Uncertain 10_135082874_G->A 10 135082874 135082874 G A snp 2768.77 1/1 99 105 0 105 1.0 intronic rs2995311 ADAM8 AU NM_001164489 exon5 c.5756-74G>A 0.891573 0.9276 Uncertain 10_135083164_C->T 10 135083164 135083164 C T snp 296.78 1/1 24 9 0 9 1.0 intronic rs2275719 ADAM8 AU NM_001164489 exon5 c.5841+131C>T 0.893171 0.9286 Uncertain 10_135083669_C->T 10 135083669 135083669 C T snp 325.78 1/1 27 9 0 9 1.0 intronic rs2995312 ADAM8 AU NM_001164489 exon6 c.6286+191C>T 0.893171 0.9286 Uncertain 10_135083812_C->A 10 135083812 135083812 C A snp 996.77 1/1 72 32 0 32 1.0 intronic rs885023 ADAM8 AU NM_001164489 exon7 c.6671-51C>A 0.722045 0.9177 0.719930 Uncertain 10_135084232_-->AGA 10 135084232 135084232 - AGA indel 4160.73 1/1 99 71 0 71 1.0 intronic rs10632315 ADAM8 AU NM_001164489 exon8 c.7047-7insAGA 0.867412 0.9256 0.865668 0.8742 0.9479 Uncertain 10_135084322_A->G 10 135084322 135084322 A G snp 3213.77 1/1 99 118 0 118 1.0 intronic rs3008321 ADAM8 AU NM_001164489 exon8 c.7117+13A>G 0.902556 0.9286 0.901633 0.8956 0.954 Uncertain 10_135084601_T->C 10 135084601 135084601 T C snp 4901.77 1/1 99 178 0 178 1.0 intronic rs2995314 ADAM8 AU NM_001164489 exon9 c.7382+27T>C 0.902955 0.9286 0.903325 0.8976 0.9545 Uncertain 10_135085321_C->T 10 135085321 135085321 C T snp 3664.77 1/1 99 129 1 128 0.99 exonic rs1131720 ADAM8 AU synonymous SNV NM_001164490 exon10 c.G978A p.A326A 0.846645 0.9167 0.848529 0.8761 0.9370 Uncertain 10_135085426_A->G 10 135085426 135085426 A G snp 5227.77 1/1 99 191 0 191 1.0 exonic rs1131719 ADAM8 AU synonymous SNV NM_001164490 exon10 c.T873C p.C291C 0.91893 0.9286 0.919576 0.9017 0.9541 Uncertain 10_135085754_G->A 10 135085754 135085754 G A snp 4641.77 1/1 99 165 0 165 1.0 exonic rs1131718 ADAM8 AU synonymous SNV NM_001164490 exon9 c.C783T p.T261T 0.883586 0.9286 0.879025 0.8791 0.9321 Uncertain 10_135086203_C->T 10 135086203 135086203 C T snp 388.77 1/1 30 11 0 11 1.0 intronic rs3008323 ADAM8 AU NM_001164489 exon15 c.9109-98C>T 0.893371 0.9286 Uncertain 10_135086380_C->T 10 135086380 135086380 C T snp 2624.77 1/1 99 101 0 101 1.0 intronic rs3008324 ADAM8 AU NM_001164489 exon15 c.9178+10C>T 0.89377 0.9286 0.891790 0.8934 0.9544 Uncertain 10_135086676_A->G 10 135086676 135086676 A G snp 363.77 1/1 30 10 0 10 1.0 intronic rs3008325 ADAM8 AU NM_001164489 exon17 c.9565-81A>G 0.902955 0.9286 Uncertain 10_135087521_G->A 10 135087521 135087521 G A snp 3739.77 1/1 99 141 2 139 0.99 exonic rs3008326 ADAM8 AU nonsynonymous SNV NM_001164490 exon3 c.C136T p.L46F 0.724241 0.9167 0.710019 0.8150 0.9383 Pathogenic 10_135089035_A->G 10 135089035 135089035 A G snp 3013.77 1/1 99 109 0 109 1.0 exonic rs2275725 ADAM8 AU nonsynonymous SNV NM_001109 exon2 c.T103C p.W35R 0.903155 0.9286 0.909171 0.9016 0.9438 Pathogenic 10_135090183_A->G 10 135090183 135090183 A G snp 905.77 1/1 30 37 2 35 0.95 intronic rs2995317 ADAM8 AU NM_001164489 exon22 c.13083-92A>G 0.904153 0.9286 Uncertain 10_135096545_G->A 10 135096545 135096545 G A snp 2597.77 0/1 99 214 111 103 0.48 intronic rs191099166 TUBGCP2 AU NM_006659 exon4 c.3312-36G>A 0.000399361 0.002 5.057e-05 0.0005 Uncertain 10_135096784_A->G 10 135096784 135096784 A G snp 2080.77 1/1 99 54 0 54 1.0 intronic rs2995325 TUBGCP2 AU NM_006659 exon4 c.3456+59A>G 0.88758 0.9286 Uncertain 10_135097224_T->G 10 135097224 135097224 T G snp 139.03 1/1 12 4 0 4 1.0 intronic rs56403249 TUBGCP2 AU NM_006659 exon5 c.4116-161T>G 0.439696 0.498 Uncertain 10_135097230_A->T 10 135097230 135097230 A T snp 99.28 1/1 9 4 0 4 1.0 intronic rs55830225 TUBGCP2 AU NM_006659 exon5 c.4116-155A>T 0.510383 0.6062 Uncertain 10_135097232_T->G 10 135097232 135097232 T G snp 176.9 1/1 15 5 0 5 1.0 intronic rs56045704 TUBGCP2 AU NM_006659 exon5 c.4116-153T>G 0.510383 0.6062 Uncertain 10_135097434_A->G 10 135097434 135097434 A G snp 3620.77 1/1 99 131 0 131 1.0 exonic rs2995326 TUBGCP2 AU synonymous SNV NM_001256618 exon13 c.T1707C p.F569F 0.901957 0.9286 0.895202 0.8962 0.9548 Uncertain 10_135098672_G->A 10 135098672 135098672 G A snp 6066.77 1/1 99 218 0 218 1.0 exonic rs3008334 TUBGCP2 AU synonymous SNV NM_001256618 exon12 c.C1551T p.Y517Y 0.887979 0.9286 0.885207 0.8917 0.9547 Uncertain 10_135098830_T->C 10 135098830 135098830 T C snp 6507.77 1/1 99 221 0 221 1.0 intronic rs3008335 TUBGCP2 AU NM_006659 exon6 c.5448+113T>C 0.897564 0.9286 0.9006 0.9536 Uncertain 10_135098845_C->T 10 135098845 135098845 C T snp 6941.77 1/1 99 240 0 240 1.0 intronic rs2995327 TUBGCP2 AU NM_006659 exon7 c.5690-114C>T 0.723442 0.9107 0.8034 0.9326 Uncertain 10_135103311_-->GCCCGCTGCGCCGCGGACGCCAAGTCCCT 10 135103311 135103311 - GCCCGCTGCGCCGCGGACGCCAAGTCCCT indel 5701.73 1/1 57 19 0 19 1.0 intronic rs141370078 TUBGCP2 AU NM_006659 exon10 c.10058-16insGCCCGCTGCGCCGCGGACGCCAAGTCCCT Uncertain 10_135105873_G->A 10 135105873 135105873 G A snp 35.74 1/1 6 2 0 2 1.0 intronic rs377434876 TUBGCP2 AU NM_006659 exon11 c.12733-129G>A Uncertain 10_135105882_G->A 10 135105882 135105882 G A snp 119.03 1/1 12 5 0 5 1.0 intronic TUBGCP2 AU NM_006659 exon11 c.12733-120G>A Uncertain 10_135105889_C->T 10 135105889 135105889 C T snp 308.78 1/1 27 9 0 9 1.0 intronic rs573244736 TUBGCP2 AU NM_006659 exon11 c.12733-113C>T 0.439696 0.5446 Uncertain 10_135105897_G->A 10 135105897 135105897 G A snp 253.77 0/1 86 13 3 10 0.77 intronic rs150604052 TUBGCP2 AU NM_006659 exon11 c.12733-105G>A Uncertain 10_135105929_T->C 10 135105929 135105929 T C snp 1227.77 1/1 93 41 0 41 1.0 intronic rs4993738 TUBGCP2 AU NM_006659 exon11 c.12733-73T>C 0.666534 0.746 Uncertain 10_135105932_A->G 10 135105932 135105932 A G snp 1247.77 1/1 93 41 1 40 0.98 intronic rs4993737 TUBGCP2 AU NM_006659 exon11 c.12733-70A>G 0.608626 0.7312 Uncertain 10_135105934_A->C 10 135105934 135105934 A C snp 1283.77 1/1 96 42 1 41 0.98 intronic rs4993736 TUBGCP2 AU NM_006659 exon11 c.12733-68A>C 0.715256 0.7371 Uncertain 10_135105949_TGTCCCTCCGTGTCCCCG->- 10 135105949 135105966 TGTCCCTCCGTGTCCCCG - indel 4019.73 0/1 99 59 37 22 0.37 intronic rs775182852 TUBGCP2 AU NM_006659 exon11 c.12733-53_12733-36delTGTCCCTCCGTGTCCCCG Uncertain 10_135105961_-->C 10 135105961 135105961 - C indel 2524.73 1/1 99 93 16 77 0.83 intronic rs55672466 TUBGCP2 AU NM_006659 exon11 c.12733-41insC 0.6568 0.8543 Uncertain 10_135105983_C->T 10 135105983 135105983 C T snp 3388.77 1/1 99 125 1 124 0.99 intronic rs2864768 TUBGCP2 AU NM_006659 exon11 c.12733-19C>T 0.365216 0.5238 0.4496 0.5895 Uncertain 10_135141572_G->T 10 135141572 135141572 G T snp 2096.77 1/1 99 69 0 69 1.0 intronic rs2298122 CALY AU NM_015722 exon4 c.2189+53G>T 0.726637 0.9296 Uncertain 10_135160950_C->T 10 135160950 135160950 C T snp 5131.77 1/1 99 210 0 210 1.0 intronic rs4838721 PRAP1 AU NM_145202 exon1 c.8+21C>T 0.720647 0.9246 0.695525 0.7919 0.9366 Uncertain 10_135165790_A->G 10 135165790 135165790 A G snp 6900.77 1/1 99 237 0 237 1.0 exonic rs4369319 PRAP1 AU nonsynonymous SNV NM_001145201 exon5 c.A275G p.H92R 0.992013 1 0.989543 0.9973 1 1 T 0.0 P -0.964 T 0.0 T 0.0 T Pathogenic 10_135170896_C->G 10 135170896 135170896 C G snp 1011.77 0/1 99 91 46 45 0.49 UTR5 rs79704049 FUOM AU 0.0441294 0.1528 Uncertain 10_135171364_T->C 10 135171364 135171364 T C snp 440.77 1/1 33 15 0 15 1.0 intronic rs1891372 FUOM AU NM_198472 exon6 c.2424-62T>C 0.983027 1 Uncertain 10_135178087_A->C 10 135178087 135178087 A C snp 3648.77 1/1 99 130 0 130 1.0 intronic rs10745294 ECHS1 AR NM_004092 exon2 c.1790-74A>C 0.887181 0.9851 Uncertain 10_135179363_G->C 10 135179363 135179363 G C snp 117.77 0/1 66 6 2 4 0.67 intronic rs56055735 ECHS1 AR NM_004092 exon3 c.3108-116G>C 0.316693 0.3948 Uncertain 10_135179458_G->C 10 135179458 135179458 G C snp 2387.77 1/1 99 79 0 79 1.0 intronic rs6537598 ECHS1 AR NM_004092 exon3 c.3108-21G>C 0.924321 0.9851 0.922267 0.9733 0.9749 Uncertain 10_135179777_C->T 10 135179777 135179777 C T snp 182.9 1/1 15 6 0 6 1.0 intronic rs6537599 ECHS1 AR NM_004092 exon3 c.3228+178C>T 0.921526 0.9861 Uncertain 10_135180430_A->G 10 135180430 135180430 A G snp 2114.77 1/1 99 73 0 73 1.0 exonic rs2230261 ECHS1 AR synonymous SNV NM_004092 exon5 c.T582C p.T194T 0.947883 1 0.941873 0.9841 1 Uncertain 10_135183709_G->T 10 135183709 135183709 G T snp 212.84 1/1 18 7 0 7 1.0 intronic rs7076036 ECHS1 AR NM_004092 exon6 c.7164+174G>T 0.98103 1 Uncertain 10_135184126_G->A 10 135184126 135184126 G A snp 3285.77 1/1 99 126 0 126 1.0 exonic rs1049951 ECHS1 AR nonsynonymous SNV NM_004092 exon2 c.C224T p.T75I 0.821286 0.9851 0.801338 0.9131 0.9744 0.13 T 0.0 P -0.974 T 0.04 T 0.052 T Pathogenic 10_135184421_C->G 10 135184421 135184421 C G snp 309.78 1/1 24 8 0 8 1.0 intronic rs7894051 ECHS1 AR NM_004092 exon7 c.7890+160C>G 0.885383 1 Uncertain 10_135186806_A->G 10 135186806 135186806 A G snp 829.77 1/1 60 32 0 32 1.0 exonic rs10466126 ECHS1 AR nonsynonymous SNV NM_004092 exon1 c.T32C p.V11A 0.675919 0.9355 0.604804 0.7552 0.9547 0.78 T 0.0 P -0.998 T 0.0 T 0.0 T Pathogenic 10_135192762_C->G 10 135192762 135192762 C G snp 143.03 1/1 12 5 0 5 1.0 UTR5 rs12250188 PAOX AU 0.888379 0.9851 1 1 Uncertain 10_135194890_A->G 10 135194890 135194890 A G snp 1373.77 1/1 99 38 0 38 1.0 intronic rs10745295 PAOX AU NM_152911 exon3 c.2143-73A>G 0.965056 1 0.965615 Uncertain 10_135197419_G->A 10 135197419 135197419 G A snp 1661.77 1/1 99 60 0 60 1.0 intronic rs4240520 PAOX AU NM_152911 exon4 c.4643-44G>A 0.817292 0.9821 0.771875 0.8589 0.9719 Uncertain 10_135202594_T->C 10 135202594 135202594 T C snp 3427.77 1/1 99 122 0 122 1.0 intronic rs10776679 PAOX AU NM_152911 exon5 c.9752+22T>C 0.871805 0.9821 0.868061 0.9278 0.9747 Uncertain 10_135202901_G->C 10 135202901 135202901 G C snp 99.28 1/1 9 3 0 3 1.0 intronic rs2153817 PAOX AU NM_152911 exon6 c.10273-192G>C 0.709665 0.9246 Uncertain 10_135204799_C->T 10 135204799 135204799 C T snp 7129.77 1/1 99 250 0 250 1.0 intronic rs6537600 PAOX AU NM_152911 exon7 c.11995-16C>T 0.846246 0.9812 0.826157 0.8813 0.9696 Uncertain 10_135204950_C->G 10 135204950 135204950 C G snp 5318.77 1/1 99 182 0 182 1.0 exonic rs1046175 PAOX AU nonsynonymous SNV NM_207128 exon6 c.C1369G p.Q457E 0.845048 0.9792 0.828591 0.8826 0.9694 0.18 T 0.000 P -0.950 T 0.0 T 0.001 T Pathogenic 10_135205009_C->G 10 135205009 135205009 C G snp 3867.77 1/1 99 132 0 132 1.0 exonic rs1046178 PAOX AU synonymous SNV NM_207128 exon6 c.C1428G p.P476P 0.845847 0.9812 0.832240 0.8856 0.9686 Uncertain 10_135207936_T->C 10 135207936 135207936 T C snp 580.77 1/1 42 22 0 22 1.0 intronic rs10160083 MTG1 AU NM_138384 exon1 c.112+100T>C 0.988019 1 Uncertain 10_135209105_A->G 10 135209105 135209105 A G snp 637.77 1/1 48 20 0 20 1.0 intronic rs4838742 MTG1 AU NM_138384 exon2 c.1492-111A>G 0.989018 1 Uncertain 10_135209484_C->T 10 135209484 135209484 C T snp 363.77 0/1 99 31 17 14 0.45 intronic rs11101736 MTG1 AU NM_138384 exon3 c.1942-182C>T 0.0139776 0.0645 Uncertain 10_135211892_A->G 10 135211892 135211892 A G snp 1927.77 1/1 99 64 0 64 1.0 intronic rs2252852 MTG1 AU NM_138384 exon4 c.4214-46A>G 0.99401 1 0.992926 0.9983 1 Uncertain 10_135213263_T->C 10 135213263 135213263 T C snp 795.77 0/1 99 63 33 30 0.48 intronic rs2814206 MTG1 AU NM_138384 exon6 c.5399+140T>C 0.544329 0.6319 Uncertain 10_135215757_GGGGCT->- 10 135215757 135215762 GGGGCT - indel 2706.73 0/1 99 110 41 69 0.63 intronic rs145673810 MTG1 AU NM_138384 exon8 c.8025+8_8025+13delGGGGCT 0.422524 0.3671 0.3115 0.3655 Uncertain 10_135232934_C->T 10 135232934 135232934 C T snp 610.77 0/1 99 48 22 26 0.54 intronic rs2243619 MTG1 AU NM_138384 exon10 c.25259-49C>T 0.522364 0.628 0.575923 0.6115 0.6657 Uncertain 10_135233541_A->G 10 135233541 135233541 A G snp 6837.77 1/1 99 248 0 248 1.0 exonic rs2255246 MTG1 AU nonsynonymous SNV NM_138384 exon11 c.A877G p.I293V 0.997204 1 0.996771 0.9992 1 1 T 0.0 P -0.965 T 0.0 T 0.001 T Pathogenic 10_135237003_G->A 10 135237003 135237003 G A snp 162.77 0/1 99 15 6 9 0.6 exonic rs4077586 SPRN AU synonymous SNV NM_001012508 exon2 c.C183T p.G61G 0.30012 0.3343 0.2857 . Uncertain 10_135237060_A->G 10 135237060 135237060 A G snp 277.8 1/1 21 11 0 11 1.0 exonic rs2480253 SPRN AU synonymous SNV NM_001012508 exon2 c.T126C p.G42G 0.98762 1 0.9964 1 Uncertain 10_135237166_G->A 10 135237166 135237166 G A snp 81.77 0/1 99 16 10 6 0.38 exonic rs2492666 SPRN AU nonsynonymous SNV NM_001012508 exon2 c.C20T p.T7M 0.484026 0.628 0.566829 0.6539 0.6632 0.02 T 0.0 P -0.954 T 0.576 P 0.096 P Pathogenic 10_135237196_C->T 10 135237196 135237196 C T snp 79.77 0/1 99 15 10 5 0.33 UTR5 rs4838682 SPRN AU 0.486621 0.628 0.567187 0.6537 0.6679 Uncertain 10_135267445_T->C 10 135267445 135267445 T C snp 777.77 0/1 99 51 24 27 0.53 ncRNA_exonic rs2253522 SCART1 AU 0.741014 0.746 Uncertain 10_135267738_T->C 10 135267738 135267738 T C snp 297.77 0/1 99 27 16 11 0.41 ncRNA_intronic rs2253529 SCART1 AU 0.734225 0.746 Uncertain 10_135269955_C->T 10 135269955 135269955 C T snp 1875.77 0/1 99 137 62 75 0.55 ncRNA_exonic rs11101759 SCART1 AU 0.171126 0.254 0.1232 0.2121 Uncertain 10_135270838_C->- 10 135270838 135270838 C - indel 667.73 0/1 99 42 20 22 0.52 ncRNA_exonic rs144029024 SCART1 AU 0.1712 0.2172 Uncertain 10_135271130_C->T 10 135271130 135271130 C T snp 1039.77 0/1 99 108 57 51 0.47 ncRNA_exonic rs10466128 SCART1 AU 0.209065 0.1905 Uncertain 10_135271598_T->C 10 135271598 135271598 T C snp 54.74 1/1 6 2 0 2 1.0 ncRNA_exonic rs943980 SCART1 AU 0.811701 0.748 Uncertain 10_135271789_C->T 10 135271789 135271789 C T snp 2277.77 0/1 99 173 71 102 0.59 ncRNA_exonic rs2480245 SCART1 AU 0.810903 0.748 0.9062 0.7772 1 T 0.000 P -0.968 T Uncertain 10_135273463_C->G 10 135273463 135273463 C G snp 671.77 0/1 99 54 29 25 0.46 ncRNA_exonic rs731947 SCART1 AU 0.721645 0.746 0.8652 0.7977 0.04 T 1.0 P -1.081 T 0.984 D 0.841 D Uncertain 10_135278193_A->G 10 135278193 135278193 A G snp 1371.77 0/1 99 107 45 62 0.58 ncRNA_exonic rs2492654 SCART1 AU 0.805312 0.749 0.8948 0.7870 0.65 T 1.000 P -0.960 T 0.001 T 0.0 T Uncertain 10_135278245_TGGGGTG->- 10 135278245 135278251 TGGGGTG - indel 4880.73 0/1 99 99 28 71 0.72 ncRNA_exonic rs111769579 SCART1 AU 0.24361 0.1964 0.1711 0.235 Uncertain 10_135279810_T->G 10 135279810 135279810 T G snp 1804.77 0/1 99 176 96 80 0.45 ncRNA_exonic rs2243909 SCART1 AU 0.703275 0.6161 0.8139 0.5941 0.65 T 0.083 P -0.992 T Uncertain 10_135280765_C->T 10 135280765 135280765 C T snp 763.77 0/1 99 84 49 35 0.42 ncRNA_exonic rs2246634 SCART1 AU 0.811901 0.748 0.8929 0.7830 0.42 T 0.0 P -1.030 T Uncertain 10_135281333_C->T 10 135281333 135281333 C T snp 770.77 0/1 99 77 43 34 0.44 ncRNA_intronic rs35443213 SCART1 AU 0.127396 0.1845 0.1541 0.2277 Uncertain 10_135281637_A->C 10 135281637 135281637 A C snp 692.77 1/1 51 20 0 20 1.0 ncRNA_exonic rs10776682 SCART1 AU 0.454073 0.4435 Uncertain 10_135340866_-->C 10 135340866 135340866 - C indel 811.73 1/1 60 20 0 20 1.0 upstream rs11445593 CYP2E1 AU 0.971645 1 0.968185 0.9915 1 Uncertain 10_135342260_C->T 10 135342260 135342260 C T snp 143.77 0/1 99 13 8 5 0.38 intronic rs943975 CYP2E1 AU NM_000773 exon2 c.1245+116C>T 0.76258 0.7976 Uncertain 10_135345340_C->T 10 135345340 135345340 C T snp 65.77 0/1 94 12 8 4 0.33 intronic rs2070674 CYP2E1 AU NM_000773 exon3 c.4339+102C>T 0.0692891 0.2103 Uncertain 10_135347397_T->C 10 135347397 135347397 T C snp 4613.77 1/1 99 171 0 171 1.0 exonic rs915909 CYP2E1 AU synonymous SNV NM_000773 exon6 c.T963C p.I321I 0.972843 1 0.965247 0.9912 1 Uncertain 10_135347533_A->G 10 135347533 135347533 A G snp 610.77 1/1 45 18 0 18 1.0 intronic rs943976 CYP2E1 AU NM_000773 exon6 c.6502+132A>G 0.991214 1 Uncertain 10_135350871_G->T 10 135350871 135350871 G T snp 388.77 1/1 30 12 0 12 1.0 intronic rs8192777 CYP2E1 AU NM_000773 exon7 c.9855+117G>T 0.700879 0.7946 Uncertain 10_135351137_G->C 10 135351137 135351137 G C snp 391.77 1/1 30 11 0 11 1.0 intronic rs2070676 CYP2E1 AU NM_000773 exon8 c.10355-117G>C 0.692692 0.7946 Uncertain 10_135351174_T->A 10 135351174 135351174 T A snp 1510.77 1/1 99 47 0 47 1.0 intronic rs2070677 CYP2E1 AU NM_000773 exon8 c.10355-80T>A 0.692891 0.7946 Uncertain 10_135351362_T->C 10 135351362 135351362 T C snp 6416.77 1/1 99 234 0 234 1.0 exonic rs2515641 CYP2E1 AU synonymous SNV NM_000773 exon8 c.T1263C p.F421F 0.700879 0.7946 0.718207 0.8302 0.8274 Uncertain 10_135367655_A->G 10 135367655 135367655 A G snp 3453.77 1/1 99 117 0 117 1.0 UTR3 rs11101821 SYCE1 AR 0.154553 0.2698 Uncertain 10_135368163_A->G 10 135368163 135368163 A G snp 1592.77 1/1 99 64 0 64 1.0 intronic rs2149616 SYCE1 AR NM_001143763 exon1 c.39+331A>G 0.197284 0.2698 0.122079 0.1431 0.2633 Uncertain 10_135368325_A->C 10 135368325 135368325 A C snp 499.77 1/1 39 15 0 15 1.0 intronic rs2149617 SYCE1 AR NM_001143763 exon1 c.39+493A>C 0.154752 0.2698 Uncertain 10_135368452_A->G 10 135368452 135368452 A G snp 1200.77 1/1 87 45 0 45 1.0 intronic rs3737029 SYCE1 AR NM_001143763 exon2 c.1061-402A>G 0.154752 0.2698 0.1024 0.2608 Uncertain 10_135368462_T->C 10 135368462 135368462 T C snp 1345.77 1/1 96 49 0 49 1.0 intronic rs2183163 SYCE1 AR NM_001143763 exon2 c.1061-392T>C 0.197085 0.2698 0.1306 0.2597 Uncertain 10_135368489_-->GCTGAGACGG 10 135368489 135368489 - GCTGAGACGG indel 5819.73 1/1 99 50 0 50 1.0 intronic rs3831169 SYCE1 AR NM_001143763 exon2 c.1061-365insGCTGAGACGG 0.154353 0.2688 0.064262 0.1400 0.2615 Uncertain 10_135368590_T->C 10 135368590 135368590 T C snp 1200.77 1/1 87 44 0 44 1.0 intronic rs3737031 SYCE1 AR NM_001143764 exon1 c.138-43T>C 0.154752 0.2698 0.078406 0.1336 0.2677 0.11 T 0.0 P -0.920 T 0.004 T 0.005 T Uncertain 10_135368709_C->A 10 135368709 135368709 C A snp 493.77 1/1 39 16 0 16 1.0 intronic rs3737032 SYCE1 AR NM_001143764 exon1 c.138+76C>A 0.154752 0.2698 Uncertain 10_135368835_C->T 10 135368835 135368835 C T snp 1497.77 1/1 99 50 0 50 1.0 intronic rs3737034 SYCE1 AR NM_001143764 exon2 c.359-19C>T 0.154752 0.2698 0.084423 0.1229 0.2572 Uncertain 10_135368967_G->A 10 135368967 135368967 G A snp 1887.77 1/1 99 65 0 65 1.0 intronic rs11592461 SYCE1 AR NM_001143764 exon2 c.447+25G>A 0.154752 0.2698 0.082808 0.1229 0.2576 Uncertain 10_135369054_A->G 10 135369054 135369054 A G snp 1801.77 1/1 99 59 0 59 1.0 intronic rs3020514 SYCE1 AR NM_001143764 exon3 c.605-46A>G 0.938898 1 0.929868 0.9681 1 Uncertain 10_135369258_C->T 10 135369258 135369258 C T snp 4077.77 1/1 99 145 1 144 0.99 intronic rs3827688 SYCE1 AR NM_001143764 exon4 c.788-25C>T 0.154752 0.2698 0.084269 0.1240 0.2580 Uncertain 10_135369532_T->C 10 135369532 135369532 T C snp 3080.77 1/1 99 108 0 108 1.0 exonic rs3747881 SYCE1 AR nonsynonymous SNV NM_130784 exon10 c.A440G p.K147R 0.197284 0.2698 0.117561 0.1343 0.2560 0.93 T 0.0 P -1.003 T 0.0 T 0.001 T Pathogenic 10_135369643_T->C 10 135369643 135369643 T C snp 302.78 1/1 24 8 0 8 1.0 intronic rs3747880 SYCE1 AR NM_001143764 exon5 c.1056+92T>C 0.270767 0.2698 Uncertain 10_135370060_G->C 10 135370060 135370060 G C snp 618.77 1/1 48 18 0 18 1.0 intronic rs2987791 SYCE1 AR NM_001143764 exon6 c.1767-202G>C 0.658746 0.7966 Uncertain 10_135370343_G->A 10 135370343 135370343 G A snp 4306.77 1/1 99 151 1 150 0.99 intronic rs8181464 SYCE1 AR NM_001143764 exon6 c.1831+17G>A 0.154752 0.2698 0.082513 0.1788 0.3642 Uncertain 10_135370370_C->T 10 135370370 135370370 C T snp 3980.77 1/1 99 130 1 129 0.99 intronic rs8181332 SYCE1 AR NM_001143764 exon6 c.1831+44C>T 0.186502 0.2698 0.114332 0.1653 0.3167 Uncertain 10_135370407_-->CA 10 135370407 135370407 - CA indel 5253.73 1/1 99 107 0 107 1.0 intronic rs11473038 SYCE1 AR NM_001143764 exon6 c.1831+81insCA 0.277756 0.2698 Uncertain 10_135370470_T->C 10 135370470 135370470 T C snp 4122.77 1/1 99 146 2 144 0.99 intronic rs8181425 SYCE1 AR NM_001143764 exon7 c.2075-100T>C 0.197085 0.2698 Uncertain 10_135370633_C->T 10 135370633 135370633 C T snp 3505.77 1/1 99 125 0 125 1.0 exonic rs8181356 SYCE1 AR synonymous SNV NM_130784 exon8 c.G294A p.K98K 0.154752 0.2698 0.082654 0.1227 0.2554 Uncertain 10_135370639_C->A 10 135370639 135370639 C A snp 3258.77 1/1 99 110 0 110 1.0 exonic rs8181357 SYCE1 AR nonsynonymous SNV NM_130784 exon8 c.G288T p.E96D 0.154752 0.2698 0.084269 0.1227 0.2555 0.18 T 0.008 P -0.997 T 0.015 T 0.027 T Pathogenic 10_135370760_C->T 10 135370760 135370760 C T snp 222.84 1/1 18 7 0 7 1.0 intronic rs8181359 SYCE1 AR NM_001143764 exon7 c.2165+100C>T 0.154752 0.2698 Uncertain 10_135371135_C->T 10 135371135 135371135 C T snp 56.74 1/1 6 2 0 2 1.0 intronic rs11101824 SYCE1 AR NM_001143764 exon8 c.2872-232C>T 0.154553 0.2698 Uncertain 10_135371194_T->A 10 135371194 135371194 T A snp 263.8 1/1 21 9 0 9 1.0 intronic rs8181437 SYCE1 AR NM_001143764 exon8 c.2872-173T>A 0.154752 0.2698 Uncertain 10_135371262_G->C 10 135371262 135371262 G C snp 694.77 1/1 51 24 0 24 1.0 intronic rs8181294 SYCE1 AR NM_001143764 exon8 c.2872-105G>C 0.154752 0.2698 Uncertain 10_135371467_T->C 10 135371467 135371467 T C snp 787.77 1/1 57 31 0 31 1.0 intronic rs8181456 SYCE1 AR NM_001143764 exon8 c.2927+45T>C 0.154752 0.2698 0.084576 0.1231 0.2576 Uncertain 10_135371566_G->A 10 135371566 135371566 G A snp 681.77 1/1 51 18 0 18 1.0 intronic rs8181309 SYCE1 AR NM_001143764 exon9 c.3175-104G>A 0.154752 0.2698 Uncertain 10_135371606_T->C 10 135371606 135371606 T C snp 1595.77 1/1 99 49 0 49 1.0 intronic rs8181458 SYCE1 AR NM_001143764 exon9 c.3175-64T>C 0.154752 0.2698 0.077968 Uncertain 10_135371835_-->C 10 135371835 135371835 - C indel 1962.73 1/1 99 59 0 59 1.0 intronic rs35408926 SYCE1 AR NM_001143764 exon9 c.3223+117insC 0.154752 0.2698 Uncertain 10_135371920_G->A 10 135371920 135371920 G A snp 96.28 1/1 9 3 0 3 1.0 intronic rs67106646 SYCE1 AR NM_001143764 exon9 c.3223+202G>A 0.154752 0.2698 Uncertain 10_135372310_T->C 10 135372310 135372310 T C snp 979.77 1/1 72 28 0 28 1.0 intronic rs10857748 SYCE1 AR NM_001143764 exon10 c.3885-70T>C 0.154752 0.2698 Uncertain 10_135372597_C->T 10 135372597 135372597 C T snp 3509.77 1/1 99 108 0 108 1.0 intronic rs10857749 SYCE1 AR NM_001143764 exon10 c.3960+142C>T 0.172324 0.2698 Uncertain 10_135372659_A->G 10 135372659 135372659 A G snp 3047.77 1/1 99 93 0 93 1.0 intronic rs10857750 SYCE1 AR NM_001143764 exon11 c.4309-145A>G 0.154752 0.2698 Uncertain 10_135372870_C->G 10 135372870 135372870 C G snp 4353.77 1/1 99 157 1 156 0.99 splicing rs11101825 SYCE1 AR NM_001143764 exon11 c.4369+6C>G 0.154752 0.2698 0.083884 0.1228 0.2563 Pathogenic 10_135373010_G->A 10 135373010 135373010 G A snp 176.9 1/1 15 5 0 5 1.0 intronic rs10857751 SYCE1 AR NM_001143764 exon11 c.4369+146G>A 0.154752 0.2698 Uncertain 10_135373435_A->T 10 135373435 135373435 A T snp 607.77 1/1 45 20 0 20 1.0 intronic rs3813872 SYCE1 AR NM_001143764 exon12 c.5099-159A>T 0.154752 0.2698 Uncertain 10_135373591_C->T 10 135373591 135373591 C T snp 2235.77 1/1 99 84 0 84 1.0 splicing rs3813873 SYCE1 AR NM_001143764 exon12 c.5099-3C>T 0.168331 0.2698 0.095033 0.1265 0.2552 Pathogenic 10_135373694_G->A 10 135373694 135373694 G A snp 1511.77 1/1 99 57 0 57 1.0 intronic rs10857752 SYCE1 AR NM_001143764 exon12 c.5162+37G>A 0.155351 0.2698 0.074463 0.1234 0.2564 Uncertain 10_135373768_T->C 10 135373768 135373768 T C snp 570.77 1/1 42 18 0 18 1.0 intronic rs10857753 SYCE1 AR NM_001143764 exon12 c.5162+111T>C 0.154752 0.2698 Uncertain 10_135378802_C->T 10 135378802 135378802 C T snp 1284.77 1/1 93 47 0 47 1.0 intronic rs34776401 SYCE1 AR NM_001143764 exon13 c.10465-158C>T 0.150359 0.2698 Uncertain 10_135381215_A->G 10 135381215 135381215 A G snp 182.9 1/1 15 5 0 5 1.0 ncRNA_exonic rs3020499 SPRNP1 AU 0.68151 0.7966 Uncertain 10_135381276_T->C 10 135381276 135381276 T C snp 229.84 1/1 18 8 0 8 1.0 ncRNA_exonic rs3020500 SPRNP1 AU 0.68151 0.7966 Uncertain 10_135381390_G->A 10 135381390 135381390 G A snp 307.78 1/1 24 9 0 9 1.0 ncRNA_exonic rs11101844 SPRNP1 AU 0.150559 0.2698 0.1978 0.2868 0 D 0.0 P -1.042 T Uncertain 10_135381425_G->A 10 135381425 135381425 G A snp 392.77 1/1 30 13 0 13 1.0 ncRNA_exonic rs11101845 SPRNP1 AU 0.150559 0.2698 0.1755 0.2676 0 D 1.000 P -1.034 T Uncertain 10_135381443_C->T 10 135381443 135381443 C T snp 491.77 1/1 36 18 0 18 1.0 ncRNA_exonic rs11101846 SPRNP1 AU 0.163938 0.2708 0.1747 0.2708 0 D 0.000 P -1.025 T Uncertain 10_135381623_T->C 10 135381623 135381623 T C snp 3986.77 1/1 99 152 0 152 1.0 ncRNA_exonic rs3020502 SPRNP1 AU 0.681709 0.7976 0.8420 0.7955 0 D 0.0 P -0.902 T Uncertain 10_135381766_C->T 10 135381766 135381766 C T snp 2794.77 1/1 99 109 0 109 1.0 ncRNA_exonic rs3020503 SPRNP1 AU 0.68151 0.7976 0.8408 0.7945 Uncertain 10_135381927_T->G 10 135381927 135381927 T G snp 463.77 1/1 33 21 0 21 1.0 ncRNA_exonic rs2987800 SPRNP1 AU 0.68151 0.7976 Uncertain 10_135472915_C->A 10 135472915 135472915 C A snp 43.77 0/1 72 24 10 14 0.58 intergenic FRG2B AU Uncertain 10_135472929_C->T 10 135472929 135472929 C T snp 55.77 0/1 84 43 35 8 0.19 intergenic FRG2B AU Uncertain 10_135472947_G->C 10 135472947 135472947 G C snp 168.77 0/1 99 73 55 18 0.25 intergenic FRG2B AU Uncertain 10_135472959_G->T 10 135472959 135472959 G T snp 437.77 0/1 99 76 24 52 0.68 intergenic FRG2B AU Uncertain 10_135472960_C->G 10 135472960 135472960 C G snp 455.77 0/1 99 76 24 52 0.68 intergenic FRG2B AU Uncertain 10_135472967_A->G 10 135472967 135472967 A G snp 455.77 0/1 99 84 24 60 0.71 intergenic rs183898919 FRG2B AU Uncertain 10_135472978_G->A 10 135472978 135472978 G A snp 51.77 0/1 80 89 78 11 0.12 intergenic rs199816809 FRG2B AU Uncertain 10_135472983_ACT->- 10 135472983 135472985 ACT - indel 1001.73 0/1 99 35 12 23 0.66 intergenic FRG2B AU Uncertain 10_135473014_C->A 10 135473014 135473014 C A snp 49.77 0/1 78 101 83 18 0.18 intergenic rs80193692 FRG2B AU 0.198682 0.2669 Uncertain 10_135473020_C->T 10 135473020 135473020 C T snp 262.77 0/1 99 102 58 44 0.43 intergenic FRG2B AU Uncertain 10_135473026_T->C 10 135473026 135473026 T C snp 259.77 0/1 99 104 60 44 0.42 intergenic FRG2B AU Uncertain 10_135473048_T->C 10 135473048 135473048 T C snp 449.77 0/1 99 100 36 64 0.64 intergenic rs370541096 FRG2B AU Uncertain 10_135473049_G->A 10 135473049 135473049 G A snp 262.77 0/1 99 99 57 42 0.42 intergenic rs374532556 FRG2B AU Uncertain 10_135473056_C->A 10 135473056 135473056 C A snp 59.77 0/1 88 93 76 17 0.18 intergenic FRG2B AU Uncertain 10_135473058_T->C 10 135473058 135473058 T C snp 643.77 ./1 99 89 0 89 1.0 intergenic rs199610978 FRG2B AU Uncertain 10_135473058_T->G 10 135473058 135473058 T G snp 643.77 ./1 99 89 0 89 1.0 intergenic rs199610978 FRG2B AU Uncertain 10_135473082_C->A 10 135473082 135473082 C A snp 189.77 0/1 99 69 40 29 0.42 intergenic rs182056352 FRG2B AU Uncertain 11_193096_T->C 11 193096 193096 T C snp 886.77 0/1 99 213 168 45 0.21 UTR5 rs2280539 SCGB1C1 AU 0.476016 0.4964 0.4438 Uncertain 11_193112_C->T 11 193112 193112 C T snp 986.77 0/1 99 218 172 46 0.21 exonic rs7951297 SCGB1C1 AU nonsynonymous SNV NM_001097610 exon1 c.C13T p.R5C 0.266174 0.2411 0.273409 0.3043 0.2207 0.17 T 1 N -0.945 T 0.0 T 0.0 T Pathogenic 11_193194_T->C 11 193194 193194 T C snp 2007.77 0/1 99 131 33 98 0.75 intronic rs2686896 SCGB1C1 AU NM_145651 exon1 c.55+40T>C 0.654952 0.7679 0.6315 0.7671 Uncertain 11_193863_T->C 11 193863 193863 T C snp 1945.77 0/1 99 118 43 75 0.64 exonic rs2294081 SCGB1C1 AU synonymous SNV NM_001097610 exon2 c.T207C p.C69C 0.750799 0.8383 0.602769 0.6349 0.7665 Uncertain 11_193865_T->G 11 193865 193865 T G snp 1388.77 0/1 99 116 60 56 0.48 exonic rs2686894 SCGB1C1 AU nonsynonymous SNV NM_001097610 exon2 c.T209G p.I70R 0.493011 0.4812 0.5000 0.5 0.03 T 0.999 D -0.833 T 0.96 D 0.776 D Pathogenic 11_194247_C->T 11 194247 194247 C T snp 102.77 0/1 99 13 8 5 0.38 intronic rs3893426 SCGB1C1 AU NM_145651 exon3 c.1318-170C>T Uncertain 11_194323_-->C 11 194323 194323 - C indel 1245.73 0/1 99 101 46 55 0.54 intronic rs144736936 SCGB1C1 AU NM_145651 exon3 c.1318-94insC Uncertain 11_194598_C->T 11 194598 194598 C T snp 950.77 0/1 99 66 35 31 0.47 downstream rs79601819 SCGB1C1 AU Uncertain 11_194640_G->A 11 194640 194640 G A snp 280.77 0/1 99 25 16 9 0.36 downstream rs2979429 SCGB1C1 AU 0.436302 0.4484 Uncertain 11_197557_A->G 11 197557 197557 A G snp 3541.77 1/1 99 109 0 109 1.0 splicing rs7103852 ODF3 AU NM_001286136 exon3 c.256-3A>G 0.844848 0.9921 0.813750 0.9050 0.9935 Pathogenic 11_198062_C->G 11 198062 198062 C G snp 2740.77 0/1 99 250 138 112 0.45 intronic rs11605246 ODF3 AU NM_001286136 exon4 c.894-136C>G 0.0890575 0.003 0.1519 0 1 T 0.0 P -1.007 T 0.0 T 0.001 T Uncertain 11_205198_C->A 11 205198 205198 C A snp 294.78 1/1 24 8 0 8 1.0 UTR3 rs3782123 BET1L AU 0.511781 0.4464 Uncertain 11_205889_T->C 11 205889 205889 T C snp 1857.77 0/1 99 175 96 79 0.45 intronic rs72878029 BET1L AU NM_001098787 exon3 c.650-62T>C 0.090655 0.002 Uncertain 11_206089_G->A 11 206089 206089 G A snp 557.77 0/1 99 54 32 22 0.41 intronic rs3782120 BET1L AU NM_001098787 exon3 c.742+46G>A 0.180312 0.1935 0.214132 0.2295 0.1860 Uncertain 11_207170_C->T 11 207170 207170 C T snp 139.77 0/1 99 19 11 8 0.42 intronic BET1L AU NM_001098787 exon4 c.2001-132C>T Uncertain 11_207255_G->- 11 207255 207255 G - indel 742.73 0/1 99 39 16 23 0.59 intronic rs143657869 BET1L AU NM_001098787 exon4 c.2001-47delG 0.173522 0.1935 0.180655 0.2263 0.1497 Uncertain 11_207275_C->G 11 207275 207275 C G snp 543.77 0/1 99 40 16 24 0.6 intronic rs6598075 BET1L AU NM_001098787 exon4 c.2001-27C>G 0.24401 0.1935 0.195154 0.2877 0.2636 Uncertain 11_207400_A->G 11 207400 207400 A G snp 573.77 1/1 42 19 0 19 1.0 UTR5 rs71487219 BET1L AU 0.592652 0.4514 Uncertain 11_207410_C->T 11 207410 207410 C T snp 263.77 0/1 99 20 10 10 0.5 UTR5 rs58692051 BET1L AU 0.24381 0.1935 Uncertain 11_207462_A->G 11 207462 207462 A G snp 456.77 1/1 36 14 0 14 1.0 upstream rs11245998 BET1L AU 0.580671 0.4484 Uncertain 11_208840_C->T 11 208840 208840 C T snp 651.77 0/1 99 98 65 33 0.34 UTR5 rs201331095 RIC8A AU 0.000798722 0.004 0.0003 0.0048 Uncertain 11_209002_A->G 11 209002 209002 A G snp 1111.77 1/1 84 36 0 36 1.0 intronic rs2177173 RIC8A AU NM_001286134 exon1 c.84+64A>G 0.981629 1 Uncertain 11_209895_CCC->- 11 209895 209897 CCC - indel 4286.73 0/1 99 140 52 88 0.63 exonic rs3832797 RIC8A AU nonframeshift deletion NM_001286134 exon3 c.621_623del p.207_208del 0.413938 0.7629 0.310224 0.3677 0.7610 ID=COSM1317342;OCCURENCE=2(upper_aerodigestive_tract),1(haematopoietic_and_lymphoid_tissue),11(large_intestine) Uncertain 11_212408_C->T 11 212408 212408 C T snp 1186.77 0/1 99 100 53 47 0.47 intronic rs72878032 RIC8A AU NM_001286134 exon6 c.3561-7C>T 0.0922524 0.002 0.158797 0.1879 0.0007 Uncertain 11_214163_G->A 11 214163 214163 G A snp 656.77 0/1 99 47 23 24 0.51 intronic rs1533825 RIC8A AU NM_001286134 exon10 c.5375-66G>A 0.179712 0.1935 0.2706 0.2248 Uncertain 11_214169_T->C 11 214169 214169 T C snp 886.77 0/1 99 57 28 29 0.51 intronic rs1533824 RIC8A AU NM_001286134 exon10 c.5375-60T>C 0.195088 0.1935 0.3279 0.2339 Uncertain 11_218640_G->A 11 218640 218640 G A snp 139.77 0/1 99 18 11 7 0.39 intronic rs535716 SIRT3 AU NM_012239 exon2 c.2134-191G>A 0.227236 0.004 Uncertain 11_219089_T->C 11 219089 219089 T C snp 137.77 0/1 99 16 11 5 0.31 intronic rs511744 SIRT3 AU NM_012239 exon2 c.2344+48T>C 0.67472 0.4613 0.721965 0.7050 0.4562 Uncertain 11_230474_G->T 11 230474 230474 G T snp 3078.77 0/1 99 247 118 129 0.52 exonic rs61748606 SIRT3 AU nonsynonymous SNV NM_012239 exon4 c.C785A p.P262H 0.0091853 0.010534 0.0061 0 0.09 T 1 N -1.007 T 0.979 D 0.838 D Pathogenic 11_235894_T->G 11 235894 235894 T G snp 250.77 0/1 99 18 9 9 0.5 intronic rs9795476 SIRT3 AU NM_012239 exon7 c.19350-153T>G 0.816294 0.8075 Uncertain 11_236343_A->G 11 236343 236343 A G snp 141.03 1/1 12 4 0 4 1.0 UTR5 rs7118852 SIRT3 AU 0.999201 1 0.997681 0.9955 1 Uncertain 11_236871_T->C 11 236871 236871 T C snp 79.77 0/1 99 8 4 4 0.5 UTR5 rs2272563 PSMD13 AU 0.817093 0.8075 Uncertain 11_237087_A->G 11 237087 237087 A G snp 1416.77 0/1 99 143 77 66 0.46 exonic rs1045288 PSMD13 AU nonsynonymous SNV NM_002817 exon1 c.A38G p.N13S 0.817093 0.8075 0.791173 0.7783 0.8171 1 T 0.002 P -0.981 T 0.0 T 0.002 T Pathogenic 11_237209_G->A 11 237209 237209 G A snp 95.77 0/1 99 18 12 6 0.33 intronic rs56312618 PSMD13 AU NM_175932 exon1 c.95+65G>A 0.0916534 0.002 Uncertain 11_243987_G->A 11 243987 243987 G A snp 405.77 0/1 99 36 18 18 0.5 intronic rs6598060 PSMD13 AU NM_175932 exon2 c.6991-53G>A 0.815096 0.8036 0.780990 Uncertain 11_244106_A->G 11 244106 244106 A G snp 958.77 0/1 99 135 85 50 0.37 exonic rs10902112 PSMD13 AU nonsynonymous SNV NM_175932 exon2 c.A161G p.E54G 0.815296 0.8036 0.761227 0.7723 0.8106 0.0 P -1.031 T 0.003 T 0.002 T Pathogenic 11_244108_A->G 11 244108 244108 A G snp 1037.77 0/1 99 139 87 52 0.37 exonic rs7107362 PSMD13 AU nonsynonymous SNV NM_175932 exon2 c.A163G p.N55D 0.815296 0.8036 0.761766 0.7723 0.8105 0.0 P -1.044 T 0.048 T 0.03 T Pathogenic 11_244115_G->A 11 244115 244115 G A snp 994.77 0/1 99 142 91 51 0.36 exonic rs7128044 PSMD13 AU nonsynonymous SNV NM_175932 exon2 c.G170A p.C57Y 0.815296 0.8036 0.773861 0.7721 0.8105 0.0 P -1.051 T 0.0 T 0.0 T Pathogenic 11_244129_C->T 11 244129 244129 C T snp 972.77 0/1 99 142 93 49 0.35 exonic rs7116130 PSMD13 AU nonsynonymous SNV NM_175932 exon2 c.C184T p.R62W 0.815296 0.8036 0.777231 0.7758 0.8157 0.0 P -1.061 T 0.0 T 0.0 T Pathogenic 11_244141_G->A 11 244141 244141 G A snp 843.77 0/1 99 144 96 48 0.33 exonic rs7128029 PSMD13 AU nonsynonymous SNV NM_175932 exon2 c.G196A p.A66T 0.815296 0.8036 0.778222 0.7757 0.8153 0.0 P -1.067 T 0.0 T 0.0 T Pathogenic 11_244167_C->T 11 244167 244167 C T snp 715.77 0/1 99 121 86 35 0.29 exonic rs1128320 PSMD13 AU synonymous SNV NM_175932 exon2 c.C222T p.N74N 0.815296 0.8036 0.781716 0.7738 0.8138 Uncertain 11_244171_T->C 11 244171 244171 T C snp 726.77 0/1 99 119 84 35 0.29 exonic rs1128321 PSMD13 AU synonymous SNV NM_175932 exon2 c.T226C p.L76L 0.815096 0.8026 0.780640 0.7738 0.8137 Uncertain 11_244197_T->C 11 244197 244197 T C snp 456.77 0/1 99 95 70 25 0.26 exonic rs1128322 PSMD13 AU synonymous SNV NM_175932 exon2 c.T252C p.H84H 0.815296 0.8036 0.788911 0.7761 0.8162 Uncertain 11_244414_C->T 11 244414 244414 C T snp 1673.77 0/1 99 149 72 77 0.52 intronic rs2272565 PSMD13 AU NM_175932 exon3 c.7376-11C>T 0.815296 0.8036 0.789559 0.7764 0.8160 Uncertain 11_244491_TACCTTTTAG->- 11 244491 244500 TACCTTTTAG - indel 8058.73 0/1 99 176 78 98 0.56 intronic rs3830667 PSMD13 AU NM_175932 exon3 c.7420+22_7420+31delTACCTTTTAG 0.815296 0.8036 0.767434 0.7714 0.8100 Uncertain 11_251034_C->T 11 251034 251034 C T snp 176.9 1/1 15 5 0 5 1.0 intronic rs6598057 PSMD13 AU NM_175932 exon8 c.13816+169C>T 0.934505 0.996 Uncertain 11_252283_C->T 11 252283 252283 C T snp 79.77 0/1 63 6 2 4 0.67 intronic rs6598056 PSMD13 AU NM_175932 exon11 c.15455-221C>T 0.857029 0.8462 Uncertain 11_279798_G->A 11 279798 279798 G A snp 938.77 0/1 99 94 48 46 0.49 intronic rs4758626 NLRP6 AU NM_001276700 exon3 c.1264-35G>A 0.253594 0.0565 0.322875 0.3330 0.0593 Uncertain 11_280000_G->A 11 280000 280000 G A snp 276.77 0/1 99 28 17 11 0.39 intronic rs4758627 NLRP6 AU NM_001276700 exon4 c.1514-83G>A 0.254193 0.0655 Uncertain 11_280221_A->C 11 280221 280221 A C snp 996.77 0/1 99 97 57 40 0.41 exonic rs6421985 NLRP6 AU nonsynonymous SNV NM_001276700 exon4 c.A487C p.M163L 0.719848 0.2688 0.904052 0.7545 0.2390 0.8 T 0.0 P -0.978 T 0.0 T 0.0 T Pathogenic 11_280464_C->G 11 280464 280464 C G snp 1208.77 0/1 99 116 60 56 0.48 exonic rs77447196 NLRP6 AU nonsynonymous SNV NM_001276700 exon4 c.C730G p.P244A 0.103435 0.003 0.153509 0.1974 0.0008 0.75 T 0.0 P -1.089 T 0.245 T 0.197 T Pathogenic 11_280673_C->T 11 280673 280673 C T snp 1374.77 1/1 99 47 0 47 1.0 exonic rs12807092 NLRP6 AU synonymous SNV NM_001276700 exon4 c.C939T p.S313S 0.48742 0.2579 0.754265 0.7741 0.3929 Uncertain 11_280816_A->T 11 280816 280816 A T snp 5840.77 1/1 99 198 1 197 0.99 exonic rs7482965 NLRP6 AU nonsynonymous SNV NM_001276700 exon4 c.A1082T p.Y361F 0.700879 0.2877 0.671613 0.7933 0.2521 0.67 T 0.0 P -0.950 T 0.0 T 0.001 T Pathogenic 11_280817_T->C 11 280817 280817 T C snp 5992.77 1/1 99 203 0 203 1.0 exonic rs7482279 NLRP6 AU synonymous SNV NM_001276700 exon4 c.T1083C p.Y361Y 0.700879 0.2877 0.675150 0.7934 0.2524 Uncertain 11_298758_G->A 11 298758 298758 G A snp 2007.77 1/1 99 78 0 78 1.0 intronic rs2293745 IFITM5 AD NM_001025295 exon1 c.213+45G>A 0.303315 0.5119 0.232385 0.2781 0.5553 Uncertain 11_299411_C->G 11 299411 299411 C G snp 843.77 0/1 99 72 32 40 0.56 exonic rs57285449 IFITM5 AD nonsynonymous SNV NM_001025295 exon1 c.G80C p.G27A 0.592652 0.6429 0.388072 0.5327 0.6971 0.58 T 0.046 P -0.904 T 0.006 T 0.013 T Pathogenic 11_308065_T->C 11 308065 308065 T C snp 911.77 1/1 69 25 0 25 1.0 upstream rs9704108 IFITM2 AU 0.972843 1 Uncertain 11_308178_T->C 11 308178 308178 T C snp 4879.77 1/1 99 182 0 182 1.0 UTR5 rs1058873 IFITM2 AU 0.473642 0.6935 0.275057 0.3571 0.6874 Uncertain 11_308180_A->G 11 308180 308180 A G snp 1822.77 0/1 99 186 107 79 0.42 UTR5 rs10398 IFITM2 AU 0.396366 0.626 0.223204 0.2835 0.6234 Uncertain 11_308290_T->C 11 308290 308290 T C snp 4949.77 1/1 99 182 0 182 1.0 exonic rs1058900 IFITM2 AU nonsynonymous SNV NM_006435 exon1 c.T98C p.V33A 0.864417 0.997 0.693082 0.6990 0.9991 1 T 0.0 P -0.987 T 0.0 T 0.001 T Pathogenic 11_308314_T->C 11 308314 308314 T C snp 4167.77 1/1 99 147 0 147 1.0 exonic rs14408 IFITM2 AU nonsynonymous SNV NM_006435 exon1 c.T122C p.M41T 0.705072 0.9593 0.453645 0.5192 0.9655 1 T 0.0 P -0.925 T 0.0 T 0.0 T Pathogenic 11_308363_G->C 11 308363 308363 G C snp 3744.77 1/1 99 126 0 126 1.0 exonic rs1058935 IFITM2 AU synonymous SNV NM_006435 exon1 c.G171C p.V57V 0.841853 0.997 0.639759 0.6567 0.9988 Uncertain 11_308426_G->C 11 308426 308426 G C snp 3005.77 1/1 99 106 0 106 1.0 exonic rs1058964 IFITM2 AU synonymous SNV NM_006435 exon1 c.G234C p.A78A 0.836262 0.997 0.632237 0.6508 0.9988 1.000 P -1.022 T Likely benign 11_308576_G->A 11 308576 308576 G A snp 513.77 0/1 99 59 40 19 0.32 intronic rs909097 IFITM2 AU NM_006435 exon1 c.246+138G>A 0.0634984 0.0337 Uncertain 11_308716_C->T 11 308716 308716 C T snp 997.77 0/1 99 156 99 57 0.37 intronic rs909098 IFITM2 AU NM_006435 exon1 c.246+278C>T 0.0511182 0.0337 0.1005 0.0274 Uncertain 11_309127_A->G 11 309127 309127 A G snp 4539.77 1/1 99 137 0 137 1.0 exonic rs1059091 IFITM2 AU nonsynonymous SNV NM_006435 exon2 c.A361G p.I121V 0.540535 0.6944 0.400849 0.4185 0.6877 0 D 0.0 P -0.947 T 0.0 T 0.002 T Pathogenic 11_314207_C->G 11 314207 314207 C G snp 7500.77 1/1 99 250 0 250 1.0 exonic rs9667990 IFITM1 AU nonsynonymous SNV NM_003641 exon1 c.C37G p.P13A 1 1 1 1 1 T 0.0 P -0.966 T 0.0 T 0.0 T Pathogenic 11_314473_C->G 11 314473 314473 C G snp 40.77 0/1 69 21 18 3 0.14 intronic rs574016821 IFITM1 AU NM_003641 exon1 c.186+117C>G 0.0670927 0.0317 Uncertain 11_320166_T->C 11 320166 320166 T C snp 366.77 1/1 33 24 0 24 1.0 intronic rs28655829 IFITM3 AU NM_021034 exon1 c.153+176T>C 0.941893 0.9683 0.7341 0.9412 Uncertain 11_320237_C->G 11 320237 320237 C G snp 1721.77 1/1 99 97 2 95 0.98 intronic rs28688930 IFITM3 AU NM_021034 exon1 c.153+247C>G 0.9247 0.9620 Uncertain 11_320394_C->T 11 320394 320394 C T snp 996.77 0/1 99 58 16 42 0.72 intronic rs6421983 IFITM3 AU NM_021034 exon2 c.727-170C>T 0.164936 0.003 Uncertain 11_371961_A->T 11 371961 371961 A T snp 50.74 1/1 6 2 0 2 1.0 intronic rs35842721 B4GALNT4 AU NM_178537 exon2 c.2305-147A>T 0.376797 0.3899 Uncertain 11_372157_C->T 11 372157 372157 C T snp 4215.77 1/1 99 143 0 143 1.0 exonic rs34063493 B4GALNT4 AU nonsynonymous SNV NM_178537 exon2 c.C200T p.A67V 0.375599 0.3859 0.334134 0.3272 0.3925 1 T 0.0 P -0.918 T 0.002 T 0.001 T Pathogenic 11_372700_G->C 11 372700 372700 G C snp 2164.77 1/1 99 84 0 84 1.0 exonic rs35475866 B4GALNT4 AU synonymous SNV NM_178537 exon3 c.G294C p.G98G 0.330671 0.3839 0.294095 0.3046 0.4221 Uncertain 11_373404_G->A 11 373404 373404 G A snp 1189.77 1/1 93 42 0 42 1.0 intronic rs7396812 B4GALNT4 AU NM_178537 exon7 c.3645-44G>A 0.403754 0.4077 0.3343 0.4499 Uncertain 11_373419_-->CCGCCA 11 373419 373419 - CCGCCA indel 2612.73 1/1 99 48 3 45 0.94 intronic B4GALNT4 AU NM_178537 exon7 c.3645-29insCCGCCA 0.265774 Uncertain 11_373427_C->T 11 373427 373427 C T snp 1782.77 1/1 99 57 3 54 0.95 intronic rs7395781 B4GALNT4 AU NM_178537 exon7 c.3645-21C>T 0.40016 0.3988 0.1308 0.2087 Uncertain 11_373810_G->A 11 373810 373810 G A snp 2892.77 0/1 99 226 101 125 0.55 exonic rs147407526 B4GALNT4 AU synonymous SNV NM_178537 exon8 c.G765A p.S255S 0.00559105 0.0268 0.000154 0.0017 0.0222 Uncertain 11_379598_A->G 11 379598 379598 A G snp 1398.77 0/1 99 142 75 67 0.47 exonic rs1134699 B4GALNT4 AU synonymous SNV NM_178537 exon15 c.A2385G p.E795E 0.498602 0.4911 0.420427 0.4464 0.4900 Uncertain 11_380774_-->C 11 380774 380774 - C indel 3122.73 0/1 99 214 114 100 0.47 intronic rs35355019 B4GALNT4 AU NM_178537 exon19 c.11021-50insC 0.409026 0.3539 0.5045 Uncertain 11_381560_C->T 11 381560 381560 C T snp 71.77 0/1 99 8 4 4 0.5 intronic rs55737232 B4GALNT4 AU NM_178537 exon20 c.11865-108C>T Uncertain 11_392953_A->G 11 392953 392953 A G snp 129.03 1/1 12 4 0 4 1.0 intronic rs12788610 PKP3 AU NM_001303029 exon1 c.81+245A>G 0.898762 0.998 Uncertain 11_396546_G->A 11 396546 396546 G A snp 113.77 0/1 97 7 3 4 0.57 intronic rs7105848 PKP3 AU NM_001303029 exon3 c.3980-61G>A 0.422724 0.5655 Uncertain 11_396701_C->T 11 396701 396701 C T snp 1018.77 0/1 99 90 48 42 0.47 intronic rs11246147 PKP3 AU NM_001303029 exon3 c.4060+14C>T 0.446885 0.4325 0.478900 0.5221 0.4328 Uncertain 11_396915_C->T 11 396915 396915 C T snp 872.77 0/1 99 71 33 38 0.54 exonic rs12419281 PKP3 AU synonymous SNV NM_007183 exon3 c.C414T p.N138N 0.446885 0.4296 0.477007 0.5476 0.4580 Uncertain 11_397526_C->T 11 397526 397526 C T snp 2698.77 0/1 99 250 130 120 0.48 intronic rs753721360 PKP3 AU NM_001303029 exon5 c.4911-12C>T 1.68e-05 0 Uncertain 11_397706_T->C 11 397706 397706 T C snp 1540.77 1/1 99 50 0 50 1.0 intronic rs9795298 PKP3 AU NM_001303029 exon5 c.5035+44T>C 0.896765 0.998 0.790014 0.7825 0.9995 Uncertain 11_397732_T->G 11 397732 397732 T G snp 842.77 1/1 63 23 0 23 1.0 intronic rs9795299 PKP3 AU NM_001303029 exon5 c.5035+70T>G 0.896965 0.998 Uncertain 11_400109_A->G 11 400109 400109 A G snp 555.77 1/1 42 22 0 22 1.0 exonic rs8858 PKP3 AU synonymous SNV NM_007183 exon6 c.A1416G p.A472A 0.897364 0.998 0.795709 0.7928 0.9997 Uncertain 11_403046_C->T 11 403046 403046 C T snp 247.77 0/1 99 22 12 10 0.45 intronic rs76360685 PKP3 AU NM_001303029 exon10 c.10450-31C>T 0.455072 0.3571 0.582665 0.0198 0 Uncertain 11_403545_C->T 11 403545 403545 C T snp 332.77 0/1 99 27 15 12 0.44 intronic rs35828848 PKP3 AU NM_001303029 exon11 c.10990-72C>T 0.415136 0.6419 Uncertain 11_403880_G->C 11 403880 403880 G C snp 1519.77 0/1 99 126 70 56 0.44 intronic rs10794318 PKP3 AU NM_001303029 exon12 c.11315-62G>C 0.360823 0.5813 Uncertain 11_403939_A->G 11 403939 403939 A G snp 2899.77 1/1 99 89 0 89 1.0 splicing rs7479832 PKP3 AU NM_001303029 exon12 c.11315-3A>G 0.926917 0.998 0.823689 0.8396 0.9998 Pathogenic 11_403980_G->A 11 403980 403980 G A snp 1656.77 0/1 99 124 62 62 0.5 exonic rs11748 PKP3 AU synonymous SNV NM_007183 exon11 c.G2115A p.P705P 0.510982 0.3651 0.552440 0.5612 0.3718 Uncertain 11_404317_C->T 11 404317 404317 C T snp 1269.77 0/1 99 126 68 58 0.46 exonic rs1134578 PKP3 AU synonymous SNV NM_007183 exon12 c.C2352T p.F784F 0.451478 0.3542 0.494215 0.5364 0.3576 1.0 P -0.887 T Likely benign 11_404468_G->A 11 404468 404468 G A snp 1253.77 0/1 99 107 54 53 0.5 intronic rs11246148 PKP3 AU NM_001303029 exon14 c.11906-65G>A 0.360823 0.5823 0.213533 0.2394 0.5836 Uncertain 11_406043_G->A 11 406043 406043 G A snp 2462.77 1/1 99 91 0 91 1.0 exonic rs7947 SIGIRR AU synonymous SNV NM_021805 exon10 c.C1086T p.V362V 0.906749 0.998 0.804035 0.8387 0.9996 0.9 T 0.001 P -0.984 T 0.022 T 0.015 T Likely benign 11_406473_A->C 11 406473 406473 A C snp 3761.77 1/1 99 146 0 146 1.0 exonic rs3087588 SIGIRR AU synonymous SNV NM_021805 exon9 c.T945G p.P315P 0.907149 0.998 0.805329 0.8314 0.9999 0.000 P -1.031 T Likely benign 11_406483_T->C 11 406483 406483 T C snp 3847.77 1/1 99 145 0 145 1.0 exonic rs3210908 SIGIRR AU nonsynonymous SNV NM_021805 exon9 c.A935G p.Q312R 0.927117 0.998 0.824503 0.8362 0.9999 0.88 T 0.0 P -1.029 T 0.0 T 0.001 T Pathogenic 11_406615_C->T 11 406615 406615 C T snp 338.77 0/1 99 18 6 12 0.67 intronic rs10902159 SIGIRR AU NM_021805 exon2 c.643+77C>T 0.360423 0.6032 Uncertain 11_407708_A->C 11 407708 407708 A C snp 503.77 1/1 39 14 0 14 1.0 intronic rs6421977 SIGIRR AU NM_021805 exon6 c.1921-108A>C 0.926717 0.998 Uncertain 11_409385_C->G 11 409385 409385 C G snp 707.77 1/1 54 19 0 19 1.0 intronic rs6421976 SIGIRR AU NM_021805 exon9 c.3972-482C>G 0.926717 0.998 Uncertain 11_409720_T->G 11 409720 409720 T G snp 3716.77 1/1 99 131 0 131 1.0 intronic rs6598024 SIGIRR AU NM_021805 exon9 c.3972-147T>G 0.926717 0.998 Uncertain 11_409815_G->A 11 409815 409815 G A snp 1952.77 0/1 99 181 91 90 0.5 intronic rs4074794 SIGIRR AU NM_021805 exon9 c.3972-52G>A 0.342053 0.5843 0.190977 Uncertain 11_428385_A->G 11 428385 428385 A G snp 2076.77 1/1 99 73 0 73 1.0 exonic rs10794323 ANO9 AU nonsynonymous SNV NM_001012302 exon14 c.T1195C p.C399R 0.921725 0.996 0.849076 0.8355 0.9995 0.68 T 0.0 P -0.982 T 0.0 T 0.002 T Pathogenic 11_428489_T->C 11 428489 428489 T C snp 4892.77 1/1 99 180 0 180 1.0 exonic rs10794324 ANO9 AU nonsynonymous SNV NM_001012302 exon13 c.A1171G p.I391V 0.91893 0.997 0.831818 0.8208 0.9995 0.26 T 0.0 P -0.964 T 0.0 T 0.002 T Pathogenic 11_429659_C->T 11 429659 429659 C T snp 2607.77 0/1 99 244 131 113 0.46 intronic rs7111432 ANO9 AU NM_001012302 exon13 c.11282+7C>T 0.517772 0.37 0.591890 0.5625 0.3687 Uncertain 11_430432_-->T 11 430432 430432 - T indel 637.73 0/1 99 28 9 19 0.68 intronic ANO9 AU NM_001012302 exon16 c.12033+29insT Uncertain 11_430456_A->G 11 430456 430456 A G snp 90.77 0/1 99 14 10 4 0.29 intronic rs11603743 ANO9 AU NM_001012302 exon16 c.12033+53A>G 0.569688 0.377 Uncertain 11_431557_G->T 11 431557 431557 G T snp 50.74 1/1 6 2 0 2 1.0 intronic rs183189665 ANO9 AU NM_001012302 exon17 c.13323-136G>T Uncertain 11_431560_T->C 11 431560 431560 T C snp 96.28 1/1 9 3 0 3 1.0 intronic rs187866555 ANO9 AU NM_001012302 exon17 c.13323-133T>C Uncertain 11_431577_T->A 11 431577 431577 T A snp 176.9 1/1 15 5 0 5 1.0 intronic rs112909848 ANO9 AU NM_001012302 exon17 c.13323-116T>A Uncertain 11_431597_T->G 11 431597 431597 T G snp 309.78 1/1 24 8 0 8 1.0 intronic rs192384158 ANO9 AU NM_001012302 exon17 c.13323-96T>G 0.844848 0.9097 Uncertain 11_431600_C->T 11 431600 431600 C T snp 301.78 1/1 24 8 0 8 1.0 intronic rs184719181 ANO9 AU NM_001012302 exon17 c.13323-93C>T 0.844848 0.9097 Uncertain 11_431622_C->T 11 431622 431622 C T snp 466.77 1/1 36 19 0 19 1.0 intronic rs112862125 ANO9 AU NM_001012302 exon17 c.13323-71C>T 0.919928 0.994 Uncertain 11_431834_A->G 11 431834 431834 A G snp 3680.77 1/1 99 132 0 132 1.0 intronic rs55914928 ANO9 AU NM_001012302 exon18 c.13477-13A>G 0.924321 0.996 0.854362 0.8451 0.9994 Uncertain 11_433387_A->G 11 433387 433387 A G snp 4972.77 1/1 99 191 0 191 1.0 exonic rs7395065 ANO9 AU nonsynonymous SNV NM_001012302 exon4 c.T277C p.F93L 1 1 1.0000 0.9995 1 T 0.000 P -0.926 T 0.0 T 0.0 T Pathogenic 11_433532_C->G 11 433532 433532 C G snp 251.77 0/1 99 26 17 9 0.35 intronic rs7395790 ANO9 AU NM_001012302 exon20 c.15089+73C>G 0.366014 0.6438 Uncertain 11_433867_G->A 11 433867 433867 G A snp 1802.77 0/1 99 152 75 77 0.51 exonic rs12575508 ANO9 AU nonsynonymous SNV NM_001012302 exon3 c.C152T p.A51V 0.198682 0.1766 0.204503 0.2633 0.2872 0.17 T 0.0 P -1.108 T 0.003 T 0.001 T Pathogenic 11_433965_G->A 11 433965 433965 G A snp 1144.77 0/1 99 80 35 45 0.56 intronic rs7396778 ANO9 AU NM_001012302 exon21 c.15567+28G>A 0.196885 0.1756 0.203519 0.2308 0.2694 Uncertain 11_433995_G->A 11 433995 433995 G A snp 852.77 0/1 99 62 29 33 0.53 intronic rs7396776 ANO9 AU NM_001012302 exon22 c.15653-28G>A 0.534944 0.3621 0.628746 0.6315 0.4382 Uncertain 11_441806_C->A 11 441806 441806 C A snp 281.77 0/1 99 24 9 15 0.63 intronic rs10794325 ANO9 AU NM_001012302 exon23 c.23550-114C>A 0.660743 0.8155 Uncertain 11_460303_T->C 11 460303 460303 T C snp 882.77 0/1 99 53 20 33 0.62 intronic rs11821341 PTDSS2 AU NM_030783 exon2 c.9833+15T>C 0.332468 0.1835 0.380517 0.3235 0.1939 Uncertain 11_474033_C->T 11 474033 474033 C T snp 1457.77 0/1 99 112 54 58 0.52 intronic rs72851118 PTDSS2 AU NM_030783 exon3 c.23522+56C>T 0.216054 0.1815 0.225361 Uncertain 11_486826_C->T 11 486826 486826 C T snp 92.77 0/1 99 21 15 6 0.29 intronic rs55653405 PTDSS2 AU NM_030783 exon5 c.36483-112C>T 0.321885 0.1835 Uncertain 11_486835_G->A 11 486835 486835 G A snp 97.77 0/1 99 21 15 6 0.29 intronic rs55976759 PTDSS2 AU NM_030783 exon5 c.36483-103G>A 0.321885 0.1835 Uncertain 11_486843_A->G 11 486843 486843 A G snp 89.77 0/1 99 25 19 6 0.24 intronic rs56352613 PTDSS2 AU NM_030783 exon5 c.36483-95A>G 0.321885 0.1835 Uncertain 11_486855_T->A 11 486855 486855 T A snp 136.77 0/1 99 31 24 7 0.23 intronic rs55961417 PTDSS2 AU NM_030783 exon5 c.36483-83T>A 0.199681 0.0784 Uncertain 11_486874_T->C 11 486874 486874 T C snp 370.77 0/1 99 53 36 17 0.32 intronic rs55830538 PTDSS2 AU NM_030783 exon5 c.36483-64T>C 0.216853 0.1815 Uncertain 11_488135_G->A 11 488135 488135 G A snp 660.77 0/1 99 59 32 27 0.46 intronic rs11820122 PTDSS2 AU NM_030783 exon7 c.37743-63G>A 0.255391 0.1815 Uncertain 11_488140_C->T 11 488140 488140 C T snp 685.77 0/1 99 64 34 30 0.47 intronic rs11821959 PTDSS2 AU NM_030783 exon7 c.37743-58C>T 0.22504 0.1815 Uncertain 11_488389_C->A 11 488389 488389 C A snp 634.77 0/1 99 45 22 23 0.51 intronic rs11822000 PTDSS2 AU NM_030783 exon7 c.37857+77C>A 0.21865 0.1815 Uncertain 11_489386_T->C 11 489386 489386 T C snp 1423.77 0/1 99 121 58 63 0.52 intronic rs67492572 PTDSS2 AU NM_030783 exon9 c.38944-13T>C 0.222045 0.1815 0.227811 0.1934 0.1882 Uncertain 11_489829_C->A 11 489829 489829 C A snp 882.77 0/1 99 57 26 31 0.54 intronic rs56005321 PTDSS2 AU NM_030783 exon11 c.39427-53C>A 0.220048 0.1815 Uncertain 11_494942_G->C 11 494942 494942 G C snp 1287.77 0/1 99 98 42 56 0.57 exonic rs7983 RNH1 AU synonymous SNV NM_203384 exon9 c.C1239G p.A413A 0.332867 0.1865 0.375654 0.3270 0.1971 Uncertain 11_495103_A->G 11 495103 495103 A G snp 260.77 0/1 99 19 9 10 0.53 intronic rs11246165 RNH1 AU NM_203383 exon2 c.363+50A>G 0.417732 0.3373 0.392194 0.3501 0.3493 Uncertain 11_498383_C->T 11 498383 498383 C T snp 398.77 0/1 99 33 19 14 0.42 intronic rs11825121 RNH1 AU NM_203383 exon4 c.3766-73C>T 0.216454 0.1825 Uncertain 11_499059_C->T 11 499059 499059 C T snp 2390.77 0/1 99 175 76 99 0.57 exonic rs17584 RNH1 AU synonymous SNV NM_203384 exon5 c.G570A p.L190L 0.222045 0.1776 0.228622 0.1899 0.1777 Uncertain 11_499547_A->C 11 499547 499547 A C snp 1324.77 0/1 99 129 66 63 0.49 intronic rs61876345 RNH1 AU NM_203383 exon7 c.5138-281A>C 0.261981 0.1815 0.3004 0.1689 0.02 T 0.0 P -1.014 T Uncertain 11_499583_G->A 11 499583 499583 G A snp 1253.77 0/1 99 111 60 51 0.46 intronic rs61876346 RNH1 AU NM_203383 exon7 c.5138-245G>A 0.249201 0.1815 0.2646 0.1882 0.64 T 0.0 P -0.973 T Uncertain 11_500056_G->A 11 500056 500056 G A snp 201.77 0/1 99 19 8 11 0.58 intronic rs12417451 RNH1 AU NM_203383 exon7 c.5309+57G>A 0.221446 0.1935 Uncertain 11_502013_G->A 11 502013 502013 G A snp 570.77 0/1 99 40 18 22 0.55 intronic rs7930593 RNH1 AU NM_203383 exon9 c.7371-48G>A 0.308706 0.1855 0.359026 0.3296 0.1873 Uncertain 11_502217_C->T 11 502217 502217 C T snp 900.77 0/1 99 70 31 39 0.56 UTR5 rs7944548 RNH1 AU 0.290735 0.1835 Uncertain 11_534242_A->G 11 534242 534242 A G snp 2117.77 0/1 99 186 89 97 0.52 exonic rs12628 HRAS AU,AD,AO synonymous SNV NM_005343 exon2 c.T81C p.H27H 0.297125 0.1726 0.354529 0.3135 0.1893 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|Rasopathy;CLNREVSTAT=criteria_provided\x2c_multiple_submitters\x2c_no_conflicts|no_assertion_criteria_provided;CLNACC=RCV000038468.5|RCV000149841.1;CLNDSDB=MedGen|MedGen;CLNDSDBID=CN169374|CN166718 ID=COSM249860;OCCURENCE=1(large_intestine),25(urinary_tract),1(skin),1(thyroid) ID=CM035804;DIS=Bladder cancer, association with;TAG=DP;PUB=12540507 DP Uncertain 11_540584_G->A 11 540584 540584 G A snp 327.77 0/1 99 23 13 10 0.43 intronic rs11246178 LRRC56 AU 0.130192 0.12 Uncertain 11_540604_A->C 11 540604 540604 A C snp 453.77 0/1 99 35 17 18 0.51 intronic rs79948463 LRRC56 AU 0.107228 0.12 Uncertain 11_544827_C->T 11 544827 544827 C T snp 644.77 0/1 99 65 31 34 0.52 intronic rs76537666 LRRC56 AU NM_198075 exon6 c.4096+47C>T 0.106629 0.121 0.088593 0.1146 0.1229 Uncertain 11_549959_C->T 11 549959 549959 C T snp 4519.77 1/1 99 165 0 165 1.0 exonic rs7942030 LRRC56 AU synonymous SNV NM_198075 exon7 c.C384T p.L128L 0.78115 0.9196 0.764226 0.8120 0.9150 Uncertain 11_550028_C->G 11 550028 550028 C G snp 5922.77 1/1 99 217 0 217 1.0 intronic rs11246180 LRRC56 AU NM_198075 exon7 c.9314+30C>G 0.852037 0.9206 0.857275 0.8767 0.9159 Uncertain 11_551405_G->A 11 551405 551405 G A snp 3151.77 1/1 99 111 0 111 1.0 intronic rs7396875 LRRC56 AU NM_198075 exon9 c.10618+103G>A 0.847244 0.9206 Uncertain 11_551644_C->T 11 551644 551644 C T snp 2030.77 0/1 99 173 90 83 0.48 intronic rs113026126 LRRC56 AU NM_198075 exon10 c.10966-6C>T 0.0553115 0.0476 0.062269 0.0557 0.0363 Uncertain 11_551753_G->A 11 551753 551753 G A snp 7110.77 1/1 99 250 0 250 1.0 exonic rs4963198 LRRC56 AU nonsynonymous SNV NM_198075 exon10 c.G899A p.R300H 0.647364 0.873 0.576047 0.6563 0.8572 0.53 T 0.0 P -1.065 T 0.0 T 0.0 T Pathogenic 11_552547_T->C 11 552547 552547 T C snp 182.77 0/1 99 23 15 8 0.35 intronic rs3740652 LRRC56 AU NM_198075 exon13 c.11884-21T>C 0.893171 0.9524 0.883346 0.9351 0.9679 Uncertain 11_552756_T->C 11 552756 552756 T C snp 1433.77 1/1 99 53 0 53 1.0 intronic rs12361381 LRRC56 AU NM_198075 exon13 c.12018+54T>C 0.883586 0.9177 Uncertain 11_552787_T->C 11 552787 552787 T C snp 1029.77 1/1 75 37 0 37 1.0 intronic rs12361383 LRRC56 AU NM_198075 exon13 c.12018+85T>C 0.883786 0.9177 Uncertain 11_552788_G->C 11 552788 552788 G C snp 379.77 0/1 99 35 18 17 0.49 intronic rs11246182 LRRC56 AU NM_198075 exon13 c.12018+86G>C 0.624401 0.8254 Uncertain 11_552875_A->G 11 552875 552875 A G snp 307.78 1/1 24 10 0 10 1.0 intronic rs28575794 LRRC56 AU NM_198075 exon13 c.12018+173A>G 0.990016 1 Uncertain 11_553866_G->A 11 553866 553866 G A snp 357.77 0/1 99 19 7 12 0.63 intronic rs12792519 LRRC56 AU NM_198075 exon14 c.13278-96G>A 0.631789 0.8264 Uncertain 11_554018_G->A 11 554018 554018 G A snp 1590.77 0/1 99 130 59 71 0.55 exonic rs112033363 LRRC56 AU synonymous SNV NM_198075 exon14 c.G1371A p.R457R 0.0549121 0.0466 0.061827 0.0544 0.0353 Uncertain 11_554166_C->G 11 554166 554166 C G snp 616.77 0/1 99 68 38 30 0.44 exonic rs10902170 LRRC56 AU nonsynonymous SNV NM_198075 exon14 c.C1519G p.R507G 0.79393 0.874 0.787683 0.8169 0.8787 1 T 0.0 P -1.010 T 0.0 T 0.0 T Pathogenic 11_554214_G->C 11 554214 554214 G C snp 782.77 0/1 99 80 41 39 0.49 exonic rs10902171 LRRC56 AU nonsynonymous SNV NM_198075 exon14 c.G1567C p.D523H 0.791534 0.873 0.784780 0.8171 0.8787 0.16 T 0.0 P -1.097 T 0.983 D 0.615 D Pathogenic 11_554299_C->G 11 554299 554299 C G snp 2120.77 1/1 99 74 0 74 1.0 UTR3 rs10902172 LRRC56 AU 0.881989 0.9206 0.890105 0.9185 0.9132 Uncertain 11_554968_A->G 11 554968 554968 A G snp 648.77 0/1 99 44 15 29 0.66 UTR3 rs12280283 LMNTD2 AU 0.0914537 0.0942 0.066868 0.1621 0.1548 Uncertain 11_555208_G->A 11 555208 555208 G A snp 158.77 0/1 99 8 3 5 0.63 intronic rs559302850 LMNTD2 AU NM_173573 exon2 c.325-96G>A 0.00499201 0.0228 Uncertain 11_555224_C->- 11 555224 555224 C - indel 553.73 1/1 39 13 0 13 1.0 intronic rs55731724 LMNTD2 AU NM_173573 exon2 c.325-80delC 0.9998 1 Uncertain 11_556121_G->A 11 556121 556121 G A snp 609.77 1/1 45 23 0 23 1.0 splicing rs936467 LMNTD2 AU NM_173573 exon4 c.1136+6G>A 0.946885 1 0.960177 0.9890 1 Pathogenic 11_556457_T->C 11 556457 556457 T C snp 3157.77 1/1 99 102 0 102 1.0 intronic rs28407128 LMNTD2 AU NM_173573 exon6 c.1512-34T>C 0.872404 0.9058 0.895031 0.8919 0.9461 Uncertain 11_556521_C->G 11 556521 556521 C G snp 3570.77 1/1 99 131 0 131 1.0 exonic rs28406183 LMNTD2 AU synonymous SNV NM_173573 exon9 c.G1044C p.P348P 0.846046 0.9067 0.862328 0.8959 0.9189 Uncertain 11_556599_C->T 11 556599 556599 C T snp 1687.77 0/1 99 181 100 81 0.45 intronic rs117506874 LMNTD2 AU NM_173573 exon6 c.1609+11C>T 0.0549121 0.0466 0.058805 0.0846 0.0530 Uncertain 11_556857_G->C 11 556857 556857 G C snp 2239.77 1/1 99 80 0 80 1.0 exonic rs7938269 LMNTD2 AU synonymous SNV NM_173573 exon8 c.C954G p.G318G 0.878195 0.9067 0.895662 0.9237 0.9093 Uncertain 11_557342_T->C 11 557342 557342 T C snp 2352.77 1/1 99 85 0 85 1.0 intronic rs936466 LMNTD2 AU NM_173573 exon8 c.2419-56T>C 0.878994 0.9067 0.896846 Uncertain 11_557540_A->G 11 557540 557540 A G snp 1448.77 0/1 99 108 47 61 0.56 intronic rs11825368 LMNTD2 AU NM_173573 exon9 c.2592-31A>G 0.0938498 0.0476 0.104045 0.0696 0.0361 Uncertain 11_557584_G->A 11 557584 557584 G A snp 1318.77 0/1 99 113 56 57 0.5 exonic rs11822657 LMNTD2 AU synonymous SNV NM_173573 exon6 c.C612T p.A204A 0.0543131 0.0466 0.062135 0.0533 0.0358 Uncertain 11_557989_C->T 11 557989 557989 C T snp 1108.77 0/1 99 106 56 50 0.47 exonic rs7129811 LMNTD2 AU synonymous SNV NM_173573 exon5 c.G450A p.Q150Q 0.471845 0.6696 0.444000 0.5546 0.6731 Uncertain 11_558884_C->T 11 558884 558884 C T snp 1582.77 0/1 99 126 56 70 0.56 exonic rs2061586 LMNTD2 AU nonsynonymous SNV NM_173573 exon2 c.G130A p.A44T 0.758187 0.8591 0.748923 0.8094 0.8653 1 T 0.0 P -0.951 T 0.0 T 0.0 T Pathogenic 11_559016_C->T 11 559016 559016 C T snp 1819.77 0/1 99 194 104 90 0.46 intronic rs3943356 LMNTD2 AU NM_173573 exon13 c.4000+37C>T 0.758187 0.8591 0.748846 0.8112 0.8653 0.000 P -1.054 T Uncertain 11_559089_C->T 11 559089 559089 C T snp 1272.77 0/1 99 89 39 50 0.56 intronic rs35632051 LMNTD2 AU NM_173573 exon13 c.4000+110C>T 0.0587061 0.0466 0.0662 0.0418 Uncertain 11_559299_TT->- 11 559299 559300 TT - indel 2906.73 0/1 99 136 70 66 0.49 intronic rs112162682 LMNTD2 AU NM_173573 exon13 c.4000+320_4000+321delTT 0.0587061 0.0466 0.0624 0.0517 Uncertain 11_560546_G->A 11 560546 560546 G A snp 296.77 0/1 99 32 19 13 0.41 intronic rs11827168 LMNTD2 AU NM_173573 exon14 c.5703-136G>A 0.0551118 0.0476 Uncertain 11_560801_-->G 11 560801 560801 - G indel 141.73 0/1 99 16 5 11 0.69 upstream rs573337720 LMNTD2 AU 0.438698 0.5903 Uncertain 11_562219_C->G 11 562219 562219 C G snp 2037.77 0/1 99 181 93 88 0.49 exonic rs2242183 RASSF7 AU nonsynonymous SNV NM_001143993 exon3 c.C265G p.P89A 0.107228 0.3016 0.040674 0.0858 0.2968 0.28 T 1.000 P -1.057 T 1.0 D 0.998 D Pathogenic 11_568211_G->A 11 568211 568211 G A snp 74.77 0/1 99 11 6 5 0.45 ncRNA_intronic rs7395206 MIR210HG AU 0.482827 0.6796 0.509622 0.6402 0.6477 Uncertain 11_587425_C->A 11 587425 587425 C A snp 880.77 0/1 99 47 8 39 0.83 exonic rs12800061 PHRF1 AU synonymous SNV NM_001286581 exon4 c.C381A p.A127A 0.164137 0.0198 0.243978 0.1924 0.0271 Uncertain 11_598481_G->T 11 598481 598481 G T snp 2012.77 0/1 99 201 111 90 0.45 exonic rs182144037 PHRF1 AU nonsynonymous SNV NM_001286581 exon9 c.G1003T p.A335S 0.00319489 0.001996 0.0038 0 0.33 T 1 N -1.000 T 0.052 T 0.066 T ID=COSM4145934,COSM4145933;OCCURENCE=1(thyroid) Pathogenic 11_598723_A->C 11 598723 598723 A C snp 119.78 0/1 27 5 1 4 0.8 intronic rs36060383 PHRF1 AU NM_020901 exon9 c.16990+221A>C 0.188498 0.0198 Uncertain 11_601785_T->C 11 601785 601785 T C snp 206.77 0/1 99 14 7 7 0.5 intronic rs2396545 PHRF1 AU NM_020901 exon10 c.20189+84T>C 0.235423 0.0198 Uncertain 11_606656_G->C 11 606656 606656 G C snp 1627.77 1/1 99 61 1 60 0.98 intronic rs936470 PHRF1 AU NM_020901 exon13 c.25084+60G>C 0.813898 0.749 Uncertain 11_606749_G->A 11 606749 606749 G A snp 153.77 0/1 99 9 4 5 0.56 intronic rs936469 PHRF1 AU NM_020901 exon13 c.25084+153G>A 0.1877 0.0198 Uncertain 11_609068_G->A 11 609068 609068 G A snp 1344.77 0/1 99 98 44 54 0.55 exonic rs7928902 PHRF1 AU synonymous SNV NM_001286581 exon14 c.G3612A p.A1204A 0.1877 0.0198 0.258629 0.2390 0.0404 Uncertain 11_609353_G->A 11 609353 609353 G A snp 4170.77 0/1 99 250 107 143 0.57 exonic rs11539530 PHRF1 AU synonymous SNV NM_001286581 exon14 c.G3897A p.P1299P 0.186901 0.0198 0.264619 0.1985 0.0269 Uncertain 11_610277_T->C 11 610277 610277 T C snp 4509.77 1/1 99 151 0 151 1.0 exonic rs11246212 PHRF1 AU nonsynonymous SNV NM_001286581 exon15 c.T4346C p.V1449A 0.803714 0.7679 0.863371 0.8529 0.7815 1 T 0.0 P -0.995 T 0.0 T 0.0 T Pathogenic 11_611503_G->A 11 611503 611503 G A snp 653.77 0/1 99 54 32 22 0.41 intronic rs7941547 PHRF1 AU NM_020901 exon18 c.30121-130G>A 0.273363 0.0208 Uncertain 11_611531_G->A 11 611531 611531 G A snp 945.77 0/1 99 89 53 36 0.4 intronic rs12419618 PHRF1 AU NM_020901 exon18 c.30121-102G>A 0.1875 0.0198 Uncertain 11_611868_C->T 11 611868 611868 C T snp 158.84 0/1 18 6 1 5 0.83 UTR3 rs702965 PHRF1 AU 0.20627 0.0198 Uncertain 11_612843_T->G 11 612843 612843 T G snp 523.77 0/1 99 32 14 18 0.56 intronic rs10902178 IRF7 AR NM_004031 exon1 c.156+43T>G 0.275559 0.0208 0.370866 0.2555 0.0274 Uncertain 11_612967_A->G 11 612967 612967 A G snp 1656.77 0/1 99 136 71 65 0.48 intronic rs11246213 IRF7 AR NM_004031 exon2 c.354-31A>G 0.275958 0.0218 0.371136 0.2568 0.0277 Uncertain 11_613165_G->C 11 613165 613165 G C snp 2242.77 0/1 99 238 139 99 0.42 intronic rs1051390 IRF7 AR NM_004031 exon3 c.561-40G>C 0.275559 0.0208 0.367416 0.2547 0.0278 Uncertain 11_613192_A->G 11 613192 613192 A G snp 2068.77 0/1 99 223 134 89 0.4 intronic rs12422022 IRF7 AR NM_004031 exon3 c.561-13A>G 0.275559 0.0208 0.352071 0.2527 0.0274 Uncertain 11_613208_T->C 11 613208 613208 T C snp 2076.77 0/1 99 219 132 87 0.4 exonic rs1131665 IRF7 AR nonsynonymous SNV NM_004031 exon7 c.A1274G p.Q425R 0.275559 0.0208 0.361424 0.2541 0.0284 0.79 T 0.0 P -1.021 T 0.002 T 0.003 T ID=CM115655;DIS=Systemic lupus erythematosus, association with;TAG=DFP;PUB=21360504 DFP Pathogenic 11_613297_T->G 11 613297 613297 T G snp 1457.77 0/1 99 174 105 69 0.4 exonic rs1061505 IRF7 AR synonymous SNV NM_004031 exon7 c.A1185C p.G395G 0.298522 0.0466 0.344208 0.2556 0.0280 Uncertain 11_613742_G->A 11 613742 613742 G A snp 170.77 0/1 99 12 6 6 0.5 intronic rs60870990 IRF7 AR NM_004031 exon4 c.1140-42G>A 0.275759 0.0208 0.401780 0.3286 0.0382 Uncertain 11_613757_A->G 11 613757 613757 A G snp 246.77 0/1 99 20 11 9 0.45 intronic rs59115876 IRF7 AR NM_004031 exon4 c.1140-27A>G 0.275958 0.0208 0.382686 0.3657 0.0508 Uncertain 11_614318_T->C 11 614318 614318 T C snp 1192.77 0/1 99 106 54 52 0.49 exonic rs1061502 IRF7 AR nonsynonymous SNV NM_004031 exon4 c.A574G p.K192E 0.275559 0.0208 0.370305 0.2688 0.0295 1 T 0.0 P -1.031 T 0.0 T 0.001 T Pathogenic 11_614864_C->T 11 614864 614864 C T snp 7951.77 1/1 99 250 0 250 1.0 exonic rs1061501 IRF7 AR synonymous SNV NM_004031 exon2 c.G366A p.R122R 0.816693 0.749 0.869923 0.8608 0.7870 Uncertain 11_615010_G->T 11 615010 615010 G T snp 1773.77 0/1 99 147 78 69 0.47 splicing rs12290989 IRF7 AR NM_004031 exon8 c.2363+3G>T 0.276158 0.0208 0.271336 0.3131 0.0413 Pathogenic 11_615011_A->T 11 615011 615011 A T snp 1842.77 0/1 99 145 74 71 0.49 splicing rs12272434 IRF7 AR NM_004031 exon8 c.2363+4A>T 0.276358 0.0208 0.272349 0.3108 0.0411 Pathogenic 11_616970_A->T 11 616970 616970 A T snp 1813.77 1/1 99 71 0 71 1.0 UTR3 rs1610161 CDHR5 AU 1 1 1 1 0.39 T 0.0 P -1.022 T Uncertain 11_617214_A->G 11 617214 617214 A G snp 143.77 0/1 99 14 8 6 0.43 UTR3 rs35600572 CDHR5 AU 0.276158 0.0208 Uncertain 11_617221_T->G 11 617221 617221 T G snp 207.77 0/1 99 18 10 8 0.44 UTR3 rs34449380 CDHR5 AU 0.276158 0.0208 Uncertain 11_617228_G->A 11 617228 617228 G A snp 246.77 0/1 99 20 11 9 0.45 UTR3 rs112006329 CDHR5 AU 0.276158 0.0208 Uncertain 11_617378_C->T 11 617378 617378 C T snp 1194.77 0/1 99 107 54 53 0.5 exonic rs61877856 CDHR5 AU synonymous SNV NM_031264 exon14 c.G1929A p.A643A 0.277157 0.0208 0.367088 0.2556 0.0280 Uncertain 11_617420_A->G 11 617420 617420 A G snp 1155.77 0/1 99 107 58 49 0.46 exonic rs61877857 CDHR5 AU synonymous SNV NM_031264 exon14 c.T1887C p.D629D 0.276558 0.0208 0.365092 0.2498 0.0270 Uncertain 11_617519_A->G 11 617519 617519 A G snp 352.77 0/1 99 65 48 17 0.26 exonic rs34889521 CDHR5 AU synonymous SNV NM_031264 exon14 c.T1788C p.A596A 0.276158 0.0208 0.367518 0.2529 0.0274 Uncertain 11_617537_C->T 11 617537 617537 C T snp 954.77 0/1 99 52 15 37 0.71 exonic rs2740380 CDHR5 AU synonymous SNV NM_031264 exon14 c.G1770A p.P590P 0.484824 0.7044 0.446324 0.5555 0.6976 Uncertain 11_617967_C->G 11 617967 617967 C G snp 1323.77 1/1 99 44 0 44 1.0 exonic rs2740379 CDHR5 AU nonsynonymous SNV NM_031264 exon13 c.G1523C p.C508S 0.980831 1 0.978301 0.9939 1 0.91 T 0.0 P -1.011 T 0.0 T 0.0 T Pathogenic 11_618013_C->T 11 618013 618013 C T snp 1073.77 0/1 99 105 56 49 0.47 exonic rs7108757 CDHR5 AU nonsynonymous SNV NM_031264 exon13 c.G1477A p.A493T 0.170327 0.0198 0.253577 0.1971 0.0273 0.21 T 0.0 P -0.977 T 0.005 T 0.003 T Pathogenic 11_618172_A->G 11 618172 618172 A G snp 946.77 0/1 99 105 66 39 0.37 intronic rs6598008 CDHR5 AU NM_001171968 exon2 c.761+61A>G 0.49381 0.7044 Uncertain 11_618998_G->A 11 618998 618998 G A snp 2033.77 0/1 99 216 122 94 0.44 exonic rs2740375 CDHR5 AU nonsynonymous SNV NM_001171968 exon13 c.C1543T p.P515S 0.4998 0.7024 0.453630 0.5455 0.6943 0.4 T 0.0 P -0.967 T 0.093 T 0.032 T Pathogenic 11_619671_C->T 11 619671 619671 C T snp 2547.77 0/1 99 249 141 108 0.43 intronic rs1124816 CDHR5 AU NM_001171968 exon6 c.2330-9C>T 0.207468 0.0198 0.295448 0.2073 0.0272 Uncertain 11_619789_T->G 11 619789 619789 T G snp 1884.77 0/1 99 141 68 73 0.52 exonic rs2246614 CDHR5 AU nonsynonymous SNV NM_001171968 exon10 c.A1071C p.R357S 0.610024 0.7292 0.564213 0.6501 0.7198 1 T 0.0 P -0.980 T 0.0 T 0.0 T Pathogenic 11_620927_A->C 11 620927 620927 A C snp 46.74 1/1 6 2 0 2 1.0 intronic rs12360820 CDHR5 AU NM_001171968 exon9 c.3729-152A>C 0.756989 0.7321 Uncertain 11_621634_G->A 11 621634 621634 G A snp 781.77 0/1 99 90 56 34 0.38 exonic rs2740373 CDHR5 AU synonymous SNV NM_001171968 exon5 c.C435T p.P145P 0.186302 0.0188 0.228049 0.1323 0.0274 Uncertain 11_621795_G->A 11 621795 621795 G A snp 1199.77 0/1 99 104 52 52 0.5 intronic rs12801890 CDHR5 AU NM_001171968 exon12 c.4461-16G>A 0.180312 0.0208 0.263494 0.2005 0.0271 Uncertain 11_636496_A->G 11 636496 636496 A G snp 442.77 0/1 99 37 21 16 0.43 upstream rs936461 DRD4 AU,AD,AO 0.542931 0.7688 Uncertain 11_636690_G->A 11 636690 636690 G A snp 1111.77 1/1 84 33 0 33 1.0 upstream rs936462 DRD4 AU,AD,AO 0.889177 0.999 Uncertain 11_636702_G->- 11 636702 636702 G - indel 521.73 1/1 35 30 1 29 0.97 upstream rs3842250 DRD4 AU,AD,AO Uncertain 11_636784_T->C 11 636784 636784 T C snp 191.77 0/1 99 16 8 8 0.5 upstream rs1800955 DRD4 AU,AD,AO 0.405751 0.4058 ID=CR994758;DIS=Reduced transcriptional efficiency;TAG=DFP;PUB=10329380 DFP Uncertain 11_639373_GC->- 11 639373 639374 GC - indel 2088.73 1/1 93 70 5 65 0.93 intronic rs146876215 DRD4 AU,AD,AO NM_000797 exon2 c.2128-59_2128-58delGC 0.277157 0.1667 Uncertain 11_639563_CCCGCGCCCCGGCGCC->- 11 639563 639578 CCCGCGCCCCGGCGCC - indel 10711.7 0/1 99 208 101 107 0.51 intronic rs775045452 DRD4 AU,AD,AO NM_000797 exon2 c.2241+18_2241+33delCCCGCGCCCCGGCGCC 0.0004 0 Uncertain 11_640099_A->G 11 640099 640099 A G snp 43.77 0/1 64 5 2 3 0.6 exonic rs34662058 DRD4 AU,AD,AO nonsynonymous SNV NM_000797 exon3 c.A850G p.S284G 0.260982 0.0357 0.275 . 0.41 T 0.0 P -1.062 T Pathogenic 11_640119_C->T 11 640119 640119 C T snp 83.77 0/1 33 5 2 3 0.6 exonic rs762502 DRD4 AU,AD,AO synonymous SNV NM_000797 exon3 c.C870T p.C290C 0.663339 0.7808 0.9162 1 Uncertain 11_640349_G->A 11 640349 640349 G A snp 442.77 0/1 99 37 14 23 0.62 intronic rs1870723 DRD4 AU,AD,AO NM_000797 exon3 c.3002+43G>A 0.286741 0.1895 0.3866 0.2987 Uncertain 11_640369_G->C 11 640369 640369 G C snp 874.77 0/1 99 51 21 30 0.59 intronic rs7482904 DRD4 AU,AD,AO NM_000797 exon4 c.3096-31G>C 0.285144 0.2024 0.324566 0.3298 0.2894 Uncertain 11_640743_G->- 11 640743 640743 G - indel 443.73 0/1 99 24 8 16 0.67 downstream rs372134586 DRD4 AU,AD,AO Uncertain 11_640802_C->T 11 640802 640802 C T snp 114.77 0/1 58 6 2 4 0.67 downstream rs11607201 DRD4 AU,AD,AO 0.44389 0.5526 Uncertain 11_653968_T->C 11 653968 653968 T C snp 1455.77 0/1 99 133 68 65 0.49 exonic rs10615 DEAF1 AR,AD synonymous SNV NM_021008 exon11 c.A1587G p.Q529Q 0.284744 0.2202 0.264109 0.1572 0.2267 Uncertain 11_654091_G->A 11 654091 654091 G A snp 696.77 0/1 99 46 17 29 0.63 intronic rs7112962 DEAF1 AR,AD NM_021008 exon2 c.9502+40G>A 0.392772 0.5645 0.361756 0.4514 0.5676 Uncertain 11_654109_A->G 11 654109 654109 A G snp 343.77 0/1 99 38 24 14 0.37 intronic rs7109899 DEAF1 AR,AD NM_021008 exon2 c.9502+58A>G 0.383986 0.369 Uncertain 11_654147_T->G 11 654147 654147 T G snp 169.77 0/1 99 17 10 7 0.41 intronic rs7106020 DEAF1 AR,AD NM_021008 exon2 c.9502+96T>G 0.384984 0.3681 Uncertain 11_654511_G->A 11 654511 654511 G A snp 2937.77 0/1 99 249 121 128 0.51 intronic rs7951023 DEAF1 AR,AD NM_001293634 exon3 c.10065-103G>A 0.261581 0.2163 Uncertain 11_674454_G->T 11 674454 674454 G T snp 562.77 1/1 42 14 0 14 1.0 intronic rs11246258 DEAF1 AR,AD NM_021008 exon3 c.29986-81G>T 0.798722 0.9365 Uncertain 11_674458_G->A 11 674458 674458 G A snp 289.77 0/1 99 15 6 9 0.6 intronic rs6597997 DEAF1 AR,AD NM_021008 exon3 c.29986-77G>A 0.511781 0.7202 Uncertain 11_674499_G->A 11 674499 674499 G A snp 902.77 0/1 99 60 29 31 0.52 intronic rs6597996 DEAF1 AR,AD NM_021008 exon3 c.29986-36G>A 0.510982 0.7202 0.459250 0.5515 0.7175 Uncertain 11_678853_G->A 11 678853 678853 G A snp 806.77 0/1 99 47 19 28 0.6 intronic rs779092386 DEAF1 AR,AD NM_021008 exon4 c.34273+31G>A 2.482e-05 0 Uncertain 11_679915_G->A 11 679915 679915 G A snp 722.77 0/1 99 49 22 27 0.55 intronic rs28392994 DEAF1 AR,AD NM_021008 exon5 c.35267+99G>A 0.407947 0.5685 Uncertain 11_686714_G->A 11 686714 686714 G A snp 405.77 0/1 99 20 8 12 0.6 intronic rs10794330 DEAF1 AR,AD NM_021008 exon8 c.42308-143G>A 0.375799 0.5526 Uncertain 11_686798_G->A 11 686798 686798 G A snp 1121.77 0/1 99 134 81 53 0.4 intronic rs7121608 DEAF1 AR,AD NM_021008 exon8 c.42308-59G>A 0.211861 0.2192 Uncertain 11_686839_G->A 11 686839 686839 G A snp 1639.77 0/1 99 181 104 77 0.43 intronic rs7121478 DEAF1 AR,AD NM_021008 exon8 c.42308-18G>A 0.214856 0.2123 0.193603 0.1396 0.2228 Uncertain 11_687699_G->A 11 687699 687699 G A snp 180.9 1/1 15 5 0 5 1.0 intronic rs7481651 DEAF1 AR,AD NM_021008 exon9 c.43361-211G>A 0.96905 1 Uncertain 11_688091_C->T 11 688091 688091 C T snp 696.77 0/1 99 68 38 30 0.44 intronic rs12277188 DEAF1 AR,AD NM_021008 exon9 c.43508+34C>T 0.41274 0.5694 0.387538 0.4588 0.5574 Uncertain 11_688217_A->G 11 688217 688217 A G snp 350.77 0/1 99 24 10 14 0.58 intronic rs7126455 DEAF1 AR,AD NM_021008 exon10 c.43781-113A>G 0.211661 0.2133 Uncertain 11_688312_G->A 11 688312 688312 G A snp 1323.77 0/1 99 83 33 50 0.6 intronic rs7116631 DEAF1 AR,AD NM_021008 exon10 c.43781-18G>A 0.220248 0.2133 0.200677 0.1421 0.2239 Uncertain 11_691636_G->A 11 691636 691636 G A snp 2173.77 0/1 99 209 110 99 0.47 intronic rs11246268 DEAF1 AR,AD NM_021008 exon11 c.47049+38G>A 0.377796 0.5496 0.358373 0.4399 0.5457 Uncertain 11_694731_G->A 11 694731 694731 G A snp 157.77 0/1 99 19 10 9 0.47 intronic rs762751414 DEAF1 AR,AD NM_021008 exon12 c.50209-27G>A 0 . Uncertain 11_695842_G->A 11 695842 695842 G A snp 382.77 0/1 99 29 14 15 0.52 exonic rs7928305 TMEM80 AU synonymous SNV NM_001042463 exon1 c.G234A p.R78R 0.226238 0.2083 0.2143 . Uncertain 11_695854_C->T 11 695854 695854 C T snp 292.77 0/1 99 21 10 11 0.52 intronic rs7945422 TMEM80 AU NM_001276253 exon1 c.238+8C>T 0.226238 0.2083 0.125 . Uncertain 11_698807_C->T 11 698807 698807 C T snp 1391.77 0/1 99 108 45 63 0.58 intronic rs4963166 TMEM80 AU NM_174940 exon2 c.3260-61C>T 0.373403 0.502 0.380201 Uncertain 11_700247_A->C 11 700247 700247 A C snp 3888.77 1/1 99 141 0 141 1.0 intronic rs7482162 TMEM80 AU NM_174940 exon3 c.4627+12A>C 0.734225 0.9375 0.666077 0.6926 0.9396 Uncertain 11_703175_A->G 11 703175 703175 A G snp 2088.77 0/1 99 167 77 90 0.54 UTR3 rs7107522 TMEM80 AU 0.20627 0.2599 0.166134 0.1821 0.2987 Uncertain 11_704583_A->G 11 704583 704583 A G snp 2469.77 0/1 99 211 106 105 0.5 exonic rs10902201 TMEM80 AU synonymous SNV NM_001276274 exon6 c.A789G p.T263T 0.356629 0.4712 0.4816 0.5 Uncertain 11_704605_A->- 11 704605 704605 A - indel 4927.73 0/1 99 234 109 125 0.53 exonic rs35782494 TMEM80 AU frameshift deletion NM_001276274 exon6 c.811delA p.T271fs 0.355631 0.4702 0.4798 0.5 Pathogenic 11_704753_G->A 11 704753 704753 G A snp 1699.77 1/1 99 59 0 59 1.0 UTR3 rs7941896 TMEM80 AU 0.989018 1 Uncertain 11_709401_A->G 11 709401 709401 A G snp 1164.77 0/1 99 82 35 47 0.57 UTR5 rs10902202 EPS8L2 AU 0.349241 0.4613 0.257019 0.2799 0.4853 Uncertain 11_709680_T->C 11 709680 709680 T C snp 993.77 0/1 99 82 41 41 0.5 intronic rs11605783 EPS8L2 AU NM_022772 exon3 c.201+72T>C 0.648962 0.5367 0.618703 Uncertain 11_710558_G->A 11 710558 710558 G A snp 806.77 0/1 99 82 49 33 0.4 intronic rs7395822 EPS8L2 AU NM_022772 exon4 c.1079+72G>A 0.515575 0.3343 Uncertain 11_721570_C->T 11 721570 721570 C T snp 3146.77 0/1 99 250 135 115 0.46 exonic rs7635 EPS8L2 AU synonymous SNV NM_022772 exon10 c.C774T p.I258I 0.279752 0.1746 0.373028 0.4113 0.1717 Uncertain 11_726178_G->C 11 726178 726178 G C snp 2518.77 1/1 99 101 0 101 1.0 intronic rs28498399 EPS8L2 AU NM_022772 exon18 c.16763+8G>C 1 1 0.9996 1 Uncertain 11_726581_T->C 11 726581 726581 T C snp 1000.77 0/1 99 70 32 38 0.54 intronic rs10902206 EPS8L2 AU NM_022772 exon20 c.17211-37T>C 0.334465 0.38 0.250912 0.2795 0.4071 Uncertain 11_726814_C->G 11 726814 726814 C G snp 510.77 0/1 99 38 21 17 0.45 intronic rs10902207 EPS8L2 AU NM_022772 exon20 c.17344+63C>G 0.330072 0.379 Uncertain 11_758806_C->T 11 758806 758806 C T snp 221.77 0/1 99 19 11 8 0.42 intronic rs56340568 TALDO1 AR NM_006755 exon3 c.11468-143C>T 0.272364 0.2877 Uncertain 11_771034_A->G 11 771034 771034 A G snp 2308.77 0/1 99 175 81 94 0.54 exonic rs7930569 PDDC1 AU synonymous SNV NM_182612 exon7 c.T615C p.T205T 0.432508 0.5605 0.440941 0.4820 0.5711 1.000 P -0.981 T Likely benign 11_774982_C->A 11 774982 774982 C A snp 382.77 0/1 99 28 12 16 0.57 intronic rs7952095 PDDC1 AU NM_182612 exon7 c.4169-83C>A 0.47484 0.5575 Uncertain 11_775275_A->G 11 775275 775275 A G snp 188.77 0/1 99 15 7 8 0.53 intronic rs7942564 PDDC1 AU NM_182612 exon7 c.4246+133A>G 0.451677 0.5575 Uncertain 11_777390_G->A 11 777390 777390 G A snp 209.77 0/1 99 31 19 12 0.39 intronic rs57751948 PDDC1 AU NM_182612 exon8 c.6502-8G>A 0.114816 0.2788 0.1881 0.2778 Uncertain 11_799670_G->C 11 799670 799670 G C snp 339.77 0/1 99 38 20 18 0.47 intronic rs28649421 PIDD1 AU NM_145887 exon1 c.259+105G>C 0.63099 0.6071 Uncertain 11_801631_-->G 11 801631 801631 - G indel 828.73 0/1 99 90 46 44 0.49 intronic rs55974235 PIDD1 AU NM_145887 exon9 c.2318+7insG 0.492889 0.4702 0.5426 Uncertain 11_801706_A->G 11 801706 801706 A G snp 389.77 0/1 99 34 19 15 0.44 intronic rs11246312 PIDD1 AU NM_145887 exon9 c.2318+82A>G 0.115815 0.2639 0.0778 0.2865 Uncertain 11_801776_T->G 11 801776 801776 T G snp 300.77 0/1 99 20 9 11 0.55 intronic rs7479183 PIDD1 AU NM_145887 exon9 c.2318+152T>G 0.468251 0.5357 0.3886 0.4817 Uncertain 11_801849_A->T 11 801849 801849 A T snp 725.77 0/1 99 62 28 34 0.55 intronic rs75177228 PIDD1 AU NM_145887 exon10 c.2658-115A>T 0.0894569 0.2639 0.0543 0.3327 Uncertain 11_802115_A->G 11 802115 802115 A G snp 1801.77 0/1 99 162 86 76 0.47 intronic rs7479101 PIDD1 AU NM_145887 exon10 c.2784+25A>G 0.628994 0.6101 0.672594 0.6054 0.5988 Uncertain 11_802125_T->C 11 802125 802125 T C snp 3950.77 1/1 99 143 0 143 1.0 intronic rs28498421 PIDD1 AU NM_145887 exon10 c.2784+35T>C 0.953275 1 0.953325 0.9493 0.9983 Uncertain 11_802437_G->A 11 802437 802437 G A snp 449.77 0/1 99 60 39 21 0.35 intronic rs59545852 PIDD1 AU NM_145887 exon11 c.3090+41G>A 0.104034 0.2639 0.023073 0.0457 0.2729 Uncertain 11_802902_T->G 11 802902 802902 T G snp 155.77 0/1 99 14 7 7 0.5 intronic rs28360884 PIDD1 AU NM_145887 exon13 c.3585+11T>G 0.633786 0.6101 0.690971 0.6185 0.6523 Uncertain 11_811853_C->T 11 811853 811853 C T snp 238.77 0/1 99 22 13 9 0.41 intronic rs60326265 RPLP2 AU NM_001004 exon3 c.1411+208C>T 0.114417 0.2599 0.036462 0.0507 0.2690 Uncertain 11_822588_C->T 11 822588 822588 C T snp 1811.77 0/1 99 135 68 67 0.5 exonic rs10902224 PNPLA2 AR synonymous SNV NM_020376 exon5 c.C678T p.L226L 0.0978435 0.249 0.021993 0.0441 0.2470 Uncertain 11_823809_C->G 11 823809 823809 C G snp 1748.77 0/1 99 103 37 66 0.64 exonic rs1135628 PNPLA2 AR synonymous SNV NM_020376 exon7 c.C873G p.P291P 0.267173 0.4127 0.191238 0.3462 0.4474 Uncertain 11_824428_G->T 11 824428 824428 G T snp 1241.77 0/1 99 123 70 53 0.43 exonic rs11554663 PNPLA2 AR synonymous SNV NM_020376 exon9 c.G1167T p.L389L 0.0972444 0.247 0.018991 0.0828 0.3290 ID=COSM3667007;OCCURENCE=1(liver) Uncertain 11_824789_T->C 11 824789 824789 T C snp 2280.77 0/1 99 149 60 89 0.6 exonic rs1138693 PNPLA2 AR nonsynonymous SNV NM_020376 exon10 c.T1442C p.L481P 0.654353 0.6002 0.706844 0.5924 0.6723 0.84 T 0.0 P -1.017 T 0.943 T 0.766 D ID=CM108999;DIS=Myopathy, late-onset;TAG=DM;PUB=25287355 DM Pathogenic 11_824805_C->T 11 824805 824805 C T snp 2870.77 0/1 99 180 66 114 0.63 exonic rs1138694 PNPLA2 AR synonymous SNV NM_020376 exon10 c.C1458T p.P486P 0.267572 0.3224 0.121300 0.2274 0.4237 Uncertain 11_824988_TGCA->- 11 824988 824991 TGCA - indel 4491.73 0/1 99 171 85 86 0.5 UTR3 rs398054898 PNPLA2 AR 0.645966 0.5873 0.5751 0.6075 Uncertain 11_828784_A->G 11 828784 828784 A G snp 1416.77 0/1 99 139 75 64 0.46 intronic rs28507876 CRACR2B AU NM_173584 exon1 c.165+12A>G 0.785144 0.9107 0.801968 0.7683 0.9201 Uncertain 11_829539_A->G 11 829539 829539 A G snp 444.77 0/1 99 36 20 16 0.44 exonic rs28558789 CRACR2B AU nonsynonymous SNV NM_001286606 exon3 c.A457G p.K153E 0.665535 0.8929 0.660720 0.7011 0.9026 0.52 T 1.000 P -1.029 T 0.0 T 0.0 T Pathogenic 11_830487_C->T 11 830487 830487 C T snp 1899.77 0/1 99 175 91 84 0.48 intronic rs4075290 CRACR2B AU NM_173584 exon6 c.2013-133C>T 0.653155 0.8899 0.5416 0.8885 Uncertain 11_830670_G->T 11 830670 830670 G T snp 542.77 0/1 99 62 37 25 0.4 exonic rs4075289 CRACR2B AU nonsynonymous SNV NM_001286606 exon6 c.G743T p.S248I 0.652356 0.8909 0.691430 0.5579 0.8638 0.27 T 0.000 P -1.033 T 0.688 T 0.181 P Pathogenic 11_831122_C->T 11 831122 831122 C T snp 847.77 0/1 99 77 44 33 0.43 intronic rs7114218 CRACR2B AU NM_001286606 exon7 c.2425+90C>T 0.652356 0.8909 0.7124 0.9030 Uncertain 11_836008_T->C 11 836008 836008 T C snp 500.77 0/1 99 52 31 21 0.4 intronic rs5030778 CD151 AU 0.643171 0.8532 Uncertain 11_836023_C->T 11 836023 836023 C T snp 1847.77 1/1 99 72 0 72 1.0 intronic rs28475448 CD151 AU 0.967252 0.999 0.946456 0.9562 0.9999 Uncertain 11_836227_A->G 11 836227 836227 A G snp 3037.77 1/1 99 92 0 92 1.0 intronic rs28434354 CD151 AU NM_001039490 exon3 c.181-23A>G 0.969249 0.999 0.948621 0.9566 0.9999 Uncertain 11_836540_G->- 11 836540 836540 G - indel 2339.73 1/1 99 84 0 84 1.0 intronic rs398075671 CD151 AU NM_001039490 exon3 c.373+98delG 0.949081 0.996 Uncertain 11_836971_G->C 11 836971 836971 G C snp 299.77 0/1 49 13 2 11 0.85 intronic rs28620453 CD151 AU NM_001039490 exon4 c.774+128G>C 0.642772 0.8552 Uncertain 11_837059_C->T 11 837059 837059 C T snp 80.77 0/1 28 4 1 3 0.75 intronic rs76638476 CD151 AU NM_001039490 exon5 c.1180-190C>T 0.00878594 0.0417 Uncertain 11_837084_G->A 11 837084 837084 G A snp 130.77 0/1 99 11 6 5 0.45 intronic rs34956804 CD151 AU NM_001039490 exon5 c.1180-165G>A 0.323083 0.1438 Uncertain 11_837121_G->C 11 837121 837121 G C snp 403.77 0/1 99 33 18 15 0.45 intronic rs28655651 CD151 AU NM_001039490 exon5 c.1180-128G>C 0.646366 0.8552 Uncertain 11_837582_G->A 11 837582 837582 G A snp 1527.77 0/1 99 106 44 62 0.58 exonic rs1130663 CD151 AU synonymous SNV NM_004357 exon7 c.G579A p.G193G 0.642173 0.8552 0.634580 0.6697 0.8576 Uncertain 11_837663_G->- 11 837663 837663 G - indel 165.73 0/1 99 18 8 10 0.56 intronic rs67261431 CD151 AU NM_001039490 exon6 c.1549+45delG 0.446303 0.4010 0.7002 Uncertain 11_838110_C->T 11 838110 838110 C T snp 3486.77 0/1 99 250 102 148 0.59 intronic rs5030780 CD151 AU NM_001039490 exon8 c.2063-22C>T 0.641573 0.8552 0.634308 0.6697 0.8579 Uncertain 11_840251_C->G 11 840251 840251 C G snp 472.77 1/1 36 12 0 12 1.0 UTR3 rs11629 POLR2L AU 0.969249 0.999 Uncertain 11_840319_C->T 11 840319 840319 C T snp 732.77 0/1 99 88 56 32 0.36 UTR3 rs3059 POLR2L AU 0.640974 0.8552 Uncertain 11_840477_A->G 11 840477 840477 A G snp 1989.77 0/1 99 177 92 85 0.48 exonic rs4895 POLR2L AU synonymous SNV NM_021128 exon2 c.T99C p.D33D 0.642173 0.8552 0.633826 0.6703 0.8588 Uncertain 11_840579_C->- 11 840579 840579 C - indel 1247.73 0/1 99 83 32 51 0.61 intronic rs34627090 POLR2L AU NM_021128 exon1 c.109+99delC Uncertain 11_840604_C->G 11 840604 840604 C G snp 845.77 0/1 99 57 22 35 0.61 intronic rs28677123 POLR2L AU NM_021128 exon1 c.109+124C>G 0.641174 0.8552 Uncertain 11_840639_T->A 11 840639 840639 T A snp 424.77 0/1 99 28 12 16 0.57 intronic rs28636471 POLR2L AU NM_021128 exon1 c.109+159T>A 0.640974 0.8552 Uncertain 11_842543_C->G 11 842543 842543 C G snp 1739.77 0/1 99 169 92 77 0.46 upstream rs28372895 POLR2L AU 0.642971 0.8571 0.633442 0.6722 0.8564 Uncertain 11_842627_T->C 11 842627 842627 T C snp 419.77 0/1 99 31 16 15 0.48 upstream rs9705236 POLR2L AU 0.654153 0.8601 Uncertain 11_842630_C->T 11 842630 842630 C T snp 392.77 0/1 99 30 16 14 0.47 upstream rs9704020 POLR2L AU 0.646965 0.8601 Uncertain 11_842653_C->G 11 842653 842653 C G snp 459.77 1/1 36 13 0 13 1.0 upstream rs35249369 POLR2L AU 0.991214 1 Uncertain 11_842682_A->G 11 842682 842682 A G snp 86.77 0/1 30 4 1 3 0.75 upstream rs9704919 POLR2L AU 0.645966 0.8552 Uncertain 11_849090_C->G 11 849090 849090 C G snp 480.77 1/1 36 18 0 18 1.0 intronic rs28402197 TSPAN4 AU 0.961262 0.999 Uncertain 11_850170_T->G 11 850170 850170 T G snp 5594.77 1/1 99 195 0 195 1.0 intronic rs28704105 TSPAN4 AU 0.991813 0.999 Uncertain 11_862652_T->C 11 862652 862652 T C snp 3412.77 1/1 99 124 0 124 1.0 exonic rs28505621 TSPAN4 AU synonymous SNV NM_001025238 exon3 c.T166C p.L56L 0.991613 1 0.992541 0.9976 1 Uncertain 11_864626_A->G 11 864626 864626 A G snp 1545.77 1/1 99 50 0 50 1.0 intronic rs28377158 TSPAN4 AU NM_003271 exon5 c.14207+115A>G 0.990415 1 Uncertain 11_865447_G->A 11 865447 865447 G A snp 401.77 1/1 30 13 0 13 1.0 intronic rs28423070 TSPAN4 AU NM_003271 exon6 c.15208-65G>A 0.984026 1 Uncertain 11_865503_G->A 11 865503 865503 G A snp 671.77 1/1 51 24 0 24 1.0 intronic rs28581489 TSPAN4 AU NM_003271 exon6 c.15208-9G>A 0.973642 1 0.974227 0.9932 1 Uncertain 11_866044_A->G 11 866044 866044 A G snp 1150.77 1/1 81 43 0 43 1.0 intronic rs28457111 TSPAN4 AU NM_003271 exon8 c.15697+43A>G 0.991613 1 0.992153 0.9975 1 Uncertain 11_866183_T->C 11 866183 866183 T C snp 96.28 1/1 9 3 0 3 1.0 intronic rs28439203 TSPAN4 AU NM_003271 exon8 c.15697+182T>C 0.991014 1 Uncertain 11_866498_T->C 11 866498 866498 T C snp 2838.77 1/1 99 102 0 102 1.0 intronic rs28663055 TSPAN4 AU NM_003271 exon9 c.16257-63T>C 0.991014 1 0.991240 Uncertain 11_866499_G->A 11 866499 866499 G A snp 1226.77 0/1 99 104 53 51 0.49 intronic rs34165342 TSPAN4 AU NM_003271 exon9 c.16257-62G>A 0.182708 0.1538 0.103592 Uncertain 11_866794_A->G 11 866794 866794 A G snp 81.28 1/1 9 3 0 3 1.0 UTR3 rs7091 TSPAN4 AU 0.625 0.7629 Uncertain 11_870446_G->A 11 870446 870446 G A snp 1307.77 1/1 93 51 0 51 1.0 exonic rs6682 CHID1 AU nonsynonymous SNV NM_001142677 exon10 c.C920T p.A307V 0.56889 0.7639 0.476912 0.5466 0.7509 0.24 T 0.986 P -1.006 T 0.661 T 0.363 P Pathogenic 11_900894_T->G 11 900894 900894 T G snp 1925.77 1/1 99 65 0 65 1.0 intronic rs28454252 CHID1 AU NM_001142675 exon9 c.31078-41T>G 0.987819 1 0.988002 0.9965 1 Uncertain 11_900929_C->G 11 900929 900929 C G snp 2803.77 1/1 99 98 0 98 1.0 intronic rs10794339 CHID1 AU NM_001142675 exon9 c.31078-6C>G 0.677117 0.7579 0.602891 0.5963 0.7437 Uncertain 11_903070_G->C 11 903070 903070 G C snp 6505.77 1/1 99 237 0 237 1.0 exonic rs28380110 CHID1 AU synonymous SNV NM_001142675 exon3 c.C153G p.V51V 0.991414 1 0.991157 0.9975 1 Uncertain 11_993694_G->A 11 993694 993694 G A snp 781.77 0/1 99 61 31 30 0.49 intronic rs36081583 AP2A2 AU NM_012305 exon13 c.67732-59G>A 0.175719 0.1101 Uncertain 11_993745_C->G 11 993745 993745 C G snp 1769.77 0/1 99 149 72 77 0.52 intronic rs7104956 AP2A2 AU NM_012305 exon13 c.67732-8C>G 0.190695 0.0863 0.189961 0.3279 0.1990 Uncertain 11_993907_C->G 11 993907 993907 C G snp 3083.77 0/1 99 244 120 124 0.51 exonic rs11538725 AP2A2 AU synonymous SNV NM_001242837 exon13 c.C1707G p.L569L 0.184505 0.2976 0.130967 0.1162 0.2612 Uncertain 11_1010649_C->T 11 1010649 1010649 C T snp 702.77 0/1 99 97 60 37 0.38 UTR3 rs72842410 AP2A2 AU 0.166733 0.2927 0.095332 0.2308 0.3930 0.12 T 0.0 P -0.965 T Uncertain 11_1016569_A->T 11 1016569 1016569 A T snp 30.77 0/1 59 109 98 11 0.1 exonic MUC6 AU nonsynonymous SNV NM_005961 exon31 c.T6232A p.F2078I 0.46 T 1 N -0.969 T 0.063 T 0.01 T Pathogenic 11_1016570_T->A 11 1016570 1016570 T A snp 204.77 0/1 99 113 95 18 0.16 exonic MUC6 AU synonymous SNV NM_005961 exon31 c.A6231T p.S2077S Uncertain 11_1016576_G->C 11 1016576 1016576 G C snp 74.77 0/1 99 119 106 13 0.11 exonic rs117699732 MUC6 AU nonsynonymous SNV NM_005961 exon31 c.C6225G p.H2075Q 0.0013 0 0.5 T 1 N -0.981 T 0.012 T 0.011 T Pathogenic 11_1016579_G->C 11 1016579 1016579 G C snp 179.77 0/1 99 120 108 12 0.1 exonic MUC6 AU synonymous SNV NM_005961 exon31 c.C6222G p.T2074T Uncertain 11_1016581_T->C 11 1016581 1016581 T C snp 1044.77 0/1 99 123 68 55 0.45 exonic rs115593063 MUC6 AU nonsynonymous SNV NM_005961 exon31 c.A6220G p.T2074A 0.0018 0.0041 0.59 T 1 N -0.962 T 0.0 T 0.0 T Pathogenic 11_1016593_C->T 11 1016593 1016593 C T snp 53.77 0/1 82 188 159 29 0.15 exonic MUC6 AU nonsynonymous SNV NM_005961 exon31 c.G6208A p.G2070R 0.55 T 1 N -0.967 T 0.002 T 0.001 T Pathogenic 11_1016594_A->G 11 1016594 1016594 A G snp 827.77 0/1 99 188 151 37 0.2 exonic rs137864916 MUC6 AU synonymous SNV NM_005961 exon31 c.T6207C p.S2069S 4.495e-05 0 Uncertain 11_1016604_A->G 11 1016604 1016604 A G snp 1152.77 0/1 99 191 131 60 0.31 exonic rs148590913 MUC6 AU nonsynonymous SNV NM_005961 exon31 c.T6197C p.V2066A 0.0015 0.0007 1 T 1 N -1.044 T 0.0 T 0.0 T Pathogenic 11_1016605_C->G 11 1016605 1016605 C G snp 883.77 0/1 99 193 152 41 0.21 exonic rs147913342 MUC6 AU nonsynonymous SNV NM_005961 exon31 c.G6196C p.V2066L 0.0016 0.0011 0.26 T 1 N -0.982 T 0.019 T 0.007 T Pathogenic 11_1016606_T->C 11 1016606 1016606 T C snp 1177.77 0/1 99 193 133 60 0.31 exonic rs148905794 MUC6 AU synonymous SNV NM_005961 exon31 c.A6195G p.T2065T 0.0017 0.0011 Uncertain 11_1016609_C->G 11 1016609 1016609 C G snp 391.77 0/1 99 194 151 43 0.22 exonic rs73403291 MUC6 AU nonsynonymous SNV NM_005961 exon31 c.G6192C p.M2064I 0.1304 0.1598 0.24 T 0.0 P -1.000 T 0.047 T 0.012 T Pathogenic 11_1016613_G->C 11 1016613 1016613 G C snp 118.77 0/1 99 192 153 39 0.2 exonic MUC6 AU nonsynonymous SNV NM_005961 exon31 c.C6188G p.P2063R 0.04 T 1 N -1.042 T 0.622 T 0.149 P Pathogenic 11_1016614_G->T 11 1016614 1016614 G T snp 438.77 0/1 99 191 165 26 0.14 exonic rs148793744 MUC6 AU nonsynonymous SNV NM_005961 exon31 c.C6187A p.P2063T 0.0004 0.0006 0.08 T 1 N -0.990 T 0.006 T 0.006 T Pathogenic 11_1016618_G->C 11 1016618 1016618 G C snp 465.77 0/1 99 191 149 42 0.22 exonic rs151061093 MUC6 AU synonymous SNV NM_005961 exon31 c.C6183G p.A2061A 0.0005 0.0010 Uncertain 11_1016627_G->C 11 1016627 1016627 G C snp 106.77 0/1 99 185 149 36 0.19 exonic MUC6 AU synonymous SNV NM_005961 exon31 c.C6174G p.T2058T Uncertain 11_1016630_G->A 11 1016630 1016630 G A snp 82.77 0/1 99 187 175 12 0.06 exonic rs369775657 MUC6 AU synonymous SNV NM_005961 exon31 c.C6171T p.S2057S 0.003857 0.0043 0.0038 Uncertain 11_1016640_G->A 11 1016640 1016640 G A snp 325.77 0/1 99 215 179 36 0.17 exonic rs111704427 MUC6 AU nonsynonymous SNV NM_005961 exon31 c.C6161T p.A2054V 0.2735 0.2927 0.34 T 1 N -0.985 T 0.027 T 0.007 T Pathogenic 11_1016647_G->C 11 1016647 1016647 G C snp 149.77 0/1 99 234 209 25 0.11 exonic MUC6 AU nonsynonymous SNV NM_005961 exon31 c.C6154G p.L2052V 1 T 1 N -0.976 T 0.0 T 0.0 T Pathogenic 11_1016654_T->C 11 1016654 1016654 T C snp 297.77 0/1 99 250 201 49 0.2 exonic rs77560588 MUC6 AU synonymous SNV NM_005961 exon31 c.A6147G p.P2049P 0.0010 0.0001 Uncertain 11_1016655_G->A 11 1016655 1016655 G A snp 737.77 0/1 99 249 190 59 0.24 exonic rs77024070 MUC6 AU nonsynonymous SNV NM_005961 exon31 c.C6146T p.P2049L 0.3277 0.3596 0.31 T 1 N -1.040 T 0.0 T 0.0 T Pathogenic 11_1016665_C->T 11 1016665 1016665 C T snp 2419.77 0/1 99 250 130 120 0.48 exonic rs77438942 MUC6 AU nonsynonymous SNV NM_005961 exon31 c.G6136A p.V2046I 0.4921 0.4954 0.7 T 1 N -0.999 T 0.002 T 0.0 T Pathogenic 11_1016704_C->A 11 1016704 1016704 C A snp 1105.77 0/1 99 249 184 65 0.26 exonic rs75826443 MUC6 AU nonsynonymous SNV NM_005961 exon31 c.G6097T p.A2033S 0.4095 0.4549 0.95 T 1 N -0.990 T 0.0 T 0.0 T Pathogenic 11_1016713_T->C 11 1016713 1016713 T C snp 1451.77 0/1 99 250 156 94 0.38 exonic rs76406481 MUC6 AU nonsynonymous SNV NM_005961 exon31 c.A6088G p.T2030A 0.000798722 0.4176 0.4535 0.87 T 1 N -0.986 T 0.0 T 0.0 T Pathogenic 11_1016715_T->C 11 1016715 1016715 T C snp 103.77 0/1 99 250 227 23 0.09 exonic rs78295717 MUC6 AU nonsynonymous SNV NM_005961 exon31 c.A6086G p.H2029R 0.0003 0.0003 0.81 T 1 N -0.929 T 0.0 T 0.001 T Pathogenic 11_1016719_T->G 11 1016719 1016719 T G snp 93.77 0/1 99 250 230 20 0.08 exonic rs757123517 MUC6 AU nonsynonymous SNV NM_005961 exon31 c.A6082C p.T2028P 0.0003 0.0003 0.33 T 1 N -1.054 T 0.948 T 0.478 D Pathogenic 11_1016722_T->G 11 1016722 1016722 T G snp 2656.77 0/1 99 250 147 103 0.41 exonic rs144616203 MUC6 AU nonsynonymous SNV NM_005961 exon31 c.A6079C p.T2027P 0.00439297 0.001 0.1004 0.0840 0.33 T 1 N -0.975 T 0.0 T 0.0 T Pathogenic 11_1016724_A->G 11 1016724 1016724 A G snp 3788.77 0/1 99 250 116 134 0.54 exonic rs3208810 MUC6 AU nonsynonymous SNV NM_005961 exon31 c.T6077C p.I2026T 0.000998403 0.4167 0.4423 1 T 1 N -0.948 T 0.0 T 0.0 T Pathogenic 11_1016756_G->A 11 1016756 1016756 G A snp 859.77 0/1 99 250 195 55 0.22 exonic rs537530758 MUC6 AU synonymous SNV NM_005961 exon31 c.C6045T p.S2015S 0.00259585 0.2409 0.2538 Uncertain 11_1016776_C->T 11 1016776 1016776 C T snp 2083.77 0/1 99 250 126 124 0.5 exonic rs33988517 MUC6 AU nonsynonymous SNV NM_005961 exon31 c.G6025A p.V2009I 0.4653 0.4207 0.65 T 1 N -0.961 T 0.002 T 0.001 T Pathogenic 11_1016795_C->G 11 1016795 1016795 C G snp 125.77 0/1 99 249 227 22 0.09 exonic rs111397691 MUC6 AU nonsynonymous SNV NM_005961 exon31 c.G6006C p.Q2002H 0.1194 0.1343 0.59 T 1 N -1.037 T 0.697 T 0.201 P Pathogenic 11_1016800_G->A 11 1016800 1016800 G A snp 130.77 0/1 99 250 221 29 0.12 exonic rs199626069 MUC6 AU nonsynonymous SNV NM_005961 exon31 c.C6001T p.P2001S 0.0050 0.0030 0.38 T 1 N -0.994 T 0.036 T 0.014 T Pathogenic 11_1016802_T->A 11 1016802 1016802 T A snp 49.77 0/1 78 250 227 23 0.09 exonic rs77342817 MUC6 AU nonsynonymous SNV NM_005961 exon31 c.A5999T p.H2000L 6.602e-05 0 0.67 T 1 N -0.935 T 0.001 T 0.001 T Pathogenic 11_1016810_G->T 11 1016810 1016810 G T snp 231.77 0/1 99 250 223 27 0.11 exonic rs75998609 MUC6 AU synonymous SNV NM_005961 exon31 c.C5991A p.T1997T 0.0001 0.0002 Uncertain 11_1016834_G->A 11 1016834 1016834 G A snp 2473.77 0/1 99 250 162 88 0.35 exonic rs34740154 MUC6 AU synonymous SNV NM_005961 exon31 c.C5967T p.F1989F 0.00179712 0.001 0.4262 0.4621 Uncertain 11_1016869_A->T 11 1016869 1016869 A T snp 3875.77 0/1 99 250 88 162 0.65 exonic rs35469308 MUC6 AU nonsynonymous SNV NM_005961 exon31 c.T5932A p.F1978I 0.0299521 0.001 0.4925 0.4855 0.41 T 1 N -0.987 T 0.0 T 0.0 T Pathogenic 11_1016890_G->A 11 1016890 1016890 G A snp 1577.77 0/1 99 250 188 62 0.25 exonic rs113508205 MUC6 AU nonsynonymous SNV NM_005961 exon31 c.C5911T p.P1971S 0.4330 0.4573 0.9 T 1 N -0.895 T 0.003 T 0.001 T Pathogenic 11_1016894_G->A 11 1016894 1016894 G A snp 2130.77 0/1 99 250 161 89 0.36 exonic rs34281988 MUC6 AU synonymous SNV NM_005961 exon31 c.C5907T p.H1969H 0.3851 0.3604 Uncertain 11_1016910_G->A 11 1016910 1016910 G A snp 1203.77 0/1 99 250 189 61 0.24 exonic rs113559934 MUC6 AU nonsynonymous SNV NM_005961 exon31 c.C5891T p.T1964I 0.4023 0.3819 0.06 T 1 N -1.007 T 0.767 T 0.258 P CLINSIG=untested;CLNDBN=Malignant_melanoma;CLNREVSTAT=no_assertion_provided;CLNACC=RCV000069127.2;CLNDSDB=MedGen:SNOMED_CT;CLNDSDBID=C0025202:2092003 Pathogenic 11_1016914_G->T 11 1016914 1016914 G T snp 2090.77 0/1 99 250 166 84 0.34 exonic rs74632841 MUC6 AU nonsynonymous SNV NM_005961 exon31 c.C5887A p.P1963T 0.1104 0.1039 0.88 T 1 N -0.961 T 0.0 T 0.0 T Pathogenic 11_1016916_A->G 11 1016916 1016916 A G snp 92.77 0/1 99 250 221 29 0.12 exonic rs771995197 MUC6 AU nonsynonymous SNV NM_005961 exon31 c.T5885C p.L1962P 0.0002 0.0004 0.25 T 1 N -0.950 T 0.0 T 0.0 T Pathogenic 11_1016918_C->T 11 1016918 1016918 C T snp 206.77 0/1 99 250 223 27 0.11 exonic rs34375705 MUC6 AU synonymous SNV NM_005961 exon31 c.G5883A p.R1961R 0.3018 0.2924 Uncertain 11_1016928_C->G 11 1016928 1016928 C G snp 6315.77 0/1 99 250 41 209 0.84 exonic rs34053383 MUC6 AU nonsynonymous SNV NM_005961 exon31 c.G5873C p.S1958T 0.0309505 0.4980 0.4982 1 T 1 N -0.939 T 0.0 T 0.0 T Pathogenic 11_1016933_C->T 11 1016933 1016933 C T snp 1640.77 0/1 99 250 177 73 0.29 exonic rs199579978 MUC6 AU synonymous SNV NM_005961 exon31 c.G5868A p.S1956S 0.1150 0.1098 Uncertain 11_1016957_T->G 11 1016957 1016957 T G snp 1101.77 0/1 99 246 174 72 0.29 exonic rs200695483 MUC6 AU nonsynonymous SNV NM_005961 exon31 c.A5844C p.R1948S 0.0894 0.1184 0.56 T 1 N -0.950 T 0.0 T 0.0 T Pathogenic 11_1016959_T->C 11 1016959 1016959 T C snp 401.77 0/1 99 250 218 32 0.13 exonic rs201219964 MUC6 AU nonsynonymous SNV NM_005961 exon31 c.A5842G p.R1948G 0.0738 0.0856 0.43 T 1 N -0.936 T 0.0 T 0.0 T Pathogenic 11_1016960_G->T 11 1016960 1016960 G T snp 172.77 0/1 99 250 224 26 0.1 exonic rs113980831 MUC6 AU synonymous SNV NM_005961 exon31 c.C5841A p.T1947T 0.1066 0.0421 Uncertain 11_1016963_G->T 11 1016963 1016963 G T snp 752.77 0/1 99 250 205 45 0.18 exonic rs76273000 MUC6 AU synonymous SNV NM_005961 exon31 c.C5838A p.G1946G 0.0780 0.0888 Uncertain 11_1016976_T->G 11 1016976 1016976 T G snp 1225.77 0/1 99 249 191 58 0.23 exonic rs78728217 MUC6 AU nonsynonymous SNV NM_005961 exon31 c.A5825C p.H1942P 0.1193 0.1141 0.23 T 1 N -0.973 T 0.0 T 0.0 T Pathogenic 11_1016978_T->G 11 1016978 1016978 T G snp 1945.77 0/1 99 249 128 121 0.49 exonic rs76461263 MUC6 AU nonsynonymous SNV NM_005961 exon31 c.A5823C p.K1941N 0.000599042 0.001 0.4007 0.4090 0.51 T 1 N -0.957 T 0.001 T 0.001 T Pathogenic 11_1017023_G->A 11 1017023 1017023 G A snp 1767.77 0/1 99 250 175 75 0.3 exonic rs78989655 MUC6 AU synonymous SNV NM_005961 exon31 c.C5778T p.H1926H 0.000998403 0.001 0.1257 0.1468 Uncertain 11_1017029_T->G 11 1017029 1017029 T G snp 3268.77 0/1 99 250 132 118 0.47 exonic rs35621365 MUC6 AU synonymous SNV NM_005961 exon31 c.A5772C p.S1924S 0.5001 0.5019 Uncertain 11_1017036_G->A 11 1017036 1017036 G A snp 1490.77 0/1 99 250 184 66 0.26 exonic rs75538227 MUC6 AU nonsynonymous SNV NM_005961 exon31 c.C5765T p.T1922I 1.476e-05 0 0.09 T 1 N -1.012 T 0.08 T 0.037 T Pathogenic 11_1017041_G->T 11 1017041 1017041 G T snp 1852.77 0/1 99 243 160 83 0.34 exonic rs75482640 MUC6 AU stopgain NM_005961 exon31 c.C5760A p.Y1920X 0.0003 0.0002 1 T 1 A Pathogenic 11_1017042_T->G 11 1017042 1017042 T G snp 2097.77 0/1 99 245 162 83 0.34 exonic rs80049949 MUC6 AU nonsynonymous SNV NM_005961 exon31 c.A5759C p.Y1920S 0.0003 0.0002 0.62 T 1 N -0.944 T 0.0 T 0.0 T Pathogenic 11_1017045_G->T 11 1017045 1017045 G T snp 2183.77 0/1 99 250 161 89 0.36 exonic rs77885750 MUC6 AU nonsynonymous SNV NM_005961 exon31 c.C5756A p.P1919H 0.1621 0.1784 0.56 T 1 N -1.066 T 0.0 T 0.0 T Pathogenic 11_1017068_C->T 11 1017068 1017068 C T snp 164.77 0/1 99 250 212 38 0.15 exonic rs78992004 MUC6 AU synonymous SNV NM_005961 exon31 c.G5733A p.T1911T 0.0056 0.0072 Uncertain 11_1017069_G->A 11 1017069 1017069 G A snp 515.77 0/1 99 248 217 31 0.13 exonic rs80333708 MUC6 AU nonsynonymous SNV NM_005961 exon31 c.C5732T p.T1911M 0.4682 0.4531 0.04 T 1.000 N -0.978 T 1.0 D 0.993 D Pathogenic 11_1017074_A->G 11 1017074 1017074 A G snp 168.77 0/1 99 249 213 36 0.14 exonic rs79277162 MUC6 AU synonymous SNV NM_005961 exon31 c.T5727C p.F1909F 0.0041 0.0051 Uncertain 11_1017084_G->A 11 1017084 1017084 G A snp 929.77 0/1 99 250 204 46 0.18 exonic rs34649796 MUC6 AU nonsynonymous SNV NM_005961 exon31 c.C5717T p.P1906L 0.4962 0.4942 0.23 T 1 N -0.963 T 0.076 T 0.082 T Pathogenic 11_1017088_A->C 11 1017088 1017088 A C snp 151.77 0/1 99 250 212 38 0.15 exonic rs74990443 MUC6 AU nonsynonymous SNV NM_005961 exon31 c.T5713G p.S1905A 0.0026 0.0036 0.81 T 1 N -1.022 T 0.076 T 0.113 T Pathogenic 11_1017110_C->T 11 1017110 1017110 C T snp 2735.77 0/1 99 246 147 99 0.4 exonic rs36130410 MUC6 AU synonymous SNV NM_005961 exon31 c.G5691A p.P1897P 0.00119808 0.4717 0.4879 Uncertain 11_1017112_G->C 11 1017112 1017112 G C snp 2880.77 0/1 99 246 136 110 0.45 exonic rs77753732 MUC6 AU nonsynonymous SNV NM_005961 exon31 c.C5689G p.P1897A 0.4733 0.4885 0.62 T 1 N -1.017 T 0.077 T 0.143 T Pathogenic 11_1017113_T->C 11 1017113 1017113 T C snp 4399.77 0/1 99 249 90 159 0.64 exonic rs74202058 MUC6 AU synonymous SNV NM_005961 exon31 c.A5688G p.T1896T 0.4943 0.4970 Uncertain 11_1017154_T->G 11 1017154 1017154 T G snp 415.77 0/1 99 250 208 42 0.17 exonic rs112965257 MUC6 AU nonsynonymous SNV NM_005961 exon31 c.A5647C p.I1883L 0.0471 0.0304 0.83 T 1 N -0.941 T 0.047 T 0.068 T Pathogenic 11_1017158_G->T 11 1017158 1017158 G T snp 196.77 0/1 99 250 212 38 0.15 exonic rs36143620 MUC6 AU synonymous SNV NM_005961 exon31 c.C5643A p.T1881T 0.0391 0.0271 Uncertain 11_1017173_G->A 11 1017173 1017173 G A snp 3861.77 0/1 99 250 123 127 0.51 exonic rs61869004 MUC6 AU synonymous SNV NM_005961 exon31 c.C5628T p.T1876T 0.4958 0.4992 Uncertain 11_1017183_G->T 11 1017183 1017183 G T snp 571.77 0/1 99 250 219 31 0.12 exonic rs34844844 MUC6 AU nonsynonymous SNV NM_005961 exon31 c.C5618A p.P1873Q 0.000399361 0.001 0.4864 0.4836 0.24 T 1 N -1.060 T 0.999 D 0.994 D Pathogenic 11_1017220_T->C 11 1017220 1017220 T C snp 4720.77 0/1 99 250 71 179 0.72 exonic rs56238842 MUC6 AU nonsynonymous SNV NM_005961 exon31 c.A5581G p.T1861A 0.4991 0.4994 0.91 T 1 N -0.935 T 0.158 T 0.202 T Pathogenic 11_1017231_A->G 11 1017231 1017231 A G snp 4741.77 0/1 99 250 76 174 0.7 exonic rs35840539 MUC6 AU nonsynonymous SNV NM_005961 exon31 c.T5570C p.I1857T 0.4984 0.4967 0.53 T 1.000 N -0.939 T 0.077 T 0.063 T Pathogenic 11_1017239_C->T 11 1017239 1017239 C T snp 4499.77 0/1 99 248 71 177 0.71 exonic rs56386804 MUC6 AU synonymous SNV NM_005961 exon31 c.G5562A p.T1854T 0.0493211 0.1766 0.4912 0.4965 Uncertain 11_1017240_G->A 11 1017240 1017240 G A snp 3525.77 0/1 99 250 118 132 0.53 exonic rs34507884 MUC6 AU nonsynonymous SNV NM_005961 exon31 c.C5561T p.T1854M 0.0501198 0.1776 0.4893 0.4872 0.14 T 1 N -1.076 T 1.0 D 0.996 D Pathogenic 11_1017302_G->C 11 1017302 1017302 G C snp 1431.77 0/1 99 250 185 65 0.26 exonic rs35330958 MUC6 AU nonsynonymous SNV NM_005961 exon31 c.C5499G p.H1833Q 0.00139776 0.4772 0.4726 0.59 T 1 N -0.928 T 0.046 T 0.041 T Pathogenic 11_1017307_G->A 11 1017307 1017307 G A snp 49.77 0/1 78 250 222 28 0.11 exonic rs372717767 MUC6 AU nonsynonymous SNV NM_005961 exon31 c.C5494T p.P1832S 0.022398 0.0835 0.0590 0.21 T 1 N -1.070 T 0.85 T 0.676 P Pathogenic 11_1017317_G->T 11 1017317 1017317 G T snp 1515.77 0/1 99 250 176 74 0.3 exonic rs33943903 MUC6 AU synonymous SNV NM_005961 exon31 c.C5484A p.T1828T 0.4177 0.4167 Uncertain 11_1017325_A->C 11 1017325 1017325 A C snp 2024.77 0/1 99 250 177 73 0.29 exonic rs55903826 MUC6 AU nonsynonymous SNV NM_005961 exon31 c.T5476G p.Y1826D 0.4985 0.4998 0.22 T 1 N -1.085 T 0.999 D 0.993 D Pathogenic 11_1017337_T->C 11 1017337 1017337 T C snp 1708.77 0/1 99 247 177 70 0.28 exonic rs76686156 MUC6 AU nonsynonymous SNV NM_005961 exon31 c.A5464G p.T1822A 0.3359 0.3315 1 T 0.999 N -1.021 T 0.737 T 0.554 P Pathogenic 11_1017338_C->A 11 1017338 1017338 C A snp 1696.77 0/1 99 250 180 70 0.28 exonic rs78943453 MUC6 AU nonsynonymous SNV NM_005961 exon31 c.G5463T p.Q1821H 0.3359 0.3316 0.27 T 1.000 N -1.000 T 0.369 T 0.221 T Pathogenic 11_1017381_G->C 11 1017381 1017381 G C snp 893.77 0/1 99 248 193 55 0.22 exonic rs34912894 MUC6 AU nonsynonymous SNV NM_005961 exon31 c.C5420G p.T1807S 0.3826 0.3584 1 T 1 N -0.967 T 0.05 T 0.074 T Pathogenic 11_1017384_G->C 11 1017384 1017384 G C snp 1428.77 0/1 99 250 175 75 0.3 exonic rs34095361 MUC6 AU nonsynonymous SNV NM_005961 exon31 c.C5417G p.T1806S 0.000798722 0.4890 0.4807 0.8 T 1 N -0.931 T 0.05 T 0.108 T Pathogenic 11_1017417_G->A 11 1017417 1017417 G A snp 142.77 0/1 99 250 221 29 0.12 exonic rs766630087 MUC6 AU nonsynonymous SNV NM_005961 exon31 c.C5384T p.T1795I 7.448e-05 0.0001 0.08 T 1 N -1.091 T 0.999 D 0.986 D Pathogenic 11_1017421_G->T 11 1017421 1017421 G T snp 2062.77 0/1 99 250 161 89 0.36 exonic rs35549382 MUC6 AU nonsynonymous SNV NM_005961 exon31 c.C5380A p.P1794T 0.4244 0.3791 0.59 T 1 N -1.030 T 0.761 T 0.645 P Pathogenic 11_1017440_C->T 11 1017440 1017440 C T snp 1830.77 0/1 99 250 156 94 0.38 exonic rs78729877 MUC6 AU synonymous SNV NM_005961 exon31 c.G5361A p.S1787S 0.3076 0.2320 Uncertain 11_1017443_C->G 11 1017443 1017443 C G snp 2561.77 0/1 99 250 133 117 0.47 exonic rs80266715 MUC6 AU synonymous SNV NM_005961 exon31 c.G5358C p.T1786T 0.000399361 0.4188 0.3792 Uncertain 11_1017464_T->G 11 1017464 1017464 T G snp 429.77 0/1 99 250 187 63 0.25 exonic rs112874139 MUC6 AU nonsynonymous SNV NM_005961 exon31 c.A5337C p.R1779S 0.0685 0.0526 1 T 1 N -1.070 T 0.096 T 0.1 T Pathogenic 11_1017466_T->C 11 1017466 1017466 T C snp 240.77 0/1 99 250 207 43 0.17 exonic rs201054567 MUC6 AU nonsynonymous SNV NM_005961 exon31 c.A5335G p.R1779G 0.2108 0.1312 0.55 T 1 N -0.935 T 0.025 T 0.04 T Pathogenic 11_1017470_G->T 11 1017470 1017470 G T snp 651.77 0/1 99 249 206 43 0.17 exonic rs75533660 MUC6 AU synonymous SNV NM_005961 exon31 c.C5331A p.G1777G 0.2443 0.1597 Uncertain 11_1017483_T->G 11 1017483 1017483 T G snp 904.77 0/1 99 250 190 60 0.24 exonic rs79986665 MUC6 AU nonsynonymous SNV NM_005961 exon31 c.A5318C p.H1773P 0.2237 0.1412 0.39 T 1 N -0.941 T 0.015 T 0.01 T Pathogenic 11_1017514_A->G 11 1017514 1017514 A G snp 2426.77 0/1 99 249 139 110 0.44 exonic rs79037833 MUC6 AU nonsynonymous SNV NM_005961 exon31 c.T5287C p.S1763P 0.4520 0.4209 0.48 T 1 N -0.995 T 0.025 T 0.016 T Pathogenic 11_1017529_G->A 11 1017529 1017529 G A snp 220.77 0/1 99 250 217 33 0.13 exonic rs200644196 MUC6 AU nonsynonymous SNV NM_005961 exon31 c.C5272T p.H1758Y 0.0043 0.0030 0.67 T 1 N -1.028 T 0.993 D 0.968 D Pathogenic 11_1017552_T->C 11 1017552 1017552 T C snp 364.77 0/1 99 250 223 27 0.11 exonic rs35868469 MUC6 AU nonsynonymous SNV NM_005961 exon31 c.A5249G p.H1750R 0.065824 0.1204 0.2141 0.37 T 1 N -1.134 T 0.967 D 0.835 D Pathogenic 11_1017556_G->A 11 1017556 1017556 G A snp 58.77 0/1 87 250 221 29 0.12 exonic rs77815355 MUC6 AU synonymous SNV NM_005961 exon31 c.C5245T p.L1749L 0.0005 0.0006 Uncertain 11_1017575_C->T 11 1017575 1017575 C T snp 331.77 0/1 99 249 215 34 0.14 exonic rs76222533 MUC6 AU synonymous SNV NM_005961 exon31 c.G5226A p.T1742T 0.000199681 0.0326 0.0159 Uncertain 11_1017591_C->G 11 1017591 1017591 C G snp 45.77 0/1 74 245 216 29 0.12 exonic rs200995870 MUC6 AU nonsynonymous SNV NM_005961 exon31 c.G5210C p.R1737P 0.0003 0.0002 0.31 T 1 N -1.024 T 0.018 T 0.001 T Pathogenic 11_1017596_T->G 11 1017596 1017596 T G snp 548.77 0/1 99 248 212 36 0.15 exonic rs201522029 MUC6 AU nonsynonymous SNV NM_005961 exon31 c.A5205C p.Q1735H 0.126398 0.1786 0.041118 0.1315 0.2311 0.12 T 1 N -1.055 T 0.996 D 0.964 D Pathogenic 11_1017640_T->G 11 1017640 1017640 T G snp 544.77 0/1 99 248 213 35 0.14 exonic rs199636532 MUC6 AU nonsynonymous SNV NM_005961 exon31 c.A5161C p.T1721P 0.26 T 1 N -1.044 T 0.404 T 0.013 T Pathogenic 11_1017650_G->A 11 1017650 1017650 G A snp 784.77 0/1 99 249 189 60 0.24 exonic rs200263496 MUC6 AU synonymous SNV NM_005961 exon31 c.C5151T p.N1717N 3.346e-05 0 Uncertain 11_1017655_G->A 11 1017655 1017655 G A snp 77.77 0/1 99 249 221 28 0.11 exonic rs201234174 MUC6 AU nonsynonymous SNV NM_005961 exon31 c.C5146T p.P1716S 0.1201 0.2181 0.54 T 1 N -0.954 T 0.001 T 0.0 T Pathogenic 11_1017679_A->G 11 1017679 1017679 A G snp 1579.77 0/1 99 250 178 72 0.29 exonic rs111294390 MUC6 AU nonsynonymous SNV NM_005961 exon31 c.T5122C p.S1708P 0.0001 0 0.28 T 1 N -1.052 T 0.0 T 0.0 T Pathogenic 11_1017684_G->A 11 1017684 1017684 G A snp 1345.77 0/1 99 250 181 69 0.28 exonic rs112886536 MUC6 AU nonsynonymous SNV NM_005961 exon31 c.C5117T p.A1706V 0.005010 0.0001 0 0.22 T 1 N -0.998 T 0.001 T 0.0 T Pathogenic 11_1017691_C->G 11 1017691 1017691 C G snp 2721.77 0/1 99 250 147 103 0.41 exonic rs772446159 MUC6 AU nonsynonymous SNV NM_005961 exon31 c.G5110C p.A1704P 0.4901 0.4890 0.21 T 1 N -1.007 T 0.0 T 0.0 T Pathogenic 11_1017693_T->A 11 1017693 1017693 T A snp 400.77 0/1 99 250 217 33 0.13 exonic rs201170078 MUC6 AU nonsynonymous SNV NM_005961 exon31 c.A5108T p.H1703L 6.628e-05 0 0.65 T 1 N -0.974 T 0.003 T 0.0 T Pathogenic 11_1017710_G->T 11 1017710 1017710 G T snp 727.77 0/1 99 250 208 42 0.17 exonic rs113964902 MUC6 AU nonsynonymous SNV NM_005961 exon31 c.C5091A p.H1697Q 0.017470 0.0004 0 0.97 T 1 N -1.052 T 0.0 T 0.0 T Pathogenic 11_1017744_T->C 11 1017744 1017744 T C snp 133.77 0/1 99 250 217 33 0.13 exonic rs200243990 MUC6 AU nonsynonymous SNV NM_005961 exon31 c.A5057G p.N1686S 0.1333 0.1645 1 T 1 N -0.968 T 0.0 T 0.0 T Pathogenic 11_1017746_T->G 11 1017746 1017746 T G snp 2925.77 0/1 99 250 140 110 0.44 exonic rs748472760 MUC6 AU nonsynonymous SNV NM_005961 exon31 c.A5055C p.L1685F 0.4079 0.3951 0.4 T 1 N -0.947 T 0.0 T 0.0 T Pathogenic 11_1017767_G->C 11 1017767 1017767 G C snp 1201.77 0/1 99 250 191 59 0.24 exonic rs75637734 MUC6 AU synonymous SNV NM_005961 exon31 c.C5034G p.T1678T 0.2846 0.2729 Uncertain 11_1017773_G->A 11 1017773 1017773 G A snp 1250.77 0/1 99 250 179 71 0.28 exonic rs57384288 MUC6 AU synonymous SNV NM_005961 exon31 c.C5028T p.S1676S 0.296725 0.3165 0.3043 0.3818 Uncertain 11_1017783_A->G 11 1017783 1017783 A G snp 2748.77 0/1 99 250 144 106 0.42 exonic rs36101709 MUC6 AU nonsynonymous SNV NM_005961 exon31 c.T5018C p.L1673P 0.28734 0.2996 0.3957 0.4419 0.33 T 1 N -1.030 T 0.0 T 0.0 T Pathogenic 11_1017789_A->C 11 1017789 1017789 A C snp 225.77 0/1 99 249 219 30 0.12 exonic rs78819924 MUC6 AU nonsynonymous SNV NM_005961 exon31 c.T5012G p.M1671R 0.4945 0.4917 0.68 T 1 N -0.955 T 0.071 T 0.008 T CLINSIG=untested;CLNDBN=Malignant_melanoma;CLNREVSTAT=no_assertion_provided;CLNACC=RCV000069128.2;CLNDSDB=MedGen:SNOMED_CT;CLNDSDBID=C0025202:2092003 Pathogenic 11_1017793_T->G 11 1017793 1017793 T G snp 810.77 0/1 99 249 198 51 0.2 exonic rs768584412 MUC6 AU nonsynonymous SNV NM_005961 exon31 c.A5008C p.T1670P 0.0264 0.0224 0.25 T 1 N -0.953 T 0.0 T 0.0 T Pathogenic 11_1017797_C->G 11 1017797 1017797 C G snp 904.77 0/1 99 249 191 58 0.23 exonic rs761906312 MUC6 AU synonymous SNV NM_005961 exon31 c.G5004C p.A1668A 0.0271 0.0234 Uncertain 11_1017833_C->T 11 1017833 1017833 C T snp 588.77 0/1 99 250 209 41 0.16 exonic rs373775476 MUC6 AU synonymous SNV NM_005961 exon31 c.G4968A p.P1656P 0.0167 0.0247 Uncertain 11_1017834_G->A 11 1017834 1017834 G A snp 790.77 0/1 99 250 203 47 0.19 exonic rs201440145 MUC6 AU nonsynonymous SNV NM_005961 exon31 c.C4967T p.P1656L 0.000847 0.0006 0 0.2 T 1 N -1.025 T 0.469 P 0.161 P Pathogenic 11_1017844_T->C 11 1017844 1017844 T C snp 145.77 0/1 99 250 227 23 0.09 exonic rs200752571 MUC6 AU nonsynonymous SNV NM_005961 exon31 c.A4957G p.I1653V 0.0064 0.0097 0.99 T 1 N -1.002 T 0.261 T 0.156 T Pathogenic 11_1017845_C->G 11 1017845 1017845 C G snp 3047.77 0/1 99 250 132 118 0.47 exonic rs745451720 MUC6 AU synonymous SNV NM_005961 exon31 c.G4956C p.T1652T 0.4944 0.4912 Uncertain 11_1017858_A->G 11 1017858 1017858 A G snp 2610.77 0/1 99 250 150 100 0.4 exonic rs762340951 MUC6 AU nonsynonymous SNV NM_005961 exon31 c.T4943C p.M1648T 0.4631 0.4508 1 T 1 N -1.071 T 0.014 T 0.014 T Pathogenic 11_1017883_C->A 11 1017883 1017883 C A snp 1194.77 0/1 99 250 179 71 0.28 exonic rs746969419 MUC6 AU nonsynonymous SNV NM_005961 exon31 c.G4918T p.A1640S 0.24381 0.1954 0.1127 0.0878 0.85 T 1 N -1.054 T 0.261 T 0.294 T Pathogenic 11_1017892_C->G 11 1017892 1017892 C G snp 347.77 0/1 99 246 206 40 0.16 exonic rs75500881 MUC6 AU nonsynonymous SNV NM_005961 exon31 c.G4909C p.A1637P 0.375 0.2937 0.0082 0.0045 0.4 T 1 N -0.992 T 0.296 T 0.124 T Pathogenic 11_1017893_A->G 11 1017893 1017893 A G snp 1204.77 0/1 99 249 184 65 0.26 exonic rs76078620 MUC6 AU synonymous SNV NM_005961 exon31 c.T4908C p.H1636H 0.375 0.2937 0.4769 0.4856 Uncertain 11_1017921_C->A 11 1017921 1017921 C A snp 285.77 0/1 99 247 214 33 0.13 exonic rs112301388 MUC6 AU nonsynonymous SNV NM_005961 exon31 c.G4880T p.S1627I 0.4489 0.4859 0.08 T 1 N -1.006 T 0.272 T 0.153 T Pathogenic 11_1017932_C->T 11 1017932 1017932 C T snp 231.77 0/1 99 245 219 26 0.11 exonic rs758611060 MUC6 AU synonymous SNV NM_005961 exon31 c.G4869A p.L1623L 0.0030 0.0005 Uncertain 11_1017933_A->G 11 1017933 1017933 A G snp 482.77 0/1 99 247 212 35 0.14 exonic rs763930583 MUC6 AU nonsynonymous SNV NM_005961 exon31 c.T4868C p.L1623S 0.0031 0.0005 1 T 1 N -1.046 T 0.784 T 0.443 P Pathogenic 11_1017935_A->G 11 1017935 1017935 A G snp 785.77 0/1 99 245 166 79 0.32 exonic rs138784536 MUC6 AU synonymous SNV NM_005961 exon31 c.T4866C p.S1622S 0.4739 0.4789 Uncertain 11_1017941_G->T 11 1017941 1017941 G T snp 386.77 0/1 99 249 215 34 0.14 exonic rs61869007 MUC6 AU synonymous SNV NM_005961 exon31 c.C4860A p.S1620S 0.4524 0.4900 Uncertain 11_1017963_G->A 11 1017963 1017963 G A snp 893.77 0/1 99 248 203 45 0.18 exonic rs61869008 MUC6 AU nonsynonymous SNV NM_005961 exon31 c.C4838T p.P1613L 0.4564 0.4906 0.21 T 1 N -1.000 T 0.411 T 0.118 T Pathogenic 11_1017968_T->A 11 1017968 1017968 T A snp 883.77 0/1 99 250 200 50 0.2 exonic rs61869009 MUC6 AU synonymous SNV NM_005961 exon31 c.A4833T p.T1611T 0.4629 0.4918 Uncertain 11_1017981_T->A 11 1017981 1017981 T A snp 1225.77 0/1 99 248 191 57 0.23 exonic rs61869010 MUC6 AU nonsynonymous SNV NM_005961 exon31 c.A4820T p.H1607L 0.4856 0.4976 0.65 T 1 N -0.950 T 0.121 T 0.038 T Pathogenic 11_1017988_G->T 11 1017988 1017988 G T snp 787.77 0/1 99 249 203 46 0.18 exonic rs112579249 MUC6 AU nonsynonymous SNV NM_005961 exon31 c.C4813A p.P1605T 0.0273 0.0140 0.29 T 1 N -1.034 T 0.998 D 0.981 D Pathogenic 11_1018012_T->G 11 1018012 1018012 T G snp 2444.77 0/1 99 247 154 93 0.38 exonic rs10751676 MUC6 AU nonsynonymous SNV NM_005961 exon31 c.A4789C p.K1597Q 0.2644 0.2583 0.45 T 1 N -0.992 T 0.04 T 0.035 T Pathogenic 11_1018024_C->G 11 1018024 1018024 C G snp 824.77 0/1 99 228 181 47 0.21 exonic rs766179928 MUC6 AU nonsynonymous SNV NM_005961 exon31 c.G4777C p.A1593P 0.2670 0.2849 0.23 T 1 N -1.034 T 0.141 T 0.088 T Pathogenic 11_1018025_C->A 11 1018025 1018025 C A snp 3153.77 0/1 99 218 92 126 0.58 exonic rs10751677 MUC6 AU synonymous SNV NM_005961 exon31 c.G4776T p.T1592T 0.3458 0.3537 Uncertain 11_1018031_G->A 11 1018031 1018031 G A snp 2791.77 0/1 99 207 98 109 0.53 exonic rs10751678 MUC6 AU synonymous SNV NM_005961 exon31 c.C4770T p.P1590P 0.3206 0.3276 Uncertain 11_1018042_A->G 11 1018042 1018042 A G snp 916.77 0/1 99 197 149 48 0.24 exonic rs200364398 MUC6 AU nonsynonymous SNV NM_005961 exon31 c.T4759C p.S1587P 0.3067 0.3261 0.18 T 1 N -1.025 T 0.963 D 0.91 D Pathogenic 11_1018048_A->G 11 1018048 1018048 A G snp 1042.77 0/1 99 188 127 61 0.32 exonic rs12787400 MUC6 AU nonsynonymous SNV NM_005961 exon31 c.T4753C p.F1585L 0.3537 0.3626 0.67 T 1 N -0.947 T 0.01 T 0.027 T Pathogenic 11_1018059_C->T 11 1018059 1018059 C T snp 1118.77 0/1 99 188 131 57 0.3 exonic rs751258364 MUC6 AU nonsynonymous SNV NM_005961 exon31 c.G4742A p.G1581E 0.3718 0.3759 0.38 T 1 N -0.998 T 0.0 T 0.0 T Pathogenic 11_1018116_T->G 11 1018116 1018116 T G snp 1567.77 0/1 99 216 144 72 0.33 exonic rs10902269 MUC6 AU nonsynonymous SNV NM_005961 exon31 c.A4685C p.N1562T 0.4677 0.4537 1 T 1 N -0.956 T 0.0 T 0.0 T Pathogenic 11_1018138_T->C 11 1018138 1018138 T C snp 1283.77 0/1 99 207 146 61 0.29 exonic rs71454075 MUC6 AU nonsynonymous SNV NM_005961 exon31 c.A4663G p.R1555G 0.000199681 0.2953 0.2504 0.42 T 1 N -0.958 T 0.0 T 0.0 T Pathogenic 11_1018144_G->C 11 1018144 1018144 G C snp 1356.77 0/1 99 204 140 64 0.31 exonic rs12807084 MUC6 AU nonsynonymous SNV NM_005961 exon31 c.C4657G p.R1553G 0.000199681 0.2807 0.2341 0.4 T 1 N -0.972 T 0.0 T 0.0 T Pathogenic 11_1018169_C->G 11 1018169 1018169 C G snp 1316.77 0/1 99 207 143 64 0.31 exonic rs752023552 MUC6 AU synonymous SNV NM_005961 exon31 c.G4632C p.T1544T 0.1332 0.1005 Uncertain 11_1018175_A->G 11 1018175 1018175 A G snp 1420.77 0/1 99 211 139 72 0.34 exonic rs12418172 MUC6 AU synonymous SNV NM_005961 exon31 c.T4626C p.T1542T 0.000599042 0.1971 0.1845 Uncertain 11_1018182_G->T 11 1018182 1018182 G T snp 1063.77 0/1 99 226 164 62 0.27 exonic rs778843534 MUC6 AU nonsynonymous SNV NM_005961 exon31 c.C4619A p.T1540N 0.0691 0.0480 0.39 T 1 N -0.980 T 0.099 T 0.054 T Pathogenic 11_1018186_G->T 11 1018186 1018186 G T snp 1034.77 0/1 99 225 166 59 0.26 exonic rs758021128 MUC6 AU nonsynonymous SNV NM_005961 exon31 c.C4615A p.P1539T 0.0666 0.0484 0.78 T 1 N -0.936 T 0.001 T 0.001 T Pathogenic 11_1018192_C->T 11 1018192 1018192 C T snp 1145.77 0/1 99 229 164 65 0.28 exonic rs770600141 MUC6 AU nonsynonymous SNV NM_005961 exon31 c.G4609A p.V1537I 0.0643 0.0464 0.27 T 1 N -1.062 T 0.001 T 0.001 T Pathogenic 11_1018196_A->T 11 1018196 1018196 A T snp 968.77 0/1 99 233 173 60 0.26 exonic rs746456813 MUC6 AU synonymous SNV NM_005961 exon31 c.T4605A p.P1535P 0.0540 0.0381 Uncertain 11_1018216_T->C 11 1018216 1018216 T C snp 339.77 0/1 99 165 140 25 0.15 exonic rs750487578 MUC6 AU nonsynonymous SNV NM_005961 exon31 c.A4585G p.T1529A 0.0003 0 0.37 T 1 N -0.981 T 0.0 T 0.0 T Pathogenic 11_1018217_G->A 11 1018217 1018217 G A snp 314.77 0/1 99 166 141 25 0.15 exonic rs756283051 MUC6 AU synonymous SNV NM_005961 exon31 c.C4584T p.H1528H 0.0003 0 Uncertain 11_1018223_A->G 11 1018223 1018223 A G snp 345.77 0/1 99 160 135 25 0.16 exonic MUC6 AU synonymous SNV NM_005961 exon31 c.T4578C p.H1526H Uncertain 11_1018226_T->G 11 1018226 1018226 T G snp 346.77 0/1 99 157 132 25 0.16 exonic rs748096059 MUC6 AU synonymous SNV NM_005961 exon31 c.A4575C p.L1525L 0.0127 0.0125 Uncertain 11_1018229_C->G 11 1018229 1018229 C G snp 702.77 0/1 99 155 109 46 0.3 exonic rs759562886 MUC6 AU synonymous SNV NM_005961 exon31 c.G4572C p.S1524S 0.3160 0.3556 Uncertain 11_1018232_G->T 11 1018232 1018232 G T snp 669.77 0/1 99 150 104 46 0.31 exonic rs113063572 MUC6 AU synonymous SNV NM_005961 exon31 c.C4569A p.T1523T 0.3092 0.3523 Uncertain 11_1018237_G->A 11 1018237 1018237 G A snp 669.77 0/1 99 147 101 46 0.31 exonic rs79892432 MUC6 AU nonsynonymous SNV NM_005961 exon31 c.C4564T p.P1522S 0.3073 0.3535 1 T 1 N -0.995 T 0.0 T 0.0 T Pathogenic 11_1018238_T->G 11 1018238 1018238 T G snp 719.77 0/1 99 147 101 46 0.31 exonic rs745591459 MUC6 AU synonymous SNV NM_005961 exon31 c.A4563C p.T1521T 0.2929 0.3456 Uncertain 11_1018245_T->G 11 1018245 1018245 T G snp 735.77 0/1 99 139 93 46 0.33 exonic rs76423553 MUC6 AU nonsynonymous SNV NM_005961 exon31 c.A4556C p.N1519T 0.3079 0.3527 0.57 T 1 N -0.952 T 0.0 T 0.0 T Pathogenic 11_1018246_T->C 11 1018246 1018246 T C snp 746.77 0/1 99 137 91 46 0.34 exonic rs773867956 MUC6 AU nonsynonymous SNV NM_005961 exon31 c.A4555G p.N1519D 0.3098 0.3541 0.61 T 1 N -0.943 T 0.0 T 0.0 T Pathogenic 11_1018255_A->T 11 1018255 1018255 A T snp 278.77 0/1 99 130 108 22 0.17 exonic MUC6 AU nonsynonymous SNV NM_005961 exon31 c.T4546A p.F1516I 0.42 T 1 N -0.963 T 0.012 T 0.003 T Pathogenic 11_1018262_G->C 11 1018262 1018262 G C snp 44.77 0/1 73 123 102 21 0.17 exonic rs755204080 MUC6 AU nonsynonymous SNV NM_005961 exon31 c.C4539G p.H1513Q 0.3087 0.3488 0.6 T 1 N -0.965 T 0.023 T 0.009 T Pathogenic 11_1018263_T->G 11 1018263 1018263 T G snp 77.77 0/1 99 122 101 21 0.17 exonic rs752395680 MUC6 AU nonsynonymous SNV NM_005961 exon31 c.A4538C p.H1513P 0.2428 0.2770 0.4 T 1 N -0.936 T 0.0 T 0.0 T Pathogenic 11_1018275_G->A 11 1018275 1018275 G A snp 311.77 0/1 99 112 91 21 0.19 exonic rs200995469 MUC6 AU nonsynonymous SNV NM_005961 exon31 c.C4526T p.T1509I 0.68 T 1 N -0.965 T 0.002 T 0.002 T Pathogenic 11_1018279_C->T 11 1018279 1018279 C T snp 414.77 0/1 99 109 85 24 0.22 exonic rs201852389 MUC6 AU nonsynonymous SNV NM_005961 exon31 c.G4522A p.G1508R 0.0003 0.0001 0.21 T 1 N -0.988 T 0.001 T 0.001 T Pathogenic 11_1018289_C->T 11 1018289 1018289 C T snp 241.77 0/1 99 96 78 18 0.19 exonic rs761321771 MUC6 AU synonymous SNV NM_005961 exon31 c.G4512A p.P1504P 4.141e-05 0.0001 Uncertain 11_1018291_G->C 11 1018291 1018291 G C snp 238.77 0/1 99 96 78 18 0.19 exonic rs759694093 MUC6 AU nonsynonymous SNV NM_005961 exon31 c.C4510G p.P1504A 0.0003 0.0001 1 T 1 N -1.063 T 0.0 T 0.0 T Pathogenic 11_1018295_T->C 11 1018295 1018295 T C snp 549.77 0/1 99 91 53 38 0.42 exonic rs73403297 MUC6 AU nonsynonymous SNV NM_005961 exon31 c.A4506G p.I1502M 0.4872 0.4863 0.25 T 1 N -0.997 T 0.005 T 0.003 T Pathogenic 11_1018299_G->A 11 1018299 1018299 G A snp 240.77 0/1 99 87 69 18 0.21 exonic rs200809011 MUC6 AU nonsynonymous SNV NM_005961 exon31 c.C4502T p.P1501L 0.0003 0.0001 1 T 1 N -0.983 T 0.59 P 0.111 P Pathogenic 11_1018312_G->A 11 1018312 1018312 G A snp 188.77 0/1 99 71 57 14 0.2 exonic MUC6 AU nonsynonymous SNV NM_005961 exon31 c.C4489T p.H1497Y 0.05 T 1 N -1.061 T 0.963 D 0.425 D Pathogenic 11_1018316_G->A 11 1018316 1018316 G A snp 44.77 0/1 73 65 52 13 0.2 exonic rs201954368 MUC6 AU synonymous SNV NM_005961 exon31 c.C4485T p.S1495S 0.3358 0.4168 Uncertain 11_1018321_C->T 11 1018321 1018321 C T snp 213.77 0/1 99 61 47 14 0.23 exonic MUC6 AU nonsynonymous SNV NM_005961 exon31 c.G4480A p.G1494R 0.45 T 1 N -0.957 T 0.0 T 0.001 T Pathogenic 11_1018374_T->A 11 1018374 1018374 T A snp 389.77 0/1 99 26 10 16 0.62 exonic rs7396383 MUC6 AU nonsynonymous SNV NM_005961 exon31 c.A4427T p.N1476I 0.705272 0.5942 0.740031 0.7559 0.6512 0.2 T 0.0 P -1.041 T 0.0 T 0.0 T Pathogenic 11_1018385_T->A 11 1018385 1018385 T A snp 85.77 0/1 99 31 22 9 0.29 exonic rs7396380 MUC6 AU synonymous SNV NM_005961 exon31 c.A4416T p.T1472T 0.1911 0.1911 Uncertain 11_1018456_G->A 11 1018456 1018456 G A snp 143.77 0/1 99 76 61 15 0.2 exonic rs748348388 MUC6 AU nonsynonymous SNV NM_005961 exon31 c.C4345T p.P1449S 0.4915 0.4980 0.85 T 1 N -0.981 T 0.001 T 0.001 T Pathogenic 11_1018483_C->G 11 1018483 1018483 C G snp 105.77 0/1 99 101 85 16 0.16 exonic rs774418927 MUC6 AU nonsynonymous SNV NM_005961 exon31 c.G4318C p.E1440Q 0.4921 0.4947 0.81 T 1 N -0.938 T 0.001 T 0.001 T Pathogenic 11_1018496_G->T 11 1018496 1018496 G T snp 96.77 0/1 99 108 93 15 0.14 exonic rs67341709 MUC6 AU synonymous SNV NM_005961 exon31 c.C4305A p.T1435T 0.4860 0.4867 Uncertain 11_1018523_A->G 11 1018523 1018523 A G snp 100.77 0/1 99 115 101 14 0.12 exonic rs73403301 MUC6 AU synonymous SNV NM_005961 exon31 c.T4278C p.S1426S 0.4568 0.4559 Uncertain 11_1019375_C->T 11 1019375 1019375 C T snp 4214.77 1/1 99 160 0 160 1.0 exonic rs9704308 MUC6 AU synonymous SNV NM_005961 exon30 c.G3930A p.A1310A 0.923323 0.881 0.943852 0.9156 0.8680 Uncertain 11_1023682_G->A 11 1023682 1023682 G A snp 118.77 0/1 99 10 5 5 0.5 intronic rs72842416 MUC6 AU NM_005961 exon8 c.10197+30G>A 0.18131 0.2897 0.113704 0.1628 0.3005 Uncertain 11_1031395_G->C 11 1031395 1031395 G C snp 40.77 0/1 69 5 3 2 0.4 intronic rs56263729 MUC6 AU NM_005961 exon29 c.17804+136G>C 0.711062 0.5893 Uncertain 11_1075747_T->C 11 1075747 1075747 T C snp 2984.77 0/1 99 250 133 117 0.47 exonic rs2856111 MUC2 AU nonsynonymous SNV NM_002457 exon2 c.T173C p.L58P 0.271366 0.4375 0.197262 0.1906 0.4899 0.11 T 0.999 P -0.994 T 0.997 D 0.986 D Pathogenic 11_1075769_C->T 11 1075769 1075769 C T snp 2991.77 0/1 99 250 141 109 0.44 exonic rs771628651 MUC2 AU synonymous SNV NM_002457 exon2 c.C195T p.S65S 3.21e-05 0 Uncertain 11_1077446_C->G 11 1077446 1077446 C G snp 46.77 0/1 33 4 1 3 0.75 intronic rs34533432 MUC2 AU NM_002457 exon3 c.2696-151C>G 0.2502 0.2014 Uncertain 11_1077493_C->T 11 1077493 1077493 C T snp 509.77 0/1 99 29 13 16 0.55 intronic rs34367348 MUC2 AU NM_002457 exon3 c.2696-104C>T 0.351837 0.4385 Uncertain 11_1078393_T->C 11 1078393 1078393 T C snp 3227.04 0/1 99 246 114 132 0.54 intronic rs7104590 MUC2 AU NM_002457 exon5 c.3475+17T>C 0.436102 0.4435 0.444248 0.3334 0.4879 Uncertain 11_1078752_C->T 11 1078752 1078752 C T snp 127.77 0/1 64 8 2 6 0.75 intronic rs41500945 MUC2 AU NM_002457 exon6 c.3765+86C>T 0.271366 0.4028 Uncertain 11_1078784_C->T 11 1078784 1078784 C T snp 56.74 1/1 6 2 0 2 1.0 intronic rs186665652 MUC2 AU NM_002457 exon6 c.3765+118C>T 0.11262 0.1558 Uncertain 11_1078789_C->A 11 1078789 1078789 C A snp 46.74 1/1 6 2 0 2 1.0 intronic MUC2 AU NM_002457 exon6 c.3765+123C>A Uncertain 11_1078797_T->G 11 1078797 1078797 T G snp 56.74 1/1 6 2 0 2 1.0 intronic rs145976877 MUC2 AU NM_002457 exon6 c.3765+131T>G Uncertain 11_1078798_T->G 11 1078798 1078798 T G snp 56.74 1/1 6 2 0 2 1.0 intronic rs80306529 MUC2 AU NM_002457 exon6 c.3765+132T>G Uncertain 11_1078809_A->G 11 1078809 1078809 A G snp 56.74 1/1 6 2 0 2 1.0 intronic rs111371595 MUC2 AU NM_002457 exon6 c.3765+143A>G Uncertain 11_1078822_C->A 11 1078822 1078822 C A snp 48.74 1/1 6 2 0 2 1.0 intronic rs373657711 MUC2 AU NM_002457 exon6 c.3765+156C>A Uncertain 11_1079534_A->G 11 1079534 1079534 A G snp 309.78 1/1 24 8 0 8 1.0 intronic rs111533158 MUC2 AU NM_002457 exon7 c.4756-123A>G 0.360024 0.3472 Uncertain 11_1079879_T->C 11 1079879 1079879 T C snp 227.77 0/1 99 19 10 9 0.47 intronic rs7127117 MUC2 AU NM_002457 exon7 c.4882+96T>C 0.517971 0.4028 Uncertain 11_1080164_G->A 11 1080164 1080164 G A snp 686.77 0/1 99 60 34 26 0.43 intronic rs11245926 MUC2 AU NM_002457 exon8 c.5379-116G>A 0.216054 0.3224 Uncertain 11_1080576_G->A 11 1080576 1080576 G A snp 956.77 0/1 99 94 56 38 0.4 exonic rs41349846 MUC2 AU synonymous SNV NM_002457 exon9 c.G1218A p.T406T 0.266374 0.3393 0.138831 0.1841 0.3653 Uncertain 11_1081074_T->C 11 1081074 1081074 T C snp 2349.77 0/1 99 206 109 97 0.47 exonic rs41411848 MUC2 AU nonsynonymous SNV NM_002457 exon11 c.T1370C p.V457A 0.36262 0.372 0.264749 0.2765 0.4022 0.17 T 0.288 P -0.958 T 0.41 T 0.349 T Pathogenic 11_1081112_G->C 11 1081112 1081112 G C snp 1902.77 0/1 99 169 87 82 0.49 exonic rs41345745 MUC2 AU nonsynonymous SNV NM_002457 exon11 c.G1408C p.E470Q 0.36222 0.376 0.262589 0.2740 0.4034 0.52 T 0.000 P -0.958 T 0.315 T 0.378 T Pathogenic 11_1081151_T->C 11 1081151 1081151 T C snp 1420.77 0/1 99 123 64 59 0.48 intronic rs41464048 MUC2 AU NM_002457 exon11 c.6241+9T>C 0.369808 0.3919 0.265103 0.2768 0.4102 Uncertain 11_1081351_A->G 11 1081351 1081351 A G snp 1052.77 0/1 99 63 25 38 0.6 intronic rs10902082 MUC2 AU NM_002457 exon12 c.6519-69A>G 0.365216 0.376 Uncertain 11_1081381_A->G 11 1081381 1081381 A G snp 1675.77 0/1 99 117 50 67 0.57 intronic rs10902083 MUC2 AU NM_002457 exon12 c.6519-39A>G 0.368011 0.376 0.268474 0.2737 0.4013 Uncertain 11_1081392_T->C 11 1081392 1081392 T C snp 1806.77 0/1 99 135 60 75 0.56 intronic rs10902084 MUC2 AU NM_002457 exon12 c.6519-28T>C 0.376398 0.3919 0.276181 0.2811 0.4105 Uncertain 11_1081577_G->A 11 1081577 1081577 G A snp 3045.77 0/1 99 249 126 123 0.49 intronic rs12416873 MUC2 AU NM_002457 exon12 c.6657+19G>A 0.361422 0.376 0.265041 0.2781 0.4084 Uncertain 11_1081757_G->C 11 1081757 1081757 G C snp 1388.77 0/1 99 130 73 57 0.44 exonic rs57737240 MUC2 AU nonsynonymous SNV NM_002457 exon13 c.G1685C p.S562T 0.367013 0.3889 0.266432 0.2794 0.4124 1 T 0.0 P -0.928 T 0.119 T 0.119 T Pathogenic 11_1082419_G->A 11 1082419 1082419 G A snp 1192.77 0/1 99 141 86 55 0.39 intronic rs11820653 MUC2 AU NM_002457 exon14 c.7480+38G>A 0.366813 0.3919 0.255456 0.3022 0.4440 Uncertain 11_1082520_A->G 11 1082520 1082520 A G snp 2311.77 0/1 99 198 102 96 0.48 intronic rs11245930 MUC2 AU NM_002457 exon15 c.7686-67A>G 0.367612 0.3919 Uncertain 11_1082533_G->A 11 1082533 1082533 G A snp 2396.77 0/1 99 208 103 105 0.5 intronic rs41343848 MUC2 AU NM_002457 exon15 c.7686-54G>A 0.367612 0.3919 Uncertain 11_1082819_C->T 11 1082819 1082819 C T snp 162.78 0/1 24 7 1 6 0.86 intronic rs41420644 MUC2 AU NM_002457 exon15 c.7813+105C>T 0.304513 0.3423 Uncertain 11_1083293_T->C 11 1083293 1083293 T C snp 1433.77 0/1 99 126 61 65 0.52 exonic rs7394853 MUC2 AU synonymous SNV NM_002457 exon16 c.T2193C p.D731D 0.371406 0.3919 0.269737 0.2804 0.4132 Uncertain 11_1083364_G->A 11 1083364 1083364 G A snp 474.77 0/1 99 38 17 21 0.55 intronic rs7396030 MUC2 AU NM_002457 exon16 c.8418+45G>A 0.372005 0.3909 0.262032 0.2775 0.4103 Uncertain 11_1083495_G->T 11 1083495 1083495 G T snp 311.77 0/1 99 18 6 12 0.67 intronic rs11245933 MUC2 AU NM_002457 exon17 c.8648-54G>T 0.366214 0.3919 0.242794 Uncertain 11_1083700_C->T 11 1083700 1083700 C T snp 694.77 0/1 99 49 21 28 0.57 intronic rs11245934 MUC2 AU NM_002457 exon18 c.8839-40C>T 0.371206 0.3919 0.263145 0.3091 0.4493 Uncertain 11_1084144_C->T 11 1084144 1084144 C T snp 195.77 0/1 99 9 3 6 0.67 intronic rs55668297 MUC2 AU NM_002457 exon19 c.9340-97C>T 0.338059 0.3909 Uncertain 11_1084821_T->C 11 1084821 1084821 T C snp 3334.77 0/1 99 249 119 130 0.52 exonic rs10794288 MUC2 AU synonymous SNV NM_002457 exon20 c.T2616C p.D872D 0.338858 0.3919 0.269213 0.3343 0.4727 Uncertain 11_1085806_T->C 11 1085806 1085806 T C snp 41.77 0/1 70 244 210 34 0.14 exonic MUC2 AU synonymous SNV NM_002457 exon21 c.T2727C p.C909C Uncertain 11_1085845_C->T 11 1085845 1085845 C T snp 40.77 0/1 69 248 214 34 0.14 exonic MUC2 AU synonymous SNV NM_002457 exon21 c.C2766T p.I922I Uncertain 11_1085849_A->C 11 1085849 1085849 A C snp 75.77 0/1 99 250 213 37 0.15 exonic rs78295742 MUC2 AU nonsynonymous SNV NM_002457 exon21 c.A2770C p.M924L 1 T 1 N -0.993 T 0.004 T 0.0 T Pathogenic 11_1086576_-->TG 11 1086576 1086576 - TG indel 798.73 0/1 99 32 13 19 0.59 intronic rs10648591 MUC2 AU NM_002457 exon23 c.11585+90insTG 0.258387 0.3105 Uncertain 11_1086579_A->G 11 1086579 1086579 A G snp 295.77 0/1 99 29 13 16 0.55 intronic rs10528977 MUC2 AU NM_002457 exon23 c.11585+93A>G Uncertain 11_1087410_G->C 11 1087410 1087410 G C snp 977.77 0/1 99 70 31 39 0.56 intronic rs10751639 MUC2 AU NM_002457 exon24 c.12543-34G>C 0.316693 0.3889 0.234707 0.2553 0.4101 Uncertain 11_1087972_C->T 11 1087972 1087972 C T snp 2852.77 0/1 99 238 123 115 0.48 exonic rs10902088 MUC2 AU synonymous SNV NM_002457 exon25 c.C3447T p.N1149N 0.327676 0.3899 0.245533 0.2635 0.4185 Uncertain 11_1093296_T->C 11 1093296 1093296 T C snp 75.77 0/1 99 24 18 6 0.25 exonic rs56068864 MUC2 AU synonymous SNV NM_002457 exon30 c.T5115C p.T1705T 0.0134 0.0065 Uncertain 11_1093311_C->A 11 1093311 1093311 C A snp 130.77 0/1 99 64 53 11 0.17 exonic rs780407383 MUC2 AU synonymous SNV NM_002457 exon30 c.C5130A p.T1710T 0.0012 0.0113 Uncertain 11_1093354_T->A 11 1093354 1093354 T A snp 751.77 0/1 99 182 88 94 0.52 exonic rs56290335 MUC2 AU nonsynonymous SNV NM_002457 exon30 c.T5173A p.S1725T 0.0038 0.0118 0.8 T 1 N -0.957 T 0.0 T 0.0 T Pathogenic 11_1093393_G->A 11 1093393 1093393 G A snp 41.77 0/1 70 249 212 37 0.15 exonic rs199525790 MUC2 AU nonsynonymous SNV NM_002457 exon30 c.G5212A p.G1738S 0.0233 0.0446 0.62 T 1 N -1.023 T 0.001 T 0.0 T Pathogenic 11_1093412_C->T 11 1093412 1093412 C T snp 98.77 0/1 99 250 220 30 0.12 exonic rs113330607 MUC2 AU nonsynonymous SNV NM_002457 exon30 c.C5231T p.T1744M 0.2570 0.2099 0.09 T 1 N -0.962 T 0.878 T 0.05 P Pathogenic 11_1093430_C->A 11 1093430 1093430 C A snp 216.77 0/1 99 249 195 54 0.22 exonic rs199573018 MUC2 AU nonsynonymous SNV NM_002457 exon30 c.C5249A p.T1750N 0.375998 0.3621 0.3944 0.4201 0.09 T 1 N -0.965 T 0.001 T 0.003 T Pathogenic 11_1093452_G->A 11 1093452 1093452 G A snp 1333.77 0/1 99 225 119 106 0.47 exonic rs34136803 MUC2 AU synonymous SNV NM_002457 exon30 c.G5271A p.P1757P 0.2969 0.2656 Uncertain 11_1093512_C->A 11 1093512 1093512 C A snp 867.77 0/1 99 132 91 41 0.31 exonic rs34493663 MUC2 AU synonymous SNV NM_002457 exon30 c.C5331A p.T1777T 0.3765 0.3495 Uncertain 11_1093569_A->C 11 1093569 1093569 A C snp 445.77 0/1 99 114 81 33 0.29 exonic rs72842460 MUC2 AU synonymous SNV NM_002457 exon30 c.A5388C p.T1796T 0.0566 0.0350 Uncertain 11_1093575_G->C 11 1093575 1093575 G C snp 139.77 0/1 99 119 97 22 0.18 exonic rs201450769 MUC2 AU synonymous SNV NM_002457 exon30 c.G5394C p.T1798T 0.0318 0.0284 Uncertain 11_1093582_G->C 11 1093582 1093582 G C snp 280.77 0/1 99 125 95 30 0.24 exonic rs55641679 MUC2 AU nonsynonymous SNV NM_002457 exon30 c.G5401C p.A1801P 0.0422 0.0250 0.29 T 1 N -0.993 T 0.0 T 0.0 T Pathogenic 11_1093600_G->A 11 1093600 1093600 G A snp 921.77 0/1 99 132 85 47 0.36 exonic rs74193969 MUC2 AU nonsynonymous SNV NM_002457 exon30 c.G5419A p.G1807S 0.14397 0.4117 0.027825 0.0912 0.4454 0.72 T 0.000 P -0.959 T 0.0 T 0.0 T Pathogenic 11_1093710_C->G 11 1093710 1093710 C G snp 7083.77 1/1 99 250 0 250 1.0 exonic rs7944723 MUC2 AU synonymous SNV NM_002457 exon31 c.C5517G p.P1839P 0.895767 0.9931 0.858000 0.8260 0.9943 Uncertain 11_1093945_T->C 11 1093945 1093945 T C snp 2490.77 1/1 99 74 0 74 1.0 intronic rs7934606 MUC2 AU NM_002457 exon31 c.19032+12T>C 0.823482 0.9911 0.682773 0.6728 0.9879 Uncertain 11_1094629_T->C 11 1094629 1094629 T C snp 690.77 1/1 51 19 0 19 1.0 intronic rs11245950 MUC2 AU NM_002457 exon32 c.19763-35T>C 0.760783 0.9325 0.604897 0.5838 0.9218 Uncertain 11_1094690_C->T 11 1094690 1094690 C T snp 2530.77 1/1 99 85 0 85 1.0 exonic rs10794291 MUC2 AU synonymous SNV NM_002457 exon32 c.C5766T p.T1922T 0.754792 0.9325 0.596871 0.5992 0.9245 Uncertain 11_1094753_A->C 11 1094753 1094753 A C snp 3825.77 1/1 99 140 0 140 1.0 exonic rs10794292 MUC2 AU synonymous SNV NM_002457 exon32 c.A5829C p.P1943P 0.825679 0.9901 0.679582 0.6707 0.9932 Uncertain 11_1095082_A->C 11 1095082 1095082 A C snp 1881.77 1/1 99 62 1 61 0.98 intronic rs6597999 MUC2 AU NM_002457 exon33 c.20229-48A>C 0.830671 0.9911 0.690868 0.6795 0.9821 Uncertain 11_1096494_T->C 11 1096494 1096494 T C snp 7699.77 1/1 99 249 0 249 1.0 exonic rs6421972 MUC2 AU synonymous SNV NM_002457 exon35 c.T6507C p.C2169C 0.684476 0.6719 0.9927 Uncertain 11_1097975_C->T 11 1097975 1097975 C T snp 828.77 0/1 99 71 36 35 0.49 intronic rs10902090 MUC2 AU NM_002457 exon37 c.23016+58C>T 0.195687 0.3125 Uncertain 11_1098637_A->G 11 1098637 1098637 A G snp 4178.77 1/1 99 157 0 157 1.0 splicing rs12418069 MUC2 AU NM_002457 exon38 c.23739-3A>G 0.813299 0.9911 0.665842 0.7099 0.9918 Pathogenic 11_1100905_G->A 11 1100905 1100905 G A snp 2771.77 1/1 99 85 0 85 1.0 intronic rs7396585 MUC2 AU NM_002457 exon42 c.26092-88G>A 0.60024 0.9911 Uncertain 11_1101649_T->C 11 1101649 1101649 T C snp 3846.77 1/1 99 145 0 145 1.0 exonic rs7480563 MUC2 AU synonymous SNV NM_002457 exon43 c.T7650C p.P2550P 0.697284 0.9931 0.550691 0.5819 0.9917 Uncertain 11_1101864_C->A 11 1101864 1101864 C A snp 944.77 0/1 99 64 25 39 0.61 intronic rs41447547 MUC2 AU NM_002457 exon44 c.27010-47C>A 0.286741 0.5417 0.109334 0.1674 0.5952 Uncertain 11_1103100_C->T 11 1103100 1103100 C T snp 738.77 0/1 99 54 29 25 0.46 intronic rs7106709 MUC2 AU NM_002457 exon47 c.28287-88C>T 0.155351 0.0357 Uncertain 11_1103296_T->C 11 1103296 1103296 T C snp 2979.77 0/1 99 248 133 115 0.46 exonic rs7126405 MUC2 AU synonymous SNV NM_002457 exon47 c.T8034C p.F2678F 0.166334 0.0357 0.182373 0.1137 0.0433 Uncertain 11_1103650_C->A 11 1103650 1103650 C A snp 1188.77 0/1 99 84 34 50 0.6 intronic rs7106039 MUC2 AU NM_002457 exon48 c.28693+56C>A 0.177117 0.0357 0.184754 Uncertain 11_1103786_A->G 11 1103786 1103786 A G snp 1699.77 1/1 99 61 0 61 1.0 intronic rs9988872 MUC2 AU NM_002457 exon49 c.28907-22A>G 0.803315 0.7014 0.914762 0.8341 0.7107 Uncertain 11_1103873_C->T 11 1103873 1103873 C T snp 1532.77 0/1 99 148 81 67 0.45 exonic rs11245957 MUC2 AU synonymous SNV NM_002457 exon49 c.C8160T p.Y2720Y 0.150359 0.0357 0.154172 0.1421 0.0971 Uncertain 11_1103991_G->C 11 1103991 1103991 G C snp 1728.77 0/1 99 159 82 77 0.48 intronic rs41437546 MUC2 AU NM_002457 exon50 c.29142-52G>C 0.155152 0.0357 Uncertain 11_1104123_C->T 11 1104123 1104123 C T snp 1852.77 0/1 99 155 73 82 0.53 exonic rs12270802 MUC2 AU synonymous SNV NM_002457 exon50 c.C8302T p.L2768L 0.155351 0.0357 0.159178 0.0971 0.0429 Uncertain 11_1104296_G->C 11 1104296 1104296 G C snp 709.77 0/1 99 61 29 32 0.52 UTR3 rs7928098 MUC2 AU 0.154752 0.0357 0.162485 0.0976 0.0404 Uncertain 11_1104503_C->T 11 1104503 1104503 C T snp 287.77 0/1 99 26 14 12 0.46 downstream rs7924911 MUC2 AU 0.144968 0.0367 Uncertain 11_1104508_G->A 11 1104508 1104508 G A snp 245.77 0/1 99 23 12 11 0.48 downstream rs7927882 MUC2 AU 0.161342 0.0367 Uncertain 11_1151695_C->T 11 1151695 1151695 C T snp 856.77 0/1 99 71 35 36 0.51 exonic rs28737416 MUC5AC AU unknown 0.384984 0.3155 0.290113 0.2978 0.3120 Uncertain 11_1154073_-->C 11 1154073 1154073 - C indel 132.87 1/1 15 5 0 5 1.0 intronic rs33962059 MUC5AC AU NM_001304359 exon2 c.2601-154insC Uncertain 11_1155008_A->- 11 1155008 1155008 A - indel 280.75 1/1 24 8 0 8 1.0 intronic rs398015175 MUC5AC AU NM_001304359 exon3 c.3517-135delA 0.9998 1 Uncertain 11_1155289_A->G 11 1155289 1155289 A G snp 1412.77 0/1 99 132 73 59 0.45 intronic rs28468624 MUC5AC AU NM_001304359 exon3 c.3577+86A>G 0.394768 0.3155 Uncertain 11_1157476_C->G 11 1157476 1157476 C G snp 2193.77 0/1 99 195 98 97 0.5 intronic rs28707071 MUC5AC AU NM_001304359 exon7 c.5872-22C>G 0.513578 0.3175 0.4912 0.4082 Uncertain 11_1158073_T->C 11 1158073 1158073 T C snp 3171.77 1/1 99 116 0 116 1.0 exonic rs28691231 MUC5AC AU unknown 0.891973 0.997 0.804545 0.8547 0.9963 Uncertain 11_1158834_C->T 11 1158834 1158834 C T snp 90.77 0/1 99 8 3 5 0.63 intronic rs28433367 MUC5AC AU NM_001304359 exon10 c.7325-117C>T 0.486821 0.6825 Uncertain 11_1159133_G->A 11 1159133 1159133 G A snp 503.77 0/1 99 35 17 18 0.51 intronic rs35917282 MUC5AC AU NM_001304359 exon10 c.7443+64G>A 0.497005 0.6825 Uncertain 11_1159150_A->T 11 1159150 1159150 A T snp 1440.77 1/1 99 42 0 42 1.0 intronic rs28542750 MUC5AC AU NM_001304359 exon10 c.7443+81A>T 0.891174 0.997 Uncertain 11_1161201_G->A 11 1161201 1161201 G A snp 1192.77 0/1 99 93 40 53 0.57 intronic rs28653550 MUC5AC AU NM_001304359 exon12 c.9585-10G>A 0.390974 0.3145 0.239922 0.3117 0.3156 Uncertain 11_1161315_T->C 11 1161315 1161315 T C snp 5769.77 1/1 99 210 0 210 1.0 exonic rs28403537 MUC5AC AU unknown 0.978634 0.999 0.970925 0.9479 0.9982 0.72 T -0.954 T Uncertain 11_1161335_T->G 11 1161335 1161335 T G snp 2673.77 0/1 99 212 101 111 0.52 intronic rs28663568 MUC5AC AU NM_001304359 exon12 c.9696+13T>G 0.393371 0.3145 0.230443 0.3001 0.3158 Uncertain 11_1161477_G->C 11 1161477 1161477 G C snp 956.77 0/1 99 72 35 37 0.51 intronic rs28464760 MUC5AC AU NM_001304359 exon12 c.9696+155G>C 0.371006 0.3145 Uncertain 11_1161713_G->C 11 1161713 1161713 G C snp 374.77 0/1 99 25 11 14 0.56 intronic rs28404876 MUC5AC AU NM_001304359 exon13 c.10191-104G>C 0.512979 0.3165 Uncertain 11_1162445_T->C 11 1162445 1162445 T C snp 450.77 1/1 36 12 0 12 1.0 intronic rs28534794 MUC5AC AU NM_001304359 exon15 c.10735+84T>C 0.750998 0.994 Uncertain 11_1212784_-->A 11 1212784 1212784 - A indel 4969.73 1/1 99 111 0 111 1.0 exonic rs146135733 MUC5AC AU unknown 0.999601 1 0.9851 0.9891 Uncertain 11_1212806_C->G 11 1212806 1212806 C G snp 141.77 0/1 99 196 174 22 0.11 exonic rs111164685 MUC5AC AU unknown Uncertain 11_1212813_C->A 11 1212813 1212813 C A snp 189.77 0/1 99 206 170 36 0.17 exonic rs77015916 MUC5AC AU unknown 0.0002 0 Uncertain 11_1212825_C->T 11 1212825 1212825 C T snp 1600.77 0/1 99 193 126 67 0.35 exonic rs111218897 MUC5AC AU unknown 0 0 Uncertain 11_1212828_C->A 11 1212828 1212828 C A snp 252.77 0/1 99 206 172 34 0.17 exonic MUC5AC AU unknown Uncertain 11_1212840_C->T 11 1212840 1212840 C T snp 398.77 0/1 99 228 194 34 0.15 exonic rs760673207 MUC5AC AU unknown 1.425e-05 0 Uncertain 11_1212846_T->C 11 1212846 1212846 T C snp 351.77 0/1 99 229 189 40 0.17 exonic rs137895563 MUC5AC AU unknown 4.501e-05 0 Uncertain 11_1212852_A->C 11 1212852 1212852 A C snp 152.77 0/1 99 222 201 21 0.09 exonic MUC5AC AU unknown Uncertain 11_1212864_C->T 11 1212864 1212864 C T snp 239.77 0/1 99 223 197 26 0.12 exonic MUC5AC AU unknown Uncertain 11_1212870_C->T 11 1212870 1212870 C T snp 2049.77 0/1 99 225 120 105 0.47 exonic rs79862170 MUC5AC AU unknown Uncertain 11_1212871_T->C 11 1212871 1212871 T C snp 506.77 0/1 99 222 155 67 0.3 exonic rs75826663 MUC5AC AU unknown Uncertain 11_1212877_A->G 11 1212877 1212877 A G snp 943.77 0/1 99 240 185 55 0.23 exonic rs36195734 MUC5AC AU unknown Uncertain 11_1212909_C->A 11 1212909 1212909 C A snp 226.77 0/1 99 237 188 49 0.21 exonic rs75313475 MUC5AC AU unknown Uncertain 11_1212942_T->C 11 1212942 1212942 T C snp 429.77 0/1 99 239 176 63 0.26 exonic rs201069081 MUC5AC AU unknown 2.649e-05 0 Uncertain 11_1212954_C->A 11 1212954 1212954 C A snp 406.77 0/1 99 238 195 43 0.18 exonic rs35216491 MUC5AC AU unknown 0.3098 0.2256 Uncertain 11_1212967_T->A 11 1212967 1212967 T A snp 813.77 0/1 99 242 133 109 0.45 exonic MUC5AC AU unknown Uncertain 11_1212970_A->C 11 1212970 1212970 A C snp 123.77 0/1 99 244 223 21 0.09 exonic rs764948166 MUC5AC AU unknown 7.769e-05 0 Uncertain 11_1212973_G->A 11 1212973 1212973 G A snp 1479.77 0/1 99 242 138 104 0.43 exonic rs79228823 MUC5AC AU unknown 0.0007 0.0016 Uncertain 11_1212980_C->G 11 1212980 1212980 C G snp 150.77 0/1 99 238 201 37 0.16 exonic MUC5AC AU unknown Uncertain 11_1212983_C->T 11 1212983 1212983 C T snp 91.77 0/1 99 235 212 23 0.1 exonic rs756678852 MUC5AC AU unknown 9.679e-06 0 Uncertain 11_1213000_T->A 11 1213000 1213000 T A snp 2407.77 0/1 99 241 105 136 0.56 exonic rs75897537 MUC5AC AU unknown 0.1772 0.1238 Uncertain 11_1213004_T->C 11 1213004 1213004 T C snp 2986.77 0/1 99 244 104 140 0.57 exonic rs112704799 MUC5AC AU unknown 0.1488 0.1058 Uncertain 11_1213017_C->T 11 1213017 1213017 C T snp 779.77 0/1 99 242 190 52 0.21 exonic rs74742636 MUC5AC AU unknown Uncertain 11_1213023_G->C 11 1213023 1213023 G C snp 2384.77 0/1 99 241 133 108 0.45 exonic rs28971119 MUC5AC AU unknown 0.2722 0.2686 Uncertain 11_1213047_T->C 11 1213047 1213047 T C snp 626.77 0/1 99 247 152 95 0.38 exonic rs28764936 MUC5AC AU unknown 0.0417 0.0259 Uncertain 11_1213100_C->A 11 1213100 1213100 C A snp 2459.77 0/1 99 249 138 111 0.45 exonic rs200208924 MUC5AC AU unknown 2.174e-05 0 Uncertain 11_1213107_T->A 11 1213107 1213107 T A snp 2244.77 0/1 99 248 154 94 0.38 exonic rs76479966 MUC5AC AU unknown 2.045e-05 0 Uncertain 11_1213111_C->G 11 1213111 1213111 C G snp 2520.77 0/1 99 247 150 97 0.39 exonic rs201423830 MUC5AC AU unknown 6.068e-05 0 Uncertain 11_1213118_C->G 11 1213118 1213118 C G snp 1441.77 0/1 99 246 182 64 0.26 exonic rs74979352 MUC5AC AU unknown 2.604e-05 0 Uncertain 11_1213125_G->A 11 1213125 1213125 G A snp 3932.77 0/1 99 249 109 140 0.56 exonic rs78716500 MUC5AC AU unknown 0.5 0.499 0.2969 0.2514 Uncertain 11_1213129_T->C 11 1213129 1213129 T C snp 891.77 0/1 99 249 201 48 0.19 exonic rs748806016 MUC5AC AU unknown 9.226e-06 0 Uncertain 11_1213131_T->C 11 1213131 1213131 T C snp 1943.77 0/1 99 249 182 67 0.27 exonic rs77731342 MUC5AC AU unknown 3.363e-05 0 Uncertain 11_1213135_C->T 11 1213135 1213135 C T snp 1573.77 0/1 99 249 188 61 0.24 exonic rs75319504 MUC5AC AU unknown 3.691e-05 0 Uncertain 11_1213143_T->C 11 1213143 1213143 T C snp 838.77 0/1 99 249 207 42 0.17 exonic rs765843853 MUC5AC AU unknown 1.303e-05 0 Uncertain 11_1213155_C->T 11 1213155 1213155 C T snp 806.77 0/1 99 249 205 44 0.18 exonic rs77137100 MUC5AC AU unknown 0.0654 0.0341 Uncertain 11_1213159_C->A 11 1213159 1213159 C A snp 524.77 0/1 99 249 215 34 0.14 exonic rs77643550 MUC5AC AU unknown Uncertain 11_1213174_A->G 11 1213174 1213174 A G snp 4175.77 0/1 99 249 122 127 0.51 exonic rs74046245 MUC5AC AU unknown 0.2794 0.3798 Uncertain 11_1213177_C->T 11 1213177 1213177 C T snp 4032.77 0/1 99 250 123 127 0.51 exonic rs74046246 MUC5AC AU unknown 0.3723 0.4117 Uncertain 11_1213204_C->G 11 1213204 1213204 C G snp 4755.77 0/1 99 250 110 140 0.56 exonic rs72479396 MUC5AC AU unknown 0.4672 0.4229 Uncertain 11_1213209_T->C 11 1213209 1213209 T C snp 639.77 0/1 99 249 215 34 0.14 exonic rs377214284 MUC5AC AU unknown 0.0028 0.0012 Uncertain 11_1213210_G->A 11 1213210 1213210 G A snp 606.77 0/1 99 250 217 33 0.13 exonic rs760860269 MUC5AC AU unknown 0.0027 0.0016 Uncertain 11_1213245_T->A 11 1213245 1213245 T A snp 5929.77 0/1 99 249 71 178 0.71 exonic rs67624660 MUC5AC AU unknown 0.4834 0.4685 Uncertain 11_1213246_G->A 11 1213246 1213246 G A snp 1308.77 0/1 99 249 193 56 0.22 exonic rs79770616 MUC5AC AU unknown Uncertain 11_1213256_C->T 11 1213256 1213256 C T snp 393.77 0/1 99 244 216 28 0.11 exonic rs370028072 MUC5AC AU unknown 0.0079 0.0065 Uncertain 11_1213257_T->C 11 1213257 1213257 T C snp 5697.77 0/1 99 243 74 169 0.7 exonic rs76779582 MUC5AC AU unknown 0.4831 0.4698 Uncertain 11_1213259_T->G 11 1213259 1213259 T G snp 5728.77 0/1 99 248 74 174 0.7 exonic rs75991767 MUC5AC AU unknown 0.4814 0.4720 Uncertain 11_1213264_G->A 11 1213264 1213264 G A snp 6002.77 0/1 99 249 69 180 0.72 exonic rs72846341 MUC5AC AU unknown 0.4825 0.4724 Uncertain 11_1213272_A->C 11 1213272 1213272 A C snp 4894.77 0/1 99 249 97 152 0.61 exonic rs78252457 MUC5AC AU unknown 0.4706 0.4719 Uncertain 11_1213275_G->A 11 1213275 1213275 G A snp 924.77 0/1 99 250 204 46 0.18 exonic rs71251383 MUC5AC AU unknown 0.0019 0.0038 Uncertain 11_1213281_C->T 11 1213281 1213281 C T snp 5248.77 0/1 99 249 89 160 0.64 exonic rs75618268 MUC5AC AU unknown 0.4726 0.4719 Uncertain 11_1213287_G->A 11 1213287 1213287 G A snp 1586.77 0/1 99 249 189 60 0.24 exonic rs112774721 MUC5AC AU unknown 0.0329 0.0228 Uncertain 11_1213293_C->T 11 1213293 1213293 C T snp 2495.77 0/1 99 250 164 86 0.34 exonic rs77207494 MUC5AC AU unknown 0.4506 0.4698 Uncertain 11_1213296_A->G 11 1213296 1213296 A G snp 668.77 0/1 99 250 210 40 0.16 exonic rs78466479 MUC5AC AU unknown 0.0056 0.0017 Uncertain 11_1213302_T->C 11 1213302 1213302 T C snp 918.77 0/1 99 249 205 44 0.18 exonic rs371630624 MUC5AC AU unknown 0.000599042 0.0053 0.0019 Uncertain 11_1213311_C->T 11 1213311 1213311 C T snp 915.77 0/1 99 249 206 43 0.17 exonic rs80058880 MUC5AC AU unknown 0.0327 0.0028 Uncertain 11_1213314_C->T 11 1213314 1213314 C T snp 3970.77 0/1 99 250 121 129 0.52 exonic rs73395695 MUC5AC AU unknown 0.4946 0.4934 Uncertain 11_1213317_G->A 11 1213317 1213317 G A snp 501.77 0/1 99 249 217 32 0.13 exonic rs76191775 MUC5AC AU unknown 0.0082 0.0027 Uncertain 11_1213405_G->A 11 1213405 1213405 G A snp 3018.77 0/1 99 250 151 99 0.4 exonic rs67262263 MUC5AC AU unknown 0.4941 0.4994 Uncertain 11_1213416_G->A 11 1213416 1213416 G A snp 2679.77 0/1 99 250 155 95 0.38 exonic rs78511643 MUC5AC AU unknown 0.4659 0.4916 Uncertain 11_1213424_A->G 11 1213424 1213424 A G snp 6455.77 0/1 99 250 59 191 0.76 exonic rs61867531 MUC5AC AU unknown 0.5003 0.5 Uncertain 11_1213428_T->C 11 1213428 1213428 T C snp 5815.77 0/1 99 250 77 173 0.69 exonic rs61867532 MUC5AC AU unknown 0.5001 0.4999 Uncertain 11_1213440_T->C 11 1213440 1213440 T C snp 6190.77 0/1 99 250 62 188 0.75 exonic rs61867533 MUC5AC AU unknown 0.5008 0.5001 Uncertain 11_1213461_T->G 11 1213461 1213461 T G snp 3501.77 0/1 99 250 111 139 0.56 exonic rs61867534 MUC5AC AU unknown 0.4939 0.4993 Uncertain 11_1213533_C->T 11 1213533 1213533 C T snp 3581.77 0/1 99 250 132 118 0.47 exonic rs73395699 MUC5AC AU unknown 0.4996 0.4999 Uncertain 11_1213556_G->A 11 1213556 1213556 G A snp 1573.77 0/1 99 250 186 64 0.26 exonic rs74046249 MUC5AC AU unknown 0.1751 0.0249 Uncertain 11_1213566_G->C 11 1213566 1213566 G C snp 1543.77 0/1 99 238 184 54 0.23 exonic rs72846342 MUC5AC AU unknown 0.1372 0.0581 Uncertain 11_1213897_A->T 11 1213897 1213897 A T snp 954.77 0/1 99 73 40 33 0.45 intronic rs79604368 MUC5AC AU NM_001304359 exon17 c.62381-110A>T 0.0107827 0.003 Uncertain 11_1214924_C->T 11 1214924 1214924 C T snp 496.77 0/1 99 32 12 20 0.63 intronic rs2075841 MUC5AC AU NM_001304359 exon18 c.63259+39C>T 0.377596 0.3294 0.278129 0.2672 0.2883 Uncertain 11_1215272_A->- 11 1215272 1215272 A - indel 1413.73 1/1 99 36 0 36 1.0 intronic rs71025716 MUC5AC AU NM_001304359 exon19 c.63709-63delA 1 1 Uncertain 11_1215580_A->G 11 1215580 1215580 A G snp 2264.77 0/1 99 217 115 102 0.47 exonic rs1132433 MUC5AC AU unknown 0.490016 0.3502 0.470410 0.4640 0.3875 Uncertain 11_1215698_A->G 11 1215698 1215698 A G snp 3635.77 0/1 99 250 111 139 0.56 intronic rs28452143 MUC5AC AU NM_001304359 exon20 c.64086-14A>G 0.60024 0.3552 0.687522 0.6363 0.3816 Uncertain 11_1216316_-->C 11 1216316 1216316 - C indel 6996.73 1/1 99 169 0 169 1.0 exonic rs397937535 MUC5AC AU unknown 1 1 0.997415 0.9999 0.9995 Uncertain 11_1216334_A->- 11 1216334 1216334 A - indel 7313.73 1/1 99 163 0 163 1.0 exonic rs60138698 MUC5AC AU unknown 1 1 0.999872 0.9997 0.9987 Uncertain 11_1216440_G->C 11 1216440 1216440 G C snp 1438.77 0/1 99 139 75 64 0.46 exonic rs28415193 MUC5AC AU unknown 0.51278 0.6687 0.508575 0.5848 0.7058 Uncertain 11_1216491_G->C 11 1216491 1216491 G C snp 898.77 0/1 99 105 62 43 0.41 exonic rs1132434 MUC5AC AU unknown 0.513978 0.6687 0.510129 0.5858 0.7074 Uncertain 11_1217084_T->C 11 1217084 1217084 T C snp 1883.77 0/1 99 159 76 83 0.52 intronic rs28652890 MUC5AC AU NM_001304359 exon23 c.65475-17T>C 0.491414 0.3492 0.481786 0.4159 0.3035 Uncertain 11_1217228_T->C 11 1217228 1217228 T C snp 2601.77 0/1 99 197 82 115 0.58 exonic rs28592983 MUC5AC AU unknown 0.639976 0.3532 0.722300 0.6118 0.3052 Uncertain 11_1218128_G->A 11 1218128 1218128 G A snp 1458.77 0/1 99 125 61 64 0.51 exonic rs28503875 MUC5AC AU unknown 0.478634 0.3512 0.452883 0.4345 0.3216 Uncertain 11_1218143_A->C 11 1218143 1218143 A C snp 1285.77 0/1 99 114 61 53 0.46 intronic rs28515631 MUC5AC AU NM_001304359 exon26 c.66508+9A>C 0.503794 0.6498 0.524236 0.5922 0.7017 Uncertain 11_1219118_T->C 11 1219118 1219118 T C snp 109.77 0/1 99 14 9 5 0.36 intronic rs28742281 MUC5AC AU NM_001304359 exon28 c.67502-10T>C 0.523363 0.3492 0.416185 0.5082 0.4424 Uncertain 11_1219632_G->A 11 1219632 1219632 G A snp 1397.77 0/1 99 143 78 65 0.45 intronic rs2075843 MUC5AC AU NM_001304359 exon29 c.67905+101G>A 0.397564 0.3462 Uncertain 11_1220174_G->A 11 1220174 1220174 G A snp 3638.77 0/1 99 250 109 141 0.56 exonic rs56047977 MUC5AC AU unknown 0.0626997 0.2272 0.002982 0.0546 0.2569 Uncertain 11_1220599_T->C 11 1220599 1220599 T C snp 1266.77 0/1 99 83 26 57 0.69 exonic rs28633254 MUC5AC AU unknown 0.505391 0.3492 0.469464 0.5036 0.4688 Uncertain 11_1220760_T->C 11 1220760 1220760 T C snp 939.77 0/1 99 75 35 40 0.53 intronic rs28514396 MUC5AC AU NM_001304359 exon32 c.69090+44T>C 0.505192 0.3492 0.4349 0.3435 Uncertain 11_1220796_T->C 11 1220796 1220796 T C snp 604.77 0/1 99 51 26 25 0.49 intronic rs28502687 MUC5AC AU NM_001304359 exon32 c.69090+80T>C 0.508387 0.3492 Uncertain 11_1220967_C->T 11 1220967 1220967 C T snp 1920.77 0/1 99 140 63 77 0.55 exonic rs1132436 MUC5AC AU unknown 0.492212 0.6508 0.544006 0.6021 0.7014 Uncertain 11_1220997_G->A 11 1220997 1220997 G A snp 2680.77 0/1 99 221 107 114 0.52 intronic rs28457780 MUC5AC AU NM_001304359 exon33 c.69364+7G>A 0.376797 0.3462 0.251095 0.3877 0.4504 Uncertain 11_1221038_C->T 11 1221038 1221038 C T snp 3446.77 0/1 99 250 119 131 0.52 intronic rs28439383 MUC5AC AU NM_001304359 exon34 c.69454-42C>T 0.379593 0.3462 0.266973 0.3989 0.4492 Uncertain 11_1221305_A->G 11 1221305 1221305 A G snp 343.77 0/1 99 18 6 12 0.67 intronic rs2075844 MUC5AC AU NM_001304359 exon34 c.69569+110A>G 0.505591 0.3512 Uncertain 11_1221592_T->C 11 1221592 1221592 T C snp 715.77 1/1 54 18 0 18 1.0 intronic rs28728088 MUC5AC AU NM_001304359 exon35 c.70037-71T>C 0.899361 0.997 Uncertain 11_1221817_G->C 11 1221817 1221817 G C snp 1801.77 0/1 99 158 87 71 0.45 exonic rs1132440 MUC5AC AU unknown 0.491414 0.6498 0.513499 0.5793 0.6961 Uncertain 11_1244219_T->C 11 1244219 1244219 T C snp 54.74 1/1 6 2 0 2 1.0 upstream rs2735738 MUC5B AD 0.340455 0.4375 Uncertain 11_1244492_C->T 11 1244492 1244492 C T snp 1250.77 0/1 99 118 56 62 0.53 intronic rs56223695 MUC5B AD NM_002458 exon1 c.70+69C>T 0.0347444 0.002 0.0526 0.0051 Uncertain 11_1246769_G->T 11 1246769 1246769 G T snp 911.77 0/1 99 83 46 37 0.45 intronic rs78468756 MUC5B AD NM_002458 exon2 c.2557-141G>T 0.0359425 0.002 Uncertain 11_1246941_A->G 11 1246941 1246941 A G snp 2238.77 0/1 99 160 63 97 0.61 exonic rs2672785 MUC5B AD nonsynonymous SNV NM_002458 exon2 c.A101G p.E34G 0.327476 0.4365 0.234072 0.3251 0.4885 0 D 0.0 P -0.913 T 0.0 T 0.0 T CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000151032.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 11_1248197_G->T 11 1248197 1248197 G T snp 169.77 0/1 99 22 14 8 0.36 intronic rs908224 MUC5B AD NM_002458 exon5 c.3907-63G>T 0.6252 0.5853 Uncertain 11_1248491_T->G 11 1248491 1248491 T G snp 3918.77 1/1 99 138 0 138 1.0 intronic rs908223 MUC5B AD NM_002458 exon6 c.4184-46T>G 0.995008 1 0.986686 0.9897 1 Uncertain 11_1248731_A->G 11 1248731 1248731 A G snp 681.77 1/1 51 21 0 21 1.0 intronic rs2075854 MUC5B AD NM_002458 exon6 c.4275+103A>G 0.598043 0.5169 Uncertain 11_1250384_A->G 11 1250384 1250384 A G snp 709.77 0/1 99 57 24 33 0.58 intronic rs2471912 MUC5B AD NM_002458 exon9 c.6046-15A>G 0.497005 0.6508 0.429218 0.5498 0.6818 Uncertain 11_1250488_C->T 11 1250488 1250488 C T snp 1145.77 0/1 99 87 35 52 0.6 exonic rs2075859 MUC5B AD synonymous SNV NM_002458 exon9 c.C1065T p.C355C 0.392772 0.6052 0.318036 0.4395 0.6400 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000155554.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 11_1250603_G->C 11 1250603 1250603 G C snp 588.77 0/1 99 45 19 26 0.58 intronic rs2075860 MUC5B AD NM_002458 exon9 c.6172+78G>C 0.494409 0.6518 Uncertain 11_1250696_C->T 11 1250696 1250696 C T snp 115.78 0/1 27 6 1 5 0.83 intronic rs10832955 MUC5B AD NM_002458 exon9 c.6172+171C>T 0.391374 0.6022 Uncertain 11_1252047_T->C 11 1252047 1252047 T C snp 1432.77 1/1 99 48 0 48 1.0 intronic rs2672807 MUC5B AD NM_002458 exon13 c.7812-118T>C 0.799321 0.9722 Uncertain 11_1252708_G->C 11 1252708 1252708 G C snp 5983.77 1/1 99 226 0 226 1.0 exonic rs2735709 MUC5B AD synonymous SNV NM_002458 exon14 c.G1596C p.L532L 0.569489 0.6548 0.528809 0.5448 0.6575 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000151037.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 11_1253401_C->G 11 1253401 1253401 C G snp 2781.77 1/1 99 100 0 100 1.0 intronic rs12421917 MUC5B AD NM_002458 exon15 c.9037+11C>G 0.464457 0.6042 0.397376 0.4568 0.6231 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000151038.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 11_1253856_T->C 11 1253856 1253856 T C snp 6756.77 1/1 99 233 2 231 0.99 intronic rs1318321 MUC5B AD NM_002458 exon17 c.9520-17T>C 0.545527 0.6548 0.4824 0.5871 Uncertain 11_1253942_T->C 11 1253942 1253942 T C snp 6392.77 1/1 99 216 0 216 1.0 exonic rs908229 MUC5B AD synonymous SNV NM_002458 exon17 c.T2007C p.Y669Y 0.544928 0.6548 0.606875 0.6440 0.7178 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000151039.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 11_1253969_A->G 11 1253969 1253969 A G snp 2342.77 0/1 99 190 88 102 0.54 exonic rs72846370 MUC5B AD synonymous SNV NM_002458 exon17 c.A2034G p.V678V 0.3474 0.2889 Uncertain 11_1253976_A->G 11 1253976 1253976 A G snp 2097.77 0/1 99 181 89 92 0.51 exonic rs76956995 MUC5B AD nonsynonymous SNV NM_002458 exon17 c.A2041G p.S681G 0.2862 0.2197 0 D 1 N -0.510 T 0.985 D 0.754 D Pathogenic 11_1253980_A->G 11 1253980 1253980 A G snp 1989.77 0/1 99 175 86 89 0.51 exonic rs202127660 MUC5B AD nonsynonymous SNV NM_002458 exon17 c.A2045G p.D682G 0.2538 0.1846 0 D 0.992 N -0.923 T 0.0 T 0.0 T Pathogenic 11_1254038_G->A 11 1254038 1254038 G A snp 661.77 0/1 99 51 30 21 0.41 intronic rs11026355 MUC5B AD NM_002458 exon17 c.9647+38G>A 0.340056 0.5992 0.260239 0.3475 0.6207 Uncertain 11_1254599_T->C 11 1254599 1254599 T C snp 491.77 1/1 36 18 0 18 1.0 intronic rs2672806 MUC5B AD NM_002458 exon18 c.10145+101T>C 0.542931 0.6538 Uncertain 11_1254940_G->A 11 1254940 1254940 G A snp 478.77 0/1 99 35 15 20 0.57 intronic rs2735719 MUC5B AD NM_002458 exon19 c.10669-82G>A 0.453474 0.6518 Uncertain 11_1255090_CCCTG->- 11 1255090 1255094 CCCTG - indel 2222.73 0/1 99 94 23 71 0.76 intronic rs147340559 MUC5B AD NM_002458 exon19 c.10725+12_10725+16delCCCTG 0.45627 0.6518 0.3825 0.5935 Uncertain 11_1255773_C->T 11 1255773 1255773 C T snp 1196.77 0/1 99 95 46 49 0.52 exonic rs7116614 MUC5B AD synonymous SNV NM_002458 exon21 c.C2493T p.C831C 0.339457 0.5982 0.255781 0.3798 0.6238 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000151040.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 11_1257867_T->C 11 1257867 1257867 T C snp 1208.77 1/1 90 37 1 36 0.97 intronic rs2672803 MUC5B AD NM_002458 exon24 c.13439+75T>C 0.545727 0.6528 Uncertain 11_1257886_C->T 11 1257886 1257886 C T snp 252.77 0/1 99 18 10 8 0.44 intronic rs56139112 MUC5B AD NM_002458 exon24 c.13439+94C>T 0.0513179 0.003 Uncertain 11_1258175_C->T 11 1258175 1258175 C T snp 2283.77 0/1 99 250 145 105 0.42 exonic rs80092233 MUC5B AD synonymous SNV NM_002458 exon25 c.C3078T p.C1026C 0.000399361 0.2177 0.1730 ID=COSM4145461,COSM4145462;OCCURENCE=1(thyroid) Uncertain 11_1258192_A->T 11 1258192 1258192 A T snp 1891.77 0/1 99 239 157 82 0.34 exonic rs76589014 MUC5B AD nonsynonymous SNV NM_002458 exon25 c.A3095T p.N1032I 0.2734 0.2244 0 D 0.850 D -0.469 T 0.995 D 0.929 D ID=COSM4145463,COSM4145464;OCCURENCE=1(thyroid) Pathogenic 11_1258193_T->C 11 1258193 1258193 T C snp 1956.77 0/1 99 243 160 83 0.34 exonic rs74904842 MUC5B AD synonymous SNV NM_002458 exon25 c.T3096C p.N1032N 0.2846 0.2392 ID=COSM4145465,COSM4145466;OCCURENCE=1(thyroid) Uncertain 11_1258197_A->G 11 1258197 1258197 A G snp 1988.77 0/1 99 247 163 84 0.34 exonic rs78674028 MUC5B AD nonsynonymous SNV NM_002458 exon25 c.A3100G p.I1034V 0.2649 0.2143 0 D 1 N -0.939 T 0.145 T 0.1 T ID=COSM4145467,COSM4145468;OCCURENCE=1(thyroid) Pathogenic 11_1258199_C->T 11 1258199 1258199 C T snp 2001.77 0/1 99 248 163 85 0.34 exonic rs80200632 MUC5B AD synonymous SNV NM_002458 exon25 c.C3102T p.I1034I 0.2708 0.2171 ID=COSM4145469,COSM4145470;OCCURENCE=1(thyroid) Uncertain 11_1258217_T->G 11 1258217 1258217 T G snp 2366.77 0/1 99 249 150 99 0.4 exonic rs74648489 MUC5B AD synonymous SNV NM_002458 exon25 c.T3120G p.R1040R 0.3001 0.2605 ID=COSM4145472,COSM4145471;OCCURENCE=1(thyroid) Uncertain 11_1258226_C->T 11 1258226 1258226 C T snp 2374.77 0/1 99 250 152 98 0.39 exonic rs55700357 MUC5B AD synonymous SNV NM_002458 exon25 c.C3129T p.S1043S 0.00419329 0.2984 0.2567 ID=COSM4145473,COSM4145474;OCCURENCE=1(thyroid) Uncertain 11_1258240_C->T 11 1258240 1258240 C T snp 2295.77 0/1 99 245 153 92 0.38 exonic rs77287508 MUC5B AD nonsynonymous SNV NM_002458 exon25 c.C3143T p.A1048V 0.3232 0.2904 0 D 1 N -0.978 T 0.002 T 0.001 T Pathogenic 11_1258241_A->G 11 1258241 1258241 A G snp 2302.77 0/1 99 243 152 91 0.37 exonic rs79773885 MUC5B AD synonymous SNV NM_002458 exon25 c.A3144G p.A1048A 0.3395 0.3111 Uncertain 11_1258283_G->A 11 1258283 1258283 G A snp 2346.77 0/1 99 230 129 101 0.44 exonic rs78669250 MUC5B AD synonymous SNV NM_002458 exon25 c.G3186A p.P1062P 0.4865 0.4873 Uncertain 11_1258286_C->T 11 1258286 1258286 C T snp 2291.77 0/1 99 226 127 99 0.44 exonic rs77996005 MUC5B AD synonymous SNV NM_002458 exon25 c.C3189T p.D1063D 0.4865 0.4856 Uncertain 11_1258295_A->G 11 1258295 1258295 A G snp 2316.77 0/1 99 222 124 98 0.44 exonic rs79118814 MUC5B AD synonymous SNV NM_002458 exon25 c.A3198G p.A1066A 0.4918 0.4928 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000151041.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 11_1260145_T->C 11 1260145 1260145 T C snp 465.77 0/1 99 185 149 36 0.19 exonic rs75799984 MUC5B AD synonymous SNV NM_002458 exon26 c.T3342C p.C1114C Uncertain 11_1260157_G->C 11 1260157 1260157 G C snp 467.77 0/1 99 185 149 36 0.19 exonic rs78678736 MUC5B AD synonymous SNV NM_002458 exon26 c.G3354C p.S1118S Uncertain 11_1260160_T->G 11 1260160 1260160 T G snp 480.77 0/1 99 182 145 37 0.2 exonic rs78177850 MUC5B AD synonymous SNV NM_002458 exon26 c.T3357G p.G1119G Uncertain 11_1260163_C->T 11 1260163 1260163 C T snp 456.77 0/1 99 181 146 35 0.19 exonic rs79220674 MUC5B AD synonymous SNV NM_002458 exon26 c.C3360T p.G1120G 0.000399361 0.0002 0.0018 Uncertain 11_1260175_T->C 11 1260175 1260175 T C snp 492.77 0/1 99 169 134 35 0.21 exonic rs75760167 MUC5B AD synonymous SNV NM_002458 exon26 c.T3372C p.C1124C Uncertain 11_1260193_T->C 11 1260193 1260193 T C snp 479.77 0/1 99 165 132 33 0.2 exonic rs74763753 MUC5B AD synonymous SNV NM_002458 exon26 c.T3390C p.A1130A Uncertain 11_1260214_C->T 11 1260214 1260214 C T snp 379.77 0/1 99 160 135 25 0.16 exonic rs79585387 MUC5B AD synonymous SNV NM_002458 exon26 c.C3411T p.H1137H Uncertain 11_1260217_C->A 11 1260217 1260217 C A snp 389.77 0/1 99 154 131 23 0.15 exonic rs79638064 MUC5B AD nonsynonymous SNV NM_002458 exon26 c.C3414A p.D1138E 0 0 0 D 1 N -0.914 T 0.217 T 0.229 T Pathogenic 11_1260219_C->T 11 1260219 1260219 C T snp 394.77 0/1 99 155 130 25 0.16 exonic rs75935363 MUC5B AD nonsynonymous SNV NM_002458 exon26 c.C3416T p.A1139V 4.133e-05 0 0 D 1 N -0.926 T 0.682 T 0.075 P Pathogenic 11_1260220_G->A 11 1260220 1260220 G A snp 379.77 0/1 99 155 131 24 0.15 exonic rs61733358 MUC5B AD synonymous SNV NM_002458 exon26 c.G3417A p.A1139A 0.0003 0 Uncertain 11_1260519_G->A 11 1260519 1260519 G A snp 245.77 0/1 99 18 9 9 0.5 intronic MUC5B AD NM_002458 exon27 c.16314-148G>A Uncertain 11_1261640_C->T 11 1261640 1261640 C T snp 1709.77 0/1 99 121 51 70 0.58 intronic rs2735733 MUC5B AD NM_002458 exon30 c.17252+35C>T 0.461861 0.6577 0.388451 0.4752 0.6603 Uncertain 11_1262907_T->C 11 1262907 1262907 T C snp 2326.77 0/1 99 240 139 101 0.42 exonic rs2037089 MUC5B AD synonymous SNV NM_002458 exon31 c.T4797C p.S1599S 0.204673 0.0615 0.214072 0.2194 0.0658 Uncertain 11_1263234_A->G 11 1263234 1263234 A G snp 2459.77 0/1 99 211 114 97 0.46 exonic rs56117556 MUC5B AD synonymous SNV NM_002458 exon31 c.A5124G p.T1708T 0.048123 0.0089 0.043345 0.0499 0.0185 Uncertain 11_1267325_T->C 11 1267325 1267325 T C snp 2706.77 0/1 99 250 127 123 0.49 exonic rs55813014 MUC5B AD nonsynonymous SNV NM_002458 exon31 c.T9215C p.F3072S 0.480631 0.6558 0.302368 0.4897 0.6506 0 D 0.0 P -0.972 T 0.012 T 0.001 T Pathogenic 11_1267562_C->T 11 1267562 1267562 C T snp 1057.77 0/1 99 76 37 39 0.51 exonic rs60268710 MUC5B AD nonsynonymous SNV NM_002458 exon31 c.C9452T p.T3151M 0.340655 0.6012 0.263060 0.3209 0.6063 0 D 0.0 P -0.978 T 0.83 T 0.086 P Pathogenic 11_1270965_G->A 11 1270965 1270965 G A snp 1814.77 0/1 99 181 104 77 0.43 exonic rs114687104 MUC5B AD synonymous SNV NM_002458 exon31 c.G12855A p.P4285P 0.0505192 0.002 0.053849 0.0391 0.0039 Uncertain 11_1271321_C->G 11 1271321 1271321 C G snp 860.77 0/1 99 62 33 29 0.47 exonic rs2943517 MUC5B AD nonsynonymous SNV NM_002458 exon31 c.C13211G p.A4404G 0.451877 0.629 0.4599 0.6268 0 D 0.0 P -1.027 T 0.949 T 0.528 D Pathogenic 11_1272226_A->C 11 1272226 1272226 A C snp 2414.77 1/1 99 83 0 83 1.0 exonic rs2943512 MUC5B AD nonsynonymous SNV NM_002458 exon31 c.A14116C p.T4706P 0.540335 0.6548 0.469795 0.5283 0.6653 0 D 0.0 P -0.924 T 0.0 T 0.0 T Pathogenic 11_1272800_C->T 11 1272800 1272800 C T snp 1401.77 0/1 99 126 70 56 0.44 exonic rs55693520 MUC5B AD nonsynonymous SNV NM_002458 exon31 c.C14690T p.S4897L 0.028754 0.002 0.025301 0.0312 0.0039 0 D 1 N -1.032 T 0.056 T 0.004 T Pathogenic 11_1272858_C->T 11 1272858 1272858 C T snp 1947.77 0/1 99 163 74 89 0.55 exonic rs4963059 MUC5B AD synonymous SNV NM_002458 exon31 c.C14748T p.F4916F 0.338858 0.6052 0.260118 0.3191 0.6032 Uncertain 11_1273049_C->G 11 1273049 1273049 C G snp 660.77 0/1 99 40 16 24 0.6 intronic rs55649457 MUC5B AD NM_002458 exon31 c.28620+76C>G 0.0511182 0.002 Uncertain 11_1273833_T->C 11 1273833 1273833 T C snp 222.84 1/1 18 6 0 6 1.0 intronic rs2249073 MUC5B AD NM_002458 exon32 c.29401+79T>C 0.545927 0.6577 Uncertain 11_1275592_G->A 11 1275592 1275592 G A snp 999.77 0/1 99 82 39 43 0.52 intronic rs56088961 MUC5B AD NM_002458 exon34 c.31228+11G>A 0.0505192 0.002 0.051489 0.0395 0.0041 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000151044.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 11_1275593_C->A 11 1275593 1275593 C A snp 1002.77 0/1 99 81 39 42 0.52 intronic rs56352092 MUC5B AD NM_002458 exon34 c.31228+12C>A 0.0505192 0.002 0.052035 0.0395 0.0041 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000155561.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 11_1276207_A->G 11 1276207 1276207 A G snp 145.77 0/1 99 54 38 16 0.3 intronic MUC5B AD NM_002458 exon36 c.31917-63A>G Uncertain 11_1276214_T->G 11 1276214 1276214 T G snp 35.77 0/1 64 59 47 12 0.2 intronic MUC5B AD NM_002458 exon36 c.31917-56T>G Uncertain 11_1277272_C->T 11 1277272 1277272 C T snp 201.77 0/1 99 16 8 8 0.5 intronic rs182226900 MUC5B AD NM_002458 exon38 c.33032-113C>T 0.066893 0.002 Uncertain 11_1277319_G->A 11 1277319 1277319 G A snp 537.77 0/1 99 61 34 27 0.44 intronic rs116153306 MUC5B AD NM_002458 exon38 c.33032-66G>A 0.0505192 0.002 Uncertain 11_1279486_A->G 11 1279486 1279486 A G snp 2205.77 1/1 99 72 0 72 1.0 intronic rs2249550 MUC5B AD NM_002458 exon42 c.35080+53A>G 0.571286 0.6587 Uncertain 11_1279527_A->T 11 1279527 1279527 A T snp 1611.77 0/1 99 127 50 77 0.61 intronic rs55954116 MUC5B AD NM_002458 exon43 c.35206-32A>T 0.0692891 0.002 0.072834 0.0464 0.0041 Uncertain 11_1280238_G->A 11 1280238 1280238 G A snp 2878.77 0/1 99 243 120 123 0.51 exonic rs55856616 MUC5B AD nonsynonymous SNV NM_002458 exon44 c.G16660A p.D5554N 0.0505192 0.002 0.047603 0.0657 0.0063 0 D 1 N -1.000 T 0.45 T 0.113 P CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000151053.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 11_1280362_T->C 11 1280362 1280362 T C snp 438.77 0/1 99 27 11 16 0.59 intronic rs56225362 MUC5B AD NM_002458 exon44 c.35938+71T>C 0.0656949 0.003 Uncertain 11_1281134_T->C 11 1281134 1281134 T C snp 7255.77 1/1 99 249 1 248 1.0 intronic rs2857476 MUC5B AD NM_002458 exon46 c.36839-58T>C 0.577276 0.6677 Uncertain 11_1281544_G->A 11 1281544 1281544 G A snp 484.77 0/1 99 47 27 20 0.43 intronic rs55902629 MUC5B AD NM_002458 exon47 c.37227-36G>A 0.0473243 0.002 0.047210 0.0381 0.0041 Uncertain 11_1281787_G->A 11 1281787 1281787 G A snp 2081.77 0/1 99 190 103 87 0.46 intronic rs56152756 MUC5B AD NM_002458 exon48 c.37502-68G>A 0.0501198 0.002 Uncertain 11_1283511_C->T 11 1283511 1283511 C T snp 1157.77 0/1 99 118 72 46 0.39 downstream rs56367042 MUC5B AD 0.0529153 0.002 0.0390 0.0039 0.27 T -1.087 T 0.003 T 0.001 T Uncertain 11_1283512_A->G 11 1283512 1283512 A G snp 1179.77 0/1 99 118 73 45 0.38 downstream rs55672909 MUC5B AD 0.0834665 0.002 0.098532 0.0730 0.0039 Uncertain 11_1284227_A->G 11 1284227 1284227 A G snp 861.77 1/1 63 28 0 28 1.0 downstream rs12417955 MUC5B AD 0.571486 0.6587 0.511876 0.5432 0.6671 Uncertain 11_1284409_C->T 11 1284409 1284409 C T snp 1443.77 0/1 99 130 63 67 0.52 intergenic rs55831269 MUC5B AD 0.0473243 0.002 0.049057 0.0351 0.0039 Uncertain 11_1298539_C->G 11 1298539 1298539 C G snp 237.77 0/1 51 9 2 7 0.78 intronic rs5744014 TOLLIP AU NM_019009 exon1 c.215+56C>G 0.047524 0.002 Uncertain 11_1304707_G->- 11 1304707 1304707 G - indel 812.73 0/1 99 37 12 25 0.68 intronic rs3838783 TOLLIP AU NM_019009 exon2 c.8963-2524delG 0.6057 0.2955 Uncertain 11_1411501_C->T 11 1411501 1411501 C T snp 974.77 0/1 99 82 34 48 0.59 UTR5 rs112066837 BRSK2 AU 0.4375 0.247 0.641239 0.7494 0.5671 Uncertain 11_1432691_T->C 11 1432691 1432691 T C snp 1173.77 0/1 99 105 53 52 0.5 intronic rs61868960 BRSK2 AU NM_001256630 exon1 c.229-172T>C 0.277955 0.0278 0.458435 0.4081 0.0127 Uncertain 11_1432949_C->T 11 1432949 1432949 C T snp 139.03 1/1 12 4 0 4 1.0 intronic rs112544636 BRSK2 AU NM_001256630 exon1 c.229+86C>T 0.0960463 0.0238 Uncertain 11_1459699_G->C 11 1459699 1459699 G C snp 513.77 0/1 99 33 11 22 0.67 intronic rs2272426 BRSK2 AU NM_003957 exon3 c.48107+78G>C 0.279752 0.3274 Uncertain 11_1464904_G->- 11 1464904 1464904 G - indel 710.73 0/1 99 53 19 34 0.64 intronic rs398015178 BRSK2 AU NM_003957 exon8 c.53351+39delG 0.745607 0.4583 0.843455 0.7648 0.4631 Uncertain 11_1471154_C->T 11 1471154 1471154 C T snp 362.77 0/1 99 28 12 16 0.57 intronic rs11028332 BRSK2 AU NM_003957 exon13 c.59552+88C>T 0.642372 0.5218 Uncertain 11_1471221_C->T 11 1471221 1471221 C T snp 77.77 0/1 99 6 3 3 0.5 intronic rs73409602 BRSK2 AU NM_003957 exon13 c.59552+155C>T 0.23143 0.3661 Uncertain 11_1471751_C->T 11 1471751 1471751 C T snp 658.77 0/1 99 86 54 32 0.37 intronic rs2272424 BRSK2 AU NM_003957 exon14 c.60302-65C>T 0.222644 0.4593 Uncertain 11_1472476_G->- 11 1472476 1472476 G - indel 1109.73 0/1 99 88 48 40 0.45 intronic rs3838784 BRSK2 AU NM_003957 exon15 c.61086-124delG 0.709864 0.4117 Uncertain 11_1490644_G->- 11 1490644 1490644 G - indel 318.73 0/1 99 25 11 14 0.56 downstream rs398015180 MOB2 AU 0.387979 0.6032 Uncertain 11_1491096_G->A 11 1491096 1491096 G A snp 2971.77 0/1 99 224 98 126 0.56 UTR3 rs9440 MOB2 AU 0.548323 0.4058 0.5284 0.4278 Uncertain 11_1492445_A->G 11 1492445 1492445 A G snp 3230.05 1/1 99 93 0 93 1.0 intronic rs4881724 MOB2 AU NM_001172223 exon2 c.1123-79A>G 0.938898 0.998 Uncertain 11_1501670_G->C 11 1501670 1501670 G C snp 5431.77 1/1 99 196 0 196 1.0 exonic rs10742185 MOB2 AU synonymous SNV NM_001172223 exon3 c.C318G p.S106S 0.940096 0.998 0.914304 0.9051 0.9993 Uncertain 11_1502097_A->G 11 1502097 1502097 A G snp 3040.77 1/1 99 114 0 114 1.0 exonic rs10767696 MOB2 AU synonymous SNV NM_001172223 exon2 c.T129C p.P43P 0.934305 0.998 0.909571 0.9077 0.9994 Uncertain 11_1502338_A->G 11 1502338 1502338 A G snp 531.77 0/1 99 41 20 21 0.51 intronic rs11030218 MOB2 AU NM_053005 exon4 c.10715+222A>G 0.276158 0.5317 Uncertain 11_1502401_A->C 11 1502401 1502401 A C snp 2577.77 1/1 99 93 0 93 1.0 intronic rs4881735 MOB2 AU NM_053005 exon4 c.10715+285A>C 0.940296 0.998 0.925179 0.9036 0.9983 Uncertain 11_1502638_C->T 11 1502638 1502638 C T snp 526.77 0/1 99 27 10 17 0.63 intronic rs11030226 MOB2 AU NM_053005 exon4 c.10715+522C>T 0.330671 0.6081 Uncertain 11_1507512_T->C 11 1507512 1507512 T C snp 429.77 1/1 33 11 0 11 1.0 intronic rs1881502 MOB2 AU NM_001172223 exon5 c.16275-164T>C 0.878994 0.9196 Uncertain 11_1507731_A->G 11 1507731 1507731 A G snp 5629.77 1/1 99 220 0 220 1.0 exonic rs1881503 MOB2 AU nonsynonymous SNV NM_001172223 exon1 c.T56C p.L19P 0.940296 0.998 0.9026 0.9949 1 T 0.868 P -0.951 T 0.0 T 0.0 T Pathogenic 11_1507795_G->A 11 1507795 1507795 G A snp 1164.77 0/1 99 121 71 50 0.41 UTR5 rs1110206 MOB2 AU 0.370008 0.6101 0.3596 0.6515 Uncertain 11_1509143_T->C 11 1509143 1509143 T C snp 927.77 0/1 99 91 50 41 0.45 intergenic rs1105871 MOB2 AU 0.371006 0.6141 Uncertain 11_1509238_T->C 11 1509238 1509238 T C snp 6834.77 1/1 99 250 0 250 1.0 intergenic rs2334554 MOB2 AU 0.940296 0.998 0.910234 0.9049 0.9988 Uncertain 11_1509421_G->A 11 1509421 1509421 G A snp 285.77 0/1 99 18 8 10 0.56 intergenic rs2334553 MOB2 AU 0.568291 0.3839 Uncertain 11_1576005_T->C 11 1576005 1576005 T C snp 176.77 0/1 99 15 8 7 0.47 UTR3 rs59483236 DUSP8 AU 0.493411 0.4315 Uncertain 11_1576137_C->T 11 1576137 1576137 C T snp 82.77 0/1 96 9 4 5 0.56 UTR3 rs11604635 DUSP8 AU 0.488019 0.4365 Uncertain 11_1576235_T->C 11 1576235 1576235 T C snp 162.77 0/1 99 20 9 11 0.55 UTR3 rs6578504 DUSP8 AU 0.666733 0.4355 Uncertain 11_1576283_G->A 11 1576283 1576283 G A snp 238.77 0/1 99 18 7 11 0.61 UTR3 rs11603496 DUSP8 AU 0.493411 0.4315 Uncertain 11_1578090_G->A 11 1578090 1578090 G A snp 34.77 0/1 63 7 4 3 0.43 exonic rs7129499 DUSP8 AU synonymous SNV NM_004420 exon7 c.C1536T p.L512L 0.486222 0.4315 1 . Uncertain 11_1580301_C->T 11 1580301 1580301 C T snp 31.77 0/1 60 11 8 3 0.27 intronic rs201301580 DUSP8 AU NM_004420 exon4 c.2538+16C>T 0.000199681 0.001 2.961e-05 0.0003 Uncertain 11_1585277_C->T 11 1585277 1585277 C T snp 820.77 0/1 99 98 60 38 0.39 intronic rs3740620 DUSP8 AU NM_004420 exon5 c.7472+58C>T 0.501597 0.4315 Uncertain 11_1619173_CCCCCACAGGAGCCACAGCCCCCCTTGGAG->- 11 1619173 1619202 CCCCCACAGGAGCCACAGCCCCCCTTGGAG - indel 1415.73 0/1 99 28 4 24 0.86 exonic rs59506446 KRTAP5-2 AU nonframeshift deletion NM_001004325 exon1 c.279_308del p.93_103del 0.4695 0.3651 ID=COSM1352866;OCCURENCE=26(large_intestine),1(NS) Uncertain 11_1628844_A->G 11 1628844 1628844 A G snp 1353.77 0/1 99 109 55 54 0.5 UTR3 rs1989592 KRTAP5-3 AU 0.733626 0.5169 Uncertain 11_1628965_G->A 11 1628965 1628965 G A snp 1930.77 0/1 99 155 72 83 0.54 exonic rs57186801 KRTAP5-3 AU synonymous SNV NM_001012708 exon1 c.C651T p.S217S 0.46266 0.3889 0.527996 0.5033 0.3573 Uncertain 11_1628992_G->A 11 1628992 1628992 G A snp 1167.77 0/1 99 119 58 61 0.51 exonic rs60210378 KRTAP5-3 AU synonymous SNV NM_001012708 exon1 c.C624T p.G208G 0.461062 0.3879 0.5048 0.3581 Uncertain 11_1629156_T->A 11 1629156 1629156 T A snp 45.77 0/1 74 49 39 10 0.2 exonic rs75371407 KRTAP5-3 AU nonsynonymous SNV NM_001012708 exon1 c.A460T p.S154C 8.254e-06 0 0.08 T 1 N -0.920 T 0.0 T 0.002 T Pathogenic 11_1630342_T->A 11 1630342 1630342 T A snp 268.77 0/1 99 30 17 13 0.43 upstream rs10837527 KRTAP5-3 AU 0.732628 0.5139 Uncertain 11_1651169_T->C 11 1651169 1651169 T C snp 73.77 0/1 30 5 1 4 0.8 exonic rs71454095 KRTAP5-5 AU synonymous SNV NM_001001480 exon1 c.T99C p.S33S 0.526957 0.4018 0.558392 0.5309 0.3619 Uncertain 11_1651228_C->G 11 1651228 1651228 C G snp 376.77 0/1 99 24 9 15 0.63 exonic rs71454096 KRTAP5-5 AU nonsynonymous SNV NM_001001480 exon1 c.C158G p.A53G 0.654752 0.4157 0.719295 0.2550 0.0231 0.11 T 0.0 P -1.109 T 0.0 T 0.0 T Pathogenic 11_1651540_C->G 11 1651540 1651540 C G snp 942.77 0/1 99 55 21 34 0.62 exonic rs61867581 KRTAP5-5 AU nonsynonymous SNV NM_001001480 exon1 c.C470G p.S157C 0.527955 0.4067 0.590965 0.5470 0.3689 0 D 0.0 P -1.032 T 0.005 T 0.008 T Pathogenic 11_1651550_C->T 11 1651550 1651550 C T snp 944.77 0/1 99 65 28 37 0.57 exonic rs61867582 KRTAP5-5 AU synonymous SNV NM_001001480 exon1 c.C480T p.C160C 0.527955 0.4067 0.594457 0.5471 0.3688 Uncertain 11_1651614_TACTGCTGCCAGTCCAGCTGCTGTAAGCCC->- 11 1651614 1651643 TACTGCTGCCAGTCCAGCTGCTGTAAGCCC - indel 5090.73 0/1 99 113 41 72 0.64 exonic rs576867883 KRTAP5-5 AU nonframeshift deletion NM_001001480 exon1 c.544_573del p.182_191del 0.4642 0.3853 ID=COSM253911;OCCURENCE=2(urinary_tract) Uncertain 11_1651830_G->T 11 1651830 1651830 G T snp 1330.77 0/1 99 116 57 59 0.51 UTR3 rs4752770 KRTAP5-5 AU 0.540735 0.3899 0.610248 0.5523 0.3563 Uncertain 11_1651917_C->T 11 1651917 1651917 C T snp 321.77 0/1 99 21 10 11 0.52 UTR3 rs4752769 KRTAP5-5 AU 0.560104 0.3998 Uncertain 11_1756738_C->T 11 1756738 1756738 C T snp 541.77 0/1 99 33 15 18 0.55 intronic rs4752754 IFITM10 AU NM_001170820 exon1 c.150+79C>T 0.0537141 0.1786 Uncertain 11_1776025_C->- 11 1776025 1776025 C - indel 1008.73 1/1 78 26 0 26 1.0 intronic rs398015183 CTSD AR NM_001909 exon4 c.1403-110delC 1 1 Uncertain 11_1853107_C->T 11 1853107 1853107 C T snp 1079.77 0/1 99 124 71 53 0.43 intergenic rs616594 CTSD AR 0.741014 0.6349 0.8333 0.6011 0.01 T 0.0 P -1.076 T Uncertain 11_1855854_G->C 11 1855854 1855854 G C snp 1308.77 0/1 99 152 88 64 0.42 intronic rs2063551 SYT8 AU NM_001290333 exon1 c.33+7G>C 0.735823 0.6399 0.761479 0.7861 0.6668 Uncertain 11_1856985_T->A 11 1856985 1856985 T A snp 40.77 0/1 69 5 3 2 0.4 intronic rs562401 SYT8 AU NM_138567 exon4 c.1314-130T>A 0.528954 0.6558 Uncertain 11_1857042_G->T 11 1857042 1857042 G T snp 576.77 0/1 99 37 15 22 0.59 intronic rs907605 SYT8 AU NM_138567 exon4 c.1314-73G>T 0.386182 0.3393 Uncertain 11_1857112_C->A 11 1857112 1857112 C A snp 1977.77 0/1 99 117 43 74 0.63 splicing rs907606 SYT8 AU NM_138567 exon4 c.1314-3C>A 0.276957 0.2649 0.348769 0.3875 0.2831 Pathogenic 11_1857173_T->C 11 1857173 1857173 T C snp 5494.77 1/1 99 197 0 197 1.0 exonic rs564271 SYT8 AU nonsynonymous SNV NM_001290332 exon4 c.T361C p.C121R 0.983227 1 0.983926 0.9957 1 0.83 T 0.0 P -0.993 T 0.0 T 0.0 T Pathogenic 11_1857747_T->C 11 1857747 1857747 T C snp 1716.77 0/1 99 156 80 76 0.49 exonic rs3741232 SYT8 AU synonymous SNV NM_001290332 exon6 c.T654C p.R218R 0.337859 0.3026 0.342288 0.3906 0.3126 0.0 P -0.929 T Likely benign 11_1857751_C->G 11 1857751 1857751 C G snp 1667.77 0/1 99 153 79 74 0.48 exonic rs3741231 SYT8 AU nonsynonymous SNV NM_001290332 exon6 c.C658G p.P220A 0.337859 0.3026 0.340028 0.3886 0.3112 0.04 T 0.879 P -0.915 T 0.666 T 0.162 P Pathogenic 11_1857930_G->A 11 1857930 1857930 G A snp 585.77 0/1 99 45 21 24 0.53 intronic rs3741229 SYT8 AU NM_138567 exon7 c.2184-55G>A 0.433307 0.374 Uncertain 11_1858262_C->T 11 1858262 1858262 C T snp 1924.77 0/1 99 189 103 86 0.46 exonic rs484955 SYT8 AU nonsynonymous SNV NM_001290332 exon8 c.C911T p.T304M 0.185503 0.4137 0.100369 0.1483 0.3868 0 D 1.0 P -1.002 T 1.0 D 0.993 D Pathogenic 11_1858572_C->T 11 1858572 1858572 C T snp 1463.77 0/1 99 123 64 59 0.48 exonic rs2292474 SYT8 AU nonsynonymous SNV NM_001290332 exon9 c.C1120T p.R374W 0.384984 0.378 0.388360 0.4903 0.3996 1 T 1.0 P -0.948 T 0.0 T 0.0 T Pathogenic 11_1861225_C->A 11 1861225 1861225 C A snp 641.77 0/1 99 39 18 21 0.54 intronic rs1877444 TNNI2 AD NM_003282 exon2 c.13+286C>A 0.173722 0.2153 CLINSIG=untested;CLNDBN=not_provided;CLNREVSTAT=no_assertion_provided;CLNACC=RCV000128662.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Uncertain 11_1861760_T->C 11 1861760 1861760 T C snp 2956.77 1/1 99 102 0 102 1.0 exonic rs907610 TNNI2 AD unknown 0.827676 0.9861 0.803241 0.8760 0.9879 CLINSIG=untested;CLNDBN=not_provided;CLNREVSTAT=no_assertion_provided;CLNACC=RCV000128669.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Uncertain 11_1862168_C->T 11 1862168 1862168 C T snp 1828.77 0/1 99 176 91 85 0.48 intronic rs2271442 TNNI2 AD NM_003282 exon5 c.1212+30C>T 0.176917 0.2123 0.199661 0.2659 0.2831 Uncertain 11_1874221_C->T 11 1874221 1874221 C T snp 331.77 0/1 99 21 10 11 0.52 UTR5 rs907612 LSP1 AU 0.390375 0.3155 Uncertain 11_1874266_C->T 11 1874266 1874266 C T snp 440.77 0/1 99 46 21 25 0.54 UTR5 rs2089909 LSP1 AU 0.29393 0.4643 Uncertain 11_1874292_G->A 11 1874292 1874292 G A snp 643.77 0/1 99 58 31 27 0.47 UTR5 rs907613 LSP1 AU 0.232827 0.2391 Uncertain 11_1874404_C->T 11 1874404 1874404 C T snp 1015.77 0/1 99 99 59 40 0.4 exonic rs2089910 LSP1 AU synonymous SNV NM_002339 exon1 c.C30T p.A10A 0.291933 0.4623 0.240721 0.2709 0.4880 Uncertain 11_1880596_C->G 11 1880596 1880596 C G snp 203.77 0/1 60 9 2 7 0.78 intronic rs7929314 LSP1 AU NM_002339 exon1 c.53+6169C>G 0.259984 0.253 Uncertain 11_1880811_G->A 11 1880811 1880811 G A snp 1261.77 1/1 90 46 0 46 1.0 intronic rs571122 LSP1 AU NM_002339 exon1 c.53+6384G>A 0.623203 0.7798 0.6037 0.75 Uncertain 11_1887806_T->A 11 1887806 1887806 T A snp 4276.77 1/1 99 158 0 158 1.0 exonic rs7938342 LSP1 AU nonsynonymous SNV NM_001242932 exon2 c.T102A p.H34Q 0.624401 0.7688 0.5520 0.7301 1 T 0.0 P -0.945 T 0.531 P 0.104 P Pathogenic 11_1890743_C->T 11 1890743 1890743 C T snp 195.77 0/1 99 9 3 6 0.67 intronic rs55699011 LSP1 AU NM_001242932 exon2 c.437+2602C>T 0.0115815 Uncertain 11_1890810_G->A 11 1890810 1890810 G A snp 1118.77 1/1 81 41 0 41 1.0 intronic rs501124 LSP1 AU NM_001242932 exon2 c.437+2669G>A 0.79353 0.9157 Uncertain 11_1890990_G->A 11 1890990 1890990 G A snp 1917.77 1/1 99 78 0 78 1.0 intronic rs592373 LSP1 AU NM_001242932 exon2 c.437+2849G>A 0.561701 0.7758 0.5462 0.7348 Uncertain 11_1891035_-->A 11 1891035 1891035 - A indel 1369.73 1/1 96 34 0 34 1.0 intronic rs61278563 LSP1 AU NM_001242932 exon2 c.437+2894insA 1 1 Uncertain 11_1891284_T->A 11 1891284 1891284 T A snp 665.77 1/1 51 20 0 20 1.0 intronic rs688601 LSP1 AU NM_001242932 exon2 c.437+3143T>A 0.636781 0.875 Uncertain 11_1891722_C->T 11 1891722 1891722 C T snp 1949.77 1/1 99 70 0 70 1.0 UTR5 rs686722 LSP1 AU 0.361821 0.6369 0.3862 0.6006 0 D 0.000 P -0.958 T Uncertain 11_1901467_A->C 11 1901467 1901467 A C snp 332.77 0/1 99 28 16 12 0.43 intronic rs2271439 LSP1 AU NM_002339 exon2 c.27080+13A>C 0.702476 0.4454 0.803648 0.7834 0.4548 Uncertain 11_1902635_G->T 11 1902635 1902635 G T snp 561.77 1/1 42 23 0 23 1.0 intronic rs536462 LSP1 AU NM_002339 exon3 c.28287-26G>T 0.935703 0.999 0.922031 0.9583 0.9994 Uncertain 11_1902768_G->A 11 1902768 1902768 G A snp 1079.77 1/1 78 42 0 42 1.0 exonic rs621679 LSP1 AU nonsynonymous SNV NM_001013253 exon3 c.G112A p.A38T 0.396965 0.5863 0.329335 0.3945 0.6281 1 T 0.0 P -1.062 T 0.114 T 0.009 T Pathogenic 11_1905292_T->C 11 1905292 1905292 T C snp 5139.77 1/1 99 207 1 206 1.0 intronic rs661348 LSP1 AU NM_002339 exon5 c.30880+38T>C 0.381789 0.5863 0.339486 0.4228 0.5975 Uncertain 11_1910707_T->C 11 1910707 1910707 T C snp 2589.77 1/1 99 83 0 83 1.0 intronic rs613638 LSP1 AU NM_002339 exon10 c.34432+1901T>C 0.971645 1 0.9761 1 0.49 T 0.000 P -0.989 T Uncertain 11_1911115_T->C 11 1911115 1911115 T C snp 2019.77 1/1 99 72 0 72 1.0 intronic rs11041692 LSP1 AU NM_002339 exon11 c.38628-1887T>C 0.920727 0.999 0.9153 1 0.79 T 0.0 P -0.987 T Uncertain 11_1911890_T->C 11 1911890 1911890 T C snp 209.84 1/1 18 6 0 6 1.0 intronic rs629781 LSP1 AU NM_002339 exon11 c.38628-1112T>C 0.971845 0.999 Uncertain 11_1944202_A->G 11 1944202 1944202 A G snp 4385.77 1/1 99 154 0 154 1.0 intronic rs965912 TNNT3 AD NM_006757 exon3 c.173-75A>G 0.779752 0.9206 0.723390 CLINSIG=untested;CLNDBN=not_provided;CLNREVSTAT=no_assertion_provided;CLNACC=RCV000024564.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Uncertain 11_1944636_A->T 11 1944636 1944636 A T snp 1243.77 1/1 93 32 0 32 1.0 intronic rs2734500 TNNT3 AD NM_006757 exon4 c.680-148A>T 0.810503 0.9226 CLINSIG=untested;CLNDBN=not_provided;CLNREVSTAT=no_assertion_provided;CLNACC=RCV000024565.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Uncertain 11_1944937_T->C 11 1944937 1944937 T C snp 510.77 0/1 99 35 18 17 0.49 intronic rs3781958 TNNT3 AD NM_006757 exon4 c.698+135T>C 0.00419329 0.0208 Uncertain 11_1947575_C->A 11 1947575 1947575 C A snp 5576.77 1/1 99 191 1 190 0.99 intronic rs540710 TNNT3 AD NM_001042781 exon7 c.3595-124C>A 0.405351 0.6111 Uncertain 11_1947793_C->T 11 1947793 1947793 C T snp 4843.77 1/1 99 149 0 149 1.0 intronic rs686389 TNNT3 AD NM_001042781 exon7 c.3607+82C>T 0.391174 0.5903 0.298949 Uncertain 11_1950302_A->G 11 1950302 1950302 A G snp 6785.77 1/1 99 250 0 250 1.0 intronic rs629990 TNNT3 AD NM_006757 exon7 c.6245-47A>G 0.824281 0.9256 0.799954 0.8071 0.9136 Uncertain 11_1950906_T->G 11 1950906 1950906 T G snp 797.84 1/1 18 34 2 32 0.94 intronic rs2292473 TNNT3 AD NM_006757 exon8 c.6935-133T>G 0.82508 0.9256 Uncertain 11_1950925_T->C 11 1950925 1950925 T C snp 953.77 1/1 33 40 1 39 0.97 intronic rs2292471 TNNT3 AD NM_006757 exon8 c.6935-114T>C 0.82488 0.9266 Uncertain 11_1956212_T->C 11 1956212 1956212 T C snp 4472.77 1/1 99 160 0 160 1.0 intronic rs513735 TNNT3 AD NM_006757 exon14 c.12045+63T>C 0.794928 0.8621 Uncertain 11_1956338_G->C 11 1956338 1956338 G C snp 337.78 1/1 27 9 0 9 1.0 intronic rs491040 TNNT3 AD NM_006757 exon14 c.12045+189G>C 0.678115 0.744 Uncertain 11_1956342_G->T 11 1956342 1956342 G T snp 216.84 1/1 18 7 0 7 1.0 intronic rs585405 TNNT3 AD NM_006757 exon14 c.12045+193G>T 0.678115 0.744 Uncertain 11_1961691_TC->- 11 1961691 1961692 TC - indel 295.75 1/1 24 8 0 8 1.0 intergenic rs56135300 TNNT3 AD Uncertain 11_1968455_C->G 11 1968455 1968455 C G snp 261.8 1/1 21 8 0 8 1.0 upstream rs907601 MRPL23 AU 0.665335 0.5327 Uncertain 11_1971962_C->T 11 1971962 1971962 C T snp 772.77 1/1 60 20 0 20 1.0 intronic rs217202 MRPL23 AU NM_021134 exon2 c.3536-166C>T 0.651158 0.7252 Uncertain 11_1973204_C->T 11 1973204 1973204 C T snp 233.77 0/1 99 16 7 9 0.56 intronic MRPL23 AU NM_021134 exon3 c.4764-152C>T Uncertain 11_1973205_T->C 11 1973205 1973205 T C snp 543.77 1/1 42 17 0 17 1.0 intronic rs217205 MRPL23 AU NM_021134 exon3 c.4764-151T>C 0.722244 0.746 Uncertain 11_1976988_A->G 11 1976988 1976988 A G snp 2557.77 1/1 99 102 0 102 1.0 intronic rs177720 MRPL23 AU NM_021134 exon5 c.8893-497A>G 0.999002 1 Uncertain 11_1983338_C->T 11 1983338 1983338 C T snp 218.84 1/1 18 6 0 6 1.0 intergenic rs217239 MRPL23 AU 0.96845 1 Uncertain 11_1983701_C->T 11 1983701 1983701 C T snp 345.78 1/1 27 10 0 10 1.0 intergenic rs217241 MRPL23 AU 0.968051 1 0.9936 1 Uncertain 11_1993884_G->A 11 1993884 1993884 G A snp 370.77 0/1 99 41 23 18 0.44 intergenic rs217734 MRPL23 AU 0.0203674 0.0181 0.0041 Uncertain 11_1993975_C->A 11 1993975 1993975 C A snp 1535.77 1/1 99 58 0 58 1.0 intergenic rs190063 MRPL23 AU 0.78095 0.7857 0.7049 0.7648 0.02 T 0.0 P -1.025 T Uncertain 11_2005794_C->A 11 2005794 2005794 C A snp 1462.77 1/1 99 43 0 43 1.0 ncRNA_exonic rs71455916 MRPL23-AS1 AU 0.281749 0.2986 0.2268 0.3088 Uncertain 11_2016908_G->A 11 2016908 2016908 G A snp 1964.77 1/1 99 68 0 68 1.0 ncRNA_exonic rs217727 H19 AD,AO 0.202077 0.3194 0.155148 0.2000 0.3576 ID=CR055623;DIS=Birthweight, association with;TAG=DP;PUB=15885138 DP Uncertain 11_2161858_A->G 11 2161858 2161858 A G snp 1098.77 0/1 99 73 29 44 0.6 ncRNA_exonic rs3741212 IGF2-AS AU 0.681709 0.8859 0.647944 0.7401 0.9008 Uncertain 11_2167499_G->A 11 2167499 2167499 G A snp 2929.77 0/1 99 242 112 130 0.54 ncRNA_exonic rs201665565 IGF2-AS AU 0.000199681 0.0002 0 0 D 1 N -1.010 T 0.037 T 0.003 T Uncertain 11_2167618_A->G 11 2167618 2167618 A G snp 1800.77 0/1 99 160 86 74 0.46 ncRNA_exonic rs1003484 IGF2-AS AU 0.598043 0.504 0.686582 0.6848 0.4581 0 D 0.0 P -0.954 T 0.0 T 0.0 T Uncertain 11_2181060_T->G 11 2181060 2181060 T G snp 712.77 0/1 99 77 42 35 0.45 UTR3 rs3842753 INS AD 0.649161 0.9415 0.547553 0.7378 0.9533 0 D 0.000 P -0.893 T Uncertain 11_2181073_G->A 11 2181073 2181073 G A snp 1212.77 0/1 99 84 35 49 0.58 UTR3 rs3842752 INS AD 0.126797 0.0486 0.178158 0.1892 0.0411 0 D 0.0 P -1.020 T ID=CR032720;DIS=Prostate cancer, reduced risk, association with;TAG=DP;PUB=12610512 DP Uncertain 11_2182004_A->G 11 2182004 2182004 A G snp 2717.77 1/1 99 103 0 103 1.0 intronic rs5506 INS AD NM_001185097 exon2 c.933-10A>G 0.933906 1 0.931871 0.9805 1 Uncertain 11_2182224_A->T 11 2182224 2182224 A T snp 495.77 0/1 99 30 14 16 0.53 splicing rs689 INS AD NM_001185097 exon2 c.1137+6A>T 0.649561 0.9415 0.567140 0.7268 0.9535 Pathogenic 11_2187071_T->C 11 2187071 2187071 T C snp 2975.77 1/1 99 92 0 92 1.0 intronic rs6578990 TH AR NM_000360 exon3 c.1531+78T>C 0.911741 1 Uncertain 11_2187398_T->G 11 2187398 2187398 T G snp 690.77 1/1 54 20 0 20 1.0 intronic rs4072823 TH AR NM_000360 exon4 c.1826+110T>G 0.916534 1 Uncertain 11_2187855_G->C 11 2187855 2187855 G C snp 1375.77 0/1 99 115 54 61 0.53 intronic rs12419447 TH AR NM_000360 exon6 c.2400-7G>C 0.179912 0.0496 0.261890 0.3690 0.0724 Uncertain 11_2188238_C->T 11 2188238 2188238 C T snp 668.77 0/1 99 71 38 33 0.46 exonic rs6357 TH AR synonymous SNV NM_199292 exon8 c.G813A p.K271K 0.154553 0.0486 0.247137 0.3060 0.0651 Uncertain 11_2188566_C->T 11 2188566 2188566 C T snp 1046.77 1/1 78 32 0 32 1.0 intronic rs7925924 TH AR NM_000360 exon8 c.3202-98C>T 0.915535 1 Uncertain 11_2189185_G->A 11 2189185 2189185 G A snp 498.77 0/1 99 45 19 26 0.58 intronic rs4074905 TH AR NM_000360 exon9 c.3701+22G>A 0.705671 0.9474 0.602465 0.7195 0.9612 Uncertain 11_2189983_C->T 11 2189983 2189983 C T snp 125.77 0/1 99 9 4 5 0.56 intronic rs4930043 TH AR NM_000360 exon11 c.4433+88C>T 0.142971 0.0486 Uncertain 11_2190951_C->T 11 2190951 2190951 C T snp 835.77 0/1 99 80 40 40 0.5 exonic rs6356 TH AR nonsynonymous SNV NM_199292 exon3 c.G334A p.V112M 0.430511 0.7877 0.288000 0.4249 0.7934 0.24 T 0.0 P -0.950 T 0.106 T 0.033 T CLINSIG=non-pathogenic;CLNDBN=Segawa_syndrome\x2c_autosomal_recessive;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000021078.1;CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet;CLNDSDBID=NBK1437:C1854299:605407:ORPHA101150 ID=CM1213128;DIS=Alcoholism, association with;TAG=DP;PUB=22560290 DP Pathogenic 11_2194175_T->C 11 2194175 2194175 T C snp 2599.77 1/1 99 86 0 86 1.0 upstream rs10743149 MIR4686 AU 0.917133 0.9643 Uncertain 11_2194420_G->C 11 2194420 2194420 G C snp 1004.77 0/1 99 50 16 34 0.68 downstream rs10770142 MIR4686 AU 0.696486 0.9127 Uncertain 11_2320600_C->T 11 2320600 2320600 C T snp 229.77 0/1 99 23 12 11 0.48 intronic rs746454762 C11orf21 AU Uncertain 11_2324852_A->C 11 2324852 2324852 A C snp 31.77 0/1 60 10 7 3 0.3 intronic rs2651824 TSPAN32 AU NM_139022 exon3 c.1957-484A>C 0.992212 1 Uncertain 11_2337012_G->C 11 2337012 2337012 G C snp 137.77 0/1 99 20 13 7 0.35 intronic rs11022252 TSPAN32 AU NM_139022 exon7 c.14079-446G>C 0.994209 1 Uncertain 11_2337218_G->A 11 2337218 2337218 G A snp 1326.77 0/1 99 143 77 66 0.46 intronic rs12576824 TSPAN32 AU NM_139022 exon7 c.14079-240G>A 0.0840655 0.381 0.0158 0.4179 Uncertain 11_2356823_C->T 11 2356823 2356823 C T snp 2713.77 0/1 99 250 142 108 0.43 ncRNA_intronic rs72636998 CD81-AS1 AU 0.0748802 0.3601 0.0321 0.3739 Uncertain 11_2424684_A->C 11 2424684 2424684 A C snp 1573.77 0/1 99 122 51 71 0.58 exonic rs2234283 TSSC4 AU nonsynonymous SNV NM_005706 exon3 c.A821C p.H274P 0.996605 1 0.993215 0.9936 1 0.61 T 0.0 P -0.954 T 0.0 T 0.0 T Pathogenic 11_2427291_A->C 11 2427291 2427291 A C snp 3094.77 0/1 99 250 130 120 0.48 exonic rs800342 TRPM5 AU synonymous SNV NM_014555 exon22 c.T3282G p.G1094G 0.774361 0.5387 0.873635 0.8101 0.5470 Uncertain 11_2428675_C->T 11 2428675 2428675 C T snp 83.77 0/1 69 5 2 3 0.6 intronic rs3815062 TRPM5 AU NM_014555 exon5 c.2364+145C>T 0.161142 0.3125 Uncertain 11_2432820_A->G 11 2432820 2432820 A G snp 2683.77 0/1 99 230 117 113 0.49 intronic rs2651822 TRPM5 AU NM_014555 exon8 c.6698-44A>G 0.918331 0.9573 0.847960 0.8507 0.9429 Uncertain 11_2435910_-->C 11 2435910 2435910 - C indel 584.73 0/1 99 33 16 17 0.52 intronic rs386372927 TRPM5 AU NM_014555 exon14 c.9778-34insC 0.538938 0.6607 0.493519 0.5279 0.7584 Uncertain 11_2435931_C->T 11 2435931 2435931 C T snp 533.77 0/1 99 44 22 22 0.5 intronic rs4929980 TRPM5 AU NM_014555 exon14 c.9778-13C>T 0.522364 0.6607 0.409885 0.5105 0.7377 Uncertain 11_2435946_A->G 11 2435946 2435946 A G snp 528.77 0/1 99 54 30 24 0.44 exonic rs4929981 TRPM5 AU synonymous SNV NM_014555 exon11 c.T1743C p.L581L 0.760383 0.9048 0.731559 0.7511 0.8947 Uncertain 11_2435956_C->T 11 2435956 2435956 C T snp 546.77 0/1 99 59 33 26 0.44 exonic rs4929982 TRPM5 AU nonsynonymous SNV NM_014555 exon11 c.G1733A p.R578Q 0.528954 0.6597 0.431068 0.4765 0.7114 1 T 0.000 P -0.921 T 0.0 T 0.001 T Pathogenic 11_2439542_A->G 11 2439542 2439542 A G snp 956.77 0/1 99 87 43 44 0.51 exonic rs3986599 TRPM5 AU nonsynonymous SNV NM_014555 exon6 c.T761C p.V254A 0.843251 0.9008 0.750971 0.7610 0.8936 0.46 T 0.000 P -1.012 T 0.0 T 0.0 T Pathogenic 11_2439621_A->T 11 2439621 2439621 A T snp 167.77 0/1 99 20 13 7 0.35 intronic rs2074236 TRPM5 AU NM_014555 exon19 c.13422+33A>T 0.522564 0.6607 0.434252 0.4554 0.6702 Uncertain 11_2439651_G->T 11 2439651 2439651 G T snp 176.77 0/1 99 17 11 6 0.35 intronic rs886276 TRPM5 AU NM_014555 exon19 c.13422+63G>T 0.528155 0.6607 Uncertain 11_2439672_-->C 11 2439672 2439672 - C indel 380.73 0/1 99 29 16 13 0.45 intronic rs147746598 TRPM5 AU NM_014555 exon20 c.13590-84insC 0.536941 0.6607 Uncertain 11_2439767_T->C 11 2439767 2439767 T C snp 1694.77 0/1 99 148 71 77 0.52 exonic rs886277 TRPM5 AU nonsynonymous SNV NM_014555 exon5 c.A704G p.N235S 0.53734 0.6607 0.462279 0.4641 0.6780 0.8 T 0.000 P -0.940 T 0.0 T 0.0 T Pathogenic 11_2439876_G->A 11 2439876 2439876 G A snp 1972.77 0/1 99 161 81 80 0.5 intronic rs886278 TRPM5 AU NM_014555 exon20 c.13655+55G>A 0.509784 0.6577 0.416557 Uncertain 11_2440041_T->C 11 2440041 2440041 T C snp 284.77 0/1 99 19 10 9 0.47 intronic rs4244810 TRPM5 AU NM_014555 exon20 c.13655+220T>C 0.534744 0.6597 Uncertain 11_2441686_-->G 11 2441686 2441686 - G indel 508.73 0/1 99 40 19 21 0.53 intronic rs35998237 TRPM5 AU NM_014555 exon21 c.15469+51insG 0.752796 0.8462 0.671862 0.7222 0.8498 Uncertain 11_2443938_G->C 11 2443938 2443938 G C snp 96.28 1/1 9 3 0 3 1.0 intronic rs7122941 TRPM5 AU NM_014555 exon24 c.17983-211G>C 0.492612 0.6151 Uncertain 11_2593416_A->G 11 2593416 2593416 A G snp 557.77 1/1 42 19 0 19 1.0 intronic rs12786951 KCNQ1 AR,AD,AU NM_000218 exon5 c.127011+77A>G 0.328874 0.5724 Uncertain 11_2593977_A->G 11 2593977 2593977 A G snp 1142.77 1/1 84 30 0 30 1.0 intronic rs4930127 KCNQ1 AR,AD,AU NM_000218 exon6 c.127747-98A>G 0.468251 0.6101 Uncertain 11_2604437_A->G 11 2604437 2604437 A G snp 80.28 1/1 9 3 0 3 1.0 intronic rs2012323 KCNQ1 AR,AD,AU NM_000218 exon7 c.138336-227A>G 0.780751 0.9167 Uncertain 11_2683177_C->T 11 2683177 2683177 C T snp 2224.77 0/1 99 195 96 99 0.51 ncRNA_exonic rs28730758 KCNQ1OT1 AD 0.0129792 0.0347 0.010460 0.0108 0.0455 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000035340.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 11_2789856_A->G 11 2789856 2789856 A G snp 332.78 1/1 27 11 0 11 1.0 intronic rs163161 KCNQ1 AR,AD,AU NM_000218 exon12 c.323745-217A>G 0.994808 1 Uncertain 11_2790019_G->A 11 2790019 2790019 G A snp 1667.77 0/1 99 139 66 73 0.53 intronic rs2075870 KCNQ1 AR,AD,AU NM_000218 exon12 c.323745-54G>A 0.0908546 0.2073 0.052343 Uncertain 11_2797320_A->G 11 2797320 2797320 A G snp 1113.77 1/1 81 37 0 37 1.0 intronic rs163150 KCNQ1 AR,AD,AU NM_000218 exon13 c.330956+36A>G 0.668331 0.7073 0.667933 0.6896 0.7178 Uncertain 11_2798305_T->C 11 2798305 2798305 T C snp 1779.77 0/1 99 148 71 77 0.52 intronic rs81204 KCNQ1 AR,AD,AU NM_000218 exon14 c.331934+43T>C 0.223842 0.2688 0.204031 0.2283 0.2670 Uncertain 11_2798448_A->G 11 2798448 2798448 A G snp 1166.77 1/1 87 35 0 35 1.0 intronic rs163148 KCNQ1 AR,AD,AU NM_000218 exon14 c.331934+186A>G 0.999002 1 Uncertain 11_2868878_T->C 11 2868878 2868878 T C snp 1362.77 0/1 99 97 47 50 0.52 ncRNA_intronic rs3852520 KCNQ1-AS1 AU 0.530351 0.8383 Uncertain 11_2905204_-->C 11 2905204 2905204 - C indel 1454.73 0/1 99 138 70 68 0.49 intronic rs34289096 CDKN1C AD 0.372604 0.6319 0.264087 0.4283 0.6689 Uncertain 11_2906012_C->T 11 2906012 2906012 C T snp 1145.77 0/1 99 93 40 53 0.57 exonic rs3741341 CDKN1C AD synonymous SNV NM_000076 exon1 c.G708A p.E236E 0.00459265 0.0129 0.000286 0.0060 0.0378 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000145551.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 11_2909393_G->T 11 2909393 2909393 G T snp 1072.77 0/1 99 81 36 45 0.56 UTR3 rs72850017 SLC22A18AS AU 0.0948482 0.1558 0.0887 0.1503 Uncertain 11_2909513_C->G 11 2909513 2909513 C G snp 182.77 0/1 99 149 97 52 0.35 exonic rs190533743 SLC22A18AS AU nonsynonymous SNV NM_001302862 exon3 c.G350C p.R117P 9.889e-05 0 0 D 1 N -1.074 T 0.0 T 0.0 T Pathogenic 11_2920666_C->T 11 2920666 2920666 C T snp 1350.77 0/1 99 106 52 54 0.51 exonic rs365605 SLC22A18AS AU nonsynonymous SNV NM_007105 exon3 c.G266A p.G89D 0.613019 0.3958 0.679150 0.6268 0.3662 0 D 0.000 P -1.002 T 0.0 T 0.0 T Pathogenic 11_2920954_A->- 11 2920954 2920954 A - indel 1931.73 0/1 99 137 51 86 0.63 UTR5 rs398075678 SLC22A18 AU 0.160144 0.4325 0.078016 0.1197 0.5037 Uncertain 11_2924589_G->A 11 2924589 2924589 G A snp 1461.77 0/1 99 117 58 59 0.5 exonic rs145584690 SLC22A18 AU nonsynonymous SNV NM_002555 exon2 c.G14A p.R5Q 0.00119808 0.006 0.000538 0.0008 0.0079 0.44 T 1 N -1.073 T 0.395 T 0.019 T Pathogenic 11_2924610_G->A 11 2924610 2924610 G A snp 1747.77 0/1 99 149 80 69 0.46 exonic rs1048047 SLC22A18 AU nonsynonymous SNV NM_002555 exon2 c.G35A p.R12Q 0.607628 0.7579 0.542609 0.6087 0.7745 1 T 0.0 P -0.959 T 0.001 T 0.0 T Pathogenic 11_2924850_-->C 11 2924850 2924850 - C indel 1447.73 1/1 99 38 0 38 1.0 UTR5 rs34816459 SLC22A18AS AU 0.634585 0.7659 Uncertain 11_2929552_A->G 11 2929552 2929552 A G snp 2131.77 1/1 99 81 0 81 1.0 exonic rs429886 SLC22A18 AU synonymous SNV NM_002555 exon3 c.A234G p.V78V 0.750599 0.8006 0.732810 0.7485 0.8182 Uncertain 11_2929659_G->A 11 2929659 2929659 G A snp 141.77 0/1 99 12 7 5 0.42 intronic rs424663 SLC22A18 AU NM_183233 exon3 c.4985+99G>A 0.424121 0.75 Uncertain 11_2929666_C->G 11 2929666 2929666 C G snp 191.77 0/1 99 11 4 7 0.64 intronic rs184216791 SLC22A18 AU NM_183233 exon3 c.4985+106C>G 0.00139776 0.0069 Uncertain 11_2930595_G->- 11 2930595 2930595 G - indel 293.74 1/1 27 10 0 10 1.0 intronic rs398015206 SLC22A18 AU NM_183233 exon4 c.6011+9delG 0.976438 0.9881 0.997536 1 1 Uncertain 11_2930839_A->G 11 2930839 2930839 A G snp 491.77 0/1 99 68 41 27 0.4 exonic rs182004698 SLC22A18 AU synonymous SNV NM_002555 exon5 c.A435G p.A145A 0.0341454 0.0069 0.017203 0.0125 0.0061 ID=COSM3666900;OCCURENCE=1(liver) Uncertain 11_2931012_C->T 11 2931012 2931012 C T snp 351.77 0/1 99 43 24 19 0.44 intronic rs185305467 SLC22A18 AU NM_183233 exon5 c.6365+72C>T 0.00139776 0.0069 Uncertain 11_2939392_G->A 11 2939392 2939392 G A snp 4786.77 1/1 99 181 0 181 1.0 intronic rs445679 SLC22A18 AU NM_183233 exon7 c.14750+67G>A 0.98103 1 Uncertain 11_2943494_G->A 11 2943494 2943494 G A snp 1144.77 0/1 99 87 38 49 0.56 intronic rs144623768 SLC22A18 AU NM_183233 exon9 c.18858+61G>A 0.00179712 0.0079 Uncertain 11_2943644_C->T 11 2943644 2943644 C T snp 1368.77 0/1 99 113 59 54 0.48 intronic rs181204043 SLC22A18 AU NM_183233 exon10 c.19090-21C>T 0.00159744 0.0079 0.0007 0.0095 Uncertain 11_2943651_C->T 11 2943651 2943651 C T snp 1423.77 0/1 99 124 67 57 0.46 intronic rs3847645 SLC22A18 AU NM_183233 exon10 c.19090-14C>T 0.0626997 0.0079 0.068273 0.0233 0.0100 Uncertain 11_2979798_G->T 11 2979798 2979798 G T snp 730.77 0/1 99 102 68 34 0.33 intronic rs7940694 NAP1L4 AU NM_005969 exon7 c.9286+24G>T 0.897564 0.9127 0.827295 0.8278 0.9103 Uncertain 11_2990985_G->A 11 2990985 2990985 G A snp 520.77 0/1 99 63 38 25 0.4 intronic rs61871241 NAP1L4 AU NM_005969 exon10 c.20544-47G>A 0.101438 0.0218 0.145573 0.1296 0.0210 Uncertain 11_2991219_C->G 11 2991219 2991219 C G snp 416.77 0/1 99 36 18 18 0.5 intronic rs2071110 NAP1L4 AU NM_005969 exon10 c.20676+55C>G 0.388778 0.7173 Uncertain 11_3026692_T->G 11 3026692 3026692 T G snp 963.77 0/1 99 80 42 38 0.47 intronic rs4758458 CARS AU NM_001194997 exon4 c.4246+29T>G 0.88738 0.87 0.834769 0.8308 0.8645 Uncertain 11_3026712_C->T 11 3026712 3026712 C T snp 549.77 0/1 99 61 36 25 0.41 intronic rs7931504 CARS AU NM_001194997 exon4 c.4246+49C>T 0.334465 0.1984 0.380077 0.3792 0.2265 Uncertain 11_3028270_A->G 11 3028270 3028270 A G snp 421.77 0/1 99 34 19 15 0.44 intronic rs7950766 CARS AU NM_001194997 exon5 c.5772+81A>G 0.886182 0.87 Uncertain 11_3033275_G->A 11 3033275 3033275 G A snp 111.77 0/1 99 9 5 4 0.44 intronic rs3782069 CARS AU NM_001194997 exon6 c.11007-149G>A 0.36222 0.1984 Uncertain 11_3036933_G->T 11 3036933 3036933 G T snp 750.77 0/1 99 76 47 29 0.38 intronic rs2071104 CARS AU NM_001194997 exon7 c.14593-77G>T 0.366813 0.2014 Uncertain 11_3039352_C->T 11 3039352 3039352 C T snp 54.74 1/1 6 2 0 2 1.0 intronic rs10833079 CARS AU NM_001194997 exon9 c.16767+168C>T 0.921326 0.869 Uncertain 11_3048140_A->G 11 3048140 3048140 A G snp 954.77 0/1 99 62 26 36 0.58 intronic rs494427 CARS AU NM_001194997 exon14 c.25610+113A>G 0.456869 0.2024 Uncertain 11_3061949_C->A 11 3061949 3061949 C A snp 499.77 0/1 99 53 31 22 0.42 intronic rs2285390 CARS AU NM_001194997 exon20 c.39708-176C>A 0.916534 0.8671 Uncertain 11_3076018_T->C 11 3076018 3076018 T C snp 157.77 0/1 99 14 6 8 0.57 intronic rs7934892 CARS AU NM_001194997 exon23 c.56155-2554T>C Uncertain 11_3076257_C->T 11 3076257 3076257 C T snp 826.77 0/1 99 93 54 39 0.42 intronic rs7945933 CARS AU NM_001194997 exon23 c.56155-2315C>T 0.928714 0.87 Uncertain 11_3078885_T->G 11 3078885 3078885 T G snp 90.28 1/1 9 3 0 3 1.0 upstream rs384490 CARS AU 0.40655 0.1766 Uncertain 11_3109403_A->G 11 3109403 3109403 A G snp 779.77 0/1 99 59 29 30 0.51 UTR3 rs2289999 OSBPL5 AU 0.758786 0.8056 0.702723 0.7043 0.8024 Uncertain 11_3109408_C->T 11 3109408 3109408 C T snp 810.77 0/1 99 59 29 30 0.51 UTR3 rs2289998 OSBPL5 AU 0.758786 0.8056 0.703370 0.7070 0.8039 Uncertain 11_3109426_T->C 11 3109426 3109426 T C snp 902.77 0/1 99 71 35 36 0.51 UTR3 rs10160757 OSBPL5 AU 0.863618 0.8214 0.832615 0.8342 0.8325 Uncertain 11_3110956_C->T 11 3110956 3110956 C T snp 294.77 0/1 99 19 7 12 0.63 intronic rs895564 OSBPL5 AU NM_001144063 exon2 c.1641-119C>T 0.480232 0.7778 Uncertain 11_3110976_A->G 11 3110976 3110976 A G snp 449.77 0/1 99 25 7 18 0.72 intronic rs895563 OSBPL5 AU NM_001144063 exon2 c.1641-99A>G 0.78734 0.8065 Uncertain 11_3114835_G->A 11 3114835 3114835 G A snp 2317.77 0/1 99 172 80 92 0.53 exonic rs748047938 OSBPL5 AU nonsynonymous SNV NM_020896 exon17 c.C1868T p.P623L 4.996e-05 0.0003 0.02 T 1 D -0.643 T 1.0 D 0.981 D Pathogenic 11_3115354_T->C 11 3115354 3115354 T C snp 288.77 0/1 99 24 14 10 0.42 intronic rs9795009 OSBPL5 AU NM_001144063 exon8 c.6032-112T>C 0.852236 0.8323 Uncertain 11_3125719_T->C 11 3125719 3125719 T C snp 271.77 0/1 91 11 3 8 0.73 intronic rs4758525 OSBPL5 AU NM_001144063 exon13 c.16173+112T>C 0.60643 0.7976 Uncertain 11_3128774_T->C 11 3128774 3128774 T C snp 1572.77 0/1 99 105 47 58 0.55 intronic rs3741353 OSBPL5 AU NM_001144063 exon14 c.19251+89T>C 0.406749 0.7827 Uncertain 11_3143030_T->C 11 3143030 3143030 T C snp 126.03 1/1 12 4 0 4 1.0 intronic rs6578322 OSBPL5 AU NM_001144063 exon17 c.33792-196T>C 0.761182 0.4881 Uncertain 11_3150482_A->G 11 3150482 3150482 A G snp 394.77 1/1 30 12 0 12 1.0 intronic rs11025526 OSBPL5 AU NM_001144063 exon20 c.40965+83A>G 0.729034 0.5556 Uncertain 11_3187772_A->G 11 3187772 3187772 A G snp 6231.77 1/1 99 223 0 223 1.0 intergenic rs72848215 OSBPL5 AU 0.178514 0.1607 Uncertain 11_3242833_G->C 11 3242833 3242833 G C snp 1268.77 1/1 93 37 0 37 1.0 ncRNA_exonic rs7929163 MRGPRG-AS1 AU 0.623203 0.756 Uncertain 11_3242907_G->A 11 3242907 3242907 G A snp 1135.77 0/1 99 123 75 48 0.39 ncRNA_exonic rs11602794 MRGPRG-AS1 AU 0.294728 0.4018 0.3755 0.3421 Uncertain 11_3242933_C->T 11 3242933 3242933 C T snp 1373.77 0/1 99 149 90 59 0.4 ncRNA_exonic rs10833491 MRGPRG-AS1 AU 0.58127 0.6131 0.6891 0.5385 Uncertain 11_3242959_A->C 11 3242959 3242959 A C snp 2213.77 0/1 99 177 82 95 0.54 ncRNA_exonic rs11026002 MRGPRG-AS1 AU 0.0407348 0.1438 0.0123 0.2113 0 D 0.0 P -1.050 T 0.618 T 0.032 P Uncertain 11_3243194_T->C 11 3243194 3243194 T C snp 1928.77 0/1 99 184 102 82 0.45 ncRNA_exonic rs11026003 MRGPRG-AS1 AU 0.0369409 0.1429 0.0086 0.2178 Uncertain 11_3243346_C->T 11 3243346 3243346 C T snp 1798.77 1/1 99 64 0 64 1.0 ncRNA_exonic rs11026004 MRGPRG-AS1 AU 0.61901 0.755 0.6501 0.7371 0 D 0.0 P -0.967 T 0.982 D 0.651 D Uncertain 11_3243367_G->T 11 3243367 3243367 G T snp 1441.77 1/1 99 45 0 45 1.0 ncRNA_exonic rs12280457 MRGPRG-AS1 AU 0.61901 0.755 0.6540 0.7398 0 D 0.0 P -0.981 T 0.034 T 0.004 T Uncertain 11_3243427_T->C 11 3243427 3243427 T C snp 528.77 1/1 42 15 0 15 1.0 ncRNA_exonic rs12275900 MRGPRG-AS1 AU 0.629393 0.755 0.6853 0.7778 Uncertain 11_3249081_G->C 11 3249081 3249081 G C snp 367.77 0/1 99 19 7 12 0.63 UTR3 rs11026035 MRGPRE AU 0.0760783 0.123 0.019583 0.1627 0.3364 Uncertain 11_3250208_A->G 11 3250208 3250208 A G snp 182.9 1/1 15 6 0 6 1.0 intronic rs10741876 MRGPRE AU NM_001039165 exon1 c.1000+118A>G 0.845647 0.9643 Uncertain 11_3381369_G->C 11 3381369 3381369 G C snp 1498.77 0/1 99 149 85 64 0.43 exonic rs62619253 ZNF195 AU nonsynonymous SNV NM_007152 exon4 c.C653G p.P218R 0.223842 0.4067 0.129352 0.1672 0.4186 0 D 0.000 P -0.925 T 0.048 T 0.023 T Pathogenic 11_3381843_A->G 11 3381843 3381843 A G snp 292.77 0/1 99 20 10 10 0.5 intronic rs2157763 ZNF195 AU NM_001242843 exon1 c.1448+48A>G 0.636581 0.5903 0.662894 0.6726 0.5838 Uncertain 11_3382069_C->G 11 3382069 3382069 C G snp 3821.77 1/1 99 147 1 146 0.99 intronic rs6578335 ZNF195 AU NM_001242842 exon2 c.1671+51C>G 0.956869 0.995 0.959921 Uncertain 11_3382215_T->C 11 3382215 3382215 T C snp 305.78 1/1 24 9 0 9 1.0 intronic rs6578336 ZNF195 AU NM_001242842 exon2 c.1671+197T>C 0.963059 1 Uncertain 11_3383962_T->C 11 3383962 3383962 T C snp 316.78 1/1 24 12 0 12 1.0 intronic rs10734319 ZNF195 AU NM_001256823 exon2 c.35+130T>C 0.898562 0.9871 Uncertain 11_3388118_A->G 11 3388118 3388118 A G snp 45.77 0/1 74 7 3 4 0.57 intronic rs11026762 ZNF195 AU NM_001242843 exon2 c.11857-4086A>G 0.202276 0.4087 0.2498 0.4 Uncertain 11_3390006_T->C 11 3390006 3390006 T C snp 773.77 0/1 99 86 50 36 0.42 intronic rs7943767 ZNF195 AU NM_001242843 exon2 c.11857-2198T>C 0.69349 0.5784 0.7193 0.5985 Uncertain 11_3390173_A->T 11 3390173 3390173 A T snp 337.77 0/1 99 21 8 13 0.62 intronic rs1989786 ZNF195 AU NM_001242843 exon2 c.11857-2031A>T 0.692292 0.5784 Uncertain 11_3390547_G->C 11 3390547 3390547 G C snp 635.77 1/1 48 19 0 19 1.0 intronic rs7925972 ZNF195 AU NM_001242843 exon2 c.11857-1657G>C 0.898762 0.9871 Uncertain 11_3392351_T->C 11 3392351 3392351 T C snp 1327.77 0/1 99 109 50 59 0.54 intronic rs2269735 ZNF195 AU NM_001242843 exon2 c.11953+51T>C 0.694489 0.5833 0.759347 0.7464 0.5654 Uncertain 11_3392357_T->G 11 3392357 3392357 T G snp 1331.77 0/1 99 102 44 58 0.57 intronic rs2269734 ZNF195 AU NM_001242843 exon2 c.11953+57T>G 0.694489 0.5833 Uncertain 11_3392972_G->A 11 3392972 3392972 G A snp 1961.77 0/1 99 194 104 90 0.46 intronic rs2269732 ZNF195 AU NM_001242843 exon3 c.12586+39G>A 0.68111 0.5833 0.745651 0.7453 0.5698 Uncertain 11_3393111_T->C 11 3393111 3393111 T C snp 201.77 0/1 99 26 17 9 0.35 intronic rs2269731 ZNF195 AU NM_001242843 exon3 c.12586+178T>C 0.694489 0.5833 Uncertain 11_3394894_G->A 11 3394894 3394894 G A snp 1991.77 0/1 99 174 91 83 0.48 UTR5 rs10833820 ZNF195 AU 0.613618 0.5863 Uncertain 11_3394960_A->G 11 3394960 3394960 A G snp 724.77 0/1 99 48 24 24 0.5 intronic rs10833821 ZNF195 AU NM_001256825 exon4 c.14558+55A>G 0.669928 0.5863 Uncertain 11_3394975_C->A 11 3394975 3394975 C A snp 494.77 0/1 99 34 17 17 0.5 intronic rs10833822 ZNF195 AU NM_001256825 exon4 c.14558+70C>A 0.669928 0.5863 Uncertain 11_3398760_G->T 11 3398760 3398760 G T snp 1856.77 1/1 99 65 0 65 1.0 intronic rs7932709 ZNF195 AU NM_001242843 exon5 c.19920-1507G>T 0.930911 0.9871 Uncertain 11_3398795_G->A 11 3398795 3398795 G A snp 2476.77 1/1 99 91 0 91 1.0 intronic rs7932797 ZNF195 AU NM_001242843 exon5 c.19920-1472G>A 0.994409 1 Uncertain 11_3400237_G->T 11 3400237 3400237 G T snp 506.77 0/1 99 57 33 24 0.42 intronic rs2301567 ZNF195 AU NM_001242843 exon5 c.19920-30G>T 0.128794 0.3611 0.039226 0.1485 0.4730 Uncertain 11_3400334_A->G 11 3400334 3400334 A G snp 1929.77 1/1 99 72 0 72 1.0 UTR5 rs7931660 ZNF195 AU 0.873602 0.9871 0.844503 Uncertain 11_3400422_C->T 11 3400422 3400422 C T snp 649.77 1/1 48 23 0 23 1.0 UTR5 rs6578342 ZNF195 AU 0.873602 0.9871 Uncertain 11_3400487_A->C 11 3400487 3400487 A C snp 222.84 1/1 18 6 0 6 1.0 upstream rs6578343 ZNF195 AU 0.873203 0.9871 Uncertain 11_3659993_G->T 11 3659993 3659993 G T snp 1929.77 0/1 99 176 90 86 0.49 exonic rs2271586 ART5 AU nonsynonymous SNV NM_053017 exon4 c.C851A p.T284K 0.299521 0.2252 0.308509 0.2237 0.2528 0.94 T 0.0 P -0.939 T 0.0 T 0.0 T Pathogenic 11_3661140_T->C 11 3661140 3661140 T C snp 3599.77 1/1 99 131 0 131 1.0 exonic rs4910876 ART5 AU synonymous SNV NM_001297668 exon2 c.A519G p.G173G 0.990615 1 0.991768 0.9976 1 1.000 P -1.008 T Likely benign 11_3661585_-->TGG 11 3661585 3661585 - TGG indel 13968.7 1/1 99 241 0 241 1.0 exonic rs3062849 ART5 AU nonframeshift insertion NM_001297668 exon2 c.73_74insCCA p.I25delinsTI 0.967452 1 0.966272 0.9907 1 ID=COSM926764;OCCURENCE=1(endometrium),10(large_intestine) Uncertain 11_3663011_G->A 11 3663011 3663011 G A snp 1917.77 1/1 99 69 0 69 1.0 intronic rs932097 ART5 AU NM_053017 exon4 c.3068-24G>A 0.438698 0.5288 0.431934 0.5612 0.5421 Uncertain 11_3663170_G->C 11 3663170 3663170 G C snp 546.77 1/1 42 17 0 17 1.0 UTR5 rs7111519 ART5 AU 0.902756 0.9236 Uncertain 11_3663201_A->G 11 3663201 3663201 A G snp 182.9 1/1 15 6 0 6 1.0 UTR5 rs7128137 ART5 AU 0.48742 0.5744 Uncertain 11_3663224_G->A 11 3663224 3663224 G A snp 56.74 1/1 6 2 0 2 1.0 UTR5 rs115012337 ART5 AU 0.430911 0.5288 Uncertain 11_3681519_T->C 11 3681519 3681519 T C snp 2066.77 0/1 99 177 97 80 0.45 exonic rs2280134 ART1 AU nonsynonymous SNV NM_004314 exon3 c.T770C p.L257P 0.551717 0.2877 0.614018 0.6454 0.3311 0.0 P -1.022 T 0.0 T 0.0 T Pathogenic 11_3723555_TCTCTCTCTCT->- 11 3723555 3723565 TCTCTCTCTCT - indel 1582.73 1/1 48 16 0 16 1.0 intronic NUP98 AU NM_016320 exon11 c.26304-137_26304-127delTCTCTCTCTCT Uncertain 11_3740574_C->T 11 3740574 3740574 C T snp 334.77 0/1 99 31 17 14 0.45 intronic rs11029446 NUP98 AU NM_005387 exon3 c.6869-67C>T 0.127796 0.1101 Uncertain 11_3799985_G->A 11 3799985 3799985 G A snp 378.77 0/1 99 22 9 13 0.59 intronic rs188044 NUP98 AU NM_005387 exon17 c.66330-117G>A 0.533746 0.4187 Uncertain 11_3829419_G->C 11 3829419 3829419 G C snp 409.77 0/1 99 42 24 18 0.43 upstream rs2278845 PGAP2 AR 0.603834 0.7808 Uncertain 11_3838910_G->C 11 3838910 3838910 G C snp 445.77 0/1 99 43 23 20 0.47 intronic rs7946577 PGAP2 AR NM_001256236 exon4 c.19692+145G>C 0.573283 0.8046 0.6893 0.8134 0.63 T 0.0 P -0.991 T Uncertain 11_3838953_T->C 11 3838953 3838953 T C snp 334.77 0/1 99 33 19 14 0.42 intronic rs10835147 PGAP2 AR NM_001256236 exon4 c.19692+188T>C 0.661941 0.8065 0.7683 0.8060 0.53 T 0.000 P -1.014 T Uncertain 11_4045360_A->T 11 4045360 4045360 A T snp 307.78 1/1 24 9 0 9 1.0 intronic rs10835508 STIM1 AR,AD NM_003156 exon3 c.167717+143A>T 0.322883 0.3363 Uncertain 11_4104060_A->C 11 4104060 4104060 A C snp 1363.77 1/1 99 47 1 46 0.98 intronic rs2898950 STIM1 AR,AD NM_003156 exon9 c.226611-51A>C 0.8125 0.9603 0.799511 Uncertain 11_4104087_T->C 11 4104087 4104087 T C snp 2354.77 1/1 99 79 0 79 1.0 intronic rs10767828 STIM1 AR,AD NM_003156 exon9 c.226611-24T>C 0.663738 0.7758 0.676412 0.8083 0.7558 Uncertain 11_4104355_T->C 11 4104355 4104355 T C snp 2115.77 1/1 99 59 0 59 1.0 intronic rs894455 STIM1 AR,AD NM_003156 exon10 c.226992-137T>C 0.8127 0.9603 Uncertain 11_4104745_C->G 11 4104745 4104745 C G snp 2514.77 1/1 99 81 0 81 1.0 intronic rs2289570 STIM1 AR,AD NM_003156 exon10 c.227228+17C>G 0.812101 0.9603 0.790551 0.8900 0.9515 Uncertain 11_4109709_A->T 11 4109709 4109709 A T snp 555.77 1/1 42 16 0 16 1.0 intronic rs10835604 STIM1 AR,AD NM_001277962 exon12 c.232431-222A>T 0.289537 0.3313 Uncertain 11_4116335_A->C 11 4116335 4116335 A C snp 663.77 1/1 51 27 0 27 1.0 intronic rs12801088 RRM1 AU NM_001033 exon1 c.19+74A>C 0.810104 0.7421 Uncertain 11_4123345_C->G 11 4123345 4123345 C G snp 2626.77 1/1 99 102 0 102 1.0 intronic rs1348310 RRM1 AU NM_001033 exon2 c.7069+34C>G 0.845248 0.7669 0.892890 0.8943 0.7507 Uncertain 11_4133317_C->A 11 4133317 4133317 C A snp 2605.77 1/1 99 91 0 91 1.0 intronic rs56336381 RRM1 AU NM_001033 exon7 c.17050+25C>A 0.832668 0.7669 0.893907 0.8854 0.7467 Uncertain 11_4153407_C->T 11 4153407 4153407 C T snp 222.84 1/1 18 6 0 6 1.0 intronic rs4910890 RRM1 AU NM_001033 exon16 c.37273-108C>T 0.265176 0.2946 Uncertain 11_4153408_A->G 11 4153408 4153408 A G snp 224.84 1/1 18 6 0 6 1.0 intronic rs4910891 RRM1 AU NM_001033 exon16 c.37273-107A>G 0.265575 0.2946 Uncertain 11_4153767_A->G 11 4153767 4153767 A G snp 1152.77 1/1 84 36 0 36 1.0 intronic rs10835662 RRM1 AU NM_001033 exon16 c.37409+116A>G 0.848842 0.7599 Uncertain 11_4156661_G->A 11 4156661 4156661 G A snp 141.03 1/1 12 4 0 4 1.0 intronic rs10767844 RRM1 AU NM_001033 exon18 c.40258+161G>A 0.845248 0.7599 Uncertain 11_4159466_G->A 11 4159466 4159466 G A snp 1560.77 1/1 99 55 0 55 1.0 exonic rs1042858 RRM1 AU synonymous SNV NM_001033 exon19 c.G2232A p.A744A 0.845647 0.7619 0.893291 0.8924 0.7412 Uncertain 11_4159764_A->T 11 4159764 4159764 A T snp 298.78 1/1 24 8 0 8 1.0 UTR3 rs1042919 RRM1 AU 0.845248 0.7599 Uncertain 11_4159771_T->- 11 4159771 4159771 T - indel 116.87 1/1 15 6 0 6 1.0 UTR3 rs866902 RRM1 AU 0.844848 0.7599 Uncertain 11_4185463_T->C 11 4185463 4185463 T C snp 1519.77 1/1 99 47 0 47 1.0 intergenic rs979941 RRM1 AU 0.454273 0.3075 Uncertain 11_4185595_T->G 11 4185595 4185595 T G snp 3093.77 1/1 99 116 0 116 1.0 intergenic rs979942 RRM1 AU 0.454473 0.3075 0.529340 0.5288 0.3038 Uncertain 11_4388527_A->T 11 4388527 4388527 A T snp 122.77 0/1 99 17 11 6 0.35 UTR3 rs61885767 OR52B4 AU 0.0253594 0.0992 Uncertain 11_4389587_G->C 11 4389587 4389587 G C snp 178.77 0/1 99 22 14 8 0.36 UTR5 rs7929171 OR52B4 AU 0.348842 0.2996 Uncertain 11_4406479_G->T 11 4406479 4406479 G T snp 98.77 0/1 99 13 8 5 0.38 UTR3 rs4144331 TRIM21 AU 0.160144 0.2054 0.113527 0.1309 0.2251 Uncertain 11_4406483_A->G 11 4406483 4406483 A G snp 188.77 0/1 99 15 5 10 0.67 UTR3 rs2269330 TRIM21 AU 0.132588 0.3403 0.034411 0.1025 0.3704 Uncertain 11_4407725_A->G 11 4407725 4407725 A G snp 44.77 0/1 31 3 1 2 0.67 intronic rs2269328 TRIM21 AU NM_003141 exon2 c.973+238A>G 0.211262 0.1379 Uncertain 11_4409511_A->G 11 4409511 4409511 A G snp 972.77 0/1 99 89 43 46 0.52 intronic rs12805578 TRIM21 AU NM_003141 exon4 c.3015-18A>G 0.784545 0.8631 0.787296 0.8025 0.8634 Uncertain 11_4409926_A->G 11 4409926 4409926 A G snp 44.77 0/1 33 3 1 2 0.67 intronic rs890420 TRIM21 AU NM_003141 exon4 c.3246+166A>G 0.489217 0.5764 Uncertain 11_4496613_C->A 11 4496613 4496613 C A snp 1218.77 0/1 99 105 59 46 0.44 intergenic rs9633905 OR52K2 AU 0.253794 0.371 Uncertain 11_4510285_A->G 11 4510285 4510285 A G snp 1848.77 0/1 99 170 93 77 0.45 exonic rs96489 OR52K1 AU nonsynonymous SNV NM_001005171 exon1 c.A155G p.Q52R 0.383986 0.3194 0.366518 0.3153 0.3275 0.9 T 0.0 P -0.970 T 0.0 T 0.0 T Pathogenic 11_4510587_C->T 11 4510587 4510587 C T snp 3397.77 0/1 99 250 118 132 0.53 exonic rs331510 OR52K1 AU nonsynonymous SNV NM_001005171 exon1 c.C457T p.R153W 0.220647 0.2282 0.196261 0.2259 0.2355 0.01 T 0.0 P -0.990 T 0.067 T 0.034 T Pathogenic 11_4510630_G->A 11 4510630 4510630 G A snp 3451.77 0/1 99 250 117 133 0.53 exonic rs529182149 OR52K1 AU nonsynonymous SNV NM_001005171 exon1 c.G500A p.R167H 0.000199681 0.001 0.0001 0.0018 0.02 T 1.000 N -0.996 T 0.013 T 0.01 T Pathogenic 11_4562831_A->G 11 4562831 4562831 A G snp 347.77 0/1 99 40 22 18 0.45 intergenic rs2657172 OR52K1 AU 0.346845 0.2302 Uncertain 11_4562947_G->T 11 4562947 4562947 G T snp 292.77 0/1 99 37 22 15 0.41 intergenic rs2641414 OR52K1 AU 0.349441 0.2302 0.3410 0.2502 Uncertain 11_4562970_-->TTT 11 4562970 4562970 - TTT indel 497.73 0/1 99 27 14 13 0.48 intergenic rs67163911 OR52K1 AU 0.2546 0.2227 Uncertain 11_4566377_C->T 11 4566377 4566377 C T snp 362.77 0/1 99 30 15 15 0.5 upstream rs2657168 OR52M1 AU 0.328874 0.2649 0.355747 0.3453 0.2909 Uncertain 11_4566711_C->T 11 4566711 4566711 C T snp 2189.77 0/1 99 177 91 86 0.49 exonic rs2709182 OR52M1 AU synonymous SNV NM_001004137 exon1 c.C291T p.D97D 0.4373 0.2639 0.513694 0.4594 0.2843 Uncertain 11_4567335_C->G 11 4567335 4567335 C G snp 1129.77 0/1 99 107 59 48 0.45 exonic rs2657167 OR52M1 AU nonsynonymous SNV NM_001004137 exon1 c.C915G p.S305R 0.425519 0.3046 0.444299 0.3922 0.3338 1 T 0.0 P -1.021 T 0.0 T 0.0 T Pathogenic 11_4592706_-->AC 11 4592706 4592706 - AC indel 3465.73 1/1 99 112 1 111 0.99 exonic rs141600462 C11orf40 AU frameshift insertion NM_144663 exon4 c.600_601insGT p.M201fs 0.574356 0.3598 0.3699 Pathogenic 11_4592708_-->AG 11 4592708 4592708 - AG indel 2628.73 1/1 99 113 0 113 1.0 exonic rs67037861 C11orf40 AU frameshift insertion NM_144663 exon4 c.598_599insCT p.C200fs 0.3128 0.4566 ID=COSM1475443;OCCURENCE=2(breast) Pathogenic 11_4593334_T->A 11 4593334 4593334 T A snp 160.77 0/1 99 12 4 8 0.67 intronic rs34520159 C11orf40 AU NM_144663 exon2 c.733-51T>A 0.339657 0.4683 0.351380 Uncertain 11_4594739_C->T 11 4594739 4594739 C T snp 473.77 1/1 36 15 0 15 1.0 intronic rs919519 C11orf40 AU NM_144663 exon3 c.2050+37C>T 0.848642 0.9603 0.9138 0.9545 Uncertain 11_4608542_C->T 11 4608542 4608542 C T snp 2802.77 0/1 99 250 145 105 0.42 exonic rs1847632 OR52I2 AU nonsynonymous SNV NM_001005170 exon1 c.C500T p.T167M 0.411542 0.5585 0.278966 0.3486 0.5983 0 D 0.016 P -0.906 T 1.0 D 0.961 D Pathogenic 11_4615234_A->G 11 4615234 4615234 A G snp 4063.77 0/1 99 250 112 138 0.55 upstream rs4910511 OR52I1 AU 0.265974 0.4405 0.244961 0.3225 0.4017 0.54 T 0.998 P -1.001 T Uncertain 11_4615390_C->T 11 4615390 4615390 C T snp 6142.77 1/1 99 235 0 235 1.0 exonic rs2010722 OR52I1 AU nonsynonymous SNV NM_001005169 exon1 c.C122T p.T41I 0.873602 0.999 0.836392 0.9409 0.9999 0.9 T 1.000 P -0.981 T 0.0 T 0.0 T Pathogenic 11_4615508_C->G 11 4615508 4615508 C G snp 2169.77 0/1 99 250 149 101 0.4 exonic rs2010719 OR52I1 AU synonymous SNV NM_001005169 exon1 c.C240G p.S80S 0.612021 0.5595 0.560720 0.6471 0.5953 Uncertain 11_4616412_T->G 11 4616412 4616412 T G snp 38.77 0/1 67 5 3 2 0.4 downstream rs10836328 OR52I1 AU 0.264377 0.4395 Uncertain 11_4621485_C->G 11 4621485 4621485 C G snp 140.03 1/1 12 6 0 6 1.0 UTR3 rs2231978 TRIM68 AU 0.852236 0.9633 0.835590 0.9202 0.9544 Uncertain 11_4622159_T->C 11 4622159 4622159 T C snp 2510.77 1/1 99 83 0 83 1.0 intronic rs2231972 TRIM68 AU NM_001304496 exon2 c.751-97T>C 0.865615 0.9633 Uncertain 11_4623106_T->C 11 4623106 4623106 T C snp 252.77 0/1 99 21 12 9 0.43 intronic rs999818 TRIM68 AU NM_001304496 exon3 c.1411+190T>C 0.459465 0.4375 Uncertain 11_4623279_A->G 11 4623279 4623279 A G snp 225.77 0/1 99 11 4 7 0.64 intronic rs2231970 TRIM68 AU NM_001304496 exon4 c.1876-102A>G 0.413139 0.4038 Uncertain 11_4623788_T->C 11 4623788 4623788 T C snp 43.77 0/1 72 7 4 3 0.43 intronic rs931811 TRIM68 AU NM_001304496 exon4 c.2137+146T>C 0.490815 0.5694 Uncertain 11_4624394_T->C 11 4624394 4624394 T C snp 666.77 0/1 99 56 29 27 0.48 intronic rs7943486 TRIM68 AU NM_001304496 exon5 c.2969-80T>C 0.412141 0.4018 Uncertain 11_4624432_C->A 11 4624432 4624432 C A snp 946.77 0/1 99 100 56 44 0.44 intronic rs17314159 TRIM68 AU NM_001304496 exon5 c.2969-42C>A 0.289736 0.4008 0.281043 0.3249 0.3565 Uncertain 11_4662087_T->C 11 4662087 4662087 T C snp 44.78 0/1 27 3 1 2 0.67 downstream rs4910656 OR51D1 AU 0.201677 0.1339 Uncertain 11_4703165_C->A 11 4703165 4703165 C A snp 1812.77 0/1 99 148 73 75 0.51 exonic rs1123991 OR51E2 AU synonymous SNV NM_030774 exon2 c.G777T p.V259V 0.751997 0.8214 0.747346 0.8203 0.7883 Uncertain 11_4703321_G->A 11 4703321 4703321 G A snp 2075.77 0/1 99 226 132 94 0.42 exonic rs1123990 OR51E2 AU synonymous SNV NM_030774 exon2 c.C621T p.G207G 0.0846645 0.1518 0.047315 0.0514 0.1846 Uncertain 11_4703420_C->T 11 4703420 4703420 C T snp 1125.77 0/1 99 124 73 51 0.41 exonic rs7939559 OR51E2 AU synonymous SNV NM_030774 exon2 c.G522A p.S174S 0.0842652 0.1498 0.047084 0.0514 0.1845 Uncertain 11_4703654_A->G 11 4703654 4703654 A G snp 1187.77 0/1 99 135 79 56 0.41 exonic rs12575331 OR51E2 AU synonymous SNV NM_030774 exon2 c.T288C p.C96C 0.0842652 0.1498 0.047084 0.0513 0.1846 Uncertain 11_4703762_G->T 11 4703762 4703762 G T snp 1837.77 0/1 99 170 93 77 0.45 exonic rs12576387 OR51E2 AU synonymous SNV NM_030774 exon2 c.C180A p.L60L 0.0842652 0.1498 0.047084 0.0513 0.1847 Uncertain 11_4711860_A->G 11 4711860 4711860 A G snp 37.77 0/1 66 7 5 2 0.29 intronic rs1847631 OR51E2 AU NM_030774 exon2 c.15904-7022A>G 0.166933 0.3333 Uncertain 11_4712079_A->G 11 4712079 4712079 A G snp 1317.77 0/1 99 99 49 50 0.51 intronic rs1505192 OR51E2 AU NM_030774 exon2 c.15904-6803A>G 0.162939 0.3333 0.1926 0.3660 0.06 T 0.400 P -0.561 T Uncertain 11_4729650_G->A 11 4729650 4729650 G A snp 775.77 0/1 99 63 27 36 0.57 intergenic rs7122597 OR51E2 AU 0.382788 0.3294 Uncertain 11_4729681_C->T 11 4729681 4729681 C T snp 962.77 0/1 99 80 37 43 0.54 intergenic rs7123544 OR51E2 AU 0.306909 0.2907 Uncertain 11_4729684_T->C 11 4729684 4729684 T C snp 958.77 0/1 99 78 36 42 0.54 intergenic rs7112068 OR51E2 AU 0.333466 0.2907 Uncertain 11_4729746_A->C 11 4729746 4729746 A C snp 904.77 0/1 99 71 32 39 0.55 intergenic rs7108910 OR51E2 AU 0.310503 0.2907 Uncertain 11_4729814_T->A 11 4729814 4729814 T A snp 573.77 0/1 99 40 19 21 0.53 intergenic rs7112203 OR51E2 AU 0.309704 0.2907 Uncertain 11_4729827_A->T 11 4729827 4729827 A T snp 436.77 0/1 99 32 16 16 0.5 intergenic rs79412611 OR51E2 AU 0.0678914 0.2619 Uncertain 11_4730985_C->T 11 4730985 4730985 C T snp 3031.77 0/1 99 250 135 115 0.46 intergenic rs4619142 OR51E2 AU 0.931909 0.7361 0.9795 0.7964 1 T 1.000 P -0.916 T Uncertain 11_4731180_G->A 11 4731180 4731180 G A snp 3096.77 0/1 99 249 131 118 0.47 intergenic rs4432013 OR51E2 AU 0.846645 0.7361 0.8595 0.7409 1 T 1.0 P -0.944 T Uncertain 11_4731468_G->A 11 4731468 4731468 G A snp 1901.77 0/1 99 136 60 76 0.56 intergenic rs4436535 OR51E2 AU 0.757987 0.7073 0.7992 0.7150 0.37 T 1.0 P -1.008 T Uncertain 11_4731583_C->T 11 4731583 4731583 C T snp 3248.77 0/1 99 242 109 133 0.55 intergenic rs4471413 OR51E2 AU 0.846446 0.7361 0.8585 0.7477 0.83 T 0.003 P -0.977 T Uncertain 11_4928621_G->A 11 4928621 4928621 G A snp 817.77 0/1 99 60 29 31 0.52 exonic rs11034596 OR51A7 AU nonsynonymous SNV NM_001004749 exon1 c.G22A p.E8K 0.179912 0.5427 0.078166 0.1304 0.5534 0.62 T 0.0 P -0.948 T 0.023 T 0.014 T Pathogenic 11_4929061_C->G 11 4929061 4929061 C G snp 2783.77 0/1 99 227 120 107 0.47 exonic rs10500627 OR51A7 AU synonymous SNV NM_001004749 exon1 c.C462G p.L154L 0.177915 0.5437 0.077243 0.1299 0.5553 Uncertain 11_4935775_C->- 11 4935775 4935775 C - indel 171.73 0/1 99 20 12 8 0.4 downstream rs11318208 OR51G2 AU Uncertain 11_4945196_T->G 11 4945196 4945196 T G snp 1362.77 0/1 99 103 48 55 0.53 exonic rs1378739 OR51G1 AU nonsynonymous SNV NM_001005237 exon1 c.A374C p.Y125S 0.657348 0.7222 0.620326 0.5993 0.6776 0 D 0.796 P -0.966 T 0.761 T 0.247 P Pathogenic 11_4945229_G->A 11 4945229 4945229 G A snp 1320.77 0/1 99 120 62 58 0.48 exonic rs10836954 OR51G1 AU nonsynonymous SNV NM_001005237 exon1 c.C341T p.S114L 0.0722843 0.2202 0.040237 0.0639 0.2392 0 D 0.0 P -1.097 T 1.0 D 0.999 D Pathogenic 11_4945631_G->A 11 4945631 4945631 G A snp 413.77 0/1 99 34 18 16 0.47 upstream rs10836955 OR51G1 AU 0.123403 0.2173 Uncertain 11_4964627_C->A 11 4964627 4964627 C A snp 819.77 1/1 60 25 0 25 1.0 intergenic rs2595993 OR51G1 AU 0.447684 0.5536 Uncertain 11_4964649_G->T 11 4964649 4964649 G T snp 1161.77 1/1 84 38 0 38 1.0 intergenic rs2595992 OR51G1 AU 0.84984 0.9107 Uncertain 11_4964753_A->G 11 4964753 4964753 A G snp 2675.77 1/1 99 100 0 100 1.0 intergenic rs2605301 OR51G1 AU 0.85024 0.9107 0.8277 0.9031 Uncertain 11_4964784_A->T 11 4964784 4964784 A T snp 2768.77 1/1 99 101 0 101 1.0 intergenic rs2605302 OR51G1 AU 0.85024 0.9107 Uncertain 11_4965239_G->T 11 4965239 4965239 G T snp 1934.77 1/1 99 71 0 71 1.0 intergenic rs2570581 OR51G1 AU 0.84984 0.9107 Uncertain 11_4965301_G->T 11 4965301 4965301 G T snp 1779.77 1/1 99 64 0 64 1.0 intergenic rs2605303 OR51G1 AU 0.988818 1 0.9986 1 Uncertain 11_4967285_A->G 11 4967285 4967285 A G snp 61.77 0/1 90 8 5 3 0.38 downstream rs112414455 OR51A4 AU Uncertain 11_4967294_A->C 11 4967294 4967294 A C snp 171.77 0/1 99 17 11 6 0.35 downstream rs112613643 OR51A4 AU Uncertain 11_4967468_G->A 11 4967468 4967468 G A snp 8366.77 1/1 99 250 0 250 1.0 exonic rs28698374 OR51A4 AU nonsynonymous SNV NM_001005329 exon1 c.C863T p.T288M 0.848842 0.9107 0.833410 0.8493 0.9012 0.71 T 0.000 P -0.996 T 0.005 T 0.003 T Pathogenic 11_4968198_C->A 11 4968198 4968198 C A snp 6170.77 1/1 99 238 1 237 1.0 exonic rs3845246 OR51A4 AU nonsynonymous SNV NM_001005329 exon1 c.G133T p.G45C 0.859026 0.9107 0.842778 0.8524 0.9009 1 T 0.000 P -1.038 T 0.0 T 0.0 T Pathogenic 11_4976013_A->G 11 4976013 4976013 A G snp 39.74 1/1 6 4 0 4 1.0 exonic rs55827480 OR51A2 AU nonsynonymous SNV NM_001004748 exon1 c.T931C p.W311R 0.191698 0.0438 0.0627 0.18 T 0.0 P -0.943 T 0.0 T 0.0 T Pathogenic 11_4976077_T->G 11 4976077 4976077 T G snp 39.74 1/1 6 7 0 7 1.0 exonic rs2570573 OR51A2 AU nonsynonymous SNV NM_001004748 exon1 c.A867C p.K289N 0.185056 0.1047 0.1342 1 T 0.000 P -0.961 T 0.0 T 0.0 T Pathogenic 11_4976145_C->G 11 4976145 4976145 C G snp 1350.77 1/1 99 55 0 55 1.0 exonic rs56066301 OR51A2 AU nonsynonymous SNV NM_001004748 exon1 c.G799C p.G267R 0.303115 0.369 0.1354 0.1654 0.22 T 0.0 P -1.031 T 0.0 T 0.0 T Pathogenic 11_4976291_G->A 11 4976291 4976291 G A snp 3909.77 1/1 99 167 5 162 0.97 exonic rs55889636 OR51A2 AU nonsynonymous SNV NM_001004748 exon1 c.C653T p.S218F 0.375 0.379 0.430928 0.4043 0.3718 0 D 0.594 P -0.946 T 1.0 D 1.0 D Pathogenic 11_4976444_C->T 11 4976444 4976444 C T snp 228.78 1/1 24 12 0 12 1.0 exonic rs117546301 OR51A2 AU nonsynonymous SNV NM_001004748 exon1 c.G500A p.S167N 0.0318 0.0485 0.01 T 0.0 P -1.059 T 0.002 T 0.008 T Pathogenic 11_4976768_C->T 11 4976768 4976768 C T snp 347.78 1/1 27 9 0 9 1.0 exonic rs112749434 OR51A2 AU nonsynonymous SNV NM_001004748 exon1 c.G176A p.G59E 0.357322 0.3333 0.1746 1 T 0.000 P -0.976 T 0.0 T 0.0 T Pathogenic 11_4976811_C->A 11 4976811 4976811 C A snp 860.77 1/1 66 34 0 34 1.0 exonic rs28482315 OR51A2 AU nonsynonymous SNV NM_001004748 exon1 c.G133T p.G45C 0.838458 0.8948 0.8372 0.8942 1 T 0.0 P -0.990 T 0.0 T 0.0 T Pathogenic 11_5010905_A->G 11 5010905 5010905 A G snp 2711.77 0/1 99 238 117 121 0.51 exonic rs2499953 MMP26 AU nonsynonymous SNV NM_021801 exon2 c.A127G p.K43E 0.166733 0.2788 0.097477 0.0891 0.2992 0.95 T 0.0 P -0.983 T 0.061 T 0.024 T Pathogenic 11_5013421_-->T 11 5013421 5013421 - T indel 1117.73 1/1 99 55 0 55 1.0 intronic rs397786893 MMP26 AU NM_021801 exon6 c.4002-22insT 0.657548 0.756 0.5843 0.6809 Uncertain 11_5013432_C->T 11 5013432 5013432 C T snp 55.77 0/1 84 46 40 6 0.13 intronic rs202159009 MMP26 AU NM_021801 exon6 c.4002-11C>T 2.919e-05 0 Uncertain 11_5020416_A->G 11 5020416 5020416 A G snp 3641.77 1/1 99 121 0 121 1.0 exonic rs2445290 OR51L1 AU synonymous SNV NM_001004755 exon1 c.A204G p.L68L 0.826278 0.6696 0.852670 0.8348 0.6893 Uncertain 11_5067984_A->G 11 5067984 5067984 A G snp 1246.77 0/1 99 101 47 54 0.53 exonic rs2500016 OR52J3 AU nonsynonymous SNV NM_001001916 exon1 c.A229G p.T77A 0.48762 0.2619 0.519080 0.4938 0.2755 0 D 0.0 P -1.015 T 0.894 T 0.606 P Pathogenic 11_5068137_G->A 11 5068137 5068137 G A snp 2665.77 0/1 99 208 100 108 0.52 exonic rs2500017 OR52J3 AU nonsynonymous SNV NM_001001916 exon1 c.G382A p.V128I 0.48762 0.2619 0.519080 0.4939 0.2755 1 T 0.000 P -0.920 T 0.0 T 0.001 T Pathogenic 11_5068177_A->T 11 5068177 5068177 A T snp 3138.77 0/1 99 231 108 123 0.53 exonic rs2500018 OR52J3 AU nonsynonymous SNV NM_001001916 exon1 c.A422T p.Q141L 0.48762 0.2619 0.519157 0.4940 0.2748 0.11 T 0.0 P -0.938 T 0.0 T 0.002 T Pathogenic 11_5068297_G->A 11 5068297 5068297 G A snp 3394.77 0/1 99 248 120 128 0.52 exonic rs58664826 OR52J3 AU nonsynonymous SNV NM_001001916 exon1 c.G542A p.C181Y 0.100639 0.0863 0.094091 0.1303 0.1062 0 D 1.000 P -1.067 T 1.0 D 1.0 D Pathogenic 11_5068431_G->A 11 5068431 5068431 G A snp 2993.77 0/1 99 207 87 120 0.58 exonic rs17350764 OR52J3 AU nonsynonymous SNV NM_001001916 exon1 c.G676A p.V226I 0.222444 0.1081 0.206493 0.2112 0.1194 0.02 T 0.0 P -0.859 T 0.981 D 0.883 D Pathogenic 11_5068661_A->G 11 5068661 5068661 A G snp 1296.77 0/1 99 146 88 58 0.4 exonic rs2500019 OR52J3 AU synonymous SNV NM_001001916 exon1 c.A906G p.E302E 0.488019 0.2619 0.512233 0.4963 0.2748 Uncertain 11_5068662_C->T 11 5068662 5068662 C T snp 1262.77 0/1 99 145 86 59 0.41 exonic rs57026471 OR52J3 AU stopgain NM_001001916 exon1 c.C907T p.R303X 0.113219 0.0863 0.082705 0.1377 0.1062 1 T 0.016 P Pathogenic 11_5079946_C->T 11 5079946 5079946 C T snp 1377.77 0/1 99 130 66 64 0.49 exonic rs2445332 OR52E2 AU synonymous SNV NM_001005164 exon1 c.G912A p.V304V 0.901158 0.7708 0.938606 0.9361 0.7844 Uncertain 11_5080068_G->A 11 5080068 5080068 G A snp 889.77 0/1 99 83 51 32 0.39 exonic rs2500052 OR52E2 AU nonsynonymous SNV NM_001005164 exon1 c.C790T p.R264C 0.510583 0.2619 0.541776 0.4999 0.2748 0 D 0.867 P -0.908 T 0.966 D 0.668 D Pathogenic 11_5080337_T->C 11 5080337 5080337 T C snp 1797.77 0/1 99 137 70 67 0.49 exonic rs61746343 OR52E2 AU nonsynonymous SNV NM_001005164 exon1 c.A521G p.H174R 0.209265 0.0873 0.225650 0.2176 0.1062 0.7 T 0.000 P -1.181 T 0.002 T 0.013 T Pathogenic 11_5172786_A->G 11 5172786 5172786 A G snp 3973.77 1/1 99 140 0 140 1.0 exonic rs10768611 OR52A1 AU nonsynonymous SNV NM_012375 exon1 c.T814C p.S272P 0.967652 1 0.967841 0.9912 0.9999 1 T 0.0 P -0.951 T 0.0 T 0.0 T Pathogenic 11_5199208_T->C 11 5199208 5199208 T C snp 218.84 1/1 18 6 0 6 1.0 intergenic rs7927539 OR52A1 AU 0.717252 0.9167 Uncertain 11_5199222_A->C 11 5199222 5199222 A C snp 383.77 1/1 30 10 0 10 1.0 intergenic rs7924390 OR52A1 AU 0.718051 0.9167 Uncertain 11_5199340_-->ATGCCC 11 5199340 5199340 - ATGCCC indel 8812.73 1/1 99 101 0 101 1.0 intergenic rs113029548 OR52A1 AU 0.717053 0.9167 0.7451 0.9508 Uncertain 11_5199645_T->C 11 5199645 5199645 T C snp 4507.77 1/1 99 158 0 158 1.0 intergenic rs6578560 OR52A1 AU 0.903554 0.9435 0.9308 0.9702 Uncertain 11_5199660_T->C 11 5199660 5199660 T C snp 3755.77 1/1 99 130 0 130 1.0 intergenic rs6578561 OR52A1 AU 0.910144 0.9444 0.9394 0.9715 Uncertain 11_5199675_C->T 11 5199675 5199675 C T snp 3217.75 1/1 99 106 0 106 1.0 intergenic rs6578562 OR52A1 AU 0.73143 0.9147 0.7109 0.9625 Uncertain 11_5199708_T->A 11 5199708 5199708 T A snp 2064.77 1/1 99 68 0 68 1.0 intergenic rs6578563 OR52A1 AU 0.723442 0.9196 0.7440 0.9629 Uncertain 11_5199818_C->- 11 5199818 5199818 C - indel 429.73 1/1 33 11 0 11 1.0 intergenic rs5789371 OR52A1 AU 0.71266 0.9058 0.6560 0.9688 Uncertain 11_5221645_C->A 11 5221645 5221645 C A snp 2699.77 0/1 99 250 139 111 0.44 exonic rs11512276 OR51V1 AU nonsynonymous SNV NM_001004760 exon1 c.G286T p.G96W 0.320887 0.1677 0.598400 0.4047 0.1925 0 D 0.002 P -1.055 T 1.0 D 0.999 D Pathogenic 11_5221825_G->A 11 5221825 5221825 G A snp 1507.77 0/1 99 108 47 61 0.56 exonic rs11036212 OR51V1 AU nonsynonymous SNV NM_001004760 exon1 c.C106T p.L36F 0.596645 0.4921 0.730035 0.7220 0.4922 0.05 T 0.0 P -0.968 T 0.001 T 0.005 T Pathogenic 11_5247141_G->A 11 5247141 5247141 G A snp 116.77 0/1 99 8 4 4 0.5 intronic rs1609812 HBB AU,AD,AR NM_000518 exon1 c.129+185G>A 0.713858 0.5079 CLINSIG=non-pathogenic;CLNDBN=beta_Thalassemia;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000029983.1;CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT;CLNDSDBID=NBK1426:C0005283:613985:ORPHA848:65959000 Uncertain 11_5247733_A->C 11 5247733 5247733 A C snp 556.77 0/1 99 49 25 24 0.49 intronic rs7480526 HBB AU,AD,AR NM_000518 exon2 c.979-73A>C 0.36901 0.1756 Uncertain 11_5247791_C->G 11 5247791 5247791 C G snp 879.77 0/1 99 101 58 43 0.43 intronic rs10768683 HBB AU,AD,AR NM_000518 exon2 c.979-15C>G 0.720048 0.5099 0.850900 0.7699 0.5005 Uncertain 11_5248243_A->G 11 5248243 5248243 A G snp 1087.77 0/1 99 88 50 38 0.43 exonic rs713040 HBB AU,AD,AR synonymous SNV NM_000518 exon1 c.T9C p.H3H 0.714257 0.504 0.848669 0.7671 0.4963 CLINSIG=other;CLNDBN=HEMOGLOBIN_OKAYAMA;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000016529.1;CLNDSDB=.;CLNDSDBID=. Uncertain 11_5263577_C->G 11 5263577 5263577 C G snp 548.77 1/1 42 16 0 16 1.0 ncRNA_intronic rs10128555 HBBP1 AU 0.887181 0.8929 Uncertain 11_5264146_T->G 11 5264146 5264146 T G snp 56.74 1/1 6 2 0 2 1.0 ncRNA_intronic rs2071348 HBBP1 AU 0.20627 0.13 Uncertain 11_5269583_G->A 11 5269583 5269583 G A snp 5097.77 1/1 99 186 4 182 0.98 UTR3 rs5009539 HBG1 AD 0.477436 0.4732 0.0002 0 Uncertain 11_5269584_T->G 11 5269584 5269584 T G snp 5122.77 1/1 99 185 2 183 0.99 UTR3 rs1065686 HBG1 AD 0.71845 0.7996 0 0 Uncertain 11_5269585_G->A 11 5269585 5269585 G A snp 5193.77 1/1 99 184 1 183 0.99 UTR3 rs61893083 HBG1 AD 0.71845 0.7996 0 0 0 D 1 N -0.974 T Uncertain 11_5269586_A->G 11 5269586 5269586 A G snp 5232.77 1/1 99 185 1 184 0.99 UTR3 rs62755960 HBG1 AD 0.71845 0.7996 8.416e-06 0 0 D 1 N -0.959 T Uncertain 11_5269799_A->C 11 5269799 5269799 A C snp 439.77 1/1 42 34 6 28 0.82 intronic rs28440105 HBG1 AD NM_000559 exon1 c.129+82A>C 0.842652 0.8879 Uncertain 11_5269806_C->T 11 5269806 5269806 C T snp 205.77 0/1 99 32 20 12 0.38 intronic rs28379094 HBG1 AD NM_000559 exon1 c.129+89C>T 0.475839 0.747 Uncertain 11_5270539_C->A 11 5270539 5270539 C A snp 217.8 1/1 21 24 0 24 1.0 intronic rs33988501 HBG1 AD NM_000559 exon2 c.1009-58C>A Uncertain 11_5270686_G->A 11 5270686 5270686 G A snp 40.74 1/1 6 12 0 12 1.0 exonic rs1061234 HBG1 AD nonsynonymous SNV NM_000559 exon2 c.C227T p.T76I 0.0820 0.0841 0.63 T 0.0 P -0.664 T 0.0 T 0.0 T CLINSIG=non-pathogenic|other|other|other;CLNDBN=HBG1_POLYMORPHISM|HEMOGLOBIN_F_(CHARLOTTE)|HEMOGLOBIN_F_(PORTO_TORRES)|HEMOGLOBIN_F_(SARDINIA);CLNREVSTAT=no_assertion_criteria_provided|no_assertion_criteria_provided|no_assertion_criteria_provided|no_assertion_criteria_provided;CLNACC=RCV000016145.1|RCV000016180.1|RCV000016185.1|RCV000030904.1;CLNDSDB=.|.|.|.;CLNDSDBID=.|.|.|. Pathogenic 11_5274452_-->T 11 5274452 5274452 - T indel 1858.73 0/1 99 110 61 49 0.45 UTR3 rs34879481 HBG2 AD 0.241214 0.129 0.2449 0.1094 Uncertain 11_5274717_A->C 11 5274717 5274717 A C snp 155.77 0/1 99 18 7 11 0.61 intronic rs2070972 HBG2 AD NM_000184 exon1 c.129+82A>C 0.52516 0.7679 Uncertain 11_5275407_T->C 11 5275407 5275407 T C snp 37.77 0/1 66 6 4 2 0.33 intronic rs2070973 HBG2 AD NM_000184 exon2 c.1015-114T>C 0.496805 0.7629 Uncertain 11_5275498_T->G 11 5275498 5275498 T G snp 151.77 0/1 99 188 150 38 0.2 intronic rs33993529 HBG2 AD NM_000184 exon2 c.1015-23T>G 0.0074 0.0109 Uncertain 11_5275802_G->A 11 5275802 5275802 G A snp 88.77 0/1 99 250 136 114 0.46 intronic rs141669845 HBG2 AD NM_000184 exon2 c.1238+58G>A 0.492812 0.7639 Uncertain 11_5289896_-->AAAC 11 5289896 5289896 - AAAC indel 2596.73 1/1 99 74 0 74 1.0 intronic rs3061750 HBE1 AU NM_005330 exon1 c.129+69insAAAC 0.861621 0.8938 Uncertain 11_5322737_A->G 11 5322737 5322737 A G snp 6615.77 1/1 99 240 0 240 1.0 exonic rs10837771 OR51B4 AU nonsynonymous SNV NM_033179 exon1 c.T440C p.M147T 0.442292 0.747 0.344337 0.4562 0.7525 0.4 T 0.0 P -0.954 T 0.016 T 0.015 T Pathogenic 11_5323071_C->T 11 5323071 5323071 C T snp 3943.77 1/1 99 137 0 137 1.0 exonic rs7118113 OR51B4 AU nonsynonymous SNV NM_033179 exon1 c.G106A p.V36I 0.680511 0.878 0.621884 0.7138 0.8790 0.23 T 0.0 P -0.898 T 0.004 T 0.004 T Pathogenic 11_5344499_C->T 11 5344499 5344499 C T snp 128.03 1/1 12 4 0 4 1.0 downstream rs7934005 OR51B2 AU 0.755192 0.5407 Uncertain 11_5344552_C->T 11 5344552 5344552 C T snp 668.77 1/1 51 19 0 19 1.0 UTR3 rs7934105 OR51B2 AU 0.755192 0.5407 0.875967 0.8405 0.5209 Uncertain 11_5344561_G->A 11 5344561 5344561 G A snp 892.77 1/1 66 26 0 26 1.0 UTR3 rs7933257 OR51B2 AU 0.754593 0.5407 0.875944 0.8412 0.5195 Uncertain 11_5344592_A->C 11 5344592 5344592 A C snp 772.77 0/1 99 60 32 28 0.47 exonic rs11036814 OR51B2 AU nonsynonymous SNV NM_033180 exon1 c.T936G p.S312R 0.0980431 0.123 0.117805 0.1425 0.1371 0 D 0.0 P -1.097 T 0.004 T 0.003 T Pathogenic 11_5344772_T->C 11 5344772 5344772 T C snp 6192.77 1/1 99 225 0 225 1.0 exonic rs10742622 OR51B2 AU synonymous SNV NM_033180 exon1 c.A756G p.T252T 0.754992 0.5407 0.877193 0.8412 0.5197 Uncertain 11_5344847_A->G 11 5344847 5344847 A G snp 4716.77 1/1 99 160 0 160 1.0 exonic rs10768793 OR51B2 AU synonymous SNV NM_033180 exon1 c.T681C p.A227A 0.755192 0.5407 0.877193 0.8412 0.5194 Uncertain 11_5344902_C->G 11 5344902 5344902 C G snp 4226.77 1/1 99 132 0 132 1.0 exonic rs7937237 OR51B2 AU nonsynonymous SNV NM_033180 exon1 c.G626C p.C209S 0.755192 0.5407 0.877193 0.8412 0.5192 1 T 0.0 P -1.003 T 0.0 T 0.0 T Pathogenic 11_5345128_G->A 11 5345128 5345128 G A snp 6370.77 1/1 99 224 0 224 1.0 exonic rs10837814 OR51B2 AU nonsynonymous SNV NM_033180 exon1 c.C400T p.L134F 0.44349 0.3224 0.529932 0.5445 0.3051 0.01 T 0.372 P -0.937 T 0.991 D 0.918 D Pathogenic 11_5345170_A->G 11 5345170 5345170 A G snp 5928.77 1/1 99 207 0 207 1.0 exonic rs7952293 OR51B2 AU nonsynonymous SNV NM_033180 exon1 c.T358C p.C120R 0.75599 0.5407 0.877655 0.8414 0.5199 1 T 0.146 P -1.038 T 0.0 T 0.0 T Pathogenic 11_5345486_G->A 11 5345486 5345486 G A snp 1842.77 1/1 99 74 0 74 1.0 exonic rs4910750 OR51B2 AU synonymous SNV NM_033180 exon1 c.C42T p.G14G 0.755591 0.5397 0.877655 0.8414 0.5191 Uncertain 11_5364742_C->T 11 5364742 5364742 C T snp 253.77 0/1 99 26 15 11 0.42 exonic rs11036913 OR51B5 AU nonsynonymous SNV NM_001005567 exon5 c.G13A p.G5S 0.297724 0.2391 0.348109 0.4003 0.2494 1 T 0.0 P -0.996 T 0.001 T 0.001 T Pathogenic 11_5364776_-->GTC 11 5364776 5364776 - GTC indel 259.73 0/1 99 14 6 8 0.57 UTR5 rs397830523 OR51B5 AU 0.297324 0.246 0.338641 0.3916 0.2564 Uncertain 11_5372863_T->A 11 5372863 5372863 T A snp 3289.77 0/1 99 242 105 137 0.57 exonic rs10837882 OR51B6 AU synonymous SNV NM_001004750 exon1 c.T126A p.T42T 0.14976 0.2351 0.115574 0.1459 0.2586 Uncertain 11_5373114_G->A 11 5373114 5373114 G A snp 1982.77 0/1 99 167 89 78 0.47 exonic rs5006888 OR51B6 AU nonsynonymous SNV NM_001004750 exon1 c.G377A p.S126N 0.60643 0.5446 0.587104 0.6025 0.5250 1 T 0.0 P -1.049 T 0.0 T 0.001 T Pathogenic 11_5373646_T->C 11 5373646 5373646 T C snp 2827.77 0/1 99 244 130 114 0.47 exonic rs5024041 OR51B6 AU synonymous SNV NM_001004750 exon1 c.T909C p.R303R 0.603634 0.5466 0.590685 0.6038 0.5294 Uncertain 11_5410934_T->G 11 5410934 5410934 T G snp 2727.77 0/1 99 203 97 106 0.52 exonic rs1498467 OR51M1 AU nonsynonymous SNV NM_001004756 exon1 c.T306G p.H102Q 0.698083 0.5476 0.797542 0.7685 0.5122 0.16 T 0.0 P -1.026 T Pathogenic 11_5411031_C->T 11 5411031 5411031 C T snp 2326.77 0/1 99 177 84 93 0.53 exonic rs1498468 OR51M1 AU nonsynonymous SNV NM_001004756 exon1 c.C403T p.L135F 0.698682 0.5486 0.798794 0.7684 0.5119 1 T 0.000 P -0.963 T Pathogenic 11_5411239_T->C 11 5411239 5411239 T C snp 1377.77 0/1 99 154 96 58 0.38 exonic rs1498469 OR51M1 AU nonsynonymous SNV NM_001004756 exon1 c.T611C p.I204T 0.714457 0.5476 0.813806 0.7729 0.5119 1 T 0.0 P -1.027 T Pathogenic 11_5411395_C->A 11 5411395 5411395 C A snp 2109.77 0/1 99 170 83 87 0.51 exonic rs9783355 OR51M1 AU nonsynonymous SNV NM_001004756 exon1 c.C767A p.P256H 0.71226 0.5387 0.812610 0.7724 0.5052 1 T 0.086 P -1.077 T Pathogenic 11_5411398_T->G 11 5411398 5411398 T G snp 2060.77 0/1 99 168 82 86 0.51 exonic rs2736531 OR51M1 AU nonsynonymous SNV NM_001004756 exon1 c.T770G p.L257R 0.360423 0.3145 0.358706 0.3688 0.3151 0 D 0.939 P -1.025 T 0.922 T 0.866 D Pathogenic 11_5411579_G->A 11 5411579 5411579 G A snp 1156.77 0/1 99 112 64 48 0.43 exonic rs10768906 OR51M1 AU synonymous SNV NM_001004756 exon1 c.G951A p.K317K 0.714457 0.5476 0.810403 0.7775 0.5324 Uncertain 11_5411580_T->C 11 5411580 5411580 T C snp 1233.77 0/1 99 109 62 47 0.43 exonic rs10768907 OR51M1 AU nonsynonymous SNV NM_001004756 exon1 c.T952C p.F318L 0.714457 0.5476 0.811014 0.7789 0.5369 1 T 0.0 P -0.978 T Pathogenic 11_5423775_G->A 11 5423775 5423775 G A snp 554.77 0/1 99 46 26 20 0.43 intronic rs7481498 OR51B5 AU NM_001005567 exon4 c.4325+55635G>A 0.544329 0.4673 Uncertain 11_5423779_G->A 11 5423779 5423779 G A snp 642.77 0/1 99 50 26 24 0.48 intronic rs2736527 OR51B5 AU NM_001005567 exon4 c.4325+55639G>A 0.372804 0.3194 0.3919 0.3164 Uncertain 11_5424050_G->A 11 5424050 5424050 G A snp 3026.77 0/1 99 250 133 117 0.47 intronic rs1909262 OR51B5 AU NM_001005567 exon4 c.4325+55910G>A 0.350839 0.3194 0.4069 0.3211 0 D 0.0 P -0.938 T Uncertain 11_5424701_T->C 11 5424701 5424701 T C snp 3110.77 0/1 99 250 123 127 0.51 intronic rs16930511 OR51B5 AU NM_001005567 exon4 c.4325+56561T>C 0.0766773 0.1766 0.0875 0.1700 0 D 0.316 P -1.124 T Uncertain 11_5424838_T->A 11 5424838 5424838 T A snp 739.77 0/1 99 66 37 29 0.44 intronic rs2736525 OR51B5 AU NM_001005567 exon4 c.4325+56698T>A 0.366214 0.3194 Uncertain 11_5443442_G->C 11 5443442 5443442 G C snp 4994.77 1/1 99 182 0 182 1.0 exonic rs2736590 OR51Q1 AU synonymous SNV NM_001004757 exon1 c.G12C p.V4V 0.475639 0.7024 0.381964 0.4358 0.7283 Uncertain 11_5443700_C->T 11 5443700 5443700 C T snp 6656.77 1/1 99 219 0 219 1.0 exonic rs2736588 OR51Q1 AU synonymous SNV NM_001004757 exon1 c.C270T p.N90N 0.453674 0.7024 0.362034 0.4257 0.7265 Uncertain 11_5443739_T->C 11 5443739 5443739 T C snp 5579.77 1/1 99 191 0 191 1.0 exonic rs2736587 OR51Q1 AU synonymous SNV NM_001004757 exon1 c.T309C p.F103F 0.453674 0.7024 0.362034 0.4255 0.7265 Uncertain 11_5443867_C->T 11 5443867 5443867 C T snp 5568.77 1/1 99 197 0 197 1.0 exonic rs10838092 OR51Q1 AU nonsynonymous SNV NM_001004757 exon1 c.C437T p.T146I 0.453674 0.7024 0.361650 0.4252 0.7255 1 T 0.0 P -0.933 T 0.0 T 0.0 T Pathogenic 11_5443887_T->C 11 5443887 5443887 T C snp 5606.77 1/1 99 199 0 199 1.0 exonic rs10838093 OR51Q1 AU nonsynonymous SNV NM_001004757 exon1 c.T457C p.C153R 0.453674 0.7024 0.360572 0.4251 0.7247 1 T 0.000 P -0.933 T 0.0 T 0.0 T Pathogenic 11_5443893_G->A 11 5443893 5443893 G A snp 5418.77 1/1 99 201 0 201 1.0 exonic rs10838094 OR51Q1 AU nonsynonymous SNV NM_001004757 exon1 c.G463A p.V155I 0.453674 0.7024 0.360880 0.4251 0.7247 0.4 T 0.0 P -0.989 T 0.039 T 0.039 T Pathogenic 11_5443963_G->A 11 5443963 5443963 G A snp 4521.77 1/1 99 177 0 177 1.0 exonic rs10838095 OR51Q1 AU nonsynonymous SNV NM_001004757 exon1 c.G533A p.R178H 0.453474 0.7024 0.361881 0.4250 0.7257 1 T 0.000 P -0.989 T 0.0 T 0.0 T Pathogenic 11_5443969_A->C 11 5443969 5443969 A C snp 1956.77 0/1 99 171 86 85 0.5 exonic rs58283839 OR51Q1 AU nonsynonymous SNV NM_001004757 exon1 c.A539C p.Y180S 0.132987 0.3859 0.018313 0.0712 0.4109 0 D 0.995 P -0.958 T 1.0 D 0.999 D Pathogenic 11_5444061_G->A 11 5444061 5444061 G A snp 4674.77 1/1 99 162 0 162 1.0 exonic rs2736586 OR51Q1 AU nonsynonymous SNV NM_001004757 exon1 c.G631A p.V211M 0.453674 0.7024 0.362034 0.4254 0.7257 0.22 T 0.0 P -0.948 T 0.002 T 0.003 T Pathogenic 11_5444136_C->T 11 5444136 5444136 C T snp 5122.77 1/1 99 180 0 180 1.0 exonic rs2647574 OR51Q1 AU stopgain NM_001004757 exon1 c.C706T p.R236X 0.453874 0.7024 0.361958 0.4253 0.7263 1 T 1.000 P Pathogenic 11_5444353_T->C 11 5444353 5444353 T C snp 2323.77 1/1 99 83 0 83 1.0 exonic rs2647573 OR51Q1 AU nonsynonymous SNV NM_001004757 exon1 c.T923C p.F308S 0.453674 0.7024 0.359803 0.4361 0.7297 0.04 T 0.0 P -0.988 T 0.094 T 0.031 T Pathogenic 11_5451197_G->A 11 5451197 5451197 G A snp 56.74 1/1 6 2 0 2 1.0 intronic rs1353735 OR51B5 AU NM_001005567 exon5 c.162983-75601G>A 0.215855 0.4077 Uncertain 11_5451761_G->A 11 5451761 5451761 G A snp 102.77 0/1 99 11 7 4 0.36 intronic rs2340653 OR51B5 AU NM_001005567 exon5 c.162983-75037G>A 0.744808 0.7272 Uncertain 11_5452418_G->A 11 5452418 5452418 G A snp 107.77 0/1 99 13 8 5 0.38 intronic rs1566278 OR51B5 AU NM_001005567 exon5 c.162983-74380G>A 0.269968 0.3909 Uncertain 11_5452437_G->A 11 5452437 5452437 G A snp 116.77 0/1 99 8 4 4 0.5 intronic rs1566277 OR51B5 AU NM_001005567 exon5 c.162983-74361G>A 0.270966 0.3919 Uncertain 11_5452442_A->G 11 5452442 5452442 A G snp 111.77 0/1 99 8 4 4 0.5 intronic rs1566276 OR51B5 AU NM_001005567 exon5 c.162983-74356A>G 0.270367 0.3899 Uncertain 11_5462085_G->A 11 5462085 5462085 G A snp 2076.77 0/1 99 165 81 84 0.51 exonic rs11037444 OR51I1 AU synonymous SNV NM_001005288 exon1 c.C660T p.Y220Y 0.225639 0.373 0.182441 0.2027 0.3711 Uncertain 11_5462105_T->C 11 5462105 5462105 T C snp 1943.77 0/1 99 156 76 80 0.51 exonic rs60832895 OR51I1 AU nonsynonymous SNV NM_001005288 exon1 c.A640G p.T214A 0.115815 0.3581 0.003078 0.0568 0.3651 0.23 T 0.0 P -0.923 T 0.0 T 0.004 T Pathogenic 11_5462255_C->G 11 5462255 5462255 C G snp 1856.77 0/1 99 136 57 79 0.58 exonic rs11037445 OR51I1 AU nonsynonymous SNV NM_001005288 exon1 c.G490C p.V164L 0.254593 0.373 0.208987 0.2111 0.3734 1 T 0.000 P -1.005 T 0.0 T 0.001 T Pathogenic 11_5462374_C->T 11 5462374 5462374 C T snp 1099.77 0/1 99 104 56 48 0.46 exonic rs16930982 OR51I1 AU nonsynonymous SNV NM_001005288 exon1 c.G371A p.R124H 0.128794 0.3581 0.019237 0.0702 0.3662 0.01 T 0.952 P -1.091 T 0.021 T 0.007 T Pathogenic 11_5462702_G->A 11 5462702 5462702 G A snp 678.77 0/1 99 52 24 28 0.54 exonic rs16930998 OR51I1 AU stopgain NM_001005288 exon1 c.C43T p.Q15X 0.128395 0.3581 0.019160 0.0704 0.3674 0 D 1.0 P Pathogenic 11_5474838_G->T 11 5474838 5474838 G T snp 2256.77 0/1 99 193 108 85 0.44 exonic rs2030094 OR51I2 AU synonymous SNV NM_001004754 exon1 c.G120T p.G40G 0.402157 0.2589 0.492690 0.4493 0.2451 Uncertain 11_5475118_A->G 11 5475118 5475118 A G snp 2796.77 0/1 99 247 133 114 0.46 exonic rs12577167 OR51I2 AU nonsynonymous SNV NM_001004754 exon1 c.A400G p.T134A 0.192692 0.3581 0.107572 0.1663 0.3690 0.12 T 0.000 P -0.912 T 0.002 T 0.002 T Pathogenic 11_5475170_G->C 11 5475170 5475170 G C snp 3371.77 0/1 99 230 101 129 0.56 exonic rs16931292 OR51I2 AU nonsynonymous SNV NM_001004754 exon1 c.G452C p.R151P 0.117612 0.2173 0.100031 0.1182 0.2034 0.01 T 0.0 P -1.044 T 0.836 T 0.657 P Pathogenic 11_5475506_G->A 11 5475506 5475506 G A snp 2401.77 0/1 99 194 95 99 0.51 exonic rs11037502 OR51I2 AU nonsynonymous SNV NM_001004754 exon1 c.G788A p.R263H 0.14357 0.2173 0.126808 0.1260 0.2036 0.01 T 0.233 P -1.181 T 1.0 D 0.998 D Pathogenic 11_5509821_T->C 11 5509821 5509821 T C snp 279.78 1/1 24 9 0 9 1.0 intronic rs393725 OR51B5 AU NM_001005567 exon5 c.162983-16977T>C 0.948482 0.9236 Uncertain 11_5510284_A->G 11 5510284 5510284 A G snp 5566.77 1/1 99 191 0 191 1.0 exonic rs417425 OR52D1 AU synonymous SNV NM_001005163 exon1 c.A348G p.S116S 0.950479 0.9246 0.961142 0.9694 0.9182 Uncertain 11_5510341_C->T 11 5510341 5510341 C T snp 6503.77 1/1 99 227 0 227 1.0 exonic rs404280 OR52D1 AU synonymous SNV NM_001005163 exon1 c.C405T p.Y135Y 0.525359 0.6071 0.542398 0.5857 0.6140 Uncertain 11_5510424_TCT->- 11 5510424 5510426 TCT - indel 6623.73 0/1 99 228 91 137 0.6 exonic rs35986511 OR52D1 AU nonframeshift deletion NM_001005163 exon1 c.488_490del p.163_164del 0.128395 0.3571 0.026038 0.0760 0.3692 Uncertain 11_5510497_T->C 11 5510497 5510497 T C snp 5107.77 1/1 99 175 2 173 0.99 exonic rs2467219 OR52D1 AU synonymous SNV NM_001005163 exon1 c.T561C p.I187I 0.948283 0.9246 0.959526 0.9689 0.9185 Uncertain 11_5510626_T->C 11 5510626 5510626 T C snp 4411.77 1/1 99 158 1 157 0.99 exonic rs444878 OR52D1 AU synonymous SNV NM_001005163 exon1 c.T690C p.H230H 0.948482 0.9246 0.959449 0.9689 0.9180 Uncertain 11_5510928_G->A 11 5510928 5510928 G A snp 2063.77 1/1 99 62 0 62 1.0 UTR3 rs392296 OR52D1 AU 0.948482 0.9246 0.959753 0.9687 0.9180 Uncertain 11_5511003_G->A 11 5511003 5511003 G A snp 505.77 1/1 39 14 0 14 1.0 intronic rs426886 OR51B5 AU NM_001005567 exon5 c.162983-15795G>A 0.948482 0.9246 Uncertain 11_5529865_G->A 11 5529865 5529865 G A snp 2864.77 1/1 99 103 0 103 1.0 exonic rs186434 UBQLN3 AU synonymous SNV NM_017481 exon2 c.C924T p.S308S 0.986222 1 0.989227 0.9970 1 Uncertain 11_5536537_A->C 11 5536537 5536537 A C snp 3670.77 1/1 99 126 0 126 1.0 exonic rs393044 UBQLNL AU nonsynonymous SNV NM_145053 exon1 c.T1135G p.W379G 0.969848 1 0.976762 0.9925 1 0.49 T 0.0 P -1.006 T 0.0 T 0.0 T Pathogenic 11_5537245_G->T 11 5537245 5537245 G T snp 2450.77 1/1 99 84 0 84 1.0 exonic rs3802978 UBQLNL AU nonsynonymous SNV NM_145053 exon1 c.C427A p.Q143K 0.0930511 0.2252 0.037781 0.0471 0.2444 0.2 T 0.0 P -1.030 T 0.035 T 0.018 T Pathogenic 11_5549254_T->C 11 5549254 5549254 T C snp 1109.77 1/1 81 33 0 33 1.0 intergenic rs1498480 UBQLNL AU 0.658946 0.6984 Uncertain 11_5549316_A->G 11 5549316 5549316 A G snp 2618.77 1/1 99 97 0 97 1.0 intergenic rs1846317 UBQLNL AU 0.654553 0.6994 Uncertain 11_5549531_T->C 11 5549531 5549531 T C snp 1383.77 1/1 99 50 0 50 1.0 intergenic rs1560811 UBQLNL AU 0.622404 0.6984 Uncertain 11_5565906_A->G 11 5565906 5565906 A G snp 1726.77 0/1 99 143 66 77 0.54 exonic rs7934354 OR52H1 AU nonsynonymous SNV NM_001005289 exon1 c.T848C p.M283T 0.170727 0.3671 0.060172 0.0818 0.3702 0 D 0.095 P -0.903 T 0.464 P 0.217 P Pathogenic 11_5566030_A->G 11 5566030 5566030 A G snp 3974.77 1/1 99 143 0 143 1.0 exonic rs1995158 OR52H1 AU nonsynonymous SNV NM_001005289 exon1 c.T724C p.C242R 0.890974 0.9196 0.848107 0.8361 0.9305 1 T 0.0 P -0.956 T 0.0 T 0.0 T Pathogenic 11_5566365_T->C 11 5566365 5566365 T C snp 3799.77 1/1 99 135 0 135 1.0 exonic rs1566275 OR52H1 AU nonsynonymous SNV NM_001005289 exon1 c.A389G p.H130R 0.889377 0.9196 0.845260 0.8355 0.9309 1 T 0.000 P -0.924 T 0.0 T 0.0 T ID=CM035852;DIS=Olfactory receptor deficiency;TAG=FP;PUB=12730696 FP Pathogenic 11_5572816_T->C 11 5572816 5572816 T C snp 827.77 1/1 63 24 0 24 1.0 intergenic rs401426 OR52H1 AU 0.583067 0.8383 Uncertain 11_5572837_T->- 11 5572837 5572837 T - indel 1379.73 1/1 99 35 0 35 1.0 intergenic rs11360659 OR52H1 AU 0.557109 0.8383 Uncertain 11_5572966_A->G 11 5572966 5572966 A G snp 3041.77 1/1 99 104 0 104 1.0 intergenic rs423501 OR52H1 AU 0.556909 0.8383 Uncertain 11_5573044_A->G 11 5573044 5573044 A G snp 3790.77 1/1 99 134 0 134 1.0 intergenic rs9666981 OR52H1 AU 0.557109 0.8393 Uncertain 11_5573054_A->G 11 5573054 5573054 A G snp 3852.77 1/1 99 138 0 138 1.0 intergenic rs9666982 OR52H1 AU 0.556909 0.8383 Uncertain 11_5573073_A->G 11 5573073 5573073 A G snp 4033.77 1/1 99 148 0 148 1.0 intergenic rs1694674 OR52H1 AU 0.556709 0.8383 Uncertain 11_5573160_G->C 11 5573160 5573160 G C snp 2764.77 1/1 99 93 0 93 1.0 intergenic rs401835 OR52H1 AU 0.726837 0.9147 Uncertain 11_5573193_A->T 11 5573193 5573193 A T snp 754.77 0/1 99 61 32 29 0.48 intergenic rs11038071 OR52H1 AU 0.121006 0.252 Uncertain 11_5602275_A->G 11 5602275 5602275 A G snp 4603.77 1/1 99 152 0 152 1.0 exonic rs1077126 OR52B6 AU nonsynonymous SNV NM_001005162 exon1 c.A169G p.T57A 0.572284 0.7669 0.395126 0.4287 0.7751 0.3 T 0.0 P -1.098 T 0.0 T 0.002 T Pathogenic 11_5602438_T->A 11 5602438 5602438 T A snp 3970.77 1/1 99 131 0 131 1.0 exonic rs2341432 OR52B6 AU nonsynonymous SNV NM_001005162 exon1 c.T332A p.L111H 0.715056 0.9802 0.545910 0.5745 0.9777 0.15 T 0.0 P -0.967 T 0.0 T 0.0 T Pathogenic 11_5602605_G->A 11 5602605 5602605 G A snp 7254.77 1/1 99 250 0 250 1.0 exonic rs2341433 OR52B6 AU nonsynonymous SNV NM_001005162 exon1 c.G499A p.A167T 0.565296 0.7659 0.392643 0.4270 0.7752 0.73 T 0.0 P -0.984 T 0.013 T 0.022 T Pathogenic 11_5602615_A->G 11 5602615 5602615 A G snp 7407.77 1/1 99 250 0 250 1.0 exonic rs2341434 OR52B6 AU nonsynonymous SNV NM_001005162 exon1 c.A509G p.H170R 0.716653 0.9802 0.545252 0.5746 0.9775 1 T 0.0 P -0.957 T 0.0 T 0.0 T Pathogenic 11_5602679_T->C 11 5602679 5602679 T C snp 7396.77 1/1 99 249 0 249 1.0 exonic rs892336 OR52B6 AU synonymous SNV NM_001005162 exon1 c.T573C p.N191N 0.716454 0.9792 0.549258 0.5744 0.9777 Uncertain 11_5602790_A->G 11 5602790 5602790 A G snp 5468.77 1/1 99 184 0 184 1.0 exonic rs2163946 OR52B6 AU synonymous SNV NM_001005162 exon1 c.A684G p.L228L 0.716853 0.9802 0.551808 0.5741 0.9778 Uncertain 11_5602928_G->C 11 5602928 5602928 G C snp 4874.77 1/1 99 166 0 166 1.0 exonic rs10838375 OR52B6 AU synonymous SNV NM_001005162 exon1 c.G822C p.A274A 0.715855 0.9792 0.548327 0.5738 0.9776 Uncertain 11_5602968_G->A 11 5602968 5602968 G A snp 5003.77 1/1 99 173 0 173 1.0 exonic rs10769086 OR52B6 AU nonsynonymous SNV NM_001005162 exon1 c.G862A p.V288I 0.894569 0.9931 0.816748 0.8101 0.9908 1 T 0.0 P -0.903 T 0.002 T 0.009 T Pathogenic 11_5603136_C->A 11 5603136 5603136 C A snp 1173.77 1/1 87 40 0 40 1.0 downstream rs10838376 OR52B6 AU 0.555112 0.753 0.369733 0.4207 0.7545 Uncertain 11_5603163_G->A 11 5603163 5603163 G A snp 637.77 1/1 48 21 0 21 1.0 downstream rs10838377 OR52B6 AU 0.716853 0.9802 0.542487 0.5679 0.9768 Uncertain 11_5625603_A->G 11 5625603 5625603 A G snp 309.78 1/1 24 10 0 10 1.0 intronic rs7108470 TRIM6 AU NM_058166 exon3 c.1221-160A>G 0.538139 0.6786 Uncertain 11_5625847_A->G 11 5625847 5625847 A G snp 2260.77 1/1 99 77 1 76 0.99 exonic rs3751006 TRIM6 AU synonymous SNV NM_001003818 exon3 c.A591G p.K197K 0.69988 0.7212 0.655048 0.6560 0.7353 Uncertain 11_5629607_G->A 11 5629607 5629607 G A snp 1863.77 1/1 99 66 0 66 1.0 exonic rs10769121 TRIM6 AU synonymous SNV NM_001198645 exon3 c.G231A p.V77V 0.396765 0.4335 0.334872 0.3006 0.4689 Uncertain 11_5631622_G->T 11 5631622 5631622 G T snp 2233.77 1/1 99 75 0 75 1.0 intronic rs7125403 TRIM6 AU NM_001198645 exon5 c.5192-142G>T 0.883786 1 0.9670 1 Uncertain 11_5632212_G->A 11 5632212 5632212 G A snp 4853.77 1/1 99 155 0 155 1.0 exonic rs10769124 TRIM6 AU synonymous SNV NM_001198645 exon6 c.G582A p.L194L 0.789137 0.998 0.687135 0.7652 0.9958 Uncertain 11_5653417_A->G 11 5653417 5653417 A G snp 615.77 1/1 45 20 0 20 1.0 intronic rs4287358 TRIM34 AU 1 1 Uncertain 11_5653418_T->A 11 5653418 5653418 T A snp 694.77 1/1 54 22 0 22 1.0 intronic rs4601818 TRIM34 AU 1 1 Uncertain 11_5655150_T->A 11 5655150 5655150 T A snp 3289.77 1/1 99 129 0 129 1.0 intronic rs7941976 TRIM34 AU NM_130390 exon2 c.1568+21T>A 0.900958 0.996 0.860342 0.8859 0.9984 Uncertain 11_5655233_G->A 11 5655233 5655233 G A snp 529.77 0/1 99 67 44 23 0.34 intronic rs3824951 TRIM34 AU NM_130390 exon2 c.1568+104G>A 0.443291 0.3214 Uncertain 11_5662319_C->T 11 5662319 5662319 C T snp 1819.77 1/1 99 60 0 60 1.0 intronic rs7108834 TRIM34 AU NM_130390 exon4 c.8835-77C>T 0.923922 0.997 0.906921 Uncertain 11_5662611_T->G 11 5662611 5662611 T G snp 155.77 0/1 99 10 5 5 0.5 intronic rs7128128 TRIM34 AU NM_130390 exon4 c.8965+85T>G 0.440895 0.6478 Uncertain 11_5663921_T->- 11 5663921 5663921 T - indel 2843.73 1/1 99 75 0 75 1.0 intronic rs397691268 TRIM34 AU NM_021616 exon7 c.10485-125delT 0.85004 0.996 Uncertain 11_5664337_T->A 11 5664337 5664337 T A snp 42.77 0/1 33 3 1 2 0.67 intronic TRIM34 AU NM_021616 exon8 c.10812-36T>A Uncertain 11_5664344_C->T 11 5664344 5664344 C T snp 67.77 0/1 67 6 3 3 0.5 intronic rs376536851 TRIM34 AU NM_021616 exon8 c.10812-29C>T 0 0 Uncertain 11_5664831_C->A 11 5664831 5664831 C A snp 2567.77 0/1 99 213 104 109 0.51 exonic rs3740998 TRIM34 AU synonymous SNV NM_001003827 exon8 c.C1359A p.G453G 0.377796 0.6458 0.237458 0.3235 0.6193 Uncertain 11_5664974_T->C 11 5664974 5664974 T C snp 6123.77 1/1 99 233 0 233 1.0 UTR3 rs7109861 TRIM34 AU 0.874401 0.997 0.875115 0.9369 0.9985 Uncertain 11_5687562_G->C 11 5687562 5687562 G C snp 123.77 0/1 99 13 6 7 0.54 intronic rs10769167 TRIM5 AU NM_033093 exon3 c.1994+251G>C 0.423922 0.6181 Uncertain 11_5689144_G->C 11 5689144 5689144 G C snp 256.77 0/1 99 15 7 8 0.53 intronic rs11821656 TRIM5 AU NM_033093 exon4 c.3624+203G>C 0.179912 0.1905 Uncertain 11_5691101_C->A 11 5691101 5691101 C A snp 56.74 1/1 6 2 0 2 1.0 intronic rs12292448 TRIM5 AU NM_033093 exon4 c.3624+2160C>A 0.179313 0.1935 Uncertain 11_5691191_C->T 11 5691191 5691191 C T snp 138.77 0/1 99 19 12 7 0.37 intronic rs4309185 TRIM5 AU NM_033093 exon4 c.3624+2250C>T 0.820288 0.8046 0.7386 0.7692 Uncertain 11_5699801_C->A 11 5699801 5699801 C A snp 154.77 0/1 99 8 3 5 0.63 intronic rs3740994 TRIM5 AU NM_033093 exon5 c.14347+137C>A 0.861621 0.8234 Uncertain 11_5700340_T->C 11 5700340 5700340 T C snp 1220.77 0/1 99 114 61 53 0.46 exonic rs3740995 TRIM5 AU synonymous SNV NM_033034 exon3 c.A477G p.L159L 0.811901 0.8304 0.806556 0.8384 0.8209 0.0 P Uncertain 11_5701281_G->A 11 5701281 5701281 G A snp 3102.77 0/1 99 247 113 134 0.54 exonic rs3740996 TRIM5 AU nonsynonymous SNV NM_033034 exon2 c.C127T p.H43Y 0.111422 0.1617 0.100262 0.1230 0.1735 1 T 0.0 P -0.887 T 0.099 T 0.058 T ID=CM068208;DIS=Impaired retroviral defence, association with;TAG=DFP;PUB=16401428 DFP Pathogenic 11_5701409_G->C 11 5701409 5701409 G C snp 3776.77 1/1 99 130 0 130 1.0 UTR5 rs3824949 TRIM5 AU 0.39976 0.4355 0.433852 0.5100 0.4469 Uncertain 11_5717762_T->C 11 5717762 5717762 T C snp 2473.77 0/1 99 175 68 107 0.61 exonic rs10838543 TRIM22 AU synonymous SNV NM_006074 exon2 c.T300C p.H100H 0.394369 0.1766 0.457123 0.4592 0.1793 Uncertain 11_5718517_G->A 11 5718517 5718517 G A snp 892.77 0/1 99 88 48 40 0.45 exonic rs7935564 TRIM22 AU nonsynonymous SNV NM_006074 exon3 c.G463A p.D155N 0.457069 0.1766 0.565594 0.5329 0.1834 0.01 T 0.0 P -0.933 T 0.143 T 0.085 T ID=CM100910;DIS=Rubella vaccine-induced immune response, association with;TAG=DP;PUB=19902255 DP Pathogenic 11_5719667_T->C 11 5719667 5719667 T C snp 880.77 0/1 99 83 45 38 0.46 exonic rs2291842 TRIM22 AU synonymous SNV NM_006074 exon4 c.T642C p.D214D 0.299521 0.2996 0.231574 0.2527 0.2980 Uncertain 11_5719750_G->C 11 5719750 5719750 G C snp 735.77 0/1 99 73 40 33 0.45 exonic rs1063303 TRIM22 AU nonsynonymous SNV NM_006074 exon4 c.G725C p.R242T 0.426917 0.2054 0.513264 0.5114 0.1985 0.06 T 0.0 P -0.977 T 0.009 T 0.016 T ID=CM149349;DIS=Increased TRIM22 expression and decreased antiviral activity;TAG=FP;PUB=24863734 FP Pathogenic 11_5719835_T->C 11 5719835 5719835 T C snp 631.77 1/1 48 18 0 18 1.0 intronic rs2291844 TRIM22 AU NM_001199573 exon4 c.2313+60T>C 0.364417 0.6379 Uncertain 11_5719848_C->T 11 5719848 5719848 C T snp 429.77 1/1 33 12 0 12 1.0 intronic rs7950912 TRIM22 AU NM_001199573 exon4 c.2313+73C>T 0.789936 0.8909 Uncertain 11_5727836_G->A 11 5727836 5727836 G A snp 793.77 0/1 99 77 38 39 0.51 exonic rs143605305 TRIM22 AU nonsynonymous SNV NM_006074 exon5 c.G763A p.V255I 0.00259585 0.0079 0.000169 0.0016 0.0075 0.7 T 1 N -1.016 T 0.005 T 0.003 T Pathogenic 11_5755605_A->G 11 5755605 5755605 A G snp 587.77 1/1 45 15 0 15 1.0 intergenic rs1498552 TRIM22 AU 0.858626 0.7103 Uncertain 11_5758062_T->C 11 5758062 5758062 T C snp 5846.77 1/1 99 186 0 186 1.0 exonic rs7397032 OR56B1 AU nonsynonymous SNV NM_001005180 exon1 c.T316C p.C106R 0.739617 0.748 0.796784 0.8171 0.7453 0.01 T 1.000 P -1.016 T 1.0 D 0.999 D Pathogenic 11_5758118_A->C 11 5758118 5758118 A C snp 6836.77 1/1 99 239 0 239 1.0 exonic rs7396766 OR56B1 AU synonymous SNV NM_001005180 exon1 c.A372C p.L124L 0.851837 0.8909 0.890813 0.9105 0.8772 Uncertain 11_5758646_T->C 11 5758646 5758646 T C snp 2065.77 0/1 99 186 104 82 0.44 exonic rs4486660 OR56B1 AU synonymous SNV NM_001005180 exon1 c.T900C p.Y300Y 0.0944489 0.1696 0.045783 0.0809 0.2063 Uncertain 11_5776287_C->T 11 5776287 5776287 C T snp 7557.77 1/1 99 250 0 250 1.0 exonic rs7936512 OR52N4 AU nonsynonymous SNV NM_001005175 exon1 c.C317T p.T106I 0.922125 0.9067 0.946291 0.9446 0.8937 1 T 0.0 P -1.022 T 0.0 T 0.0 T Pathogenic 11_5776470_T->G 11 5776470 5776470 T G snp 4900.77 1/1 99 166 0 166 1.0 exonic rs7394584 OR52N4 AU nonsynonymous SNV NM_001005175 exon1 c.T500G p.L167R 0.891773 0.9067 0.917515 0.9360 0.8937 1 T 0.0 P -1.003 T 0.0 T 0.001 T Pathogenic 11_5776623_A->T 11 5776623 5776623 A T snp 4820.77 1/1 99 172 0 172 1.0 exonic rs7396938 OR52N4 AU nonsynonymous SNV NM_001005175 exon1 c.A653T p.N218I 0.895767 0.9067 0.921535 0.9371 0.8938 0.57 T 0.0 P -0.960 T 0.0 T 0.0 T Pathogenic 11_5777023_C->T 11 5777023 5777023 C T snp 1065.77 1/1 78 31 0 31 1.0 downstream rs10742782 OR52N4 AU 0.891773 0.9067 Uncertain 11_5777053_A->G 11 5777053 5777053 A G snp 405.77 1/1 33 12 0 12 1.0 downstream rs10742783 OR52N4 AU 0.895767 0.9067 Uncertain 11_5809308_A->T 11 5809308 5809308 A T snp 5566.77 1/1 99 192 0 192 1.0 exonic rs7934670 OR52N1 AU nonsynonymous SNV NM_001001913 exon1 c.T739A p.F247I 0.923922 0.9067 0.939357 0.9456 0.8961 0.95 T 0.000 P -0.974 T 0.0 T 0.0 T Pathogenic 11_5809548_G->A 11 5809548 5809548 G A snp 4460.77 1/1 99 151 0 151 1.0 exonic rs7948009 OR52N1 AU nonsynonymous SNV NM_001001913 exon1 c.C499T p.R167C 0.551717 0.7054 0.548099 0.6316 0.6827 0.01 T 0.320 P -0.937 T 0.08 T 0.082 T Pathogenic 11_5810106_A->- 11 5810106 5810106 A - indel 198.77 1/1 21 11 0 11 1.0 upstream rs61619938 OR52N1 AU Uncertain 11_5817980_C->T 11 5817980 5817980 C T snp 2140.77 0/1 99 149 63 86 0.58 intergenic OR52N1 AU Uncertain 11_5841856_C->T 11 5841856 5841856 C T snp 5032.77 1/1 99 179 2 177 0.99 exonic rs4758435 OR52N2 AU synonymous SNV NM_001005174 exon1 c.C291T p.N97N 0.738618 0.6687 0.786902 0.7717 0.6414 Uncertain 11_5842310_T->G 11 5842310 5842310 T G snp 7528.77 1/1 99 250 0 250 1.0 exonic rs8181529 OR52N2 AU nonsynonymous SNV NM_001005174 exon1 c.T745G p.S249A 0.502995 0.4702 0.570417 0.5621 0.4367 0.32 T 0.000 P -1.066 T 0.0 T 0.0 T Pathogenic 11_5842356_A->G 11 5842356 5842356 A G snp 7282.77 1/1 99 249 0 249 1.0 exonic rs8181512 OR52N2 AU nonsynonymous SNV NM_001005174 exon1 c.A791G p.H264R 0.454273 0.4692 0.492843 0.5121 0.4358 0 D 0.913 P -0.997 T 0.991 D 0.984 D Pathogenic 11_5842628_T->C 11 5842628 5842628 T C snp 423.77 1/1 33 11 0 11 1.0 downstream rs1453439 OR52N2 AU 0.890974 0.9058 Uncertain 11_5877909_C->T 11 5877909 5877909 C T snp 514.77 0/1 99 43 23 20 0.47 downstream rs12417880 OR52E8 AU 0.384784 0.373 Uncertain 11_5877979_T->A 11 5877979 5877979 T A snp 1094.77 0/1 99 110 59 51 0.46 exonic rs12419602 OR52E8 AU stoploss NM_001005168 exon1 c.A954T p.X318Y 0.3748 0.373 0.410631 0.4060 0.3706 0.0 P Uncertain 11_5905412_C->T 11 5905412 5905412 C T snp 601.77 0/1 99 36 15 21 0.58 upstream rs17233457 OR52E4 AU 0.348842 0.3631 Uncertain 11_5906048_G->A 11 5906048 5906048 G A snp 3217.75 0/1 99 247 122 125 0.51 exonic rs4758168 OR52E4 AU nonsynonymous SNV NM_001005165 exon1 c.G526A p.V176I 0.779553 0.8254 0.796214 0.7819 0.8201 1 T 0.0 P -1.008 T 0.0 T 0.001 T Pathogenic 11_5906073_G->T 11 5906073 5906073 G T snp 3381.77 0/1 99 250 127 123 0.49 exonic rs4757986 OR52E4 AU nonsynonymous SNV NM_001005165 exon1 c.G551T p.R184M 0.780152 0.8254 0.796214 0.7820 0.8199 1 T 0.000 P -0.984 T 0.0 T 0.0 T Pathogenic 11_5906143_T->C 11 5906143 5906143 T C snp 2990.77 0/1 99 250 135 115 0.46 exonic rs11823809 OR52E4 AU synonymous SNV NM_001005165 exon1 c.T621C p.Y207Y 0.357827 0.3641 0.394567 0.3902 0.3529 Uncertain 11_5906192_A->C 11 5906192 5906192 A C snp 2850.77 0/1 99 249 141 108 0.43 exonic rs1453435 OR52E4 AU synonymous SNV NM_001005165 exon1 c.A670C p.R224R 0.800319 0.8254 0.815684 0.7878 0.8205 Uncertain 11_5906203_T->G 11 5906203 5906203 T G snp 2969.77 0/1 99 250 138 112 0.45 exonic rs11823828 OR52E4 AU nonsynonymous SNV NM_001005165 exon1 c.T681G p.F227L 0.357827 0.3641 0.394028 0.3903 0.3528 0.18 T 0.0 P -1.050 T 0.035 T 0.107 T Pathogenic 11_5906291_T->C 11 5906291 5906291 T C snp 3012.77 0/1 99 250 132 118 0.47 exonic rs11823842 OR52E4 AU nonsynonymous SNV NM_001005165 exon1 c.T769C p.F257L 0.357428 0.3641 0.393951 0.3902 0.3528 0.54 T 0.009 P -1.232 T 0.0 T 0.008 T Pathogenic 11_5922222_T->C 11 5922222 5922222 T C snp 1947.77 0/1 99 181 102 79 0.44 intergenic rs10160336 OR52E4 AU 0.485224 0.6012 Uncertain 11_5922500_T->C 11 5922500 5922500 T C snp 3183.76 0/1 99 250 120 130 0.52 intergenic rs17234326 OR52E4 AU 0.141773 0.1548 Uncertain 11_5922707_C->T 11 5922707 5922707 C T snp 5862.77 1/1 99 203 0 203 1.0 intergenic rs7106300 OR52E4 AU 0.937101 0.9911 Uncertain 11_5923082_G->A 11 5923082 5923082 G A snp 154.77 0/1 99 14 7 7 0.5 intergenic rs10500656 OR52E4 AU 0.141573 0.1528 Uncertain 11_5923297_A->G 11 5923297 5923297 A G snp 2314.77 1/1 99 83 0 83 1.0 intergenic rs4601752 OR52E4 AU 0.938099 0.9911 Uncertain 11_5923378_G->T 11 5923378 5923378 G T snp 562.77 0/1 99 41 20 21 0.51 intergenic rs77288710 OR52E4 AU 0.141374 0.1528 Uncertain 11_5989293_G->A 11 5989293 5989293 G A snp 2688.77 0/1 99 188 76 112 0.6 exonic rs7113548 OR56A5 AU synonymous SNV NM_001146033 exon1 c.C432T p.V144V 0.228235 0.2133 0.259308 0.3006 0.2545 Uncertain 11_5989415_C->T 11 5989415 5989415 C T snp 712.77 0/1 99 47 24 23 0.49 exonic rs7114672 OR56A5 AU nonsynonymous SNV NM_001146033 exon1 c.G310A p.V104M 0.471845 0.3194 0.541174 0.4003 0.3206 Pathogenic 11_6007272_A->G 11 6007272 6007272 A G snp 2259.77 1/1 99 85 0 85 1.0 exonic rs4237768 OR52L1 AU nonsynonymous SNV NM_001005173 exon1 c.T889C p.W297R 0.829073 0.8681 0.812332 0.8378 0.8709 0.02 T 0.000 P -0.901 T 0.001 T 0.0 T Pathogenic 11_6007613_T->G 11 6007613 6007613 T G snp 4400.77 1/1 99 159 0 159 1.0 exonic rs4354673 OR52L1 AU nonsynonymous SNV NM_001005173 exon1 c.A548C p.K183T 0.71226 0.8671 0.702140 0.7856 0.8708 0.02 T 0.0 P -1.006 T 0.549 P 0.138 P Pathogenic 11_6007680_A->G 11 6007680 6007680 A G snp 5192.77 1/1 99 176 1 175 0.99 exonic rs4436524 OR52L1 AU nonsynonymous SNV NM_001005173 exon1 c.T481C p.C161R 0.750599 0.8631 0.739193 0.7951 0.8668 0.53 T 0.0 P -1.046 T 0.0 T 0.0 T Pathogenic 11_6007743_A->G 11 6007743 6007743 A G snp 6182.77 1/1 99 215 1 214 1.0 exonic rs4436525 OR52L1 AU nonsynonymous SNV NM_001005173 exon1 c.T418C p.C140R 0.800919 0.8681 0.755714 0.7921 0.8695 1 T 0.645 P -0.993 T 0.0 T 0.0 T Pathogenic 11_6048617_G->A 11 6048617 6048617 G A snp 1396.77 0/1 99 121 64 57 0.47 exonic rs183308412 OR56A1 AU synonymous SNV NM_001001917 exon1 c.C318T p.L106L 0.00139776 0.0069 0.0010 0.0143 Uncertain 11_6079001_G->A 11 6079001 6079001 G A snp 2512.77 0/1 99 218 109 109 0.5 intergenic rs4448669 OR56A1 AU 0.414337 0.6865 Uncertain 11_6129837_C->T 11 6129837 6129837 C T snp 4080.77 1/1 99 142 0 142 1.0 exonic rs1462983 OR56B4 AU nonsynonymous SNV NM_001005181 exon1 c.C829T p.P277S 0.503994 0.8839 0.357627 0.5077 0.8511 0.01 T 0.0 P -1.093 T 0.999 D 0.987 D Pathogenic 11_6150738_A->G 11 6150738 6150738 A G snp 1150.77 1/1 84 35 0 35 1.0 intergenic rs325637 OR56B4 AU 0.727236 0.9494 0.6174 0.9528 Uncertain 11_6150814_T->C 11 6150814 6150814 T C snp 99.28 1/1 9 3 0 3 1.0 intergenic rs1841821 OR56B4 AU 0.489417 0.8849 Uncertain 11_6173364_T->A 11 6173364 6173364 T A snp 5940.77 1/1 99 207 0 207 1.0 intergenic rs325695 OR56B4 AU 0.846246 0.9544 0.9203 0.9175 1 T -0.939 T Uncertain 11_6220376_G->C 11 6220376 6220376 G C snp 2549.77 1/1 99 82 0 82 1.0 upstream rs325610 OR52W1 AU 0.765176 0.9692 Uncertain 11_6221169_A->G 11 6221169 6221169 A G snp 4822.77 1/1 99 179 0 179 1.0 exonic rs10839531 OR52W1 AU nonsynonymous SNV NM_001005178 exon1 c.A716G p.H239R 0.678315 0.9593 0.622749 0.7559 0.9659 1 T 0.0 P -0.983 T 0.0 T 0.0 T Pathogenic 11_6221214_T->A 11 6221214 6221214 T A snp 4457.77 1/1 99 167 0 167 1.0 exonic rs11040799 OR52W1 AU nonsynonymous SNV NM_001005178 exon1 c.T761A p.L254Q 0.569888 0.7976 0.589118 0.6795 0.8035 0 D 0.888 P -0.965 T 0.999 D 0.972 D Pathogenic 11_6221427_T->C 11 6221427 6221427 T C snp 2582.77 1/1 99 98 0 98 1.0 downstream rs12417049 OR52W1 AU 0.113219 0.2133 0.055427 0.1130 0.2244 Uncertain 11_6227083_C->T 11 6227083 6227083 C T snp 902.77 1/1 66 31 0 31 1.0 intronic rs10742968 C11orf42 AU NM_173525 exon1 c.72+166C>T 0.579872 0.8016 Uncertain 11_6231731_C->T 11 6231731 6231731 C T snp 5516.77 1/1 99 195 0 195 1.0 exonic rs10769671 C11orf42 AU nonsynonymous SNV NM_173525 exon2 c.C724T p.P242S 0.617212 0.8135 0.640834 0.7046 0.7950 0.3 T 0.0 P -1.020 T 0.001 T 0.006 T Pathogenic 11_6243804_A->G 11 6243804 6243804 A G snp 1598.77 1/1 99 59 0 59 1.0 exonic rs3750945 FAM160A2 AU synonymous SNV NM_001098794 exon6 c.T1059C p.Y353Y 0.728035 0.9593 0.675543 0.7924 0.9651 Uncertain 11_6243843_C->G 11 6243843 6243843 C G snp 1422.77 1/1 99 45 0 45 1.0 splicing rs3750946 FAM160A2 AU NM_001098794 exon7 c.11104+4C>G 0.760184 0.9593 0.713791 0.8028 0.9651 Pathogenic 11_6243963_G->A 11 6243963 6243963 G A snp 901.77 1/1 66 31 0 31 1.0 intronic rs3750947 FAM160A2 AU NM_001098794 exon8 c.11305-77G>A 0.694888 0.9454 Uncertain 11_6243982_T->G 11 6243982 6243982 T G snp 901.77 1/1 66 30 0 30 1.0 intronic rs325606 FAM160A2 AU NM_001098794 exon8 c.11305-58T>G 0.781749 0.9593 Uncertain 11_6260865_G->A 11 6260865 6260865 G A snp 739.77 0/1 99 55 29 26 0.47 intronic rs201459029 CNGA4 AU NM_001037329 exon3 c.477-48G>A 0.000599042 0.003 0.000077 0.0008 0.0111 Uncertain 11_6281108_T->G 11 6281108 6281108 T G snp 377.77 1/1 30 14 0 14 1.0 UTR5 rs2929180 CCKBR AU 0.823283 0.9653 0.804423 0.8095 0.9519 Uncertain 11_6281400_T->C 11 6281400 6281400 T C snp 2622.77 1/1 99 84 1 83 0.99 intronic rs11040819 CCKBR AU NM_176875 exon1 c.151+91T>C 0.764377 0.9673 Uncertain 11_6291659_G->C 11 6291659 6291659 G C snp 336.78 1/1 27 9 0 9 1.0 intronic rs12364575 CCKBR AU NM_176875 exon3 c.10409+92G>C 0.644369 0.9246 Uncertain 11_6292837_C->G 11 6292837 6292837 C G snp 1022.77 1/1 75 32 0 32 1.0 UTR3 rs10839535 CCKBR AU 0.819688 0.9504 Uncertain 11_6292838_G->A 11 6292838 6292838 G A snp 977.77 1/1 38 33 1 32 0.97 UTR3 rs10839536 CCKBR AU 0.833866 0.9504 Uncertain 11_6340525_A->T 11 6340525 6340525 A T snp 2851.77 1/1 99 97 0 97 1.0 exonic rs12570 PRKCDBP AU synonymous SNV NM_145040 exon2 c.T654A p.A218A 0.654752 0.7341 0.643638 0.6868 0.7626 Uncertain 11_6340706_A->G 11 6340706 6340706 A G snp 1715.77 0/1 99 174 101 73 0.42 exonic rs1051992 PRKCDBP AU nonsynonymous SNV NM_145040 exon2 c.T473C p.L158P 0.527955 0.623 0.491363 0.5650 0.6534 0.22 T 0.000 P -0.933 T 0.0 T 0.001 T Pathogenic 11_6341290_G->A 11 6341290 6341290 G A snp 1736.77 0/1 99 121 41 80 0.66 intronic rs117510709 PRKCDBP AU NM_145040 exon2 c.930-32G>A 0.00219649 0.0109 0.0012 0.0143 Uncertain 11_6341365_C->T 11 6341365 6341365 C T snp 2048.77 0/1 99 134 51 83 0.62 exonic rs11544764 PRKCDBP AU synonymous SNV NM_145040 exon1 c.G342A p.G114G 0.0864617 0.1438 0.088245 0.1275 0.1768 Uncertain 11_6341684_C->G 11 6341684 6341684 C G snp 1152.77 1/1 84 40 0 40 1.0 exonic rs2682123 PRKCDBP AU nonsynonymous SNV NM_145040 exon1 c.G23C p.R8P 0.946486 1 0.943959 0.9690 0.9998 0.35 T 0.0 P -1.017 T 0.0 T 0.0 T Pathogenic 11_6341748_C->T 11 6341748 6341748 C T snp 227.77 0/1 57 9 2 7 0.78 upstream rs1994519 PRKCDBP AU 0.525359 0.5942 0.502551 0.5710 0.6451 Uncertain 11_6411935_T->C 11 6411935 6411935 T C snp 4034.77 1/1 99 143 0 143 1.0 exonic rs1050228 SMPD1 AR nonsynonymous SNV NM_000543 exon1 c.T107C p.V36A 0.561302 0.8075 0.454595 0.5580 0.7827 0.45 T 0.0 P -1.056 T 0.0 T 0.0 T CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000079189.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 ID=CM154141;DIS=Niemann-Pick disease;TAG=DM;PUB=25811928 DM Pathogenic 11_6416959_C->T 11 6416959 6416959 C T snp 5681.77 1/1 99 207 0 207 1.0 intronic rs1800606 APBB1 AU NM_001257323 exon1 c.168+28C>T 0.877995 0.9871 0.881561 0.8623 0.9932 Uncertain 11_6501432_G->C 11 6501432 6501432 G C snp 449.77 0/1 99 33 19 14 0.42 intronic rs148577248 ARFIP2 AU NM_001242854 exon7 c.3210-120G>C 0.00359425 0.0139 Uncertain 11_6541580_T->G 11 6541580 6541580 T G snp 306.77 0/1 99 40 25 15 0.38 UTR3 rs2555143 DNHD1 AU 0.59345 0.2788 0.675427 Uncertain 11_6549634_-->GT 11 6549634 6549634 - GT indel 815.73 ./1 99 17 0 17 1.0 intronic rs71470014 DNHD1 AU NM_144666 exon11 c.30306-117insGT Uncertain 11_6549634_-->GTGT 11 6549634 6549634 - GTGT indel 815.73 ./1 99 17 0 17 1.0 intronic rs397780353 DNHD1 AU NM_144666 exon11 c.30306-117insGTGT 0.520367 0.7173 Uncertain 11_6549779_A->C 11 6549779 6549779 A C snp 1704.77 1/1 99 62 0 62 1.0 exonic rs4633449 DNHD1 AU nonsynonymous SNV NM_144666 exon11 c.A1865C p.D622A 0.730032 0.874 0.677179 0.7232 0.8762 0.84 T 0.0 P -1.014 T 0.0 T 0.0 T Pathogenic 11_6549995_A->G 11 6549995 6549995 A G snp 2480.77 1/1 99 87 0 87 1.0 exonic rs7480644 DNHD1 AU nonsynonymous SNV NM_144666 exon11 c.A2081G p.N694S 0.725439 0.87 0.674113 0.7199 0.8694 0.73 T 0.0 P -1.006 T 0.009 T 0.005 T Pathogenic 11_6550004_A->G 11 6550004 6550004 A G snp 2401.77 1/1 99 85 0 85 1.0 exonic rs2344828 DNHD1 AU nonsynonymous SNV NM_144666 exon11 c.A2090G p.Q697R 0.730032 0.874 0.678055 0.7229 0.8754 0.36 T 0.0 P -1.054 T 0.041 T 0.037 T Pathogenic 11_6550309_G->A 11 6550309 6550309 G A snp 1040.77 1/1 75 34 0 34 1.0 exonic rs2344829 DNHD1 AU nonsynonymous SNV NM_144666 exon12 c.G2305A p.G769R 0.715256 0.874 0.663820 0.7164 0.8762 0.32 T 0.0 P -1.040 T 0.0 T 0.0 T Pathogenic 11_6554941_C->A 11 6554941 6554941 C A snp 1503.77 0/1 99 109 48 61 0.56 exonic rs4282961 DNHD1 AU nonsynonymous SNV NM_144666 exon14 c.C2536A p.L846M 0.213458 0.131 0.276610 0.2737 0.1212 0.02 T 0.007 P -0.993 T 1.0 D 0.998 D Pathogenic 11_6555365_A->G 11 6555365 6555365 A G snp 3933.77 0/1 99 248 110 138 0.56 exonic rs7103810 DNHD1 AU nonsynonymous SNV NM_144666 exon14 c.A2960G p.D987G 0.867013 0.9167 0.839685 0.8604 0.9211 0.35 T 0.0 P -1.054 T 0.0 T 0.0 T Pathogenic 11_6559779_G->C 11 6559779 6559779 G C snp 2876.77 0/1 99 250 130 120 0.48 intronic rs147806015 DNHD1 AU NM_144666 exon15 c.40295+39G>C 0.00359425 0.0179 0.0008 0.0209 Uncertain 11_6560141_A->C 11 6560141 6560141 A C snp 155.77 0/1 99 26 18 8 0.31 intronic rs11040914 DNHD1 AU NM_144666 exon16 c.40595+101A>C 0.845048 0.9177 Uncertain 11_6565669_T->G 11 6565669 6565669 T G snp 154.77 0/1 99 9 4 5 0.56 intronic rs2288281 DNHD1 AU NM_144666 exon20 c.46358-134T>G 0.0832668 0.1062 Uncertain 11_6567895_-->TGCCCTACTGCA 11 6567895 6567895 - TGCCCTACTGCA indel 15768.7 1/1 99 137 0 137 1.0 exonic rs11268490 DNHD1 AU nonframeshift insertion NM_144666 exon21 c.5726_5727insTGCCCTACTGCA p.A1909delinsAALLH 0.994209 0.998 0.992142 0.9986 1 ID=COSM1356043,COSM1356044;OCCURENCE=1(large_intestine),2(breast) Uncertain 11_6579106_C->A 11 6579106 6579106 C A snp 3303.77 0/1 99 223 96 127 0.57 exonic rs11040920 DNHD1 AU nonsynonymous SNV NM_144666 exon25 c.C8581A p.H2861N 0.238618 0.2242 0.3081 0.2285 0.51 T 0.0 P -0.899 T 0.001 T 0.002 T Pathogenic 11_6579539_A->G 11 6579539 6579539 A G snp 323.77 0/1 99 23 9 14 0.61 intronic rs10839583 DNHD1 AU NM_144666 exon25 c.60082+12A>G 0.265176 0.2391 0.333552 0.3427 0.2370 Uncertain 11_6585007_G->A 11 6585007 6585007 G A snp 2471.77 0/1 99 188 89 99 0.53 exonic rs11040923 DNHD1 AU nonsynonymous SNV NM_144666 exon31 c.G9937A p.D3313N 0.435703 0.7212 0.382173 0.4973 0.7292 0.16 T 0.0 P -0.944 T 0.031 T 0.023 T Pathogenic 11_6585502_T->C 11 6585502 6585502 T C snp 990.77 1/1 75 28 0 28 1.0 intronic rs7107072 DNHD1 AU NM_144666 exon32 c.66117-60T>C 0.733427 0.9802 Uncertain 11_6588228_G->A 11 6588228 6588228 G A snp 2064.77 0/1 99 191 101 90 0.47 exonic rs10769699 DNHD1 AU nonsynonymous SNV NM_144666 exon36 c.G11489A p.R3830H 0.233027 0.2222 0.295433 0.3304 0.2452 0.19 T 0.0 P -0.908 T 0.029 T 0.005 T Pathogenic 11_6591157_A->G 11 6591157 6591157 A G snp 787.77 0/1 99 60 28 32 0.53 intronic rs10839585 DNHD1 AU NM_144666 exon40 c.71793-81A>G 0.466653 0.7589 Uncertain 11_6622714_G->A 11 6622714 6622714 G A snp 996.77 0/1 99 102 60 42 0.41 exonic rs2288283 RRP8 AU synonymous SNV NM_015324 exon3 c.C582T p.N194N 0.739018 0.9137 0.729414 0.8197 0.8760 Uncertain 11_6622857_G->A 11 6622857 6622857 G A snp 559.77 0/1 99 39 16 23 0.59 intronic rs11826421 RRP8 AU NM_015324 exon5 c.1457+25G>A 0.437899 0.7242 0.387025 0.4924 0.7009 Uncertain 11_6626049_G->A 11 6626049 6626049 G A snp 709.77 0/1 99 56 25 31 0.55 intronic rs55802517 ILK AU NM_001014795 exon1 c.89+459G>A 0.334065 0.3611 0.2617 0.3582 Uncertain 11_6626072_C->A 11 6626072 6626072 C A snp 757.77 0/1 99 74 38 36 0.49 intronic rs12272856 ILK AU NM_001014795 exon1 c.89+482C>A 0.342053 0.3571 0.2616 0.3582 Uncertain 11_6629530_G->A 11 6629530 6629530 G A snp 1002.77 0/1 99 88 47 41 0.47 intronic rs2048092 ILK AU NM_001014795 exon2 c.3940+89G>A 0.477236 0.4355 Uncertain 11_6629665_C->T 11 6629665 6629665 C T snp 495.77 0/1 99 59 38 21 0.36 exonic rs1043388 ILK AU synonymous SNV NM_004517 exon4 c.C297T p.H99H 0.314696 0.3512 0.294982 0.2677 0.3436 CLINSIG=non-pathogenic;CLNDBN=not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000125415.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Uncertain 11_6630029_C->- 11 6630029 6630029 C - indel 9396.73 1/1 99 249 0 249 1.0 intronic rs11314683 ILK AU NM_001014795 exon4 c.4519+9delC 1 1 1.0000 1 Uncertain 11_6630833_G->A 11 6630833 6630833 G A snp 1134.77 0/1 99 104 60 44 0.42 exonic rs1043390 ILK AU synonymous SNV NM_004517 exon9 c.G819A p.P273P 0.347444 0.3492 0.326920 0.2782 0.3454 CLINSIG=non-pathogenic;CLNDBN=not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000125417.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Uncertain 11_6632349_C->G 11 6632349 6632349 C G snp 93.77 0/1 99 10 6 4 0.4 intronic rs2555174 TAF10 AU NM_006284 exon2 c.267-70C>G 0.330671 0.3571 Uncertain 11_6632857_A->T 11 6632857 6632857 A T snp 1092.77 0/1 99 85 39 46 0.54 intronic rs1876300 TAF10 AU NM_006284 exon4 c.742-37A>T 0.415535 0.5635 0.361479 0.4510 0.5391 Uncertain 11_6636106_T->A 11 6636106 6636106 T A snp 322.77 0/1 99 39 21 18 0.46 exonic rs1128396 TPP1 AR synonymous SNV NM_000391 exon12 c.A1542T p.G514G 0.23123 0.3512 0.185393 0.1933 0.3482 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000118652.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 11_6637504_G->A 11 6637504 6637504 G A snp 457.77 0/1 99 34 18 16 0.47 intronic rs2072651 TPP1 AR NM_000391 exon6 c.1769-41G>A 0.222244 0.3433 0.183546 0.1899 0.3330 Uncertain 11_6637518_A->G 11 6637518 6637518 A G snp 1203.77 1/1 87 36 0 36 1.0 intronic rs7943955 TPP1 AR NM_000391 exon6 c.1769-27A>G 0.989816 1 0.989611 0.9969 1 Uncertain 11_6638506_A->T 11 6638506 6638506 A T snp 1572.77 0/1 99 112 53 59 0.53 intronic rs1800738 TPP1 AR NM_000391 exon9 c.2755-25A>T 0.462061 0.5575 0.465676 0.5494 0.5414 Uncertain 11_6646108_T->C 11 6646108 6646108 T C snp 447.77 0/1 99 54 34 20 0.37 intronic rs10458926 DCHS1 AR,AD NM_003737 exon2 c.3090+9T>C 0.197883 0.3522 0.155302 0.1891 0.3488 Uncertain 11_6647622_T->C 11 6647622 6647622 T C snp 1214.77 0/1 99 106 51 55 0.52 intronic rs11827437 DCHS1 AR,AD NM_003737 exon6 c.4602+11T>C 0.336661 0.4246 0.337233 0.3742 0.4601 Uncertain 11_6647931_C->T 11 6647931 6647931 C T snp 2265.77 0/1 99 177 84 93 0.53 intronic rs34782445 DCHS1 AR,AD NM_003737 exon7 c.4887+35C>T 0.320288 0.4246 0.323996 0.3622 0.4479 Uncertain 11_6647978_C->T 11 6647978 6647978 C T snp 2910.77 0/1 99 231 104 127 0.55 intronic rs4442534 DCHS1 AR,AD NM_003737 exon8 c.5010-41C>T 0.320887 0.4246 0.322380 0.3630 0.4488 Uncertain 11_6648424_G->A 11 6648424 6648424 G A snp 2441.77 0/1 99 169 72 97 0.57 exonic rs4758443 DCHS1 AR,AD nonsynonymous SNV NM_003737 exon14 c.C5846T p.T1949M 0.297524 0.4236 0.301524 0.3559 0.4491 0.15 T 0.000 P -0.948 T 0.023 T 0.01 T Pathogenic 11_6648937_C->T 11 6648937 6648937 C T snp 340.77 0/1 99 30 16 14 0.47 intronic rs11040937 DCHS1 AR,AD NM_003737 exon8 c.5889+39C>T 0.319289 0.4246 0.297869 0.3721 0.4542 Uncertain 11_6651810_A->G 11 6651810 6651810 A G snp 851.77 0/1 99 88 51 37 0.42 exonic rs2659872 DCHS1 AR,AD synonymous SNV NM_003737 exon10 c.T4215C p.L1405L 0.529752 0.4365 0.396091 0.5182 0.5556 Uncertain 11_6652618_C->T 11 6652618 6652618 C T snp 2756.77 0/1 99 241 123 118 0.49 exonic rs2659871 DCHS1 AR,AD synonymous SNV NM_003737 exon8 c.G3696A p.P1232P 0.451478 0.4325 0.445205 0.4153 0.4540 Uncertain 11_6653232_C->G 11 6653232 6653232 C G snp 687.77 0/1 99 62 34 28 0.45 intronic rs2659870 DCHS1 AR,AD NM_003737 exon16 c.10252-29C>G 0.411542 0.4266 0.402709 0.4063 0.4592 Uncertain 11_6654613_A->G 11 6654613 6654613 A G snp 220.77 0/1 99 25 12 13 0.52 intronic rs11040938 DCHS1 AR,AD NM_003737 exon17 c.11633-29A>G 0.533746 0.4454 0.540487 0.5046 0.4664 Uncertain 11_6655332_T->A 11 6655332 6655332 T A snp 3398.77 0/1 99 250 122 128 0.51 intronic rs2659869 DCHS1 AR,AD NM_003737 exon19 c.12339-16T>A 0.38738 0.4355 0.386563 0.3888 0.4532 Uncertain 11_6655433_G->A 11 6655433 6655433 G A snp 2668.77 0/1 99 235 120 115 0.49 exonic rs997263 DCHS1 AR,AD synonymous SNV NM_003737 exon3 c.C1902T p.H634H 0.346446 0.4296 0.347468 0.3750 0.4520 Uncertain 11_6737979_T->C 11 6737979 6737979 T C snp 6577.77 1/1 99 240 1 239 1.0 ncRNA_exonic rs11040982 GVINP1 AU 0.10643 0.253 0.1085 0.2961 Uncertain 11_6739109_G->A 11 6739109 6739109 G A snp 8003.77 1/1 99 250 0 250 1.0 ncRNA_exonic rs7112561 GVINP1 AU 0.450479 0.4821 0.5364 0.5340 Uncertain 11_6739407_A->G 11 6739407 6739407 A G snp 4839.77 1/1 99 159 0 159 1.0 ncRNA_exonic rs12284429 GVINP1 AU 0.482628 0.4821 0.5407 0.525 Uncertain 11_6739814_C->T 11 6739814 6739814 C T snp 6987.77 1/1 99 249 1 248 1.0 ncRNA_exonic rs7114441 GVINP1 AU 0.729233 0.8383 0.8012 0.8267 Uncertain 11_6739822_T->C 11 6739822 6739822 T C snp 7302.77 1/1 99 250 0 250 1.0 ncRNA_exonic rs7102825 GVINP1 AU 0.582468 0.6052 0.6732 0.6386 Uncertain 11_6740308_C->T 11 6740308 6740308 C T snp 7040.77 1/1 99 241 0 241 1.0 ncRNA_exonic rs12223353 GVINP1 AU 0.332867 0.4226 0.3942 0.4412 Uncertain 11_6790106_T->C 11 6790106 6790106 T C snp 2949.77 1/1 99 104 0 104 1.0 exonic rs7102536 OR2AG2 AU nonsynonymous SNV NM_001004490 exon1 c.A83G p.Y28C 0.877196 0.9286 0.855857 0.8537 0.9444 0.32 T 0.000 P -1.036 T 0.0 T 0.0 T Pathogenic 11_6807243_G->A 11 6807243 6807243 G A snp 2600.77 1/1 99 94 0 94 1.0 UTR3 rs497681 OR2AG1 AU 0.565895 0.6329 0.579113 0.5763 0.6503 Uncertain 11_6807330_T->C 11 6807330 6807330 T C snp 658.77 1/1 54 20 0 20 1.0 downstream rs11041023 OR2AG1 AU 0.151558 0.2718 Uncertain 11_6816778_A->G 11 6816778 6816778 A G snp 4610.77 1/1 99 167 0 167 1.0 exonic rs866347 OR6A2 AU synonymous SNV NM_003696 exon1 c.T162C p.S54S 0.694289 0.8224 0.685008 0.7306 0.8365 Uncertain 11_6816875_G->A 11 6816875 6816875 G A snp 2082.77 1/1 99 75 0 75 1.0 exonic rs7122644 OR6A2 AU nonsynonymous SNV NM_003696 exon1 c.C65T p.A22V 0.312899 0.4623 0.261274 0.2991 0.4839 0.54 T 0.0 P -0.979 T 0.001 T 0.0 T Pathogenic 11_6867894_T->C 11 6867894 6867894 T C snp 2559.77 1/1 99 79 0 79 1.0 downstream rs7105094 OR10A5 AU 0.336062 0.4593 0.277589 0.3100 0.4857 Uncertain 11_6867950_G->A 11 6867950 6867950 G A snp 633.77 1/1 48 21 0 21 1.0 downstream rs2595440 OR10A5 AU 0.794129 0.8214 Uncertain 11_6891704_T->C 11 6891704 6891704 T C snp 8050.77 1/1 99 250 0 250 1.0 exonic rs10839632 OR10A2 AU nonsynonymous SNV NM_001004460 exon1 c.T719C p.I240T 0.310903 0.4067 0.268509 0.3019 0.4315 0 D 0.000 P -0.946 T 0.0 T 0.002 T Pathogenic 11_6898663_G->A 11 6898663 6898663 G A snp 5618.77 1/1 99 201 0 201 1.0 exonic rs10839635 OR10A4 AU nonsynonymous SNV NM_207186 exon1 c.G785A p.R262Q 0.309105 0.3988 0.267970 0.3007 0.4276 0.53 T 0.027 P -0.978 T 0.907 T 0.627 P Pathogenic 11_6913244_A->G 11 6913244 6913244 A G snp 4443.77 1/1 99 148 0 148 1.0 exonic rs1965208 OR2D2 AU nonsynonymous SNV NM_003700 exon1 c.T488C p.I163T 0.944489 1 0.945898 0.9834 1 1 T 0.001 P -0.903 T 0.0 T 0.001 T Pathogenic 11_6942628_A->C 11 6942628 6942628 A C snp 5048.77 1/1 99 177 0 177 1.0 exonic rs11605995 OR2D3 AU synonymous SNV NM_001004684 exon1 c.A396C p.A132A 0.407348 0.4464 0.321687 0.2814 0.4393 Uncertain 11_6942952_T->C 11 6942952 6942952 T C snp 5317.77 1/1 99 177 0 177 1.0 exonic rs2035844 OR2D3 AU synonymous SNV NM_001004684 exon1 c.T720C p.T240T 0.407348 0.4464 0.321687 0.2804 0.4388 Uncertain 11_6943254_C->T 11 6943254 6943254 C T snp 3043.77 1/1 99 108 0 108 1.0 downstream rs1388535 OR2D3 AU 0.407348 0.4464 0.308249 0.2810 0.4374 Uncertain 11_6962971_C->T 11 6962971 6962971 C T snp 1822.77 1/1 99 64 0 64 1.0 intronic rs10839663 ZNF215 AU NM_013250 exon4 c.9381+87C>T 0.437101 0.4524 Uncertain 11_6965012_C->G 11 6965012 6965012 C G snp 563.77 1/1 42 18 0 18 1.0 intronic rs2515947 ZNF215 AU NM_013250 exon6 c.11369+140C>G 0.901158 0.8304 Uncertain 11_6977175_G->C 11 6977175 6977175 G C snp 3062.77 1/1 99 99 0 99 1.0 exonic rs2239730 ZNF215 AU nonsynonymous SNV NM_013250 exon7 c.G967C p.V323L 0.195487 0.1419 0.254273 0.1932 0.1381 0.03 T 0.0 P -0.903 T 0.0 T 0.0 T Pathogenic 11_7022038_A->G 11 7022038 7022038 A G snp 3228.29 0/1 99 249 119 130 0.52 exonic rs12575236 ZNF214 AU synonymous SNV NM_013249 exon3 c.T876C p.F292F 0.20028 0.2431 0.173160 0.2370 0.2642 Uncertain 11_7022160_A->G 11 7022160 7022160 A G snp 6126.77 1/1 99 208 0 208 1.0 exonic rs2857919 ZNF214 AU nonsynonymous SNV NM_013249 exon3 c.T754C p.C252R 0.909545 1 0.893489 0.9512 0.9994 0.01 T 0.013 P -0.962 T 0.001 T 0.001 T Pathogenic 11_7022531_A->T 11 7022531 7022531 A T snp 5043.77 1/1 99 163 0 163 1.0 exonic rs1156525 ZNF214 AU nonsynonymous SNV NM_013249 exon3 c.T383A p.L128H 0.575679 0.7073 0.554649 0.6266 0.7455 0.6 T 0.0 P -1.033 T 0.0 T 0.0 T Pathogenic 11_7022717_T->C 11 7022717 7022717 T C snp 4742.77 1/1 99 173 0 173 1.0 exonic rs1156526 ZNF214 AU nonsynonymous SNV NM_013249 exon3 c.A197G p.Y66C 0.592652 0.7073 0.550031 0.6323 0.7465 0.37 T 0.0 P -1.052 T 0.0 T 0.0 T Pathogenic 11_7059960_A->C 11 7059960 7059960 A C snp 3004.77 1/1 99 99 0 99 1.0 exonic rs12801277 NLRP14 AU nonsynonymous SNV NM_176822 exon2 c.A143C p.N48T 0.966054 1 0.963676 0.9896 1 0.97 T 0.0 P -0.989 T 0.0 T 0.0 T Pathogenic 11_7060237_G->- 11 7060237 7060237 G - indel 769.73 1/1 54 21 0 21 1.0 intronic rs11288450 NLRP14 AU NM_176822 exon2 c.289+131delG 0.636382 0.7054 Uncertain 11_7063755_C->T 11 7063755 7063755 C T snp 3007.77 1/1 99 109 0 109 1.0 exonic rs7123944 NLRP14 AU synonymous SNV NM_176822 exon4 c.C498T p.F166F 0.959265 1 0.955056 0.9864 1 Uncertain 11_7065289_C->A 11 7065289 7065289 C A snp 1125.77 1/1 84 32 0 32 1.0 intronic rs6578821 NLRP14 AU NM_176822 exon4 c.5398+74C>A 0.719848 0.8502 Uncertain 11_7067701_G->T 11 7067701 7067701 G T snp 50.74 1/1 6 2 0 2 1.0 intronic rs7109723 NLRP14 AU NM_176822 exon5 c.8081-197G>T 0.585863 0.7004 Uncertain 11_7070866_G->A 11 7070866 7070866 G A snp 1833.77 1/1 99 55 0 55 1.0 intronic rs1552727 NLRP14 AU NM_176822 exon6 c.11084-35G>A 0.640775 0.8502 0.538941 0.6392 0.8807 Uncertain 11_7071031_G->A 11 7071031 7071031 G A snp 6308.77 1/1 99 243 0 243 1.0 exonic rs1552726 NLRP14 AU synonymous SNV NM_176822 exon6 c.G2253A p.E751E 0.935104 1 0.929737 0.9802 1 Uncertain 11_7079038_G->A 11 7079038 7079038 G A snp 5615.77 1/1 99 201 0 201 1.0 exonic rs10839708 NLRP14 AU nonsynonymous SNV NM_176822 exon7 c.G2422A p.E808K 0.565895 0.7063 0.511236 0.6051 0.7486 0.3 T 0.774 P -0.966 T 0.955 T 0.721 D Pathogenic 11_7091772_C->A 11 7091772 7091772 C A snp 2657.77 1/1 99 96 0 96 1.0 intronic rs10769763 NLRP14 AU NM_176822 exon11 c.31870+85C>A 0.714257 0.9157 Uncertain 11_7110363_G->A 11 7110363 7110363 G A snp 3159.77 0/1 99 238 103 135 0.57 exonic rs4758158 RBMXL2 AU synonymous SNV NM_014469 exon1 c.G12A p.A4A 0.317292 0.4385 0.273973 0.3715 0.4695 Uncertain 11_7110751_A->G 11 7110751 7110751 A G snp 1187.77 1/1 87 40 0 40 1.0 exonic rs11041171 RBMXL2 AU nonsynonymous SNV NM_014469 exon1 c.A400G p.T134A 0.965855 1 0.9935 1 0.57 T 0.0 P -0.992 T 0.0 T 0.0 T Pathogenic 11_7324475_T->C 11 7324475 7324475 T C snp 6457.77 1/1 99 221 0 221 1.0 exonic rs4412741 SYT9 AU synonymous SNV NM_175733 exon2 c.T351C p.D117D 0.977835 1 0.980068 0.9940 1 Uncertain 11_7439095_A->G 11 7439095 7439095 A G snp 719.77 1/1 54 24 0 24 1.0 intronic rs35452185 SYT9 AU NM_175733 exon5 c.165770-92A>G 0.172923 0.2917 Uncertain 11_7439114_C->T 11 7439114 7439114 C T snp 631.77 0/1 99 34 12 22 0.65 intronic rs71472646 SYT9 AU NM_175733 exon5 c.165770-73C>T 0.0509185 0.1756 Uncertain 11_7439264_C->T 11 7439264 7439264 C T snp 3266.77 1/1 99 123 0 123 1.0 exonic rs34058874 SYT9 AU synonymous SNV NM_175733 exon5 c.C1242T p.T414T 0.171526 0.2897 0.139911 0.1484 0.2978 Uncertain 11_7439418_A->G 11 7439418 7439418 A G snp 836.77 1/1 63 23 0 23 1.0 intronic rs12365591 SYT9 AU NM_175733 exon5 c.165942+59A>G 0.172724 0.2927 Uncertain 11_7439447_C->T 11 7439447 7439447 C T snp 258.8 1/1 21 7 0 7 1.0 intronic rs12364093 SYT9 AU NM_175733 exon5 c.165942+88C>T 0.172324 0.2917 Uncertain 11_7441737_T->C 11 7441737 7441737 T C snp 1382.77 0/1 99 120 62 58 0.48 exonic rs11041372 SYT9 AU synonymous SNV NM_175733 exon6 c.T1338C p.R446R 0.105831 0.1131 0.108050 0.1132 0.1271 Uncertain 11_7441952_A->G 11 7441952 7441952 A G snp 1110.77 1/1 81 35 0 35 1.0 intronic rs11041373 SYT9 AU NM_175733 exon6 c.168449+86A>G 0.174321 0.3214 Uncertain 11_7441974_G->A 11 7441974 7441974 G A snp 174.77 0/1 99 24 16 8 0.33 intronic rs35557297 SYT9 AU NM_175733 exon6 c.168449+108G>A 0.0714856 0.1726 Uncertain 11_7586738_G->T 11 7586738 7586738 G T snp 193.77 0/1 99 20 10 10 0.5 intronic rs6578874 PPFIBP2 AU NM_003621 exon3 c.16077-45G>T 0.530751 0.3859 0.591350 0.4787 0.3967 Uncertain 11_7587003_G->A 11 7587003 7587003 G A snp 870.77 0/1 99 80 44 36 0.45 splicing rs139187268 PPFIBP2 AU NM_003621 exon3 c.16292+5G>A 0.000798722 0.004 0.0002 0.0031 Pathogenic 11_7598952_C->G 11 7598952 7598952 C G snp 180.77 0/1 99 28 17 11 0.39 intronic rs6578880 PPFIBP2 AU NM_003621 exon3 c.16292+11954C>G 0.628794 0.5387 Uncertain 11_7614282_T->C 11 7614282 7614282 T C snp 782.77 0/1 99 40 12 28 0.7 intronic rs7939893 PPFIBP2 AU NM_003621 exon4 c.43656-80T>C 0.323083 0.2917 Uncertain 11_7614283_G->A 11 7614283 7614283 G A snp 778.77 0/1 99 40 12 28 0.7 intronic rs7949805 PPFIBP2 AU NM_003621 exon4 c.43656-79G>A 0.255391 0.248 Uncertain 11_7614492_A->G 11 7614492 7614492 A G snp 937.77 0/1 99 116 69 47 0.41 intronic rs7115173 PPFIBP2 AU NM_003621 exon4 c.43749+37A>G 0.333466 0.4563 0.311682 0.3615 0.4590 Uncertain 11_7614531_C->A 11 7614531 7614531 C A snp 1921.77 1/1 99 72 1 71 0.99 intronic rs7129888 PPFIBP2 AU NM_003621 exon4 c.43749+76C>A 0.628594 0.7034 Uncertain 11_7618953_G->A 11 7618953 7618953 G A snp 774.77 1/1 57 30 0 30 1.0 intronic rs4758203 PPFIBP2 AU NM_003621 exon5 c.48198+49G>A 0.349042 0.5377 0.237109 0.3024 0.5591 Uncertain 11_7619041_G->A 11 7619041 7619041 G A snp 96.28 1/1 9 3 0 3 1.0 intronic rs4758204 PPFIBP2 AU NM_003621 exon5 c.48198+137G>A 0.95008 1 Uncertain 11_7619518_T->C 11 7619518 7619518 T C snp 1052.77 1/1 75 41 0 41 1.0 intronic rs4758206 PPFIBP2 AU NM_003621 exon5 c.48198+614T>C 0.854633 0.9563 0.9243 0.9846 0.0 P -1.043 T Uncertain 11_7642031_G->A 11 7642031 7642031 G A snp 1872.77 1/1 99 55 0 55 1.0 intronic rs10769813 PPFIBP2 AU NM_003621 exon7 c.71459-134G>A 0.605431 0.876 Uncertain 11_7642407_T->C 11 7642407 7642407 T C snp 554.77 1/1 42 15 0 15 1.0 intronic rs10839822 PPFIBP2 AU NM_003621 exon7 c.71552+149T>C 0.850839 0.749 Uncertain 11_7649640_C->G 11 7649640 7649640 C G snp 5003.77 1/1 99 188 0 188 1.0 intronic rs6578886 PPFIBP2 AU NM_003621 exon9 c.78871+63C>G 0.511182 0.5992 0.526062 Uncertain 11_7650607_A->C 11 7650607 7650607 A C snp 4476.77 1/1 99 159 0 159 1.0 intronic rs6578887 PPFIBP2 AU NM_003621 exon10 c.79983-82A>C 0.61901 0.6468 0.602716 Uncertain 11_7652385_T->A 11 7652385 7652385 T A snp 516.77 1/1 39 14 0 14 1.0 intronic rs4130354 PPFIBP2 AU NM_003621 exon11 c.81553+126T>A 0.571685 0.6389 Uncertain 11_7660921_C->T 11 7660921 7660921 C T snp 1422.77 0/1 99 121 61 60 0.5 intronic rs11041491 PPFIBP2 AU NM_003621 exon15 c.90256-41C>T 0.198482 0.4464 0.134139 0.1597 0.4188 Uncertain 11_7662361_C->T 11 7662361 7662361 C T snp 656.77 0/1 99 56 30 26 0.46 intronic rs10839829 PPFIBP2 AU NM_003621 exon16 c.92003-348C>T 0.217851 0.4573 0.1712 0.4507 Uncertain 11_7662732_C->T 11 7662732 7662732 C T snp 1363.77 0/1 99 130 71 59 0.45 exonic rs4643071 PPFIBP2 AU synonymous SNV NM_001256569 exon12 c.C969T p.D323D 0.666534 0.5813 0.707711 0.6623 0.5539 0.946 P Uncertain 11_7663726_T->C 11 7663726 7663726 T C snp 2099.77 1/1 99 72 0 72 1.0 intronic rs4402283 PPFIBP2 AU NM_003621 exon17 c.92951+69T>C 0.795128 0.9683 Uncertain 11_7663779_C->T 11 7663779 7663779 C T snp 332.77 0/1 99 34 18 16 0.47 intronic rs3861066 PPFIBP2 AU NM_003621 exon17 c.92951+122C>T 0.237819 0.4593 Uncertain 11_7669775_G->C 11 7669775 7669775 G C snp 1373.77 0/1 99 123 63 60 0.49 intronic rs4758007 PPFIBP2 AU NM_003621 exon18 c.99062+7G>C 0.148762 0.126 0.158073 0.1363 0.1407 Uncertain 11_7670160_T->C 11 7670160 7670160 T C snp 2478.77 0/1 99 235 131 104 0.44 intronic rs4421737 PPFIBP2 AU NM_003621 exon19 c.99436+18T>C 0.235224 0.5169 0.154148 0.1736 0.4915 Uncertain 11_7670249_A->G 11 7670249 7670249 A G snp 2544.77 1/1 99 74 0 74 1.0 intronic rs4237757 PPFIBP2 AU NM_003621 exon19 c.99436+107A>G 0.741014 0.7411 Uncertain 11_7670305_C->A 11 7670305 7670305 C A snp 1144.77 0/1 99 59 20 39 0.66 intronic rs4758008 PPFIBP2 AU NM_003621 exon20 c.99671-72C>A 0.23103 0.5169 Uncertain 11_7670353_A->C 11 7670353 7670353 A C snp 1717.77 0/1 99 107 39 68 0.64 intronic rs4758009 PPFIBP2 AU NM_003621 exon20 c.99671-24A>C 0.479233 0.6081 0.490996 0.5638 0.5824 Uncertain 11_7670440_A->G 11 7670440 7670440 A G snp 5301.77 1/1 99 202 0 202 1.0 exonic rs4758209 PPFIBP2 AU nonsynonymous SNV NM_001256569 exon16 c.A1543G p.R515G 0.999401 1 0.998307 0.9997 1 1 T 0.012 P -0.953 T 0.0 T 0.0 T Pathogenic 11_7670752_T->G 11 7670752 7670752 T G snp 3035.77 0/1 99 246 119 127 0.52 intronic rs11607941 PPFIBP2 AU NM_003621 exon21 c.100056-10T>G 0.241214 0.1369 0.263044 0.2047 0.1650 Uncertain 11_7671974_C->T 11 7671974 7671974 C T snp 46.77 0/1 36 5 3 2 0.4 intronic rs11041497 PPFIBP2 AU NM_003621 exon22 c.101364-96C>T 0.231629 0.4871 Uncertain 11_7672272_G->A 11 7672272 7672272 G A snp 652.77 0/1 99 63 36 27 0.43 intronic rs3923491 PPFIBP2 AU NM_003621 exon22 c.101490+76G>A 0.687101 0.6091 Uncertain 11_7673015_G->A 11 7673015 7673015 G A snp 2381.77 0/1 99 204 100 104 0.51 exonic rs5864 PPFIBP2 AU synonymous SNV NM_001256569 exon19 c.G1947A p.E649E 0.660543 0.6012 0.689934 0.6609 0.5785 0.19 T 1.000 P -0.988 T Likely benign 11_7686493_G->C 11 7686493 7686493 G C snp 645.77 0/1 99 42 17 25 0.6 UTR3 rs11758 CYB5R2 AU 0.173522 0.12 Uncertain 11_7686596_G->A 11 7686596 7686596 G A snp 3788.77 1/1 99 147 0 147 1.0 UTR3 rs13172 CYB5R2 AU 0.768371 0.7708 0.779591 0.7697 0.7462 Uncertain 11_7686602_-->TGTT 11 7686602 7686602 - TGTT indel 4461.73 0/1 99 147 70 77 0.52 UTR3 rs16411 CYB5R2 AU 0.470248 0.6369 0.430580 0.4965 0.5724 Uncertain 11_7686674_T->C 11 7686674 7686674 T C snp 3159.77 1/1 99 114 0 114 1.0 exonic rs13854 CYB5R2 AU synonymous SNV NM_001302826 exon9 c.A762G p.L254L 0.773562 0.7728 0.796829 0.7725 0.7626 Uncertain 11_7687146_G->A 11 7687146 7687146 G A snp 2109.77 0/1 99 203 113 90 0.44 intronic rs67173996 CYB5R2 AU NM_001302827 exon1 c.39+369G>A 0.160942 0.504 0.1142 0.4591 0.01 T 0.0 P -1.009 T Uncertain 11_7687265_A->T 11 7687265 7687265 A T snp 152.77 0/1 99 25 19 6 0.24 intronic rs59114959 CYB5R2 AU NM_001302827 exon2 c.943-416A>T 0.232827 0.5218 Uncertain 11_7687305_C->T 11 7687305 7687305 C T snp 234.84 0/1 18 8 1 7 0.88 intronic rs12794507 CYB5R2 AU NM_001302827 exon2 c.943-376C>T 0.259984 0.1359 Uncertain 11_7687669_A->C 11 7687669 7687669 A C snp 853.77 1/1 63 30 0 30 1.0 intronic rs12796110 CYB5R2 AU NM_001302827 exon2 c.943-12A>C 0.765176 0.8165 0.774665 0.7667 0.7894 Uncertain 11_7687715_T->C 11 7687715 7687715 T C snp 1566.77 1/1 99 53 0 53 1.0 exonic rs12801394 CYB5R2 AU nonsynonymous SNV NM_001302826 exon8 c.A625G p.N209D 0.786342 0.8165 0.798215 0.7733 0.7900 0.07 T 0.0 P -0.928 T 0.0 T 0.001 T Pathogenic 11_7689633_A->C 11 7689633 7689633 A C snp 689.77 1/1 51 23 0 23 1.0 intronic rs10743030 CYB5R2 AU NM_001302827 exon4 c.2970-75A>C 0.996805 1 Uncertain 11_7690179_G->A 11 7690179 7690179 G A snp 460.77 0/1 99 37 21 16 0.43 intronic rs117510308 CYB5R2 AU NM_001302827 exon5 c.3697-256G>A 0.00139776 0.0069 Uncertain 11_7690685_T->C 11 7690685 7690685 T C snp 1351.77 1/1 99 40 0 40 1.0 intronic rs4631871 CYB5R2 AU NM_001302827 exon5 c.3827+120T>C 0.996605 1 Uncertain 11_7691019_G->A 11 7691019 7691019 G A snp 1077.77 0/1 99 81 37 44 0.54 intronic rs35206429 CYB5R2 AU NM_001302827 exon6 c.4224+57G>A 0.0680911 0.1042 Uncertain 11_7691104_A->G 11 7691104 7691104 A G snp 343.78 1/1 27 9 0 9 1.0 intronic rs7942361 CYB5R2 AU NM_001302827 exon6 c.4224+142A>G 0.731629 0.8135 Uncertain 11_7693853_-->CACACA 11 7693853 7693853 - CACACA indel 3552.73 ./1 99 98 2 96 0.98 intronic rs144823333 CYB5R2 AU NM_001302827 exon7 c.7016+99insCACACA 0.330072 0.37 Uncertain 11_7693854_CA->- 11 7693854 7693855 CA - indel 3552.73 ./1 99 98 2 96 0.98 intronic rs554088885 CYB5R2 AU NM_001302827 exon7 c.7016+100_7016+101delCA 0.190895 0.3175 Uncertain 11_7710729_C->G 11 7710729 7710729 C G snp 651.77 0/1 99 50 27 23 0.46 downstream rs4505055 OVCH2 AU 0.736022 0.7619 Uncertain 11_7710742_A->T 11 7710742 7710742 A T snp 787.77 0/1 99 67 38 29 0.43 downstream rs4365041 OVCH2 AU 0.736022 0.7619 Uncertain 11_7710750_G->A 11 7710750 7710750 G A snp 799.77 0/1 99 72 42 30 0.42 downstream rs4277100 OVCH2 AU 0.466653 0.5893 Uncertain 11_7710877_C->T 11 7710877 7710877 C T snp 1499.77 0/1 99 154 91 63 0.41 downstream rs4503519 OVCH2 AU 0.463858 0.5893 0.5076 0.5530 Uncertain 11_7712471_C->T 11 7712471 7712471 C T snp 2007.77 0/1 99 183 95 88 0.48 intronic rs4509745 OVCH2 AU NM_198185 exon2 c.1314-28C>T 0.479832 0.5903 0.523642 0.6307 0.6481 0.02 T 0.000 P Uncertain 11_7716549_C->G 11 7716549 7716549 C G snp 2471.77 1/1 99 76 0 76 1.0 intronic rs4287332 OVCH2 AU NM_198185 exon4 c.5234+130C>G 0.95627 1 Uncertain 11_7716855_T->A 11 7716855 7716855 T A snp 2112.77 1/1 99 72 0 72 1.0 exonic rs4528317 OVCH2 AU nonsynonymous SNV NM_198185 exon12 c.A1228T p.N410Y 0.95627 1 0.960020 0.9874 1 1 T 0.001 P -0.925 T 0.0 T 0.0 T Pathogenic 11_7717884_C->G 11 7717884 7717884 C G snp 446.77 0/1 99 40 22 18 0.45 intronic rs4075013 OVCH2 AU NM_198185 exon7 c.6826-127C>G 0.180911 0.2688 Uncertain 11_7718053_T->C 11 7718053 7718053 T C snp 2735.77 0/1 99 185 72 113 0.61 exonic rs375019275 OVCH2 AU nonsynonymous SNV NM_198185 exon10 c.A1100G p.H367R 0.000399361 0.001 0.000082 0.0004 0.0049 0.33 T 0.996 N -1.058 T 0.016 T 0.031 T Pathogenic 11_7720159_-->T 11 7720159 7720159 - T indel 314.73 0/1 99 24 14 10 0.42 intronic rs397951923 OVCH2 AU NM_198185 exon9 c.9111-137insT 0.386182 0.4544 Uncertain 11_7720426_C->A 11 7720426 7720426 C A snp 422.77 0/1 99 42 24 18 0.43 intronic rs4367936 OVCH2 AU NM_198185 exon9 c.9135+106C>A 0.533946 0.4653 Uncertain 11_7721743_C->A 11 7721743 7721743 C A snp 442.77 0/1 99 32 17 15 0.47 intronic rs12279973 OVCH2 AU NM_198185 exon10 c.10657-99C>A 0.52476 0.4623 Uncertain 11_7721870_G->A 11 7721870 7721870 G A snp 4158.77 1/1 99 159 0 159 1.0 exonic rs10839849 OVCH2 AU nonsynonymous SNV NM_198185 exon7 c.C874T p.P292S 0.844449 0.999 0.849902 0.9156 0.9999 0.7 T 0.002 P -0.958 T 0.013 T 0.018 T Pathogenic 11_7723172_A->- 11 7723172 7723172 A - indel 1777.73 0/1 99 100 53 47 0.47 intronic rs5789540 OVCH2 AU NM_198185 exon12 c.12077-90delA 0.661941 0.4692 Uncertain 11_7723683_G->A 11 7723683 7723683 G A snp 5569.77 1/1 99 205 0 205 1.0 intronic rs4373911 OVCH2 AU NM_198185 exon13 c.12518-20G>A 0.929912 1 0.936397 0.9813 1 Uncertain 11_7723842_C->A 11 7723842 7723842 C A snp 1170.77 0/1 99 94 48 46 0.49 exonic rs774500559 OVCH2 AU stopgain NM_198185 exon4 c.G325T p.E109X 0.0001 0.0014 0.85 T 1 A Pathogenic 11_7727706_T->G 11 7727706 7727706 T G snp 377.77 0/1 99 24 11 13 0.54 intronic rs12364824 OVCH2 AU NM_198185 exon16 c.16668-147T>G 0.184305 0.2629 Uncertain 11_7727886_C->T 11 7727886 7727886 C T snp 735.77 0/1 99 80 44 36 0.45 exonic rs7927138 OVCH2 AU nonsynonymous SNV NM_198185 exon1 c.G56A p.R19Q 0.403155 0.4157 0.328736 0.4716 0.4736 0.71 T 0.0 P -1.001 T 0.0 T 0.0 T Pathogenic 11_7750065_C->T 11 7750065 7750065 C T snp 1352.77 0/1 99 112 57 55 0.49 intergenic rs766767802 OVCH2 AU 0.0001 0 Uncertain 11_7750622_T->C 11 7750622 7750622 T C snp 2719.77 0/1 99 203 93 110 0.54 intergenic rs4237761 OVCH2 AU 0.222244 0.256 0.1865 0.2822 0 D 0.364 P -0.605 T Uncertain 11_7794545_C->A 11 7794545 7794545 C A snp 1408.77 0/1 99 158 93 65 0.41 intergenic rs1482784 OVCH2 AU 0.720248 0.6052 0.7677 0.6462 Uncertain 11_7794650_G->C 11 7794650 7794650 G C snp 1964.77 0/1 99 199 120 79 0.4 intergenic rs371799 OVCH2 AU 0.470447 0.4821 0.6251 0.4830 Uncertain 11_7794976_T->A 11 7794976 7794976 T A snp 3142.77 0/1 99 249 126 123 0.49 intergenic rs980145 OVCH2 AU 0.719848 0.6042 0.8052 0.7109 Uncertain 11_7817344_C->T 11 7817344 7817344 C T snp 34.77 0/1 63 7 5 2 0.29 downstream rs7931875 OR5P2 AU 0.236422 0.128 Uncertain 11_7817420_T->A 11 7817420 7817420 T A snp 440.77 0/1 99 46 27 19 0.41 downstream rs7949546 OR5P2 AU 0.236821 0.129 Uncertain 11_7817434_C->T 11 7817434 7817434 C T snp 474.77 0/1 99 49 29 20 0.41 downstream rs7931990 OR5P2 AU 0.236621 0.128 Uncertain 11_7817512_G->T 11 7817512 7817512 G T snp 750.77 0/1 99 81 48 33 0.41 downstream rs7931212 OR5P2 AU 0.236621 0.128 0.294655 0.2671 0.1352 Uncertain 11_7817538_T->C 11 7817538 7817538 T C snp 817.77 0/1 99 86 50 36 0.42 exonic rs7949771 OR5P2 AU nonsynonymous SNV NM_153444 exon1 c.A952G p.N318D 0.236621 0.128 0.295469 0.2633 0.1349 0.28 T 0.0 P -1.214 T 0.072 T 0.01 T Pathogenic 11_7817665_T->C 11 7817665 7817665 T C snp 1543.77 0/1 99 116 55 61 0.53 exonic rs72484720 OR5P2 AU synonymous SNV NM_153444 exon1 c.A825G p.T275T 0.236621 0.128 0.296563 0.2575 0.1345 Uncertain 11_7817852_C->G 11 7817852 7817852 C G snp 2709.77 0/1 99 250 136 114 0.46 exonic rs76615008 OR5P2 AU nonsynonymous SNV NM_153444 exon1 c.G638C p.C213S 0.236621 0.128 0.296655 0.2552 0.1326 1 T 0.000 P -0.903 T 0.0 T 0.0 T Pathogenic 11_7817856_C->T 11 7817856 7817856 C T snp 2731.77 0/1 99 250 136 114 0.46 exonic rs78460198 OR5P2 AU nonsynonymous SNV NM_153444 exon1 c.G634A p.V212I 0.236621 0.128 0.296702 0.2552 0.1324 1 T 0.0 P -0.974 T 0.008 T 0.021 T Pathogenic 11_7817959_G->A 11 7817959 7817959 G A snp 2818.77 0/1 99 249 135 114 0.46 exonic rs73406603 OR5P2 AU synonymous SNV NM_153444 exon1 c.C531T p.F177F 0.236621 0.128 0.296372 0.2570 0.1338 Uncertain 11_7818056_T->C 11 7818056 7818056 T C snp 3106.77 0/1 99 242 105 137 0.57 exonic rs73406604 OR5P2 AU nonsynonymous SNV NM_153444 exon1 c.A434G p.Y145C 0.236422 0.128 0.296824 0.2572 0.1343 0.02 T 0.0 P -0.991 T 0.023 T 0.169 T Pathogenic 11_7818151_G->A 11 7818151 7818151 G A snp 2107.77 0/1 99 191 104 87 0.46 exonic rs73406606 OR5P2 AU synonymous SNV NM_153444 exon1 c.C339T p.A113A 0.236621 0.128 0.296748 0.2572 0.1342 Uncertain 11_7818190_C->T 11 7818190 7818190 C T snp 1800.77 0/1 99 169 98 71 0.42 exonic rs73406607 OR5P2 AU synonymous SNV NM_153444 exon1 c.G300A p.A100A 0.236621 0.128 0.296592 0.2574 0.1346 Uncertain 11_7818313_C->T 11 7818313 7818313 C T snp 1845.77 0/1 99 168 90 78 0.46 exonic rs73406609 OR5P2 AU synonymous SNV NM_153444 exon1 c.G177A p.L59L 0.236621 0.128 0.295949 0.2571 0.1343 Uncertain 11_7818518_C->T 11 7818518 7818518 C T snp 743.77 0/1 99 61 31 30 0.49 upstream rs73406611 OR5P2 AU 0.236621 0.128 0.289849 0.2605 0.1323 Uncertain 11_7847208_T->C 11 7847208 7847208 T C snp 3744.77 0/1 99 249 104 145 0.58 exonic rs1482791 OR5P3 AU synonymous SNV NM_153445 exon1 c.A312G p.V104V 0.44349 0.4762 0.474622 0.5800 0.4861 Uncertain 11_7847466_A->G 11 7847466 7847466 A G snp 2368.77 1/1 99 95 2 93 0.98 exonic rs1482792 OR5P3 AU synonymous SNV NM_153445 exon1 c.T54C p.S18S 0.80651 0.6091 0.899536 0.9118 0.6232 Uncertain 11_7847472_C->T 11 7847472 7847472 C T snp 989.77 0/1 99 93 48 45 0.48 exonic rs1482793 OR5P3 AU synonymous SNV NM_153445 exon1 c.G48A p.G16G 0.44389 0.4762 0.465022 0.5884 0.4819 Uncertain 11_7847523_T->A 11 7847523 7847523 T A snp 641.77 0/1 99 57 30 27 0.47 upstream rs1482794 OR5P3 AU 0.444688 0.4762 0.552249 0.5861 0.4840 Uncertain 11_7870670_A->G 11 7870670 7870670 A G snp 1423.77 0/1 99 114 52 62 0.54 ncRNA_exonic rs61759825 OR5E1P AU 0.167332 0.1131 0.2277 0.1625 Uncertain 11_7870760_G->A 11 7870760 7870760 G A snp 2165.77 0/1 99 155 64 91 0.59 ncRNA_exonic rs17221305 OR5E1P AU 0.171725 0.1131 0.2094 0.1101 Uncertain 11_7871011_A->G 11 7871011 7871011 A G snp 6811.77 1/1 99 245 0 245 1.0 ncRNA_exonic rs4758022 OR5E1P AU 0.725639 0.6131 0.8962 0.6351 Uncertain 11_7949134_T->A 11 7949134 7949134 T A snp 107.77 0/1 99 12 8 4 0.33 downstream rs12273639 OR10A6 AU 0.332268 0.2698 Uncertain 11_7949192_G->A 11 7949192 7949192 G A snp 322.77 0/1 99 32 17 15 0.47 downstream rs11041669 OR10A6 AU 0.332468 0.2698 Uncertain 11_7949350_A->G 11 7949350 7949350 A G snp 4493.77 1/1 99 180 0 180 1.0 exonic rs4758258 OR10A6 AU nonsynonymous SNV NM_001004461 exon1 c.T860C p.L287P 0.78774 0.7619 0.765507 0.7920 0.7989 1 T 0.999 P -0.982 T 0.0 T 0.0 T Pathogenic 11_7949791_A->C 11 7949791 7949791 A C snp 1704.77 0/1 99 128 56 72 0.56 exonic rs7933807 OR10A6 AU nonsynonymous SNV NM_001004461 exon1 c.T419G p.V140G 0.413139 0.494 0.377388 0.4174 0.5186 0.03 T 0.000 P -0.945 T 0.979 D 0.843 D Pathogenic 11_7949860_G->A 11 7949860 7949860 G A snp 3193.69 0/1 99 250 121 129 0.52 exonic rs7928451 OR10A6 AU nonsynonymous SNV NM_001004461 exon1 c.C350T p.A117V 0.394369 0.494 0.360705 0.4113 0.5177 1 T 0.008 P -0.989 T 0.006 T 0.01 T Pathogenic 11_7950024_A->G 11 7950024 7950024 A G snp 2911.77 0/1 99 232 115 117 0.5 exonic rs12272735 OR10A6 AU synonymous SNV NM_001004461 exon1 c.T186C p.F62F 0.333267 0.2698 0.345544 0.3647 0.2812 Uncertain 11_7960045_G->A 11 7960045 7960045 G A snp 1851.77 1/1 99 54 0 54 1.0 downstream rs6578915 OR10A3 AU 0.983626 1 Uncertain 11_7961130_C->T 11 7961130 7961130 C T snp 903.77 0/1 99 83 42 41 0.49 upstream rs4758259 OR10A3 AU 0.320487 0.2639 Uncertain 11_7961146_A->G 11 7961146 7961146 A G snp 747.77 0/1 99 58 27 31 0.53 upstream rs9787855 OR10A3 AU 0.418331 0.498 Uncertain 11_8009420_G->A 11 8009420 8009420 G A snp 507.77 1/1 39 15 0 15 1.0 intronic rs12278319 EIF3F AU NM_003754 exon1 c.364+157G>A 0.680911 0.8512 Uncertain 11_8014479_C->T 11 8014479 8014479 C T snp 2412.77 1/1 99 77 0 77 1.0 exonic rs4758267 EIF3F AU synonymous SNV NM_003754 exon4 c.C561T p.H187H 0.688299 0.8353 0.655687 0.7147 0.8357 Uncertain 11_8060654_A->G 11 8060654 8060654 A G snp 54.74 1/1 6 3 0 3 1.0 intronic rs17847547 TUB AR NM_003320 exon1 c.155+79A>G 0.431709 0.6002 Uncertain 11_8061231_G->A 11 8061231 8061231 G A snp 463.77 0/1 99 28 8 20 0.71 exonic rs17847539 TUB AR synonymous SNV NM_003320 exon2 c.G195A p.E65E 0.122404 0.2153 0.063097 0.1901 0.3116 Uncertain 11_8115699_T->C 11 8115699 8115699 T C snp 4097.77 1/1 99 154 0 154 1.0 exonic rs4758289 TUB AR synonymous SNV NM_003320 exon5 c.T525C p.G175G 0.398762 0.5258 0.314992 0.3582 0.5391 Uncertain 11_8115762_C->G 11 8115762 8115762 C G snp 2478.77 1/1 99 85 0 85 1.0 intronic rs7396690 TUB AR NM_177972 exon4 c.12679+26C>G 0.773163 0.8016 0.791057 0.8878 0.7785 Uncertain 11_8117228_A->G 11 8117228 8117228 A G snp 4236.77 1/1 99 156 0 156 1.0 intronic rs11041739 TUB AR NM_177972 exon5 c.14155+16A>G 0.994609 1 0.997294 0.9988 1 Uncertain 11_8118185_C->G 11 8118185 8118185 C G snp 3020.77 1/1 99 113 0 113 1.0 intronic rs10160258 TUB AR NM_177972 exon6 c.15174-46C>G 0.957268 1 0.964599 0.9836 1 Uncertain 11_8118200_C->A 11 8118200 8118200 C A snp 3432.77 1/1 99 123 0 123 1.0 intronic rs7931842 TUB AR NM_177972 exon6 c.15174-31C>A 0.996006 1 0.997922 0.9993 1 Uncertain 11_8118472_T->C 11 8118472 8118472 T C snp 102.77 0/1 99 12 8 4 0.33 intronic rs2242503 TUB AR NM_177972 exon6 c.15296+119T>C 0.621006 0.8442 Uncertain 11_8119063_A->G 11 8119063 8119063 A G snp 1046.77 1/1 75 36 0 36 1.0 intronic rs7950355 TUB AR NM_177972 exon7 c.15915+91A>G 0.976637 1 Uncertain 11_8122234_G->A 11 8122234 8122234 G A snp 1312.77 1/1 93 46 0 46 1.0 intronic rs7394561 TUB AR NM_177972 exon10 c.19091+86G>A 0.837061 0.999 Uncertain 11_8122242_-->G 11 8122242 8122242 - G indel 469.73 0/1 99 48 26 22 0.46 intronic rs138755629 TUB AR NM_177972 exon10 c.19091+94insG 0.390176 0.3522 Uncertain 11_8123006_TCTG->- 11 8123006 8123009 TCTG - indel 11997.7 1/1 99 191 0 191 1.0 intronic rs398054959 TUB AR NM_177972 exon12 c.19975-26_19975-23delTCTG 0.244409 0.2857 0.198962 0.2143 0.3033 Uncertain 11_8158741_T->A 11 8158741 8158741 T A snp 223.77 0/1 99 13 6 7 0.54 intronic rs151267954 RIC3 AU NM_024557 exon3 c.26680-183T>A 0.00359425 0.0139 Uncertain 11_8159892_G->T 11 8159892 8159892 G T snp 4039.77 1/1 99 152 0 152 1.0 exonic rs10839976 RIC3 AU synonymous SNV NM_001206671 exon3 c.C354A p.L118L 0.303514 0.4196 0.245960 0.2691 0.4508 Uncertain 11_8161878_C->T 11 8161878 8161878 C T snp 162.9 1/1 15 5 0 5 1.0 intronic rs6578932 RIC3 AU NM_024557 exon5 c.29496+138C>T 0.572684 0.5238 Uncertain 11_8174966_G->A 11 8174966 8174966 G A snp 1780.77 1/1 99 67 0 67 1.0 intronic rs10743052 RIC3 AU NM_024557 exon5 c.29496+13226G>A 0.528954 0.5238 0.4755 0.5075 Uncertain 11_8246343_G->A 11 8246343 8246343 G A snp 530.77 0/1 99 31 11 20 0.65 intronic rs3816490 LMO1 AU NM_001270428 exon1 c.106+75G>A 0.232228 0.3304 Uncertain 11_8251921_G->C 11 8251921 8251921 G C snp 1896.77 0/1 99 160 82 78 0.49 exonic rs3750952 LMO1 AU synonymous SNV NM_001270428 exon2 c.C153G p.A51A 0.333866 0.2857 0.359243 0.4466 0.3012 Uncertain 11_8284838_A->G 11 8284838 8284838 A G snp 1707.77 1/1 99 69 0 69 1.0 intronic rs204931 LMO1 AU NM_002315 exon4 c.38722-46A>G 0.975439 1 0.974588 0.9923 0.9999 Uncertain 11_8284981_A->C 11 8284981 8284981 A C snp 1909.77 1/1 99 77 0 77 1.0 UTR5 rs176083 LMO1 AU 0.986422 1 0.985014 Uncertain 11_8284995_T->C 11 8284995 8284995 T C snp 1875.77 1/1 99 74 0 74 1.0 UTR5 rs204929 LMO1 AU 0.866014 1 Uncertain 11_8285124_A->C 11 8285124 8285124 A C snp 404.77 1/1 30 17 0 17 1.0 UTR5 rs2071458 LMO1 AU 0.66274 0.7649 Uncertain 11_8496516_G->A 11 8496516 8496516 G A snp 918.77 1/1 69 28 0 28 1.0 UTR5 rs2289923 STK33 AU 0.546725 0.5149 Uncertain 11_8639325_G->A 11 8639325 8639325 G A snp 1757.77 1/1 99 56 0 56 1.0 UTR3 rs4929924 TRIM66 AU 0.511382 0.4038 Uncertain 11_8641501_C->A 11 8641501 8641501 C A snp 391.77 1/1 30 10 0 10 1.0 intronic rs7946508 TRIM66 AU NM_014818 exon4 c.2106-95C>A 0.990615 1 Uncertain 11_8641882_G->A 11 8641882 8641882 G A snp 1160.77 1/1 87 29 0 29 1.0 intronic rs7943945 TRIM66 AU NM_014818 exon5 c.2502-110G>A 0.990415 1 Uncertain 11_8642218_C->T 11 8642218 8642218 C T snp 708.77 1/1 54 19 0 19 1.0 intronic rs7950166 TRIM66 AU NM_014818 exon5 c.2629+99C>T 0.516773 0.4038 Uncertain 11_8644530_T->G 11 8644530 8644530 T G snp 5480.77 1/1 99 201 4 197 0.98 intronic rs4929948 TRIM66 AU NM_014818 exon8 c.4933+107T>G 0.518371 0.4038 Uncertain 11_8644563_CATA->- 11 8644563 8644566 CATA - indel 7497.73 1/1 99 137 2 135 0.99 intronic rs34386713 TRIM66 AU NM_014818 exon8 c.4933+140_4933+143delCATA 0.518371 0.4038 Uncertain 11_8646237_G->T 11 8646237 8646237 G T snp 3472.77 1/1 99 123 0 123 1.0 intronic rs12803166 TRIM66 AU NM_014818 exon10 c.6765-18G>T 0.521166 0.4038 0.613228 0.6173 0.4091 Uncertain 11_8662090_T->C 11 8662090 8662090 T C snp 158.9 1/1 15 5 0 5 1.0 exonic rs11042022 TRIM66 AU nonsynonymous SNV NM_014818 exon9 c.A1397G p.H466R 0.766174 0.7202 0.9012 0.7725 0.37 T 0.0 P -1.091 T Pathogenic 11_8662516_T->C 11 8662516 8662516 T C snp 1828.77 1/1 99 58 0 58 1.0 exonic rs11042023 TRIM66 AU nonsynonymous SNV NM_014818 exon9 c.A971G p.H324R 0.52516 0.4028 0.619360 0.5939 0.3981 0.28 T 0.503 P -0.979 T 0.999 D 0.994 D Pathogenic 11_8664454_A->G 11 8664454 8664454 A G snp 222.84 1/1 18 6 0 6 1.0 intronic rs4503528 TRIM66 AU NM_014818 exon13 c.25065-101A>G 0.578075 0.4028 Uncertain 11_8664869_C->T 11 8664869 8664869 C T snp 511.77 1/1 39 13 0 13 1.0 intronic rs10769937 TRIM66 AU NM_014818 exon13 c.25183+196C>T 0.841254 0.7669 Uncertain 11_8669437_A->G 11 8669437 8669437 A G snp 885.77 1/1 66 25 0 25 1.0 intronic rs10840100 TRIM66 AU NM_014818 exon16 c.30026-79A>G 0.523363 0.4038 Uncertain 11_8670172_T->C 11 8670172 8670172 T C snp 952.77 1/1 69 31 0 31 1.0 intronic rs7950801 TRIM66 AU NM_014818 exon17 c.30605+77T>C 0.941094 1 Uncertain 11_8671369_C->T 11 8671369 8671369 C T snp 791.77 0/1 99 83 45 38 0.46 exonic rs10840101 TRIM66 AU synonymous SNV NM_014818 exon3 c.G75A p.L25L 0.148163 0.1329 0.224266 0.2193 0.1149 Uncertain 11_8693405_G->T 11 8693405 8693405 G T snp 1714.77 0/1 99 167 94 73 0.44 intergenic rs11517718 TRIM66 AU 0.148163 0.1329 0.2178 0.1162 Uncertain 11_8704711_A->C 11 8704711 8704711 A C snp 3094.77 0/1 99 250 139 111 0.44 intronic rs3365 RPL27A AU NM_000990 exon2 c.388-37A>C 0.0415335 0.001 0.098738 0.0897 0.0016 Uncertain 11_8704965_C->T 11 8704965 8704965 C T snp 368.77 0/1 99 26 12 14 0.54 intronic rs2073684 RPL27A AU NM_000990 exon2 c.452+153C>T 0.201677 0.1875 Uncertain 11_8706406_T->G 11 8706406 8706406 T G snp 2088.77 0/1 99 195 111 84 0.43 exonic rs4670 RPL27A AU synonymous SNV NM_000990 exon4 c.T285G p.T95T 0.134984 0.0635 0.127751 0.1069 0.0893 Uncertain 11_8706639_C->T 11 8706639 8706639 C T snp 93.77 0/1 99 15 11 4 0.27 intronic rs77786762 RPL27A AU NM_000990 exon4 c.2079+200C>T 0.129593 0.0625 Uncertain 11_8716968_T->A 11 8716968 8716968 T A snp 3147.77 0/1 99 238 100 138 0.58 intronic rs2270955 ST5 AU NM_005418 exon2 c.1367-41T>A 0.159145 0.1419 0.136602 0.1164 0.1494 Uncertain 11_8717003_C->T 11 8717003 8717003 C T snp 2306.77 0/1 99 249 144 105 0.42 intronic rs2270956 ST5 AU NM_005418 exon2 c.1367-6C>T 0.336462 0.4276 0.364784 0.4271 0.4202 Uncertain 11_8719615_C->G 11 8719615 8719615 C G snp 895.77 1/1 66 29 0 29 1.0 intronic rs10840113 ST5 AU NM_005418 exon4 c.3541+432C>G 0.629193 0.62 Uncertain 11_8721613_G->T 11 8721613 8721613 G T snp 329.77 0/1 99 18 8 10 0.56 intronic rs6483727 ST5 AU NM_005418 exon6 c.5295+676G>T 0.0814696 0.0685 Uncertain 11_8721616_G->A 11 8721616 8721616 G A snp 324.77 0/1 99 17 7 10 0.59 intronic rs6483729 ST5 AU NM_005418 exon6 c.5295+679G>A 0.0794728 0.0655 Uncertain 11_8724345_-->G 11 8724345 8724345 - G indel 507.73 1/1 39 13 0 13 1.0 intronic rs3833780 ST5 AU NM_005418 exon7 c.8625+78insG 0.609824 0.5536 Uncertain 11_8732301_CACA->- 11 8732301 8732304 CACA - indel 708.73 ./1 99 17 1 16 0.94 intronic rs398044979 ST5 AU NM_005418 exon10 c.16749-90_16749-87delCACA Uncertain 11_8732300_-->CACA 11 8732300 8732300 - CACA indel 708.73 ./1 99 17 1 16 0.94 intronic ST5 AU NM_005418 exon10 c.16749-91insCACA Uncertain 11_8735662_G->A 11 8735662 8735662 G A snp 2625.77 1/1 99 97 0 97 1.0 intronic rs931756 ST5 AU NM_005418 exon13 c.19947+73G>A 0.585264 0.6409 0.583881 Uncertain 11_8736046_C->T 11 8736046 8736046 C T snp 670.77 1/1 51 19 0 19 1.0 intronic rs931757 ST5 AU NM_005418 exon14 c.20514-110C>T 0.973243 1 Uncertain 11_8739639_-->G 11 8739639 8739639 - G indel 220.8 1/1 18 6 0 6 1.0 intronic rs369119901 ST5 AU NM_005418 exon16 c.23797+200insG Uncertain 11_8739821_A->G 11 8739821 8739821 A G snp 761.77 0/1 99 49 20 29 0.59 intronic rs56797102 ST5 AU NM_005418 exon16 c.23797+382A>G 0.0922524 0.1964 Uncertain 11_8751889_C->G 11 8751889 8751889 C G snp 1879.77 0/1 99 128 55 73 0.57 exonic rs3794153 ST5 AU nonsynonymous SNV NM_005418 exon6 c.G948C p.K316N 0.280152 0.3472 0.321021 0.4004 0.3693 0.01 T 1.000 P -0.938 T 0.998 D 0.852 D Pathogenic 11_8788168_A->T 11 8788168 8788168 A T snp 606.77 0/1 99 54 33 21 0.39 intronic rs10743089 ST5 AU NM_005418 exon19 c.56630+15896A>T 0.55631 0.6409 0.5940 0.7463 Uncertain 11_8788225_A->C 11 8788225 8788225 A C snp 849.77 0/1 99 90 51 39 0.43 intronic rs10734637 ST5 AU NM_005418 exon19 c.56630+15953A>C 0.616813 0.6429 0.6366 0.7424 Uncertain 11_8933789_G->A 11 8933789 8933789 G A snp 44.74 1/1 6 2 0 2 1.0 intronic rs2653579 AKIP1 AU NM_020642 exon3 c.1003-210G>A 0.894968 1 Uncertain 11_8933853_T->G 11 8933853 8933853 T G snp 987.77 1/1 75 28 0 28 1.0 intronic rs2742519 AKIP1 AU NM_020642 exon3 c.1003-146T>G 0.58147 0.7788 Uncertain 11_8934101_A->G 11 8934101 8934101 A G snp 6448.77 1/1 99 221 0 221 1.0 intronic rs2742518 AKIP1 AU NM_020642 exon3 c.1084+21A>G 0.894569 0.998 0.880483 0.9676 0.9991 Uncertain 11_8938787_A->G 11 8938787 8938787 A G snp 195.77 0/1 99 12 4 8 0.67 intronic rs2016942 AKIP1 AU NM_020642 exon5 c.5837-46A>G 0.28135 0.3363 0.322380 0.3944 0.3536 Uncertain 11_8942999_G->A 11 8942999 8942999 G A snp 7315.77 1/1 99 249 1 248 1.0 exonic rs2568023 C11orf16 AU nonsynonymous SNV NM_020643 exon6 c.C1268T p.A423V 0.921725 1 0.918039 0.9769 0.9998 1 T 0.0 P -0.933 T 0.0 T 0.0 T Pathogenic 11_8946950_G->T 11 8946950 8946950 G T snp 679.77 0/1 99 50 27 23 0.46 intronic rs3751068 C11orf16 AU NM_020643 exon3 c.4147-59G>T 0.561901 0.7093 Uncertain 11_8947021_A->G 11 8947021 8947021 A G snp 5062.77 1/1 99 193 0 193 1.0 exonic rs2653588 C11orf16 AU nonsynonymous SNV NM_020643 exon5 c.T1193C p.L398P 0.889776 1 0.876097 0.9666 0.9998 1 T 0.0 P -0.986 T 0.0 T 0.0 T Pathogenic 11_8947283_G->C 11 8947283 8947283 G C snp 1989.77 0/1 99 188 104 84 0.45 exonic rs3751066 C11orf16 AU nonsynonymous SNV NM_020643 exon5 c.C931G p.P311A 0.530751 0.7093 0.519701 0.5895 0.6815 1 T 0.0 P -0.871 T 0.759 T 0.368 P Pathogenic 11_8948615_G->A 11 8948615 8948615 G A snp 1050.77 0/1 99 64 27 37 0.58 exonic rs2568076 C11orf16 AU nonsynonymous SNV NM_020643 exon4 c.C431T p.P144L 0.0457268 0.0675 0.017624 0.0160 0.0936 0.06 T 0.000 P -1.012 T 0.0 T 0.001 T Pathogenic 11_8948680_A->T 11 8948680 8948680 A T snp 656.77 0/1 99 80 48 32 0.4 exonic rs3751065 C11orf16 AU synonymous SNV NM_020643 exon4 c.T366A p.P122P 0.527556 0.7093 0.514622 0.5884 0.6806 Uncertain 11_8959020_G->A 11 8959020 8959020 G A snp 40.77 0/1 69 5 3 2 0.4 downstream rs3751063 ASCL3 AU 0.541534 0.7103 Uncertain 11_8959511_T->G 11 8959511 8959511 T G snp 891.77 0/1 99 60 23 37 0.62 exonic rs4910179 ASCL3 AU synonymous SNV NM_020646 exon2 c.A198C p.G66G 0.660743 0.9306 0.596829 0.7058 0.9054 Uncertain 11_8959545_C->A 11 8959545 8959545 C A snp 834.77 0/1 99 62 25 37 0.6 exonic rs4909951 ASCL3 AU nonsynonymous SNV NM_020646 exon2 c.G164T p.R55L 0.545727 0.7113 0.546875 0.6165 0.6812 0.89 T 0.0 P -0.940 T 0.0 T 0.0 T Pathogenic 11_8970083_C->A 11 8970083 8970083 C A snp 915.77 1/1 69 32 0 32 1.0 intronic rs2653604 TMEM9B AU NM_001286095 exon1 c.156+61C>A 0.608626 0.7778 Uncertain 11_8977691_C->G 11 8977691 8977691 C G snp 1659.77 1/1 99 62 0 62 1.0 intronic rs2742488 TMEM9B AU NM_001286095 exon3 c.7870-45C>G 0.609026 0.7788 0.571429 0.6174 0.7794 Uncertain 11_8977707_G->A 11 8977707 8977707 G A snp 2069.77 1/1 99 76 0 76 1.0 intronic rs2568069 TMEM9B AU NM_001286095 exon3 c.7870-29G>A 0.609225 0.7788 0.571418 0.6221 0.7819 Uncertain 11_8977830_A->G 11 8977830 8977830 A G snp 1393.77 0/1 99 141 75 66 0.47 exonic rs2568068 TMEM9B AU synonymous SNV NM_020644 exon3 c.T213C p.V71V 0.334864 0.4494 0.265969 0.2564 0.4358 Uncertain 11_8983547_A->G 11 8983547 8983547 A G snp 360.77 0/1 99 23 7 16 0.7 intronic rs2163626 TMEM9B AU NM_001286095 exon4 c.13772-91A>G 0.327875 0.4494 Uncertain 11_8985916_-->GGCTCA 11 8985916 8985916 - GGCTCA indel 626.73 0/1 99 37 12 25 0.68 UTR5 rs3833778 TMEM9B AU 0.29393 0.3879 Uncertain 11_9001270_AC->- 11 9001270 9001271 AC - indel 367.73 0/1 99 22 13 9 0.41 downstream rs141191597 NRIP3 AU 0.0507188 0.0694 Uncertain 11_9001290_A->- 11 9001290 9001290 A - indel 175.73 0/1 99 32 15 17 0.53 downstream rs571322915 NRIP3 AU Uncertain 11_9001311_-->TACT 11 9001311 9001311 - TACT indel 704.73 0/1 99 39 25 14 0.36 downstream rs148297137 NRIP3 AU 0.0537141 0.0675 Uncertain 11_9001472_G->T 11 9001472 9001472 G T snp 56.74 1/1 6 2 0 2 1.0 downstream rs2653610 NRIP3 AU 0.935703 0.999 Uncertain 11_9005036_T->A 11 9005036 9005036 T A snp 2650.77 1/1 99 98 0 98 1.0 UTR3 rs2568046 NRIP3 AU 0.933906 1 0.932764 Uncertain 11_9051224_T->C 11 9051224 9051224 T C snp 44.74 1/1 6 2 0 2 1.0 intronic rs1960180 SCUBE2 AU NM_020974 exon5 c.8839-206T>C 0.680312 0.7946 Uncertain 11_9051385_C->A 11 9051385 9051385 C A snp 2193.77 1/1 99 74 0 74 1.0 intronic rs7479998 SCUBE2 AU NM_020974 exon5 c.8839-45C>A 0.951278 1 0.955133 0.9861 0.9999 Uncertain 11_9052170_G->A 11 9052170 9052170 G A snp 113.77 0/1 99 12 6 6 0.5 intronic rs10769983 SCUBE2 AU NM_020974 exon6 c.9713-134G>A 0.154353 0.0744 Uncertain 11_9052423_A->C 11 9052423 9052423 A C snp 4386.77 1/1 99 160 0 160 1.0 exonic rs7395988 SCUBE2 AU nonsynonymous SNV NM_020974 exon17 c.T2052G p.H684Q 0.997005 1 0.997614 0.9993 1 1 T 0.000 P -0.933 T 0.0 T 0.0 T Pathogenic 11_9068716_G->A 11 9068716 9068716 G A snp 40.77 0/1 33 3 1 2 0.67 intronic rs6486112 SCUBE2 AU NM_020974 exon7 c.26311-186G>A 0.571685 0.6141 Uncertain 11_9072140_C->T 11 9072140 9072140 C T snp 1060.77 0/1 99 84 41 43 0.51 intronic rs3751052 SCUBE2 AU NM_020974 exon9 c.29561-12C>T 0.616613 0.6329 0.604741 0.5939 0.6027 Uncertain 11_9077652_A->G 11 9077652 9077652 A G snp 95.28 1/1 9 4 0 4 1.0 intronic rs7396115 SCUBE2 AU NM_020974 exon13 c.34865+196A>G 0.904952 0.996 Uncertain 11_9081926_C->T 11 9081926 9081926 C T snp 629.77 0/1 99 52 25 27 0.52 intronic rs7112378 SCUBE2 AU NM_020974 exon15 c.39363-28C>T 0.596645 0.6984 0.575804 0.6764 0.6886 Uncertain 11_9087533_A->G 11 9087533 9087533 A G snp 4706.77 1/1 99 170 0 170 1.0 splicing rs2003906 SCUBE2 AU NM_020974 exon16 c.44936+6A>G 0.342053 0.4137 0.269201 0.3062 0.4805 Pathogenic 11_9090875_T->C 11 9090875 9090875 T C snp 2939.77 1/1 99 91 0 91 1.0 intronic rs59381163 SCUBE2 AU NM_020974 exon18 c.48325-41T>C 0.0503195 0.119 0.020628 0.0282 0.1093 Uncertain 11_9112020_T->A 11 9112020 9112020 T A snp 258.8 1/1 21 7 0 7 1.0 intronic rs7484187 SCUBE2 AU NM_020974 exon21 c.68785+644T>A 0.651358 0.8423 Uncertain 11_9167399_T->C 11 9167399 9167399 T C snp 1421.77 1/1 99 50 0 50 1.0 intronic rs10732517 DENND5A AU NM_001243254 exon7 c.6041+37T>C 0.992612 1 0.993382 0.9983 1 Uncertain 11_9171775_A->G 11 9171775 9171775 A G snp 830.77 0/1 99 78 42 36 0.46 intronic rs7123970 DENND5A AU NM_001243254 exon9 c.10435+19A>G 0.379393 0.128 0.425735 0.3392 0.1216 Uncertain 11_9172432_A->G 11 9172432 9172432 A G snp 68.77 0/1 97 10 7 3 0.3 intronic rs10769995 DENND5A AU NM_001243254 exon10 c.10990+121A>G 0.379393 0.128 Uncertain 11_9182219_A->G 11 9182219 9182219 A G snp 1482.77 0/1 99 140 74 66 0.47 intronic rs2291839 DENND5A AU NM_001243254 exon12 c.20938-40A>G 0.130391 0.1161 0.103894 0.1222 0.1158 Uncertain 11_9198276_T->C 11 9198276 9198276 T C snp 1725.77 0/1 99 124 58 66 0.53 intronic rs7394878 DENND5A AU NM_001243254 exon16 c.38357-1402T>C 0.405351 0.121 Uncertain 11_9225326_T->C 11 9225326 9225326 T C snp 1715.77 0/1 99 144 74 70 0.49 exonic rs74359608 DENND5A AU nonsynonymous SNV NM_015213 exon4 c.A830G p.N277S 0.00958466 0.0446 0.000231 0.0040 0.0489 1 T 1 D -1.003 T 0.0 T 0.003 T Pathogenic 11_9225486_C->G 11 9225486 9225486 C G snp 1213.77 0/1 99 109 60 49 0.45 exonic rs952374 DENND5A AU nonsynonymous SNV NM_015213 exon4 c.G670C p.E224Q 0.3752 0.4573 0.260120 0.3477 0.4918 0.55 T 1.0 P -0.925 T 0.046 T 0.024 T Pathogenic 11_9228785_G->A 11 9228785 9228785 G A snp 634.77 0/1 99 54 24 30 0.56 intronic rs7396439 DENND5A AU NM_001243254 exon22 c.67786-322G>A 0.642372 0.4613 0.6953 0.5809 Uncertain 11_9316730_T->C 11 9316730 9316730 T C snp 141.03 1/1 12 4 0 4 1.0 UTR3 rs4396289 TMEM41B AU 0.25 0.3601 Uncertain 11_9316937_G->A 11 9316937 9316937 G A snp 1082.77 1/1 44 39 1 38 0.97 splicing rs4601780 TMEM41B AU NM_015012 exon5 c.11964+3G>A 0.946286 0.999 0.940777 0.9844 1 Pathogenic 11_9321399_A->G 11 9321399 9321399 A G snp 144.03 1/1 12 6 0 6 1.0 intronic rs10743101 TMEM41B AU NM_015012 exon6 c.16278+151A>G 0.887181 1 Uncertain 11_9406349_T->C 11 9406349 9406349 T C snp 3872.77 1/1 99 142 0 142 1.0 exonic rs4606477 IPO7 AU synonymous SNV NM_006391 exon1 c.T39C p.T13T 0.982228 1 0.982955 0.9955 0.9999 Uncertain 11_9431760_T->C 11 9431760 9431760 T C snp 135.77 0/1 99 11 6 5 0.45 intronic rs148463796 IPO7 AU NM_006391 exon4 c.25323+127T>C 0.00339457 0.0159 Uncertain 11_9450377_T->G 11 9450377 9450377 T G snp 1819.77 0/1 99 139 68 71 0.51 ncRNA_exonic rs2290423 SNORA23 AU 0.452676 0.2927 0.509615 0.4749 0.2789 Uncertain 11_9457723_AG->- 11 9457723 9457724 AG - indel 322.73 0/1 99 15 7 8 0.53 intronic rs35718097 IPO7 AU NM_006391 exon20 c.51507-94_51507-93delAG 0.307708 0.2927 Uncertain 11_9459269_G->T 11 9459269 9459269 G T snp 191.77 0/1 99 13 6 7 0.54 intronic rs76296331 IPO7 AU NM_006391 exon21 c.52990-31G>T 0.0103834 0.0516 0.000077 0.0053 0.0704 Uncertain 11_9495961_A->T 11 9495961 9495961 A T snp 1043.77 0/1 99 81 49 32 0.4 intronic rs2278900 ZNF143 AU NM_003442 exon5 c.3241-135A>T 0.326278 0.3175 Uncertain 11_9522567_T->C 11 9522567 9522567 T C snp 499.77 0/1 99 30 12 18 0.6 intronic rs2290425 ZNF143 AU NM_003442 exon11 c.29782-70T>C 0.363618 0.3194 Uncertain 11_9537904_G->C 11 9537904 9537904 G C snp 1730.77 1/1 99 63 0 63 1.0 exonic rs10743108 ZNF143 AU nonsynonymous SNV NM_003442 exon14 c.G1681C p.E561Q 0.901158 0.7788 0.977906 0.9261 0.7481 0.52 T 0.000 P -0.979 T 0.0 T 0.0 T ID=CM152559;DIS=Psoriasis, association with;TAG=DP;PUB=25854761 DP Pathogenic 11_9537978_A->G 11 9537978 9537978 A G snp 352.77 0/1 99 24 8 16 0.67 intronic rs12276181 ZNF143 AU NM_003442 exon14 c.45054+69A>G 0.271166 0.4752 Uncertain 11_9595732_C->G 11 9595732 9595732 C G snp 424.77 0/1 40 16 2 14 0.88 exonic rs11042428 WEE1 AU synonymous SNV NM_003390 exon1 c.C252G p.G84G 0.49401 0.3472 0.6852 . Uncertain 11_9603236_C->T 11 9603236 9603236 C T snp 639.77 0/1 99 71 40 31 0.44 intronic rs4370932 WEE1 AU NM_003390 exon6 c.7745+11C>T 0.435104 0.4246 0.401617 0.4072 0.4623 Uncertain 11_9715628_C->T 11 9715628 9715628 C T snp 56.74 1/1 6 2 0 2 1.0 intronic rs360049 SWAP70 AU NM_001297714 exon2 c.29966-64C>T 0.697284 0.6935 Uncertain 11_9715646_T->C 11 9715646 9715646 T C snp 220.84 1/1 18 6 0 6 1.0 intronic rs3763865 SWAP70 AU NM_001297714 exon2 c.29966-46T>C 0.551917 0.5417 0.542725 0.6370 0.5294 Uncertain 11_9875353_G->T 11 9875353 9875353 G T snp 1529.77 1/1 86 46 1 45 0.98 ncRNA_intronic rs375686 LOC101928008 AU 0.988019 1 Uncertain 11_10019879_G->A 11 10019879 10019879 G A snp 1068.77 0/1 99 98 50 48 0.49 exonic rs16907355 SBF2 AR synonymous SNV NM_030962 exon9 c.C909T p.P303P 0.0636981 0.0238 0.058661 0.0760 0.0257 CLINSIG=non-pathogenic;CLNDBN=not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000127863.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Uncertain 11_10215598_C->T 11 10215598 10215598 C T snp 521.77 0/1 99 36 17 19 0.53 intronic rs4910097 SBF2 AR NM_030962 exon39 c.413570+64C>T 0.360423 0.4911 Uncertain 11_10472493_C->- 11 10472493 10472493 C - indel 2240.73 1/1 99 56 0 56 1.0 intergenic rs35417007 CAND1.11 AU 0.529952 0.7609 0.556106 Uncertain 11_10478228_C->T 11 10478228 10478228 C T snp 88.28 1/1 9 3 0 3 1.0 intronic rs2071020 AMPD3 AR NM_001025390 exon1 c.16+279C>T 0.435503 0.6935 Uncertain 11_10506255_G->T 11 10506255 10506255 G T snp 38.77 0/1 67 6 3 3 0.5 intronic rs10770119 AMPD3 AR NM_001172431 exon4 c.2706-111G>T 0.569289 0.6915 Uncertain 11_10506259_A->G 11 10506259 10506259 A G snp 340.77 1/1 27 10 0 10 1.0 intronic rs7128132 AMPD3 AR NM_001172431 exon4 c.2706-107A>G 0.944289 0.9563 Uncertain 11_10508938_T->C 11 10508938 10508938 T C snp 723.77 0/1 99 64 31 33 0.52 intronic rs3802917 AMPD3 AR NM_001172431 exon5 c.5251+27T>C 0.272364 0.2421 0.230716 0.2501 0.2466 Uncertain 11_10518289_T->C 11 10518289 10518289 T C snp 1118.77 1/1 84 32 0 32 1.0 intronic rs1466426 AMPD3 AR NM_001172431 exon9 c.14698-69T>C 0.726438 0.9385 Uncertain 11_10518521_C->T 11 10518521 10518521 C T snp 1524.77 0/1 99 121 56 65 0.54 intronic rs2071016 AMPD3 AR NM_001172431 exon9 c.14825+36C>T 0.479233 0.6935 0.482448 0.5232 0.6657 Uncertain 11_10518585_A->G 11 10518585 10518585 A G snp 1146.77 1/1 84 31 0 31 1.0 intronic rs2071017 AMPD3 AR NM_001172431 exon9 c.14825+100A>G 0.251797 0.4802 Uncertain 11_10521764_T->C 11 10521764 10521764 T C snp 4340.77 1/1 99 160 0 160 1.0 exonic rs3741041 AMPD3 AR synonymous SNV NM_001025389 exon11 c.T1689C p.Y563Y 0.367412 0.6944 0.314473 0.4084 0.6688 Uncertain 11_10521850_G->A 11 10521850 10521850 G A snp 1647.77 1/1 87 60 1 59 0.98 intronic rs3741039 AMPD3 AR NM_001172431 exon10 c.18136+54G>A 0.494409 0.6865 Uncertain 11_10521948_C->T 11 10521948 10521948 C T snp 374.77 1/1 30 10 0 10 1.0 intronic rs3741038 AMPD3 AR NM_001172431 exon10 c.18136+152C>T 0.510783 0.6875 Uncertain 11_10522983_G->T 11 10522983 10522983 G T snp 1482.77 1/1 99 46 0 46 1.0 intronic rs1870951 AMPD3 AR NM_001172431 exon11 c.19356-33G>T 0.475439 0.6905 0.429308 0.5111 0.6680 Uncertain 11_10526060_C->T 11 10526060 10526060 C T snp 5405.77 1/1 99 203 0 203 1.0 intronic rs7943804 AMPD3 AR NM_001172431 exon13 c.22435-35C>T 0.861821 0.8641 0.868283 0.8835 0.8677 Uncertain 11_10536724_T->C 11 10536724 10536724 T C snp 220.84 1/1 18 7 0 7 1.0 intronic rs6484344 RNF141 AU NM_016422 exon1 c.151+111T>C 0.472244 0.6964 Uncertain 11_10540412_AA->- 11 10540412 10540413 AA - indel 407.74 1/1 27 9 0 9 1.0 intronic rs35663883 RNF141 AU NM_016422 exon2 c.4118-168_4118-167delAA 0.465855 0.6935 Uncertain 11_10553355_C->T 11 10553355 10553355 C T snp 824.77 1/1 60 25 0 25 1.0 intronic rs4910153 RNF141 AU NM_016422 exon4 c.15836+1057C>T 0.506789 0.6994 Uncertain 11_10553672_C->T 11 10553672 10553672 C T snp 351.78 1/1 27 9 0 9 1.0 intronic rs4910154 RNF141 AU NM_016422 exon4 c.15836+1374C>T 0.746805 0.8433 Uncertain 11_10553675_C->T 11 10553675 10553675 C T snp 349.78 1/1 27 9 0 9 1.0 intronic rs4910155 RNF141 AU NM_016422 exon4 c.15836+1377C>T 0.996006 1 Uncertain 11_10555589_A->G 11 10555589 10555589 A G snp 3494.77 1/1 99 139 0 139 1.0 exonic rs1065052 RNF141 AU synonymous SNV NM_016422 exon2 c.T117C p.L39L 0.356629 0.6954 0.307929 0.4050 0.6734 Uncertain 11_10581623_C->G 11 10581623 10581623 C G snp 229.84 1/1 18 9 0 9 1.0 ncRNA_intronic rs746164 MRVI1-AS1 AU 0.383586 0.7054 Uncertain 11_10603648_A->G 11 10603648 10603648 A G snp 1539.77 1/1 99 49 0 49 1.0 ncRNA_intronic rs2288236 MRVI1-AS1 AU 0.353834 0.7093 Uncertain 11_10614911_C->G 11 10614911 10614911 C G snp 125.03 1/1 12 4 0 4 1.0 ncRNA_intronic rs3741033 MRVI1-AS1 AU 0.36861 0.7113 Uncertain 11_10615473_C->T 11 10615473 10615473 C T snp 303.78 1/1 24 9 0 9 1.0 ncRNA_intronic rs7126245 MRVI1-AS1 AU 0.61861 0.7163 Uncertain 11_10631247_C->T 11 10631247 10631247 C T snp 833.77 0/1 99 69 35 34 0.49 intronic rs3741042 MRVI1 AU NM_001206881 exon11 c.33396-27C>T 0.55611 0.6905 0.546638 0.5266 0.7045 Uncertain 11_10645289_A->G 11 10645289 10645289 A G snp 1352.77 0/1 99 87 36 51 0.59 intronic rs61892975 MRVI1 AU NM_001206881 exon12 c.47446-35A>G 0.368411 0.6974 0.326217 0.4229 0.7092 Uncertain 11_10645569_A->G 11 10645569 10645569 A G snp 290.77 0/1 99 22 12 10 0.45 intronic rs2303402 MRVI1 AU NM_001206881 exon12 c.47525+166A>G 0.443091 0.6964 Uncertain 11_10647702_G->A 11 10647702 10647702 G A snp 1750.77 0/1 99 147 84 63 0.43 exonic rs2241489 MRVI1 AU synonymous SNV NM_001206881 exon7 c.C234T p.L78L 0.445288 0.6915 0.425122 0.5100 0.7072 Uncertain 11_10649161_C->A 11 10649161 10649161 C A snp 1562.77 0/1 99 111 49 62 0.56 intronic rs1425152 MRVI1 AU NM_001206881 exon14 c.51384-101C>A 0.437101 0.6895 Uncertain 11_10650329_C->T 11 10650329 10650329 C T snp 1187.77 0/1 99 134 78 56 0.42 exonic rs2278125 MRVI1 AU synonymous SNV NM_001098579 exon5 c.G594A p.R198R 0.580871 0.7153 0.552107 0.6158 0.7418 Uncertain 11_10653426_A->G 11 10653426 10653426 A G snp 141.03 1/1 12 5 0 5 1.0 intronic rs10840450 MRVI1 AU NM_001206881 exon17 c.55659-111A>G 0.60024 0.7163 Uncertain 11_10653729_C->G 11 10653729 10653729 C G snp 82.77 0/1 99 10 5 5 0.5 intronic rs3741032 MRVI1 AU NM_001206881 exon17 c.55730+121C>G 0.392173 0.7044 Uncertain 11_10655609_C->T 11 10655609 10655609 C T snp 2718.77 1/1 99 101 0 101 1.0 exonic rs2162044 MRVI1 AU nonsynonymous SNV NM_001098579 exon2 c.G208A p.A70T 0.96905 1 0.963291 0.9780 0.9995 0.97 T 0.0 P -0.997 T 0.0 T 0.0 T Pathogenic 11_10673739_T->C 11 10673739 10673739 T C snp 4926.77 1/1 99 192 0 192 1.0 exonic rs4909945 MRVI1 AU nonsynonymous SNV NM_001098579 exon1 c.A31G p.I11V 0.873802 0.9692 0.771166 0.7620 0.9790 1.000 P -1.018 T 0.0 T 0.001 T Pathogenic 11_10709194_C->T 11 10709194 10709194 C T snp 552.77 1/1 42 14 0 14 1.0 intronic rs1035694 MRVI1 AU NM_001100167 exon20 c.113933-2617C>T 0.746805 0.8552 Uncertain 11_10715124_T->C 11 10715124 10715124 T C snp 858.77 1/1 63 33 0 33 1.0 exonic rs10770136 MRVI1 AU nonsynonymous SNV NM_001206880 exon1 c.A26G p.E9G 0.760783 0.8562 0.7375 0.9030 0.42 T 1.000 P -1.061 T 0.001 T 0.001 T Pathogenic 11_10777410_G->A 11 10777410 10777410 G A snp 1520.77 0/1 99 103 49 54 0.52 intronic rs2270621 CTR9 AU NM_014633 exon4 c.4383+68G>A 0.135383 0.1925 Uncertain 11_10778501_A->G 11 10778501 10778501 A G snp 218.77 0/1 99 15 5 10 0.67 intronic rs75182402 CTR9 AU NM_014633 exon5 c.5426+116A>G 0.1252 0.2351 Uncertain 11_10778510_T->G 11 10778510 10778510 T G snp 159.77 0/1 66 11 4 7 0.64 intronic rs6484483 CTR9 AU NM_014633 exon5 c.5426+125T>G 0.251597 0.1895 Uncertain 11_10786023_-->AGTTG 11 10786023 10786023 - AGTTG indel 4289.73 1/1 99 59 0 59 1.0 intronic rs112672233 CTR9 AU NM_014633 exon11 c.13024+40insAGTTG 0.627196 0.7847 0.512792 0.6348 0.8239 Uncertain 11_10786142_C->T 11 10786142 10786142 C T snp 2360.77 1/1 99 96 0 96 1.0 exonic rs3736326 CTR9 AU synonymous SNV NM_014633 exon12 c.C1461T p.H487H 0.611621 0.7847 0.511085 0.6377 0.8313 Uncertain 11_10791983_G->A 11 10791983 10791983 G A snp 1926.77 0/1 99 151 75 76 0.5 intronic rs2132517 CTR9 AU NM_014633 exon18 c.19074-50G>A 0.323283 0.2331 0.288838 0.1932 0.2291 Uncertain 11_10794281_C->A 11 10794281 10794281 C A snp 92.77 0/1 99 22 18 4 0.18 intronic rs11042957 CTR9 AU NM_014633 exon20 c.21243+79C>A 0.135583 0.1905 Uncertain 11_10795410_C->A 11 10795410 10795410 C A snp 76.77 0/1 99 7 3 4 0.57 intronic CTR9 AU NM_014633 exon22 c.22599-148C>A Uncertain 11_10795431_C->A 11 10795431 10795431 C A snp 90.77 0/1 99 12 7 5 0.42 intronic CTR9 AU NM_014633 exon22 c.22599-127C>A Uncertain 11_10795803_G->T 11 10795803 10795803 G T snp 56.74 1/1 6 2 0 2 1.0 intronic rs7103774 CTR9 AU NM_014633 exon22 c.22757+87G>T 0.938099 1 Uncertain 11_10797277_TTTCTT->- 11 10797277 10797282 TTTCTT - indel 481.8 1/1 18 12 0 12 1.0 intronic rs72259410 CTR9 AU NM_014633 exon24 c.24221+97_24221+102delTTTCTT 0.619409 0.7857 Uncertain 11_10821055_C->T 11 10821055 10821055 C T snp 3165.77 1/1 99 113 0 113 1.0 intronic rs3736327 EIF4G2 AU NM_001172705 exon4 c.1736-43C>T 0.636581 0.5774 0.598845 0.6401 0.5693 Uncertain 11_10822202_G->A 11 10822202 10822202 G A snp 4016.77 1/1 99 138 0 138 1.0 intronic rs4910190 EIF4G2 AU NM_001172705 exon6 c.2832+8G>A 0.494409 0.5764 0.438645 0.5753 0.5686 Uncertain 11_10822350_C->T 11 10822350 10822350 C T snp 5941.77 1/1 99 215 0 215 1.0 exonic rs7951708 EIF4G2 AU synonymous SNV NM_001042559 exon15 c.G1458A p.P486P 0.988818 1 0.988992 0.9973 1 Uncertain 11_10823079_T->C 11 10823079 10823079 T C snp 1920.77 1/1 99 61 0 61 1.0 ncRNA_exonic rs10840492 SNORD97 AU 0.494808 0.5764 0.450332 0.5814 0.5712 Uncertain 11_10823815_C->T 11 10823815 10823815 C T snp 5245.77 1/1 99 192 0 192 1.0 intronic rs7105210 EIF4G2 AU NM_001172705 exon11 c.4478-25C>T 0.998203 1 0.998537 0.9995 1 Uncertain 11_10824540_G->A 11 10824540 10824540 G A snp 101.28 1/1 9 6 0 6 1.0 intronic rs10743150 EIF4G2 AU NM_001172705 exon12 c.5214-36G>A 0.954273 0.9911 0.919323 0.9439 0.9927 Uncertain 11_10824731_C->T 11 10824731 10824731 C T snp 2495.77 1/1 99 91 0 91 1.0 intronic rs2270620 EIF4G2 AU NM_001172705 exon13 c.5395-26C>T 0.515775 0.5754 0.469284 0.6047 0.5717 Uncertain 11_10824980_A->G 11 10824980 10824980 A G snp 1442.77 0/1 99 112 60 52 0.46 intronic rs117826910 EIF4G2 AU NM_001172705 exon14 c.5664-46A>G 0.00838658 0.0387 0.000539 0.0048 0.0542 Uncertain 11_10826341_A->G 11 10826341 10826341 A G snp 1282.77 1/1 96 39 0 39 1.0 intronic rs2242360 EIF4G2 AU NM_001172705 exon18 c.7097-118A>G 0.616014 0.5764 Uncertain 11_10827418_T->C 11 10827418 10827418 T C snp 4757.77 1/1 99 170 0 170 1.0 intronic rs11042964 EIF4G2 AU NM_001172705 exon19 c.8091-35T>C 0.495008 0.5774 0.438183 0.5750 0.5699 Uncertain 11_10828361_C->A 11 10828361 10828361 C A snp 3190.85 1/1 99 127 1 126 0.99 splicing rs10743151 EIF4G2 AU NM_001172705 exon20 c.9004-5C>A 0.493011 0.5734 0.437875 0.5745 0.5678 Pathogenic 11_10828490_-->A 11 10828490 10828490 - A indel 1955.73 1/1 99 51 0 51 1.0 intronic rs11373962 EIF4G2 AU NM_001172705 exon20 c.9070+58insA 0.954673 0.9911 0.920288 Uncertain 11_10830106_A->G 11 10830106 10830106 A G snp 4420.77 1/1 99 153 0 153 1.0 intronic rs7127279 EIF4G2 AU NM_001418 exon22 c.10889-145A>G 0.990216 1 Uncertain 11_11292635_C->T 11 11292635 11292635 C T snp 300.77 0/1 99 23 10 13 0.57 UTR3 rs12282251 GALNT18 AU 0.180911 0.2391 Uncertain 11_11292700_G->C 11 11292700 11292700 G C snp 1043.77 0/1 99 74 26 48 0.65 exonic rs10831567 GALNT18 AU synonymous SNV NM_198516 exon11 c.C1815G p.L605L 0.400359 0.38 0.401540 0.4163 0.3616 Uncertain 11_11292859_G->T 11 11292859 11292859 G T snp 1192.77 0/1 99 108 55 53 0.49 intronic rs12282460 GALNT18 AU NM_198516 exon1 c.147+22G>T 0.174321 0.2381 0.174519 0.2015 0.2228 Uncertain 11_11292864_C->T 11 11292864 11292864 C T snp 1244.77 0/1 99 103 52 51 0.5 intronic rs12282401 GALNT18 AU NM_198516 exon1 c.147+27C>T 0.174521 0.2391 0.174981 0.2015 0.2228 Uncertain 11_11314538_C->T 11 11314538 11314538 C T snp 1445.77 0/1 99 135 68 67 0.5 intronic rs10437598 GALNT18 AU NM_198516 exon2 c.21885-37C>T 0.405551 0.3671 0.394226 0.3949 0.3570 Uncertain 11_11348828_A->G 11 11348828 11348828 A G snp 424.77 0/1 99 35 15 20 0.57 intronic rs745181 GALNT18 AU NM_198516 exon3 c.56038+100A>G 0.375399 0.3879 Uncertain 11_11354346_T->C 11 11354346 11354346 T C snp 1360.77 1/1 99 50 0 50 1.0 exonic rs901553 GALNT18 AU synonymous SNV NM_198516 exon8 c.A1311G p.A437A 0.434704 0.5764 0.367590 0.4155 0.5826 Uncertain 11_11354393_A->G 11 11354393 11354393 A G snp 419.77 0/1 99 26 8 18 0.69 intronic rs901554 GALNT18 AU NM_198516 exon4 c.61688+15A>G 0.870807 0.8978 0.848653 0.8865 0.8982 Uncertain 11_11373441_G->A 11 11373441 11373441 G A snp 54.74 1/1 6 2 0 2 1.0 intronic rs10765839 GALNT18 AU NM_198516 exon5 c.69861+10890G>A 0.883187 1 0.9040 1 Uncertain 11_11373508_T->C 11 11373508 11373508 T C snp 2009.77 1/1 99 58 0 58 1.0 exonic rs7948121 CSNK2A3 AU nonsynonymous SNV NM_001256686 exon1 c.A1159G p.T387A 0.951677 1 0.9842 1 Pathogenic 11_11373587_A->G 11 11373587 11373587 A G snp 6355.77 1/1 99 247 0 247 1.0 exonic rs7945066 CSNK2A3 AU synonymous SNV NM_001256686 exon1 c.T1080C p.T360T 0.951278 1 0.9858 1 Uncertain 11_11373635_C->T 11 11373635 11373635 C T snp 7367.77 1/1 99 250 0 250 1.0 exonic rs1056963 CSNK2A3 AU synonymous SNV NM_001256686 exon1 c.G1032A p.T344T 0.949681 1 0.9853 1 Uncertain 11_11373808_T->G 11 11373808 11373808 T G snp 5172.77 1/1 99 161 0 161 1.0 exonic rs1056951 CSNK2A3 AU nonsynonymous SNV NM_001256686 exon1 c.A859C p.S287R 0.948083 1 0.9847 1 Pathogenic 11_11373925_A->C 11 11373925 11373925 A C snp 7734.77 1/1 99 249 0 249 1.0 exonic rs4243927 CSNK2A3 AU nonsynonymous SNV NM_001256686 exon1 c.T742G p.F248V 0.945887 1 0.9842 1 Pathogenic 11_11373960_C->T 11 11373960 11373960 C T snp 7257.77 1/1 99 250 0 250 1.0 exonic rs2071461 CSNK2A3 AU nonsynonymous SNV NM_001256686 exon1 c.G707A p.R236H 0.625 0.6607 0.7044 0.6843 Pathogenic 11_11374016_T->A 11 11374016 11374016 T A snp 6864.77 1/1 99 240 0 240 1.0 exonic rs2896586 CSNK2A3 AU nonsynonymous SNV NM_001256686 exon1 c.A651T p.R217S 0.944289 1 0.9831 1 Pathogenic 11_11374269_A->G 11 11374269 11374269 A G snp 7305.77 1/1 99 250 0 250 1.0 exonic rs2071460 CSNK2A3 AU nonsynonymous SNV NM_001256686 exon1 c.T398C p.I133T 0.420527 0.5248 0.4731 0.5656 ID=CM104963;DIS=Lung cancer, association with;TAG=DFP;PUB=20625391 DFP Pathogenic 11_11374283_T->G 11 11374283 11374283 T G snp 7004.77 1/1 99 249 0 249 1.0 exonic rs2896585 CSNK2A3 AU nonsynonymous SNV NM_001256686 exon1 c.A384C p.L128F 0.946086 1 0.9843 1 Pathogenic 11_11398698_G->A 11 11398698 11398698 G A snp 276.77 0/1 52 12 2 10 0.83 intronic rs10444245 GALNT18 AU NM_198516 exon7 c.106038-30G>A 0.659345 0.506 0.817860 0.7523 0.4662 Uncertain 11_11398703_G->C 11 11398703 11398703 G C snp 54.77 0/1 83 14 11 3 0.21 intronic rs576715819 GALNT18 AU NM_198516 exon7 c.106038-25G>C 0.000399361 1.654e-05 0 Uncertain 11_11905993_C->T 11 11905993 11905993 C T snp 2192.77 1/1 99 69 0 69 1.0 intronic rs10765894 USP47 AU NM_017944 exon2 c.42281-20C>T 0.78155 0.7698 0.761430 0.7331 0.7842 Uncertain 11_11913585_G->T 11 11913585 11913585 G T snp 4639.77 1/1 99 182 0 182 1.0 exonic rs11022079 USP47 AU nonsynonymous SNV NM_017944 exon3 c.G224T p.G75V 0.823682 0.8562 0.779007 0.7502 0.8641 0.51 T 1.0 P -1.014 T 0.0 T 0.0 T Pathogenic 11_11944505_A->G 11 11944505 11944505 A G snp 263.77 0/1 99 18 9 9 0.5 intronic rs11822494 USP47 AU NM_017944 exon10 c.80706+67A>G 0.122005 0.2758 Uncertain 11_11954786_G->A 11 11954786 11954786 G A snp 272.8 1/1 21 9 0 9 1.0 intronic rs10741562 USP47 AU NM_017944 exon14 c.90931+123G>A 0.840256 0.7827 Uncertain 11_11955218_C->T 11 11955218 11955218 C T snp 141.03 1/1 12 5 0 5 1.0 intronic rs6485303 USP47 AU NM_017944 exon15 c.91645-159C>T 0.840655 0.7837 Uncertain 11_11976628_G->A 11 11976628 11976628 G A snp 1434.77 0/1 99 129 66 63 0.49 exonic rs7933089 USP47 AU synonymous SNV NM_017944 exon26 c.G3606A p.Q1202Q 0.714257 0.4861 0.726874 0.6850 0.4841 Uncertain 11_11977505_-->G 11 11977505 11977505 - G indel 334.73 0/1 99 18 7 11 0.61 intronic rs3215040 USP47 AU NM_017944 exon27 c.113815-42insG 0.126997 0.3016 0.070296 0.0901 0.3097 Uncertain 11_11986061_T->C 11 11986061 11986061 T C snp 3737.77 1/1 99 137 0 137 1.0 exonic rs3206824 DKK3 AU nonsynonymous SNV NM_015881 exon8 c.A1003G p.R335G 0.812101 0.7907 0.771824 0.7781 0.7995 0.42 T 0.0 P -1.001 T 0.0 T 0.0 T ID=CM063956;DIS=Leukemia, association with;TAG=DP;PUB=16574953 DP Pathogenic 11_11989899_T->C 11 11989899 11989899 T C snp 2154.77 1/1 99 71 0 71 1.0 intronic rs2291599 DKK3 AU NM_015881 exon4 c.3931-42T>C 0.857228 0.7113 0.857275 0.8301 0.7226 Uncertain 11_12023773_C->A 11 12023773 12023773 C A snp 1382.77 0/1 99 129 78 51 0.4 intronic rs67506856 DKK3 AU NM_015881 exon6 c.37836-73C>A 0.0770767 0.1339 Uncertain 11_12024049_A->- 11 12024049 12024049 A - indel 521.73 0/1 99 55 20 35 0.64 intronic rs3834918 DKK3 AU NM_015881 exon6 c.37974+65delA 0.251997 0.1339 Uncertain 11_12225752_A->G 11 12225752 12225752 A G snp 382.77 0/1 99 19 7 12 0.63 intronic rs3763822 MICAL2 AU NM_001282666 exon2 c.42094-44A>G 0.334265 0.4385 0.214704 0.1598 0.4293 Uncertain 11_12225946_T->G 11 12225946 12225946 T G snp 2801.77 0/1 99 244 119 125 0.51 exonic rs3763823 MICAL2 AU synonymous SNV NM_001282666 exon2 c.T414G p.R138R 0.701078 0.6508 0.653349 0.6161 0.6716 Uncertain 11_12229437_C->T 11 12229437 12229437 C T snp 210.77 0/1 99 21 13 8 0.38 intronic rs16910765 MICAL2 AU NM_001282666 exon3 c.45867-132C>T 0.277356 0.4385 Uncertain 11_12229655_T->G 11 12229655 12229655 T G snp 1005.77 0/1 99 87 42 45 0.52 exonic rs2279390 MICAL2 AU synonymous SNV NM_001282666 exon3 c.T558G p.V186V 0.401757 0.501 0.312317 0.3052 0.4998 Uncertain 11_12231179_G->T 11 12231179 12231179 G T snp 521.77 0/1 99 42 21 21 0.5 intronic rs2046488 MICAL2 AU NM_001282666 exon4 c.47443+34G>T 0.164137 0.4306 0.030485 0.0971 0.4232 Uncertain 11_12241567_G->C 11 12241567 12241567 G C snp 56.74 1/1 6 2 0 2 1.0 intronic rs16910796 MICAL2 AU NM_001282666 exon7 c.58045-180G>C 0.090655 0.2728 Uncertain 11_12241626_A->G 11 12241626 12241626 A G snp 713.77 1/1 54 20 0 20 1.0 intronic rs7101833 MICAL2 AU NM_001282666 exon7 c.58045-121A>G 0.660942 0.9484 Uncertain 11_12242030_A->G 11 12242030 12242030 A G snp 1009.77 1/1 75 30 0 30 1.0 intronic rs4237704 MICAL2 AU NM_001282666 exon7 c.58303+25A>G 0.451278 0.8254 0.261894 0.3268 0.7895 Uncertain 11_12246204_G->A 11 12246204 12246204 G A snp 1330.77 0/1 99 131 74 57 0.44 intronic rs78986346 MICAL2 AU NM_001282666 exon11 c.62517-15G>A 0.274361 0.5367 0.103002 0.2325 0.5331 Uncertain 11_12246233_G->C 11 12246233 12246233 G C snp 1931.77 0/1 99 200 124 76 0.38 exonic rs3816921 MICAL2 AU synonymous SNV NM_001282666 exon11 c.G1554C p.R518R 0.274561 0.5387 0.103233 0.2312 0.5305 Uncertain 11_12247665_C->T 11 12247665 12247665 C T snp 594.77 0/1 99 44 22 22 0.5 intronic rs2270507 MICAL2 AU NM_001282666 exon12 c.64015-52C>T 0.0936502 0.2937 Uncertain 11_12262476_C->A 11 12262476 12262476 C A snp 2577.77 1/1 99 91 0 91 1.0 intronic rs2641936 MICAL2 AU NM_001282664 exon17 c.78884-110C>A 0.963858 0.9692 Uncertain 11_12263714_G->T 11 12263714 12263714 G T snp 1935.77 1/1 99 64 0 64 1.0 intronic rs77070968 MICAL2 AU NM_001282664 exon18 c.80058-46G>T 0.10643 0.3244 0.035604 0.0864 0.3377 Uncertain 11_12270917_G->A 11 12270917 12270917 G A snp 640.77 1/1 48 16 0 16 1.0 intronic rs3751029 MICAL2 AU NM_001282666 exon16 c.87091+124G>A 0.13778 0.3462 Uncertain 11_12270932_A->G 11 12270932 12270932 A G snp 385.77 1/1 30 10 0 10 1.0 intronic rs3829265 MICAL2 AU NM_001282666 exon16 c.87091+139A>G 0.137979 0.3472 Uncertain 11_12278182_A->G 11 12278182 12278182 A G snp 64.77 0/1 93 8 5 3 0.38 intronic rs2279615 MICAL2 AU NM_001282666 exon17 c.94629-149A>G 0.140176 0.2966 Uncertain 11_12279937_T->C 11 12279937 12279937 T C snp 858.77 0/1 99 106 72 34 0.32 intronic rs2270513 MICAL2 AU NM_001282666 exon18 c.96312-77T>C 0.400759 0.503 Uncertain 11_12313887_C->G 11 12313887 12313887 C G snp 832.77 1/1 63 22 0 22 1.0 intronic rs1874043 MICALCL AU NM_032867 exon2 c.129+43C>G 0.917532 0.9415 0.923593 0.9239 0.9435 Uncertain 11_12315186_G->A 11 12315186 12315186 G A snp 6503.77 1/1 99 249 1 248 1.0 exonic rs10741578 MICALCL AU nonsynonymous SNV NM_032867 exon3 c.G208A p.V70I 0.533746 0.5952 0.424270 0.4419 0.6370 0.62 T 0.0 P -1.050 T 0.0 T 0.0 T Pathogenic 11_12315407_G->C 11 12315407 12315407 G C snp 4488.77 1/1 99 166 1 165 0.99 exonic rs10741579 MICALCL AU synonymous SNV NM_032867 exon3 c.G429C p.G143G 0.921725 0.9415 0.928312 0.9265 0.9432 Uncertain 11_12315716_C->T 11 12315716 12315716 C T snp 3354.77 1/1 99 130 1 129 0.99 exonic rs1493951 MICALCL AU synonymous SNV NM_032867 exon3 c.C738T p.A246A 0.922724 0.9415 0.925263 0.9269 0.9436 Uncertain 11_12315848_C->T 11 12315848 12315848 C T snp 3762.77 1/1 99 136 0 136 1.0 exonic rs1493952 MICALCL AU synonymous SNV NM_032867 exon3 c.C870T p.G290G 0.381824 0.3809 0.5361 Uncertain 11_12315891_G->A 11 12315891 12315891 G A snp 4643.77 1/1 99 153 0 153 1.0 exonic rs1493953 MICALCL AU nonsynonymous SNV NM_032867 exon3 c.G913A p.A305T 0.922524 0.9415 0.925738 0.9269 0.9440 0.69 T 0.0 P -1.000 T 0.0 T 0.0 T Pathogenic 11_12315915_A->G 11 12315915 12315915 A G snp 5255.77 1/1 99 178 0 178 1.0 exonic rs1493954 MICALCL AU nonsynonymous SNV NM_032867 exon3 c.A937G p.S313G 0.53095 0.6786 0.402956 0.4160 0.6661 0.4 T 0.0 P -0.979 T 0.076 T 0.029 T Pathogenic 11_12316344_-->CTC 11 12316344 12316344 - CTC indel 975.73 1/1 63 73 0 73 1.0 exonic rs767104379 MICALCL AU nonframeshift insertion NM_032867 exon3 c.1366_1367insCTC p.A456delinsAP 0.0034 0.0048 Uncertain 11_12341061_A->G 11 12341061 12341061 A G snp 300.78 1/1 24 8 0 8 1.0 intronic rs7130018 MICALCL AU NM_032867 exon4 c.27527-181A>G 0.335463 0.4196 Uncertain 11_12345459_C->T 11 12345459 12345459 C T snp 615.77 1/1 45 22 0 22 1.0 intronic rs903213 MICALCL AU NM_032867 exon5 c.31809-65C>T 0.920128 0.9444 Uncertain 11_12371595_A->G 11 12371595 12371595 A G snp 224.84 1/1 18 6 0 6 1.0 intronic rs7951657 MICALCL AU NM_032867 exon7 c.57769+111A>G 0.340655 0.499 Uncertain 11_12379792_G->C 11 12379792 12379792 G C snp 980.77 1/1 72 37 0 37 1.0 intronic rs10741583 MICALCL AU NM_032867 exon9 c.66126-49G>C 0.884585 0.9306 0.882020 0.8955 0.9361 Uncertain 11_12495575_C->G 11 12495575 12495575 C G snp 1112.77 0/1 99 77 33 44 0.57 intronic rs2288290 PARVA AU NM_018222 exon3 c.96456+45C>G 0.217252 0.3631 0.153973 0.2084 0.3810 Uncertain 11_12495607_T->C 11 12495607 12495607 T C snp 1494.77 1/1 99 49 0 49 1.0 intronic rs2288291 PARVA AU NM_018222 exon3 c.96456+77T>C 0.543331 0.7669 Uncertain 11_12495623_G->C 11 12495623 12495623 G C snp 891.77 1/1 66 27 0 27 1.0 intronic rs7109678 PARVA AU NM_018222 exon3 c.96456+93G>C 1 1 Uncertain 11_12518237_G->T 11 12518237 12518237 G T snp 330.77 0/1 99 21 8 13 0.62 intronic rs12223547 PARVA AU NM_018222 exon5 c.119071+92G>T 0.360224 0.5476 Uncertain 11_12532912_A->C 11 12532912 12532912 A C snp 399.77 1/1 30 14 0 14 1.0 intronic rs12283539 PARVA AU NM_018222 exon8 c.133986-148A>C 0.562101 0.6508 Uncertain 11_12534707_G->A 11 12534707 12534707 G A snp 6272.77 1/1 99 232 0 232 1.0 intronic rs2243707 PARVA AU NM_018222 exon9 c.135771-138G>A 0.750799 0.8016 0.7327 0.8327 0.31 T 0.0 P -0.946 T Uncertain 11_12534808_A->G 11 12534808 12534808 A G snp 7951.77 1/1 99 250 0 250 1.0 intronic rs2403631 PARVA AU NM_018222 exon9 c.135771-37A>G 0.984225 1 0.987034 0.9960 1 Uncertain 11_12535209_C->T 11 12535209 12535209 C T snp 1890.77 1/1 99 49 0 49 1.0 intronic rs2288293 PARVA AU NM_018222 exon9 c.135833+302C>T 0.50619 0.6409 Uncertain 11_12535415_A->G 11 12535415 12535415 A G snp 473.77 1/1 36 12 0 12 1.0 intronic rs11022380 PARVA AU NM_018222 exon10 c.136469-128A>G 0.982628 1 Uncertain 11_12535486_ACAGGCTCCTGCACTA->- 11 12535486 12535501 ACAGGCTCCTGCACTA - indel 8904.73 1/1 99 49 0 49 1.0 intronic rs56043920 PARVA AU NM_018222 exon10 c.136469-57_136469-42delACAGGCTCCTGCACTA 0.524561 0.6448 0.497909 Uncertain 11_12900348_AT->- 11 12900348 12900349 AT - indel 366.74 1/1 27 9 0 9 1.0 intronic rs10543484 TEAD1 AD NM_021961 exon6 c.115475-906_115475-905delAT Uncertain 11_12903443_C->T 11 12903443 12903443 C T snp 6131.77 1/1 99 233 0 233 1.0 exonic rs2304733 TEAD1 AD synonymous SNV NM_021961 exon8 c.C513T p.D171D 0.433706 0.8393 0.379273 0.4246 0.8390 Uncertain 11_12903565_G->A 11 12903565 12903565 G A snp 4530.77 1/1 99 149 0 149 1.0 intronic rs2304734 TEAD1 AD NM_021961 exon8 c.117725+61G>A 0.16234 0.4732 0.130311 Uncertain 11_12903754_C->T 11 12903754 12903754 C T snp 56.74 1/1 6 2 0 2 1.0 intronic rs10831915 TEAD1 AD NM_021961 exon8 c.117725+250C>T 0.279553 0.6994 Uncertain 11_12923434_T->C 11 12923434 12923434 T C snp 919.77 0/1 99 73 36 37 0.51 intronic rs2289436 TEAD1 AD NM_021961 exon10 c.137707-52T>C 0.348043 0.5813 Uncertain 11_12951623_A->C 11 12951623 12951623 A C snp 2093.77 1/1 99 66 0 66 1.0 intronic rs2245140 TEAD1 AD NM_021961 exon12 c.165941-97A>C 0.642173 0.5873 Uncertain 11_12951926_A->G 11 12951926 12951926 A G snp 3126.77 1/1 99 102 0 102 1.0 intronic rs2727360 TEAD1 AD NM_021961 exon12 c.166094+53A>G 0.959665 1 Uncertain 11_12952015_C->T 11 12952015 12952015 C T snp 416.77 1/1 33 11 0 11 1.0 intronic rs2727361 TEAD1 AD NM_021961 exon12 c.166094+142C>T 0.63778 0.5873 Uncertain 11_13379973_T->C 11 13379973 13379973 T C snp 1593.77 0/1 99 116 56 60 0.52 intronic rs2290037 ARNTL AU NM_001297724 exon8 c.3148-7T>C 0.0692891 0.1488 0.041885 0.0702 0.1487 Uncertain 11_13391472_C->A 11 13391472 13391472 C A snp 159.77 0/1 99 26 19 7 0.27 intronic rs3816358 ARNTL AU NM_001297724 exon12 c.14482+158C>A 0.10643 0.1726 Uncertain 11_13398129_T->A 11 13398129 13398129 T A snp 6135.77 1/1 99 225 1 224 1.0 intronic rs10741617 ARNTL AU NM_001297724 exon16 c.21354-57T>A 0.990815 1 0.9971 1 0.66 T 0.000 P -0.951 T Uncertain 11_13399791_A->G 11 13399791 13399791 A G snp 564.77 1/1 42 17 0 17 1.0 intronic rs10832030 ARNTL AU NM_001297724 exon17 c.23051-92A>G 0.708067 0.498 Uncertain 11_13400051_T->A 11 13400051 13400051 T A snp 1598.77 0/1 99 149 79 70 0.47 intronic rs60280155 ARNTL AU NM_001297724 exon17 c.23160+59T>A 0.189097 0.1696 Uncertain 11_13407184_C->T 11 13407184 13407184 C T snp 530.77 0/1 99 43 19 24 0.56 intronic rs2290034 ARNTL AU NM_001297724 exon19 c.30403-51C>T 0.187101 0.1706 0.181309 Uncertain 11_13441126_A->G 11 13441126 13441126 A G snp 1651.77 0/1 99 117 56 61 0.52 exonic rs7114113 BTBD10 AU synonymous SNV NM_001297741 exon3 c.T321C p.N107N 0.148163 0.1687 0.144133 0.1717 0.1637 Uncertain 11_13443250_C->T 11 13443250 13443250 C T snp 897.77 0/1 99 84 42 42 0.5 exonic rs3789325 BTBD10 AU synonymous SNV NM_001297741 exon2 c.G93A p.T31T 0.140176 0.1687 0.137358 0.1697 0.1637 Uncertain 11_13443459_A->T 11 13443459 13443459 A T snp 243.77 0/1 99 23 15 8 0.35 intronic rs11022814 BTBD10 AU NM_032320 exon7 c.33008+74A>T 0.140176 0.1687 Uncertain 11_13514053_G->T 11 13514053 13514053 G T snp 1953.77 0/1 99 146 69 77 0.53 exonic rs6256 PTH AD synonymous SNV NM_000315 exon3 c.C247A p.R83R 0.151358 0.121 0.123499 0.1611 0.1208 CLINSIG=pathogenic;CLNDBN=Primary_hyperparathyroidism;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000014767.24;CLNDSDB=MedGen:SNOMED_CT;CLNDSDBID=C0221002:36348003 Uncertain 11_13514417_C->T 11 13514417 13514417 C T snp 264.77 0/1 99 14 5 9 0.64 intronic rs694 PTH AD NM_000315 exon2 c.456+10C>T 0.417732 0.3065 0.513709 0.5579 0.3077 Uncertain 11_13716530_A->G 11 13716530 13716530 A G snp 405.77 0/1 99 38 19 19 0.5 intronic rs7130943 FAR1 AR NM_032228 exon2 c.189+29A>G 0.490815 0.2758 0.569372 0.5361 0.2487 Uncertain 11_13735378_A->G 11 13735378 13735378 A G snp 417.77 0/1 99 22 9 13 0.59 intronic rs78779405 FAR1 AR NM_032228 exon9 c.19743-677A>G 0.0245607 0.1032 Uncertain 11_13984583_C->T 11 13984583 13984583 C T snp 2677.77 0/1 99 236 125 111 0.47 exonic rs3761859 SPON1 AU unknown 0.238219 0.1746 0.236751 0.3672 0.2709 Uncertain 11_13984720_A->C 11 13984720 13984720 A C snp 2646.77 1/1 99 86 0 86 1.0 intronic SPON1 AU NM_006108 exon1 c.238+31A>C 0.794129 0.9802 0.791786 0.8206 0.9880 Uncertain 11_14101493_-->C 11 14101493 14101493 - C indel 6099.73 1/1 99 145 0 145 1.0 exonic rs5789820 SPON1 AU unknown 1 1 0.999829 1 1 Uncertain 11_14246296_G->A 11 14246296 14246296 G A snp 2088.77 1/1 99 78 0 78 1.0 intronic rs1025412 SPON1 AU NM_006108 exon7 c.280426-18581G>A 0.534145 0.621 0.516970 0.5271 0.6182 Uncertain 11_14264979_C->A 11 14264979 14264979 C A snp 3847.77 1/1 99 144 0 144 1.0 intronic SPON1 AU NM_006108 exon7 c.280491+37C>A 0.290535 0.504 0.238749 0.3310 0.5259 Uncertain 11_14278049_T->A 11 14278049 14278049 T A snp 3326.77 1/1 99 100 0 100 1.0 intronic SPON1 AU NM_006108 exon10 c.293711-113T>A 0.270966 0.377 Uncertain 11_14329984_C->G 11 14329984 14329984 C G snp 826.77 1/1 60 26 0 26 1.0 intronic RRAS2 AU NM_001102669 exon5 c.16519+12583C>G 0.841454 0.879 Uncertain 11_14378362_T->A 11 14378362 14378362 T A snp 139.03 1/1 12 5 0 5 1.0 intronic RRAS2 AU NM_001177315 exon6 c.78901-1421T>A Uncertain 11_14386145_A->G 11 14386145 14386145 A G snp 835.77 1/1 63 26 0 26 1.0 upstream RRAS2 AU 0.301717 0.3661 Uncertain 11_14480108_G->A 11 14480108 14480108 G A snp 1317.77 0/1 99 101 44 57 0.56 exonic COPB1 AU synonymous SNV NM_001144061 exon21 c.C2772T p.T924T Uncertain 11_14480292_C->T 11 14480292 14480292 C T snp 1114.77 1/1 84 32 0 32 1.0 intronic rs12576926 COPB1 AU NM_016451 exon2 c.864+59C>T 0.339856 0.3988 Uncertain 11_14497269_C->T 11 14497269 14497269 C T snp 3029.77 1/1 99 106 0 106 1.0 intronic rs2597194 COPB1 AU NM_016451 exon10 c.17961-61C>T 0.748003 0.6964 Uncertain 11_14501296_C->T 11 14501296 14501296 C T snp 711.77 1/1 54 22 0 22 1.0 intronic rs2575857 COPB1 AU NM_016451 exon12 c.21891+36C>T 0.693091 0.6964 0.644186 0.6490 0.6765 Uncertain 11_14512060_C->T 11 14512060 14512060 C T snp 292.78 1/1 24 9 0 9 1.0 intronic rs2597189 COPB1 AU NM_016451 exon18 c.32741-50C>T 0.746605 0.6964 0.724880 0.7009 0.6625 Uncertain 11_14516003_T->A 11 14516003 14516003 T A snp 575.77 1/1 42 19 0 19 1.0 intronic rs10832279 COPB1 AU NM_016451 exon20 c.36616+18T>A 0.66234 0.6796 0.5527 0.6323 Uncertain 11_14516004_T->A 11 14516004 14516004 T A snp 572.77 1/1 42 18 0 18 1.0 intronic rs10832280 COPB1 AU NM_016451 exon20 c.36616+19T>A 0.685304 0.6944 0.5512 0.6489 Uncertain 11_14520566_-->A 11 14520566 14520566 - A indel 88.87 1/1 15 9 0 9 1.0 intronic rs3214792 COPB1 AU NM_016451 exon21 c.41162+35insA 0.475639 0.4544 Uncertain 11_14532338_C->T 11 14532338 14532338 C T snp 348.78 1/1 27 14 0 14 1.0 intronic rs2597218 PSMA1 AU NM_148976 exon3 c.5680-79C>T 0.748003 0.6944 Uncertain 11_14539316_A->- 11 14539316 14539316 A - indel 293.73 1/1 44 22 1 21 0.95 intronic rs398015391 PSMA1 AU NM_148976 exon7 c.12554+25delA 0.530351 0.5258 0.4918 0.4861 Uncertain 11_14540671_A->G 11 14540671 14540671 A G snp 3755.77 1/1 99 137 0 137 1.0 intronic rs1823466 PSMA1 AU NM_148976 exon9 c.13850+84A>G 0.981829 1 Uncertain 11_14540942_C->T 11 14540942 14540942 C T snp 1064.77 1/1 42 33 1 32 0.97 intronic rs2305305 PSMA1 AU NM_148976 exon9 c.13850+355C>T 0.333666 0.3978 Uncertain 11_14632570_A->C 11 14632570 14632570 A C snp 4148.77 1/1 99 152 0 152 1.0 UTR5 rs1403247 PSMA1 AU 0.648363 0.6786 0.578688 0.5881 0.6570 Uncertain 11_14810762_A->G 11 14810762 14810762 A G snp 3001.77 1/1 99 116 0 116 1.0 exonic rs4757268 PDE3B AU synonymous SNV NM_000922 exon4 c.A1389G p.R463R 0.671326 0.6806 0.630736 0.6291 0.6560 Uncertain 11_14825704_A->G 11 14825704 14825704 A G snp 1742.77 1/1 99 48 0 48 1.0 intronic rs3740823 PDE3B AU NM_000922 exon5 c.159975+108A>G 0.670927 0.6786 Uncertain 11_14852490_G->A 11 14852490 14852490 G A snp 104.28 1/1 9 5 0 5 1.0 intronic rs1037378 PDE3B AU NM_000922 exon8 c.186771+98G>A 0.528554 0.5427 Uncertain 11_14856367_T->A 11 14856367 14856367 T A snp 212.84 1/1 18 6 0 6 1.0 intronic rs2122941 PDE3B AU NM_000922 exon11 c.190906-160T>A 0.675519 0.6815 Uncertain 11_14913575_G->A 11 14913575 14913575 G A snp 2021.77 1/1 99 80 0 80 1.0 exonic CYP2R1 AR synonymous SNV NM_024514 exon1 c.C177T p.S59S 0.349241 0.3681 0.341623 0.4106 0.3689 Uncertain 11_14991539_T->C 11 14991539 14991539 T C snp 1723.77 1/1 99 60 0 60 1.0 exonic CALCA AU nonsynonymous SNV NM_001741 exon3 c.A169G p.N57D 0.986821 1 0.983677 0.9953 1 1 T 0.0 P -0.981 T 0.0 T 0.0 T Pathogenic 11_15096419_C->T 11 15096419 15096419 C T snp 1648.77 1/1 99 48 0 48 1.0 intronic rs1540139 CALCB AU NM_000728 exon2 c.86+69C>T 0.708067 0.8492 Uncertain 11_15099143_C->T 11 15099143 15099143 C T snp 56.74 1/1 6 2 0 2 1.0 intronic rs2282654 CALCB AU NM_000728 exon4 c.2752+127C>T 0.721845 0.8492 Uncertain 11_15197186_A->G 11 15197186 15197186 A G snp 1580.77 1/1 99 51 0 51 1.0 intronic rs1792588 INSC AU NM_001278314 exon2 c.26566-100A>G 0.648163 0.9335 Uncertain 11_15198772_G->T 11 15198772 15198772 G T snp 746.77 1/1 54 29 0 29 1.0 intronic rs1624731 INSC AU NM_001278314 exon3 c.27989+63G>T 0.645168 0.9266 0.485764 Uncertain 11_15199957_T->C 11 15199957 15199957 T C snp 2450.77 1/1 99 88 0 88 1.0 exonic rs1714376 INSC AU synonymous SNV NM_001278313 exon4 c.T543C p.G181G 0.893171 0.9762 0.840000 0.8634 0.9858 Uncertain 11_15212070_T->C 11 15212070 15212070 T C snp 86.77 0/1 30 4 1 3 0.75 intronic rs80322705 INSC AU NM_001278314 exon6 c.41526-176T>C 0.0373403 0.1319 Uncertain 11_15261875_G->C 11 15261875 15261875 G C snp 512.77 1/1 39 13 0 13 1.0 intronic rs2271827 INSC AU NM_001278314 exon12 c.91272-117G>C 0.769369 0.8671 Uncertain 11_15262321_C->G 11 15262321 15262321 C G snp 56.74 1/1 6 2 0 2 1.0 intronic rs7116710 INSC AU NM_001278314 exon12 c.91349+252C>G 0.599241 0.7698 Uncertain 11_15267727_A->G 11 15267727 15267727 A G snp 765.77 1/1 57 24 0 24 1.0 UTR3 rs1945624 INSC AU 0.769768 0.8681 Uncertain 11_16117461_A->- 11 16117461 16117461 A - indel 74.73 0/1 99 39 25 14 0.36 intronic SOX6 AU NM_001145819 exon8 c.123187-80delA Uncertain 11_16205323_T->C 11 16205323 16205323 T C snp 1252.77 1/1 93 40 0 40 1.0 intronic rs7926424 SOX6 AU NM_001145811 exon10 c.211077-108T>C 0.634984 0.748 Uncertain 11_16205595_C->T 11 16205595 16205595 C T snp 514.77 1/1 39 13 0 13 1.0 intronic rs1455111 SOX6 AU NM_001145811 exon10 c.211146+95C>T 0.664137 0.748 Uncertain 11_16339918_-->T 11 16339918 16339918 - T indel 415.73 0/1 99 92 28 64 0.7 intronic rs34820506 SOX6 AU NM_001145811 exon13 c.345637-73insT 0.2739 0.3758 Uncertain 11_16362933_T->C 11 16362933 16362933 T C snp 172.77 0/1 99 21 13 8 0.38 intronic rs10430891 SOX6 AU NM_001145811 exon14 c.368444+135T>C 0.192692 0.2421 Uncertain 11_16760244_T->G 11 16760244 16760244 T G snp 865.77 1/1 63 29 0 29 1.0 UTR5 rs1846936 C11orf58 AU 0.863019 0.9048 Uncertain 11_16766106_T->C 11 16766106 16766106 T C snp 613.77 0/1 99 47 19 28 0.6 intronic rs2270886 C11orf58 AU NM_014267 exon2 c.5822-41T>C 0.189896 0.3244 0.148867 0.2067 0.3455 Uncertain 11_16775656_C->- 11 16775656 16775656 C - indel 468.73 0/1 99 27 13 14 0.52 intronic rs34665109 C11orf58 AU NM_014267 exon5 c.16092-761delC 0.189896 0.3244 Uncertain 11_16823059_T->C 11 16823059 16823059 T C snp 37.77 0/1 66 6 4 2 0.33 intronic rs216488 PLEKHA7 AU NM_175058 exon8 c.12581-155T>C 0.613419 0.6508 Uncertain 11_16834510_G->A 11 16834510 16834510 G A snp 99.28 1/1 9 3 0 3 1.0 intronic rs216495 PLEKHA7 AU NM_175058 exon11 c.24026-149G>A 0.703275 0.75 Uncertain 11_16837874_A->G 11 16837874 16837874 A G snp 523.77 1/1 39 15 0 15 1.0 intronic rs10832684 PLEKHA7 AU NM_175058 exon12 c.27178+63A>G 0.145966 0.2113 Uncertain 11_16837904_C->A 11 16837904 16837904 C A snp 212.84 1/1 18 6 0 6 1.0 intronic rs10832685 PLEKHA7 AU NM_175058 exon12 c.27178+93C>A 0.127796 0.2113 Uncertain 11_16847558_A->G 11 16847558 16847558 A G snp 546.77 0/1 99 29 10 19 0.66 intronic rs400458 PLEKHA7 AU NM_175058 exon14 c.37033-108A>G 0.195088 0.1637 Uncertain 11_16848077_G->A 11 16848077 16848077 G A snp 1962.77 0/1 99 183 105 78 0.43 exonic rs390974 PLEKHA7 AU synonymous SNV NM_175058 exon10 c.C933T p.H311H 0.194289 0.1617 0.169387 0.1421 0.1554 Uncertain 11_16863049_C->T 11 16863049 16863049 C T snp 258.77 0/1 99 20 11 9 0.45 intronic rs369457 PLEKHA7 AU NM_175058 exon15 c.52460-44C>T 0.194688 0.1617 0.168925 0.1430 0.1549 Uncertain 11_16863087_A->G 11 16863087 16863087 A G snp 400.77 0/1 99 36 20 16 0.44 intronic rs452745 PLEKHA7 AU NM_175058 exon15 c.52460-6A>G 0.194688 0.1617 0.169079 0.1433 0.1549 Uncertain 11_16863130_T->C 11 16863130 16863130 T C snp 662.77 0/1 99 56 27 29 0.52 exonic rs369819 PLEKHA7 AU nonsynonymous SNV NM_175058 exon9 c.A836G p.Q279R 0.0429313 0.0784 0.012781 0.0336 0.0764 0.43 T 1.000 D -1.006 T 0.695 T 0.416 P Pathogenic 11_16863362_T->A 11 16863362 16863362 T A snp 180.77 0/1 99 20 12 8 0.4 intronic rs454869 PLEKHA7 AU NM_175058 exon15 c.52636+93T>A 0.194688 0.1617 Uncertain 11_16872957_A->C 11 16872957 16872957 A C snp 46.77 0/1 36 4 2 2 0.5 intronic rs381163 PLEKHA7 AU NM_175058 exon16 c.62205+119A>C 0.869609 0.9137 Uncertain 11_16873799_C->T 11 16873799 16873799 C T snp 2323.77 0/1 99 205 110 95 0.46 intronic rs417406 PLEKHA7 AU NM_175058 exon17 c.63196-30C>T 0.11262 0.1577 0.090699 0.1200 0.1534 Uncertain 11_16874067_C->T 11 16874067 16874067 C T snp 353.77 0/1 99 27 15 12 0.44 intronic rs418113 PLEKHA7 AU NM_175058 exon17 c.63269+165C>T 0.798123 0.9127 Uncertain 11_16876618_G->A 11 16876618 16876618 G A snp 1866.77 0/1 99 175 92 83 0.47 intronic rs409354 PLEKHA7 AU NM_175058 exon18 c.65907+78G>A 0.104433 0.1369 Uncertain 11_16892477_C->G 11 16892477 16892477 C G snp 788.77 0/1 99 59 27 32 0.54 intronic rs402973 PLEKHA7 AU NM_175058 exon20 c.82012-168C>G 0.370008 0.25 Uncertain 11_17035487_-->C 11 17035487 17035487 - C indel 598.73 0/1 99 38 11 27 0.71 intronic rs545393853 PLEKHA7 AU NM_175058 exon21 c.224902-48insC 0.0440 0.3462 Uncertain 11_17035718_A->G 11 17035718 17035718 A G snp 3419.77 1/1 99 125 0 125 1.0 exonic rs61881311 PLEKHA7 AU synonymous SNV NM_175058 exon2 c.T117C p.H39H 0.707867 0.9653 0.629753 0.6942 0.9575 0 D 1.0 P -1.061 T Likely benign 11_17096059_A->G 11 17096059 17096059 A G snp 4707.77 1/1 99 172 0 172 1.0 intronic rs11024148 RPS13 AU NM_001017 exon1 c.34+46A>G 0.641773 0.8145 0.561075 0.5942 0.8442 Uncertain 11_17096150_T->A 11 17096150 17096150 T A snp 6494.77 1/1 99 229 0 229 1.0 intronic rs7125607 RPS13 AU NM_001017 exon1 c.34+137T>A 0.642772 0.8145 0.593106 Uncertain 11_17111198_GT->- 11 17111198 17111199 GT - indel 923.73 1/1 66 22 0 22 1.0 UTR3 rs66708666 PIK3C2A AU 0.214257 0.4563 Uncertain 11_17111272_A->G 11 17111272 17111272 A G snp 2455.77 1/1 99 91 0 91 1.0 UTR3 rs10832733 PIK3C2A AU 0.632588 0.8115 0.564444 0.5893 0.8427 Uncertain 11_17113483_C->T 11 17113483 17113483 C T snp 272.8 1/1 21 10 0 10 1.0 intronic rs7113396 PIK3C2A AU NM_002645 exon4 c.2258-59C>T 0.997005 1 0.996715 Uncertain 11_17116027_T->C 11 17116027 17116027 T C snp 161.9 1/1 15 5 0 5 1.0 intronic rs17847728 PIK3C2A AU NM_002645 exon6 c.4648+95T>C 0.142173 0.4167 Uncertain 11_17333377_T->G 11 17333377 17333377 T G snp 600.77 1/1 45 20 0 20 1.0 intronic rs12225041 NUCB2 AU NM_005013 exon9 c.16548-41T>G 0.253794 0.5139 0.229289 0.2595 0.5037 Uncertain 11_17333663_G->A 11 17333663 17333663 G A snp 1164.77 1/1 84 42 0 42 1.0 splicing rs2521998 NUCB2 AU NM_005013 exon10 c.16792+1G>A 1 1 0.999915 1.0000 1 0.58 T 0.000 P -0.971 T 0.0 T 0.0 T Pathogenic 11_17339127_T->C 11 17339127 17339127 T C snp 2359.77 1/1 99 82 0 82 1.0 intronic rs2634462 NUCB2 AU NM_005013 exon11 c.20152+2105T>C 0.715855 0.8829 0.6904 0.8788 Uncertain 11_17351873_-->A 11 17351873 17351873 - A indel 2564.73 1/1 99 76 0 76 1.0 intronic rs34471145 NUCB2 AU NM_005013 exon12 c.34974+29insA 0.259385 0.5139 0.236367 0.2611 0.5032 Uncertain 11_17352478_ACA->- 11 17352478 17352480 ACA - indel 2394.73 1/1 99 47 0 47 1.0 exonic rs3842269 NUCB2 AU nonframeshift deletion NM_005013 exon13 c.1203_1205del p.401_402del 0.253594 0.5139 0.230074 0.2574 0.4992 ID=COSM1237695;OCCURENCE=1(thyroid) Uncertain 11_17390594_C->A 11 17390594 17390594 C A snp 621.77 0/1 99 53 28 25 0.47 intronic rs140923117 NCR3LG1 AU NM_001202439 exon4 c.16995+83C>A 0.00459265 0.0149 Uncertain 11_17394073_C->G 11 17394073 17394073 C G snp 3152.77 1/1 99 108 0 108 1.0 UTR3 rs10832778 NCR3LG1 AU 0.732428 0.6637 0.6694 0.6429 Uncertain 11_17408404_C->T 11 17408404 17408404 C T snp 675.77 0/1 99 71 38 33 0.46 UTR3 rs5213 KCNJ11 AU,AD,AR 0.735823 0.6617 Uncertain 11_17408630_C->T 11 17408630 17408630 C T snp 2450.77 0/1 99 185 87 98 0.53 exonic rs5215 KCNJ11 AU,AD,AR nonsynonymous SNV NM_000525 exon1 c.G1009A p.V337I 0.730631 0.6617 0.732019 0.6448 0.6396 0.1 T 0.000 P -0.825 T 0.004 T 0.009 T CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000146099.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 ID=CM078157;DIS=Diabetes mellitus 2, association with;TAG=DP;PUB=17257281 DP Pathogenic 11_17408787_G->T 11 17408787 17408787 G T snp 1930.77 0/1 99 170 91 79 0.46 exonic rs1800854 KCNJ11 AU,AD,AR synonymous SNV NM_000525 exon1 c.C852A p.I284I 0.000399361 0.002 0.0003 0.0046 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000146120.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 11_17409069_G->A 11 17409069 17409069 G A snp 2912.77 0/1 99 218 99 119 0.55 exonic rs5218 KCNJ11 AU,AD,AR synonymous SNV NM_000525 exon1 c.C570T p.A190A 0.227436 0.5129 0.222855 0.2582 0.4879 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000146111.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 ID=CM035697;DIS=Diabetes, type 2, association with;TAG=DFP;PUB=14551916 DFP Uncertain 11_17409572_T->C 11 17409572 17409572 T C snp 2973.77 0/1 99 249 133 116 0.47 exonic rs5219 KCNJ11 AU,AD,AR nonsynonymous SNV NM_000525 exon1 c.A67G p.K23E 0.737021 0.6617 0.738103 0.6471 0.6401 0.38 T 0.998 P -0.974 T 0.0 T 0.001 T CLINSIG=other|drug-response|non-pathogenic|non-pathogenic;CLNDBN=Diabetes_mellitus_type_2|Exercise_stress_response\x2c_impaired\x2c_association_with|Permanent_neonatal_diabetes_mellitus|not_specified;CLNREVSTAT=no_assertion_criteria_provided|no_assertion_criteria_provided|no_assertion_criteria_provided|criteria_provided\x2c_multiple_submitters\x2c_no_conflicts;CLNACC=RCV000009214.2|RCV000009215.2|RCV000020356.1|RCV000146116.1;CLNDSDB=MedGen:OMIM:SNOMED_CT|.|GeneReviews:MedGen:OMIM:Orphanet:Orphanet|MedGen;CLNDSDBID=C0011860:125853:44054006|.|NBK1447:C1833104:606176:ORPHA79134:ORPHA99885|CN169374 ID=CM981121;DIS=Diabetes mellitus 2, association with;TAG=DFP;PUB=9867219 DFP Pathogenic 11_17410283_C->T 11 17410283 17410283 C T snp 964.77 0/1 99 90 41 49 0.54 upstream rs5222 KCNJ11 AU,AD,AR 0.46845 0.5804 Uncertain 11_17414778_G->- 11 17414778 17414778 G - indel 322.73 0/1 99 24 9 15 0.63 intronic rs1799731 ABCC8 AU,AD,AR NM_000352 exon1 c.138+103delG 0.261182 0.5258 Uncertain 11_17415190_C->G 11 17415190 17415190 C G snp 2241.77 0/1 99 164 69 95 0.58 intronic rs4148646 ABCC8 AU,AD,AR NM_000352 exon2 c.706-53C>G 0.73103 0.6587 0.727989 Uncertain 11_17418477_C->A 11 17418477 17418477 C A snp 1683.77 0/1 99 159 88 71 0.45 exonic rs757110 ABCC8 AU,AD,AR nonsynonymous SNV NM_000352 exon33 c.G4105T p.A1369S 0.726438 0.6389 0.738565 0.6431 0.6206 0.58 T 0.000 P -1.002 T 0.0 T 0.0 T CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000144996.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 ID=CM004821;DIS=Enhanced insulin secretion in pregnancy, association;TAG=DFP;PUB=11117432 DFP Pathogenic 11_17429922_T->C 11 17429922 17429922 T C snp 565.77 1/1 42 17 0 17 1.0 intronic rs2106865 ABCC8 AU,AD,AR NM_000352 exon17 c.15401-16T>C 0.614617 0.7232 0.608809 0.6125 0.7429 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000144989.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 11_17435936_G->A 11 17435936 17435936 G A snp 552.77 1/1 42 15 0 15 1.0 intronic rs4148631 ABCC8 AU,AD,AR NM_000352 exon21 c.21521-122G>A 0.747005 0.8968 Uncertain 11_17435966_G->A 11 17435966 17435966 G A snp 1095.77 1/1 81 35 0 35 1.0 intronic rs4148630 ABCC8 AU,AD,AR NM_000352 exon21 c.21521-92G>A 0.746605 0.8968 Uncertain 11_17436936_A->G 11 17436936 17436936 A G snp 4389.77 1/1 99 169 0 169 1.0 intronic rs4148626 ABCC8 AU,AD,AR NM_000352 exon22 c.22349+50A>G 0.903754 0.9177 0.893270 0.8760 0.9098 Uncertain 11_17448704_G->A 11 17448704 17448704 G A snp 2644.77 1/1 99 89 0 89 1.0 splicing rs1799854 ABCC8 AU,AD,AR NM_000352 exon24 c.34164+3G>A 0.368411 0.5506 0.353612 0.4346 0.5996 ID=CS991507;DIS=Diabetes mellitus 2, association with;TAG=DP;PUB=8635661 DP Pathogenic 11_17452492_G->A 11 17452492 17452492 G A snp 767.77 0/1 99 70 35 35 0.5 exonic rs1799857 ABCC8 AU,AD,AR synonymous SNV NM_000352 exon12 c.C1686T p.H562H 0.429912 0.3125 0.458725 0.4311 0.2844 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000144979.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 11_17452580_C->T 11 17452580 17452580 C T snp 403.77 0/1 99 26 11 15 0.58 intronic rs2074308 ABCC8 AU,AD,AR NM_000352 exon28 c.37969+74C>T 0.148962 0.2024 ID=CS035707;DIS=Diabetes, type 2, association with;TAG=DP;PUB=14551916 DP Uncertain 11_17453648_T->C 11 17453648 17453648 T C snp 443.77 0/1 99 41 22 19 0.46 intronic ABCC8 AU,AD,AR NM_000352 exon29 c.39213-102T>C Uncertain 11_17464534_T->C 11 17464534 17464534 T C snp 906.77 1/1 66 32 0 32 1.0 intronic rs2073587 ABCC8 AU,AD,AR NM_000352 exon30 c.49892+105T>C 0.430312 0.2708 Uncertain 11_17481948_T->C 11 17481948 17481948 T C snp 1113.77 1/1 81 36 0 36 1.0 intronic rs886291 ABCC8 AU,AD,AR NM_000352 exon34 c.67497-86T>C 0.366813 0.372 Uncertain 11_17484971_G->A 11 17484971 17484971 G A snp 1384.77 1/1 99 44 0 44 1.0 intronic rs2301703 ABCC8 AU,AD,AR NM_000352 exon36 c.70447-13G>A 0.467452 0.381 0.486986 0.4604 0.4464 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000145005.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 11_17491571_C->T 11 17491571 17491571 C T snp 1368.77 1/1 99 50 0 50 1.0 intronic rs10400389 ABCC8 AU,AD,AR NM_000352 exon37 c.77110-76C>T 0.430911 0.376 Uncertain 11_17496516_A->G 11 17496516 17496516 A G snp 6294.77 1/1 99 229 0 229 1.0 exonic rs1048099 ABCC8 AU,AD,AR synonymous SNV NM_000352 exon2 c.T207C p.P69P 0.439297 0.3611 0.476821 0.4740 0.3640 ID=CM129527;DIS=Diabetes mellitus, protection against;TAG=DFP;PUB=21671119 DFP Uncertain 11_17515693_G->A 11 17515693 17515693 G A snp 139.03 1/1 12 4 0 4 1.0 UTR3 rs1055577 USH1C AR 0.366613 0.2887 Uncertain 11_17515833_A->G 11 17515833 17515833 A G snp 1059.77 1/1 75 42 0 42 1.0 UTR3 rs1055574 USH1C AR 0.370407 0.2946 0.452410 0.4536 0.3338 Uncertain 11_17515970_G->A 11 17515970 17515970 G A snp 932.77 1/1 69 37 0 37 1.0 intronic rs2072225 USH1C AR NM_005709 exon1 c.13+47G>A 0.314696 0.2927 0.389172 0.3936 0.3298 Uncertain 11_17516038_C->T 11 17516038 17516038 C T snp 332.78 1/1 27 11 0 11 1.0 intronic rs2072227 USH1C AR NM_005709 exon1 c.13+115C>T 0.36901 0.2946 Uncertain 11_17517407_G->C 11 17517407 17517407 G C snp 56.74 1/1 6 2 0 2 1.0 intronic rs1859824 USH1C AR NM_153676 exon2 c.1346+183G>C 0.935304 0.9127 Uncertain 11_17519742_C->G 11 17519742 17519742 C G snp 7804.77 1/1 99 250 2 248 0.99 exonic rs1064074 USH1C AR nonsynonymous SNV NM_005709 exon19 c.G1557C p.E519D 0.420927 0.3026 0.515093 0.4875 0.3068 0.28 T 0.125 P -0.959 T 0.046 T 0.061 T CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000041279.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 11_17531449_G->T 11 17531449 17531449 G T snp 870.77 1/1 63 31 0 31 1.0 intronic rs2237965 USH1C AR NM_153676 exon10 c.15507+64G>T 0.719649 0.7083 Uncertain 11_17533397_G->A 11 17533397 17533397 G A snp 1344.77 1/1 99 40 0 40 1.0 intronic rs2190453 USH1C AR NM_153676 exon12 c.17570-51G>A 0.464457 0.623 0.476374 Uncertain 11_17533635_G->A 11 17533635 17533635 G A snp 4381.77 1/1 99 151 1 150 0.99 intronic rs2190454 USH1C AR NM_153676 exon12 c.17723+34G>A 0.726837 0.7083 0.683274 0.7153 0.7090 Uncertain 11_17537705_G->C 11 17537705 17537705 G C snp 414.77 0/1 99 23 9 14 0.61 intronic rs2237961 USH1C AR NM_153676 exon13 c.21909-82G>C 0.185903 0.2242 Uncertain 11_17538048_G->A 11 17538048 17538048 G A snp 159.77 0/1 63 9 2 7 0.78 intronic rs2237960 USH1C AR NM_153676 exon13 c.21959+211G>A 0.141174 0.2272 Uncertain 11_17539212_T->C 11 17539212 17539212 T C snp 303.78 1/1 24 10 0 10 1.0 intronic rs10766408 USH1C AR NM_005709 exon7 c.23111+191T>C 0.63778 0.6796 Uncertain 11_17542439_T->C 11 17542439 17542439 T C snp 3194.83 1/1 99 119 0 119 1.0 exonic rs2240487 USH1C AR synonymous SNV NM_005709 exon14 c.A1188G p.P396P 0.516374 0.6716 0.504004 0.5689 0.6642 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000041251.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 11_17542583_C->T 11 17542583 17542583 C T snp 3675.77 1/1 99 138 0 138 1.0 intronic rs2108332 USH1C AR NM_005709 exon8 c.26631+42C>T 0.614018 0.7063 0.567226 0.6160 0.6927 Uncertain 11_17542586_T->C 11 17542586 17542586 T C snp 3579.77 1/1 99 132 0 132 1.0 intronic rs2041031 USH1C AR NM_005709 exon8 c.26631+45T>C 0.614018 0.7063 0.567765 0.6160 0.6930 Uncertain 11_17542649_T->C 11 17542649 17542649 T C snp 2009.77 1/1 99 65 0 65 1.0 intronic rs2041032 USH1C AR NM_005709 exon8 c.26631+108T>C 0.605032 0.6984 Uncertain 11_17542872_G->C 11 17542872 17542872 G C snp 2693.77 1/1 99 98 0 98 1.0 intronic rs2240488 USH1C AR NM_005709 exon9 c.26982-20G>C 0.442692 0.6399 0.414292 0.4652 0.6246 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000041248.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 11_17545091_A->G 11 17545091 17545091 A G snp 2040.77 1/1 99 75 0 75 1.0 intronic rs4757539 USH1C AR NM_005709 exon12 c.29115+66A>G 0.614018 0.6935 0.559571 Uncertain 11_17547920_C->T 11 17547920 17547920 C T snp 2818.77 0/1 99 247 124 123 0.5 exonic rs77137413 USH1C AR synonymous SNV NM_005709 exon8 c.G648A p.L216L 0.00299521 0.0119 0.0013 0.0171 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000041300.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 11_17548015_C->T 11 17548015 17548015 C T snp 3012.77 0/1 99 243 116 127 0.52 intronic rs6486378 USH1C AR NM_005709 exon14 c.32078+27C>T 0.334665 0.506 0.295549 0.3232 0.5134 Uncertain 11_17548402_G->- 11 17548402 17548402 G - indel 3349.73 0/1 99 161 74 87 0.54 intronic rs5789990 USH1C AR NM_005709 exon15 c.32447+45delG 0.341254 0.5119 0.311821 0.3290 0.5065 Uncertain 11_17548737_T->C 11 17548737 17548737 T C snp 441.77 1/1 36 15 0 15 1.0 intronic rs12795083 USH1C AR NM_005709 exon17 c.32859-32T>C 0.9248 0.9559 Uncertain 11_17553105_G->A 11 17553105 17553105 G A snp 619.77 0/1 99 63 36 27 0.43 intronic rs2041027 USH1C AR NM_005709 exon19 c.37179+16G>A 0.417732 0.5228 0.411751 0.4193 0.5083 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000041247.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 11_17554910_-->CC 11 17554910 17554910 - CC indel 501.73 0/1 99 64 43 21 0.33 intronic rs544692777 USH1C AR NM_005709 exon20 c.38959+41insCC 0.00119808 0.1685 0.1233 Uncertain 11_17554914_G->C 11 17554914 17554914 G C snp 365.77 0/1 99 64 43 21 0.33 intronic rs2240489 USH1C AR NM_005709 exon20 c.38959+45G>C 0.609625 0.5913 0.5326 0.5291 Uncertain 11_17554930_T->C 11 17554930 17554930 T C snp 345.77 0/1 99 55 37 18 0.33 intronic rs878546 USH1C AR NM_005709 exon20 c.38959+61T>C 0.461062 0.5248 Uncertain 11_17555498_C->A 11 17555498 17555498 C A snp 431.77 0/1 99 28 14 14 0.5 intronic rs11024319 USH1C AR NM_005709 exon20 c.38959+629C>A 0.457069 0.5139 Uncertain 11_17573329_G->A 11 17573329 17573329 G A snp 41.77 0/1 70 5 2 3 0.6 intronic rs10766410 OTOG AR NM_001292063 exon4 c.4627-217G>A 0.417732 0.5635 Uncertain 11_17574588_T->C 11 17574588 17574588 T C snp 2018.77 0/1 99 178 101 77 0.43 intronic rs4757543 OTOG AR NM_001292063 exon5 c.5746-77T>C 0.665535 0.4663 Uncertain 11_17582470_T->C 11 17582470 17582470 T C snp 1841.77 1/1 99 61 0 61 1.0 intronic rs1990180 OTOG AR NM_001292063 exon13 c.13445+106T>C 0.9998 1 Uncertain 11_17591961_C->T 11 17591961 17591961 C T snp 822.77 0/1 99 67 31 36 0.54 intronic rs10832802 OTOG AR NM_001292063 exon17 c.23018+24C>T 0.343251 0.2867 0.4011 0.2890 Uncertain 11_17593709_T->C 11 17593709 17593709 T C snp 1289.77 0/1 99 122 65 57 0.47 exonic rs7106548 OTOG AR nonsynonymous SNV NM_001277269 exon17 c.T2074C p.S692P 0.440895 0.3204 0.4163 0.3265 0.35 T 0.0 P -0.984 T Pathogenic 11_17594513_A->T 11 17594513 17594513 A T snp 689.77 0/1 99 37 12 25 0.68 intronic rs1076312 OTOG AR NM_001292063 exon19 c.25705-111A>T 0.488618 0.4028 Uncertain 11_17594897_C->T 11 17594897 17594897 C T snp 135.03 1/1 12 4 0 4 1.0 intronic rs757986 OTOG AR NM_001292063 exon19 c.25918+60C>T 0.355232 0.3234 Uncertain 11_17594912_G->C 11 17594912 17594912 G C snp 88.28 1/1 9 3 0 3 1.0 intronic rs757987 OTOG AR NM_001292063 exon19 c.25918+75G>C 0.395367 0.3224 Uncertain 11_17596313_G->A 11 17596313 17596313 G A snp 2158.77 0/1 99 221 124 97 0.44 exonic rs4757548 OTOG AR synonymous SNV NM_001277269 exon19 c.G2376A p.P792P 0.333866 0.2986 0.3552 0.31 Uncertain 11_17598187_G->A 11 17598187 17598187 G A snp 1949.77 0/1 99 170 88 82 0.48 intronic rs4756901 OTOG AR NM_001292063 exon21 c.29258+10G>A 0.296925 0.3115 0.3448 0.3228 Uncertain 11_17598191_G->A 11 17598191 17598191 G A snp 1959.77 0/1 99 166 84 82 0.49 intronic rs4756902 OTOG AR NM_001292063 exon21 c.29258+14G>A 0.338458 0.3125 0.3520 0.3214 Uncertain 11_17600033_G->A 11 17600033 17600033 G A snp 1480.77 0/1 99 134 70 64 0.48 exonic rs2355466 OTOG AR nonsynonymous SNV NM_001277269 exon22 c.G2755A p.A919T 0.276158 0.2579 0.3586 0.3064 0.6 T 0.782 P -0.923 T Pathogenic 11_17627613_G->C 11 17627613 17627613 G C snp 907.77 0/1 99 70 37 33 0.47 exonic rs7934079 OTOG AR nonsynonymous SNV NM_001277269 exon32 c.G4123C p.A1375P 0.826078 0.8294 0.7680 0.8333 0.24 T 0.0 P -1.018 T 0.001 T 0.0 T Pathogenic 11_17656686_C->T 11 17656686 17656686 C T snp 1255.77 0/1 99 116 57 59 0.51 exonic rs11024350 OTOG AR synonymous SNV NM_001277269 exon45 c.C7681T p.L2561L 0.146166 0.244 0.1664 0.2743 Uncertain 11_17663742_G->C 11 17663742 17663742 G C snp 1094.77 0/1 99 100 52 48 0.48 exonic rs2023483 OTOG AR synonymous SNV NM_001277269 exon52 c.G8400C p.L2800L 0.366214 0.1835 0.3567 0.2107 Uncertain 11_17663862_A->G 11 17663862 17663862 A G snp 1033.77 0/1 99 69 31 38 0.55 intronic rs2023484 OTOG AR NM_001292063 exon53 c.94874+69A>G 0.251997 0.0556 Uncertain 11_17742681_G->C 11 17742681 17742681 G C snp 3150.77 1/1 99 106 0 106 1.0 intronic rs10832853 MYOD1 AU NM_002478 exon3 c.1472-120G>C 0.939497 0.9841 Uncertain 11_17800923_C->A 11 17800923 17800923 C A snp 414.77 0/1 99 28 13 15 0.54 intronic rs61882396 KCNC1 AD NM_001112741 exon3 c.43453-79C>A 0.135583 0.2073 Uncertain 11_17800957_T->C 11 17800957 17800957 T C snp 589.77 0/1 99 43 19 24 0.56 intronic KCNC1 AD NM_001112741 exon3 c.43453-45T>C Uncertain 11_17940198_C->T 11 17940198 17940198 C T snp 378.77 0/1 99 56 40 16 0.29 intronic rs55745116 SERGEF AU NM_012139 exon2 c.90160+40407C>T Uncertain 11_17940209_A->T 11 17940209 17940209 A T snp 557.77 0/1 99 72 47 25 0.35 intronic rs7479092 SERGEF AU NM_012139 exon2 c.90160+40418A>T Uncertain 11_17981047_C->T 11 17981047 17981047 C T snp 2459.77 1/1 99 86 0 86 1.0 exonic rs211146 SERGEF AU synonymous SNV NM_012139 exon9 c.G981A p.S327S 0.688498 0.4881 0.698830 0.6106 0.4912 0.000 P -1.040 T Likely benign 11_18017517_T->C 11 18017517 18017517 T C snp 1590.77 0/1 99 98 35 63 0.64 intronic rs211131 SERGEF AU NM_012139 exon6 c.207825+61T>C 0.541134 0.4048 Uncertain 11_18017631_A->C 11 18017631 18017631 A C snp 202.77 0/1 60 11 2 9 0.82 intronic rs490386 SERGEF AU NM_012139 exon6 c.207825+175A>C 0.284345 0.2192 Uncertain 11_18023414_C->T 11 18023414 18023414 C T snp 452.77 0/1 99 47 28 19 0.4 intronic rs211134 SERGEF AU NM_012139 exon7 c.212473+1310C>T 0.85004 0.9147 Uncertain 11_18034592_G->C 11 18034592 18034592 G C snp 163.77 0/1 99 15 7 8 0.53 UTR5 rs3741202 SERGEF AU 0.45607 0.6131 0.6264 . Uncertain 11_18034605_C->G 11 18034605 18034605 C G snp 160.77 0/1 99 15 7 8 0.53 UTR5 rs3741201 SERGEF AU 0.454673 0.6131 0.6667 . Uncertain 11_18044304_C->T 11 18044304 18044304 C T snp 2785.77 1/1 99 106 0 106 1.0 intronic rs211101 TPH1 AU NM_004179 exon2 c.1807-40C>T 1 1 1.0000 1 Uncertain 11_18159169_A->G 11 18159169 18159169 A G snp 4978.77 1/1 99 160 0 160 1.0 exonic rs2468839 MRGPRX3 AU synonymous SNV NM_054031 exon3 c.A420G p.S140S 0.954473 1 0.950485 0.9860 0.9976 Uncertain 11_18159254_A->G 11 18159254 18159254 A G snp 6958.77 1/1 99 250 0 250 1.0 exonic rs4274188 MRGPRX3 AU nonsynonymous SNV NM_054031 exon3 c.A505G p.N169D 0.743011 0.874 0.704220 0.7697 0.8758 1 T 0.0 P -0.975 T 0.0 T 0.001 T Pathogenic 11_18194793_G->A 11 18194793 18194793 G A snp 3112.77 0/1 99 250 118 132 0.53 UTR5 rs11024530 MRGPRX4 AU 0.26877 0.505 0.209258 0.2857 0.5260 Uncertain 11_18194827_C->G 11 18194827 18194827 C G snp 2721.77 0/1 99 250 139 111 0.44 exonic rs2468774 MRGPRX4 AU nonsynonymous SNV NM_054032 exon1 c.C24G p.F8L 0.330272 0.4395 0.271796 0.3077 0.4346 0.72 T 0.0 P -0.928 T 0.0 T 0.0 T Pathogenic 11_18194878_T->G 11 18194878 18194878 T G snp 2683.77 0/1 99 247 134 113 0.46 exonic rs2445180 MRGPRX4 AU nonsynonymous SNV NM_054032 exon1 c.T75G p.N25K 0.330272 0.4375 0.271873 0.3027 0.4335 0.94 T 0.0 P -1.021 T 0.0 T 0.0 T Pathogenic 11_18194944_T->A 11 18194944 18194944 T A snp 2805.77 0/1 99 211 102 109 0.52 exonic rs11024531 MRGPRX4 AU synonymous SNV NM_054032 exon1 c.T141A p.V47V 0.274361 0.504 0.214495 0.2824 0.5260 Uncertain 11_18194964_A->G 11 18194964 18194964 A G snp 2990.77 0/1 99 231 115 116 0.5 exonic rs1869788 MRGPRX4 AU nonsynonymous SNV NM_054032 exon1 c.A161G p.Y54C 0.368411 0.4415 0.314849 0.3154 0.4344 0.05 T 0.0 P -0.928 T 0.0 T 0.0 T Pathogenic 11_18195051_T->C 11 18195051 18195051 T C snp 7384.77 1/1 99 250 0 250 1.0 exonic rs2445179 MRGPRX4 AU nonsynonymous SNV NM_054032 exon1 c.T248C p.L83S 0.965655 1 0.965496 0.9904 1 0.45 T 0.0 P -1.036 T 0.0 T 0.001 T Pathogenic 11_18195448_C->T 11 18195448 18195448 C T snp 1689.77 0/1 99 122 59 63 0.52 exonic rs4630269 MRGPRX4 AU synonymous SNV NM_054032 exon1 c.C645T p.Y215Y 0.330072 0.4415 0.271411 0.3008 0.4324 Uncertain 11_18210480_T->C 11 18210480 18210480 T C snp 3320.77 1/1 99 126 0 126 1.0 intergenic rs2445150 MRGPRX4 AU 0.919728 1 0.9782 1 Uncertain 11_18210580_C->T 11 18210580 18210580 C T snp 1089.77 0/1 99 94 49 45 0.48 intergenic rs2124372 MRGPRX4 AU 0.466454 0.5387 0.5731 0.5576 0 D -0.935 T Uncertain 11_18231188_-->A 11 18231188 18231188 - A indel 382.74 1/1 29 24 2 22 0.92 ncRNA_exonic rs397762059 LOC494141 AU 0.408347 0.6062 0.4182 0.5578 Uncertain 11_18231749_T->G 11 18231749 18231749 T G snp 356.89 1/1 2 12 1 11 0.92 ncRNA_exonic rs2468789 LOC494141 AU 0.880391 0.8968 Uncertain 11_18253176_C->T 11 18253176 18253176 C T snp 2969.77 1/1 99 112 0 112 1.0 exonic rs2460827 SAA2-SAA4 AU nonsynonymous SNV NM_006512 exon4 c.G266A p.C89Y 0.880591 0.8948 0.895256 0.9471 0.9020 1 T 0.0 P -1.018 T 0.0 T 0.0 T ID=CM1414793;DIS=AA amyloidosis;TAG=DM?;PUB=24650283 DM? Pathogenic 11_18267027_C->T 11 18267027 18267027 C T snp 5918.77 1/1 99 222 0 222 1.0 exonic rs2468844 SAA2 AU nonsynonymous SNV NM_030754 exon4 c.G266A p.R89H 0.770966 0.9276 0.799908 0.8314 0.9345 0.63 T 0.0 P -1.062 T ID=CM1010098;DIS=Carotid intima media thickness, association with;TAG=DP;PUB=21103356 DP Pathogenic 11_18267112_A->G 11 18267112 18267112 A G snp 2113.77 0/1 99 192 99 93 0.48 intronic rs2445173 SAA2 AU NM_030754 exon1 c.139+50A>G 0.444888 0.7887 0.367221 0.3915 0.8312 Uncertain 11_18267353_A->G 11 18267353 18267353 A G snp 164.77 0/1 99 22 9 13 0.59 intronic rs2445172 SAA2 AU NM_001127380 exon2 c.5962-103A>G 0.428115 0.7857 Uncertain 11_18267356_A->G 11 18267356 18267356 A G snp 224.77 0/1 99 26 11 15 0.58 intronic rs2445171 SAA2 AU NM_001127380 exon2 c.5962-100A>G 0.438498 0.7907 Uncertain 11_18267373_C->T 11 18267373 18267373 C T snp 1022.77 0/1 99 61 26 35 0.57 intronic rs1671927 SAA2 AU NM_001127380 exon2 c.5962-83C>T Uncertain 11_18267431_C->T 11 18267431 18267431 C T snp 483.77 0/1 99 193 159 34 0.18 intronic rs76546965 SAA2 AU NM_001127380 exon2 c.5962-25C>T 0.35004 0.4206 0.3947 0.4610 Uncertain 11_18267434_A->G 11 18267434 18267434 A G snp 454.77 0/1 99 196 162 34 0.17 intronic rs78891342 SAA2 AU NM_001127380 exon2 c.5962-22A>G 0.35004 0.4206 0.3960 0.4622 Uncertain 11_18267435_A->G 11 18267435 18267435 A G snp 457.77 0/1 99 199 165 34 0.17 intronic rs75350417 SAA2 AU NM_001127380 exon2 c.5962-21A>G 0.35004 0.4206 0.3959 0.4615 Uncertain 11_18267463_A->G 11 18267463 18267463 A G snp 720.77 0/1 99 250 194 56 0.22 exonic rs74872559 SAA2 AU nonsynonymous SNV NM_001199744 exon3 c.T224C p.V75A 0.3848 0.4119 0.05 T 0.594 N -1.077 T 0.236 T 0.138 T Pathogenic 11_18267471_A->G 11 18267471 18267471 A G snp 3090.77 0/1 99 250 106 144 0.58 exonic rs1136766 SAA2 AU synonymous SNV NM_001199744 exon3 c.T216C p.A72A 0.459181 0.4797 0.4923 Uncertain 11_18267651_A->C 11 18267651 18267651 A C snp 1274.77 1/1 45 57 6 51 0.89 intronic rs1671923 SAA2 AU NM_001127380 exon2 c.6101+56A>C 0.565096 0.6567 Uncertain 11_18267702_T->A 11 18267702 18267702 T A snp 376.77 0/1 99 21 10 11 0.52 intronic rs4757631 SAA2 AU NM_001127380 exon2 c.6101+107T>A 0.487819 0.3403 Uncertain 11_18290874_T->C 11 18290874 18290874 T C snp 160.77 0/1 99 37 27 10 0.27 exonic rs1136747 SAA1 AU nonsynonymous SNV NM_000331 exon3 c.T224C p.V75A 0.5412 0.4594 0.05 T 0.000 P -0.890 T 0.998 D 0.994 D Pathogenic 11_18290880_C->G 11 18290880 18290880 C G snp 849.77 1/1 63 38 0 38 1.0 splicing rs1671926 SAA1 AU NM_001178006 exon4 c.2444+2C>G 0.992812 1 0.9822 0.9919 1 T 0.000 P -0.965 T Pathogenic 11_18290902_T->C 11 18290902 18290902 T C snp 124.77 0/1 99 38 26 12 0.32 intronic rs34068567 SAA1 AU NM_001178006 exon4 c.2444+24T>C 0.635583 0.6181 0.5660 0.5275 Uncertain 11_18290903_T->C 11 18290903 18290903 T C snp 156.77 0/1 99 37 26 11 0.3 intronic rs35179000 SAA1 AU NM_001178006 exon4 c.2444+25T>C 0.635583 0.6181 0.5687 0.5267 Uncertain 11_18290906_G->A 11 18290906 18290906 G A snp 144.77 0/1 99 37 26 11 0.3 intronic rs35474820 SAA1 AU NM_001178006 exon4 c.2444+28G>A 0.635583 0.6181 0.5752 0.5269 Uncertain 11_18307045_T->C 11 18307045 18307045 T C snp 1108.77 0/1 99 84 40 44 0.52 intronic rs77099432 HPS5 AU NM_181507 exon4 c.5578+39T>C 0.0994409 0.256 0.030619 0.0657 0.2891 Uncertain 11_18312953_G->A 11 18312953 18312953 G A snp 1259.77 1/1 90 40 0 40 1.0 intronic rs4757638 HPS5 AU NM_181507 exon8 c.11560-35G>A 0.65016 0.8482 0.576501 0.6116 0.8444 Uncertain 11_18314579_-->TT 11 18314579 18314579 - TT indel 2388.73 1/1 99 77 0 77 1.0 intronic rs10665418 HPS5 AU NM_181507 exon9 c.13095+56insTT 0.805112 0.9722 Uncertain 11_18317458_T->A 11 18317458 18317458 T A snp 549.77 0/1 99 34 14 20 0.59 intronic rs2305564 HPS5 AU NM_181507 exon11 c.16117-87T>A 0.483626 0.5933 Uncertain 11_18317699_C->T 11 18317699 18317699 C T snp 1543.77 1/1 99 50 0 50 1.0 intronic rs2305565 HPS5 AU NM_181507 exon11 c.16241+30C>T 0.65016 0.8482 0.578943 0.5914 0.8461 Uncertain 11_18322545_G->T 11 18322545 18322545 G T snp 885.77 0/1 99 72 31 41 0.57 intronic rs80237195 HPS5 AU NM_181507 exon15 c.21035+82G>T 0.0984425 0.255 Uncertain 11_18327684_G->T 11 18327684 18327684 G T snp 1204.77 1/1 87 40 0 40 1.0 exonic rs1140047 HPS5 AU synonymous SNV NM_181507 exon7 c.C822A p.L274L 0.804712 0.9722 0.712261 0.7290 0.9748 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000150827.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 11_18330385_-->A 11 18330385 18330385 - A indel 1484.73 1/1 99 50 0 50 1.0 intronic rs35952141 HPS5 AU NM_181507 exon18 c.29064-107insA 0.804912 0.9722 Uncertain 11_18333042_-->ATT 11 18333042 18333042 - ATT indel 550.73 1/1 42 23 0 23 1.0 intronic rs59102347 HPS5 AU NM_181507 exon20 c.31570+44insATT 0.398229 0.0133 0.0149 Uncertain 11_18333061_T->A 11 18333061 18333061 T A snp 69.77 0/1 98 13 8 5 0.38 intronic rs11024618 HPS5 AU NM_181507 exon20 c.31570+63T>A Uncertain 11_18333436_A->T 11 18333436 18333436 A T snp 1256.77 0/1 99 128 76 52 0.41 intronic rs78237997 HPS5 AU NM_181507 exon21 c.32032-24A>T 0.0990415 0.252 0.031885 0.0622 0.2735 Uncertain 11_18354877_T->C 11 18354877 18354877 T C snp 185.9 1/1 15 6 0 6 1.0 intronic rs4150561 GTF2H1 AU NM_001142307 exon3 c.154+102T>C 0.804912 0.9702 Uncertain 11_18357180_A->G 11 18357180 18357180 A G snp 1245.77 1/1 93 37 0 37 1.0 intronic rs4150579 GTF2H1 AU NM_001142307 exon4 c.2679-120A>G 0.670527 0.9633 Uncertain 11_18357270_A->G 11 18357270 18357270 A G snp 1599.77 0/1 99 142 72 70 0.49 intronic rs4150581 GTF2H1 AU NM_001142307 exon4 c.2679-30A>G 0.392971 0.5873 0.406423 0.4740 0.5710 Uncertain 11_18379629_C->A 11 18379629 18379629 C A snp 3870.77 1/1 99 142 0 142 1.0 intronic rs4150661 GTF2H1 AU NM_001142307 exon13 c.24968+40C>A 0.688299 0.9633 0.620610 0.6915 0.9698 Uncertain 11_18418719_C->T 11 18418719 18418719 C T snp 384.77 1/1 30 10 0 10 1.0 intronic rs4274186 LDHA AR NM_001165415 exon2 c.126+204C>T 0.634185 0.6448 Uncertain 11_18424223_G->C 11 18424223 18424223 G C snp 216.84 1/1 18 6 0 6 1.0 intronic rs10832932 LDHA AR NM_001165415 exon5 c.5997-163G>C 0.634784 0.6478 Uncertain 11_18424451_C->T 11 18424451 18424451 C T snp 3152.77 1/1 99 121 0 121 1.0 exonic rs4687 LDHA AR synonymous SNV NM_005566 exon5 c.C483T p.S161S 0.634585 0.6478 0.632280 0.6978 0.6576 Uncertain 11_18424487_A->G 11 18424487 18424487 A G snp 2659.77 1/1 99 101 0 101 1.0 exonic rs4820 LDHA AR synonymous SNV NM_005566 exon5 c.A519G p.L173L 0.634585 0.6478 0.629801 0.6977 0.6568 Uncertain 11_18424590_T->A 11 18424590 18424590 T A snp 1378.77 1/1 99 48 0 48 1.0 intronic rs3758680 LDHA AR NM_001165415 exon5 c.6171+30T>A 0.634784 0.6478 0.627788 0.7014 0.6615 Uncertain 11_18426656_A->T 11 18426656 18426656 A T snp 206.84 1/1 18 6 0 6 1.0 intronic rs6486424 LDHA AR NM_001165414 exon7 c.8901-339A>T 0.498203 0.5794 Uncertain 11_18426796_T->G 11 18426796 18426796 T G snp 1498.77 1/1 99 61 0 61 1.0 intronic rs6486425 LDHA AR NM_001165414 exon7 c.8901-199T>G 0.635383 0.6488 Uncertain 11_18427317_A->G 11 18427317 18427317 A G snp 54.74 1/1 6 2 0 2 1.0 intronic rs3781641 LDHA AR NM_001165414 exon7 c.9025+198A>G 0.634984 0.6488 Uncertain 11_18428552_-->A 11 18428552 18428552 - A indel 168.77 1/1 21 7 0 7 1.0 intronic rs397770558 LDHA AR NM_001165414 exon8 c.10569-111insA 0.631989 0.6458 Uncertain 11_18428637_-->TTT 11 18428637 18428637 - TTT indel 2788.73 ./1 99 89 0 89 1.0 intronic rs113340412 LDHA AR NM_001165414 exon8 c.10569-26insTTT 0.2587 0.2155 Uncertain 11_18428637_-->TTTT 11 18428637 18428637 - TTTT indel 2788.73 ./1 99 89 0 89 1.0 intronic rs113340412 LDHA AR NM_001165414 exon8 c.10569-26insTTTT 0.3432 0.3671 Uncertain 11_18434536_T->C 11 18434536 18434536 T C snp 250.8 1/1 21 7 0 7 1.0 intronic rs10766477 LDHC AU NM_002301 exon2 c.126+146T>C Uncertain 11_18456181_A->G 11 18456181 18456181 A G snp 90.28 1/1 9 3 0 3 1.0 intronic rs2721126 LDHC AU NM_002301 exon5 c.22022-105A>G 0.908546 0.9464 Uncertain 11_18456235_A->T 11 18456235 18456235 A T snp 948.77 1/1 69 30 0 30 1.0 intronic rs4757664 LDHC AU NM_002301 exon5 c.22022-51A>T 0.621406 0.6091 0.524335 Uncertain 11_18460308_C->T 11 18460308 18460308 C T snp 371.77 1/1 30 10 0 10 1.0 intronic rs2643856 LDHC AU NM_002301 exon6 c.25928+116C>T 0.907548 0.9464 Uncertain 11_18467821_T->C 11 18467821 18467821 T C snp 3108.77 1/1 99 116 0 116 1.0 exonic rs2658565 LDHC AU synonymous SNV NM_002301 exon7 c.T775C p.L259L 0.998802 1 0.998691 0.9997 1 Uncertain 11_18478112_-->AG 11 18478112 18478112 - AG indel 591.73 0/1 99 27 14 13 0.48 UTR5 rs3839960 LDHAL6A AU 0.363019 0.253 Uncertain 11_18487425_A->G 11 18487425 18487425 A G snp 2302.77 1/1 99 73 0 73 1.0 intronic rs2658563 LDHAL6A AU NM_144972 exon3 c.9130+68A>G 0.756589 0.8681 Uncertain 11_18502018_T->C 11 18502018 18502018 T C snp 604.77 0/1 99 43 18 25 0.58 UTR3 rs2291754 TSG101 AU 0.0117812 0.0585 Uncertain 11_18503159_C->T 11 18503159 18503159 C T snp 1789.77 0/1 99 133 53 80 0.6 intronic rs2279900 TSG101 AU NM_006292 exon2 c.1084-17C>T 0.25639 0.4385 0.133934 0.2209 0.4145 Uncertain 11_18505632_G->A 11 18505632 18505632 G A snp 381.77 0/1 99 35 21 14 0.4 intronic rs2279902 TSG101 AU NM_006292 exon3 c.3527+13G>A 0.161741 0.2351 0.092421 0.1569 0.2222 Uncertain 11_18531028_C->A 11 18531028 18531028 C A snp 193.77 0/1 99 13 5 8 0.62 intronic rs2292176 TSG101 AU NM_006292 exon6 c.28996-60C>A 0.216653 0.2212 Uncertain 11_18536215_G->T 11 18536215 18536215 G T snp 601.77 0/1 99 50 25 25 0.5 intronic rs12574333 TSG101 AU NM_006292 exon7 c.34132-9G>T 0.258586 0.4385 0.138872 0.2250 0.4152 Uncertain 11_18537800_C->T 11 18537800 18537800 C T snp 483.77 1/1 36 15 0 15 1.0 intronic rs7942548 TSG101 AU NM_006292 exon8 c.35619+89C>T 0.491214 0.7371 Uncertain 11_18537801_A->G 11 18537801 18537801 A G snp 443.77 1/1 33 14 0 14 1.0 intronic rs7928872 TSG101 AU NM_006292 exon8 c.35619+90A>G 0.491214 0.7371 Uncertain 11_18537815_G->C 11 18537815 18537815 G C snp 46.77 0/1 75 7 4 3 0.43 intronic rs58515919 TSG101 AU NM_006292 exon8 c.35619+104G>C 0.0848642 0.1885 Uncertain 11_18548183_T->G 11 18548183 18548183 T G snp 547.77 1/1 42 14 0 14 1.0 intronic rs1395319 TSG101 AU NM_006292 exon10 c.46229-138T>G 0.477636 0.6687 Uncertain 11_18548195_C->G 11 18548195 18548195 C G snp 687.77 1/1 54 18 0 18 1.0 intronic rs1395320 TSG101 AU NM_006292 exon10 c.46229-126C>G 0.476837 0.6687 Uncertain 11_18548546_A->G 11 18548546 18548546 A G snp 981.77 0/1 99 73 38 35 0.48 upstream rs2292179 TSG101 AU 0.160942 0.2351 Uncertain 11_18548574_T->C 11 18548574 18548574 T C snp 1166.77 1/1 84 39 0 39 1.0 upstream rs1857908 TSG101 AU 0.989617 1 Uncertain 11_18555901_C->G 11 18555901 18555901 C G snp 608.77 0/1 99 51 28 23 0.45 exonic rs56151250 UEVLD AU synonymous SNV NM_001261384 exon9 c.G834C p.V278V 0.251997 0.4415 0.128015 0.2174 0.4180 Uncertain 11_18555949_T->C 11 18555949 18555949 T C snp 808.77 0/1 99 83 47 36 0.43 exonic rs55999230 UEVLD AU synonymous SNV NM_001261384 exon9 c.A786G p.L262L 0.251997 0.4415 0.128531 0.2165 0.4207 Uncertain 11_18557650_C->G 11 18557650 18557650 C G snp 507.77 0/1 99 46 23 23 0.5 intronic rs56104322 UEVLD AU NM_018314 exon2 c.3934-302C>G 0.221845 0.2272 Uncertain 11_18566021_-->T 11 18566021 18566021 - T indel 114.82 0/1 17 6 1 5 0.83 intronic rs3837379 UEVLD AU NM_018314 exon3 c.12151-148insT 0.251797 0.4405 Uncertain 11_18586344_-->AT 11 18586344 18586344 - AT indel 3287.73 1/1 99 60 0 60 1.0 intronic rs3832729 UEVLD AU NM_018314 exon6 c.32420-94insAT 0.501597 0.6617 Uncertain 11_18591645_A->G 11 18591645 18591645 A G snp 74.77 0/1 67 5 2 3 0.6 intronic rs2305166 UEVLD AU NM_018314 exon8 c.37742-115A>G 0.271965 0.4335 Uncertain 11_18591715_-->A 11 18591715 18591715 - A indel 484.73 0/1 99 37 9 28 0.76 intronic rs11445836 UEVLD AU NM_018314 exon8 c.37742-45insA 0.333666 0.3948 0.2730 0.3581 Uncertain 11_18600322_T->G 11 18600322 18600322 T G snp 841.77 0/1 99 90 51 39 0.43 exonic rs10500835 UEVLD AU synonymous SNV NM_001040697 exon2 c.A76C p.R26R 0.164137 0.2579 0.090958 0.1552 0.2484 Uncertain 11_18610041_C->T 11 18610041 18610041 C T snp 185.77 0/1 99 27 17 10 0.37 intronic rs61884724 UEVLD AU NM_018314 exon11 c.56141-118C>T 0.163339 0.256 Uncertain 11_18628418_T->C 11 18628418 18628418 T C snp 175.77 0/1 99 11 4 7 0.64 ncRNA_intronic rs17579600 SPTY2D1-AS1 AU 0.0483227 0.0794 Uncertain 11_18632984_T->C 11 18632984 18632984 T C snp 2011.77 0/1 99 206 109 97 0.47 intronic rs10128711 SPTY2D1 AU NM_194285 exon2 c.1616-39T>C 0.46905 0.4911 0.558851 0.6354 0.5 Uncertain 11_18633971_G->A 11 18633971 18633971 G A snp 1638.77 0/1 99 140 66 74 0.53 exonic rs11605097 SPTY2D1 AU synonymous SNV NM_194285 exon4 c.C1776T p.D592D 0.308307 0.3472 0.351201 0.4153 0.3733 Uncertain 11_18638280_AC->- 11 18638280 18638281 AC - indel 155.87 1/1 15 5 0 5 1.0 intronic rs72301459 SPTY2D1 AU NM_194285 exon5 c.7014-141_7014-140delAC 0.911941 0.9563 Uncertain 11_18638712_A->T 11 18638712 18638712 A T snp 54.74 1/1 6 2 0 2 1.0 intronic rs10500834 SPTY2D1 AU NM_194285 exon5 c.7129+176A>T 0.46865 0.4911 Uncertain 11_18720304_C->G 11 18720304 18720304 C G snp 735.77 1/1 54 23 0 23 1.0 UTR5 rs7946446 TMEM86A AU 0.967452 1 Uncertain 11_18722903_T->C 11 18722903 18722903 T C snp 174.9 1/1 15 5 0 5 1.0 intronic rs59226968 TMEM86A AU NM_153347 exon2 c.2311+159T>C 0.316494 0.3879 Uncertain 11_18729237_T->C 11 18729237 18729237 T C snp 56.74 1/1 6 2 0 2 1.0 intronic rs11024767 IGSF22 AU NM_173588 exon4 c.3336-113T>C 0.18131 0.3353 Uncertain 11_18730895_A->G 11 18730895 18730895 A G snp 862.77 1/1 66 24 0 24 1.0 intronic rs11024768 IGSF22 AU NM_173588 exon6 c.4919-38A>G 0.61861 0.7599 0.637911 0.6835 0.7609 Uncertain 11_18732119_T->G 11 18732119 18732119 T G snp 480.77 1/1 39 13 0 13 1.0 intronic rs4237727 IGSF22 AU NM_173588 exon8 c.6187-82T>G 0.996006 1 Uncertain 11_18732426_T->G 11 18732426 18732426 T G snp 2297.77 1/1 99 77 0 77 1.0 intronic rs4237728 IGSF22 AU NM_173588 exon8 c.6361+51T>G 0.996006 1 0.993771 0.9983 1 Uncertain 11_18733521_C->T 11 18733521 18733521 C T snp 559.77 1/1 42 16 0 16 1.0 intronic rs7128042 IGSF22 AU NM_173588 exon9 c.7614-107C>T 0.704872 0.8115 Uncertain 11_18733579_T->C 11 18733579 18733579 T C snp 1303.77 1/1 93 46 0 46 1.0 intronic rs10832972 IGSF22 AU NM_173588 exon9 c.7614-49T>C 0.704673 0.8115 0.713973 0.7017 0.8248 Uncertain 11_18735321_A->C 11 18735321 18735321 A C snp 793.77 1/1 60 22 0 22 1.0 intronic rs10766493 IGSF22 AU NM_173588 exon10 c.9384-77A>C 0.75639 0.8125 Uncertain 11_18735396_G->T 11 18735396 18735396 G T snp 2924.77 1/1 99 95 0 95 1.0 splicing rs10741752 IGSF22 AU NM_173588 exon10 c.9384-2G>T 0.75639 0.8125 0.775723 0.7541 0.8225 Pathogenic 11_18735753_G->A 11 18735753 18735753 G A snp 4971.77 1/1 99 174 0 174 1.0 intronic rs7106673 IGSF22 AU NM_173588 exon10 c.9681+58G>A 0.754393 0.8115 Uncertain 11_18735947_T->C 11 18735947 18735947 T C snp 6596.77 1/1 99 200 0 200 1.0 exonic rs7125943 IGSF22 AU nonsynonymous SNV NM_173588 exon13 c.A1675G p.M559V 0.75619 0.8125 0.771301 0.7413 0.8187 0.61 T 0.0 P -1.012 T 0.0 T 0.0 T Pathogenic 11_18736247_G->A 11 18736247 18736247 G A snp 1794.77 1/1 99 48 0 48 1.0 intronic rs4265581 IGSF22 AU NM_173588 exon12 c.10157+76G>A 0.752596 0.8115 Uncertain 11_18736877_A->G 11 18736877 18736877 A G snp 54.74 1/1 6 2 0 2 1.0 intronic rs4993024 IGSF22 AU NM_173588 exon13 c.10964-101A>G 0.747404 0.8135 Uncertain 11_18736942_G->A 11 18736942 18736942 G A snp 883.77 1/1 66 28 0 28 1.0 intronic rs3887900 IGSF22 AU NM_173588 exon13 c.10964-36G>A 0.61881 0.748 0.633397 0.6796 0.7492 Uncertain 11_18737095_C->T 11 18737095 18737095 C T snp 3214.74 1/1 99 114 0 114 1.0 exonic rs4424652 IGSF22 AU nonsynonymous SNV NM_173588 exon11 c.G1415A p.R472Q 0.749401 0.8125 0.757632 0.7349 0.8183 0.26 T 0.000 P -0.986 T 0.469 P 0.035 P Pathogenic 11_18738281_C->T 11 18738281 18738281 C T snp 1978.77 1/1 99 57 0 57 1.0 exonic rs10766494 IGSF22 AU nonsynonymous SNV NM_173588 exon10 c.G1240A p.V414I 0.749002 0.8125 0.760475 0.7349 0.8187 0.19 T 0.0 P -1.007 T 0.0 T 0.001 T Pathogenic 11_18738603_G->A 11 18738603 18738603 G A snp 2070.77 1/1 99 64 0 64 1.0 intronic rs10766495 IGSF22 AU NM_173588 exon14 c.12533+56G>A 0.7498 0.8125 Uncertain 11_18739358_A->G 11 18739358 18739358 A G snp 54.74 1/1 6 2 0 2 1.0 intronic rs4561190 IGSF22 AU NM_173588 exon15 c.13463-119A>G 0.884784 0.9395 Uncertain 11_18741165_C->T 11 18741165 18741165 C T snp 104.77 0/1 99 12 8 4 0.33 intronic rs12418990 IGSF22 AU NM_173588 exon17 c.15248-97C>T 0.200879 0.1925 Uncertain 11_18741847_G->C 11 18741847 18741847 G C snp 505.77 0/1 99 41 20 21 0.51 intronic rs11024770 IGSF22 AU NM_173588 exon19 c.15818+15G>C 0.171526 0.1944 0.159131 0.2110 0.1908 Uncertain 11_18743091_G->A 11 18743091 18743091 G A snp 3541.77 0/1 99 250 118 132 0.53 exonic rs76507217 IGSF22 AU synonymous SNV NM_173588 exon4 c.C369T p.H123H 0.0415335 0.1607 0.005497 0.0257 0.1634 Uncertain 11_18743180_C->G 11 18743180 18743180 C G snp 2630.77 0/1 99 237 128 109 0.46 exonic rs10832975 IGSF22 AU nonsynonymous SNV NM_173588 exon4 c.G280C p.A94P 0.360024 0.3224 0.336452 0.4102 0.3197 1 T 0.000 P -0.895 T 0.0 T 0.0 T Pathogenic 11_18743286_G->T 11 18743286 18743286 G T snp 985.77 0/1 99 56 21 35 0.63 intronic rs74469339 IGSF22 AU NM_173588 exon20 c.17204+68G>T 0.138978 0.2976 Uncertain 11_18751041_C->T 11 18751041 18751041 C T snp 1168.77 1/1 84 44 0 44 1.0 exonic rs1550870 PTPN5 AU synonymous SNV NM_001278238 exon13 c.G1491A p.V497V 0.317492 0.2619 0.412431 0.3992 0.2781 Uncertain 11_18763698_A->G 11 18763698 18763698 A G snp 808.77 1/1 60 26 0 26 1.0 intronic rs4757706 PTPN5 AU NM_001278238 exon9 c.13328-110A>G 0.951078 1 Uncertain 11_18770822_T->C 11 18770822 18770822 T C snp 2729.77 1/1 99 90 0 90 1.0 intronic rs921082 PTPN5 AU NM_001278238 exon12 c.15266+5076T>C 0.355232 0.4236 Uncertain 11_18771041_G->C 11 18771041 18771041 G C snp 2202.77 1/1 99 80 1 79 0.99 intronic rs2028897 PTPN5 AU NM_001278238 exon12 c.15266+5295G>C 0.705671 0.8056 0.7256 0.7983 Uncertain 11_18793702_T->- 11 18793702 18793702 T - indel 454.73 0/1 99 27 12 15 0.56 intronic PTPN5 AU NM_006906 exon14 c.43138+84delT Uncertain 11_18885067_C->T 11 18885067 18885067 C T snp 1273.77 0/1 99 134 78 56 0.42 intergenic rs36002518 PTPN5 AU 0.103235 0.2044 Uncertain 11_18956194_T->C 11 18956194 18956194 T C snp 2950.77 1/1 99 104 2 102 0.98 exonic rs2014931 MRGPRX1 AU synonymous SNV NM_147199 exon1 c.A138G p.A46A 0.363219 0.3075 0.372010 0.3901 0.3235 Uncertain 11_18978456_G->A 11 18978456 18978456 G A snp 2506.77 0/1 99 160 67 93 0.58 intergenic rs7106147 MRGPRX1 AU 0.358826 0.5 Uncertain 11_18978501_C->A 11 18978501 18978501 C A snp 2409.77 0/1 99 250 141 109 0.44 intergenic rs12363322 MRGPRX1 AU 0.365216 0.3115 Uncertain 11_18994005_T->C 11 18994005 18994005 T C snp 3178.77 1/1 99 118 0 118 1.0 intergenic rs7114481 MRGPRX1 AU 0.966454 1 Uncertain 11_19167850_A->G 11 19167850 19167850 A G snp 1746.77 0/1 99 157 76 81 0.52 exonic rs2271001 ZDHHC13 AU nonsynonymous SNV NM_019028 exon3 c.A296G p.K99R 0.607628 0.7262 0.623099 0.6920 0.7246 0.46 T 1.0 P -0.967 T 0.023 T 0.066 T Pathogenic 11_19169319_-->CC 11 19169319 19169319 - CC indel 894.73 0/1 99 102 49 53 0.52 intronic rs146892489 ZDHHC13 AU NM_019028 exon4 c.30424+99insCC Uncertain 11_19186826_A->T 11 19186826 19186826 A T snp 114.77 0/1 99 8 4 4 0.5 intronic rs2042687 ZDHHC13 AU NM_019028 exon13 c.47896+134A>T 0.511781 0.5139 Uncertain 11_19188122_A->G 11 19188122 19188122 A G snp 182.77 0/1 99 12 6 6 0.5 intronic rs2242458 ZDHHC13 AU NM_019028 exon14 c.49136+190A>G 0.427716 0.4802 Uncertain 11_19191851_A->G 11 19191851 19191851 A G snp 150.77 0/1 99 10 5 5 0.5 intronic rs7114038 ZDHHC13 AU NM_019028 exon15 c.53161-106A>G 0.376997 0.4315 Uncertain 11_19194141_T->C 11 19194141 19194141 T C snp 556.77 1/1 42 16 0 16 1.0 intronic rs7111850 ZDHHC13 AU NM_019028 exon16 c.55473-128T>C 0.959665 1 Uncertain 11_19208070_C->A 11 19208070 19208070 C A snp 44.77 0/1 33 3 1 2 0.67 intronic rs1077688 CSRP3 AU,AD NM_003476 exon3 c.3679+175C>A 0.328275 0.504 Uncertain 11_19247590_C->T 11 19247590 19247590 C T snp 99.28 1/1 9 4 0 4 1.0 intronic rs793273 E2F8 AU NM_024680 exon3 c.1207+179C>T 0.804113 0.7768 Uncertain 11_19251826_G->A 11 19251826 19251826 G A snp 1102.77 0/1 99 104 53 51 0.49 exonic rs11821023 E2F8 AU synonymous SNV NM_001256371 exon9 c.C1320T p.L440L 0.103634 0.1687 0.106901 0.0945 0.1589 Uncertain 11_19251968_T->C 11 19251968 19251968 T C snp 536.77 0/1 99 79 53 26 0.33 intronic rs1863382 E2F8 AU NM_024680 exon5 c.5671+93T>C 0.113818 0.1677 Uncertain 11_19252427_G->T 11 19252427 19252427 G T snp 1242.77 0/1 99 105 53 52 0.5 intronic rs793252 E2F8 AU NM_024680 exon6 c.6177+46G>T 0.428914 0.4583 0.400786 0.4278 0.4793 Uncertain 11_19256250_C->T 11 19256250 19256250 C T snp 1100.77 1/1 81 39 1 38 0.97 intronic rs793269 E2F8 AU NM_024680 exon9 c.10086-40C>T 0.989018 1 0.985906 0.9962 1 Uncertain 11_19372616_-->GA 11 19372616 19372616 - GA indel 5178.73 1/1 99 98 0 98 1.0 intergenic rs10655705 E2F8 AU 0.976238 1 0.970482 0.9888 1 Uncertain 11_19735987_A->G 11 19735987 19735987 A G snp 2440.77 0/1 99 237 144 93 0.39 ncRNA_exonic rs2278132 LOC100126784 AU 0.542532 0.3333 0.5032 0.3636 Uncertain 11_19854088_G->A 11 19854088 19854088 G A snp 2881.77 1/1 99 111 1 110 0.99 exonic rs6483617 NAV2 AU nonsynonymous SNV NM_145117 exon2 c.G326A p.R109K 0.405751 0.3542 0.432840 0.3476 0.4129 1.0 P -0.956 T 0.0 T 0.0 T Pathogenic 11_19864162_T->A 11 19864162 19864162 T A snp 171.9 1/1 15 5 0 5 1.0 intronic rs16937196 NAV2 AU NM_001111018 exon3 c.491917-254T>A 0.297923 0.3165 Uncertain 11_19955500_A->G 11 19955500 19955500 A G snp 4907.77 1/1 99 180 0 180 1.0 exonic rs1372989 NAV2 AU synonymous SNV NM_145117 exon7 c.A1710G p.K570K 0.733427 0.6438 0.837954 0.8245 0.6319 Uncertain 11_19970558_T->C 11 19970558 19970558 T C snp 5415.77 1/1 99 180 0 180 1.0 exonic rs2585773 NAV2 AU synonymous SNV NM_145117 exon10 c.T2577C p.D859D 0.963059 1 0.965650 0.9906 1 Uncertain 11_19970579_C->T 11 19970579 19970579 C T snp 3946.77 1/1 99 126 0 126 1.0 exonic rs2707084 NAV2 AU synonymous SNV NM_145117 exon10 c.C2598T p.D866D 0.943091 1 0.946550 0.9846 1 Uncertain 11_20005484_G->T 11 20005484 20005484 G T snp 328.78 1/1 27 10 0 10 1.0 intronic rs2568117 NAV2 AU NM_001111018 exon11 c.633171-186G>T 0.986022 1 Uncertain 11_20005892_G->T 11 20005892 20005892 G T snp 333.78 1/1 27 9 0 9 1.0 intronic rs4757875 NAV2 AU NM_001111018 exon11 c.633294+99G>T 0.582268 0.4474 Uncertain 11_20057371_T->G 11 20057371 20057371 T G snp 2092.77 1/1 99 64 0 64 1.0 intronic rs6483634 NAV2 AU NM_001111018 exon12 c.685005-133T>G 0.945088 0.9623 Uncertain 11_20065779_C->G 11 20065779 20065779 C G snp 3344.77 1/1 99 122 0 122 1.0 exonic rs3802800 NAV2 AU nonsynonymous SNV NM_145117 exon13 c.C3160G p.P1054A 0.88139 0.9484 0.891281 0.9509 0.9384 0.638 P -0.990 T 0.009 T 0.006 T Pathogenic 11_20066355_G->A 11 20066355 20066355 G A snp 50.74 1/1 6 2 0 2 1.0 ncRNA_intronic rs10219212 NAV2-AS2 AU 0.308906 0.1627 Uncertain 11_20067064_C->T 11 20067064 20067064 C T snp 2388.77 0/1 99 250 147 103 0.41 exonic rs7125647 NAV2 AU synonymous SNV NM_145117 exon14 c.C3750T p.D1250D 0.66234 0.8313 0.566508 0.6118 0.8575 Uncertain 11_20070225_C->G 11 20070225 20070225 C G snp 618.77 0/1 99 47 23 24 0.51 ncRNA_intronic rs12283929 NAV2-AS2 AU 0.223442 0.2679 0.245963 0.2502 0.2803 Uncertain 11_20072779_C->T 11 20072779 20072779 C T snp 3675.77 1/1 99 131 1 130 0.99 intronic rs6483635 NAV2 AU NM_001111018 exon17 c.700335-55C>T 0.990615 1 0.991021 Uncertain 11_20099112_A->T 11 20099112 20099112 A T snp 4702.77 1/1 99 177 1 176 0.99 exonic rs4757028 NAV2 AU synonymous SNV NM_145117 exon23 c.A4998T p.A1666A 0.908546 0.9514 0.874289 0.8957 0.9560 Uncertain 11_20099399_G->T 11 20099399 20099399 G T snp 473.77 1/1 36 12 0 12 1.0 intronic rs6483641 NAV2 AU NM_001111018 exon24 c.727039-139G>T 0.89996 0.9593 Uncertain 11_20099449_C->T 11 20099449 20099449 C T snp 789.77 0/1 99 50 21 29 0.58 intronic rs12146551 NAV2 AU NM_001111018 exon24 c.727039-89C>T 0.422125 0.3046 Uncertain 11_20099541_C->T 11 20099541 20099541 C T snp 3822.77 1/1 99 136 0 136 1.0 exonic rs6483642 NAV2 AU synonymous SNV NM_145117 exon24 c.C5070T p.D1690D 0.908347 0.9573 0.865908 0.8903 0.9533 Uncertain 11_20099767_A->C 11 20099767 20099767 A C snp 518.77 1/1 39 15 0 15 1.0 intronic rs7121301 NAV2 AU NM_001111018 exon24 c.727151+117A>C 0.914337 0.9623 Uncertain 11_20099776_A->G 11 20099776 20099776 A G snp 275.9 0/1 15 9 1 8 0.89 intronic rs7121304 NAV2 AU NM_001111018 exon24 c.727151+126A>G 0.935703 0.9633 Uncertain 11_20101704_C->T 11 20101704 20101704 C T snp 1983.77 1/1 99 78 0 78 1.0 exonic rs1867114 NAV2 AU synonymous SNV NM_145117 exon25 c.C5274T p.S1758S 0.90635 0.9563 0.862141 0.8881 0.9512 Uncertain 11_20101744_C->A 11 20101744 20101744 C A snp 2009.77 1/1 99 78 1 77 0.99 exonic rs1867115 NAV2 AU synonymous SNV NM_145117 exon25 c.C5314A p.R1772R 0.931709 0.9583 0.887898 0.8970 0.9525 Uncertain 11_20101769_C->T 11 20101769 20101769 C T snp 704.77 0/1 99 68 36 32 0.47 intronic rs3758695 NAV2 AU NM_001244963 exon27 c.366518+10C>T 0.326877 0.5873 0.228587 0.2811 0.6214 Uncertain 11_20104669_G->A 11 20104669 20104669 G A snp 988.77 0/1 99 92 45 47 0.51 exonic rs2028570 NAV2 AU synonymous SNV NM_145117 exon26 c.G5442A p.P1814P 0.437899 0.3065 0.464632 0.5281 0.2823 Uncertain 11_20112373_A->G 11 20112373 20112373 A G snp 1144.77 0/1 99 81 32 49 0.6 intronic rs2289560 NAV2 AU NM_001111018 exon27 c.739911-37A>G 0.349042 0.6339 0.282639 0.3365 0.6531 Uncertain 11_20112417_A->C 11 20112417 20112417 A C snp 1290.77 0/1 99 101 47 54 0.53 exonic rs2243624 NAV2 AU synonymous SNV NM_145117 exon27 c.A5505C p.S1835S 0.406949 0.6349 0.350069 0.3496 0.6565 Uncertain 11_20112492_G->A 11 20112492 20112492 G A snp 809.77 0/1 99 75 40 35 0.47 exonic rs1837971 NAV2 AU synonymous SNV NM_145117 exon27 c.G5580A p.T1860T 0.499002 0.3254 0.495002 0.5095 0.2982 Uncertain 11_20112649_G->A 11 20112649 20112649 G A snp 141.03 1/1 12 4 0 4 1.0 intronic rs2255322 NAV2 AU NM_001111018 exon27 c.740065+85G>A 0.920927 0.9593 Uncertain 11_20113591_C->A 11 20113591 20113591 C A snp 176.9 1/1 15 5 0 5 1.0 intronic rs2255447 NAV2 AU NM_001111018 exon28 c.741252-160C>A 0.912939 0.9583 Uncertain 11_20117232_T->C 11 20117232 20117232 T C snp 5909.77 1/1 99 217 0 217 1.0 exonic rs2289566 NAV2 AU synonymous SNV NM_145117 exon30 c.T5931C p.H1977H 0.453474 0.8899 0.257112 0.3778 0.9054 Uncertain 11_20119312_A->G 11 20119312 20119312 A G snp 1239.77 0/1 99 93 45 48 0.52 intronic rs2289563 NAV2 AU NM_001111018 exon31 c.746792+21A>G 0.228035 0.2897 0.163771 0.2183 0.2683 Uncertain 11_20119407_G->T 11 20119407 20119407 G T snp 247.77 0/1 99 24 13 11 0.46 intronic rs2289562 NAV2 AU NM_001111018 exon31 c.746792+116G>T 0.21905 0.2867 Uncertain 11_20122392_C->A 11 20122392 20122392 C A snp 1214.77 1/1 90 35 0 35 1.0 intronic rs2245314 NAV2 AU NM_001111018 exon32 c.749983-90C>A 0.973842 1 Uncertain 11_20124914_A->C 11 20124914 20124914 A C snp 3807.77 1/1 99 149 0 149 1.0 exonic rs2243411 NAV2 AU synonymous SNV NM_145117 exon33 c.A6531C p.G2177G 0.917332 0.9573 0.933262 0.9679 0.9452 Uncertain 11_20126965_A->C 11 20126965 20126965 A C snp 306.77 0/1 99 21 9 12 0.57 intronic rs59493132 NAV2 AU NM_001111018 exon35 c.754577-111A>C 0.0559105 0.0526 Uncertain 11_20139632_G->C 11 20139632 20139632 G C snp 2494.77 0/1 99 250 144 106 0.42 intronic rs2245836 NAV2 AU NM_001111018 exon38 c.767179-46G>C 0.289537 0.5397 0.175457 0.1869 0.5505 Uncertain 11_20139937_C->T 11 20139937 20139937 C T snp 71.78 0/1 24 4 1 3 0.75 UTR3 rs3802803 NAV2 AU 0.177915 0.374 Uncertain 11_20178552_G->- 11 20178552 20178552 G - indel 3144.73 1/1 99 116 12 104 0.9 intronic rs10717537 DBX1 AU NM_001029865 exon2 c.823-30delG 0.627995 0.7222 0.6496 0.7328 Uncertain 11_20180604_A->G 11 20180604 20180604 A G snp 54.74 1/1 6 2 0 2 1.0 intronic rs10741822 DBX1 AU NM_001029865 exon3 c.2977-132A>G 0.904952 0.87 Uncertain 11_20385228_T->C 11 20385228 20385228 T C snp 137.03 1/1 12 5 0 5 1.0 upstream rs3808991 HTATIP2 AU 0.818091 0.7669 Uncertain 11_20397918_T->C 11 20397918 20397918 T C snp 196.84 1/1 18 7 1 6 0.86 intronic rs10741833 HTATIP2 AU NM_001098521 exon4 c.12342-207T>C 0.796725 0.5308 Uncertain 11_20398034_T->C 11 20398034 20398034 T C snp 3553.77 1/1 99 118 0 118 1.0 intronic rs10741834 HTATIP2 AU NM_001098521 exon4 c.12342-91T>C 0.947284 1 Uncertain 11_20403825_A->T 11 20403825 20403825 A T snp 1339.77 1/1 96 50 0 50 1.0 intronic rs7926967 HTATIP2 AU NM_001098521 exon5 c.18002+40A>T 0.966653 1 0.968005 0.9915 1 Uncertain 11_20403904_G->C 11 20403904 20403904 G C snp 212.77 0/1 99 15 8 7 0.47 intronic rs10766664 HTATIP2 AU NM_001098521 exon5 c.18002+119G>C 0.675919 0.4514 Uncertain 11_20404506_T->C 11 20404506 20404506 T C snp 50.74 1/1 6 2 0 2 1.0 intronic rs2403587 HTATIP2 AU NM_001098521 exon6 c.18742-19T>C 0.462061 0.3671 0.829892 0.6569 0.4887 Uncertain 11_20404613_T->G 11 20404613 20404613 T G snp 776.77 0/1 99 65 30 35 0.54 exonic rs3824886 HTATIP2 AU nonsynonymous SNV NM_001098522 exon5 c.T591G p.S197R 0.712061 0.4673 0.845610 0.8574 0.4978 0.17 T 0.000 P -1.006 T 0.003 T 0.003 T Pathogenic 11_20404757_T->C 11 20404757 20404757 T C snp 2015.77 0/1 99 146 56 90 0.62 UTR3 rs3781679 HTATIP2 AU 0.710663 0.4673 0.843995 0.8638 0.5232 Uncertain 11_20409169_G->C 11 20409169 20409169 G C snp 291.78 1/1 24 8 0 8 1.0 UTR5 rs2270678 PRMT3 AU 0.838658 0.7748 Uncertain 11_20411200_AAAA->- 11 20411200 20411203 AAAA - indel 1246.76 1/1 22 25 1 24 0.96 intronic rs398055061 PRMT3 AU NM_001145166 exon2 c.1997-89_1997-86delAAAA 0.797923 0.5635 Uncertain 11_20411418_G->C 11 20411418 20411418 G C snp 1600.77 1/1 81 53 1 52 0.98 intronic rs7937501 PRMT3 AU NM_001145167 exon2 c.16+46G>C 0.703075 0.4692 0.835845 0.8535 0.4986 Uncertain 11_20411424_A->G 11 20411424 20411424 A G snp 1280.77 1/1 57 40 1 39 0.97 intronic rs7937204 PRMT3 AU NM_001145167 exon2 c.16+52A>G 0.703075 0.4692 0.830858 0.8536 0.4992 Uncertain 11_20411503_G->A 11 20411503 20411503 G A snp 54.74 1/1 6 2 0 2 1.0 intronic rs2403591 PRMT3 AU NM_001145167 exon2 c.16+131G>A 0.66234 0.4544 Uncertain 11_20418956_T->C 11 20418956 20418956 T C snp 96.28 1/1 9 3 0 3 1.0 intronic rs6483670 PRMT3 AU NM_001145167 exon6 c.7766-166T>C 0.711462 0.4702 Uncertain 11_20419028_T->C 11 20419028 20419028 T C snp 1574.77 1/1 99 47 0 47 1.0 intronic rs7934372 PRMT3 AU NM_001145167 exon6 c.7766-94T>C 0.61222 0.4147 Uncertain 11_20424326_A->G 11 20424326 20424326 A G snp 463.77 1/1 36 13 0 13 1.0 intronic rs10833319 PRMT3 AU NM_001145167 exon7 c.13108-138A>G 0.702875 0.4702 Uncertain 11_20429454_T->C 11 20429454 20429454 T C snp 418.77 0/1 99 66 41 25 0.38 splicing rs10741836 PRMT3 AU NM_001145167 exon8 c.18100-2T>C 0.910144 0.6964 0.995541 0.9489 0.6978 Pathogenic 11_20448531_G->A 11 20448531 20448531 G A snp 113.77 0/1 99 14 8 6 0.43 intronic rs12797994 PRMT3 AU NM_001145167 exon9 c.37055+120G>A 0.910343 0.6974 Uncertain 11_20473655_T->G 11 20473655 20473655 T G snp 217.77 0/1 99 22 13 9 0.41 intronic rs1001669 PRMT3 AU NM_001145167 exon10 c.62319-20T>G 0.706869 0.4663 0.840381 0.8555 0.5021 Uncertain 11_20483748_T->C 11 20483748 20483748 T C snp 1063.77 0/1 99 74 33 41 0.55 intronic rs3758803 PRMT3 AU NM_001145167 exon11 c.72357+35T>C 0.345647 0.2242 0.451791 0.4613 0.2297 Uncertain 11_20486063_C->G 11 20486063 20486063 C G snp 868.77 0/1 99 98 52 46 0.47 exonic rs3758805 PRMT3 AU nonsynonymous SNV NM_005788 exon13 c.C1318G p.L440V 0.0169728 0.0704 0.000077 0.0066 0.0697 0.1 T 1.000 D -0.192 T 0.997 D 0.926 D ID=CM097283;DIS=Decreased protein stability;TAG=FP;PUB=19702579 FP Pathogenic 11_20515555_G->A 11 20515555 20515555 G A snp 1007.77 1/1 72 36 0 36 1.0 intronic rs6483697 PRMT3 AU NM_001145167 exon13 c.104159+40G>A 1 1 1 1 Uncertain 11_20529727_C->T 11 20529727 20529727 C T snp 222.84 1/1 18 6 0 6 1.0 intronic rs6483699 PRMT3 AU NM_001145167 exon15 c.118493-122C>T 0.997404 0.9871 Uncertain 11_20529886_G->A 11 20529886 20529886 G A snp 3722.77 1/1 99 136 0 136 1.0 exonic rs6483700 PRMT3 AU nonsynonymous SNV NM_005788 exon16 c.G1523A p.S508N 0.991414 0.9573 0.999846 0.9967 0.9556 1 T 0.000 P -0.945 T 0.0 T 0.0 T Pathogenic 11_20622975_G->A 11 20622975 20622975 G A snp 3944.77 1/1 99 138 0 138 1.0 exonic rs1443547 SLC6A5 AR,AD nonsynonymous SNV NM_004211 exon2 c.G304A p.G102S 0.405751 0.3651 0.369424 0.4067 0.4270 0.84 T 0.0 P -1.052 T 0.0 T 0.001 T Pathogenic 11_20623042_T->C 11 20623042 20623042 T C snp 5783.77 1/1 99 209 0 209 1.0 exonic rs1443548 SLC6A5 AR,AD nonsynonymous SNV NM_004211 exon2 c.T371C p.F124S 0.793131 0.75 0.795018 0.7789 0.7664 0.26 T 0.000 P -0.983 T 0.0 T 0.0 T Pathogenic 11_20623156_C->G 11 20623156 20623156 C G snp 6180.77 1/1 99 238 0 238 1.0 exonic rs1443549 SLC6A5 AR,AD nonsynonymous SNV NM_004211 exon2 c.C485G p.A162G 0.99361 1 0.993234 0.9983 1 1 T 0.002 P -0.929 T 0.0 T 0.0 T Pathogenic 11_20628371_A->G 11 20628371 20628371 A G snp 56.74 1/1 6 2 0 2 1.0 intronic rs11025648 SLC6A5 AR,AD NM_004211 exon4 c.7334-181A>G 0.585463 0.7262 Uncertain 11_20628479_T->C 11 20628479 20628479 T C snp 2464.77 1/1 99 86 0 86 1.0 intronic rs2278649 SLC6A5 AR,AD NM_004211 exon4 c.7334-73T>C 0.585463 0.7262 Uncertain 11_20639400_A->G 11 20639400 20639400 A G snp 1884.77 1/1 99 64 0 64 1.0 exonic rs7925597 SLC6A5 AR,AD synonymous SNV NM_004211 exon7 c.A1230G p.S410S 0.997404 1 0.995002 0.9989 1 Uncertain 11_20648133_C->G 11 20648133 20648133 C G snp 539.77 1/1 42 14 0 14 1.0 intronic rs11025665 SLC6A5 AR,AD NM_004211 exon8 c.27035-120C>G 0.130791 0.2312 Uncertain 11_20648418_C->T 11 20648418 20648418 C T snp 1264.77 1/1 93 47 1 46 0.98 intronic rs4923548 SLC6A5 AR,AD NM_004211 exon8 c.27170+30C>T 0.935304 1 0.936491 0.9824 1 Uncertain 11_20649404_G->A 11 20649404 20649404 G A snp 139.03 1/1 12 4 0 4 1.0 intronic rs3819252 SLC6A5 AR,AD NM_004211 exon9 c.28307-121G>A 0.289537 0.3165 Uncertain 11_20649448_G->A 11 20649448 20649448 G A snp 510.77 1/1 39 14 0 14 1.0 intronic rs2276429 SLC6A5 AR,AD NM_004211 exon9 c.28307-77G>A 0.289537 0.3165 Uncertain 11_20649840_G->T 11 20649840 20649840 G T snp 168.9 1/1 15 5 0 5 1.0 intronic rs2276430 SLC6A5 AR,AD NM_004211 exon9 c.28411+211G>T 0.114217 0.2321 Uncertain 11_20673867_G->A 11 20673867 20673867 G A snp 1911.77 1/1 99 78 0 78 1.0 exonic rs2276433 SLC6A5 AR,AD synonymous SNV NM_004211 exon15 c.G2103A p.E701E 0.478235 0.8234 0.323774 0.4506 0.8414 Uncertain 11_20805118_C->T 11 20805118 20805118 C T snp 357.77 1/1 30 11 0 11 1.0 intronic rs2280362 NELL1 AU NM_006157 exon3 c.113956-107C>T 0.648762 0.8353 Uncertain 11_20805286_G->A 11 20805286 20805286 G A snp 5734.77 1/1 99 214 0 214 1.0 exonic rs8176785 NELL1 AU nonsynonymous SNV NM_006157 exon3 c.G245A p.R82Q 0.637181 0.8393 0.602414 0.7362 0.8635 0.04 T 0.003 P -1.096 T 0.109 T 0.065 T ID=CM074381;DIS=Crohn disease, association with;TAG=DP;PUB=17684544 DP Pathogenic 11_20949763_C->T 11 20949763 20949763 C T snp 533.77 1/1 42 15 0 15 1.0 intronic rs4363596 NELL1 AU NM_006157 exon9 c.258653-159C>T 0.821486 0.999 Uncertain 11_20959465_C->A 11 20959465 20959465 C A snp 2963.77 1/1 99 107 0 107 1.0 intronic rs8176791 NELL1 AU NM_006157 exon10 c.268136+60C>A 0.21885 0.3482 0.144985 Uncertain 11_20959482_G->C 11 20959482 20959482 G C snp 1215.77 0/1 99 84 38 46 0.55 intronic rs1880086 NELL1 AU NM_006157 exon10 c.268136+77G>C 0.66254 0.755 Uncertain 11_20968852_C->G 11 20968852 20968852 C G snp 339.77 0/1 99 27 14 13 0.48 intronic rs8176796 NELL1 AU NM_006157 exon11 c.277612-29C>G 0.0900559 0.2183 0.055436 0.0774 0.2409 Uncertain 11_20981894_T->C 11 20981894 20981894 T C snp 307.78 1/1 24 9 0 9 1.0 intronic rs2280584 NELL1 AU NM_006157 exon12 c.290708-83T>C 0.424121 0.6121 Uncertain 11_21305927_T->C 11 21305927 21305927 T C snp 1992.77 0/1 99 163 79 84 0.52 intronic rs4151053 NELL1 AU NM_006157 exon14 c.559731+54927T>C 0.867013 0.8026 0.9235 0.7893 Uncertain 11_21555780_C->G 11 21555780 21555780 C G snp 388.77 0/1 99 27 14 13 0.48 intronic rs61194030 NELL1 AU NM_006157 exon16 c.864650-139C>G 0.216653 0.2113 Uncertain 11_21581665_C->T 11 21581665 21581665 C T snp 1666.77 1/1 99 54 0 54 1.0 intronic rs7119475 NELL1 AU NM_006157 exon17 c.890465-69C>T 0.783946 0.8056 Uncertain 11_21581805_C->T 11 21581805 21581805 C T snp 4002.77 1/1 99 147 0 147 1.0 exonic rs8176789 NELL1 AU synonymous SNV NM_006157 exon17 c.C1857T p.G619G 0.543131 0.5774 0.666615 0.7068 0.6334 Uncertain 11_21581997_C->T 11 21581997 21581997 C T snp 633.77 1/1 48 20 0 20 1.0 intronic rs8176790 NELL1 AU NM_006157 exon17 c.890659+69C>T 0.54353 0.5774 Uncertain 11_21592228_C->A 11 21592228 21592228 C A snp 1759.77 1/1 99 59 0 59 1.0 intronic rs4922847 NELL1 AU NM_006157 exon18 c.901040-81C>A 0.576078 0.6538 Uncertain 11_22214877_A->G 11 22214877 22214877 A G snp 758.77 0/1 99 58 23 35 0.6 UTR5 rs61879341 ANO5 AR,AD CLINSIG=untested;CLNDBN=not_provided;CLNREVSTAT=no_assertion_provided;CLNACC=RCV000128764.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Likely pathogenic 11_22214877_-->AGGAGGAGGGGAATGAGGAGGAGG 11 22214877 22214877 - AGGAGGAGGGGAATGAGGAGGAGG indel 12952.7 1/1 99 58 0 58 1.0 UTR5 rs139514865 ANO5 AR,AD 0.78135 0.5823 Uncertain 11_22214903_G->C 11 22214903 22214903 G C snp 2295.77 1/1 99 78 0 78 1.0 UTR5 rs12792259 ANO5 AR,AD 0.789936 0.5833 CLINSIG=untested;CLNDBN=not_provided;CLNREVSTAT=no_assertion_provided;CLNACC=RCV000128763.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Uncertain 11_22233029_G->A 11 22233029 22233029 G A snp 467.77 1/1 36 14 1 13 0.93 intronic rs4922980 ANO5 AR,AD NM_001142649 exon3 c.17822+169G>A 0.576478 0.3601 CLINSIG=untested;CLNDBN=not_provided;CLNREVSTAT=no_assertion_provided;CLNACC=RCV000128768.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Uncertain 11_22233066_T->C 11 22233066 22233066 T C snp 48.74 1/1 6 2 0 2 1.0 intronic rs4922981 ANO5 AR,AD NM_001142649 exon3 c.17822+206T>C 0.574281 0.3601 CLINSIG=untested;CLNDBN=not_provided;CLNREVSTAT=no_assertion_provided;CLNACC=RCV000128769.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Uncertain 11_22239661_-->CTCACACACACACACACA 11 22239661 22239661 - CTCACACACACACACACA indel 1235.8 1/1 18 6 0 6 1.0 intronic rs373346885 ANO5 AR,AD NM_001142649 exon4 c.24753-130insCTCACACACACACACACA Uncertain 11_22242729_T->C 11 22242729 22242729 T C snp 2172.77 1/1 99 79 0 79 1.0 exonic rs4312063 ANO5 AR,AD synonymous SNV NM_213599 exon5 c.T267C p.D89D 0.789936 0.5853 0.844432 0.7772 0.5576 CLINSIG=non-pathogenic|untested;CLNDBN=not_specified|not_provided;CLNREVSTAT=criteria_provided\x2c_multiple_submitters\x2c_no_conflicts|no_assertion_provided;CLNACC=RCV000082848.4|RCV000128783.1;CLNDSDB=MedGen|MedGen;CLNDSDBID=CN169374|CN221809 Uncertain 11_22271870_A->T 11 22271870 22271870 A T snp 637.77 0/1 99 57 29 28 0.49 exonic rs7481951 ANO5 AR,AD nonsynonymous SNV NM_213599 exon10 c.A966T p.L322F 0.448639 0.4835 0.1824 0.22 T 0.0 P -0.934 T 0.011 T 0.022 T CLINSIG=non-pathogenic|untested;CLNDBN=not_specified|not_provided;CLNREVSTAT=criteria_provided\x2c_multiple_submitters\x2c_no_conflicts|no_assertion_provided;CLNACC=RCV000082855.4|RCV000128791.1;CLNDSDB=MedGen|MedGen;CLNDSDBID=CN169374|CN221809 Pathogenic 11_22297607_T->- 11 22297607 22297607 T - indel 125.73 0/1 96 14 6 8 0.57 intronic rs398015549 ANO5 AR,AD NM_001142649 exon21 c.82601-32delT 0.7243 0.7784 Uncertain 11_22363400_G->T 11 22363400 22363400 G T snp 2150.77 0/1 99 181 89 92 0.51 intronic rs72636009 SLC17A6 AU NM_020346 exon2 c.3247+74G>T 0.204273 0.4494 Uncertain 11_22364445_C->A 11 22364445 22364445 C A snp 646.77 0/1 99 54 27 27 0.5 intronic rs569897411 SLC17A6 AU NM_020346 exon3 c.4713-347C>A 0.000199681 0.001 Uncertain 11_22364939_G->C 11 22364939 22364939 G C snp 451.77 0/1 99 42 24 18 0.43 intronic rs2278750 SLC17A6 AU NM_020346 exon3 c.4832+28G>C 0.196685 0.4544 0.085653 0.1451 0.4880 Uncertain 11_22384166_G->A 11 22384166 22384166 G A snp 649.77 0/1 99 39 17 22 0.56 intronic rs2290046 SLC17A6 AU NM_020346 exon6 c.24205-118G>A 0.116014 0.0486 Uncertain 11_22391534_G->A 11 22391534 22391534 G A snp 450.77 0/1 99 26 10 16 0.62 intronic rs2665677 SLC17A6 AU NM_020346 exon8 c.31505-50G>A 0.61901 0.5526 0.616867 0.6077 0.5220 Uncertain 11_22397739_A->C 11 22397739 22397739 A C snp 56.74 1/1 6 2 0 2 1.0 intronic rs2248436 SLC17A6 AU NM_020346 exon10 c.37559+101A>C 0.647564 0.5565 Uncertain 11_22696451_A->G 11 22696451 22696451 A G snp 1141.77 0/1 99 110 60 50 0.45 exonic rs922571 GAS2 AU synonymous SNV NM_005256 exon1 c.A36G p.G12G 0.524161 0.749 0.543980 0.6197 0.7602 Uncertain 11_22707140_TG->- 11 22707140 22707141 TG - indel 746.73 0/1 99 35 17 18 0.51 intronic rs16930088 GAS2 AU NM_001143830 exon3 c.10798-73_10798-72delTG 0.0335463 0.0665 Uncertain 11_22747745_A->C 11 22747745 22747745 A C snp 518.77 1/1 39 14 0 14 1.0 intronic rs337448 GAS2 AU NM_001143830 exon4 c.51422-92A>C 0.875599 1 Uncertain 11_22759168_A->G 11 22759168 22759168 A G snp 720.77 0/1 99 55 28 27 0.49 intronic rs7934119 GAS2 AU NM_001143830 exon5 c.62835-82A>G 0.135184 0.1845 Uncertain 11_22770922_G->T 11 22770922 22770922 G T snp 456.77 0/1 99 23 9 14 0.61 intronic rs2270755 GAS2 AU NM_001143830 exon6 c.74392+115G>T 0.398962 0.5933 Uncertain 11_22851409_A->G 11 22851409 22851409 A G snp 300.77 0/1 99 28 16 12 0.43 upstream rs2286810 SVIP AU 0.382987 0.2103 Uncertain 11_22868937_G->A 11 22868937 22868937 G A snp 410.77 0/1 99 46 28 18 0.39 UTR3 rs2302423 CCDC179 AU 0.559704 0.6786 Uncertain 11_22880918_T->G 11 22880918 22880918 T G snp 391.77 0/1 99 51 32 19 0.37 intronic rs3213707 CCDC179 AU NM_001195637 exon3 c.11942-79T>G 0.283546 0.3214 Uncertain 11_22881002_C->T 11 22881002 22881002 C T snp 831.77 0/1 99 54 19 35 0.65 exonic rs3213706 CCDC179 AU nonsynonymous SNV NM_001195637 exon2 c.G86A p.R29Q 0.458866 0.6349 0.4776 0.6364 Pathogenic 11_22881687_C->A 11 22881687 22881687 C A snp 565.77 0/1 99 35 18 17 0.49 intronic rs2240941 CCDC179 AU NM_001195637 exon4 c.12867-235C>A 0.144369 0.2123 Uncertain 11_24133495_-->A 11 24133495 24133495 - A indel 457.73 0/1 99 42 20 22 0.52 intergenic rs143051416 MIR8054 AU 0.0744808 0.0506 Uncertain 11_24759664_T->G 11 24759664 24759664 T G snp 77.77 0/1 99 7 4 3 0.43 intronic rs11028130 LUZP2 AU NM_001252010 exon4 c.240977-102T>G 0.189497 0.2798 Uncertain 11_24784862_A->T 11 24784862 24784862 A T snp 339.77 0/1 99 39 21 18 0.46 intronic rs2716532 LUZP2 AU NM_001252010 exon5 c.266065+8A>T 0.594848 0.4643 0.663627 0.6418 0.4571 Uncertain 11_24998286_T->C 11 24998286 24998286 T C snp 443.77 0/1 99 35 18 17 0.49 intronic rs75340045 LUZP2 AU NM_001252010 exon6 c.479422+75T>C 0.0221645 0.0923 Uncertain 11_24998335_A->G 11 24998335 24998335 A G snp 560.77 1/1 42 16 0 16 1.0 intronic rs11028314 LUZP2 AU NM_001252010 exon6 c.479422+124A>G 0.39377 0.6895 Uncertain 11_25098938_G->C 11 25098938 25098938 G C snp 3913.77 1/1 99 150 0 150 1.0 exonic rs7930185 LUZP2 AU nonsynonymous SNV NM_001009909 exon11 c.G922C p.E308Q 0.438299 0.7808 0.335384 0.4355 0.8060 0.1 T 0.0 P -1.058 T 0.783 T 0.365 P Pathogenic 11_25099056_A->T 11 25099056 25099056 A T snp 130.03 1/1 12 4 0 4 1.0 intronic rs11028403 LUZP2 AU NM_001252010 exon9 c.580163+104A>T 0.421526 0.7688 Uncertain 11_25100071_C->T 11 25100071 25100071 C T snp 1711.77 1/1 99 64 0 64 1.0 intronic rs12420723 LUZP2 AU NM_001252010 exon10 c.581310-28C>T 0.165735 0.3611 0.117982 0.1779 0.3737 Uncertain 11_25100229_G->A 11 25100229 25100229 G A snp 1611.77 1/1 99 60 0 60 1.0 UTR3 rs10500994 LUZP2 AU 0.421326 0.7748 0.320852 0.4363 0.7979 Uncertain 11_26353951_G->T 11 26353951 26353951 G T snp 780.77 0/1 99 67 38 29 0.43 intronic rs17243259 ANO3 AD NM_031418 exon1 c.46+83G>T 0.238019 0.1597 Uncertain 11_26481497_A->G 11 26481497 26481497 A G snp 2001.77 1/1 99 65 0 65 1.0 intronic rs12277506 ANO3 AD NM_031418 exon4 c.130754-3079A>G 0.298922 0.2966 Uncertain 11_26481611_G->A 11 26481611 26481611 G A snp 4202.77 1/1 99 164 0 164 1.0 intronic rs2047099 ANO3 AD NM_031418 exon4 c.130754-2965G>A 0.946486 0.997 0.9714 1 Uncertain 11_26484496_G->C 11 26484496 26484496 G C snp 105.77 0/1 99 22 15 7 0.32 intronic rs7942432 ANO3 AD NM_031418 exon4 c.130754-80G>C 0.203474 0.1538 Uncertain 11_26547348_G->A 11 26547348 26547348 G A snp 734.81 1/1 20 22 1 21 0.95 intronic rs430563 ANO3 AD NM_031418 exon7 c.193404+122G>A 0.767572 0.8323 Uncertain 11_26547353_T->G 11 26547353 26547353 T G snp 720.77 1/1 29 21 1 20 0.95 intronic rs410617 ANO3 AD NM_031418 exon7 c.193404+127T>G 0.776957 0.8363 Uncertain 11_26552679_T->A 11 26552679 26552679 T A snp 1723.77 1/1 99 50 0 50 1.0 intronic rs9988806 ANO3 AD NM_031418 exon8 c.198929-72T>A 0.576677 0.7917 Uncertain 11_26552696_T->A 11 26552696 26552696 T A snp 1876.77 1/1 99 60 0 60 1.0 intronic rs2131696 ANO3 AD NM_031418 exon8 c.198929-55T>A 0.576677 0.7917 Uncertain 11_26552702_T->C 11 26552702 26552702 T C snp 2145.77 1/1 99 69 0 69 1.0 intronic rs293937 ANO3 AD NM_031418 exon8 c.198929-49T>C 0.989617 1 0.986006 0.9966 0.9999 Uncertain 11_26558841_G->A 11 26558841 26558841 G A snp 728.77 1/1 54 20 0 20 1.0 intronic rs386635 ANO3 AD NM_031418 exon10 c.205130-111G>A 0.709065 0.8284 Uncertain 11_26559172_G->A 11 26559172 26559172 G A snp 1704.77 1/1 99 56 0 56 1.0 intronic rs396863 ANO3 AD NM_031418 exon10 c.205186+164G>A 0.710264 0.8284 Uncertain 11_26563464_A->T 11 26563464 26563464 A T snp 1235.77 1/1 90 43 0 43 1.0 intronic rs410036 ANO3 AD NM_031418 exon11 c.209671-29A>T 0.711661 0.8284 0.697555 0.7426 0.8229 Uncertain 11_26563652_T->G 11 26563652 26563652 T G snp 1316.77 1/1 96 46 0 46 1.0 intronic rs420143 ANO3 AD NM_031418 exon11 c.209793+37T>G 0.711661 0.8284 0.697401 0.7442 0.8250 Uncertain 11_26568966_A->G 11 26568966 26568966 A G snp 3826.77 1/1 99 139 0 139 1.0 exonic rs2663168 ANO3 AD synonymous SNV NM_031418 exon12 c.A1158G p.L386L 0.67512 0.8135 0.650700 0.6862 0.8157 Uncertain 11_26569240_G->T 11 26569240 26569240 G T snp 90.28 1/1 9 3 0 3 1.0 intronic rs2703409 ANO3 AD NM_031418 exon12 c.215275+143G>T 0.489417 0.6528 Uncertain 11_26574740_T->C 11 26574740 26574740 T C snp 776.77 1/1 57 21 0 21 1.0 intronic rs395770 ANO3 AD NM_031418 exon13 c.220973-55T>C 0.676518 0.8185 Uncertain 11_26574783_G->- 11 26574783 26574783 G - indel 1688.73 1/1 99 49 0 49 1.0 intronic rs59938249 ANO3 AD NM_031418 exon13 c.220973-12delG 0.936502 0.9831 0.5436 0.5828 Uncertain 11_26588804_C->T 11 26588804 26588804 C T snp 759.77 1/1 57 23 0 23 1.0 intronic rs293976 ANO3 AD NM_031418 exon14 c.227504+7478C>T 0.886781 0.7579 Uncertain 11_26619872_T->C 11 26619872 26619872 T C snp 107.77 0/1 99 17 11 6 0.35 intronic rs7112022 ANO3 AD NM_031418 exon15 c.266089-39T>C 0.3127 0.3562 0.291885 0.3269 0.3629 Uncertain 11_26620101_T->C 11 26620101 26620101 T C snp 259.77 0/1 99 28 18 10 0.36 intronic rs10835009 ANO3 AD NM_031418 exon15 c.266172+107T>C 0.302117 0.3552 Uncertain 11_26645811_A->G 11 26645811 26645811 A G snp 44.74 1/1 6 2 0 2 1.0 intronic rs10835027 ANO3 AD NM_031418 exon18 c.292186-197A>G 0.315296 0.3542 Uncertain 11_26645894_A->T 11 26645894 26645894 A T snp 646.77 1/1 48 20 0 20 1.0 intronic rs1012552 ANO3 AD NM_031418 exon18 c.292186-114A>T 0.883387 0.8938 Uncertain 11_26655658_G->A 11 26655658 26655658 G A snp 394.77 0/1 99 37 21 16 0.43 intronic rs7943086 ANO3 AD NM_031418 exon19 c.301928-92G>A 0.353634 0.3552 Uncertain 11_26656370_T->C 11 26656370 26656370 T C snp 546.77 0/1 99 27 8 19 0.7 intronic rs7933233 ANO3 AD NM_031418 exon20 c.302737-189T>C 0.341054 0.3552 Uncertain 11_26656563_C->T 11 26656563 26656563 C T snp 1304.77 0/1 99 132 71 61 0.46 exonic rs7946841 ANO3 AD synonymous SNV NM_031418 exon20 c.C1989T p.F663F 0.341254 0.3552 0.355352 0.3811 0.3572 Uncertain 11_26656714_C->G 11 26656714 26656714 C G snp 227.77 0/1 99 20 10 10 0.5 intronic rs10835033 ANO3 AD NM_031418 exon20 c.302795+97C>G 0.341054 0.3552 Uncertain 11_26663394_A->G 11 26663394 26663394 A G snp 947.77 0/1 99 118 78 40 0.34 intronic rs10835040 ANO3 AD NM_031418 exon22 c.309620-48A>G 0.354233 0.3552 0.388034 0.4149 0.3579 Uncertain 11_26677867_T->C 11 26677867 26677867 T C snp 3998.77 1/1 99 130 0 130 1.0 intronic rs10835050 ANO3 AD NM_031418 exon26 c.324100-55T>C 0.558906 0.5675 Uncertain 11_26677947_C->T 11 26677947 26677947 C T snp 2128.77 1/1 99 82 1 81 0.99 exonic rs10835051 ANO3 AD synonymous SNV NM_031418 exon26 c.C2682T p.P894P 0.558506 0.5655 0.561058 0.6347 0.5606 Uncertain 11_26692595_TG->- 11 26692595 26692596 TG - indel 1540.73 0/1 99 67 26 41 0.61 UTR3 rs149763956 SLC5A12 AU Uncertain 11_26694812_C->T 11 26694812 26694812 C T snp 1430.77 1/1 99 38 0 38 1.0 intronic rs4278475 SLC5A12 AU NM_178498 exon2 c.2300-136C>T 0.851837 0.8938 Uncertain 11_26694842_C->T 11 26694842 26694842 C T snp 1081.77 0/1 99 87 46 41 0.47 intronic rs4551716 SLC5A12 AU NM_178498 exon2 c.2300-106C>T 0.422125 0.3502 Uncertain 11_26694979_A->G 11 26694979 26694979 A G snp 1965.77 0/1 99 219 128 91 0.42 exonic rs4369354 SLC5A12 AU synonymous SNV NM_178498 exon14 c.T1677C p.C559C 0.422923 0.3502 0.481779 0.4592 0.3569 Uncertain 11_26700099_G->A 11 26700099 26700099 G A snp 562.77 0/1 99 62 39 23 0.37 intronic rs12793773 SLC5A12 AU NM_178498 exon3 c.7610-159G>A 0.313698 0.4464 Uncertain 11_26702482_T->A 11 26702482 26702482 T A snp 510.77 0/1 37 21 3 18 0.86 intronic rs10767569 SLC5A12 AU NM_178498 exon4 c.9953-119T>A 0.52496 0.5913 Uncertain 11_26702664_C->T 11 26702664 26702664 C T snp 1204.77 1/1 87 43 0 43 1.0 exonic rs10734383 SLC5A12 AU synonymous SNV NM_178498 exon12 c.G1413A p.L471L 0.991214 1 0.991095 0.9975 1 Uncertain 11_26705124_C->G 11 26705124 26705124 C G snp 83.77 0/1 70 7 3 4 0.57 intronic rs3924552 SLC5A12 AU NM_178498 exon5 c.12655-179C>G 0.316094 0.3442 Uncertain 11_26705310_A->G 11 26705310 26705310 A G snp 765.77 0/1 99 56 24 32 0.57 exonic rs3924551 SLC5A12 AU synonymous SNV NM_178498 exon11 c.T1302C p.N434N 0.435104 0.3472 0.542235 0.5898 0.4224 Uncertain 11_26724995_C->A 11 26724995 26724995 C A snp 211.84 1/1 18 6 0 6 1.0 intronic rs7940964 SLC5A12 AU NM_178498 exon10 c.32429-82C>A 0.464457 0.4673 Uncertain 11_26732923_A->G 11 26732923 26732923 A G snp 1089.77 0/1 99 113 64 49 0.43 intronic rs4322349 SLC5A12 AU NM_178498 exon13 c.40257+18A>G 0.296326 0.4127 0.249231 0.3153 0.4486 Uncertain 11_26734209_C->T 11 26734209 26734209 C T snp 7360.77 1/1 99 245 0 245 1.0 exonic rs10742156 SLC5A12 AU synonymous SNV NM_178498 exon2 c.G384A p.T128T 0.770367 0.8631 0.796678 0.8921 0.8707 Uncertain 11_27076977_C->T 11 27076977 27076977 C T snp 507.77 1/1 39 14 0 14 1.0 ncRNA_intronic rs2305095 BBOX1-AS1 AU 0.140575 0.2619 0.104369 0.1474 0.2831 Uncertain 11_27077118_C->T 11 27077118 27077118 C T snp 2104.77 1/1 99 84 1 83 0.99 exonic rs10767598 BBOX1 AU synonymous SNV NM_003986 exon3 c.C141T p.S47S 1 1 0.999923 1.0000 1 Uncertain 11_27379127_C->G 11 27379127 27379127 C G snp 808.77 0/1 99 60 28 32 0.53 intronic rs3741407 CCDC34 AU NM_030771 exon5 c.18721+39C>G 0.25619 0.2014 0.282956 0.2957 0.2031 Uncertain 11_27390089_T->C 11 27390089 27390089 T C snp 6250.77 1/1 99 212 1 211 1.0 exonic rs2447997 LGR4 AU synonymous SNV NM_018490 exon18 c.A2181G p.K727K 1 1 1.0000 1 Uncertain 11_27393813_G->A 11 27393813 27393813 G A snp 3006.77 0/1 99 216 88 128 0.59 intronic rs2448001 LGR4 AU NM_018490 exon3 c.4416-16G>A 0.417532 0.4504 0.392632 0.3868 0.4481 Uncertain 11_27395371_G->A 11 27395371 27395371 G A snp 143.03 1/1 12 5 0 5 1.0 intronic rs2448002 LGR4 AU NM_018490 exon4 c.5810+148G>A 0.766174 0.8591 Uncertain 11_27395377_G->A 11 27395377 27395377 G A snp 77.77 0/1 72 6 3 3 0.5 intronic rs2448003 LGR4 AU NM_018490 exon5 c.6108-144G>A 0.34984 0.4484 Uncertain 11_27398845_G->A 11 27398845 27398845 G A snp 260.77 0/1 99 22 12 10 0.45 intronic rs10835171 LGR4 AU NM_018490 exon7 c.9357+75G>A 0.417732 0.501 Uncertain 11_27401743_A->T 11 27401743 27401743 A T snp 1106.77 0/1 99 80 35 45 0.56 intronic rs2472623 LGR4 AU NM_018490 exon9 c.12404-74A>T 0.569089 0.499 Uncertain 11_27401927_T->G 11 27401927 27401927 T G snp 891.77 0/1 99 53 16 37 0.7 intronic rs2448005 LGR4 AU NM_018490 exon9 c.12473+41T>G 0.364417 0.4494 0.315177 0.3346 0.4554 Uncertain 11_27401940_T->A 11 27401940 27401940 T A snp 782.77 0/1 99 42 10 32 0.76 intronic rs2472622 LGR4 AU NM_018490 exon9 c.12473+54T>A 0.569089 0.499 0.643923 Uncertain 11_27403953_G->A 11 27403953 27403953 G A snp 56.74 1/1 6 2 0 2 1.0 intronic rs1026715 LGR4 AU NM_018490 exon12 c.14390+150G>A 0.278355 0.4077 Uncertain 11_27406844_G->A 11 27406844 27406844 G A snp 1536.77 0/1 99 122 56 66 0.54 exonic rs6484295 LGR4 AU synonymous SNV NM_018490 exon5 c.C573T p.S191S 0.364417 0.4494 0.315951 0.3292 0.4459 Uncertain 11_27412535_C->T 11 27412535 27412535 C T snp 1297.77 1/1 93 42 0 42 1.0 intronic rs12273521 LGR4 AU NM_018490 exon15 c.23227-105C>T 0.819489 0.9028 Uncertain 11_27413855_T->C 11 27413855 27413855 T C snp 499.77 1/1 39 14 0 14 1.0 intronic rs1871251 LGR4 AU NM_018490 exon16 c.24580-138T>C 0.984824 1 Uncertain 11_27493879_C->G 11 27493879 27493879 C G snp 146.78 0/1 27 7 2 5 0.71 UTR5 rs11541599 LGR4 AU 0.251797 0.1478 0 . Uncertain 11_27520840_T->C 11 27520840 27520840 T C snp 370.77 0/1 99 24 12 12 0.5 intronic rs545692646 LIN7C AU NM_018362 exon2 c.710-65T>C 0.000199681 0.001 Uncertain 11_27523164_-->GAAGTTAAAATTTCAGGC 11 27523164 27523164 - GAAGTTAAAATTTCAGGC indel 9390.73 0/1 99 127 57 70 0.55 intronic rs151336878 LIN7C AU NM_018362 exon3 c.2918+51insGAAGTTAAAATTTCAGGC 0.636382 0.5863 0.668054 0.6760 0.5398 Uncertain 11_27523186_G->T 11 27523186 27523186 G T snp 671.77 0/1 99 76 54 22 0.29 intronic rs10835188 LIN7C AU NM_018362 exon3 c.2918+73G>T 0.634385 0.5863 Uncertain 11_27523607_-->TG 11 27523607 27523607 - TG indel 552.73 0/1 99 28 14 14 0.5 intronic rs3215008 LIN7C AU NM_018362 exon4 c.3272+140insTG 0.126198 0.254 Uncertain 11_27528354_G->C 11 27528354 27528354 G C snp 2753.77 0/1 99 195 78 117 0.6 upstream rs2242341 BDNF-AS AU 0.096246 0.253 0.033071 Uncertain 11_27679662_T->C 11 27679662 27679662 T C snp 7574.77 1/1 99 250 0 250 1.0 exonic rs2353512 BDNF AU,AD,AO synonymous SNV NM_170735 exon1 c.A450G p.A150A 0.995208 1 0.996078 0.9989 1 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000156118.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 11_27695436_C->G 11 27695436 27695436 C G snp 54.74 1/1 6 2 0 2 1.0 ncRNA_intronic rs10767661 BDNF-AS AU 1 1 Uncertain 11_27695464_A->G 11 27695464 27695464 A G snp 262.8 1/1 21 7 0 7 1.0 ncRNA_intronic rs11030108 BDNF-AS AU 0.750599 0.9385 Uncertain 11_27695910_C->A 11 27695910 27695910 C A snp 86.77 0/1 30 4 1 3 0.75 ncRNA_intronic rs10835210 BDNF-AS AU 0.245008 0.2629 Uncertain 11_27910923_T->A 11 27910923 27910923 T A snp 4210.77 1/1 99 135 1 134 0.99 intergenic rs6484341 BDNF-AS AU 0.767372 0.7004 Uncertain 11_28045431_T->- 11 28045431 28045431 T - indel 190.73 0/1 99 32 16 16 0.5 intronic rs34088899 KIF18A AU NM_031217 exon2 c.2651+34delT 0.389776 0.2421 0.5202 0.3044 Uncertain 11_28057897_G->A 11 28057897 28057897 G A snp 1154.77 0/1 99 134 87 47 0.35 exonic rs141828077 KIF18A AU nonsynonymous SNV NM_031217 exon14 c.C2263T p.H755Y 0.00998403 0.0476 0.000154 0.0026 0.0314 1 T 1 N -1.029 T 0.006 T 0.001 T Pathogenic 11_28057957_T->C 11 28057957 28057957 T C snp 1901.77 0/1 99 166 93 73 0.44 exonic rs10458896 KIF18A AU nonsynonymous SNV NM_031217 exon14 c.A2203G p.I735V 0.397364 0.4762 0.395231 0.3212 0.4442 0.78 T 0.0 P -0.955 T 0.0 T 0.0 T Pathogenic 11_28058300_A->G 11 28058300 28058300 A G snp 38.77 0/1 67 5 3 2 0.4 intronic rs145665161 KIF18A AU NM_031217 exon4 c.15465+89A>G 0.000998403 0.005 Uncertain 11_28083890_G->T 11 28083890 28083890 G T snp 830.77 0/1 99 67 31 36 0.54 intronic rs11030202 KIF18A AU NM_031217 exon6 c.41195-51G>T 0.163339 0.3978 0.077836 Uncertain 11_28098605_T->C 11 28098605 28098605 T C snp 373.77 0/1 99 37 19 18 0.49 exonic rs7941488 KIF18A AU synonymous SNV NM_031217 exon10 c.A1374G p.Q458Q 0.0469249 0.2242 0.001617 0.0170 0.2007 Uncertain 11_28106029_T->C 11 28106029 28106029 T C snp 77.77 0/1 99 7 4 3 0.43 intronic rs10501096 KIF18A AU NM_031217 exon11 c.63432-149T>C 0.076877 0.3581 Uncertain 11_28106058_C->G 11 28106058 28106058 C G snp 309.77 0/1 99 21 9 12 0.57 intronic rs997555 KIF18A AU NM_031217 exon11 c.63432-120C>G 0.385184 0.2431 Uncertain 11_28110151_T->C 11 28110151 28110151 T C snp 2400.77 0/1 99 249 138 111 0.45 exonic rs12272419 KIF18A AU nonsynonymous SNV NM_031217 exon6 c.A817G p.T273A 0.163139 0.3988 0.079065 0.0898 0.3657 0.47 T 0.0 P -0.971 T 0.0 T 0.002 T ID=CM121663;DIS=Adult height, association with;TAG=DP;PUB=21959382 DP Pathogenic 11_28113094_-->A 11 28113094 28113094 - A indel 400.73 0/1 99 96 46 50 0.52 intronic rs757328142 KIF18A AU NM_031217 exon14 c.70314+34insA 0.0350 0.0171 Uncertain 11_28134974_C->A 11 28134974 28134974 C A snp 48.78 0/1 27 4 1 3 0.75 exonic rs2883478 METTL15 AU nonsynonymous SNV NM_001113528 exon3 c.C93A p.N31K 0.604034 0.756 0.4775 0.7053 1 T 0.0 P -1.002 T 0.0 T 0.0 T Pathogenic 11_30253318_A->T 11 30253318 30253318 A T snp 1960.77 1/1 99 59 0 59 1.0 intronic rs611246 FSHB AR 0.528155 0.6369 Uncertain 11_30253641_T->C 11 30253641 30253641 T C snp 1300.77 1/1 96 38 0 38 1.0 intronic rs609896 FSHB AR NM_000510 exon2 c.159+33T>C 0.558706 0.6696 0.478234 0.4996 0.6738 Uncertain 11_30255185_C->T 11 30255185 30255185 C T snp 2738.77 1/1 99 101 0 101 1.0 exonic rs6169 FSHB AR synonymous SNV NM_000510 exon3 c.C228T p.Y76Y 0.614816 0.6696 0.528457 0.5142 0.6746 Uncertain 11_30352473_-->AG 11 30352473 30352473 - AG indel 1987.73 1/1 99 37 0 37 1.0 UTR5 rs35824273 ARL14EP AU 0.6882 0.8996 Uncertain 11_30353024_A->G 11 30353024 30353024 A G snp 225.84 1/1 18 7 0 7 1.0 intronic rs3858431 ARL14EP AU NM_152316 exon2 c.426+103A>G 0.312101 0.6012 Uncertain 11_30354707_G->T 11 30354707 30354707 G T snp 337.78 1/1 27 9 0 9 1.0 intronic rs1879671 ARL14EP AU NM_152316 exon3 c.2045+167G>T 0.430112 0.6062 Uncertain 11_30358033_CT->- 11 30358033 30358034 CT - indel 774.73 1/1 48 16 0 16 1.0 intronic rs149772521 ARL14EP AU NM_152316 exon4 c.5618-80_5618-79delCT 0.310304 0.6002 Uncertain 11_30435599_G->A 11 30435599 30435599 G A snp 213.77 0/1 99 15 7 8 0.53 intronic rs10767842 MPPED2 AU NM_001145399 exon2 c.25339-175G>A 0.102835 0.1419 Uncertain 11_30438948_C->T 11 30438948 30438948 C T snp 218.84 1/1 18 6 0 6 1.0 intronic rs492604 MPPED2 AU NM_001145399 exon3 c.28629-116C>T 0.897564 0.997 Uncertain 11_30438959_T->- 11 30438959 30438959 T - indel 105.19 1/1 4 9 1 8 0.89 intronic rs11354702 MPPED2 AU NM_001145399 exon3 c.28629-105delT 0.741214 0.7966 Uncertain 11_30601734_T->- 11 30601734 30601734 T - indel 365.73 0/1 99 40 24 16 0.4 intronic rs397812984 MPPED2 AU NM_001145399 exon6 c.191357-58delT 0.466653 0.629 Uncertain 11_30915919_G->A 11 30915919 30915919 G A snp 488.77 0/1 99 39 20 19 0.49 exonic rs189796496 DCDC5 AU nonsynonymous SNV NM_020869 exon16 c.C2090T p.A697V 0.000798722 0.004 0.000083 0.0004 0.0037 0.93 T 1.000 N -1.055 T Pathogenic 11_31326332_G->A 11 31326332 31326332 G A snp 270.77 0/1 99 41 29 12 0.29 intronic rs3847588 DCDC1 AU NM_181807 exon4 c.42552-829G>A 0.301917 0.3125 Uncertain 11_31327316_C->T 11 31327316 31327316 C T snp 1093.77 0/1 99 134 82 52 0.39 exonic rs2616815 DCDC1 AU synonymous SNV NM_181807 exon6 c.G600A p.E200E 0.679712 0.3839 0.736194 0.6515 0.3699 Uncertain 11_31447909_T->- 11 31447909 31447909 T - indel 392.74 0/1 26 22 3 19 0.86 intronic rs11304707 DNAJC24 AU NM_181706 exon4 c.55607+7delT 0.322085 0.3016 0.275853 0.2781 0.3033 Uncertain 11_31447934_A->- 11 31447934 31447934 A - indel 175.73 0/1 55 16 3 13 0.81 intronic rs11304706 DNAJC24 AU NM_181706 exon4 c.55607+32delA 0.444888 0.3155 0.390977 0.2946 0.2769 Uncertain 11_31458730_T->G 11 31458730 31458730 T G snp 688.77 1/1 51 24 0 24 1.0 intronic rs7479413 IMMP1L AU NM_001304274 exon2 c.1071+3613T>G 0.998403 0.9921 0.9995 0.9846 Uncertain 11_31478058_T->G 11 31478058 31478058 T G snp 274.77 0/1 99 27 18 9 0.33 intronic rs1223067 IMMP1L AU NM_001304274 exon3 c.23887+125T>G 0.452077 0.3135 Uncertain 11_31653956_C->A 11 31653956 31653956 C A snp 5946.77 1/1 99 214 1 213 1.0 splicing rs4922872 ELP4 AD NM_001288726 exon7 c.122621+4C>A 0.982228 1 0.987227 0.9960 1 Pathogenic 11_31812215_A->C 11 31812215 31812215 A C snp 1983.77 1/1 99 76 0 76 1.0 intronic rs3026393 PAX6 AU,AD NM_000280 exon2 c.776-42A>C 0.454273 0.4583 0.447008 0.4860 0.4478 Uncertain 11_31812582_C->T 11 31812582 31812582 C T snp 556.77 1/1 42 23 0 23 1.0 intronic rs2071754 PAX6 AU,AD NM_000280 exon2 c.927+174C>T 0.620208 0.494 Uncertain 11_31815896_T->A 11 31815896 31815896 T A snp 370.77 1/1 30 10 0 10 1.0 intronic rs2239789 PAX6 AU,AD NM_000280 exon5 c.4181+234T>A 0.458267 0.4573 Uncertain 11_31838252_-->G 11 31838252 31838252 - G indel 1169.73 1/1 87 30 0 30 1.0 ncRNA_intronic rs398015701 DKFZp686K1684 AU 0.9998 1 Uncertain 11_32113057_A->G 11 32113057 32113057 A G snp 2492.77 1/1 99 91 0 91 1.0 intronic rs223045 RCN1 AU NM_002901 exon1 c.254+61A>G 0.478834 0.7133 Uncertain 11_32118925_A->G 11 32118925 32118925 A G snp 2481.77 1/1 99 89 0 89 1.0 intronic rs223073 RCN1 AU NM_002901 exon2 c.6141+42A>G 0.996006 1 0.993769 0.9932 1 Uncertain 11_32119030_T->C 11 32119030 32119030 T C snp 103.77 0/1 99 12 7 5 0.42 intronic rs223072 RCN1 AU NM_002901 exon2 c.6141+147T>C 0.173323 0.2837 Uncertain 11_32121862_CTTG->- 11 32121862 32121865 CTTG - indel 220.73 0/1 99 13 8 5 0.38 intronic rs372830217 RCN1 AU NM_002901 exon4 c.9351-231_9351-228delCTTG 0.173123 0.2837 Uncertain 11_32122003_C->A 11 32122003 32122003 C A snp 1893.77 0/1 99 167 85 82 0.49 intronic rs2281411 RCN1 AU NM_002901 exon4 c.9351-90C>A 0.571685 0.6776 Uncertain 11_32122020_T->G 11 32122020 32122020 T G snp 2004.77 0/1 99 186 96 90 0.48 intronic rs2073223 RCN1 AU NM_002901 exon4 c.9351-73T>G 0.57528 0.6776 Uncertain 11_32122268_C->A 11 32122268 32122268 C A snp 472.77 1/1 36 14 0 14 1.0 intronic rs223065 RCN1 AU NM_002901 exon4 c.9412+114C>A 0.779952 0.9613 Uncertain 11_32124579_C->T 11 32124579 32124579 C T snp 3097.77 0/1 99 245 112 133 0.54 intronic rs223060 RCN1 AU NM_002901 exon5 c.12084-247C>T 0.1877 0.2837 0.2148 0.3066 Uncertain 11_32124685_G->A 11 32124685 32124685 G A snp 6638.77 1/1 99 246 1 245 1.0 intronic rs223059 RCN1 AU NM_002901 exon5 c.12084-141G>A 0.747404 0.9603 0.7424 0.9538 Uncertain 11_32124978_T->C 11 32124978 32124978 T C snp 2666.77 0/1 99 237 116 121 0.51 exonic rs4876 RCN1 AU synonymous SNV NM_002901 exon5 c.T840C p.H280H 0.479034 0.6776 0.433010 0.5127 0.6853 Uncertain 11_32125855_A->G 11 32125855 32125855 A G snp 1993.77 1/1 99 70 0 70 1.0 intronic rs223058 RCN1 AU NM_002901 exon6 c.13168-55A>G 0.776558 0.9613 Uncertain 11_32125961_C->T 11 32125961 32125961 C T snp 570.77 0/1 99 33 13 20 0.61 exonic rs11529889 RCN1 AU synonymous SNV NM_002901 exon6 c.C939T p.V313V 0.504593 0.6776 0.441624 0.5175 0.6786 Uncertain 11_32410774_A->G 11 32410774 32410774 A G snp 1141.77 0/1 99 98 50 48 0.49 intronic rs1799937 WT1 AU,AD,AO NM_001198552 exon1 c.122+49A>G 0.507987 0.7202 0.334026 0.3466 0.7181 Uncertain 11_32417669_A->T 11 32417669 32417669 A T snp 200.77 0/1 94 10 3 7 0.7 intronic rs5030277 WT1 AU,AD,AO NM_001198552 exon4 c.7199-133A>T 0.283147 0.6567 Uncertain 11_32417945_T->C 11 32417945 32417945 T C snp 510.77 0/1 99 38 18 20 0.53 exonic rs16754 WT1 AU,AD,AO synonymous SNV NM_024426 exon7 c.A1107G p.R369R 0.33147 0.6984 0.130288 0.2335 0.6932 1.0 P -0.979 T ID=COSM1353508;OCCURENCE=1(large_intestine) Likely benign 11_32421654_T->C 11 32421654 32421654 T C snp 1983.77 0/1 99 158 71 87 0.55 intronic rs139299919 WT1 AU,AD,AO NM_001198552 exon5 c.10987+64T>C 0.00638978 0.0308 Uncertain 11_32437914_T->G 11 32437914 32437914 T G snp 79.77 0/1 99 8 4 4 0.5 intronic rs2234587 WT1 AU,AD,AO NM_024424 exon6 c.27432-121T>G 0.476837 0.7163 Uncertain 11_32439038_T->C 11 32439038 32439038 T C snp 834.77 0/1 99 56 24 32 0.57 intronic rs2295081 WT1 AU,AD,AO NM_001198552 exon6 c.28519-84T>C 0.496206 0.7163 Uncertain 11_32449417_C->G 11 32449417 32449417 C G snp 127.78 0/1 27 6 1 5 0.83 intronic rs5030171 WT1 AU,AD,AO NM_001198552 exon7 c.38898-84C>G 0.373003 0.7202 Uncertain 11_32449420_C->A 11 32449420 32449420 C A snp 123.78 0/1 27 6 1 5 0.83 intronic rs5030170 WT1 AU,AD,AO NM_001198552 exon7 c.38898-81C>A 0.373003 0.7202 Uncertain 11_32449661_G->A 11 32449661 32449661 G A snp 671.77 0/1 99 43 14 29 0.67 intronic rs2234585 WT1 AU,AD,AO NM_001198552 exon7 c.39001+57G>A 0.371206 0.7202 Uncertain 11_32452001_G->A 11 32452001 32452001 G A snp 56.77 0/1 85 21 17 4 0.19 intronic rs61889226 WT1 AU,AD,AO NM_001198552 exon9 c.41472-74G>A Uncertain 11_32452002_GAGA->- 11 32452002 32452005 GAGA - indel 625.73 1/1 36 21 2 19 0.9 intronic rs529663782 WT1 AU,AD,AO NM_001198552 exon9 c.41472-73_41472-70delGAGA Uncertain 11_32456562_G->A 11 32456562 32456562 G A snp 482.77 0/1 99 38 18 20 0.53 exonic rs1799925 WT1 AU,AD,AO synonymous SNV NM_024426 exon1 c.C330T p.P110P 0.303914 0.6855 0.3243 0.6429 Uncertain 11_32460575_T->C 11 32460575 32460575 T C snp 1100.77 0/1 99 127 78 49 0.39 ncRNA_exonic rs11031784 WT1-AS AU 0.489217 0.7431 0.331872 0.3804 0.7341 Uncertain 11_32460624_G->C 11 32460624 32460624 G C snp 1307.77 0/1 99 87 32 55 0.63 ncRNA_exonic rs3087923 WT1-AS AU 0.280152 0.2282 0.254466 0.2250 0.2382 Uncertain 11_32460676_C->T 11 32460676 32460676 C T snp 370.77 0/1 99 51 36 15 0.29 ncRNA_exonic rs34163689 WT1-AS AU 0.278954 0.6687 0.089192 0.2614 0.6685 Uncertain 11_32697291_A->G 11 32697291 32697291 A G snp 739.77 1/1 54 28 0 28 1.0 intronic rs7116464 CCDC73 AU NM_001008391 exon10 c.72834+101A>G 0.64996 0.8304 Uncertain 11_32704946_C->A 11 32704946 32704946 C A snp 1016.77 1/1 72 38 0 38 1.0 intronic rs1396995 CCDC73 AU NM_001008391 exon12 c.80725-135C>A 0.812899 0.9335 Uncertain 11_32722320_A->T 11 32722320 32722320 A T snp 192.9 1/1 15 9 0 9 1.0 intronic rs11031943 CCDC73 AU NM_001008391 exon14 c.97980-16A>T 0.365815 0.7698 0.189068 0.3033 0.7766 Uncertain 11_32781829_-->A 11 32781829 32781829 - A indel 142.8 1/1 18 7 0 7 1.0 intronic rs11442361 CCDC73 AU NM_001008391 exon17 c.157448+25insA 0.660343 0.8294 0.567316 0.6010 0.8469 Uncertain 11_32874926_G->A 11 32874926 32874926 G A snp 2141.77 0/1 99 191 101 90 0.47 exonic rs11032025 PRRG4 AU synonymous SNV NM_024081 exon6 c.G534A p.P178P 0.405351 0.4127 0.378403 0.4000 0.3861 Uncertain 11_32949463_-->T 11 32949463 32949463 - T indel 154.75 1/1 24 8 0 8 1.0 intronic rs146740108 QSER1 AU 0.802915 0.8819 Uncertain 11_32954344_G->A 11 32954344 32954344 G A snp 7111.77 1/1 99 228 0 228 1.0 exonic rs1022586 QSER1 AU nonsynonymous SNV NM_001076786 exon4 c.G1153A p.V385I 0.971246 1 0.972715 0.9915 1 1 T 0.000 P -0.960 T 0.0 T 0.0 T Pathogenic 11_32956244_A->G 11 32956244 32956244 A G snp 4239.77 1/1 99 142 0 142 1.0 exonic rs7940077 QSER1 AU nonsynonymous SNV NM_001076786 exon4 c.A3053G p.N1018S 0.971845 1 0.973063 0.9916 1 1 T 0.000 P -0.954 T 0.006 T 0.005 T Pathogenic 11_32956620_A->G 11 32956620 32956620 A G snp 5302.77 1/1 99 164 0 164 1.0 exonic rs7481878 QSER1 AU synonymous SNV NM_001076786 exon4 c.A3429G p.P1143P 0.797923 0.995 0.750084 0.8249 0.9966 1.0 P -1.007 T Likely benign 11_32975333_T->G 11 32975333 32975333 T G snp 2494.77 1/1 99 87 0 87 1.0 intronic rs7395190 QSER1 AU NM_001076786 exon5 c.25830-69T>G 0.798323 0.995 Uncertain 11_32990842_G->T 11 32990842 32990842 G T snp 166.9 1/1 15 5 0 5 1.0 intronic rs6416072 QSER1 AU NM_001076786 exon10 c.41117+153G>T 0.941494 1 Uncertain 11_33014668_G->A 11 33014668 33014668 G A snp 608.77 1/1 45 22 0 22 1.0 intergenic rs7941237 QSER1 AU 0.785543 0.995 0.8294 0.9943 Uncertain 11_33054754_C->G 11 33054754 33054754 C G snp 306.78 1/1 24 11 0 11 1.0 intronic rs2273539 DEPDC7 AU NM_139160 exon9 c.16722-53C>G 0.761382 0.8829 Uncertain 11_33076191_T->C 11 33076191 33076191 T C snp 3870.77 1/1 99 138 2 136 0.99 exonic rs2273544 TCP11L1 AU synonymous SNV NM_001145541 exon3 c.T216C p.G72G 0.717053 0.881 0.710077 0.7043 0.8794 Uncertain 11_33078230_A->G 11 33078230 33078230 A G snp 145.77 0/1 99 23 14 9 0.39 intronic rs77368109 TCP11L1 AU NM_018393 exon4 c.13341-430A>G 0.119209 0.123 0.2119 0.1552 Uncertain 11_33079580_A->G 11 33079580 33079580 A G snp 1149.77 0/1 99 108 56 52 0.48 exonic rs2273549 TCP11L1 AU nonsynonymous SNV NM_001145541 exon5 c.A533G p.K178R 0.119209 0.122 0.152077 0.1495 0.1185 0.000 P -0.929 T 0.003 T 0.015 T Pathogenic 11_33080407_G->C 11 33080407 33080407 G C snp 381.77 0/1 99 19 6 13 0.68 intronic rs112498700 TCP11L1 AU NM_018393 exon6 c.15185-97G>C 0.195687 0.3393 Uncertain 11_33106908_-->TTTATAG 11 33106908 33106908 - TTTATAG indel 2696.73 0/1 99 48 12 36 0.75 intronic rs3834432 CSTF3 AU NM_001326 exon1 c.203+73insTTTATAG 0.595447 0.6042 Uncertain 11_33113653_T->C 11 33113653 33113653 T C snp 531.77 0/1 99 37 19 18 0.49 intronic rs7950763 CSTF3 AU NM_001326 exon6 c.7184-163T>C 0.514177 0.6062 Uncertain 11_33113910_-->T 11 33113910 33113910 - T indel 955.73 0/1 99 90 39 51 0.57 intronic rs113144162 CSTF3 AU NM_001326 exon6 c.7254+24insT 0.542732 0.6277 0.5980 Uncertain 11_33183017_A->G 11 33183017 33183017 A G snp 511.77 0/1 99 43 22 21 0.49 UTR5 rs3736213 CSTF3 AU 0.513978 0.6062 Uncertain 11_33350325_C->T 11 33350325 33350325 C T snp 96.28 1/1 9 3 0 3 1.0 intronic rs266491 HIPK3 AU NM_005734 exon3 c.42219+146C>T 1 1 Uncertain 11_33360783_A->G 11 33360783 33360783 A G snp 341.77 0/1 99 17 6 11 0.65 intronic rs3847592 HIPK3 AU NM_005734 exon6 c.52935-112A>G 0.521765 0.6042 Uncertain 11_33360887_T->- 11 33360887 33360887 T - indel 4729.73 1/1 99 122 0 122 1.0 intronic rs5790925 HIPK3 AU NM_005734 exon6 c.52935-8delT 1 1 1 1 Uncertain 11_33362723_G->T 11 33362723 33362723 G T snp 591.77 0/1 99 51 25 26 0.51 intronic rs266470 HIPK3 AU NM_005734 exon7 c.54713+50G>T 0.672324 0.6071 0.715445 0.6887 0.5898 Uncertain 11_33563598_C->T 11 33563598 33563598 C T snp 3371.77 0/1 99 250 112 138 0.55 upstream rs2076624 KIAA1549L AU 0.14397 0.3065 0.1084 0.2696 Uncertain 11_33564123_T->C 11 33564123 33564123 T C snp 3184.79 0/1 99 250 126 124 0.5 exonic rs2076623 KIAA1549L AU synonymous SNV NM_012194 exon1 c.T123C p.G41G 0.696885 0.6617 0.709051 0.6522 0.6647 Uncertain 11_33565593_C->T 11 33565593 33565593 C T snp 3133.77 0/1 99 250 135 115 0.46 exonic rs2235944 KIAA1549L AU synonymous SNV NM_012194 exon1 c.C1593T p.S531S 0.135383 0.3085 0.069420 0.1004 0.3136 Uncertain 11_33581262_G->A 11 33581262 33581262 G A snp 1126.77 0/1 99 97 51 46 0.47 intronic rs2281381 KIAA1549L AU NM_012194 exon6 c.17294-32G>A 0.383187 0.3264 0.405616 0.3856 0.3283 Uncertain 11_33581306_G->A 11 33581306 33581306 G A snp 2116.77 0/1 99 156 69 87 0.56 exonic rs2281380 KIAA1549L AU synonymous SNV NM_012194 exon6 c.G2976A p.T992T 0.388978 0.3264 0.410269 0.3877 0.3313 1.000 P -0.931 T Likely benign 11_33581538_CCACATACTA->- 11 33581538 33581547 CCACATACTA - indel 2560.73 0/1 99 44 12 32 0.73 intronic rs3830851 KIAA1549L AU NM_012194 exon6 c.17457+81_17457+90delCCACATACTA 0.415335 0.3274 Uncertain 11_33604885_C->T 11 33604885 33604885 C T snp 318.77 0/1 99 30 18 12 0.4 exonic rs2273117 KIAA1549L AU synonymous SNV NM_012194 exon10 c.C3513T p.P1171P 0.194289 0.3591 0.185406 0.2859 0.4218 0 D 1.0 P -0.982 T Likely benign 11_33604960_C->T 11 33604960 33604960 C T snp 786.77 0/1 99 89 54 35 0.39 exonic rs2273115 KIAA1549L AU synonymous SNV NM_012194 exon10 c.C3588T p.I1196I 0.177316 0.3591 0.167422 0.2742 0.4184 1.0 P -0.942 T Likely benign 11_33628103_T->G 11 33628103 33628103 T G snp 748.77 0/1 99 50 21 29 0.58 intronic rs2076626 KIAA1549L AU NM_012194 exon13 c.64186-83T>G 0.189097 0.3611 Uncertain 11_33628117_A->C 11 33628117 33628117 A C snp 778.77 0/1 99 57 26 31 0.54 intronic rs2076625 KIAA1549L AU NM_012194 exon13 c.64186-69A>C 0.384784 0.3621 Uncertain 11_33631423_G->A 11 33631423 33631423 G A snp 1094.77 0/1 99 119 72 47 0.39 exonic rs2076622 KIAA1549L AU synonymous SNV NM_012194 exon14 c.G4299A p.K1433K 0.451677 0.3839 0.432321 0.4149 0.3973 0.998 P -1.053 T Likely benign 11_33640104_A->C 11 33640104 33640104 A C snp 5231.77 1/1 99 187 0 187 1.0 exonic rs768474 KIAA1549L AU synonymous SNV NM_012194 exon15 c.A4414C p.R1472R 0.745607 0.747 0.733026 0.6865 0.7661 Uncertain 11_33667333_A->G 11 33667333 33667333 A G snp 2420.77 0/1 99 249 148 101 0.41 exonic rs1033543 KIAA1549L AU synonymous SNV NM_012194 exon16 c.A4620G p.T1540T 0.707668 0.7232 0.711608 0.6534 0.7280 Uncertain 11_33667596_T->C 11 33667596 33667596 T C snp 190.77 0/1 99 19 10 9 0.47 intronic rs1033542 KIAA1549L AU NM_012194 exon16 c.103582+14T>C 0.608626 0.7192 0.620391 0.6329 0.7383 Uncertain 11_33680249_G->A 11 33680249 33680249 G A snp 186.77 0/1 99 15 7 8 0.53 intronic rs11032332 KIAA1549L AU NM_012194 exon18 c.116295-46G>A 0.28774 0.3343 0.235950 0.3071 0.3305 Uncertain 11_33680263_A->T 11 33680263 33680263 A T snp 224.77 0/1 99 21 11 10 0.48 intronic rs12226271 KIAA1549L AU NM_012194 exon18 c.116295-32A>T 0.282149 0.3343 0.230903 0.3305 0.3669 Uncertain 11_33680371_C->T 11 33680371 33680371 C T snp 1592.77 0/1 99 112 55 57 0.51 exonic rs12280103 KIAA1549L AU synonymous SNV NM_012194 exon18 c.C5043T p.S1681S 0.296326 0.3343 0.250366 0.3623 0.4408 Uncertain 11_33680613_A->G 11 33680613 33680613 A G snp 243.77 0/1 99 20 12 8 0.4 intronic rs2295064 KIAA1549L AU NM_012194 exon18 c.116444+169A>G 0.297125 0.3353 Uncertain 11_33682351_G->A 11 33682351 33682351 G A snp 717.77 0/1 99 45 22 23 0.51 intronic rs2295063 KIAA1549L AU NM_012194 exon19 c.118408-57G>A 0.0644968 0.2014 Uncertain 11_33719821_T->C 11 33719821 33719821 T C snp 822.77 1/1 60 25 0 25 1.0 UTR3 rs831611 C11orf91 AU 0.705871 0.5714 Uncertain 11_33719850_A->G 11 33719850 33719850 A G snp 1261.77 1/1 90 46 0 46 1.0 UTR3 rs831612 C11orf91 AU 0.329473 0.4474 Uncertain 11_33773161_G->C 11 33773161 33773161 G C snp 828.77 1/1 60 32 0 32 1.0 intronic rs7479064 FBXO3 AU NM_033406 exon4 c.4487+8G>C 0.968051 1 0.967913 0.9907 0.9999 Uncertain 11_33775982_A->G 11 33775982 33775982 A G snp 1184.77 1/1 84 46 0 46 1.0 intronic rs2272065 FBXO3 AU NM_033406 exon5 c.7334-18A>G 0.34365 0.2897 0.343130 0.3830 0.2949 Uncertain 11_33779901_G->A 11 33779901 33779901 G A snp 113.77 0/1 99 7 3 4 0.57 intronic rs2272066 FBXO3 AU NM_033406 exon7 c.11366-131G>A 0.00339457 0.0169 Uncertain 11_33795782_C->A 11 33795782 33795782 C A snp 100.77 0/1 99 8 4 4 0.5 intronic rs1402957 FBXO3 AU NM_033406 exon10 c.27273-157C>A 0.246006 0.1895 Uncertain 11_33881016_T->C 11 33881016 33881016 T C snp 1126.77 0/1 99 104 51 53 0.51 exonic rs3740617 LMO2 AU synonymous SNV NM_001142316 exon3 c.A363G p.K121K 0.5625 0.4921 0.572154 0.6001 0.5145 Uncertain 11_33886294_A->G 11 33886294 33886294 A G snp 2974.77 0/1 99 224 102 122 0.54 exonic rs2038602 LMO2 AU synonymous SNV NM_001142316 exon2 c.T111C p.I37I 0.434305 0.4067 0.461308 0.4118 0.3905 Uncertain 11_33886547_C->T 11 33886547 33886547 C T snp 1962.77 0/1 99 135 58 77 0.57 intronic rs3824848 LMO2 AU NM_005574 exon2 c.5462+184C>T 0.405551 0.5089 Uncertain 11_33891357_G->C 11 33891357 33891357 G C snp 110.77 0/1 99 11 7 4 0.36 UTR5 rs11032432 LMO2 AU 0.434904 0.3958 Uncertain 11_34093350_T->- 11 34093350 34093350 T - indel 1582.73 1/1 99 45 0 45 1.0 intronic rs10718447 CAPRIN1 AU NM_203364 exon3 c.19368+15delT 0.991813 1 0.991693 0.9975 1 Uncertain 11_34107785_G->A 11 34107785 34107785 G A snp 1640.77 1/1 99 51 0 51 1.0 intronic rs4755360 CAPRIN1 AU NM_203364 exon10 c.33799+19G>A 0.991414 1 0.991615 0.9974 1 Uncertain 11_34113717_C->T 11 34113717 34113717 C T snp 3354.77 1/1 99 106 0 106 1.0 intronic rs2982592 CAPRIN1 AU NM_203364 exon15 c.39636+114C>T 0.992212 1 Uncertain 11_34149199_T->C 11 34149199 34149199 T C snp 349.78 1/1 27 10 0 10 1.0 intronic rs2957512 NAT10 AU NM_024662 exon12 c.19374+53T>C 0.997804 1 Uncertain 11_34152939_T->C 11 34152939 34152939 T C snp 3822.77 1/1 99 142 0 142 1.0 exonic rs2957516 NAT10 AU nonsynonymous SNV NM_024662 exon14 c.T1381C p.Y461H 0.997804 1 0.997462 0.9993 1 0.49 T 1.0 P -0.945 T 0.0 T 0.0 T Pathogenic 11_34154641_C->T 11 34154641 34154641 C T snp 3313.77 1/1 99 131 0 131 1.0 exonic rs2957518 NAT10 AU synonymous SNV NM_024662 exon16 c.C1686T p.P562P 0.860423 1 0.848692 0.9337 0.9999 Uncertain 11_34158411_A->G 11 34158411 34158411 A G snp 2552.77 1/1 99 71 0 71 1.0 intronic rs2982615 NAT10 AU NM_024662 exon20 c.28550+89A>G 0.997204 1 Uncertain 11_34158431_T->C 11 34158431 34158431 T C snp 2954.77 1/1 99 93 0 93 1.0 intronic rs2957521 NAT10 AU NM_024662 exon21 c.28752-93T>C 0.997404 1 Uncertain 11_34160571_G->A 11 34160571 34160571 G A snp 80.77 0/1 99 6 3 3 0.5 intronic rs78096877 NAT10 AU NM_024662 exon22 c.30965-166G>A 0.00638978 0.0317 Uncertain 11_34163705_T->C 11 34163705 34163705 T C snp 3557.77 1/1 99 128 1 127 0.99 intronic rs2982612 NAT10 AU NM_024662 exon27 c.34049-116T>C 0.997804 1 Uncertain 11_34174296_T->C 11 34174296 34174296 T C snp 54.74 1/1 6 2 0 2 1.0 intronic rs2473929 ABTB2 AU NM_145804 exon1 c.198+165T>C 0.870807 1 Uncertain 11_34176214_A->G 11 34176214 34176214 A G snp 1397.77 1/1 99 44 0 44 1.0 intronic rs2957525 ABTB2 AU NM_145804 exon3 c.2314-33A>G 0.997804 1 0.995308 0.9989 1 Uncertain 11_34181365_C->T 11 34181365 34181365 C T snp 166.77 0/1 99 11 3 8 0.73 intronic rs150092705 ABTB2 AU NM_145804 exon5 c.7519-87C>T 0.00219649 0.0089 Uncertain 11_34188982_A->G 11 34188982 34188982 A G snp 1671.77 1/1 99 61 0 61 1.0 intronic rs7120749 ABTB2 AU NM_145804 exon11 c.14974+75A>G 0.865216 1 Uncertain 11_34189564_A->G 11 34189564 34189564 A G snp 4058.77 1/1 99 143 0 143 1.0 intronic rs4756111 ABTB2 AU NM_145804 exon12 c.15606+25A>G 0.867212 1 0.858154 0.8954 0.9993 Uncertain 11_34226041_A->G 11 34226041 34226041 A G snp 3432.77 1/1 99 141 0 141 1.0 intronic rs2955944 ABTB2 AU NM_145804 exon16 c.52157-49A>G 0.955072 1 0.950154 0.9862 1 Uncertain 11_34378381_G->C 11 34378381 34378381 G C snp 2252.77 0/1 99 185 95 90 0.49 exonic rs1925368 ABTB2 AU nonsynonymous SNV NM_145804 exon1 c.C750G p.H250Q 0.178914 0.373 0.125635 0.1217 0.4014 0.65 T 0.000 P -0.954 T 0.0 T 0.0 T Pathogenic 11_34379220_C->T 11 34379220 34379220 C T snp 228.77 0/1 99 13 6 7 0.54 UTR5 rs3740795 ABTB2 AU 0.179313 0.374 Uncertain 11_34460472_A->T 11 34460472 34460472 A T snp 1956.77 0/1 99 167 80 87 0.52 UTR5 rs7943316 CAT AU 0.488019 0.2629 Uncertain 11_34460541_T->C 11 34460541 34460541 T C snp 2768.77 0/1 99 250 128 122 0.49 UTR5 rs1049982 CAT AU 0.528754 0.2728 0.631090 0.6749 0.4416 Uncertain 11_34460704_C->T 11 34460704 34460704 C T snp 1532.77 0/1 99 102 46 56 0.55 intronic rs10836235 CAT AU NM_001752 exon1 c.66+78C>T 0.125399 0.3036 Uncertain 11_34460711_G->A 11 34460711 34460711 G A snp 904.77 0/1 99 81 44 37 0.46 intronic rs12270780 CAT AU NM_001752 exon1 c.66+85G>A 0.305312 0.2321 Uncertain 11_34470679_G->A 11 34470679 34470679 G A snp 247.77 0/1 99 17 9 8 0.47 intronic rs769218 CAT AU NM_001752 exon2 c.10178-59G>A 0.26238 0.504 Uncertain 11_34477876_G->C 11 34477876 34477876 G C snp 46.77 0/1 33 3 1 2 0.67 intronic rs2073059 CAT AU NM_001752 exon7 c.17189+127G>C 0.127796 0.3046 Uncertain 11_34478073_A->G 11 34478073 34478073 A G snp 389.77 0/1 99 30 16 14 0.47 intronic rs2073058 CAT AU NM_001752 exon8 c.17651-138A>G 0.240615 0.2302 Uncertain 11_34482908_C->T 11 34482908 34482908 C T snp 2189.77 0/1 99 181 86 95 0.52 exonic rs769217 CAT AU synonymous SNV NM_001752 exon9 c.C1167T p.D389D 0.26278 0.5 0.211231 0.2417 0.4617 ID=CM025323;DIS=Vitiligo susceptibility, association with;TAG=DP;PUB=11837458 DP Uncertain 11_34492443_C->A 11 34492443 34492443 C A snp 774.77 0/1 99 74 37 37 0.5 intronic rs17881488 CAT AU NM_001752 exon12 c.31944-61C>A 0.130791 0.3026 Uncertain 11_34492747_T->C 11 34492747 34492747 T C snp 317.77 0/1 99 21 11 10 0.48 intronic rs12803540 CAT AU NM_001752 exon12 c.32028+159T>C 0.13758 0.3026 Uncertain 11_34502042_C->T 11 34502042 34502042 C T snp 179.77 0/1 99 14 8 6 0.43 intronic rs7949972 ELF5 AU NM_198381 exon1 c.97+181C>T 0.419329 0.4345 Uncertain 11_34643721_T->C 11 34643721 34643721 T C snp 376.77 1/1 30 10 0 10 1.0 intronic rs286921 EHF AU 0.700679 0.4077 Uncertain 11_34643780_A->G 11 34643780 34643780 A G snp 548.77 0/1 99 51 32 19 0.37 intronic rs286920 EHF AU 0.331669 0.371 Uncertain 11_34644163_T->C 11 34644163 34644163 T C snp 176.9 1/1 15 5 0 5 1.0 intronic rs286919 EHF AU 0.701278 0.4077 Uncertain 11_34673052_G->- 11 34673052 34673052 G - indel 2073.73 0/1 99 106 47 59 0.56 intronic rs12721518 EHF AU NM_001206616 exon5 c.18952-36delG 0.373203 0.5179 0.266294 0.3263 0.5303 Uncertain 11_34673053_A->T 11 34673053 34673053 A T snp 1373.77 0/1 99 109 51 58 0.53 intronic rs201988979 EHF AU NM_001206616 exon5 c.18952-35A>T 0.373403 0.5179 0.3269 0.5319 Uncertain 11_34678435_C->G 11 34678435 34678435 C G snp 3738.77 1/1 99 143 1 142 0.99 intronic rs435537 EHF AU NM_001206616 exon7 c.24318-19C>G 0.943291 1 0.941538 0.9835 1 Uncertain 11_34680053_G->A 11 34680053 34680053 G A snp 1938.77 0/1 99 172 83 89 0.52 intronic rs3818514 EHF AU NM_001206616 exon8 c.25943-26G>A 0.297923 0.129 0.432538 0.4311 0.125 Uncertain 11_34680598_C->A 11 34680598 34680598 C A snp 231.77 0/1 99 24 14 10 0.42 UTR3 rs11032804 EHF AU 0.297923 0.129 Uncertain 11_34680634_G->A 11 34680634 34680634 G A snp 238.8 1/1 21 7 0 7 1.0 UTR3 rs286890 EHF AU 0.992412 1 Uncertain 11_34904399_C->T 11 34904399 34904399 C T snp 1002.77 0/1 99 91 46 45 0.49 intronic rs2288667 APIP AU NM_015957 exon1 c.100+36C>T 0.579473 0.7371 0.597368 0.6403 0.7489 Uncertain 11_34904509_T->G 11 34904509 34904509 T G snp 246.77 0/1 99 23 13 10 0.43 intronic rs2288668 APIP AU NM_015957 exon1 c.100+146T>G 0.647564 0.753 Uncertain 11_34905145_T->C 11 34905145 34905145 T C snp 722.77 0/1 99 48 18 30 0.63 intronic rs2303957 APIP AU NM_015957 exon2 c.788+94T>C 0.649361 0.753 Uncertain 11_34909828_A->- 11 34909828 34909828 A - indel 379.73 0/1 99 27 13 14 0.52 intronic rs35393135 APIP AU NM_015957 exon3 c.5576-11delA 0.579473 0.7371 0.598496 0.6526 0.7574 Uncertain 11_34909833_A->C 11 34909833 34909833 A C snp 440.77 0/1 99 33 17 16 0.48 intronic rs61752923 APIP AU NM_015957 exon3 c.5576-6A>C 0.579473 0.7371 0.6400 0.7484 Uncertain 11_34909926_T->G 11 34909926 34909926 T G snp 828.77 0/1 99 81 45 36 0.44 exonic rs1571133 APIP AU synonymous SNV NM_015957 exon5 c.A375C p.T125T 0.579473 0.7371 0.598154 0.6388 0.7475 Uncertain 11_34910077_G->A 11 34910077 34910077 G A snp 271.77 0/1 96 15 4 11 0.73 intronic rs1571134 APIP AU NM_015957 exon3 c.5712+102G>A 0.579673 0.7371 Uncertain 11_34910397_C->T 11 34910397 34910397 C T snp 404.77 0/1 99 46 29 17 0.37 exonic rs1977420 APIP AU nonsynonymous SNV NM_015957 exon4 c.G227A p.C76Y 0.457468 0.7371 0.340976 0.4042 0.7455 0.31 T 1.000 P -0.965 T 0.012 T 0.036 T Pathogenic 11_34910433_A->G 11 34910433 34910433 A G snp 407.77 0/1 99 46 28 18 0.39 intronic rs1977421 APIP AU NM_015957 exon4 c.6153+17A>G 0.579473 0.7371 0.590916 0.6435 0.7459 Uncertain 11_34911967_T->G 11 34911967 34911967 T G snp 44.77 0/1 33 3 1 2 0.67 intronic rs2303958 APIP AU NM_015957 exon5 c.7787-83T>G 0.457468 0.7371 Uncertain 11_34912013_A->G 11 34912013 34912013 A G snp 378.77 0/1 99 25 11 14 0.56 intronic rs2303959 APIP AU NM_015957 exon5 c.7787-37A>G 0.457468 0.7371 0.340668 0.4052 0.7482 Uncertain 11_34912289_T->A 11 34912289 34912289 T A snp 273.77 0/1 99 22 13 9 0.41 intronic rs2915224 APIP AU NM_015957 exon5 c.7836+190T>A 0.579473 0.7371 Uncertain 11_34916484_A->G 11 34916484 34916484 A G snp 438.77 0/1 99 48 28 20 0.42 intronic rs1326940 APIP AU NM_015957 exon6 c.12293-72A>G 0.579673 0.7371 Uncertain 11_34916710_A->G 11 34916710 34916710 A G snp 370.77 0/1 99 29 14 15 0.52 intronic rs1326941 APIP AU NM_015957 exon6 c.12394+53A>G 0.58147 0.7371 Uncertain 11_34918273_-->CAA 11 34918273 34918273 - CAA indel 1945.73 0/1 99 99 55 44 0.44 intronic rs34774694 APIP AU NM_015957 exon6 c.12394+1616insCAA 0.6131 0.7540 Uncertain 11_34918375_A->G 11 34918375 34918375 A G snp 2379.77 0/1 99 250 148 102 0.41 intronic rs2986429 APIP AU NM_015957 exon6 c.12394+1718A>G 0.650359 0.753 0.7120 0.7879 1 T 0.0 P -0.953 T Uncertain 11_34918543_A->G 11 34918543 34918543 A G snp 1159.77 0/1 99 65 26 39 0.6 intronic rs76436102 APIP AU NM_015957 exon6 c.12394+1886A>G 0.122005 0.0714 Uncertain 11_34937697_T->C 11 34937697 34937697 T C snp 54.74 1/1 6 2 0 2 1.0 UTR5 rs2016814 PDHX AR 0.772165 0.8244 Uncertain 11_34937813_G->A 11 34937813 34937813 G A snp 1017.77 0/1 99 102 56 46 0.45 exonic rs2956114 APIP AU nonsynonymous SNV NM_015957 exon1 c.C19T p.R7W 0.434704 0.7371 0.316697 0.4217 0.7498 0.05 T 0.001 P -0.944 T 0.74 T 0.075 P Pathogenic 11_34937884_G->A 11 34937884 34937884 G A snp 1058.77 0/1 99 109 57 52 0.48 UTR5 rs2956113 APIP AU 0.434704 0.7371 0.332310 0.4400 0.7591 Uncertain 11_34937901_A->G 11 34937901 34937901 A G snp 2599.77 1/1 99 105 0 105 1.0 UTR5 rs2956112 APIP AU 0.76258 0.8244 0.800570 0.7921 0.8554 Uncertain 11_34937931_G->A 11 34937931 34937931 G A snp 866.77 0/1 99 83 41 42 0.51 UTR5 rs2956111 APIP AU 0.457268 0.7371 0.5024 0.7747 0.44 T 0.974 P -1.000 T 0.007 T 0.002 T Uncertain 11_34938001_A->G 11 34938001 34938001 A G snp 383.77 0/1 99 39 23 16 0.41 UTR5 rs113073242 PDHX AR 0.192692 0.0873 0.2306 0.0652 0.43 T 0.000 P -0.898 T 0.0 T 0.0 T Uncertain 11_34938072_GGC->- 11 34938072 34938074 GGC - indel 575.73 0/1 99 40 27 13 0.33 UTR5 rs139999735 PDHX AR 0.170883 0.2302 0.14 Uncertain 11_34938079_G->C 11 34938079 34938079 G C snp 291.77 0/1 99 42 28 14 0.33 UTR5 rs375130125 PDHX AR 0.192492 0.0883 0.1761 0.1096 Uncertain 11_34938115_C->A 11 34938115 34938115 C A snp 663.77 0/1 99 44 16 28 0.64 UTR5 rs2956110 PDHX AR 0.571885 0.7371 Uncertain 11_34938199_C->G 11 34938199 34938199 C G snp 279.77 0/1 99 48 34 14 0.29 UTR5 rs3818401 PDHX AR 0.192492 0.0873 0.206538 0.1381 0.1004 Uncertain 11_34938265_C->T 11 34938265 34938265 C T snp 2106.77 1/1 99 84 0 84 1.0 exonic rs2956109 PDHX AR synonymous SNV NM_003477 exon1 c.C63T p.P21P 0.764577 0.8244 0.796769 0.7744 0.8473 Uncertain 11_34938269_C->T 11 34938269 34938269 C T snp 667.77 0/1 99 86 54 32 0.37 exonic rs1049306 PDHX AR nonsynonymous SNV NM_003477 exon1 c.C67T p.R23C 0.192492 0.0873 0.205692 0.1384 0.1015 0.19 T 0.0 P -0.930 T 0.002 T 0.001 T Pathogenic 11_34938310_T->C 11 34938310 34938310 T C snp 893.77 0/1 99 95 54 41 0.43 exonic rs1049307 PDHX AR synonymous SNV NM_003477 exon1 c.T108C p.S36S 0.192692 0.0873 0.205032 0.1677 0.1326 Uncertain 11_34938456_A->G 11 34938456 34938456 A G snp 99.77 0/1 99 16 12 4 0.25 intronic rs3818397 PDHX AR NM_003477 exon1 c.160+94A>G 0.192492 0.0873 Uncertain 11_34953055_C->A 11 34953055 34953055 C A snp 596.77 0/1 99 48 24 24 0.5 intronic rs12289218 PDHX AR NM_003477 exon2 c.14829+24C>A 0.192492 0.0873 0.205769 0.1412 0.1021 Uncertain 11_34953088_G->T 11 34953088 34953088 G T snp 261.77 0/1 99 22 11 11 0.5 intronic rs11032932 PDHX AR NM_003477 exon2 c.14829+57G>T 0.102835 0.0496 Uncertain 11_34953088_-->T 11 34953088 34953088 - T indel 149.74 1/1 29 22 0 22 1.0 intronic rs34345153 PDHX AR NM_003477 exon2 c.14829+57insT 0.534545 0.6488 Uncertain 11_34963224_C->T 11 34963224 34963224 C T snp 146.77 0/1 99 14 6 8 0.57 intronic rs2915190 PDHX AR NM_003477 exon3 c.30850-5828C>T 0.456869 0.7331 Uncertain 11_34963416_T->C 11 34963416 34963416 T C snp 1581.77 1/1 99 58 0 58 1.0 ncRNA_exonic rs2986407 MIR1343 AU 0.766773 0.7976 0.8095 . Uncertain 11_34963459_T->C 11 34963459 34963459 T C snp 511.77 0/1 99 36 13 23 0.64 ncRNA_exonic rs11032942 MIR1343 AU 0.1877 0.0645 0.2 . Uncertain 11_34978892_G->A 11 34978892 34978892 G A snp 805.77 0/1 99 50 20 30 0.6 intronic rs2243948 PDHX AR NM_003477 exon4 c.40728-38G>A 0.548722 0.7421 0.574750 0.6432 0.7570 Uncertain 11_34982146_T->G 11 34982146 34982146 T G snp 701.77 0/1 99 55 26 29 0.53 intronic rs2732554 PDHX AR NM_003477 exon5 c.43863+81T>G 0.567891 0.7421 Uncertain 11_34982148_C->A 11 34982148 34982148 C A snp 591.77 0/1 99 50 25 25 0.5 intronic rs2767036 PDHX AR NM_003477 exon5 c.43863+83C>A 0.550319 0.7421 Uncertain 11_34982233_A->G 11 34982233 34982233 A G snp 41.77 0/1 70 4 2 2 0.5 intronic rs2732555 PDHX AR NM_003477 exon5 c.43863+168A>G 0.568091 0.7421 Uncertain 11_34991727_T->C 11 34991727 34991727 T C snp 2053.77 0/1 99 227 128 99 0.44 exonic rs497582 PDHX AR synonymous SNV NM_003477 exon7 c.T858C p.V286V 0.570487 0.7421 0.597231 0.6438 0.7547 Uncertain 11_34999484_G->T 11 34999484 34999484 G T snp 691.77 1/1 51 18 0 18 1.0 intronic rs733567 PDHX AR NM_003477 exon8 c.61468-186G>T 0.78155 0.8065 Uncertain 11_34999745_C->G 11 34999745 34999745 C G snp 875.77 0/1 99 70 31 39 0.56 intronic rs10768108 PDHX AR NM_003477 exon8 c.61527+16C>G 0.495607 0.7421 0.510237 0.5994 0.7539 Uncertain 11_35161076_T->C 11 35161076 35161076 T C snp 988.77 0/1 99 102 55 47 0.46 intronic rs3751031 CD44 AU NM_001001390 exon1 c.67+159T>C 0.0994409 0.1855 Uncertain 11_35161285_A->G 11 35161285 35161285 A G snp 137.77 0/1 99 20 12 8 0.4 intronic rs75624136 CD44 AU NM_001001390 exon1 c.67+368A>G 0.0996406 0.1865 Uncertain 11_35198032_A->G 11 35198032 35198032 A G snp 1199.77 1/1 87 33 0 33 1.0 intronic rs4756195 CD44 AU NM_001001390 exon2 c.37271-89A>G 0.834265 0.8036 Uncertain 11_35208251_A->G 11 35208251 35208251 A G snp 475.77 1/1 36 15 0 15 1.0 intronic rs3736812 CD44 AU NM_001001390 exon4 c.47528-127A>G 0.247005 0.4474 Uncertain 11_35223158_T->C 11 35223158 35223158 T C snp 1899.77 1/1 99 61 0 61 1.0 intronic rs11033025 CD44 AU NM_001001389 exon8 c.62367-59T>C 0.829872 0.9315 Uncertain 11_35226155_A->G 11 35226155 35226155 A G snp 6762.77 1/1 99 249 0 249 1.0 exonic rs9666607 CD44 AU nonsynonymous SNV NM_000610 exon10 c.A1250G p.K417R 0.830272 0.9306 0.752385 0.7478 0.9319 0.57 T 1.000 P -1.010 T 0.0 T 0.002 T Pathogenic 11_35229673_T->C 11 35229673 35229673 T C snp 7348.77 1/1 99 250 0 250 1.0 exonic rs1467558 CD44 AU nonsynonymous SNV NM_000610 exon12 c.T1436C p.I479T 0.939097 0.999 0.863231 0.8807 0.9999 0.65 T 0.000 P -0.948 T 0.0 T 0.0 T Pathogenic 11_35244044_G->C 11 35244044 35244044 G C snp 2083.77 1/1 99 77 0 77 1.0 intronic rs7116739 CD44 AU NM_001202557 exon9 c.83071+123G>C 0.802316 0.995 Uncertain 11_35244058_A->G 11 35244058 35244058 A G snp 1800.77 1/1 99 64 0 64 1.0 intronic rs7116432 CD44 AU NM_001202557 exon9 c.83071+137A>G 0.466254 0.8105 CLINSIG=other;CLNDBN=Calcium_oxalate_urolithiasis;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000128596.1;CLNDSDB=MedGen:OMIM:SNOMED_CT;CLNDSDBID=C1833683:167030:444717006 Uncertain 11_35287000_-->T 11 35287000 35287000 - T indel 669.73 1/1 56 36 2 34 0.94 intronic rs35055326 SLC1A2 AU NM_001252652 exon2 c.4633-73insT 0.387979 0.4702 0.3736 0.4164 Uncertain 11_35314173_C->T 11 35314173 35314173 C T snp 631.77 0/1 99 42 20 22 0.52 intronic rs2281634 SLC1A2 AU NM_001252652 exon5 c.31627+106C>T 0.153355 0.2173 Uncertain 11_35323200_A->G 11 35323200 35323200 A G snp 1082.77 0/1 99 72 30 42 0.58 intronic rs2273689 SLC1A2 AU NM_001252652 exon6 c.40752+8A>G 0.552915 0.7123 0.532077 0.6382 0.7350 Uncertain 11_35333692_G->A 11 35333692 35333692 G A snp 343.77 0/1 99 33 18 15 0.45 intronic rs112136753 SLC1A2 AU NM_001252652 exon8 c.51304-52G>A 0.000199681 0.001 Uncertain 11_35338902_G->A 11 35338902 35338902 G A snp 1334.77 0/1 99 109 48 61 0.56 intronic rs2273686 SLC1A2 AU NM_001252652 exon10 c.56483-21G>A 0.158347 0.2103 0.102077 0.1128 0.1951 Uncertain 11_35344345_A->G 11 35344345 35344345 A G snp 1302.77 1/1 93 42 0 42 1.0 intronic rs7115450 SLC1A2 AU NM_001195728 exon11 c.61786+119A>G 0.851637 0.9236 Uncertain 11_35453797_C->- 11 35453797 35453797 C - indel 1020.73 1/1 78 26 0 26 1.0 UTR3 rs11344760 PAMR1 AU 1 1 Uncertain 11_35456453_G->C 11 35456453 35456453 G C snp 345.77 0/1 99 23 8 15 0.65 intronic rs675227 PAMR1 AU NM_015430 exon2 c.2449+101G>C 0.433506 0.25 Uncertain 11_35495997_T->A 11 35495997 35495997 T A snp 126.03 1/1 12 4 0 4 1.0 intronic rs16927509 PAMR1 AU NM_015430 exon9 c.42274-180T>A 0.313099 0.2917 Uncertain 11_35747375_A->G 11 35747375 35747375 A G snp 37.77 0/1 66 5 2 3 0.6 intronic rs12222279 TRIM44 AD NM_017583 exon3 c.62812-96A>G 0.0395367 0.126 Uncertain 11_36031593_G->A 11 36031593 36031593 G A snp 2645.77 1/1 99 90 0 90 1.0 intronic rs262404 LDLRAD3 AU NM_174902 exon2 c.92004-26059G>A 0.865815 0.9742 Uncertain 11_36103228_A->G 11 36103228 36103228 A G snp 2854.77 0/1 99 250 138 112 0.45 exonic rs1138807 LDLRAD3 AU synonymous SNV NM_001304263 exon2 c.A72G p.P24P 0.341054 0.3522 0.354692 0.3511 0.3606 Uncertain 11_36103381_A->G 11 36103381 36103381 A G snp 1765.77 0/1 99 124 58 66 0.53 intronic rs3740962 LDLRAD3 AU NM_174902 exon3 c.137680+53A>G 0.484425 0.6339 Uncertain 11_36103442_C->G 11 36103442 36103442 C G snp 529.77 0/1 99 34 17 17 0.5 intronic rs11033408 LDLRAD3 AU NM_174902 exon3 c.137680+114C>G 0.25599 0.3522 Uncertain 11_36120177_G->A 11 36120177 36120177 G A snp 593.77 0/1 99 40 18 22 0.55 intronic rs2291876 LDLRAD3 AU NM_174902 exon4 c.154363+166G>A 0.242013 0.2609 Uncertain 11_36248600_CTT->- 11 36248600 36248602 CTT - indel 3127.73 0/1 99 111 53 58 0.52 intronic rs369244883 LDLRAD3 AU NM_174902 exon5 c.282986-34_282986-32delCTT 0.0004 0.0045 Uncertain 11_36251046_G->A 11 36251046 36251046 G A snp 3272.77 1/1 99 115 0 115 1.0 UTR3 rs4755444 LDLRAD3 AU 0.583067 0.7292 Uncertain 11_36293048_G->A 11 36293048 36293048 G A snp 1849.77 1/1 99 66 0 66 1.0 downstream rs7107433 COMMD9 AU 0.655152 0.6905 0.656855 0.6287 0.7234 Uncertain 11_36298555_C->T 11 36298555 36298555 C T snp 725.84 1/1 18 27 1 26 0.96 intronic rs2289986 COMMD9 AU NM_014186 exon3 c.2457-83C>T 0.657149 0.6905 Uncertain 11_36310677_C->T 11 36310677 36310677 C T snp 33.77 0/1 62 5 2 3 0.6 intronic rs12418067 COMMD9 AU NM_014186 exon6 c.14730-234C>T 0.16873 0.247 Uncertain 11_36311014_G->T 11 36311014 36311014 G T snp 756.77 1/1 54 29 0 29 1.0 upstream rs7939948 COMMD9 AU 0.508387 0.5129 0.504950 0.5114 0.5419 Uncertain 11_36422792_G->A 11 36422792 36422792 G A snp 5408.77 1/1 99 197 0 197 1.0 exonic rs330261 PRR5L AU nonsynonymous SNV NM_001160169 exon1 c.G121A p.A41T 0.833666 0.9673 0.819769 0.8907 0.9582 0.23 T 0.0 P -0.955 T 0.001 T 0.002 T Pathogenic 11_36440836_A->G 11 36440836 36440836 A G snp 1195.77 0/1 99 102 51 51 0.5 exonic rs11555379 PRR5L AU nonsynonymous SNV NM_001160168 exon2 c.A34G p.I12V 0.0209665 0.0317 0.013923 0.0107 0.0452 0.04 T 0.999 D -0.437 T 0.995 D 0.991 D Pathogenic 11_36453247_C->A 11 36453247 36453247 C A snp 342.77 0/1 99 28 16 12 0.43 intronic rs746762 PRR5L AU NM_001160169 exon4 c.30731-155C>A 0.283546 0.4038 Uncertain 11_36453506_T->C 11 36453506 36453506 T C snp 1451.77 0/1 99 89 31 58 0.65 intronic rs746761 PRR5L AU NM_001160169 exon4 c.30789+46T>C 0.522963 0.6181 0.446385 0.4389 0.6197 Uncertain 11_36458777_C->A 11 36458777 36458777 C A snp 1038.77 0/1 99 70 33 37 0.53 intronic rs577054 PRR5L AU NM_001160169 exon5 c.36263-157C>A 0.289137 0.4683 Uncertain 11_36459130_T->C 11 36459130 36459130 T C snp 255.77 0/1 99 20 11 9 0.45 intronic rs4756316 PRR5L AU NM_001160169 exon5 c.36355+104T>C 0.611422 0.7659 Uncertain 11_36472800_A->G 11 36472800 36472800 A G snp 1852.77 0/1 99 128 57 71 0.55 exonic rs3740958 PRR5L AU synonymous SNV NM_001160168 exon5 c.A243G p.Q81Q 0.204673 0.377 0.140846 0.1579 0.3806 Uncertain 11_36484208_T->C 11 36484208 36484208 T C snp 2531.77 1/1 99 94 0 94 1.0 exonic rs514352 PRR5L AU synonymous SNV NM_001160168 exon6 c.T645C p.T215T 0.994808 1 0.995073 0.9982 0.9998 Uncertain 11_36514290_T->C 11 36514290 36514290 T C snp 256.8 1/1 21 9 0 9 1.0 intronic rs2303439 TRAF6 AU NM_004620 exon2 c.2791+112T>C 0.771965 0.878 Uncertain 11_36518824_-->A 11 36518824 36518824 - A indel 3463.73 1/1 99 117 0 117 1.0 intronic rs3830511 TRAF6 AU NM_004620 exon4 c.7429+8insA 0.77516 0.873 0.8225 0.8812 Uncertain 11_36595600_A->G 11 36595600 36595600 A G snp 4401.77 1/1 99 156 0 156 1.0 exonic rs3740955 RAG1 AU,AR nonsynonymous SNV NM_000448 exon2 c.A746G p.H249R 0.613419 0.756 0.468308 0.4470 0.7808 0.08 T 0.0 P -0.923 T 0.0 T 0.0 T CLINSIG=non-pathogenic;CLNDBN=not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000127709.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 ID=CM122460;DIS=Immunodeficiency, severe combined;TAG=DM?;PUB=22424479 DM? Pathogenic 11_36597313_A->G 11 36597313 36597313 A G snp 6634.77 1/1 99 231 0 231 1.0 exonic rs2227973 RAG1 AU,AR nonsynonymous SNV NM_000448 exon2 c.A2459G p.K820R 0.257987 0.5665 0.111923 0.1866 0.5994 0 D 1.000 P -0.949 T 0.001 T 0.006 T ID=CM068079;DIS=Non-Hodgkin lymphoma, increased risk, association with;TAG=DP;PUB=16857995 DP Pathogenic 11_36612090_C->T 11 36612090 36612090 C T snp 792.77 1/1 57 30 0 30 1.0 intergenic rs1818545 RAG1 AU,AR 0.474441 0.6022 Uncertain 11_36655089_A->G 11 36655089 36655089 A G snp 397.77 1/1 30 14 0 14 1.0 intronic rs3758874 C11orf74 AU NM_001276722 exon3 c.23335+101A>G 0.266773 0.5823 Uncertain 11_36669778_C->T 11 36669778 36669778 C T snp 3487.77 1/1 99 116 0 116 1.0 intronic rs1566245 C11orf74 AU NM_001276722 exon5 c.38052+73C>T 0.611022 0.7579 Uncertain 11_40137543_T->C 11 40137543 40137543 T C snp 2802.77 0/1 99 237 123 114 0.48 exonic rs2953310 LRRC4C AU synonymous SNV NM_020929 exon5 c.A300G p.R100R 0.499401 0.6052 0.498155 0.4299 0.6243 Uncertain 11_42209105_-->A 11 42209105 42209105 - A indel 687.73 1/1 40 32 2 30 0.94 downstream rs11416548 LOC100507205 AU Uncertain 11_42259731_G->A 11 42259731 42259731 G A snp 1466.77 0/1 99 170 98 72 0.42 ncRNA_intronic rs11036779 LOC100507205 AU 0.157348 0.1786 0.1893 0.1742 Uncertain 11_42262449_G->C 11 42262449 42262449 G C snp 96.77 0/1 99 14 10 4 0.29 ncRNA_intronic rs10837795 LOC100507205 AU 0.527556 0.7907 Uncertain 11_43357037_A->G 11 43357037 43357037 A G snp 448.77 1/1 33 16 0 16 1.0 intronic rs5743253 API5 AU NM_006595 exon12 c.23227+133A>G 0.313299 0.4692 Uncertain 11_43413159_TGCG->- 11 43413159 43413162 TGCG - indel 1685.73 1/1 77 41 1 40 0.98 intronic rs57793807 TTC17 AU NM_018259 exon4 c.32622+33_32622+36delTGCG 0.594249 0.6319 0.5016 0.5011 Uncertain 11_43419452_GTGT->- 11 43419452 43419455 GTGT - indel 638.73 ./1 99 16 0 16 1.0 intronic TTC17 AU NM_018259 exon8 c.39019-71_39019-68delGTGT Uncertain 11_43419452_GT->- 11 43419452 43419453 GT - indel 638.73 ./1 99 16 0 16 1.0 intronic TTC17 AU NM_018259 exon8 c.39019-71_39019-70delGT Uncertain 11_43426946_T->C 11 43426946 43426946 T C snp 227.84 1/1 18 7 0 7 1.0 intronic rs7951848 TTC17 AU NM_018259 exon12 c.46559-117T>C 0.313299 0.4692 Uncertain 11_43472895_G->C 11 43472895 43472895 G C snp 4596.77 1/1 99 159 0 159 1.0 intronic rs6485426 TTC17 AU NM_018259 exon21 c.92311+80G>C 0.913139 0.9306 Uncertain 11_43702581_G->A 11 43702581 43702581 G A snp 1305.77 1/1 96 47 1 46 0.98 intronic rs4573669 HSD17B12 AU NM_016142 exon1 c.160+44G>A 0.746406 0.9643 0.700544 0.7568 0.9637 Uncertain 11_43702615_G->C 11 43702615 43702615 G C snp 761.77 1/1 57 25 0 25 1.0 intronic rs4573668 HSD17B12 AU NM_016142 exon1 c.160+78G>C 0.994409 1 Uncertain 11_43772549_A->G 11 43772549 43772549 A G snp 255.77 0/1 99 16 6 10 0.63 intronic rs12801203 HSD17B12 AU NM_016142 exon2 c.70130+42A>G 0.36222 0.6736 0.315241 0.4141 0.7210 Uncertain 11_43775734_A->G 11 43775734 43775734 A G snp 113.77 0/1 99 8 4 4 0.5 intronic rs4643069 HSD17B12 AU NM_016142 exon3 c.73294+63A>G 0.643171 0.7381 0.661410 Uncertain 11_43776481_C->T 11 43776481 43776481 C T snp 2400.77 0/1 99 203 96 107 0.53 intronic rs7115919 HSD17B12 AU NM_016142 exon3 c.73294+810C>T 0.64357 0.7381 0.668469 0.6707 0.7504 Uncertain 11_43852491_T->C 11 43852491 43852491 T C snp 1095.77 0/1 99 81 39 42 0.52 intronic rs6485471 HSD17B12 AU NM_016142 exon7 c.150148-34T>C 0.389577 0.6806 0.341765 0.3964 0.7069 Uncertain 11_43861748_G->A 11 43861748 43861748 G A snp 701.77 0/1 99 45 17 28 0.62 intronic rs10734518 HSD17B12 AU NM_016142 exon9 c.159237+134G>A 0.608427 0.7004 Uncertain 11_43876435_A->G 11 43876435 43876435 A G snp 1527.77 0/1 99 227 148 79 0.35 intronic rs3736505 HSD17B12 AU NM_016142 exon10 c.174037+21A>G 0.362021 0.256 0.348224 0.3339 0.2450 Uncertain 11_43876698_C->T 11 43876698 43876698 C T snp 1095.77 0/1 99 101 51 50 0.5 exonic rs11555762 HSD17B12 AU nonsynonymous SNV NM_016142 exon11 c.C839T p.S280L 0.359026 0.256 0.345687 0.3328 0.2425 0.72 T 0.0 P -0.966 T 0.002 T 0.001 T Pathogenic 11_43905440_C->G 11 43905440 43905440 C G snp 432.77 0/1 99 44 27 17 0.39 intronic rs2271818 ALKBH3 AU NM_139178 exon4 c.1330-92C>G 0.302915 0.6002 Uncertain 11_43905484_T->G 11 43905484 43905484 T G snp 1517.77 0/1 99 100 41 59 0.59 intronic rs2271817 ALKBH3 AU NM_139178 exon4 c.1330-48T>G 0.261382 0.2381 0.200292 0.2822 0.2462 Uncertain 11_43908104_T->G 11 43908104 43908104 T G snp 2220.77 0/1 99 175 81 94 0.54 intronic rs3740983 ALKBH3 AU NM_139178 exon5 c.3953-51T>G 0.275559 0.2391 0.219515 Uncertain 11_43911131_G->A 11 43911131 43911131 G A snp 197.77 0/1 95 9 3 6 0.67 intronic rs10838197 ALKBH3 AU NM_139178 exon6 c.7072-143G>A 0.260783 0.2391 Uncertain 11_43911365_T->C 11 43911365 43911365 T C snp 3805.77 1/1 99 139 0 139 1.0 exonic rs2434478 ALKBH3 AU synonymous SNV NM_139178 exon6 c.T357C p.T119T 0.997604 1 0.996771 0.9990 1 Uncertain 11_43913386_T->C 11 43913386 43913386 T C snp 136.03 1/1 12 4 0 4 1.0 intronic rs7116503 ALKBH3 AU NM_139178 exon7 c.9388-204T>C 0.842652 0.9752 Uncertain 11_43923463_A->T 11 43923463 43923463 A T snp 48.74 1/1 6 3 0 3 1.0 intronic rs2434485 ALKBH3 AU NM_139178 exon8 c.19073+188A>T 0.842053 0.9752 Uncertain 11_43940566_T->C 11 43940566 43940566 T C snp 866.77 1/1 63 32 0 32 1.0 ncRNA_intronic rs7926534 ALKBH3-AS1 AU 0.843051 0.9752 0.821159 0.8887 0.9822 Uncertain 11_43940644_G->T 11 43940644 43940644 G T snp 2092.77 1/1 99 75 0 75 1.0 exonic rs1048928 ALKBH3 AU synonymous SNV NM_139178 exon9 c.G726T p.G242G 0.616214 0.8373 0.535445 0.6514 0.8452 1.000 P -1.049 T Likely benign 11_43946967_A->G 11 43946967 43946967 A G snp 2716.77 1/1 99 95 0 95 1.0 intergenic rs1973717 ALKBH3-AS1 AU 0.678315 0.8829 0.7322 0.9030 0 D 0.0 P -1.031 T Uncertain 11_43947990_T->C 11 43947990 43947990 T C snp 2332.77 1/1 99 90 0 90 1.0 intergenic rs12797684 ALKBH3-AS1 AU 0.683107 0.8819 0.7421 0.9044 0 D 0.0 P -1.104 T Uncertain 11_43954812_T->C 11 43954812 43954812 T C snp 1251.77 1/1 90 42 0 42 1.0 intergenic rs2434476 ALKBH3-AS1 AU 0.981629 1 Uncertain 11_43963647_G->T 11 43963647 43963647 G T snp 180.9 1/1 15 5 0 5 1.0 upstream rs6485482 C11orf96 AU 0.546326 0.7044 Uncertain 11_43964842_G->C 11 43964842 43964842 G C snp 2885.77 1/1 99 101 0 101 1.0 UTR3 rs7077 C11orf96 AU 0.579872 0.7163 0.5742 0.7157 0 D 0.000 P -0.955 T Uncertain 11_44080210_T->C 11 44080210 44080210 T C snp 2189.77 1/1 99 76 0 76 1.0 exonic rs2074051 ACCSL AU nonsynonymous SNV NM_001031854 exon13 c.T1585C p.C529R 0.794329 0.8433 0.794437 0.7549 0.8551 1 T 0.859 P -0.973 T 0.0 T 0.0 T Pathogenic 11_44089161_G->A 11 44089161 44089161 G A snp 3204.83 1/1 99 121 0 121 1.0 intronic rs178514 ACCS AU 0.831869 0.8671 0.847224 0.7830 0.8641 Uncertain 11_44089352_G->A 11 44089352 44089352 G A snp 1182.77 0/1 99 106 55 51 0.48 exonic rs33952257 ACCS AU nonsynonymous SNV NM_032592 exon2 c.G175A p.D59N 0.267372 0.3085 0.241735 0.1831 0.3109 0.0 P -0.978 T 0.023 T 0.012 T Pathogenic 11_44092880_C->T 11 44092880 44092880 C T snp 2376.77 0/1 99 196 93 103 0.53 intronic rs2074039 ACCS AU NM_032592 exon3 c.3688+15C>T 0.0934505 0.1032 0.112025 0.1172 0.125 Uncertain 11_44096238_G->A 11 44096238 44096238 G A snp 1841.77 1/1 99 71 0 71 1.0 intronic rs178521 ACCS AU NM_032592 exon5 c.7054+7G>A 0.771166 0.9077 0.692065 0.7391 0.9198 Uncertain 11_44097226_A->G 11 44097226 44097226 A G snp 784.77 0/1 99 51 21 30 0.59 intronic rs178523 ACCS AU NM_032592 exon6 c.7965+84A>G 0.309904 0.4177 Uncertain 11_44098985_G->A 11 44098985 44098985 G A snp 1340.77 0/1 99 102 48 54 0.53 intronic rs2074043 ACCS AU NM_032592 exon7 c.9749+59G>A 0.452875 0.4653 Uncertain 11_44104701_-->CT 11 44104701 44104701 - CT indel 5473.73 1/1 99 116 0 116 1.0 intronic rs57392083 ACCS AU NM_032592 exon13 c.15541-17insCT 0.771166 0.9077 0.692252 0.7404 0.9228 Uncertain 11_44104885_T->G 11 44104885 44104885 T G snp 1943.77 0/1 99 164 83 81 0.49 intronic rs3107274 ACCS AU NM_032592 exon13 c.15684+24T>G 0.264577 0.3562 0.255959 0.2742 0.3543 Uncertain 11_44104981_C->T 11 44104981 44104981 C T snp 2674.77 0/1 99 215 105 110 0.51 exonic rs3107275 ACCS AU nonsynonymous SNV NM_032592 exon14 c.C1262T p.P421L 0.403754 0.4692 0.415116 0.3963 0.4662 0.27 T 0.0 P -0.923 T 0.018 T 0.026 T ID=CM067708;DIS=Lung cancer, susceptibility to, association with;TAG=DP;PUB=16741161 DP Pathogenic 11_44117898_T->G 11 44117898 44117898 T G snp 1297.77 1/1 93 44 0 44 1.0 intronic rs11037860 EXT2 AR,AD NM_000401 exon1 c.69+27T>G 0.741813 0.9107 0.7174 0.9381 Uncertain 11_44129290_C->A 11 44129290 44129290 C A snp 1751.77 0/1 99 151 83 68 0.45 exonic rs4755228 EXT2 AR,AD synonymous SNV NM_207122 exon2 c.C28A p.R10R 0.0780751 0.2788 0.005843 0.0334 0.2814 Uncertain 11_44146257_A->G 11 44146257 44146257 A G snp 2521.77 1/1 99 89 0 89 1.0 intronic rs10769018 EXT2 AR,AD NM_000401 exon5 c.28536-81A>G 0.759585 0.8641 Uncertain 11_44151457_T->C 11 44151457 44151457 T C snp 4008.77 1/1 99 131 0 131 1.0 intronic rs7125352 EXT2 AR,AD NM_000401 exon7 c.33792-137T>C 0.905351 0.9821 Uncertain 11_44151480_G->T 11 44151480 44151480 G T snp 2049.77 0/1 99 179 86 93 0.52 intronic rs11037881 EXT2 AR,AD NM_000401 exon7 c.33792-114G>T 0.291534 0.4196 Uncertain 11_44151577_T->A 11 44151577 44151577 T A snp 2986.77 0/1 99 249 118 131 0.53 intronic rs11037882 EXT2 AR,AD NM_000401 exon7 c.33792-17T>A 0.320887 0.4454 0.233697 0.3274 0.4613 Uncertain 11_44255614_T->C 11 44255614 44255614 T C snp 415.77 0/1 99 33 13 20 0.61 intronic rs11037909 EXT2 AR,AD NM_000401 exon12 c.137862-50T>C 0.311901 0.4296 0.225392 0.3065 0.4380 ID=CR072303;DIS=Diabetes, type 2, reduced risk, association with;TAG=DP;PUB=17293876 DP Uncertain 11_44257802_T->C 11 44257802 44257802 T C snp 1700.77 0/1 99 140 67 73 0.52 intronic rs3740878 EXT2 AR,AD NM_000401 exon13 c.140040-40T>C 0.300519 0.4335 0.208705 0.3028 0.4400 ID=CR072302;DIS=Diabetes, type 2, reduced risk, association with;TAG=DP;PUB=17293876 DP Uncertain 11_44286566_G->A 11 44286566 44286566 G A snp 1332.77 0/1 99 144 84 60 0.42 exonic rs3802805 ALX4 AR,AD synonymous SNV NM_021926 exon4 c.C1074T p.H358H 0.358427 0.5258 0.274608 0.3618 0.5542 Uncertain 11_44289289_A->G 11 44289289 44289289 A G snp 2996.77 1/1 99 85 0 85 1.0 intronic rs10742699 ALX4 AR,AD NM_021926 exon2 c.2769+117A>G 0.790136 0.874 Uncertain 11_44289312_C->G 11 44289312 44289312 C G snp 495.77 0/1 99 43 26 17 0.4 intronic rs10769024 ALX4 AR,AD NM_021926 exon2 c.2769+140C>G 0.603634 0.6121 Uncertain 11_44296828_C->T 11 44296828 44296828 C T snp 879.77 0/1 99 56 21 35 0.63 intronic rs11037927 ALX4 AR,AD NM_021926 exon3 c.10494-69C>T 0.394369 0.3621 Uncertain 11_44297054_T->C 11 44297054 44297054 T C snp 7746.77 1/1 99 250 0 250 1.0 exonic rs10769028 ALX4 AR,AD synonymous SNV NM_021926 exon2 c.A621G p.S207S 0.991613 0.999 0.991233 0.9975 0.9999 Uncertain 11_44297253_A->G 11 44297253 44297253 A G snp 1840.77 1/1 99 56 0 56 1.0 intronic rs11037929 ALX4 AR,AD NM_021926 exon3 c.10805+45A>G 0.935903 1 0.929022 0.9577 0.9999 Uncertain 11_44297343_C->A 11 44297343 44297343 C A snp 180.9 1/1 15 5 0 5 1.0 intronic rs11037930 ALX4 AR,AD NM_021926 exon3 c.10805+135C>A 0.990615 1 Uncertain 11_44608866_T->C 11 44608866 44608866 T C snp 861.77 1/1 63 24 0 24 1.0 intronic rs7930303 CD82 AD 0.971046 0.9712 Uncertain 11_44609129_T->A 11 44609129 44609129 T A snp 1742.77 1/1 99 63 0 63 1.0 intronic rs7118753 CD82 AD 0.44349 0.744 0.3658 0.7465 Uncertain 11_44609198_G->A 11 44609198 44609198 G A snp 281.78 1/1 24 9 0 9 1.0 intronic rs7102843 CD82 AD 0.739217 0.9067 Uncertain 11_44626461_C->G 11 44626461 44626461 C G snp 495.77 0/1 99 32 14 18 0.56 intronic rs4755851 CD82 AD NM_002231 exon5 c.10395-146C>G 0.265375 0.5208 Uncertain 11_44627168_G->A 11 44627168 44627168 G A snp 127.77 0/1 30 7 2 5 0.71 intronic rs11604994 CD82 AD NM_002231 exon6 c.10767+189G>A 0.193091 0.3155 Uncertain 11_44636684_G->T 11 44636684 44636684 G T snp 335.77 0/1 99 31 19 12 0.39 intronic rs12788360 CD82 AD NM_002231 exon7 c.20609-137G>T 0.218251 0.2817 Uncertain 11_44636833_G->A 11 44636833 44636833 G A snp 1852.77 0/1 99 160 81 79 0.49 exonic rs2303865 CD82 AD synonymous SNV NM_001024844 exon6 c.G273A p.E91E 0.245807 0.4653 0.101046 0.2113 0.4585 Uncertain 11_44636839_C->T 11 44636839 44636839 C T snp 1785.77 0/1 99 160 79 81 0.51 exonic rs883752 CD82 AD synonymous SNV NM_001024844 exon6 c.C279T p.G93G 0.228235 0.2748 0.275838 0.2879 0.2959 Uncertain 11_44640268_A->G 11 44640268 44640268 A G snp 1612.77 0/1 99 122 55 67 0.55 exonic rs1139971 CD82 AD nonsynonymous SNV NM_001024844 exon8 c.A646G p.I216V 0.587061 0.502 0.585435 0.6427 0.4885 0.49 T 1.0 P -0.920 T 0.04 T 0.057 T Pathogenic 11_44640640_C->G 11 44640640 44640640 C G snp 2806.77 0/1 99 250 130 120 0.48 exonic rs7107335 CD82 AD synonymous SNV NM_001024844 exon9 c.C693G p.V231V 0.169728 0.3899 0.157798 0.1731 0.3896 Uncertain 11_44640792_T->C 11 44640792 44640792 T C snp 978.77 1/1 72 25 0 25 1.0 UTR3 rs4755266 CD82 AD 0.975839 1 Uncertain 11_44925038_A->G 11 44925038 44925038 A G snp 1204.77 0/1 99 109 56 53 0.49 intronic rs11038198 TSPAN18 AU 0.242412 0.1627 0.2815 0.2043 Uncertain 11_44925230_G->A 11 44925230 44925230 G A snp 3278.77 0/1 99 234 101 133 0.57 intronic rs78005571 TSPAN18 AU 0.0471246 0.1994 0.0125 0.1931 Uncertain 11_44925359_-->T 11 44925359 44925359 - T indel 2677.73 0/1 99 147 70 77 0.52 intronic rs11456363 TSPAN18 AU 0.409545 0.2093 0.4930 0.1961 Uncertain 11_44931607_T->C 11 44931607 44931607 T C snp 200.77 0/1 54 8 2 6 0.75 intronic rs835998 TSPAN18 AU NM_130783 exon4 c.3483+157T>C 0.85024 0.8323 Uncertain 11_44948052_G->T 11 44948052 44948052 G T snp 98.77 0/1 99 17 12 5 0.29 intronic rs835988 TSPAN18 AU NM_130783 exon8 c.20257-172G>T 0.396366 0.1855 Uncertain 11_44950784_G->A 11 44950784 44950784 G A snp 526.77 0/1 99 49 24 25 0.51 UTR3 rs835990 TSPAN18 AU 0.875 0.7837 0.878668 Uncertain 11_44952285_C->T 11 44952285 44952285 C T snp 651.77 0/1 99 55 32 23 0.42 UTR3 rs10838390 TSPAN18 AU 0.471645 0.5972 Uncertain 11_44959213_C->T 11 44959213 44959213 C T snp 268.77 0/1 99 20 9 11 0.55 intronic rs2279363 TP53I11 AU NM_001258324 exon5 c.2730+49C>T 0.488019 0.6607 0.378191 0.4725 0.6786 Uncertain 11_44959924_G->A 11 44959924 44959924 G A snp 1093.77 0/1 99 96 47 49 0.51 intronic rs2306666 TP53I11 AU NM_001258324 exon6 c.3483+7G>A 0.555312 0.6825 0.450392 0.5918 0.7241 Uncertain 11_44968756_G->A 11 44968756 44968756 G A snp 291.77 0/1 51 11 2 9 0.82 intronic rs4755920 TP53I11 AU NM_001258320 exon10 c.15089-2767G>A 0.448682 0.5 Uncertain 11_45672261_A->G 11 45672261 45672261 A G snp 1990.77 0/1 99 155 74 81 0.52 exonic rs3802762 CHST1 AU synonymous SNV NM_003654 exon4 c.T213C p.S71S 0.687101 0.6716 0.716933 0.8009 0.6804 Uncertain 11_45672594_A->G 11 45672594 45672594 A G snp 130.03 1/1 12 4 0 4 1.0 intronic rs4391786 CHST1 AU NM_003654 exon1 c.1278+79A>G 0.966254 1 Uncertain 11_45793023_T->G 11 45793023 45793023 T G snp 364.77 0/1 99 29 14 15 0.52 ncRNA_exonic rs2666890 DKFZp779M0652 AU 0.207468 0.4613 Uncertain 11_45793218_G->C 11 45793218 45793218 G C snp 1842.77 0/1 99 186 103 83 0.45 ncRNA_exonic rs2666891 DKFZp779M0652 AU 0.621605 0.6518 0.4059 0.5859 0 D 0.0 P -1.008 T 0.0 T 0.0 T Uncertain 11_45834290_G->A 11 45834290 45834290 G A snp 285.77 0/1 99 20 10 10 0.5 UTR3 rs142012266 SLC35C1 AR 0.0159744 0.0496 Uncertain 11_45880208_G->A 11 45880208 45880208 G A snp 106.77 0/1 99 9 5 4 0.44 intronic rs79411153 CRY2 AU NM_021117 exon3 c.11303-73G>A 0.0175719 0.0853 Uncertain 11_45883914_T->C 11 45883914 45883914 T C snp 432.77 1/1 33 12 0 12 1.0 intronic rs4755343 CRY2 AU NM_021117 exon5 c.14721+215T>C 1 1 Uncertain 11_45919856_A->G 11 45919856 45919856 A G snp 171.77 0/1 99 16 9 7 0.44 intronic rs17847254 MAPK8IP1 AD NM_005456 exon2 c.12370+115A>G 0.00399361 0.0198 Uncertain 11_45923697_A->G 11 45923697 45923697 A G snp 6746.77 1/1 99 237 0 237 1.0 intronic rs2280331 MAPK8IP1 AD NM_005456 exon4 c.16241+85A>G 0.207668 0.5417 Uncertain 11_45937267_C->T 11 45937267 45937267 C T snp 6964.77 1/1 99 250 1 249 1.0 exonic rs10742772 PEX16 AU nonsynonymous SNV NM_004813 exon4 c.G346A p.V116I 1 1 1 1 1 T 0.001 P -0.960 T 0.001 T 0.004 T Pathogenic 11_45945837_C->T 11 45945837 45945837 C T snp 2695.77 1/1 99 87 0 87 1.0 intronic rs10838531 GYLTL1B AU NM_001300721 exon4 c.1395+9C>T 0.190296 0.5258 0.058136 0.1041 0.5648 Uncertain 11_45949201_C->T 11 45949201 45949201 C T snp 4413.77 1/1 99 150 0 150 1.0 intronic rs884668 GYLTL1B AU NM_001300721 exon11 c.4711+57C>T 0.632188 0.6052 Uncertain 11_45959669_C->T 11 45959669 45959669 C T snp 1384.77 1/1 99 39 0 39 1.0 intronic rs10742773 PHF21A AU NM_016621 exon4 c.4189-38C>T 0.868211 0.998 0.847408 0.9027 0.9998 Uncertain 11_45975130_C->T 11 45975130 45975130 C T snp 1138.77 1/1 84 40 0 40 1.0 exonic rs3736508 PHF21A AU nonsynonymous SNV NM_001101802 exon10 c.G1040A p.R347H 0.16853 0.5585 0.029380 0.1203 0.6068 0.12 T 0.952 P -0.938 T 0.029 T 0.006 T Pathogenic 11_46105688_G->A 11 46105688 46105688 G A snp 2604.77 1/1 99 92 0 92 1.0 intronic rs2932515 PHF21A AU NM_016621 exon16 c.150198-28G>A 0.908147 0.998 0.893692 0.9207 0.9998 Uncertain 11_46342082_G->- 11 46342082 46342082 G - indel 2126.73 1/1 99 63 0 63 1.0 splicing rs67946579 CREB3L1 AU NM_052854 exon11 c.42417+3delG 1 1 0.999916 0.9999 0.9996 Pathogenic 11_46342259_-->G 11 46342259 46342259 - G indel 6792.73 1/1 99 172 0 172 1.0 splicing rs386373761 CREB3L1 AU NM_052854 exon12 c.42597insG 0.9998 0.999 1.0000 1 Pathogenic 11_46407331_G->A 11 46407331 46407331 G A snp 1836.77 0/1 99 160 86 74 0.46 exonic rs201791476 CHRM4 AU synonymous SNV NM_000741 exon1 c.C777T p.P259P 0.000085 0.0001 0 Uncertain 11_46473322_C->A 11 46473322 46473322 C A snp 425.77 0/1 99 48 29 19 0.4 intronic AMBRA1 AU NM_001267783 exon7 c.46149+8174C>A Uncertain 11_46564032_C->T 11 46564032 46564032 C T snp 2404.77 0/1 99 230 134 96 0.42 exonic rs144724685 AMBRA1 AU nonsynonymous SNV NM_001300731 exon7 c.G1535A p.R512Q 0.00199681 0.0089 0.000308 0.0015 0.0045 0 D 1.000 D -0.115 T 0.999 D 0.99 D Pathogenic 11_46686260_G->A 11 46686260 46686260 G A snp 2403.77 1/1 99 84 0 84 1.0 intronic rs10838610 ATG13 AU NM_001205119 exon12 c.20557-138G>A 0.570487 0.8681 Uncertain 11_46694314_TC->- 11 46694314 46694315 TC - indel 4156.73 1/1 99 79 0 79 1.0 UTR3 rs67065551 ATG13 AU 0.999201 1 0.997829 0.9998 1 Uncertain 11_46701728_G->T 11 46701728 46701728 G T snp 5383.77 1/1 99 204 2 202 0.99 intronic rs10838612 ARHGAP1 AU NM_004308 exon4 c.1168-26G>T 0.201478 0.5972 0.075000 0.1713 0.6043 Uncertain 11_46702160_C->T 11 46702160 46702160 C T snp 3737.77 1/1 99 135 0 135 1.0 intronic rs4752927 ARHGAP1 AU NM_004308 exon6 c.1603-29C>T 0.196286 0.5724 0.075177 0.1717 0.5763 Uncertain 11_46702920_T->C 11 46702920 46702920 T C snp 3543.77 1/1 99 129 0 129 1.0 exonic rs4268467 ARHGAP1 AU synonymous SNV NM_004308 exon6 c.A459G p.K153K 0.999201 1 0.998615 0.9997 1 0 D 1.0 P -1.059 T Likely benign 11_46722731_T->C 11 46722731 46722731 T C snp 2607.77 1/1 99 102 0 102 1.0 intronic rs4752928 ZNF408 AR,AD NM_001184751 exon1 c.28+40T>C 0.999201 1 0.9997 1 Uncertain 11_46724717_AGTGGTGACAGA->- 11 46724717 46724728 AGTGGTGACAGA - indel 3807.73 0/1 99 78 42 36 0.46 exonic rs148055528 ZNF408 AR,AD nonframeshift deletion NM_024741 exon4 c.576_587del p.192_196del 0.218051 0.5942 0.114377 0.1843 0.5562 ID=COSM1163672;OCCURENCE=1(endometrium),1(large_intestine),1(pancreas) Uncertain 11_46741495_C->T 11 46741495 46741495 C T snp 43.77 0/1 72 7 4 3 0.43 intronic rs2070850 F2 AR,AD,AO NM_000506 exon2 c.627+83C>T 0.217452 0.5615 Uncertain 11_46744528_T->C 11 46744528 46744528 T C snp 54.74 1/1 6 2 0 2 1.0 intronic rs2070851 F2 AR,AD,AO NM_000506 exon5 c.3944-201T>C 0.265775 0.6012 Uncertain 11_46744925_G->C 11 46744925 46744925 G C snp 2986.77 0/1 99 250 125 125 0.5 intronic rs2070852 F2 AR,AD,AO NM_000506 exon6 c.4146-6G>C 0.455272 0.3026 0.538385 0.6026 0.2941 Uncertain 11_46745003_C->T 11 46745003 46745003 C T snp 2892.77 0/1 99 242 125 117 0.48 exonic rs5896 F2 AR,AD,AO nonsynonymous SNV NM_000506 exon6 c.C494T p.T165M 0.219249 0.6002 0.096000 0.1976 0.6074 0 D 0.0 P -0.941 T 0.253 T 0.08 T ID=CM043760;DIS=Warfarin sensitivity, association with;TAG=DP;PUB=14656880 DP Pathogenic 11_46747979_T->C 11 46747979 46747979 T C snp 396.77 0/1 99 31 18 13 0.42 intronic rs1799867 F2 AR,AD,AO NM_000506 exon8 c.7262-68T>C 0.219249 0.5992 Uncertain 11_46760466_G->T 11 46760466 46760466 G T snp 205.84 1/1 18 6 0 6 1.0 intronic rs3136515 F2 AR,AD,AO NM_000506 exon13 c.19812-131G>T 0.975839 1 Uncertain 11_46760756_G->A 11 46760756 46760756 G A snp 905.77 0/1 99 83 44 39 0.47 intronic rs3136516 F2 AR,AD,AO NM_000506 exon14 c.20029-58G>A 0.282947 0.1796 CLINSIG=unknown;CLNDBN=Thrombophilia;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000133511.2;CLNDSDB=GeneReviews:MedGen:OMIM:SNOMED_CT;CLNDSDBID=NBK1148:C0398623:188050:234467004 Uncertain 11_46776697_A->G 11 46776697 46776697 A G snp 182.9 1/1 15 5 0 5 1.0 intronic rs4237546 CKAP5 AU NM_001008938 exon9 c.11045+80A>G 0.997404 1 Uncertain 11_46802094_C->A 11 46802094 46802094 C A snp 512.77 1/1 39 16 0 16 1.0 intronic rs6485691 CKAP5 AU NM_014756 exon25 c.36463+59C>A 0.976238 1 0.974595 Uncertain 11_46822686_C->A 11 46822686 46822686 C A snp 1046.77 0/1 99 79 37 42 0.53 intronic rs10734549 CKAP5 AU NM_014756 exon35 c.57177-63C>A 0.579073 0.3879 Uncertain 11_46829793_T->A 11 46829793 46829793 T A snp 91.77 0/1 99 18 13 5 0.28 intronic rs565215215 CKAP5 AU NM_014756 exon36 c.64122+99T>A 0.000599042 Uncertain 11_46837632_CA->- 11 46837632 46837633 CA - indel 312.73 1/1 33 11 0 11 1.0 intronic rs138213322 CKAP5 AU NM_014756 exon40 c.72176-116_72176-115delCA Uncertain 11_46837634_T->A 11 46837634 46837634 T A snp 432.77 1/1 33 12 0 12 1.0 intronic rs77827651 CKAP5 AU NM_014756 exon40 c.72176-114T>A Uncertain 11_46840120_G->- 11 46840120 46840120 G - indel 268.73 0/1 99 43 20 23 0.53 intronic rs398015963 CKAP5 AU NM_014756 exon41 c.74482+66delG 0.440495 0.2867 Uncertain 11_46889713_T->C 11 46889713 46889713 T C snp 310.77 0/1 99 18 7 11 0.61 ncRNA_intronic rs2306026 LRP4-AS1 AU 0.579673 0.3889 0.660077 0.6862 0.3836 Uncertain 11_46890165_C->T 11 46890165 46890165 C T snp 1828.77 0/1 99 152 79 73 0.48 exonic rs3816614 LRP4 AR,AD nonsynonymous SNV NM_002334 exon33 c.G4937A p.R1646Q 0.579673 0.3889 0.660077 0.6847 0.3804 0.27 T 0.638 P -0.902 T 0.005 T 0.007 T Pathogenic 11_46890197_G->A 11 46890197 46890197 G A snp 2437.77 0/1 99 212 111 101 0.48 exonic rs2290883 LRP4 AR,AD synonymous SNV NM_002334 exon33 c.C4905T p.F1635F 0.219249 0.6101 0.092308 0.1948 0.6214 Uncertain 11_46890388_C->G 11 46890388 46890388 C G snp 1342.77 0/1 99 112 60 52 0.46 ncRNA_intronic rs2290884 LRP4-AS1 AU 0.532348 0.3889 Uncertain 11_46893108_T->C 11 46893108 46893108 T C snp 1729.77 0/1 99 153 73 80 0.52 exonic rs2306029 LRP4 AR,AD nonsynonymous SNV NM_002334 exon31 c.A4660G p.S1554G 0.367612 0.2569 0.425308 0.4942 0.2449 0.04 T 1.000 P -1.117 T 0.233 T 0.3 T ID=CM110471;DIS=Richter syndrome, increased risk, association with;TAG=DP;PUB=21121903 DP Pathogenic 11_46897253_G->C 11 46897253 46897253 G C snp 2625.77 0/1 99 223 115 108 0.48 intronic rs2306032 LRP4 AR,AD NM_002334 exon12 c.16699+21G>C 0.445088 0.2917 0.514769 0.5865 0.2825 Uncertain 11_46897446_G->A 11 46897446 46897446 G A snp 2304.77 0/1 99 231 131 100 0.43 exonic rs2306033 LRP4 AR,AD nonsynonymous SNV NM_002334 exon26 c.C3608T p.A1203V 0.219249 0.6101 0.092231 0.1945 0.6210 0.44 T 0.0 P -0.976 T 0.0 T 0.001 T Pathogenic 11_46897995_G->T 11 46897995 46897995 G T snp 2022.77 0/1 99 169 89 80 0.47 intronic rs964551 LRP4 AR,AD NM_002334 exon14 c.17483-21G>T 0.580471 0.3889 0.660231 0.6848 0.3794 Uncertain 11_46898533_G->C 11 46898533 46898533 G C snp 54.74 1/1 6 2 0 2 1.0 intronic rs3816615 LRP4 AR,AD NM_002334 exon15 c.17848+152G>C 0.0603035 0.2887 Uncertain 11_46898771_T->C 11 46898771 46898771 T C snp 836.77 0/1 99 84 48 36 0.43 exonic rs6485702 LRP4 AR,AD nonsynonymous SNV NM_002334 exon23 c.A3256G p.I1086V 0.445887 0.2927 0.516154 0.5849 0.2815 0.46 T 0.998 P -0.910 T 0.0 T 0.002 T ID=CM093419;DIS=Hip bone mineral density, association with;TAG=DP;PUB=19079262 DP Pathogenic 11_46900659_G->T 11 46900659 46900659 G T snp 2106.77 0/1 99 169 87 82 0.49 intronic rs2306028 LRP4 AR,AD NM_002334 exon18 c.20143-17G>T 0.21885 0.6121 0.092231 0.1947 0.6216 Uncertain 11_46907827_C->T 11 46907827 46907827 C T snp 1274.77 0/1 99 102 48 54 0.53 intronic rs2306027 LRP4 AR,AD NM_002334 exon22 c.27342-48C>T 0.521765 0.378 0.606648 0.6941 0.4186 Uncertain 11_46911457_T->C 11 46911457 46911457 T C snp 939.77 0/1 99 66 30 36 0.55 intronic rs2306035 LRP4 AR,AD NM_002334 exon24 c.30961-37T>C 0.515575 0.381 0.600923 0.6633 0.3803 Uncertain 11_46911704_C->T 11 46911704 46911704 C T snp 858.77 0/1 99 56 26 30 0.54 intronic rs2306036 LRP4 AR,AD NM_002334 exon24 c.31138+33C>T 0.669728 0.379 0.791000 0.7613 0.3751 Uncertain 11_46911781_G->C 11 46911781 46911781 G C snp 713.77 0/1 99 70 38 32 0.46 intronic rs2306037 LRP4 AR,AD NM_002334 exon25 c.31294-46G>C 0.2498 0.6181 0.128538 0.2105 0.6211 Uncertain 11_46914583_T->C 11 46914583 46914583 T C snp 1707.77 1/1 99 65 0 65 1.0 exonic rs10838631 LRP4 AR,AD synonymous SNV NM_002334 exon13 c.A1638G p.K546K 0.980831 1 0.979231 0.9888 0.9999 Uncertain 11_46914598_A->G 11 46914598 46914598 A G snp 2003.77 1/1 99 73 0 73 1.0 exonic rs10769215 LRP4 AR,AD synonymous SNV NM_002334 exon13 c.T1623C p.D541D 0.994609 1 0.995769 0.9989 1 Uncertain 11_46917042_G->C 11 46917042 46917042 G C snp 40.77 0/1 69 6 3 3 0.5 intronic rs113362246 LRP4 AR,AD NM_002334 exon28 c.36309+200G>C 0.227636 0.623 Uncertain 11_46917983_G->A 11 46917983 46917983 G A snp 282.77 0/1 99 51 37 14 0.27 intronic rs898604 LRP4 AR,AD NM_002334 exon30 c.37353+97G>A 0.667931 0.376 Uncertain 11_46969616_T->C 11 46969616 46969616 T C snp 1865.77 1/1 99 63 0 63 1.0 intronic rs2867207 C11orf49 AU NM_024113 exon1 c.46+11214T>C 0.98762 1 0.9968 1 Uncertain 11_47159053_G->A 11 47159053 47159053 G A snp 1655.77 0/1 99 105 46 59 0.56 intronic rs4752965 C11orf49 AU NM_024113 exon4 c.200839-142G>A 0.240216 0.6667 Uncertain 11_47181040_G->A 11 47181040 47181040 G A snp 50.74 1/1 6 2 0 2 1.0 intronic rs1965952 C11orf49 AU NM_024113 exon7 c.221117+1567G>A 0.383786 0.7183 Uncertain 11_47185510_A->G 11 47185510 47185510 A G snp 77.77 0/1 99 8 4 4 0.5 intronic rs4752969 C11orf49 AU NM_001003678 exon9 c.227287-133A>G 0.31889 0.6696 Uncertain 11_47188314_T->C 11 47188314 47188314 T C snp 4814.77 1/1 99 171 1 170 0.99 exonic rs4752820 ARFGAP2 AU synonymous SNV NM_001242832 exon12 c.A1245G p.A415A 0.998802 1 0.998154 0.9996 1 1.0 P -1.017 T Likely benign 11_47188592_T->C 11 47188592 47188592 T C snp 655.77 0/1 99 28 6 22 0.79 intronic rs3740690 ARFGAP2 AU NM_032389 exon4 c.1405+155T>C 0.268371 0.2083 Uncertain 11_47189416_-->A 11 47189416 47189416 - A indel 565.73 0/1 99 59 24 35 0.59 intronic rs397752160 ARFGAP2 AU NM_032389 exon5 c.2427-43insA 0.2660 0.5215 Uncertain 11_47193367_T->G 11 47193367 47193367 T G snp 265.77 0/1 99 36 23 13 0.36 intronic rs57323109 ARFGAP2 AU NM_032389 exon8 c.6319+16T>G 0.379593 0.7183 0.298000 0.3635 0.7119 Uncertain 11_47196982_C->T 11 47196982 47196982 C T snp 977.77 0/1 99 77 39 38 0.49 intronic rs2279439 ARFGAP2 AU NM_032389 exon13 c.9832+118C>T 0.301917 0.6687 0.3169 0.6785 Uncertain 11_47201924_G->A 11 47201924 47201924 G A snp 3118.77 0/1 99 250 119 131 0.52 intronic rs11039119 PACSIN3 AU NM_001184975 exon6 c.2411+32G>A 0.385184 0.7183 0.306816 0.3688 0.7109 Uncertain 11_47203904_G->A 11 47203904 47203904 G A snp 639.77 0/1 99 46 18 28 0.61 intronic rs10838664 PACSIN3 AU NM_001184975 exon8 c.4472-49G>A 0.309704 0.6667 0.209372 0.2910 0.6594 Uncertain 11_47204175_A->T 11 47204175 47204175 A T snp 693.77 0/1 99 79 48 31 0.39 intronic rs2279438 PACSIN3 AU NM_001184975 exon9 c.4743-49A>T 0.666534 0.3294 0.762348 0.7044 0.3437 Uncertain 11_47238522_T->C 11 47238522 47238522 T C snp 4199.77 1/1 99 155 0 155 1.0 exonic rs326212 DDB2 AR synonymous SNV NM_000107 exon3 c.T378C p.T126T 0.994209 1 0.995307 0.9987 1 Uncertain 11_47238665_A->G 11 47238665 47238665 A G snp 523.77 1/1 39 15 0 15 1.0 intronic rs326211 DDB2 AR NM_000107 exon3 c.1913+65A>G 0.994209 1 Uncertain 11_47251199_G->A 11 47251199 47251199 G A snp 574.77 0/1 99 58 31 27 0.47 intronic rs830085 DDB2 AR NM_000107 exon4 c.17677-3165G>A 0.508986 0.2232 Uncertain 11_47256708_C->T 11 47256708 47256708 C T snp 938.77 0/1 99 65 33 32 0.49 intronic rs2306353 DDB2 AR NM_000107 exon7 c.20133-112C>T 0.360423 0.6726 Uncertain 11_47259264_G->C 11 47259264 47259264 G C snp 117.77 0/1 97 7 3 4 0.57 intronic rs3781620 DDB2 AR NM_000107 exon8 c.22700-123G>C 0.361821 0.6756 Uncertain 11_47259668_T->C 11 47259668 47259668 T C snp 2400.77 0/1 99 250 142 108 0.43 intronic rs326222 DDB2 AR NM_000107 exon9 c.23001-20T>C 0.467252 0.2232 0.600939 0.6088 0.2511 Uncertain 11_47260272_T->C 11 47260272 47260272 T C snp 450.77 0/1 99 40 22 18 0.45 intronic rs2013867 DDB2 AR NM_000107 exon10 c.23663-78T>C 0.50599 0.7768 Uncertain 11_47260319_A->G 11 47260319 47260319 A G snp 624.77 0/1 99 56 31 25 0.45 intronic rs901746 DDB2 AR NM_000107 exon10 c.23663-31A>G 0.51877 0.7768 0.382136 0.3956 0.7597 Uncertain 11_47264698_G->A 11 47264698 47264698 G A snp 3632.77 0/1 99 240 97 143 0.6 intronic rs201171124 ACP2 AR NM_001610 exon3 c.3009+23G>A 0.000399361 0.002 0.000077 0.0001 0.0008 Uncertain 11_47266808_T->G 11 47266808 47266808 T G snp 904.77 0/1 99 83 46 37 0.45 intronic rs2242261 ACP2 AR NM_001610 exon6 c.5189-47T>G 0.36222 0.6756 0.232728 0.2494 0.6696 0 D 0.000 P -0.973 T Uncertain 11_47269159_T->C 11 47269159 47269159 T C snp 2005.77 0/1 99 155 75 80 0.52 intronic rs4752973 ACP2 AR NM_001610 exon9 c.7525-32T>C 0.411142 0.7262 0.264425 0.2962 0.7103 Uncertain 11_47269936_C->T 11 47269936 47269936 C T snp 671.77 0/1 99 70 38 32 0.46 intronic rs7118396 ACP2 AR NM_001302489 exon11 c.8369-99C>T 0.353235 0.6756 Uncertain 11_47270255_C->T 11 47270255 47270255 C T snp 1525.77 0/1 99 122 55 67 0.55 exonic rs2167079 ACP2 AR nonsynonymous SNV NM_001302490 exon1 c.G86A p.R29Q 0.516973 0.7768 0.379874 0.4180 0.7590 1 T 1.000 P -0.956 T 0.003 T 0.001 T Pathogenic 11_47281780_T->C 11 47281780 47281780 T C snp 192.77 0/1 60 8 2 6 0.75 intronic rs2279239 NR1H3 AU NM_005693 exon4 c.1192-179T>C 0.483427 0.7748 Uncertain 11_47282024_C->T 11 47282024 47282024 C T snp 2744.77 0/1 99 226 109 117 0.52 exonic rs2279238 NR1H3 AU synonymous SNV NM_005693 exon4 c.C297T p.S99S 0.353834 0.6726 0.222573 0.2473 0.6694 ID=CM066153;DIS=Obesity, association with;TAG=DP;PUB=17108812 DP Uncertain 11_47298201_C->T 11 47298201 47298201 C T snp 756.77 0/1 99 92 58 34 0.37 intronic rs2291119 MADD AU NM_130471 exon5 c.2817-81C>T 0.239816 0.252 Uncertain 11_47298360_G->A 11 47298360 47298360 G A snp 1666.77 0/1 99 164 89 75 0.46 exonic rs326214 MADD AU synonymous SNV NM_003682 exon5 c.G1041A p.E347E 0.470048 0.2738 0.580089 0.5923 0.2976 Uncertain 11_47300429_T->C 11 47300429 47300429 T C snp 395.77 0/1 99 22 6 16 0.73 intronic rs4752977 MADD AU NM_130471 exon7 c.5084-120T>C 0.359425 0.624 Uncertain 11_47303275_T->C 11 47303275 47303275 T C snp 1350.77 0/1 99 102 43 59 0.58 exonic rs326217 MADD AU synonymous SNV NM_003682 exon8 c.T1440C p.N480N 0.296126 0.252 0.284736 0.3014 0.2742 Uncertain 11_47305669_T->G 11 47305669 47305669 T G snp 881.77 0/1 99 79 40 39 0.49 intronic rs3816725 MADD AU NM_130471 exon11 c.10263-59T>G 0.486222 0.7232 Uncertain 11_47306585_G->A 11 47306585 47306585 G A snp 1902.77 0/1 99 124 49 75 0.6 exonic rs1051006 MADD AU nonsynonymous SNV NM_003682 exon13 c.G2251A p.V751M 0.335064 0.622 0.225496 0.2493 0.6115 0.21 T 0.000 P -0.970 T 0.194 T 0.03 T Pathogenic 11_47312374_A->G 11 47312374 47312374 A G snp 289.77 0/1 99 35 22 13 0.37 intronic rs58023804 MADD AU NM_130471 exon20 c.16902+7A>G 0.230032 0.624 0.121096 0.2272 0.6155 Uncertain 11_47317626_AAAAG->- 11 47317626 47317630 AAAAG - indel 4325.73 0/1 99 120 50 70 0.58 intronic rs5791755 MADD AU NM_130471 exon23 c.22141+20_22141+24delAAAAG 0.230032 0.624 0.118051 0.2186 0.6084 Uncertain 11_47331116_T->C 11 47331116 47331116 T C snp 3331.77 1/1 99 118 0 118 1.0 exonic rs1017594 MADD AU synonymous SNV NM_003682 exon28 c.T4111C p.L1371L 0.99381 1 0.995076 0.9987 1 Uncertain 11_47346145_G->A 11 47346145 47346145 G A snp 2967.77 0/1 99 250 124 126 0.5 intronic rs2290148 MADD AU NM_130471 exon31 c.50663+17G>A 0.35643 0.622 0.252885 0.2911 0.6309 0.0 P -0.918 T 0.0 T 0.0 T Uncertain 11_47350287_G->A 11 47350287 47350287 G A snp 1806.77 0/1 99 118 49 69 0.58 intronic rs2305280 MADD AU NM_130471 exon33 c.54790+32G>A 0.424521 0.6657 0.313587 0.3322 0.6471 Uncertain 11_47350553_G->C 11 47350553 47350553 G C snp 1592.77 0/1 99 143 71 72 0.5 intronic rs10838693 MADD AU NM_130471 exon34 c.55131-43G>C 0.513578 0.7242 0.401369 0.4031 0.7022 Uncertain 11_47353498_G->A 11 47353498 47353498 G A snp 350.77 0/1 99 46 27 19 0.41 intronic rs2290146 MYBPC3 AD NM_000256 exon2 c.11+66G>A 0.356629 0.623 0.251862 Uncertain 11_47354068_G->A 11 47354068 47354068 G A snp 900.77 0/1 99 72 38 34 0.47 intronic rs3729802 MYBPC3 AD NM_000256 exon4 c.695-48G>A 0.341454 0.622 0.223411 0.2529 0.6074 Uncertain 11_47354787_C->T 11 47354787 47354787 C T snp 2507.77 0/1 99 166 67 99 0.6 exonic rs1052373 MYBPC3 AD synonymous SNV NM_000256 exon29 c.G3288A p.E1096E 0.476238 0.7202 0.355036 0.4707 0.7248 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|Cardiomyopathy;CLNREVSTAT=criteria_provided\x2c_single_submitter|criteria_provided\x2c_single_submitter;CLNACC=RCV000035574.3|RCV000126912.2;CLNDSDB=MedGen|MedGen;CLNDSDBID=CN169374|CN001491 Uncertain 11_47361084_T->C 11 47361084 47361084 T C snp 1355.77 1/1 99 41 0 41 1.0 intronic rs2856653 MYBPC3 AD NM_000256 exon15 c.7780-117T>C 0.764976 0.9782 Uncertain 11_47362431_A->G 11 47362431 47362431 A G snp 1340.77 1/1 96 40 0 40 1.0 intronic rs2697926 MYBPC3 AD NM_000256 exon16 c.9132-122A>G 0.992812 1 Uncertain 11_47362465_G->C 11 47362465 47362465 G C snp 1335.77 0/1 99 86 35 51 0.59 intronic rs10769254 MYBPC3 AD NM_000256 exon16 c.9132-88G>C 0.340056 0.5952 Uncertain 11_47364762_A->G 11 47364762 47364762 A G snp 5236.77 1/1 99 187 0 187 1.0 intronic rs896818 MYBPC3 AD NM_000256 exon21 c.11278+63A>G 0.964058 1 0.965862 0.9901 1 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000168770.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 11_47365199_G->A 11 47365199 47365199 G A snp 815.77 0/1 99 75 35 40 0.53 intronic rs2856650 MYBPC3 AD NM_000256 exon22 c.11754+24G>A 0.249601 0.2778 0.240563 0.3159 0.3087 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000168765.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 11_47371485_G->- 11 47371485 47371485 G - indel 3624.73 1/1 99 99 0 99 1.0 intronic rs11570050 MYBPC3 AD NM_000256 exon30 c.18052+12delG 0.610823 0.6607 0.620383 0.6879 0.6438 CLINSIG=non-pathogenic;CLNDBN=Cardiomyopathy;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000158063.1;CLNDSDB=MedGen;CLNDSDBID=CN001491 Uncertain 11_47380061_A->C 11 47380061 47380061 A C snp 814.77 1/1 60 26 0 26 1.0 intronic rs10734557 SPI1 AU NM_001080547 exon2 c.3617-333A>C 0.701877 0.7242 Uncertain 11_47380087_G->T 11 47380087 47380087 G T snp 761.77 0/1 99 44 14 30 0.68 intronic rs61897389 SPI1 AU NM_001080547 exon2 c.3617-307G>T 0.0664936 0.0347 Uncertain 11_47380340_G->T 11 47380340 47380340 G T snp 485.77 0/1 99 57 34 23 0.4 intronic rs3740688 SPI1 AU NM_001080547 exon2 c.3617-54G>T 0.639177 0.6865 0.6317 0.6794 0 D 0.0 P -0.972 T 0.159 T 0.107 T Uncertain 11_47380593_G->A 11 47380593 47380593 G A snp 308.77 0/1 99 24 11 13 0.54 intronic rs3740689 SPI1 AU NM_001080547 exon2 c.3780+36G>A 0.427516 0.4831 0.445726 0.5400 0.4645 Uncertain 11_47381642_A->G 11 47381642 47381642 A G snp 206.77 0/1 99 31 21 10 0.32 intronic rs61897390 SPI1 AU NM_001080547 exon3 c.4814+51A>G 0.0640974 0.0337 0.087014 0.0846 0.0189 Uncertain 11_47431703_A->G 11 47431703 47431703 A G snp 773.77 0/1 99 86 51 35 0.41 exonic rs61897432 SLC39A13 AR nonsynonymous SNV NM_152264 exon2 c.A58G p.T20A 0.0764776 0.0466 0.120485 0.1118 0.0335 0.77 T 0.0 P -1.080 T 0.002 T 0.007 T Pathogenic 11_47431728_A->G 11 47431728 47431728 A G snp 2874.77 1/1 99 102 1 101 0.99 exonic rs2010519 SLC39A13 AR nonsynonymous SNV NM_152264 exon2 c.A83G p.E28G 0.940495 1 0.944128 0.9854 1 1 T 0.0 P -0.918 T 0.0 T 0.0 T Pathogenic 11_47432034_G->C 11 47432034 47432034 G C snp 1496.77 1/1 99 39 0 39 1.0 intronic rs755554 SLC39A13 AR NM_152264 exon2 c.301+88G>C 0.646965 0.7411 Uncertain 11_47434986_G->A 11 47434986 47434986 G A snp 1467.77 0/1 99 131 65 66 0.5 exonic rs2293576 SLC39A13 AR synonymous SNV NM_152264 exon5 c.G573A p.A191A 0.270567 0.3988 0.245807 0.3116 0.3689 Uncertain 11_47436531_G->T 11 47436531 47436531 G T snp 1891.77 1/1 99 71 0 71 1.0 intronic rs11039228 SLC39A13 AR NM_001128225 exon9 c.4944-58G>T 0.99381 1 Uncertain 11_47440758_G->A 11 47440758 47440758 G A snp 1412.77 0/1 99 122 65 57 0.47 intronic rs2293579 PSMC3 AU NM_002804 exon2 c.363+10G>A 0.318291 0.3968 0.311663 0.3556 0.3665 Uncertain 11_47447346_C->T 11 47447346 47447346 C T snp 829.77 0/1 99 76 41 35 0.46 intronic rs10838709 PSMC3 AU NM_002804 exon11 c.7032-71C>T 0.327276 0.3988 Uncertain 11_47447955_C->G 11 47447955 47447955 C G snp 235.77 0/1 99 17 7 10 0.59 UTR5 rs7948705 PSMC3 AU 0.317292 0.3413 Uncertain 11_47459469_G->A 11 47459469 47459469 G A snp 808.77 0/1 99 90 49 41 0.46 UTR3 rs45617144 RAPSN AR 0.0712859 0.0466 0.116732 0.0984 0.0547 0 D 0.000 P -0.390 T Uncertain 11_47460098_C->T 11 47460098 47460098 C T snp 171.77 0/1 99 20 14 6 0.3 intronic rs10769267 RAPSN AR NM_005055 exon2 c.757-184C>T 0.625 0.6577 Uncertain 11_47460306_A->G 11 47460306 47460306 A G snp 1600.77 0/1 99 128 62 66 0.52 exonic rs7126210 RAPSN AR synonymous SNV NM_005055 exon7 c.T1143C p.P381P 0.6248 0.6567 0.612314 0.6837 0.6249 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000118117.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 11_47462838_G->- 11 47462838 47462838 G - indel 1225.73 1/1 99 46 0 46 1.0 intronic rs10716680 RAPSN AR NM_005055 exon3 c.3238+75delG 1 1 0.999680 Uncertain 11_47463220_C->T 11 47463220 47463220 C T snp 2571.77 0/1 99 216 99 117 0.54 exonic rs45603036 RAPSN AR synonymous SNV NM_005055 exon5 c.G855A p.Q285Q 0.0714856 0.0466 0.117172 0.1142 0.0338 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000118120.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 11_47469439_A->G 11 47469439 47469439 A G snp 2431.77 0/1 99 223 122 101 0.45 exonic rs7111873 RAPSN AR synonymous SNV NM_005055 exon2 c.T456C p.Y152Y 0.625599 0.6587 0.620114 0.6847 0.6450 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000118119.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 11_47469717_G->A 11 47469717 47469717 G A snp 2008.77 0/1 99 135 55 80 0.59 intronic rs45547231 RAPSN AR NM_005055 exon7 c.10177+15G>A 0.0764776 0.0466 0.122730 0.1136 0.0335 CLINSIG=pathogenic;CLNDBN=MYASTHENIC_SYNDROME\x2c_CONGENITAL\x2c_11\x2c_ASSOCIATED_WITH_ACETYLCHOLINE_RECEPTOR_DEFICIENCY;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000008519.3;CLNDSDB=MedGen:OMIM;CLNDSDBID=C1837094:616326 Uncertain 11_47496827_C->T 11 47496827 47496827 C T snp 304.77 0/1 99 15 6 9 0.6 intronic rs7102372 CELF1 AU NM_006560 exon4 c.3106-60C>T 0.0750799 0.0476 Uncertain 11_47500400_C->T 11 47500400 47500400 C T snp 260.77 0/1 99 21 11 10 0.48 intronic rs12224672 CELF1 AU NM_006560 exon7 c.6647-28C>T 0.19369 0.3264 0.206339 0.2713 0.3200 Uncertain 11_47587578_C->- 11 47587578 47587578 C - indel 4656.73 1/1 99 137 0 137 1.0 intronic rs398016003 PTPMT1 AU NM_175732 exon2 c.364+40delC 1 1 Uncertain 11_47599714_A->G 11 47599714 47599714 A G snp 139.03 1/1 12 4 0 4 1.0 intronic rs4331047 KBTBD4 AU NM_018095 exon3 c.5099+134A>G 0.985623 1 Uncertain 11_47600438_C->T 11 47600438 47600438 C T snp 269.77 0/1 99 26 16 10 0.38 UTR5 rs2280231 KBTBD4 AU 0.193291 0.3234 0.213316 0.2595 0.3339 Uncertain 11_47601977_C->T 11 47601977 47601977 C T snp 468.77 1/1 39 13 0 13 1.0 intronic rs2233354 NDUFS3 AR,XD,AO NM_004551 exon3 c.1433-99C>T 0.984824 1 Uncertain 11_47609867_G->A 11 47609867 47609867 G A snp 6018.77 1/1 99 217 0 217 1.0 exonic rs4486587 FAM180B AU nonsynonymous SNV NM_001164379 exon3 c.G433A p.A145T 0.984824 1 0.982917 0.9916 1 0 D 0.000 P -1.056 T 0.001 T 0.004 T Pathogenic 11_47611316_C->G 11 47611316 47611316 C G snp 879.77 1/1 66 25 0 25 1.0 UTR3 rs10769279 C1QTNF4 AU 0.985623 1 Uncertain 11_47640337_T->C 11 47640337 47640337 T C snp 654.77 0/1 99 89 59 30 0.34 UTR3 rs72909879 MTCH2 AU 0.0002 0 Uncertain 11_47640349_G->A 11 47640349 47640349 G A snp 648.77 0/1 99 113 78 35 0.31 UTR3 rs78476140 MTCH2 AU 0.0001 0 Uncertain 11_47640350_G->A 11 47640350 47640350 G A snp 642.77 0/1 99 115 80 35 0.3 UTR3 rs77215521 MTCH2 AU 0.0001 0 Uncertain 11_47640355_C->T 11 47640355 47640355 C T snp 667.77 0/1 99 122 86 36 0.3 UTR3 rs76999459 MTCH2 AU 0.0001 0 Uncertain 11_47640367_T->A 11 47640367 47640367 T A snp 804.77 0/1 99 144 99 45 0.31 UTR3 rs76315325 MTCH2 AU 0.0028 0 Uncertain 11_47640398_T->C 11 47640398 47640398 T C snp 719.77 0/1 99 177 134 43 0.24 exonic rs73465610 MTCH2 AU nonsynonymous SNV NM_014342 exon13 c.A899G p.K300R 0.0049 0 0.77 T 0.823 N -0.867 T 0.0 T 0.002 T Pathogenic 11_47660287_T->C 11 47660287 47660287 T C snp 198.77 0/1 99 88 74 14 0.16 exonic rs79167377 MTCH2 AU synonymous SNV NM_014342 exon3 c.A243G p.G81G Uncertain 11_47660294_C->T 11 47660294 47660294 C T snp 217.77 0/1 99 87 73 14 0.16 exonic MTCH2 AU nonsynonymous SNV NM_014342 exon3 c.G236A p.C79Y 0.04 T 1 D -0.418 T 0.997 D 0.921 D Pathogenic 11_47660295_A->G 11 47660295 47660295 A G snp 252.77 0/1 99 88 73 15 0.17 exonic MTCH2 AU nonsynonymous SNV NM_014342 exon3 c.T235C p.C79R 0.03 T 1 D -0.449 T 0.997 D 0.921 D Pathogenic 11_47660301_T->A 11 47660301 47660301 T A snp 277.77 0/1 99 93 76 17 0.18 exonic MTCH2 AU stopgain NM_014342 exon3 c.A229T p.R77X 1 T 1 D Pathogenic 11_47684450_C->A 11 47684450 47684450 C A snp 219.84 1/1 18 7 0 7 1.0 intronic rs6485766 AGBL2 AU NM_024783 exon2 c.2853-127C>A 0.99381 1 Uncertain 11_47684770_G->A 11 47684770 47684770 G A snp 379.77 0/1 99 21 9 12 0.57 intronic rs189592919 AGBL2 AU NM_024783 exon2 c.2940+106G>A 0.000199681 0.001 Uncertain 11_47689343_C->T 11 47689343 47689343 C T snp 3979.77 1/1 99 144 0 144 1.0 intronic rs10742817 AGBL2 AU NM_024783 exon4 c.7524+95C>T 0.350639 0.4306 Uncertain 11_47703311_G->A 11 47703311 47703311 G A snp 86.77 0/1 28 4 1 3 0.75 intronic rs79408863 AGBL2 AU NM_024783 exon8 c.21796-209G>A 0.0652955 0.0516 Uncertain 11_47736314_C->G 11 47736314 47736314 C G snp 610.77 1/1 45 19 1 18 0.95 intronic rs4752863 AGBL2 AU NM_024783 exon18 c.54578+12C>G 0.910144 1 Uncertain 11_47755553_A->- 11 47755553 47755553 A - indel 171.73 0/1 99 34 13 21 0.62 intronic rs530350444 FNBP4 AU NM_015308 exon8 c.16603-23delA 0.356829 0.3006 0.2469 0.2301 Uncertain 11_47772401_C->T 11 47772401 47772401 C T snp 432.77 1/1 33 13 0 13 1.0 intronic rs11039366 FNBP4 AU NM_015308 exon12 c.33494-66C>T 0.99361 1 Uncertain 11_47772963_G->C 11 47772963 47772963 G C snp 136.03 1/1 12 4 0 4 1.0 intronic rs75671270 FNBP4 AU NM_015308 exon13 c.33869+121G>C 0.0644968 0.0565 Uncertain 11_47774366_-->AAAC 11 47774366 47774366 - AAAC indel 243.73 0/1 99 8 3 5 0.63 intronic rs151189779 FNBP4 AU NM_015308 exon14 c.35494-101insAAAC 0.279153 0.381 Uncertain 11_47776047_G->A 11 47776047 47776047 G A snp 2555.77 1/1 99 90 0 90 1.0 intronic rs7928954 FNBP4 AU NM_015308 exon15 c.37106-32G>A 1 1 0.999680 1.0000 1 Uncertain 11_47776283_C->T 11 47776283 47776283 C T snp 1861.77 1/1 99 57 0 57 1.0 intronic rs7929014 FNBP4 AU NM_015308 exon15 c.37243+67C>T 0.344649 0.4355 Uncertain 11_47788664_GGTGGT->- 11 47788664 47788669 GGTGGT - indel 3354.73 1/1 99 43 0 43 1.0 exonic rs397711020 FNBP4 AU nonframeshift deletion NM_015308 exon1 c.172_177del p.58_59del 0.34385 0.4345 0.281956 0.4956 0.4063 ID=COSM244569;OCCURENCE=1(central_nervous_system),1(liver),1(prostate),2(skin),1(breast) Uncertain 11_47788695_G->C 11 47788695 47788695 G C snp 695.77 0/1 99 58 32 26 0.45 exonic rs11039375 FNBP4 AU nonsynonymous SNV NM_015308 exon1 c.C146G p.P49R 0.0081869 0.0367 0.0074 0.0942 0.3 T 1.000 N -1.060 T 0.089 T 0.048 T Pathogenic 11_47800904_T->C 11 47800904 47800904 T C snp 37.77 0/1 66 7 5 2 0.29 intronic rs60137857 NUP160 AU NM_015231 exon1 c.90+158T>C 0.076877 0.0565 Uncertain 11_47801101_A->G 11 47801101 47801101 A G snp 2434.77 1/1 99 94 0 94 1.0 intronic rs7114813 NUP160 AU NM_015231 exon1 c.90+355A>G 0.344449 0.4355 0.366224 0.4129 0.3813 Uncertain 11_47802093_TT->- 11 47802093 47802094 TT - indel 474.73 0/1 58 41 5 36 0.88 intronic rs200363262 NUP160 AU NM_015231 exon2 c.1343+94_1343+95delTT 0.652955 0.6865 Uncertain 11_47806656_A->T 11 47806656 47806656 A T snp 80.28 1/1 9 3 0 3 1.0 intronic rs538421016 NUP160 AU NM_015231 exon4 c.5959+41A>T 0.101837 0.1339 0.0255 0.0221 Uncertain 11_47813436_C->T 11 47813436 47813436 C T snp 1723.77 1/1 99 57 0 57 1.0 intronic rs10742821 NUP160 AU NM_015231 exon8 c.12825-45C>T 0.994209 1 0.995769 0.9989 1 Uncertain 11_47814280_A->G 11 47814280 47814280 A G snp 1734.77 1/1 99 59 0 59 1.0 intronic rs754434 NUP160 AU NM_015231 exon9 c.13681-57A>G 0.345447 0.4355 Uncertain 11_47826090_A->C 11 47826090 47826090 A C snp 3866.77 1/1 99 155 0 155 1.0 intronic rs11039402 NUP160 AU NM_015231 exon16 c.25444-10A>C 0.344848 0.4355 0.354285 0.4102 0.3879 Uncertain 11_47828558_A->G 11 47828558 47828558 A G snp 1113.77 0/1 99 103 57 46 0.45 intronic rs77201654 NUP160 AU NM_015231 exon18 c.27965-63A>G 0.0822684 0.0565 0.131844 Uncertain 11_47834346_G->A 11 47834346 47834346 G A snp 2707.77 1/1 99 98 2 96 0.98 intronic rs10838773 NUP160 AU NM_015231 exon22 c.33777-87G>A 0.345048 0.4365 Uncertain 11_47834592_G->A 11 47834592 47834592 G A snp 1782.77 1/1 99 51 0 51 1.0 exonic rs7110289 NUP160 AU synonymous SNV NM_015231 exon15 c.C1794T p.D598D 0.99361 1 0.994615 0.9986 1 Uncertain 11_47837333_T->C 11 47837333 47837333 T C snp 439.77 0/1 99 28 12 16 0.57 intronic rs17727140 NUP160 AU NM_015231 exon24 c.36545+132T>C 0.0770767 0.0565 Uncertain 11_47837408_G->C 11 47837408 47837408 G C snp 4545.77 1/1 99 151 0 151 1.0 intronic rs6485786 NUP160 AU NM_015231 exon25 c.36841-89G>C 0.345647 0.4365 Uncertain 11_47837638_G->A 11 47837638 47837638 G A snp 1930.77 1/1 99 59 0 59 1.0 intronic rs7130715 NUP160 AU NM_015231 exon25 c.36925+57G>A 0.909145 1 0.929855 Uncertain 11_47857253_T->C 11 47857253 47857253 T C snp 5265.77 1/1 99 194 2 192 0.99 exonic rs3816605 NUP160 AU nonsynonymous SNV NM_015231 exon7 c.A1051G p.T351A 0.345847 0.4355 0.357132 0.4164 0.3902 0.74 T 1.000 P -0.909 T 0.0 T 0.004 T Pathogenic 11_47861581_T->C 11 47861581 47861581 T C snp 617.77 0/1 99 53 30 23 0.43 exonic rs200557252 NUP160 AU nonsynonymous SNV NM_015231 exon4 c.A562G p.T188A 0.000798722 0.004 0.0002 0.0022 0.46 T 1 D -1.028 T 0.187 T 0.191 T Pathogenic 11_47869201_G->- 11 47869201 47869201 G - indel 208.75 1/1 24 9 0 9 1.0 intronic rs398016017 NUP160 AU NM_015231 exon35 c.68743-198delG Uncertain 11_47869855_C->T 11 47869855 47869855 C T snp 2024.77 0/1 99 181 96 85 0.47 exonic rs2305984 NUP160 AU nonsynonymous SNV NM_015231 exon1 c.G118A p.A40T 0.0489217 0.2341 0.0157 0.2024 0.35 T 0.0 P -1.049 T 0.672 T 0.194 P Pathogenic 11_48118199_G->C 11 48118199 48118199 G C snp 224.77 0/1 99 21 12 9 0.43 intronic rs4752806 PTPRJ AU NM_001098503 exon2 c.129145-13410G>C 0.721645 0.8036 Uncertain 11_48118347_-->A 11 48118347 48118347 - A indel 2119.73 0/1 99 135 72 63 0.47 ncRNA_exonic rs11382316 MIR3161 AU 0.7602 0.8485 Uncertain 11_48142529_T->- 11 48142529 48142529 T - indel 137.73 0/1 58 16 5 11 0.69 intronic rs34681195 PTPRJ AU NM_001098503 exon4 c.140090-25delT 0.541733 0.5516 0.4707 0.5054 Uncertain 11_48145166_G->A 11 48145166 48145166 G A snp 179.77 0/1 99 19 12 7 0.37 exonic rs2270993 PTPRJ AU synonymous SNV NM_002843 exon5 c.G618A p.E206E 0.155551 0.1597 0.163256 0.1403 0.1679 Uncertain 11_48145247_T->C 11 48145247 48145247 T C snp 660.77 0/1 99 63 33 30 0.48 exonic rs2270992 PTPRJ AU synonymous SNV NM_002843 exon5 c.T699C p.T233T 0.452276 0.4812 0.468611 0.5721 0.5380 Uncertain 11_48157869_T->C 11 48157869 48157869 T C snp 2093.77 0/1 99 155 68 87 0.56 intronic rs2270994 PTPRJ AU NM_002843 exon9 c.155384+21T>C 0.455272 0.4861 0.467918 0.5761 0.5437 Uncertain 11_48166267_G->C 11 48166267 48166267 G C snp 2500.77 0/1 99 233 123 110 0.47 exonic rs4752904 PTPRJ AU nonsynonymous SNV NM_002843 exon13 c.G2616C p.E872D 0.367212 0.3839 0.431297 0.5153 0.4213 1 T 1.000 P -0.911 T 0.007 T 0.006 T ID=CM043073;DIS=Thyroid cancer, risk, association with;TAG=DP;PUB=15378013 DP Pathogenic 11_48170757_-->T 11 48170757 48170757 - T indel 144.73 0/1 99 15 8 7 0.47 intronic rs148648806 PTPRJ AU NM_002843 exon16 c.168534-241insT 0.0151757 0.0714 Uncertain 11_48170870_T->G 11 48170870 48170870 T G snp 3774.77 1/1 99 136 0 136 1.0 intronic rs4752908 PTPRJ AU NM_002843 exon16 c.168534-128T>G 0.978634 1 Uncertain 11_48171793_T->C 11 48171793 48171793 T C snp 3247.77 1/1 99 123 0 123 1.0 intronic rs10734565 PTPRJ AU NM_002843 exon18 c.169271+58T>C 0.978235 0.999 0.982041 Uncertain 11_48181721_G->T 11 48181721 48181721 G T snp 139.03 1/1 12 4 0 4 1.0 intronic rs4752911 PTPRJ AU NM_002843 exon22 c.179137+120G>T 0.990615 1 Uncertain 11_48184972_CTTT->- 11 48184972 48184975 CTTT - indel 6240.73 0/1 99 193 91 102 0.53 intronic rs373940864 PTPRJ AU NM_002843 exon23 c.182545-37_182545-34delCTTT 0.357029 0.3849 0.414519 0.5064 0.4205 Uncertain 11_48184983_G->T 11 48184983 48184983 G T snp 2789.77 0/1 99 210 98 112 0.53 intronic rs2270990 PTPRJ AU NM_002843 exon23 c.182545-26G>T 0.719649 0.7738 0.678593 0.7494 0.7699 Uncertain 11_48186104_C->A 11 48186104 48186104 C A snp 548.77 0/1 99 51 27 24 0.47 intronic rs12225986 PTPRJ AU NM_002843 exon24 c.183603+37C>A 0.0844649 0.1468 0.086090 0.1167 0.1651 Uncertain 11_48186137_G->T 11 48186137 48186137 G T snp 33.77 0/1 62 4 2 2 0.5 intronic PTPRJ AU NM_002843 exon24 c.183603+70G>T Uncertain 11_48238302_G->T 11 48238302 48238302 G T snp 1023.77 1/1 75 31 0 31 1.0 upstream rs1566737 OR4B1 AU 0.607228 0.5526 Uncertain 11_48238421_T->G 11 48238421 48238421 T G snp 2560.77 1/1 99 89 0 89 1.0 exonic rs10769329 OR4B1 AU synonymous SNV NM_001005470 exon1 c.T60G p.A20A 0.977835 1 0.976612 0.9939 1 Uncertain 11_48238880_C->T 11 48238880 48238880 C T snp 1240.77 0/1 99 119 71 48 0.4 exonic rs10838833 OR4B1 AU synonymous SNV NM_001005470 exon1 c.C519T p.D173D 0.172724 0.1637 0.178181 0.1463 0.1699 Uncertain 11_48266582_A->C 11 48266582 48266582 A C snp 3194.83 1/1 99 116 0 116 1.0 upstream rs7120549 OR4X2 AU 0.988618 1 Uncertain 11_48266736_C->G 11 48266736 48266736 C G snp 2176.77 0/1 99 168 81 87 0.52 exonic rs7120775 OR4X2 AU stopgain NM_001004727 exon1 c.C81G p.Y27X 0.17472 0.1627 0.178489 0.1476 0.1708 1 T 1.0 P Pathogenic 11_48267589_A->G 11 48267589 48267589 A G snp 1274.77 1/1 93 42 0 42 1.0 downstream rs1503180 OR4X2 AU 0.988618 1 0.988768 0.9970 1 Uncertain 11_48285301_A->G 11 48285301 48285301 A G snp 895.77 1/1 66 25 0 25 1.0 upstream rs713325 OR4X1 AU 0.58766 0.5476 Uncertain 11_48285842_A->G 11 48285842 48285842 A G snp 7845.77 1/1 99 250 1 249 1.0 exonic rs1503193 OR4X1 AU nonsynonymous SNV NM_001004726 exon1 c.A430G p.R144G 0.988618 1 0.988768 0.9970 1 0.53 T 0.0 P -0.975 T 0.0 T 0.0 T Pathogenic 11_48285856_C->T 11 48285856 48285856 C T snp 7519.77 1/1 99 250 0 250 1.0 exonic rs10838850 OR4X1 AU synonymous SNV NM_001004726 exon1 c.C444T p.G148G 0.603834 0.5476 0.690722 0.7035 0.5895 Uncertain 11_48285906_C->T 11 48285906 48285906 C T snp 3165.77 0/1 99 247 125 122 0.49 exonic rs16905753 OR4X1 AU nonsynonymous SNV NM_001004726 exon1 c.C494T p.P165L 0.182708 0.1627 0.185875 0.1490 0.1706 0 D 0.081 P -0.932 T 0.604 T 0.299 P Pathogenic 11_48285982_CTT->- 11 48285982 48285984 CTT - indel 13511.7 1/1 99 245 0 245 1.0 exonic rs398055234 OR4X1 AU nonframeshift deletion NM_001004726 exon1 c.570_572del p.190_191del 0.604034 0.5476 0.691534 0.7030 0.5896 Uncertain 11_48286231_T->A 11 48286231 48286231 T A snp 5438.77 1/1 99 199 0 199 1.0 exonic rs10838851 OR4X1 AU stopgain NM_001004726 exon1 c.T819A p.Y273X 0.604233 0.5476 0.690645 0.7037 0.5918 1 T 1.000 P ID=CM074974;DIS=Altered pulmonary function, association with;TAG=DP;PUB=17964544 DP Pathogenic 11_48286256_C->T 11 48286256 48286256 C T snp 1776.77 0/1 99 176 99 77 0.44 exonic rs10838852 OR4X1 AU nonsynonymous SNV NM_001004726 exon1 c.C844T p.P282S 0.384185 0.3829 0.448377 0.5123 0.4198 0 D 0.273 P -0.899 T 1.0 D 0.999 D Pathogenic 11_48328818_C->T 11 48328818 48328818 C T snp 458.77 0/1 99 17 4 13 0.76 downstream rs11039669 OR4S1 AU 0.17492 0.1627 Uncertain 11_48346450_A->G 11 48346450 48346450 A G snp 244.77 0/1 99 18 10 8 0.44 upstream rs79776366 OR4C3 AU 0.3867 0.3805 Uncertain 11_48346458_A->G 11 48346458 48346458 A G snp 285.77 0/1 99 23 14 9 0.39 upstream rs77295176 OR4C3 AU 0.3868 0.3800 Uncertain 11_48346488_C->- 11 48346488 48346488 C - indel 757.73 0/1 99 63 37 26 0.41 upstream rs33950768 OR4C3 AU 0.396406 0.2571 0.2196 Uncertain 11_48346513_T->C 11 48346513 48346513 T C snp 1062.77 0/1 99 103 60 43 0.42 exonic rs78206553 OR4C3 AU synonymous SNV NM_001004702 exon1 c.T21C p.L7L 0.2672 0.2336 Uncertain 11_48346523_C->T 11 48346523 48346523 C T snp 1266.77 0/1 99 126 74 52 0.41 exonic rs72911451 OR4C3 AU nonsynonymous SNV NM_001004702 exon1 c.C31T p.L11F 0.2477 0.2118 0.01 T 1 N -1.002 T Pathogenic 11_48346535_G->C 11 48346535 48346535 G C snp 1427.77 0/1 99 157 94 63 0.4 exonic rs76964780 OR4C3 AU nonsynonymous SNV NM_001004702 exon1 c.G43C p.G15R 0.1970 0.1492 0.07 T 1 N -0.984 T Pathogenic 11_48346541_A->T 11 48346541 48346541 A T snp 1812.77 0/1 99 176 102 74 0.42 exonic rs75498992 OR4C3 AU nonsynonymous SNV NM_001004702 exon1 c.A49T p.T17S 0.2215 0.1763 0.46 T 1 N -0.965 T Pathogenic 11_48346547_C->T 11 48346547 48346547 C T snp 1887.77 0/1 99 191 114 77 0.4 exonic rs79042268 OR4C3 AU nonsynonymous SNV NM_001004702 exon1 c.C55T p.P19S 0.2316 0.1868 1 T 0.0 P -0.955 T Pathogenic 11_48346551_C->A 11 48346551 48346551 C A snp 1890.77 0/1 99 196 115 81 0.41 exonic rs77470587 OR4C3 AU nonsynonymous SNV NM_001004702 exon1 c.C59A p.A20E 0.2427 0.2015 0.07 T 1 N -0.949 T Pathogenic 11_48346579_C->A 11 48346579 48346579 C A snp 2308.77 0/1 99 249 143 106 0.43 exonic rs72911452 OR4C3 AU nonsynonymous SNV NM_001004702 exon1 c.C87A p.D29E 0.4252 0.4084 1 T 1 N -0.942 T 0.0 T 0.001 T Pathogenic 11_48346588_A->C 11 48346588 48346588 A C snp 2323.77 0/1 99 250 143 107 0.43 exonic rs75900655 OR4C3 AU nonsynonymous SNV NM_001004702 exon1 c.A96C p.Q32H 0.4339 0.4227 0.19 T 1 N -0.946 T 0.0 T 0.0 T Pathogenic 11_48346604_T->G 11 48346604 48346604 T G snp 2442.77 0/1 99 249 146 103 0.41 exonic rs75647397 OR4C3 AU nonsynonymous SNV NM_001004702 exon1 c.T112G p.F38V 0.4445 0.4349 0.5 T 1.000 N -0.970 T 0.0 T 0.0 T Pathogenic 11_48346615_G->A 11 48346615 48346615 G A snp 2452.77 0/1 99 250 145 105 0.42 exonic rs73463988 OR4C3 AU synonymous SNV NM_001004702 exon1 c.G123A p.G41G 0.4457 0.4344 Uncertain 11_48346661_TTGCTGATC->- 11 48346661 48346669 TTGCTGATC - indel 10460.7 0/1 99 249 147 102 0.41 exonic rs138704181 OR4C3 AU nonframeshift deletion NM_001004702 exon1 c.169_177del p.57_59del 0.4580 0.4354 ID=COSM1163639;OCCURENCE=2(pancreas),1(large_intestine) Uncertain 11_48346681_G->A 11 48346681 48346681 G A snp 2273.77 0/1 99 249 154 95 0.38 exonic rs78490540 OR4C3 AU synonymous SNV NM_001004702 exon1 c.G189A p.T63T 0.4850 0.4738 Uncertain 11_48346729_G->C 11 48346729 48346729 G C snp 2152.77 0/1 99 250 154 96 0.38 exonic rs73463990 OR4C3 AU synonymous SNV NM_001004702 exon1 c.G237C p.T79T 0.4999 0.4995 Uncertain 11_48346791_C->T 11 48346791 48346791 C T snp 2905.77 0/1 99 250 146 104 0.42 exonic rs73463994 OR4C3 AU nonsynonymous SNV NM_001004702 exon1 c.C299T p.S100F 0.5000 0.5 0 D 0.994 N -1.000 T 0.007 T 0.044 T Pathogenic 11_48346822_A->C 11 48346822 48346822 A C snp 3105.77 0/1 99 250 131 119 0.48 exonic rs73463997 OR4C3 AU synonymous SNV NM_001004702 exon1 c.A330C p.S110S 0.5000 0.5 Uncertain 11_48346843_C->T 11 48346843 48346843 C T snp 3300.77 0/1 99 250 126 124 0.5 exonic rs73463998 OR4C3 AU synonymous SNV NM_001004702 exon1 c.C351T p.I117I 0.5000 0.4999 Uncertain 11_48346916_G->C 11 48346916 48346916 G C snp 2869.77 0/1 99 250 145 105 0.42 exonic rs77069283 OR4C3 AU nonsynonymous SNV NM_001004702 exon1 c.G424C p.V142L 0.5000 0.5 0.18 T 1.000 N -1.033 T 0.001 T 0.012 T Pathogenic 11_48346924_T->C 11 48346924 48346924 T C snp 2762.77 0/1 99 250 148 102 0.41 exonic rs72911454 OR4C3 AU synonymous SNV NM_001004702 exon1 c.T432C p.A144A 0.5000 0.5 Uncertain 11_48346932_G->A 11 48346932 48346932 G A snp 2670.77 0/1 99 250 151 99 0.4 exonic rs80285195 OR4C3 AU nonsynonymous SNV NM_001004702 exon1 c.G440A p.R147H 0.00279553 0.5000 0.5 0.03 T 0.999 D -0.029 T 0.007 T 0.013 T Pathogenic 11_48346961_A->T 11 48346961 48346961 A T snp 2721.77 0/1 99 249 146 103 0.41 exonic rs75493089 OR4C3 AU nonsynonymous SNV NM_001004702 exon1 c.A469T p.N157Y 0.4996 0.5 1 T 0.771 N -0.987 T 0.0 T 0.0 T Pathogenic 11_48346962_A->G 11 48346962 48346962 A G snp 2744.77 0/1 99 249 147 102 0.41 exonic rs74589050 OR4C3 AU nonsynonymous SNV NM_001004702 exon1 c.A470G p.N157S 0.4999 0.5 0 D 0.849 N -1.067 T 0.0 T 0.0 T Pathogenic 11_48346999_T->G 11 48346999 48346999 T G snp 2907.77 0/1 99 250 144 106 0.42 exonic rs72473367 OR4C3 AU synonymous SNV NM_001004702 exon1 c.T507G p.L169L 0.4999 0.5 Uncertain 11_48347014_G->A 11 48347014 48347014 G A snp 2767.77 0/1 99 250 147 103 0.41 exonic rs72473368 OR4C3 AU stopgain NM_001004702 exon1 c.G522A p.W174X 0.5000 0.5 1 T 1 D Pathogenic 11_48347023_C->T 11 48347023 48347023 C T snp 2578.77 0/1 99 249 146 103 0.41 exonic rs67077733 OR4C3 AU synonymous SNV NM_001004702 exon1 c.C531T p.G177G 0.5000 0.5 Uncertain 11_48347067_C->T 11 48347067 48347067 C T snp 2632.77 0/1 99 250 152 98 0.39 exonic rs73464001 OR4C3 AU nonsynonymous SNV NM_001004702 exon1 c.C575T p.P192L 0.5000 0.5001 0 D 0.997 D -0.533 T 1.0 D 0.998 D Pathogenic 11_48347100_C->T 11 48347100 48347100 C T snp 2719.77 0/1 99 249 151 98 0.39 exonic rs73465905 OR4C3 AU nonsynonymous SNV NM_001004702 exon1 c.C608T p.A203V 0.4998 0.4997 0.27 T 1 N -1.021 T 0.0 T 0.001 T Pathogenic 11_48347124_A->G 11 48347124 48347124 A G snp 2683.77 0/1 99 250 151 99 0.4 exonic rs79019124 OR4C3 AU nonsynonymous SNV NM_001004702 exon1 c.A632G p.E211G 0.4993 0.4974 0.07 T 0.954 N -1.005 T 0.0 T 0.001 T Pathogenic 11_48347130_C->G 11 48347130 48347130 C G snp 2439.77 0/1 99 250 152 98 0.39 exonic rs77395846 OR4C3 AU nonsynonymous SNV NM_001004702 exon1 c.C638G p.A213G 0.4993 0.4974 0.01 T 0.895 N -1.050 T 0.004 T 0.013 T Pathogenic 11_48347140_T->C 11 48347140 48347140 T C snp 4791.77 0/1 99 246 81 165 0.67 exonic rs10838874 OR4C3 AU synonymous SNV NM_001004702 exon1 c.T648C p.N216N 0.397165 0.4583 0.313279 0.5499 0.5880 Uncertain 11_48347142_C->T 11 48347142 48347142 C T snp 2250.77 0/1 99 248 159 89 0.36 exonic rs79891698 OR4C3 AU nonsynonymous SNV NM_001004702 exon1 c.C650T p.T217M 0.4990 0.4963 0 D 0.980 D -0.718 T 0.508 P 0.512 P CLINSIG=untested;CLNDBN=Malignant_melanoma;CLNREVSTAT=no_assertion_provided;CLNACC=RCV000069396.2;CLNDSDB=MedGen:SNOMED_CT;CLNDSDBID=C0025202:2092003 Pathogenic 11_48347144_T->C 11 48347144 48347144 T C snp 2376.77 0/1 99 249 158 91 0.37 exonic rs79124801 OR4C3 AU nonsynonymous SNV NM_001004702 exon1 c.T652C p.Y218H 0.4991 0.4965 0.65 T 1 N -1.093 T 0.0 T 0.002 T CLINSIG=untested;CLNDBN=Malignant_melanoma;CLNREVSTAT=no_assertion_provided;CLNACC=RCV000069397.2;CLNDSDB=MedGen:SNOMED_CT;CLNDSDBID=C0025202:2092003 Pathogenic 11_48347267_T->C 11 48347267 48347267 T C snp 2099.77 0/1 99 250 155 95 0.38 exonic rs73465910 OR4C3 AU nonsynonymous SNV NM_001004702 exon1 c.T775C p.C259R 0.4983 0.4946 1 T 1.000 N -0.889 T 0.0 T 0.001 T Pathogenic 11_48347306_G->T 11 48347306 48347306 G T snp 1890.77 0/1 99 250 168 82 0.33 exonic rs73465911 OR4C3 AU nonsynonymous SNV NM_001004702 exon1 c.G814T p.V272F 0.4913 0.4813 0 D 0.803 D -1.005 T 0.175 T 0.41 T Pathogenic 11_48347342_G->A 11 48347342 48347342 G A snp 1496.77 0/1 99 244 173 71 0.29 exonic rs76958755 OR4C3 AU nonsynonymous SNV NM_001004702 exon1 c.G850A p.V284M 0.4765 0.4618 1 T 0.0 P -1.012 T 0.0 T 0.004 T Pathogenic 11_48347346_A->T 11 48347346 48347346 A T snp 1630.77 0/1 99 243 173 70 0.29 exonic rs74590631 OR4C3 AU nonsynonymous SNV NM_001004702 exon1 c.A854T p.H285L 0.4745 0.4579 0 D 0.0 P -1.074 T 0.0 T 0.001 T Pathogenic 11_48347358_C->T 11 48347358 48347358 C T snp 1390.77 0/1 99 231 169 62 0.27 exonic rs76274696 OR4C3 AU nonsynonymous SNV NM_001004702 exon1 c.C866T p.T289I 0.4558 0.4362 0.04 T 1 N -1.014 T 0.004 T 0.061 T Pathogenic 11_48347363_C->T 11 48347363 48347363 C T snp 1447.77 0/1 99 228 163 65 0.29 exonic rs77814753 OR4C3 AU nonsynonymous SNV NM_001004702 exon1 c.C871T p.P291S 0.4542 0.4345 0.43 T 0.0 P -0.976 T 0.0 T 0.019 T Pathogenic 11_48347392_T->C 11 48347392 48347392 T C snp 1191.77 0/1 99 194 139 55 0.28 exonic rs79127479 OR4C3 AU synonymous SNV NM_001004702 exon1 c.T900C p.Y300Y 0.4441 0.4198 Uncertain 11_48347419_A->G 11 48347419 48347419 A G snp 938.77 0/1 99 164 118 46 0.28 exonic rs73465913 OR4C3 AU synonymous SNV NM_001004702 exon1 c.A927G p.P309P 0.4889 0.4804 Uncertain 11_48347492_G->A 11 48347492 48347492 G A snp 613.77 0/1 99 90 61 29 0.32 downstream rs79775762 OR4C3 AU 0.4959 0.4937 Uncertain 11_48347498_A->T 11 48347498 48347498 A T snp 549.77 0/1 99 86 59 27 0.31 downstream rs78309417 OR4C3 AU 0.4948 0.4922 Uncertain 11_48347539_G->A 11 48347539 48347539 G A snp 303.77 0/1 99 44 33 11 0.25 downstream rs79172951 OR4C3 AU Uncertain 11_48349128_G->A 11 48349128 48349128 G A snp 204.77 0/1 99 16 9 7 0.44 intergenic rs76530627 OR4C3 AU Uncertain 11_48349130_A->G 11 48349130 48349130 A G snp 255.77 0/1 99 18 10 8 0.44 intergenic rs75661263 OR4C3 AU Uncertain 11_48349152_A->C 11 48349152 48349152 A C snp 614.77 0/1 99 40 17 23 0.57 intergenic rs73465924 OR4C3 AU Uncertain 11_48349171_T->C 11 48349171 48349171 T C snp 826.77 0/1 99 65 31 34 0.52 intergenic rs73465926 OR4C3 AU Uncertain 11_48349209_A->C 11 48349209 48349209 A C snp 1194.77 0/1 99 104 54 50 0.48 intergenic rs73465927 OR4C3 AU Uncertain 11_48349230_G->A 11 48349230 48349230 G A snp 1264.77 0/1 99 114 59 55 0.48 intergenic rs74884553 OR4C3 AU Uncertain 11_48349235_C->T 11 48349235 48349235 C T snp 354.77 0/1 99 118 96 22 0.19 intergenic rs10769662 OR4C3 AU Uncertain 11_48349252_G->A 11 48349252 48349252 G A snp 1597.77 0/1 99 134 67 67 0.5 intergenic rs76041098 OR4C3 AU Uncertain 11_48349312_A->G 11 48349312 48349312 A G snp 1279.77 0/1 99 110 57 53 0.48 intergenic rs79572913 OR4C3 AU Uncertain 11_48349316_T->A 11 48349316 48349316 T A snp 1229.77 0/1 99 107 56 51 0.48 intergenic rs76607933 OR4C3 AU Uncertain 11_48349320_A->T 11 48349320 48349320 A T snp 1153.77 0/1 99 97 49 48 0.49 intergenic rs77184441 OR4C3 AU Uncertain 11_48349329_C->A 11 48349329 48349329 C A snp 1106.77 0/1 99 90 44 46 0.51 intergenic rs76765071 OR4C3 AU Uncertain 11_48349375_A->T 11 48349375 48349375 A T snp 544.77 0/1 99 57 36 21 0.37 intergenic rs6486052 OR4C3 AU 0.000399361 Uncertain 11_48349377_A->T 11 48349377 48349377 A T snp 932.77 0/1 99 56 23 33 0.59 intergenic rs72911466 OR4C3 AU 0.000599042 Uncertain 11_48349389_A->C 11 48349389 48349389 A C snp 665.77 0/1 99 40 19 21 0.53 intergenic rs79223613 OR4C3 AU 0.000599042 Uncertain 11_48349391_T->C 11 48349391 48349391 T C snp 638.77 0/1 99 38 19 19 0.5 intergenic rs76599777 OR4C3 AU 0.000599042 Uncertain 11_48349392_G->A 11 48349392 48349392 G A snp 620.77 0/1 99 38 19 19 0.5 intergenic rs75079199 OR4C3 AU 0.000599042 Uncertain 11_48349394_G->A 11 48349394 48349394 G A snp 596.77 0/1 99 38 19 19 0.5 intergenic rs78755709 OR4C3 AU 0.000599042 Uncertain 11_48349407_T->C 11 48349407 48349407 T C snp 593.77 0/1 99 29 11 18 0.62 intergenic rs72911467 OR4C3 AU 0.000599042 Uncertain 11_48349425_T->C 11 48349425 48349425 T C snp 385.77 0/1 99 17 6 11 0.65 intergenic rs79941850 OR4C3 AU 0.000798722 Uncertain 11_48349441_T->C 11 48349441 48349441 T C snp 194.77 0/1 99 10 4 6 0.6 intergenic rs77423459 OR4C3 AU Uncertain 11_48349442_G->A 11 48349442 48349442 G A snp 190.77 0/1 99 10 4 6 0.6 intergenic rs77787466 OR4C3 AU 0.00239617 Uncertain 11_48349456_C->T 11 48349456 48349456 C T snp 83.77 0/1 63 5 2 3 0.6 intergenic rs77170310 OR4C3 AU Uncertain 11_48349469_A->G 11 48349469 48349469 A G snp 80.77 0/1 30 4 1 3 0.75 intergenic rs76757326 OR4C3 AU Uncertain 11_48349472_G->C 11 48349472 48349472 G C snp 46.77 0/1 33 3 1 2 0.67 intergenic rs75699753 OR4C3 AU Uncertain 11_48349903_G->A 11 48349903 48349903 G A snp 113.77 0/1 99 9 4 5 0.56 intergenic rs11039681 OR4C3 AU 0.263179 0.3968 Uncertain 11_48366812_A->C 11 48366812 48366812 A C snp 31.77 0/1 60 6 4 2 0.33 downstream rs75488365 OR4C45 AU Uncertain 11_48366829_G->A 11 48366829 48366829 G A snp 180.77 0/1 99 14 8 6 0.43 downstream rs78338548 OR4C45 AU 0.000199681 Uncertain 11_48366895_A->C 11 48366895 48366895 A C snp 829.77 0/1 99 101 60 41 0.41 downstream rs72473369 OR4C45 AU 0.000998403 0.5 0.5 Uncertain 11_48366958_T->G 11 48366958 48366958 T G snp 2327.77 0/1 99 249 150 99 0.4 exonic rs76319939 OR4C45 AU unknown 0.4999 0.5 Uncertain 11_48366971_G->C 11 48366971 48366971 G C snp 2028.77 0/1 99 250 156 94 0.38 exonic rs75689989 OR4C45 AU unknown 0.4999 0.5 Uncertain 11_48366972_G->A 11 48366972 48366972 G A snp 2132.77 0/1 99 250 157 93 0.37 exonic rs75621879 OR4C45 AU unknown 0.5000 0.5 Uncertain 11_48367050_-->AG 11 48367050 48367050 - AG indel 3662.73 0/1 99 250 157 93 0.37 exonic rs113897236 OR4C45 AU unknown 0.482852 0.5000 0.5 Uncertain 11_48367073_A->C 11 48367073 48367073 A C snp 4533.77 0/1 99 250 87 163 0.65 exonic rs7941588 OR4C45 AU unknown 0.795527 0.8353 0.8338 0.8797 Uncertain 11_48367097_A->G 11 48367097 48367097 A G snp 1848.77 0/1 99 250 170 80 0.32 exonic rs73453179 OR4C45 AU unknown 0.4989 0.5 Uncertain 11_48367133_C->A 11 48367133 48367133 C A snp 1670.77 0/1 99 250 172 78 0.31 exonic rs79453749 OR4C45 AU unknown 0.4761 0.4953 Uncertain 11_48367136_C->T 11 48367136 48367136 C T snp 1753.77 0/1 99 250 172 78 0.31 exonic rs78927905 OR4C45 AU unknown 0.0235623 0.4372 0.4635 Uncertain 11_48367155_T->A 11 48367155 48367155 T A snp 1674.77 0/1 99 247 176 71 0.29 exonic rs75315666 OR4C45 AU unknown 0.4071 0.4397 Uncertain 11_48367159_C->T 11 48367159 48367159 C T snp 1697.77 0/1 99 247 175 72 0.29 exonic rs75667244 OR4C45 AU unknown 0.4127 0.4415 Uncertain 11_48367163_A->G 11 48367163 48367163 A G snp 1722.77 0/1 99 250 177 73 0.29 exonic rs74650698 OR4C45 AU unknown 0.4142 0.4429 Uncertain 11_48367170_G->A 11 48367170 48367170 G A snp 1786.77 0/1 99 250 175 75 0.3 exonic rs77876442 OR4C45 AU unknown 0.4126 0.4427 Uncertain 11_48367190_A->T 11 48367190 48367190 A T snp 1605.77 0/1 99 250 179 71 0.28 exonic rs78661795 OR4C45 AU unknown 0.4054 0.4517 Uncertain 11_48367195_C->T 11 48367195 48367195 C T snp 1466.77 0/1 99 248 178 70 0.28 exonic rs79063955 OR4C45 AU unknown 0.4180 0.4551 Uncertain 11_48367249_C->T 11 48367249 48367249 C T snp 1893.77 0/1 99 243 160 83 0.34 exonic rs74815769 OR4C45 AU unknown 0.4999 0.5 Uncertain 11_48367252_G->A 11 48367252 48367252 G A snp 2030.77 0/1 99 244 159 85 0.35 exonic rs76287086 OR4C45 AU unknown 0.4999 0.5 Uncertain 11_48367311_T->C 11 48367311 48367311 T C snp 2214.77 0/1 99 232 136 96 0.41 exonic rs73453180 OR4C45 AU unknown 0.5000 0.5 Uncertain 11_48367363_C->T 11 48367363 48367363 C T snp 1815.77 0/1 99 205 120 85 0.41 exonic rs73453183 OR4C45 AU unknown 0.4994 0.4967 Uncertain 11_48367387_C->T 11 48367387 48367387 C T snp 1710.77 0/1 99 187 110 77 0.41 exonic rs78788561 OR4C45 AU unknown 0.4981 0.4969 Uncertain 11_48367419_G->A 11 48367419 48367419 G A snp 1546.77 0/1 99 168 102 66 0.39 exonic rs77576379 OR4C45 AU unknown 0.4835 0.4706 Uncertain 11_48367424_C->G 11 48367424 48367424 C G snp 1482.77 0/1 99 157 97 60 0.38 exonic rs77976451 OR4C45 AU unknown 0.4765 0.4588 Uncertain 11_48367455_G->A 11 48367455 48367455 G A snp 1134.77 0/1 99 114 69 45 0.39 exonic rs79175163 OR4C45 AU unknown 0.000199681 0.001 0.4256 0.3920 Uncertain 11_48367469_T->C 11 48367469 48367469 T C snp 856.77 0/1 99 87 54 33 0.38 exonic rs79686513 OR4C45 AU unknown 0.0253594 0.4400 0.4061 Uncertain 11_48367470_G->A 11 48367470 48367470 G A snp 807.77 0/1 99 86 54 32 0.37 exonic rs80201516 OR4C45 AU unknown 0.4332 0.3981 Uncertain 11_48367474_A->G 11 48367474 48367474 A G snp 860.77 0/1 99 79 47 32 0.41 exonic rs75116918 OR4C45 AU unknown 0.4350 0.4030 Uncertain 11_48367499_A->G 11 48367499 48367499 A G snp 643.77 0/1 99 55 28 27 0.49 exonic rs72896822 OR4C45 AU unknown 0.3753 0.3290 Uncertain 11_48367511_T->G 11 48367511 48367511 T G snp 509.77 0/1 99 46 25 21 0.46 exonic rs72896823 OR4C45 AU unknown 0.3207 0.271 Uncertain 11_48373748_C->G 11 48373748 48373748 C G snp 1367.77 0/1 99 106 54 52 0.49 exonic rs73453188 OR4C45 AU unknown 0.4984 0.5 Uncertain 11_48373770_T->A 11 48373770 48373770 T A snp 1565.77 0/1 99 144 78 66 0.46 exonic rs73453191 OR4C45 AU unknown 0.4957 0.5 Uncertain 11_48373797_C->T 11 48373797 48373797 C T snp 1593.77 0/1 99 162 95 67 0.41 exonic rs72896825 OR4C45 AU unknown 0.4943 0.4984 Uncertain 11_48373805_G->A 11 48373805 48373805 G A snp 1617.77 0/1 99 170 103 67 0.39 exonic rs75618010 OR4C45 AU unknown 0.4944 0.4984 Uncertain 11_48373815_A->G 11 48373815 48373815 A G snp 1617.77 0/1 99 178 110 68 0.38 exonic rs74350365 OR4C45 AU unknown 0.4922 0.4920 Uncertain 11_48373817_C->T 11 48373817 48373817 C T snp 1499.77 0/1 99 179 114 65 0.36 exonic rs75951679 OR4C45 AU unknown 0.4920 0.4920 Uncertain 11_48373820_A->C 11 48373820 48373820 A C snp 687.77 0/1 99 183 147 36 0.2 exonic rs3898634 OR4C45 AU unknown 0.2358 0.2464 Uncertain 11_48373827_G->A 11 48373827 48373827 G A snp 1510.77 0/1 99 186 119 67 0.36 exonic rs80081241 OR4C45 AU unknown 0.0233626 0.4928 0.4919 Uncertain 11_48373833_G->A 11 48373833 48373833 G A snp 1498.77 0/1 99 186 121 65 0.35 exonic rs75965588 OR4C45 AU unknown 0.4942 0.4951 Uncertain 11_48373834_A->G 11 48373834 48373834 A G snp 1519.77 0/1 99 188 121 67 0.36 exonic rs75261463 OR4C45 AU unknown 0.4929 0.4951 Uncertain 11_48373885_A->G 11 48373885 48373885 A G snp 2204.77 0/1 99 227 130 97 0.43 exonic rs76292854 OR4C45 AU unknown 0.4986 0.5 Uncertain 11_48373900_A->G 11 48373900 48373900 A G snp 2110.77 0/1 99 221 129 92 0.42 exonic rs77877396 OR4C45 AU unknown 0.4991 0.5 Uncertain 11_48373936_A->G 11 48373936 48373936 A G snp 1941.77 0/1 99 195 108 87 0.45 exonic rs76304554 OR4C45 AU unknown 0.4984 0.5 Uncertain 11_48373946_C->A 11 48373946 48373946 C A snp 886.77 0/1 99 187 143 44 0.24 exonic rs12797020 OR4C45 AU unknown 0.269968 0.3978 0.2272 0.3435 Uncertain 11_48373976_T->G 11 48373976 48373976 T G snp 1587.77 0/1 99 148 80 68 0.46 exonic rs80225178 OR4C45 AU unknown 0.4950 0.4984 Uncertain 11_48373986_A->G 11 48373986 48373986 A G snp 1456.77 0/1 99 134 72 62 0.46 exonic rs12420054 OR4C45 AU unknown 0.4922 0.5 Uncertain 11_48374000_-->T 11 48374000 48374000 - T indel 1150.73 0/1 99 106 50 56 0.53 upstream rs112772888 OR4C45 AU 0.4704 0.4913 Uncertain 11_48374031_G->A 11 48374031 48374031 G A snp 670.77 0/1 99 55 30 25 0.45 upstream rs72896827 OR4C45 AU 0.4939 0.4942 Uncertain 11_48374041_T->C 11 48374041 48374041 T C snp 512.77 0/1 99 44 22 22 0.5 upstream rs72896828 OR4C45 AU 0.4958 0.4979 Uncertain 11_48374072_C->T 11 48374072 48374072 C T snp 207.77 0/1 99 16 9 7 0.44 upstream rs78164721 OR4C45 AU Uncertain 11_48386929_G->A 11 48386929 48386929 G A snp 46.77 0/1 33 3 1 2 0.67 intergenic rs11822546 OR4C45 AU 0.0233626 Uncertain 11_48386956_-->A 11 48386956 48386956 - A indel 238.73 0/1 99 14 7 7 0.5 intergenic rs76073778 OR4C45 AU Uncertain 11_48386988_T->G 11 48386988 48386988 T G snp 312.77 0/1 99 47 33 14 0.3 intergenic rs10838880 OR4C45 AU 0.175719 0.1627 0.1306 0.1225 Uncertain 11_48387098_A->C 11 48387098 48387098 A C snp 2024.77 0/1 99 216 130 86 0.4 intergenic rs77594589 OR4C45 AU 0.5 0.5 0 D 1.000 D -0.677 T Uncertain 11_48387107_T->C 11 48387107 48387107 T C snp 2039.77 0/1 99 231 145 86 0.37 intergenic rs77606603 OR4C45 AU 0.4999 0.5 0.02 T 0.925 N -0.919 T Uncertain 11_48387115_G->A 11 48387115 48387115 G A snp 1938.77 0/1 99 237 151 86 0.36 intergenic rs75003399 OR4C45 AU 0.4997 0.5 Uncertain 11_48387118_G->A 11 48387118 48387118 G A snp 2022.77 0/1 99 242 153 89 0.37 intergenic rs79339252 OR4C45 AU 0.4999 0.5 Uncertain 11_48387154_A->G 11 48387154 48387154 A G snp 2017.77 0/1 99 249 164 85 0.34 intergenic rs72473370 OR4C45 AU 0.4970 0.5 Uncertain 11_48387164_G->A 11 48387164 48387164 G A snp 1845.77 0/1 99 250 166 84 0.34 intergenic rs72473371 OR4C45 AU 0.4958 0.5 0 D 1.000 N -0.954 T Uncertain 11_48387201_G->A 11 48387201 48387201 G A snp 1490.77 0/1 99 226 158 68 0.3 intergenic rs77053100 OR4C45 AU 0.3802 0.3990 1 T 1 D Uncertain 11_48387206_T->C 11 48387206 48387206 T C snp 1392.77 0/1 99 223 158 65 0.29 intergenic rs76817095 OR4C45 AU 0.3499 0.3814 0 D 0.941 N -0.834 T Uncertain 11_48387210_C->T 11 48387210 48387210 C T snp 1327.77 0/1 99 220 160 60 0.27 intergenic rs78428763 OR4C45 AU 0.3412 0.3737 0.8 T 1 N -1.072 T Uncertain 11_48387211_C->G 11 48387211 48387211 C G snp 1399.77 0/1 99 220 160 60 0.27 intergenic rs79985800 OR4C45 AU 0.3440 0.375 1 T 1 N -0.939 T Uncertain 11_48387237_C->T 11 48387237 48387237 C T snp 1754.77 0/1 99 225 155 70 0.31 intergenic rs72898877 OR4C45 AU 0.2495 0.2913 0.69 T 1 N -1.026 T Uncertain 11_48387254_A->G 11 48387254 48387254 A G snp 1686.77 0/1 99 217 151 66 0.3 intergenic rs75441735 OR4C45 AU 0.3647 0.3859 1 T 1.000 N -1.026 T Uncertain 11_48387258_C->T 11 48387258 48387258 C T snp 1532.77 0/1 99 211 149 62 0.29 intergenic rs78030134 OR4C45 AU 0.3661 0.3833 0.61 T 1 N -1.014 T Uncertain 11_48387262_G->A 11 48387262 48387262 G A snp 1523.77 0/1 99 210 151 59 0.28 intergenic rs75430864 OR4C45 AU 0.3871 0.3864 Uncertain 11_48387275_T->C 11 48387275 48387275 T C snp 1531.77 0/1 99 200 127 73 0.36 intergenic rs10838881 OR4C45 AU 0.175719 0.1627 0.1858 0.1818 0.03 T 0.160 P -0.748 T Uncertain 11_48387301_G->A 11 48387301 48387301 G A snp 1370.77 0/1 99 209 142 67 0.32 intergenic rs76220342 OR4C45 AU 0.4796 0.4773 Uncertain 11_48387335_C->A 11 48387335 48387335 C A snp 1886.77 0/1 99 231 148 83 0.36 intergenic rs73460769 OR4C45 AU 0.4984 0.5 0 D 1 N -0.963 T Uncertain 11_48387370_A->G 11 48387370 48387370 A G snp 2283.77 0/1 99 250 154 96 0.38 intergenic rs73460772 OR4C45 AU 0.4999 0.5 Uncertain 11_48387424_G->T 11 48387424 48387424 G T snp 2531.77 0/1 99 248 136 112 0.45 intergenic rs61917478 OR4C45 AU 0.4994 0.5011 0 D 1.000 N -0.941 T Uncertain 11_48387490_G->A 11 48387490 48387490 G A snp 2477.77 0/1 99 250 149 101 0.4 intergenic rs77144540 OR4C45 AU 0.4966 0.4943 Uncertain 11_48387506_A->G 11 48387506 48387506 A G snp 2522.77 0/1 99 250 152 98 0.39 intergenic rs72898882 OR4C45 AU 0.4891 0.4799 0.35 T 1 N -1.016 T Uncertain 11_48387526_G->T 11 48387526 48387526 G T snp 2169.77 0/1 99 250 158 92 0.37 intergenic rs78378263 OR4C45 AU 0.4753 0.4592 Uncertain 11_48387535_T->C 11 48387535 48387535 T C snp 1958.77 0/1 99 250 163 87 0.35 intergenic rs72898883 OR4C45 AU 0.00259585 0.001 0.4687 0.4498 Uncertain 11_48387540_G->T 11 48387540 48387540 G T snp 1879.77 0/1 99 250 165 85 0.34 intergenic rs72898885 OR4C45 AU 0.00259585 0.001 0.4621 0.4416 0.16 T 1 N -0.990 T Uncertain 11_48387580_G->T 11 48387580 48387580 G T snp 1844.77 0/1 99 250 170 80 0.32 intergenic rs78299098 OR4C45 AU 0.3701 0.2324 Uncertain 11_48387582_C->T 11 48387582 48387582 C T snp 1899.77 0/1 99 250 171 79 0.32 intergenic rs75027745 OR4C45 AU 0.00259585 0.001 0.3525 0.2214 0.01 T 1.000 D -0.962 T Uncertain 11_48387584_A->T 11 48387584 48387584 A T snp 1921.77 0/1 99 250 169 81 0.32 intergenic rs75821991 OR4C45 AU 0.00259585 0.001 0.3467 0.2155 0 D 0.999 D -1.107 T Uncertain 11_48387591_A->G 11 48387591 48387591 A G snp 2010.77 0/1 99 250 164 86 0.34 intergenic rs75297075 OR4C45 AU 0.3322 0.2005 1 T 0.990 D -0.964 T Uncertain 11_48387604_C->T 11 48387604 48387604 C T snp 1910.77 0/1 99 250 170 80 0.32 intergenic rs72898886 OR4C45 AU 0.3160 0.1912 Uncertain 11_48387630_C->T 11 48387630 48387630 C T snp 2118.77 0/1 99 249 162 87 0.35 intergenic rs73460777 OR4C45 AU 0.3567 0.2477 0 D 1 N -1.120 T Uncertain 11_48387647_A->G 11 48387647 48387647 A G snp 2404.77 0/1 99 249 156 93 0.37 intergenic rs75615667 OR4C45 AU 0.000199681 0.3783 0.2994 1 T 1 N -0.923 T Uncertain 11_48387668_C->G 11 48387668 48387668 C G snp 1061.77 0/1 99 247 196 51 0.21 intergenic rs10769651 OR4C45 AU 0.0930 0.1006 0.37 T 1 N -1.007 T Uncertain 11_48387679_A->G 11 48387679 48387679 A G snp 2316.77 0/1 99 250 159 91 0.36 intergenic rs76209049 OR4C45 AU 0.3956 0.3878 Uncertain 11_48387684_T->- 11 48387684 48387684 T - indel 2452.73 0/1 99 250 153 97 0.39 intergenic rs67755516 OR4C45 AU 0.3719 0.3535 Uncertain 11_48387689_T->C 11 48387689 48387689 T C snp 2296.77 0/1 99 247 155 92 0.37 intergenic rs75371569 OR4C45 AU 0.3712 0.3682 0.38 T 1 N -0.883 T Uncertain 11_48387705_C->T 11 48387705 48387705 C T snp 2587.77 0/1 99 250 146 104 0.42 intergenic rs34926479 OR4C45 AU 0.3569 0.3396 0.01 T 1 N -0.834 T Uncertain 11_48387737_G->C 11 48387737 48387737 G C snp 2772.77 0/1 99 250 135 115 0.46 intergenic rs73460780 OR4C45 AU 0.4737 0.4724 0.06 T 1 N -0.926 T Uncertain 11_48387757_A->C 11 48387757 48387757 A C snp 3006.77 0/1 99 249 130 119 0.48 intergenic rs74557904 OR4C45 AU 0.4815 0.4634 1 T 1.000 N -0.978 T Uncertain 11_48387780_C->T 11 48387780 48387780 C T snp 3224.61 0/1 99 250 127 123 0.49 intergenic rs76329018 OR4C45 AU 0.4798 0.4912 1 T 0.992 N -0.923 T Uncertain 11_48387789_C->G 11 48387789 48387789 C G snp 3173.77 0/1 99 250 126 124 0.5 intergenic rs80222485 OR4C45 AU 0.4823 0.4912 0.07 T 0.001 P -0.923 T Uncertain 11_48387825_T->G 11 48387825 48387825 T G snp 2852.77 0/1 99 250 140 110 0.44 intergenic rs75650204 OR4C45 AU 0.4648 0.4612 1 T 1.000 N -0.946 T Uncertain 11_48387833_T->C 11 48387833 48387833 T C snp 2718.77 0/1 99 250 145 105 0.42 intergenic rs79515387 OR4C45 AU 0.4587 0.4545 1 T 1.000 N -0.995 T Uncertain 11_48387850_G->T 11 48387850 48387850 G T snp 2539.77 0/1 99 250 146 104 0.42 intergenic rs73460781 OR4C45 AU 0.4055 0.4062 1 T 1 D Uncertain 11_48387890_T->C 11 48387890 48387890 T C snp 2659.77 0/1 99 249 141 108 0.43 intergenic rs74623688 OR4C45 AU 0.0878 0.0105 0.16 T 1 N -0.837 T Uncertain 11_48387894_C->T 11 48387894 48387894 C T snp 2596.77 0/1 99 249 145 104 0.42 intergenic rs75065468 OR4C45 AU 0.0845 0.0103 0.01 T 1 N -0.920 T Uncertain 11_48387900_G->A 11 48387900 48387900 G A snp 2702.77 0/1 99 250 142 108 0.43 intergenic rs74338058 OR4C45 AU 0.0826 0.0103 0.02 T 1 D Uncertain 11_48387918_T->- 11 48387918 48387918 T - indel 3138.73 0/1 99 244 145 99 0.41 intergenic rs66829866 OR4C45 AU 0.0744 0.0101 ID=COSM1604623;OCCURENCE=2(liver) Uncertain 11_48387919_G->A 11 48387919 48387919 G A snp 2356.77 0/1 99 238 145 93 0.39 intergenic rs114441034 OR4C45 AU 0.0748 0.0102 Uncertain 11_48387930_T->C 11 48387930 48387930 T C snp 2504.77 0/1 99 242 142 100 0.41 intergenic rs75939575 OR4C45 AU 0.0712 0 1 T 1.000 N -1.010 T Uncertain 11_48387945_-->CA 11 48387945 48387945 - CA indel 3763.73 0/1 99 228 126 102 0.45 intergenic rs139770813 OR4C45 AU 0.0733 0.0051 Uncertain 11_48387946_G->T 11 48387946 48387946 G T snp 2127.77 0/1 99 213 128 85 0.4 intergenic rs114053360 OR4C45 AU 0.0751 0.0051 0.01 T 1 N -0.972 T Uncertain 11_48387960_T->C 11 48387960 48387960 T C snp 2010.77 0/1 99 187 104 83 0.44 intergenic rs79688019 OR4C45 AU 0.0840 0.0052 0.77 T 1 N -0.936 T Uncertain 11_48387978_T->A 11 48387978 48387978 T A snp 1697.77 0/1 99 150 84 66 0.44 intergenic rs78160589 OR4C45 AU 0.1461 0.0611 1 T 1 D Uncertain 11_48387983_T->C 11 48387983 48387983 T C snp 1539.77 0/1 99 140 78 62 0.44 intergenic rs75819836 OR4C45 AU 0.1544 0.0611 0.37 T 1 N -0.931 T Uncertain 11_48388047_T->C 11 48388047 48388047 T C snp 560.77 0/1 99 48 30 18 0.38 intergenic rs75982328 OR4C45 AU 0.3379 0.2831 Uncertain 11_48388049_A->G 11 48388049 48388049 A G snp 487.77 0/1 99 45 29 16 0.36 intergenic rs77697332 OR4C45 AU 0.3254 0.2701 Uncertain 11_48388067_G->A 11 48388067 48388067 G A snp 267.77 0/1 99 30 20 10 0.33 intergenic rs73460782 OR4C45 AU 0.2213 0.1582 Uncertain 11_48388094_-->TT 11 48388094 48388094 - TT indel 188.73 0/1 99 14 7 7 0.5 intergenic rs148627403 OR4C45 AU Uncertain 11_48388105_T->C 11 48388105 48388105 T C snp 113.77 0/1 99 10 6 4 0.4 intergenic rs373593427 OR4C45 AU Uncertain 11_48388108_G->A 11 48388108 48388108 G A snp 119.77 0/1 99 8 4 4 0.5 intergenic rs74747286 OR4C45 AU Uncertain 11_48388115_A->G 11 48388115 48388115 A G snp 107.77 0/1 99 7 3 4 0.57 intergenic rs75854175 OR4C45 AU Uncertain 11_48388132_G->C 11 48388132 48388132 G C snp 41.77 0/1 70 4 2 2 0.5 intergenic rs79080055 OR4C45 AU Uncertain 11_48388487_C->A 11 48388487 48388487 C A snp 56.77 0/1 85 16 13 3 0.19 intergenic rs78414756 OR4C45 AU Uncertain 11_48388524_C->T 11 48388524 48388524 C T snp 352.77 0/1 99 50 37 13 0.26 intergenic rs76789954 OR4C45 AU Uncertain 11_48388526_A->G 11 48388526 48388526 A G snp 349.77 0/1 99 50 37 13 0.26 intergenic rs77473022 OR4C45 AU Uncertain 11_48388542_G->A 11 48388542 48388542 G A snp 646.77 0/1 99 76 54 22 0.29 intergenic rs77282201 OR4C45 AU Uncertain 11_48388544_T->C 11 48388544 48388544 T C snp 675.77 0/1 99 80 56 24 0.3 intergenic rs74346885 OR4C45 AU Uncertain 11_48388553_C->G 11 48388553 48388553 C G snp 1145.77 0/1 99 105 66 39 0.37 intergenic rs80082776 OR4C45 AU Uncertain 11_48388563_C->A 11 48388563 48388563 C A snp 1240.77 0/1 99 119 75 44 0.37 intergenic rs77148147 OR4C45 AU Uncertain 11_48388564_T->G 11 48388564 48388564 T G snp 1241.77 0/1 99 119 75 44 0.37 intergenic rs77730040 OR4C45 AU Uncertain 11_48388567_A->C 11 48388567 48388567 A C snp 1296.77 0/1 99 124 79 45 0.36 intergenic rs79767657 OR4C45 AU Uncertain 11_48388571_C->T 11 48388571 48388571 C T snp 1337.77 0/1 99 131 84 47 0.36 intergenic rs79079495 OR4C45 AU 0.0723 0.0741 Uncertain 11_48388583_A->T 11 48388583 48388583 A T snp 2040.77 0/1 99 182 101 81 0.45 intergenic rs77992774 OR4C45 AU 0.0681 0.0610 Uncertain 11_48388610_T->G 11 48388610 48388610 T G snp 2338.77 0/1 99 250 151 99 0.4 intergenic rs79108820 OR4C45 AU 0.1081 0.1436 Uncertain 11_48388612_T->C 11 48388612 48388612 T C snp 2358.77 0/1 99 250 151 99 0.4 intergenic rs76366705 OR4C45 AU 0.1080 0.1436 Uncertain 11_48388614_T->C 11 48388614 48388614 T C snp 2328.77 0/1 99 250 152 98 0.39 intergenic rs146852809 OR4C45 AU 0.1080 0.1398 Uncertain 11_48388621_A->G 11 48388621 48388621 A G snp 2334.77 0/1 99 250 152 98 0.39 intergenic rs75849499 OR4C45 AU 0.1088 0.1436 0.1 T -0.990 T Uncertain 11_48388622_C->T 11 48388622 48388622 C T snp 2362.77 0/1 99 250 154 96 0.38 intergenic rs77201401 OR4C45 AU 0.1084 0.1398 0.33 T -0.915 T Uncertain 11_48388623_A->C 11 48388623 48388623 A C snp 2182.77 0/1 99 250 153 97 0.39 intergenic rs79086658 OR4C45 AU 0.1087 0.1398 Uncertain 11_48388641_G->A 11 48388641 48388641 G A snp 2859.77 0/1 99 250 135 115 0.46 intergenic rs80267937 OR4C45 AU 0.1083 0.1398 Uncertain 11_48388657_G->A 11 48388657 48388657 G A snp 2847.77 0/1 99 250 141 109 0.44 intergenic rs80000751 OR4C45 AU 0.1163 0.1598 0.39 T -0.985 T Uncertain 11_48388681_G->A 11 48388681 48388681 G A snp 2911.77 0/1 99 250 135 115 0.46 intergenic rs76712816 OR4C45 AU 0.1360 0.1703 Uncertain 11_48388698_C->T 11 48388698 48388698 C T snp 2906.77 0/1 99 246 133 113 0.46 intergenic rs77483743 OR4C45 AU 0.1665 0.2317 Uncertain 11_48388717_T->C 11 48388717 48388717 T C snp 2804.77 0/1 99 237 122 115 0.49 intergenic rs78132200 OR4C45 AU Uncertain 11_48388782_A->G 11 48388782 48388782 A G snp 1689.77 0/1 99 139 74 65 0.47 intergenic rs76039310 OR4C45 AU Uncertain 11_48388833_A->C 11 48388833 48388833 A C snp 507.77 0/1 99 30 15 15 0.5 intergenic rs73460789 OR4C45 AU Uncertain 11_48388859_-->GT 11 48388859 48388859 - GT indel 286.73 0/1 99 17 6 11 0.65 intergenic rs113827611 OR4C45 AU Uncertain 11_48388875_A->T 11 48388875 48388875 A T snp 71.77 0/1 99 8 5 3 0.38 intergenic rs74945950 OR4C45 AU Uncertain 11_48388883_A->T 11 48388883 48388883 A T snp 38.77 0/1 67 5 3 2 0.4 intergenic rs75300955 OR4C45 AU Uncertain 11_48453678_G->A 11 48453678 48453678 G A snp 756.77 0/1 99 48 21 27 0.56 intergenic rs600750 OR4C45 AU 0.271965 0.3968 Uncertain 11_48453944_C->T 11 48453944 48453944 C T snp 106.77 0/1 99 21 15 6 0.29 intergenic OR4C45 AU Uncertain 11_48997107_G->A 11 48997107 48997107 G A snp 1450.77 0/1 99 131 72 59 0.45 intergenic rs2047941 OR4A47 AU 0.272564 0.4028 0.2319 0.3722 Uncertain 11_48997334_T->G 11 48997334 48997334 T G snp 1970.77 0/1 99 153 75 78 0.51 intergenic rs1987879 OR4A47 AU 0.272564 0.4028 0.2327 0.3718 Uncertain 11_48997592_C->T 11 48997592 48997592 C T snp 392.77 1/1 30 12 0 12 1.0 intergenic rs1813231 OR4A47 AU 0.98103 1 0.9952 1 Uncertain 11_48998688_A->G 11 48998688 48998688 A G snp 1470.77 0/1 99 120 56 64 0.53 intergenic rs7113308 OR4A47 AU 0.196286 0.1667 0.1957 0.1722 Uncertain 11_48999527_G->C 11 48999527 48999527 G C snp 46.77 0/1 33 4 2 2 0.5 intergenic rs1505217 OR4A47 AU Uncertain 11_48999833_G->A 11 48999833 48999833 G A snp 478.77 0/1 99 38 19 19 0.5 intergenic rs12576844 OR4A47 AU 0.271965 0.4018 Uncertain 11_49000423_C->G 11 49000423 49000423 C G snp 546.77 0/1 99 28 11 17 0.61 intergenic rs1965370 OR4A47 AU 0.708466 0.5972 0.7650 0.6283 Uncertain 11_49000522_C->T 11 49000522 49000522 C T snp 1779.77 0/1 99 143 67 76 0.53 intergenic rs1963629 OR4A47 AU 0.708466 0.5972 0.7644 0.6265 Uncertain 11_49000558_G->A 11 49000558 49000558 G A snp 1739.77 0/1 99 171 90 81 0.47 intergenic rs11040198 OR4A47 AU 0.272564 0.4028 0.2338 0.3752 Uncertain 11_49002307_T->C 11 49002307 49002307 T C snp 137.77 0/1 99 13 8 5 0.38 intergenic rs3862340 OR4A47 AU 0.272564 0.4028 Uncertain 11_49002343_T->G 11 49002343 49002343 T G snp 388.77 0/1 99 33 18 15 0.45 intergenic rs9783302 OR4A47 AU 0.708466 0.5972 Uncertain 11_49056628_T->- 11 49056628 49056628 T - indel 392.73 0/1 99 42 19 23 0.55 intronic rs144534447 TRIM49B AU NM_001206626 exon4 c.3495-18delT 0.288339 0.2887 0.2485 0.2651 Uncertain 11_49058871_C->T 11 49058871 49058871 C T snp 155.77 0/1 99 9 4 5 0.56 intronic rs2696915 TRIM49B AU NM_001206626 exon6 c.5878-158C>T 0.714457 0.6022 Uncertain 11_49059362_C->A 11 49059362 49059362 C A snp 2122.77 0/1 99 196 105 91 0.46 exonic rs2696914 TRIM49B AU nonsynonymous SNV NM_001206626 exon6 c.C1192A p.L398M 0.723043 0.6022 0.7686 0.6297 0.16 T 0.0 P -0.903 T Pathogenic 11_49075605_G->A 11 49075605 49075605 G A snp 1332.77 0/1 99 107 54 53 0.5 exonic rs2851535 TRIM64C AU synonymous SNV NM_001206631 exon6 c.C1014T p.S338S 0.714657 0.6032 0.7149 0.5514 Uncertain 11_49076898_T->G 11 49076898 49076898 T G snp 460.77 0/1 99 33 12 21 0.64 exonic rs7932199 TRIM64C AU nonsynonymous SNV NM_001206631 exon5 c.A823C p.I275L 0.176318 0.1607 0.1413 0.125 0.29 T 0.0 P -0.906 T Pathogenic 11_49076963_-->AA 11 49076963 49076963 - AA indel 832.73 0/1 99 60 25 35 0.58 splicing rs34650085 TRIM64C AU NM_001206631 exon2 c.1694+4insAA 0.5048 0.4792 Pathogenic 11_49077890_T->- 11 49077890 49077890 T - indel 2212.73 0/1 99 134 49 85 0.63 intronic rs36015501 TRIM64C AU NM_001206631 exon3 c.2645-20delT 0.713458 0.6022 0.7068 0.5373 Uncertain 11_49080565_A->C 11 49080565 49080565 A C snp 539.77 0/1 99 73 46 27 0.37 exonic rs7932738 TRIM64C AU nonsynonymous SNV NM_001206631 exon1 c.T100G p.F34V 0.180511 0.1607 0.1603 0.1685 0.02 T 0.003 P -1.038 T Pathogenic 11_49145048_T->G 11 49145048 49145048 T G snp 625.77 1/1 48 23 0 23 1.0 intergenic rs6485962 TRIM64C AU 0.571286 0.5377 Uncertain 11_49145838_C->T 11 49145838 49145838 C T snp 4097.77 1/1 99 152 0 152 1.0 intergenic rs7933115 TRIM64C AU 0.568091 0.5317 Uncertain 11_49168300_G->A 11 49168300 49168300 G A snp 1484.77 0/1 99 130 72 58 0.45 UTR3 rs595139 FOLH1 AU 0.172724 0.1577 0.177566 0.1508 0.1619 Uncertain 11_49168612_T->C 11 49168612 49168612 T C snp 343.77 0/1 99 35 22 13 0.37 intronic rs598841 FOLH1 AU NM_004476 exon1 c.190+115T>C 0.172724 0.1577 Uncertain 11_49170334_T->C 11 49170334 49170334 T C snp 2011.77 1/1 99 69 0 69 1.0 intronic rs202694 FOLH1 AU NM_004476 exon2 c.1976+51T>C 0.904553 0.8958 0.883822 0.9039 0.8919 Uncertain 11_49176057_C->T 11 49176057 49176057 C T snp 389.77 0/1 99 94 63 31 0.33 intronic rs2988340 FOLH1 AU NM_004476 exon4 c.7737+13C>T 0.509385 0.5794 0.5982 0.5527 Uncertain 11_49192667_C->T 11 49192667 49192667 C T snp 73.77 0/1 99 12 8 4 0.33 intronic rs10839236 FOLH1 AU NM_004476 exon9 c.24439-79C>T 0.460663 0.5843 Uncertain 11_49192690_T->C 11 49192690 49192690 T C snp 364.77 0/1 99 22 6 16 0.73 intronic rs202719 FOLH1 AU NM_004476 exon9 c.24439-56T>C 0.177316 0.1617 0.179369 Uncertain 11_49192906_A->- 11 49192906 49192906 A - indel 77.76 0/1 22 16 3 13 0.81 intronic rs34828796 FOLH1 AU NM_004476 exon9 c.24522+77delA 0.485024 0.5149 Uncertain 11_49194894_G->A 11 49194894 49194894 G A snp 770.77 0/1 99 60 28 32 0.53 intronic rs175849 FOLH1 AU NM_004476 exon10 c.26601-14G>A 0.396965 0.3165 0.335719 0.2845 0.3137 Uncertain 11_49195090_T->C 11 49195090 49195090 T C snp 1665.77 1/1 99 58 0 58 1.0 intronic rs202718 FOLH1 AU NM_004476 exon10 c.26721+62T>C 0.906949 0.9018 Uncertain 11_49196332_C->T 11 49196332 49196332 C T snp 152.77 0/1 99 19 10 9 0.47 intronic rs4929893 FOLH1 AU NM_004476 exon11 c.28136-111C>T 0.479433 0.5833 Uncertain 11_49196333_G->C 11 49196333 49196333 G C snp 233.77 0/1 99 19 10 9 0.47 intronic rs4929894 FOLH1 AU NM_004476 exon11 c.28136-110G>C 0.453674 0.5764 Uncertain 11_49196490_T->C 11 49196490 49196490 T C snp 1027.77 0/1 99 88 44 44 0.5 exonic rs202716 FOLH1 AU synonymous SNV NM_004476 exon9 c.A1059G p.T353T 0.418331 0.3175 0.3138 0.2979 Uncertain 11_49196652_C->T 11 49196652 49196652 C T snp 301.78 1/1 24 8 0 8 1.0 intronic rs202715 FOLH1 AU NM_004476 exon11 c.28222+123C>T 0.90615 0.9018 Uncertain 11_49207315_A->G 11 49207315 49207315 A G snp 483.77 0/1 99 82 41 41 0.5 exonic rs182169 FOLH1 AU synonymous SNV NM_004476 exon6 c.T732C p.D244D 0.406749 0.3175 0.312981 0.3058 0.2932 Uncertain 11_49208169_-->A 11 49208169 49208169 - A indel 829.73 0/1 99 88 52 36 0.41 intronic FOLH1 AU NM_004476 exon15 c.39888-26insA Uncertain 11_49214499_G->A 11 49214499 49214499 G A snp 108.77 0/1 99 11 7 4 0.36 intronic rs4315497 FOLH1 AU NM_004476 exon16 c.46139+53G>A 0.526558 0.4157 Uncertain 11_49221885_T->A 11 49221885 49221885 T A snp 1447.77 0/1 99 167 98 69 0.41 exonic rs202680 FOLH1 AU synonymous SNV NM_004476 exon3 c.A333T p.A111A 0.414936 0.3165 0.358319 0.3302 0.3135 Uncertain 11_49227620_A->G 11 49227620 49227620 A G snp 1042.77 0/1 99 119 74 45 0.38 exonic rs202676 FOLH1 AU nonsynonymous SNV NM_004476 exon2 c.T223C p.Y75H 0.386382 0.3155 0.325658 0.2822 0.3137 0.15 T 1.000 P -0.941 T 0.007 T 0.019 T Pathogenic 11_49312058_G->A 11 49312058 49312058 G A snp 296.77 0/1 99 21 11 10 0.48 intergenic rs10769571 FOLH1 AU 0.18111 0.1548 Uncertain 11_49329552_G->A 11 49329552 49329552 G A snp 2936.77 0/1 99 246 124 122 0.5 intergenic rs1164670 FOLH1 AU 0.872005 0.7113 Uncertain 11_49372872_G->A 11 49372872 49372872 G A snp 2193.77 0/1 99 156 63 93 0.6 intergenic rs3915110 FOLH1 AU 0.730431 0.7232 Uncertain 11_49400965_T->C 11 49400965 49400965 T C snp 1667.77 0/1 99 119 52 67 0.56 intergenic rs3974576 FOLH1 AU 0.721046 0.7222 Uncertain 11_49401125_T->G 11 49401125 49401125 T G snp 473.77 0/1 99 32 16 16 0.5 intergenic rs7102702 FOLH1 AU 0.696885 0.7212 Uncertain 11_49597799_C->T 11 49597799 49597799 C T snp 4760.77 1/1 99 169 0 169 1.0 ncRNA_exonic rs7131345 LOC440040 AU 0.996805 1 Uncertain 11_49598178_G->A 11 49598178 49598178 G A snp 3240.77 0/1 99 245 115 130 0.53 ncRNA_exonic rs7101761 LOC440040 AU 0.721446 0.7143 0.7361 0.6908 Uncertain 11_49598207_T->C 11 49598207 49598207 T C snp 2994.77 0/1 99 237 117 120 0.51 ncRNA_exonic rs3750925 LOC440040 AU 0.445887 0.5526 0.5335 0.5257 Uncertain 11_49598209_T->C 11 49598209 49598209 T C snp 6863.77 1/1 99 238 0 238 1.0 ncRNA_exonic rs7939515 LOC440040 AU 0.907149 0.9058 0.8904 0.8990 Uncertain 11_49637416_A->G 11 49637416 49637416 A G snp 498.77 1/1 39 17 0 17 1.0 ncRNA_intronic rs7125677 LOC440040 AU 0.907548 0.9157 Uncertain 11_49729155_G->A 11 49729155 49729155 G A snp 324.77 0/1 99 31 20 11 0.35 ncRNA_intronic rs7934809 LOC440040 AU 0.221046 0.1944 Uncertain 11_49729300_C->- 11 49729300 49729300 C - indel 1984.73 0/1 99 146 78 68 0.47 ncRNA_intronic rs398045197 LOC440040 AU 0.447085 0.5556 Uncertain 11_49813442_A->G 11 49813442 49813442 A G snp 220.84 1/1 18 6 0 6 1.0 ncRNA_intronic rs7943083 LOC440040 AU 0.996605 1 Uncertain 11_49813637_A->G 11 49813637 49813637 A G snp 227.8 1/1 21 16 0 16 1.0 ncRNA_intronic rs11530434 LOC440040 AU 0.8111 0.8193 Uncertain 11_49829194_T->- 11 49829194 49829194 T - indel 2883.73 0/1 99 216 97 119 0.55 ncRNA_intronic rs35198519 LOC440040 AU 0.491613 0.5565 0.5855 0.5605 Uncertain 11_49973979_C->T 11 49973979 49973979 C T snp 1525.77 0/1 99 104 49 55 0.53 exonic OR4C13 AU nonsynonymous SNV NM_001001955 exon1 c.C5T p.A2V 0.0820687 0.2421 0.036940 0.0628 0.2076 0.0 P -0.910 T 0.049 T 0.03 T Pathogenic 11_49974371_G->A 11 49974371 49974371 G A snp 6263.77 1/1 99 209 0 209 1.0 exonic OR4C13 AU nonsynonymous SNV NM_001001955 exon1 c.G397A p.V133I 0.997404 1 0.997306 0.9993 1 0.0 P -1.011 T 0.0 T 0.0 T Pathogenic 11_50003191_C->A 11 50003191 50003191 C A snp 1060.77 0/1 99 115 65 50 0.43 exonic OR4C12 AU nonsynonymous SNV NM_001005270 exon1 c.G847T p.V283L 0.492212 0.5565 0.515853 0.5805 0.5290 1 T 0.000 P -0.925 T 0.0 T 0.0 T Pathogenic 11_51516000_C->T 11 51516000 51516000 C T snp 1708.77 0/1 99 156 85 71 0.46 exonic rs11246607 OR4C46 AU nonsynonymous SNV NM_001004703 exon1 c.C719T p.S240F 0.433307 0.5427 0.449207 0.5183 0.5171 0.01 T 0.083 P -0.903 T 0.884 T 0.68 P Pathogenic 11_51516036_G->A 11 51516036 51516036 G A snp 907.77 0/1 99 103 61 42 0.41 exonic rs11246608 OR4C46 AU nonsynonymous SNV NM_001004703 exon1 c.G755A p.C252Y 0.4375 0.5427 0.453979 0.5197 0.5171 0 D 0.0 P -1.113 T 1.0 D 0.991 D Pathogenic 11_51516144_A->G 11 51516144 51516144 A G snp 779.77 0/1 99 151 100 51 0.34 exonic rs11246609 OR4C46 AU nonsynonymous SNV NM_001004703 exon1 c.A863G p.K288R 0.698083 0.7698 0.7030 0.7454 1 T 0.000 P -0.953 T 0.0 T 0.0 T Pathogenic 11_55111238_C->A 11 55111238 55111238 C A snp 929.77 0/1 99 79 38 41 0.52 exonic rs11229158 OR4A16 AU nonsynonymous SNV NM_001005274 exon1 c.C562A p.L188I 0.414537 0.5387 0.400108 0.4821 0.5209 0.08 T 0.0 P -0.995 T 0.0 T 0.0 T Pathogenic 11_55111584_A->T 11 55111584 55111584 A T snp 734.77 0/1 99 69 38 31 0.45 exonic rs10896659 OR4A16 AU nonsynonymous SNV NM_001005274 exon1 c.A908T p.K303M 0.41254 0.5387 0.399400 0.4829 0.5224 0.09 T 0.0 P -0.952 T 0.082 T 0.04 T Pathogenic 11_55135435_C->T 11 55135435 55135435 C T snp 1143.77 0/1 99 76 31 45 0.59 exonic rs1425193 OR4A15 AU nonsynonymous SNV NM_001005275 exon1 c.C76T p.P26S 0.227436 0.3869 0.196706 0.2727 0.3811 0.85 T 0.0 P -0.949 T 0.0 T 0.001 T Pathogenic 11_55136125_C->T 11 55136125 55136125 C T snp 2399.77 0/1 99 214 107 107 0.5 exonic rs117954374 OR4A15 AU stopgain NM_001005275 exon1 c.C766T p.Q256X 0.0119808 0.0585 0.000308 0.0045 0.0566 0.02 T 1 D Pathogenic 11_55322211_A->G 11 55322211 55322211 A G snp 1934.77 0/1 99 162 84 78 0.48 exonic rs9804659 OR4C15 AU synonymous SNV NM_001001920 exon1 c.A429G p.K143K 0.252596 0.3919 0.219255 0.2793 0.3810 Uncertain 11_55339652_C->T 11 55339652 55339652 C T snp 3248.77 0/1 99 250 111 139 0.56 exonic rs1459101 OR4C16 AU stopgain NM_001004701 exon1 c.C49T p.Q17X 0.252596 0.3909 0.219409 0.2804 0.3787 0.02 T 1.0 P Pathogenic 11_55339798_C->T 11 55339798 55339798 C T snp 3614.77 0/1 99 250 116 134 0.54 exonic rs557667 OR4C16 AU synonymous SNV NM_001004701 exon1 c.C195T p.S65S 0.257188 0.3909 0.223950 0.2805 0.3785 Uncertain 11_55339829_A->G 11 55339829 55339829 A G snp 8153.77 1/1 99 250 1 249 1.0 exonic rs557590 OR4C16 AU nonsynonymous SNV NM_001004701 exon1 c.A226G p.T76A 0.891374 1 0.836771 0.9019 0.9993 1 T 0.0 P -0.968 T 0.0 T 0.0 T Pathogenic 11_55340379_T->C 11 55340379 55340379 T C snp 3292.77 0/1 99 250 119 131 0.52 exonic rs559449 OR4C16 AU nonsynonymous SNV NM_001004701 exon1 c.T776C p.L259P 0.478834 0.5446 0.481530 0.5375 0.5197 1 T 0.188 P -1.012 T 0.0 T 0.0 T Pathogenic 11_55433040_T->C 11 55433040 55433040 T C snp 1456.77 0/1 99 104 51 53 0.51 exonic rs11230600 OR4C6 AU nonsynonymous SNV NM_001004704 exon1 c.T398C p.I133T 0.252995 0.3909 0.219982 0.2792 0.3796 0.04 T 0.003 P -0.964 T 0.042 T 0.081 T Pathogenic 11_55541098_G->A 11 55541098 55541098 G A snp 7808.77 1/1 99 250 1 249 1.0 exonic rs297118 OR5D13 AU nonsynonymous SNV NM_001001967 exon1 c.G185A p.C62Y 0.971246 1 0.971290 0.9918 1 1 T 0.000 P -1.014 T 0.0 T 0.0 T Pathogenic 11_55541284_G->A 11 55541284 55541284 G A snp 3074.77 0/1 99 250 127 123 0.49 exonic rs11230983 OR5D13 AU nonsynonymous SNV NM_001001967 exon1 c.G371A p.R124H 0.102636 0.1448 0.097137 0.1161 0.1554 0.03 T 0.000 P -0.870 T 0.016 T 0.017 T Pathogenic 11_55563776_T->G 11 55563776 55563776 T G snp 6289.77 1/1 99 218 0 218 1.0 exonic rs297054 OR5D14 AU nonsynonymous SNV NM_001004735 exon1 c.T745G p.S249A 0.970647 1 0.971213 0.9919 1 1 T 0.0 P -0.999 T 0.0 T 0.0 T Pathogenic 11_55563900_T->C 11 55563900 55563900 T C snp 2140.77 0/1 99 197 107 90 0.46 exonic rs297055 OR5D14 AU nonsynonymous SNV NM_001004735 exon1 c.T869C p.L290P 0.216853 0.1458 0.278479 0.2322 0.1579 0 D 0.002 P -1.022 T 0.925 T 0.491 D Pathogenic 11_55587117_T->A 11 55587117 55587117 T A snp 2877.77 1/1 99 96 0 96 1.0 exonic rs297082 OR5D18 AU synonymous SNV NM_001001952 exon1 c.T12A p.T4T 0.996605 1 0.996536 0.9989 1 Uncertain 11_55587457_G->A 11 55587457 55587457 G A snp 2574.77 0/1 99 250 144 106 0.42 exonic rs11231180 OR5D18 AU nonsynonymous SNV NM_001001952 exon1 c.G352A p.V118M 0.0157748 0.0754 0.0059 0.0783 0.1 T 1.000 N -1.097 T 0.75 T 0.365 P ID=COSM147209;OCCURENCE=1(stomach) Pathogenic 11_55587511_A->G 11 55587511 55587511 A G snp 7052.77 1/1 99 249 0 249 1.0 exonic rs297081 OR5D18 AU nonsynonymous SNV NM_001001952 exon1 c.A406G p.N136D 0.996605 1 0.996536 0.9989 1 0.06 T 0.0 P -1.059 T 0.008 T 0.002 T Pathogenic 11_55587914_A->G 11 55587914 55587914 A G snp 1569.77 0/1 99 108 47 61 0.56 exonic rs55832853 OR5D18 AU nonsynonymous SNV NM_001001952 exon1 c.A809G p.H270R 0.233027 0.3889 0.204433 0.2810 0.3839 0.03 T 0.0 P -1.012 T 0.004 T 0.021 T Pathogenic 11_55606302_G->T 11 55606302 55606302 G T snp 4292.77 1/1 99 161 0 161 1.0 exonic rs6591699 OR5D16 AU synonymous SNV NM_001005496 exon1 c.G75T p.L25L 0.673123 0.7718 0.629290 0.6567 0.7860 Uncertain 11_55606818_C->T 11 55606818 55606818 C T snp 3402.77 0/1 99 250 126 124 0.5 exonic rs11231253 OR5D16 AU synonymous SNV NM_001005496 exon1 c.C591T p.S197S 0.453075 0.626 0.347545 0.4243 0.6276 Uncertain 11_55656483_T->A 11 55656483 55656483 T A snp 1911.77 1/1 99 80 2 78 0.97 splicing rs7483200 TRIM51 AU NM_032681 exon5 c.3573+6T>A 0.829673 0.9087 0.803063 0.8100 0.8895 Pathogenic 11_55681494_G->A 11 55681494 55681494 G A snp 4198.77 1/1 99 145 0 145 1.0 exonic rs2457239 OR5W2 AU nonsynonymous SNV NM_001001960 exon1 c.C565T p.R189C 0.999002 1 0.999384 0.9998 1 1 T 0.000 P -0.925 T 0.0 T 0.0 T Pathogenic 11_55681865_T->C 11 55681865 55681865 T C snp 1077.77 0/1 99 85 43 42 0.49 exonic rs12419022 OR5W2 AU nonsynonymous SNV NM_001001960 exon1 c.A194G p.H65R 0.102236 0.1448 0.097199 0.1168 0.1554 0.02 T 0.848 P -1.099 T 0.007 T 0.021 T Pathogenic 11_55682111_T->G 11 55682111 55682111 T G snp 560.77 1/1 42 18 0 18 1.0 upstream rs2940752 OR5W2 AU 0.996805 1 Uncertain 11_55746891_G->A 11 55746891 55746891 G A snp 1530.77 1/1 99 60 0 60 1.0 ncRNA_exonic rs7481466 OR7E5P AU 0.972843 1 0.9913 1 Uncertain 11_55761221_C->T 11 55761221 55761221 C T snp 1826.77 1/1 99 65 0 65 1.0 exonic rs2449134 OR5F1 AU nonsynonymous SNV NM_003697 exon1 c.G881A p.S294N 0.972843 1 0.972834 0.9925 1 1 T 0.0 P -0.995 T 0.0 T 0.0 T Pathogenic 11_55761738_T->G 11 55761738 55761738 T G snp 2598.77 1/1 99 77 0 77 1.0 exonic rs2128152 OR5F1 AU synonymous SNV NM_003697 exon1 c.A364C p.R122R 0.998403 1 0.997768 0.9994 1 Uncertain 11_55798152_G->A 11 55798152 55798152 G A snp 7207.77 1/1 99 250 0 250 1.0 exonic rs1482011 OR5AS1 AU synonymous SNV NM_001001921 exon1 c.G258A p.L86L 0.971446 1 0.971448 0.9919 1 Uncertain 11_55798259_G->T 11 55798259 55798259 G T snp 2702.77 0/1 99 216 115 101 0.47 exonic rs12224086 OR5AS1 AU nonsynonymous SNV NM_001001921 exon1 c.G365T p.R122L 0.103634 0.1458 0.096660 0.1179 0.1561 0.01 T 0.691 P -0.814 T 0.9 T 0.484 P Pathogenic 11_55860780_G->A 11 55860780 55860780 G A snp 5803.77 1/1 99 214 0 214 1.0 upstream rs1842700 OR8I2 AU 0.977835 1 0.977913 0.9935 1 Uncertain 11_55872657_A->C 11 55872657 55872657 A C snp 2092.77 0/1 99 250 156 94 0.38 exonic rs28681529 OR8H2 AU nonsynonymous SNV NM_001005200 exon1 c.A139C p.I47L 0.190296 0.2351 0.179418 0.1942 0.2430 0.03 T 0.000 P -0.918 T 0.012 T 0.012 T Pathogenic 11_55872876_C->T 11 55872876 55872876 C T snp 8199.77 1/1 99 250 0 250 1.0 exonic rs2512961 OR8H2 AU nonsynonymous SNV NM_001005200 exon1 c.C358T p.H120Y 0.959465 0.999 0.936952 0.9341 1 1 T 0.000 P -1.029 T 0.0 T 0.0 T Pathogenic 11_55873024_A->G 11 55873024 55873024 A G snp 8348.77 1/1 99 250 0 250 1.0 exonic rs2449148 OR8H2 AU nonsynonymous SNV NM_001005200 exon1 c.A506G p.Y169C 0.998403 1 0.997845 0.9994 1 1 T 0.000 P -0.976 T 0.0 T 0.0 T Pathogenic 11_55873334_A->G 11 55873334 55873334 A G snp 1819.77 0/1 99 184 98 86 0.47 exonic rs11227212 OR8H2 AU synonymous SNV NM_001005200 exon1 c.A816G p.Q272Q 0.102636 0.1429 0.095135 0.1161 0.1557 Uncertain 11_55873368_G->A 11 55873368 55873368 G A snp 4943.77 1/1 99 177 1 176 0.99 exonic rs1842696 OR8H2 AU nonsynonymous SNV NM_001005200 exon1 c.G850A p.V284M 0.998403 1 0.997844 0.9994 1 1 T 0.000 P -0.976 T 0.0 T 0.0 T Pathogenic 11_55873475_C->T 11 55873475 55873475 C T snp 1148.77 0/1 99 99 53 46 0.46 downstream rs2170447 OR8H2 AU 0.221845 0.378 0.193422 0.2728 0.3719 Uncertain 11_55889790_G->T 11 55889790 55889790 G T snp 1913.77 1/1 99 63 0 63 1.0 upstream rs2035408 OR8H3 AU 0.977236 1 Uncertain 11_55889895_C->T 11 55889895 55889895 C T snp 2862.77 0/1 99 234 113 121 0.52 exonic rs61751933 OR8H3 AU nonsynonymous SNV NM_001005201 exon1 c.C47T p.T16M 0.103834 0.1429 0.096429 0.1165 0.1558 0.2 T 0.0 P -1.063 T 0.0 T 0.0 T Pathogenic 11_55890257_C->T 11 55890257 55890257 C T snp 8358.77 1/1 99 250 0 250 1.0 exonic rs1842691 OR8H3 AU nonsynonymous SNV NM_001005201 exon1 c.C409T p.P137S 0.998403 1 0.997844 0.9994 1 1 T 0.0 P -1.013 T 0.0 T 0.0 T Pathogenic 11_55904382_A->C 11 55904382 55904382 A C snp 2738.77 0/1 99 250 129 121 0.48 exonic rs17150102 OR8J3 AU nonsynonymous SNV NM_001004064 exon1 c.T813G p.D271E 0.103435 0.1438 0.095967 0.1161 0.1558 0.13 T 0.0 P -0.837 T 0.997 D 0.983 D Pathogenic 11_55904828_A->G 11 55904828 55904828 A G snp 1537.77 0/1 99 142 78 64 0.45 exonic rs11227321 OR8J3 AU nonsynonymous SNV NM_001004064 exon1 c.T367C p.Y123H 0.103235 0.1429 0.095967 0.1160 0.1557 0.11 T 0.814 P -0.962 T 0.443 T 0.325 T Pathogenic 11_55905078_C->T 11 55905078 55905078 C T snp 2435.77 0/1 99 174 79 95 0.55 exonic rs61742348 OR8J3 AU nonsynonymous SNV NM_001004064 exon1 c.G117A p.M39I 0.103235 0.1429 0.095890 0.1159 0.1554 0.04 T 0.0 P -0.962 T 0.0 T 0.0 T Pathogenic 11_55944048_G->C 11 55944048 55944048 G C snp 773.77 1/1 57 22 0 22 1.0 upstream rs10896103 OR5J2 AU 0.766374 0.8363 0.681481 0.7106 0.8529 Uncertain 11_55944474_G->A 11 55944474 55944474 G A snp 2738.77 0/1 99 211 101 110 0.52 exonic rs4489763 OR5J2 AU synonymous SNV NM_001005492 exon1 c.G381A p.V127V 0.0986422 0.125 0.095275 0.1142 0.1449 Uncertain 11_55945251_G->T 11 55945251 55945251 G T snp 48.74 1/1 6 2 0 2 1.0 downstream rs11227434 OR5J2 AU 0.0986422 0.124 Uncertain 11_55999950_G->C 11 55999950 55999950 G C snp 3718.77 0/1 99 250 116 134 0.54 exonic OR5T2 AU nonsynonymous SNV NM_001004746 exon1 c.C712G p.L238V 0.101238 0.125 0.098122 0.1158 0.1448 0.18 T 0.0 P -1.027 T 0.267 T 0.26 T Pathogenic 11_56000403_C->G 11 56000403 56000403 C G snp 5935.77 1/1 99 212 0 212 1.0 exonic OR5T2 AU nonsynonymous SNV NM_001004746 exon1 c.G259C p.V87L 0.90655 1 0.847160 0.8999 0.9994 1 T 0.0 P -1.032 T 0.0 T 0.0 T Pathogenic 11_56000451_G->A 11 56000451 56000451 G A snp 2446.77 0/1 99 221 118 103 0.47 exonic OR5T2 AU synonymous SNV NM_001004746 exon1 c.C211T p.L71L 0.102037 0.125 0.098122 0.1155 0.1446 Uncertain 11_56000471_G->A 11 56000471 56000471 G A snp 2503.77 0/1 99 234 132 102 0.44 exonic OR5T2 AU nonsynonymous SNV NM_001004746 exon1 c.C191T p.T64I 0.172724 0.124 0.192396 0.1908 0.1446 0.93 T 0.0 P -1.175 T 0.0 T 0.001 T Pathogenic 11_56000600_G->T 11 56000600 56000600 G T snp 2876.77 0/1 99 236 120 116 0.49 exonic OR5T2 AU nonsynonymous SNV NM_001004746 exon1 c.C62A p.S21Y 0.209665 0.378 0.168231 0.2464 0.3719 0 D 0.0 P -0.960 T 0.031 T 0.002 T Pathogenic 11_56015479_A->G 11 56015479 56015479 A G snp 574.77 0/1 99 44 18 26 0.59 intergenic OR5T2 AU 0.568091 0.7113 Uncertain 11_56015561_T->C 11 56015561 56015561 T C snp 83.77 0/1 69 5 2 3 0.6 intergenic OR5T2 AU 0.000798722 0.004 Uncertain 11_56043604_A->G 11 56043604 56043604 A G snp 4305.77 0/1 99 250 106 144 0.58 exonic OR5T1 AU nonsynonymous SNV NM_001004745 exon1 c.A490G p.S164G 0.441294 0.6478 0.313760 0.4323 0.6475 1 T 0.0 P -0.954 T 0.0 T 0.0 T Pathogenic 11_56043702_G->C 11 56043702 56043702 G C snp 8412.77 1/1 99 250 0 250 1.0 exonic OR5T1 AU synonymous SNV NM_001004745 exon1 c.G588C p.L196L 0.765775 0.8343 0.679698 0.7123 0.8521 Uncertain 11_56057419_A->G 11 56057419 56057419 A G snp 282.77 0/1 99 33 22 11 0.33 downstream OR8H1 AU 0.440096 0.6478 Uncertain 11_56058197_G->A 11 56058197 56058197 G A snp 2683.77 0/1 99 250 136 114 0.46 exonic OR8H1 AU synonymous SNV NM_001005199 exon1 c.C342T p.L114L 0.429313 0.6151 0.318301 0.4231 0.6182 Uncertain 11_56086147_T->G 11 56086147 56086147 T G snp 5535.77 1/1 99 208 1 207 1.0 exonic OR8K3 AU nonsynonymous SNV NM_001005202 exon1 c.T365G p.L122R 0.785543 0.8651 0.681622 0.7218 0.8790 1 T 0.000 P -1.013 T 0.0 T 0.0 T ID=CM035855;DIS=Olfactory receptor deficiency;TAG=FP;PUB=12730696 FP Pathogenic 11_56113516_T->C 11 56113516 56113516 T C snp 3515.77 1/1 99 114 0 114 1.0 exonic OR8K1 AU nonsynonymous SNV NM_001002907 exon1 c.T2C p.M1T 0.779952 0.8631 0.679006 0.7243 0.8781 0 D 1.000 P -0.931 T 0.009 T 0.006 T Pathogenic 11_56113575_A->G 11 56113575 56113575 A G snp 2072.77 0/1 99 199 108 91 0.46 exonic OR8K1 AU nonsynonymous SNV NM_001002907 exon1 c.A61G p.M21V 0.460863 0.6438 0.331230 0.4371 0.6468 0.64 T 0.0 P -1.088 T 0.006 T 0.006 T Pathogenic 11_56113593_C->A 11 56113593 56113593 C A snp 2579.77 0/1 99 224 123 101 0.45 exonic OR8K1 AU nonsynonymous SNV NM_001002907 exon1 c.C79A p.P27T 0.455671 0.6438 0.329845 0.4360 0.6464 0.02 T 0.0 P -1.097 T 0.224 T 0.089 T Pathogenic 11_56127746_A->G 11 56127746 56127746 A G snp 945.77 0/1 99 86 50 36 0.42 exonic OR8J1 AU synonymous SNV NM_001005205 exon1 c.A24G p.R8R 0.898363 0.875 0.900770 0.8855 0.8512 Uncertain 11_56128524_C->T 11 56128524 56128524 C T snp 3095.77 0/1 99 248 125 123 0.5 exonic OR8J1 AU synonymous SNV NM_001005205 exon1 c.C802T p.L268L 0.898363 0.875 0.901108 0.8853 0.8511 Uncertain 11_56143125_C->T 11 56143125 56143125 C T snp 529.77 0/1 99 179 151 28 0.16 exonic rs74467122 OR8U1 AU nonsynonymous SNV NM_001005204 exon1 c.C26T p.A9V 0.1126 0.1210 1 T 1 N -0.998 T 0.0 T 0.0 T Pathogenic 11_56143156_C->T 11 56143156 56143156 C T snp 2743.77 0/1 99 203 88 115 0.57 exonic rs11228165 OR8U1 AU synonymous SNV NM_001005204 exon1 c.C57T p.D19D 0.455671 0.6438 0.5309 0.6715 Uncertain 11_56143158_A->G 11 56143158 56143158 A G snp 2863.77 0/1 99 206 85 121 0.59 exonic rs11228166 OR8U1 AU nonsynonymous SNV NM_001005204 exon1 c.A59G p.H20R 0.455671 0.6438 0.5301 0.6728 1 T 0.0 P -0.903 T 0.0 T 0.0 T Pathogenic 11_56143198_C->T 11 56143198 56143198 C T snp 1134.77 0/1 99 242 183 59 0.24 exonic rs80034856 OR8U1 AU synonymous SNV NM_001005204 exon1 c.C99T p.S33S 0.2447 0.2511 Uncertain 11_56143204_C->T 11 56143204 56143204 C T snp 1076.77 0/1 99 246 188 58 0.24 exonic rs79445223 OR8U1 AU synonymous SNV NM_001005204 exon1 c.C105T p.Y35Y 0.2244 0.2292 Uncertain 11_56143207_C->T 11 56143207 56143207 C T snp 1066.77 0/1 99 247 188 59 0.24 exonic rs75547926 OR8U1 AU synonymous SNV NM_001005204 exon1 c.C108T p.L36L 0.2248 0.2299 Uncertain 11_56143216_G->A 11 56143216 56143216 G A snp 1107.77 0/1 99 250 187 63 0.25 exonic rs76044076 OR8U1 AU synonymous SNV NM_001005204 exon1 c.G117A p.V39V 0.2250 0.2297 Uncertain 11_56143225_C->T 11 56143225 56143225 C T snp 1028.77 0/1 99 243 185 58 0.24 exonic rs77854836 OR8U1 AU synonymous SNV NM_001005204 exon1 c.C126T p.N42N 0.2302 0.2353 Uncertain 11_56143226_T->C 11 56143226 56143226 T C snp 1059.77 0/1 99 243 183 60 0.25 exonic rs78590139 OR8U1 AU synonymous SNV NM_001005204 exon1 c.T127C p.L43L 0.2415 0.2495 Uncertain 11_56143250_G->A 11 56143250 56143250 G A snp 1002.77 0/1 99 239 192 47 0.2 exonic rs76390346 OR8U1 AU nonsynonymous SNV NM_001005204 exon1 c.G151A p.A51T 0.2070 0.2205 0.3 T 1 N -0.907 T 0.0 T 0.0 T Pathogenic 11_56143252_G->A 11 56143252 56143252 G A snp 1053.77 0/1 99 243 195 48 0.2 exonic rs75101573 OR8U1 AU synonymous SNV NM_001005204 exon1 c.G153A p.A51A 0.2056 0.2194 Uncertain 11_56143256_A->G 11 56143256 56143256 A G snp 943.77 0/1 99 248 201 47 0.19 exonic rs74825677 OR8U1 AU nonsynonymous SNV NM_001005204 exon1 c.A157G p.T53A 4.598e-05 0 0.11 T 1 N -0.912 T 0.0 T 0.0 T Pathogenic 11_56143257_C->A 11 56143257 56143257 C A snp 946.77 0/1 99 248 201 47 0.19 exonic rs77515824 OR8U1 AU nonsynonymous SNV NM_001005204 exon1 c.C158A p.T53K 0.1979 0.2129 0 D 1 N -0.886 T 0.005 T 0.017 T Pathogenic 11_56143260_G->A 11 56143260 56143260 G A snp 966.77 0/1 99 249 201 48 0.19 exonic rs75727721 OR8U1 AU nonsynonymous SNV NM_001005204 exon1 c.G161A p.S54N 0.03 T 1 N -0.908 T 0.002 T 0.01 T Pathogenic 11_56143261_T->A 11 56143261 56143261 T A snp 953.77 0/1 99 248 201 47 0.19 exonic rs199607712 OR8U1 AU nonsynonymous SNV NM_001005204 exon1 c.T162A p.S54R 1 T 1.000 N -0.920 T 0.0 T 0.0 T Pathogenic 11_56143357_G->A 11 56143357 56143357 G A snp 423.77 0/1 99 231 197 34 0.15 exonic rs76949582 OR8U1 AU synonymous SNV NM_001005204 exon1 c.G258A p.L86L 0.1149 0.0791 Uncertain 11_56143360_C->T 11 56143360 56143360 C T snp 468.77 0/1 99 230 195 35 0.15 exonic rs79469149 OR8U1 AU synonymous SNV NM_001005204 exon1 c.C261T p.Y87Y 0.1013 0.0709 Uncertain 11_56143489_A->G 11 56143489 56143489 A G snp 1332.77 0/1 99 250 196 54 0.22 exonic rs74711788 OR8U1 AU synonymous SNV NM_001005204 exon1 c.A390G p.L130L 0.4216 0.4462 Uncertain 11_56143490_T->A 11 56143490 56143490 T A snp 1291.77 0/1 99 249 195 54 0.22 exonic rs79803210 OR8U1 AU nonsynonymous SNV NM_001005204 exon1 c.T391A p.L131M 0.4205 0.4436 0.05 T 1 N -0.976 T 0.007 T 0.02 T Pathogenic 11_56143501_T->G 11 56143501 56143501 T G snp 1189.77 0/1 99 250 199 51 0.2 exonic rs12272237 OR8U1 AU synonymous SNV NM_001005204 exon1 c.T402G p.V134V 0.4343 0.4669 Uncertain 11_56143508_A->T 11 56143508 56143508 A T snp 1047.77 0/1 99 250 204 46 0.18 exonic rs10791962 OR8U1 AU nonsynonymous SNV NM_001005204 exon1 c.A409T p.T137S 0.4343 0.4668 1 T 1.000 N -0.987 T 0.0 T 0.0 T Pathogenic 11_56143510_T->C 11 56143510 56143510 T C snp 892.77 0/1 99 250 207 43 0.17 exonic rs10791963 OR8U1 AU synonymous SNV NM_001005204 exon1 c.T411C p.T137T 0.4349 0.4685 Uncertain 11_56143528_A->G 11 56143528 56143528 A G snp 252.77 0/1 99 249 226 23 0.09 exonic rs10791964 OR8U1 AU synonymous SNV NM_001005204 exon1 c.A429G p.Q143Q 0.4470 0.4783 Uncertain 11_56143570_A->G 11 56143570 56143570 A G snp 1388.77 0/1 99 250 185 65 0.26 exonic rs11228169 OR8U1 AU synonymous SNV NM_001005204 exon1 c.A471G p.L157L 0.4685 0.4823 Uncertain 11_56143592_C->T 11 56143592 56143592 C T snp 2262.77 0/1 99 250 169 81 0.32 exonic rs17150411 OR8U1 AU nonsynonymous SNV NM_001005204 exon1 c.C493T p.R165C 0.3315 0.4365 0.03 T 0.0 P -1.050 T 0.03 T 0.022 T Pathogenic 11_56143690_C->A 11 56143690 56143690 C A snp 1675.77 0/1 99 250 178 72 0.29 exonic rs4990123 OR8U1 AU synonymous SNV NM_001005204 exon1 c.C591A p.L197L 0.4609 0.4789 Uncertain 11_56143696_C->T 11 56143696 56143696 C T snp 1584.77 0/1 99 248 181 67 0.27 exonic rs4990122 OR8U1 AU synonymous SNV NM_001005204 exon1 c.C597T p.I199I 0.00259585 0.001 0.4555 0.4774 Uncertain 11_56143699_T->G 11 56143699 56143699 T G snp 1495.77 0/1 99 248 183 65 0.26 exonic rs4990121 OR8U1 AU nonsynonymous SNV NM_001005204 exon1 c.T600G p.F200L 0.138978 0.1617 0.4528 0.4761 0.4 T 1 N -0.944 T 0.009 T 0.029 T Pathogenic 11_56143716_T->C 11 56143716 56143716 T C snp 1090.77 0/1 99 236 188 48 0.2 exonic rs10896309 OR8U1 AU nonsynonymous SNV NM_001005204 exon1 c.T617C p.M206T 0.4489 0.4731 0.1 T 1 N -0.903 T 0.0 T 0.001 T Pathogenic 11_56143717_G->A 11 56143717 56143717 G A snp 1079.77 0/1 99 235 187 48 0.2 exonic rs10896310 OR8U1 AU nonsynonymous SNV NM_001005204 exon1 c.G618A p.M206I 0.4482 0.4728 0.09 T 1 N -0.941 T 0.04 T 0.063 T Pathogenic 11_56143723_T->C 11 56143723 56143723 T C snp 1061.77 0/1 99 239 191 48 0.2 exonic rs12272349 OR8U1 AU synonymous SNV NM_001005204 exon1 c.T624C p.I208I 0.4486 0.4728 Uncertain 11_56143725_C->G 11 56143725 56143725 C G snp 1018.77 0/1 99 240 192 48 0.2 exonic rs77042014 OR8U1 AU nonsynonymous SNV NM_001005204 exon1 c.C626G p.S209C 0.4482 0.4727 0.34 T 1 N -1.029 T 0.002 T 0.011 T Pathogenic 11_56143729_C->T 11 56143729 56143729 C T snp 1035.77 0/1 99 240 192 48 0.2 exonic rs55888197 OR8U1 AU synonymous SNV NM_001005204 exon1 c.C630T p.S210S 0.4447 0.4719 Uncertain 11_56143730_C->G 11 56143730 56143730 C G snp 1072.77 0/1 99 243 194 49 0.2 exonic rs55860603 OR8U1 AU nonsynonymous SNV NM_001005204 exon1 c.C631G p.L211V 0.4446 0.4721 0.19 T 1 N -1.002 T 0.002 T 0.011 T Pathogenic 11_56143762_C->T 11 56143762 56143762 C T snp 955.77 0/1 99 226 185 41 0.18 exonic rs79307272 OR8U1 AU synonymous SNV NM_001005204 exon1 c.C663T p.I221I 0.3774 0.3806 Uncertain 11_56143767_C->T 11 56143767 56143767 C T snp 919.77 0/1 99 220 179 41 0.19 exonic rs79705206 OR8U1 AU nonsynonymous SNV NM_001005204 exon1 c.C668T p.S223F 0.3772 0.3821 0.29 T 1.000 N -1.042 T 0.001 T 0.008 T Pathogenic 11_56143784_C->A 11 56143784 56143784 C A snp 181.77 0/1 99 190 174 16 0.08 exonic rs76325618 OR8U1 AU nonsynonymous SNV NM_001005204 exon1 c.C685A p.H229N 1.769e-05 0 0.34 T 1 N -1.001 T 0.002 T 0.04 T Pathogenic 11_56143785_A->G 11 56143785 56143785 A G snp 192.77 0/1 99 194 178 16 0.08 exonic rs78143867 OR8U1 AU nonsynonymous SNV NM_001005204 exon1 c.A686G p.H229R 1 T 1 N -0.970 T 0.0 T 0.001 T Pathogenic 11_56143786_T->C 11 56143786 56143786 T C snp 162.77 0/1 99 195 179 16 0.08 exonic rs78531059 OR8U1 AU synonymous SNV NM_001005204 exon1 c.T687C p.H229H Uncertain 11_56143795_G->A 11 56143795 56143795 G A snp 195.77 0/1 99 199 182 17 0.09 exonic rs78729591 OR8U1 AU synonymous SNV NM_001005204 exon1 c.G696A p.E232E 0.3503 0.3358 Uncertain 11_56143803_A->G 11 56143803 56143803 A G snp 211.77 0/1 99 197 180 17 0.09 exonic rs202193035 OR8U1 AU nonsynonymous SNV NM_001005204 exon1 c.A704G p.Q235R 0.3403 0.3232 0.88 T 1 N -1.113 T 0.0 T 0.001 T Pathogenic 11_56143804_G->C 11 56143804 56143804 G C snp 221.77 0/1 99 198 181 17 0.09 exonic rs200433243 OR8U1 AU nonsynonymous SNV NM_001005204 exon1 c.G705C p.Q235H 0.3408 0.3232 0.78 T 1.000 N -1.099 T 0.0 T 0.001 T Pathogenic 11_56143807_G->A 11 56143807 56143807 G A snp 198.77 0/1 99 197 180 17 0.09 exonic rs201727202 OR8U1 AU synonymous SNV NM_001005204 exon1 c.G708A p.K236K 0.3360 0.3160 Uncertain 11_56143810_T->C 11 56143810 56143810 T C snp 242.77 0/1 99 193 175 18 0.09 exonic rs201982103 OR8U1 AU synonymous SNV NM_001005204 exon1 c.T711C p.A237A 0.3014 0.2704 Uncertain 11_56143816_G->C 11 56143816 56143816 G C snp 203.77 0/1 99 197 179 18 0.09 exonic rs111512467 OR8U1 AU synonymous SNV NM_001005204 exon1 c.G717C p.S239S 0.2959 0.2656 Uncertain 11_56143819_G->C 11 56143819 56143819 G C snp 255.77 0/1 99 198 178 20 0.1 exonic rs113312059 OR8U1 AU synonymous SNV NM_001005204 exon1 c.G720C p.T240T 0.2943 0.2629 Uncertain 11_56143823_G->A 11 56143823 56143823 G A snp 309.77 0/1 99 194 174 20 0.1 exonic rs77614949 OR8U1 AU nonsynonymous SNV NM_001005204 exon1 c.G724A p.G242S 0.2879 0.2556 0.45 T 1 N -1.008 T 0.025 T 0.099 T Pathogenic 11_56143858_G->C 11 56143858 56143858 G C snp 255.77 0/1 99 178 160 18 0.1 exonic rs78068762 OR8U1 AU synonymous SNV NM_001005204 exon1 c.G759C p.G253G 0.0072 0.0044 Uncertain 11_56143864_C->G 11 56143864 56143864 C G snp 186.77 0/1 99 177 160 17 0.1 exonic rs111260371 OR8U1 AU synonymous SNV NM_001005204 exon1 c.C765G p.L255L 0.0072 0.0044 Uncertain 11_56143867_T->C 11 56143867 56143867 T C snp 109.77 0/1 99 175 158 17 0.1 exonic rs111341120 OR8U1 AU synonymous SNV NM_001005204 exon1 c.T768C p.I256I 0.0066 0.0042 Uncertain 11_56143882_G->A 11 56143882 56143882 G A snp 65.77 0/1 94 162 150 12 0.07 exonic rs113061820 OR8U1 AU synonymous SNV NM_001005204 exon1 c.G783A p.Q261Q 0.0063 0.0040 Uncertain 11_56143885_T->A 11 56143885 56143885 T A snp 56.77 0/1 85 163 151 12 0.07 exonic rs111871244 OR8U1 AU synonymous SNV NM_001005204 exon1 c.T786A p.P262P 0.0063 0.0039 Uncertain 11_56143891_T->A 11 56143891 56143891 T A snp 69.77 0/1 98 164 152 12 0.07 exonic rs112265664 OR8U1 AU synonymous SNV NM_001005204 exon1 c.T792A p.S264S 0.0063 0.0038 Uncertain 11_56184792_T->C 11 56184792 56184792 T C snp 1032.77 0/1 99 102 61 41 0.4 exonic rs749170163 OR5R1 AU nonsynonymous SNV NM_001004744 exon1 c.A917G p.D306G 2.544e-05 0.0003 0.59 T 1 N -0.989 T 0.0 T 0.0 T Pathogenic 11_56184888_G->A 11 56184888 56184888 G A snp 3393.77 0/1 99 246 106 140 0.57 exonic rs998544 OR5R1 AU nonsynonymous SNV NM_001004744 exon1 c.C821T p.A274V 0.446885 0.6429 0.318532 0.4326 0.6464 0.33 T 0.0 P -0.958 T 0.999 D 0.986 D Pathogenic 11_56185345_A->G 11 56185345 56185345 A G snp 1884.77 0/1 99 163 87 76 0.47 exonic rs6591324 OR5R1 AU nonsynonymous SNV NM_001004744 exon1 c.T364C p.C122R 0.769768 0.7798 0.750808 0.7655 0.7675 1 T 0.972 P -1.026 T 0.0 T 0.0 T Pathogenic 11_56216821_G->A 11 56216821 56216821 G A snp 1925.77 0/1 99 181 96 85 0.47 intergenic rs11228420 OR5R1 AU 0.106829 0.124 Uncertain 11_56237487_C->T 11 56237487 56237487 C T snp 1608.77 0/1 99 131 72 59 0.45 exonic rs17150664 OR5M3 AU nonsynonymous SNV NM_001004742 exon1 c.G487A p.G163S 0.0179712 0.0883 0.000308 0.0058 0.0744 0.64 T 1.000 N -1.111 T 0.327 T 0.079 T Pathogenic 11_56310222_C->T 11 56310222 56310222 C T snp 1410.77 0/1 99 132 70 62 0.47 exonic rs628524 OR5M11 AU nonsynonymous SNV NM_001005245 exon1 c.G512A p.S171N 0.69389 0.875 0.645626 0.7449 0.8511 1 T 0.000 P -1.000 T 0.0 T 0.001 T Pathogenic 11_56310877_-->TT 11 56310877 56310877 - TT indel 191.73 0/1 99 11 6 5 0.45 upstream rs398097552 OR5M11 AU 0.693091 0.875 Uncertain 11_56344993_C->A 11 56344993 56344993 C A snp 2455.77 0/1 99 205 104 101 0.49 exonic rs10792043 OR5M10 AU nonsynonymous SNV NM_001004741 exon1 c.G205T p.V69L 0.653754 0.874 0.584579 0.6779 0.8506 0.13 T 0.002 P -0.958 T 0.09 T 0.063 T Pathogenic 11_56380134_C->G 11 56380134 56380134 C G snp 1982.77 0/1 99 171 92 79 0.46 exonic rs4939078 OR5M1 AU nonsynonymous SNV NM_001004740 exon1 c.G845C p.S282T 0.418331 0.622 0.267960 0.3789 0.6224 0.01 T 0.015 P -1.045 T 0.996 D 0.955 D Pathogenic 11_56431216_C->T 11 56431216 56431216 C T snp 2439.77 0/1 99 181 88 93 0.51 exonic rs11228710 OR5AR1 AU stopgain NM_001004730 exon1 c.C55T p.Q19X 0.623003 0.7857 0.570340 0.6887 0.7730 0.02 T 1.0 P Pathogenic 11_56467716_G->A 11 56467716 56467716 G A snp 77.77 0/1 67 5 2 3 0.6 upstream rs79477971 OR9G1 AU Uncertain 11_56467759_C->A 11 56467759 56467759 C A snp 146.77 0/1 99 10 5 5 0.5 upstream rs77393388 OR9G1 AU Uncertain 11_56467760_G->A 11 56467760 56467760 G A snp 158.77 0/1 99 10 5 5 0.5 upstream rs79740513 OR9G1 AU Uncertain 11_56467761_A->G 11 56467761 56467761 A G snp 156.77 0/1 99 10 5 5 0.5 upstream rs76620500 OR9G1 AU Uncertain 11_56467763_A->T 11 56467763 56467763 A T snp 156.77 0/1 99 10 5 5 0.5 upstream rs75599799 OR9G1 AU Uncertain 11_56467764_C->T 11 56467764 56467764 C T snp 155.77 0/1 99 12 6 6 0.5 upstream rs78916686 OR9G1 AU Uncertain 11_56467787_A->G 11 56467787 56467787 A G snp 486.77 0/1 99 26 10 16 0.62 upstream rs74218731 OR9G1 AU Uncertain 11_56467810_A->T 11 56467810 56467810 A T snp 512.77 0/1 99 34 16 18 0.53 upstream rs76085479 OR9G1 AU Uncertain 11_56467813_A->G 11 56467813 56467813 A G snp 535.77 0/1 99 36 18 18 0.5 upstream rs77180330 OR9G1 AU 0.4986 0.4988 Uncertain 11_56467816_G->T 11 56467816 56467816 G T snp 535.77 0/1 99 38 20 18 0.47 upstream rs78119960 OR9G1 AU 0.4986 0.4988 Uncertain 11_56467819_A->G 11 56467819 56467819 A G snp 506.77 0/1 99 39 21 18 0.46 upstream rs78036340 OR9G1 AU 0.4989 0.4989 Uncertain 11_56467833_T->C 11 56467833 56467833 T C snp 576.77 0/1 99 52 28 24 0.46 upstream rs73474897 OR9G1 AU 0.4989 0.4994 Uncertain 11_56467881_T->C 11 56467881 56467881 T C snp 975.77 0/1 99 89 49 40 0.45 exonic rs73474900 OR9G1 AU synonymous SNV NM_001005213 exon1 c.T18C p.H6H 0.000199681 0.5000 0.4998 Uncertain 11_56467926_A->G 11 56467926 56467926 A G snp 1533.77 0/1 99 140 74 66 0.47 exonic rs1704284 OR9G1 AU synonymous SNV NM_001005213 exon1 c.A63G p.G21G 0.00179712 0.5000 0.4999 Uncertain 11_56467945_G->T 11 56467945 56467945 G T snp 454.77 0/1 99 158 131 27 0.17 exonic rs36184181 OR9G1 AU nonsynonymous SNV NM_001005213 exon1 c.G82T p.V28L 0.000798722 0.001 0.232800 0.3846 0.4180 0.82 T 1 N -0.993 T 0.009 T 0.024 T Pathogenic 11_56468020_T->C 11 56468020 56468020 T C snp 3194.83 0/1 99 174 46 128 0.74 exonic rs532637 OR9G1 AU nonsynonymous SNV NM_001005213 exon1 c.T157C p.C53R 0.412141 0.2312 0.5785 0.5312 1 T 0.0 P -1.075 T 0.0 T 0.0 T Pathogenic 11_56468021_G->A 11 56468021 56468021 G A snp 1570.77 0/1 99 173 101 72 0.42 exonic rs532635 OR9G1 AU nonsynonymous SNV NM_001005213 exon1 c.G158A p.C53Y 0.000599042 0.4978 0.4963 0.02 T 0.0 P -1.004 T 0.0 T 0.0 T Pathogenic 11_56468044_T->G 11 56468044 56468044 T G snp 2595.77 0/1 99 152 55 97 0.64 exonic rs3975155 OR9G1 AU nonsynonymous SNV NM_001005213 exon1 c.T181G p.F61V 0.58147 0.7688 0.6854 0.7746 0 D 0.618 P -1.026 T 0.108 T 0.109 T Pathogenic 11_56468047_A->G 11 56468047 56468047 A G snp 2445.77 0/1 99 148 53 95 0.64 exonic rs2865519 OR9G1 AU nonsynonymous SNV NM_001005213 exon1 c.A184G p.T62A 0.580272 0.7688 0.6852 0.7744 0 D 0.000 P -1.063 T 0.004 T 0.017 T Pathogenic 11_56468048_C->T 11 56468048 56468048 C T snp 4336.77 1/1 99 150 0 150 1.0 exonic rs2865520 OR9G1 AU nonsynonymous SNV NM_001005213 exon1 c.C185T p.T62I 0.998203 1 0.997614 0.9987 0.9993 0.07 T 0.001 P -0.915 T 0.0 T 0.0 T Pathogenic 11_56468111_C->T 11 56468111 56468111 C T snp 1395.77 0/1 99 150 96 54 0.36 exonic rs602224 OR9G1 AU nonsynonymous SNV NM_001005213 exon1 c.C248T p.T83I 0.4961 0.4999 0.02 T 1 N -0.918 T 0.042 T 0.049 T Pathogenic 11_56468155_T->G 11 56468155 56468155 T G snp 1328.77 0/1 99 191 130 61 0.32 exonic rs11228732 OR9G1 AU nonsynonymous SNV NM_001005213 exon1 c.T292G p.C98G 0.361821 0.2292 0.2538 0.2174 0.04 T 1 N -0.982 T 0.011 T 0.019 T Pathogenic 11_56468198_A->G 11 56468198 56468198 A G snp 3037.77 0/1 99 239 116 123 0.51 exonic rs4990194 OR9G1 AU nonsynonymous SNV NM_001005213 exon1 c.A335G p.Y112C 0.00559105 0.5029 0.4998 0.01 T 0.570 D -0.909 T 1.0 D 0.999 D Pathogenic 11_56468200_C->T 11 56468200 56468200 C T snp 2987.77 0/1 99 241 122 119 0.49 exonic rs4990195 OR9G1 AU synonymous SNV NM_001005213 exon1 c.C337T p.L113L 0.00559105 0.5029 0.4998 Uncertain 11_56468202_G->A 11 56468202 56468202 G A snp 3036.77 0/1 99 247 124 123 0.5 exonic rs4990196 OR9G1 AU synonymous SNV NM_001005213 exon1 c.G339A p.L113L 0.00559105 0.5029 0.4998 Uncertain 11_56468212_G->A 11 56468212 56468212 G A snp 3148.77 0/1 99 250 114 136 0.54 exonic rs591369 OR9G1 AU nonsynonymous SNV NM_001005213 exon1 c.G349A p.V117M 0.0119808 0.001 0.5017 0.4999 1 T 1.000 N -0.942 T 0.0 T 0.0 T Pathogenic 11_56468259_C->T 11 56468259 56468259 C T snp 3298.77 0/1 99 250 131 119 0.48 exonic rs503776 OR9G1 AU synonymous SNV NM_001005213 exon1 c.C396T p.A132A 0.4998 0.5 Uncertain 11_56468368_C->T 11 56468368 56468368 C T snp 3095.77 0/1 99 250 136 114 0.46 exonic rs11228733 OR9G1 AU nonsynonymous SNV NM_001005213 exon1 c.C505T p.R169C 0.000798722 0.4946 0.4848 0.02 T 1 N -0.978 T 0.782 T 0.67 P Pathogenic 11_56468403_G->A 11 56468403 56468403 G A snp 3067.77 0/1 99 250 137 113 0.45 exonic rs11228734 OR9G1 AU synonymous SNV NM_001005213 exon1 c.G540A p.L180L 0.4939 0.4814 Uncertain 11_56468416_G->A 11 56468416 56468416 G A snp 3097.77 0/1 99 249 136 113 0.45 exonic rs11228735 OR9G1 AU nonsynonymous SNV NM_001005213 exon1 c.G553A p.E185K 0.4940 0.4825 0.64 T 1 N -0.889 T 0.0 T 0.001 T Pathogenic 11_56468440_G->T 11 56468440 56468440 G T snp 1228.77 0/1 99 249 193 56 0.22 exonic rs12421330 OR9G1 AU nonsynonymous SNV NM_001005213 exon1 c.G577T p.G193C 0.3301 0.3999 0.01 T 1 N -0.802 T 0.885 T 0.899 P Pathogenic 11_56468448_A->G 11 56468448 56468448 A G snp 2486.77 0/1 99 240 144 96 0.4 exonic rs80194264 OR9G1 AU synonymous SNV NM_001005213 exon1 c.A585G p.K195K 0.4943 0.4837 CLINSIG=untested;CLNDBN=Malignant_melanoma;CLNREVSTAT=no_assertion_provided;CLNACC=RCV000069498.2;CLNDSDB=MedGen:SNOMED_CT;CLNDSDBID=C0025202:2092003 Uncertain 11_56468449_A->T 11 56468449 56468449 A T snp 2508.77 0/1 99 240 144 96 0.4 exonic rs78119083 OR9G1 AU nonsynonymous SNV NM_001005213 exon1 c.A586T p.I196F 0.4942 0.4833 0.01 T 1 N -0.920 T 0.0 T 0.003 T Pathogenic 11_56468452_A->C 11 56468452 56468452 A C snp 2565.77 0/1 99 243 146 97 0.4 exonic rs79970235 OR9G1 AU nonsynonymous SNV NM_001005213 exon1 c.A589C p.M197L 0.4943 0.4838 0.43 T 1 N -1.067 T 0.0 T 0.001 T Pathogenic 11_56468493_A->G 11 56468493 56468493 A G snp 4866.77 0/1 99 247 71 176 0.71 exonic rs10792053 OR9G1 AU synonymous SNV NM_001005213 exon1 c.A630G p.A210A 0.158147 0.122 0.5040 0.4980 Uncertain 11_56468554_A->C 11 56468554 56468554 A C snp 4647.77 0/1 99 248 66 182 0.73 exonic rs12420076 OR9G1 AU nonsynonymous SNV NM_001005213 exon1 c.A691C p.K231Q 0.0650958 0.0437 0.382099 0.5041 0.4990 0.15 T 0.0 P -0.963 T 0.0 T 0.0 T Pathogenic 11_56468560_T->C 11 56468560 56468560 T C snp 4548.77 0/1 99 245 67 178 0.73 exonic rs10896516 OR9G1 AU nonsynonymous SNV NM_001005213 exon1 c.T697C p.Y233H 0.0784744 0.0605 0.5039 0.4988 0.06 T 1 N -0.903 T 0.0 T 0.0 T Pathogenic 11_56468561_A->G 11 56468561 56468561 A G snp 4496.77 0/1 99 244 67 177 0.73 exonic rs10896517 OR9G1 AU nonsynonymous SNV NM_001005213 exon1 c.A698G p.Y233C 0.0790735 0.0605 0.5040 0.4986 0.01 T 1 N -0.917 T 0.0 T 0.0 T Pathogenic 11_56468637_C->T 11 56468637 56468637 C T snp 2501.77 0/1 99 250 156 94 0.38 exonic rs76884192 OR9G1 AU synonymous SNV NM_001005213 exon1 c.C774T p.Y258Y 0.4931 0.4845 Uncertain 11_56468646_C->T 11 56468646 56468646 C T snp 2472.77 0/1 99 250 161 89 0.36 exonic rs78493274 OR9G1 AU synonymous SNV NM_001005213 exon1 c.C783T p.P261P 0.4926 0.4841 Uncertain 11_56468694_C->T 11 56468694 56468694 C T snp 2496.77 0/1 99 250 147 103 0.41 exonic rs79060400 OR9G1 AU synonymous SNV NM_001005213 exon1 c.C831T p.Y277Y 0.4850 0.4742 Uncertain 11_56468699_T->A 11 56468699 56468699 T A snp 2605.77 0/1 99 250 146 104 0.42 exonic rs79251113 OR9G1 AU nonsynonymous SNV NM_001005213 exon1 c.T836A p.V279E 0.4850 0.4746 0 D 0.792 P -1.032 T 0.996 D 0.988 D Pathogenic 11_56468704_T->C 11 56468704 56468704 T C snp 2618.77 0/1 99 250 142 108 0.43 exonic rs79288825 OR9G1 AU nonsynonymous SNV NM_001005213 exon1 c.T841C p.F281L 0.4852 0.4751 0 D 0.0 P -1.025 T 0.022 T 0.06 T Pathogenic 11_56468720_T->C 11 56468720 56468720 T C snp 2498.77 0/1 99 249 142 107 0.43 exonic rs66943455 OR9G1 AU nonsynonymous SNV NM_001005213 exon1 c.T857C p.L286P 0.4847 0.4738 1 T 0.954 D -0.886 T 0.0 T 0.0 T Pathogenic 11_56468817_G->T 11 56468817 56468817 G T snp 1001.77 0/1 99 174 129 45 0.26 downstream rs74605930 OR9G1 AU 0.4975 0.4964 Uncertain 11_56468819_C->T 11 56468819 56468819 C T snp 951.77 0/1 99 168 124 44 0.26 downstream rs78460796 OR9G1 AU 0.4968 0.4954 Uncertain 11_56468820_C->T 11 56468820 56468820 C T snp 941.77 0/1 99 166 121 45 0.27 downstream rs77083631 OR9G1 AU 0.4965 0.4955 Uncertain 11_56468828_G->C 11 56468828 56468828 G C snp 897.77 0/1 99 155 113 42 0.27 downstream rs530142 OR9G1 AU 0.4957 0.4953 Uncertain 11_56468832_G->T 11 56468832 56468832 G T snp 914.77 0/1 99 150 108 42 0.28 downstream rs79579174 OR9G1 AU 0.4946 0.4934 Uncertain 11_56468835_G->T 11 56468835 56468835 G T snp 970.77 0/1 99 146 104 42 0.29 downstream rs588308 OR9G1 AU Uncertain 11_56508476_T->C 11 56508476 56508476 T C snp 207.77 0/1 99 24 16 8 0.33 intergenic OR9G1 AU 0.321286 0.6052 0.151774 0.3289 0.6245 Uncertain 11_56508525_A->G 11 56508525 56508525 A G snp 537.77 0/1 99 57 36 21 0.37 intergenic OR9G1 AU 0.645767 0.7054 0.592860 0.6318 0.7104 Uncertain 11_56508541_C->T 11 56508541 56508541 C T snp 1045.77 0/1 99 69 28 41 0.59 intergenic OR9G1 AU 0.0866613 0.119 0.074244 0.1346 0.2124 Uncertain 11_56508619_G->A 11 56508619 56508619 G A snp 673.77 0/1 99 81 46 35 0.43 intergenic OR9G1 AU 0.613019 0.7063 0.560885 Uncertain 11_56508686_C->T 11 56508686 56508686 C T snp 528.77 0/1 99 37 17 20 0.54 intergenic OR9G1 AU 0.0866613 0.119 Uncertain 11_56508728_A->- 11 56508728 56508728 A - indel 182.73 0/1 99 15 9 6 0.4 intergenic OR9G1 AU 0.438099 0.62 Uncertain 11_56510243_A->G 11 56510243 56510243 A G snp 244.77 0/1 99 26 17 9 0.35 downstream OR9G4 AU 0.438299 0.62 Uncertain 11_56510672_T->C 11 56510672 56510672 T C snp 5300.77 1/1 99 180 0 180 1.0 exonic OR9G4 AU nonsynonymous SNV NM_001005284 exon1 c.A616G p.N206D 0.987819 1 0.989841 0.9969 0.9998 1 T 0.0 P -0.960 T 0.0 T 0.001 T Pathogenic 11_56511160_A->G 11 56511160 56511160 A G snp 2062.77 0/1 99 182 93 89 0.49 exonic OR9G4 AU nonsynonymous SNV NM_001005284 exon1 c.T128C p.F43S 0.100639 0.119 0.087117 0.1008 0.1473 0 D 0.000 P -1.122 T 0.999 D 0.994 D Pathogenic 11_56756399_G->T 11 56756399 56756399 G T snp 7188.77 1/1 99 250 2 248 0.99 exonic rs10896563 OR5AK2 AU nonsynonymous SNV NM_001005323 exon1 c.G11T p.G4V 0.136581 0.3879 0.055410 0.0997 0.3749 0.17 T 0.000 P -1.097 T 0.262 T 0.194 T Pathogenic 11_56756664_G->A 11 56756664 56756664 G A snp 4500.77 1/1 99 158 0 158 1.0 exonic rs2853083 OR5AK2 AU nonsynonymous SNV NM_001005323 exon1 c.G276A p.M92I 0.709465 0.7093 0.698199 0.6355 0.7119 1 T 0.0 P -0.902 T 0.0 T 0.0 T Pathogenic 11_56785625_G->T 11 56785625 56785625 G T snp 4239.77 1/1 99 149 0 149 1.0 intergenic rs10792074 OR5AK2 AU 0.119808 0.3413 Uncertain 11_56949691_G->A 11 56949691 56949691 G A snp 2745.77 0/1 99 250 135 115 0.46 exonic rs12364102 LRRC55 AU nonsynonymous SNV NM_001005210 exon1 c.G324A p.M108I 0.0664936 0.0714 0.091427 0.0902 0.0725 0.11 T 0.998 P -1.098 T 0.002 T 0.004 T Pathogenic 11_56950264_A->G 11 56950264 56950264 A G snp 194.77 0/1 60 8 2 6 0.75 intronic rs609763 LRRC55 AU NM_001005210 exon1 c.790+107A>G 0.809105 0.6796 Uncertain 11_56954846_C->T 11 56954846 56954846 C T snp 2795.77 0/1 99 250 136 114 0.46 exonic rs716745 LRRC55 AU synonymous SNV NM_001005210 exon2 c.C918T p.F306F 0.241813 0.1925 0.311913 0.3152 0.1736 Uncertain 11_57004577_C->T 11 57004577 57004577 C T snp 309.78 1/1 24 9 0 9 1.0 UTR5 rs11544374 APLNR AU 0.185304 0.1815 Uncertain 11_57077464_T->C 11 57077464 57077464 T C snp 2973.77 0/1 99 250 127 123 0.49 exonic rs10896602 TNKS1BP1 AU synonymous SNV NM_033396 exon6 c.A2721G p.Q907Q 0.331669 0.2827 0.360012 0.3115 0.2846 Uncertain 11_57081197_G->C 11 57081197 57081197 G C snp 531.77 0/1 99 50 25 25 0.5 exonic rs4939134 TNKS1BP1 AU nonsynonymous SNV NM_033396 exon5 c.C965G p.T322S 0.486821 0.7063 0.398799 0.6039 0.7275 1 T 0.0 P -0.950 T 0.0 T 0.0 T Pathogenic 11_57081475_C->A 11 57081475 57081475 C A snp 354.78 1/1 27 10 0 10 1.0 intronic rs4939135 TNKS1BP1 AU NM_033396 exon8 c.13350+112C>A 0.642772 0.6131 Uncertain 11_57098543_C->T 11 57098543 57098543 C T snp 143.77 0/1 99 13 7 6 0.46 intronic rs56916545 SSRP1 AU NM_003146 exon8 c.4521+142C>T 0.0291534 0.0952 Uncertain 11_57117385_C->T 11 57117385 57117385 C T snp 1165.77 0/1 99 88 45 43 0.49 intronic rs2276042 P2RX3 AU NM_002559 exon7 c.11348+13C>T 0.444089 0.6687 0.305526 0.4443 0.6830 Uncertain 11_57118467_A->C 11 57118467 57118467 A C snp 567.77 0/1 99 41 19 22 0.54 intronic rs3741090 P2RX3 AU NM_002559 exon8 c.12348+95A>C 0.434704 0.6687 Uncertain 11_57135663_-->G 11 57135663 57135663 - G indel 751.73 1/1 60 24 0 24 1.0 intronic rs397751990 P2RX3 AU NM_002559 exon9 c.29552+87insG 0.9998 1 Uncertain 11_57137296_G->A 11 57137296 57137296 G A snp 5818.77 1/1 99 205 0 205 1.0 intronic rs2276040 P2RX3 AU NM_002559 exon12 c.31332-60G>A 0.547724 0.3631 Uncertain 11_57137538_-->G 11 57137538 57137538 - G indel 2128.73 1/1 99 69 0 69 1.0 UTR3 rs67821929 P2RX3 AU Uncertain 11_57144152_G->C 11 57144152 57144152 G C snp 772.77 1/1 57 22 0 22 1.0 downstream rs1867126 PRG3 AU 0.961462 1 Uncertain 11_57146479_G->A 11 57146479 57146479 G A snp 48.74 1/1 6 2 0 2 1.0 intronic rs514861 PRG3 AU NM_006093 exon3 c.1963+194G>A 0.958666 0.996 Uncertain 11_57147016_A->G 11 57147016 57147016 A G snp 5303.77 1/1 99 189 0 189 1.0 exonic rs540687 PRG3 AU nonsynonymous SNV NM_006093 exon3 c.T326C p.I109T 0.958466 0.996 0.954748 0.9875 0.9985 1 T 0.0 P -0.974 T 0.0 T 0.0 T Pathogenic 11_57147353_G->C 11 57147353 57147353 G C snp 1469.77 1/1 99 42 0 42 1.0 intronic rs544079 PRG3 AU NM_006093 exon4 c.2958+73G>C 0.958067 0.996 Uncertain 11_57148053_G->T 11 57148053 57148053 G T snp 478.77 1/1 36 20 0 20 1.0 intronic rs571651 PRG3 AU NM_006093 exon5 c.3798-67G>T 0.884984 0.996 0.891809 Uncertain 11_57148175_A->G 11 57148175 57148175 A G snp 2262.77 1/1 99 90 0 90 1.0 exonic rs669661 PRG3 AU nonsynonymous SNV NM_006093 exon2 c.T7C p.C3R 0.957867 0.996 0.954280 0.9874 0.9983 0.8 T 0.0 P -0.974 T 0.0 T 0.0 T Pathogenic 11_57155001_G->A 11 57155001 57155001 G A snp 3537.77 1/1 99 122 0 122 1.0 exonic rs536455 PRG2 AU nonsynonymous SNV NM_001243245 exon6 c.C583T p.H195Y 0.884984 0.996 0.879406 0.9674 0.9985 0.33 T 0.000 P -0.973 T 0.531 P 0.479 P Pathogenic 11_57155288_T->C 11 57155288 57155288 T C snp 2750.77 1/1 99 97 0 97 1.0 exonic rs630396 PRG2 AU synonymous SNV NM_001243245 exon5 c.A516G p.A172A 0.941094 0.996 0.944719 0.9823 0.9981 Uncertain 11_57156438_A->G 11 57156438 57156438 A G snp 384.77 0/1 99 24 10 14 0.58 intronic rs3741089 PRG2 AU NM_001302926 exon4 c.1535-44A>G 0.289936 0.2341 0.400493 0.3774 0.2523 Uncertain 11_57157405_A->G 11 57157405 57157405 A G snp 1271.77 0/1 99 134 77 57 0.43 exonic rs490358 PRG2 AU synonymous SNV NM_001243245 exon2 c.T13C p.L5L 0.752196 0.7718 0.696091 0.7569 0.7765 Uncertain 11_57176628_C->T 11 57176628 57176628 C T snp 2100.77 0/1 99 152 64 88 0.58 intronic rs2241899 SLC43A3 AU NM_199329 exon2 c.1383-19C>T 0.18151 0.2421 0.229798 0.2239 0.2437 Uncertain 11_57184218_C->T 11 57184218 57184218 C T snp 1027.77 1/1 75 32 0 32 1.0 intronic rs4938865 SLC43A3 AU NM_199329 exon6 c.8879+75C>T 0.967452 1 Uncertain 11_57188960_A->G 11 57188960 57188960 A G snp 804.77 0/1 99 61 32 29 0.48 intronic SLC43A3 AU NM_199329 exon9 c.13582+114A>G Uncertain 11_57243588_A->G 11 57243588 57243588 A G snp 5394.77 1/1 99 199 0 199 1.0 intronic rs2258835 RTN4RL2 AU NM_178570 exon3 c.15296-46A>G 0.811502 0.8948 0.797744 0.7852 0.8930 Uncertain 11_57258617_T->C 11 57258617 57258617 T C snp 2317.77 1/1 99 86 0 86 1.0 intronic rs2729384 SLC43A1 AU NM_003627 exon5 c.6128-79T>C 0.809305 0.9008 Uncertain 11_57265400_C->T 11 57265400 57265400 C T snp 176.9 1/1 15 7 0 7 1.0 intronic rs2581922 SLC43A1 AU NM_003627 exon10 c.12750+82C>T 0.807109 0.8988 Uncertain 11_57268170_T->C 11 57268170 57268170 T C snp 141.03 1/1 12 4 0 4 1.0 intronic rs2250673 SLC43A1 AU NM_003627 exon11 c.15683-81T>C 0.80611 0.9008 Uncertain 11_57313469_C->G 11 57313469 57313469 C G snp 1860.77 1/1 99 69 0 69 1.0 exonic rs12223229 SMTNL1 AU nonsynonymous SNV NM_001105565 exon4 c.C1033G p.R345G 0.507588 0.752 0.398234 0.4792 0.7361 0.4 T 0.0 P -1.208 T 0.991 D 0.859 D Pathogenic 11_57313659_G->A 11 57313659 57313659 G A snp 603.77 1/1 45 20 0 20 1.0 intronic rs2649658 SMTNL1 AU NM_001105565 exon5 c.3590-46G>A 0.520168 0.751 0.416115 0.4890 0.7235 Uncertain 11_57320044_T->C 11 57320044 57320044 T C snp 2337.77 1/1 99 68 0 68 1.0 intronic rs2234412 UBE2L6 AU NM_004223 exon1 c.152+62T>C 0.61262 0.8016 Uncertain 11_57321811_T->G 11 57321811 57321811 T G snp 96.28 1/1 9 3 0 3 1.0 intronic rs2234409 UBE2L6 AU NM_004223 exon2 c.2079-98T>G 0.513778 0.7589 Uncertain 11_57367222_C->T 11 57367222 57367222 C T snp 662.77 1/1 51 21 0 21 1.0 intronic rs1005510 SERPING1 AD NM_000062 exon3 c.1608-129C>T 0.509185 0.7649 Uncertain 11_57369353_A->G 11 57369353 57369353 A G snp 222.84 1/1 18 6 0 6 1.0 intronic rs2936694 SERPING1 AD NM_000062 exon4 c.3764-154A>G Uncertain 11_57413943_C->G 11 57413943 57413943 C G snp 862.77 1/1 63 25 0 25 1.0 intronic rs12793139 YPEL4 AU NM_145008 exon2 c.425+65C>G 0.442093 0.7897 Uncertain 11_57414387_A->G 11 57414387 57414387 A G snp 2378.77 1/1 99 78 0 78 1.0 intronic rs7947357 YPEL4 AU NM_145008 exon4 c.986-52A>G 0.622804 0.8829 Uncertain 11_57424390_A->- 11 57424390 57424390 A - indel 259.74 1/1 30 10 0 10 1.0 upstream rs398016139 CLP1 AR 0.992412 0.9871 Uncertain 11_57456244_C->T 11 57456244 57456244 C T snp 1121.77 1/1 81 36 0 36 1.0 intronic rs549022 ZDHHC5 AU NM_015457 exon4 c.15575+107C>T 0.407348 0.7966 Uncertain 11_57461226_TC->- 11 57461226 57461227 TC - indel 182.73 0/1 99 26 19 7 0.27 intronic rs141993890 ZDHHC5 AU NM_015457 exon8 c.20692-28_20692-27delTC 0.4231 0.4122 Uncertain 11_57463500_T->C 11 57463500 57463500 T C snp 1405.77 1/1 99 55 0 55 1.0 exonic rs1783978 ZDHHC5 AU synonymous SNV NM_015457 exon9 c.T994C p.L332L 0.660144 0.8968 0.569263 0.6169 0.8967 Uncertain 11_57480300_T->G 11 57480300 57480300 T G snp 1433.77 0/1 99 118 59 59 0.5 ncRNA_intronic rs2276320 TMX2-CTNND1 AU 0.0355431 0.1696 0.000385 0.0116 0.1515 Uncertain 11_57509429_A->G 11 57509429 57509429 A G snp 4425.77 1/1 99 154 0 154 1.0 splicing rs635663 C11orf31 AU NM_170746 exon2 c.359+3A>G 0.934105 0.999 0.946196 0.9842 1 Pathogenic 11_57571232_C->T 11 57571232 57571232 C T snp 3538.77 1/1 99 127 0 127 1.0 exonic rs11229137 CTNND1 AU synonymous SNV NM_001085469 exon5 c.C1257T p.H419H 0.996206 1 0.997888 0.9992 1 Uncertain 11_57581613_C->A 11 57581613 57581613 C A snp 141.03 1/1 12 4 0 4 1.0 ncRNA_intronic rs623541 TMX2-CTNND1 AU 0.587061 0.8948 Uncertain 11_57798723_A->G 11 57798723 57798723 A G snp 3891.77 1/1 99 133 0 133 1.0 exonic rs921135 OR6Q1 AU nonsynonymous SNV NM_001005186 exon1 c.A299G p.D100G 0.408147 0.6825 0.311451 0.3517 0.6823 1 T 0.0 P -1.040 T 0.0 T 0.0 T Pathogenic 11_57798798_A->T 11 57798798 57798798 A T snp 2227.77 0/1 99 155 70 85 0.55 exonic rs117450252 OR6Q1 AU nonsynonymous SNV NM_001005186 exon1 c.A374T p.D125V 0.00678914 0.0308 0.0029 0.0387 0 D 1.000 D -0.808 T 1.0 D 1.0 D Pathogenic 11_57798942_A->G 11 57798942 57798942 A G snp 7557.77 1/1 99 250 0 250 1.0 exonic rs2513726 OR6Q1 AU nonsynonymous SNV NM_001005186 exon1 c.A518G p.Y173C 0.408147 0.6825 0.311451 0.3518 0.6824 1 T 0.003 P -0.993 T 0.0 T 0.0 T Pathogenic 11_57876682_C->T 11 57876682 57876682 C T snp 1791.77 0/1 99 160 90 70 0.44 intronic rs61738000 OR9Q1 AU 0.121206 0.0982 0.1932 0.1274 Uncertain 11_57947264_C->G 11 57947264 57947264 C G snp 2005.77 0/1 99 211 133 78 0.37 exonic rs11229273 OR9Q1 AU synonymous SNV NM_001005212 exon3 c.C348G p.A116A 0.335264 0.5754 0.218870 0.3105 0.5831 Uncertain 11_57958775_C->T 11 57958775 57958775 C T snp 7029.77 1/1 99 249 0 249 1.0 exonic rs7120468 OR9Q2 AU synonymous SNV NM_001005283 exon1 c.C813T p.D271D 0.423922 0.752 0.293751 0.3713 0.7454 Uncertain 11_57958972_C->A 11 57958972 57958972 C A snp 1445.77 1/1 99 50 0 50 1.0 UTR3 rs1451317 OR9Q2 AU 0.423123 0.752 Uncertain 11_57971195_G->A 11 57971195 57971195 G A snp 5393.77 1/1 99 208 8 200 0.96 exonic rs11229279 OR1S2 AU synonymous SNV NM_001004459 exon1 c.C459T p.F153F 0.426717 0.752 0.300139 0.3712 0.7296 Uncertain 11_57971201_G->A 11 57971201 57971201 G A snp 5332.77 1/1 99 204 6 198 0.97 exonic rs11229280 OR1S2 AU synonymous SNV NM_001004459 exon1 c.C453T p.A151A 0.514177 0.7927 0.382176 0.4724 0.7754 Uncertain 11_57982229_A->G 11 57982229 57982229 A G snp 5250.77 1/1 99 175 0 175 1.0 exonic rs1966836 OR1S1 AU nonsynonymous SNV NM_001004458 exon1 c.A13G p.S5G 0.664936 0.8681 0.593428 0.7001 0.8705 0.33 T 0.0 P -0.993 T 0.016 T 0.008 T Pathogenic 11_57982584_T->C 11 57982584 57982584 T C snp 5620.77 1/1 99 199 1 198 0.99 exonic rs1966835 OR1S1 AU nonsynonymous SNV NM_001004458 exon1 c.T368C p.I123T 0.523163 0.8036 0.382176 0.4877 0.8046 0.03 T 0.0 P -1.040 T 0.0 T 0.002 T Pathogenic 11_57982620_A->G 11 57982620 57982620 A G snp 6038.77 1/1 99 213 0 213 1.0 exonic rs1966834 OR1S1 AU nonsynonymous SNV NM_001004458 exon1 c.A404G p.H135R 0.51877 0.8036 0.380560 0.4842 0.8046 1 T 0.001 P -0.992 T 0.0 T 0.0 T ID=CM035848;DIS=Olfactory receptor deficiency;TAG=FP;PUB=12730696 FP Pathogenic 11_57982726_G->T 11 57982726 57982726 G T snp 3635.77 1/1 99 126 0 126 1.0 exonic rs1993089 OR1S1 AU synonymous SNV NM_001004458 exon1 c.G510T p.L170L 0.523163 0.8036 0.349700 0.4870 0.8019 Uncertain 11_57982763_A->G 11 57982763 57982763 A G snp 2922.77 1/1 99 100 0 100 1.0 exonic rs1993088 OR1S1 AU nonsynonymous SNV NM_001004458 exon1 c.A547G p.N183D 0.260283 0.4776 0.7920 0.19 T 0.0 P -0.967 T 0.0 T 0.0 T Pathogenic 11_57982832_T->A 11 57982832 57982832 T A snp 5139.77 1/1 99 192 1 191 0.99 exonic rs2867400 OR1S1 AU nonsynonymous SNV NM_001004458 exon1 c.T616A p.L206M 0.52496 0.8046 0.4860 0.7971 0.09 T 0.0 P -1.018 T 0.0 T 0.0 T Pathogenic 11_57982896_G->T 11 57982896 57982896 G T snp 7161.77 1/1 99 250 4 246 0.98 exonic rs2903566 OR1S1 AU nonsynonymous SNV NM_001004458 exon1 c.G680T p.S227I 0.522364 0.8036 0.380234 0.4873 0.8043 1 T 0.0 P -0.918 T 0.0 T 0.0 T Pathogenic 11_57983194_A->G 11 57983194 57983194 A G snp 5375.77 1/1 99 197 1 196 0.99 exonic rs7103033 OR1S1 AU stoploss NM_001004458 exon1 c.A978G p.X326W 0.433506 0.7619 0.297876 0.3877 0.7563 0.0 P Uncertain 11_57996312_C->G 11 57996312 57996312 C G snp 3217.75 1/1 99 119 0 119 1.0 exonic rs4245219 OR10Q1 AU nonsynonymous SNV NM_001004471 exon1 c.G36C p.E12D 0.941294 0.9593 0.942911 0.9719 0.9504 0.61 T 0.0 P -0.896 T 0.0 T 0.0 T Pathogenic 11_58034543_C->T 11 58034543 58034543 C T snp 4028.77 1/1 99 152 0 152 1.0 exonic rs10792156 OR10W1 AU nonsynonymous SNV NM_207374 exon1 c.G788A p.R263Q 0.513578 0.6954 0.435884 0.4593 0.6722 0.07 T 0.0 P -0.899 T 0.0 T 0.001 T Pathogenic 11_58125620_T->C 11 58125620 58125620 T C snp 3732.77 1/1 99 125 0 125 1.0 exonic rs4127353 OR5B17 AU nonsynonymous SNV NM_001005489 exon1 c.A923G p.Y308C 0.730831 0.8562 0.668796 0.6870 0.8610 0.22 T 0.0 P -0.975 T 0.0 T 0.001 T Pathogenic 11_58126305_A->T 11 58126305 58126305 A T snp 3171.77 1/1 99 101 0 101 1.0 exonic rs4939208 OR5B17 AU nonsynonymous SNV NM_001005489 exon1 c.T238A p.L80I 0.716653 0.8552 0.655634 0.6794 0.8564 0.12 T 0.0 P -0.990 T 0.004 T 0.008 T Pathogenic 11_58207204_A->G 11 58207204 58207204 A G snp 5240.77 1/1 99 189 1 188 0.99 exonic rs4938895 OR5B12 AU nonsynonymous SNV NM_001004733 exon1 c.T421C p.C141R 1 1 1.0000 0.9999 0.38 T 0.000 P -0.903 T 0.0 T 0.002 T Pathogenic 11_58295749_CA->- 11 58295749 58295750 CA - indel 350.77 1/1 21 8 0 8 1.0 intronic rs35632700 LPXN AU NM_004811 exon2 c.738+85_738+86delCA 0.508586 0.6905 Uncertain 11_58318619_C->G 11 58318619 58318619 C G snp 3197.84 1/1 99 115 0 115 1.0 exonic rs1047979 LPXN AU synonymous SNV NM_001143995 exon5 c.G420C p.L140L 0.508187 0.6905 0.502848 0.5547 0.6694 Uncertain 11_58345340_G->A 11 58345340 58345340 G A snp 506.77 0/1 99 31 12 19 0.61 intronic rs3763798 LPXN AU NM_001143995 exon9 c.50565-151G>A 0.033746 0.1597 Uncertain 11_58380192_-->T 11 58380192 58380192 - T indel 289.77 1/1 21 21 1 20 0.95 ncRNA_intronic rs35224542 ZFP91-CNTF AU 0.57528 0.5903 0.581602 0.5493 0.6023 Uncertain 11_58478026_G->A 11 58478026 58478026 G A snp 3550.77 1/1 99 129 0 129 1.0 intronic rs675423 GLYAT AU NM_201648 exon2 c.824-36G>A 0.670727 0.5417 0.784021 0.7456 0.5071 Uncertain 11_58478039_T->C 11 58478039 58478039 T C snp 3897.77 1/1 99 142 0 142 1.0 intronic rs675757 GLYAT AU NM_201648 exon2 c.824-23T>C 0.671725 0.5417 0.784329 0.7456 0.5068 Uncertain 11_58478084_T->C 11 58478084 58478084 T C snp 5211.77 1/1 99 191 0 191 1.0 exonic rs675815 GLYAT AU nonsynonymous SNV NM_201648 exon5 c.A467G p.N156S 0.926518 0.8046 0.985376 0.9505 0.7757 1 T 0.0 P -0.991 T 0.0 T 0.001 T ID=CM131975;DIS=Increased activity;TAG=FP;PUB=23237781 FP Pathogenic 11_58492074_TT->- 11 58492074 58492075 TT - indel 237.77 1/1 21 13 0 13 1.0 intronic rs398016183 GLYAT AU NM_005838 exon4 c.13926+90_13926+91delTT 0.666534 0.5486 Uncertain 11_58605922_A->G 11 58605922 58605922 A G snp 1709.77 1/1 99 54 0 54 1.0 intronic rs10896850 GLYATL2 AU NM_145016 exon4 c.3940+81A>G 0.951478 1 Uncertain 11_58674952_-->T 11 58674952 58674952 - T indel 785.73 1/1 63 24 0 24 1.0 intergenic rs35731745 GLYATL2 AU 0.684505 0.6905 Uncertain 11_58715513_T->G 11 58715513 58715513 T G snp 981.77 1/1 72 31 1 30 0.97 ncRNA_intronic rs11229707 LOC283194 AU 0.453075 0.4067 Uncertain 11_58919813_A->G 11 58919813 58919813 A G snp 7515.77 1/1 99 250 0 250 1.0 exonic rs10896928 FAM111A AD synonymous SNV NM_022074 exon4 c.A672G p.A224A 0.28115 0.2917 0.254541 0.2299 0.2994 Uncertain 11_58940278_G->T 11 58940278 58940278 G T snp 413.77 1/1 33 11 0 11 1.0 exonic rs12796683 DTX4 AU synonymous SNV NM_015177 exon1 c.G210T p.T70T 0.251997 0.2679 0.196874 0.2766 0.2874 Uncertain 11_58949881_G->A 11 58949881 58949881 G A snp 3092.77 0/1 99 248 122 126 0.51 exonic rs141860745 DTX4 AU nonsynonymous SNV NM_001300727 exon2 c.G563A p.R188H 0.00379393 0.0188 0.0020 0.0246 0.15 T 1.000 D -1.125 T 0.999 D 0.987 D Pathogenic 11_58978940_C->T 11 58978940 58978940 C T snp 6054.77 1/1 99 219 0 219 1.0 exonic rs544864 MPEG1 AU nonsynonymous SNV NM_001039396 exon1 c.G1399A p.A467T 0.267772 0.2946 0.241473 0.2924 0.3398 0.16 T 0.001 P -0.985 T 0.256 T 0.055 T Pathogenic 11_59056153_C->T 11 59056153 59056153 C T snp 1722.77 0/1 99 174 92 82 0.47 intergenic rs1894123 MPEG1 AU 0.891374 0.9018 Uncertain 11_59132798_G->C 11 59132798 59132798 G C snp 2250.77 0/1 99 176 86 90 0.51 exonic rs7941190 OR5AN1 AU nonsynonymous SNV NM_001004729 exon1 c.G867C p.L289F 0.673323 0.744 0.639701 0.6880 0.7162 0.03 T 0.007 P -0.933 T 1.0 D 0.999 D Pathogenic 11_59132882_A->G 11 59132882 59132882 A G snp 1702.77 0/1 99 140 72 68 0.49 downstream rs10896964 OR5AN1 AU 0.700479 0.744 0.675220 0.7047 0.7211 Uncertain 11_59189405_T->C 11 59189405 59189405 T C snp 767.77 0/1 99 61 31 30 0.49 downstream rs9988824 OR5A2 AU 0.891573 0.9405 0.916859 0.9448 0.9379 Uncertain 11_59210550_G->A 11 59210550 59210550 G A snp 108.77 0/1 99 10 6 4 0.4 upstream rs7947825 OR5A1 AU 0.763179 0.871 Uncertain 11_59210795_A->G 11 59210795 59210795 A G snp 2849.77 0/1 99 235 119 116 0.49 exonic rs17153732 OR5A1 AU nonsynonymous SNV NM_001004728 exon1 c.A154G p.I52V 0.0359425 0.0565 0.009852 0.0321 0.0580 0.1 T 0.748 P -1.025 T 0.996 D 0.994 D Pathogenic 11_59211188_G->A 11 59211188 59211188 G A snp 2780.77 0/1 99 230 112 118 0.51 exonic rs6591536 OR5A1 AU nonsynonymous SNV NM_001004728 exon1 c.G547A p.D183N 0.635383 0.7609 0.607605 0.6600 0.7421 0.02 T 0.999 P -1.097 T 1.0 D 1.0 D Pathogenic 11_59211265_T->C 11 59211265 59211265 T C snp 2476.77 0/1 99 199 102 97 0.49 exonic rs7941591 OR5A1 AU synonymous SNV NM_001004728 exon1 c.T624C p.T208T 0.635383 0.7609 0.607682 0.6600 0.7419 Uncertain 11_59224464_G->C 11 59224464 59224464 G C snp 1313.77 0/1 99 114 59 55 0.48 exonic rs17153766 OR4D6 AU nonsynonymous SNV NM_001004708 exon1 c.G31C p.E11Q 0.0359425 0.0565 0.009852 0.0322 0.0583 0.01 T 0.000 P -0.902 T 0.228 T 0.126 T Pathogenic 11_59224720_A->G 11 59224720 59224720 A G snp 2586.77 0/1 99 213 103 110 0.52 exonic rs1453543 OR4D6 AU nonsynonymous SNV NM_001004708 exon1 c.A287G p.D96G 0.895767 0.9435 0.921028 0.9488 0.9418 1 T 0.0 P -0.968 T 0.0 T 0.0 T Pathogenic 11_59225382_G->T 11 59225382 59225382 G T snp 697.77 0/1 99 62 32 30 0.48 downstream rs116863593 OR4D6 AU 0.0359425 0.0565 0.009775 0.0339 0.0588 Uncertain 11_59245593_G->T 11 59245593 59245593 G T snp 949.77 0/1 99 73 38 35 0.48 exonic rs75898556 OR4D10 AU stopgain NM_001004705 exon1 c.G691T p.E231X 0.0770767 0.0456 0.047260 0.0433 0.0527 0.03 T 1.000 P Pathogenic 11_59344589_T->C 11 59344589 59344589 T C snp 118.77 0/1 99 12 7 5 0.42 intronic rs486952 OSBP AU NM_002556 exon2 c.449+91T>C 0.0625 0.0397 Uncertain 11_59345898_G->A 11 59345898 59345898 G A snp 913.77 0/1 99 45 13 32 0.71 intronic rs495564 OSBP AU NM_002556 exon3 c.1754+95G>A 0.185304 0.0734 Uncertain 11_59361788_T->- 11 59361788 59361788 T - indel 432.73 0/1 99 32 7 25 0.78 intronic rs3216084 OSBP AU NM_002556 exon7 c.17679+60delT 0.163139 0.0734 Uncertain 11_59368691_C->G 11 59368691 59368691 C G snp 1089.77 0/1 99 93 52 41 0.44 intronic rs55667192 OSBP AU NM_002556 exon10 c.24706-64C>G 0.185304 0.0734 Uncertain 11_59369401_A->G 11 59369401 59369401 A G snp 1772.77 1/1 99 54 1 53 0.98 intronic rs7106463 OSBP AU NM_002556 exon11 c.25262+90A>G 1 1 Uncertain 11_59423878_G->C 11 59423878 59423878 G C snp 772.77 0/1 99 59 28 31 0.53 intronic rs146548152 PATL1 AU NM_152716 exon14 c.18109-93G>C 0.000399361 0.002 Uncertain 11_59480951_T->C 11 59480951 59480951 T C snp 3832.77 1/1 99 126 0 126 1.0 exonic rs499033 OR10V1 AU nonsynonymous SNV NM_001005324 exon1 c.A368G p.Q123R 0.973842 1 0.936345 0.9376 1 1 T 1.0 P -1.012 T 0.0 T 0.0 T Pathogenic 11_59561010_G->T 11 59561010 59561010 G T snp 267.77 0/1 99 28 18 10 0.36 intronic rs75671895 STX3 AU NM_004177 exon8 c.37909+23G>T 0.0091853 0.0218 0.000231 0.0046 0.0252 Uncertain 11_59573999_C->T 11 59573999 59573999 C T snp 1957.77 0/1 99 164 82 82 0.5 exonic rs147545257 MRPL16 AU nonsynonymous SNV NM_017840 exon4 c.G577A p.G193R 0.0165735 0.0476 0.000693 0.0118 0.0540 0.02 T 1 N -1.014 T 0.028 T 0.014 T Pathogenic 11_59631338_G->A 11 59631338 59631338 G A snp 302.77 0/1 99 32 21 11 0.34 intronic rs767183406 TCN1 AU NM_001062 exon8 c.10932-41G>A 4.156e-05 0.0006 Uncertain 11_59710428_A->T 11 59710428 59710428 A T snp 96.77 0/1 99 211 181 30 0.14 ncRNA_exonic OOSP1 AU 0.04 T -0.838 T Uncertain 11_59710429_T->C 11 59710429 59710429 T C snp 96.77 0/1 99 210 180 30 0.14 ncRNA_exonic OOSP1 AU Uncertain 11_59710430_G->A 11 59710430 59710430 G A snp 96.77 0/1 99 210 180 30 0.14 ncRNA_exonic OOSP1 AU 0.1 T -0.839 T Uncertain 11_59710436_C->T 11 59710436 59710436 C T snp 87.77 0/1 99 215 184 31 0.14 ncRNA_exonic OOSP1 AU 1 T -1.051 T Uncertain 11_59710439_G->A 11 59710439 59710439 G A snp 84.77 0/1 99 216 186 30 0.14 ncRNA_exonic OOSP1 AU 0.91 T -1.026 T Uncertain 11_59710453_C->T 11 59710453 59710453 C T snp 78.77 0/1 99 222 191 31 0.14 ncRNA_exonic OOSP1 AU Uncertain 11_59710462_G->A 11 59710462 59710462 G A snp 72.77 0/1 99 225 195 30 0.13 ncRNA_exonic OOSP1 AU Uncertain 11_59710466_T->C 11 59710466 59710466 T C snp 78.77 0/1 99 223 192 31 0.14 ncRNA_exonic OOSP1 AU 0.45 T -1.001 T Uncertain 11_59710467_T->A 11 59710467 59710467 T A snp 60.77 0/1 89 224 194 30 0.13 ncRNA_exonic OOSP1 AU 0.95 T -0.977 T Uncertain 11_59710469_T->C 11 59710469 59710469 T C snp 84.77 0/1 99 218 187 31 0.14 ncRNA_exonic OOSP1 AU 0 D -0.601 T Uncertain 11_59710479_A->T 11 59710479 59710479 A T snp 78.77 0/1 99 220 188 32 0.15 ncRNA_exonic OOSP1 AU 0.26 T -0.966 T Uncertain 11_59710483_C->A 11 59710483 59710483 C A snp 87.77 0/1 99 215 185 30 0.14 ncRNA_exonic OOSP1 AU 0.99 T -0.983 T Uncertain 11_59710484_T->G 11 59710484 59710484 T G snp 90.77 0/1 99 214 183 31 0.14 ncRNA_exonic OOSP1 AU 0 D -0.858 T Uncertain 11_59829804_C->T 11 59829804 59829804 C T snp 274.77 0/1 94 12 4 8 0.67 intronic rs506053 MS4A3 AU NM_006138 exon3 c.1307-136C>T 0.68131 0.8095 Uncertain 11_59830103_A->G 11 59830103 59830103 A G snp 1212.77 0/1 99 128 74 54 0.42 intronic rs481950 MS4A3 AU NM_006138 exon3 c.1445+25A>G 0.56849 0.7034 0.516241 0.6163 0.7063 Uncertain 11_59830198_T->C 11 59830198 59830198 T C snp 293.77 0/1 99 26 15 11 0.42 intronic rs533855 MS4A3 AU NM_006138 exon3 c.1445+120T>C 0.658746 0.8095 Uncertain 11_59834298_G->C 11 59834298 59834298 G C snp 64.77 0/1 93 7 4 3 0.43 intronic rs12221875 MS4A3 AU NM_006138 exon5 c.5790-125G>C 0.28754 0.4772 Uncertain 11_59836887_A->G 11 59836887 59836887 A G snp 301.77 0/1 99 14 5 9 0.64 intronic rs2298584 MS4A3 AU NM_006138 exon6 c.8413-159A>G 0.292532 0.4772 Uncertain 11_59837577_T->A 11 59837577 59837577 T A snp 164.78 0/1 24 6 1 5 0.83 intronic rs10897003 MS4A3 AU NM_006138 exon7 c.9043-99T>A 0.288538 0.4772 Uncertain 11_59940396_A->G 11 59940396 59940396 A G snp 2084.77 1/1 99 65 0 65 1.0 intronic rs595718 MS4A6A AU NM_152852 exon2 c.870-104A>G 0.997404 1 Uncertain 11_59940400_C->T 11 59940400 59940400 C T snp 2120.77 1/1 99 67 0 67 1.0 intronic rs2044979 MS4A6A AU NM_152852 exon2 c.870-100C>T 0.997404 1 Uncertain 11_59940403_A->G 11 59940403 59940403 A G snp 2169.77 1/1 99 70 0 70 1.0 intronic rs2044978 MS4A6A AU NM_152852 exon2 c.870-97A>G 0.997404 1 Uncertain 11_59940407_A->G 11 59940407 59940407 A G snp 2348.77 1/1 99 78 0 78 1.0 intronic rs592346 MS4A6A AU NM_152852 exon2 c.870-93A>G 0.997404 1 Uncertain 11_59942757_C->T 11 59942757 59942757 C T snp 180.9 1/1 15 7 0 7 1.0 intronic rs662196 MS4A6A AU NM_152852 exon3 c.3244-117C>T 0.54353 0.62 Uncertain 11_59945564_T->G 11 59945564 59945564 T G snp 54.74 1/1 6 2 0 2 1.0 intronic rs2243987 MS4A6A AU NM_152852 exon4 c.6102-168T>G 0.909744 0.8452 Uncertain 11_59946302_C->T 11 59946302 59946302 C T snp 2731.77 1/1 99 107 0 107 1.0 intronic rs598862 MS4A6A AU NM_152852 exon4 c.6159+513C>T 0.864018 0.8452 0.9279 0.8712 Uncertain 11_59946466_T->A 11 59946466 59946466 T A snp 101.28 1/1 9 4 0 4 1.0 intronic rs587634 MS4A6A AU NM_152852 exon4 c.6159+677T>A 0.864018 0.8452 Uncertain 11_59947252_C->T 11 59947252 59947252 C T snp 2658.77 1/1 99 88 0 88 1.0 intronic rs583791 MS4A6A AU NM_152852 exon5 c.7673-51C>T 0.544728 0.62 0.555944 0.5804 0.6351 0.039 P -0.996 T Uncertain 11_59950417_A->G 11 59950417 59950417 A G snp 549.77 1/1 42 14 0 14 1.0 intronic rs646924 MS4A6A AU NM_152852 exon7 c.10820-33A>G 0.909944 0.8452 Uncertain 11_59997223_A->G 11 59997223 59997223 A G snp 336.77 0/1 99 20 9 11 0.55 intergenic rs11230202 MS4A6A AU 0.121605 0.1042 Uncertain 11_59997296_G->A 11 59997296 59997296 G A snp 1397.77 0/1 99 103 49 54 0.52 intergenic rs11230203 MS4A6A AU 0.150759 0.1042 Uncertain 11_59997335_T->C 11 59997335 59997335 T C snp 4275.77 1/1 99 159 0 159 1.0 intergenic rs608659 MS4A6A AU 0.997604 1 0.9995 0.9992 Uncertain 11_60049905_C->G 11 60049905 60049905 C G snp 679.77 1/1 51 18 0 18 1.0 intronic rs7104122 MS4A4A AU NM_148975 exon1 c.41+1716C>G 0.92472 0.8413 Uncertain 11_60050125_A->G 11 60050125 60050125 A G snp 3421.77 1/1 99 133 0 133 1.0 UTR5 rs10792260 MS4A4A AU 0.535144 0.5486 0.5111 0.6136 Uncertain 11_60060016_T->C 11 60060016 60060016 T C snp 343.77 0/1 99 17 7 10 0.59 intronic rs2044981 MS4A4A AU NM_148975 exon2 c.11709+159T>C 0.31869 0.3948 Uncertain 11_60070176_A->G 11 60070176 60070176 A G snp 2656.77 0/1 99 248 132 116 0.47 exonic rs6591561 MS4A4A AU nonsynonymous SNV NM_148975 exon5 c.A532G p.M178V 0.329073 0.3849 0.298555 0.2965 0.3701 0.62 T 0.0 P -0.953 T 0.0 T 0.0 T Pathogenic 11_60073597_C->T 11 60073597 60073597 C T snp 3741.77 1/1 99 140 0 140 1.0 exonic rs4644658 MS4A4A AU synonymous SNV NM_001243266 exon5 c.C412T p.L138L 0.926318 0.8403 0.960403 0.9713 0.8461 Uncertain 11_60073702_A->T 11 60073702 60073702 A T snp 4845.77 1/1 99 175 0 175 1.0 intronic rs3018806 MS4A4A AU NM_148975 exon6 c.25526+28A>T 1 1 1 1 Uncertain 11_60073715_T->C 11 60073715 60073715 T C snp 1767.77 0/1 99 153 77 76 0.5 intronic rs141957516 MS4A4A AU NM_148975 exon6 c.25526+41T>C 0.00239617 0.0119 0.000077 0.0006 0.0080 Uncertain 11_60102790_G->A 11 60102790 60102790 G A snp 311.78 1/1 24 9 0 9 1.0 intronic rs1443250 MS4A6E AU NM_139249 exon1 c.147+275G>A 0.667133 0.5774 Uncertain 11_60107470_C->A 11 60107470 60107470 C A snp 756.77 0/1 99 90 57 33 0.37 intronic rs2289612 MS4A6E AU NM_139249 exon3 c.5069+33C>A 0.353834 0.3948 0.405121 0.4074 0.3902 Uncertain 11_60152468_-->TTT 11 60152468 60152468 - TTT indel 627.73 1/1 36 12 0 12 1.0 intronic rs398115440 MS4A7 AU NM_021201 exon3 c.1946-92insTTT 0.188099 0.2411 0.233376 Uncertain 11_60152531_A->C 11 60152531 60152531 A C snp 2282.77 1/1 99 76 0 76 1.0 intronic rs2233244 MS4A7 AU NM_021201 exon3 c.1946-29A>C 0.186701 0.2401 0.235507 0.2314 0.2146 Uncertain 11_60163958_G->A 11 60163958 60163958 G A snp 1095.77 1/1 81 31 0 31 1.0 UTR5 rs6591579 MS4A14 AU 0.994808 1 Uncertain 11_60202747_C->A 11 60202747 60202747 C A snp 409.77 1/1 30 16 0 16 1.0 intronic rs894590 MS4A5 AU NM_023945 exon4 c.4243+1357C>A 0.9998 1 Uncertain 11_60202798_-->A 11 60202798 60202798 - A indel 377.73 1/1 45 18 0 18 1.0 intronic rs11377519 MS4A5 AU NM_023945 exon4 c.4243+1408insA 0.661741 0.5734 Uncertain 11_60230531_C->T 11 60230531 60230531 C T snp 712.77 0/1 99 66 33 33 0.5 exonic rs2070770 MS4A1 AR synonymous SNV NM_152866 exon4 c.C216T p.I72I 0.0810703 0.13 0.056897 0.0732 0.0941 Uncertain 11_60230722_G->T 11 60230722 60230722 G T snp 337.77 0/1 99 33 18 15 0.45 intronic rs10792278 MS4A1 AR NM_021950 exon3 c.747+128G>T 0.368411 0.3323 Uncertain 11_60231066_C->T 11 60231066 60231066 C T snp 44.78 0/1 27 3 1 2 0.67 intronic rs7126354 MS4A1 AR NM_021950 exon3 c.747+472C>T 0.656949 0.6389 Uncertain 11_60235683_G->T 11 60235683 60235683 G T snp 186.77 0/1 99 14 7 7 0.5 intronic rs1941031 MS4A1 AR NM_021950 exon7 c.5875-39G>T 0.0884585 0.1419 0.060288 0.0980 0.1454 Uncertain 11_60264629_C->T 11 60264629 60264629 C T snp 44.77 0/1 33 3 1 2 0.67 intronic rs7109412 MS4A12 AU 0.638978 0.6587 Uncertain 11_60264755_G->A 11 60264755 60264755 G A snp 1972.77 0/1 99 142 64 78 0.55 intronic rs2298551 MS4A12 AU 0.621805 0.6597 0.554829 0.5752 0.6341 Uncertain 11_60264947_C->T 11 60264947 60264947 C T snp 2453.77 0/1 99 220 118 102 0.46 exonic rs2298552 MS4A12 AU synonymous SNV NM_001164470 exon2 c.C156T p.Y52Y 0.615415 0.6607 0.550669 0.5729 0.6332 Uncertain 11_60265164_G->A 11 60265164 60265164 G A snp 223.77 0/1 99 17 8 9 0.53 intronic rs2298554 MS4A12 AU NM_001164470 exon2 c.276+97G>A 0.61861 0.6756 0.6131 0.6705 Uncertain 11_60268679_G->C 11 60268679 60268679 G C snp 4614.77 1/1 99 169 0 169 1.0 intronic rs2186918 MS4A12 AU NM_017716 exon3 c.3864+24G>C 0.995607 1 0.993695 0.9983 1 Uncertain 11_60268736_C->A 11 60268736 60268736 C A snp 810.77 0/1 99 80 49 31 0.39 intronic rs2298555 MS4A12 AU NM_017716 exon3 c.3864+81C>A 0.621605 0.6825 Uncertain 11_60271325_A->C 11 60271325 60271325 A C snp 963.77 0/1 99 81 42 39 0.48 intronic rs2298556 MS4A12 AU NM_001164470 exon4 c.6499+35A>C 0.0930511 0.1161 0.0785 0.0985 Uncertain 11_60285575_A->G 11 60285575 60285575 A G snp 2865.77 1/1 99 110 0 110 1.0 exonic rs10736706 MS4A13 AU nonsynonymous SNV NM_001012417 exon3 c.A19G p.I7V 0.947284 0.999 0.947409 0.9850 1 1 T 0.0 P -0.966 T 0.0 T 0.0 T Pathogenic 11_60291413_C->T 11 60291413 60291413 C T snp 1287.77 1/1 93 54 0 54 1.0 exonic rs6591595 MS4A13 AU nonsynonymous SNV NM_001012417 exon4 c.C173T p.P58L 0.728834 0.7242 0.790544 0.8185 0.7197 0.02 T 0.0 P -0.976 T 0.962 D 0.579 D Pathogenic 11_60309947_A->T 11 60309947 60309947 A T snp 440.77 1/1 33 16 0 16 1.0 intronic rs4939400 MS4A13 AU NM_001278320 exon5 c.24435-44A>T 0.943091 1 0.946156 0.9851 1 Uncertain 11_60500843_T->C 11 60500843 60500843 T C snp 83.77 0/1 67 5 2 3 0.6 intergenic rs7110684 MS4A8 AU 0.268371 0.3254 Uncertain 11_60504436_T->C 11 60504436 60504436 T C snp 754.77 0/1 99 80 42 38 0.47 intergenic rs2077227 MS4A8 AU 0.141573 0.2014 0.1555 0.2407 Uncertain 11_60511059_A->T 11 60511059 60511059 A T snp 2658.77 0/1 99 206 97 109 0.53 intergenic rs11821421 MS4A8 AU 0.235224 0.253 Uncertain 11_60531346_T->G 11 60531346 60531346 T G snp 517.77 0/1 99 56 33 23 0.41 exonic rs1032939 MS4A15 AU nonsynonymous SNV NM_001098835 exon2 c.T140G p.L47R 0.40595 0.628 0.354922 0.4597 0.6357 0.53 T 0.002 P -1.020 T 0.999 D 0.996 D Pathogenic 11_60534901_G->C 11 60534901 60534901 G C snp 1309.77 1/1 96 36 0 36 1.0 intronic rs4939450 MS4A15 AU NM_001098835 exon3 c.3799-104G>C 0.729034 0.9087 Uncertain 11_60534978_C->A 11 60534978 60534978 C A snp 1288.77 0/1 99 166 105 61 0.37 intronic rs76023487 MS4A15 AU NM_001098835 exon3 c.3799-27C>A 0.0129792 0.0476 0.0120 0.0429 Uncertain 11_60557693_T->C 11 60557693 60557693 T C snp 251.8 1/1 21 7 0 7 1.0 intronic rs474435 MS4A10 AU 0.978435 1 Uncertain 11_60559805_A->G 11 60559805 60559805 A G snp 6214.77 1/1 99 237 0 237 1.0 intronic rs931861 MS4A10 AU NM_206893 exon4 c.1986+11A>G 0.736222 0.8929 0.695248 0.7678 0.9152 Uncertain 11_60561613_C->T 11 60561613 60561613 C T snp 1522.77 1/1 99 55 0 55 1.0 intronic rs751026 MS4A10 AU NM_206893 exon5 c.3768+37C>T 0.57488 0.8522 0.444863 0.5441 0.8700 Uncertain 11_60562911_A->G 11 60562911 60562911 A G snp 139.03 1/1 12 5 0 5 1.0 intronic rs566457 MS4A10 AU NM_206893 exon6 c.5219-116A>G 0.979034 1 Uncertain 11_60563235_G->C 11 60563235 60563235 G C snp 1614.77 1/1 99 52 0 52 1.0 intronic rs4938980 MS4A10 AU NM_206893 exon6 c.5330+97G>C 0.270168 0.6448 Uncertain 11_60567230_C->T 11 60567230 60567230 C T snp 2474.77 1/1 99 89 0 89 1.0 intronic rs11230483 MS4A10 AU NM_206893 exon8 c.9492-70C>T 0.545327 0.8105 Uncertain 11_60567275_G->A 11 60567275 60567275 G A snp 3675.77 1/1 99 134 1 133 0.99 intronic rs579967 MS4A10 AU NM_206893 exon8 c.9492-25G>A 0.978435 1 0.968731 0.9915 1 Uncertain 11_60610065_G->A 11 60610065 60610065 G A snp 5456.77 1/1 99 199 0 199 1.0 exonic rs2074420 CCDC86 AU synonymous SNV NM_024098 exon1 c.G468A p.P156P 0.340855 0.6806 0.2686 0.7167 Uncertain 11_60617646_T->C 11 60617646 60617646 T C snp 7617.77 1/1 99 250 0 250 1.0 intronic rs495949 CCDC86 AU NM_024098 exon4 c.8081-32T>C 0.984625 1 0.985005 0.9958 1 Uncertain 11_60617812_C->T 11 60617812 60617812 C T snp 880.77 0/1 99 50 21 29 0.58 UTR3 rs117062491 CCDC86 AU 0.00638978 0.0288 0.0030 0.0399 Uncertain 11_60617834_C->A 11 60617834 60617834 C A snp 638.77 1/1 51 17 0 17 1.0 UTR3 rs530963 CCDC86 AU 0.678714 0.9196 0.562077 0.6245 0.9156 Uncertain 11_60620585_A->G 11 60620585 60620585 A G snp 4067.77 1/1 99 155 0 155 1.0 exonic rs2467642 PTGDR2 AU nonsynonymous SNV NM_004778 exon2 c.T611C p.V204A 0.984625 1 0.985457 0.9960 1 0.79 T 0.0 P -1.020 T 0.0 T 0.0 T Pathogenic 11_60620590_C->G 11 60620590 60620590 C G snp 4300.77 1/1 99 159 1 158 0.99 exonic rs2428461 PTGDR2 AU synonymous SNV NM_004778 exon2 c.G606C p.R202R 0.984625 1 0.985154 0.9960 1 Uncertain 11_60635091_T->C 11 60635091 60635091 T C snp 2917.77 1/1 99 105 0 105 1.0 exonic rs550479 ZP1 AR synonymous SNV NM_207341 exon1 c.T57C p.V19V 0.963259 1 0.970009 0.9910 1 Uncertain 11_60638461_C->T 11 60638461 60638461 C T snp 7783.77 1/1 99 250 0 250 1.0 exonic rs10897122 ZP1 AR synonymous SNV NM_207341 exon5 c.C858T p.F286F 0.309704 0.626 0.173716 0.2829 0.6458 Uncertain 11_60638470_A->G 11 60638470 60638470 A G snp 7875.77 1/1 99 250 0 250 1.0 exonic rs566411 ZP1 AR synonymous SNV NM_207341 exon5 c.A867G p.V289V 1 1 1 1 Uncertain 11_60669197_T->C 11 60669197 60669197 T C snp 135.03 1/1 12 4 0 4 1.0 intronic rs476182 PRPF19 AU NM_014502 exon10 c.10375+185T>C 0.932708 0.995 Uncertain 11_60689445_T->C 11 60689445 60689445 T C snp 3856.77 1/1 99 145 0 145 1.0 exonic rs555835 TMEM109 AU synonymous SNV NM_024092 exon4 c.T540C p.P180P 0.740815 0.9534 0.608966 0.6908 0.9624 Uncertain 11_60695301_C->A 11 60695301 60695301 C A snp 1048.77 1/1 78 35 0 35 1.0 exonic rs575123 TMEM132A AU synonymous SNV NM_017870 exon3 c.C504A p.A168A 0.739217 0.9514 0.624480 0.7113 0.9619 Uncertain 11_60695375_A->G 11 60695375 60695375 A G snp 258.8 1/1 21 7 0 7 1.0 intronic rs575955 TMEM132A AU NM_017870 exon3 c.3226+44A>G 0.739217 0.9514 0.632479 0.7182 0.9623 Uncertain 11_60697780_C->T 11 60697780 60697780 C T snp 126.03 1/1 12 4 0 4 1.0 intronic rs2072097 TMEM132A AU NM_017870 exon5 c.5876-201C>T 0.309105 0.625 Uncertain 11_60703076_C->T 11 60703076 60703076 C T snp 251.8 1/1 21 7 0 7 1.0 intronic rs11230522 TMEM132A AU NM_017870 exon10 c.10810+161C>T 0.311701 0.6349 Uncertain 11_60703777_G->A 11 60703777 60703777 G A snp 3233.06 1/1 99 113 0 113 1.0 exonic rs55920775 TMEM132A AU nonsynonymous SNV NM_017870 exon11 c.G2473A p.E825K 0.311102 0.6349 0.170794 0.2787 0.6544 0 D 0.0 P -1.003 T 0.005 T 0.003 T Pathogenic 11_60705454_A->G 11 60705454 60705454 A G snp 3887.77 1/1 99 136 0 136 1.0 exonic rs2905692 SLC15A3 AU synonymous SNV NM_016582 exon7 c.T1479C p.G493G 0.994209 1 0.990157 0.9978 1 1.000 P -1.048 T 0.0 T 0.002 T Likely benign 11_60750048_T->C 11 60750048 60750048 T C snp 1514.77 1/1 99 55 0 55 1.0 intronic rs2905506 CD6 AU NM_006725 exon1 c.49+10662T>C 0.871406 0.9792 0.8489 1 Uncertain 11_60750240_G->A 11 60750240 60750240 G A snp 2098.77 1/1 99 84 0 84 1.0 intronic rs3019541 CD6 AU NM_006725 exon1 c.49+10854G>A 0.839058 0.9792 Uncertain 11_60750299_TCTGCAGGGAC->- 11 60750299 60750309 TCTGCAGGGAC - indel 2053.73 1/1 45 26 0 26 1.0 intronic rs57594427 CD6 AU NM_006725 exon1 c.49+10913_49+10923delTCTGCAGGGAC 0.869409 0.9792 Uncertain 11_60775007_C->T 11 60775007 60775007 C T snp 560.77 0/1 99 50 24 26 0.52 intronic rs4939485 CD6 AU NM_006725 exon3 c.35694-24C>T 0.342652 0.5724 0.180646 0.4411 0.5909 Uncertain 11_60776306_C->T 11 60776306 60776306 C T snp 2463.77 0/1 99 177 73 104 0.59 exonic rs2074225 CD6 AU nonsynonymous SNV NM_006725 exon4 c.C770T p.A257V 0.536342 0.4067 0.548449 0.5497 0.4545 1 T 0.000 P -0.950 T 0.002 T 0.002 T ID=CM133484;DIS=Multiple sclerosis, increased risk, association with;TAG=DFP;PUB=23638056 DFP Pathogenic 11_60776334_A->G 11 60776334 60776334 A G snp 4761.77 1/1 99 170 0 170 1.0 intronic rs2905518 CD6 AU NM_006725 exon4 c.36980+17A>G 0.996605 1 0.994825 0.9985 1 Uncertain 11_60776484_T->C 11 60776484 60776484 T C snp 321.77 0/1 99 21 10 11 0.52 intronic rs2074226 CD6 AU NM_006725 exon4 c.36980+167T>C 0.335463 0.5853 Uncertain 11_60778650_-->GTGTGTGTGTGTGT 11 60778650 60778650 - GTGTGTGTGTGTGT indel 7855.73 ./1 99 161 0 161 1.0 intronic rs150035626 CD6 AU NM_006725 exon6 c.39270+43insGTGTGTGTGTGTGT 0.276558 0.4812 0.1473 0.3988 Uncertain 11_60778650_-->GTGTGTGTGTGTGTGT 11 60778650 60778650 - GTGTGTGTGTGTGTGT indel 7855.73 ./1 99 161 0 161 1.0 intronic CD6 AU NM_006725 exon6 c.39270+43insGTGTGTGTGTGTGTGT Uncertain 11_60781094_C->T 11 60781094 60781094 C T snp 446.77 0/1 99 38 19 19 0.5 intronic rs2074228 CD6 AU NM_006725 exon7 c.41698+59C>T 0.0858626 0.2103 Uncertain 11_60783108_C->T 11 60783108 60783108 C T snp 2578.77 0/1 99 196 89 107 0.55 intronic rs2074229 CD6 AU NM_006725 exon9 c.43847-76C>T 0.594649 0.8264 Uncertain 11_60783126_C->T 11 60783126 60783126 C T snp 6281.77 1/1 99 238 0 238 1.0 intronic rs3019556 CD6 AU NM_006725 exon9 c.43847-58C>T 0.996006 1 Uncertain 11_60783135_A->G 11 60783135 60783135 A G snp 6642.77 1/1 99 250 0 250 1.0 intronic rs3019557 CD6 AU NM_006725 exon9 c.43847-49A>G 0.996605 1 0.994694 0.9985 1 Uncertain 11_60784934_A->G 11 60784934 60784934 A G snp 327.77 0/1 99 37 23 14 0.38 intronic rs2074231 CD6 AU NM_006725 exon10 c.45613-16A>G 0.460663 0.1736 0.5561 0.1803 Uncertain 11_60785038_A->G 11 60785038 60785038 A G snp 1274.77 0/1 99 96 45 51 0.53 intronic rs2074232 CD6 AU NM_006725 exon10 c.45685+16A>G 0.460264 0.1736 0.651725 0.6075 0.2425 Uncertain 11_60785352_A->G 11 60785352 60785352 A G snp 1386.77 0/1 99 128 71 57 0.45 exonic rs1050922 CD6 AU synonymous SNV NM_006725 exon11 c.A1704G p.S568S 0.466853 0.1736 0.661719 0.5549 0.1701 Uncertain 11_60785464_G->A 11 60785464 60785464 G A snp 347.77 0/1 99 25 12 13 0.52 exonic rs2074233 CD6 AU nonsynonymous SNV NM_006725 exon11 c.G1816A p.G606S 0.102835 0.0972 0.181005 0.1857 0.0878 0.05 T 0.000 P -0.950 T 0.449 T 0.15 P Pathogenic 11_60890563_C->T 11 60890563 60890563 C T snp 2949.77 1/1 99 109 0 109 1.0 intronic rs4245224 CD5 AU NM_014207 exon7 c.20472+59C>T 0.652157 0.9881 Uncertain 11_60891310_T->C 11 60891310 60891310 T C snp 1346.77 1/1 99 39 0 39 1.0 intronic rs7106643 CD5 AU NM_014207 exon8 c.21323-45T>C 0.869209 0.996 0.713473 0.7317 0.9978 Uncertain 11_60892606_A->G 11 60892606 60892606 A G snp 4021.77 1/1 99 150 0 150 1.0 exonic rs637186 CD5 AU nonsynonymous SNV NM_014207 exon9 c.A1382G p.H461R 0.967851 0.997 0.936635 0.9380 0.9999 1 T 0.0 P -0.978 T 0.0 T 0.0 T Pathogenic 11_60893235_C->T 11 60893235 60893235 C T snp 6790.77 1/1 99 244 1 243 1.0 exonic rs2229177 CD5 AU nonsynonymous SNV NM_014207 exon10 c.C1412T p.A471V 0.691094 0.9881 0.512535 0.6105 0.9932 0.01 T 0.990 P -1.050 T 1.0 D 0.952 D Pathogenic 11_60899767_A->G 11 60899767 60899767 A G snp 1576.77 1/1 99 54 0 54 1.0 exonic rs754382 VPS37C AU nonsynonymous SNV NM_017966 exon5 c.T593C p.L198S 0.853235 0.9891 0.728721 0.7566 0.9937 1 T 0.0 P -0.966 T 0.0 T 0.0 T Pathogenic 11_60906450_A->G 11 60906450 60906450 A G snp 1109.77 1/1 81 32 0 32 1.0 intronic rs508970 VPS37C AU NM_017966 exon4 c.7016+143A>G 0.811302 0.995 Uncertain 11_61026131_G->A 11 61026131 61026131 G A snp 107.77 0/1 99 15 9 6 0.4 UTR3 rs183114794 VWCE AU 0.000998403 0.005 0.0002 0.0024 Uncertain 11_61039103_G->C 11 61039103 61039103 G C snp 428.77 0/1 99 35 20 15 0.43 intronic rs78735340 VWCE AU NM_152718 exon7 c.13000-43G>C 0.00519169 0.0258 0.0033 0.0413 Uncertain 11_61100308_G->C 11 61100308 61100308 G C snp 887.77 1/1 66 29 0 29 1.0 intronic rs2512810 DDB1 AU NM_001923 exon27 c.32772-71G>C 0.947085 1 Uncertain 11_61102407_G->T 11 61102407 61102407 G T snp 783.77 0/1 99 49 19 30 0.61 intronic DAK AU NM_015533 exon2 c.3+204G>T Uncertain 11_61106525_C->T 11 61106525 61106525 C T snp 821.77 1/1 60 28 0 28 1.0 intronic rs2512809 DAK AU NM_015533 exon4 c.4337-12C>T 0.77476 0.9692 0.800062 0.9136 0.9576 Uncertain 11_61106892_G->C 11 61106892 61106892 G C snp 2847.77 1/1 99 94 0 94 1.0 exonic rs2513329 DAK AU synonymous SNV NM_015533 exon5 c.G471C p.T157T 0.767572 0.9702 0.803695 0.9219 0.9596 Uncertain 11_61108974_G->A 11 61108974 61108974 G A snp 1752.77 1/1 99 61 0 61 1.0 exonic rs2260655 DAK AU nonsynonymous SNV NM_015533 exon6 c.G553A p.A185T 0.790735 0.9712 0.828742 0.8946 0.9638 0.7 T 0.0 P -0.925 T 0.35 T 0.086 T Pathogenic 11_61110169_A->C 11 61110169 61110169 A C snp 7200.77 1/1 99 246 0 246 1.0 intronic rs4939514 DAK AU NM_015533 exon9 c.7930+39A>C 0.800719 0.9712 0.828668 0.9306 0.9624 Uncertain 11_61112802_C->T 11 61112802 61112802 C T snp 3942.77 1/1 99 146 0 146 1.0 exonic rs2305465 DAK AU synonymous SNV NM_015533 exon14 c.C1311T p.V437V 0.790735 0.9712 0.820671 0.9259 0.9626 Uncertain 11_61123965_A->G 11 61123965 61123965 A G snp 511.77 1/1 39 19 0 19 1.0 intronic rs1453319 CYB561A3 AU NM_001161454 exon5 c.6131-36A>G 0.987819 0.999 0.990541 0.9955 0.9966 Uncertain 11_61165280_G->A 11 61165280 61165280 G A snp 781.77 1/1 57 28 0 28 1.0 exonic rs3741265 TMEM216 AR synonymous SNV NM_001173990 exon4 c.G264A p.P88P 0.855831 0.9762 0.832275 0.8659 0.9660 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000114238.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 11_61165731_-->A 11 61165731 61165731 - A indel 7119.73 1/1 99 158 0 158 1.0 intronic rs11382548 TMEM216 AR NM_016499 exon5 c.4330-1insA 0.855831 0.9762 0.827907 0.8593 0.9625 Uncertain 11_61165741_G->C 11 61165741 61165741 G C snp 4393.77 1/1 99 160 0 160 1.0 splicing rs10897158 TMEM216 AR NM_001173990 exon5 c.5638G>C 0.719649 0.9712 0.703880 0.8153 0.9588 0.21 T 0.001 P -0.935 T CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_multiple_submitters\x2c_no_conflicts;CLNACC=RCV000114239.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 11_61179285_G->A 11 61179285 61179285 G A snp 1131.77 1/1 81 40 0 40 1.0 exonic rs3019198 CPSF7 AU synonymous SNV NM_001136040 exon8 c.C1209T p.I403I 0.719649 0.9712 0.688279 0.8189 0.9622 Uncertain 11_61197461_C->- 11 61197461 61197461 C - indel 329.73 1/1 33 12 0 12 1.0 UTR5 rs34378918 CPSF7 AU 0.861821 0.9762 Uncertain 11_61204361_A->C 11 61204361 61204361 A C snp 1127.77 1/1 81 41 0 41 1.0 intronic rs896831 SDHAF2 AD NM_017841 exon2 c.7478-735A>C 0.867812 0.9762 0.8771 0.9412 Uncertain 11_61205434_G->A 11 61205434 61205434 G A snp 476.77 1/1 36 14 1 13 0.93 intronic rs879647 SDHAF2 AD NM_017841 exon3 c.7857-41G>A 0.718051 0.9712 0.686587 0.8195 0.9616 Uncertain 11_61205676_-->T 11 61205676 61205676 - T indel 165.5 1/1 3 26 1 25 0.96 intronic rs397723863 SDHAF2 AD NM_017841 exon3 c.7967+91insT 0.622404 0.6518 0.5786 0.6637 Uncertain 11_61249383_C->A 11 61249383 61249383 C A snp 5580.77 1/1 99 212 0 212 1.0 exonic rs3019200 PPP1R32 AU synonymous SNV NM_001170753 exon2 c.C102A p.T34T 0.775559 0.9732 0.721504 0.8139 0.9666 Uncertain 11_61253200_G->A 11 61253200 61253200 G A snp 429.77 1/1 33 14 0 14 1.0 intronic rs3019187 PPP1R32 AU NM_001170753 exon7 c.3989-70G>A 0.720048 0.9692 Uncertain 11_61253973_A->G 11 61253973 61253973 A G snp 3204.83 1/1 99 110 0 110 1.0 intronic rs2957858 PPP1R32 AU NM_001170753 exon8 c.4714-22A>G 0.720248 0.9692 0.707045 0.7949 0.9621 Uncertain 11_61254376_G->C 11 61254376 61254376 G C snp 966.77 1/1 72 24 0 24 1.0 intronic rs3019188 PPP1R32 AU NM_001170753 exon9 c.5138-43G>C 0.800319 0.9752 0.777957 0.8240 0.9668 Uncertain 11_61487690_G->A 11 61487690 61487690 G A snp 1269.77 0/1 99 107 48 59 0.55 exonic rs198430 DAGLA AU synonymous SNV NM_006133 exon2 c.G63A p.P21P 0.30012 0.4643 0.243809 0.2699 0.4500 Uncertain 11_61490245_G->A 11 61490245 61490245 G A snp 947.77 0/1 99 103 62 41 0.4 intronic rs17156254 DAGLA AU NM_006133 exon4 c.2703-85G>A 0.221246 0.1855 Uncertain 11_61491097_A->G 11 61491097 61491097 A G snp 475.77 1/1 36 15 0 15 1.0 intronic rs566009 DAGLA AU NM_006133 exon5 c.3417+53A>G 0.980631 1 Uncertain 11_61496272_A->C 11 61496272 61496272 A C snp 40.77 0/1 33 3 1 2 0.67 intronic rs198418 DAGLA AU NM_006133 exon8 c.8775-130A>C 0.30611 0.4673 Uncertain 11_61496657_C->T 11 61496657 61496657 C T snp 258.77 0/1 99 20 10 10 0.5 intronic rs198417 DAGLA AU NM_006133 exon8 c.8853+177C>T 0.30651 0.4673 Uncertain 11_61496682_A->G 11 61496682 61496682 A G snp 79.77 0/1 99 8 4 4 0.5 intronic rs198416 DAGLA AU NM_006133 exon8 c.8853+202A>G 0.30631 0.4673 Uncertain 11_61502910_C->T 11 61502910 61502910 C T snp 412.77 0/1 99 26 12 14 0.54 intronic rs740004 DAGLA AU NM_006133 exon11 c.15405-122C>T 0.25 0.1558 Uncertain 11_61503381_G->A 11 61503381 61503381 G A snp 59.74 1/1 6 3 0 3 1.0 intronic rs198446 DAGLA AU NM_006133 exon12 c.15661+93G>A 0.300719 0.4881 Uncertain 11_61505168_G->A 11 61505168 61505168 G A snp 1717.77 0/1 99 222 137 85 0.38 exonic rs198444 DAGLA AU synonymous SNV NM_006133 exon15 c.G1524A p.A508A 0.491414 0.7986 0.411706 0.4531 0.8108 Uncertain 11_61505696_G->T 11 61505696 61505696 G T snp 2999.77 0/1 99 250 117 133 0.53 intronic rs198443 DAGLA AU NM_006133 exon16 c.18052+17G>T 0.495008 0.8046 0.414398 0.4622 0.8127 Uncertain 11_61508074_C->T 11 61508074 61508074 C T snp 3378.77 0/1 99 250 104 146 0.58 intronic rs11828739 DAGLA AU NM_006133 exon18 c.20437+10C>T 0.232628 0.1508 0.193432 0.2256 0.1445 Uncertain 11_61508522_A->G 11 61508522 61508522 A G snp 315.77 0/1 91 12 3 9 0.75 intronic rs198440 DAGLA AU NM_006133 exon19 c.21006-111A>G 0.337061 0.5456 Uncertain 11_61511133_G->A 11 61511133 61511133 G A snp 1554.77 0/1 99 155 85 70 0.45 exonic rs3741251 DAGLA AU synonymous SNV NM_006133 exon20 c.G2301A p.A767A 0.180112 0.1478 0.118287 0.1955 0.1376 Uncertain 11_61522959_G->T 11 61522959 61522959 G T snp 979.77 0/1 99 74 34 40 0.54 ncRNA_intronic rs2286008 DKFZP434K028 AU 0.0541134 0.122 0.011012 0.0232 0.1259 Uncertain 11_61534872_A->C 11 61534872 61534872 A C snp 7096.77 1/1 99 248 0 248 1.0 intronic rs547589 MYRF AU NM_001127392 exon3 c.13477+1179A>C 0.72484 0.9841 0.7130 0.975 0 D 0.0 P -1.029 T Uncertain 11_61536583_G->A 11 61536583 61536583 G A snp 2201.77 1/1 99 75 0 75 1.0 intronic rs579383 MYRF AU NM_001127392 exon4 c.16515-148G>A 0.725639 0.9841 Uncertain 11_61579427_C->T 11 61579427 61579427 C T snp 214.84 1/1 18 8 0 8 1.0 intronic rs72643557 FADS1 AU NM_013402 exon10 c.10060-515C>T 0.0896565 0.4196 0.0712 0.4778 Uncertain 11_61624705_T->C 11 61624705 61624705 T C snp 2079.77 1/1 99 70 0 70 1.0 intronic rs498793 FADS2 AU NM_001281501 exon6 c.40786+162T>C 0.686901 0.9177 Uncertain 11_61624885_G->C 11 61624885 61624885 G C snp 2908.77 1/1 99 107 0 107 1.0 intronic rs526126 FADS2 AU NM_001281501 exon7 c.41168-40G>C 0.680112 0.8244 0.654976 0.8000 0.8370 Uncertain 11_61641211_A->G 11 61641211 61641211 A G snp 750.77 1/1 54 28 0 28 1.0 UTR3 rs6591665 FADS3 AU 0.988818 1 Uncertain 11_61645967_C->G 11 61645967 61645967 C G snp 1316.77 0/1 99 96 47 49 0.51 intronic rs174453 FADS3 AU NM_021727 exon8 c.4698-16C>G 0.232029 0.3046 0.141824 0.2222 0.3088 Uncertain 11_61647427_T->G 11 61647427 61647427 T G snp 241.77 0/1 99 35 24 11 0.31 intronic rs174635 FADS3 AU NM_021727 exon11 c.6227-85T>G 0.499401 0.6796 Uncertain 11_61658629_T->C 11 61658629 61658629 T C snp 811.77 0/1 99 100 63 37 0.37 intronic rs693672 FADS3 AU NM_021727 exon12 c.17355-11T>C 0.697284 0.6954 0.787734 0.7480 0.6497 Uncertain 11_61658800_C->T 11 61658800 61658800 C T snp 696.77 0/1 99 53 25 28 0.53 exonic rs174465 FADS3 AU synonymous SNV NM_021727 exon1 c.G54A p.A18A 0.471645 0.6875 0.646471 0.6308 0.7176 Uncertain 11_61669946_G->A 11 61669946 61669946 G A snp 1323.77 0/1 99 138 77 61 0.44 exonic rs3815045 RAB3IL1 AU nonsynonymous SNV NM_001271686 exon7 c.C889T p.H297Y 0.144369 0.3264 0.018313 0.1204 0.3611 1 T 0.987 P -0.940 T 0.007 T 0.007 T Pathogenic 11_61671956_A->G 11 61671956 61671956 A G snp 4624.77 1/1 99 176 0 176 1.0 intronic rs174472 RAB3IL1 AU NM_013401 exon4 c.6268-61A>G 0.537939 0.8542 Uncertain 11_61672235_T->C 11 61672235 61672235 T C snp 1353.77 0/1 99 120 71 49 0.41 exonic rs174473 RAB3IL1 AU synonymous SNV NM_001271686 exon5 c.A699G p.T233T 0.350439 0.378 0.265014 0.3456 0.4125 Uncertain 11_61672265_T->C 11 61672265 61672265 T C snp 1043.77 0/1 99 100 60 40 0.4 exonic rs174474 RAB3IL1 AU synonymous SNV NM_001271686 exon5 c.A669G p.R223R 0.313698 0.3353 0.243501 0.3135 0.3726 Uncertain 11_61687454_G->A 11 61687454 61687454 G A snp 1741.77 0/1 99 137 60 77 0.56 intronic rs11230827 RAB3IL1 AU NM_001271686 exon9 c.21763-58G>A 0.191893 0.1637 Uncertain 11_61687674_G->A 11 61687674 61687674 G A snp 490.77 0/1 99 50 29 21 0.42 UTR5 rs2524290 RAB3IL1 AU 0.308906 0.6111 0.3033 0.5556 Uncertain 11_61719387_T->C 11 61719387 61719387 T C snp 2677.77 1/1 99 102 0 102 1.0 exonic rs1800007 BEST1 AU,AD synonymous SNV NM_004183 exon2 c.T109C p.L37L 0.680511 0.8978 0.447316 0.4847 0.9087 CLINSIG=untested|non-pathogenic;CLNDBN=not_provided|not_specified;CLNREVSTAT=no_assertion_provided|criteria_provided\x2c_single_submitter;CLNACC=RCV000086084.1|RCV000152861.2;CLNDSDB=MedGen|MedGen;CLNDSDBID=CN221809|CN169374 Uncertain 11_61722645_C->A 11 61722645 61722645 C A snp 3767.77 1/1 99 127 1 126 0.99 exonic rs1109748 BEST1 AU,AD synonymous SNV NM_004183 exon3 c.C219A p.I73I 0.317492 0.6498 0.076527 0.2024 0.6794 CLINSIG=untested|non-pathogenic;CLNDBN=not_provided|not_specified;CLNREVSTAT=no_assertion_provided|criteria_provided\x2c_single_submitter;CLNACC=RCV000086102.1|RCV000152862.2;CLNDSDB=MedGen|MedGen;CLNDSDBID=CN221809|CN169374 Uncertain 11_61722838_T->A 11 61722838 61722838 T A snp 50.74 1/1 6 2 0 2 1.0 intronic rs195165 BEST1 AU,AD NM_001139443 exon2 c.67+165T>A 0.908946 0.999 Uncertain 11_61723556_A->G 11 61723556 61723556 A G snp 94.28 1/1 9 3 0 3 1.0 intronic rs195164 BEST1 AU,AD NM_001139443 exon3 c.817+133A>G 0.909145 0.999 Uncertain 11_61724292_C->T 11 61724292 61724292 C T snp 6395.77 1/1 99 247 1 246 1.0 intronic rs760306 BEST1 AU,AD NM_001139443 exon4 c.1709-23C>T 0.562899 0.8631 0.339486 0.4035 0.8765 Uncertain 11_61724514_C->T 11 61724514 61724514 C T snp 834.77 1/1 63 22 0 22 1.0 intronic rs195162 BEST1 AU,AD NM_001139443 exon4 c.1864+44C>T 0.861222 0.999 0.833872 0.9050 0.9985 Uncertain 11_61725599_-->TCCTCCTCC 11 61725599 61725599 - TCCTCCTCC indel 7499.73 1/1 99 67 0 67 1.0 intronic rs113492158 BEST1 AU,AD NM_001139443 exon6 c.3011-18insTCCTCCTCC CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000152865.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Likely pathogenic 11_61726871_G->T 11 61726871 61726871 G T snp 852.77 1/1 63 24 0 24 1.0 intronic rs195158 BEST1 AU,AD NM_001139443 exon7 c.4363-98G>T 0.797724 0.9692 Uncertain 11_61730234_T->C 11 61730234 61730234 T C snp 5790.77 1/1 99 193 0 193 1.0 exonic rs1800009 BEST1 AU,AD synonymous SNV NM_004183 exon10 c.T1608C p.T536T 0.591454 0.8552 0.399323 0.4583 0.8573 CLINSIG=untested|non-pathogenic;CLNDBN=not_provided|not_specified;CLNREVSTAT=no_assertion_provided|criteria_provided\x2c_single_submitter;CLNACC=RCV000086090.1|RCV000152856.2;CLNDSDB=MedGen|MedGen;CLNDSDBID=CN221809|CN169374 Uncertain 11_61731534_G->T 11 61731534 61731534 G T snp 2030.77 1/1 99 70 0 70 1.0 intronic rs195155 BEST1 AU,AD NM_004183 exon11 c.12297-41G>T 0.996406 1 0.995308 0.9986 0.9999 Uncertain 11_61735553_-->GCTGCAGATTGGGAA 11 61735553 61735553 - GCTGCAGATTGGGAA indel 9618.73 1/1 99 70 0 70 1.0 upstream rs11271453 FTH1 AD 0.994209 0.9921 0.9958 1 Uncertain 11_61897688_C->T 11 61897688 61897688 C T snp 2321.77 0/1 99 221 126 95 0.43 exonic rs369605966 INCENP AU nonsynonymous SNV NM_001040694 exon4 c.C689T p.S230F 0.000077 0.0002 0.0017 0.08 T 1 N -1.070 T 0.893 T 0.44 P Pathogenic 11_61914260_G->A 11 61914260 61914260 G A snp 1534.77 1/1 99 56 1 55 0.98 exonic rs116873148 INCENP AU nonsynonymous SNV NM_020238 exon14 c.G2078A p.R693Q 0.1877 0.495 0.055190 0.1754 0.5397 0.51 T 0.036 P -0.983 T 0.99 D 0.776 D Pathogenic 11_61958022_C->T 11 61958022 61958022 C T snp 180.9 1/1 15 5 0 5 1.0 intronic rs7932927 SCGB1D1 AU NM_006552 exon1 c.55+211C>T 0.476038 0.7609 Uncertain 11_61960763_-->C 11 61960763 61960763 - C indel 2848.73 1/1 99 69 0 69 1.0 intronic rs11441356 SCGB1D1 AU NM_006552 exon3 c.3114-107insC 0.666534 0.7976 Uncertain 11_61960809_C->A 11 61960809 61960809 C A snp 2975.77 1/1 99 114 0 114 1.0 intronic rs7951859 SCGB1D1 AU NM_006552 exon3 c.3114-61C>A 0.634784 0.7976 0.634253 Uncertain 11_61960827_T->C 11 61960827 61960827 T C snp 3197.05 1/1 99 120 0 120 1.0 intronic rs2232941 SCGB1D1 AU NM_006552 exon3 c.3114-43T>C 0.634784 0.7966 0.628673 0.7185 0.8091 Uncertain 11_61977859_TTTTTTT->- 11 61977859 61977865 TTTTTTT - indel 1036.73 0/1 99 24 8 16 0.67 intronic rs201416395 SCGB2A1 AU NM_002407 exon2 c.1681-25_1681-19delTTTTTTT 0.833267 0.9603 0.4070 0.4831 Uncertain 11_62009611_C->T 11 62009611 62009611 C T snp 298.77 0/1 99 22 10 12 0.55 upstream rs2232946 SCGB1D2 AU 0.232029 0.3929 Uncertain 11_62010863_C->T 11 62010863 62010863 C T snp 3010.77 0/1 99 234 99 135 0.58 exonic rs2232950 SCGB1D2 AU nonsynonymous SNV NM_006551 exon2 c.C158T p.P53L 0.471046 0.7927 0.296262 0.4181 0.7962 0.31 T 0.0 P -0.944 T 0.897 T 0.3 P Pathogenic 11_62037583_G->A 11 62037583 62037583 G A snp 1643.77 0/1 99 146 77 69 0.47 upstream rs11603383 SCGB2A2 AU 0.148962 0.1399 Uncertain 11_62063899_-->A 11 62063899 62063899 - A indel 1235.73 0/1 99 118 58 60 0.51 intronic rs139093257 SCGB1D4 AU NM_206998 exon1 c.10+8insA 0.28155 0.3413 0.3462 0.2992 Uncertain 11_62064841_T->C 11 62064841 62064841 T C snp 555.77 0/1 99 46 24 22 0.48 intronic rs4477443 SCGB1D4 AU NM_206998 exon2 c.1062-102T>C 0.281749 0.3423 Uncertain 11_62064844_G->C 11 62064844 62064844 G C snp 624.77 0/1 99 49 25 24 0.49 intronic rs4280004 SCGB1D4 AU NM_206998 exon2 c.1062-99G>C 0.281749 0.3423 Uncertain 11_62105391_C->T 11 62105391 62105391 C T snp 687.77 1/1 51 24 0 24 1.0 UTR5 rs2513749 ASRGL1 AU 0.86861 0.9901 Uncertain 11_62105611_C->T 11 62105611 62105611 C T snp 860.77 0/1 99 80 44 36 0.45 exonic rs142016448 ASRGL1 AU synonymous SNV NM_001083926 exon2 c.C162T p.A54A 0.00239617 0.0119 0.0015 0.0178 Uncertain 11_62123717_G->A 11 62123717 62123717 G A snp 477.77 0/1 99 31 15 16 0.52 intronic rs2463837 ASRGL1 AU NM_001083926 exon3 c.18347-79G>A 0.26897 0.3621 Uncertain 11_62158886_G->T 11 62158886 62158886 G T snp 791.77 0/1 99 63 32 31 0.49 intronic rs2958531 ASRGL1 AU NM_001083926 exon6 c.53544-107G>T 0.757788 0.6379 Uncertain 11_62158924_C->T 11 62158924 62158924 C T snp 1185.77 0/1 99 103 52 51 0.5 intronic rs2958532 ASRGL1 AU NM_001083926 exon6 c.53544-69C>T 0.670927 0.6319 Uncertain 11_62159481_T->A 11 62159481 62159481 T A snp 581.77 0/1 99 52 26 26 0.5 intronic rs17157218 ASRGL1 AU NM_001083926 exon7 c.54101-69T>A 0.00838658 0.0397 Uncertain 11_62189879_T->C 11 62189879 62189879 T C snp 963.77 0/1 99 71 33 38 0.54 exonic rs760802019 SCGB1A1 AU nonsynonymous SNV NM_003357 exon2 c.T242C p.M81T 5.061e-05 0.0006 1 T 1 N -0.926 T 0.001 T 0.004 T Pathogenic 11_62190448_C->G 11 62190448 62190448 C G snp 2376.77 0/1 99 246 141 105 0.43 intronic rs11231085 SCGB1A1 AU NM_003357 exon3 c.3963-82C>G 0.248802 0.2123 Uncertain 11_62259282_G->C 11 62259282 62259282 G C snp 1234.77 0/1 99 133 77 56 0.42 exonic rs147937945 AHNAK AU nonsynonymous SNV NM_024060 exon5 c.C364G p.L122V 0.00159744 0.0069 0.0012 0.0108 0.49 T 1 D -1.056 T 0.155 T 0.064 T Pathogenic 11_62292882_G->T 11 62292882 62292882 G T snp 7444.77 1/1 99 250 0 250 1.0 exonic rs566144 AHNAK AU nonsynonymous SNV NM_001620 exon5 c.C9007A p.Q3003K 1 1 1 1 1 T 0.000 P -1.013 T 0.0 T 0.0 T Pathogenic 11_62293913_T->G 11 62293913 62293913 T G snp 2508.77 0/1 99 192 91 101 0.53 exonic rs140514299 AHNAK AU nonsynonymous SNV NM_001620 exon5 c.A7976C p.D2659A 0.00219649 0.0099 0.0011 0.0101 0.02 T 0.998 D -1.175 T 0.999 D 0.995 D Pathogenic 11_62293948_G->A 11 62293948 62293948 G A snp 6434.77 1/1 99 211 0 211 1.0 exonic rs486903 AHNAK AU synonymous SNV NM_001620 exon5 c.C7941T p.S2647S 0.473043 0.3046 0.558299 0.6638 0.2871 Uncertain 11_62365665_G->A 11 62365665 62365665 G A snp 1224.77 1/1 93 35 0 35 1.0 intronic rs2849031 MTA2 AU NM_004739 exon13 c.4267+52G>A 0.737021 0.9474 0.612899 0.6939 0.9353 Uncertain 11_62371773_A->C 11 62371773 62371773 A C snp 1769.77 1/1 99 52 0 52 1.0 intronic rs2516633 EML3 AU NM_153265 exon6 c.1727+100A>C 0.783347 0.9474 Uncertain 11_62380732_T->C 11 62380732 62380732 T C snp 314.78 1/1 24 10 0 10 1.0 UTR5 rs4387351 ROM1 AR,AD 0.936901 1 0.940022 0.9803 0.9998 Uncertain 11_62381106_G->C 11 62381106 62381106 G C snp 3150.77 1/1 99 113 1 112 0.99 exonic rs1799959 ROM1 AR,AD nonsynonymous SNV NM_000327 exon1 c.G353C p.G118A 0.935304 1 0.938471 0.9822 0.9999 1 T 0.0 P -0.932 T 0.0 T 0.001 T CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000153845.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 11_62383715_G->C 11 62383715 62383715 G C snp 448.77 1/1 36 23 0 23 1.0 intronic rs12794886 B3GAT3 AR NM_001288723 exon1 c.39+3G>C 0.775759 0.9365 0.6111 0.7727 Uncertain 11_62383844_A->G 11 62383844 62383844 A G snp 356.77 0/1 99 35 16 19 0.54 intronic B3GAT3 AR NM_001288723 exon1 c.39+132A>G Uncertain 11_62384869_T->C 11 62384869 62384869 T C snp 4330.77 1/1 99 161 0 161 1.0 intronic rs4963224 B3GAT3 AR NM_012200 exon3 c.1647+50T>C 0.995407 1 0.994463 0.9984 1 Uncertain 11_62397177_C->G 11 62397177 62397177 C G snp 2947.77 1/1 99 107 0 107 1.0 intronic rs948683 GANAB AD NM_198335 exon10 c.3870+21C>G 0.95647 1 0.955007 0.9866 1 Uncertain 11_62401620_C->T 11 62401620 62401620 C T snp 126.03 1/1 12 4 0 4 1.0 intronic rs11231168 GANAB AD NM_198335 exon20 c.8495-161C>T 0.316893 0.2421 Uncertain 11_62401716_A->G 11 62401716 62401716 A G snp 1049.77 1/1 75 37 0 37 1.0 intronic rs2957121 GANAB AD NM_198335 exon20 c.8495-65A>G 0.944089 1 0.952694 Uncertain 11_62402393_G->A 11 62402393 62402393 G A snp 1776.77 0/1 99 184 102 82 0.45 exonic rs2276296 GANAB AD nonsynonymous SNV NM_001278192 exon2 c.C118T p.R40W 0.0107827 0.0536 0.000154 0.0049 0.0666 0.01 T 1 N -0.666 T 0.952 T 0.339 D Pathogenic 11_62430659_T->A 11 62430659 62430659 T A snp 1550.77 1/1 99 59 0 59 1.0 intronic rs597259 C11orf98 AU NM_001286086 exon1 c.110+28T>A 0.766174 0.9385 0.681511 0.7351 0.9217 0 D 0.0 P -1.064 T Uncertain 11_62434217_C->T 11 62434217 62434217 C T snp 2221.77 0/1 99 201 107 94 0.47 exonic rs199842069 METTL12 AU synonymous SNV NM_001043229 exon3 c.C417T p.H139H 0.000599042 0.003 0.0004 0.0060 Uncertain 11_62437647_G->C 11 62437647 62437647 G C snp 56.74 1/1 6 2 0 2 1.0 intronic rs489778 LBHD1 AU NM_024099 exon6 c.6913+134G>C 0.7502 0.9385 Uncertain 11_62438819_G->T 11 62438819 62438819 G T snp 1945.77 1/1 99 75 0 75 1.0 intronic rs693698 LBHD1 AU NM_024099 exon7 c.8435-216G>T 0.751797 0.9385 0.7664 0.9406 Uncertain 11_62439569_G->A 11 62439569 62439569 G A snp 1208.77 1/1 87 43 0 43 1.0 exonic rs13941 UQCC3 AR nonsynonymous SNV NM_001085372 exon2 c.G265A p.G89S 0.749401 0.9385 0.679591 0.7586 0.9284 0.22 T 0.0 P -1.026 T 0.078 T 0.013 T Pathogenic 11_62459994_A->G 11 62459994 62459994 A G snp 1969.77 1/1 99 58 0 58 1.0 ncRNA_intronic rs2850597 HNRNPUL2-BSCL2 AU 0.749401 0.7589 0.730503 0.7756 0.7709 Uncertain 11_62460066_T->C 11 62460066 62460066 T C snp 1912.77 1/1 99 72 0 72 1.0 ncRNA_intronic rs2850596 HNRNPUL2-BSCL2 AU 0.747204 0.7609 Uncertain 11_62462216_A->T 11 62462216 62462216 A T snp 336.77 0/1 99 52 36 16 0.31 ncRNA_intronic rs752195952 HNRNPUL2-BSCL2 AU 2.008e-05 0 Uncertain 11_62487362_C->G 11 62487362 62487362 C G snp 93.28 1/1 9 3 0 3 1.0 ncRNA_intronic rs528616 HNRNPUL2-BSCL2 AU 0.959665 1 Uncertain 11_62488916_-->G 11 62488916 62488916 - G indel 1279.73 1/1 99 35 0 35 1.0 ncRNA_intronic rs11449262 HNRNPUL2-BSCL2 AU 0.698882 0.7609 0.5765 0.5674 Uncertain 11_62489267_C->T 11 62489267 62489267 C T snp 3748.77 1/1 99 136 0 136 1.0 ncRNA_intronic rs496032 HNRNPUL2-BSCL2 AU 0.747404 0.7619 0.733322 0.7724 0.7709 Uncertain 11_62494744_G->A 11 62494744 62494744 G A snp 149.77 0/1 99 9 4 5 0.56 ncRNA_exonic rs191708968 HNRNPUL2-BSCL2 AU 0.00179712 0.0089 Uncertain 11_62496151_C->T 11 62496151 62496151 C T snp 2284.77 0/1 99 182 85 97 0.53 UTR5 TTC9C AU 0 D 1 N -0.574 T 0.983 D 0.773 D Uncertain 11_62533798_G->A 11 62533798 62533798 G A snp 1337.77 0/1 99 113 53 60 0.53 intronic rs139234333 POLR2G AU NM_002696 exon7 c.4628+50G>A 0.00539137 0.0268 0.0017 0.0236 Uncertain 11_62555242_A->G 11 62555242 62555242 A G snp 1513.77 1/1 99 45 0 45 1.0 intronic rs2241908 TMEM179B AU NM_199337 exon1 c.96+243A>G 0.395966 0.4514 Uncertain 11_62563353_G->A 11 62563353 62563353 G A snp 2489.77 1/1 99 88 1 87 0.99 intronic rs539465 NXF1 AU NM_006362 exon5 c.3425-19G>A 0.975439 1 0.969538 0.9918 1 Uncertain 11_62650253_G->- 11 62650253 62650253 G - indel 1346.73 0/1 99 79 39 40 0.51 intronic rs79118350 SLC3A2 AU NM_002394 exon6 c.26638-126delG 0.17472 0.253 Uncertain 11_62652063_A->G 11 62652063 62652063 A G snp 3664.77 1/1 99 138 0 138 1.0 intronic rs489381 SLC3A2 AU NM_002394 exon8 c.28362-40A>G 0.774161 0.8204 0.809894 0.8466 0.8327 Uncertain 11_62652779_C->T 11 62652779 62652779 C T snp 1648.77 0/1 99 127 58 69 0.54 exonic rs4726 SLC3A2 AU synonymous SNV NM_001013251 exon6 c.C949T p.L317L 0.126198 0.2014 0.172796 0.1793 0.1973 0.000 P -1.025 T Likely benign 11_62678581_G->A 11 62678581 62678581 G A snp 551.77 0/1 99 35 15 20 0.57 UTR5 rs768947856 CHRM1 AU 3.505e-05 0.0002 Uncertain 11_62744899_A->G 11 62744899 62744899 A G snp 601.77 1/1 45 16 0 16 1.0 intronic rs3017670 SLC22A6 AU NM_004790 exon2 c.594+40A>G 0.845647 0.8065 0.880681 0.8385 0.8306 Uncertain 11_62747145_A->G 11 62747145 62747145 A G snp 1900.77 1/1 99 67 0 67 1.0 intronic rs3017671 SLC22A6 AU NM_004790 exon4 c.2940-60A>G 0.996406 1 Uncertain 11_62748289_A->G 11 62748289 62748289 A G snp 148.77 0/1 99 11 5 6 0.55 intronic rs4149174 SLC22A6 AU NM_004790 exon5 c.4191-167A>G 0.346446 0.4206 Uncertain 11_62761161_C->T 11 62761161 62761161 C T snp 3021.77 0/1 99 249 115 134 0.54 intronic rs2187384 SLC22A8 AU NM_001184733 exon2 c.391+62C>T 0.132388 0.2659 Uncertain 11_62766431_A->T 11 62766431 62766431 A T snp 2913.77 0/1 99 197 77 120 0.61 exonic rs2276299 SLC22A8 AU synonymous SNV NM_001184736 exon4 c.T354A p.T118T 0.186102 0.2718 0.133944 0.1835 0.2510 Uncertain 11_62768113_C->G 11 62768113 62768113 C G snp 851.77 0/1 99 50 19 31 0.62 intronic rs4149182 SLC22A8 AU NM_001184733 exon9 c.7483-78C>G 0.260982 0.3036 Uncertain 11_62782278_C->T 11 62782278 62782278 C T snp 949.77 0/1 99 116 70 46 0.4 exonic rs4149180 SLC22A8 AU synonymous SNV NM_001184732 exon2 c.G153A p.P51P 0.190695 0.0446 0.185105 0.0786 0.0573 Uncertain 11_62847453_T->C 11 62847453 62847453 T C snp 2469.77 1/1 99 90 0 90 1.0 exonic rs7945121 SLC22A24 AU nonsynonymous SNV NM_001136506 exon10 c.A1618G p.I540V 0.754193 0.8234 0.747043 0.7741 0.8232 0.3 T 0.000 P -1.008 T 0.001 T 0.002 T Pathogenic 11_62847562_G->T 11 62847562 62847562 G T snp 135.03 1/1 12 4 0 4 1.0 intronic rs7926818 SLC22A24 AU NM_001136506 exon1 c.61+90G>T 0.753594 0.8224 Uncertain 11_62848367_A->C 11 62848367 62848367 A C snp 297.78 1/1 24 9 0 9 1.0 intronic rs10897341 SLC22A24 AU NM_001136506 exon2 c.980-24A>C 0.964457 0.9276 0.986859 0.9867 0.9332 Uncertain 11_62848445_A->G 11 62848445 62848445 A G snp 226.77 0/1 99 35 25 10 0.29 exonic rs11231340 SLC22A24 AU synonymous SNV NM_001136506 exon9 c.T1545C p.L515L 0.44369 0.4196 0.478099 0.5037 0.4426 Uncertain 11_62848487_A->C 11 62848487 62848487 A C snp 1181.77 1/1 84 46 0 46 1.0 exonic rs11231341 SLC22A24 AU stopgain NM_001136506 exon9 c.T1503G p.Y501X 0.753994 0.8234 0.746605 0.7737 0.8219 1 T 1.000 P Pathogenic 11_62848568_C->G 11 62848568 62848568 C G snp 368.77 0/1 99 50 34 16 0.32 exonic rs11231342 SLC22A24 AU synonymous SNV NM_001136506 exon9 c.G1422C p.V474V 0.44369 0.4196 0.478099 0.4915 0.4281 Uncertain 11_62848995_G->C 11 62848995 62848995 G C snp 3082.77 1/1 99 112 1 111 0.99 intronic rs6591733 SLC22A24 AU NM_001136506 exon3 c.1618-34G>C 0.903355 0.9276 0.9626 0.9357 Uncertain 11_62850684_C->T 11 62850684 62850684 C T snp 231.77 0/1 99 13 5 8 0.62 intronic rs4963356 SLC22A24 AU NM_001136506 exon4 c.3303-30C>T 0.440495 0.4177 0.468230 0.4931 0.4373 Uncertain 11_62863518_A->G 11 62863518 62863518 A G snp 2579.77 0/1 99 249 136 113 0.45 exonic rs7113279 SLC22A24 AU nonsynonymous SNV NM_001136506 exon6 c.T1015C p.S339P 0.486821 0.504 0.495620 0.5056 0.4968 0.01 T 0.0 P -0.933 T 0.11 T 0.028 T Pathogenic 11_62871460_C->T 11 62871460 62871460 C T snp 213.77 0/1 99 19 10 9 0.47 intronic rs12283166 SLC22A24 AU NM_001136506 exon6 c.24235-186C>T 0.486422 0.503 Uncertain 11_62871896_C->A 11 62871896 62871896 C A snp 135.03 1/1 12 5 0 5 1.0 intronic rs1954993 SLC22A24 AU NM_001136506 exon6 c.24359+126C>A 0.725839 0.8889 Uncertain 11_62886319_G->C 11 62886319 62886319 G C snp 1717.77 1/1 99 61 0 61 1.0 exonic rs948060 SLC22A24 AU nonsynonymous SNV NM_173586 exon4 c.C895G p.L299V 0.779353 0.8919 0.8212 0.8794 0.65 T 0.0 P -0.993 T Pathogenic 11_62886609_A->T 11 62886609 62886609 A T snp 1501.77 0/1 99 114 51 63 0.55 intronic rs10897367 SLC22A24 AU NM_173586 exon2 c.408-43A>T 0.231829 0.3552 0.183968 0.2722 0.3633 Uncertain 11_62886800_G->C 11 62886800 62886800 G C snp 1054.77 0/1 99 86 39 47 0.55 exonic rs4963245 SLC22A24 AU nonsynonymous SNV NM_001136506 exon3 c.C514G p.R172G 0.163738 0.0317 0.255804 0.2646 0.0240 0 D 0.0 P -0.902 T 1.0 D 1.0 D Pathogenic 11_62902172_A->C 11 62902172 62902172 A C snp 2856.77 1/1 99 114 0 114 1.0 exonic rs1939782 SLC22A24 AU synonymous SNV NM_001136506 exon2 c.T471G p.L157L 0.991813 1 0.993430 0.9983 1 Uncertain 11_62910849_T->C 11 62910849 62910849 T C snp 3046.77 1/1 99 107 0 107 1.0 splicing rs1939749 SLC22A24 AU NM_173586 exon4 c.24605T>C 0.753994 0.8899 0.734341 0.8401 0.9184 1.000 P Pathogenic 11_62911079_G->C 11 62911079 62911079 G C snp 3983.77 1/1 99 128 0 128 1.0 exonic rs1939748 SLC22A24 AU nonsynonymous SNV NM_001136506 exon1 c.C173G p.T58S 0.753994 0.8899 0.734122 0.8307 0.9162 0.21 T 0.001 P -1.079 T 1.0 D 0.999 D Pathogenic 11_62933774_C->G 11 62933774 62933774 C G snp 1010.77 0/1 99 78 37 41 0.53 intronic rs2226866 SLC22A25 AU NM_199352 exon3 c.2435+44C>G 0.243211 0.4435 0.177566 0.2619 0.4059 Uncertain 11_62951064_C->A 11 62951064 62951064 C A snp 4426.77 1/1 99 153 0 153 1.0 intronic rs1525072 SLC22A25 AU NM_199352 exon5 c.19870-101C>A 0.995407 1 Uncertain 11_62995875_G->A 11 62995875 62995875 G A snp 1856.77 1/1 99 63 0 63 1.0 intronic rs7106186 SLC22A25 AU NM_199352 exon8 c.64637-57G>A 0.928315 1 Uncertain 11_63057925_G->A 11 63057925 63057925 G A snp 6985.77 1/1 99 250 0 250 1.0 exonic rs1790218 SLC22A10 AU stopgain NM_001039752 exon1 c.G288A p.W96X 0.433506 0.4692 0.479381 0.5158 0.4220 1 T 1.000 P Pathogenic 11_63064823_T->C 11 63064823 63064823 T C snp 5396.77 1/1 99 204 0 204 1.0 exonic rs576641 SLC22A10 AU synonymous SNV NM_001039752 exon3 c.T555C p.I185I 0.559305 0.4692 0.638264 0.5853 0.4241 Uncertain 11_63064970_T->G 11 63064970 63064970 T G snp 5060.77 1/1 99 183 1 182 0.99 intronic rs575009 SLC22A10 AU NM_001039752 exon3 c.7292+41T>G 0.597644 0.4692 0.686760 0.6166 0.4243 Uncertain 11_63066667_T->C 11 63066667 63066667 T C snp 218.84 1/1 18 6 0 6 1.0 intronic rs1723213 SLC22A10 AU NM_001039752 exon5 c.8878+152T>C 0.435104 0.4692 Uncertain 11_63066671_A->G 11 63066671 63066671 A G snp 182.9 1/1 15 5 0 5 1.0 intronic rs1783634 SLC22A10 AU NM_001039752 exon5 c.8878+156A>G 0.4375 0.4692 Uncertain 11_63066903_T->C 11 63066903 63066903 T C snp 1436.77 1/1 99 43 0 43 1.0 intronic rs515213 SLC22A10 AU NM_001039752 exon6 c.9348-82T>C 0.573682 0.4692 Uncertain 11_63067138_T->G 11 63067138 63067138 T G snp 3218.75 1/1 99 112 3 109 0.97 intronic rs513338 SLC22A10 AU NM_001039752 exon6 c.9464+37T>G 0.559305 0.4692 0.635149 0.6009 0.4443 Uncertain 11_63069715_A->G 11 63069715 63069715 A G snp 417.77 1/1 33 11 0 11 1.0 intronic rs557658 SLC22A10 AU NM_001039752 exon7 c.12163-85A>G 0.572883 0.4692 Uncertain 11_63071863_T->C 11 63071863 63071863 T C snp 139.03 1/1 12 4 0 4 1.0 intronic rs505653 SLC22A10 AU NM_001039752 exon8 c.14051+175T>C 0.574081 0.4692 Uncertain 11_63072310_C->T 11 63072310 63072310 C T snp 4771.77 1/1 99 169 1 168 0.99 exonic rs1201559 SLC22A10 AU nonsynonymous SNV NM_001039752 exon9 c.C1547T p.P516L 0.437899 0.4702 0.481377 0.5190 0.4239 0.01 T 1.000 P -0.947 T 1.0 D 0.999 D Pathogenic 11_63129782_A->G 11 63129782 63129782 A G snp 2152.77 1/1 99 74 0 74 1.0 intergenic rs517655 SLC22A10 AU 0.564896 0.4702 Uncertain 11_63129876_T->G 11 63129876 63129876 T G snp 4290.77 1/1 99 153 1 152 0.99 intergenic rs516763 SLC22A10 AU 0.997604 0.9891 0.9991 0.9875 Uncertain 11_63138482_G->A 11 63138482 63138482 G A snp 2426.77 1/1 99 77 0 77 1.0 intronic rs566456 SLC22A9 AU NM_080866 exon2 c.1078-124G>A 0.552516 0.4683 Uncertain 11_63175800_A->G 11 63175800 63175800 A G snp 949.77 0/1 99 79 47 32 0.41 intronic rs7109920 SLC22A9 AU NM_080866 exon8 c.38164+108A>G 0.596046 0.8413 Uncertain 11_63176367_G->A 11 63176367 63176367 G A snp 592.77 0/1 99 49 27 22 0.45 intronic rs4088469 SLC22A9 AU NM_080866 exon9 c.38823+16G>A 0.534944 0.8413 0.328820 0.3717 0.8231 Uncertain 11_63177242_-->T 11 63177242 63177242 - T indel 2816.73 0/1 99 240 133 107 0.45 intronic rs398075986 SLC22A9 AU NM_080866 exon10 c.39745-31insT 0.533946 0.8433 0.3798 0.8261 Uncertain 11_63258416_T->C 11 63258416 63258416 T C snp 3195.8 1/1 99 124 0 124 1.0 exonic rs10897424 HRASLS5 AU nonsynonymous SNV NM_001146728 exon1 c.A91G p.S31G 0.984225 1 0.983978 0.9959 1 0.0 P -1.055 T 0.0 T 0.0 T Pathogenic 11_63274120_G->C 11 63274120 63274120 G C snp 246.77 0/1 99 20 11 9 0.45 intronic rs12272556 LGALS12 AU NM_001142536 exon1 c.135+121G>C 0.253594 0.1012 Uncertain 11_63278621_C->G 11 63278621 63278621 C G snp 1553.77 0/1 99 145 83 62 0.43 intronic rs2239679 LGALS12 AU NM_033101 exon6 c.4713+44C>G 0.302316 0.1825 0.388137 0.4595 0.2066 Uncertain 11_63313644_T->C 11 63313644 63313644 T C snp 1754.77 1/1 99 65 0 65 1.0 exonic rs584905 RARRES3 AU synonymous SNV NM_004585 exon4 c.T411C p.V137V 1 1 0.999920 1.0000 1 Uncertain 11_63320239_A->G 11 63320239 63320239 A G snp 100.77 0/1 99 8 4 4 0.5 downstream rs1554656 HRASLS2 AU 0.332468 0.7014 Uncertain 11_63357919_C->T 11 63357919 63357919 C T snp 3789.77 1/1 99 122 0 122 1.0 intronic rs593759 PLA2G16 AU NM_007069 exon2 c.15424+79C>T 0.996605 1 Uncertain 11_63381350_G->C 11 63381350 63381350 G C snp 256.8 1/1 21 7 0 7 1.0 intronic rs2030727 PLA2G16 AU NM_007069 exon4 c.39055-121G>C 0.920927 1 Uncertain 11_63402869_-->A 11 63402869 63402869 - A indel 940.73 0/1 99 80 38 42 0.53 intronic rs3832716 ATL3 AD NM_015459 exon4 c.6215-136insA 0.383387 0.7877 Uncertain 11_63413963_AAAT->- 11 63413963 63413966 AAAT - indel 2127.73 1/1 96 33 0 33 1.0 intronic rs147319344 ATL3 AD NM_015459 exon8 c.17188-15_17188-12delAAAT 0.772364 0.997 0.737220 0.8404 0.9963 Uncertain 11_63439016_A->G 11 63439016 63439016 A G snp 227.77 0/1 99 21 12 9 0.43 UTR5 rs77262689 ATL3 AD 0.00938498 0.0407 Uncertain 11_63487386_T->C 11 63487386 63487386 T C snp 4176.77 1/1 99 152 0 152 1.0 exonic rs542998 RTN3 AU nonsynonymous SNV NM_001265589 exon3 c.T1412C p.V471A 0.737021 0.9921 0.692645 0.7936 0.9886 0.26 T 0.069 P -1.012 T 0.004 T 0.006 T ID=CM1211071;DIS=Severe malaria, increased risk;TAG=DP;PUB=23144702 DP Pathogenic 11_63585804_C->A 11 63585804 63585804 C A snp 6731.77 1/1 99 239 0 239 1.0 exonic rs643634 C11orf84 AU synonymous SNV NM_138471 exon3 c.C574A p.R192R 0.392572 0.6944 0.355208 0.4479 0.6943 Uncertain 11_63657494_G->A 11 63657494 63657494 G A snp 88.28 1/1 9 3 0 3 1.0 intronic rs4980528 MARK2 AU NM_004954 exon2 c.55652-5136G>A 0.527756 0.8819 Uncertain 11_63668557_C->T 11 63668557 63668557 C T snp 2083.77 1/1 99 71 0 71 1.0 intronic rs224174 MARK2 AU NM_004954 exon11 c.61563+16C>T 0.988618 1 0.987381 0.9965 1 Uncertain 11_63670387_C->G 11 63670387 63670387 C G snp 1610.77 1/1 99 40 0 40 1.0 intronic rs1486936 MARK2 AU NM_004954 exon13 c.63276+133C>G 0.656949 0.9216 Uncertain 11_63673604_TG->- 11 63673604 63673605 TG - indel 296.76 1/1 22 22 1 21 0.95 intronic rs766629067 MARK2 AU NM_001163296 exon16 c.66608+18_66608+19delTG 0.51897 0.8522 0.4217 0.6659 Uncertain 11_63676313_-->C 11 63676313 63676313 - C indel 1680.73 1/1 99 53 0 53 1.0 intronic rs397937116 MARK2 AU NM_004954 exon17 c.69370-35insC 0.52496 0.8829 0.422077 0.5733 0.8837 Uncertain 11_63679369_T->C 11 63679369 63679369 T C snp 185.9 1/1 15 7 0 7 1.0 exonic rs320108 RCOR2 AU nonsynonymous SNV NM_173587 exon12 c.A1540G p.T514A 0.946286 1 0.9938 1 1 T 0.0 P -0.946 T 0.0 T 0.0 T Pathogenic 11_63680045_C->A 11 63680045 63680045 C A snp 3109.77 0/1 99 250 124 126 0.5 intronic rs320109 RCOR2 AU NM_173587 exon2 c.670+39C>A 0.345248 0.1329 0.420976 0.4058 0.1204 Uncertain 11_63680297_A->G 11 63680297 63680297 A G snp 8105.77 1/1 99 250 0 250 1.0 intronic rs320110 RCOR2 AU NM_173587 exon4 c.1005-44A>G 0.862021 0.9623 0.870576 0.9609 0.9483 Uncertain 11_63681513_T->C 11 63681513 63681513 T C snp 3261.77 1/1 99 118 0 118 1.0 exonic rs10897461 RCOR2 AU synonymous SNV NM_173587 exon8 c.A804G p.E268E 0.976438 1 0.975685 0.9931 1 Uncertain 11_63681648_G->A 11 63681648 63681648 G A snp 2522.77 1/1 99 83 0 83 1.0 intronic rs4980533 RCOR2 AU NM_173587 exon5 c.2305+7G>A 0.528355 0.8829 0.450062 0.5616 0.8889 Uncertain 11_63682312_G->C 11 63682312 63682312 G C snp 5583.77 1/1 99 214 0 214 1.0 intronic rs4375445 RCOR2 AU NM_173587 exon8 c.2952+24G>C 0.86262 0.9623 0.865115 0.9601 0.9482 Uncertain 11_63682315_C->G 11 63682315 63682315 C G snp 5397.77 1/1 99 207 0 207 1.0 intronic rs34212439 RCOR2 AU NM_173587 exon8 c.2952+27C>G 0.86262 0.9623 0.9600 0.9482 Uncertain 11_63682318_G->C 11 63682318 63682318 G C snp 5487.77 1/1 99 206 0 206 1.0 intronic rs11231638 RCOR2 AU NM_173587 exon8 c.2952+30G>C 0.789936 0.9563 0.7064 0.8973 Uncertain 11_63682869_A->G 11 63682869 63682869 A G snp 816.77 1/1 63 25 0 25 1.0 intronic rs3802941 RCOR2 AU NM_173587 exon10 c.3394+139A>G 0.533746 0.8839 Uncertain 11_63706441_-->A 11 63706441 63706441 - A indel 134.27 0/1 1 7 1 6 0.86 upstream rs376507315 NAA40 AU Uncertain 11_63706843_T->C 11 63706843 63706843 T C snp 56.74 1/1 6 2 0 2 1.0 UTR5 rs4980510 NAA40 AU 0.976637 1 Uncertain 11_63713239_G->A 11 63713239 63713239 G A snp 829.77 1/1 63 27 0 27 1.0 intronic rs3740636 NAA40 AU NM_024771 exon2 c.6743-72G>A 0.586262 0.8671 Uncertain 11_63719621_C->A 11 63719621 63719621 C A snp 334.78 1/1 27 9 0 9 1.0 intronic rs11607028 NAA40 AU NM_024771 exon4 c.13141-88C>A 0.589058 0.8661 Uncertain 11_63720086_T->G 11 63720086 63720086 T G snp 4163.77 1/1 99 137 0 137 1.0 intronic rs4980513 NAA40 AU NM_024771 exon5 c.13469+49T>G 0.976637 1 0.977685 0.9932 1 Uncertain 11_63884453_C->T 11 63884453 63884453 C T snp 2251.77 0/1 99 176 87 89 0.51 exonic rs3751120 FLRT1 AU synonymous SNV NM_013280 exon2 c.C714T p.R238R 0.353035 0.5377 0.215990 0.1850 0.5387 Uncertain 11_63884474_C->T 11 63884474 63884474 C T snp 2353.77 0/1 99 167 77 90 0.54 exonic rs3751121 FLRT1 AU synonymous SNV NM_013280 exon2 c.C735T p.S245S 0.116214 0.4782 0.011773 0.0670 0.4907 Uncertain 11_63885632_A->G 11 63885632 63885632 A G snp 7000.77 1/1 99 247 0 247 1.0 exonic rs4379854 FLRT1 AU synonymous SNV NM_013280 exon2 c.A1893G p.E631E 0.954273 1 0.950446 0.9867 1 Uncertain 11_63885769_C->T 11 63885769 63885769 C T snp 1743.77 0/1 99 105 35 70 0.67 UTR3 rs688241 FLRT1 AU 0.0752796 0.0456 0.056138 0.0817 0.0409 Uncertain 11_63953121_G->T 11 63953121 63953121 G T snp 77.77 0/1 63 7 2 5 0.71 UTR5 rs3751122 STIP1 AU 0.205871 0.4891 Uncertain 11_63963378_T->G 11 63963378 63963378 T G snp 400.77 0/1 99 35 17 18 0.51 intronic rs2701539 STIP1 AU NM_001282653 exon5 c.9552+93T>G 0.0728834 0.0466 Uncertain 11_63964657_C->T 11 63964657 63964657 C T snp 80.77 0/1 96 7 4 3 0.43 intronic rs2236648 STIP1 AU NM_001282653 exon6 c.11009-85C>T 0.385583 0.3105 Uncertain 11_63967770_C->G 11 63967770 63967770 C G snp 1286.77 0/1 99 125 74 51 0.41 splicing rs11231722 STIP1 AU NM_001282653 exon10 c.14032+5C>G 0.385583 0.3105 0.393967 0.4093 0.3214 Pathogenic 11_63970625_G->A 11 63970625 63970625 G A snp 2547.77 0/1 99 207 100 107 0.52 exonic rs2070232 STIP1 AU synonymous SNV NM_001282652 exon12 c.G1452A p.A484A 0.0692891 0.0456 0.053940 0.0786 0.0400 Uncertain 11_63979162_C->T 11 63979162 63979162 C T snp 593.77 0/1 99 69 39 30 0.43 exonic rs17851033 FERMT3 AR synonymous SNV NM_031471 exon6 c.C729T p.A243A 0.0726837 0.0466 0.056017 0.0791 0.0395 Uncertain 11_63986992_C->T 11 63986992 63986992 C T snp 1680.77 0/1 99 144 70 74 0.51 splicing rs59250939 FERMT3 AR NM_031471 exon8 c.12159-3C>T 0.072484 0.0526 0.051759 0.1210 0.0785 Pathogenic 11_63988045_G->A 11 63988045 63988045 G A snp 2478.77 0/1 99 200 91 109 0.55 exonic rs3802932 FERMT3 AR synonymous SNV NM_031471 exon12 c.G1449A p.P483P 0.165335 0.4762 0.070369 0.1304 0.5327 0.18 T 0.989 P -1.057 T Likely benign 11_63988340_G->A 11 63988340 63988340 G A snp 654.77 0/1 63 21 3 18 0.86 intronic rs1544538 FERMT3 AR NM_031471 exon13 c.13651-147G>A 0.0742812 0.0536 Uncertain 11_63990505_C->G 11 63990505 63990505 C G snp 2141.77 0/1 99 193 106 87 0.45 intronic rs78324705 FERMT3 AR NM_031471 exon14 c.15683-14C>G 0.072484 0.0526 0.053863 0.0791 0.0416 Uncertain 11_63990997_C->- 11 63990997 63990997 C - indel 916.73 0/1 99 52 21 31 0.6 UTR3 rs5792315 FERMT3 AR 0.533410 0.5153 0.4207 Uncertain 11_63993287_C->T 11 63993287 63993287 C T snp 1356.77 0/1 99 119 66 53 0.45 exonic rs11549691 TRPT1 AU nonsynonymous SNV NM_001160393 exon1 c.G46A p.G16S 0.0738818 0.0526 0.049757 0.0943 0.0945 0.25 T 0.005 P -1.078 T 0.166 T 0.149 T Pathogenic 11_63993534_G->C 11 63993534 63993534 G C snp 172.9 1/1 15 7 0 7 1.0 splicing rs2429457 TRPT1 AU NM_001160390 exon8 c.2187G>C 0.955671 1 Pathogenic 11_63994692_T->C 11 63994692 63994692 T C snp 4649.77 1/1 99 162 0 162 1.0 intronic rs1860368 NUDT22 AU NM_001128613 exon2 c.480+88T>C 0.695887 0.7381 0.7571 0.7318 0.0 P Uncertain 11_63994696_T->C 11 63994696 63994696 T C snp 4578.77 1/1 99 161 0 161 1.0 intronic rs2429456 NUDT22 AU NM_001128613 exon2 c.480+92T>C 1 1 1 1 0.02 T 0.0 P -1.032 T Uncertain 11_63995302_C->G 11 63995302 63995302 C G snp 436.77 1/1 33 12 0 12 1.0 intronic rs2429455 NUDT22 AU NM_032344 exon3 c.1014+164C>G 0.716454 0.752 Uncertain 11_63997329_A->G 11 63997329 63997329 A G snp 1946.77 1/1 99 69 0 69 1.0 exonic rs633561 NUDT22 AU nonsynonymous SNV NM_001128613 exon5 c.A680G p.Q227R 0.94389 0.9861 0.941828 0.9792 0.9781 0.88 T 0.0 P -0.987 T 0.0 T 0.001 T Pathogenic 11_63997338_T->C 11 63997338 63997338 T C snp 2074.77 1/1 99 74 0 74 1.0 exonic rs633557 NUDT22 AU nonsynonymous SNV NM_001128613 exon5 c.T689C p.L230P 0.953474 1 0.951754 0.9868 1 0.26 T 0.449 P -1.065 T 0.0 T 0.001 T Pathogenic 11_63997567_A->- 11 63997567 63997567 A - indel 194.73 0/1 36 37 6 31 0.84 upstream;downstream rs10708923 DNAJC4;NUDT22 UN 0.424321 0.4623 0.4119 0.3944 Uncertain 11_63997883_T->- 11 63997883 63997883 T - indel 808.73 1/1 83 41 1 40 0.98 intronic rs11311686 DNAJC4 AU 0.680911 0.7093 0.4999 0.5245 Uncertain 11_63999529_C->T 11 63999529 63999529 C T snp 3603.77 1/1 99 128 0 128 1.0 intronic rs3741403 DNAJC4 AU NM_005528 exon3 c.1110+93C>T 0.422125 0.6458 Uncertain 11_64004558_AGAGAGAGAGAGAGAG->- 11 64004558 64004573 AGAGAGAGAGAGAGAG - indel 871.87 1/1 15 5 0 5 1.0 intronic rs67110559 VEGFB AU NM_003377 exon5 c.2353-100_2353-85delAGAGAGAGAGAGAGAG Uncertain 11_64004643_C->G 11 64004643 64004643 C G snp 656.77 0/1 99 60 31 29 0.48 intronic rs12294913 VEGFB AU NM_003377 exon5 c.2353-15C>G 0.203075 0.4593 0.109495 0.1188 0.4835 Uncertain 11_64011441_T->C 11 64011441 64011441 T C snp 2063.77 1/1 99 81 0 81 1.0 exonic rs654573 FKBP2 AU synonymous SNV NM_001135208 exon6 c.T369C p.G123G 0.976837 1 0.979609 0.9943 0.9997 Uncertain 11_64012225_G->C 11 64012225 64012225 G C snp 1359.77 1/1 99 40 0 40 1.0 UTR3 rs605187 PPP1R14B AU 0.953474 1 0.9869 1 Uncertain 11_64012950_G->- 11 64012950 64012950 G - indel 123.87 1/1 15 9 0 9 1.0 intronic rs57467371 PPP1R14B AU NM_138689 exon3 c.534+191delG Uncertain 11_64021821_C->T 11 64021821 64021821 C T snp 4261.77 1/1 99 155 0 155 1.0 intronic rs2302263 PLCB3 AU NM_000932 exon2 c.2765-65C>T 0.259385 0.5387 Uncertain 11_64022459_A->G 11 64022459 64022459 A G snp 3664.77 1/1 99 137 1 136 0.99 exonic rs632439 PLCB3 AU synonymous SNV NM_001184883 exon2 c.A135G p.P45P 0.953874 1 0.953755 0.9871 1 Uncertain 11_64023752_G->C 11 64023752 64023752 G C snp 152.9 1/1 15 5 0 5 1.0 intronic rs599908 PLCB3 AU NM_001184883 exon7 c.4726-95G>C 0.660144 0.8016 Uncertain 11_64026219_C->T 11 64026219 64026219 C T snp 6655.77 1/1 99 235 0 235 1.0 intronic rs2244621 PLCB3 AU NM_001184883 exon9 c.7064+34C>T 0.28095 0.5387 0.173746 0.2123 0.5418 Uncertain 11_64027468_T->C 11 64027468 64027468 T C snp 80.77 0/1 99 6 3 3 0.5 intronic rs28395878 PLCB3 AU NM_001184883 exon12 c.8379-32T>C 0.0740815 0.0546 0.051939 0.0784 0.0399 Uncertain 11_64030944_T->C 11 64030944 64030944 T C snp 1871.77 1/1 99 65 0 65 1.0 intronic rs2510067 PLCB3 AU NM_001184883 exon18 c.11848-25T>C 0.958866 1 0.961602 0.9826 1 Uncertain 11_64033748_T->C 11 64033748 64033748 T C snp 1811.77 0/1 99 188 106 82 0.44 intronic rs28395880 PLCB3 AU NM_001184883 exon26 c.14665-38T>C 0.0742812 0.0546 0.053247 0.0758 0.0400 Uncertain 11_64034911_G->A 11 64034911 64034911 G A snp 489.77 0/1 99 69 43 26 0.38 exonic rs28395877 PLCB3 AU synonymous SNV NM_001184883 exon29 c.G3387A p.P1129P 0.120208 0.4861 0.011897 0.1048 0.5861 Uncertain 11_64052306_T->G 11 64052306 64052306 T G snp 3222.65 1/1 99 129 0 129 1.0 UTR5 rs652611 GPR137 AU 0.959065 1 Uncertain 11_64066859_G->A 11 64066859 64066859 G A snp 1220.77 1/1 90 40 0 40 1.0 exonic rs2232417 KCNK4 AU synonymous SNV NM_033310 exon7 c.G843A p.T281T 0.791733 0.9177 0.882029 0.9359 0.9270 0 D 0.607 P -0.986 T 0.043 T 0.005 T Likely benign 11_64066999_C->T 11 64066999 64066999 C T snp 7119.77 1/1 99 250 1 249 1.0 exonic rs953778 KCNK4 AU nonsynonymous SNV NM_033310 exon7 c.C983T p.P328L 0.280751 0.5437 0.162954 0.2132 0.5526 0.03 T 0.000 P -0.928 T 0.036 T 0.01 T Pathogenic 11_64071158_T->G 11 64071158 64071158 T G snp 89.77 0/1 99 53 43 10 0.19 intronic TEX40 AU NM_001039496 exon4 c.3362-86T>G Uncertain 11_64082437_C->T 11 64082437 64082437 C T snp 1267.77 1/1 90 45 0 45 1.0 intronic rs650008 ESRRA AU NM_001282451 exon6 c.7821-35C>T 0.805312 0.9157 0.874512 0.9339 0.9213 Uncertain 11_64083252_T->C 11 64083252 64083252 T C snp 62.77 0/1 91 68 59 9 0.13 exonic rs72924126 ESRRA AU synonymous SNV NM_004451 exon7 c.T1086C p.Y362Y 0.0201 0.0197 1 D -0.378 T Likely benign 11_64083269_G->A 11 64083269 64083269 G A snp 98.77 0/1 99 62 51 11 0.18 exonic rs201336331 ESRRA AU nonsynonymous SNV NM_004451 exon7 c.G1103A p.G368D 0.0212 0.0205 0 D 0.990 D 0.720 D 0.919 T 0.459 D Pathogenic 11_64083276_A->T 11 64083276 64083276 A T snp 113.77 0/1 99 61 48 13 0.21 exonic rs200055490 ESRRA AU synonymous SNV NM_004451 exon7 c.A1110T p.G370G 0.0175 0.0180 1 D -0.940 T Likely benign 11_64083290_G->A 11 64083290 64083290 G A snp 118.77 0/1 99 57 46 11 0.19 exonic rs150848359 ESRRA AU nonsynonymous SNV NM_004451 exon7 c.G1124A p.R375Q 0.0090 0.0125 0.11 T 0.967 D -0.281 T 0.626 T 0.019 P ID=COSM1746432;OCCURENCE=2(urinary_tract) Pathogenic 11_64083293_G->T 11 64083293 64083293 G T snp 121.77 0/1 99 50 39 11 0.22 exonic rs201971362 ESRRA AU nonsynonymous SNV NM_004451 exon7 c.G1127T p.R376L 0.0081 0.0123 0.56 T 0.989 D 0.708 D 0.955 T 0.589 D ID=COSM1746433;OCCURENCE=4(urinary_tract) Pathogenic 11_64083300_G->A 11 64083300 64083300 G A snp 139.77 0/1 99 41 30 11 0.27 exonic rs199950340 ESRRA AU synonymous SNV NM_004451 exon7 c.G1134A p.A378A 0.0083 0.0122 1 D -0.998 T ID=COSM1746434;OCCURENCE=4(urinary_tract) Likely benign 11_64083318_G->A 11 64083318 64083318 G A snp 131.77 0/1 99 32 22 10 0.31 exonic rs764319344 ESRRA AU synonymous SNV NM_004451 exon7 c.G1152A p.T384T 0.0314 0.0424 1 D -0.945 T Likely benign 11_64083320_T->C 11 64083320 64083320 T C snp 107.77 0/1 99 32 22 10 0.31 exonic rs201072913 ESRRA AU nonsynonymous SNV NM_004451 exon7 c.T1154C p.L385P 0.0316 0.0421 0 D 1 D 0.391 D 1.0 D 1.0 D Pathogenic 11_64083328_C->T 11 64083328 64083328 C T snp 145.77 0/1 99 29 18 11 0.38 exonic rs79204587 ESRRA AU nonsynonymous SNV NM_004451 exon7 c.C1162T p.L388F 0.0457 0.0713 0.03 T 1 D 0.203 D 1.0 D 1.0 D Pathogenic 11_64083331_C->T 11 64083331 64083331 C T snp 142.77 0/1 99 28 18 10 0.36 exonic rs80310817 ESRRA AU nonsynonymous SNV NM_004451 exon7 c.C1165T p.R389C 0.0517 0.0841 0 D 1 D 0.195 D 1.0 D 0.995 D Pathogenic 11_64085063_G->C 11 64085063 64085063 G C snp 2853.77 0/1 99 234 115 119 0.51 UTR5 rs4930698 TRMT112 AU 0.0736821 0.0516 Uncertain 11_64085074_T->A 11 64085074 64085074 T A snp 6205.77 1/1 99 231 0 231 1.0 UTR5 rs550819 TRMT112 AU 0.958866 1 Uncertain 11_64085785_A->G 11 64085785 64085785 A G snp 2677.77 1/1 99 101 1 100 0.99 exonic rs7938623 PRDX5 AU nonsynonymous SNV NM_012094 exon1 c.A98G p.Y33C 0.938898 1 0.935017 0.9832 1 0.18 T 0.0 P -0.954 T 0.045 T 0.017 T Pathogenic 11_64085938_T->C 11 64085938 64085938 T C snp 1912.77 1/1 99 70 0 70 1.0 intronic rs7941847 PRDX5 AU NM_012094 exon1 c.171+80T>C 0.958866 1 Uncertain 11_64088435_A->G 11 64088435 64088435 A G snp 2985.77 1/1 99 114 1 113 0.99 intronic rs566049 PRDX5 AU NM_012094 exon5 c.2791-43A>G 0.958866 1 0.957602 0.9888 1 Uncertain 11_64110348_T->G 11 64110348 64110348 T G snp 235.84 1/1 18 10 0 10 1.0 intronic rs11602301 CCDC88B AU NM_032251 exon10 c.2414+196T>G 0.961462 1 Uncertain 11_64110955_G->- 11 64110955 64110955 G - indel 10645.7 1/1 99 243 2 241 0.99 intronic rs61354326 CCDC88B AU NM_032251 exon12 c.3240-23delG 0.283347 0.5387 0.188123 0.1794 0.5066 Uncertain 11_64116843_A->C 11 64116843 64116843 A C snp 616.77 1/1 45 22 0 22 1.0 exonic rs1318165 CCDC88B AU nonsynonymous SNV NM_032251 exon15 c.A2657C p.D886A 0.961861 1 0.960277 0.9898 1 0.98 T 0.371 P -0.960 T 0.002 T 0.002 T Pathogenic 11_64117284_G->A 11 64117284 64117284 G A snp 797.77 1/1 57 29 0 29 1.0 intronic rs4930155 CCDC88B AU NM_032251 exon16 c.9402+144G>A 0.577476 0.751 Uncertain 11_64118422_G->C 11 64118422 64118422 G C snp 425.77 1/1 33 12 0 12 1.0 intronic rs614047 CCDC88B AU NM_032251 exon17 c.10893-209G>C 0.961861 1 Uncertain 11_64120435_T->C 11 64120435 64120435 T C snp 1097.77 1/1 81 39 0 39 1.0 intronic rs489419 CCDC88B AU NM_032251 exon20 c.12621+76T>C 1 1 Uncertain 11_64127881_T->G 11 64127881 64127881 T G snp 4473.77 1/1 99 163 0 163 1.0 intronic rs564687 RPS6KA4 AU NM_001006944 exon3 c.1146+28T>G 0.967252 1 0.966641 0.9903 1 Uncertain 11_64333296_A->G 11 64333296 64333296 A G snp 378.77 1/1 30 12 0 12 1.0 intronic rs1783811 SLC22A11 AU NM_018484 exon6 c.9338+487A>G 0.721046 0.6716 Uncertain 11_64359274_C->T 11 64359274 64359274 C T snp 1553.77 0/1 99 120 57 63 0.53 exonic rs3825017 SLC22A12 AR synonymous SNV NM_144585 exon1 c.C246T p.N82N 0.0706869 0.2956 0.003309 0.0323 0.2681 Uncertain 11_64361042_G->A 11 64361042 64361042 G A snp 3014.77 0/1 99 235 116 119 0.51 intronic rs75786299 SLC22A12 AR NM_144585 exon3 c.2003+11G>A 0.00239617 0.0109 0.0009 0.0123 ID=CS1010476;DIS=Hyperuricaemia, association with;TAG=DFP;PUB=21211204 DFP Uncertain 11_64367325_A->G 11 64367325 64367325 A G snp 2991.77 1/1 99 104 1 103 0.99 exonic rs1630320 SLC22A12 AR synonymous SNV NM_144585 exon7 c.A1248G p.A416A 0.976837 1 0.976282 0.9929 1 Uncertain 11_64367736_A->G 11 64367736 64367736 A G snp 1275.77 0/1 99 99 41 58 0.59 intronic rs7929627 SLC22A12 AR NM_144585 exon8 c.8810-102A>G 0.398163 0.5129 Uncertain 11_64367862_T->C 11 64367862 64367862 T C snp 1679.77 0/1 99 146 75 71 0.49 exonic rs7932775 SLC22A12 AR synonymous SNV NM_144585 exon8 c.T1309C p.L437L 0.397364 0.5129 0.318819 0.3033 0.4912 Uncertain 11_64368428_C->T 11 64368428 64368428 C T snp 776.77 0/1 99 71 38 33 0.46 intronic rs11231837 SLC22A12 AR NM_144585 exon9 c.9382+18C>T 0.324081 0.5119 0.254463 0.2438 0.4690 Uncertain 11_64402695_T->C 11 64402695 64402695 T C snp 74.77 0/1 99 7 4 3 0.43 intronic rs61884406 NRXN2 AU NM_015080 exon6 c.28075-47T>C 0.320088 0.5129 0.234294 0.2413 0.4695 Uncertain 11_64402947_A->G 11 64402947 64402947 A G snp 1931.77 0/1 99 181 94 87 0.48 intronic rs188646006 NRXN2 AU NM_015080 exon6 c.28257+23A>G 0.00119808 0.006 0.0003 0.0044 Uncertain 11_64419217_T->G 11 64419217 64419217 T G snp 373.77 0/1 99 22 11 11 0.5 intronic rs502571 NRXN2 AU NM_015080 exon10 c.44441+109T>G 0.391573 0.5129 Uncertain 11_64419218_T->C 11 64419218 64419218 T C snp 360.77 0/1 99 22 11 11 0.5 intronic rs502567 NRXN2 AU NM_015080 exon10 c.44441+110T>C 0.391573 0.5129 Uncertain 11_64435906_C->T 11 64435906 64435906 C T snp 632.77 0/1 99 68 36 32 0.47 intronic rs2285340 NRXN2 AU NM_015080 exon16 c.61247-8C>T 0.0621006 0.253 0.002616 0.0298 0.2262 Uncertain 11_64465403_T->C 11 64465403 64465403 T C snp 354.77 0/1 99 27 14 13 0.48 intronic rs471618 NRXN2 AU NM_015080 exon21 c.90597+139T>C 0.395567 0.5129 Uncertain 11_64480308_C->T 11 64480308 64480308 C T snp 216.84 1/1 18 6 0 6 1.0 intronic rs2666560 NRXN2 AU NM_015080 exon22 c.105774-133C>T 0.71865 0.8115 Uncertain 11_64480641_G->A 11 64480641 64480641 G A snp 1603.77 0/1 99 110 40 70 0.64 exonic rs2518907 NRXN2 AU synonymous SNV NM_015080 exon2 c.C531T p.G177G 0.533546 0.5407 0.684400 0.7243 0.5347 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000117854.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 11_64496357_G->T 11 64496357 64496357 G T snp 295.77 0/1 99 40 26 14 0.35 exonic rs2230414 RASGRP2 AR synonymous SNV NM_153819 exon15 c.C1749A p.G583G 0.185903 0.3284 0.103493 0.1473 0.3557 Uncertain 11_64496587_T->C 11 64496587 64496587 T C snp 2163.77 1/1 99 83 0 83 1.0 intronic rs559977 RASGRP2 AR NM_001098670 exon3 c.1741+73T>C 0.907947 1 Uncertain 11_64497161_C->T 11 64497161 64497161 C T snp 1411.77 1/1 99 57 0 57 1.0 intronic rs534221 RASGRP2 AR NM_001098670 exon4 c.2460-72C>T 0.963259 1 0.969339 Uncertain 11_64497185_-->A 11 64497185 64497185 - A indel 274.73 0/1 99 59 36 23 0.39 intronic rs34152691 RASGRP2 AR NM_001098670 exon4 c.2460-48insA 0.113818 0.1915 0.1239 0.2717 Uncertain 11_64497189_A->C 11 64497189 64497189 A C snp 861.77 0/1 99 63 24 39 0.62 intronic rs533515 RASGRP2 AR NM_001098670 exon4 c.2460-44A>C 0.00239617 0.001 0.765928 0.7763 0.6469 Uncertain 11_64503179_A->G 11 64503179 64503179 A G snp 1001.77 1/1 75 31 0 31 1.0 intronic rs553618 RASGRP2 AR NM_001098670 exon7 c.8363+43A>G 0.911142 1 0.907181 0.9733 1 Uncertain 11_64503363_G->A 11 64503363 64503363 G A snp 1397.77 0/1 99 91 32 59 0.65 intronic rs10897524 RASGRP2 AR NM_001098670 exon8 c.8601-11G>A 0.224441 0.3631 0.135349 0.1678 0.4132 Uncertain 11_64503496_A->G 11 64503496 64503496 A G snp 2059.77 1/1 99 72 0 72 1.0 intronic rs556356 RASGRP2 AR NM_001098670 exon8 c.8679+44A>G 0.964257 1 0.963066 0.9893 1 Uncertain 11_64503544_T->- 11 64503544 64503544 T - indel 347.73 0/1 99 24 13 11 0.46 intronic rs33956572 RASGRP2 AR NM_001098670 exon8 c.8679+92delT 0.686502 0.6359 Uncertain 11_64507315_T->C 11 64507315 64507315 T C snp 3049.77 1/1 99 109 0 109 1.0 intronic rs550930 RASGRP2 AR NM_001098670 exon11 c.12508+34T>C 0.91234 1 0.903879 0.9736 1 Uncertain 11_64507680_A->C 11 64507680 64507680 A C snp 7260.77 1/1 99 250 0 250 1.0 intronic rs547280 RASGRP2 AR NM_001098670 exon12 c.12862+45A>C 0.91234 1 0.903740 0.9736 1 Uncertain 11_64507799_G->C 11 64507799 64507799 G C snp 4180.77 1/1 99 141 0 141 1.0 intronic rs546323 RASGRP2 AR NM_001098670 exon12 c.12862+164G>C 0.91234 1 Uncertain 11_64510898_C->T 11 64510898 64510898 C T snp 1536.77 1/1 99 58 0 58 1.0 intronic rs2904961 RASGRP2 AR NM_001098670 exon16 c.15636+489C>T 0.912141 1 0.9327 1 Uncertain 11_64511050_G->C 11 64511050 64511050 G C snp 875.77 0/1 99 69 31 38 0.55 intronic rs2073797 RASGRP2 AR NM_001098671 exon17 c.16701-424G>C 0.702476 0.6488 0.8585 0.7692 Uncertain 11_64511322_T->G 11 64511322 64511322 T G snp 56.74 1/1 6 2 0 2 1.0 intronic rs2073798 RASGRP2 AR NM_001098671 exon17 c.16701-152T>G 0.687899 0.6468 Uncertain 11_64514506_A->G 11 64514506 64514506 A G snp 1309.77 0/1 99 96 44 52 0.54 intronic rs569602 PYGM AR NM_001164716 exon2 c.329+47A>G 0.17492 0.3532 0.085257 0.1365 0.3902 Uncertain 11_64519062_T->C 11 64519062 64519062 T C snp 2494.77 0/1 99 183 78 105 0.57 intronic rs532747 PYGM AR NM_001164716 exon6 c.4938-6T>C 0.164537 0.3234 0.083564 0.1338 0.3617 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000081309.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 11_64519345_G->A 11 64519345 64519345 G A snp 600.77 0/1 99 30 11 19 0.63 intronic rs686171 PYGM AR NM_001164716 exon7 c.5265-50G>A 0.147764 0.3234 0.065789 0.1289 0.3621 Uncertain 11_64520942_G->T 11 64520942 64520942 G T snp 1081.77 0/1 99 136 83 53 0.39 intronic rs2959652 PYGM AR NM_001164716 exon10 c.6860-48G>T 0.658946 0.6448 0.749456 0.8129 0.6413 Uncertain 11_64522066_A->G 11 64522066 64522066 A G snp 423.77 0/1 99 28 15 13 0.46 intronic rs625172 PYGM AR NM_001164716 exon13 c.8034-98A>G 0.692692 0.6488 Uncertain 11_64525216_C->T 11 64525216 64525216 C T snp 1607.77 0/1 99 116 49 67 0.58 intronic rs589691 PYGM AR NM_001164716 exon16 c.11120-34C>T 0.61242 0.6478 0.701985 0.7933 0.6112 Uncertain 11_64525464_C->T 11 64525464 64525464 C T snp 506.77 0/1 99 44 23 21 0.48 intronic rs490980 PYGM AR NM_001164716 exon16 c.11252+82C>T 0.612021 0.7014 Uncertain 11_64525644_G->T 11 64525644 64525644 G T snp 504.53 1/1 3 17 1 16 0.94 intronic rs489192 PYGM AR NM_001164716 exon17 c.11587-73G>T 0.736022 0.6369 Uncertain 11_64535357_T->C 11 64535357 64535357 T C snp 5677.77 1/1 99 203 0 203 1.0 intronic rs575375 SF1 AU NM_001178031 exon4 c.2027+41T>C 0.96865 1 0.969587 0.9913 1 Uncertain 11_64535849_C->T 11 64535849 64535849 C T snp 1403.77 1/1 99 46 0 46 1.0 intronic rs561158 SF1 AU NM_001178031 exon5 c.2469+91C>T 0.968051 1 Uncertain 11_64536866_T->C 11 64536866 64536866 T C snp 4313.77 1/1 99 145 0 145 1.0 intronic rs484886 SF1 AU NM_001178031 exon8 c.3608-31T>C 0.970847 1 0.971376 0.9917 0.9997 Uncertain 11_64537217_TCTAT->- 11 64537217 64537221 TCTAT - indel 646.75 1/1 24 14 0 14 1.0 intronic rs148824704 SF1 AU NM_001178031 exon8 c.3792+136_3792+140delTCTAT 0.0632987 0.256 Uncertain 11_64559898_T->C 11 64559898 64559898 T C snp 4541.77 1/1 99 140 0 140 1.0 splicing rs10897526 MAP4K2 AU NM_004579 exon8 c.2886+4T>C 0.423323 0.7351 0.255619 0.4414 0.7546 Pathogenic 11_64563934_A->G 11 64563934 64563934 A G snp 6957.77 1/1 99 250 1 249 1.0 intronic rs483544 MAP4K2 AU NM_004579 exon10 c.6956-30A>G 0.997604 1 0.998384 0.9993 1 Uncertain 11_64567692_G->C 11 64567692 64567692 G C snp 2455.77 1/1 99 80 0 80 1.0 splicing rs2301564 MAP4K2 AU NM_004579 exon21 c.10680+4G>C 0.135982 0.3036 0.063404 0.0549 0.3042 Pathogenic 11_64572557_A->G 11 64572557 64572557 A G snp 2993.77 1/1 99 111 0 111 1.0 exonic rs540012 MEN1 AU,AD synonymous SNV NM_130799 exon9 c.T1299C p.H433H 0.976038 1 0.976147 0.9927 1 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000153486.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 11_64594490_A->G 11 64594490 64594490 A G snp 514.77 1/1 39 14 0 14 1.0 intronic rs646709 CDC42BPG AU NM_017525 exon4 c.2577-31A>G 0.996805 1 0.997611 0.9983 0.9995 Uncertain 11_64598944_A->G 11 64598944 64598944 A G snp 2866.77 1/1 99 107 1 106 0.99 intronic rs684071 CDC42BPG AU NM_017525 exon10 c.7032-32A>G 0.991014 1 0.992688 0.9977 1 Uncertain 11_64600379_G->A 11 64600379 64600379 G A snp 632.77 0/1 99 51 26 25 0.49 exonic rs185221998 CDC42BPG AU synonymous SNV NM_017525 exon25 c.C2784T p.P928P 0.00159744 0.0079 0.0004 0.0110 ID=COSM1355819;OCCURENCE=1(large_intestine) Uncertain 11_64601532_G->A 11 64601532 64601532 G A snp 541.77 0/1 99 38 20 18 0.47 intronic rs189842130 CDC42BPG AU NM_017525 exon17 c.9505+83G>A 0.000798722 0.004 Uncertain 11_64602757_T->C 11 64602757 64602757 T C snp 5113.77 1/1 99 185 1 184 0.99 intronic rs561895 CDC42BPG AU NM_017525 exon22 c.10874-61T>C 0.628395 0.9464 0.413710 Uncertain 11_64604178_T->C 11 64604178 64604178 T C snp 71.9 0/1 15 4 1 3 0.75 intronic rs2904960 CDC42BPG AU NM_017525 exon27 c.12266-32T>C 0.8891 0.8 Uncertain 11_64605689_A->G 11 64605689 64605689 A G snp 517.77 1/1 39 18 0 18 1.0 intronic rs541525 CDC42BPG AU NM_017525 exon29 c.13690+55A>G 0.999201 1 0.999343 Uncertain 11_64606177_C->T 11 64606177 64606177 C T snp 5320.77 1/1 99 190 0 190 1.0 exonic rs653343 CDC42BPG AU synonymous SNV NM_017525 exon8 c.G1074A p.G358G 0.268171 0.4544 0.149508 0.1918 0.4198 Uncertain 11_64606765_T->C 11 64606765 64606765 T C snp 2060.77 1/1 99 60 0 60 1.0 intronic rs676977 CDC42BPG AU NM_017525 exon31 c.14761+60T>C 0.996805 1 Uncertain 11_64607587_C->T 11 64607587 64607587 C T snp 1597.77 1/1 99 47 0 47 1.0 splicing rs589984 CDC42BPG AU NM_017525 exon33 c.15647-4C>T 0.267572 0.4544 0.148345 0.2130 0.4503 Pathogenic 11_64608173_C->- 11 64608173 64608173 C - indel 3045.73 1/1 99 88 0 88 1.0 intronic rs57183951 CDC42BPG AU NM_017525 exon34 c.16176+53delC 0.267572 0.4544 0.151031 0.1914 0.4216 Uncertain 11_64621856_A->G 11 64621856 64621856 A G snp 4632.77 1/1 99 157 0 157 1.0 exonic rs3897618 EHD1 AU synonymous SNV NM_006795 exon5 c.T1554C p.P518P 1 1 0.999923 1.0000 1 Uncertain 11_64622419_T->G 11 64622419 64622419 T G snp 672.77 1/1 51 17 0 17 1.0 intronic rs2007512 EHD1 AU NM_006795 exon1 c.525+90T>G 0.992212 1 Uncertain 11_64622869_G->C 11 64622869 64622869 G C snp 1052.77 0/1 99 112 64 48 0.43 exonic rs10897533 EHD1 AU synonymous SNV NM_006795 exon4 c.C1005G p.L335L 0.696086 0.5625 0.779471 0.8206 0.5158 Uncertain 11_64645871_A->G 11 64645871 64645871 A G snp 2147.77 0/1 99 211 115 96 0.45 exonic rs1211284 EHD1 AU synonymous SNV NM_006795 exon1 c.T66C p.A22A 0.64976 0.5615 0.734072 0.8085 0.5154 Uncertain 11_64646034_G->C 11 64646034 64646034 G C snp 550.77 0/1 99 37 17 20 0.54 UTR5 rs12801172 EHD1 AU 0.167931 0.4365 Uncertain 11_64646842_A->G 11 64646842 64646842 A G snp 65.77 0/1 94 8 5 3 0.38 intronic rs589556 EHD1 AU NM_001282444 exon6 c.24824+214A>G 0.821286 0.5685 Uncertain 11_64646860_A->G 11 64646860 64646860 A G snp 157.77 0/1 99 17 10 7 0.41 intronic rs654580 EHD1 AU NM_001282444 exon7 c.25279-223A>G 0.807109 0.5694 Uncertain 11_64656757_G->A 11 64656757 64656757 G A snp 505.77 0/1 99 36 14 22 0.61 intergenic rs7944276 EHD1 AU 0.169928 0.4325 0.1150 0.4868 Uncertain 11_64660280_T->A 11 64660280 64660280 T A snp 2009.77 0/1 99 209 123 86 0.41 intergenic MIR194-2 AU Uncertain 11_64664774_C->T 11 64664774 64664774 C T snp 1130.77 0/1 99 66 20 46 0.7 intronic rs658006 ATG2A AU NM_015104 exon5 c.2439-109C>T 0.546725 0.5565 Uncertain 11_64669417_T->C 11 64669417 64669417 T C snp 2719.77 1/1 99 80 0 80 1.0 intronic rs682673 ATG2A AU NM_015104 exon13 c.6989-16T>C 0.994409 1 0.995691 0.9988 1 Uncertain 11_64674676_G->A 11 64674676 64674676 G A snp 251.77 0/1 99 15 6 9 0.6 intronic rs34944753 ATG2A AU NM_015104 exon23 c.12282-50G>A 0.253195 0.4306 0.185474 0.2583 0.4461 Uncertain 11_64677293_G->C 11 64677293 64677293 G C snp 2847.77 1/1 99 101 0 101 1.0 exonic rs656195 ATG2A AU nonsynonymous SNV NM_015104 exon14 c.C1967G p.P656R 0.998602 1 0.999460 0.9998 1 1 T 0.0 P -0.972 T 0.0 T 0.0 T Pathogenic 11_64678920_T->C 11 64678920 64678920 T C snp 178.9 1/1 15 5 0 5 1.0 intronic rs638583 ATG2A AU NM_015104 exon32 c.16303+173T>C 0.991014 1 Uncertain 11_64680407_G->C 11 64680407 64680407 G C snp 423.77 1/1 33 12 0 12 1.0 intronic rs594820 ATG2A AU NM_015104 exon36 c.18065-102G>C 0.990615 1 Uncertain 11_64680819_G->A 11 64680819 64680819 G A snp 327.77 0/1 99 29 18 11 0.38 exonic rs618006 ATG2A AU synonymous SNV NM_015104 exon5 c.C645T p.D215D 0.551717 0.5427 0.639205 0.6743 0.5213 1.000 P -1.023 T Likely benign 11_64684729_T->C 11 64684729 64684729 T C snp 632.77 1/1 48 17 0 17 1.0 upstream rs2427876 ATG2A AU 0.992013 1 Uncertain 11_64693086_-->CC 11 64693086 64693086 - CC indel 341.73 0/1 99 37 20 17 0.46 UTR5 rs369353409 PPP2R5B AU 0.1587 0.4375 Uncertain 11_64700767_G->A 11 64700767 64700767 G A snp 958.77 1/1 72 30 0 30 1.0 intronic rs675090 PPP2R5B AU NM_006244 exon13 c.7512+49G>A 0.705072 0.5466 0.777162 0.7391 0.5310 Uncertain 11_64702200_C->T 11 64702200 64702200 C T snp 7425.77 1/1 99 250 0 250 1.0 UTR3 rs673995 GPHA2 AU 0.690096 0.5784 0.727301 0.7006 0.5511 Uncertain 11_64702765_-->TCTG 11 64702765 64702765 - TCTG indel 490.73 0/1 99 22 13 9 0.41 intronic rs2307669 GPHA2 AU NM_130769 exon3 c.585-64insTCTG 0.468051 0.251 Uncertain 11_64702815_C->T 11 64702815 64702815 C T snp 392.77 0/1 99 32 16 16 0.5 intronic rs2375087 GPHA2 AU NM_130769 exon3 c.585-14C>T 0.215655 0.2966 0.121884 0.1675 0.3177 Uncertain 11_64717774_C->T 11 64717774 64717774 C T snp 135.77 0/1 99 16 8 8 0.5 intronic rs112569550 C11orf85 AU NM_001037225 exon7 c.10692-52C>T 0.096845 0.2232 0.054996 Uncertain 11_64717802_A->- 11 64717802 64717802 A - indel 105.73 0/1 99 31 15 16 0.52 intronic rs559913940 C11orf85 AU NM_001037225 exon7 c.10692-24delA 0.36881 0.3909 0.1387 0.1478 Uncertain 11_64757496_C->T 11 64757496 64757496 C T snp 3638.77 0/1 99 250 113 137 0.55 intronic rs10897540 BATF2 AU NM_001300807 exon2 c.945-49C>T 0.17492 0.2718 0.0984 0.3434 Uncertain 11_64757504_G->C 11 64757504 64757504 G C snp 3617.77 0/1 99 249 108 141 0.57 intronic rs574381 BATF2 AU NM_001300807 exon2 c.945-41G>C 0.624002 0.5188 0.6975 0.5488 Uncertain 11_64757718_C->T 11 64757718 64757718 C T snp 876.77 0/1 99 51 19 32 0.63 UTR5 rs7947883 BATF2 AU 0.284145 0.2956 Uncertain 11_64761779_T->C 11 64761779 64761779 T C snp 64.77 0/1 93 12 8 4 0.33 intronic rs626670 BATF2 AU NM_138456 exon2 c.5319-140T>C 0.666933 0.4772 Uncertain 11_64808647_A->C 11 64808647 64808647 A C snp 454.77 1/1 33 20 0 20 1.0 UTR5 rs10160811 SAC3D1 AU 0.853035 0.9435 0.8331 0.9365 0.3 T 0.000 P -1.024 T Uncertain 11_64808682_C->- 11 64808682 64808682 C - indel 771.73 1/1 66 24 0 24 1.0 UTR5 rs34998502 SAC3D1 AU 0.8317 0.9322 Uncertain 11_64809044_C->T 11 64809044 64809044 C T snp 1919.77 1/1 99 75 0 75 1.0 exonic rs3741390 SAC3D1 AU nonsynonymous SNV NM_013299 exon1 c.C280T p.R94C 0.395966 0.7639 0.223934 0.3445 0.7708 0.23 T 0.000 P -0.997 T 0.003 T 0.002 T Pathogenic 11_64809090_T->G 11 64809090 64809090 T G snp 1676.77 1/1 99 65 0 65 1.0 exonic rs12271134 SAC3D1 AU nonsynonymous SNV NM_013299 exon1 c.T326G p.L109R 0.997404 1 0.998681 0.9982 1 1 T 0.000 P -0.969 T 0.0 T 0.0 T Pathogenic 11_64809133_T->G 11 64809133 64809133 T G snp 1212.77 1/1 87 41 0 41 1.0 exonic rs10792455 SAC3D1 AU synonymous SNV NM_013299 exon1 c.T369G p.A123A 0.840256 0.9435 0.922787 0.8341 0.9194 Uncertain 11_64809167_A->G 11 64809167 64809167 A G snp 944.77 1/1 69 28 0 28 1.0 exonic rs10792456 SAC3D1 AU nonsynonymous SNV NM_013299 exon1 c.A403G p.T135A 0.942692 0.9752 0.9689 0.9706 0.57 T 0.000 P -0.976 T 0.0 T 0.0 T Pathogenic 11_64820695_T->G 11 64820695 64820695 T G snp 233.77 0/1 99 14 6 8 0.57 exonic rs12223986 NAALADL1 AU nonsynonymous SNV NM_005468 exon8 c.A1193C p.K398T 0.0401358 0.1736 0.000553 0.0184 0.2251 0.03 T 1.000 P -1.081 T 0.998 D 0.971 D Pathogenic 11_64824738_C->T 11 64824738 64824738 C T snp 544.77 0/1 99 28 9 19 0.68 intronic rs2298405 NAALADL1 AU NM_005468 exon15 c.12100-104C>T 0.0377396 0.1627 Uncertain 11_64834432_T->A 11 64834432 64834432 T A snp 1028.77 1/1 75 32 0 32 1.0 intergenic rs573957 NAALADL1 AU 0.997404 1 Uncertain 11_64835415_C->G 11 64835415 64835415 C G snp 1078.77 1/1 81 34 0 34 1.0 intergenic rs3850946 NAALADL1 AU 0.358227 0.6548 Uncertain 11_64836207_C->G 11 64836207 64836207 C G snp 880.77 1/1 66 26 0 26 1.0 intergenic rs12362669 NAALADL1 AU 0.358626 0.6548 Uncertain 11_64851454_T->- 11 64851454 64851454 T - indel 7211.73 1/1 99 180 0 180 1.0 UTR5 rs35819335 CDCA5 AU 0.853035 0.9306 0.896658 0.9048 0.9355 Uncertain 11_64852421_T->C 11 64852421 64852421 T C snp 225.84 1/1 18 7 0 7 1.0 intronic rs531178 ZFPL1 AU NM_006782 exon2 c.102+149T>C 0.883586 0.9306 Uncertain 11_64856500_A->G 11 64856500 64856500 A G snp 1703.77 1/1 99 56 0 56 1.0 exonic rs525781 TMEM262 AU nonsynonymous SNV NM_001242631 exon1 c.T4C p.W2R 0.997005 1 0.9999 1 1 T 0.004 P -0.911 T Pathogenic 11_64878661_T->C 11 64878661 64878661 T C snp 4732.77 1/1 99 167 0 167 1.0 intronic rs625004 VPS51 AU NM_013265 exon10 c.15076-137T>C 1 1 1 1 0 D 0.000 P -1.020 T Uncertain 11_64880090_G->C 11 64880090 64880090 G C snp 870.77 1/1 63 30 0 30 1.0 exonic rs4930284 TM7SF2 AU synonymous SNV NM_001277233 exon2 c.G156C p.P52P 0.996406 1 0.999145 0.9998 1 Uncertain 11_64883864_A->G 11 64883864 64883864 A G snp 4069.77 1/1 99 148 0 148 1.0 downstream rs1706937 TM7SF2 AU 0.448283 0.6597 0.442512 0.4757 0.6589 Uncertain 11_64884052_G->A 11 64884052 64884052 G A snp 5202.77 1/1 99 174 0 174 1.0 exonic rs1546532 ZNHIT2 AU synonymous SNV NM_014205 exon1 c.C1074T p.A358A 0.886781 0.9325 0.932825 0.9171 0.9391 Uncertain 11_64889416_G->C 11 64889416 64889416 G C snp 568.77 1/1 42 19 0 19 1.0 intronic rs769440 FAU AU NM_001997 exon4 c.1141+123G>C 0.448682 0.6567 Uncertain 11_64897453_C->T 11 64897453 64897453 C T snp 2461.77 1/1 99 93 1 92 0.99 intronic rs1206196 SYVN1 AU NM_032431 exon4 c.1620-20C>T 0.446486 0.6597 0.438859 0.4823 0.6532 Uncertain 11_64898357_-->C 11 64898357 64898357 - C indel 9968.73 1/1 99 249 0 249 1.0 intronic rs11369296 SYVN1 AU NM_032431 exon7 c.2537-33insC 0.9932 0.9999 Uncertain 11_64948277_A->C 11 64948277 64948277 A C snp 2598.77 0/1 99 191 87 104 0.54 upstream rs3953797 CAPN1 AR 0.298123 0.3006 0.2838 0.3112 0 D 0.000 P -0.960 T 0.0 T 0.0 T Uncertain 11_64948555_A->G 11 64948555 64948555 A G snp 611.77 0/1 99 43 21 22 0.51 upstream rs12422027 CAPN1 AR 0.290935 0.3036 0.4235 0.5556 Uncertain 11_64950843_A->T 11 64950843 64950843 A T snp 172.77 0/1 99 15 8 7 0.47 intronic rs2277307 CAPN1 AR NM_001198869 exon4 c.772-101A>T 0.244609 0.2966 Uncertain 11_64950970_C->T 11 64950970 64950970 C T snp 1968.77 0/1 99 146 64 82 0.56 exonic rs17583 CAPN1 AR synonymous SNV NM_001198868 exon4 c.C363T p.I121I 0.244609 0.2966 0.220860 0.2898 0.2821 Uncertain 11_64954882_C->- 11 64954882 64954882 C - indel 396.73 0/1 99 28 13 15 0.54 intronic rs3832790 CAPN1 AR NM_001198869 exon7 c.4597+113delC Uncertain 11_64972286_G->C 11 64972286 64972286 G C snp 1840.77 0/1 99 167 94 73 0.44 exonic rs10895991 CAPN1 AR nonsynonymous SNV NM_001198868 exon11 c.G1298C p.R433P 0.072484 0.2044 0.060630 0.0776 0.2142 0.14 T 1.000 P -1.158 T 0.996 D 0.979 D Pathogenic 11_64972354_A->T 11 64972354 64972354 A T snp 2286.77 1/1 99 82 0 82 1.0 intronic rs2271450 CAPN1 AR NM_001198869 exon11 c.22157+25A>T 0.347444 0.4365 0.325601 0.3846 0.4378 Uncertain 11_64977424_C->T 11 64977424 64977424 C T snp 2371.77 0/1 99 214 101 113 0.53 intronic rs2271448 CAPN1 AR NM_001198869 exon18 c.27216+36C>T 0.27476 0.2421 0.261226 0.3091 0.2213 Uncertain 11_64977644_C->T 11 64977644 64977644 C T snp 762.77 0/1 99 70 42 28 0.4 intronic rs625750 CAPN1 AR NM_001198869 exon19 c.27395+77C>T 0.311701 0.4286 Uncertain 11_64977937_A->G 11 64977937 64977937 A G snp 5040.77 1/1 99 183 0 183 1.0 intronic rs542380 CAPN1 AR NM_001198869 exon20 c.27751+14A>G 0.647564 0.6706 0.717437 0.7711 0.6848 Uncertain 11_64981472_G->C 11 64981472 64981472 G C snp 2036.77 0/1 99 166 76 90 0.54 exonic rs239258 SLC22A20 AU synonymous SNV NM_001004326 exon1 c.G129C p.T43T 0.346645 0.3929 0.375165 0.4338 0.4094 Uncertain 11_64981522_C->A 11 64981522 64981522 C A snp 1602.77 0/1 99 152 78 74 0.49 exonic rs11605576 SLC22A20 AU nonsynonymous SNV NM_001004326 exon1 c.C179A p.A60D 0.287141 0.2629 0.285356 0.3930 0.3111 Pathogenic 11_64981587_G->A 11 64981587 64981587 G A snp 1530.77 0/1 99 112 50 62 0.55 exonic rs11605632 SLC22A20 AU nonsynonymous SNV NM_001004326 exon1 c.G244A p.E82K 0.374401 0.2629 0.382122 0.4488 0.3554 Pathogenic 11_64981837_C->T 11 64981837 64981837 C T snp 639.77 0/1 99 50 25 25 0.5 exonic rs12420456 SLC22A20 AU nonsynonymous SNV NM_001004326 exon2 c.C422T p.A141V 0.287141 0.2599 0.289453 0.3377 0.2403 Pathogenic 11_64981853_G->T 11 64981853 64981853 G T snp 474.77 0/1 99 47 27 20 0.43 exonic rs239259 SLC22A20 AU nonsynonymous SNV NM_001004326 exon2 c.G438T p.M146I 0.297324 0.3889 0.336548 0.3821 0.3891 Pathogenic 11_64990041_G->C 11 64990041 64990041 G C snp 1065.77 1/1 75 40 0 40 1.0 exonic rs514076 SLC22A20 AU nonsynonymous SNV NM_001004326 exon4 c.G737C p.G246A 0.572085 0.6776 0.628172 0.7124 0.6642 Pathogenic 11_64993195_-->AGTA 11 64993195 64993195 - AGTA indel 7342.73 1/1 99 111 0 111 1.0 UTR3 rs10633296 SLC22A20 AU 0.875 0.9236 0.8586 0.8918 Uncertain 11_65000478_C->T 11 65000478 65000478 C T snp 523.77 1/1 39 15 0 15 1.0 intergenic rs2904978 SLC22A20 AU 0.578075 0.6944 Uncertain 11_65000719_C->T 11 65000719 65000719 C T snp 4652.77 1/1 99 178 1 177 0.99 intergenic rs2904979 SLC22A20 AU 0.874601 0.9226 0.901288 0.8965 0.9069 Uncertain 11_65003812_T->C 11 65003812 65003812 T C snp 646.77 1/1 48 19 0 19 1.0 intergenic rs625427 SLC22A20 AU 0.828275 0.9236 Uncertain 11_65004301_G->T 11 65004301 65004301 G T snp 6834.77 1/1 99 250 0 250 1.0 intergenic rs2904982 SLC22A20 AU 0.880192 0.9385 0.897836 0.8923 0.9232 Uncertain 11_65004309_C->T 11 65004309 65004309 C T snp 2724.77 0/1 99 250 131 119 0.48 intergenic rs564476 SLC22A20 AU 0.076278 0.2321 0.059184 0.0792 0.2505 Uncertain 11_65004386_C->T 11 65004386 65004386 C T snp 1724.77 0/1 99 145 73 72 0.5 intergenic rs56657874 SLC22A20 AU 0.243011 0.246 0.255262 0.3264 0.2289 Uncertain 11_65118971_T->C 11 65118971 65118971 T C snp 938.77 1/1 69 28 0 28 1.0 intronic rs620888 DPF2 AU NM_006268 exon11 c.17796-182T>C 0.988219 1 Uncertain 11_65118997_C->T 11 65118997 65118997 C T snp 736.77 0/1 99 50 22 28 0.56 intronic rs689288 DPF2 AU NM_006268 exon11 c.17796-156C>T 0.122204 0.0774 Uncertain 11_65123246_T->G 11 65123246 65123246 T G snp 1121.77 0/1 99 80 33 47 0.59 intronic rs612392 TIGD3 AU 0.120208 0.0774 0.107495 0.1066 0.0937 Uncertain 11_65143702_T->- 11 65143702 65143702 T - indel 1203.73 0/1 99 60 26 34 0.57 UTR3 rs80042162 SLC25A45 AU 0.263179 0.1776 Uncertain 11_65144075_T->C 11 65144075 65144075 T C snp 7351.77 1/1 99 250 0 250 1.0 exonic rs624307 SLC25A45 AU nonsynonymous SNV NM_001278250 exon5 c.A598G p.M200V 0.971446 1 0.974289 0.9927 1 1 T 0.030 P -0.958 T 0.0 T 0.0 T Pathogenic 11_65146734_C->G 11 65146734 65146734 C G snp 110.78 0/1 27 5 1 4 0.8 intronic rs2073799 SLC25A45 AU NM_001278250 exon3 c.2969-112C>G 0.525559 0.5486 Uncertain 11_65147294_G->A 11 65147294 65147294 G A snp 1131.77 0/1 99 118 67 51 0.43 intronic rs547221 SLC25A45 AU NM_001300820 exon3 c.3460-43G>A 0.295128 0.2738 0.419522 0.4573 0.2765 Uncertain 11_65147862_C->G 11 65147862 65147862 C G snp 379.77 1/1 30 11 0 11 1.0 intronic rs573864 SLC25A45 AU NM_001278251 exon6 c.4127-142C>G 0.873003 0.8244 Uncertain 11_65157094_C->T 11 65157094 65157094 C T snp 527.77 0/1 99 36 13 23 0.64 intronic rs739389 FRMD8 AU NM_031904 exon3 c.2492+95C>T 0.383586 0.4782 Uncertain 11_65161129_C->T 11 65161129 65161129 C T snp 1314.77 0/1 99 139 82 57 0.41 exonic rs2073800 FRMD8 AU synonymous SNV NM_001300832 exon3 c.C171T p.D57D 0.287939 0.2698 0.408727 0.4642 0.2848 Uncertain 11_65161328_T->C 11 65161328 65161328 T C snp 386.77 0/1 99 33 15 18 0.55 intronic rs4930154 FRMD8 AU NM_031904 exon5 c.7004-183T>C 0.665535 0.7292 Uncertain 11_65164114_G->A 11 65164114 65164114 G A snp 163.77 0/1 99 13 5 8 0.62 intronic rs7940559 FRMD8 AU NM_031904 exon7 c.9762-155G>A 0.46845 0.5198 Uncertain 11_65178620_G->A 11 65178620 65178620 G A snp 575.77 1/1 42 25 0 25 1.0 intronic rs2957274 FRMD8 AU NM_031904 exon11 c.24205-92G>A 0.920727 1 Uncertain 11_65211735_TGTGTGTGTGTG->- 11 65211735 65211746 TGTGTGTGTGTG - indel 1179.73 0/1 99 15 5 10 0.67 ncRNA_exonic rs566595632 NEAT1 AU 0.937899 0.8879 Uncertain 11_65223248_G->C 11 65223248 65223248 G C snp 62.77 0/1 91 11 7 4 0.36 intergenic NEAT1 AU Uncertain 11_65266537_A->G 11 65266537 65266537 A G snp 618.77 0/1 99 54 29 25 0.46 ncRNA_exonic rs376467321 MALAT1 AU 0.000599042 0.000175 0.0001 0.0002 Uncertain 11_65318685_G->C 11 65318685 65318685 G C snp 1098.77 0/1 99 87 39 48 0.55 exonic LTBP3 AR synonymous SNV NM_001130144 exon11 c.C1632G p.S544S 1 D -0.951 T Likely benign 11_65320780_G->A 11 65320780 65320780 G A snp 1087.77 1/1 81 34 0 34 1.0 intronic rs4244811 LTBP3 AR NM_001164266 exon23 c.14177+53G>A 0.547923 0.6905 0.565922 Uncertain 11_65347636_G->C 11 65347636 65347636 G C snp 3408.77 1/1 99 111 0 111 1.0 exonic rs1194100 EHBP1L1 AU nonsynonymous SNV NM_001099409 exon5 c.G397C p.V133L 0.9998 1 0.999374 0.9999 1 1 T 1.0 P -0.942 T 0.0 T 0.006 T Pathogenic 11_65349063_G->A 11 65349063 65349063 G A snp 1729.77 1/1 99 62 0 62 1.0 exonic rs3741380 EHBP1L1 AU nonsynonymous SNV NM_001099409 exon9 c.G920A p.R307Q 0.459864 0.4504 0.459734 0.5876 0.5658 0.08 T 0.678 P -1.020 T 0.105 T 0.007 T Pathogenic 11_65349756_T->G 11 65349756 65349756 T G snp 1877.77 1/1 99 71 0 71 1.0 exonic rs6591182 EHBP1L1 AU nonsynonymous SNV NM_001099409 exon9 c.T1613G p.V538G 0.425919 0.4514 0.424197 0.4839 0.4699 0 D 1.000 P -0.916 T 0.956 T 0.63 D Pathogenic 11_65349849_A->T 11 65349849 65349849 A T snp 1561.77 1/1 99 60 0 60 1.0 exonic rs1194099 EHBP1L1 AU nonsynonymous SNV NM_001099409 exon9 c.A1706T p.D569V 0.94369 0.9921 0.950729 0.9855 0.9944 1 T 0.0 P -0.960 T 0.0 T 0.0 T Pathogenic 11_65357697_A->G 11 65357697 65357697 A G snp 1113.77 1/1 81 33 0 33 1.0 intronic rs1151503 EHBP1L1 AU NM_001099409 exon15 c.13908+16A>G 0.851438 0.9583 0.784018 0.8162 0.9756 Uncertain 11_65359625_C->G 11 65359625 65359625 C G snp 3294.77 1/1 99 109 0 109 1.0 intronic rs4261292 EHBP1L1 AU NM_001099409 exon19 c.15900-48C>G 0.99401 1 0.994622 0.9982 1 Uncertain 11_65373621_A->G 11 65373621 65373621 A G snp 898.77 1/1 66 32 0 32 1.0 intronic rs1151527 MAP3K11 AU NM_002419 exon4 c.7791+69A>G 0.994808 1 Uncertain 11_65380916_G->A 11 65380916 65380916 G A snp 2888.77 0/1 99 245 132 113 0.46 exonic rs2004649 MAP3K11 AU synonymous SNV NM_002419 exon1 c.C312T p.G104G 0.354433 0.3244 0.345550 0.4263 0.3379 Uncertain 11_65383896_G->C 11 65383896 65383896 G C snp 6690.77 1/1 99 250 0 250 1.0 exonic rs7947140 PCNXL3 AU synonymous SNV NM_032223 exon1 c.G114C p.V38V 1 1 1.0000 1 Uncertain 11_65385606_A->G 11 65385606 65385606 A G snp 3714.77 1/1 99 123 0 123 1.0 exonic rs1151489 PCNXL3 AU nonsynonymous SNV NM_032223 exon6 c.A773G p.Q258R 0.996206 1 0.995288 0.9987 1 0.7 T 0.0 P -1.006 T 0.0 T 0.0 T Pathogenic 11_65387378_T->A 11 65387378 65387378 T A snp 2431.77 0/1 99 248 146 102 0.41 exonic rs61744384 PCNXL3 AU synonymous SNV NM_032223 exon8 c.T1983A p.A661A 0.411741 0.4355 0.374763 0.4616 0.4708 Uncertain 11_65389631_A->G 11 65389631 65389631 A G snp 618.77 0/1 99 38 14 24 0.63 intronic rs1144789 PCNXL3 AU NM_032223 exon11 c.5933-84A>G 0.571286 0.5645 Uncertain 11_65389890_G->C 11 65389890 65389890 G C snp 627.77 0/1 99 54 28 26 0.48 intronic rs11227241 PCNXL3 AU NM_032223 exon11 c.6055+53G>C 0.378794 0.3264 Uncertain 11_65392695_C->T 11 65392695 65392695 C T snp 1778.77 0/1 99 188 112 76 0.4 exonic rs1205259 PCNXL3 AU synonymous SNV NM_032223 exon17 c.C2973T p.L991L 0.235224 0.1349 0.341911 0.2792 0.1083 Uncertain 11_65394322_A->G 11 65394322 65394322 A G snp 597.77 0/1 99 45 22 23 0.51 intronic rs10896024 PCNXL3 AU NM_032223 exon21 c.10592-52A>G 0.416733 0.4196 0.5234 0.5215 Uncertain 11_65404018_G->A 11 65404018 65404018 G A snp 825.77 0/1 99 74 40 34 0.46 exonic rs77200859 PCNXL3 AU nonsynonymous SNV NM_032223 exon34 c.G5750A p.R1917Q 0.0471246 0.0635 0.027849 0.0575 0.0961 0.59 T 0.981 N -0.982 T 0.017 T 0.002 T Pathogenic 11_65412467_G->A 11 65412467 65412467 G A snp 1229.77 0/1 99 132 77 55 0.42 exonic rs2306364 SIPA1 AU synonymous SNV NM_153253 exon5 c.G1026A p.A342A 0.353435 0.251 0.391120 0.4009 0.2549 Uncertain 11_65415028_T->G 11 65415028 65415028 T G snp 2438.77 1/1 99 90 0 90 1.0 exonic rs4930157 SIPA1 AU synonymous SNV NM_153253 exon9 c.T2205G p.T735T 0.996406 1 0.995768 0.9986 1 Uncertain 11_65423082_G->A 11 65423082 65423082 G A snp 1958.77 1/1 99 81 1 80 0.99 intronic rs1144792 RELA AU NM_001243984 exon2 c.1310-76G>A 0.994808 1 0.9980 1 Uncertain 11_65480791_A->G 11 65480791 65480791 A G snp 2970.77 1/1 99 98 0 98 1.0 intronic rs551115 KAT5 AU NM_006388 exon5 c.1080-27A>G 0.953474 1 0.955903 0.9873 1 Uncertain 11_65481166_T->C 11 65481166 65481166 T C snp 2052.77 0/1 99 155 68 87 0.56 intronic rs1151500 KAT5 AU NM_001206833 exon4 c.1400+28T>C 0.804912 0.9018 0.864958 0.8668 0.8949 Uncertain 11_65481465_T->G 11 65481465 65481465 T G snp 110.77 0/1 99 8 4 4 0.5 intronic rs487264 KAT5 AU NM_001206833 exon5 c.1581+146T>G 0.824681 0.9018 Uncertain 11_65483981_C->T 11 65483981 65483981 C T snp 110.77 0/1 66 6 2 4 0.67 intronic rs573589 KAT5 AU NM_001206833 exon8 c.4399-156C>T 0.303714 0.2887 Uncertain 11_65484569_A->G 11 65484569 65484569 A G snp 214.77 0/1 99 19 12 7 0.37 intronic rs563427 KAT5 AU NM_001206833 exon9 c.4715+116A>G 0.82488 0.9018 Uncertain 11_65546857_A->C 11 65546857 65546857 A C snp 2662.77 0/1 99 185 80 105 0.57 exonic rs610037 AP5B1 AU synonymous SNV NM_138368 exon2 c.T1107G p.L369L 0.453874 0.3681 0.564992 0.4902 0.3711 Uncertain 11_65547333_G->A 11 65547333 65547333 G A snp 1676.77 0/1 99 202 122 80 0.4 exonic rs12146493 AP5B1 AU nonsynonymous SNV NM_138368 exon2 c.C631T p.L211F 0.303714 0.3413 0.350345 0.2991 0.3243 Pathogenic 11_65548108_C->T 11 65548108 65548108 C T snp 274.28 0/1 9 9 1 8 0.89 upstream rs76925283 AP5B1 AU 0.138578 0.121 0.3560 . Uncertain 11_65554680_C->G 11 65554680 65554680 C G snp 261.77 0/1 99 20 11 9 0.45 UTR5 rs10896044 OVOL1 AU 0.691494 0.6101 Uncertain 11_65561468_C->T 11 65561468 65561468 C T snp 207.77 0/1 99 18 9 9 0.5 intronic rs644740 OVOL1 AU NM_004561 exon2 c.6657-33C>T 0.449281 0.3919 0.408741 0.4705 0.4097 Uncertain 11_65561732_G->C 11 65561732 65561732 G C snp 2492.77 0/1 99 247 139 108 0.44 intronic rs12226258 OVOL1 AU NM_004561 exon2 c.6875+13G>C 0.0307508 0.1488 0.000539 0.0134 0.1645 Uncertain 11_65562257_G->A 11 65562257 65562257 G A snp 1077.77 0/1 99 97 52 45 0.46 intronic rs2276133 OVOL1 AU NM_004561 exon3 c.7354+59G>A 0.31889 0.3919 Uncertain 11_65562852_G->C 11 65562852 65562852 G C snp 253.77 0/1 99 26 14 12 0.46 UTR3 rs72922786 OVOL1 AU 0.188099 0.1577 0.093335 0.2109 0.1615 Uncertain 11_65601466_C->T 11 65601466 65601466 C T snp 569.77 0/1 99 36 15 21 0.58 UTR5 rs59416249 SNX32 AU 0.211661 0.253 0.117389 Uncertain 11_65601560_G->C 11 65601560 65601560 G C snp 1535.77 0/1 99 140 72 68 0.49 exonic rs17854357 SNX32 AU synonymous SNV NM_152760 exon1 c.G24C p.G8G 0.0736821 0.0585 0.108877 0.1027 0.0470 Uncertain 11_65617114_G->- 11 65617114 65617114 G - indel 5406.73 1/1 99 145 0 145 1.0 intronic rs11327250 SNX32 AU NM_152760 exon2 c.15517+61delG 1 1 1.0000 1 Uncertain 11_65623739_A->G 11 65623739 65623739 A G snp 2551.77 0/1 99 236 123 113 0.48 intronic rs11227332 CFL1 AU NM_005507 exon3 c.907+26A>G 0.0966454 0.0585 0.153917 0.1501 0.0559 Uncertain 11_65630098_-->G 11 65630098 65630098 - G indel 2887.73 1/1 99 117 0 117 1.0 intronic rs3216088 MUS81 AU NM_025128 exon6 c.1776+98insG 0.445687 0.623 Uncertain 11_65636053_T->C 11 65636053 65636053 T C snp 2821.77 1/1 99 93 0 93 1.0 exonic rs601314 EFEMP2 AR nonsynonymous SNV NM_016938 exon8 c.A775G p.I259V 0.894569 1 0.894490 0.9695 1 1 T 0.000 P -0.945 T 0.0 T 0.001 T CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=Autosomal_recessive_cutis_laxa_type_IA|not_specified;CLNREVSTAT=no_assertion_criteria_provided|criteria_provided\x2c_single_submitter;CLNACC=RCV000032273.1|RCV000155538.1;CLNDSDB=GeneReviews:GeneReviews:MedGen:OMIM:Orphanet|MedGen;CLNDSDBID=NBK5201:NBK54467:CN033664:219100:ORPHA90349|CN169374 Pathogenic 11_65639374_C->T 11 65639374 65639374 C T snp 1434.77 0/1 99 125 63 62 0.5 intronic rs2234458 EFEMP2 AR NM_016938 exon9 c.5052-66C>T 0.565296 0.4802 0.564389 Uncertain 11_65647260_A->G 11 65647260 65647260 A G snp 311.77 0/1 99 18 7 11 0.61 upstream rs658524 CTSW AU 0.695288 0.5853 Uncertain 11_65647797_T->- 11 65647797 65647797 T - indel 534.73 0/1 99 121 62 59 0.49 intronic rs201535604 CTSW AU NM_001335 exon2 c.432+40delT 0.344249 0.381 0.2855 0.3371 Uncertain 11_65649774_A->G 11 65649774 65649774 A G snp 5958.77 1/1 99 217 0 217 1.0 exonic rs604630 CTSW AU nonsynonymous SNV NM_001335 exon4 c.A415G p.S139G 0.927316 1 0.933431 0.9798 0.9998 1 T 0.0 P -0.930 T 0.0 T 0.0 T Pathogenic 11_65649984_T->C 11 65649984 65649984 T C snp 2759.77 0/1 99 250 141 109 0.44 exonic rs687672 CTSW AU synonymous SNV NM_001335 exon5 c.T525C p.D175D 0.696685 0.5903 0.724719 0.7881 0.5810 Uncertain 11_65650515_G->T 11 65650515 65650515 G T snp 1354.77 0/1 99 114 58 56 0.49 intronic rs35461885 CTSW AU NM_001335 exon8 c.3214-24G>T 0.1873 0.252 0.104433 0.1823 0.2436 Uncertain 11_65651830_A->G 11 65651830 65651830 A G snp 491.77 0/1 99 42 23 19 0.45 intronic rs658938 FIBP AU NM_004214 exon2 c.418-32A>G 0.695288 0.5853 0.724523 0.7930 0.5873 Uncertain 11_65653242_C->T 11 65653242 65653242 C T snp 297.77 0/1 99 24 12 12 0.5 intronic rs568617 FIBP AU NM_004214 exon6 c.1690+108C>T 0.305112 0.4147 Uncertain 11_65653309_T->C 11 65653309 65653309 T C snp 46.79 0/1 23 3 1 2 0.67 intronic rs694994 FIBP AU NM_004214 exon6 c.1690+175T>C 0.304712 0.4147 Uncertain 11_65655259_-->CC 11 65655259 65655259 - CC indel 4084.73 0/1 99 194 99 95 0.49 intronic rs2308217 FIBP AU NM_004214 exon8 c.3753+62insCC 0.647564 0.5853 0.7740 0.5703 Uncertain 11_65655393_G->C 11 65655393 65655393 G C snp 2951.77 0/1 99 249 125 124 0.5 intronic rs641018 FIBP AU NM_004214 exon9 c.3960-11G>C 0.305312 0.4147 0.275597 0.2313 0.4435 Uncertain 11_65661656_T->C 11 65661656 65661656 T C snp 1327.77 0/1 99 92 33 59 0.64 intronic rs507062 FOSL1 AU NM_001300856 exon2 c.1236+64T>C 0.309105 0.3938 Uncertain 11_65664346_T->C 11 65664346 65664346 T C snp 2078.77 1/1 99 67 0 67 1.0 exonic rs637571 FOSL1 AU synonymous SNV NM_001300844 exon2 c.A231G p.Q77Q 0.56849 0.746 0.483993 0.5077 0.7662 Uncertain 11_65667796_G->A 11 65667796 65667796 G A snp 409.77 0/1 99 34 19 15 0.44 exonic rs1058068 FOSL1 AU synonymous SNV NM_001300844 exon1 c.C15T p.F5F 0.361821 0.4841 0.213123 0.5503 0.625 Uncertain 11_65684855_A->G 11 65684855 65684855 A G snp 307.78 1/1 24 8 0 8 1.0 UTR3 rs9326360 C11orf68 AU 0.897764 1 Uncertain 11_65684929_C->T 11 65684929 65684929 C T snp 1694.77 1/1 99 50 0 50 1.0 UTR3 rs9667389 C11orf68 AU 0.966054 1 0.962521 0.9887 1 Uncertain 11_65685225_T->C 11 65685225 65685225 T C snp 6265.77 1/1 99 210 0 210 1.0 exonic rs7947504 C11orf68 AU nonsynonymous SNV NM_001135635 exon2 c.A587G p.Q196R 0.897764 1 0.885870 0.9611 1 0.95 T 0.0 P -0.889 T 0.0 T 0.001 T Pathogenic 11_65713207_T->C 11 65713207 65713207 T C snp 3802.77 1/1 99 136 0 136 1.0 exonic rs9795469 TSGA10IP AU unknown 0.999401 1 0.999283 0.9984 1 Uncertain 11_65727301_A->G 11 65727301 65727301 A G snp 146.77 0/1 99 15 9 6 0.4 exonic rs491973 TSGA10IP AU unknown 0.441294 0.5218 0.401575 0.5174 0.6042 Uncertain 11_65732651_G->A 11 65732651 65732651 G A snp 1043.77 0/1 99 85 40 45 0.53 exonic rs550435 SART1 AU synonymous SNV NM_005146 exon4 c.G516A p.A172A 0.439497 0.5218 0.411561 0.4624 0.5100 Uncertain 11_65732800_T->C 11 65732800 65732800 T C snp 1249.77 0/1 99 127 72 55 0.43 intronic rs552130 SART1 AU NM_005146 exon5 c.3561-12T>C 0.560703 0.6706 0.507013 0.5586 0.7127 Uncertain 11_65733289_G->A 11 65733289 65733289 G A snp 1920.77 0/1 99 171 87 84 0.49 intronic rs556643 SART1 AU NM_005146 exon6 c.3999+39G>A 0.486222 0.6706 0.420502 0.4752 0.6788 Uncertain 11_65733393_C->T 11 65733393 65733393 C T snp 2430.77 0/1 99 225 124 101 0.45 exonic rs688862 SART1 AU synonymous SNV NM_005146 exon7 c.C774T p.T258T 0.376398 0.2183 0.448207 0.4671 0.2139 Uncertain 11_65734539_C->T 11 65734539 65734539 C T snp 267.77 0/1 99 34 23 11 0.32 intronic rs1151505 SART1 AU NM_005146 exon10 c.5478-190C>T 0.551118 0.6706 Uncertain 11_65735174_G->C 11 65735174 65735174 G C snp 353.77 0/1 99 39 24 15 0.38 exonic rs660118 SART1 AU nonsynonymous SNV NM_005146 exon12 c.G1454C p.G485A 0.366214 0.5218 0.309065 0.4720 0.5856 0 D 0.995 P -0.959 T 0.271 T 0.054 T ID=CM024558;DIS=Atopy, association with;TAG=DP;PUB=12189166 DP Pathogenic 11_65744275_T->C 11 65744275 65744275 T C snp 1106.77 1/1 81 35 0 35 1.0 intronic rs543952 SART1 AU NM_005146 exon14 c.14986+38T>C 0.766174 0.8323 0.756704 0.8041 0.8431 Uncertain 11_65744421_C->T 11 65744421 65744421 C T snp 1074.77 0/1 99 73 29 44 0.6 intronic rs542332 SART1 AU NM_005146 exon15 c.15233-63C>T 0.448283 0.5218 Uncertain 11_65744597_C->T 11 65744597 65744597 C T snp 543.77 0/1 99 71 46 25 0.35 intronic rs7952056 SART1 AU NM_005146 exon15 c.15321+25C>T 0.232628 0.1617 0.281361 0.3169 0.1610 Uncertain 11_65746653_A->G 11 65746653 65746653 A G snp 526.77 0/1 99 29 11 18 0.62 UTR3 rs679581 SART1 AU 0.413538 0.5198 Uncertain 11_65767153_A->G 11 65767153 65767153 A G snp 1611.77 1/1 99 68 1 67 0.99 intronic rs507672 EIF1AD AU NM_001242486 exon3 c.1077+7A>G 0.748203 0.8333 0.738956 0.8116 0.8363 Uncertain 11_65767215_G->T 11 65767215 65767215 G T snp 1202.77 1/1 90 43 1 42 0.98 intronic rs506873 EIF1AD AU NM_001242486 exon3 c.1077+69G>T 0.748203 0.8333 Uncertain 11_65771051_CACTGAG->- 11 65771051 65771057 CACTGAG - indel 2324.73 0/1 99 56 25 31 0.55 intronic rs147010511 BANF1 AR NM_001143985 exon3 c.375-45_375-39delCACTGAG 0.44389 0.5268 0.385403 0.4493 0.4958 Uncertain 11_65780702_A->G 11 65780702 65780702 A G snp 1267.77 1/1 93 37 0 37 1.0 intronic rs9667817 CST6 AU NM_001323 exon3 c.1272-85A>G 0.988219 1 Uncertain 11_65780938_C->T 11 65780938 65780938 C T snp 1026.77 0/1 99 80 36 44 0.55 UTR3 rs139763518 CST6 AU 0.00439297 0.0218 Uncertain 11_65787666_G->A 11 65787666 65787666 G A snp 1875.77 0/1 99 124 52 72 0.58 exonic rs3829937 CATSPER1 AR synonymous SNV NM_053054 exon9 c.C2070T p.A690A 0.16254 0.1181 0.172002 0.1560 0.1159 Uncertain 11_65788072_C->T 11 65788072 65788072 C T snp 6511.77 1/1 99 244 1 243 1.0 exonic rs3814747 CATSPER1 AR nonsynonymous SNV NM_053054 exon7 c.G1954A p.V652I 0.936502 0.8859 0.962438 0.9796 0.8919 0.76 T 0.000 P -0.941 T 0.147 T 0.02 T Pathogenic 11_65793454_C->T 11 65793454 65793454 C T snp 1334.77 0/1 99 116 59 57 0.49 exonic rs1203998 CATSPER1 AR nonsynonymous SNV NM_053054 exon1 c.G397A p.G133S 0.336462 0.3859 0.333308 0.3048 0.4267 1 T 0.0 P -1.043 T 0.001 T 0.0 T Pathogenic 11_65793942_A->G 11 65793942 65793942 A G snp 311.77 0/1 99 22 10 12 0.55 UTR5 rs947847 CATSPER1 AR 0.33746 0.3859 Uncertain 11_65803053_C->T 11 65803053 65803053 C T snp 123.78 0/1 27 5 1 4 0.8 intergenic rs7120611 CATSPER1 AR 0.771166 0.7639 0.8366 0.7763 Uncertain 11_65803383_T->C 11 65803383 65803383 T C snp 1099.77 0/1 99 74 32 42 0.57 intergenic rs10791840 CATSPER1 AR 0.164736 0.1171 0.1785 0.1582 Uncertain 11_65809875_C->A 11 65809875 65809875 C A snp 44.78 0/1 27 3 1 2 0.67 UTR3 rs1125078 GAL3ST3 AU 0.739417 0.7639 Uncertain 11_65809955_A->G 11 65809955 65809955 A G snp 246.77 0/1 99 24 16 8 0.33 UTR3 rs74907097 GAL3ST3 AU 0.00479233 0.0139 0.0102 0.1091 Uncertain 11_65810045_T->G 11 65810045 65810045 T G snp 948.77 0/1 99 92 47 45 0.49 exonic rs4565902 GAL3ST3 AU nonsynonymous SNV NM_033036 exon3 c.A1229C p.E410A 0.164736 0.1171 0.095633 0.2010 0.1544 0.27 T 0.0 P -0.998 T 0.0 T 0.0 T Pathogenic 11_65810209_C->T 11 65810209 65810209 C T snp 1248.77 0/1 99 139 79 60 0.43 exonic rs61895584 GAL3ST3 AU synonymous SNV NM_033036 exon3 c.G1065A p.P355P 0.751398 0.7649 0.859924 0.8391 0.6985 Uncertain 11_65810239_G->A 11 65810239 65810239 G A snp 1281.77 0/1 99 100 46 54 0.54 exonic rs78578425 GAL3ST3 AU synonymous SNV NM_033036 exon3 c.C1035T p.A345A 0.145168 0.1181 0.1998 0.1746 Uncertain 11_65810749_T->C 11 65810749 65810749 T C snp 7334.77 1/1 99 248 1 247 1.0 exonic rs7937692 GAL3ST3 AU synonymous SNV NM_033036 exon3 c.A525G p.V175V 0.935903 0.881 0.963268 0.9798 0.8860 Uncertain 11_65824994_T->C 11 65824994 65824994 T C snp 151.77 0/1 99 10 4 6 0.6 intronic rs2302883 SF3B2 AU NM_006842 exon7 c.4991+148T>C 0.196685 0.1181 Uncertain 11_65829637_A->C 11 65829637 65829637 A C snp 86.77 0/1 30 4 1 3 0.75 intronic rs11227395 SF3B2 AU NM_006842 exon16 c.9614+168A>C 0.18111 0.1181 Uncertain 11_65829657_G->A 11 65829657 65829657 G A snp 56.74 1/1 6 2 0 2 1.0 intronic rs10750776 SF3B2 AU NM_006842 exon16 c.9614+188G>A 0.965056 1 Uncertain 11_65868310_T->A 11 65868310 65868310 T A snp 7395.77 1/1 99 250 0 250 1.0 intronic rs475817 PACS1 AU NM_018026 exon1 c.356+29997T>A 0.98742 1 0.9994 1 Uncertain 11_65978453_C->T 11 65978453 65978453 C T snp 77.77 0/1 28 4 1 3 0.75 intronic rs10791859 PACS1 AU NM_018026 exon4 c.140647-151C>T 0.221046 0.2946 Uncertain 11_65983522_A->G 11 65983522 65983522 A G snp 459.77 1/1 36 13 0 13 1.0 intronic rs548858 PACS1 AU NM_018026 exon5 c.145632-67A>G 0.971645 1 Uncertain 11_65985000_A->C 11 65985000 65985000 A C snp 3153.77 1/1 99 112 0 112 1.0 intronic rs557082 PACS1 AU NM_018026 exon7 c.146289+754A>C 1 1 0.9999 1 Uncertain 11_65985168_G->A 11 65985168 65985168 G A snp 962.77 0/1 99 69 34 35 0.51 intronic rs512421 PACS1 AU NM_018026 exon7 c.146289+922G>A 0.248602 0.2897 Uncertain 11_65988368_T->G 11 65988368 65988368 T G snp 34.77 0/1 63 7 5 2 0.29 intronic PACS1 AU NM_018026 exon9 c.150305+106T>G Uncertain 11_65997898_A->G 11 65997898 65997898 A G snp 601.77 1/1 45 16 0 16 1.0 intronic rs561948 PACS1 AU NM_018026 exon12 c.160061-120A>G 0.962061 1 Uncertain 11_66001418_C->T 11 66001418 66001418 C T snp 1865.77 0/1 99 141 67 74 0.52 intronic rs2236651 PACS1 AU NM_018026 exon16 c.163453+8C>T 0.211062 0.2887 0.187837 0.1792 0.2769 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000117886.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 11_66002681_G->A 11 66002681 66002681 G A snp 1070.77 0/1 99 79 39 40 0.51 intronic rs2236652 PACS1 AU NM_018026 exon18 c.164814-90G>A 0.210663 0.2887 Uncertain 11_66006323_G->C 11 66006323 66006323 G C snp 996.77 0/1 99 88 45 43 0.49 splicing rs476551 PACS1 AU NM_018026 exon20 c.168360+6G>C 0.227236 0.2907 0.205484 0.2424 0.3530 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000117888.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 11_66010633_T->C 11 66010633 66010633 T C snp 2746.77 1/1 99 94 0 94 1.0 splicing rs524268 PACS1 AU NM_018026 exon24 c.172678-2T>C 0.983027 1 0.982987 0.9954 1 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000117889.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 11_66029130_G->C 11 66029130 66029130 G C snp 101.28 1/1 9 4 0 4 1.0 intronic rs572827 KLC2 AR NM_001134775 exon3 c.3147-82G>C 0.949481 1 Uncertain 11_66030687_A->G 11 66030687 66030687 A G snp 76.28 1/1 9 3 0 3 1.0 intronic rs2155030 KLC2 AR NM_001134774 exon4 c.4442+180A>G 0.194688 0.2887 Uncertain 11_66031450_T->C 11 66031450 66031450 T C snp 4643.77 1/1 99 152 0 152 1.0 intronic rs525698 KLC2 AR NM_001134774 exon6 c.5358+27T>C 0.973642 1 0.971594 0.9920 1 Uncertain 11_66033430_C->T 11 66033430 66033430 C T snp 2007.77 0/1 99 191 105 86 0.45 exonic rs2276036 KLC2 AR nonsynonymous SNV NM_001134774 exon12 c.C1318T p.P440S 0.19369 0.2887 0.173344 0.1790 0.2780 0.48 T 0.289 P -1.103 T 0.0 T 0.001 T Pathogenic 11_66036293_-->CC 11 66036293 66036293 - CC indel 1172.73 ./1 99 56 0 56 1.0 intronic rs150627444 RAB1B AU NM_030981 exon1 c.14+129insCC Uncertain 11_66036293_-->C 11 66036293 66036293 - C indel 1172.73 ./1 99 56 0 56 1.0 intronic rs150627444 RAB1B AU NM_030981 exon1 c.14+129insC 0.749401 0.7192 Uncertain 11_66040053_A->G 11 66040053 66040053 A G snp 1117.77 1/1 84 29 0 29 1.0 intronic rs555826 RAB1B AU NM_030981 exon4 c.3781+122A>G 0.98722 1 Uncertain 11_66043253_T->C 11 66043253 66043253 T C snp 267.77 0/1 99 16 7 9 0.56 intronic rs55931871 RAB1B AU NM_030981 exon5 c.7124-21T>C 0.263379 0.3016 0.213025 0.3802 0.4162 Uncertain 11_66043743_CTT->- 11 66043743 66043745 CTT - indel 2920.73 0/1 99 131 71 60 0.46 UTR3 rs148632819 RAB1B AU 0.19349 0.2887 0.161748 0.1968 0.2833 Uncertain 11_66050948_C->T 11 66050948 66050948 C T snp 1034.77 1/1 75 33 0 33 1.0 intronic rs3016315 CNIH2 AU NM_182553 exon5 c.4935+86C>T 0.986821 1 Uncertain 11_66052832_C->G 11 66052832 66052832 C G snp 1012.77 0/1 99 78 36 42 0.54 intronic rs2282568 YIF1A AU NM_020470 exon3 c.744-19C>G 0.196685 0.2907 0.164203 0.1778 0.2752 Uncertain 11_66054823_C->T 11 66054823 66054823 C T snp 1467.77 1/1 99 43 0 43 1.0 intronic rs510398 YIF1A AU NM_020470 exon5 c.2961-245C>T 0.98722 1 Uncertain 11_66056457_G->A 11 66056457 66056457 G A snp 558.77 0/1 99 67 39 28 0.42 UTR5 rs7945723 YIF1A AU 0.195288 0.2837 0.150523 0.2685 0.3641 Uncertain 11_66099987_C->T 11 66099987 66099987 C T snp 1683.77 0/1 99 144 76 68 0.47 exonic rs1784029 RIN1 AU synonymous SNV NM_004292 exon10 c.G2112A p.A704A 0.560703 0.5595 0.556351 0.6670 0.5242 Uncertain 11_66100152_T->C 11 66100152 66100152 T C snp 2515.77 1/1 99 95 0 95 1.0 exonic rs1784030 RIN1 AU synonymous SNV NM_004292 exon10 c.A1947G p.E649E 0.967452 1 0.969506 0.9910 1 Uncertain 11_66101974_C->T 11 66101974 66101974 C T snp 1708.77 1/1 99 67 0 67 1.0 intronic rs3016317 RIN1 AU NM_004292 exon5 c.2238-10C>T 0.746605 0.8333 0.751195 0.8710 0.8196 Uncertain 11_66101978_G->A 11 66101978 66101978 G A snp 781.77 0/1 99 67 29 38 0.57 intronic rs10896110 RIN1 AU NM_004292 exon5 c.2238-6G>A 0.172524 0.2748 0.175555 0.2276 0.3190 Uncertain 11_66102807_G->A 11 66102807 66102807 G A snp 805.77 0/1 99 66 32 34 0.52 intronic rs10444359 RIN1 AU NM_004292 exon6 c.3131-70G>A 0.172324 0.2748 Uncertain 11_66103046_C->T 11 66103046 66103046 C T snp 3348.77 1/1 99 122 0 122 1.0 intronic rs3016763 RIN1 AU NM_004292 exon7 c.3334-34C>T 0.922324 1 0.918245 0.9780 1 Uncertain 11_66104057_T->A 11 66104057 66104057 T A snp 1341.77 1/1 99 43 0 43 1.0 upstream;downstream rs3016316 RIN1;BRMS1 UN 0.746805 0.8343 Uncertain 11_66105194_G->A 11 66105194 66105194 G A snp 473.77 0/1 99 28 13 15 0.54 exonic rs1052566 BRMS1 AU nonsynonymous SNV NM_001024957 exon10 c.C818T p.A273V 0.266773 0.3284 0.224781 0.3557 0.3732 0.29 T 0.000 P -0.930 T 0.0 T 0.0 T Pathogenic 11_66105817_C->T 11 66105817 66105817 C T snp 308.77 0/1 99 21 8 13 0.62 intronic rs2276106 BRMS1 AU NM_015399 exon2 c.401+64C>T 0.282947 0.3641 0.219667 Uncertain 11_66107527_C->A 11 66107527 66107527 C A snp 1849.77 0/1 99 192 107 85 0.44 intronic rs1785633 BRMS1 AU NM_015399 exon4 c.2239-64C>A 0.567292 0.5556 Uncertain 11_66107674_A->G 11 66107674 66107674 A G snp 2833.77 1/1 99 96 0 96 1.0 exonic rs1784035 BRMS1 AU synonymous SNV NM_001024957 exon7 c.T546C p.D182D 0.966853 1 0.968514 0.9912 1 1.000 P Uncertain 11_66108660_C->T 11 66108660 66108660 C T snp 897.77 0/1 99 88 51 37 0.42 intronic rs947978 BRMS1 AU NM_015399 exon7 c.3324-16C>T 0.566893 0.5556 0.556659 0.6684 0.5221 Uncertain 11_66108894_G->C 11 66108894 66108894 G C snp 2697.77 0/1 99 246 141 105 0.43 intronic rs2236679 BRMS1 AU NM_015399 exon7 c.3452+90G>C 0.359625 0.4444 Uncertain 11_66109527_-->TGTGTGTG 11 66109527 66109527 - TGTGTGTG indel 1272.73 0/1 99 57 40 17 0.3 intronic rs112182142 BRMS1 AU NM_015399 exon9 c.4214-39insTGTGTGTG 0.0121805 0.0089 0.0114 0.0088 Uncertain 11_66109779_A->G 11 66109779 66109779 A G snp 1155.77 1/1 84 34 0 34 1.0 intronic rs1784037 BRMS1 AU NM_015399 exon9 c.4360+67A>G 0.926118 1 Uncertain 11_66109780_T->A 11 66109780 66109780 T A snp 1176.77 1/1 87 34 0 34 1.0 intronic rs1785632 BRMS1 AU NM_015399 exon9 c.4360+68T>A 0.926118 1 Uncertain 11_66130736_A->G 11 66130736 66130736 A G snp 266.8 1/1 21 10 0 10 1.0 UTR3 rs1039593 SLC29A2 AU 0.944289 1 0.9842 1 Uncertain 11_66131149_C->T 11 66131149 66131149 C T snp 448.77 0/1 99 37 19 18 0.49 intronic rs1039594 SLC29A2 AU NM_001532 exon1 c.112+131C>T 0.569888 0.5694 Uncertain 11_66131906_A->G 11 66131906 66131906 A G snp 928.77 1/1 69 28 0 28 1.0 intronic rs7125100 SLC29A2 AU NM_001532 exon2 c.989+11A>G 0.967053 1 0.968297 0.9914 1 Uncertain 11_66133311_T->C 11 66133311 66133311 T C snp 1827.77 1/1 99 58 0 58 1.0 intronic rs4930358 SLC29A2 AU NM_001532 exon3 c.2500-95T>C 0.925519 1 Uncertain 11_66133336_A->G 11 66133336 66133336 A G snp 1220.77 0/1 99 89 38 51 0.57 intronic rs2279861 SLC29A2 AU NM_001532 exon3 c.2500-70A>G 0.572284 0.5833 Uncertain 11_66134085_C->T 11 66134085 66134085 C T snp 231.77 0/1 99 16 7 9 0.56 intronic rs8187658 SLC29A2 AU NM_001532 exon5 c.3129+50C>T 0.154153 0.2589 0.167513 0.1848 0.2847 Uncertain 11_66135179_C->T 11 66135179 66135179 C T snp 1733.77 0/1 99 125 59 66 0.53 intronic rs2279862 SLC29A2 AU NM_001532 exon7 c.4336-63C>T 0.572484 0.5833 Uncertain 11_66135898_T->C 11 66135898 66135898 T C snp 779.77 1/1 57 28 0 28 1.0 intronic rs2292123 SLC29A2 AU NM_001532 exon8 c.5101-109T>C 0.923323 0.9891 Uncertain 11_66138894_G->C 11 66138894 66138894 G C snp 1991.77 1/1 99 66 0 66 1.0 intronic rs7946434 SLC29A2 AU NM_001532 exon11 c.7890+98G>C 0.997404 1 Uncertain 11_66206169_C->T 11 66206169 66206169 C T snp 486.77 0/1 99 41 21 20 0.49 exonic rs11110 MRPL11 AU synonymous SNV NM_016050 exon1 c.G57A p.V19V 0.23123 0.2798 0.254345 0.2687 0.3128 Uncertain 11_66258916_G->A 11 66258916 66258916 G A snp 2525.77 1/1 99 91 0 91 1.0 intronic rs1700189 DPP3 AU NM_130443 exon8 c.9293-48G>A 0.386781 0.4524 0.321731 0.4379 0.4728 Uncertain 11_66261206_G->C 11 66261206 66261206 G C snp 923.77 0/1 99 67 29 38 0.57 intronic rs79970409 DPP3 AU NM_130443 exon12 c.11433+102G>C 0.0103834 0.0496 Uncertain 11_66262806_T->C 11 66262806 66262806 T C snp 2301.77 1/1 99 86 0 86 1.0 intronic rs10791878 DPP3 AU NM_130443 exon14 c.13164-29T>C 0.998602 0.9931 0.9995 0.9932 Uncertain 11_66278059_C->G 11 66278059 66278059 C G snp 1932.77 1/1 99 53 0 53 1.0 upstream;downstream rs1791688 BBS1;DPP3 UN 0.993411 0.9673 Uncertain 11_66321761_C->A 11 66321761 66321761 C A snp 54.74 1/1 6 2 0 2 1.0 intronic rs10896127 ACTN3 AU NM_001104 exon4 c.7194+159C>A Uncertain 11_66322129_C->T 11 66322129 66322129 C T snp 781.77 0/1 99 74 38 36 0.49 intronic rs140173495 ACTN3 AU NM_001104 exon5 c.7686+35C>T 0.000199681 0.001 0.000237 9.403e-05 0.0013 Uncertain 11_66322141_G->A 11 66322141 66322141 G A snp 849.77 0/1 99 58 23 35 0.6 intronic ACTN3 AU NM_001104 exon5 c.7686+47G>A Uncertain 11_66358126_C->T 11 66358126 66358126 C T snp 3754.77 1/1 99 138 1 137 0.99 exonic rs486584 CCDC87 AU synonymous SNV NM_018219 exon1 c.G2361A p.L787L 0.425519 0.4484 0.414473 0.5128 0.4511 Uncertain 11_66359338_C->T 11 66359338 66359338 C T snp 1422.77 0/1 99 109 54 55 0.5 exonic CCDC87 AU synonymous SNV NM_018219 exon1 c.G1149A p.G383G Uncertain 11_66406070_A->C 11 66406070 66406070 A C snp 2223.77 1/1 99 86 2 84 0.98 intronic rs670900 RBM14-RBM4 AU NM_001198845 exon2 c.26729-4850A>C 0.987819 1 Uncertain 11_66456387_T->C 11 66456387 66456387 T C snp 3609.77 1/1 99 117 1 116 0.99 intronic rs2276138 SPTBN2 AR,AD NM_006946 exon8 c.2979+67T>C 0.429513 0.4355 Uncertain 11_66457661_C->T 11 66457661 66457661 C T snp 2681.77 0/1 99 215 105 110 0.51 exonic rs756807663 SPTBN2 AR,AD nonsynonymous SNV NM_006946 exon27 c.G5659A p.E1887K 1.677e-05 0 0.38 T 0.998 D -1.049 T 0.729 T 0.221 P Pathogenic 11_66458696_C->T 11 66458696 66458696 C T snp 1206.77 1/1 90 40 0 40 1.0 intronic rs12804382 SPTBN2 AR,AD NM_006946 exon12 c.5413-58C>T 0.422324 0.4355 Uncertain 11_66469032_T->C 11 66469032 66469032 T C snp 1210.77 0/1 99 123 65 58 0.47 intronic rs532439 SPTBN2 AR,AD NM_006946 exon23 c.15713-22T>C 0.753395 0.8244 0.714319 0.7795 0.8285 Uncertain 11_66472274_T->C 11 66472274 66472274 T C snp 2218.77 1/1 99 76 0 76 1.0 exonic rs4930388 SPTBN2 AR,AD nonsynonymous SNV NM_006946 exon14 c.A2473G p.S825G 0.987819 1 0.988149 0.9969 1 0.46 T 0.001 P -0.961 T 0.0 T 0.0 T Pathogenic 11_66481264_C->T 11 66481264 66481264 C T snp 883.77 1/1 63 32 0 32 1.0 intronic rs615536 SPTBN2 AR,AD NM_006946 exon31 c.27876+47C>T 0.884185 0.8929 0.892071 0.9265 0.8950 Uncertain 11_66483265_A->G 11 66483265 66483265 A G snp 1925.77 1/1 99 69 0 69 1.0 intronic rs12805133 SPTBN2 AR,AD NM_006946 exon35 c.29959-35A>G 0.441693 0.4296 0.405851 0.4811 0.4397 Uncertain 11_66488787_C->T 11 66488787 66488787 C T snp 116.77 0/1 99 18 12 6 0.33 intronic SPTBN2 AR,AD NM_006946 exon37 c.35479-33C>T Uncertain 11_66512290_-->GGC 11 66512290 66512290 - GGC indel 2445.73 1/1 99 54 0 54 1.0 exonic rs567536854 C11orf80 AU nonframeshift insertion NM_024650 exon1 c.77_78insGGC p.G26delinsGA 0.352484 0.5978 0.4762 ID=COSM930929;OCCURENCE=2(endometrium) Uncertain 11_66563724_G->C 11 66563724 66563724 G C snp 925.77 0/1 99 80 38 42 0.53 intronic rs764771894 C11orf80 AU NM_001302084 exon4 c.37209-27G>C 0.0002 0.0019 Uncertain 11_66568716_T->- 11 66568716 66568716 T - indel 596.73 0/1 99 54 24 30 0.56 intronic rs542039588 C11orf80 AU NM_001302084 exon6 c.42031+143delT 0.00319489 0.0149 Uncertain 11_66590248_G->A 11 66590248 66590248 G A snp 113.77 0/1 99 10 6 4 0.4 intronic C11orf80 AU NM_001302084 exon11 c.63603+103G>A Uncertain 11_66612580_G->C 11 66612580 66612580 G C snp 2389.77 0/1 99 172 80 92 0.53 intronic RCE1 AU NM_001032279 exon6 c.1186-56G>C Uncertain 11_66628249_G->A 11 66628249 66628249 G A snp 99.28 1/1 9 3 0 3 1.0 intronic rs2513658 PC AR NM_022172 exon12 c.14875-2995G>A 0.465056 0.4177 Uncertain 11_66812338_A->G 11 66812338 66812338 A G snp 1386.77 1/1 99 36 0 36 1.0 intronic rs11227668 SYT12 AU NM_177963 exon6 c.14569+154A>G 0.788139 0.7927 Uncertain 11_66833265_G->A 11 66833265 66833265 G A snp 1309.77 1/1 96 40 0 40 1.0 intronic rs12803688 RHOD AU NM_014578 exon2 c.8993-101G>A 0.604832 0.5893 Uncertain 11_66833327_G->A 11 66833327 66833327 G A snp 4296.77 1/1 99 160 0 160 1.0 intronic rs12287978 RHOD AU NM_014578 exon2 c.8993-39G>A 0.4373 0.4534 0.354426 0.4111 0.4670 Uncertain 11_66833391_C->T 11 66833391 66833391 C T snp 2114.77 0/1 99 246 142 104 0.42 exonic rs185607856 RHOD AU nonsynonymous SNV NM_014578 exon2 c.C157T p.R53W 0.000798722 0.0003 0.0001 0 D 1 D -0.233 T 0.998 D 0.873 D Pathogenic 11_66834252_C->T 11 66834252 66834252 C T snp 4240.77 1/1 99 156 0 156 1.0 exonic rs2282502 RHOD AU synonymous SNV NM_014578 exon3 c.C264T p.D88D 0.381789 0.4524 0.304696 0.3901 0.4598 Uncertain 11_66837965_T->C 11 66837965 66837965 T C snp 2325.77 1/1 99 79 0 79 1.0 exonic rs4930409 RHOD AU nonsynonymous SNV NM_001300886 exon2 c.T202C p.C68R 0.999401 1 0.999846 1.0000 1 1 T 0.828 P -0.929 T 0.0 T 0.0 T Pathogenic 11_66995603_T->C 11 66995603 66995603 T C snp 3844.77 1/1 99 142 0 142 1.0 exonic rs3741189 KDM2A AU synonymous SNV NM_012308 exon11 c.T1053C p.T351T 0.944888 0.9425 0.961865 0.9730 0.9529 Uncertain 11_67017445_-->A 11 67017445 67017445 - A indel 2915.73 1/1 99 65 0 65 1.0 intronic rs34463980 KDM2A AU NM_012308 exon17 c.128769-111insA 0.992013 1 Uncertain 11_67034266_C->A 11 67034266 67034266 C A snp 1007.77 1/1 72 39 0 39 1.0 exonic rs2228418 ADRBK1 AU synonymous SNV NM_001619 exon1 c.C96A p.I32I 0.648762 0.746 0.742530 0.8793 0.7975 Uncertain 11_67050292_G->A 11 67050292 67050292 G A snp 6823.77 1/1 99 232 0 232 1.0 splicing rs2071007 ADRBK1 AU NM_001619 exon14 c.16119+3G>A 0.65016 0.7421 0.722941 0.8197 0.7578 Pathogenic 11_67052466_G->A 11 67052466 67052466 G A snp 4054.77 1/1 99 145 0 145 1.0 intronic rs10896164 ADRBK1 AU NM_001619 exon19 c.18284+12G>A 0.6877 0.7986 0.757449 0.8420 0.8127 Uncertain 11_67057093_C->- 11 67057093 67057093 C - indel 74.73 0/1 62 12 5 7 0.58 intronic rs368498130 ANKRD13D AU NM_207354 exon1 c.90+72delC Uncertain 11_67057104_C->G 11 67057104 67057104 C G snp 201.77 0/1 71 14 6 8 0.57 intronic rs11227758 ANKRD13D AU NM_207354 exon1 c.90+83C>G Uncertain 11_67068572_C->T 11 67068572 67068572 C T snp 8016.77 1/1 99 250 0 250 1.0 exonic rs76948867 ANKRD13D AU synonymous SNV NM_207354 exon11 c.C1185T p.R395R 0.0107827 0.0516 0.000154 0.0035 0.0392 Uncertain 11_67068859_T->C 11 67068859 67068859 T C snp 6864.77 1/1 99 247 0 247 1.0 exonic rs2298815 ANKRD13D AU synonymous SNV NM_207354 exon12 c.T1338C p.V446V 0.894768 0.8859 0.908006 0.9426 0.8843 Uncertain 11_67071584_C->G 11 67071584 67071584 C G snp 3043.77 1/1 99 108 0 108 1.0 splicing rs4244822 SSH3 AU NM_017857 exon2 c.492-4C>G 0.910743 0.8879 0.927638 0.9520 0.8926 Pathogenic 11_67076810_T->G 11 67076810 67076810 T G snp 4637.77 1/1 99 165 1 164 0.99 intronic rs3737460 SSH3 AU NM_017857 exon11 c.5771-57T>G 0.911542 0.8879 Uncertain 11_67166734_C->T 11 67166734 67166734 C T snp 68.77 0/1 97 9 6 3 0.33 intronic rs575095527 PPP1CA AU NM_002708 exon3 c.629+100C>T 0.000399361 Uncertain 11_67177278_G->A 11 67177278 67177278 G A snp 2844.77 1/1 99 108 0 108 1.0 UTR3 rs7122299 TBC1D10C AU 0.997204 1 Uncertain 11_67196237_T->C 11 67196237 67196237 T C snp 1170.77 1/1 87 31 0 31 1.0 intronic rs1476792 RPS6KB2 AU NM_003952 exon1 c.78+143T>C 0.504593 0.3284 Uncertain 11_67196544_C->G 11 67196544 67196544 C G snp 3113.77 0/1 99 225 91 134 0.6 intronic rs917570 RPS6KB2 AU NM_003952 exon3 c.574-46C>G 0.233427 0.1548 0.341848 0.3080 0.1404 Uncertain 11_67199706_C->A 11 67199706 67199706 C A snp 2255.77 1/1 99 81 0 81 1.0 intronic rs1638588 RPS6KB2 AU NM_003952 exon6 c.4054-364C>A 0.505591 0.3254 Uncertain 11_67200819_C->T 11 67200819 67200819 C T snp 5078.77 1/1 99 203 2 201 0.99 exonic rs4930427 RPS6KB2 AU synonymous SNV NM_003952 exon10 c.C807T p.F269F 0.35603 0.3264 0.384628 0.3872 0.2863 Uncertain 11_67201008_C->T 11 67201008 67201008 C T snp 912.77 1/1 69 25 0 25 1.0 intronic rs1790753 RPS6KB2 AU NM_003952 exon10 c.4902+90C>T 0.486821 0.3264 Uncertain 11_67201615_C->T 11 67201615 67201615 C T snp 2396.77 0/1 99 250 146 104 0.42 intronic rs56326725 RPS6KB2 AU NM_003952 exon12 c.5652-53C>T 0.0415335 0.0794 0.022996 Uncertain 11_67202044_G->A 11 67202044 67202044 G A snp 5363.77 1/1 99 199 0 199 1.0 intronic rs1790752 RPS6KB2 AU NM_003952 exon14 c.6036-8G>A 0.485024 0.3254 0.530231 0.4363 0.3069 Uncertain 11_67202156_C->T 11 67202156 67202156 C T snp 1256.77 1/1 96 39 0 39 1.0 exonic rs13859 RPS6KB2 AU nonsynonymous SNV NM_003952 exon14 c.C1259T p.A420V 0.486821 0.3264 0.526032 0.4291 0.2970 0.08 T 1.0 P -0.963 T 0.003 T 0.009 T ID=CM1212310;DIS=Mean cell volume, association with;TAG=DP;PUB=23222517 DP Pathogenic 11_67205978_G->A 11 67205978 67205978 G A snp 2938.77 1/1 99 109 0 109 1.0 splicing rs872375 CORO1B AU NM_020441 exon1 c.126+6G>A 0.354433 0.3274 0.384918 0.3896 0.2879 Pathogenic 11_67207426_G->A 11 67207426 67207426 G A snp 554.77 1/1 42 14 0 14 1.0 intronic rs2302264 CORO1B AU NM_020441 exon3 c.1468+112G>A 0.353634 0.3244 Uncertain 11_67209515_C->T 11 67209515 67209515 C T snp 1710.77 0/1 99 162 92 70 0.43 exonic rs111451405 CORO1B AU synonymous SNV NM_020441 exon3 c.G246A p.T82T 0.0443291 0.0347 0.003233 0.0401 0.0268 Uncertain 11_67209869_T->G 11 67209869 67209869 T G snp 621.77 0/1 99 34 15 19 0.56 intronic rs80182011 CORO1B AU NM_020441 exon10 c.4052-29T>G 0.0477236 0.0347 0.008392 0.0417 0.0272 Uncertain 11_67223920_C->G 11 67223920 67223920 C G snp 3156.77 1/1 99 105 0 105 1.0 intronic rs1638564 CABP4 AR NM_145200 exon3 c.1019+7C>G 0.506589 0.3234 0.273714 0.4291 0.2852 Uncertain 11_67223921_A->C 11 67223921 67223921 A C snp 3124.77 1/1 99 103 1 102 0.99 intronic rs1638565 CABP4 AR NM_145200 exon3 c.1019+8A>C 0.506589 0.3234 0.268325 0.4285 0.2842 Uncertain 11_67224988_C->T 11 67224988 67224988 C T snp 1365.77 0/1 99 123 56 67 0.54 intronic rs17501521 CABP4 AR NM_145200 exon4 c.2149-55C>T 0.188498 0.1081 Uncertain 11_67235351_A->G 11 67235351 67235351 A G snp 54.74 1/1 6 3 0 3 1.0 intronic rs3741168 TMEM134 AU NM_025124 exon6 c.3414-147A>G 0.508986 0.3284 Uncertain 11_67257037_C->T 11 67257037 67257037 C T snp 3330.77 1/1 99 125 1 124 0.99 intronic rs4084113 AIP AR,AD,AO,AU NM_001302959 exon3 c.2372+111C>T 0.276757 0.1865 0.4161 0.2844 Uncertain 11_67257273_G->T 11 67257273 67257273 G T snp 502.77 1/1 39 16 0 16 1.0 intronic rs611697 AIP AR,AD,AO,AU NM_001302959 exon4 c.2954-235G>T 0.853235 1 Uncertain 11_67257823_C->A 11 67257823 67257823 C A snp 5398.77 1/1 99 207 0 207 1.0 exonic rs641081 AIP AR,AD,AO,AU nonsynonymous SNV NM_003977 exon5 c.C682A p.Q228K 0.845447 1 0.834257 0.9550 1 1 T 0.0 P -0.952 T 0.0 T 0.0 T ID=CM157185;DIS=Pituitary adenoma, susceptibility to;TAG=DP;PUB=25938168 DP Pathogenic 11_67258391_A->G 11 67258391 67258391 A G snp 3737.77 1/1 99 143 0 143 1.0 exonic rs4930199 AIP AR,AD,AO,AU nonsynonymous SNV NM_003977 exon6 c.A920G p.Q307R 0.999401 1 0.999769 0.9999 1 1 T 0.0 P -0.939 T 0.0 T 0.0 T ID=CM157188;DIS=Pituitary adenoma, susceptibility to;TAG=DP;PUB=25938168 DP Pathogenic 11_67258524_G->C 11 67258524 67258524 G C snp 638.77 0/1 99 62 34 28 0.45 UTR3 rs146014363 AIP AR,AD,AO,AU 0.0201677 0.0813 Uncertain 11_67260667_G->A 11 67260667 67260667 G A snp 458.77 0/1 99 31 17 14 0.45 intronic rs17847833 PITPNM1 AU NM_001130848 exon2 c.1030+134G>A 0.00259585 0.0129 Uncertain 11_67262282_-->GA 11 67262282 67262282 - GA indel 1208.73 0/1 99 80 48 32 0.4 intronic rs202207490 PITPNM1 AU NM_001130848 exon7 c.2813-34insGA 0.350839 0.4325 0.9457 0.9947 Uncertain 11_67262286_T->A 11 67262286 67262286 T A snp 1212.77 0/1 99 85 28 57 0.67 intronic rs12789119 PITPNM1 AU NM_001130848 exon7 c.2813-30T>A 0.28155 0.1875 0.0012 0.0010 Uncertain 11_67262289_G->A 11 67262289 67262289 G A snp 1272.77 0/1 99 87 28 59 0.68 intronic rs7932071 PITPNM1 AU NM_001130848 exon7 c.2813-27G>A 0.844449 0.9881 0.0105 0.0060 Uncertain 11_67262289_-->CGAGAGGA 11 67262289 67262289 - CGAGAGGA indel 5963.73 1/1 99 87 1 86 0.99 intronic rs59817710 PITPNM1 AU NM_001130848 exon7 c.2813-27insCGAGAGGA 0.323642 0.3610 0.1723 Uncertain 11_67263144_C->T 11 67263144 67263144 C T snp 264.77 0/1 99 18 9 9 0.5 intronic rs17847842 PITPNM1 AU NM_001130848 exon9 c.3570+71C>T 0.0205671 0.0804 Uncertain 11_67263767_A->G 11 67263767 67263767 A G snp 1246.77 1/1 90 41 0 41 1.0 exonic rs618633 PITPNM1 AU synonymous SNV NM_004910 exon15 c.T2199C p.A733A 0.932308 0.9891 0.925932 0.9784 0.9799 Uncertain 11_67264679_C->T 11 67264679 67264679 C T snp 971.77 1/1 72 34 0 34 1.0 intronic rs2276120 PITPNM1 AU NM_001130848 exon11 c.5198-22C>T 0.291933 0.1925 0.347353 0.3862 0.1935 Uncertain 11_67265814_C->A 11 67265814 67265814 C A snp 1097.77 0/1 99 96 47 49 0.51 intronic rs2298588 PITPNM1 AU NM_001130848 exon14 c.6290+21C>A 0.0219649 0.0784 0.003315 0.0154 0.0868 Uncertain 11_67267043_-->CCAA 11 67267043 67267043 - CCAA indel 1082.73 1/1 69 23 0 23 1.0 intronic rs150865355 PITPNM1 AU NM_001130848 exon17 c.7690-150insCCAA Uncertain 11_67351297_G->A 11 67351297 67351297 G A snp 659.77 0/1 99 60 28 32 0.53 UTR5 rs8191439 GSTP1 AU 0.0469249 0.0288 0.009019 0.0894 0.0631 Uncertain 11_67351529_-->G 11 67351529 67351529 - G indel 222.73 0/1 99 32 21 11 0.34 intronic rs145589007 GSTP1 AU NM_000852 exon2 c.290-75insG 0.421746 Uncertain 11_67351531_G->A 11 67351531 67351531 G A snp 544.77 0/1 99 33 12 21 0.64 intronic rs1079719 GSTP1 AU NM_000852 exon2 c.290-73G>A 0.310903 0.1567 Uncertain 11_67351540_A->G 11 67351540 67351540 A G snp 1378.77 1/1 99 46 0 46 1.0 intronic rs1871041 GSTP1 AU NM_000852 exon2 c.290-64A>G 0.88119 0.8621 Uncertain 11_67351774_C->T 11 67351774 67351774 C T snp 744.77 0/1 99 46 19 27 0.59 intronic rs2370143 GSTP1 AU NM_000852 exon2 c.326+134C>T 0.242812 0.1558 Uncertain 11_67352256_C->A 11 67352256 67352256 C A snp 1093.77 0/1 99 100 51 49 0.49 intronic rs762803 GSTP1 AU NM_000852 exon4 c.929+13C>A 0.311901 0.1567 0.410179 0.3512 0.1592 Uncertain 11_67352689_A->G 11 67352689 67352689 A G snp 6106.77 1/1 99 213 0 213 1.0 exonic rs1695 GSTP1 AU nonsynonymous SNV NM_000852 exon5 c.A313G p.I105V 0.352636 0.1786 0.360837 0.3335 0.1807 1 T 0.999 P -0.938 T 0.0 T 0.0 T ID=CM990713;DIS=Oral cancer, association with;TAG=DFP;PUB=10376763 DFP Pathogenic 11_67353844_C->T 11 67353844 67353844 C T snp 2777.77 0/1 99 250 133 117 0.47 intronic rs1871042 GSTP1 AU NM_000852 exon7 c.2545-15C>T 0.248203 0.1468 0.314245 0.2879 0.1542 Uncertain 11_67353970_T->C 11 67353970 67353970 T C snp 5290.77 1/1 99 201 0 201 1.0 exonic rs4891 GSTP1 AU synonymous SNV NM_000852 exon7 c.T555C p.S185S 0.35603 0.1736 0.378287 0.3404 0.1775 Uncertain 11_67372477_G->T 11 67372477 67372477 G T snp 2663.77 1/1 99 95 0 95 1.0 ncRNA_exonic rs12421329 C11orf72 AU 0.323283 0.1935 0.354019 0.3735 0.2056 0 D -0.965 T 0.914 T 0.752 D Uncertain 11_67372593_A->C 11 67372593 67372593 A C snp 214.84 1/1 18 6 0 6 1.0 ncRNA_intronic rs12793832 C11orf72 AU 0.323482 0.1935 Uncertain 11_67374581_T->C 11 67374581 67374581 T C snp 2731.77 1/1 99 89 0 89 1.0 intronic rs1871043 NDUFV1 AR,XD,AO NM_007103 exon1 c.72+34T>C 0.428315 0.1964 0.429864 0.4048 0.2201 Uncertain 11_67375162_T->C 11 67375162 67375162 T C snp 450.77 1/1 36 15 0 15 1.0 intronic rs1382089 NDUFV1 AR,XD,AO NM_007103 exon1 c.72+615T>C 0.957867 1 Uncertain 11_67375184_T->G 11 67375184 67375184 T G snp 224.84 1/1 18 6 0 6 1.0 intronic rs7948073 NDUFV1 AR,XD,AO NM_007103 exon1 c.72+637T>G 0.437899 0.1964 Uncertain 11_67395714_C->T 11 67395714 67395714 C T snp 2162.77 0/1 99 190 101 89 0.47 exonic rs7124513 NUDT8 AU synonymous SNV NM_001243750 exon4 c.G414A p.E138E 0.232827 0.127 0.276067 0.2815 0.1227 Uncertain 11_67396219_T->C 11 67396219 67396219 T C snp 43.77 0/1 72 4 2 2 0.5 intronic rs61894499 NUDT8 AU NM_001243750 exon3 c.973-170T>C 0.14976 0.0704 Uncertain 11_67397251_G->C 11 67397251 67397251 G C snp 693.77 0/1 99 57 25 32 0.56 exonic rs17851655 NUDT8 AU synonymous SNV NM_001243750 exon1 c.C132G p.V44V 0.14976 0.0704 0.130556 0.1462 0.0920 Uncertain 11_67399601_C->G 11 67399601 67399601 C G snp 80.77 0/1 96 6 3 3 0.5 intronic rs1551884 TBX10 AU NM_005995 exon2 c.713-187C>G 0.232228 0.13 Uncertain 11_67399735_T->C 11 67399735 67399735 T C snp 5047.77 1/1 99 174 0 174 1.0 intronic rs2514021 TBX10 AU NM_005995 exon2 c.713-53T>C 0.987021 1 0.985953 Uncertain 11_67399914_G->T 11 67399914 67399914 G T snp 1061.77 0/1 99 96 53 43 0.45 intronic rs11227869 TBX10 AU NM_005995 exon2 c.808+31G>T 0.182109 0.0704 0.175189 0.1258 0.0714 Uncertain 11_67400235_T->C 11 67400235 67400235 T C snp 74.77 0/1 99 8 5 3 0.38 intronic rs10896189 TBX10 AU NM_005995 exon3 c.1066+94T>C 0.211262 0.0714 Uncertain 11_67400622_G->A 11 67400622 67400622 G A snp 1070.77 0/1 99 72 35 37 0.51 intronic rs61894500 TBX10 AU NM_005995 exon4 c.1499+48G>A 0.129593 0.0704 0.126732 0.1104 0.0708 Uncertain 11_67401635_G->C 11 67401635 67401635 G C snp 1331.77 0/1 99 94 40 54 0.57 intronic rs12787511 TBX10 AU NM_005995 exon5 c.2584-24G>C 0.217053 0.13 0.252002 0.2564 0.1216 Uncertain 11_67402362_T->G 11 67402362 67402362 T G snp 1147.77 0/1 99 106 56 50 0.47 exonic rs3758938 TBX10 AU nonsynonymous SNV NM_005995 exon3 c.A302C p.K101T 0.217252 0.131 0.252926 0.2569 0.1231 0 D 0.926 P -1.097 T 0.999 D 0.986 D ID=CM067720;DIS=Lung cancer, susceptibility to, association with;TAG=DP;PUB=16741161 DP Pathogenic 11_67402744_G->A 11 67402744 67402744 G A snp 1001.77 0/1 99 86 44 42 0.49 intronic rs59223436 TBX10 AU NM_005995 exon7 c.3659+10G>A 0.0990415 0.0665 0.105328 0.1051 0.0697 Uncertain 11_67406829_T->C 11 67406829 67406829 T C snp 195.77 0/1 99 10 3 7 0.7 intronic rs1993839 TBX10 AU NM_005995 exon8 c.7861-107T>C 0.15016 0.0764 Uncertain 11_67407146_T->C 11 67407146 67407146 T C snp 629.77 1/1 48 22 0 22 1.0 upstream rs2447591 TBX10 AU 0.968251 1 Uncertain 11_67412203_-->CA 11 67412203 67412203 - CA indel 237.73 0/1 99 18 6 12 0.67 intronic rs143278298 ACY3 AU NM_080658 exon2 c.2036-27insCA 0.595647 0.6151 0.4476 0.4444 Uncertain 11_67412771_G->C 11 67412771 67412771 G C snp 1230.77 0/1 99 132 76 56 0.42 exonic rs17148450 ACY3 AU synonymous SNV NM_080658 exon5 c.C513G p.A171A 0.0593051 0.1508 0.065599 0.0743 0.1270 Uncertain 11_67414246_T->C 11 67414246 67414246 T C snp 2141.77 0/1 99 223 123 100 0.45 intronic rs948444 ACY3 AU NM_080658 exon6 c.4084-32T>C 0.189896 0.1518 0.198782 0.1464 0.1541 Uncertain 11_67430589_A->G 11 67430589 67430589 A G snp 682.77 0/1 99 41 15 26 0.63 UTR3 rs78402723 ALDH3B2 AU 0.871206 0.9107 Uncertain 11_67430698_G->A 11 67430698 67430698 G A snp 893.77 0/1 99 116 72 44 0.38 exonic rs3741172 ALDH3B2 AU synonymous SNV NM_000695 exon10 c.C1146T p.C382C 0.0692891 0.0903 0.087157 0.0812 0.0865 1.0 P -1.052 T Likely benign 11_67430762_T->C 11 67430762 67430762 T C snp 1537.77 0/1 99 111 50 61 0.55 exonic rs1551886 ALDH3B2 AU nonsynonymous SNV NM_000695 exon10 c.A1082G p.H361R 0.868011 0.9097 0.850400 0.9042 0.9138 1 T 0.000 P -1.035 T 0.0 T 0.0 T Pathogenic 11_67431038_G->A 11 67431038 67431038 G A snp 544.77 0/1 99 69 47 22 0.32 intronic rs1979375 ALDH3B2 AU NM_001031615 exon2 c.447-94G>A 0.859225 0.9097 Uncertain 11_67431110_G->A 11 67431110 67431110 G A snp 1129.77 0/1 99 120 71 49 0.41 intronic rs1979376 ALDH3B2 AU NM_001031615 exon2 c.447-22G>A 0.859026 0.9097 0.838312 0.9020 0.9141 Uncertain 11_67431400_C->T 11 67431400 67431400 C T snp 128.77 0/1 99 10 5 5 0.5 intronic rs79151892 ALDH3B2 AU NM_001031615 exon2 c.547+168C>T 0.0744808 0.0903 Uncertain 11_67431914_G->A 11 67431914 67431914 G A snp 1413.77 0/1 99 115 51 64 0.56 exonic rs17856219 ALDH3B2 AU nonsynonymous SNV NM_000695 exon8 c.C826T p.R276W 0.0708866 0.0903 0.088620 0.0788 0.0861 0.03 T 0.000 P -0.658 T 0.999 D 0.932 D Pathogenic 11_67432804_T->C 11 67432804 67432804 T C snp 5600.77 1/1 99 207 0 207 1.0 exonic rs2447571 ALDH3B2 AU nonsynonymous SNV NM_000695 exon7 c.A658G p.S220G 0.999002 0.997 0.999769 0.9992 0.9907 1 T 0.000 P -0.942 T 0.0 T 0.0 T Pathogenic 11_67432854_T->C 11 67432854 67432854 T C snp 4457.77 1/1 99 155 0 155 1.0 exonic rs6591270 ALDH3B2 AU nonsynonymous SNV NM_000695 exon7 c.A608G p.H203R 0.936102 1 0.935670 0.9819 0.9999 1 T 0.000 P -0.944 T 0.0 T 0.0 T Pathogenic 11_67433708_-->G 11 67433708 67433708 - G indel 2175.73 0/1 99 179 97 82 0.46 intronic rs397718341 ALDH3B2 AU NM_001031615 exon5 c.2989+34insG 0.861821 0.9058 0.846652 0.9030 0.9140 Uncertain 11_67433869_C->T 11 67433869 67433869 C T snp 1651.77 0/1 99 180 105 75 0.42 exonic rs1551888 ALDH3B2 AU nonsynonymous SNV NM_000695 exon5 c.G155A p.S52N 0.86861 0.9097 0.849784 0.9029 0.9098 1 T 0.000 P -0.950 T 0.0 T 0.0 T Pathogenic 11_67434416_C->A 11 67434416 67434416 C A snp 2406.77 0/1 99 190 80 110 0.58 UTR5 rs4646823 ALDH3B2 AU 0.805911 0.8819 0.787958 0.8830 0.8878 Uncertain 11_67563991_A->G 11 67563991 67563991 A G snp 45.74 1/1 6 2 0 2 1.0 ncRNA_intronic rs11227965 FAM86C2P AU 0.951877 1 Uncertain 11_67564004_A->C 11 67564004 67564004 A C snp 87.28 1/1 9 3 0 3 1.0 ncRNA_intronic rs10896234 FAM86C2P AU 0.999401 1 Uncertain 11_67564005_T->C 11 67564005 67564005 T C snp 87.28 1/1 9 3 0 3 1.0 ncRNA_intronic rs11227966 FAM86C2P AU 0.952276 1 Uncertain 11_67564034_A->G 11 67564034 67564034 A G snp 247.8 1/1 21 7 0 7 1.0 ncRNA_intronic rs11227967 FAM86C2P AU 0.96266 1 Uncertain 11_67564056_T->A 11 67564056 67564056 T A snp 424.77 1/1 33 12 0 12 1.0 ncRNA_intronic rs11227968 FAM86C2P AU 0.717252 0.8274 Uncertain 11_67564068_C->A 11 67564068 67564068 C A snp 511.77 1/1 39 14 0 14 1.0 ncRNA_intronic rs12285432 FAM86C2P AU 0.570088 0.7232 Uncertain 11_67564135_G->C 11 67564135 67564135 G C snp 1132.77 1/1 81 44 0 44 1.0 ncRNA_intronic rs7114001 FAM86C2P AU 0.777556 0.8313 0.7679 0.8397 Uncertain 11_67564197_T->C 11 67564197 67564197 T C snp 1617.77 1/1 99 57 0 57 1.0 ncRNA_exonic rs7129832 FAM86C2P AU 0.990615 1 0.9913 0.9993 Uncertain 11_67564238_C->T 11 67564238 67564238 C T snp 1343.77 1/1 96 48 0 48 1.0 ncRNA_exonic rs4244832 FAM86C2P AU 0.641973 0.7659 0.6756 0.7562 Uncertain 11_67564241_C->T 11 67564241 67564241 C T snp 1324.77 1/1 96 48 0 48 1.0 ncRNA_exonic rs6423769 FAM86C2P AU 0.642173 0.7669 0.6770 0.7558 Uncertain 11_67564345_C->T 11 67564345 67564345 C T snp 99.28 1/1 9 3 0 3 1.0 ncRNA_intronic rs4244833 FAM86C2P AU 0.932109 0.9931 0.9526 0.9912 Uncertain 11_67765056_T->C 11 67765056 67765056 T C snp 80.77 0/1 99 6 3 3 0.5 intronic rs308328 UNC93B1 AU NM_030930 exon5 c.6129-89T>C 0.536342 0.4306 Uncertain 11_67765163_-->G 11 67765163 67765163 - G indel 2424.73 1/1 99 58 0 58 1.0 exonic rs11428176 UNC93B1 AU unknown 1 1 0.999754 1 1 ID=COSM1356479;OCCURENCE=1(large_intestine) Uncertain 11_67786064_-->C 11 67786064 67786064 - C indel 2488.73 1/1 99 63 0 63 1.0 exonic rs11433668 ALDH3B1 AU unknown 1 1 0.999570 1 1 Uncertain 11_67786398_T->C 11 67786398 67786398 T C snp 998.77 0/1 99 94 57 37 0.39 intronic rs4244839 ALDH3B1 AU NM_001161473 exon4 c.3595+36T>C 0.239018 0.2073 0.248585 0.2280 0.2467 Uncertain 11_67786764_A->G 11 67786764 67786764 A G snp 1013.77 0/1 99 83 36 47 0.57 intronic rs1636207 ALDH3B1 AU NM_001161473 exon5 c.3957+40A>G 0.509784 0.4554 0.540047 0.4795 0.4724 Uncertain 11_67789138_C->T 11 67789138 67789138 C T snp 1130.77 0/1 99 70 31 39 0.56 exonic rs2286168 ALDH3B1 AU unknown 0.228435 0.2272 0.244379 0.2133 0.2093 Uncertain 11_67789293_-->C 11 67789293 67789293 - C indel 7321.73 1/1 99 175 0 175 1.0 exonic rs397695802 ALDH3B1 AU unknown 0.997204 0.9861 0.9992 0.9899 Uncertain 11_67790278_C->T 11 67790278 67790278 C T snp 698.77 0/1 99 60 31 29 0.48 intronic rs3764817 ALDH3B1 AU NM_001290059 exon7 c.1250+49C>T 0.26258 0.2252 0.285153 0.2228 0.2082 Uncertain 11_67790340_A->T 11 67790340 67790340 A T snp 177.77 0/1 99 15 7 8 0.53 intronic rs3764816 ALDH3B1 AU NM_001290059 exon7 c.1250+111A>T 0.236621 0.2282 Uncertain 11_67793448_A->G 11 67793448 67793448 A G snp 762.77 0/1 99 63 29 34 0.54 intronic rs2286164 ALDH3B1 AU NM_001290059 exon8 c.4497-28A>G 0.259784 0.2282 0.268167 0.3078 0.2957 Uncertain 11_67793509_C->T 11 67793509 67793509 C T snp 1500.77 0/1 99 123 56 67 0.54 exonic rs2286163 ALDH3B1 AU unknown 0.221246 0.2282 0.232929 0.2399 0.2310 Uncertain 11_67795378_-->C 11 67795378 67795378 - C indel 5683.73 1/1 99 151 0 151 1.0 exonic rs11436139 ALDH3B1 AU unknown 0.9998 1 0.999592 0.9999 1 Uncertain 11_67798356_-->GCCGGCCCTCAGGGC 11 67798356 67798356 - GCCGGCCCTCAGGGC indel 1693.73 0/1 99 38 27 11 0.29 intronic rs11276215 NDUFS8 AR,AO 0.145966 0.1518 Uncertain 11_67798363_T->C 11 67798363 67798363 T C snp 697.77 0/1 99 56 28 28 0.5 intronic rs4147777 NDUFS8 AR,AO 0.0062 0 Uncertain 11_67798567_G->A 11 67798567 67798567 G A snp 530.77 0/1 99 25 9 16 0.64 intronic rs1122731 NDUFS8 AR,AO 0.212061 0.2292 Uncertain 11_67799731_C->G 11 67799731 67799731 C G snp 2344.77 1/1 99 83 0 83 1.0 intronic rs3133266 NDUFS8 AR,AO NM_002496 exon3 c.134-21C>G 0.970248 1 0.974823 0.9927 1 Uncertain 11_67799926_T->C 11 67799926 67799926 T C snp 197.77 0/1 99 11 4 7 0.64 intronic rs2075626 NDUFS8 AR,AO NM_002496 exon3 c.185+123T>C 0.209864 0.2292 Uncertain 11_67800494_T->G 11 67800494 67800494 T G snp 4558.77 1/1 99 152 0 152 1.0 intronic rs3115545 NDUFS8 AR,AO NM_002496 exon4 c.861+15T>G 0.96865 1 0.974900 0.9923 1 Uncertain 11_67801282_C->T 11 67801282 67801282 C T snp 1074.77 1/1 81 32 0 32 1.0 intronic rs3133267 NDUFS8 AR,AO NM_002496 exon5 c.1132+532C>T 0.923123 1 Uncertain 11_67801517_G->T 11 67801517 67801517 G T snp 5065.77 1/1 99 179 1 178 0.99 intronic rs3115546 NDUFS8 AR,AO NM_002496 exon5 c.1132+767G>T 0.923722 1 Uncertain 11_67802907_A->C 11 67802907 67802907 A C snp 34.77 0/1 63 5 3 2 0.4 intronic rs1104739 NDUFS8 AR,AO NM_002496 exon6 c.4101-812A>C 0.415735 0.2341 Uncertain 11_67803215_G->A 11 67803215 67803215 G A snp 77.77 0/1 99 7 4 3 0.43 intronic rs2075627 NDUFS8 AR,AO NM_002496 exon6 c.4101-504G>A 0.406749 0.2331 0.3295 0.2656 Uncertain 11_67804074_C->T 11 67804074 67804074 C T snp 396.77 0/1 99 37 19 18 0.49 UTR3 rs1051806 NDUFS8 AR,AO 0.169928 0.1607 0.191976 0.1545 0.1369 Uncertain 11_67804156_C->T 11 67804156 67804156 C T snp 96.28 1/1 9 3 0 3 1.0 downstream rs3133269 NDUFS8 AR,AO 0.751398 0.8056 Uncertain 11_67808938_T->C 11 67808938 67808938 T C snp 138.77 0/1 99 16 10 6 0.38 intronic rs7116924 TCIRG1 AR NM_006019 exon2 c.117+83T>C 0.274361 0.2331 Uncertain 11_67810341_A->G 11 67810341 67810341 A G snp 285.77 0/1 99 42 28 14 0.33 intronic rs3808974 TCIRG1 AR NM_006019 exon4 c.1592+11A>G 0.297524 0.2361 0.283203 0.2566 0.2647 Uncertain 11_67811262_C->A 11 67811262 67811262 C A snp 1276.77 0/1 99 118 63 55 0.47 intronic rs10896289 TCIRG1 AR NM_006019 exon8 c.2542-18C>A 0.17512 0.1617 0.182866 0.1851 0.2169 Uncertain 11_67811605_G->A 11 67811605 67811605 G A snp 416.77 0/1 99 31 15 16 0.52 exonic rs769761112 TCIRG1 AR nonsynonymous SNV NM_006019 exon9 c.G814A p.G272R 0.0001 0 0.41 T 0.994 D -1.075 T 0.994 D 0.862 D Pathogenic 11_67814979_G->C 11 67814979 67814979 G C snp 7253.77 1/1 99 250 0 250 1.0 exonic rs2471829 TCIRG1 AR synonymous SNV NM_006019 exon11 c.G1245C p.L415L 0.969848 1 0.974977 0.9927 1 1.000 P -1.010 T Likely benign 11_67817876_C->T 11 67817876 67817876 C T snp 132.77 0/1 99 9 4 5 0.56 intronic rs11228127 TCIRG1 AR NM_006019 exon19 c.9215-77C>T 0.211462 0.3135 Uncertain 11_67833543_C->A 11 67833543 67833543 C A snp 140.77 0/1 99 14 9 5 0.36 intronic rs7928739 CHKA AU NM_212469 exon4 c.11907+182C>A 0.542532 0.6012 Uncertain 11_67837771_A->T 11 67837771 67837771 A T snp 410.77 0/1 99 42 19 23 0.55 intronic rs3819255 CHKA AU NM_212469 exon7 c.16306+11A>T 0.319888 0.3879 0.300370 0.3231 0.3466 Uncertain 11_67842369_C->T 11 67842369 67842369 C T snp 152.77 0/1 99 13 7 6 0.46 intronic rs2512611 CHKA AU NM_212469 exon9 c.20843+72C>T 0.599441 0.6012 Uncertain 11_67941390_-->A 11 67941390 67941390 - A indel 693.73 0/1 99 58 20 38 0.66 intronic rs3832715 SUV420H1 AU NM_016028 exon5 c.6940+10insA 0.501597 0.5794 0.413534 0.4947 0.6321 Uncertain 11_67957518_A->T 11 67957518 67957518 A T snp 6155.77 1/1 99 222 0 222 1.0 exonic rs2512606 SUV420H1 AU nonsynonymous SNV NM_017635 exon2 c.T26A p.I9N 1 1 1 1 1 T 0.002 P -0.934 T 0.0 T 0.0 T Pathogenic 11_68030015_C->T 11 68030015 68030015 C T snp 573.77 0/1 99 46 26 20 0.43 exonic rs901827 C11orf24 AU nonsynonymous SNV NM_022338 exon4 c.G448A p.A150T 0.350439 0.4127 0.404373 0.3891 0.3860 1 T 0.0 P -0.947 T 0.015 T 0.006 T Pathogenic 11_68030173_C->A 11 68030173 68030173 C A snp 2062.77 0/1 99 136 58 78 0.57 exonic rs3802746 C11orf24 AU nonsynonymous SNV NM_022338 exon4 c.G290T p.G97V 0.383387 0.4752 0.255852 0.3728 0.4964 0.33 T 0.0 P -0.923 T 0.995 D 0.919 D Pathogenic 11_68115764_C->T 11 68115764 68115764 C T snp 1169.77 0/1 99 71 32 39 0.55 intronic rs643981 LRP5 AR,AD NM_002335 exon2 c.35529+53C>T 0.404353 0.1171 Uncertain 11_68131167_A->T 11 68131167 68131167 A T snp 1948.77 1/1 99 54 0 54 1.0 intronic rs10791978 LRP5 AR,AD NM_002335 exon4 c.51032-47A>T 1 1 1.0000 1 Uncertain 11_68133035_T->C 11 68133035 68133035 T C snp 916.77 0/1 99 87 46 41 0.47 splicing rs314776 LRP5 AR,AD NM_002335 exon5 c.52856-3T>C 0.403155 0.1161 0.500154 0.3765 0.0967 Pathogenic 11_68154188_G->A 11 68154188 68154188 G A snp 1514.77 0/1 99 98 40 58 0.59 intronic rs4988319 LRP5 AR,AD NM_002335 exon6 c.73998+8G>A 0.115415 0.1012 0.151862 0.1370 0.1010 Uncertain 11_68170825_A->G 11 68170825 68170825 A G snp 503.77 1/1 39 13 0 13 1.0 intronic rs687482 LRP5 AR,AD NM_002335 exon8 c.90768-125A>G 0.998802 1 Uncertain 11_68170833_G->T 11 68170833 68170833 G T snp 746.77 1/1 57 22 0 22 1.0 intronic rs686921 LRP5 AR,AD NM_002335 exon8 c.90768-117G>T 0.692292 0.7897 Uncertain 11_68171013_T->C 11 68171013 68171013 T C snp 6783.77 1/1 99 250 0 250 1.0 exonic rs545382 LRP5 AR,AD synonymous SNV NM_002335 exon8 c.T1647C p.F549F 0.841454 0.9851 0.815368 0.9001 0.9884 Uncertain 11_68173861_C->T 11 68173861 68173861 C T snp 948.77 1/1 69 29 0 29 1.0 intronic rs471966 LRP5 AR,AD NM_002335 exon9 c.93809-130C>T 0.600839 0.7282 Uncertain 11_68177708_G->A 11 68177708 68177708 G A snp 93.28 1/1 9 3 0 3 1.0 intronic rs576118 LRP5 AR,AD NM_002335 exon10 c.97426+100G>A 0.702476 0.7887 Uncertain 11_68179166_A->G 11 68179166 68179166 A G snp 1832.77 1/1 99 64 0 64 1.0 intronic rs689179 LRP5 AR,AD NM_002335 exon11 c.98906+78A>G 0.702676 0.7887 Uncertain 11_68192690_G->A 11 68192690 68192690 G A snp 3937.77 1/1 99 154 1 153 0.99 exonic rs556442 LRP5 AR,AD synonymous SNV NM_002335 exon15 c.G3357A p.V1119V 0.579273 0.7232 0.526486 0.6755 0.7315 Uncertain 11_68305521_-->T 11 68305521 68305521 - T indel 1142.73 1/1 84 29 0 29 1.0 intronic rs11403965 PPP6R3 AU NM_001164164 exon4 c.227+162insT 0.655351 0.7798 Uncertain 11_68312645_A->G 11 68312645 68312645 A G snp 863.77 1/1 63 24 0 24 1.0 intronic rs10896340 PPP6R3 AU NM_001164164 exon5 c.7360+153A>G 0.65655 0.7798 Uncertain 11_68315798_C->A 11 68315798 68315798 C A snp 586.77 1/1 45 15 0 15 1.0 intronic rs10736668 PPP6R3 AU NM_001164164 exon6 c.10540+126C>A 0.998003 1 Uncertain 11_68331715_C->G 11 68331715 68331715 C G snp 1881.77 1/1 99 65 0 65 1.0 intronic rs10501398 PPP6R3 AU NM_001164164 exon10 c.26638-55C>G 0.605831 0.7758 Uncertain 11_68343622_A->T 11 68343622 68343622 A T snp 327.78 1/1 27 9 0 9 1.0 intronic rs116871771 PPP6R3 AU NM_001164164 exon14 c.38379+111A>T 0.0107827 0.0486 Uncertain 11_68456410_T->C 11 68456410 68456410 T C snp 7366.77 1/1 99 250 1 249 1.0 intronic rs3136540 GAL AD NM_015973 exon5 c.4003+16T>C 0.73762 0.8631 0.689560 0.7632 0.8456 Uncertain 11_68458470_T->C 11 68458470 68458470 T C snp 1577.77 0/1 99 135 69 66 0.49 UTR3 rs1042577 GAL AD 0.626997 0.7867 0.578380 0.6745 0.7777 Uncertain 11_68476011_A->G 11 68476011 68476011 A G snp 467.77 1/1 36 12 0 12 1.0 intronic rs4930597 MTL5 AU NM_004923 exon1 c.193+43A>G 0.715455 0.8611 0.657761 0.7439 0.854 Uncertain 11_68506450_-->G 11 68506450 68506450 - G indel 279.75 1/1 24 9 0 9 1.0 intronic rs34946510 MTL5 AU NM_004923 exon5 c.30481+194insG 0.9998 0.999 Uncertain 11_68529211_C->T 11 68529211 68529211 C T snp 526.77 0/1 99 30 12 18 0.6 intronic rs3763836 CPT1A AR NM_001876 exon4 c.4044+56C>T 0.00459265 0.0228 Uncertain 11_68529275_C->T 11 68529275 68529275 C T snp 77.77 0/1 69 5 2 3 0.6 intronic rs3763835 CPT1A AR NM_001876 exon4 c.4044+120C>T 0.00159744 0.0079 Uncertain 11_68530257_C->T 11 68530257 68530257 C T snp 1697.77 0/1 99 146 70 76 0.52 intronic rs2924699 CPT1A AR NM_001876 exon5 c.5118+28C>T 0.150359 0.0883 0.137358 0.0863 0.0851 Uncertain 11_68530318_C->A 11 68530318 68530318 C A snp 1034.77 0/1 99 81 38 43 0.53 intronic rs7112615 CPT1A AR NM_001876 exon5 c.5118+89C>A 0.889577 0.9077 Uncertain 11_68548260_C->A 11 68548260 68548260 C A snp 3602.77 1/1 99 136 0 136 1.0 intronic rs3019576 CPT1A AR NM_001876 exon8 c.23102+47C>A 0.892572 0.9058 0.911919 0.9313 0.9105 Uncertain 11_68549340_A->G 11 68549340 68549340 A G snp 6439.77 1/1 99 246 0 246 1.0 exonic rs2228502 CPT1A AR synonymous SNV NM_001876 exon11 c.T1251C p.F417F 0.892572 0.9058 0.911996 0.9313 0.9112 CLINSIG=non-pathogenic,non-pathogenic;CLNDBN=not_provided,not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter,criteria_provided\x2c_single_submitter;CLNACC=RCV000124600.1,RCV000153103.2;CLNDSDB=MedGen,MedGen;CLNDSDBID=CN221809,CN169374 Uncertain 11_68566648_-->C 11 68566648 68566648 - C indel 434.73 1/1 99 40 0 40 1.0 intronic rs111436340 CPT1A AR NM_001876 exon14 c.41574-37insC 0.563099 0.5992 0.0004 0.0074 ID=COSN229942;OCCURENCE=1(NS) Uncertain 11_68566649_A->G 11 68566649 68566649 A G snp 1173.77 1/1 87 39 0 39 1.0 intronic rs61887062 CPT1A AR NM_001876 exon14 c.41574-36A>G 0.563099 0.5992 0.0010 0 Uncertain 11_68566650_A->C 11 68566650 68566650 A C snp 1237.77 1/1 90 39 0 39 1.0 intronic rs61887063 CPT1A AR NM_001876 exon14 c.41574-35A>C 0.563099 0.5992 5.266e-05 0.0009 Uncertain 11_68566651_A->T 11 68566651 68566651 A T snp 1199.77 1/1 87 39 0 39 1.0 intronic rs61887064 CPT1A AR NM_001876 exon14 c.41574-34A>T 0.84345 0.8869 8.387e-06 0.0001 Uncertain 11_68566839_G->A 11 68566839 68566839 G A snp 1904.77 1/1 99 74 1 73 0.99 intronic rs3019603 CPT1A AR NM_001876 exon14 c.41712+16G>A 0.903554 0.8482 0.9375 0.8372 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter|criteria_provided\x2c_single_submitter;CLNACC=RCV000079917.3|RCV000124596.1;CLNDSDB=MedGen|MedGen;CLNDSDBID=CN169374|CN221809 Uncertain 11_68658686_C->A 11 68658686 68658686 C A snp 2249.77 0/1 99 177 83 94 0.53 downstream rs61887147 MRPL21 AU 0.148562 0.0833 Uncertain 11_68671477_T->C 11 68671477 68671477 T C snp 1807.77 0/1 99 190 112 78 0.41 exonic rs1249463 IGHMBP2 AR synonymous SNV NM_002180 exon1 c.T57C p.L19L 0.67512 0.4653 0.787609 0.7589 0.4412 Uncertain 11_68673914_A->G 11 68673914 68673914 A G snp 116.77 0/1 66 6 2 4 0.67 intronic rs148296162 IGHMBP2 AR NM_002180 exon2 c.2286+208A>G 0.00858626 0.0407 Uncertain 11_68678962_T->C 11 68678962 68678962 T C snp 891.77 0/1 99 82 40 42 0.51 exonic rs560096 IGHMBP2 AR nonsynonymous SNV NM_002180 exon5 c.T602C p.L201S 0.680511 0.4633 0.778565 0.7719 0.4958 0.89 T 0.0 P -0.988 T 0.0 T 0.001 T Pathogenic 11_68700701_G->C 11 68700701 68700701 G C snp 273.77 0/1 99 24 14 10 0.42 intronic rs645436 IGHMBP2 AR NM_002180 exon9 c.29346-65G>C 0.213059 0.2183 Uncertain 11_68703009_C->G 11 68703009 68703009 C G snp 304.77 0/1 99 21 10 11 0.52 intronic rs598255 IGHMBP2 AR NM_002180 exon12 c.31470+119C>G 0.670927 0.4623 Uncertain 11_68705674_C->A 11 68705674 68705674 C A snp 805.77 0/1 99 91 52 39 0.43 exonic rs17612126 IGHMBP2 AR nonsynonymous SNV NM_002180 exon14 c.C2636A p.T879K 0.197085 0.2212 0.210117 0.2498 0.2492 0.93 T 0.000 P -0.931 T 0.215 T 0.03 T ID=CM055288;DIS=Spinal muscular atrophy with respiratory distress 1;TAG=R;PUB=15797190 R Pathogenic 11_68705820_G->A 11 68705820 68705820 G A snp 102.77 0/1 99 16 11 5 0.31 exonic rs2275996 IGHMBP2 AR nonsynonymous SNV NM_002180 exon14 c.G2782A p.E928K 0.0235623 0.0655 0.001927 0.0203 0.0976 0 D 1 D -0.670 T 1.0 D 0.999 D Pathogenic 11_68705876_G->A 11 68705876 68705876 G A snp 88.78 0/1 24 5 1 4 0.8 intronic rs4378405 IGHMBP2 AR NM_002180 exon14 c.34402+54G>A 0.238419 0.2212 Uncertain 11_68747485_G->A 11 68747485 68747485 G A snp 34.77 0/1 63 11 8 3 0.27 downstream rs1939734 MRGPRD AU 0.124201 0.2738 0.072201 0.1119 0.2603 Uncertain 11_68748003_T->C 11 68748003 68748003 T C snp 7708.77 1/1 99 250 0 250 1.0 exonic rs34847539 MRGPRD AU synonymous SNV NM_198923 exon1 c.A453G p.T151T 0.629193 0.4871 0.686788 0.6080 0.4901 Uncertain 11_68816370_A->G 11 68816370 68816370 A G snp 971.77 0/1 99 81 36 45 0.56 UTR5 rs4930642 TPCN2 AU 0.808706 0.7599 Uncertain 11_68822739_T->C 11 68822739 68822739 T C snp 7613.77 1/1 99 247 0 247 1.0 exonic rs1470892 TPCN2 AU synonymous SNV NM_139075 exon4 c.T348C p.A116A 0.998802 1 0.997459 0.9994 1 Uncertain 11_68834968_T->C 11 68834968 68834968 T C snp 1225.77 0/1 99 115 58 57 0.5 splicing rs6591368 TPCN2 AU NM_139075 exon8 c.18505-2T>C 0.898363 0.8522 0.943486 0.9577 0.8629 Pathogenic 11_68839555_C->T 11 68839555 68839555 C T snp 540.77 0/1 99 37 18 19 0.51 intronic rs3750958 TPCN2 AU NM_139075 exon11 c.23026+64C>T 0.0764776 0.2292 Uncertain 11_68839923_C->T 11 68839923 68839923 C T snp 306.77 0/1 99 35 22 13 0.37 intronic rs3750961 TPCN2 AU NM_139075 exon12 c.23629-171C>T 0.076278 0.2282 Uncertain 11_68840071_C->T 11 68840071 68840071 C T snp 1369.77 0/1 99 114 53 61 0.54 intronic rs3750964 TPCN2 AU NM_139075 exon12 c.23629-23C>T 0.0782748 0.2302 0.005775 0.0458 0.2225 Uncertain 11_68846519_A->C 11 68846519 68846519 A C snp 1566.77 0/1 99 104 52 52 0.5 intronic rs7124310 TPCN2 AU NM_139075 exon16 c.30023+31A>C 0.906949 0.8502 0.943563 0.9623 0.8615 Uncertain 11_68852660_C->T 11 68852660 68852660 C T snp 2969.77 0/1 99 245 116 129 0.53 intronic rs2290420 TPCN2 AU NM_139075 exon20 c.36212-17C>T 0.0644968 0.1508 0.028565 0.0290 0.1391 Uncertain 11_68854544_G->C 11 68854544 68854544 G C snp 730.77 0/1 99 85 47 38 0.45 intronic rs76305483 TPCN2 AU NM_139075 exon24 c.38114-35G>C 0.038738 0.1111 0.006931 0.0196 0.1216 Uncertain 11_69462642_G->A 11 69462642 69462642 G A snp 586.77 1/1 45 16 0 16 1.0 intronic rs602652 CCND1 AD,AO NM_053056 exon4 c.6680-119G>A 0.497804 0.8075 Uncertain 11_69462910_G->A 11 69462910 69462910 G A snp 3193.69 0/1 99 233 103 130 0.56 exonic rs9344 CCND1 AD,AO synonymous SNV NM_053056 exon4 c.G723A p.P241P 0.413538 0.5714 0.386742 0.4551 0.5695 CLINSIG=other|other|other;CLNDBN=Colorectal_cancer\x2c_susceptibility_to|Multiple_myeloma\x2c_translocation_11\x2c14_type|VON_HIPPEL-LINDAU_SYNDROME\x2c_MODIFIER_OF;CLNREVSTAT=no_assertion_criteria_provided|no_assertion_criteria_provided|no_assertion_criteria_provided;CLNACC=RCV000014762.3|RCV000083293.3|RCV000087019.3;CLNDSDB=.|MedGen|.;CLNDSDBID=.|CN186214|. ID=CS004528;DIS=HNPCC, early onset, association with;TAG=DFP;PUB=10667569 DFP Uncertain 11_69466115_C->A 11 69466115 69466115 C A snp 267.8 1/1 21 8 0 8 1.0 UTR3 rs7177 CCND1 AD,AO 0.491014 0.8591 Uncertain 11_69482091_C->A 11 69482091 69482091 C A snp 141.03 1/1 12 4 0 4 1.0 UTR3 rs1789166 ORAOV1 AU 0.749201 0.8948 Uncertain 11_69588729_G->A 11 69588729 69588729 G A snp 1619.77 0/1 99 167 93 74 0.44 intronic rs2073464 FGF4 AU NM_002007 exon2 c.715-62G>A 0.683706 0.6915 Uncertain 11_69589959_A->G 11 69589959 69589959 A G snp 146.03 1/1 12 6 0 6 1.0 UTR5 rs9666584 FGF4 AU 0.604433 0.751 Uncertain 11_69924226_C->T 11 69924226 69924226 C T snp 141.03 1/1 12 4 0 4 1.0 upstream rs2509134 ANO1 AU 0.840655 0.9702 Uncertain 11_69924352_C->G 11 69924352 69924352 C G snp 298.77 0/1 99 39 24 15 0.38 upstream rs11233117 ANO1 AU 0.447684 0.6597 Uncertain 11_69924476_T->G 11 69924476 69924476 T G snp 269.77 0/1 99 22 11 11 0.5 UTR5 rs11233122 ANO1 AU Uncertain 11_69931876_C->G 11 69931876 69931876 C G snp 170.9 1/1 15 5 0 5 1.0 intronic rs2509128 ANO1 AU NM_018043 exon2 c.9145-1981C>G 0.865216 0.7718 Uncertain 11_69933717_T->C 11 69933717 69933717 T C snp 38.77 0/1 67 6 3 3 0.5 intronic rs2509133 ANO1 AU NM_018043 exon2 c.9145-140T>C 0.477037 0.2817 Uncertain 11_69949136_CC->- 11 69949136 69949137 CC - indel 2242.73 1/1 99 49 0 49 1.0 intronic rs55698329 ANO1 AU NM_018043 exon3 c.24459-35_24459-34delCC 0.682109 0.5258 0.737191 0.7510 0.5811 Uncertain 11_69949327_C->T 11 69949327 69949327 C T snp 337.77 0/1 99 41 28 13 0.32 intronic rs2509147 ANO1 AU NM_018043 exon3 c.24558+57C>T 0.314896 0.3373 Uncertain 11_69949370_-->A 11 69949370 69949370 - A indel 103.73 0/1 61 12 3 9 0.75 intronic rs113704420 ANO1 AU NM_018043 exon3 c.24558+100insA 0.253195 0.1885 Uncertain 11_69951994_G->T 11 69951994 69951994 G T snp 473.77 0/1 99 39 19 20 0.51 intronic rs61034641 ANO1 AU NM_018043 exon5 c.27182+100G>T 0.135383 0.1587 Uncertain 11_69954412_A->G 11 69954412 69954412 A G snp 3605.77 1/1 99 125 0 125 1.0 intronic rs2509182 ANO1 AU NM_018043 exon6 c.29746-46A>G 0.952875 1 0.956698 0.9878 1 Uncertain 11_69957940_C->A 11 69957940 69957940 C A snp 1835.77 1/1 99 65 1 64 0.98 intronic rs2515251 ANO1 AU NM_018043 exon7 c.33156+72C>A 0.967452 1 0.972624 Uncertain 11_69962642_A->G 11 69962642 69962642 A G snp 447.77 0/1 99 37 20 17 0.46 intronic rs2515245 ANO1 AU NM_018043 exon8 c.37893+37A>G 0.830871 0.8522 0.860385 0.8523 0.8695 Uncertain 11_69970412_G->A 11 69970412 69970412 G A snp 1640.77 0/1 99 171 96 75 0.44 intronic rs2509160 ANO1 AU NM_018043 exon9 c.45743-43G>A 0.67512 0.7192 0.681977 0.7086 0.7364 Uncertain 11_69970637_A->G 11 69970637 69970637 A G snp 1133.77 1/1 84 35 0 35 1.0 intronic rs2515258 ANO1 AU NM_018043 exon9 c.45808+117A>G 0.912141 0.9554 Uncertain 11_70007865_A->C 11 70007865 70007865 A C snp 2194.77 1/1 99 76 0 76 1.0 intronic rs2155461 ANO1 AU NM_018043 exon18 c.83127+26A>C 0.972644 1 0.978019 0.9884 1 Uncertain 11_70013186_G->T 11 70013186 70013186 G T snp 255.77 0/1 99 21 13 8 0.38 intronic rs3781654 ANO1 AU NM_018043 exon21 c.88635-161G>T 0.287939 0.4861 Uncertain 11_70016247_-->G 11 70016247 70016247 - G indel 830.73 0/1 99 58 26 32 0.55 intronic rs35843284 ANO1 AU NM_018043 exon22 c.92280-745insG 0.764776 0.8393 0.763704 0.7542 0.8168 Uncertain 11_70016922_C->T 11 70016922 70016922 C T snp 1928.77 0/1 99 113 46 67 0.59 intronic rs7127005 ANO1 AU NM_018043 exon22 c.92280-70C>T 0.281949 0.5208 Uncertain 11_70016945_T->- 11 70016945 70016945 T - indel 3351.73 0/1 99 156 71 85 0.54 intronic rs3842255 ANO1 AU NM_018043 exon22 c.92280-47delT 0.279952 0.5198 0.291729 0.3518 0.5045 Uncertain 11_70031909_C->T 11 70031909 70031909 C T snp 204.77 0/1 99 25 16 9 0.36 intronic rs7937532 ANO1 AU NM_018043 exon25 c.107089+108C>T 0.312101 0.5179 Uncertain 11_70049523_A->G 11 70049523 70049523 A G snp 650.77 0/1 99 66 38 28 0.42 UTR5 rs1131677 FADD AR 0.532748 0.6369 0.613589 0.5124 0.6153 Uncertain 11_70200594_C->T 11 70200594 70200594 C T snp 1703.77 1/1 99 48 0 48 1.0 intronic rs7943389 PPFIA1 AU NM_177423 exon17 c.82280+36C>T 0.936901 1 0.877098 0.8736 0.9996 Uncertain 11_70208350_G->A 11 70208350 70208350 G A snp 5841.77 1/1 99 207 1 206 1.0 intronic rs10751231 PPFIA1 AU NM_177423 exon21 c.90115-43G>A 0.9998 1 0.999153 0.9995 1 Uncertain 11_70253389_C->T 11 70253389 70253389 C T snp 43.77 0/1 66 4 2 2 0.5 intronic rs2298396 CTTN AU 0.158746 0.1071 0.168800 0.1821 0.1284 Uncertain 11_70253475_C->T 11 70253475 70253475 C T snp 278.77 0/1 99 43 29 14 0.33 exonic rs2298397 CTTN AU synonymous SNV NM_001184740 exon3 c.C72T p.T24T 0.140974 0.1062 0.170983 0.2818 0.2227 1.000 P -1.057 T Likely benign 11_70253586_T->C 11 70253586 70253586 T C snp 795.77 0/1 99 92 54 38 0.41 intronic rs569732 CTTN AU NM_001184740 exon4 c.220-37T>C 0.485823 0.1181 0.548121 0.4417 0.1353 Uncertain 11_70260609_T->C 11 70260609 70260609 T C snp 1465.77 0/1 99 114 55 59 0.52 intronic rs7932550 CTTN AU NM_001184740 exon6 c.7244-38T>C 0.179712 0.1498 0.213582 0.2311 0.1835 Uncertain 11_70268910_C->T 11 70268910 70268910 C T snp 99.77 0/1 99 15 10 5 0.33 intronic rs12802851 CTTN AU NM_001184740 exon11 c.15642-135C>T 0.140575 0.1062 Uncertain 11_70279927_G->A 11 70279927 70279927 G A snp 113.77 0/1 99 9 5 4 0.44 intronic rs17160866 CTTN AU NM_001184740 exon16 c.26421+103G>A 0.254393 0.1062 Uncertain 11_70281007_T->C 11 70281007 70281007 T C snp 617.77 0/1 99 43 23 20 0.47 intronic rs7131282 CTTN AU NM_001184740 exon17 c.27728-124T>C 0.258786 0.1062 Uncertain 11_70282629_A->C 11 70282629 70282629 A C snp 794.77 0/1 99 53 21 32 0.6 UTR3 rs6894 CTTN AU 0.136182 0.1062 Uncertain 11_70331937_G->A 11 70331937 70331937 G A snp 963.77 0/1 99 94 51 43 0.46 exonic rs143595073 SHANK2 AU unknown 0.0179712 0.004 0.011472 0.0223 0.0046 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000118342.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 11_70343356_G->A 11 70343356 70343356 G A snp 141.03 1/1 12 4 0 4 1.0 intronic SHANK2 AU NM_133266 exon6 c.27701-3318G>A 0.967252 1 Uncertain 11_70348009_A->G 11 70348009 70348009 A G snp 552.77 0/1 99 47 25 22 0.47 intronic rs7928538 SHANK2 AU NM_133266 exon8 c.29337-301A>G 0.0367412 0.003 0.019988 0.0527 0.0117 Uncertain 11_70349061_A->G 11 70349061 70349061 A G snp 1842.77 1/1 99 69 0 69 1.0 intronic SHANK2 AU NM_133266 exon9 c.30063+25A>G 0.967652 1 0.967200 0.9912 1 Uncertain 11_70506206_G->T 11 70506206 70506206 G T snp 41.77 0/1 70 7 4 3 0.43 intronic SHANK2 AU NM_133266 exon10 c.187084+149G>T 0.319888 0.3095 Uncertain 11_70507606_ACACACACACACACACACACACACACACACAC->- 11 70507606 70507637 ACACACACACACACACACACACACACACACAC - indel 4893.73 0/1 99 20 5 15 0.75 intronic rs10522920 SHANK2 AU NM_133266 exon11 c.188727-94_188727-63delACACACACACACACACACACACACACACACAC Uncertain 11_70544599_A->G 11 70544599 70544599 A G snp 130.03 1/1 12 4 0 4 1.0 intronic SHANK2 AU NM_012309 exon12 c.225819-193A>G 0.477835 0.2927 Uncertain 11_70544693_G->C 11 70544693 70544693 G C snp 316.77 0/1 99 37 23 14 0.38 intronic SHANK2 AU NM_012309 exon12 c.225819-99G>C Uncertain 11_70544937_A->G 11 70544937 70544937 A G snp 652.77 0/1 99 37 13 24 0.65 intronic SHANK2 AU NM_012309 exon12 c.225895+69A>G 0.296925 0.2927 Uncertain 11_70666765_C->T 11 70666765 70666765 C T snp 1745.77 0/1 99 129 53 76 0.59 exonic SHANK2 AU unknown 0.0930511 0.0734 0.1511 0.1140 Uncertain 11_70672399_G->A 11 70672399 70672399 G A snp 474.77 1/1 36 13 0 13 1.0 intronic SHANK2 AU NM_012309 exon15 c.347814+5612G>A 0.968251 1 Uncertain 11_70757705_C->T 11 70757705 70757705 C T snp 3628.77 1/1 99 135 0 135 1.0 intronic rs4246962 SHANK2 AU NM_012309 exon16 c.423702+15030C>T 0.908546 0.8968 Uncertain 11_70766554_C->T 11 70766554 70766554 C T snp 1422.77 1/1 99 53 0 53 1.0 intronic SHANK2 AU NM_012309 exon16 c.423702+23879C>T 0.571086 0.7173 Uncertain 11_70766664_A->G 11 70766664 70766664 A G snp 553.77 1/1 42 19 0 19 1.0 intronic SHANK2 AU NM_012309 exon16 c.423702+23989A>G 0.963458 1 Uncertain 11_70789000_G->A 11 70789000 70789000 G A snp 1478.77 0/1 99 139 76 63 0.45 intronic SHANK2 AU NM_012309 exon17 c.484493-14466G>A 0.211661 0.3095 Uncertain 11_70790852_G->C 11 70790852 70790852 G C snp 3371.77 0/1 99 249 120 129 0.52 intronic rs12802375 SHANK2 AU NM_012309 exon17 c.484493-12614G>C 0.0860623 0.12 Uncertain 11_70798896_G->- 11 70798896 70798896 G - indel 2053.73 0/1 99 121 52 69 0.57 intronic rs35132270 SHANK2 AU NM_012309 exon17 c.484493-4570delG 0.205072 0.2808 0.3301 0.2970 Uncertain 11_70798902_G->T 11 70798902 70798902 G T snp 1509.77 0/1 99 128 57 71 0.55 intronic rs34650500 SHANK2 AU NM_012309 exon17 c.484493-4564G>T 0.204273 0.2758 0.3155 0.2887 0 D 1 N -1.008 T Uncertain 11_70801075_G->C 11 70801075 70801075 G C snp 579.77 0/1 99 33 15 18 0.55 intronic rs4627107 SHANK2 AU NM_012309 exon17 c.484493-2391G>C 0.32508 0.3482 Uncertain 11_70829858_T->C 11 70829858 70829858 T C snp 3829.77 1/1 99 131 0 131 1.0 intronic SHANK2 AU NM_012309 exon21 c.510901-16T>C 0.519369 0.6161 0.477223 0.5260 0.6565 Uncertain 11_71140156_C->T 11 71140156 71140156 C T snp 77.77 0/1 63 6 2 4 0.67 intergenic rs1792275 FLJ42102 AU 0.747604 0.7698 Uncertain 11_71146577_G->A 11 71146577 71146577 G A snp 2363.77 0/1 99 172 75 97 0.56 exonic rs909217 DHCR7 AR synonymous SNV NM_001360 exon9 c.C1272T p.G424G 0.381989 0.3839 0.602529 0.5499 0.3933 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000079641.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 11_71146691_A->G 11 71146691 71146691 A G snp 2864.77 0/1 99 228 110 118 0.52 exonic rs760241 DHCR7 AR synonymous SNV NM_001360 exon9 c.T1158C p.D386D 0.75639 0.7688 0.871189 0.8531 0.7847 0.05 T 1.000 P -0.882 T CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000079639.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Likely benign 11_71146952_G->A 11 71146952 71146952 G A snp 1743.77 0/1 99 128 54 74 0.58 intronic rs1792268 DHCR7 AR NM_001360 exon1 c.465+67G>A 0.736821 0.7688 0.8454 0.8298 0 D 0.0 P -0.970 T Uncertain 11_71149069_A->G 11 71149069 71149069 A G snp 616.77 0/1 99 56 31 25 0.45 intronic rs949176 DHCR7 AR NM_001360 exon2 c.2569+80A>G 0.772364 0.8294 Uncertain 11_71149137_G->A 11 71149137 71149137 G A snp 158.78 0/1 24 6 1 5 0.83 intronic rs1790326 DHCR7 AR NM_001360 exon2 c.2569+148G>A 0.754992 0.7679 Uncertain 11_71149856_C->T 11 71149856 71149856 C T snp 260.77 0/1 99 18 7 11 0.61 intronic rs1792265 DHCR7 AR NM_001360 exon3 c.3504-68C>T 0.736621 0.7679 Uncertain 11_71150217_C->T 11 71150217 71150217 C T snp 307.77 0/1 99 23 10 13 0.57 intronic rs2852853 DHCR7 AR NM_001360 exon3 c.3709+88C>T 0.381789 0.3909 Uncertain 11_71152461_A->G 11 71152461 71152461 A G snp 1052.77 0/1 99 85 43 42 0.49 exonic rs949177 DHCR7 AR synonymous SNV NM_001360 exon6 c.T438C p.N146N 0.807308 0.8274 0.909994 0.8747 0.8501 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000079654.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 11_71153459_C->A 11 71153459 71153459 C A snp 2603.77 0/1 99 194 84 110 0.57 intronic rs11603330 DHCR7 AR NM_001360 exon5 c.6979+60C>A 0.349042 0.3581 Uncertain 11_71155153_A->G 11 71155153 71155153 A G snp 2872.77 0/1 99 250 130 120 0.48 exonic rs1790334 DHCR7 AR synonymous SNV NM_001360 exon4 c.T207C p.T69T 0.810104 0.8274 0.912920 0.8755 0.8511 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000079649.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 11_71155171_C->T 11 71155171 71155171 C T snp 2897.77 0/1 99 250 125 125 0.5 exonic rs1044482 DHCR7 AR synonymous SNV NM_001360 exon4 c.G189A p.Q63Q 0.400958 0.3591 0.626906 0.5718 0.3899 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000079647.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 11_71164471_G->A 11 71164471 71164471 G A snp 1249.77 0/1 99 115 54 61 0.53 intronic rs12789751 NADSYN1 AU NM_018161 exon1 c.85+44G>A 0.351837 0.3819 0.581417 0.5561 0.4175 Uncertain 11_71164544_A->C 11 71164544 71164544 A C snp 551.77 0/1 99 38 16 22 0.58 intronic rs12791871 NADSYN1 AU NM_018161 exon1 c.85+117A>C 0.354233 0.381 Uncertain 11_71166060_-->G 11 71166060 71166060 - G indel 1555.73 0/1 99 57 17 40 0.7 intronic rs2276359 NADSYN1 AU NM_018161 exon2 c.1813-95insG 0.433307 0.381 Uncertain 11_71169547_G->C 11 71169547 71169547 G C snp 1606.77 0/1 99 138 70 68 0.49 exonic rs2276360 NADSYN1 AU nonsynonymous SNV NM_018161 exon3 c.G220C p.V74L 0.403954 0.381 0.636511 0.5599 0.3915 1 T 1.000 P -0.992 T 0.0 T 0.001 T Pathogenic 11_71169648_A->G 11 71169648 71169648 A G snp 550.77 0/1 99 39 21 18 0.46 intronic rs2276361 NADSYN1 AU NM_018161 exon3 c.5248+58A>G 0.405551 0.381 Uncertain 11_71174452_A->G 11 71174452 71174452 A G snp 1628.77 0/1 99 148 80 68 0.46 intronic rs2276362 NADSYN1 AU NM_018161 exon4 c.10135-25A>G 0.394169 0.38 0.625577 0.5562 0.3875 Uncertain 11_71174589_T->C 11 71174589 71174589 T C snp 2076.77 1/1 99 75 0 75 1.0 intronic rs1629304 NADSYN1 AU NM_018161 exon4 c.10189+58T>C 0.991813 0.9841 0.996934 Uncertain 11_71183474_C->T 11 71183474 71183474 C T snp 831.77 0/1 99 76 38 38 0.5 intronic rs2282621 NADSYN1 AU NM_018161 exon6 c.19152-20C>T 0.386981 0.4395 0.604250 0.5547 0.4479 Uncertain 11_71183477_C->T 11 71183477 71183477 C T snp 834.77 0/1 99 75 36 39 0.52 intronic rs2282620 NADSYN1 AU NM_018161 exon6 c.19152-17C>T 0.386981 0.4395 0.604327 0.5547 0.4479 Uncertain 11_71184190_C->A 11 71184190 71184190 C A snp 1428.77 0/1 99 97 44 53 0.55 intronic rs7935125 NADSYN1 AU NM_018161 exon7 c.19981-133C>A 0.346446 0.38 Uncertain 11_71184678_A->C 11 71184678 71184678 A C snp 3938.77 1/1 99 149 0 149 1.0 exonic rs7950441 NADSYN1 AU nonsynonymous SNV NM_018161 exon8 c.A612C p.Q204H 1 1 1.0000 1 1 T 1.000 P -0.944 T 0.0 T 0.0 T Pathogenic 11_71185479_T->C 11 71185479 71185479 T C snp 2727.77 0/1 99 249 139 110 0.44 exonic rs2276354 NADSYN1 AU synonymous SNV NM_018161 exon9 c.T705C p.C235C 0.801917 0.8274 0.909763 0.8662 0.8484 Uncertain 11_71185518_T->C 11 71185518 71185518 T C snp 2903.77 0/1 99 249 141 108 0.43 exonic rs2186778 NADSYN1 AU synonymous SNV NM_018161 exon9 c.T744C p.I248I 0.749601 0.8284 0.855713 0.8511 0.8484 Uncertain 11_71187294_G->T 11 71187294 71187294 G T snp 149.77 0/1 99 13 7 6 0.46 intronic rs4944062 NADSYN1 AU NM_018161 exon9 c.21230+1722G>T 0.398163 0.38 Uncertain 11_71188502_G->A 11 71188502 71188502 G A snp 1710.77 0/1 99 129 63 66 0.51 intronic rs3794065 NADSYN1 AU NM_018161 exon10 c.25098-938G>A 0.798522 0.8274 0.7671 0.8119 Uncertain 11_71189436_T->C 11 71189436 71189436 T C snp 1460.77 0/1 99 119 57 62 0.52 splicing rs2276353 NADSYN1 AU NM_018161 exon10 c.25098-4T>C 0.801717 0.8284 0.910772 0.8820 0.8650 Pathogenic 11_71192602_T->C 11 71192602 71192602 T C snp 380.77 0/1 99 22 6 16 0.73 intronic rs3814731 NADSYN1 AU NM_018161 exon12 c.28108+152T>C 0.801118 0.8284 Uncertain 11_71192851_A->G 11 71192851 71192851 A G snp 1047.77 0/1 99 99 54 45 0.45 intronic rs3814734 NADSYN1 AU NM_018161 exon13 c.28626-117A>G 0.801717 0.8284 Uncertain 11_71193219_A->G 11 71193219 71193219 A G snp 152.77 0/1 99 10 5 5 0.5 intronic rs6592154 NADSYN1 AU NM_018161 exon13 c.28729+148A>G 0.801717 0.8284 Uncertain 11_71260243_T->C 11 71260243 71260243 T C snp 6127.77 1/1 99 220 0 220 1.0 UTR3 rs2664 KRTAP5-9 AU 0.526158 0.623 0.499538 0.4885 0.6448 Uncertain 11_71260296_G->A 11 71260296 71260296 G A snp 3051.77 1/1 99 106 0 106 1.0 UTR3 rs2663 KRTAP5-9 AU 0.34405 0.4901 Uncertain 11_71276909_G->A 11 71276909 71276909 G A snp 183.74 0/1 6 7 1 6 0.86 exonic rs12289712 KRTAP5-10 AU synonymous SNV NM_001012710 exon1 c.G276A p.G92G Uncertain 11_71279600_A->T 11 71279600 71279600 A T snp 52.74 1/1 6 2 0 2 1.0 intergenic rs7950210 KRTAP5-10 AU 0.480631 0.4157 Uncertain 11_71279936_A->C 11 71279936 71279936 A C snp 1260.77 0/1 99 162 91 71 0.44 intergenic rs72475645 KRTAP5-10 AU 0.4264 0.4363 0.78 T 1.000 P -0.975 T Uncertain 11_71279995_C->T 11 71279995 71279995 C T snp 1034.77 0/1 99 165 103 62 0.38 intergenic rs200834593 KRTAP5-10 AU 0.4062 0.4375 Uncertain 11_71280000_T->G 11 71280000 71280000 T G snp 1032.77 0/1 99 163 102 61 0.37 intergenic rs768174246 KRTAP5-10 AU 0.4082 0.4409 Uncertain 11_71280070_G->C 11 71280070 71280070 G C snp 203.77 0/1 99 63 52 11 0.17 intergenic rs530275474 KRTAP5-10 AU Uncertain 11_71290580_G->A 11 71290580 71290580 G A snp 249.8 1/1 21 7 0 7 1.0 intergenic rs11602969 KRTAP5-10 AU 0.413139 0.5754 Uncertain 11_71290670_C->G 11 71290670 71290670 C G snp 1201.77 1/1 87 42 0 42 1.0 intergenic rs2015464 KRTAP5-10 AU 0.628994 0.6458 Uncertain 11_71290740_A->C 11 71290740 71290740 A C snp 1348.77 1/1 96 56 0 56 1.0 intergenic rs4081429 KRTAP5-10 AU 0.615415 0.6478 0.5959 0.6328 Uncertain 11_71290816_G->A 11 71290816 71290816 G A snp 275.77 0/1 99 50 27 23 0.46 intergenic rs201079590 KRTAP5-10 AU 0.0652 0.0496 0.1 T -0.669 T Uncertain 11_71290818_T->C 11 71290818 71290818 T C snp 191.77 0/1 99 46 26 20 0.43 intergenic rs201880005 KRTAP5-10 AU 0.0643 0.0494 1 T -0.972 T Uncertain 11_71668363_T->- 11 71668363 71668363 T - indel 4264.73 1/1 99 108 0 108 1.0 intronic rs3216157 RNF121 AU NM_018320 exon2 c.28203+53delT 0.876797 0.8651 0.932428 0.9344 0.8448 Uncertain 11_71701523_G->A 11 71701523 71701523 G A snp 640.77 1/1 48 20 0 20 1.0 intronic rs2276384 RNF121 AU NM_018320 exon6 c.61535-119G>A 0.879992 0.8651 Uncertain 11_71707465_T->C 11 71707465 71707465 T C snp 227.84 1/1 18 8 0 8 1.0 UTR3 rs1055452 RNF121 AU 0.877196 0.8651 Uncertain 11_71707489_T->C 11 71707489 71707489 T C snp 169.9 1/1 15 6 0 6 1.0 UTR3 rs3829215 RNF121 AU 0.897364 0.8651 Uncertain 11_71712175_G->A 11 71712175 71712175 G A snp 2489.77 1/1 99 81 0 81 1.0 intronic rs1892919 IL18BP AU NM_005699 exon3 c.1216-71G>A 0.795128 0.7778 Uncertain 11_71714526_G->C 11 71714526 71714526 G C snp 5670.77 1/1 99 191 0 191 1.0 UTR3 rs949324 NUMA1 AU 0.871206 0.8611 0.860696 0.9296 0.8390 Uncertain 11_71714528_T->G 11 71714528 71714528 T G snp 5876.77 1/1 99 200 0 200 1.0 UTR3 rs949323 NUMA1 AU 0.871006 0.8601 0.852148 0.9297 0.8388 Uncertain 11_71715215_C->G 11 71715215 71715215 C G snp 5219.77 1/1 99 181 0 181 1.0 intronic rs2845857 NUMA1 AU NM_006185 exon3 c.698-55C>G 0.802716 0.7738 Uncertain 11_71715218_T->C 11 71715218 71715218 T C snp 5184.77 1/1 99 178 0 178 1.0 intronic rs2852365 NUMA1 AU NM_006185 exon3 c.698-52T>C 0.879792 0.8661 Uncertain 11_71719619_G->T 11 71719619 71719619 G T snp 853.77 1/1 63 26 0 26 1.0 intronic rs2155145 NUMA1 AU NM_006185 exon8 c.5161-114G>T 0.899361 0.8641 0.9413 0.8378 Uncertain 11_71726785_A->G 11 71726785 71726785 A G snp 2927.77 0/1 99 218 95 123 0.56 exonic rs17161802 NUMA1 AU synonymous SNV NM_006185 exon15 c.T1764C p.A588A 0.0269569 0.0248 0.001155 0.0275 0.0342 Uncertain 11_71727422_A->C 11 71727422 71727422 A C snp 743.77 1/1 57 21 0 21 1.0 ncRNA_exonic rs1057992 LOC100128494 AU 0.899361 0.8641 0.958186 0.9410 0.8445 Uncertain 11_71728543_-->A 11 71728543 71728543 - A indel 699.94 1/1 13 33 3 30 0.91 ncRNA_exonic rs34393610 LOC100128494 AU 0.591054 0.5615 Uncertain 11_71728909_GTCAAC->- 11 71728909 71728914 GTCAAC - indel 1198.73 1/1 42 21 0 21 1.0 ncRNA_exonic rs11278712 LOC100128494 AU 0.826677 0.7758 0.8921 0.7538 Uncertain 11_71729656_A->G 11 71729656 71729656 A G snp 356.53 0/1 3 12 1 11 0.92 ncRNA_intronic rs949325 LOC100128494 AU 0.826677 0.7758 Uncertain 11_71730715_T->A 11 71730715 71730715 T A snp 1049.77 1/1 75 39 0 39 1.0 ncRNA_intronic rs2298456 LOC100128494 AU 0.826677 0.7758 0.895765 0.8965 0.7681 Uncertain 11_71733519_C->T 11 71733519 71733519 C T snp 1298.77 1/1 93 46 0 46 1.0 intronic rs10128658 NUMA1 AU NM_006185 exon21 c.18893+54C>T 0.826877 0.7758 0.905826 Uncertain 11_71734211_T->C 11 71734211 71734211 T C snp 2903.77 1/1 99 103 0 103 1.0 intronic rs2298457 NUMA1 AU NM_006185 exon22 c.19621+18T>C 0.826877 0.7758 0.903511 0.8961 0.7673 Uncertain 11_71740378_-->AC 11 71740378 71740378 - AC indel 5676.73 1/1 99 122 0 122 1.0 intronic rs10664166 NUMA1 AU NM_006185 exon24 c.25764+42insAC 0.802716 0.7758 0.876438 0.8889 0.7693 Uncertain 11_71740521_A->T 11 71740521 71740521 A T snp 601.77 1/1 45 18 0 18 1.0 intronic rs1939247 NUMA1 AU NM_006185 exon24 c.25764+185A>T 0.826877 0.7758 Uncertain 11_71797422_T->A 11 71797422 71797422 T A snp 6661.77 1/1 99 230 0 230 1.0 intronic rs597513 LRTOMT AR 0.740216 0.7778 0.8641 0.7652 Uncertain 11_71849741_C->T 11 71849741 71849741 C T snp 477.77 1/1 36 15 0 15 1.0 intronic rs652197 FOLR3 AU NM_000804 exon3 c.3008-265C>T 0.736022 0.873 Uncertain 11_71883540_G->A 11 71883540 71883540 G A snp 2322.77 1/1 99 90 0 90 1.0 intergenic rs633738 FOLR3 AU 0.916134 0.8581 Uncertain 11_71906221_T->G 11 71906221 71906221 T G snp 255.77 0/1 99 20 9 11 0.55 intronic rs74702497 FOLR1 AR NM_000802 exon3 c.3097-93T>G 0.0157748 0.0387 Uncertain 11_71929526_T->A 11 71929526 71929526 T A snp 176.9 1/1 15 6 0 6 1.0 intronic rs651646 FOLR2 AU 0.54393 0.4683 Uncertain 11_71932120_G->C 11 71932120 71932120 G C snp 3135.77 1/1 99 80 0 80 1.0 intronic rs2508202 FOLR2 AU NM_001113536 exon3 c.2474+18G>C 0.9998 1 0.9961 0.9983 Uncertain 11_71932414_T->C 11 71932414 71932414 T C snp 2472.77 1/1 99 80 0 80 1.0 intronic rs2298444 FOLR2 AU NM_001113536 exon4 c.2727+59T>C 0.351637 0.375 Uncertain 11_71941212_A->G 11 71941212 71941212 A G snp 4451.77 1/1 99 155 0 155 1.0 exonic rs2276048 INPPL1 AR synonymous SNV NM_001567 exon9 c.A987G p.S329S 0.36222 0.3403 0.280302 0.2502 0.3259 Uncertain 11_71941381_A->G 11 71941381 71941381 A G snp 2940.77 1/1 99 108 0 108 1.0 intronic rs2276047 INPPL1 AR NM_001567 exon10 c.5377-24A>G 0.420927 0.4226 0.331742 0.2867 0.4011 Uncertain 11_71941812_C->T 11 71941812 71941812 C T snp 2241.77 1/1 99 74 0 74 1.0 intronic rs12361913 INPPL1 AR NM_001567 exon11 c.5811-27C>T 0.342652 0.3234 0.262330 0.2348 0.3249 Uncertain 11_71942104_C->T 11 71942104 71942104 C T snp 2626.77 0/1 99 224 110 114 0.51 exonic rs17162091 INPPL1 AR synonymous SNV NM_001567 exon12 c.C1368T p.D456D 0.0241613 0.0615 0.014785 0.0240 0.0742 Uncertain 11_71942260_C->A 11 71942260 71942260 C A snp 805.77 0/1 99 66 31 35 0.53 intronic rs17847219 INPPL1 AR NM_001567 exon12 c.6205+27C>A 0.0241613 0.0615 0.013968 0.0250 0.0754 Uncertain 11_71943960_C->A 11 71943960 71943960 C A snp 3379.77 0/1 99 246 117 129 0.52 exonic rs61749194 INPPL1 AR synonymous SNV NM_001567 exon16 c.C1893A p.L631L 0.024361 0.0625 0.014785 0.0238 0.0739 Uncertain 11_71943961_C->A 11 71943961 71943961 C A snp 3439.77 0/1 99 246 116 130 0.53 exonic rs61749195 INPPL1 AR nonsynonymous SNV NM_001567 exon16 c.C1894A p.L632I 0.024361 0.0625 0.014785 0.0238 0.0739 0.24 T 1.000 D 0.339 D 0.99 D 0.925 D Pathogenic 11_71944242_C->T 11 71944242 71944242 C T snp 284.77 0/1 99 22 12 10 0.45 intronic rs714548 INPPL1 AR NM_001567 exon17 c.8179+35C>T 0.024361 0.0625 0.014631 0.0269 0.0839 Uncertain 11_71945332_A->G 11 71945332 71945332 A G snp 1605.77 0/1 99 124 59 65 0.52 exonic rs61736312 INPPL1 AR synonymous SNV NM_001567 exon20 c.A2220G p.S740S 0.157748 0.1508 0.130217 0.0992 0.1558 Uncertain 11_71946088_G->- 11 71946088 71946088 G - indel 535.73 0/1 99 27 10 17 0.63 intronic rs3216093 INPPL1 AR NM_001567 exon22 c.10131-71delG Uncertain 11_71946333_T->C 11 71946333 71946333 T C snp 2489.77 0/1 99 246 137 109 0.44 intronic rs2276046 INPPL1 AR NM_001567 exon23 c.10311-6T>C 0.136581 0.1498 0.110042 0.0935 0.1539 Uncertain 11_71948536_C->G 11 71948536 71948536 C G snp 1639.77 0/1 99 129 62 67 0.52 exonic rs11548491 INPPL1 AR nonsynonymous SNV NM_001567 exon26 c.C3248G p.A1083G 0.15655 0.1498 0.124037 0.0998 0.1538 0.45 T 0.000 P -1.054 T 0.0 T 0.0 T Pathogenic 11_71949064_C->G 11 71949064 71949064 C G snp 303.77 0/1 99 20 10 10 0.5 intronic rs11235472 INPPL1 AR NM_001567 exon27 c.13057-21C>G 0.195687 0.1875 0.151681 0.1749 0.1776 Uncertain 11_72004714_T->C 11 72004714 72004714 T C snp 1315.77 0/1 99 91 41 50 0.55 intronic rs680660 CLPB AR NM_001258393 exon1 c.249+55T>C 0.213259 0.2192 Uncertain 11_72005283_-->TG 11 72005283 72005283 - TG indel 2031.73 0/1 99 112 37 75 0.67 intronic rs397955729 CLPB AR NM_001258393 exon3 c.958-85insTG 0.132788 0.1558 Uncertain 11_72040784_T->C 11 72040784 72040784 T C snp 721.77 0/1 99 88 57 31 0.35 exonic rs36049191 CLPB AR synonymous SNV NM_030813 exon7 c.A930G p.E310E 0.135383 0.1577 0.093177 0.0673 0.1633 1.000 P -1.061 T Likely benign 11_72141222_C->A 11 72141222 72141222 C A snp 58.77 0/1 87 11 7 4 0.36 intronic rs75184960 CLPB AR NM_001258393 exon14 c.136945-133C>A 0.0239617 0.0635 Uncertain 11_72281724_C->T 11 72281724 72281724 C T snp 713.77 0/1 99 48 22 26 0.54 ncRNA_exonic LINC01537 AU Uncertain 11_72281818_A->G 11 72281818 72281818 A G snp 1209.77 0/1 99 141 92 49 0.35 ncRNA_exonic rs380126 LINC01537 AU 0.838458 0.8284 0.8842 0.7970 Uncertain 11_72281884_C->T 11 72281884 72281884 C T snp 1713.77 0/1 99 187 114 73 0.39 ncRNA_exonic rs433640 LINC01537 AU 0.727636 0.8244 0.8465 0.8010 Uncertain 11_72281941_A->G 11 72281941 72281941 A G snp 5637.77 1/1 99 204 0 204 1.0 ncRNA_exonic rs79982683 LINC01537 AU 0.0970447 0.1895 0.1105 0.2255 Uncertain 11_72282039_T->C 11 72282039 72282039 T C snp 5277.77 1/1 99 180 0 180 1.0 ncRNA_intronic rs409512 LINC01537 AU 0.999401 1 0.9998 1 Uncertain 11_72287715_G->A 11 72287715 72287715 G A snp 1930.77 0/1 99 145 64 81 0.56 UTR3 rs187011666 PDE2A AU 0.00119808 0.006 Uncertain 11_72288599_G->A 11 72288599 72288599 G A snp 1469.77 0/1 99 117 60 57 0.49 exonic rs1980091 PDE2A AU synonymous SNV NM_001143839 exon30 c.C2634T p.Y878Y 0.286542 0.2758 0.292469 0.2992 0.2612 Uncertain 11_72288651_G->- 11 72288651 72288651 G - indel 356.73 0/1 99 43 15 28 0.65 intronic rs3842266 PDE2A AU NM_001143839 exon1 c.211+13delG 0.572045 0.5717 0.7539 Uncertain 11_72288664_C->T 11 72288664 72288664 C T snp 446.77 0/1 99 25 12 13 0.52 intronic rs1980090 PDE2A AU NM_001143839 exon1 c.211+26C>T 0.682508 0.752 0.571077 0.5742 0.7554 Uncertain 11_72288725_C->T 11 72288725 72288725 C T snp 32.77 0/1 61 5 3 2 0.4 intronic rs1980089 PDE2A AU NM_001143839 exon1 c.211+87C>T 0.682708 0.751 Uncertain 11_72289176_C->G 11 72289176 72289176 C G snp 716.77 1/1 54 18 0 18 1.0 intronic rs379276 PDE2A AU NM_001143839 exon2 c.849-100C>G 0.976637 1 Uncertain 11_72289291_T->C 11 72289291 72289291 T C snp 1510.77 0/1 99 121 55 66 0.55 exonic rs1135029 PDE2A AU synonymous SNV NM_001143839 exon29 c.A2580G p.A860A 0.298323 0.245 0.414061 0.4322 0.2477 Uncertain 11_72290199_G->A 11 72290199 72290199 G A snp 1149.77 0/1 99 85 40 45 0.53 intronic rs11605051 PDE2A AU NM_001143839 exon5 c.1900-128G>A 0.314497 0.2431 Uncertain 11_72290629_G->A 11 72290629 72290629 G A snp 582.77 0/1 99 41 15 26 0.63 exonic rs392565 PDE2A AU synonymous SNV NM_001143839 exon25 c.C2184T p.I728I 0.285543 0.2798 0.288002 0.2988 0.2687 Uncertain 11_72291477_G->A 11 72291477 72291477 G A snp 303.77 0/1 99 18 9 9 0.5 intronic rs56350365 PDE2A AU NM_001143839 exon7 c.3193-143G>A 0.291134 0.245 Uncertain 11_72291883_C->A 11 72291883 72291883 C A snp 725.77 1/1 54 23 0 23 1.0 intronic rs644698 PDE2A AU NM_001143839 exon8 c.3502-46C>A 0.976637 1 0.976128 0.9937 1 Uncertain 11_72291927_T->C 11 72291927 72291927 T C snp 1155.77 1/1 84 40 0 40 1.0 splicing rs577536 PDE2A AU NM_001143839 exon8 c.3502-2T>C 0.976637 1 0.976128 0.9937 1 Pathogenic 11_72292167_G->T 11 72292167 72292167 G T snp 365.77 0/1 99 24 11 13 0.54 intronic rs3781939 PDE2A AU NM_001143839 exon8 c.3590+150G>T 0.3127 0.245 Uncertain 11_72292176_C->T 11 72292176 72292176 C T snp 679.77 1/1 51 19 0 19 1.0 intronic rs7108477 PDE2A AU NM_001143839 exon8 c.3590+159C>T 0.976637 1 Uncertain 11_72292185_C->A 11 72292185 72292185 C A snp 182.77 0/1 99 12 5 7 0.58 intronic rs3781938 PDE2A AU NM_001143839 exon8 c.3590+168C>A 0.312899 0.245 Uncertain 11_72292353_-->A 11 72292353 72292353 - A indel 3799.73 1/1 99 91 0 91 1.0 intronic rs397697623 PDE2A AU NM_001143839 exon9 c.3973-47insA 0.984026 1 0.982982 0.9956 1 Uncertain 11_72292631_C->A 11 72292631 72292631 C A snp 212.84 1/1 18 7 0 7 1.0 intronic rs399874 PDE2A AU NM_001143839 exon9 c.4096+108C>A 0.674521 0.5248 Uncertain 11_72292860_C->T 11 72292860 72292860 C T snp 475.77 1/1 36 16 0 16 1.0 intronic rs376724 PDE2A AU NM_001143839 exon10 c.4493-60C>T 0.674121 0.5248 0.789093 Uncertain 11_72293039_G->A 11 72293039 72293039 G A snp 1561.77 1/1 99 61 0 61 1.0 intronic rs379638 PDE2A AU NM_001143839 exon10 c.4564+48G>A 0.976637 1 0.976128 0.9938 1 Uncertain 11_72293079_A->G 11 72293079 72293079 A G snp 1094.77 1/1 78 41 0 41 1.0 intronic rs414178 PDE2A AU NM_001143839 exon10 c.4564+88A>G 0.976837 1 Uncertain 11_72293324_T->C 11 72293324 72293324 T C snp 96.28 1/1 9 3 0 3 1.0 intronic rs371903 PDE2A AU NM_001143839 exon11 c.5060-163T>C 0.976637 1 Uncertain 11_72293602_A->G 11 72293602 72293602 A G snp 1852.77 1/1 96 70 1 69 0.99 exonic rs4944557 PDE2A AU synonymous SNV NM_001143839 exon20 c.T1716C p.D572D 0.954872 1 0.951332 0.9870 0.9997 Uncertain 11_72294440_G->A 11 72294440 72294440 G A snp 220.77 0/1 99 25 14 11 0.44 intronic rs426907 PDE2A AU NM_001143839 exon12 c.6054-41G>A 0.26897 0.2808 0.266672 0.2846 0.2644 Uncertain 11_72294714_C->T 11 72294714 72294714 C T snp 305.78 1/1 24 9 0 9 1.0 intronic rs408269 PDE2A AU NM_001143839 exon12 c.6132+155C>T 0.976637 1 Uncertain 11_72294734_-->C 11 72294734 72294734 - C indel 224.77 1/1 21 8 0 8 1.0 intronic rs397824352 PDE2A AU NM_001143839 exon12 c.6132+175insC 0.976238 0.999 Uncertain 11_72295502_T->C 11 72295502 72295502 T C snp 6232.77 1/1 99 210 0 210 1.0 intronic rs366711 PDE2A AU NM_001143839 exon14 c.7167-92T>C 0.981629 1 0.9955 1 0.000 P -1.010 T Uncertain 11_72295906_A->G 11 72295906 72295906 A G snp 4362.77 1/1 99 156 0 156 1.0 intronic rs452228 PDE2A AU NM_001143839 exon15 c.7488-9A>G 0.976637 1 0.976128 0.9937 1 Uncertain 11_72296039_G->T 11 72296039 72296039 G T snp 678.77 0/1 99 51 22 29 0.57 intronic rs907850 PDE2A AU NM_001143839 exon15 c.7561+51G>T 0.313898 0.245 0.428538 0.4287 0.2470 Uncertain 11_72296353_G->A 11 72296353 72296353 G A snp 179.77 0/1 99 14 8 6 0.43 intronic rs59776769 PDE2A AU NM_001143839 exon16 c.7987-61G>A 0.141573 0.2034 0.118922 Uncertain 11_72296700_C->T 11 72296700 72296700 C T snp 1177.77 1/1 84 45 0 45 1.0 intronic rs424234 PDE2A AU NM_001143839 exon17 c.8210+63C>T 0.976637 1 0.980289 Uncertain 11_72296898_C->A 11 72296898 72296898 C A snp 139.03 1/1 12 4 0 4 1.0 intronic rs10751207 PDE2A AU NM_001143839 exon18 c.8686-215C>A 0.976637 1 Uncertain 11_72296901_A->T 11 72296901 72296901 A T snp 139.03 1/1 12 4 0 4 1.0 intronic rs10751208 PDE2A AU NM_001143839 exon18 c.8686-212A>T 0.975439 1 Uncertain 11_72301516_C->A 11 72301516 72301516 C A snp 1269.77 0/1 99 107 50 57 0.53 exonic rs200392115 PDE2A AU nonsynonymous SNV NM_001143839 exon7 c.G637T p.G213W 0.000998403 0.005 0.000543 0.0022 0.0228 0.2 T 1 N -0.937 T 0.954 T 0.419 D Pathogenic 11_72302191_C->G 11 72302191 72302191 C G snp 630.77 0/1 99 33 13 20 0.61 intronic rs429075 PDE2A AU NM_001143839 exon25 c.13913-149C>G 0.674321 0.755 Uncertain 11_72307522_T->A 11 72307522 72307522 T A snp 56.77 0/1 85 20 15 5 0.25 intronic rs149480349 PDE2A AU NM_001143839 exon26 c.19209-114T>A 0.215256 0.2589 Uncertain 11_72307524_T->A 11 72307524 72307524 T A snp 123.77 0/1 99 21 14 7 0.33 intronic rs186092662 PDE2A AU NM_001143839 exon26 c.19209-112T>A 0.215256 0.2589 Uncertain 11_72307526_T->A 11 72307526 72307526 T A snp 139.77 0/1 99 23 14 9 0.39 intronic rs531234972 PDE2A AU NM_001143839 exon26 c.19209-110T>A 0.215256 0.2589 Uncertain 11_72307528_T->A 11 72307528 72307528 T A snp 179.77 0/1 99 23 13 10 0.43 intronic rs57087192 PDE2A AU NM_001143839 exon26 c.19209-108T>A 0.535543 0.5228 Uncertain 11_72307742_G->A 11 72307742 72307742 G A snp 935.77 0/1 99 61 24 37 0.61 intronic rs1877652 PDE2A AU NM_001143839 exon26 c.19265+50G>A 0.264177 0.2798 0.260397 0.2722 0.2612 Uncertain 11_72308512_CCCTGC->- 11 72308512 72308517 CCCTGC - indel 392.73 0/1 99 21 15 6 0.29 intronic rs142826924 PDE2A AU NM_001143839 exon27 c.20126-41_20126-36delCCCTGC 0.5465 0.7461 Uncertain 11_72309540_C->T 11 72309540 72309540 C T snp 2196.77 0/1 99 189 97 92 0.49 intronic rs4943939 PDE2A AU NM_001143839 exon27 c.20236+877C>T 0.565495 0.754 0.5329 0.7733 Uncertain 11_72326210_A->G 11 72326210 72326210 A G snp 1027.77 1/1 75 36 0 36 1.0 intronic rs572421 PDE2A AU NM_001143839 exon29 c.31368+6415A>G 0.809105 0.8819 0.763670 0.7984 0.9043 Uncertain 11_72326275_C->T 11 72326275 72326275 C T snp 109.77 0/1 99 18 11 7 0.39 intronic rs754042 PDE2A AU NM_001143839 exon29 c.31368+6480C>T 0.144768 0.1885 Uncertain 11_72354028_C->A 11 72354028 72354028 C A snp 1516.77 0/1 99 122 55 67 0.55 intronic rs907853 PDE2A AU NM_001143839 exon30 c.65077+524C>A 0.3123 0.2907 Uncertain 11_72361883_T->C 11 72361883 72361883 T C snp 114.77 0/1 99 9 5 4 0.44 intronic rs341038 PDE2A AU NM_001143839 exon30 c.65077+8379T>C 0.53754 0.4365 Uncertain 11_72361894_CCCTGAC->- 11 72361894 72361900 CCCTGAC - indel 817.74 1/1 27 9 0 9 1.0 intronic rs57390404 PDE2A AU NM_001143839 exon30 c.65077+8390_65077+8396delCCCTGAC 0.702875 0.4881 Uncertain 11_72363759_G->A 11 72363759 72363759 G A snp 1814.77 0/1 99 186 101 85 0.46 intronic rs12146545 PDE2A AU NM_001143839 exon30 c.65077+10255G>A 0.333866 0.2887 0.4278 0.2537 Uncertain 11_72366929_C->A 11 72366929 72366929 C A snp 832.77 0/1 99 64 26 38 0.59 intronic rs907858 PDE2A AU NM_001146209 exon31 c.90914-12412C>A 0.349441 0.2887 Uncertain 11_72367102_C->T 11 72367102 72367102 C T snp 180.9 1/1 15 6 0 6 1.0 intronic rs907857 PDE2A AU NM_001146209 exon31 c.90914-12239C>T 0.349241 0.2887 Uncertain 11_72368986_T->G 11 72368986 72368986 T G snp 787.77 0/1 99 75 43 32 0.43 intronic rs3781916 PDE2A AU NM_001146209 exon31 c.90914-10355T>G 0.346645 0.3016 0.4510 0.2576 Uncertain 11_72385333_C->A 11 72385333 72385333 C A snp 139.77 0/1 99 16 9 7 0.44 UTR5 rs577428130 PDE2A AU 0.000199681 0.001 Uncertain 11_72396800_A->G 11 72396800 72396800 A G snp 1573.77 0/1 99 129 60 69 0.53 intronic rs12802369 ARAP1 AU NM_001040118 exon1 c.18+74A>G 0.416134 0.3175 0.545394 0.5107 0.3343 Uncertain 11_72396990_G->A 11 72396990 72396990 G A snp 1246.77 0/1 99 101 49 52 0.51 intronic rs12805218 ARAP1 AU NM_001040118 exon2 c.378-96G>A 0.413538 0.3155 0.4890 0.2916 0 D 0.0 P -0.954 T Uncertain 11_72399451_A->G 11 72399451 72399451 A G snp 622.77 0/1 99 109 80 29 0.27 intronic rs7944294 ARAP1 AU NM_001040118 exon5 c.2791-48A>G 0.24401 0.2312 0.237831 0.2725 0.2358 Uncertain 11_72399607_G->A 11 72399607 72399607 G A snp 923.77 0/1 99 74 35 39 0.53 intronic rs2306609 ARAP1 AU NM_001040118 exon5 c.2874+25G>A 0.421326 0.2996 0.532112 0.5123 0.2975 Uncertain 11_72404003_A->G 11 72404003 72404003 A G snp 735.77 1/1 57 20 0 20 1.0 intronic rs11235567 ARAP1 AU NM_001040118 exon6 c.7122+173A>G 0.831669 0.621 Uncertain 11_72404893_C->T 11 72404893 72404893 C T snp 808.77 0/1 99 93 58 35 0.38 intronic rs79145843 ARAP1 AU NM_001040118 exon8 c.8142+43C>T 0.0569089 0.2272 0.001545 0.0258 0.2711 Uncertain 11_72404958_A->C 11 72404958 72404958 A C snp 1701.77 1/1 99 56 0 56 1.0 intronic rs12276972 ARAP1 AU NM_001040118 exon8 c.8142+108A>C 0.83147 0.621 Uncertain 11_72405868_C->T 11 72405868 72405868 C T snp 285.77 0/1 99 25 14 11 0.44 intronic rs2306608 ARAP1 AU NM_001040118 exon9 c.9316-156C>T 0.463059 0.376 Uncertain 11_72406297_C->A 11 72406297 72406297 C A snp 80.77 0/1 63 5 2 3 0.6 intronic rs35250343 ARAP1 AU NM_001040118 exon10 c.9723-134C>A 0.463259 0.376 Uncertain 11_72407770_G->C 11 72407770 72407770 G C snp 628.77 0/1 99 60 33 27 0.45 intronic rs2306612 ARAP1 AU NM_001040118 exon13 c.10991+71G>C 0.462859 0.376 Uncertain 11_72407884_C->T 11 72407884 72407884 C T snp 56.74 1/1 6 2 0 2 1.0 intronic rs2306613 ARAP1 AU NM_001040118 exon14 c.11319-143C>T 0.839856 0.619 Uncertain 11_72407977_C->A 11 72407977 72407977 C A snp 576.77 0/1 99 41 15 26 0.63 intronic rs11602233 ARAP1 AU NM_001040118 exon14 c.11319-50C>A 0.462859 0.376 0.543383 0.5426 0.4023 Uncertain 11_72408055_G->C 11 72408055 72408055 G C snp 1279.77 0/1 99 127 71 56 0.44 exonic rs56200889 ARAP1 AU nonsynonymous SNV NM_015242 exon20 c.C2404G p.Q802E 0.249201 0.2431 0.235544 0.2606 0.2330 0.02 T 0.000 P -1.015 T 0.052 T 0.115 T Pathogenic 11_72408657_C->T 11 72408657 72408657 C T snp 1524.77 0/1 99 94 41 53 0.56 exonic rs2291289 ARAP1 AU synonymous SNV NM_015242 exon18 c.G2040A p.L680L 0.258986 0.2569 0.341291 0.3780 0.2506 Uncertain 11_72409189_C->T 11 72409189 72409189 C T snp 681.77 0/1 99 48 26 22 0.46 intronic rs12575364 ARAP1 AU NM_001040118 exon17 c.12443+38C>T 0.250799 0.244 0.231200 0.3212 0.2776 Uncertain 11_72409260_C->T 11 72409260 72409260 C T snp 143.77 0/1 99 9 4 5 0.56 intronic rs7105818 ARAP1 AU NM_001040118 exon17 c.12443+109C>T 0.46226 0.375 Uncertain 11_72411082_T->C 11 72411082 72411082 T C snp 1171.77 0/1 99 111 56 55 0.5 intronic rs7110501 ARAP1 AU NM_001040118 exon19 c.13889+485T>C 0.460863 0.375 Uncertain 11_72411099_C->T 11 72411099 72411099 C T snp 1141.77 0/1 99 119 64 55 0.46 intronic rs10898866 ARAP1 AU NM_001040118 exon19 c.13889+502C>T 0.252196 0.247 Uncertain 11_72412675_A->G 11 72412675 72412675 A G snp 632.77 0/1 99 30 6 24 0.8 intronic rs11235574 ARAP1 AU NM_001040118 exon20 c.15985-18A>G 0.461661 0.376 0.520484 0.5098 0.3796 Uncertain 11_72414189_G->A 11 72414189 72414189 G A snp 534.77 0/1 99 42 18 24 0.57 intronic rs3765105 ARAP1 AU NM_001040118 exon21 c.17416+65G>A 0.434505 0.38 Uncertain 11_72416732_G->C 11 72416732 72416732 G C snp 839.77 0/1 99 45 18 27 0.6 intronic rs4598696 ARAP1 AU NM_001040118 exon23 c.20141-117G>C 0.28734 0.2431 Uncertain 11_72416733_G->T 11 72416733 72416733 G T snp 876.77 0/1 99 45 18 27 0.6 intronic rs728847 ARAP1 AU NM_001040118 exon23 c.20141-116G>T 0.287141 0.2431 Uncertain 11_72528973_C->T 11 72528973 72528973 C T snp 427.77 1/1 33 16 0 16 1.0 intronic rs891655 ATG16L2 AU NM_033388 exon3 c.3410+73C>T 0.964657 1 Uncertain 11_72532569_G->T 11 72532569 72532569 G T snp 1447.77 1/1 99 53 0 53 1.0 intronic rs1864651 ATG16L2 AU NM_033388 exon4 c.7222-143G>T 0.952676 1 0.9946 1 Uncertain 11_72532621_T->G 11 72532621 72532621 T G snp 1574.77 1/1 99 62 0 62 1.0 intronic rs1864652 ATG16L2 AU NM_033388 exon4 c.7222-91T>G 0.999201 1 0.9999 1 Uncertain 11_72532708_C->T 11 72532708 72532708 C T snp 733.77 1/1 54 27 0 27 1.0 splicing rs11235603 ATG16L2 AU NM_033388 exon4 c.7222-4C>T 0.996206 1 0.996689 0.9991 1 Pathogenic 11_72533711_A->G 11 72533711 72533711 A G snp 1545.77 1/1 99 49 0 49 1.0 intronic rs4944806 ATG16L2 AU NM_033388 exon6 c.8098+123A>G 0.997204 1 Uncertain 11_72536272_G->A 11 72536272 72536272 G A snp 685.77 0/1 99 43 20 23 0.53 intronic rs2303969 ATG16L2 AU NM_033388 exon10 c.10856-74G>A 0.394369 0.4464 Uncertain 11_72538141_T->C 11 72538141 72538141 T C snp 1377.77 1/1 99 39 0 39 1.0 intronic rs3862793 ATG16L2 AU NM_033388 exon14 c.12742-91T>C 0.996406 1 Uncertain 11_72540225_G->T 11 72540225 72540225 G T snp 897.77 1/1 66 33 0 33 1.0 intronic rs891657 ATG16L2 AU NM_033388 exon18 c.14857-122G>T 0.992412 1 Uncertain 11_72552419_-->T 11 72552419 72552419 - T indel 80.73 0/1 99 21 13 8 0.38 intronic rs201145516 FCHSD2 AU NM_014824 exon3 c.2663-79insT Uncertain 11_72598704_G->A 11 72598704 72598704 G A snp 757.77 1/1 57 22 0 22 1.0 intronic rs7129851 FCHSD2 AU NM_014824 exon9 c.48784+85G>A 0.996605 1 Uncertain 11_72788823_C->T 11 72788823 72788823 C T snp 982.77 0/1 99 126 76 50 0.4 intronic rs6592510 FCHSD2 AU NM_014824 exon18 c.244904-5916C>T 0.751398 0.6002 Uncertain 11_72945341_C->T 11 72945341 72945341 C T snp 6511.77 1/1 99 250 1 249 1.0 exonic rs2511241 P2RY2 AU nonsynonymous SNV NM_002564 exon3 c.C137T p.P46L 0.907348 0.8839 0.920222 0.9222 0.8860 1 T 0.041 P -0.955 T 0.0 T 0.0 T Pathogenic 11_72946020_C->T 11 72946020 72946020 C T snp 7755.77 1/1 99 249 0 249 1.0 exonic rs1783596 P2RY2 AU synonymous SNV NM_002564 exon3 c.C816T p.R272R 0.576677 0.619 0.560065 0.5612 0.6452 Uncertain 11_72946140_G->C 11 72946140 72946140 G C snp 7532.77 1/1 99 250 0 250 1.0 exonic rs3741156 P2RY2 AU nonsynonymous SNV NM_002564 exon3 c.G936C p.R312S 0.272364 0.5397 0.176883 0.2747 0.5572 0.55 T 0.343 P -0.920 T 0.015 T 0.008 T Pathogenic 11_73007854_C->T 11 73007854 73007854 C T snp 3284.77 0/1 99 247 126 121 0.49 exonic rs11235715 P2RY6 AU synonymous SNV NM_001277208 exon2 c.C594T p.F198F 0.01877 0.0516 0.012244 0.0226 0.0697 Uncertain 11_73101832_C->T 11 73101832 73101832 C T snp 1371.77 0/1 99 138 76 62 0.45 exonic rs201819099 RELT AU synonymous SNV NM_032871 exon4 c.C153T p.C51C 7.548e-05 0.0010 Uncertain 11_73101988_G->T 11 73101988 73101988 G T snp 1443.77 0/1 99 97 36 61 0.63 intronic rs142695967 RELT AU NM_032871 exon4 c.1785+22G>T 0.00958466 0.0476 0.0025 0.0336 Uncertain 11_73362766_C->T 11 73362766 73362766 C T snp 4425.77 1/1 99 174 0 174 1.0 intronic rs670811 PLEKHB1 AU NM_001130033 exon4 c.5179-66C>T 0.928714 0.9196 Uncertain 11_73363928_G->A 11 73363928 73363928 G A snp 1023.77 0/1 99 82 34 48 0.59 intronic rs79873646 PLEKHB1 AU NM_001130033 exon5 c.6366-91G>A 0.00938498 0.0427 Uncertain 11_73364368_C->G 11 73364368 73364368 C G snp 215.77 0/1 99 23 14 9 0.39 intronic rs6592527 PLEKHB1 AU NM_001130033 exon5 c.6406+309C>G 0.673522 0.75 0.7349 0.8768 Uncertain 11_73364629_T->A 11 73364629 73364629 T A snp 407.77 0/1 99 40 22 18 0.45 intronic rs7942217 PLEKHB1 AU NM_001130033 exon5 c.6406+570T>A 0.673522 0.75 Uncertain 11_73366697_G->A 11 73366697 73366697 G A snp 549.77 0/1 99 42 21 21 0.5 intronic rs2008734 PLEKHB1 AU NM_021200 exon6 c.9194-150G>A 0.430312 0.5139 Uncertain 11_73372299_A->G 11 73372299 73372299 A G snp 50.74 1/1 6 2 0 2 1.0 intronic rs7128512 PLEKHB1 AU NM_001130033 exon7 c.14857-211A>G 0.749401 0.8105 Uncertain 11_73390618_A->G 11 73390618 73390618 A G snp 723.77 0/1 99 66 33 33 0.5 intronic rs17132305 RAB6A AU NM_001243718 exon2 c.1756-80A>G 0.0828674 0.1558 Uncertain 11_73390773_AA->- 11 73390773 73390774 AA - indel 964.73 0/1 99 47 24 23 0.49 intronic rs553826340 RAB6A AU NM_001243718 exon2 c.1823+8_1823+9delAA 0.454872 0.626 0.473962 0.5287 0.6148 Uncertain 11_73415074_A->- 11 73415074 73415074 A - indel 79.73 0/1 99 23 13 10 0.43 intronic RAB6A AU NM_002869 exon3 c.29522-3390delA Uncertain 11_73441772_A->C 11 73441772 73441772 A C snp 1226.77 1/1 87 49 0 49 1.0 intronic rs2037709 RAB6A AU NM_001243718 exon4 c.52867-37A>C 0.922923 1 0.899168 0.9379 0.9998 Uncertain 11_73498933_T->G 11 73498933 73498933 T G snp 300.77 0/1 99 38 24 14 0.37 UTR5 rs1792174 MRPL48 AU 0.54353 0.3681 0.511389 Uncertain 11_73528717_G->C 11 73528717 73528717 G C snp 857.77 0/1 99 67 31 36 0.54 intronic rs1670564 MRPL48 AU NM_016055 exon4 c.37736-8035G>C 0.539337 0.3681 Uncertain 11_73587997_G->C 11 73587997 73587997 G C snp 375.77 0/1 99 26 11 15 0.58 intronic rs2010583 PAAF1 AU 0.16853 0.1716 Uncertain 11_73588240_G->A 11 73588240 73588240 G A snp 565.77 0/1 99 51 28 23 0.45 intronic rs1122373 PAAF1 AU NM_025155 exon1 c.47+127G>A 0.16873 0.1716 Uncertain 11_73600351_T->C 11 73600351 73600351 T C snp 431.77 0/1 99 32 16 16 0.5 intronic rs12295206 PAAF1 AU NM_001267804 exon5 c.4049-1805T>C 0.105032 0.1716 Uncertain 11_73610110_A->C 11 73610110 73610110 A C snp 612.77 0/1 99 39 17 22 0.56 intronic rs1670558 PAAF1 AU NM_001267804 exon6 c.12083-80A>C 0.459864 0.2986 Uncertain 11_73611478_C->G 11 73611478 73611478 C G snp 1266.77 0/1 99 116 59 57 0.49 intronic rs2067913 PAAF1 AU NM_001267804 exon7 c.13358+13C>G 0.315096 0.1865 0.290159 0.2200 0.1912 Uncertain 11_73611520_A->G 11 73611520 73611520 A G snp 909.77 0/1 99 72 37 35 0.49 intronic rs3741139 PAAF1 AU NM_001267804 exon7 c.13358+55A>G 0.152356 0.1716 Uncertain 11_73620537_C->G 11 73620537 73620537 C G snp 1493.77 0/1 99 168 98 70 0.42 exonic rs3741138 PAAF1 AU nonsynonymous SNV NM_001267806 exon7 c.C281G p.A94G 0.121805 0.1716 0.099261 0.1094 0.1849 0.21 T 0.951 P -1.022 T 0.075 T 0.027 T Pathogenic 11_73638306_G->A 11 73638306 73638306 G A snp 2606.77 0/1 99 217 104 113 0.52 intronic rs935985 PAAF1 AU NM_001267804 exon13 c.40222-23G>A 0.329473 0.1865 0.325504 0.2472 0.1933 Uncertain 11_73669310_C->A 11 73669310 73669310 C A snp 4158.77 1/1 99 157 0 157 1.0 intronic rs10793068 DNAJB13 AR NM_153614 exon2 c.7247-51C>A 0.49381 0.4425 0.462898 Uncertain 11_73669334_A->C 11 73669334 73669334 A C snp 4930.77 1/1 99 176 0 176 1.0 intronic rs10793069 DNAJB13 AR NM_153614 exon2 c.7247-27A>C 0.460463 0.4425 0.431311 0.4244 0.4736 Uncertain 11_73670645_T->C 11 73670645 73670645 T C snp 3304.77 1/1 99 130 0 130 1.0 exonic rs653263 DNAJB13 AR synonymous SNV NM_153614 exon3 c.T279C p.H93H 0.601038 0.4534 0.576082 0.5102 0.4773 Uncertain 11_73670796_TTATT->- 11 73670796 73670800 TTATT - indel 629.73 0/1 99 34 8 26 0.76 intronic rs148856834 DNAJB13 AR NM_153614 exon3 c.8586+96_8586+100delTTATT Uncertain 11_73675857_T->C 11 73675857 73675857 T C snp 56.74 1/1 6 5 2 3 0.6 intronic rs28393876 DNAJB13 AR NM_153614 exon4 c.13808-65T>C 0.372204 0.3313 Uncertain 11_73679219_G->C 11 73679219 73679219 G C snp 465.77 0/1 99 32 17 15 0.47 intronic rs2306817 DNAJB13 AR NM_153614 exon6 c.17275-170G>C 0.252796 0.1637 Uncertain 11_73679232_A->G 11 73679232 73679232 A G snp 720.77 0/1 99 44 21 23 0.52 intronic rs2306818 DNAJB13 AR NM_153614 exon6 c.17275-157A>G 0.252995 0.1637 Uncertain 11_73681090_C->T 11 73681090 73681090 C T snp 1356.77 0/1 99 149 87 62 0.42 exonic rs2306819 DNAJB13 AR synonymous SNV NM_153614 exon8 c.C882T p.F294F 0.252196 0.1637 0.279994 0.2847 0.1388 1.000 P Uncertain 11_73681135_G->A 11 73681135 73681135 G A snp 1125.77 0/1 99 137 82 55 0.4 exonic rs72982975 DNAJB13 AR nonsynonymous SNV NM_153614 exon8 c.G927A p.M309I 0.223442 0.1637 0.239720 0.2456 0.1387 0.37 T 0.695 P -0.996 T 0.003 T 0.016 T Pathogenic 11_73686860_CTT->- 11 73686860 73686862 CTT - indel 414.75 1/1 24 11 0 11 1.0 intronic rs10535527 UCP2 AU NM_003355 exon2 c.665+144_665+146delCTT 0.521565 0.4157 Uncertain 11_73689104_G->A 11 73689104 73689104 G A snp 5937.77 1/1 99 206 0 206 1.0 exonic rs660339 UCP2 AU nonsynonymous SNV NM_003355 exon4 c.C164T p.A55V 0.416134 0.4177 0.417835 0.4113 0.4029 0.17 T 0.008 P -1.001 T 0.0 T 0.003 T CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000118811.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 ID=CM994639;DIS=Enhanced metabolic efficiency;TAG=DFP;PUB=10557023 DFP Pathogenic 11_73715542_G->A 11 73715542 73715542 G A snp 2060.77 1/1 99 80 1 79 0.99 exonic rs2075577 UCP3 AR,AD,AO synonymous SNV NM_003356 exon5 c.C630T p.Y210Y 0.590655 0.4246 0.634298 0.5655 0.4160 Uncertain 11_73715666_G->A 11 73715666 73715666 G A snp 763.77 0/1 99 85 50 35 0.41 intronic rs2734828 UCP3 AR,AD,AO NM_003356 exon3 c.3174+36G>A 0.272764 0.1637 0.277530 0.2572 0.1532 Uncertain 11_73717024_A->T 11 73717024 73717024 A T snp 789.77 1/1 60 21 0 21 1.0 intronic rs1726747 UCP3 AR,AD,AO NM_003356 exon4 c.4522+46A>T 0.551318 0.4435 0.088956 0.5225 0.4421 Uncertain 11_73717025_T->C 11 73717025 73717025 T C snp 774.77 1/1 57 20 0 20 1.0 intronic rs1685325 UCP3 AR,AD,AO NM_003356 exon4 c.4522+47T>C 0.551318 0.4435 0.109519 0.5225 0.4415 Uncertain 11_73717074_G->A 11 73717074 73717074 G A snp 574.77 0/1 99 40 21 19 0.47 intronic rs11235972 UCP3 AR,AD,AO NM_003356 exon4 c.4522+96G>A 0.186302 0.2768 Uncertain 11_73717121_C->T 11 73717121 73717121 C T snp 1298.77 0/1 99 119 63 56 0.47 intronic rs2075576 UCP3 AR,AD,AO NM_003356 exon5 c.4757-92C>T 0.211262 0.2798 Uncertain 11_73717254_A->G 11 73717254 73717254 A G snp 2238.77 0/1 99 206 114 92 0.45 exonic rs1800006 UCP3 AR,AD,AO synonymous SNV NM_003356 exon3 c.T297C p.Y99Y 0.343251 0.2808 0.361158 0.2864 0.2787 Uncertain 11_73760615_A->G 11 73760615 73760615 A G snp 33.77 0/1 62 6 4 2 0.33 intronic rs138954133 C2CD3 AR NM_015531 exon5 c.14945+28A>G 0.00139776 0.0069 0.0009 0.0125 Uncertain 11_73765731_A->C 11 73765731 73765731 A C snp 1495.77 0/1 99 144 78 66 0.46 intronic rs117181508 C2CD3 AR NM_015531 exon6 c.20074+15A>C 0.0253594 0.0734 0.009626 0.0200 0.0811 Uncertain 11_73785326_T->C 11 73785326 73785326 T C snp 2295.77 1/1 99 88 0 88 1.0 exonic rs4453265 C2CD3 AR synonymous SNV NM_015531 exon24 c.A4923G p.V1641V 0.451078 0.4425 0.451717 0.4773 0.4288 Uncertain 11_73789777_T->G 11 73789777 73789777 T G snp 2734.77 1/1 99 99 2 97 0.98 intronic rs1726735 C2CD3 AR NM_015531 exon9 c.44120+15T>G 0.599441 0.4474 0.612275 0.5429 0.4444 Uncertain 11_73796608_T->C 11 73796608 73796608 T C snp 2358.77 1/1 99 84 0 84 1.0 intronic rs1095424 C2CD3 AR NM_015531 exon11 c.51020-54T>C 0.996805 0.999 Uncertain 11_73796917_C->T 11 73796917 73796917 C T snp 534.77 0/1 99 37 17 20 0.54 exonic rs826058 C2CD3 AR nonsynonymous SNV NM_015531 exon21 c.G3656A p.R1219Q 0.35024 0.1577 0.374788 0.3170 0.1493 0.000 P -0.981 T 0.0 T 0.0 T Pathogenic 11_73803389_C->T 11 73803389 73803389 C T snp 80.77 0/1 28 4 1 3 0.75 intronic rs7941525 C2CD3 AR NM_015531 exon13 c.57818-71C>T 0.180312 0.2758 Uncertain 11_73803398_C->T 11 73803398 73803398 C T snp 34.77 0/1 63 5 3 2 0.4 intronic rs1790400 C2CD3 AR NM_015531 exon13 c.57818-62C>T 0.337859 0.1637 Uncertain 11_73806443_C->T 11 73806443 73806443 C T snp 1127.77 0/1 99 87 41 46 0.53 exonic rs11235995 C2CD3 AR nonsynonymous SNV NM_015531 exon17 c.G2990A p.R997Q 0.227835 0.2758 0.219313 0.2125 0.2709 1 T 0.119 P -0.977 T 0.005 T 0.001 T Pathogenic 11_73814438_G->C 11 73814438 73814438 G C snp 3390.77 0/1 99 250 114 136 0.54 exonic rs34050666 C2CD3 AR nonsynonymous SNV NM_015531 exon14 c.C2318G p.P773R 0.0253594 0.0744 0.009703 0.0197 0.0815 0.21 T 1 N -1.097 T 0.928 T 0.734 D Pathogenic 11_73825503_T->C 11 73825503 73825503 T C snp 2174.77 0/1 99 172 76 96 0.56 exonic rs10898957 C2CD3 AR synonymous SNV NM_015531 exon10 c.A1656G p.P552P 0.16853 0.2748 0.156168 0.1938 0.2714 Uncertain 11_73844434_A->G 11 73844434 73844434 A G snp 817.77 0/1 99 48 19 29 0.6 intronic rs61901246 C2CD3 AR NM_015531 exon26 c.98827-35A>G 0.280152 0.2808 0.281226 0.2371 0.2759 Uncertain 11_73850973_C->G 11 73850973 73850973 C G snp 172.77 0/1 99 13 7 6 0.46 intronic rs11236018 C2CD3 AR NM_015531 exon28 c.105231+100C>G 0.288738 0.3016 Uncertain 11_73881580_T->A 11 73881580 73881580 T A snp 125.78 0/1 27 6 1 5 0.83 intronic rs3814724 C2CD3 AR NM_015531 exon31 c.136140-202T>A 0.274561 0.2798 Uncertain 11_73882260_T->G 11 73882260 73882260 T G snp 4967.77 1/1 99 174 0 174 1.0 UTR5 rs1726746 PPME1 AU 0.580471 0.4415 0.5310 0.4440 Uncertain 11_73946931_T->C 11 73946931 73946931 T C snp 1518.77 0/1 99 128 60 68 0.53 intronic rs2302509 PPME1 AU NM_001271593 exon8 c.64479-14T>C 0.0215655 0.0575 0.009743 0.0293 0.1021 Uncertain 11_73947080_C->G 11 73947080 73947080 C G snp 1345.77 0/1 99 111 57 54 0.49 intronic rs2302508 PPME1 AU NM_001271593 exon8 c.64545+69C>G 0.141374 0.2718 0.114542 Uncertain 11_73964689_G->A 11 73964689 73964689 G A snp 735.77 0/1 99 44 19 25 0.57 UTR3 rs3741133 PPME1 AU 0.187899 0.2659 Uncertain 11_73978243_G->A 11 73978243 73978243 G A snp 2902.77 0/1 99 236 110 126 0.53 exonic rs3741132 P4HA3 AU stopgain NM_001288748 exon13 c.C1678T p.Q560X 0.226637 0.2867 0.185892 0.2297 0.3116 0.3 T 1.000 P Pathogenic 11_73988167_C->T 11 73988167 73988167 C T snp 1323.77 0/1 99 121 63 58 0.48 exonic rs2282488 P4HA3 AU nonsynonymous SNV NM_001288748 exon9 c.G1198A p.D400N 0.177117 0.2808 0.129986 0.1806 0.2768 0.34 T 0.144 P -1.023 T 0.956 T 0.468 D Pathogenic 11_74015599_G->C 11 74015599 74015599 G C snp 77.77 0/1 99 7 4 3 0.43 intronic rs10898976 P4HA3 AU NM_182904 exon12 c.37165+142G>C 0.178115 0.2798 Uncertain 11_74047683_A->G 11 74047683 74047683 A G snp 5449.77 1/1 99 217 0 217 1.0 UTR3 rs1044782 PGM2L1 AU 0.597244 0.7887 0.553596 0.6350 0.8027 Uncertain 11_74049569_A->G 11 74049569 74049569 A G snp 5198.77 1/1 99 193 0 193 1.0 exonic rs3867270 PGM2L1 AU synonymous SNV NM_173582 exon13 c.T1710C p.S570S 0.554712 0.7887 0.513553 0.6208 0.8023 Uncertain 11_74053547_C->T 11 74053547 74053547 C T snp 1145.77 1/1 84 38 0 38 1.0 exonic rs592644 PGM2L1 AU nonsynonymous SNV NM_173582 exon12 c.G1591A p.V531I 0.740415 0.7956 0.714572 0.7157 0.8064 0.09 T 0.0 P -0.974 T 0.001 T 0.005 T Pathogenic 11_74054346_G->T 11 74054346 74054346 G T snp 1143.77 1/1 84 37 0 37 1.0 intronic rs641271 PGM2L1 AU NM_173582 exon5 c.6671-21G>T 0.619409 0.7887 0.572965 0.6396 0.8010 Uncertain 11_74057647_T->C 11 74057647 74057647 T C snp 546.77 1/1 42 14 0 14 1.0 intronic rs519083 PGM2L1 AU NM_173582 exon7 c.10080-129T>C 0.619609 0.7887 Uncertain 11_74057931_C->T 11 74057931 74057931 C T snp 3189.78 1/1 99 115 0 115 1.0 intronic rs3741130 PGM2L1 AU NM_173582 exon7 c.10178+57C>T 0.555711 0.7887 Uncertain 11_74079475_A->G 11 74079475 74079475 A G snp 2244.77 1/1 99 78 0 78 1.0 intronic rs11236077 PGM2L1 AU NM_173582 exon10 c.31840-61A>G 0.186502 0.2669 Uncertain 11_74085384_C->T 11 74085384 74085384 C T snp 702.77 1/1 51 23 0 23 1.0 intronic rs61288268 PGM2L1 AU NM_173582 exon13 c.37763-75C>T 0.176917 0.252 Uncertain 11_74085420_T->G 11 74085420 74085420 T G snp 1655.77 1/1 99 55 0 55 1.0 intronic rs35170680 PGM2L1 AU NM_173582 exon13 c.37763-39T>G 0.600839 0.8046 0.568766 0.6687 0.8138 Uncertain 11_74109166_A->G 11 74109166 74109166 A G snp 3618.77 1/1 99 135 0 135 1.0 exonic rs12049823 PGM2L1 AU nonsynonymous SNV NM_173582 exon1 c.T41C p.L14P 0.187899 0.2669 0.138457 0.1871 0.2861 0.03 T 1.000 P -1.005 T 0.0 T 0.0 T Pathogenic 11_74109231_G->T 11 74109231 74109231 G T snp 1393.77 0/1 99 132 64 68 0.52 UTR5 rs139636577 PGM2L1 AU 0.00838658 0.0407 0.000616 0.0040 0.0464 Uncertain 11_74109342_C->T 11 74109342 74109342 C T snp 939.77 1/1 69 29 0 29 1.0 UTR5 rs904155 PGM2L1 AU 1 1 Uncertain 11_74110353_A->G 11 74110353 74110353 A G snp 1916.77 1/1 99 71 0 71 1.0 upstream rs515924 PGM2L1 AU 0.183906 0.2639 0.5 . Uncertain 11_74110542_T->C 11 74110542 74110542 T C snp 681.77 1/1 51 21 0 21 1.0 intergenic rs676103 PGM2L1 AU 0.183906 0.2639 Uncertain 11_74168411_A->G 11 74168411 74168411 A G snp 3067.77 0/1 99 250 129 121 0.48 exonic rs2270676 KCNE3 AU synonymous SNV NM_005472 exon3 c.T198C p.F66F 0.141174 0.1627 0.114123 0.1336 0.1281 ID=CM057459;DIS=Meniere's disease, association with;TAG=DP;PUB=16374062 DP Uncertain 11_74203004_G->A 11 74203004 74203004 G A snp 80.78 0/1 24 4 1 3 0.75 UTR3 rs3741128 LIPT2 AU 0.504193 0.6329 Uncertain 11_74203308_T->A 11 74203308 74203308 T A snp 2368.77 0/1 99 201 99 102 0.51 exonic rs586088 LIPT2 AU nonsynonymous SNV NM_001144869 exon2 c.A568T p.T190S 0.508786 0.6329 0.5642 0.6109 0.11 T 0.019 P -0.923 T 0.077 T 0.053 T Pathogenic 11_74204198_G->A 11 74204198 74204198 G A snp 1313.77 1/1 93 52 0 52 1.0 intronic rs10736797 LIPT2 AU NM_001144869 exon2 c.1103-84G>A 1 1 1 1 Uncertain 11_74204269_T->G 11 74204269 74204269 T G snp 2023.77 1/1 99 76 0 76 1.0 intronic rs10736798 LIPT2 AU NM_001144869 exon2 c.1103-13T>G 0.883187 1 0.9808 1 0.000 P -1.010 T Uncertain 11_74204727_A->G 11 74204727 74204727 A G snp 839.77 1/1 60 33 0 33 1.0 exonic rs4944895 LIPT2 AU synonymous SNV NM_001144869 exon1 c.T22C p.L8L 0.932708 1 0.9948 1 Uncertain 11_74207856_G->A 11 74207856 74207856 G A snp 2795.77 1/1 99 108 0 108 1.0 intergenic rs643738 LIPT2 AU 0.921925 0.999 Uncertain 11_74208029_C->T 11 74208029 74208029 C T snp 1781.77 0/1 99 131 55 76 0.58 intergenic rs655025 LIPT2 AU 0.508986 0.6329 0.5495 0.5979 Uncertain 11_74208214_G->A 11 74208214 74208214 G A snp 1074.77 0/1 99 83 41 42 0.51 intergenic rs656506 LIPT2 AU 0.461062 0.6329 0.540552 0.5443 0.6386 Uncertain 11_74208592_G->T 11 74208592 74208592 G T snp 903.77 0/1 99 60 20 40 0.67 intergenic rs657339 LIPT2 AU 0.508387 0.6329 0.576873 0.5543 0.6341 Uncertain 11_74345897_C->T 11 74345897 74345897 C T snp 214.84 1/1 18 7 0 7 1.0 intronic rs74385358 POLD3 AU NM_006591 exon10 c.42037+157C>T 0.00339457 0.0149 Uncertain 11_74413872_A->G 11 74413872 74413872 A G snp 951.77 0/1 99 70 27 43 0.61 exonic rs34528207 CHRDL2 AU synonymous SNV NM_001304417 exon6 c.T892C p.L298L 0.292532 0.3264 0.200601 0.2043 0.3238 Uncertain 11_74429871_T->A 11 74429871 74429871 T A snp 914.77 0/1 99 95 54 41 0.43 exonic rs140676656 CHRDL2 AU nonsynonymous SNV NM_001304390 exon1 c.A29T p.D10V 0.000599042 0.003 0.0003 0.0044 0.23 T 1.000 D -1.056 T 0.988 D 0.776 D Pathogenic 11_74645032_-->TTCA 11 74645032 74645032 - TTCA indel 2186.73 1/1 99 77 0 77 1.0 intronic rs140602440 XRRA1 AU NM_001270380 exon11 c.90458+115insTTCA 0.399361 0.2312 Uncertain 11_74660292_A->G 11 74660292 74660292 A G snp 418.77 1/1 33 12 0 12 1.0 UTR5 rs643807 SPCS2 AU 0.280551 0.2262 0.355234 0.3921 0.2210 Uncertain 11_74660504_A->C 11 74660504 74660504 A C snp 4798.77 1/1 99 173 0 173 1.0 intronic rs1282689 SPCS2 AU NM_014752 exon1 c.114+60A>C 0.376997 0.2272 Uncertain 11_74660631_G->A 11 74660631 74660631 G A snp 3108.77 0/1 99 248 117 131 0.53 intronic rs1282690 SPCS2 AU NM_014752 exon1 c.114+187G>A 0.304712 0.2272 0.4738 0.2857 Uncertain 11_74676794_G->C 11 74676794 74676794 G C snp 4450.77 1/1 99 163 0 163 1.0 intronic rs514534 SPCS2 AU NM_014752 exon3 c.16477-13G>C 0.772165 0.7361 0.824792 0.7879 0.7510 Uncertain 11_74700896_A->G 11 74700896 74700896 A G snp 4101.77 1/1 99 145 0 145 1.0 intronic rs681566 NEU3 AU NM_006656 exon1 c.94+697A>G 0.785543 0.7669 Uncertain 11_74705696_T->C 11 74705696 74705696 T C snp 6754.77 1/1 99 246 0 246 1.0 exonic rs544115 NEU3 AU synonymous SNV NM_006656 exon2 c.T237C p.S79S 0.704073 0.7748 0.763272 0.7676 0.7771 Uncertain 11_74862356_T->C 11 74862356 74862356 T C snp 1388.77 1/1 99 52 0 52 1.0 UTR5 rs2851069 SLCO2B1 AU 0.376997 0.2679 0.491240 Uncertain 11_74862391_A->G 11 74862391 74862391 A G snp 2109.77 1/1 99 74 0 74 1.0 UTR5 rs1944612 SLCO2B1 AU 0.975839 0.8839 0.999461 0.9908 0.8861 Uncertain 11_74904362_T->C 11 74904362 74904362 T C snp 5297.77 1/1 99 190 0 190 1.0 exonic rs1621378 SLCO2B1 AU nonsynonymous SNV NM_007256 exon9 c.T1175C p.I392T 1 1 1 1 1 T 0.000 P -0.979 T 0.0 T 0.0 T Pathogenic 11_74907582_C->T 11 74907582 74907582 C T snp 3260.77 0/1 99 250 114 136 0.54 exonic rs2306168 SLCO2B1 AU nonsynonymous SNV NM_007256 exon10 c.C1457T p.S486F 0.180312 0.2609 0.128985 0.0809 0.2308 0.71 T 0.000 P -0.950 T 0.0 T 0.002 T ID=CM025891;DIS=Decreased enzyme activity;TAG=FP;PUB=12130747 FP Pathogenic 11_74914555_G->T 11 74914555 74914555 G T snp 987.77 0/1 99 78 41 37 0.47 intronic rs117082456 SLCO2B1 AU NM_007256 exon13 c.52046+83G>T 0.0071885 0.0337 Uncertain 11_74977185_C->T 11 74977185 74977185 C T snp 784.77 0/1 99 41 14 27 0.66 UTR3 rs2279130 ARRB1 AU 0.10004 0.2589 0.072694 0.0798 0.2234 Uncertain 11_74992267_A->C 11 74992267 74992267 A C snp 843.77 0/1 99 62 32 30 0.48 intronic rs746168 ARRB1 AU NM_020251 exon9 c.14980+81A>C 0.240016 0.1389 Uncertain 11_74993182_A->G 11 74993182 74993182 A G snp 451.77 0/1 99 49 28 21 0.43 intronic rs526013 ARRB1 AU NM_020251 exon10 c.15859+117A>G 0.251398 0.3353 Uncertain 11_74995226_G->A 11 74995226 74995226 G A snp 329.77 0/1 99 17 6 11 0.65 intronic rs480174 ARRB1 AU NM_020251 exon12 c.18072-52G>A 0.234425 0.3304 0.211564 Uncertain 11_74995350_C->T 11 74995350 74995350 C T snp 775.77 0/1 99 94 51 43 0.46 intronic rs647630 ARRB1 AU NM_020251 exon12 c.18117+27C>T 0.489816 0.3869 0.567149 0.5506 0.3861 Uncertain 11_75017436_A->G 11 75017436 75017436 A G snp 265.77 0/1 99 15 6 9 0.6 intronic rs536852 ARRB1 AU NM_020251 exon14 c.23877+16353A>G 0.540735 0.498 Uncertain 11_75017666_A->C 11 75017666 75017666 A C snp 1587.77 0/1 99 121 54 67 0.55 intronic rs515590 ARRB1 AU NM_020251 exon14 c.23877+16583A>C 0.336462 0.373 Uncertain 11_75023093_A->G 11 75023093 75023093 A G snp 4390.77 1/1 99 164 0 164 1.0 intronic rs546812 ARRB1 AU NM_020251 exon14 c.23877+22010A>G 0.652955 0.6935 0.6029 0.6389 Uncertain 11_75110680_C->T 11 75110680 75110680 C T snp 465.77 0/1 99 55 33 22 0.4 intronic rs7131286 RPS3 AU NM_001005 exon1 c.30+59C>T 0.29393 0.2669 0.256461 Uncertain 11_75115214_C->T 11 75115214 75115214 C T snp 1059.77 0/1 99 80 38 42 0.53 exonic rs118052894 RPS3 AU synonymous SNV NM_001005 exon5 c.C501T p.Y167Y 0.00159744 0.0079 0.0006 0.0081 1 D -0.470 T Likely benign 11_75116959_G->A 11 75116959 75116959 G A snp 144.77 0/1 99 12 7 5 0.42 UTR3 rs4348932 RPS3 AU 0.298722 0.2391 Uncertain 11_75141630_T->C 11 75141630 75141630 T C snp 1860.77 0/1 99 121 41 80 0.66 exonic rs11236430 KLHL35 AU synonymous SNV NM_001039548 exon1 c.A45G p.E15E 0.666134 0.6637 0.6535 0.7075 Uncertain 11_75141762_T->C 11 75141762 75141762 T C snp 1193.77 0/1 99 72 27 45 0.63 upstream rs3018101 KLHL35 AU 0.670128 0.6637 Uncertain 11_75150280_G->A 11 75150280 75150280 G A snp 389.77 0/1 99 23 9 14 0.61 intronic rs61897371 GDPD5 AU NM_030792 exon3 c.4372-643G>A 0.314696 0.3542 Uncertain 11_75151168_A->G 11 75151168 75151168 A G snp 261.8 1/1 21 7 0 7 1.0 intronic rs540269 GDPD5 AU NM_030792 exon3 c.4455+162A>G 0.712061 0.9286 Uncertain 11_75152243_C->T 11 75152243 75152243 C T snp 3822.77 1/1 99 135 0 135 1.0 exonic rs571353 GDPD5 AU nonsynonymous SNV NM_030792 exon14 c.G1438A p.A480T 0.667133 0.9236 0.655629 0.6969 0.9225 0.52 T 0.0 P -1.000 T 0.0 T 0.001 T Pathogenic 11_75153031_T->G 11 75153031 75153031 T G snp 167.77 0/1 99 16 9 7 0.44 intronic rs2276443 GDPD5 AU NM_030792 exon5 c.6297+183T>G 0.0690895 0.124 Uncertain 11_75154067_C->T 11 75154067 75154067 C T snp 1647.77 0/1 99 113 47 66 0.58 intronic rs532454 GDPD5 AU NM_030792 exon7 c.7629-113C>T 0.572684 0.7946 Uncertain 11_75160183_C->T 11 75160183 75160183 C T snp 581.77 0/1 99 63 37 26 0.41 intronic rs61897374 GDPD5 AU NM_030792 exon9 c.13616+16C>T 0.0579073 0.124 0.051988 0.0849 0.1654 Uncertain 11_75160213_G->A 11 75160213 75160213 G A snp 570.77 0/1 99 48 22 26 0.54 intronic rs473462 GDPD5 AU NM_030792 exon9 c.13616+46G>A 0.551917 0.8095 0.548213 0.5785 0.7951 Uncertain 11_75160575_G->A 11 75160575 75160575 G A snp 1592.77 0/1 99 138 68 70 0.51 exonic rs518611 GDPD5 AU synonymous SNV NM_030792 exon8 c.C555T p.R185R 0.534944 0.8095 0.517295 0.6361 0.8142 Uncertain 11_75166510_T->C 11 75166510 75166510 T C snp 684.77 0/1 99 49 22 27 0.55 intronic rs56010007 GDPD5 AU NM_030792 exon12 c.21250-1291T>C 0.0583067 0.125 Uncertain 11_75167704_T->C 11 75167704 75167704 T C snp 4365.77 1/1 99 162 0 162 1.0 intronic rs1793410 GDPD5 AU NM_030792 exon12 c.21250-97T>C 0.741414 0.9563 Uncertain 11_75167793_G->A 11 75167793 75167793 G A snp 1478.77 0/1 99 127 61 66 0.52 intronic rs12789498 GDPD5 AU NM_030792 exon12 c.21250-8G>A 0.0990415 0.1687 0.033652 0.0813 0.1593 Uncertain 11_75188569_C->T 11 75188569 75188569 C T snp 642.77 0/1 99 71 40 31 0.44 intronic rs1790149 GDPD5 AU NM_030792 exon15 c.42112-94C>T 0.599641 0.7996 Uncertain 11_75277628_A->G 11 75277628 75277628 A G snp 1688.77 1/1 99 51 0 51 1.0 exonic rs584961 SERPINH1 AR,AU synonymous SNV NM_001235 exon2 c.A234G p.L78L 0.889976 0.7282 0.913007 0.8995 0.7041 Uncertain 11_75277992_C->T 11 75277992 75277992 C T snp 2361.77 0/1 99 189 92 97 0.51 exonic rs651581 SERPINH1 AR,AU synonymous SNV NM_001235 exon2 c.C598T p.L200L 0.299321 0.2976 0.425703 0.4400 0.2724 Uncertain 11_75278040_-->TCC 11 75278040 75278040 - TCC indel 2310.73 0/1 99 115 41 74 0.64 intronic rs35462148 SERPINH1 AR,AU NM_001235 exon2 c.622+24insTCC 0.34984 0.3264 0.4054 0.2755 Uncertain 11_75378674_A->C 11 75378674 75378674 A C snp 261.77 0/1 99 22 11 11 0.5 exonic rs12225010 MAP6 AU nonsynonymous SNV NM_033063 exon1 c.T741G p.I247M 0.548922 0.5655 0.6667 . 0.7 T 0.0 P -0.935 T 0.0 T 0.0 T Pathogenic 11_75438448_C->T 11 75438448 75438448 C T snp 390.77 0/1 99 32 17 15 0.47 intronic rs753771958 MOGAT2 AU NM_025098 exon3 c.9546-31C>T 8.766e-06 0 Uncertain 11_75501852_A->G 11 75501852 75501852 A G snp 539.77 0/1 99 63 39 24 0.38 intronic rs2510635 DGAT2 AU NM_032564 exon4 c.21740+76A>G 0.993011 0.9712 Uncertain 11_75573047_T->C 11 75573047 75573047 T C snp 38.77 0/1 67 6 4 2 0.33 intronic rs188188865 UVRAG AU NM_003369 exon3 c.46373+222T>C 0.00179712 0.0089 Uncertain 11_75852448_C->T 11 75852448 75852448 C T snp 245.77 0/1 99 32 19 13 0.41 exonic rs636420 UVRAG AU synonymous SNV NM_003369 exon15 c.C2091T p.S697S 0.0958466 0.2698 0.047366 0.0876 0.3102 Uncertain 11_75902571_A->G 11 75902571 75902571 A G snp 1981.77 1/1 99 59 0 59 1.0 intronic rs2508779 WNT11 AU NM_004626 exon2 c.4499-36A>G 0.992412 0.999 0.994147 0.9906 0.9998 Uncertain 11_75917176_T->- 11 75917176 75917176 T - indel 225.73 0/1 99 16 8 8 0.5 intronic rs112594021 WNT11 AU NM_004626 exon5 c.19260-192delT 0.152756 0.3075 Uncertain 11_75917189_G->C 11 75917189 75917189 G C snp 323.77 0/1 99 22 10 12 0.55 intronic rs1717626 WNT11 AU NM_004626 exon5 c.19260-179G>C 0.48103 0.5407 Uncertain 11_75917334_T->C 11 75917334 75917334 T C snp 4254.77 1/1 99 168 0 168 1.0 intronic rs1879633 WNT11 AU NM_004626 exon5 c.19260-34T>C 0.826677 0.9792 0.752546 0.7985 0.9771 Uncertain 11_76115231_G->A 11 76115231 76115231 G A snp 461.77 0/1 99 29 10 19 0.66 UTR3 rs7113820 LOC100506127 AU 0.238618 0.2639 Uncertain 11_76183722_A->G 11 76183722 76183722 A G snp 2781.77 0/1 99 250 133 117 0.47 exonic rs117625538 C11orf30 AU nonsynonymous SNV NM_020193 exon8 c.A946G p.T316A 0.00239617 0.0119 0.0009 0.0125 0.3 T 0.999 D -0.973 T 0.049 T 0.028 T Pathogenic 11_76183924_A->G 11 76183924 76183924 A G snp 677.77 1/1 51 23 0 23 1.0 intronic rs4245443 C11orf30 AU NM_020193 exon8 c.25902+40A>G 0.583666 0.6944 0.521796 0.6142 0.7213 Uncertain 11_76207633_G->A 11 76207633 76207633 G A snp 1189.77 1/1 87 40 0 40 1.0 intronic rs10899226 C11orf30 AU NM_020193 exon9 c.49531+120G>A 0.886382 0.9385 0.9503 0.9476 Uncertain 11_76227182_G->A 11 76227182 76227182 G A snp 5062.77 1/1 99 190 0 190 1.0 splicing rs2508740 C11orf30 AU NM_020193 exon11 c.69203-3G>A 0.636182 0.8006 0.549908 0.6438 0.8210 Pathogenic 11_76234528_T->C 11 76234528 76234528 T C snp 52.74 1/1 6 2 0 2 1.0 intronic rs2513508 C11orf30 AU NM_020193 exon12 c.76353+193T>C 0.583466 0.6984 Uncertain 11_76250905_T->G 11 76250905 76250905 T G snp 294.78 1/1 24 8 0 8 1.0 intronic rs2508754 C11orf30 AU NM_020193 exon17 c.92702+221T>G 0.984824 1 Uncertain 11_76370792_A->G 11 76370792 76370792 A G snp 5289.77 1/1 99 199 0 199 1.0 exonic rs4304809 LRRC32 AU synonymous SNV NM_001128922 exon3 c.T1845C p.P615P 1 1 1 1 Uncertain 11_76406487_C->T 11 76406487 76406487 C T snp 2440.77 0/1 99 217 105 112 0.52 ncRNA_exonic rs150846749 GUCY2EP AU 0.000199681 0.001 Uncertain 11_76423664_C->A 11 76423664 76423664 C A snp 147.77 0/1 63 8 2 6 0.75 ncRNA_intronic rs11236891 GUCY2EP AU 0.0914537 0.1071 Uncertain 11_76423840_T->C 11 76423840 76423840 T C snp 421.77 0/1 99 34 16 18 0.53 ncRNA_intronic rs12294685 GUCY2EP AU 0.0878594 0.1101 Uncertain 11_76423897_C->T 11 76423897 76423897 C T snp 294.77 0/1 99 24 13 11 0.46 ncRNA_intronic rs73501507 GUCY2EP AU 0.100639 0.1062 Uncertain 11_76427674_G->C 11 76427674 76427674 G C snp 2422.77 0/1 99 191 92 99 0.52 ncRNA_exonic rs10899265 GUCY2EP AU 0.163339 0.119 0.0860 0.1839 Uncertain 11_76427731_T->C 11 76427731 76427731 T C snp 7366.77 1/1 99 250 0 250 1.0 ncRNA_intronic rs10751261 GUCY2EP AU 0.875998 0.7381 0.8888 0.8458 Uncertain 11_76427823_T->C 11 76427823 76427823 T C snp 3020.77 0/1 99 248 127 121 0.49 ncRNA_exonic rs11236900 GUCY2EP AU 0.163339 0.119 0.0758 0.1511 Uncertain 11_76428055_A->G 11 76428055 76428055 A G snp 179.77 0/1 99 17 10 7 0.41 ncRNA_intronic rs4944119 GUCY2EP AU 0.710264 0.619 Uncertain 11_76429160_T->A 11 76429160 76429160 T A snp 56.77 0/1 85 13 10 3 0.23 ncRNA_intronic rs10899266 GUCY2EP AU 0.716054 0.6181 Uncertain 11_76430480_A->G 11 76430480 76430480 A G snp 93.28 1/1 9 3 0 3 1.0 ncRNA_intronic rs7107461 GUCY2EP AU 0.907348 0.752 Uncertain 11_76430527_G->A 11 76430527 76430527 G A snp 217.77 0/1 99 22 11 11 0.5 ncRNA_intronic rs144219350 GUCY2EP AU 0.118011 0.121 Uncertain 11_76430529_C->G 11 76430529 76430529 C G snp 735.77 1/1 57 24 0 24 1.0 ncRNA_intronic rs7122287 GUCY2EP AU 0.869609 0.7163 1 . Uncertain 11_76430536_G->A 11 76430536 76430536 G A snp 321.77 0/1 99 31 16 15 0.48 ncRNA_splicing rs550348274 GUCY2EP AU Uncertain 11_76430546_C->G 11 76430546 76430546 C G snp 329.77 0/1 99 35 19 16 0.46 ncRNA_exonic rs147495303 GUCY2EP AU Uncertain 11_76430585_C->T 11 76430585 76430585 C T snp 515.77 0/1 99 56 31 25 0.45 ncRNA_exonic rs112757636 GUCY2EP AU 0.0964 0.0746 Uncertain 11_76430597_A->G 11 76430597 76430597 A G snp 673.77 0/1 99 64 33 31 0.48 ncRNA_exonic rs11236902 GUCY2EP AU 0.138379 0.119 0.1125 0.0915 Uncertain 11_76506572_T->A 11 76506572 76506572 T A snp 944.77 0/1 99 52 16 36 0.69 intronic rs1149620 TSKU AU 0.533546 0.5933 Uncertain 11_76507692_T->A 11 76507692 76507692 T A snp 1182.77 1/1 84 45 0 45 1.0 exonic rs1149621 TSKU AU nonsynonymous SNV NM_001258210 exon2 c.T1032A p.D344E 0.82508 0.8492 0.835785 0.8018 0.8553 1 T 0.0 P -0.987 T 0.0 T 0.0 T Pathogenic 11_76579420_TCTCTCTC->- 11 76579420 76579427 TCTCTCTC - indel 631.77 1/1 21 11 0 11 1.0 intronic rs751868659 ACER3 AU NM_001300953 exon1 c.103+7297_103+7304delTCTCTCTC Uncertain 11_76637651_G->A 11 76637651 76637651 G A snp 5716.77 1/1 99 211 0 211 1.0 exonic rs4379869 ACER3 AU nonsynonymous SNV NM_018367 exon2 c.G154A p.V52I 0.629593 0.5903 0.704945 0.6785 0.6317 0.48 T 1.000 P -0.997 T 0.0 T 0.0 T Pathogenic 11_76637680_G->A 11 76637680 76637680 G A snp 5355.77 1/1 99 211 0 211 1.0 exonic rs4479014 ACER3 AU synonymous SNV NM_018367 exon2 c.G183A p.K61K 0.503794 0.5903 0.582717 0.6425 0.6317 Uncertain 11_76637730_C->G 11 76637730 76637730 C G snp 4472.77 1/1 99 164 0 164 1.0 intronic rs4604914 ACER3 AU NM_018367 exon2 c.65691+19C>G 0.498602 0.5903 0.578327 0.6412 0.6320 Uncertain 11_76637785_G->A 11 76637785 76637785 G A snp 2265.77 1/1 99 68 0 68 1.0 intronic rs4457775 ACER3 AU NM_018367 exon2 c.65691+74G>A 0.503594 0.5903 Uncertain 11_76668478_C->T 11 76668478 76668478 C T snp 554.77 1/1 42 20 0 20 1.0 intronic rs4945125 ACER3 AU NM_001300953 exon2 c.98002-1544C>T 0.503794 0.5923 0.6634 0.6136 Uncertain 11_76687399_A->C 11 76687399 76687399 A C snp 904.77 1/1 66 32 0 32 1.0 intronic rs1517909 ACER3 AU NM_001300953 exon3 c.115365+14A>C 0.664537 0.6349 0.728855 0.7304 0.6852 Uncertain 11_76687448_A->C 11 76687448 76687448 A C snp 348.78 1/1 27 11 0 11 1.0 intronic rs1517908 ACER3 AU NM_001300953 exon3 c.115365+63A>C 0.664137 0.6349 0.726274 Uncertain 11_76701365_G->T 11 76701365 76701365 G T snp 1191.77 1/1 87 33 0 33 1.0 intronic rs3824889 ACER3 AU NM_001300953 exon5 c.129562-217G>T 0.663738 0.6349 Uncertain 11_76701606_G->A 11 76701606 76701606 G A snp 2343.77 1/1 99 79 0 79 1.0 exonic rs3740767 ACER3 AU synonymous SNV NM_001300953 exon5 c.G315A p.P105P 0.532947 0.6349 0.599276 0.6798 0.6729 Uncertain 11_76709795_G->A 11 76709795 76709795 G A snp 1612.77 1/1 99 61 0 61 1.0 intronic ACER3 AU NM_001300953 exon6 c.137786-11G>A 0.146166 0.3552 0.095297 0.1307 0.3657 Uncertain 11_76731116_G->T 11 76731116 76731116 G T snp 96.28 1/1 9 3 0 3 1.0 intronic ACER3 AU NM_001300953 exon10 c.159297-201G>T 0.664537 0.6349 Uncertain 11_76751542_T->- 11 76751542 76751542 T - indel 9586.73 1/1 99 230 0 230 1.0 splicing rs11292198 B3GNT6 AU NM_138706 exon3 c.947delT 1 1 0.9999 1 ID=COSM1561974;OCCURENCE=2(large_intestine) Pathogenic 11_76751585_T->- 11 76751585 76751585 T - indel 10827.7 1/1 99 249 0 249 1.0 exonic rs11292199 B3GNT6 AU unknown 1 1 0.999103 0.9986 1 ID=COSM1357066;OCCURENCE=2(large_intestine) Uncertain 11_76751587_G->A 11 76751587 76751587 G A snp 2436.77 0/1 99 246 141 105 0.43 exonic rs34153015 B3GNT6 AU unknown 0.255791 0.2143 0.5759 0.5893 0.01 T 1 D -0.113 T Uncertain 11_76751604_T->- 11 76751604 76751604 T - indel 10435.7 1/1 99 248 0 248 1.0 splicing rs11292200 B3GNT6 AU NM_138706 exon4 c.1009delT 1 1 0.999917 0.9998 1 ID=COSM1357067;OCCURENCE=1(upper_aerodigestive_tract),6(large_intestine) Pathogenic 11_76795839_A->G 11 76795839 76795839 A G snp 1267.77 0/1 99 130 76 54 0.42 intronic CAPN5 AD 0.414736 0.5317 Uncertain 11_76799004_T->C 11 76799004 76799004 T C snp 3512.77 1/1 99 120 0 120 1.0 intronic CAPN5 AD NM_004055 exon2 c.165+2907T>C 0.896965 0.8571 0.8912 0.905 0.32 T 0.0 P -0.994 T 0.0 T 0.0 T Uncertain 11_76799118_T->C 11 76799118 76799118 T C snp 329.77 0/1 99 36 23 13 0.36 intronic CAPN5 AD NM_004055 exon2 c.165+3021T>C Uncertain 11_76814110_G->A 11 76814110 76814110 G A snp 3197.84 0/1 99 250 124 126 0.5 exonic OMP AU synonymous SNV NM_006189 exon1 c.G225A p.P75P 0.239417 0.2321 0.191181 0.2206 0.2281 Uncertain 11_76814516_A->G 11 76814516 76814516 A G snp 110.8 0/1 21 5 1 4 0.8 intronic CAPN5 AD NM_004055 exon4 c.27702-9118A>G 0.137979 0.1081 Uncertain 11_76827223_G->C 11 76827223 76827223 G C snp 889.77 0/1 99 98 56 42 0.43 intronic CAPN5 AD NM_004055 exon7 c.31339-48G>C 0.375399 0.4177 0.344180 0.3220 0.4080 Uncertain 11_76827360_A->G 11 76827360 76827360 A G snp 807.77 0/1 99 61 26 35 0.57 intronic CAPN5 AD NM_004055 exon7 c.31417+11A>G 0.355431 0.4167 0.318238 0.3137 0.4347 Uncertain 11_76868372_T->C 11 76868372 76868372 T C snp 788.77 0/1 99 76 38 38 0.5 exonic rs762667 MYO7A AR,AD synonymous SNV NM_000260 exon8 c.T783C p.G261G 0.474042 0.3383 0.475590 0.4065 0.3476 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_multiple_submitters\x2c_no_conflicts;CLNACC=RCV000036250.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 11_76870634_T->C 11 76870634 76870634 T C snp 3075.77 0/1 99 241 106 135 0.56 intronic MYO7A AR,AD NM_001127179 exon10 c.28889+65T>C 0.438698 0.4484 Uncertain 11_76884122_A->T 11 76884122 76884122 A T snp 149.77 0/1 61 7 2 5 0.71 intronic MYO7A AR,AD NM_001127179 exon16 c.42251+191A>T 0.535144 0.4544 Uncertain 11_76885779_G->A 11 76885779 76885779 G A snp 673.77 0/1 99 56 28 28 0.5 intronic MYO7A AR,AD NM_001127179 exon17 c.44121-22G>A 0.485623 0.4405 0.528028 0.5432 0.5468 Uncertain 11_76893280_-->G 11 76893280 76893280 - G indel 980.73 1/1 72 26 0 26 1.0 intronic MYO7A AR,AD NM_001127179 exon24 c.51520+80insG 1 1 Uncertain 11_76893700_G->A 11 76893700 76893700 G A snp 499.77 0/1 99 30 10 20 0.67 intronic MYO7A AR,AD NM_001127179 exon25 c.51965+55G>A 0.00159744 0.0069 Uncertain 11_76895771_GGAGGCGGGGACACCAGGGCCT->- 11 76895771 76895792 GGAGGCGGGGACACCAGGGCCT - indel 11686.7 0/1 99 126 66 60 0.48 exonic rs111033223 MYO7A AR,AD frameshift deletion NM_001127179 exon27 c.3514_3535del p.G1172fs 0.40595 0.3194 0.383356 0.3097 0.2089 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000036111.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 11_76900267_G->A 11 76900267 76900267 G A snp 139.03 1/1 12 5 0 5 1.0 intronic MYO7A AR,AD NM_000260 exon28 c.58708-121G>A 0.577875 0.4325 Uncertain 11_76901273_C->T 11 76901273 76901273 C T snp 73.77 0/1 99 13 8 5 0.38 intronic rs2276286 MYO7A AR,AD NM_000260 exon29 c.59504+89C>T 0.579872 0.4425 Uncertain 11_76901648_C->G 11 76901648 76901648 C G snp 575.77 0/1 99 45 24 21 0.47 intronic rs7947922 MYO7A AR,AD NM_000260 exon30 c.60061-93C>G 0.575679 0.4464 Uncertain 11_76901927_C->T 11 76901927 76901927 C T snp 1912.77 0/1 99 136 56 80 0.59 intronic rs2276285 MYO7A AR,AD NM_000260 exon30 c.60235+12C>T 0.46845 0.4474 0.485534 0.5376 0.5450 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000036130.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 11_76902024_G->A 11 76902024 76902024 G A snp 227.77 0/1 99 13 5 8 0.62 intronic rs4944148 MYO7A AR,AD NM_000260 exon30 c.60235+109G>A 0.576078 0.4484 Uncertain 11_76904945_A->G 11 76904945 76904945 A G snp 376.77 0/1 99 21 9 12 0.57 intronic rs10899359 MYO7A AR,AD NM_000260 exon32 c.63718-453A>G 0.546326 0.4554 Uncertain 11_76905604_G->T 11 76905604 76905604 G T snp 1036.77 0/1 99 89 42 47 0.53 intronic rs1109977 MYO7A AR,AD NM_000260 exon32 c.63889+35G>T 0.545327 0.4494 0.581571 0.5645 0.4984 Uncertain 11_76905725_C->T 11 76905725 76905725 C T snp 120.77 0/1 64 7 2 5 0.71 intronic rs948958 MYO7A AR,AD NM_000260 exon32 c.63889+156C>T 0.545527 0.4494 Uncertain 11_76910766_C->T 11 76910766 76910766 C T snp 1789.77 0/1 99 133 57 76 0.57 exonic rs7927472 MYO7A AR,AD synonymous SNV NM_000260 exon35 c.C4755T p.S1585S 0.432508 0.4494 0.457317 0.5083 0.4929 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_multiple_submitters\x2c_no_conflicts;CLNACC=RCV000036162.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 11_76910816_G->A 11 76910816 76910816 G A snp 1630.77 0/1 99 110 46 64 0.58 exonic rs139889944 MYO7A AR,AD nonsynonymous SNV NM_000260 exon35 c.G4805A p.R1602Q 0.0117812 0.0585 0.000164 0.0034 0.0444 0.1 T 1.000 D -0.329 T 0.99 D 0.656 D CLINSIG=probable-non-pathogenic|probable-non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter|no_assertion_criteria_provided;CLNACC=RCV000036165.2|RCV000132572.1;CLNDSDB=MedGen|MedGen;CLNDSDBID=CN169374|CN221809 ID=CM981339;DIS=Usher syndrome, atypical;TAG=DM?;PUB=9718356 DM? Pathogenic 11_76912636_A->T 11 76912636 76912636 A T snp 1107.77 0/1 99 113 67 46 0.41 exonic rs2276288 MYO7A AR,AD nonsynonymous SNV NM_000260 exon36 c.A4996T p.S1666C 0.551717 0.4524 0.589112 0.5440 0.4930 1 T 0.004 P -0.953 T 0.0 T 0.0 T CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_multiple_submitters\x2c_no_conflicts;CLNACC=RCV000036174.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 ID=CM097878;DIS=Malignant melanoma, association with;TAG=DP;PUB=19320733 DP Pathogenic 11_76914948_A->G 11 76914948 76914948 A G snp 190.77 0/1 99 10 4 6 0.6 intronic rs2276294 MYO7A AR,AD NM_000260 exon39 c.73440-172A>G 0.555112 0.4534 Uncertain 11_76916424_A->G 11 76916424 76916424 A G snp 341.77 0/1 99 26 15 11 0.42 intronic rs11237121 MYO7A AR,AD NM_000260 exon40 c.74826-82A>G 0.541933 0.4573 Uncertain 11_76917220_A->G 11 76917220 76917220 A G snp 3178.77 0/1 99 250 124 126 0.5 exonic rs2276293 MYO7A AR,AD synonymous SNV NM_000260 exon41 c.A5715G p.K1905K 0.554912 0.4683 0.553728 0.5232 0.5229 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000036201.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 11_76918322_T->C 11 76918322 76918322 T C snp 611.77 0/1 99 56 29 27 0.48 intronic rs2276291 MYO7A AR,AD NM_000260 exon42 c.76653-11T>C 0.59345 0.4653 0.632945 0.6330 0.5862 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000036202.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 11_76918497_G->A 11 76918497 76918497 G A snp 1358.77 0/1 99 84 31 53 0.63 intronic rs2276290 MYO7A AR,AD NM_000260 exon42 c.76767+50G>A 0.512979 0.4643 0.574569 0.5391 0.5006 Uncertain 11_76919468_A->T 11 76919468 76919468 A T snp 920.77 0/1 99 93 50 43 0.46 intronic rs1320703 MYO7A AR,AD NM_000260 exon43 c.77794-6A>T 0.512979 0.4653 0.559647 0.5675 0.5211 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_multiple_submitters\x2c_no_conflicts;CLNACC=RCV000036208.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 11_76919478_C->A 11 76919478 76919478 C A snp 930.77 0/1 99 98 52 46 0.47 exonic rs948962 MYO7A AR,AD nonsynonymous SNV NM_000260 exon43 c.C5860A p.L1954I 0.499002 0.3343 0.549212 0.4776 0.3645 1 T 0.017 P -0.945 T 0.0 T 0.001 T CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_multiple_submitters\x2c_no_conflicts;CLNACC=RCV000036209.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 11_76919619_G->A 11 76919619 76919619 G A snp 738.77 0/1 99 55 26 29 0.53 intronic rs948961 MYO7A AR,AD NM_000260 exon43 c.77882+57G>A 0.585863 0.4653 0.630092 Uncertain 11_76919629_C->T 11 76919629 76919629 C T snp 730.77 0/1 99 53 27 26 0.49 intronic rs948960 MYO7A AR,AD NM_000260 exon43 c.77882+67C>T 0.508586 0.4653 Uncertain 11_76919865_T->A 11 76919865 76919865 T A snp 2680.77 0/1 99 233 108 125 0.54 intronic rs1320702 MYO7A AR,AD NM_000260 exon44 c.78168+17T>A 0.512979 0.4653 0.564792 0.5445 0.5 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000036220.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 11_76920003_T->C 11 76920003 76920003 T C snp 459.77 0/1 99 41 23 18 0.44 intronic rs11237122 MYO7A AR,AD NM_000260 exon44 c.78168+155T>C 0.513179 0.4653 Uncertain 11_76920038_T->G 11 76920038 76920038 T G snp 140.77 0/1 99 13 7 6 0.46 intronic rs885442 MYO7A AR,AD NM_000260 exon44 c.78168+190T>G 0.41234 0.4653 Uncertain 11_76922946_G->A 11 76922946 76922946 G A snp 2363.77 0/1 99 193 99 94 0.49 exonic rs11237123 MYO7A AR,AD synonymous SNV NM_000260 exon46 c.G6318A p.K2106K 0.195687 0.0635 0.246833 0.1806 0.0657 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000036229.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 11_76923017_G->A 11 76923017 76923017 G A snp 2652.77 0/1 99 205 88 117 0.57 intronic rs3819170 MYO7A AR,AD NM_000260 exon46 c.81302+35G>A 0.198482 0.0635 0.244832 0.2316 0.0940 0.0 P -1.012 T Uncertain 11_76923352_A->G 11 76923352 76923352 A G snp 838.77 0/1 99 57 22 35 0.61 intronic rs12418037 MYO7A AR,AD NM_000260 exon46 c.81302+370A>G 0.547923 0.505 0.5873 0.5263 Uncertain 11_76924130_A->T 11 76924130 76924130 A T snp 994.77 1/1 75 33 0 33 1.0 intronic rs2276289 MYO7A AR,AD NM_000260 exon47 c.82400+50A>T 0.807708 0.7569 0.872564 0.9045 0.7751 Uncertain 11_76925040_G->A 11 76925040 76925040 G A snp 1681.77 0/1 99 143 72 71 0.5 intronic rs883224 MYO7A AR,AD NM_000260 exon48 c.83344+16G>A 0.111022 0.0655 0.188367 0.2000 0.0650 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000036238.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 11_76925075_G->T 11 76925075 76925075 G T snp 2729.77 1/1 99 92 0 92 1.0 intronic rs948959 MYO7A AR,AD NM_000260 exon48 c.83344+51G>T 0.871406 0.7817 0.929779 Uncertain 11_76928025_A->G 11 76928025 76928025 A G snp 850.77 0/1 99 75 39 36 0.48 UTR3 rs12363944 GDPD4 AU 0.112819 0.0665 0.1816 0.0982 0.64 T 0.0 P -0.973 T Uncertain 11_76928149_A->G 11 76928149 76928149 A G snp 3014.77 1/1 99 108 0 108 1.0 UTR3 rs2282576 GDPD4 AU 0.79393 0.7788 0.8980 0.8067 Uncertain 11_76944015_G->A 11 76944015 76944015 G A snp 666.77 0/1 99 60 30 30 0.5 intronic rs4945161 GDPD4 AU NM_182833 exon4 c.15748-54G>A 0.623802 0.6925 Uncertain 11_76954788_-->A 11 76954788 76954788 - A indel 1234.73 0/1 99 86 49 37 0.43 exonic rs34784710 GDPD4 AU frameshift insertion NM_182833 exon12 c.1191dupT p.I398fs 0.253994 0.256 0.270927 0.3110 0.2351 Pathogenic 11_76954812_T->C 11 76954812 76954812 T C snp 1095.77 0/1 99 111 65 46 0.41 exonic rs11237145 GDPD4 AU nonsynonymous SNV NM_182833 exon12 c.A1168G p.I390V 0.254393 0.256 0.272720 0.3110 0.2351 0.92 T 0.0 P -0.989 T 0.001 T 0.001 T Pathogenic 11_76954833_G->A 11 76954833 76954833 G A snp 1116.77 0/1 99 113 67 46 0.41 exonic rs11237146 GDPD4 AU nonsynonymous SNV NM_182833 exon12 c.C1147T p.H383Y 0.242212 0.256 0.254005 0.2981 0.2347 0.2 T 0.133 P -0.874 T 0.952 T 0.536 D Pathogenic 11_76954898_A->G 11 76954898 76954898 A G snp 1643.77 0/1 99 115 42 73 0.63 splicing rs7104577 GDPD4 AU NM_182833 exon5 c.26572+5A>G 0.408746 0.38 0.440234 0.4687 0.4063 Pathogenic 11_76979465_A->C 11 76979465 76979465 A C snp 1833.77 0/1 99 151 67 84 0.56 intronic rs1618188 GDPD4 AU NM_182833 exon8 c.51180-36A>C 0.748602 0.745 0.736984 0.6944 0.7667 Uncertain 11_76979889_T->C 11 76979889 76979889 T C snp 75.77 0/1 30 4 1 3 0.75 intronic rs1621624 GDPD4 AU NM_182833 exon9 c.51647-79T>C 0.752796 0.745 Uncertain 11_76979900_C->G 11 76979900 76979900 C G snp 83.77 0/1 69 5 2 3 0.6 intronic rs1613357 GDPD4 AU NM_182833 exon9 c.51647-68C>G 0.752596 0.745 Uncertain 11_76980743_T->C 11 76980743 76980743 T C snp 383.77 0/1 99 47 28 19 0.4 intronic rs1620915 GDPD4 AU NM_182833 exon10 c.52606-184T>C 0.752796 0.745 Uncertain 11_77051683_G->C 11 77051683 77051683 G C snp 639.77 0/1 99 58 35 23 0.4 intronic rs2725832 PAK1 AU NM_001128620 exon6 c.17347-7G>C 0.244209 0.244 0.247612 0.2966 0.2165 Uncertain 11_77051820_C->T 11 77051820 77051820 C T snp 1497.77 0/1 99 149 83 66 0.44 intronic rs51500 PAK1 AU NM_001128620 exon6 c.17465+12C>T 0.152556 0.0635 0.252619 0.2346 0.0633 Uncertain 11_77069746_A->G 11 77069746 77069746 A G snp 85.77 0/1 69 6 2 4 0.67 intronic rs2250647 PAK1 AU NM_001128620 exon11 c.35599-196A>G 0.288538 0.256 Uncertain 11_77069790_G->A 11 77069790 77069790 G A snp 222.77 0/1 99 18 9 9 0.5 intronic rs2250639 PAK1 AU NM_001128620 exon11 c.35599-152G>A 0.288339 0.256 Uncertain 11_77090211_T->C 11 77090211 77090211 T C snp 1401.77 1/1 99 48 0 48 1.0 intronic rs562939 PAK1 AU NM_001128620 exon13 c.55942-74T>C 0.67512 0.5744 Uncertain 11_77090518_T->C 11 77090518 77090518 T C snp 92.77 0/1 99 14 10 4 0.29 intronic rs2298793 PAK1 AU NM_001128620 exon13 c.56090+85T>C 0.246006 0.254 Uncertain 11_77335982_C->A 11 77335982 77335982 C A snp 1951.77 1/1 99 65 0 65 1.0 intronic rs2013296 CLNS1A AU NM_001293 exon4 c.5335-25C>A 0.743011 0.745 0.769717 0.7248 0.7581 Uncertain 11_77531810_T->G 11 77531810 77531810 T G snp 968.77 1/1 69 34 0 34 1.0 UTR5 rs10751277 RSF1 AU 1 1 1 1 Uncertain 11_77531890_C->T 11 77531890 77531890 C T snp 50.74 1/1 6 2 0 2 1.0 upstream rs11820337 AAMDC AU 0.340655 0.4643 Uncertain 11_77552534_A->G 11 77552534 77552534 A G snp 220.84 1/1 18 6 0 6 1.0 intronic rs7117813 AAMDC AU 0.266773 0.4127 Uncertain 11_77587973_T->C 11 77587973 77587973 T C snp 2174.77 1/1 99 80 0 80 1.0 intergenic rs616354 AAMDC AU 0.342053 0.4683 0.2726 0.4653 Uncertain 11_77605501_T->C 11 77605501 77605501 T C snp 564.77 1/1 42 18 0 18 1.0 intronic rs1793336 INTS4 AU NM_033547 exon5 c.15401+106T>C 0.724441 0.7331 Uncertain 11_77614770_T->G 11 77614770 77614770 T G snp 1351.77 0/1 99 104 51 53 0.51 intronic rs2276349 INTS4 AU NM_033547 exon7 c.24672+104T>G 0.355831 0.3214 Uncertain 11_77629132_-->T 11 77629132 77629132 - T indel 1575.73 1/1 99 38 0 38 1.0 intronic rs397702235 INTS4 AU NM_033547 exon9 c.39872-734insT 0.729633 0.7331 0.6114 0.7374 Uncertain 11_77671281_A->G 11 77671281 77671281 A G snp 796.77 0/1 99 63 29 34 0.54 intronic rs12796422 INTS4 AU NM_033547 exon18 c.81392-105A>G 0.346645 0.3224 Uncertain 11_77672207_G->A 11 77672207 77672207 G A snp 82.77 0/1 93 9 5 4 0.44 intronic rs570195912 INTS4 AU NM_033547 exon19 c.82190+23G>A 0.118411 0.0833 0.0002 0 Uncertain 11_77672215_G->A 11 77672215 77672215 G A snp 96.77 0/1 51 8 4 4 0.5 intronic rs201995263 INTS4 AU NM_033547 exon19 c.82190+31G>A 0.0728834 0.0486 7.331e-05 0 Uncertain 11_77672221_G->A 11 77672221 77672221 G A snp 55.77 0/1 30 7 4 3 0.43 intronic rs773953510 INTS4 AU NM_033547 exon19 c.82190+37G>A 2.689e-05 0 Uncertain 11_77692785_T->A 11 77692785 77692785 T A snp 103.77 0/1 99 12 7 5 0.42 intronic rs4945227 INTS4 AU NM_033547 exon21 c.102628+163T>A Uncertain 11_77698524_C->T 11 77698524 77698524 C T snp 1423.77 1/1 99 50 0 50 1.0 intronic rs7938133 INTS4 AU NM_033547 exon22 c.112159-3629C>T 0.715056 0.7351 Uncertain 11_77698651_T->C 11 77698651 77698651 T C snp 4334.77 1/1 99 181 0 181 1.0 intronic rs6592756 INTS4 AU NM_033547 exon22 c.112159-3502T>C 0.73103 0.7361 0.5913 0.7273 Uncertain 11_77702033_T->A 11 77702033 77702033 T A snp 444.77 1/1 36 12 0 12 1.0 intronic rs2276441 INTS4 AU NM_033547 exon22 c.112159-120T>A 0.714257 0.7321 Uncertain 11_77705536_C->A 11 77705536 77705536 C A snp 1753.77 0/1 99 127 57 70 0.55 intronic rs2016147 INTS4 AU NM_033547 exon23 c.115641-99C>A 0.183906 0.244 Uncertain 11_77728364_C->T 11 77728364 77728364 C T snp 549.77 0/1 99 54 32 22 0.41 intronic rs72943029 KCTD14 AU NM_023930 exon1 c.678+48C>T 0.0107827 0.0446 0.002859 0.0072 0.0457 Uncertain 11_77734209_T->C 11 77734209 77734209 T C snp 2755.77 1/1 99 104 0 104 1.0 exonic rs11237362 KCTD14 AU synonymous SNV NM_023930 exon1 c.A87G p.P29P 0.689696 0.5694 0.747530 0.7685 0.5616 Uncertain 11_77734371_G->A 11 77734371 77734371 G A snp 258.77 0/1 99 16 8 8 0.5 intronic rs12420553 KCTD14 AU NM_023930 exon2 c.6682+51G>A 0.171126 0.1756 Uncertain 11_77749617_G->A 11 77749617 77749617 G A snp 119.78 0/1 27 5 1 4 0.8 intronic rs10793277 KCTD14 AU NM_001282406 exon2 c.22071-92G>A 0.353435 0.3373 Uncertain 11_77775466_C->G 11 77775466 77775466 C G snp 89.77 0/1 99 15 11 4 0.27 intronic rs545869 NDUFC2-KCTD14 AU NM_001203260 exon3 c.34334-8577C>G 0.60024 0.4425 Uncertain 11_77790653_T->C 11 77790653 77790653 T C snp 605.77 0/1 99 49 27 22 0.45 exonic rs534418 NDUFC2 AU synonymous SNV NM_001203260 exon1 c.A138G p.L46L 0.842053 0.7192 0.875039 0.8463 0.7451 Uncertain 11_77790863_C->G 11 77790863 77790863 C G snp 2247.77 0/1 99 203 100 103 0.51 UTR5 rs499799 NDUFC2 AU 0.823482 0.7192 Uncertain 11_77811990_T->C 11 77811990 77811990 T C snp 2426.77 1/1 99 84 0 84 1.0 UTR3 rs1263505 ALG8 AU 0.832668 0.7351 0.880391 0.8319 0.7542 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000082154.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 11_77820670_T->C 11 77820670 77820670 T C snp 326.77 0/1 99 29 17 12 0.41 intronic rs1783515 ALG8 AU NM_024079 exon5 c.8618+43T>C 0.258586 0.2808 0.228743 0.1953 0.3170 Uncertain 11_77820673_T->C 11 77820673 77820673 T C snp 325.77 0/1 99 27 16 11 0.41 intronic rs1789032 ALG8 AU NM_024079 exon5 c.8618+46T>C 0.258387 0.2798 0.228974 0.1947 0.3152 Uncertain 11_77823557_G->A 11 77823557 77823557 G A snp 388.77 0/1 99 27 11 16 0.59 intronic rs624350 ALG8 AU NM_024079 exon6 c.11686-138G>A 0.554113 0.4315 Uncertain 11_77825064_A->G 11 77825064 77825064 A G snp 1933.77 0/1 99 178 83 95 0.53 intronic rs572693 ALG8 AU NM_024079 exon7 c.13026+29A>G 0.258786 0.2798 0.224364 0.2254 0.3431 Uncertain 11_77825275_A->G 11 77825275 77825275 A G snp 1663.77 0/1 99 141 71 70 0.5 intronic rs10899440 ALG8 AU NM_024079 exon8 c.13302-36A>G 0.336661 0.3611 0.372766 0.4206 0.3514 Uncertain 11_77825508_A->G 11 77825508 77825508 A G snp 247.77 0/1 99 14 5 9 0.64 intronic rs678277 ALG8 AU NM_024079 exon8 c.13429+70A>G 0.258786 0.2798 Uncertain 11_77825642_A->G 11 77825642 77825642 A G snp 535.77 1/1 39 19 0 19 1.0 intronic rs653721 ALG8 AU NM_024079 exon8 c.13429+204A>G 0.670527 0.6409 Uncertain 11_77825697_C->T 11 77825697 77825697 C T snp 231.77 0/1 99 40 29 11 0.28 intronic rs653368 ALG8 AU NM_024079 exon8 c.13429+259C>T 0.258786 0.2798 Uncertain 11_77832076_T->A 11 77832076 77832076 T A snp 1152.77 1/1 84 37 0 37 1.0 intronic rs518624 ALG8 AU NM_024079 exon10 c.20101-34T>A 1 1 0.999923 1.0000 1 Uncertain 11_77834994_G->A 11 77834994 77834994 G A snp 618.77 0/1 99 41 19 22 0.54 intronic rs498278 ALG8 AU NM_024079 exon11 c.23057-72G>A 0.258786 0.2798 Uncertain 11_77838374_A->- 11 77838374 77838374 A - indel 873.73 1/1 93 32 0 32 1.0 intronic rs542317208 ALG8 AU NM_024079 exon12 c.26394-29delA 0.676518 0.6558 0.6549 0.6657 Uncertain 11_77850517_C->A 11 77850517 77850517 C A snp 3131.77 0/1 99 249 124 125 0.5 intronic rs10793289 ALG8 AU NM_024079 exon13 c.38530-22C>A 0.34405 0.377 0.367468 0.4201 0.3989 Uncertain 11_77884782_C->T 11 77884782 77884782 C T snp 1141.77 0/1 99 100 52 48 0.48 ncRNA_exonic rs230661 KCTD21-AS1 AU 0.589457 0.5 0.616143 0.5438 0.4717 Uncertain 11_77909014_G->A 11 77909014 77909014 G A snp 2285.77 0/1 99 198 104 94 0.47 exonic rs2510044 USP35 AU nonsynonymous SNV NM_020798 exon3 c.G706A p.V236M 0.204073 0.3591 0.104738 0.1909 0.3272 0.01 T 1.0 P -1.009 T 0.999 D 0.862 D Pathogenic 11_77919768_G->A 11 77919768 77919768 G A snp 180.9 1/1 15 5 0 5 1.0 intronic rs2256187 USP35 AU NM_020798 exon9 c.12611-134G>A 0.224641 0.3978 Uncertain 11_77920457_G->A 11 77920457 77920457 G A snp 456.77 0/1 99 39 23 16 0.41 intronic rs2256051 USP35 AU NM_020798 exon10 c.13202-36G>A 0.336462 0.3968 0.236872 0.2878 0.4243 Uncertain 11_77920563_G->T 11 77920563 77920563 G T snp 2310.77 0/1 99 182 92 90 0.49 exonic rs2510045 USP35 AU synonymous SNV NM_020798 exon10 c.G1662T p.P554P 0.26278 0.3968 0.161052 0.2193 0.3737 Uncertain 11_77920863_C->A 11 77920863 77920863 C A snp 1558.77 0/1 99 160 89 71 0.44 exonic rs2512527 USP35 AU synonymous SNV NM_020798 exon10 c.C1962A p.P654P 0.217652 0.4028 0.106721 0.2024 0.3874 Uncertain 11_77920930_A->G 11 77920930 77920930 A G snp 940.77 0/1 99 75 37 38 0.51 exonic rs2511188 USP35 AU nonsynonymous SNV NM_020798 exon10 c.A2029G p.I677V 0.35004 0.4087 0.263517 0.2923 0.4106 0.59 T 0.0 P -0.917 T 0.0 T 0.0 T Pathogenic 11_77921527_G->C 11 77921527 77921527 G C snp 7655.77 1/1 99 250 0 250 1.0 exonic rs2512526 USP35 AU nonsynonymous SNV NM_020798 exon10 c.G2626C p.A876P 0.849042 0.6558 0.969590 0.8926 0.6470 1 T 0.0 P -0.981 T 0.007 T 0.012 T Pathogenic 11_77924544_G->A 11 77924544 77924544 G A snp 312.77 0/1 99 14 4 10 0.71 intronic rs2450139 USP35 AU NM_020798 exon11 c.17400-147G>A 0.356829 0.3948 Uncertain 11_77924607_A->C 11 77924607 77924607 A C snp 741.77 0/1 99 60 26 34 0.57 intronic rs901105 USP35 AU NM_020798 exon11 c.17400-84A>C 0.230631 0.3948 Uncertain 11_77924657_TCTAAG->- 11 77924657 77924662 TCTAAG - indel 3549.73 0/1 99 88 39 49 0.56 intronic rs55765495 USP35 AU NM_020798 exon11 c.17400-34_17400-29delTCTAAG 0.259585 0.3958 0.150094 0.2178 0.3660 Uncertain 11_77924870_C->T 11 77924870 77924870 C T snp 671.77 0/1 99 49 23 26 0.53 UTR3 rs2450138 USP35 AU 0.261581 0.3988 0.155217 0.2229 0.3768 Uncertain 11_77930345_T->C 11 77930345 77930345 T C snp 829.77 0/1 99 91 54 37 0.41 exonic rs2450122 GAB2 AU synonymous SNV NM_080491 exon10 c.A2004G p.S668S 0.264577 0.3978 0.167976 0.2196 0.3760 Uncertain 11_77930499_G->A 11 77930499 77930499 G A snp 722.77 0/1 99 72 41 31 0.43 intronic rs901104 GAB2 AU NM_080491 exon1 c.144+38G>A 0.223842 0.3938 0.127234 0.2072 0.3718 Uncertain 11_77931346_C->T 11 77931346 77931346 C T snp 185.77 0/1 99 16 9 7 0.44 intronic rs901103 GAB2 AU NM_080491 exon2 c.1047-18C>T 0.245607 0.3938 0.145256 0.2148 0.3711 Uncertain 11_77936064_A->C 11 77936064 77936064 A C snp 110.77 0/1 99 10 6 4 0.4 intronic rs1385601 GAB2 AU NM_080491 exon6 c.5836-89A>C 0.346446 0.4008 Uncertain 11_77936166_A->G 11 77936166 77936166 A G snp 588.77 0/1 99 74 48 26 0.35 exonic rs1385600 GAB2 AU synonymous SNV NM_080491 exon5 c.T1290C p.V430V 0.346246 0.4008 0.253543 0.2451 0.3788 Uncertain 11_77937657_C->G 11 77937657 77937657 C G snp 47.77 0/1 76 65 42 23 0.35 exonic rs749634672 GAB2 AU nonsynonymous SNV NM_080491 exon4 c.G1061C p.R354P 0.0093 0.0014 0.35 T 1 D -0.710 T 1.0 D 0.997 D Pathogenic 11_77937800_G->A 11 77937800 77937800 G A snp 1952.77 0/1 99 139 54 85 0.61 exonic rs2248407 GAB2 AU synonymous SNV NM_080491 exon4 c.C918T p.F306F 0.315895 0.3978 0.220887 0.2339 0.3743 Uncertain 11_78128775_C->T 11 78128775 78128775 C T snp 952.77 0/1 99 98 51 47 0.48 UTR5 rs11237488 GAB2 AU 0.199281 0.4067 0.079467 0.2273 0.4141 Uncertain 11_78128797_C->T 11 78128797 78128797 C T snp 864.77 0/1 99 85 44 41 0.48 UTR5 rs881338 GAB2 AU 0.23722 0.4226 0.124708 0.2896 0.4504 Uncertain 11_78180179_A->G 11 78180179 78180179 A G snp 974.77 0/1 99 61 20 41 0.67 intronic rs11237514 NARS2 AR NM_024678 exon5 c.32577-113A>G 0.254593 0.4177 Uncertain 11_78180507_A->T 11 78180507 78180507 A T snp 227.77 0/1 99 11 4 7 0.64 intronic rs10899517 NARS2 AR NM_024678 exon5 c.32644+148A>T 0.297524 0.4177 Uncertain 11_78180508_A->C 11 78180508 78180508 A C snp 194.77 0/1 99 10 4 6 0.6 intronic rs10899518 NARS2 AR NM_024678 exon5 c.32644+149A>C 0.297524 0.4177 Uncertain 11_78189558_T->C 11 78189558 78189558 T C snp 66.77 0/1 65 7 2 5 0.71 intronic rs4944202 NARS2 AR NM_024678 exon6 c.41806+37T>C 0.298123 0.4196 0.214651 0.4206 0.5773 Uncertain 11_78204074_ACAGAT->- 11 78204074 78204079 ACAGAT - indel 2978.73 0/1 99 77 40 37 0.48 intronic rs55758315 NARS2 AR NM_024678 exon8 c.56393-34_56393-29delACAGAT 0.688498 0.5813 0.753618 0.7460 0.5845 Uncertain 11_78204299_-->A 11 78204299 78204299 - A indel 670.73 0/1 99 50 19 31 0.62 intronic rs397727399 NARS2 AR NM_024678 exon8 c.56526+58insA 0.655551 0.5813 Uncertain 11_78204380_C->T 11 78204380 78204380 C T snp 120.77 0/1 64 6 2 4 0.67 intronic rs4474465 NARS2 AR NM_024678 exon8 c.56526+139C>T 0.655551 0.5813 Uncertain 11_78204406_C->T 11 78204406 78204406 C T snp 77.77 0/1 30 4 1 3 0.75 intronic rs4474466 NARS2 AR NM_024678 exon8 c.56526+165C>T 0.655551 0.5813 Uncertain 11_78277277_A->G 11 78277277 78277277 A G snp 1644.77 0/1 99 132 61 71 0.54 exonic rs10751296 NARS2 AR synonymous SNV NM_024678 exon4 c.T414C p.Y138Y 0.650559 0.5794 0.734170 0.7162 0.5740 Uncertain 11_78279790_T->G 11 78279790 78279790 T G snp 714.77 0/1 99 66 34 32 0.48 exonic rs10501429 NARS2 AR nonsynonymous SNV NM_024678 exon3 c.A260C p.N87T 0.710064 0.6012 0.790710 0.7382 0.5910 1 T 1.0 P -0.955 T 0.0 T 0.0 T Pathogenic 11_78282632_T->C 11 78282632 78282632 T C snp 75.77 0/1 99 6 3 3 0.5 intronic rs4945300 NARS2 AR NM_024678 exon13 c.134774+143T>C 0.588658 0.5883 Uncertain 11_78379932_AGTAAGAGC->- 11 78379932 78379940 AGTAAGAGC - indel 563.73 0/1 99 19 13 6 0.32 intronic rs142823873 TENM4 AD NM_001098816 exon3 c.10879-49_10879-41delAGTAAGAGC 0.0319489 0.1518 0.004127 Uncertain 11_78602150_C->T 11 78602150 78602150 C T snp 52.74 1/1 6 2 0 2 1.0 intronic rs613823 TENM4 AD NM_001098816 exon27 c.233180-132C>T 0.920128 0.8175 Uncertain 11_78602525_C->A 11 78602525 78602525 C A snp 1010.77 1/1 75 33 0 33 1.0 intronic rs10736817 TENM4 AD NM_001098816 exon27 c.233279+144C>A 0.519169 0.7986 Uncertain 11_78776192_T->C 11 78776192 78776192 T C snp 347.78 1/1 27 9 0 9 1.0 intronic rs7130258 TENM4 AD NM_001098816 exon29 c.406950+140T>C 0.532348 0.3214 Uncertain 11_79133220_T->C 11 79133220 79133220 T C snp 451.77 0/1 99 59 38 21 0.36 ncRNA_exonic rs11237828 MIR5579 AU 0.269369 0.375 0.4375 . Uncertain 11_82443417_C->T 11 82443417 82443417 C T snp 848.77 0/1 99 71 37 34 0.48 UTR3 rs3780 FAM181B AU 0.640176 0.6319 Uncertain 11_82443672_C->G 11 82443672 82443672 C G snp 1571.77 0/1 99 116 55 61 0.53 exonic rs6592081 FAM181B AU nonsynonymous SNV NM_175885 exon1 c.G1100C p.R367P 0.639976 0.6319 0.420426 0.6041 0.7040 0.0 P -1.016 T 0.0 T 0.0 T Pathogenic 11_82443817_G->A 11 82443817 82443817 G A snp 1327.77 0/1 99 112 51 61 0.54 exonic rs2291793 FAM181B AU synonymous SNV NM_175885 exon1 c.C955T p.L319L 0.228834 0.497 0.082673 0.2862 0.4634 Uncertain 11_82444021_T->G 11 82444021 82444021 T G snp 1212.77 0/1 99 130 70 60 0.46 exonic rs66918959 FAM181B AU nonsynonymous SNV NM_175885 exon1 c.A751C p.S251R 0.229034 0.497 0.115156 0.2899 0.5613 0.056 P -0.943 T 0.815 T 0.316 P Pathogenic 11_82444216_C->G 11 82444216 82444216 C G snp 693.77 0/1 99 56 25 31 0.55 exonic rs986097 FAM181B AU nonsynonymous SNV NM_175885 exon1 c.G556C p.V186L 0.445288 0.627 0.5408 0.7083 0.0 P -0.977 T 0.0 T 0.001 T Pathogenic 11_82444226_C->A 11 82444226 82444226 C A snp 615.77 0/1 99 54 26 28 0.52 exonic rs986096 FAM181B AU synonymous SNV NM_175885 exon1 c.G546T p.A182A 0.311102 0.5486 0.4240 0.5 Uncertain 11_82535963_C->T 11 82535963 82535963 C T snp 1502.77 0/1 99 109 46 63 0.58 exonic rs4759 PRCP AU synonymous SNV NM_005040 exon9 c.G1476A p.A492A 0.196486 0.5496 0.064893 0.1458 0.5568 Uncertain 11_82560312_T->G 11 82560312 82560312 T G snp 1095.77 0/1 99 92 47 45 0.49 intronic rs10792653 PRCP AU NM_199418 exon4 c.24313+52T>G 0.452875 0.3323 0.461761 0.4629 0.3308 Uncertain 11_82560858_A->G 11 82560858 82560858 A G snp 67.77 0/1 96 16 11 5 0.31 intronic rs10736757 PRCP AU NM_199418 exon5 c.25008-97A>G 0.451078 0.3313 Uncertain 11_82561339_G->A 11 82561339 82561339 G A snp 367.77 0/1 99 41 23 18 0.44 intronic rs13306597 PRCP AU NM_199418 exon6 c.25418-26G>A 0.26258 0.1796 0.250807 0.2280 0.1609 Uncertain 11_82561661_T->C 11 82561661 82561661 T C snp 86.77 0/1 33 6 2 4 0.67 intronic rs10792655 PRCP AU NM_199418 exon6 c.25600+114T>C 0.451278 0.3304 Uncertain 11_82564294_T->G 11 82564294 82564294 T G snp 844.77 0/1 99 68 29 39 0.57 exonic rs2229437 PRCP AU nonsynonymous SNV NM_005040 exon3 c.A336C p.E112D 0.139377 0.1131 0.162233 0.1581 0.1035 0.998 P -1.042 T 0.087 T 0.081 T Pathogenic 11_82595975_T->A 11 82595975 82595975 T A snp 967.77 0/1 99 96 54 42 0.44 intronic rs6592087 PRCP AU NM_199418 exon9 c.59980+48T>A 0.52516 0.2877 0.557488 0.5049 0.2860 Uncertain 11_82641157_A->G 11 82641157 82641157 A G snp 544.77 0/1 99 51 25 26 0.51 intronic rs2170009 DDIAS AU NM_145018 exon5 c.15418-41A>G 0.527157 0.2887 0.552449 0.5092 0.2921 Uncertain 11_82641364_G->C 11 82641364 82641364 G C snp 85.78 0/1 24 6 1 5 0.83 intronic rs10431162 DDIAS AU NM_145018 exon5 c.15536+48G>C 0.257388 0.1161 0.263697 0.2278 0.0965 Uncertain 11_82643760_G->T 11 82643760 82643760 G T snp 2009.77 0/1 99 215 126 89 0.41 exonic rs7947780 DDIAS AU nonsynonymous SNV NM_145018 exon6 c.G1380T p.R460S 0.307508 0.3244 0.308473 0.3483 0.3263 0.0 P -0.967 T 0.048 T 0.014 T Pathogenic 11_82644904_G->A 11 82644904 82644904 G A snp 3069.77 0/1 99 250 133 117 0.47 exonic rs7130899 DDIAS AU nonsynonymous SNV NM_145018 exon6 c.G2524A p.V842I 0.553514 0.3442 0.577810 0.5169 0.3364 0.0 P -0.977 T 0.0 T 0.0 T Pathogenic 11_82704967_C->A 11 82704967 82704967 C A snp 206.77 0/1 99 19 11 8 0.42 intronic rs3793986 RAB30 AU NM_001286060 exon3 c.11874-113C>A 0.262181 0.2986 Uncertain 11_82704968_A->T 11 82704968 82704968 A T snp 271.77 0/1 99 20 11 9 0.45 intronic rs3793987 RAB30 AU NM_001286060 exon3 c.11874-112A>T 0.261981 0.2986 Uncertain 11_82874970_G->A 11 82874970 82874970 G A snp 577.77 0/1 99 43 23 20 0.47 intronic rs10898088 PCF11 AU NM_015885 exon3 c.6428+61G>A 0.534944 0.5843 Uncertain 11_82921538_C->T 11 82921538 82921538 C T snp 1565.77 1/1 99 48 0 48 1.0 intronic rs553484 ANKRD42 AU NM_001300975 exon4 c.15749+77C>T 0.346645 0.5813 Uncertain 11_82952108_T->C 11 82952108 82952108 T C snp 653.77 1/1 51 19 0 19 1.0 intronic rs625102 ANKRD42 AU NM_001300975 exon9 c.46264+132T>C 0.702077 0.625 Uncertain 11_82959339_ACAC->- 11 82959339 82959342 ACAC - indel 778.73 1/1 42 22 0 22 1.0 UTR3 rs71463157 ANKRD42 AU Uncertain 11_82967023_A->G 11 82967023 82967023 A G snp 938.77 1/1 69 29 0 29 1.0 UTR3 rs565276 ANKRD42 AU 0.235423 0.2391 0.2882 0.2211 Uncertain 11_82968164_G->A 11 82968164 82968164 G A snp 871.77 1/1 63 32 0 32 1.0 intergenic rs628223 ANKRD42 AU 0.703874 0.623 Uncertain 11_82968418_G->A 11 82968418 82968418 G A snp 627.77 1/1 45 24 0 24 1.0 intergenic rs657824 ANKRD42 AU 0.703874 0.623 0.6742 0.6231 Uncertain 11_82973004_C->T 11 82973004 82973004 C T snp 2673.77 1/1 99 94 0 94 1.0 exonic rs8789 CCDC90B AU synonymous SNV NM_021825 exon9 c.G714A p.S238S 0.46865 0.3502 0.471475 0.4151 0.3228 1.0 P -0.972 T Likely benign 11_82973045_C->T 11 82973045 82973045 C T snp 1477.77 1/1 99 52 0 52 1.0 intronic rs645954 CCDC90B AU NM_021825 exon1 c.56+37C>T 0.704073 0.623 0.740351 0.6681 0.5750 Uncertain 11_82985162_A->- 11 82985162 82985162 A - indel 279.74 1/1 27 10 0 10 1.0 intronic rs34416960 CCDC90B AU NM_021825 exon5 c.12083+127delA 0.468051 0.3502 Uncertain 11_82985959_C->T 11 82985959 82985959 C T snp 94.28 1/1 9 3 0 3 1.0 intronic rs573871 CCDC90B AU NM_021825 exon6 c.12831+176C>T 0.468051 0.3502 Uncertain 11_82996986_A->C 11 82996986 82996986 A C snp 7618.77 1/1 99 250 0 250 1.0 exonic rs494791 CCDC90B AU nonsynonymous SNV NM_021825 exon1 c.T30G p.F10L 0.677716 0.5794 0.735158 0.6611 0.5607 0.0 P -1.019 T 0.0 T 0.0 T Pathogenic 11_83180522_T->C 11 83180522 83180522 T C snp 240.77 0/1 99 19 10 9 0.47 intronic rs1432051 DLG2 AU NM_001142702 exon4 c.9556+106T>C 0.244808 0.2391 Uncertain 11_83180534_A->C 11 83180534 83180534 A C snp 290.77 0/1 99 16 7 9 0.56 intronic rs7939356 DLG2 AU NM_001142702 exon4 c.9556+118A>C 0.266573 0.2688 Uncertain 11_83183676_T->C 11 83183676 83183676 T C snp 3674.77 1/1 99 134 0 134 1.0 intronic rs2888834 DLG2 AU NM_001142702 exon6 c.12909-93T>C 0.212061 0.3026 Uncertain 11_83197206_-->TGAT 11 83197206 83197206 - TGAT indel 4064.73 1/1 99 63 0 63 1.0 intronic rs144203408 DLG2 AU NM_001142699 exon7 c.24411+1935insTGAT 0.163139 0.2599 Uncertain 11_83197308_A->- 11 83197308 83197308 A - indel 825.73 1/1 78 29 0 29 1.0 intronic rs141813606 DLG2 AU NM_001142699 exon7 c.24411+2037delA 0.257188 0.3661 0.3200 0.4091 Uncertain 11_83641608_G->A 11 83641608 83641608 G A snp 1426.77 1/1 66 56 1 55 0.98 intronic rs66861805 DLG2 AU NM_001142699 exon14 c.470666+82G>A 0.303115 0.249 Uncertain 11_83691458_G->C 11 83691458 83691458 G C snp 96.77 0/1 99 10 6 4 0.4 intronic rs10792700 DLG2 AU NM_001142699 exon17 c.520688-90G>C 0.622804 0.6875 Uncertain 11_83810113_T->G 11 83810113 83810113 T G snp 515.77 0/1 99 60 35 25 0.42 intronic rs3750917 DLG2 AU NM_001142699 exon19 c.639230+23T>G 0.763379 0.752 0.843844 0.8541 0.7813 Uncertain 11_83878075_G->A 11 83878075 83878075 G A snp 1142.77 0/1 99 112 58 54 0.48 intronic rs1869472 DLG2 AU NM_001142699 exon20 c.703694+3521G>A 0.815296 0.7361 Uncertain 11_83962251_A->G 11 83962251 83962251 A G snp 151.77 0/1 99 17 9 8 0.47 intronic rs7933566 DLG2 AU NM_001142699 exon21 c.791420-29A>G 0.71246 0.746 0.753453 0.7886 0.7785 Uncertain 11_84027768_C->A 11 84027768 84027768 C A snp 1240.84 1/1 18 49 3 46 0.94 intronic rs1515083 DLG2 AU NM_001206769 exon22 c.857007-99C>A 0.140575 0.2897 Uncertain 11_84822798_T->G 11 84822798 84822798 T G snp 999.77 1/1 72 34 0 34 1.0 intronic rs601375 DLG2 AU NM_001142699 exon23 c.1651919+19T>G 0.741813 0.9315 0.717109 0.6546 0.9447 Uncertain 11_85339542_G->T 11 85339542 85339542 G T snp 245.8 1/1 21 8 0 8 1.0 upstream rs575050 TMEM126B AR,XD,AO 0.45008 0.5893 Uncertain 11_85418592_ACAG->- 11 85418592 85418595 ACAG - indel 6591.73 1/1 99 120 0 120 1.0 intronic rs3069561 SYTL2 AU NM_001162951 exon6 c.12337+18_12337+21delACAG 0.527356 0.623 0.564398 0.5926 0.6324 Uncertain 11_85419193_C->T 11 85419193 85419193 C T snp 797.77 1/1 60 35 0 35 1.0 UTR5 rs290197 SYTL2 AU 0.734225 0.7202 0.6433 0.7615 Uncertain 11_85435001_-->A 11 85435001 85435001 - A indel 591.73 1/1 63 21 0 21 1.0 intronic rs34653849 SYTL2 AU NM_001162951 exon11 c.25765+2999insA 0.557708 0.6171 Uncertain 11_85435730_C->T 11 85435730 85435730 C T snp 4713.77 1/1 99 169 0 169 1.0 intronic rs550404 SYTL2 AU NM_001162951 exon12 c.32701-3208C>T 0.601637 0.6042 0.653645 0.6369 0.6072 Uncertain 11_85436352_G->A 11 85436352 85436352 G A snp 4265.77 1/1 99 154 0 154 1.0 intronic rs641393 SYTL2 AU NM_001162951 exon12 c.32701-2586G>A 0.521366 0.5972 0.565451 0.5924 0.6064 0.004 P -0.970 T 0.003 T 0.002 T Uncertain 11_85436394_T->C 11 85436394 85436394 T C snp 3302.77 1/1 99 109 0 109 1.0 intronic rs556669 SYTL2 AU NM_001162951 exon12 c.32701-2544T>C 0.666534 0.6012 0.713550 0.6547 0.6076 0.0 P -1.013 T 0.617 T 0.242 P Uncertain 11_85436500_T->C 11 85436500 85436500 T C snp 3071.77 1/1 99 110 1 109 0.99 intronic rs580459 SYTL2 AU NM_001162951 exon12 c.32701-2438T>C 0.666534 0.6012 0.713703 0.6545 0.6083 0.0 P -1.044 T 0.019 T 0.007 T Uncertain 11_85436699_A->G 11 85436699 85436699 A G snp 6948.77 1/1 99 239 0 239 1.0 intronic rs598346 SYTL2 AU NM_001162951 exon12 c.32701-2239A>G 0.902955 0.999 0.831206 0.8560 0.9988 Uncertain 11_85436868_G->C 11 85436868 85436868 G C snp 6004.77 1/1 99 203 0 203 1.0 intronic rs597480 SYTL2 AU NM_001162951 exon12 c.32701-2070G>C 0.521765 0.5972 0.566210 0.5919 0.6055 0.0 P -0.971 T 0.592 P 0.322 P Uncertain 11_85437896_A->G 11 85437896 85437896 A G snp 7222.77 1/1 99 250 0 250 1.0 intronic rs491867 SYTL2 AU NM_001162951 exon12 c.32701-1042A>G 0.670327 0.6141 0.6243 0.625 Uncertain 11_85444934_G->A 11 85444934 85444934 G A snp 668.77 0/1 99 55 30 25 0.45 intronic rs771077754 SYTL2 AU NM_001162951 exon13 c.38744-47G>A 9.025e-06 0 Uncertain 11_85447611_T->C 11 85447611 85447611 T C snp 1716.77 1/1 99 67 0 67 1.0 exonic rs680498 SYTL2 AU synonymous SNV NM_001162951 exon5 c.A516G p.S172S 0.653954 0.6171 0.701277 0.6528 0.6245 Uncertain 11_85447856_T->C 11 85447856 85447856 T C snp 54.74 1/1 6 2 0 2 1.0 intronic rs679204 SYTL2 AU NM_001162953 exon14 c.41421+198T>C 0.543131 0.6131 Uncertain 11_85456703_T->C 11 85456703 85456703 T C snp 1683.77 1/1 99 56 0 56 1.0 exonic rs647912 SYTL2 AU synonymous SNV NM_001162951 exon3 c.A366G p.E122E 0.546725 0.6141 0.591357 0.6012 0.6231 Uncertain 11_85956478_G->T 11 85956478 85956478 G T snp 567.77 0/1 99 37 16 21 0.57 intronic rs2291813 EED AU NM_003797 exon1 c.114+93G>T 0.0299521 0.0317 Uncertain 11_85961166_C->T 11 85961166 85961166 C T snp 77.77 0/1 99 7 4 3 0.43 intronic rs2270680 EED AU NM_003797 exon2 c.5066-171C>T 0.318091 0.3135 Uncertain 11_85963147_G->A 11 85963147 85963147 G A snp 41.77 0/1 70 4 2 2 0.5 intronic rs7116719 EED AU NM_003797 exon3 c.6918-42G>A 0.0597045 0.1498 0.012154 0.0321 0.1390 Uncertain 11_85966177_G->T 11 85966177 85966177 G T snp 1090.77 1/1 78 38 0 38 1.0 intronic rs7950735 EED AU NM_003797 exon4 c.9992-86G>T 0.653754 0.6597 Uncertain 11_85967709_G->A 11 85967709 85967709 G A snp 86.78 0/1 24 4 1 3 0.75 intronic rs10792842 EED AU NM_003797 exon5 c.11283+155G>A 0.295128 0.3135 Uncertain 11_85968623_C->T 11 85968623 85968623 C T snp 557.77 0/1 99 59 32 27 0.46 exonic rs974144 EED AU synonymous SNV NM_003797 exon6 c.C619T p.L207L 0.294728 0.3135 0.324412 0.3724 0.3719 Uncertain 11_85977117_G->A 11 85977117 85977117 G A snp 482.77 1/1 36 17 0 17 1.0 intronic rs10898460 EED AU NM_003797 exon8 c.20853-7G>A 0.764976 0.7212 0.818378 0.7872 0.7445 Uncertain 11_85979636_-->GTGTGTGT 11 85979636 85979636 - GTGTGTGT indel 2016.73 ./1 99 71 1 70 0.99 intronic rs398016976 EED AU NM_003797 exon9 c.23332+33insGTGTGTGT 0.156949 0.129 Uncertain 11_85979636_-->GTGT 11 85979636 85979636 - GTGT indel 2016.73 ./1 99 71 1 70 0.99 intronic rs537489147 EED AU NM_003797 exon9 c.23332+33insGTGT 0.123403 0.1518 Uncertain 11_85979669_A->G 11 85979669 85979669 A G snp 158.77 0/1 99 38 24 14 0.37 intronic rs34478589 EED AU NM_003797 exon9 c.23332+66A>G 0.371605 0.3393 Uncertain 11_86017658_A->T 11 86017658 86017658 A T snp 119.77 0/1 99 8 4 4 0.5 intronic rs291247 C11orf73 AU NM_016401 exon2 c.4034+134A>T 0.747404 0.7758 Uncertain 11_86055901_T->C 11 86055901 86055901 T C snp 258.77 0/1 99 20 10 10 0.5 intronic rs6592284 C11orf73 AU NM_016401 exon4 c.42273+138T>C 0.307907 0.3839 Uncertain 11_86086393_C->A 11 86086393 86086393 C A snp 77.77 0/1 99 7 4 3 0.43 intronic rs292093 CCDC81 AU NM_001156474 exon1 c.79+109C>A 0.770168 0.8433 Uncertain 11_86098680_T->C 11 86098680 86098680 T C snp 1214.77 0/1 99 125 70 55 0.44 exonic rs292109 CCDC81 AU synonymous SNV NM_001156474 exon3 c.T264C p.I88I 0.662141 0.6875 0.616521 0.6021 0.7102 Uncertain 11_86119225_T->G 11 86119225 86119225 T G snp 1136.77 0/1 99 97 42 55 0.57 exonic rs200061603 CCDC81 AU nonsynonymous SNV NM_021827 exon8 c.T756G p.S252R 0.000998403 0.005 0.0004 0.0049 0.821 N -0.964 T 0.886 T 0.468 P Pathogenic 11_86119396_G->A 11 86119396 86119396 G A snp 56.74 1/1 6 2 0 2 1.0 intronic rs4412777 CCDC81 AU NM_001156474 exon9 c.33107+84G>A 0.804313 0.7649 Uncertain 11_86120586_C->T 11 86120586 86120586 C T snp 167.77 0/1 99 15 9 6 0.4 intronic rs11234641 CCDC81 AU NM_001156474 exon10 c.34202+179C>T 0.178714 0.2133 Uncertain 11_86123556_A->G 11 86123556 86123556 A G snp 1874.77 0/1 99 194 108 86 0.44 exonic rs3741005 CCDC81 AU nonsynonymous SNV NM_021827 exon10 c.A1076G p.Y359C 0.048123 0.0496 0.072835 0.0850 0.0423 0.166 P -1.050 T 0.733 T 0.424 P Pathogenic 11_86133784_C->T 11 86133784 86133784 C T snp 4991.77 1/1 99 178 0 178 1.0 UTR3 rs1056194 CCDC81 AU 0.804113 0.7619 0.780265 0.7768 0.7496 Uncertain 11_86157998_T->C 11 86157998 86157998 T C snp 654.77 1/1 48 24 0 24 1.0 intronic rs4944580 ME3 AU NM_001161586 exon4 c.5786-108T>C 0.804712 0.7679 Uncertain 11_86161147_A->C 11 86161147 86161147 A C snp 899.77 1/1 46 30 1 29 0.97 intronic rs4944581 ME3 AU NM_001161586 exon6 c.8724+103A>C 0.802716 0.7669 Uncertain 11_86173565_C->G 11 86173565 86173565 C G snp 289.77 0/1 99 30 19 11 0.37 intronic rs601646 ME3 AU NM_001161586 exon8 c.23812-2567C>G 0.251398 0.3343 Uncertain 11_86175300_G->A 11 86175300 86175300 G A snp 531.77 0/1 99 67 43 24 0.36 intronic rs605251 ME3 AU NM_001161586 exon8 c.23812-832G>A 0.821885 0.7421 Uncertain 11_86198335_C->T 11 86198335 86198335 C T snp 991.77 0/1 99 65 26 39 0.6 intronic rs669325 ME3 AU NM_001161586 exon9 c.46058-43C>T 0.230831 0.3383 0.237886 0.2585 0.3193 Uncertain 11_86208897_A->G 11 86208897 86208897 A G snp 187.77 0/1 99 11 5 6 0.55 intronic rs609848 ME3 AU NM_001161586 exon10 c.56684-107A>G 0.720847 0.7103 Uncertain 11_86267633_C->T 11 86267633 86267633 C T snp 1532.77 0/1 99 181 108 73 0.4 exonic rs17211115 ME3 AU synonymous SNV NM_001014811 exon3 c.G429A p.L143L 0.275559 0.5317 0.174358 0.2231 0.5338 Uncertain 11_86267714_C->A 11 86267714 86267714 C A snp 1496.77 0/1 99 197 128 69 0.35 exonic rs12287767 ME3 AU synonymous SNV NM_001014811 exon3 c.G348T p.R116R 0.276158 0.5327 0.174435 0.2237 0.5377 Uncertain 11_86649986_T->C 11 86649986 86649986 T C snp 657.77 0/1 99 49 25 24 0.49 intergenic rs77433857 OR7E2P AU 0.0423323 0.0357 Uncertain 11_86650282_T->C 11 86650282 86650282 T C snp 303.77 0/1 99 23 10 13 0.57 intergenic rs4631906 OR7E2P AU 0.690695 0.5942 Uncertain 11_86778589_A->G 11 86778589 86778589 A G snp 90.28 1/1 9 3 0 3 1.0 intronic rs2445587 TMEM135 AU NM_001168724 exon2 c.29648-146A>G 0.647764 0.8234 Uncertain 11_86782717_T->- 11 86782717 86782717 T - indel 971.73 1/1 99 49 0 49 1.0 intronic rs5793233 TMEM135 AU NM_001168724 exon3 c.33570+60delT 0.358227 0.6012 Uncertain 11_86782728_T->G 11 86782728 86782728 T G snp 891.77 1/1 36 36 2 34 0.94 intronic rs2513239 TMEM135 AU NM_001168724 exon3 c.33570+71T>G 0.419529 0.6002 Uncertain 11_86868347_C->T 11 86868347 86868347 C T snp 437.77 1/1 33 16 0 16 1.0 intronic rs556139 TMEM135 AU NM_022918 exon5 c.119295-35C>T 0.46246 0.6895 0.337517 0.3932 0.6737 Uncertain 11_86868362_T->- 11 86868362 86868362 T - indel 326.73 1/1 42 14 0 14 1.0 intronic rs59532014 TMEM135 AU NM_022918 exon5 c.119295-20delT 0.4176 0.6382 Uncertain 11_87032215_T->C 11 87032215 87032215 T C snp 1183.77 1/1 87 38 0 38 1.0 intronic rs7112344 TMEM135 AU NM_001168724 exon14 c.283155-27T>C 1 1 0.9999 1 Uncertain 11_87846757_C->T 11 87846757 87846757 C T snp 650.77 0/1 99 74 50 24 0.32 UTR3 rs9144 RAB38 AU 0.716853 0.6855 Uncertain 11_87847018_C->T 11 87847018 87847018 C T snp 3200.06 1/1 99 110 0 110 1.0 UTR3 rs3740925 RAB38 AU 0.921526 0.8462 Uncertain 11_87908346_C->G 11 87908346 87908346 C G snp 987.77 0/1 99 67 32 35 0.52 splicing rs302647 RAB38 AU NM_022337 exon3 c.61195-4C>G 0.240415 0.3194 0.251770 0.4012 0.3911 Pathogenic 11_87908448_A->G 11 87908448 87908448 A G snp 6605.77 1/1 99 239 0 239 1.0 exonic rs302646 RAB38 AU synonymous SNV NM_022337 exon1 c.T105C p.S35S 0.745607 0.6012 0.840692 0.8023 0.5599 1.000 P -1.005 T Likely benign 11_87908563_G->A 11 87908563 87908563 G A snp 1796.77 0/1 99 166 85 81 0.49 UTR5 rs3812730 RAB38 AU 0.207468 0.1667 0.246077 0.2389 0.1729 0.001 P -0.985 T Uncertain 11_88027209_T->C 11 88027209 88027209 T C snp 1093.77 0/1 99 125 74 51 0.41 exonic rs3888798 CTSC AR nonsynonymous SNV NM_001814 exon7 c.A1357G p.I453V 0.0838658 0.1151 0.048769 0.0616 0.0969 1 D -0.842 T 0.687 T 0.713 P ID=CM086741;DIS=Periodontitis, aggressive, association with;TAG=DFP;PUB=18809751 DFP Pathogenic 11_88027393_A->C 11 88027393 88027393 A C snp 887.77 0/1 99 95 58 37 0.39 exonic rs17594 CTSC AR synonymous SNV NM_001814 exon7 c.T1173G p.T391T 0.0856629 0.1151 0.048308 0.0630 0.0968 Uncertain 11_88033661_A->G 11 88033661 88033661 A G snp 2537.77 1/1 99 87 0 87 1.0 intronic rs217116 CTSC AR NM_001814 exon3 c.6524-36A>G 0.930112 0.9911 0.865287 0.8865 0.9960 Uncertain 11_88033828_T->C 11 88033828 88033828 T C snp 1607.77 0/1 99 117 53 64 0.55 intronic rs748280232 CTSC AR NM_001814 exon3 c.6640+15T>C 8.332e-06 0.0001 Uncertain 11_88045583_A->G 11 88045583 88045583 A G snp 3612.77 1/1 99 128 0 128 1.0 exonic rs217086 CTSC AR nonsynonymous SNV NM_001814 exon3 c.T458C p.I153T 0.930911 0.999 0.864077 0.8861 0.9995 0.0 P -0.941 T 0.0 T 0.0 T ID=CM002936;DIS=Papillon-Lefevre syndrome;TAG=DM?;PUB=11106356 DM? Pathogenic 11_88045815_-->T 11 88045815 88045815 - T indel 902.73 1/1 72 27 0 27 1.0 intronic rs397753888 CTSC AR NM_001814 exon5 c.18549+93insT 0.930911 0.999 Uncertain 11_88059683_G->A 11 88059683 88059683 G A snp 251.8 1/1 21 8 0 8 1.0 intronic rs217060 CTSC AR NM_148170 exon1 c.11+72G>A 0.857827 0.999 0.757895 Uncertain 11_88068004_T->A 11 88068004 88068004 T A snp 224.84 1/1 18 6 0 6 1.0 intronic rs217075 CTSC AR NM_001114173 exon3 c.8560-100T>A 0.857428 0.999 Uncertain 11_88068052_G->T 11 88068052 88068052 G T snp 665.77 1/1 51 23 0 23 1.0 intronic rs217076 CTSC AR NM_001114173 exon3 c.8560-52G>T 0.857428 0.999 Uncertain 11_88068257_A->- 11 88068257 88068257 A - indel 309.73 0/1 99 46 17 29 0.63 intronic rs11326739 CTSC AR NM_001114173 exon3 c.8706+7delA 0.229669 0.2414 0.2617 Uncertain 11_88068329_T->A 11 88068329 88068329 T A snp 351.78 1/1 27 9 0 9 1.0 intronic rs217077 CTSC AR NM_001114173 exon3 c.8706+79T>A 0.867212 0.999 Uncertain 11_88242024_T->G 11 88242024 88242024 T G snp 5274.77 1/1 99 196 0 196 1.0 exonic rs2941563 GRM5 AU synonymous SNV NM_001143831 exon9 c.A3375C p.G1125G 0.969449 0.999 0.939767 0.9465 0.9994 Uncertain 11_88258689_C->T 11 88258689 88258689 C T snp 427.77 0/1 99 20 5 15 0.75 intronic rs4753486 GRM5 AU NM_001143831 exon2 c.16813+117C>T 0.358027 0.4772 Uncertain 11_88338165_G->A 11 88338165 88338165 G A snp 734.77 0/1 99 61 30 31 0.51 intronic rs3816649 GRM5 AU NM_000842 exon5 c.96373+33G>A 0.848642 0.9266 0.863462 0.8958 0.9135 Uncertain 11_88386739_A->T 11 88386739 88386739 A T snp 83.77 0/1 69 5 2 3 0.6 intronic rs72639182 GRM5 AU NM_000842 exon6 c.144812+168A>T 0.0313498 0.0972 Uncertain 11_88645211_G->A 11 88645211 88645211 G A snp 3772.77 1/1 99 138 0 138 1.0 intronic rs72643348 GRM5 AU NM_000842 exon7 c.341564+61888G>A 0.136581 0.1806 0.0818 0.1921 0.0 P Uncertain 11_89070497_G->A 11 89070497 89070497 G A snp 120.77 0/1 69 7 3 4 0.57 intronic rs1393347 NOX4 AU NM_001291929 exon3 c.10691-117G>A 0.0808706 0.0823 Uncertain 11_89070705_T->C 11 89070705 89070705 T C snp 1026.77 0/1 99 90 48 42 0.47 intronic rs3737449 NOX4 AU NM_001291929 exon3 c.10760+22T>C 0.0808706 0.0823 0.054760 0.0923 0.0737 Uncertain 11_89073414_G->C 11 89073414 89073414 G C snp 423.77 0/1 99 34 14 20 0.59 intronic rs16913141 NOX4 AU NM_001291929 exon4 c.13416+75G>C 0.0804712 0.0804 Uncertain 11_89088168_G->A 11 89088168 89088168 G A snp 1894.77 0/1 99 175 92 83 0.47 exonic rs75735530 NOX4 AU synonymous SNV NM_001291927 exon13 c.C1242T p.S414S 0.0864617 0.0883 0.054418 0.0950 0.0782 Uncertain 11_89133449_C->T 11 89133449 89133449 C T snp 7257.77 1/1 99 250 0 250 1.0 exonic rs317139 NOX4 AU nonsynonymous SNV NM_001291927 exon10 c.G1008A p.M336I 0.997404 1 0.993077 0.9925 1 0.000 P -0.958 T 0.0 T 0.0 T Pathogenic 11_89221958_G->C 11 89221958 89221958 G C snp 164.78 0/1 24 6 1 5 0.83 intronic rs597046 NOX4 AU NM_001143837 exon17 c.163702-1667G>C 0.883586 0.7956 Uncertain 11_89223616_C->G 11 89223616 89223616 C G snp 1221.77 0/1 99 107 55 52 0.49 intronic rs490934 NOX4 AU NM_001143837 exon17 c.163702-9C>G 0.879792 0.8006 0.943692 0.9023 0.7797 Uncertain 11_89224477_G->A 11 89224477 89224477 G A snp 482.77 0/1 99 27 13 14 0.52 upstream rs2289124 NOX4 AU 0.245407 0.2579 Uncertain 11_89385711_T->C 11 89385711 89385711 T C snp 840.77 0/1 99 56 17 39 0.7 intergenic rs72643352 NOX4 AU 0.114217 0.1865 Uncertain 11_89403414_C->T 11 89403414 89403414 C T snp 307.78 1/1 24 8 0 8 1.0 intronic rs10734120 FOLH1B AU NM_153696 exon4 c.981-143C>T 0.96865 1 Uncertain 11_89403728_T->C 11 89403728 89403728 T C snp 698.77 0/1 99 34 7 27 0.79 intronic rs10765231 FOLH1B AU NM_153696 exon4 c.1067+85T>C 0.435703 0.627 Uncertain 11_89404942_T->- 11 89404942 89404942 T - indel 38.73 0/1 76 17 12 5 0.29 intronic rs11325465 FOLH1B AU NM_153696 exon5 c.2478-112delT 0.458666 0.4454 Uncertain 11_89413867_G->A 11 89413867 89413867 G A snp 2438.77 1/1 99 91 0 91 1.0 intronic rs7128813 FOLH1B AU NM_153696 exon8 c.11268+23G>A 0.710863 0.7629 0.652130 0.6233 0.7809 Uncertain 11_89423137_A->G 11 89423137 89423137 A G snp 196.77 0/1 99 14 6 8 0.57 intronic rs7952304 FOLH1B AU NM_153696 exon11 c.21473-912A>G 0.401358 0.4355 Uncertain 11_89424716_A->G 11 89424716 89424716 A G snp 444.77 0/1 99 40 20 20 0.5 intronic rs2035677 FOLH1B AU NM_153696 exon12 c.22120+20A>G 0.252196 0.3194 0.283657 0.3116 0.2879 Uncertain 11_89424737_TGTGTATATATATATATATATATA->- 11 89424737 89424760 TGTGTATATATATATATATATATA - indel 1934.73 0/1 99 24 9 15 0.63 intronic rs59370786 FOLH1B AU NM_153696 exon12 c.22120+41_22120+64delTGTGTATATATATATATATATATA 0.0892 0.0567 Uncertain 11_89443315_C->T 11 89443315 89443315 C T snp 77.77 0/1 99 6 3 3 0.5 upstream rs10830353 TRIM77 AU 0.249002 0.3264 Uncertain 11_89443336_C->T 11 89443336 89443336 C T snp 114.77 0/1 99 8 4 4 0.5 upstream rs10830354 TRIM77 AU 0.248403 0.3264 Uncertain 11_89443429_G->A 11 89443429 89443429 G A snp 1328.77 0/1 99 112 59 53 0.47 upstream rs10830355 TRIM77 AU 0.248602 0.3264 0.308804 0.3301 0.2982 Uncertain 11_89443808_A->C 11 89443808 89443808 A C snp 2705.77 0/1 99 194 83 111 0.57 exonic rs11018745 TRIM77 AU synonymous SNV NM_001146162 exon1 c.A342C p.L114L 0.259585 0.3264 0.3105 0.2862 Uncertain 11_89443939_C->A 11 89443939 89443939 C A snp 336.77 0/1 99 20 9 11 0.55 intronic rs10830356 TRIM77 AU NM_001271942 exon1 c.411+62C>A 0.259784 0.3274 Uncertain 11_89444754_G->A 11 89444754 89444754 G A snp 1876.77 1/1 99 72 0 72 1.0 intronic rs7111680 TRIM77 AU NM_001271942 exon2 c.1207+81G>A 0.721446 0.7698 Uncertain 11_89447313_A->G 11 89447313 89447313 A G snp 321.77 0/1 99 36 22 14 0.39 intronic rs1967074 TRIM77 AU NM_001146162 exon3 c.3893-46A>G 0.259585 0.3264 0.319536 0.3187 0.2860 Uncertain 11_89451057_A->G 11 89451057 89451057 A G snp 1713.77 0/1 99 133 60 73 0.55 downstream rs3881253 TRIM77 AU 0.259585 0.3274 0.314392 0.3437 0.3155 Uncertain 11_89451071_C->A 11 89451071 89451071 C A snp 1379.77 0/1 99 102 47 55 0.54 downstream rs3881254 TRIM77 AU 0.259784 0.3274 0.3431 0.3117 Uncertain 11_89486848_C->G 11 89486848 89486848 C G snp 1354.77 0/1 99 249 182 67 0.27 intergenic rs11018769 TRIM77 AU 0.090454 0.1516 0.2613 Uncertain 11_89531540_C->T 11 89531540 89531540 C T snp 2457.77 0/1 99 222 112 110 0.5 exonic rs12417980 TRIM49 AU nonsynonymous SNV NM_020358 exon8 c.G1117A p.G373R 0.273962 0.3958 0.308120 0.3236 0.3459 0.0 P -1.045 T 0.834 T 0.703 P Pathogenic 11_89774198_T->- 11 89774198 89774198 T - indel 150.73 0/1 99 39 18 21 0.54 intronic rs200350663 TRIM49C AU NM_001195234 exon8 c.5839-20delT 0.2063 0.1470 Uncertain 11_89774236_C->G 11 89774236 89774236 C G snp 484.77 0/1 99 87 52 35 0.4 exonic rs74584169 TRIM49C AU nonsynonymous SNV NM_001195234 exon8 c.C877G p.H293D 0.3724 0.4500 0.000 P -0.939 T 0.01 T 0.009 T Pathogenic 11_89774397_T->C 11 89774397 89774397 T C snp 1230.77 0/1 99 139 74 65 0.47 exonic rs150273819 TRIM49C AU synonymous SNV NM_001195234 exon8 c.T1038C p.H346H 0.3131 0.4061 Uncertain 11_89774448_G->A 11 89774448 89774448 G A snp 1797.77 0/1 99 179 85 94 0.53 exonic rs77759231 TRIM49C AU synonymous SNV NM_001195234 exon8 c.G1089A p.K363K 0.46246 0.4603 0.3716 0.4726 Uncertain 11_89935586_G->T 11 89935586 89935586 G T snp 302.74 0/1 6 10 1 9 0.9 exonic rs1045861 CHORDC1 AU nonsynonymous SNV NM_001144073 exon10 c.C929A p.A310D 0.610423 0.6756 0.599723 0.6885 0.7152 1.000 P -0.930 T 0.007 T 0.002 T Pathogenic 11_89935908_G->A 11 89935908 89935908 G A snp 108.77 0/1 99 10 6 4 0.4 intronic rs3758756 CHORDC1 AU NM_012124 exon2 c.408-72G>A 0.457668 0.5605 Uncertain 11_89936093_T->C 11 89936093 89936093 T C snp 554.77 0/1 99 54 27 27 0.5 intronic rs3758757 CHORDC1 AU NM_012124 exon2 c.471+50T>C 0.457668 0.5605 0.390901 0.4896 0.6166 Uncertain 11_89939448_G->A 11 89939448 89939448 G A snp 518.77 0/1 99 55 30 25 0.45 intronic rs1943381 CHORDC1 AU NM_012124 exon5 c.3868+8G>A 0.598642 0.6756 0.578842 0.6872 0.7164 Uncertain 11_89939569_T->C 11 89939569 89939569 T C snp 436.77 0/1 99 41 21 20 0.49 intronic rs723715 CHORDC1 AU NM_012124 exon5 c.3868+129T>C 0.457668 0.5615 Uncertain 11_89943420_A->C 11 89943420 89943420 A C snp 48.74 1/1 6 2 0 2 1.0 intronic rs3740820 CHORDC1 AU NM_012124 exon6 c.8131-283A>C 0.457668 0.5615 Uncertain 11_89943548_-->CAGA 11 89943548 89943548 - CAGA indel 1769.73 0/1 99 59 30 29 0.49 intronic rs3832739 CHORDC1 AU NM_012124 exon6 c.8131-155insCAGA Uncertain 11_89946503_AAA->- 11 89946503 89946505 AAA - indel 662.73 0/1 99 45 20 25 0.56 intronic rs199835809 CHORDC1 AU NM_012124 exon8 c.11613-682_11613-680delAAA 0.45647 0.5575 Uncertain 11_89951368_A->- 11 89951368 89951368 A - indel 397.73 0/1 99 42 18 24 0.57 intronic rs34787918 CHORDC1 AU NM_012124 exon10 c.15780+16delA 0.479633 0.5694 0.5228 0.6166 Uncertain 11_90602241_G->A 11 90602241 90602241 G A snp 1142.77 0/1 99 100 49 51 0.51 ncRNA_intronic rs2105799 DISC1FP1 AU 0.141773 0.0585 0.095414 0.0822 0.05 Uncertain 11_91545212_C->G 11 91545212 91545212 C G snp 2774.77 1/1 99 100 0 100 1.0 intergenic rs4753345 DISC1FP1 AU 0.840655 0.9395 0.8142 0.9167 Uncertain 11_92085199_C->T 11 92085199 92085199 C T snp 457.77 0/1 99 27 9 18 0.67 upstream rs12801287 FAT3 AU 0.108227 0.0962 Uncertain 11_92088177_C->T 11 92088177 92088177 C T snp 3248.77 0/1 99 250 120 130 0.52 exonic rs7479732 FAT3 AU synonymous SNV NM_001008781 exon1 c.C2899T p.L967L 0.351038 0.1746 0.357857 0.2449 0.1656 Uncertain 11_92088604_T->G 11 92088604 92088604 T G snp 892.77 0/1 99 74 37 37 0.5 intronic rs117827432 FAT3 AU NM_001008781 exon1 c.3292+34T>G 0.000399361 0.002 0.0005 0.0039 Uncertain 11_92257703_T->G 11 92257703 92257703 T G snp 577.77 0/1 99 49 25 24 0.49 intronic rs561408 FAT3 AU NM_001008781 exon2 c.172521-96T>G 0.491214 0.5218 Uncertain 11_92292618_A->G 11 92292618 92292618 A G snp 44.74 1/1 6 2 0 2 1.0 intronic rs508848 FAT3 AU NM_001008781 exon2 c.172836+34504A>G 0.410543 0.5218 0.5904 0.4846 0.79 T 0.0 P -0.931 T Uncertain 11_92430662_T->A 11 92430662 92430662 T A snp 1201.77 0/1 99 78 25 53 0.68 intronic rs79390114 FAT3 AU NM_001008781 exon3 c.345333+51T>A 0.0455272 0.1994 0.003406 Uncertain 11_92430723_A->C 11 92430723 92430723 A C snp 493.77 0/1 99 23 6 17 0.74 intronic rs3911560 FAT3 AU NM_001008781 exon3 c.345333+112A>C 0.086861 0.2014 Uncertain 11_92531356_A->G 11 92531356 92531356 A G snp 3414.77 0/1 99 249 116 133 0.53 exonic rs7949157 FAT3 AU nonsynonymous SNV NM_001008781 exon9 c.A5177G p.Q1726R 0.769768 0.755 0.798241 0.8230 0.7470 0.53 T 0.000 P -1.004 T 0.0 T 0.001 T Pathogenic 11_92532677_T->C 11 92532677 92532677 T C snp 2703.77 0/1 99 250 139 111 0.44 exonic rs12362722 FAT3 AU synonymous SNV NM_001008781 exon9 c.T6498C p.P2166P 0.799321 0.755 0.826879 0.8272 0.7477 Uncertain 11_92534442_A->G 11 92534442 92534442 A G snp 6725.77 1/1 99 223 0 223 1.0 exonic rs3847531 FAT3 AU nonsynonymous SNV NM_001008781 exon9 c.A8263G p.I2755V 0.85643 0.9544 0.822877 0.8637 0.9416 0.9 T 1.000 P -0.957 T 0.0 T 0.0 T Pathogenic 11_92564767_T->G 11 92564767 92564767 T G snp 1644.77 0/1 99 109 45 64 0.59 intronic rs6483189 FAT3 AU NM_001008781 exon13 c.479509-20T>G 0.747204 0.6548 0.804156 0.8150 0.6457 Uncertain 11_92570812_T->A 11 92570812 92570812 T A snp 850.77 0/1 99 67 32 35 0.52 intronic rs11020075 FAT3 AU NM_001008781 exon16 c.485550-16T>A 0.385383 0.4435 0.316629 0.4042 0.4616 Uncertain 11_92570813_C->A 11 92570813 92570813 C A snp 859.77 0/1 99 68 33 35 0.51 intronic rs11020076 FAT3 AU NM_001008781 exon16 c.485550-15C>A 0.385383 0.4435 0.314830 0.4041 0.4613 Uncertain 11_92577031_C->T 11 92577031 92577031 C T snp 1661.77 0/1 99 122 57 65 0.53 intronic rs4753068 FAT3 AU NM_001008781 exon18 c.491821-68C>T 0.385982 0.4464 Uncertain 11_92577070_T->C 11 92577070 92577070 T C snp 1982.77 0/1 99 162 81 81 0.5 intronic rs4753419 FAT3 AU NM_001008781 exon18 c.491821-29T>C 0.386182 0.4474 0.370724 0.4126 0.4731 Uncertain 11_92590448_A->G 11 92590448 92590448 A G snp 969.77 0/1 99 90 49 41 0.46 exonic rs4753069 FAT3 AU nonsynonymous SNV NM_001008781 exon19 c.A11434G p.S3812G 0.828474 0.6706 0.841788 0.8175 0.6797 0.57 T 1.000 P -1.008 T 0.0 T 0.0 T Pathogenic 11_92599851_G->A 11 92599851 92599851 G A snp 2781.77 0/1 99 218 111 107 0.49 intronic rs3847553 FAT3 AU NM_001008781 exon21 c.514628-55G>A 0.751198 0.6647 Uncertain 11_92615715_C->T 11 92615715 92615715 C T snp 185.77 0/1 99 13 5 8 0.62 intronic rs12224637 FAT3 AU NM_001008781 exon23 c.530625-188C>T 0.733626 0.5516 Uncertain 11_92615751_-->C 11 92615751 92615751 - C indel 301.73 0/1 99 32 15 17 0.53 intronic rs58520864 FAT3 AU NM_001008781 exon23 c.530625-152insC Uncertain 11_92623877_G->A 11 92623877 92623877 G A snp 2221.77 0/1 99 150 63 87 0.58 exonic rs12277422 FAT3 AU synonymous SNV NM_001008781 exon25 c.G13272A p.P4424P 0.226238 0.2381 0.239926 0.2439 0.2639 Uncertain 11_92718127_G->C 11 92718127 92718127 G C snp 1533.77 0/1 99 133 66 67 0.5 intergenic rs1447350 MTNR1B AD 0.613019 0.6994 0.6383 0.7239 0.0 P -0.993 T Uncertain 11_92718163_A->G 11 92718163 92718163 A G snp 1120.77 0/1 99 83 37 46 0.55 intergenic rs1447351 MTNR1B AD 0.628594 0.7004 0.6518 0.7540 Uncertain 11_92882096_A->T 11 92882096 92882096 A T snp 375.77 1/1 30 10 0 10 1.0 intronic rs3758676 SLC36A4 AU NM_152313 exon1 c.308+86A>T 0.306909 0.4097 Uncertain 11_92916228_G->A 11 92916228 92916228 G A snp 482.77 1/1 36 16 0 16 1.0 intronic rs10831001 SLC36A4 AU NM_152313 exon8 c.34358+168G>A 0.306709 0.4087 Uncertain 11_92916271_A->T 11 92916271 92916271 A T snp 182.9 1/1 15 5 0 5 1.0 intronic rs7925273 SLC36A4 AU NM_152313 exon8 c.34358+211A>T 0.932708 1 Uncertain 11_92916282_A->G 11 92916282 92916282 A G snp 180.9 1/1 15 5 0 5 1.0 intronic rs10831002 SLC36A4 AU NM_152313 exon8 c.34358+222A>G 0.306909 0.4097 Uncertain 11_92917472_C->A 11 92917472 92917472 C A snp 460.77 1/1 36 14 0 14 1.0 intronic rs11020191 SLC36A4 AU NM_152313 exon9 c.35893-123C>A 0.264976 0.4048 Uncertain 11_92931056_G->T 11 92931056 92931056 G T snp 716.77 1/1 54 25 0 25 1.0 UTR5 rs11020196 SLC36A4 AU 0.264776 0.4127 Uncertain 11_92931057_C->T 11 92931057 92931057 C T snp 676.77 1/1 51 23 0 23 1.0 UTR5 rs11020197 SLC36A4 AU 0.264776 0.4127 Uncertain 11_93097210_C->G 11 93097210 93097210 C G snp 52.74 1/1 6 2 0 2 1.0 intronic rs975916 CCDC67 AU NM_181645 exon5 c.31900-115C>G 0.419329 0.497 Uncertain 11_93118515_G->A 11 93118515 93118515 G A snp 1174.77 1/1 84 42 0 42 1.0 intronic rs3020057 CCDC67 AU NM_181645 exon8 c.53138-48G>A 0.827875 0.9008 0.793694 0.8034 0.8917 Uncertain 11_93122446_T->A 11 93122446 93122446 T A snp 139.03 1/1 12 4 0 4 1.0 intronic rs3020056 CCDC67 AU NM_181645 exon9 c.56866+155T>A 0.447085 0.5486 Uncertain 11_93122447_C->A 11 93122447 93122447 C A snp 136.03 1/1 12 4 0 4 1.0 intronic rs3020055 CCDC67 AU NM_181645 exon9 c.56866+156C>A 0.457468 0.5635 Uncertain 11_93129585_G->T 11 93129585 93129585 G T snp 726.77 0/1 99 57 28 29 0.51 intronic rs78419283 CCDC67 AU NM_181645 exon11 c.64066+94G>T 0.013778 0.0685 Uncertain 11_93141580_C->A 11 93141580 93141580 C A snp 1177.77 1/1 84 39 0 39 1.0 exonic rs2259633 CCDC67 AU nonsynonymous SNV NM_181645 exon12 c.C1510A p.Q504K 0.829473 0.9018 0.794765 0.7973 0.8861 1 T 0.0 P -1.001 T 0.0 T 0.0 T Pathogenic 11_93148423_C->T 11 93148423 93148423 C T snp 176.9 1/1 15 5 0 5 1.0 intronic rs2658777 CCDC67 AU NM_181645 exon13 c.82855+143C>T 0.846246 0.9067 Uncertain 11_93170925_G->A 11 93170925 93170925 G A snp 129.03 1/1 12 5 0 5 1.0 UTR3 rs2605584 CCDC67 AU 0.52516 0.4405 0.614194 0.5233 0.4340 Uncertain 11_93212161_A->G 11 93212161 93212161 A G snp 7569.77 1/1 99 250 0 250 1.0 UTR3 rs2605594 SMCO4 AU 0.777157 0.9831 0.656558 0.7405 0.9899 Uncertain 11_93212254_C->T 11 93212254 93212254 C T snp 7551.77 1/1 99 246 0 246 1.0 exonic rs2658797 SMCO4 AU synonymous SNV NM_020179 exon3 c.G102A p.V34V 0.699281 0.9435 0.538698 0.6051 0.9485 Uncertain 11_93400052_G->A 11 93400052 93400052 G A snp 266.8 1/1 21 10 0 10 1.0 intronic rs7123801 CEP295 AU NM_033395 exon2 c.108+71G>A 0.951877 1 Uncertain 11_93402096_C->A 11 93402096 93402096 C A snp 338.78 1/1 27 11 0 11 1.0 exonic rs1944101 CEP295 AU synonymous SNV NM_033395 exon4 c.C432A p.T144T 0.884385 0.9395 0.9592 0.9614 Uncertain 11_93402693_A->G 11 93402693 93402693 A G snp 135.03 1/1 12 5 0 5 1.0 intronic rs10765621 CEP295 AU NM_033395 exon5 c.2969-149A>G 0.908546 0.995 Uncertain 11_93403067_G->A 11 93403067 93403067 G A snp 337.78 1/1 27 9 0 9 1.0 intronic rs1954994 CEP295 AU NM_033395 exon5 c.3063+131G>A 0.881589 0.9395 Uncertain 11_93408831_G->A 11 93408831 93408831 G A snp 3195.8 1/1 99 125 0 125 1.0 exonic rs10831088 CEP295 AU nonsynonymous SNV NM_033395 exon6 c.G623A p.R208Q 0.908746 0.995 0.920499 0.9627 0.9984 1 T 1.0 P -0.966 T 0.001 T 0.0 T Pathogenic 11_93408958_-->A 11 93408958 93408958 - A indel 521.73 1/1 45 16 0 16 1.0 intronic rs35646565 CEP295 AU NM_033395 exon6 c.8959+126insA 0.875799 0.9524 Uncertain 11_93412774_A->G 11 93412774 93412774 A G snp 1602.77 1/1 99 47 0 47 1.0 intronic rs1944100 CEP295 AU NM_033395 exon7 c.12845+56A>G 0.885583 0.9395 Uncertain 11_93425159_C->A 11 93425159 93425159 C A snp 1961.77 1/1 99 77 0 77 1.0 exonic rs4753495 CEP295 AU nonsynonymous SNV NM_033395 exon12 c.C1496A p.A499E 0.908347 0.9931 0.920280 0.9617 0.9968 1 T 1.000 P -0.925 T 0.0 T 0.0 T Pathogenic 11_93454832_GTGTGT->- 11 93454832 93454837 GTGTGT - indel 2917.73 ./1 99 54 1 53 0.98 ncRNA_exonic rs752759263 SCARNA9 AU 0.1136 0.1527 Uncertain 11_93454832_GTGT->- 11 93454832 93454835 GTGT - indel 2917.73 ./1 99 54 1 53 0.98 ncRNA_exonic rs139561015 SCARNA9 AU 0.3259 0.3743 Uncertain 11_93460517_T->C 11 93460517 93460517 T C snp 1777.77 0/1 99 145 66 79 0.54 exonic CEP295 AU nonsynonymous SNV NM_033395 exon24 c.T6875C p.M2292T 0.32 T 1 N -0.963 T 0.021 T 0.022 T Pathogenic 11_93462102_G->C 11 93462102 93462102 G C snp 54.74 1/1 6 2 0 2 1.0 intronic rs1944099 CEP295 AU NM_033395 exon25 c.62114+115G>C 0.906949 0.995 Uncertain 11_93462607_A->T 11 93462607 93462607 A T snp 1998.77 1/1 99 68 0 68 1.0 exonic rs7131178 CEP295 AU nonsynonymous SNV NM_033395 exon26 c.A7310T p.E2437V 0.652157 0.6677 0.681559 0.7797 0.6949 0.67 T 0.0 P -0.986 T 0.102 T 0.049 T Pathogenic 11_93463145_-->T 11 93463145 93463145 - T indel 505.73 0/1 99 96 17 79 0.82 intronic rs200136546 CEP295 AU NM_033395 exon28 c.63262+10insT 0.1950 0.3051 Uncertain 11_93463332_A->G 11 93463332 93463332 A G snp 1056.77 1/1 78 46 1 45 0.98 intronic rs7101779 CEP295 AU NM_033395 exon29 c.63441+18A>G 0.911342 0.995 0.923565 0.9640 0.9984 Uncertain 11_93463666_C->A 11 93463666 93463666 C A snp 978.77 1/1 69 39 0 39 1.0 downstream rs7119918 CEP295 AU 0.988219 1 0.993538 0.9981 1 Uncertain 11_93464175_A->C 11 93464175 93464175 A C snp 3299.77 1/1 99 121 0 121 1.0 ncRNA_exonic rs1944108 SNORA32 AU 0.370407 0.4048 0.359413 0.4035 0.4348 Uncertain 11_93466866_G->T 11 93466866 93466866 G T snp 2073.77 1/1 99 72 1 71 0.99 ncRNA_exonic rs2155248 MIR1304 AU 0.879193 0.9385 0.902200 0.9601 0.9353 Uncertain 11_93474570_-->GCGTGA 11 93474570 93474570 - GCGTGA indel 22570.7 1/1 99 246 0 246 1.0 UTR5 rs11280945 TAF1D AU 0.906749 0.994 0.9784 1 Uncertain 11_93474678_G->C 11 93474678 93474678 G C snp 5246.77 1/1 99 188 0 188 1.0 UTR5 rs630648 TAF1D AU 0.89397 0.9385 0.9771 0.9493 Uncertain 11_93474791_G->T 11 93474791 93474791 G T snp 521.77 1/1 39 16 0 16 1.0 UTR5 rs623510 C11orf54 AU 0.894768 0.9385 Uncertain 11_93474827_T->C 11 93474827 93474827 T C snp 141.03 1/1 12 4 0 4 1.0 UTR5 rs631116 C11orf54 AU 0.893171 0.9385 Uncertain 11_93480708_T->C 11 93480708 93480708 T C snp 227.84 1/1 18 8 0 8 1.0 intronic rs624856 C11orf54 AU NM_001286071 exon2 c.55+94T>C 0.538538 0.6161 Uncertain 11_93487008_G->A 11 93487008 93487008 G A snp 1230.77 1/1 90 36 0 36 1.0 intronic rs623993 C11orf54 AU NM_001286070 exon3 c.3408+87G>A 0.919728 1 Uncertain 11_93490682_T->A 11 93490682 93490682 T A snp 2198.77 1/1 99 76 1 75 0.99 intronic rs604414 C11orf54 AU NM_001286070 exon6 c.7118+51T>A 0.930112 1 Uncertain 11_93494879_AG->- 11 93494879 93494880 AG - indel 2427.73 1/1 99 58 0 58 1.0 UTR3 rs10552778 C11orf54 AU 0.517572 0.6161 0.501518 0.6057 0.6395 Uncertain 11_93517874_C->G 11 93517874 93517874 C G snp 2772.77 1/1 99 98 0 98 1.0 exonic rs7116967 MED17 AR synonymous SNV NM_004268 exon1 c.C195G p.G65G 0.565695 0.7411 0.545339 0.6174 0.7753 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000117608.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 11_93517886_G->C 11 93517886 93517886 G C snp 2593.77 1/1 99 95 0 95 1.0 exonic rs2848477 MED17 AR nonsynonymous SNV NM_004268 exon1 c.G207C p.E69D 0.565695 0.7411 0.550581 0.6183 0.7758 0.63 T 0.000 P -0.952 T 0.0 T 0.0 T CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000117609.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 11_93521405_C->T 11 93521405 93521405 C T snp 697.77 1/1 51 22 0 22 1.0 intronic rs676586 MED17 AR NM_004268 exon2 c.3654+72C>T 0.720447 0.7927 Uncertain 11_93527219_T->C 11 93527219 93527219 T C snp 3543.77 1/1 99 134 0 134 1.0 intronic rs657177 MED17 AR NM_004268 exon5 c.9522+18T>C 0.933107 1 0.939914 0.9826 1 Uncertain 11_93527283_A->- 11 93527283 93527283 A - indel 1861.73 1/1 99 57 0 57 1.0 intronic rs5793656 MED17 AR NM_004268 exon5 c.9522+82delA 1 1 Uncertain 11_93534930_T->G 11 93534930 93534930 T G snp 190.9 1/1 15 9 0 9 1.0 intronic rs35544640 MED17 AR NM_004268 exon9 c.17321-70T>G 0.933706 1 Uncertain 11_93534931_T->A 11 93534931 93534931 T A snp 214.84 1/1 18 9 0 9 1.0 intronic rs34875966 MED17 AR NM_004268 exon9 c.17321-69T>A 0.933706 1 Uncertain 11_93534932_C->T 11 93534932 93534932 C T snp 230.84 1/1 18 9 0 9 1.0 intronic rs35510332 MED17 AR NM_004268 exon9 c.17321-68C>T 0.748602 0.7917 Uncertain 11_93534990_G->A 11 93534990 93534990 G A snp 747.77 1/1 54 25 0 25 1.0 intronic rs655699 MED17 AR NM_004268 exon9 c.17321-10G>A 0.527556 0.7401 0.489304 0.6075 0.7430 Uncertain 11_93583404_T->G 11 93583404 93583404 T G snp 67.77 0/1 96 6 3 3 0.5 intronic rs71460609 VSTM5 AU NM_001144871 exon4 c.29843-173T>G 0.131789 0.1022 Uncertain 11_93583493_G->C 11 93583493 93583493 G C snp 398.77 0/1 99 43 24 19 0.44 intronic rs112543723 VSTM5 AU NM_001144871 exon4 c.29843-84G>C 0.132188 0.1022 Uncertain 11_93583529_C->T 11 93583529 93583529 C T snp 566.77 0/1 99 58 34 24 0.41 intronic rs113556447 VSTM5 AU NM_001144871 exon4 c.29843-48C>T 0.14377 0.1022 0.1202 0.1 Uncertain 11_93583790_T->G 11 93583790 93583790 T G snp 40.77 0/1 69 5 3 2 0.4 upstream rs10831106 VSTM5 AU 0.500998 0.6181 Uncertain 11_93754508_G->A 11 93754508 93754508 G A snp 234.77 0/1 99 32 19 13 0.41 UTR5 rs2511403 HEPHL1 AU 0.748403 0.7738 0.752091 0.8135 0.7856 Uncertain 11_93797619_A->G 11 93797619 93797619 A G snp 5220.77 1/1 99 194 0 194 1.0 exonic rs1945783 HEPHL1 AU nonsynonymous SNV NM_001098672 exon4 c.A751G p.N251D 0.910144 1 0.920527 0.9776 0.9997 1 T 0.0 P -0.920 T 0.0 T 0.001 T Pathogenic 11_93801012_C->T 11 93801012 93801012 C T snp 1296.77 1/1 96 42 0 42 1.0 intronic rs10765650 HEPHL1 AU NM_001098672 exon5 c.46382+96C>T 0.578275 0.6319 Uncertain 11_93801062_C->T 11 93801062 93801062 C T snp 350.78 1/1 27 13 0 13 1.0 intronic rs10765651 HEPHL1 AU NM_001098672 exon5 c.46382+146C>T 0.579273 0.6319 Uncertain 11_93803717_C->G 11 93803717 93803717 C G snp 1059.77 0/1 99 79 37 42 0.53 intronic rs1878799 HEPHL1 AU NM_001098672 exon6 c.49174+9C>G 0.789337 0.8085 0.854310 0.9329 0.8158 Uncertain 11_93806416_T->C 11 93806416 93806416 T C snp 4994.77 1/1 99 173 0 173 1.0 intronic rs1914725 HEPHL1 AU NM_001098672 exon8 c.51939-57T>C 0.989217 1 Uncertain 11_93806705_C->T 11 93806705 93806705 C T snp 499.77 1/1 39 13 0 13 1.0 intronic rs2949862 HEPHL1 AU NM_001098672 exon8 c.52071+100C>T 0.458666 0.5883 Uncertain 11_93808607_-->AC 11 93808607 93808607 - AC indel 224.87 1/1 15 5 0 5 1.0 intronic rs3060406 HEPHL1 AU NM_001098672 exon9 c.54017+56insAC 0.960463 1 Uncertain 11_93836266_G->C 11 93836266 93836266 G C snp 2002.77 1/1 99 73 0 73 1.0 intronic rs61905098 HEPHL1 AU NM_001098672 exon15 c.81652+80G>C 0.124601 0.2381 Uncertain 11_93911856_C->T 11 93911856 93911856 C T snp 95.77 0/1 99 12 8 4 0.33 intronic rs2282655 PANX1 AU NM_015368 exon3 c.49280+98C>T 0.116813 0.1736 Uncertain 11_93913036_A->G 11 93913036 93913036 A G snp 1856.77 0/1 99 174 96 78 0.45 exonic rs12793348 PANX1 AU nonsynonymous SNV NM_015368 exon4 c.A814G p.I272V 0.140575 0.2609 0.100708 0.1045 0.2543 1 T 0.012 P -0.953 T 0.0 T 0.002 T Pathogenic 11_93913458_T->C 11 93913458 93913458 T C snp 1418.77 1/1 99 47 0 47 1.0 intronic rs3020015 PANX1 AU NM_015368 exon4 c.50945+35T>C 0.734625 0.749 0.686009 0.6767 0.7311 Uncertain 11_93914129_A->G 11 93914129 93914129 A G snp 2032.77 0/1 99 144 56 88 0.61 UTR3 rs12800562 PANX1 AU 0.123602 0.2063 Uncertain 11_94038849_CCACCTG->- 11 94038849 94038855 CCACCTG - indel 4391.73 0/1 99 70 26 44 0.63 exonic IZUMO1R AU frameshift deletion NM_001199206 exon1 c.47_53del p.P16fs Pathogenic 11_94040156_C->T 11 94040156 94040156 C T snp 185.9 1/1 15 6 0 6 1.0 intronic rs569781 IZUMO1R AU NM_001199206 exon3 c.1528-174C>T 0.436701 0.6141 Uncertain 11_94134472_A->C 11 94134472 94134472 A C snp 147.77 0/1 99 9 4 5 0.56 UTR5 rs3824878 GPR83 AU 0.682907 0.7272 Uncertain 11_94179125_T->C 11 94179125 94179125 T C snp 1005.77 0/1 99 65 23 42 0.65 intronic rs1014666 MRE11A AU NM_005591 exon5 c.25769+66T>C 0.517173 0.505 Uncertain 11_94194303_G->T 11 94194303 94194303 G T snp 206.8 0/1 21 9 1 8 0.89 intronic rs529126 MRE11A AU NM_005591 exon9 c.40912+101G>T 0.308107 0.3125 Uncertain 11_94197260_A->G 11 94197260 94197260 A G snp 77.77 0/1 99 7 4 3 0.43 intronic rs641936 MRE11A AU NM_005591 exon10 c.43988-18A>G 0.388778 0.4028 0.352131 0.3783 0.4152 Uncertain 11_94197568_C->T 11 94197568 94197568 C T snp 436.77 0/1 99 32 17 15 0.47 intronic rs640627 MRE11A AU NM_005591 exon10 c.44115+163C>T 0.314896 0.3125 Uncertain 11_94203868_A->T 11 94203868 94203868 A T snp 1731.77 0/1 99 149 80 69 0.46 intronic rs610611 MRE11A AU NM_005591 exon12 c.50518+60A>T 0.724441 0.7173 Uncertain 11_94212048_C->T 11 94212048 94212048 C T snp 677.77 0/1 99 69 36 33 0.48 splicing rs535801 MRE11A AU NM_005591 exon15 c.58752+6C>T 0.313099 0.3859 0.269580 0.3252 0.4058 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000117634.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 11_94212154_A->G 11 94212154 94212154 A G snp 257.77 0/1 99 25 14 11 0.44 intronic rs680695 MRE11A AU NM_005591 exon15 c.58752+112A>G 0.313099 0.3859 Uncertain 11_94223855_A->G 11 94223855 94223855 A G snp 174.9 1/1 15 5 0 5 1.0 intronic rs608452 MRE11A AU NM_005591 exon18 c.70708-143A>G 0.961861 1 Uncertain 11_94225807_C->T 11 94225807 94225807 C T snp 140.77 0/1 99 19 12 7 0.37 intronic rs496797 MRE11A AU NM_005591 exon19 c.72657-140C>T 0.552915 0.501 0.5766 0.5826 0.0 P Uncertain 11_94225920_C->T 11 94225920 94225920 C T snp 459.77 0/1 99 67 44 23 0.34 intronic rs497763 MRE11A AU NM_005591 exon19 c.72657-27C>T 0.457268 0.5 0.410140 0.4621 0.4990 Uncertain 11_94229665_A->G 11 94229665 94229665 A G snp 118.77 0/1 99 9 4 5 0.56 intronic rs540199 ANKRD49 AU 0.323482 0.3869 Uncertain 11_94231257_C->G 11 94231257 94231257 C G snp 365.77 0/1 99 27 14 13 0.48 exonic rs2509943 ANKRD49 AU synonymous SNV NM_017704 exon3 c.C279G p.L93L 0.547524 0.5208 0.589783 0.5411 0.5156 Uncertain 11_94245740_A->G 11 94245740 94245740 A G snp 277.77 0/1 99 19 7 12 0.63 exonic rs2509324 C11orf97 AU nonsynonymous SNV NM_001190462 exon1 c.A46G p.K16E 0.53095 0.5565 0.6118 0.6552 Pathogenic 11_94250684_A->G 11 94250684 94250684 A G snp 173.77 0/1 99 21 14 7 0.33 intronic rs582049 C11orf97 AU NM_001190462 exon2 c.5054-64A>G 0.53774 0.5556 Uncertain 11_94250709_T->A 11 94250709 94250709 T A snp 471.77 0/1 99 36 18 18 0.5 intronic rs582077 C11orf97 AU NM_001190462 exon2 c.5054-39T>A 0.53774 0.5556 0.4481 0.5567 Uncertain 11_94261255_C->G 11 94261255 94261255 C G snp 604.77 0/1 99 67 37 30 0.45 exonic rs647484 C11orf97 AU nonsynonymous SNV NM_001190462 exon3 c.C256G p.L86V 0.675919 0.6617 0.6083 0.6313 Pathogenic 11_94264927_T->A 11 94264927 94264927 T A snp 1134.77 0/1 99 112 58 54 0.48 intronic rs595672 C11orf97 AU NM_001190462 exon4 c.19367-134T>A 0.270367 0.2996 Uncertain 11_94474045_T->- 11 94474045 94474045 T - indel 3383.73 1/1 99 77 0 77 1.0 intergenic rs11300560 PIWIL4 AU 1 1 Uncertain 11_94501849_G->A 11 94501849 94501849 G A snp 929.77 1/1 69 27 0 27 1.0 intronic rs2915239 AMOTL1 AU NM_130847 exon1 c.49+123G>A 0.768371 0.7282 Uncertain 11_94699369_TG->- 11 94699369 94699370 TG - indel 349.73 0/1 99 14 5 9 0.64 intronic rs372118772 CWC15 AU NM_016403 exon2 c.2910-90_2910-89delTG 0.0255591 0.0377 Uncertain 11_94699391_-->AC 11 94699391 94699391 - AC indel 398.73 0/1 99 23 9 14 0.61 intronic CWC15 AU NM_016403 exon2 c.2910-68insAC Uncertain 11_94699507_-->T 11 94699507 94699507 - T indel 2423.73 1/1 99 59 0 59 1.0 exonic rs34805065 CWC15 AU unknown 1 1 1.0000 1 Uncertain 11_94704092_T->A 11 94704092 94704092 T A snp 4103.77 1/1 99 142 1 141 0.99 intronic CWC15 AU NM_016403 exon4 c.7591-48T>A 0.986821 1 0.989951 0.9967 1 Uncertain 11_94704094_G->A 11 94704094 94704094 G A snp 4177.77 1/1 99 144 0 144 1.0 intronic CWC15 AU NM_016403 exon4 c.7591-46G>A 0.986821 1 0.990041 0.9967 1 Uncertain 11_94731759_G->A 11 94731759 94731759 G A snp 3099.77 0/1 99 250 126 124 0.5 exonic KDM4D AU nonsynonymous SNV NM_018039 exon3 c.G1223A p.R408Q 0.320487 0.6468 0.188567 0.2875 0.6833 0.58 T 0.0 P -0.949 T 0.294 T 0.033 T Pathogenic 11_94758710_T->C 11 94758710 94758710 T C snp 948.77 0/1 99 138 93 45 0.33 UTR5 KDM4E AU 0.184845 0.2773 0.5268 Uncertain 11_94758838_C->T 11 94758838 94758838 C T snp 2633.77 0/1 99 235 128 107 0.46 exonic KDM4E AU synonymous SNV NM_001161630 exon1 c.C117T p.G39G 0.119409 0.3472 0.038108 0.1905 0.6214 Uncertain 11_94759059_A->G 11 94759059 94759059 A G snp 4283.77 1/1 99 220 29 191 0.87 exonic KDM4E AU nonsynonymous SNV NM_001161630 exon1 c.A338G p.Q113R 0.876398 0.9762 0.8463 0.9911 0.52 T 0.0 P -0.991 T 0.0 T 0.0 T Pathogenic 11_94782549_G->C 11 94782549 94782549 G C snp 97.78 0/1 27 7 1 6 0.86 intergenic KDM4E AU Uncertain 11_94782556_T->G 11 94782556 94782556 T G snp 170.8 0/1 21 9 1 8 0.89 intergenic KDM4E AU Uncertain 11_94800902_-->C 11 94800902 94800902 - C indel 10476.7 1/1 99 249 0 249 1.0 exonic rs5793709 SRSF8 AU unknown 0.9998 0.999 0.999832 1 1 Uncertain 11_94822977_T->C 11 94822977 94822977 T C snp 141.03 1/1 12 4 0 4 1.0 UTR5 ENDOD1 AU 0.301518 0.7004 Uncertain 11_94823448_A->T 11 94823448 94823448 A T snp 982.77 1/1 75 26 0 26 1.0 intronic ENDOD1 AU NM_015036 exon1 c.300+57A>T 1 1 Uncertain 11_94861491_C->T 11 94861491 94861491 C T snp 179.77 0/1 99 15 8 7 0.47 intronic rs599281 ENDOD1 AU NM_015036 exon2 c.38449-49C>T 0.416334 0.6438 0.380029 0.4350 0.6265 Uncertain 11_94924774_-->A 11 94924774 94924774 - A indel 269.73 0/1 99 60 37 23 0.38 intronic rs150790532 SESN3 AU NM_001271594 exon7 c.18347+9insA 0.13119 0.3115 0.039058 0.0705 0.3121 Uncertain 11_94926574_G->A 11 94926574 94926574 G A snp 181.77 0/1 99 25 16 9 0.36 intronic rs583928 SESN3 AU NM_001271594 exon8 c.20202-46G>A 0.126398 0.3046 0.031066 0.0611 0.2770 Uncertain 11_94963937_G->A 11 94963937 94963937 G A snp 2206.77 0/1 99 197 92 105 0.53 ncRNA_intronic rs4753658 LOC100129203 AU 0.145767 0.3522 0.028424 0.0945 0.3423 Uncertain 11_95509037_C->G 11 95509037 95509037 C G snp 189.77 0/1 99 26 15 11 0.42 intronic rs3789960 FAM76B AU NM_144664 exon2 c.4361-48C>G 0.204872 0.252 0.297449 0.3013 0.2743 Uncertain 11_95512060_A->G 11 95512060 95512060 A G snp 2189.77 0/1 99 193 96 97 0.5 exonic rs1150360 FAM76B AU synonymous SNV NM_144664 exon8 c.T754C p.L252L 0.577276 0.3433 0.616175 0.5212 0.3674 Uncertain 11_95519195_A->T 11 95519195 95519195 A T snp 684.77 0/1 99 42 21 21 0.5 intronic rs3748252 FAM76B AU NM_144664 exon7 c.14558-87A>T 0.271366 0.2976 Uncertain 11_95519506_G->A 11 95519506 95519506 G A snp 668.77 0/1 99 42 20 22 0.52 intronic rs3748253 FAM76B AU NM_144664 exon7 c.14714+68G>A 0.271366 0.2976 Uncertain 11_95520695_T->C 11 95520695 95520695 T C snp 408.77 0/1 99 31 17 14 0.45 intronic rs1313288 FAM76B AU NM_144664 exon8 c.16063-92T>C 0.575479 0.3442 Uncertain 11_95521648_A->G 11 95521648 95521648 A G snp 1034.77 0/1 99 82 37 45 0.55 intronic rs1727165 FAM76B AU NM_144664 exon9 c.16938-14A>G 0.577276 0.3433 0.613385 0.5215 0.3688 Uncertain 11_95521953_A->G 11 95521953 95521953 A G snp 1009.77 0/1 99 77 36 41 0.53 intronic rs3748256 FAM76B AU NM_144664 exon9 c.17003+226A>G 0.205871 0.253 Uncertain 11_95524067_G->T 11 95524067 95524067 G T snp 1133.77 0/1 99 70 33 37 0.53 intronic rs12272061 CEP57 AR NM_014679 exon1 c.45+160G>T 0.271765 0.2976 Uncertain 11_95528663_-->T 11 95528663 95528663 - T indel 609.73 1/1 33 35 2 33 0.94 intronic rs397695008 CEP57 AR NM_014679 exon2 c.8533-3732insT 0.951677 0.9494 0.6369 0.625 Uncertain 11_95528714_C->T 11 95528714 95528714 C T snp 403.77 0/1 99 51 30 21 0.41 intronic rs522536 CEP57 AR NM_001243776 exon2 c.18-9C>T 0.271366 0.2976 0.2993 0.3016 Uncertain 11_95551136_C->T 11 95551136 95551136 C T snp 324.77 0/1 71 14 4 10 0.71 intronic rs666398 CEP57 AR NM_014679 exon5 c.27205+69C>T 0.271765 0.2976 Uncertain 11_95560853_A->G 11 95560853 95560853 A G snp 301.77 0/1 99 16 7 9 0.56 intronic rs598876 CEP57 AR NM_014679 exon9 c.37087-96A>G 0.205671 0.252 Uncertain 11_95562327_G->A 11 95562327 95562327 G A snp 899.77 0/1 99 97 57 40 0.41 intronic rs534488 CEP57 AR NM_014679 exon10 c.38488-23G>A 0.204872 0.253 0.293968 0.2970 0.2688 Uncertain 11_95564259_A->G 11 95564259 95564259 A G snp 915.77 0/1 99 73 34 39 0.53 exonic rs644799 CEP57 AR nonsynonymous SNV NM_014679 exon11 c.A1342G p.R448G 0.205871 0.253 0.294815 0.2976 0.2698 0 D 0.0 P -0.980 T 0.0 T 0.0 T Pathogenic 11_95569183_G->A 11 95569183 95569183 G A snp 440.77 0/1 99 27 13 14 0.52 intronic rs499637 MTMR2 AR NM_201281 exon2 c.858-128G>A 0.577276 0.3442 Uncertain 11_95569253_A->C 11 95569253 95569253 A C snp 1336.77 0/1 99 107 49 58 0.54 intronic rs627568 MTMR2 AR NM_201281 exon2 c.858-58A>C 0.205471 0.2569 Uncertain 11_95580926_G->A 11 95580926 95580926 G A snp 1846.77 0/1 99 145 67 78 0.54 exonic rs566204 MTMR2 AR synonymous SNV NM_016156 exon10 c.C1131T p.T377T 0.209265 0.253 0.298046 0.2980 0.2698 Uncertain 11_95583995_A->G 11 95583995 95583995 A G snp 125.78 0/1 27 5 1 4 0.8 intronic rs474442 MTMR2 AR NM_201281 exon8 c.15460+82A>G 0.203474 0.2569 Uncertain 11_95598629_A->G 11 95598629 95598629 A G snp 3083.77 1/1 99 112 0 112 1.0 intronic rs687559 MTMR2 AR NM_201281 exon13 c.30311-135A>G 0.58127 0.374 Uncertain 11_95657111_T->G 11 95657111 95657111 T G snp 1787.77 0/1 99 114 51 63 0.55 exonic rs3824874 MTMR2 AR nonsynonymous SNV NM_016156 exon1 c.A8C p.K3T 0.212859 0.2688 0.239819 0.2889 0.2487 0.01 T 1.000 P -1.089 T 0.039 T 0.014 T Pathogenic 11_95724658_C->G 11 95724658 95724658 C G snp 679.77 0/1 99 48 21 27 0.56 intronic rs488398 MAML2 AU NM_032427 exon3 c.12572-25C>G 0.325479 0.3383 0.302884 0.2990 0.3633 Uncertain 11_95825375_TGCTGCTGC->- 11 95825375 95825383 TGCTGCTGC - indel 3802.73 1/1 99 41 0 41 1.0 exonic rs141671766 MAML2 AU nonframeshift deletion NM_032427 exon2 c.1812_1820del p.604_607del 0.839257 0.8829 0.5901 0.7970 Uncertain 11_96074383_T->C 11 96074383 96074383 T C snp 921.77 0/1 99 42 16 26 0.62 intronic MAML2 AU NM_032427 exon5 c.362435-163T>C Uncertain 11_99428929_-->T 11 99428929 99428929 - T indel 1330.73 1/1 99 47 0 47 1.0 intronic rs11375374 CNTN5 AU NM_001243271 exon3 c.55+1929insT 0.944089 0.9931 0.9449 0.9818 Uncertain 11_99690286_T->G 11 99690286 99690286 T G snp 168.77 0/1 99 45 36 9 0.2 exonic rs10790978 CNTN5 AU nonsynonymous SNV NM_001243270 exon3 c.T67G p.S23A 0.4965 0.4244 1 T 0.000 P -1.005 T 0.0 T 0.0 T Pathogenic 11_99690376_C->T 11 99690376 99690376 C T snp 706.77 0/1 99 179 133 46 0.26 exonic rs12292659 CNTN5 AU stopgain NM_001243270 exon3 c.C157T p.R53X 0.235153 0.2630 0.2359 1 T 1.0 P Pathogenic 11_99690428_T->G 11 99690428 99690428 T G snp 746.77 0/1 99 205 158 47 0.23 exonic rs7125822 CNTN5 AU nonsynonymous SNV NM_001243270 exon3 c.T209G p.L70R 0.4849 0.4223 0.46 T 0.000 P -1.035 T 0.0 T 0.0 T Pathogenic 11_99873011_C->G 11 99873011 99873011 C G snp 40.77 0/1 33 3 1 2 0.67 intronic rs7926332 CNTN5 AU NM_001243271 exon9 c.445923+143C>G 0.344848 0.1171 Uncertain 11_99941322_C->T 11 99941322 99941322 C T snp 1482.77 1/1 99 53 0 53 1.0 intronic rs2059014 CNTN5 AU NM_001243271 exon11 c.514347+30C>T 0.890974 0.994 0.802520 0.7932 0.9964 Uncertain 11_100061827_-->A 11 100061827 100061827 - A indel 1493.73 1/1 99 52 0 52 1.0 intronic rs3031278 CNTN5 AU NM_001243271 exon14 c.634912-30insA 0.206869 0.2996 0.236225 0.2497 0.3180 Uncertain 11_100168289_C->T 11 100168289 100168289 C T snp 4583.77 1/1 99 163 0 163 1.0 intronic rs1944178 CNTN5 AU NM_001243271 exon19 c.741411-67C>T 0.903954 1 Uncertain 11_100168320_-->C 11 100168320 100168320 - C indel 10772.7 1/1 99 240 0 240 1.0 intronic rs75986029 CNTN5 AU NM_001243271 exon19 c.741411-36insC 0.872204 1 0.850497 0.9071 1 Uncertain 11_100169829_A->G 11 100169829 100169829 A G snp 332.78 1/1 27 13 0 13 1.0 intronic rs1944180 CNTN5 AU NM_001243271 exon20 c.742948-64A>G 0.655551 0.7401 Uncertain 11_100211032_T->G 11 100211032 100211032 T G snp 169.77 0/1 99 15 7 8 0.53 intronic rs12289431 CNTN5 AU NM_001243270 exon21 c.784249-162T>G 0.207268 0.0556 Uncertain 11_100226773_A->G 11 100226773 100226773 A G snp 2019.77 0/1 99 161 82 79 0.49 intronic rs10894795 CNTN5 AU NM_001243270 exon24 c.799902-74A>G 0.229633 0.0764 Uncertain 11_100730087_G->A 11 100730087 100730087 G A snp 934.77 1/1 69 27 0 27 1.0 intronic rs661237 ARHGAP42 AU NM_152432 exon4 c.171875-197G>A 0.711861 0.7202 Uncertain 11_100730213_G->A 11 100730213 100730213 G A snp 2929.77 1/1 99 117 0 117 1.0 intronic rs646392 ARHGAP42 AU NM_152432 exon4 c.171875-71G>A 1 1 Uncertain 11_100804088_A->G 11 100804088 100804088 A G snp 1072.77 1/1 78 36 0 36 1.0 intronic rs626529 ARHGAP42 AU NM_152432 exon7 c.245582+97A>G 0.770567 0.7421 Uncertain 11_100807130_T->C 11 100807130 100807130 T C snp 1525.77 0/1 99 149 82 67 0.45 intronic rs581921 ARHGAP42 AU NM_152432 exon8 c.248654+67T>C 0.617412 0.4821 Uncertain 11_100811575_AT->- 11 100811575 100811576 AT - indel 3510.73 1/1 99 74 0 74 1.0 intronic rs35159175 ARHGAP42 AU NM_152432 exon9 c.254105-939_254105-938delAT 0.915735 0.999 Uncertain 11_100811690_G->T 11 100811690 100811690 G T snp 311.78 1/1 24 9 0 9 1.0 intronic rs661973 ARHGAP42 AU NM_152432 exon9 c.254105-824G>T 0.826078 0.7331 Uncertain 11_100812340_G->C 11 100812340 100812340 G C snp 317.78 1/1 24 12 0 12 1.0 intronic rs115231499 ARHGAP42 AU NM_152432 exon9 c.254105-174G>C 0.916134 0.999 Uncertain 11_100812342_C->G 11 100812342 100812342 C G snp 317.78 1/1 24 12 0 12 1.0 intronic rs116663671 ARHGAP42 AU NM_152432 exon9 c.254105-172C>G 0.916134 0.999 Uncertain 11_100812345_TCTACCCTAT->- 11 100812345 100812354 TCTACCCTAT - indel 1319.73 1/1 36 12 0 12 1.0 intronic rs66897134 ARHGAP42 AU NM_152432 exon9 c.254105-169_254105-160delTCTACCCTAT 0.916134 0.999 Uncertain 11_100812425_G->A 11 100812425 100812425 G A snp 571.77 0/1 36 25 3 22 0.88 intronic rs74939980 ARHGAP42 AU NM_152432 exon9 c.254105-89G>A 0.0161741 0.0506 ID=COSN164032;OCCURENCE=1(breast) Uncertain 11_100812751_T->C 11 100812751 100812751 T C snp 96.28 1/1 9 3 0 3 1.0 intronic rs693760 ARHGAP42 AU NM_152432 exon9 c.254206+136T>C 0.915935 0.999 Uncertain 11_100814409_G->A 11 100814409 100814409 G A snp 2589.77 1/1 99 100 0 100 1.0 intronic rs619066 ARHGAP42 AU NM_152432 exon10 c.256080-80G>A 0.915535 0.999 Uncertain 11_100814570_A->G 11 100814570 100814570 A G snp 1557.77 1/1 99 50 0 50 1.0 exonic rs543146 ARHGAP42 AU synonymous SNV NM_152432 exon10 c.A1014G p.R338R 0.410942 0.7312 0.259965 0.3869 0.7468 Uncertain 11_100814609_G->T 11 100814609 100814609 G T snp 847.77 1/1 63 22 0 22 1.0 intronic rs618155 ARHGAP42 AU NM_152432 exon10 c.256190+10G>T 0.915535 0.999 0.870346 0.8826 0.9968 Uncertain 11_100819305_T->C 11 100819305 100819305 T C snp 1080.77 1/1 75 47 0 47 1.0 intronic rs633967 ARHGAP42 AU NM_152432 exon11 c.260857+39T>C 0.915535 0.999 0.871441 0.8829 0.9968 Uncertain 11_100819392_A->G 11 100819392 100819392 A G snp 267.8 1/1 21 8 0 8 1.0 intronic rs504081 ARHGAP42 AU NM_152432 exon11 c.260857+126A>G 0.904153 0.999 Uncertain 11_100820725_A->T 11 100820725 100820725 A T snp 540.77 1/1 42 15 0 15 1.0 intronic rs694556 ARHGAP42 AU NM_152432 exon12 c.262278+38A>T 0.915535 0.999 0.8835 0.9965 Uncertain 11_100827131_T->A 11 100827131 100827131 T A snp 478.77 1/1 36 13 0 13 1.0 intronic rs534623 ARHGAP42 AU NM_152432 exon13 c.272204-3482T>A 0.915335 0.999 Uncertain 11_100827327_AATAT->- 11 100827327 100827331 AATAT - indel 11941.7 1/1 99 163 0 163 1.0 intronic rs10604932 ARHGAP42 AU NM_152432 exon13 c.272204-3286_272204-3282delAATAT 0.915335 0.999 Uncertain 11_100830693_T->C 11 100830693 100830693 T C snp 614.77 1/1 48 16 0 16 1.0 intronic rs563460 ARHGAP42 AU NM_152432 exon13 c.272267+17T>C 0.827476 0.7302 0.842313 0.8399 0.7484 Uncertain 11_100833059_A->G 11 100833059 100833059 A G snp 1038.77 1/1 75 36 0 36 1.0 intronic rs540866 ARHGAP42 AU NM_152432 exon16 c.274730-80A>G 0.409744 0.7302 Uncertain 11_100846936_A->G 11 100846936 100846936 A G snp 1044.77 1/1 78 28 0 28 1.0 exonic rs654593 ARHGAP42 AU synonymous SNV NM_152432 exon20 c.A2004G p.P668P 0.573882 0.997 0.409987 0.5221 0.9968 Uncertain 11_100847050_A->G 11 100847050 100847050 A G snp 1280.77 1/1 93 37 0 37 1.0 exonic rs569270 ARHGAP42 AU synonymous SNV NM_152432 exon20 c.A2118G p.S706S 0.560104 0.997 0.399693 0.5167 0.9952 Uncertain 11_100847069_G->A 11 100847069 100847069 G A snp 1664.77 1/1 99 52 0 52 1.0 exonic rs569336 ARHGAP42 AU nonsynonymous SNV NM_152432 exon20 c.G2137A p.V713I 0.496206 0.997 0.283399 0.4214 0.9968 0.24 T 0.0 P -0.969 T 0.0 T 0.0 T Pathogenic 11_100847749_A->G 11 100847749 100847749 A G snp 2621.77 1/1 99 103 0 103 1.0 intronic rs575734 ARHGAP42 AU NM_152432 exon21 c.289293+47A>G 0.385783 0.6835 0.231275 0.3629 0.6834 Uncertain 11_100847830_A->- 11 100847830 100847830 A - indel 1326.73 1/1 90 37 0 37 1.0 intronic rs3216738 ARHGAP42 AU NM_152432 exon21 c.289293+128delA 0.385783 0.6835 Uncertain 11_100849673_A->C 11 100849673 100849673 A C snp 1015.77 1/1 75 28 0 28 1.0 intronic rs10791440 ARHGAP42 AU NM_152432 exon22 c.291308-44A>C 0.385184 0.6835 0.228866 0.3630 0.6887 Uncertain 11_100856632_T->C 11 100856632 100856632 T C snp 503.77 0/1 99 52 31 21 0.4 intronic rs629813 ARHGAP42 AU NM_152432 exon23 c.299834-1611T>C 0.279952 0.4683 Uncertain 11_100856955_C->T 11 100856955 100856955 C T snp 305.78 1/1 24 10 0 10 1.0 intronic rs551632 ARHGAP42 AU NM_152432 exon23 c.299834-1288C>T 0.474241 0.9425 Uncertain 11_100858061_T->G 11 100858061 100858061 T G snp 62.77 0/1 91 11 8 3 0.27 intronic rs3740749 ARHGAP42 AU NM_152432 exon23 c.299834-182T>G 0.176717 0.371 Uncertain 11_100859235_G->A 11 100859235 100859235 G A snp 56.74 1/1 6 2 0 2 1.0 intronic rs522988 ARHGAP42 AU NM_152432 exon24 c.301034-208G>A 0.92472 0.998 Uncertain 11_100859439_G->A 11 100859439 100859439 G A snp 1037.77 0/1 99 113 64 49 0.43 splicing rs524811 ARHGAP42 AU NM_152432 exon24 c.301034-4G>A 0.210663 0.3879 0.112790 0.1997 0.3947 Pathogenic 11_100863096_A->G 11 100863096 100863096 A G snp 7237.77 1/1 99 250 0 250 1.0 exonic rs515552 TMEM133 AU synonymous SNV NM_032021 exon1 c.A57G p.E19E 0.388179 0.7579 0.184530 0.3165 0.7444 Uncertain 11_100863354_C->A 11 100863354 100863354 C A snp 6636.77 1/1 99 245 1 244 1.0 exonic rs471933 TMEM133 AU synonymous SNV NM_032021 exon1 c.C315A p.V105V 0.384984 0.756 0.181608 0.3108 0.7431 Uncertain 11_100909809_A->G 11 100909809 100909809 A G snp 483.77 0/1 99 37 18 19 0.51 UTR3 rs484389 PGR AR 0.261781 0.2133 0.286188 0.2407 0.2308 Uncertain 11_100909991_T->C 11 100909991 100909991 T C snp 1576.77 0/1 99 131 64 67 0.51 exonic rs500760 PGR AR synonymous SNV NM_000926 exon8 c.A2658G p.Q886Q 0.261581 0.2133 0.290757 0.2415 0.2297 Uncertain 11_100910132_T->C 11 100910132 100910132 T C snp 48.74 1/1 6 2 0 2 1.0 intronic rs499699 PGR AR NM_001271161 exon1 c.156+130T>C 0.298922 0.2133 Uncertain 11_100912561_C->A 11 100912561 100912561 C A snp 38.77 0/1 67 5 3 2 0.4 intronic rs572698 PGR AR NM_001271161 exon2 c.2829-114C>A 0.260982 0.2133 Uncertain 11_100920575_A->T 11 100920575 100920575 A T snp 351.77 0/1 99 16 5 11 0.69 intronic rs526487 PGR AR NM_001271161 exon3 c.10813-84A>T 0.2502 0.2153 Uncertain 11_100921665_C->A 11 100921665 100921665 C A snp 56.77 0/1 85 21 17 4 0.19 intronic rs645213 PGR AR NM_001271161 exon4 c.12308-489C>A 0.242212 0.2133 0.2000 0.2097 Uncertain 11_100922112_A->G 11 100922112 100922112 A G snp 230.77 0/1 99 27 18 9 0.33 intronic rs657516 PGR AR NM_001271161 exon4 c.12308-42A>G 0.0864617 0.1825 0.068671 0.0783 0.1974 Uncertain 11_100922404_A->T 11 100922404 100922404 A T snp 46.77 0/1 70 5 2 3 0.6 intronic rs578029 PGR AR NM_001271161 exon4 c.12453+105A>T 0.773762 0.997 Uncertain 11_100922451_T->A 11 100922451 100922451 T A snp 40.77 0/1 31 3 1 2 0.67 intronic rs573096 PGR AR NM_001271161 exon4 c.12453+152T>A 0.244808 0.2133 Uncertain 11_100999838_-->G 11 100999838 100999838 - G indel 1508.73 1/1 99 41 0 41 1.0 ncRNA_exonic rs11437764 LOC101054525 AU 0.996805 1 0.998001 0.9997 0.9955 Uncertain 11_101374626_G->A 11 101374626 101374626 G A snp 160.77 0/1 99 17 10 7 0.41 intronic rs4542378 TRPC6 AU NM_004621 exon12 c.51069-128G>A 0.404952 0.1944 Uncertain 11_101375549_T->C 11 101375549 101375549 T C snp 540.77 0/1 99 29 10 19 0.66 intronic rs10501986 TRPC6 AU NM_004621 exon12 c.51844+20T>C 0.404752 0.1944 0.476194 0.4216 0.1838 Uncertain 11_101453995_C->T 11 101453995 101453995 C T snp 964.77 0/1 99 70 33 37 0.53 intronic rs17096918 TRPC6 AU NM_004621 exon13 c.130379-69C>T 0.19369 0.4444 Uncertain 11_101771248_G->A 11 101771248 101771248 G A snp 4047.77 1/1 99 158 0 158 1.0 exonic rs3858418 ANGPTL5 AU nonsynonymous SNV NM_178127 exon7 c.C574T p.R192W 0.996805 1 0.995078 0.9928 1 1 T 0.002 P -0.874 T 0.0 T 0.0 T Pathogenic 11_101832478_G->T 11 101832478 101832478 G T snp 690.77 1/1 51 24 0 24 1.0 exonic rs7926728 KIAA1377 AU nonsynonymous SNV NM_020802 exon6 c.G712T p.G238C 1 1 1 1 0.38 T 0.001 P -1.014 T 0.0 T 0.0 T Pathogenic 11_101833644_C->T 11 101833644 101833644 C T snp 2827.77 1/1 99 93 0 93 1.0 exonic rs7109233 KIAA1377 AU synonymous SNV NM_020802 exon6 c.C1878T p.T626T 0.98722 1 0.980373 0.9815 0.9999 Uncertain 11_101857758_G->A 11 101857758 101857758 G A snp 519.77 1/1 39 16 0 16 1.0 exonic rs6590942 KIAA1377 AU nonsynonymous SNV NM_020802 exon9 c.G3230A p.S1077N 0.98742 1 0.980544 0.9815 0.9995 1 T 0.000 P -0.986 T 0.0 T 0.0 T Pathogenic 11_101918327_A->G 11 101918327 101918327 A G snp 3766.77 1/1 99 130 0 130 1.0 intronic rs12804542 C11orf70 AU NM_001195005 exon1 c.110+16A>G 0.967252 1 0.9702 1 Uncertain 11_101984718_A->G 11 101984718 101984718 A G snp 374.77 1/1 30 11 0 11 1.0 intronic rs2033082 YAP1 AD NM_006106 exon2 c.3295-156A>G 0.402356 0.3393 Uncertain 11_102079986_G->A 11 102079986 102079986 G A snp 141.03 1/1 12 4 0 4 1.0 intronic rs7107909 YAP1 AD NM_001195045 exon6 c.95160-261G>A 0.434505 0.4137 Uncertain 11_102207024_C->T 11 102207024 102207024 C T snp 36.77 0/1 65 12 8 4 0.33 intronic rs7124969 BIRC3 AU NM_001165 exon7 c.11711+73C>T 0.711462 0.7282 Uncertain 11_102207851_G->A 11 102207851 102207851 G A snp 294.77 0/1 99 25 14 11 0.44 UTR3 rs1055088 BIRC3 AU 0.65635 0.7242 0.636636 0.6635 0.7024 Uncertain 11_102248377_C->T 11 102248377 102248377 C T snp 1084.77 0/1 99 98 51 47 0.48 exonic rs34510872 BIRC2 AU nonsynonymous SNV NM_001166 exon7 c.C1517T p.A506V 0.0239617 0.038686 0.0488 0 0.07 T 1.000 D -1.120 T 0.442 T 0.363 T Pathogenic 11_102269398_G->- 11 102269398 102269398 G - indel 167.87 1/1 15 5 0 5 1.0 UTR3 rs398017349 TMEM123 AU 0.991613 1 Uncertain 11_102319328_T->C 11 102319328 102319328 T C snp 56.74 1/1 6 2 0 2 1.0 intronic rs577850 TMEM123 AU NM_052932 exon4 c.49945-214T>C 0.86242 0.995 Uncertain 11_102323160_C->T 11 102323160 102323160 C T snp 2244.77 1/1 99 84 1 83 0.99 intronic rs2436036 TMEM123 AU NM_052932 exon5 c.53657-94C>T 0.861022 0.995 Uncertain 11_102391425_G->A 11 102391425 102391425 G A snp 683.77 0/1 99 69 36 33 0.48 UTR3 rs14983 MMP7 AU 0.132588 0.248 0.151555 Uncertain 11_102398433_-->T 11 102398433 102398433 - T indel 3854.73 0/1 99 248 131 117 0.47 intronic rs3216144 MMP7 AU NM_002423 exon4 c.6897+30insT 0.161741 0.1850 0.2495 Uncertain 11_102398436_C->T 11 102398436 102398436 C T snp 2892.77 0/1 99 249 136 113 0.45 intronic rs78978042 MMP7 AU NM_002423 exon4 c.6897+33C>T 0.1850 0.2497 Uncertain 11_102398593_C->T 11 102398593 102398593 C T snp 2805.77 0/1 99 225 107 118 0.52 exonic rs10502001 MMP7 AU nonsynonymous SNV NM_002423 exon2 c.G230A p.R77H 0.133586 0.248 0.160489 0.1854 0.2512 0.17 T 0.0 P -1.071 T 0.021 T 0.007 T Pathogenic 11_102448256_A->G 11 102448256 102448256 A G snp 74.77 0/1 99 8 5 3 0.38 intronic rs2292730 MMP20 AR NM_004771 exon1 c.101+99A>G 0.650559 0.7708 Uncertain 11_102449650_T->A 11 102449650 102449650 T A snp 435.77 0/1 99 33 16 17 0.52 intronic rs7934921 MMP20 AR NM_004771 exon2 c.1713-119T>A 0.650958 0.7688 Uncertain 11_102449951_A->C 11 102449951 102449951 A C snp 71.77 0/1 99 8 5 3 0.38 intronic rs1940054 MMP20 AR NM_004771 exon2 c.1817+78A>C 0.651158 0.7698 Uncertain 11_102464451_C->T 11 102464451 102464451 C T snp 183.9 1/1 15 7 0 7 1.0 intronic rs1784440 MMP20 AR NM_004771 exon3 c.16270+125C>T 0.517772 0.5198 Uncertain 11_102465226_C->T 11 102465226 102465226 C T snp 222.84 1/1 18 6 0 6 1.0 intronic rs1711437 MMP20 AR NM_004771 exon4 c.17295-125C>T 0.396565 0.3631 Uncertain 11_102477377_G->T 11 102477377 102477377 G T snp 1898.77 1/1 99 73 0 73 1.0 exonic rs1784424 MMP20 AR nonsynonymous SNV NM_004771 exon6 c.C842A p.T281N 0.419928 0.4325 0.406490 0.4517 0.4395 0.52 T 0.000 P -0.920 T 0.0 T 0.001 T Pathogenic 11_102477395_A->G 11 102477395 102477395 A G snp 2003.77 1/1 99 76 0 76 1.0 exonic rs1784423 MMP20 AR nonsynonymous SNV NM_004771 exon6 c.T824C p.V275A 0.419928 0.4325 0.406490 0.4519 0.4403 0.84 T 0.0 P -0.930 T 0.0 T 0.0 T Pathogenic 11_102479549_T->C 11 102479549 102479549 T C snp 349.78 1/1 27 9 0 9 1.0 intronic rs1711420 MMP20 AR NM_004771 exon6 c.31611-118T>C 0.427915 0.4345 Uncertain 11_102479555_T->C 11 102479555 102479555 T C snp 351.78 1/1 27 9 0 9 1.0 intronic rs1711419 MMP20 AR NM_004771 exon6 c.31611-112T>C 0.805911 0.9732 Uncertain 11_102482738_G->A 11 102482738 102482738 G A snp 546.77 1/1 42 14 0 14 1.0 intronic rs1711416 MMP20 AR NM_004771 exon8 c.34578+104G>A 0.422324 0.4385 Uncertain 11_102495998_T->G 11 102495998 102495998 T G snp 1505.77 1/1 99 53 0 53 1.0 exonic rs2245803 MMP20 AR nonsynonymous SNV NM_004771 exon1 c.A53C p.K18T 0.676518 0.8016 0.637419 0.6623 0.8301 0.61 T 0.141 P -1.012 T 0.0 T 0.0 T Pathogenic 11_102563739_C->T 11 102563739 102563739 C T snp 2051.77 0/1 99 150 62 88 0.59 exonic rs1276289 MMP27 AU synonymous SNV NM_022122 exon9 c.G1227A p.G409G 0.45008 0.629 0.391879 0.4685 0.5901 Uncertain 11_102567207_T->A 11 102567207 102567207 T A snp 1763.77 0/1 99 144 69 75 0.52 exonic rs1276286 MMP27 AU nonsynonymous SNV NM_022122 exon6 c.A797T p.E266V 0.4375 0.629 0.382190 0.4658 0.5911 0.44 T 0.0 P -0.933 T 0.0 T 0.0 T Pathogenic 11_102567626_C->G 11 102567626 102567626 C G snp 1056.77 0/1 99 79 41 38 0.48 intronic rs1940480 MMP27 AU NM_022122 exon6 c.5070+60C>G 0.437899 0.629 Uncertain 11_102573396_C->G 11 102573396 102573396 C G snp 645.77 1/1 48 23 0 23 1.0 intronic rs2701994 MMP27 AU NM_022122 exon7 c.10987-87C>G 0.945487 0.998 Uncertain 11_102573409_G->T 11 102573409 102573409 G T snp 414.77 0/1 99 33 18 15 0.45 intronic rs576894237 MMP27 AU NM_022122 exon7 c.10987-74G>T 0.00139776 Uncertain 11_102573451_T->C 11 102573451 102573451 T C snp 845.77 0/1 99 62 28 34 0.55 intronic rs3809017 MMP27 AU NM_022122 exon7 c.10987-32T>C 0.216454 0.2252 0.172101 0.1519 0.2573 Uncertain 11_102575152_A->T 11 102575152 102575152 A T snp 264.77 0/1 99 47 33 14 0.3 intronic rs11225387 MMP27 AU NM_022122 exon9 c.12771-115A>T 0.165935 0.1885 Uncertain 11_102576358_T->C 11 102576358 102576358 T C snp 2195.77 1/1 99 76 0 76 1.0 exonic rs2846707 MMP27 AU nonsynonymous SNV NM_022122 exon1 c.A88G p.M30V 0.815895 0.8839 0.732006 0.7258 0.9071 0.91 T 0.0 P -0.988 T 0.002 T 0.012 T Pathogenic 11_102576375_G->A 11 102576375 102576375 G A snp 1148.77 0/1 99 97 48 49 0.51 exonic rs1939015 MMP27 AU nonsynonymous SNV NM_022122 exon1 c.C71T p.T24M 0.778155 0.8135 0.801676 0.8199 0.7878 0.29 T 0.0 P -1.037 T 0.002 T 0.003 T Pathogenic 11_102584023_T->A 11 102584023 102584023 T A snp 7035.77 1/1 99 250 0 250 1.0 UTR3 rs1939018 MMP8 AU 0.94349 0.998 Uncertain 11_102584240_T->C 11 102584240 102584240 T C snp 600.77 0/1 99 47 23 24 0.51 intronic rs1939019 MMP8 AU NM_002424 exon1 c.110+52T>C 0.153554 0.2014 0.102367 0.1080 0.2423 Uncertain 11_102584466_G->T 11 102584466 102584466 G T snp 708.77 0/1 99 69 35 34 0.49 intronic rs5007518 MMP8 AU NM_002424 exon2 c.406-18G>T 0.16853 0.2014 0.1120 0.2348 Uncertain 11_102584466_-->T 11 102584466 102584466 - T indel 888.73 1/1 52 69 8 61 0.88 intronic rs3832755 MMP8 AU NM_002424 exon2 c.406-18insT 0.603435 0.6468 0.576438 0.5707 0.6316 Uncertain 11_102584607_T->C 11 102584607 102584607 T C snp 1173.77 0/1 99 85 33 52 0.61 intronic rs2509013 MMP8 AU NM_002424 exon2 c.510+19T>C 0.640974 0.6538 0.618502 0.6138 0.6422 Uncertain 11_102592049_-->TGTG 11 102592049 102592049 - TGTG indel 2049.73 1/1 99 34 0 34 1.0 intronic rs10678551 MMP8 AU NM_002424 exon7 c.8053-82insTGTG 0.542532 0.4851 Uncertain 11_102593042_T->A 11 102593042 102593042 T A snp 309.78 1/1 24 9 0 9 1.0 intronic rs948218 MMP8 AU NM_002424 exon9 c.9081-117T>A 0.654353 0.5774 Uncertain 11_102593053_G->T 11 102593053 102593053 G T snp 396.77 1/1 30 13 0 13 1.0 intronic rs1940474 MMP8 AU NM_002424 exon9 c.9081-106G>T 0.584864 0.5685 Uncertain 11_102593248_T->C 11 102593248 102593248 T C snp 5495.77 1/1 99 200 0 200 1.0 exonic rs1940475 MMP8 AU nonsynonymous SNV NM_002424 exon2 c.A259G p.K87E 0.60004 0.5685 0.553445 0.5423 0.6383 0.16 T 0.000 P -0.955 T 0.01 T 0.017 T Pathogenic 11_102594376_A->C 11 102594376 102594376 A C snp 2332.77 1/1 99 87 1 86 0.99 intronic rs6590983 MMP8 AU NM_001304441 exon10 c.9734+564A>C 0.654353 0.5774 Uncertain 11_102594427_T->C 11 102594427 102594427 T C snp 1971.77 1/1 99 67 0 67 1.0 intronic rs6590984 MMP8 AU NM_001304441 exon10 c.9734+615T>C 0.963259 0.998 Uncertain 11_102595492_G->A 11 102595492 102595492 G A snp 3000.77 1/1 99 112 1 111 0.99 exonic rs3765620 MMP8 AU nonsynonymous SNV NM_002424 exon1 c.C95T p.T32I 0.654353 0.5774 0.622655 0.5972 0.6420 0.26 T 0.0 P -0.944 T 0.0 T 0.001 T Pathogenic 11_102595666_C->G 11 102595666 102595666 C G snp 1595.77 1/1 99 54 0 54 1.0 UTR5 rs2155052 MMP8 AU 0.945887 0.998 Uncertain 11_102623071_G->A 11 102623071 102623071 G A snp 665.77 0/1 99 52 30 22 0.42 intergenic MMP8 AU Uncertain 11_102623115_A->G 11 102623115 102623115 A G snp 600.77 1/1 45 15 0 15 1.0 intergenic rs531335 MMP8 AU 0.978435 0.999 Uncertain 11_102624007_G->A 11 102624007 102624007 G A snp 236.77 0/1 73 13 4 9 0.69 intergenic rs10895360 MMP8 AU 0.0936502 0.245 Uncertain 11_102641382_G->A 11 102641382 102641382 G A snp 189.77 0/1 99 11 4 7 0.64 UTR3 rs470168 MMP10 AU 0.247204 0.125 Uncertain 11_102641452_G->C 11 102641452 102641452 G C snp 699.77 0/1 99 53 25 28 0.53 UTR3 rs470171 MMP10 AU 0.247404 0.125 Uncertain 11_102642716_-->T 11 102642716 102642716 - T indel 4588.73 1/1 99 110 0 110 1.0 intronic rs17860997 MMP10 AU NM_002425 exon2 c.1219-26insT 0.930511 0.9087 0.948083 0.9265 0.9162 Uncertain 11_102647310_T->G 11 102647310 102647310 T G snp 973.77 1/1 69 38 1 37 0.97 intronic rs470154 MMP10 AU NM_002425 exon6 c.5819-32T>G 0.926717 0.8899 0.948554 0.9247 0.8926 Uncertain 11_102649543_T->A 11 102649543 102649543 T A snp 689.77 1/1 51 22 0 22 1.0 intronic rs470277 MMP10 AU NM_002425 exon7 c.7957+63T>A 0.92472 0.8899 Uncertain 11_102661080_G->A 11 102661080 102661080 G A snp 308.77 0/1 99 23 11 12 0.52 ncRNA_intronic rs2239008 WTAPP1 AU 0.23143 0.4435 Uncertain 11_102661099_T->C 11 102661099 102661099 T C snp 310.77 0/1 99 26 13 13 0.5 ncRNA_intronic rs470215 WTAPP1 AU 0.289537 0.0913 0.358594 0.3256 0.0872 Uncertain 11_102661595_A->G 11 102661595 102661595 A G snp 1957.77 0/1 99 122 51 71 0.58 ncRNA_intronic rs470747 WTAPP1 AU 0.288738 0.0913 Uncertain 11_102661665_G->A 11 102661665 102661665 G A snp 348.77 0/1 99 26 14 12 0.46 ncRNA_intronic rs1938901 WTAPP1 AU 0.303914 0.5337 Uncertain 11_102663476_-->G 11 102663476 102663476 - G indel 2272.73 0/1 99 154 84 70 0.45 ncRNA_intronic rs17884110 WTAPP1 AU 0.251398 0.0913 0.318371 0.3045 0.0825 Uncertain 11_102663482_A->T 11 102663482 102663482 A T snp 1444.77 0/1 99 149 83 66 0.44 ncRNA_intronic rs1144391 WTAPP1 AU 0.251597 0.0913 0.195325 0.3044 0.0824 Uncertain 11_102663503_T->C 11 102663503 102663503 T C snp 1799.77 0/1 99 125 56 69 0.55 ncRNA_intronic rs7125062 WTAPP1 AU 0.392772 0.6716 0.287263 0.3353 0.7148 Uncertain 11_102666043_A->G 11 102666043 102666043 A G snp 4080.77 1/1 99 137 0 137 1.0 ncRNA_intronic rs491152 WTAPP1 AU 0.93131 0.8899 0.958705 0.9301 0.8916 Uncertain 11_102666316_T->C 11 102666316 102666316 T C snp 3519.77 1/1 99 113 0 113 1.0 exonic rs470558 MMP1 AU,AR synonymous SNV NM_002421 exon5 c.A648G p.A216A 0.93131 0.8899 0.958628 0.9304 0.8917 Uncertain 11_102668604_A->- 11 102668604 102668604 A - indel 422.73 1/1 59 20 0 20 1.0 ncRNA_intronic rs398017362 WTAPP1 AU Uncertain 11_102668702_T->C 11 102668702 102668702 T C snp 1441.77 1/1 99 52 0 52 1.0 ncRNA_intronic rs470358 WTAPP1 AU 0.672324 0.5764 0.669179 0.6153 0.5638 Uncertain 11_102707305_G->A 11 102707305 102707305 G A snp 1900.77 0/1 99 168 89 79 0.47 ncRNA_exonic WTAPP1 AU 0.0748802 0.0774 0.1190 0.0648 Uncertain 11_102707339_C->A 11 102707339 102707339 C A snp 3951.77 1/1 99 148 2 146 0.99 ncRNA_exonic WTAPP1 AU 0.614617 0.6696 Uncertain 11_102707366_A->T 11 102707366 102707366 A T snp 1390.77 0/1 99 131 67 64 0.49 ncRNA_exonic WTAPP1 AU 0.0748802 0.0774 Uncertain 11_102707914_A->G 11 102707914 102707914 A G snp 718.77 1/1 54 21 0 21 1.0 intronic MMP3 AU NM_002422 exon2 c.1172-114A>G 0.621006 0.6696 Uncertain 11_102709425_A->G 11 102709425 102709425 A G snp 3672.77 1/1 99 147 0 147 1.0 exonic MMP3 AU synonymous SNV NM_002422 exon8 c.T1086C p.A362A 0.622404 0.6706 0.514226 0.5669 0.6699 1.000 P -0.966 T Likely benign 11_102709522_T->A 11 102709522 102709522 T A snp 413.77 0/1 99 20 7 13 0.65 intronic MMP3 AU NM_002422 exon3 c.2585+81T>A 0.0782748 0.0774 Uncertain 11_102711338_T->C 11 102711338 102711338 T C snp 1164.77 1/1 84 38 0 38 1.0 intronic MMP3 AU NM_002422 exon6 c.4468+14T>C 0.644768 0.6677 0.541603 0.5737 0.6689 Uncertain 11_102713046_C->T 11 102713046 102713046 C T snp 866.77 0/1 99 63 27 36 0.57 intronic MMP3 AU NM_002422 exon7 c.6154+36C>T 0.177117 0.0843 0.229314 0.2080 0.0758 Uncertain 11_102713465_A->G 11 102713465 102713465 A G snp 4699.77 1/1 99 170 0 170 1.0 exonic MMP3 AU synonymous SNV NM_002422 exon2 c.T288C p.D96D 0.61861 0.6667 0.513380 0.5652 0.6690 Uncertain 11_102713620_T->C 11 102713620 102713620 T C snp 3241.77 1/1 99 122 1 121 0.99 exonic MMP3 AU nonsynonymous SNV NM_002422 exon2 c.A133G p.K45E 0.652157 0.6657 0.547216 0.5891 0.6765 1 T 0.0 P -0.961 T 0.0 T 0.001 T ID=CM087504;DIS=Blood pressure, association with;TAG=DP;PUB=19008710 DP Pathogenic 11_102713777_G->C 11 102713777 102713777 G C snp 50.74 1/1 6 2 0 2 1.0 intronic MMP3 AU NM_002422 exon9 c.6791+130G>C 0.64357 0.6667 Uncertain 11_102735103_A->G 11 102735103 102735103 A G snp 2259.77 1/1 99 71 0 71 1.0 intronic MMP12 AU NM_002426 exon2 c.1153+120A>G 0.779553 0.7351 Uncertain 11_102737192_A->T 11 102737192 102737192 A T snp 2139.77 0/1 99 186 88 98 0.53 intronic MMP12 AU NM_002426 exon4 c.3349+13A>T 0.0593051 0.0367 0.089459 0.1211 0.0294 Uncertain 11_102737277_TTTCCAT->- 11 102737277 102737283 TTTCCAT - indel 4100.73 0/1 99 100 48 52 0.52 intronic MMP12 AU NM_002426 exon4 c.3349+98_3349+104delTTTCCAT 0.0593051 0.0367 Uncertain 11_102737945_A->- 11 102737945 102737945 A - indel 315.73 0/1 99 27 14 13 0.48 intronic MMP12 AU NM_002426 exon5 c.4170-55delA 0.279353 0.371 Uncertain 11_102738793_-->T 11 102738793 102738793 - T indel 4405.73 1/1 99 118 0 118 1.0 exonic MMP12 AU unknown 1.0000 1 ID=COSM1350419;OCCURENCE=2(large_intestine) Uncertain 11_102738795_G->T 11 102738795 102738795 G T snp 3058.77 1/1 99 110 1 109 0.99 exonic MMP12 AU unknown 1 1 Uncertain 11_102742761_G->T 11 102742761 102742761 G T snp 421.77 0/1 99 36 20 16 0.44 intronic MMP12 AU NM_002426 exon8 c.8852+79G>T 0.0621006 0.0367 Uncertain 11_102745470_CAAA->- 11 102745470 102745473 CAAA - indel 612.73 0/1 99 23 11 12 0.52 intronic MMP12 AU NM_002426 exon10 c.11735-95_11735-92delCAAA 0.243211 0.1567 Uncertain 11_102824826_T->C 11 102824826 102824826 T C snp 751.77 1/1 57 25 0 25 1.0 intronic rs478927 MMP13 AR,AD NM_002427 exon7 c.9890-58T>C 0.638379 0.497 Uncertain 11_102825091_T->G 11 102825091 102825091 T G snp 2471.77 1/1 99 87 0 87 1.0 intronic rs640198 MMP13 AR,AD NM_002427 exon7 c.10016+81T>G 0.636981 0.497 Uncertain 11_102985018_A->G 11 102985018 102985018 A G snp 200.77 0/1 99 10 3 7 0.7 intronic rs2245404 DYNC2H1 AR,AO NM_001377 exon3 c.4664+51A>G 0.316693 0.2123 0.325581 Uncertain 11_102991197_C->T 11 102991197 102991197 C T snp 1002.77 0/1 99 79 35 44 0.56 exonic rs17301182 DYNC2H1 AR,AO nonsynonymous SNV NM_001080463 exon7 c.C1021T p.H341Y 0.0716853 0.0933 0.090452 0.1017 0.1044 0.1 T 0.998 P -1.037 T 0.763 T 0.431 P Pathogenic 11_103004929_C->G 11 103004929 103004929 C G snp 802.77 1/1 60 23 0 23 1.0 intronic rs2450918 DYNC2H1 AR,AO NM_001377 exon15 c.24746-120C>G 0.753994 0.875 Uncertain 11_103006557_G->A 11 103006557 103006557 G A snp 789.77 0/1 99 101 65 36 0.36 exonic rs77738279 DYNC2H1 AR,AO synonymous SNV NM_001080463 exon17 c.G2454A p.E818E 0.0415335 0.0585 0.032266 0.0431 0.0640 Uncertain 11_103013954_G->T 11 103013954 103013954 G T snp 81.77 0/1 30 4 1 3 0.75 intronic rs2514006 DYNC2H1 AR,AO NM_001377 exon18 c.33693-42G>T 0.68131 0.7827 0.664270 0.7317 0.7615 Uncertain 11_103026041_T->- 11 103026041 103026041 T - indel 405.73 0/1 82 26 6 20 0.77 intronic rs398017374 DYNC2H1 AR,AO NM_001377 exon25 c.45756-18delT 0.66893 0.7063 0.7075 0.6946 Uncertain 11_103027234_A->G 11 103027234 103027234 A G snp 1440.77 0/1 99 122 57 65 0.53 exonic rs17301750 DYNC2H1 AR,AO nonsynonymous SNV NM_001080463 exon26 c.A3862G p.T1288A 0.076278 0.0923 0.087715 0.1048 0.1079 0.76 T 0.059 P -1.033 T 0.004 T 0.016 T Pathogenic 11_103029373_G->A 11 103029373 103029373 G A snp 269.8 1/1 21 9 0 9 1.0 intronic rs688094 DYNC2H1 AR,AO NM_001377 exon27 c.49102-32G>A 0.932308 0.8859 0.942847 0.9049 0.8408 Uncertain 11_103029516_A->G 11 103029516 103029516 A G snp 219.77 0/1 99 24 11 13 0.54 exonic rs688906 DYNC2H1 AR,AO nonsynonymous SNV NM_001080463 exon27 c.A4238G p.K1413R 0.668331 0.7827 0.672075 0.7126 0.7981 0.1 T 0.980 P -0.935 T 0.661 T 0.309 P Pathogenic 11_103033914_A->T 11 103033914 103033914 A T snp 1616.77 0/1 99 130 61 69 0.53 intronic rs657936 DYNC2H1 AR,AO NM_001377 exon30 c.53573+38A>T 0.697284 0.7857 0.690973 0.7368 0.7596 Uncertain 11_103041040_A->C 11 103041040 103041040 A C snp 785.77 0/1 99 54 23 31 0.57 intronic rs12576037 DYNC2H1 AR,AO NM_001377 exon33 c.60716+21A>C 0.0760783 0.0923 0.085758 0.1549 0.1967 Uncertain 11_103047007_C->A 11 103047007 103047007 C A snp 1759.77 1/1 99 65 0 65 1.0 exonic rs585692 DYNC2H1 AR,AO synonymous SNV NM_001080463 exon37 c.C5718A p.T1906T 0.93131 0.8859 0.944615 0.9178 0.8994 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000153168.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 11_103048249_T->C 11 103048249 103048249 T C snp 741.77 0/1 99 67 36 31 0.46 intronic rs61899764 DYNC2H1 AR,AO NM_001377 exon38 c.67981-35T>C 0.0764776 0.0923 0.088696 0.1161 0.1221 Uncertain 11_103049638_T->C 11 103049638 103049638 T C snp 220.84 1/1 18 6 0 6 1.0 intronic rs634384 DYNC2H1 AR,AO NM_001377 exon39 c.69451-116T>C 0.932907 0.8859 Uncertain 11_103050028_A->G 11 103050028 103050028 A G snp 341.77 0/1 99 21 9 12 0.57 intronic rs632672 DYNC2H1 AR,AO NM_001377 exon39 c.69659+66A>G 0.6873 0.7827 Uncertain 11_103055490_T->C 11 103055490 103055490 T C snp 133.77 0/1 99 16 11 5 0.31 intronic rs17374415 DYNC2H1 AR,AO NM_001377 exon41 c.75321-134T>C 0.0764776 0.0923 Uncertain 11_103057048_A->G 11 103057048 103057048 A G snp 2767.77 0/1 99 205 87 118 0.58 exonic rs658804 DYNC2H1 AR,AO synonymous SNV NM_001080463 exon42 c.A6711G p.R2237R 0.571486 0.5526 0.597551 0.6204 0.5424 Uncertain 11_103058126_C->T 11 103058126 103058126 C T snp 2463.77 0/1 99 243 128 115 0.47 exonic rs586592 DYNC2H1 AR,AO synonymous SNV NM_001080463 exon43 c.C6951T p.H2317H 0.617013 0.5526 0.643765 0.6330 0.5429 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000079444.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 11_103060309_A->G 11 103060309 103060309 A G snp 135.03 1/1 12 4 0 4 1.0 intronic rs617059 DYNC2H1 AR,AO NM_001377 exon45 c.80097-91A>G 0.873403 0.8859 Uncertain 11_103060671_A->C 11 103060671 103060671 A C snp 58.77 0/1 87 15 10 5 0.33 intronic rs12577323 DYNC2H1 AR,AO NM_001377 exon45 c.80242+126A>C 0.076278 0.0923 Uncertain 11_103074349_C->T 11 103074349 103074349 C T snp 312.78 1/1 24 10 0 10 1.0 intronic rs631712 DYNC2H1 AR,AO NM_001377 exon51 c.94088-42C>T 0.917332 0.8859 0.930335 0.9199 0.8634 Uncertain 11_103074639_C->A 11 103074639 103074639 C A snp 218.84 1/1 18 6 0 6 1.0 intronic rs613978 DYNC2H1 AR,AO NM_001377 exon51 c.94202+134C>A 0.916933 0.8859 Uncertain 11_103074658_A->G 11 103074658 103074658 A G snp 130.03 1/1 12 4 0 4 1.0 intronic rs633030 DYNC2H1 AR,AO NM_001377 exon51 c.94202+153A>G 0.916933 0.8859 Uncertain 11_103082558_A->G 11 103082558 103082558 A G snp 216.77 0/1 99 25 13 12 0.48 exonic rs17394217 DYNC2H1 AR,AO synonymous SNV NM_001080463 exon54 c.A8580G p.E2860E 0.0776757 0.0923 0.081626 0.1121 0.1045 Uncertain 11_103082590_G->A 11 103082590 103082590 G A snp 315.77 0/1 99 33 16 17 0.52 exonic rs589623 DYNC2H1 AR,AO nonsynonymous SNV NM_001080463 exon54 c.G8612A p.R2871Q 0.738419 0.7937 0.754436 0.7873 0.8091 0.12 T 1.000 P -1.102 T 0.721 T 0.393 P Pathogenic 11_103086381_G->T 11 103086381 103086381 G T snp 229.77 0/1 99 12 5 7 0.58 intronic rs679691 DYNC2H1 AR,AO NM_001377 exon55 c.106146-68G>T 0.740415 0.7956 Uncertain 11_103086399_-->TA 11 103086399 103086399 - TA indel 842.73 1/1 51 17 0 17 1.0 intronic rs60800710 DYNC2H1 AR,AO NM_001377 exon55 c.106146-50insTA 0.920327 0.8859 0.930536 Uncertain 11_103086725_C->G 11 103086725 103086725 C G snp 1098.77 1/1 81 32 0 32 1.0 intronic rs635193 DYNC2H1 AR,AO NM_001377 exon55 c.106284+138C>G 0.571486 0.5546 Uncertain 11_103091237_A->G 11 103091237 103091237 A G snp 96.28 1/1 9 3 0 3 1.0 intronic rs636510 DYNC2H1 AR,AO NM_001377 exon57 c.111048-114A>G 0.920927 0.8859 Uncertain 11_103091546_G->A 11 103091546 103091546 G A snp 1509.77 1/1 99 49 0 49 1.0 intronic rs670464 DYNC2H1 AR,AO NM_001377 exon57 c.111209+34G>A 0.920927 0.8859 0.930712 0.9261 0.8745 Uncertain 11_103092945_A->G 11 103092945 103092945 A G snp 379.77 1/1 30 11 0 11 1.0 intronic rs654061 DYNC2H1 AR,AO NM_001377 exon58 c.112579+63A>G 0.920927 0.8859 Uncertain 11_103092968_C->T 11 103092968 103092968 C T snp 143.03 1/1 12 5 0 5 1.0 intronic rs669940 DYNC2H1 AR,AO NM_001377 exon58 c.112579+86C>T 0.920927 0.8859 Uncertain 11_103092981_C->T 11 103092981 103092981 C T snp 137.03 1/1 12 5 0 5 1.0 intronic rs669969 DYNC2H1 AR,AO NM_001377 exon58 c.112579+99C>T 0.916933 0.8859 Uncertain 11_103101868_G->C 11 103101868 103101868 G C snp 83.77 0/1 67 6 2 4 0.67 intronic rs667819 DYNC2H1 AR,AO NM_001377 exon60 c.121685-120G>C 0.571086 0.5546 Uncertain 11_103101903_A->G 11 103101903 103101903 A G snp 270.77 0/1 99 20 9 11 0.55 intronic rs11225611 DYNC2H1 AR,AO NM_001377 exon60 c.121685-85A>G 0.180911 0.0933 Uncertain 11_103101918_A->G 11 103101918 103101918 A G snp 311.77 0/1 99 24 12 12 0.5 intronic rs61896694 DYNC2H1 AR,AO NM_001377 exon60 c.121685-70A>G 0.0778754 0.0933 Uncertain 11_103104669_A->G 11 103104669 103104669 A G snp 188.77 0/1 99 13 6 7 0.54 intronic rs11823725 DYNC2H1 AR,AO NM_001377 exon61 c.124459-93A>G 0.103435 0.0923 Uncertain 11_103104930_C->A 11 103104930 103104930 C A snp 2405.77 1/1 99 84 0 84 1.0 intronic rs1784259 DYNC2H1 AR,AO NM_001377 exon61 c.124586+41C>A 0.920927 0.8859 0.931522 0.9211 0.8814 Uncertain 11_103126996_G->A 11 103126996 103126996 G A snp 283.77 0/1 99 38 25 13 0.34 intronic rs959890 DYNC2H1 AR,AO NM_001377 exon68 c.146666+27G>A 0.0778754 0.0942 0.087150 0.1171 0.1192 Uncertain 11_103151034_A->G 11 103151034 103151034 A G snp 318.77 0/1 99 39 25 14 0.36 intronic rs7103616 DYNC2H1 AR,AO NM_001377 exon71 c.170773-42A>G 0.102636 0.0923 0.100249 0.1134 0.1019 Uncertain 11_103158278_C->T 11 103158278 103158278 C T snp 1255.77 0/1 99 125 67 58 0.46 exonic rs10895391 DYNC2H1 AR,AO nonsynonymous SNV NM_001080463 exon76 c.C11060T p.A3687V 0.286342 0.3016 0.306173 0.3329 0.2963 0.12 T 1.000 P -0.848 T 0.882 T 0.278 P Pathogenic 11_103192039_T->C 11 103192039 103192039 T C snp 266.77 0/1 99 17 7 10 0.59 intronic rs313407 DYNC2H1 AR,AO NM_001377 exon81 c.211663+73T>C 0.435703 0.4573 Uncertain 11_103192089_G->C 11 103192089 103192089 G C snp 46.78 0/1 27 3 1 2 0.67 intronic rs313406 DYNC2H1 AR,AO NM_001377 exon81 c.211663+123G>C 0.419329 0.4583 Uncertain 11_103229027_T->C 11 103229027 103229027 T C snp 1920.77 0/1 99 167 83 84 0.5 exonic rs2566913 DYNC2H1 AR,AO synonymous SNV NM_001080463 exon84 c.T12117C p.D4039D 0.495008 0.4871 0.558415 0.6589 0.5889 Uncertain 11_103229110_G->A 11 103229110 103229110 G A snp 3037.77 0/1 99 244 109 135 0.55 intronic rs2671333 DYNC2H1 AR,AO NM_001377 exon83 c.248784+23G>A 0.495008 0.4871 0.559913 0.5914 0.5325 Uncertain 11_103229173_A->C 11 103229173 103229173 A C snp 2303.77 0/1 99 176 75 101 0.57 intronic rs2514408 DYNC2H1 AR,AO NM_001377 exon83 c.248784+86A>C 0.495008 0.4871 Uncertain 11_103229188_G->C 11 103229188 103229188 G C snp 2215.77 0/1 99 162 67 95 0.59 intronic rs2512128 DYNC2H1 AR,AO NM_001377 exon83 c.248784+101G>C 0.673722 0.6835 Uncertain 11_103229238_G->A 11 103229238 103229238 G A snp 1150.77 0/1 99 69 27 42 0.61 intronic rs2512129 DYNC2H1 AR,AO NM_001377 exon83 c.248784+151G>A 0.673123 0.6835 Uncertain 11_103229274_T->C 11 103229274 103229274 T C snp 490.77 0/1 99 25 10 15 0.6 intronic rs2514407 DYNC2H1 AR,AO NM_001377 exon83 c.248784+187T>C 0.26857 0.2649 Uncertain 11_103270607_G->A 11 103270607 103270607 G A snp 1161.77 0/1 99 103 54 49 0.48 intronic rs10895417 DYNC2H1 AR,AO NM_001377 exon84 c.290297+7G>A 0.53774 0.5327 0.504222 0.4912 0.5408 Uncertain 11_103306594_C->T 11 103306594 103306594 C T snp 343.77 0/1 99 36 22 14 0.39 intronic rs501413 DYNC2H1 AR,AO NM_001377 exon85 c.326367-76C>T 0.629593 0.7262 Uncertain 11_103325800_C->A 11 103325800 103325800 C A snp 189.77 0/1 99 12 6 6 0.5 intronic rs313875 DYNC2H1 AR,AO NM_001377 exon86 c.345610-113C>A 0.559704 0.5863 Uncertain 11_103780455_A->G 11 103780455 103780455 A G snp 2435.77 1/1 99 85 0 85 1.0 exonic rs10791649 PDGFD AU synonymous SNV NM_025208 exon7 c.T1080C p.C360C 0.461462 0.4603 0.479695 0.4464 0.4449 Uncertain 11_103780610_C->T 11 103780610 103780610 C T snp 2133.77 1/1 99 74 0 74 1.0 intronic rs4754997 PDGFD AU NM_025208 exon1 c.126+63C>T 0.461661 0.4603 Uncertain 11_103780695_G->A 11 103780695 103780695 G A snp 639.77 1/1 48 18 0 18 1.0 intronic rs4754998 PDGFD AU NM_025208 exon1 c.126+148G>A 0.461661 0.4603 Uncertain 11_103870925_G->A 11 103870925 103870925 G A snp 948.77 0/1 99 84 43 41 0.49 exonic rs148454316 PDGFD AU synonymous SNV NM_025208 exon2 c.C183T p.N61N 0.000399361 0.000154 5.766e-05 0 Uncertain 11_104757836_-->A 11 104757836 104757836 - A indel 344.74 1/1 27 9 0 9 1.0 intronic rs5794352 CASP12 AU NM_001191016 exon3 c.482-86insA 0.997804 1 Uncertain 11_104758035_G->A 11 104758035 104758035 G A snp 1236.77 1/1 87 49 0 49 1.0 intronic rs484438 CASP12 AU NM_001191016 exon3 c.588+7G>A 0.888778 0.997 0.9774 1 Uncertain 11_104761013_T->G 11 104761013 104761013 T G snp 1045.77 1/1 78 34 0 34 1.0 intronic rs635846 CASP12 AU NM_001191016 exon4 c.3656-83T>G 0.942891 0.998 Uncertain 11_104761100_T->C 11 104761100 104761100 T C snp 4172.77 1/1 99 154 0 154 1.0 exonic rs513131 CASP12 AU nonsynonymous SNV NM_001191016 exon5 c.A818G p.H273R 0.997604 1 0.9994 1 1.000 P Pathogenic 11_104761206_C->T 11 104761206 104761206 C T snp 3855.77 1/1 99 147 0 147 1.0 exonic rs647039 CASP12 AU nonsynonymous SNV NM_001191016 exon5 c.G712A p.G238S 0.998602 1 0.9996 1 0.79 T 0.0 P -1.018 T 0.012 T 0.0 T Pathogenic 11_104761271_A->C 11 104761271 104761271 A C snp 1818.77 1/1 99 53 0 53 1.0 intronic rs693506 CASP12 AU NM_001191016 exon4 c.3810+21A>C 0.893371 0.998 0.9803 1 Uncertain 11_104762228_G->A 11 104762228 104762228 G A snp 718.77 1/1 54 21 0 21 1.0 intronic rs544216 CASP12 AU NM_001191016 exon5 c.4691+97G>A 0.997404 1 Uncertain 11_104763117_G->A 11 104763117 104763117 G A snp 4102.77 1/1 99 145 0 145 1.0 exonic rs497116 CASP12 AU stopgain NM_001191016 exon3 c.C373T p.R125X 0.948482 0.998 0.9856 1 0.63 T 1.000 P CLINSIG=other;CLNDBN=Sepsis\x2c_susceptibility_to;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000002255.1;CLNDSDB=.;CLNDSDBID=. Pathogenic 11_104763716_A->G 11 104763716 104763716 A G snp 3938.77 1/1 99 142 0 142 1.0 intronic rs617983 CASP12 AU NM_001191016 exon6 c.5790+486A>G 0.970647 1 0.9959 1 Uncertain 11_104768000_G->A 11 104768000 104768000 G A snp 6879.77 1/1 99 249 0 249 1.0 exonic rs693001 CASP12 AU nonsynonymous SNV NM_001191016 exon2 c.C203T p.T68I 0.955272 0.998 0.9868 1 0.22 T 0.0 P -0.959 T 0.002 T 0.0 T Pathogenic 11_104768098_T->C 11 104768098 104768098 T C snp 5623.77 1/1 99 203 0 203 1.0 exonic rs555367 CASP12 AU synonymous SNV NM_001191016 exon2 c.A105G p.V35V 0.989816 1 0.9984 1 Uncertain 11_104768909_T->C 11 104768909 104768909 T C snp 944.77 1/1 69 28 0 28 1.0 intronic rs650940 CASP12 AU NM_001191016 exon8 c.11694-225T>C 0.658546 0.8175 Uncertain 11_104815768_T->C 11 104815768 104815768 T C snp 175.9 1/1 15 5 0 5 1.0 intronic rs509982 CASP4 AU NM_001225 exon2 c.99+190T>C 0.949081 1 Uncertain 11_104819327_T->C 11 104819327 104819327 T C snp 3016.77 1/1 99 112 0 112 1.0 exonic rs9507 CASP4 AU synonymous SNV NM_001225 exon6 c.A858G p.L286L 0.949281 1 0.949239 0.9858 1 Uncertain 11_104819542_-->AAACAGAC 11 104819542 104819542 - AAACAGAC indel 1485.73 1/1 66 26 0 26 1.0 intronic rs34189390 CASP4 AU NM_001225 exon4 c.3924+139insAAACAGAC Uncertain 11_104819544_G->C 11 104819544 104819544 G C snp 539.77 1/1 42 19 2 17 0.89 intronic rs5001053 CASP4 AU NM_001225 exon4 c.3924+141G>C Uncertain 11_104819546_G->C 11 104819546 104819546 G C snp 495.53 1/1 3 19 2 17 0.89 intronic rs5004914 CASP4 AU NM_001225 exon4 c.3924+143G>C 0.989617 0.997 Uncertain 11_104820163_A->C 11 104820163 104820163 A C snp 1188.77 1/1 87 34 0 34 1.0 intronic rs649739 CASP4 AU NM_001225 exon5 c.4790-106A>C 0.920927 1 Uncertain 11_104839222_A->G 11 104839222 104839222 A G snp 2963.77 1/1 99 112 0 112 1.0 intronic rs658560 CASP4 AU NM_001225 exon9 c.23766-23A>G 0.733626 0.8026 0.691432 0.6635 0.8034 Uncertain 11_104866461_A->T 11 104866461 104866461 A T snp 3233.06 1/1 99 111 1 110 0.99 splicing rs540819 CASP5 AU 0.353634 0.5952 0.326642 0.3987 0.6064 Pathogenic 11_104869708_G->C 11 104869708 104869708 G C snp 2907.77 1/1 99 107 1 106 0.99 exonic rs523104 CASP5 AU nonsynonymous SNV NM_004347 exon7 c.C1000G p.L334V 0.529153 0.7728 0.453699 0.4648 0.7620 0.52 T 0.0 P -1.001 T 0.0 T 0.001 T ID=CM092500;DIS=Lung cancer, association with;TAG=DP;PUB=19203830 DP Pathogenic 11_104872981_C->T 11 104872981 104872981 C T snp 1507.77 1/1 77 57 1 56 0.98 intronic rs544211 CASP5 AU NM_004347 exon6 c.6458+53C>T 0.99381 1 Uncertain 11_104874179_-->GA 11 104874179 104874179 - GA indel 982.73 1/1 45 41 1 40 0.98 intronic rs3831481 CASP5 AU NM_004347 exon7 c.7640+69insGA 0.165735 0.0675 Uncertain 11_104877717_C->G 11 104877717 104877717 C G snp 1102.77 1/1 81 30 0 30 1.0 intronic rs2282658 CASP5 AU NM_004347 exon8 c.11339-92C>G 0.366613 0.2282 Uncertain 11_104877803_A->G 11 104877803 104877803 A G snp 4108.77 1/1 99 139 0 139 1.0 intronic rs2282657 CASP5 AU NM_004347 exon8 c.11339-6A>G 0.373203 0.256 0.418769 0.3242 0.2496 Uncertain 11_104877927_T->C 11 104877927 104877927 T C snp 5693.77 1/1 99 214 0 214 1.0 exonic rs507879 CASP5 AU nonsynonymous SNV NM_004347 exon3 c.A316G p.T106A 0.445288 0.2341 0.499308 0.4349 0.2178 1 T 0.0 P -0.941 T 0.0 T 0.0 T Pathogenic 11_104896375_G->T 11 104896375 104896375 G T snp 139.03 1/1 12 4 0 4 1.0 intronic rs2509648 CASP1 AU 1 1 1 1 Uncertain 11_104896844_A->G 11 104896844 104896844 A G snp 141.03 1/1 12 4 0 4 1.0 intronic rs1977989 CASP1 AU NM_001257118 exon1 c.99-239A>G 0.230032 0.2639 Uncertain 11_104914502_C->T 11 104914502 104914502 C T snp 624.77 1/1 48 16 0 16 1.0 intronic rs61890849 CARD16 AU NM_052889 exon2 c.20+230C>T 0.227636 0.2629 Uncertain 11_104914969_G->C 11 104914969 104914969 G C snp 75.28 1/1 9 3 0 3 1.0 intronic rs9326349 CARD16 AU NM_001017534 exon2 c.2992-149G>C 0.229433 0.2629 Uncertain 11_104971210_C->T 11 104971210 104971210 C T snp 1973.77 0/1 99 128 51 77 0.6 intronic rs1792771 CARD17 AU NM_001007232 exon3 c.1150-29C>T 0.521366 0.3948 0.622615 0.6056 0.4078 Uncertain 11_104972190_C->T 11 104972190 104972190 C T snp 3044.77 0/1 99 240 98 142 0.59 upstream rs1792773 CARD17 AU 0.563698 0.3958 0.657745 0.6107 0.4065 Uncertain 11_105668726_A->G 11 105668726 105668726 A G snp 40.77 0/1 31 3 1 2 0.67 intronic rs650951 GRIA4 AU NM_001112812 exon3 c.142222+44780A>G 0.416334 0.4008 Uncertain 11_105836923_G->A 11 105836923 105836923 G A snp 843.78 1/1 27 26 1 25 0.96 intronic rs632549 GRIA4 AU NM_001077243 exon15 c.355064+135G>A 0.998602 1 Uncertain 11_105842916_C->T 11 105842916 105842916 C T snp 441.77 1/1 33 13 0 13 1.0 intronic rs559190 GRIA4 AU NM_000829 exon15 c.361031+161C>T 0.995807 0.999 Uncertain 11_105844923_C->A 11 105844923 105844923 C A snp 1977.77 1/1 99 62 0 62 1.0 intronic rs509512 GRIA4 AU NM_000829 exon16 c.363312-113C>A 0.593251 0.6141 Uncertain 11_105961922_G->T 11 105961922 105961922 G T snp 217.84 1/1 18 8 0 8 1.0 intronic rs4474407 AASDHPPT AU NM_015423 exon4 c.13605-120G>T 0.217652 0.3294 Uncertain 11_106408032_CAAATG->- 11 106408032 106408037 CAAATG - indel 19830.7 1/1 99 223 0 223 1.0 intergenic rs11279851 LOC101928535 AU 0.505791 0.623 0.5064 0.6248 Uncertain 11_106408071_C->T 11 106408071 106408071 C T snp 5279.77 1/1 99 206 0 206 1.0 intergenic rs1791468 LOC101928535 AU 0.507588 0.622 0.473270 0.5137 0.6369 Uncertain 11_106408212_A->G 11 106408212 106408212 A G snp 717.77 1/1 54 18 0 18 1.0 intergenic rs2852371 LOC101928535 AU 0.467053 0.621 Uncertain 11_106579204_C->A 11 106579204 106579204 C A snp 1255.77 1/1 93 44 0 44 1.0 intronic rs12420232 GUCY1A2 AU NM_000855 exon2 c.20963-33C>A 0.393171 0.6855 0.324896 0.3898 0.6473 Uncertain 11_106680654_AATTT->- 11 106680654 106680658 AATTT - indel 1374.73 1/1 54 18 0 18 1.0 intronic rs141065153 GUCY1A2 AU NM_000855 exon4 c.122444-64_122444-60delAATTT 0.314497 0.3254 Uncertain 11_106695697_A->G 11 106695697 106695697 A G snp 2331.77 1/1 99 83 0 83 1.0 intronic rs77535954 GUCY1A2 AU NM_000855 exon4 c.122930+14493A>G 0.306909 0.3353 Uncertain 11_106807444_T->- 11 106807444 106807444 T - indel 1890.73 1/1 99 96 3 93 0.97 intronic rs11331245 GUCY1A2 AU NM_000855 exon5 c.251911-2741delT 0.527756 0.4782 0.4845 0.4766 Uncertain 11_106849520_T->C 11 106849520 106849520 T C snp 1625.77 1/1 99 60 0 60 1.0 intronic rs10890630 GUCY1A2 AU NM_000855 exon6 c.291192+54T>C 0.328874 0.3571 Uncertain 11_107197640_T->C 11 107197640 107197640 T C snp 1633.77 0/1 99 159 88 71 0.45 exonic rs3758911 CWF19L2 AU nonsynonymous SNV NM_152434 exon18 c.A2681G p.Y894C 0.25619 0.2927 0.294661 0.2998 0.2739 0.03 T 0.001 P -0.924 T 0.0 T 0.0 T Pathogenic 11_107205426_C->T 11 107205426 107205426 C T snp 126.77 0/1 99 10 3 7 0.7 intronic rs10789620 CWF19L2 AU NM_152434 exon3 c.7971-180C>T 0.245407 0.2927 Uncertain 11_107216388_C->T 11 107216388 107216388 C T snp 164.78 0/1 27 7 2 5 0.71 intronic rs474364 CWF19L2 AU NM_152434 exon5 c.22027-3274C>T 0.786741 0.7937 Uncertain 11_107216404_C->T 11 107216404 107216404 C T snp 141.03 1/1 12 4 0 4 1.0 intronic rs72990438 CWF19L2 AU NM_152434 exon5 c.22027-3258C>T 0.205871 0.256 Uncertain 11_107224225_G->A 11 107224225 107224225 G A snp 1327.77 0/1 99 94 47 47 0.5 intronic rs4576794 CWF19L2 AU NM_152434 exon6 c.26614-24G>A 0.208466 0.2569 0.238381 0.2764 0.2647 Uncertain 11_107313608_-->AGGAAGGA 11 107313608 107313608 - AGGAAGGA indel 2082.73 0/1 99 53 30 23 0.43 intronic rs144259680 CWF19L2 AU NM_152434 exon15 c.116029-56insAGGAAGGA 0.5625 0.6399 Uncertain 11_107375159_C->A 11 107375159 107375159 C A snp 200.77 0/1 97 10 3 7 0.7 UTR3 rs148650310 ALKBH8 AU 0.00519169 0.0179 Uncertain 11_107381533_G->A 11 107381533 107381533 G A snp 535.77 0/1 99 32 14 18 0.56 intronic rs655009 ALKBH8 AU NM_138775 exon2 c.6229-79G>A 0.34405 0.1845 Uncertain 11_107381765_G->A 11 107381765 107381765 G A snp 1776.77 0/1 99 151 75 76 0.5 splicing rs654093 ALKBH8 AU NM_138775 exon2 c.6379+3G>A 0.344649 0.1855 0.473281 0.4786 0.2115 Pathogenic 11_107402995_A->T 11 107402995 107402995 A T snp 829.77 0/1 99 62 32 30 0.48 intronic rs589788 ALKBH8 AU NM_138775 exon5 c.27642-30A>T 0.428514 0.1905 0.5389 0.2325 Uncertain 11_107403203_AG->- 11 107403203 107403204 AG - indel 2264.73 0/1 99 112 55 57 0.51 intronic rs5794554 ALKBH8 AU NM_138775 exon5 c.27749+71_27749+72delAG 0.35603 0.1895 0.482985 Uncertain 11_107420530_A->G 11 107420530 107420530 A G snp 2496.77 0/1 99 226 112 114 0.5 exonic rs645056 ALKBH8 AU synonymous SNV NM_001301010 exon7 c.T729C p.D243D 0.711462 0.6627 0.776172 0.8247 0.6897 Uncertain 11_107422434_T->A 11 107422434 107422434 T A snp 56.74 1/1 6 2 0 2 1.0 intronic rs1269387 ALKBH8 AU NM_138775 exon7 c.47150-99T>A 0.488419 0.4702 Uncertain 11_107502123_-->C 11 107502123 107502123 - C indel 153.74 1/1 26 9 0 9 1.0 intronic rs369809818 ELMOD1 AU NM_018712 exon5 c.13390-182insC Uncertain 11_107535758_G->A 11 107535758 107535758 G A snp 1036.77 0/1 99 84 45 39 0.46 exonic rs647756 ELMOD1 AU synonymous SNV NM_001130037 exon11 c.G816A p.L272L 0.28754 0.3234 0.214957 0.1385 0.3191 Uncertain 11_107578721_C->G 11 107578721 107578721 C G snp 401.77 0/1 99 48 31 17 0.35 UTR5 rs583362 SLN AU 0.653155 0.8234 Uncertain 11_107643102_T->A 11 107643102 107643102 T A snp 219.88 0/1 16 8 1 7 0.88 intergenic rs28695914 SLN AU 0.0312 0 Uncertain 11_107643289_T->G 11 107643289 107643289 T G snp 282.77 0/1 57 14 3 11 0.79 intergenic rs60511673 SLN AU 0.667532 0.4306 0.6482 0.4091 1 T -0.943 T Uncertain 11_107646918_G->A 11 107646918 107646918 G A snp 273.77 0/1 99 23 12 11 0.48 intergenic rs484427 SLN AU 0.372804 0.2728 0.3290 0.2302 Uncertain 11_107650473_G->A 11 107650473 107650473 G A snp 1112.77 1/1 78 44 0 44 1.0 intergenic rs650686 SLN AU 0.669129 0.6746 0.6908 0.6552 Uncertain 11_107650505_C->G 11 107650505 107650505 C G snp 162.77 0/1 99 39 29 10 0.26 intergenic rs519422 SLN AU 0.515375 0.4583 0.5898 0.4667 Uncertain 11_107663632_TTTC->- 11 107663632 107663635 TTTC - indel 920.73 1/1 48 32 0 32 1.0 intronic rs201085555 SLC35F2 AU NM_017515 exon1 c.186+106_186+109delTTTC Uncertain 11_107673560_C->T 11 107673560 107673560 C T snp 56.74 1/1 6 2 0 2 1.0 intronic rs7109020 SLC35F2 AU NM_017515 exon2 c.10386-166C>T 0.211861 0.3909 Uncertain 11_107673585_G->A 11 107673585 107673585 G A snp 227.84 1/1 18 7 0 7 1.0 intronic rs7109240 SLC35F2 AU NM_017515 exon2 c.10386-141G>A 0.211861 0.3909 Uncertain 11_107673630_AGA->- 11 107673630 107673632 AGA - indel 1586.73 1/1 84 28 0 28 1.0 intronic rs71047622 SLC35F2 AU NM_017515 exon2 c.10386-96_10386-94delAGA 0.211262 0.3909 Uncertain 11_107673674_C->T 11 107673674 107673674 C T snp 1735.77 1/1 99 58 0 58 1.0 intronic rs10502098 SLC35F2 AU NM_017515 exon2 c.10386-52C>T 0.211861 0.3909 Uncertain 11_107673710_G->A 11 107673710 107673710 G A snp 2542.77 1/1 99 93 1 92 0.99 intronic rs2305288 SLC35F2 AU NM_017515 exon2 c.10386-16G>A 0.211861 0.3909 0.130865 0.1227 0.4330 Uncertain 11_107673905_C->G 11 107673905 107673905 C G snp 1028.77 0/1 99 82 36 46 0.56 intronic rs2305287 SLC35F2 AU NM_017515 exon2 c.10541+24C>G 0.133387 0.2431 0.066911 0.0595 0.3171 Uncertain 11_107673925_C->T 11 107673925 107673925 C T snp 587.77 0/1 99 54 27 27 0.5 intronic rs2305286 SLC35F2 AU NM_017515 exon2 c.10541+44C>T 0.0680911 0.1478 0.054377 0.0648 0.1452 Uncertain 11_107673982_A->G 11 107673982 107673982 A G snp 383.77 1/1 30 11 0 11 1.0 intronic rs2305285 SLC35F2 AU NM_017515 exon2 c.10541+101A>G 0.21266 0.3919 Uncertain 11_107674020_A->C 11 107674020 107674020 A C snp 176.9 1/1 15 5 0 5 1.0 intronic rs2305284 SLC35F2 AU NM_017515 exon2 c.10541+139A>C 0.213059 0.3938 Uncertain 11_107674033_A->G 11 107674033 107674033 A G snp 50.74 1/1 6 2 0 2 1.0 intronic rs2305283 SLC35F2 AU NM_017515 exon2 c.10541+152A>G 0.213458 0.3948 Uncertain 11_107675710_A->C 11 107675710 107675710 A C snp 99.28 1/1 9 3 0 3 1.0 intronic rs17107492 SLC35F2 AU NM_017515 exon3 c.12156+214A>C 0.21226 0.3919 Uncertain 11_107676260_C->T 11 107676260 107676260 C T snp 1445.77 0/1 99 120 62 58 0.48 intronic rs71488279 SLC35F2 AU NM_017515 exon4 c.12901+19C>T 0.0676917 0.1478 0.052294 0.0650 0.1413 Uncertain 11_107676373_T->C 11 107676373 107676373 T C snp 119.77 0/1 99 7 3 4 0.57 intronic rs17107496 SLC35F2 AU NM_017515 exon4 c.12901+132T>C 0.143171 0.244 Uncertain 11_107677399_-->A 11 107677399 107677399 - A indel 7710.73 1/1 99 199 0 199 1.0 intronic rs34066069 SLC35F2 AU NM_017515 exon5 c.14102-43insA 0.617212 0.6131 0.632264 0.5939 0.6483 Uncertain 11_107677656_T->C 11 107677656 107677656 T C snp 816.77 0/1 99 74 38 36 0.49 intronic rs71488281 SLC35F2 AU NM_017515 exon5 c.14262+54T>C 0.0798722 0.1478 Uncertain 11_107682358_A->T 11 107682358 107682358 A T snp 2090.77 1/1 99 71 0 71 1.0 intronic rs11825238 SLC35F2 AU NM_017515 exon6 c.19052-34A>T 0.213458 0.3929 0.131233 0.1216 0.4380 Uncertain 11_107729205_C->G 11 107729205 107729205 C G snp 99.28 1/1 9 3 0 3 1.0 intronic rs11603925 SLC35F2 AU NM_017515 exon8 c.66043-178C>G 0.461262 0.4435 Uncertain 11_107729561_T->C 11 107729561 107729561 T C snp 713.77 1/1 54 19 0 19 1.0 UTR5 rs3741065 SLC35F2 AU 0.444089 0.4435 Uncertain 11_107879887_G->C 11 107879887 107879887 G C snp 170.9 1/1 15 5 0 5 1.0 UTR5 rs10736442 CUL5 AU 1 1 Uncertain 11_107904646_C->T 11 107904646 107904646 C T snp 3127.77 1/1 99 129 0 129 1.0 intronic rs10890800 CUL5 AU NM_003478 exon2 c.24563+9C>T 0.658746 0.9018 0.567801 0.6670 0.9015 Uncertain 11_107917087_A->G 11 107917087 107917087 A G snp 1820.77 1/1 99 67 0 67 1.0 exonic rs7117111 CUL5 AU synonymous SNV NM_003478 exon3 c.A225G p.Q75Q 0.662141 0.9038 0.569857 0.6693 0.9027 1.0 P -1.028 T Likely benign 11_107925327_C->T 11 107925327 107925327 C T snp 101.28 1/1 9 4 0 4 1.0 intronic rs3847562 CUL5 AU NM_003478 exon6 c.45299-46C>T 0.971246 0.999 0.975028 0.9916 0.9994 Uncertain 11_107948858_T->A 11 107948858 107948858 T A snp 130.77 0/1 30 8 2 6 0.75 intronic rs10890807 CUL5 AU NM_003478 exon11 c.68828-44T>A 0.369409 0.4206 0.308335 0.4522 0.4510 Uncertain 11_107965262_G->A 11 107965262 107965262 G A snp 82.77 0/1 99 9 4 5 0.56 intronic rs12792042 CUL5 AU NM_003478 exon14 c.85167+21G>A 0.268171 0.4831 0.123147 0.2029 0.4126 Uncertain 11_107992325_T->A 11 107992325 107992325 T A snp 1492.77 0/1 99 109 44 65 0.6 UTR5 rs3741055 ACAT1 AR 0.313698 0.3601 0.197573 0.3881 0.3333 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000077928.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 11_107992346_G->C 11 107992346 107992346 G C snp 1385.77 0/1 99 97 39 58 0.6 exonic rs3741056 ACAT1 AR nonsynonymous SNV NM_000019 exon1 c.G13C p.A5P 0.331869 0.3601 0.209707 0.4014 0.3417 0.02 T 0.0 P -1.057 T 0.61 T 0.208 P CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000077929.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 11_108004798_A->C 11 108004798 108004798 A C snp 327.77 0/1 99 23 11 12 0.52 intronic rs7931681 ACAT1 AR NM_000019 exon3 c.12331+134A>C 0.277756 0.5298 Uncertain 11_108006047_A->C 11 108006047 108006047 A C snp 3814.77 1/1 99 133 1 132 0.99 intronic rs10890817 ACAT1 AR NM_000019 exon5 c.13636+78A>C 0.589856 0.8919 Uncertain 11_108012510_-->AAGT 11 108012510 108012510 - AAGT indel 522.75 1/1 24 8 0 8 1.0 intronic rs10682490 ACAT1 AR NM_000019 exon8 c.20094+83insAAGT 0.989816 1 Uncertain 11_108013093_A->G 11 108013093 108013093 A G snp 2058.77 0/1 99 183 96 87 0.48 intronic rs10890818 ACAT1 AR NM_000019 exon9 c.20830-70A>G 0.190695 0.2718 Uncertain 11_108013361_C->T 11 108013361 108013361 C T snp 44.77 0/1 31 3 1 2 0.67 intronic rs12794010 ACAT1 AR NM_000019 exon9 c.20944+84C>T 0.262181 0.5298 Uncertain 11_108014685_C->- 11 108014685 108014685 C - indel 430.73 1/1 35 25 1 24 0.96 intronic rs577833370 ACAT1 AR NM_000019 exon10 c.22376-24delC 0.483826 0.5377 0.4745 0.5042 Uncertain 11_108014799_C->T 11 108014799 108014799 C T snp 522.77 0/1 99 63 36 27 0.43 intronic rs10890819 ACAT1 AR NM_000019 exon10 c.22441+25C>T 0.308506 0.3383 0.243653 0.3421 0.3186 Uncertain 11_108043988_C->T 11 108043988 108043988 C T snp 533.77 0/1 99 59 36 23 0.39 exonic rs2070661 NPAT AU nonsynonymous SNV NM_002519 exon13 c.G1723A p.V575I 0.615615 0.4554 0.593223 0.5950 0.4456 0.93 T 0.0 P -0.944 T 0.0 T 0.0 T Pathogenic 11_108044091_T->A 11 108044091 108044091 T A snp 1229.77 0/1 99 80 31 49 0.61 exonic rs4144901 NPAT AU nonsynonymous SNV NM_002519 exon13 c.A1620T p.L540F 0.103035 0.2183 0.116106 0.1216 0.2182 0.13 T 0.000 P -1.076 T 0.977 D 0.847 D Pathogenic 11_108057430_G->A 11 108057430 108057430 G A snp 41.77 0/1 70 4 2 2 0.5 intronic rs4753833 NPAT AU NM_002519 exon11 c.27628+134G>A 0.487021 0.4296 Uncertain 11_108059000_T->C 11 108059000 108059000 T C snp 414.77 0/1 99 29 16 13 0.45 intronic rs3781869 NPAT AU NM_002519 exon12 c.29238+94T>C 0.48762 0.4296 Uncertain 11_108061379_C->T 11 108061379 108061379 C T snp 518.77 1/1 39 15 0 15 1.0 intronic rs659584 NPAT AU NM_002519 exon14 c.31559+152C>T 0.991214 0.999 Uncertain 11_108064935_A->G 11 108064935 108064935 A G snp 245.8 0/1 21 11 2 9 0.82 intronic rs11212546 NPAT AU NM_002519 exon16 c.35076+191A>G 0.476637 0.4296 Uncertain 11_108068954_T->C 11 108068954 108068954 T C snp 1062.77 1/1 75 39 0 39 1.0 intronic rs683312 NPAT AU NM_002519 exon17 c.38479+807T>C 0.803315 0.6766 Uncertain 11_108093208_A->T 11 108093208 108093208 A T snp 1314.77 0/1 99 98 42 56 0.57 intronic rs228589 NPAT AU NM_002519 exon18 c.63558-18A>T 0.539137 0.4454 0.527905 0.5720 0.4381 Uncertain 11_108098460_AA->- 11 108098460 108098461 AA - indel 1150.73 0/1 99 67 41 26 0.39 intronic rs2066734 ATM AR,AD,AU NM_000051 exon2 c.72+37_72+38delAA 0.38119 0.3839 0.335730 0.4253 0.3876 Uncertain 11_108115361_T->- 11 108115361 108115361 T - indel 255.74 1/1 30 10 0 10 1.0 intronic rs11298747 ATM AR,AD,AU NM_000051 exon7 c.17163-153delT Uncertain 11_108129657_A->G 11 108129657 108129657 A G snp 1064.77 0/1 99 73 27 46 0.63 intronic rs672655 ATM AR,AD,AU NM_000051 exon16 c.31361-55A>G 0.476438 0.4196 0.479185 Uncertain 11_108137775_T->A 11 108137775 108137775 T A snp 450.77 0/1 99 37 20 17 0.46 intronic rs642496 ATM AR,AD,AU NM_000051 exon17 c.39546-122T>A 0.681909 0.4464 Uncertain 11_108143182_C->T 11 108143182 108143182 C T snp 497.77 0/1 99 27 9 18 0.67 intronic rs664677 ATM AR,AD,AU NM_000051 exon21 c.44907-76C>T 0.652556 0.4067 Uncertain 11_108151707_-->A 11 108151707 108151707 - A indel 594.73 0/1 99 29 10 19 0.66 intronic rs3218681 ATM AR,AD,AU NM_000051 exon24 c.53370-14insA 0.542133 0.4058 0.556652 0.5675 0.3845 CLINSIG=non-pathogenic;CLNDBN=Hereditary_cancer-predisposing_syndrome;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000129178.1;CLNDSDB=MedGen:SNOMED_CT;CLNDSDBID=C0027672:699346009 Uncertain 11_108183167_A->G 11 108183167 108183167 A G snp 1578.77 1/1 99 61 0 61 1.0 exonic rs659243 ATM AR,AD,AU nonsynonymous SNV NM_000051 exon40 c.A5948G p.N1983S 1 1 1 1 1 T 0.0 P -0.932 T 0.0 T 0.0 T CLINSIG=non-pathogenic,non-pathogenic;CLNDBN=Hereditary_cancer-predisposing_syndrome,not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter,criteria_provided\x2c_single_submitter;CLNACC=RCV000128947.1,RCV000120149.1;CLNDSDB=MedGen:SNOMED_CT,MedGen;CLNDSDBID=C0027672:699346009,CN169374 Pathogenic 11_108203769_G->A 11 108203769 108203769 G A snp 136.03 1/1 12 4 0 4 1.0 intronic rs227059 ATM AR,AD,AU NM_000051 exon53 c.105276+142G>A 0.997005 1 Uncertain 11_108216818_T->C 11 108216818 108216818 T C snp 74.77 0/1 99 7 4 3 0.43 intronic rs11212591 ATM AR,AD,AU NM_000051 exon58 c.118284+183T>C 0.0189696 0.0823 Uncertain 11_108218196_T->C 11 108218196 108218196 T C snp 37.77 0/1 66 4 2 2 0.5 intronic rs227075 ATM AR,AD,AU NM_000051 exon59 c.119741+104T>C 0.630192 0.4464 Uncertain 11_108224697_G->A 11 108224697 108224697 G A snp 1924.77 1/1 99 64 0 64 1.0 intronic rs179108 ATM AR,AD,AU NM_000051 exon60 c.126256+90G>A 1 1 Uncertain 11_108225483_C->T 11 108225483 108225483 C T snp 245.77 0/1 99 33 23 10 0.3 intronic rs664982 ATM AR,AD,AU NM_000051 exon61 c.127186-54C>T 0.535144 0.4345 0.518178 Uncertain 11_108225661_A->G 11 108225661 108225661 A G snp 1380.77 0/1 99 119 58 61 0.51 intronic rs664143 ATM AR,AD,AU NM_000051 exon61 c.127250+60A>G 0.628195 0.4474 0.602278 Uncertain 11_108256837_A->T 11 108256837 108256837 A T snp 83.77 0/1 69 6 2 4 0.67 intronic rs113995 C11orf65 AU NM_152587 exon2 c.2955+135A>T 0.534944 0.4345 Uncertain 11_108256859_C->T 11 108256859 108256859 C T snp 77.77 0/1 69 5 2 3 0.6 intronic rs597788 C11orf65 AU NM_152587 exon2 c.2955+157C>T 0.323482 0.3552 Uncertain 11_108276091_C->G 11 108276091 108276091 C G snp 542.77 0/1 99 38 16 22 0.58 intronic rs9667658 C11orf65 AU NM_152587 exon4 c.22408-64C>G 0.339257 0.5546 Uncertain 11_108345515_-->A 11 108345515 108345515 - A indel 1078.73 0/1 99 67 38 29 0.43 UTR3 rs11374964 KDELC2 AU 0.483027 0.4563 0.420194 0.4644 0.4720 Uncertain 11_108352160_C->T 11 108352160 108352160 C T snp 789.77 1/1 57 26 0 26 1.0 intronic rs3901850 KDELC2 AU NM_153705 exon4 c.6550+57C>T 0.997005 1 Uncertain 11_108361578_G->A 11 108361578 108361578 G A snp 659.77 0/1 99 52 29 23 0.44 intronic rs11212676 KDELC2 AU NM_153705 exon7 c.16143-118G>A 0.405152 0.4246 Uncertain 11_108369173_G->A 11 108369173 108369173 G A snp 40.77 0/1 33 3 1 2 0.67 upstream rs74822968 KDELC2 AU 0.171725 0.1726 Uncertain 11_108380335_T->C 11 108380335 108380335 T C snp 6132.77 1/1 99 230 1 229 1.0 exonic rs1943382 EXPH5 AR nonsynonymous SNV NM_015065 exon6 c.A5899G p.N1967D 1 1 0.999385 0.9999 1 1 T 0.000 P -0.935 T 0.0 T 0.0 T Pathogenic 11_108381247_C->T 11 108381247 108381247 C T snp 2225.77 0/1 99 223 131 92 0.41 exonic rs2640779 EXPH5 AR nonsynonymous SNV NM_015065 exon6 c.G4987A p.G1663R 0.286342 0.6419 0.177950 0.2921 0.6674 0.5 T 0.0 P -1.110 T 0.049 T 0.017 T Pathogenic 11_108381341_A->G 11 108381341 108381341 A G snp 2140.77 0/1 99 196 104 92 0.47 exonic rs3802836 EXPH5 AR synonymous SNV NM_015065 exon6 c.T4893C p.H1631H 0.00179712 0.0089 0.000077 0.0011 0.0157 Uncertain 11_108383676_A->G 11 108383676 108383676 A G snp 1961.77 0/1 99 175 96 79 0.45 exonic rs10749920 EXPH5 AR nonsynonymous SNV NM_015065 exon6 c.T2558C p.L853P 0.358427 0.2093 0.327820 0.2379 0.2040 0.96 T 0.0 P -0.979 T 0.0 T 0.0 T Pathogenic 11_108384207_C->T 11 108384207 108384207 C T snp 5576.77 1/1 99 196 0 196 1.0 exonic rs2846412 EXPH5 AR nonsynonymous SNV NM_015065 exon6 c.G2027A p.S676N 0.641174 0.8542 0.501616 0.5286 0.8756 1 T 0.0 P -1.021 T 0.0 T 0.0 T Pathogenic 11_108409784_T->A 11 108409784 108409784 T A snp 2418.77 0/1 99 225 114 111 0.49 exonic rs2640785 EXPH5 AR nonsynonymous SNV NM_015065 exon3 c.A410T p.E137V 0.252396 0.5804 0.134098 0.2322 0.6011 0 D 1.0 P -0.888 T 0.989 D 0.836 D Pathogenic 11_108464209_T->C 11 108464209 108464209 T C snp 4110.77 1/1 99 149 0 149 1.0 exonic rs2640738 EXPH5 AR nonsynonymous SNV NM_015065 exon1 c.A55G p.R19G 0.388179 0.3839 0.400754 0.4514 0.3756 0.02 T 1.000 P -0.929 T 0.998 D 0.948 D Pathogenic 11_108535792_C->T 11 108535792 108535792 C T snp 736.77 0/1 99 41 12 29 0.71 UTR5 rs2306118 DDX10 AU 0.396765 0.4335 Uncertain 11_108546468_A->G 11 108546468 108546468 A G snp 671.77 0/1 99 78 45 33 0.42 intronic rs11212754 DDX10 AU NM_004398 exon3 c.10573+15A>G 0.161542 0.2837 0.097553 0.1587 0.2612 Uncertain 11_108549179_T->G 11 108549179 108549179 T G snp 379.77 0/1 99 33 15 18 0.55 intronic rs2306117 DDX10 AU NM_004398 exon5 c.13282+17T>G 0.161741 0.2837 0.097553 0.1601 0.2676 Uncertain 11_108549187_A->- 11 108549187 108549187 A - indel 304.73 0/1 99 31 12 19 0.61 intronic rs768009727 DDX10 AU NM_004398 exon5 c.13282+25delA 0.107588 0.3194 0.3196 Uncertain 11_108577360_-->A 11 108577360 108577360 - A indel 373.73 0/1 99 18 7 11 0.61 intronic rs3214898 DDX10 AU NM_004398 exon10 c.41585-105insA 0.163339 0.2847 Uncertain 11_108577646_C->T 11 108577646 108577646 C T snp 394.77 0/1 99 31 14 17 0.55 intronic rs61914000 DDX10 AU NM_004398 exon10 c.41684+82C>T 0.163139 0.2847 Uncertain 11_108594237_G->A 11 108594237 108594237 G A snp 592.77 0/1 99 42 21 21 0.5 intronic rs11212765 DDX10 AU NM_004398 exon13 c.58309+48G>A 0.16234 0.2857 0.094578 0.1612 0.2671 Uncertain 11_108722851_C->G 11 108722851 108722851 C G snp 908.77 0/1 99 72 35 37 0.51 intronic rs10890899 DDX10 AU NM_004398 exon16 c.186999-28C>G 0.369209 0.4028 0.444975 0.5580 0.4454 Uncertain 11_108723102_T->C 11 108723102 108723102 T C snp 158.77 0/1 99 8 3 5 0.63 intronic rs2553755 DDX10 AU NM_004398 exon16 c.187056+166T>C 0.180911 0.2847 Uncertain 11_109963745_C->G 11 109963745 109963745 C G snp 223.8 1/1 21 7 0 7 1.0 upstream rs4356188 ZC3H12C AU 0.727436 0.9038 Uncertain 11_109964007_A->G 11 109964007 109964007 A G snp 4474.77 1/1 99 174 2 172 0.99 upstream rs7116424 ZC3H12C AU 0.727436 0.9038 Uncertain 11_109964079_C->A 11 109964079 109964079 C A snp 2295.77 1/1 99 77 0 77 1.0 upstream rs7116552 ZC3H12C AU 1 1 Uncertain 11_109964089_-->G 11 109964089 109964089 - G indel 3137.73 1/1 99 71 0 71 1.0 UTR5 rs11395531 ZC3H12C AU 1 1 0.997800 1 . Uncertain 11_109964187_G->A 11 109964187 109964187 G A snp 794.77 0/1 99 56 20 36 0.64 intronic rs7116896 ZC3H12C AU NM_033390 exon1 c.21+29G>A 0.349441 0.253 0.5126 0.4848 Uncertain 11_109964257_A->G 11 109964257 109964257 A G snp 939.77 1/1 66 40 0 40 1.0 intronic rs7116683 ZC3H12C AU NM_033390 exon1 c.21+99A>G 0.727436 0.9038 Uncertain 11_110023628_C->T 11 110023628 110023628 C T snp 1579.77 1/1 99 50 0 50 1.0 intronic rs665013 ZC3H12C AU NM_033390 exon3 c.59506-15C>T 0.706869 0.8016 0.682337 0.7469 0.7733 Uncertain 11_110033860_T->C 11 110033860 110033860 T C snp 107.77 0/1 99 9 5 4 0.44 intronic rs11213287 ZC3H12C AU NM_033390 exon5 c.69860-137T>C 0.421925 0.5774 Uncertain 11_110034941_A->G 11 110034941 110034941 A G snp 141.03 1/1 12 4 0 4 1.0 intronic rs685195 ZC3H12C AU NM_033390 exon6 c.70928-124A>G 0.999201 1 Uncertain 11_110050502_C->T 11 110050502 110050502 C T snp 222.77 0/1 99 35 22 13 0.37 intergenic rs11213291 ZC3H12C AU 0.663339 0.8363 Uncertain 11_110103924_A->C 11 110103924 110103924 A C snp 135.03 1/1 12 4 0 4 1.0 intronic rs10450619 RDX AR NM_002906 exon2 c.1368-37A>C 0.43111 0.6389 0.388214 0.4177 0.6069 Uncertain 11_110118364_A->C 11 110118364 110118364 A C snp 1855.77 1/1 99 64 0 64 1.0 intronic rs17110988 RDX AR NM_002906 exon5 c.15834-63A>C 0.42512 0.6419 Uncertain 11_110126197_A->G 11 110126197 110126197 A G snp 1585.77 1/1 99 60 0 60 1.0 intronic rs2306085 RDX AR NM_002906 exon7 c.23517+87A>G 0.431909 0.6389 Uncertain 11_110128994_C->G 11 110128994 110128994 C G snp 618.77 0/1 99 49 24 25 0.51 intronic rs10789756 RDX AR NM_001260496 exon4 c.58578+80C>G 0.329073 0.5337 Uncertain 11_110150487_A->- 11 110150487 110150487 A - indel 155.73 0/1 99 21 7 14 0.67 splicing rs61003001 RDX AR NM_001260496 exon7 c.80145+6delA 0.46845 0.5526 Pathogenic 11_110306748_-->T 11 110306748 110306748 - T indel 127.73 0/1 99 25 8 17 0.68 intronic rs35520653 FDX1 AU NM_004109 exon2 c.5838+66insT Uncertain 11_110327745_C->T 11 110327745 110327745 C T snp 1314.77 0/1 99 140 77 63 0.45 exonic rs118180369 FDX1 AU synonymous SNV NM_004109 exon3 c.C414T p.L138L 0.00399361 0.005 0.000462 0.0024 0.0055 Uncertain 11_110333030_-->AT 11 110333030 110333030 - AT indel 2184.73 0/1 99 149 86 63 0.42 intronic rs3831392 FDX1 AU NM_004109 exon4 c.32233-47insAT 0.182508 0.381 0.063498 0.1198 0.3139 Uncertain 11_110451505_T->C 11 110451505 110451505 T C snp 2440.77 0/1 99 232 126 106 0.46 exonic rs140192944 ARHGAP20 AU nonsynonymous SNV NM_001258415 exon15 c.A2096G p.Y699C 0.00119808 0.005 0.0004 0.0054 0.15 T 1.000 N -1.045 T 0.54 P 0.247 P Pathogenic 11_110452999_C->A 11 110452999 110452999 C A snp 583.77 0/1 99 42 23 19 0.45 intronic rs2008772 ARHGAP20 AU NM_001258418 exon2 c.2951-45C>A 0.763778 0.8294 0.774658 0.8299 0.8479 Uncertain 11_110453009_G->A 11 110453009 110453009 G A snp 721.77 0/1 99 53 29 24 0.45 intronic rs4079590 ARHGAP20 AU NM_001258418 exon2 c.2951-35G>A 0.736222 0.8254 0.755809 0.8213 0.8470 Uncertain 11_110453250_C->G 11 110453250 110453250 C G snp 414.77 0/1 99 29 15 14 0.48 intronic rs4142632 ARHGAP20 AU NM_001258418 exon2 c.3066+91C>G 0.763978 0.8294 Uncertain 11_110485224_C->A 11 110485224 110485224 C A snp 777.77 0/1 99 87 55 32 0.37 intronic ARHGAP20 AU NM_001258418 exon10 c.35191-60C>A Uncertain 11_110582310_T->C 11 110582310 110582310 T C snp 462.77 0/1 99 47 25 22 0.47 intronic rs2305289 ARHGAP20 AU NM_001258415 exon15 c.132287-70T>C 0.319089 0.2331 Uncertain 11_111154657_C->T 11 111154657 111154657 C T snp 62.77 0/1 91 11 8 3 0.27 intronic rs4938398 C11orf53 AU NM_198498 exon3 c.2642-143C>T 0.257788 0.1766 Uncertain 11_111156836_T->C 11 111156836 111156836 T C snp 569.77 0/1 99 64 40 24 0.38 UTR3 rs3087967 C11orf53 AU 0.733027 0.6022 Uncertain 11_111177460_A->C 11 111177460 111177460 A C snp 213.77 0/1 99 18 9 9 0.5 intronic rs75268871 COLCA2 AU NM_001136105 exon4 c.96+112A>C 0.0207668 0.0655 Uncertain 11_111179054_A->G 11 111179054 111179054 A G snp 2108.77 0/1 99 171 88 83 0.49 exonic rs3087587 COLCA2 AU synonymous SNV NM_001136105 exon5 c.A357G p.A119A 0.360623 0.4345 0.431888 0.4521 0.4416 Uncertain 11_111228050_C->T 11 111228050 111228050 C T snp 158.77 0/1 99 15 9 6 0.4 intronic rs1815950 POU2AF1 AU NM_006235 exon2 c.3184-119C>T 0.572484 0.3859 Uncertain 11_111229470_T->C 11 111229470 111229470 T C snp 446.77 0/1 99 46 28 18 0.39 intronic rs12282082 POU2AF1 AU NM_006235 exon4 c.4527-42T>C 0.573083 0.3919 0.711900 0.6425 0.4322 Uncertain 11_111249785_C->G 11 111249785 111249785 C G snp 158.77 0/1 99 11 5 6 0.55 intronic rs11213863 POU2AF1 AU NM_006235 exon5 c.24901-101C>G 0.436302 0.3185 Uncertain 11_111249819_A->G 11 111249819 111249819 A G snp 250.77 0/1 99 25 13 12 0.48 intronic rs10789825 POU2AF1 AU NM_006235 exon5 c.24901-67A>G 0.473043 0.3204 0.601183 Uncertain 11_111275133_G->A 11 111275133 111275133 G A snp 149.77 0/1 99 13 7 6 0.46 intergenic rs4938534 POU2AF1 AU 0.491014 0.4841 Uncertain 11_111275250_T->C 11 111275250 111275250 T C snp 861.77 0/1 99 91 54 37 0.41 intergenic rs4938535 POU2AF1 AU 0.234625 0.2887 Uncertain 11_111324146_A->C 11 111324146 111324146 A C snp 2789.77 0/1 99 214 97 117 0.55 intergenic rs61896867 LOC100132078 AU 0.133187 0.1627 0.1704 0.1919 0.43 T 0.0 P -1.049 T 0.004 T 0.004 T Uncertain 11_111326259_G->C 11 111326259 111326259 G C snp 37.77 0/1 66 6 4 2 0.33 intergenic rs7929094 LOC100132078 AU 0.874201 0.8839 Uncertain 11_111326284_T->C 11 111326284 111326284 T C snp 1003.77 1/1 75 30 0 30 1.0 intergenic rs7925584 LOC100132078 AU 0.995607 1 Uncertain 11_111327213_G->A 11 111327213 111327213 G A snp 3277.77 1/1 99 113 0 113 1.0 intergenic rs11213913 LOC100132078 AU 0.899361 1 0.9849 1 Uncertain 11_111368047_G->T 11 111368047 111368047 G T snp 2641.77 1/1 99 102 0 102 1.0 exonic rs489078 BTG4 AU synonymous SNV NM_017589 exon4 c.C399A p.A133A 0.978634 1 0.980609 0.9943 1 Uncertain 11_111383789_C->T 11 111383789 111383789 C T snp 1321.77 1/1 93 54 0 54 1.0 upstream;downstream rs11606481 BTG4 AU 0.558706 0.7143 0.571908 0.6375 0.7482 Uncertain 11_111383846_C->T 11 111383846 111383846 C T snp 338.77 0/1 99 23 10 13 0.57 upstream;downstream rs2187473 BTG4 AU 0.152955 0.1438 Uncertain 11_111384006_G->A 11 111384006 111384006 G A snp 388.77 1/1 30 13 0 13 1.0 upstream;downstream rs2156719 BTG4 AU 0.967851 1 Uncertain 11_111420364_A->G 11 111420364 111420364 A G snp 1793.77 1/1 99 58 0 58 1.0 exonic rs634679 LAYN AU synonymous SNV NM_178834 exon3 c.A405G p.P135P 0.963858 0.999 0.962373 0.9894 1 Uncertain 11_111422217_C->T 11 111422217 111422217 C T snp 263.8 1/1 21 9 0 9 1.0 intronic rs663763 LAYN AU NM_001258390 exon4 c.8932+1717C>T 0.621406 0.9514 Uncertain 11_111487106_C->G 11 111487106 111487106 C G snp 1964.77 1/1 99 71 0 71 1.0 intronic rs571462 SIK2 AU NM_015191 exon2 c.13796+23C>G 0.638379 0.9514 0.552632 0.7019 0.9628 Uncertain 11_111623088_T->A 11 111623088 111623088 T A snp 1491.77 0/1 99 174 107 67 0.39 intronic PPP2R1B AR NM_001177562 exon6 c.10737+32T>A 0.753195 0.7837 0.745383 0.7089 0.7653 Uncertain 11_111625566_T->C 11 111625566 111625566 T C snp 252.77 0/1 99 16 7 9 0.56 intronic PPP2R1B AR NM_001177562 exon8 c.13384-137T>C 0.169329 0.1925 Uncertain 11_111635655_T->C 11 111635655 111635655 T C snp 528.77 0/1 99 53 33 20 0.38 intronic PPP2R1B AR NM_001177562 exon12 c.23310+26T>C 0.214856 0.1548 0.260926 0.2658 0.1602 Uncertain 11_111636627_T->G 11 111636627 111636627 T G snp 1372.77 0/1 99 106 53 53 0.5 intronic PPP2R1B AR NM_001177562 exon14 c.24652-344T>G 0.753195 0.7837 0.6670 0.7348 Uncertain 11_111637020_T->C 11 111637020 111637020 T C snp 1844.77 0/1 99 171 87 84 0.49 exonic PPP2R1B AR synonymous SNV NM_002716 exon1 c.A66G p.L22L 0.0201677 0.0764 0.000693 0.0126 0.0893 Uncertain 11_111659476_C->A 11 111659476 111659476 C A snp 133.03 1/1 12 5 1 4 0.8 intronic rs2554996 ALG9 AU,AR NM_001077690 exon1 c.124+2232C>A 0.987021 0.9782 Uncertain 11_111715570_G->C 11 111715570 111715570 G C snp 38.77 0/1 67 5 3 2 0.4 intronic ALG9 AU,AR NM_001077690 exon7 c.58326+124G>C 0.243411 0.1915 Uncertain 11_111741106_A->C 11 111741106 111741106 A C snp 92.77 0/1 58 6 2 4 0.67 intronic ALG9 AU,AR NM_001077690 exon14 c.83973+13A>C 0.238219 0.1875 0.1294 0.2262 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000082206.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 11_111742146_G->- 11 111742146 111742146 G - indel 3825.73 1/1 99 86 0 86 1.0 splicing rs10708475 ALG9 AU,AR NM_001077690 exon16 c.85026delG 1 1 0.999604 1 1 Pathogenic 11_111747297_A->G 11 111747297 111747297 A G snp 1555.77 0/1 99 141 73 68 0.48 exonic FDXACB1 AU synonymous SNV NM_138378 exon4 c.T600C p.F200F 0.245208 0.1944 0.280353 0.2769 0.1842 Uncertain 11_111747427_C->T 11 111747427 111747427 C T snp 478.77 0/1 99 27 10 17 0.63 intronic FDXACB1 AU NM_138378 exon2 c.1718+64C>T 0.719848 0.7808 Uncertain 11_111749349_A->T 11 111749349 111749349 A T snp 5376.77 1/1 99 196 0 196 1.0 exonic FDXACB1 AU nonsynonymous SNV NM_138378 exon2 c.T260A p.I87N 0.92472 0.9712 0.861241 0.8895 0.9827 1 T 1.0 P -0.942 T 0.0 T 0.0 T Pathogenic 11_111750347_C->T 11 111750347 111750347 C T snp 1435.77 0/1 99 117 51 66 0.56 intronic C11orf1 AU NM_022761 exon1 c.45+18C>T 0.00239617 0.0119 0.0013 0.0179 Uncertain 11_111750430_A->G 11 111750430 111750430 A G snp 1224.77 0/1 99 82 38 44 0.54 intronic rs7107213 C11orf1 AU NM_022761 exon1 c.45+101A>G 0.244609 0.1915 Uncertain 11_111754368_A->T 11 111754368 111754368 A T snp 143.77 0/1 99 15 8 7 0.47 intronic C11orf1 AU NM_022761 exon4 c.4210-126A>T 0.245607 0.1915 Uncertain 11_111754574_A->C 11 111754574 111754574 A C snp 1404.77 0/1 99 147 87 60 0.41 exonic C11orf1 AU synonymous SNV NM_022761 exon4 c.A423C p.S141S 0.239617 0.1905 0.272545 0.2700 0.1829 0.03 T 1.000 P -0.941 T Likely benign 11_111780837_G->A 11 111780837 111780837 G A snp 556.77 0/1 99 35 16 19 0.54 intronic CRYAB AR,AD NM_001885 exon2 c.1563-213G>A 0.238219 0.1905 Uncertain 11_111781047_A->C 11 111781047 111781047 A C snp 2456.77 0/1 99 231 131 100 0.43 splicing CRYAB AR,AD NM_001885 exon2 c.1563-3A>C 0.239816 0.1905 0.272392 0.2695 0.1823 0.04 T 0.0 P -1.030 T 0.0 T 0.001 T CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter|criteria_provided\x2c_single_submitter;CLNACC=RCV000037213.2|RCV000124611.1;CLNDSDB=MedGen|MedGen;CLNDSDBID=CN169374|CN221809 Pathogenic 11_111783685_A->C 11 111783685 111783685 A C snp 43.77 0/1 72 16 12 4 0.25 ncRNA_intronic HSPB2-C11orf52 AU 0.0165 0.0297 Uncertain 11_111783973_A->T 11 111783973 111783973 A T snp 786.77 1/1 60 23 0 23 1.0 ncRNA_intronic HSPB2-C11orf52 AU 1 1 Uncertain 11_111848362_G->- 11 111848362 111848362 G - indel 1151.73 1/1 84 28 0 28 1.0 UTR5 rs11364849 DIXDC1 AU 1 1 Uncertain 11_111853106_-->C 11 111853106 111853106 - C indel 4203.73 1/1 99 108 0 108 1.0 exonic rs11455434 DIXDC1 AU unknown 1 1 1 1 Uncertain 11_111889654_C->T 11 111889654 111889654 C T snp 305.77 0/1 99 23 9 14 0.61 intronic DIXDC1 AU NM_033425 exon16 c.41183-25C>T 0.791334 0.8343 0.790881 0.7411 0.8198 Uncertain 11_111896424_G->T 11 111896424 111896424 G T snp 2242.77 0/1 99 225 127 98 0.44 exonic DLAT AR nonsynonymous SNV NM_001931 exon1 c.G228T p.Q76H 0.15 T 1 D -1.120 T 0.989 D 0.804 D Pathogenic 11_111915765_-->A 11 111915765 111915765 - A indel 802.73 1/1 43 46 3 43 0.93 intronic DLAT AR NM_001931 exon9 c.19665-96insA 0.779353 0.75 Uncertain 11_111916002_G->- 11 111916002 111916002 G - indel 3454.73 1/1 99 84 0 84 1.0 intronic DLAT AR NM_001931 exon9 c.19758+48delG 1 1 1.0000 1 Uncertain 11_111956989_C->A 11 111956989 111956989 C A snp 3551.77 1/1 99 134 2 132 0.99 intronic rs14396 TIMM8B AU NM_012459 exon2 c.1345-374C>A 0.982628 1 0.9991 1 Uncertain 11_111957143_T->C 11 111957143 111957143 T C snp 2307.77 1/1 99 75 0 75 1.0 intronic rs487201 TIMM8B AU NM_012459 exon2 c.1345-220T>C 0.945687 1 Uncertain 11_111957819_G->T 11 111957819 111957819 G T snp 1163.77 0/1 99 84 40 44 0.52 intronic rs7121782 SDHD AU,AD,AR NM_001276503 exon1 c.52+136G>T 0.345248 0.5923 Uncertain 11_112040136_T->C 11 112040136 112040136 T C snp 239.77 0/1 99 29 19 10 0.34 intronic rs11214106 TEX12 AU NM_031275 exon2 c.63+82T>C 0.15655 0.4048 Uncertain 11_112041129_TTTGTCCTG->- 11 112041129 112041137 TTTGTCCTG - indel 3763.73 0/1 99 100 65 35 0.35 splicing rs149903853 TEX12 AU NM_031275 exon3 c.1150-12_1150-4delTTTGTCCTG 0.469649 0.4702 0.368712 0.3890 0.4652 Pathogenic 11_112064431_T->C 11 112064431 112064431 T C snp 4487.77 1/1 99 145 0 145 1.0 intronic rs7105056 BCO2 AU NM_001256397 exon3 c.14406+11T>C 0.946086 1 0.946137 0.9689 0.9994 Uncertain 11_112065434_T->C 11 112065434 112065434 T C snp 4710.77 1/1 99 179 0 179 1.0 exonic rs10891338 BCO2 AU nonsynonymous SNV NM_001256400 exon4 c.T377C p.L126P 0.970447 1 0.972684 0.9763 0.9995 1 T 0.564 P -0.923 T 0.0 T 0.0 T Pathogenic 11_112065483_A->C 11 112065483 112065483 A C snp 1455.77 0/1 99 151 82 69 0.46 splicing rs7123686 BCO2 AU NM_001256397 exon5 c.15464+5A>C 0.468251 0.4683 0.381194 0.3904 0.4800 Pathogenic 11_112071570_A->T 11 112071570 112071570 A T snp 1920.77 1/1 99 60 0 60 1.0 intronic rs7948124 BCO2 AU NM_001256397 exon7 c.21482+74A>T 0.992212 1 Uncertain 11_112071571_A->T 11 112071571 112071571 A T snp 1900.77 1/1 99 58 0 58 1.0 intronic rs7948125 BCO2 AU NM_001256397 exon7 c.21482+75A>T 0.939896 0.9921 Uncertain 11_112072930_G->A 11 112072930 112072930 G A snp 931.77 0/1 99 66 28 38 0.58 intronic rs4935984 BCO2 AU NM_001256397 exon8 c.22899+17G>A 0.46845 0.4683 0.381348 0.3919 0.4799 Uncertain 11_112073016_T->C 11 112073016 112073016 T C snp 74.77 0/1 99 6 3 3 0.5 intronic rs11214131 BCO2 AU NM_001256397 exon8 c.22899+103T>C 0.161142 0.3978 Uncertain 11_112087101_T->A 11 112087101 112087101 T A snp 2253.77 1/1 99 73 0 73 1.0 intronic rs2676377 BCO2 AU NM_001256397 exon11 c.37039+48T>A 0.647165 0.8085 0.604356 0.6774 0.8168 Uncertain 11_112088499_A->C 11 112088499 112088499 A C snp 2689.77 1/1 99 105 0 105 1.0 exonic rs2217401 BCO2 AU nonsynonymous SNV NM_001256398 exon10 c.A1423C p.I475L 0.986621 1 0.984072 0.9953 1 1 T 0.000 P -0.931 T 0.0 T 0.0 T Pathogenic 11_112123095_A->G 11 112123095 112123095 A G snp 4150.77 1/1 99 148 0 148 1.0 exonic rs2564872 PLET1 AU nonsynonymous SNV NM_001145024 exon3 c.T424C p.S142P 0.645767 0.7778 0.615418 0.7032 0.8081 0.05 T 0.0 P -1.006 T 1.0 D 0.995 D Pathogenic 11_112130987_G->C 11 112130987 112130987 G C snp 528.77 1/1 39 16 0 16 1.0 intronic rs2518361 PLET1 AU NM_001145024 exon4 c.11607-141G>C 0.727436 0.7808 Uncertain 11_112832276_-->G 11 112832276 112832276 - G indel 1720.73 0/1 99 217 119 98 0.45 ncRNA_intronic LOC101928847 AU 0.16893 0.1835 0.1572 0.1848 Uncertain 11_112832307_-->A 11 112832307 112832307 - A indel 7939.73 1/1 99 191 0 191 1.0 ncRNA_intronic rs11381910 LOC101928847 AU 0.9998 0.999 0.999388 0.9997 0.9998 Uncertain 11_112832340_C->- 11 112832340 112832340 C - indel 6144.73 1/1 99 149 0 149 1.0 splicing rs11284059 NCAM1 AU NM_001242608 exon2 c.7delC 1 1 1.0000 1 Pathogenic 11_112832353_T->C 11 112832353 112832353 T C snp 4183.77 1/1 99 125 2 123 0.98 exonic NCAM1 AU nonsynonymous SNV NM_000615 exon2 c.T19C p.F7L 1 1 1.0000 1 Pathogenic 11_112832358_T->C 11 112832358 112832358 T C snp 4004.77 1/1 99 116 0 116 1.0 exonic NCAM1 AU synonymous SNV NM_000615 exon2 c.T24C p.I8I 1 1 1.0000 1 Uncertain 11_112832528_G->A 11 112832528 112832528 G A snp 68.77 0/1 30 4 1 3 0.75 ncRNA_intronic LOC101928847 AU 0.183107 0.2153 Uncertain 11_112952272_-->T 11 112952272 112952272 - T indel 653.73 1/1 47 37 1 36 0.97 intronic NCAM1 AU NM_001242608 exon2 c.53+119886insT 0.315096 0.6478 Uncertain 11_112983809_G->A 11 112983809 112983809 G A snp 615.77 1/1 45 21 0 21 1.0 intronic NCAM1 AU NM_001242608 exon3 c.240767-89291G>A 0.170527 0.373 Uncertain 11_112984037_G->A 11 112984037 112984037 G A snp 808.77 1/1 60 28 0 28 1.0 intronic NCAM1 AU NM_001242608 exon3 c.240767-89063G>A 0.836062 0.8403 Uncertain 11_112984100_C->A 11 112984100 112984100 C A snp 56.74 1/1 6 2 0 2 1.0 intronic NCAM1 AU NM_001242608 exon3 c.240767-89000C>A 1 1 Uncertain 11_113067854_T->C 11 113067854 113067854 T C snp 312.78 1/1 24 10 0 10 1.0 intronic NCAM1 AU NM_001242608 exon3 c.240767-5246T>C 0.473043 0.4901 Uncertain 11_113073066_-->TTTTG 11 113073066 113073066 - TTTTG indel 2607.73 ./1 99 37 1 36 0.97 intronic NCAM1 AU NM_001242608 exon3 c.240767-34insTTTTG 0.249441 0.1838 0.1556 Uncertain 11_113073066_-->TTTTGTTTTG 11 113073066 113073066 - TTTTGTTTTG indel 2607.73 ./1 99 37 1 36 0.97 intronic NCAM1 AU NM_001242608 exon3 c.240767-34insTTTTGTTTTG 0.159532 0.1319 0.1852 Uncertain 11_113076982_G->C 11 113076982 113076982 G C snp 616.77 1/1 45 22 0 22 1.0 intronic NCAM1 AU NM_001242608 exon6 c.244569+80G>C 0.404153 0.4167 Uncertain 11_113085244_C->G 11 113085244 113085244 C G snp 2959.77 1/1 99 101 0 101 1.0 intronic NCAM1 AU NM_001242608 exon9 c.252900+11C>G 0.463059 0.4901 0.398893 0.4159 0.5438 Uncertain 11_113103996_T->G 11 113103996 113103996 T G snp 1709.77 1/1 99 66 0 66 1.0 exonic NCAM1 AU synonymous SNV NM_000615 exon13 c.T1620G p.V540V 0.667931 0.7312 0.639528 0.5610 0.7323 Uncertain 11_113111501_T->C 11 113111501 113111501 T C snp 2232.77 0/1 99 226 127 99 0.44 intronic NCAM1 AU NM_001076682 exon16 c.279174-6T>C 0.413938 0.5645 0.336942 0.4271 0.5657 Uncertain 11_113113515_G->A 11 113113515 113113515 G A snp 2294.77 0/1 99 191 87 104 0.54 intronic NCAM1 AU NM_001076682 exon17 c.281193-11G>A 0.820487 0.8383 0.812086 0.8376 0.8323 Uncertain 11_113195204_G->A 11 113195204 113195204 G A snp 152.77 0/1 99 10 5 5 0.5 intronic TTC12 AU NM_017868 exon5 c.8347-122G>A 0.00179712 0.0089 Uncertain 11_113200558_A->G 11 113200558 113200558 A G snp 1183.77 0/1 99 86 42 44 0.51 intronic TTC12 AU NM_017868 exon7 c.13662-83A>G 0.279553 0.4762 Uncertain 11_113200709_G->A 11 113200709 113200709 G A snp 1444.77 0/1 99 115 58 57 0.5 intronic TTC12 AU NM_017868 exon7 c.13722+8G>A 0.608826 0.5347 0.650762 0.6131 0.5267 Uncertain 11_113211329_G->T 11 113211329 113211329 G T snp 952.77 0/1 99 76 39 37 0.49 intronic TTC12 AU NM_017868 exon11 c.24406-56G>T 0.338858 0.4812 0.220105 Uncertain 11_113212553_T->C 11 113212553 113212553 T C snp 2999.77 0/1 99 237 100 137 0.58 splicing TTC12 AU NM_017868 exon12 c.25579-5T>C 0.286941 0.4752 0.188241 0.2028 0.4759 Pathogenic 11_113230600_C->T 11 113230600 113230600 C T snp 563.77 0/1 99 47 21 26 0.55 intronic TTC12 AU NM_017868 exon18 c.43682-61C>T 0.28135 0.4692 0.183092 Uncertain 11_113233059_G->A 11 113233059 113233059 G A snp 1122.77 0/1 99 110 60 50 0.45 intronic TTC12 AU NM_017868 exon19 c.46143-63G>A 0.593051 0.5268 Uncertain 11_113234466_G->A 11 113234466 113234466 G A snp 264.77 0/1 99 14 6 8 0.57 intronic rs713233 TTC12 AU NM_017868 exon20 c.47570-83G>A 0.328874 0.4772 Uncertain 11_113234471_A->G 11 113234471 113234471 A G snp 251.77 0/1 99 16 8 8 0.5 intronic rs719803 TTC12 AU NM_017868 exon20 c.47570-78A>G 0.281949 0.4722 Uncertain 11_113234679_T->C 11 113234679 113234679 T C snp 2126.77 0/1 99 185 87 98 0.53 intronic rs719802 TTC12 AU NM_017868 exon20 c.47670+30T>C 0.493411 0.5109 0.548407 0.5744 0.5310 Uncertain 11_113235419_A->G 11 113235419 113235419 A G snp 464.77 0/1 99 20 6 14 0.7 intronic rs2298489 TTC12 AU NM_017868 exon21 c.48577-137A>G 0.567093 0.5486 Uncertain 11_113235864_A->G 11 113235864 113235864 A G snp 479.77 0/1 99 24 10 14 0.58 intronic rs7949242 TTC12 AU NM_017868 exon21 c.48803+82A>G 0.328275 0.494 Uncertain 11_113264272_T->C 11 113264272 113264272 T C snp 2140.77 0/1 99 165 77 88 0.53 exonic rs17115439 ANKK1 AU synonymous SNV NM_178510 exon2 c.T255C p.S85S 0.525958 0.5536 0.600633 0.6098 0.5621 Uncertain 11_113264470_A->C 11 113264470 113264470 A C snp 807.77 0/1 99 74 40 34 0.46 exonic rs4938013 ANKK1 AU synonymous SNV NM_178510 exon2 c.A453C p.I151I 0.660543 0.5546 0.715799 0.6478 0.5625 Uncertain 11_113264521_G->A 11 113264521 113264521 G A snp 280.77 0/1 99 35 20 15 0.43 intronic rs4938014 ANKK1 AU NM_178510 exon2 c.5891+24G>A 0.28754 0.4841 0.181105 0.2040 0.5030 Uncertain 11_113265292_T->C 11 113265292 113265292 T C snp 385.77 0/1 99 16 4 12 0.75 intronic rs10891546 ANKK1 AU NM_178510 exon3 c.7044-358T>C 0.526757 0.5536 Uncertain 11_113265999_G->A 11 113265999 113265999 G A snp 2712.77 0/1 99 250 132 118 0.47 intronic rs11214597 ANKK1 AU NM_178510 exon4 c.7474-81G>A 0.0982428 0.376 Uncertain 11_113266679_C->T 11 113266679 113266679 C T snp 400.77 0/1 99 33 18 15 0.45 intronic rs34863235 ANKK1 AU NM_178510 exon5 c.8182-109C>T 0.215056 0.4038 Uncertain 11_113266702_T->C 11 113266702 113266702 T C snp 574.77 0/1 99 52 29 23 0.44 intronic rs11214598 ANKK1 AU NM_178510 exon5 c.8182-86T>C 0.442692 0.4663 Uncertain 11_113266821_G->A 11 113266821 113266821 G A snp 1446.77 0/1 99 142 79 63 0.44 exonic rs7118900 ANKK1 AU nonsynonymous SNV NM_178510 exon5 c.G715A p.A239T 0.320487 0.4058 0.223047 0.2460 0.4029 0.13 T 0.003 P -1.024 T 0.152 T 0.246 T Pathogenic 11_113270015_G->C 11 113270015 113270015 G C snp 2964.77 0/1 99 249 129 120 0.48 exonic rs4938016 ANKK1 AU nonsynonymous SNV NM_178510 exon8 c.G1324C p.G442R 0.549321 0.4663 0.624804 0.6625 0.5025 0.66 T 0.0 P -1.003 T 0.0 T 0.0 T Pathogenic 11_113270369_G->A 11 113270369 113270369 G A snp 2299.77 0/1 99 168 78 90 0.54 exonic rs147474296 ANKK1 AU nonsynonymous SNV NM_178510 exon8 c.G1678A p.G560S 0.00179712 0.0069 0.000158 0.0007 0.0089 0.2 T 0.999 N -1.022 T 0.081 T 0.088 T Pathogenic 11_113270374_C->T 11 113270374 113270374 C T snp 4801.77 1/1 99 170 0 170 1.0 exonic rs2734848 ANKK1 AU synonymous SNV NM_178510 exon8 c.C1683T p.Y561Y 0.769369 0.9514 0.756086 0.8205 0.9598 Uncertain 11_113270828_G->A 11 113270828 113270828 G A snp 1799.77 0/1 99 171 97 74 0.43 exonic rs1800497 ANKK1 AU nonsynonymous SNV NM_178510 exon8 c.G2137A p.E713K 0.325679 0.4058 0.235393 0.2759 0.4270 0.94 T 0.0 P -0.988 T 0.0 T 0.0 T CLINSIG=pathogenic;CLNDBN=Dopamine_receptor_d2\x2c_reduced_brain_density_of;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000002186.2;CLNDSDB=MedGen;CLNDSDBID=C1837439 ID=CM041241;DIS=Reduced DRD2 receptor density;TAG=DFP;PUB=15146457 DFP Pathogenic 11_113271065_T->G 11 113271065 113271065 T G snp 390.77 1/1 30 11 0 11 1.0 UTR3 rs2734847 ANKK1 AU 0.857428 0.9524 Uncertain 11_113281397_C->T 11 113281397 113281397 C T snp 342.77 0/1 79 15 4 11 0.73 UTR3 rs6276 DRD2 AU 0.466853 0.4673 0.556449 Uncertain 11_113281776_A->C 11 113281776 113281776 A C snp 156.77 0/1 99 8 3 5 0.63 intronic rs2734841 DRD2 AU NM_000795 exon1 c.194+134A>C 0.546925 0.4683 Uncertain 11_113283477_A->G 11 113283477 113283477 A G snp 684.77 0/1 99 58 29 29 0.5 exonic rs6275 DRD2 AU synonymous SNV NM_000795 exon7 c.T939C p.H313H 0.526558 0.4712 0.596275 0.6411 0.4619 Uncertain 11_113285299_G->A 11 113285299 113285299 G A snp 540.77 0/1 99 32 14 18 0.56 intronic rs2511521 DRD2 AU NM_000795 exon3 c.3735+116G>A 0.503195 0.4792 Uncertain 11_113561025_G->A 11 113561025 113561025 G A snp 3063.77 1/1 99 119 0 119 1.0 exonic rs11214703 TMPRSS5 AU synonymous SNV NM_030770 exon11 c.C1134T p.C378C 0.114217 0.3383 0.020167 0.1085 0.4652 Uncertain 11_113561054_A->G 11 113561054 113561054 A G snp 3588.77 1/1 99 153 1 152 0.99 exonic rs7110736 TMPRSS5 AU nonsynonymous SNV NM_030770 exon11 c.T1105C p.F369L 0.770168 0.748 0.736150 0.6959 0.7253 0.31 T 0.002 P -0.964 T 0.0 T 0.001 T Pathogenic 11_113561057_A->G 11 113561057 113561057 A G snp 3762.77 1/1 99 156 2 154 0.99 exonic rs7110738 TMPRSS5 AU synonymous SNV NM_030770 exon11 c.T1102C p.L368L 0.770168 0.748 0.734798 0.6961 0.7256 Uncertain 11_113561421_A->C 11 113561421 113561421 A C snp 96.28 1/1 9 3 0 3 1.0 intronic rs7114195 TMPRSS5 AU NM_030770 exon4 c.2581-141A>C 0.769369 0.748 Uncertain 11_113566207_C->A 11 113566207 113566207 C A snp 4784.77 1/1 99 178 0 178 1.0 intronic rs4936279 TMPRSS5 AU NM_030770 exon7 c.7184+42C>A 0.514377 0.4861 0.431695 0.3820 0.4768 Uncertain 11_113570405_T->C 11 113570405 113570405 T C snp 3233.06 1/1 99 108 0 108 1.0 exonic rs4936280 TMPRSS5 AU synonymous SNV NM_030770 exon3 c.A117G p.A39A 0.770767 0.749 0.742133 0.7316 0.7717 Uncertain 11_113570490_T->C 11 113570490 113570490 T C snp 799.77 1/1 60 23 0 23 1.0 intronic rs3802856 TMPRSS5 AU NM_030770 exon11 c.11434+75T>C 0.770767 0.749 Uncertain 11_113570617_C->A 11 113570617 113570617 C A snp 681.77 0/1 99 47 19 28 0.6 intronic rs3802855 TMPRSS5 AU NM_001288751 exon12 c.11702-66C>A 0.0177716 0.0853 Uncertain 11_113576932_A->G 11 113576932 113576932 A G snp 2119.77 1/1 99 83 0 83 1.0 intronic rs7926267 TMPRSS5 AU NM_030770 exon13 c.17962-11A>G 0.769169 0.746 0.737897 0.6880 0.7160 Uncertain 11_113608165_A->- 11 113608165 113608165 A - indel 201.74 1/1 27 9 0 9 1.0 intronic rs3835162 ZW10 AU NM_004724 exon3 c.3878-128delA 0.367812 0.4702 Uncertain 11_113609854_T->A 11 113609854 113609854 T A snp 1121.77 1/1 81 37 0 37 1.0 intronic rs4351850 ZW10 AU NM_004724 exon5 c.5519-80T>A 0.770367 0.75 Uncertain 11_113618470_T->A 11 113618470 113618470 T A snp 481.77 1/1 36 16 0 16 1.0 intronic rs2459977 ZW10 AU NM_004724 exon8 c.14020+35T>A 0.874601 0.9573 0.887568 0.9239 0.9574 Uncertain 11_113618968_G->C 11 113618968 113618968 G C snp 2988.77 1/1 99 105 0 105 1.0 intronic rs2513584 ZW10 AU NM_004724 exon9 c.14563-10G>C 0.994609 1 0.991612 0.9978 1 Uncertain 11_113631414_A->- 11 113631414 113631414 A - indel 323.73 1/1 42 19 0 19 1.0 intronic rs60170555 ZW10 AU NM_004724 exon13 c.26897+102delA 0.163139 0.3413 Uncertain 11_113651400_T->G 11 113651400 113651400 T G snp 50.74 1/1 6 2 0 2 1.0 downstream rs7129831 CLDN25 AU 0.278554 0.4355 Uncertain 11_113670052_T->A 11 113670052 113670052 T A snp 4302.77 1/1 99 159 0 159 1.0 exonic rs2459971 USP28 AU synonymous SNV NM_001301029 exon22 c.A2673T p.T891T 0.970248 1 0.965676 0.9903 1 Uncertain 11_113678924_G->T 11 113678924 113678924 G T snp 1167.77 1/1 84 41 0 41 1.0 intronic rs2513582 USP28 AU NM_001301029 exon7 c.9058-95G>T 0.976038 1 Uncertain 11_113679119_C->T 11 113679119 113679119 C T snp 3283.77 1/1 99 127 0 127 1.0 exonic rs2465647 USP28 AU synonymous SNV NM_001301029 exon16 c.G1830A p.S610S 0.790535 0.874 0.763737 0.8182 0.8935 1.000 P -1.066 T Likely benign 11_113680018_G->C 11 113680018 113680018 G C snp 1305.77 1/1 96 37 0 37 1.0 intronic rs2513581 USP28 AU NM_001301029 exon8 c.10015+42G>C 0.995807 1 0.992381 0.9980 1 Uncertain 11_113684747_C->A 11 113684747 113684747 C A snp 561.77 1/1 42 16 0 16 1.0 intronic rs3758989 USP28 AU NM_001301029 exon10 c.14716+70C>A 0.113419 0.3125 Uncertain 11_113711560_C->T 11 113711560 113711560 C T snp 242.77 0/1 99 30 20 10 0.33 intronic USP28 AU NM_001301029 exon20 c.41518+81C>T Uncertain 11_113802601_A->G 11 113802601 113802601 A G snp 6838.77 1/1 99 243 0 243 1.0 intronic rs1176746 HTR3B AU NM_006028 exon4 c.26934+12A>G 0.746605 0.7163 0.702555 0.6754 0.6985 Uncertain 11_113803104_G->A 11 113803104 113803104 G A snp 6244.77 1/1 99 232 3 229 0.99 exonic rs2276305 HTR3B AU synonymous SNV NM_006028 exon5 c.G462A p.A154A 0.121805 0.2946 0.040018 0.0686 0.3064 1.000 P -1.025 T Likely benign 11_113846006_T->C 11 113846006 113846006 T C snp 2305.77 1/1 99 79 0 79 1.0 UTR5 rs1062613 HTR3A AU 0.751797 0.8532 0.706711 0.7964 0.8724 ID=CR013839;DIS=Bipolar affective disorder, association with;TAG=DFP;PUB=11505217 DFP Uncertain 11_113846041_G->T 11 113846041 113846041 G T snp 1096.77 0/1 99 119 74 45 0.38 exonic rs190646973 HTR3A AU nonsynonymous SNV NM_000869 exon1 c.G12T p.K4N 0.00339457 0.0159 0.0018 0.0242 0.12 T 0.999 N -0.934 T 0.739 T 0.398 P Pathogenic 11_113848184_-->CT 11 113848184 113848184 - CT indel 3174.72 1/1 99 65 0 65 1.0 intronic rs4020460 HTR3A AU NM_000869 exon2 c.2463-308insCT 0.905751 1 Uncertain 11_113848273_A->T 11 113848273 113848273 A T snp 1562.77 0/1 99 166 96 70 0.42 intronic rs1985242 HTR3A AU NM_001161772 exon1 c.22-25A>T 0.554513 0.6468 0.577968 0.6442 0.6152 Uncertain 11_113850140_G->A 11 113850140 113850140 G A snp 248.8 1/1 21 7 0 7 1.0 intronic rs2276302 HTR3A AU NM_001161772 exon3 c.1723+141G>A 0.69988 0.8452 Uncertain 11_113856681_G->T 11 113856681 113856681 G T snp 679.77 0/1 99 56 29 27 0.48 intronic rs10160548 HTR3A AU NM_001161772 exon6 c.8460-55G>T 0.511382 0.6171 Uncertain 11_113860425_A->G 11 113860425 113860425 A G snp 2245.77 0/1 99 218 117 101 0.46 exonic rs1176713 HTR3A AU synonymous SNV NM_000869 exon9 c.A1395G p.L465L 0.276957 0.2907 0.238418 0.2566 0.2910 Uncertain 11_114057944_A->G 11 114057944 114057944 A G snp 128.77 0/1 99 21 16 5 0.24 intronic rs682155 ZBTB16 AU,AR NM_006006 exon4 c.123738+184A>G 0.636981 0.5962 Uncertain 11_114117829_G->A 11 114117829 114117829 G A snp 560.77 0/1 99 33 14 19 0.58 intronic ZBTB16 AU,AR NM_006006 exon6 c.183897-90G>A Uncertain 11_114167476_T->C 11 114167476 114167476 T C snp 323.77 0/1 99 28 16 12 0.43 intronic rs3819100 NNMT AU NM_006169 exon1 c.154+44T>C 0.294529 0.4653 0.237879 0.3031 0.4716 Uncertain 11_114183309_A->G 11 114183309 114183309 A G snp 77.77 0/1 99 7 4 3 0.43 downstream rs4646337 NNMT AU 0.211462 0.1468 Uncertain 11_114270604_C->A 11 114270604 114270604 C A snp 821.77 0/1 99 56 23 33 0.59 UTR3 rs3741302 C11orf71 AU 0.395567 0.4137 Uncertain 11_114276552_-->A 11 114276552 114276552 - A indel 325.73 0/1 99 52 32 20 0.38 intronic rs397731068 RBM7 AU NM_001286048 exon2 c.78+31insA 0.267971 0.3988 0.247125 0.2738 0.4253 Uncertain 11_114284645_C->A 11 114284645 114284645 C A snp 330.77 0/1 99 38 22 16 0.42 intergenic rs3897612 RBM7 AU 0.403554 0.4246 0.4961 0.4462 Uncertain 11_114284646_A->G 11 114284646 114284646 A G snp 318.77 0/1 99 39 23 16 0.41 intergenic rs3897611 RBM7 AU 0.403554 0.4246 0.4956 0.4462 Uncertain 11_114310469_T->C 11 114310469 114310469 T C snp 383.77 0/1 99 30 10 20 0.67 intronic rs476200 REXO2 AU NM_015523 exon1 c.147+72T>C 0.605032 0.6597 Uncertain 11_114314972_C->T 11 114314972 114314972 C T snp 2582.77 0/1 99 180 82 98 0.54 intronic rs2271716 REXO2 AU NM_015523 exon4 c.5012-290C>T 0.28115 0.4236 0.2515 0.4880 Uncertain 11_114315188_A->G 11 114315188 114315188 A G snp 1272.77 0/1 99 92 44 48 0.52 intronic rs540712 REXO2 AU NM_015523 exon4 c.5012-74A>G 0.652356 0.6597 0.5715 0.6951 Uncertain 11_114316989_C->A 11 114316989 114316989 C A snp 86.77 0/1 33 5 2 3 0.6 intronic rs654531 REXO2 AU NM_015523 exon5 c.6559+180C>A 0.641174 0.6567 Uncertain 11_114393652_C->T 11 114393652 114393652 C T snp 2314.77 0/1 99 250 147 103 0.41 exonic rs10891692 NXPE1 AU nonsynonymous SNV NM_152315 exon5 c.G631A p.G211R 0.372204 0.6687 0.319917 0.3598 0.6728 0 D 0.997 P -0.857 T 1.0 D 1.0 D Pathogenic 11_114398627_-->A 11 114398627 114398627 - A indel 600.73 0/1 99 92 54 38 0.41 splicing rs34542949 NXPE1 AU NM_152315 exon3 c.5934+4insA 0.384784 0.6181 0.3638 0.6406 Pathogenic 11_114401577_T->C 11 114401577 114401577 T C snp 3236.77 0/1 99 250 121 129 0.52 UTR5 rs524911 NXPE1 AU 0.404952 0.6687 0.3702 0.6740 Uncertain 11_114421635_A->G 11 114421635 114421635 A G snp 102.77 0/1 99 12 8 4 0.33 intronic rs79147234 NXPE1 AU NM_152315 exon5 c.30884-1938A>G Uncertain 11_114421646_A->G 11 114421646 114421646 A G snp 237.77 0/1 99 18 10 8 0.44 intronic rs79339030 NXPE1 AU NM_152315 exon5 c.30884-1927A>G Uncertain 11_114421674_G->A 11 114421674 114421674 G A snp 508.77 0/1 99 48 31 17 0.35 intronic rs75026329 NXPE1 AU NM_152315 exon5 c.30884-1899G>A Uncertain 11_114421683_G->A 11 114421683 114421683 G A snp 698.77 0/1 99 67 41 26 0.39 intronic rs79413019 NXPE1 AU NM_152315 exon5 c.30884-1890G>A Uncertain 11_114421698_A->G 11 114421698 114421698 A G snp 763.77 0/1 99 81 50 31 0.38 intronic rs75909356 NXPE1 AU NM_152315 exon5 c.30884-1875A>G Uncertain 11_114421705_A->G 11 114421705 114421705 A G snp 875.77 0/1 99 90 55 35 0.39 intronic rs78231204 NXPE1 AU NM_152315 exon5 c.30884-1868A>G Uncertain 11_114421711_C->T 11 114421711 114421711 C T snp 812.77 0/1 99 98 61 37 0.38 intronic rs77069178 NXPE1 AU NM_152315 exon5 c.30884-1862C>T Uncertain 11_114421714_T->- 11 114421714 114421714 T - indel 1344.73 0/1 99 99 62 37 0.37 intronic rs112529011 NXPE1 AU NM_152315 exon5 c.30884-1859delT Uncertain 11_114421721_G->A 11 114421721 114421721 G A snp 1231.77 0/1 99 119 67 52 0.44 intronic rs78612878 NXPE1 AU NM_152315 exon5 c.30884-1852G>A Uncertain 11_114421747_G->A 11 114421747 114421747 G A snp 1606.77 0/1 99 166 100 66 0.4 intronic rs78105386 NXPE1 AU NM_152315 exon5 c.30884-1826G>A Uncertain 11_114421754_G->A 11 114421754 114421754 G A snp 1777.77 0/1 99 185 109 76 0.41 intronic rs73016111 NXPE1 AU NM_152315 exon5 c.30884-1819G>A Uncertain 11_114421768_A->T 11 114421768 114421768 A T snp 2160.77 0/1 99 210 120 90 0.43 intronic rs75860289 NXPE1 AU NM_152315 exon5 c.30884-1805A>T Uncertain 11_114421769_C->G 11 114421769 114421769 C G snp 2280.77 0/1 99 211 123 88 0.42 intronic rs76481835 NXPE1 AU NM_152315 exon5 c.30884-1804C>G Uncertain 11_114421773_A->G 11 114421773 114421773 A G snp 2380.77 0/1 99 223 125 98 0.44 intronic rs74572030 NXPE1 AU NM_152315 exon5 c.30884-1800A>G Uncertain 11_114421789_-->C 11 114421789 114421789 - C indel 4132.73 0/1 99 249 131 118 0.47 intronic rs113431368 NXPE1 AU NM_152315 exon5 c.30884-1784insC 0.4309 0.4651 Uncertain 11_114421799_C->T 11 114421799 114421799 C T snp 3010.77 0/1 99 250 132 118 0.47 intronic rs79701489 NXPE1 AU NM_152315 exon5 c.30884-1774C>T 0.4414 0.4765 Uncertain 11_114421817_G->T 11 114421817 114421817 G T snp 3121.77 0/1 99 250 129 121 0.48 intronic rs73568242 NXPE1 AU NM_152315 exon5 c.30884-1756G>T 0.4909 0.4947 Uncertain 11_114421857_T->C 11 114421857 114421857 T C snp 3325.77 0/1 99 250 121 129 0.52 intronic rs78453693 NXPE1 AU NM_152315 exon5 c.30884-1716T>C 0.4974 0.4950 1 T 1 N -0.996 T 0.001 T 0.001 T Uncertain 11_114421861_G->A 11 114421861 114421861 G A snp 3495.77 0/1 99 250 116 134 0.54 intronic rs76118887 NXPE1 AU NM_152315 exon5 c.30884-1712G>A 0.4969 0.4951 Uncertain 11_114421895_G->A 11 114421895 114421895 G A snp 3573.77 0/1 99 250 113 137 0.55 intronic rs78257939 NXPE1 AU NM_152315 exon5 c.30884-1678G>A 0.4838 0.4896 0.22 T 1 N -1.043 T 0.008 T 0.003 T Uncertain 11_114421909_T->C 11 114421909 114421909 T C snp 3635.77 0/1 99 248 108 140 0.56 intronic rs79082937 NXPE1 AU NM_152315 exon5 c.30884-1664T>C 0.4633 0.4792 Uncertain 11_114421912_A->G 11 114421912 114421912 A G snp 3642.77 0/1 99 250 105 145 0.58 intronic rs78658939 NXPE1 AU NM_152315 exon5 c.30884-1661A>G 0.4650 0.4842 Uncertain 11_114421927_G->A 11 114421927 114421927 G A snp 3791.77 0/1 99 250 101 149 0.6 intronic rs78842965 NXPE1 AU NM_152315 exon5 c.30884-1646G>A 0.000199681 0.001 0.4723 0.4948 Uncertain 11_114421962_G->A 11 114421962 114421962 G A snp 3648.77 0/1 99 235 91 144 0.61 intronic rs75409523 NXPE1 AU NM_152315 exon5 c.30884-1611G>A 0.00159744 0.4887 0.5 Uncertain 11_114421967_A->G 11 114421967 114421967 A G snp 3511.77 0/1 99 235 91 144 0.61 intronic rs79109814 NXPE1 AU NM_152315 exon5 c.30884-1606A>G 0.4906 0.4946 Uncertain 11_114422003_A->C 11 114422003 114422003 A C snp 2686.77 0/1 99 162 60 102 0.63 intronic rs73568250 NXPE1 AU NM_152315 exon5 c.30884-1570A>C Uncertain 11_114422016_T->A 11 114422016 114422016 T A snp 2193.77 0/1 99 130 53 77 0.59 intronic rs76270589 NXPE1 AU NM_152315 exon5 c.30884-1557T>A Uncertain 11_114422025_C->A 11 114422025 114422025 C A snp 1894.77 0/1 99 104 41 63 0.61 intronic rs75158214 NXPE1 AU NM_152315 exon5 c.30884-1548C>A Uncertain 11_114422029_T->G 11 114422029 114422029 T G snp 1791.77 0/1 99 94 34 60 0.64 intronic rs78778953 NXPE1 AU NM_152315 exon5 c.30884-1544T>G Uncertain 11_114422036_C->T 11 114422036 114422036 C T snp 1616.77 0/1 99 77 24 53 0.69 intronic rs77481744 NXPE1 AU NM_152315 exon5 c.30884-1537C>T Uncertain 11_114422052_G->C 11 114422052 114422052 G C snp 1030.77 0/1 99 53 19 34 0.64 intronic rs10790022 NXPE1 AU NM_152315 exon5 c.30884-1521G>C 0.240615 Uncertain 11_114422068_C->T 11 114422068 114422068 C T snp 518.77 0/1 99 29 14 15 0.52 intronic rs76698432 NXPE1 AU NM_152315 exon5 c.30884-1505C>T Uncertain 11_114422070_A->C 11 114422070 114422070 A C snp 519.77 0/1 99 28 13 15 0.54 intronic rs75429280 NXPE1 AU NM_152315 exon5 c.30884-1503A>C Uncertain 11_114422088_C->T 11 114422088 114422088 C T snp 217.77 0/1 99 13 6 7 0.54 intronic rs79172381 NXPE1 AU NM_152315 exon5 c.30884-1485C>T Uncertain 11_114422112_A->G 11 114422112 114422112 A G snp 44.74 1/1 6 2 0 2 1.0 intronic rs77120976 NXPE1 AU NM_152315 exon5 c.30884-1461A>G Uncertain 11_114441943_G->A 11 114441943 114441943 G A snp 2185.77 0/1 99 195 95 100 0.51 exonic rs10891705 NXPE4 AU nonsynonymous SNV NM_001077639 exon6 c.C1352T p.A451V 0.360024 0.6746 0.307564 0.3567 0.6784 0.56 T 0.023 P -0.996 T 0.175 T 0.246 T Pathogenic 11_114442103_A->G 11 114442103 114442103 A G snp 1600.77 0/1 99 125 59 66 0.53 exonic rs550897 NXPE4 AU nonsynonymous SNV NM_001077639 exon6 c.T1192C p.Y398H 0.653954 0.6746 0.598310 0.5404 0.6831 1 T 0.0 P -0.977 T 0.0 T 0.0 T Pathogenic 11_114442265_G->A 11 114442265 114442265 G A snp 603.77 0/1 99 36 14 22 0.61 intronic rs481080 NXPE4 AU NM_001077639 exon1 c.536+70G>A 0.653754 0.6746 Uncertain 11_114451129_T->C 11 114451129 114451129 T C snp 96.28 1/1 9 3 0 3 1.0 intronic rs640796 NXPE4 AU NM_001077639 exon2 c.9401+69T>C 0.54353 0.7917 Uncertain 11_114452935_G->T 11 114452935 114452935 G T snp 140.77 0/1 99 14 9 5 0.36 intronic rs149336636 NXPE4 AU NM_001077639 exon4 c.11350-74G>T 0.000399361 0.002 Uncertain 11_114550334_A->G 11 114550334 114550334 A G snp 967.77 1/1 72 27 0 27 1.0 intronic rs1612325 NXPE2 AU NM_182495 exon2 c.1081-44A>G 0.859225 0.9167 0.8855 0.9194 Uncertain 11_114569054_A->G 11 114569054 114569054 A G snp 5365.77 1/1 99 196 1 195 0.99 exonic rs1712838 NXPE2 AU synonymous SNV NM_182495 exon3 c.A420G p.G140G 0.76258 0.8224 0.762155 0.7932 0.8373 Uncertain 11_114577577_T->A 11 114577577 114577577 T A snp 2783.77 0/1 99 246 133 113 0.46 exonic NXPE2 AU stopgain NM_182495 exon6 c.T1605A p.Y535X 1 T 1.000 N Pathogenic 11_115061533_T->C 11 115061533 115061533 T C snp 1267.77 0/1 99 123 69 54 0.44 intronic rs4936322 CADM1 AU NM_001301043 exon3 c.14414-74T>C 0.476837 0.506 Uncertain 11_115068975_T->A 11 115068975 115068975 T A snp 982.77 1/1 72 33 0 33 1.0 intronic rs45622340 CADM1 AU NM_001301044 exon3 c.21932-150T>A 0.339856 0.621 Uncertain 11_115316397_A->T 11 115316397 115316397 A T snp 76.28 1/1 9 4 0 4 1.0 intronic rs183393 CADM1 AU NM_014333 exon10 c.327795-58591A>T 1 1 Uncertain 11_116629734_-->A 11 116629734 116629734 - A indel 321.73 0/1 99 39 16 23 0.59 intronic rs56024416 BUD13 AU NM_001159736 exon5 c.10592-55insA Uncertain 11_116631391_T->C 11 116631391 116631391 T C snp 376.77 0/1 99 39 22 17 0.44 intronic rs3741301 BUD13 AU NM_001159736 exon6 c.12253-59T>C 0.257987 0.3304 0.3579 0.2788 Uncertain 11_116631690_G->A 11 116631690 116631690 G A snp 299.77 0/1 99 32 19 13 0.41 intronic rs3741300 BUD13 AU NM_001159736 exon6 c.12471+22G>A 0.277955 0.379 0.361859 0.3626 0.3507 Uncertain 11_116631707_T->C 11 116631707 116631707 T C snp 212.77 0/1 99 26 16 10 0.38 intronic rs3825041 BUD13 AU NM_001159736 exon6 c.12471+39T>C 0.877196 0.7639 0.946129 0.8955 0.7906 Uncertain 11_116640768_G->A 11 116640768 116640768 G A snp 366.77 0/1 99 25 7 18 0.72 intronic rs1269325 BUD13 AU NM_001159736 exon9 c.21647-76G>A 0.435304 0.4127 Uncertain 11_116641028_C->T 11 116641028 116641028 C T snp 266.77 0/1 99 12 4 8 0.67 intronic rs1263151 BUD13 AU NM_001159736 exon9 c.21741+90C>T 0.427716 0.4117 Uncertain 11_116643436_G->T 11 116643436 116643436 G T snp 153.77 0/1 99 9 4 5 0.56 intronic rs656417 BUD13 AU NM_001159736 exon10 c.24340-101G>T 0.455671 0.5367 Uncertain 11_116654435_C->T 11 116654435 116654435 C T snp 1031.77 0/1 99 105 57 48 0.46 intronic rs603446 ZPR1 AU NM_003904 exon5 c.4695+100C>T 0.265176 0.3284 Uncertain 11_116661826_T->C 11 116661826 116661826 T C snp 2739.77 0/1 99 239 128 111 0.46 intronic rs2072560 APOA5 AD NM_001166598 exon1 c.940+43T>C 0.881589 0.7619 0.956340 0.9007 0.8009 Uncertain 11_116662579_C->T 11 116662579 116662579 C T snp 613.77 0/1 99 64 37 27 0.42 UTR5 rs651821 APOA5 AD 0.824481 0.7123 0.905495 0.8799 0.7203 ID=CR080753;DIS=Increased plasma triglyceride levels;TAG=FP;PUB=12417524 FP Uncertain 11_116692334_C->T 11 116692334 116692334 C T snp 6356.77 1/1 99 205 0 205 1.0 exonic rs5104 APOA4 AU nonsynonymous SNV NM_000482 exon3 c.G440A p.S147N 0.759185 0.6379 0.873711 0.8089 0.6759 0.87 T 0.0 P -1.020 T ID=CM099363;DIS=Reduced APOA1 plasma concentration during postprandial lipid metabolism;TAG=FP;PUB=19592705 FP Pathogenic 11_116692449_G->A 11 116692449 116692449 G A snp 2785.77 0/1 99 250 128 122 0.49 exonic rs6413456 APOA4 AU synonymous SNV NM_000482 exon3 c.C325T p.L109L 0.00898562 0.0397 0.000385 0.0044 0.0439 Uncertain 11_116692694_G->A 11 116692694 116692694 G A snp 1510.77 1/1 99 46 0 46 1.0 intronic rs5100 APOA4 AU NM_000482 exon1 c.1015+97G>A 0.588658 0.5804 Uncertain 11_116693353_C->T 11 116693353 116693353 C T snp 1736.77 0/1 99 185 106 79 0.43 intronic rs2239013 APOA4 AU NM_000482 exon2 c.1792-21C>T 0.063099 0.0437 0.056257 0.0621 0.0473 Uncertain 11_116693464_C->T 11 116693464 116693464 C T snp 4427.77 1/1 99 156 1 155 0.99 exonic rs5092 APOA4 AU synonymous SNV NM_000482 exon2 c.G87A p.T29T 0.719848 0.5823 0.838541 0.7738 0.6233 Uncertain 11_116701122_C->G 11 116701122 116701122 C G snp 50.74 1/1 6 2 0 2 1.0 intronic rs2070669 APOC3 AU 0.449481 0.5258 Uncertain 11_116701535_T->C 11 116701535 116701535 T C snp 1632.77 0/1 99 139 67 72 0.52 exonic rs4520 APOC3 AU synonymous SNV NM_000040 exon3 c.T102C p.G34G 0.597045 0.3958 0.740650 0.6542 0.3968 ID=CM942309;DIS=Low triglyceride levels;TAG=FP;PUB=7889654 FP Uncertain 11_116701674_T->A 11 116701674 116701674 T A snp 156.77 0/1 99 9 3 6 0.67 intronic rs2070666 APOC3 AU NM_000040 exon3 c.314+62T>A 0.15615 0.2639 Uncertain 11_116703640_G->C 11 116703640 116703640 G C snp 1258.77 1/1 90 44 0 44 1.0 UTR3 rs5128 APOC3 AU 0.765775 0.6627 0.885409 0.8389 0.6939 ID=CR041556;DIS=High triglyceride levels, association with;TAG=DP;PUB=15100713 DP Uncertain 11_116707583_A->G 11 116707583 116707583 A G snp 303.78 1/1 24 8 0 8 1.0 ncRNA_intronic rs5072 APOA1-AS AU 0.78135 0.6478 Uncertain 11_116707684_A->G 11 116707684 116707684 A G snp 2703.77 1/1 99 91 0 91 1.0 ncRNA_intronic rs2070665 APOA1-AS AU 0.78135 0.6478 0.914717 0.8505 0.6849 Uncertain 11_116718415_G->A 11 116718415 116718415 G A snp 684.77 0/1 99 46 17 29 0.63 ncRNA_intronic rs61905145 APOA1-AS AU 0.122604 0.0437 Uncertain 11_116718521_G->C 11 116718521 116718521 G C snp 116.77 0/1 58 6 2 4 0.67 ncRNA_intronic rs1145206 APOA1-AS AU 0.298522 0.122 Uncertain 11_116728630_G->C 11 116728630 116728630 G C snp 1533.77 0/1 99 147 83 64 0.44 exonic rs12225230 SIK3 AU nonsynonymous SNV NM_001281749 exon20 c.C3227G p.P1076R 0.170727 0.0972 0.160920 0.1870 0.0977 0 D 0.999 P -1.055 T 0.967 D 0.663 D Pathogenic 11_116732512_G->T 11 116732512 116732512 G T snp 1742.77 1/1 99 65 1 64 0.98 intronic rs2075292 SIK3 AU NM_001281749 exon8 c.15445-44G>T 0.746805 0.4742 0.893335 0.8129 0.4957 Uncertain 11_116744018_C->T 11 116744018 116744018 C T snp 303.77 0/1 91 12 3 9 0.75 intronic rs17120111 SIK3 AU NM_001281749 exon13 c.27085-178C>T 0.136781 0.0427 Uncertain 11_116744389_T->C 11 116744389 116744389 T C snp 1144.77 0/1 99 96 48 48 0.5 intronic rs11216169 SIK3 AU NM_001281749 exon13 c.27241+37T>C 0.0750799 0.0437 0.081961 0.1149 0.0555 Uncertain 11_116747282_C->G 11 116747282 116747282 C G snp 152.77 0/1 99 10 5 5 0.5 intronic rs17120119 SIK3 AU NM_001281749 exon17 c.29968+203C>G 0.0790735 0.0774 Uncertain 11_116766899_T->C 11 116766899 116766899 T C snp 127.77 0/1 99 32 24 8 0.25 intronic rs10892044 SIK3 AU NM_001281749 exon19 c.49857-69T>C 0.140974 0.0437 Uncertain 11_116824620_G->A 11 116824620 116824620 G A snp 1404.77 0/1 99 87 31 56 0.64 intronic rs2289890 SIK3 AU NM_001281749 exon22 c.107648-139G>A 0.0836661 0.0903 Uncertain 11_116824884_T->G 11 116824884 116824884 T G snp 2093.77 1/1 99 69 0 69 1.0 intronic rs511676 SIK3 AU NM_001281749 exon22 c.107712+61T>G 0.752796 0.4792 0.891590 Uncertain 11_116968798_G->A 11 116968798 116968798 G A snp 802.77 0/1 99 81 43 38 0.47 intronic rs7128071 SIK3 AU NM_001281749 exon24 c.251747-60G>A 0.15655 0.0665 Uncertain 11_117007336_C->T 11 117007336 117007336 C T snp 255.78 1/1 27 46 23 23 0.5 intergenic rs201362832 SIK3 AU Uncertain 11_117007359_A->G 11 117007359 117007359 A G snp 291.77 1/1 30 40 20 20 0.5 intergenic rs546161879 SIK3 AU 0.295927 0.1736 Uncertain 11_117007630_A->C 11 117007630 117007630 A C snp 169.84 1/1 18 14 0 14 1.0 intergenic rs200354974 SIK3 AU Uncertain 11_117008345_-->T 11 117008345 117008345 - T indel 1017.73 0/1 37 30 3 27 0.9 intergenic rs3216785 SIK3 AU 0.0712859 0.1012 Uncertain 11_117008946_T->C 11 117008946 117008946 T C snp 212.84 1/1 18 6 0 6 1.0 intergenic rs504068 SIK3 AU 0.519369 0.4048 Uncertain 11_117015189_G->C 11 117015189 117015189 G C snp 254.77 0/1 99 28 16 12 0.43 intronic rs113560866 PAFAH1B2 AU 0.155152 0.0704 Uncertain 11_117015238_C->A 11 117015238 117015238 C A snp 308.78 1/1 24 12 0 12 1.0 intronic rs12419227 PAFAH1B2 AU 0.0680911 0.0823 Uncertain 11_117030581_T->A 11 117030581 117030581 T A snp 309.78 1/1 24 11 0 11 1.0 intronic rs1871757 PAFAH1B2 AU NM_001184747 exon3 c.7486-68T>A 0.613818 0.4554 Uncertain 11_117030625_T->- 11 117030625 117030625 T - indel 455.73 0/1 40 46 12 34 0.74 intronic rs35139041 PAFAH1B2 AU NM_001184747 exon3 c.7486-24delT 0.540335 0.373 0.6898 0.4248 Uncertain 11_117030633_T->C 11 117030633 117030633 T C snp 627.77 0/1 99 49 23 26 0.53 intronic rs200545029 PAFAH1B2 AU NM_001184747 exon3 c.7486-16T>C 0.0678914 0.0823 0.034631 0.0668 0.1048 Uncertain 11_117034389_AAAAAA->- 11 117034389 117034394 AAAAAA - indel 1107.73 0/1 99 27 10 17 0.63 intronic rs3057863 PAFAH1B2 AU NM_001184747 exon5 c.11322-96_11322-91delAAAAAA 0.51278 0.3919 Uncertain 11_117034619_G->T 11 117034619 117034619 G T snp 5625.77 1/1 99 193 0 193 1.0 intronic rs7122944 PAFAH1B2 AU NM_001184747 exon5 c.11445+11G>T 0.750399 0.494 0.888795 0.8134 0.5053 Uncertain 11_117034729_T->C 11 117034729 117034729 T C snp 885.77 0/1 99 63 32 31 0.49 intronic rs10790175 PAFAH1B2 AU NM_001184747 exon5 c.11445+121T>C 0.470447 0.373 Uncertain 11_117042377_G->A 11 117042377 117042377 G A snp 2272.77 1/1 99 87 0 87 1.0 exonic rs4936367 PAFAH1B2 AU nonsynonymous SNV NM_001184746 exon6 c.G451A p.V151M 0.750599 0.495 0.7270 0.4381 0.09 T 0.000 P -1.002 T 0.001 T 0.002 T Pathogenic 11_117052070_TCTCT->- 11 117052070 117052074 TCTCT - indel 8412.73 1/1 99 101 0 101 1.0 intronic rs35248926 SIDT2 AU NM_001040455 exon2 c.2152-61_2152-57delTCTCT 0.599042 0.4554 Uncertain 11_117053165_A->G 11 117053165 117053165 A G snp 887.77 0/1 99 54 21 33 0.61 intronic rs7946257 SIDT2 AU NM_001040455 exon5 c.3255-69A>G 0.485623 0.373 Uncertain 11_117053433_C->A 11 117053433 117053433 C A snp 2325.77 0/1 99 187 90 97 0.52 splicing rs2046150 SIDT2 AU NM_001040455 exon6 c.3459-5C>A 0.0980431 0.0823 0.086271 0.0765 0.1061 Pathogenic 11_117054370_-->T 11 117054370 117054370 - T indel 314.73 0/1 99 18 8 10 0.56 intronic rs34033077 SIDT2 AU NM_001040455 exon7 c.4515-124insT 0.121605 0.0823 Uncertain 11_117054709_C->G 11 117054709 117054709 C G snp 1486.77 0/1 99 113 50 63 0.56 intronic rs2046149 SIDT2 AU NM_001040455 exon8 c.4810-80C>G 0.141773 0.0823 Uncertain 11_117058062_C->T 11 117058062 117058062 C T snp 1637.77 0/1 99 142 72 70 0.49 intronic rs2306472 SIDT2 AU NM_001040455 exon11 c.8114-31C>T 0.141374 0.0823 0.122056 0.0871 0.1047 Uncertain 11_117059347_C->T 11 117059347 117059347 C T snp 2007.77 1/1 99 63 2 61 0.97 intronic rs90192 SIDT2 AU NM_001040455 exon13 c.9444-76C>T 0.664537 0.4583 Uncertain 11_117059552_G->A 11 117059552 117059552 G A snp 3139.77 0/1 99 244 118 126 0.52 intronic rs474339 SIDT2 AU NM_001040455 exon13 c.9563+10G>A 0.478235 0.373 0.644066 0.6377 0.3588 Uncertain 11_117059794_G->C 11 117059794 117059794 G C snp 744.77 0/1 99 30 7 23 0.77 intronic rs7933134 SIDT2 AU NM_001040455 exon14 c.9905-90G>C 0.138978 0.0823 Uncertain 11_117062489_T->C 11 117062489 117062489 T C snp 1566.77 0/1 99 120 62 58 0.48 intronic rs3213459 SIDT2 AU NM_001040455 exon19 c.12614-104T>C 0.141773 0.0823 Uncertain 11_117063709_C->G 11 117063709 117063709 C G snp 593.77 0/1 99 72 43 29 0.4 intronic rs2301174 SIDT2 AU NM_001040455 exon22 c.13603+127C>G 0.126398 0.0833 Uncertain 11_117064693_C->G 11 117064693 117064693 C G snp 1214.77 0/1 99 96 43 53 0.55 intronic rs521171 SIDT2 AU NM_001040455 exon24 c.14700+14C>G 0.48143 0.376 0.649146 0.6480 0.3674 Uncertain 11_117064776_C->G 11 117064776 117064776 C G snp 563.77 0/1 99 46 20 26 0.57 intronic rs11605883 SIDT2 AU NM_001040455 exon24 c.14700+97C>G 0.141573 0.0823 Uncertain 11_117066353_G->C 11 117066353 117066353 G C snp 34.77 0/1 63 5 3 2 0.4 ncRNA_exonic rs2269399 LOC100652768 AU 0.142173 0.0823 Uncertain 11_117074109_G->A 11 117074109 117074109 G A snp 2222.77 0/1 99 191 98 93 0.49 exonic rs12970 TAGLN AU synonymous SNV NM_001001522 exon3 c.G267A p.K89K 0.0742812 0.0823 0.053178 0.0704 0.1046 1 D -1.006 T Likely benign 11_117074299_T->C 11 117074299 117074299 T C snp 287.77 0/1 99 22 12 10 0.45 intronic rs2269397 TAGLN AU NM_001001522 exon3 c.471+99T>C 0.215256 0.0863 Uncertain 11_117076708_T->C 11 117076708 117076708 T C snp 150.77 0/1 60 30 12 18 0.6 UTR3 rs35186251 PCSK7 AU 0.509585 0.6349 0.3741 0.5656 Uncertain 11_117076875_G->A 11 117076875 117076875 G A snp 1185.77 0/1 99 193 135 58 0.3 exonic rs139944026 PCSK7 AU synonymous SNV NM_004716 exon17 c.C2196T p.D732D 0.044895 0.0688 0.1055 Uncertain 11_117077034_A->G 11 117077034 117077034 A G snp 2332.77 0/1 99 148 53 95 0.64 exonic rs28590104 PCSK7 AU synonymous SNV NM_004716 exon17 c.T2037C p.T679T 0.5623 0.6538 0.4193 0.6673 Uncertain 11_117077672_G->A 11 117077672 117077672 G A snp 82.77 0/1 99 72 54 18 0.25 intronic rs146765763 PCSK7 AU NM_004716 exon3 c.1070-110G>A 0.00259585 0.0069 Uncertain 11_117077695_C->T 11 117077695 117077695 C T snp 990.77 0/1 99 121 77 44 0.36 intronic rs201575381 PCSK7 AU NM_004716 exon3 c.1070-87C>T Uncertain 11_117089722_G->C 11 117089722 117089722 G C snp 479.77 0/1 99 29 11 18 0.62 intronic rs2239009 PCSK7 AU NM_004716 exon7 c.13060-50G>C 0.0686901 0.0833 0.049877 0.0687 0.1036 Uncertain 11_117090545_T->C 11 117090545 117090545 T C snp 3371.77 1/1 99 117 0 117 1.0 intronic rs3882895 PCSK7 AU NM_004716 exon8 c.13762+71T>C 0.279952 0.1528 Uncertain 11_117090558_C->T 11 117090558 117090558 C T snp 2882.77 1/1 99 98 0 98 1.0 intronic rs74830 PCSK7 AU NM_004716 exon8 c.13762+84C>T 0.66234 0.6815 Uncertain 11_117094591_A->G 11 117094591 117094591 A G snp 108.77 0/1 99 9 5 4 0.44 intronic rs17120523 PCSK7 AU NM_004716 exon10 c.18081-202A>G 0.0523163 0.0704 Uncertain 11_117095361_C->T 11 117095361 117095361 C T snp 2136.77 1/1 99 78 0 78 1.0 intronic rs236919 PCSK7 AU NM_004716 exon11 c.18704-55C>T 0.665136 0.6756 0.504818 Uncertain 11_117096652_G->A 11 117096652 117096652 G A snp 1717.77 1/1 99 63 0 63 1.0 exonic rs2277287 PCSK7 AU synonymous SNV NM_004716 exon6 c.C855T p.S285S 0.249401 0.1508 0.240188 0.2517 0.1806 Uncertain 11_117097952_C->T 11 117097952 117097952 C T snp 1268.77 0/1 99 141 78 63 0.45 exonic rs2306473 PCSK7 AU synonymous SNV NM_004716 exon5 c.G690A p.T230T 0.209465 0.0675 0.217562 0.1915 0.0737 Uncertain 11_117100029_G->A 11 117100029 117100029 G A snp 686.77 0/1 99 52 24 28 0.54 intronic rs4938362 PCSK7 AU NM_004716 exon15 c.23380-63G>A 0.180711 0.0685 Uncertain 11_117100257_C->T 11 117100257 117100257 C T snp 3445.77 0/1 99 250 113 137 0.55 exonic rs11542139 PCSK7 AU nonsynonymous SNV NM_004716 exon3 c.G304A p.A102T 0.0123802 0.0437 0.000462 0.0090 0.0555 0.55 T 0.955 D -1.036 T 0.0 T 0.0 T Pathogenic 11_117100594_A->G 11 117100594 117100594 A G snp 878.77 1/1 63 34 0 34 1.0 intronic rs500389 PCSK7 AU NM_004716 exon15 c.23860+22A>G 0.675719 0.6915 0.539678 0.5999 0.7383 Uncertain 11_117109270_G->T 11 117109270 117109270 G T snp 1659.77 1/1 99 51 0 51 1.0 intronic rs678837 RNF214 AU NM_207343 exon3 c.4328-46G>T 0.835463 0.9306 0.676775 0.7013 0.9462 Uncertain 11_117110740_C->T 11 117110740 117110740 C T snp 351.78 1/1 27 11 0 11 1.0 intronic rs650585 RNF214 AU NM_207343 exon4 c.5588+164C>T 0.66274 0.7778 Uncertain 11_117152540_G->T 11 117152540 117152540 G T snp 2413.77 1/1 99 79 0 79 1.0 intronic rs505045 RNF214 AU NM_207343 exon11 c.47621-69G>T 0.841653 0.9355 Uncertain 11_117160347_A->G 11 117160347 117160347 A G snp 3459.77 1/1 99 115 0 115 1.0 exonic rs539765 BACE1 AU nonsynonymous SNV NM_012104 exon9 c.T1441C p.C481R 1 1 0.999538 0.9997 1 0.4 T 0.980 P -0.959 T 0.0 T 0.0 T Pathogenic 11_117163765_C->A 11 117163765 117163765 C A snp 3131.77 1/1 99 113 0 113 1.0 splicing rs490460 BACE1 AU NM_138971 exon5 c.3488-4C>A 0.853035 0.9315 0.719486 0.7376 0.9453 Pathogenic 11_117163824_C->G 11 117163824 117163824 C G snp 2710.77 1/1 99 95 1 94 0.99 exonic rs638405 BACE1 AU synonymous SNV NM_012104 exon5 c.G786C p.V262V 0.553514 0.6498 0.437817 0.4821 0.6597 1.0 P -0.956 T ID=CM128627;DIS=Creutzfeldt-Jakob disease, sporadic, increased risk;TAG=DP;PUB=22952813 DP Likely benign 11_117186073_T->A 11 117186073 117186073 T A snp 264.8 1/1 21 7 0 7 1.0 intronic rs2445939 BACE1 AU NM_138971 exon9 c.25969-177T>A 0.733227 0.7034 Uncertain 11_117209268_C->T 11 117209268 117209268 C T snp 1217.77 0/1 99 97 49 48 0.49 intronic rs573801 CEP164 AR 0.217652 0.1171 0.240496 0.2231 0.1402 Uncertain 11_117222592_G->A 11 117222592 117222592 G A snp 959.77 0/1 99 96 46 50 0.52 exonic rs490262 CEP164 AR nonsynonymous SNV NM_014956 exon5 c.G281A p.S94N 0.210264 0.1151 0.225412 0.2091 0.1387 1 T 0.0 P -1.007 T 0.0 T 0.001 T Pathogenic 11_117225982_C->T 11 117225982 117225982 C T snp 537.77 0/1 99 58 35 23 0.4 intronic rs74761525 CEP164 AR NM_014956 exon5 c.13402+3278C>T 0.0914537 0.1766 0.0994 0.1895 0.94 T 0.0 P -0.978 T 0.001 T 0.0 T Uncertain 11_117226041_A->G 11 117226041 117226041 A G snp 749.77 0/1 99 63 32 31 0.49 intronic rs74688068 CEP164 AR NM_014956 exon5 c.13402+3337A>G 0.00399361 0.0169 0.0008 0.0341 0.01 T 1 D -0.986 T 0.0 T 0.0 T Uncertain 11_117227374_G->T 11 117227374 117227374 G T snp 886.77 0/1 99 87 49 38 0.44 intronic CEP164 AR NM_014956 exon5 c.13402+4670G>T Uncertain 11_117227519_T->C 11 117227519 117227519 T C snp 41.77 0/1 70 4 2 2 0.5 intronic rs564674 CEP164 AR NM_014956 exon5 c.13402+4815T>C 0.519169 0.4296 Uncertain 11_117232492_C->T 11 117232492 117232492 C T snp 854.77 0/1 99 52 21 31 0.6 intronic rs2305825 CEP164 AR NM_014956 exon6 c.23248-58C>T 0.210064 0.1161 Uncertain 11_117232954_A->G 11 117232954 117232954 A G snp 52.74 1/1 6 2 0 2 1.0 intronic rs7934067 CEP164 AR NM_014956 exon7 c.23817-165A>G 0.210463 0.1161 Uncertain 11_117241760_T->A 11 117241760 117241760 T A snp 459.77 0/1 99 49 24 25 0.51 intronic rs2305826 CEP164 AR NM_014956 exon9 c.32493-35T>A 0.521166 0.4345 0.568570 0.5285 0.3989 Uncertain 11_117251521_G->C 11 117251521 117251521 G C snp 56.74 1/1 6 2 0 2 1.0 intronic rs2061293 CEP164 AR NM_001271933 exon11 c.42128+91G>C 0.899361 0.8393 Uncertain 11_117252489_T->C 11 117252489 117252489 T C snp 1218.77 1/1 87 48 0 48 1.0 exonic rs897836 CEP164 AR synonymous SNV NM_014956 exon13 c.T1482C p.P494P 0.901358 0.8452 0.935927 0.9124 0.8548 Uncertain 11_117257876_G->T 11 117257876 117257876 G T snp 665.77 0/1 99 54 29 25 0.46 intronic rs2305829 CEP164 AR NM_014956 exon15 c.48616-42G>T 0.207069 0.3492 0.135062 0.1926 0.3800 Uncertain 11_117261488_C->G 11 117261488 117261488 C G snp 447.77 0/1 99 57 37 20 0.35 splicing rs897837 CEP164 AR NM_014956 exon16 c.52190-4C>G 0.11222 0.0992 0.121902 0.1630 0.1243 Pathogenic 11_117280516_A->C 11 117280516 117280516 A C snp 460.77 0/1 99 128 79 49 0.38 exonic rs756182128 CEP164 AR nonsynonymous SNV NM_014956 exon30 c.A3931C p.T1311P 0.0464 0.0095 0.22 T 1 N -1.047 T 0.531 P 0.189 P Pathogenic 11_117280725_C->- 11 117280725 117280725 C - indel 2958.73 0/1 99 153 65 88 0.58 intronic rs5795079 CEP164 AR NM_014956 exon30 c.71379+44delC 0.178914 0.3105 0.119737 0.1953 0.3618 Uncertain 11_117282800_G->T 11 117282800 117282800 G T snp 7775.77 1/1 99 250 3 247 0.99 exonic rs522885 CEP164 AR synonymous SNV NM_014956 exon33 c.G4299T p.S1433S 0.908347 0.8284 0.964599 0.9383 0.8438 Uncertain 11_117301818_C->T 11 117301818 117301818 C T snp 611.77 0/1 99 35 14 21 0.6 intronic rs4356265 DSCAML1 AU NM_020693 exon2 c.2706+69C>T 0.2502 0.4911 Uncertain 11_117306291_G->T 11 117306291 117306291 G T snp 919.77 1/1 69 26 0 26 1.0 intronic rs661789 DSCAML1 AU NM_020693 exon7 c.7316-68G>T 0.992612 0.9802 Uncertain 11_117308927_C->A 11 117308927 117308927 C A snp 116.77 0/1 99 8 4 4 0.5 intronic rs10892101 DSCAML1 AU NM_020693 exon9 c.9756+128C>A 0.534944 0.8135 Uncertain 11_117308936_G->T 11 117308936 117308936 G T snp 117.77 0/1 99 7 3 4 0.57 intronic rs10892102 DSCAML1 AU NM_020693 exon9 c.9756+137G>T 0.534944 0.8155 Uncertain 11_117309495_G->A 11 117309495 117309495 G A snp 591.77 0/1 99 40 19 21 0.53 intronic rs10892104 DSCAML1 AU NM_020693 exon10 c.10557-105G>A 0.526558 0.8016 Uncertain 11_117309989_C->T 11 117309989 117309989 C T snp 2402.77 0/1 99 209 99 110 0.53 exonic rs11216386 DSCAML1 AU synonymous SNV NM_020693 exon23 c.G4317A p.L1439L 0.252196 0.5565 0.127751 0.1676 0.5946 Uncertain 11_117310022_A->G 11 117310022 117310022 A G snp 2088.77 0/1 99 189 93 96 0.51 exonic rs11216387 DSCAML1 AU synonymous SNV NM_020693 exon23 c.T4284C p.T1428T 0.304113 0.5605 0.166077 0.2038 0.5995 Uncertain 11_117329415_G->A 11 117329415 117329415 G A snp 752.77 0/1 99 53 26 27 0.51 intronic rs520328 DSCAML1 AU NM_020693 exon15 c.30426-54G>A 0.121406 0.121 Uncertain 11_117332352_A->G 11 117332352 117332352 A G snp 1191.77 1/1 87 34 0 34 1.0 intronic rs588048 DSCAML1 AU NM_020693 exon16 c.33269+40A>G 0.98722 0.9603 0.999384 0.9930 0.9669 Uncertain 11_117335722_T->C 11 117335722 117335722 T C snp 1458.77 0/1 99 135 73 62 0.46 exonic rs538847 DSCAML1 AU synonymous SNV NM_020693 exon17 c.A3381G p.Q1127Q 0.735823 0.8958 0.615053 0.6144 0.9015 Uncertain 11_117335991_C->T 11 117335991 117335991 C T snp 243.77 0/1 99 25 16 9 0.36 intronic rs663191 DSCAML1 AU NM_020693 exon17 c.36855+93C>T 0.0513179 0.0734 Uncertain 11_117340499_-->G 11 117340499 117340499 - G indel 375.73 0/1 99 18 7 11 0.61 intronic rs3216151 DSCAML1 AU NM_020693 exon18 c.41582-126insG 0.0545128 0.0704 Uncertain 11_117351353_C->T 11 117351353 117351353 C T snp 330.77 0/1 99 21 11 10 0.48 intronic rs577166 DSCAML1 AU NM_020693 exon20 c.52243+67C>T 0.0609026 0.128 Uncertain 11_117352632_C->T 11 117352632 117352632 C T snp 1994.77 0/1 99 150 79 71 0.47 intronic DSCAML1 AU NM_020693 exon22 c.53634-45C>T Uncertain 11_117376111_A->C 11 117376111 117376111 A C snp 113.77 0/1 99 10 5 5 0.5 intronic rs11216430 DSCAML1 AU NM_020693 exon25 c.77125-57A>C 0.140375 0.0843 Uncertain 11_117376413_G->A 11 117376413 117376413 G A snp 1967.77 0/1 99 162 80 82 0.51 exonic rs34138305 DSCAML1 AU synonymous SNV NM_020693 exon9 c.C1998T p.P666P 0.0876597 0.0833 0.079729 0.0693 0.0877 Uncertain 11_117580254_T->C 11 117580254 117580254 T C snp 361.78 1/1 27 13 0 13 1.0 intronic rs2508559 DSCAML1 AU NM_020693 exon31 c.348462-67251T>C 0.864217 0.8542 Uncertain 11_117580356_C->T 11 117580356 117580356 C T snp 1217.77 1/1 90 47 0 47 1.0 intronic rs605500 DSCAML1 AU NM_020693 exon31 c.348462-67149C>T 0.979034 1 Uncertain 11_117580509_A->G 11 117580509 117580509 A G snp 568.77 1/1 42 18 0 18 1.0 intronic rs655086 DSCAML1 AU NM_020693 exon31 c.348462-66996A>G 0.864018 0.8542 Uncertain 11_117580585_A->G 11 117580585 117580585 A G snp 141.03 1/1 12 4 0 4 1.0 intronic rs604245 DSCAML1 AU NM_020693 exon31 c.348462-66920A>G 0.863618 0.8522 Uncertain 11_117693582_C->T 11 117693582 117693582 C T snp 254.77 0/1 99 17 8 9 0.53 intronic rs79521383 FXYD2 AD NM_021603 exon5 c.2046+150C>T 0.0790735 0.2212 Uncertain 11_117698483_A->G 11 117698483 117698483 A G snp 145.77 0/1 99 17 9 8 0.47 intronic rs11216567 FXYD6-FXYD2 AU NM_001204268 exon5 c.2046+5051A>G 0.14397 0.2073 Uncertain 11_117709028_G->A 11 117709028 117709028 G A snp 1483.77 1/1 99 55 0 55 1.0 intronic rs516655 FXYD6 AU 0.821885 0.9663 0.8669 0.9627 Uncertain 11_117711232_A->G 11 117711232 117711232 A G snp 1538.77 1/1 99 46 0 46 1.0 intronic rs496164 FXYD6 AU NM_022003 exon3 c.567+149A>G 0.395966 0.4137 Uncertain 11_117712887_G->A 11 117712887 117712887 G A snp 879.77 1/1 66 26 0 26 1.0 intronic rs473057 FXYD6 AU NM_022003 exon6 c.2227+144G>A 0.366414 0.2887 Uncertain 11_117773110_G->C 11 117773110 117773110 G C snp 713.77 1/1 54 21 0 21 1.0 intronic rs494457 TMPRSS13 AU NM_001206789 exon1 c.27+130G>C 0.948083 0.9435 Uncertain 11_117774146_C->G 11 117774146 117774146 C G snp 1716.77 0/1 99 138 63 75 0.54 UTR3 rs2186627 TMPRSS13 AU 0.248802 0.1875 0.2809 0.1833 Uncertain 11_117774291_A->C 11 117774291 117774291 A C snp 3298.77 0/1 99 250 116 134 0.54 intronic rs2845712 TMPRSS13 AU NM_001244995 exon2 c.218-78A>C 0.849241 0.8284 0.9177 0.8428 0.5 T 0.0 P -0.978 T Uncertain 11_117774394_A->G 11 117774394 117774394 A G snp 2868.77 0/1 99 249 133 116 0.47 exonic rs59590191 TMPRSS13 AU synonymous SNV NM_001206789 exon11 c.T1548C p.L516L 0.195687 0.1786 0.167588 0.1552 0.1729 Uncertain 11_117774560_G->C 11 117774560 117774560 G C snp 706.77 0/1 99 33 12 21 0.64 intronic rs3809041 TMPRSS13 AU NM_001244995 exon2 c.371+38G>C 0.192093 0.1806 0.156900 0.1513 0.1812 Uncertain 11_117774829_G->A 11 117774829 117774829 G A snp 1091.77 0/1 99 91 45 46 0.51 intronic rs3809040 TMPRSS13 AU NM_001244995 exon3 c.665+13G>A 0.190895 0.1796 0.156346 0.1456 0.1722 Uncertain 11_117776471_C->T 11 117776471 117776471 C T snp 1523.77 0/1 99 120 66 54 0.45 intronic rs3802873 TMPRSS13 AU NM_001244995 exon4 c.2300+20C>T 0.251198 0.2421 0.255065 0.3375 0.2766 Uncertain 11_117781435_A->G 11 117781435 117781435 A G snp 1012.77 0/1 99 79 38 41 0.52 exonic rs2155194 TMPRSS13 AU synonymous SNV NM_001206789 exon6 c.T828C p.S276S 0.916733 0.875 0.962718 0.9435 0.8812 Uncertain 11_117781618_A->G 11 117781618 117781618 A G snp 159.77 0/1 99 27 18 9 0.33 intronic rs2155195 TMPRSS13 AU NM_001244995 exon7 c.7314+153A>G 0.255391 0.1885 Uncertain 11_117782638_A->G 11 117782638 117782638 A G snp 354.77 0/1 99 40 22 18 0.45 intronic rs2277288 TMPRSS13 AU NM_001244995 exon8 c.8424+63A>G 0.274361 0.2014 Uncertain 11_117784434_C->G 11 117784434 117784434 C G snp 895.77 0/1 99 68 33 35 0.51 intronic rs11605749 TMPRSS13 AU NM_001244995 exon9 c.10340-57C>G 0.228035 0.2113 Uncertain 11_117784714_T->C 11 117784714 117784714 T C snp 151.77 0/1 99 9 4 5 0.56 intronic rs11216618 TMPRSS13 AU NM_001244995 exon9 c.10470+93T>C 0.164936 0.1181 Uncertain 11_117785260_T->C 11 117785260 117785260 T C snp 1787.77 0/1 99 152 80 72 0.47 intronic rs4936410 TMPRSS13 AU NM_001244995 exon10 c.11078+31T>C 0.222843 0.2143 0.251537 0.2888 0.1864 Uncertain 11_117789313_GGGCTGGAGATGCCT->- 11 117789313 117789327 GGGCTGGAGATGCCT - indel 7894.73 1/1 99 103 0 103 1.0 exonic rs201746372 TMPRSS13 AU nonframeshift deletion NM_001077263 exon2 c.248_262del p.83_88del 0.775306 0.7464 0.6714 ID=COSM253906,COSM1745173;OCCURENCE=3(urinary_tract),1(large_intestine),1(breast) Uncertain 11_117790658_C->G 11 117790658 117790658 C G snp 1760.77 1/1 99 63 0 63 1.0 intronic rs10790220 TMPRSS13 AU NM_001244995 exon12 c.15402+1105C>G 0.994209 1 Uncertain 11_117790674_A->G 11 117790674 117790674 A G snp 635.77 0/1 99 50 23 27 0.54 intronic rs12418028 TMPRSS13 AU NM_001244995 exon12 c.15402+1121A>G 0.709665 0.6577 Uncertain 11_117799804_C->T 11 117799804 117799804 C T snp 544.77 0/1 99 56 32 24 0.43 intronic rs722729 TMPRSS13 AU NM_001244995 exon13 c.25850-197C>T 0.197085 0.1161 Uncertain 11_117799923_T->C 11 117799923 117799923 T C snp 1963.77 0/1 99 158 72 86 0.54 intronic rs7928668 TMPRSS13 AU NM_001244995 exon13 c.25850-78T>C 0.623003 0.6766 0.590232 Uncertain 11_117800083_T->C 11 117800083 117800083 T C snp 978.77 0/1 99 86 43 43 0.5 UTR5 rs10892196 TMPRSS13 AU 0.621605 0.6716 0.589356 Uncertain 11_117800169_C->T 11 117800169 117800169 C T snp 247.77 0/1 99 19 11 8 0.42 upstream rs11600129 TMPRSS13 AU 0.615016 0.6716 Uncertain 11_117858983_G->A 11 117858983 117858983 G A snp 56.74 1/1 6 2 0 2 1.0 intronic rs4252248 IL10RA AR NM_001558 exon2 c.1914-113G>A 0.771565 0.9931 Uncertain 11_117863829_T->C 11 117863829 117863829 T C snp 750.77 1/1 57 23 0 23 1.0 intronic rs2508450 IL10RA AR NM_001558 exon4 c.6773-126T>C 0.573083 0.9147 Uncertain 11_117863888_C->G 11 117863888 117863888 C G snp 1043.77 0/1 99 80 35 45 0.56 intronic rs4252307 IL10RA AR NM_001558 exon4 c.6773-67C>G 0.113818 0.374 Uncertain 11_117864047_A->G 11 117864047 117864047 A G snp 1283.77 0/1 99 118 66 52 0.44 exonic rs2256111 IL10RA AR synonymous SNV NM_001558 exon4 c.A459G p.A153A 0.516773 0.5536 0.501385 0.5273 0.6144 Uncertain 11_117864113_G->A 11 117864113 117864113 G A snp 1052.77 0/1 99 62 24 38 0.61 exonic rs2228054 IL10RA AR synonymous SNV NM_001558 exon4 c.G525A p.P175P 0.116613 0.376 0.041795 0.0822 0.3290 Uncertain 11_117864846_A->G 11 117864846 117864846 A G snp 692.77 0/1 99 50 23 27 0.54 exonic rs2228055 IL10RA AR nonsynonymous SNV NM_001558 exon5 c.A670G p.I224V 0.114417 0.376 0.040871 0.0808 0.3285 1 T 0.0 P -0.987 T 0.0 T 0.001 T Pathogenic 11_117869670_A->G 11 117869670 117869670 A G snp 4433.77 1/1 99 151 0 151 1.0 exonic rs2229113 IL10RA AR nonsynonymous SNV NM_001558 exon7 c.A1051G p.R351G 0.811102 0.9931 0.728448 0.7381 0.9956 0.71 T 0.0 P -1.002 T 0.0 T 0.0 T ID=CM035836;DIS=Diminished inhibitory effect on TNF-alpha production, association;TAG=DFP;PUB=12759436 DFP Pathogenic 11_117896135_C->T 11 117896135 117896135 C T snp 743.77 0/1 99 66 34 32 0.48 ncRNA_intronic rs58768562 TMPRSS4-AS1 AU 0.167931 0.3998 0.1800 0.4026 Uncertain 11_117896521_T->A 11 117896521 117896521 T A snp 444.77 0/1 99 53 33 20 0.38 ncRNA_intronic rs56137014 TMPRSS4-AS1 AU 0.167931 0.3998 0.1180 0.3673 0.45 T -0.921 T Uncertain 11_117965530_A->G 11 117965530 117965530 A G snp 1945.77 0/1 99 177 87 90 0.51 splicing rs2276122 TMPRSS4 AU NM_001083947 exon2 c.17513A>G 0.306709 0.3502 0.280095 0.4003 0.4011 0.001 P Pathogenic 11_117979744_C->A 11 117979744 117979744 C A snp 615.77 0/1 99 38 15 23 0.61 intronic rs10892216 TMPRSS4 AU NM_001083947 exon7 c.31594+133C>A 0.828674 0.9504 Uncertain 11_117979814_C->T 11 117979814 117979814 C T snp 86.77 0/1 30 5 1 4 0.8 intronic rs10892217 TMPRSS4 AU NM_001083947 exon7 c.31594+203C>T 0.828075 0.9504 Uncertain 11_117982495_T->G 11 117982495 117982495 T G snp 7265.77 1/1 99 250 0 250 1.0 exonic rs1941635 TMPRSS4 AU nonsynonymous SNV NM_019894 exon8 c.T623G p.V208G 0.979233 0.995 0.969674 0.9647 0.9917 1 T 0.589 P -0.968 T 0.0 T 0.0 T Pathogenic 11_117986152_A->C 11 117986152 117986152 A C snp 80.77 0/1 30 4 1 3 0.75 intronic rs7925897 TMPRSS4 AU NM_001083947 exon11 c.37978+157A>C 0.151757 0.0456 Uncertain 11_117988082_T->C 11 117988082 117988082 T C snp 1455.77 0/1 99 135 72 63 0.47 exonic rs642215 TMPRSS4 AU synonymous SNV NM_019894 exon12 c.T1215C p.S405S 0.783347 0.5734 0.909483 0.8491 0.5749 Uncertain 11_117988223_G->A 11 117988223 117988223 G A snp 1083.77 0/1 99 85 41 44 0.52 intronic rs643014 TMPRSS4 AU NM_001083947 exon12 c.40152+54G>A 0.783347 0.5734 Uncertain 11_117988784_A->G 11 117988784 117988784 A G snp 99.28 1/1 9 3 0 3 1.0 UTR3 rs8924 TMPRSS4 AU 0.673922 0.7113 Uncertain 11_117996119_C->T 11 117996119 117996119 C T snp 435.77 1/1 33 13 0 13 1.0 intergenic rs7944738 TMPRSS4 AU 0.670927 0.7073 Uncertain 11_118016068_C->T 11 118016068 118016068 C T snp 267.77 0/1 99 13 4 9 0.69 intronic rs1793137 SCN4B AD NM_001142349 exon4 c.8443-116C>T 0.684904 0.8274 0.6820 0.8361 Uncertain 11_118037813_G->T 11 118037813 118037813 G T snp 3944.77 1/1 99 129 0 129 1.0 intronic rs8192613 SCN2B AD NM_004588 exon1 c.200+12G>T 0.514377 0.7758 0.438106 0.5022 0.7731 Uncertain 11_118067426_A->G 11 118067426 118067426 A G snp 505.77 0/1 99 39 21 18 0.46 intronic rs648947 AMICA1 AU NM_001098526 exon2 c.2410-23A>G 0.600839 0.5873 0.573815 0.5844 0.5743 Uncertain 11_118067621_A->G 11 118067621 118067621 A G snp 1569.77 0/1 99 141 73 68 0.48 intronic rs951657 AMICA1 AU NM_001098526 exon2 c.2497+85A>G 0.600839 0.5873 Uncertain 11_118068949_C->T 11 118068949 118068949 C T snp 676.77 0/1 99 51 24 27 0.53 intronic rs1617182 AMICA1 AU NM_001098526 exon3 c.3767+143C>T 0.54373 0.5694 Uncertain 11_118071097_T->C 11 118071097 118071097 T C snp 247.77 0/1 99 17 8 9 0.53 intronic rs1626649 AMICA1 AU NM_001098526 exon4 c.6149-91T>C 0.543131 0.5665 Uncertain 11_118074117_A->G 11 118074117 118074117 A G snp 233.77 0/1 99 33 24 9 0.27 intronic rs1793173 AMICA1 AU NM_001098526 exon5 c.9103-25A>G 0.801917 0.6736 0.807343 0.7723 0.6784 Uncertain 11_118074337_A->G 11 118074337 118074337 A G snp 966.77 0/1 99 97 55 42 0.43 exonic rs1793174 AMICA1 AU nonsynonymous SNV NM_001286570 exon5 c.T461C p.V154A 0.802516 0.6736 0.807343 0.7723 0.6789 0.99 T 0.0 P -0.902 T 0.023 T 0.025 T Pathogenic 11_118081345_A->T 11 118081345 118081345 A T snp 830.77 0/1 99 78 39 39 0.5 exonic rs17121881 AMICA1 AU nonsynonymous SNV NM_001286570 exon3 c.T164A p.I55N 0.467452 0.5387 0.447352 0.5370 0.5314 0.24 T 0.0 P -0.894 T 0.993 D 0.746 D Pathogenic 11_118081468_C->T 11 118081468 118081468 C T snp 588.77 0/1 99 55 29 26 0.47 intronic rs17121882 AMICA1 AU NM_001098526 exon7 c.16388+41C>T 0.467452 0.5387 0.447275 0.5370 0.5343 Uncertain 11_118083664_A->G 11 118083664 118083664 A G snp 2457.77 0/1 99 223 112 111 0.5 UTR5 rs1715429 AMICA1 AU 0.810503 0.6964 0.810345 0.7743 0.6960 Uncertain 11_118107805_A->G 11 118107805 118107805 A G snp 1745.77 0/1 99 121 48 73 0.6 exonic rs1793140 MPZL3 AU synonymous SNV NM_001286152 exon3 c.T375C p.H125H 0.804912 0.6944 0.794720 0.7579 0.6895 Uncertain 11_118108003_G->A 11 118108003 118108003 G A snp 1586.77 0/1 99 102 37 65 0.64 intronic rs1793141 MPZL3 AU NM_198275 exon4 c.7367+28G>A 0.792133 0.6806 0.782328 0.7471 0.6799 Uncertain 11_118110977_T->C 11 118110977 118110977 T C snp 3029.77 0/1 99 250 123 127 0.51 exonic rs2853006 MPZL3 AU synonymous SNV NM_001286152 exon2 c.A153G p.K51K 0.792133 0.6806 0.785099 0.7470 0.6794 Uncertain 11_118209960_A->C 11 118209960 118209960 A C snp 995.77 1/1 36 35 1 34 0.97 intronic rs2276424 CD3D AR NM_000732 exon1 c.66+18A>C 0.625799 0.8006 0.614070 0.6752 0.7779 Uncertain 11_118210106_G->C 11 118210106 118210106 G C snp 865.77 1/1 63 28 0 28 1.0 intronic rs2276423 CD3D AR NM_000732 exon2 c.289-59G>C 0.711661 0.8006 0.722295 Uncertain 11_118210424_-->ACAC 11 118210424 118210424 - ACAC indel 5274.73 1/1 99 114 1 113 0.99 intronic rs371267418 CD3D AR NM_000732 exon3 c.613-65insACAC Uncertain 11_118309873_C->A 11 118309873 118309873 C A snp 69.77 0/1 98 40 29 11 0.28 intronic KMT2A AD NM_005933 exon1 c.432+2214C>A Uncertain 11_118359161_G->A 11 118359161 118359161 G A snp 324.78 1/1 27 9 0 9 1.0 intronic KMT2A AD NM_005933 exon11 c.52101-167G>A 0.593051 0.4127 0.740288 0.6858 0.4726 Uncertain 11_118362414_T->C 11 118362414 118362414 T C snp 1407.77 1/1 99 46 0 46 1.0 intronic KMT2A AD NM_005933 exon15 c.55231-44T>C 0.746805 0.4524 0.880850 0.8218 0.5135 Uncertain 11_118404804_G->A 11 118404804 118404804 G A snp 4932.77 1/1 99 182 2 180 0.99 exonic TMEM25 AU synonymous SNV NM_001144036 exon5 c.G453A p.P151P 0.240016 0.2302 0.262972 0.2895 0.2708 1.000 P -0.920 T Likely benign 11_118405343_G->A 11 118405343 118405343 G A snp 7114.77 1/1 99 249 1 248 1.0 UTR3 TMEM25 AU 0.983427 1 0.958199 0.9595 1 Uncertain 11_118486665_G->C 11 118486665 118486665 G C snp 1208.77 0/1 99 94 52 42 0.45 intronic rs145368512 PHLDB1 AU NM_001144758 exon4 c.2204-90G>C 0.00758786 0.005 Uncertain 11_118499469_C->G 11 118499469 118499469 C G snp 224.84 1/1 18 6 0 6 1.0 intronic rs577396 PHLDB1 AU NM_001144758 exon6 c.14815+103C>G 0.572883 0.6548 Uncertain 11_118500745_TTT->- 11 118500745 118500747 TTT - indel 156.73 0/1 99 13 7 6 0.46 intronic rs782227950 PHLDB1 AU NM_001144758 exon7 c.17372-1178_17372-1176delTTT 0.0519 0.0449 Uncertain 11_118502492_C->G 11 118502492 118502492 C G snp 1230.77 1/1 90 32 0 32 1.0 intronic rs517124 PHLDB1 AU NM_001144758 exon8 c.18078-137C>G 0.450479 0.5655 Uncertain 11_118505677_T->- 11 118505677 118505677 T - indel 1871.73 1/1 99 42 0 42 1.0 intronic rs58507527 PHLDB1 AU NM_001144758 exon10 c.21559-433delT 1 1 1 1 Uncertain 11_118509668_A->G 11 118509668 118509668 A G snp 3129.77 1/1 99 120 0 120 1.0 exonic rs483598 PHLDB1 AU synonymous SNV NM_015157 exon12 c.A2595G p.E865E 0.572684 0.6558 0.525793 0.5861 0.7131 Uncertain 11_118512162_G->A 11 118512162 118512162 G A snp 222.84 1/1 18 6 0 6 1.0 intronic rs570836 PHLDB1 AU NM_001144758 exon13 c.28420-809G>A 0.310104 0.3839 Uncertain 11_118518965_C->- 11 118518965 118518965 C - indel 189.87 1/1 15 5 0 5 1.0 intronic rs11314049 PHLDB1 AU NM_001144758 exon18 c.34241+173delC 1 1 Uncertain 11_118529017_T->G 11 118529017 118529017 T G snp 347.78 1/1 27 16 0 16 1.0 exonic TREH AU unknown 1 1 1.0000 0.9998 0.0 P Uncertain 11_118529044_-->G 11 118529044 118529044 - G indel 507.73 1/1 36 12 0 12 1.0 exonic rs11448549 TREH AU unknown 0.9998 1 0.9998 0.9995 Uncertain 11_118529069_G->C 11 118529069 118529069 G C snp 275.8 1/1 21 11 0 11 1.0 exonic TREH AU unknown 1 1 1.0000 0.9999 0.56 T 0.0 P -1.023 T 0.0 T 0.0 T Uncertain 11_118529078_G->C 11 118529078 118529078 G C snp 305.78 1/1 24 12 0 12 1.0 exonic TREH AU unknown 1 1 1.0000 0.9999 0.27 T 0.0 P -1.020 T 0.0 T 0.002 T Uncertain 11_118529595_A->G 11 118529595 118529595 A G snp 5622.77 1/1 99 191 0 191 1.0 intronic TREH AU NM_007180 exon3 c.615-18A>G 0.305511 0.3879 0.279207 0.3370 0.4267 Uncertain 11_118529703_G->A 11 118529703 118529703 G A snp 2846.77 1/1 99 99 0 99 1.0 exonic TREH AU unknown 0.113019 0.3879 0.014123 0.0766 0.4237 0.06 T 0.0 P -0.945 T 0.998 D 0.829 D Uncertain 11_118550017_T->C 11 118550017 118550017 T C snp 54.74 1/1 6 2 0 2 1.0 intronic TREH AU NM_007180 exon15 c.21249-230T>C 0.349441 0.4087 Uncertain 11_118622744_G->A 11 118622744 118622744 G A snp 1292.77 1/1 93 49 0 49 1.0 UTR3 DDX6 AU 0.994209 1 Uncertain 11_118625609_C->T 11 118625609 118625609 C T snp 1028.77 1/1 75 29 0 29 1.0 intronic DDX6 AU NM_004397 exon2 c.176+13C>T 0.88758 0.999 0.8909 0.9997 Uncertain 11_118651809_T->C 11 118651809 118651809 T C snp 4977.77 1/1 99 186 0 186 1.0 intronic DDX6 AU NM_004397 exon12 c.26409-20T>C 0.357428 0.3492 0.386802 0.4592 0.4643 Uncertain 11_118757057_AA->- 11 118757057 118757058 AA - indel 561.73 ./1 99 67 4 63 0.94 intronic rs542894846 CXCR5 AU NM_001716 exon1 c.51+2356_51+2357delAA 0.2508 0.25 Uncertain 11_118757057_A->- 11 118757057 118757057 A - indel 561.73 ./1 99 67 4 63 0.94 intronic rs5795149 CXCR5 AU NM_001716 exon1 c.51+2356delA 0.2621 0.3790 Uncertain 11_118757191_G->A 11 118757191 118757191 G A snp 536.77 0/1 99 41 17 24 0.59 intronic rs1790192 CXCR5 AU NM_001716 exon1 c.51+2490G>A 0.545527 0.5813 0.6052 0.5351 0 D 0.0 P -0.911 T Uncertain 11_118757201_C->G 11 118757201 118757201 C G snp 967.77 1/1 69 38 0 38 1.0 intronic rs3176908 CXCR5 AU NM_001716 exon1 c.51+2500C>G 0.945687 1 0.9939 1 Uncertain 11_118757219_C->G 11 118757219 118757219 C G snp 378.77 0/1 99 34 16 18 0.53 intronic rs1623316 CXCR5 AU NM_001716 exon1 c.51+2518C>G 0.506589 0.5506 0.4569 0.5857 Uncertain 11_118769032_G->A 11 118769032 118769032 G A snp 488.77 1/1 39 15 0 15 1.0 UTR3 rs11217081 BCL9L AU 0.465455 0.7113 Uncertain 11_118781601_-->A 11 118781601 118781601 - A indel 8724.73 1/1 99 226 1 225 1.0 UTR5 rs11376918 BCL9L AU 1 1 Uncertain 11_118781638_-->G 11 118781638 118781638 - G indel 6853.73 1/1 99 165 0 165 1.0 upstream;downstream rs11376919 BCL9L;MIR4492 UN 1 1 Uncertain 11_118781655_-->G 11 118781655 118781655 - G indel 5173.73 1/1 99 131 0 131 1.0 upstream;downstream rs11376920 BCL9L;MIR4492 UN 1 1 Uncertain 11_118842745_-->G 11 118842745 118842745 - G indel 3852.73 1/1 99 112 0 112 1.0 intronic rs36158515 FOXR1 AU NM_181721 exon1 c.61+43insG 0.9998 0.999 0.999654 0.9999 1 Uncertain 11_118842780_-->G 11 118842780 118842780 - G indel 1622.73 1/1 99 40 0 40 1.0 intronic rs376000968 FOXR1 AU NM_181721 exon1 c.61+78insG 0.999601 1 Uncertain 11_118868842_-->G 11 118868842 118868842 - G indel 277.75 1/1 24 8 0 8 1.0 upstream rs367764202 CCDC84 AU 0.9998 1 Uncertain 11_118889114_A->G 11 118889114 118889114 A G snp 4033.77 1/1 99 143 0 143 1.0 upstream MIR3656 AU 0.992812 1 Uncertain 11_118889247_-->G 11 118889247 118889247 - G indel 280.77 1/1 21 7 0 7 1.0 UTR5 rs11440855 TRAPPC4 AU 1 1 Uncertain 11_118897260_G->A 11 118897260 118897260 G A snp 76.77 0/1 99 9 5 4 0.44 intronic SLC37A4 AR NM_001164279 exon4 c.1693-52G>A Uncertain 11_118898436_C->- 11 118898436 118898436 C - indel 10372.7 1/1 99 248 0 248 1.0 splicing rs56966114 SLC37A4 AR NM_001164279 exon7 c.2817delC 1 1 1 1 Pathogenic 11_118915758_G->- 11 118915758 118915758 G - indel 1460.73 1/1 99 38 0 38 1.0 UTR3 rs11363127 HYOU1 AU 1 1 Uncertain 11_118915944_A->G 11 118915944 118915944 A G snp 927.77 1/1 69 33 0 33 1.0 UTR3 HYOU1 AU 0.51897 0.7391 Uncertain 11_118917587_C->T 11 118917587 118917587 C T snp 124.77 0/1 66 7 2 5 0.71 intronic HYOU1 AU NM_006389 exon4 c.1210+73C>T 0.16893 0.3006 Uncertain 11_118919132_G->A 11 118919132 118919132 G A snp 2850.77 1/1 99 102 0 102 1.0 intronic HYOU1 AU NM_006389 exon7 c.2778+50G>A 0.448882 0.7282 0.386297 0.4599 0.7712 Uncertain 11_118919206_T->C 11 118919206 118919206 T C snp 4293.77 1/1 99 155 0 155 1.0 exonic rs552921547 HYOU1 AU synonymous SNV NM_001130991 exon19 c.A2235G p.A745A 0.803914 0.9454 0.794611 0.8172 0.9531 Uncertain 11_118920112_A->G 11 118920112 118920112 A G snp 956.77 1/1 72 34 0 34 1.0 intronic HYOU1 AU NM_006389 exon11 c.3963-155A>G 0.797524 0.9345 0.8446 0.94 Uncertain 11_118920453_T->C 11 118920453 118920453 T C snp 4711.77 1/1 99 164 0 164 1.0 intronic HYOU1 AU NM_006389 exon12 c.4184-35T>C 0.896366 0.9454 0.891917 0.8457 0.9535 Uncertain 11_118922200_G->A 11 118922200 118922200 G A snp 1230.77 0/1 99 89 43 46 0.52 exonic HYOU1 AU synonymous SNV NM_001130991 exon13 c.C1476T p.N492N 0.161741 0.2986 0.086143 0.1356 0.3341 Uncertain 11_118925341_G->A 11 118925341 118925341 G A snp 2419.77 1/1 99 93 1 92 0.99 exonic HYOU1 AU synonymous SNV NM_001130991 exon7 c.C543T p.N181N 0.432308 0.7192 0.372825 0.4452 0.7609 Uncertain 11_118926720_A->C 11 118926720 118926720 A C snp 1995.77 1/1 99 62 0 62 1.0 intronic HYOU1 AU NM_006389 exon25 c.10477-61A>C 0.898962 0.9454 Uncertain 11_118927013_-->C 11 118927013 118927013 - C indel 5420.73 1/1 99 147 0 147 1.0 intronic rs372876958 HYOU1 AU NM_006389 exon25 c.10575+134insC 1 1 0.9999 1 Uncertain 11_118938880_A->G 11 118938880 118938880 A G snp 856.77 1/1 63 23 0 23 1.0 intronic VPS11 AR NM_001290185 exon1 c.134-33A>G 0.427915 0.7202 Uncertain 11_118938882_C->T 11 118938882 118938882 C T snp 815.77 1/1 60 23 0 23 1.0 intronic VPS11 AR NM_001290185 exon1 c.134-31C>T 0.871006 0.9454 Uncertain 11_118939939_-->C 11 118939939 118939939 - C indel 3278.73 1/1 99 82 0 82 1.0 exonic VPS11 AR unknown 0.9955 0.9819 Uncertain 11_118947634_C->T 11 118947634 118947634 C T snp 4673.77 1/1 99 168 0 168 1.0 exonic VPS11 AR unknown 0.431909 0.7192 0.369185 0.4448 0.7591 Uncertain 11_118955679_C->T 11 118955679 118955679 C T snp 7375.77 1/1 99 250 0 250 1.0 UTR5 HMBS AD 0.404153 0.7063 0.340718 Uncertain 11_118973112_A->G 11 118973112 118973112 A G snp 1142.77 0/1 99 134 79 55 0.41 upstream rs3825060 DPAGT1 AR 0.901757 0.7956 0.8998 0.8157 Uncertain 11_118973113_A->C 11 118973113 118973113 A C snp 1167.77 0/1 99 134 77 57 0.43 upstream rs3825059 DPAGT1 AR 0.902356 0.7956 0.8994 0.8149 Uncertain 11_119003322_C->A 11 119003322 119003322 C A snp 5800.77 1/1 99 224 1 223 1.0 intronic rs662069 HINFP AU NM_001243259 exon6 c.5629+39C>A 0.400958 0.7183 0.342571 0.4146 0.7526 Uncertain 11_119004009_G->T 11 119004009 119004009 G T snp 2364.77 1/1 99 77 0 77 1.0 intronic rs672189 HINFP AU NM_001243259 exon9 c.6275+80G>T 0.401957 0.7183 Uncertain 11_119004026_C->T 11 119004026 119004026 C T snp 1568.77 1/1 99 50 0 50 1.0 intronic rs537153 HINFP AU NM_001243259 exon9 c.6275+97C>T 0.401757 0.7183 Uncertain 11_119004686_T->A 11 119004686 119004686 T A snp 942.77 1/1 69 30 0 30 1.0 intronic rs658922 HINFP AU NM_001243259 exon10 c.7077-45T>A 0.579872 0.8998 0.5262 0.9053 Uncertain 11_119005088_C->T 11 119005088 119005088 C T snp 6897.77 1/1 99 243 1 242 1.0 exonic rs512703 HINFP AU synonymous SNV NM_198971 exon10 c.C1434T p.I478I 0.98722 1 0.972440 0.9735 1 Uncertain 11_119005132_C->T 11 119005132 119005132 C T snp 5326.77 1/1 99 195 0 195 1.0 exonic rs100803 HINFP AU nonsynonymous SNV NM_198971 exon10 c.C1478T p.A493V 0.401757 0.7183 0.342802 0.4159 0.7525 0.2 T 0.000 P -1.018 T 0.0 T 0.001 T Pathogenic 11_119028813_C->G 11 119028813 119028813 C G snp 292.78 1/1 24 8 0 8 1.0 intronic rs626776 ABCG4 AU NM_001142505 exon10 c.8268-130C>G 0.786741 0.8978 Uncertain 11_119031841_-->C 11 119031841 119031841 - C indel 2322.73 1/1 99 64 0 64 1.0 UTR3 rs11383101 ABCG4 AU 1 1 1.0000 1 Uncertain 11_119043500_T->G 11 119043500 119043500 T G snp 1424.77 1/1 99 51 0 51 1.0 intronic rs644252 NLRX1 AU NM_001282358 exon4 c.1497-109T>G 0.726238 0.8839 Uncertain 11_119043656_C->T 11 119043656 119043656 C T snp 2353.77 1/1 99 92 0 92 1.0 exonic rs643423 NLRX1 AU nonsynonymous SNV NM_024618 exon4 c.C187T p.P63S 0.682308 0.8829 0.565820 0.5742 0.8851 0.92 T 0.0 P -0.992 T 0.005 T 0.002 T Pathogenic 11_119052826_C->A 11 119052826 119052826 C A snp 5747.77 1/1 99 213 0 213 1.0 exonic rs4245191 NLRX1 AU nonsynonymous SNV NM_024618 exon9 c.C2378A p.A793E 0.688299 0.8839 0.573364 0.5754 0.8854 1 T 0.000 P -0.956 T 0.014 T 0.02 T Pathogenic 11_119054488_C->T 11 119054488 119054488 C T snp 5254.77 1/1 99 174 0 174 1.0 UTR3 rs10790286 NLRX1 AU 0.511781 0.6518 0.467300 0.4648 0.6772 0 D 0.0 P -0.949 T Uncertain 11_119059404_G->A 11 119059404 119059404 G A snp 5276.77 1/1 99 186 1 185 0.99 exonic rs1815811 PDZD3 AU nonsynonymous SNV NM_001168468 exon9 c.G1115A p.R372Q 0.664936 0.879 0.559045 0.5810 0.8810 0.73 T 0.0 P -1.006 T 0.002 T 0.0 T Pathogenic 11_119060963_T->C 11 119060963 119060963 T C snp 1421.77 1/1 99 47 0 47 1.0 UTR3 rs45535039 CCDC153 AU 0.384385 0.5169 0.269438 0.3326 0.4874 Uncertain 11_119065484_-->C 11 119065484 119065484 - C indel 2049.73 1/1 99 53 0 53 1.0 intronic rs397689503 CCDC153 AU NM_001145018 exon5 c.4624-148insC 0.9998 1 Uncertain 11_119065709_G->C 11 119065709 119065709 G C snp 3550.77 1/1 99 116 0 116 1.0 splicing rs10750139 CCDC153 AU NM_001145018 exon5 c.4696+5G>C 0.730831 0.8859 0.617389 0.6678 0.8774 Pathogenic 11_119144402_A->G 11 119144402 119144402 A G snp 56.74 1/1 6 2 0 2 1.0 intronic rs2510150 CBL AD,AO NM_005188 exon4 c.67450-175A>G 0.98722 1 Uncertain 11_119145705_-->T 11 119145705 119145705 - T indel 4229.73 1/1 99 117 1 116 0.99 intronic rs3842642 CBL AD,AO NM_005188 exon5 c.68536+42insT 0.383986 0.5139 0.268450 0.3317 0.4888 Uncertain 11_119146659_G->C 11 119146659 119146659 G C snp 1449.77 1/1 99 47 0 47 1.0 intronic rs2511854 CBL AD,AO NM_005188 exon6 c.69579-47G>C 0.731829 0.8829 0.626424 0.6033 0.8869 Uncertain 11_119148573_G->T 11 119148573 119148573 G T snp 5175.77 1/1 99 185 0 185 1.0 intronic rs2510152 CBL AD,AO NM_005188 exon7 c.71427+19G>T 0.728634 0.879 0.624577 0.6011 0.8826 CLINSIG=non-pathogenic;CLNDBN=Rasopathy;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000049226.3;CLNDSDB=MedGen;CLNDSDBID=CN166718 Uncertain 11_119155618_G->T 11 119155618 119155618 G T snp 493.77 1/1 36 20 0 20 1.0 intronic rs2298650 CBL AD,AO NM_005188 exon10 c.78551-60G>T 0.379593 0.5119 Uncertain 11_119158800_T->C 11 119158800 119158800 T C snp 105.77 0/1 99 10 6 4 0.4 intronic CBL AD,AO NM_005188 exon12 c.81529+144T>C Uncertain 11_119181170_T->C 11 119181170 119181170 T C snp 1532.77 0/1 99 131 65 66 0.5 exonic rs2249466 MCAM AU synonymous SNV NM_006500 exon15 c.A1800G p.L600L 0.748203 0.6577 0.725670 0.7404 0.6442 Uncertain 11_119181674_G->C 11 119181674 119181674 G C snp 3282.77 0/1 99 250 123 127 0.51 intronic rs2510146 MCAM AU NM_006500 exon3 c.1018+61G>C 0.801118 0.6498 0.7440 0.6327 Uncertain 11_119185133_C->T 11 119185133 119185133 C T snp 439.77 0/1 99 34 15 19 0.56 intronic rs6589731 MCAM AU NM_006500 exon12 c.4603-65C>T 0.483626 0.4028 Uncertain 11_119205735_T->C 11 119205735 119205735 T C snp 277.77 0/1 99 29 17 12 0.41 UTR5 rs12797083 RNF26 AU 0.295128 0.1607 Uncertain 11_119205830_A->G 11 119205830 119205830 A G snp 1607.77 0/1 99 139 72 67 0.48 UTR5 rs12795576 RNF26 AU 0.292931 0.1617 0.408839 0.4132 0.1649 Uncertain 11_119206375_G->A 11 119206375 119206375 G A snp 3149.77 0/1 99 249 124 125 0.5 exonic rs2511841 RNF26 AU synonymous SNV NM_032015 exon1 c.G543A p.T181T 0.725639 0.6607 0.688328 0.7202 0.6430 Uncertain 11_119210583_G->T 11 119210583 119210583 G T snp 261.77 0/1 85 12 3 9 0.75 intronic rs1135258 C1QTNF5 AD NM_015645 exon1 c.518+25G>T 0.275559 0.1567 0.4804 0.2083 Uncertain 11_119214771_A->G 11 119214771 119214771 A G snp 264.77 0/1 99 32 22 10 0.31 intronic rs948413 C1QTNF5 AD NM_015645 exon7 c.4634+97A>G 0.460863 0.3194 Uncertain 11_119215165_C->T 11 119215165 119215165 C T snp 1727.77 1/1 99 60 0 60 1.0 intronic rs10790289 C1QTNF5 AD NM_015645 exon8 c.5061+64C>T 0.503395 0.4335 0.491459 Uncertain 11_119215253_G->C 11 119215253 119215253 G C snp 423.53 1/1 3 13 1 12 0.92 intronic rs2509388 C1QTNF5 AD NM_015645 exon9 c.5301-88G>C 0.611621 0.4821 Uncertain 11_119215256_C->T 11 119215256 119215256 C T snp 357.56 0/1 7 13 1 12 0.92 intronic rs10892350 C1QTNF5 AD NM_015645 exon9 c.5301-85C>T 0.509984 0.503 Uncertain 11_119216231_A->G 11 119216231 119216231 A G snp 3982.77 1/1 99 136 0 136 1.0 exonic rs2510143 MFRP AR,AU synonymous SNV NM_031433 exon5 c.T540C p.H180H 0.901957 0.875 0.927702 0.9364 0.8715 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000153496.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 11_119216504_C->T 11 119216504 119216504 C T snp 1373.77 0/1 99 128 67 61 0.48 exonic rs3814762 MFRP AR,AU nonsynonymous SNV NM_031433 exon4 c.G406A p.V136M 0.182109 0.2004 0.246381 0.2664 0.1926 0.22 T 0.0 P -0.994 T 0.079 T 0.009 T CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000153499.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 11_119217254_C->T 11 119217254 119217254 C T snp 1056.77 1/1 75 41 0 41 1.0 UTR5 rs883247 C1QTNF5 AD 0.635583 0.7748 0.567293 0.5951 0.7230 Uncertain 11_119217311_G->A 11 119217311 119217311 G A snp 324.78 1/1 27 11 0 11 1.0 UTR5 rs883245 C1QTNF5 AD 0.583866 0.7708 Uncertain 11_119227844_G->C 11 119227844 119227844 G C snp 966.77 1/1 72 30 0 30 1.0 intronic rs11217253 USP2 AU NM_004205 exon2 c.352-52G>C 0.716254 0.8641 Uncertain 11_119229374_T->C 11 119229374 119229374 T C snp 1878.77 1/1 99 64 0 64 1.0 intronic rs7937208 USP2 AU NM_004205 exon7 c.1938-108T>C 0.805312 0.8968 Uncertain 11_119229964_G->A 11 119229964 119229964 G A snp 2426.77 1/1 99 86 0 86 1.0 exonic rs2241646 USP2 AU synonymous SNV NM_001243759 exon4 c.C309T p.Y103Y 0.707668 0.8611 0.660610 0.7144 0.8375 Uncertain 11_119230866_G->A 11 119230866 119230866 G A snp 155.77 0/1 99 14 6 8 0.57 intronic rs139684051 USP2 AU NM_004205 exon11 c.3349-27G>A 0.000599042 0.003 0.0002 0.0019 Uncertain 11_119244095_C->T 11 119244095 119244095 C T snp 1694.77 0/1 99 147 73 74 0.5 exonic rs587985 USP2 AU synonymous SNV NM_004205 exon2 c.G96A p.P32P 0.650958 0.8353 0.583154 0.6270 0.8051 Uncertain 11_119252151_C->T 11 119252151 119252151 C T snp 6916.77 1/1 99 250 0 250 1.0 intronic rs565296 USP2 AU NM_004205 exon13 c.24638-31C>T 0.883986 0.9196 0.8703 0.94 Uncertain 11_119252199_T->G 11 119252199 119252199 T G snp 6853.77 1/1 99 250 0 250 1.0 exonic rs670906 USP2 AU nonsynonymous SNV NM_001243759 exon1 c.A29C p.Y10S 0.93151 0.9603 0.8893 0.9646 0 D 1.000 P -0.991 T 0.0 T 0.0 T Pathogenic 11_119252448_C->T 11 119252448 119252448 C T snp 317.77 0/1 99 17 5 12 0.71 upstream rs7943722 USP2 AU 0.183307 0.0794 Uncertain 11_119290034_G->C 11 119290034 119290034 G C snp 2006.77 1/1 99 74 0 74 1.0 ncRNA_intronic rs1054735 USP2-AS1 AU 0.628994 0.88 0.6861 0.8640 0 D 0.0 P -1.050 T Uncertain 11_119291480_G->A 11 119291480 119291480 G A snp 3129.77 1/1 99 121 0 121 1.0 ncRNA_intronic rs3138091 USP2-AS1 AU 0.631589 0.879 Uncertain 11_119291594_C->T 11 119291594 119291594 C T snp 1192.77 0/1 99 100 48 52 0.52 exonic rs149084200 THY1 AU nonsynonymous SNV NM_006288 exon2 c.G22A p.A8T 0.000599042 0.003 0.0001 0.0013 0.28 T 0.557 N -1.038 T 0.014 T 0.003 T Pathogenic 11_119291688_A->G 11 119291688 119291688 A G snp 988.77 1/1 72 36 0 36 1.0 ncRNA_intronic rs3751026 USP2-AS1 AU 0.914137 0.9583 0.897941 Uncertain 11_119369297_G->A 11 119369297 119369297 G A snp 1525.77 0/1 99 118 56 62 0.53 ncRNA_exonic rs77693362 USP2-AS1 AU 0.0169728 0.0694 0.0118 0.0909 0 D -0.992 T Uncertain 11_119509118_G->A 11 119509118 119509118 G A snp 99.28 1/1 9 3 0 3 1.0 intronic rs34163098 PVRL1 AU NM_203285 exon1 c.150+161G>A 0.473043 0.4226 Uncertain 11_119509625_C->T 11 119509625 119509625 C T snp 189.77 0/1 99 22 12 10 0.45 intronic rs1022080 PVRL1 AU NM_203285 exon2 c.709+109C>T 0.708666 0.8006 Uncertain 11_119509685_G->- 11 119509685 119509685 G - indel 199.8 1/1 18 7 0 7 1.0 intronic rs11300332 PVRL1 AU NM_203285 exon2 c.709+169delG 1 1 Uncertain 11_119510644_A->C 11 119510644 119510644 A C snp 2493.77 0/1 99 222 111 111 0.5 exonic rs7940667 PVRL1 AU nonsynonymous SNV NM_203285 exon6 c.T1082G p.V361G 0.872804 0.9306 0.863874 0.9164 0.9487 0.13 T 0.0 P -0.973 T 0.0 T 0.001 T ID=CM066206;DIS=Cleft lip / palate, association with;TAG=DP;PUB=17089422 DP Pathogenic 11_119535452_G->C 11 119535452 119535452 G C snp 1348.77 0/1 99 103 46 57 0.55 UTR3 rs142987437 PVRL1 AU 0.0207668 0.0675 0.005082 0.0090 0.0652 Uncertain 11_119548698_T->G 11 119548698 119548698 T G snp 1064.77 1/1 78 35 0 35 1.0 intronic rs2292293 PVRL1 AU NM_203286 exon4 c.3266+131T>G 0.4375 0.5377 Uncertain 11_119584506_T->C 11 119584506 119584506 T C snp 194.77 0/1 99 16 7 9 0.56 intronic rs4245205 PVRL1 AU NM_203286 exon6 c.53883-14678T>C 0.960064 0.8948 Uncertain 11_119584876_A->T 11 119584876 119584876 A T snp 116.77 0/1 67 7 3 4 0.57 intronic rs7927510 PVRL1 AU NM_203286 exon6 c.53883-14308A>T 0.960863 0.8948 Uncertain 11_119879255_A->G 11 119879255 119879255 A G snp 111.77 0/1 99 9 5 4 0.44 intergenic rs609066 LOC102724301 AU 0.499002 0.3601 Uncertain 11_119879301_T->A 11 119879301 119879301 T A snp 181.77 0/1 99 22 13 9 0.41 intergenic rs11217628 LOC102724301 AU 0.0638978 0.2748 0.0333 0.2302 Uncertain 11_119879425_T->C 11 119879425 119879425 T C snp 726.77 0/1 99 68 35 33 0.49 intergenic rs648374 LOC102724301 AU 0.625 0.7956 0.6260 0.8182 Uncertain 11_119984202_A->G 11 119984202 119984202 A G snp 481.77 1/1 36 14 0 14 1.0 intronic rs506127 TRIM29 AU NM_012101 exon1 c.63+1018A>G 0.814696 0.755 Uncertain 11_119986119_T->C 11 119986119 119986119 T C snp 2347.77 0/1 99 238 137 101 0.42 exonic rs11604169 TRIM29 AU nonsynonymous SNV NM_012101 exon8 c.A1631G p.Y544C 0.0465256 0.12 0.008315 0.0253 0.1054 0.248 P -1.026 T 0.997 D 0.875 D Pathogenic 11_119986167_T->C 11 119986167 119986167 T C snp 3217.75 0/1 99 239 98 141 0.59 intronic rs503559 TRIM29 AU NM_012101 exon2 c.3001+45T>C 0.647165 0.6339 0.593485 0.5897 0.6845 Uncertain 11_119986175_G->C 11 119986175 119986175 G C snp 1908.77 0/1 99 217 135 82 0.38 intronic rs61095798 TRIM29 AU NM_012101 exon2 c.3001+53G>C 0.0732827 0.1657 0.021682 Uncertain 11_119986179_G->T 11 119986179 119986179 G T snp 1841.77 0/1 99 209 130 79 0.38 intronic rs2276160 TRIM29 AU NM_012101 exon2 c.3001+57G>T 0.0722843 0.1657 Uncertain 11_119986182_C->- 11 119986182 119986182 C - indel 2525.73 0/1 99 206 121 85 0.41 intronic rs56828071 TRIM29 AU NM_012101 exon2 c.3001+60delC 0.0720847 0.1657 0.027245 Uncertain 11_119986242_A->C 11 119986242 119986242 A C snp 1554.77 0/1 99 146 84 62 0.42 intronic rs2276159 TRIM29 AU NM_012101 exon2 c.3001+120A>C 0.0443291 0.12 Uncertain 11_119987517_A->G 11 119987517 119987517 A G snp 43.77 0/1 66 4 2 2 0.5 intronic rs489059 TRIM29 AU NM_012101 exon2 c.3001+1395A>G 0.645367 0.6032 Uncertain 11_119987576_C->T 11 119987576 119987576 C T snp 302.77 0/1 99 20 8 12 0.6 intronic rs488222 TRIM29 AU NM_012101 exon3 c.5809-1354C>T 0.797524 0.6012 Uncertain 11_119992871_-->GA 11 119992871 119992871 - GA indel 1912.73 ./1 99 29 0 29 1.0 intronic TRIM29 AU NM_012101 exon5 c.10540-790insGA Uncertain 11_119992871_-->GTGTGA 11 119992871 119992871 - GTGTGA indel 1912.73 ./1 99 29 0 29 1.0 intronic rs59569654 TRIM29 AU NM_012101 exon5 c.10540-790insGTGTGA Uncertain 11_119993898_CT->- 11 119993898 119993899 CT - indel 11258.7 1/1 99 239 0 239 1.0 intronic rs397722306 TRIM29 AU NM_012101 exon5 c.10642+135_10642+136delCT 0.92512 0.9563 0.9110 0.9636 Uncertain 11_119993995_G->A 11 119993995 119993995 G A snp 3055.77 0/1 99 250 120 130 0.52 intronic rs11217699 TRIM29 AU NM_012101 exon5 c.10642+232G>A 0.0497204 0.1518 0.0243 0.1963 Uncertain 11_119999191_A->G 11 119999191 119999191 A G snp 1214.77 1/1 90 40 0 40 1.0 exonic rs569044 TRIM29 AU synonymous SNV NM_012101 exon2 c.T817C p.L273L 0.925719 0.9583 0.921081 0.9099 0.9676 Uncertain 11_119999275_G->A 11 119999275 119999275 G A snp 1237.77 0/1 99 92 41 51 0.55 intronic rs12224041 TRIM29 AU NM_012101 exon8 c.16082+72G>A 0.0501198 0.1448 Uncertain 11_120007889_G->T 11 120007889 120007889 G T snp 2492.77 1/1 99 85 0 85 1.0 intronic rs470645 TRIM29 AU NM_012101 exon9 c.24814-46G>T 0.402556 0.244 0.448815 0.4376 0.2660 Uncertain 11_120040442_T->G 11 120040442 120040442 T G snp 810.77 0/1 99 54 25 29 0.54 intergenic rs2444240 TRIM29 AU 0.375399 0.2222 Uncertain 11_120040695_C->T 11 120040695 120040695 C T snp 1400.77 0/1 99 114 53 61 0.54 intergenic rs61900479 TRIM29 AU 0.21905 0.4792 0.1283 0.5816 Uncertain 11_120040860_G->A 11 120040860 120040860 G A snp 1672.77 0/1 99 156 80 76 0.49 intergenic rs556348397 TRIM29 AU 0.000399361 0.0006 0 1 N -1.020 T Uncertain 11_120041110_T->A 11 120041110 120041110 T A snp 2893.77 0/1 99 250 132 118 0.47 intergenic rs7949789 TRIM29 AU 0.349241 0.4802 0.3763 0.585 0.0 P -0.906 T Uncertain 11_120041444_C->T 11 120041444 120041444 C T snp 393.77 0/1 99 39 22 17 0.44 intergenic rs4936509 TRIM29 AU 0.5002 0.6329 0.5028 0.7376 Uncertain 11_120117335_C->T 11 120117335 120117335 C T snp 945.77 0/1 99 56 21 35 0.63 intronic rs73576276 POU2F3 AU NM_001244682 exon2 c.9844+109C>T 0.129992 0.2411 Uncertain 11_120170521_T->C 11 120170521 120170521 T C snp 369.77 0/1 99 45 30 15 0.33 intronic rs2298579 POU2F3 AU NM_001244682 exon5 c.63053+86T>C 0.179113 0.6389 Uncertain 11_120175749_A->G 11 120175749 120175749 A G snp 1158.77 1/1 84 46 0 46 1.0 exonic rs7110845 POU2F3 AU nonsynonymous SNV NM_001244682 exon7 c.A461G p.H154R 0.830272 0.9405 0.682636 0.6878 0.9423 1 T 0.000 P -0.936 T 0.0 T 0.0 T Pathogenic 11_120176310_G->A 11 120176310 120176310 G A snp 1213.77 0/1 99 99 45 54 0.55 intronic rs12790634 POU2F3 AU NM_001244682 exon8 c.68970-42G>A 0.176118 0.0298 0.271609 0.2723 0.0358 Uncertain 11_120186190_G->A 11 120186190 120186190 G A snp 453.77 0/1 99 39 19 20 0.51 intronic rs17245511 POU2F3 AU NM_001244682 exon11 c.78754+54G>A 0.133387 0.1895 0.111914 Uncertain 11_120187971_G->A 11 120187971 120187971 G A snp 1353.77 0/1 99 101 42 59 0.58 exonic rs2282537 POU2F3 AU nonsynonymous SNV NM_001244682 exon12 c.G1175A p.R392K 0.119609 0.1379 0.113196 0.1410 0.1472 0.31 T 0.999 P -0.982 T 0.0 T 0.001 T Pathogenic 11_120188964_A->C 11 120188964 120188964 A C snp 473.77 0/1 99 35 16 19 0.54 intronic rs61898345 POU2F3 AU NM_001244682 exon13 c.81679-97A>C 0.13119 0.1409 Uncertain 11_120189261_G->A 11 120189261 120189261 G A snp 188.77 0/1 99 13 7 6 0.46 UTR3 rs61898346 POU2F3 AU 0.0497204 0.0337 Uncertain 11_120198093_G->A 11 120198093 120198093 G A snp 728.77 1/1 54 26 0 26 1.0 exonic rs1893261 TMEM136 AU synonymous SNV NM_001198670 exon2 c.G9A p.Q3Q 0.398163 0.2897 0.398723 0.3934 0.2819 Uncertain 11_120278359_T->C 11 120278359 120278359 T C snp 232.84 1/1 18 9 0 9 1.0 intronic rs6589812 ARHGEF12 AU NM_001198665 exon3 c.70494-87T>C 0.427316 0.3185 Uncertain 11_120278688_T->C 11 120278688 120278688 T C snp 225.84 1/1 18 7 0 7 1.0 intronic rs7937612 ARHGEF12 AU NM_001198665 exon3 c.70580+156T>C 0.427516 0.3185 Uncertain 11_120292477_T->C 11 120292477 120292477 T C snp 946.77 0/1 99 98 52 46 0.47 intronic rs76693355 ARHGEF12 AU NM_001198665 exon5 c.84559-34T>C 0.100839 0.1607 0.086278 0.1177 0.1645 Uncertain 11_120292570_T->A 11 120292570 120292570 T A snp 1158.77 1/1 84 40 0 40 1.0 intronic rs532006 ARHGEF12 AU NM_001198665 exon5 c.84609+9T>A 0.985024 1 0.986532 0.9964 1 Uncertain 11_120312746_G->A 11 120312746 120312746 G A snp 1342.77 1/1 99 41 0 41 1.0 intronic rs723937 ARHGEF12 AU NM_001198665 exon14 c.104860-66G>A 0.460463 0.3194 Uncertain 11_120319064_A->C 11 120319064 120319064 A C snp 5874.77 1/1 99 215 0 215 1.0 intronic rs2305008 ARHGEF12 AU NM_001198665 exon19 c.111105+7A>C 0.427716 0.3194 0.435430 0.4203 0.3226 Uncertain 11_120330149_G->C 11 120330149 120330149 G C snp 221.84 1/1 18 7 0 7 1.0 intronic rs2305010 ARHGEF12 AU NM_001198665 exon25 c.122077+120G>C 0.439097 0.3194 Uncertain 11_120346360_G->A 11 120346360 120346360 G A snp 267.8 1/1 21 7 0 7 1.0 intronic rs2276035 ARHGEF12 AU NM_001198665 exon32 c.138264+144G>A 0.21266 0.2391 Uncertain 11_120347586_C->T 11 120347586 120347586 C T snp 158.77 0/1 99 16 10 6 0.38 intronic rs76034797 ARHGEF12 AU NM_001198665 exon33 c.139505+129C>T 0.0415335 0.0278 Uncertain 11_120347886_-->TGTTG 11 120347886 120347886 - TGTTG indel 1922.73 1/1 72 24 0 24 1.0 intronic rs111312404 ARHGEF12 AU NM_001198665 exon34 c.139975-41insTGTTG 0.424521 0.3204 0.431570 0.4231 0.3243 Uncertain 11_120348786_G->T 11 120348786 120348786 G T snp 30.77 0/1 59 11 9 2 0.18 intronic ARHGEF12 AU NM_001198665 exon36 c.140912-78G>T Uncertain 11_120382409_T->C 11 120382409 120382409 T C snp 221.77 0/1 99 24 15 9 0.38 upstream rs7952113 GRIK4 AU 0.701877 0.9415 Uncertain 11_120385841_T->C 11 120385841 120385841 T C snp 731.77 0/1 99 43 15 28 0.65 intronic rs2243746 GRIK4 AU 0.650359 0.4583 Uncertain 11_120530973_C->T 11 120530973 120530973 C T snp 990.77 0/1 99 87 46 41 0.47 splicing rs6589829 GRIK4 AU 0.51278 0.7351 0.497810 Pathogenic 11_120690372_T->C 11 120690372 120690372 T C snp 113.77 0/1 99 17 10 7 0.41 intronic rs56326825 GRIK4 AU NM_001282470 exon5 c.159436-91T>C 0.471246 0.4127 Uncertain 11_120702378_A->G 11 120702378 120702378 A G snp 38.77 0/1 67 5 3 2 0.4 intronic rs58359402 GRIK4 AU NM_001282470 exon6 c.171533-182A>G 0.355631 0.4782 Uncertain 11_120707644_C->T 11 120707644 120707644 C T snp 1583.77 0/1 99 102 38 64 0.63 intronic rs3934628 GRIK4 AU NM_001282470 exon7 c.176526+91C>T 0.338259 0.4613 Uncertain 11_120732508_C->T 11 120732508 120732508 C T snp 364.77 0/1 99 26 15 11 0.42 intronic rs3824978 GRIK4 AU NM_001282470 exon8 c.201640-159C>T 0.480232 0.3323 Uncertain 11_120776001_G->A 11 120776001 120776001 G A snp 4172.77 1/1 99 148 0 148 1.0 exonic rs2156634 GRIK4 AU synonymous SNV NM_014619 exon13 c.G1275A p.E425E 0.877995 0.9157 0.880729 0.8555 0.9084 Uncertain 11_120823528_A->G 11 120823528 120823528 A G snp 3475.77 1/1 99 127 0 127 1.0 intronic rs10750178 GRIK4 AU NM_001282470 exon14 c.292536-35A>G 0.896965 0.997 0.895494 0.9422 0.9995 Uncertain 11_120823608_G->A 11 120823608 120823608 G A snp 2069.77 0/1 99 221 118 103 0.47 exonic rs2298725 GRIK4 AU synonymous SNV NM_014619 exon15 c.G1635A p.P545P 0.257788 0.3264 0.246693 0.3155 0.3197 Uncertain 11_120823721_A->G 11 120823721 120823721 A G snp 588.77 0/1 99 72 46 26 0.36 intronic rs2298724 GRIK4 AU NM_001282470 exon14 c.292646+48A>G 0.265575 0.3294 0.259843 0.3298 0.3273 Uncertain 11_120827609_A->G 11 120827609 120827609 A G snp 4055.77 1/1 99 145 0 145 1.0 exonic rs644057 GRIK4 AU synonymous SNV NM_014619 exon16 c.A1821G p.Q607Q 0.714657 0.9911 0.605814 0.7304 0.9973 Uncertain 11_120837821_G->A 11 120837821 120837821 G A snp 866.77 0/1 99 72 37 35 0.49 intronic rs2276319 GRIK4 AU NM_001282470 exon18 c.306876-82G>A 0.455471 0.3542 Uncertain 11_120995842_C->T 11 120995842 120995842 C T snp 56.74 1/1 6 2 0 2 1.0 intronic rs560919 TECTA AR,AD NM_005422 exon7 c.22636-168C>T 0.750998 0.6815 Uncertain 11_120996292_A->G 11 120996292 120996292 A G snp 8081.77 1/1 99 250 0 250 1.0 exonic rs536069 TECTA AR,AD synonymous SNV NM_005422 exon7 c.A1485G p.A495A 0.772165 0.6815 0.770686 0.7117 0.6779 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000038480.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 11_120998942_C->T 11 120998942 120998942 C T snp 4502.77 1/1 99 154 0 154 1.0 exonic rs10502247 TECTA AR,AD synonymous SNV NM_005422 exon8 c.C2256T p.I752I 0.310304 0.4355 0.257382 0.3087 0.4287 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000038484.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 11_121000212_T->G 11 121000212 121000212 T G snp 1340.77 1/1 99 41 0 41 1.0 intronic rs643744 TECTA AR,AD NM_005422 exon9 c.26972-134T>G 0.750799 0.6815 Uncertain 11_121000784_T->C 11 121000784 121000784 T C snp 6735.77 1/1 99 249 0 249 1.0 exonic rs586473 TECTA AR,AD synonymous SNV NM_005422 exon9 c.T2805C p.Y935Y 0.751398 0.6835 0.746309 0.7041 0.6799 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_multiple_submitters\x2c_no_conflicts;CLNACC=RCV000038488.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 11_121023906_G->A 11 121023906 121023906 G A snp 56.74 1/1 6 2 0 2 1.0 intronic rs687329 TECTA AR,AD NM_005422 exon12 c.50415+117G>A 0.71905 0.5377 Uncertain 11_121032978_G->A 11 121032978 121032978 G A snp 4409.77 1/1 99 169 0 169 1.0 exonic rs526433 TECTA AR,AD nonsynonymous SNV NM_005422 exon15 c.G5171A p.S1724N 0.996805 1 0.992079 0.9927 1 0.75 T 0.001 P -0.948 T 0.0 T 0.0 T CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_multiple_submitters\x2c_no_conflicts;CLNACC=RCV000038501.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 11_121033105_A->G 11 121033105 121033105 A G snp 1977.77 1/1 99 68 0 68 1.0 intronic rs662496 TECTA AR,AD NM_005422 exon15 c.59705+26A>G 0.507588 0.3175 0.477382 0.4100 0.3190 Uncertain 11_121035860_G->T 11 121035860 121035860 G T snp 2212.77 1/1 99 79 0 79 1.0 intronic rs546916 TECTA AR,AD NM_005422 exon16 c.62607-121G>T 0.441094 0.3165 Uncertain 11_121038810_C->T 11 121038810 121038810 C T snp 6772.77 1/1 99 246 0 246 1.0 exonic rs2155369 TECTA AR,AD synonymous SNV NM_005422 exon18 c.C5634T p.S1878S 0.185304 0.3105 0.098816 0.1690 0.2988 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000038503.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 11_121175279_T->- 11 121175279 121175279 T - indel 568.73 0/1 99 40 8 32 0.8 intronic rs10712296 SC5D AR NM_006918 exon3 c.1118+77delT 0.294728 0.3552 Uncertain 11_121178302_A->C 11 121178302 121178302 A C snp 216.84 1/1 18 6 0 6 1.0 UTR3 rs1061332 SC5D AR 0.724641 0.7103 Uncertain 11_121323477_G->C 11 121323477 121323477 G C snp 227.84 1/1 18 8 0 8 1.0 intronic rs578506 SORL1 AU NM_003105 exon1 c.285+152G>C 0.428914 0.6825 Uncertain 11_121360884_T->A 11 121360884 121360884 T A snp 5073.77 1/1 99 175 0 175 1.0 intronic rs560573 SORL1 AU NM_003105 exon5 c.37779+65T>A 0.409545 0.5556 0.365309 Uncertain 11_121393212_C->G 11 121393212 121393212 C G snp 1174.77 1/1 84 38 0 38 1.0 intronic rs630813 SORL1 AU NM_003105 exon10 c.70254-82C>G 0.977436 1 Uncertain 11_121393226_C->T 11 121393226 121393226 C T snp 657.77 0/1 99 46 21 25 0.54 intronic rs12285364 SORL1 AU NM_003105 exon10 c.70254-68C>T 0.103834 0.121 Uncertain 11_121393684_G->A 11 121393684 121393684 G A snp 957.77 0/1 99 85 41 44 0.52 exonic rs2298813 SORL1 AU nonsynonymous SNV NM_003105 exon11 c.G1582A p.A528T 0.103235 0.121 0.060366 0.0722 0.1214 0.31 T 1.0 P -1.173 T 0.962 D 0.531 D ID=CM1413217;DIS=Alzheimer disease, late-onset, association with;TAG=DFP;PUB=25382023 DFP Pathogenic 11_121403229_T->C 11 121403229 121403229 T C snp 5251.77 1/1 99 183 0 183 1.0 exonic rs636588 SORL1 AU synonymous SNV NM_003105 exon12 c.T1653C p.A551A 0.985224 1 0.982621 0.9953 1 Uncertain 11_121403345_T->C 11 121403345 121403345 T C snp 2922.77 1/1 99 103 1 102 0.99 intronic rs631232 SORL1 AU NM_003105 exon12 c.80221+84T>C 0.985224 1 Uncertain 11_121415807_A->G 11 121415807 121415807 A G snp 94.28 1/1 9 3 0 3 1.0 intronic rs546034 SORL1 AU NM_003105 exon14 c.92911-144A>G 0.983427 1 Uncertain 11_121424882_G->A 11 121424882 121424882 G A snp 385.77 0/1 99 32 19 13 0.41 intronic rs2298814 SORL1 AU NM_003105 exon17 c.101778+64G>A 0.0417332 0.0893 Uncertain 11_121426042_G->A 11 121426042 121426042 G A snp 830.77 0/1 99 84 49 35 0.42 intronic rs6589885 SORL1 AU NM_003105 exon18 c.102987+15G>A 0.0439297 0.1002 0.029914 0.0254 0.0929 Uncertain 11_121437571_A->G 11 121437571 121437571 A G snp 212.84 1/1 18 6 0 6 1.0 intronic rs1784920 SORL1 AU NM_003105 exon22 c.114608-77A>G 0.767173 0.7222 Uncertain 11_121437819_C->G 11 121437819 121437819 C G snp 3476.77 1/1 99 131 0 131 1.0 exonic rs1699107 SORL1 AU nonsynonymous SNV NM_003105 exon22 c.C3220G p.Q1074E 0.984824 1 0.979699 0.9949 1 1 T 1.000 P -0.939 T 0.0 T 0.0 T Pathogenic 11_121445084_T->C 11 121445084 121445084 T C snp 2028.77 1/1 99 74 0 74 1.0 intronic rs1792126 SORL1 AU NM_003105 exon24 c.122032+12T>C 0.984824 1 0.979699 0.9949 1 Uncertain 11_121447807_A->G 11 121447807 121447807 A G snp 2392.77 1/1 99 79 0 79 1.0 intronic rs1790212 SORL1 AU NM_003105 exon25 c.124949-182A>G 0.985024 1 Uncertain 11_121448090_T->G 11 121448090 121448090 T G snp 6643.77 1/1 99 248 0 248 1.0 exonic rs2070045 SORL1 AU synonymous SNV NM_003105 exon25 c.T3561G p.S1187S 0.340855 0.5685 0.187558 0.3127 0.5789 ID=CM123835;DIS=Alzheimer disease, association with;TAG=DP;PUB=22410445 DP Uncertain 11_121448183_C->G 11 121448183 121448183 C G snp 4081.77 1/1 99 143 0 143 1.0 intronic rs3824966 SORL1 AU NM_003105 exon25 c.125069+74C>G 0.340655 0.5665 Uncertain 11_121475760_G->C 11 121475760 121475760 G C snp 308.77 0/1 99 19 7 12 0.63 intronic SORL1 AU NM_003105 exon34 c.152781-61G>C Uncertain 11_121475798_T->A 11 121475798 121475798 T A snp 1022.77 1/1 75 34 0 34 1.0 intronic rs1784929 SORL1 AU NM_003105 exon34 c.152781-23T>A 0.998602 1 0.997155 0.9993 1 Uncertain 11_121475922_T->A 11 121475922 121475922 T A snp 2343.77 1/1 99 82 0 82 1.0 exonic rs3824968 SORL1 AU synonymous SNV NM_003105 exon34 c.T4752A p.A1584A 0.396166 0.5883 0.254922 0.3811 0.6074 Uncertain 11_121478958_C->T 11 121478958 121478958 C T snp 1622.77 1/1 99 50 0 50 1.0 intronic rs2282649 SORL1 AU NM_003105 exon38 c.155845+73C>T 0.361222 0.5813 Uncertain 11_121489416_G->A 11 121489416 121489416 G A snp 1616.77 1/1 99 50 0 50 1.0 intronic rs1784933 SORL1 AU NM_003105 exon42 c.166442-66G>A 0.769968 0.6964 Uncertain 11_121491782_G->A 11 121491782 121491782 G A snp 3777.77 1/1 99 142 0 142 1.0 exonic rs1792120 SORL1 AU nonsynonymous SNV NM_003105 exon44 c.G5899A p.V1967I 0.979433 1 0.983310 0.9953 1 1 T 0.0 P -0.903 T 0.0 T 0.003 T Pathogenic 11_121493001_T->G 11 121493001 121493001 T G snp 523.77 0/1 99 52 28 24 0.46 intronic rs1614735 SORL1 AU NM_003105 exon45 c.169937+24T>G 0.26238 0.1419 0.385385 0.4118 0.1386 Uncertain 11_121493072_-->A 11 121493072 121493072 - A indel 549.73 1/1 60 26 0 26 1.0 intronic rs11454566 SORL1 AU NM_003105 exon45 c.169937+95insA 0.955671 0.994 Uncertain 11_122022927_C->T 11 122022927 122022927 C T snp 595.77 0/1 99 91 61 30 0.33 ncRNA_intronic rs543412 MIR100HG AU 0.352835 0.4067 0.318570 0.3202 0.3927 Uncertain 11_122165766_G->A 11 122165766 122165766 G A snp 1380.77 1/1 99 48 0 48 1.0 intergenic rs532540 MIR100HG AU 0.952875 1 Uncertain 11_122172060_G->A 11 122172060 122172060 G A snp 141.03 1/1 12 4 0 4 1.0 intergenic rs11218578 MIR100HG AU 0.0754792 0.123 0.1136 0.1304 Uncertain 11_122172113_T->C 11 122172113 122172113 T C snp 211.84 1/1 18 8 0 8 1.0 intergenic rs558962 MIR100HG AU 0.952276 1 0.9972 1 1 T -0.916 T Uncertain 11_122172318_C->T 11 122172318 122172318 C T snp 1168.77 1/1 84 41 0 41 1.0 intergenic rs615683 MIR100HG AU 0.953275 1 Uncertain 11_122172321_T->C 11 122172321 122172321 T C snp 1188.77 1/1 87 40 0 40 1.0 intergenic rs693194 MIR100HG AU 0.949281 0.999 Uncertain 11_122650172_C->G 11 122650172 122650172 C G snp 1221.77 1/1 57 35 1 34 0.97 intronic rs4935813 UBASH3B AU NM_032873 exon4 c.123447-32C>G 0.733227 0.7609 0.725965 0.7602 0.7572 Uncertain 11_122653572_T->C 11 122653572 122653572 T C snp 56.74 1/1 6 2 0 2 1.0 intronic rs11218809 UBASH3B AU NM_032873 exon5 c.127003-188T>C 0.902157 0.8065 Uncertain 11_122665437_A->G 11 122665437 122665437 A G snp 910.77 1/1 66 34 0 34 1.0 exonic rs872414 UBASH3B AU synonymous SNV NM_032873 exon7 c.A1008G p.S336S 0.5623 0.5615 0.501692 0.4537 0.5679 Uncertain 11_122665646_C->T 11 122665646 122665646 C T snp 48.74 1/1 6 2 0 2 1.0 intronic rs9988852 UBASH3B AU NM_032873 exon7 c.138785+104C>T 0.134585 0.3115 Uncertain 11_122676901_A->G 11 122676901 122676901 A G snp 96.28 1/1 9 3 0 3 1.0 intronic rs4936750 UBASH3B AU NM_032873 exon12 c.150360-216A>G 0.555511 0.5942 Uncertain 11_122709178_T->C 11 122709178 122709178 T C snp 2549.77 1/1 99 92 0 92 1.0 upstream rs3134425 CRTAM AU 0.717652 0.7778 0.648051 Uncertain 11_122724593_T->- 11 122724593 122724593 T - indel 2077.73 1/1 99 52 0 52 1.0 intronic rs58811874 CRTAM AU NM_019604 exon4 c.15396-57delT 0.247804 0.3353 Uncertain 11_122726705_C->T 11 122726705 122726705 C T snp 88.28 1/1 9 3 0 3 1.0 intronic rs7125644 CRTAM AU NM_019604 exon5 c.17310+141C>T 0.20028 0.3105 Uncertain 11_122738063_AA->- 11 122738063 122738064 AA - indel 124.86 0/1 2 6 1 5 0.83 intronic rs553505708 CRTAM AU NM_019604 exon8 c.28862-53_28862-52delAA 0.591254 0.6111 Uncertain 11_122738261_A->G 11 122738261 122738261 A G snp 2063.77 1/1 99 78 1 77 0.99 exonic rs2272094 CRTAM AU nonsynonymous SNV NM_001304782 exon3 c.A365G p.K122R 0.550319 0.4325 0.621520 0.6665 0.4434 0.54 T 0.989 P -0.963 T 0.058 T 0.018 T Pathogenic 11_122738897_TGTGTGTG->- 11 122738897 122738904 TGTGTGTG - indel 494.8 1/1 18 19 0 19 1.0 intronic CRTAM AU NM_019604 exon9 c.29553+90_29553+97delTGTGTGTG Uncertain 11_122775227_T->C 11 122775227 122775227 T C snp 556.77 1/1 42 14 0 14 1.0 intronic rs3107630 C11orf63 AU NM_199124 exon3 c.18595+75T>C 0.924521 0.9742 Uncertain 11_122776007_T->C 11 122776007 122776007 T C snp 1219.77 0/1 99 112 62 50 0.45 UTR3 rs74695569 C11orf63 AU 0.096246 0.2371 0.022996 Uncertain 11_122795386_C->T 11 122795386 122795386 C T snp 148.77 0/1 99 10 5 5 0.5 intronic rs11218890 C11orf63 AU NM_024806 exon4 c.39047-218C>T 0.182708 0.2014 Uncertain 11_122795688_T->C 11 122795688 122795688 T C snp 986.77 0/1 99 71 31 40 0.56 exonic rs11218891 C11orf63 AU synonymous SNV NM_024806 exon4 c.T948C p.D316D 0.180312 0.2024 0.240732 0.2437 0.2000 Uncertain 11_122795782_G->A 11 122795782 122795782 G A snp 334.77 0/1 99 18 8 10 0.56 intronic rs11218892 C11orf63 AU NM_024806 exon4 c.39161+64G>A 0.178714 0.2014 Uncertain 11_122830214_G->A 11 122830214 122830214 G A snp 1317.77 0/1 99 106 55 51 0.48 UTR3 rs7107502 C11orf63 AU 0.457668 0.3571 Uncertain 11_122830274_T->C 11 122830274 122830274 T C snp 210.77 0/1 99 16 9 7 0.44 UTR3 rs1057704 C11orf63 AU 0.454673 0.3571 Uncertain 11_122928622_A->G 11 122928622 122928622 A G snp 978.77 0/1 99 67 28 39 0.58 exonic rs4802 HSPA8 AU synonymous SNV NM_006597 exon9 c.T1761C p.A587A 0.432308 0.5506 0.331872 0.3257 0.5803 Uncertain 11_122928875_C->T 11 122928875 122928875 C T snp 440.77 0/1 99 25 8 17 0.68 intronic rs4936770 HSPA8 AU NM_006597 exon2 c.518-84C>T 0.432109 0.5516 Uncertain 11_122929624_A->G 11 122929624 122929624 A G snp 1503.77 0/1 99 132 67 65 0.49 intronic rs1461496 HSPA8 AU NM_006597 exon3 c.1097+86A>G 0.697484 0.5605 Uncertain 11_123065683_C->T 11 123065683 123065683 C T snp 2244.77 1/1 99 92 0 92 1.0 UTR5 rs2302605 CLMP AR 0.482228 0.5933 0.431048 0.5551 0.5881 Uncertain 11_123154803_A->T 11 123154803 123154803 A T snp 135.03 1/1 12 4 0 4 1.0 intergenic rs12289514 CLMP AR 0.375599 0.3304 Uncertain 11_123154816_A->T 11 123154816 123154816 A T snp 135.03 1/1 12 4 0 4 1.0 intergenic rs12289554 CLMP AR 0.579073 0.5258 Uncertain 11_123154904_C->T 11 123154904 123154904 C T snp 785.77 1/1 57 27 0 27 1.0 intergenic rs10892994 CLMP AR 0.230831 0.3185 Uncertain 11_123431392_GTGTGTGTGT->- 11 123431392 123431401 GTGTGTGTGT - indel 2640.75 1/1 24 64 2 62 0.97 intronic rs751727480 GRAMD1B AU NM_020716 exon2 c.51218-16682_51218-16673delGTGTGTGTGT 0.0745 0.1316 Uncertain 11_123448893_T->C 11 123448893 123448893 T C snp 40.77 0/1 33 3 1 2 0.67 intronic rs1275056 GRAMD1B AU NM_001286563 exon3 c.52261-224T>C 0.24401 0.2966 Uncertain 11_123454928_C->T 11 123454928 123454928 C T snp 555.77 0/1 99 42 20 22 0.52 intronic rs115099850 GRAMD1B AU NM_020716 exon3 c.58163-91C>T 0.023762 0.0347 Uncertain 11_123455101_-->G 11 123455101 123455101 - G indel 455.06 1/1 11 25 1 24 0.96 intronic rs113013432 GRAMD1B AU NM_020716 exon3 c.58184+61insG 0.585863 0.5843 0.833364 Uncertain 11_123455109_G->A 11 123455109 123455109 G A snp 401.74 0/1 6 15 1 14 0.93 intronic rs115338953 GRAMD1B AU NM_020716 exon3 c.58184+69G>A 0.585863 0.5843 Uncertain 11_123455124_G->A 11 123455124 123455124 G A snp 235.8 1/1 21 9 1 8 0.89 intronic rs116184013 GRAMD1B AU NM_020716 exon3 c.58184+84G>A Uncertain 11_123464637_G->C 11 123464637 123464637 G C snp 601.77 1/1 45 18 0 18 1.0 intronic rs1148101 GRAMD1B AU NM_020716 exon4 c.67933-152G>C 0.988618 1 Uncertain 11_123471338_C->T 11 123471338 123471338 C T snp 752.77 0/1 99 61 29 32 0.52 intronic rs78208824 GRAMD1B AU NM_020716 exon7 c.74400+82C>T 0.0327476 0.0347 Uncertain 11_123477240_T->C 11 123477240 123477240 T C snp 174.9 1/1 15 5 0 5 1.0 intronic rs1148090 GRAMD1B AU NM_020716 exon10 c.80460-76T>C 0.929712 1 Uncertain 11_123479150_G->A 11 123479150 123479150 G A snp 890.77 0/1 99 61 27 34 0.56 intronic rs1148088 GRAMD1B AU NM_020716 exon11 c.82510-216G>A 0.375799 0.2331 Uncertain 11_123479514_C->T 11 123479514 123479514 C T snp 113.77 0/1 99 9 5 4 0.44 splicing rs2306971 GRAMD1B AU NM_020716 exon11 c.82654+4C>T 0.0353435 0.0377 0.023007 0.0353 0.0390 Pathogenic 11_123483715_T->C 11 123483715 123483715 T C snp 116.77 0/1 99 8 4 4 0.5 intronic rs77620496 GRAMD1B AU NM_020716 exon14 c.86716+143T>C 0.0325479 0.0377 Uncertain 11_123485561_T->C 11 123485561 123485561 T C snp 1617.77 0/1 99 164 87 77 0.47 intronic rs1275061 GRAMD1B AU NM_020716 exon16 c.88687+18T>C 0.373602 0.2321 0.383537 0.4622 0.2573 Uncertain 11_123493061_T->G 11 123493061 123493061 T G snp 197.77 0/1 89 9 3 6 0.67 intronic rs1148117 GRAMD1B AU NM_020716 exon20 c.96357-152T>G 0.142372 0.0962 Uncertain 11_123504673_C->G 11 123504673 123504673 C G snp 516.77 1/1 39 14 0 14 1.0 intronic rs1148111 SCN3B AD 0.751997 0.7232 Uncertain 11_123504959_C->G 11 123504959 123504959 C G snp 947.77 1/1 69 28 0 28 1.0 intronic rs1148110 SCN3B AD NM_018400 exon2 c.64+45C>G 0.750599 0.7222 0.668974 0.6276 0.7535 Uncertain 11_123508842_A->G 11 123508842 123508842 A G snp 2063.77 0/1 99 144 58 86 0.6 intronic rs7112258 SCN3B AD NM_018400 exon3 c.4043-51A>G 0.0958466 0.0228 0.067016 Uncertain 11_123513209_C->A 11 123513209 123513209 C A snp 2622.77 0/1 99 194 86 108 0.56 exonic rs148484744 SCN3B AD synonymous SNV NM_018400 exon3 c.G390T p.A130A 0.000798722 0.0014 0.0009 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000127949.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 11_123524411_G->A 11 123524411 123524411 G A snp 1026.77 0/1 99 94 47 47 0.5 intronic rs3851102 SCN3B AD NM_018400 exon6 c.19604-43G>A 0.142173 0.127 0.137287 0.1456 0.1663 Uncertain 11_123598941_T->C 11 123598941 123598941 T C snp 2819.77 1/1 99 109 0 109 1.0 exonic rs2282644 ZNF202 AU synonymous SNV NM_003455 exon7 c.A732G p.V244V 0.229233 0.3552 0.205738 0.2613 0.3610 Uncertain 11_123676231_G->T 11 123676231 123676231 G T snp 1853.77 0/1 99 150 74 76 0.51 exonic rs4936845 OR6M1 AU nonsynonymous SNV NM_001005325 exon1 c.C827A p.T276K 0.243411 0.2946 0.239040 0.2770 0.3165 0 D 0.0 P -1.097 T 0.741 T 0.735 P Pathogenic 11_123753937_A->G 11 123753937 123753937 A G snp 936.77 0/1 99 102 61 41 0.4 exonic rs1939927 TMEM225 AU nonsynonymous SNV NM_001013743 exon4 c.T586C p.C196R 0.915335 0.8353 0.909706 0.8951 0.8318 0.52 T 0.0 P -0.986 T 0.0 T 0.0 T Pathogenic 11_123754844_T->C 11 123754844 123754844 T C snp 2860.77 1/1 99 106 0 106 1.0 exonic rs10893099 TMEM225 AU nonsynonymous SNV NM_001013743 exon3 c.A401G p.N134S 1 1 0.999385 0.9996 1 1 T 0.0 P -0.977 T 0.0 T 0.0 T Pathogenic 11_123777049_G->T 11 123777049 123777049 G T snp 529.77 0/1 99 32 15 17 0.53 upstream rs10750249 OR8D4 AU 0.722045 0.7262 Uncertain 11_123777497_G->A 11 123777497 123777497 G A snp 2405.77 0/1 99 157 70 87 0.55 exonic rs10750250 OR8D4 AU nonsynonymous SNV NM_001005197 exon1 c.G359A p.C120Y 0.807708 0.7688 0.819335 0.8015 0.7986 1 T 0.000 P -1.013 T 0.0 T 0.0 T Pathogenic 11_123777536_G->A 11 123777536 123777536 G A snp 2166.77 0/1 99 142 54 88 0.62 exonic rs7926767 OR8D4 AU nonsynonymous SNV NM_001005197 exon1 c.G398A p.R133K 0.6873 0.7262 0.675742 0.6986 0.7437 0.23 T 0.0 P -1.022 T 0.0 T 0.0 T Pathogenic 11_123777986_T->C 11 123777986 123777986 T C snp 1886.77 0/1 99 140 65 75 0.54 exonic rs7942047 OR8D4 AU nonsynonymous SNV NM_001005197 exon1 c.T848C p.L283P 0.807907 0.7688 0.819182 0.8015 0.7983 1 T 0.969 P -0.967 T 0.0 T 0.0 T Pathogenic 11_123778031_G->A 11 123778031 123778031 G A snp 886.77 0/1 99 61 28 33 0.54 exonic rs7927385 OR8D4 AU nonsynonymous SNV NM_001005197 exon1 c.G893A p.R298K 0.6877 0.7262 0.675050 0.7011 0.7425 1 T 0.0 P -0.940 T 0.0 T 0.0 T Pathogenic 11_123811344_C->T 11 123811344 123811344 C T snp 223.77 0/1 99 13 6 7 0.54 downstream rs11219362 OR4D5 AU 0.197684 0.246 Uncertain 11_123847473_A->G 11 123847473 123847473 A G snp 1438.77 0/1 99 99 41 58 0.59 exonic rs55944888 OR10S1 AU nonsynonymous SNV NM_001004474 exon1 c.T926C p.V309A 0.115216 0.1081 0.137363 0.1564 0.1115 0 D 0.0 P -1.078 T 0.044 T 0.014 T Pathogenic 11_123848121_T->C 11 123848121 123848121 T C snp 1149.77 0/1 99 130 79 51 0.39 exonic rs17686210 OR10S1 AU nonsynonymous SNV NM_001004474 exon1 c.A278G p.K93R 0.180112 0.1171 0.227350 0.2336 0.1198 0.1 T 0.003 P -0.879 T 0.988 D 0.676 D Pathogenic 11_123848212_C->T 11 123848212 123848212 C T snp 1422.77 0/1 99 137 79 58 0.42 exonic rs17759513 OR10S1 AU nonsynonymous SNV NM_001004474 exon1 c.G187A p.G63S 0.173123 0.1171 0.221427 0.2320 0.1198 0.4 T 0.000 P -0.950 T 0.01 T 0.003 T Pathogenic 11_123848516_C->A 11 123848516 123848516 C A snp 1828.77 0/1 99 125 55 70 0.56 upstream rs35674999 OR10S1 AU 0.116813 0.1071 Uncertain 11_123848598_A->G 11 123848598 123848598 A G snp 34.77 0/1 63 8 6 2 0.25 upstream rs7127903 OR10S1 AU 0.79972 0.7758 Uncertain 11_123886155_A->G 11 123886155 123886155 A G snp 260.77 0/1 99 19 10 9 0.47 upstream rs66605425 OR10G4 AU 0.419928 0.3571 Uncertain 11_123886307_C->T 11 123886307 123886307 C T snp 2703.77 0/1 99 241 127 114 0.47 exonic rs79057843 OR10G4 AU nonsynonymous SNV NM_001004462 exon1 c.C26T p.A9V 0.309505 0.2093 0.383864 0.4028 0.1998 0.02 T 0.0 P -0.943 T 0.0 T 0.001 T ID=CM141947;DIS=Altered receptor function;TAG=FP;PUB=24316890 FP Pathogenic 11_123886308_A->G 11 123886308 123886308 A G snp 2729.77 0/1 99 241 126 115 0.48 exonic rs11219407 OR10G4 AU synonymous SNV NM_001004462 exon1 c.A27G p.A9A 0.662939 0.7173 0.684664 0.7262 0.7130 Uncertain 11_123886549_G->A 11 123886549 123886549 G A snp 47.77 0/1 76 161 133 28 0.17 exonic rs200481059 OR10G4 AU nonsynonymous SNV NM_001004462 exon1 c.G268A p.A90T 0.0323482 0.0248 0.0006 0.0012 1 T 1 N -0.978 T 0.0 T 0.002 T Pathogenic 11_123886681_A->G 11 123886681 123886681 A G snp 3067.77 0/1 99 250 122 128 0.51 exonic rs1893766 OR10G4 AU nonsynonymous SNV NM_001004462 exon1 c.A400G p.M134V 0.427165 0.4205 0.3112 0.12 T 0.000 P -1.026 T 0.002 T 0.005 T ID=CM141948;DIS=Altered receptor function;TAG=FP;PUB=24316890 FP Pathogenic 11_123886865_T->A 11 123886865 123886865 T A snp 3237.77 0/1 99 249 120 129 0.52 exonic rs4084209 OR10G4 AU nonsynonymous SNV NM_001004462 exon1 c.T584A p.V195E 0.660543 0.7232 0.695308 0.7319 0.7304 1 T 0.0 P -0.934 T 0.0 T 0.0 T ID=CM141946;DIS=Altered receptor function;TAG=FP;PUB=24316890 FP Pathogenic 11_123886984_A->G 11 123886984 123886984 A G snp 3079.77 0/1 99 250 135 115 0.46 exonic rs4936880 OR10G4 AU nonsynonymous SNV NM_001004462 exon1 c.A703G p.R235G 0.427316 0.3591 0.462538 0.4471 0.3586 0 D 0.092 P -1.162 T 0.88 T 0.843 P ID=CM141949;DIS=Altered receptor function;TAG=FP;PUB=24316890 FP Pathogenic 11_123887164_A->C 11 123887164 123887164 A C snp 2521.77 0/1 99 199 95 104 0.52 exonic rs4936881 OR10G4 AU nonsynonymous SNV NM_001004462 exon1 c.A883C p.K295Q 0.427716 0.3591 0.463533 0.4472 0.3562 0.01 T 0.011 P -0.905 T 0.265 T 0.128 T ID=CM141950;DIS=Altered receptor function;TAG=FP;PUB=24316890 FP Pathogenic 11_123887184_T->G 11 123887184 123887184 T G snp 2196.77 0/1 99 173 82 91 0.53 exonic rs4936882 OR10G4 AU synonymous SNV NM_001004462 exon1 c.T903G p.L301L 0.661741 0.7173 0.698000 0.7344 0.7229 Uncertain 11_123887314_T->A 11 123887314 123887314 T A snp 677.77 1/1 51 19 0 19 1.0 downstream rs517598 OR10G4 AU 0.998802 1 Uncertain 11_123894119_A->G 11 123894119 123894119 A G snp 1821.77 0/1 99 250 158 92 0.37 exonic rs12366219 OR10G9 AU nonsynonymous SNV NM_001001953 exon1 c.A400G p.M134V 0.220647 0.1687 0.293138 0.3266 0.1543 0.13 T 0.000 P -0.926 T 0.0 T 0.003 T Pathogenic 11_123894136_A->G 11 123894136 123894136 A G snp 2402.77 0/1 99 250 146 104 0.42 exonic rs28499345 OR10G9 AU synonymous SNV NM_001001953 exon1 c.A417G p.R139R 0.823283 0.7837 0.8461 0.8011 Uncertain 11_123894370_T->C 11 123894370 123894370 T C snp 3045.77 0/1 99 250 135 115 0.46 exonic rs193022389 OR10G9 AU synonymous SNV NM_001001953 exon1 c.T651C p.Y217Y 0.00359425 0.0169 0.0009 0.0118 Uncertain 11_123909088_C->T 11 123909088 123909088 C T snp 3153.77 0/1 99 250 126 124 0.5 exonic rs201156002 OR10G7 AU synonymous SNV NM_001004463 exon1 c.G621A p.S207S 9.06e-05 0.0002 Uncertain 11_123909627_T->C 11 123909627 123909627 T C snp 1600.77 0/1 99 142 70 72 0.51 exonic rs11219420 OR10G7 AU nonsynonymous SNV NM_001004463 exon1 c.A82G p.I28V 0.319089 0.3254 0.4009 0.3316 0.79 T 0.0 P -0.976 T 0.0 T 0.002 T Pathogenic 11_123909637_G->T 11 123909637 123909637 G T snp 1587.77 0/1 99 155 77 78 0.5 exonic rs4936889 OR10G7 AU synonymous SNV NM_001004463 exon1 c.C72A p.P24P 0.4020 0.2126 Uncertain 11_123909695_G->C 11 123909695 123909695 G C snp 1818.77 0/1 99 169 81 88 0.52 exonic rs3894197 OR10G7 AU nonsynonymous SNV NM_001004463 exon1 c.C14G p.T5S 0.618211 0.6964 0.659101 0.7170 0.7386 0.58 T 0.0 P -1.008 T 0.0 T 0.0 T Pathogenic 11_123994657_T->C 11 123994657 123994657 T C snp 93.28 1/1 9 3 0 3 1.0 intronic rs4144889 VWA5A AU NM_014622 exon9 c.6293+146T>C 0.117612 0.371 Uncertain 11_124006972_G->T 11 124006972 124006972 G T snp 1014.77 0/1 99 77 41 36 0.47 exonic rs2276054 VWA5A AU nonsynonymous SNV NM_014622 exon12 c.G1496T p.S499I 0.122204 0.0585 0.128692 0.1147 0.0491 0.87 T 1.000 P -0.977 T 0.0 T 0.0 T Pathogenic 11_124006993_G->A 11 124006993 124006993 G A snp 680.77 0/1 99 57 31 26 0.46 exonic rs2276053 VWA5A AU nonsynonymous SNV NM_014622 exon12 c.G1517A p.R506K 0.119409 0.0575 0.128308 0.1149 0.0488 0.94 T 0.0 P -0.966 T 0.0 T 0.0 T Pathogenic 11_124015796_C->A 11 124015796 124015796 C A snp 599.77 0/1 99 32 13 19 0.59 intronic rs17690410 VWA5A AU NM_014622 exon17 c.27725-147C>A 0.0826677 0.0575 Uncertain 11_124015994_C->T 11 124015994 124015994 C T snp 5827.77 1/1 99 218 0 218 1.0 exonic rs1056615 VWA5A AU synonymous SNV NM_014622 exon17 c.C2205T p.H735H 0.604633 0.7093 0.586077 0.5467 0.7510 Uncertain 11_124016366_C->G 11 124016366 124016366 C G snp 562.77 ./1 99 16 0 16 1.0 intronic rs2282505 VWA5A AU NM_014622 exon18 c.28354-206C>G 0.11861 0.0575 Uncertain 11_124016366_C->T 11 124016366 124016366 C T snp 562.77 ./1 99 16 0 16 1.0 intronic rs2282505 VWA5A AU NM_014622 exon18 c.28354-206C>T 0.426318 0.6419 Uncertain 11_124016740_A->T 11 124016740 124016740 A T snp 2498.77 1/1 99 88 0 88 1.0 UTR3 rs9326269 VWA5A AU 0.702476 0.7788 Uncertain 11_124029037_G->A 11 124029037 124029037 G A snp 2393.77 1/1 99 79 1 78 0.99 intergenic rs4936895 VWA5A AU 0.696086 0.7431 Uncertain 11_124029075_G->A 11 124029075 124029075 G A snp 3587.77 1/1 99 127 0 127 1.0 intergenic rs4935866 VWA5A AU 0.696086 0.7431 Uncertain 11_124029292_G->A 11 124029292 124029292 G A snp 1866.77 0/1 99 170 85 85 0.5 intergenic rs1893011 VWA5A AU 0.173323 0.1567 0.2586 0.2593 Uncertain 11_124029541_A->G 11 124029541 124029541 A G snp 5278.77 1/1 99 187 1 186 0.99 intergenic rs4936896 VWA5A AU 0.708466 0.7431 0.6639 0.7243 Uncertain 11_124056377_T->C 11 124056377 124056377 T C snp 3360.77 1/1 99 112 0 112 1.0 intergenic rs2512228 VWA5A AU 0.491214 0.5734 0.5197 0.5302 0.14 T 0.0 P -1.055 T Uncertain 11_124056566_G->A 11 124056566 124056566 G A snp 2231.77 0/1 99 185 87 98 0.53 intergenic rs7937809 VWA5A AU 0.330272 0.4177 0.2946 0.3991 0.06 T 0.0 P -0.932 T 0.0 T 0.003 T Uncertain 11_124056581_A->G 11 124056581 124056581 A G snp 1890.77 0/1 99 185 102 83 0.45 intergenic rs2466584 VWA5A AU 0.160942 0.1558 0.2348 0.1584 0.15 T 0.0 P -1.022 T 0.081 T 0.204 T Uncertain 11_124056732_T->G 11 124056732 124056732 T G snp 2681.77 1/1 99 92 0 92 1.0 intergenic rs2512227 VWA5A AU 0.491414 0.5734 0.5224 0.5395 0.92 T 1.000 P Uncertain 11_124056787_G->A 11 124056787 124056787 G A snp 3328.77 1/1 99 112 0 112 1.0 intergenic rs2512226 VWA5A AU 0.491214 0.5734 0.5199 0.5185 0.28 T 0.0 P -0.950 T Uncertain 11_124120302_A->G 11 124120302 124120302 A G snp 80.77 0/1 30 4 1 3 0.75 upstream rs2512239 OR8G1 AU 0.89357 0.8988 Uncertain 11_124121199_G->C 11 124121199 124121199 G C snp 2346.77 0/1 99 207 99 108 0.52 exonic rs4268525 OR8G1 AU unknown 0.444688 0.5833 0.483789 0.4996 0.5858 Uncertain 11_124134686_G->A 11 124134686 124134686 G A snp 40.77 0/1 69 6 4 2 0.33 intronic rs7931968 OR8G1 AU NM_001002905 exon2 c.15266-1002G>A 0.302117 0.4167 0.340827 0.3993 0.4646 Uncertain 11_124134743_G->A 11 124134743 124134743 G A snp 449.77 0/1 99 35 16 19 0.54 exonic rs2466637 OR8G5 AU synonymous SNV NM_001005198 exon1 c.G21A p.G7G 0.438299 0.5823 0.482125 0.5407 0.6063 Uncertain 11_124135009_G->A 11 124135009 124135009 G A snp 1330.77 0/1 99 85 43 42 0.49 exonic rs2512168 OR8G5 AU nonsynonymous SNV NM_001005198 exon1 c.G287A p.C96Y 0.438498 0.5833 0.465170 0.4966 0.5814 Pathogenic 11_124135438_G->A 11 124135438 124135438 G A snp 904.77 0/1 99 77 39 38 0.49 exonic rs2512167 OR8G5 AU nonsynonymous SNV NM_001005198 exon1 c.G716A p.G239E 0.438498 0.5833 0.475190 0.4975 0.5845 Pathogenic 11_124135481_C->T 11 124135481 124135481 C T snp 757.77 0/1 99 39 14 25 0.64 exonic rs2466701 OR8G5 AU synonymous SNV NM_001005198 exon1 c.C759T p.Y253Y 0.438498 0.5833 0.476035 0.4975 0.5845 Uncertain 11_124179656_G->T 11 124179656 124179656 G T snp 156.77 0/1 99 9 4 5 0.56 downstream rs4936917 OR8D1 AU 0.266174 0.4187 Uncertain 11_124179835_C->T 11 124179835 124179835 C T snp 671.77 0/1 99 95 66 29 0.31 exonic rs4936918 OR8D1 AU synonymous SNV NM_001002917 exon1 c.G828A p.V276V 0.28754 0.4167 0.332692 0.3554 0.4338 Uncertain 11_124180082_A->G 11 124180082 124180082 A G snp 824.77 0/1 99 84 51 33 0.39 exonic rs4936919 OR8D1 AU nonsynonymous SNV NM_001002917 exon1 c.T581C p.L194P 0.286542 0.4206 0.326127 0.3452 0.4347 0 D 0.000 P -0.986 T 0.961 D 0.866 D Pathogenic 11_124180282_A->C 11 124180282 124180282 A C snp 1498.77 0/1 99 119 59 60 0.5 exonic rs7107539 OR8D1 AU nonsynonymous SNV NM_001002917 exon1 c.T381G p.C127W 0.267572 0.4177 0.307692 0.3387 0.4332 0.01 T 0.379 P -0.998 T 1.0 D 1.0 D Pathogenic 11_124189306_G->A 11 124189306 124189306 G A snp 3042.77 0/1 99 222 101 121 0.55 exonic rs2466620 OR8D2 AU nonsynonymous SNV NM_001002918 exon1 c.C788T p.P263L 0.277556 0.1895 0.241615 0.2086 0.1897 0.02 T 0.0 P -1.267 T 0.698 T 0.419 P Pathogenic 11_124189729_C->T 11 124189729 124189729 C T snp 1524.77 0/1 99 133 68 65 0.49 exonic rs2512219 OR8D2 AU nonsynonymous SNV NM_001002918 exon1 c.G365A p.R122H 0.277556 0.1895 0.241385 0.2068 0.1886 0 D 0.695 P -1.006 T 0.001 T 0.001 T Pathogenic 11_124190137_A->G 11 124190137 124190137 A G snp 620.77 0/1 99 36 15 21 0.58 upstream rs2466621 OR8D2 AU 0.278155 0.1905 0.234546 0.2006 0.1928 Uncertain 11_124253140_T->C 11 124253140 124253140 T C snp 1415.77 0/1 99 250 159 91 0.36 exonic rs61911135 OR8B2 AU nonsynonymous SNV NM_001005468 exon1 c.A100G p.I34V 0.00299521 0.005 0.0006 0.0032 0.09 T 1 N -0.936 T 0.0 T 0.001 T Pathogenic 11_124253181_T->C 11 124253181 124253181 T C snp 1542.77 0/1 99 243 144 99 0.41 exonic rs28373946 OR8B2 AU nonsynonymous SNV NM_001005468 exon1 c.A59G p.H20R 0.5399 0.5347 0.5 T 0.0 P -1.024 T 0.0 T 0.0 T Pathogenic 11_124266912_A->G 11 124266912 124266912 A G snp 7251.77 1/1 99 249 1 248 1.0 exonic rs28398895 OR8B3 AU synonymous SNV NM_001005467 exon1 c.T336C p.C112C 0.873403 0.8641 0.8222 0.8589 Uncertain 11_124267108_A->G 11 124267108 124267108 A G snp 610.77 0/1 99 177 145 32 0.18 exonic rs201710114 OR8B3 AU nonsynonymous SNV NM_001005467 exon1 c.T140C p.I47T 0.0020 0.0029 1 T 1 N -0.991 T 0.0 T 0.001 T Pathogenic 11_124267177_T->C 11 124267177 124267177 T C snp 2326.77 1/1 99 100 0 100 1.0 exonic rs507360 OR8B3 AU nonsynonymous SNV NM_001005467 exon1 c.A71G p.Q24R 0.856829 0.8581 0.756956 0.7869 0.8222 0.06 T 0.001 P -1.125 T 0.338 T 0.167 T Pathogenic 11_124267189_T->C 11 124267189 124267189 T C snp 1888.77 1/1 99 88 2 86 0.98 exonic rs507335 OR8B3 AU nonsynonymous SNV NM_001005467 exon1 c.A59G p.H20R 0.858826 0.8571 0.7865 0.8167 0.51 T 0.0 P -1.054 T 0.0 T 0.0 T Pathogenic 11_124293767_G->A 11 124293767 124293767 G A snp 595.77 1/1 45 18 0 18 1.0 downstream rs2188707 OR8B4 AU 0.629593 0.8115 Uncertain 11_124294236_A->G 11 124294236 124294236 A G snp 1206.77 0/1 99 91 46 45 0.49 exonic rs4057749 OR8B4 AU nonsynonymous SNV NM_001005196 exon1 c.T532C p.C178R 0.28155 0.2163 0.283077 0.2378 0.2199 0.01 T 1.000 P -0.966 T 1.0 D 0.995 D Pathogenic 11_124294349_C->A 11 124294349 124294349 C A snp 1572.77 0/1 99 135 69 66 0.49 exonic rs7116575 OR8B4 AU nonsynonymous SNV NM_001005196 exon1 c.G419T p.C140F 0.160743 0.1984 0.146615 0.1185 0.2067 0.01 T 1.000 P -0.903 T 0.529 P 0.443 P Pathogenic 11_124294377_A->G 11 124294377 124294377 A G snp 1641.77 0/1 99 152 81 71 0.47 exonic rs4057750 OR8B4 AU nonsynonymous SNV NM_001005196 exon1 c.T391C p.Y131H 0.259984 0.2163 0.266538 0.2325 0.2197 0.01 T 0.999 P -0.931 T 1.0 D 0.999 D Pathogenic 11_124294703_T->C 11 124294703 124294703 T C snp 960.77 0/1 99 73 32 41 0.56 exonic rs10750270 OR8B4 AU nonsynonymous SNV NM_001005196 exon1 c.A65G p.E22G 0.346446 0.5952 0.298769 0.3273 0.6103 0.19 T 0.0 P -1.112 T 0.006 T 0.012 T Pathogenic 11_124309966_T->C 11 124309966 124309966 T C snp 423.77 0/1 99 43 25 18 0.42 downstream rs10893221 OR8B8 AU 0.271366 0.5317 Uncertain 11_124310622_A->G 11 124310622 124310622 A G snp 2149.77 0/1 99 171 91 80 0.47 exonic rs4296049 OR8B8 AU synonymous SNV NM_012378 exon1 c.T360C p.Y120Y 0.248403 0.5317 0.215308 0.2875 0.5370 Uncertain 11_124439829_C->G 11 124439829 124439829 C G snp 50.74 1/1 6 2 0 2 1.0 upstream rs7927052 OR8A1 AU 0.816494 0.8929 Uncertain 11_124439883_G->A 11 124439883 124439883 G A snp 188.77 0/1 99 10 4 6 0.6 upstream rs1942660 OR8A1 AU 0.232827 0.3274 Uncertain 11_124440362_C->G 11 124440362 124440362 C G snp 1378.77 0/1 99 113 62 51 0.45 exonic rs55861866 OR8A1 AU nonsynonymous SNV NM_001005194 exon1 c.C398G p.T133R 0.272165 0.2659 0.274077 0.3368 0.2764 0 D 0.954 P -0.988 T 0.956 T 0.836 D Pathogenic 11_124440617_C->T 11 124440617 124440617 C T snp 4857.77 1/1 99 165 0 165 1.0 exonic rs12792184 OR8A1 AU nonsynonymous SNV NM_001005194 exon1 c.C653T p.S218L 0.772564 0.8929 0.750692 0.7606 0.8969 0.46 T 0.0 P -0.903 T 0.0 T 0.0 T Pathogenic 11_124509892_T->G 11 124509892 124509892 T G snp 176.9 1/1 15 5 0 5 1.0 intronic rs79917537 SIAE AU NM_170601 exon3 c.2917+129T>G 0.0429313 0.1935 Uncertain 11_124619785_A->C 11 124619785 124619785 A C snp 474.77 0/1 99 27 11 16 0.59 intronic rs200943111 VSIG2 AU NM_014312 exon4 c.2332+23A>C 0.0311502 0.0962 0.0101 0.0965 Uncertain 11_124623492_T->C 11 124623492 124623492 T C snp 2486.77 1/1 99 93 0 93 1.0 UTR3 rs12541 ESAM AU 0.373003 0.2649 0.378328 0.2561 0.2708 Uncertain 11_124642674_T->C 11 124642674 124642674 T C snp 770.77 1/1 57 21 0 21 1.0 intronic rs7129148 MSANTD2 AU NM_001301087 exon2 c.5818-215T>C 0.0587061 0.1052 Uncertain 11_124744033_G->A 11 124744033 124744033 G A snp 2233.77 0/1 99 214 125 89 0.42 exonic rs74787566 ROBO3 AR nonsynonymous SNV NM_022370 exon12 c.G1852A p.G618S 0.00479233 0.0208 0.000313 0.0026 0.0328 0.04 T 1 D 0.280 D 0.999 D 0.982 D Pathogenic 11_124750232_C->T 11 124750232 124750232 C T snp 292.78 1/1 24 9 1 8 0.89 intronic rs4366494 ROBO3 AR NM_022370 exon27 c.14840-81C>T 0.897564 0.996 Uncertain 11_124754768_G->T 11 124754768 124754768 G T snp 1259.77 0/1 99 107 55 52 0.49 UTR3 rs77138593 ROBO4 AU 0.00319489 0.0159 0.000154 0.0010 0.0134 Uncertain 11_124763802_G->A 11 124763802 124763802 G A snp 232.77 0/1 99 23 11 12 0.52 exonic rs74458892 ROBO4 AU synonymous SNV NM_001301088 exon9 c.C1023T p.A341A 0.0061901 0.0288 0.000462 0.0033 0.0384 Uncertain 11_124789755_T->C 11 124789755 124789755 T C snp 540.77 0/1 99 72 44 28 0.39 exonic rs3802904 HEPN1 AU nonsynonymous SNV NM_001037558 exon1 c.T109C p.W37R 0.798922 0.9236 0.754809 0.7371 0.9122 0 D 0.0 P -1.026 T 0.0 T 0.0 T Pathogenic 11_124791119_C->T 11 124791119 124791119 C T snp 387.77 0/1 99 32 14 18 0.56 exonic rs372070386 HEPACAM AR,AD nonsynonymous SNV NM_152722 exon7 c.G1166A p.R389H 0 0 0.06 T 0.994 D -0.838 T 0.995 D 0.63 D Pathogenic 11_124792173_C->G 11 124792173 124792173 C G snp 1237.77 0/1 99 78 29 49 0.63 intronic rs10893304 HEPACAM AR,AD NM_152722 exon2 c.1250-110C>G 0.744808 0.8919 Uncertain 11_124792667_T->C 11 124792667 124792667 T C snp 2304.77 0/1 99 218 119 99 0.45 exonic rs77759828 HEPACAM AR,AD nonsynonymous SNV NM_152722 exon5 c.A851G p.Q284R 0.013778 0.0655 0.000615 0.0069 0.0810 0.86 T 0.607 D -1.055 T 0.076 T 0.016 T Pathogenic 11_124793682_T->C 11 124793682 124793682 T C snp 2342.77 0/1 99 171 68 103 0.6 exonic rs10790715 HEPACAM AR,AD nonsynonymous SNV NM_152722 exon3 c.A652G p.M218V 0.79393 0.9107 0.751923 0.7286 0.8923 1 T 0.000 P -0.977 T 0.0 T 0.001 T Pathogenic 11_124794712_C->T 11 124794712 124794712 C T snp 3389.77 0/1 99 250 121 129 0.52 exonic rs74570840 HEPACAM AR,AD synonymous SNV NM_152722 exon2 c.G339A p.Q113Q 0.0497204 0.0734 0.032231 0.0345 0.0937 ID=COSM328303;OCCURENCE=1(pancreas) Uncertain 11_124824839_T->C 11 124824839 124824839 T C snp 913.77 0/1 99 70 38 32 0.46 intronic rs12272437 CCDC15 AU NM_025004 exon2 c.177+34T>C 0.230032 0.1865 0.198847 0.1821 0.1996 Uncertain 11_124829914_T->A 11 124829914 124829914 T A snp 560.77 0/1 99 49 26 23 0.47 intronic rs7482800 CCDC15 AU NM_025004 exon4 c.5271+15T>A 0.230431 0.1875 0.204380 0.2405 0.2668 Uncertain 11_124856587_T->G 11 124856587 124856587 T G snp 129.77 0/1 99 55 44 11 0.2 intronic rs11219860 CCDC15 AU NM_025004 exon7 c.32009-50T>G 0.319289 0.1915 Uncertain 11_124856596_T->C 11 124856596 124856596 T C snp 75.77 0/1 99 60 50 10 0.17 intronic CCDC15 AU NM_025004 exon7 c.32009-41T>C Uncertain 11_124856610_T->C 11 124856610 124856610 T C snp 230.77 0/1 99 81 65 16 0.2 intronic rs11219863 CCDC15 AU NM_025004 exon7 c.32009-27T>C 0.284345 0.1885 0.1558 0.1225 Uncertain 11_124856951_C->T 11 124856951 124856951 C T snp 830.77 1/1 60 30 0 30 1.0 intronic rs4608089 CCDC15 AU NM_025004 exon8 c.32394-71C>T 0.994609 1 Uncertain 11_124857708_G->A 11 124857708 124857708 G A snp 3135.77 0/1 99 250 127 123 0.49 exonic rs4936966 CCDC15 AU nonsynonymous SNV NM_025004 exon8 c.G1586A p.G529D 0.286941 0.1935 0.272843 0.2289 0.1951 0.9 T 0.0 P -0.950 T 0.0 T 0.0 T Pathogenic 11_124862514_A->G 11 124862514 124862514 A G snp 1490.77 0/1 99 159 93 66 0.42 exonic rs6590113 CCDC15 AU synonymous SNV NM_025004 exon10 c.A2070G p.E690E 0.286941 0.1935 0.270738 0.3118 0.2640 Uncertain 11_124862995_G->C 11 124862995 124862995 G C snp 501.77 0/1 99 43 20 23 0.53 intronic rs11605636 CCDC15 AU NM_025004 exon11 c.38436-69G>C 0.192492 0.4127 Uncertain 11_124863136_C->A 11 124863136 124863136 C A snp 959.77 0/1 99 102 63 39 0.38 exonic rs7951202 CCDC15 AU synonymous SNV NM_025004 exon11 c.C2211A p.P737P 0.286941 0.1935 0.273257 0.2754 0.2316 Uncertain 11_124863249_G->C 11 124863249 124863249 G C snp 285.77 0/1 99 25 13 12 0.48 intronic rs11219864 CCDC15 AU NM_025004 exon11 c.38511+110G>C 0.285743 0.1885 Uncertain 11_124873610_T->C 11 124873610 124873610 T C snp 159.77 0/1 63 7 2 5 0.71 intronic rs12793774 CCDC15 AU NM_025004 exon12 c.49134-152T>C 0.229034 0.1825 Uncertain 11_124873756_T->- 11 124873756 124873756 T - indel 2129.73 0/1 99 113 53 60 0.53 intronic rs72518768 CCDC15 AU NM_025004 exon12 c.49134-6delT 0.229433 0.1825 0.210536 0.2644 0.2891 Uncertain 11_124874914_A->G 11 124874914 124874914 A G snp 284.77 0/1 99 31 17 14 0.45 intronic rs12286897 CCDC15 AU NM_025004 exon13 c.50376-90A>G 0.229433 0.1825 Uncertain 11_124875124_T->C 11 124875124 124875124 T C snp 560.77 0/1 99 51 25 26 0.51 intronic rs35971753 CCDC15 AU NM_025004 exon13 c.50480+16T>C 0.228834 0.1825 0.206391 0.2390 0.2644 Uncertain 11_124908352_T->C 11 124908352 124908352 T C snp 163.77 0/1 66 11 3 8 0.73 exonic rs7107487 CCDC15 AU nonsynonymous SNV NM_025004 exon14 c.T2437C p.C813R 0.229433 0.1825 0.209015 0.2964 0.3494 1 T 0.838 P -0.921 T 0.0 T 0.0 T Pathogenic 11_124910335_G->A 11 124910335 124910335 G A snp 224.77 0/1 99 15 7 8 0.53 intronic rs4491235 CCDC15 AU NM_025004 exon16 c.85857-150G>A 0.376997 0.1935 Uncertain 11_124933351_C->T 11 124933351 124933351 C T snp 1142.77 0/1 99 73 31 42 0.58 intronic rs12791554 SLC37A2 AU NM_001145290 exon1 c.59+29C>T 0.237819 0.1815 0.214110 0.2100 0.2044 Uncertain 11_124946930_G->A 11 124946930 124946930 G A snp 136.03 1/1 12 4 0 4 1.0 intronic rs7103889 SLC37A2 AU NM_001145290 exon3 c.13862-195G>A 0.227236 0.5863 Uncertain 11_124951467_C->G 11 124951467 124951467 C G snp 636.77 1/1 48 17 0 17 1.0 intronic rs4396301 SLC37A2 AU NM_001145290 exon8 c.18091+113C>G 0.609026 0.6597 Uncertain 11_124954652_G->C 11 124954652 124954652 G C snp 3314.77 1/1 99 124 0 124 1.0 intronic rs4936976 SLC37A2 AU NM_001145290 exon13 c.21457-68G>C 0.855831 0.9365 0.795883 Uncertain 11_124956298_C->T 11 124956298 124956298 C T snp 802.77 1/1 60 24 0 24 1.0 intronic rs3808996 SLC37A2 AU NM_198277 exon18 c.22893+142C>T 0.179912 0.4722 Uncertain 11_124957803_C->T 11 124957803 124957803 C T snp 473.77 1/1 36 15 0 15 1.0 intronic rs7929462 SLC37A2 AU NM_001145290 exon18 c.24751-211C>T 0.678714 0.9077 Uncertain 11_124958122_A->G 11 124958122 124958122 A G snp 1010.77 1/1 72 36 0 36 1.0 UTR3 rs3802808 SLC37A2 AU 0.814497 0.7966 Uncertain 11_124967487_T->A 11 124967487 124967487 T A snp 708.77 0/1 99 86 56 30 0.35 UTR3 rs1043821 TMEM218 AU 0.558506 0.6687 0.537923 0.5039 0.7141 Uncertain 11_124967678_A->G 11 124967678 124967678 A G snp 472.77 0/1 99 54 33 21 0.39 intronic rs3737350 TMEM218 AU NM_001258239 exon1 c.135+42A>G 0.556909 0.6687 0.537308 0.5101 0.7126 Uncertain 11_124967774_G->A 11 124967774 124967774 G A snp 200.77 0/1 91 11 3 8 0.73 intronic rs2186888 TMEM218 AU NM_001258239 exon1 c.135+138G>A 0.220647 0.1081 Uncertain 11_124972208_A->G 11 124972208 124972208 A G snp 2095.77 1/1 99 82 2 80 0.98 exonic rs14065 TMEM218 AU nonsynonymous SNV NM_001258239 exon3 c.T35C p.L12S 0.791933 0.7817 0.7797 0.8301 Pathogenic 11_124972318_T->C 11 124972318 124972318 T C snp 496.77 0/1 99 26 9 17 0.65 intronic TMEM218 AU NM_001080546 exon3 c.4746+71T>C Uncertain 11_124972377_C->T 11 124972377 124972377 C T snp 1011.77 1/1 78 33 0 33 1.0 intronic rs2155663 TMEM218 AU NM_001080546 exon3 c.4746+130C>T 0.819289 0.8363 Uncertain 11_124972518_A->G 11 124972518 124972518 A G snp 2365.77 1/1 99 91 0 91 1.0 intronic rs2155664 TMEM218 AU NM_001258239 exon4 c.5031-14A>G 0.793331 0.7946 0.7987 0.7889 Uncertain 11_124972522_T->C 11 124972522 124972522 T C snp 2368.77 1/1 99 92 0 92 1.0 intronic rs2155665 TMEM218 AU NM_001258239 exon4 c.5031-10T>C 0.842053 0.8373 0.8261 0.8242 Uncertain 11_124972691_T->C 11 124972691 124972691 T C snp 303.78 1/1 24 9 0 9 1.0 UTR5 rs2155666 TMEM218 AU 0.841653 0.8363 Uncertain 11_125003004_A->G 11 125003004 125003004 A G snp 2918.77 1/1 99 101 0 101 1.0 intergenic rs653552 TMEM218 AU 0.432907 0.619 0.2570 0.6071 0 D -0.946 T Uncertain 11_125009529_G->A 11 125009529 125009529 G A snp 447.77 0/1 99 38 19 19 0.5 intergenic rs11219919 TMEM218 AU 0.540935 0.3175 Uncertain 11_125255715_A->G 11 125255715 125255715 A G snp 1189.77 0/1 99 98 47 51 0.52 intronic rs3740892 PKNOX2 AU NM_022062 exon6 c.34417+97A>G 0.407348 0.3442 Uncertain 11_125280225_G->A 11 125280225 125280225 G A snp 2162.77 0/1 99 171 84 87 0.51 splicing rs3824918 PKNOX2 AU NM_022062 exon8 c.59020+4G>A 0.0509185 0.2341 0.001783 0.0224 0.2103 Pathogenic 11_125298871_A->G 11 125298871 125298871 A G snp 4311.77 1/1 99 151 0 151 1.0 intronic rs595849 PKNOX2 AU NM_022062 exon11 c.77706-36A>G 0.961661 0.997 0.937370 0.9374 0.9997 Uncertain 11_125299738_C->T 11 125299738 125299738 C T snp 391.77 0/1 99 30 18 12 0.4 intronic rs3740894 PKNOX2 AU NM_022062 exon12 c.78657-120C>T 0.146366 0.2669 Uncertain 11_125323965_C->T 11 125323965 125323965 C T snp 244.77 0/1 99 29 16 13 0.45 intronic rs11220082 FEZ1 AU NM_005103 exon4 c.8035-60C>T 0.48103 0.625 0.484888 Uncertain 11_125326026_C->T 11 125326026 125326026 C T snp 1796.77 0/1 99 121 45 76 0.63 intronic rs2241514 FEZ1 AU NM_005103 exon5 c.10012+24C>T 0.338658 0.3512 0.352385 0.3576 0.3418 Uncertain 11_125442621_A->G 11 125442621 125442621 A G snp 277.77 0/1 99 22 12 10 0.45 intronic rs7101969 EI24 AU NM_004879 exon2 c.42+156A>G 0.208866 0.2897 Uncertain 11_125443429_T->C 11 125443429 125443429 T C snp 1249.77 0/1 99 116 56 60 0.52 intronic rs1284351 EI24 AU NM_004879 exon2 c.42+964T>C 0.340655 0.2976 0.4010 0.3047 Uncertain 11_125443473_A->C 11 125443473 125443473 A C snp 1235.77 0/1 99 119 57 62 0.52 intronic rs1284352 EI24 AU NM_004879 exon2 c.42+1008A>C 0.366813 0.3095 0.3730 0.32 Uncertain 11_125452221_-->T 11 125452221 125452221 - T indel 196.73 0/1 79 27 6 21 0.78 intronic rs71045107 EI24 AU NM_004879 exon10 c.9818-20insT 0.256989 0.2966 0.2459 0.3398 Uncertain 11_125452300_-->C 11 125452300 125452300 - C indel 1918.73 1/1 99 51 0 51 1.0 exonic rs397812741 EI24 AU unknown 0.9998 1 0.999824 0.9999 1 Uncertain 11_125452313_A->G 11 125452313 125452313 A G snp 512.77 0/1 99 52 24 28 0.54 exonic rs4627097 EI24 AU unknown 0.340455 0.2976 0.356985 0.4124 0.3802 0.11 T 0.0 P -0.949 T 0.0 T 0.0 T Uncertain 11_125462162_A->G 11 125462162 125462162 A G snp 3969.77 1/1 99 141 0 141 1.0 upstream rs573173 STT3A AR 0.993211 1 Uncertain 11_125467144_C->A 11 125467144 125467144 C A snp 1502.77 1/1 99 47 0 47 1.0 intronic rs513209 STT3A AR NM_152713 exon3 c.1204+130C>A 0.878794 0.9018 Uncertain 11_125478209_C->T 11 125478209 125478209 C T snp 428.77 0/1 99 29 10 19 0.66 intronic rs6590153 STT3A AR NM_152713 exon9 c.12374+25C>T 0.419329 0.4335 0.398923 0.3705 0.4340 Uncertain 11_125479363_G->A 11 125479363 125479363 G A snp 1439.77 0/1 99 118 56 62 0.53 exonic rs2241502 STT3A AR synonymous SNV NM_001278503 exon11 c.G996A p.S332S 0.419329 0.4335 0.412692 0.3694 0.4319 1.0 P -0.911 T Likely benign 11_125479496_C->T 11 125479496 125479496 C T snp 1598.77 0/1 99 145 72 73 0.5 intronic rs2241501 STT3A AR NM_152713 exon10 c.13674+12C>T 0.308307 0.4028 0.289846 0.2963 0.4118 Uncertain 11_125482345_G->A 11 125482345 125482345 G A snp 345.77 0/1 99 17 6 11 0.65 intronic rs538232 STT3A AR NM_152713 exon12 c.16676-141G>A 0.438698 0.4058 Uncertain 11_125489788_A->C 11 125489788 125489788 A C snp 560.77 0/1 99 74 47 27 0.36 intronic rs525186 STT3A AR NM_152713 exon17 c.24095-117A>C 0.419329 0.4335 Uncertain 11_125497466_G->T 11 125497466 125497466 G T snp 101.77 0/1 99 21 15 6 0.29 intronic rs491528 CHEK1 AU NM_001114122 exon3 c.838-35G>T 0.353035 0.4306 0.320157 0.3481 0.4663 Uncertain 11_125507219_-->TT 11 125507219 125507219 - TT indel 571.73 0/1 99 23 9 14 0.61 intronic rs3731420 CHEK1 AU NM_001114122 exon8 c.10680-124insTT 0.128994 0.1746 Uncertain 11_125514274_T->A 11 125514274 125514274 T A snp 313.77 0/1 80 14 4 10 0.71 intronic rs541725 CHEK1 AU NM_001114122 exon10 c.17500+111T>A 0.35603 0.4306 Uncertain 11_125514573_G->A 11 125514573 125514573 G A snp 595.77 0/1 99 56 32 24 0.43 intronic rs521102 CHEK1 AU NM_001114122 exon11 c.17875+35G>A 0.436102 0.4058 0.436462 0.5059 0.3903 Uncertain 11_125525195_A->G 11 125525195 125525195 A G snp 2476.77 1/1 99 93 0 93 1.0 exonic rs506504 CHEK1 AU nonsynonymous SNV NM_001244846 exon12 c.A1309G p.I437V 0.985823 1 0.973846 0.9726 0.9997 1 T 0.000 P -0.951 T 0.0 T 0.001 T Pathogenic 11_125546479_C->T 11 125546479 125546479 C T snp 221.77 0/1 99 11 4 7 0.64 intronic rs479195 ACRV1 AU NM_020069 exon2 c.3886+106C>T 0.445288 0.4058 Uncertain 11_125616483_G->T 11 125616483 125616483 G T snp 5577.77 1/1 99 194 0 194 1.0 intronic rs498803 PATE1 AU NM_138294 exon2 c.356-72G>T 0.963858 0.999 0.950723 Uncertain 11_125616502_T->A 11 125616502 125616502 T A snp 1928.77 0/1 99 178 95 83 0.47 intronic rs2553829 PATE1 AU NM_138294 exon2 c.356-53T>A 0.821286 0.8393 0.858958 Uncertain 11_125617377_T->- 11 125617377 125617377 T - indel 1786.73 1/1 99 46 0 46 1.0 intronic rs5795459 PATE1 AU NM_138294 exon3 c.1107+71delT 0.967452 0.999 0.951597 Uncertain 11_125617610_A->G 11 125617610 125617610 A G snp 335.77 0/1 99 30 16 14 0.47 exonic rs2114084 PATE1 AU nonsynonymous SNV NM_138294 exon4 c.A140G p.Q47R 0.33746 0.4375 0.318538 0.2967 0.4273 0.25 T 0.043 P -0.934 T 0.998 D 0.929 D Pathogenic 11_125617908_G->A 11 125617908 125617908 G A snp 113.77 0/1 99 7 3 4 0.57 intronic rs2282539 PATE1 AU NM_138294 exon4 c.1518+191G>A 0.463458 0.6091 Uncertain 11_125618394_T->C 11 125618394 125618394 T C snp 111.77 0/1 99 9 5 4 0.44 intronic rs74575061 PATE1 AU NM_138294 exon5 c.2295-100T>C 0.116613 0.1954 Uncertain 11_125618731_T->C 11 125618731 125618731 T C snp 229.77 0/1 99 12 4 8 0.67 UTR3 rs7939499 PATE1 AU 0.301717 0.3968 Uncertain 11_125647121_A->G 11 125647121 125647121 A G snp 99.28 1/1 9 3 0 3 1.0 UTR3 rs548597 PATE2 AU 0.899361 0.997 Uncertain 11_125647712_T->C 11 125647712 125647712 T C snp 2228.77 1/1 99 79 0 79 1.0 intronic rs522690 PATE2 AU NM_212555 exon2 c.492-56T>C 0.887979 0.997 Uncertain 11_125648503_G->A 11 125648503 125648503 G A snp 6282.77 1/1 99 232 0 232 1.0 intronic rs494361 PATE2 AU NM_212555 exon3 c.1194+33G>A 0.889976 0.997 0.861154 0.8905 0.9992 Uncertain 11_125708198_C->T 11 125708198 125708198 C T snp 2865.77 1/1 99 103 0 103 1.0 splicing rs10160391 PATE4 AU NM_001144874 exon3 c.4946-2C>T 0.882188 0.997 0.865309 0.8848 1 Pathogenic 11_125708293_T->G 11 125708293 125708293 T G snp 4523.77 1/1 99 181 3 178 0.98 exonic rs12224646 PATE4 AU nonsynonymous SNV NM_001144874 exon3 c.T268G p.C90G 0.138778 0.1647 0.086290 0.1139 0.1275 0.8 T 0.0 P -0.889 T 0.661 T 0.169 P Pathogenic 11_125763567_C->- 11 125763567 125763567 C - indel 622.73 1/1 57 21 1 20 0.95 UTR3 rs141738016 PUS3 AR 0.558307 0.5734 Uncertain 11_125763581_T->C 11 125763581 125763581 T C snp 733.77 1/1 57 29 0 29 1.0 UTR3 rs80185627 PUS3 AR 0.165335 0.1577 Uncertain 11_125766173_A->C 11 125766173 125766173 A C snp 4476.77 1/1 99 145 1 144 0.99 exonic rs622756 PUS3 AR nonsynonymous SNV NM_031307 exon2 c.T7G p.Y3D 0.802716 0.8542 0.804769 0.8580 0.8925 0.52 T 0.000 P -0.985 T 0.0 T 0.0 T Pathogenic 11_125766204_G->C 11 125766204 125766204 G C snp 2942.77 1/1 99 90 1 89 0.99 UTR5 rs600761 PUS3 AR 0.795327 0.8542 0.795615 0.8541 0.8907 Uncertain 11_125766207_C->T 11 125766207 125766207 C T snp 2934.77 1/1 99 87 0 87 1.0 UTR5 rs471980 PUS3 AR 0.795327 0.8542 0.795769 0.8539 0.8905 Uncertain 11_125766339_A->G 11 125766339 125766339 A G snp 56.74 1/1 6 2 0 2 1.0 intronic rs552750 HYLS1 AR 0.795327 0.8542 Uncertain 11_125776216_-->TT 11 125776216 125776216 - TT indel 336.74 1/1 30 18 0 18 1.0 intronic rs34692223 DDX25 AU NM_013264 exon4 c.1692+112insTT Uncertain 11_125776259_G->C 11 125776259 125776259 G C snp 165.9 1/1 15 5 0 5 1.0 intronic rs681416 DDX25 AU NM_013264 exon4 c.1692+155G>C 0.79353 0.8552 Uncertain 11_125778075_T->- 11 125778075 125778075 T - indel 2721.73 1/1 99 97 0 97 1.0 intronic rs397840191 DDX25 AU NM_013264 exon5 c.3678-15delT 0.719848 0.6637 0.7165 0.6727 Uncertain 11_125778451_T->A 11 125778451 125778451 T A snp 135.03 1/1 12 4 0 4 1.0 intronic rs551365 DDX25 AU NM_013264 exon6 c.3986+53T>A 0.154752 0.1766 Uncertain 11_125778453_G->T 11 125778453 125778453 G T snp 99.28 1/1 9 3 0 3 1.0 intronic rs551373 DDX25 AU NM_013264 exon6 c.3986+55G>T 0.154752 0.1766 Uncertain 11_125780194_C->T 11 125780194 125780194 C T snp 986.77 1/1 72 29 0 29 1.0 intronic rs2272104 DDX25 AU NM_013264 exon7 c.5846-64C>T 0.723842 0.6627 Uncertain 11_125788678_T->C 11 125788678 125788678 T C snp 3793.77 1/1 99 146 0 146 1.0 exonic rs683155 DDX25 AU synonymous SNV NM_013264 exon10 c.T1194C p.C398C 0.689896 0.6627 0.688937 0.7149 0.6720 ID=CM068302;DIS=Impaired spermatogenesis, association with;TAG=DP;PUB=16293649 DP Uncertain 11_125791017_C->T 11 125791017 125791017 C T snp 182.9 1/1 15 6 0 6 1.0 intronic rs635819 DDX25 AU NM_013264 exon11 c.16673-68C>T 0.214856 0.1746 Uncertain 11_125795451_G->A 11 125795451 125795451 G A snp 2129.77 1/1 99 72 0 72 1.0 intergenic rs551167 DDX25 AU 0.125599 0.1806 Uncertain 11_125795625_A->G 11 125795625 125795625 A G snp 90.28 1/1 9 3 0 3 1.0 intergenic rs498025 DDX25 AU 0.762979 0.6667 Uncertain 11_125810664_TT->- 11 125810664 125810665 TT - indel 238.75 1/1 24 19 0 19 1.0 intergenic rs35718120 DDX25 AU 0.120008 0.1736 0.0949 0.16 Uncertain 11_125810714_T->C 11 125810714 125810714 T C snp 84.28 1/1 9 5 0 5 1.0 intergenic rs643038 DDX25 AU 0.118011 0.1716 0.1467 0.2143 0 D -1.048 T Uncertain 11_125810721_G->A 11 125810721 125810721 G A snp 133.03 1/1 12 5 0 5 1.0 intergenic rs643051 DDX25 AU 0.118211 0.1716 0.1355 0.1667 Uncertain 11_125812875_G->A 11 125812875 125812875 G A snp 2748.77 1/1 99 101 1 100 0.99 intergenic rs592545 DDX25 AU 0.113219 0.1538 0.1079 0.1515 0 D -1.029 T Uncertain 11_125813527_G->A 11 125813527 125813527 G A snp 2397.77 1/1 94 91 3 88 0.97 intergenic rs555333 DDX25 AU 0.114217 0.1528 0.1081 0.1515 0 D -1.061 T Uncertain 11_125825708_A->G 11 125825708 125825708 A G snp 1741.77 0/1 99 163 92 71 0.44 intergenic rs627761 DDX25 AU 0.11881 0.1468 0.1388 0.1579 Uncertain 11_125830970_A->T 11 125830970 125830970 A T snp 3716.77 1/1 99 138 0 138 1.0 exonic rs684535 CDON AD,AO nonsynonymous SNV NM_016952 exon20 c.T3662A p.I1221N 0.730000 0.7310 0.9191 1 T 0.000 P -0.950 T 0.0 T 0.0 T Pathogenic 11_125848261_C->T 11 125848261 125848261 C T snp 2464.77 0/1 99 226 114 112 0.5 exonic rs3740904 CDON AD,AO synonymous SNV NM_016952 exon18 c.G3294A p.T1098T 0.399561 0.4127 0.356462 0.4143 0.4040 Uncertain 11_125851272_C->A 11 125851272 125851272 C A snp 907.77 0/1 99 70 32 38 0.54 intronic rs3824922 CDON AD,AO NM_001243597 exon4 c.20388+48C>A 0.067492 0.0962 0.031692 0.0591 0.1078 Uncertain 11_125859407_G->T 11 125859407 125859407 G T snp 80.77 0/1 61 5 2 3 0.6 intronic rs1939986 CDON AD,AO NM_001243597 exon6 c.28695-124G>T 0.323682 0.5248 Uncertain 11_125859783_T->C 11 125859783 125859783 T C snp 183.77 0/1 99 13 7 6 0.46 intronic rs1939985 CDON AD,AO NM_001243597 exon6 c.28818+129T>C 0.325879 0.5248 Uncertain 11_125864973_AAC->- 11 125864973 125864975 AAC - indel 256.73 0/1 99 15 5 10 0.67 intronic rs138741332 CDON AD,AO NM_001243597 exon8 c.34111+26_34111+28delAAC 0.275759 0.4683 0.2746 0.4701 Uncertain 11_125867053_G->T 11 125867053 125867053 G T snp 990.77 1/1 72 31 0 31 1.0 intronic rs11220309 CDON AD,AO NM_001243597 exon9 c.36265-48G>T 0.941494 0.994 0.920846 0.9289 0.9953 Uncertain 11_125871735_C->T 11 125871735 125871735 C T snp 1031.77 0/1 99 106 55 51 0.48 exonic rs516664 CDON AD,AO synonymous SNV NM_016952 exon11 c.G2037A p.A679A 0.302516 0.1617 0.345385 0.3127 0.1924 Uncertain 11_125884904_G->A 11 125884904 125884904 G A snp 49.77 0/1 33 4 1 3 0.75 intronic rs76619396 CDON AD,AO NM_001243597 exon14 c.54299-231G>A 0.11222 0.126 Uncertain 11_125885001_C->A 11 125885001 125885001 C A snp 383.77 0/1 99 41 27 14 0.34 intronic rs74545052 CDON AD,AO NM_001243597 exon14 c.54299-134C>A 0.112021 0.126 0.1992 0.2566 Uncertain 11_125887311_C->T 11 125887311 125887311 C T snp 426.77 0/1 99 47 29 18 0.38 intronic rs7119527 CDON AD,AO NM_001243597 exon15 c.56434+41C>T 0.11222 0.125 0.098538 0.1090 0.1379 Uncertain 11_125888213_C->T 11 125888213 125888213 C T snp 226.77 0/1 75 10 3 7 0.7 intronic rs4426144 CDON AD,AO NM_001243597 exon16 c.57388-11C>T 0.11222 0.126 0.098615 0.1058 0.1318 Uncertain 11_125889464_A->G 11 125889464 125889464 A G snp 2020.77 0/1 99 206 116 90 0.44 intronic rs75029148 CDON AD,AO NM_001243597 exon17 c.58677-49A>G 0.0858626 0.127 0.067462 0.0984 0.1316 Uncertain 11_125889469_G->A 11 125889469 125889469 G A snp 2103.77 0/1 99 206 114 92 0.45 intronic rs11826465 CDON AD,AO NM_001243597 exon17 c.58677-44G>A 0.11222 0.127 0.099000 0.1067 0.1315 Uncertain 11_125889526_C->T 11 125889526 125889526 C T snp 2126.77 0/1 99 231 133 98 0.42 exonic rs3740909 CDON AD,AO nonsynonymous SNV NM_016952 exon4 c.G484A p.E162K 0.112021 0.127 0.098769 0.1057 0.1314 1 T 0.000 P -1.053 T 0.0 T 0.006 T Pathogenic 11_125889673_A->G 11 125889673 125889673 A G snp 185.77 0/1 99 9 3 6 0.67 intronic rs3740910 CDON AD,AO NM_001243597 exon17 c.58824+13A>G 0.112021 0.127 0.097276 0.1081 0.1362 Uncertain 11_126045822_T->C 11 126045822 126045822 T C snp 4057.77 1/1 99 143 0 143 1.0 intergenic rs560813 CDON AD,AO 0.335663 0.4881 0.3873 0.5 0 D -0.926 T Uncertain 11_126045882_C->T 11 126045882 126045882 C T snp 592.77 0/1 99 63 39 24 0.38 intergenic rs75462411 CDON AD,AO 0.067492 0.0258 0.1022 0.0469 Uncertain 11_126074192_A->G 11 126074192 126074192 A G snp 1451.77 0/1 99 121 61 60 0.5 exonic rs2276312 RPUSD4 AU synonymous SNV NM_001144827 exon6 c.T735C p.S245S 0.259185 0.623 0.101308 0.2051 0.6486 Uncertain 11_126075219_C->A 11 126075219 126075219 C A snp 334.78 1/1 27 9 0 9 1.0 intronic rs676982 RPUSD4 AU NM_032795 exon3 c.2050-143C>A 0.786142 0.996 Uncertain 11_126075843_T->C 11 126075843 126075843 T C snp 461.77 1/1 36 12 0 12 1.0 intronic rs535644 RPUSD4 AU NM_032795 exon4 c.2364+167T>C 0.608826 0.8631 Uncertain 11_126080757_T->C 11 126080757 126080757 T C snp 2242.77 1/1 99 86 0 86 1.0 intronic rs608367 RPUSD4 AU NM_032795 exon6 c.7472-27T>C 0.786142 0.996 0.694846 0.7888 0.9988 Uncertain 11_126081336_T->C 11 126081336 126081336 T C snp 3960.77 1/1 99 141 0 141 1.0 intronic rs587891 RPUSD4 AU NM_032795 exon7 c.8032-8T>C 0.885583 0.998 0.799385 0.8237 0.9995 Uncertain 11_126081403_T->C 11 126081403 126081403 T C snp 5752.77 1/1 99 217 0 217 1.0 exonic rs2282580 RPUSD4 AU nonsynonymous SNV NM_001144827 exon1 c.A131G p.Q44R 0.479233 0.8175 0.296308 0.4093 0.8292 0.83 T 1.000 P -1.006 T 0.851 T 0.321 P Pathogenic 11_126134698_T->C 11 126134698 126134698 T C snp 525.77 1/1 39 15 0 15 1.0 intronic rs638766 SRPR AU NM_001177842 exon4 c.1043-155T>C 0.784545 0.996 Uncertain 11_126135973_C->T 11 126135973 126135973 C T snp 2058.77 0/1 99 215 131 84 0.39 exonic rs2962118 SRPR AU synonymous SNV NM_001177842 exon7 c.G852A p.A284A 0.0746805 0.3393 0.003769 0.0316 0.3676 Uncertain 11_126138453_C->T 11 126138453 126138453 C T snp 601.77 0/1 99 36 17 19 0.53 intronic rs12786155 SRPR AU NM_001177842 exon13 c.4772-129C>T 0.0832668 0.0139 Uncertain 11_126139100_T->C 11 126139100 126139100 T C snp 1698.77 1/1 99 55 0 55 1.0 UTR5 rs1786702 FOXRED1 AR,XD,AO 0.786142 0.996 0.694876 0.7891 0.9988 Uncertain 11_126139313_T->A 11 126139313 126139313 T A snp 4274.77 1/1 99 152 0 152 1.0 intronic rs1786703 FOXRED1 AR,XD,AO NM_017547 exon1 c.85+127T>A 0.786142 0.996 0.8056 0.9989 Uncertain 11_126145931_T->C 11 126145931 126145931 T C snp 1111.77 0/1 99 79 35 44 0.56 intronic rs2276025 FOXRED1 AR,XD,AO NM_017547 exon8 c.6852-22T>C 0.316094 0.3333 0.290454 0.3172 0.3163 Uncertain 11_126146244_C->T 11 126146244 126146244 C T snp 1321.77 1/1 96 43 0 43 1.0 intronic rs56321210 FOXRED1 AR,XD,AO NM_017547 exon9 c.7187-44C>T 1 1 0.9981 0.9985 Uncertain 11_126147713_C->G 11 126147713 126147713 C G snp 142.77 0/1 99 21 14 7 0.33 UTR3 rs594318 FOXRED1 AR,XD,AO 0.302117 0.6151 0.3637 0.6835 Uncertain 11_126160687_A->G 11 126160687 126160687 A G snp 1849.77 0/1 99 160 83 77 0.48 intronic rs1893352 TIRAP AU 0.108626 0.0149 ID=CR115845;DIS=Reduced transcriptional activity;TAG=FP;PUB=21399862 FP Uncertain 11_126160877_G->A 11 126160877 126160877 G A snp 1347.77 0/1 99 148 87 61 0.41 intronic rs186799814 TIRAP AU NM_148910 exon4 c.67+21G>A 0.000399361 0.0003 0.0025 Uncertain 11_126161490_T->C 11 126161490 126161490 T C snp 2760.77 1/1 99 101 0 101 1.0 intronic rs614700 TIRAP AU NM_148910 exon4 c.67+634T>C 0.783147 0.9901 Uncertain 11_126162607_G->A 11 126162607 126162607 G A snp 1757.77 0/1 99 171 93 78 0.46 exonic rs3802814 TIRAP AU synonymous SNV NM_148910 exon5 c.G303A p.Q101Q 0.0820687 0.0139 0.108247 0.1186 0.0131 Uncertain 11_126162843_C->T 11 126162843 126162843 C T snp 3026.77 0/1 99 250 124 126 0.5 exonic rs8177374 TIRAP AU nonsynonymous SNV NM_148910 exon5 c.C539T p.S180L 0.0858626 0.0139 0.115095 0.1253 0.0129 0.0 P -0.903 T 0.664 T 0.065 P CLINSIG=other|other|other|other;CLNDBN=Invasive_pneumococcal_disease\x2c_protection_against|Malaria\x2c_resistance_to|Mycobacterium_tuberculosis\x2c_protection_against|Bacteremia\x2c_resistance_to;CLNREVSTAT=no_assertion_criteria_provided|no_assertion_criteria_provided|no_assertion_criteria_provided|no_assertion_criteria_provided;CLNACC=RCV000004722.1|RCV000004723.2|RCV000004724.1|RCV000023527.2;CLNDSDB=MedGen|MedGen|MedGen|MedGen;CLNDSDBID=C1970686|C2720293|C1969665|C3280646 ID=CM072081;DIS=Infectious disease, protection against, association with;TAG=DFP;PUB=17322885 DFP Pathogenic 11_126163124_C->T 11 126163124 126163124 C T snp 2101.77 1/1 99 66 0 66 1.0 downstream rs609634 TIRAP AU 0.790136 0.998 Uncertain 11_126163691_A->G 11 126163691 126163691 A G snp 1714.77 1/1 99 62 0 62 1.0 downstream rs611953 TIRAP AU 0.780751 0.9901 0.7980 0.9903 Uncertain 11_126164349_T->C 11 126164349 126164349 T C snp 2575.77 1/1 99 80 0 80 1.0 intergenic rs625413 TIRAP AU 0.90595 0.998 0.8569 1 Uncertain 11_126174164_C->T 11 126174164 126174164 C T snp 1689.77 0/1 99 114 49 65 0.57 exonic rs695029 DCPS AR synonymous SNV NM_014026 exon1 c.C189T p.F63F 0.305711 0.624 0.168411 0.2702 0.6416 Uncertain 11_126176376_A->T 11 126176376 126176376 A T snp 54.74 1/1 6 2 0 2 1.0 intronic rs648710 DCPS AR NM_014026 exon2 c.2489-88A>T 0.763578 0.9901 Uncertain 11_126176578_G->A 11 126176578 126176578 G A snp 2248.77 1/1 99 84 0 84 1.0 exonic rs637462 DCPS AR synonymous SNV NM_014026 exon2 c.G315A p.Q105Q 0.932907 1 0.864056 0.8591 0.9998 Uncertain 11_126213395_T->C 11 126213395 126213395 T C snp 5298.77 1/1 99 182 2 180 0.99 ncRNA_intronic rs240536 ST3GAL4-AS1 AU 0.596446 0.6786 Uncertain 11_126228403_G->C 11 126228403 126228403 G C snp 1782.77 1/1 99 55 0 55 1.0 intronic rs2269395 ST3GAL4 AU 0.157149 0.5585 0.0231 0.5214 Uncertain 11_126275960_T->C 11 126275960 126275960 T C snp 2640.77 1/1 99 92 0 92 1.0 intronic rs10893506 ST3GAL4 AU 0.441494 0.6677 0.4106 0.6775 Uncertain 11_126277216_C->T 11 126277216 126277216 C T snp 4349.77 1/1 99 162 0 162 1.0 exonic rs2230278 ST3GAL4 AU synonymous SNV NM_001254759 exon3 c.C249T p.Y83Y 0.346246 0.5099 0.319357 0.3162 0.5078 Uncertain 11_126278075_C->T 11 126278075 126278075 C T snp 7854.77 1/1 99 250 0 250 1.0 exonic rs2230279 ST3GAL4 AU synonymous SNV NM_001254759 exon5 c.C420T p.Y140Y 0.344848 0.5079 0.317587 0.3139 0.5048 Uncertain 11_126278522_C->T 11 126278522 126278522 C T snp 50.74 1/1 6 2 0 2 1.0 intronic rs4935965 ST3GAL4 AU NM_001254759 exon6 c.2037+131C>T 0.336861 0.5079 Uncertain 11_126279365_A->T 11 126279365 126279365 A T snp 2088.77 1/1 99 68 0 68 1.0 intronic rs1316361 ST3GAL4 AU NM_001254759 exon7 c.2952+59A>T 0.334864 0.5099 Uncertain 11_126283785_C->T 11 126283785 126283785 C T snp 1946.77 1/1 99 67 0 67 1.0 intronic rs2236653 ST3GAL4 AU NM_001254759 exon9 c.7501-70C>T 0.499002 0.6627 Uncertain 11_126294817_G->A 11 126294817 126294817 G A snp 5665.77 1/1 99 202 0 202 1.0 exonic rs948052 KIRREL3 AU synonymous SNV NM_032531 exon17 c.C1995T p.G665G 0.703674 0.9067 0.664833 0.6713 0.9021 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000117432.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 11_126301449_T->C 11 126301449 126301449 T C snp 1972.77 1/1 99 60 0 60 1.0 intronic rs3802816 KIRREL3 AU NM_001161707 exon1 c.215+28T>C 0.44369 0.7857 0.286722 0.3997 0.8238 Uncertain 11_126301481_T->A 11 126301481 126301481 T A snp 1072.77 1/1 81 28 0 28 1.0 intronic rs3802817 KIRREL3 AU NM_001161707 exon1 c.215+60T>A 0.770567 0.9454 Uncertain 11_126305279_C->G 11 126305279 126305279 C G snp 2574.77 1/1 99 93 1 92 0.99 intronic rs4937132 KIRREL3 AU NM_001161707 exon2 c.3992+81C>G 0.76238 0.9435 0.696890 Uncertain 11_126310082_A->T 11 126310082 126310082 A T snp 908.77 1/1 69 25 0 25 1.0 intronic rs878830 KIRREL3 AU NM_001161707 exon4 c.9137-261A>T 0.541933 0.2669 0.5866 0.3387 Uncertain 11_126310156_G->A 11 126310156 126310156 G A snp 2762.77 1/1 99 83 0 83 1.0 intronic rs3740918 KIRREL3 AU NM_001161707 exon4 c.9137-187G>A 0.266174 0.1359 0.2334 0.1386 Uncertain 11_126310299_T->C 11 126310299 126310299 T C snp 3131.77 0/1 99 250 126 124 0.5 intronic rs3212313 KIRREL3 AU NM_001161707 exon4 c.9137-44T>C 0.356629 0.3839 0.244600 0.3071 0.3448 Uncertain 11_126315024_T->C 11 126315024 126315024 T C snp 4543.77 1/1 99 166 0 166 1.0 intronic rs3802819 KIRREL3 AU NM_001161707 exon5 c.13794+24T>C 0.642772 0.5605 0.771958 0.7340 0.5507 Uncertain 11_126316610_C->T 11 126316610 126316610 C T snp 372.77 0/1 99 27 13 14 0.52 intronic rs1574534 KIRREL3 AU NM_001161707 exon6 c.15447-43C>T 0.418331 0.1429 0.604556 0.5671 0.1559 Uncertain 11_126326568_T->C 11 126326568 126326568 T C snp 56.74 1/1 6 2 0 2 1.0 intronic rs3809005 KIRREL3 AU NM_001161707 exon8 c.25143+219T>C 0.850439 0.8998 Uncertain 11_126343135_A->C 11 126343135 126343135 A C snp 65.77 0/1 94 13 10 3 0.23 intronic rs12786235 KIRREL3 AU NM_001161707 exon10 c.41997-68A>C 0.347843 0.2371 Uncertain 11_126391297_T->G 11 126391297 126391297 T G snp 471.77 0/1 99 109 84 25 0.23 exonic rs12269776 KIRREL3 AU synonymous SNV NM_032531 exon4 c.A346C p.R116R 0.22484 0.0446 0.279946 0.2704 0.1309 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000117434.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 11_126391409_A->G 11 126391409 126391409 A G snp 452.77 0/1 99 58 38 20 0.34 intronic rs4606486 KIRREL3 AU NM_001161707 exon11 c.90153+50A>G 0.220248 0.0446 0.281029 0.2195 0.0714 Uncertain 11_126391451_C->- 11 126391451 126391451 C - indel 427.73 0/1 99 29 16 13 0.45 intronic rs3839943 KIRREL3 AU NM_001161707 exon11 c.90153+92delC 0.22484 0.0446 Uncertain 11_126396674_G->A 11 126396674 126396674 G A snp 757.77 0/1 99 65 35 30 0.46 intronic rs674537 KIRREL3 AU NM_001161707 exon12 c.95376+92G>A 0.631789 0.9504 Uncertain 11_126526181_A->G 11 126526181 126526181 A G snp 781.77 1/1 57 27 0 27 1.0 ncRNA_intronic rs523249 LOC101929427 AU 0.834065 0.9871 Uncertain 11_126858484_T->C 11 126858484 126858484 T C snp 49.77 0/1 75 7 3 4 0.57 intronic rs558276 KIRREL3 AU NM_001161707 exon14 c.569144-11866T>C 0.428714 0.5228 0.3973 0.4839 Uncertain 11_126865035_C->T 11 126865035 126865035 C T snp 390.77 0/1 99 39 23 16 0.41 intronic rs7926177 KIRREL3 AU NM_001161707 exon14 c.569144-5315C>T 0.189097 0.4097 0.0654 0.5530 Uncertain 11_126870418_C->T 11 126870418 126870418 C T snp 1012.77 0/1 99 101 55 46 0.46 UTR5 rs3802824 KIRREL3 AU 0.160743 0.4196 0.064471 0.0989 0.4690 Uncertain 11_126873592_C->T 11 126873592 126873592 C T snp 2883.77 0/1 99 248 124 124 0.5 ncRNA_exonic rs494442 KIRREL3-AS3 AU 0.535543 0.5724 Uncertain 11_126873721_-->C 11 126873721 126873721 - C indel 3306.73 1/1 99 98 0 98 1.0 ncRNA_exonic rs11377295 KIRREL3-AS3 AU Uncertain 11_128333503_T->C 11 128333503 128333503 T C snp 4786.77 1/1 99 178 1 177 0.99 exonic rs2230004 ETS1 AU synonymous SNV NM_001143820 exon9 c.A1143G p.L381L 0.479633 0.5962 0.471222 0.4668 0.5728 Uncertain 11_128638217_G->- 11 128638217 128638217 G - indel 4085.73 1/1 99 127 0 127 1.0 intronic rs35044982 FLI1 AU NM_002017 exon3 c.74014+50delG 0.774161 0.6329 0.7993 0.6344 Uncertain 11_128652012_G->T 11 128652012 128652012 G T snp 3628.77 1/1 99 121 0 121 1.0 intronic rs639336 FLI1 AU NM_002017 exon5 c.87765+94G>T 0.998802 1 Uncertain 11_128652053_-->G 11 128652053 128652053 - G indel 2642.73 1/1 99 59 0 59 1.0 intronic rs3216814 FLI1 AU NM_002017 exon5 c.87765+135insG 0.651158 0.6022 Uncertain 11_128709940_T->C 11 128709940 128709940 T C snp 2965.77 0/1 99 249 138 111 0.45 exonic rs41302407 KCNJ1 AR nonsynonymous SNV NM_000220 exon2 c.A256G p.T86A 0.0167732 0.0149 0.000769 0.0169 0.0114 0.63 T 0.248 P -0.709 T 0.001 T 0.003 T Pathogenic 11_128781339_T->C 11 128781339 128781339 T C snp 3554.77 0/1 99 250 114 136 0.54 exonic rs6590357 KCNJ5 AD synonymous SNV NM_000890 exon2 c.T171C p.S57S 0.869808 0.877 0.848261 0.8436 0.8790 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000126421.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 11_128781978_T->G 11 128781978 128781978 T G snp 2212.77 0/1 99 204 103 101 0.5 exonic rs7118824 KCNJ5 AD synonymous SNV NM_000890 exon2 c.T810G p.L270L 0.866214 0.876 0.842721 0.8414 0.8791 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000126422.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 11_128782002_T->C 11 128782002 128782002 T C snp 1882.77 0/1 99 159 78 81 0.51 exonic rs7118833 KCNJ5 AD synonymous SNV NM_000890 exon2 c.T834C p.H278H 0.867013 0.876 0.843952 0.8416 0.8790 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000126423.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 11_128782012_C->G 11 128782012 128782012 C G snp 4172.77 1/1 99 149 0 149 1.0 exonic rs7102584 KCNJ5 AD nonsynonymous SNV NM_000890 exon2 c.C844G p.Q282E 0.995008 1 0.987073 0.9865 1 1 T 0.003 P -0.907 T 0.0 T 0.0 T CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000126424.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 ID=CM141559;DIS=Altered channel function;TAG=FP;PUB=24420545 FP Pathogenic 11_128786139_-->GATGGATG 11 128786139 128786139 - GATGGATG indel 624.73 0/1 99 12 5 7 0.58 intronic rs377701798 KCNJ5 AD NM_000890 exon3 c.5135-164insGATGGATG Uncertain 11_128786294_G->A 11 128786294 128786294 G A snp 1726.77 0/1 99 105 40 65 0.62 intronic rs4937391 KCNJ5 AD NM_000890 exon3 c.5135-9G>A 0.735823 0.6538 0.747845 0.7346 0.6672 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000126426.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 11_128804789_C->A 11 128804789 128804789 C A snp 308.78 1/1 24 11 0 11 1.0 downstream rs2155548 TP53AIP1 AU 0.886382 0.9415 Uncertain 11_128804955_C->T 11 128804955 128804955 C T snp 814.77 0/1 99 77 37 40 0.52 downstream rs2186833 TP53AIP1 AU 0.210863 0.246 0.3032 0.2653 Uncertain 11_128804960_C->T 11 128804960 128804960 C T snp 721.77 0/1 99 76 40 36 0.47 downstream rs3824901 TP53AIP1 AU 0.0313498 0.0764 0.0231 0.0404 Uncertain 11_128805548_G->A 11 128805548 128805548 G A snp 449.77 0/1 99 44 24 20 0.45 exonic rs11601431 TP53AIP1 AU nonsynonymous SNV NM_022112 exon4 c.C313T p.P105S 0.283946 0.2698 0.234359 0.3252 0.3342 0.62 T 0.0 P -0.994 T 0.458 P 0.42 P Pathogenic 11_128805557_T->C 11 128805557 128805557 T C snp 530.77 0/1 99 46 24 22 0.48 exonic rs56235610 TP53AIP1 AU nonsynonymous SNV NM_022112 exon4 c.A304G p.R102G 0.300719 0.2718 0.242223 0.3260 0.3435 0.51 T 0.0 P -0.952 T 0.023 T 0.038 T Pathogenic 11_128807572_C->T 11 128807572 128807572 C T snp 2907.77 0/1 99 229 107 122 0.53 splicing rs144434585 TP53AIP1 AU NM_001195195 exon3 c.2641C>T 0.000077 4.945e-05 0 0 D 0.993 N -1.006 T 0.011 T 0.002 T Pathogenic 11_128839156_T->C 11 128839156 128839156 T C snp 1711.77 0/1 99 149 83 66 0.44 exonic rs3740829 ARHGAP32 AU synonymous SNV NM_014715 exon13 c.A4863G p.E1621E 0.0754792 0.0506 0.078563 0.0708 0.0503 Uncertain 11_128839526_C->G 11 128839526 128839526 C G snp 2132.77 0/1 99 162 80 82 0.51 exonic rs60847789 ARHGAP32 AU nonsynonymous SNV NM_014715 exon13 c.G4493C p.S1498T 0.0890575 0.0506 0.091182 0.0747 0.0492 0.05 T 0.0 P -1.000 T 0.039 T 0.024 T Pathogenic 11_128842243_A->T 11 128842243 128842243 A T snp 51.77 0/1 80 17 13 4 0.24 intronic rs77561606 ARHGAP32 AU NM_001142685 exon2 c.3546-104A>T 0.247604 0.3006 Uncertain 11_128842251_G->T 11 128842251 128842251 G T snp 86.77 0/1 99 19 14 5 0.26 intronic rs76301868 ARHGAP32 AU NM_001142685 exon2 c.3546-96G>T 0.247604 0.3006 Uncertain 11_128846547_C->A 11 128846547 128846547 C A snp 1486.77 0/1 99 172 103 69 0.4 intronic rs665619 ARHGAP32 AU NM_001142685 exon4 c.7728+18C>A 0.572085 0.5853 0.659280 0.6255 0.5969 Uncertain 11_128846664_T->C 11 128846664 128846664 T C snp 457.77 0/1 99 34 15 19 0.56 intronic rs10893943 ARHGAP32 AU NM_001142685 exon4 c.7728+135T>C 0.247404 0.3006 Uncertain 11_128856615_A->G 11 128856615 128856615 A G snp 238.77 0/1 99 21 10 11 0.52 intronic rs377703970 ARHGAP32 AU NM_001142685 exon10 c.17762+52A>G 0.000138 0.0001 0.0001 Uncertain 11_128868090_G->A 11 128868090 128868090 G A snp 149.77 0/1 99 9 4 5 0.56 intronic rs669678 ARHGAP32 AU NM_001142685 exon12 c.29412-123G>A 0.570887 0.5813 Uncertain 11_128868239_T->C 11 128868239 128868239 T C snp 2504.77 0/1 99 194 88 106 0.55 exonic rs670440 ARHGAP32 AU synonymous SNV NM_014715 exon2 c.A81G p.E27E 0.571086 0.5813 0.660742 0.6292 0.5952 Uncertain 11_128932128_-->G 11 128932128 128932128 - G indel 4039.73 0/1 99 211 106 105 0.5 intronic rs35714464 ARHGAP32 AU NM_001142685 exon14 c.93373-46insG 0.369808 0.3929 0.430280 0.4235 0.4158 Uncertain 11_128935028_T->C 11 128935028 128935028 T C snp 139.03 1/1 12 4 0 4 1.0 intronic rs610106 ARHGAP32 AU NM_001142685 exon16 c.96027+200T>C 0.841254 0.7956 Uncertain 11_129061849_G->T 11 129061849 129061849 G T snp 227.84 0/1 18 9 1 8 0.89 intronic rs2511810 ARHGAP32 AU NM_001142685 exon22 c.223176-128G>T 0.558307 0.5496 Uncertain 11_129312660_C->T 11 129312660 129312660 C T snp 1494.77 1/1 99 54 0 54 1.0 intronic rs3827487 BARX2 AU NM_003658 exon3 c.66799-69C>T 0.618211 0.7411 0.5676 0.7341 0.0 P -0.944 T Uncertain 11_129321026_C->T 11 129321026 129321026 C T snp 3527.77 1/1 99 126 0 126 1.0 splicing rs10791010 BARX2 AU NM_003658 exon4 c.75100-4C>T 0.295327 0.4008 0.200985 0.2395 0.4197 Pathogenic 11_129321066_C->T 11 129321066 129321066 C T snp 4965.77 1/1 99 186 0 186 1.0 exonic rs10791011 BARX2 AU synonymous SNV NM_003658 exon4 c.C609T p.P203P 0.299321 0.4048 0.206833 0.2459 0.4262 Uncertain 11_129321424_-->C 11 129321424 129321424 - C indel 193.8 1/1 18 9 0 9 1.0 UTR3 rs397960167 BARX2 AU 0.421925 0.4345 Uncertain 11_129727148_G->A 11 129727148 129727148 G A snp 510.77 0/1 99 48 25 23 0.48 intronic rs55962420 TMEM45B AU NM_138788 exon5 c.4830-59G>A 0.163339 0.0506 Uncertain 11_129739804_G->C 11 129739804 129739804 G C snp 1651.77 0/1 99 155 85 70 0.45 exonic rs559022552 NFRKB AU nonsynonymous SNV NM_006165 exon22 c.C3191G p.T1064S 0.000399361 0.002 0.0001 0.0021 0.79 T 0.901 N -1.082 T 0.025 T 0.02 T Pathogenic 11_129742837_G->C 11 129742837 129742837 G C snp 1337.77 0/1 99 88 35 53 0.6 exonic rs200873091 NFRKB AU nonsynonymous SNV NM_006165 exon21 c.C2780G p.P927R 0.00219649 0.0109 0.0008 0.0112 0.12 T 1 N -1.011 T 0.974 D 0.693 D Pathogenic 11_129743012_A->G 11 129743012 129743012 A G snp 2187.77 1/1 99 74 0 74 1.0 intronic rs1650826 NFRKB AU NM_006165 exon5 c.8372+21A>G 0.750599 0.6548 0.780117 0.7542 0.6644 Uncertain 11_129743857_G->A 11 129743857 129743857 G A snp 2400.77 0/1 99 204 104 100 0.49 exonic rs557840039 NFRKB AU nonsynonymous SNV NM_006165 exon20 c.C2408T p.P803L 0.000399361 0.002 0.0001 0.0020 0.01 T 1.000 D -0.672 T 0.988 D 0.709 D Pathogenic 11_129743979_G->A 11 129743979 129743979 G A snp 2440.77 0/1 99 208 106 102 0.49 intronic rs372590669 NFRKB AU NM_006165 exon7 c.9388-28G>A 0.000077 7.013e-05 0 Uncertain 11_129744252_T->C 11 129744252 129744252 T C snp 882.77 0/1 99 89 51 38 0.43 intronic rs1030467 NFRKB AU NM_006165 exon7 c.9609+24T>C 0.178914 0.1022 0.200600 0.1559 0.1234 Uncertain 11_129744872_A->G 11 129744872 129744872 A G snp 415.77 0/1 99 27 11 16 0.59 intronic rs1016364 NFRKB AU NM_006165 exon9 c.10192+61A>G 0.239217 0.1022 Uncertain 11_129746555_G->A 11 129746555 129746555 G A snp 213.77 0/1 99 16 8 8 0.5 intronic rs2303665 NFRKB AU NM_006165 exon11 c.11996-60G>A Uncertain 11_129746707_G->T 11 129746707 129746707 G T snp 2300.77 0/1 99 225 112 113 0.5 exonic rs2229650 NFRKB AU synonymous SNV NM_006165 exon15 c.C1731A p.G577G 0.273762 0.3869 0.175131 0.2206 0.3704 Uncertain 11_129752177_A->G 11 129752177 129752177 A G snp 568.77 0/1 99 40 15 25 0.63 intronic rs1783910 NFRKB AU NM_006165 exon17 c.17470+88A>G 0.126198 0.1071 Uncertain 11_129753945_G->A 11 129753945 129753945 G A snp 3337.77 0/1 99 250 108 142 0.57 intronic rs56112470 NFRKB AU NM_006165 exon20 c.19345-19G>A 0.170327 0.0565 0.166436 0.1708 0.0633 Uncertain 11_129754103_-->G 11 129754103 129754103 - G indel 5313.73 1/1 99 128 2 126 0.98 intronic rs3214551 NFRKB AU NM_006165 exon20 c.19419+65insG 0.752796 0.6647 0.780511 Uncertain 11_129754644_A->G 11 129754644 129754644 A G snp 611.77 1/1 45 20 0 20 1.0 exonic rs1131972 NFRKB AU synonymous SNV NM_006165 exon5 c.T813C p.T271T 0.764377 0.6647 0.789012 0.7313 0.6459 Uncertain 11_129754668_T->C 11 129754668 129754668 T C snp 433.77 0/1 99 36 19 17 0.47 exonic rs2303662 NFRKB AU synonymous SNV NM_006165 exon5 c.A789G p.T263T 0.16853 0.0565 0.164820 0.1705 0.0634 Uncertain 11_129754974_G->C 11 129754974 129754974 G C snp 218.84 1/1 18 6 0 6 1.0 intronic rs1469400 NFRKB AU NM_006165 exon21 c.20158+197G>C 0.762979 0.6647 Uncertain 11_129755669_G->A 11 129755669 129755669 G A snp 761.77 1/1 57 19 0 19 1.0 intronic rs1783914 NFRKB AU NM_006165 exon22 c.20885+165G>A 0.999201 1 Uncertain 11_129758327_G->A 11 129758327 129758327 G A snp 1778.77 1/1 99 55 0 55 1.0 intronic rs1650823 NFRKB AU NM_006165 exon24 c.23869-161G>A 0.646965 0.3135 0.7229 0.4038 Uncertain 11_129772172_T->C 11 129772172 129772172 T C snp 310.77 0/1 51 12 2 10 0.83 UTR3 rs1540408 PRDM10 AU 0.153954 0.0298 0.187981 0.1452 0.0288 Uncertain 11_129775599_C->T 11 129775599 129775599 C T snp 646.77 0/1 99 90 56 34 0.38 exonic rs3734076 PRDM10 AU synonymous SNV NM_199439 exon15 c.G2802A p.Q934Q 0.13099 0.4137 0.037319 0.0764 0.4044 Uncertain 11_129780608_C->T 11 129780608 129780608 C T snp 446.77 0/1 99 43 26 17 0.4 intronic rs73016839 PRDM10 AU NM_020228 exon3 c.8344+57C>T 0.0882588 0.0794 Uncertain 11_129784966_G->A 11 129784966 129784966 G A snp 124.77 0/1 99 9 3 6 0.67 intronic rs73016844 PRDM10 AU NM_020228 exon5 c.12706+53G>A 0.0808706 0.0784 Uncertain 11_129793448_C->G 11 129793448 129793448 C G snp 125.78 0/1 27 5 1 4 0.8 intronic rs2241572 PRDM10 AU NM_020228 exon9 c.21091+150C>G 0.10004 0.1161 Uncertain 11_129794950_T->C 11 129794950 129794950 T C snp 2638.77 0/1 99 240 120 120 0.5 exonic rs2241571 PRDM10 AU nonsynonymous SNV NM_199439 exon8 c.A1447G p.T483A 0.423522 0.3988 0.414512 0.4158 0.3862 0.41 T 0.0 P -0.930 T 0.002 T 0.007 T Pathogenic 11_129801043_C->T 11 129801043 129801043 C T snp 1122.77 0/1 99 116 66 50 0.43 exonic rs2277033 PRDM10 AU synonymous SNV NM_199438 exon7 c.G1140A p.Q380Q 0.641973 0.7758 0.562865 0.5190 0.7511 Uncertain 11_129801124_T->C 11 129801124 129801124 T C snp 1347.77 0/1 99 153 92 61 0.4 exonic rs2277032 PRDM10 AU synonymous SNV NM_199438 exon7 c.A1059G p.Q353Q 0.0990415 0.1101 0.065636 0.0872 0.1193 Uncertain 11_129814543_A->G 11 129814543 129814543 A G snp 548.77 0/1 99 30 13 17 0.57 intronic rs73016891 PRDM10 AU NM_020228 exon17 c.42458-122A>G 0.110224 0.1022 Uncertain 11_129816991_A->G 11 129816991 129816991 A G snp 296.77 0/1 99 20 10 10 0.5 intronic rs34161604 PRDM10 AU NM_020228 exon18 c.44832-48A>G 0.28734 0.4861 0.187288 0.1781 0.4753 Uncertain 11_129940724_T->C 11 129940724 129940724 T C snp 1739.77 0/1 99 137 64 73 0.53 intronic rs140624155 APLP2 AU NM_001243299 exon1 c.135+82T>C 0.00299521 0.0149 Uncertain 11_129940806_A->G 11 129940806 129940806 A G snp 432.77 1/1 33 14 0 14 1.0 intronic rs112826009 APLP2 AU NM_001243299 exon1 c.135+164A>G 0.583666 0.4821 Uncertain 11_129998900_T->C 11 129998900 129998900 T C snp 2654.77 1/1 99 91 0 91 1.0 intronic rs651935 APLP2 AU NM_001142277 exon9 c.59070-42T>C 0.997204 1 0.993152 0.9925 0.9995 Uncertain 11_130060217_C->T 11 130060217 130060217 C T snp 212.84 1/1 18 6 0 6 1.0 intronic rs478745 ST14 AR NM_021978 exon7 c.30474-131C>T 0.586262 0.7063 Uncertain 11_130060612_A->G 11 130060612 130060612 A G snp 1853.77 1/1 99 65 0 65 1.0 intronic rs858704 ST14 AR NM_021978 exon7 c.30715+23A>G 0.847644 0.9762 0.750720 0.7983 0.9656 Uncertain 11_130064223_A->G 11 130064223 130064223 A G snp 2506.77 1/1 99 78 0 78 1.0 intronic rs610005 ST14 AR NM_021978 exon8 c.34309+40A>G 0.914137 0.9613 0.885640 0.9067 0.9459 Uncertain 11_130064647_G->A 11 130064647 130064647 G A snp 4987.77 1/1 99 180 0 180 1.0 intronic rs597661 ST14 AR NM_021978 exon9 c.34758+15G>A 0.832867 0.9613 0.770468 0.8433 0.9460 Uncertain 11_130064705_A->G 11 130064705 130064705 A G snp 2550.77 1/1 99 83 0 83 1.0 intronic rs597576 ST14 AR NM_021978 exon9 c.34758+73A>G 0.91873 0.9613 Uncertain 11_130064748_TGTGTGTG->- 11 130064748 130064755 TGTGTGTG - indel 1011.73 1/1 36 31 0 31 1.0 intronic rs58417767 ST14 AR NM_021978 exon9 c.34758+116_34758+123delTGTGTGTG Uncertain 11_130066335_C->T 11 130066335 130066335 C T snp 2863.77 1/1 99 98 2 96 0.98 exonic rs476106 ST14 AR synonymous SNV NM_021978 exon10 c.C1215T p.N405N 0.638978 0.7103 0.568647 0.6905 0.7105 Uncertain 11_130066372_G->A 11 130066372 130066372 G A snp 3204.83 1/1 99 107 0 107 1.0 intronic rs858713 ST14 AR NM_021978 exon10 c.36469+29G>A 0.876797 0.9573 0.833667 0.8725 0.9355 Uncertain 11_130066452_-->C 11 130066452 130066452 - C indel 3836.73 1/1 99 137 0 137 1.0 intronic rs11368852 ST14 AR NM_021978 exon11 c.36590-12insC 0.707069 0.7123 0.7497 0.7058 Uncertain 11_130068554_C->T 11 130068554 130068554 C T snp 1293.77 1/1 93 42 0 42 1.0 intronic rs11221995 ST14 AR NM_021978 exon14 c.38642+38C>T 0.523962 0.746 0.386066 0.5185 0.7297 Uncertain 11_130069704_C->T 11 130069704 130069704 C T snp 603.77 1/1 45 18 0 18 1.0 intronic rs2276117 ST14 AR NM_021978 exon16 c.39971-141C>T 0.584864 0.751 Uncertain 11_130069790_T->G 11 130069790 130069790 T G snp 3562.77 1/1 99 130 0 130 1.0 intronic rs613501 ST14 AR NM_021978 exon16 c.39971-55T>G 0.997204 1 Uncertain 11_130079234_G->C 11 130079234 130079234 G C snp 376.77 0/1 99 17 6 11 0.65 intronic rs519419 ST14 AR NM_021978 exon18 c.49462-102G>C 0.515176 0.502 Uncertain 11_130270855_T->C 11 130270855 130270855 T C snp 1836.77 1/1 99 70 0 70 1.0 intergenic rs59317921 ZBTB44 AU 0.6861 0.9898 Uncertain 11_130271647_A->G 11 130271647 130271647 A G snp 1573.77 1/1 99 49 0 49 1.0 intergenic rs747249 ZBTB44 AU 0.777955 0.9782 0.6993 0.9842 Uncertain 11_130271678_T->G 11 130271678 130271678 T G snp 810.77 0/1 99 87 53 34 0.39 intergenic rs747250 ZBTB44 AU 0.463059 0.6577 0.4603 0.6495 Uncertain 11_130271906_G->A 11 130271906 130271906 G A snp 758.77 0/1 99 44 17 27 0.61 intergenic rs66785877 ZBTB44 AU 0.155551 0.2153 0.1175 0.1768 Uncertain 11_130275346_G->A 11 130275346 130275346 G A snp 113.77 0/1 99 9 4 5 0.56 UTR3 rs2242312 ADAMTS8 AU 0.155152 0.2153 Uncertain 11_130276077_A->G 11 130276077 130276077 A G snp 1373.77 0/1 99 99 44 55 0.56 intronic rs7930976 ADAMTS8 AU NM_007037 exon1 c.571+54A>G 0.156949 0.2192 Uncertain 11_130278924_T->G 11 130278924 130278924 T G snp 307.77 0/1 99 30 19 11 0.37 intronic rs2291344 ADAMTS8 AU NM_007037 exon3 c.3383+89T>G 0.470447 0.6329 Uncertain 11_130281488_G->A 11 130281488 130281488 G A snp 3773.77 1/1 99 128 0 128 1.0 exonic rs2131535 ADAMTS8 AU nonsynonymous SNV NM_007037 exon6 c.C1574T p.A525V 0.74401 0.8304 0.740081 0.7415 0.8013 1 T 0.000 P -0.944 T 0.0 T 0.0 T Pathogenic 11_130284344_T->C 11 130284344 130284344 T C snp 2435.77 1/1 99 84 1 83 0.99 intronic rs7106106 ADAMTS8 AU NM_007037 exon5 c.8973-81T>C 0.919129 0.9772 Uncertain 11_130286766_G->A 11 130286766 130286766 G A snp 7143.77 1/1 99 250 2 248 0.99 intronic rs2291347 ADAMTS8 AU NM_007037 exon7 c.11382-68G>A 0.459465 0.6389 Uncertain 11_130297948_C->G 11 130297948 130297948 C G snp 2264.77 1/1 99 83 0 83 1.0 exonic rs7927048 ADAMTS8 AU nonsynonymous SNV NM_007037 exon1 c.G234C p.E78D 0.469249 0.6319 0.394890 0.5714 0.6949 0.12 T 0.0 P -0.948 T 0.0 T 0.006 T Pathogenic 11_130297957_T->C 11 130297957 130297957 T C snp 2129.77 1/1 99 85 0 85 1.0 exonic rs7942034 ADAMTS8 AU synonymous SNV NM_007037 exon1 c.A225G p.L75L 0.913738 0.9692 0.887302 0.8365 0.9657 Uncertain 11_130298118_GCA->- 11 130298118 130298120 GCA - indel 1087.73 1/1 66 31 0 31 1.0 exonic rs10548872 ADAMTS8 AU nonframeshift deletion NM_007037 exon1 c.62_64del p.21_22del 0.477037 0.6597 0.4216 . Uncertain 11_130298447_C->T 11 130298447 130298447 C T snp 141.03 1/1 12 5 0 5 1.0 UTR5 rs903024 ADAMTS8 AU 0.46226 0.6379 0 . Uncertain 11_130542882_C->T 11 130542882 130542882 C T snp 1749.77 1/1 99 52 0 52 1.0 exonic rs7933829 C11orf44 AU synonymous SNV NM_001271983 exon1 c.C9T p.L3L 0.261581 0.3274 0.259746 0.2485 0.3431 Uncertain 11_130716157_C->T 11 130716157 130716157 C T snp 1347.77 0/1 99 113 55 58 0.51 ncRNA_intronic rs7943757 LOC100507431 AU 0.540535 0.4633 Uncertain 11_130748131_A->G 11 130748131 130748131 A G snp 376.77 0/1 99 21 7 14 0.67 UTR3 rs3190331 SNX19 AU 0.48123 0.4812 Uncertain 11_130749715_A->G 11 130749715 130749715 A G snp 1799.77 0/1 99 122 49 73 0.6 intronic rs2282528 SNX19 AU NM_014758 exon2 c.1290+109A>G 0.811901 0.6944 Uncertain 11_130750642_A->C 11 130750642 130750642 A C snp 725.77 0/1 99 81 48 33 0.41 exonic rs2298566 SNX19 AU nonsynonymous SNV NM_014758 exon9 c.T2633G p.L878R 0.8127 0.6974 0.807094 0.7802 0.7041 1 T 0.0 P -0.999 T 0.0 T 0.0 T ID=CM075018;DIS=Coronary heart disease, association with;TAG=DP;PUB=18073581 DP Pathogenic 11_130763772_C->T 11 130763772 130763772 C T snp 928.77 0/1 99 120 75 45 0.38 intronic rs3794143 SNX19 AU NM_014758 exon4 c.24833-9377C>T 0.603435 0.5843 0.7005 0.6364 Uncertain 11_130773076_G->A 11 130773076 130773076 G A snp 1748.77 0/1 99 145 75 70 0.48 intronic rs3751039 SNX19 AU NM_014758 exon4 c.24833-73G>A 0.531949 0.4812 Uncertain 11_130775688_C->T 11 130775688 130775688 C T snp 983.77 0/1 99 109 67 42 0.39 intronic rs3198419 SNX19 AU NM_014758 exon5 c.27531-159C>T 0.662939 0.6468 0.7155 0.6914 Uncertain 11_130775782_C->T 11 130775782 130775782 C T snp 2241.77 0/1 99 250 152 98 0.39 intronic rs1865298 SNX19 AU NM_014758 exon5 c.27531-65C>T 0.799321 0.6895 0.7759 0.7144 Uncertain 11_130776524_T->C 11 130776524 130776524 T C snp 103.77 0/1 99 16 11 5 0.31 exonic rs4414223 SNX19 AU nonsynonymous SNV NM_014758 exon6 c.A2258G p.N753S 0.663139 0.6468 0.631271 0.6795 0.6476 0.84 T 0.000 P -0.932 T 0.001 T 0.002 T Pathogenic 11_130776613_A->G 11 130776613 130776613 A G snp 481.77 0/1 99 68 47 21 0.31 exonic rs4373936 SNX19 AU synonymous SNV NM_014758 exon6 c.T2169C p.S723S 0.663139 0.6468 0.631425 0.6795 0.6470 Uncertain 11_130776646_T->A 11 130776646 130776646 T A snp 584.77 0/1 99 88 62 26 0.3 intronic rs4586174 SNX19 AU NM_014758 exon6 c.28300+30T>A 0.799321 0.6905 0.784087 0.7687 0.7033 Uncertain 11_130776690_C->T 11 130776690 130776690 C T snp 458.77 0/1 99 83 61 22 0.27 intronic rs6590536 SNX19 AU NM_014758 exon6 c.28300+74C>T 0.663139 0.6468 Uncertain 11_130776701_A->T 11 130776701 130776701 A T snp 451.77 0/1 99 84 62 22 0.26 intronic rs6590537 SNX19 AU NM_014758 exon6 c.28300+85A>T 0.655351 0.6468 Uncertain 11_130780015_C->T 11 130780015 130780015 C T snp 1308.77 0/1 99 76 25 51 0.67 exonic rs1781 SNX19 AU synonymous SNV NM_014758 exon4 c.G1932A p.P644P 0.576877 0.6448 0.546938 0.6553 0.6464 Uncertain 11_130780225_C->A 11 130780225 130780225 C A snp 584.77 1/1 45 17 0 17 1.0 exonic rs681982 SNX19 AU nonsynonymous SNV NM_014758 exon3 c.G1854T p.L618F 1 1 1 T 1.0 P -0.970 T 0.0 T 0.0 T Pathogenic 11_130780270_C->A 11 130780270 130780270 C A snp 54.74 1/1 6 2 0 2 1.0 splicing rs1237478 SNX19 AU NM_014758 exon9 c.31949+5C>A 0.840455 0.8512 0.5316 0.5171 Pathogenic 11_130784754_C->G 11 130784754 130784754 C G snp 1277.77 0/1 99 144 91 53 0.37 exonic rs3751037 SNX19 AU nonsynonymous SNV NM_014758 exon1 c.G1081C p.V361L 0.730431 0.6796 0.711604 0.7443 0.6917 0.46 T 0.0 P -0.996 T 0.0 T 0.0 T Pathogenic 11_130784971_C->G 11 130784971 130784971 C G snp 1693.77 0/1 99 100 45 55 0.55 exonic rs3751036 SNX19 AU synonymous SNV NM_014758 exon1 c.G864C p.P288P 0.796925 0.6806 0.783934 0.7677 0.6945 Uncertain 11_131530083_G->C 11 131530083 131530083 G C snp 1101.77 1/1 81 40 0 40 1.0 intergenic rs2472253 LOC101929653 AU 0.864417 0.8879 Uncertain 11_131531000_T->C 11 131531000 131531000 T C snp 1281.77 1/1 93 39 0 39 1.0 intergenic rs2739287 LOC101929653 AU 0.822883 0.8839 Uncertain 11_131531015_T->G 11 131531015 131531015 T G snp 901.77 1/1 66 29 0 29 1.0 intergenic rs2658857 LOC101929653 AU 0.809704 0.8839 Uncertain 11_131781634_G->A 11 131781634 131781634 G A snp 2512.77 1/1 99 79 0 79 1.0 intronic rs11222836 NTM AU NM_001048209 exon2 c.540841+92G>A 0.361821 0.6766 Uncertain 11_132081873_G->A 11 132081873 132081873 G A snp 307.77 0/1 99 32 18 14 0.44 intronic rs3824870 NTM AU NM_001048209 exon4 c.841214-42G>A 0.318291 0.3631 0.263089 0.2586 0.3641 Uncertain 11_132177563_C->T 11 132177563 132177563 C T snp 1325.77 0/1 99 149 89 60 0.4 intronic rs2305272 NTM AU NM_001048209 exon5 c.936881-19C>T 0.192093 0.37 0.142659 0.1831 0.3425 Uncertain 11_132177633_A->C 11 132177633 132177633 A C snp 4459.77 1/1 99 158 0 158 1.0 exonic rs2305271 NTM AU synonymous SNV NM_001144058 exon4 c.A577C p.R193R 0.880591 0.9266 0.853878 0.8463 0.9255 Uncertain 11_132184339_T->C 11 132184339 132184339 T C snp 152.77 0/1 99 11 5 6 0.55 intronic rs895924 NTM AU NM_001048209 exon7 c.943744-106T>C 0.386981 0.4692 Uncertain 11_132184394_G->C 11 132184394 132184394 G C snp 541.77 0/1 99 36 16 20 0.56 intronic rs730253 NTM AU NM_001048209 exon7 c.943744-51G>C 0.311302 0.2897 0.408805 Uncertain 11_132306153_T->C 11 132306153 132306153 T C snp 2054.77 0/1 99 169 81 88 0.52 intronic rs1940024 OPCML AU NM_002545 exon2 c.16045+22T>C 0.566893 0.4216 0.502924 0.4291 0.4014 Uncertain 11_132306403_G->A 11 132306403 132306403 G A snp 283.77 0/1 99 21 10 11 0.52 intronic rs2298479 OPCML AU NM_002545 exon3 c.16466-149G>A 0.242212 0.2242 Uncertain 11_132526865_A->G 11 132526865 132526865 A G snp 222.84 1/1 18 6 0 6 1.0 intronic rs1784519 OPCML AU NM_002545 exon6 c.236895-116A>G 0.776158 0.6032 Uncertain 11_133328779_-->AT 11 133328779 133328779 - AT indel 257.73 0/1 99 19 12 7 0.37 intergenic rs111943335 OPCML AU 0.240216 0.1498 Uncertain 11_133712348_G->A 11 133712348 133712348 G A snp 2429.77 1/1 99 84 0 84 1.0 intronic rs2257010 SPATA19 AU NM_174927 exon3 c.446-31G>A 0.329073 0.6022 0.290397 0.3743 0.6010 Uncertain 11_133712473_C->T 11 133712473 133712473 C T snp 4996.77 1/1 99 184 0 184 1.0 intronic rs2257004 SPATA19 AU NM_174927 exon3 c.524+16C>T 0.339856 0.6022 0.304324 0.3786 0.6008 Uncertain 11_133712594_C->G 11 133712594 133712594 C G snp 3167.77 1/1 99 108 0 108 1.0 intronic rs2282601 SPATA19 AU NM_174927 exon3 c.524+137C>G 0.339856 0.6022 Uncertain 11_133712682_G->A 11 133712682 133712682 G A snp 384.77 1/1 30 12 0 12 1.0 intronic rs2187449 SPATA19 AU NM_174927 exon3 c.524+225G>A 0.887979 0.9494 Uncertain 11_133714472_C->T 11 133714472 133714472 C T snp 2011.77 0/1 99 214 128 86 0.4 exonic rs80125544 SPATA19 AU nonsynonymous SNV NM_001291992 exon3 c.G199A p.V67I 0.0115815 0.0565 0.0038 0.0514 1 T 1 N -1.048 T 0.0 T 0.0 T Pathogenic 11_133714522_G->A 11 133714522 133714522 G A snp 6678.77 1/1 99 250 0 250 1.0 exonic rs2282602 SPATA19 AU nonsynonymous SNV NM_001291992 exon3 c.C149T p.A50V 0.339457 0.6022 0.304478 0.3825 0.6005 0.07 T 0.975 P -0.879 T 0.999 D 0.994 D Pathogenic 11_133714672_A->G 11 133714672 133714672 A G snp 2275.77 1/1 99 71 0 71 1.0 intronic rs2282604 SPATA19 AU NM_174927 exon5 c.2602+137A>G 0.351438 0.6022 Uncertain 11_133715153_G->C 11 133715153 133715153 G C snp 4210.77 1/1 99 109 0 109 1.0 intronic rs2298738 SPATA19 AU NM_174927 exon6 c.3152+68G>C 0.355232 0.627 Uncertain 11_133788869_A->G 11 133788869 133788869 A G snp 1164.77 1/1 81 53 0 53 1.0 intronic rs10791338 IGSF9B AU NM_001277285 exon3 c.10673-767A>G 0.680112 0.8224 0.655716 Uncertain 11_133789013_-->GG 11 133789013 133789013 - GG indel 180.75 1/1 24 16 0 16 1.0 intronic rs59914981 IGSF9B AU NM_001277285 exon3 c.10673-623insGG 0.0040 0 Uncertain 11_133789024_T->G 11 133789024 133789024 T G snp 77.28 1/1 9 11 4 7 0.64 intronic rs200483863 IGSF9B AU NM_001277285 exon3 c.10673-612T>G 0.0288 0.0476 Uncertain 11_133791354_C->T 11 133791354 133791354 C T snp 383.77 1/1 30 10 0 10 1.0 intronic rs11223621 IGSF9B AU NM_001277285 exon3 c.12329+62C>T 0.366214 0.6121 Uncertain 11_133792021_T->C 11 133792021 133792021 T C snp 4484.77 1/1 99 159 0 159 1.0 intronic rs596430 IGSF9B AU NM_001277285 exon4 c.13108-50T>C 0.780751 0.8651 0.809509 Uncertain 11_133792667_C->T 11 133792667 133792667 C T snp 402.77 0/1 99 32 17 15 0.47 intronic rs148572006 IGSF9B AU NM_001277285 exon5 c.13662+42C>T 0.00519169 0.0248 0.0016 0.0305 Uncertain 11_133794488_T->C 11 133794488 133794488 T C snp 389.77 1/1 30 10 0 10 1.0 intronic rs2062368 IGSF9B AU NM_001277285 exon6 c.15751-226T>C 0.494808 0.6012 Uncertain 11_133794599_T->C 11 133794599 133794599 T C snp 4020.77 1/1 99 142 0 142 1.0 intronic rs329670 IGSF9B AU NM_001277285 exon6 c.15751-115T>C 0.879193 0.9554 Uncertain 11_133794600_G->T 11 133794600 133794600 G T snp 3956.77 1/1 99 143 0 143 1.0 intronic rs3737491 IGSF9B AU NM_001277285 exon6 c.15751-114G>T 0.387979 0.6012 Uncertain 11_133799408_C->T 11 133799408 133799408 C T snp 378.77 1/1 30 11 0 11 1.0 intronic rs10894763 IGSF9B AU NM_001277285 exon9 c.20602-157C>T 0.221645 0.5139 Uncertain 11_133805585_C->T 11 133805585 133805585 C T snp 1015.77 0/1 99 97 54 43 0.44 exonic rs329637 IGSF9B AU synonymous SNV NM_001277285 exon7 c.G894A p.S298S 0.299121 0.3284 0.342418 0.3992 0.3289 Uncertain 11_133814191_A->G 11 133814191 133814191 A G snp 1906.77 0/1 99 163 77 86 0.53 exonic rs595986 IGSF9B AU synonymous SNV NM_001277285 exon3 c.T333C p.Y111Y 0.488019 0.4028 0.597768 0.6232 0.3778 Uncertain 11_133815792_A->G 11 133815792 133815792 A G snp 220.84 1/1 18 6 0 6 1.0 intronic rs11223635 IGSF9B AU NM_001277285 exon19 c.36992-163A>G 0.465455 0.3601 Uncertain 11_133815981_C->G 11 133815981 133815981 C G snp 1954.77 0/1 99 189 104 85 0.45 exonic rs10894768 IGSF9B AU synonymous SNV NM_001277285 exon2 c.G237C p.P79P 0.354633 0.5208 0.288959 0.3897 0.5821 Uncertain 11_133826429_-->G 11 133826429 133826429 - G indel 189.87 1/1 15 5 0 5 1.0 intronic rs35615972 IGSF9B AU NM_001277285 exon20 c.47622-156insG 1 1 Uncertain 11_133940173_G->C 11 133940173 133940173 G C snp 503.77 0/1 99 69 50 19 0.28 intronic rs646763 JAM3 AR NM_032801 exon1 c.76+1119G>C 0.277556 0.3938 Uncertain 11_134010722_A->G 11 134010722 134010722 A G snp 252.77 0/1 99 40 25 15 0.38 intronic rs646998 JAM3 AR NM_032801 exon3 c.71687+57A>G 0.467851 0.4117 Uncertain 11_134014673_-->CTT 11 134014673 134014673 - CTT indel 349.73 0/1 99 21 14 7 0.33 intronic rs3216140 JAM3 AR NM_032801 exon5 c.75708-13insCTT 0.1313 0.2889 Uncertain 11_134018656_T->C 11 134018656 134018656 T C snp 4406.77 1/1 99 162 0 162 1.0 splicing rs610382 JAM3 AR NM_032801 exon8 c.79680-2T>C 0.538139 0.6429 0.458987 0.4013 0.6113 Pathogenic 11_134018745_G->A 11 134018745 134018745 G A snp 379.77 0/1 99 38 24 14 0.37 intronic rs610829 JAM3 AR NM_032801 exon8 c.79735+32G>A 0.15635 0.1835 0.107879 0.1140 0.2009 Uncertain 11_134018851_ACAC->- 11 134018851 134018854 ACAC - indel 1310.73 0/1 99 52 18 34 0.65 intronic rs373298428 JAM3 AR NM_032801 exon8 c.79735+138_79735+141delACAC Uncertain 11_134028447_G->A 11 134028447 134028447 G A snp 761.77 0/1 99 65 35 30 0.46 intronic rs55683807 NCAPD3 AU NM_015261 exon6 c.5552+57G>A 0.103035 0.2688 Uncertain 11_134038538_C->T 11 134038538 134038538 C T snp 1761.77 0/1 99 130 57 73 0.56 intronic rs73731 NCAPD3 AU NM_015261 exon10 c.15659+41C>T 0.33127 0.3829 0.277624 0.2525 0.3571 Uncertain 11_134047243_T->C 11 134047243 134047243 T C snp 1284.77 0/1 99 139 78 61 0.44 exonic rs2276265 NCAPD3 AU synonymous SNV NM_015261 exon23 c.A2892G p.V964V 0.473043 0.4137 0.457218 0.3654 0.4014 Uncertain 11_134054705_-->ACAC 11 134054705 134054705 - ACAC indel 3701.73 ./1 99 86 2 84 0.98 intronic NCAPD3 AU NM_015261 exon17 c.31809+58insACAC Uncertain 11_134054706_ACACACAC->- 11 134054706 134054713 ACACACAC - indel 3701.73 ./1 99 86 2 84 0.98 intronic rs146732097 NCAPD3 AU NM_015261 exon17 c.31809+59_31809+66delACACACAC Uncertain 11_134054715_C->T 11 134054715 134054715 C T snp 538.77 0/1 99 94 66 28 0.3 intronic rs201518163 NCAPD3 AU NM_015261 exon17 c.31809+68C>T Uncertain 11_134054719_C->T 11 134054719 134054719 C T snp 712.77 0/1 99 99 67 32 0.32 intronic rs199658951 NCAPD3 AU NM_015261 exon17 c.31809+72C>T 0.0808706 0.2173 Uncertain 11_134055478_C->A 11 134055478 134055478 C A snp 239.77 0/1 90 11 3 8 0.73 intronic rs10894783 NCAPD3 AU NM_015261 exon19 c.32583+57C>A 0.218051 0.2698 Uncertain 11_134064540_T->C 11 134064540 134064540 T C snp 737.77 0/1 99 79 47 32 0.41 intronic rs1125399 NCAPD3 AU NM_015261 exon22 c.41721-19T>C 0.303714 0.3095 0.265774 0.2445 0.3062 Uncertain 11_134072910_C->T 11 134072910 134072910 C T snp 140.77 0/1 99 15 10 5 0.33 intronic rs2305380 NCAPD3 AU NM_015261 exon23 c.49962+110C>T 0.241214 0.3879 Uncertain 11_134073019_A->T 11 134073019 134073019 A T snp 416.77 0/1 99 29 12 17 0.59 intronic rs2305379 NCAPD3 AU NM_015261 exon24 c.50198-17A>T 0.317093 0.3056 0.297260 0.2756 0.3082 Uncertain 11_134073154_A->G 11 134073154 134073154 A G snp 443.77 0/1 99 36 16 20 0.56 intronic rs2305378 NCAPD3 AU NM_015261 exon24 c.50255+61A>G 0.24361 0.3879 0.178869 Uncertain 11_134073913_C->T 11 134073913 134073913 C T snp 2622.77 0/1 99 237 123 114 0.48 intronic rs896409 NCAPD3 AU NM_015261 exon26 c.51102-27C>T 0.217053 0.2659 0.170976 0.1757 0.2607 Uncertain 11_134074099_T->C 11 134074099 134074099 T C snp 1455.77 0/1 99 144 83 61 0.42 intronic rs10791349 NCAPD3 AU NM_015261 exon26 c.51228+33T>C 0.217652 0.2688 0.171360 0.1760 0.2631 Uncertain 11_134105030_A->G 11 134105030 134105030 A G snp 576.77 0/1 99 40 15 25 0.63 intronic rs1259022 VPS26B AU NM_052875 exon2 c.9931+83A>G 0.752796 0.631 Uncertain 11_134128313_G->T 11 134128313 134128313 G T snp 1305.77 0/1 99 114 56 58 0.51 intronic rs11223738 ACAD8 AU NM_014384 exon4 c.4914-95G>T 0.336262 0.3889 Uncertain 11_134147371_G->A 11 134147371 134147371 G A snp 1041.77 0/1 99 87 45 42 0.48 intronic rs67473835 GLB1L3 AU NM_001080407 exon2 c.711+26G>A 0.258387 0.3919 0.191853 0.2501 0.3753 Uncertain 11_134151039_A->G 11 134151039 134151039 A G snp 137.77 0/1 99 11 6 5 0.45 intronic rs11223743 GLB1L3 AU NM_001080407 exon4 c.4636-231A>G 0.277356 0.3938 Uncertain 11_134151975_G->C 11 134151975 134151975 G C snp 1245.77 0/1 99 98 49 49 0.5 exonic rs472287 GLB1L3 AU nonsynonymous SNV NM_001080407 exon5 c.G488C p.R163P 0.907748 0.8135 0.9353 0.8038 1 T 0.002 P -0.845 T 0.0 T 0.0 T Pathogenic 11_134152030_G->A 11 134152030 134152030 G A snp 1656.77 0/1 99 159 82 77 0.48 intronic rs10791352 GLB1L3 AU NM_001080407 exon5 c.5380+16G>A 0.718251 0.7798 0.733800 0.7733 0.7839 Uncertain 11_134158745_A->G 11 134158745 134158745 A G snp 573.77 0/1 99 67 40 27 0.4 exonic rs3824995 GLB1L3 AU synonymous SNV NM_001080407 exon7 c.A690G p.S230S 0.233626 0.3502 0.179247 0.2166 0.3138 Uncertain 11_134158817_A->C 11 134158817 134158817 A C snp 580.77 0/1 99 71 44 27 0.38 intronic rs10894794 GLB1L3 AU NM_001080407 exon7 c.12150+33A>C 0.233626 0.3502 0.179438 0.2225 0.3254 Uncertain 11_134161999_G->A 11 134161999 134161999 G A snp 1000.77 0/1 99 93 41 52 0.56 intronic rs58651308 GLB1L3 AU NM_001080407 exon8 c.15391-26G>A 0.0199681 0.0962 0.0091 0.1007 Uncertain 11_134177205_G->T 11 134177205 134177205 G T snp 503.77 0/1 99 48 28 20 0.42 intronic rs12272129 GLB1L3 AU NM_001080407 exon10 c.30468+103G>T 0.195487 0.3313 Uncertain 11_134177275_C->T 11 134177275 134177275 C T snp 40.77 0/1 69 6 3 3 0.5 intronic rs2510356 GLB1L3 AU NM_001080407 exon10 c.30468+173C>T 0.680312 0.6409 Uncertain 11_134179397_C->T 11 134179397 134179397 C T snp 144.77 0/1 63 7 2 5 0.71 intronic rs573028 GLB1L3 AU NM_001080407 exon11 c.32885-122C>T 0.739018 0.6429 Uncertain 11_134180695_G->C 11 134180695 134180695 G C snp 579.77 0/1 99 35 17 18 0.51 intronic rs526507 GLB1L3 AU NM_001080407 exon12 c.33911+150G>C 0.874401 0.7758 Uncertain 11_134182135_T->C 11 134182135 134182135 T C snp 290.77 0/1 99 32 20 12 0.38 intronic rs751719 GLB1L3 AU NM_001080407 exon14 c.35608-107T>C 0.883986 0.7778 Uncertain 11_134182375_G->A 11 134182375 134182375 G A snp 1913.77 1/1 99 71 0 71 1.0 exonic rs2509062 GLB1L3 AU nonsynonymous SNV NM_001080407 exon14 c.G1420A p.V474M 0.998403 0.996 0.999764 0.9982 0.9962 0.08 T 0.0 P -0.943 T 0.002 T 0.001 T Pathogenic 11_134182856_A->G 11 134182856 134182856 A G snp 1542.77 1/1 72 60 1 59 0.98 intronic rs1144216 GLB1L3 AU NM_001080407 exon15 c.36147+75A>G 0.72484 0.7609 Uncertain 11_134188851_-->T 11 134188851 134188851 - T indel 158.73 0/1 99 54 15 39 0.72 UTR3 rs397712698 GLB1L3 AU 0.538339 0.5724 0.4843 0.4767 Uncertain 11_134215091_TCTGTGTTCCAGTTCCCATTCTGTAC->- 11 134215091 134215116 TCTGTGTTCCAGTTCCCATTCTGTAC - indel 23142.7 1/1 99 105 0 105 1.0 intronic rs144778132 GLB1L2 AU NM_138342 exon4 c.13068+68_13068+93delTCTGTGTTCCAGTTCCCATTCTGTAC 0.141973 0.2847 Uncertain 11_134217210_C->T 11 134217210 134217210 C T snp 1306.77 0/1 99 123 66 57 0.46 intronic rs10894800 GLB1L2 AU NM_138342 exon5 c.15263-8C>T 0.15595 0.3075 0.080409 0.1038 0.3130 Uncertain 11_134217453_G->A 11 134217453 134217453 G A snp 538.77 1/1 42 17 0 17 1.0 intronic rs67013198 GLB1L2 AU NM_138342 exon5 c.15372+126G>A 0.114018 0.2897 Uncertain 11_134226053_C->A 11 134226053 134226053 C A snp 3342.77 1/1 99 110 0 110 1.0 intronic rs76255106 GLB1L2 AU NM_138342 exon6 c.24239-141C>A 0.131989 0.3095 Uncertain 11_134226291_A->G 11 134226291 134226291 A G snp 3892.77 1/1 99 141 0 141 1.0 splicing rs3802929 GLB1L2 AU NM_138342 exon6 c.24332+4A>G 0.117812 0.3105 0.013543 0.0582 0.3382 Pathogenic 11_134234081_G->C 11 134234081 134234081 G C snp 979.77 1/1 72 27 0 27 1.0 intronic rs11601964 GLB1L2 AU NM_138342 exon8 c.32266-140G>C 0.239417 0.499 Uncertain 11_134234105_G->A 11 134234105 134234105 G A snp 1574.77 1/1 99 49 0 49 1.0 intronic rs74238194 GLB1L2 AU NM_138342 exon8 c.32266-116G>A 0.00239617 0.0119 Uncertain 11_134234186_G->A 11 134234186 134234186 G A snp 4107.77 1/1 99 159 0 159 1.0 intronic rs60460137 GLB1L2 AU NM_138342 exon8 c.32266-35G>A 0.314297 0.498 0.244306 0.3040 0.5110 Uncertain 11_134234406_A->T 11 134234406 134234406 A T snp 550.77 1/1 42 14 0 14 1.0 intronic rs4262740 GLB1L2 AU NM_138342 exon8 c.32337+114A>T 0.922524 0.994 Uncertain 11_134234408_G->A 11 134234408 134234408 G A snp 520.77 1/1 39 13 0 13 1.0 intronic rs7103363 GLB1L2 AU NM_138342 exon8 c.32337+116G>A 0.332468 0.5 Uncertain 11_134238372_C->G 11 134238372 134238372 C G snp 133.03 1/1 12 4 0 4 1.0 intronic rs3741101 GLB1L2 AU NM_138342 exon10 c.36582-165C>G 0.24381 0.5069 Uncertain 11_134244123_C->G 11 134244123 134244123 C G snp 4217.77 1/1 99 158 0 158 1.0 exonic rs3741097 GLB1L2 AU synonymous SNV NM_138342 exon17 c.C1680G p.T560T 0.266174 0.5089 0.170745 0.2340 0.5151 0.005 P -0.912 T Likely benign 11_134244322_A->C 11 134244322 134244322 A C snp 141.03 1/1 12 4 0 4 1.0 intronic rs893947 GLB1L2 AU NM_138342 exon17 c.42195+172A>C 0.482228 0.5089 Uncertain 11_134251777_C->A 11 134251777 134251777 C A snp 1656.77 1/1 99 49 0 49 1.0 intronic rs729687 B3GAT1 AU 0.40595 0.6677 0.306833 Uncertain 11_134856536_A->G 11 134856536 134856536 A G snp 1748.77 0/1 99 144 70 74 0.51 intergenic rs11826779 LOC283177 AU 0.102835 0.2341 0.0551 0.25 Uncertain 11_134856603_C->T 11 134856603 134856603 C T snp 2513.77 0/1 99 235 124 111 0.47 intergenic rs117318814 LOC283177 AU 0.071885 0.2331 0.0529 0.25 Uncertain 11_134856661_C->A 11 134856661 134856661 C A snp 1949.77 0/1 99 188 104 84 0.45 intergenic rs1971950 LOC283177 AU 0.582867 0.6766 0.5182 0.7803 Uncertain 11_134856792_A->G 11 134856792 134856792 A G snp 68.77 0/1 97 8 5 3 0.38 intergenic rs11826814 LOC283177 AU 0.102636 0.2331 Uncertain 12_235022_C->T 12 235022 235022 C T snp 2417.77 1/1 99 98 0 98 1.0 exonic IQSEC3 AU nonsynonymous SNV NM_001170738 exon3 c.C847T p.P283S 0.958267 1 0.968579 0.9901 1 0.66 T 0.000 P -0.968 T Pathogenic 12_235126_-->C 12 235126 235126 - C indel 924.73 1/1 32 56 6 50 0.89 intronic IQSEC3 AU NM_001170738 exon3 c.59030+48insC 0.23722 0.252 0.297540 0.1813 0.4074 Uncertain 12_235128_T->C 12 235128 235128 T C snp 696.77 0/1 99 54 20 34 0.63 intronic IQSEC3 AU NM_001170738 exon3 c.59030+50T>C 0.591254 0.6032 0.7876 0.5946 Uncertain 12_247923_A->G 12 247923 247923 A G snp 2278.77 0/1 99 133 44 89 0.67 exonic IQSEC3 AU nonsynonymous SNV NM_001170738 exon4 c.A1394G p.D465G 0.126997 0.0278 0.107666 0.1475 0.0354 0.12 T 0.0 P -0.953 T 0.034 T 0.036 T Pathogenic 12_248155_C->T 12 248155 248155 C T snp 463.77 0/1 99 43 23 20 0.47 exonic IQSEC3 AU synonymous SNV NM_001170738 exon4 c.C1626T p.A542A 0.13119 0.0258 0.1794 0.0312 Uncertain 12_248202_C->G 12 248202 248202 C G snp 963.77 1/1 69 37 0 37 1.0 exonic IQSEC3 AU nonsynonymous SNV NM_001170738 exon4 c.C1673G p.A558G 0.65615 0.7093 0.650283 0.7228 0.7495 0.44 T 0.0 P -0.955 T 0.0 T 0.0 T Pathogenic 12_250130_T->C 12 250130 250130 T C snp 791.77 1/1 60 23 0 23 1.0 ncRNA_exonic LOC574538 AU 0.660942 0.6806 Uncertain 12_271022_G->A 12 271022 271022 G A snp 174.9 1/1 15 6 0 6 1.0 intronic IQSEC3 AU NM_001170738 exon8 c.95043-69G>A 0.822883 0.9534 Uncertain 12_271373_A->G 12 271373 271373 A G snp 495.77 1/1 39 16 0 16 1.0 intronic IQSEC3 AU NM_001170738 exon8 c.95183+142A>G 0.944289 0.998 Uncertain 12_274572_G->C 12 274572 274572 G C snp 2867.77 1/1 99 105 0 105 1.0 intronic IQSEC3 AU NM_001170738 exon10 c.98551-27G>C 0.947684 1 0.944256 0.9839 1 Uncertain 12_278082_C->T 12 278082 278082 C T snp 1368.77 0/1 99 100 50 50 0.5 intronic IQSEC3 AU NM_001170738 exon12 c.102130-96C>T 0.0780751 0.1756 Uncertain 12_284058_T->C 12 284058 284058 T C snp 2836.77 1/1 99 108 0 108 1.0 exonic rs216230 IQSEC3 AU synonymous SNV NM_001170738 exon14 c.T3408C p.G1136G 0.923722 0.8502 0.955001 0.9435 0.8582 Uncertain 12_301843_A->G 12 301843 301843 A G snp 1624.77 1/1 99 49 0 49 1.0 intronic rs646569 SLC6A12 AU NM_001122848 exon2 c.1581+29A>G 0.927915 0.8046 0.964709 0.9472 0.8038 Uncertain 12_305254_T->C 12 305254 305254 T C snp 1693.77 1/1 99 60 0 60 1.0 intronic rs533572 SLC6A12 AU NM_001122848 exon5 c.5056-35T>C 0.714058 0.7044 0.633467 0.6349 0.7335 Uncertain 12_310113_A->G 12 310113 310113 A G snp 298.77 0/1 99 19 7 12 0.63 intronic rs4980863 SLC6A12 AU NM_001122848 exon10 c.9716+164A>G 0.264177 0.2431 Uncertain 12_310901_T->C 12 310901 310901 T C snp 1040.77 0/1 99 98 49 49 0.5 intronic rs216248 SLC6A12 AU NM_001122848 exon11 c.10694-26T>C 0.63139 0.6399 0.547209 0.5179 0.6459 Uncertain 12_311816_C->T 12 311816 311816 C T snp 114.77 0/1 99 8 4 4 0.5 intronic rs216249 SLC6A12 AU NM_001122848 exon12 c.11672-89C>T 0.677516 0.7321 Uncertain 12_311949_A->G 12 311949 311949 A G snp 408.77 0/1 99 42 23 19 0.45 exonic rs216250 SLC6A12 AU synonymous SNV NM_003044 exon6 c.T447C p.T149T 0.616014 0.6339 0.528679 0.5061 0.6427 Uncertain 12_312200_C->T 12 312200 312200 C T snp 71.77 0/1 99 8 5 3 0.38 intronic rs216251 SLC6A12 AU NM_001122848 exon12 c.11813+154C>T 0.528554 0.5308 Uncertain 12_319111_T->C 12 319111 319111 T C snp 1884.77 0/1 99 171 89 82 0.48 exonic rs526690 SLC6A12 AU synonymous SNV NM_003044 exon4 c.A42G p.A14A 0.529153 0.3075 0.594187 0.5272 0.3416 Uncertain 12_319125_A->G 12 319125 319125 A G snp 1829.77 0/1 99 151 75 76 0.5 exonic rs557881 SLC6A12 AU nonsynonymous SNV NM_003044 exon4 c.T28C p.C10R 0.52496 0.3145 0.587729 0.5238 0.3465 0.41 T 0.000 P -0.954 T 0.0 T 0.0 T ID=CM103467;DIS=Asthma, aspirin-intolerant, association with;TAG=DP;PUB=20597903 DP Pathogenic 12_330315_T->G 12 330315 330315 T G snp 1232.77 0/1 99 104 55 49 0.47 intronic rs570680 SLC6A13 AU NM_016615 exon1 c.123+79T>G 0.392772 0.1657 Uncertain 12_332362_C->T 12 332362 332362 C T snp 679.77 0/1 99 73 41 32 0.44 exonic rs2289954 SLC6A13 AU synonymous SNV NM_001190997 exon10 c.G1074A p.A358A 0.173922 0.1359 0.211672 0.1897 0.1718 Uncertain 12_336939_G->A 12 336939 336939 G A snp 1965.77 1/1 99 70 0 70 1.0 intronic rs78830217 SLC6A13 AU NM_016615 exon8 c.6721+105G>A 0.00778754 0.0387 Uncertain 12_344553_T->C 12 344553 344553 T C snp 77.77 0/1 99 6 3 3 0.5 intronic rs11610036 SLC6A13 AU NM_016615 exon9 c.14277+163T>C 0.081869 0.0437 Uncertain 12_346235_G->A 12 346235 346235 G A snp 263.77 0/1 99 15 6 9 0.6 intronic rs12579445 SLC6A13 AU NM_016615 exon10 c.16210-88G>A 0.053115 0.0437 Uncertain 12_346490_T->C 12 346490 346490 T C snp 1399.77 0/1 99 120 55 65 0.54 intronic rs2289956 SLC6A13 AU NM_016615 exon10 c.16343+34T>C 0.00978435 0.0437 0.000077 0.0050 0.0586 Uncertain 12_347359_C->T 12 347359 347359 C T snp 795.77 0/1 99 74 41 33 0.45 intronic rs56871431 SLC6A13 AU NM_016615 exon11 c.17063+183C>T 0.121406 0.2946 Uncertain 12_351711_T->G 12 351711 351711 T G snp 1270.77 1/1 93 37 0 37 1.0 intronic rs525797 SLC6A13 AU NM_016615 exon12 c.21666-68T>G 0.75 0.6548 Uncertain 12_351968_C->T 12 351968 351968 C T snp 1164.77 0/1 99 68 25 43 0.63 intronic rs74057642 SLC6A13 AU NM_016615 exon12 c.21807+48C>T 0.114617 0.2937 0.030160 0.0425 0.3063 Uncertain 12_352036_T->C 12 352036 352036 T C snp 32.77 0/1 61 8 6 2 0.25 intronic rs147742669 SLC6A13 AU NM_016615 exon12 c.21807+116T>C 0.00958466 0.0427 Uncertain 12_368953_T->C 12 368953 368953 T C snp 1189.77 0/1 99 109 61 48 0.44 intronic rs117603556 SLC6A13 AU NM_016615 exon14 c.38903-63T>C 0.00998403 0.0437 0.0050 0.0619 0 D 1 N -1.034 T 0.0 T 0.0 T Uncertain 12_406292_G->A 12 406292 406292 G A snp 1192.77 0/1 99 108 54 54 0.5 exonic rs2229351 KDM5A AU synonymous SNV NM_001042603 exon25 c.C4149T p.S1383S 0.352636 0.5109 0.273243 0.3104 0.5035 Uncertain 12_416046_-->T 12 416046 416046 - T indel 34.73 0/1 72 18 12 6 0.33 intronic rs35042439 KDM5A AU NM_001042603 exon5 c.21490-65insT Uncertain 12_417299_C->T 12 417299 417299 C T snp 293.77 0/1 99 16 7 9 0.56 intronic rs117106175 KDM5A AU NM_001042603 exon6 c.22550+128C>T 0.0109824 0.0486 Uncertain 12_418916_C->T 12 418916 418916 C T snp 2388.77 1/1 99 91 0 91 1.0 intronic rs4980877 KDM5A AU NM_001042603 exon7 c.24347-52C>T 0.419329 0.5635 Uncertain 12_427575_A->G 12 427575 427575 A G snp 733.77 0/1 99 104 67 37 0.36 exonic rs11062385 KDM5A AU nonsynonymous SNV NM_001042603 exon19 c.T2594C p.M865T 0.353035 0.5109 0.273405 0.3102 0.5038 0.42 T 0.480 P -0.915 T 0.001 T 0.004 T Pathogenic 12_432654_T->A 12 432654 432654 T A snp 77.28 1/1 9 3 0 3 1.0 intronic rs3213750 KDM5A AU NM_001042603 exon14 c.38144-111T>A 0.414337 0.5585 Uncertain 12_442620_C->T 12 442620 442620 C T snp 1215.77 0/1 99 97 45 52 0.54 intronic rs4980885 KDM5A AU NM_001042603 exon17 c.48031-32C>T 0.351637 0.506 0.269988 0.3098 0.4987 Uncertain 12_461598_C->A 12 461598 461598 C A snp 77.77 0/1 99 6 3 3 0.5 intronic rs715230 KDM5A AU NM_001042603 exon20 c.66869+108C>A 0.646965 0.4931 Uncertain 12_463248_G->C 12 463248 463248 G C snp 1050.77 0/1 99 120 69 51 0.42 exonic rs2229352 KDM5A AU synonymous SNV NM_001042603 exon8 c.C1023G p.V341V 0.0109824 0.0486 0.000249 0.0054 0.0658 Uncertain 12_463421_G->T 12 463421 463421 G T snp 99.77 0/1 99 11 7 4 0.36 intronic rs35769302 KDM5A AU NM_001042603 exon21 c.68779+21G>T 0.0171725 0.0357 0.016182 0.0208 0.0695 Uncertain 12_464254_T->C 12 464254 464254 T C snp 1338.77 0/1 99 128 70 58 0.45 intronic rs3759371 KDM5A AU NM_001042603 exon22 c.69702-69T>C 0.647963 0.4931 Uncertain 12_493427_T->C 12 493427 493427 T C snp 308.77 0/1 88 14 4 10 0.71 intronic rs117908763 KDM5A AU NM_001042603 exon26 c.98698+108T>C 0.0109824 0.0486 Uncertain 12_493443_A->G 12 493443 493443 A G snp 94.28 1/1 9 3 0 3 1.0 intronic rs10774150 KDM5A AU NM_001042603 exon26 c.98698+124A>G 0.788938 0.8333 Uncertain 12_496393_A->- 12 496393 496393 A - indel 366.77 0/1 20 29 5 24 0.83 intronic rs201508413 KDM5A AU NM_001042603 exon27 c.100519+1253delA 0.23742 0.4048 0.4218 0.4918 Uncertain 12_496439_A->T 12 496439 496439 A T snp 344.77 0/1 99 24 10 14 0.58 intronic rs7965303 KDM5A AU NM_001042603 exon27 c.100519+1299A>T 0.649161 0.4931 0.6862 0.5455 1 T 0.0 P -0.958 T Uncertain 12_497618_T->C 12 497618 497618 T C snp 44.77 0/1 33 3 1 2 0.67 intronic rs572423520 KDM5A AU NM_001042603 exon28 c.103471-474T>C 0.000199681 0.001 Uncertain 12_498268_GG->- 12 498268 498269 GG - indel 3522.73 ./1 99 188 8 180 0.96 UTR5 rs762037350 KDM5A AU 0.1643 0.1013 Uncertain 12_498268_G->- 12 498268 498268 G - indel 3522.73 ./1 99 188 8 180 0.96 UTR5 rs34704738 KDM5A AU 0.1481 0.3840 Uncertain 12_518787_A->G 12 518787 518787 A G snp 79.77 0/1 99 10 6 4 0.4 intronic rs80187714 CCDC77 AU NM_032358 exon3 c.38+200A>G 0.0874601 0.3065 Uncertain 12_518795_A->G 12 518795 518795 A G snp 187.9 1/1 15 7 0 7 1.0 intronic rs10744627 CCDC77 AU NM_032358 exon3 c.38+208A>G 0.712859 0.8145 Uncertain 12_537841_-->A 12 537841 537841 - A indel 214.74 1/1 27 9 0 9 1.0 intronic rs35713455 CCDC77 AU NM_001130146 exon5 c.16964-93insA 0.628395 0.627 Uncertain 12_539984_C->T 12 539984 539984 C T snp 400.77 0/1 99 36 22 14 0.39 intronic rs55854088 CCDC77 AU NM_001130146 exon6 c.18932+82C>T 0.383786 0.5675 Uncertain 12_540994_A->G 12 540994 540994 A G snp 827.77 1/1 63 25 0 25 1.0 intronic rs7310504 CCDC77 AU NM_001130146 exon7 c.20061-37A>G 0.796326 0.7798 0.756343 0.7549 0.8254 Uncertain 12_547325_A->G 12 547325 547325 A G snp 96.28 1/1 9 3 0 3 1.0 intronic rs758539 CCDC77 AU NM_001130146 exon9 c.26530-175A>G 0.983227 0.994 Uncertain 12_550911_-->T 12 550911 550911 - T indel 147.73 0/1 99 75 23 52 0.69 intronic rs201056780 CCDC77 AU NM_001130146 exon12 c.29969-28insT 0.0203674 0.0288 0.0129 0.0443 Uncertain 12_644337_G->A 12 644337 644337 G A snp 2522.77 0/1 99 220 112 108 0.49 exonic rs2075033 B4GALNT3 AU nonsynonymous SNV NM_173593 exon2 c.G175A p.G59S 0.114417 0.1389 0.103106 0.0942 0.1582 0.42 T 0.059 P -0.922 T 0.07 T 0.003 T Pathogenic 12_645557_C->T 12 645557 645557 C T snp 230.77 0/1 99 15 6 9 0.6 intronic rs34868457 B4GALNT3 AU NM_173593 exon3 c.75919+96C>T 0.239617 0.1389 Uncertain 12_653378_G->A 12 653378 653378 G A snp 77.77 0/1 69 5 2 3 0.6 intronic rs11063501 B4GALNT3 AU NM_173593 exon4 c.83962-126G>A 0.0988419 0.1052 Uncertain 12_653984_T->C 12 653984 653984 T C snp 1268.77 0/1 99 78 28 50 0.64 intronic rs1008587 B4GALNT3 AU NM_173593 exon5 c.84505-63T>C 0.526358 0.631 Uncertain 12_655707_T->C 12 655707 655707 T C snp 434.77 0/1 99 44 25 19 0.43 intronic rs4980937 B4GALNT3 AU NM_173593 exon7 c.86269-104T>C 0.47504 0.381 Uncertain 12_657071_A->G 12 657071 657071 A G snp 77.77 0/1 67 5 2 3 0.6 intronic rs917667 B4GALNT3 AU NM_173593 exon8 c.87647-118A>G 0.430112 0.378 Uncertain 12_658788_G->A 12 658788 658788 G A snp 560.77 0/1 99 37 18 19 0.51 intronic rs4980938 B4GALNT3 AU NM_173593 exon10 c.89392-146G>A 0.249601 0.2073 Uncertain 12_658871_A->G 12 658871 658871 A G snp 2193.77 0/1 99 169 81 88 0.52 intronic rs4980939 B4GALNT3 AU NM_173593 exon10 c.89392-63A>G 0.345847 0.377 Uncertain 12_660065_T->C 12 660065 660065 T C snp 2198.77 0/1 99 215 113 102 0.47 intronic rs12423166 B4GALNT3 AU NM_173593 exon11 c.90545-22T>C 0.183706 0.2063 0.116715 0.1615 0.2374 Uncertain 12_661459_ACACACAC->- 12 661459 661466 ACACACAC - indel 610.73 0/1 92 20 3 17 0.85 intronic rs199821226 B4GALNT3 AU NM_173593 exon12 c.91787+130_91787+137delACACACAC Uncertain 12_661772_G->A 12 661772 661772 G A snp 829.77 0/1 99 46 17 29 0.63 intronic rs7314430 B4GALNT3 AU NM_173593 exon13 c.92152+78G>A 0.482029 0.3998 Uncertain 12_662276_C->T 12 662276 662276 C T snp 249.77 0/1 99 24 13 11 0.46 intronic rs12423080 B4GALNT3 AU NM_173593 exon14 c.92817-83C>T 0.163139 0.2024 Uncertain 12_662448_T->C 12 662448 662448 T C snp 1762.77 0/1 99 145 70 75 0.52 exonic rs758790 B4GALNT3 AU synonymous SNV NM_173593 exon14 c.T1359C p.L453L 0.847244 0.8958 0.734276 0.7299 0.9069 Uncertain 12_663224_A->G 12 663224 663224 A G snp 34.77 0/1 63 8 6 2 0.25 intronic rs11063564 B4GALNT3 AU NM_173593 exon14 c.93607+75A>G 0.483027 0.4008 Uncertain 12_666943_A->G 12 666943 666943 A G snp 214.77 0/1 99 19 12 7 0.37 intronic rs7300933 B4GALNT3 AU NM_173593 exon16 c.97385+16A>G 0.326677 0.3264 0.342457 0.3447 0.3113 Uncertain 12_670398_C->T 12 670398 670398 C T snp 972.77 1/1 72 31 0 31 1.0 intronic rs150227970 B4GALNT3 AU NM_173593 exon20 c.100966-110C>T 0.00838658 0.0377 Uncertain 12_752327_C->A 12 752327 752327 C A snp 2061.77 1/1 99 82 0 82 1.0 ncRNA_intronic rs6489690 LOC100049716 AU 0.950879 0.999 Uncertain 12_752360_G->A 12 752360 752360 G A snp 2152.77 1/1 99 84 0 84 1.0 ncRNA_intronic rs55800929 LOC100049716 AU 0.0938498 0.1091 Uncertain 12_753331_G->A 12 753331 753331 G A snp 1249.77 1/1 90 42 0 42 1.0 ncRNA_exonic rs11613701 LOC100049716 AU 0.165136 0.2272 Uncertain 12_862989_T->C 12 862989 862989 T C snp 3821.77 1/1 99 138 0 138 1.0 exonic rs3168640 WNK1 AR,AD synonymous SNV NM_001184985 exon1 c.T258C p.C86C 0.975639 1 0.972397 0.9924 0.9999 Uncertain 12_863517_G->A 12 863517 863517 G A snp 2284.77 1/1 99 84 0 84 1.0 intronic rs3858703 WNK1 AR,AD NM_014823 exon1 c.759+27G>A 0.636182 0.877 0.610795 0.6821 0.8641 Uncertain 12_936468_C->G 12 936468 936468 C G snp 2446.77 1/1 99 93 0 93 1.0 intronic rs2158502 WNK1 AR,AD NM_014823 exon3 c.73697+40C>G 0.696885 0.871 0.688759 0.7476 0.8661 Uncertain 12_939302_A->G 12 939302 939302 A G snp 3864.77 1/1 99 122 0 122 1.0 exonic rs10774466 WNK1 AR,AD synonymous SNV NM_001184985 exon4 c.A1287G p.A429A 0.69349 0.871 0.685530 0.7451 0.8653 Uncertain 12_966208_G->A 12 966208 966208 G A snp 308.78 1/1 24 11 0 11 1.0 intronic rs2240284 WNK1 AR,AD NM_014823 exon5 c.103595-118G>A 0.53754 0.8036 Uncertain 12_970094_T->- 12 970094 970094 T - indel 143.75 1/1 23 8 0 8 1.0 intronic rs11286613 WNK1 AR,AD NM_014823 exon7 c.107447-84delT 0.70028 0.8522 Uncertain 12_974137_-->A 12 974137 974137 - A indel 102.87 1/1 15 5 0 5 1.0 intronic rs11441896 WNK1 AR,AD NM_213655 exon9 c.111544-138insA 0.684105 0.8611 Uncertain 12_974355_-->C 12 974355 974355 - C indel 10391.7 1/1 99 249 0 249 1.0 exonic rs11441897 WNK1 AR,AD frameshift insertion NM_213655 exon9 c.2220dupC p.L740fs 0.518371 0.5813 0.5445 0.5588 Pathogenic 12_974404_T->C 12 974404 974404 T C snp 6861.77 1/1 99 250 0 250 1.0 exonic rs7300829 WNK1 AR,AD synonymous SNV NM_213655 exon9 c.T2268C p.P756P 0.653954 0.629 0.6031 0.6048 Uncertain 12_987482_G->A 12 987482 987482 G A snp 4701.77 1/1 99 165 0 165 1.0 exonic rs1012729 WNK1 AR,AD synonymous SNV NM_018979 exon10 c.G2328A p.Q776Q 0.679513 0.8284 0.679533 0.7340 0.8004 0.962 P -1.037 T Likely benign 12_987533_-->T 12 987533 987533 - T indel 880.73 0/1 99 107 17 90 0.84 splicing rs398116010 WNK1 AR,AD NM_014823 exon10 c.124796+6insT 0.442093 0.496 0.4607 0.4757 Pathogenic 12_990912_A->C 12 990912 990912 A C snp 3438.77 1/1 99 121 0 121 1.0 exonic rs956868 WNK1 AR,AD nonsynonymous SNV NM_001184985 exon13 c.A3946C p.T1316P 0.852835 0.8175 0.852606 0.8314 0.7978 0.89 T 0.000 P -1.004 T 0.0 T 0.0 T ID=CM065520;DIS=Colorectal cancer, increased risk, association with;TAG=DP;PUB=17000706 DP Pathogenic 12_993930_C->T 12 993930 993930 C T snp 7752.77 1/1 99 249 0 249 1.0 exonic rs7300444 WNK1 AR,AD synonymous SNV NM_001184985 exon19 c.C4740T p.N1580N 0.398962 0.5377 0.391665 0.4192 0.5156 CLINSIG=non-pathogenic;CLNDBN=not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000126339.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Uncertain 12_994487_G->C 12 994487 994487 G C snp 6473.77 1/1 99 219 0 219 1.0 exonic rs7955371 WNK1 AR,AD nonsynonymous SNV NM_001184985 exon19 c.G5297C p.C1766S 0.986821 1 0.986083 0.9963 1 0.89 T 0.0 P -0.954 T 0.0 T 0.0 T Pathogenic 12_995179_C->G 12 995179 995179 C G snp 784.77 0/1 99 86 48 38 0.44 exonic rs577485048 WNK1 AR,AD nonsynonymous SNV NM_001184985 exon19 c.C5989G p.P1997A 0.000399361 0.002 0.0003 0.0036 0.14 T 1.000 D -0.520 T 0.047 T 0.056 T Pathogenic 12_995291_-->T 12 995291 995291 - T indel 450.73 1/1 48 19 0 19 1.0 intronic rs11450919 WNK1 AR,AD NM_014823 exon17 c.132519+41insT 0.867412 0.8175 0.852495 0.8287 0.7856 Uncertain 12_995378_A->G 12 995378 995378 A G snp 91.28 1/1 9 4 0 4 1.0 intronic rs7975948 WNK1 AR,AD NM_014823 exon17 c.132519+128A>G 0.178115 0.4117 Uncertain 12_996205_A->T 12 996205 996205 A T snp 139.03 1/1 12 4 0 4 1.0 intronic rs12298816 WNK1 AR,AD NM_014823 exon18 c.133655-181A>T 0.986821 1 Uncertain 12_1005095_A->G 12 1005095 1005095 A G snp 96.28 1/1 9 3 0 3 1.0 intronic rs2269937 WNK1 AR,AD NM_014823 exon22 c.142505-141A>G 0.427915 0.5327 Uncertain 12_1017197_C->T 12 1017197 1017197 C T snp 1835.77 1/1 99 66 0 66 1.0 exonic rs4766334 WNK1 AR,AD synonymous SNV NM_001184985 exon27 c.C7608T p.Y2536Y 0.987021 1 0.986160 0.9964 1 Uncertain 12_1022679_A->G 12 1022679 1022679 A G snp 1840.77 1/1 99 60 0 60 1.0 intronic rs6413436 RAD52 AU NM_001297419 exon1 c.62+61A>G 0.374401 0.5367 0.340342 Uncertain 12_1035947_C->A 12 1035947 1035947 C A snp 486.77 1/1 36 17 0 17 1.0 intronic rs6489763 RAD52 AU NM_001297420 exon2 c.1333-14C>A 0.992812 1 0.993697 0.9969 1 Uncertain 12_1040219_G->A 12 1040219 1040219 G A snp 844.77 1/1 63 24 0 24 1.0 intronic rs11571409 RAD52 AU NM_001297419 exon10 c.17829-166G>A 0.442093 0.5377 Uncertain 12_1041962_AACGTACTAGGTACTGCTCACACACGTACTAGGTA->- 12 1041962 1041996 AACGTACTAGGTACTGCTCACACACGTACTAGGTA - indel 1541.87 1/1 15 5 0 5 1.0 intronic rs144288423 RAD52 AU NM_001297419 exon11 c.19584-178_19584-144delAACGTACTAGGTACTGCTCACACACGTACTAGGTA 0.495208 0.5278 ID=COSN168882;OCCURENCE=1(large_intestine),1(skin) Uncertain 12_1042262_A->- 12 1042262 1042262 A - indel 577.73 1/1 60 22 0 22 1.0 intronic rs398097936 RAD52 AU NM_001297419 exon11 c.19686+20delA 0.258986 0.3542 0.263339 0.2897 0.4028 Uncertain 12_1137117_G->C 12 1137117 1137117 G C snp 2323.77 0/1 99 199 106 93 0.47 exonic rs61740169 ERC1 AU nonsynonymous SNV NM_001301248 exon1 c.G48C p.Q16H 0.00439297 0.0218 0.000077 0.0015 0.0184 0.02 T 0.999 D 0.044 D 0.987 D 0.66 D Pathogenic 12_1192867_C->T 12 1192867 1192867 C T snp 307.78 1/1 24 8 0 8 1.0 intronic rs10734995 ERC1 AU NM_178039 exon3 c.55677+121C>T 0.990815 1 Uncertain 12_1213841_C->T 12 1213841 1213841 C T snp 1015.77 0/1 99 87 41 46 0.53 intronic rs546398507 ERC1 AU NM_178039 exon4 c.76846-74C>T 0.000399361 0.001 Uncertain 12_1224972_A->C 12 1224972 1224972 A C snp 876.77 0/1 99 50 17 33 0.66 intronic rs7973392 ERC1 AU NM_178039 exon6 c.87962-59A>C 0.229034 0.131 Uncertain 12_1372114_A->G 12 1372114 1372114 A G snp 237.77 0/1 99 12 5 7 0.58 intronic rs2286031 ERC1 AU NM_178039 exon13 c.235130-85A>G 0.447883 0.2649 Uncertain 12_1740480_A->G 12 1740480 1740480 A G snp 1910.77 0/1 99 174 91 83 0.48 UTR5 rs193190650 WNT5B AU 0.00319489 0.005 0.000231 0.0040 0.0058 Uncertain 12_1741616_T->C 12 1741616 1741616 T C snp 174.9 1/1 15 5 0 5 1.0 intronic rs4766401 WNT5B AU NM_032642 exon3 c.1303-207T>C 0.710863 0.7044 Uncertain 12_1748728_C->T 12 1748728 1748728 C T snp 901.77 1/1 66 29 0 29 1.0 intronic rs58317077 WNT5B AU NM_032642 exon4 c.8329-121C>T 0.379393 0.5724 Uncertain 12_1748766_G->A 12 1748766 1748766 G A snp 1366.77 1/1 96 53 0 53 1.0 intronic rs6489313 WNT5B AU NM_032642 exon4 c.8329-83G>A 0.909145 0.9802 Uncertain 12_1748834_T->C 12 1748834 1748834 T C snp 1694.77 1/1 99 69 0 69 1.0 intronic rs2270036 WNT5B AU NM_032642 exon4 c.8329-15T>C 0.811701 0.7103 0.815549 0.7923 0.7124 Uncertain 12_1863728_A->T 12 1863728 1863728 A T snp 436.77 0/1 99 30 13 17 0.57 intronic rs11061971 ADIPOR2 AU NM_024551 exon2 c.171+48A>T 0.605032 0.6091 0.524373 0.5186 0.6004 Uncertain 12_1889823_G->A 12 1889823 1889823 G A snp 1469.77 1/1 99 50 1 49 0.98 intronic rs767870 ADIPOR2 AU NM_024551 exon5 c.26294+20G>A 0.711462 0.8889 0.700753 0.8173 0.9090 Uncertain 12_1889920_T->A 12 1889920 1889920 T A snp 348.78 1/1 27 11 0 11 1.0 intronic rs10848575 ADIPOR2 AU NM_024551 exon5 c.26294+117T>A 0.835663 0.9732 Uncertain 12_1889921_T->A 12 1889921 1889921 T A snp 296.78 1/1 24 10 0 10 1.0 intronic rs2887630 ADIPOR2 AU NM_024551 exon5 c.26294+118T>A 0.967053 1 Uncertain 12_1902766_T->G 12 1902766 1902766 T G snp 2087.77 0/1 99 189 94 95 0.5 UTR3 rs2058111 CACNA2D4 AU 0.383986 0.4653 Uncertain 12_1904726_-->AC 12 1904726 1904726 - AC indel 301.77 1/1 21 9 0 9 1.0 intronic rs3078853 CACNA2D4 AU NM_172364 exon3 c.2011-105insAC 0.761581 0.7351 Uncertain 12_1906903_G->C 12 1906903 1906903 G C snp 169.9 1/1 15 5 0 5 1.0 intronic rs968422 CACNA2D4 AU NM_172364 exon4 c.3881+202G>C 0.63778 0.6667 Uncertain 12_1919543_C->T 12 1919543 1919543 C T snp 3148.77 1/1 99 120 0 120 1.0 intronic rs2286377 CACNA2D4 AU NM_172364 exon10 c.16686+37C>T 0.46226 0.5714 0.527226 0.5749 0.6014 Uncertain 12_1937511_T->C 12 1937511 1937511 T C snp 1182.77 1/1 87 36 0 36 1.0 intronic rs10437823 CACNA2D4 AU NM_172364 exon13 c.47084-12393T>C 0.609425 0.377 Uncertain 12_1950011_-->C 12 1950011 1950011 - C indel 5452.73 1/1 99 121 0 121 1.0 intronic rs58188909 CACNA2D4 AU NM_172364 exon13 c.47165+26insC 0.938498 0.999 0.884764 0.9134 0.9999 Uncertain 12_1953866_A->C 12 1953866 1953866 A C snp 330.77 0/1 99 21 10 11 0.52 intronic rs2286375 CACNA2D4 AU NM_172364 exon14 c.50875+171A>C 0.183506 0.4276 Uncertain 12_1955664_G->T 12 1955664 1955664 G T snp 239.77 0/1 99 23 13 10 0.43 intronic rs7137553 CACNA2D4 AU NM_172364 exon15 c.52939-95G>T 0.717851 0.5734 Uncertain 12_1955668_C->A 12 1955668 1955668 C A snp 255.77 0/1 99 23 13 10 0.43 intronic rs7138458 CACNA2D4 AU NM_172364 exon15 c.52939-91C>A 0.717652 0.5724 Uncertain 12_1955786_G->A 12 1955786 1955786 G A snp 1725.77 0/1 99 170 91 79 0.46 exonic rs11836202 CACNA2D4 AU synonymous SNV NM_172364 exon24 c.C2316T p.F772F 0.178514 0.4206 0.034891 0.1424 0.4797 Uncertain 12_1955890_T->C 12 1955890 1955890 T C snp 5160.77 1/1 99 190 1 189 0.99 intronic rs7137876 CACNA2D4 AU NM_172364 exon15 c.53035+35T>C 0.899361 0.999 0.833174 0.8542 0.9988 Uncertain 12_1962992_A->G 12 1962992 1962992 A G snp 349.78 1/1 27 10 0 10 1.0 intronic rs2041141 CACNA2D4 AU NM_172364 exon16 c.60296-124A>G 0.938498 0.999 Uncertain 12_1963359_C->T 12 1963359 1963359 C T snp 395.77 0/1 99 31 17 14 0.45 intronic rs4766425 CACNA2D4 AU NM_172364 exon16 c.60390+149C>T 0.173922 0.4226 Uncertain 12_1965369_G->A 12 1965369 1965369 G A snp 1739.77 0/1 99 166 87 79 0.48 exonic rs2286372 CACNA2D4 AU synonymous SNV NM_172364 exon21 c.C2035T p.L679L 0.173922 0.4226 0.039640 0.0957 0.4221 Uncertain 12_1967540_A->T 12 1967540 1967540 A T snp 59.74 1/1 6 4 1 3 0.75 intronic rs3815324 CACNA2D4 AU NM_172364 exon19 c.64922-202A>T 0.198482 0.4435 Uncertain 12_1967676_G->A 12 1967676 1967676 G A snp 1458.77 0/1 99 109 43 66 0.61 intronic rs2286371 CACNA2D4 AU NM_172364 exon19 c.64922-66G>A 0.165535 0.4226 0.028033 Uncertain 12_1967947_C->G 12 1967947 1967947 C G snp 213.77 0/1 99 19 12 7 0.37 intronic rs2286369 CACNA2D4 AU NM_172364 exon19 c.64990+137C>G 0.554912 0.5486 Uncertain 12_1967955_A->G 12 1967955 1967955 A G snp 194.77 0/1 99 11 4 7 0.64 intronic rs2286368 CACNA2D4 AU NM_172364 exon19 c.64990+145A>G 0.233427 0.4435 Uncertain 12_1969262_T->C 12 1969262 1969262 T C snp 2459.77 0/1 99 250 146 104 0.42 intronic rs10848582 CACNA2D4 AU NM_172364 exon20 c.66490-48T>C 0.317891 0.3403 0.396285 0.4677 0.3450 Uncertain 12_1969435_G->C 12 1969435 1969435 G C snp 242.77 0/1 99 28 18 10 0.36 intronic rs2370057 CACNA2D4 AU NM_172364 exon20 c.66552+63G>C 0.585264 0.5437 0.460797 Uncertain 12_1969505_G->A 12 1969505 1969505 G A snp 50.77 0/1 79 7 4 3 0.43 intronic rs56110511 CACNA2D4 AU NM_172364 exon20 c.66552+133G>A 0.325879 0.4683 Uncertain 12_1991971_A->G 12 1991971 1991971 A G snp 1232.77 0/1 99 107 57 50 0.47 intronic rs55779143 CACNA2D4 AU NM_172364 exon26 c.89212-61A>G 0.367412 0.4762 Uncertain 12_1993337_T->C 12 1993337 1993337 T C snp 889.77 1/1 66 25 0 25 1.0 intronic rs2429184 CACNA2D4 AU NM_172364 exon27 c.90588-71T>C 0.9375 0.999 Uncertain 12_1995042_A->G 12 1995042 1995042 A G snp 222.84 1/1 18 7 0 7 1.0 intronic rs10774003 CACNA2D4 AU NM_172364 exon30 c.92310-88A>G 0.763978 0.8889 Uncertain 12_1995403_T->C 12 1995403 1995403 T C snp 3452.77 1/1 99 128 0 128 1.0 exonic rs10735005 CACNA2D4 AU nonsynonymous SNV NM_172364 exon8 c.A979G p.I327V 0.937101 0.999 0.916468 0.9064 0.9994 1 T 1.0 P -0.957 T 0.0 T 0.0 T Pathogenic 12_1995622_G->C 12 1995622 1995622 G C snp 39.74 1/1 6 2 0 2 1.0 intronic rs2906892 CACNA2D4 AU NM_172364 exon31 c.92719+83G>C 0.9375 0.999 Uncertain 12_2016550_-->TTGTC 12 2016550 2016550 - TTGTC indel 1168.73 1/1 45 15 0 15 1.0 intronic rs112521420 CACNA2D4 AU NM_172364 exon33 c.113785-55insTTGTC 0.937101 0.997 Uncertain 12_2016812_CTGGTGGGCGTGT->- 12 2016812 2016824 CTGGTGGGCGTGT - indel 2182.73 0/1 99 46 20 26 0.57 intronic rs146752695 CACNA2D4 AU NM_172364 exon33 c.113917+75_113917+87delCTGGTGGGCGTGT 0.332468 0.4911 Uncertain 12_2018987_A->G 12 2018987 2018987 A G snp 264.77 0/1 99 21 10 11 0.52 intronic rs34288687 CACNA2D4 AU NM_172364 exon35 c.116251-84A>G 0.235823 0.5228 Uncertain 12_2019322_G->A 12 2019322 2019322 G A snp 220.84 1/1 18 6 0 6 1.0 intronic rs8181786 CACNA2D4 AU NM_172364 exon35 c.116311+191G>A 0.936701 0.999 Uncertain 12_2022411_T->C 12 2022411 2022411 T C snp 1720.77 1/1 99 55 0 55 1.0 intronic rs1558142 CACNA2D4 AU NM_172364 exon36 c.119485+106T>C 0.929912 0.999 Uncertain 12_2024316_A->G 12 2024316 2024316 A G snp 3079.77 1/1 99 109 0 109 1.0 intronic rs758157 CACNA2D4 AU NM_172364 exon37 c.121281+215A>G 0.94369 0.999 0.9129 1 Uncertain 12_2038978_G->A 12 2038978 2038978 G A snp 365.77 1/1 30 12 0 12 1.0 ncRNA_exonic rs79802812 LINC00940 AU 0.340455 0.5734 Uncertain 12_2039022_G->C 12 2039022 2039022 G C snp 86.28 1/1 9 4 0 4 1.0 ncRNA_exonic rs66541354 LINC00940 AU 0.427117 0.6677 Uncertain 12_2039690_A->G 12 2039690 2039690 A G snp 2173.77 1/1 99 65 0 65 1.0 ncRNA_exonic rs2429172 LINC00940 AU 0.704273 0.7133 Uncertain 12_2055266_T->C 12 2055266 2055266 T C snp 1889.77 1/1 99 58 0 58 1.0 UTR3 rs7222 DCP1B AU 0.513978 0.7292 Uncertain 12_2058245_T->C 12 2058245 2058245 T C snp 2373.77 1/1 99 81 0 81 1.0 intronic rs2240612 DCP1B AU NM_152640 exon2 c.2880-6T>C 0.524361 0.7292 0.526757 0.5160 0.7430 Uncertain 12_2058695_G->A 12 2058695 2058695 G A snp 94.28 1/1 9 3 0 3 1.0 intronic rs1860048 DCP1B AU NM_152640 exon2 c.3129+195G>A 0.486022 0.7282 Uncertain 12_2062323_-->TGC 12 2062323 2062323 - TGC indel 8373.73 1/1 99 189 0 189 1.0 exonic rs111543431 DCP1B AU nonframeshift insertion NM_152640 exon7 c.782_783insGCA p.Q261delinsQQ 0.4028 0.6177 ID=COSM249162;OCCURENCE=2(liver),1(kidney),1(breast) Uncertain 12_2077128_T->C 12 2077128 2077128 T C snp 234.77 0/1 99 21 10 11 0.52 intronic rs749683287 DCP1B AU NM_152640 exon6 c.21705+52T>C 8.537e-06 0.0001 Uncertain 12_2077897_G->C 12 2077897 2077897 G C snp 553.77 1/1 42 21 0 21 1.0 intronic rs2470425 DCP1B AU NM_152640 exon6 c.21705+821G>C 0.617212 0.7312 Uncertain 12_2107036_T->C 12 2107036 2107036 T C snp 1092.77 1/1 78 43 0 43 1.0 intronic rs2302098 DCP1B AU NM_152640 exon8 c.51729-64T>C 0.332668 0.5466 0.299559 Uncertain 12_2113147_T->C 12 2113147 2113147 T C snp 133.03 1/1 12 4 0 4 1.0 intronic rs2429123 DCP1B AU NM_152640 exon9 c.58076-300T>C 0.738818 0.755 Uncertain 12_2113348_A->C 12 2113348 2113348 A C snp 2976.77 1/1 99 104 0 104 1.0 intronic rs7298333 DCP1B AU NM_152640 exon9 c.58076-99A>C 0.4373 0.5456 0.5390 0.6268 Uncertain 12_2224228_C->G 12 2224228 2224228 C G snp 77.77 0/1 99 7 4 3 0.43 intronic rs2299661 CACNA1C AU,AD NM_001167625 exon2 c.61661-161C>G 0.545128 0.6071 Uncertain 12_2558186_G->A 12 2558186 2558186 G A snp 6709.77 1/1 99 250 0 250 1.0 exonic rs1544514 CACNA1C AU,AD synonymous SNV NM_000719 exon4 c.G522A p.A174A 0.120407 0.0655 0.175699 0.2074 0.0810 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_multiple_submitters\x2c_no_conflicts;CLNACC=RCV000079297.4;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 12_2558298_G->A 12 2558298 2558298 G A snp 4490.77 1/1 99 154 0 154 1.0 intronic rs1544515 CACNA1C AU,AD NM_001167625 exon4 c.395553+17G>A 0.260184 0.1746 0.255044 0.2864 0.1659 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter|criteria_provided\x2c_single_submitter;CLNACC=RCV000079306.3|RCV000124066.1;CLNDSDB=MedGen|MedGen;CLNDSDBID=CN169374|CN221809 Uncertain 12_2558300_T->C 12 2558300 2558300 T C snp 4406.77 1/1 99 151 0 151 1.0 intronic rs1544516 CACNA1C AU,AD NM_001167625 exon4 c.395553+19T>C 0.26258 0.1746 0.250942 0.2878 0.1662 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_multiple_submitters\x2c_no_conflicts;CLNACC=RCV000079307.4;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 12_2613431_G->A 12 2613431 2613431 G A snp 117.77 0/1 66 6 2 4 0.67 intronic rs72653436 CACNA1C AU,AD NM_001167625 exon8 c.450873-170G>A 0.0786741 0.1399 Uncertain 12_2613521_A->G 12 2613521 2613521 A G snp 2327.77 1/1 99 73 1 72 0.99 intronic rs1008832 CACNA1C AU,AD NM_001167625 exon8 c.450873-80A>G 0.546326 0.5179 Uncertain 12_2613716_C->T 12 2613716 2613716 C T snp 1628.77 0/1 99 156 75 81 0.52 intronic rs2238087 CACNA1C AU,AD NM_001167625 exon8 c.450977+11C>T 0.0782748 0.1369 0.075146 0.0764 0.1387 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000124071.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 12_2621912_G->A 12 2621912 2621912 G A snp 67.77 0/1 96 6 3 3 0.5 intronic rs2239098 CACNA1C AU,AD NM_001167625 exon9 c.459249-65G>A 0.0597045 0.1339 Uncertain 12_2659045_G->- 12 2659045 2659045 G - indel 4387.73 0/1 99 250 135 115 0.46 intronic rs34277236 CACNA1C AU,AD NM_001167625 exon10 c.496380-63delG Uncertain 12_2659082_G->T 12 2659082 2659082 G T snp 2756.77 0/1 99 250 143 107 0.43 intronic rs11062272 CACNA1C AU,AD NM_001167625 exon10 c.496380-26G>T 0.294928 0.2202 0.283788 0.3187 0.3268 Uncertain 12_2659288_A->T 12 2659288 2659288 A T snp 361.77 0/1 99 17 6 11 0.65 intronic rs141991359 CACNA1C AU,AD NM_001167625 exon10 c.496471+89A>T 0.00139776 0.0069 Uncertain 12_2659622_G->A 12 2659622 2659622 G A snp 302.77 0/1 99 24 10 14 0.58 intronic rs12304811 CACNA1C AU,AD NM_001167625 exon10 c.496471+423G>A 0.295727 0.2192 Uncertain 12_2659848_T->C 12 2659848 2659848 T C snp 896.77 1/1 66 32 0 32 1.0 intronic rs10848675 CACNA1C AU,AD NM_001167625 exon10 c.496471+649T>C 0.905351 0.9623 0.924983 0.9520 0.9442 Uncertain 12_2675802_G->A 12 2675802 2675802 G A snp 182.77 0/1 99 15 8 7 0.47 intronic rs2283325 CACNA1C AU,AD NM_001167625 exon12 c.513020+54G>A 0.0561102 0.1339 Uncertain 12_2676683_C->T 12 2676683 2676683 C T snp 765.77 1/1 57 21 0 21 1.0 intronic rs2370602 CACNA1C AU,AD NM_001167625 exon13 c.514006-51C>T 0.86222 0.995 Uncertain 12_2690702_G->A 12 2690702 2690702 G A snp 1057.77 0/1 99 102 55 47 0.46 intronic rs11832738 CACNA1C AU,AD NM_001167625 exon14 c.528027-53G>A 0.586661 0.7252 Uncertain 12_2692186_T->G 12 2692186 2692186 T G snp 73.77 0/1 30 6 2 4 0.67 intronic rs3751254 CACNA1C AU,AD NM_001167625 exon15 c.529380+78T>G 0.632588 0.744 Uncertain 12_2694638_C->T 12 2694638 2694638 C T snp 1252.77 0/1 99 111 53 58 0.52 exonic rs215976 CACNA1C AU,AD synonymous SNV NM_000719 exon17 c.C2436T p.D812D 0.145567 0.2966 0.079136 0.1621 0.3391 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_multiple_submitters\x2c_no_conflicts;CLNACC=RCV000079283.4;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 12_2702345_G->A 12 2702345 2702345 G A snp 851.77 0/1 99 57 26 31 0.54 intronic rs141278139 CACNA1C AU,AD NM_001167625 exon19 c.539650-33G>A 0.00259585 0.0099 0.0014 0.0131 Uncertain 12_2705356_A->G 12 2705356 2705356 A G snp 985.77 0/1 99 65 29 36 0.55 intronic rs215981 CACNA1C AU,AD NM_001167625 exon20 c.542441+187A>G 0.310703 0.2966 Uncertain 12_2706720_G->C 12 2706720 2706720 G C snp 2940.77 1/1 99 109 0 109 1.0 intronic rs215983 CACNA1C AU,AD NM_001129838 exon21 c.543934+58G>C 0.951278 1 0.947876 Uncertain 12_2715958_T->C 12 2715958 2715958 T C snp 105.77 0/1 99 8 4 4 0.5 intronic rs215992 CACNA1C AU,AD NM_001167625 exon25 c.553101+129T>C 0.170327 0.3323 Uncertain 12_2716018_C->T 12 2716018 2716018 C T snp 256.77 0/1 99 16 8 8 0.5 intronic rs123263 CACNA1C AU,AD NM_001167625 exon26 c.553421-131C>T 0.254193 0.3363 Uncertain 12_2718022_C->A 12 2718022 2718022 C A snp 180.77 0/1 99 15 9 6 0.4 intronic rs2239119 CACNA1C AU,AD NM_001167625 exon27 c.555150+144C>A 0.0329473 0.1558 Uncertain 12_2720988_T->C 12 2720988 2720988 T C snp 116.77 0/1 99 9 5 4 0.44 intronic rs216007 CACNA1C AU,AD NM_001167625 exon29 c.558340-80T>C 0.261781 0.3512 Uncertain 12_2721137_C->T 12 2721137 2721137 C T snp 1282.77 0/1 99 101 44 57 0.56 exonic rs216008 CACNA1C AU,AD synonymous SNV NM_000719 exon29 c.C3786T p.F1262F 0.259185 0.3512 0.2095 0.3527 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_multiple_submitters\x2c_no_conflicts;CLNACC=RCV000079289.4;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 12_2743650_-->T 12 2743650 2743650 - T indel 270.73 0/1 99 58 16 42 0.72 intronic rs397965444 CACNA1C AU,AD NM_001167625 exon30 c.580818+104insT 0.204273 0.2272 Uncertain 12_2750893_C->T 12 2750893 2750893 C T snp 1178.77 0/1 99 90 44 46 0.51 intronic rs2239124 CACNA1C AU,AD NM_001129844 exon31 c.594912-6747C>T 0.18151 0.2183 0.1569 0.2121 Uncertain 12_2757756_T->C 12 2757756 2757756 T C snp 148.77 0/1 99 29 21 8 0.28 intronic rs2239127 CACNA1C AU,AD NM_001129844 exon31 c.594945+83T>C 0.666933 0.6766 Uncertain 12_2757769_T->C 12 2757769 2757769 T C snp 118.77 0/1 99 21 13 8 0.38 intronic rs2239128 CACNA1C AU,AD NM_001129844 exon31 c.594945+96T>C 0.666534 0.6766 Uncertain 12_2757782_C->T 12 2757782 2757782 C T snp 85.77 0/1 99 16 12 4 0.25 intronic rs2239129 CACNA1C AU,AD NM_001129844 exon31 c.594945+109C>T 0.652955 0.6746 Uncertain 12_2760708_G->A 12 2760708 2760708 G A snp 1206.77 0/1 99 100 50 50 0.5 intronic rs216045 CACNA1C AU,AD NM_001129829 exon32 c.598011-31G>A 0.670727 0.7123 0.669295 0.7515 0.7233 Uncertain 12_2760966_A->- 12 2760966 2760966 A - indel 1275.73 0/1 99 57 20 37 0.65 intronic rs34428885 CACNA1C AU,AD NM_001167625 exon31 c.598206+32delA 0.382987 0.2817 0.379245 0.3040 0.2770 Uncertain 12_2760970_G->A 12 2760970 2760970 G A snp 453.77 0/1 99 53 34 19 0.36 intronic rs1990322 CACNA1C AU,AD NM_001167625 exon31 c.598206+36G>A 0.553914 0.7173 0.566367 0.6952 0.7390 Uncertain 12_2773855_G->A 12 2773855 2773855 G A snp 43.77 0/1 72 5 3 2 0.4 intronic rs7315556 CACNA1C AU,AD NM_001167625 exon34 c.611262-135G>A 0.51877 0.6062 Uncertain 12_2774668_C->A 12 2774668 2774668 C A snp 137.77 0/1 99 13 8 5 0.38 intronic rs2302728 CACNA1C AU,AD NM_001167625 exon35 c.612018-78C>A 0.59345 0.6696 Uncertain 12_2783476_T->C 12 2783476 2783476 T C snp 414.77 0/1 99 24 9 15 0.63 intronic rs7136355 CACNA1C AU,AD NM_001129834 exon39 c.620921-173T>C 0.724641 0.6091 Uncertain 12_2788879_G->A 12 2788879 2788879 G A snp 3024.77 0/1 99 242 117 125 0.52 exonic rs1051375 CACNA1C AU,AD synonymous SNV NM_001129837 exon41 c.G5385A p.T1795T 0.526358 0.6062 0.581122 0.6953 0.6592 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_multiple_submitters\x2c_no_conflicts;CLNACC=RCV000079298.4;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 12_2791130_C->T 12 2791130 2791130 C T snp 118.77 0/1 99 9 4 5 0.56 ncRNA_intronic rs10848683 CACNA1C-AS1 AU 0.669129 0.5744 0.724757 0.7722 0.5925 0.22 T 0.0 P -0.945 T 0.002 T 0.0 T CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_multiple_submitters\x2c_no_conflicts;CLNACC=RCV000124099.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 12_2791132_A->G 12 2791132 2791132 A G snp 109.77 0/1 99 12 7 5 0.42 ncRNA_intronic rs10774053 CACNA1C-AS1 AU 0.770567 0.6081 0.819612 0.8068 0.6216 1 T 0.0 P -0.971 T 0.0 T 0.0 T CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_multiple_submitters\x2c_no_conflicts;CLNACC=RCV000124100.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 12_2791205_A->G 12 2791205 2791205 A G snp 1220.77 1/1 87 47 0 47 1.0 ncRNA_intronic rs10774054 CACNA1C-AS1 AU 1 1 0.999806 0.9999 1 0.88 T 0.0 P -0.880 T 0.0 T 0.0 T CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_multiple_submitters\x2c_no_conflicts;CLNACC=RCV000124101.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 12_2794791_T->G 12 2794791 2794791 T G snp 32.77 0/1 61 8 5 3 0.38 ncRNA_intronic rs11062315 CACNA1C-AS1 AU 0.196486 0.2897 Uncertain 12_2795255_C->T 12 2795255 2795255 C T snp 3115.77 1/1 99 121 0 121 1.0 ncRNA_intronic rs2270373 CACNA1C-AS1 AU 0.770767 0.8363 Uncertain 12_2799987_C->T 12 2799987 2799987 C T snp 351.77 0/1 99 31 17 14 0.45 ncRNA_exonic rs55830098 CACNA1C-AS1 AU 0.117013 0.2679 Uncertain 12_2851185_A->G 12 2851185 2851185 A G snp 577.77 1/1 42 23 0 23 1.0 intergenic rs12319038 CACNA1C AU,AD 0.97504 1 Uncertain 12_2851259_A->G 12 2851259 2851259 A G snp 1310.77 1/1 93 57 0 57 1.0 intergenic rs12319097 CACNA1C AU,AD 0.772165 0.7897 Uncertain 12_2851357_C->T 12 2851357 2851357 C T snp 1111.77 1/1 81 49 0 49 1.0 intergenic rs10774059 CACNA1C AU,AD 0.743211 0.7887 Uncertain 12_2851365_T->C 12 2851365 2851365 T C snp 1071.77 1/1 78 45 0 45 1.0 intergenic rs4765989 CACNA1C AU,AD 0.986821 1 Uncertain 12_2870718_A->G 12 2870718 2870718 A G snp 133.03 1/1 12 4 0 4 1.0 ncRNA_intronic rs6489392 LOC283440 AU Uncertain 12_2876636_A->G 12 2876636 2876636 A G snp 1717.77 1/1 99 66 0 66 1.0 ncRNA_exonic rs4313632 LOC283440 AU 0.717452 0.9425 0.8746 0.9552 Uncertain 12_2905367_C->T 12 2905367 2905367 C T snp 732.77 0/1 99 75 43 32 0.43 intronic rs11062358 FKBP4 AU NM_002014 exon2 c.1998-936C>T 0.219649 0.2758 Uncertain 12_2909145_C->G 12 2909145 2909145 C G snp 1332.77 0/1 99 104 51 53 0.51 intronic rs3021522 FKBP4 AU NM_002014 exon6 c.4801+39C>G 0.102436 0.2083 0.052284 0.0672 0.2150 Uncertain 12_2910237_C->G 12 2910237 2910237 C G snp 494.77 0/1 99 70 44 26 0.37 intronic rs11833878 FKBP4 AU NM_002014 exon9 c.5977-45C>G 0.210064 0.2708 0.131170 0.1720 0.2453 Uncertain 12_2926543_A->G 12 2926543 2926543 A G snp 469.77 1/1 36 12 0 12 1.0 intronic rs2286604 ITFG2 AU NM_018463 exon2 c.4558+59A>G 0.395168 0.4812 Uncertain 12_2926556_C->A 12 2926556 2926556 C A snp 161.77 0/1 63 8 2 6 0.75 intronic rs2286603 ITFG2 AU NM_018463 exon2 c.4558+72C>A 0.230032 0.2728 Uncertain 12_2930269_C->G 12 2930269 2930269 C G snp 691.77 0/1 99 63 37 26 0.41 intronic rs2286602 ITFG2 AU NM_018463 exon7 c.8501-158C>G 0.20647 0.1865 Uncertain 12_2930645_C->A 12 2930645 2930645 C A snp 295.77 0/1 99 31 21 10 0.32 intronic rs61916645 ITFG2 AU NM_018463 exon8 c.8782-63C>A 0.212859 0.1865 0.148927 Uncertain 12_2932177_G->A 12 2932177 2932177 G A snp 708.77 0/1 99 77 48 29 0.38 intronic rs2286601 ITFG2 AU NM_018463 exon10 c.10151+100G>A 0.213259 0.1865 Uncertain 12_2936276_A->G 12 2936276 2936276 A G snp 629.77 0/1 99 43 19 24 0.56 UTR3 rs3814249 NRIP2 AU 0.222045 0.2272 Uncertain 12_2936526_C->T 12 2936526 2936526 C T snp 230.77 0/1 99 18 8 10 0.56 intronic rs36095731 NRIP2 AU NM_031474 exon1 c.93+61C>T 0.117612 0.2867 Uncertain 12_2937013_G->C 12 2937013 2937013 G C snp 263.77 0/1 99 18 8 10 0.56 intronic rs4765998 NRIP2 AU NM_031474 exon3 c.719-78G>C 0.294928 0.3304 Uncertain 12_2937298_G->A 12 2937298 2937298 G A snp 1014.77 0/1 99 80 39 41 0.51 intronic rs11062370 NRIP2 AU NM_031474 exon3 c.841+85G>A 0.202276 0.1885 Uncertain 12_2944024_G->C 12 2944024 2944024 G C snp 1323.77 0/1 99 102 48 54 0.53 exonic rs35645225 NRIP2 AU synonymous SNV NM_031474 exon1 c.C126G p.P42P 0.109225 0.2917 0.048670 0.0706 0.3005 Uncertain 12_2968458_T->C 12 2968458 2968458 T C snp 5090.77 1/1 99 185 0 185 1.0 exonic rs2215292 FOXM1 AU synonymous SNV NM_001243088 exon8 c.A1593G p.R531R 0.997204 1 0.986314 0.9899 1 Uncertain 12_2973615_T->C 12 2973615 2973615 T C snp 5820.77 1/1 99 216 2 214 0.99 exonic rs2072360 FOXM1 AU synonymous SNV NM_001243088 exon7 c.A1092G p.V364V 0.26238 0.2192 0.238813 0.2267 0.1954 1.000 P -0.937 T Likely benign 12_2973862_G->A 12 2973862 2973862 G A snp 861.77 0/1 99 45 15 30 0.67 exonic FOXM1 AU synonymous SNV NM_001243088 exon6 c.C1032T p.L344L 1 D -0.872 T Likely benign 12_2994727_A->T 12 2994727 2994727 A T snp 809.77 1/1 35 24 1 23 0.96 intronic rs7310128 RHNO1 AU NM_001252499 exon2 c.168+27A>T 0.544928 0.6468 0.5173 0.6621 Uncertain 12_2996174_A->G 12 2996174 2996174 A G snp 2235.77 1/1 99 83 0 83 1.0 intronic rs2907610 RHNO1 AU NM_001252499 exon3 c.2544-902A>G 0.505591 0.6458 0.4454 0.6940 Uncertain 12_2996211_A->G 12 2996211 2996211 A G snp 2010.77 1/1 99 77 0 77 1.0 intronic rs2907609 RHNO1 AU NM_001252499 exon3 c.2544-865A>G 0.527556 0.6458 Uncertain 12_2997397_G->A 12 2997397 2997397 G A snp 4663.77 1/1 99 161 0 161 1.0 exonic rs2907608 RHNO1 AU synonymous SNV NM_001252499 exon3 c.G489A p.S163S 0.525958 0.6458 0.414501 0.4322 0.6318 Uncertain 12_3000403_T->C 12 3000403 3000403 T C snp 54.74 1/1 6 2 0 2 1.0 intronic rs2191208 TULP3 AU NM_003324 exon1 c.41+249T>C 0.536542 0.5615 Uncertain 12_3017219_A->G 12 3017219 3017219 A G snp 2725.77 1/1 99 101 0 101 1.0 intronic rs10848733 TULP3 AU NM_003324 exon2 c.18581-1475A>G 0.513379 0.5635 Uncertain 12_3018676_T->- 12 3018676 3018676 T - indel 861.73 1/1 99 37 0 37 1.0 intronic rs11305670 TULP3 AU NM_003324 exon2 c.18581-18delT 0.510982 0.5446 0.5088 0.5609 Uncertain 12_3018802_G->C 12 3018802 3018802 G C snp 2741.77 1/1 99 118 0 118 1.0 intronic rs35490316 TULP3 AU NM_003324 exon2 c.18633+56G>C 0.169329 0.2083 0.170828 Uncertain 12_3031358_T->C 12 3031358 3031358 T C snp 1539.77 1/1 99 50 0 50 1.0 intronic rs2302283 TULP3 AU NM_003324 exon4 c.31314-69T>C 0.517372 0.5625 Uncertain 12_3039319_A->G 12 3039319 3039319 A G snp 1497.77 1/1 99 47 0 47 1.0 intronic rs10848747 TULP3 AU NM_003324 exon5 c.39300-94A>G 0.517173 0.5605 Uncertain 12_3040029_C->T 12 3040029 3040029 C T snp 2093.77 1/1 99 64 0 64 1.0 intronic rs10848749 TULP3 AU NM_003324 exon6 c.40089-173C>T 0.512181 0.5595 0.5056 0.5738 Uncertain 12_3042403_T->G 12 3042403 3042403 T G snp 141.03 1/1 12 4 0 4 1.0 intronic rs11062422 TULP3 AU NM_003324 exon7 c.42470-180T>G 0.517572 0.5615 Uncertain 12_3046802_A->G 12 3046802 3046802 A G snp 2505.77 1/1 99 99 0 99 1.0 exonic rs33973716 TULP3 AU synonymous SNV NM_001160408 exon9 c.A930G p.T310T 0.221246 0.2083 0.206321 0.2422 0.1883 Uncertain 12_3046964_-->C 12 3046964 3046964 - C indel 278.76 1/1 22 10 1 9 0.9 intronic rs35398310 TULP3 AU NM_003324 exon9 c.46782+69insC Uncertain 12_3047466_G->A 12 3047466 3047466 G A snp 1936.77 1/1 99 61 0 61 1.0 intronic rs2074987 TULP3 AU NM_003324 exon10 c.47338+15G>A 0.515775 0.5615 0.471628 0.4484 0.5369 Uncertain 12_3048755_A->G 12 3048755 3048755 A G snp 54.74 1/1 6 2 0 2 1.0 UTR3 rs11062424 TULP3 AU 0.280152 0.2173 Uncertain 12_3049698_T->C 12 3049698 3049698 T C snp 7223.77 1/1 99 249 0 249 1.0 exonic rs998814 TULP3 AU nonsynonymous SNV NM_001160408 exon12 c.T1312C p.C438R 0.277356 0.2183 0.264564 0.2786 0.1938 0.11 T 0.0 P -1.063 T 0.0 T 0.0 T Pathogenic 12_3049938_C->T 12 3049938 3049938 C T snp 2526.77 1/1 99 77 0 77 1.0 UTR3 rs1047341 TULP3 AU 0.211062 0.2083 0.210907 0.2245 0.1996 Uncertain 12_3120078_C->T 12 3120078 3120078 C T snp 442.77 0/1 99 64 44 20 0.31 intronic rs2286647 TEAD4 AU NM_003213 exon4 c.16237-91C>T 0.210463 0.2173 Uncertain 12_3121159_T->C 12 3121159 3121159 T C snp 338.77 0/1 99 21 9 12 0.57 intronic rs3782837 TEAD4 AU NM_003213 exon5 c.17403-176T>C 0.275958 0.246 Uncertain 12_3127652_A->G 12 3127652 3127652 A G snp 2806.77 1/1 99 90 0 90 1.0 intronic rs2159411 TEAD4 AU NM_003213 exon7 c.23778-58A>G 0.933506 1 0.931888 Uncertain 12_3130938_A->G 12 3130938 3130938 A G snp 986.77 1/1 75 27 0 27 1.0 intronic rs4759380 TEAD4 AU NM_003213 exon10 c.27077-71A>G 0.766174 0.9762 Uncertain 12_3131206_T->C 12 3131206 3131206 T C snp 3530.77 1/1 99 129 0 129 1.0 intronic rs3741952 TEAD4 AU NM_003213 exon10 c.27251+23T>C 0.658746 0.9425 0.610257 0.7439 0.9277 Uncertain 12_3131238_A->G 12 3131238 3131238 A G snp 2249.77 1/1 99 68 0 68 1.0 intronic rs4759379 TEAD4 AU NM_003213 exon10 c.27251+55A>G 0.729633 0.9762 Uncertain 12_3147080_C->T 12 3147080 3147080 C T snp 1419.77 0/1 99 96 40 56 0.58 intronic rs3741951 TEAD4 AU NM_003213 exon11 c.43201-53C>T 0.290735 0.0516 Uncertain 12_3149483_A->G 12 3149483 3149483 A G snp 2028.77 0/1 99 154 73 81 0.53 intronic rs7294804 TEAD4 AU NM_003213 exon13 c.45598-47A>G 0.640375 0.9454 0.581885 0.7089 0.9360 Uncertain 12_3310439_C->T 12 3310439 3310439 C T snp 2732.77 1/1 99 107 0 107 1.0 intronic rs740776 TSPAN9 AU NM_001168320 exon2 c.63+17C>T 0.538938 0.6786 0.525527 0.5847 0.6450 Uncertain 12_3310482_C->G 12 3310482 3310482 C G snp 1977.77 1/1 99 78 0 78 1.0 intronic rs740775 TSPAN9 AU NM_001168320 exon2 c.63+60C>G 0.596845 0.6776 0.589575 Uncertain 12_3315433_A->G 12 3315433 3315433 A G snp 2128.77 0/1 99 212 119 93 0.44 intronic rs2058243 TSPAN9 AU NM_001168320 exon2 c.63+5011A>G 0.714058 0.8333 0.5709 0.8041 Uncertain 12_3407208_G->A 12 3407208 3407208 G A snp 139.03 1/1 12 4 0 4 1.0 intergenic rs1122563 TSPAN9 AU 0.480431 0.6101 Uncertain 12_3408970_A->G 12 3408970 3408970 A G snp 99.28 1/1 9 3 0 3 1.0 intergenic rs1465264 TSPAN9 AU 0.775359 0.8869 Uncertain 12_3409277_C->T 12 3409277 3409277 C T snp 5285.77 1/1 99 191 0 191 1.0 intergenic rs7306401 TSPAN9 AU 0.996805 1 0.9973 1 Uncertain 12_3409384_TTT->- 12 3409384 3409386 TTT - indel 499.74 1/1 30 15 0 15 1.0 intergenic rs398055265 TSPAN9 AU 0.791733 0.8849 Uncertain 12_3490820_T->C 12 3490820 3490820 T C snp 554.77 1/1 42 14 0 14 1.0 intronic rs10848860 PRMT8 AU NM_001256536 exon1 c.48+212T>C 0.616014 0.8938 Uncertain 12_3600967_T->C 12 3600967 3600967 T C snp 463.77 1/1 36 14 0 14 1.0 ncRNA_intronic rs757609 LOC100129223 AU 0.976038 1 Uncertain 12_3647766_C->T 12 3647766 3647766 C T snp 890.77 0/1 99 88 47 41 0.47 intronic rs3741938 PRMT8 AU NM_019854 exon2 c.48980-2005C>T 0.313698 0.5248 Uncertain 12_3650156_T->C 12 3650156 3650156 T C snp 56.74 1/1 6 2 0 2 1.0 intronic rs10744619 PRMT8 AU NM_019854 exon2 c.49166+199T>C 0.984425 1 Uncertain 12_3701390_C->T 12 3701390 3701390 C T snp 2985.77 0/1 99 250 122 128 0.51 intronic rs3741935 PRMT8 AU NM_019854 exon9 c.100605-6C>T 0.0880591 0.0149 0.138013 0.1245 0.0245 Uncertain 12_3702219_A->G 12 3702219 3702219 A G snp 1818.77 1/1 99 62 0 62 1.0 intronic rs4765741 PRMT8 AU NM_019854 exon10 c.101473-45A>G 0.636981 0.5665 0.702983 0.6552 0.5612 Uncertain 12_3724757_C->T 12 3724757 3724757 C T snp 95.77 0/1 99 10 6 4 0.4 intronic rs56172341 CRACR2A AU NM_001144958 exon1 c.85+152C>T 0.0399361 0.002 Uncertain 12_3725866_A->C 12 3725866 3725866 A C snp 857.77 0/1 99 69 30 39 0.57 intronic rs4766146 CRACR2A AU NM_001144958 exon2 c.1599-253A>C 0.0445288 0.002 Uncertain 12_3725967_C->T 12 3725967 3725967 C T snp 475.77 0/1 99 30 12 18 0.6 intronic rs4766147 CRACR2A AU NM_001144958 exon2 c.1599-152C>T 0.0399361 0.002 Uncertain 12_3728284_A->G 12 3728284 3728284 A G snp 228.77 0/1 87 11 4 7 0.64 intronic rs17770223 CRACR2A AU NM_001144958 exon3 c.3916-152A>G 0.0399361 0.002 Uncertain 12_3728397_T->C 12 3728397 3728397 T C snp 1891.77 0/1 99 185 104 81 0.44 intronic rs17770235 CRACR2A AU NM_001144958 exon3 c.3916-39T>C 0.0399361 0.002 0.073368 0.0600 0 Uncertain 12_3728689_G->T 12 3728689 3728689 G T snp 172.77 0/1 99 14 8 6 0.43 intronic rs10437826 CRACR2A AU NM_001144958 exon3 c.4018+151G>T 0.601637 0.6022 Uncertain 12_3736527_A->G 12 3736527 3736527 A G snp 1323.77 0/1 99 79 33 46 0.58 intronic rs56082948 CRACR2A AU NM_001144958 exon4 c.12081-74A>G 0.052516 0.002 Uncertain 12_3736734_C->T 12 3736734 3736734 C T snp 3237.77 0/1 99 249 117 132 0.53 intronic rs10848893 CRACR2A AU NM_001144958 exon4 c.12196+18C>T 0.343051 0.3889 0.292159 0.2570 0.3669 Uncertain 12_3736745_T->C 12 3736745 3736745 T C snp 7470.77 1/1 99 248 2 246 0.99 intronic rs10848894 CRACR2A AU NM_001144958 exon4 c.12196+29T>C 0.696685 0.6329 0.676960 0.6633 0.5909 Uncertain 12_3736940_C->T 12 3736940 3736940 C T snp 400.77 0/1 99 29 13 16 0.55 intronic rs17836183 CRACR2A AU NM_001144958 exon5 c.12352+68C>T 0.179712 0.3075 Uncertain 12_3736990_A->C 12 3736990 3736990 A C snp 37.77 0/1 66 6 4 2 0.33 intronic rs73045274 CRACR2A AU NM_001144958 exon5 c.12352+118A>C 0.0561102 0.002 Uncertain 12_3750070_T->C 12 3750070 3750070 T C snp 382.77 0/1 99 20 8 12 0.6 intronic rs4766151 CRACR2A AU NM_001144958 exon8 c.26377-827T>C 0.815895 0.9633 Uncertain 12_3750109_A->T 12 3750109 3750109 A T snp 50.74 1/1 6 2 0 2 1.0 intronic rs11062747 CRACR2A AU NM_001144958 exon8 c.26377-788A>T 0.238219 0.4077 Uncertain 12_3751046_T->C 12 3751046 3751046 T C snp 2986.77 0/1 99 243 118 125 0.51 intronic rs7297853 CRACR2A AU NM_001144958 exon8 c.26484+42T>C 0.745008 0.8849 0.639290 0.7144 0.8585 Uncertain 12_3751212_G->T 12 3751212 3751212 G T snp 617.77 1/1 48 17 0 17 1.0 intronic rs10744621 CRACR2A AU NM_001144958 exon8 c.26484+208G>T 0.841653 0.9206 Uncertain 12_3753975_T->G 12 3753975 3753975 T G snp 729.77 1/1 54 22 0 22 1.0 intronic rs7975304 CRACR2A AU NM_001144958 exon9 c.29286+169T>G 0.925719 1 Uncertain 12_3757548_T->C 12 3757548 3757548 T C snp 1907.77 1/1 99 63 0 63 1.0 UTR3 rs887304 CRACR2A AU 0.859425 0.9911 Uncertain 12_3768705_C->A 12 3768705 3768705 C A snp 320.77 0/1 99 54 38 16 0.3 intronic rs10848906 CRACR2A AU NM_032680 exon4 c.11092-24C>A 0.242013 0.3948 0.214209 0.2674 0.4255 Uncertain 12_3787956_A->C 12 3787956 3787956 A C snp 1042.77 1/1 75 33 0 33 1.0 intronic rs242019 CRACR2A AU NM_032680 exon6 c.30443-124A>C 1 1 Uncertain 12_3788145_C->T 12 3788145 3788145 C T snp 2146.77 0/1 99 157 74 83 0.53 exonic rs242018 CRACR2A AU nonsynonymous SNV NM_001144958 exon6 c.G460A p.E154K 0.222444 0.1319 0.245656 0.2696 0.1417 0.25 T 0.0 P -1.046 T 0.039 T 0.003 T Pathogenic 12_3788188_C->T 12 3788188 3788188 C T snp 1798.77 0/1 99 153 81 72 0.47 exonic rs3803135 CRACR2A AU synonymous SNV NM_001144958 exon6 c.G417A p.K139K 0.154952 0.128 0.119637 0.1505 0.1409 Uncertain 12_3788222_G->A 12 3788222 3788222 G A snp 1750.77 0/1 99 155 83 72 0.46 exonic rs242017 CRACR2A AU nonsynonymous SNV NM_001144958 exon6 c.C383T p.A128V 0.226637 0.1319 0.253345 0.2762 0.1415 0.52 T 0.0 P -1.029 T 0.514 P 0.167 P Pathogenic 12_3789452_C->T 12 3789452 3789452 C T snp 1133.77 0/1 99 91 44 47 0.52 exonic rs17836273 CRACR2A AU nonsynonymous SNV NM_001144958 exon5 c.G292A p.A98T 0.155351 0.128 0.119945 0.1509 0.1410 0.6 T 0.994 P -1.092 T 0.243 T 0.078 T Pathogenic 12_3789562_G->C 12 3789562 3789562 G C snp 426.77 0/1 99 24 9 15 0.63 intronic rs61537702 CRACR2A AU NM_032680 exon7 c.31878+47G>C 0.158347 0.128 0.030832 0.1522 0.1448 Uncertain 12_3789563_G->A 12 3789563 3789563 G A snp 428.77 0/1 99 24 9 15 0.63 intronic rs57335133 CRACR2A AU NM_032680 exon7 c.31878+48G>A 0.158546 0.128 0.029140 0.1518 0.1441 Uncertain 12_3789607_T->G 12 3789607 3789607 T G snp 195.77 0/1 63 10 3 7 0.7 intronic rs17780600 CRACR2A AU NM_032680 exon7 c.31878+92T>G 0.158546 0.128 Uncertain 12_3806147_T->C 12 3806147 3806147 T C snp 1459.77 0/1 99 130 72 58 0.45 exonic rs9788233 CRACR2A AU nonsynonymous SNV NM_001144958 exon4 c.A19G p.R7G 0.162939 0.1835 0.098877 0.1730 0.2346 0.05 T 0.0 P -1.083 T 0.035 T 0.04 T Pathogenic 12_3948550_A->G 12 3948550 3948550 A G snp 1292.77 0/1 99 90 46 44 0.49 intronic rs12319851 PARP11 AU NM_020367 exon7 c.17896+9366A>G 0.403554 0.4226 Uncertain 12_3948718_G->A 12 3948718 3948718 G A snp 3286.77 0/1 99 250 117 133 0.53 intronic rs3809251 PARP11 AU NM_020367 exon7 c.17896+9534G>A 0.934105 0.8829 Uncertain 12_3950977_T->C 12 3950977 3950977 T C snp 2017.77 0/1 99 192 107 85 0.44 intronic rs7295047 PARP11 AU NM_020367 exon7 c.17896+11793T>C 0.433906 0.5774 Uncertain 12_3982657_A->G 12 3982657 3982657 A G snp 1388.77 1/1 99 41 0 41 1.0 upstream rs4766179 PARP11 AU 0.969249 1 Uncertain 12_3982707_C->T 12 3982707 3982707 C T snp 33.77 0/1 62 4 2 2 0.5 upstream rs4765757 PARP11 AU 0.277157 0.3978 Uncertain 12_4383158_T->C 12 4383158 4383158 T C snp 600.77 1/1 45 15 0 15 1.0 ncRNA_intronic rs3217786 CCND2-AS1 AU 0.970647 1 0.976109 0.9925 1 Uncertain 12_4406836_C->A 12 4406836 4406836 C A snp 327.77 0/1 99 18 7 11 0.61 intronic rs3217907 CCND2 AD NM_001759 exon5 c.25819-2189C>A 0.347644 0.3601 Uncertain 12_4406861_G->T 12 4406861 4406861 G T snp 618.77 0/1 99 41 18 23 0.56 intronic CCND2 AD NM_001759 exon5 c.25819-2164G>T Uncertain 12_4406885_G->A 12 4406885 4406885 G A snp 967.77 0/1 99 69 35 34 0.49 intronic rs76944793 CCND2 AD NM_001759 exon5 c.25819-2140G>A 0.0341454 0.1062 0.0301 0.25 Uncertain 12_4406887_A->G 12 4406887 4406887 A G snp 997.77 0/1 99 71 36 35 0.49 intronic rs78875656 CCND2 AD NM_001759 exon5 c.25819-2138A>G 0.034345 0.1071 0.0407 0.4167 Uncertain 12_4406979_C->A 12 4406979 4406979 C A snp 1861.77 0/1 99 139 59 80 0.58 intronic rs80098540 CCND2 AD NM_001759 exon5 c.25819-2046C>A 0.0227636 0.1071 0.0048 0.125 0.0 P -1.038 T Uncertain 12_4407061_T->C 12 4407061 4407061 T C snp 1674.77 0/1 99 130 63 67 0.52 intronic rs80021471 CCND2 AD NM_001759 exon5 c.25819-1964T>C 0.0227636 0.1071 0.0057 0.1333 Uncertain 12_4407166_A->G 12 4407166 4407166 A G snp 944.77 0/1 99 83 45 38 0.46 intronic rs74612037 CCND2 AD NM_001759 exon5 c.25819-1859A>G 0.0227636 0.1071 Uncertain 12_4407237_G->C 12 4407237 4407237 G C snp 203.77 0/1 99 26 17 9 0.35 intronic rs76626715 CCND2 AD NM_001759 exon5 c.25819-1788G>C 0.0219649 0.1062 Uncertain 12_4408916_A->C 12 4408916 4408916 A C snp 761.77 0/1 99 60 30 30 0.5 intronic rs3217918 CCND2 AD NM_001759 exon5 c.25819-109A>C 0.0223642 0.1071 Uncertain 12_4430547_C->T 12 4430547 4430547 C T snp 4954.77 1/1 99 186 0 186 1.0 intronic rs10774222 C12orf5 AU NM_020375 exon1 c.32+78C>T 0.834065 0.9732 0.827201 Uncertain 12_4430561_C->G 12 4430561 4430561 C G snp 1402.77 0/1 99 149 88 61 0.41 intronic rs11063080 C12orf5 AU NM_020375 exon1 c.32+92C>G 0.289936 0.249 Uncertain 12_4446116_T->C 12 4446116 4446116 T C snp 474.77 0/1 99 24 9 15 0.63 intronic rs7296163 C12orf5 AU NM_020375 exon3 c.15767-88T>C 0.316494 0.3581 Uncertain 12_4461485_G->A 12 4461485 4461485 G A snp 1354.77 0/1 99 121 68 53 0.44 exonic rs7133330 C12orf5 AU synonymous SNV NM_020375 exon6 c.G441A p.A147A 0.183307 0.1577 0.214978 0.2357 0.1380 Uncertain 12_4488368_CA->- 12 4488368 4488369 CA - indel 399.73 1/1 33 11 0 11 1.0 intronic rs3045697 FGF23 AU,AD,AR NM_020638 exon3 c.9029-169_9029-168delCA Uncertain 12_4537658_G->A 12 4537658 4537658 G A snp 1585.77 1/1 99 59 0 59 1.0 intergenic rs2970806 FGF23 AU,AD,AR 0.616613 0.8155 Uncertain 12_4543361_G->A 12 4543361 4543361 G A snp 573.77 0/1 99 46 21 25 0.54 UTR3 rs2241286 FGF6 AU 0.0439297 0.2073 0.001461 0.0214 0.2336 Uncertain 12_4553518_T->C 12 4553518 4553518 T C snp 373.77 1/1 30 10 0 10 1.0 intronic rs2241278 FGF6 AU NM_020996 exon2 c.10022+116T>C 0.677716 0.5893 Uncertain 12_4553523_C->T 12 4553523 4553523 C T snp 301.78 1/1 24 8 0 8 1.0 intronic rs2241277 FGF6 AU NM_020996 exon2 c.10022+121C>T 0.677516 0.5883 Uncertain 12_4554548_G->C 12 4554548 4554548 G C snp 8368.77 1/1 99 250 0 250 1.0 exonic rs7358740 FGF6 AU synonymous SNV NM_020996 exon1 c.C189G p.A63A 0.903155 1 0.905582 0.9721 0.9999 Uncertain 12_4628080_G->A 12 4628080 4628080 G A snp 363.77 0/1 99 33 18 15 0.45 intronic rs149321520 C12orf4 AU NM_020374 exon8 c.29074+34G>A 0.00399361 0.0169 0.0016 0.0195 Uncertain 12_4671429_G->T 12 4671429 4671429 G T snp 1491.77 0/1 99 146 73 73 0.5 intergenic rs34206253 RAD51AP1 AU 0.272564 0.2232 0.3382 0.2397 Uncertain 12_4671490_G->A 12 4671490 4671490 G A snp 1443.77 0/1 99 141 70 71 0.5 intergenic rs740059 RAD51AP1 AU 0.52516 0.8105 0.5822 0.8165 Uncertain 12_4671611_C->G 12 4671611 4671611 C G snp 294.77 0/1 99 24 14 10 0.42 intergenic rs7306848 RAD51AP1 AU 0.261382 0.1508 Uncertain 12_4671612_G->A 12 4671612 4671612 G A snp 298.77 0/1 99 22 12 10 0.45 intergenic rs7305896 RAD51AP1 AU 0.261382 0.1508 Uncertain 12_4672096_A->G 12 4672096 4672096 A G snp 330.77 0/1 99 21 9 12 0.57 intergenic rs7295624 RAD51AP1 AU 0.310104 0.2014 Uncertain 12_4672394_T->G 12 4672394 4672394 T G snp 923.77 0/1 99 82 46 36 0.44 intergenic rs7299185 RAD51AP1 AU 0.333267 0.2004 Uncertain 12_4676899_C->G 12 4676899 4676899 C G snp 117.77 0/1 99 7 3 4 0.57 intergenic rs10849094 RAD51AP1 AU 0.0856629 0.1359 Uncertain 12_4697987_A->T 12 4697987 4697987 A T snp 775.77 1/1 57 25 0 25 1.0 intergenic rs2041295 RAD51AP1 AU 0.673922 0.7421 Uncertain 12_4697991_A->G 12 4697991 4697991 A G snp 819.77 1/1 60 25 0 25 1.0 intergenic rs2041294 RAD51AP1 AU 0.673922 0.7421 Uncertain 12_4697992_T->G 12 4697992 4697992 T G snp 801.77 1/1 60 26 0 26 1.0 intergenic rs2041293 RAD51AP1 AU 0.673922 0.7421 Uncertain 12_4700221_G->T 12 4700221 4700221 G T snp 1775.77 1/1 99 62 0 62 1.0 intronic rs2302248 DYRK4 AU 0.662141 0.748 Uncertain 12_4705317_C->T 12 4705317 4705317 C T snp 1656.77 1/1 99 60 0 60 1.0 exonic rs3741925 DYRK4 AU synonymous SNV NM_003845 exon5 c.C285T p.V95V 0.236222 0.3135 0.227433 0.2787 0.3354 Uncertain 12_4708150_T->A 12 4708150 4708150 T A snp 1056.77 1/1 78 30 0 30 1.0 intronic rs3741926 DYRK4 AU NM_003845 exon7 c.7847-43T>A 0.305312 0.3155 0.318007 0.3200 0.3387 Uncertain 12_4708436_-->TTTTG 12 4708436 4708436 - TTTTG indel 916.73 1/1 69 31 0 31 1.0 intronic rs375183364 DYRK4 AU NM_003845 exon7 c.7986+104insTTTTG Uncertain 12_4714008_T->G 12 4714008 4714008 T G snp 2362.77 1/1 99 71 0 71 1.0 intronic rs2286576 DYRK4 AU NM_003845 exon9 c.13733-71T>G 0.699681 0.8631 Uncertain 12_4716316_G->A 12 4716316 4716316 G A snp 482.77 0/1 99 30 12 18 0.6 intronic rs541587915 DYRK4 AU NM_001282286 exon2 c.2336-176G>A 0.000798722 0.004 Uncertain 12_4725134_G->A 12 4725134 4725134 G A snp 2832.77 1/1 99 87 0 87 1.0 intronic rs7301885 AKAP3 AU NM_001278309 exon1 c.156+74G>A 0.980631 1 Uncertain 12_4735737_A->G 12 4735737 4735737 A G snp 3213.77 1/1 99 116 0 116 1.0 exonic rs2072358 AKAP3 AU synonymous SNV NM_001278309 exon5 c.T2331C p.L777L 0.264177 0.3621 0.247886 0.3005 0.3994 Uncertain 12_4736495_C->T 12 4736495 4736495 C T snp 3191.82 1/1 99 98 0 98 1.0 exonic rs1990312 AKAP3 AU nonsynonymous SNV NM_001278309 exon5 c.G1573A p.E525K 0.982827 1 0.977011 0.9942 1 1 T 0.000 P -0.985 T 0.0 T 0.0 T Pathogenic 12_4736631_A->G 12 4736631 4736631 A G snp 6788.77 1/1 99 244 0 244 1.0 exonic rs11063265 AKAP3 AU synonymous SNV NM_001278309 exon5 c.T1437C p.F479F 0.982827 1 0.976857 0.9942 1 Uncertain 12_4736677_G->C 12 4736677 4736677 G C snp 7344.77 1/1 99 250 0 250 1.0 exonic rs11063266 AKAP3 AU nonsynonymous SNV NM_001278309 exon5 c.C1391G p.T464S 0.911542 0.9147 0.949100 0.9626 0.9319 0.59 T 0.0 P -0.971 T 0.001 T 0.002 T Pathogenic 12_4736690_A->G 12 4736690 4736690 A G snp 7186.77 1/1 99 250 0 250 1.0 exonic rs10774251 AKAP3 AU synonymous SNV NM_001278309 exon5 c.T1378C p.L460L 0.972644 1 0.967169 0.9897 1 Uncertain 12_4737318_A->G 12 4737318 4737318 A G snp 6078.77 1/1 99 214 2 212 0.99 exonic rs7960207 AKAP3 AU synonymous SNV NM_001278309 exon5 c.T750C p.N250N 0.817492 0.7391 0.878671 0.9097 0.7211 Uncertain 12_4737459_C->T 12 4737459 4737459 C T snp 6457.77 1/1 99 215 0 215 1.0 exonic rs2072356 AKAP3 AU synonymous SNV NM_001278309 exon5 c.G609A p.S203S 0.707268 0.6637 0.738044 0.7756 0.6599 Uncertain 12_4737715_C->T 12 4737715 4737715 C T snp 6222.77 1/1 99 221 1 220 1.0 exonic rs2072355 AKAP3 AU nonsynonymous SNV NM_001278309 exon5 c.G353A p.G118E 0.705471 0.6538 0.737967 0.7750 0.6507 1 T 0.0 P -0.932 T 0.0 T 0.001 T Pathogenic 12_4740296_T->C 12 4740296 4740296 T C snp 133.03 1/1 12 4 0 4 1.0 intronic rs11063269 AKAP3 AU NM_001278309 exon2 c.13067+2325T>C 0.256989 0.3621 Uncertain 12_4758188_G->C 12 4758188 4758188 G C snp 1785.77 1/1 99 63 0 63 1.0 UTR5 rs714621 AKAP3 AU 0.40016 0.3671 Uncertain 12_4763349_C->T 12 4763349 4763349 C T snp 262.8 1/1 21 7 0 7 1.0 intronic rs2302247 NDUFA9 AR,AO NM_005002 exon2 c.5165-108C>T 0.451877 0.4355 Uncertain 12_4763781_CA->- 12 4763781 4763782 CA - indel 916.73 1/1 60 23 0 23 1.0 intronic rs3217056 NDUFA9 AR,AO NM_005002 exon2 c.5336+153_5336+154delCA 0.448283 0.4315 Uncertain 12_4766798_T->C 12 4766798 4766798 T C snp 133.03 1/1 12 4 0 4 1.0 intronic rs6489557 NDUFA9 AR,AO NM_005002 exon4 c.8621-115T>C 0.952276 1 Uncertain 12_4768103_G->A 12 4768103 4768103 G A snp 50.74 1/1 6 2 0 2 1.0 intronic rs4766268 NDUFA9 AR,AO NM_005002 exon5 c.9909-98G>A 0.980232 1 Uncertain 12_4768354_A->C 12 4768354 4768354 A C snp 1209.77 1/1 87 43 0 43 1.0 intronic rs7972657 NDUFA9 AR,AO NM_005002 exon5 c.10051+11A>C 0.70607 0.7956 0.633728 0.7186 0.8126 CLINSIG=non-pathogenic;CLNDBN=not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000127112.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Uncertain 12_4768437_C->T 12 4768437 4768437 C T snp 857.77 1/1 63 27 0 27 1.0 intronic rs7958182 NDUFA9 AR,AO NM_005002 exon5 c.10051+94C>T 0.727835 0.7956 Uncertain 12_4771682_G->A 12 4771682 4771682 G A snp 2950.77 1/1 99 107 0 107 1.0 intronic rs2267549 NDUFA9 AR,AO NM_005002 exon6 c.13406-16G>A 0.346845 0.3204 0.368984 0.4251 0.3475 CLINSIG=non-pathogenic;CLNDBN=not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000127113.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Uncertain 12_4791662_C->A 12 4791662 4791662 C A snp 210.84 1/1 18 6 0 6 1.0 intronic rs1029767 NDUFA9 AR,AO NM_005002 exon9 c.33174+196C>A 0.296326 0.4623 Uncertain 12_4794351_A->G 12 4794351 4794351 A G snp 1573.77 1/1 99 53 0 53 1.0 intronic rs2240760 NDUFA9 AR,AO NM_005002 exon10 c.36132-73A>G 0.381989 0.4891 0.4172 0.5260 0.26 T 0.0 P -0.981 T Uncertain 12_4794536_C->T 12 4794536 4794536 C T snp 639.77 0/1 99 53 25 28 0.53 intronic rs145777379 NDUFA9 AR,AO NM_005002 exon10 c.36199+45C>T 0.00479233 0.0238 0.000231 0.0020 0.0261 Uncertain 12_4853898_A->G 12 4853898 4853898 A G snp 712.77 0/1 99 68 37 31 0.46 intronic rs17783505 GALNT8 AU NM_017417 exon4 c.24023+32A>G 0.095647 0.1895 0.035445 0.0660 0.2105 Uncertain 12_4853915_T->C 12 4853915 4853915 T C snp 699.77 0/1 99 58 30 28 0.48 intronic rs12312983 GALNT8 AU NM_017417 exon4 c.24023+49T>C 0.0816693 0.1895 0.0603 0.2073 Uncertain 12_4854539_-->C 12 4854539 4854539 - C indel 377.73 0/1 99 24 11 13 0.54 intronic rs34073667 GALNT8 AU NM_017417 exon5 c.24751-55insC 0.291733 0.4147 Uncertain 12_4872772_A->G 12 4872772 4872772 A G snp 40.77 0/1 69 5 3 2 0.4 intronic rs12423097 GALNT8 AU NM_017417 exon8 c.42713+216A>G 0.0884585 0.1905 Uncertain 12_4919267_A->G 12 4919267 4919267 A G snp 1826.77 0/1 99 164 78 86 0.52 exonic rs758534 KCNA6 AU synonymous SNV NM_002235 exon1 c.A60G p.G20G 0.447085 0.4395 0.414008 0.4368 0.4247 Uncertain 12_4959874_T->C 12 4959874 4959874 T C snp 1867.77 0/1 99 164 85 79 0.48 intronic rs10774275 KCNA6 AU NM_002235 exon2 c.40696-29T>C 0.723442 0.5704 0.7057 0.6061 Uncertain 12_5021984_T->A 12 5021984 5021984 T A snp 5346.77 1/1 99 189 0 189 1.0 exonic rs4766309 KCNA1 AD synonymous SNV NM_000217 exon2 c.T1440A p.T480T 0.820487 0.9623 0.742503 0.7385 0.9627 Uncertain 12_5154462_T->C 12 5154462 5154462 T C snp 6692.77 1/1 99 229 0 229 1.0 exonic rs2359641 KCNA5 AD synonymous SNV NM_002234 exon1 c.T1149C p.G383G 0.98103 0.996 0.984699 0.9954 0.9946 Uncertain 12_5603632_G->A 12 5603632 5603632 G A snp 3198.81 0/1 99 250 129 121 0.48 exonic rs6332 NTF3 AU synonymous SNV NM_002527 exon1 c.G252A p.P84P 0.488219 0.4583 0.516838 0.4907 0.4678 Uncertain 12_5674693_G->A 12 5674693 5674693 G A snp 825.77 0/1 99 92 54 38 0.41 intronic rs3825277 ANO2 AU NM_001278597 exon2 c.2259-30G>A 0.0415335 0.0942 0.000736 0.0355 0.1470 ID=COSN164118;OCCURENCE=1(breast) Uncertain 12_5721962_A->G 12 5721962 5721962 A G snp 2078.77 1/1 99 65 0 65 1.0 intronic rs3741837 ANO2 AU NM_001278597 exon7 c.49458+40A>G 0.808706 0.7996 0.827250 0.7949 0.7981 Uncertain 12_5756783_C->G 12 5756783 5756783 C G snp 1030.77 1/1 75 36 0 36 1.0 intronic rs2277400 ANO2 AU NM_001278597 exon11 c.84428-109C>G 0.398363 0.6845 Uncertain 12_5756824_C->T 12 5756824 5756824 C T snp 2416.77 1/1 99 88 0 88 1.0 intronic rs367978 ANO2 AU NM_001278597 exon11 c.84428-68C>T 0.753794 0.7262 Uncertain 12_5841841_G->C 12 5841841 5841841 G C snp 6172.77 1/1 99 224 0 224 1.0 intronic rs2277401 ANO2 AU NM_001278597 exon12 c.169332+45G>C 0.395367 0.5665 0.358652 0.4508 0.5734 Uncertain 12_5848953_C->T 12 5848953 5848953 C T snp 694.77 0/1 99 59 31 28 0.47 intronic rs17195410 ANO2 AU NM_001278597 exon14 c.176101+388C>T 0.126797 0.1438 Uncertain 12_5860179_T->C 12 5860179 5860179 T C snp 185.77 0/1 99 16 8 8 0.5 intronic rs2277402 ANO2 AU NM_001278597 exon16 c.187672+43T>C 0.378594 0.631 0.347980 0.4640 0.6326 Uncertain 12_5916350_G->A 12 5916350 5916350 G A snp 350.77 0/1 99 36 21 15 0.42 intronic rs2277403 ANO2 AU NM_001278597 exon19 c.244014-128G>A 0.385184 0.5109 Uncertain 12_5961048_G->A 12 5961048 5961048 G A snp 4213.77 1/1 99 155 0 155 1.0 intronic rs7485945 ANO2 AU NM_001278597 exon23 c.290743-2159G>A 0.934704 1 0.928384 Uncertain 12_6030154_G->A 12 6030154 6030154 G A snp 585.77 0/1 99 58 32 26 0.45 intronic rs3825331 ANO2 AU NM_001278597 exon24 c.357741-51G>A 0.147564 0.1855 Uncertain 12_6030165_G->A 12 6030165 6030165 G A snp 653.77 0/1 99 68 38 30 0.44 intronic rs3825332 ANO2 AU NM_001278597 exon24 c.357741-40G>A 0.145367 0.1855 0.161743 0.1732 0.1901 Uncertain 12_6030302_T->C 12 6030302 6030302 T C snp 1566.77 0/1 99 132 64 68 0.52 exonic rs3741902 ANO2 AU synonymous SNV NM_001278596 exon3 c.A438G p.G146G 0.147364 0.1855 0.160345 0.1768 0.1902 Uncertain 12_6030405_A->G 12 6030405 6030405 A G snp 2222.77 0/1 99 162 68 94 0.58 exonic rs3741903 ANO2 AU nonsynonymous SNV NM_001278596 exon3 c.T335C p.V112A 0.15655 0.1915 0.160163 0.1811 0.1921 1 T 0.0 P -1.062 T 0.0 T 0.0 T Pathogenic 12_6030437_A->G 12 6030437 6030437 A G snp 2255.77 0/1 99 191 89 102 0.53 exonic rs3741904 ANO2 AU synonymous SNV NM_001278596 exon3 c.T303C p.Y101Y 0.0946486 0.1855 0.047869 0.0810 0.1916 Uncertain 12_6032129_A->G 12 6032129 6032129 A G snp 124.77 0/1 66 7 2 5 0.71 intronic rs12817045 ANO2 AU NM_001278597 exon25 c.359506+159A>G 0.633986 0.7897 Uncertain 12_6032138_A->G 12 6032138 6032138 A G snp 122.77 0/1 66 6 2 4 0.67 intronic rs12817050 ANO2 AU NM_001278597 exon25 c.359506+168A>G 0.638778 0.7897 Uncertain 12_6054277_G->A 12 6054277 6054277 G A snp 4614.77 1/1 99 185 1 184 0.99 intronic rs6416321 ANO2 AU NM_001278596 exon26 c.381897-84G>A 0.365815 0.628 Uncertain 12_6054395_A->G 12 6054395 6054395 A G snp 3836.77 1/1 99 134 0 134 1.0 UTR5 rs6489680 ANO2 AU 0.811502 0.8383 0.8953 0.8333 Uncertain 12_6055132_T->G 12 6055132 6055132 T G snp 2114.77 1/1 99 67 0 67 1.0 intronic rs6489682 ANO2 AU NM_001278597 exon26 c.382852-184T>G 0.819089 0.9792 Uncertain 12_6085513_A->G 12 6085513 6085513 A G snp 1395.77 1/1 99 50 0 50 1.0 intronic rs216855 VWF AR,AD NM_000552 exon10 c.27246+87A>G 0.707668 0.8968 Uncertain 12_6091000_A->G 12 6091000 6091000 A G snp 4953.77 1/1 99 180 0 180 1.0 exonic rs216867 VWF AR,AD synonymous SNV NM_000552 exon42 c.T7239C p.T2413T 0.82508 0.9028 0.843918 0.8687 0.9324 Uncertain 12_6091164_G->A 12 6091164 6091164 G A snp 1173.77 1/1 87 33 0 33 1.0 intronic rs216868 VWF AR,AD NM_000552 exon11 c.32977+7G>A 0.303315 0.4831 0.249731 0.3354 0.5013 Uncertain 12_6092642_G->C 12 6092642 6092642 G C snp 56.74 1/1 6 2 0 2 1.0 intronic rs558805 VWF AR,AD NM_000552 exon12 c.34240+222G>C Uncertain 12_6094082_G->A 12 6094082 6094082 G A snp 139.03 1/1 12 4 0 4 1.0 intronic rs24177 VWF AR,AD NM_000552 exon13 c.36030-128G>A 0.307907 0.4871 Uncertain 12_6094845_G->A 12 6094845 6094845 G A snp 2635.77 1/1 99 98 0 98 1.0 intronic rs177702 VWF AR,AD NM_000552 exon14 c.36651+14G>A 0.700679 0.6607 0.767107 0.7756 0.6874 Uncertain 12_6105387_G->A 12 6105387 6105387 G A snp 949.77 1/1 69 30 0 30 1.0 exonic rs216902 VWF AR,AD synonymous SNV NM_000552 exon35 c.C5844T p.C1948C 0.45607 0.7252 0.356066 0.4577 0.7460 Uncertain 12_6120752_G->A 12 6120752 6120752 G A snp 450.77 0/1 99 36 19 17 0.47 intronic rs190444179 VWF AR,AD NM_000552 exon19 c.62602-30G>A 0.00159744 0.0011 0 Uncertain 12_6121078_C->T 12 6121078 6121078 C T snp 765.77 1/1 57 36 0 36 1.0 intronic rs216305 VWF AR,AD NM_000552 exon19 c.62780+118C>T 0.634585 0.6419 Uncertain 12_6127535_T->G 12 6127535 6127535 T G snp 129.77 0/1 99 23 14 9 0.39 exonic rs200368994 VWF AR,AD synonymous SNV NM_000552 exon28 c.A5049C p.A1683A Uncertain 12_6127943_A->G 12 6127943 6127943 A G snp 1908.77 1/1 99 74 2 72 0.97 exonic rs216310 VWF AR,AD synonymous SNV NM_000552 exon28 c.T4641C p.T1547T 0.776558 0.746 0.6852 0.7582 Uncertain 12_6128443_T->C 12 6128443 6128443 T C snp 3179.76 1/1 99 116 0 116 1.0 exonic rs216311 VWF AR,AD nonsynonymous SNV NM_000552 exon28 c.A4141G p.T1381A 0.775559 0.746 0.708673 0.6798 0.7615 1 T 0.0 P -0.970 T 0.0 T 0.001 T ID=CM074634;DIS=Increased affinity for GPIb alpha;TAG=FP;PUB=17598011 FP Pathogenic 12_6128984_T->C 12 6128984 6128984 T C snp 255.8 1/1 21 8 0 8 1.0 intronic rs216312 VWF AR,AD NM_000552 exon25 c.70729+75T>C 0.65635 0.6329 Uncertain 12_6143984_T->C 12 6143984 6143984 T C snp 6306.77 1/1 99 232 0 232 1.0 exonic rs216321 VWF AR,AD nonsynonymous SNV NM_000552 exon20 c.A2555G p.Q852R 0.896965 0.7907 0.923881 0.8992 0.7982 1 T 1.000 P -0.939 T 0.0 T 0.0 T ID=CM108222;DIS=Reduced vWF plasma protein levels;TAG=FP;PUB=20941784 FP Pathogenic 12_6144164_T->C 12 6144164 6144164 T C snp 1301.77 1/1 96 37 0 37 1.0 intronic rs499648 VWF AR,AD NM_000552 exon33 c.85812+172T>C 0.89357 0.7917 Uncertain 12_6144169_T->G 12 6144169 6144169 T G snp 1146.77 1/1 84 33 0 33 1.0 intronic rs669667 VWF AR,AD NM_000552 exon33 c.85812+177T>G 0.89357 0.7917 Uncertain 12_6145529_G->A 12 6145529 6145529 G A snp 848.77 1/1 63 29 0 29 1.0 intronic rs216325 VWF AR,AD NM_000552 exon34 c.87373-24G>A 0.753195 0.7808 0.697217 0.7029 0.7968 Uncertain 12_6153659_G->T 12 6153659 6153659 G T snp 2848.77 1/1 99 97 0 97 1.0 intronic rs216293 VWF AR,AD NM_000552 exon35 c.95437+42G>T 0.530751 0.6865 0.463934 0.5801 0.7213 Uncertain 12_6153750_A->G 12 6153750 6153750 A G snp 311.78 1/1 24 9 0 9 1.0 intronic rs216294 VWF AR,AD NM_000552 exon35 c.95437+133A>G 0.897165 0.7778 Uncertain 12_6161963_-->AGA 12 6161963 6161963 - AGA indel 4381.73 1/1 99 86 0 86 1.0 intronic rs10622288 VWF AR,AD NM_000552 exon37 c.103769+14insAGA 0.845048 0.7679 0.854220 0.8375 0.7845 Uncertain 12_6172202_T->C 12 6172202 6172202 T C snp 3200.06 1/1 99 106 0 106 1.0 exonic rs1800378 VWF AR,AD nonsynonymous SNV NM_000552 exon13 c.A1451G p.H484R 0.51877 0.6667 0.508611 0.6212 0.7081 1 T 1.000 P -0.939 T 0.017 T 0.025 T Pathogenic 12_6172348_C->A 12 6172348 6172348 C A snp 94.77 0/1 99 15 9 6 0.4 intronic rs2239159 VWF AR,AD NM_000552 exon40 c.114040+128C>A 0.406749 0.4306 Uncertain 12_6219682_G->A 12 6219682 6219682 G A snp 1615.77 0/1 99 144 77 67 0.47 exonic rs2229444 VWF AR,AD synonymous SNV NM_000552 exon5 c.C390T p.S130S 0.0415335 0.1627 0.005767 0.0180 0.1691 Uncertain 12_6230288_A->G 12 6230288 6230288 A G snp 2687.77 1/1 99 76 0 76 1.0 intronic rs6489694 VWF AR,AD NM_000552 exon50 c.172159-51A>G 0.993211 1 0.987269 Uncertain 12_6232426_G->A 12 6232426 6232426 G A snp 782.77 0/1 99 68 34 34 0.5 intronic rs2286608 VWF AR,AD NM_000552 exon51 c.174182+64G>A 0.391573 0.3522 0.513141 Uncertain 12_6309895_G->A 12 6309895 6309895 G A snp 43.77 0/1 70 4 2 2 0.5 intronic rs797774 CD9 AU NM_001769 exon1 c.66+164G>A 0.397564 0.4633 Uncertain 12_6344600_C->A 12 6344600 6344600 C A snp 1826.77 0/1 99 169 94 75 0.44 intronic rs2072372 CD9 AU NM_001769 exon6 c.34976-41C>A 0.569289 0.4335 0.606028 0.5347 0.4486 Uncertain 12_6352292_T->A 12 6352292 6352292 T A snp 1488.77 1/1 99 46 0 46 1.0 intergenic rs9668222 CD9 AU 1 1 Uncertain 12_6422272_T->C 12 6422272 6422272 T C snp 4366.77 1/1 99 154 0 154 1.0 UTR5 rs10849440 PLEKHG6 AU 0.991214 1 0.9867 1 Uncertain 12_6439255_A->G 12 6439255 6439255 A G snp 2316.77 1/1 99 71 0 71 1.0 intronic rs10849443 TNFRSF1A AU,AD NM_001065 exon2 c.755+23A>G 1 1 1 1 Uncertain 12_6439470_A->G 12 6439470 6439470 A G snp 1298.77 0/1 99 104 54 50 0.48 intronic rs12426675 TNFRSF1A AU,AD NM_001065 exon3 c.984+9A>G 0.333666 0.3304 0.232354 0.2776 0.3227 Uncertain 12_6442346_A->G 12 6442346 6442346 A G snp 1944.77 0/1 99 155 68 87 0.56 intronic rs1800692 TNFRSF1A AU,AD NM_001065 exon6 c.3836+33A>G 0.71266 0.4653 0.700369 0.6665 0.5164 0 D 0.0 P -0.960 T Uncertain 12_6457062_T->C 12 6457062 6457062 T C snp 344.77 0/1 99 17 6 11 0.65 exonic rs2228576 SCNN1A AR,AD nonsynonymous SNV NM_001038 exon13 c.A1987G p.T663A 0.740615 0.496 0.762856 0.7133 0.5443 1 T 0.0 P -0.939 T 0.0 T 0.0 T CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_multiple_submitters\x2c_no_conflicts;CLNACC=RCV000151811.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 ID=CM994637;DIS=Hypertension, reduced risk, association with;TAG=DFP;PUB=10523338 DFP Pathogenic 12_6458084_C->T 12 6458084 6458084 C T snp 3167.77 1/1 99 114 0 114 1.0 intronic rs3764875 SCNN1A AR,AD NM_001159576 exon3 c.1077-31C>T 0.653155 0.8016 0.621867 0.6547 0.7840 Uncertain 12_6459326_T->C 12 6459326 6459326 T C snp 279.8 1/1 21 13 0 13 1.0 intronic rs61918248 SCNN1A AR,AD NM_001159576 exon5 c.1533+755T>C 0.641374 0.7054 Uncertain 12_6463862_G->A 12 6463862 6463862 G A snp 1056.77 1/1 78 36 0 36 1.0 intronic rs11614164 SCNN1A AR,AD NM_001159576 exon7 c.6877-53G>A 0.739816 0.7966 Uncertain 12_6464581_C->T 12 6464581 6464581 C T snp 3849.77 1/1 99 141 0 141 1.0 exonic rs11542844 SCNN1A AR,AD nonsynonymous SNV NM_001038 exon6 c.G1000A p.A334T 0.192292 0.1379 0.176303 0.0899 0.1417 1 T 0.000 P -0.918 T 0.004 T 0.002 T CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000151812.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 12_6483463_T->C 12 6483463 6483463 T C snp 1736.77 1/1 99 47 0 47 1.0 intronic rs3741914 SCNN1A AR,AD NM_001159576 exon12 c.26495-70T>C 0.769968 0.8026 Uncertain 12_6483851_G->A 12 6483851 6483851 G A snp 3008.77 0/1 99 247 127 120 0.49 exonic rs13306619 SCNN1A AR,AD synonymous SNV NM_001038 exon2 c.C99T p.P33P 0.038139 0.0923 0.007074 0.0169 0.0794 Uncertain 12_6484666_C->G 12 6484666 6484666 C G snp 867.77 0/1 99 86 50 36 0.42 splicing rs13306617 SCNN1A AR,AD NM_001038 exon13 c.27632-4C>G 0.0567093 0.1359 Pathogenic 12_6484709_T->C 12 6484709 6484709 T C snp 3022.77 1/1 99 111 0 111 1.0 UTR5 rs10849447 LTBR AU 0.756789 0.8512 0.5820 0.8643 Uncertain 12_6493901_G->A 12 6493901 6493901 G A snp 1813.77 1/1 96 66 1 65 0.98 intronic rs2302256 LTBR AU NM_002342 exon2 c.326+51G>A 0.291534 0.3224 0.228279 0.1767 0.2928 Uncertain 12_6495275_C->A 12 6495275 6495275 C A snp 3616.77 1/1 99 128 0 128 1.0 exonic rs2364480 LTBR AU synonymous SNV NM_001270987 exon5 c.C459A p.A153A 0.848243 0.873 0.804167 0.7774 0.8654 Uncertain 12_6495635_-->A 12 6495635 6495635 - A indel 1965.73 1/1 99 45 0 45 1.0 intronic rs5796232 LTBR AU NM_002342 exon6 c.2086+25insA 0.618411 0.8194 0.4583 0.8049 Uncertain 12_6500105_T->G 12 6500105 6500105 T G snp 3209.76 1/1 99 114 0 114 1.0 UTR3 rs12354 LTBR AU 0.843051 0.8681 0.787867 0.7636 0.8627 Uncertain 12_6551899_C->T 12 6551899 6551899 C T snp 410.77 0/1 99 40 22 18 0.45 ncRNA_intronic rs2886090 CD27-AS1 AU 0.376597 0.4435 Uncertain 12_6560473_A->G 12 6560473 6560473 A G snp 3075.77 1/1 99 116 0 116 1.0 exonic rs2532502 CD27 AR nonsynonymous SNV NM_001242 exon6 c.A698G p.H233R 0.997404 1 0.991696 0.9926 1 0.48 T 0.0 P -0.964 T 0.0 T 0.0 T Pathogenic 12_6560573_G->T 12 6560573 6560573 G T snp 468.77 0/1 99 33 17 16 0.48 ncRNA_exonic rs1059501 CD27-AS1 AU 0.360024 0.4315 0.409643 0.4935 0.4366 Uncertain 12_6561604_AG->- 12 6561604 6561605 AG - indel 614.73 0/1 99 24 10 14 0.58 intronic rs151118790 TAPBPL AU NM_018009 exon1 c.64+126_64+127delAG 0.227636 0.3194 Uncertain 12_6562285_C->T 12 6562285 6562285 C T snp 1286.77 0/1 99 98 49 49 0.5 exonic rs2041384 TAPBPL AU synonymous SNV NM_018009 exon2 c.C117T p.C39C 0.228035 0.3224 0.230651 0.3433 0.4000 Uncertain 12_6562293_C->T 12 6562293 6562293 C T snp 1360.77 0/1 99 107 54 53 0.5 exonic rs2041385 TAPBPL AU nonsynonymous SNV NM_018009 exon2 c.C125T p.A42V 0.227636 0.3204 0.231544 0.3427 0.3960 1 T 0.0 P -1.025 T 0.001 T 0.0 T Pathogenic 12_6562476_C->T 12 6562476 6562476 C T snp 2677.77 0/1 99 247 126 121 0.49 intronic rs2286722 TAPBPL AU NM_018009 exon2 c.1049+13C>T 0.000399361 0.002 0.0004 0.0052 Uncertain 12_6562753_A->G 12 6562753 6562753 A G snp 2039.77 1/1 99 72 0 72 1.0 exonic rs2532501 TAPBPL AU nonsynonymous SNV NM_018009 exon3 c.A436G p.M146V 0.6877 0.7887 0.656466 0.6832 0.7675 1 T 0.0 P -1.003 T 0.0 T 0.0 T Pathogenic 12_6562810_A->G 12 6562810 6562810 A G snp 1150.77 1/1 48 40 1 39 0.97 exonic rs2532500 TAPBPL AU nonsynonymous SNV NM_018009 exon3 c.A493G p.T165A 0.6873 0.7887 0.656543 0.6830 0.7674 1 T 0.0 P -0.962 T 0.0 T 0.0 T Pathogenic 12_6562823_C->T 12 6562823 6562823 C T snp 377.77 0/1 99 33 17 16 0.48 exonic rs2041387 TAPBPL AU nonsynonymous SNV NM_018009 exon3 c.C506T p.A169V 0.258187 0.3224 0.265032 0.2806 0.3365 0.42 T 0.000 P -1.014 T 0.003 T 0.003 T Pathogenic 12_6562836_G->A 12 6562836 6562836 G A snp 308.77 0/1 99 25 12 13 0.52 exonic rs2041388 TAPBPL AU synonymous SNV NM_018009 exon3 c.G519A p.P173P 0.202875 0.3224 0.211287 0.2563 0.3365 Uncertain 12_6562931_T->C 12 6562931 6562931 T C snp 99.28 1/1 9 3 0 3 1.0 intronic rs2534698 TAPBPL AU NM_018009 exon3 c.1468+49T>C 0.6873 0.7887 0.655344 0.6713 0.7516 Uncertain 12_6565750_A->G 12 6565750 6565750 A G snp 886.77 1/1 63 33 0 33 1.0 intronic rs10774432 TAPBPL AU NM_018009 exon4 c.5157-821A>G 0.686701 0.7877 Uncertain 12_6567787_T->C 12 6567787 6567787 T C snp 1066.77 0/1 99 92 51 41 0.45 intronic rs2243750 TAPBPL AU NM_018009 exon5 c.6396-23T>C 0.233427 0.3254 0.241965 0.2755 0.3436 Uncertain 12_6568572_T->C 12 6568572 6568572 T C snp 56.74 1/1 6 2 0 2 1.0 intronic rs2534709 TAPBPL AU NM_018009 exon5 c.6699+459T>C 0.233826 0.3254 Uncertain 12_6569983_C->T 12 6569983 6569983 C T snp 1959.77 0/1 99 190 105 85 0.45 intronic rs2243977 TAPBPL AU NM_018009 exon6 c.8606-37C>T 0.233027 0.3254 0.241811 0.2742 0.3454 Uncertain 12_6570163_C->T 12 6570163 6570163 C T snp 2655.77 1/1 99 96 0 96 1.0 intronic rs2534710 TAPBPL AU NM_018009 exon6 c.8690+59C>T 0.6873 0.7877 0.662067 Uncertain 12_6572048_A->G 12 6572048 6572048 A G snp 3713.77 1/1 99 142 0 142 1.0 UTR3 rs1045452 VAMP1 AD 0.730032 0.7877 0.706095 0.6972 0.7625 Uncertain 12_6572191_T->C 12 6572191 6572191 T C snp 908.77 1/1 66 30 0 30 1.0 UTR3 rs12964 VAMP1 AD 0.52516 0.7788 Uncertain 12_6573061_A->G 12 6573061 6573061 A G snp 653.77 0/1 99 48 19 29 0.6 UTR3 rs2534714 VAMP1 AD 0.272165 0.3284 0.3485 0.3281 Uncertain 12_6573146_T->C 12 6573146 6573146 T C snp 1735.77 0/1 99 141 69 72 0.51 UTR3 rs2534715 VAMP1 AD 0.272764 0.3294 0.3368 0.3309 0.87 T 0.0 P -1.031 T Uncertain 12_6573716_T->C 12 6573716 6573716 T C snp 350.77 0/1 99 32 11 21 0.66 intronic rs2534716 VAMP1 AD NM_014231 exon1 c.17+64T>C 0.272564 0.3284 0.275734 Uncertain 12_6573749_C->T 12 6573749 6573749 C T snp 312.77 0/1 54 17 3 14 0.82 intronic rs2534717 VAMP1 AD NM_014231 exon1 c.17+97C>T 0.272564 0.3284 Uncertain 12_6574301_G->T 12 6574301 6574301 G T snp 1914.77 0/1 99 172 92 80 0.47 intronic rs1017101 VAMP1 AD NM_016830 exon2 c.2110+194G>T 0.210463 0.3284 Uncertain 12_6575044_G->T 12 6575044 6575044 G T snp 1088.77 0/1 99 108 59 49 0.45 exonic rs2072375 VAMP1 AD synonymous SNV NM_014231 exon3 c.C252A p.A84A 0.272364 0.3284 0.280255 0.2936 0.3430 Uncertain 12_6575191_A->T 12 6575191 6575191 A T snp 1381.77 1/1 99 48 0 48 1.0 intronic rs2534718 VAMP1 AD NM_016830 exon3 c.3169+25A>T 0.985823 1 0.963171 0.9662 0.9999 Uncertain 12_6579565_A->G 12 6579565 6579565 A G snp 2385.77 1/1 99 76 0 76 1.0 intronic rs2534720 VAMP1 AD NM_016830 exon5 c.7698-130A>G 1 1 Uncertain 12_6579757_T->C 12 6579757 6579757 T C snp 6261.77 1/1 99 226 0 226 1.0 UTR5 rs2532489 VAMP1 AD 0.996805 1 0.994087 Uncertain 12_6579812_T->C 12 6579812 6579812 T C snp 1967.77 0/1 99 106 37 69 0.65 UTR5 rs2072376 VAMP1 AD 0.461262 0.4603 Uncertain 12_6601743_A->C 12 6601743 6601743 A C snp 557.77 0/1 99 38 17 21 0.55 intronic rs1001127 MRPL51 AU NM_016497 exon1 c.197+110A>C 0.792332 0.6696 Uncertain 12_6618871_C->T 12 6618871 6618871 C T snp 2725.77 0/1 99 249 134 115 0.46 intronic rs7309414 NCAPD2 AU NM_014865 exon3 c.14618-11C>T 0.173323 0.3313 0.140012 0.1740 0.3079 Uncertain 12_6619054_T->C 12 6619054 6619054 T C snp 1574.77 0/1 99 122 60 62 0.51 intronic rs7298053 NCAPD2 AU NM_014865 exon3 c.14694+96T>C 0.30631 0.3413 Uncertain 12_6619284_C->G 12 6619284 6619284 C G snp 1589.77 0/1 99 166 97 69 0.42 exonic rs714774 NCAPD2 AU nonsynonymous SNV NM_014865 exon4 c.C247G p.Q83E 0.795527 0.6706 0.792942 0.7536 0.6551 1 T 1.0 P -0.942 T 0.0 T 0.001 T Pathogenic 12_6619402_T->C 12 6619402 6619402 T C snp 1414.77 0/1 99 145 78 67 0.46 ncRNA_exonic rs714775 SCARNA10 AU 0.184505 0.3323 0.144925 0.1808 0.3103 Uncertain 12_6620495_G->T 12 6620495 6620495 G T snp 321.77 0/1 99 21 9 12 0.57 intronic rs7358768 NCAPD2 AU NM_014865 exon6 c.16154+77G>T 0.654752 0.5456 Uncertain 12_6623389_T->C 12 6623389 6623389 T C snp 958.77 0/1 99 58 23 35 0.6 intronic rs4764605 NCAPD2 AU NM_014865 exon7 c.19166-41T>C 0.694089 0.5456 0.734353 0.7059 0.5471 Uncertain 12_6626369_G->C 12 6626369 6626369 G C snp 529.77 1/1 42 15 0 15 1.0 intronic rs758739 NCAPD2 AU NM_014865 exon11 c.22266-161G>C 0.783946 0.7004 Uncertain 12_6631169_C->A 12 6631169 6631169 C A snp 3512.77 1/1 99 140 0 140 1.0 exonic rs917634 NCAPD2 AU synonymous SNV NM_014865 exon15 c.C1920A p.I640I 0.53155 0.5704 0.498308 0.4855 0.5653 Uncertain 12_6631349_G->A 12 6631349 6631349 G A snp 88.77 0/1 30 5 1 4 0.8 intronic rs11064244 NCAPD2 AU NM_014865 exon15 c.26939+146G>A 0.0561102 0.2163 Uncertain 12_6631888_G->A 12 6631888 6631888 G A snp 1718.77 1/1 99 53 0 53 1.0 intronic rs2072373 NCAPD2 AU NM_014865 exon16 c.27729-105G>A 0.220248 0.3671 Uncertain 12_6635567_A->T 12 6635567 6635567 A T snp 7111.77 1/1 99 250 0 250 1.0 intronic rs7311174 NCAPD2 AU NM_014865 exon20 c.31273+30A>T 0.799521 0.7034 0.785484 0.7463 0.6861 Uncertain 12_6637845_T->C 12 6637845 6637845 T C snp 2556.77 1/1 99 94 0 94 1.0 exonic rs2072374 NCAPD2 AU synonymous SNV NM_014865 exon26 c.T3300C p.R1100R 0.797125 0.6925 0.785407 0.7456 0.6701 Uncertain 12_6639088_A->G 12 6639088 6639088 A G snp 5261.77 1/1 99 205 0 205 1.0 exonic rs1043262 NCAPD2 AU synonymous SNV NM_014865 exon29 c.A3801G p.V1267V 0.78155 0.7063 0.770183 0.7433 0.6949 Uncertain 12_6639981_C->G 12 6639981 6639981 C G snp 4833.77 1/1 99 173 0 173 1.0 exonic rs2240871 NCAPD2 AU nonsynonymous SNV NM_014865 exon30 c.C3962G p.T1321S 0.183706 0.3671 0.142473 0.1773 0.3391 0.55 T 0.0 P -0.941 T 0.001 T 0.002 T Pathogenic 12_6640267_G->A 12 6640267 6640267 G A snp 284.78 1/1 24 9 0 9 1.0 intronic rs10849485 NCAPD2 AU NM_014865 exon31 c.35978+25G>A 0.295927 0.376 0.312952 0.3546 0.3484 Uncertain 12_6643927_T->G 12 6643927 6643927 T G snp 814.77 1/1 60 25 0 25 1.0 intronic rs3741915 GAPDH AU NM_001289746 exon1 c.29-100T>G 0.421526 0.494 0.329829 Uncertain 12_6643991_C->G 12 6643991 6643991 C G snp 2520.77 1/1 99 88 0 88 1.0 UTR5 rs1136666 GAPDH AU 0.252796 0.2579 0.262842 0.2395 0.2146 Uncertain 12_6644256_T->A 12 6644256 6644256 T A snp 671.77 1/1 51 19 0 19 1.0 intronic rs3741918 GAPDH AU NM_002046 exon2 c.29+229T>A 0.241813 0.4087 Uncertain 12_6646320_T->C 12 6646320 6646320 T C snp 5489.77 1/1 99 186 0 186 1.0 exonic rs1065691 GAPDH AU synonymous SNV NM_002046 exon6 c.T381C p.D127D 0.404952 0.5188 0.294710 0.2774 0.4967 Uncertain 12_6647109_T->C 12 6647109 6647109 T C snp 2506.77 1/1 99 92 0 92 1.0 exonic rs1803621 GAPDH AU synonymous SNV NM_002046 exon8 c.T885C p.F295F 0.414736 0.5486 0.292873 0.2801 0.5285 Uncertain 12_6649540_A->G 12 6649540 6649540 A G snp 297.78 1/1 24 8 0 8 1.0 UTR3 rs2240875 IFFO1 AU 0.405551 0.5218 Uncertain 12_6657538_T->G 12 6657538 6657538 T G snp 1390.77 1/1 99 40 0 40 1.0 intronic rs2286724 IFFO1 AU NM_001193457 exon4 c.7942-52T>G 0.430711 0.5347 Uncertain 12_6659694_G->C 12 6659694 6659694 G C snp 167.77 0/1 99 23 16 7 0.3 intronic rs2286726 IFFO1 AU NM_001193457 exon8 c.10212-166G>C 0.413339 0.4782 Uncertain 12_6660219_C->T 12 6660219 6660219 C T snp 1860.77 0/1 99 168 86 82 0.49 intronic rs7312991 IFFO1 AU NM_001193457 exon9 c.10519+52C>T 0.198482 0.1905 0.192244 0.2319 0.1617 Uncertain 12_6660225_T->C 12 6660225 6660225 T C snp 1816.77 0/1 99 170 86 84 0.49 intronic rs7301426 IFFO1 AU NM_001193457 exon9 c.10519+58T>C 0.257188 0.1895 0.255147 Uncertain 12_6665250_G->A 12 6665250 6665250 G A snp 535.77 0/1 99 47 21 26 0.55 upstream;downstream rs147712791 IFFO1;NOP2 UN 0.00599042 0.0288 Uncertain 12_6697353_G->A 12 6697353 6697353 G A snp 553.77 0/1 99 25 8 17 0.68 intronic rs12310569 CHD4 AD NM_001297553 exon18 c.17622-110G>A 0.130591 0.1825 Uncertain 12_6711147_C->A 12 6711147 6711147 C A snp 1187.77 0/1 99 103 49 54 0.52 exonic rs1639122 CHD4 AD nonsynonymous SNV NM_001273 exon4 c.G417T p.E139D 0.553115 0.4821 0.548741 0.4118 0.3968 1 T 0.001 P -0.910 T 0.0 T 0.0 T Pathogenic 12_6747578_G->C 12 6747578 6747578 G C snp 1195.77 0/1 99 120 70 50 0.42 intronic rs1882553 ACRBP AU NM_032489 exon1 c.123+8G>C 0.679313 0.6448 0.721359 0.7568 0.6500 Uncertain 12_6749093_A->G 12 6749093 6749093 A G snp 472.77 1/1 36 12 0 12 1.0 intronic rs2365087 ACRBP AU NM_032489 exon3 c.1778-132A>G 0.990016 1 Uncertain 12_6752776_T->C 12 6752776 6752776 T C snp 3371.77 0/1 99 243 106 137 0.56 exonic rs3741923 ACRBP AU nonsynonymous SNV NM_032489 exon6 c.A1006G p.T336A 0.00379393 0.0179 0.0010 0.0126 0.05 T 1 N -1.007 T 0.019 T 0.017 T Pathogenic 12_6754518_G->C 12 6754518 6754518 G C snp 368.77 0/1 99 47 28 19 0.4 intronic rs10849493 ACRBP AU NM_032489 exon7 c.7056+15G>C 0.139577 0.3373 0.037137 0.0788 0.3369 Uncertain 12_6756240_A->G 12 6756240 6756240 A G snp 112.77 0/1 30 6 2 4 0.67 intronic rs3803130 ACRBP AU NM_032489 exon9 c.8731+62A>G 0.828874 0.6667 Uncertain 12_6762026_T->C 12 6762026 6762026 T C snp 1545.77 1/1 99 49 0 49 1.0 intronic rs4764506 ING4 AU NM_016162 exon5 c.1741-75T>C 0.965455 1 Uncertain 12_6764831_G->A 12 6764831 6764831 G A snp 337.77 0/1 99 16 6 10 0.63 intronic rs4764616 ING4 AU NM_016162 exon7 c.5532-1061G>A 0.828075 0.6637 Uncertain 12_6777070_TGC->- 12 6777070 6777072 TGC - indel 1787.73 1/1 99 98 0 98 1.0 exonic rs3835029 ZNF384 AU nonframeshift deletion NM_001039920 exon9 c.1194_1196del p.398_399del 0.79992 0.8125 0.5695 0.6412 ID=COSM1133963,COSM431727,COSM431726,COSM1133964;OCCURENCE=3(breast),2(endometrium),1(ovary) Uncertain 12_6786452_T->C 12 6786452 6786452 T C snp 619.77 0/1 99 45 20 25 0.56 intronic ZNF384 AU NM_001135734 exon6 c.10413-840T>C Uncertain 12_6804902_A->G 12 6804902 6804902 A G snp 2164.77 1/1 99 79 0 79 1.0 intronic rs10849498 PIANP AU NM_153685 exon2 c.616+85A>G 1 1 Uncertain 12_6835068_A->G 12 6835068 6835068 A G snp 5785.77 1/1 99 177 0 177 1.0 intronic rs7487866 COPS7A AU NM_001164093 exon1 c.162+1084A>G 0.66254 0.75 0.7675 0.8188 Uncertain 12_6835081_G->A 12 6835081 6835081 G A snp 4560.77 1/1 99 134 0 134 1.0 intronic rs2365100 COPS7A AU NM_001164093 exon1 c.162+1097G>A 0.670128 0.75 0.7681 0.8162 Uncertain 12_6836852_A->G 12 6836852 6836852 A G snp 5087.77 1/1 99 195 0 195 1.0 intronic rs7138427 COPS7A AU NM_001164093 exon2 c.3269-239A>G 0.865415 0.88 0.9099 0.9155 Uncertain 12_6836913_G->T 12 6836913 6836913 G T snp 3758.77 1/1 99 128 0 128 1.0 intronic rs2178691 COPS7A AU NM_001164093 exon2 c.3269-178G>T 0.777356 0.8105 0.8354 0.8395 Uncertain 12_6837643_T->C 12 6837643 6837643 T C snp 56.74 1/1 6 2 0 2 1.0 intronic rs2286731 COPS7A AU NM_001164093 exon3 c.3655+166T>C 0.669329 0.75 Uncertain 12_6839453_G->A 12 6839453 6839453 G A snp 844.77 1/1 66 30 0 30 1.0 intronic rs871365 COPS7A AU NM_001164093 exon5 c.5745-114G>A 0.703075 0.749 Uncertain 12_6840209_G->A 12 6840209 6840209 G A snp 2493.77 1/1 99 88 0 88 1.0 UTR3 rs3168600 COPS7A AU 0.668331 0.749 0.618407 0.6689 0.7744 1 T 1.0 P -1.003 T 0.131 T 0.04 T Uncertain 12_6840371_G->T 12 6840371 6840371 G T snp 2878.77 1/1 99 104 1 103 0.99 UTR3 rs11227 COPS7A AU 0.66853 0.75 Uncertain 12_6883670_G->C 12 6883670 6883670 G C snp 708.77 0/1 99 37 11 26 0.7 intronic rs2365094 LAG3 AU NM_002286 exon4 c.1742-90G>C 0.323682 0.4464 Uncertain 12_6887020_T->C 12 6887020 6887020 T C snp 4122.77 1/1 99 150 0 150 1.0 exonic rs870849 LAG3 AU nonsynonymous SNV NM_002286 exon7 c.T1364C p.I455T 0.669329 0.8224 0.598416 0.6392 0.8450 0.01 T 0.084 P -1.058 T 0.01 T 0.003 T Pathogenic 12_6909381_G->- 12 6909381 6909381 G - indel 1428.73 0/1 99 120 77 43 0.36 intronic CD4 AU NM_000616 exon2 c.49+28delG 0.520367 0.6161 0.565895 0.5831 0.6144 Uncertain 12_6909388_A->G 12 6909388 6909388 A G snp 3108.77 1/1 99 116 0 116 1.0 intronic CD4 AU NM_000616 exon2 c.49+35A>G 0.958666 1 0.942873 0.9267 0.9999 Uncertain 12_6909442_T->C 12 6909442 6909442 T C snp 1087.77 0/1 99 103 58 45 0.44 intronic CD4 AU NM_000616 exon3 c.168-30T>C 0.571486 0.6161 0.624097 0.5998 0.6166 Uncertain 12_6923286_C->G 12 6923286 6923286 C G snp 598.77 0/1 99 55 29 26 0.47 intronic CD4 AU NM_000616 exon4 c.14003-21C>G 0.161741 0.1657 0.104106 0.0807 0.1638 Uncertain 12_6923831_C->T 12 6923831 6923831 C T snp 982.77 0/1 99 70 29 41 0.59 intronic CD4 AU NM_000616 exon5 c.14620-93C>T 0.175319 0.1657 Uncertain 12_6924718_C->A 12 6924718 6924718 C A snp 524.77 0/1 99 26 9 17 0.65 intronic CD4 AU NM_000616 exon6 c.15917-503C>A 0.530351 0.7093 Uncertain 12_6925407_C->T 12 6925407 6925407 C T snp 2802.77 0/1 99 250 131 119 0.48 exonic rs28919570 CD4 AU nonsynonymous SNV NM_000616 exon6 c.C793T p.R265W 0.0722843 0.0337 0.069814 0.0220 0.0299 0.07 T 0.0 P -0.970 T 0.981 D 0.861 D CLINSIG=pathogenic;CLNDBN=Okt4_epitope_deficiency;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000022781.22;CLNDSDB=MedGen:OMIM;CLNDSDBID=C3151379:613949 ID=COSM3688421;OCCURENCE=1(large_intestine) ID=CM910733;DIS=OKT4-epitope deficiency;TAG=FP;PUB=1708753 FP Pathogenic 12_6926363_T->C 12 6926363 6926363 T C snp 2283.77 1/1 99 92 0 92 1.0 exonic CD4 AU synonymous SNV NM_000616 exon7 c.T1023C p.S341S 0.746805 0.9137 0.610795 0.6439 0.9254 Uncertain 12_6927470_C->T 12 6927470 6927470 C T snp 523.77 1/1 39 16 0 16 1.0 intronic CD4 AU NM_001195017 exon6 c.2153-116C>T 0.513578 0.7579 Uncertain 12_6928075_T->C 12 6928075 6928075 T C snp 2801.77 1/1 99 96 0 96 1.0 exonic CD4 AU synonymous SNV NM_000616 exon9 c.T1341C p.C447C 0.75619 0.9117 0.620191 0.6465 0.9253 Uncertain 12_6928135_T->G 12 6928135 6928135 T G snp 1167.77 1/1 90 30 0 30 1.0 intronic CD4 AU NM_001195017 exon7 c.2647+55T>G 1 1 Uncertain 12_6928136_A->G 12 6928136 6928136 A G snp 1129.77 1/1 84 28 0 28 1.0 intronic CD4 AU NM_001195017 exon7 c.2647+56A>G 0.588059 0.7877 Uncertain 12_6928586_C->A 12 6928586 6928586 C A snp 1139.77 1/1 84 28 0 28 1.0 UTR3 CD4 AU 1 1 Uncertain 12_6928587_A->G 12 6928587 6928587 A G snp 1120.77 1/1 84 28 0 28 1.0 UTR3 CD4 AU 1 1 Uncertain 12_6933787_A->G 12 6933787 6933787 A G snp 2724.77 0/1 99 232 119 113 0.49 exonic GPR162 AU synonymous SNV NM_019858 exon2 c.A723G p.V241V 0.489417 0.5675 0.489005 0.4721 0.5512 Uncertain 12_6934989_C->T 12 6934989 6934989 C T snp 274.77 0/1 99 16 6 10 0.63 intronic GPR162 AU NM_014449 exon3 c.1924+151C>T 0.243011 0.372 Uncertain 12_6935631_A->C 12 6935631 6935631 A C snp 479.77 0/1 99 31 14 17 0.55 intronic GPR162 AU NM_014449 exon4 c.2604+113A>C 0.215056 0.3819 Uncertain 12_6935787_A->T 12 6935787 6935787 A T snp 934.77 0/1 99 109 63 46 0.42 intronic GPR162 AU NM_014449 exon5 c.2903-30A>T 0.273762 0.3948 0.224204 0.2038 0.3567 Uncertain 12_6936432_G->A 12 6936432 6936432 G A snp 119.77 0/1 99 8 3 5 0.63 UTR3 GPR162 AU 0.00339457 0.0159 Uncertain 12_6937532_C->T 12 6937532 6937532 C T snp 122.77 0/1 66 7 2 5 0.71 upstream;downstream P3H3;GPR162 UN 0.103435 0.1518 Uncertain 12_6938023_-->G 12 6938023 6938023 - G indel 1659.73 1/1 99 40 0 40 1.0 exonic P3H3 AU unknown 1 1 0.998162 1 1 ID=COSM942937;OCCURENCE=4(endometrium) Uncertain 12_6939850_A->G 12 6939850 6939850 A G snp 1271.77 0/1 99 162 103 59 0.36 exonic P3H3 AU unknown 0.641573 0.7073 0.563826 0.5375 0.6964 0.04 T 0.0 P -1.041 T 0.07 T 0.024 T Uncertain 12_6940254_A->G 12 6940254 6940254 A G snp 5133.77 1/1 99 170 0 170 1.0 intronic P3H3 AU NM_014262 exon5 c.2774-125A>G 0.8125 0.9643 Uncertain 12_6942672_A->C 12 6942672 6942672 A C snp 1909.77 1/1 99 63 0 63 1.0 intronic rs4963513 P3H3 AU NM_014262 exon7 c.5150-83A>C 0.815495 0.9663 Uncertain 12_6942823_A->G 12 6942823 6942823 A G snp 5977.77 1/1 99 219 0 219 1.0 intronic P3H3 AU NM_014262 exon7 c.5203+15A>G 0.816494 0.9663 0.674168 0.6662 0.9643 Uncertain 12_6946493_T->C 12 6946493 6946493 T C snp 216.84 1/1 18 6 0 6 1.0 intronic P3H3 AU NM_014262 exon11 c.8981-93T>C 0.81849 0.9663 Uncertain 12_6946545_C->A 12 6946545 6946545 C A snp 1191.77 1/1 90 33 0 33 1.0 intronic P3H3 AU NM_014262 exon11 c.8981-41C>A 0.684305 0.8254 0.581445 0.6320 0.8170 Uncertain 12_6948028_T->G 12 6948028 6948028 T G snp 360.77 0/1 99 21 9 12 0.57 intronic P3H3 AU NM_014262 exon14 c.10558-135T>G 0.189497 0.2778 Uncertain 12_6979010_G->A 12 6979010 6979010 G A snp 3168.77 0/1 99 250 134 116 0.46 intronic TPI1 AR NM_000365 exon5 c.2207+73G>A 0.314896 0.2054 Uncertain 12_6979725_G->A 12 6979725 6979725 G A snp 317.77 0/1 99 33 19 14 0.42 UTR3 TPI1 AR 0.00139776 0.0069 0.0005 0.0072 Uncertain 12_7014962_A->C 12 7014962 7014962 A C snp 779.77 0/1 99 59 27 32 0.54 intronic LRRC23 AU NM_006992 exon2 c.126+39A>C 0.223842 0.2252 0.219975 0.1335 0.2157 Uncertain 12_7015915_A->G 12 7015915 7015915 A G snp 546.77 0/1 99 44 24 20 0.45 intronic rs1007924 LRRC23 AU NM_006992 exon4 c.1029+89A>G 0.389976 0.256 Uncertain 12_7016449_C->T 12 7016449 7016449 C T snp 678.77 0/1 99 56 30 26 0.46 intronic LRRC23 AU NM_006992 exon5 c.1681-29C>T 0.384385 0.2569 0.375058 0.2967 0.2375 Uncertain 12_7018949_C->T 12 7018949 7018949 C T snp 449.77 0/1 99 27 11 16 0.59 intronic LRRC23 AU NM_006992 exon6 c.4256-104C>T 0.30611 0.2411 Uncertain 12_7022085_T->A 12 7022085 7022085 T A snp 2640.77 0/1 99 237 125 112 0.47 exonic LRRC23 AU nonsynonymous SNV NM_001135217 exon7 c.T950A p.V317E 0.401358 0.2579 0.394280 0.3045 0.2375 1 T 1.0 P -0.927 T 0.0 T 0.0 T Pathogenic 12_7023123_A->G 12 7023123 7023123 A G snp 927.77 0/1 99 102 62 40 0.39 exonic LRRC23 AU nonsynonymous SNV NM_006992 exon7 c.A827G p.E276G 0.477835 0.4732 0.427187 0.3337 0.4543 0.21 T 0.000 P -1.024 T 0.0 T 0.0 T Pathogenic 12_7026893_-->G 12 7026893 7026893 - G indel 1178.73 1/1 87 30 0 30 1.0 intronic rs376463507 ENO2 AU NM_001975 exon6 c.1882+15insG 1 1 1.0000 0.9999 Uncertain 12_7043486_C->T 12 7043486 7043486 C T snp 303.77 0/1 99 22 11 11 0.5 intronic ATN1 AD NM_001940 exon3 c.312+10C>T 0.13778 0.4296 0.049746 0.0906 0.4289 Uncertain 12_7044647_-->G 12 7044647 7044647 - G indel 1442.73 1/1 99 35 0 35 1.0 intronic ATN1 AD NM_001940 exon5 c.1545-62insG 1 1 Uncertain 12_7045892_CAG->- 12 7045892 7045894 CAG - indel 2587.73 0/1 99 138 47 91 0.66 exonic ATN1 AD nonframeshift deletion NM_001007026 exon5 c.1462_1464del p.488_488del ID=COSM431782;OCCURENCE=1(breast) Likely pathogenic 12_7046745_G->C 12 7046745 7046745 G C snp 1452.77 0/1 99 123 58 65 0.53 intronic ATN1 AD NM_001940 exon5 c.3560+21G>C 0.146765 0.1964 0.076923 0.2805 0.3240 Uncertain 12_7053362_A->G 12 7053362 7053362 A G snp 5530.77 1/1 99 190 0 190 1.0 intronic C12orf57 AR NM_001301834 exon2 c.52+26A>G 0.907149 0.9187 0.897278 0.8638 0.9034 Uncertain 12_7053908_C->T 12 7053908 7053908 C T snp 3314.77 1/1 99 123 0 123 1.0 intronic C12orf57 AR NM_001301836 exon2 c.1003+93C>T 0.14357 0.1964 0.2047 0.2461 Uncertain 12_7054859_G->A 12 7054859 7054859 G A snp 2032.77 1/1 99 69 1 68 0.99 intronic C12orf57 AR NM_001301836 exon3 c.2121-74G>A 0.996206 1 Uncertain 12_7055860_T->C 12 7055860 7055860 T C snp 549.77 0/1 99 78 53 25 0.32 downstream C12orf57 AR 0.753994 0.7887 0.747965 0.7434 0.7737 Uncertain 12_7061466_A->G 12 7061466 7061466 A G snp 176.9 1/1 15 5 0 5 1.0 intronic PTPN6 AU NM_002831 exon3 c.665+126A>G 0.983227 0.998 Uncertain 12_7065281_C->T 12 7065281 7065281 C T snp 2997.77 1/1 99 111 0 111 1.0 intronic PTPN6 AU NM_002831 exon8 c.4629-23C>T 0.808307 0.9732 0.800016 0.9098 0.9881 Uncertain 12_7065406_G->A 12 7065406 7065406 G A snp 3820.77 1/1 99 143 0 143 1.0 intronic PTPN6 AU NM_002831 exon8 c.4709+22G>A 0.808307 0.9732 0.799420 0.9094 0.9882 Uncertain 12_7065576_G->A 12 7065576 7065576 G A snp 4180.77 1/1 99 150 0 150 1.0 splicing PTPN6 AU NM_002831 exon9 c.4906-5G>A 0.816094 0.9812 0.797759 0.9141 0.9969 Pathogenic 12_7065635_T->C 12 7065635 7065635 T C snp 4690.77 1/1 99 178 0 178 1.0 exonic PTPN6 AU synonymous SNV NM_080549 exon9 c.T978C p.G326G 0.948682 0.998 0.921578 0.9499 0.9998 Uncertain 12_7069425_G->C 12 7069425 7069425 G C snp 3667.77 0/1 99 163 20 143 0.88 intronic rs759051 PTPN6 AU NM_002831 exon13 c.8727+23G>C 0.5952 0.6451 Uncertain 12_7069620_T->C 12 7069620 7069620 T C snp 3962.77 1/1 99 138 0 138 1.0 intronic PTPN6 AU NM_002831 exon14 c.8923+22T>C 0.778155 0.8661 0.782969 0.8531 0.8619 Uncertain 12_7069654_G->A 12 7069654 7069654 G A snp 2622.77 1/1 99 86 1 85 0.99 intronic PTPN6 AU NM_002831 exon14 c.8923+56G>A 0.745008 0.8641 0.753833 Uncertain 12_7079215_T->G 12 7079215 7079215 T G snp 3094.77 1/1 99 114 0 114 1.0 intronic PHB2 AU NM_001144831 exon8 c.4511-143T>G 0.996206 1 0.9874 1 0 D 0.000 P -1.041 T Uncertain 12_7080210_-->G 12 7080210 7080210 - G indel 3749.73 1/1 99 98 0 98 1.0 exonic EMG1 AR unknown 1 1 0.996312 1.0000 1 Uncertain 12_7080212_T->C 12 7080212 7080212 T C snp 2298.77 1/1 99 86 0 86 1.0 splicing EMG1 AR NM_006331 exon2 c.126T>C 1 1 1.0000 1 Pathogenic 12_7090659_-->G 12 7090659 7090659 - G indel 4295.73 1/1 99 104 0 104 1.0 intronic LPCAT3 AU NM_005768 exon9 c.4448-96insG 1 1 Uncertain 12_7170336_G->A 12 7170336 7170336 G A snp 1922.77 0/1 99 176 94 82 0.47 exonic C1S AU,AD nonsynonymous SNV NM_201442 exon4 c.G356A p.R119H 0.102436 0.0923 0.122251 0.1152 0.0724 0.01 T 1.0 P -1.056 T 0.955 T 0.468 D Pathogenic 12_7171338_T->A 12 7171338 7171338 T A snp 165.77 0/1 99 42 34 8 0.19 intronic rs16933078 C1S AU,AD NM_001734 exon5 c.2354-232T>A 0.131789 0.1071 0.1221 0.0996 Uncertain 12_7171507_A->G 12 7171507 7171507 A G snp 3430.77 0/1 99 249 115 134 0.54 intronic C1S AU,AD NM_001734 exon5 c.2354-63A>G 0.130192 0.122 Uncertain 12_7172665_-->AAAG 12 7172665 7172665 - AAAG indel 2974.73 0/1 99 106 53 53 0.5 intronic rs112796495 C1S AU,AD NM_001734 exon6 c.3387+62insAAAG 0.132788 0.1349 0.1438 0.1334 Uncertain 12_7175872_T->C 12 7175872 7175872 T C snp 405.77 0/1 99 53 32 21 0.4 intronic C1S AU,AD NM_001734 exon11 c.6618+38T>C 0.121406 0.121 0.135937 0.1249 0.1068 Uncertain 12_7241055_A->G 12 7241055 7241055 A G snp 389.77 0/1 99 48 31 17 0.35 intronic rs36136293 C1R AR NM_001733 exon3 c.53369-149A>G 0.237819 0.495 0.1727 0.5328 0.05 T 0.0 P -1.011 T Uncertain 12_7242204_C->T 12 7242204 7242204 C T snp 2858.77 0/1 99 210 97 113 0.54 exonic rs1126605 C1R AR unknown 0.17492 0.3512 0.102003 0.1174 0.3676 0.96 T 0.001 P -0.799 T 0.0 T 0.002 T Uncertain 12_7242950_A->G 12 7242950 7242950 A G snp 154.77 0/1 99 15 7 8 0.53 intronic rs4332595 C1R AR NM_001733 exon7 c.55009+106A>G 0.394169 0.4375 Uncertain 12_7242953_A->G 12 7242953 7242953 A G snp 155.77 0/1 99 14 8 6 0.43 intronic rs4505141 C1R AR NM_001733 exon7 c.55009+109A>G 0.293331 0.4752 Uncertain 12_7249598_T->C 12 7249598 7249598 T C snp 1618.77 0/1 99 144 70 74 0.51 exonic rs3742089 C1RL AU nonsynonymous SNV NM_001297640 exon5 c.A727G p.I243V 0.432708 0.3264 0.401199 0.3958 0.3192 0.82 T 1.000 P -1.004 T 0.45 T 0.264 P Pathogenic 12_7249863_A->G 12 7249863 7249863 A G snp 93.28 1/1 9 3 0 3 1.0 intronic rs11613834 C1RL AU NM_001297640 exon1 c.773+104A>G 0.86262 0.9613 Uncertain 12_7254669_A->C 12 7254669 7254669 A C snp 1650.77 0/1 99 151 83 68 0.45 exonic rs3742088 C1RL AU synonymous SNV NM_001297640 exon3 c.T315G p.G105G 0.122404 0.1409 0.094726 0.0965 0.1543 0.0 P -1.054 T Likely benign 12_7254787_C->T 12 7254787 7254787 C T snp 573.77 0/1 99 23 7 16 0.7 intronic rs1075425 C1RL AU NM_001297640 exon3 c.5697+104C>T 0.194089 0.37 Uncertain 12_7260709_G->C 12 7260709 7260709 G C snp 77.78 0/1 24 4 1 3 0.75 intronic rs3752772 C1RL AU NM_001297640 exon4 c.11860-137G>C 0.114816 0.1349 Uncertain 12_7274573_A->T 12 7274573 7274573 A T snp 723.77 0/1 99 36 10 26 0.72 downstream rs2290240 C1RL-AS1 AU 0.221046 0.3919 Uncertain 12_7280185_T->C 12 7280185 7280185 T C snp 160.77 0/1 99 15 6 9 0.6 intronic rs61917920 RBP5 AU NM_031491 exon3 c.4119-650T>C 0.109625 0.1409 Uncertain 12_7280880_C->G 12 7280880 7280880 C G snp 3006.77 0/1 99 250 116 134 0.54 exonic rs7969705 RBP5 AU nonsynonymous SNV NM_031491 exon2 c.G208C p.E70Q 0.105631 0.1399 0.066815 0.0928 0.1419 0.02 T 1.000 P -1.031 T 0.94 T 0.781 D ID=CM157061;DIS=Total anomalous pulmonary venous return;TAG=DM?;PUB=26121141 DM? Pathogenic 12_7281317_C->T 12 7281317 7281317 C T snp 623.77 0/1 99 53 28 25 0.47 exonic rs10963 RBP5 AU nonsynonymous SNV NM_031491 exon1 c.G55A p.D19N 0.202476 0.3938 0.140935 0.2126 0.4979 0.24 T 0.001 P -0.927 T 0.002 T 0.01 T Pathogenic 12_7284301_C->T 12 7284301 7284301 C T snp 219.84 1/1 18 7 0 7 1.0 intronic rs2167285 CLSTN3 AU NM_014718 exon1 c.64+993C>T 0.611621 0.7659 Uncertain 12_7284340_-->GCCTCCTA 12 7284340 7284340 - GCCTCCTA indel 995.74 1/1 30 10 0 10 1.0 intronic rs113297706 CLSTN3 AU NM_014718 exon1 c.64+1032insGCCTCCTA 0.21885 0.3433 Uncertain 12_7284484_A->C 12 7284484 7284484 A C snp 2960.77 1/1 99 116 0 116 1.0 intronic rs10772466 CLSTN3 AU NM_014718 exon2 c.2375-1135A>C 0.960064 1 0.9972 1 Uncertain 12_7288734_G->A 12 7288734 7288734 G A snp 1087.77 1/1 81 32 0 32 1.0 intronic rs2278823 CLSTN3 AU NM_014718 exon6 c.5557-67G>A 0.211661 0.4018 Uncertain 12_7290389_T->A 12 7290389 7290389 T A snp 115.77 0/1 66 8 2 6 0.75 intronic CLSTN3 AU NM_014718 exon8 c.7306-161T>A Uncertain 12_7290391_T->A 12 7290391 7290391 T A snp 238.03 0/1 12 9 1 8 0.89 intronic rs5796258 CLSTN3 AU NM_014718 exon8 c.7306-159T>A Uncertain 12_7293796_C->G 12 7293796 7293796 C G snp 4445.77 1/1 99 147 0 147 1.0 intronic rs2305341 CLSTN3 AU NM_014718 exon9 c.10593-41C>G 0.382987 0.5357 0.292173 0.2919 0.5834 Uncertain 12_7342619_G->T 12 7342619 7342619 G T snp 963.77 0/1 99 104 62 42 0.4 UTR5 rs117442311 PEX5 AR 0.00319489 0.0159 9.608e-05 0.0076 Uncertain 12_7360118_T->C 12 7360118 7360118 T C snp 173.77 0/1 99 14 8 6 0.43 intronic rs79634584 PEX5 AR NM_001131025 exon11 c.17281-136T>C 0.00698882 0.0337 Uncertain 12_7362181_C->G 12 7362181 7362181 C G snp 194.84 1/1 18 6 0 6 1.0 intronic rs200824664 PEX5 AR NM_001131025 exon15 c.19305-97C>G Uncertain 12_7362204_G->T 12 7362204 7362204 G T snp 3260.77 1/1 99 102 1 101 0.99 intronic rs10734685 PEX5 AR NM_001131025 exon15 c.19305-74G>T Uncertain 12_7457192_T->C 12 7457192 7457192 T C snp 274.77 0/1 94 12 3 9 0.75 intronic rs72653463 ACSM4 AU NM_001080454 exon1 c.201+64T>C 0.113818 0.2808 Uncertain 12_7463241_A->T 12 7463241 7463241 A T snp 701.77 0/1 99 71 41 30 0.42 exonic rs7968241 ACSM4 AU synonymous SNV NM_001080454 exon3 c.A519T p.P173P 0.323083 0.3502 0.431744 0.4474 0.3772 Uncertain 12_7463398_T->C 12 7463398 7463398 T C snp 893.77 0/1 99 58 19 39 0.67 intronic rs10843387 ACSM4 AU NM_001080454 exon3 c.6415+56T>C 0.102037 0.1776 Uncertain 12_7463491_C->G 12 7463491 7463491 C G snp 301.78 1/1 24 9 0 9 1.0 intronic rs7962994 ACSM4 AU NM_001080454 exon3 c.6415+149C>G 0.996006 1 Uncertain 12_7470534_A->T 12 7470534 7470534 A T snp 118.77 0/1 99 11 6 5 0.45 intronic rs7968312 ACSM4 AU NM_001080454 exon5 c.13694-87A>T 0.909545 0.8224 Uncertain 12_7477298_G->A 12 7477298 7477298 G A snp 1088.77 1/1 81 30 0 30 1.0 intronic rs10743732 ACSM4 AU NM_001080454 exon11 c.20267+104G>A 0.618211 0.5734 Uncertain 12_7481085_T->C 12 7481085 7481085 T C snp 220.77 0/1 99 23 12 11 0.48 downstream rs11051240 ACSM4 AU 0.0870607 0.1796 Uncertain 12_7525795_C->T 12 7525795 7525795 C T snp 390.77 1/1 30 13 0 13 1.0 intronic rs10845007 CD163L1 AU NM_174941 exon7 c.15916-120C>T 0.816294 0.8046 Uncertain 12_7525865_G->C 12 7525865 7525865 G C snp 413.77 0/1 99 32 15 17 0.53 intronic rs11053518 CD163L1 AU NM_174941 exon7 c.15916-50G>C 0.5623 0.5615 0.655183 0.6603 0.5633 Uncertain 12_7528041_G->A 12 7528041 7528041 G A snp 1922.77 0/1 99 163 79 84 0.52 exonic rs74352089 CD163L1 AU nonsynonymous SNV NM_174941 exon11 c.C2837T p.A946V 0.00299521 0.0139 0.000077 0.0016 0.0214 0.08 T 0.982 N -0.984 T 1.0 D 1.0 D Pathogenic 12_7528471_G->A 12 7528471 7528471 G A snp 2153.77 0/1 99 208 125 83 0.4 exonic rs7306824 CD163L1 AU synonymous SNV NM_174941 exon10 c.C2511T p.N837N 0.463858 0.4752 0.355067 0.3673 0.4754 Uncertain 12_7548996_C->G 12 7548996 7548996 C G snp 1720.77 0/1 99 135 63 72 0.53 exonic rs4072796 CD163L1 AU nonsynonymous SNV NM_174941 exon8 c.G1745C p.G582A 0.165136 0.2073 0.091958 0.0969 0.2076 1 T 0.0 P -0.979 T 0.057 T 0.032 T Pathogenic 12_7549009_C->T 12 7549009 7549009 C T snp 1495.77 0/1 99 117 53 64 0.55 exonic rs4072797 CD163L1 AU nonsynonymous SNV NM_174941 exon8 c.G1732A p.D578N 0.180312 0.2073 0.115562 0.1084 0.2181 0.59 T 0.0 P -0.982 T 0.0 T 0.0 T Pathogenic 12_7551022_A->T 12 7551022 7551022 A T snp 8368.77 1/1 99 250 0 250 1.0 exonic rs6488268 CD163L1 AU nonsynonymous SNV NM_174941 exon7 c.T1567A p.L523M 0.99381 1 0.991312 0.9977 1 0.13 T 0.0 P -0.902 T 0.724 T 0.589 P Pathogenic 12_7551050_A->C 12 7551050 7551050 A C snp 8265.77 1/1 99 250 0 250 1.0 exonic rs6488269 CD163L1 AU synonymous SNV NM_174941 exon7 c.T1539G p.V513V 0.99381 1 0.991389 0.9976 1 Uncertain 12_7551222_G->C 12 7551222 7551222 G C snp 1401.77 0/1 99 106 56 50 0.47 intronic rs7489145 CD163L1 AU NM_174941 exon14 c.41181+42G>C 0.180312 0.2073 0.115485 0.0878 0.1938 Uncertain 12_7551307_A->G 12 7551307 7551307 A G snp 265.77 0/1 99 13 5 8 0.62 intronic rs7487128 CD163L1 AU NM_174941 exon14 c.41181+127A>G 0.180312 0.2073 Uncertain 12_7585247_T->C 12 7585247 7585247 T C snp 7120.77 1/1 99 249 0 249 1.0 exonic rs58195891 CD163L1 AU synonymous SNV NM_174941 exon4 c.A531G p.G177G 0.605831 0.6409 0.464709 0.4495 0.6247 Uncertain 12_7585443_-->A 12 7585443 7585443 - A indel 269.73 0/1 99 29 7 22 0.76 intronic rs141002179 CD163L1 AU NM_174941 exon17 c.75333+111insA 0.0688898 0.1657 Uncertain 12_7591536_T->A 12 7591536 7591536 T A snp 719.77 0/1 99 77 44 33 0.43 intronic rs59581534 CD163L1 AU NM_174941 exon19 c.83750-2213T>A 0.179912 0.2073 Uncertain 12_7591715_T->G 12 7591715 7591715 T G snp 1056.77 0/1 99 98 49 49 0.5 intronic rs58992912 CD163L1 AU NM_174941 exon19 c.83750-2034T>G 0.160343 0.2083 Uncertain 12_7592194_T->C 12 7592194 7592194 T C snp 320.77 0/1 99 17 6 11 0.65 intronic rs61748920 CD163L1 AU NM_174941 exon19 c.83750-1555T>C 0.177915 0.2024 Uncertain 12_7596855_T->C 12 7596855 7596855 T C snp 2277.77 1/1 99 72 0 72 1.0 upstream rs7954905 CD163L1 AU 0.678115 0.7768 Uncertain 12_7632376_T->C 12 7632376 7632376 T C snp 497.77 0/1 99 55 32 23 0.42 intronic rs12304718 CD163 AU 0.129992 0.1736 Uncertain 12_7635793_G->A 12 7635793 7635793 G A snp 41.77 0/1 70 4 2 2 0.5 intronic rs6488340 CD163 AU NM_004244 exon6 c.3498-169G>A 0.689696 0.6141 Uncertain 12_7649484_T->C 12 7649484 7649484 T C snp 1843.77 0/1 99 181 99 82 0.45 exonic rs4883263 CD163 AU nonsynonymous SNV NM_004244 exon5 c.A1024G p.I342V 0.76258 0.6905 0.852145 0.8870 0.6962 0.09 T 0.0 P -1.020 T 0.004 T 0.007 T Pathogenic 12_7651924_G->A 12 7651924 7651924 G A snp 289.77 0/1 99 17 8 9 0.53 intronic rs6488359 CD163 AU NM_004244 exon14 c.19320+140G>A 0.771366 0.6905 Uncertain 12_7818348_-->ACAC 12 7818348 7818348 - ACAC indel 764.7 0/1 99 44 6 38 0.86 intronic APOBEC1 AU NM_001644 exon5 c.16310-104insACAC Uncertain 12_7847940_C->T 12 7847940 7847940 C T snp 518.77 1/1 39 13 0 13 1.0 intronic rs6488591 GDF3 AU NM_020634 exon2 c.5583-116C>T Uncertain 12_7868777_-->T 12 7868777 7868777 - T indel 301.73 0/1 99 27 14 13 0.48 intronic rs34619457 DPPA3 AU NM_199286 exon3 c.4627-16insT 0.4204 0.3566 Uncertain 12_7869701_G->C 12 7869701 7869701 G C snp 551.77 1/1 42 18 0 18 1.0 UTR3 rs11055388 DPPA3 AU 0.9793 0.9999 Uncertain 12_7889921_T->- 12 7889921 7889921 T - indel 454.73 1/1 45 24 4 20 0.83 intronic rs35561801 CLEC4C AU NM_130441 exon3 c.7833-103delT 0.308706 0.4345 Uncertain 12_7942595_G->A 12 7942595 7942595 G A snp 31.77 0/1 60 4 2 2 0.5 intronic rs11055765 NANOG AU NM_024865 exon1 c.151+234G>A 0.110823 0.1776 Uncertain 12_7945829_G->C 12 7945829 7945829 G C snp 5321.77 1/1 99 189 0 189 1.0 intronic rs4242903 NANOG AU NM_024865 exon2 c.3598+21G>C 0.994808 1 0.997211 0.9991 1 Uncertain 12_7966908_T->C 12 7966908 7966908 T C snp 233.77 0/1 99 85 64 21 0.25 UTR3 rs3741856 SLC2A14 AU 0.212352 0.2737 0.3112 Uncertain 12_7966975_C->T 12 7966975 7966975 C T snp 543.77 0/1 99 140 98 42 0.3 exonic rs10845982 SLC2A14 AU synonymous SNV NM_001286236 exon10 c.G1173A p.G391G 0.2840 0.1982 Uncertain 12_7970335_-->AAATATAGATAG 12 7970335 7970335 - AAATATAGATAG indel 1193.74 1/1 30 10 0 10 1.0 intronic SLC2A14 AU NM_153449 exon2 c.3515-91insAAATATAGATAG Uncertain 12_7970339_T->G 12 7970339 7970339 T G snp 377.77 1/1 30 10 0 10 1.0 intronic rs112165473 SLC2A14 AU NM_153449 exon2 c.3515-87T>G Uncertain 12_7970343_T->G 12 7970343 7970343 T G snp 377.77 1/1 30 10 0 10 1.0 intronic rs3040793 SLC2A14 AU NM_153449 exon2 c.3515-83T>G 0.570288 0.5833 Uncertain 12_7970347_T->G 12 7970347 7970347 T G snp 461.77 1/1 36 12 0 12 1.0 intronic rs3040789 SLC2A14 AU NM_153449 exon2 c.3515-79T>G 0.59405 0.5853 Uncertain 12_7980035_T->C 12 7980035 7980035 T C snp 2824.77 1/1 99 114 0 114 1.0 intronic rs10846003 SLC2A14 AU NM_153449 exon5 c.13179-55T>C 0.97484 1 Uncertain 12_7980178_C->T 12 7980178 7980178 C T snp 538.77 0/1 99 126 98 28 0.22 exonic rs1043712 SLC2A14 AU synonymous SNV NM_001286236 exon6 c.G519A p.L173L 0.160743 0.1558 0.0343 0.0826 Uncertain 12_7980306_-->A 12 7980306 7980306 - A indel 1528.73 1/1 99 43 0 43 1.0 intronic rs397755568 SLC2A14 AU NM_153449 exon5 c.13367+28insA 0.976038 1 0.0704 0.0441 Uncertain 12_7980452_C->T 12 7980452 7980452 C T snp 148.77 0/1 99 10 5 5 0.5 intronic rs73254726 SLC2A14 AU NM_153449 exon5 c.13367+174C>T 0.152157 0.1637 Uncertain 12_7982754_T->- 12 7982754 7982754 T - indel 113.8 1/1 18 18 0 18 1.0 intronic rs71038781 SLC2A14 AU NM_153449 exon7 c.15691+152delT 0.604034 0.4921 Uncertain 12_8074055_T->C 12 8074055 8074055 T C snp 406.77 0/1 99 189 150 39 0.21 exonic rs199523896 SLC2A3 AU nonsynonymous SNV NM_006931 exon10 c.A1445G p.E482G 0.2705 0.1996 0.24 T 0.940 D -0.552 T 0.311 T 0.185 T Pathogenic 12_8074192_G->A 12 8074192 8074192 G A snp 794.77 0/1 99 75 42 33 0.44 exonic rs25684 SLC2A3 AU synonymous SNV NM_006931 exon10 c.C1308T p.T436T 0.327676 0.1825 0.421805 0.4104 0.2076 Uncertain 12_8075286_C->T 12 8075286 8075286 C T snp 391.77 1/1 30 10 0 10 1.0 intronic rs9668489 SLC2A3 AU NM_006931 exon2 c.1408-130C>T 0.908546 0.9702 Uncertain 12_8075685_A->G 12 8075685 8075685 A G snp 486.77 0/1 99 36 13 23 0.64 intronic rs741361 SLC2A3 AU NM_006931 exon2 c.1612+65A>G 0.341054 0.4454 Uncertain 12_8088766_T->C 12 8088766 8088766 T C snp 125.03 1/1 12 4 0 4 1.0 UTR5 rs2541281 SLC2A3 AU 0.991414 1 Uncertain 12_8090271_C->T 12 8090271 8090271 C T snp 133.03 1/1 12 4 0 4 1.0 intergenic rs11056574 SLC2A3 AU 0.994409 1 Uncertain 12_8090505_C->G 12 8090505 8090505 C G snp 523.77 1/1 39 18 0 18 1.0 intergenic rs12321738 SLC2A3 AU 0.60024 0.6081 Uncertain 12_8090839_T->C 12 8090839 8090839 T C snp 844.77 1/1 29 29 1 28 0.97 intergenic rs7309332 SLC2A3 AU 0.644569 0.7212 Uncertain 12_8235173_T->- 12 8235173 8235173 T - indel 329.73 1/1 39 32 0 32 1.0 intronic rs398018335 NECAP1 AR NM_015509 exon1 c.95+194delT 0.958067 0.9792 Uncertain 12_8276432_C->T 12 8276432 8276432 C T snp 2265.77 1/1 99 78 1 77 0.99 UTR5 rs7295783 CLEC4A AU 0.812101 0.9752 0.840228 0.9292 0.9781 Uncertain 12_8278181_A->T 12 8278181 8278181 A T snp 2642.77 0/1 99 250 136 114 0.46 exonic rs2024301 CLEC4A AU nonsynonymous SNV NM_016184 exon2 c.A107T p.H36L 0.509585 0.5208 0.582423 0.5970 0.5373 0.49 T 0.0 P -0.932 T 0.97 D 0.714 D Pathogenic 12_8286762_G->C 12 8286762 8286762 G C snp 1557.77 1/1 99 47 0 47 1.0 ncRNA_exonic rs7315526 POU5F1P3 AU 0.776957 0.9375 Uncertain 12_8287048_C->T 12 8287048 8287048 C T snp 1169.77 1/1 87 33 0 33 1.0 ncRNA_exonic rs11043498 POU5F1P3 AU 0.774561 0.9395 0.8724 0.9397 Uncertain 12_8288098_T->C 12 8288098 8288098 T C snp 209.84 1/1 18 8 0 8 1.0 intronic rs10840746 CLEC4A AU NM_016184 exon4 c.11706-82T>C Uncertain 12_8289226_G->A 12 8289226 8289226 G A snp 549.77 1/1 42 15 0 15 1.0 intronic rs4322490 CLEC4A AU NM_016184 exon5 c.12909-157G>A 0.788738 0.9395 Uncertain 12_8289300_T->C 12 8289300 8289300 T C snp 2198.77 1/1 99 71 0 71 1.0 intronic rs4573763 CLEC4A AU NM_016184 exon5 c.12909-83T>C 0.788538 0.9395 Uncertain 12_8374770_G->A 12 8374770 8374770 G A snp 449.77 1/1 33 19 0 19 1.0 exonic rs9668474 FAM90A1 AU nonsynonymous SNV NM_018088 exon7 c.C1043T p.T348I 0.986821 1 0.987381 0.9964 1 0.37 T 0.0 P -1.061 T 0.0 T 0.0 T Pathogenic 12_8374781_-->ACG 12 8374781 8374781 - ACG indel 1269.73 1/1 60 20 0 20 1.0 exonic rs71265055 FAM90A1 AU nonframeshift insertion NM_018088 exon7 c.1031_1032insCGT p.T344delinsTV 0.432708 0.5764 0.525304 0.5769 0.5080 ID=COSM943980;OCCURENCE=1(breast),1(endometrium) Uncertain 12_8509576_T->C 12 8509576 8509576 T C snp 646.77 0/1 99 30 9 21 0.7 ncRNA_exonic rs2859693 LINC00937 AU 0.433706 0.5913 0.2729 0.5808 Uncertain 12_8509668_C->T 12 8509668 8509668 C T snp 1189.77 0/1 99 97 39 58 0.6 ncRNA_exonic rs12578609 LINC00937 AU 0.366414 0.5903 0.2630 0.5825 Uncertain 12_8509793_T->G 12 8509793 8509793 T G snp 208.77 0/1 99 20 10 10 0.5 ncRNA_intronic rs12580094 LINC00937 AU 0.434105 0.5913 Uncertain 12_8608583_A->G 12 8608583 8608583 A G snp 353.78 1/1 27 14 0 14 1.0 upstream rs4528410 CLEC6A AU 0.795727 0.9921 Uncertain 12_8610352_G->C 12 8610352 8610352 G C snp 54.74 1/1 6 2 0 2 1.0 intronic rs4402377 CLEC6A AU NM_001007033 exon2 c.1786-141G>C 0.795128 0.9921 Uncertain 12_8612336_G->C 12 8612336 8612336 G C snp 4414.77 1/1 99 164 0 164 1.0 intronic rs10770736 CLEC6A AU NM_001007033 exon3 c.3587+42G>C 0.780751 0.9921 0.719591 0.7927 0.9898 Uncertain 12_8612481_A->G 12 8612481 8612481 A G snp 416.77 1/1 33 11 0 11 1.0 intronic rs12300621 CLEC6A AU NM_001007033 exon3 c.3587+187A>G 0.78115 0.9921 Uncertain 12_8612484_T->C 12 8612484 8612484 T C snp 374.77 1/1 30 10 0 10 1.0 intronic rs12302015 CLEC6A AU NM_001007033 exon3 c.3587+190T>C 0.78155 0.9921 Uncertain 12_8617976_A->T 12 8617976 8617976 A T snp 682.77 1/1 51 18 0 18 1.0 intronic rs7302011 CLEC6A AU NM_001007033 exon4 c.9372-103A>T 0.808906 0.9921 Uncertain 12_8617982_G->A 12 8617982 8617982 G A snp 811.77 1/1 60 21 0 21 1.0 intronic rs7315873 CLEC6A AU NM_001007033 exon4 c.9372-97G>A 0.808906 0.9921 Uncertain 12_8666378_C->A 12 8666378 8666378 C A snp 864.77 0/1 99 85 46 39 0.46 intronic rs11045985 CLEC4D AU NM_080387 exon1 c.28+22C>A 0.288339 0.1181 0.322620 0.2408 0.1420 Uncertain 12_8667897_A->G 12 8667897 8667897 A G snp 1539.77 0/1 99 151 79 72 0.48 exonic rs4304840 CLEC4D AU nonsynonymous SNV NM_080387 exon2 c.A94G p.S32G 0.300319 0.122 0.338844 0.2464 0.1426 0.2 T 0.000 P -1.001 T 0.003 T 0.001 T Pathogenic 12_8670978_A->G 12 8670978 8670978 A G snp 146.77 0/1 99 12 7 5 0.42 intronic rs74059866 CLEC4D AU NM_080387 exon3 c.4542+108A>G 0.184904 0.0536 Uncertain 12_8672901_G->A 12 8672901 8672901 G A snp 1662.77 0/1 99 140 72 68 0.49 exonic rs139845503 CLEC4D AU nonsynonymous SNV NM_080387 exon5 c.G464A p.R155H 0.000077 3.296e-05 0.0002 1 N -0.954 T 0.0 T 0.001 T Pathogenic 12_8693240_C->A 12 8693240 8693240 C A snp 298.78 1/1 24 14 1 13 0.93 intronic rs5014225 CLEC4E AU NM_014358 exon6 c.6123-116C>A 0.724441 0.63 Uncertain 12_8693245_-->C 12 8693245 8693245 - C indel 524.73 1/1 42 14 0 14 1.0 intronic rs34396368 CLEC4E AU NM_014358 exon6 c.6123-111insC Uncertain 12_8693333_G->A 12 8693333 8693333 G A snp 1168.77 1/1 81 51 0 51 1.0 intronic rs4620776 CLEC4E AU NM_014358 exon6 c.6123-23G>A 0.729633 0.631 0.774719 0.7339 0.6284 Uncertain 12_8693419_-->TCTC 12 8693419 8693419 - TCTC indel 822.73 1/1 42 24 0 24 1.0 UTR5 rs145952293 CLEC4E AU 0.5422 0.5193 Uncertain 12_8757481_G->A 12 8757481 8757481 G A snp 170.77 0/1 99 25 16 9 0.36 exonic rs2028373 AICDA AR synonymous SNV NM_020661 exon4 c.C465T p.H155H 0.484225 0.4812 0.549351 0.5904 0.5021 0.492 P -0.966 T Likely benign 12_8757522_-->A 12 8757522 8757522 - A indel 125.77 1/1 21 12 0 12 1.0 splicing rs397718057 AICDA AR NM_020661 exon2 c.639+4insA 0.642372 0.7609 0.5635 0.5994 Pathogenic 12_8759445_C->T 12 8759445 8759445 C T snp 2222.77 1/1 99 88 0 88 1.0 intronic rs2518144 AICDA AR NM_020661 exon4 c.2581-15C>T 0.632588 0.7808 0.540148 0.5323 0.7971 Uncertain 12_8765447_T->C 12 8765447 8765447 T C snp 1786.77 1/1 99 66 0 66 1.0 upstream rs1345004 AICDA AR 0.995407 1 0.994963 Uncertain 12_8808006_T->C 12 8808006 8808006 T C snp 2282.77 1/1 99 81 0 81 1.0 splicing rs11046589 MFAP5 AD NM_003480 exon6 c.7324-4T>C 0.429313 0.4554 0.404736 0.4165 0.4314 Pathogenic 12_8808222_C->T 12 8808222 8808222 C T snp 546.77 0/1 99 34 15 19 0.56 intronic rs79153086 MFAP5 AD NM_003480 exon7 c.7695-159C>T 0.0634984 0.0694 Uncertain 12_8926011_T->C 12 8926011 8926011 T C snp 3689.77 1/1 99 138 0 138 1.0 exonic rs2969089 RIMKLB AU synonymous SNV NM_001297776 exon6 c.T792C p.D264D 0.998403 1 0.998412 0.9996 1 Uncertain 12_8975605_A->G 12 8975605 8975605 A G snp 539.77 1/1 42 14 0 14 1.0 intronic rs7297690 A2ML1 AU NM_144670 exon2 c.530-172A>G 0.358027 0.4484 Uncertain 12_8988403_A->C 12 8988403 8988403 A C snp 159.9 1/1 15 5 0 5 1.0 intronic rs4883188 A2ML1 AU NM_144670 exon6 c.13015+141A>C 0.948882 1 Uncertain 12_8988777_A->G 12 8988777 8988777 A G snp 1577.77 1/1 99 50 0 50 1.0 intronic rs1894814 A2ML1 AU NM_144670 exon7 c.13603-73A>G 0.846046 1 Uncertain 12_8989916_A->G 12 8989916 8989916 A G snp 940.77 1/1 72 25 0 25 1.0 intronic rs11047510 A2ML1 AU NM_144670 exon8 c.14788-119A>G 0.853435 0.9722 Uncertain 12_8990813_A->G 12 8990813 8990813 A G snp 1051.77 1/1 78 28 0 28 1.0 intronic rs10743504 A2ML1 AU NM_144670 exon9 c.15684-118A>G 0.85643 1 Uncertain 12_8994212_T->C 12 8994212 8994212 T C snp 594.77 1/1 45 15 0 15 1.0 intronic rs1468695 A2ML1 AU NM_144670 exon11 c.18885+80T>C 0.934305 1 Uncertain 12_9004512_G->A 12 9004512 9004512 G A snp 4099.77 1/1 99 157 0 157 1.0 exonic rs1860927 A2ML1 AU synonymous SNV NM_144670 exon19 c.G2367A p.P789P 0.868211 1 0.807824 0.8700 0.9999 Uncertain 12_9004667_G->C 12 9004667 9004667 G C snp 2340.77 1/1 99 76 0 76 1.0 intronic rs4882965 A2ML1 AU NM_144670 exon19 c.29361+59G>C 0.516374 0.7798 Uncertain 12_9004892_C->A 12 9004892 9004892 C A snp 2951.77 1/1 99 111 0 111 1.0 exonic rs1860926 A2ML1 AU nonsynonymous SNV NM_144670 exon20 c.C2550A p.D850E 0.966054 1 0.964704 0.9898 1 1 T 0.0 P -0.989 T 0.0 T 0.0 T Pathogenic 12_9007226_AGTTCTTCTGAGCTTC->- 12 9007226 9007241 AGTTCTTCTGAGCTTC - indel 1893.73 1/1 33 11 0 11 1.0 intronic rs59762656 A2ML1 AU NM_144670 exon22 c.32128-149_32128-134delAGTTCTTCTGAGCTTC 0.504193 0.7629 Uncertain 12_9008318_G->C 12 9008318 9008318 G C snp 423.77 1/1 33 13 0 13 1.0 intronic rs1468711 A2ML1 AU NM_144670 exon23 c.32941+130G>C 0.512979 0.7619 Uncertain 12_9013755_C->T 12 9013755 9013755 C T snp 3057.77 1/1 99 117 0 117 1.0 exonic rs1860967 A2ML1 AU nonsynonymous SNV NM_144670 exon28 c.C3364T p.R1122W 0.432308 0.7857 0.301650 0.4321 0.7849 0.19 T 0.0 P -0.976 T 0.919 T 0.601 D Pathogenic 12_9016573_A->G 12 9016573 9016573 A G snp 779.77 1/1 57 27 0 27 1.0 exonic rs10219561 A2ML1 AU nonsynonymous SNV NM_144670 exon29 c.A3686G p.H1229R 0.967851 1 0.968115 0.9911 1 0.13 T 0.0 P -0.939 T 0.0 T 0.0 T Pathogenic 12_9020489_A->G 12 9020489 9020489 A G snp 4874.77 1/1 99 180 0 180 1.0 exonic rs7308811 A2ML1 AU nonsynonymous SNV NM_144670 exon30 c.A3769G p.M1257V 0.852636 1 0.777458 0.8591 0.9998 0.17 T 0.0 P -0.931 T 0.0 T 0.0 T Pathogenic 12_9020912_A->G 12 9020912 9020912 A G snp 4469.77 1/1 99 154 0 154 1.0 exonic rs1476910 A2ML1 AU synonymous SNV NM_144670 exon31 c.A4020G p.Q1340Q 0.677716 0.5427 0.746482 0.7352 0.4974 Uncertain 12_9021053_-->GTGT 12 9021053 9021053 - GTGT indel 2820.73 1/1 99 71 0 71 1.0 intronic rs3079166 A2ML1 AU NM_144670 exon32 c.45885-79insGTGT 0.377995 0.3879 Uncertain 12_9021316_-->AC 12 9021316 9021316 - AC indel 214.8 1/1 18 12 0 12 1.0 intronic rs142149017 A2ML1 AU NM_144670 exon32 c.45976+93insAC 0.648163 0.5228 Uncertain 12_9068472_G->T 12 9068472 9068472 G T snp 1599.77 1/1 99 52 0 52 1.0 intronic rs10771204 PHC1 AR 0.813299 0.7768 Uncertain 12_9068813_C->T 12 9068813 9068813 C T snp 713.77 1/1 54 20 0 20 1.0 intronic rs7304121 PHC1 AR 0.807708 0.749 Uncertain 12_9070366_T->A 12 9070366 9070366 T A snp 3171.77 1/1 99 114 0 114 1.0 exonic rs4883198 PHC1 AR synonymous SNV NM_004426 exon2 c.T93A p.L31L 0.6877 0.749 0.681993 0.7188 0.7566 Uncertain 12_9070578_T->C 12 9070578 9070578 T C snp 93.28 1/1 9 3 0 3 1.0 intronic rs4883199 PHC1 AR NM_004426 exon2 c.114+191T>C 0.816893 0.7778 Uncertain 12_9074259_C->T 12 9074259 9074259 C T snp 5504.77 1/1 99 192 0 192 1.0 exonic rs1805741 PHC1 AR synonymous SNV NM_004426 exon5 c.C369T p.P123P 0.633387 0.7202 0.6945 0.7274 Uncertain 12_9082855_A->G 12 9082855 9082855 A G snp 793.77 1/1 60 22 0 22 1.0 intronic rs1805778 PHC1 AR NM_004426 exon7 c.12757-175A>G 0.818091 0.7788 Uncertain 12_9083336_A->G 12 9083336 9083336 A G snp 525.77 1/1 42 15 0 15 1.0 exonic rs1805777 PHC1 AR synonymous SNV NM_004426 exon7 c.A918G p.R306R 0.7335 0.5311 Uncertain 12_9086683_A->T 12 9086683 9086683 A T snp 7355.77 1/1 99 250 1 249 1.0 intronic rs1805735 PHC1 AR NM_004426 exon9 c.16335+75A>T 0.720248 0.4563 Uncertain 12_9086898_A->G 12 9086898 9086898 A G snp 7541.77 1/1 99 250 1 249 1.0 exonic rs1049925 PHC1 AR nonsynonymous SNV NM_004426 exon10 c.A2077G p.T693A 0.353435 0.4107 0.359373 0.4013 0.4002 0.35 T 0.000 P -0.908 T 0.0 T 0.0 T Pathogenic 12_9087907_TAG->- 12 9087907 9087909 TAG - indel 2438.73 1/1 99 50 0 50 1.0 intronic rs113120861 PHC1 AR NM_004426 exon11 c.17561+73_17561+75delTAG 0.359425 0.4137 Uncertain 12_9089345_-->G 12 9089345 9089345 - G indel 282.74 1/1 27 9 0 9 1.0 intronic rs35310025 PHC1 AR NM_004426 exon12 c.19178-106insG 0.358826 0.4117 Uncertain 12_9090086_G->A 12 9090086 9090086 G A snp 309.78 1/1 24 10 0 10 1.0 intronic rs12371786 PHC1 AR NM_004426 exon13 c.19649+164G>A 0.345647 0.4127 Uncertain 12_9094548_A->G 12 9094548 9094548 A G snp 3620.77 1/1 99 142 1 141 0.99 intronic rs1805765 M6PR AU NM_002355 exon1 c.123+12A>G 0.349441 0.4335 0.347071 0.4325 0.4370 Uncertain 12_9097933_C->A 12 9097933 9097933 C A snp 660.77 1/1 48 22 0 22 1.0 intronic rs1805725 M6PR AU NM_002355 exon5 c.3600-80C>A 0.739816 0.4464 Uncertain 12_9142297_T->C 12 9142297 9142297 T C snp 6459.77 1/1 99 249 0 249 1.0 exonic rs1805723 KLRG1 AU synonymous SNV NM_005810 exon1 c.T66C p.Y22Y 0.345647 0.3998 0.353452 0.4233 0.4026 Uncertain 12_9145056_T->C 12 9145056 9145056 T C snp 56.74 1/1 6 2 0 2 1.0 intronic rs1805722 KLRG1 AU NM_005810 exon2 c.2675+150T>C 0.345248 0.4008 Uncertain 12_9147569_G->A 12 9147569 9147569 G A snp 135.03 1/1 12 4 0 4 1.0 intronic rs1805721 KLRG1 AU NM_005810 exon3 c.5483-145G>A 0.332668 0.4008 Uncertain 12_9161407_A->C 12 9161407 9161407 A C snp 641.77 1/1 48 19 0 19 1.0 intronic rs61915986 KLRG1 AU NM_005810 exon4 c.19339-163A>C 0.252196 0.379 Uncertain 12_9161411_C->A 12 9161411 9161411 C A snp 795.77 1/1 60 25 0 25 1.0 intronic rs7302472 KLRG1 AU NM_005810 exon4 c.19339-159C>A 0.413339 0.3819 Uncertain 12_9161648_T->C 12 9161648 9161648 T C snp 2472.77 1/1 99 87 0 87 1.0 exonic rs3026251 KLRG1 AU synonymous SNV NM_005810 exon4 c.T435C p.D145D 0.253395 0.379 0.223666 0.2909 0.3716 Uncertain 12_9161804_C->A 12 9161804 9161804 C A snp 256.8 1/1 21 7 0 7 1.0 intronic rs3741854 KLRG1 AU NM_005810 exon4 c.19440+133C>A 0.257388 0.379 Uncertain 12_9205540_T->A 12 9205540 9205540 T A snp 206.77 0/1 63 12 3 9 0.75 intergenic rs2216143 KLRG1 AU 0.467851 0.126 Uncertain 12_9220729_G->A 12 9220729 9220729 G A snp 1527.77 0/1 99 126 55 71 0.56 intronic rs7955940 A2M AD NM_000014 exon2 c.360-49G>A 0.31869 0.0804 0.390823 0.3301 0.0894 Uncertain 12_9221199_G->A 12 9221199 9221199 G A snp 179.77 0/1 99 13 7 6 0.46 intronic rs3759277 A2M AD NM_000014 exon3 c.917-136G>A 0.46865 0.126 Uncertain 12_9222286_C->T 12 9222286 9222286 C T snp 1735.77 0/1 99 134 64 70 0.52 intronic rs1805664 A2M AD NM_000014 exon4 c.1922-54C>T 0.213658 0.0804 0.287998 Uncertain 12_9222902_A->G 12 9222902 9222902 A G snp 56.74 1/1 6 2 0 2 1.0 intronic rs10771310 A2M AD NM_000014 exon5 c.2665-181A>G 0.293331 0.0804 Uncertain 12_9227058_T->A 12 9227058 9227058 T A snp 287.77 0/1 99 24 15 9 0.38 intronic rs1805660 A2M AD NM_000014 exon8 c.6737-97T>A 0.305112 0.0823 Uncertain 12_9230038_C->T 12 9230038 9230038 C T snp 1197.77 0/1 99 105 53 52 0.5 intronic rs2377682 A2M AD NM_000014 exon10 c.9598+22C>T 0.305911 0.0823 0.382493 0.3482 0.1041 Uncertain 12_9230131_G->A 12 9230131 9230131 G A snp 589.77 0/1 99 62 35 27 0.44 intronic rs1805653 A2M AD NM_000014 exon10 c.9598+115G>A 0.323283 0.0823 Uncertain 12_9230572_G->T 12 9230572 9230572 G T snp 437.77 0/1 99 34 18 16 0.47 intronic rs1805652 A2M AD NM_000014 exon11 c.10035+119G>T 0.323482 0.0823 Uncertain 12_9232268_T->C 12 9232268 9232268 T C snp 512.77 0/1 99 57 35 22 0.39 exonic rs669 A2M AD nonsynonymous SNV NM_000014 exon24 c.A2998G p.I1000V 0.254393 0.0823 0.319653 0.3102 0.0931 0.17 T 0.0 P -0.937 T 0.019 T 0.02 T CLINSIG=non-pathogenic|other;CLNDBN=ALPHA-2-MACROGLOBULIN_POLYMORPHISM|Alzheimer_disease\x2c_susceptibility_to;CLNREVSTAT=no_assertion_criteria_provided|no_assertion_criteria_provided;CLNACC=RCV000019801.1|RCV000019802.1;CLNDSDB=.|.;CLNDSDBID=.|. ID=CM980001;DIS=Alzheimer disease, association with;TAG=DP;PUB=9811940 DP Pathogenic 12_9242924_G->C 12 9242924 9242924 G C snp 2256.77 0/1 99 183 88 95 0.52 intronic rs2193005 A2M AD NM_000014 exon17 c.22533-27G>C 0.243411 0.0764 0.312096 0.3062 0.0915 Uncertain 12_9248233_T->C 12 9248233 9248233 T C snp 2331.77 1/1 99 95 0 95 1.0 exonic rs226405 A2M AD nonsynonymous SNV NM_000014 exon16 c.A1915G p.N639D 0.997804 1 0.997653 0.9995 1 0.65 T 0.0 P -1.018 T 0.0 T 0.0 T Pathogenic 12_9248332_T->C 12 9248332 9248332 T C snp 616.77 0/1 99 33 14 19 0.58 intronic rs55933766 A2M AD NM_000014 exon21 c.27878+36T>C 0.189696 0.3403 0.126600 0.2131 0.3488 Uncertain 12_9253894_C->T 12 9253894 9253894 C T snp 1102.77 1/1 42 42 1 41 0.98 intronic rs226397 A2M AD NM_000014 exon24 c.33385+91C>T 0.915935 0.7748 Uncertain 12_9256708_C->T 12 9256708 9256708 C T snp 182.77 0/1 99 18 11 7 0.39 intronic rs226390 A2M AD NM_000014 exon26 c.36416-126C>T 0.473243 0.122 Uncertain 12_9258821_A->G 12 9258821 9258821 A G snp 1444.77 0/1 99 144 80 64 0.44 intronic rs12427063 A2M AD NM_000014 exon27 c.38413-10A>G 0.285343 0.3591 0.289338 0.3564 0.3464 Uncertain 12_9260280_T->C 12 9260280 9260280 T C snp 721.77 0/1 99 66 37 29 0.44 intronic rs226388 A2M AD NM_000014 exon29 c.39822+40T>C 0.471046 0.122 0.585120 0.4733 0.1277 Uncertain 12_9262727_T->G 12 9262727 9262727 T G snp 88.77 0/1 99 8 4 4 0.5 intronic rs226386 A2M AD NM_000014 exon31 c.42213+96T>G 0.472045 0.125 Uncertain 12_9264946_T->G 12 9264946 9264946 T G snp 1911.77 0/1 99 177 89 88 0.5 intronic rs226383 A2M AD NM_000014 exon34 c.44554-26T>G 0.262181 0.0784 0.335129 0.3142 0.0952 Uncertain 12_9268473_A->C 12 9268473 9268473 A C snp 715.77 0/1 99 45 18 27 0.6 UTR5 rs226380 A2M AD 0.473243 0.124 0.586266 0.4753 0.1318 1 T 0.019 P -0.937 T Uncertain 12_9268549_C->T 12 9268549 9268549 C T snp 145.77 0/1 99 16 8 8 0.5 UTR5 rs16918022 A2M AD 0.00239617 0.0099 Uncertain 12_9268585_T->C 12 9268585 9268585 T C snp 74.77 0/1 99 8 5 3 0.38 upstream rs226379 A2M AD 0.285144 0.0784 Uncertain 12_9302313_A->G 12 9302313 9302313 A G snp 152.78 0/1 27 8 2 6 0.75 intronic rs2303615 PZP AU NM_002864 exon2 c.631+115A>G 0.189896 0.0655 Uncertain 12_9303296_A->T 12 9303296 9303296 A T snp 2705.77 0/1 99 248 138 110 0.44 exonic rs10842971 PZP AU nonsynonymous SNV NM_002864 exon34 c.T4328A p.I1443N 0.190495 0.0655 0.244810 0.2682 0.0716 0.16 T 0.000 P -0.998 T 0.999 D 0.966 D Pathogenic 12_9305473_T->C 12 9305473 9305473 T C snp 1806.77 0/1 99 166 84 82 0.49 exonic rs10771357 PZP AU synonymous SNV NM_002864 exon31 c.A4068G p.Q1356Q 0.655152 0.8899 0.601569 0.6360 0.8890 Uncertain 12_9307373_T->G 12 9307373 9307373 T G snp 2220.77 1/1 99 75 0 75 1.0 exonic rs2377741 PZP AU nonsynonymous SNV NM_002864 exon29 c.A3613C p.T1205P 0.983427 1 0.977703 0.9943 1 1 T 0.0 P -0.905 T 0.0 T 0.0 T Pathogenic 12_9309995_G->A 12 9309995 9309995 G A snp 77.77 0/1 99 7 4 3 0.43 intronic rs12822596 PZP AU NM_002864 exon9 c.8384+44G>A 0.190895 0.0655 0.245118 0.2713 0.0716 Uncertain 12_9310008_T->C 12 9310008 9310008 T C snp 93.28 1/1 9 3 0 3 1.0 intronic rs10842982 PZP AU NM_002864 exon9 c.8384+57T>C 0.999002 1 Uncertain 12_9310565_C->T 12 9310565 9310565 C T snp 551.77 0/1 99 54 34 20 0.37 intronic rs4882981 PZP AU NM_002864 exon10 c.8870+128C>T 0.655551 0.8899 Uncertain 12_9310576_T->G 12 9310576 9310576 T G snp 1027.77 1/1 75 32 0 32 1.0 intronic rs10771364 PZP AU NM_002864 exon10 c.8870+139T>G 0.796326 0.8442 Uncertain 12_9310959_C->T 12 9310959 9310959 C T snp 649.77 1/1 48 19 0 19 1.0 intronic rs7298673 PZP AU NM_002864 exon11 c.9448-56C>T 0.846845 0.9554 Uncertain 12_9311251_C->G 12 9311251 9311251 C G snp 308.77 0/1 99 24 11 13 0.54 intronic rs7309811 PZP AU NM_002864 exon11 c.9605+79C>G 0.191094 0.0655 Uncertain 12_9311265_A->C 12 9311265 9311265 A C snp 540.77 1/1 42 19 0 19 1.0 intronic rs3741850 PZP AU NM_002864 exon11 c.9605+93A>C 0.85004 0.9554 Uncertain 12_9311281_C->T 12 9311281 9311281 C T snp 191.77 0/1 99 17 9 8 0.47 intronic rs7309821 PZP AU NM_002864 exon11 c.9605+109C>T 0.191094 0.0655 Uncertain 12_9313518_T->A 12 9313518 9313518 T A snp 1039.77 1/1 78 30 0 30 1.0 intronic rs7972015 PZP AU NM_002864 exon14 c.12061-110T>A 0.846845 0.9554 Uncertain 12_9315209_A->G 12 9315209 9315209 A G snp 5923.77 1/1 99 223 0 223 1.0 exonic rs10771381 PZP AU synonymous SNV NM_002864 exon22 c.T2772C p.S924S 0.40655 0.4226 0.428110 0.4120 0.4119 Uncertain 12_9316773_T->C 12 9316773 9316773 T C snp 3862.77 1/1 99 143 2 141 0.99 exonic rs3213831 PZP AU nonsynonymous SNV NM_002864 exon20 c.A2570G p.N857S 0.403554 0.4187 0.425650 0.4108 0.4082 0.06 T 0.289 P -0.939 T 0.949 T 0.607 D Pathogenic 12_9316907_C->T 12 9316907 9316907 C T snp 939.77 1/1 69 25 0 25 1.0 intronic rs1863839 PZP AU NM_002864 exon17 c.15288+52C>T 0.427943 0.4100 0.4085 Uncertain 12_9317885_G->A 12 9317885 9317885 G A snp 3374.77 1/1 99 110 0 110 1.0 exonic rs2277412 PZP AU synonymous SNV NM_002864 exon19 c.C2337T p.S779S 0.338259 0.4266 0.3898 0.4063 Uncertain 12_9334728_-->AGTGAGACAAAATGGTCATA 12 9334728 9334728 - AGTGAGACAAAATGGTCATA indel 12215.7 1/1 99 177 0 177 1.0 intronic rs3832849 PZP AU NM_002864 exon23 c.33146+15insAGTGAGACAAAATGGTCATA 0.704872 0.7877 0.702128 0.6940 0.7888 Uncertain 12_9344962_A->G 12 9344962 9344962 A G snp 2223.77 0/1 99 172 80 92 0.53 intronic rs12423745 PZP AU NM_002864 exon24 c.43285+110A>G 0.21246 0.1766 Uncertain 12_9345273_A->G 12 9345273 9345273 A G snp 4589.77 1/1 99 161 0 161 1.0 exonic rs10771407 PZP AU synonymous SNV NM_002864 exon12 c.T1317C p.G439G 0.874401 0.9762 0.852453 0.9103 0.9754 Uncertain 12_9345408_A->G 12 9345408 9345408 A G snp 702.77 0/1 99 50 24 26 0.52 intronic rs2075395 PZP AU NM_002864 exon25 c.43768+73A>G 0.573482 0.5585 Uncertain 12_9349370_-->T 12 9349370 9349370 - T indel 445.73 0/1 99 54 18 36 0.67 intronic rs11049396 PZP AU NM_002864 exon28 c.47714+89insT 0.554912 0.5496 Uncertain 12_9349404_C->T 12 9349404 9349404 C T snp 426.77 0/1 99 27 13 14 0.52 intronic rs74849269 PZP AU NM_002864 exon28 c.47714+123C>T 0.0415335 0.0605 Uncertain 12_9352908_C->A 12 9352908 9352908 C A snp 1547.77 1/1 99 49 0 49 1.0 intronic rs6487668 PZP AU NM_002864 exon30 c.51392-51C>A 0.792133 0.8998 0.767406 Uncertain 12_9353828_A->T 12 9353828 9353828 A T snp 451.77 0/1 99 32 16 16 0.5 intronic rs3759275 PZP AU NM_002864 exon32 c.52355-94A>T 0.348243 0.4405 Uncertain 12_9353875_T->C 12 9353875 9353875 T C snp 372.77 0/1 99 35 18 17 0.49 intronic rs3759274 PZP AU NM_002864 exon32 c.52355-47T>C 0.348243 0.4405 0.339668 0.3525 0.4359 Uncertain 12_9446913_C->T 12 9446913 9446913 C T snp 466.77 0/1 99 38 19 19 0.5 ncRNA_intronic rs61916248 LOC642846 AU Uncertain 12_9446932_G->C 12 9446932 9446932 G C snp 571.77 0/1 99 50 26 24 0.48 ncRNA_intronic rs61916249 LOC642846 AU 0.439497 0.3532 Uncertain 12_9446977_G->C 12 9446977 9446977 G C snp 1950.77 1/1 99 76 0 76 1.0 ncRNA_intronic rs3874129 LOC642846 AU 0.687899 0.621 Uncertain 12_9447484_C->T 12 9447484 9447484 C T snp 57.77 0/1 86 65 53 12 0.18 ncRNA_exonic rs2429883 LOC642846 AU 0.1099 0.1693 Uncertain 12_9447492_T->C 12 9447492 9447492 T C snp 442.77 0/1 99 62 39 23 0.37 ncRNA_exonic rs2536755 LOC642846 AU 0.3548 0.2817 Uncertain 12_9450357_A->G 12 9450357 9450357 A G snp 379.77 1/1 30 16 0 16 1.0 ncRNA_intronic rs2429886 LOC642846 AU 0.6994 0.4465 Uncertain 12_9450594_C->T 12 9450594 9450594 C T snp 342.03 0/1 12 16 2 14 0.88 ncRNA_intronic rs61916255 LOC642846 AU Uncertain 12_9450603_T->C 12 9450603 9450603 T C snp 349.28 0/1 9 14 1 13 0.93 ncRNA_intronic rs12315999 LOC642846 AU Uncertain 12_9451296_G->- 12 9451296 9451296 G - indel 595.73 0/1 99 57 36 21 0.37 ncRNA_intronic rs778581045 LOC642846 AU 0.0754792 0.0208 Uncertain 12_9451370_T->C 12 9451370 9451370 T C snp 974.77 0/1 99 250 155 95 0.38 ncRNA_splicing rs200995345 LOC642846 AU 0.4103 0.3145 Uncertain 12_9451397_G->A 12 9451397 9451397 G A snp 722.77 0/1 99 250 157 93 0.37 ncRNA_exonic rs74390404 LOC642846 AU 0.4638 0.3956 Uncertain 12_9451473_G->A 12 9451473 9451473 G A snp 815.77 0/1 99 195 73 122 0.63 ncRNA_intronic rs61916259 LOC642846 AU 0.2847 0.1743 Uncertain 12_9451541_C->A 12 9451541 9451541 C A snp 140.77 0/1 99 69 39 30 0.43 ncRNA_intronic rs61917360 LOC642846 AU 0.1637 0.0864 Uncertain 12_9452062_A->C 12 9452062 9452062 A C snp 304.78 1/1 24 17 0 17 1.0 ncRNA_exonic rs75887043 LOC642846 AU 0.76278 0.624 0.7910 0.4097 Uncertain 12_9452110_G->A 12 9452110 9452110 G A snp 184.28 0/1 9 15 4 11 0.73 ncRNA_intronic rs79328008 LOC642846 AU 0.3229 0.3539 Uncertain 12_9453726_G->A 12 9453726 9453726 G A snp 517.77 0/1 99 52 21 31 0.6 ncRNA_exonic rs61917369 LOC642846 AU 0.265974 0.4266 Uncertain 12_9453743_C->A 12 9453743 9453743 C A snp 1337.77 ./1 99 75 0 75 1.0 ncRNA_exonic rs28415351 LOC642846 AU 0.284145 0.4325 Uncertain 12_9453743_C->G 12 9453743 9453743 C G snp 1337.77 ./1 99 75 0 75 1.0 ncRNA_exonic rs28415351 LOC642846 AU 0.554113 0.246 Uncertain 12_9453855_C->- 12 9453855 9453855 C - indel 944.73 0/1 99 106 73 33 0.31 ncRNA_intronic rs370590832 LOC642846 AU 0.262979 0.1488 Uncertain 12_9453864_A->G 12 9453864 9453864 A G snp 1074.77 0/1 99 114 45 69 0.61 ncRNA_intronic rs61917370 LOC642846 AU 0.528754 0.2907 Uncertain 12_9453916_C->T 12 9453916 9453916 C T snp 174.77 0/1 99 56 40 16 0.29 ncRNA_intronic LOC642846 AU Uncertain 12_9455171_A->G 12 9455171 9455171 A G snp 291.77 0/1 99 20 6 14 0.7 ncRNA_intronic rs28501195 LOC642846 AU 0.395767 0.2183 Uncertain 12_9455342_A->G 12 9455342 9455342 A G snp 744.77 0/1 99 92 56 36 0.39 ncRNA_intronic rs61917373 LOC642846 AU 0.289337 0.4315 Uncertain 12_9455428_A->G 12 9455428 9455428 A G snp 681.77 1/1 51 23 0 23 1.0 ncRNA_intronic rs11050141 LOC642846 AU Uncertain 12_9456640_C->A 12 9456640 9456640 C A snp 531.77 1/1 42 38 18 20 0.53 ncRNA_intronic rs201046098 LOC642846 AU 0.316494 0.4345 Uncertain 12_9456729_T->C 12 9456729 9456729 T C snp 3072.77 1/1 99 180 36 144 0.8 ncRNA_intronic rs11050148 LOC642846 AU 0.835463 0.6796 Uncertain 12_9456838_G->A 12 9456838 9456838 G A snp 4013.77 1/1 99 146 0 146 1.0 ncRNA_intronic rs10843357 LOC642846 AU 0.80012 0.6319 Uncertain 12_9458412_G->C 12 9458412 9458412 G C snp 480.77 0/1 99 50 11 39 0.78 ncRNA_intronic rs10743653 LOC642846 AU Uncertain 12_9458891_A->G 12 9458891 9458891 A G snp 791.77 0/1 99 172 117 55 0.32 ncRNA_exonic rs2911828 LOC642846 AU Uncertain 12_9459648_G->A 12 9459648 9459648 G A snp 42.77 0/1 71 33 25 8 0.24 ncRNA_intronic rs368656806 LOC642846 AU Uncertain 12_9459854_G->C 12 9459854 9459854 G C snp 1225.77 0/1 99 149 82 67 0.45 ncRNA_exonic rs9971685 LOC642846 AU 0.486621 0.2649 Uncertain 12_9459898_G->T 12 9459898 9459898 G T snp 732.77 0/1 99 82 46 36 0.44 ncRNA_exonic rs2911825 LOC642846 AU Uncertain 12_9462413_C->T 12 9462413 9462413 C T snp 77.77 0/1 69 5 2 3 0.6 ncRNA_intronic rs7966742 LOC642846 AU Uncertain 12_9462682_A->G 12 9462682 9462682 A G snp 80.77 0/1 99 23 18 5 0.22 ncRNA_intronic rs76145334 LOC642846 AU Uncertain 12_9462683_A->T 12 9462683 9462683 A T snp 71.77 0/1 99 23 18 5 0.22 ncRNA_intronic rs79999791 LOC642846 AU Uncertain 12_9462685_A->T 12 9462685 9462685 A T snp 84.77 0/1 99 22 17 5 0.23 ncRNA_intronic LOC642846 AU Uncertain 12_9462686_C->T 12 9462686 9462686 C T snp 77.77 0/1 99 22 17 5 0.23 ncRNA_intronic LOC642846 AU Uncertain 12_9462709_A->G 12 9462709 9462709 A G snp 638.77 1/1 48 19 0 19 1.0 ncRNA_intronic rs2889720 LOC642846 AU 0.826478 0.6627 Uncertain 12_9462754_G->A 12 9462754 9462754 G A snp 102.77 0/1 99 9 5 4 0.44 ncRNA_intronic rs2377757 LOC642846 AU 0.345847 0.4107 Uncertain 12_9462785_C->G 12 9462785 9462785 C G snp 400.77 0/1 99 21 9 12 0.57 ncRNA_intronic rs12580730 LOC642846 AU 0.307907 0.3948 Uncertain 12_9463010_C->G 12 9463010 9463010 C G snp 4945.77 1/1 99 178 0 178 1.0 ncRNA_exonic rs4883234 LOC642846 AU 0.989018 1 Uncertain 12_9463077_A->C 12 9463077 9463077 A C snp 995.77 0/1 99 73 36 37 0.51 ncRNA_intronic rs10771513 LOC642846 AU 0.674521 0.4048 Uncertain 12_9463105_A->G 12 9463105 9463105 A G snp 517.77 0/1 99 39 21 18 0.46 ncRNA_intronic rs11050177 LOC642846 AU 0.623602 0.5496 Uncertain 12_9463774_G->T 12 9463774 9463774 G T snp 534.77 0/1 99 55 29 26 0.47 ncRNA_exonic rs55809356 LOC642846 AU 0.261581 0.3938 Uncertain 12_9463806_T->C 12 9463806 9463806 T C snp 916.77 1/1 66 37 0 37 1.0 ncRNA_exonic rs10771515 LOC642846 AU Uncertain 12_9464060_G->C 12 9464060 9464060 G C snp 40.77 0/1 69 19 15 4 0.21 ncRNA_intronic rs12822747 LOC642846 AU Uncertain 12_9464109_A->G 12 9464109 9464109 A G snp 754.77 0/1 99 85 54 31 0.36 ncRNA_intronic rs12824979 LOC642846 AU Uncertain 12_9464126_A->G 12 9464126 9464126 A G snp 332.77 0/1 99 129 107 22 0.17 ncRNA_intronic rs201695391 LOC642846 AU Uncertain 12_9464133_C->G 12 9464133 9464133 C G snp 1107.77 0/1 99 144 96 48 0.33 ncRNA_intronic rs10843383 LOC642846 AU Uncertain 12_9464178_G->A 12 9464178 9464178 G A snp 658.77 0/1 99 250 199 51 0.2 ncRNA_intronic rs112191067 LOC642846 AU Uncertain 12_9464219_G->C 12 9464219 9464219 G C snp 529.77 0/1 99 250 202 48 0.19 ncRNA_intronic LOC642846 AU Uncertain 12_9464222_C->T 12 9464222 9464222 C T snp 644.77 0/1 99 250 208 42 0.17 ncRNA_intronic LOC642846 AU Uncertain 12_9464241_C->A 12 9464241 9464241 C A snp 1568.77 0/1 99 250 172 78 0.31 ncRNA_intronic rs61917427 LOC642846 AU Uncertain 12_9464748_G->A 12 9464748 9464748 G A snp 486.77 0/1 99 30 12 18 0.6 ncRNA_intronic rs10771516 LOC642846 AU Uncertain 12_9464828_C->T 12 9464828 9464828 C T snp 1052.77 0/1 99 87 39 48 0.55 ncRNA_intronic rs12581470 LOC642846 AU 0.345647 0.3998 Uncertain 12_9465094_C->G 12 9465094 9465094 C G snp 92.28 1/1 9 3 0 3 1.0 ncRNA_intronic rs11519350 LOC642846 AU Uncertain 12_9465465_A->G 12 9465465 9465465 A G snp 1487.77 0/1 99 137 73 64 0.47 ncRNA_intronic rs11050199 LOC642846 AU Uncertain 12_9465495_-->T 12 9465495 9465495 - T indel 1912.73 0/1 99 137 70 67 0.49 ncRNA_intronic rs147788242 LOC642846 AU 0.329872 0.2123 Uncertain 12_9465660_A->C 12 9465660 9465660 A C snp 486.77 0/1 99 55 30 25 0.45 ncRNA_intronic rs200338757 LOC642846 AU Uncertain 12_9549635_G->- 12 9549635 9549635 G - indel 204.73 0/1 99 17 9 8 0.47 ncRNA_exonic rs11308534 LOC101930452 AU 0.48103 0.6111 Uncertain 12_9554954_G->C 12 9554954 9554954 G C snp 247.77 0/1 99 42 29 13 0.31 intergenic rs11490335 LOC101930452 AU Uncertain 12_9555110_A->G 12 9555110 9555110 A G snp 1250.77 0/1 99 181 67 114 0.63 intergenic rs12821647 LOC101930452 AU 0.667732 0.6409 Uncertain 12_9555185_A->G 12 9555185 9555185 A G snp 791.77 0/1 99 96 37 59 0.61 intergenic rs12821819 LOC101930452 AU Uncertain 12_9555201_C->A 12 9555201 9555201 C A snp 56.77 0/1 85 80 58 22 0.28 intergenic rs199717489 LOC101930452 AU Uncertain 12_9570971_G->A 12 9570971 9570971 G A snp 50.74 1/1 6 2 0 2 1.0 ncRNA_exonic rs7487238 DDX12P AU 0.697484 0.6032 Uncertain 12_9571547_C->G 12 9571547 9571547 C G snp 2656.77 1/1 99 115 0 115 1.0 ncRNA_intronic rs61916776 DDX12P AU 0.954073 1 Uncertain 12_9571599_C->A 12 9571599 9571599 C A snp 889.77 0/1 99 94 49 45 0.48 ncRNA_intronic rs73242993 DDX12P AU 0.508387 0.5744 0.5773 0.6173 Uncertain 12_9571670_T->C 12 9571670 9571670 T C snp 918.77 1/1 69 34 0 34 1.0 ncRNA_intronic rs77617533 DDX12P AU 0.9386 0.9939 Uncertain 12_9572244_A->G 12 9572244 9572244 A G snp 1036.77 1/1 75 32 0 32 1.0 ncRNA_intronic rs7305608 DDX12P AU 0.954473 1 Uncertain 12_9572785_G->A 12 9572785 9572785 G A snp 995.77 0/1 99 87 41 46 0.53 ncRNA_exonic rs144852601 DDX12P AU 0.014976 0.0704 Uncertain 12_9572788_C->G 12 9572788 9572788 C G snp 944.77 0/1 99 83 43 40 0.48 ncRNA_exonic rs767587252 DDX12P AU 0.000599042 0.003 Uncertain 12_9572788_-->GCACCTGGAT 12 9572788 9572788 - GCACCTGGAT indel 6642.73 1/1 99 76 0 76 1.0 ncRNA_exonic rs11283012 DDX12P AU 0.875998 0.9772 0.871881 ID=COSM1477018;OCCURENCE=3(breast) Uncertain 12_9572819_C->T 12 9572819 9572819 C T snp 345.77 0/1 99 37 24 13 0.35 ncRNA_exonic rs10843740 DDX12P AU Uncertain 12_9572944_G->A 12 9572944 9572944 G A snp 166.9 1/1 15 7 0 7 1.0 ncRNA_intronic rs7955974 DDX12P AU Uncertain 12_9573130_C->T 12 9573130 9573130 C T snp 105.77 0/1 99 12 7 5 0.42 ncRNA_exonic rs7358608 DDX12P AU Uncertain 12_9573223_C->A 12 9573223 9573223 C A snp 241.77 0/1 99 35 23 12 0.34 ncRNA_exonic rs4763936 DDX12P AU Uncertain 12_9573224_C->T 12 9573224 9573224 C T snp 421.77 0/1 99 35 15 20 0.57 ncRNA_exonic rs7358609 DDX12P AU Uncertain 12_9573307_G->C 12 9573307 9573307 G C snp 156.77 0/1 99 19 10 9 0.47 ncRNA_intronic DDX12P AU Uncertain 12_9573308_A->C 12 9573308 9573308 A C snp 161.77 0/1 99 19 10 9 0.47 ncRNA_intronic DDX12P AU Uncertain 12_9573309_G->C 12 9573309 9573309 G C snp 155.77 0/1 99 19 10 9 0.47 ncRNA_intronic DDX12P AU Uncertain 12_9573338_G->A 12 9573338 9573338 G A snp 403.77 1/1 30 15 0 15 1.0 ncRNA_intronic rs4763950 DDX12P AU 0.954473 1 Uncertain 12_9574002_C->T 12 9574002 9574002 C T snp 4198.77 1/1 99 159 0 159 1.0 ncRNA_exonic rs10771709 DDX12P AU 0.954073 1 0.956855 Uncertain 12_9574042_C->A 12 9574042 9574042 C A snp 2295.77 0/1 99 213 114 99 0.46 ncRNA_exonic rs7298124 DDX12P AU 0.473642 0.5655 0.466272 Uncertain 12_9574119_A->G 12 9574119 9574119 A G snp 4651.77 1/1 99 163 0 163 1.0 ncRNA_intronic rs4764050 DDX12P AU 0.954473 1 Uncertain 12_9574344_T->G 12 9574344 9574344 T G snp 357.77 1/1 33 14 0 14 1.0 ncRNA_intronic rs4237949 DDX12P AU 0.952875 1 Uncertain 12_9574480_T->C 12 9574480 9574480 T C snp 1448.77 1/1 99 65 0 65 1.0 ncRNA_exonic rs7132464 DDX12P AU Uncertain 12_9577027_C->G 12 9577027 9577027 C G snp 227.77 0/1 99 20 10 10 0.5 ncRNA_intronic rs3825308 DDX12P AU 0.49381 0.5675 Uncertain 12_9577310_A->C 12 9577310 9577310 A C snp 2722.77 1/1 99 98 0 98 1.0 ncRNA_intronic rs7296629 DDX12P AU 0.954473 1 Uncertain 12_9577992_C->T 12 9577992 9577992 C T snp 189.77 0/1 99 25 17 8 0.32 ncRNA_intronic rs201150453 DDX12P AU Uncertain 12_9578197_A->T 12 9578197 9578197 A T snp 6196.77 0/1 68 250 28 222 0.89 ncRNA_exonic rs11534759 DDX12P AU Uncertain 12_9580071_A->T 12 9580071 9580071 A T snp 201.84 1/1 18 6 0 6 1.0 ncRNA_intronic rs58482729 DDX12P AU 0.867812 0.9762 Uncertain 12_9580122_A->G 12 9580122 9580122 A G snp 655.77 0/1 99 77 48 29 0.38 ncRNA_intronic rs61914680 DDX12P AU Uncertain 12_9580203_G->C 12 9580203 9580203 G C snp 4928.77 0/1 99 250 54 196 0.78 ncRNA_intronic rs58705479 DDX12P AU Uncertain 12_9580280_A->G 12 9580280 9580280 A G snp 30.77 0/1 59 236 210 26 0.11 ncRNA_exonic rs201256560 DDX12P AU Uncertain 12_9580395_C->G 12 9580395 9580395 C G snp 1139.77 1/1 49 33 1 32 0.97 ncRNA_intronic rs57349890 DDX12P AU Uncertain 12_9580403_G->A 12 9580403 9580403 G A snp 850.77 1/1 29 24 1 23 0.96 ncRNA_intronic rs61128631 DDX12P AU 0.333466 0.3819 Uncertain 12_9581584_C->G 12 9581584 9581584 C G snp 383.77 0/1 99 21 7 14 0.67 ncRNA_intronic rs4763564 DDX12P AU 0.218251 0.373 Uncertain 12_9581791_T->C 12 9581791 9581791 T C snp 910.77 0/1 99 77 36 41 0.53 ncRNA_exonic rs4763566 DDX12P AU 0.298323 0.3958 Uncertain 12_9581856_C->T 12 9581856 9581856 C T snp 95.77 0/1 99 20 14 6 0.3 ncRNA_intronic rs200761361 DDX12P AU 0.285743 0.3978 Uncertain 12_9581948_C->T 12 9581948 9581948 C T snp 143.77 0/1 99 12 7 5 0.42 ncRNA_intronic rs11050929 DDX12P AU Uncertain 12_9582244_G->A 12 9582244 9582244 G A snp 62.77 0/1 91 60 45 15 0.25 ncRNA_intronic rs201653123 DDX12P AU Uncertain 12_9583216_T->C 12 9583216 9583216 T C snp 1561.77 1/1 99 73 0 73 1.0 ncRNA_exonic rs3864916 DDX12P AU Uncertain 12_9583221_G->A 12 9583221 9583221 G A snp 1466.77 1/1 99 71 0 71 1.0 ncRNA_exonic rs3864915 DDX12P AU Uncertain 12_9583324_G->A 12 9583324 9583324 G A snp 141.77 0/1 99 40 24 16 0.4 ncRNA_exonic rs4012577 DDX12P AU Uncertain 12_9585598_T->C 12 9585598 9585598 T C snp 419.77 1/1 36 73 0 73 1.0 ncRNA_exonic rs200479049 DDX12P AU 0.958067 0.999 0.9218 0.9908 Uncertain 12_9586494_A->G 12 9586494 9586494 A G snp 340.78 1/1 27 13 0 13 1.0 ncRNA_intronic rs28709702 DDX12P AU 0.95627 1 Uncertain 12_9586636_G->A 12 9586636 9586636 G A snp 796.77 0/1 99 173 114 59 0.34 ncRNA_intronic rs2429887 DDX12P AU Uncertain 12_9590052_G->A 12 9590052 9590052 G A snp 845.77 0/1 99 88 47 41 0.47 ncRNA_exonic rs149680272 DDX12P AU 0.301518 0.4028 Uncertain 12_9590197_T->C 12 9590197 9590197 T C snp 1942.77 1/1 99 76 0 76 1.0 ncRNA_intronic rs61914700 DDX12P AU 0.947883 1 Uncertain 12_9590286_A->G 12 9590286 9590286 A G snp 96.28 1/1 9 3 0 3 1.0 ncRNA_intronic rs2908217 DDX12P AU Uncertain 12_9590505_G->A 12 9590505 9590505 G A snp 1179.77 0/1 99 78 29 49 0.63 ncRNA_intronic rs201948852 DDX12P AU Uncertain 12_9590651_-->CTGAGTAAC 12 9590651 9590651 - CTGAGTAAC indel 6315.73 0/1 99 233 145 88 0.38 ncRNA_exonic rs376958229 DDX12P AU 0.250799 0.2847 ID=COSM69216;OCCURENCE=1(ovary) Uncertain 12_9633258_A->G 12 9633258 9633258 A G snp 1481.77 1/1 99 68 3 65 0.96 intergenic rs4015230 DDX12P AU 0.915935 0.998 Uncertain 12_9633375_A->G 12 9633375 9633375 A G snp 655.77 1/1 48 20 0 20 1.0 intergenic rs4015231 DDX12P AU 0.915935 0.998 Uncertain 12_9664292_G->A 12 9664292 9664292 G A snp 889.77 1/1 69 43 0 43 1.0 intergenic rs10843926 DDX12P AU Uncertain 12_9688883_A->C 12 9688883 9688883 A C snp 1314.77 1/1 93 50 0 50 1.0 intergenic rs2536903 DDX12P AU 0.830871 0.998 Uncertain 12_9692918_G->T 12 9692918 9692918 G T snp 139.9 1/1 15 6 0 6 1.0 intergenic rs199651672 DDX12P AU Uncertain 12_9693196_G->A 12 9693196 9693196 G A snp 173.9 1/1 15 6 0 6 1.0 intergenic rs138943288 DDX12P AU 0.802516 0.9901 Uncertain 12_9697765_T->C 12 9697765 9697765 T C snp 322.77 1/1 33 34 0 34 1.0 intergenic rs145716121 DDX12P AU Uncertain 12_9706809_T->C 12 9706809 9706809 T C snp 56.74 1/1 6 2 0 2 1.0 intergenic rs7294735 DDX12P AU 0.809505 0.996 Uncertain 12_9706810_C->A 12 9706810 9706810 C A snp 56.74 1/1 6 2 0 2 1.0 intergenic rs7306327 DDX12P AU 0.809704 0.996 Uncertain 12_9707098_C->T 12 9707098 9707098 C T snp 1344.77 1/1 96 48 0 48 1.0 intergenic rs7309655 DDX12P AU 0.578874 0.8353 Uncertain 12_9711954_A->T 12 9711954 9711954 A T snp 466.77 1/1 36 24 0 24 1.0 intergenic rs2536846 DDX12P AU 0.890974 1 Uncertain 12_9725847_T->G 12 9725847 9725847 T G snp 270.8 1/1 21 11 0 11 1.0 intergenic rs4763595 DDX12P AU 0.884784 1 Uncertain 12_9747676_G->A 12 9747676 9747676 G A snp 80.77 0/1 69 5 2 3 0.6 downstream rs2058426 KLRB1 AU 0.436502 0.4573 Uncertain 12_9747744_-->A 12 9747744 9747744 - A indel 214.73 0/1 99 22 15 7 0.32 downstream rs3214342 KLRB1 AU 0.405152 0.5337 Uncertain 12_9750669_A->G 12 9750669 9750669 A G snp 435.77 0/1 99 47 26 21 0.45 exonic rs1135816 KLRB1 AU nonsynonymous SNV NM_002258 exon5 c.T503C p.I168T 0.403954 0.5317 0.340647 0.4460 0.5479 0.03 T 0.052 P -0.921 T 0.953 T 0.802 D ID=CM158675;DIS=Reduced ligand binding;TAG=FP;PUB=26309225 FP Pathogenic 12_9750965_T->C 12 9750965 9750965 T C snp 316.78 1/1 27 9 0 9 1.0 intronic rs10734802 KLRB1 AU NM_002258 exon3 c.3225-129T>C 0.896166 0.9911 Uncertain 12_9751035_-->AT 12 9751035 9751035 - AT indel 2395.73 1/1 99 48 0 48 1.0 intronic rs3072716 KLRB1 AU NM_002258 exon3 c.3225-59insAT 0.872604 0.9921 Uncertain 12_9754221_-->AAAC 12 9754221 9754221 - AAAC indel 3341.73 1/1 99 86 2 84 0.98 intronic rs3072720 KLRB1 AU NM_002258 exon5 c.6326+26insAAAC 0.739217 0.9871 0.8373 0.9867 Uncertain 12_9832687_T->C 12 9832687 9832687 T C snp 190.9 1/1 15 8 0 8 1.0 intronic rs781594630 CLEC2D AU NM_001197318 exon2 c.11188-831T>C 0.000199681 0.001 Uncertain 12_9832822_C->T 12 9832822 9832822 C T snp 369.78 1/1 27 16 0 16 1.0 intronic rs2114872 CLEC2D AU NM_001197318 exon2 c.11188-696C>T 0.898163 0.9712 0.9131 0.9846 Uncertain 12_9832882_T->C 12 9832882 9832882 T C snp 272.8 1/1 21 10 0 10 1.0 intronic rs2114873 CLEC2D AU NM_001197318 exon2 c.11188-636T>C 0.895966 0.9712 0.8459 0.9828 Uncertain 12_9840773_T->A 12 9840773 9840773 T A snp 1104.77 1/1 84 31 0 31 1.0 intronic rs7310460 CLEC2D AU NM_001197317 exon2 c.18352+91T>A 0.390775 0.5992 Uncertain 12_9906067_T->C 12 9906067 9906067 T C snp 399.77 1/1 30 13 0 13 1.0 UTR3 rs1051065 CD69 AU 0.69369 0.9643 0.616503 0.7468 0.9557 Uncertain 12_9980243_A->G 12 9980243 9980243 A G snp 2798.77 1/1 99 106 0 106 1.0 intronic rs2232543 KLRF1 AU NM_016523 exon1 c.85+18A>G 0.933906 0.9067 0.948423 0.9770 0.9263 Uncertain 12_9994446_TGT->- 12 9994446 9994448 TGT - indel 3061.73 1/1 99 55 0 55 1.0 exonic rs33911869 KLRF1 AU nonframeshift deletion NM_001291822 exon3 c.223_225del p.75_75del 0.994209 1 0.993766 0.9973 1 Uncertain 12_10005778_A->G 12 10005778 10005778 A G snp 83.77 0/1 69 5 2 3 0.6 UTR3 rs2594072 CLEC2B AU 0.55012 0.4861 Uncertain 12_10005780_G->A 12 10005780 10005780 G A snp 113.77 0/1 89 7 3 4 0.57 UTR3 rs2539933 CLEC2B AU 0.614018 0.4841 Uncertain 12_10015082_G->A 12 10015082 10015082 G A snp 264.77 0/1 99 33 19 14 0.42 intronic rs253147 CLEC2B AU NM_005127 exon4 c.9199-15G>A 0.614018 0.4871 0.649164 0.5949 0.4939 Uncertain 12_10015177_A->G 12 10015177 10015177 A G snp 563.77 0/1 99 49 23 26 0.53 splicing rs253146 CLEC2B AU NM_005127 exon4 c.9274+5A>G 0.570288 0.4871 0.601483 0.5860 0.5043 Pathogenic 12_10041364_G->A 12 10041364 10041364 G A snp 1940.77 0/1 99 138 55 83 0.6 exonic rs1797517 KLRF2 AU nonsynonymous SNV NM_001190765 exon3 c.G202A p.V68I 0.728634 0.7302 0.7802 0.7424 0.21 T 0.0 P -1.071 T Pathogenic 12_10045919_G->A 12 10045919 10045919 G A snp 154.77 0/1 99 21 15 6 0.29 intronic rs577575 KLRF2 AU NM_001190765 exon5 c.11833-108G>A 0.202476 0.2956 Uncertain 12_10046052_C->A 12 10046052 10046052 C A snp 1363.77 0/1 99 141 72 69 0.49 exonic rs576601 KLRF2 AU nonsynonymous SNV NM_001190765 exon5 c.C391A p.P131T 0.541733 0.4544 0.6663 0.4235 0.54 T 0.0 P -0.992 T Pathogenic 12_10051433_A->T 12 10051433 10051433 A T snp 248.77 0/1 99 28 17 11 0.39 UTR3 rs1407899 CLEC2A AU 0.601238 0.5238 Uncertain 12_10123861_G->A 12 10123861 10123861 G A snp 94.28 1/1 9 3 0 3 1.0 intronic rs525013 CLEC12A AU NM_001207010 exon2 c.20230-314G>A 0.607029 0.6429 Uncertain 12_10124336_T->C 12 10124336 10124336 T C snp 384.77 1/1 30 12 0 12 1.0 intronic rs2984956 CLEC12A AU NM_001207010 exon2 c.20341+50T>C 0.607029 0.6429 0.542147 0.5763 0.6465 Uncertain 12_10124373_C->T 12 10124373 10124373 C T snp 54.74 1/1 6 3 0 3 1.0 intronic rs2961542 CLEC12A AU NM_001207010 exon2 c.20341+87C>T 0.607029 0.6429 Uncertain 12_10131684_T->G 12 10131684 10131684 T G snp 3783.77 1/1 99 127 0 127 1.0 intronic rs607567 CLEC12A AU NM_001207010 exon3 c.27718+21T>G 0.756989 0.9157 0.648393 0.6860 0.9014 Uncertain 12_10131939_C->T 12 10131939 10131939 C T snp 827.77 0/1 99 67 37 30 0.45 exonic rs536947 CLEC12A AU synonymous SNV NM_201623 exon2 c.C96T p.H32H 0.193291 0.2222 0.139462 0.2698 0.3047 Uncertain 12_10133478_T->C 12 10133478 10133478 T C snp 764.77 0/1 99 69 36 33 0.48 intronic rs117182256 CLEC12A AU NM_001207010 exon5 c.29387+146T>C 0.0161741 0.0198 Uncertain 12_10136672_G->A 12 10136672 10136672 G A snp 459.77 1/1 36 13 0 13 1.0 UTR3 rs2961544 CLEC12A AU 0.73123 0.8978 0.6889 0.9277 0.97 T 0.0 P -0.966 T Uncertain 12_10137296_T->C 12 10137296 10137296 T C snp 54.74 1/1 6 2 0 2 1.0 intronic rs476844 CLEC12A AU NM_001207010 exon7 c.33523-172T>C 0.732428 0.8998 Uncertain 12_10137557_A->C 12 10137557 10137557 A C snp 1711.77 1/1 99 65 0 65 1.0 exonic rs479499 CLEC12A AU nonsynonymous SNV NM_201623 exon5 c.A631C p.K211Q 0.73742 0.8998 0.638064 0.7233 0.9031 0.29 T 0.0 P -1.072 T 0.112 T 0.032 T Pathogenic 12_10137645_T->G 12 10137645 10137645 T G snp 264.8 1/1 21 7 0 7 1.0 UTR3 rs588272 CLEC12A AU 0.753794 0.8988 0.677052 0.7030 0.8942 Uncertain 12_10138830_C->T 12 10138830 10138830 C T snp 146.03 1/1 12 6 0 6 1.0 downstream rs576031 CLEC12A AU 0.691494 0.8988 Uncertain 12_10146005_-->A 12 10146005 10146005 - A indel 247.73 1/1 32 33 0 33 1.0 intronic rs11412323 CLEC1B AU NM_016509 exon1 c.145+119insA 0.365016 0.2738 Uncertain 12_10146014_-->C 12 10146014 10146014 - C indel 815.73 0/1 99 38 16 22 0.58 intronic rs11447004 CLEC1B AU NM_016509 exon1 c.145+128insC 0.58726 0.7123 Uncertain 12_10146236_C->T 12 10146236 10146236 C T snp 2634.77 0/1 99 218 109 109 0.5 intronic rs617956 CLEC1B AU NM_016509 exon1 c.145+350C>T 0.552716 0.7153 Uncertain 12_10146470_G->A 12 10146470 10146470 G A snp 872.77 0/1 99 51 20 31 0.61 intronic rs542700 CLEC1B AU NM_016509 exon1 c.145+584G>A 0.597644 0.7153 Uncertain 12_10147850_T->C 12 10147850 10147850 T C snp 1796.77 0/1 99 175 95 80 0.46 splicing rs521040 CLEC1B AU NM_016509 exon2 c.2104+5T>C 0.319688 0.2411 0.298316 0.2859 0.2375 Pathogenic 12_10148031_T->A 12 10148031 10148031 T A snp 76.77 0/1 99 12 7 5 0.42 intronic rs522837 CLEC1B AU NM_016509 exon2 c.2104+186T>A 0.161741 0.2183 Uncertain 12_10149406_T->C 12 10149406 10149406 T C snp 1549.77 0/1 99 119 56 63 0.53 intronic rs581949 CLEC1B AU NM_016509 exon3 c.3703-38T>C 0.617612 0.7292 0.552676 0.5850 0.7271 0.01 T 0.0 P -0.987 T Uncertain 12_10149657_T->C 12 10149657 10149657 T C snp 1966.77 0/1 99 144 67 77 0.53 intronic rs582968 CLEC1B AU NM_016509 exon3 c.3858+58T>C 0.596046 0.7133 Uncertain 12_10149851_C->T 12 10149851 10149851 C T snp 2431.77 1/1 99 93 0 93 1.0 exonic rs583903 CLEC1B AU nonsynonymous SNV NM_001099431 exon2 c.G92A p.G31D 0.984824 1 0.985391 0.9959 1 0.0 P -1.064 T 0.0 T 0.001 T Pathogenic 12_10150974_A->G 12 10150974 10150974 A G snp 767.77 0/1 99 77 44 33 0.43 exonic rs2273986 CLEC1B AU nonsynonymous SNV NM_016509 exon2 c.T70C p.S24P 0.402157 0.3363 0.434146 0.4171 0.2837 1 T 0.000 P -1.014 T 0.0 T 0.0 T Pathogenic 12_10151642_T->C 12 10151642 10151642 T C snp 4962.77 1/1 99 185 1 184 0.99 exonic rs612593 CLEC1B AU nonsynonymous SNV NM_001099431 exon1 c.A58G p.I20V 0.98742 1 0.987153 0.9964 1 0.41 T 0.0 P -1.038 T 0.0 T 0.002 T Pathogenic 12_10151747_A->G 12 10151747 10151747 A G snp 2511.77 0/1 99 242 132 110 0.45 UTR5 rs118077922 CLEC1B AU 0.0139776 0.0169 0.004387 0.0133 0.0164 Uncertain 12_10151762_-->C 12 10151762 10151762 - C indel 4062.73 0/1 99 239 132 107 0.45 UTR5 rs11379994 CLEC1B AU 0.65595 0.751 0.677256 Uncertain 12_10163375_C->A 12 10163375 10163375 C A snp 2153.77 1/1 99 73 0 73 1.0 exonic rs1359082 CLEC12B AU nonsynonymous SNV NM_001129998 exon1 c.C17A p.T6N 0.3125 0.1538 0.380824 0.3527 0.1680 0.02 T 0.989 P -0.857 T 1.0 D 0.998 D Pathogenic 12_10163379_C->T 12 10163379 10163379 C T snp 2164.77 1/1 99 76 0 76 1.0 exonic rs1359083 CLEC12B AU synonymous SNV NM_001129998 exon1 c.C21T p.Y7Y 0.265974 0.1468 0.329848 0.3216 0.1639 Uncertain 12_10165469_A->G 12 10165469 10165469 A G snp 2199.77 1/1 99 84 0 84 1.0 exonic rs476474 CLEC12B AU synonymous SNV NM_001129998 exon2 c.A177G p.T59T 0.939497 0.9792 0.908273 0.9208 0.9730 Uncertain 12_10167040_A->C 12 10167040 10167040 A C snp 180.77 0/1 99 10 4 6 0.6 intronic rs74655512 CLEC12B AU NM_001129998 exon3 c.3763-81A>C 0.0465256 0.0347 Uncertain 12_10167277_G->C 12 10167277 10167277 G C snp 3944.77 1/1 99 141 0 141 1.0 exonic rs637790 CLEC12B AU nonsynonymous SNV NM_001129998 exon3 c.G346C p.V116L 0.939097 0.9782 0.907889 0.9205 0.9728 1 T 0.0 P -0.973 T 0.0 T 0.0 T Pathogenic 12_10217326_-->TT 12 10217326 10217326 - TT indel 5280.73 1/1 99 97 0 97 1.0 splicing rs10622534 CLEC9A AU NM_207345 exon8 c.12044-4insTT 0.952875 1 0.956070 0.9877 1 Pathogenic 12_10282736_T->C 12 10282736 10282736 T C snp 310.77 0/1 99 23 10 13 0.57 UTR5 rs11053623 CLEC7A AR,AU 0.111422 0.3452 Uncertain 12_10312878_C->T 12 10312878 10312878 C T snp 2079.77 1/1 99 73 0 73 1.0 intronic rs2634156 OLR1 AU NM_001172632 exon2 c.331-67C>T 0.997204 1 Uncertain 12_10313448_C->G 12 10313448 10313448 C G snp 1695.77 0/1 99 156 82 74 0.47 exonic rs11053646 OLR1 AU nonsynonymous SNV NM_002543 exon4 c.G501C p.K167N 0.163139 0.1746 0.130709 0.1151 0.1659 0.43 T 1.000 P -0.941 T 0.633 T 0.162 P CLINSIG=other;CLNDBN=Myocardial_infarction;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000007409.1;CLNDSDB=MedGen:SNOMED_CT;CLNDSDBID=C0027051:22298006 ID=CM033655;DIS=Acute myocardial infarction, association with;TAG=DFP;PUB=12646194 DFP Pathogenic 12_10324431_G->T 12 10324431 10324431 G T snp 178.9 1/1 15 5 0 5 1.0 intronic rs35688880 OLR1 AU NM_001172633 exon5 c.11986-169G>T 0.103634 0.1746 Uncertain 12_10342807_C->- 12 10342807 10342807 C - indel 1006.73 0/1 99 38 12 26 0.68 UTR3 rs11307497 TMEM52B AU 0.203674 0.4871 Uncertain 12_10366088_C->T 12 10366088 10366088 C T snp 32.77 0/1 61 10 8 2 0.2 intronic rs11053687 GABARAPL1 AU NM_031412 exon1 c.90+270C>T 0.208666 0.4474 Uncertain 12_10366515_C->A 12 10366515 10366515 C A snp 1964.77 0/1 99 173 80 93 0.54 intronic rs73058083 GABARAPL1 AU NM_031412 exon1 c.90+697C>A 0.0790735 0.1677 0.1007 0.1866 Uncertain 12_10370494_T->- 12 10370494 10370494 T - indel 144.06 0/1 11 7 1 6 0.86 intronic rs144180732 GABARAPL1 AU NM_031412 exon2 c.4933-167delT 0.0898562 0.1657 Uncertain 12_10373324_T->A 12 10373324 10373324 T A snp 1503.77 1/1 99 56 1 55 0.98 intronic rs7301041 GABARAPL1 AU NM_031412 exon3 c.7429+167T>A 0.983626 1 0.9955 1 Uncertain 12_10460442_C->T 12 10460442 10460442 C T snp 46.74 1/1 6 2 0 2 1.0 UTR5 rs3863336 KLRD1 AU 0.935703 1 Uncertain 12_10460543_A->T 12 10460543 10460543 A T snp 525.77 0/1 99 67 42 25 0.37 UTR5 rs2302489 KLRD1 AU 0.532149 0.4474 Uncertain 12_10461883_A->G 12 10461883 10461883 A G snp 2528.77 1/1 99 83 0 83 1.0 intronic rs10734825 KLRD1 AU NM_002262 exon2 c.1310-103A>G 0.983427 1 Uncertain 12_10462052_T->G 12 10462052 10462052 T G snp 3565.77 1/1 99 126 0 126 1.0 exonic rs10772256 KLRD1 AU nonsynonymous SNV NM_002262 exon2 c.T73G p.S25A 0.935503 1 0.921959 0.9789 1 1 T 0.0 P -0.994 T 0.0 T 0.0 T Pathogenic 12_10462431_G->A 12 10462431 10462431 G A snp 284.78 1/1 24 8 0 8 1.0 intronic rs7980604 KLRD1 AU NM_002262 exon3 c.1611+144G>A 0.935304 1 Uncertain 12_10467533_T->A 12 10467533 10467533 T A snp 120.77 0/1 69 7 3 4 0.57 UTR3 rs2537752 KLRD1 AU 0.475639 0.4385 Uncertain 12_10511449_A->G 12 10511449 10511449 A G snp 140.77 0/1 99 10 4 6 0.6 intergenic rs2045883 KLRD1 AU 0.616613 0.8968 Uncertain 12_10511662_C->T 12 10511662 10511662 C T snp 3710.77 1/1 99 141 0 141 1.0 intergenic rs10743886 KLRD1 AU 0.892772 0.9325 0.846867 0.8620 0.9318 Uncertain 12_10525644_A->G 12 10525644 10525644 A G snp 5119.77 1/1 99 185 0 185 1.0 ncRNA_intronic rs1351113 LOC101928100 AU 0.715655 0.87 Uncertain 12_10525740_C->T 12 10525740 10525740 C T snp 6953.77 1/1 99 248 0 248 1.0 exonic rs1049172 KLRC4-KLRK1 AU synonymous SNV NM_007360 exon8 c.G624A p.T208T 0.714457 0.872 0.633631 0.7303 0.8686 Uncertain 12_10532111_T->G 12 10532111 10532111 T G snp 816.77 1/1 60 33 0 33 1.0 ncRNA_intronic rs2255353 LOC101928100 AU 0.76238 0.7857 0.732650 0.8188 0.7789 Uncertain 12_10532326_T->C 12 10532326 10532326 T C snp 1435.77 1/1 99 53 0 53 1.0 exonic rs2255336 KLRC4-KLRK1 AU nonsynonymous SNV NM_007360 exon4 c.A214G p.T72A 0.76238 0.7857 0.724973 0.8036 0.7576 0.53 T 0.0 P -1.097 T 0.003 T 0.003 T ID=CM099345;DIS=Systemic lupus erythematosus, association with;TAG=DP;PUB=19735685 DP Pathogenic 12_10532434_A->G 12 10532434 10532434 A G snp 877.77 1/1 66 29 0 29 1.0 ncRNA_exonic rs2617151 LOC101928100 AU 0.824281 0.7857 0.786319 0.8245 0.7641 Uncertain 12_10560824_T->A 12 10560824 10560824 T A snp 798.77 1/1 60 26 0 26 1.0 intronic rs2617169 KLRC4 AU NM_013431 exon2 c.676-103T>A 0.855631 0.7798 Uncertain 12_10560957_T->C 12 10560957 10560957 T C snp 1683.77 1/1 99 67 0 67 1.0 exonic rs2617170 KLRC4 AU nonsynonymous SNV NM_013431 exon3 c.A311G p.N104S 0.556709 0.5496 0.610512 0.6306 0.5375 0.45 T 0.0 P -1.026 T 0.149 T 0.063 T Pathogenic 12_10562025_C->T 12 10562025 10562025 C T snp 6630.77 1/1 99 242 0 242 1.0 exonic rs1841957 KLRC4 AU synonymous SNV NM_013431 exon1 c.G150A p.S50S 0.49401 0.5605 0.546293 0.6107 0.5462 Uncertain 12_10562089_A->C 12 10562089 10562089 A C snp 6915.77 1/1 99 248 1 247 1.0 exonic rs1841958 KLRC4 AU nonsynonymous SNV NM_013431 exon1 c.T86G p.I29S 0.737021 0.7431 0.672766 0.7188 0.7199 1 T 0.0 P -0.964 T 0.0 T 0.0 T Pathogenic 12_10570965_C->G 12 10570965 10570965 C G snp 5838.77 1/1 99 221 0 221 1.0 exonic rs2682495 KLRC3 AU nonsynonymous SNV NM_002261 exon4 c.G464C p.C155S 0.986821 1 0.985084 0.9956 1 0.46 T 0.0 P -1.013 T 0.0 T 0.002 T Pathogenic 12_10571042_A->G 12 10571042 10571042 A G snp 4600.77 1/1 99 170 0 170 1.0 exonic rs2741882 KLRC3 AU synonymous SNV NM_002261 exon4 c.T387C p.Y129Y 0.986621 1 0.9953 1 Uncertain 12_10571091_T->G 12 10571091 10571091 T G snp 3035.77 1/1 99 100 0 100 1.0 exonic rs2682494 KLRC3 AU nonsynonymous SNV NM_002261 exon4 c.A338C p.H113P 0.986222 1 0.9944 0.9997 0.25 T 0.0 P -0.984 T 0.574 P 0.357 P Pathogenic 12_10571106_G->C 12 10571106 10571106 G C snp 2415.77 1/1 99 75 0 75 1.0 intronic rs2682493 KLRC3 AU NM_007333 exon3 c.2891+9G>C 0.98103 1 0.9937 0.9999 Uncertain 12_10571158_C->T 12 10571158 10571158 C T snp 1798.77 1/1 99 56 0 56 1.0 intronic rs10743890 KLRC3 AU NM_007333 exon3 c.2891+61C>T 0.986821 1 Uncertain 12_10571177_A->G 12 10571177 10571177 A G snp 1651.77 1/1 99 54 0 54 1.0 intronic rs4394921 KLRC3 AU NM_007333 exon3 c.2891+80A>G 0.986821 1 Uncertain 12_10571504_C->T 12 10571504 10571504 C T snp 384.77 1/1 30 13 0 13 1.0 intronic rs4579992 KLRC3 AU NM_007333 exon4 c.3436-138C>T 0.97524 0.9514 Uncertain 12_10571514_C->G 12 10571514 10571514 C G snp 371.77 1/1 30 14 0 14 1.0 intronic rs4275705 KLRC3 AU NM_007333 exon4 c.3436-128C>G Uncertain 12_10571536_-->T 12 10571536 10571536 - T indel 514.73 1/1 42 14 0 14 1.0 intronic rs33947579 KLRC3 AU NM_007333 exon4 c.3436-106insT 0.97504 0.9911 Uncertain 12_10571622_G->A 12 10571622 10571622 G A snp 113.03 1/1 12 5 0 5 1.0 intronic rs4093355 KLRC3 AU NM_007333 exon4 c.3436-20G>A 0.973043 0.999 0.4 0.9844 Uncertain 12_10571650_G->C 12 10571650 10571650 G C snp 35.74 1/1 6 3 0 3 1.0 exonic rs28521176 KLRC3 AU synonymous SNV NM_002261 exon3 c.C324G p.T108T 0.973043 0.999 0.3430 1 Uncertain 12_10572839_A->T 12 10572839 10572839 A T snp 503.77 1/1 39 14 0 14 1.0 intronic rs2253365 KLRC3 AU NM_007333 exon6 c.4756-123A>T 0.821885 0.8046 Uncertain 12_10572982_A->G 12 10572982 10572982 A G snp 6567.77 1/1 99 250 0 250 1.0 exonic rs2741881 KLRC3 AU synonymous SNV NM_002261 exon1 c.T168C p.D56D 0.986821 1 0.984853 0.9955 1 Uncertain 12_10573094_C->G 12 10573094 10573094 C G snp 3560.77 1/1 90 167 20 147 0.88 exonic rs2682491 KLRC3 AU nonsynonymous SNV NM_002261 exon1 c.G56C p.W19S 0.44349 0.5159 0.5398 0.4646 0.04 T 0.0 P -0.984 T 0.001 T 0.0 T Pathogenic 12_10573095_A->G 12 10573095 10573095 A G snp 3890.77 1/1 99 165 0 165 1.0 exonic rs2682490 KLRC3 AU nonsynonymous SNV NM_002261 exon1 c.T55C p.W19R 0.985623 0.999 0.9954 0.9999 1 T 0.0 P -1.008 T 0.0 T 0.0 T Pathogenic 12_10573145_C->T 12 10573145 10573145 C T snp 1173.77 0/1 99 79 27 52 0.66 exonic rs2682489 KLRC3 AU nonsynonymous SNV NM_002261 exon1 c.G5A p.S2N 0.5718 0.5896 1 T 0.0 P -1.009 T 0.0 T 0.001 T Pathogenic 12_10573211_A->G 12 10573211 10573211 A G snp 108.77 0/1 99 17 9 8 0.47 upstream rs10734829 KLRC3 AU Uncertain 12_10574759_G->T 12 10574759 10574759 G T snp 90.77 0/1 99 49 29 20 0.41 intergenic rs3759267 KLRC3 AU Uncertain 12_10583611_C->T 12 10583611 10583611 C T snp 187.9 1/1 15 7 0 7 1.0 UTR3 rs3003 KLRC2 AU 0.61222 0.7252 Uncertain 12_10583696_C->T 12 10583696 10583696 C T snp 2192.77 1/1 99 73 0 73 1.0 UTR3 rs2981593 KLRC2 AU 0.483027 0.7113 0.451558 0.5262 0.7030 Uncertain 12_10586921_C->T 12 10586921 10586921 C T snp 426.77 0/1 99 71 46 25 0.35 intronic KLRC2 AU NM_002260 exon4 c.3369-163C>T Uncertain 12_10586946_C->T 12 10586946 10586946 C T snp 1180.77 0/1 99 150 93 57 0.38 intronic rs113946028 KLRC2 AU NM_002260 exon4 c.3369-138C>T Uncertain 12_10586956_C->G 12 10586956 10586956 C G snp 1663.77 0/1 99 192 112 80 0.42 intronic rs72475445 KLRC2 AU NM_002260 exon4 c.3369-128C>G Uncertain 12_10586961_T->C 12 10586961 10586961 T C snp 3038.77 0/1 99 213 92 121 0.57 intronic rs1356930 KLRC2 AU NM_002260 exon4 c.3369-123T>C Uncertain 12_10586978_-->T 12 10586978 10586978 - T indel 3067.73 0/1 99 240 142 98 0.41 intronic rs144149096 KLRC2 AU NM_002260 exon4 c.3369-106insT 0.520367 0.5298 Uncertain 12_10587111_A->G 12 10587111 10587111 A G snp 6140.77 1/1 99 210 1 209 1.0 exonic rs1141715 KLRC2 AU nonsynonymous SNV NM_002260 exon3 c.T305C p.F102S 0.8180 0.8112 1 T 0.0 P -0.985 T 0.0 T 0.001 T Pathogenic 12_10587158_A->T 12 10587158 10587158 A T snp 1206.77 0/1 99 94 46 48 0.51 intronic rs35801775 KLRC2 AU NM_002260 exon4 c.3414+29A>T 0.538116 0.5401 0.5966 Uncertain 12_10587631_C->T 12 10587631 10587631 C T snp 2233.77 1/1 99 76 0 76 1.0 intronic rs12230949 KLRC2 AU NM_002260 exon5 c.4195-279C>T 0.295527 0.5169 0.3368 0.5768 Uncertain 12_10588012_G->T 12 10588012 10588012 G T snp 1023.77 0/1 99 205 149 56 0.27 splicing rs368882379 KLRC2 AU NM_002260 exon5 c.4294+3G>T 0.0008 0.0052 Pathogenic 12_10588196_A->G 12 10588196 10588196 A G snp 138.77 0/1 99 9 3 6 0.67 intronic rs34564759 KLRC2 AU NM_002260 exon5 c.4294+187A>G Uncertain 12_10588444_G->C 12 10588444 10588444 G C snp 45.77 0/1 74 223 201 22 0.1 exonic rs111237999 KLRC2 AU nonsynonymous SNV NM_002260 exon1 c.C142G p.P48A 0.0249601 0.0298 0.0003 0.0005 1 T 1 N -0.916 T 0.0 T 0.0 T Pathogenic 12_10588454_A->G 12 10588454 10588454 A G snp 324.77 0/1 99 230 200 30 0.13 exonic rs111449827 KLRC2 AU synonymous SNV NM_002260 exon1 c.T132C p.N44N 0.0006 0.0005 Uncertain 12_10588530_C->G 12 10588530 10588530 C G snp 1757.77 0/1 99 247 152 95 0.38 exonic rs75545535 KLRC2 AU nonsynonymous SNV NM_002260 exon1 c.G56C p.R19P 0.4118 0.3898 0.01 T 1 N -0.904 T 0.999 D 0.971 D Pathogenic 12_10588581_T->C 12 10588581 10588581 T C snp 1474.77 0/1 99 183 101 82 0.45 exonic rs28403159 KLRC2 AU nonsynonymous SNV NM_002260 exon1 c.A5G p.N2S 0.3996 0.3685 0.2 T 1.000 N -0.872 T 0.005 T 0.012 T Pathogenic 12_10588647_A->G 12 10588647 10588647 A G snp 1058.77 0/1 99 56 19 37 0.66 upstream rs28730284 KLRC2 AU Uncertain 12_10594848_C->A 12 10594848 10594848 C A snp 331.78 1/1 27 24 0 24 1.0 intergenic rs10909609 KLRC2 AU 0.611422 0.7292 0.0252 0.1071 Uncertain 12_10599427_C->T 12 10599427 10599427 C T snp 490.77 1/1 39 14 0 14 1.0 intronic rs4763533 KLRC1 AU NM_213658 exon1 c.112+166C>T 0.379393 0.5367 Uncertain 12_10602077_C->T 12 10602077 10602077 C T snp 1401.77 1/1 99 41 0 41 1.0 intronic rs2734440 KLRC1 AU NM_213658 exon3 c.2838+90C>T 0.49401 0.5942 Uncertain 12_10603670_T->C 12 10603670 10603670 T C snp 5140.77 1/1 99 189 0 189 1.0 exonic rs2253849 KLRC1 AU nonsynonymous SNV NM_002259 exon2 c.A86G p.N29S 0.987021 1 0.985468 0.9957 1 1 T 0.0 P -1.021 T 0.0 T 0.0 T Pathogenic 12_10658507_G->A 12 10658507 10658507 G A snp 2676.77 0/1 99 217 105 112 0.52 intergenic rs10845152 KLRC1 AU 0.174121 0.1855 0.2192 0.1746 Uncertain 12_10658942_C->T 12 10658942 10658942 C T snp 656.77 0/1 99 78 52 26 0.33 intergenic rs7135490 KLRC1 AU 0.146765 0.0327 0.1524 0.0239 Uncertain 12_10659228_A->T 12 10659228 10659228 A T snp 3224.61 0/1 99 249 118 131 0.53 intergenic rs11053826 KLRC1 AU 0.166534 0.1845 0.2188 0.1734 0.03 T -1.089 T Uncertain 12_10659438_T->C 12 10659438 10659438 T C snp 5749.77 1/1 99 191 0 191 1.0 intergenic rs10772299 KLRC1 AU 0.988818 1 0.9963 1 1 T -0.920 T Uncertain 12_10659964_C->G 12 10659964 10659964 C G snp 1684.77 1/1 99 48 0 48 1.0 intergenic rs10772300 KLRC1 AU 0.988818 1 0.9963 1 Uncertain 12_10675250_G->C 12 10675250 10675250 G C snp 3919.77 1/1 99 143 0 143 1.0 intergenic rs7980396 KLRC1 AU 0.806909 0.9266 0.8438 0.9545 0 D -1.053 T Uncertain 12_10675295_G->A 12 10675295 10675295 G A snp 1748.77 0/1 99 151 73 78 0.52 intergenic rs10845155 KLRC1 AU 0.175719 0.1865 0.2407 0.1789 Uncertain 12_10746385_G->A 12 10746385 10746385 G A snp 880.77 1/1 66 26 0 26 1.0 ncRNA_exonic rs2244387 KLRAP1 AU 0.866214 0.9663 0.819056 0.8279 0.9659 Uncertain 12_10748314_C->T 12 10748314 10748314 C T snp 710.77 0/1 99 54 21 33 0.61 ncRNA_exonic rs2168749 KLRAP1 AU 0.295527 0.1429 0.409923 0.4033 0.1169 Uncertain 12_10748403_A->T 12 10748403 10748403 A T snp 1896.77 1/1 99 71 0 71 1.0 ncRNA_exonic rs2682484 KLRAP1 AU 0.851238 0.994 0.794629 0.8284 0.9955 Uncertain 12_10759032_T->C 12 10759032 10759032 T C snp 665.77 1/1 51 30 0 30 1.0 intronic rs10772333 MAGOHB AU NM_018048 exon1 c.100+59T>C 0.759784 0.9901 Uncertain 12_10760305_G->C 12 10760305 10760305 G C snp 266.77 0/1 99 21 10 11 0.52 intronic rs2290718 MAGOHB AU NM_018048 exon2 c.1579-147G>C 0.382788 0.7927 Uncertain 12_10760328_G->A 12 10760328 10760328 G A snp 728.77 1/1 54 27 0 27 1.0 intronic rs3947920 MAGOHB AU NM_018048 exon2 c.1579-124G>A 0.782348 0.9931 Uncertain 12_10760335_T->A 12 10760335 10760335 T A snp 790.77 1/1 57 30 0 30 1.0 intronic rs2125090 MAGOHB AU NM_018048 exon2 c.1579-117T>A 0.761182 0.9901 Uncertain 12_10760380_G->A 12 10760380 10760380 G A snp 1132.77 1/1 81 43 0 43 1.0 intronic rs2125089 MAGOHB AU NM_018048 exon2 c.1579-72G>A 0.835264 0.9931 Uncertain 12_10760624_T->C 12 10760624 10760624 T C snp 119.77 0/1 99 9 4 5 0.56 intronic rs10845180 MAGOHB AU NM_018048 exon2 c.1662+89T>C 0.358027 0.7927 Uncertain 12_10762069_G->A 12 10762069 10762069 G A snp 1159.77 1/1 84 38 0 38 1.0 intronic rs7311796 MAGOHB AU NM_018048 exon3 c.3556-360G>A 0.835064 0.9931 Uncertain 12_10763205_T->C 12 10763205 10763205 T C snp 155.77 0/1 99 13 6 7 0.54 intronic rs11053880 MAGOHB AU NM_018048 exon4 c.4347-15T>C 0.383387 0.7927 0.222453 0.3487 0.8338 Uncertain 12_10763236_G->C 12 10763236 10763236 G C snp 517.77 1/1 39 23 0 23 1.0 exonic rs10845182 MAGOHB AU synonymous SNV NM_018048 exon2 c.C138G p.V46V 0.740815 0.9901 0.696060 0.7897 0.9913 Uncertain 12_10766244_A->C 12 10766244 10766244 A C snp 5142.77 1/1 99 182 3 179 0.98 upstream rs10772335 MAGOHB AU 0.759784 0.9901 Uncertain 12_10774320_A->G 12 10774320 10774320 A G snp 216.77 0/1 99 14 7 7 0.5 intronic rs755498 STYK1 AU NM_018423 exon2 c.1732-154A>G 0.353235 0.2242 Uncertain 12_10774698_A->G 12 10774698 10774698 A G snp 44.77 0/1 33 3 1 2 0.67 intronic rs2900467 STYK1 AU NM_018423 exon2 c.1829+127A>G 0.280551 0.1815 Uncertain 12_10775195_T->C 12 10775195 10775195 T C snp 2765.77 0/1 99 239 119 120 0.5 intronic rs1078437 STYK1 AU NM_018423 exon3 c.2494-41T>C 0.300919 0.1776 0.358834 0.3300 0.1599 Uncertain 12_10780021_C->T 12 10780021 10780021 C T snp 93.28 1/1 9 4 0 4 1.0 intronic rs2417910 STYK1 AU NM_018423 exon5 c.7497-218C>T 0.939297 1 Uncertain 12_10780205_G->A 12 10780205 10780205 G A snp 3276.77 0/1 99 250 131 119 0.48 intronic rs2125088 STYK1 AU NM_018423 exon5 c.7497-34G>A 0.178914 0.0972 0.203906 0.2123 0.0897 Uncertain 12_10780434_A->T 12 10780434 10780434 A T snp 512.77 1/1 39 14 0 14 1.0 intronic rs2168748 STYK1 AU NM_018423 exon5 c.7581+111A>T 0.598442 0.7897 Uncertain 12_10782115_T->C 12 10782115 10782115 T C snp 1199.77 1/1 87 37 0 37 1.0 exonic rs3759259 STYK1 AU nonsynonymous SNV NM_018423 exon6 c.A610G p.S204G 0.598642 0.7917 0.518145 0.6232 0.8030 0.03 T 0.001 P -0.955 T 0.001 T 0.01 T Pathogenic 12_10784021_G->C 12 10784021 10784021 G C snp 287.78 1/1 24 8 0 8 1.0 intronic rs2168746 STYK1 AU NM_018423 exon7 c.11165+114G>C 0.598043 0.7917 Uncertain 12_10786757_-->GAA 12 10786757 10786757 - GAA indel 4531.73 1/1 99 95 0 95 1.0 intronic rs3059686 STYK1 AU NM_018423 exon8 c.13981+34insGAA 0.949481 1 0.937620 0.9832 0.9999 Uncertain 12_10786797_C->T 12 10786797 10786797 C T snp 1857.77 1/1 99 67 0 67 1.0 intronic rs2252664 STYK1 AU NM_018423 exon8 c.13981+74C>T 0.597843 0.7917 Uncertain 12_10854537_C->T 12 10854537 10854537 C T snp 135.77 0/1 99 12 7 5 0.42 intronic rs2305849 YBX3 AU NM_001145426 exon3 c.672-21C>T 0.265775 0.4851 0.173228 0.2380 0.4994 Uncertain 12_10856219_C->T 12 10856219 10856219 C T snp 579.77 0/1 99 69 39 30 0.43 intronic rs2418102 YBX3 AU NM_001145426 exon4 c.2763-430C>T 0.424321 0.6498 0.4479 0.6429 Uncertain 12_10856255_A->G 12 10856255 10856255 A G snp 748.77 0/1 99 68 35 33 0.49 intronic rs2418103 YBX3 AU NM_001145426 exon4 c.2763-394A>G 0.262181 0.4871 0.3347 0.4556 Uncertain 12_10856799_T->C 12 10856799 10856799 T C snp 1526.77 0/1 99 103 38 65 0.63 intronic rs7963247 YBX3 AU NM_001145426 exon4 c.2861+52T>C 0.262181 0.4871 0.167217 0.2351 0.5025 Uncertain 12_10856846_A->- 12 10856846 10856846 A - indel 199.73 0/1 99 29 18 11 0.38 intronic rs141466000 YBX3 AU NM_001145426 exon4 c.2861+99delA 0.266973 0.2579 Uncertain 12_10865971_G->C 12 10865971 10865971 G C snp 1090.77 0/1 99 100 49 51 0.51 intronic rs2305848 YBX3 AU NM_001145426 exon5 c.12046+39G>C 0.262979 0.4881 0.173462 0.2395 0.5026 Uncertain 12_10871667_A->G 12 10871667 10871667 A G snp 1758.77 1/1 99 65 0 65 1.0 intronic rs33016 YBX3 AU NM_001145426 exon8 c.17792-11A>G 0.941693 0.9712 0.949708 0.9785 0.9695 Uncertain 12_10954383_T->A 12 10954383 10954383 T A snp 2250.77 0/1 99 196 94 102 0.52 exonic TAS2R7 AU nonsynonymous SNV NM_023919 exon1 c.A787T p.T263S 0.019369 0.0754 0.007612 0.0100 0.0584 0.43 T 1 N -0.860 T 0.002 T 0.01 T Pathogenic 12_10954632_C->A 12 10954632 10954632 C A snp 2209.77 0/1 99 203 117 86 0.42 exonic TAS2R7 AU nonsynonymous SNV NM_023919 exon1 c.G538T p.A180S 0.019369 0.0754 0.007458 0.0100 0.0591 0.2 T 1 N -0.922 T 0.024 T 0.035 T Pathogenic 12_10954916_A->G 12 10954916 10954916 A G snp 1698.77 0/1 99 133 67 66 0.5 exonic TAS2R7 AU nonsynonymous SNV NM_023919 exon1 c.T254C p.I85T 0.019369 0.0754 0.007689 0.0100 0.0586 0.06 T 1 N -1.024 T 0.389 T 0.403 T Pathogenic 12_10958658_T->C 12 10958658 10958658 T C snp 396.77 1/1 30 19 0 19 1.0 exonic TAS2R8 AU nonsynonymous SNV NM_023918 exon1 c.A922G p.M308V 0.873403 1 0.873066 0.9617 1 1 T 0.0 P -0.922 T 0.0 T 0.0 T Pathogenic 12_10959031_C->T 12 10959031 10959031 C T snp 2238.77 0/1 99 194 99 95 0.49 exonic TAS2R8 AU synonymous SNV NM_023918 exon1 c.G549A p.L183L 0.503994 0.6448 0.477933 0.5834 0.6638 Uncertain 12_10959438_G->A 12 10959438 10959438 G A snp 1031.77 0/1 99 86 40 46 0.53 exonic TAS2R8 AU nonsynonymous SNV NM_023918 exon1 c.C142T p.L48F 0.0183706 0.0734 0.006689 0.0098 0.0581 0.03 T 1 N -0.965 T 0.75 T 0.558 P Pathogenic 12_10961978_C->T 12 10961978 10961978 C T snp 1064.77 0/1 99 74 37 37 0.5 exonic TAS2R9 AU nonsynonymous SNV NM_023917 exon1 c.G697A p.A233T 0.0183706 0.0734 0.006535 0.0098 0.0580 0.95 T 1 N -1.069 T 0.483 P 0.225 P Pathogenic 12_10962085_G->A 12 10962085 10962085 G A snp 1229.77 0/1 99 128 71 57 0.45 exonic TAS2R9 AU nonsynonymous SNV NM_023917 exon1 c.C590T p.S197L 0.00219649 0.0099 0.0009 0.0124 0 D 1 N -0.755 T 1.0 D 1.0 D Pathogenic 12_10962115_A->G 12 10962115 10962115 A G snp 3709.77 1/1 99 127 0 127 1.0 exonic TAS2R9 AU nonsynonymous SNV NM_023917 exon1 c.T560C p.V187A 0.53095 0.7183 0.493311 0.5964 0.7220 0.85 T 0.0 P -0.968 T 0.0 T 0.0 T ID=CM087521;DIS=Glucose homeostasis, association with;TAG=DFP;PUB=19092995 DFP Pathogenic 12_10978402_G->A 12 10978402 10978402 G A snp 2002.77 1/1 99 64 0 64 1.0 exonic TAS2R10 AU nonsynonymous SNV NM_023921 exon1 c.C467T p.T156M 0.942891 1 0.939781 0.9786 1 0.25 T 0.0 P -0.929 T 0.0 T 0.001 T Pathogenic 12_10999708_T->C 12 10999708 10999708 T C snp 1523.77 0/1 99 107 45 62 0.58 exonic PRR4 AU nonsynonymous SNV NM_001098538 exon3 c.A127G p.R43G 0.73742 0.9196 0.711570 0.8221 0.9358 0.52 T 0.0 P -1.043 T 0.689 T 0.065 P Pathogenic 12_10999780_C->T 12 10999780 10999780 C T snp 1500.77 0/1 99 96 39 57 0.59 exonic PRR4 AU nonsynonymous SNV NM_007244 exon3 c.G287A p.R96Q 0.521765 0.7093 0.458387 0.5897 0.7197 0 D 0.0 P -0.985 T 0.006 T 0.001 T Pathogenic 12_11001876_C->T 12 11001876 11001876 C T snp 219.77 0/1 99 15 6 9 0.6 ncRNA_intronic PRH1-PRR4 AU 0.0191693 0.0794 Uncertain 12_11035274_G->T 12 11035274 11035274 G T snp 465.77 0/1 99 105 69 36 0.34 exonic PRH1 AU nonsynonymous SNV NM_001291315 exon5 c.C163A p.L55I 0.470447 0.6806 0.3006 0.4623 0.26 T 0.0 P -0.993 T Pathogenic 12_11035368_T->G 12 11035368 11035368 T G snp 577.77 0/1 99 54 27 27 0.5 ncRNA_intronic PRH1-PRR4 AU 0.534545 0.7312 Uncertain 12_11035482_T->C 12 11035482 11035482 T C snp 1860.77 0/1 99 120 49 71 0.59 ncRNA_intronic PRH1-PRR4 AU 0.534744 0.7312 Uncertain 12_11035533_G->A 12 11035533 11035533 G A snp 2822.77 0/1 99 238 114 124 0.52 ncRNA_intronic PRH1-PRR4 AU 0.558706 0.7312 Uncertain 12_11061122_T->C 12 11061122 11061122 T C snp 2084.77 0/1 99 190 108 82 0.43 exonic TAS2R13 AU nonsynonymous SNV NM_023920 exon1 c.A776G p.N259S 0.520367 0.7242 0.459173 0.5853 0.7299 0.34 T 0.0 P -1.154 T 0.04 T 0.129 T Pathogenic 12_11083356_A->G 12 11083356 11083356 A G snp 257.77 0/1 99 223 188 35 0.16 exonic PRH2 AU nonsynonymous SNV NM_001110213 exon3 c.A196G p.N66D 0.0258 0.0165 1 T 0.0 P -0.994 T Pathogenic 12_11083677_T->C 12 11083677 11083677 T C snp 222.77 0/1 99 36 18 18 0.5 ncRNA_intronic PRH1-PRR4 AU 0.782548 0.9226 0.696799 0.8361 0.9362 Uncertain 12_11091432_C->T 12 11091432 11091432 C T snp 1697.77 0/1 99 144 71 73 0.51 exonic TAS2R14 AU synonymous SNV NM_023922 exon1 c.G375A p.R125R 0.775759 0.9226 0.742347 0.8430 0.9405 Uncertain 12_11091455_T->C 12 11091455 11091455 T C snp 1889.77 0/1 99 150 73 77 0.51 exonic TAS2R14 AU nonsynonymous SNV NM_023922 exon1 c.A352G p.I118V 0.000998403 0.005 0.000077 0.0001 0.0019 0.06 T 1 N -1.009 T 0.379 T 0.241 T Pathogenic 12_11138683_C->T 12 11138683 11138683 C T snp 5881.77 1/1 99 213 0 213 1.0 exonic TAS2R50 AU synonymous SNV NM_176890 exon1 c.G777A p.P259P 0.547125 0.755 0.485314 0.6096 0.7524 Uncertain 12_11138852_C->T 12 11138852 11138852 C T snp 3617.77 1/1 99 123 0 123 1.0 exonic TAS2R50 AU nonsynonymous SNV NM_176890 exon1 c.G608A p.C203Y 0.410343 0.755 0.253575 0.3968 0.7524 0.31 T 0.000 P -1.009 T 0.037 T 0.081 T ID=CM053427;DIS=Myocardial infarction, association with;TAG=DP;PUB=16175505 DP Pathogenic 12_11149532_A->G 12 11149532 11149532 A G snp 3294.77 1/1 99 107 0 107 1.0 ncRNA_intronic PRH1-PRR4 AU 0.423323 0.755 0.265800 0.4122 0.7517 Uncertain 12_11149711_C->A 12 11149711 11149711 C A snp 4171.77 1/1 99 139 0 139 1.0 exonic TAS2R20 AU nonsynonymous SNV NM_176889 exon1 c.G764T p.R255L 0.423123 0.755 0.265877 0.4111 0.7512 1 T 0.0 P -0.918 T 0.0 T 0.001 T Pathogenic 12_11149720_A->G 12 11149720 11149720 A G snp 3918.77 1/1 99 127 0 127 1.0 exonic TAS2R20 AU nonsynonymous SNV NM_176889 exon1 c.T755C p.F252S 0.422923 0.755 0.265877 0.4112 0.7514 0.41 T 0.0 P -0.974 T 0.0 T 0.002 T Pathogenic 12_11149769_T->C 12 11149769 11149769 T C snp 4043.77 1/1 99 116 0 116 1.0 exonic TAS2R20 AU nonsynonymous SNV NM_176889 exon1 c.A706G p.I236V 0.422923 0.755 0.265877 0.4115 0.7521 0.03 T 0.0 P -1.073 T 0.0 T 0.004 T Pathogenic 12_11150033_G->T 12 11150033 11150033 G T snp 5602.77 1/1 99 191 0 191 1.0 exonic TAS2R20 AU nonsynonymous SNV NM_176889 exon1 c.C442A p.H148N 0.428315 0.755 0.272028 0.4130 0.7511 1 T 0.0 P -0.892 T 0.0 T 0.0 T Pathogenic 12_11150046_G->T 12 11150046 11150046 G T snp 5120.77 1/1 99 177 0 177 1.0 exonic TAS2R20 AU nonsynonymous SNV NM_176889 exon1 c.C429A p.H143Q 0.423123 0.755 0.265570 0.4113 0.7508 0.32 T 0.0 P -0.967 T 0.011 T 0.042 T Pathogenic 12_11150054_C->T 12 11150054 11150054 C T snp 2439.77 0/1 99 178 84 94 0.53 exonic TAS2R20 AU nonsynonymous SNV NM_176889 exon1 c.G421A p.V141I 0.182907 0.3185 0.149393 0.1841 0.2770 0.34 T 0.0 P -0.963 T 0.0 T 0.007 T Pathogenic 12_11150214_G->A 12 11150214 11150214 G A snp 1019.77 1/1 75 28 0 28 1.0 exonic TAS2R20 AU synonymous SNV NM_176889 exon1 c.C261T p.A87A 0.422923 0.755 0.262660 0.4132 0.7510 Uncertain 12_11150319_T->C 12 11150319 11150319 T C snp 1531.77 1/1 99 57 0 57 1.0 exonic TAS2R20 AU synonymous SNV NM_176889 exon1 c.A156G p.A52A 0.422923 0.755 0.264113 0.4139 0.7510 Uncertain 12_11150541_A->- 12 11150541 11150541 A - indel 1108.73 1/1 81 27 0 27 1.0 ncRNA_intronic PRH1-PRR4 AU 0.422923 0.755 Uncertain 12_11150551_G->A 12 11150551 11150551 G A snp 707.77 1/1 51 25 0 25 1.0 ncRNA_intronic PRH1-PRR4 AU 0.758986 0.9514 Uncertain 12_11150579_C->T 12 11150579 11150579 C T snp 657.77 1/1 48 20 0 20 1.0 ncRNA_intronic PRH1-PRR4 AU 0.835463 0.9514 Uncertain 12_11174168_T->C 12 11174168 11174168 T C snp 280.77 0/1 99 39 29 10 0.26 ncRNA_intronic PRH1-PRR4 AU Uncertain 12_11174181_T->C 12 11174181 11174181 T C snp 418.77 0/1 99 50 35 15 0.3 ncRNA_intronic PRH1-PRR4 AU Uncertain 12_11174186_C->T 12 11174186 11174186 C T snp 448.77 0/1 99 54 39 15 0.28 ncRNA_intronic PRH1-PRR4 AU Uncertain 12_11174202_G->C 12 11174202 11174202 G C snp 751.77 0/1 99 82 55 27 0.33 ncRNA_intronic PRH1-PRR4 AU Uncertain 12_11174213_G->A 12 11174213 11174213 G A snp 1000.77 0/1 99 99 63 36 0.36 ncRNA_intronic PRH1-PRR4 AU Uncertain 12_11174219_C->A 12 11174219 11174219 C A snp 1079.77 0/1 99 109 71 38 0.35 ncRNA_intronic PRH1-PRR4 AU Uncertain 12_11174223_G->C 12 11174223 11174223 G C snp 1074.77 0/1 99 113 75 38 0.34 ncRNA_intronic PRH1-PRR4 AU 0.0903 0.1254 Uncertain 12_11174261_C->G 12 11174261 11174261 C G snp 1427.77 0/1 99 190 127 63 0.33 ncRNA_intronic PRH1-PRR4 AU 0.0614 0.0732 Uncertain 12_11174264_C->A 12 11174264 11174264 C A snp 1433.77 0/1 99 193 130 63 0.33 ncRNA_intronic PRH1-PRR4 AU 0.0584 0.0673 Uncertain 12_11174271_T->C 12 11174271 11174271 T C snp 1446.77 0/1 99 202 137 65 0.32 exonic TAS2R19 AU stoploss NM_176888 exon1 c.A900G p.X300W 0.0588 0.0723 1 N Uncertain 12_11174276_G->A 12 11174276 11174276 G A snp 1373.77 0/1 99 206 139 67 0.33 exonic TAS2R19 AU nonsynonymous SNV NM_176888 exon1 c.C895T p.R299C 0.34984 0.1944 0.459865 0.4654 0.2676 0.01 T 0.0 P -1.059 T 0.0 T 0.0 T ID=CM106747;DIS=Quinine taste sensitivity, association with;TAG=DP;PUB=20675712 DP Pathogenic 12_11174277_T->C 12 11174277 11174277 T C snp 1429.77 0/1 99 207 142 65 0.31 exonic TAS2R19 AU synonymous SNV NM_176888 exon1 c.A894G p.T298T 0.0564 0.0713 Uncertain 12_11174282_T->C 12 11174282 11174282 T C snp 1481.77 0/1 99 220 151 69 0.31 exonic TAS2R19 AU nonsynonymous SNV NM_176888 exon1 c.A889G p.M297V 0.0560 0.0711 1 T 1 N -0.928 T 0.0 T 0.002 T Pathogenic 12_11174286_C->A 12 11174286 11174286 C A snp 1621.77 0/1 99 229 156 73 0.32 exonic TAS2R19 AU nonsynonymous SNV NM_176888 exon1 c.G885T p.W295C 0.0536 0.0705 0.16 T 1 N -1.032 T 0.014 T 0.049 T Pathogenic 12_11174302_A->G 12 11174302 11174302 A G snp 2050.77 0/1 99 250 159 91 0.36 exonic TAS2R19 AU nonsynonymous SNV NM_176888 exon1 c.T869C p.F290S 0.1012 0.1332 0.35 T 1 N -1.002 T 0.933 T 0.718 D Pathogenic 12_11174327_C->T 12 11174327 11174327 C T snp 2044.77 0/1 99 250 160 90 0.36 exonic TAS2R19 AU nonsynonymous SNV NM_176888 exon1 c.G844A p.G282R 0.2133 0.2836 0.07 T 1 N -0.870 T 0.886 T 0.521 P Pathogenic 12_11174372_C->G 12 11174372 11174372 C G snp 1912.77 0/1 99 244 160 84 0.34 exonic TAS2R19 AU nonsynonymous SNV NM_176888 exon1 c.G799C p.V267L 0.000199681 0.0984 0.1502 0.14 T 1 N -1.057 T 0.0 T 0.001 T Pathogenic 12_11174380_C->T 12 11174380 11174380 C T snp 1803.77 0/1 99 240 161 79 0.33 exonic TAS2R19 AU nonsynonymous SNV NM_176888 exon1 c.G791A p.C264Y 0.0844 0.1198 0.02 T 1 N -1.035 T 0.97 D 0.845 D Pathogenic 12_11174390_G->A 12 11174390 11174390 G A snp 1580.77 0/1 99 220 150 70 0.32 exonic TAS2R19 AU nonsynonymous SNV NM_176888 exon1 c.C781T p.L261F 0.0610 0.0821 1 T 1 N -0.981 T 0.001 T 0.009 T Pathogenic 12_11174397_T->A 12 11174397 11174397 T A snp 1378.77 0/1 99 204 138 66 0.32 exonic TAS2R19 AU nonsynonymous SNV NM_176888 exon1 c.A774T p.K258N 0.0590 0.0783 0.3 T 1 N -0.916 T 0.009 T 0.034 T Pathogenic 12_11174416_A->G 12 11174416 11174416 A G snp 1150.77 0/1 99 179 127 52 0.29 exonic TAS2R19 AU nonsynonymous SNV NM_176888 exon1 c.T755C p.L252P 0.0077 0.0048 0.21 T 1.000 N -1.075 T 0.0 T 0.003 T Pathogenic 12_11174466_G->A 12 11174466 11174466 G A snp 230.77 0/1 99 116 101 15 0.13 exonic TAS2R19 AU synonymous SNV NM_176888 exon1 c.C705T p.L235L 0.0003 0.0009 Uncertain 12_11174476_G->A 12 11174476 11174476 G A snp 59.77 0/1 88 116 106 10 0.09 exonic TAS2R19 AU nonsynonymous SNV NM_176888 exon1 c.C695T p.T232I 0.0002 0.0010 1 T 1 N -0.970 T 0.0 T 0.002 T Pathogenic 12_11174478_C->A 12 11174478 11174478 C A snp 68.77 0/1 97 115 105 10 0.09 exonic TAS2R19 AU synonymous SNV NM_176888 exon1 c.G693T p.V231V 0.0002 0.0009 Uncertain 12_11174753_G->A 12 11174753 11174753 G A snp 1947.77 0/1 99 156 78 78 0.5 exonic TAS2R19 AU synonymous SNV NM_176888 exon1 c.C418T p.L140L 0.700879 0.8611 0.681916 0.7805 0.8867 Uncertain 12_11182998_C->T 12 11182998 11182998 C T snp 2662.77 0/1 99 250 137 113 0.45 ncRNA_intronic PRH1-PRR4 AU 0.3101 0.4614 Uncertain 12_11182999_A->C 12 11182999 11182999 A C snp 2703.77 0/1 99 250 138 112 0.45 ncRNA_intronic PRH1-PRR4 AU 0.3095 0.4652 Uncertain 12_11183042_C->G 12 11183042 11183042 C G snp 1653.77 0/1 99 250 173 77 0.31 exonic TAS2R31 AU nonsynonymous SNV NM_176885 exon1 c.G893C p.R298T 0.0060 0.0231 0.13 T 1 N -1.019 T 0.727 T 0.6 P Pathogenic 12_11183046_C->T 12 11183046 11183046 C T snp 1504.77 0/1 99 250 176 74 0.3 exonic TAS2R31 AU nonsynonymous SNV NM_176885 exon1 c.G889A p.V297M 0.0130 0.0296 0.19 T 1 N -0.923 T 0.122 T 0.292 T Pathogenic 12_11183052_G->A 12 11183052 11183052 G A snp 1380.77 0/1 99 250 181 69 0.28 exonic TAS2R31 AU nonsynonymous SNV NM_176885 exon1 c.C883T p.R295W 0.000199681 0.001 0.0131 0.0295 1 T 1 N -1.005 T 0.001 T 0.004 T Pathogenic 12_11183066_A->T 12 11183066 11183066 A T snp 1012.77 0/1 99 250 192 58 0.23 exonic TAS2R31 AU nonsynonymous SNV NM_176885 exon1 c.T869A p.F290Y 0.0049 0.0083 0.14 T 1 N -0.973 T 0.529 P 0.25 P Pathogenic 12_11183107_T->C 12 11183107 11183107 T C snp 180.77 0/1 99 250 222 28 0.11 exonic TAS2R31 AU synonymous SNV NM_176885 exon1 c.A828G p.P276P 0.0004 0.0007 Uncertain 12_11183451_A->T 12 11183451 11183451 A T snp 3360.77 0/1 99 250 111 139 0.56 exonic TAS2R31 AU nonsynonymous SNV NM_176885 exon1 c.T484A p.L162M 0.694289 0.8611 0.687597 0.7719 0.8880 0.89 T 0.0 P -0.975 T 0.005 T 0.026 T Pathogenic 12_11183475_G->A 12 11183475 11183475 G A snp 836.77 0/1 99 250 178 72 0.29 exonic TAS2R31 AU nonsynonymous SNV NM_176885 exon1 c.C460T p.R154W 0.0548 0.0773 0.9 T 1 N -1.052 T 0.002 T 0.004 T Pathogenic 12_11183484_C->G 12 11183484 11183484 C G snp 844.77 0/1 99 250 177 73 0.29 exonic TAS2R31 AU nonsynonymous SNV NM_176885 exon1 c.G451C p.E151Q 0.0512 0.0692 0.52 T 1 N -0.917 T 0.046 T 0.082 T Pathogenic 12_11183485_T->A 12 11183485 11183485 T A snp 896.77 0/1 99 250 176 74 0.3 exonic TAS2R31 AU nonsynonymous SNV NM_176885 exon1 c.A450T p.K150N 0.0509 0.0685 1 T 1 N -0.921 T 0.0 T 0.004 T Pathogenic 12_11183496_T->C 12 11183496 11183496 T C snp 998.77 0/1 99 250 163 87 0.35 exonic TAS2R31 AU nonsynonymous SNV NM_176885 exon1 c.A439G p.I147V 0.1043 0.1795 0.49 T 1 N -0.941 T 0.001 T 0.006 T Pathogenic 12_11183506_T->A 12 11183506 11183506 T A snp 1100.77 0/1 99 249 151 98 0.39 exonic TAS2R31 AU nonsynonymous SNV NM_176885 exon1 c.A429T p.Q143H 0.1150 0.1891 1 T 1 N -1.026 T 0.0 T 0.004 T Pathogenic 12_11183524_T->C 12 11183524 11183524 T C snp 1331.77 0/1 99 250 142 108 0.43 exonic TAS2R31 AU synonymous SNV NM_176885 exon1 c.A411G p.L137L 0.3182 0.4220 Uncertain 12_11183576_T->C 12 11183576 11183576 T C snp 2107.77 0/1 99 250 130 120 0.48 exonic TAS2R31 AU nonsynonymous SNV NM_176885 exon1 c.A359G p.H120R 0.4766 0.4990 0.27 T 0.0 P -0.994 T 0.011 T 0.05 T Pathogenic 12_11183642_A->G 12 11183642 11183642 A G snp 2410.77 0/1 99 250 150 100 0.4 exonic TAS2R31 AU nonsynonymous SNV NM_176885 exon1 c.T293C p.L98P 0.4771 0.4988 0.01 T 0.000 P -1.186 T 0.595 P 0.451 P Pathogenic 12_11183676_C->T 12 11183676 11183676 C T snp 2073.77 0/1 99 242 148 94 0.39 exonic TAS2R31 AU nonsynonymous SNV NM_176885 exon1 c.G259A p.V87I 0.4727 0.4981 1 T 0.0 P -1.018 T 0.001 T 0.004 T Pathogenic 12_11183697_C->A 12 11183697 11183697 C A snp 1690.77 0/1 99 237 152 85 0.36 exonic TAS2R31 AU nonsynonymous SNV NM_176885 exon1 c.G238T p.V80L 0.4657 0.4968 0.32 T 0.0 P -1.008 T 0.011 T 0.03 T Pathogenic 12_11183708_T->C 12 11183708 11183708 T C snp 1662.77 0/1 99 230 147 83 0.36 exonic TAS2R31 AU nonsynonymous SNV NM_176885 exon1 c.A227G p.Y76C 0.077276 0.2412 0.4383 0.06 T 1 N -1.040 T 0.031 T 0.078 T Pathogenic 12_11183722_A->C 12 11183722 11183722 A C snp 1704.77 0/1 99 219 138 81 0.37 exonic TAS2R31 AU nonsynonymous SNV NM_176885 exon1 c.T213G p.F71L 0.4545 0.4924 1 T 0.0 P -0.946 T 0.005 T 0.042 T Pathogenic 12_11183752_T->C 12 11183752 11183752 T C snp 1198.77 0/1 99 160 106 54 0.34 exonic TAS2R31 AU synonymous SNV NM_176885 exon1 c.A183G p.V61V 0.3733 0.4460 Uncertain 12_11183793_G->C 12 11183793 11183793 G C snp 432.77 0/1 99 121 98 23 0.19 exonic TAS2R31 AU nonsynonymous SNV NM_176885 exon1 c.C142G p.L48V 0.2132 0.2473 0.05 T 1 N -1.087 T 0.75 T 0.558 P Pathogenic 12_11183797_C->T 12 11183797 11183797 C T snp 389.77 0/1 99 125 104 21 0.17 exonic TAS2R31 AU synonymous SNV NM_176885 exon1 c.G138A p.Q46Q 0.2065 0.2273 Uncertain 12_11183809_A->G 12 11183809 11183809 A G snp 195.77 0/1 99 123 109 14 0.11 exonic TAS2R31 AU synonymous SNV NM_176885 exon1 c.T126C p.S42S 0.1708 0.1656 Uncertain 12_11199734_T->C 12 11199734 11199734 T C snp 2630.77 1/1 99 91 0 91 1.0 ncRNA_exonic PRH1-PRR4 AU 0.760982 0.9514 0.718887 Uncertain 12_11201689_C->T 12 11201689 11201689 C T snp 724.77 1/1 54 22 0 22 1.0 ncRNA_intronic PRH1-PRR4 AU 0.976238 1 Uncertain 12_11201846_A->C 12 11201846 11201846 A C snp 276.77 0/1 99 105 75 30 0.29 ncRNA_intronic PRH1-PRR4 AU Uncertain 12_11201871_A->C 12 11201871 11201871 A C snp 77.77 0/1 99 79 68 11 0.14 ncRNA_intronic PRH1-PRR4 AU Uncertain 12_11201873_G->A 12 11201873 11201873 G A snp 298.77 0/1 99 78 60 18 0.23 ncRNA_intronic PRH1-PRR4 AU Uncertain 12_11201877_G->A 12 11201877 11201877 G A snp 317.77 0/1 99 77 59 18 0.23 ncRNA_intronic PRH1-PRR4 AU Uncertain 12_11201889_C->G 12 11201889 11201889 C G snp 287.77 0/1 99 67 50 17 0.25 ncRNA_intronic PRH1-PRR4 AU Uncertain 12_11201928_C->A 12 11201928 11201928 C A snp 105.77 0/1 99 36 29 7 0.19 ncRNA_intronic PRH1-PRR4 AU Uncertain 12_11201933_T->C 12 11201933 11201933 T C snp 103.77 0/1 99 30 24 6 0.2 ncRNA_intronic PRH1-PRR4 AU Uncertain 12_11201934_G->T 12 11201934 11201934 G T snp 98.77 0/1 99 29 23 6 0.21 ncRNA_intronic PRH1-PRR4 AU Uncertain 12_11201950_C->T 12 11201950 11201950 C T snp 55.77 0/1 84 15 11 4 0.27 ncRNA_intronic PRH1-PRR4 AU Uncertain 12_11201953_T->C 12 11201953 11201953 T C snp 60.77 0/1 89 14 10 4 0.29 ncRNA_intronic PRH1-PRR4 AU Uncertain 12_11201962_T->C 12 11201962 11201962 T C snp 342.78 1/1 27 11 0 11 1.0 ncRNA_intronic PRH1-PRR4 AU 0.971446 1 Uncertain 12_11214001_C->G 12 11214001 11214001 C G snp 220.77 0/1 99 250 208 42 0.17 exonic TAS2R46 AU nonsynonymous SNV NM_176887 exon1 c.G893C p.R298T 0.14 T 1 N -0.958 T 0.482 P 0.461 P Pathogenic 12_11214005_C->T 12 11214005 11214005 C T snp 99.77 0/1 99 250 214 36 0.14 exonic TAS2R46 AU nonsynonymous SNV NM_176887 exon1 c.G889A p.V297M 8.29e-06 0 0.2 T 1 N -1.007 T 0.015 T 0.075 T Pathogenic 12_11214006_A->T 12 11214006 11214006 A T snp 83.77 0/1 99 250 217 33 0.13 exonic TAS2R46 AU nonsynonymous SNV NM_176887 exon1 c.T888A p.H296Q 8.289e-06 0 1 T 1 N -1.011 T 0.0 T 0.0 T Pathogenic 12_11214025_A->T 12 11214025 11214025 A T snp 1075.77 0/1 99 250 187 63 0.25 exonic TAS2R46 AU nonsynonymous SNV NM_176887 exon1 c.T869A p.F290Y 9.109e-05 0 0.11 T 1 N -0.913 T 0.254 T 0.247 T Pathogenic 12_11214066_T->C 12 11214066 11214066 T C snp 766.77 0/1 99 250 195 55 0.22 exonic TAS2R46 AU synonymous SNV NM_176887 exon1 c.A828G p.P276P 0.0002 0 Uncertain 12_11214074_T->C 12 11214074 11214074 T C snp 779.77 0/1 99 250 197 53 0.21 exonic TAS2R46 AU nonsynonymous SNV NM_176887 exon1 c.A820G p.T274A 0.000078 0.0002 0 0.7 T 1 N -0.972 T 0.0 T 0.001 T Pathogenic 12_11214080_G->A 12 11214080 11214080 G A snp 745.77 0/1 99 250 200 50 0.2 exonic TAS2R46 AU nonsynonymous SNV NM_176887 exon1 c.C814T p.P272S 6.622e-05 0 0.04 T 0.720 D -0.611 T 0.155 T 0.314 T Pathogenic 12_11214082_T->C 12 11214082 11214082 T C snp 806.77 0/1 99 250 201 49 0.2 exonic TAS2R46 AU nonsynonymous SNV NM_176887 exon1 c.A812G p.Y271C 8.278e-05 0.0001 0.04 T 0.897 N -0.978 T 0.082 T 0.163 T Pathogenic 12_11214091_G->C 12 11214091 11214091 G C snp 653.77 0/1 99 250 202 48 0.19 exonic TAS2R46 AU nonsynonymous SNV NM_176887 exon1 c.C803G p.A268G 7.45e-05 0 1 T 1 N -0.973 T 0.0 T 0.001 T Pathogenic 12_11214101_C->G 12 11214101 11214101 C G snp 653.77 0/1 99 249 202 47 0.19 exonic TAS2R46 AU nonsynonymous SNV NM_176887 exon1 c.G793C p.E265Q 6.623e-05 0 1 T 1 N -0.935 T 0.0 T 0.002 T Pathogenic 12_11214133_C->T 12 11214133 11214133 C T snp 483.77 0/1 99 247 206 41 0.17 exonic TAS2R46 AU nonsynonymous SNV NM_176887 exon1 c.G761A p.S254N 5.793e-05 0 0.48 T 1 N -0.907 T 0.0 T 0.001 T Pathogenic 12_11214137_C->T 12 11214137 11214137 C T snp 467.77 0/1 99 246 206 40 0.16 exonic TAS2R46 AU nonsynonymous SNV NM_176887 exon1 c.G757A p.E253K 4.964e-05 0 0.82 T 1 N -0.940 T 0.0 T 0.001 T Pathogenic 12_11214153_C->T 12 11214153 11214153 C T snp 208.77 0/1 99 243 211 32 0.13 exonic TAS2R46 AU nonsynonymous SNV NM_176887 exon1 c.G741A p.M247I 4.13e-05 0 1 T 1 N -0.961 T 0.0 T 0.0 T Pathogenic 12_11214156_G->T 12 11214156 11214156 G T snp 165.77 0/1 99 244 212 32 0.13 exonic TAS2R46 AU synonymous SNV NM_176887 exon1 c.C738A p.I246I 4.129e-05 0 Uncertain 12_11214161_T->C 12 11214161 11214161 T C snp 180.77 0/1 99 245 214 31 0.13 exonic TAS2R46 AU nonsynonymous SNV NM_176887 exon1 c.A733G p.I245V 4.128e-05 0 0.52 T 1 N -0.928 T 0.0 T 0.002 T Pathogenic 12_11214162_G->A 12 11214162 11214162 G A snp 169.77 0/1 99 246 216 30 0.12 exonic TAS2R46 AU synonymous SNV NM_176887 exon1 c.C732T p.S244S 4.127e-05 0 Uncertain 12_11214167_G->C 12 11214167 11214167 G C snp 145.77 0/1 99 248 218 30 0.12 exonic TAS2R46 AU nonsynonymous SNV NM_176887 exon1 c.C727G p.L243V 5.777e-05 0 0.09 T 1 N -0.942 T 0.016 T 0.074 T Pathogenic 12_11214273_T->C 12 11214273 11214273 T C snp 58.77 0/1 87 250 218 32 0.13 exonic TAS2R46 AU synonymous SNV NM_176887 exon1 c.A621G p.K207K 0.0002 0.0001 Uncertain 12_11214299_T->C 12 11214299 11214299 T C snp 1047.77 0/1 99 249 174 75 0.3 exonic TAS2R46 AU nonsynonymous SNV NM_176887 exon1 c.A595G p.I199V 0.0053 0.0016 0.05 T 1 N -0.979 T 0.016 T 0.107 T Pathogenic 12_11214324_C->T 12 11214324 11214324 C T snp 1588.77 0/1 99 248 168 80 0.32 exonic TAS2R46 AU synonymous SNV NM_176887 exon1 c.G570A p.L190L 0.0142 0.0069 Uncertain 12_11214326_G->C 12 11214326 11214326 G C snp 1492.77 0/1 99 250 174 76 0.3 exonic TAS2R46 AU nonsynonymous SNV NM_176887 exon1 c.C568G p.L190V 0.0143 0.0072 0.41 T 1 N -0.940 T 0.0 T 0.007 T Pathogenic 12_11214330_G->A 12 11214330 11214330 G A snp 1366.77 0/1 99 250 178 72 0.29 exonic TAS2R46 AU synonymous SNV NM_176887 exon1 c.C564T p.F188F 0.0142 0.0071 Uncertain 12_11214336_A->T 12 11214336 11214336 A T snp 1399.77 0/1 99 250 171 79 0.32 exonic TAS2R46 AU synonymous SNV NM_176887 exon1 c.T558A p.V186V 0.0143 0.0073 Uncertain 12_11214351_G->C 12 11214351 11214351 G C snp 1509.77 0/1 99 250 166 84 0.34 exonic TAS2R46 AU nonsynonymous SNV NM_176887 exon1 c.C543G p.I181M 0.0202 0.0178 0.29 T 1 N -1.066 T 0.003 T 0.007 T Pathogenic 12_11214360_C->A 12 11214360 11214360 C A snp 1526.77 0/1 99 250 169 81 0.32 exonic TAS2R46 AU synonymous SNV NM_176887 exon1 c.G534T p.T178T 0.0256 0.0247 Uncertain 12_11214363_T->C 12 11214363 11214363 T C snp 1603.77 0/1 99 249 165 84 0.34 exonic TAS2R46 AU synonymous SNV NM_176887 exon1 c.A531G p.T177T 0.0213 0.0236 Uncertain 12_11214368_T->C 12 11214368 11214368 T C snp 1478.77 0/1 99 249 166 83 0.33 exonic TAS2R46 AU nonsynonymous SNV NM_176887 exon1 c.A526G p.N176D 0.0214 0.0242 0.47 T 1 N -0.999 T 0.001 T 0.008 T Pathogenic 12_11214386_T->G 12 11214386 11214386 T G snp 1399.77 0/1 99 250 169 81 0.32 exonic TAS2R46 AU nonsynonymous SNV NM_176887 exon1 c.A508C p.S170R 0.2271 0.2658 0.1 T 1 N -1.025 T 0.002 T 0.005 T Pathogenic 12_11214392_G->A 12 11214392 11214392 G A snp 1422.77 0/1 99 249 169 80 0.32 exonic TAS2R46 AU synonymous SNV NM_176887 exon1 c.C502T p.L168L 0.2478 0.3087 Uncertain 12_11214437_T->C 12 11214437 11214437 T C snp 1384.77 0/1 99 248 175 73 0.29 exonic TAS2R46 AU nonsynonymous SNV NM_176887 exon1 c.A457G p.I153V 0.4464 0.4825 1 T 1 N -0.987 T 0.0 T 0.002 T Pathogenic 12_11214455_T->C 12 11214455 11214455 T C snp 1084.77 0/1 99 247 184 63 0.26 exonic TAS2R46 AU nonsynonymous SNV NM_176887 exon1 c.A439G p.I147V 0.4170 0.4730 0.52 T 1 N -0.933 T 0.0 T 0.004 T Pathogenic 12_11214472_A->G 12 11214472 11214472 A G snp 948.77 0/1 99 241 185 56 0.23 exonic TAS2R46 AU nonsynonymous SNV NM_176887 exon1 c.T422C p.V141A 0.3328 0.4191 0.36 T 1 N -1.008 T 0.003 T 0.012 T Pathogenic 12_11214495_T->C 12 11214495 11214495 T C snp 728.77 0/1 99 240 192 48 0.2 exonic TAS2R46 AU synonymous SNV NM_176887 exon1 c.A399G p.L133L 0.0139 0.0249 Uncertain 12_11214498_T->C 12 11214498 11214498 T C snp 655.77 0/1 99 234 193 41 0.18 exonic TAS2R46 AU nonsynonymous SNV NM_176887 exon1 c.A396G p.I132M 0.0111 0.0199 0.38 T 1 N -0.934 T 0.025 T 0.078 T Pathogenic 12_11214509_C->T 12 11214509 11214509 C T snp 274.77 0/1 99 204 177 27 0.13 exonic TAS2R46 AU nonsynonymous SNV NM_176887 exon1 c.G385A p.V129I 0.0092 0.0164 1 T 1 N -1.005 T 0.003 T 0.008 T Pathogenic 12_11214510_A->G 12 11214510 11214510 A G snp 245.77 0/1 99 201 175 26 0.13 exonic TAS2R46 AU synonymous SNV NM_176887 exon1 c.T384C p.V128V 0.0011 0.0007 Uncertain 12_11215029_C->T 12 11215029 11215029 C T snp 377.77 1/1 30 12 0 12 1.0 ncRNA_intronic PRH1-PRR4 AU 0.998203 1 Uncertain 12_11215033_G->T 12 11215033 11215033 G T snp 259.8 1/1 21 8 0 8 1.0 ncRNA_intronic PRH1-PRR4 AU 0.998203 1 Uncertain 12_11215038_G->A 12 11215038 11215038 G A snp 217.84 1/1 18 6 0 6 1.0 ncRNA_intronic PRH1-PRR4 AU 0.997804 0.998 Uncertain 12_11244027_T->C 12 11244027 11244027 T C snp 113.77 0/1 99 250 213 37 0.15 exonic TAS2R43 AU nonsynonymous SNV NM_176884 exon1 c.A802G p.R268G 0.0311 0.0066 1 T 1 N -1.026 T 0.0 T 0.001 T Pathogenic 12_11244036_T->G 12 11244036 11244036 T G snp 459.77 0/1 99 250 202 48 0.19 exonic TAS2R43 AU nonsynonymous SNV NM_176884 exon1 c.A793C p.K265Q 0.0254 0.0058 1 T 1 N -0.946 T 0.001 T 0.002 T Pathogenic 12_11244091_C->T 12 11244091 11244091 C T snp 975.77 0/1 99 250 182 68 0.27 exonic TAS2R43 AU nonsynonymous SNV NM_176884 exon1 c.G738A p.M246I 0.0030 0.0007 1 T 0.0 P -1.010 T 0.0 T 0.0 T Pathogenic 12_11244096_T->C 12 11244096 11244096 T C snp 1012.77 0/1 99 246 176 70 0.28 exonic TAS2R43 AU nonsynonymous SNV NM_176884 exon1 c.A733G p.I245V 0.0032 0.0007 0.44 T 0.0 P -0.924 T 0.0 T 0.004 T Pathogenic 12_11244097_G->A 12 11244097 11244097 G A snp 960.77 0/1 99 247 179 68 0.28 exonic TAS2R43 AU synonymous SNV NM_176884 exon1 c.C732T p.S244S 0.0032 0.0007 Uncertain 12_11244102_G->C 12 11244102 11244102 G C snp 903.77 0/1 99 250 182 68 0.27 exonic TAS2R43 AU nonsynonymous SNV NM_176884 exon1 c.C727G p.L243V 0.0098 0.0007 0.08 T 0.0 P -0.958 T 0.066 T 0.118 T Pathogenic 12_11244149_G->A 12 11244149 11244149 G A snp 839.77 0/1 99 249 193 56 0.22 exonic TAS2R43 AU nonsynonymous SNV NM_176884 exon1 c.C680T p.A227V 0.00758786 0.4286 0.4545 0.1 T 0.0 P -1.144 T 0.241 T 0.434 T Pathogenic 12_11244166_G->C 12 11244166 11244166 G C snp 6057.77 0/1 99 250 48 202 0.81 exonic TAS2R43 AU synonymous SNV NM_176884 exon1 c.C663G p.T221T 0.638778 0.9405 0.3446 0.4870 Uncertain 12_11244169_G->A 12 11244169 11244169 G A snp 625.77 0/1 99 250 206 44 0.18 exonic TAS2R43 AU synonymous SNV NM_176884 exon1 c.C660T p.S220S 0.4154 0.4513 Uncertain 12_11244190_A->G 12 11244190 11244190 A G snp 325.77 0/1 99 250 216 34 0.14 exonic TAS2R43 AU synonymous SNV NM_176884 exon1 c.T639C p.G213G 0.2537 0.2710 Uncertain 12_11244194_T->C 12 11244194 11244194 T C snp 6391.77 0/1 99 250 32 218 0.87 exonic TAS2R43 AU nonsynonymous SNV NM_176884 exon1 c.A635G p.H212R 0.621805 0.9425 0.4337 0.5649 0.07 T 0.0 P -1.079 T ID=CM144077;DIS=Coffee taste perception, association with;TAG=DP;PUB=24647340 DP Pathogenic 12_11244199_C->G 12 11244199 11244199 C G snp 95.77 0/1 99 250 223 27 0.11 exonic TAS2R43 AU nonsynonymous SNV NM_176884 exon1 c.G630C p.Q210H 0.0480 0.1263 0.06 T 1 N -0.965 T 0.032 T 0.151 T Pathogenic 12_11244602_T->C 12 11244602 11244602 T C snp 51.77 0/1 80 146 133 13 0.09 exonic TAS2R43 AU nonsynonymous SNV NM_176884 exon1 c.A227G p.N76S 0.0052 0.0084 0.27 T 1 N -1.003 T 0.0 T 0.007 T Pathogenic 12_11244603_T->A 12 11244603 11244603 T A snp 54.77 0/1 83 145 132 13 0.09 exonic TAS2R43 AU nonsynonymous SNV NM_176884 exon1 c.A226T p.N76Y 0.0644 0.0458 1 T 0.0 P -0.981 T 0.0 T 0.001 T Pathogenic 12_11244634_G->A 12 11244634 11244634 G A snp 134.77 0/1 99 114 99 15 0.13 exonic TAS2R43 AU synonymous SNV NM_176884 exon1 c.C195T p.N65N 0.2741 0.2058 Uncertain 12_11244646_T->C 12 11244646 11244646 T C snp 126.77 0/1 99 108 93 15 0.14 exonic TAS2R43 AU synonymous SNV NM_176884 exon1 c.A183G p.V61V 0.3415 0.2772 Uncertain 12_11244687_G->C 12 11244687 11244687 G C snp 181.77 0/1 99 136 114 22 0.16 exonic TAS2R43 AU nonsynonymous SNV NM_176884 exon1 c.C142G p.L48V 0.3032 0.2339 0.05 T 0.0 P -1.147 T 0.446 T 0.434 T Pathogenic 12_11244721_G->C 12 11244721 11244721 G C snp 60.77 0/1 89 169 152 17 0.1 exonic TAS2R43 AU nonsynonymous SNV NM_176884 exon1 c.C108G p.F36L 0.0072 0.0036 0.03 T 1.000 N -0.915 T 0.0 T 0.002 T Pathogenic 12_11244723_A->C 12 11244723 11244723 A C snp 38.77 0/1 67 177 160 17 0.1 exonic TAS2R43 AU nonsynonymous SNV NM_176884 exon1 c.T106G p.F36V 0.0061 0.0032 1 T 1.000 N -0.980 T 0.0 T 0.0 T Pathogenic 12_11244725_C->G 12 11244725 11244725 C G snp 4101.77 0/1 40 178 17 161 0.9 exonic TAS2R43 AU nonsynonymous SNV NM_176884 exon1 c.G104C p.W35S 0.621605 0.9425 0.6636 0.9177 0.01 T 0.740 P -1.010 T ID=CM078498;DIS=Aloin and saccharin taste sensitivity, association;TAG=DFP;PUB=17702579 DFP Pathogenic 12_11244793_C->T 12 11244793 11244793 C T snp 710.77 0/1 99 250 198 52 0.21 exonic TAS2R43 AU synonymous SNV NM_176884 exon1 c.G36A p.L12L 0.0055 0.0029 Uncertain 12_11244797_C->A 12 11244797 11244797 C A snp 712.77 0/1 99 249 196 53 0.21 exonic TAS2R43 AU nonsynonymous SNV NM_176884 exon1 c.G32T p.S11I 0.0055 0.0029 1 T 1 N -0.937 T 0.0 T 0.001 T Pathogenic 12_11244805_A->T 12 11244805 11244805 A T snp 739.77 0/1 99 250 197 53 0.21 exonic TAS2R43 AU synonymous SNV NM_176884 exon1 c.T24A p.I8I 0.0055 0.0030 Uncertain 12_11244814_T->C 12 11244814 11244814 T C snp 763.77 0/1 99 246 193 53 0.22 exonic TAS2R43 AU synonymous SNV NM_176884 exon1 c.A15G p.L5L 0.0058 0.0030 Uncertain 12_11244846_A->G 12 11244846 11244846 A G snp 760.77 0/1 99 205 155 50 0.24 ncRNA_intronic PRH1-PRR4 AU 0.0055 0.0041 Uncertain 12_11244849_T->A 12 11244849 11244849 T A snp 811.77 0/1 99 201 150 51 0.25 ncRNA_intronic PRH1-PRR4 AU 0.0055 0.0043 Uncertain 12_11244855_T->A 12 11244855 11244855 T A snp 778.77 0/1 99 187 137 50 0.27 ncRNA_intronic PRH1-PRR4 AU 0.0055 0.0041 Uncertain 12_11244871_G->A 12 11244871 11244871 G A snp 812.77 0/1 99 165 115 50 0.3 ncRNA_intronic PRH1-PRR4 AU 0.0049 0.0046 Uncertain 12_11244878_A->G 12 11244878 11244878 A G snp 839.77 0/1 99 146 96 50 0.34 ncRNA_intronic PRH1-PRR4 AU 0.0048 0.0048 Uncertain 12_11285818_T->C 12 11285818 11285818 T C snp 66.77 0/1 95 137 105 32 0.23 ncRNA_intronic PRH1-PRR4 AU Uncertain 12_11285824_T->C 12 11285824 11285824 T C snp 38.77 0/1 67 150 117 33 0.22 ncRNA_intronic PRH1-PRR4 AU Uncertain 12_11286164_G->A 12 11286164 11286164 G A snp 747.77 0/1 99 250 203 47 0.19 exonic TAS2R30 AU nonsynonymous SNV NM_001097643 exon1 c.C680T p.A227V 0.0009 0.0013 0.11 T 1 N -1.006 T 0.709 T 0.533 P Pathogenic 12_11286184_G->A 12 11286184 11286184 G A snp 1196.77 0/1 99 250 190 60 0.24 exonic TAS2R30 AU synonymous SNV NM_001097643 exon1 c.C660T p.S220S 0.004922 0.0204 0.0196 Uncertain 12_11286214_C->G 12 11286214 11286214 C G snp 1149.77 0/1 99 250 179 71 0.28 exonic TAS2R30 AU nonsynonymous SNV NM_001097643 exon1 c.G630C p.Q210H 0.0141 0.0721 0.02 T 1 N -0.952 T 0.049 T 0.16 T Pathogenic 12_11286249_T->C 12 11286249 11286249 T C snp 765.77 0/1 99 249 194 55 0.22 exonic TAS2R30 AU nonsynonymous SNV NM_001097643 exon1 c.A595G p.I199V 0.000399361 0.1138 0.2047 0.05 T 1 N -0.960 T 0.19 T 0.168 T Pathogenic 12_11286274_C->T 12 11286274 11286274 C T snp 421.77 0/1 99 250 209 41 0.16 exonic TAS2R30 AU synonymous SNV NM_001097643 exon1 c.G570A p.L190L 0.0006 0.0008 Uncertain 12_11286276_G->C 12 11286276 11286276 G C snp 432.77 0/1 99 250 210 40 0.16 exonic TAS2R30 AU nonsynonymous SNV NM_001097643 exon1 c.C568G p.L190V 0.0006 0.0007 0.32 T 1 N -0.948 T 0.002 T 0.029 T Pathogenic 12_11286280_G->A 12 11286280 11286280 G A snp 357.77 0/1 99 250 209 41 0.16 exonic TAS2R30 AU synonymous SNV NM_001097643 exon1 c.C564T p.L188L 0.0005 0.0008 Uncertain 12_11286282_G->A 12 11286282 11286282 G A snp 308.77 0/1 99 250 214 36 0.14 exonic TAS2R30 AU nonsynonymous SNV NM_001097643 exon1 c.C562T p.L188F 0.0005 0.0007 1 T 1 N -0.927 T 0.001 T 0.002 T Pathogenic 12_11286289_A->T 12 11286289 11286289 A T snp 213.77 0/1 99 250 216 34 0.14 exonic TAS2R30 AU nonsynonymous SNV NM_001097643 exon1 c.T555A p.F185L 0.0001 0 1 T 1 N -1.070 T 0.001 T 0.013 T Pathogenic 12_11286702_G->C 12 11286702 11286702 G C snp 624.77 0/1 99 200 149 51 0.26 exonic TAS2R30 AU nonsynonymous SNV NM_001097643 exon1 c.C142G p.L48V 4.972e-05 0.0002 0.05 T 1 N -1.073 T 0.848 T 0.764 P Pathogenic 12_11286713_A->G 12 11286713 11286713 A G snp 773.77 0/1 99 217 153 64 0.29 exonic TAS2R30 AU nonsynonymous SNV NM_001097643 exon1 c.T131C p.V44A 0.000199681 1.657e-05 0 1 T 1 N -1.008 T 0.001 T 0.002 T Pathogenic 12_11286736_G->C 12 11286736 11286736 G C snp 1150.77 0/1 99 250 154 96 0.38 exonic TAS2R30 AU synonymous SNV NM_001097643 exon1 c.C108G p.V36V 0.0006 0.0005 Uncertain 12_11286745_A->G 12 11286745 11286745 A G snp 1139.77 0/1 99 250 153 97 0.39 exonic TAS2R30 AU synonymous SNV NM_001097643 exon1 c.T99C p.I33I 0.0006 0.0003 Uncertain 12_11286746_A->G 12 11286746 11286746 A G snp 1084.77 0/1 99 250 153 97 0.39 exonic TAS2R30 AU nonsynonymous SNV NM_001097643 exon1 c.T98C p.I33T 0.0006 0.0003 0.18 T 1.000 N -0.989 T 0.072 T 0.1 T Pathogenic 12_11286760_T->C 12 11286760 11286760 T C snp 1190.77 0/1 99 250 153 97 0.39 exonic TAS2R30 AU synonymous SNV NM_001097643 exon1 c.A84G p.A28A 0.0002 0.0001 Uncertain 12_11286797_A->G 12 11286797 11286797 A G snp 1226.77 0/1 99 249 153 96 0.39 exonic TAS2R30 AU nonsynonymous SNV NM_001097643 exon1 c.T47C p.I16T 0.0002 0.0002 0.41 T 1 N -1.027 T 0.0 T 0.001 T Pathogenic 12_11286807_T->C 12 11286807 11286807 T C snp 1224.77 0/1 99 249 155 94 0.38 exonic TAS2R30 AU nonsynonymous SNV NM_001097643 exon1 c.A37G p.I13V 0.0001 0.0002 0.99 T 1 N -0.984 T 0.0 T 0.001 T Pathogenic 12_11286820_A->T 12 11286820 11286820 A T snp 1189.77 0/1 99 246 158 88 0.36 exonic TAS2R30 AU synonymous SNV NM_001097643 exon1 c.T24A p.I8I 0.0002 0.0004 Uncertain 12_11338515_AA->- 12 11338515 11338516 AA - indel 149.9 1/1 14 8 1 7 0.88 downstream rs199861447 TAS2R42 AU Uncertain 12_11338539_C->A 12 11338539 11338539 C A snp 1922.77 1/1 99 55 0 55 1.0 downstream rs1650016 TAS2R42 AU 0.761382 0.9514 Uncertain 12_11338555_A->T 12 11338555 11338555 A T snp 2832.77 1/1 99 84 0 84 1.0 downstream rs1669409 TAS2R42 AU 0.760783 0.9514 0.705156 0.8202 0.9616 Uncertain 12_11338613_C->G 12 11338613 11338613 C G snp 4988.77 1/1 99 171 0 171 1.0 exonic rs1650017 TAS2R42 AU nonsynonymous SNV NM_181429 exon1 c.G931C p.A311P 0.760783 0.9514 0.662540 0.8372 0.9652 1 T 0.0 P -1.007 T 0.0 T 0.0 T Pathogenic 12_11338614_A->G 12 11338614 11338614 A G snp 4951.77 1/1 99 171 0 171 1.0 exonic rs1669411 TAS2R42 AU synonymous SNV NM_181429 exon1 c.T930C p.N310N 0.760783 0.9514 0.662310 0.8371 0.9652 Uncertain 12_11338781_C->A 12 11338781 11338781 C A snp 4844.77 1/1 99 170 0 170 1.0 exonic rs1669413 TAS2R42 AU nonsynonymous SNV NM_181429 exon1 c.G763T p.G255W 0.760783 0.9514 0.713671 0.8380 0.9661 0.55 T 0.0 P -0.981 T 0.0 T 0.0 T Pathogenic 12_11338957_A->G 12 11338957 11338957 A G snp 2063.77 1/1 99 71 0 71 1.0 exonic rs5020531 TAS2R42 AU nonsynonymous SNV NM_181429 exon1 c.T587C p.F196S 0.540735 0.7569 0.469737 0.6022 0.7533 1 T 0.0 P -0.957 T 0.0 T 0.0 T ID=CM154068;DIS=Increased thyroid hormone levels, association with;TAG=FP;PUB=25342133 FP Pathogenic 12_11338983_T->C 12 11338983 11338983 T C snp 1650.77 1/1 99 57 0 57 1.0 exonic rs1650019 TAS2R42 AU synonymous SNV NM_181429 exon1 c.A561G p.L187L 0.760783 0.9514 0.714297 0.8395 0.9660 Uncertain 12_11339020_T->A 12 11339020 11339020 T A snp 1721.77 1/1 99 58 0 58 1.0 exonic rs35969491 TAS2R42 AU nonsynonymous SNV NM_181429 exon1 c.A524T p.Y175F 0.540735 0.7569 0.467170 0.6024 0.7531 0.07 T 0.0 P -0.976 T 0.997 D 0.978 D Pathogenic 12_11418954_A->G 12 11418954 11418954 A G snp 1403.77 1/1 99 43 0 43 1.0 UTR3 rs1896551 PRB3 AU 0.803714 0.6984 0.8854 0.735 Uncertain 12_11420334_G->- 12 11420334 11420334 G - indel 368.74 1/1 30 15 0 15 1.0 splicing rs3842295 PRB3 AU NM_006249 exon2 c.206+3delG 0.824081 0.6974 0.9127 0.6795 Pathogenic 12_11421093_-->GGG 12 11421093 11421093 - GGG indel 4999.73 1/1 99 88 0 88 1.0 intronic rs386375614 PRB3 AU NM_006249 exon3 c.957+11insGGG 0.8495 0.5606 Uncertain 12_11461292_C->G 12 11461292 11461292 C G snp 1684.77 1/1 99 61 0 61 1.0 exonic rs1052808 PRB4 AU nonsynonymous SNV NM_002723 exon3 c.G625C p.A209P 0.754992 0.8075 0.776565 0.8033 0.8032 0.95 T 0.0 P -1.034 T 0.0 T 0.0 T Pathogenic 12_11461470_A->G 12 11461470 11461470 A G snp 1932.77 1/1 99 71 0 71 1.0 exonic rs1052807 PRB4 AU synonymous SNV NM_002723 exon3 c.T447C p.G149G 0.755391 0.8095 0.779471 0.8079 0.8133 Uncertain 12_11461549_G->C 12 11461549 11461549 G C snp 70.77 0/1 99 59 50 9 0.15 exonic rs11054243 PRB4 AU nonsynonymous SNV NM_002723 exon3 c.C368G p.P123R 6.523e-05 0 0.34 T 1 N -0.963 T 0.004 T 0.002 T Pathogenic 12_11461553_T->C 12 11461553 11461553 T C snp 84.77 0/1 99 58 48 10 0.17 exonic rs11054244 PRB4 AU nonsynonymous SNV NM_002723 exon3 c.A364G p.R122G 0.00459265 0.001 0.0001 0 1 T 0.0 P -0.950 T 0.0 T 0.0 T Pathogenic 12_11461570_G->T 12 11461570 11461570 G T snp 487.77 0/1 99 53 28 25 0.47 exonic rs59189129 PRB4 AU nonsynonymous SNV NM_002723 exon3 c.C347A p.P116H 0.2827 0.3723 0.22 T 0.0 P -0.866 T 0.985 D 0.499 D Pathogenic 12_11461580_T->G 12 11461580 11461580 T G snp 500.77 0/1 99 45 11 34 0.76 exonic rs12303607 PRB4 AU nonsynonymous SNV NM_002723 exon3 c.A337C p.T113P 0.00219649 0.003 0.1997 0.2562 1 T 0.0 P -0.950 T 0.0 T 0.0 T Pathogenic 12_11461583_C->G 12 11461583 11461583 C G snp 143.77 0/1 99 43 28 15 0.35 exonic rs757874200 PRB4 AU nonsynonymous SNV NM_002723 exon3 c.G334C p.G112R 1.98e-05 0 0.09 T 1 N -1.044 T 0.998 D 0.887 D Pathogenic 12_11461584_T->G 12 11461584 11461584 T G snp 141.77 0/1 99 42 27 15 0.36 exonic PRB4 AU nonsynonymous SNV NM_002723 exon3 c.A333C p.Q111H 0.1 T 1 N -1.022 T 0.96 D 0.448 D Pathogenic 12_11461596_T->G 12 11461596 11461596 T G snp 270.77 0/1 99 32 11 21 0.66 exonic rs59021567 PRB4 AU synonymous SNV NM_002723 exon3 c.A321C p.G107G 0.0190 0.0335 Uncertain 12_11461836_T->C 12 11461836 11461836 T C snp 2527.77 1/1 99 97 0 97 1.0 intronic rs6488386 PRB4 AU NM_001261399 exon3 c.644+20T>C 0.89976 0.9296 0.8972 0.9267 Uncertain 12_11462002_C->A 12 11462002 11462002 C A snp 48.74 1/1 6 2 0 2 1.0 intronic rs6488387 PRB4 AU NM_001261399 exon3 c.644+186C>A 0.760783 0.8095 Uncertain 12_11462275_A->G 12 11462275 11462275 A G snp 5124.77 1/1 99 183 0 183 1.0 intronic rs1834857 PRB4 AU NM_001261399 exon4 c.1131-28A>G 0.776358 0.8224 0.800861 0.8275 0.8255 Uncertain 12_11506211_A->C 12 11506211 11506211 A C snp 423.77 0/1 99 34 14 20 0.59 exonic rs76504934 PRB1 AU unknown 0.455272 0.4355 0.557510 0.5946 0.4380 0.32 T 0.0 P -1.091 T 0.147 T 0.02 T Uncertain 12_11506281_T->C 12 11506281 11506281 T C snp 67.77 0/1 92 8 3 5 0.63 exonic rs61930108 PRB1 AU unknown 0.226837 0.4216 0.117020 0.0339 0.1139 Uncertain 12_11506893_C->T 12 11506893 11506893 C T snp 1468.77 1/1 99 59 0 59 1.0 exonic rs10845341 PRB1 AU unknown 0.688299 0.8224 0.727287 0.7454 0.7970 Uncertain 12_11507074_A->C 12 11507074 11507074 A C snp 54.74 1/1 6 2 0 2 1.0 intronic rs10459058 PRB1 AU NM_199354 exon3 c.896+138A>C 0.691094 0.8333 Uncertain 12_11507267_A->G 12 11507267 11507267 A G snp 447.77 0/1 99 25 9 16 0.64 intronic rs2272509 PRB1 AU NM_199354 exon4 c.1412-185A>G 0.467452 0.4355 Uncertain 12_11547493_C->A 12 11547493 11547493 C A snp 1972.77 0/1 99 248 161 87 0.35 intronic rs2416788 PRB2 AU NM_006248 exon3 c.1704+29C>A 0.208267 0.0933 0.177841 0.0899 0.0897 Uncertain 12_11547532_A->G 12 11547532 11547532 A G snp 1543.77 0/1 99 204 135 69 0.34 intronic rs2900174 PRB2 AU NM_006248 exon3 c.1704+68A>G 0.157149 0.0933 0.120894 Uncertain 12_11548436_A->G 12 11548436 11548436 A G snp 2059.77 0/1 99 250 165 85 0.34 exonic rs2272511 PRB2 AU synonymous SNV NM_006248 exon1 c.T28C p.L10L 0.208267 0.0933 0.178000 0.0899 0.0898 Uncertain 12_11803220_A->C 12 11803220 11803220 A C snp 227.84 1/1 18 7 0 7 1.0 intronic rs2856305 ETV6 AU,AD NM_001987 exon1 c.33+126A>C 0.971645 1 Uncertain 12_11803228_A->G 12 11803228 11803228 A G snp 219.84 1/1 18 7 0 7 1.0 intronic rs2541135 ETV6 AU,AD NM_001987 exon1 c.33+134A>G 0.971645 1 Uncertain 12_11904752_T->C 12 11904752 11904752 T C snp 397.77 0/1 99 88 65 23 0.26 intronic rs2856338 ETV6 AU,AD NM_001987 exon2 c.102322-631T>C 0.445887 0.4802 0.428247 0.3858 0.4368 Uncertain 12_11904767_C->T 12 11904767 11904767 C T snp 473.77 0/1 99 96 72 24 0.25 intronic rs10845410 ETV6 AU,AD NM_001987 exon2 c.102322-616C>T 0.288339 0.4038 0.288133 0.3224 0.3817 Uncertain 12_11904770_A->T 12 11904770 11904770 A T snp 478.77 0/1 99 94 70 24 0.26 intronic rs2724599 ETV6 AU,AD NM_001987 exon2 c.102322-613A>T 0.460064 0.4802 0.439616 0.3922 0.4392 Uncertain 12_12006544_G->A 12 12006544 12006544 G A snp 1304.77 0/1 99 83 29 54 0.65 intronic rs17210957 ETV6 AU,AD NM_001987 exon4 c.203434+49G>A 0.217252 0.3968 0.162848 0.1708 0.4041 Uncertain 12_12037318_C->G 12 12037318 12037318 C G snp 94.77 0/1 99 20 13 7 0.35 intronic rs10845417 ETV6 AU,AD NM_001987 exon6 c.234317-60C>G 0.255591 0.3085 Uncertain 12_12230938_C->G 12 12230938 12230938 C G snp 2035.77 1/1 99 68 0 68 1.0 intronic rs1641721 BCL2L14 AU 0.746206 0.7371 0.7147 0.6684 Uncertain 12_12265119_A->- 12 12265119 12265119 A - indel 145.8 1/1 18 9 0 9 1.0 intergenic rs55833207 BCL2L14 AU 0.994609 1 Uncertain 12_12278468_A->T 12 12278468 12278468 A T snp 141.03 1/1 12 4 0 4 1.0 intronic rs2302684 LRP6 AD NM_002336 exon3 c.4307+102A>T 0.517173 0.7937 Uncertain 12_12301898_C->T 12 12301898 12301898 C T snp 1481.77 1/1 99 52 0 52 1.0 exonic rs2302685 LRP6 AD nonsynonymous SNV NM_002336 exon14 c.G3184A p.V1062I 0.885583 0.9196 0.839997 0.8474 0.9296 1 T 0.002 P -0.936 T 0.0 T 0.0 T ID=CM073185;DIS=Fragility fractures, increased risk, association with;TAG=DFP;PUB=16355283 DFP Pathogenic 12_12397668_T->A 12 12397668 12397668 T A snp 203.82 0/1 19 7 1 6 0.86 intronic rs10219768 LRP6 AD NM_002336 exon22 c.123530+79T>A 0.808107 0.8323 Uncertain 12_12397670_A->T 12 12397670 12397670 A T snp 199.9 0/1 15 7 1 6 0.86 intronic rs10219748 LRP6 AD NM_002336 exon22 c.123530+81A>T 0.808107 0.8323 Uncertain 12_12419525_T->C 12 12419525 12419525 T C snp 289.77 0/1 99 25 15 10 0.4 intronic rs60730865 LRP6 AD NM_002336 exon23 c.145555-89T>C 0.129193 0.0476 Uncertain 12_12482820_C->A 12 12482820 12482820 C A snp 34.77 0/1 31 3 1 2 0.67 UTR3 rs118108016 MANSC1 AU 0.0934505 0.1071 Uncertain 12_12482877_CTG->- 12 12482877 12482879 CTG - indel 335.73 0/1 99 17 10 7 0.41 UTR3 rs113872597 MANSC1 AU 0.0954473 0.1071 Uncertain 12_12483275_G->A 12 12483275 12483275 G A snp 1162.77 0/1 99 140 84 56 0.4 exonic rs1861676 MANSC1 AU synonymous SNV NM_018050 exon4 c.C982T p.L328L 0.597244 0.38 0.695525 0.6867 0.3732 Uncertain 12_12483713_A->G 12 12483713 12483713 A G snp 2699.77 0/1 99 226 112 114 0.5 exonic rs4763282 MANSC1 AU synonymous SNV NM_018050 exon4 c.T544C p.L182L 0.581869 0.375 0.677072 0.6833 0.3708 Uncertain 12_12483927_G->A 12 12483927 12483927 G A snp 2222.77 1/1 99 75 1 74 0.99 intronic rs4763818 MANSC1 AU NM_018050 exon1 c.932+35G>A 0.79373 0.6696 0.899215 0.9099 0.6673 Uncertain 12_12495959_C->T 12 12495959 12495959 C T snp 149.77 0/1 99 9 4 5 0.56 intronic rs3741800 MANSC1 AU NM_018050 exon3 c.13065-66C>T 0.355232 0.2738 Uncertain 12_12496086_C->T 12 12496086 12496086 C T snp 1546.77 0/1 99 155 86 69 0.45 exonic rs3741798 MANSC1 AU nonsynonymous SNV NM_018050 exon2 c.G163A p.V55I 0.0800719 0.0764 0.108258 0.0971 0.0907 1 T 0.000 P -0.990 T 0.0 T 0.001 T Pathogenic 12_12510097_C->T 12 12510097 12510097 C T snp 460.77 0/1 99 26 10 16 0.62 UTR5 rs10772552 LOH12CR1 AU 0.364417 0.2748 0.5681 0.2955 Uncertain 12_12618427_C->T 12 12618427 12618427 C T snp 2911.77 1/1 99 97 0 97 1.0 intronic rs3751261 LOH12CR1 AU NM_058169 exon4 c.108094-52C>T 0.452875 0.7232 Uncertain 12_12618715_T->C 12 12618715 12618715 T C snp 1911.77 1/1 99 55 0 55 1.0 UTR3 rs967648 LOH12CR1 AU 0.942891 1 0.946456 0.9859 1 Uncertain 12_12630666_GCACGCTGG->- 12 12630666 12630674 GCACGCTGG - indel 7939.73 1/1 99 127 1 126 0.99 exonic rs142947418 DUSP16 AU nonframeshift deletion NM_030640 exon7 c.1091_1099del p.364_367del 0.109026 0.13 0.080403 0.0556 0.1402 ID=COSM1163657;OCCURENCE=1(pancreas) Uncertain 12_12630676_C->T 12 12630676 12630676 C T snp 622.77 0/1 99 114 80 34 0.3 exonic rs3055727 DUSP16 AU synonymous SNV NM_030640 exon7 c.G1089A p.V363V 1.855e-05 0 Uncertain 12_12630685_C->T 12 12630685 12630685 C T snp 2505.77 1/1 99 85 0 85 1.0 exonic rs2111269 DUSP16 AU synonymous SNV NM_030640 exon7 c.G1080A p.V360V 4.833e-05 0.0008 Uncertain 12_12633287_A->G 12 12633287 12633287 A G snp 4679.77 1/1 99 161 0 161 1.0 intronic rs10845555 DUSP16 AU NM_030640 exon2 c.3514+7A>G 0.188898 0.4097 0.044595 0.1009 0.4086 Uncertain 12_12639809_C->T 12 12639809 12639809 C T snp 135.03 1/1 12 4 0 4 1.0 intronic rs4763833 DUSP16 AU NM_030640 exon3 c.10195-152C>T 0.545927 0.7093 Uncertain 12_12790737_G->A 12 12790737 12790737 G A snp 506.77 0/1 99 35 16 19 0.54 intronic rs10845599 CREBL2 AU NM_001310 exon3 c.25542+89G>A 0.359625 0.4216 Uncertain 12_12814818_C->T 12 12814818 12814818 C T snp 3582.77 1/1 99 123 0 123 1.0 exonic rs4763862 GPR19 AU nonsynonymous SNV NM_006143 exon4 c.G565A p.V189I 0.88778 0.997 0.869676 0.9279 0.9901 1 T 0.000 P -0.910 T 0.0 T 0.001 T Pathogenic 12_12878764_G->A 12 12878764 12878764 G A snp 452.77 0/1 99 37 16 21 0.57 upstream rs556101140 APOLD1 AU 0.00199681 0.0099 Uncertain 12_12879057_G->A 12 12879057 12879057 G A snp 502.77 0/1 99 28 10 18 0.64 intronic rs34323 APOLD1 AU NM_001130415 exon1 c.96+27G>A 0.616613 0.5813 0.617608 0.5891 0.5676 Uncertain 12_12879254_T->G 12 12879254 12879254 T G snp 473.77 0/1 99 54 32 22 0.41 intronic rs7956514 APOLD1 AU NM_001130415 exon1 c.96+224T>G 0.233427 0.4444 0.2678 0.4420 Uncertain 12_12938793_G->A 12 12938793 12938793 G A snp 291.77 0/1 99 23 13 10 0.43 intronic rs7297140 APOLD1 AU NM_030817 exon1 c.3+165G>A 0.196086 0.1429 Uncertain 12_12966967_A->G 12 12966967 12966967 A G snp 1284.77 0/1 99 97 53 44 0.45 intronic rs7978823 DDX47 AU NM_016355 exon2 c.763-97A>G 0.340855 0.2361 Uncertain 12_12967127_C->T 12 12967127 12967127 C T snp 2218.77 0/1 99 210 112 98 0.47 exonic rs1051374 DDX47 AU synonymous SNV NM_016355 exon2 c.C150T p.I50I 0.386781 0.5992 0.273028 0.3364 0.5657 Uncertain 12_12967264_C->G 12 12967264 12967264 C G snp 251.77 0/1 99 18 9 9 0.5 intronic rs3741826 DDX47 AU NM_016355 exon2 c.857+106C>G 0.385982 0.5992 Uncertain 12_12977400_G->A 12 12977400 12977400 G A snp 497.77 0/1 99 39 19 20 0.51 intronic rs1010878 DDX47 AU NM_016355 exon9 c.11172-73G>A 0.187101 0.1776 Uncertain 12_12980326_T->A 12 12980326 12980326 T A snp 2876.77 0/1 99 234 115 119 0.51 intronic rs12306594 DDX47 AU NM_016355 exon11 c.14008+17T>A 0.209065 0.2401 0.166077 0.1186 0.2431 Uncertain 12_13028653_A->G 12 13028653 13028653 A G snp 660.77 0/1 99 79 48 31 0.39 ncRNA_exonic rs10845659 RPL13AP20 AU 0.824281 0.9286 0.8463 0.9151 Uncertain 12_13101454_G->T 12 13101454 13101454 G T snp 724.77 0/1 99 55 29 26 0.47 intronic rs7294444 GPRC5D AU NM_018654 exon3 c.8715-969G>T 0.382987 0.375 Uncertain 12_13136623_T->C 12 13136623 13136623 T C snp 6878.77 1/1 99 250 0 250 1.0 ncRNA_exonic rs735689 LOC100506314 AU 0.429712 0.3899 0.5703 0.3864 Uncertain 12_13142174_C->G 12 13142174 13142174 C G snp 761.77 1/1 57 25 0 25 1.0 intronic rs850918 HEBP1 AU NM_015987 exon3 c.13969-36C>G 0.742612 0.9792 0.704060 0.8440 0.9873 Uncertain 12_13153773_T->C 12 13153773 13153773 T C snp 668.77 1/1 51 19 0 19 1.0 ncRNA_exonic rs1291364 HTR7P1 AU 0.715056 0.6786 Uncertain 12_13154077_C->T 12 13154077 13154077 C T snp 172.77 0/1 99 22 12 10 0.45 ncRNA_exonic rs67498669 HTR7P1 AU 0.320887 0.2183 Uncertain 12_13154105_A->T 12 13154105 13154105 A T snp 182.77 0/1 99 21 12 9 0.43 ncRNA_exonic rs9919709 HTR7P1 AU 0.403355 0.2212 Uncertain 12_13154123_G->C 12 13154123 13154123 G C snp 188.77 0/1 99 19 10 9 0.47 ncRNA_exonic rs61912779 HTR7P1 AU 0.398363 0.2183 Uncertain 12_13154146_C->T 12 13154146 13154146 C T snp 162.77 0/1 99 14 5 9 0.64 ncRNA_exonic rs188660901 HTR7P1 AU 0.0179712 0.0774 Uncertain 12_13154583_G->- 12 13154583 13154583 G - indel 2420.73 1/1 99 65 0 65 1.0 ncRNA_exonic rs398076428 HTR7P1 AU 0.485823 0.378 Uncertain 12_13154790_G->C 12 13154790 13154790 G C snp 6591.77 1/1 99 244 0 244 1.0 ncRNA_exonic rs1291363 HTR7P1 AU 0.429513 0.378 Uncertain 12_13154911_A->G 12 13154911 13154911 A G snp 7275.77 1/1 99 249 0 249 1.0 ncRNA_exonic rs1291362 HTR7P1 AU 0.583666 0.5367 Uncertain 12_13155166_G->T 12 13155166 13155166 G T snp 7206.77 1/1 99 240 0 240 1.0 ncRNA_exonic rs1291361 HTR7P1 AU 0.405351 0.376 Uncertain 12_13208552_C->T 12 13208552 13208552 C T snp 1628.77 0/1 99 121 57 64 0.53 exonic rs4763924 KIAA1467 AU synonymous SNV NM_020853 exon2 c.C105T p.D35D 0.327875 0.4901 0.213748 0.2390 0.5199 Uncertain 12_13211212_G->A 12 13211212 13211212 G A snp 786.77 1/1 60 20 0 20 1.0 intronic rs6488582 KIAA1467 AU NM_020853 exon3 c.14047-172G>A 0.985224 0.999 Uncertain 12_13211471_G->A 12 13211471 13211471 G A snp 891.77 0/1 99 89 50 39 0.44 exonic rs117039796 KIAA1467 AU nonsynonymous SNV NM_020853 exon3 c.G520A p.G174R 0.0215655 0.0407 0.013071 0.0215 0.0535 0.35 T 0.781 N -1.010 T 0.925 T 0.227 D Pathogenic 12_13211496_T->- 12 13211496 13211496 T - indel 687.73 0/1 99 61 27 34 0.56 intronic rs76117339 KIAA1467 AU NM_020853 exon3 c.14146+13delT 0.328275 0.4901 0.215815 0.2393 0.5208 Uncertain 12_13214537_A->G 12 13214537 13214537 A G snp 888.77 0/1 99 55 21 34 0.62 exonic rs3741818 KIAA1467 AU synonymous SNV NM_020853 exon4 c.A561G p.V187V 0.63139 0.502 0.744964 0.7503 0.4800 Uncertain 12_13214791_G->A 12 13214791 13214791 G A snp 614.77 0/1 99 62 39 23 0.37 intronic rs3741817 KIAA1467 AU NM_020853 exon4 c.17360+94G>A 0.328275 0.4911 Uncertain 12_13215616_T->C 12 13215616 13215616 T C snp 54.74 1/1 6 2 0 2 1.0 intronic rs11055220 KIAA1467 AU NM_020853 exon5 c.18441-162T>C 0.328075 0.4911 Uncertain 12_13215685_C->A 12 13215685 13215685 C A snp 564.77 1/1 42 18 0 18 1.0 intronic rs2200498 KIAA1467 AU NM_020853 exon5 c.18441-93C>A 0.984625 0.999 Uncertain 12_13219556_C->G 12 13219556 13219556 C G snp 1090.77 0/1 99 74 30 44 0.59 intronic rs3803096 KIAA1467 AU NM_020853 exon6 c.22236-17C>G 0.132188 0.2123 0.102107 0.1414 0.2049 Uncertain 12_13221606_T->C 12 13221606 13221606 T C snp 3996.77 1/1 99 151 0 151 1.0 exonic rs1386005 KIAA1467 AU synonymous SNV NM_020853 exon9 c.T1329C p.D443D 0.984425 0.999 0.981086 0.9948 1 Uncertain 12_13221779_T->C 12 13221779 13221779 T C snp 115.77 0/1 99 8 3 5 0.63 intronic rs12424184 KIAA1467 AU NM_020853 exon9 c.24308+134T>C 0.33107 0.4911 Uncertain 12_13224027_C->T 12 13224027 13224027 C T snp 78.77 0/1 65 5 2 3 0.6 intronic rs3825270 KIAA1467 AU NM_020853 exon10 c.26837-147C>T 0.355032 0.5327 Uncertain 12_13228761_A->T 12 13228761 13228761 A T snp 132.77 0/1 99 18 12 6 0.33 intronic rs874041 KIAA1467 AU NM_020853 exon11 c.31622-198A>T 0.460863 0.246 Uncertain 12_13232684_G->A 12 13232684 13232684 G A snp 979.77 0/1 99 59 27 32 0.54 intronic rs146549037 KIAA1467 AU NM_020853 exon12 c.35385-38G>A 0.000798722 0.004 0.0006 0.0088 Uncertain 12_13242371_G->A 12 13242371 13242371 G A snp 46.77 0/1 33 3 1 2 0.67 intronic rs3736208 GSG1 AU NM_001080555 exon5 c.4376+161G>A 0.395767 0.2431 Uncertain 12_13243647_A->G 12 13243647 13243647 A G snp 2955.77 0/1 99 249 137 112 0.45 exonic rs2306765 GSG1 AU nonsynonymous SNV NM_001080554 exon2 c.T154C p.F52L 0.0644968 0.1468 0.010534 0.0431 0.1587 0.17 T 0.996 P -1.130 T 0.996 D 0.923 D Pathogenic 12_13256353_A->G 12 13256353 13256353 A G snp 3960.77 1/1 99 147 0 147 1.0 intronic rs10772620 GSG1 AU NM_001080555 exon7 c.18564-45A>G 0.536342 0.754 0.364878 0.3991 0.7703 Uncertain 12_13294280_C->A 12 13294280 13294280 C A snp 3169.77 1/1 99 114 0 114 1.0 intergenic rs7978768 GSG1 AU 0.977436 1 Uncertain 12_13294333_G->A 12 13294333 13294333 G A snp 2022.77 0/1 99 182 92 90 0.49 intergenic rs73298855 GSG1 AU 0.13119 0.254 Uncertain 12_13364197_A->G 12 13364197 13364197 A G snp 54.74 1/1 6 2 0 2 1.0 intronic rs4763946 EMP1 AU 0.423123 0.6419 Uncertain 12_13366599_C->T 12 13366599 13366599 C T snp 1611.77 0/1 99 141 80 61 0.43 intronic rs2277395 EMP1 AU NM_001423 exon4 c.2170-15C>T 0.100839 0.122 0.148162 0.1600 0.1444 Uncertain 12_13369196_C->T 12 13369196 13369196 C T snp 229.77 0/1 99 13 5 8 0.62 UTR3 rs8885 EMP1 AU 0.433307 0.5327 Uncertain 12_13527882_G->A 12 13527882 13527882 G A snp 2395.77 0/1 99 212 107 105 0.5 ncRNA_intronic rs12306769 LINC01559 AU 0.19389 0.2927 0.1632 0.3284 0 D 1.000 P -1.037 T Uncertain 12_13715975_A->G 12 13715975 13715975 A G snp 2040.77 0/1 99 211 123 88 0.42 exonic rs1805247 GRIN2B AU,AD synonymous SNV NM_000834 exon13 c.T4197C p.H1399H 0.217252 0.1835 0.166154 0.1376 0.1706 CLINSIG=untested|probable-non-pathogenic;CLNDBN=not_provided|not_specified;CLNREVSTAT=no_assertion_provided|no_assertion_criteria_provided;CLNACC=RCV000084723.1|RCV000117200.2;CLNDSDB=MedGen|MedGen;CLNDSDBID=CN221809|CN169374 Uncertain 12_13717508_G->A 12 13717508 13717508 G A snp 2297.77 0/1 99 178 90 88 0.49 exonic rs1806201 GRIN2B AU,AD synonymous SNV NM_000834 exon13 c.C2664T p.T888T 0.303315 0.5208 0.217823 0.3102 0.5179 CLINSIG=untested|probable-non-pathogenic;CLNDBN=not_provided|not_specified;CLNREVSTAT=no_assertion_provided|no_assertion_criteria_provided;CLNACC=RCV000084728.1|RCV000117194.2;CLNDSDB=MedGen|MedGen;CLNDSDBID=CN221809|CN169374 ID=CM074898;DIS=Huntington disease, earlier onset in females, association with;TAG=DP;PUB=17569088 DP Uncertain 12_13720272_A->G 12 13720272 13720272 A G snp 533.77 1/1 39 19 0 19 1.0 intronic rs4764010 GRIN2B AU,AD NM_000834 exon2 c.4481+75A>G 0.939497 1 Uncertain 12_13761741_G->A 12 13761741 13761741 G A snp 851.77 0/1 99 89 49 40 0.45 exonic rs1805522 GRIN2B AU,AD synonymous SNV NM_000834 exon9 c.C1806T p.I602I 0.0894569 0.1637 0.039213 0.0650 0.1562 CLINSIG=probable-non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=no_assertion_criteria_provided|criteria_provided\x2c_single_submitter;CLNACC=RCV000117192.2|RCV000125326.1;CLNDSDB=MedGen|MedGen;CLNDSDBID=CN169374|CN221809 Uncertain 12_13768298_G->A 12 13768298 13768298 G A snp 292.77 0/1 99 21 12 9 0.43 intronic rs1805486 GRIN2B AU,AD NM_000834 exon7 c.52485+97G>A 0.095647 0.1677 Uncertain 12_13768354_C->T 12 13768354 13768354 C T snp 2491.77 1/1 99 80 0 80 1.0 intronic rs1468845 GRIN2B AU,AD NM_000834 exon8 c.52710-72C>T 0.991813 1 Uncertain 12_13769664_T->C 12 13769664 13769664 T C snp 1396.77 1/1 99 48 0 48 1.0 intronic rs1805199 GRIN2B AU,AD NM_000834 exon9 c.53875+73T>C 0.788139 0.9921 Uncertain 12_14576743_A->G 12 14576743 14576743 A G snp 301.78 1/1 24 8 0 8 1.0 intronic rs4764087 ATF7IP AU NM_181352 exon2 c.38525-99A>G 0.997604 1 Uncertain 12_14578519_G->A 12 14578519 14578519 G A snp 339.78 1/1 27 9 0 9 1.0 intronic rs6488685 ATF7IP AU NM_018179 exon2 c.1558+112G>A 0.997604 1 Uncertain 12_14587301_A->G 12 14587301 14587301 A G snp 1630.77 1/1 99 64 0 64 1.0 exonic rs3213764 ATF7IP AU nonsynonymous SNV NM_001286514 exon3 c.A1586G p.K529R 0.439497 0.6181 0.422420 0.4714 0.6034 0.05 T 0.694 P -0.964 T 0.988 D 0.831 D Pathogenic 12_14590981_T->C 12 14590981 14590981 T C snp 186.9 1/1 15 9 0 9 1.0 intronic rs10734876 ATF7IP AU NM_018179 exon5 c.14214-82T>C 0.997604 1 Uncertain 12_14599904_-->T 12 14599904 14599904 - T indel 55.5 0/1 3 13 2 11 0.85 intronic rs397735482 ATF7IP AU NM_018179 exon6 c.23072-17insT 0.53135 0.5238 0.4991 0.4928 Uncertain 12_14628705_A->G 12 14628705 14628705 A G snp 548.77 1/1 42 20 0 20 1.0 intronic rs7298275 ATF7IP AU NM_018179 exon11 c.51974-118A>G 0.9998 1 Uncertain 12_14628773_C->T 12 14628773 14628773 C T snp 2149.77 1/1 99 72 0 72 1.0 intronic rs7313259 ATF7IP AU NM_018179 exon11 c.51974-50C>T 0.4373 0.6131 0.421486 0.4676 0.5972 Uncertain 12_14631111_T->C 12 14631111 14631111 T C snp 343.78 1/1 27 9 0 9 1.0 intronic rs2302886 ATF7IP AU NM_018179 exon12 c.54401-139T>C 0.46865 0.6151 Uncertain 12_14634392_-->AGTT 12 14634392 14634392 - AGTT indel 315.87 1/1 15 5 0 5 1.0 UTR3 rs10624410 ATF7IP AU 0.999601 1 Uncertain 12_14688644_C->T 12 14688644 14688644 C T snp 3285.77 1/1 99 111 0 111 1.0 exonic rs7957558 PLBD1 AU nonsynonymous SNV NM_024829 exon6 c.G793A p.V265I 0.885184 0.9861 0.881978 0.9546 0.9880 1 T 0.000 P -0.973 T 0.001 T 0.001 T Pathogenic 12_14694993_G->C 12 14694993 14694993 G C snp 267.8 1/1 21 7 0 7 1.0 intronic rs1862014 PLBD1 AU NM_024829 exon9 c.38436-148G>C 0.957468 1 Uncertain 12_14720366_C->T 12 14720366 14720366 C T snp 56.74 1/1 6 2 0 2 1.0 intronic rs10846023 PLBD1 AU NM_024829 exon11 c.63810-149C>T 0.699681 0.7768 Uncertain 12_14720555_GCA->- 12 14720555 14720557 GCA - indel 1955.73 1/1 99 48 0 48 1.0 exonic rs147342083 PLBD1 AU nonframeshift deletion NM_024829 exon1 c.74_76del p.25_26del 0.7943 0.8231 ID=COSM1171890;OCCURENCE=1(oesophagus) Uncertain 12_14720583_T->C 12 14720583 14720583 T C snp 1010.77 1/1 72 36 0 36 1.0 exonic rs7954623 PLBD1 AU synonymous SNV NM_024829 exon1 c.A48G p.P16P 0.923922 0.9861 0.9785 0.9769 Uncertain 12_14769468_G->A 12 14769468 14769468 G A snp 813.77 1/1 60 25 0 25 1.0 ncRNA_intronic rs1558795 PLBD1-AS1 AU 0.954473 0.9911 Uncertain 12_14774849_T->A 12 14774849 14774849 T A snp 1450.77 1/1 99 43 0 43 1.0 intronic rs7302418 GUCY2C AR,AD NM_004963 exon6 c.8888-89T>A 0.974641 1 Uncertain 12_14781503_A->T 12 14781503 14781503 A T snp 185.9 1/1 15 6 0 6 1.0 intronic rs4764105 GUCY2C AR,AD NM_004963 exon8 c.15529-76A>T 0.921526 0.9911 Uncertain 12_14792651_G->C 12 14792651 14792651 G C snp 341.78 1/1 27 9 0 9 1.0 intronic rs4764106 GUCY2C AR,AD NM_004963 exon9 c.26745-144G>C 0.551118 0.869 Uncertain 12_14793114_A->G 12 14793114 14793114 A G snp 133.03 1/1 12 5 0 5 1.0 intronic rs2111178 GUCY2C AR,AD NM_004963 exon9 c.26834+230A>G 0.981829 1 Uncertain 12_14794062_G->A 12 14794062 14794062 G A snp 2473.77 1/1 99 92 0 92 1.0 exonic rs10772800 GUCY2C AR,AD synonymous SNV NM_004963 exon18 c.C2022T p.I674I 0.823482 0.9911 0.819622 0.9411 0.9899 Uncertain 12_14804994_G->C 12 14804994 14804994 G C snp 1174.77 1/1 90 38 0 38 1.0 intronic rs7313027 GUCY2C AR,AD NM_004963 exon14 c.38914+30G>C 0.91274 1 0.910769 0.9753 1 Uncertain 12_14822855_G->A 12 14822855 14822855 G A snp 662.77 1/1 51 20 0 20 1.0 intronic rs7314345 GUCY2C AR,AD NM_004963 exon18 c.56717+88G>A 0.967452 0.9841 Uncertain 12_14827464_ATC->- 12 14827464 14827466 ATC - indel 13872.7 1/1 99 242 0 242 1.0 intronic rs3217157 GUCY2C AR,AD NM_004963 exon20 c.61508-94_61508-92delATC 0.736621 0.7341 0.8019 0.7290 Uncertain 12_14829893_A->C 12 14829893 14829893 A C snp 3270.77 1/1 99 139 0 139 1.0 exonic rs1420635 GUCY2C AR,AD nonsynonymous SNV NM_004963 exon7 c.T843G p.F281L 0.986222 1 0.987160 0.9962 1 0.31 T 0.001 P -1.005 T 0.011 T 0.015 T Pathogenic 12_14834422_A->- 12 14834422 14834422 A - indel 6154.73 1/1 99 191 0 191 1.0 intronic rs56944147 GUCY2C AR,AD NM_004963 exon23 c.68361+11delA 0.926118 0.9841 0.923562 0.9768 0.9839 Uncertain 12_14834427_G->T 12 14834427 14834427 G T snp 4684.77 1/1 99 171 4 167 0.98 intronic rs58911033 GUCY2C AR,AD NM_004963 exon23 c.68361+16G>T 0.926118 0.9841 0.907812 0.9769 0.9840 Uncertain 12_15034996_T->A 12 15034996 15034996 T A snp 1780.77 1/1 99 56 0 56 1.0 UTR3 rs2430735 MGP AR 0.996605 1 0.9987 1 Uncertain 12_15067511_-->GTGC 12 15067511 15067511 - GTGC indel 3044.73 ./1 99 48 0 48 1.0 UTR3 rs10699558 ERP27 AU 0.595048 0.8065 Uncertain 12_15067511_-->GTGTGC 12 15067511 15067511 - GTGTGC indel 3044.73 ./1 99 48 0 48 1.0 UTR3 rs10699558 ERP27 AU Uncertain 12_15073664_T->C 12 15073664 15073664 T C snp 99.28 1/1 9 3 0 3 1.0 intronic rs10772818 ERP27 AU NM_001300784 exon4 c.6197-201T>C 0.680911 0.8562 Uncertain 12_15073692_C->T 12 15073692 15073692 C T snp 182.9 1/1 15 5 0 5 1.0 intronic rs10772819 ERP27 AU NM_001300784 exon4 c.6197-173C>T 0.702077 0.8562 Uncertain 12_15073831_G->C 12 15073831 15073831 G C snp 2362.77 1/1 99 83 0 83 1.0 intronic rs2445382 ERP27 AU NM_001300784 exon4 c.6197-34G>C 0.680911 0.8562 0.618868 0.6569 0.8717 Uncertain 12_15081897_A->C 12 15081897 15081897 A C snp 5856.77 1/1 99 219 0 219 1.0 exonic rs2445371 ERP27 AU synonymous SNV NM_001300784 exon1 c.T12G p.T4T 0.998203 1 0.9999 1 Uncertain 12_15090762_G->C 12 15090762 15090762 G C snp 332.77 0/1 99 18 7 11 0.61 intronic rs3748296 ERP27 AU NM_152321 exon6 c.23217-123G>C 0.285743 0.125 Uncertain 12_15090837_A->G 12 15090837 15090837 A G snp 472.77 0/1 99 59 36 23 0.39 intronic rs3748297 ERP27 AU NM_152321 exon6 c.23217-48A>G 0.285743 0.125 0.358066 0.3334 0.1294 Uncertain 12_15091221_-->T 12 15091221 15091221 - T indel 6762.73 1/1 99 150 0 150 1.0 intronic rs11432737 ERP27 AU NM_152321 exon7 c.23680-127insT 0.962061 1 Uncertain 12_15095707_T->C 12 15095707 15095707 T C snp 180.77 0/1 99 27 17 10 0.37 intronic rs10772822 ARHGDIB AU NM_001175 exon1 c.200+52T>C 0.750799 0.7123 0.804868 0.8063 0.6877 Uncertain 12_15100683_C->T 12 15100683 15100683 C T snp 80.77 0/1 99 7 3 4 0.57 intronic rs2075265 ARHGDIB AU NM_001175 exon3 c.5351-123C>T 0.182508 0.128 Uncertain 12_15101072_T->G 12 15101072 15101072 T G snp 541.77 0/1 99 28 8 20 0.71 intronic rs4764142 ARHGDIB AU NM_001175 exon3 c.5428+189T>G 0.644569 0.5298 Uncertain 12_15103605_A->G 12 15103605 15103605 A G snp 2921.77 1/1 99 109 0 109 1.0 exonic rs2430711 ARHGDIB AU synonymous SNV NM_001175 exon2 c.T42C p.D14D 1 1 0.999923 1 1 0.000 P Uncertain 12_15131995_C->A 12 15131995 15131995 C A snp 146.77 0/1 99 10 5 5 0.5 intronic rs2233623 PDE6H AR,AD NM_006205 exon3 c.1166-117C>A 0.907548 0.8065 Uncertain 12_15273932_C->T 12 15273932 15273932 C T snp 2120.77 0/1 99 170 80 90 0.53 intronic rs2247574 RERG AU NM_032918 exon3 c.11953-64C>T 0.67512 0.6071 0.683311 Uncertain 12_15273957_A->G 12 15273957 15273957 A G snp 2567.77 0/1 99 214 102 112 0.52 intronic rs2247568 RERG AU NM_032918 exon3 c.11953-39A>G 0.665136 0.6081 0.672459 0.6811 0.5756 Uncertain 12_15652330_T->C 12 15652330 15652330 T C snp 855.77 1/1 63 25 0 25 1.0 intronic rs4764197 PTPRO AR NM_002848 exon4 c.176715-45T>C 0.940096 0.8423 0.959019 0.9605 0.8658 Uncertain 12_15656832_T->A 12 15656832 15656832 T A snp 1422.77 1/1 99 48 0 48 1.0 intronic rs4764199 PTPRO AR NM_002848 exon6 c.181181-9T>A 0.786342 0.626 0.851293 0.8496 0.6261 Uncertain 12_15661441_A->G 12 15661441 15661441 A G snp 173.77 0/1 99 22 14 8 0.36 intronic rs888163 PTPRO AR NM_002848 exon7 c.185844-63A>G 0.492013 0.1915 Uncertain 12_15699772_C->G 12 15699772 15699772 C G snp 267.8 1/1 21 7 0 7 1.0 intronic rs7301461 PTPRO AR NM_002848 exon13 c.223982+130C>G 0.337061 0.2708 Uncertain 12_15702007_C->T 12 15702007 15702007 C T snp 2794.77 1/1 99 98 0 98 1.0 intronic rs7132826 PTPRO AR NM_002848 exon14 c.226367-20C>T 0.30611 0.2698 0.303783 0.3060 0.2910 Uncertain 12_15704425_G->T 12 15704425 15704425 G T snp 3168.77 1/1 99 111 2 109 0.98 intronic rs1012674 PTPRO AR NM_002848 exon15 c.228824-59G>T 0.284744 0.2272 Uncertain 12_15710270_C->G 12 15710270 15710270 C G snp 1014.77 1/1 75 29 0 29 1.0 intronic rs10846209 PTPRO AR NM_002848 exon16 c.234728-118C>G 0.26258 0.2391 Uncertain 12_15722555_A->G 12 15722555 15722555 A G snp 1588.77 1/1 99 54 2 52 0.96 intronic rs10846212 PTPRO AR NM_002848 exon18 c.246772+123A>G 0.367212 0.2817 Uncertain 12_15731724_-->G 12 15731724 15731724 - G indel 6411.73 1/1 99 142 0 142 1.0 intronic rs5796639 PTPRO AR NM_002848 exon19 c.256126-62insG 0.992612 1 Uncertain 12_15733116_T->A 12 15733116 15733116 T A snp 1484.77 0/1 99 129 60 69 0.53 intronic rs10846214 PTPRO AR NM_002848 exon20 c.257389+67T>A 0.189696 0.256 Uncertain 12_15734800_G->A 12 15734800 15734800 G A snp 539.77 0/1 99 34 14 20 0.59 intronic rs2300289 PTPRO AR NM_002848 exon22 c.259075+65G>A 0.189097 0.251 Uncertain 12_15742314_A->- 12 15742314 15742314 A - indel 220.74 1/1 30 10 0 10 1.0 intronic rs34222753 PTPRO AR NM_002848 exon24 c.266728-74delA 0.595447 0.6726 Uncertain 12_15748020_C->T 12 15748020 15748020 C T snp 1500.77 1/1 99 53 0 53 1.0 intronic rs1558787 PTPRO AR NM_002848 exon25 c.272331+29C>T 0.798922 0.9524 0.796017 0.9414 0.9615 Uncertain 12_15776327_C->T 12 15776327 15776327 C T snp 32.77 0/1 61 5 3 2 0.4 intronic rs80122380 EPS8 AR NM_004447 exon2 c.1971+106C>T 0.014976 0.0327 Uncertain 12_15777486_T->C 12 15777486 15777486 T C snp 174.9 1/1 15 5 0 5 1.0 intronic rs4623959 EPS8 AR NM_004447 exon3 c.3091+145T>C 0.990216 0.999 Uncertain 12_15800074_G->A 12 15800074 15800074 G A snp 1189.77 0/1 99 120 71 49 0.41 exonic rs76688635 EPS8 AR nonsynonymous SNV NM_004447 exon15 c.C1555T p.R519C 0.0197684 0.0327 0.009073 0.0133 0.0283 0.05 T 0.990 D -0.993 T 0.738 T 0.276 P Pathogenic 12_15803904_A->G 12 15803904 15803904 A G snp 2147.77 0/1 99 184 95 89 0.48 exonic rs33956726 EPS8 AR synonymous SNV NM_004447 exon14 c.T1287C p.Y429Y 0.0297524 0.0327 0.023451 0.0175 0.0285 Uncertain 12_15803992_T->C 12 15803992 15803992 T C snp 1956.77 1/1 99 63 0 63 1.0 intronic rs4237955 EPS8 AR NM_004447 exon8 c.29690+52T>C 0.857827 0.9196 0.860836 0.9444 0.9235 Uncertain 12_15806924_A->G 12 15806924 15806924 A G snp 210.77 0/1 99 16 9 7 0.44 intronic rs34585787 EPS8 AR NM_004447 exon9 c.32828-154A>G 0.0301518 0.0327 Uncertain 12_15807367_T->C 12 15807367 15807367 T C snp 48.74 1/1 6 2 0 2 1.0 intronic rs4763427 EPS8 AR NM_004447 exon9 c.32977+140T>C 0.883586 0.9097 Uncertain 12_15814758_T->C 12 15814758 15814758 T C snp 50.74 1/1 6 2 0 2 1.0 intronic rs4763429 EPS8 AR NM_004447 exon13 c.40709-201T>C 0.752596 0.877 Uncertain 12_15814801_T->C 12 15814801 15814801 T C snp 186.77 0/1 99 13 7 6 0.46 intronic rs79316381 EPS8 AR NM_004447 exon13 c.40709-158T>C 0.0375399 0.0327 Uncertain 12_15818880_T->A 12 15818880 15818880 T A snp 464.77 0/1 99 33 15 18 0.55 intronic rs4363660 EPS8 AR NM_004447 exon14 c.44576+54T>A 0.747404 0.876 Uncertain 12_15822229_A->C 12 15822229 15822229 A C snp 1969.77 1/1 99 68 2 66 0.97 intronic rs4237957 EPS8 AR NM_004447 exon16 c.48070-91A>C 0.991214 1 Uncertain 12_15822244_T->C 12 15822244 15822244 T C snp 1189.77 0/1 99 91 44 47 0.52 intronic rs4237958 EPS8 AR NM_004447 exon16 c.48070-76T>C 0.832468 0.9653 Uncertain 12_16035779_T->C 12 16035779 16035779 T C snp 1491.77 0/1 99 118 55 63 0.53 intronic rs10846242 STRAP AU NM_007178 exon1 c.112+26T>C 0.0850639 0.0476 0.075657 0.0313 0.0587 Uncertain 12_16036261_C->G 12 16036261 16036261 C G snp 152.77 0/1 99 11 5 6 0.55 intronic rs10734889 STRAP AU NM_007178 exon2 c.833-213C>G 0.823482 0.9087 Uncertain 12_16043629_C->G 12 16043629 16043629 C G snp 204.77 0/1 99 24 16 8 0.33 intronic rs1471424 STRAP AU NM_007178 exon4 c.7962+26C>G 0.081869 0.0476 0.074385 0.0243 0.0495 Uncertain 12_16051020_-->TT 12 16051020 16051020 - TT indel 249.73 0/1 99 18 10 8 0.44 intronic rs111715004 STRAP AU NM_007178 exon7 c.15311+68insTT 0.107628 0.0476 Uncertain 12_16053725_T->- 12 16053725 16053725 T - indel 302.73 0/1 99 15 5 10 0.67 intronic rs58367055 STRAP AU NM_007178 exon9 c.18239-155delT 0.108826 0.0476 Uncertain 12_16055926_-->T 12 16055926 16055926 - T indel 1023.73 1/1 75 25 0 25 1.0 UTR3 rs71042275 STRAP AU 1 1 1 1 Uncertain 12_16185464_TT->- 12 16185464 16185465 TT - indel 961.73 0/1 99 49 25 24 0.49 intronic rs397780015 DERA AU NM_015954 exon7 c.121158-11_121158-10delTT 0.353634 0.2778 0.480550 0.5654 0.4073 Uncertain 12_16347063_T->C 12 16347063 16347063 T C snp 158.77 0/1 94 8 3 5 0.63 intronic rs2417543 SLC15A5 AU NM_001170798 exon2 c.4677-215T>C 0.569688 0.7024 Uncertain 12_16347308_G->A 12 16347308 16347308 G A snp 2459.77 0/1 99 204 101 103 0.5 exonic rs3942536 SLC15A5 AU synonymous SNV NM_001170798 exon8 c.C1563T p.N521N 0.569688 0.7024 0.469339 0.5638 0.6657 Uncertain 12_16369828_A->T 12 16369828 16369828 A T snp 3257.77 1/1 99 117 0 117 1.0 exonic rs1671511 SLC15A5 AU nonsynonymous SNV NM_001170798 exon7 c.T1482A p.D494E 0.995807 1 0.995401 0.9982 1 0.59 T 0.000 P -0.944 T Pathogenic 12_16392545_C->T 12 16392545 16392545 C T snp 403.77 0/1 99 24 10 14 0.58 intronic rs11056836 SLC15A5 AU NM_001170798 exon5 c.50013-69C>T 0.25639 0.4583 Uncertain 12_16397677_G->A 12 16397677 16397677 G A snp 2371.77 1/1 99 87 0 87 1.0 exonic rs1527014 SLC15A5 AU nonsynonymous SNV NM_001170798 exon4 c.C812T p.P271L 0.94369 0.9921 0.939991 0.9581 0.9824 0.67 T 0.0 P -1.028 T Pathogenic 12_16397734_C->A 12 16397734 16397734 C A snp 413.77 0/1 99 65 46 19 0.29 exonic rs1852450 SLC15A5 AU nonsynonymous SNV NM_001170798 exon4 c.G755T p.R252L 0.501997 0.5069 0.450285 0.5082 0.4324 0.02 T 0.845 P -1.035 T Pathogenic 12_16397746_C->T 12 16397746 16397746 C T snp 1553.77 1/1 99 62 0 62 1.0 intronic rs1852451 SLC15A5 AU NM_001170798 exon6 c.55133+12C>T 0.991214 1 0.993211 0.9975 1 Uncertain 12_16430284_G->A 12 16430284 16430284 G A snp 4994.77 1/1 99 179 0 179 1.0 exonic rs1671487 SLC15A5 AU synonymous SNV NM_001170798 exon1 c.C336T p.Y112Y 0.993411 1 0.991678 0.9970 1 Uncertain 12_16510395_T->G 12 16510395 16510395 T G snp 322.77 0/1 99 18 5 13 0.72 intronic rs2075239 MGST1 AU NM_020300 exon3 c.3352-143T>G 0.635184 0.4881 Uncertain 12_16510418_A->G 12 16510418 16510418 A G snp 392.77 0/1 99 25 9 16 0.64 intronic rs2075240 MGST1 AU NM_020300 exon3 c.3352-120A>G 0.145367 0.2034 Uncertain 12_16516994_G->A 12 16516994 16516994 G A snp 1261.77 0/1 99 85 38 47 0.55 UTR3 rs11875 MGST1 AU 0.0994409 0.2282 0.058973 0.0903 0.2371 Uncertain 12_16713487_-->T 12 16713487 16713487 - T indel 393.73 0/1 99 98 34 64 0.65 intronic rs3214385 LMO3 AU NM_018640 exon2 c.9317+15insT 0.303514 0.3244 0.3358 0.3327 Uncertain 12_16713545_T->C 12 16713545 16713545 T C snp 503.77 0/1 99 39 20 19 0.49 intronic rs2302690 LMO3 AU NM_018640 exon2 c.9317+73T>C 0.397564 0.3185 Uncertain 12_16743165_A->G 12 16743165 16743165 A G snp 146.03 1/1 12 6 0 6 1.0 intronic rs2058798 LMO3 AU NM_001243613 exon3 c.42915-3905A>G 0.851837 1 Uncertain 12_16743217_A->G 12 16743217 16743217 A G snp 56.74 1/1 6 2 0 2 1.0 intronic rs2058799 LMO3 AU NM_001243613 exon3 c.42915-3853A>G 0.495208 0.7073 Uncertain 12_17142520_C->T 12 17142520 17142520 C T snp 345.77 0/1 99 41 24 17 0.41 ncRNA_exonic rs35949588 SKP1P2 AU 0.305911 0.4266 0.3279 0.5507 Uncertain 12_17142546_T->C 12 17142546 17142546 T C snp 250.77 0/1 99 25 13 12 0.48 ncRNA_exonic rs7955087 SKP1P2 AU 0.621406 0.7698 0.5960 0.8139 Uncertain 12_18234422_C->A 12 18234422 18234422 C A snp 1250.77 0/1 99 92 47 45 0.49 intronic rs11043839 RERGL AU NM_024730 exon1 c.283+15C>A 0.284345 0.5238 0.186376 0.2501 0.5359 Uncertain 12_18234461_T->A 12 18234461 18234461 T A snp 257.77 0/1 99 20 10 10 0.5 intronic rs11043840 RERGL AU NM_024730 exon1 c.283+54T>A 0.402157 0.3661 Uncertain 12_18237688_C->A 12 18237688 18237688 C A snp 1020.77 0/1 99 52 21 31 0.6 intronic rs6486881 RERGL AU NM_024730 exon2 c.3475+89C>A 0.450679 0.5734 Uncertain 12_18238787_T->C 12 18238787 18238787 T C snp 111.77 0/1 99 10 5 5 0.5 intronic rs66716140 RERGL AU NM_024730 exon3 c.4503+160T>C Uncertain 12_18473928_T->C 12 18473928 18473928 T C snp 257.77 0/1 99 30 18 12 0.4 exonic rs12309666 PIK3C2G AU synonymous SNV NM_004570 exon7 c.T1170C p.N390N 0.223842 0.2312 0.184206 0.1833 0.2557 Uncertain 12_18499636_C->T 12 18499636 18499636 C T snp 1701.77 0/1 99 157 86 71 0.45 exonic rs17847788 PIK3C2G AU synonymous SNV NM_004570 exon11 c.C1491T p.Y497Y 0.139776 0.1786 0.097738 0.1075 0.1727 Uncertain 12_18499777_C->G 12 18499777 18499777 C G snp 4237.77 1/1 99 160 0 160 1.0 intronic rs10770357 PIK3C2G AU NM_004570 exon11 c.64755+7C>G 1 1 1.0000 1 Uncertain 12_18534866_C->A 12 18534866 18534866 C A snp 1165.77 0/1 99 63 27 36 0.57 intronic rs11044057 PIK3C2G AU NM_004570 exon13 c.99799+52C>A 0.167532 0.1776 0.129559 Uncertain 12_18576730_C->T 12 18576730 18576730 C T snp 62.77 0/1 91 11 8 3 0.27 intronic rs12424423 PIK3C2G AU NM_004570 exon17 c.141863-148C>T 0.229832 0.3056 Uncertain 12_18641326_T->C 12 18641326 18641326 T C snp 1234.77 1/1 90 34 0 34 1.0 intronic rs7137852 PIK3C2G AU NM_004570 exon18 c.206367-56T>C 0.9998 1 Uncertain 12_18720057_T->C 12 18720057 18720057 T C snp 205.77 0/1 99 13 3 10 0.77 intronic rs11044189 PIK3C2G AU NM_004570 exon28 c.284976+66T>C 0.179712 0.252 Uncertain 12_18747387_A->G 12 18747387 18747387 A G snp 148.77 0/1 99 18 11 7 0.39 intronic rs12827507 PIK3C2G AU NM_004570 exon29 c.312412-40A>G 0.160543 0.1925 0.157570 0.2211 0.2783 Uncertain 12_18747528_C->T 12 18747528 18747528 C T snp 361.77 0/1 99 47 30 17 0.36 intronic rs11044211 PIK3C2G AU NM_004570 exon29 c.312488+25C>T 0.328075 0.1925 0.327960 0.2640 0.2105 Uncertain 12_18762450_A->C 12 18762450 18762450 A C snp 1480.77 0/1 99 141 70 71 0.5 intronic rs2277328 PIK3C2G AU NM_004570 exon30 c.327453-18A>C 0.165535 0.131 0.151122 0.2151 0.2842 Uncertain 12_18801017_T->C 12 18801017 18801017 T C snp 1128.77 1/1 84 33 0 33 1.0 UTR3 rs501379 PIK3C2G AU 0.999002 1 Uncertain 12_18838780_G->A 12 18838780 18838780 G A snp 44.74 1/1 6 2 0 2 1.0 intronic rs4764413 PLCZ1 AU NM_033123 exon2 c.1041+1567G>A 0.560304 0.625 Uncertain 12_18854541_TCCTCCTCC->- 12 18854541 18854549 TCCTCCTCC - indel 9454.73 ./1 99 150 0 150 1.0 intronic rs11279217 PLCZ1 AU NM_033123 exon7 c.18330+39_18330+47delTCCTCCTCC 0.2080 0.1410 Uncertain 12_18854541_TCCTCCTCCTCC->- 12 18854541 18854552 TCCTCCTCCTCC - indel 9454.73 ./1 99 150 0 150 1.0 intronic rs531863439 PLCZ1 AU NM_033123 exon7 c.18330+39_18330+50delTCCTCCTCCTCC 0.2460 0.3125 Uncertain 12_18858372_C->G 12 18858372 18858372 C G snp 56.74 1/1 6 3 0 3 1.0 intronic rs1542681 PLCZ1 AU NM_033123 exon9 c.22077+123C>G 0.914736 0.998 Uncertain 12_18872325_G->C 12 18872325 18872325 G C snp 140.03 1/1 12 6 0 6 1.0 intronic rs10841078 PLCZ1 AU NM_033123 exon11 c.36192-39G>C 0.462061 0.5476 0.429257 0.5774 0.6171 Uncertain 12_18889517_-->AATTTGAG 12 18889517 18889517 - AATTTGAG indel 2434.73 1/1 72 24 0 24 1.0 intronic rs144525318 PLCZ1 AU NM_033123 exon13 c.53104+241insAATTTGAG 0.508586 0.6468 Uncertain 12_18890473_T->- 12 18890473 18890473 T - indel 1477.73 1/1 99 54 0 54 1.0 intronic rs398018659 PLCZ1 AU NM_033123 exon14 c.54271+30delT 0.889976 0.999 Uncertain 12_19282670_C->T 12 19282670 19282670 C T snp 685.77 0/1 99 87 51 36 0.41 UTR5 rs28512290 PLEKHA5 AU 0.432508 0.3522 Uncertain 12_19283135_C->A 12 19283135 19283135 C A snp 275.77 0/1 99 16 5 11 0.69 intronic rs61913270 PLEKHA5 AU NM_001190860 exon2 c.331+71C>A 0.715455 0.6974 Uncertain 12_19592600_-->GGA 12 19592600 19592600 - GGA indel 1812.73 1/1 63 43 1 42 0.98 upstream rs371054593 AEBP2 AU 0.1894 0.3197 Uncertain 12_19615698_T->C 12 19615698 19615698 T C snp 949.77 0/1 99 79 38 41 0.52 intronic rs766271338 AEBP2 AU NM_001114176 exon2 c.23018+47T>C 2.213e-05 0.0003 Uncertain 12_19626205_T->C 12 19626205 19626205 T C snp 809.77 0/1 99 76 37 39 0.51 exonic rs56666201 AEBP2 AU synonymous SNV NM_001114176 exon3 c.T903C p.G301G 0.0928514 0.1835 0.040919 0.0625 0.2593 Uncertain 12_19626309_-->AATT 12 19626309 19626309 - AATT indel 888.73 1/1 69 27 0 27 1.0 intronic rs10631217 AEBP2 AU NM_001114176 exon3 c.33656+20insAATT 0.208866 0.0843 0.792574 0.0136 0 Uncertain 12_19626314_T->A 12 19626314 19626314 T A snp 521.77 1/1 39 16 0 16 1.0 intronic rs10631218 AEBP2 AU NM_001114176 exon3 c.33656+25T>A 0.527556 0.5675 0.2665 0.25 Uncertain 12_19626318_T->A 12 19626318 19626318 T A snp 472.77 1/1 36 14 0 14 1.0 intronic rs57423687 AEBP2 AU NM_001114176 exon3 c.33656+29T>A 0.608227 0.63 0.2718 0.2 Uncertain 12_19626322_T->A 12 19626322 19626322 T A snp 315.77 0/1 93 14 4 10 0.71 intronic rs11044583 AEBP2 AU NM_001114176 exon3 c.33656+33T>A 0.511781 0.4841 0.4314 0.3857 Uncertain 12_19873411_G->T 12 19873411 19873411 G T snp 573.77 1/1 45 19 0 19 1.0 intergenic rs4301848 AEBP2 AU 0.979633 1 Uncertain 12_19873497_A->G 12 19873497 19873497 A G snp 1042.77 1/1 75 39 0 39 1.0 intergenic rs4369485 AEBP2 AU 0.928714 1 Uncertain 12_20709733_G->A 12 20709733 20709733 G A snp 3120.77 1/1 99 110 0 110 1.0 intronic rs4762972 PDE3A AD NM_000921 exon2 c.187426+89G>A 0.990415 1 Uncertain 12_20766559_C->T 12 20766559 20766559 C T snp 5165.77 1/1 99 174 0 174 1.0 exonic rs10743380 PDE3A AD synonymous SNV NM_000921 exon3 c.C1194T p.V398V 0.910543 1 0.890358 0.9298 0.9972 Uncertain 12_20766685_G->C 12 20766685 20766685 G C snp 865.77 1/1 63 29 0 29 1.0 intronic rs7308381 PDE3A AD NM_000921 exon3 c.244416+51G>C 0.935703 1 0.920927 0.9482 0.9999 Uncertain 12_20768988_C->T 12 20768988 20768988 C T snp 54.74 1/1 6 2 0 2 1.0 intronic rs4393371 PDE3A AD NM_000921 exon4 c.246945-175C>T 0.829073 0.7897 Uncertain 12_20769027_TAGA->- 12 20769027 20769030 TAGA - indel 294.87 1/1 15 5 0 5 1.0 intronic rs397723739 PDE3A AD NM_000921 exon4 c.246945-136_246945-133delTAGA 0.980232 1 Uncertain 12_20774464_A->G 12 20774464 20774464 A G snp 2893.77 1/1 99 86 0 86 1.0 intronic rs10743381 PDE3A AD NM_000921 exon5 c.252127+119A>G 0.980232 1 Uncertain 12_20774539_A->G 12 20774539 20774539 A G snp 336.78 1/1 27 9 0 9 1.0 intronic rs10734705 PDE3A AD NM_000921 exon5 c.252127+194A>G 0.980232 1 Uncertain 12_20783099_A->C 12 20783099 20783099 A C snp 184.77 0/1 99 20 11 9 0.45 intronic rs7304499 PDE3A AD NM_000921 exon6 c.260843+38A>C 0.579273 0.5417 0.545825 0.6332 0.5721 Uncertain 12_20786787_T->C 12 20786787 20786787 T C snp 2581.77 1/1 99 93 0 93 1.0 intronic rs4265636 PDE3A AD NM_000921 exon7 c.264494+75T>C 0.984225 1 Uncertain 12_20786807_T->G 12 20786807 20786807 T G snp 924.77 0/1 99 73 40 33 0.45 intronic rs3858661 PDE3A AD NM_000921 exon7 c.264494+95T>G 0.442692 0.4286 Uncertain 12_20786813_G->A 12 20786813 20786813 G A snp 862.77 0/1 99 67 31 36 0.54 intronic rs78782960 PDE3A AD NM_000921 exon7 c.264494+101G>A 0.08127 0.0833 Uncertain 12_20786822_C->T 12 20786822 20786822 C T snp 787.77 0/1 99 59 32 27 0.46 intronic rs10841580 PDE3A AD NM_000921 exon7 c.264494+110C>T 0.369609 0.4276 Uncertain 12_20786841_T->C 12 20786841 20786841 T C snp 1240.77 1/1 90 40 0 40 1.0 intronic rs10743382 PDE3A AD NM_000921 exon7 c.264494+129T>C 0.826478 0.9405 Uncertain 12_20786880_C->T 12 20786880 20786880 C T snp 96.77 0/1 99 14 9 5 0.36 intronic rs10841581 PDE3A AD NM_000921 exon7 c.264494+168C>T 0.379393 0.4266 Uncertain 12_20787784_C->- 12 20787784 20787784 C - indel 531.73 0/1 99 41 23 18 0.44 intronic rs151261214 PDE3A AD NM_000921 exon8 c.265617-51delC 0.0800719 0.0833 Uncertain 12_20788137_G->A 12 20788137 20788137 G A snp 115.77 0/1 99 10 5 5 0.5 intronic rs11045352 PDE3A AD NM_000921 exon8 c.265772+147G>A 0.0648962 0.0774 Uncertain 12_20790151_T->C 12 20790151 20790151 T C snp 496.77 0/1 99 54 33 21 0.39 exonic rs141574563 PDE3A AD nonsynonymous SNV NM_000921 exon9 c.T2119C p.C707R 0.00179712 0.0089 0.0007 0.0093 0.06 T 1 D -0.456 T 0.995 D 0.911 D Pathogenic 12_20801855_C->T 12 20801855 20801855 C T snp 1403.77 1/1 99 40 0 40 1.0 intronic rs9284155 PDE3A AD NM_000921 exon13 c.279607+30C>T 0.922923 0.999 0.883455 0.9332 0.9957 Uncertain 12_20803323_A->C 12 20803323 20803323 A C snp 335.78 1/1 27 11 0 11 1.0 intronic rs9804769 PDE3A AD NM_000921 exon14 c.281160-55A>C 0.987819 1 Uncertain 12_20803549_T->C 12 20803549 20803549 T C snp 1860.77 1/1 99 69 0 69 1.0 intronic rs10743384 PDE3A AD NM_000921 exon14 c.281316+15T>C 0.539736 0.7242 0.532908 0.5852 0.7320 Uncertain 12_20870034_T->- 12 20870034 20870034 T - indel 397.73 0/1 99 45 24 21 0.47 intronic rs749151582 SLCO1C1 AU NM_017435 exon7 c.17555-31delT 0.2074 0.2973 Uncertain 12_20886185_C->T 12 20886185 20886185 C T snp 170.9 1/1 15 5 0 5 1.0 intronic rs1399939 SLCO1C1 AU NM_017435 exon10 c.33528+147C>T 0.446286 0.5863 Uncertain 12_20889942_A->G 12 20889942 20889942 A G snp 93.28 1/1 9 3 0 3 1.0 intronic rs974453 SLCO1C1 AU NM_017435 exon11 c.37530-98A>G 0.858227 0.9266 Uncertain 12_20893052_C->A 12 20893052 20893052 C A snp 1649.77 1/1 99 51 0 51 1.0 intronic rs2037154 SLCO1C1 AU NM_017435 exon12 c.40607-65C>A 0.614018 0.746 Uncertain 12_20893108_C->T 12 20893108 20893108 C T snp 3456.77 1/1 99 122 0 122 1.0 intronic rs2271656 SLCO1C1 AU NM_017435 exon12 c.40607-9C>T 0.442292 0.5873 0.415885 0.5374 0.6045 Uncertain 12_20893354_G->C 12 20893354 20893354 G C snp 783.77 1/1 60 22 0 22 1.0 intronic rs12368368 SLCO1C1 AU NM_017435 exon12 c.40792+52G>C 0.442093 0.5873 0.407316 0.5374 0.6062 Uncertain 12_20903520_T->C 12 20903520 20903520 T C snp 56.74 1/1 6 2 0 2 1.0 intronic rs972507 SLCO1C1 AU NM_017435 exon14 c.51098-88T>C 0.476238 0.5942 Uncertain 12_20903757_T->C 12 20903757 20903757 T C snp 7013.77 1/1 99 246 0 246 1.0 exonic rs10841611 SLCO1C1 AU synonymous SNV NM_001145944 exon12 c.T1593C p.H531H 0.477436 0.5913 0.445487 0.5397 0.6135 Uncertain 12_20903865_G->A 12 20903865 20903865 G A snp 2458.77 1/1 99 78 0 78 1.0 intronic rs10841612 SLCO1C1 AU NM_001145946 exon15 c.51319+36G>A 0.475839 0.5923 0.452913 0.5610 0.6251 Uncertain 12_20905250_C->T 12 20905250 20905250 C T snp 697.77 1/1 51 24 1 23 0.96 exonic rs6487138 SLCO1C1 AU nonsynonymous SNV NM_001145944 exon13 c.C1676T p.S559F 0.469449 0.5923 0.441615 0.5359 0.6129 0.04 T 0.619 P -0.920 T 0.946 T 0.789 D Pathogenic 12_20968828_C->T 12 20968828 20968828 C T snp 312.78 1/1 24 11 0 11 1.0 intronic rs10734710 SLCO1B3 AO NM_019844 exon3 c.84+72C>T 0.894768 0.9931 Uncertain 12_21011480_T->G 12 21011480 21011480 T G snp 1601.77 0/1 99 160 85 75 0.47 exonic rs4149117 SLCO1B3 AO nonsynonymous SNV NM_019844 exon5 c.T334G p.S112A 0.702476 0.6974 0.722931 0.8045 0.7248 1 T 0.000 P -0.938 T 0.0 T 0.001 T Pathogenic 12_21011581_G->A 12 21011581 21011581 G A snp 747.77 0/1 99 76 46 30 0.39 intronic rs4149118 SLCO1B3 AO NM_019844 exon5 c.42833+76G>A 0.522364 0.5139 Uncertain 12_21013948_C->T 12 21013948 21013948 C T snp 635.77 0/1 99 37 9 28 0.76 splicing rs3764009 SLCO1B3 AO NM_019844 exon6 c.45278-2C>T 0.702276 0.6984 0.722239 0.8066 0.7252 Pathogenic 12_21014139_C->G 12 21014139 21014139 C G snp 600.74 1/1 6 22 2 20 0.91 intronic rs3764008 SLCO1B3 AO NM_019844 exon6 c.45400+67C>G 0.707268 0.7212 Uncertain 12_21014163_T->A 12 21014163 21014163 T A snp 406.28 0/1 9 16 3 13 0.81 intronic rs3764007 SLCO1B3 AO NM_019844 exon6 c.45400+91T>A 0.707268 0.7212 Uncertain 12_21015610_A->G 12 21015610 21015610 A G snp 860.77 0/1 99 74 38 36 0.49 intronic rs1036261 SLCO1B3 AO NM_019844 exon8 c.47017-79A>G 0.702476 0.6984 Uncertain 12_21015760_G->A 12 21015760 21015760 G A snp 1109.77 0/1 99 105 54 51 0.49 exonic rs7311358 SLCO1B3 AO nonsynonymous SNV NM_019844 exon8 c.G699A p.M233I 0.702476 0.6984 0.722820 0.8044 0.7249 0.37 T 1.000 P -1.046 T 0.092 T 0.03 T Pathogenic 12_21028093_T->C 12 21028093 21028093 T C snp 80.77 0/1 99 8 4 4 0.5 intronic rs3829311 SLCO1B3 AO NM_019844 exon9 c.59496-75T>C 0.610024 0.5159 Uncertain 12_21031020_A->G 12 21031020 21031020 A G snp 74.77 0/1 98 6 3 3 0.5 intronic rs2417938 SLCO1B3 AO NM_019844 exon10 c.62198+150A>G 0.702077 0.6984 Uncertain 12_21031076_C->T 12 21031076 21031076 C T snp 56.74 1/1 6 2 0 2 1.0 intronic rs4382959 SLCO1B3 AO NM_019844 exon10 c.62198+206C>T Uncertain 12_21036411_A->G 12 21036411 21036411 A G snp 368.77 0/1 99 39 23 16 0.41 exonic rs2053098 SLCO1B3 AO synonymous SNV NM_019844 exon13 c.A1557G p.A519A 0.702875 0.6974 0.723051 0.8047 0.7258 Uncertain 12_21054369_G->A 12 21054369 21054369 G A snp 1214.77 1/1 87 44 0 44 1.0 exonic rs3764006 SLCO1B3 AO synonymous SNV NM_019844 exon15 c.G1833A p.G611G 0.678714 0.7312 0.712364 0.8182 0.7524 Uncertain 12_21054918_T->C 12 21054918 21054918 T C snp 1190.77 1/1 87 40 0 40 1.0 intronic rs2082518 SLCO1B3 AO NM_019844 exon15 c.85729+517T>C 0.505791 0.5258 0.7458 0.5674 Uncertain 12_21065365_C->A 12 21065365 21065365 C A snp 173.9 1/1 15 8 0 8 1.0 intronic rs10841706 SLCO1B3 AO NM_019844 exon16 c.100265-3572C>A 0.766573 0.9048 Uncertain 12_21168758_-->A 12 21168758 21168758 - A indel 286.73 1/1 33 13 0 13 1.0 intronic rs34168692 SLCO1B7 AU NM_001009562 exon1 c.85+44insA 0.594428 0.7014 0.7587 Uncertain 12_21176135_T->C 12 21176135 21176135 T C snp 5476.77 1/1 99 218 0 218 1.0 exonic rs1546308 SLCO1B7 AU nonsynonymous SNV NM_001009562 exon5 c.T500C p.V167A 0.959665 0.998 0.948233 0.9496 0.9966 0.39 T 0.0 P -0.970 T 0.0 T 0.001 T Pathogenic 12_21176247_A->G 12 21176247 21176247 A G snp 3655.77 1/1 99 128 1 127 0.99 intronic rs1546307 SLCO1B7 AU NM_001009562 exon5 c.7592+26A>G 0.710863 0.9395 0.692832 0.8412 0.9487 Uncertain 12_21201663_G->A 12 21201663 21201663 G A snp 435.77 1/1 33 16 0 16 1.0 exonic rs11045689 SLCO1B7 AU nonsynonymous SNV NM_001009562 exon8 c.G1012A p.A338T 0.473842 0.3829 0.514713 0.6716 0.5295 0.41 T 0.0 P -0.947 T 0.001 T 0.012 T Pathogenic 12_21207346_T->C 12 21207346 21207346 T C snp 56.74 1/1 6 2 0 2 1.0 intronic rs7312369 SLCO1B7 AU NM_001009562 exon10 c.38756-39T>C 0.482428 0.3859 0.515737 0.6130 0.4147 Uncertain 12_21220349_A->T 12 21220349 21220349 A T snp 933.77 1/1 66 37 0 37 1.0 intronic rs1910163 SLCO1B7 AU NM_001009562 exon11 c.51688+32A>T 0.466454 0.3839 0.479047 0.6330 0.4602 Uncertain 12_21317810_A->G 12 21317810 21317810 A G snp 2353.77 1/1 99 91 0 91 1.0 intronic rs4149033 SLCO1B1 AO NM_006446 exon3 c.31075-7773A>G 0.83107 0.879 0.781710 0.7916 0.8459 Uncertain 12_21327652_-->AA 12 21327652 21327652 - AA indel 886.73 ./1 99 65 4 61 0.94 intronic rs34728625 SLCO1B1 AO NM_006446 exon4 c.33135+9insAA 0.0439297 0.0288 0.0909 0.0585 Uncertain 12_21327652_-->A 12 21327652 21327652 - A indel 886.73 ./1 99 65 4 61 0.94 intronic rs34728625 SLCO1B1 AO NM_006446 exon4 c.33135+9insA 0.370607 0.4018 0.4002 0.4097 Uncertain 12_21331599_T->C 12 21331599 21331599 T C snp 1713.77 1/1 99 67 0 67 1.0 exonic rs4149057 SLCO1B1 AO synonymous SNV NM_006446 exon6 c.T571C p.L191L 0.367412 0.2431 0.488082 0.5260 0.2497 Uncertain 12_21331987_C->T 12 21331987 21331987 C T snp 1052.77 1/1 75 41 0 41 1.0 intronic rs2291076 SLCO1B1 AO NM_006446 exon7 c.37446+33C>T 0.29353 0.245 0.341101 0.4070 0.2532 Uncertain 12_21375289_C->T 12 21375289 21375289 C T snp 164.78 0/1 24 8 1 7 0.88 exonic rs71581941 SLCO1B1 AO stopgain NM_006446 exon13 c.C1738T p.R580X 0.00279553 0.0089 0.001000 0.0016 0.0047 1 T 1 A CLINSIG=pathogenic;CLNDBN=Rotor_syndrome;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000023390.1;CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT;CLNDSDBID=NBK114805:C0220991:237450:ORPHA3111:32891000 ID=COSM4146946;OCCURENCE=1(thyroid) ID=CM077886;DIS=OATP1B1 deficiency;TAG=FP;PUB=18159134 FP Pathogenic 12_21377823_T->G 12 21377823 21377823 T G snp 127.77 0/1 69 9 3 6 0.67 intronic rs11045875 SLCO1B1 AO NM_006446 exon14 c.83265+50T>G 0.00199681 0.0099 0.0008 0.0217 Uncertain 12_21427586_T->C 12 21427586 21427586 T C snp 292.77 0/1 99 20 10 10 0.5 intronic rs3736081 SLCO1A2 AU NM_134431 exon2 c.5039+66T>C 0.123602 0.3641 Uncertain 12_21427608_G->T 12 21427608 21427608 G T snp 150.77 0/1 99 11 6 5 0.45 intronic rs3736080 SLCO1A2 AU NM_134431 exon2 c.5039+88G>T 0.38139 0.37 Uncertain 12_21428371_T->C 12 21428371 21428371 T C snp 207.77 0/1 99 22 10 12 0.55 intronic rs3764044 SLCO1A2 AU NM_134431 exon3 c.5877+13T>C 0.167732 0.3661 0.068848 0.1421 0.4748 Uncertain 12_21450250_C->G 12 21450250 21450250 C G snp 532.77 0/1 99 36 14 22 0.61 intronic rs4148999 SLCO1A2 AU NM_134431 exon7 c.27856-87C>G 0.331669 0.369 Uncertain 12_21453609_T->C 12 21453609 21453609 T C snp 97.77 0/1 99 14 9 5 0.36 intronic rs4148995 SLCO1A2 AU NM_134431 exon8 c.31022+106T>C 0.123802 0.3651 Uncertain 12_21457515_A->- 12 21457515 21457515 A - indel 710.73 0/1 99 55 19 36 0.65 intronic rs3833795 SLCO1A2 AU NM_134431 exon10 c.35026+8delA 0.339856 0.372 0.298243 0.2792 0.4047 Uncertain 12_21467278_T->C 12 21467278 21467278 T C snp 304.77 0/1 99 13 4 9 0.69 intronic rs2306226 SLCO1A2 AU NM_134431 exon12 c.45001-204T>C 0.123602 0.3542 Uncertain 12_21467417_A->G 12 21467417 21467417 A G snp 1695.77 0/1 99 150 77 73 0.49 intronic rs2306227 SLCO1A2 AU NM_134431 exon12 c.45001-65A>G 0.104433 0.3542 Uncertain 12_21590557_A->C 12 21590557 21590557 A C snp 122.77 0/1 66 7 2 5 0.71 UTR5 rs2058463 PYROXD1 AU 0.497204 0.5486 Uncertain 12_21590621_T->C 12 21590621 21590621 T C snp 273.77 0/1 99 32 20 12 0.38 UTR5 rs2058464 PYROXD1 AU 0.486621 0.5476 0.477931 0.4908 0.5693 Uncertain 12_21590788_C->A 12 21590788 21590788 C A snp 1784.77 0/1 99 169 84 85 0.5 intronic rs2110165 PYROXD1 AU NM_024854 exon1 c.84+40C>A 0.486621 0.5476 0.491298 0.5036 0.5816 Uncertain 12_21593404_G->C 12 21593404 21593404 G C snp 795.77 1/1 57 31 0 31 1.0 intronic rs4762702 PYROXD1 AU NM_024854 exon2 c.2718+22G>C 0.985024 1 0.982884 0.9954 1 Uncertain 12_21598264_C->T 12 21598264 21598264 C T snp 119.78 0/1 25 6 1 5 0.83 intronic rs1963817 PYROXD1 AU NM_024854 exon3 c.7616-16C>T 0.382588 0.4742 0.330659 0.4696 0.4832 Uncertain 12_21608043_A->G 12 21608043 21608043 A G snp 68.77 0/1 97 8 5 3 0.38 intronic rs2192183 PYROXD1 AU NM_024854 exon6 c.17401-22A>G 0.476238 0.5268 0.493002 0.4900 0.5578 Uncertain 12_21608891_T->C 12 21608891 21608891 T C snp 37.77 0/1 66 11 7 4 0.36 intronic rs2302500 PYROXD1 AU NM_024854 exon7 c.18264-37T>C 0.476238 0.5268 0.490940 0.5042 0.6024 Uncertain 12_21609127_T->C 12 21609127 21609127 T C snp 1465.77 1/1 99 51 0 51 1.0 intronic rs4367993 PYROXD1 AU NM_024854 exon7 c.18365+98T>C 0.932508 1 Uncertain 12_21609733_A->G 12 21609733 21609733 A G snp 502.77 0/1 99 62 37 25 0.4 intronic rs7964140 PYROXD1 AU NM_024854 exon7 c.18365+704A>G 0.48742 0.5486 Uncertain 12_21609761_-->AACT 12 21609761 21609761 - AACT indel 1908.73 0/1 99 81 50 31 0.38 intronic rs34335650 PYROXD1 AU NM_024854 exon7 c.18365+732insAACT 0.476238 0.5268 0.4565 0.5462 Uncertain 12_21609907_G->A 12 21609907 21609907 G A snp 556.77 0/1 99 40 19 21 0.53 intronic rs7964568 PYROXD1 AU NM_024854 exon7 c.18365+878G>A 0.476238 0.5268 Uncertain 12_21614142_AATTT->- 12 21614142 21614146 AATTT - indel 311.73 0/1 99 17 11 6 0.35 intronic rs151311552 PYROXD1 AU NM_024854 exon8 c.23424+54_23424+58delAATTT 0.476038 0.5268 Uncertain 12_21615207_A->G 12 21615207 21615207 A G snp 99.28 1/1 9 3 0 3 1.0 intronic rs3213210 PYROXD1 AU NM_024854 exon9 c.24390+153A>G 0.381989 0.4732 Uncertain 12_21615664_T->C 12 21615664 21615664 T C snp 153.77 0/1 99 9 4 5 0.56 intronic rs3782660 PYROXD1 AU NM_024854 exon10 c.25009-9T>C 0.476038 0.5268 0.493618 0.4805 0.5545 Uncertain 12_21615917_-->AG 12 21615917 21615917 - AG indel 1051.73 0/1 99 47 18 29 0.62 intronic rs34595378 PYROXD1 AU NM_024854 exon10 c.25132+121insAG 0.475639 0.5268 Uncertain 12_21615931_-->T 12 21615931 21615931 - T indel 186.73 0/1 99 22 9 13 0.59 intronic rs199575795 PYROXD1 AU NM_024854 exon10 c.25132+135insT Uncertain 12_21621737_A->G 12 21621737 21621737 A G snp 189.77 0/1 99 13 7 6 0.46 UTR3 rs12422251 PYROXD1 AU 0.336462 0.2619 0.3716 0.2460 Uncertain 12_21623122_T->G 12 21623122 21623122 T G snp 712.77 0/1 99 74 43 31 0.42 UTR3 rs13035 PYROXD1 AU 0.369409 0.4534 0.339591 0.4280 0.4283 Uncertain 12_21623284_C->A 12 21623284 21623284 C A snp 89.77 0/1 99 55 41 14 0.25 splicing rs557749011 RECQL AU NM_032941 exon1 c.153+4C>A 0.648562 0.5982 0.0197 0.0202 Pathogenic 12_21624309_A->- 12 21624309 21624309 A - indel 1144.73 1/1 99 50 1 49 0.98 intronic rs397758267 RECQL AU NM_032941 exon3 c.1234-52delA 0.30631 0.2381 Uncertain 12_21626324_A->C 12 21626324 21626324 A C snp 596.77 1/1 45 16 0 16 1.0 intronic rs917852 RECQL AU NM_032941 exon4 c.3357-160A>C 0.983027 1 Uncertain 12_21626330_C->A 12 21626330 21626330 C A snp 687.77 1/1 51 18 0 18 1.0 intronic rs917853 RECQL AU NM_032941 exon4 c.3357-154C>A 0.999601 1 Uncertain 12_21627672_C->G 12 21627672 21627672 C G snp 140.77 0/1 99 13 8 5 0.38 intronic rs35159698 RECQL AU NM_032941 exon5 c.4647-102C>G 0.445088 0.5238 Uncertain 12_21627745_A->G 12 21627745 21627745 A G snp 1816.77 0/1 99 100 36 64 0.64 intronic rs2159943 RECQL AU NM_032941 exon5 c.4647-29A>G 0.363219 0.4544 0.337794 0.4279 0.4291 Uncertain 12_21628320_C->T 12 21628320 21628320 C T snp 402.77 0/1 99 27 15 12 0.44 intronic rs10841831 RECQL AU NM_032941 exon6 c.5274-81C>T 0.486821 0.5417 Uncertain 12_21628336_G->A 12 21628336 21628336 G A snp 523.77 0/1 99 36 18 18 0.5 intronic rs10841832 RECQL AU NM_032941 exon6 c.5274-65G>A 0.486821 0.5417 Uncertain 12_21628791_T->C 12 21628791 21628791 T C snp 1476.77 0/1 99 106 55 51 0.48 intronic rs3752648 RECQL AU NM_032941 exon7 c.5631+33T>C 0.48742 0.5437 0.484154 0.4824 0.5738 Uncertain 12_21628812_G->A 12 21628812 21628812 G A snp 2217.77 1/1 99 66 0 66 1.0 intronic rs10160843 RECQL AU NM_032941 exon7 c.5631+54G>A 0.986222 1 Uncertain 12_21629987_T->C 12 21629987 21629987 T C snp 1032.77 1/1 75 37 0 37 1.0 intronic rs917854 RECQL AU NM_032941 exon8 c.6799+61T>C 0.976238 1 0.973915 Uncertain 12_21629993_-->C 12 21629993 21629993 - C indel 949.73 0/1 99 34 8 26 0.76 intronic rs397718052 RECQL AU NM_032941 exon8 c.6799+67insC 0.488818 0.5437 Uncertain 12_21639591_G->C 12 21639591 21639591 G C snp 96.28 1/1 9 3 0 3 1.0 intronic rs7964104 RECQL AU NM_032941 exon11 c.16392+72G>C 0.984824 1 Uncertain 12_21644667_G->A 12 21644667 21644667 G A snp 2499.77 1/1 99 85 0 85 1.0 intronic rs10841834 RECQL AU NM_032941 exon13 c.21523+17G>A 0.373203 0.4623 0.366656 0.4692 0.4698 Uncertain 12_21654644_C->A 12 21654644 21654644 C A snp 164.9 1/1 15 5 0 5 1.0 upstream rs1860947 GOLT1B AU 0.867812 0.9812 Uncertain 12_21654831_G->T 12 21654831 21654831 G T snp 4366.77 1/1 99 162 2 160 0.99 UTR5 rs1060126 GOLT1B AU 0.705671 0.9732 0.641627 0.7817 0.9726 Uncertain 12_21657591_T->- 12 21657591 21657591 T - indel 6661.73 1/1 99 169 0 169 1.0 intronic rs67392337 GOLT1B AU NM_016072 exon2 c.4961-2227delT 0.755192 0.9921 Uncertain 12_21665061_T->G 12 21665061 21665061 T G snp 54.74 1/1 6 2 0 2 1.0 intronic rs140026680 GOLT1B AU NM_016072 exon4 c.10371-167T>G 0.00379393 0.0169 Uncertain 12_21680609_C->G 12 21680609 21680609 C G snp 1662.77 1/1 99 61 0 61 1.0 intronic rs7966780 SPX AU NM_030572 exon4 c.1254-51C>G 0.670527 0.749 0.635867 Uncertain 12_21689882_T->A 12 21689882 21689882 T A snp 988.77 1/1 75 32 0 32 1.0 UTR3 rs10431213 GYS2 AR 0.374601 0.506 0.289251 0.4090 0.5058 Uncertain 12_21692167_A->- 12 21692167 21692167 A - indel 381.73 1/1 39 13 0 13 1.0 intronic rs36023861 GYS2 AR NM_021957 exon2 c.2304-24delA 0.659744 0.7798 0.7443 0.7864 Uncertain 12_21699508_T->C 12 21699508 21699508 T C snp 99.28 1/1 9 3 0 3 1.0 intronic rs1904121 GYS2 AR NM_021957 exon5 c.9517+104T>C 0.567891 0.7897 Uncertain 12_21711009_C->A 12 21711009 21711009 C A snp 224.84 1/1 18 6 0 6 1.0 intronic rs7967170 GYS2 AR NM_021957 exon6 c.21246-124C>A 0.715655 0.7629 Uncertain 12_21711111_G->C 12 21711111 21711111 G C snp 2469.77 1/1 99 81 0 81 1.0 intronic rs7977474 GYS2 AR NM_021957 exon6 c.21246-22G>C 0.715655 0.7629 0.717515 0.7661 0.7543 Uncertain 12_21711385_G->C 12 21711385 21711385 G C snp 771.77 1/1 57 23 0 23 1.0 intronic rs7977846 GYS2 AR NM_021957 exon6 c.21360+138G>C 0.715655 0.7629 Uncertain 12_21711436_G->A 12 21711436 21711436 G A snp 176.9 1/1 15 5 0 5 1.0 intronic rs7977957 GYS2 AR NM_021957 exon6 c.21360+189G>A 0.729633 0.7629 Uncertain 12_21712545_A->G 12 21712545 21712545 A G snp 1104.77 1/1 81 41 0 41 1.0 intronic rs1871136 GYS2 AR NM_021957 exon8 c.22697-39A>G 0.740615 0.7629 0.740992 0.7657 0.7466 Uncertain 12_21712574_C->T 12 21712574 21712574 C T snp 1325.77 1/1 93 53 0 53 1.0 intronic rs1871137 GYS2 AR NM_021957 exon8 c.22697-10C>T 0.740615 0.7629 0.742690 0.7681 0.7486 Uncertain 12_21712729_ACATTCTTTGAAATT->- 12 21712729 21712743 ACATTCTTTGAAATT - indel 3415.73 1/1 60 41 0 41 1.0 intronic rs111250042 GYS2 AR NM_021957 exon8 c.22757+85_22757+99delACATTCTTTGAAATT 0.697484 0.7312 Uncertain 12_21713150_C->A 12 21713150 21713150 C A snp 509.77 1/1 39 13 0 13 1.0 intronic rs1871141 GYS2 AR NM_021957 exon9 c.23432-169C>A 0.735024 0.7629 Uncertain 12_21713308_T->A 12 21713308 21713308 T A snp 6607.77 1/1 99 250 1 249 1.0 intronic rs4639981 GYS2 AR NM_021957 exon9 c.23432-11T>A 0.754593 0.7629 0.765185 0.7896 0.7506 Uncertain 12_21713402_T->C 12 21713402 21713402 T C snp 6512.77 1/1 99 236 0 236 1.0 exonic rs2306180 GYS2 AR nonsynonymous SNV NM_021957 exon8 c.A1087G p.M363V 0.740615 0.7629 0.742734 0.7686 0.7505 1 T 0.000 P -0.928 T 0.0 T 0.0 T Pathogenic 12_21715801_A->G 12 21715801 21715801 A G snp 4191.77 1/1 99 148 0 148 1.0 intronic rs1473421 GYS2 AR NM_021957 exon10 c.25964-50A>G 0.72504 0.7629 0.717823 0.7528 0.7497 Uncertain 12_21716055_A->C 12 21716055 21716055 A C snp 2349.77 1/1 99 61 1 60 0.98 intronic rs1473422 GYS2 AR NM_021957 exon10 c.26085+83A>C 0.72504 0.7629 Uncertain 12_21716098_T->C 12 21716098 21716098 T C snp 1863.77 1/1 99 64 0 64 1.0 intronic rs1473423 GYS2 AR NM_021957 exon11 c.26274-63T>C 0.72504 0.7629 Uncertain 12_21727315_C->A 12 21727315 21727315 C A snp 2063.77 1/1 99 65 0 65 1.0 intronic rs7963756 GYS2 AR NM_021957 exon13 c.37373+55C>A 0.959665 0.9871 Uncertain 12_21733121_T->G 12 21733121 21733121 T G snp 512.77 1/1 39 13 0 13 1.0 intronic rs2126887 GYS2 AR NM_021957 exon15 c.43388-154T>G 0.959265 0.9871 Uncertain 12_21757272_A->G 12 21757272 21757272 A G snp 56.74 1/1 6 2 0 2 1.0 intronic rs153944 GYS2 AR NM_021957 exon16 c.67518-133A>G 0.952676 1 Uncertain 12_21789968_G->T 12 21789968 21789968 G T snp 251.8 1/1 21 8 0 8 1.0 intronic rs1677134 LDHB AU NM_002300 exon2 c.1529-36G>T 0.964856 1 0.966861 0.9907 1 Uncertain 12_21791272_T->C 12 21791272 21791272 T C snp 328.78 1/1 27 12 0 12 1.0 intronic rs1650289 LDHB AU NM_002300 exon3 c.2811-14T>C 0.932508 1 0.935414 0.9805 0.9997 Uncertain 12_21791411_A->- 12 21791411 21791411 A - indel 258.77 0/1 21 26 4 22 0.85 intronic rs533485249 LDHB AU NM_002300 exon3 c.2929+7delA 0.485423 0.497 0.5202 0.5174 Uncertain 12_21791455_A->T 12 21791455 21791455 A T snp 314.78 1/1 24 10 0 10 1.0 intronic rs1427830 LDHB AU NM_002300 exon3 c.2929+51A>T 0.952276 1 0.958025 0.9870 0.9992 Uncertain 12_21794865_A->T 12 21794865 21794865 A T snp 475.77 1/1 36 15 0 15 1.0 intronic rs1626023 LDHB AU NM_002300 exon4 c.6410-20A>T 0.999401 1 1.0000 1 Uncertain 12_21796814_G->A 12 21796814 21796814 G A snp 2364.77 1/1 99 77 0 77 1.0 intronic rs4762862 LDHB AU NM_002300 exon5 c.8393-54G>A 0.952676 1 Uncertain 12_21797029_A->G 12 21797029 21797029 A G snp 2693.77 1/1 99 96 0 96 1.0 exonic rs1650294 LDHB AU synonymous SNV NM_002300 exon4 c.T261C p.T87T 0.952276 1 0.954175 0.9854 0.9995 Uncertain 12_21799999_G->C 12 21799999 21799999 G C snp 4694.77 1/1 99 171 0 171 1.0 intronic rs1540405 LDHB AU NM_002300 exon6 c.11475+49G>C 0.932508 1 0.935568 0.9805 0.9997 Uncertain 12_21807432_T->C 12 21807432 21807432 T C snp 836.77 1/1 63 27 0 27 1.0 intronic rs1677078 LDHB AU NM_002300 exon7 c.19001-44T>C 0.932308 1 0.935184 0.9805 0.9997 Uncertain 12_21807640_G->A 12 21807640 21807640 G A snp 2267.77 1/1 99 86 0 86 1.0 intronic rs1650315 LDHB AU NM_002300 exon7 c.19136+29G>A 0.932508 1 0.935184 0.9805 0.9997 Uncertain 12_21807687_C->G 12 21807687 21807687 C G snp 1189.77 1/1 87 39 1 38 0.97 intronic rs7953579 LDHB AU NM_002300 exon7 c.19136+76C>G 0.716653 0.876 Uncertain 12_21995555_C->A 12 21995555 21995555 C A snp 237.84 0/1 18 9 1 8 0.89 intronic rs1643235 ABCC9 AU,AD NM_020297 exon12 c.41428+150C>A 0.673922 0.6895 Uncertain 12_22005003_T->G 12 22005003 22005003 T G snp 620.77 0/1 99 66 39 27 0.41 intronic rs2307024 ABCC9 AU,AD NM_020297 exon17 c.51053-27T>G 0.334665 0.2649 0.359659 0.3883 0.2798 Uncertain 12_22005510_A->G 12 22005510 22005510 A G snp 1501.77 1/1 99 50 0 50 1.0 intronic rs704183 ABCC9 AU,AD NM_020297 exon18 c.51462+71A>G 0.994609 1 Uncertain 12_22012422_C->T 12 22012422 22012422 C T snp 667.77 0/1 99 38 17 21 0.55 intronic rs4148671 ABCC9 AU,AD NM_020297 exon19 c.58542-97C>T 0.0123802 0.0536 Uncertain 12_22014161_C->A 12 22014161 22014161 C A snp 56.74 1/1 6 2 0 2 1.0 intronic rs2418018 ABCC9 AU,AD NM_020297 exon20 c.60012+172C>A 0.999201 1 Uncertain 12_22014163_C->T 12 22014163 22014163 C T snp 56.74 1/1 6 2 0 2 1.0 intronic rs2418019 ABCC9 AU,AD NM_020297 exon20 c.60012+174C>T 0.999201 1 Uncertain 12_22014165_C->A 12 22014165 22014165 C A snp 56.74 1/1 6 2 0 2 1.0 intronic rs2418020 ABCC9 AU,AD NM_020297 exon20 c.60012+176C>A 0.999201 1 Uncertain 12_22017422_A->G 12 22017422 22017422 A G snp 1190.77 1/1 84 49 0 49 1.0 intronic rs697250 ABCC9 AU,AD NM_020297 exon22 c.63434+11A>G 0.998203 1 0.998075 0.9995 1 CLINSIG=non-pathogenic;CLNDBN=not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000123455.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Uncertain 12_22017486_C->G 12 22017486 22017486 C G snp 915.77 1/1 66 35 0 35 1.0 intronic rs697251 ABCC9 AU,AD NM_020297 exon22 c.63434+75C>G 0.998203 1 0.998026 Uncertain 12_22035615_A->T 12 22035615 22035615 A T snp 472.77 0/1 99 35 18 17 0.49 intronic rs4148663 ABCC9 AU,AD NM_020297 exon25 c.81722-84A>T 0.0391374 0.1181 Uncertain 12_22035873_C->T 12 22035873 22035873 C T snp 2404.77 1/1 99 86 0 86 1.0 intronic rs1356368 ABCC9 AU,AD NM_020297 exon25 c.81830+66C>T 0.534744 0.5169 Uncertain 12_22047151_G->T 12 22047151 22047151 G T snp 2128.77 1/1 99 75 0 75 1.0 intronic rs704216 ABCC9 AU,AD NM_020297 exon27 c.93131+43G>T 0.997804 1 0.998078 0.9995 1 Uncertain 12_22047174_C->T 12 22047174 22047174 C T snp 1619.77 1/1 99 55 0 55 1.0 intronic rs704217 ABCC9 AU,AD NM_020297 exon27 c.93131+66C>T 0.686302 0.8264 Uncertain 12_22060856_T->C 12 22060856 22060856 T C snp 50.74 1/1 6 2 0 2 1.0 intronic rs1492135 ABCC9 AU,AD NM_020297 exon30 c.107033-154T>C 0.991414 1 Uncertain 12_22063115_A->G 12 22063115 22063115 A G snp 4496.77 1/1 99 189 0 189 1.0 exonic rs10770865 ABCC9 AU,AD synonymous SNV NM_005691 exon8 c.T1296C p.P432P 0.997204 1 0.996463 0.9990 1 CLINSIG=probable-non-pathogenic,non-pathogenic|non-pathogenic;CLNDBN=not_specified,not_specified|not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter,criteria_provided\x2c_single_submitter|criteria_provided\x2c_single_submitter;CLNACC=RCV000154427.1,RCV000038583.2|RCV000123452.1;CLNDSDB=MedGen,MedGen|MedGen;CLNDSDBID=CN169374,CN169374|CN221809 Uncertain 12_22063252_A->- 12 22063252 22063252 A - indel 544.73 0/1 99 90 34 56 0.62 splicing rs35857705 ABCC9 AU,AD NM_020297 exon31 c.109269+6delA 0.375799 0.3681 0.4407 0.3995 CLINSIG=probable-non-pathogenic;CLNDBN=Cardiomyopathy;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000029273.1;CLNDSDB=MedGen:SNOMED_CT;CLNDSDBID=C0878544:85898001 Pathogenic 12_22063337_A->G 12 22063337 22063337 A G snp 31.77 0/1 60 9 7 2 0.22 intronic rs4148656 ABCC9 AU,AD NM_020297 exon31 c.109269+91A>G 0.661142 0.8046 Uncertain 12_22063353_A->C 12 22063353 22063353 A C snp 122.77 0/1 66 7 3 4 0.57 intronic rs4148655 ABCC9 AU,AD NM_020297 exon31 c.109269+107A>C 0.295927 0.1944 Uncertain 12_22063737_G->T 12 22063737 22063737 G T snp 2474.77 1/1 99 85 0 85 1.0 intronic rs4762719 ABCC9 AU,AD NM_020297 exon32 c.109782-22G>T 0.991613 1 0.989694 0.9969 1 Uncertain 12_22063749_T->C 12 22063749 22063749 T C snp 2819.77 1/1 99 101 1 100 0.99 intronic rs4762720 ABCC9 AU,AD NM_020297 exon32 c.109782-10T>C 0.991613 1 0.989771 0.9969 1 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter|criteria_provided\x2c_single_submitter;CLNACC=RCV000038581.2|RCV000123451.1;CLNDSDB=MedGen|MedGen;CLNDSDBID=CN169374|CN221809 Uncertain 12_22063971_A->G 12 22063971 22063971 A G snp 621.77 0/1 99 38 13 25 0.66 intronic rs4148654 ABCC9 AU,AD NM_020297 exon32 c.109935+59A>G 0.667332 0.8046 Uncertain 12_22066017_-->A 12 22066017 22066017 - A indel 162.73 0/1 99 34 16 18 0.53 intronic rs199947733 ABCC9 AU,AD NM_020297 exon33 c.112023+17insA 0.0545 0.1347 Uncertain 12_22068849_G->T 12 22068849 22068849 G T snp 536.77 0/1 99 50 30 20 0.4 splicing rs3759236 ABCC9 AU,AD NM_020297 exon34 c.114867+5G>T 0.644768 0.8026 0.587937 0.6138 0.7864 CLINSIG=non-pathogenic,non-pathogenic|non-pathogenic;CLNDBN=not_specified,not_specified|not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter,criteria_provided\x2c_single_submitter|criteria_provided\x2c_single_submitter;CLNACC=RCV000154426.1,RCV000038622.2|RCV000123447.1;CLNDSDB=MedGen,MedGen|MedGen;CLNDSDBID=CN169374,CN169374|CN221809 Pathogenic 12_22078245_G->C 12 22078245 22078245 G C snp 272.77 0/1 99 15 6 9 0.6 intronic rs2900493 ABCC9 AU,AD NM_020297 exon36 c.124898-630G>C 0.684904 0.7996 Uncertain 12_22078556_T->C 12 22078556 22078556 T C snp 222.77 0/1 99 21 11 10 0.48 intronic rs2277404 ABCC9 AU,AD NM_020297 exon36 c.124898-319T>C 0.354034 0.5308 Uncertain 12_22078571_T->A 12 22078571 22078571 T A snp 104.77 0/1 99 12 7 5 0.42 intronic rs2176394 ABCC9 AU,AD NM_020297 exon36 c.124898-304T>A 0.678315 0.8006 Uncertain 12_22078838_T->G 12 22078838 22078838 T G snp 501.77 0/1 99 26 9 17 0.65 intronic rs2277405 ABCC9 AU,AD NM_020297 exon36 c.124898-37T>G 0.701677 0.8056 0.638936 0.6415 0.7898 Uncertain 12_22086976_A->C 12 22086976 22086976 A C snp 605.77 1/1 48 19 0 19 1.0 intronic rs6487252 ABCC9 AU,AD NM_020297 exon37 c.132880+119A>C 0.998203 1 Uncertain 12_22089348_G->A 12 22089348 22089348 G A snp 267.8 1/1 21 7 0 7 1.0 intronic rs4586220 ABCC9 AU,AD NM_020297 exon38 c.135489-118G>A 0.97524 0.997 Uncertain 12_22089432_T->G 12 22089432 22089432 T G snp 514.77 0/1 99 52 32 20 0.38 intronic rs17846791 ABCC9 AU,AD NM_020297 exon38 c.135489-34T>G 0.00519169 0.0258 0.0018 0.0249 Uncertain 12_22213786_C->T 12 22213786 22213786 C T snp 279.77 0/1 99 37 25 12 0.32 exonic rs10841930 CMAS AU synonymous SNV NM_018686 exon5 c.C714T p.Y238Y 0.253195 0.4524 0.118905 0.1866 0.4807 Uncertain 12_22215195_TTT->- 12 22215195 22215197 TTT - indel 513.73 ./1 99 22 1 21 0.95 intronic rs33946820 CMAS AU NM_018686 exon7 c.15977-19_15977-17delTTT 0.287141 0.4405 0.2757 0.4941 Uncertain 12_22215195_T->- 12 22215195 22215195 T - indel 513.73 ./1 99 22 1 21 0.95 intronic rs375987416 CMAS AU NM_018686 exon7 c.15977-19delT 0.303914 0.2401 0.2622 0.1663 Uncertain 12_22215409_AATT->- 12 22215409 22215412 AATT - indel 1881.73 0/1 99 70 31 39 0.56 intronic rs143225178 CMAS AU NM_018686 exon7 c.16131+41_16131+44delAATT 0.349042 0.5407 0.197507 0.2556 0.5650 Uncertain 12_22354921_A->G 12 22354921 22354921 A G snp 970.77 0/1 99 98 57 41 0.42 exonic rs704219 ST8SIA1 AU synonymous SNV NM_001304450 exon4 c.T207C p.I69I 0.810104 0.8462 0.761725 0.8067 0.8400 Uncertain 12_22439322_T->C 12 22439322 22439322 T C snp 1545.77 0/1 99 100 38 62 0.62 intronic rs3819878 ST8SIA1 AU NM_001304450 exon3 c.85597-760T>C 0.194888 0.1915 Uncertain 12_22478425_A->G 12 22478425 22478425 A G snp 2303.77 1/1 99 86 0 86 1.0 intronic rs4762904 ST8SIA1 AU NM_001304450 exon4 c.132445-8505A>G 0.561701 0.8403 0.5353 0.8582 Uncertain 12_22478698_C->A 12 22478698 22478698 C A snp 332.78 1/1 27 10 0 10 1.0 intronic rs4762905 ST8SIA1 AU NM_001304450 exon4 c.132445-8232C>A 0.610224 0.8671 0.6514 0.9141 Uncertain 12_22696845_G->A 12 22696845 22696845 G A snp 754.77 1/1 57 19 0 19 1.0 intronic rs2271471 C2CD5 AU NM_014802 exon24 c.94301-149G>A 0.241613 0.7619 Uncertain 12_22697154_C->T 12 22697154 22697154 C T snp 1894.77 0/1 99 148 75 73 0.49 UTR5 rs555837518 C2CD5 AU 0.000199681 0.001 Uncertain 12_22796994_-->T 12 22796994 22796994 - T indel 3522.73 1/1 99 80 0 80 1.0 intronic rs11429701 ETNK1 AU NM_018638 exon2 c.18859+38insT 0.955871 0.9732 0.959146 0.9838 0.9764 Uncertain 12_22814036_A->G 12 22814036 22814036 A G snp 3488.77 1/1 99 133 0 133 1.0 exonic rs4963793 ETNK1 AU synonymous SNV NM_018638 exon4 c.A864G p.E288E 0.25599 0.6925 0.106874 0.1896 0.6995 1.0 P -0.970 T Likely benign 12_23689301_T->C 12 23689301 23689301 T C snp 294.78 1/1 24 8 0 8 1.0 intronic rs4636755 SOX5 AD NM_001261415 exon2 c.2234-85T>C 0.79373 0.9712 Uncertain 12_23696116_C->T 12 23696116 23696116 C T snp 1743.77 0/1 99 162 83 79 0.49 intronic rs7485662 SOX5 AD NM_001261415 exon3 c.8992-28C>T 0.486821 0.4405 0.518299 0.5150 0.4588 Uncertain 12_23737326_C->T 12 23737326 23737326 C T snp 546.77 0/1 99 49 27 22 0.45 intronic rs11046991 SOX5 AD NM_178010 exon7 c.50328-154C>T 0.232228 0.3204 Uncertain 12_23737566_G->A 12 23737566 23737566 G A snp 1054.77 0/1 99 87 44 43 0.49 intronic rs11046992 SOX5 AD NM_178010 exon7 c.50394+20G>A 0.230431 0.3204 0.231494 Uncertain 12_23757245_C->T 12 23757245 23757245 C T snp 912.77 1/1 66 31 0 31 1.0 intronic rs1479452 SOX5 AD NM_001261415 exon7 c.70168-75C>T 0.625799 0.6974 Uncertain 12_23915547_-->A 12 23915547 23915547 - A indel 919.73 1/1 83 51 2 49 0.96 intronic rs397809590 SOX5 AD NM_001261415 exon12 c.221506+6889insA 0.830072 0.8839 0.6054 0.5932 Uncertain 12_23998888_T->C 12 23998888 23998888 T C snp 6549.77 1/1 99 239 0 239 1.0 intronic rs7980561 SOX5 AD NM_001261415 exon13 c.311764-28T>C 0.736621 0.8938 0.657235 0.7229 0.8912 Uncertain 12_24737061_G->A 12 24737061 24737061 G A snp 262.8 1/1 21 7 0 7 1.0 ncRNA_exonic rs7969489 LINC00477 AU 0.387181 0.7421 0.163924 0.2432 0.7727 Uncertain 12_24737062_C->A 12 24737062 24737062 C A snp 220.84 1/1 18 6 0 6 1.0 ncRNA_exonic rs7969292 LINC00477 AU 0.388978 0.748 0.167538 0.2432 0.7726 Uncertain 12_25031449_A->G 12 25031449 25031449 A G snp 4303.77 1/1 99 161 0 161 1.0 intronic rs6487436 BCAT1 AU NM_001178093 exon7 c.60522-14A>G 0.914736 0.996 0.866344 0.8689 0.9991 Uncertain 12_25047481_A->- 12 25047481 25047481 A - indel 553.73 0/1 99 46 13 33 0.72 intronic rs61127951 BCAT1 AU NM_001178093 exon9 c.76468+72delA Uncertain 12_25054891_G->A 12 25054891 25054891 G A snp 215.77 0/1 99 33 24 9 0.27 intronic rs2291894 BCAT1 AU NM_001178094 exon11 c.83955-5G>A 0.624002 0.5665 0.638298 0.6483 0.5870 Uncertain 12_25147192_A->T 12 25147192 25147192 A T snp 431.77 0/1 99 45 27 18 0.4 UTR3 rs16928315 C12orf77 AU 0.157947 0.3264 0.059069 0.1398 0.3462 Uncertain 12_25147300_G->C 12 25147300 25147300 G C snp 1565.77 1/1 99 60 0 60 1.0 intronic rs699030 C12orf77 AU NM_001101339 exon1 c.31+39G>C 0.961661 1 0.964268 0.9890 1 Uncertain 12_25147362_G->A 12 25147362 25147362 G A snp 338.77 0/1 99 28 15 13 0.46 intronic rs1846016 C12orf77 AU NM_001101339 exon1 c.31+101G>A 0.338059 0.4683 Uncertain 12_25148755_C->G 12 25148755 25148755 C G snp 7444.77 1/1 99 250 0 250 1.0 exonic rs864161 C12orf77 AU nonsynonymous SNV NM_001101339 exon3 c.G393C p.L131F 0.949281 1 0.963844 0.9636 1 0 D 0.0 P -0.972 T 0.0 T 0.0 T Pathogenic 12_25149982_G->A 12 25149982 25149982 G A snp 187.9 1/1 15 7 0 7 1.0 intronic rs75288396 C12orf77 AU NM_001101339 exon4 c.2935-183G>A 0.299521 0.4067 Uncertain 12_25236543_C->A 12 25236543 25236543 C A snp 250.8 1/1 21 7 0 7 1.0 intronic rs10743537 LRMP AU NM_006152 exon9 c.14086+116C>A 0.860623 0.9921 Uncertain 12_25240964_G->C 12 25240964 25240964 G C snp 319.77 0/1 99 24 10 14 0.58 intronic rs866510 LRMP AU NM_006152 exon10 c.18692-69G>C 0.252396 0.3105 0.200394 Uncertain 12_25241224_G->A 12 25241224 25241224 G A snp 329.78 1/1 27 10 0 10 1.0 intronic rs859154 LRMP AU NM_006152 exon10 c.18750+133G>A 0.550719 0.377 Uncertain 12_25249743_T->C 12 25249743 25249743 T C snp 646.77 1/1 48 19 0 19 1.0 intronic rs10842464 LRMP AU NM_006152 exon14 c.27502-100T>C 0.517372 0.9028 Uncertain 12_25249785_T->C 12 25249785 25249785 T C snp 1614.77 1/1 99 54 0 54 1.0 intronic rs10771166 LRMP AU NM_006152 exon14 c.27502-58T>C 0.593251 0.9107 Uncertain 12_25253983_T->A 12 25253983 25253983 T A snp 345.28 0/1 9 11 1 10 0.91 intronic rs11047833 LRMP AU NM_006152 exon15 c.31770-128T>A 0.266374 0.1042 Uncertain 12_25254975_A->C 12 25254975 25254975 A C snp 4969.77 1/1 99 177 2 175 0.99 intronic rs7303889 LRMP AU NM_006152 exon16 c.32790-156A>C 0.841454 0.9921 Uncertain 12_25261165_A->G 12 25261165 25261165 A G snp 50.74 1/1 6 2 0 2 1.0 UTR3 rs11047837 LRMP AU 0.0942492 0.1032 Uncertain 12_25261735_G->T 12 25261735 25261735 G T snp 3049.77 1/1 99 96 0 96 1.0 exonic rs859146 CASC1 AU nonsynonymous SNV NM_001204101 exon13 c.C1721A p.A574E 0.996805 1 0.998616 0.9995 1 1 T 0.000 P -0.982 T 0.0 T 0.0 T Pathogenic 12_25272297_A->C 12 25272297 25272297 A C snp 925.77 1/1 69 26 0 26 1.0 intronic rs2291364 CASC1 AU NM_001204102 exon5 c.10754+62A>C 0.0948482 0.1042 Uncertain 12_25274593_A->G 12 25274593 25274593 A G snp 385.77 1/1 30 10 0 10 1.0 intronic rs2220195 CASC1 AU NM_001204102 exon6 c.13205-93A>G 0.6877 0.9921 Uncertain 12_25297713_C->T 12 25297713 25297713 C T snp 302.78 1/1 24 8 0 8 1.0 intronic rs7971062 CASC1 AU NM_001204102 exon8 c.36130+102C>T 0.527157 0.8978 Uncertain 12_25299921_G->A 12 25299921 25299921 G A snp 6629.77 1/1 99 250 0 250 1.0 intronic rs11047863 CASC1 AU NM_001204102 exon9 c.38453-13G>A 0.688498 0.9921 0.653107 0.7876 0.9927 Uncertain 12_25302481_T->C 12 25302481 25302481 T C snp 519.77 1/1 39 17 0 17 1.0 intronic rs10842485 CASC1 AU NM_001204102 exon10 c.41080-80T>C 0.688498 0.9921 Uncertain 12_25311489_G->T 12 25311489 25311489 G T snp 1102.77 1/1 78 47 0 47 1.0 exonic rs10842496 CASC1 AU nonsynonymous SNV NM_001082973 exon3 c.C97A p.R33S 0.253794 0.1925 0.291494 0.3321 0.2220 0.02 T 1.0 P -1.027 T 1.0 D 0.999 D Pathogenic 12_25314275_C->G 12 25314275 25314275 C G snp 494.77 1/1 39 13 0 13 1.0 intronic rs4405405 CASC1 AU NM_001204102 exon14 c.52650+144C>G 0.996805 1 Uncertain 12_25368462_C->T 12 25368462 25368462 C T snp 4357.77 1/1 99 165 0 165 1.0 intronic rs4362222 KRAS AU,AD NM_033360 exon2 c.120-32C>T 0.997604 1 0.998539 0.9995 1 CLINSIG=non-pathogenic,non-pathogenic|non-pathogenic;CLNDBN=not_specified,not_specified|Rasopathy;CLNREVSTAT=criteria_provided\x2c_single_submitter,criteria_provided\x2c_single_submitter|criteria_provided\x2c_single_submitter;CLNACC=RCV000150886.1,RCV000039808.2|RCV000149847.2;CLNDSDB=MedGen,MedGen|MedGen;CLNDSDBID=CN169374,CN169374|CN166718 Uncertain 12_25388290_G->T 12 25388290 25388290 G T snp 1687.77 1/1 99 57 0 57 1.0 intronic rs7133635 KRAS AU,AD NM_033360 exon4 c.11972+7944G>T 0.931909 1 Uncertain 12_25671759_T->A 12 25671759 25671759 T A snp 2425.77 1/1 99 91 0 91 1.0 exonic rs1479500 LMNTD1 AU nonsynonymous SNV NM_001145727 exon6 c.A907T p.T303S 0.714856 0.876 0.744041 0.7855 0.8631 1 T 0.0 P -0.986 T 0.0 T 0.0 T Pathogenic 12_25679932_G->A 12 25679932 25679932 G A snp 594.77 1/1 45 16 0 16 1.0 intronic rs1705419 LMNTD1 AU NM_152590 exon6 c.23196+43G>A 0.74361 0.869 0.772636 0.8095 0.8671 Uncertain 12_25699523_A->G 12 25699523 25699523 A G snp 987.77 1/1 72 36 0 36 1.0 intronic rs278990 LMNTD1 AU NM_152590 exon7 c.42795+35A>G 0.749401 0.8919 0.776093 0.8206 0.8884 Uncertain 12_26208474_C->A 12 26208474 26208474 C A snp 781.77 0/1 99 76 41 35 0.46 intronic rs3741546 RASSF8 AU NM_001164748 exon2 c.103+95C>A 0.127796 0.3016 Uncertain 12_26208488_A->G 12 26208488 26208488 A G snp 645.77 0/1 99 63 36 27 0.43 intronic rs3741547 RASSF8 AU NM_001164748 exon2 c.103+109A>G 0.127995 0.3016 Uncertain 12_26217567_T->C 12 26217567 26217567 T C snp 1316.77 0/1 99 113 61 52 0.46 exonic rs1495660 RASSF8 AU synonymous SNV NM_001164746 exon3 c.T240C p.T80T 0.129792 0.3105 0.011379 0.0746 0.2825 Uncertain 12_26231843_G->T 12 26231843 26231843 G T snp 1787.77 1/1 99 77 0 77 1.0 intronic rs7133685 RASSF8 AU NM_007211 exon6 c.23689-122G>T 0.989018 1 Uncertain 12_26275555_G->A 12 26275555 26275555 G A snp 543.77 0/1 99 42 17 25 0.6 exonic rs11048413 BHLHE41 AD nonsynonymous SNV NM_030762 exon5 c.C893T p.A298V 0.370607 0.5347 0.5680 0.75 0.28 T 1.000 P -0.939 T 0.051 T 0.001 T Pathogenic 12_26581306_G->A 12 26581306 26581306 G A snp 953.77 0/1 99 87 48 39 0.45 intronic rs4963995 ITPR2 AR NM_002223 exon9 c.88692+285G>A 0.483826 0.376 Uncertain 12_26592288_G->A 12 26592288 26592288 G A snp 759.77 0/1 99 73 45 28 0.38 intronic rs2270960 ITPR2 AR NM_002223 exon11 c.99923+36G>A 0.458666 0.3631 0.556610 0.5357 0.3625 Uncertain 12_26596618_C->T 12 26596618 26596618 C T snp 1939.77 0/1 99 189 108 81 0.43 intronic rs2220406 ITPR2 AR NM_002223 exon12 c.104254+35C>T 0.792931 0.7798 0.808126 0.8489 0.7835 Uncertain 12_26777379_T->C 12 26777379 26777379 T C snp 938.77 1/1 69 27 0 27 1.0 intronic rs2880875 ITPR2 AR NM_002223 exon34 c.284960+90T>C 0.698882 0.9405 Uncertain 12_26784850_G->A 12 26784850 26784850 G A snp 3865.77 1/1 99 146 0 146 1.0 exonic rs2230372 ITPR2 AR synonymous SNV NM_002223 exon22 c.C2883T p.H961H 0.492812 0.3839 0.521363 0.4856 0.3566 Uncertain 12_26809177_C->T 12 26809177 26809177 C T snp 2441.77 1/1 99 85 0 85 1.0 intronic rs2880877 ITPR2 AR NM_002223 exon39 c.316900-52C>T 0.393371 0.6518 Uncertain 12_26809316_G->A 12 26809316 26809316 G A snp 4427.77 1/1 99 160 0 160 1.0 exonic rs2230379 ITPR2 AR synonymous SNV NM_002223 exon19 c.C2358T p.H786H 0.294928 0.5635 0.157164 0.2392 0.5553 Uncertain 12_26810777_T->C 12 26810777 26810777 T C snp 5056.77 1/1 99 183 0 183 1.0 exonic rs2291264 ITPR2 AR synonymous SNV NM_002223 exon18 c.A2055G p.S685S 0.397364 0.6518 0.309943 0.3913 0.6515 Uncertain 12_26810816_T->G 12 26810816 26810816 T G snp 3634.77 1/1 99 122 0 122 1.0 exonic rs2291263 ITPR2 AR synonymous SNV NM_002223 exon18 c.A2016C p.S672S 0.280551 0.5635 0.145221 0.2348 0.5540 Uncertain 12_26812245_G->A 12 26812245 26812245 G A snp 2757.77 1/1 99 100 0 100 1.0 intronic rs2306549 ITPR2 AR NM_002223 exon42 c.319889+27G>A 0.298522 0.5635 0.162412 0.2399 0.5536 Uncertain 12_26816496_T->C 12 26816496 26816496 T C snp 1797.77 1/1 99 57 0 57 1.0 intronic rs1375656 ITPR2 AR NM_002223 exon43 c.324288-121T>C 0.846246 0.8651 Uncertain 12_26816831_C->T 12 26816831 26816831 C T snp 412.77 1/1 33 13 0 13 1.0 intronic rs2306548 ITPR2 AR NM_002223 exon43 c.324450+52C>T 0.279752 0.5635 0.140310 0.2343 0.5501 Uncertain 12_26834804_-->ACTC 12 26834804 26834804 - ACTC indel 10821.7 1/1 99 154 0 154 1.0 splicing rs111626763 ITPR2 AR NM_002223 exon45 c.342477-2insACTC 0.710264 0.7589 0.633088 0.6520 0.7601 Pathogenic 12_26835085_T->G 12 26835085 26835085 T G snp 269.8 1/1 21 9 0 9 1.0 intronic rs10842774 ITPR2 AR NM_002223 exon45 c.342638+118T>G 0.280351 0.5675 Uncertain 12_26835428_TG->- 12 26835428 26835429 TG - indel 7723.73 1/1 99 158 0 158 1.0 intronic rs3830262 ITPR2 AR NM_002223 exon46 c.343177-78_343177-77delTG 0.293131 0.5675 Uncertain 12_26848410_A->C 12 26848410 26848410 A C snp 365.77 1/1 30 11 0 11 1.0 intronic rs1982385 ITPR2 AR NM_002223 exon48 c.356209-128A>C 0.841653 0.8661 Uncertain 12_26848663_-->T 12 26848663 26848663 - T indel 768.73 1/1 57 20 0 20 1.0 intronic rs3830260 ITPR2 AR NM_002223 exon48 c.356254+80insT 0.834265 0.8671 0.819925 Uncertain 12_27059149_C->T 12 27059149 27059149 C T snp 1156.77 1/1 84 41 0 41 1.0 intronic rs1488053 ASUN AU NM_018164 exon2 c.805-85C>T 0.682308 0.9494 Uncertain 12_27059224_G->A 12 27059224 27059224 G A snp 2454.77 1/1 99 98 0 98 1.0 intronic rs1488052 ASUN AU NM_018164 exon2 c.805-10G>A 0.900359 1 0.820665 0.8202 0.9997 Uncertain 12_27059422_T->C 12 27059422 27059422 T C snp 289.78 1/1 24 8 0 8 1.0 intronic rs1488051 ASUN AU NM_018164 exon2 c.941+52T>C 0.682308 0.9494 0.628118 0.6454 0.9548 Uncertain 12_27064232_C->T 12 27064232 27064232 C T snp 3270.77 1/1 99 117 0 117 1.0 exonic rs3210635 ASUN AU synonymous SNV NM_018164 exon15 c.G1824A p.E608E 0.579273 0.7609 0.487312 0.5184 0.7885 Uncertain 12_27066350_C->T 12 27066350 27066350 C T snp 4088.77 1/1 99 140 0 140 1.0 intronic rs3736227 ASUN AU NM_018164 exon4 c.7960-39C>T 0.579273 0.7609 0.487158 0.5182 0.7892 Uncertain 12_27075705_A->T 12 27075705 27075705 A T snp 141.03 1/1 12 4 0 4 1.0 intronic rs7137176 ASUN AU NM_018164 exon10 c.17204+72A>T 0.589058 0.7609 Uncertain 12_27081071_T->C 12 27081071 27081071 T C snp 416.77 0/1 99 47 30 17 0.36 intronic ASUN AU NM_018164 exon13 c.22708-66T>C Uncertain 12_27081566_C->G 12 27081566 27081566 C G snp 536.77 1/1 42 16 0 16 1.0 intronic rs2029309 ASUN AU NM_018164 exon14 c.23206-69C>G 0.897165 1 Uncertain 12_27081873_G->A 12 27081873 27081873 G A snp 1447.77 1/1 99 53 0 53 1.0 intronic rs2029310 ASUN AU NM_018164 exon14 c.23409+35G>A 0.309105 0.4931 0.219855 0.2561 0.5176 Uncertain 12_27087703_T->C 12 27087703 27087703 T C snp 312.78 1/1 24 10 0 10 1.0 intronic rs708158 ASUN AU NM_018164 exon15 c.29134+140T>C 0.897165 1 Uncertain 12_27087733_C->T 12 27087733 27087733 C T snp 50.74 1/1 6 2 0 2 1.0 intronic rs708159 ASUN AU NM_018164 exon15 c.29134+170C>T 0.897564 1 Uncertain 12_27128594_-->T 12 27128594 27128594 - T indel 3060.73 0/1 99 198 108 90 0.45 splicing rs398098080 TM7SF3 AU NM_016551 exon2 c.1694+3insT 0.348842 0.4395 0.279313 0.2702 0.4239 Pathogenic 12_27132691_-->A 12 27132691 27132691 - A indel 1088.73 0/1 99 87 49 38 0.44 intronic rs143662680 TM7SF3 AU NM_016551 exon4 c.5819-25insA 0.171126 0.3333 0.156150 0.1932 0.3633 Uncertain 12_27135669_T->G 12 27135669 27135669 T G snp 1302.77 0/1 99 104 45 59 0.57 intronic rs74332145 TM7SF3 AU NM_016551 exon6 c.8808-36T>G 0.0992412 0.2093 0.062596 0.1205 0.2398 Uncertain 12_27143579_C->T 12 27143579 27143579 C T snp 1092.77 1/1 81 32 0 32 1.0 intronic rs12299714 TM7SF3 AU NM_016551 exon7 c.16663+19C>T 0.311102 0.4117 0.239274 0.2316 0.3868 Uncertain 12_27143632_C->T 12 27143632 27143632 C T snp 222.84 1/1 18 7 0 7 1.0 intronic rs35719635 TM7SF3 AU NM_016551 exon7 c.16663+72C>T 0.294728 0.4117 Uncertain 12_27152666_T->C 12 27152666 27152666 T C snp 1580.77 1/1 99 61 0 61 1.0 intronic rs7314394 TM7SF3 AU NM_016551 exon10 c.25712+57T>C 0.932907 0.999 Uncertain 12_27165684_G->A 12 27165684 27165684 G A snp 927.77 0/1 99 80 45 35 0.44 intronic rs12321522 TM7SF3 AU NM_016551 exon12 c.40113-1326G>A 0.155551 0.3095 0.1419 0.3409 Uncertain 12_27175494_T->C 12 27175494 27175494 T C snp 1788.77 1/1 99 62 0 62 1.0 UTR5 rs3963548 MED21 AU 0.932308 0.999 0.907350 0.9388 0.9996 Uncertain 12_27175640_A->G 12 27175640 27175640 A G snp 3449.77 1/1 99 129 0 129 1.0 intronic rs1872191 MED21 AU NM_001271811 exon1 c.42+86A>G 0.932308 0.999 0.9379 0.9998 Uncertain 12_27234505_A->T 12 27234505 27234505 A T snp 984.77 1/1 72 29 0 29 1.0 intronic rs34457591 C12orf71 AU NM_001080406 exon1 c.294+105A>T 0.521166 0.8591 Uncertain 12_27300420_T->C 12 27300420 27300420 T C snp 505.77 1/1 39 15 0 15 1.0 intergenic rs841618 C12orf71 AU 0.929313 0.999 Uncertain 12_27453653_G->C 12 27453653 27453653 G C snp 564.77 0/1 99 37 17 20 0.54 intronic rs7137459 STK38L AU NM_015000 exon3 c.4416-1416G>C 0.101238 0.3502 Uncertain 12_27461984_T->C 12 27461984 27461984 T C snp 182.9 1/1 15 6 0 6 1.0 intronic rs6487599 STK38L AU NM_015000 exon5 c.11393-62T>C 0.957069 0.999 Uncertain 12_27468313_A->G 12 27468313 27468313 A G snp 313.77 0/1 99 17 5 12 0.71 intronic rs2346053 STK38L AU NM_015000 exon9 c.17630+30A>G 0.357628 0.2956 0.329565 0.2788 0.3056 Uncertain 12_27470682_C->T 12 27470682 27470682 C T snp 497.77 0/1 99 31 11 20 0.65 intronic rs2242185 STK38L AU NM_015000 exon11 c.20175-146C>T 0.780751 0.7054 Uncertain 12_27470866_G->A 12 27470866 27470866 G A snp 3391.77 1/1 99 129 0 129 1.0 exonic rs6487601 STK38L AU synonymous SNV NM_015000 exon11 c.G993A p.T331T 0.984824 1 0.976780 0.9764 1 Uncertain 12_27486095_G->T 12 27486095 27486095 G T snp 324.77 0/1 99 35 19 16 0.46 intronic rs71524339 ARNTL2 AU NM_001248005 exon1 c.64+26G>T 0.103834 0.3671 0.05 0.5312 Uncertain 12_27486169_A->- 12 27486169 27486169 A - indel 326.75 1/1 24 8 0 8 1.0 intronic rs62758860 ARNTL2 AU NM_001248005 exon1 c.64+100delA 0.999401 1 Uncertain 12_27529194_G->C 12 27529194 27529194 G C snp 958.77 0/1 99 52 17 35 0.67 intronic rs77160129 ARNTL2 AU NM_020183 exon4 c.43273-84G>C 0.109824 0.2946 Uncertain 12_27529219_A->C 12 27529219 27529219 A C snp 677.77 0/1 99 73 47 26 0.36 intronic rs4964059 ARNTL2 AU NM_020183 exon4 c.43273-59A>C 0.276158 0.4484 0.297416 Uncertain 12_27553741_A->C 12 27553741 27553741 A C snp 916.77 1/1 69 31 1 30 0.97 ncRNA_intronic rs1037920 ARNTL2-AS1 AU 0.227835 0.4772 0.109632 0.1841 0.4722 Uncertain 12_27553794_C->T 12 27553794 27553794 C T snp 262.8 1/1 21 7 0 7 1.0 ncRNA_intronic rs2927028 ARNTL2-AS1 AU 0.992212 1 Uncertain 12_27623490_A->G 12 27623490 27623490 A G snp 2489.77 1/1 99 84 0 84 1.0 intronic rs776199 SMCO2 AU 0.996805 1 Uncertain 12_27625823_A->T 12 27625823 27625823 A T snp 5802.77 1/1 99 213 0 213 1.0 intronic rs386428 SMCO2 AU NM_001145010 exon3 c.2244+15A>T 0.742812 0.7321 0.7875 0.7199 Uncertain 12_27625879_G->A 12 27625879 27625879 G A snp 4128.77 1/1 99 138 0 138 1.0 intronic rs381905 SMCO2 AU NM_001145010 exon3 c.2244+71G>A 0.742812 0.7321 Uncertain 12_27625887_T->C 12 27625887 27625887 T C snp 3598.77 1/1 99 118 0 118 1.0 intronic rs401739 SMCO2 AU NM_001145010 exon3 c.2244+79T>C 0.742812 0.7321 Uncertain 12_27627805_G->A 12 27627805 27627805 G A snp 3762.77 1/1 99 140 0 140 1.0 exonic rs411816 SMCO2 AU synonymous SNV NM_001145010 exon4 c.G321A p.A107A 0.748802 0.7321 0.772887 0.7903 0.7219 Uncertain 12_27747046_G->T 12 27747046 27747046 G T snp 133.77 0/1 99 17 12 5 0.29 intronic rs117584921 PPFIBP1 AU 0.0239617 0.0149 Uncertain 12_27786115_C->T 12 27786115 27786115 C T snp 753.77 0/1 99 43 18 25 0.58 intronic rs3751231 PPFIBP1 AU 0.253195 0.1389 Uncertain 12_27786415_A->G 12 27786415 27786415 A G snp 40.77 0/1 69 5 3 2 0.4 intronic rs7965657 PPFIBP1 AU NM_001198916 exon3 c.64+22A>G 0.254393 0.1438 0.322159 0.3307 0.1317 Uncertain 12_27800503_T->C 12 27800503 27800503 T C snp 144.77 0/1 99 13 8 5 0.38 intronic rs7959186 PPFIBP1 AU NM_001198916 exon6 c.14332-158T>C 0.467053 0.5099 Uncertain 12_27800576_-->T 12 27800576 27800576 - T indel 1405.73 1/1 99 45 0 45 1.0 intronic rs34792131 PPFIBP1 AU NM_001198916 exon6 c.14332-85insT Uncertain 12_27800746_G->T 12 27800746 27800746 G T snp 2424.77 1/1 99 92 0 92 1.0 exonic rs2194816 PPFIBP1 AU nonsynonymous SNV NM_001198916 exon6 c.G442T p.V148L 0.994409 1 0.993541 0.9972 0.9993 1 T 0.000 P -0.651 T 0.0 T 0.0 T Pathogenic 12_27803264_G->A 12 27803264 27803264 G A snp 394.77 1/1 30 11 0 11 1.0 intronic rs4931223 PPFIBP1 AU NM_001198916 exon7 c.16745+190G>A 0.997404 1 Uncertain 12_27807906_G->A 12 27807906 27807906 G A snp 615.77 1/1 45 21 0 21 1.0 intronic rs7979973 PPFIBP1 AU NM_001198916 exon8 c.21418+159G>A 0.855032 0.999 Uncertain 12_27811649_G->T 12 27811649 27811649 G T snp 180.9 1/1 15 5 0 5 1.0 intronic rs10771354 PPFIBP1 AU NM_003622 exon10 c.25419-99G>T 0.904952 0.999 Uncertain 12_27813754_A->G 12 27813754 27813754 A G snp 928.77 1/1 69 32 0 32 1.0 intronic rs7132997 PPFIBP1 AU NM_001198916 exon10 c.27487-62A>G 0.996206 1 0.993649 Uncertain 12_27813903_C->T 12 27813903 27813903 C T snp 1738.77 1/1 99 61 0 61 1.0 intronic rs7133222 PPFIBP1 AU NM_001198916 exon10 c.27549+25C>T 0.995807 1 0.993465 0.9985 1 Uncertain 12_27813961_A->G 12 27813961 27813961 A G snp 1346.77 1/1 96 48 0 48 1.0 intronic rs7133231 PPFIBP1 AU NM_001198916 exon10 c.27549+83A>G 0.995807 1 Uncertain 12_27813973_C->T 12 27813973 27813973 C T snp 1216.77 1/1 87 44 0 44 1.0 intronic rs7133328 PPFIBP1 AU NM_001198916 exon10 c.27549+95C>T 0.995807 1 Uncertain 12_27813981_G->C 12 27813981 27813981 G C snp 1210.77 1/1 87 43 0 43 1.0 intronic rs7133545 PPFIBP1 AU NM_001198916 exon10 c.27549+103G>C 0.995807 1 Uncertain 12_27814085_C->T 12 27814085 27814085 C T snp 262.8 1/1 21 8 0 8 1.0 intronic rs6487629 PPFIBP1 AU NM_001198916 exon10 c.27549+207C>T 0.995807 1 Uncertain 12_27817409_T->- 12 27817409 27817409 T - indel 7070.73 1/1 99 182 0 182 1.0 intronic rs34613698 PPFIBP1 AU NM_003622 exon12 c.31050+30delT 0.475639 0.5367 0.421448 0.4802 0.6108 Uncertain 12_27820302_C->T 12 27820302 27820302 C T snp 935.77 1/1 69 29 0 29 1.0 intronic rs2033024 PPFIBP1 AU NM_001198916 exon12 c.33924+49C>T 0.930511 0.881 0.937798 0.9338 0.8937 Uncertain 12_27826780_T->G 12 27826780 27826780 T G snp 2281.77 1/1 99 87 0 87 1.0 intronic rs2052673 PPFIBP1 AU NM_001198916 exon15 c.40431+20T>G 0.778155 0.8294 0.757420 0.8336 0.8579 Uncertain 12_27832308_G->A 12 27832308 27832308 G A snp 472.77 1/1 36 12 0 12 1.0 intronic rs10743607 PPFIBP1 AU NM_001198916 exon18 c.46092-113G>A 0.967851 1 Uncertain 12_27845924_C->T 12 27845924 27845924 C T snp 1068.77 1/1 78 29 0 29 1.0 UTR3 rs3764010 PPFIBP1 AU 0.590256 0.6706 Uncertain 12_27849795_C->T 12 27849795 27849795 C T snp 4348.77 1/1 99 144 1 143 0.99 exonic rs929948 REP15 AU synonymous SNV NM_001029874 exon1 c.C300T p.S100S 0.596046 0.5268 0.621252 0.6137 0.5605 Uncertain 12_27849796_A->G 12 27849796 27849796 A G snp 4297.77 1/1 99 143 0 143 1.0 exonic rs929949 REP15 AU nonsynonymous SNV NM_001029874 exon1 c.A301G p.N101D 0.97484 1 0.972397 0.9917 1 1 T 0.0 P -0.973 T 0.0 T 0.0 T Pathogenic 12_27867706_C->T 12 27867706 27867706 C T snp 2668.77 1/1 99 91 0 91 1.0 intronic rs11049106 MRPS35 AU NM_021821 exon2 c.3936-6C>T 0.734625 0.6657 0.736506 0.6977 0.6808 Uncertain 12_27915718_A->T 12 27915718 27915718 A T snp 2490.77 1/1 99 84 0 84 1.0 exonic rs10842975 MANSC4 AU nonsynonymous SNV NM_001146221 exon3 c.T976A p.S326T 0.492212 0.4692 0.499124 0.4998 0.4865 0.31 T 0.0 P -0.929 T 0.455 P 0.146 P Pathogenic 12_28111319_-->A 12 28111319 28111319 - A indel 102.87 1/1 15 5 0 5 1.0 UTR3 rs34525777 PTHLH AU,AD 0.597045 0.5427 Uncertain 12_28114816_A->G 12 28114816 28114816 A G snp 236.77 0/1 99 15 6 9 0.6 intronic rs6248 PTHLH AU,AD NM_198966 exon2 c.4789-1464A>G 0.0720847 0.128 0.1452 0.2322 Uncertain 12_28115010_G->A 12 28115010 28115010 G A snp 108.77 0/1 99 14 10 4 0.29 intronic rs11049240 PTHLH AU,AD NM_198966 exon2 c.4789-1270G>A 0.0720847 0.128 Uncertain 12_28122657_CACAGC->- 12 28122657 28122662 CACAGC - indel 4479.73 0/1 99 132 71 61 0.46 intronic rs148094002 PTHLH AU,AD NM_198966 exon4 c.11122+44_11122+49delCACAGC 0.0221645 0.0724 0.002239 0.0144 0.0778 Uncertain 12_28122893_A->G 12 28122893 28122893 A G snp 1939.77 0/1 99 200 112 88 0.44 intronic rs6246 PTHLH AU,AD NM_198966 exon4 c.11403-1A>G 0.319089 0.3502 0.2948 0.3408 Uncertain 12_28412415_T->C 12 28412415 28412415 T C snp 1014.77 0/1 99 62 20 42 0.68 intronic rs11049489 CCDC91 AU NM_018318 exon2 c.2227+40T>C 0.334465 0.5516 0.2344 0.4293 Uncertain 12_28457618_A->C 12 28457618 28457618 A C snp 2062.77 1/1 99 79 0 79 1.0 intronic rs6487674 CCDC91 AU NM_018318 exon3 c.48433-963A>C 0.957069 1 0.9906 1 Uncertain 12_29444284_G->A 12 29444284 29444284 G A snp 1413.77 0/1 99 139 82 57 0.41 ncRNA_intronic rs7972032 LOC100506606 AU 0.484625 0.6498 Uncertain 12_29446477_-->A 12 29446477 29446477 - A indel 181.73 0/1 99 32 15 17 0.53 ncRNA_splicing rs10679359 LOC100506606 AU 0.560304 0.6677 Uncertain 12_29462224_C->G 12 29462224 29462224 C G snp 2732.77 1/1 99 97 0 97 1.0 ncRNA_intronic rs6487807 LOC100506606 AU 0.666933 0.6964 0.642668 Uncertain 12_29485449_G->A 12 29485449 29485449 G A snp 1424.77 1/1 99 52 0 52 1.0 intronic rs10743656 FAR2 AU NM_001271784 exon10 c.39198-83G>A 0.666534 0.6964 Uncertain 12_29486415_C->T 12 29486415 29486415 C T snp 254.8 1/1 21 7 0 7 1.0 intronic rs4930862 FAR2 AU NM_001271784 exon11 c.40230-149C>T 0.992412 1 Uncertain 12_29486745_T->C 12 29486745 29486745 T C snp 940.77 0/1 99 79 39 40 0.51 UTR3 rs1052583 FAR2 AU 0.44349 0.5754 0.434261 0.4410 0.5639 Uncertain 12_29501906_A->G 12 29501906 29501906 A G snp 227.84 1/1 18 8 0 8 1.0 intronic rs3815843 ERGIC2 AU NM_016570 exon5 c.7923-105A>G 0.357628 0.3095 Uncertain 12_29501941_A->G 12 29501941 29501941 A G snp 224.77 0/1 99 19 9 10 0.53 intronic rs3764952 ERGIC2 AU NM_016570 exon5 c.7923-70A>G 0.142173 0.1875 Uncertain 12_29509450_C->T 12 29509450 29509450 C T snp 868.77 1/1 63 30 0 30 1.0 intronic rs1035606 ERGIC2 AU NM_016570 exon7 c.15322+40C>T 0.410144 0.3631 0.387427 0.3288 0.3619 Uncertain 12_29509513_A->C 12 29509513 29509513 A C snp 222.84 1/1 18 6 0 6 1.0 intronic rs1035607 ERGIC2 AU NM_016570 exon7 c.15322+103A>C 0.383786 0.4474 Uncertain 12_29521193_A->G 12 29521193 29521193 A G snp 564.77 0/1 99 55 27 28 0.51 exonic rs12831730 ERGIC2 AU synonymous SNV NM_016570 exon4 c.T243C p.T81T 0.146765 0.1895 0.147079 0.1481 0.2033 Uncertain 12_29593769_A->- 12 29593769 29593769 A - indel 2317.73 1/1 99 55 0 55 1.0 ncRNA_intronic rs66808023 OVCH1-AS1 AU 0.239816 0.2411 Uncertain 12_29604392_C->G 12 29604392 29604392 C G snp 3099.77 1/1 99 114 0 114 1.0 exonic rs1347570 OVCH1 AU nonsynonymous SNV NM_183378 exon22 c.G2641C p.A881P 0.510583 0.4008 0.591956 0.5247 0.4170 1 T 0.0 P -0.957 T Pathogenic 12_29607931_T->C 12 29607931 29607931 T C snp 1236.77 1/1 93 45 0 45 1.0 ncRNA_intronic rs2060570 OVCH1-AS1 AU 0.513578 0.4107 Uncertain 12_29608449_T->C 12 29608449 29608449 T C snp 716.77 1/1 54 23 0 23 1.0 ncRNA_intronic rs1369904 OVCH1-AS1 AU 0.271166 0.3135 Uncertain 12_29614523_T->C 12 29614523 29614523 T C snp 31.77 0/1 60 6 4 2 0.33 ncRNA_intronic rs75696900 OVCH1-AS1 AU 0.0914537 0.0377 Uncertain 12_29628016_G->A 12 29628016 29628016 G A snp 1578.77 1/1 99 62 0 62 1.0 exonic rs2043623 OVCH1 AU synonymous SNV NM_183378 exon14 c.C1578T p.A526A 0.509984 0.3948 0.584119 0.5756 0.4955 Uncertain 12_29630081_G->A 12 29630081 29630081 G A snp 6055.77 1/1 99 208 0 208 1.0 exonic rs7975356 OVCH1 AU nonsynonymous SNV NM_183378 exon12 c.C1331T p.T444I 0.820887 0.9147 0.791784 0.8528 0.9222 0.54 T 0.0 P -1.003 T Pathogenic 12_29639186_T->C 12 29639186 29639186 T C snp 3191.82 1/1 99 130 0 130 1.0 exonic rs3847680 OVCH1 AU nonsynonymous SNV NM_183378 exon8 c.A988G p.K330E 0.615415 0.7331 0.607582 0.5685 0.7682 0.58 T 0.0 P -0.946 T 0.0 T 0.0 T Pathogenic 12_29642542_C->T 12 29642542 29642542 C T snp 1688.77 1/1 99 60 0 60 1.0 intronic rs967182 OVCH1 AU NM_183378 exon23 c.62049-10C>T 0.422324 0.5685 0.411109 0.4437 0.5793 Uncertain 12_29642573_A->C 12 29642573 29642573 A C snp 1910.77 1/1 99 68 0 68 1.0 exonic rs967181 OVCH1 AU nonsynonymous SNV NM_183378 exon6 c.T682G p.W228G 0.422524 0.5685 0.407172 0.4433 0.5814 1 T 0.0 P -0.962 T 0.0 T 0.0 T Pathogenic 12_29648275_G->A 12 29648275 29648275 G A snp 4052.77 1/1 99 137 0 137 1.0 exonic rs10843438 OVCH1 AU nonsynonymous SNV NM_183378 exon4 c.C397T p.R133C 0.447484 0.5347 0.467742 0.4826 0.5086 0.18 T 0.0 P -0.972 T 0.855 T 0.285 P Pathogenic 12_29650361_A->C 12 29650361 29650361 A C snp 368.77 1/1 30 11 0 11 1.0 intronic rs10771544 OVCH1 AU NM_183378 exon28 c.70052-194A>C 0.570288 0.6091 Uncertain 12_29650702_C->T 12 29650702 29650702 C T snp 1803.77 1/1 99 52 0 52 1.0 upstream rs822879 OVCH1 AU 0.974241 1 Uncertain 12_29650742_C->T 12 29650742 29650742 C T snp 218.77 0/1 99 14 7 7 0.5 upstream rs12826335 OVCH1 AU 0.0888578 0.122 Uncertain 12_29667659_G->A 12 29667659 29667659 G A snp 244.77 0/1 99 19 10 9 0.47 intronic rs299438 TMTC1 AU NM_001193451 exon3 c.7759+122G>A 0.333267 0.3413 Uncertain 12_29667680_A->G 12 29667680 29667680 A G snp 68.77 0/1 97 8 5 3 0.38 intronic rs299437 TMTC1 AU NM_001193451 exon3 c.7759+143A>G 0.34385 0.3413 Uncertain 12_29673735_C->A 12 29673735 29673735 C A snp 35.77 0/1 64 5 3 2 0.4 intronic TMTC1 AU NM_001193451 exon7 c.13875+82C>A Uncertain 12_29721945_C->T 12 29721945 29721945 C T snp 500.77 0/1 99 54 31 23 0.43 intronic rs2254945 TMTC1 AU NM_001193451 exon10 c.65259-3092C>T 0.490615 0.5208 0.6501 0.6136 Uncertain 12_29736480_A->G 12 29736480 29736480 A G snp 521.77 0/1 99 49 27 22 0.45 exonic rs2113879 TMTC1 AU synonymous SNV NM_001193451 exon8 c.T1278C p.H426H 0.370208 0.4623 0.312779 0.2887 0.4605 Uncertain 12_29736523_G->T 12 29736523 29736523 G T snp 345.77 0/1 99 26 13 13 0.5 intronic rs2288230 TMTC1 AU NM_001193451 exon11 c.76729+16G>T 0.315096 0.4623 0.262340 0.2881 0.4699 Uncertain 12_29736553_A->G 12 29736553 29736553 A G snp 142.77 0/1 99 10 5 5 0.5 intronic rs2113880 TMTC1 AU NM_001193451 exon11 c.76729+46A>G 0.370208 0.4623 0.310857 0.2846 0.4511 Uncertain 12_29936613_T->G 12 29936613 29936613 T G snp 527.77 1/1 39 22 0 22 1.0 exonic rs184221 TMTC1 AU synonymous SNV NM_001193451 exon1 c.A72C p.L24L 0.907149 0.999 0.9660 1 Uncertain 12_29936626_C->A 12 29936626 29936626 C A snp 527.77 1/1 39 22 0 22 1.0 exonic rs654825 TMTC1 AU nonsynonymous SNV NM_001193451 exon1 c.G59T p.R20L 0.208267 0.2986 0.3608 1 1.000 P -1.014 T Pathogenic 12_30809492_G->A 12 30809492 30809492 G A snp 59.74 1/1 6 3 0 3 1.0 intronic rs7974489 IPO8 AU NM_001190995 exon9 c.25824-125G>A 0.964457 1 Uncertain 12_30815157_A->T 12 30815157 30815157 A T snp 863.77 1/1 63 23 0 23 1.0 intronic rs2118780 IPO8 AU NM_001190995 exon11 c.31467-103A>T 0.975439 1 Uncertain 12_30819157_G->A 12 30819157 30819157 G A snp 346.77 0/1 99 28 13 15 0.54 exonic rs2304627 IPO8 AU synonymous SNV NM_001190995 exon7 c.C558T p.T186T 0.00159744 0.0079 0.0005 0.0059 Uncertain 12_30906875_C->T 12 30906875 30906875 C T snp 44.74 1/1 6 2 0 2 1.0 UTR5 rs33255 CAPRIN2 AU 1 1 Uncertain 12_30948848_G->C 12 30948848 30948848 G C snp 586.77 0/1 99 57 30 27 0.47 ncRNA_exonic rs256653 LINC00941 AU 0.574481 0.4772 Uncertain 12_31106803_C->A 12 31106803 31106803 C A snp 38.77 0/1 33 3 1 2 0.67 intronic rs2075363 TSPAN11 AU 0.138578 0.3998 Uncertain 12_31107131_A->G 12 31107131 31107131 A G snp 2093.77 0/1 99 155 66 89 0.57 intronic rs7485934 TSPAN11 AU NM_001080509 exon2 c.84+122A>G 0.180312 0.4812 Uncertain 12_31131712_T->C 12 31131712 31131712 T C snp 1504.77 1/1 99 47 0 47 1.0 intronic rs35097 TSPAN11 AU NM_001080509 exon4 c.24645+142T>C 0.898163 0.9058 Uncertain 12_31132479_A->C 12 31132479 31132479 A C snp 3631.77 1/1 99 134 0 134 1.0 intronic rs35096 TSPAN11 AU NM_001080509 exon5 c.25575-21A>C 0.946885 0.9058 0.960864 0.9535 0.8976 Uncertain 12_31135418_C->A 12 31135418 31135418 C A snp 576.77 0/1 99 54 26 28 0.52 intronic rs2075332 TSPAN11 AU NM_001080509 exon6 c.28541-48C>A 0.157748 0.2093 0.147163 0.1247 0.2223 Uncertain 12_31135478_T->C 12 31135478 31135478 T C snp 1714.77 1/1 99 63 0 63 1.0 exonic rs35089 TSPAN11 AU synonymous SNV NM_001080509 exon6 c.T468C p.C156C 0.951478 0.9673 0.952916 0.9573 0.9595 Uncertain 12_31135579_T->C 12 31135579 31135579 T C snp 1443.77 1/1 99 50 0 50 1.0 exonic rs2075333 TSPAN11 AU nonsynonymous SNV NM_001080509 exon6 c.T569C p.V190A 0.707668 0.7242 0.664767 0.7180 0.7096 0.89 T 0.0 P -0.965 T 0.0 T 0.002 T Pathogenic 12_31135905_A->T 12 31135905 31135905 A T snp 227.84 1/1 18 7 0 7 1.0 intronic rs888473 TSPAN11 AU NM_001080509 exon7 c.29073-93A>T 0.686302 0.7302 Uncertain 12_31135925_G->A 12 31135925 31135925 G A snp 230.77 0/1 99 15 6 9 0.6 intronic rs75495170 TSPAN11 AU NM_001080509 exon7 c.29073-73G>A 0.0728834 0.1508 Uncertain 12_31144884_A->G 12 31144884 31144884 A G snp 2104.77 0/1 99 183 91 92 0.5 UTR3 rs35076 TSPAN11 AU 0.569289 0.9425 0.377518 0.4544 0.9364 Uncertain 12_31145010_-->CTA 12 31145010 31145010 - CTA indel 1175.73 1/1 60 22 0 22 1.0 UTR3 rs10699082 TSPAN11 AU 0.970447 0.9901 Uncertain 12_31145029_A->G 12 31145029 31145029 A G snp 101.77 0/1 99 8 4 4 0.5 UTR3 rs35075 TSPAN11 AU 0.541933 0.9425 Uncertain 12_31231138_G->T 12 31231138 31231138 G T snp 531.77 0/1 99 43 19 24 0.56 intronic rs77842499 DDX11 AR 0.0355431 0.1438 0.0248 0.1944 0 D 1 N -1.038 T Uncertain 12_31237026_A->G 12 31237026 31237026 A G snp 1209.77 0/1 99 98 43 55 0.56 intronic rs2553134 DDX11 AR NM_004399 exon3 c.5668+31A>G 0.628594 0.8095 0.417708 0.4971 0.8017 Uncertain 12_31237372_A->T 12 31237372 31237372 A T snp 213.77 0/1 99 26 16 10 0.38 intronic rs3930906 DDX11 AR NM_004399 exon4 c.6189-144A>T 0.627396 0.8095 Uncertain 12_31237693_C->T 12 31237693 31237693 C T snp 638.77 0/1 99 61 28 33 0.54 intronic rs79540602 DDX11 AR NM_004399 exon4 c.6276+90C>T 0.0936502 0.1677 0.0633 0.1831 Uncertain 12_31237700_G->A 12 31237700 31237700 G A snp 679.77 0/1 99 60 28 32 0.53 intronic rs3881296 DDX11 AR NM_004399 exon4 c.6276+97G>A 0.627995 0.8095 0.5357 0.7986 Uncertain 12_31238075_G->A 12 31238075 31238075 G A snp 75.77 0/1 63 6 2 4 0.67 intronic rs4931428 DDX11 AR NM_004399 exon5 c.6733+15G>A 0.627796 0.8085 0.525277 0.5343 0.7948 Uncertain 12_31240862_A->T 12 31240862 31240862 A T snp 703.77 0/1 99 74 42 32 0.43 intronic rs7308754 DDX11 AR NM_004399 exon6 c.9544-9A>T 0.629393 0.8085 0.4951 0.7812 Uncertain 12_31240925_A->G 12 31240925 31240925 A G snp 1232.77 0/1 99 122 66 56 0.46 intronic rs7308773 DDX11 AR NM_004399 exon6 c.9590+8A>G 0.632987 0.8095 0.527603 0.5076 0.8021 Uncertain 12_31240960_G->A 12 31240960 31240960 G A snp 1366.77 0/1 99 117 54 63 0.54 intronic rs7309189 DDX11 AR NM_004399 exon6 c.9590+43G>A 0.632987 0.8095 0.530294 0.5144 0.8070 Uncertain 12_31242271_G->A 12 31242271 31242271 G A snp 983.77 0/1 99 82 43 39 0.48 intronic rs2005896 DDX11 AR NM_004399 exon8 c.11009-65G>A Uncertain 12_31242314_T->C 12 31242314 31242314 T C snp 1115.77 0/1 99 116 66 50 0.43 intronic rs2005897 DDX11 AR NM_004399 exon8 c.11009-22T>C 0.447332 0.3881 0.5085 Uncertain 12_31242399_T->C 12 31242399 31242399 T C snp 1925.77 0/1 99 175 94 81 0.46 exonic rs3881298 DDX11 AR synonymous SNV NM_030653 exon8 c.T855C p.C285C 0.645567 0.7748 0.519529 0.5214 0.7623 Uncertain 12_31242440_A->G 12 31242440 31242440 A G snp 1521.77 0/1 99 142 74 68 0.48 intronic rs2075318 DDX11 AR NM_004399 exon8 c.11097+16A>G 0.60643 0.7629 0.515690 0.4790 0.7216 Uncertain 12_31244592_G->A 12 31244592 31244592 G A snp 53.77 0/1 82 14 11 3 0.21 intronic rs9788173 DDX11 AR NM_004399 exon10 c.13325-60G>A 0.472843 0.5754 Uncertain 12_31244601_G->C 12 31244601 31244601 G C snp 54.77 0/1 83 17 13 4 0.24 intronic rs4031292 DDX11 AR NM_004399 exon10 c.13325-51G>C Uncertain 12_31244619_C->T 12 31244619 31244619 C T snp 157.77 0/1 99 29 21 8 0.28 intronic rs61917221 DDX11 AR NM_004399 exon10 c.13325-33C>T 0.0051 0.0075 Uncertain 12_31244665_C->T 12 31244665 31244665 C T snp 49.77 0/1 78 104 90 14 0.13 exonic rs201612562 DDX11 AR nonsynonymous SNV NM_030653 exon10 c.C1102T p.P368S 0.0223642 0.0337 0.0002 0.0005 0.01 T 1 D -0.338 T 1.0 D 0.998 D ID=COSM3954641,COSM3954642;OCCURENCE=1(lung) Pathogenic 12_31244703_C->T 12 31244703 31244703 C T snp 306.77 0/1 99 163 124 39 0.24 exonic rs374684190 DDX11 AR synonymous SNV NM_030653 exon10 c.C1140T p.A380A 0.0131 0.0267 Uncertain 12_31244809_T->C 12 31244809 31244809 T C snp 63.77 0/1 92 177 155 22 0.12 splicing rs2111769 DDX11 AR NM_004399 exon10 c.13478+4T>C Pathogenic 12_31244821_C->T 12 31244821 31244821 C T snp 1825.77 0/1 99 162 78 84 0.52 intronic rs369752419 DDX11 AR NM_004399 exon10 c.13478+16C>T 0.00319489 0.0159 0.0014 0.0195 Uncertain 12_31244846_C->G 12 31244846 31244846 C G snp 1601.77 0/1 99 127 55 72 0.57 intronic rs1808348 DDX11 AR NM_004399 exon10 c.13478+41C>G 0.635184 0.8095 0.515560 0.5263 0.8164 Uncertain 12_31244924_G->A 12 31244924 31244924 G A snp 519.77 0/1 99 22 7 15 0.68 intronic rs1808349 DDX11 AR NM_004399 exon10 c.13478+119G>A 0.632788 0.8095 Uncertain 12_31245741_A->G 12 31245741 31245741 A G snp 670.77 0/1 99 63 33 30 0.48 intronic rs2075321 DDX11 AR NM_004399 exon11 c.14452-38A>G 0.632788 0.8095 0.5236 0.8154 Uncertain 12_31246371_C->T 12 31246371 31246371 C T snp 898.77 0/1 99 54 25 29 0.54 intronic rs10843882 DDX11 AR NM_004399 exon12 c.14931+113C>T 0.632588 0.8095 0.5619 0.8218 Uncertain 12_31246438_T->C 12 31246438 31246438 T C snp 348.77 0/1 46 12 2 10 0.83 intronic rs7970074 DDX11 AR NM_004399 exon12 c.14931+180T>C 0.658347 0.8125 Uncertain 12_31246448_G->A 12 31246448 31246448 G A snp 198.77 0/1 58 8 2 6 0.75 intronic rs7955366 DDX11 AR NM_004399 exon12 c.14931+190G>A Uncertain 12_31247682_T->C 12 31247682 31247682 T C snp 1081.77 0/1 99 250 180 70 0.28 intronic rs61917225 DDX11 AR NM_004399 exon14 c.16361-6T>C 0.0500 0.0310 Uncertain 12_31249244_T->A 12 31249244 31249244 T A snp 110.77 0/1 99 85 71 14 0.16 intronic rs9788048 DDX11 AR NM_004399 exon15 c.17947-30T>A 0.1644 0.4067 Uncertain 12_31249542_T->C 12 31249542 31249542 T C snp 50.74 1/1 6 2 0 2 1.0 intronic rs73290434 DDX11 AR NM_004399 exon16 c.18243-28T>C 0.0802716 0.1528 0.048055 0.0479 0.1658 Uncertain 12_31249861_C->G 12 31249861 31249861 C G snp 1898.77 0/1 99 183 100 83 0.45 exonic rs2075322 DDX11 AR nonsynonymous SNV NM_030653 exon17 c.C1699G p.Q567E 0.641174 0.8294 0.529832 0.5273 0.8386 1 T 1.000 P -0.958 T 0.0 T 0.0 T Pathogenic 12_31250768_C->T 12 31250768 31250768 C T snp 644.77 0/1 99 118 77 41 0.35 intronic rs2909388 DDX11 AR NM_004399 exon18 c.19491-50C>T 0.2367 0.5945 Uncertain 12_31251070_G->A 12 31251070 31251070 G A snp 38.77 0/1 33 3 1 2 0.67 intronic rs2909390 DDX11 AR NM_004399 exon18 c.19604+139G>A Uncertain 12_31253544_G->A 12 31253544 31253544 G A snp 176.77 0/1 99 116 98 18 0.16 intronic rs61918669 DDX11 AR NM_004399 exon19 c.22241-24G>A 0.0024 0.0015 Uncertain 12_31253995_C->T 12 31253995 31253995 C T snp 3085.77 0/1 99 250 111 139 0.56 exonic rs1046456 DDX11 AR synonymous SNV NM_030653 exon20 c.C1983T p.L661L 0.628395 0.8065 0.527295 0.5259 0.8130 Uncertain 12_31254642_T->A 12 31254642 31254642 T A snp 62.77 0/1 91 12 9 3 0.25 intronic rs7952861 DDX11 AR NM_001257145 exon21 c.23361-124T>A 0.633986 0.8065 Uncertain 12_31254701_G->T 12 31254701 31254701 G T snp 565.77 0/1 99 52 28 24 0.46 intronic rs7966366 DDX11 AR NM_001257145 exon21 c.23361-65G>T 0.616613 0.7877 Uncertain 12_31254752_C->T 12 31254752 31254752 C T snp 736.77 0/1 99 78 44 34 0.44 intronic rs7966272 DDX11 AR NM_001257145 exon21 c.23361-14C>T 0.634585 0.8075 0.532312 0.5268 0.8137 Uncertain 12_31255263_G->A 12 31255263 31255263 G A snp 2100.77 0/1 99 188 94 94 0.5 intronic rs10771803 DDX11 AR NM_004399 exon21 c.23918+18G>A 0.661142 0.8105 0.512456 0.5334 0.8154 0.0 P -1.019 T Uncertain 12_31255405_C->T 12 31255405 31255405 C T snp 1312.77 0/1 99 131 76 55 0.42 exonic rs77340729 DDX11 AR synonymous SNV NM_030653 exon23 c.C2316T p.L772L 0.0792732 0.1508 0.048285 0.0444 0.1536 1.000 P -1.054 T Likely benign 12_31255772_-->G 12 31255772 31255772 - G indel 337.73 0/1 99 24 13 11 0.46 intronic rs397715359 DDX11 AR NM_004399 exon23 c.24542-97insG 0.633986 0.8065 Uncertain 12_31256075_G->A 12 31256075 31256075 G A snp 56.77 0/1 85 15 12 3 0.2 intronic rs3825318 DDX11 AR NM_004399 exon23 c.24627+121G>A 0.634385 0.8075 Uncertain 12_31256342_G->A 12 31256342 31256342 G A snp 44.77 0/1 33 3 1 2 0.67 intronic rs3925641 DDX11 AR NM_004399 exon24 c.25002+13G>A 0.634385 0.8075 0.549657 0.5727 0.8289 Uncertain 12_31256368_G->T 12 31256368 31256368 G T snp 113.77 0/1 99 10 5 5 0.5 intronic rs3925642 DDX11 AR NM_004399 exon24 c.25002+39G>T 0.632188 0.8075 0.534994 0.5632 0.8252 Uncertain 12_31256546_G->A 12 31256546 31256546 G A snp 1200.77 0/1 99 115 63 52 0.45 exonic rs1046457 DDX11 AR nonsynonymous SNV NM_030653 exon26 c.G2572A p.V858I 0.634185 0.8075 0.498230 0.5095 0.7983 0.11 T 1.000 P -0.942 T 0.0 T 0.0 T Pathogenic 12_31256905_T->C 12 31256905 31256905 T C snp 524.77 0/1 99 58 31 27 0.47 UTR3 rs1046458 DDX11 AR 0.638379 0.8105 0.4082 0.6512 0.000 P -0.962 T 0.0 T 0.0 T Uncertain 12_31256995_G->A 12 31256995 31256995 G A snp 306.77 0/1 99 20 7 13 0.65 UTR3 rs11545332 DDX11 AR 0.154553 0.1012 0.185572 0.2505 0.1016 Uncertain 12_31264743_C->T 12 31264743 31264743 C T snp 471.77 0/1 99 27 6 21 0.78 intergenic rs4930953 DDX11 AR 0.64377 0.8294 Uncertain 12_31264770_A->G 12 31264770 31264770 A G snp 230.77 0/1 99 14 5 9 0.64 intergenic rs1053552 DDX11 AR 0.64357 0.8294 Uncertain 12_31265872_C->T 12 31265872 31265872 C T snp 128.77 0/1 99 42 34 8 0.19 intergenic rs2302849 DDX11 AR 0.63738 0.8284 Uncertain 12_31265925_C->G 12 31265925 31265925 C G snp 350.77 0/1 99 73 54 19 0.26 intergenic rs2302850 DDX11 AR 0.63738 0.8284 Uncertain 12_31265983_G->A 12 31265983 31265983 G A snp 394.77 0/1 99 82 59 23 0.28 intergenic rs1053534 DDX11 AR 0.63758 0.8294 Uncertain 12_31266042_C->T 12 31266042 31266042 C T snp 226.77 0/1 99 42 29 13 0.31 intergenic rs2302853 DDX11 AR 0.63758 0.8294 Uncertain 12_31267744_A->C 12 31267744 31267744 A C snp 876.77 0/1 99 77 35 42 0.55 intergenic rs7968684 DDX11 AR 0.637181 0.8294 0.5091 0.8333 Uncertain 12_31269189_-->ATCAT 12 31269189 31269189 - ATCAT indel 735.73 0/1 99 38 27 11 0.29 intergenic rs10665556 DDX11 AR 0.634585 0.8274 Uncertain 12_31269949_C->T 12 31269949 31269949 C T snp 571.77 0/1 99 52 27 25 0.48 intergenic rs189937212 DDX11 AR 0.000798722 0.004 0.0003 0.0037 Uncertain 12_31270076_A->C 12 31270076 31270076 A C snp 408.77 0/1 99 70 51 19 0.27 intergenic rs58035829 DDX11 AR 0.1317 0.3205 Uncertain 12_31270149_G->C 12 31270149 31270149 G C snp 184.77 0/1 99 37 27 10 0.27 intergenic rs7316147 DDX11 AR 0.002309 0.3743 0.6310 Uncertain 12_31270150_C->A 12 31270150 31270150 C A snp 64.77 0/1 93 36 27 9 0.25 intergenic rs7315923 DDX11 AR 0.000770 0.3739 0.6309 Uncertain 12_31270171_T->C 12 31270171 31270171 T C snp 845.77 1/1 66 29 0 29 1.0 intergenic rs7301557 DDX11 AR 0.736621 0.9256 0.4995 0.7849 Uncertain 12_31282765_A->T 12 31282765 31282765 A T snp 548.77 0/1 99 87 59 28 0.32 intergenic rs2536839 DDX11 AR 0.4215 0.4711 Uncertain 12_31282784_A->G 12 31282784 31282784 A G snp 616.77 0/1 99 92 60 32 0.35 intergenic rs35666624 DDX11 AR 0.508586 0.6349 0.5065 0.5890 Uncertain 12_31283446_T->G 12 31283446 31283446 T G snp 1144.77 1/1 52 49 6 43 0.88 intergenic rs61918729 DDX11 AR 0.261382 0.4137 0.201745 0.2939 0.4536 Uncertain 12_31285101_A->G 12 31285101 31285101 A G snp 457.77 0/1 99 33 18 15 0.45 intergenic rs2933405 DDX11 AR 0.84345 0.9325 Uncertain 12_31285169_A->T 12 31285169 31285169 A T snp 1283.77 0/1 99 119 62 57 0.48 intergenic rs2287449 DDX11 AR 0.628395 0.5655 0.666949 0.7198 0.6204 Uncertain 12_31286189_T->C 12 31286189 31286189 T C snp 749.77 0/1 99 104 64 40 0.38 intergenic rs3844571 DDX11 AR 0.901957 0.9335 Uncertain 12_31288835_-->A 12 31288835 31288835 - A indel 479.73 0/1 99 31 16 15 0.48 intergenic rs200865477 DDX11 AR 0.463259 0.4256 Uncertain 12_31288884_G->T 12 31288884 31288884 G T snp 725.77 0/1 99 72 40 32 0.44 intergenic rs4931444 DDX11 AR 0.902955 0.9335 0.911650 0.9259 0.9227 Uncertain 12_31297722_C->T 12 31297722 31297722 C T snp 123.78 0/1 27 6 1 5 0.83 intergenic rs55758709 DDX11 AR 0.646565 0.6657 Uncertain 12_31297871_G->C 12 31297871 31297871 G C snp 1235.77 0/1 99 131 74 57 0.44 intergenic rs12309295 DDX11 AR 0.625399 0.6647 0.664781 0.6931 0.6708 Uncertain 12_31298250_A->G 12 31298250 31298250 A G snp 76.77 0/1 99 36 24 12 0.33 intergenic rs2536876 DDX11 AR Uncertain 12_31298463_G->T 12 31298463 31298463 G T snp 34.77 0/1 63 184 133 51 0.28 intergenic rs2639039 DDX11 AR 0.0037 0.0128 Uncertain 12_31300754_T->C 12 31300754 31300754 T C snp 1145.77 0/1 99 107 55 52 0.49 intergenic rs116358569 DDX11 AR 0.61901 0.6399 Uncertain 12_31300891_C->A 12 31300891 31300891 C A snp 2788.77 0/1 99 250 130 120 0.48 intergenic rs4082530 DDX11 AR 0.629792 0.6647 0.668355 0.6997 0.6703 Uncertain 12_31302516_T->A 12 31302516 31302516 T A snp 37.77 0/1 66 6 4 2 0.33 intergenic rs3927141 DDX11 AR 0.292332 0.4097 Uncertain 12_31310808_T->C 12 31310808 31310808 T C snp 729.77 0/1 99 37 11 26 0.7 intergenic rs6487980 DDX11 AR 0.139976 0.1141 Uncertain 12_31311075_C->T 12 31311075 31311075 C T snp 1334.77 0/1 99 83 31 52 0.63 intergenic rs7953222 DDX11 AR 0.139976 0.1141 Uncertain 12_31359159_-->AATGGTAA 12 31359159 31359159 - AATGGTAA indel 4764.73 1/1 99 69 0 69 1.0 intergenic rs3065666 DDX11 AR 0.534345 0.7093 0.466869 Uncertain 12_31359210_A->G 12 31359210 31359210 A G snp 470.77 1/1 36 13 0 13 1.0 intergenic rs2164498 DDX11 AR 0.879193 0.8552 Uncertain 12_31476942_AAGT->- 12 31476942 31476945 AAGT - indel 563.73 0/1 99 34 21 13 0.38 intronic rs3214606 FAM60A AU NM_001135811 exon7 c.43312-2015_43312-2012delAAGT 0.0535144 0.1994 0.0379 0.1894 Uncertain 12_31539122_A->G 12 31539122 31539122 A G snp 1749.77 0/1 99 146 73 73 0.5 UTR3 rs3741877 DENND5B AU 0.460863 0.5774 Uncertain 12_31542191_A->G 12 31542191 31542191 A G snp 820.77 0/1 99 45 15 30 0.67 intronic rs10843937 DENND5B AU NM_144973 exon2 c.1721-66A>G 0.470847 0.5764 Uncertain 12_31545103_T->C 12 31545103 31545103 T C snp 210.84 1/1 18 6 0 6 1.0 intronic rs708218 DENND5B AU NM_144973 exon3 c.4664-97T>C 0.921126 0.994 Uncertain 12_31545381_A->G 12 31545381 31545381 A G snp 1760.77 1/1 99 58 0 58 1.0 intronic rs792874 DENND5B AU NM_144973 exon3 c.4791+54A>G 0.921126 0.994 Uncertain 12_31545682_A->G 12 31545682 31545682 A G snp 3888.77 1/1 99 147 0 147 1.0 intronic rs7975761 DENND5B AU NM_144973 exon4 c.5094+52A>G 0.657748 0.8244 0.554071 Uncertain 12_31551350_C->T 12 31551350 31551350 C T snp 813.77 1/1 60 30 0 30 1.0 intronic rs1798769 DENND5B AU NM_144973 exon5 c.10760+54C>T 0.920927 0.994 Uncertain 12_31555611_G->A 12 31555611 31555611 G A snp 940.77 0/1 99 69 34 35 0.51 intronic rs16918614 DENND5B AU NM_144973 exon7 c.15041+34G>A 0.124601 0.248 0.085253 0.1240 0.2582 Uncertain 12_31555688_G->T 12 31555688 31555688 G T snp 309.78 1/1 24 10 0 10 1.0 intronic rs708199 DENND5B AU NM_144973 exon7 c.15041+111G>T 0.920727 0.994 Uncertain 12_31562177_G->A 12 31562177 31562177 G A snp 1172.77 0/1 99 115 62 53 0.46 intronic rs16918627 DENND5B AU NM_144973 exon8 c.21660-19G>A 0.125 0.248 0.082536 0.1739 0.3591 Uncertain 12_31562360_A->- 12 31562360 31562360 A - indel 234.76 1/1 22 26 2 24 0.92 intronic rs111670680 DENND5B AU NM_144973 exon8 c.21782+42delA 0.4279 0.4618 Uncertain 12_31568221_C->T 12 31568221 31568221 C T snp 2197.77 1/1 99 77 0 77 1.0 intronic rs793159 DENND5B AU NM_144973 exon10 c.27764-79C>T 0.916733 0.994 Uncertain 12_31579078_G->C 12 31579078 31579078 G C snp 224.84 1/1 18 6 0 6 1.0 intronic rs7962896 DENND5B AU NM_144973 exon13 c.38690-148G>C 0.653554 0.8244 Uncertain 12_31600400_G->A 12 31600400 31600400 G A snp 647.77 1/1 48 18 0 18 1.0 intronic rs7976644 DENND5B AU NM_144973 exon16 c.59935-71G>A 0.653954 0.8244 Uncertain 12_31604928_G->C 12 31604928 31604928 G C snp 2901.77 0/1 99 242 114 128 0.53 exonic rs3205175 DENND5B AU synonymous SNV NM_144973 exon5 c.C1575G p.A525A 0.176318 0.247 0.135126 0.1383 0.2571 Uncertain 12_31605044_G->T 12 31605044 31605044 G T snp 2868.77 0/1 99 244 126 118 0.48 exonic rs1056320 DENND5B AU nonsynonymous SNV NM_144973 exon5 c.C1459A p.H487N 0.177316 0.247 0.134932 0.1386 0.2571 0.46 T 0.002 P -1.030 T 0.006 T 0.026 T Pathogenic 12_31613471_A->G 12 31613471 31613471 A G snp 80.77 0/1 69 5 2 3 0.6 intronic rs10843954 DENND5B AU NM_144973 exon18 c.72779+156A>G 0.461462 0.5734 Uncertain 12_31632449_T->C 12 31632449 31632449 T C snp 314.77 0/1 99 20 8 12 0.6 intronic rs3741878 DENND5B AU NM_144973 exon19 c.91986-73T>C 0.436901 0.5734 Uncertain 12_31633258_-->T 12 31633258 31633258 - T indel 341.73 1/1 36 16 0 16 1.0 intronic rs113784337 DENND5B AU NM_144973 exon19 c.92653+69insT 0.654553 0.8234 Uncertain 12_31648723_G->A 12 31648723 31648723 G A snp 4242.77 1/1 99 155 0 155 1.0 intronic rs4931506 DENND5B AU NM_144973 exon20 c.108207-20G>A 0.637181 0.8234 0.528608 0.6254 0.8373 Uncertain 12_31648729_A->- 12 31648729 31648729 A - indel 2735.73 0/1 99 161 64 97 0.6 intronic rs143241018 DENND5B AU NM_144973 exon20 c.108207-14delA 0.5966 0.5929 Uncertain 12_31648826_C->T 12 31648826 31648826 C T snp 2167.77 0/1 99 181 85 96 0.53 exonic rs4930979 DENND5B AU nonsynonymous SNV NM_144973 exon2 c.G155A p.R52K 0.396565 0.5734 0.316534 0.4553 0.5885 0.26 T 1.000 P -0.949 T 0.004 T 0.03 T Pathogenic 12_31648948_G->A 12 31648948 31648948 G A snp 596.77 1/1 45 16 0 16 1.0 intronic rs4931507 DENND5B AU NM_144973 exon20 c.108317+95G>A 0.63738 0.8234 Uncertain 12_31693975_-->A 12 31693975 31693975 - A indel 971.73 1/1 99 41 0 41 1.0 intronic rs34225458 DENND5B AU NM_144973 exon20 c.108317+45122insA 0.640974 0.6766 0.5774 0.6413 Uncertain 12_31814741_G->C 12 31814741 31814741 G C snp 82.77 0/1 99 8 4 4 0.5 intronic rs7959989 METTL20 AU 0.846446 0.7331 Uncertain 12_31826791_T->C 12 31826791 31826791 T C snp 442.77 0/1 99 20 7 13 0.65 intronic rs73090331 AMN1 AU NM_001278411 exon1 c.74+1480T>C 0.157348 0.1667 Uncertain 12_31850220_C->T 12 31850220 31850220 C T snp 960.77 1/1 72 26 0 26 1.0 intronic rs2388926 AMN1 AU NM_001278411 exon3 c.25057-74C>T 0.71266 0.8681 Uncertain 12_31850283_T->C 12 31850283 31850283 T C snp 925.77 0/1 99 100 57 43 0.43 intronic rs74744848 AMN1 AU NM_001278411 exon3 c.25057-11T>C 0.0411342 0.0536 0.032668 0.0458 0.0452 Uncertain 12_31862107_-->A 12 31862107 31862107 - A indel 31.73 0/1 69 17 12 5 0.29 intronic rs535092181 AMN1 AU NM_001278411 exon6 c.36989-119insA 0.2211 0.2492 Uncertain 12_31907578_A->G 12 31907578 31907578 A G snp 162.9 1/1 15 5 0 5 1.0 intergenic rs10771867 AMN1 AU 0.970847 1 Uncertain 12_31907897_G->A 12 31907897 31907897 G A snp 586.77 0/1 99 45 25 20 0.44 intergenic rs148572966 AMN1 AU 0.00439297 0.0208 Uncertain 12_31908050_A->C 12 31908050 31908050 A C snp 5236.77 1/1 99 190 0 190 1.0 intergenic rs6488005 AMN1 AU 0.953874 1 Uncertain 12_31944985_T->G 12 31944985 31944985 T G snp 3208.76 0/1 99 249 121 128 0.51 exonic rs3759295 H3F3C AU nonsynonymous SNV NM_001013699 exon1 c.A116C p.H39P 0.0836661 0.125 0.058281 0.0751 0.1408 0 D 0.400 P -1.025 T 0.006 T 0.028 T Pathogenic 12_32134240_C->T 12 32134240 32134240 C T snp 3938.77 0/1 99 249 103 146 0.59 exonic rs2388982 KIAA1551 AU synonymous SNV NM_018169 exon4 c.C351T p.N117N 0.725839 0.7827 0.697601 0.7174 0.8002 Uncertain 12_32134638_T->C 12 32134638 32134638 T C snp 2669.77 0/1 99 228 119 109 0.48 exonic rs2166807 KIAA1551 AU nonsynonymous SNV NM_018169 exon4 c.T749C p.L250P 0.840256 0.8244 0.817161 0.8123 0.8320 0.0 P -1.022 T 0.0 T 0.0 T Pathogenic 12_32134943_A->G 12 32134943 32134943 A G snp 1561.77 0/1 99 144 84 60 0.42 exonic rs10771894 KIAA1551 AU nonsynonymous SNV NM_018169 exon4 c.A1054G p.S352G 0.35024 0.3135 0.387283 0.3681 0.3136 0.0 P -0.915 T 0.0 T 0.0 T Pathogenic 12_32135441_T->C 12 32135441 32135441 T C snp 3126.77 0/1 99 250 130 120 0.48 exonic rs3759301 KIAA1551 AU nonsynonymous SNV NM_018169 exon4 c.T1552C p.S518P 0.945088 0.8839 0.958019 0.9442 0.8921 0.0 P -1.037 T 0.0 T 0.0 T Pathogenic 12_32137447_C->T 12 32137447 32137447 C T snp 1308.77 0/1 99 125 69 56 0.45 exonic rs3759300 KIAA1551 AU synonymous SNV NM_018169 exon4 c.C3558T p.P1186P 0.123802 0.2321 0.102799 0.1329 0.2272 Uncertain 12_32137512_C->G 12 32137512 32137512 C G snp 1474.77 0/1 99 144 81 63 0.44 exonic rs3759299 KIAA1551 AU nonsynonymous SNV NM_018169 exon4 c.C3623G p.S1208C 0.175519 0.247 0.198831 0.2282 0.2435 0.0 P -0.938 T 0.043 T 0.023 T Pathogenic 12_32138924_T->C 12 32138924 32138924 T C snp 980.77 0/1 99 109 64 45 0.41 intronic rs7302975 KIAA1551 AU NM_018169 exon4 c.5002+33T>C 0.823482 0.8234 0.799985 0.8070 0.8328 Uncertain 12_32138975_T->- 12 32138975 32138975 T - indel 763.73 0/1 99 54 29 25 0.46 intronic rs35804480 KIAA1551 AU NM_018169 exon4 c.5002+84delT 0.796725 0.8234 Uncertain 12_32140098_A->G 12 32140098 32140098 A G snp 117.77 0/1 99 8 4 4 0.5 intronic rs3213955 KIAA1551 AU NM_018169 exon5 c.6283-74A>G 0.124401 0.2351 Uncertain 12_32446901_T->C 12 32446901 32446901 T C snp 442.77 0/1 99 35 19 16 0.46 intronic rs261878 BICD1 AU NM_001714 exon3 c.186662-26T>C 0.401957 0.3829 0.477084 0.4909 0.3824 Uncertain 12_32481093_G->C 12 32481093 32481093 G C snp 3400.77 0/1 99 250 121 129 0.52 exonic rs3748275 BICD1 AU synonymous SNV NM_001714 exon5 c.G1704C p.V568V 0.264577 0.5764 0.188605 0.2341 0.5987 Uncertain 12_32481577_A->G 12 32481577 32481577 A G snp 107.77 0/1 99 12 8 4 0.33 intronic rs3748276 BICD1 AU NM_001714 exon5 c.221224+88A>G 0.269169 0.5774 Uncertain 12_32487644_T->A 12 32487644 32487644 T A snp 1419.77 0/1 99 110 51 59 0.54 intronic rs10844188 BICD1 AU NM_001714 exon6 c.227336+43T>A 0.286342 0.5774 0.218284 0.2454 0.6024 Uncertain 12_32487750_G->A 12 32487750 32487750 G A snp 189.77 0/1 99 11 5 6 0.55 intronic rs2291420 BICD1 AU NM_001714 exon6 c.227336+149G>A 0.286342 0.5774 Uncertain 12_32490348_G->A 12 32490348 32490348 G A snp 460.77 0/1 99 26 8 18 0.69 intronic rs2388988 BICD1 AU NM_001714 exon7 c.230167-84G>A 0.289936 0.5774 Uncertain 12_32490369_G->A 12 32490369 32490369 G A snp 649.77 0/1 99 41 13 28 0.68 intronic rs2388987 BICD1 AU NM_001714 exon7 c.230167-63G>A 0.579673 0.7252 Uncertain 12_32490375_C->G 12 32490375 32490375 C G snp 784.77 0/1 99 51 17 34 0.67 intronic rs4604975 BICD1 AU NM_001714 exon7 c.230167-57C>G 0.290136 0.5774 Uncertain 12_32490849_G->A 12 32490849 32490849 G A snp 195.77 0/1 99 19 9 10 0.53 intronic rs7309590 BICD1 AU NM_001714 exon7 c.230485+99G>A 0.284944 0.5605 0.2514 0.6039 Uncertain 12_32490850_C->G 12 32490850 32490850 C G snp 193.77 0/1 99 19 9 10 0.53 intronic rs1057779 BICD1 AU NM_001714 exon7 c.230485+100C>G 0.579473 0.7242 0.5200 0.7484 Uncertain 12_32491626_G->A 12 32491626 32491626 G A snp 70.77 0/1 99 14 10 4 0.29 intronic rs1471909 BICD1 AU NM_001714 exon8 c.231454-93G>A 0.633786 0.7242 Uncertain 12_32530257_G->T 12 32530257 32530257 G T snp 297.77 0/1 99 15 6 9 0.6 intronic rs7298381 BICD1 AU NM_001714 exon10 c.270208-216G>T 0.526158 0.5863 Uncertain 12_32530385_C->G 12 32530385 32530385 C G snp 2283.77 0/1 99 205 101 104 0.51 intronic rs7298319 BICD1 AU NM_001714 exon10 c.270208-88C>G 0.409944 0.4236 Uncertain 12_32530580_G->A 12 32530580 32530580 G A snp 1220.77 0/1 99 90 44 46 0.51 UTR3 rs11051966 BICD1 AU 0.0784744 0.0635 0.094034 0.0980 0.0598 Uncertain 12_32639156_C->A 12 32639156 32639156 C A snp 594.77 0/1 99 39 13 26 0.67 intergenic rs6488061 BICD1 AU 0.61222 0.5605 Uncertain 12_32687224_T->A 12 32687224 32687224 T A snp 188.77 0/1 99 18 10 8 0.44 intronic rs118150480 FGD4 AR NM_001304481 exon2 c.78003-29846T>A 0.0121805 0.0288 Uncertain 12_32753502_-->TTTC 12 32753502 32753502 - TTTC indel 357.87 1/1 15 24 1 23 0.96 intronic rs200424841 FGD4 AR NM_001304480 exon6 c.66870-709insTTTC Uncertain 12_32854602_G->A 12 32854602 32854602 G A snp 262.8 1/1 21 7 0 7 1.0 intronic rs9737752 DNM1L AD NM_012062 exon2 c.22199+106G>A 0.995607 1 Uncertain 12_32889911_C->T 12 32889911 32889911 C T snp 83.77 0/1 99 11 7 4 0.36 intronic rs2293341 DNM1L AD NM_012062 exon14 c.57741-127C>T 0.123802 0.126 Uncertain 12_32890685_C->T 12 32890685 32890685 C T snp 2869.77 1/1 99 99 0 99 1.0 intronic rs2177704 DNM1L AD NM_012062 exon15 c.58501-113C>T 0.908546 0.9851 Uncertain 12_32974245_C->T 12 32974245 32974245 C T snp 759.77 1/1 34 30 1 29 0.97 intronic rs10772008 PKP2 AD NM_004572 exon5 c.28932-44C>T 0.591653 0.3244 0.766492 0.7127 0.3557 Uncertain 12_33529647_A->T 12 33529647 33529647 A T snp 170.77 0/1 99 24 16 8 0.33 UTR3 rs10844567 SYT10 AU 0.307109 0.0665 Uncertain 12_33535289_G->A 12 33535289 33535289 G A snp 889.77 0/1 99 79 41 38 0.48 exonic rs10844571 SYT10 AU synonymous SNV NM_198992 exon5 c.C1365T p.Y455Y 0.198882 0.0655 0.210211 0.2331 0.0684 Uncertain 12_33576990_A->C 12 33576990 33576990 A C snp 3882.77 1/1 99 136 0 136 1.0 intronic rs7980799 SYT10 AU NM_198992 exon6 c.49308-2082A>C 0.827476 0.9375 0.7069 0.9470 Uncertain 12_33578998_CACACA->- 12 33578998 33579003 CACACA - indel 780.73 0/1 99 22 11 11 0.5 intronic rs376170383 SYT10 AU NM_198992 exon6 c.49308-74_49308-69delCACACA Uncertain 12_33579034_C->T 12 33579034 33579034 C T snp 537.77 0/1 99 45 23 22 0.49 intronic rs10844595 SYT10 AU NM_198992 exon6 c.49308-38C>T 0.136182 0.0635 0.124942 0.1270 0.0658 Uncertain 12_33579297_C->G 12 33579297 33579297 C G snp 1539.77 0/1 99 137 69 68 0.5 exonic rs11052695 SYT10 AU synonymous SNV NM_198992 exon2 c.G285C p.T95T 0.139776 0.0635 0.131247 0.1252 0.0655 Uncertain 12_33579408_A->T 12 33579408 33579408 A T snp 1216.77 0/1 99 97 50 47 0.48 exonic rs10844596 SYT10 AU synonymous SNV NM_198992 exon2 c.T174A p.A58A 0.139776 0.0635 0.131093 0.1375 0.0746 Uncertain 12_33579459_A->G 12 33579459 33579459 A G snp 510.77 0/1 99 47 24 23 0.49 intronic rs11052696 SYT10 AU NM_198992 exon6 c.49666+29A>G 0.123802 0.0635 0.116297 0.1571 0.1055 Uncertain 12_33592590_G->C 12 33592590 33592590 G C snp 531.77 0/1 99 32 14 18 0.56 UTR5 rs73313956 SYT10 AU 0.125 0.0635 Uncertain 12_38710583_C->T 12 38710583 38710583 C T snp 342.78 1/1 27 12 0 12 1.0 UTR5 rs7296576 ALG10B AU 0.661542 0.8581 Uncertain 12_38712142_C->G 12 38712142 38712142 C G snp 7977.77 1/1 99 250 0 250 1.0 exonic rs6582584 ALG10B AU nonsynonymous SNV NM_001013620 exon2 c.C251G p.A84G 0.966653 1 0.966169 0.9823 1 0.8 T 0.000 P -0.960 T 0.0 T 0.0 T Pathogenic 12_39064381_T->G 12 39064381 39064381 T G snp 40.79 0/1 23 3 1 2 0.67 intronic rs7316392 CPNE8 AU NM_153634 exon2 c.16847-149T>G 0.263379 0.2302 Uncertain 12_39079156_T->C 12 39079156 39079156 T C snp 256.8 1/1 21 8 1 7 0.88 intronic rs78433213 CPNE8 AU NM_153634 exon5 c.31608-135T>C 0.0131789 0.0089 Uncertain 12_39087609_G->A 12 39087609 39087609 G A snp 2337.77 0/1 99 213 105 108 0.51 exonic rs3759139 CPNE8 AU synonymous SNV NM_153634 exon15 c.C993T p.Y331Y 0.26238 0.2331 0.331001 0.3697 0.2262 Uncertain 12_39087687_A->C 12 39087687 39087687 A C snp 2609.77 1/1 99 89 0 89 1.0 intronic rs826877 CPNE8 AU NM_153634 exon6 c.39957+47A>C 0.958067 1 0.958244 0.9797 1 Uncertain 12_39096664_T->A 12 39096664 39096664 T A snp 581.77 0/1 99 52 24 28 0.54 intronic rs7960616 CPNE8 AU NM_153634 exon7 c.48993-12T>A 0.266174 0.2341 0.333180 0.3688 0.2261 Uncertain 12_39117384_C->A 12 39117384 39117384 C A snp 825.77 1/1 63 23 0 23 1.0 intronic rs844115 CPNE8 AU NM_153634 exon8 c.69890-189C>A 0.639177 0.8065 Uncertain 12_39124173_-->A 12 39124173 39124173 - A indel 1753.73 1/1 99 64 0 64 1.0 intronic rs397747685 CPNE8 AU NM_153634 exon10 c.76477+13insA 0.958067 1 0.956752 0.9798 1 Uncertain 12_39154733_T->A 12 39154733 39154733 T A snp 787.77 0/1 99 75 41 34 0.45 intronic rs862332 CPNE8 AU NM_153634 exon11 c.107007+43T>A 0.163738 0.2341 0.084833 0.1273 0.2435 Uncertain 12_39299404_T->G 12 39299404 39299404 T G snp 71.77 0/1 99 10 7 3 0.3 UTR5 rs1108122 CPNE8 AU 0.107428 0.3194 Uncertain 12_39299405_C->T 12 39299405 39299405 C T snp 68.77 0/1 97 10 7 3 0.3 UTR5 rs1108123 CPNE8 AU 0.107428 0.3194 Uncertain 12_39698608_G->T 12 39698608 39698608 G T snp 357.77 0/1 99 51 32 19 0.37 intronic rs774522417 KIF21A AD NM_001173465 exon4 c.10397-14G>T 5.555e-05 0.0007 Uncertain 12_40034699_G->A 12 40034699 40034699 G A snp 359.77 0/1 99 42 26 16 0.38 intronic rs11836770 C12orf40 AU NM_001031748 exon2 c.14618-57G>A 0.158546 0.0843 0.192729 Uncertain 12_40037727_A->G 12 40037727 40037727 A G snp 791.77 0/1 99 80 43 37 0.46 intronic rs10735878 C12orf40 AU NM_001031748 exon3 c.17581+8A>G 0.717452 0.6022 0.807496 0.8092 0.6110 Uncertain 12_40040331_C->T 12 40040331 40040331 C T snp 409.77 0/1 99 36 19 17 0.47 intronic rs11172990 C12orf40 AU NM_001031748 exon4 c.20125+68C>T 0.123602 0.1508 Uncertain 12_40077028_A->G 12 40077028 40077028 A G snp 72.77 0/1 67 7 2 5 0.71 intronic rs10047563 C12orf40 AU NM_001031748 exon8 c.56804+86A>G 0.709465 0.5833 Uncertain 12_40442111_C->T 12 40442111 40442111 C T snp 69.77 0/1 98 9 6 3 0.33 intronic rs10878036 SLC2A13 AU NM_052885 exon9 c.288185+99C>T 0.278554 0.4921 Uncertain 12_40619082_G->A 12 40619082 40619082 G A snp 2002.77 1/1 99 72 0 72 1.0 exonic rs2256408 LRRK2 AD nonsynonymous SNV NM_198578 exon1 c.G149A p.R50H 0.969249 1 0.965477 0.9911 1 1 T 0.0 P -0.974 T 0.0 T 0.0 T CLINSIG=unknown;CLNDBN=Parkinson_disease_8\x2c_autosomal_dominant;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000032408.1;CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet;CLNDSDBID=NBK1208:C1846862:607060:ORPHA2828 Pathogenic 12_40619301_G->A 12 40619301 40619301 G A snp 1071.77 1/1 78 35 0 35 1.0 intronic rs2723273 LRRK2 AD NM_198578 exon2 c.423-55G>A 0.969249 1 0.970872 Uncertain 12_40619542_A->G 12 40619542 40619542 A G snp 2067.77 1/1 99 74 0 74 1.0 intronic rs2256286 LRRK2 AD NM_198578 exon2 c.509+100A>G 0.969249 1 Uncertain 12_40626230_T->C 12 40626230 40626230 T C snp 3860.77 1/1 99 143 0 143 1.0 intronic rs1352879 LRRK2 AD NM_198578 exon3 c.7252+45T>C 0.9373 1 0.933569 0.9823 1 Uncertain 12_40626285_C->T 12 40626285 40626285 C T snp 2381.77 1/1 99 78 0 78 1.0 intronic rs1352878 LRRK2 AD NM_198578 exon3 c.7252+100C>T 0.9375 1 Uncertain 12_40631791_T->C 12 40631791 40631791 T C snp 484.77 0/1 99 62 36 26 0.42 exonic rs10878245 LRRK2 AD synonymous SNV NM_198578 exon5 c.T457C p.L153L 0.452875 0.3552 0.529064 0.5263 0.3466 CLINSIG=unknown;CLNDBN=Parkinson_disease_8\x2c_autosomal_dominant;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000032466.1;CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet;CLNDSDBID=NBK1208:C1846862:607060:ORPHA2828 Uncertain 12_40645257_C->A 12 40645257 40645257 C A snp 697.77 0/1 99 68 36 32 0.47 intronic rs7955902 LRRK2 AD NM_198578 exon10 c.26333-9C>A 0.319489 0.3532 0.318182 0.3622 0.3494 Uncertain 12_40657537_A->G 12 40657537 40657537 A G snp 152.77 0/1 99 14 8 6 0.43 intronic rs10784461 LRRK2 AD NM_198578 exon14 c.38657-53A>G 0.400359 0.3472 Uncertain 12_40657700_C->G 12 40657700 40657700 C G snp 462.77 0/1 99 44 22 22 0.5 exonic rs7308720 LRRK2 AD nonsynonymous SNV NM_198578 exon14 c.C1653G p.N551K 0.0994409 0.1042 0.094601 0.0861 0.1079 0.06 T 0.968 P -0.992 T 1.0 D 0.972 D CLINSIG=unknown;CLNDBN=Parkinson_disease_8\x2c_autosomal_dominant;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000032413.1;CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet;CLNDSDBID=NBK1208:C1846862:607060:ORPHA2828 ID=CM104618;DIS=Parkinson disease, reduced risk, association with;TAG=DFP;PUB=20186690 DFP Pathogenic 12_40657771_C->G 12 40657771 40657771 C G snp 298.77 0/1 99 26 14 12 0.46 intronic rs10784462 LRRK2 AD NM_198578 exon14 c.38770+68C>G 0.400359 0.3472 Uncertain 12_40668636_-->T 12 40668636 40668636 - T indel 316.73 0/1 99 47 23 24 0.51 intronic rs200529791 LRRK2 AD NM_198578 exon16 c.49722-19insT 0.00399361 0.0159 0.0016 0.0200 Uncertain 12_40681057_C->T 12 40681057 40681057 C T snp 267.8 1/1 21 8 0 8 1.0 intronic rs4473003 LRRK2 AD NM_198578 exon20 c.62219-95C>T 0.824281 0.6815 Uncertain 12_40681142_-->T 12 40681142 40681142 - T indel 1471.73 0/1 99 94 49 45 0.48 intronic rs138343113 LRRK2 AD NM_198578 exon20 c.62219-10insT 0.386382 0.3433 0.404218 0.4361 0.3430 Uncertain 12_40681352_-->A 12 40681352 40681352 - A indel 409.73 0/1 99 67 35 32 0.48 intronic rs532723771 LRRK2 AD NM_198578 exon20 c.62408+11insA 0.110224 0.1022 0.0890 0.1049 Uncertain 12_40702846_A->T 12 40702846 40702846 A T snp 185.9 1/1 15 7 0 7 1.0 intronic rs7305344 LRRK2 AD NM_198578 exon30 c.83974-61A>T 0.682508 0.5228 Uncertain 12_40702911_G->A 12 40702911 40702911 G A snp 387.77 0/1 99 45 25 20 0.44 exonic rs7133914 LRRK2 AD nonsynonymous SNV NM_198578 exon30 c.G4193A p.R1398H 0.100439 0.1022 0.092880 0.0841 0.1024 0.08 T 0.942 P -0.985 T 0.992 D 0.583 D CLINSIG=unknown;CLNDBN=Parkinson_disease_8\x2c_autosomal_dominant;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000032452.1;CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet;CLNDSDBID=NBK1208:C1846862:607060:ORPHA2828 ID=CM104617;DIS=Parkinson disease, reduced risk, association with;TAG=DFP;PUB=20186690 DFP Pathogenic 12_40702987_G->A 12 40702987 40702987 G A snp 737.77 0/1 99 72 40 32 0.44 exonic rs11175964 LRRK2 AD synonymous SNV NM_198578 exon30 c.G4269A p.K1423K 0.0609026 0.1022 0.053360 0.0721 0.1026 CLINSIG=unknown;CLNDBN=Parkinson_disease_8\x2c_autosomal_dominant;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000032455.1;CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet;CLNDSDBID=NBK1208:C1846862:607060:ORPHA2828 Uncertain 12_40703087_-->GT 12 40703087 40703087 - GT indel 942.19 0/1 4 34 2 32 0.94 intronic rs10650388 LRRK2 AD NM_198578 exon30 c.84102+52insGT 0.5069 0.3770 Uncertain 12_40708892_T->C 12 40708892 40708892 T C snp 461.77 1/1 36 12 0 12 1.0 intronic rs1427267 LRRK2 AD NM_198578 exon33 c.90080-121T>C 0.682907 0.5228 Uncertain 12_40708922_C->T 12 40708922 40708922 C T snp 1109.77 1/1 81 34 0 34 1.0 intronic rs1427266 LRRK2 AD NM_198578 exon33 c.90080-91C>T 0.585663 0.501 Uncertain 12_40709185_A->G 12 40709185 40709185 A G snp 4017.77 1/1 99 145 0 145 1.0 intronic rs721713 LRRK2 AD NM_198578 exon33 c.90169+83A>G 0.585663 0.501 Uncertain 12_40709318_G->A 12 40709318 40709318 G A snp 168.9 1/1 15 6 0 6 1.0 intronic rs721712 LRRK2 AD NM_198578 exon33 c.90169+216G>A 0.585663 0.501 Uncertain 12_40709328_G->A 12 40709328 40709328 G A snp 93.28 1/1 9 3 0 3 1.0 intronic rs721711 LRRK2 AD NM_198578 exon33 c.90169+226G>A 0.585663 0.501 Uncertain 12_40713759_T->C 12 40713759 40713759 T C snp 392.77 1/1 30 16 0 16 1.0 intronic rs1896252 LRRK2 AD NM_198578 exon34 c.94856-30T>C 0.585663 0.501 0.553193 0.5734 0.4756 Uncertain 12_40713834_C->A 12 40713834 40713834 C A snp 914.77 1/1 66 39 0 39 1.0 exonic rs1427263 LRRK2 AD synonymous SNV NM_198578 exon34 c.C4872A p.G1624G 0.682907 0.5218 0.685903 0.6781 0.5005 CLINSIG=unknown;CLNDBN=Parkinson_disease_8\x2c_autosomal_dominant;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000032471.1;CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet;CLNDSDBID=NBK1208:C1846862:607060:ORPHA2828 Uncertain 12_40713873_A->G 12 40713873 40713873 A G snp 1073.77 1/1 75 44 0 44 1.0 exonic rs11176013 LRRK2 AD synonymous SNV NM_198578 exon34 c.A4911G p.K1637K 0.585663 0.501 0.551732 0.5734 0.4745 CLINSIG=unknown;CLNDBN=Parkinson_disease_8\x2c_autosomal_dominant;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000032473.1;CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet;CLNDSDBID=NBK1208:C1846862:607060:ORPHA2828 Uncertain 12_40713901_T->A 12 40713901 40713901 T A snp 363.77 0/1 99 45 26 19 0.42 exonic rs11564148 LRRK2 AD nonsynonymous SNV NM_198578 exon34 c.T4939A p.S1647T 0.285942 0.3373 0.257737 0.2983 0.3341 0.62 T 0.904 P -1.033 T 0.0 T 0.0 T CLINSIG=unknown;CLNDBN=Parkinson_disease_8\x2c_autosomal_dominant;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000032475.1;CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet;CLNDSDBID=NBK1208:C1846862:607060:ORPHA2828 ID=CM104616;DIS=Parkinson disease, association with;TAG=DP;PUB=20186690 DP Pathogenic 12_40714785_A->T 12 40714785 40714785 A T snp 4663.77 1/1 99 173 0 173 1.0 intronic rs10878368 LRRK2 AD NM_198578 exon35 c.95902-50A>T 0.585663 0.501 0.553676 0.5735 0.4759 Uncertain 12_40715013_T->A 12 40715013 40715013 T A snp 565.77 1/1 42 17 0 17 1.0 intronic rs7307276 LRRK2 AD NM_198578 exon35 c.96057+23T>A 0.585663 0.501 0.553761 0.5756 0.4768 Uncertain 12_40716015_C->T 12 40716015 40716015 C T snp 1863.77 1/1 99 64 0 64 1.0 intronic rs7137665 LRRK2 AD NM_198578 exon36 c.97050+32C>T 0.683307 0.5228 0.686923 0.6788 0.5030 Uncertain 12_40716038_A->- 12 40716038 40716038 A - indel 855.73 0/1 99 76 30 46 0.61 intronic rs66762941 LRRK2 AD NM_198578 exon36 c.97050+55delA Uncertain 12_40716260_T->C 12 40716260 40716260 T C snp 2325.77 1/1 99 78 0 78 1.0 exonic rs10878371 LRRK2 AD synonymous SNV NM_198578 exon37 c.T5457C p.G1819G 0.585264 0.501 0.553437 0.5733 0.4756 CLINSIG=unknown;CLNDBN=Parkinson_disease_8\x2c_autosomal_dominant;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000032483.1;CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet;CLNDSDBID=NBK1208:C1846862:607060:ORPHA2828 Uncertain 12_40753044_-->T 12 40753044 40753044 - T indel 157.73 0/1 78 13 4 9 0.69 intronic rs111612315 LRRK2 AD NM_198578 exon47 c.134128-17insT 0.592252 0.5486 0.6216 0.5670 Uncertain 12_40753303_A->G 12 40753303 40753303 A G snp 86.28 1/1 9 3 0 3 1.0 intronic rs3789330 LRRK2 AD NM_198578 exon47 c.134313+57A>G 0.703275 0.631 Uncertain 12_40757114_-->CATG 12 40757114 40757114 - CATG indel 863.73 1/1 39 13 0 13 1.0 intronic rs10626458 LRRK2 AD NM_198578 exon48 c.138270-89insCATG 0.827276 0.6885 Uncertain 12_40757187_T->- 12 40757187 40757187 T - indel 1412.73 0/1 99 89 35 54 0.61 intronic rs11317573 LRRK2 AD NM_198578 exon48 c.138270-16delT 0.551318 0.4603 0.6319 0.4825 Uncertain 12_40758652_T->C 12 40758652 40758652 T C snp 1977.77 0/1 99 145 64 81 0.56 exonic rs3761863 LRRK2 AD nonsynonymous SNV NM_198578 exon49 c.T7190C p.M2397T 0.551717 0.4603 0.612273 0.6240 0.4731 0.43 T 0.0 P -0.923 T 0.0 T 0.0 T CLINSIG=unknown;CLNDBN=Parkinson_disease_8\x2c_autosomal_dominant;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000032513.1;CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet;CLNDSDBID=NBK1208:C1846862:607060:ORPHA2828 ID=CM1413562;DIS=Multiple system atrophy, reduced risk;TAG=DP;PUB=25378673 DP Pathogenic 12_40761007_A->G 12 40761007 40761007 A G snp 37.77 0/1 66 4 2 2 0.5 intronic rs3789328 LRRK2 AD NM_198578 exon50 c.141946+128A>G 0.541733 0.4603 Uncertain 12_40761315_A->T 12 40761315 40761315 A T snp 156.78 0/1 24 6 1 5 0.83 intronic rs12426498 LRRK2 AD NM_198578 exon51 c.142512-130A>T 0.0642971 0.1151 Uncertain 12_40761358_A->G 12 40761358 40761358 A G snp 610.77 1/1 45 18 0 18 1.0 intronic rs4768238 LRRK2 AD NM_198578 exon51 c.142512-87A>G 0.808906 0.6915 Uncertain 12_40787385_C->A 12 40787385 40787385 C A snp 219.77 0/1 99 16 9 7 0.44 intronic rs7968721 MUC19 AU NM_173600 exon1 c.52+84C>A 0.589856 0.495 Uncertain 12_40793993_C->T 12 40793993 40793993 C T snp 380.77 0/1 99 32 16 16 0.5 intronic rs1820544 MUC19 AU NM_173600 exon3 c.6620+124C>T 0.416534 0.4742 Uncertain 12_40799969_C->T 12 40799969 40799969 C T snp 1371.77 0/1 99 102 42 60 0.59 exonic rs10784595 MUC19 AU unknown 0.412939 0.4772 0.3782 0.4328 Uncertain 12_40799975_G->C 12 40799975 40799975 G C snp 1319.77 0/1 99 90 36 54 0.6 exonic rs10784596 MUC19 AU unknown 0.408546 0.4772 0.3790 0.4328 Uncertain 12_40802150_G->A 12 40802150 40802150 G A snp 1785.77 0/1 99 141 68 73 0.52 exonic rs1019709 MUC19 AU unknown 0.600639 0.5397 0.6900 0.4621 Uncertain 12_40808832_A->G 12 40808832 40808832 A G snp 1667.77 0/1 99 127 67 60 0.47 intronic rs994798 MUC19 AU NM_173600 exon9 c.21598-15A>G 0.422524 0.4782 0.3986 0.4318 Uncertain 12_40815548_T->A 12 40815548 40815548 T A snp 309.78 1/1 24 10 0 10 1.0 intronic rs6581732 MUC19 AU NM_173600 exon16 c.28392-93T>A 0.836462 0.7192 Uncertain 12_40820208_G->A 12 40820208 40820208 G A snp 564.77 0/1 99 50 29 21 0.42 splicing rs11176575 MUC19 AU NM_173600 exon18 c.32959G>A 0.43111 0.4722 0.4129 0.4362 1.0 P Pathogenic 12_40821176_G->A 12 40821176 40821176 G A snp 5462.77 1/1 99 216 0 216 1.0 exonic rs7955308 MUC19 AU unknown 0.832468 0.7183 0.8972 0.6824 1.000 P -1.015 T Uncertain 12_40821839_C->T 12 40821839 40821839 C T snp 1499.77 0/1 99 153 86 67 0.44 exonic rs11176584 MUC19 AU unknown 0.114217 0.1577 0.1056 0.1673 Uncertain 12_40822012_C->T 12 40822012 40822012 C T snp 43.77 0/1 57 4 2 2 0.5 intronic rs7960062 MUC19 AU NM_173600 exon20 c.34646+117C>T 0.546126 0.4732 Uncertain 12_40826116_G->T 12 40826116 40826116 G T snp 34.77 0/1 63 9 6 3 0.33 intronic rs11564239 MUC19 AU NM_173600 exon23 c.38930-63G>T 0.115216 0.1587 Uncertain 12_40827479_T->C 12 40827479 40827479 T C snp 1731.77 1/1 99 59 0 59 1.0 intronic rs2162470 MUC19 AU NM_173600 exon25 c.40316-86T>C 0.743211 0.7034 Uncertain 12_40827579_C->T 12 40827579 40827579 C T snp 2328.77 0/1 99 203 96 107 0.53 exonic rs11564110 MUC19 AU unknown 0.115016 0.1587 0.1095 0.1673 Uncertain 12_40829785_T->C 12 40829785 40829785 T C snp 40.77 0/1 69 7 5 2 0.29 intronic rs7139097 MUC19 AU NM_173600 exon26 c.42649-113T>C 0.168131 0.1379 Uncertain 12_40830583_T->C 12 40830583 40830583 T C snp 2212.77 0/1 99 123 37 86 0.7 intronic rs11564168 MUC19 AU NM_173600 exon27 c.43296+38T>C 0.189696 0.121 0.2318 0.1291 Uncertain 12_40830600_GTGTGT->- 12 40830600 40830605 GTGTGT - indel 2752.73 0/1 99 92 14 78 0.85 intronic rs201817965 MUC19 AU NM_173600 exon27 c.43296+55_43296+60delGTGTGT Uncertain 12_40832126_C->T 12 40832126 40832126 C T snp 2019.77 0/1 99 188 105 83 0.44 exonic rs10878584 MUC19 AU unknown 0.518171 0.4742 0.6096 0.4383 Uncertain 12_40832161_T->C 12 40832161 40832161 T C snp 1339.77 0/1 99 131 72 59 0.45 exonic rs11176635 MUC19 AU unknown 0.518371 0.4742 0.6142 0.4401 0.58 T 1.0 P -0.930 T Uncertain 12_40834376_C->G 12 40834376 40834376 C G snp 778.77 0/1 99 58 24 34 0.59 exonic rs10878592 MUC19 AU unknown 0.517971 0.4742 0.6139 0.4367 1.000 P -0.938 T Uncertain 12_40834955_C->A 12 40834955 40834955 C A snp 2544.77 0/1 99 229 114 115 0.5 exonic rs10784618 MUC19 AU unknown 0.518371 0.4742 0.6100 0.4385 1 T 1.000 P Uncertain 12_40835596_T->G 12 40835596 40835596 T G snp 743.77 0/1 99 41 16 25 0.61 intronic rs4768263 MUC19 AU NM_173600 exon32 c.48424-77T>G 0.51857 0.4742 Uncertain 12_40835734_C->G 12 40835734 40835734 C G snp 2597.77 0/1 99 244 133 111 0.45 exonic rs7966110 MUC19 AU unknown 0.518371 0.4742 0.6106 0.4383 0.01 T 1.000 P -0.896 T Uncertain 12_40837149_G->A 12 40837149 40837149 G A snp 1242.77 0/1 99 123 68 55 0.45 exonic rs11564141 MUC19 AU unknown 0.0261581 0.0774 0.0068 0.0782 0.65 T 1 N -1.024 T Uncertain 12_40838146_A->T 12 40838146 40838146 A T snp 2319.77 0/1 99 198 102 96 0.48 intronic rs10784620 MUC19 AU NM_173600 exon35 c.50869+28A>T 0.518371 0.4742 0.6087 0.4419 Uncertain 12_40838216_T->C 12 40838216 40838216 T C snp 2006.77 0/1 99 151 66 85 0.56 exonic rs10784621 MUC19 AU unknown 0.518371 0.4752 0.6100 0.4408 0.86 T 1.000 P -0.944 T Uncertain 12_40839467_A->G 12 40839467 40839467 A G snp 1536.77 0/1 99 153 82 71 0.46 intronic rs7972395 MUC19 AU NM_173600 exon37 c.52197+21A>G 0.518371 0.4742 0.6137 0.4417 Uncertain 12_40839521_T->C 12 40839521 40839521 T C snp 775.77 0/1 99 48 22 26 0.54 intronic rs1346307 MUC19 AU NM_173600 exon37 c.52197+75T>C 0.51857 0.4742 Uncertain 12_40840325_T->C 12 40840325 40840325 T C snp 1968.77 0/1 99 203 111 92 0.45 exonic rs10878597 MUC19 AU unknown 0.518371 0.4742 0.6100 0.4383 Uncertain 12_40841221_T->A 12 40841221 40841221 T A snp 447.77 0/1 99 35 16 19 0.54 intronic rs181486447 MUC19 AU NM_173600 exon39 c.53909+63T>A 0.00638978 0.0317 Uncertain 12_40841781_A->G 12 40841781 40841781 A G snp 59.74 1/1 6 3 0 3 1.0 intronic rs1820547 MUC19 AU NM_173600 exon40 c.54718-186A>G 0.88099 0.8145 Uncertain 12_40842113_T->C 12 40842113 40842113 T C snp 148.77 0/1 99 11 6 5 0.45 intronic rs144657010 MUC19 AU NM_173600 exon40 c.54748+116T>C 0.00638978 0.0317 Uncertain 12_40844667_A->C 12 40844667 40844667 A C snp 115.77 0/1 99 10 5 5 0.5 intronic rs10784623 MUC19 AU NM_173600 exon43 c.57269+149A>C 0.517971 0.4742 Uncertain 12_40852398_T->C 12 40852398 40852398 T C snp 88.77 0/1 30 5 1 4 0.8 intronic rs1035811 MUC19 AU NM_173600 exon44 c.65283-134T>C 0.825879 0.8135 Uncertain 12_40857214_T->C 12 40857214 40857214 T C snp 2373.77 1/1 99 90 0 90 1.0 intronic rs10878623 MUC19 AU NM_173600 exon46 c.69992-27T>C 0.690495 0.6607 0.7840 0.6636 Uncertain 12_40857943_A->C 12 40857943 40857943 A C snp 2062.77 1/1 99 74 0 74 1.0 exonic rs2933353 MUC19 AU unknown 0.692093 0.6607 0.7772 0.6322 0.77 T 0.0 P -0.975 T Uncertain 12_40859036_C->T 12 40859036 40859036 C T snp 3608.77 1/1 99 132 0 132 1.0 intronic rs2131202 MUC19 AU NM_173600 exon49 c.71766+21C>T 0.692093 0.6607 0.7772 0.6337 Uncertain 12_40859551_T->A 12 40859551 40859551 T A snp 216.84 1/1 18 6 0 6 1.0 intronic rs2131203 MUC19 AU NM_173600 exon50 c.72142+160T>A 0.694688 0.6607 Uncertain 12_40859588_A->T 12 40859588 40859588 A T snp 431.77 1/1 33 11 0 11 1.0 intronic rs2131204 MUC19 AU NM_173600 exon51 c.72525-186A>T 0.827476 0.6796 Uncertain 12_40868767_A->G 12 40868767 40868767 A G snp 1088.77 0/1 99 80 40 40 0.5 intronic rs1444222 MUC19 AU NM_173600 exon53 c.81414+104A>G 0.519768 0.5397 Uncertain 12_40868879_-->A 12 40868879 40868879 - A indel 2457.73 0/1 99 151 80 71 0.47 intronic rs397941993 MUC19 AU NM_173600 exon54 c.81648-18insA 0.172923 0.121 0.2165 0.1199 Uncertain 12_40869105_T->A 12 40869105 40869105 T A snp 117.77 0/1 99 7 3 4 0.57 intronic rs1867434 MUC19 AU NM_173600 exon54 c.81750+106T>A 0.0259585 0.0774 Uncertain 12_40894745_-->CTGAGAATAC 12 40894745 40894745 - CTGAGAATAC indel 10610.7 1/1 99 84 1 83 0.99 intronic rs111256342 MUC19 AU NM_173600 exon64 c.107705-209insCTGAGAATAC 0.692891 0.6617 Uncertain 12_40894964_G->T 12 40894964 40894964 G T snp 767.77 0/1 99 65 34 31 0.48 exonic rs719228 MUC19 AU unknown 0.519968 0.5407 Uncertain 12_40895026_C->T 12 40895026 40895026 C T snp 283.77 0/1 99 28 17 11 0.39 intronic rs719227 MUC19 AU NM_173600 exon64 c.107759+18C>T 0.519968 0.5407 Uncertain 12_40912236_G->T 12 40912236 40912236 G T snp 2907.77 0/1 99 250 132 118 0.47 intronic rs2588399 MUC19 AU NM_173600 exon94 c.125063-76G>T 0.211262 0.245 Uncertain 12_40914826_G->T 12 40914826 40914826 G T snp 730.77 0/1 99 60 32 28 0.47 intronic rs10878731 MUC19 AU NM_173600 exon100 c.127521+56G>T 0.172724 0.1875 Uncertain 12_40915787_T->C 12 40915787 40915787 T C snp 235.77 0/1 94 11 3 8 0.73 intronic rs2920821 MUC19 AU NM_173600 exon101 c.129195-657T>C 0.212061 0.245 Uncertain 12_40917312_C->T 12 40917312 40917312 C T snp 540.77 0/1 99 50 30 20 0.4 intronic rs2920820 MUC19 AU NM_173600 exon102 c.129998+65C>T 0.366214 0.2639 Uncertain 12_40918345_G->A 12 40918345 40918345 G A snp 82.77 0/1 99 13 8 5 0.38 exonic rs1492319 MUC19 AU unknown 0.173123 0.1875 Uncertain 12_40918902_T->C 12 40918902 40918902 T C snp 1818.77 0/1 99 176 100 76 0.43 exonic rs2933352 MUC19 AU unknown 0.212061 0.245 Uncertain 12_40920110_T->C 12 40920110 40920110 T C snp 1233.77 0/1 99 74 30 44 0.59 exonic rs2933351 MUC19 AU unknown 0.656949 0.5605 Uncertain 12_40922104_A->C 12 40922104 40922104 A C snp 2511.77 0/1 99 206 99 107 0.52 exonic rs1444220 MUC19 AU unknown 0.363019 0.2629 Uncertain 12_40924470_T->C 12 40924470 40924470 T C snp 74.77 0/1 99 8 5 3 0.38 intronic rs2588403 MUC19 AU NM_173600 exon116 c.137064+157T>C 0.363419 0.2639 Uncertain 12_40925908_A->C 12 40925908 40925908 A C snp 2186.77 0/1 99 199 105 94 0.47 intronic rs7139187 MUC19 AU NM_173600 exon119 c.138635+24A>C 0.65655 0.5605 0.6655 0.5475 Uncertain 12_40926493_C->T 12 40926493 40926493 C T snp 1164.77 0/1 99 132 84 48 0.36 intronic rs4768290 MUC19 AU NM_173600 exon121 c.139577-333C>T 0.212061 0.245 Uncertain 12_40933207_TCTCTCTTTCTTTCTTTCTTTCTTTCTTTCTT->- 12 40933207 40933238 TCTCTCTTTCTTTCTTTCTTTCTTTCTTTCTT - indel 956.87 1/1 15 5 0 5 1.0 intronic MUC19 AU NM_173600 exon135 c.146081-123_146081-92delTCTCTCTTTCTTTCTTTCTTTCTTTCTTTCTT Uncertain 12_40942464_T->- 12 40942464 40942464 T - indel 420.73 0/1 99 68 31 37 0.54 intronic rs35702138 MUC19 AU NM_173600 exon152 c.155184+31delT 0.58746 0.4345 0.4145 0.3262 Uncertain 12_40951087_C->A 12 40951087 40951087 C A snp 904.77 0/1 99 75 39 36 0.48 intronic rs186107903 MUC19 AU NM_173600 exon158 c.163748+90C>A 0.000998403 0.005 Uncertain 12_40954283_A->G 12 40954283 40954283 A G snp 194.77 0/1 99 14 6 8 0.57 intronic rs1492321 MUC19 AU NM_173600 exon162 c.167088-54A>G 0.144369 0.4137 Uncertain 12_41303825_A->C 12 41303825 41303825 A C snp 831.77 0/1 99 69 31 38 0.55 intronic rs2304819 CNTN1 AR NM_001256063 exon3 c.1640-49A>C 0.221046 0.2014 0.239385 0.2750 0.2262 Uncertain 12_41312365_A->T 12 41312365 41312365 A T snp 372.77 0/1 99 30 15 15 0.5 intronic rs10879356 CNTN1 AR NM_175038 exon2 c.10206-75A>T 0.468251 0.3333 Uncertain 12_41323480_C->T 12 41323480 41323480 C T snp 96.28 1/1 9 3 0 3 1.0 intronic rs17622354 CNTN1 AR NM_175038 exon5 c.21363-117C>T 0.367812 0.2202 Uncertain 12_41330531_T->C 12 41330531 41330531 T C snp 970.77 0/1 99 53 18 35 0.66 intronic rs2289522 CNTN1 AR NM_175038 exon8 c.28348-51T>C 0.491813 0.3383 0.510290 Uncertain 12_41337435_C->T 12 41337435 41337435 C T snp 1185.77 0/1 99 108 56 52 0.48 exonic rs1056019 CNTN1 AR synonymous SNV NM_001843 exon13 c.C1416T p.N472N 0.571486 0.4365 0.621578 0.6193 0.4613 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000116765.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 12_41582590_G->C 12 41582590 41582590 G C snp 226.77 0/1 99 20 10 10 0.5 exonic rs10879830 PDZRN4 AU synonymous SNV NM_001164595 exon1 c.G333C p.R111R 0.729233 0.7619 0.764344 0.7858 0.8194 ID=COSM4147020;OCCURENCE=3(thyroid) Uncertain 12_41582603_G->C 12 41582603 41582603 G C snp 176.77 0/1 99 11 5 6 0.55 exonic rs10879831 PDZRN4 AU nonsynonymous SNV NM_001164595 exon1 c.G346C p.G116R 0.608626 0.5843 0.7628 0.7634 0.29 T 0.001 P -0.960 T ID=COSM4147021;OCCURENCE=2(thyroid) Pathogenic 12_41588124_A->G 12 41588124 41588124 A G snp 197.8 0/1 21 9 1 8 0.89 intronic rs3847980 PDZRN4 AU NM_001164595 exon3 c.5733+134A>G 0.662141 0.6885 Uncertain 12_41946316_A->- 12 41946316 41946316 A - indel 158.77 1/1 21 7 0 7 1.0 intronic rs11301675 PDZRN4 AU NM_013377 exon4 c.114711-141delA 0.534145 0.621 Uncertain 12_41946453_T->C 12 41946453 41946453 T C snp 1408.77 1/1 99 54 1 53 0.98 splicing rs285585 PDZRN4 AU NM_013377 exon4 c.114711-4T>C 0.997204 1 0.997693 0.9980 1 Pathogenic 12_41949370_T->G 12 41949370 41949370 T G snp 1063.77 1/1 78 31 0 31 1.0 intronic rs285580 PDZRN4 AU NM_013377 exon5 c.117753-129T>G 0.666733 0.6012 Uncertain 12_41957568_C->T 12 41957568 41957568 C T snp 647.77 1/1 48 19 0 19 1.0 intronic rs157971 PDZRN4 AU NM_013377 exon6 c.125705+117C>T 0.792931 0.9067 Uncertain 12_42481732_G->A 12 42481732 42481732 G A snp 49.77 0/1 75 7 3 4 0.57 exonic rs7972986 GXYLT1 AU synonymous SNV NM_001099650 exon7 c.C1086T p.D362D 0.186102 0.1597 0.170661 0.1831 0.1826 Uncertain 12_42481803_G->A 12 42481803 42481803 G A snp 59.74 1/1 6 3 0 3 1.0 intronic rs824722 GXYLT1 AU NM_173601 exon1 c.162+54G>A 0.801118 0.8353 Uncertain 12_42499538_T->A 12 42499538 42499538 T A snp 46.77 0/1 31 3 1 2 0.67 intronic rs61942483 GXYLT1 AU NM_173601 exon4 c.18032-81T>A 0.54353 0.5982 Uncertain 12_42499539_T->C 12 42499539 42499539 T C snp 46.77 0/1 33 3 1 2 0.67 intronic rs10880239 GXYLT1 AU NM_173601 exon4 c.18032-80T>C 0.54353 0.5982 Uncertain 12_42499633_C->A 12 42499633 42499633 C A snp 96.77 0/1 99 245 223 22 0.09 exonic GXYLT1 AU nonsynonymous SNV NM_001099650 exon4 c.G758T p.R253M 0.02 T 0.839 D -0.601 T 0.923 T 0.796 D Pathogenic 12_42499645_G->A 12 42499645 42499645 G A snp 317.77 0/1 99 250 220 30 0.12 exonic rs79794264 GXYLT1 AU nonsynonymous SNV NM_001099650 exon4 c.C746T p.T249I 0.03 T 1 D -0.246 T 1.0 D 1.0 D Pathogenic 12_42499653_C->T 12 42499653 42499653 C T snp 294.77 0/1 99 250 221 29 0.12 exonic GXYLT1 AU nonsynonymous SNV NM_001099650 exon4 c.G738A p.M246I 0.12 T 1.000 D -1.073 T 0.988 D 0.893 D Pathogenic 12_42499654_A->G 12 42499654 42499654 A G snp 321.77 0/1 99 250 221 29 0.12 exonic GXYLT1 AU nonsynonymous SNV NM_001099650 exon4 c.T737C p.M246T 0 D 1.000 D -0.582 T 1.0 D 0.995 D Pathogenic 12_42499690_T->C 12 42499690 42499690 T C snp 281.77 0/1 99 250 222 28 0.11 exonic rs79044728 GXYLT1 AU nonsynonymous SNV NM_001099650 exon4 c.A701G p.Y234C 0.02 T 1 D -0.633 T 1.0 D 0.986 D Pathogenic 12_42499692_A->T 12 42499692 42499692 A T snp 249.77 0/1 99 250 221 29 0.12 exonic rs77044712 GXYLT1 AU stopgain NM_001099650 exon4 c.T699A p.Y233X 1 T 1 A Pathogenic 12_42499694_A->T 12 42499694 42499694 A T snp 281.77 0/1 99 250 222 28 0.11 exonic GXYLT1 AU nonsynonymous SNV NM_001099650 exon4 c.T697A p.Y233N 0.24 T 1 D -0.939 T 0.997 D 0.978 D Pathogenic 12_42499701_C->A 12 42499701 42499701 C A snp 387.77 0/1 99 249 214 35 0.14 exonic rs74583427 GXYLT1 AU nonsynonymous SNV NM_001099650 exon4 c.G690T p.R230S 0.28 T 1.000 D -0.916 T 0.943 T 0.823 D Pathogenic 12_42499711_C->A 12 42499711 42499711 C A snp 407.77 0/1 99 250 213 37 0.15 exonic rs76555438 GXYLT1 AU nonsynonymous SNV NM_001099650 exon4 c.G680T p.R227L 0.05 T 1 D -0.691 T 1.0 D 0.993 D ID=COSM693133,COSM693132;OCCURENCE=1(lung) Pathogenic 12_42499714_T->C 12 42499714 42499714 T C snp 442.77 0/1 99 250 214 36 0.14 exonic rs78536827 GXYLT1 AU nonsynonymous SNV NM_001099650 exon4 c.A677G p.N226S 0.78 T 1.000 D -1.090 T 0.592 P 0.326 P ID=COSM3811991,COSM3811990;OCCURENCE=1(breast) Pathogenic 12_42499730_G->T 12 42499730 42499730 G T snp 363.77 0/1 99 250 218 32 0.13 exonic rs77940338 GXYLT1 AU synonymous SNV NM_001099650 exon4 c.C661A p.R221R Uncertain 12_42499738_T->C 12 42499738 42499738 T C snp 411.77 0/1 99 246 214 32 0.13 exonic GXYLT1 AU nonsynonymous SNV NM_001099650 exon4 c.A653G p.E218G 0.15 T 1 D -0.991 T 0.988 D 0.966 D Pathogenic 12_42499739_C->T 12 42499739 42499739 C T snp 493.77 0/1 99 246 210 36 0.15 exonic rs77582546 GXYLT1 AU nonsynonymous SNV NM_001099650 exon4 c.G652A p.E218K 0.07 T 1 D -0.623 T 1.0 D 0.997 D Pathogenic 12_42499763_T->C 12 42499763 42499763 T C snp 549.77 0/1 99 240 204 36 0.15 exonic rs80202058 GXYLT1 AU nonsynonymous SNV NM_001099650 exon4 c.A628G p.I210V 0.0002 0 0.84 T 0.985 D -1.082 T 0.043 T 0.048 T Pathogenic 12_42499787_G->A 12 42499787 42499787 G A snp 594.77 0/1 99 223 187 36 0.16 exonic rs78536352 GXYLT1 AU synonymous SNV NM_001099650 exon4 c.C604T p.L202L 0.0005 0 Uncertain 12_42499802_C->A 12 42499802 42499802 C A snp 397.77 0/1 99 211 182 29 0.14 exonic rs78540738 GXYLT1 AU nonsynonymous SNV NM_001099650 exon4 c.G589T p.D197Y 0.01 T 1.000 D -0.699 T 0.966 D 0.924 D Pathogenic 12_42499809_T->G 12 42499809 42499809 T G snp 208.77 0/1 99 193 174 19 0.1 exonic rs75194020 GXYLT1 AU synonymous SNV NM_001099650 exon4 c.A582C p.P194P Uncertain 12_42499814_G->A 12 42499814 42499814 G A snp 186.77 0/1 99 174 155 19 0.11 exonic rs77688235 GXYLT1 AU stopgain NM_001099650 exon4 c.C577T p.R193X 0.96 T 1 A Pathogenic 12_42499817_A->T 12 42499817 42499817 A T snp 114.77 0/1 99 164 149 15 0.09 exonic GXYLT1 AU nonsynonymous SNV NM_001099650 exon4 c.T574A p.L192I 0.11 T 1.000 D -0.708 T 0.988 D 0.893 D Pathogenic 12_42499825_A->C 12 42499825 42499825 A C snp 146.77 0/1 99 148 133 15 0.1 exonic rs76034661 GXYLT1 AU nonsynonymous SNV NM_001099650 exon4 c.T566G p.I189S 0 D 1.000 D -0.596 T 0.661 T 0.579 P Pathogenic 12_42499826_T->C 12 42499826 42499826 T C snp 167.77 0/1 99 148 134 14 0.09 exonic rs75241273 GXYLT1 AU nonsynonymous SNV NM_001099650 exon4 c.A565G p.I189V 1 T 1.000 D -1.046 T 0.001 T 0.009 T Pathogenic 12_42499837_A->G 12 42499837 42499837 A G snp 261.77 0/1 99 130 115 15 0.12 exonic rs79888973 GXYLT1 AU nonsynonymous SNV NM_001099650 exon4 c.T554C p.V185A 0 D 1 D -1.110 T 0.932 T 0.708 D Pathogenic 12_42499848_T->G 12 42499848 42499848 T G snp 171.77 0/1 99 107 95 12 0.11 exonic rs77405383 GXYLT1 AU synonymous SNV NM_001099650 exon4 c.A543C p.S181S Uncertain 12_42503505_T->A 12 42503505 42503505 T A snp 1358.77 1/1 96 51 0 51 1.0 intronic rs824695 GXYLT1 AU NM_173601 exon5 c.21906+12T>A 0.991613 0.999 0.9716 0.9938 Uncertain 12_42538281_G->T 12 42538281 42538281 G T snp 248.77 0/1 99 25 11 14 0.56 exonic GXYLT1 AU synonymous SNV NM_001099650 exon1 c.C168A p.A56A Uncertain 12_42538284_G->A 12 42538284 42538284 G A snp 251.77 0/1 99 25 11 14 0.56 exonic GXYLT1 AU synonymous SNV NM_001099650 exon1 c.C165T p.G55G Uncertain 12_42538293_G->T 12 42538293 42538293 G T snp 248.77 0/1 99 28 13 15 0.54 exonic GXYLT1 AU synonymous SNV NM_001099650 exon1 c.C156A p.G52G Uncertain 12_42538294_C->G 12 42538294 42538294 C G snp 248.77 0/1 99 28 13 15 0.54 exonic GXYLT1 AU nonsynonymous SNV NM_001099650 exon1 c.G155C p.G52A 0.56 T 0.771 D -1.003 T 0.03 T 0.015 T Pathogenic 12_42538320_G->A 12 42538320 42538320 G A snp 250.77 0/1 99 32 15 17 0.53 exonic rs112525075 GXYLT1 AU synonymous SNV NM_001099650 exon1 c.C129T p.A43A 0.0006 0 ID=COSM4147024,COSM4147025;OCCURENCE=1(thyroid) Uncertain 12_42538334_C->A 12 42538334 42538334 C A snp 253.77 0/1 99 30 13 17 0.57 exonic rs181558534 GXYLT1 AU nonsynonymous SNV NM_001099650 exon1 c.G115T p.G39W 9.897e-05 0 0.04 T 0.993 N -1.046 T 0.979 D 0.686 D ID=COSM4147027,COSM4147026;OCCURENCE=1(thyroid) Pathogenic 12_42538340_C->A 12 42538340 42538340 C A snp 253.77 0/1 99 30 13 17 0.57 exonic GXYLT1 AU nonsynonymous SNV NM_001099650 exon1 c.G109T p.G37C 0.18 T 0.761 N -1.009 T 0.956 T 0.586 D Pathogenic 12_42538349_T->C 12 42538349 42538349 T C snp 253.77 0/1 99 28 12 16 0.57 exonic GXYLT1 AU nonsynonymous SNV NM_001099650 exon1 c.A100G p.T34A 0.93 T 1 N -0.981 T 0.0 T 0.0 T Pathogenic 12_42538352_C->A 12 42538352 42538352 C A snp 253.77 0/1 99 28 12 16 0.57 exonic GXYLT1 AU stopgain NM_001099650 exon1 c.G97T p.G33X 0.07 T 1 A Pathogenic 12_42538356_T->C 12 42538356 42538356 T C snp 234.77 0/1 99 27 12 15 0.56 exonic GXYLT1 AU synonymous SNV NM_001099650 exon1 c.A93G p.E31E Uncertain 12_42538366_A->T 12 42538366 42538366 A T snp 225.77 0/1 99 24 10 14 0.58 exonic GXYLT1 AU nonsynonymous SNV NM_001099650 exon1 c.T83A p.V28E 0.28 T 0.552 N -0.977 T 0.244 T 0.055 T Pathogenic 12_42538367_C->T 12 42538367 42538367 C T snp 195.77 0/1 99 23 10 13 0.57 exonic rs749751445 GXYLT1 AU nonsynonymous SNV NM_001099650 exon1 c.G82A p.V28M 0 0 0.23 T 0.963 N -1.075 T 0.917 T 0.245 D Pathogenic 12_42538371_G->C 12 42538371 42538371 G C snp 195.77 0/1 99 23 10 13 0.57 exonic GXYLT1 AU synonymous SNV NM_001099650 exon1 c.C78G p.L26L Uncertain 12_42538383_A->G 12 42538383 42538383 A G snp 198.77 0/1 99 22 9 13 0.59 exonic GXYLT1 AU synonymous SNV NM_001099650 exon1 c.T66C p.A22A Uncertain 12_42538386_G->A 12 42538386 42538386 G A snp 165.77 0/1 99 21 9 12 0.57 exonic GXYLT1 AU synonymous SNV NM_001099650 exon1 c.C63T p.Y21Y Uncertain 12_42538395_C->G 12 42538395 42538395 C G snp 154.77 0/1 99 19 9 10 0.53 exonic GXYLT1 AU synonymous SNV NM_001099650 exon1 c.G54C p.S18S Uncertain 12_42538406_C->T 12 42538406 42538406 C T snp 112.77 0/1 99 15 9 6 0.4 exonic GXYLT1 AU nonsynonymous SNV NM_001099650 exon1 c.G43A p.G15S 0.37 T 0.993 D -1.077 T 0.899 T 0.196 P Pathogenic 12_42538412_C->T 12 42538412 42538412 C T snp 113.77 0/1 99 13 7 6 0.46 exonic GXYLT1 AU nonsynonymous SNV NM_001099650 exon1 c.G37A p.A13T 0.23 T 0.946 N -1.046 T 0.065 T 0.051 T Pathogenic 12_42538415_C->G 12 42538415 42538415 C G snp 76.77 0/1 99 12 7 5 0.42 exonic GXYLT1 AU nonsynonymous SNV NM_001099650 exon1 c.G34C p.V12L 0.86 T 1.000 N -0.998 T 0.0 T 0.0 T Pathogenic 12_42538423_A->G 12 42538423 42538423 A G snp 72.77 0/1 99 11 6 5 0.45 exonic GXYLT1 AU nonsynonymous SNV NM_001099650 exon1 c.T26C p.V9A 1 T 1.000 N -1.025 T 0.009 T 0.007 T Pathogenic 12_42629550_T->C 12 42629550 42629550 T C snp 721.77 1/1 54 29 0 29 1.0 UTR3 rs7960176 YAF2 AU 0.80611 0.8353 0.7443 0.8351 Uncertain 12_42632354_C->A 12 42632354 42632354 C A snp 243.77 0/1 99 18 6 12 0.67 upstream rs75085410 YAF2 AU 0.21226 0.1478 Uncertain 12_42717724_-->A 12 42717724 42717724 - A indel 96.73 0/1 99 30 19 11 0.37 intronic rs199988703 ZCRB1 AU NM_033114 exon7 c.10952-96insA Uncertain 12_42717811_A->T 12 42717811 42717811 A T snp 2790.77 0/1 99 250 123 127 0.51 intronic rs17091074 ZCRB1 AU NM_033114 exon7 c.10952-9A>T 0.353435 0.3065 0.317700 0.2646 0.3166 Uncertain 12_42718013_T->C 12 42718013 42718013 T C snp 205.84 1/1 18 6 0 6 1.0 intronic rs3747558 ZCRB1 AU NM_033114 exon7 c.11038+107T>C 0.605631 0.5625 Uncertain 12_42729891_T->G 12 42729891 42729891 T G snp 2831.77 1/1 99 90 0 90 1.0 intronic rs7296357 PPHLN1 AU NM_201439 exon2 c.72+115T>G 0.60623 0.5625 Uncertain 12_42729963_A->T 12 42729963 42729963 A T snp 83.77 0/1 67 5 2 3 0.6 intronic rs61375966 PPHLN1 AU NM_201439 exon2 c.72+187A>T 0.181709 0.1498 Uncertain 12_42737635_T->C 12 42737635 42737635 T C snp 641.77 0/1 99 56 29 27 0.48 intronic rs61471584 PPHLN1 AU NM_201439 exon2 c.72+7859T>C 0.18111 0.1498 0.1868 0.1538 Uncertain 12_42737665_G->A 12 42737665 42737665 G A snp 667.77 0/1 99 58 28 30 0.52 intronic rs59844371 PPHLN1 AU NM_201439 exon2 c.72+7889G>A 0.185903 0.1498 0.1891 0.1515 Uncertain 12_42737739_A->G 12 42737739 42737739 A G snp 305.77 0/1 99 24 9 15 0.63 intronic rs58826545 PPHLN1 AU NM_201439 exon3 c.15982-7947A>G 0.18111 0.1498 0.1880 0.1515 Uncertain 12_42737838_G->A 12 42737838 42737838 G A snp 96.28 1/1 9 3 0 3 1.0 intronic rs60846704 PPHLN1 AU NM_201439 exon3 c.15982-7848G>A 0.18111 0.1498 Uncertain 12_42749072_T->C 12 42749072 42749072 T C snp 309.77 0/1 99 31 15 16 0.52 intronic rs17091102 PPHLN1 AU NM_201439 exon4 c.19320+48T>C 0.18151 0.1498 0.162617 0.1659 0.1713 Uncertain 12_42768647_TT->- 12 42768647 42768648 TT - indel 260.73 0/1 43 13 4 9 0.69 intronic PPHLN1 AU NM_201439 exon5 c.38960-17_38960-16delTT 0.0146 0.1095 Uncertain 12_42778922_G->A 12 42778922 42778922 G A snp 3018.77 1/1 99 102 0 102 1.0 intronic rs1669906 PPHLN1 AU NM_201439 exon6 c.49094+124G>A 0.980232 1 Uncertain 12_42781178_A->T 12 42781178 42781178 A T snp 43.77 0/1 72 7 4 3 0.43 intronic rs2243465 PPHLN1 AU NM_201439 exon7 c.51553-79A>T 0.251398 0.2569 Uncertain 12_42787579_A->G 12 42787579 42787579 A G snp 272.77 0/1 99 19 10 9 0.47 intronic rs1376931 PPHLN1 AU NM_201439 exon8 c.57787+88A>G 0.257987 0.2569 Uncertain 12_42836270_A->G 12 42836270 42836270 A G snp 245.77 0/1 99 26 17 9 0.35 intronic rs1452104 PPHLN1 AU NM_001143787 exon10 c.106738-172A>G 0.221046 0.1508 Uncertain 12_42838886_C->T 12 42838886 42838886 C T snp 1154.77 0/1 99 105 54 51 0.49 intronic rs142196692 PPHLN1 AU NM_001143787 exon11 c.110070-888C>T 0.028155 0.0774 0.0221 0.0985 0 D 1 N -1.049 T 0.001 T 0.0 T Uncertain 12_42839836_A->C 12 42839836 42839836 A C snp 5601.77 1/1 99 215 1 214 1.0 exonic rs1669885 PPHLN1 AU nonsynonymous SNV NM_001143787 exon11 c.A1022C p.Q341P 0.96266 1 0.9892 1 1 T 0.0 P -0.865 T 0.0 T 0.0 T Pathogenic 12_42853059_T->- 12 42853059 42853059 T - indel 172.73 0/1 99 18 9 9 0.5 UTR3 rs398019285 PRICKLE1 AR 0.6711 0.6667 Uncertain 12_42853084_C->A 12 42853084 42853084 C A snp 558.77 0/1 99 38 16 22 0.58 UTR3 rs12658 PRICKLE1 AR 0.30012 0.3085 0.2467 0.25 Uncertain 12_42853520_A->G 12 42853520 42853520 A G snp 379.77 0/1 99 21 8 13 0.62 UTR3 rs1043652 PRICKLE1 AR 0.721046 0.744 Uncertain 12_42853871_G->A 12 42853871 42853871 G A snp 943.77 0/1 99 110 67 43 0.39 exonic rs3827522 PRICKLE1 AR nonsynonymous SNV NM_153026 exon8 c.C2236T p.P746S 0.0201677 0.0724 0.001615 0.0101 0.0864 0.02 T 1.000 N -0.885 T 0.037 T 0.009 T CLINSIG=non-pathogenic;CLNDBN=not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000127609.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Pathogenic 12_42854205_A->G 12 42854205 42854205 A G snp 1771.77 0/1 99 183 106 77 0.42 exonic rs3747562 PRICKLE1 AR synonymous SNV NM_153026 exon8 c.T1902C p.S634S 0.429313 0.4137 0.435261 0.4385 0.4177 Uncertain 12_42854208_A->G 12 42854208 42854208 A G snp 1704.77 0/1 99 187 110 77 0.41 exonic rs3747563 PRICKLE1 AR synonymous SNV NM_153026 exon8 c.T1899C p.F633F 0.270567 0.256 0.299862 0.3459 0.2718 Uncertain 12_42862750_T->G 12 42862750 42862750 T G snp 707.77 1/1 54 20 0 20 1.0 intronic rs2708062 PRICKLE1 AR NM_001144883 exon4 c.9021+119T>G 0.963858 1 Uncertain 12_42863171_C->G 12 42863171 42863171 C G snp 54.74 1/1 6 2 0 2 1.0 intronic rs67217830 PRICKLE1 AR NM_001144883 exon5 c.9641-80C>G 0.154353 0.1984 Uncertain 12_42863266_C->T 12 42863266 42863266 C T snp 621.77 0/1 99 52 26 26 0.5 exonic rs79087668 PRICKLE1 AR nonsynonymous SNV NM_153026 exon4 c.G370A p.A124T 0.0273562 0.0774 0.001692 0.0135 0.0924 0.21 T 1.000 D -0.892 T 0.002 T 0.006 T CLINSIG=non-pathogenic;CLNDBN=not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000127600.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Pathogenic 12_42864236_C->A 12 42864236 42864236 C A snp 1219.77 0/1 99 102 53 49 0.48 intronic rs77568691 PRICKLE1 AR NM_001144883 exon6 c.10551+75C>A 0.0403355 0.0774 Uncertain 12_42866065_A->G 12 42866065 42866065 A G snp 192.77 0/1 99 13 6 7 0.54 intronic rs2305422 PRICKLE1 AR NM_001144883 exon7 c.12576-121A>G 0.168331 0.1528 Uncertain 12_43769718_A->G 12 43769718 43769718 A G snp 1165.77 1/1 87 32 0 32 1.0 intronic rs7972295 ADAMTS20 AU NM_025003 exon5 c.21848-141A>G 0.855232 0.998 Uncertain 12_43817445_C->T 12 43817445 43817445 C T snp 359.78 1/1 27 12 0 12 1.0 intronic rs6582463 ADAMTS20 AU NM_025003 exon12 c.71305-1871C>T 0.865615 0.998 Uncertain 12_43819298_G->A 12 43819298 43819298 G A snp 4483.77 1/1 99 161 0 161 1.0 intronic rs10785430 ADAMTS20 AU NM_025003 exon12 c.71305-18G>A 0.661741 0.8611 0.569353 0.5941 0.8587 Uncertain 12_43823316_C->T 12 43823316 43823316 C T snp 1624.77 1/1 99 48 0 48 1.0 intronic rs12308771 ADAMTS20 AU NM_025003 exon16 c.75408-103C>T 0.186502 0.1687 Uncertain 12_43824042_G->T 12 43824042 43824042 G T snp 580.77 1/1 45 17 0 17 1.0 intronic rs10880489 ADAMTS20 AU NM_025003 exon17 c.76143-112G>T 0.441294 0.7639 Uncertain 12_43824316_A->G 12 43824316 43824316 A G snp 1640.77 1/1 99 47 0 47 1.0 intronic rs11182071 ADAMTS20 AU NM_025003 exon17 c.76263+42A>G 0.427716 0.7639 0.308982 0.4058 0.7630 Uncertain 12_43825415_G->T 12 43825415 43825415 G T snp 161.77 0/1 63 7 2 5 0.71 intronic rs2201465 ADAMTS20 AU NM_025003 exon18 c.77288+116G>T 0.251797 0.2728 Uncertain 12_43827507_ACACACACAC->- 12 43827507 43827516 ACACACACAC - indel 363.87 1/1 15 5 0 5 1.0 intronic rs140835441 ADAMTS20 AU NM_025003 exon21 c.80036-540_80036-531delACACACACAC 0.98143 0.9732 Uncertain 12_43846272_C->T 12 43846272 43846272 C T snp 3931.77 1/1 99 130 0 130 1.0 intronic rs7307955 ADAMTS20 AU NM_025003 exon27 c.98305-44C>T 0.872604 0.998 0.775608 0.7568 0.9967 Uncertain 12_43847941_C->T 12 43847941 43847941 C T snp 368.77 1/1 30 11 0 11 1.0 intronic rs6582464 ADAMTS20 AU NM_025003 exon28 c.99844+86C>T 0.57508 0.8998 Uncertain 12_43860526_A->G 12 43860526 43860526 A G snp 2013.77 1/1 99 82 0 82 1.0 exonic rs11182088 ADAMTS20 AU synonymous SNV NM_025003 exon9 c.T1296C p.P432P 0.431709 0.7629 0.312442 0.3771 0.7561 Uncertain 12_43886199_G->- 12 43886199 43886199 G - indel 228.92 0/1 5 14 5 9 0.64 intronic rs371822044 ADAMTS20 AU NM_025003 exon34 c.138296-108delG Uncertain 12_43886199_-->AAAAA 12 43886199 43886199 - AAAAA indel 830.73 1/1 48 16 0 16 1.0 intronic rs398019322 ADAMTS20 AU NM_025003 exon34 c.138296-108insAAAAA 0.418131 0.744 Uncertain 12_43945603_A->C 12 43945603 43945603 A C snp 5309.77 1/1 99 194 0 194 1.0 intronic rs275602 ADAMTS20 AU NM_025003 exon39 c.197622-30A>C 0.926717 0.9921 0.920344 0.9702 0.9983 Uncertain 12_44164689_G->A 12 44164689 44164689 G A snp 288.77 0/1 99 46 30 16 0.35 intronic rs1461567 IRAK4 AU NM_001114182 exon4 c.3108-333G>A 0.258586 0.4355 Uncertain 12_44177614_A->G 12 44177614 44177614 A G snp 323.77 0/1 99 22 9 13 0.59 intronic rs148734528 IRAK4 AU NM_001145257 exon9 c.11480+87A>G 0.00519169 0.0258 Uncertain 12_44196407_T->C 12 44196407 44196407 T C snp 227.84 1/1 18 7 0 7 1.0 intronic rs10880568 TWF1 AU NM_001242397 exon8 c.6880+140T>C 0.483826 0.5575 Uncertain 12_44338153_T->A 12 44338153 44338153 T A snp 1521.77 1/1 99 57 0 57 1.0 intronic rs6582491 TMEM117 AU NM_032256 exon3 c.99691+8T>A 0.982228 1 0.982777 0.9951 1 Uncertain 12_44403842_C->T 12 44403842 44403842 C T snp 947.77 1/1 69 30 0 30 1.0 intronic rs2638849 TMEM117 AU NM_032256 exon3 c.99691+65697C>T 0.902955 0.9375 Uncertain 12_44902573_A->G 12 44902573 44902573 A G snp 165.77 0/1 99 27 20 7 0.26 UTR3 rs1377002 NELL2 AU 0.304912 0.5863 Uncertain 12_44926334_T->A 12 44926334 44926334 T A snp 3222.65 1/1 99 109 0 109 1.0 intronic rs2270479 NELL2 AU NM_001145109 exon5 c.23647-29T>A 0.430711 0.6716 0.364755 0.4807 0.6391 Uncertain 12_45004824_G->A 12 45004824 45004824 G A snp 323.77 0/1 99 19 9 10 0.53 intronic rs2305448 NELL2 AU NM_001145109 exon7 c.102037+71G>A 0.644569 0.7391 Uncertain 12_45170006_T->C 12 45170006 45170006 T C snp 3193.69 1/1 99 121 1 120 0.99 intronic rs4768572 NELL2 AU NM_001145109 exon13 c.267217+73T>C 0.973243 1 Uncertain 12_45269284_C->T 12 45269284 45269284 C T snp 411.77 0/1 99 67 45 22 0.33 splicing rs7295923 NELL2 AU NM_001145109 exon20 c.366573-5C>T 0.401158 0.4851 0.326602 0.3771 0.4725 Pathogenic 12_45269703_A->T 12 45269703 45269703 A T snp 1487.77 1/1 99 57 0 57 1.0 UTR5 rs2272517 NELL2 AU 0.176318 0.2579 0.150700 0.2012 0.2419 Uncertain 12_45410075_A->G 12 45410075 45410075 A G snp 5337.77 1/1 99 186 0 186 1.0 exonic rs1224442 DBX2 AU synonymous SNV NM_001004329 exon4 c.T1014C p.A338A 0.734225 0.7887 0.617946 0.6691 0.8142 Uncertain 12_45417666_T->C 12 45417666 45417666 T C snp 3233.06 1/1 99 113 0 113 1.0 exonic rs2731038 DBX2 AU nonsynonymous SNV NM_001004329 exon3 c.A511G p.M171V 0.725839 0.8075 0.599262 0.6662 0.8329 1 T 0.0 P -0.946 T 0.0 T 0.0 T Pathogenic 12_45444238_T->A 12 45444238 45444238 T A snp 300.78 1/1 24 13 0 13 1.0 intronic rs11182810 DBX2 AU NM_001004329 exon4 c.34239-69T>A 0.432907 0.3562 Uncertain 12_45444264_G->C 12 45444264 45444264 G C snp 561.77 1/1 42 21 0 21 1.0 intronic rs11182811 DBX2 AU NM_001004329 exon4 c.34239-43G>C 0.432708 0.3562 0.378401 0.5940 0.4281 Uncertain 12_45664213_G->A 12 45664213 45664213 G A snp 1546.77 1/1 99 59 0 59 1.0 intronic rs10748415 ANO6 AR NM_001204803 exon2 c.54140-31G>A 0.985623 0.999 0.9975 1 Uncertain 12_45686938_T->C 12 45686938 45686938 T C snp 43.77 0/1 66 4 2 2 0.5 intronic rs138872097 ANO6 AR NM_001142678 exon1 c.16+221T>C 0.00299521 0.0149 Uncertain 12_45695735_C->A 12 45695735 45695735 C A snp 4098.77 1/1 99 141 0 141 1.0 intronic rs4140756 ANO6 AR NM_001204803 exon3 c.85692-61C>A 0.921925 1 Uncertain 12_46317004_T->A 12 46317004 46317004 T A snp 450.77 0/1 99 28 11 17 0.61 intronic rs1062905 SCAF11 AU NM_004719 exon3 c.1107+67T>A 0.297125 0.3472 Uncertain 12_46321514_A->T 12 46321514 46321514 A T snp 1538.77 0/1 99 90 36 54 0.6 exonic rs7315731 SCAF11 AU nonsynonymous SNV NM_004719 exon11 c.T1970A p.F657Y 0.389976 0.5397 0.389572 0.4578 0.5492 0.09 T 0.0 P -0.915 T 0.671 T 0.328 P Pathogenic 12_46367903_T->C 12 46367903 46367903 T C snp 630.77 0/1 99 49 20 29 0.59 intronic rs10880879 SCAF11 AU NM_004719 exon14 c.42141+9932T>C 0.408347 0.5407 Uncertain 12_46367939_G->T 12 46367939 46367939 G T snp 740.77 0/1 99 59 25 34 0.58 intronic rs11183268 SCAF11 AU NM_004719 exon14 c.42141+9968G>T 0.378195 0.5407 0.4905 0.5597 Uncertain 12_46367944_A->G 12 46367944 46367944 A G snp 569.77 0/1 99 62 36 26 0.42 intronic rs11183269 SCAF11 AU NM_004719 exon14 c.42141+9973A>G 0.297324 0.3462 0.3029 0.2934 Uncertain 12_46385815_C->T 12 46385815 46385815 C T snp 1730.77 0/1 99 132 58 74 0.56 intergenic rs11574952 SCAF11 AU 0.266174 0.4048 0.3234 0.3738 Uncertain 12_46582540_T->A 12 46582540 46582540 T A snp 560.77 1/1 42 14 0 14 1.0 UTR3 rs1045278 SLC38A1 AU 0.539936 0.4246 Uncertain 12_46591906_T->C 12 46591906 46591906 T C snp 675.77 1/1 51 21 0 21 1.0 intronic rs7954255 SLC38A1 AU NM_030674 exon3 c.9091+63T>C 0.541534 0.4167 Uncertain 12_46591907_G->A 12 46591907 46591907 G A snp 309.77 0/1 99 21 10 11 0.52 intronic rs80046507 SLC38A1 AU NM_030674 exon3 c.9091+64G>A 0.0545128 0.0556 Uncertain 12_46601056_C->T 12 46601056 46601056 C T snp 2260.77 1/1 99 89 0 89 1.0 intronic rs2289768 SLC38A1 AU NM_030674 exon10 c.18267+37C>T 0.49401 0.3929 0.492174 0.4535 0.4188 Uncertain 12_46633328_G->T 12 46633328 46633328 G T snp 300.77 0/1 99 17 6 11 0.65 intronic rs7959095 SLC38A1 AU NM_030674 exon15 c.50709-133G>T 0.515775 0.4544 Uncertain 12_46755112_A->T 12 46755112 46755112 A T snp 466.77 1/1 36 13 0 13 1.0 intronic rs7961994 SLC38A2 AU NM_018976 exon1 c.99+120A>T 0.754792 0.8016 Uncertain 12_46755127_C->A 12 46755127 46755127 C A snp 172.9 1/1 15 6 0 6 1.0 intronic rs57271454 SLC38A2 AU NM_018976 exon1 c.99+135C>A 0.107228 0.2401 Uncertain 12_46756217_A->C 12 46756217 46756217 A C snp 2890.77 1/1 99 96 0 96 1.0 intronic rs2307063 SLC38A2 AU NM_018976 exon2 c.1271+53A>C 0.107228 0.2401 0.049058 Uncertain 12_46756239_T->C 12 46756239 46756239 T C snp 3082.77 1/1 99 105 0 105 1.0 intronic rs2307062 SLC38A2 AU NM_018976 exon3 c.1383-37T>C 0.0820687 0.2401 0.029294 0.0324 0.2671 Uncertain 12_46758144_TTT->- 12 46758144 46758146 TTT - indel 2857.73 1/1 99 48 0 48 1.0 intronic rs3837525 SLC38A2 AU NM_018976 exon7 c.3278-27_3278-25delTTT 0.0764776 0.2401 0.024457 0.0311 0.2676 Uncertain 12_46758494_A->G 12 46758494 46758494 A G snp 2055.77 1/1 99 82 2 80 0.98 intronic rs2307061 SLC38A2 AU NM_018976 exon8 c.3592+9A>G 0.759385 0.8006 0.713659 0.6641 0.8156 Uncertain 12_46758945_C->T 12 46758945 46758945 C T snp 1217.77 0/1 99 135 75 60 0.44 exonic rs139181186 SLC38A2 AU synonymous SNV NM_018976 exon8 c.G591A p.L197L 0.00579073 0.0258 0.000077 0.0028 0.0375 Uncertain 12_46759017_T->A 12 46759017 46759017 T A snp 1620.77 1/1 99 55 0 55 1.0 intronic rs7968173 SLC38A2 AU NM_018976 exon9 c.4079+45T>A 0.757588 0.8016 0.714824 0.6749 0.8196 Uncertain 12_46761127_G->A 12 46761127 46761127 G A snp 1167.77 1/1 84 40 0 40 1.0 splicing rs10880959 SLC38A2 AU NM_018976 exon12 c.6230+4G>A 0.757188 0.8006 0.714857 0.6638 0.8159 Pathogenic 12_47159123_A->G 12 47159123 47159123 A G snp 1493.77 1/1 99 60 0 60 1.0 UTR3 rs4768756 SLC38A4 AU 0.992412 1 Uncertain 12_47162938_T->G 12 47162938 47162938 T G snp 1894.77 1/1 99 62 0 62 1.0 intronic rs2216433 SLC38A4 AU NM_018018 exon3 c.2583-128T>G 0.992412 1 Uncertain 12_47168898_G->A 12 47168898 47168898 G A snp 2728.77 1/1 99 100 0 100 1.0 exonic rs180414 SLC38A4 AU synonymous SNV NM_001143824 exon13 c.C1233T p.P411P 0.997404 1 0.996924 0.9992 1 Uncertain 12_47182279_C->T 12 47182279 47182279 C T snp 6143.77 1/1 99 217 1 216 1.0 intronic rs2302855 SLC38A4 AU NM_018018 exon14 c.21827-31C>T 0.0932508 0.244 0.031918 0.0764 0.2794 Uncertain 12_47182405_-->AC 12 47182405 47182405 - AC indel 3607.73 1/1 99 115 2 113 0.98 splicing rs144734760 SLC38A4 AU NM_018018 exon14 c.21918+4insAC 0.10623 0.244 0.0923 0.2552 Pathogenic 12_47186770_C->T 12 47186770 47186770 C T snp 7764.77 1/1 99 250 0 250 1.0 exonic rs2429467 SLC38A4 AU nonsynonymous SNV NM_001143824 exon2 c.G85A p.G29R 0.136581 0.245 0.044287 0.1118 0.2768 0.61 T 0.0 P -1.004 T 0.345 T 0.022 T Pathogenic 12_47471439_G->A 12 47471439 47471439 G A snp 3360.77 0/1 99 230 101 129 0.56 exonic rs2269828 AMIGO2 AU synonymous SNV NM_181847 exon2 c.C1347T p.P449P 0.221645 0.124 0.272490 0.2770 0.0847 Uncertain 12_47581629_T->C 12 47581629 47581629 T C snp 1445.77 1/1 99 49 0 49 1.0 ncRNA_exonic rs832733 MIR4698 AU 0.754193 0.7857 1 1 Uncertain 12_47629368_G->T 12 47629368 47629368 G T snp 2530.77 0/1 99 225 119 106 0.47 exonic rs2244818 PCED1B AU synonymous SNV NM_001281429 exon3 c.G522T p.G174G 0.148163 0.12 0.166692 0.1570 0.1356 Uncertain 12_47758032_A->G 12 47758032 47758032 A G snp 1816.77 1/1 99 48 0 48 1.0 ncRNA_exonic rs215383 MIR4494 AU 0.900958 0.9792 0.5 . Uncertain 12_47761212_G->A 12 47761212 47761212 G A snp 3713.77 1/1 99 139 0 139 1.0 intergenic rs58616 MIR4494 AU 0.358427 0.4911 0.349494 0.4041 0.5281 Uncertain 12_47761313_-->T 12 47761313 47761313 - T indel 1565.73 1/1 99 82 0 82 1.0 intergenic rs11419253 MIR4494 AU 0.706869 0.8621 Uncertain 12_48063770_T->C 12 48063770 48063770 T C snp 164.78 0/1 24 6 1 5 0.83 intronic rs187476938 RPAP3 AU NM_001146075 exon5 c.6602-119T>C 0.000199681 0.001 Uncertain 12_48073616_G->A 12 48073616 48073616 G A snp 118.77 0/1 99 12 6 6 0.5 intronic rs74085975 RPAP3 AU NM_001146075 exon6 c.16270+59G>A 0.0241613 0.0129 Uncertain 12_48080730_T->A 12 48080730 48080730 T A snp 233.77 0/1 99 31 21 10 0.32 intronic rs10875680 RPAP3 AU NM_001146075 exon8 c.23403+40T>A 0.210663 0.1637 0.107434 0.1692 0.1578 Uncertain 12_48081539_C->T 12 48081539 48081539 C T snp 691.77 0/1 99 32 11 21 0.66 intronic rs7136422 RPAP3 AU NM_001146075 exon9 c.24371-119C>T 0.552316 0.4355 Uncertain 12_48096730_A->C 12 48096730 48096730 A C snp 175.77 0/1 99 15 8 7 0.47 intronic rs2057730 RPAP3 AU NM_001146075 exon15 c.39342+101A>C 0.202676 0.1617 Uncertain 12_48104746_G->C 12 48104746 48104746 G C snp 686.77 1/1 51 21 0 21 1.0 intronic rs1235152 ENDOU AU NM_006025 exon1 c.118+44G>C 0.786542 0.8244 0.776642 0.8130 0.8272 Uncertain 12_48110325_A->G 12 48110325 48110325 A G snp 437.77 1/1 33 14 0 14 1.0 intronic rs1235153 ENDOU AU NM_006025 exon5 c.5698+43A>G 0.979633 1 0.969702 0.9637 0.9999 Uncertain 12_48114761_C->G 12 48114761 48114761 C G snp 560.77 0/1 99 43 21 22 0.51 intronic rs929269 ENDOU AU NM_001172439 exon9 c.10074+103C>G 0.183506 0.1389 Uncertain 12_48132451_T->C 12 48132451 48132451 T C snp 1040.77 0/1 99 93 46 47 0.51 intronic rs2072116 RAPGEF3 AU NM_006105 exon4 c.1123-21T>C 0.909744 0.9772 0.850607 0.8734 0.9837 Uncertain 12_48140381_T->C 12 48140381 48140381 T C snp 155.77 0/1 57 9 4 5 0.56 intronic rs11168223 RAPGEF3 AU NM_006105 exon13 c.9293-261T>C 0.159944 0.2242 Uncertain 12_48141456_C->T 12 48141456 48141456 C T snp 2552.77 0/1 99 233 123 110 0.47 intronic rs116937941 RAPGEF3 AU NM_006105 exon15 c.10145-38C>T 0.0061901 0.0288 0.0020 0.0250 Uncertain 12_48142026_C->A 12 48142026 48142026 C A snp 131.77 0/1 99 19 14 5 0.26 intronic rs73105859 RAPGEF3 AU NM_006105 exon16 c.10586+91C>A 0.0523163 0.0268 Uncertain 12_48142418_C->G 12 48142418 48142418 C G snp 997.77 1/1 72 35 0 35 1.0 intronic rs757281 RAPGEF3 AU NM_006105 exon17 c.10976+93C>G 0.807308 0.9494 Uncertain 12_48143095_-->CTCTGGT 12 48143095 48143095 - CTCTGGT indel 2261.73 0/1 99 62 36 26 0.42 intronic rs149061709 RAPGEF3 AU NM_006105 exon19 c.11823-77insCTCTGGT 0.504992 0.5794 0.5665 0.5638 Uncertain 12_48144243_A->C 12 48144243 48144243 A C snp 1216.77 1/1 87 43 0 43 1.0 intronic rs757279 RAPGEF3 AU NM_006105 exon22 c.12859+35A>C 0.809505 0.9494 0.802538 0.8100 0.9451 Uncertain 12_48144925_T->C 12 48144925 48144925 T C snp 3465.77 1/1 99 127 0 127 1.0 exonic rs2016123 RAPGEF3 AU nonsynonymous SNV NM_001098532 exon5 c.A451G p.R151G 0.9998 1 0.999767 0.9998 1 0.52 T 0.000 P -0.985 T 0.0 T 0.0 T Pathogenic 12_48145104_G->A 12 48145104 48145104 G A snp 556.77 0/1 99 33 14 19 0.58 intronic rs1018939 RAPGEF3 AU NM_006105 exon24 c.13832-77G>A 0.391973 0.3819 Uncertain 12_48145153_G->A 12 48145153 48145153 G A snp 839.77 0/1 99 49 18 31 0.63 intronic rs757287 RAPGEF3 AU NM_006105 exon24 c.13832-28G>A 0.391773 0.3819 0.328822 0.3564 0.3912 Uncertain 12_48145171_C->T 12 48145171 48145171 C T snp 860.77 0/1 99 62 29 33 0.53 intronic rs757286 RAPGEF3 AU NM_006105 exon24 c.13832-10C>T 0.391973 0.3819 0.330540 0.3557 0.3899 Uncertain 12_48172778_C->G 12 48172778 48172778 C G snp 1445.77 0/1 99 146 80 66 0.45 intronic rs73105899 SLC48A1 AU NM_017842 exon2 c.5723-32C>G 0.0908546 0.0357 0.159439 0.1438 0.0274 Uncertain 12_48174505_A->G 12 48174505 48174505 A G snp 44.74 1/1 6 2 0 2 1.0 UTR3 SLC48A1 AU Uncertain 12_48178127_A->G 12 48178127 48178127 A G snp 3752.77 1/1 99 129 0 129 1.0 intronic rs3192737 HDAC7 AU NM_015401 exon2 c.377+127A>G 0.845248 0.9137 Uncertain 12_48178194_A->G 12 48178194 48178194 A G snp 353.77 0/1 99 22 10 12 0.55 intronic rs7307046 HDAC7 AU NM_015401 exon2 c.377+194A>G 0.685503 0.8829 Uncertain 12_48178465_T->C 12 48178465 48178465 T C snp 5198.77 1/1 99 185 0 185 1.0 intronic rs3815138 HDAC7 AU NM_015401 exon2 c.377+465T>C 0.823283 0.9137 0.7642 0.9318 Uncertain 12_48179044_C->G 12 48179044 48179044 C G snp 59.74 1/1 6 3 0 3 1.0 intronic rs3815133 HDAC7 AU NM_015401 exon3 c.1546-125C>G 0.81869 0.9137 0.7971 0.9315 Uncertain 12_48179048_C->T 12 48179048 48179048 C T snp 59.74 1/1 6 3 0 3 1.0 intronic rs3815132 HDAC7 AU NM_015401 exon3 c.1546-121C>T 0.36901 0.376 0.3482 0.3849 Uncertain 12_48179402_C->T 12 48179402 48179402 C T snp 1290.77 1/1 96 38 0 38 1.0 intronic rs3815131 HDAC7 AU NM_015401 exon4 c.1911-132C>T 0.372204 0.379 Uncertain 12_48179463_C->T 12 48179463 48179463 C T snp 1624.77 1/1 99 59 0 59 1.0 intronic rs3815130 HDAC7 AU NM_015401 exon4 c.1911-71C>T 0.360623 0.378 0.4489 0.4924 Uncertain 12_48180508_C->T 12 48180508 48180508 C T snp 2155.77 0/1 99 201 108 93 0.46 intronic rs2240108 HDAC7 AU NM_015401 exon5 c.2863+22C>T 0.0628994 0.0317 0.110872 0.1033 0.0151 Uncertain 12_48181778_T->C 12 48181778 48181778 T C snp 2332.77 0/1 99 203 104 99 0.49 intronic rs6580637 HDAC7 AU NM_015401 exon7 c.4204-49T>C 0.84345 0.9534 0.757035 0.7850 0.9550 Uncertain 12_48185167_G->C 12 48185167 48185167 G C snp 3684.77 1/1 99 137 0 137 1.0 intronic rs11832133 HDAC7 AU NM_015401 exon11 c.7468+76G>C 0.778754 0.9613 0.685940 Uncertain 12_48238837_C->A 12 48238837 48238837 C A snp 559.77 1/1 42 17 0 17 1.0 intronic rs7975232 VDR AR,AD NM_000376 exon1 c.260+49C>A 0.515375 0.2907 0.562212 0.5187 0.2778 Uncertain 12_48251533_C->T 12 48251533 48251533 C T snp 534.77 0/1 99 30 8 22 0.73 intronic rs11168266 VDR AR,AD NM_000376 exon6 c.12943+62C>T 0.51278 0.3214 Uncertain 12_48251542_G->A 12 48251542 48251542 G A snp 430.77 0/1 99 22 7 15 0.68 intronic rs11168267 VDR AR,AD NM_000376 exon6 c.12943+71G>A 0.103435 0.1954 Uncertain 12_48259126_C->T 12 48259126 48259126 C T snp 1419.77 1/1 99 40 0 40 1.0 intronic rs12717991 VDR AR,AD NM_000376 exon7 c.20432+166C>T 0.422125 0.6984 Uncertain 12_48295133_C->T 12 48295133 48295133 C T snp 2575.77 0/1 99 249 144 105 0.42 intronic rs12581281 VDR AR,AD NM_001017535 exon10 c.55213+1392C>T 0.0672923 0.1389 Uncertain 12_48298295_A->G 12 48298295 48298295 A G snp 997.77 0/1 99 75 39 36 0.48 intronic rs11574012 VDR AR,AD NM_001017536 exon10 c.59818-51A>G 0.0638978 0.1399 Uncertain 12_48358279_C->A 12 48358279 48358279 C A snp 461.77 0/1 99 25 7 18 0.72 intronic rs11609253 TMEM106C AU NM_001143841 exon2 c.187+73C>A 0.68151 0.8304 0.5996 0.8280 Uncertain 12_48359527_G->A 12 48359527 48359527 G A snp 54.74 1/1 6 3 0 3 1.0 intronic rs7964582 TMEM106C AU NM_001143841 exon4 c.1601-93G>A 0.786941 0.9812 Uncertain 12_48360620_A->G 12 48360620 48360620 A G snp 386.77 0/1 99 26 11 15 0.58 intronic rs2286024 TMEM106C AU NM_001143841 exon6 c.2496+105A>G 0.660743 0.8274 Uncertain 12_48367829_G->A 12 48367829 48367829 G A snp 1286.77 0/1 99 129 68 61 0.47 intronic rs1635560 COL2A1 AR,AD,AU NM_001844 exon2 c.682-42G>A 0.223043 0.2073 0.229971 0.2248 0.1971 Uncertain 12_48371595_G->A 12 48371595 48371595 G A snp 1638.77 0/1 99 113 53 60 0.53 intronic rs1793949 COL2A1 AR,AD,AU NM_001844 exon10 c.4247+159G>A 0.317492 0.4325 Uncertain 12_48373181_A->G 12 48373181 48373181 A G snp 1200.77 0/1 99 102 49 53 0.52 intronic rs12368284 COL2A1 AR,AD,AU NM_001844 exon14 c.6104-112A>G 0.23742 0.122 Uncertain 12_48373718_-->C 12 48373718 48373718 - C indel 1317.73 1/1 99 38 0 38 1.0 intronic rs11443755 COL2A1 AR,AD,AU NM_001844 exon15 c.6602-73insC 0.908128 Uncertain 12_48374513_A->G 12 48374513 48374513 A G snp 2966.77 1/1 99 105 0 105 1.0 intronic rs1635554 COL2A1 AR,AD,AU NM_001844 exon16 c.7255+69A>G 0.935304 0.996 Uncertain 12_48374770_T->G 12 48374770 48374770 T G snp 690.77 0/1 99 40 16 24 0.6 intronic rs200042189 COL2A1 AR,AD,AU NM_001844 exon17 c.7562+19T>G 0.000399361 0.002 0.0002 0.0033 Uncertain 12_48374826_T->G 12 48374826 48374826 T G snp 265.77 0/1 99 15 6 9 0.6 intronic rs2276458 COL2A1 AR,AD,AU NM_001844 exon17 c.7562+75T>G 0.319888 0.4315 0.345443 Uncertain 12_48375475_C->G 12 48375475 48375475 C G snp 375.77 0/1 99 57 38 19 0.33 intronic rs1793937 COL2A1 AR,AD,AU NM_001844 exon19 c.8369-83C>G 0.304712 0.4355 Uncertain 12_48375568_A->G 12 48375568 48375568 A G snp 2321.77 1/1 99 88 0 88 1.0 exonic rs1635553 COL2A1 AR,AD,AU synonymous SNV NM_001844 exon36 c.T2400C p.N800N 0.482827 0.5476 0.452787 0.4896 0.5703 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000079724.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 12_48375965_C->T 12 48375965 48375965 C T snp 1856.77 1/1 99 71 0 71 1.0 intronic rs2276457 COL2A1 AR,AD,AU NM_001844 exon20 c.8754+22C>T 0.446286 0.5556 0.389974 0.3770 0.5938 Uncertain 12_48375975_A->G 12 48375975 48375975 A G snp 1548.77 1/1 72 62 1 61 0.98 intronic rs2276456 COL2A1 AR,AD,AU NM_001844 exon20 c.8754+32A>G 0.473243 0.5575 0.421421 0.3900 0.5973 Uncertain 12_48376137_G->A 12 48376137 48376137 G A snp 1634.77 1/1 99 52 1 51 0.98 intronic rs2276455 COL2A1 AR,AD,AU NM_001844 exon21 c.9095-147G>A 0.427915 0.5565 Uncertain 12_48376291_G->A 12 48376291 48376291 G A snp 4439.77 1/1 99 164 0 164 1.0 exonic rs2276454 COL2A1 AR,AD,AU synonymous SNV NM_001844 exon34 c.C2295T p.G765G 0.429712 0.5556 0.386821 0.3958 0.5968 Uncertain 12_48376443_-->C 12 48376443 48376443 - C indel 1555.73 1/1 99 46 0 46 1.0 intronic rs3842680 COL2A1 AR,AD,AU NM_001844 exon21 c.9203+51insC 0.436418 0.4514 0.5977 Uncertain 12_48376447_A->G 12 48376447 48376447 A G snp 1777.77 1/1 99 47 0 47 1.0 intronic rs3829737 COL2A1 AR,AD,AU NM_001844 exon21 c.9203+55A>G Uncertain 12_48376474_C->A 12 48376474 48376474 C A snp 1069.77 0/1 99 76 36 40 0.53 intronic rs74586113 COL2A1 AR,AD,AU NM_001844 exon21 c.9203+82C>A 0.0397364 0.0734 Uncertain 12_48376503_C->T 12 48376503 48376503 C T snp 3285.77 1/1 99 105 0 105 1.0 intronic rs3829736 COL2A1 AR,AD,AU NM_001844 exon21 c.9203+111C>T 0.455671 0.5536 Uncertain 12_48376530_C->A 12 48376530 48376530 C A snp 4083.77 1/1 99 152 0 152 1.0 intronic rs11168337 COL2A1 AR,AD,AU NM_001844 exon22 c.9441-100C>A 0.501597 0.5694 Uncertain 12_48376599_C->T 12 48376599 48376599 C T snp 3269.77 0/1 99 250 112 138 0.55 intronic rs3829735 COL2A1 AR,AD,AU NM_001844 exon22 c.9441-31C>T 0.0485224 0.1002 0.004925 0.0269 0.1123 Uncertain 12_48377653_T->A 12 48377653 48377653 T A snp 227.77 0/1 99 22 12 10 0.45 intronic rs77169216 COL2A1 AR,AD,AU NM_001844 exon25 c.10330+134T>A 0.0465256 0.0992 Uncertain 12_48377970_A->G 12 48377970 48377970 A G snp 2019.77 1/1 99 78 1 77 0.99 intronic rs1635550 COL2A1 AR,AD,AU NM_001844 exon26 c.10734+47A>G 0.683107 0.5883 0.765959 0.7522 0.6222 Uncertain 12_48379810_G->A 12 48379810 48379810 G A snp 735.77 1/1 54 22 0 22 1.0 intronic rs3829734 COL2A1 AR,AD,AU NM_001844 exon31 c.12559+62G>A 0.389577 0.504 0.346255 Uncertain 12_48379856_T->C 12 48379856 48379856 T C snp 50.74 1/1 6 2 0 2 1.0 intronic rs7963636 COL2A1 AR,AD,AU NM_001844 exon31 c.12559+108T>C 0.511981 0.5258 Uncertain 12_48379961_A->C 12 48379961 48379961 A C snp 1210.77 1/1 87 39 0 39 1.0 intronic rs1635547 COL2A1 AR,AD,AU NM_001844 exon32 c.12929-157A>C 0.484026 0.5357 Uncertain 12_48379964_A->G 12 48379964 48379964 A G snp 1284.77 1/1 93 40 0 40 1.0 intronic rs1635546 COL2A1 AR,AD,AU NM_001844 exon32 c.12929-154A>G 0.483826 0.5357 Uncertain 12_48380031_A->G 12 48380031 48380031 A G snp 2562.77 1/1 99 94 0 94 1.0 intronic rs1635544 COL2A1 AR,AD,AU NM_001844 exon32 c.12929-87A>G 0.486022 0.5377 Uncertain 12_48383235_A->G 12 48383235 48383235 A G snp 646.77 1/1 48 21 0 21 1.0 intronic rs1635537 COL2A1 AR,AD,AU NM_001844 exon37 c.15875+171A>G 0.497404 0.5347 Uncertain 12_48386553_A->G 12 48386553 48386553 A G snp 1736.77 1/1 99 54 0 54 1.0 intronic rs1635534 COL2A1 AR,AD,AU NM_001844 exon39 c.19471-107A>G 0.67472 0.5585 Uncertain 12_48386577_G->T 12 48386577 48386577 G T snp 1748.77 1/1 99 72 0 72 1.0 intronic rs1793915 COL2A1 AR,AD,AU NM_001844 exon39 c.19471-83G>T 0.674521 0.5575 Uncertain 12_48387025_T->A 12 48387025 48387025 T A snp 305.78 1/1 24 9 0 9 1.0 intronic rs1793913 COL2A1 AR,AD,AU NM_001844 exon40 c.20051-215T>A 0.672324 0.5575 Uncertain 12_48387052_A->C 12 48387052 48387052 A C snp 1007.77 1/1 75 27 0 27 1.0 intronic rs1793912 COL2A1 AR,AD,AU NM_001844 exon40 c.20051-188A>C 0.672524 0.5575 Uncertain 12_48387057_G->C 12 48387057 48387057 G C snp 969.77 1/1 72 30 0 30 1.0 intronic rs1793911 COL2A1 AR,AD,AU NM_001844 exon40 c.20051-183G>C 0.509984 0.5466 Uncertain 12_48389245_C->T 12 48389245 48389245 C T snp 549.77 0/1 99 45 22 23 0.51 intronic rs12423250 COL2A1 AR,AD,AU NM_001844 exon44 c.21902+154C>T 0.192891 0.1577 Uncertain 12_48389643_A->C 12 48389643 48389643 A C snp 2625.77 0/1 99 201 87 114 0.57 intronic rs1034762 COL2A1 AR,AD,AU NM_001844 exon46 c.22468-14A>C 0.682708 0.4821 0.820852 0.7489 0.5060 Uncertain 12_48392397_G->A 12 48392397 48392397 G A snp 1522.77 0/1 99 117 53 64 0.55 intronic rs1814231 COL2A1 AR,AD,AU NM_001844 exon52 c.25025+183G>A 0.0469249 0.0863 Uncertain 12_48392433_A->G 12 48392433 48392433 A G snp 1644.77 1/1 99 48 0 48 1.0 intronic rs1793958 COL2A1 AR,AD,AU NM_001844 exon52 c.25025+219A>G 0.482228 0.2579 Uncertain 12_48392478_G->C 12 48392478 48392478 G C snp 224.77 0/1 99 12 5 7 0.58 intronic rs915920 COL2A1 AR,AD,AU NM_001844 exon52 c.25025+264G>C 0.0471246 0.0883 Uncertain 12_48398002_G->C 12 48398002 48398002 G C snp 1932.77 1/1 99 69 2 67 0.97 intronic rs3803184 COL2A1 AR,AD,AU NM_001844 exon54 c.30830-17G>C 0.685903 0.5714 0.784245 0.7712 0.5942 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000079728.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 12_48398080_T->A 12 48398080 48398080 T A snp 1061.77 1/1 44 38 1 37 0.97 exonic rs3803183 COL2A1 AR,AD,AU nonsynonymous SNV NM_001844 exon1 c.A25T p.T9S 0.685304 0.5685 0.789147 0.7726 0.5839 0.9 T 0.000 P -0.948 T 0.0 T 0.001 T CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000079725.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 12_48413634_T->G 12 48413634 48413634 T G snp 99.28 1/1 9 3 0 3 1.0 intergenic rs10875722 COL2A1 AR,AD,AU 0.600439 0.751 Uncertain 12_48413789_-->TATTGT 12 48413789 48413789 - TATTGT indel 13154.7 1/1 99 146 0 146 1.0 intergenic rs113940474 COL2A1 AR,AD,AU 0.60024 0.751 Uncertain 12_48413875_G->A 12 48413875 48413875 G A snp 2641.77 0/1 99 249 127 122 0.49 intergenic rs17122567 COL2A1 AR,AD,AU 0.238019 0.1478 0.1712 0.1591 0 D -0.919 T Uncertain 12_48413944_C->T 12 48413944 48413944 C T snp 4471.77 1/1 99 151 1 150 0.99 intergenic rs7299135 COL2A1 AR,AD,AU 0.59984 0.751 0.4794 0.6940 0 D -1.002 T Uncertain 12_48413950_A->C 12 48413950 48413950 A C snp 3825.77 1/1 99 134 2 132 0.99 intergenic rs28459711 COL2A1 AR,AD,AU 0.601438 0.752 0.4794 0.6894 0 D -1.020 T Uncertain 12_48413979_G->T 12 48413979 48413979 G T snp 2433.77 1/1 99 75 0 75 1.0 intergenic rs7299364 COL2A1 AR,AD,AU 0.600839 0.751 0.4800 0.6894 Uncertain 12_48418556_G->T 12 48418556 48418556 G T snp 218.84 1/1 18 6 0 6 1.0 intergenic rs6580650 COL2A1 AR,AD,AU 0.807308 0.9921 0.7121 1 Uncertain 12_48418710_T->C 12 48418710 48418710 T C snp 960.77 0/1 99 66 33 33 0.5 intergenic rs60275794 COL2A1 AR,AD,AU 0.0537141 0.1091 0.0486 0.1418 Uncertain 12_48419060_A->G 12 48419060 48419060 A G snp 80.77 0/1 87 6 3 3 0.5 intergenic rs11168361 COL2A1 AR,AD,AU 0.179712 0.1389 Uncertain 12_48441593_T->C 12 48441593 48441593 T C snp 264.77 0/1 99 15 7 8 0.53 intronic rs11168373 SENP1 AU NM_001267594 exon4 c.2679-190T>C 0.191294 0.1458 Uncertain 12_48441692_C->G 12 48441692 48441692 C G snp 2246.77 0/1 99 206 110 96 0.47 intronic rs1018973 SENP1 AU NM_001267594 exon4 c.2679-91C>G 0.346845 0.6012 Uncertain 12_48457385_C->T 12 48457385 48457385 C T snp 151.77 0/1 61 8 2 6 0.75 intronic rs3742074 SENP1 AU NM_001267594 exon6 c.18388-107C>T 0.346046 0.5972 Uncertain 12_48459488_C->G 12 48459488 48459488 C G snp 997.77 0/1 99 110 60 50 0.45 intronic rs17122612 SENP1 AU NM_001267594 exon8 c.20359+25C>G 0.346645 0.5972 0.180504 0.2677 0.5903 Uncertain 12_48460563_G->A 12 48460563 48460563 G A snp 235.84 1/1 18 11 0 11 1.0 intronic rs77759793 SENP1 AU NM_001267594 exon9 c.21605-146G>A 0.346046 0.5972 Uncertain 12_48465425_A->C 12 48465425 48465425 A C snp 265.77 0/1 99 20 9 11 0.55 intronic rs72644844 SENP1 AU NM_001267594 exon10 c.26345-24A>C 0.346246 0.5972 0.190138 0.3370 0.6228 Uncertain 12_48468652_A->G 12 48468652 48468652 A G snp 110.77 0/1 99 10 6 4 0.4 intronic rs4258439 SENP1 AU NM_001267594 exon12 c.29472+76A>G 0.603435 0.8423 Uncertain 12_48499131_G->T 12 48499131 48499131 G T snp 1694.77 1/1 99 60 0 60 1.0 intronic rs2408955 SENP1 AU NM_001267595 exon18 c.60135-108G>T Uncertain 12_48499401_G->A 12 48499401 48499401 G A snp 120.77 0/1 69 8 3 5 0.63 UTR5 rs75098984 SENP1 AU 0.0395367 0.0972 Uncertain 12_48501161_A->T 12 48501161 48501161 A T snp 937.77 0/1 99 73 34 39 0.53 intergenic rs11609399 SENP1 AU 0.35623 0.6468 0.187476 0.2663 0.5873 0.05 T 1.000 P -0.924 T Uncertain 12_48501411_A->G 12 48501411 48501411 A G snp 84.77 0/1 99 16 12 4 0.25 intergenic rs10492080 SENP1 AU 0.35623 0.6468 Uncertain 12_48512285_C->A 12 48512285 48512285 C A snp 3723.77 1/1 99 137 1 136 0.99 upstream rs4760682 PFKM AR 0.91853 1 0.8384 1 0 D 0.000 P -1.018 T Uncertain 12_48527186_C->T 12 48527186 48527186 C T snp 1476.77 0/1 99 162 95 67 0.41 exonic rs1049392 PFKM AR synonymous SNV NM_000289 exon6 c.C516T p.T172T 0.187899 0.1399 0.197217 0.1485 0.1467 Uncertain 12_48528419_T->C 12 48528419 48528419 T C snp 109.77 0/1 99 8 4 4 0.5 intronic rs2286020 PFKM AR NM_000289 exon8 c.11946-84T>C 0.189097 0.1409 Uncertain 12_48533767_A->T 12 48533767 48533767 A T snp 703.77 0/1 99 95 61 34 0.36 intronic rs183380210 PFKM AR NM_000289 exon13 c.17138+72A>T 0.000399361 0.002 Uncertain 12_48534814_-->G 12 48534814 48534814 - G indel 159.73 0/1 99 18 11 7 0.39 intronic rs34700912 PFKM AR NM_000289 exon14 c.18097+160insG 0.434105 0.3403 Uncertain 12_48537624_A->G 12 48537624 48537624 A G snp 1891.77 0/1 99 210 128 82 0.39 intronic rs4075913 PFKM AR NM_000289 exon19 c.21040+27A>G 0.645367 0.3542 0.810472 0.7352 0.4123 Uncertain 12_48545553_G->T 12 48545553 48545553 G T snp 854.77 0/1 99 56 25 31 0.55 intronic rs10783230 ASB8 AU NM_024095 exon2 c.1940+465G>T 0.434105 0.3413 Uncertain 12_48578325_A->C 12 48578325 48578325 A C snp 874.77 0/1 99 79 43 36 0.46 exonic rs10783231 CCDC184 AU nonsynonymous SNV NM_001013635 exon1 c.A420C p.E140D 0.594649 0.3581 0.745150 0.7201 0.4642 1 T 0.0 P -0.960 T 0.0 T 0.0 T Pathogenic 12_48578442_C->T 12 48578442 48578442 C T snp 1288.77 0/1 99 94 35 59 0.63 exonic rs73304926 CCDC184 AU synonymous SNV NM_001013635 exon1 c.C537T p.D179D 0.167532 0.1399 0.169794 0.2409 0.2379 Uncertain 12_48596875_-->A 12 48596875 48596875 - A indel 1503.73 0/1 99 94 51 43 0.46 exonic rs144247841 OR10AD1 AU frameshift insertion NM_001004134 exon1 c.200dupT p.L67fs 0.203075 0.128 0.233786 0.2097 0.1274 Pathogenic 12_48723784_C->T 12 48723784 48723784 C T snp 824.77 0/1 99 58 22 36 0.62 exonic rs2291483 H1FNT AU nonsynonymous SNV NM_181788 exon1 c.C710T p.S237F 0.20607 0.121 0.236030 0.2198 0.1260 0.04 T 0.0 P -0.995 T 0.99 D 0.925 D Pathogenic 12_48738556_A->- 12 48738556 48738556 A - indel 288.73 0/1 99 31 8 23 0.74 intronic rs34591795 ZNF641 AU NM_001172682 exon2 c.1740+61delA 0.652157 0.371 Uncertain 12_48741219_A->T 12 48741219 48741219 A T snp 335.77 0/1 99 26 13 13 0.5 intronic rs901962 ZNF641 AU NM_001172682 exon3 c.4371+93A>T 0.652157 0.3661 Uncertain 12_48877056_T->C 12 48877056 48877056 T C snp 957.77 0/1 99 73 33 40 0.55 UTR5 rs7972785 C12orf54 AU 0.232827 0.1488 0.347609 0.3801 0.1456 Uncertain 12_48879951_T->G 12 48879951 48879951 T G snp 598.77 0/1 99 52 25 27 0.52 intronic rs11168599 C12orf54 AU NM_152319 exon3 c.2881-9T>G 0.234425 0.1488 0.350069 0.3798 0.1456 Uncertain 12_48880381_A->G 12 48880381 48880381 A G snp 1721.77 0/1 99 178 98 80 0.45 intronic rs2731091 C12orf54 AU NM_152319 exon4 c.3391-89A>G 0.59365 0.8194 Uncertain 12_48880550_T->C 12 48880550 48880550 T C snp 1158.77 0/1 99 97 44 53 0.55 intronic rs2731092 C12orf54 AU NM_152319 exon4 c.3430+41T>C 0.305112 0.1647 0.352606 0.3127 0.1572 Uncertain 12_48883012_T->C 12 48883012 48883012 T C snp 1512.77 0/1 99 101 46 55 0.54 intronic rs2705127 C12orf54 AU NM_152319 exon5 c.5660+273T>C 0.305112 0.1647 0.3676 0.2174 Uncertain 12_48883020_G->T 12 48883020 48883020 G T snp 1422.77 0/1 99 90 40 50 0.56 intronic rs2731096 C12orf54 AU NM_152319 exon5 c.5660+281G>T 0.228235 0.1359 0.2723 0.1867 Uncertain 12_48884535_G->C 12 48884535 48884535 G C snp 2986.77 0/1 99 250 121 129 0.52 intronic rs2731102 C12orf54 AU NM_152319 exon6 c.7515-59G>C 0.597244 0.8194 0.457512 Uncertain 12_48884756_C->A 12 48884756 48884756 C A snp 243.77 0/1 99 25 16 9 0.36 intronic rs2731103 C12orf54 AU NM_152319 exon6 c.7540+137C>A 0.308307 0.1647 Uncertain 12_48888594_C->T 12 48888594 48888594 C T snp 2986.77 0/1 99 237 112 125 0.53 exonic rs11458 C12orf54 AU nonsynonymous SNV NM_152319 exon8 c.C256T p.P86S 0.227037 0.1478 0.339843 0.3718 0.1449 0.57 T 0.0 P -0.913 T 0.06 T 0.028 T Pathogenic 12_48888689_C->G 12 48888689 48888689 C G snp 2390.77 0/1 99 206 100 106 0.51 exonic rs9268 C12orf54 AU synonymous SNV NM_152319 exon8 c.C351G p.L117L 0.316893 0.1766 0.508765 0.5012 0.1647 Uncertain 12_48888763_A->G 12 48888763 48888763 A G snp 2256.77 1/1 99 74 0 74 1.0 splicing rs2705132 C12orf54 AU NM_152319 exon8 c.11683+1A>G 0.890375 1 0.879133 0.9677 1 Pathogenic 12_48919213_T->G 12 48919213 48919213 T G snp 56.74 1/1 6 2 0 2 1.0 upstream rs12371700 OR8S1 AU 0.226837 0.1488 Uncertain 12_48919556_A->G 12 48919556 48919556 A G snp 5600.77 1/1 99 199 0 199 1.0 exonic rs2731073 OR8S1 AU nonsynonymous SNV NM_001005203 exon1 c.A142G p.M48V 0.922324 0.9673 0.898431 0.9101 0.9668 0.25 T 0.0 P -0.984 T 0.0 T 0.0 T Pathogenic 12_48919659_T->C 12 48919659 48919659 T C snp 1549.77 0/1 99 151 88 63 0.42 exonic rs4075258 OR8S1 AU nonsynonymous SNV NM_001005203 exon1 c.T245C p.L82P 0.578275 0.6905 0.518914 0.5744 0.7257 0 D 1.000 P -1.097 T 1.0 D 0.992 D Pathogenic 12_48919660_G->A 12 48919660 48919660 G A snp 1537.77 0/1 99 149 87 62 0.42 exonic rs35367885 OR8S1 AU synonymous SNV NM_001005203 exon1 c.G246A p.L82L 0.226837 0.1488 0.340535 0.3710 0.1448 Uncertain 12_48919793_T->C 12 48919793 48919793 T C snp 1930.77 0/1 99 132 56 76 0.58 exonic rs2705143 OR8S1 AU nonsynonymous SNV NM_001005203 exon1 c.T379C p.C127R 0.254992 0.248 0.210903 0.2059 0.2221 0.02 T 1.000 P -1.041 T 0.064 T 0.078 T Pathogenic 12_48919796_C->T 12 48919796 48919796 C T snp 1222.77 0/1 99 135 79 56 0.41 exonic rs12425460 OR8S1 AU nonsynonymous SNV NM_001005203 exon1 c.C382T p.R128C 0.578874 0.6895 0.519068 0.5746 0.7244 0.01 T 0.397 P -1.059 T 0.003 T 0.003 T Pathogenic 12_48953504_G->A 12 48953504 48953504 G A snp 161.77 0/1 61 7 2 5 0.71 intergenic rs11168637 OR8S1 AU 0.248203 0.1577 Uncertain 12_48954040_A->G 12 48954040 48954040 A G snp 1463.77 0/1 99 123 71 52 0.42 intergenic rs1807757 OR8S1 AU 0.550519 0.6052 Uncertain 12_48954225_G->C 12 48954225 48954225 G C snp 2671.77 0/1 99 219 105 114 0.52 intergenic rs7312017 OR8S1 AU 0.302915 0.1885 Uncertain 12_48962869_A->G 12 48962869 48962869 A G snp 1325.77 0/1 99 116 66 50 0.43 exonic rs2232566 LALBA AU synonymous SNV NM_002289 exon2 c.T288C p.C96C 0.096246 0.0278 0.106874 0.0663 0.0273 Uncertain 12_49048738_G->T 12 49048738 49048738 G T snp 2883.77 1/1 99 105 0 105 1.0 exonic rs3741628 KANSL2 AU nonsynonymous SNV NM_017822 exon9 c.C1333A p.P445T 0.555711 0.7758 0.483649 0.6034 0.7440 0.27 T 1.0 P -0.991 T 0.617 T 0.173 P Pathogenic 12_49048985_G->A 12 49048985 49048985 G A snp 325.78 1/1 27 10 0 10 1.0 intronic rs6580690 KANSL2 AU NM_017822 exon2 c.1017+142G>A 0.61901 0.7758 Uncertain 12_49054491_G->C 12 49054491 49054491 G C snp 370.77 1/1 30 12 0 12 1.0 intronic rs3741629 KANSL2 AU NM_017822 exon3 c.6576+89G>C 0.617412 0.7688 Uncertain 12_49073043_C->A 12 49073043 49073043 C A snp 38.77 0/1 67 27 21 6 0.22 intronic KANSL2 AU NM_017822 exon7 c.25107+110C>A 0.0367 0.0516 Uncertain 12_49073358_A->T 12 49073358 49073358 A T snp 870.77 1/1 63 33 0 33 1.0 intronic rs3741630 KANSL2 AU NM_017822 exon8 c.25611-79A>T 0.616813 0.7758 Uncertain 12_49075811_T->G 12 49075811 49075811 T G snp 3730.77 1/1 99 133 0 133 1.0 intronic rs2277365 KANSL2 AU NM_017822 exon10 c.28143-158T>G 0.434704 0.7728 0.3989 0.8168 Uncertain 12_49076036_T->C 12 49076036 49076036 T C snp 227.84 1/1 18 7 0 7 1.0 upstream rs10783277 KANSL2 AU 0.826877 0.9881 Uncertain 12_49086963_G->A 12 49086963 49086963 G A snp 3191.82 1/1 99 115 0 115 1.0 exonic rs3741632 CCNT1 AU synonymous SNV NM_001240 exon9 c.C2034T p.P678P 0.59405 0.7768 0.545133 0.6152 0.7581 Uncertain 12_49091972_-->A 12 49091972 49091972 - A indel 85.7 0/1 6 12 2 10 0.83 splicing rs11420004 CCNT1 AU NM_001277842 exon3 c.2367+6insA 0.675919 0.6429 0.5936 0.5848 Pathogenic 12_49093729_C->T 12 49093729 49093729 C T snp 86.28 1/1 9 3 0 3 1.0 intronic rs7308699 CCNT1 AU NM_001277842 exon4 c.4024+106C>T 0.615815 0.7758 Uncertain 12_49108488_C->T 12 49108488 49108488 C T snp 676.77 1/1 51 17 0 17 1.0 intronic rs7138930 CCNT1 AU NM_001277842 exon7 c.18708+181C>T 0.826278 0.9881 Uncertain 12_49110248_G->A 12 49110248 49110248 G A snp 1392.77 1/1 99 45 0 45 1.0 intronic rs1110432 CCNT1 AU NM_001277842 exon8 c.20698-49G>A 0.557308 0.7847 0.482698 0.5886 0.7660 Uncertain 12_49110582_C->G 12 49110582 49110582 C G snp 345.78 1/1 27 9 0 9 1.0 UTR5 rs2291728 CCNT1 AU 0.433506 0.7748 Uncertain 12_49177113_T->G 12 49177113 49177113 T G snp 2453.77 0/1 99 180 80 100 0.56 exonic rs2453486 ADCY6 AR synonymous SNV NM_015270 exon1 c.A105C p.A35A 0.292133 0.3492 0.269645 0.3171 0.3662 Uncertain 12_49218171_A->G 12 49218171 49218171 A G snp 718.77 0/1 99 86 51 35 0.41 intronic rs2070615 CACNB3 AU NM_000725 exon4 c.5444+15A>G 0.61222 0.4028 0.656159 0.6208 0.4751 Uncertain 12_49218810_-->T 12 49218810 49218810 - T indel 1396.73 0/1 99 73 24 49 0.67 intronic rs11379348 CACNB3 AU NM_000725 exon6 c.6039+59insT 0.417133 0.3988 0.422764 Uncertain 12_49219569_A->G 12 49219569 49219569 A G snp 1026.77 0/1 99 83 43 40 0.48 intronic rs2453469 CACNB3 AU NM_000725 exon9 c.6840+17A>G 0.416733 0.3978 0.423574 0.4223 0.4310 Uncertain 12_49220032_C->G 12 49220032 49220032 C G snp 42.77 0/1 33 3 1 2 0.67 intronic rs10875878 CACNB3 AU NM_000725 exon10 c.7437-117C>G 0.401757 0.6101 Uncertain 12_49221622_G->A 12 49221622 49221622 G A snp 2601.77 0/1 99 248 138 110 0.44 exonic rs1045340 CACNB3 AU synonymous SNV NM_001206915 exon12 c.G1272A p.E424E 0.432109 0.6151 0.417115 0.4296 0.5963 Uncertain 12_49230035_T->G 12 49230035 49230035 T G snp 470.77 0/1 99 82 59 23 0.28 exonic rs1057908 DDX23 AU synonymous SNV NM_004818 exon11 c.A1251C p.I417I 0.472444 0.62 0.464632 0.4564 0.6003 Uncertain 12_49255798_G->C 12 49255798 49255798 G C snp 1282.77 0/1 99 131 75 56 0.43 exonic rs1565933 RND1 AU synonymous SNV NM_014470 exon3 c.C312G p.L104L 0.410743 0.3869 0.423497 0.4590 0.4049 Uncertain 12_49259194_T->G 12 49259194 49259194 T G snp 154.9 1/1 15 5 0 5 1.0 intronic rs2453489 RND1 AU NM_014470 exon5 c.7652-236T>G 0.983027 1 Uncertain 12_49298059_G->A 12 49298059 49298059 G A snp 37.77 0/1 66 8 5 3 0.38 UTR5 rs3809147 CCDC65 AR 0.308307 0.4454 Uncertain 12_49298340_C->T 12 49298340 49298340 C T snp 179.77 0/1 99 22 14 8 0.36 intronic rs3825184 CCDC65 AR NM_033124 exon1 c.132+89C>T 0.545128 0.5546 Uncertain 12_49308284_A->G 12 49308284 49308284 A G snp 1461.77 0/1 99 156 90 66 0.42 exonic rs10747556 CCDC65 AR nonsynonymous SNV NM_033124 exon3 c.A398G p.H133R 0.309904 0.4444 0.307473 0.3699 0.4749 0.53 T 0.0 P -0.903 T 0.0 T 0.0 T Pathogenic 12_49308475_G->A 12 49308475 49308475 G A snp 46.77 0/1 75 11 8 3 0.27 intronic rs10783293 CCDC65 AR NM_001286957 exon3 c.41+119G>A 0.35643 0.4454 Uncertain 12_49310724_G->A 12 49310724 49310724 G A snp 660.77 0/1 99 59 33 26 0.44 intronic rs10875891 CCDC65 AR NM_001286957 exon4 c.2437-28G>A 0.307907 0.4444 0.3686 0.4664 Uncertain 12_49310725_A->G 12 49310725 49310725 A G snp 674.77 0/1 99 59 32 27 0.46 intronic rs10875892 CCDC65 AR NM_001286957 exon4 c.2437-27A>G 0.308307 0.4454 0.3687 0.4668 Uncertain 12_49312432_C->T 12 49312432 49312432 C T snp 32.77 0/1 61 6 3 3 0.5 intronic rs10783294 CCDC65 AR NM_001286957 exon6 c.4152-35C>T 0.308307 0.4454 0.305628 0.3732 0.4759 Uncertain 12_49312593_A->G 12 49312593 49312593 A G snp 942.77 0/1 99 86 45 41 0.48 exonic rs10875893 CCDC65 AR synonymous SNV NM_033124 exon6 c.A933G p.R311R 0.307708 0.4415 0.306320 0.3693 0.4696 Uncertain 12_49314862_C->A 12 49314862 49314862 C A snp 500.77 0/1 99 57 33 24 0.42 exonic rs10875894 CCDC65 AR synonymous SNV NM_033124 exon7 c.C1176A p.T392T 0.308307 0.4454 0.305321 0.3697 0.4706 Uncertain 12_49314994_A->G 12 49314994 49314994 A G snp 753.77 0/1 99 81 49 32 0.4 exonic rs4760600 CCDC65 AR nonsynonymous SNV NM_033124 exon8 c.A1223G p.Y408C 0.308107 0.4444 0.306166 0.3692 0.4716 0.06 T 1.000 P -0.932 T 1.0 D 0.996 D Pathogenic 12_49318546_G->A 12 49318546 49318546 G A snp 58.77 0/1 87 14 10 4 0.29 intronic rs2293449 FKBP11 AU NM_001143781 exon5 c.2790-10G>A 0.446286 0.4454 Uncertain 12_49319036_A->C 12 49319036 49319036 A C snp 7307.77 1/1 99 249 1 248 1.0 intronic rs12829682 FKBP11 AU NM_016594 exon6 c.3316-46A>C 0.891773 1 0.870271 0.9495 0.9999 Uncertain 12_49319270_C->T 12 49319270 49319270 C T snp 219.77 0/1 99 16 9 7 0.44 UTR5 rs2272312 FKBP11 AU 0.309704 0.4435 Uncertain 12_49325142_G->A 12 49325142 49325142 G A snp 103.77 0/1 99 15 10 5 0.33 intergenic rs11168794 FKBP11 AU 0.309704 0.4444 Uncertain 12_49332092_G->A 12 49332092 49332092 G A snp 90.77 0/1 72 9 3 6 0.67 UTR3 rs1054376 ARF3 AU 0.310104 0.4454 0.3696 0.4141 0 D 0.0 P -0.972 T Uncertain 12_49332366_C->T 12 49332366 49332366 C T snp 936.77 0/1 99 56 12 44 0.79 UTR3 rs4760666 ARF3 AU 0.307907 0.4425 0.3139 0.4455 0 D 0.069 P -0.928 T Uncertain 12_49332451_-->GA 12 49332451 49332451 - GA indel 1017.73 0/1 99 54 20 34 0.63 UTR3 rs148694584 ARF3 AU 0.375599 0.5248 0.4121 0.5231 Uncertain 12_49333896_-->A 12 49333896 49333896 - A indel 1206.73 0/1 99 155 91 64 0.41 splicing rs398116432 ARF3 AU NM_001659 exon3 c.1161+6insA 0.309305 0.4454 0.306150 0.3678 0.4675 Pathogenic 12_49334044_G->C 12 49334044 49334044 G C snp 857.77 1/1 63 26 0 26 1.0 intronic rs708242 ARF3 AU NM_001659 exon3 c.1161+154G>C 0.901358 1 Uncertain 12_49334762_G->C 12 49334762 49334762 G C snp 2433.77 1/1 99 88 0 88 1.0 exonic rs12122 ARF3 AU synonymous SNV NM_001659 exon2 c.C117G p.L39L 0.923123 1 0.907735 0.9590 0.9999 Uncertain 12_49334982_G->C 12 49334982 49334982 G C snp 713.77 0/1 99 47 21 26 0.55 intronic rs10747557 ARF3 AU NM_001659 exon4 c.2242+11G>C 0.310304 0.4464 Uncertain 12_49359989_G->A 12 49359989 49359989 G A snp 3054.77 0/1 99 229 105 124 0.54 exonic rs1051886 WNT10B AR,AU synonymous SNV NM_003394 exon5 c.C1059T p.H353H 0.311102 0.4494 0.306089 0.3705 0.4707 Uncertain 12_49362779_T->G 12 49362779 49362779 T G snp 1002.77 1/1 72 36 0 36 1.0 intronic rs833834 WNT10B AR,AU NM_003394 exon2 c.2225+677T>G 0.89996 1 Uncertain 12_49364391_G->A 12 49364391 49364391 G A snp 455.77 0/1 99 23 8 15 0.65 intronic rs833843 WNT10B AR,AU NM_003394 exon4 c.4475+39G>A 0.387181 0.5655 Uncertain 12_49421179_G->C 12 49421179 49421179 G C snp 210.84 1/1 18 6 0 6 1.0 intronic rs833817 KMT2D AD NM_003482 exon7 c.5543+74G>C 0.976438 1 Uncertain 12_49439659_C->T 12 49439659 49439659 C T snp 1283.77 1/1 93 42 0 42 1.0 intronic rs833818 KMT2D AD NM_003482 exon37 c.24140-43C>T 0.975439 1 0.978532 0.9932 1 Uncertain 12_49494862_-->A 12 49494862 49494862 - A indel 235.73 0/1 99 14 6 8 0.57 intronic rs35472356 LMBR1L AU NM_001300750 exon5 c.3578-170insA 0.535543 0.6776 Uncertain 12_49497643_T->A 12 49497643 49497643 T A snp 1298.77 0/1 99 103 50 53 0.51 intronic rs2047101 LMBR1L AU NM_001300750 exon12 c.6142+47T>A 0.421526 0.6756 0.292480 0.3764 0.7236 Uncertain 12_49498130_G->T 12 49498130 49498130 G T snp 1075.77 0/1 99 101 55 46 0.46 intronic rs10783302 LMBR1L AU NM_001300750 exon13 c.6776-100G>T 0.535144 0.6776 Uncertain 12_49498368_-->A 12 49498368 49498368 - A indel 1253.73 0/1 99 81 43 38 0.47 intronic rs761236922 LMBR1L AU NM_001300750 exon13 c.6880+34insA 0.0002 0.0028 Uncertain 12_49498751_G->A 12 49498751 49498751 G A snp 196.77 0/1 99 13 5 8 0.62 intronic rs2279596 LMBR1L AU NM_001300750 exon14 c.7214+83G>A 0.497604 0.6776 Uncertain 12_49500398_G->A 12 49500398 49500398 G A snp 966.77 0/1 99 77 35 42 0.55 exonic rs10783304 LMBR1L AU synonymous SNV NM_001300750 exon3 c.C72T p.G24G 0.419329 0.6746 0.291502 0.3862 0.7134 Uncertain 12_49500509_C->T 12 49500509 49500509 C T snp 2135.77 0/1 99 197 105 92 0.47 UTR5 rs10747561 LMBR1L AU 0.500799 0.6766 0.372974 0.4307 0.7131 Uncertain 12_49521672_G->A 12 49521672 49521672 G A snp 1000.77 0/1 99 86 43 43 0.5 UTR3 rs2753 TUBA1B AU 0.555112 0.6835 Uncertain 12_49522578_T->C 12 49522578 49522578 T C snp 166.77 0/1 99 19 11 8 0.42 exonic rs1057725 TUBA1B AU synonymous SNV NM_006082 exon4 c.A519G p.P173P 0.544928 0.6835 0.3696 0.6816 Uncertain 12_49522605_C->T 12 49522605 49522605 C T snp 319.77 0/1 99 33 17 16 0.48 exonic rs1057548 TUBA1B AU synonymous SNV NM_006082 exon4 c.G492A p.K164K 0.453275 0.6806 0.3434 0.6269 Uncertain 12_49522786_C->A 12 49522786 49522786 C A snp 453.77 0/1 99 34 16 18 0.53 intronic rs1865157 TUBA1B AU NM_006082 exon1 c.981+65C>A 0.539736 0.6835 Uncertain 12_49523524_AT->- 12 49523524 49523525 AT - indel 1715.73 0/1 99 90 49 41 0.46 intronic rs34070757 TUBA1B AU NM_006082 exon3 c.1765+19_1765+20delAT 0.368411 0.6756 0.243371 0.3551 0.7207 Uncertain 12_49525008_G->C 12 49525008 49525008 G C snp 734.77 0/1 99 59 25 34 0.58 intronic rs2241727 TUBA1B AU NM_006082 exon4 c.3340-72G>C 0.457668 0.6815 0.323684 Uncertain 12_49579696_C->G 12 49579696 49579696 C G snp 739.77 0/1 99 60 29 31 0.52 exonic rs697624 TUBA1A AD synonymous SNV NM_006009 exon4 c.G453C p.S151S 0.547724 0.6885 0.435077 0.4203 0.7256 0.1 T 0.111 P -0.950 T CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000147809.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Likely benign 12_49580180_T->C 12 49580180 49580180 T C snp 350.77 0/1 99 33 18 15 0.45 exonic rs1056875 TUBA1A AD synonymous SNV NM_006009 exon3 c.A288G p.K96K 0.55631 0.6925 0.442027 0.4258 0.7361 0 D 0.081 P -0.921 T CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000147806.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Likely benign 12_49582692_T->G 12 49582692 49582692 T G snp 2005.77 0/1 99 149 69 80 0.54 intronic rs1039225 TUBA1A AD NM_001270400 exon4 c.3879+21T>G 0.410743 0.6835 0.284056 Uncertain 12_49667103_A->T 12 49667103 49667103 A T snp 1209.77 1/1 87 40 0 40 1.0 UTR3 rs9668136 TUBA1C AU 0.998403 1 0.9996 1 0.59 T 0.000 P -0.953 T Uncertain 12_49692340_C->T 12 49692340 49692340 C T snp 210.77 0/1 99 14 7 7 0.5 ncRNA_intronic LOC101927267 AU Uncertain 12_49883204_G->T 12 49883204 49883204 G T snp 906.77 0/1 99 62 28 34 0.55 intronic rs4993294 SPATS2 AU NM_023071 exon5 c.28452-43G>T 0.0585064 0.0546 0.046447 0.0349 0.0658 Uncertain 12_49884336_C->T 12 49884336 49884336 C T snp 677.77 0/1 99 52 24 28 0.54 intronic rs61375453 SPATS2 AU NM_023071 exon6 c.29669-128C>T 0.0561102 0.0546 Uncertain 12_49934565_G->A 12 49934565 49934565 G A snp 463.77 0/1 99 32 17 15 0.47 intronic rs7132792 KCNH3 AU NM_012284 exon2 c.1482-116G>A 0.283147 0.0764 Uncertain 12_49935027_G->C 12 49935027 49935027 G C snp 99.77 0/1 99 10 6 4 0.4 intronic rs12311527 KCNH3 AU NM_012284 exon2 c.1716+112G>C 0.277356 0.0764 Uncertain 12_49943122_A->G 12 49943122 49943122 A G snp 227.77 0/1 99 13 6 7 0.54 intronic rs933738 KCNH3 AU NM_012284 exon9 c.10024-101A>G 0.258187 0.0883 Uncertain 12_49943838_C->G 12 49943838 49943838 C G snp 120.77 0/1 58 7 3 4 0.57 intronic rs139703512 KCNH3 AU NM_012284 exon10 c.10663-24C>G 0.000199681 0.001352 0.0020 0 Uncertain 12_49943840_C->T 12 49943840 49943840 C T snp 108.77 0/1 99 7 3 4 0.57 intronic rs2278070 KCNH3 AU NM_012284 exon10 c.10663-22C>T 0.110224 0.0823 0.111520 0.1119 0.0943 Uncertain 12_49948105_A->G 12 49948105 49948105 A G snp 676.77 0/1 99 41 20 21 0.51 intronic rs3815832 KCNH3 AU NM_012284 exon11 c.14920-14A>G 0.206669 0.0833 0.217592 0.1388 0.0854 Uncertain 12_49948500_T->C 12 49948500 49948500 T C snp 40.77 0/1 69 5 3 2 0.4 intronic rs7953911 KCNH3 AU NM_012284 exon11 c.15138+163T>C 0.176717 0.0833 Uncertain 12_49950050_G->A 12 49950050 49950050 G A snp 633.77 0/1 99 46 19 27 0.59 intronic rs111466998 KCNH3 AU NM_012284 exon13 c.16953-102G>A 0.0351438 0.0585 Uncertain 12_49951232_T->C 12 49951232 49951232 T C snp 1462.77 0/1 99 109 52 57 0.52 exonic rs2241418 KCNH3 AU synonymous SNV NM_012284 exon15 c.T2748C p.G916G 0.206869 0.0833 0.216428 0.1409 0.0870 Uncertain 12_49952394_C->T 12 49952394 49952394 C T snp 277.77 0/1 99 26 15 11 0.42 UTR3 rs13906 MCRS1 AU 0.205272 0.0833 0.215462 0.1364 0.0819 Uncertain 12_49952668_G->A 12 49952668 49952668 G A snp 2341.77 0/1 99 178 83 95 0.53 exonic rs2303305 MCRS1 AU synonymous SNV NM_001278341 exon12 c.C687T p.L229L 0.108626 0.0823 0.112871 0.0938 0.0840 Uncertain 12_49956972_CT->- 12 49956972 49956973 CT - indel 1625.73 0/1 99 107 64 43 0.4 intronic rs111783307 MCRS1 AU NM_001278341 exon8 c.4497+50_4497+51delCT 0.205471 0.0833 0.218724 0.1526 0.0875 Uncertain 12_49957103_A->G 12 49957103 49957103 A G snp 176.77 0/1 99 17 10 7 0.41 intronic rs57965817 MCRS1 AU NM_001278341 exon9 c.4795-117A>G 0.259784 0.0903 Uncertain 12_49959590_-->CA 12 49959590 49959590 - CA indel 393.73 0/1 99 18 8 10 0.56 intronic rs56745197 MCRS1 AU NM_001278341 exon12 c.7025+140insCA 0.20607 0.0833 Uncertain 12_49960551_C->A 12 49960551 49960551 C A snp 1584.77 0/1 99 157 80 77 0.49 UTR5 rs13066 MCRS1 AU 0.226438 0.0853 0.239505 0.1446 0.0877 Uncertain 12_49993678_C->T 12 49993678 49993678 C T snp 2033.77 0/1 99 188 100 88 0.47 exonic rs52824916 FAM186B AU nonsynonymous SNV NM_032130 exon4 c.G1745A p.R582Q 0.113219 0.0823 0.114255 0.0958 0.0840 0.0 P -0.998 T 0.319 T 0.06 T Pathogenic 12_50026423_C->T 12 50026423 50026423 C T snp 982.77 0/1 99 87 44 43 0.49 intronic rs79252534 PRPF40B AU NM_012272 exon4 c.1223+17C>T 0.0275559 0.0615 0.011458 0.0255 0.0670 Uncertain 12_50026566_C->T 12 50026566 50026566 C T snp 645.77 0/1 99 44 19 25 0.57 intronic rs80045104 PRPF40B AU NM_012272 exon5 c.1454-71C>T 0.00778754 0.0298 0.004599 Uncertain 12_50037745_G->A 12 50037745 50037745 G A snp 1329.77 0/1 99 126 71 55 0.44 exonic rs35275181 PRPF40B AU synonymous SNV NM_012272 exon24 c.G2442A p.E814E 0.0251597 0.0585 0.009303 0.0246 0.0651 Uncertain 12_50038292_G->A 12 50038292 50038292 G A snp 821.77 0/1 99 67 35 32 0.48 UTR3 rs4073998 FMNL3 AU 0.245807 0.0893 Uncertain 12_50040811_-->G 12 50040811 50040811 - G indel 2986.73 0/1 99 215 105 110 0.51 intronic rs3841320 FMNL3 AU NM_198900 exon2 c.1195+19insG 0.326278 0.0942 0.352250 0.2350 0.1003 Uncertain 12_50043884_C->T 12 50043884 50043884 C T snp 93.77 0/1 99 11 7 4 0.36 intronic rs61512987 FMNL3 AU NM_198900 exon9 c.4111+176C>T 0.254393 0.0893 Uncertain 12_50136188_G->A 12 50136188 50136188 G A snp 354.77 0/1 99 39 25 14 0.36 intronic rs74590387 TMBIM6 AU NM_001098576 exon1 c.144+125G>A 0.0349441 0.0575 Uncertain 12_50146473_A->G 12 50146473 50146473 A G snp 638.77 1/1 48 16 0 16 1.0 intronic rs2603098 TMBIM6 AU NM_003217 exon2 c.56+141A>G 0.993211 0.998 Uncertain 12_50151977_G->A 12 50151977 50151977 G A snp 1357.77 0/1 99 119 61 58 0.49 intronic rs2720305 TMBIM6 AU NM_003217 exon5 c.5733-32G>A 0.394569 0.7351 0.226511 0.3709 0.7375 Uncertain 12_50152193_G->A 12 50152193 50152193 G A snp 2730.77 0/1 99 244 127 117 0.48 exonic rs4563 TMBIM6 AU synonymous SNV NM_001098576 exon6 c.G537A p.T179T 0.218251 0.0823 0.224896 0.1345 0.0838 Uncertain 12_50155400_A->G 12 50155400 50155400 A G snp 558.77 0/1 99 32 12 20 0.63 intronic rs6580721 TMBIM6 AU NM_003217 exon9 c.9210-86A>G 0.33107 0.0853 Uncertain 12_50156889_CTCA->- 12 50156889 50156892 CTCA - indel 883.73 0/1 99 33 15 18 0.55 UTR3 rs112133089 TMBIM6 AU 0.0409345 0.0575 Uncertain 12_50174308_A->- 12 50174308 50174308 A - indel 294.73 0/1 99 89 52 37 0.42 intergenic rs111500583 TMBIM6 AU Uncertain 12_50186069_G->T 12 50186069 50186069 G T snp 1324.77 0/1 99 94 47 47 0.5 intronic rs1470907 NCKAP5L AU NM_001037806 exon2 c.607-159G>T 0.272564 0.5367 Uncertain 12_50189602_A->G 12 50189602 50189602 A G snp 1203.77 0/1 99 112 61 51 0.46 exonic rs3813526 NCKAP5L AU nonsynonymous SNV NM_001037806 exon8 c.T2041C p.S681P 0.276757 0.5466 0.089506 0.1816 0.5746 0.49 T 0.0 P -0.935 T 0.0 T 0.0 T Pathogenic 12_50189807_C->A 12 50189807 50189807 C A snp 856.77 0/1 99 98 57 41 0.42 exonic rs2720298 NCKAP5L AU synonymous SNV NM_001037806 exon8 c.G1836T p.S612S 0.604233 0.6577 0.474705 0.4956 0.6317 0.000 P -0.969 T Likely benign 12_50189834_T->G 12 50189834 50189834 T G snp 813.77 0/1 99 86 50 36 0.42 exonic rs2603104 NCKAP5L AU synonymous SNV NM_001037806 exon8 c.A1809C p.V603V 0.675519 0.8065 0.510859 0.5354 0.7716 0.038 P -1.007 T Likely benign 12_50190653_C->T 12 50190653 50190653 C T snp 1746.77 0/1 99 177 98 79 0.45 exonic rs3741555 NCKAP5L AU synonymous SNV NM_001037806 exon8 c.G990A p.Q330Q 0.275958 0.5466 0.099068 0.1727 0.5389 1.000 P -0.907 T Likely benign 12_50190667_A->T 12 50190667 50190667 A T snp 1584.77 0/1 99 171 100 71 0.42 exonic rs3741554 NCKAP5L AU nonsynonymous SNV NM_001037806 exon8 c.T976A p.L326M 0.203075 0.5377 0.032063 0.1519 0.5386 0.22 T 0.0 P -0.959 T 0.122 T 0.117 T Pathogenic 12_50192009_T->C 12 50192009 50192009 T C snp 1148.77 0/1 99 77 34 43 0.56 intronic rs1075366 NCKAP5L AU NM_001037806 exon7 c.6511-123T>C 0.674321 0.8056 Uncertain 12_50232169_A->T 12 50232169 50232169 A T snp 1181.77 0/1 99 141 91 50 0.35 exonic rs11169172 BCDIN3D AU nonsynonymous SNV NM_181708 exon2 c.T864A p.S288R 0.284145 0.5337 0.114563 0.1735 0.5357 1 T 1.000 P -0.923 T 0.0 T 0.0 T Pathogenic 12_50271372_G->T 12 50271372 50271372 G T snp 193.77 0/1 99 16 8 8 0.5 intronic rs1248263 FAIM2 AU NM_012306 exon1 c.150+6936G>T 0.78734 0.7758 Uncertain 12_50271497_C->T 12 50271497 50271497 C T snp 790.77 0/1 99 65 29 36 0.55 intronic rs73116304 FAIM2 AU NM_012306 exon1 c.150+7061C>T 0.333267 0.3899 Uncertain 12_50284155_C->T 12 50284155 50284155 C T snp 189.77 0/1 99 12 5 7 0.58 intronic FAIM2 AU NM_012306 exon5 c.19651+218C>T Uncertain 12_50290728_A->G 12 50290728 50290728 A G snp 464.77 1/1 36 14 0 14 1.0 intronic rs297935 FAIM2 AU NM_012306 exon8 c.26527-85A>G 0.715855 0.8611 Uncertain 12_50291735_G->C 12 50291735 50291735 G C snp 999.77 1/1 72 34 0 34 1.0 intronic rs297937 FAIM2 AU NM_012306 exon10 c.27483-34G>C 0.647564 0.7589 0.595417 0.5760 0.7852 Uncertain 12_50297340_C->G 12 50297340 50297340 C G snp 68.77 0/1 97 12 9 3 0.25 intronic rs12427051 FAIM2 AU NM_012306 exon12 c.33274-220C>G 0.127396 0.3889 Uncertain 12_50297375_A->G 12 50297375 50297375 A G snp 172.77 0/1 99 28 19 9 0.32 intronic rs12424404 FAIM2 AU NM_012306 exon12 c.33274-185A>G 0.0890575 0.3919 Uncertain 12_50304574_G->A 12 50304574 50304574 G A snp 2149.77 0/1 99 190 96 94 0.49 ncRNA_exonic rs2298640 LOC283332 AU 0.0878594 0.3849 Uncertain 12_50304926_G->A 12 50304926 50304926 G A snp 729.77 0/1 99 74 43 31 0.42 ncRNA_intronic rs2298641 LOC283332 AU 0.0958466 0.3929 Uncertain 12_50305007_C->T 12 50305007 50305007 C T snp 133.77 0/1 99 20 14 6 0.3 ncRNA_exonic rs394119 LOC283332 AU 0.768371 0.7173 Uncertain 12_50344976_G->A 12 50344976 50344976 G A snp 1117.77 0/1 99 97 49 48 0.49 splicing rs3741559 AQP2 AR,AD NM_000486 exon1 c.360+3G>A 0.210863 0.3234 0.152421 0.2218 0.3864 ID=CS106948;DIS=Diabetes insipidus, nephrogenic;TAG=DM?;PUB=20814834 DM? Pathogenic 12_50348078_T->C 12 50348078 50348078 T C snp 1973.77 0/1 99 166 81 85 0.51 exonic rs426496 AQP2 AR,AD synonymous SNV NM_000486 exon2 c.T501C p.S167S 0.667133 0.6796 0.693295 0.7593 0.6330 Uncertain 12_50348674_C->T 12 50348674 50348674 C T snp 152.77 0/1 99 13 7 6 0.46 ncRNA_intronic rs402813 LOC101927318 AU 0.640974 0.6587 Uncertain 12_50349090_A->G 12 50349090 50349090 A G snp 471.77 1/1 36 13 0 13 1.0 ncRNA_intronic rs410837 LOC101927318 AU 0.881789 0.999 Uncertain 12_50349123_C->A 12 50349123 50349123 C A snp 527.77 0/1 99 31 10 21 0.68 ncRNA_intronic rs371777 LOC101927318 AU 0.592652 0.6587 Uncertain 12_50349143_C->G 12 50349143 50349143 C G snp 634.77 0/1 99 39 13 26 0.67 ncRNA_intronic rs403201 LOC101927318 AU 0.666534 0.6766 0.738683 0.7736 0.6508 Uncertain 12_50349411_C->A 12 50349411 50349411 C A snp 230.77 0/1 99 13 5 8 0.62 ncRNA_intronic rs457487 LOC101927318 AU 0.4375 0.4167 0.604595 0.5442 0.4536 Uncertain 12_50349765_C->T 12 50349765 50349765 C T snp 98.77 0/1 99 13 9 4 0.31 ncRNA_intronic rs467323 LOC101927318 AU 0.352636 0.2599 Uncertain 12_50356175_G->- 12 50356175 50356175 G - indel 279.73 1/1 37 15 0 15 1.0 ncRNA_intronic rs747463064 LOC101927318 AU 0.1905 0.3529 Uncertain 12_50358054_A->G 12 50358054 50358054 A G snp 1387.77 0/1 99 123 67 56 0.46 intronic rs3736309 AQP5 AD NM_001651 exon3 c.2158+96A>G 0.153355 0.3254 Uncertain 12_50358073_C->G 12 50358073 50358073 C G snp 2572.77 1/1 99 80 0 80 1.0 intronic rs296753 AQP5 AD NM_001651 exon3 c.2158+115C>G 0.989018 1 Uncertain 12_50368013_C->T 12 50368013 50368013 C T snp 1048.77 1/1 81 30 0 30 1.0 intronic rs296748 AQP6 AU NM_001652 exon2 c.1150-93C>T 0.828674 0.9812 Uncertain 12_50386015_C->T 12 50386015 50386015 C T snp 4197.77 1/1 99 159 0 159 1.0 intronic rs296737 RACGAP1 AU NM_001126103 exon4 c.1977-12C>T 0.692692 0.9246 0.704829 0.8461 0.9272 Uncertain 12_50391035_T->C 12 50391035 50391035 T C snp 987.77 0/1 99 71 34 37 0.52 intronic rs60924903 RACGAP1 AU NM_001126103 exon8 c.6937+48T>C 0.00678914 0.0327 0.000231 0.0031 0.0379 Uncertain 12_50393372_G->T 12 50393372 50393372 G T snp 470.77 1/1 36 15 0 15 1.0 intronic rs378943 RACGAP1 AU NM_001126103 exon10 c.9348-26G>T 0.691294 0.9246 0.704905 0.8454 0.9273 Uncertain 12_50452708_C->G 12 50452708 50452708 C G snp 5302.77 1/1 99 191 0 191 1.0 exonic rs653576 ASIC1 AU synonymous SNV NM_001095 exon2 c.C159G p.S53S 0.927516 0.8542 0.962786 0.9551 0.8648 Uncertain 12_50471630_A->G 12 50471630 50471630 A G snp 602.77 1/1 45 15 0 15 1.0 intronic rs2272391 ASIC1 AU NM_020039 exon5 c.19233-152A>G 0.640575 0.7619 Uncertain 12_50473660_A->G 12 50473660 50473660 A G snp 1091.77 1/1 81 32 0 32 1.0 intronic rs404751 ASIC1 AU NM_020039 exon8 c.21135-24A>G 0.926118 0.8512 0.960249 0.9556 0.8644 Uncertain 12_50473827_G->A 12 50473827 50473827 G A snp 1065.77 0/1 99 72 29 43 0.6 exonic rs201684162 ASIC1 AU synonymous SNV NM_001256830 exon6 c.G1296A p.E432E 0.000798722 0.003 0.0004 0.0040 1 D -0.833 T Likely benign 12_50498139_T->G 12 50498139 50498139 T G snp 613.77 1/1 45 22 0 22 1.0 intronic rs836178 GPD1 AR NM_005276 exon2 c.523-217T>G 0.725639 0.8452 Uncertain 12_50513687_C->T 12 50513687 50513687 C T snp 221.77 0/1 99 12 4 8 0.67 intronic rs7961065 COX14 AR,AO 0.364018 0.1806 Uncertain 12_50526814_G->A 12 50526814 50526814 G A snp 575.77 0/1 99 43 19 24 0.56 intronic rs2242507 CERS5 AU NM_147190 exon2 c.4001-1514G>A 0.381789 0.7232 0.3468 0.6866 Uncertain 12_50529314_C->T 12 50529314 50529314 C T snp 1760.77 0/1 99 149 78 71 0.48 intronic rs11169281 CERS5 AU NM_147190 exon3 c.5187-200C>T 0.31849 0.1885 0.4026 0.2706 Uncertain 12_50529736_G->A 12 50529736 50529736 G A snp 2648.77 0/1 99 214 102 112 0.52 exonic rs3741562 CERS5 AU synonymous SNV NM_147190 exon7 c.C753T p.D251D 0.314896 0.1806 0.347532 0.3286 0.1618 1.0 P -0.948 T Likely benign 12_50529936_A->G 12 50529936 50529936 A G snp 853.77 1/1 63 24 0 24 1.0 intronic rs7136570 CERS5 AU NM_147190 exon4 c.5525+84A>G 0.800719 0.9048 Uncertain 12_50529971_A->G 12 50529971 50529971 A G snp 68.77 0/1 97 10 7 3 0.3 intronic rs11169282 CERS5 AU NM_147190 exon4 c.5525+119A>G 0.315495 0.1825 Uncertain 12_50535955_C->T 12 50535955 50535955 C T snp 1253.77 0/1 99 118 63 55 0.47 intronic rs10747571 CERS5 AU NM_147190 exon7 c.11566+62C>T 0.377196 0.7242 0.249014 Uncertain 12_50537060_C->G 12 50537060 50537060 C G snp 1183.77 0/1 99 118 66 52 0.44 intronic rs2277355 CERS5 AU NM_147190 exon8 c.12660+73C>G 0.410743 0.7232 0.3544 0.7554 Uncertain 12_50537815_A->G 12 50537815 50537815 A G snp 2779.77 1/1 99 109 1 108 0.99 exonic rs7302981 CERS5 AU nonsynonymous SNV NM_147190 exon2 c.T223C p.C75R 0.806909 0.9077 0.706828 0.6987 0.9172 0.35 T 0.017 P -0.989 T 0.0 T 0.0 T Pathogenic 12_50538625_A->G 12 50538625 50538625 A G snp 81.77 0/1 99 11 5 6 0.55 UTR5 rs2008537 CERS5 AU 0.400759 0.7252 Uncertain 12_50599984_T->A 12 50599984 50599984 T A snp 94.28 1/1 9 3 0 3 1.0 intronic rs1362984 LIMA1 AU NM_016357 exon7 c.29005+133T>A 0.770966 0.8938 Uncertain 12_50616346_A->G 12 50616346 50616346 A G snp 1789.77 0/1 99 155 74 81 0.52 UTR5 rs3812825 LIMA1 AU 0.346046 0.2569 0.3946 0.3280 Uncertain 12_50642314_A->G 12 50642314 50642314 A G snp 1326.77 0/1 99 97 43 54 0.56 intronic rs3815671 LIMA1 AU NM_016357 exon10 c.71569-101A>G 0.333666 0.6369 Uncertain 12_50727706_G->C 12 50727706 50727706 G C snp 1539.77 0/1 99 143 77 66 0.46 exonic rs6580741 FAM186A AU nonsynonymous SNV NM_001145475 exon5 c.C6684G p.H2228Q 0.347244 0.2569 0.3768 0.2395 0.24 T 0.0 P -0.923 T 0.037 T 0.029 T Pathogenic 12_50744094_G->A 12 50744094 50744094 G A snp 1099.77 1/1 81 37 0 37 1.0 intronic rs7296277 FAM186A AU NM_001145475 exon5 c.22946-17G>A 0.969449 1 0.966929 0.9875 1 Uncertain 12_50744119_G->A 12 50744119 50744119 G A snp 469.77 0/1 99 59 42 17 0.29 exonic rs7296291 FAM186A AU nonsynonymous SNV NM_001145475 exon4 c.C6496T p.H2166Y 0.605232 0.7431 0.608629 0.6017 0.7588 1 T 0.000 P -0.942 T 0.0 T 0.0 T Pathogenic 12_50744171_T->C 12 50744171 50744171 T C snp 882.77 0/1 99 93 54 39 0.42 exonic rs7312252 FAM186A AU synonymous SNV NM_001145475 exon4 c.A6444G p.T2148T 0.599441 0.7431 0.602935 0.5936 0.7597 Uncertain 12_50744753_T->C 12 50744753 50744753 T C snp 2528.77 0/1 99 193 90 103 0.53 exonic rs10506292 FAM186A AU synonymous SNV NM_001145475 exon4 c.A5862G p.K1954K 0.605232 0.7431 0.5967 0.7613 Uncertain 12_50746098_A->G 12 50746098 50746098 A G snp 56.74 1/1 6 2 0 2 1.0 exonic rs10876022 FAM186A AU nonsynonymous SNV NM_001145475 exon4 c.T4517C p.L1506P 0.967851 1 0.9532 0.9865 0.48 T 0.0 P -1.074 T 0.0 T 0.0 T Pathogenic 12_50746348_A->G 12 50746348 50746348 A G snp 2506.77 1/1 99 87 0 87 1.0 exonic rs71459098 FAM186A AU nonsynonymous SNV NM_001145475 exon4 c.T4267C p.F1423L 0.969848 1 0.966929 0.9884 1 0.41 T 0.0 P -1.050 T 0.0 T 0.0 T Pathogenic 12_50746917_A->G 12 50746917 50746917 A G snp 1663.77 0/1 99 132 57 75 0.57 exonic rs10876023 FAM186A AU nonsynonymous SNV NM_001145475 exon4 c.T3698C p.L1233P 0.609225 0.744 0.5918 0.7613 1 T 0.0 P -1.008 T 0.004 T 0.005 T Pathogenic 12_50747005_T->C 12 50747005 50747005 T C snp 1467.77 0/1 99 111 46 65 0.59 exonic rs10876024 FAM186A AU nonsynonymous SNV NM_001145475 exon4 c.A3610G p.R1204G 0.605032 0.748 0.5819 0.7642 1 T 0.0 P -0.993 T 0.0 T 0.0 T Pathogenic 12_50749221_G->C 12 50749221 50749221 G C snp 3568.77 1/1 99 134 0 134 1.0 exonic rs4435082 FAM186A AU nonsynonymous SNV NM_001145475 exon4 c.C1394G p.A465G 0.952476 1 0.955103 0.9802 1 1 T 0.0 P -0.975 T 0.0 T 0.0 T Pathogenic 12_50749227_T->G 12 50749227 50749227 T G snp 3591.77 1/1 99 132 1 131 0.99 exonic rs4625558 FAM186A AU nonsynonymous SNV NM_001145475 exon4 c.A1388C p.K463T 0.969449 1 0.9888 1 1 T 0.0 P -0.967 T 0.0 T 0.0 T Pathogenic 12_50749294_A->G 12 50749294 50749294 A G snp 1627.77 0/1 99 124 57 67 0.54 exonic rs4421818 FAM186A AU synonymous SNV NM_001145475 exon4 c.T1321C p.L441L 0.347244 0.2569 0.345817 0.3855 0.2395 Uncertain 12_50750040_C->A 12 50750040 50750040 C A snp 823.77 1/1 60 27 0 27 1.0 intronic rs7964439 FAM186A AU NM_001145475 exon5 c.28866+9C>A 0.952476 1 0.9802 1 Uncertain 12_50754563_T->G 12 50754563 50754563 T G snp 999.77 0/1 99 90 50 40 0.44 exonic rs12303082 FAM186A AU nonsynonymous SNV NM_001145475 exon3 c.A559C p.K187Q 0.605431 0.7431 0.6008 0.7629 0.21 T 0.916 P -1.209 T 0.992 D 0.914 D Pathogenic 12_50824232_A->G 12 50824232 50824232 A G snp 1386.77 0/1 99 93 30 63 0.68 intronic rs11612002 LARP4 AU NM_001170804 exon4 c.29484-45A>G 0.166933 0.3165 0.160003 0.2177 0.3410 Uncertain 12_50824275_C->G 12 50824275 50824275 C G snp 792.77 0/1 99 101 64 37 0.37 splicing rs77680811 LARP4 AU NM_001170804 exon4 c.29484-2C>G 0.222244 0.4653 0.079786 0.1149 0.4492 Pathogenic 12_50829263_-->TATTC 12 50829263 50829263 - TATTC indel 457.8 1/1 18 6 0 6 1.0 intronic rs113327207 LARP4 AU NM_001170804 exon5 c.34477-7insTATTC 0.821486 0.9812 0.831310 0.9132 0.9727 Uncertain 12_50856259_-->A 12 50856259 50856259 - A indel 240.73 0/1 99 34 9 25 0.74 intronic rs370938154 LARP4 AU NM_001170803 exon10 c.61571-105insA 0.583666 0.621 Uncertain 12_50856340_A->C 12 50856340 50856340 A C snp 49.77 0/1 78 81 61 20 0.25 intronic rs765901922 LARP4 AU NM_001170803 exon10 c.61571-24A>C 0.0136 0.0018 Uncertain 12_50860863_A->C 12 50860863 50860863 A C snp 1586.77 0/1 99 133 63 70 0.53 exonic rs17124715 LARP4 AU nonsynonymous SNV NM_001170803 exon11 c.A1079C p.N360T 0.0155751 0.0685 0.0066 0.0740 0.49 T 1.000 N -1.046 T 0.144 T 0.107 T Pathogenic 12_51019634_C->- 12 51019634 51019634 C - indel 151.73 0/1 99 12 5 7 0.58 intronic rs34609458 DIP2B AD NM_173602 exon2 c.120835-124delC 0.481829 0.2202 Uncertain 12_51019796_C->T 12 51019796 51019796 C T snp 1209.77 0/1 99 149 87 62 0.42 exonic rs187283930 DIP2B AD synonymous SNV NM_173602 exon2 c.C138T p.S46S 0.000798722 0.003 0.0003 0.0042 Uncertain 12_51034721_C->T 12 51034721 51034721 C T snp 649.77 1/1 48 21 0 21 1.0 intronic rs2731436 DIP2B AD NM_173602 exon3 c.135712+86C>T 0.952676 1 Uncertain 12_51076844_C->T 12 51076844 51076844 C T snp 819.77 1/1 60 24 0 24 1.0 intronic rs2731447 DIP2B AD NM_173602 exon10 c.177997-76C>T 0.957468 1 Uncertain 12_51086931_T->C 12 51086931 51086931 T C snp 778.77 0/1 99 66 35 31 0.47 intronic rs2090852 DIP2B AD NM_173602 exon14 c.187873+135T>C 0.320487 0.2569 Uncertain 12_51088979_T->G 12 51088979 51088979 T G snp 221.77 0/1 99 35 25 10 0.29 intronic rs34553264 DIP2B AD NM_173602 exon15 c.190126-70T>G 0.320088 0.256 Uncertain 12_51089287_G->T 12 51089287 51089287 G T snp 1036.77 0/1 99 92 51 41 0.45 intronic rs2139930 DIP2B AD NM_173602 exon15 c.190220+144G>T 0.314297 0.256 Uncertain 12_51089365_C->G 12 51089365 51089365 C G snp 125.03 1/1 12 4 0 4 1.0 intronic rs2731444 DIP2B AD NM_173602 exon15 c.190220+222C>G 0.952676 1 Uncertain 12_51089572_G->A 12 51089572 51089572 G A snp 878.77 0/1 99 83 44 39 0.47 intronic rs2684890 DIP2B AD NM_173602 exon16 c.190707-58G>A 0.794329 0.6627 Uncertain 12_51089616_T->C 12 51089616 51089616 T C snp 1492.77 0/1 99 143 77 66 0.46 intronic rs2684891 DIP2B AD NM_173602 exon16 c.190707-14T>C 0.794329 0.6627 0.904736 0.8908 0.6807 Uncertain 12_51089734_T->A 12 51089734 51089734 T A snp 2258.77 0/1 99 241 141 100 0.41 exonic rs11169524 DIP2B AD synonymous SNV NM_173602 exon16 c.T1917A p.T639T 0.320687 0.256 0.340304 0.3183 0.2724 Uncertain 12_51092725_C->T 12 51092725 51092725 C T snp 205.84 1/1 18 8 0 8 1.0 intronic rs2684909 DIP2B AD NM_173602 exon19 c.193925-123C>T 0.959864 1 Uncertain 12_51112586_T->C 12 51112586 51112586 T C snp 1691.77 0/1 99 155 81 74 0.48 exonic rs3803181 DIP2B AD synonymous SNV NM_173602 exon24 c.T2946C p.N982N 0.152356 0.3373 0.036291 0.0934 0.3213 Uncertain 12_51121630_A->- 12 51121630 51121630 A - indel 2888.73 0/1 99 186 84 102 0.55 intronic rs3832875 DIP2B AD NM_173602 exon29 c.222672+35delA 0.319289 0.255 0.340096 0.3188 0.2721 Uncertain 12_51125017_T->G 12 51125017 51125017 T G snp 105.77 0/1 99 9 5 4 0.44 intronic rs3825401 DIP2B AD NM_173602 exon31 c.226228-134T>G 0.151358 0.3373 Uncertain 12_51126133_T->C 12 51126133 51126133 T C snp 1111.77 0/1 99 82 42 40 0.49 intronic DIP2B AD NM_173602 exon32 c.227225-15T>C Uncertain 12_51128141_C->T 12 51128141 51128141 C T snp 161.77 0/1 99 34 25 9 0.26 intronic rs58301497 DIP2B AD NM_173602 exon33 c.229056+162C>T 0.167532 0.3363 Uncertain 12_51128832_A->G 12 51128832 51128832 A G snp 1639.77 0/1 99 118 46 72 0.61 intronic rs3742062 DIP2B AD NM_173602 exon34 c.229932-23A>G 0.316693 0.256 0.332769 0.3099 0.2733 Uncertain 12_51135167_A->G 12 51135167 51135167 A G snp 1576.77 1/1 99 56 1 55 0.98 intronic rs1975351 DIP2B AD NM_173602 exon37 c.236275-31A>G 0.952875 1 0.950484 0.9859 1 Uncertain 12_51135275_T->C 12 51135275 51135275 T C snp 3884.77 1/1 99 152 0 152 1.0 exonic rs1866422 DIP2B AD synonymous SNV NM_173602 exon37 c.T4431C p.I1477I 0.959864 1 0.958942 0.9884 1 Uncertain 12_51138687_A->C 12 51138687 51138687 A C snp 587.77 0/1 99 34 17 17 0.5 UTR3 rs2280503 DIP2B AD 0.317093 0.256 Uncertain 12_51182122_C->T 12 51182122 51182122 C T snp 68.77 0/1 97 15 12 3 0.2 intronic rs10747592 ATF1 AU NM_005171 exon3 c.15763-7569C>T 0.628794 0.6587 0.6998 0.6311 Uncertain 12_51189619_T->C 12 51189619 51189619 T C snp 487.77 0/1 99 47 26 21 0.45 intronic rs3742065 ATF1 AU NM_005171 exon3 c.15763-72T>C 0.114217 0.123 Uncertain 12_51203227_T->- 12 51203227 51203227 T - indel 156.73 0/1 99 14 7 7 0.5 intronic rs398076626 ATF1 AU NM_005171 exon4 c.29310-11delT 0.824481 0.6617 0.939878 0.8984 0.6792 Uncertain 12_51203371_C->T 12 51203371 51203371 C T snp 1112.77 0/1 99 93 43 50 0.54 exonic rs1129406 ATF1 AU synonymous SNV NM_005171 exon4 c.C327T p.Y109Y 0.393371 0.2619 0.446871 0.3655 0.2727 Uncertain 12_51203376_T->C 12 51203376 51203376 T C snp 1112.77 0/1 99 92 42 50 0.54 splicing rs4986838 ATF1 AU NM_005171 exon4 c.29444+4T>C 0.318291 0.2619 0.371213 0.3439 0.2728 Pathogenic 12_51236802_T->C 12 51236802 51236802 T C snp 3290.77 0/1 99 250 115 135 0.54 exonic rs10876100 TMPRSS12 AU nonsynonymous SNV NM_182559 exon1 c.T55C p.Y19H 0.298922 0.4038 0.251667 0.3357 0.4904 0.51 T 0.0 P -1.097 T 0.0 T 0.0 T Pathogenic 12_51236931_G->A 12 51236931 51236931 G A snp 3015.77 1/1 99 96 0 96 1.0 exonic rs829121 TMPRSS12 AU nonsynonymous SNV NM_182559 exon1 c.G184A p.E62K 0.968251 1 0.970222 0.9900 1 0.97 T 0.0 P -1.006 T 0.0 T 0.0 T Pathogenic 12_51319346_A->G 12 51319346 51319346 A G snp 194.77 0/1 99 19 10 9 0.47 intronic rs2359005 METTL7A AU NM_014033 exon1 c.498+27A>G 0.677915 0.6696 0.684778 0.6653 0.6916 Uncertain 12_51354625_G->A 12 51354625 51354625 G A snp 299.78 1/1 24 9 0 9 1.0 intronic rs67646958 HIGD1C AU NM_001109619 exon2 c.6969-125G>A 0.263179 0.494 Uncertain 12_51354692_-->T 12 51354692 51354692 - T indel 1808.73 1/1 99 52 0 52 1.0 intronic rs141832341 HIGD1C AU NM_001109619 exon2 c.6969-58insT 0.262979 0.494 Uncertain 12_51354694_C->T 12 51354694 51354694 C T snp 1550.77 1/1 99 51 0 51 1.0 intronic rs79907213 HIGD1C AU NM_001109619 exon2 c.6969-56C>T 0.263179 0.494 Uncertain 12_51354696_C->T 12 51354696 51354696 C T snp 1661.77 1/1 99 53 0 53 1.0 intronic rs79534240 HIGD1C AU NM_001109619 exon2 c.6969-54C>T 0.263179 0.494 Uncertain 12_51354803_C->T 12 51354803 51354803 C T snp 4087.77 1/1 99 158 0 158 1.0 exonic rs12306808 HIGD1C AU synonymous SNV NM_001109619 exon2 c.C147T p.Y49Y 0.263179 0.494 0.157271 0.2438 0.5384 Uncertain 12_51382232_T->C 12 51382232 51382232 T C snp 2081.77 1/1 99 70 0 70 1.0 intronic rs161044 SLC11A2 AR NM_001174129 exon1 c.111+14T>C 0.895966 0.9881 0.895356 0.9342 0.9804 Uncertain 12_51384823_AATG->- 12 51384823 51384826 AATG - indel 709.73 0/1 99 46 23 23 0.5 intronic rs374971862 SLC11A2 AR NM_001174129 exon2 c.2624+92_2624+95delAATG 0.000798722 0.004 Uncertain 12_51386527_A->G 12 51386527 51386527 A G snp 343.78 1/1 27 12 1 11 0.92 intronic rs224567 SLC11A2 AR NM_001174129 exon5 c.4485-65A>G 0.208466 0.4196 Uncertain 12_51386548_A->G 12 51386548 51386548 A G snp 613.77 1/1 45 22 0 22 1.0 intronic rs224568 SLC11A2 AR NM_001174129 exon5 c.4485-44A>G 0.219249 0.4563 0.129863 0.1848 0.4699 Uncertain 12_51386839_C->G 12 51386839 51386839 C G snp 428.77 1/1 33 13 0 13 1.0 intronic rs224569 SLC11A2 AR NM_001174129 exon5 c.4605+127C>G 0.896765 0.9881 Uncertain 12_51386868_T->C 12 51386868 51386868 T C snp 138.03 1/1 12 6 0 6 1.0 intronic rs224570 SLC11A2 AR NM_001174129 exon5 c.4605+156T>C 0.895966 0.9881 Uncertain 12_51393116_C->T 12 51393116 51393116 C T snp 2906.77 1/1 99 109 0 109 1.0 intronic rs224454 SLC11A2 AR NM_001174129 exon10 c.11020-11C>T 0.21226 0.4573 0.124865 0.1824 0.4660 Uncertain 12_51399050_T->G 12 51399050 51399050 T G snp 1995.77 1/1 99 73 1 72 0.99 intronic rs224589 SLC11A2 AR NM_001174129 exon13 c.16986-43T>G 0.735423 0.873 0.718822 0.7550 0.8672 Uncertain 12_51399997_A->G 12 51399997 51399997 A G snp 185.9 1/1 15 7 0 7 1.0 intronic rs224590 SLC11A2 AR NM_001174129 exon13 c.17112+778A>G 0.895966 0.9881 0.875 1 Uncertain 12_51400085_AAAC->- 12 51400085 51400088 AAAC - indel 514.74 1/1 27 10 0 10 1.0 intronic rs140582579 SLC11A2 AR NM_001174129 exon13 c.17112+866_17112+869delAAAC 0.895966 0.9881 0.75 0.5 Uncertain 12_51402905_T->G 12 51402905 51402905 T G snp 6361.77 1/1 99 231 0 231 1.0 intronic rs445520 SLC11A2 AR NM_001174130 exon15 c.20792+6T>G 0.896166 0.9881 0.9192 0.9848 0.41 T 0.000 P -1.042 T 0.0 T 0.0 T Uncertain 12_51441897_G->A 12 51441897 51441897 G A snp 210.84 1/1 18 7 0 7 1.0 upstream rs3759405 LETMD1 AU 0.566094 0.8938 Uncertain 12_51442944_G->A 12 51442944 51442944 G A snp 5266.77 1/1 99 202 0 202 1.0 exonic rs12379 LETMD1 AU nonsynonymous SNV NM_001243689 exon2 c.G250A p.V84I 0.574281 0.8938 0.406428 0.4645 0.8879 0.19 T 0.006 P -1.017 T 0.004 T 0.017 T Pathogenic 12_51447506_A->G 12 51447506 51447506 A G snp 4538.77 1/1 99 146 0 146 1.0 intronic rs7971308 LETMD1 AU NM_015416 exon4 c.5421-54A>G 0.575479 0.8938 0.403417 Uncertain 12_51457975_C->T 12 51457975 51457975 C T snp 799.77 0/1 99 82 47 35 0.43 exonic rs150988431 CSRNP2 AU nonsynonymous SNV NM_030809 exon5 c.G1186A p.E396K 0.001615 0.0003 0.0001 0.01 T 1.000 D -0.925 T 0.964 D 0.458 D ID=COSM1362306;OCCURENCE=1(large_intestine) Pathogenic 12_51461425_C->G 12 51461425 51461425 C G snp 1028.77 1/1 75 34 0 34 1.0 intronic rs4768956 CSRNP2 AU NM_030809 exon2 c.3927-30C>G 1 1 1 1 Uncertain 12_51461912_A->G 12 51461912 51461912 A G snp 141.03 1/1 12 4 0 4 1.0 intronic rs66781280 CSRNP2 AU NM_030809 exon2 c.4224+160A>G 0.332668 0.6954 Uncertain 12_51467596_A->C 12 51467596 51467596 A C snp 1484.77 1/1 99 49 0 49 1.0 intronic rs11169696 CSRNP2 AU NM_030809 exon3 c.10077-9A>C 0.823682 0.8254 0.885745 0.9014 0.8404 Uncertain 12_51500886_G->T 12 51500886 51500886 G T snp 252.8 1/1 21 7 0 7 1.0 intronic rs12580097 TFCP2 AU NM_001173452 exon9 c.11995-132G>T 0.221845 0.4901 Uncertain 12_51504799_T->C 12 51504799 51504799 T C snp 3542.77 1/1 99 121 0 121 1.0 intronic rs7978782 TFCP2 AU NM_001173452 exon11 c.15743+33T>C 0.934305 1 0.936875 0.9816 1 Uncertain 12_51504895_T->- 12 51504895 51504895 T - indel 163.77 1/1 21 15 0 15 1.0 intronic rs11308041 TFCP2 AU NM_001173452 exon11 c.15743+129delT 0.692492 0.7044 Uncertain 12_51518787_C->G 12 51518787 51518787 C G snp 3006.77 1/1 99 101 0 101 1.0 intronic rs3751275 TFCP2 AU NM_001173452 exon14 c.23532+6232C>G 0.32488 0.6776 0.3074 0.7145 Uncertain 12_51519106_A->G 12 51519106 51519106 A G snp 1027.77 1/1 75 32 0 32 1.0 intronic rs17122760 TFCP2 AU NM_001173452 exon14 c.23532+6551A>G 0.244808 0.5268 Uncertain 12_51632455_G->T 12 51632455 51632455 G T snp 39.74 1/1 6 2 0 2 1.0 upstream rs3888223 DAZAP2 AU 0.498802 0.3621 Uncertain 12_51636259_C->T 12 51636259 51636259 C T snp 1479.77 1/1 99 41 0 41 1.0 exonic rs1049467 DAZAP2 AU synonymous SNV NM_001136266 exon4 c.C447T p.L149L 0.813299 0.8988 0.778342 0.7791 0.8910 Uncertain 12_51639899_A->G 12 51639899 51639899 A G snp 1078.77 0/1 99 104 53 51 0.49 exonic rs114378235 DAZAP2 AU nonsynonymous SNV NM_001136269 exon4 c.A433G p.N145D 0.0569089 0.119 0.028238 0.0192 0.1027 0.09 T 1.000 P -1.077 T 0.0 T 0.0 T Pathogenic 12_51663215_T->C 12 51663215 51663215 T C snp 640.77 1/1 48 19 0 19 1.0 intronic rs2114876 SMAGP AU NM_001033873 exon3 c.23376+115T>C 0.827077 0.9296 Uncertain 12_51678334_C->T 12 51678334 51678334 C T snp 93.28 1/1 9 3 0 3 1.0 intronic rs3847855 BIN2 AU NM_001290009 exon2 c.3217-165C>T 0.907149 1 Uncertain 12_51681846_C->T 12 51681846 51681846 C T snp 442.77 1/1 33 17 0 17 1.0 intronic rs4611251 BIN2 AU NM_001290009 exon3 c.6609-45C>T 0.834465 0.9296 0.804167 0.8836 0.9365 Uncertain 12_51681903_T->C 12 51681903 51681903 T C snp 774.77 1/1 57 27 0 27 1.0 exonic rs7954976 BIN2 AU nonsynonymous SNV NM_001290008 exon10 c.A1585G p.N529D 0.834465 0.9296 0.804629 0.8845 0.9370 1 T 0.0 P -0.974 T 0.0 T 0.0 T Pathogenic 12_51685831_T->C 12 51685831 51685831 T C snp 3527.77 1/1 99 115 0 115 1.0 exonic rs3210837 BIN2 AU synonymous SNV NM_001290008 exon9 c.A1059G p.E353E 0.78115 0.8433 0.770721 0.8428 0.8423 Uncertain 12_51686204_T->C 12 51686204 51686204 T C snp 2004.77 1/1 99 74 0 74 1.0 intronic rs7306505 BIN2 AU NM_001290009 exon4 c.10846+76T>C 0.780751 0.8433 Uncertain 12_51686285_A->T 12 51686285 51686285 A T snp 545.77 1/1 42 15 0 15 1.0 intronic rs7135343 BIN2 AU NM_001290009 exon4 c.10846+157A>T 0.78095 0.8442 Uncertain 12_51691127_C->T 12 51691127 51691127 C T snp 590.77 0/1 99 55 32 23 0.42 intronic rs3782468 BIN2 AU NM_001290009 exon6 c.15666+179C>T 0.275359 0.1875 Uncertain 12_51691149_A->G 12 51691149 51691149 A G snp 315.77 0/1 99 28 17 11 0.39 intronic rs3782469 BIN2 AU NM_001290009 exon6 c.15666+201A>G 0.469649 0.3433 Uncertain 12_51693357_G->A 12 51693357 51693357 G A snp 819.77 0/1 99 64 30 34 0.53 intronic rs2288368 BIN2 AU NM_001290009 exon8 c.18108-33G>A 0.503994 0.4236 0.560664 0.5171 0.4139 Uncertain 12_51695708_C->T 12 51695708 51695708 C T snp 1013.77 0/1 99 85 42 43 0.51 intronic rs74093810 BIN2 AU NM_001290009 exon9 c.20521-95C>T 0.140176 0.2232 Uncertain 12_51696500_G->A 12 51696500 51696500 G A snp 1142.77 0/1 99 87 41 46 0.53 exonic rs7975715 BIN2 AU synonymous SNV NM_001290007 exon4 c.C204T p.D68D 0.141573 0.2282 0.128479 0.1102 0.2306 Uncertain 12_51707626_C->T 12 51707626 51707626 C T snp 1136.77 0/1 99 95 48 47 0.49 exonic rs7312857 BIN2 AU nonsynonymous SNV NM_001290007 exon2 c.G65A p.S22N 0.14976 0.246 0.133323 0.1130 0.2486 0.26 T 0.000 P -1.008 T 0.0 T 0.001 T Pathogenic 12_51722311_C->T 12 51722311 51722311 C T snp 1735.77 1/1 99 57 0 57 1.0 UTR3 rs7138439 CELA1 AU 0.622005 0.6528 0.632554 0.6634 0.6543 Uncertain 12_51733951_A->C 12 51733951 51733951 A C snp 615.77 0/1 88 22 4 18 0.82 intronic rs12816187 CELA1 AU NM_001971 exon3 c.11429+162A>C 0.428514 0.5883 Uncertain 12_51735022_A->T 12 51735022 51735022 A T snp 2032.77 0/1 99 174 87 87 0.5 splicing rs934089 CELA1 AU NM_001971 exon4 c.12667-5A>T 0.494609 0.4117 0.521375 0.5571 0.4099 Pathogenic 12_51739471_T->C 12 51739471 51739471 T C snp 471.77 0/1 99 32 11 21 0.66 intronic rs12582273 CELA1 AU NM_001971 exon7 c.17218-107T>C 0.218051 0.1845 Uncertain 12_51740280_G->C 12 51740280 51740280 G C snp 359.77 0/1 99 36 21 15 0.42 intronic rs17860283 CELA1 AU NM_001971 exon8 c.18046-126G>C 0.0311502 0.1399 Uncertain 12_51740409_T->G 12 51740409 51740409 T G snp 293.77 0/1 99 77 63 14 0.18 exonic rs117443541 CELA1 AU nonsynonymous SNV NM_001971 exon1 c.A14C p.Y5S 0.367412 0.5546 0.0002 0 0.14 T 1 N -0.693 T 0.112 T 0.024 T Pathogenic 12_51740410_A->G 12 51740410 51740410 A G snp 290.77 0/1 99 77 63 14 0.18 exonic rs116944010 CELA1 AU nonsynonymous SNV NM_001971 exon1 c.T13C p.Y5H 0.367412 0.5546 0.0002 0 0.22 T 1.000 N -0.633 T 0.001 T 0.001 T Pathogenic 12_51748395_G->A 12 51748395 51748395 G A snp 1177.77 1/1 87 40 0 40 1.0 intronic rs7971653 GALNT6 AU NM_007210 exon1 c.114+119G>A 0.942891 1 Uncertain 12_51754370_A->G 12 51754370 51754370 A G snp 37.77 0/1 62 4 2 2 0.5 intronic rs6580827 GALNT6 AU NM_007210 exon6 c.6342-134A>G 0.571486 0.6141 Uncertain 12_51754629_A->G 12 51754629 51754629 A G snp 1478.77 1/1 99 52 0 52 1.0 intronic rs2241545 GALNT6 AU NM_007210 exon6 c.6460+7A>G 0.378794 0.6925 0.205828 0.3460 0.7032 Uncertain 12_51796890_TTAGGTAATAGGTATAAACTGCTCAGAACAGTGCTCAGAACATAATAAATGC->- 12 51796890 51796941 TTAGGTAATAGGTATAAACTGCTCAGAACAGTGCTCAGAACATAATAAATGC - indel 5963.73 0/1 99 43 32 11 0.26 intronic rs376258966 SLC4A8 AU 0.248003 0.3036 Uncertain 12_51818666_C->T 12 51818666 51818666 C T snp 1630.77 0/1 99 136 62 74 0.54 UTR5 rs562699933 SLC4A8 AU 0.0061901 0.0069 Uncertain 12_51845695_C->T 12 51845695 51845695 C T snp 54.74 1/1 6 2 0 2 1.0 intronic rs1995690 SLC4A8 AU NM_001258403 exon4 c.1219-212C>T 0.901558 0.9067 Uncertain 12_51846090_G->A 12 51846090 51846090 G A snp 631.77 1/1 48 18 0 18 1.0 intronic rs1995691 SLC4A8 AU NM_001258403 exon4 c.1355+47G>A 0.518171 0.4534 0.543134 0.5238 0.4738 Uncertain 12_51851126_G->A 12 51851126 51851126 G A snp 2933.77 1/1 99 101 0 101 1.0 intronic rs4512904 SLC4A8 AU NM_001258403 exon6 c.6446-8G>A 0.518171 0.4534 0.543134 0.5259 0.4731 Uncertain 12_51852511_C->T 12 51852511 51852511 C T snp 2527.77 1/1 99 85 0 85 1.0 intronic rs6580835 SLC4A8 AU NM_001258403 exon7 c.7746+77C>T 0.439297 0.3661 Uncertain 12_51855984_G->A 12 51855984 51855984 G A snp 1014.77 1/1 75 30 0 30 1.0 intronic rs2271149 SLC4A8 AU NM_001258403 exon10 c.11405-109G>A 0.520966 0.4663 Uncertain 12_51863643_T->C 12 51863643 51863643 T C snp 1135.77 1/1 84 36 0 36 1.0 intronic rs4491281 SLC4A8 AU NM_001258403 exon12 c.18884+71T>C 0.901158 0.9067 Uncertain 12_51864979_T->C 12 51864979 51864979 T C snp 5233.77 1/1 99 192 0 192 1.0 intronic rs2292217 SLC4A8 AU NM_001258403 exon14 c.20382-91T>C 0.520367 0.4643 Uncertain 12_51869098_G->A 12 51869098 51869098 G A snp 1245.77 1/1 93 32 0 32 1.0 intronic rs868884 SLC4A8 AU NM_001258403 exon16 c.24302+108G>A 0.517971 0.4534 Uncertain 12_51874054_C->T 12 51874054 51874054 C T snp 174.77 0/1 99 22 14 8 0.36 UTR3 rs4761970 SLC4A8 AU 0.246406 0.0933 0.3765 0.0816 Uncertain 12_51874153_G->A 12 51874153 51874153 G A snp 93.28 1/1 9 3 0 3 1.0 UTR3 rs7133321 SLC4A8 AU 0.901358 0.9067 Uncertain 12_51879826_G->T 12 51879826 51879826 G T snp 465.77 1/1 36 14 0 14 1.0 intronic rs10783445 SLC4A8 AU NM_001258401 exon17 c.34996+142G>T 0.899561 0.9067 Uncertain 12_51890721_G->A 12 51890721 51890721 G A snp 1168.77 1/1 87 39 0 39 1.0 intronic rs10783448 SLC4A8 AU NM_001258401 exon22 c.46082-49G>A 0.435104 0.3671 0.479592 0.4944 0.3674 Uncertain 12_51898014_A->G 12 51898014 51898014 A G snp 3222.65 1/1 99 112 0 112 1.0 intronic rs3896351 SLC4A8 AU NM_001258401 exon23 c.53216+110A>G 0.435503 0.3681 Uncertain 12_51898108_G->A 12 51898108 51898108 G A snp 681.77 1/1 51 18 0 18 1.0 intronic rs3858636 SLC4A8 AU NM_001258401 exon23 c.53216+204G>A 0.435503 0.3681 Uncertain 12_51899768_C->T 12 51899768 51899768 C T snp 310.77 0/1 99 35 23 12 0.34 intronic rs57024323 SLC4A8 AU NM_001258401 exon24 c.55026+54C>T 0.0722843 0.0933 0.041411 Uncertain 12_51901390_A->G 12 51901390 51901390 A G snp 1096.77 1/1 81 30 0 30 1.0 UTR3 rs7305599 SLC4A8 AU 0.514976 0.4563 Uncertain 12_52080965_C->T 12 52080965 52080965 C T snp 7520.77 1/1 99 248 0 248 1.0 exonic rs4761829 SCN8A AD synonymous SNV NM_014191 exon5 c.C576T p.D192D 0.784944 0.994 0.800147 0.8367 0.9934 Uncertain 12_52096441_GTTATTTATTATCTCCAAGGTCATGGAGTAAATAGAATTAT->- 12 52096441 52096481 GTTATTTATTATCTCCAAGGTCATGGAGTAAATAGAATTAT - indel 3363.73 0/1 99 16 8 8 0.5 intronic rs146979237 SCN8A AD NM_001177984 exon9 c.39955-115_39955-75delGTTATTTATTATCTCCAAGGTCATGGAGTAAATAGAATTAT 0.0778754 0.0734 Uncertain 12_52099153_C->T 12 52099153 52099153 C T snp 1836.77 0/1 99 174 96 78 0.45 intronic rs2291265 SCN8A AD NM_001177984 exon10 c.42599-47C>T 0.723842 0.8968 0.779584 0.8141 0.9003 Uncertain 12_52100566_G->A 12 52100566 52100566 G A snp 50.77 0/1 79 20 17 3 0.15 intronic rs10783474 SCN8A AD NM_001177984 exon11 c.43898+67G>A 0.73103 0.8968 Uncertain 12_52139645_A->C 12 52139645 52139645 A C snp 161.77 0/1 94 9 3 6 0.67 intronic rs189088148 SCN8A AD NM_001177984 exon13 c.83085-41A>C 0.00439297 0.002 0.0029 0.0046 Uncertain 12_52156255_A->C 12 52156255 52156255 A C snp 4185.77 1/1 99 151 0 151 1.0 intronic rs303767 SCN8A AD NM_001177984 exon15 c.99685-31A>C 0.846046 0.9742 0.864639 0.8700 0.9779 Uncertain 12_52159438_-->T 12 52159438 52159438 - T indel 269.14 1/1 10 14 1 13 0.93 intronic rs397698424 SCN8A AD NM_001177984 exon16 c.102853-16insT 0.712562 0.7416 0.8197 Uncertain 12_52163789_G->A 12 52163789 52163789 G A snp 259.77 0/1 99 16 5 11 0.69 intronic rs303808 SCN8A AD NM_001177984 exon18 c.107168+20G>A 0.707468 0.8879 0.754899 0.7915 0.8958 Uncertain 12_52173781_-->TTC 12 52173781 52173781 - TTC indel 423.75 1/1 24 8 0 8 1.0 intronic rs10642321 SCN8A AD NM_014191 exon21 c.117831-651insTTC 0.840855 0.9732 Uncertain 12_52184271_T->C 12 52184271 52184271 T C snp 849.77 0/1 99 78 40 38 0.49 exonic rs303815 SCN8A AD synonymous SNV NM_014191 exon25 c.T4509C p.P1503P 0.503794 0.5724 0.625602 0.6500 0.5779 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000118283.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 12_52200028_C->A 12 52200028 52200028 C A snp 1584.77 1/1 99 53 0 53 1.0 intronic rs303828 SCN8A AD NM_001177984 exon26 c.143464-37C>A 0.839657 0.9732 0.845300 0.8684 0.9779 Uncertain 12_52200742_C->A 12 52200742 52200742 C A snp 3151.77 0/1 99 250 134 116 0.46 exonic rs60637 SCN8A AD synonymous SNV NM_014191 exon27 c.C5472A p.P1824P 0.489018 0.5665 0.606555 0.6416 0.5735 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000118287.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 12_52204246_T->C 12 52204246 52204246 T C snp 3416.77 1/1 99 107 0 107 1.0 UTR3 rs172559 SCN8A AD 0.838458 0.9742 0.7537 0.9804 Uncertain 12_52215102_T->G 12 52215102 52215102 T G snp 3462.77 1/1 99 127 0 127 1.0 exonic rs303819 FIGNL2 AU nonsynonymous SNV NM_001013690 exon2 c.A1096C p.T366P 0.840256 0.9742 0.887568 0.7597 0.9808 Pathogenic 12_52215205_C->T 12 52215205 52215205 C T snp 916.77 0/1 99 92 50 42 0.46 exonic rs116545797 FIGNL2 AU synonymous SNV NM_001013690 exon2 c.G993A p.K331K 0.0794728 0.0377 0.034519 0.1119 0.0888 Uncertain 12_52215670_G->C 12 52215670 52215670 G C snp 363.77 0/1 99 23 5 18 0.78 exonic rs77899420 FIGNL2 AU synonymous SNV NM_001013690 exon2 c.C528G p.G176G 0 . Uncertain 12_52225638_T->A 12 52225638 52225638 T A snp 429.77 0/1 99 70 48 22 0.31 UTR5 rs633370 FIGNL2 AU 0.391973 0.4623 Uncertain 12_52281920_G->A 12 52281920 52281920 G A snp 1299.77 0/1 99 123 65 58 0.47 UTR5 rs697633 ANKRD33 AU 0.467252 0.4871 0.380209 0.4256 0.4892 Uncertain 12_52282060_C->T 12 52282060 52282060 C T snp 3095.77 0/1 99 249 133 116 0.47 exonic rs697634 ANKRD33 AU synonymous SNV NM_182608 exon1 c.C90T p.R30R 0.331669 0.4117 0.258112 0.3460 0.4098 Uncertain 12_52282748_G->A 12 52282748 52282748 G A snp 1403.77 0/1 99 105 50 55 0.52 intronic rs697635 ANKRD33 AU NM_182608 exon3 c.880-102G>A 0.332668 0.4206 0.3532 0.4285 Uncertain 12_52282873_A->T 12 52282873 52282873 A T snp 2074.77 0/1 99 194 100 94 0.48 exonic rs697636 ANKRD33 AU nonsynonymous SNV NM_001130015 exon3 c.A14T p.Y5F 0.323882 0.4216 0.264032 0.3442 0.4275 0.51 T 0.000 P -0.973 T 0.99 D 0.829 D Pathogenic 12_52284233_T->C 12 52284233 52284233 T C snp 6242.77 1/1 99 218 0 218 1.0 exonic rs706832 ANKRD33 AU synonymous SNV NM_001304459 exon5 c.T285C p.P95P 0.9998 1 0.9999 1 Uncertain 12_52284668_C->A 12 52284668 52284668 C A snp 2654.77 0/1 99 245 134 111 0.45 exonic rs12368048 ANKRD33 AU nonsynonymous SNV NM_001304460 exon4 c.C356A p.T119N 0.165136 0.1677 0.183531 0.2012 0.1773 0.01 T 1.000 P -1.147 T 0.998 D 0.952 D Pathogenic 12_52307145_C->T 12 52307145 52307145 C T snp 1351.77 0/1 99 144 88 56 0.39 intronic rs2071218 ACVRL1 AD NM_000020 exon3 c.876+11C>T 0.43111 0.2669 0.472859 0.4263 0.2826 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_provided|not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter|criteria_provided\x2c_single_submitter;CLNACC=RCV000123530.1|RCV000150155.1;CLNDSDB=MedGen|MedGen;CLNDSDBID=CN221809|CN169374 Uncertain 12_52307308_A->G 12 52307308 52307308 A G snp 273.77 0/1 54 10 2 8 0.8 intronic rs2071219 ACVRL1 AD NM_000020 exon4 c.1084-34A>G 0.436701 0.2708 0.478180 0.4577 0.3352 Uncertain 12_52307964_CAGAATTGGAATTCTGCTGGG->- 12 52307964 52307984 CAGAATTGGAATTCTGCTGGG - indel 3430.73 0/1 99 52 26 26 0.5 intronic rs67833112 ACVRL1 AD NM_000020 exon5 c.1599+107_1599+127delCAGAATTGGAATTCTGCTGGG 0.142173 0.3562 Uncertain 12_52312944_T->C 12 52312944 52312944 T C snp 846.77 0/1 99 74 39 35 0.47 intronic rs706815 ACVRL1 AD NM_000020 exon9 c.6641+45T>C 0.34345 0.4444 0.324927 0.2843 0.4350 Uncertain 12_52312964_A->G 12 52312964 52312964 A G snp 526.77 0/1 99 55 34 21 0.38 intronic rs706816 ACVRL1 AD NM_000020 exon9 c.6641+65A>G 0.343251 0.4435 0.3076 0.4565 Uncertain 12_52345498_GCG->- 12 52345498 52345500 GCG - indel 1596.73 1/1 96 32 0 32 1.0 UTR5 rs10540557 ACVR1B AU 0.852037 0.9742 0.8427 0.9572 Uncertain 12_52404618_T->G 12 52404618 52404618 T G snp 722.77 0/1 99 44 15 29 0.66 intronic rs1298913 GRASP AU NM_181711 exon3 c.3861-46T>G 0.74361 0.6329 0.804706 0.7301 0.6319 Uncertain 12_52437491_G->A 12 52437491 52437491 G A snp 46.78 0/1 27 3 1 2 0.67 intronic rs2242107 NR4A1 AU NM_001202233 exon2 c.37+1778G>A 0.501198 0.501 Uncertain 12_52450046_C->T 12 52450046 52450046 C T snp 136.77 0/1 99 16 10 6 0.38 intronic rs12812582 NR4A1 AU NM_001202233 exon4 c.14267+103C>T 0.247005 0.3919 Uncertain 12_52565322_G->T 12 52565322 52565322 G T snp 5571.77 1/1 99 202 0 202 1.0 exonic rs3741737 KRT80 AU synonymous SNV NM_001081492 exon9 c.C1254A p.P418P 0.759784 0.8889 0.788636 0.8007 0.8952 Uncertain 12_52566047_G->A 12 52566047 52566047 G A snp 530.77 0/1 99 52 30 22 0.42 exonic rs3741736 KRT80 AU synonymous SNV NM_001081492 exon7 c.C1113T p.N371N 0.331669 0.2907 0.358834 0.3601 0.2520 Uncertain 12_52574780_A->G 12 52574780 52574780 A G snp 68.77 0/1 97 9 6 3 0.33 intronic rs4762060 KRT80 AU NM_182507 exon7 c.9566+33A>G 0.758786 0.7202 0.729659 0.7175 0.7298 Uncertain 12_52600008_T->C 12 52600008 52600008 T C snp 1708.77 0/1 99 129 61 68 0.53 intronic C12orf80 AU NM_001242696 exon1 c.65+45T>C Uncertain 12_52600033_T->C 12 52600033 52600033 T C snp 1205.77 0/1 99 105 53 52 0.5 intronic rs10747632 C12orf80 AU NM_001242696 exon1 c.65+70T>C 0.881789 0.9891 Uncertain 12_52602013_C->T 12 52602013 52602013 C T snp 1869.77 0/1 99 152 73 79 0.52 exonic rs1902767 C12orf80 AU nonsynonymous SNV NM_001242696 exon2 c.G113A p.R38Q 0.909545 0.9901 0.8539 0.9804 Pathogenic 12_52626953_-->C 12 52626953 52626953 - C indel 302.75 1/1 24 8 0 8 1.0 upstream rs397694749 KRT7 AU 0.999601 1 Uncertain 12_52627007_C->T 12 52627007 52627007 C T snp 407.77 0/1 99 46 30 16 0.35 UTR5 rs7308751 KRT7 AU 0.632588 0.501 Uncertain 12_52627215_A->G 12 52627215 52627215 A G snp 2980.77 1/1 99 105 0 105 1.0 exonic rs7308888 KRT7 AU synonymous SNV NM_005556 exon1 c.A135G p.S45S 0.888778 0.9048 0.862389 0.8260 0.8967 Uncertain 12_52631242_C->T 12 52631242 52631242 C T snp 584.77 0/1 99 48 24 24 0.5 intronic rs12313552 KRT7 AU NM_005556 exon3 c.4212-50C>T 0.258986 0.2827 0.285637 0.3112 0.2793 Uncertain 12_52631313_A->G 12 52631313 52631313 A G snp 3695.77 1/1 99 140 0 140 1.0 exonic rs6580870 KRT7 AU nonsynonymous SNV NM_005556 exon3 c.A557G p.H186R 0.872005 0.9028 0.836383 0.8322 0.8968 0.67 T 0.0 P -0.910 T 0.0 T 0.001 T Pathogenic 12_52631394_-->AT 12 52631394 52631394 - AT indel 7500.73 1/1 99 152 0 152 1.0 intronic rs10637094 KRT7 AU NM_005556 exon3 c.4273+41insAT 0.871805 0.9018 0.836901 0.8304 0.8952 Uncertain 12_52631409_C->T 12 52631409 52631409 C T snp 1247.77 0/1 99 139 87 52 0.37 intronic rs11170058 KRT7 AU NM_005556 exon3 c.4273+56C>T 0.182907 0.4048 0.060447 Uncertain 12_52632573_A->G 12 52632573 52632573 A G snp 1882.77 0/1 99 196 107 89 0.45 intronic rs7300317 KRT7 AU NM_005556 exon4 c.5479+14A>G 0.480831 0.3145 0.565354 0.5136 0.3107 Uncertain 12_52635241_G->C 12 52635241 52635241 G C snp 412.77 0/1 99 22 9 13 0.59 intronic rs2078201 KRT7 AU NM_005556 exon5 c.8175-14G>C 0.199281 0.4673 0.1181 0.4520 Uncertain 12_52635360_G->A 12 52635360 52635360 G A snp 1695.77 0/1 99 161 91 70 0.43 exonic rs999665 KRT7 AU synonymous SNV NM_005556 exon5 c.G798A p.A266A 0.423722 0.3145 0.508227 0.4941 0.3086 Uncertain 12_52635443_T->C 12 52635443 52635443 T C snp 3592.77 1/1 99 130 0 130 1.0 intronic rs2243588 KRT7 AU NM_005556 exon5 c.8340+23T>C 0.853435 0.9028 0.815470 0.8272 0.8972 Uncertain 12_52635560_A->T 12 52635560 52635560 A T snp 236.77 0/1 99 13 4 9 0.69 intronic rs999666 KRT7 AU NM_005556 exon5 c.8340+140A>T 0.443291 0.3145 Uncertain 12_52636747_G->A 12 52636747 52636747 G A snp 475.77 0/1 99 34 13 21 0.62 intronic rs2298798 KRT7 AU NM_005556 exon6 c.9715-48G>A 0.00599042 0.0298 0.000077 0.0028 0.0356 Uncertain 12_52639302_G->C 12 52639302 52639302 G C snp 1394.77 1/1 99 53 0 53 1.0 exonic rs2608009 KRT7 AU nonsynonymous SNV NM_005556 exon7 c.G1091C p.G364A 0.892173 0.9067 0.847993 0.8372 0.8946 1 T 0.000 P -0.915 T 0.0 T 0.0 T Pathogenic 12_52641711_G->A 12 52641711 52641711 G A snp 99.28 1/1 9 4 0 4 1.0 intronic rs1870220 KRT7 AU NM_005556 exon8 c.14880-249G>A 0.369609 0.5833 Uncertain 12_52645754_T->C 12 52645754 52645754 T C snp 2407.77 0/1 99 207 96 111 0.54 intergenic rs1894035 KRT7 AU 0.213658 0.1458 Uncertain 12_52646239_G->A 12 52646239 52646239 G A snp 1627.77 1/1 99 68 0 68 1.0 intergenic rs142275875 KRT7 AU 0.019369 0.0863 0.0069 0.0850 Uncertain 12_52660812_G->A 12 52660812 52660812 G A snp 1939.77 0/1 99 165 80 85 0.52 intergenic rs2852474 KRT7 AU 0.195487 0.0962 0.2537 0.1207 Uncertain 12_52660904_C->T 12 52660904 52660904 C T snp 849.77 0/1 99 59 28 31 0.53 intergenic rs2857686 KRT7 AU 0.498403 0.2798 0.4872 0.3127 Uncertain 12_52661192_A->G 12 52661192 52661192 A G snp 1717.77 0/1 99 171 98 73 0.43 intergenic rs1870222 KRT7 AU 0.797524 0.6974 0.8147 0.7415 0 D -1.064 T Uncertain 12_52661196_G->A 12 52661196 52661196 G A snp 1612.77 0/1 99 163 93 70 0.43 intergenic rs2077346 KRT7 AU 0.188099 0.0962 0.2428 0.1180 0.18 T -1.023 T Uncertain 12_52661209_T->C 12 52661209 52661209 T C snp 1601.77 0/1 99 147 80 67 0.46 intergenic rs1870223 KRT7 AU 0.832468 0.6974 0.8212 0.7365 Uncertain 12_52661302_C->A 12 52661302 52661302 C A snp 1458.77 1/1 99 44 0 44 1.0 intergenic rs1870224 KRT7 AU 0.910343 0.9881 0.8677 0.9936 0 D -1.011 T Uncertain 12_52680008_T->C 12 52680008 52680008 T C snp 839.77 0/1 99 66 34 32 0.48 UTR3 rs3657 KRT81 AD 0.394569 0.1597 0.499921 0.4625 0.1916 Uncertain 12_52681416_T->C 12 52681416 52681416 T C snp 899.77 0/1 99 95 56 39 0.41 exonic rs7300801 KRT81 AD synonymous SNV NM_002281 exon6 c.A990G p.Q330Q 0.420527 0.1577 0.513763 0.4633 0.1945 Uncertain 12_52681437_A->G 12 52681437 52681437 A G snp 1267.77 0/1 99 127 73 54 0.43 exonic rs3187034 KRT81 AD synonymous SNV NM_002281 exon6 c.T969C p.N323N 0.420527 0.1577 0.531380 0.4619 0.1931 Uncertain 12_52681533_T->C 12 52681533 52681533 T C snp 2157.77 0/1 99 187 88 99 0.53 intronic rs7300941 KRT81 AD NM_002281 exon4 c.1467+28T>C 0.420527 0.1577 0.536368 0.4637 0.1958 Uncertain 12_52681714_T->C 12 52681714 52681714 T C snp 3172.77 1/1 99 91 0 91 1.0 intronic rs6580872 KRT81 AD NM_002281 exon5 c.1729-53T>C 0.936302 0.996 Uncertain 12_52681733_A->C 12 52681733 52681733 A C snp 1650.77 0/1 99 121 56 65 0.54 intronic rs7954186 KRT81 AD NM_002281 exon5 c.1729-34A>C 0.45008 0.1577 0.563432 0.4723 0.1971 Uncertain 12_52681925_A->C 12 52681925 52681925 A C snp 3891.77 1/1 99 159 0 159 1.0 exonic rs6580873 KRT81 AD nonsynonymous SNV NM_002281 exon5 c.T743G p.L248R 0.936102 0.996 0.877595 0.8753 0.9972 1 T 0.0 P -0.926 T 0.0 T 0.0 T Pathogenic 12_52681968_T->C 12 52681968 52681968 T C snp 1781.77 1/1 99 64 0 64 1.0 intronic rs6580874 KRT81 AD NM_002281 exon5 c.1894+36T>C 0.99361 1 0.988438 0.9878 1 Uncertain 12_52682141_G->A 12 52682141 52682141 G A snp 284.77 0/1 99 28 16 12 0.43 splicing rs12812669 KRT81 AD NM_002281 exon6 c.2106-3G>A 0.1873 0.0982 0.226050 0.2405 0.1140 CLINSIG=untested;CLNDBN=not_provided;CLNREVSTAT=no_assertion_provided;CLNACC=RCV000056953.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Pathogenic 12_52695630_C->T 12 52695630 52695630 C T snp 1044.77 0/1 99 126 76 50 0.4 upstream rs1894033 KRT86 AD 0.154353 0.0883 Uncertain 12_52695754_C->T 12 52695754 52695754 C T snp 1932.77 0/1 99 180 94 86 0.48 exonic rs74651927 KRT86 AD synonymous SNV NM_002284 exon1 c.C54T p.C18C 0.154553 0.0883 0.152916 0.1540 0.0935 Uncertain 12_52695787_C->T 12 52695787 52695787 C T snp 1462.77 0/1 99 123 57 66 0.54 exonic rs112261068 KRT86 AD synonymous SNV NM_002284 exon1 c.C87T p.A29A 0.155351 0.0903 0.152490 0.1556 0.0942 Uncertain 12_52699548_T->C 12 52699548 52699548 T C snp 1700.77 0/1 99 142 66 76 0.54 exonic rs2032360 KRT86 AD synonymous SNV NM_002284 exon6 c.T1002C p.A334A 0.455272 0.4921 0.3431 0.4651 Uncertain 12_52700100_C->A 12 52700100 52700100 C A snp 121.77 0/1 99 10 5 5 0.5 intronic rs11612715 KRT86 AD NM_002284 exon7 c.4364+36C>A 0.477835 0.2321 0.544133 0.4681 0.2650 Uncertain 12_52708420_G->A 12 52708420 52708420 G A snp 880.77 1/1 63 38 0 38 1.0 exonic rs2857671 KRT83 AD nonsynonymous SNV NM_002282 exon9 c.C1477T p.H493Y 0.736222 0.6776 0.749072 0.6998 0.6746 1 T 0.0 P -0.941 T 0.0 T 0.0 T Pathogenic 12_52708565_A->G 12 52708565 52708565 A G snp 1333.77 1/1 93 55 0 55 1.0 exonic rs2857670 KRT83 AD synonymous SNV NM_002282 exon9 c.T1332C p.D444D 0.711462 0.6776 0.726712 0.6855 0.6752 Uncertain 12_52708978_T->C 12 52708978 52708978 T C snp 699.77 1/1 51 21 0 21 1.0 intronic rs3825221 KRT83 AD NM_002282 exon2 c.681-117T>C 0.711462 0.6776 Uncertain 12_52709032_T->C 12 52709032 52709032 T C snp 1630.77 1/1 99 55 0 55 1.0 intronic rs3741721 KRT83 AD NM_002282 exon2 c.681-63T>C 0.711462 0.6776 0.728647 Uncertain 12_52709222_T->C 12 52709222 52709222 T C snp 935.77 0/1 99 72 34 38 0.53 intronic rs3741720 KRT83 AD NM_002282 exon2 c.713+95T>C 0.176917 0.4325 Uncertain 12_52709880_A->G 12 52709880 52709880 A G snp 872.77 0/1 99 58 24 34 0.59 exonic rs2852468 KRT83 AD synonymous SNV NM_002282 exon7 c.T1059C p.A353A 0.375799 0.1885 0.426111 0.3783 0.2003 Uncertain 12_52709883_T->C 12 52709883 52709883 T C snp 848.77 0/1 99 58 25 33 0.57 exonic rs2248473 KRT83 AD synonymous SNV NM_002282 exon7 c.A1056G p.E352E 0.375799 0.1885 0.421036 0.3784 0.2004 Uncertain 12_52709981_C->A 12 52709981 52709981 C A snp 155.77 0/1 99 11 5 6 0.55 intronic rs2270266 KRT83 AD NM_002282 exon3 c.1483+84C>A 0.341853 0.4891 Uncertain 12_52710198_C->T 12 52710198 52710198 C T snp 146.77 0/1 97 8 3 5 0.63 intronic rs55722266 KRT83 AD NM_002282 exon4 c.1837-53C>T 0.375799 0.1885 Uncertain 12_52710246_T->C 12 52710246 52710246 T C snp 660.77 0/1 99 42 20 22 0.52 splicing rs2270267 KRT83 AD NM_002282 exon4 c.1837-5T>C 0.375599 0.1885 0.437260 0.3826 0.2016 Pathogenic 12_52710309_G->A 12 52710309 52710309 G A snp 1322.77 0/1 99 104 51 53 0.51 exonic rs2257286 KRT83 AD synonymous SNV NM_002282 exon6 c.C984T p.N328N 0.375799 0.1885 0.437240 0.3828 0.2023 Uncertain 12_52710715_G->A 12 52710715 52710715 G A snp 2646.77 0/1 99 250 133 117 0.47 exonic rs2857669 KRT83 AD synonymous SNV NM_002282 exon5 c.C843T p.A281A 0.375799 0.1885 0.437490 0.3828 0.2025 Uncertain 12_52710721_G->C 12 52710721 52710721 G C snp 2860.77 0/1 99 250 133 117 0.47 exonic rs2852464 KRT83 AD nonsynonymous SNV NM_002282 exon5 c.C837G p.I279M 0.359225 0.1885 0.407812 0.3624 0.2031 0.01 T 0.004 P -1.097 T 0.765 T 0.841 P Pathogenic 12_52710897_T->C 12 52710897 52710897 T C snp 964.77 0/1 99 110 70 40 0.36 intronic rs2852463 KRT83 AD NM_002282 exon5 c.2393+90T>C 0.375799 0.1885 Uncertain 12_52710898_G->A 12 52710898 52710898 G A snp 1040.77 0/1 99 106 66 40 0.38 intronic rs2857668 KRT83 AD NM_002282 exon5 c.2393+91G>A 0.375599 0.1885 Uncertain 12_52710913_A->G 12 52710913 52710913 A G snp 921.77 0/1 99 84 49 35 0.42 intronic rs2852462 KRT83 AD NM_002282 exon5 c.2393+106A>G 0.375799 0.1885 Uncertain 12_52711416_A->G 12 52711416 52711416 A G snp 84.77 0/1 30 5 1 4 0.8 intronic rs2852460 KRT83 AD NM_002282 exon6 c.3050-48A>G 0.375799 0.1885 0.436798 0.3827 0.2011 Uncertain 12_52711450_T->C 12 52711450 52711450 T C snp 350.78 1/1 27 12 0 12 1.0 intronic rs2248619 KRT83 AD NM_002282 exon6 c.3050-14T>C 0.717851 0.6776 0.731047 0.6663 0.6636 Uncertain 12_52711549_G->A 12 52711549 52711549 G A snp 802.77 0/1 99 48 19 29 0.6 exonic rs2857667 KRT83 AD synonymous SNV NM_002282 exon4 c.C666T p.C222C 0.376198 0.1885 0.441642 0.3833 0.2026 Uncertain 12_52711624_C->T 12 52711624 52711624 C T snp 905.77 0/1 99 81 38 43 0.53 intronic rs2857666 KRT83 AD NM_002282 exon6 c.3146+64C>T 0.376597 0.1885 0.435173 Uncertain 12_52711776_G->A 12 52711776 52711776 G A snp 900.77 0/1 99 88 45 43 0.49 intronic rs2852459 KRT83 AD NM_002282 exon7 c.3340+22G>A 0.376198 0.1885 0.436798 0.3831 0.2025 Uncertain 12_52712898_A->G 12 52712898 52712898 A G snp 152.77 0/1 99 11 5 6 0.55 intronic rs2187512 KRT83 AD NM_002282 exon8 c.4525-41A>G 0.349241 0.1677 0.402430 0.3407 0.1863 Uncertain 12_52712975_G->A 12 52712975 52712975 G A snp 461.77 0/1 99 31 15 16 0.52 exonic rs3741715 KRT83 AD synonymous SNV NM_002282 exon2 c.C558T p.N186N 0.36262 0.506 0.319314 0.3231 0.4773 CLINSIG=untested;CLNDBN=not_provided;CLNREVSTAT=no_assertion_provided;CLNACC=RCV000056955.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Uncertain 12_52713088_G->A 12 52713088 52713088 G A snp 1121.77 0/1 99 93 44 49 0.53 exonic rs2857663 KRT83 AD nonsynonymous SNV NM_002282 exon2 c.C445T p.R149C 0.127796 0.0804 0.123558 0.1190 0.0803 0.01 T 1.000 D -0.757 T 0.067 T 0.077 T Pathogenic 12_52713200_A->- 12 52713200 52713200 A - indel 892.73 0/1 99 58 28 30 0.52 intronic rs11290512 KRT83 AD NM_002282 exon8 c.4734+52delA 0.348842 0.1677 0.403914 0.3398 0.1847 Uncertain 12_52713218_C->T 12 52713218 52713218 C T snp 452.77 0/1 99 47 27 20 0.43 intronic rs10876276 KRT83 AD NM_002282 exon8 c.4734+70C>T 0.177316 0.4355 Uncertain 12_52755097_A->T 12 52755097 52755097 A T snp 845.77 1/1 63 22 0 22 1.0 intronic rs1791627 KRT85 AR NM_002283 exon2 c.614-153A>T 0.616214 0.6359 Uncertain 12_52755341_T->C 12 52755341 52755341 T C snp 1519.77 0/1 99 106 45 61 0.58 intronic rs2298796 KRT85 AR NM_002283 exon2 c.646+59T>C 0.21266 0.5198 0.149803 Uncertain 12_52758994_G->C 12 52758994 52758994 G C snp 459.77 0/1 99 48 27 21 0.44 intronic rs2298795 KRT85 AR NM_002283 exon8 c.4318+40G>C 0.177716 0.4375 0.089588 0.1505 0.4333 Uncertain 12_52774235_A->G 12 52774235 52774235 A G snp 3187.75 1/1 99 122 2 120 0.98 exonic rs951773 KRT84 AU nonsynonymous SNV NM_033045 exon7 c.T1336C p.C446R 0.826478 0.746 0.814316 0.7876 0.7664 1 T 0.974 P -0.956 T 0.0 T 0.0 T Pathogenic 12_52775431_A->G 12 52775431 52775431 A G snp 607.77 0/1 99 28 10 18 0.64 intronic rs2271084 KRT84 AU NM_033045 exon5 c.3492+122A>G 0.157548 0.4821 Uncertain 12_52776143_C->T 12 52776143 52776143 C T snp 555.77 0/1 99 40 19 21 0.53 intronic rs2271085 KRT84 AU NM_033045 exon6 c.4403-77C>T 0.157548 0.4821 Uncertain 12_52776679_A->G 12 52776679 52776679 A G snp 314.78 1/1 24 10 0 10 1.0 intronic rs1732297 KRT84 AU NM_033045 exon7 c.4971-109A>G 0.825679 0.7421 Uncertain 12_52777502_A->G 12 52777502 52777502 A G snp 681.77 0/1 99 86 52 34 0.4 exonic rs1945297 KRT84 AU synonymous SNV NM_033045 exon2 c.T627C p.N209N 0.496206 0.6776 0.378056 0.3625 0.6894 Uncertain 12_52778772_C->T 12 52778772 52778772 C T snp 348.78 1/1 27 14 0 14 1.0 intronic rs1732303 KRT84 AU NM_033045 exon9 c.7006-51C>T 0.826278 0.7421 0.806592 Uncertain 12_52788645_G->A 12 52788645 52788645 G A snp 103.77 0/1 99 8 4 4 0.5 UTR3 rs3741732 KRT82 AU 0.0341454 0.1617 Uncertain 12_52788928_G->A 12 52788928 52788928 G A snp 1676.77 0/1 99 138 63 75 0.54 exonic rs2658658 KRT82 AU nonsynonymous SNV NM_033033 exon9 c.C1373T p.T458M 0.338658 0.0645 0.438951 0.4221 0.0760 0.01 T 0.000 P -0.973 T 0.999 D 0.854 D Pathogenic 12_52789509_T->C 12 52789509 52789509 T C snp 852.77 1/1 63 30 0 30 1.0 intronic rs1732264 KRT82 AU NM_033033 exon2 c.784-33T>C 0.825679 0.7421 0.812779 0.7842 0.7626 Uncertain 12_52789597_A->G 12 52789597 52789597 A G snp 1557.77 1/1 99 60 0 60 1.0 intronic rs1732265 KRT82 AU NM_033033 exon2 c.816+23A>G 0.826677 0.7421 0.814855 0.7827 0.7581 Uncertain 12_52789605_T->A 12 52789605 52789605 T A snp 1554.77 1/1 99 60 0 60 1.0 intronic rs1732266 KRT82 AU NM_033033 exon2 c.816+31T>A 0.826677 0.7421 0.815085 0.7821 0.7576 Uncertain 12_52789691_A->C 12 52789691 52789691 A C snp 1167.77 1/1 84 43 0 43 1.0 intronic rs34479712 KRT82 AU NM_033033 exon3 c.1037-104A>C 0.548123 0.5486 Uncertain 12_52789694_T->- 12 52789694 52789694 T - indel 1780.73 1/1 99 41 0 41 1.0 intronic rs11304728 KRT82 AU NM_033033 exon3 c.1037-101delT 0.548922 0.5496 Uncertain 12_52790899_T->C 12 52790899 52790899 T C snp 2672.77 1/1 99 92 0 92 1.0 intronic rs1791635 KRT82 AU NM_033033 exon4 c.2034+107T>C 0.825879 0.7431 Uncertain 12_52790940_C->T 12 52790940 52790940 C T snp 528.77 0/1 99 47 26 21 0.45 intronic rs2249384 KRT82 AU NM_033033 exon4 c.2034+148C>T 0.333466 0.0645 Uncertain 12_52818504_T->G 12 52818504 52818504 T G snp 2515.77 0/1 99 211 107 104 0.49 exonic rs298104 KRT75 AU nonsynonymous SNV NM_004693 exon9 c.A1453C p.S485R 0.642372 0.6806 0.643857 0.6333 0.6927 0.29 T 0.0 P -0.993 T 0.61 T 0.137 P Pathogenic 12_52822258_A->G 12 52822258 52822258 A G snp 2549.77 0/1 99 250 144 106 0.42 exonic rs401926 KRT75 AU synonymous SNV NM_004693 exon7 c.T1164C p.C388C 0.61262 0.6796 0.605490 0.5925 0.6979 Uncertain 12_52824302_C->A 12 52824302 52824302 C A snp 267.77 0/1 99 13 5 8 0.62 intronic rs423949 KRT75 AU NM_004693 exon5 c.6024-22C>A 0.612819 0.6825 0.604952 0.5913 0.6953 Uncertain 12_52824352_G->A 12 52824352 52824352 G A snp 968.77 0/1 99 64 28 36 0.56 exonic rs395623 KRT75 AU synonymous SNV NM_004693 exon5 c.C1008T p.A336A 0.242412 0.4494 0.272490 0.3137 0.4731 Uncertain 12_52824562_T->A 12 52824562 52824562 T A snp 1327.77 0/1 99 113 62 51 0.45 intronic rs443084 KRT75 AU NM_004693 exon5 c.6189+73T>A 0.612819 0.6825 Uncertain 12_52825363_G->A 12 52825363 52825363 G A snp 986.77 0/1 99 92 47 45 0.49 exonic rs1798640 KRT75 AU synonymous SNV NM_004693 exon4 c.C834T p.P278P 0.613019 0.6825 0.605259 0.5913 0.6947 Uncertain 12_52827534_C->T 12 52827534 52827534 C T snp 424.77 0/1 99 58 35 23 0.4 intronic rs67876 KRT75 AU NM_004693 exon9 c.9290-56C>T 0.612819 0.6825 Uncertain 12_52827818_T->C 12 52827818 52827818 T C snp 1686.77 0/1 99 172 102 70 0.41 exonic rs298109 KRT75 AU nonsynonymous SNV NM_004693 exon1 c.A271G p.R91G 0.612819 0.6825 0.605105 0.5913 0.6957 1 T 0.000 P -0.913 T 0.0 T 0.0 T ID=CM131325;DIS=Respiratory disease, aspirin-exacerbated, reduced risk;TAG=DP;PUB=23180272 DP Pathogenic 12_52841765_G->A 12 52841765 52841765 G A snp 1427.77 0/1 99 139 77 62 0.45 exonic rs388626 KRT6B AU synonymous SNV NM_005555 exon7 c.C1221T p.A407A 0.517572 0.6825 0.477164 0.4939 0.6953 Uncertain 12_52842736_T->C 12 52842736 52842736 T C snp 1291.77 0/1 99 114 73 41 0.36 exonic rs437014 KRT6B AU nonsynonymous SNV NM_005555 exon6 c.A1093G p.I365V 0.4672 0.6603 1 T 0.0 P -0.941 T 0.009 T 0.017 T Pathogenic 12_52843666_G->A 12 52843666 52843666 G A snp 258.77 0/1 99 15 7 8 0.53 intronic rs673602 KRT6B AU NM_005555 exon6 c.2664+29G>A 0.619609 0.6845 0.534835 0.5913 0.6946 Uncertain 12_52843688_T->C 12 52843688 52843688 T C snp 82.77 0/1 28 4 1 3 0.75 intronic rs639374 KRT6B AU NM_005555 exon6 c.2664+51T>C 0.218668 0.2603 0.3751 Uncertain 12_52844016_T->C 12 52844016 52844016 T C snp 983.77 0/1 99 57 26 31 0.54 intronic rs4024141 KRT6B AU NM_005555 exon7 c.2883+160T>C Uncertain 12_52844246_A->G 12 52844246 52844246 A G snp 74.77 0/1 99 248 215 33 0.13 exonic rs28542657 KRT6B AU synonymous SNV NM_005555 exon2 c.T699C p.G233G 0.0786741 0.1875 0.0655 0.0983 Uncertain 12_52844265_T->C 12 52844265 52844265 T C snp 1882.77 0/1 99 248 160 88 0.35 exonic rs3194286 KRT6B AU nonsynonymous SNV NM_005555 exon2 c.A680G p.N227S 0.313163 0.2915 0.4034 1 T 0.0 P -1.068 T 0.025 T 0.03 T Pathogenic 12_52844378_C->G 12 52844378 52844378 C G snp 518.77 0/1 99 191 164 27 0.14 exonic rs150221772 KRT6B AU nonsynonymous SNV NM_005555 exon2 c.G567C p.K189N 0.0263578 0.123 0.000308 0.0099 0.1293 0 D 0.973 D -0.423 T 0.999 D 0.987 D Pathogenic 12_52844477_-->C 12 52844477 52844477 - C indel 1120.73 0/1 99 83 51 32 0.39 intronic rs5798212 KRT6B AU NM_005555 exon8 c.3431+73insC 0.202276 0.3532 Uncertain 12_52845801_T->C 12 52845801 52845801 T C snp 535.77 0/1 99 48 24 24 0.5 exonic rs428894 KRT6B AU nonsynonymous SNV NM_005555 exon1 c.A62G p.N21S 0.5208 0.6469 0.62 T 0.000 P -0.936 T 0.0 T 0.0 T Pathogenic 12_52862767_G->C 12 52862767 52862767 G C snp 426.77 0/1 99 26 9 17 0.65 UTR3 rs2567 KRT6C AD 0.2502 0.4812 Uncertain 12_52862770_T->C 12 52862770 52862770 T C snp 489.77 0/1 99 30 10 20 0.67 UTR3 rs1053796 KRT6C AD 0.485224 0.6369 Uncertain 12_52862783_G->A 12 52862783 52862783 G A snp 521.77 0/1 99 33 13 20 0.61 UTR3 rs2568 KRT6C AD 0.2502 0.4812 Uncertain 12_52863038_G->A 12 52863038 52863038 G A snp 2090.77 0/1 99 170 76 94 0.55 exonic rs410562 KRT6C AD synonymous SNV NM_173086 exon9 c.C1503T p.S501S 0.2502 0.4812 0.266339 0.3127 0.5006 Uncertain 12_52863213_C->T 12 52863213 52863213 C T snp 1407.77 0/1 99 147 89 58 0.39 exonic rs412533 KRT6C AD nonsynonymous SNV NM_173086 exon8 c.G1441A p.V481I 0.249601 0.4812 0.267492 0.3149 0.5051 0.17 T 0.021 P -0.943 T 0.824 T 0.08 P Pathogenic 12_52863621_T->G 12 52863621 52863621 T G snp 1969.77 0/1 99 167 65 102 0.61 exonic rs382367 KRT6C AD synonymous SNV NM_173086 exon7 c.A1257C p.A419A 0.486022 0.6369 0.478161 0.5413 0.6570 Uncertain 12_52863709_C->T 12 52863709 52863709 C T snp 1102.77 0/1 99 76 32 44 0.58 intronic rs452600 KRT6C AD NM_173086 exon3 c.829+35C>T 0.2502 0.4812 0.267261 0.3271 0.5227 Uncertain 12_52863732_C->T 12 52863732 52863732 C T snp 815.77 0/1 99 60 23 37 0.62 intronic rs434339 KRT6C AD NM_173086 exon3 c.829+58C>T 0.2502 0.4812 Uncertain 12_52864240_G->T 12 52864240 52864240 G T snp 4023.77 0/1 99 250 110 140 0.56 intronic rs415580 KRT6C AD NM_173086 exon4 c.1443-48G>T 0.2502 0.4812 0.267338 0.3153 0.5059 Uncertain 12_52864756_C->G 12 52864756 52864756 C G snp 163.77 0/1 99 14 8 6 0.43 intronic rs613760 KRT6C AD NM_173086 exon5 c.2070-159C>G 0.286741 0.4821 Uncertain 12_52864843_G->A 12 52864843 52864843 G A snp 1676.77 0/1 99 106 44 62 0.58 intronic rs604303 KRT6C AD NM_173086 exon5 c.2070-72G>A 0.249401 0.4772 Uncertain 12_52865141_C->T 12 52865141 52865141 C T snp 3227.04 0/1 99 250 128 122 0.49 intronic rs79490935 KRT6C AD NM_173086 exon5 c.2235+61C>T 0.0349441 0.1637 Uncertain 12_52865389_G->C 12 52865389 52865389 G C snp 251.77 0/1 99 15 7 8 0.53 intronic rs664605 KRT6C AD NM_173086 exon7 c.2610-66G>C 0.216054 0.4345 Uncertain 12_52865393_C->T 12 52865393 52865393 C T snp 358.77 0/1 99 23 10 13 0.57 intronic rs602005 KRT6C AD NM_173086 exon7 c.2610-62C>T 0.216054 0.4345 Uncertain 12_52865548_G->C 12 52865548 52865548 G C snp 2159.77 0/1 99 247 144 103 0.42 intronic rs28759265 KRT6C AD NM_173086 exon7 c.2671+32G>C 0.2498 0.4812 0.267492 0.3153 0.5059 Uncertain 12_52865592_A->T 12 52865592 52865592 A T snp 1860.77 0/1 99 202 118 84 0.42 intronic rs644414 KRT6C AD NM_173086 exon7 c.2671+76A>T 0.250799 0.4812 Uncertain 12_52865687_C->T 12 52865687 52865687 C T snp 291.77 0/1 99 24 10 14 0.58 intronic rs391567 KRT6C AD NM_173086 exon8 c.3004-162C>T 0.591853 0.6845 Uncertain 12_52866060_C->T 12 52866060 52866060 C T snp 1434.77 1/1 99 56 0 56 1.0 exonic rs11608915 KRT6C AD nonsynonymous SNV NM_173086 exon2 c.G545A p.R182Q 0.400559 0.506 0.409675 0.5144 0.6160 0.03 T 0.998 P -1.273 T 0.998 D 0.899 D Pathogenic 12_52881376_C->T 12 52881376 52881376 C T snp 37.77 0/1 66 9 6 3 0.33 UTR3 rs1053857 KRT6A AU 0.585064 0.6865 Uncertain 12_52881380_A->C 12 52881380 52881380 A C snp 40.77 0/1 69 9 6 3 0.33 UTR3 rs1053854 KRT6A AU 0.585064 0.6865 Uncertain 12_52881428_A->C 12 52881428 52881428 A C snp 367.77 0/1 99 27 12 15 0.56 UTR3 rs28667515 KRT6A AU 0.585064 0.6865 Uncertain 12_52882410_-->GAA 12 52882410 52882410 - GAA indel 2160.73 1/1 99 45 0 45 1.0 intronic rs144849815 KRT6A AU NM_005554 exon3 c.829+78insGAA 0.983626 1 Uncertain 12_52884283_A->G 12 52884283 52884283 A G snp 1266.77 0/1 99 93 38 55 0.59 intronic rs298119 KRT6A AU NM_005554 exon5 c.2849-69A>G 0.599241 0.6875 Uncertain 12_52884557_T->C 12 52884557 52884557 T C snp 3515.77 0/1 99 250 132 118 0.47 intronic rs298120 KRT6A AU NM_005554 exon5 c.3014+40T>C 0.611621 0.6875 0.592496 0.5871 0.6991 Uncertain 12_52885019_C->T 12 52885019 52885019 C T snp 3201.82 0/1 99 250 106 144 0.58 intronic rs298121 KRT6A AU NM_005554 exon7 c.3453+63C>T 0.250599 0.4841 Uncertain 12_52885190_C->T 12 52885190 52885190 C T snp 211.77 0/1 99 60 49 11 0.18 intronic rs541396127 KRT6A AU NM_005554 exon8 c.3802-115C>T 0.000199681 Uncertain 12_52885201_C->T 12 52885201 52885201 C T snp 1236.77 0/1 99 79 34 45 0.57 intronic rs298122 KRT6A AU NM_005554 exon8 c.3802-104C>T 0.250399 0.4841 Uncertain 12_52885222_A->C 12 52885222 52885222 A C snp 366.77 0/1 99 120 98 22 0.18 intronic KRT6A AU NM_005554 exon8 c.3802-83A>C Uncertain 12_52885223_T->C 12 52885223 52885223 T C snp 365.77 0/1 99 121 99 22 0.18 intronic KRT6A AU NM_005554 exon8 c.3802-82T>C Uncertain 12_52885227_C->A 12 52885227 52885227 C A snp 362.77 0/1 99 129 107 22 0.17 intronic KRT6A AU NM_005554 exon8 c.3802-78C>A Uncertain 12_52885229_C->A 12 52885229 52885229 C A snp 354.77 0/1 99 129 107 22 0.17 intronic KRT6A AU NM_005554 exon8 c.3802-76C>A Uncertain 12_52885231_T->A 12 52885231 52885231 T A snp 428.77 0/1 99 135 110 25 0.19 intronic KRT6A AU NM_005554 exon8 c.3802-74T>A Uncertain 12_52885316_A->G 12 52885316 52885316 A G snp 1031.77 0/1 99 248 188 60 0.24 exonic rs201142403 KRT6A AU nonsynonymous SNV NM_005554 exon2 c.T745C p.F249L 0.000308 0.0373 0.3292 0.09 T 0.615 D -1.076 T 0.116 T 0.12 T ID=COSM1739982;OCCURENCE=1(haematopoietic_and_lymphoid_tissue) Pathogenic 12_52885339_C->T 12 52885339 52885339 C T snp 799.77 0/1 99 229 184 45 0.2 exonic rs199613662 KRT6A AU nonsynonymous SNV NM_005554 exon2 c.G722A p.G241D 0.0103834 0.0476 0.0178 0.1825 0.01 T 1 N -0.488 T 0.012 T 0.036 T Pathogenic 12_52885340_C->T 12 52885340 52885340 C T snp 804.77 0/1 99 229 185 44 0.19 exonic rs201663666 KRT6A AU nonsynonymous SNV NM_005554 exon2 c.G721A p.G241S 0.0103834 0.0476 0.0178 0.1820 0.54 T 1 N -0.654 T 0.012 T 0.03 T Pathogenic 12_52885344_G->C 12 52885344 52885344 G C snp 804.77 0/1 99 229 185 44 0.19 exonic rs534124939 KRT6A AU synonymous SNV NM_005554 exon2 c.C717G p.L239L 0.0103834 0.0476 0.0176 0.1807 Uncertain 12_52885350_T->C 12 52885350 52885350 T C snp 819.77 0/1 99 220 177 43 0.2 exonic rs199531479 KRT6A AU synonymous SNV NM_005554 exon2 c.A711G p.S237S 0.0165 0.1688 Uncertain 12_52885374_G->C 12 52885374 52885374 G C snp 612.77 0/1 99 189 157 32 0.17 exonic rs201950477 KRT6A AU synonymous SNV NM_005554 exon2 c.C687G p.V229V 0.0031 0.0375 Uncertain 12_52885377_A->G 12 52885377 52885377 A G snp 523.77 0/1 99 183 153 30 0.16 exonic rs201568563 KRT6A AU synonymous SNV NM_005554 exon2 c.T684C p.I228I 0.0030 0.0359 Uncertain 12_52885381_C->T 12 52885381 52885381 C T snp 435.77 0/1 99 179 153 26 0.15 exonic rs200763387 KRT6A AU nonsynonymous SNV NM_005554 exon2 c.G680A p.S227N 0.0029 0.0353 0.31 T 1 N -0.553 T 0.097 T 0.036 T Pathogenic 12_52886478_T->C 12 52886478 52886478 T C snp 914.77 0/1 99 97 55 42 0.43 exonic rs376545 KRT6A AU synonymous SNV NM_005554 exon1 c.A495G p.E165E 0.361022 0.5397 0.345894 0.3564 0.5515 Uncertain 12_52886490_A->G 12 52886490 52886490 A G snp 1038.77 0/1 99 103 57 46 0.45 exonic rs711317 KRT6A AU synonymous SNV NM_005554 exon1 c.T483C p.A161A 0.449081 0.6319 0.452637 0.5303 0.6520 Uncertain 12_52914153_A->G 12 52914153 52914153 A G snp 100.77 0/1 99 17 12 5 0.29 UTR5 rs3741725 KRT5 AR,AD,AU 0.0700879 0.2827 Uncertain 12_52938364_T->C 12 52938364 52938364 T C snp 3825.77 1/1 99 146 0 146 1.0 exonic rs2292507 KRT71 AD synonymous SNV NM_033448 exon9 c.A1524G p.L508L 0.327276 0.5 0.374750 0.4416 0.5138 Uncertain 12_52938497_A->C 12 52938497 52938497 A C snp 2044.77 1/1 99 71 0 71 1.0 exonic rs10783518 KRT71 AD nonsynonymous SNV NM_033448 exon9 c.T1391G p.V464G 0.327276 0.5 0.350824 0.4448 0.5178 0.41 T 0.057 P -0.923 T 0.0 T 0.0 T Pathogenic 12_52938535_A->G 12 52938535 52938535 A G snp 1047.77 1/1 78 33 0 33 1.0 intronic rs10783519 KRT71 AD NM_033448 exon1 c.212+8A>G 0.351637 0.5258 0.383773 0.4828 0.5691 Uncertain 12_52939408_GAG->- 12 52939408 52939410 GAG - indel 4660.73 1/1 99 81 0 81 1.0 intronic rs10580903 KRT71 AD NM_033448 exon2 c.1068+25_1068+27delGAG 0.326677 0.5 0.376198 0.4418 0.5068 Uncertain 12_52939994_T->C 12 52939994 52939994 T C snp 1809.77 1/1 99 60 0 60 1.0 intronic rs11170171 KRT71 AD NM_033448 exon3 c.1754-75T>C 0.326877 0.5 Uncertain 12_52941785_AG->- 12 52941785 52941786 AG - indel 5219.73 1/1 99 109 0 109 1.0 intronic rs3839975 KRT71 AD NM_033448 exon4 c.3451+19_3451+20delAG 0.326877 0.499 0.376677 0.4420 0.5108 Uncertain 12_52942235_G->T 12 52942235 52942235 G T snp 985.77 1/1 38 27 1 26 0.96 intronic rs12308719 KRT71 AD NM_033448 exon5 c.3785+135G>T 0.327077 0.499 Uncertain 12_52942301_C->T 12 52942301 52942301 C T snp 294.78 1/1 24 8 0 8 1.0 intronic rs10876309 KRT71 AD NM_033448 exon6 c.4169-183C>T 0.327077 0.499 Uncertain 12_52942627_A->G 12 52942627 52942627 A G snp 1652.77 1/1 99 50 0 50 1.0 intronic rs3803084 KRT71 AD NM_033448 exon6 c.4265+47A>G 0.127396 0.4821 0.003152 0.0722 0.5047 Uncertain 12_52942694_C->T 12 52942694 52942694 C T snp 505.77 1/1 39 13 0 13 1.0 intronic rs3803085 KRT71 AD NM_033448 exon6 c.4265+114C>T 0.326877 0.499 Uncertain 12_52942998_C->T 12 52942998 52942998 C T snp 227.84 1/1 18 8 0 8 1.0 intronic rs635206 KRT71 AD NM_033448 exon7 c.4761-78C>T 0.993411 1 Uncertain 12_52943144_G->A 12 52943144 52943144 G A snp 1789.77 1/1 99 68 0 68 1.0 intronic rs4761930 KRT71 AD NM_033448 exon7 c.4822+7G>A 0.326877 0.499 0.374443 0.4416 0.5143 Uncertain 12_52944060_T->C 12 52944060 52944060 T C snp 1087.77 1/1 78 36 1 35 0.97 intronic rs10747643 KRT71 AD NM_033448 exon8 c.5712+33T>C 0.571885 0.8085 0.509611 0.5990 0.8151 Uncertain 12_52963169_C->A 12 52963169 52963169 C A snp 49.77 0/1 33 4 1 3 0.75 intronic rs7972909 KRT74 AR,AD,AU NM_175053 exon4 c.2890-473C>A 0.121206 0.1091 Uncertain 12_52964402_C->A 12 52964402 52964402 C A snp 59.77 0/1 88 10 7 3 0.3 intronic rs608690 KRT74 AR,AD,AU NM_175053 exon5 c.3700-50C>A 0.195487 0.1617 0.207212 0.1965 0.1696 Uncertain 12_52964417_A->G 12 52964417 52964417 A G snp 877.77 1/1 66 25 0 25 1.0 intronic rs657102 KRT74 AR,AD,AU NM_175053 exon5 c.3700-35A>G 0.819888 0.7173 0.828541 0.7620 0.7174 Uncertain 12_52964718_G->A 12 52964718 52964718 G A snp 2540.77 1/1 99 78 0 78 1.0 intronic rs597048 KRT74 AR,AD,AU NM_175053 exon5 c.3865+101G>A 0.417732 0.5377 Uncertain 12_52964924_C->T 12 52964924 52964924 C T snp 174.9 1/1 15 5 0 5 1.0 intronic rs653189 KRT74 AR,AD,AU NM_175053 exon6 c.4390-218C>T 0.427915 0.5377 Uncertain 12_52964934_T->G 12 52964934 52964934 T G snp 220.84 1/1 18 6 0 6 1.0 intronic rs669865 KRT74 AR,AD,AU NM_175053 exon6 c.4390-208T>G 0.807109 0.7173 Uncertain 12_52965173_T->G 12 52965173 52965173 T G snp 3254.77 1/1 99 127 0 127 1.0 exonic rs670741 KRT74 AR,AD,AU nonsynonymous SNV NM_175053 exon4 c.A813C p.E271D 0.807308 0.7173 0.818545 0.7449 0.7180 0.08 T 0.000 P -0.953 T 0.0 T 0.007 T Pathogenic 12_52965722_T->C 12 52965722 52965722 T C snp 3260.77 1/1 99 118 0 118 1.0 splicing rs673363 KRT74 AR,AD,AU NM_175053 exon7 c.4975-5T>C 0.807508 0.7173 0.818468 0.7447 0.7175 Pathogenic 12_52965761_C->T 12 52965761 52965761 C T snp 3524.77 1/1 99 131 0 131 1.0 exonic rs673449 KRT74 AR,AD,AU synonymous SNV NM_175053 exon3 c.G714A p.T238T 0.891573 0.995 0.821390 0.8006 0.9964 Uncertain 12_52965782_T->C 12 52965782 52965782 T C snp 3268.77 1/1 99 121 0 121 1.0 exonic rs673476 KRT74 AR,AD,AU synonymous SNV NM_175053 exon3 c.A693G p.E231E 0.807109 0.7173 0.818238 0.7447 0.7177 Uncertain 12_52965877_T->G 12 52965877 52965877 T G snp 340.77 0/1 99 33 21 12 0.36 intronic rs11170175 KRT74 AR,AD,AU NM_175053 exon7 c.5036+89T>G 0.115815 0.1111 Uncertain 12_52966047_C->T 12 52966047 52966047 C T snp 294.78 1/1 24 8 0 8 1.0 intronic rs671629 KRT74 AR,AD,AU NM_175053 exon8 c.5484-189C>T 0.807308 0.7173 Uncertain 12_52966137_T->A 12 52966137 52966137 T A snp 1190.77 1/1 87 41 0 41 1.0 intronic rs685720 KRT74 AR,AD,AU NM_175053 exon8 c.5484-99T>A 0.807508 0.7173 Uncertain 12_52966145_C->- 12 52966145 52966145 C - indel 787.73 0/1 99 45 20 25 0.56 intronic rs34211466 KRT74 AR,AD,AU NM_175053 exon8 c.5484-91delC 0.221046 0.376 Uncertain 12_52966390_A->T 12 52966390 52966390 A T snp 1534.77 0/1 99 138 74 64 0.46 exonic rs11170176 KRT74 AR,AD,AU nonsynonymous SNV NM_175053 exon2 c.T533A p.L178Q 0.221246 0.376 0.175457 0.1541 0.3563 1 T 0.845 P -0.903 T 0.722 T 0.517 P Pathogenic 12_52966428_G->C 12 52966428 52966428 G C snp 1453.77 0/1 99 152 87 65 0.43 exonic rs11170177 KRT74 AR,AD,AU nonsynonymous SNV NM_175053 exon2 c.C495G p.N165K 0.0976438 0.3175 0.040904 0.0693 0.3022 0 D 1.000 P -1.859 T 1.0 D 1.0 D Pathogenic 12_52966512_C->A 12 52966512 52966512 C A snp 1481.77 0/1 99 103 42 61 0.59 intronic rs687127 KRT74 AR,AD,AU NM_175053 exon8 c.5699+61C>A 0.195687 0.1617 Uncertain 12_52967080_A->G 12 52967080 52967080 A G snp 963.77 0/1 99 65 26 39 0.6 intronic rs6580887 KRT74 AR,AD,AU NM_175053 exon9 c.6338-10A>G 0.115815 0.1121 0.161080 0.1397 0.1263 Uncertain 12_52979741_G->T 12 52979741 52979741 G T snp 2301.77 1/1 99 77 0 77 1.0 splicing rs2292502 KRT72 AU NM_080747 exon1 c.191-215G>T 0.199081 0.501 0.130324 0.1563 0.5110 Pathogenic 12_52980078_T->C 12 52980078 52980078 T C snp 160.78 0/1 24 6 1 5 0.83 intronic rs17116392 KRT72 AU NM_080747 exon1 c.191+122T>C 0.376797 0.5665 Uncertain 12_52984529_G->A 12 52984529 52984529 G A snp 233.77 0/1 99 14 6 8 0.57 intronic rs57500017 KRT72 AU NM_080747 exon4 c.4854-90G>A 0.0121805 0.0565 Uncertain 12_52985293_A->G 12 52985293 52985293 A G snp 2760.77 1/1 99 92 0 92 1.0 exonic rs12824366 KRT72 AU synonymous SNV NM_001146225 exon5 c.T918C p.I306I 0.372404 0.5655 0.339612 0.3870 0.6036 Uncertain 12_52986132_T->A 12 52986132 52986132 T A snp 2083.77 1/1 99 81 0 81 1.0 intronic rs617820 KRT72 AU NM_080747 exon6 c.6414-47T>A 0.885982 0.995 0.821159 0.7984 0.9969 Uncertain 12_52986187_T->C 12 52986187 52986187 T C snp 2642.77 1/1 99 98 0 98 1.0 exonic rs12833456 KRT72 AU nonsynonymous SNV NM_001146225 exon4 c.A791G p.Y264C 0.372804 0.5675 0.339766 0.3870 0.6037 0.01 T 0.024 P -1.035 T 0.013 T 0.098 T Pathogenic 12_52992812_T->C 12 52992812 52992812 T C snp 3624.77 1/1 99 129 0 129 1.0 exonic rs11170187 KRT72 AU nonsynonymous SNV NM_001146225 exon2 c.A511G p.N171D 0.372204 0.5655 0.339920 0.3869 0.6043 0.03 T 1.000 P -0.965 T 0.012 T 0.042 T Pathogenic 12_52993350_C->A 12 52993350 52993350 C A snp 56.74 1/1 6 2 0 2 1.0 intronic rs7973012 KRT72 AU NM_080747 exon8 c.13131+454C>A 0.372204 0.5655 Uncertain 12_52994955_G->A 12 52994955 52994955 G A snp 5298.77 1/1 99 201 0 201 1.0 exonic rs61747192 KRT72 AU synonymous SNV NM_001146225 exon1 c.C282T p.P94P 0.17492 0.4444 0.121944 0.1464 0.4595 0.999 P -1.006 T Likely benign 12_53002956_T->C 12 53002956 53002956 T C snp 1731.77 1/1 99 64 1 63 0.98 intronic rs591636 KRT73 AU NM_175068 exon2 c.1051-74T>C 0.817692 0.7808 0.813184 Uncertain 12_53004319_T->C 12 53004319 53004319 T C snp 67.77 0/1 30 9 5 4 0.44 ncRNA_exonic KRT73-AS1 AU Uncertain 12_53004327_G->C 12 53004327 53004327 G C snp 33.77 0/1 62 12 7 5 0.42 ncRNA_exonic KRT73-AS1 AU Uncertain 12_53004694_T->C 12 53004694 53004694 T C snp 2789.77 1/1 99 89 0 89 1.0 ncRNA_exonic rs9739031 KRT73-AS1 AU 0.20627 0.5169 Uncertain 12_53011955_G->A 12 53011955 53011955 G A snp 6976.77 1/1 99 250 1 249 1.0 exonic rs61736102 KRT73 AU synonymous SNV NM_175068 exon1 c.C354T p.N118N 0.200479 0.4454 0.150623 0.1647 0.4544 Uncertain 12_53045615_-->CCTCCAAAGCCGCTGCCG 12 53045615 53045615 - CCTCCAAAGCCGCTGCCG indel 2144.73 0/1 99 47 27 20 0.43 exonic rs532019270 KRT2 AD nonframeshift insertion NM_000423 exon1 c.311_312insCGGCAGCGGCTTTGGAGG p.G104delinsGGSGFGG 0.180711 0.3948 0.0091 0.0044 ID=COSM1362558;OCCURENCE=1(large_intestine) Uncertain 12_53045626_T->C 12 53045626 53045626 T C snp 2043.77 1/1 99 67 1 66 0.99 exonic rs2634041 KRT2 AD nonsynonymous SNV NM_000423 exon1 c.A301G p.S101G 0.375599 0.7589 0.266996 0.1036 0.1986 0.68 T 0.0 P -0.940 T 0.0 T 0.0 T Pathogenic 12_53068882_C->T 12 53068882 53068882 C T snp 81.77 0/1 30 4 1 3 0.75 UTR3 rs144520865 KRT1 AU,AD 0.00159744 0.0079 Uncertain 12_53069014_T->C 12 53069014 53069014 T C snp 837.77 0/1 99 86 48 38 0.44 exonic rs14024 KRT1 AU,AD nonsynonymous SNV NM_006121 exon9 c.A1898G p.K633R 0.275559 0.5784 0.223358 0.3051 0.5945 1 T 0.016 P -0.944 T 0.331 T 0.078 T Pathogenic 12_53069223_ACCTCCGGAGCCGTAGCTGCT->- 12 53069223 53069243 ACCTCCGGAGCCGTAGCTGCT - indel 3512.73 0/1 99 60 32 28 0.47 exonic rs267607656 KRT1 AU,AD nonframeshift deletion NM_006121 exon9 c.1669_1689del p.557_563del 0.355232 0.1349 0.414819 0.4647 0.2867 CLINSIG=untested;CLNDBN=not_provided;CLNREVSTAT=no_assertion_provided;CLNACC=RCV000057077.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 ID=COSM1362564;OCCURENCE=3(large_intestine),1(breast) Uncertain 12_53070121_T->G 12 53070121 53070121 T G snp 4708.77 1/1 99 168 0 168 1.0 exonic rs698170 KRT1 AU,AD synonymous SNV NM_006121 exon7 c.A1413C p.T471T 0.801118 0.8284 0.806858 0.8073 0.8378 CLINSIG=untested;CLNDBN=not_provided;CLNREVSTAT=no_assertion_provided;CLNACC=RCV000057058.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Uncertain 12_53070145_G->A 12 53070145 53070145 G A snp 2763.77 0/1 99 185 68 117 0.63 exonic rs936958 KRT1 AU,AD synonymous SNV NM_006121 exon7 c.C1389T p.R463R 0.425519 0.2411 0.470091 0.4434 0.2363 CLINSIG=untested;CLNDBN=not_provided;CLNREVSTAT=no_assertion_provided;CLNACC=RCV000057057.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Uncertain 12_53070688_G->A 12 53070688 53070688 G A snp 189.77 0/1 91 9 3 6 0.67 intronic rs597685 KRT1 AU,AD NM_006121 exon4 c.1866-154G>A 0.36901 0.5863 Uncertain 12_53071338_A->G 12 53071338 53071338 A G snp 2318.77 1/1 99 79 0 79 1.0 intronic rs626480 KRT1 AU,AD NM_006121 exon5 c.2288+74A>G 0.997204 1 Uncertain 12_53071560_A->G 12 53071560 53071560 A G snp 1166.77 0/1 99 80 33 47 0.59 intronic rs2741158 KRT1 AU,AD NM_006121 exon6 c.2553+31A>G 0.425519 0.2411 0.470091 0.4440 0.2369 CLINSIG=untested;CLNDBN=not_provided;CLNREVSTAT=no_assertion_provided;CLNACC=RCV000057108.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Uncertain 12_53073471_-->A 12 53073471 53073471 - A indel 1135.73 0/1 99 63 33 30 0.48 intronic rs3837476 KRT1 AU,AD NM_006121 exon9 c.4565-70insA 0.43151 0.2411 Uncertain 12_53084872_C->T 12 53084872 53084872 C T snp 942.77 0/1 99 104 62 42 0.4 UTR3 rs643027 KRT77 AU 0.374601 0.5794 Uncertain 12_53085089_T->C 12 53085089 53085089 T C snp 2437.77 1/1 99 81 0 81 1.0 exonic rs636127 KRT77 AU nonsynonymous SNV NM_175078 exon9 c.A1597G p.R533G 0.933307 1 0.917735 0.9627 0.9998 0.63 T 0.0 P -1.008 T 0.0 T 0.0 T Pathogenic 12_53085262_C->A 12 53085262 53085262 C A snp 358.77 0/1 99 43 27 16 0.37 intronic rs2684339 KRT77 AU NM_175078 exon1 c.275+39C>A 0.377196 0.5923 0.331077 0.3741 0.6081 Uncertain 12_53086645_G->A 12 53086645 53086645 G A snp 2928.77 0/1 99 233 110 123 0.53 exonic rs3782489 KRT77 AU nonsynonymous SNV NM_175078 exon6 c.C1100T p.T367M 0.379393 0.245 0.386297 0.3699 0.2353 0.01 T 0.0 P -1.245 T 0.999 D 0.964 D Pathogenic 12_53088484_C->T 12 53088484 53088484 C T snp 1835.77 0/1 99 161 83 78 0.48 exonic rs10783528 KRT77 AU nonsynonymous SNV NM_175078 exon5 c.G1006A p.D336N 0.318291 0.5813 0.291635 0.3395 0.5948 0.02 T 0.0 P -0.918 T 0.382 T 0.039 T Pathogenic 12_53089461_ACCC->- 12 53089461 53089464 ACCC - indel 1622.73 1/1 66 22 0 22 1.0 intronic rs5798218 KRT77 AU NM_175078 exon6 c.4607-94_4607-91delACCC 0.946086 1 Uncertain 12_53090068_G->A 12 53090068 53090068 G A snp 265.77 0/1 99 20 9 11 0.55 intronic rs588706 KRT77 AU NM_175078 exon7 c.5205-85G>A 0.382588 0.5873 Uncertain 12_53090190_C->T 12 53090190 53090190 C T snp 900.77 0/1 99 76 35 41 0.54 exonic rs7138818 KRT77 AU synonymous SNV NM_175078 exon3 c.G783A p.R261R 0.406949 0.25 0.431493 0.4078 0.2483 Uncertain 12_53091365_G->A 12 53091365 53091365 G A snp 152.77 0/1 99 18 10 8 0.44 intronic rs188433523 KRT77 AU NM_175078 exon8 c.6517-100G>A Uncertain 12_53091566_C->A 12 53091566 53091566 C A snp 1882.77 0/1 99 204 126 78 0.38 exonic rs1567759 KRT77 AU nonsynonymous SNV NM_175078 exon2 c.G658T p.G220C 0.40655 0.246 0.431570 0.4080 0.2464 0.05 T 0.033 P -1.048 T 0.999 D 0.976 D Pathogenic 12_53096913_G->A 12 53096913 53096913 G A snp 3994.77 1/1 99 138 0 138 1.0 exonic rs1625862 KRT77 AU synonymous SNV NM_175078 exon1 c.C306T p.T102T 0.973442 1 0.966861 0.9907 1 Uncertain 12_53162638_G->A 12 53162638 53162638 G A snp 1789.77 0/1 99 169 99 70 0.41 exonic rs2280479 KRT76 AU synonymous SNV NM_015848 exon9 c.C1776T p.S592S 0.160343 0.3502 0.059742 0.1032 0.3653 Uncertain 12_53162773_A->G 12 53162773 53162773 A G snp 3263.77 1/1 99 111 0 111 1.0 exonic rs1464423 KRT76 AU synonymous SNV NM_015848 exon9 c.T1641C p.S547S 0.779752 0.9028 0.799083 0.8054 0.9099 Uncertain 12_53164848_G->A 12 53164848 53164848 G A snp 1331.77 0/1 99 133 77 56 0.42 exonic rs7313832 KRT76 AU synonymous SNV NM_015848 exon7 c.C1419T p.N473N 0.417133 0.3919 0.493618 0.4955 0.3972 Uncertain 12_53165940_C->T 12 53165940 53165940 C T snp 3269.77 0/1 99 249 124 125 0.5 exonic rs6580904 KRT76 AU nonsynonymous SNV NM_015848 exon5 c.G1075A p.A359T 0.600839 0.5516 0.706981 0.7306 0.5317 0.03 T 0.988 P -0.925 T 0.986 D 0.771 D Pathogenic 12_53166192_G->A 12 53166192 53166192 G A snp 383.77 0/1 99 21 8 13 0.62 intronic rs6580905 KRT76 AU NM_015848 exon5 c.3546+150G>A 0.417133 0.3919 Uncertain 12_53167313_T->C 12 53167313 53167313 T C snp 479.77 0/1 99 45 25 20 0.44 intronic rs7399317 KRT76 AU NM_015848 exon7 c.4869-52T>C 0.866813 0.6508 0.979194 Uncertain 12_53184725_G->A 12 53184725 53184725 G A snp 1338.77 0/1 99 90 35 55 0.61 intronic rs12312467 KRT3 AD NM_057088 exon2 c.831+69G>A 0.188099 0.5159 0.044678 Uncertain 12_53186122_G->A 12 53186122 53186122 G A snp 2955.77 1/1 99 111 0 111 1.0 exonic rs4432093 KRT3 AD synonymous SNV NM_057088 exon5 c.C1089T p.R363R 0.78774 0.9147 0.810626 0.7935 0.9203 Uncertain 12_53187150_C->T 12 53187150 53187150 C T snp 3902.77 1/1 99 140 0 140 1.0 intronic rs4919750 KRT3 AD NM_057088 exon7 c.3182+143C>T 0.826877 0.9147 Uncertain 12_53189414_CCAAAGCCACCAGCCCCT->- 12 53189414 53189431 CCAAAGCCACCAGCCCCT - indel 4637.73 0/1 99 88 37 51 0.58 exonic rs148531142 KRT3 AD nonframeshift deletion NM_057088 exon1 c.396_413del p.132_138del 0.072033 0.0954 0.5505 Uncertain 12_53201413_T->C 12 53201413 53201413 T C snp 197.77 0/1 99 12 5 7 0.58 intronic rs931479 KRT4 AD NM_002272 exon3 c.575-14T>C 0.837859 0.9345 0.821621 0.8356 0.9191 Uncertain 12_53202380_T->C 12 53202380 53202380 T C snp 273.77 0/1 99 12 4 8 0.67 intronic rs2307028 KRT4 AD NM_002272 exon5 c.1617-89T>C 0.617812 0.8413 Uncertain 12_53204614_C->T 12 53204614 53204614 C T snp 916.77 0/1 99 92 51 41 0.45 intronic rs2307027 KRT4 AD NM_002272 exon7 c.3748+14C>T 0.823482 0.8552 0.835680 0.8317 0.8597 Uncertain 12_53204757_T->C 12 53204757 53204757 T C snp 368.77 0/1 99 38 22 16 0.42 intronic rs10783539 KRT4 AD NM_002272 exon7 c.3748+157T>C 0.67472 0.8175 Uncertain 12_53207321_C->T 12 53207321 53207321 C T snp 147.77 0/1 99 9 4 5 0.56 intronic rs17119473 KRT4 AD NM_002272 exon9 c.6528-59C>T 0.6248 0.8145 Uncertain 12_53216184_A->G 12 53216184 53216184 A G snp 834.77 1/1 60 34 0 34 1.0 intronic rs4415849 KRT79 AU NM_175834 exon2 c.508+21A>G 0.9998 1 0.999923 0.9999 1 Uncertain 12_53217056_G->A 12 53217056 53217056 G A snp 507.77 0/1 99 44 23 21 0.48 intronic rs10876353 KRT79 AU NM_175834 exon3 c.1365+36G>A 0.480431 0.5099 0.441873 0.5319 0.5506 Uncertain 12_53217701_C->A 12 53217701 53217701 C A snp 922.77 0/1 99 66 28 38 0.58 exonic rs10876354 KRT79 AU synonymous SNV NM_175834 exon6 c.G1116T p.L372L 0.480631 0.5099 0.443257 0.5092 0.5206 Uncertain 12_53227803_A->G 12 53227803 53227803 A G snp 1311.77 0/1 99 112 58 54 0.48 exonic rs2638497 KRT79 AU nonsynonymous SNV NM_175834 exon1 c.T242C p.L81S 0.739617 0.7966 0.650846 0.6311 0.7884 0.42 T 0.0 P -1.024 T 0.0 T 0.0 T Pathogenic 12_53242440_A->G 12 53242440 53242440 A G snp 2839.77 0/1 99 240 126 114 0.47 exonic rs2013335 KRT78 AU nonsynonymous SNV NM_173352 exon1 c.T275C p.L92P 0.515375 0.5188 0.482008 0.5469 0.5249 0 D 1.000 P -0.972 T 1.0 D 0.998 D Pathogenic 12_53294381_T->C 12 53294381 53294381 T C snp 953.77 1/1 69 29 0 29 1.0 exonic rs8608 KRT8 AR synonymous SNV NM_002273 exon4 c.A681G p.L227L 0.567492 0.6042 0.485853 0.5530 0.6311 CLINSIG=untested;CLNDBN=not_provided;CLNREVSTAT=no_assertion_provided;CLNACC=RCV000056941.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Uncertain 12_53294821_T->G 12 53294821 53294821 T G snp 1387.77 1/1 99 53 1 52 0.98 intronic rs4351899 KRT8 AR NM_001256293 exon6 c.3731-121T>G 0.567692 0.6042 Uncertain 12_53295058_G->C 12 53295058 53295058 G C snp 212.84 1/1 18 6 0 6 1.0 intronic rs5019800 KRT8 AR NM_001256293 exon6 c.3792+55G>C 0.567292 0.6042 0.477880 Uncertain 12_53295063_T->C 12 53295063 53295063 T C snp 141.03 1/1 12 4 0 4 1.0 intronic rs5019799 KRT8 AR NM_001256293 exon6 c.3792+60T>C 0.567292 0.6042 0.472405 Uncertain 12_53295917_A->G 12 53295917 53295917 A G snp 972.77 1/1 72 30 0 30 1.0 intronic rs2035875 KRT8 AR NM_001256293 exon7 c.4645+61A>G 0.566893 0.6042 Uncertain 12_53343461_-->C 12 53343461 53343461 - C indel 8994.73 1/1 99 236 0 236 1.0 intronic rs17120866 KRT18 AR NM_199187 exon2 c.417+87insC 0.567692 0.5585 0.5339 0.6027 Uncertain 12_53344318_G->T 12 53344318 53344318 G T snp 874.77 1/1 66 28 0 28 1.0 intronic rs2070875 KRT18 AR NM_199187 exon3 c.1237+124G>T 0.230631 0.5298 Uncertain 12_53346244_G->A 12 53346244 53346244 G A snp 1747.77 0/1 99 144 69 75 0.52 intronic rs559688080 KRT18 AR NM_199187 exon7 c.3169+118G>A 0.000599042 0.003 Uncertain 12_53400178_C->T 12 53400178 53400178 C T snp 96.28 1/1 9 3 0 3 1.0 UTR5 rs10876394 EIF4B AU 0.753794 0.7966 0.801796 Uncertain 12_53400440_T->G 12 53400440 53400440 T G snp 4298.77 1/1 99 150 0 150 1.0 intronic rs61927957 EIF4B AU NM_001300821 exon1 c.13+160T>G 0.758387 0.7946 Uncertain 12_53414010_A->G 12 53414010 53414010 A G snp 258.8 1/1 21 7 0 7 1.0 intronic rs3782148 EIF4B AU NM_001300821 exon4 c.13543+200A>G 0.753994 0.7946 Uncertain 12_53416119_T->C 12 53416119 53416119 T C snp 3674.77 1/1 99 138 0 138 1.0 intronic rs7975725 EIF4B AU NM_001300821 exon6 c.16009-157T>C 0.753794 0.7946 Uncertain 12_53416251_C->T 12 53416251 53416251 C T snp 637.77 1/1 48 19 0 19 1.0 intronic rs10506315 EIF4B AU NM_001300821 exon6 c.16009-25C>T 0.753395 0.7946 0.804637 0.8657 0.8348 Uncertain 12_53421747_T->- 12 53421747 53421747 T - indel 3311.73 1/1 99 120 2 118 0.98 intronic rs59856997 EIF4B AU NM_001300821 exon7 c.21436+44delT 0.8745 0.8428 Uncertain 12_53432088_T->C 12 53432088 53432088 T C snp 867.77 1/1 63 28 0 28 1.0 intronic rs7968918 EIF4B AU NM_001300821 exon12 c.31872-51T>C 0.758786 0.7946 0.810388 Uncertain 12_53433089_C->A 12 53433089 53433089 C A snp 5949.77 1/1 99 220 0 220 1.0 exonic rs1548204 EIF4B AU synonymous SNV NM_001300821 exon13 c.C1659A p.G553G 0.982228 1 0.986587 0.9955 1 Uncertain 12_53433486_C->T 12 53433486 53433486 C T snp 1484.77 1/1 99 44 0 44 1.0 exonic rs8916 EIF4B AU synonymous SNV NM_001300821 exon14 c.C1770T p.S590S 0.753794 0.7946 0.805160 0.8694 0.8370 Uncertain 12_53433709_C->G 12 53433709 53433709 C G snp 630.77 1/1 48 17 0 17 1.0 intronic rs1356993 EIF4B AU NM_001300821 exon15 c.33659-217C>G 0.753594 0.7946 Uncertain 12_53433788_A->G 12 53433788 53433788 A G snp 2290.77 1/1 99 77 0 77 1.0 intronic rs1356994 EIF4B AU NM_001300821 exon15 c.33659-138A>G 0.757987 0.7946 Uncertain 12_53448320_C->T 12 53448320 53448320 C T snp 1004.77 1/1 75 32 0 32 1.0 intronic rs11170386 TNS2 AU NM_015319 exon7 c.5298+95C>T 0.511981 0.8294 Uncertain 12_53451952_C->T 12 53451952 53451952 C T snp 1263.77 0/1 99 124 71 53 0.43 intronic rs2280446 TNS2 AU NM_015319 exon14 c.8959+66C>T 0.360423 0.4385 Uncertain 12_53452264_CAGGTGGCAGG->- 12 53452264 53452274 CAGGTGGCAGG - indel 18803.7 1/1 99 225 0 225 1.0 intronic rs376058712 TNS2 AU NM_015319 exon15 c.9302+35_9302+45delCAGGTGGCAGG 0.707468 0.8819 0.505622 0.5245 0.8909 Uncertain 12_53452738_C->G 12 53452738 53452738 C G snp 603.77 0/1 99 54 28 26 0.48 intronic rs2293061 TNS2 AU NM_015319 exon18 c.9903-92C>G 0.178115 0.4018 Uncertain 12_53459881_T->A 12 53459881 53459881 T A snp 111.77 0/1 99 11 6 5 0.45 intronic rs10876402 SPRYD3 AU NM_032840 exon1 c.135+131T>A 0.54972 0.7202 Uncertain 12_53473298_G->T 12 53473298 53473298 G T snp 461.77 1/1 36 14 0 14 1.0 upstream rs3814774 SPRYD3 AU 0.112021 0.1746 Uncertain 12_53497288_A->G 12 53497288 53497288 A G snp 968.77 0/1 99 98 51 47 0.48 UTR5 rs2280698 SOAT2 AU 0.113419 0.1587 Uncertain 12_53497402_A->G 12 53497402 53497402 A G snp 582.77 0/1 99 70 43 27 0.39 exonic rs9658625 SOAT2 AU nonsynonymous SNV NM_003578 exon1 c.A41G p.E14G 0.104832 0.1617 0.052882 0.1153 0.1599 0.36 T 0.113 P -1.097 T 0.001 T 0.003 T ID=CM058419;DIS=Plasma lipids, association with;TAG=DFP;PUB=16195894 DFP Pathogenic 12_53497801_A->G 12 53497801 53497801 A G snp 393.77 0/1 99 37 24 13 0.35 intronic rs2280700 SOAT2 AU NM_003578 exon2 c.573-133A>G 0.126597 0.1528 Uncertain 12_53497927_C->G 12 53497927 53497927 C G snp 2981.77 0/1 99 250 127 123 0.49 intronic rs17123210 SOAT2 AU NM_003578 exon2 c.573-7C>G 0.126198 0.1518 0.083423 0.0899 0.1444 Uncertain 12_53499487_C->G 12 53499487 53499487 C G snp 1008.77 0/1 99 74 33 41 0.55 intronic rs2272302 SOAT2 AU NM_003578 exon4 c.2043+83C>G 0.309105 0.3185 Uncertain 12_53499505_A->G 12 53499505 53499505 A G snp 1011.77 0/1 99 68 31 37 0.54 intronic rs2272303 SOAT2 AU NM_003578 exon4 c.2043+101A>G 0.309305 0.3185 Uncertain 12_53499534_A->G 12 53499534 53499534 A G snp 682.77 0/1 99 60 36 24 0.4 intronic rs11170413 SOAT2 AU NM_003578 exon4 c.2043+130A>G 0.309505 0.3185 Uncertain 12_53499574_C->A 12 53499574 53499574 C A snp 706.77 0/1 99 88 64 24 0.27 intronic rs2272304 SOAT2 AU NM_003578 exon5 c.2329-116C>A 0.167931 0.1498 Uncertain 12_53509693_T->C 12 53509693 53509693 T C snp 350.77 0/1 88 13 3 10 0.77 intronic rs3817536 SOAT2 AU NM_003578 exon7 c.12519-187T>C 0.309505 0.3373 Uncertain 12_53509933_C->T 12 53509933 53509933 C T snp 2968.77 0/1 99 237 116 121 0.51 exonic rs2272296 SOAT2 AU nonsynonymous SNV NM_003578 exon7 c.C761T p.T254I 0.26258 0.3165 0.220898 0.1921 0.3011 0.46 T 0.015 P -0.978 T 0.002 T 0.007 T ID=CM055083;DIS=Plasma lipids, association with;TAG=DP;PUB=16195894 DP Pathogenic 12_53509947_C->T 12 53509947 53509947 C T snp 2850.77 0/1 99 230 110 120 0.52 exonic SOAT2 AU stopgain NM_003578 exon7 c.C775T p.R259X 0.43 T 1 A ID=COSM3671117;OCCURENCE=1(prostate) Pathogenic 12_53512770_G->T 12 53512770 53512770 G T snp 142.77 0/1 99 12 7 5 0.42 intronic rs711315 SOAT2 AU NM_003578 exon9 c.15358+51G>T 0.275759 0.131 0.279410 0.1770 0.1282 Uncertain 12_53513148_T->C 12 53513148 53513148 T C snp 608.77 0/1 99 51 26 25 0.49 intronic rs822683 SOAT2 AU NM_003578 exon10 c.15676+111T>C 0.346246 0.2738 Uncertain 12_53554352_C->A 12 53554352 53554352 C A snp 82.77 0/1 99 8 3 5 0.63 intronic rs145569488 CSAD AU NM_001244706 exon5 c.2252-194C>A 0.000599042 0.003 Uncertain 12_53645645_C->T 12 53645645 53645645 C T snp 2778.77 0/1 99 250 130 120 0.48 exonic rs117423151 MFSD5 AU synonymous SNV NM_001170790 exon1 c.C129T p.C43C 0.00179712 0.0079 0.0002 0 Uncertain 12_53647373_T->C 12 53647373 53647373 T C snp 6331.77 1/1 99 222 1 221 1.0 exonic rs10876422 MFSD5 AU synonymous SNV NM_001170790 exon2 c.T1075C p.L359L 0.463259 0.5972 0.412963 0.4810 0.5998 Uncertain 12_53662624_C->A 12 53662624 53662624 C A snp 2120.77 1/1 99 82 0 82 1.0 exonic rs6580942 ESPL1 AU nonsynonymous SNV NM_012291 exon2 c.C74A p.A25D 0.888379 0.999 0.766569 0.7766 0.9988 1 T 0.0 P -0.969 T 0.0 T 0.0 T Pathogenic 12_53662735_C->T 12 53662735 53662735 C T snp 5823.77 1/1 99 207 0 207 1.0 intronic rs4758965 ESPL1 AU NM_012291 exon3 c.257-72C>T 0.7502 0.9514 0.7283 0.9598 Uncertain 12_53664015_G->A 12 53664015 53664015 G A snp 260.8 1/1 21 7 0 7 1.0 intronic rs3741663 ESPL1 AU NM_012291 exon4 c.1611-146G>A 0.635583 0.8194 Uncertain 12_53664148_G->A 12 53664148 53664148 G A snp 2231.77 1/1 99 79 0 79 1.0 intronic rs4758963 ESPL1 AU NM_012291 exon4 c.1611-13G>A 0.459864 0.6012 0.408042 0.4868 0.6048 Uncertain 12_53664309_TTTGGGGTTGCTCCACTGCCCTCAAACAGC->- 12 53664309 53664338 TTTGGGGTTGCTCCACTGCCCTCAAACAGC - indel 9647.73 1/1 99 74 0 74 1.0 intronic rs11268347 ESPL1 AU NM_012291 exon4 c.1716+43_1716+72delTTTGGGGTTGCTCCACTGCCCTCAAACAGC 0.462859 0.499 0.2964 0.5872 Uncertain 12_53666713_A->G 12 53666713 53666713 A G snp 267.8 1/1 21 7 0 7 1.0 intronic rs4759086 ESPL1 AU NM_012291 exon6 c.4091+72A>G 0.831869 0.999 Uncertain 12_53670545_C->A 12 53670545 53670545 C A snp 7967.77 1/1 99 250 0 250 1.0 exonic rs1318648 ESPL1 AU nonsynonymous SNV NM_012291 exon8 c.C1842A p.S614R 0.633187 0.8194 0.567451 0.6561 0.8059 0.11 T 0.054 P -1.062 T 0.998 D 0.896 D Pathogenic 12_53671549_A->G 12 53671549 53671549 A G snp 1489.77 1/1 99 51 0 51 1.0 intronic rs2272313 ESPL1 AU NM_012291 exon11 c.9054-55A>G 0.633786 0.8194 Uncertain 12_53676814_T->C 12 53676814 53676814 T C snp 383.77 1/1 30 10 0 10 1.0 intronic rs1609474 ESPL1 AU NM_012291 exon15 c.14362-98T>C 0.648363 0.8194 Uncertain 12_53677072_T->G 12 53677072 53677072 T G snp 5429.77 1/1 99 182 0 182 1.0 intronic rs1609473 ESPL1 AU NM_012291 exon15 c.14491+31T>G 0.954473 1 0.951791 0.9863 0.9999 Uncertain 12_53677089_G->A 12 53677089 53677089 G A snp 5927.77 1/1 99 197 0 197 1.0 intronic rs4454760 ESPL1 AU NM_012291 exon15 c.14491+48G>A 0.954473 1 0.951791 0.9862 0.9999 Uncertain 12_53680081_G->A 12 53680081 53680081 G A snp 1865.77 0/1 99 180 98 82 0.46 exonic rs144484136 ESPL1 AU synonymous SNV NM_012291 exon18 c.G3561A p.V1187V 0.00179712 0.0079 0.0004 0.0054 Uncertain 12_53681883_A->T 12 53681883 53681883 A T snp 1489.77 1/1 99 52 0 52 1.0 exonic rs1110719 ESPL1 AU nonsynonymous SNV NM_012291 exon19 c.A4304T p.K1435M 0.877995 1 0.866523 0.9633 0.9999 0.02 T 0.968 P -0.993 T 0.761 T 0.275 P Pathogenic 12_53682268_AA->- 12 53682268 53682269 AA - indel 6326.73 1/1 99 126 0 126 1.0 intronic rs3080422 ESPL1 AU NM_012291 exon20 c.19771-53_19771-52delAA 0.652756 0.8204 Uncertain 12_53682326_G->A 12 53682326 53682326 G A snp 2787.77 1/1 99 107 0 107 1.0 exonic rs1110720 ESPL1 AU synonymous SNV NM_012291 exon20 c.G4551A p.G1517G 0.645367 0.8204 0.570209 0.6606 0.8044 Uncertain 12_53686703_G->A 12 53686703 53686703 G A snp 3181.78 1/1 99 109 0 109 1.0 exonic rs1056685 ESPL1 AU nonsynonymous SNV NM_012291 exon30 c.G6110A p.R2037H 0.969449 1 0.965016 0.9899 0.9999 0.53 T 0.129 P -0.997 T 0.004 T 0.005 T Pathogenic 12_53689190_C->G 12 53689190 53689190 C G snp 1187.77 1/1 90 35 0 35 1.0 upstream rs1870240 PFDN5 AU 0.968051 1 Uncertain 12_53690189_T->- 12 53690189 53690189 T - indel 285.73 1/1 33 18 0 18 1.0 intronic rs553312552 PFDN5 AU NM_002624 exon3 c.708+130delT 0.920527 0.9821 0.9103 0.9436 Uncertain 12_53691962_C->A 12 53691962 53691962 C A snp 1264.77 1/1 90 43 0 43 1.0 intronic rs2694861 PFDN5 AU NM_145897 exon3 c.2583+28C>A 0.891973 0.9514 0.903275 0.9558 0.9619 Uncertain 12_53692955_G->A 12 53692955 53692955 G A snp 2432.77 1/1 99 75 0 75 1.0 intronic rs1020745 PFDN5 AU NM_145897 exon4 c.3701-97G>A 0.913538 0.9514 Uncertain 12_53693278_G->- 12 53693278 53693278 G - indel 293.74 1/1 27 12 0 12 1.0 upstream;downstream rs398076642 C12orf10;PFDN5 UN 0.949681 1 Uncertain 12_53693532_A->G 12 53693532 53693532 A G snp 1798.77 1/1 99 53 0 53 1.0 exonic rs1534284 C12orf10 AU nonsynonymous SNV NM_021640 exon1 c.A11G p.Q4R 0.949681 1 0.940163 0.9845 0.9994 1 T 0.000 P -0.954 T 0.0 T 0.0 T Pathogenic 12_53693533_A->C 12 53693533 53693533 A C snp 1865.77 1/1 99 55 0 55 1.0 exonic rs1534283 C12orf10 AU nonsynonymous SNV NM_021640 exon1 c.A12C p.Q4H 0.949681 1 0.939942 0.9845 0.9994 0.17 T 0.000 P -1.037 T 0.0 T 0.0 T Pathogenic 12_53700848_C->T 12 53700848 53700848 C T snp 4739.77 1/1 99 166 0 166 1.0 exonic rs1534282 C12orf10 AU nonsynonymous SNV NM_021640 exon7 c.C1046T p.T349I 0.96885 1 0.964785 0.9899 0.9999 1 T 0.000 P -0.948 T 0.0 T 0.001 T Pathogenic 12_53700860_A->G 12 53700860 53700860 A G snp 3958.77 1/1 99 138 0 138 1.0 exonic rs711316 C12orf10 AU nonsynonymous SNV NM_021640 exon7 c.A1058G p.H353R 0.949681 1 0.939797 0.9840 0.9999 0.4 T 0.000 P -0.946 T 0.0 T 0.0 T Pathogenic 12_53702371_T->C 12 53702371 53702371 T C snp 2773.77 1/1 99 93 0 93 1.0 intronic rs4759287 AAAS AR NM_001173466 exon5 c.1040+59T>C 0.96865 0.999 Uncertain 12_53703021_G->A 12 53703021 53703021 G A snp 2708.77 1/1 99 96 0 96 1.0 exonic rs1546808 AAAS AR synonymous SNV NM_015665 exon9 c.C855T p.F285F 0.915335 1 0.906274 0.9745 0.9999 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000116212.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 12_53708011_G->C 12 53708011 53708011 G C snp 2174.77 1/1 99 69 0 69 1.0 intronic rs7953255 AAAS AR NM_001173466 exon10 c.6809-70G>C 0.9375 0.999 Uncertain 12_53709708_G->T 12 53709708 53709708 G T snp 673.77 1/1 51 20 0 20 1.0 intronic rs7960963 AAAS AR NM_001173466 exon13 c.8294+142G>T 0.925919 0.9514 Uncertain 12_53714290_T->G 12 53714290 53714290 T G snp 548.77 1/1 42 17 0 17 1.0 intronic rs4759232 AAAS AR NM_001173466 exon14 c.13076-58T>G 0.951478 1 Uncertain 12_53714496_A->G 12 53714496 53714496 A G snp 2251.77 1/1 99 80 0 80 1.0 intronic rs4759231 AAAS AR NM_001173466 exon14 c.13204+20A>G 0.932109 1 0.914270 0.9771 0.9999 Uncertain 12_53714509_T->G 12 53714509 53714509 T G snp 2148.77 1/1 99 76 0 76 1.0 intronic rs7298879 AAAS AR NM_001173466 exon14 c.13204+33T>G 0.932109 1 0.914270 0.9771 0.9999 Uncertain 12_53714993_C->T 12 53714993 53714993 C T snp 331.78 1/1 27 9 0 9 1.0 intronic rs4759020 AAAS AR NM_001173466 exon15 c.13854-133C>T 0.932109 1 Uncertain 12_53722098_A->G 12 53722098 53722098 A G snp 5570.77 1/1 99 201 0 201 1.0 exonic rs7138938 SP7 AR synonymous SNV NM_001173467 exon3 c.T1128C p.H376H 0.961262 0.999 0.952294 0.9866 0.9995 Uncertain 12_53722128_G->A 12 53722128 53722128 G A snp 6820.77 1/1 99 250 0 250 1.0 exonic rs7139272 SP7 AR synonymous SNV NM_001173467 exon3 c.C1098T p.S366S 0.895567 0.9524 0.899411 0.9582 0.9629 Uncertain 12_53804875_A->G 12 53804875 53804875 A G snp 1082.77 0/1 99 97 56 41 0.42 exonic rs3741665 SP1 AU nonsynonymous SNV NM_001251825 exon6 c.A2065G p.T689A 0.00119808 0.006 0.0003 0.0036 0.32 T 0.902 D -0.954 T 0.0 T 0.0 T Pathogenic 12_53875138_-->A 12 53875138 53875138 - A indel 424.73 0/1 99 44 30 14 0.32 intronic rs3837460 MAP3K12 AU NM_006301 exon1 c.99+74insA 0.000599042 0.003 Uncertain 12_53877562_C->T 12 53877562 53877562 C T snp 1009.77 1/1 75 28 0 28 1.0 intronic rs784565 MAP3K12 AU NM_006301 exon6 c.2542+55C>T 0.91893 1 Uncertain 12_53926262_G->A 12 53926262 53926262 G A snp 1168.77 1/1 84 41 0 41 1.0 intronic rs7307804 ATF7 AU NM_006856 exon5 c.15373-31G>A 0.255591 0.5665 0.139463 0.2710 0.6127 Uncertain 12_53946595_C->G 12 53946595 53946595 C G snp 229.84 1/1 18 8 0 8 1.0 intronic rs3741652 ATF7 AU NM_006856 exon10 c.35501+174C>G 0.485623 0.7391 Uncertain 12_53994651_C->G 12 53994651 53994651 C G snp 2732.77 1/1 99 106 0 106 1.0 intronic rs10876467 ATF7 AU NM_006856 exon11 c.83816-85C>G 0.26258 0.5565 Uncertain 12_54067544_A->G 12 54067544 54067544 A G snp 54.74 1/1 6 3 0 3 1.0 intronic rs2857000 ATP5G2 AU NM_005176 exon4 c.7332+1115A>G 0.995407 1 0.9467 1 Uncertain 12_54069807_C->T 12 54069807 54069807 C T snp 533.77 0/1 99 32 16 16 0.5 intronic rs147349765 ATP5G2 AU NM_005176 exon5 c.10739-29C>T 0.00219649 0.0109 0.000077 0.0015 0.0174 Uncertain 12_54070062_-->TG 12 54070062 54070062 - TG indel 5728.73 1/1 99 115 0 115 1.0 UTR5 rs4020138 ATP5G2 AU 0.563898 0.9315 Uncertain 12_54108228_G->C 12 54108228 54108228 G C snp 1425.77 1/1 99 44 0 44 1.0 intronic rs2277368 CALCOCO1 AU NM_020898 exon5 c.2654-153G>C 0.4998 0.5903 Uncertain 12_54110197_A->G 12 54110197 54110197 A G snp 2405.77 1/1 99 82 0 82 1.0 exonic rs2277369 CALCOCO1 AU synonymous SNV NM_020898 exon8 c.T852C p.A284A 0.108027 0.2966 0.017146 0.0701 0.2600 Uncertain 12_54113699_G->- 12 54113699 54113699 G - indel 1073.73 1/1 75 25 0 25 1.0 intronic rs3832828 CALCOCO1 AU NM_020898 exon9 c.7886+86delG 0.10623 0.2946 Uncertain 12_54117265_C->G 12 54117265 54117265 C G snp 2069.77 1/1 99 70 0 70 1.0 intronic rs2293441 CALCOCO1 AU NM_020898 exon12 c.11649-111C>G 0.10623 0.2966 Uncertain 12_54339052_C->A 12 54339052 54339052 C A snp 2580.77 1/1 99 92 0 92 1.0 UTR3 rs4759058 HOXC13 AR 0.536142 0.7927 0.563202 0.6350 0.7878 Uncertain 12_54348571_-->A 12 54348571 54348571 - A indel 205.8 1/1 18 6 0 6 1.0 upstream rs199806153 HOXC12 AU 0.4377 0.7083 Uncertain 12_54348578_G->A 12 54348578 54348578 G A snp 234.8 1/1 21 7 0 7 1.0 upstream rs55661050 HOXC12 AU 0.426717 0.6845 Uncertain 12_54349365_C->T 12 54349365 54349365 C T snp 302.78 1/1 24 11 0 11 1.0 intronic rs10876524 HOXC12 AU NM_173860 exon1 c.610+42C>T 0.752995 0.8611 0.8265 0.9412 Uncertain 12_54367061_T->G 12 54367061 54367061 T G snp 3278.77 1/1 99 105 0 105 1.0 exonic rs4759315 HOXC11 AU synonymous SNV NM_014212 exon1 c.T36G p.S12S 0.999401 1 0.999308 0.9998 1 Uncertain 12_54385599_C->T 12 54385599 54385599 C T snp 458.77 0/1 99 39 20 19 0.49 ncRNA_exonic rs11614913 MIR196A2 AU 0.332668 0.5417 0.340583 0.4220 0.5673 ID=CR086276;DIS=Non-small cell lung cancer survival, association with;TAG=DFP;PUB=18521189 DFP Uncertain 12_54394497_C->T 12 54394497 54394497 C T snp 509.77 0/1 99 53 26 27 0.51 exonic rs2241820 HOXC9 AU synonymous SNV NM_006897 exon1 c.C525T p.A175A 0.578075 0.7609 0.605300 0.6682 0.7994 Uncertain 12_54405190_C->T 12 54405190 54405190 C T snp 35.77 0/1 64 8 6 2 0.25 UTR3 rs4142680 HOXC8 AU 0.465256 0.5784 0.4369 0.5770 Uncertain 12_54428011_C->A 12 54428011 54428011 C A snp 578.77 0/1 99 38 18 20 0.53 intronic rs2071449 HOXC4 AU 0.28155 0.4544 0.283869 0.3468 0.4373 Uncertain 12_54496006_T->C 12 54496006 54496006 T C snp 626.77 1/1 48 17 0 17 1.0 ncRNA_exonic rs12308675 LOC100240734 AU 0.697085 0.5853 0.7126 0.6692 Uncertain 12_54496166_G->T 12 54496166 54496166 G T snp 3856.77 1/1 99 151 0 151 1.0 ncRNA_exonic rs3195797 LOC100240734 AU 0.690495 0.5764 0.7089 0.6591 Uncertain 12_54496219_A->G 12 54496219 54496219 A G snp 1035.77 0/1 99 106 59 47 0.44 ncRNA_exonic rs1133773 LOC100240734 AU 0.398363 0.2837 0.3241 0.2955 Uncertain 12_54575458_T->C 12 54575458 54575458 T C snp 1183.77 0/1 99 95 47 48 0.51 UTR3 rs971 SMUG1 AU 0.723642 0.6657 0.709801 0.7046 0.6717 Uncertain 12_54575800_C->A 12 54575800 54575800 C A snp 164.77 0/1 64 10 4 6 0.6 UTR3 rs2233921 SMUG1 AU 0.315296 0.3998 Uncertain 12_54635846_G->T 12 54635846 54635846 G T snp 56.74 1/1 6 2 0 2 1.0 intronic rs2293602 CBX5 AU NM_001127321 exon1 c.151+157G>T 0.585264 0.504 Uncertain 12_54651471_A->G 12 54651471 54651471 A G snp 1092.77 1/1 81 35 1 34 0.97 UTR5 rs1140681 CBX5 AU 0.579872 0.496 0.511149 0.4707 0.5097 Uncertain 12_54677980_C->T 12 54677980 54677980 C T snp 623.77 1/1 48 16 0 16 1.0 ncRNA_intronic rs7967622 HNRNPA1P10 AU 0.880391 0.998 0.729961 Uncertain 12_54687232_A->C 12 54687232 54687232 A C snp 1949.77 1/1 99 73 0 73 1.0 intronic rs10506328 NFE2 AU NM_001136023 exon1 c.1008+67A>C 0.878794 0.998 Uncertain 12_54734289_A->G 12 54734289 54734289 A G snp 1076.77 0/1 99 115 69 46 0.4 exonic rs11170877 COPZ1 AU nonsynonymous SNV NM_001271736 exon2 c.A1G p.M1V 0.201278 0.2222 0.151776 0.1540 0.2337 0 D 0.0 P -1.061 T 0.0 T 0.0 T Pathogenic 12_54740214_G->A 12 54740214 54740214 G A snp 43.77 0/1 72 4 2 2 0.5 intronic rs61614746 COPZ1 AU NM_001271735 exon5 c.20352+915G>A 0.134585 0.2024 Uncertain 12_54740379_T->G 12 54740379 54740379 T G snp 1178.77 0/1 99 110 58 52 0.47 intronic rs4758958 COPZ1 AU NM_001271735 exon5 c.20352+1080T>G 0.167732 0.2024 0.1100 0.1667 Uncertain 12_54764618_T->C 12 54764618 54764618 T C snp 558.77 1/1 42 15 0 15 1.0 ncRNA_intronic rs2706248 LOC102724050 AU 0.996805 1 Uncertain 12_54764962_G->T 12 54764962 54764962 G T snp 475.77 0/1 99 67 41 26 0.39 ncRNA_intronic rs2244933 LOC102724050 AU 0.695687 0.6865 Uncertain 12_54765006_CTAA->- 12 54765006 54765009 CTAA - indel 901.73 0/1 99 43 22 21 0.49 ncRNA_intronic rs3830651 LOC102724050 AU 0.701478 0.6915 Uncertain 12_54767613_C->T 12 54767613 54767613 C T snp 218.77 0/1 99 21 11 10 0.48 ncRNA_intronic rs2706258 LOC102724050 AU 0.66873 0.6905 Uncertain 12_54767812_G->A 12 54767812 54767812 G A snp 1478.77 0/1 99 122 57 65 0.53 exonic rs2887875 ZNF385A AU synonymous SNV NM_001290001 exon3 c.C306T p.D102D 0.240016 0.3075 0.161771 0.2296 0.2906 Uncertain 12_54767981_-->AG 12 54767981 54767981 - AG indel 371.73 0/1 99 26 12 14 0.54 ncRNA_intronic rs3034352 LOC102724050 AU 0.670927 0.6915 Uncertain 12_54769864_A->C 12 54769864 54769864 A C snp 35.77 0/1 64 4 2 2 0.5 ncRNA_intronic rs2700153 LOC102724050 AU 0.718251 0.6915 Uncertain 12_54772755_C->A 12 54772755 54772755 C A snp 104.28 1/1 9 5 0 5 1.0 ncRNA_intronic rs2706256 LOC102724050 AU 0.964257 1 Uncertain 12_54799450_A->G 12 54799450 54799450 A G snp 3708.77 1/1 99 132 0 132 1.0 exonic rs1249378 ITGA5 AU synonymous SNV NM_002205 exon11 c.T1014C p.D338D 0.995607 1 0.994849 0.9987 0.9999 Uncertain 12_54805753_G->T 12 54805753 54805753 G T snp 2400.77 1/1 99 85 0 85 1.0 splicing rs1922254 ITGA5 AU NM_002205 exon29 c.15672+5G>T 0.863618 0.9345 0.8880 0.9514 Pathogenic 12_54805765_C->T 12 54805765 54805765 C T snp 2341.77 1/1 99 81 0 81 1.0 ncRNA_intronic rs1249181 LOC102724050 AU 0.845447 0.9345 0.874212 0.8832 0.9513 Uncertain 12_54905815_C->G 12 54905815 54905815 C G snp 3697.77 1/1 99 132 1 131 0.99 exonic rs2458409 NCKAP1L AU synonymous SNV NM_001184976 exon9 c.C717G p.L239L 0.81869 0.9494 0.775719 0.8169 0.9658 Uncertain 12_54910837_G->A 12 54910837 54910837 G A snp 3327.77 1/1 99 121 0 121 1.0 intronic rs1691630 NCKAP1L AU NM_005337 exon11 c.19203+61G>A 0.903954 0.998 Uncertain 12_54911768_C->T 12 54911768 54911768 C T snp 2161.77 1/1 99 67 0 67 1.0 intronic rs1795838 NCKAP1L AU NM_005337 exon13 c.20149+46C>T 0.539337 0.7629 0.454021 0.5490 0.8058 Uncertain 12_54925750_A->C 12 54925750 54925750 A C snp 792.77 1/1 60 26 0 26 1.0 intronic rs10747697 NCKAP1L AU NM_005337 exon25 c.34036+141A>C 0.999601 1 Uncertain 12_54925871_-->T 12 54925871 54925871 - T indel 52.73 0/1 90 38 25 13 0.34 intronic NCKAP1L AU NM_005337 exon26 c.34380-82insT Uncertain 12_54930914_A->G 12 54930914 54930914 A G snp 1497.77 0/1 99 93 37 56 0.6 intronic rs2036067 NCKAP1L AU NM_005337 exon29 c.39264+77A>G 0.199281 0.3204 Uncertain 12_54932788_T->C 12 54932788 54932788 T C snp 3090.77 1/1 99 118 0 118 1.0 intronic rs4758966 NCKAP1L AU NM_005337 exon30 c.41184+31T>C 0.889177 0.9504 0.868138 0.8929 0.9677 Uncertain 12_54955324_T->C 12 54955324 54955324 T C snp 265.77 0/1 99 22 10 12 0.55 UTR5 rs10747699 PDE1B AU 0.60603 0.6121 0.6678 0.5909 Uncertain 12_54955461_A->G 12 54955461 54955461 A G snp 830.77 0/1 99 56 20 36 0.64 intronic rs9668037 PDE1B AU NM_001165975 exon1 c.53+40A>G 0.672324 0.6121 0.7001 0.5904 Uncertain 12_54955545_-->GT 12 54955545 54955545 - GT indel 419.87 0/1 15 28 3 25 0.89 intronic rs3036634 PDE1B AU NM_001165975 exon1 c.53+124insGT Uncertain 12_54963491_-->T 12 54963491 54963491 - T indel 188.74 1/1 27 22 0 22 1.0 intronic rs398019664 PDE1B AU NM_001165975 exon4 c.8028+95insT 0.404153 0.4812 Uncertain 12_54970236_G->A 12 54970236 54970236 G A snp 165.9 1/1 15 5 0 5 1.0 intronic rs11170976 PDE1B AU NM_001165975 exon13 c.14986-118G>A 0.176917 0.1736 Uncertain 12_54975837_T->C 12 54975837 54975837 T C snp 2194.77 1/1 99 80 1 79 0.99 exonic rs1249958 PPP1R1A AU nonsynonymous SNV NM_006741 exon5 c.A326G p.E109G 0.970847 1 0.970374 0.9922 1 0.76 T 0.0 P -0.992 T 0.0 T 0.0 T Pathogenic 12_55002014_C->T 12 55002014 55002014 C T snp 599.77 1/1 45 19 0 19 1.0 ncRNA_exonic rs1795819 GLYCAM1 AU 0.749201 0.9782 Uncertain 12_55002053_C->G 12 55002053 55002053 C G snp 1283.77 1/1 93 43 0 43 1.0 ncRNA_exonic rs1795818 GLYCAM1 AU 0.682508 0.7966 Uncertain 12_55002065_G->A 12 55002065 55002065 G A snp 1281.77 1/1 93 47 0 47 1.0 ncRNA_exonic rs1716356 GLYCAM1 AU 0.957468 1 Uncertain 12_55003931_G->A 12 55003931 55003931 G A snp 227.84 1/1 18 7 0 7 1.0 ncRNA_intronic rs939463 GLYCAM1 AU 0.522364 0.9454 Uncertain 12_55004150_C->A 12 55004150 55004150 C A snp 1165.77 1/1 84 46 0 46 1.0 ncRNA_exonic rs937308 GLYCAM1 AU 0.910543 1 Uncertain 12_55039662_A->C 12 55039662 55039662 A C snp 389.77 0/1 99 31 16 15 0.48 intronic rs76825081 DCD AU NM_053283 exon3 c.995+171A>C 0.0569089 0.0149 Uncertain 12_55041079_T->A 12 55041079 55041079 T A snp 1413.77 1/1 99 45 0 45 1.0 intronic rs903768 DCD AU NM_053283 exon4 c.2447+136T>A 0.698283 0.6359 Uncertain 12_55042118_A->G 12 55042118 55042118 A G snp 305.77 0/1 99 44 28 16 0.36 UTR5 rs78394705 DCD AU 0.0561102 0.0119 0.076888 0.0792 0.0238 Uncertain 12_55248357_G->T 12 55248357 55248357 G T snp 3102.77 1/1 99 115 0 115 1.0 UTR5 rs1048371 MUCL1 AU 0.546326 0.8393 0.400584 0.5206 0.8426 Uncertain 12_55248739_T->C 12 55248739 55248739 T C snp 962.77 1/1 72 26 0 26 1.0 intronic rs10783684 MUCL1 AU NM_058173 exon2 c.533-160T>C 0.482628 0.8373 Uncertain 12_55250549_T->G 12 55250549 55250549 T G snp 5309.77 1/1 99 190 0 190 1.0 splicing rs10783685 MUCL1 AU NM_058173 exon3 c.2187-4T>G 0.346917 0.5404 0.7672 Pathogenic 12_55250612_A->G 12 55250612 55250612 A G snp 7176.77 1/1 99 250 0 250 1.0 exonic rs1349910 MUCL1 AU synonymous SNV NM_058173 exon3 c.A159G p.A53A 0.960264 0.998 0.947947 0.9638 0.9993 Uncertain 12_55250714_G->A 12 55250714 55250714 G A snp 4878.77 1/1 99 174 0 174 1.0 intronic rs10876639 MUCL1 AU NM_058173 exon3 c.2310+38G>A 0.459465 0.7262 0.320314 0.4652 0.7446 Uncertain 12_55343928_A->T 12 55343928 55343928 A T snp 141.03 1/1 12 4 0 4 1.0 UTR3 rs1047039 TESPA1 AU 0.389976 0.6647 Uncertain 12_55344024_G->A 12 55344024 55344024 G A snp 419.77 0/1 99 28 11 17 0.61 UTR3 rs1801876 TESPA1 AU 0.321086 0.623 0.3363 0.6827 0 D 0.0 P Uncertain 12_55344133_C->G 12 55344133 55344133 C G snp 701.77 0/1 99 58 26 32 0.55 UTR3 rs2171497 TESPA1 AU 0.302117 0.624 0.3075 0.6822 0 D 0.0 P -0.948 T Uncertain 12_55344194_G->A 12 55344194 55344194 G A snp 1102.77 1/1 78 40 0 40 1.0 intronic rs1386806 TESPA1 AU 0.44349 0.8264 0.3543 0.8267 Uncertain 12_55354877_A->- 12 55354877 55354877 A - indel 828.73 0/1 99 69 30 39 0.57 intronic rs5798332 TESPA1 AU Uncertain 12_55355033_C->T 12 55355033 55355033 C T snp 2292.77 0/1 99 216 118 98 0.45 exonic rs997173 TESPA1 AU nonsynonymous SNV NM_014796 exon8 c.G1072A p.E358K 0.304113 0.619 0.066979 0.1937 0.6510 0.02 T 0.000 P -0.939 T 0.004 T 0.01 T Pathogenic 12_55356530_C->T 12 55356530 55356530 C T snp 2481.77 0/1 99 179 75 104 0.58 exonic rs142793082 TESPA1 AU synonymous SNV NM_014796 exon7 c.G738A p.S246S 0.00738818 0.0347 0.002187 0.0050 0.0299 Uncertain 12_55357070_A->G 12 55357070 55357070 A G snp 592.77 0/1 99 52 28 24 0.46 intronic rs144685582 TESPA1 AU NM_001261844 exon3 c.2074+44A>G 0.00738818 0.0347 0.001845 0.0059 0.0414 Uncertain 12_55367178_C->T 12 55367178 55367178 C T snp 1593.77 0/1 99 125 60 65 0.52 intronic rs3741673 TESPA1 AU NM_001261844 exon9 c.12308-82C>T 0.385783 0.6706 Uncertain 12_55368245_G->A 12 55368245 55368245 G A snp 2890.77 1/1 99 106 0 106 1.0 exonic rs4758993 TESPA1 AU synonymous SNV NM_001098815 exon2 c.C102T p.A34A 0.410942 0.7044 0.212658 0.3698 0.7378 Uncertain 12_55368368_G->A 12 55368368 55368368 G A snp 1868.77 1/1 99 67 1 66 0.99 UTR5 rs4758994 TESPA1 AU 0.445687 0.7044 0.245615 0.3802 0.7218 Uncertain 12_55368441_T->C 12 55368441 55368441 T C snp 829.77 1/1 60 31 0 31 1.0 intronic rs4759131 TESPA1 AU NM_001098815 exon10 c.13439+50T>C 0.46865 0.7044 Uncertain 12_55368528_T->C 12 55368528 55368528 T C snp 78.77 0/1 61 6 3 3 0.5 intronic rs4759132 TESPA1 AU NM_001098815 exon10 c.13439+137T>C 0.403754 0.6706 Uncertain 12_55688267_G->A 12 55688267 55688267 G A snp 7609.77 1/1 99 249 0 249 1.0 exonic rs7308594 OR6C6 AU synonymous SNV NM_001005493 exon1 c.C750T p.Y250Y 0.814696 0.9206 0.753999 0.7315 0.9211 Uncertain 12_55714772_G->A 12 55714772 55714772 G A snp 5097.77 1/1 99 185 0 185 1.0 exonic rs7132431 OR6C1 AU nonsynonymous SNV NM_001005182 exon1 c.G389A p.C130Y 0.782748 0.8581 0.797939 0.7683 0.8592 1 T 0.001 P -0.999 T 0.0 T 0.0 T Pathogenic 12_55714876_C->G 12 55714876 55714876 C G snp 5339.77 1/1 99 189 0 189 1.0 exonic rs7132347 OR6C1 AU nonsynonymous SNV NM_001005182 exon1 c.C493G p.H165D 0.780152 0.8591 0.800415 0.7666 0.8586 1 T 0.0 P -0.967 T 0.0 T 0.0 T Pathogenic 12_55715119_G->A 12 55715119 55715119 G A snp 7477.77 1/1 99 250 0 250 1.0 exonic rs7132916 OR6C1 AU nonsynonymous SNV NM_001005182 exon1 c.G736A p.V246I 0.780351 0.8542 0.800938 0.7670 0.8550 0.37 T 0.0 P -0.910 T 0.0 T 0.006 T Pathogenic 12_55726450_A->T 12 55726450 55726450 A T snp 1521.77 1/1 99 45 0 45 1.0 downstream rs7976828 OR6C3 AU 0.261182 0.4911 0.195309 0.2396 0.5222 Uncertain 12_55758832_T->C 12 55758832 55758832 T C snp 647.77 1/1 48 21 0 21 1.0 upstream rs7962135 OR6C75 AU 0.850639 0.9276 Uncertain 12_55759851_A->G 12 55759851 55759851 A G snp 2408.77 1/1 99 75 0 75 1.0 downstream rs7489047 OR6C75 AU 0.26238 0.4911 0.213681 0.2384 0.5169 Uncertain 12_55794264_A->G 12 55794264 55794264 A G snp 1211.77 1/1 87 41 0 41 1.0 upstream rs7967395 OR6C65 AU 0.780551 0.9266 0.737897 0.8336 0.9172 Uncertain 12_55794976_A->G 12 55794976 55794976 A G snp 6777.77 1/1 99 246 0 246 1.0 exonic rs7971073 OR6C65 AU nonsynonymous SNV NM_001005518 exon1 c.A664G p.T222A 0.780551 0.9266 0.735507 0.8343 0.9091 0.04 T 0.0 P -0.971 T 0.623 T 0.595 P Pathogenic 12_55806238_A->G 12 55806238 55806238 A G snp 7500.77 1/1 99 250 0 250 1.0 intergenic rs7300594 OR6C65 AU 0.617612 0.8185 Uncertain 12_55807293_A->G 12 55807293 55807293 A G snp 3266.77 1/1 99 100 0 100 1.0 intergenic rs3887805 OR6C65 AU Uncertain 12_55808469_C->G 12 55808469 55808469 C G snp 2591.77 1/1 99 87 0 87 1.0 intergenic rs7132076 OR6C65 AU 0.894569 1 Uncertain 12_55820121_C->T 12 55820121 55820121 C T snp 6121.77 1/1 99 213 0 213 1.0 exonic rs6581046 OR6C76 AU synonymous SNV NM_001005183 exon1 c.C84T p.F28F 0.712859 0.8919 0.635322 0.6360 0.9074 Uncertain 12_55820872_G->A 12 55820872 55820872 G A snp 971.77 0/1 99 81 39 42 0.52 exonic rs747646231 OR6C76 AU nonsynonymous SNV NM_001005183 exon1 c.G835A p.A279T 2.49e-05 0 0.04 T 0.874 N -1.002 T 0.987 D 0.745 D Pathogenic 12_55863224_C->G 12 55863224 55863224 C G snp 3839.77 1/1 99 132 0 132 1.0 exonic rs60683621 OR6C70 AU nonsynonymous SNV NM_001005499 exon1 c.G699C p.K233N 0.26278 0.4911 0.211210 0.2230 0.5143 0 D 0.000 P -0.833 T 0.045 T 0.071 T Pathogenic 12_55863381_A->G 12 55863381 55863381 A G snp 3081.77 1/1 99 109 0 109 1.0 exonic rs10747756 OR6C70 AU nonsynonymous SNV NM_001005499 exon1 c.T542C p.L181P 0.829872 0.8929 0.819852 0.7713 0.9077 1 T 0.0 P -0.991 T 0.0 T 0.0 T Pathogenic 12_55886294_G->A 12 55886294 55886294 G A snp 5097.77 1/1 99 198 0 198 1.0 exonic rs7133698 OR6C68 AU nonsynonymous SNV NM_001005519 exon1 c.G133A p.A45T 0.623602 0.8135 0.579117 0.6086 0.8160 1 T 0.0 P -0.973 T 0.002 T 0.001 T Pathogenic 12_55886489_T->A 12 55886489 55886489 T A snp 5489.77 1/1 99 193 2 191 0.99 exonic rs7304753 OR6C68 AU nonsynonymous SNV NM_001005519 exon1 c.T328A p.F110I 0.263778 0.4931 0.211902 0.2231 0.5146 0 D 0.035 P -0.823 T 0.999 D 0.964 D Pathogenic 12_55887087_G->T 12 55887087 55887087 G T snp 1574.77 1/1 99 49 0 49 1.0 exonic rs12579181 OR6C68 AU nonsynonymous SNV NM_001005519 exon1 c.G926T p.R309L 0.367612 0.5694 0.282747 0.2667 0.6059 0.69 T 0.0 P -0.928 T 0.0 T 0.0 T Pathogenic 12_55944926_G->A 12 55944926 55944926 G A snp 1058.77 1/1 78 30 0 30 1.0 upstream rs7313959 OR6C4 AU 0.992212 1 Uncertain 12_55945119_A->G 12 55945119 55945119 A G snp 7757.77 1/1 99 250 0 250 1.0 exonic rs7313899 OR6C4 AU nonsynonymous SNV NM_001005494 exon1 c.A109G p.I37V 0.995407 1 0.989620 0.9924 1 1 T 0.0 P -0.982 T 0.0 T 0.001 T Pathogenic 12_56031611_A->G 12 56031611 56031611 A G snp 1527.77 0/1 99 118 58 60 0.51 exonic rs11171631 OR10P1 AU synonymous SNV NM_206899 exon1 c.A936G p.S312S 0.228435 0.5367 0.153775 0.1891 0.5546 Uncertain 12_56031704_T->C 12 56031704 56031704 T C snp 175.77 0/1 99 13 7 6 0.46 downstream rs2555035 OR10P1 AU 0.744808 0.8254 Uncertain 12_56079084_C->G 12 56079084 56079084 C G snp 1665.77 0/1 99 141 72 69 0.49 intronic rs3852533 ITGA7 AR NM_001144996 exon1 c.231+12C>G 0.594649 0.9306 0.439413 0.5841 0.9401 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000079987.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 12_56080148_T->C 12 56080148 56080148 T C snp 879.77 0/1 99 99 62 37 0.37 intronic rs3782239 ITGA7 AR NM_001144996 exon1 c.231+1076T>C 0.592452 0.9306 0.5936 0.9203 Uncertain 12_56080164_T->G 12 56080164 56080164 T G snp 745.77 0/1 99 77 48 29 0.38 intronic rs7306191 ITGA7 AR NM_001144996 exon1 c.231+1092T>G 0.699481 0.9375 Uncertain 12_56082785_C->G 12 56082785 56082785 C G snp 721.77 0/1 99 43 17 26 0.6 intronic rs3782240 ITGA7 AR NM_001144996 exon4 c.3900+44C>G 0.590455 0.9296 0.435395 0.5854 0.9401 Uncertain 12_56088206_T->C 12 56088206 56088206 T C snp 1990.77 0/1 99 175 92 83 0.47 intronic rs7953669 ITGA7 AR NM_001144996 exon9 c.9385-20T>C 0.703874 0.9365 0.564124 0.6212 0.9484 Uncertain 12_56088773_C->T 12 56088773 56088773 C T snp 1431.77 0/1 99 122 59 63 0.52 intronic rs2293410 ITGA7 AR NM_001144996 exon11 c.9913+19C>T 0.589257 0.9296 0.437952 0.5900 0.9407 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000079981.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 12_56088912_C->T 12 56088912 56088912 C T snp 158.77 0/1 97 8 3 5 0.63 intronic rs4143553 ITGA7 AR NM_001144996 exon11 c.9913+158C>T 0.589457 0.9296 Uncertain 12_56089357_C->T 12 56089357 56089357 C T snp 1035.77 0/1 99 96 51 45 0.47 exonic rs1800974 ITGA7 AR nonsynonymous SNV NM_002206 exon14 c.G1952A p.R651H 0.599441 0.9306 0.451330 0.5854 0.9394 0.53 T 0.0 P -1.002 T 0.001 T 0.002 T CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_multiple_submitters\x2c_no_conflicts;CLNACC=RCV000079979.4;CLNDSDB=MedGen;CLNDSDBID=CN169374 ID=CM067685;DIS=Lung cancer, susceptibility to, association with;TAG=DP;PUB=16741161 DP Pathogenic 12_56089554_T->C 12 56089554 56089554 T C snp 530.77 0/1 99 37 17 20 0.54 intronic rs2293411 ITGA7 AR NM_001144996 exon12 c.10580+133T>C 0.704473 0.9365 Uncertain 12_56090038_C->T 12 56090038 56090038 C T snp 115.77 0/1 99 12 7 5 0.42 intronic rs7974721 ITGA7 AR NM_001144996 exon13 c.11225-28C>T 0.60603 0.9296 0.445810 0.6034 0.9305 Uncertain 12_56091617_A->G 12 56091617 56091617 A G snp 2653.77 0/1 99 250 138 112 0.45 intronic rs2293412 ITGA7 AR NM_001144996 exon17 c.12765+11A>G 0.702676 0.9355 0.564816 0.6206 0.9483 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000079975.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 12_56093817_T->G 12 56093817 56093817 T G snp 416.77 0/1 99 36 20 16 0.44 intronic rs11171660 ITGA7 AR NM_002206 exon21 c.14932+44T>G 0.809105 0.9375 0.675534 0.6811 0.9486 Uncertain 12_56095368_T->- 12 56095368 56095368 T - indel 95.73 0/1 99 23 10 13 0.57 intronic rs11356595 ITGA7 AR NM_001144997 exon23 c.16359+168delT Uncertain 12_56096816_T->C 12 56096816 56096816 T C snp 2212.77 0/1 99 190 92 98 0.52 intronic rs2293413 ITGA7 AR NM_001144996 exon24 c.17993-18T>C 0.612021 0.9296 0.463709 0.5902 0.9394 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000079988.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 12_56115785_C->T 12 56115785 56115785 C T snp 176.77 0/1 99 24 16 8 0.33 ncRNA_intronic rs3138140 BLOC1S1-RDH5 AU 0.21865 0.1786 0.1495 0.1764 Uncertain 12_56137163_G->C 12 56137163 56137163 G C snp 103.77 0/1 99 21 15 6 0.29 exonic rs766687970 GDF11 AU synonymous SNV NM_005811 exon1 c.G63C p.R21R 0 . Uncertain 12_56220975_A->- 12 56220975 56220975 A - indel 241.74 1/1 27 18 2 16 0.89 intronic rs556233298 DNAJC14 AU NM_032364 exon6 c.5275-60delA 0.573882 0.6032 Uncertain 12_56236043_G->A 12 56236043 56236043 G A snp 672.77 1/1 51 24 0 24 1.0 intronic rs2291268 MMP19 AD NM_002429 exon8 c.5317-93G>A 0.63738 0.6558 Uncertain 12_56236318_T->C 12 56236318 56236318 T C snp 502.77 1/1 39 15 0 15 1.0 intronic rs7310325 MMP19 AD NM_002429 exon8 c.5403+96T>C 0.98742 1 Uncertain 12_56236531_A->G 12 56236531 56236531 A G snp 2246.77 1/1 99 83 0 83 1.0 exonic rs7294345 MMP19 AD synonymous SNV NM_002429 exon1 c.T84C p.P28P 0.992412 1 0.990926 0.9975 1 Uncertain 12_56295545_AAGT->- 12 56295545 56295548 AAGT - indel 1665.73 1/1 75 25 0 25 1.0 UTR3 rs10609680 WIBG AU 0.746805 0.7758 0.743654 Uncertain 12_56295707_T->C 12 56295707 56295707 T C snp 1575.77 0/1 99 135 72 63 0.47 exonic rs116976028 WIBG AU synonymous SNV NM_001143853 exon3 c.A561G p.A187A 0.0107827 0.0466 0.000326 0.0050 0.0523 Uncertain 12_56295734_A->G 12 56295734 56295734 A G snp 3522.77 1/1 99 130 0 130 1.0 exonic rs7302270 WIBG AU synonymous SNV NM_001143853 exon3 c.T534C p.P178P 0.961861 1 0.962776 0.9893 1 Uncertain 12_56298115_T->C 12 56298115 56298115 T C snp 494.77 1/1 39 16 0 16 1.0 intronic rs61956424 WIBG AU NM_001143853 exon2 c.1609+851T>C 0.9998 1 Uncertain 12_56298120_A->G 12 56298120 56298120 A G snp 411.77 1/1 33 14 0 14 1.0 intronic rs61956425 WIBG AU NM_001143853 exon2 c.1609+856A>G 1 1 Uncertain 12_56326494_CA->- 12 56326494 56326495 CA - indel 135.73 0/1 99 18 5 13 0.72 intronic rs57799285 DGKA AU Uncertain 12_56330572_G->A 12 56330572 56330572 G A snp 3361.77 1/1 99 124 0 124 1.0 intronic rs7297871 DGKA AU NM_201445 exon3 c.64+221G>A 0.729233 0.7748 0.8075 0.8057 0.0 P -1.030 T Uncertain 12_56335107_A->G 12 56335107 56335107 A G snp 3018.77 1/1 99 114 0 114 1.0 exonic rs1136082 DGKA AU synonymous SNV NM_001345 exon14 c.A1173G p.Q391Q 0.847644 0.7837 0.853375 0.8145 0.7829 Uncertain 12_56335275_T->C 12 56335275 56335275 T C snp 572.77 0/1 99 45 21 24 0.53 intronic rs148697145 DGKA AU NM_201445 exon16 c.5006-18T>C 0.0105831 0.0456 0.000308 0.0049 0.0518 Uncertain 12_56336173_G->A 12 56336173 56336173 G A snp 122.77 0/1 64 6 2 4 0.67 intronic DGKA AU NM_201445 exon18 c.5760+126G>A Uncertain 12_56348028_G->A 12 56348028 56348028 G A snp 2105.77 1/1 99 80 1 79 0.99 exonic rs1052206 PMEL AU synonymous SNV NM_001200053 exon9 c.C1698T p.N566N 0.719449 0.7748 0.723897 0.7770 0.7767 Uncertain 12_56398454_G->C 12 56398454 56398454 G C snp 3132.77 1/1 99 106 0 106 1.0 exonic rs773115 SUOX AR synonymous SNV NM_000456 exon6 c.G1281C p.S427S 0.752196 0.9355 0.735814 0.8730 0.9303 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000118423.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 12_56417403_T->C 12 56417403 56417403 T C snp 2398.77 1/1 99 89 0 89 1.0 intronic rs2658479 IKZF4 AU NM_022465 exon2 c.2177-51T>C 0.763179 0.9881 0.742444 Uncertain 12_56426577_A->G 12 56426577 56426577 A G snp 1776.77 1/1 99 52 0 52 1.0 intronic rs1619653 IKZF4 AU NM_022465 exon6 c.11217+83A>G 0.928914 1 Uncertain 12_56428344_G->C 12 56428344 56428344 G C snp 4656.77 1/1 99 162 0 162 1.0 intronic rs2452822 IKZF4 AU NM_022465 exon8 c.13077-10G>C 0.928514 1 0.926480 0.9775 1 Uncertain 12_56435929_C->G 12 56435929 56435929 C G snp 5025.77 1/1 99 185 0 185 1.0 UTR5 rs1131017 RPS26 AD 0.555911 0.7897 0.464939 0.6053 0.7905 ID=CR1310395;DIS=Altered translational efficiency;TAG=FP;PUB=23900168 FP Uncertain 12_56436472_T->G 12 56436472 56436472 T G snp 662.77 1/1 48 22 0 22 1.0 intronic rs705706 RPS26 AD NM_001029 exon2 c.436+86T>G 0.929113 1 Uncertain 12_56477694_A->T 12 56477694 56477694 A T snp 1344.77 1/1 96 47 0 47 1.0 intronic rs2271194 ERBB3 AR NM_001982 exon2 c.3602+8A>T 0.592252 0.7808 0.495541 0.6173 0.7859 Uncertain 12_56478658_A->C 12 56478658 56478658 A C snp 740.77 1/1 57 22 0 22 1.0 intronic rs7971751 ERBB3 AR NM_001982 exon3 c.4694-120A>C 0.566693 0.7698 Uncertain 12_56482180_T->G 12 56482180 56482180 T G snp 209.84 1/1 18 6 0 6 1.0 intronic rs2292239 ERBB3 AR NM_001982 exon8 c.8242-146T>G 0.699681 0.7798 Uncertain 12_56488913_G->A 12 56488913 56488913 G A snp 743.77 0/1 99 43 14 29 0.67 intronic rs705708 ERBB3 AR NM_001982 exon16 c.14956-127G>A 0.32528 0.2788 Uncertain 12_56491740_G->C 12 56491740 56491740 G C snp 67.77 0/1 96 14 9 5 0.36 intronic rs76079275 ERBB3 AR NM_001982 exon21 c.17640+16G>C 0.0197684 0.0317 0.005536 0.0137 0.0278 Uncertain 12_56493822_A->C 12 56493822 56493822 A C snp 6315.77 1/1 99 224 0 224 1.0 intronic rs2292238 ERBB3 AR NM_001982 exon25 c.19729+9A>C 0.295128 0.3214 0.335691 0.3612 0.3450 Uncertain 12_56494991_G->A 12 56494991 56494991 G A snp 1807.77 0/1 99 140 69 71 0.51 exonic rs2271189 ERBB3 AR synonymous SNV NM_001982 exon27 c.G3348A p.R1116R 0.252196 0.2887 0.310088 0.3417 0.3193 Uncertain 12_56510452_T->C 12 56510452 56510452 T C snp 2066.77 0/1 99 205 114 91 0.44 UTR5 rs3809132 RPL41 AU 0.0195687 0.0843 ID=COSN164280;OCCURENCE=1(breast) Uncertain 12_56510637_A->G 12 56510637 56510637 A G snp 1590.77 0/1 99 117 60 57 0.49 intronic rs1689512 RPL41 AU NM_001035267 exon1 c.12+54A>G 0.203674 0.0536 0.209155 Uncertain 12_56564057_TTTT->- 12 56564057 56564060 TTTT - indel 2381.73 1/1 99 33 0 33 1.0 intronic rs60041436 SMARCC2 AU NM_003075 exon7 c.6520+65_6520+68delTTTT 0.748003 0.9742 Uncertain 12_56565392_T->G 12 56565392 56565392 T G snp 50.74 1/1 6 2 0 2 1.0 intronic rs7311008 SMARCC2 AU NM_003075 exon9 c.7990-70T>G 0.757987 0.9732 Uncertain 12_56572854_G->C 12 56572854 56572854 G C snp 1337.77 0/1 99 94 41 53 0.56 intronic rs186336285 SMARCC2 AU NM_003075 exon17 c.15368+14G>C 0.00139776 0.005 0.000154 0.0007 0.0069 Uncertain 12_56575742_T->G 12 56575742 56575742 T G snp 2889.77 1/1 99 99 0 99 1.0 intronic rs773644 SMARCC2 AU NM_003075 exon21 c.18315-45T>G 0.939497 1 0.932031 0.9802 1 Uncertain 12_56601237_A->G 12 56601237 56601237 A G snp 1355.77 1/1 99 43 0 43 1.0 intronic rs703823 RNF41 AU NM_001242826 exon2 c.1199-192A>G 0.822284 0.9752 Uncertain 12_56601739_G->T 12 56601739 56601739 G T snp 94.28 1/1 9 3 0 3 1.0 intronic rs773663 RNF41 AU NM_001242826 exon2 c.1303+206G>T 0.863618 1 Uncertain 12_56604417_AT->- 12 56604417 56604418 AT - indel 1198.73 1/1 75 26 0 26 1.0 intronic rs10532115 RNF41 AU NM_001242826 exon4 c.4122+65_4122+66delAT 0.827276 1 Uncertain 12_56604420_T->C 12 56604420 56604420 T C snp 905.77 1/1 66 25 0 25 1.0 intronic rs79677444 RNF41 AU NM_001242826 exon4 c.4122+68T>C 0.827276 1 Uncertain 12_56607927_C->T 12 56607927 56607927 C T snp 2067.77 1/1 99 78 0 78 1.0 intronic rs4759218 RNF41 AU NM_001242826 exon5 c.7624+73C>T 0.774161 0.9742 Uncertain 12_56618098_C->T 12 56618098 56618098 C T snp 263.8 1/1 21 8 0 8 1.0 upstream rs1274494 NABP2 AU 0.788738 0.9772 Uncertain 12_56618122_G->A 12 56618122 56618122 G A snp 151.77 0/1 99 13 7 6 0.46 upstream rs767298711 NABP2 AU Uncertain 12_56625045_T->C 12 56625045 56625045 T C snp 2906.77 1/1 99 96 0 96 1.0 UTR5 rs1274497 SLC39A5 AD 0.989816 1 0.988548 0.9964 1 Uncertain 12_56629276_A->C 12 56629276 56629276 A C snp 860.77 1/1 66 24 0 24 1.0 intronic rs901073 SLC39A5 AD NM_173596 exon8 c.4285-67A>C 0.841853 1 Uncertain 12_56638252_C->T 12 56638252 56638252 C T snp 500.77 0/1 99 44 23 21 0.48 intronic ANKRD52 AU NM_173595 exon4 c.1294+33C>T Uncertain 12_56639231_A->T 12 56639231 56639231 A T snp 859.77 0/1 99 83 48 35 0.42 exonic rs142399243 ANKRD52 AU synonymous SNV NM_173595 exon21 c.T2334A p.L778L 0.00399361 0.0179 0.000318 0.0021 0.0257 Uncertain 12_56647911_G->C 12 56647911 56647911 G C snp 4215.77 1/1 99 155 0 155 1.0 exonic rs808919 ANKRD52 AU synonymous SNV NM_173595 exon8 c.C846G p.S282S 0.804712 0.9643 0.795545 0.9050 0.9724 Uncertain 12_56649601_A->G 12 56649601 56649601 A G snp 856.77 1/1 63 30 0 30 1.0 exonic rs1274490 ANKRD52 AU synonymous SNV NM_173595 exon5 c.T429C p.A143A 0.80631 0.9643 0.794847 0.9105 0.9664 Uncertain 12_56650742_C->T 12 56650742 56650742 C T snp 535.77 1/1 39 19 0 19 1.0 intronic rs1274491 ANKRD52 AU NM_173595 exon25 c.13873-56C>T 1 1 0.999781 Uncertain 12_56717466_C->T 12 56717466 56717466 C T snp 1705.77 1/1 99 58 0 58 1.0 intronic rs773665 PAN2 AU NM_001166279 exon12 c.5990+84C>T 0.802516 0.9643 Uncertain 12_56722060_T->G 12 56722060 56722060 T G snp 2830.77 1/1 99 97 0 97 1.0 exonic rs1918496 PAN2 AU nonsynonymous SNV NM_001127460 exon4 c.A535C p.I179L 0.835863 1 0.826157 0.9502 0.9999 0.62 T 0.0 P -0.975 T 0.001 T 0.005 T Pathogenic 12_56726518_G->A 12 56726518 56726518 G A snp 1298.77 1/1 96 40 0 40 1.0 intronic rs2643626 PAN2 AU NM_001166279 exon25 c.15204-78G>A 0.802716 0.9643 Uncertain 12_56814256_-->GAT 12 56814256 56814256 - GAT indel 1994.73 1/1 72 36 1 35 0.97 intronic rs10631263 TIMELESS AU NM_003920 exon4 c.2853-96insGAT 0.640575 0.3284 Uncertain 12_56814653_G->A 12 56814653 56814653 G A snp 3507.77 1/1 99 116 0 116 1.0 exonic rs2291739 TIMELESS AU nonsynonymous SNV NM_003920 exon25 c.C3053T p.P1018L 0.391573 0.2768 0.488006 0.4924 0.2930 0.06 T 1.000 P -0.871 T 1.0 D 0.977 D Pathogenic 12_56815281_T->C 12 56815281 56815281 T C snp 3809.77 1/1 99 146 0 146 1.0 splicing rs2291738 TIMELESS AU NM_003920 exon7 c.3778+4T>C 0.326478 0.2827 0.385899 0.4292 0.2934 Pathogenic 12_56815922_C->T 12 56815922 56815922 C T snp 1144.77 0/1 99 66 22 44 0.67 exonic rs774047 TIMELESS AU nonsynonymous SNV NM_003920 exon20 c.G2492A p.R831Q 0.498802 0.7371 0.382362 0.4898 0.7395 0.67 T 1.000 P -1.026 T 0.005 T 0.004 T Pathogenic 12_56818887_G->A 12 56818887 56818887 G A snp 1509.77 0/1 99 138 73 65 0.47 exonic rs142476558 TIMELESS AU nonsynonymous SNV NM_003920 exon14 c.C1628T p.A543V 0.000199681 0.001 0.000231 0.0001 0.0003 0.28 T 1.000 D -1.021 T 0.02 T 0.01 T Pathogenic 12_56818982_G->C 12 56818982 56818982 G C snp 1774.77 1/1 99 58 0 58 1.0 intronic rs12824030 TIMELESS AU NM_003920 exon16 c.7437+46G>C 0.964657 1 0.9892 0.9998 Uncertain 12_56818983_-->T 12 56818983 56818983 - T indel 809.73 0/1 99 56 27 29 0.52 intronic rs35382350 TIMELESS AU NM_003920 exon16 c.7437+47insT 0.565296 0.748 0.404105 0.5341 0.7713 Uncertain 12_56821998_A->G 12 56821998 56821998 A G snp 217.77 0/1 99 30 19 11 0.37 intronic rs774026 TIMELESS AU NM_003920 exon17 c.10520-21A>G 0.497005 0.7371 0.383208 0.4955 0.7390 Uncertain 12_56822378_T->A 12 56822378 56822378 T A snp 921.77 0/1 99 93 50 43 0.46 exonic rs774027 TIMELESS AU nonsynonymous SNV NM_003920 exon12 c.A1363T p.I455L 0.506589 0.746 0.391742 0.4941 0.7439 0.3 T 1.000 P -1.060 T 0.0 T 0.002 T Pathogenic 12_56822641_G->C 12 56822641 56822641 G C snp 62.74 1/1 6 4 0 4 1.0 intronic rs774028 TIMELESS AU NM_003920 exon19 c.11167-25G>C 0.964657 1 0.960480 0.9886 0.9999 Uncertain 12_56824163_C->G 12 56824163 56824163 C G snp 218.84 1/1 18 6 0 6 1.0 intronic rs774030 TIMELESS AU NM_003920 exon20 c.12566+98C>G 0.958466 1 Uncertain 12_56825154_A->C 12 56825154 56825154 A C snp 191.8 0/1 21 7 1 6 0.86 intronic rs74240674 TIMELESS AU NM_003920 exon22 c.13755-100A>C Uncertain 12_56825311_C->T 12 56825311 56825311 C T snp 866.77 0/1 99 96 54 42 0.44 exonic rs774033 TIMELESS AU synonymous SNV NM_003920 exon8 c.G765A p.V255V 0.504193 0.7371 0.391819 0.4925 0.7388 Uncertain 12_56825981_A->G 12 56825981 56825981 A G snp 151.77 0/1 99 9 4 5 0.56 intronic rs774039 TIMELESS AU NM_003920 exon23 c.14653-171A>G 0.503994 0.7381 Uncertain 12_56826061_G->A 12 56826061 56826061 G A snp 1400.77 1/1 99 45 0 45 1.0 intronic rs774040 TIMELESS AU NM_003920 exon23 c.14653-91G>A 0.958666 1 Uncertain 12_56826758_-->G 12 56826758 56826758 - G indel 895.73 0/1 99 70 33 37 0.53 intronic rs142212258 TIMELESS AU NM_003920 exon24 c.15310-51insG 0.395367 0.248 Uncertain 12_56827694_C->G 12 56827694 56827694 C G snp 700.77 0/1 99 50 25 25 0.5 exonic rs2279665 TIMELESS AU synonymous SNV NM_003920 exon3 c.G114C p.L38L 0.469449 0.2619 0.577656 0.4985 0.2603 Uncertain 12_56827974_C->T 12 56827974 56827974 C T snp 3317.77 1/1 99 133 0 133 1.0 UTR5 rs2638312 TIMELESS AU 0.968051 1 0.964632 0.9898 0.9999 Uncertain 12_56845296_T->C 12 56845296 56845296 T C snp 575.77 1/1 42 24 0 24 1.0 intronic rs2643622 MIP AU NM_012064 exon1 c.186+47T>C 0.941494 0.998 0.938336 0.9827 0.9962 Uncertain 12_56845303_G->A 12 56845303 56845303 G A snp 201.77 0/1 99 21 10 11 0.52 intronic rs2088155 MIP AU NM_012064 exon1 c.186+54G>A 0.442093 0.3234 Uncertain 12_56845358_T->C 12 56845358 56845358 T C snp 85.77 0/1 59 6 2 4 0.67 intronic rs7953824 MIP AU NM_012064 exon1 c.186+109T>C 0.412141 0.6746 Uncertain 12_56848481_T->C 12 56848481 56848481 T C snp 161.77 0/1 63 7 2 5 0.71 upstream rs2269348 MIP AU 0.411741 0.6746 Uncertain 12_56862886_T->C 12 56862886 56862886 T C snp 2261.77 1/1 99 81 0 81 1.0 exonic rs2657881 SPRYD4 AU nonsynonymous SNV NM_207344 exon2 c.T149C p.M50T 0.988818 1 0.993311 0.9977 0.9999 0.19 T 0.001 P -0.938 T 0.0 T 0.0 T Pathogenic 12_56869577_-->T 12 56869577 56869577 - T indel 926.73 0/1 99 62 31 31 0.5 intronic rs11441969 GLS2 AU NM_013267 exon10 c.4196+111insT 0.509585 0.7421 Uncertain 12_56869949_-->T 12 56869949 56869949 - T indel 183.73 0/1 99 26 10 16 0.62 intronic rs34325581 GLS2 AU NM_013267 exon11 c.4491+188insT 0.510783 0.7391 Uncertain 12_56869972_TTGTCACCC->- 12 56869972 56869980 TTGTCACCC - indel 806.75 1/1 24 14 0 14 1.0 intronic rs398055598 GLS2 AU NM_013267 exon11 c.4491+211_4491+219delTTGTCACCC 0.863618 0.998 Uncertain 12_56871314_G->A 12 56871314 56871314 G A snp 757.77 0/1 99 45 17 28 0.62 intronic rs11171862 GLS2 AU NM_013267 exon12 c.6173-129G>A 0.302117 0.256 Uncertain 12_56872771_AAA->- 12 56872771 56872773 AAA - indel 211.84 1/1 16 12 1 11 0.92 intronic rs773599299 GLS2 AU NM_013267 exon15 c.7565-64_7565-62delAAA Uncertain 12_56915782_G->A 12 56915782 56915782 G A snp 979.77 1/1 75 32 0 32 1.0 UTR5 rs808929 RBMS2 AU 0.996406 0.999 0.996455 0.9987 1 Uncertain 12_56933651_G->A 12 56933651 56933651 G A snp 1883.77 0/1 99 119 41 78 0.66 intronic rs2657902 RBMS2 AU NM_002898 exon1 c.66+17778G>A 0.578275 0.7034 Uncertain 12_56933722_G->A 12 56933722 56933722 G A snp 959.77 0/1 99 49 11 38 0.78 intronic rs2657903 RBMS2 AU NM_002898 exon1 c.66+17849G>A 0.577476 0.7034 Uncertain 12_56956213_T->C 12 56956213 56956213 T C snp 859.77 1/1 63 28 2 26 0.93 exonic rs3759091 RBMS2 AU synonymous SNV NM_002898 exon2 c.T79C p.L27L 0.685703 0.8393 0.691219 0.7914 0.8294 Uncertain 12_56982290_C->T 12 56982290 56982290 C T snp 351.78 1/1 27 9 0 9 1.0 intronic rs2470385 RBMS2 AU NM_002898 exon12 c.66351+132C>T 0.967652 1 Uncertain 12_56992630_C->G 12 56992630 56992630 C G snp 764.77 0/1 99 85 51 34 0.4 intronic rs2242497 BAZ2A AU NM_013449 exon2 c.250-21C>G 0.405351 0.2312 0.450840 0.3605 0.2338 Uncertain 12_56993714_C->T 12 56993714 56993714 C T snp 2440.77 0/1 99 230 120 110 0.48 intronic rs2256341 BAZ2A AU NM_013449 exon5 c.1346-33C>T 0.186901 0.2282 0.213419 0.2205 0.2162 Uncertain 12_57030026_T->C 12 57030026 57030026 T C snp 1590.77 0/1 99 164 93 71 0.43 UTR5 rs2255074 BAZ2A AU 0.397564 0.2569 0.449409 Uncertain 12_57033680_T->A 12 57033680 57033680 T A snp 337.77 0/1 99 21 7 14 0.67 intronic rs12229457 ATP5B AU NM_001686 exon3 c.1657-83T>A 0.258187 0.256 Uncertain 12_57065713_C->T 12 57065713 57065713 C T snp 1220.77 0/1 99 116 58 58 0.5 intronic rs2958154 PTGES3 AU NM_001282602 exon4 c.7369+82C>T 0.738419 0.744 Uncertain 12_57081517_A->G 12 57081517 57081517 A G snp 124.77 0/1 99 15 10 5 0.33 intronic rs2958153 PTGES3 AU NM_001282602 exon7 c.23519-264A>G 0.805312 0.745 Uncertain 12_57106660_A->T 12 57106660 57106660 A T snp 2833.77 0/1 99 250 128 122 0.49 exonic rs4788 NACA AU synonymous SNV NM_001113202 exon7 c.T543A p.I181I 0.795527 0.745 0.763648 0.7733 0.7478 Uncertain 12_57106810_G->A 12 57106810 57106810 G A snp 590.77 0/1 99 65 41 24 0.37 intronic rs898609 NACA AU NM_001113202 exon3 c.524-35G>A 0.607628 0.7401 0.550976 0.6540 0.7436 Uncertain 12_57108203_A->G 12 57108203 57108203 A G snp 2564.77 0/1 99 197 90 107 0.54 exonic rs4902 NACA AU synonymous SNV NM_001113202 exon4 c.T177C p.I59I 0.607628 0.7401 0.550900 0.6537 0.7434 Uncertain 12_57109792_A->G 12 57109792 57109792 A G snp 1433.77 0/1 99 126 63 63 0.5 exonic rs2958149 NACA AU nonsynonymous SNV NM_001113203 exon5 c.T2063C p.L688P 0.809105 0.748 0.774660 0.7774 0.7480 0.71 T 0.981 P -1.001 T 0.0 T 0.0 T Pathogenic 12_57109931_A->T 12 57109931 57109931 A T snp 1164.77 0/1 99 96 45 51 0.53 exonic rs2926747 NACA AU nonsynonymous SNV NM_001113203 exon5 c.T1924A p.S642T 0.648562 0.7421 0.590874 0.6650 0.7399 0.33 T 0.0 P -1.006 T 0.0 T 0.0 T Pathogenic 12_57112637_G->A 12 57112637 57112637 G A snp 477.77 0/1 99 79 52 27 0.34 intronic rs11171951 NACA AU NM_001113203 exon8 c.6999-683G>A 0.605631 0.7401 0.554356 0.6561 0.7428 Uncertain 12_57114100_A->G 12 57114100 57114100 A G snp 2281.77 0/1 99 184 89 95 0.52 exonic rs2926743 NACA AU nonsynonymous SNV NM_001113203 exon3 c.T1214C p.F405S 0.808706 0.745 0.775340 0.7754 0.7469 0 D 0.0 P -1.055 T 0.0 T 0.0 T Pathogenic 12_57114307_A->T 12 57114307 57114307 A T snp 1381.77 0/1 99 127 70 57 0.45 exonic rs2958127 NACA AU nonsynonymous SNV NM_001113203 exon3 c.T1007A p.V336E 0.607827 0.7401 0.557573 0.6536 0.7436 0 D 0.0 P -0.955 T 0.053 T 0.011 T Pathogenic 12_57132187_T->- 12 57132187 57132187 T - indel 1793.73 0/1 99 112 55 57 0.51 intronic rs397792727 PRIM1 AU NM_000946 exon3 c.6719-30delT 0.647764 0.7401 0.589365 0.6775 0.75 Uncertain 12_57133140_T->G 12 57133140 57133140 T G snp 863.77 0/1 99 85 47 38 0.45 exonic rs1131514 PRIM1 AU synonymous SNV NM_000946 exon10 c.A990C p.I330I 0.607628 0.7401 0.560718 0.6816 0.7560 Uncertain 12_57137828_T->A 12 57137828 57137828 T A snp 578.77 0/1 99 67 42 25 0.37 intronic rs1026565 PRIM1 AU NM_000946 exon8 c.12350-20T>A 0.648363 0.7401 0.593399 0.6978 0.7613 Uncertain 12_57140458_ACAA->- 12 57140458 57140461 ACAA - indel 2505.73 0/1 99 105 50 55 0.52 intronic rs149547771 PRIM1 AU NM_000946 exon10 c.15066-106_15066-103delACAA 0.650759 0.7401 ID=COSN168887,COSN168888;OCCURENCE=2(large_intestine) Uncertain 12_57140506_G->A 12 57140506 57140506 G A snp 2573.77 0/1 99 214 102 112 0.52 intronic rs2958130 PRIM1 AU NM_000946 exon10 c.15066-58G>A 0.607827 0.7401 0.552124 Uncertain 12_57180855_C->T 12 57180855 57180855 C T snp 543.77 0/1 99 50 29 21 0.42 intronic rs4277148 HSD17B6 AU NM_003725 exon5 c.13272-53C>T 0.226837 0.2897 Uncertain 12_57323523_A->G 12 57323523 57323523 A G snp 264.8 1/1 21 7 0 7 1.0 intronic rs840161 SDR9C7 AU NM_148897 exon2 c.5721+186A>G 0.788938 0.8452 Uncertain 12_57492745_G->A 12 57492745 57492745 G A snp 2399.77 0/1 99 195 85 110 0.56 intronic rs3024974 STAT6 AU NM_001178079 exon6 c.2443-52G>A 0.129393 0.1984 0.100745 Uncertain 12_57535266_C->T 12 57535266 57535266 C T snp 2320.77 0/1 99 250 144 106 0.42 exonic rs1799986 LRP1 AU synonymous SNV NM_002332 exon3 c.C300T p.D100D 0.0934505 0.0694 0.120867 0.1264 0.0571 ID=CM984153;DIS=Alzheimer's disease, association with;TAG=DP;PUB=9633759 DP Uncertain 12_57581028_C->G 12 57581028 57581028 C G snp 4556.77 1/1 99 156 0 156 1.0 intronic rs6581127 LRP1 AU NM_002332 exon42 c.58302-21C>G 0.97504 1 0.968937 0.9916 1 Uncertain 12_57585144_C->T 12 57585144 57585144 C T snp 4406.77 1/1 99 161 0 161 1.0 exonic rs1800139 LRP1 AU synonymous SNV NM_002332 exon44 c.C7278T p.A2426A 0.536542 0.494 0.567277 0.6256 0.5515 Uncertain 12_57587839_C->T 12 57587839 57587839 C T snp 1469.77 1/1 99 57 0 57 1.0 intronic rs1800187 LRP1 AU NM_002332 exon48 c.65048+44C>T 0.533946 0.5 0.566154 0.6345 0.5671 Uncertain 12_57588049_A->G 12 57588049 57588049 A G snp 635.77 1/1 48 18 0 18 1.0 intronic rs7488264 LRP1 AU NM_002332 exon49 c.65389-87A>G 0.984625 1 Uncertain 12_57589784_A->C 12 57589784 57589784 A C snp 4398.77 1/1 99 155 0 155 1.0 exonic rs7397167 LRP1 AU nonsynonymous SNV NM_002332 exon54 c.A8699C p.Q2900P 0.989816 1 0.989082 0.9970 1 0.39 T 1.0 P -0.942 T 0.0 T 0.0 T Pathogenic 12_57589865_C->T 12 57589865 57589865 C T snp 4614.77 1/1 99 156 0 156 1.0 splicing rs1800189 LRP1 AU NM_002332 exon55 c.67122-4C>T 0.504393 0.501 0.537675 0.6160 0.5554 Pathogenic 12_57590735_T->C 12 57590735 57590735 T C snp 1761.77 1/1 99 53 0 53 1.0 intronic rs7308552 LRP1 AU NM_002332 exon56 c.68017-29T>C 0.984625 1 0.984057 0.9949 0.9996 Uncertain 12_57590869_T->C 12 57590869 57590869 T C snp 7218.77 1/1 99 249 0 249 1.0 exonic rs7308698 LRP1 AU synonymous SNV NM_002332 exon56 c.T8997C p.T2999T 0.984625 1 0.983930 0.9954 0.9999 Uncertain 12_57592557_C->T 12 57592557 57592557 C T snp 3006.77 1/1 99 99 0 99 1.0 intronic rs1800168 LRP1 AU NM_002332 exon60 c.69706+104C>T 0.536142 0.499 Uncertain 12_57593101_G->A 12 57593101 57593101 G A snp 5603.77 1/1 99 211 0 211 1.0 exonic rs1140648 LRP1 AU synonymous SNV NM_002332 exon61 c.G9783A p.T3261T 0.533347 0.5 0.562279 0.6219 0.5536 Uncertain 12_57593894_A->G 12 57593894 57593894 A G snp 349.78 1/1 27 9 0 9 1.0 intronic rs1800159 LRP1 AU NM_002332 exon62 c.71061+86A>G 0.621206 0.4504 Uncertain 12_57602815_C->G 12 57602815 57602815 C G snp 1533.77 1/1 99 51 0 51 1.0 intronic rs7956957 LRP1 AU NM_002332 exon79 c.80118-50C>G 0.507388 0.5 0.532139 0.5928 0.5280 Uncertain 12_57604802_A->G 12 57604802 57604802 A G snp 2352.77 1/1 99 64 0 64 1.0 intronic rs1800164 LRP1 AU NM_002332 exon83 c.81915+140A>G 0.48143 0.502 Uncertain 12_57605168_T->C 12 57605168 57605168 T C snp 3517.77 1/1 99 121 1 120 0.99 intronic rs10783814 LRP1 AU NM_002332 exon84 c.82386+35T>C 0.99361 1 0.994080 0.9980 1 Uncertain 12_57606386_A->G 12 57606386 57606386 A G snp 816.77 1/1 60 27 0 27 1.0 UTR3 rs7304504 LRP1 AU 0.899361 0.8661 0.933742 0.9673 0.8871 Uncertain 12_57614958_G->T 12 57614958 57614958 G T snp 1638.77 1/1 99 63 0 63 1.0 intronic rs7134826 NXPH4 AU NM_007224 exon2 c.7908-3702G>T 0.952676 0.9345 Uncertain 12_57619209_C->G 12 57619209 57619209 C G snp 4810.77 1/1 99 160 0 160 1.0 exonic rs7979061 NXPH4 AU synonymous SNV NM_007224 exon2 c.C606G p.P202P 0.967452 1 0.979409 0.9925 1 Uncertain 12_57627717_G->A 12 57627717 57627717 G A snp 2344.77 0/1 99 199 97 102 0.51 intronic rs34095989 SHMT2 AU NM_001166356 exon10 c.4126+30G>A 0.278155 0.256 0.326849 0.3314 0.2552 Uncertain 12_57639002_G->A 12 57639002 57639002 G A snp 792.77 0/1 99 92 52 40 0.43 intronic rs76823783 STAC3 AR NM_001286257 exon6 c.1400+8G>A 0.0231629 0.0784 0.006997 0.0111 0.0714 Uncertain 12_57639158_-->T 12 57639158 57639158 - T indel 41.73 0/1 51 17 4 13 0.76 intronic rs374655952 STAC3 AR NM_001286257 exon6 c.1400+164insT Uncertain 12_57639190_C->T 12 57639190 57639190 C T snp 161.9 1/1 15 5 0 5 1.0 intronic rs7139342 STAC3 AR NM_001286257 exon6 c.1400+196C>T 0.967252 1 Uncertain 12_57640620_C->T 12 57640620 57640620 C T snp 821.77 0/1 99 92 51 41 0.45 exonic rs76667525 STAC3 AR synonymous SNV NM_145064 exon6 c.G570A p.K190K 0.0231629 0.0784 0.007074 0.0111 0.0713 Uncertain 12_57643318_-->C 12 57643318 57643318 - C indel 540.73 0/1 99 32 12 20 0.63 intronic rs35971501 STAC3 AR NM_145064 exon11 c.5759-35insC 0.368429 0.3888 0.1972 Uncertain 12_57691991_C->- 12 57691991 57691991 C - indel 997.73 1/1 69 24 0 24 1.0 intronic rs34608793 R3HDM2 AU NM_014925 exon18 c.43396+40delC 0.441494 0.501 0.465898 0.4826 0.4477 Uncertain 12_57693060_G->A 12 57693060 57693060 G A snp 2248.77 1/1 99 84 0 84 1.0 intronic rs4760126 R3HDM2 AU NM_014925 exon19 c.44579-74G>A 0.892971 1 Uncertain 12_57696947_A->C 12 57696947 57696947 A C snp 1066.77 0/1 99 126 81 45 0.36 intronic rs79813486 R3HDM2 AU NM_014925 exon21 c.48403-11A>C 0.00559105 0.0278 0.0010 0.0163 Uncertain 12_57703935_G->A 12 57703935 57703935 G A snp 401.77 0/1 99 39 22 17 0.44 intronic rs7139302 R3HDM2 AU NM_014925 exon22 c.55491-111G>A 0.297724 0.2133 Uncertain 12_57704006_A->- 12 57704006 57704006 A - indel 3004.73 1/1 99 115 1 114 0.99 intronic rs398019759 R3HDM2 AU NM_014925 exon22 c.55491-40delA 0.891973 0.999 0.8887 0.9094 Uncertain 12_57843014_C->T 12 57843014 57843014 C T snp 2129.77 1/1 99 75 0 75 1.0 intronic rs776037 INHBC AU NM_005538 exon2 c.14390-45C>T 0.846446 0.9246 0.864524 0.9510 0.9478 Uncertain 12_57845706_G->A 12 57845706 57845706 G A snp 380.77 0/1 99 29 13 16 0.55 UTR3 rs2280139 INHBC AU 0.438099 0.5179 Uncertain 12_57848639_G->A 12 57848639 57848639 G A snp 455.77 0/1 99 54 35 19 0.35 upstream rs3809114 INHBE AU 0.358427 0.2986 Uncertain 12_57848708_C->G 12 57848708 57848708 C G snp 601.77 0/1 99 83 56 27 0.33 upstream rs3809113 INHBE AU 0.415335 0.3085 0.5448 0.3182 Uncertain 12_57849768_C->G 12 57849768 57849768 C G snp 322.77 0/1 99 24 11 13 0.54 intronic rs507562 INHBE AU NM_031479 exon2 c.557-108C>G 0.3752 0.3313 Uncertain 12_57857354_T->C 12 57857354 57857354 T C snp 2001.77 1/1 99 53 0 53 1.0 intronic rs10876987 GLI1 AU 0.570687 0.3978 Uncertain 12_57858414_A->G 12 57858414 57858414 A G snp 3556.77 1/1 99 122 0 122 1.0 intronic rs3817475 GLI1 AU NM_005269 exon4 c.981-41A>G 0.365216 0.3056 0.497693 0.5127 0.3182 Uncertain 12_57858835_G->A 12 57858835 57858835 G A snp 2381.77 1/1 99 92 0 92 1.0 intronic rs3817474 GLI1 AU NM_001160045 exon3 c.247-58G>A 0.363019 0.3046 Uncertain 12_57859431_G->A 12 57859431 57859431 G A snp 5216.77 1/1 99 188 0 188 1.0 exonic rs2228225 GLI1 AU synonymous SNV NM_005269 exon6 c.G576A p.E192E 0.363019 0.3046 0.497616 0.4999 0.3040 Uncertain 12_57859932_G->A 12 57859932 57859932 G A snp 1529.77 1/1 99 46 0 46 1.0 intronic rs2292657 GLI1 AU NM_001160045 exon6 c.1376-90G>A 0.381989 0.3968 Uncertain 12_57865321_G->A 12 57865321 57865321 G A snp 4538.77 1/1 99 163 1 162 0.99 exonic rs2228224 GLI1 AU nonsynonymous SNV NM_005269 exon12 c.G2798A p.G933D 0.364018 0.3036 0.498155 0.5027 0.3053 0.2 T 0.001 P -1.002 T 0.1 T 0.054 T Pathogenic 12_57865821_G->C 12 57865821 57865821 G C snp 3294.77 1/1 99 103 0 103 1.0 exonic rs2228226 GLI1 AU nonsynonymous SNV NM_005269 exon12 c.G3298C p.E1100Q 0.586262 0.3958 0.711825 0.6061 0.3717 0.4 T 0.000 P -1.052 T 0.0 T 0.0 T ID=CM087618;DIS=Inflammatory bowel disease, association with;TAG=DFP;PUB=19071955 DFP Pathogenic 12_57865928_A->C 12 57865928 57865928 A C snp 599.77 1/1 45 19 0 19 1.0 UTR3 rs474058 GLI1 AU 0.990216 1 Uncertain 12_57867726_A->G 12 57867726 57867726 A G snp 99.28 1/1 9 3 0 3 1.0 intronic rs532993 ARHGAP9 AU NM_032496 exon3 c.1525-98A>G 0.990216 1 Uncertain 12_57869241_T->C 12 57869241 57869241 T C snp 1525.77 1/1 99 58 0 58 1.0 intronic rs527226 ARHGAP9 AU NM_032496 exon8 c.2966-24T>C 0.988818 1 0.991381 0.9975 1 Uncertain 12_57869447_T->C 12 57869447 57869447 T C snp 826.77 1/1 60 29 0 29 1.0 intronic rs2277318 ARHGAP9 AU NM_032496 exon8 c.3099+49T>C 0.570887 0.3988 0.695457 0.6006 0.3818 Uncertain 12_57869476_G->A 12 57869476 57869476 G A snp 651.77 1/1 48 21 0 21 1.0 intronic rs2277317 ARHGAP9 AU NM_032496 exon8 c.3099+78G>A 0.588059 0.3988 Uncertain 12_57869486_A->G 12 57869486 57869486 A G snp 565.77 1/1 42 19 0 19 1.0 intronic rs2277316 ARHGAP9 AU NM_032496 exon8 c.3099+88A>G 0.588458 0.3998 Uncertain 12_57869500_A->C 12 57869500 57869500 A C snp 396.77 1/1 30 13 0 13 1.0 intronic rs524522 ARHGAP9 AU NM_032496 exon8 c.3099+102A>C 0.9998 1 Uncertain 12_57869531_A->- 12 57869531 57869531 A - indel 417.73 1/1 33 12 0 12 1.0 intronic rs3216740 ARHGAP9 AU NM_032496 exon9 c.3316-84delA 0.552915 0.3065 0.687500 0.6109 0.3498 Uncertain 12_57869582_T->C 12 57869582 57869582 T C snp 1230.77 1/1 90 39 0 39 1.0 intronic rs2277315 ARHGAP9 AU NM_032496 exon9 c.3316-33T>C 0.590655 0.3978 0.711639 0.6279 0.4248 0.45 T 0.0 P -1.069 T 0.0 T 0.0 T Uncertain 12_57870121_A->C 12 57870121 57870121 A C snp 2113.77 1/1 99 68 0 68 1.0 intronic rs486699 ARHGAP9 AU NM_032496 exon11 c.3847-25A>C 0.867412 0.8532 0.908245 0.9075 0.8426 Uncertain 12_57870155_A->C 12 57870155 57870155 A C snp 3023.77 1/1 99 102 0 102 1.0 exonic rs11544238 ARHGAP9 AU nonsynonymous SNV NM_032496 exon8 c.T1108G p.S370A 0.370208 0.3254 0.489390 0.5086 0.3323 0.18 T 0.0 P -0.948 T 0.0 T 0.002 T CLINSIG=unknown;CLNDBN=Coronary_artery_spasm_3\x2c_susceptibility_to;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000001248.4;CLNDSDB=MedGen;CLNDSDBID=C3149927 ID=CM100499;DIS=Coronary spastic angina, association with;TAG=DFP;PUB=19911011 DFP Pathogenic 12_57870464_G->- 12 57870464 57870464 G - indel 6392.73 1/1 99 155 1 154 0.99 intronic rs10706671 ARHGAP9 AU NM_032496 exon12 c.4135+30delG 0.382188 0.2956 0.526278 0.5330 0.3110 Uncertain 12_57870648_A->G 12 57870648 57870648 A G snp 1260.77 1/1 90 47 0 47 1.0 splicing rs512490 ARHGAP9 AU NM_032496 exon13 c.4354-5A>G 0.846645 0.8611 0.885591 0.9161 0.8549 Pathogenic 12_57871555_A->G 12 57871555 57871555 A G snp 1491.77 1/1 99 55 0 55 1.0 intronic rs3825080 ARHGAP9 AU NM_001080156 exon16 c.5268-12A>G 0.610823 0.7123 0.8060 0.7560 0.000 P -1.013 T Uncertain 12_57883801_G->A 12 57883801 57883801 G A snp 2617.77 1/1 99 88 0 88 1.0 intronic rs899653 MARS AR,AD NM_004990 exon5 c.1881+47G>A 0.627396 0.7232 0.666154 0.7882 0.6940 Uncertain 12_57891804_T->C 12 57891804 57891804 T C snp 1324.77 1/1 96 43 0 43 1.0 intronic rs537161 MARS AR,AD NM_004990 exon8 c.10066-135T>C 0.977636 1 Uncertain 12_57905687_A->G 12 57905687 57905687 A G snp 4679.77 1/1 99 166 0 166 1.0 intronic rs1284467 MARS AR,AD NM_004990 exon12 c.23778+36A>G 0.966653 1 0.970706 0.9914 1 Uncertain 12_57920262_T->G 12 57920262 57920262 T G snp 950.77 1/1 69 31 0 31 1.0 intronic rs2127318 MBD6 AU NM_052897 exon7 c.2262-86T>G 0.627196 0.7232 Uncertain 12_57926791_T->G 12 57926791 57926791 T G snp 3081.77 0/1 99 246 123 123 0.5 exonic rs2292656 DCTN2 AU synonymous SNV NM_001261412 exon9 c.A756C p.A252A 0.0535144 0.255 0.001086 0.0217 0.2382 Uncertain 12_57940749_C->T 12 57940749 57940749 C T snp 1685.77 1/1 99 71 0 71 1.0 intronic rs775325 DCTN2 AU NM_006400 exon14 c.16339-61C>T 0.873802 1 0.890314 Uncertain 12_57958313_A->G 12 57958313 57958313 A G snp 659.77 0/1 99 59 28 31 0.53 intronic rs775322 KIF5A AD NM_004984 exon5 c.14237+22A>G 0.533347 0.7738 0.387206 0.4655 0.7821 Uncertain 12_57968715_C->G 12 57968715 57968715 C G snp 56.74 1/1 6 2 0 2 1.0 intronic rs1678542 KIF5A AD NM_004984 exon16 c.24812-151C>G 0.532548 0.7728 Uncertain 12_57975155_A->C 12 57975155 57975155 A C snp 2199.77 0/1 99 191 95 96 0.5 intronic rs775246 KIF5A AD NM_004984 exon25 c.31143-42A>C 0.203275 0.1935 0.244733 0.2474 0.2036 Uncertain 12_57975570_A->G 12 57975570 57975570 A G snp 393.77 1/1 30 13 0 13 1.0 intronic rs775247 KIF5A AD NM_004984 exon26 c.31598-82A>G 0.990615 1 Uncertain 12_57975910_C->G 12 57975910 57975910 C G snp 182.9 1/1 15 6 0 6 1.0 intronic rs775248 KIF5A AD NM_004984 exon26 c.31681+175C>G 0.214457 0.1935 Uncertain 12_57976168_G->A 12 57976168 57976168 G A snp 86.28 1/1 9 3 0 3 1.0 intronic rs809593 KIF5A AD NM_004984 exon27 c.32330-216G>A 0.890176 1 Uncertain 12_57976647_C->G 12 57976647 57976647 C G snp 93.28 1/1 9 3 0 3 1.0 intronic rs2888334 KIF5A AD NM_004984 exon27 c.32358+235C>G 0.374002 0.5962 Uncertain 12_57977003_C->T 12 57977003 57977003 C T snp 841.77 0/1 99 77 43 34 0.44 splicing rs775249 KIF5A AD NM_004984 exon28 c.32944+5C>T 0.211462 0.1935 0.250654 0.2630 0.2216 ID=CS1213387;DIS=Spastic paraplegia;TAG=R;PUB=22552817 R Pathogenic 12_57977040_C->A 12 57977040 57977040 C A snp 459.77 0/1 99 32 16 16 0.5 intronic rs775250 KIF5A AD NM_004984 exon28 c.32944+42C>A 0.213458 0.1935 Uncertain 12_57994679_C->G 12 57994679 57994679 C G snp 1296.77 0/1 99 127 71 56 0.44 exonic rs2277319 PIP4K2C AU nonsynonymous SNV NM_001146260 exon7 c.C755G p.A252G 0.052516 0.1687 0.016146 0.0220 0.1303 0.41 T 0.327 P -1.042 T 0.002 T 0.009 T Pathogenic 12_57994743_T->G 12 57994743 57994743 T G snp 3616.77 1/1 99 132 0 132 1.0 exonic rs775235 PIP4K2C AU synonymous SNV NM_001146260 exon7 c.T819G p.L273L 0.98123 1 0.982777 0.9947 1 0.02 T 1.000 P -0.840 T Likely benign 12_57995089_T->C 12 57995089 57995089 T C snp 2686.77 1/1 99 101 0 101 1.0 exonic rs812873 PIP4K2C AU synonymous SNV NM_001146260 exon8 c.T999C p.A333A 0.910144 1 0.906197 0.9731 0.9999 Uncertain 12_57995183_-->AG 12 57995183 57995183 - AG indel 1920.73 0/1 99 79 29 50 0.63 intronic rs111953969 PIP4K2C AU NM_024779 exon9 c.10059+52insAG 0.052516 0.1687 0.016054 0.0220 0.1294 Uncertain 12_58000378_G->A 12 58000378 58000378 G A snp 2770.77 1/1 99 99 0 99 1.0 intronic rs703834 DTX3 AU NM_178502 exon4 c.1+77G>A 0.908946 1 0.914586 Uncertain 12_58003922_G->A 12 58003922 58003922 G A snp 488.77 1/1 36 16 0 16 1.0 upstream;downstream rs10437954 ARHGEF25;DTX3 UN 0.800519 0.881 Uncertain 12_58004563_C->G 12 58004563 58004563 C G snp 53.77 0/1 82 21 17 4 0.19 intronic rs7314872 ARHGEF25 AU NM_001111270 exon2 c.468+96C>G 0.204673 0.1657 Uncertain 12_58005682_G->A 12 58005682 58005682 G A snp 776.77 0/1 99 76 42 34 0.45 exonic rs60586224 ARHGEF25 AU nonsynonymous SNV NM_182947 exon1 c.G5A p.R2Q 0.203674 0.1657 0.241437 0.3223 0.2423 0.03 T 0.031 P -1.037 T 0.983 D 0.885 D Pathogenic 12_58007678_G->A 12 58007678 58007678 G A snp 241.77 0/1 99 23 12 11 0.48 intronic rs7305391 ARHGEF25 AU NM_001111270 exon7 c.3799-120G>A 0.136182 0.1716 Uncertain 12_58008952_C->T 12 58008952 58008952 C T snp 2020.77 1/1 99 64 0 64 1.0 intronic rs703833 ARHGEF25 AU NM_001111270 exon12 c.5020-67C>T 0.919728 1 Uncertain 12_58009202_T->C 12 58009202 58009202 T C snp 1255.77 0/1 99 132 78 54 0.41 intronic rs2277322 ARHGEF25 AU NM_001111270 exon13 c.5295-92T>C 0.432109 0.5754 Uncertain 12_58010163_A->G 12 58010163 58010163 A G snp 1208.77 0/1 99 119 64 55 0.46 exonic rs1564374 ARHGEF25 AU nonsynonymous SNV NM_182947 exon14 c.A1517G p.Q506R 0.630192 0.7222 0.553898 0.6254 0.7731 1 T 0.0 P -0.959 T 0.0 T 0.0 T Pathogenic 12_58010286_G->A 12 58010286 58010286 G A snp 649.77 0/1 99 68 38 30 0.44 intronic rs771065378 ARHGEF25 AU NM_001111270 exon15 c.6279+8G>A 1.694e-05 0 Uncertain 12_58013175_G->A 12 58013175 58013175 G A snp 155.77 0/1 99 22 15 7 0.32 ncRNA_intronic rs2277324 LOC101927583 AU 0.259185 0.2768 Uncertain 12_58015494_G->A 12 58015494 58015494 G A snp 1443.77 0/1 99 111 47 64 0.58 exonic rs923828 SLC26A10 AU nonsynonymous SNV NM_133489 exon4 c.G577A p.A193T 0.265176 0.2778 0.350092 0.4373 0.3168 0.25 T 0.263 P -1.169 T 0.734 T 0.501 P Pathogenic 12_58017701_T->G 12 58017701 58017701 T G snp 2947.77 0/1 99 220 91 129 0.59 splicing rs7314152 SLC26A10 AU NM_133489 exon8 c.3693+5T>G 0.466853 0.5883 0.352914 0.4068 0.6340 Pathogenic 12_58018979_C->T 12 58018979 58018979 C T snp 1838.77 0/1 99 144 73 71 0.49 intronic rs1871417 SLC26A10 AU NM_133489 exon12 c.5015-39C>T 0.463259 0.5804 0.351453 0.4035 0.6283 Uncertain 12_58019472_T->G 12 58019472 58019472 T G snp 3248.77 1/1 99 119 0 119 1.0 exonic rs774895 SLC26A10 AU nonsynonymous SNV NM_133489 exon14 c.T1636G p.L546V 0.959265 1 0.960172 0.9878 1 0.29 T 1.000 P -0.988 T 0.0 T 0.0 T Pathogenic 12_58021725_G->A 12 58021725 58021725 G A snp 99.28 1/1 9 3 0 3 1.0 intronic rs74850490 B4GALNT1 AR NM_001478 exon2 c.1115+84G>A 0.00579073 0.0288 Uncertain 12_58026001_G->A 12 58026001 58026001 G A snp 1633.77 0/1 99 122 55 67 0.55 intronic rs2307095 B4GALNT1 AR NM_001478 exon10 c.5390+85G>A 0.272364 0.2768 0.3336 0.2895 Uncertain 12_58089413_A->T 12 58089413 58089413 A T snp 1553.77 0/1 99 133 69 64 0.48 intronic rs3825078 OS9 AU NM_001261422 exon3 c.1618-149A>T 0.471845 0.3909 Uncertain 12_58090240_C->G 12 58090240 58090240 C G snp 66.77 0/1 95 28 22 6 0.21 intronic rs56831005 OS9 AU NM_001261420 exon5 c.2212+84C>G 0.40595 0.3522 Uncertain 12_58090246_C->- 12 58090246 58090246 C - indel 318.73 0/1 99 26 12 14 0.54 intronic rs67496996 OS9 AU NM_001261420 exon5 c.2212+90delC Uncertain 12_58090301_G->A 12 58090301 58090301 G A snp 181.77 0/1 94 12 5 7 0.58 intronic rs12426511 OS9 AU NM_001261420 exon5 c.2212+145G>A 0.244808 0.4425 Uncertain 12_58110062_-->G 12 58110062 58110062 - G indel 149.73 0/1 99 15 7 8 0.53 intronic rs141328077 OS9 AU NM_001261422 exon6 c.22032+86insG 0.102835 0.0595 Uncertain 12_58112189_A->G 12 58112189 58112189 A G snp 234.77 0/1 99 23 12 11 0.48 exonic rs799265 OS9 AU synonymous SNV NM_001261421 exon10 c.A1299G p.E433E 0.345447 0.2698 0.423266 0.3813 0.2219 Uncertain 12_58124534_C->G 12 58124534 58124534 C G snp 386.77 0/1 99 32 18 14 0.44 intronic rs2301551 AGAP2 AU NM_014770 exon8 c.4239-39C>G 0.271965 0.4722 0.219053 0.3089 0.5050 Uncertain 12_58124803_C->T 12 58124803 58124803 C T snp 992.77 1/1 75 33 0 33 1.0 intronic rs238523 AGAP2 AU NM_014770 exon8 c.4402+67C>T 0.973842 1 Uncertain 12_58127766_T->C 12 58127766 58127766 T C snp 591.77 1/1 45 15 0 15 1.0 intronic rs238526 AGAP2 AU NM_014770 exon14 c.7474-42T>C 0.990216 1 0.989697 0.9969 1 Uncertain 12_58129302_-->C 12 58129302 58129302 - C indel 198.75 1/1 24 11 0 11 1.0 intronic rs148173870 AGAP2 AU NM_014770 exon17 c.8876+92insC 0.282748 0.5317 Uncertain 12_58135659_T->C 12 58135659 58135659 T C snp 3174.77 1/1 99 108 0 108 1.0 intronic rs238530 AGAP2 AU NM_014770 exon18 c.15360-35T>C 0.990415 1 0.989543 0.9970 1 Uncertain 12_58142854_C->A 12 58142854 58142854 C A snp 1020.77 0/1 99 77 40 37 0.48 intronic rs2069506 CDK4 AD NM_000075 exon2 c.657-110C>A 0.336262 0.6458 Uncertain 12_58144665_C->T 12 58144665 58144665 C T snp 1105.77 0/1 99 84 42 42 0.5 intronic rs2069502 CDK4 AD NM_000075 exon5 c.2398-40C>T 0.336661 0.6409 0.239582 0.3541 0.6407 Uncertain 12_58145156_C->T 12 58145156 58145156 C T snp 598.77 0/1 99 54 28 26 0.48 intronic rs2270777 CDK4 AD NM_000075 exon6 c.2818+31C>T 0.248003 0.1776 0.347839 0.3392 0.1568 Uncertain 12_58149446_C->T 12 58149446 58149446 C T snp 254.8 1/1 21 8 0 8 1.0 exonic rs1689582 MARCH9 AU synonymous SNV NM_138396 exon1 c.C135T p.G45G 0.926318 0.998 0.9599 1 Uncertain 12_58150990_CA->- 12 58150990 58150991 CA - indel 1656.73 1/1 99 42 0 42 1.0 intronic rs35101706 MARCH9 AU NM_138396 exon2 c.1556+123_1556+124delCA 0.928914 0.997 Uncertain 12_58157988_A->G 12 58157988 58157988 A G snp 747.77 0/1 99 63 34 29 0.46 intronic rs4646536 CYP27B1 AR NM_000785 exon3 c.1035+29A>G 0.409545 0.6458 0.302706 0.3815 0.6390 Uncertain 12_58163305_T->- 12 58163305 58163305 T - indel 3724.73 0/1 99 250 149 101 0.4 intronic rs3216815 METTL1 AU NM_023033 exon3 c.240-42delT 0.263778 0.4563 0.205990 0.2861 0.4479 ID=COSN168889;OCCURENCE=1(large_intestine) Uncertain 12_58165085_C->T 12 58165085 58165085 C T snp 746.77 0/1 99 84 49 35 0.42 intronic rs10877013 METTL1 AU NM_023033 exon4 c.1933+45C>T 0.415136 0.6627 0.302860 0.3822 0.6558 ID=CR130244;DIS=Multiple sclerosis, association with;TAG=DFP;PUB=23160276 DFP Uncertain 12_58166403_T->G 12 58166403 58166403 T G snp 184.77 0/1 52 8 2 6 0.75 UTR5 rs2291617 METTL21B AU 0.376597 0.6478 Uncertain 12_58174306_T->C 12 58174306 58174306 T C snp 2144.77 0/1 99 135 56 79 0.59 exonic rs923829 METTL21B AU synonymous SNV NM_015433 exon3 c.T558C p.H186H 0.404153 0.6468 0.290097 0.3789 0.6395 Uncertain 12_58176614_T->C 12 58176614 58176614 T C snp 2667.77 0/1 99 211 95 116 0.55 exonic rs10747783 TSFM AR synonymous SNV NM_001172696 exon1 c.T30C p.F10F 0.363019 0.6468 0.246651 0.4674 0.6884 Uncertain 12_58177380_T->- 12 58177380 58177380 T - indel 364.73 0/1 99 79 28 51 0.65 intronic rs397851154 TSFM AR NM_001172695 exon2 c.482+314delT 0.427915 0.6488 0.4419 0.4769 Uncertain 12_58177437_C->T 12 58177437 58177437 C T snp 326.77 0/1 99 41 26 15 0.37 intronic rs2014886 TSFM AR NM_001172695 exon2 c.482+371C>T 0.339457 0.6438 0.4329 0.6146 0.000 P ID=CS1314707;DIS=Altered splicing;TAG=FP;PUB=24044605 FP Uncertain 12_58177943_G->A 12 58177943 58177943 G A snp 867.77 0/1 99 48 18 30 0.63 intronic rs1599932 TSFM AR NM_001172695 exon2 c.482+877G>A 0.340655 0.6438 0.4312 0.6288 0.01 T 0.0 P -0.963 T 0.022 T 0.002 T Uncertain 12_58186595_A->G 12 58186595 58186595 A G snp 48.74 1/1 6 2 0 2 1.0 intronic rs4631925 TSFM AR NM_001172696 exon6 c.10184-173A>G 0.701478 0.8968 Uncertain 12_58193448_T->C 12 58193448 58193448 T C snp 151.77 0/1 99 11 5 6 0.55 intronic rs11172344 AVIL AU NM_006576 exon2 c.1913-129T>C 0.403754 0.6468 Uncertain 12_58196447_G->A 12 58196447 58196447 G A snp 2394.77 0/1 99 222 120 102 0.46 intronic rs10783847 AVIL AU NM_006576 exon4 c.4467+316G>A 0.404353 0.6468 0.4730 0.6333 Uncertain 12_58196528_G->A 12 58196528 58196528 G A snp 444.77 0/1 99 39 23 16 0.41 intronic rs10783848 AVIL AU NM_006576 exon4 c.4467+397G>A 0.403754 0.6468 Uncertain 12_58202419_C->A 12 58202419 58202419 C A snp 31.77 0/1 60 6 4 2 0.33 intronic rs2277326 AVIL AU NM_006576 exon11 c.10667+88C>A 0.21865 0.2232 Uncertain 12_58203354_C->T 12 58203354 58203354 C T snp 2664.77 0/1 99 250 140 110 0.44 intronic rs3825079 AVIL AU NM_006576 exon12 c.11715-25C>T 0.33746 0.6349 0.238890 0.3529 0.6281 Uncertain 12_58204283_T->C 12 58204283 58204283 T C snp 1859.77 1/1 99 63 0 63 1.0 exonic rs2172521 AVIL AU nonsynonymous SNV NM_006576 exon6 c.A610G p.K204E 0.9998 1 1.0000 1 0.37 T 0.000 P -0.959 T 0.0 T 0.001 T Pathogenic 12_58208164_G->A 12 58208164 58208164 G A snp 623.77 0/1 99 51 27 24 0.47 intronic rs1021469 AVIL AU NM_006576 exon18 c.16345+155G>A 0.35643 0.629 Uncertain 12_58217324_G->A 12 58217324 58217324 G A snp 522.77 0/1 99 69 45 24 0.35 UTR3 rs75590653 CTDSP2 AU Uncertain 12_58217345_G->A 12 58217345 58217345 G A snp 876.77 0/1 99 103 63 40 0.39 UTR3 rs77928566 CTDSP2 AU 9.008e-06 0 Uncertain 12_58217356_G->T 12 58217356 58217356 G T snp 888.77 0/1 99 121 78 43 0.36 UTR3 rs76037237 CTDSP2 AU Uncertain 12_58217364_G->A 12 58217364 58217364 G A snp 868.77 0/1 99 127 85 42 0.33 UTR3 CTDSP2 AU Uncertain 12_58217366_C->T 12 58217366 58217366 C T snp 830.77 0/1 99 130 88 42 0.32 UTR3 rs758621065 CTDSP2 AU 5.32e-05 0 Uncertain 12_58217370_T->G 12 58217370 58217370 T G snp 800.77 0/1 99 144 101 43 0.3 UTR3 CTDSP2 AU Uncertain 12_58217380_G->A 12 58217380 58217380 G A snp 372.77 0/1 99 161 135 26 0.16 UTR3 CTDSP2 AU Uncertain 12_58217381_C->A 12 58217381 58217381 C A snp 775.77 0/1 99 160 119 41 0.26 UTR3 CTDSP2 AU Uncertain 12_58217396_G->A 12 58217396 58217396 G A snp 592.77 0/1 99 168 131 37 0.22 exonic rs745742336 CTDSP2 AU nonsynonymous SNV NM_005730 exon8 c.C805T p.R269W 8.588e-06 0 0 D 1.000 D -0.748 T 1.0 D 0.992 D Pathogenic 12_58217398_A->T 12 58217398 58217398 A T snp 582.77 0/1 99 172 136 36 0.21 exonic CTDSP2 AU nonsynonymous SNV NM_005730 exon8 c.T803A p.L268Q 0.61 T 1.000 D -1.081 T 0.198 T 0.108 T Pathogenic 12_58217412_G->A 12 58217412 58217412 G A snp 560.77 0/1 99 182 144 38 0.21 exonic rs113750199 CTDSP2 AU synonymous SNV NM_005730 exon8 c.C789T p.T263T Uncertain 12_58217421_G->A 12 58217421 58217421 G A snp 267.77 0/1 99 195 170 25 0.13 exonic rs768899988 CTDSP2 AU synonymous SNV NM_005730 exon8 c.C780T p.D260D 8.439e-06 0 Uncertain 12_58217422_T->C 12 58217422 58217422 T C snp 471.77 0/1 99 194 158 36 0.19 exonic CTDSP2 AU nonsynonymous SNV NM_005730 exon8 c.A779G p.D260G 0 D 1 D -0.082 T 0.855 T 0.877 P Pathogenic 12_58217433_G->A 12 58217433 58217433 G A snp 37.77 0/1 66 190 171 19 0.1 exonic rs762231419 CTDSP2 AU synonymous SNV NM_005730 exon8 c.C768T p.S256S 1.68e-05 0.0001 Uncertain 12_58217696_G->T 12 58217696 58217696 G T snp 574.77 0/1 99 137 105 32 0.23 exonic CTDSP2 AU synonymous SNV NM_005730 exon7 c.C681A p.P227P Uncertain 12_58217698_G->T 12 58217698 58217698 G T snp 629.77 0/1 99 140 106 34 0.24 exonic CTDSP2 AU nonsynonymous SNV NM_005730 exon7 c.C679A p.P227T 0.01 T 1 D -0.418 T 1.0 D 0.998 D Pathogenic 12_58217705_T->G 12 58217705 58217705 T G snp 871.77 0/1 99 152 111 41 0.27 exonic rs78662830 CTDSP2 AU synonymous SNV NM_005730 exon7 c.A672C p.I224I ID=COSM4147352;OCCURENCE=1(thyroid) Likely pathogenic 12_58217741_C->T 12 58217741 58217741 C T snp 1865.77 0/1 99 229 133 96 0.42 exonic rs74568739 CTDSP2 AU synonymous SNV NM_005730 exon7 c.G636A p.K212K 1 D Uncertain 12_58217744_T->C 12 58217744 58217744 T C snp 1835.77 0/1 99 229 133 96 0.42 exonic rs79510860 CTDSP2 AU synonymous SNV NM_005730 exon7 c.A633G p.R211R 1 D -0.923 T Likely benign 12_58217762_G->A 12 58217762 58217762 G A snp 1966.77 0/1 99 250 139 111 0.44 exonic CTDSP2 AU synonymous SNV NM_005730 exon7 c.C615T p.R205R 1 D -0.909 T Likely benign 12_58217763_C->T 12 58217763 58217763 C T snp 1890.77 0/1 99 250 144 106 0.42 exonic CTDSP2 AU nonsynonymous SNV NM_005730 exon7 c.G614A p.R205H 0 D 1 D -1.046 T 0.992 D 0.747 D Pathogenic 12_58217770_G->T 12 58217770 58217770 G T snp 392.77 0/1 99 249 191 58 0.23 exonic CTDSP2 AU nonsynonymous SNV NM_005730 exon7 c.C607A p.L203I 0 D 1 D 0.226 D 1.0 D 1.0 D Pathogenic 12_58217774_C->A 12 58217774 58217774 C A snp 664.77 0/1 99 250 197 53 0.21 exonic rs113792624 CTDSP2 AU nonsynonymous SNV NM_005730 exon7 c.G603T p.K201N 0 D 1 D 0.501 D 1.0 D 1.0 D Pathogenic 12_58217780_G->A 12 58217780 58217780 G A snp 2002.77 0/1 99 249 137 112 0.45 exonic rs111421573 CTDSP2 AU synonymous SNV NM_005730 exon7 c.C597T p.Y199Y 8.326e-06 0.0001 1 D -0.467 T Likely benign 12_58220634_A->G 12 58220634 58220634 A G snp 423.77 0/1 99 26 10 16 0.62 intronic CTDSP2 AU NM_005730 exon5 c.3394-144A>G Uncertain 12_58220784_A->T 12 58220784 58220784 A T snp 987.77 0/1 99 250 193 57 0.23 exonic rs113533986 CTDSP2 AU nonsynonymous SNV NM_005730 exon4 c.T349A p.F117I 0 D 1 D 0.391 D 0.997 D 0.965 D Pathogenic 12_58220809_G->C 12 58220809 58220809 G C snp 4011.77 0/1 99 250 71 179 0.72 exonic rs78691025 CTDSP2 AU synonymous SNV NM_005730 exon4 c.C324G p.L108L 1 D -0.821 T Likely benign 12_58220811_G->T 12 58220811 58220811 G T snp 933.77 0/1 99 250 193 57 0.23 exonic CTDSP2 AU nonsynonymous SNV NM_005730 exon4 c.C322A p.L108I 0 D 1 D 0.170 D 1.0 D 0.999 D Pathogenic 12_58220816_A->G 12 58220816 58220816 A G snp 4230.77 0/1 99 248 71 177 0.71 exonic rs76940645 CTDSP2 AU nonsynonymous SNV NM_005730 exon4 c.T317C p.I106T 8.282e-06 0 0 D 1 D -0.733 T 0.845 T 0.766 P Pathogenic 12_58220819_A->G 12 58220819 58220819 A G snp 1183.77 0/1 99 249 187 62 0.25 exonic CTDSP2 AU nonsynonymous SNV NM_005730 exon4 c.T314C p.V105A 0 D 1 D -0.146 T 0.845 T 0.766 P Pathogenic 12_58220823_C->T 12 58220823 58220823 C T snp 4201.77 0/1 99 250 74 176 0.7 exonic rs111346934 CTDSP2 AU nonsynonymous SNV NM_005730 exon4 c.G310A p.V104M 0 D 1 D -1.137 T 0.5 P 0.316 P Pathogenic 12_58220827_G->C 12 58220827 58220827 G C snp 292.77 0/1 99 247 216 31 0.13 exonic CTDSP2 AU nonsynonymous SNV NM_005730 exon4 c.C306G p.I102M 0.08 T 1 D -0.849 T 0.743 T 0.911 P Pathogenic 12_58220830_C->T 12 58220830 58220830 C T snp 282.77 0/1 99 250 220 30 0.12 exonic CTDSP2 AU synonymous SNV NM_005730 exon4 c.G303A p.R101R 1 D -0.802 T Likely benign 12_58220831_C->G 12 58220831 58220831 C G snp 371.77 0/1 99 249 194 55 0.22 exonic CTDSP2 AU nonsynonymous SNV NM_005730 exon4 c.G302C p.R101T 0 D 1 D -1.004 T 0.68 T 0.473 P Pathogenic 12_58220841_C->T 12 58220841 58220841 C T snp 4335.77 0/1 99 240 66 174 0.72 exonic rs74343811 CTDSP2 AU nonsynonymous SNV NM_005730 exon4 c.G292A p.D98N 0.2 T 1 D -0.271 T 0.94 T 0.792 D ID=COSM4147353;OCCURENCE=1(thyroid) Pathogenic 12_58220844_C->T 12 58220844 58220844 C T snp 4388.77 0/1 99 240 67 173 0.72 exonic rs75591888 CTDSP2 AU nonsynonymous SNV NM_005730 exon4 c.G289A p.E97K 8.282e-06 0 0.66 T 1 D -1.090 T 0.0 T 0.0 T ID=COSM4147354;OCCURENCE=2(thyroid) Pathogenic 12_58220866_G->A 12 58220866 58220866 G A snp 160.77 0/1 99 224 203 21 0.09 exonic CTDSP2 AU synonymous SNV NM_005730 exon4 c.C267T p.C89C 1 D -0.788 T Likely benign 12_58220872_C->T 12 58220872 58220872 C T snp 2516.77 0/1 99 221 115 106 0.48 exonic rs76678169 CTDSP2 AU synonymous SNV NM_005730 exon4 c.G261A p.G87G 1 D -1.014 T Likely benign 12_58240165_G->A 12 58240165 58240165 G A snp 896.77 0/1 99 231 184 47 0.2 exonic CTDSP2 AU synonymous SNV NM_005730 exon1 c.C54T p.L18L Uncertain 12_58240168_C->G 12 58240168 58240168 C G snp 959.77 0/1 99 232 184 48 0.21 exonic CTDSP2 AU synonymous SNV NM_005730 exon1 c.G51C p.V17V Uncertain 12_58240177_G->A 12 58240177 58240177 G A snp 1076.77 0/1 99 239 181 58 0.24 exonic rs112505351 CTDSP2 AU synonymous SNV NM_005730 exon1 c.C42T p.D14D Uncertain 12_58240188_G->A 12 58240188 58240188 G A snp 1214.77 0/1 99 223 165 58 0.26 exonic CTDSP2 AU nonsynonymous SNV NM_005730 exon1 c.C31T p.R11W 0 D 1 D -1.040 T 0.979 D 0.462 D Pathogenic 12_58240189_C->T 12 58240189 58240189 C T snp 1227.77 0/1 99 222 162 60 0.27 exonic rs758249968 CTDSP2 AU synonymous SNV NM_005730 exon1 c.G30A p.A10A Uncertain 12_58240210_G->T 12 58240210 58240210 G T snp 1287.77 0/1 99 210 142 68 0.32 exonic rs74554628 CTDSP2 AU nonsynonymous SNV NM_005730 exon1 c.C9A p.H3Q 0.2 T 1 D -1.029 T 0.515 P 0.111 P Pathogenic 12_58240229_C->T 12 58240229 58240229 C T snp 259.77 0/1 99 144 121 23 0.16 UTR5 CTDSP2 AU Uncertain 12_58240231_C->A 12 58240231 58240231 C A snp 229.77 0/1 99 137 115 22 0.16 UTR5 CTDSP2 AU Uncertain 12_58240237_C->T 12 58240237 58240237 C T snp 160.77 0/1 99 129 108 21 0.16 UTR5 rs776748087 CTDSP2 AU 4.6e-05 0 Uncertain 12_58240250_C->T 12 58240250 58240250 C T snp 269.77 0/1 99 113 91 22 0.19 UTR5 CTDSP2 AU Uncertain 12_58240255_G->A 12 58240255 58240255 G A snp 281.77 0/1 99 101 79 22 0.22 UTR5 CTDSP2 AU Uncertain 12_58240259_G->T 12 58240259 58240259 G T snp 173.77 0/1 99 94 76 18 0.19 UTR5 CTDSP2 AU Uncertain 12_58240263_G->A 12 58240263 58240263 G A snp 122.77 0/1 99 91 74 17 0.19 UTR5 CTDSP2 AU Uncertain 12_58240264_G->A 12 58240264 58240264 G A snp 126.77 0/1 99 89 72 17 0.19 UTR5 CTDSP2 AU Uncertain 12_58240267_G->A 12 58240267 58240267 G A snp 215.77 0/1 99 86 67 19 0.22 UTR5 CTDSP2 AU Uncertain 12_58240271_G->T 12 58240271 58240271 G T snp 176.77 0/1 99 82 63 19 0.23 UTR5 CTDSP2 AU Uncertain 12_58240278_G->A 12 58240278 58240278 G A snp 214.77 0/1 99 65 46 19 0.29 UTR5 CTDSP2 AU Uncertain 12_58335626_A->T 12 58335626 58335626 A T snp 3240.77 1/1 99 114 0 114 1.0 exonic rs3751325 XRCC6BP1 AU nonsynonymous SNV NM_033276 exon1 c.A142T p.S48C 0.332268 0.6429 0.253642 0.3589 0.6731 0.18 T 0.0 P -0.965 T 0.369 T 0.112 T Pathogenic 12_58350631_C->T 12 58350631 58350631 C T snp 3149.77 1/1 99 112 0 112 1.0 exonic rs10122 XRCC6BP1 AU synonymous SNV NM_033276 exon6 c.C699T p.H233H 0.551717 0.7262 0.427106 0.4689 0.7533 Uncertain 12_59197223_A->G 12 59197223 59197223 A G snp 312.78 1/1 24 13 0 13 1.0 ncRNA_intronic rs1148531 LOC100506869 AU 0.970847 0.9593 Uncertain 12_60127590_A->T 12 60127590 60127590 A T snp 1386.77 1/1 99 46 0 46 1.0 intronic rs2706309 SLC16A7 AU NM_001270623 exon3 c.217+28791A>T 0.433906 0.3413 0.4098 0.3209 Uncertain 12_60127612_G->A 12 60127612 60127612 G A snp 1163.77 1/1 84 41 0 41 1.0 intronic rs2711672 SLC16A7 AU NM_001270623 exon3 c.217+28813G>A 0.434105 0.3413 0.4109 0.3209 Uncertain 12_60129896_A->T 12 60129896 60129896 A T snp 444.77 1/1 36 15 0 15 1.0 intronic rs2706306 SLC16A7 AU NM_001270623 exon3 c.217+31097A>T 0.403754 0.3413 Uncertain 12_60161941_-->A 12 60161941 60161941 - A indel 2572.73 1/1 99 71 0 71 1.0 intronic rs35166468 SLC16A7 AU NM_001270623 exon4 c.66417-3058insA 0.263778 0.3175 0.2405 0.3182 Uncertain 12_60165271_A->G 12 60165271 60165271 A G snp 99.28 1/1 9 3 0 3 1.0 intronic rs2711659 SLC16A7 AU NM_001270623 exon4 c.66561+128A>G 0.468051 0.3433 Uncertain 12_60173356_A->T 12 60173356 60173356 A T snp 5863.77 1/1 99 214 0 214 1.0 exonic rs3763980 SLC16A7 AU nonsynonymous SNV NM_004731 exon5 c.A1333T p.T445S 0.245008 0.3175 0.229817 0.2338 0.3089 0.0 P -0.933 T 0.0 T 0.002 T Pathogenic 12_62261077_-->A 12 62261077 62261077 - A indel 345.73 0/1 99 65 39 26 0.4 intronic rs34255534 FAM19A2 AU NM_178539 exon4 c.156914-23insA 0.421276 0.4632 0.5014 Uncertain 12_62705960_A->G 12 62705960 62705960 A G snp 159.77 0/1 99 17 8 9 0.53 intronic rs17120331 USP15 AU NM_006313 exon4 c.54375-2610A>G 0.244409 0.4266 Uncertain 12_62778065_A->G 12 62778065 62778065 A G snp 555.77 0/1 99 49 26 23 0.47 exonic rs2044846 USP15 AU synonymous SNV NM_001252078 exon11 c.A1455G p.P485P 0.560304 0.5813 0.593740 0.6018 0.6042 Uncertain 12_62783843_C->T 12 62783843 62783843 C T snp 53.77 0/1 82 20 16 4 0.2 intronic rs17097891 USP15 AU NM_006313 exon13 c.129573+75C>T 0.245407 0.4286 Uncertain 12_62810962_G->A 12 62810962 62810962 G A snp 1012.77 0/1 99 116 68 48 0.41 intergenic rs10459254 USP15 AU 0.816494 0.6964 0.8048 0.7424 0.0 P -1.017 T Uncertain 12_62928748_A->- 12 62928748 62928748 A - indel 2723.73 1/1 99 94 0 94 1.0 intronic rs11364534 MON2 AU NM_015026 exon13 c.67719+42delA 0.997804 1 0.998562 0.9994 1 Uncertain 12_62943371_G->A 12 62943371 62943371 G A snp 130.77 0/1 99 12 6 6 0.5 intronic rs10877874 MON2 AU NM_015026 exon23 c.82460-76G>A 0.211861 0.0873 Uncertain 12_62959137_A->G 12 62959137 62959137 A G snp 1423.77 0/1 99 122 65 57 0.47 exonic rs11174549 MON2 AU nonsynonymous SNV NM_001278469 exon27 c.A4153G p.I1385V 0.058107 0.0585 0.091650 0.0956 0.0610 1.000 P -1.079 T 0.001 T 0.004 T Pathogenic 12_63083521_G->A 12 63083521 63083521 G A snp 1899.77 0/1 99 161 87 74 0.46 exonic rs11174604 PPM1H AU synonymous SNV NM_020700 exon8 c.C1203T p.D401D 0.169329 0.1101 0.145297 0.1171 0.1026 Uncertain 12_63113828_T->C 12 63113828 63113828 T C snp 279.78 1/1 24 9 0 9 1.0 intronic rs342170 PPM1H AU NM_020700 exon5 c.71682-122T>C 0.647165 0.7063 Uncertain 12_63114156_A->G 12 63114156 63114156 A G snp 1253.77 1/1 93 38 0 38 1.0 intronic rs2270484 PPM1H AU NM_020700 exon5 c.71801+87A>G 0.191893 0.2599 Uncertain 12_63359011_A->T 12 63359011 63359011 A T snp 480.77 1/1 36 14 0 14 1.0 intergenic rs699595 PPM1H AU 0.97504 1 Uncertain 12_63359550_CTGCTG->- 12 63359550 63359555 CTGCTG - indel 4120.73 1/1 99 63 0 63 1.0 intergenic rs143590555 PPM1H AU 0.901358 0.997 Uncertain 12_63543552_TC->- 12 63543552 63543553 TC - indel 427.73 0/1 81 20 4 16 0.8 intronic AVPR1A AU NM_000706 exon2 c.2508-94_2508-93delTC Uncertain 12_63543578_T->A 12 63543578 63543578 T A snp 932.77 0/1 99 46 18 28 0.61 intronic rs10784341 AVPR1A AU NM_000706 exon2 c.2508-68T>A Uncertain 12_63544209_A->G 12 63544209 63544209 A G snp 3514.77 0/1 99 250 128 122 0.49 exonic rs1042615 AVPR1A AU synonymous SNV NM_000706 exon1 c.T408C p.F136F 0.650759 0.4583 0.662360 0.6108 0.4559 Uncertain 12_64011062_A->G 12 64011062 64011062 A G snp 4582.77 1/1 99 178 0 178 1.0 intronic rs4105524 DPY19L2 AR NM_173812 exon12 c.56792-21A>G 0.407348 0.4067 0.422495 0.4837 0.4913 Uncertain 12_64061745_C->G 12 64061745 64061745 C G snp 442.77 1/1 36 16 0 16 1.0 intronic rs11175110 DPY19L2 AR NM_173812 exon22 c.107545-91C>G 0.623403 0.8482 Uncertain 12_64062023_A->C 12 64062023 64062023 A C snp 1114.77 0/1 99 119 69 50 0.42 exonic rs10878073 DPY19L2 AR nonsynonymous SNV NM_173812 exon1 c.T151G p.S51A 0.395168 0.5714 0.263267 0.2888 0.5872 0.000 P -0.936 T 0.0 T 0.0 T Pathogenic 12_64062052_G->A 12 64062052 64062052 G A snp 1353.77 0/1 99 127 71 56 0.44 exonic rs10878074 DPY19L2 AR nonsynonymous SNV NM_173812 exon1 c.C122T p.A41V 0.395168 0.5714 0.260471 0.2886 0.5871 0.000 P -0.929 T 0.003 T 0.001 T Pathogenic 12_64062065_T->C 12 64062065 64062065 T C snp 1423.77 0/1 99 121 66 55 0.45 exonic rs10878075 DPY19L2 AR nonsynonymous SNV NM_173812 exon1 c.A109G p.M37V 0.395367 0.5714 0.258398 0.2894 0.5877 0.000 P -0.928 T 0.0 T 0.0 T Pathogenic 12_64078548_G->A 12 64078548 64078548 G A snp 1071.77 0/1 99 86 48 38 0.44 intergenic rs61935227 DPY19L2 AR 0.28095 0.256 Uncertain 12_64078557_C->T 12 64078557 64078557 C T snp 1081.77 0/1 99 100 54 46 0.46 intergenic rs61935228 DPY19L2 AR 0.28095 0.256 Uncertain 12_64078612_G->A 12 64078612 64078612 G A snp 1729.77 0/1 99 147 77 70 0.48 intergenic rs61935229 DPY19L2 AR 0.28095 0.256 Uncertain 12_64078692_C->T 12 64078692 64078692 C T snp 1558.77 0/1 99 134 71 63 0.47 intergenic DPY19L2 AR Uncertain 12_64118558_A->G 12 64118558 64118558 A G snp 2326.77 1/1 99 81 0 81 1.0 intergenic rs3864455 DPY19L2 AR 0.596246 0.8403 Uncertain 12_64173573_C->A 12 64173573 64173573 C A snp 104.77 0/1 99 8 4 4 0.5 upstream rs73313417 TMEM5 AR 0.310703 0.5992 Uncertain 12_64174680_G->C 12 64174680 64174680 G C snp 80.77 0/1 69 5 2 3 0.6 intronic rs3791156 TMEM5 AR NM_014254 exon2 c.1058-118G>C 0.331869 0.622 Uncertain 12_64202890_C->G 12 64202890 64202890 C G snp 132.78 0/1 27 8 1 7 0.88 ncRNA_intronic rs1876465 TMEM5-AS1 AU 0.161941 0.1895 0.1371 0.2249 Uncertain 12_64383509_A->G 12 64383509 64383509 A G snp 141.03 1/1 12 4 0 4 1.0 intronic rs3741606 SRGAP1 AD NM_020762 exon3 c.145093-180A>G 0.565495 0.5397 Uncertain 12_64383670_T->C 12 64383670 64383670 T C snp 1901.77 0/1 99 162 81 81 0.5 intronic rs3741607 SRGAP1 AD NM_020762 exon3 c.145093-19T>C 0.48722 0.5397 0.427341 0.4702 0.5328 Uncertain 12_64472803_A->T 12 64472803 64472803 A T snp 5401.77 1/1 99 206 0 206 1.0 exonic rs789710 SRGAP1 AD synonymous SNV NM_020762 exon9 c.A1230T p.S410S 0.979832 1 0.981163 0.9947 1 Uncertain 12_64485593_-->CC 12 64485593 64485593 - CC indel 1849.73 1/1 99 36 0 36 1.0 intronic rs397714769 SRGAP1 AD NM_020762 exon12 c.246562+435insCC 1 1 Uncertain 12_64519806_T->C 12 64519806 64519806 T C snp 6868.77 1/1 99 247 0 247 1.0 exonic rs789722 SRGAP1 AD synonymous SNV NM_020762 exon19 c.T2274C p.S758S 0.588858 0.6319 0.568814 0.5465 0.6398 Uncertain 12_64521567_C->G 12 64521567 64521567 C G snp 3402.77 0/1 99 250 124 126 0.5 intronic rs10878106 SRGAP1 AD NM_020762 exon20 c.282908+63C>G 0.307907 0.5615 Uncertain 12_64521593_C->T 12 64521593 64521593 C T snp 3033.77 0/1 99 249 132 117 0.47 intronic rs77250228 SRGAP1 AD NM_020762 exon21 c.283044-47C>T 0.00978435 0.0456 0.000077 0.0034 0.0446 Uncertain 12_64535942_T->G 12 64535942 64535942 T G snp 46.77 0/1 33 4 1 3 0.75 intronic rs3741608 SRGAP1 AD NM_020762 exon22 c.297478-132T>G 0.151757 0.0575 Uncertain 12_64587633_C->A 12 64587633 64587633 C A snp 2500.77 1/1 99 91 0 91 1.0 exonic rs699638 C12orf66 AU nonsynonymous SNV NM_152440 exon3 c.G1327T p.A443S 0.995807 1 0.993520 0.9982 1 0.001 P -0.951 T 0.0 T 0.0 T Pathogenic 12_64609562_C->T 12 64609562 64609562 C T snp 2175.77 1/1 99 85 0 85 1.0 exonic rs2335390 C12orf66 AU nonsynonymous SNV NM_152440 exon2 c.G417A p.M139I 0.986022 1 0.985634 0.9960 1 0.0 P -0.977 T 0.0 T 0.001 T Pathogenic 12_64661209_A->C 12 64661209 64661209 A C snp 267.8 1/1 21 7 0 7 1.0 intronic rs1657057 C12orf56 AU NM_001170633 exon1 c.106+141A>C 1 1 Uncertain 12_64661210_T->C 12 64661210 64661210 T C snp 267.8 1/1 21 7 0 7 1.0 intronic rs1657058 C12orf56 AU NM_001170633 exon1 c.106+142T>C 1 1 Uncertain 12_64668659_G->T 12 64668659 64668659 G T snp 2842.77 1/1 99 120 0 120 1.0 intronic rs6581534 C12orf56 AU NM_001170633 exon3 c.7718-21G>T 0.294529 0.4722 0.197929 0.2565 0.5070 Uncertain 12_64671412_-->TATA 12 64671412 64671412 - TATA indel 651.73 1/1 33 11 0 11 1.0 intronic rs10624687 C12orf56 AU NM_001170633 exon5 c.10497-47insTATA 0.2552 0.3704 Uncertain 12_64678416_G->A 12 64678416 64678416 G A snp 6193.77 1/1 99 228 0 228 1.0 intronic rs12581905 C12orf56 AU NM_001170633 exon6 c.17481-27G>A 0.291933 0.4722 0.194087 0.3127 0.5495 Uncertain 12_64712511_A->G 12 64712511 64712511 A G snp 5734.77 1/1 99 210 1 209 1.0 exonic rs7955105 C12orf56 AU synonymous SNV NM_001170633 exon4 c.T738C p.N246N 0.985423 1 0.984450 0.9948 1 Uncertain 12_64712652_G->A 12 64712652 64712652 G A snp 2077.77 0/1 99 151 64 87 0.58 exonic rs760726138 C12orf56 AU synonymous SNV NM_001170633 exon4 c.C597T p.S199S 5.727e-05 0.0030 Uncertain 12_64803798_A->C 12 64803798 64803798 A C snp 1922.77 1/1 99 74 1 73 0.99 UTR5 rs11175383 XPOT AU 0.302117 0.2411 0.305705 0.2903 0.2266 Uncertain 12_64818341_A->G 12 64818341 64818341 A G snp 54.74 1/1 6 2 0 2 1.0 intronic rs61931551 XPOT AU NM_007235 exon12 c.14563-37A>G 0.304113 0.25 0.305782 0.2908 0.2289 Uncertain 12_64818598_G->A 12 64818598 64818598 G A snp 505.77 0/1 99 58 37 21 0.36 intronic rs61931552 XPOT AU NM_007235 exon12 c.14688+95G>A 0.067492 0.0258 Uncertain 12_64821983_A->- 12 64821983 64821983 A - indel 751.73 0/1 99 53 18 35 0.66 intronic rs56063305 XPOT AU NM_007235 exon16 c.18085+83delA 0.122005 0.0357 Uncertain 12_64827444_T->C 12 64827444 64827444 T C snp 848.77 0/1 99 69 34 35 0.51 intronic rs61931555 XPOT AU NM_007235 exon19 c.23568+61T>C 0.0650958 0.0258 Uncertain 12_64858100_-->T 12 64858100 64858100 - T indel 668.73 1/1 43 31 2 29 0.94 intronic rs397716300 TBK1 AD NM_013254 exon4 c.8463-13insT 0.834065 0.8938 0.822702 0.8224 0.8219 Uncertain 12_64879903_A->G 12 64879903 64879903 A G snp 314.77 0/1 99 16 6 10 0.63 intronic rs7487627 TBK1 AD NM_013254 exon11 c.30147+106A>G 0.386581 0.5853 Uncertain 12_64889630_G->A 12 64889630 64889630 G A snp 56.74 1/1 6 2 0 2 1.0 intronic rs566488337 TBK1 AD NM_013254 exon15 c.39905+75G>A 0.000199681 0.001 Uncertain 12_64891392_-->GTT 12 64891392 64891392 - GTT indel 627.73 0/1 99 25 12 13 0.52 intronic rs146676333 TBK1 AD NM_013254 exon19 c.41777-35insGTT 0.148161 0.1320 0.0313 Uncertain 12_65082330_G->A 12 65082330 65082330 G A snp 77.77 0/1 30 4 1 3 0.75 intronic rs508792 RASSF3 AU NM_178169 exon3 c.77821+97G>A 0.335064 0.3353 Uncertain 12_65134536_C->G 12 65134536 65134536 C G snp 446.77 0/1 99 20 6 14 0.7 intronic rs1690277 GNS AR NM_002076 exon8 c.23948+68C>G 0.764776 0.8571 Uncertain 12_65146532_C->T 12 65146532 65146532 C T snp 804.77 0/1 99 68 34 34 0.5 exonic rs1147096 GNS AR synonymous SNV NM_002076 exon2 c.G198A p.P66P 0.693219 0.6550 0.8753 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000079972.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 12_65146676_T->C 12 65146676 65146676 T C snp 685.77 0/1 99 71 42 29 0.41 intronic rs1147095 GNS AR NM_002076 exon13 c.36017+139T>C 0.60024 0.8571 Uncertain 12_65150485_C->T 12 65150485 65150485 C T snp 1587.77 0/1 99 140 65 75 0.54 intronic rs2620733 GNS AR NM_002076 exon14 c.42344-2379C>T 0.767772 0.8581 0.6401 0.8409 0.000 P -0.963 T 0.0 T 0.0 T Uncertain 12_65222347_C->G 12 65222347 65222347 C G snp 1026.77 0/1 99 64 24 40 0.63 intronic rs1144426 TBC1D30 AU NM_015279 exon3 c.3630+58C>G 0.621805 0.8829 Uncertain 12_65270436_A->G 12 65270436 65270436 A G snp 599.77 0/1 99 50 25 25 0.5 UTR3 rs7311657 TBC1D30 AU 0.468051 0.7063 Uncertain 12_65448986_G->A 12 65448986 65448986 G A snp 1938.77 0/1 99 166 84 82 0.49 exonic rs1026024 WIF1 AU synonymous SNV NM_007191 exon9 c.C930T p.C310C 0.0609026 0.1885 0.001845 0.0289 0.1802 Uncertain 12_65460368_A->G 12 65460368 65460368 A G snp 989.77 1/1 75 31 0 31 1.0 intronic rs3782498 WIF1 AU NM_007191 exon5 c.15292-52A>G 0.533746 0.7411 0.546430 Uncertain 12_65462430_TGTGTGTGTG->- 12 65462430 65462439 TGTGTGTGTG - indel 8043.73 1/1 99 68 0 68 1.0 intronic rs57818684 WIF1 AU NM_007191 exon7 c.17415-113_17415-104delTGTGTGTGTG Uncertain 12_65471467_A->G 12 65471467 65471467 A G snp 1133.77 0/1 99 87 40 47 0.54 intronic rs2289936 WIF1 AU NM_007191 exon8 c.26397-58A>G 0.169728 0.4067 Uncertain 12_65477614_TTC->- 12 65477614 65477616 TTC - indel 926.73 1/1 51 17 0 17 1.0 intronic rs150722125 WIF1 AU NM_007191 exon8 c.26506+5980_26506+5982delTTC 0.6733 0.7652 Uncertain 12_65514266_T->C 12 65514266 65514266 T C snp 4206.77 1/1 99 164 0 164 1.0 exonic rs7301320 WIF1 AU synonymous SNV NM_007191 exon2 c.A219G p.A73A 0.824081 0.999 0.747578 0.7765 0.9995 Uncertain 12_65563754_C->T 12 65563754 65563754 C T snp 857.77 0/1 99 72 36 36 0.5 exonic rs61736593 LEMD3 AD,AO synonymous SNV NM_014319 exon1 c.C378T p.S126S 0.048123 0.1736 0.001736 0.0743 0.25 Uncertain 12_65633881_TGAT->- 12 65633881 65633884 TGAT - indel 1458.73 0/1 99 72 41 31 0.43 intronic rs10534559 LEMD3 AD,AO NM_001167614 exon8 c.70539-34_70539-31delTGAT 0.381789 0.4802 0.448554 0.5234 0.5045 Uncertain 12_65762704_C->- 12 65762704 65762704 C - indel 681.73 1/1 46 42 3 39 0.93 intronic rs57910895 MSRB3 AR NM_198080 exon4 c.90229-73delC Uncertain 12_66232174_A->- 12 66232174 66232174 A - indel 131.73 0/1 99 18 9 9 0.5 intronic rs60377295 HMGA2 AU NM_003484 exon3 c.13248-124delA 0.457668 0.3948 Uncertain 12_66232383_-->G 12 66232383 66232383 - G indel 459.73 0/1 99 27 14 13 0.48 intronic rs3834468 HMGA2 AU NM_003484 exon3 c.13299+34insG 0.0950479 0.1022 0.080617 0.0970 0.1529 Uncertain 12_66308644_A->G 12 66308644 66308644 A G snp 463.77 1/1 36 12 0 12 1.0 intronic rs10878345 HMGA2 AU NM_001300919 exon4 c.89449+145A>G 0.417732 0.2827 0.4869 0.4661 0.0 P -0.904 T 0.003 T 0.029 T Uncertain 12_66346121_A->G 12 66346121 66346121 A G snp 1873.77 0/1 99 195 116 79 0.41 intronic rs1480469 HMGA2 AU NM_001300918 exon5 c.127085-14A>G 0.31889 0.748 0.2840 0.8106 Uncertain 12_66502665_A->T 12 66502665 66502665 A T snp 171.9 1/1 15 5 0 5 1.0 intergenic rs7302893 MIR6074 AU 0.309305 0.3452 Uncertain 12_66517828_T->A 12 66517828 66517828 T A snp 1381.77 1/1 99 51 0 51 1.0 intronic rs2464304 LLPH AU NM_032338 exon1 c.179+30T>A 1 1 1 1 Uncertain 12_66517944_G->A 12 66517944 66517944 G A snp 96.28 1/1 9 3 0 3 1.0 intronic rs7295147 LLPH AU NM_032338 exon1 c.179+146G>A 0.305911 0.3452 Uncertain 12_66531694_A->G 12 66531694 66531694 A G snp 263.8 1/1 21 10 0 10 1.0 UTR3 rs1185629 TMBIM4 AU 0.982628 1 0.951230 0.9556 1 Uncertain 12_66533329_A->G 12 66533329 66533329 A G snp 683.77 1/1 51 20 0 20 1.0 intronic rs11176056 TMBIM4 AU NM_016056 exon2 c.810+780A>G 0.30611 0.3452 Uncertain 12_66546100_A->G 12 66546100 66546100 A G snp 3134.77 1/1 99 131 0 131 1.0 exonic rs8793 TMBIM4 AU nonsynonymous SNV NM_001282609 exon3 c.T263C p.I88T 0.470447 0.8839 0.381697 0.4472 0.8585 0.0 P -1.009 T 0.001 T 0.003 T Pathogenic 12_66597701_C->T 12 66597701 66597701 C T snp 729.77 0/1 99 58 30 28 0.48 intronic rs1882200 IRAK3 AU NM_007199 exon2 c.14594+28C>T 0.204073 0.1319 0.247040 0.2401 0.1264 Uncertain 12_66603399_C->T 12 66603399 66603399 C T snp 391.77 0/1 99 48 29 19 0.4 intronic rs11465955 IRAK3 AU NM_007199 exon3 c.20221+99C>T 0.177716 0.1339 Uncertain 12_66605228_A->G 12 66605228 66605228 A G snp 1232.77 1/1 90 40 0 40 1.0 exonic rs1152888 IRAK3 AU nonsynonymous SNV NM_007199 exon5 c.A439G p.I147V 0.708866 0.5794 0.784000 0.8630 0.5895 0.0 P -1.024 T 0.01 T 0.007 T Pathogenic 12_66696255_T->C 12 66696255 66696255 T C snp 839.77 0/1 99 81 51 30 0.37 upstream rs3741605 HELB AU 0.478035 0.2629 Uncertain 12_66696410_C->T 12 66696410 66696410 C T snp 3332.77 0/1 99 250 125 125 0.5 exonic rs3741604 HELB AU synonymous SNV NM_033647 exon1 c.C27T p.R9R 0.303315 0.1825 0.431109 0.4319 0.1939 Uncertain 12_66698438_G->A 12 66698438 66698438 G A snp 221.77 0/1 99 13 5 8 0.62 intronic rs2118139 HELB AU NM_033647 exon2 c.2127-72G>A 0.540335 0.4097 Uncertain 12_66698461_A->G 12 66698461 66698461 A G snp 323.77 0/1 99 23 10 13 0.57 intronic rs2118140 HELB AU NM_033647 exon2 c.2127-49A>G 0.469449 0.3304 0.547155 0.4901 0.3261 Uncertain 12_66698895_T->C 12 66698895 66698895 T C snp 1922.77 0/1 99 149 61 88 0.59 exonic rs4430553 HELB AU nonsynonymous SNV NM_033647 exon2 c.T572C p.L191P 0.498203 0.3304 0.576196 0.5009 0.3261 0.0 P -1.004 T 0.0 T 0.0 T Pathogenic 12_66698954_C->G 12 66698954 66698954 C G snp 2422.77 1/1 99 76 0 76 1.0 intronic rs1971302 HELB AU NM_033647 exon2 c.2547+24C>G 0.65635 0.4931 0.724316 0.6781 0.4572 Uncertain 12_66717692_T->G 12 66717692 66717692 T G snp 1177.77 1/1 87 35 0 35 1.0 intronic rs7969887 HELB AU NM_033647 exon10 c.21379-70T>G 0.657149 0.494 Uncertain 12_66717716_C->T 12 66717716 66717716 C T snp 1652.77 1/1 99 53 0 53 1.0 intronic rs7957877 HELB AU NM_033647 exon10 c.21379-46C>T 0.656949 0.494 0.730893 0.6790 0.4551 Uncertain 12_66719052_C->T 12 66719052 66719052 C T snp 141.03 1/1 12 4 0 4 1.0 intronic rs11176144 HELB AU NM_033647 exon11 c.22523+146C>T 0.450879 0.2262 Uncertain 12_66725160_C->T 12 66725160 66725160 C T snp 2228.77 0/1 99 223 128 95 0.43 exonic rs1185244 HELB AU nonsynonymous SNV NM_033647 exon12 c.C2897T p.P966L 0.477835 0.5585 0.415039 0.4793 0.5776 0.0 P -0.986 T 0.016 T 0.002 T Pathogenic 12_66731864_C->A 12 66731864 66731864 C A snp 360.77 0/1 99 54 35 19 0.35 exonic rs1168329 HELB AU synonymous SNV NM_033647 exon13 c.C3246A p.T1082T 0.536342 0.5585 0.476549 0.4974 0.5779 Uncertain 12_66732057_C->G 12 66732057 66732057 C G snp 40.77 0/1 69 5 3 2 0.4 intronic rs1183274 HELB AU NM_033647 exon13 c.35609+65C>G 0.507388 0.5585 Uncertain 12_66771121_T->C 12 66771121 66771121 T C snp 37.77 0/1 66 7 5 2 0.29 intronic rs148141593 GRIP1 AR NM_001178074 exon4 c.28267+56T>C 0.382987 0.4613 Uncertain 12_66786073_A->G 12 66786073 66786073 A G snp 4849.77 1/1 99 187 0 187 1.0 intronic rs7970076 GRIP1 AR NM_001178074 exon6 c.43289-14A>G 0.974641 1 0.978215 0.9939 0.9999 Uncertain 12_66786091_G->C 12 66786091 66786091 G C snp 5603.77 1/1 99 209 0 209 1.0 exonic rs13277 GRIP1 AR nonsynonymous SNV NM_021150 exon18 c.C2305G p.Q769E 0.84365 0.9296 0.889579 0.9494 0.9441 1.000 P -1.025 T 0.808 T 0.364 P Pathogenic 12_66786341_G->A 12 66786341 66786341 G A snp 1214.77 1/1 90 39 0 39 1.0 intronic rs7970771 GRIP1 AR NM_001178074 exon6 c.43484+59G>A 0.994409 1 Uncertain 12_66786644_G->A 12 66786644 66786644 G A snp 1321.77 1/1 96 43 0 43 1.0 intronic rs2270594 GRIP1 AR NM_001178074 exon7 c.43798+48G>A 0.844249 0.9296 0.892441 0.9497 0.9441 Uncertain 12_66826528_AAGT->- 12 66826528 66826531 AAGT - indel 309.87 1/1 15 10 0 10 1.0 intronic rs143524823 GRIP1 AR NM_001178074 exon11 c.83610+120_83610+123delAAGT 0.86901 0.7798 Uncertain 12_66826555_A->G 12 66826555 66826555 A G snp 141.03 1/1 12 4 0 4 1.0 intronic rs6581694 GRIP1 AR NM_001178074 exon11 c.83610+147A>G 0.86881 0.7788 Uncertain 12_66838243_A->G 12 66838243 66838243 A G snp 96.28 1/1 9 5 0 5 1.0 intronic rs10878422 GRIP1 AR NM_001178074 exon12 c.95565-120A>G 0.614217 0.7063 Uncertain 12_66838272_-->A 12 66838272 66838272 - A indel 66.73 0/1 42 15 5 10 0.67 intronic GRIP1 AR NM_001178074 exon12 c.95565-91insA Uncertain 12_66849408_T->C 12 66849408 66849408 T C snp 116.77 0/1 99 9 4 5 0.56 intronic rs1038923 GRIP1 AR NM_001178074 exon14 c.106546+64T>C 0.591054 0.4157 Uncertain 12_66856976_AAAT->- 12 66856976 66856979 AAAT - indel 139.73 0/1 99 16 9 7 0.44 intronic rs147048437 GRIP1 AR NM_001178074 exon15 c.114075+103_114075+106delAAAT Uncertain 12_66856984_G->A 12 66856984 66856984 G A snp 118.77 0/1 99 14 8 6 0.43 intronic rs2307125 GRIP1 AR NM_001178074 exon15 c.114075+111G>A Uncertain 12_66859025_G->A 12 66859025 66859025 G A snp 744.77 0/1 99 75 44 31 0.41 intronic rs17102543 GRIP1 AR NM_001178074 exon16 c.116256-29G>A 0.0700879 0.1181 0.041161 0.0298 0.1140 Uncertain 12_66859221_T->C 12 66859221 66859221 T C snp 823.77 0/1 99 74 38 36 0.49 intronic rs12820901 GRIP1 AR NM_001178074 exon16 c.116404+19T>C 0.2498 0.129 0.291695 0.2132 0.1251 Uncertain 12_66909389_C->T 12 66909389 66909389 C T snp 640.77 0/1 99 68 41 27 0.4 intronic rs12316942 GRIP1 AR NM_001178074 exon17 c.166600-9C>T 0.717053 0.6488 0.685203 0.6523 0.6547 Uncertain 12_66933149_C->T 12 66933149 66933149 C T snp 145.77 0/1 99 16 9 7 0.44 intronic rs10219689 GRIP1 AR NM_001178074 exon20 c.190205+146C>T 0.473243 0.502 Uncertain 12_66990485_T->G 12 66990485 66990485 T G snp 192.77 0/1 99 12 5 7 0.58 intronic rs7976984 GRIP1 AR NM_001178074 exon22 c.247828-141T>G 0.23123 0.247 Uncertain 12_66990559_T->C 12 66990559 66990559 T C snp 864.77 0/1 99 66 30 36 0.55 intronic GRIP1 AR NM_001178074 exon22 c.247828-67T>C Uncertain 12_68042982_G->A 12 68042982 68042982 G A snp 2381.77 0/1 99 186 80 106 0.57 intronic rs141665168 DYRK2 AU NM_006482 exon1 c.49+20G>A 0.0770767 0.1766 0.062326 0.1165 0.2545 Uncertain 12_68043777_G->A 12 68043777 68043777 G A snp 31.77 0/1 60 8 5 3 0.38 intronic rs183590629 DYRK2 AU NM_006482 exon2 c.812+52G>A 0.000599042 0.003 0 0 Uncertain 12_68052178_G->T 12 68052178 68052178 G T snp 1245.77 0/1 99 107 53 54 0.5 exonic rs3741644 DYRK2 AU synonymous SNV NM_003583 exon2 c.G1272T p.G424G 0.510982 0.6052 0.506997 0.5974 0.6512 Uncertain 12_68552042_A->- 12 68552042 68552042 A - indel 760.73 1/1 95 45 0 45 1.0 splicing rs2234686 IFNG AU,AD NM_000619 exon3 c.2907+3delA 0.625799 0.5863 0.5973 0.5833 Pathogenic 12_68595719_T->C 12 68595719 68595719 T C snp 984.77 1/1 72 34 0 34 1.0 intronic rs10748100 IL26 AU NM_018402 exon1 c.87+8T>C 0.245807 0.5218 0.092101 0.1839 0.4916 Uncertain 12_68595787_A->G 12 68595787 68595787 A G snp 430.77 1/1 33 16 0 16 1.0 intronic rs10748101 IL26 AU NM_018402 exon2 c.173-10A>G 0.223642 0.5258 0.068519 0.2178 0.5358 Uncertain 12_68646521_T->C 12 68646521 68646521 T C snp 3854.77 1/1 99 133 1 132 0.99 intronic rs2227491 IL22 AU NM_020525 exon4 c.3965-22T>C 0.549321 0.5308 0.591881 0.5502 0.4992 Uncertain 12_69048131_-->G 12 69048131 69048131 - G indel 254.73 1/1 33 17 0 17 1.0 intronic rs112638624 RAP1B AU NM_015646 exon5 c.5528+99insG Uncertain 12_69080728_T->G 12 69080728 69080728 T G snp 564.77 0/1 99 38 16 22 0.58 upstream rs2259702 LOC100507250 AU 0.338458 0.3264 Uncertain 12_69082669_A->G 12 69082669 69082669 A G snp 172.77 0/1 99 22 14 8 0.36 intronic rs2259592 NUP107 AR NM_020401 exon2 c.1896-72A>G 0.334864 0.3075 Uncertain 12_69082805_G->A 12 69082805 69082805 G A snp 971.77 0/1 99 97 50 47 0.48 exonic rs2259588 NUP107 AR synonymous SNV NM_020401 exon2 c.G72A p.R24R 0.220647 0.3065 0.209596 0.2536 0.3152 Uncertain 12_69083237_A->G 12 69083237 69083237 A G snp 860.77 0/1 99 59 26 33 0.56 intronic rs2546509 NUP107 AR NM_020401 exon3 c.2467-75A>G 0.224241 0.3244 Uncertain 12_69090573_-->T 12 69090573 69090573 - T indel 79.73 0/1 99 28 13 15 0.54 intronic rs35640989 NUP107 AR NM_020401 exon6 c.9753-25insT 0.332069 0.3839 0.3628 0.3222 Uncertain 12_69090754_A->G 12 69090754 69090754 A G snp 748.77 0/1 99 43 13 30 0.7 intronic rs2701088 NUP107 AR NM_020401 exon6 c.9857+52A>G 0.228634 0.3185 0.208333 0.2619 0.3234 Uncertain 12_69090803_G->C 12 69090803 69090803 G C snp 182.77 0/1 99 17 9 8 0.47 intronic rs2546527 NUP107 AR NM_020401 exon6 c.9857+101G>C 0.228634 0.3185 Uncertain 12_69109617_T->C 12 69109617 69109617 T C snp 1193.77 0/1 99 78 32 46 0.59 intronic rs2701097 NUP107 AR NM_020401 exon12 c.28675+97T>C 0.321685 0.3006 Uncertain 12_69115698_G->A 12 69115698 69115698 G A snp 1967.77 0/1 99 191 104 87 0.46 exonic rs17851475 NUP107 AR synonymous SNV NM_020401 exon16 c.G1389A p.Q463Q 0.219848 0.2996 0.211595 0.2546 0.3071 Uncertain 12_69119618_T->G 12 69119618 69119618 T G snp 167.77 0/1 99 19 12 7 0.37 intronic rs28514526 NUP107 AR NM_020401 exon18 c.38731+42T>G 0.1178 0.1094 Uncertain 12_69125513_G->T 12 69125513 69125513 G T snp 961.77 0/1 99 80 35 45 0.56 intronic rs7976871 NUP107 AR NM_020401 exon22 c.44654+14G>T 0.220248 0.2986 0.118638 0.2575 0.3084 Uncertain 12_69125514_G->T 12 69125514 69125514 G T snp 942.77 0/1 99 79 34 45 0.57 intronic rs7976876 NUP107 AR NM_020401 exon22 c.44654+15G>T 0.220248 0.2986 0.115639 0.2574 0.3091 Uncertain 12_69125578_C->T 12 69125578 69125578 C T snp 627.77 0/1 99 43 16 27 0.63 intronic rs7976687 NUP107 AR NM_020401 exon22 c.44654+79C>T 0.220447 0.2986 Uncertain 12_69141678_T->A 12 69141678 69141678 T A snp 341.77 0/1 99 24 11 13 0.54 intronic rs57821268 SLC35E3 AU NM_018656 exon2 c.1552-31T>A 0.231629 0.2867 0.186863 0.2588 0.3033 Uncertain 12_69160523_C->T 12 69160523 69160523 C T snp 231.77 0/1 88 11 3 8 0.73 downstream rs10878868 SLC35E3 AU 0.218051 0.3621 0.2569 0.3939 0.0 P -0.900 T Uncertain 12_69207162_G->A 12 69207162 69207162 G A snp 468.77 1/1 36 14 0 14 1.0 intronic rs1470383 MDM2 AU NM_001145339 exon3 c.5076-171G>A 0.879792 0.8135 Uncertain 12_69208578_A->C 12 69208578 69208578 A C snp 220.84 1/1 18 6 0 6 1.0 intronic rs1846402 MDM2 AU NM_001145339 exon3 c.5151+1170A>C 0.871206 0.8165 Uncertain 12_69218038_T->G 12 69218038 69218038 T G snp 101.28 1/1 9 4 0 4 1.0 intronic rs2291857 MDM2 AU NM_001145337 exon6 c.15151-104T>G 0.51857 0.6597 Uncertain 12_69250548_C->T 12 69250548 69250548 C T snp 3053.77 1/1 99 93 0 93 1.0 intronic rs3741598 CPM AU NM_198320 exon1 c.243+89C>T 0.53774 0.9365 Uncertain 12_69263979_A->G 12 69263979 69263979 A G snp 1463.77 1/1 99 49 0 49 1.0 intronic rs2291693 CPM AU NM_198320 exon5 c.13778-15A>G 0.160144 0.1925 0.116792 0.0836 0.1788 Uncertain 12_69279736_A->G 12 69279736 69279736 A G snp 402.77 0/1 99 47 33 14 0.3 intronic rs2701085 CPM AU NM_198320 exon7 c.29453+67A>G 0.856629 0.8095 Uncertain 12_69652740_G->A 12 69652740 69652740 G A snp 2124.77 0/1 99 198 106 92 0.46 exonic rs2231699 CPSF6 AU synonymous SNV NM_007007 exon6 c.G1065A p.P355P 0.000798722 0.004 0.0003 0.0035 Uncertain 12_69747177_C->T 12 69747177 69747177 C T snp 176.9 1/1 15 5 0 5 1.0 UTR3 rs710794 LYZ AD 0.919928 0.9306 Uncertain 12_69979127_G->A 12 69979127 69979127 G A snp 721.77 0/1 99 32 9 23 0.72 upstream;downstream rs17106752 CCT2 AU 0.16274 0.3323 Uncertain 12_69980028_G->A 12 69980028 69980028 G A snp 1931.77 0/1 99 158 72 86 0.54 intronic rs485288 CCT2 AU NM_006431 exon2 c.748-21G>A 0.775559 0.8948 0.698754 0.7488 0.9228 Uncertain 12_69980141_G->C 12 69980141 69980141 G C snp 935.77 0/1 99 69 33 36 0.52 intronic rs484319 CCT2 AU NM_006431 exon2 c.823+17G>C 0.853435 0.8958 0.767184 0.7685 0.9232 Uncertain 12_69980434_C->T 12 69980434 69980434 C T snp 44.77 0/1 73 9 6 3 0.33 intronic rs80262100 CCT2 AU NM_006431 exon3 c.1231-98C>T 0.086262 0.3165 Uncertain 12_69981862_G->A 12 69981862 69981862 G A snp 925.77 0/1 99 73 36 37 0.51 intronic rs530701 CCT2 AU NM_001198842 exon6 c.1334-67G>A 0.785543 0.8948 Uncertain 12_69982129_G->C 12 69982129 69982129 G C snp 374.77 0/1 99 38 22 16 0.42 intronic rs710777 CCT2 AU NM_001198842 exon6 c.1447+87G>C 0.53095 0.5923 Uncertain 12_69985772_TT->- 12 69985772 69985773 TT - indel 344.73 0/1 99 21 12 9 0.43 intronic rs137875319 CCT2 AU NM_001198842 exon8 c.5243-66_5243-65delTT 0.599641 0.5933 Uncertain 12_69987494_G->A 12 69987494 69987494 G A snp 605.77 0/1 99 50 30 20 0.4 intronic rs710773 CCT2 AU NM_001198842 exon10 c.6798+101G>A 0.795327 0.8968 Uncertain 12_69991084_G->T 12 69991084 69991084 G T snp 2711.77 0/1 99 222 113 109 0.49 intronic rs710766 CCT2 AU NM_001198842 exon11 c.10460+29G>T 0.0209665 0.0992 0.000923 0.0086 0.1030 Uncertain 12_69991627_C->T 12 69991627 69991627 C T snp 381.77 0/1 99 35 20 15 0.43 intronic rs710765 CCT2 AU NM_001198842 exon12 c.10951+81C>T 0.867013 0.8958 Uncertain 12_69991675_T->C 12 69991675 69991675 T C snp 670.77 0/1 99 46 23 23 0.5 intronic rs35639 CCT2 AU NM_001198842 exon13 c.11152-72T>C 0.108027 0.3264 Uncertain 12_69992370_C->A 12 69992370 69992370 C A snp 117.77 0/1 60 6 2 4 0.67 intronic rs141346408 CCT2 AU NM_001198842 exon14 c.11606+169C>A 0.000998403 0.005 Uncertain 12_69993501_A->G 12 69993501 69993501 A G snp 83.77 0/1 63 5 2 3 0.6 intronic rs35642 CCT2 AU NM_001198842 exon15 c.13047-141A>G 0.523962 0.6032 Uncertain 12_70037520_G->A 12 70037520 70037520 G A snp 2070.77 0/1 99 198 106 92 0.46 exonic rs61747221 BEST3 AU nonsynonymous SNV NM_001282614 exon10 c.C1148T p.P383L 0.137979 0.2341 0.0998 0.2510 0.1 T 0.0 P -0.830 T 0.037 T 0.032 T Pathogenic 12_70066856_C->T 12 70066856 70066856 C T snp 948.77 0/1 99 71 29 42 0.59 intronic rs2277389 BEST3 AU NM_152439 exon3 c.18059+111C>T 0.0934505 0.2321 Uncertain 12_70070942_A->G 12 70070942 70070942 A G snp 4761.77 1/1 99 173 0 173 1.0 intronic rs710718 BEST3 AU NM_152439 exon4 c.22273-17A>G 0.945887 1 0.949959 0.9864 0.9999 Uncertain 12_70078172_C->T 12 70078172 70078172 C T snp 229.77 0/1 99 14 6 8 0.57 UTR3 rs710714 BEST3 AU 0.750399 0.7609 Uncertain 12_70088086_GT->- 12 70088086 70088087 GT - indel 1452.73 0/1 99 76 45 31 0.41 intronic rs3050191 BEST3 AU NM_001282616 exon3 c.9817-63_9817-62delGT 0.271166 0.4196 Uncertain 12_70091356_G->T 12 70091356 70091356 G T snp 185.9 1/1 15 6 0 6 1.0 intronic rs710710 BEST3 AU NM_032735 exon9 c.42740-70G>T 0.434105 0.7063 Uncertain 12_70091432_T->C 12 70091432 70091432 T C snp 705.77 1/1 51 25 0 25 1.0 exonic rs775429 BEST3 AU synonymous SNV NM_001282614 exon2 c.A147G p.V49V 0.973243 1 0.976391 0.9933 1 Uncertain 12_70178374_T->C 12 70178374 70178374 T C snp 56.74 1/1 6 2 0 2 1.0 intronic rs1602954 RAB3IP AU NM_175625 exon4 c.44873-125T>C 0.301118 0.2589 Uncertain 12_70195293_T->G 12 70195293 70195293 T G snp 267.8 1/1 21 8 0 8 1.0 intronic rs10879014 RAB3IP AU NM_175625 exon8 c.61762-95T>G 0.78774 0.8909 Uncertain 12_70206895_TAG->- 12 70206895 70206897 TAG - indel 387.73 0/1 99 27 15 12 0.44 intronic rs1305051 RAB3IP AU NM_175625 exon9 c.73187+82_73187+84delTAG 0.214657 0.4107 Uncertain 12_70209122_TC->- 12 70209122 70209123 TC - indel 1834.73 0/1 99 101 55 46 0.46 intronic rs139555957 RAB3IP AU NM_175625 exon10 c.75517-21_75517-20delTC 0.164537 0.4117 0.062300 0.1192 0.4102 Uncertain 12_70273303_C->G 12 70273303 70273303 C G snp 565.77 1/1 45 15 0 15 1.0 intergenic rs1240286 RAB3IP AU 0.935903 0.9266 Uncertain 12_70273985_T->G 12 70273985 70273985 T G snp 1668.77 0/1 99 174 98 76 0.44 intergenic rs7295793 RAB3IP AU 0.235423 0.1597 0.2600 0.1667 Uncertain 12_70274101_G->A 12 70274101 70274101 G A snp 910.77 0/1 99 106 62 44 0.42 intergenic rs7310544 RAB3IP AU 0.344848 0.1964 0.4275 0.1842 Uncertain 12_70274160_G->A 12 70274160 70274160 G A snp 1003.77 1/1 75 30 0 30 1.0 intergenic rs1240287 RAB3IP AU 0.983427 1 Uncertain 12_70280797_T->C 12 70280797 70280797 T C snp 1339.77 1/1 96 45 0 45 1.0 intergenic rs1612447 RAB3IP AU 0.983227 1 0.9980 1 Uncertain 12_70320254_A->G 12 70320254 70320254 A G snp 83.77 0/1 65 5 2 3 0.6 intergenic rs1152964 RAB3IP AU 0.235623 0.2798 Uncertain 12_70320713_G->T 12 70320713 70320713 G T snp 90.28 1/1 9 3 0 3 1.0 intergenic rs7971898 RAB3IP AU Uncertain 12_70321450_C->T 12 70321450 70321450 C T snp 668.77 1/1 48 27 0 27 1.0 intergenic rs1239822 RAB3IP AU 0.73722 0.9861 0.7025 0.9896 Uncertain 12_70330087_A->G 12 70330087 70330087 A G snp 5394.77 1/1 99 185 1 184 0.99 intergenic rs813147 RAB3IP AU 0.698882 0.7669 0.7297 0.7475 0.000 P -1.029 T Uncertain 12_70351684_C->A 12 70351684 70351684 C A snp 1903.77 0/1 99 152 73 79 0.52 intergenic rs10879065 RAB3IP AU 0.323682 0.4891 0.3850 0.5053 0.3 T 0.0 P -0.927 T 0.0 T 0.001 T Uncertain 12_70351905_A->G 12 70351905 70351905 A G snp 544.77 0/1 99 38 19 19 0.5 intergenic rs2307086 RAB3IP AU 0.267971 0.4802 Uncertain 12_70352021_C->T 12 70352021 70352021 C T snp 2602.77 0/1 99 221 104 117 0.53 intergenic rs2307087 RAB3IP AU 0.387979 0.4812 0.3714 0.4949 Uncertain 12_70352199_T->- 12 70352199 70352199 T - indel 349.73 0/1 99 47 23 24 0.51 intergenic rs35912210 RAB3IP AU 0.236022 0.4792 0.2954 0.5298 Uncertain 12_70731123_A->G 12 70731123 70731123 A G snp 250.77 0/1 99 47 33 14 0.3 intronic rs10506590 CNOT2 AU NM_001199302 exon10 c.59162-45A>G 0.143371 0.4643 0.020237 0.0768 0.4704 Uncertain 12_70737854_T->- 12 70737854 70737854 T - indel 548.73 0/1 99 31 15 16 0.52 intronic rs3215328 CNOT2 AU NM_001199302 exon15 c.65901-53delT 0.242013 0.2242 0.2002 0.2532 Uncertain 12_70740194_G->A 12 70740194 70740194 G A snp 522.77 0/1 99 32 14 18 0.56 intronic rs3817487 CNOT2 AU NM_001199302 exon16 c.68098+90G>A 0.570487 0.4613 Uncertain 12_70914045_-->AAGT 12 70914045 70914045 - AAGT indel 8163.73 1/1 99 181 0 181 1.0 UTR3 rs142936338 PTPRB AU 0.0978435 0.1419 0.051555 0.0685 0.1123 Uncertain 12_70915347_A->G 12 70915347 70915347 A G snp 3873.77 1/1 99 153 0 153 1.0 intronic rs369876 PTPRB AU NM_001109754 exon1 c.23+56A>G 0.980032 0.999 0.959045 Uncertain 12_70928724_A->G 12 70928724 70928724 A G snp 2305.77 1/1 99 83 0 83 1.0 exonic rs582954 PTPRB AU synonymous SNV NM_001109754 exon30 c.T6093C p.D2031D 0.980032 0.999 0.962110 0.9668 0.9999 Uncertain 12_70932245_G->A 12 70932245 70932245 G A snp 214.84 1/1 18 6 0 6 1.0 intronic rs4761150 PTPRB AU NM_001109754 exon7 c.16743+234G>A 0.970048 0.999 Uncertain 12_70933687_A->G 12 70933687 70933687 A G snp 4470.77 1/1 99 168 0 168 1.0 intronic rs919595 PTPRB AU NM_001109754 exon11 c.18450-31A>G 0.579673 0.495 0.595135 0.6134 0.4986 Uncertain 12_70933919_C->T 12 70933919 70933919 C T snp 93.28 1/1 9 3 0 3 1.0 intronic rs599619 PTPRB AU NM_001109754 exon11 c.18534+117C>T 0.980032 0.999 Uncertain 12_70938176_G->A 12 70938176 70938176 G A snp 1104.77 1/1 81 33 0 33 1.0 intronic rs4761221 PTPRB AU NM_001109754 exon13 c.23068-160G>A 0.474241 0.4702 Uncertain 12_70948833_A->C 12 70948833 70948833 A C snp 180.77 0/1 99 20 13 7 0.35 intronic rs2278342 PTPRB AU NM_001109754 exon15 c.33671-106A>C 0.283347 0.6111 Uncertain 12_70949620_G->A 12 70949620 70949620 G A snp 219.84 1/1 18 7 0 7 1.0 intronic rs2278341 PTPRB AU NM_001109754 exon16 c.34381-29G>A 0.309704 0.1905 0.368583 0.3476 0.2169 Uncertain 12_70949973_-->T 12 70949973 70949973 - T indel 372.73 0/1 99 53 21 32 0.6 intronic rs11424259 PTPRB AU NM_001109754 exon16 c.34660+45insT 0.302117 0.1508 0.289011 0.2504 0.1779 Uncertain 12_70953277_T->C 12 70953277 70953277 T C snp 2139.77 0/1 99 202 112 90 0.45 exonic rs2303963 PTPRB AU synonymous SNV NM_001109754 exon18 c.A4560G p.A1520A 0.200879 0.1369 0.205677 0.2162 0.1532 Uncertain 12_70953456_T->C 12 70953456 70953456 T C snp 1338.77 0/1 99 80 27 53 0.66 intronic rs2303962 PTPRB AU NM_001109754 exon17 c.38136+52T>C 0.199081 0.1339 0.201649 Uncertain 12_70953477_C->T 12 70953477 70953477 C T snp 1039.77 0/1 99 60 19 41 0.68 intronic rs34465365 PTPRB AU NM_001109754 exon17 c.38136+73C>T 0.199081 0.1339 Uncertain 12_70954814_G->A 12 70954814 70954814 G A snp 1028.77 0/1 99 70 30 40 0.57 intronic rs12580379 PTPRB AU NM_001109754 exon18 c.39446+100G>A 0.171126 0.131 Uncertain 12_70956443_A->G 12 70956443 70956443 A G snp 170.9 1/1 15 5 0 5 1.0 intronic rs2567132 PTPRB AU NM_001109754 exon19 c.41355-180A>G 0.985423 1 Uncertain 12_70956935_G->A 12 70956935 70956935 G A snp 186.77 0/1 99 27 19 8 0.3 intronic rs11178291 PTPRB AU NM_001109754 exon19 c.41619+48G>A 0.186901 0.131 0.182469 0.2175 0.1712 Uncertain 12_70960071_G->A 12 70960071 70960071 G A snp 161.77 0/1 63 8 2 6 0.75 intronic rs2116211 PTPRB AU NM_001109754 exon20 c.44946-143G>A 0.281949 0.246 Uncertain 12_70965764_G->A 12 70965764 70965764 G A snp 1910.77 0/1 99 183 101 82 0.45 exonic rs1561799 PTPRB AU synonymous SNV NM_001109754 exon12 c.C2946T p.V982V 0.120208 0.2093 0.026950 0.0959 0.2301 Uncertain 12_70970449_C->G 12 70970449 70970449 C G snp 120.03 1/1 12 4 0 4 1.0 intronic rs11178304 PTPRB AU NM_001109754 exon24 c.55157+24C>G 0.996406 0.998 0.4889 0.5 Uncertain 12_70989977_T->C 12 70989977 70989977 T C snp 910.77 0/1 99 86 46 40 0.47 exonic rs11178317 PTPRB AU synonymous SNV NM_001109754 exon5 c.A1110G p.Q370Q 0.170327 0.2103 0.123163 0.1517 0.2199 Uncertain 12_70990054_T->C 12 70990054 70990054 T C snp 816.77 0/1 99 71 35 36 0.51 exonic rs2465811 PTPRB AU nonsynonymous SNV NM_001109754 exon5 c.A1033G p.S345G 0.320088 0.3026 0.315301 0.2890 0.3112 0.04 T 0.983 P -0.999 T 0.281 T 0.208 T ID=CM086290;DIS=Drug addiction, association with;TAG=DP;PUB=18361428 DP Pathogenic 12_70990136_A->C 12 70990136 70990136 A C snp 315.31 0/1 1 14 2 12 0.86 intronic rs6581949 PTPRB AU NM_001109754 exon30 c.74839+29A>C 0.159345 0.2024 0.1482 0.2652 Uncertain 12_71002865_T->A 12 71002865 71002865 T A snp 2323.77 0/1 99 199 92 107 0.54 exonic rs2717430 PTPRB AU synonymous SNV NM_001109754 exon4 c.A963T p.T321T 0.599441 0.5982 0.489462 0.4727 0.6037 0.0 P -1.007 T Likely benign 12_71002893_C->T 12 71002893 71002893 C T snp 2494.77 0/1 99 200 93 107 0.54 exonic rs2252784 PTPRB AU nonsynonymous SNV NM_001109754 exon4 c.G935A p.R312K 0.591254 0.5982 0.481796 0.4706 0.6032 0.89 T 0.000 P -0.919 T 0.033 T 0.091 T Pathogenic 12_71003360_T->C 12 71003360 71003360 T C snp 994.77 0/1 99 79 40 39 0.49 intronic rs2717431 PTPRB AU NM_001206972 exon31 c.88272-180T>C 0.581869 0.5575 Uncertain 12_71003424_G->A 12 71003424 71003424 G A snp 2099.77 0/1 99 200 108 92 0.46 intronic rs7961490 PTPRB AU NM_001206972 exon31 c.88272-116G>A 0.201078 0.2054 Uncertain 12_71029366_AAAC->- 12 71029366 71029369 AAAC - indel 2586.73 1/1 99 43 0 43 1.0 intronic PTPRB AU NM_001109754 exon33 c.114182-84_114182-81delAAAC 0.261182 0.4177 Uncertain 12_71029431_C->T 12 71029431 71029431 C T snp 4799.77 1/1 99 167 0 167 1.0 intronic rs2717417 PTPRB AU NM_001109754 exon33 c.114182-19C>T 0.467652 0.5218 0.298032 0.2885 0.5113 Uncertain 12_71029733_C->T 12 71029733 71029733 C T snp 2497.77 1/1 99 93 0 93 1.0 exonic rs2584021 PTPRB AU nonsynonymous SNV NM_001109754 exon2 c.G169A p.D57N 0.253794 0.4028 0.108315 0.1528 0.3582 0.11 T 1.0 P -0.933 T 0.1 T 0.066 T Pathogenic 12_71050694_-->A 12 71050694 71050694 - A indel 363.73 0/1 99 19 4 15 0.79 intronic rs5798997 PTPRR AU NM_002849 exon2 c.17634+97insA 0.316893 0.3681 Uncertain 12_71054946_C->A 12 71054946 71054946 C A snp 2496.77 0/1 99 249 139 110 0.44 intronic rs75405399 PTPRR AU NM_002849 exon3 c.21914+69C>A 0.106829 0.2669 0.0822 0.3218 Uncertain 12_71139664_T->C 12 71139664 71139664 T C snp 2397.77 1/1 99 95 0 95 1.0 exonic rs3803036 PTPRR AU nonsynonymous SNV NM_130846 exon2 c.A206G p.K69R 0.678315 0.9385 0.647932 0.7623 0.9214 0.51 T 0.000 P -1.021 T 0.002 T 0.002 T Pathogenic 12_71158351_C->T 12 71158351 71158351 C T snp 1542.77 0/1 99 135 71 64 0.47 intronic rs541459187 PTPRR AU NM_002849 exon12 c.125481-93C>T 0.000399361 0.002 Uncertain 12_71509608_CTCT->- 12 71509608 71509611 CTCT - indel 1671.73 0/1 99 53 22 31 0.58 intergenic rs142544250 PTPRR AU 0.258586 0.2887 0.4246 0.3426 Uncertain 12_71509652_T->A 12 71509652 71509652 T A snp 943.77 0/1 99 74 31 43 0.58 intergenic rs34349223 PTPRR AU 0.258586 0.2887 0.3350 0.2803 0 D -0.920 T Uncertain 12_71509793_A->C 12 71509793 71509793 A C snp 420.77 0/1 99 31 15 16 0.52 intergenic rs36021752 PTPRR AU 0.258786 0.2887 Uncertain 12_71509836_C->T 12 71509836 71509836 C T snp 119.77 0/1 99 9 5 4 0.44 intergenic rs1796329 PTPRR AU 0.49401 0.4415 Uncertain 12_71511995_T->C 12 71511995 71511995 T C snp 105.77 0/1 99 9 5 4 0.44 intergenic rs2643655 PTPRR AU 0.494808 0.4415 0.4766 0.5536 Uncertain 12_71519096_G->C 12 71519096 71519096 G C snp 2176.77 0/1 99 187 95 92 0.49 UTR3 rs1051344 TSPAN8 AU 0.258786 0.2887 0.339997 0.3491 0.3077 Uncertain 12_71523043_C->A 12 71523043 71523043 C A snp 215.77 0/1 99 27 15 12 0.44 intronic rs1705263 TSPAN8 AU NM_004616 exon2 c.3997-67C>A 0.475439 0.4454 Uncertain 12_71523134_A->C 12 71523134 71523134 A C snp 489.77 0/1 99 54 30 24 0.44 exonic rs1051334 TSPAN8 AU nonsynonymous SNV NM_004616 exon8 c.T637G p.S213A 0.250799 0.2877 0.335489 0.3449 0.3095 1 T 0.0 P -0.957 T 0.0 T 0.0 T Pathogenic 12_71523200_AA->- 12 71523200 71523201 AA - indel 424.73 0/1 99 37 16 21 0.57 splicing rs143821581 TSPAN8 AU NM_004616 exon2 c.4081+6_4081+7delAA 0.4166 0.3787 Pathogenic 12_71526414_T->C 12 71526414 71526414 T C snp 177.77 0/1 99 15 8 7 0.47 intronic rs2270588 TSPAN8 AU NM_004616 exon3 c.7359-58T>C 0.391973 0.5724 Uncertain 12_71526677_A->G 12 71526677 71526677 A G snp 513.77 0/1 99 34 15 19 0.56 intronic rs1397566 TSPAN8 AU NM_004616 exon3 c.7491+73A>G 0.334065 0.1597 Uncertain 12_71526709_C->T 12 71526709 71526709 C T snp 185.77 0/1 99 14 7 7 0.5 intronic rs3816942 TSPAN8 AU NM_004616 exon3 c.7491+105C>T 0.391973 0.5724 Uncertain 12_71531663_A->T 12 71531663 71531663 A T snp 40.77 0/1 69 5 3 2 0.4 intronic rs2270585 TSPAN8 AU NM_004616 exon4 c.12619-69A>T 0.25 0.2847 Uncertain 12_71531889_T->C 12 71531889 71531889 T C snp 1739.77 0/1 99 161 79 82 0.51 intronic rs1798093 TSPAN8 AU NM_004616 exon5 c.12822-46T>C 0.333466 0.1607 0.408888 0.3573 0.1698 Uncertain 12_71532099_G->A 12 71532099 71532099 G A snp 236.77 0/1 99 22 14 8 0.36 intronic rs2270584 TSPAN8 AU NM_004616 exon5 c.12897+89G>A 0.25 0.2847 Uncertain 12_71532879_A->G 12 71532879 71532879 A G snp 1503.77 0/1 99 250 175 75 0.3 intronic rs77625335 TSPAN8 AU NM_004616 exon6 c.14377-611A>G 0.058107 0.1399 Uncertain 12_71532922_A->C 12 71532922 71532922 A C snp 2171.77 0/1 99 250 165 85 0.34 intronic rs2971392 TSPAN8 AU NM_004616 exon6 c.14377-568A>C 0.2396 0.2015 Uncertain 12_71533067_A->T 12 71533067 71533067 A T snp 1564.77 0/1 99 234 161 73 0.31 intronic rs77376607 TSPAN8 AU NM_004616 exon6 c.14377-423A>T 0.0579073 0.1399 Uncertain 12_71533534_C->G 12 71533534 71533534 C G snp 1231.77 0/1 99 122 68 54 0.44 exonic rs3763978 TSPAN8 AU nonsynonymous SNV NM_004616 exon4 c.G218C p.G73A 0.227037 0.2847 0.308242 0.3332 0.3076 0.01 T 1.0 P -1.673 T 0.999 D 0.989 D Pathogenic 12_71533622_C->T 12 71533622 71533622 C T snp 896.77 0/1 99 62 28 34 0.55 exonic rs79443892 TSPAN8 AU nonsynonymous SNV NM_004616 exon4 c.G130A p.G44S 0.0611022 0.1488 0.013071 0.0415 0.1680 0.82 T 0.0 P -1.019 T 0.0 T 0.0 T Pathogenic 12_71947173_G->A 12 71947173 71947173 G A snp 590.77 0/1 99 43 22 21 0.49 intronic rs1148985 LGR5 AU NM_001277226 exon5 c.113208+105G>A 0.391573 0.3403 Uncertain 12_71953540_G->C 12 71953540 71953540 G C snp 194.77 0/1 99 11 5 6 0.55 intronic rs3765015 LGR5 AU NM_001277226 exon7 c.119574+106G>C 0.205871 0.3968 Uncertain 12_71953542_T->G 12 71953542 71953542 T G snp 197.77 0/1 96 10 4 6 0.6 intronic rs3765016 LGR5 AU NM_001277226 exon7 c.119574+108T>G 0.205871 0.3968 Uncertain 12_71955394_T->C 12 71955394 71955394 T C snp 59.74 1/1 6 4 1 3 0.75 intronic rs1280603 LGR5 AU NM_001277227 exon7 c.121700-166T>C 0.919728 1 Uncertain 12_71960208_G->A 12 71960208 71960208 G A snp 1214.77 1/1 87 47 0 47 1.0 exonic rs1797372 LGR5 AU synonymous SNV NM_001277226 exon8 c.G810A p.Q270Q 0.872005 0.995 0.865405 0.9504 0.9958 Uncertain 12_71960329_G->A 12 71960329 71960329 G A snp 1485.77 1/1 99 51 0 51 1.0 intronic rs1797373 LGR5 AU NM_001277226 exon8 c.126395+74G>A 0.871605 0.995 Uncertain 12_71960533_G->A 12 71960533 71960533 G A snp 7479.77 1/1 99 250 0 250 1.0 intronic rs1797374 LGR5 AU NM_001277226 exon9 c.126620+53G>A 0.872005 0.995 0.882830 Uncertain 12_71960584_T->C 12 71960584 71960584 T C snp 7465.77 1/1 99 250 0 250 1.0 intronic rs1726469 LGR5 AU NM_001277226 exon10 c.126760-36T>C 0.872005 0.995 0.865524 0.9502 0.9958 Uncertain 12_71965171_A->G 12 71965171 71965171 A G snp 119.77 0/1 99 7 3 4 0.57 intronic rs3816060 LGR5 AU NM_001277226 exon11 c.131433-122A>G 0.276757 0.4573 Uncertain 12_71966836_G->A 12 71966836 71966836 G A snp 800.77 0/1 99 87 54 33 0.38 intronic rs11178860 LGR5 AU NM_001277226 exon12 c.132841+135G>A 0.243011 0.4573 Uncertain 12_72007084_G->A 12 72007084 72007084 G A snp 937.77 0/1 99 75 32 43 0.57 intronic rs7305505 ZFC3H1 AU NM_144982 exon5 c.2907-30G>A 0.199081 0.4534 0.082994 0.1659 0.4731 Uncertain 12_72008246_T->G 12 72008246 72008246 T G snp 311.77 0/1 99 32 19 13 0.41 intronic rs2288963 ZFC3H1 AU NM_144982 exon6 c.4107-68T>G 0.213059 0.3641 Uncertain 12_72018028_A->G 12 72018028 72018028 A G snp 1049.77 0/1 99 95 48 47 0.49 exonic rs2304272 ZFC3H1 AU synonymous SNV NM_144982 exon23 c.T4362C p.C1454C 0.0553115 0.1776 0.037690 0.0598 0.2034 Uncertain 12_72019989_-->AC 12 72019989 72019989 - AC indel 5841.73 ./1 99 104 2 102 0.98 intronic rs397747312 ZFC3H1 AU NM_144982 exon14 c.15832-50insAC 0.625599 0.7946 Uncertain 12_72019989_-->ACACACAC 12 72019989 72019989 - ACACACAC indel 5841.73 ./1 99 104 2 102 0.98 intronic ZFC3H1 AU NM_144982 exon14 c.15832-50insACACACAC Uncertain 12_72023337_AC->- 12 72023337 72023338 AC - indel 566.73 0/1 99 42 23 19 0.45 intronic ZFC3H1 AU NM_144982 exon17 c.19181-51_19181-50delAC Uncertain 12_72036499_G->C 12 72036499 72036499 G C snp 600.77 1/1 45 15 0 15 1.0 intronic rs1149010 ZFC3H1 AU NM_144982 exon30 c.32132+160G>C 0.963059 1 Uncertain 12_72058416_G->T 12 72058416 72058416 G T snp 1097.77 1/1 44 41 2 39 0.95 intronic rs3741691 THAP2 AU NM_031435 exon1 c.71+56G>T 0.465056 0.8204 0.254490 Uncertain 12_72067966_-->T 12 72067966 72067966 - T indel 493.73 1/1 49 29 1 28 0.97 intronic rs397754131 THAP2 AU NM_031435 exon2 c.9693-16insT 0.398225 0.4522 0.6583 Uncertain 12_72080272_T->C 12 72080272 72080272 T C snp 278.77 0/1 99 25 15 10 0.4 UTR5 rs2304269 TMEM19 AU 0.16893 0.4653 Uncertain 12_72090078_T->C 12 72090078 72090078 T C snp 96.28 1/1 9 3 0 3 1.0 intronic rs10506640 TMEM19 AU NM_018279 exon3 c.9755-137T>C 0.31889 0.3641 Uncertain 12_72091025_T->G 12 72091025 72091025 T G snp 920.77 1/1 66 38 0 38 1.0 intronic rs3741690 TMEM19 AU NM_018279 exon4 c.10599-34T>G 0.611821 0.8284 0.3974 0.8288 Uncertain 12_72164248_T->C 12 72164248 72164248 T C snp 264.77 0/1 99 24 10 14 0.58 intronic rs3741689 RAB21 AU NM_014999 exon3 c.15462-123T>C 0.160942 0.3105 Uncertain 12_72164395_C->T 12 72164395 72164395 C T snp 896.77 0/1 99 70 27 43 0.61 exonic rs3741688 RAB21 AU synonymous SNV NM_014999 exon3 c.C243T p.F81F 0.160543 0.3105 0.077580 0.1356 0.3170 Uncertain 12_72233340_G->A 12 72233340 72233340 G A snp 385.77 0/1 99 32 17 15 0.47 upstream rs3809148 TBC1D15 AU 0.11881 0.3006 Uncertain 12_72233713_T->C 12 72233713 72233713 T C snp 120.77 0/1 58 7 2 5 0.71 intronic rs2554954 TBC1D15 AU NM_001146213 exon1 c.30+122T>C 0.0988419 0.0744 Uncertain 12_72248423_T->C 12 72248423 72248423 T C snp 1644.77 0/1 99 110 47 63 0.57 intronic rs2468335 TBC1D15 AU NM_001146213 exon1 c.30+14832T>C 0.0988419 0.0734 0.1184 0.0960 Uncertain 12_72255388_G->C 12 72255388 72255388 G C snp 77.77 0/1 99 9 5 4 0.44 intronic rs7296729 TBC1D15 AU NM_001146214 exon2 c.54+112G>C 0.0978435 0.0685 Uncertain 12_72287159_T->C 12 72287159 72287159 T C snp 431.77 0/1 99 45 26 19 0.42 intronic rs10467177 TBC1D15 AU NM_001146213 exon6 c.53543+55T>C 0.363219 0.2907 Uncertain 12_72307616_A->G 12 72307616 72307616 A G snp 1379.77 1/1 99 55 0 55 1.0 exonic rs3759171 TBC1D15 AU synonymous SNV NM_001146213 exon12 c.A1311G p.Q437Q 0.665735 0.8819 0.470398 0.4531 0.9018 Uncertain 12_72307637_C->G 12 72307637 72307637 C G snp 255.77 0/1 99 53 38 15 0.28 exonic rs11178983 TBC1D15 AU synonymous SNV NM_001146213 exon12 c.C1332G p.S444S 0.0628994 0.0734 0.057051 0.0745 0.0799 Uncertain 12_72355179_A->G 12 72355179 72355179 A G snp 370.77 1/1 30 10 0 10 1.0 intronic rs1386493 TPH2 AU NM_173353 exon6 c.33532-11119A>G 0.763179 0.8016 Uncertain 12_72366186_C->T 12 72366186 72366186 C T snp 206.84 1/1 18 6 0 6 1.0 intronic rs7963720 TPH2 AU NM_173353 exon6 c.33532-112C>T 0.468251 0.4514 Uncertain 12_72372601_C->T 12 72372601 72372601 C T snp 952.77 1/1 69 33 0 33 1.0 intronic rs4760816 TPH2 AU NM_173353 exon7 c.39965-130C>T 0.536342 0.4484 Uncertain 12_72372862_A->G 12 72372862 72372862 A G snp 3731.77 1/1 99 140 0 140 1.0 exonic rs7305115 TPH2 AU synonymous SNV NM_173353 exon7 c.A936G p.P312P 0.541733 0.4494 0.581885 0.5647 0.4751 ID=CM077900;DIS=Increased mRNA expression;TAG=FP;PUB=17453063 FP Uncertain 12_72388374_G->T 12 72388374 72388374 G T snp 3017.77 1/1 99 109 0 109 1.0 intronic rs1007023 TPH2 AU NM_173353 exon8 c.55579+29G>T 0.879792 0.9454 0.831001 0.8712 0.9569 Uncertain 12_72416235_A->T 12 72416235 72416235 A T snp 2413.77 0/1 99 184 81 103 0.56 exonic rs4290270 TPH2 AU synonymous SNV NM_173353 exon9 c.A1125T p.A375A 0.48722 0.4663 0.566200 0.5732 0.4860 ID=CM100837;DIS=Suicide, association with;TAG=DP;PUB=20126463 DP Uncertain 12_72666485_A->G 12 72666485 72666485 A G snp 379.77 0/1 29 14 2 12 0.86 ncRNA_exonic rs74594364 TRHDE-AS1 AU 0.839657 0.9177 Uncertain 12_72666488_G->A 12 72666488 72666488 G A snp 385.77 0/1 41 16 2 14 0.88 ncRNA_exonic rs78720771 TRHDE-AS1 AU 0.839657 0.9177 Uncertain 12_72666499_A->G 12 72666499 72666499 A G snp 535.77 0/1 49 21 4 17 0.81 ncRNA_exonic rs79761722 TRHDE-AS1 AU 0.839657 0.9177 0.1999 0.3456 Uncertain 12_72893531_T->G 12 72893531 72893531 T G snp 32.77 0/1 61 10 7 3 0.3 intronic rs1444607 TRHDE AU NM_013381 exon6 c.226857+116T>G 0.458267 0.506 Uncertain 12_72935947_G->C 12 72935947 72935947 G C snp 66.77 0/1 95 9 6 3 0.33 intronic rs723867 TRHDE AU NM_013381 exon7 c.269512-123G>C 0.464457 0.5099 Uncertain 12_74932159_G->C 12 74932159 74932159 G C snp 2425.77 1/1 99 85 0 85 1.0 exonic rs590352 ATXN7L3B AU synonymous SNV NM_001136262 exon1 c.G267C p.L89L 0.669329 0.9058 0.620237 0.7231 0.9130 Uncertain 12_75601807_G->A 12 75601807 75601807 G A snp 1911.77 0/1 99 146 73 73 0.5 intronic rs75821730 KCNC2 AU NM_139136 exon5 c.165690+25G>A 0.0303514 0.1131 0.004023 0.0156 0.1208 Uncertain 12_75687185_G->A 12 75687185 75687185 G A snp 625.77 1/1 45 23 0 23 1.0 intronic rs7967562 CAPS2 AU NM_032606 exon6 c.17125+38G>A 0.625799 0.7073 0.568671 0.6262 0.7033 Uncertain 12_75692755_A->T 12 75692755 75692755 A T snp 588.77 1/1 45 17 0 17 1.0 intronic rs7296952 CAPS2 AU NM_032606 exon8 c.22724+9A>T 0.388978 0.3423 0.320467 0.3429 0.3394 Uncertain 12_75693520_C->T 12 75693520 75693520 C T snp 282.8 1/1 21 13 0 13 1.0 intronic rs11180451 CAPS2 AU NM_032606 exon9 c.23594-96C>T 0.240216 0.2808 Uncertain 12_75693531_A->C 12 75693531 75693531 A C snp 329.78 1/1 24 16 0 16 1.0 intronic rs61932923 CAPS2 AU NM_032606 exon9 c.23594-85A>C 0.240216 0.2808 Uncertain 12_75693751_G->A 12 75693751 75693751 G A snp 235.84 1/1 18 10 0 10 1.0 intronic rs7301532 CAPS2 AU NM_032606 exon9 c.23669+60G>A 0.345248 0.2808 0.268560 Uncertain 12_75784773_C->T 12 75784773 75784773 C T snp 165.77 0/1 99 22 13 9 0.41 upstream rs7978856 CAPS2 AU 0.320887 0.4673 Uncertain 12_75785100_C->T 12 75785100 75785100 C T snp 2772.77 0/1 99 250 134 116 0.46 exonic rs11180483 GLIPR1L2 AU synonymous SNV NM_001270396 exon1 c.C204T p.V68V 0.322284 0.4673 0.354606 0.3550 0.4570 Uncertain 12_75785468_G->A 12 75785468 75785468 G A snp 768.77 1/1 57 25 0 25 1.0 intronic rs4393363 GLIPR1L2 AU NM_152436 exon1 c.234+338G>A 0.546725 0.5933 Uncertain 12_75785481_-->A 12 75785481 75785481 - A indel 195.73 0/1 99 18 5 13 0.72 intronic rs397809329 GLIPR1L2 AU NM_152436 exon1 c.234+351insA 0.185104 0.123 Uncertain 12_75796721_G->T 12 75796721 75796721 G T snp 412.77 0/1 99 43 28 15 0.35 intronic rs7135440 GLIPR1L2 AU NM_152436 exon2 c.19317-7492G>T 0.304712 0.4683 Uncertain 12_75796803_-->A 12 75796803 75796803 - A indel 2747.73 0/1 99 148 70 78 0.53 intronic rs78158439 GLIPR1L2 AU NM_152436 exon2 c.19317-7410insA 0.0215655 0.1042 0.0030 0.095 Uncertain 12_75816612_C->G 12 75816612 75816612 C G snp 71.77 0/1 99 12 8 4 0.33 intronic rs1543946 GLIPR1L2 AU NM_152436 exon4 c.31787-71C>G 0.342053 0.4683 Uncertain 12_75816814_-->ACA 12 75816814 75816814 - ACA indel 1326.73 0/1 99 47 18 29 0.62 intronic rs144850646 GLIPR1L2 AU NM_001270396 exon4 c.31873+45insACA 0.342252 0.4683 0.353890 0.3618 0.4590 Uncertain 12_75824460_T->C 12 75824460 75824460 T C snp 642.77 0/1 99 56 32 24 0.43 intronic rs12833944 GLIPR1L2 AU NM_001270396 exon5 c.39598-34T>C 0.184904 0.123 0.1874 0.1071 Uncertain 12_75824893_G->A 12 75824893 75824893 G A snp 189.77 0/1 99 13 5 8 0.62 exonic rs12423750 GLIPR1L2 AU synonymous SNV NM_001270396 exon6 c.G987A p.E329E 0.184904 0.123 0.2110 0.1517 Uncertain 12_75874913_G->A 12 75874913 75874913 G A snp 309.77 0/1 99 15 6 9 0.6 intronic rs2242435 GLIPR1 AU NM_006851 exon1 c.174+79G>A 0.345447 0.5119 Uncertain 12_75875576_C->T 12 75875576 75875576 C T snp 1660.77 0/1 99 142 75 67 0.47 intronic rs1909979 GLIPR1 AU NM_006851 exon2 c.953-37C>T 0.310703 0.4692 0.330923 0.3563 0.4559 Uncertain 12_75875995_G->T 12 75875995 75875995 G T snp 31.77 0/1 60 4 2 2 0.5 intronic rs2292009 GLIPR1 AU NM_006851 exon2 c.1199+136G>T 0.310903 0.4702 Uncertain 12_75884357_C->A 12 75884357 75884357 C A snp 96.77 0/1 99 20 14 6 0.3 intronic rs55711930 GLIPR1 AU NM_006851 exon3 c.9638+59C>A 0.247604 0.1389 Uncertain 12_75884362_AC->- 12 75884362 75884363 AC - indel 452.94 1/1 13 20 4 16 0.8 intronic rs150016880 GLIPR1 AU NM_006851 exon3 c.9638+64_9638+65delAC 0.409145 0.5288 Uncertain 12_75884364_A->- 12 75884364 75884364 A - indel 206.74 1/1 30 19 1 18 0.95 intronic rs55774067 GLIPR1 AU NM_006851 exon3 c.9638+66delA Uncertain 12_75895619_T->C 12 75895619 75895619 T C snp 487.77 0/1 99 34 14 20 0.59 UTR3 rs2306391 GLIPR1 AU 0.244409 0.122 0.245459 0.2670 0.1245 Uncertain 12_75900382_C->T 12 75900382 75900382 C T snp 233.77 0/1 99 24 14 10 0.42 exonic rs11540407 KRR1 AU nonsynonymous SNV NM_007043 exon4 c.G401A p.R134Q 0.232029 0.121 0.232698 0.2540 0.1157 0.01 T 1.000 P -1.113 T 1.0 D 0.899 D Pathogenic 12_75900588_A->G 12 75900588 75900588 A G snp 1083.77 0/1 99 127 77 50 0.39 exonic rs2070162 KRR1 AU synonymous SNV NM_007043 exon3 c.T367C p.L123L 0.232228 0.121 0.233969 0.2552 0.1159 Uncertain 12_75900702_G->A 12 75900702 75900702 G A snp 3339.77 1/1 99 118 0 118 1.0 splicing rs2704766 KRR1 AU NM_007043 exon8 c.7108+6G>A 0.609225 0.5804 0.630345 0.6257 0.5599 Pathogenic 12_76357686_A->C 12 76357686 76357686 A C snp 296.77 0/1 99 25 14 11 0.44 intergenic rs17115989 KRR1 AU 0.242412 0.2748 Uncertain 12_76424153_T->C 12 76424153 76424153 T C snp 173.9 1/1 15 5 0 5 1.0 intronic rs1433369 PHLDA1 AU 0.979034 1 Uncertain 12_76424615_C->T 12 76424615 76424615 C T snp 1524.77 0/1 99 112 55 57 0.51 exonic rs78921231 PHLDA1 AU nonsynonymous SNV NM_007350 exon1 c.G907A p.V303I 0.00599042 0.0298 0.0039 0.0612 0 D 0.983 D -0.897 T 0.988 D 0.892 D Pathogenic 12_76424938_TGC->- 12 76424938 76424940 TGC - indel 6922.73 1/1 99 164 0 164 1.0 exonic rs111754051 PHLDA1 AU nonframeshift deletion NM_007350 exon1 c.582_584del p.194_195del 0.00938498 0.9885 0.9907 ID=COSM1476940;OCCURENCE=5(breast) Uncertain 12_76425476_G->A 12 76425476 76425476 G A snp 1700.77 0/1 99 148 70 78 0.53 exonic rs3747549 PHLDA1 AU nonsynonymous SNV NM_007350 exon1 c.C46T p.P16S 0.0503195 0.1012 0.034349 0.1514 0.1846 0 D 0.965 N -1.087 T 0.009 T 0.007 T Pathogenic 12_76442907_T->C 12 76442907 76442907 T C snp 228.77 0/1 99 12 5 7 0.58 intronic rs11180815 NAP1L1 AU NM_004537 exon2 c.771-72T>C 0.250799 0.5238 0.143953 Uncertain 12_76444510_G->A 12 76444510 76444510 G A snp 1922.77 1/1 99 77 0 77 1.0 intronic rs4831914 NAP1L1 AU NM_004537 exon4 c.2225+77G>A 0.585863 0.9554 Uncertain 12_76447793_T->- 12 76447793 76447793 T - indel 415.73 1/1 42 19 0 19 1.0 intronic rs35076461 NAP1L1 AU NM_004537 exon7 c.5481+104delT 0.875998 0.994 Uncertain 12_76448584_T->A 12 76448584 76448584 T A snp 163.9 1/1 15 5 0 5 1.0 intronic rs7976730 NAP1L1 AU NM_004537 exon8 c.6590-214T>A 0.599241 0.9554 Uncertain 12_76449900_T->C 12 76449900 76449900 T C snp 1131.77 1/1 81 39 0 39 1.0 exonic rs1059143 NAP1L1 AU synonymous SNV NM_004537 exon7 c.A471G p.K157K 0.920128 0.999 0.857099 0.8650 0.9995 Uncertain 12_76451696_T->C 12 76451696 76451696 T C snp 2106.77 1/1 99 83 0 83 1.0 intronic rs2163913 NAP1L1 AU NM_004537 exon9 c.7733+1755T>C 0.751398 0.9931 Uncertain 12_76453966_G->A 12 76453966 76453966 G A snp 1214.77 1/1 87 38 0 38 1.0 exonic rs4663 NAP1L1 AU synonymous SNV NM_004537 exon5 c.C300T p.H100H 0.586462 0.9554 0.505614 0.6214 0.9583 Uncertain 12_76461137_T->C 12 76461137 76461137 T C snp 124.03 1/1 12 5 0 5 1.0 intronic rs10785227 NAP1L1 AU NM_004537 exon12 c.18942-13T>C 0.601038 0.9554 0.519068 0.6254 0.9582 Uncertain 12_76461145_C->T 12 76461145 76461145 C T snp 170.9 1/1 15 8 0 8 1.0 splicing rs7972289 NAP1L1 AU NM_004537 exon12 c.18942-5C>T 0.84984 0.996 0.786099 0.8367 0.9972 Pathogenic 12_76461257_-->A 12 76461257 76461257 - A indel 382.73 0/1 99 56 32 24 0.43 splicing rs3214625 NAP1L1 AU NM_004537 exon12 c.19045+4insA 0.308107 0.4048 0.340524 0.3761 0.3911 Pathogenic 12_76462612_T->C 12 76462612 76462612 T C snp 529.77 1/1 39 21 0 21 1.0 intronic rs10880034 NAP1L1 AU NM_004537 exon13 c.20480-76T>C 0.60004 0.9554 Uncertain 12_76763731_T->C 12 76763731 76763731 T C snp 180.9 1/1 15 6 0 6 1.0 intronic rs4319553 OSBPL8 AU NM_020841 exon5 c.13934+129T>C 0.97484 1 Uncertain 12_76780471_A->T 12 76780471 76780471 A T snp 2420.77 1/1 99 99 0 99 1.0 intronic rs73137003 OSBPL8 AU NM_020841 exon12 c.30772+31A>T 0.114617 0.0933 0.181305 0.1931 0.0795 Uncertain 12_76804168_G->A 12 76804168 76804168 G A snp 351.78 1/1 27 10 0 10 1.0 intronic rs35236201 OSBPL8 AU NM_020841 exon20 c.54675-175G>A 0.408746 0.1071 Uncertain 12_76804493_T->C 12 76804493 76804493 T C snp 256.8 1/1 21 9 0 9 1.0 intronic rs34492199 OSBPL8 AU NM_020841 exon20 c.54746+79T>C 0.148562 0.0923 Uncertain 12_76805983_T->C 12 76805983 76805983 T C snp 2695.77 1/1 99 88 0 88 1.0 intronic rs12814818 OSBPL8 AU NM_020841 exon20 c.54746+1569T>C 0.148363 0.0923 Uncertain 12_76852809_C->T 12 76852809 76852809 C T snp 1279.77 1/1 90 47 0 47 1.0 intronic rs34838249 OSBPL8 AU NM_020841 exon22 c.103970-829C>T 0.409744 0.1071 Uncertain 12_76853874_A->C 12 76853874 76853874 A C snp 349.78 1/1 27 9 0 9 1.0 intronic rs10778674 OSBPL8 AU NM_020841 exon22 c.104007+199A>C 0.766174 0.6667 Uncertain 12_76854950_A->G 12 76854950 76854950 A G snp 495.77 1/1 39 13 0 13 1.0 intronic rs7301198 OSBPL8 AU NM_020841 exon22 c.104007+1275A>G 0.409944 0.1071 Uncertain 12_77158419_T->C 12 77158419 77158419 T C snp 766.77 1/1 57 24 0 24 1.0 intronic rs1017784 ZDHHC17 AU NM_015336 exon1 c.93+310T>C 0.805911 0.7847 Uncertain 12_77199251_ACTTG->- 12 77199251 77199255 ACTTG - indel 1913.73 1/1 75 37 0 37 1.0 intronic rs140164197 ZDHHC17 AU NM_015336 exon3 c.41203+32_41203+36delACTTG 0.420927 0.6538 0.287975 0.3855 0.6108 Uncertain 12_77202798_A->G 12 77202798 77202798 A G snp 322.78 1/1 24 13 0 13 1.0 intronic rs10778920 ZDHHC17 AU NM_015336 exon4 c.44806-24A>G 0.591454 0.6825 0.603912 0.6639 0.7425 Uncertain 12_77214681_G->A 12 77214681 77214681 G A snp 99.28 1/1 9 3 0 3 1.0 intronic rs1477748 ZDHHC17 AU NM_015336 exon8 c.58169-1504G>A 0.59405 0.6746 Uncertain 12_77214788_G->A 12 77214788 77214788 G A snp 2159.77 1/1 99 75 0 75 1.0 intronic rs2306142 ZDHHC17 AU NM_015336 exon8 c.58169-1397G>A 0.934505 0.9385 0.9333 0.925 Uncertain 12_77236968_G->A 12 77236968 77236968 G A snp 664.77 1/1 51 20 0 20 1.0 intronic rs1979743 ZDHHC17 AU NM_015336 exon12 c.78745+207G>A 0.598442 0.6835 Uncertain 12_77239421_AAAT->- 12 77239421 77239424 AAAT - indel 1518.73 1/1 69 23 0 23 1.0 intronic rs143729859 ZDHHC17 AU NM_015336 exon13 c.81472-67_81472-64delAAAT 0.598442 0.6825 Uncertain 12_77254208_A->- 12 77254208 77254208 A - indel 6576.73 1/1 99 213 2 211 0.99 intronic rs35557984 CSRP2 AU NM_001321 exon3 c.1462+15delA 0.557907 0.6815 0.5955 0.6672 Uncertain 12_77256477_T->C 12 77256477 77256477 T C snp 633.77 1/1 48 17 0 17 1.0 intronic rs2047226 CSRP2 AU NM_001321 exon4 c.4224-478T>C 0.598043 0.6845 Uncertain 12_77256681_T->G 12 77256681 77256681 T G snp 5286.77 1/1 99 203 0 203 1.0 intronic rs2047227 CSRP2 AU NM_001321 exon4 c.4224-274T>G 0.598642 0.6835 0.5752 0.7073 0.27 T 0.000 P -0.957 T Uncertain 12_77421973_TCTC->- 12 77421973 77421976 TCTC - indel 923.73 0/1 99 36 14 22 0.61 intronic rs59593386 E2F7 AU NM_203394 exon3 c.4124+55_4124+58delTCTC Uncertain 12_77424135_C->T 12 77424135 77424135 C T snp 1805.77 0/1 99 208 129 79 0.38 intronic rs10862960 E2F7 AU NM_203394 exon4 c.6318+23C>T 0.313898 0.2897 0.355800 0.4210 0.2975 Uncertain 12_77426776_G->A 12 77426776 77426776 G A snp 408.77 0/1 99 59 38 21 0.36 intronic rs753266 E2F7 AU NM_203394 exon5 c.9035-53G>A 0.422324 0.4335 0.440648 Uncertain 12_77427951_C->T 12 77427951 77427951 C T snp 61.77 0/1 90 6 3 3 0.5 intronic rs1565728 E2F7 AU NM_203394 exon6 c.10028+129C>T 0.333267 0.2907 Uncertain 12_77449514_T->C 12 77449514 77449514 T C snp 116.77 0/1 60 6 2 4 0.67 intronic rs10506725 E2F7 AU NM_203394 exon11 c.31840-120T>C 0.133786 0.2381 Uncertain 12_77449790_A->G 12 77449790 77449790 A G snp 3760.77 1/1 99 142 0 142 1.0 exonic rs310791 E2F7 AU nonsynonymous SNV NM_203394 exon3 c.T214C p.F72L 0.855631 0.998 0.838382 0.8926 0.9995 1 T 0.000 P -0.931 T 0.0 T 0.0 T Pathogenic 12_78225110_T->C 12 78225110 78225110 T C snp 678.77 0/1 99 51 25 26 0.51 UTR5 rs12227066 NAV3 AU 0.316494 0.5337 Uncertain 12_78225374_A->G 12 78225374 78225374 A G snp 4970.77 1/1 99 174 0 174 1.0 exonic rs10735309 NAV3 AU nonsynonymous SNV NM_001024383 exon1 c.A133G p.T45A 0.975439 1 0.973312 0.9928 1 1 T 1.000 P -0.940 T 0.0 T 0.0 T Pathogenic 12_78334053_G->C 12 78334053 78334053 G C snp 1489.77 0/1 99 162 95 67 0.41 intronic rs1731740 NAV3 AU NM_014903 exon2 c.108857-45G>C 0.892772 0.9792 0.864151 0.8592 0.9813 Uncertain 12_78334666_G->T 12 78334666 78334666 G T snp 36.77 0/1 65 6 3 3 0.5 intronic NAV3 AU NM_014903 exon3 c.109619-194G>T Uncertain 12_78391958_A->C 12 78391958 78391958 A C snp 34.77 0/1 63 7 5 2 0.29 intronic rs11107763 NAV3 AU NM_014903 exon7 c.166875-158A>C 0.0940495 0.0188 Uncertain 12_78510415_T->A 12 78510415 78510415 T A snp 441.77 0/1 99 42 22 20 0.48 intronic rs11835006 NAV3 AU NM_014903 exon13 c.285310-136T>A 0.142173 0.2738 Uncertain 12_78511755_T->C 12 78511755 78511755 T C snp 1013.77 0/1 99 69 29 40 0.58 intronic rs300442 NAV3 AU NM_014903 exon14 c.286565-51T>C 0.736422 0.6895 0.832578 Uncertain 12_78530979_G->A 12 78530979 78530979 G A snp 1620.77 0/1 99 149 76 73 0.49 exonic rs1852464 NAV3 AU synonymous SNV NM_001024383 exon19 c.G4464A p.Q1488Q 0.61222 0.5565 0.661861 0.6128 0.5282 1.000 P -1.126 T Likely benign 12_78531156_A->G 12 78531156 78531156 A G snp 625.77 0/1 99 47 22 25 0.53 intronic rs2290103 NAV3 AU NM_014903 exon19 c.305904+11A>G 0.324481 0.4732 0.249625 0.2963 0.4616 Uncertain 12_78531207_T->C 12 78531207 78531207 T C snp 201.77 0/1 60 9 2 7 0.78 intronic rs300462 NAV3 AU NM_014903 exon19 c.305904+62T>C 0.653355 0.5843 Uncertain 12_78534233_A->G 12 78534233 78534233 A G snp 389.77 0/1 99 45 28 17 0.38 intronic rs1726427 NAV3 AU NM_014903 exon20 c.308873+119A>G 0.365016 0.496 Uncertain 12_78537016_A->T 12 78537016 78537016 A T snp 450.77 0/1 99 38 18 20 0.53 intronic rs451753 NAV3 AU NM_014903 exon20 c.308873+2902A>T 0.3752 0.496 Uncertain 12_78537138_-->GGT 12 78537138 78537138 - GGT indel 1440.73 0/1 99 69 35 34 0.49 intronic rs10661027 NAV3 AU NM_014903 exon21 c.314907-3010insGGT 0.2596 0.5076 Uncertain 12_78538728_-->AAA 12 78538728 78538728 - AAA indel 279.73 0/1 99 9 3 6 0.67 intronic NAV3 AU NM_014903 exon21 c.314907-1420insAAA Uncertain 12_78540175_A->- 12 78540175 78540175 A - indel 111.73 0/1 99 12 6 6 0.5 splicing rs34144410 NAV3 AU NM_014903 exon21 c.314931+3delA 0.644169 0.5813 0.6930 0.5862 Pathogenic 12_78542594_T->G 12 78542594 78542594 T G snp 564.77 0/1 99 61 33 28 0.46 intronic rs444864 NAV3 AU NM_014903 exon22 c.317380-27T>G 0.365815 0.496 0.305848 0.3832 0.5278 Uncertain 12_78542602_-->T 12 78542602 78542602 - T indel 659.73 0/1 99 61 31 30 0.49 intronic rs3214877 NAV3 AU NM_014903 exon22 c.317380-19insT 0.365615 0.496 0.3769 0.5173 Uncertain 12_78542699_T->C 12 78542699 78542699 T C snp 402.77 0/1 99 31 16 15 0.48 exonic rs366527 NAV3 AU synonymous SNV NM_001024383 exon22 c.T4785C p.N1595N 0.365815 0.496 0.308873 0.3615 0.4958 1.000 P -0.900 T Likely benign 12_78562687_A->G 12 78562687 78562687 A G snp 1882.77 1/1 99 64 0 64 1.0 intronic rs1726431 NAV3 AU NM_014903 exon24 c.337405+41A>G 0.960863 1 0.958007 0.9814 1 Uncertain 12_78569059_G->A 12 78569059 78569059 G A snp 1718.77 1/1 99 58 0 58 1.0 intronic rs2442134 NAV3 AU NM_014903 exon25 c.343844-26G>A 0.960863 1 0.957602 0.9811 1 Uncertain 12_78570914_G->C 12 78570914 78570914 G C snp 1171.77 0/1 99 100 53 47 0.47 intronic rs1020462 NAV3 AU NM_014903 exon27 c.345679-6G>C 0.496406 0.5526 0.390421 0.4618 0.5886 Uncertain 12_78571186_T->C 12 78571186 78571186 T C snp 561.78 0/1 24 22 2 20 0.91 intronic rs1020461 NAV3 AU NM_014903 exon27 c.345852+93T>C 0.365615 0.3472 Uncertain 12_78573604_A->T 12 78573604 78573604 A T snp 302.77 0/1 99 18 8 10 0.56 intronic rs2305974 NAV3 AU NM_014903 exon28 c.348221+142A>T 0.148363 0.3185 Uncertain 12_78582362_T->C 12 78582362 78582362 T C snp 1674.77 1/1 99 52 0 52 1.0 intronic rs300513 NAV3 AU NM_014903 exon32 c.357147-26T>C 0.942093 1 0.939106 0.9707 1 Uncertain 12_78582566_A->G 12 78582566 78582566 A G snp 2493.77 1/1 99 78 0 78 1.0 intronic rs400289 NAV3 AU NM_014903 exon32 c.357316+9A>G 0.948882 1 0.944295 0.9728 1 Uncertain 12_78590946_A->C 12 78590946 78590946 A C snp 742.77 1/1 57 21 0 21 1.0 intronic rs300498 NAV3 AU NM_014903 exon34 c.365785-80A>C 0.951478 1 Uncertain 12_78590983_A->G 12 78590983 78590983 A G snp 747.77 0/1 99 56 27 29 0.52 intronic rs300497 NAV3 AU NM_014903 exon34 c.365785-43A>G 0.251398 0.1984 0.347135 0.3653 0.1833 Uncertain 12_78591249_C->A 12 78591249 78591249 C A snp 346.77 0/1 99 16 5 11 0.69 intronic rs981213 NAV3 AU NM_014903 exon34 c.365940+68C>A 0.635383 0.7827 Uncertain 12_78592993_TGGGAACATTATTAC->- 12 78592993 78593007 TGGGAACATTATTAC - indel 1869.73 0/1 99 40 22 18 0.45 intronic rs11272983 NAV3 AU NM_014903 exon36 c.367873-121_367873-107delTGGGAACATTATTAC 0.638978 0.7996 0.6138 0.8072 Uncertain 12_78593071_AATTT->- 12 78593071 78593075 AATTT - indel 734.73 0/1 99 26 14 12 0.46 intronic rs140965470 NAV3 AU NM_014903 exon36 c.367873-43_367873-39delAATTT 0.321086 0.6796 0.172811 0.3412 0.7238 Uncertain 12_78594405_T->A 12 78594405 78594405 T A snp 46.77 0/1 75 7 4 3 0.43 intronic rs3214044 NAV3 AU NM_014903 exon37 c.369130+34T>A 0.582069 0.75 0.4323 0.5946 Uncertain 12_78598891_G->A 12 78598891 78598891 G A snp 1336.77 0/1 99 112 60 52 0.46 exonic rs9971904 NAV3 AU synonymous SNV NM_014903 exon38 c.G6945A p.P2315P 0.635783 0.8006 0.457143 0.5258 0.8266 1.0 P -1.021 T Likely benign 12_78604096_G->C 12 78604096 78604096 G C snp 197.77 0/1 99 45 36 9 0.2 intronic rs551464488 NAV3 AU NM_014903 exon39 c.378936-81G>C 0.000199681 0.001 Uncertain 12_79611374_C->T 12 79611374 79611374 C T snp 1986.77 0/1 99 194 108 86 0.44 exonic rs2037743 SYT1 AU synonymous SNV NM_005639 exon4 c.C75T p.N25N 0.625799 0.4603 0.716746 0.6681 0.4182 Uncertain 12_79611536_T->C 12 79611536 79611536 T C snp 292.77 0/1 99 22 12 10 0.45 intronic rs2400390 SYT1 AU NM_001135806 exon3 c.166+71T>C 0.628195 0.4603 Uncertain 12_79685913_C->A 12 79685913 79685913 C A snp 1482.77 0/1 99 89 35 54 0.61 splicing rs2272500 SYT1 AU NM_001135806 exon5 c.74611+3C>A 0.41234 0.5615 0.351915 0.3742 0.5933 Pathogenic 12_79747487_T->C 12 79747487 79747487 T C snp 1438.77 1/1 99 40 0 40 1.0 intronic rs1732664 SYT1 AU NM_001135806 exon8 c.136100+88T>C 0.797524 0.8442 Uncertain 12_80014907_A->T 12 80014907 80014907 A T snp 697.77 0/1 99 63 34 29 0.46 exonic rs2307223 PAWR AU synonymous SNV NM_002583 exon3 c.T597A p.I199I 0.516773 0.5139 0.768107 0.6951 0.4750 1 D -0.983 T Likely benign 12_80175764_G->A 12 80175764 80175764 G A snp 80.77 0/1 30 4 1 3 0.75 intronic rs2111687 PPP1R12A AU NM_001143885 exon3 c.5934+122G>A 0.708067 0.6796 Uncertain 12_80190650_C->G 12 80190650 80190650 C G snp 2687.77 0/1 99 250 136 114 0.46 exonic rs2694657 PPP1R12A AU synonymous SNV NM_001244992 exon16 c.G2205C p.L735L 0.289537 0.3204 0.198134 0.1548 0.3374 Uncertain 12_80203831_G->T 12 80203831 80203831 G T snp 516.77 0/1 99 34 15 19 0.56 intronic rs2656041 PPP1R12A AU NM_001143885 exon16 c.34082+41G>T 0.289137 0.3194 0.189029 0.1892 0.3598 Uncertain 12_80216060_C->A 12 80216060 80216060 C A snp 171.77 0/1 99 37 26 11 0.3 intronic rs3849223 PPP1R12A AU NM_001143885 exon20 c.46262+90C>A 0.85024 0.6806 Uncertain 12_80266523_C->T 12 80266523 80266523 C T snp 739.77 0/1 99 68 36 32 0.47 intronic rs2656037 PPP1R12A AU NM_001143885 exon24 c.96879-64C>T 0.288339 0.3194 Uncertain 12_80602001_T->C 12 80602001 80602001 T C snp 723.77 0/1 99 66 34 32 0.48 intergenic rs1244908 PPP1R12A AU 0.547724 0.5873 0.483542 0.4296 0.6350 Uncertain 12_80626970_T->G 12 80626970 80626970 T G snp 327.78 1/1 27 9 0 9 1.0 intronic rs1451105 OTOGL AR NM_173591 exon8 c.23639+93T>G 0.998003 1 Uncertain 12_80645734_-->T 12 80645734 80645734 - T indel 220.75 1/1 24 12 0 12 1.0 intronic rs11438265 OTOGL AR NM_173591 exon12 c.42617-121insT 0.947284 1 Uncertain 12_80645799_A->T 12 80645799 80645799 A T snp 931.77 1/1 69 32 0 32 1.0 intronic rs2100258 OTOGL AR NM_173591 exon12 c.42617-56A>T 0.997404 1 Uncertain 12_80647155_A->G 12 80647155 80647155 A G snp 1104.77 1/1 81 32 0 32 1.0 intronic rs10862083 OTOGL AR NM_173591 exon13 c.44007-90A>G 0.77496 1 Uncertain 12_80648399_C->T 12 80648399 80648399 C T snp 488.77 1/1 36 17 0 17 1.0 intronic rs7295623 OTOGL AR NM_173591 exon14 c.45112+49C>T 0.995407 1 0.990627 0.9951 1 Uncertain 12_80650276_-->CAAA 12 80650276 80650276 - CAAA indel 968.73 1/1 51 32 0 32 1.0 intronic rs147846753 OTOGL AR NM_173591 exon16 c.47002+36insCAAA 0.502596 0.5317 0.4080 0.5098 Uncertain 12_80655692_G->A 12 80655692 80655692 G A snp 2336.77 1/1 99 73 0 73 1.0 intronic rs10778721 OTOGL AR NM_173591 exon18 c.52510-56G>A 0.997404 1 Uncertain 12_80660499_T->C 12 80660499 80660499 T C snp 111.77 0/1 99 10 5 5 0.5 intronic rs7313132 OTOGL AR NM_173591 exon20 c.57158+103T>C 0.779553 0.8581 Uncertain 12_80661189_T->A 12 80661189 80661189 T A snp 46.77 0/1 69 6 3 3 0.5 intronic rs11114377 OTOGL AR NM_173591 exon21 c.57869+82T>A 0.577676 0.8036 Uncertain 12_80663826_A->- 12 80663826 80663826 A - indel 455.73 1/1 56 21 0 21 1.0 intronic rs11324174 OTOGL AR NM_173591 exon22 c.60643-55delA 0.54373 0.5903 Uncertain 12_80663838_A->C 12 80663838 80663838 A C snp 195.77 0/1 99 30 20 10 0.33 intronic rs201335759 OTOGL AR NM_173591 exon22 c.60643-43A>C 0.0752796 0.0913 0.0588 0.0817 Uncertain 12_80665397_A->G 12 80665397 80665397 A G snp 843.77 0/1 99 92 58 34 0.37 intronic rs4483657 OTOGL AR NM_173591 exon23 c.62189-30A>G 0.740615 0.8909 0.718376 0.7715 0.8948 Uncertain 12_80672064_A->G 12 80672064 80672064 A G snp 2049.77 1/1 99 77 0 77 1.0 intronic rs1376384 OTOGL AR NM_173591 exon24 c.68817+9A>G 0.683307 0.9286 0.6985 0.9401 Uncertain 12_80707153_C->T 12 80707153 80707153 C T snp 261.8 1/1 21 7 0 7 1.0 intronic rs1037335 OTOGL AR NM_173591 exon30 c.104017-102C>T 0.564097 0.9018 Uncertain 12_80712307_A->C 12 80712307 80712307 A C snp 962.77 1/1 69 36 0 36 1.0 intronic rs7963215 OTOGL AR NM_173591 exon32 c.109087-18A>C 0.938099 0.9573 0.967483 0.9605 0.96 Uncertain 12_80712420_G->A 12 80712420 80712420 G A snp 1533.77 1/1 99 61 1 60 0.98 exonic rs10778725 OTOGL AR synonymous SNV NM_173591 exon32 c.G3702A p.P1234P 0.948482 0.9573 0.972872 0.9618 0.9489 Uncertain 12_80722385_-->T 12 80722385 80722385 - T indel 165.73 0/1 99 36 20 16 0.44 intronic rs35859327 OTOGL AR NM_173591 exon35 c.119206-59insT 0.459665 0.6339 Uncertain 12_80722396_G->T 12 80722396 80722396 G T snp 59.77 0/1 88 51 40 11 0.22 intronic rs368392691 OTOGL AR NM_173591 exon35 c.119206-48G>T 0.0001 0.0002 Uncertain 12_80726708_A->C 12 80726708 80726708 A C snp 773.77 0/1 99 47 23 24 0.51 intronic rs1451101 OTOGL AR NM_173591 exon37 c.123546-76A>C 0.150559 0.1944 Uncertain 12_80730466_G->A 12 80730466 80730466 G A snp 229.77 0/1 99 16 7 9 0.56 intronic rs73137398 OTOGL AR NM_173591 exon40 c.127338-110G>A 0.116014 0.1935 Uncertain 12_80730664_G->A 12 80730664 80730664 G A snp 209.77 0/1 99 23 15 8 0.35 intronic rs10862093 OTOGL AR NM_173591 exon41 c.127453-27G>A 0.487021 0.6935 0.521061 0.6168 0.7429 Uncertain 12_80735771_T->C 12 80735771 80735771 T C snp 632.77 0/1 99 56 25 31 0.55 exonic rs10778727 OTOGL AR synonymous SNV NM_173591 exon43 c.T5067C p.N1689N 0.494808 0.6935 0.529521 0.6151 0.7178 1.000 P -0.965 T Likely benign 12_80746234_-->AAT 12 80746234 80746234 - AAT indel 3312.73 1/1 99 67 0 67 1.0 intronic rs147703967 OTOGL AR NM_173591 exon44 c.142978+18insAAT 0.993750 0.9988 1 Uncertain 12_80747242_A->G 12 80747242 80747242 A G snp 1635.77 0/1 99 121 50 71 0.59 exonic rs7297767 OTOGL AR nonsynonymous SNV NM_173591 exon45 c.A5518G p.I1840V 0.834065 0.8056 0.845384 0.8531 0.8267 0.57 T 0.001 P -0.982 T Pathogenic 12_80749392_A->T 12 80749392 80749392 A T snp 252.77 0/1 99 17 9 8 0.47 intronic rs6539501 OTOGL AR NM_173591 exon46 c.146277-123A>T 0.832069 0.8056 Uncertain 12_80750741_-->A 12 80750741 80750741 - A indel 1061.73 0/1 99 79 25 54 0.68 intronic rs398040021 OTOGL AR NM_173591 exon48 c.147456+47insA 0.68111 0.7629 0.715041 0.7527 0.7515 Uncertain 12_80752660_A->G 12 80752660 80752660 A G snp 622.77 1/1 45 22 0 22 1.0 exonic rs2034528 OTOGL AR nonsynonymous SNV NM_173591 exon51 c.A6220G p.I2074V 0.964457 1 0.935839 0.9400 1 1 T 0.0 P -0.957 T 0.0 T 0.0 T Pathogenic 12_80760032_G->T 12 80760032 80760032 G T snp 1255.77 0/1 99 102 50 52 0.51 intronic rs4842349 OTOGL AR NM_173591 exon52 c.157115-321G>T 0.277356 0.2371 0.1349 0.2090 Uncertain 12_80760291_T->A 12 80760291 80760291 T A snp 30.77 0/1 33 3 1 2 0.67 intronic rs4426186 OTOGL AR NM_173591 exon52 c.157115-62T>A Uncertain 12_80760471_T->- 12 80760471 80760471 T - indel 441.73 1/1 39 16 0 16 1.0 intronic rs34113015 OTOGL AR NM_173591 exon52 c.157179+54delT 0.961462 1 0.931232 Uncertain 12_80761430_G->A 12 80761430 80761430 G A snp 694.77 0/1 99 70 40 30 0.43 exonic rs1551118 OTOGL AR nonsynonymous SNV NM_173591 exon53 c.G6394A p.A2132T 0.678115 0.7619 0.717994 0.7868 0.7672 1 T 0.000 P -1.007 T 0.0 T 0.001 T Pathogenic 12_80761465_G->A 12 80761465 80761465 G A snp 2182.77 1/1 99 89 0 89 1.0 exonic rs2717482 OTOGL AR synonymous SNV NM_173591 exon53 c.G6429A p.T2143T 0.96865 1 0.941244 0.9454 0.9999 1.000 P -1.024 T Likely benign 12_80762163_-->CC 12 80762163 80762163 - CC indel 2364.73 0/1 99 203 101 102 0.5 intronic rs369467348 OTOGL AR NM_173591 exon54 c.158851+74insCC Uncertain 12_80762246_G->A 12 80762246 80762246 G A snp 938.77 0/1 99 58 27 31 0.53 intronic rs10778730 OTOGL AR NM_173591 exon54 c.158851+157G>A 0.679712 0.7629 Uncertain 12_80765684_GAA->- 12 80765684 80765686 GAA - indel 245.73 0/1 41 7 1 6 0.86 intronic rs138581552 OTOGL AR NM_173591 exon56 c.162560-114_162560-112delGAA Uncertain 12_80765687_G->A 12 80765687 80765687 G A snp 200.8 0/1 21 8 1 7 0.88 intronic rs200447966 OTOGL AR NM_173591 exon56 c.162560-111G>A Uncertain 12_80765741_C->T 12 80765741 80765741 C T snp 857.77 1/1 63 28 0 28 1.0 intronic rs1037336 OTOGL AR NM_173591 exon56 c.162560-57C>T 0.961661 1 0.927161 Uncertain 12_80765800_A->G 12 80765800 80765800 A G snp 601.77 0/1 99 59 31 28 0.47 exonic rs1551122 OTOGL AR nonsynonymous SNV NM_173591 exon56 c.A6710G p.N2237S 0.484026 0.7024 0.496540 0.5893 0.7085 0.34 T 0.440 P -0.987 T 0.995 D 0.91 D Pathogenic 12_80765933_C->G 12 80765933 80765933 C G snp 209.77 0/1 99 23 14 9 0.39 intronic rs10862100 OTOGL AR NM_173591 exon56 c.162606+89C>G 0.492612 0.7024 Uncertain 12_80765945_G->A 12 80765945 80765945 G A snp 146.77 0/1 99 12 6 6 0.5 intronic rs10778734 OTOGL AR NM_173591 exon56 c.162606+101G>A 0.679313 0.7629 Uncertain 12_80771813_G->A 12 80771813 80771813 G A snp 2002.77 0/1 99 184 97 87 0.47 exonic rs2717477 OTOGL AR synonymous SNV NM_173591 exon58 c.G7020A p.T2340T 0.683107 0.7629 0.722735 0.7874 0.7737 1.000 P -0.964 T Likely benign 12_80816492_C->T 12 80816492 80816492 C T snp 1563.77 0/1 99 152 83 69 0.45 intergenic rs4482093 OTOGL AR 0.694489 0.7649 0.8256 0.7985 Uncertain 12_80818876_A->G 12 80818876 80818876 A G snp 1202.77 0/1 99 97 49 48 0.49 intergenic rs10746164 OTOGL AR 0.67492 0.748 0.8242 0.7727 0.09 T 0.999 P -1.051 T Uncertain 12_80818964_G->T 12 80818964 80818964 G T snp 306.77 0/1 99 21 10 11 0.52 intergenic rs10746165 OTOGL AR 0.514377 0.6895 Uncertain 12_80821391_-->T 12 80821391 80821391 - T indel 748.73 1/1 32 42 2 40 0.95 intergenic rs386377124 OTOGL AR Uncertain 12_80821446_T->C 12 80821446 80821446 T C snp 249.78 1/1 24 8 0 8 1.0 intergenic rs7294514 OTOGL AR 0.773562 0.9573 Uncertain 12_80828629_T->C 12 80828629 80828629 T C snp 56.74 1/1 6 2 0 2 1.0 intergenic rs4128302 OTOGL AR 0.615815 0.8938 Uncertain 12_80828679_C->G 12 80828679 80828679 C G snp 257.8 1/1 21 9 0 9 1.0 intergenic rs4128303 OTOGL AR 0.593051 0.875 0.7255 0.8793 Uncertain 12_80838012_T->C 12 80838012 80838012 T C snp 225.77 0/1 99 17 7 10 0.59 upstream rs10746166 PTPRQ AR 0.928315 0.7798 Uncertain 12_80849328_G->A 12 80849328 80849328 G A snp 571.77 0/1 99 61 32 29 0.48 intronic rs4482094 PTPRQ AR NM_001145026 exon3 c.1374+9829G>A 0.827276 0.5675 Uncertain 12_80855597_T->C 12 80855597 80855597 T C snp 922.77 0/1 99 95 48 47 0.49 intronic rs4499068 PTPRQ AR NM_001145026 exon4 c.24361-6889T>C 0.928514 0.7798 0.9760 0.8182 Uncertain 12_80855803_G->A 12 80855803 80855803 G A snp 1041.77 0/1 99 117 70 47 0.4 intronic rs7137294 PTPRQ AR NM_001145026 exon4 c.24361-6683G>A 0.421725 0.5149 0.6118 0.5 0.22 T 0.0 P -0.911 T Uncertain 12_80928000_A->- 12 80928000 80928000 A - indel 420.73 0/1 99 37 14 23 0.62 intronic rs562159043 PTPRQ AR NM_001145026 exon15 c.89829+46delA 0.092935 0.0751 0.0742 Uncertain 12_81015823_C->- 12 81015823 81015823 C - indel 185.73 0/1 99 22 14 8 0.36 intronic rs149289370 PTPRQ AR NM_001145026 exon30 c.177714-16delC 0.0836661 0.125 0.0517 0.1081 Uncertain 12_81028838_C->T 12 81028838 81028838 C T snp 1094.77 0/1 99 124 73 51 0.41 exonic rs61729309 PTPRQ AR synonymous SNV NM_001145026 exon32 c.C5385T p.D1795D 0.0830671 0.126 0.050153 0.0539 0.1111 1.0 P -0.986 T Likely benign 12_81062958_C->T 12 81062958 81062958 C T snp 3337.77 1/1 99 103 0 103 1.0 intronic rs11114558 PTPRQ AR NM_001145026 exon37 c.224795+38C>T 0.230232 0.1915 0.192156 0.1275 0.1893 Uncertain 12_81063264_C->T 12 81063264 81063264 C T snp 2121.77 1/1 99 73 2 71 0.97 intronic rs1163041 PTPRQ AR NM_001145026 exon38 c.225118+21C>T 0.396765 0.2163 0.422032 0.3460 0.2196 Uncertain 12_81063347_G->A 12 81063347 81063347 G A snp 343.78 1/1 27 9 0 9 1.0 intronic rs1920446 PTPRQ AR NM_001145026 exon38 c.225118+104G>A 0.361222 0.2173 Uncertain 12_81066851_A->G 12 81066851 81066851 A G snp 136.03 1/1 12 4 0 4 1.0 intronic rs950124 PTPRQ AR NM_001145026 exon40 c.228822-96A>G 0.367412 0.2163 Uncertain 12_81102812_A->G 12 81102812 81102812 A G snp 152.77 0/1 99 11 5 6 0.55 UTR3 rs141373187 MYF6 AD 0.0091853 0.0446 Uncertain 12_81110765_A->G 12 81110765 81110765 A G snp 1100.77 1/1 81 33 0 33 1.0 UTR5 rs1163261 MYF5 AU 0.461462 0.2282 Uncertain 12_81112497_T->G 12 81112497 81112497 T G snp 139.03 1/1 12 4 0 4 1.0 intronic rs10862184 MYF5 AU NM_005593 exon3 c.1797-142T>G 0.196086 0.1944 Uncertain 12_81226432_G->A 12 81226432 81226432 G A snp 1109.77 1/1 81 32 0 32 1.0 intronic rs12297928 LIN7A AU NM_004664 exon3 c.34265-13076G>A 0.341853 0.2024 0.396704 0.3820 0.2489 Uncertain 12_81226436_C->T 12 81226436 81226436 C T snp 983.77 1/1 72 27 0 27 1.0 intronic rs12311734 LIN7A AU NM_004664 exon3 c.34265-13072C>T 0.342252 0.2024 0.395415 0.3780 0.2453 Uncertain 12_81329536_A->C 12 81329536 81329536 A C snp 1232.77 0/1 99 125 66 59 0.47 ncRNA_exonic rs2682818 MIR618 AU 0.757588 0.747 0.808641 0.8258 0.7477 Uncertain 12_81552338_C->T 12 81552338 81552338 C T snp 1872.77 0/1 99 185 101 84 0.45 intronic rs11835646 ACSS3 AU NM_024560 exon7 c.73976+6463C>T 0.398363 0.2153 Uncertain 12_81624720_T->A 12 81624720 81624720 T A snp 34.77 0/1 63 7 5 2 0.29 intronic rs1950100 ACSS3 AU NM_024560 exon12 c.152936-115T>A 0.191294 0.3591 Uncertain 12_81624964_A->T 12 81624964 81624964 A T snp 417.77 0/1 99 27 12 15 0.56 intronic rs2293651 ACSS3 AU NM_024560 exon12 c.153018+47A>T 0.351637 0.1746 0.450772 0.4446 0.1998 Uncertain 12_81647471_T->A 12 81647471 81647471 T A snp 610.77 0/1 99 27 9 18 0.67 intronic rs2400895 ACSS3 AU NM_024560 exon15 c.175550+22T>A 0.404153 0.2133 0.508613 0.4839 0.2198 Uncertain 12_81655861_G->C 12 81655861 81655861 G C snp 1027.77 0/1 99 109 62 47 0.43 intronic rs2272501 PPFIA2 AU NM_003625 exon2 c.59+42G>C 0.340056 0.1766 0.445362 0.4763 0.2112 Uncertain 12_81660963_-->A 12 81660963 81660963 - A indel 139.73 0/1 73 14 4 10 0.71 intronic rs35647579 PPFIA2 AU NM_001220473 exon3 c.7385+168insA 0.605431 0.4454 Uncertain 12_81661915_T->C 12 81661915 81661915 T C snp 327.77 0/1 99 33 19 14 0.42 intronic rs12304688 PPFIA2 AU NM_001220473 exon4 c.8456+49T>C 0.0145 0.0092 Uncertain 12_81661945_A->T 12 81661945 81661945 A T snp 206.84 1/1 18 6 0 6 1.0 intronic rs6539566 PPFIA2 AU NM_001220473 exon4 c.8456+79A>T 0.989018 1 Uncertain 12_81688958_C->G 12 81688958 81688958 C G snp 96.28 1/1 9 3 0 3 1.0 ncRNA_intronic rs1882188 LOC102724663 AU 0.903554 0.9663 Uncertain 12_81695836_G->A 12 81695836 81695836 G A snp 178.9 1/1 15 5 0 5 1.0 ncRNA_intronic rs10862288 LOC102724663 AU 0.871206 0.9663 Uncertain 12_81696399_G->A 12 81696399 81696399 G A snp 3152.77 1/1 99 122 0 122 1.0 ncRNA_intronic rs1921053 LOC102724663 AU 0.86861 0.9663 Uncertain 12_81733210_T->G 12 81733210 81733210 T G snp 686.77 0/1 99 55 29 26 0.47 intronic PPFIA2 AU NM_001220473 exon12 c.79703+97T>G Uncertain 12_81760845_T->- 12 81760845 81760845 T - indel 1496.73 1/1 99 38 0 38 1.0 intronic rs76940768 PPFIA2 AU NM_001220473 exon19 c.107476-41delT 0.165935 0.0933 0.185096 0.1721 0.0801 Uncertain 12_81769581_C->T 12 81769581 81769581 C T snp 4206.77 1/1 99 157 0 157 1.0 exonic rs10862301 PPFIA2 AU synonymous SNV NM_001220478 exon6 c.G828A p.L276L 0.445687 0.5387 0.319697 0.3612 0.5424 1.000 P -0.930 T Likely benign 12_82617279_G->C 12 82617279 82617279 G C snp 570.77 1/1 42 19 0 19 1.0 intergenic rs7304928 LOC101928449 AU 0.390974 0.4782 Uncertain 12_82751063_ATC->- 12 82751063 82751065 ATC - indel 473.74 1/1 27 11 0 11 1.0 intronic rs3077481 CCDC59 AU NM_014167 exon3 c.4119+15_4119+17delATC 0.874601 0.998 0.825316 0.8882 0.9995 Uncertain 12_82751955_A->G 12 82751955 82751955 A G snp 1824.77 1/1 99 54 0 54 1.0 intronic rs6539662 CCDC59 AU NM_014167 exon4 c.5072-46A>G 0.874601 0.998 0.826542 0.8894 0.9997 Uncertain 12_82752633_G->A 12 82752633 82752633 G A snp 1399.77 1/1 99 50 0 50 1.0 intronic rs4882530 METTL25 AU NM_032230 exon1 c.259+30G>A 0.860224 0.998 0.832961 0.8927 0.9996 Uncertain 12_82783668_C->T 12 82783668 82783668 C T snp 2284.77 1/1 99 89 0 89 1.0 exonic rs10778908 METTL25 AU synonymous SNV NM_032230 exon3 c.C498T p.I166I 0.926118 1 0.910909 0.9559 1 1.000 P -1.010 T Likely benign 12_82792787_C->A 12 82792787 82792787 C A snp 2297.77 1/1 99 75 0 75 1.0 exonic rs4296098 METTL25 AU nonsynonymous SNV NM_032230 exon4 c.C745A p.Q249K 0.926318 1 0.910475 0.9559 0.9999 0.91 T 0.0 P -0.903 T 0.009 T 0.007 T Pathogenic 12_82828426_-->ATAAG 12 82828426 82828426 - ATAAG indel 7290.73 1/1 99 101 0 101 1.0 intronic rs10683876 METTL25 AU NM_032230 exon7 c.76129-47insATAAG 0.996406 1 0.9990 1 Uncertain 12_82832418_G->A 12 82832418 82832418 G A snp 848.77 1/1 63 30 0 30 1.0 intronic rs2717448 METTL25 AU NM_032230 exon8 c.80152-78G>A 0.996605 1 Uncertain 12_82850427_A->G 12 82850427 82850427 A G snp 176.9 1/1 15 6 0 6 1.0 intronic rs2731290 METTL25 AU NM_032230 exon9 c.98161-78A>G 0.923722 1 Uncertain 12_83324499_G->T 12 83324499 83324499 G T snp 558.77 1/1 42 16 0 16 1.0 intronic rs10746259 TMTC2 AU NM_152588 exon4 c.242959+175G>T 0.657149 0.7728 Uncertain 12_83358930_A->G 12 83358930 83358930 A G snp 1904.77 1/1 97 76 2 74 0.97 intronic rs2403023 TMTC2 AU NM_152588 exon5 c.277523+42A>G 0.651957 0.7966 0.579745 0.7064 0.8033 Uncertain 12_83424455_A->T 12 83424455 83424455 A T snp 364.77 0/1 99 40 25 15 0.38 intronic rs11115554 TMTC2 AU NM_152588 exon9 c.343211-121A>T 0.000798722 Uncertain 12_83444974_G->A 12 83444974 83444974 G A snp 40.77 0/1 33 3 1 2 0.67 intronic rs535838591 TMTC2 AU NM_152588 exon10 c.363432+177G>A 0.000199681 0.001 Uncertain 12_85432040_T->A 12 85432040 85432040 T A snp 2892.77 0/1 99 250 112 138 0.55 exonic rs7312075 LRRIQ1 AU nonsynonymous SNV NM_001079910 exon2 c.T86A p.I29N 0.11901 0.2202 0.066969 0.1189 0.2145 0.01 T 0.000 P -1.035 T 0.327 T 0.075 T Pathogenic 12_85438499_G->A 12 85438499 85438499 G A snp 578.77 0/1 99 56 32 24 0.43 exonic rs3765044 LRRIQ1 AU nonsynonymous SNV NM_001079910 exon4 c.G248A p.C83Y 0.206669 0.2222 0.205150 0.2606 0.2153 1 T 0.0 P -1.012 T 0.0 T 0.0 T Pathogenic 12_85439774_A->G 12 85439774 85439774 A G snp 807.77 0/1 99 59 29 30 0.51 intronic rs2305102 LRRIQ1 AU NM_001079910 exon5 c.7843-23A>G 0.206869 0.2222 0.208462 0.2694 0.2224 Uncertain 12_85441320_G->C 12 85441320 85441320 G C snp 34.77 0/1 63 7 5 2 0.29 intronic rs73180553 LRRIQ1 AU NM_001079910 exon6 c.9294+72G>C 0.11901 0.2202 0.1471 0.2378 Uncertain 12_85449465_T->A 12 85449465 85449465 T A snp 208.77 0/1 99 32 23 9 0.28 exonic rs7974418 LRRIQ1 AU synonymous SNV NM_001079910 exon8 c.T894A p.V298V 0.595248 0.4514 0.629624 0.5094 0.4399 Uncertain 12_85451017_G->C 12 85451017 85451017 G C snp 356.77 0/1 99 33 20 13 0.39 intronic rs6539881 LRRIQ1 AU NM_001079910 exon8 c.19008+55G>C 0.595048 0.4524 Uncertain 12_85466723_G->A 12 85466723 85466723 G A snp 1534.77 0/1 99 156 85 71 0.46 exonic rs17012533 LRRIQ1 AU nonsynonymous SNV NM_001079910 exon11 c.G2734A p.A912T 0.206869 0.2222 0.208904 0.2607 0.2155 0.53 T 0.0 P -1.012 T 0.0 T 0.0 T Pathogenic 12_85492094_C->T 12 85492094 85492094 C T snp 150.77 0/1 99 10 5 5 0.5 intronic rs34798402 LRRIQ1 AU NM_001079910 exon12 c.60178-38C>T 0.206869 0.2222 0.204904 0.2778 0.2246 Uncertain 12_85531790_A->G 12 85531790 85531790 A G snp 152.77 0/1 99 10 5 5 0.5 intronic rs168615 LRRIQ1 AU NM_001079910 exon19 c.99793+43A>G 0.597444 0.4514 0.626462 0.5179 0.4434 Uncertain 12_85554331_C->T 12 85554331 85554331 C T snp 330.77 0/1 99 32 17 15 0.47 intronic rs2404773 LRRIQ1 AU NM_001079910 exon24 c.122436-59C>T 0.20647 0.2232 Uncertain 12_85638646_A->- 12 85638646 85638646 A - indel 1052.73 0/1 99 81 34 47 0.58 exonic rs398102301 LRRIQ1 AU frameshift deletion NM_001079910 exon27 c.5096delA p.E1699fs 0.197883 0.1776 0.2853 0.1813 ID=COSM1364640;OCCURENCE=3(large_intestine) Pathogenic 12_88177722_G->A 12 88177722 88177722 G A snp 2750.77 1/1 99 78 1 77 0.99 ncRNA_exonic rs1796320 MKRN9P AU 0.798522 0.9504 0.7568 0.9434 Uncertain 12_88177791_C->T 12 88177791 88177791 C T snp 4979.77 1/1 99 179 0 179 1.0 ncRNA_exonic rs1675574 MKRN9P AU 0.798522 0.9504 0.7567 0.9433 Uncertain 12_88178272_GCC->- 12 88178272 88178274 GCC - indel 5072.73 1/1 99 116 0 116 1.0 ncRNA_exonic rs10577456 MKRN9P AU 0.7298 0.9355 Uncertain 12_88178418_G->A 12 88178418 88178418 G A snp 93.28 1/1 9 3 0 3 1.0 ncRNA_exonic rs7136026 MKRN9P AU 0.175719 0.3581 Uncertain 12_88379566_A->G 12 88379566 88379566 A G snp 174.9 1/1 15 5 0 5 1.0 intronic rs10858676 C12orf50 AU NM_152589 exon3 c.5519-60A>G 0.994209 1 0.9981 1 Uncertain 12_88380094_T->C 12 88380094 88380094 T C snp 364.77 0/1 99 44 28 16 0.36 exonic rs10777084 C12orf50 AU nonsynonymous SNV NM_152589 exon10 c.A917G p.Q306R 0.303115 0.0565 0.311289 0.1577 0.0440 0.8 T 0.0 P -1.014 T 0.0 T 0.001 T Pathogenic 12_88381506_T->C 12 88381506 88381506 T C snp 155.77 0/1 99 10 4 6 0.6 intronic rs11104705 C12orf50 AU NM_152589 exon5 c.7519-120T>C 0.101238 0.0486 Uncertain 12_88453608_C->T 12 88453608 88453608 C T snp 314.78 1/1 24 10 0 10 1.0 intronic rs2471512 CEP290 AR,AU NM_025114 exon7 c.10714-66C>T 0.929513 0.9861 Uncertain 12_88454594_-->A 12 88454594 88454594 - A indel 918.73 1/1 41 35 2 33 0.94 intronic rs11405846 CEP290 AR,AU NM_025114 exon8 c.11646-12insA 0.761581 0.9573 0.762259 0.8612 0.9600 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000152969.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 12_88473049_C->T 12 88473049 88473049 C T snp 511.77 1/1 39 16 0 16 1.0 intronic rs2468245 CEP290 AR,AU NM_025114 exon16 c.30046+43C>T 0.764577 0.9673 0.771256 0.8841 0.9722 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000114200.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 12_88478317_A->- 12 88478317 88478317 A - indel 384.73 1/1 36 12 0 12 1.0 intronic rs11356711 CEP290 AR,AU NM_025114 exon20 c.35402-45delA 0.764377 0.9673 0.768719 0.8867 0.9755 Uncertain 12_88483273_A->- 12 88483273 88483273 A - indel 1680.73 1/1 99 67 0 67 1.0 intronic rs10717563 CEP290 AR,AU NM_025114 exon24 c.40304+9delA 0.873602 0.9911 0.872184 0.9161 0.9828 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000082247.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 12_88496838_C->G 12 88496838 88496838 C G snp 860.77 1/1 63 27 0 27 1.0 intronic rs2471532 CEP290 AR,AU NM_025114 exon29 c.53828+50C>G 0.764577 0.9673 0.772667 0.8683 0.9667 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000114191.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 12_88500847_T->C 12 88500847 88500847 T C snp 895.77 1/1 66 27 0 27 1.0 exonic rs11104738 CEP290 AR,AU nonsynonymous SNV NM_025114 exon24 c.A2512G p.K838E 0.0970447 0.2133 0.032674 0.0936 0.3380 1 T 1.0 P -0.968 T 0.0 T 0.0 T CLINSIG=non-pathogenic|probable-non-pathogenic;CLNDBN=not_provided|not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter|no_assertion_criteria_provided;CLNACC=RCV000086982.2|RCV000114189.2;CLNDSDB=MedGen|MedGen;CLNDSDBID=CN221809|CN169374 Pathogenic 12_88505078_T->C 12 88505078 88505078 T C snp 1796.77 1/1 99 64 0 64 1.0 exonic rs2468255 CEP290 AR,AU synonymous SNV NM_025114 exon22 c.A2268G p.S756S 0.764577 0.9673 0.771268 0.8888 0.9758 CLINSIG=non-pathogenic,probable-non-pathogenic;CLNDBN=not_provided,not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter,no_assertion_criteria_provided;CLNACC=RCV000124245.1,RCV000114186.2;CLNDSDB=MedGen,MedGen;CLNDSDBID=CN221809,CN169374 Uncertain 12_88508258_T->C 12 88508258 88508258 T C snp 1592.77 1/1 99 66 0 66 1.0 exonic rs79705698 CEP290 AR,AU nonsynonymous SNV NM_025114 exon20 c.A1991G p.D664G 0.0445288 0.1319 0.009358 0.0161 0.1348 0.15 T 1.0 P -1.032 T 0.971 D 0.71 D CLINSIG=non-pathogenic|probable-non-pathogenic;CLNDBN=not_provided|not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter|no_assertion_criteria_provided;CLNACC=RCV000086981.2|RCV000114185.2;CLNDSDB=MedGen|MedGen;CLNDSDBID=CN221809|CN169374 Pathogenic 12_88522823_-->C 12 88522823 88522823 - C indel 2909.73 1/1 99 66 0 66 1.0 intronic rs71082425 CEP290 AR,AU NM_025114 exon44 c.79852+11insC 0.873602 0.9911 0.9284 0.9910 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000152981.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 12_88522936_-->TTA 12 88522936 88522936 - TTA indel 530.74 1/1 30 13 0 13 1.0 intronic rs371652299 CEP290 AR,AU NM_025114 exon44 c.79852+124insTTA 0.922724 0.9921 Uncertain 12_88525014_A->T 12 88525014 88525014 A T snp 59.74 1/1 6 3 0 3 1.0 intronic rs113132803 CEP290 AR,AU NM_025114 exon48 c.82035+19A>T 0.0547125 0.0288 0.046474 0.0336 0.0226 Uncertain 12_88547277_T->C 12 88547277 88547277 T C snp 998.77 1/1 72 37 0 37 1.0 exonic rs2468230 TMTC3 AU synonymous SNV NM_181783 exon3 c.T399C p.H133H 0.9998 1 0.999923 1.0000 1 Uncertain 12_88547360_A->G 12 88547360 88547360 A G snp 172.9 1/1 15 6 0 6 1.0 intronic rs58298677 TMTC3 AU NM_181783 exon3 c.5194+74A>G 0.0455272 0.128 Uncertain 12_89743223_G->A 12 89743223 89743223 G A snp 4996.77 1/1 99 177 0 177 1.0 exonic rs704075 DUSP6 AD synonymous SNV NM_001946 exon3 c.C954T p.D318D 0.985024 1 0.988159 0.9965 1 Uncertain 12_89744246_T->G 12 89744246 89744246 T G snp 119.77 0/1 99 7 3 4 0.57 intronic rs704078 DUSP6 AD NM_001946 exon2 c.1334-118T>G 0.112021 0.0198 Uncertain 12_89744773_A->C 12 89744773 89744773 A C snp 3496.77 1/1 99 125 0 125 1.0 exonic rs770087 DUSP6 AD nonsynonymous SNV NM_001946 exon2 c.T430G p.S144A 0.217452 0.0248 0.260956 0.2375 0.0444 0.09 T 0.000 P -0.970 T 0.0 T 0.001 T Pathogenic 12_89744826_A->G 12 89744826 89744826 A G snp 616.77 0/1 99 44 21 23 0.52 intronic rs808820 DUSP6 AD NM_001946 exon2 c.1772+24A>G 0.111821 0.0198 0.116051 0.1486 0.0372 1.0 P -0.914 T Uncertain 12_89853408_G->A 12 89853408 89853408 G A snp 848.77 1/1 63 26 0 26 1.0 intronic rs4842658 POC1B AR NM_001199777 exon3 c.38485-6G>A 0.749002 0.7351 0.760625 0.7451 0.7611 Uncertain 12_89853694_G->A 12 89853694 89853694 G A snp 453.77 1/1 33 18 0 18 1.0 intronic rs7953615 POC1B AR NM_001199777 exon3 c.38566+199G>A 0.749201 0.7351 Uncertain 12_89861265_C->G 12 89861265 89861265 C G snp 1386.77 1/1 99 48 0 48 1.0 intronic rs9308287 POC1B AR NM_001199777 exon5 c.46464-128C>G 0.72504 0.7361 Uncertain 12_89861529_T->C 12 89861529 89861529 T C snp 441.77 0/1 99 25 10 15 0.6 intronic rs10506972 POC1B AR NM_001199777 exon5 c.46533+67T>C 0.199681 0.1905 0.209593 Uncertain 12_89864432_T->A 12 89864432 89864432 T A snp 554.77 1/1 42 14 0 14 1.0 intronic rs10777167 POC1B AR NM_001199777 exon6 c.49342+161T>A 0.740615 0.7361 Uncertain 12_89866055_AGAAAGAAGA->- 12 89866055 89866064 AGAAAGAAGA - indel 6408.73 0/1 99 140 73 67 0.48 splicing rs398055805 POC1B AR NM_001199777 exon8 c.51123+3_51123+12delAGAAAGAAGA 0.539936 0.5456 0.525752 0.4893 0.5747 ID=COSM1606735;OCCURENCE=1(liver) Pathogenic 12_89885923_C->A 12 89885923 89885923 C A snp 103.77 0/1 99 19 13 6 0.32 intronic rs6538189 POC1B AR NM_001199777 exon9 c.70963+31C>A 0.199681 0.1905 0.186129 0.2344 0.1924 Uncertain 12_89885942_T->C 12 89885942 89885942 T C snp 65.77 0/1 94 12 9 3 0.25 intronic rs6538190 POC1B AR NM_001199777 exon9 c.70963+50T>C 0.20008 0.1925 0.178153 0.2154 0.1773 Uncertain 12_89917518_A->G 12 89917518 89917518 A G snp 5486.77 1/1 99 187 0 187 1.0 exonic rs2230281 GALNT4 AU nonsynonymous SNV NM_003774 exon1 c.T809C p.I270T 0.733626 0.7361 0.734378 0.7133 0.7599 0.24 T 0.001 P -0.985 T 0.0 T 0.0 T Pathogenic 12_89919631_CC->- 12 89919631 89919632 CC - indel 197.73 0/1 99 12 6 6 0.5 intronic rs67346689 POC1B AR NM_172240 exon12 c.104728-26_104728-25delCC 0.208067 0.1895 0.220850 0.3548 0.3061 Uncertain 12_90015579_-->A 12 90015579 90015579 - A indel 616.27 1/1 1 44 4 40 0.91 intronic rs35089871 ATP2B1 AU NM_001682 exon12 c.30808+11insA 0.589457 0.5992 0.582799 0.5706 0.5615 Uncertain 12_91334194_T->C 12 91334194 91334194 T C snp 227.84 1/1 18 8 0 8 1.0 ncRNA_intronic rs4520662 LINC00615 AU 0.994409 1 Uncertain 12_91358169_T->C 12 91358169 91358169 T C snp 133.03 1/1 12 4 0 4 1.0 intronic rs1920741 EPYC AU NM_004950 exon1 c.171+66T>C 0.623003 0.8065 Uncertain 12_91372043_A->- 12 91372043 91372043 A - indel 69.73 0/1 42 13 4 9 0.69 splicing rs398020571 EPYC AU NM_004950 exon5 c.14107+4delA 0.4924 0.4901 ID=COSM1735994;OCCURENCE=1(central_nervous_system) Pathogenic 12_91449984_C->T 12 91449984 91449984 C T snp 1954.77 0/1 99 163 82 81 0.5 exonic rs12320366 KERA AR synonymous SNV NM_007035 exon2 c.G75A p.Q25Q 0.225639 0.0804 0.252538 0.1494 0.0847 Uncertain 12_91449990_C->T 12 91449990 91449990 C T snp 1908.77 0/1 99 164 80 84 0.51 exonic rs2735333 KERA AR synonymous SNV NM_007035 exon2 c.G69A p.V23V 0.620008 0.7976 0.633113 0.7249 0.7859 Uncertain 12_91539675_G->A 12 91539675 91539675 G A snp 38.77 0/1 67 5 3 2 0.4 UTR3 rs7441 DCN AD 0.0876597 0.0595 Uncertain 12_91572415_C->T 12 91572415 91572415 C T snp 565.77 0/1 99 53 30 23 0.43 intronic rs3138167 DCN AD NM_001920 exon7 c.32528+53C>T 0.154752 0.1538 Uncertain 12_92381999_G->T 12 92381999 92381999 G T snp 65.77 0/1 94 22 17 5 0.23 intronic C12orf79 AU NM_001256373 exon2 c.217+429G>T Uncertain 12_92539344_T->C 12 92539344 92539344 T C snp 1822.77 1/1 99 64 0 64 1.0 UTR5 rs709223 BTG1 AU 0.853634 0.7212 0.879927 0.8346 0.7296 Uncertain 12_93131203_A->C 12 93131203 93131203 A C snp 4553.77 1/1 99 177 0 177 1.0 UTR5 rs2036553 PLEKHG7 AU 0.576478 0.8889 0.440867 Uncertain 12_93139234_C->T 12 93139234 93139234 C T snp 1214.77 0/1 99 110 55 55 0.5 intronic rs10859378 PLEKHG7 AU NM_001004330 exon5 c.7959-19C>T 0.0742812 0.1875 0.035445 0.0653 0.1997 Uncertain 12_93147907_A->T 12 93147907 93147907 A T snp 1804.77 1/1 99 59 0 59 1.0 exonic rs9669519 PLEKHG7 AU synonymous SNV NM_001004330 exon6 c.A357T p.P119P 0.652756 0.8919 0.512686 0.5704 0.9051 Uncertain 12_93150102_T->C 12 93150102 93150102 T C snp 2328.77 1/1 99 86 0 86 1.0 exonic rs924326 PLEKHG7 AU nonsynonymous SNV NM_001004330 exon8 c.T635C p.M212T 0.647564 0.8919 0.506612 0.5706 0.9044 1 T 0.0 P -0.946 T 0.001 T 0.0 T Pathogenic 12_93155400_AAGAAAGA->- 12 93155400 93155407 AAGAAAGA - indel 963.73 0/1 99 24 11 13 0.54 intronic rs201381357 PLEKHG7 AU NM_001004330 exon9 c.24233-127_24233-120delAAGAAAGA 0.996805 0.998 Uncertain 12_93155535_G->A 12 93155535 93155535 G A snp 1873.77 1/1 99 72 0 72 1.0 exonic rs1504907 PLEKHG7 AU synonymous SNV NM_001004330 exon9 c.G708A p.T236T 0.851038 0.9494 0.821676 0.8394 0.9463 Uncertain 12_93196422_T->G 12 93196422 93196422 T G snp 1848.77 1/1 99 67 0 67 1.0 exonic rs10745623 EEA1 AU nonsynonymous SNV NM_003566 exon19 c.A2428C p.K810Q 0.705471 0.9405 0.591889 0.6842 0.9392 0.33 T 0.0 P -1.012 T 0.012 T 0.006 T Pathogenic 12_93202801_C->T 12 93202801 93202801 C T snp 3327.77 1/1 99 133 0 133 1.0 exonic rs7970286 EEA1 AU synonymous SNV NM_003566 exon18 c.G2331A p.E777E 0.46845 0.8681 0.300246 0.4329 0.8913 Uncertain 12_93206878_G->A 12 93206878 93206878 G A snp 564.77 1/1 42 18 0 18 1.0 intronic rs3925797 EEA1 AU NM_003566 exon14 c.37083+9G>A 0.915136 0.9623 0.903337 0.9259 0.9589 Uncertain 12_93236402_C->T 12 93236402 93236402 C T snp 476.77 1/1 36 19 0 19 1.0 intronic rs7300619 EEA1 AU NM_003566 exon20 c.66571+45C>T 0.954473 1 0.935519 0.9429 0.9998 Uncertain 12_93236419_T->G 12 93236419 93236419 T G snp 277.8 1/1 21 13 1 12 0.92 intronic rs7316894 EEA1 AU NM_003566 exon20 c.66571+62T>G 0.472644 0.869 Uncertain 12_93247775_-->ATA 12 93247775 93247775 - ATA indel 1273.73 1/1 69 30 0 30 1.0 intronic rs113335486 EEA1 AU NM_003566 exon24 c.77944+45insATA 0.703075 0.9405 0.581732 0.6648 0.9359 Uncertain 12_93258453_T->C 12 93258453 93258453 T C snp 54.74 1/1 6 2 0 2 1.0 intronic rs10859386 EEA1 AU NM_003566 exon27 c.88849-182T>C 0.703474 0.9405 Uncertain 12_93258498_A->G 12 93258498 93258498 A G snp 593.77 1/1 45 18 0 18 1.0 intronic rs11106721 EEA1 AU NM_003566 exon27 c.88849-137A>G 0.469649 0.8681 Uncertain 12_93289285_A->- 12 93289285 93289285 A - indel 194.74 1/1 30 18 1 17 0.94 intronic rs398020623 EEA1 AU NM_003566 exon28 c.115711+3788delA 0.885783 0.9177 Uncertain 12_93609340_A->C 12 93609340 93609340 A C snp 141.03 1/1 12 5 0 5 1.0 ncRNA_intronic rs7305552 LOC643339 AU 0.724042 0.8433 0.7289 0.8906 Uncertain 12_93609512_C->G 12 93609512 93609512 C G snp 313.77 0/1 99 26 12 14 0.54 ncRNA_intronic rs12318032 LOC643339 AU 0.10643 0.1508 Uncertain 12_93721801_A->G 12 93721801 93721801 A G snp 1368.77 1/1 99 49 0 49 1.0 ncRNA_splicing rs7976742 LOC643339 AU 0.336462 0.376 0.3733 0.3182 Uncertain 12_93721949_-->C 12 93721949 93721949 - C indel 592.73 1/1 51 19 0 19 1.0 ncRNA_intronic rs11380531 LOC643339 AU 0.826278 0.8224 Uncertain 12_93771224_T->C 12 93771224 93771224 T C snp 2041.77 0/1 99 166 83 83 0.5 ncRNA_exonic rs35443572 LOC643339 AU 0.141973 0.2688 0.1157 0.2955 Uncertain 12_93788339_A->T 12 93788339 93788339 A T snp 31.77 0/1 60 4 2 2 0.5 ncRNA_intronic rs12811952 NUDT4P1 AU 0.140775 0.0337 0.163759 0.1628 0.0277 Uncertain 12_93805407_-->A 12 93805407 93805407 - A indel 320.73 0/1 99 26 14 12 0.46 intronic rs35124423 UBE2N AU NM_003348 exon3 c.1261+332insA 0.138578 0.2034 Uncertain 12_93863162_C->G 12 93863162 93863162 C G snp 276.77 0/1 91 13 3 10 0.77 intronic rs4761721 MRPL42 AU NM_172177 exon2 c.70+31C>G 0.484425 0.4296 0.525631 0.5435 0.4712 Uncertain 12_93864474_A->G 12 93864474 93864474 A G snp 65.77 0/1 94 12 9 3 0.25 intronic rs1552861 MRPL42 AU NM_172177 exon2 c.70+1343A>G 0.474042 0.4296 Uncertain 12_93873089_-->A 12 93873089 93873089 - A indel 65.73 0/1 97 18 6 12 0.67 intronic rs34328828 MRPL42 AU NM_172177 exon4 c.10102-74insA 0.455272 0.379 Uncertain 12_93894779_A->T 12 93894779 93894779 A T snp 101.28 1/1 9 4 0 4 1.0 intronic rs6538424 MRPL42 AU NM_172177 exon6 c.31890-172A>T 0.596845 0.4534 Uncertain 12_93894823_G->C 12 93894823 93894823 G C snp 190.9 1/1 15 8 0 8 1.0 intronic rs6538425 MRPL42 AU NM_172177 exon6 c.31890-128G>C 0.597045 0.4534 Uncertain 12_93897779_-->T 12 93897779 93897779 - T indel 150.77 1/1 21 7 0 7 1.0 downstream rs35963955 MRPL42 AU Uncertain 12_93898249_A->G 12 93898249 93898249 A G snp 98.28 1/1 9 5 0 5 1.0 downstream rs7971966 MRPL42 AU 0.597444 0.4563 Uncertain 12_93967035_A->G 12 93967035 93967035 A G snp 1337.77 0/1 99 94 46 48 0.51 intronic rs930316 SOCS2 AU NM_003877 exon2 c.139+223A>G 0.21885 0.4097 Uncertain 12_94132057_G->T 12 94132057 94132057 G T snp 2011.77 0/1 99 198 110 88 0.44 intronic rs6538449 CRADD AU NM_003805 exon2 c.298+59209G>T 0.0872604 0.0625 0.0611 0.1154 0 D 0.093 P -1.052 T Uncertain 12_94132186_T->A 12 94132186 94132186 T A snp 1755.77 0/1 99 141 68 73 0.52 intronic rs6538450 CRADD AU NM_003805 exon2 c.298+59338T>A 0.259784 0.256 0.1168 0.2391 0.63 T 0.000 P -1.046 T Uncertain 12_94253033_T->A 12 94253033 94253033 T A snp 1361.77 1/1 99 44 0 44 1.0 intergenic rs10859603 CRADD AU 0.454073 0.2579 Uncertain 12_94543506_C->T 12 94543506 94543506 C T snp 2842.77 0/1 99 250 138 112 0.45 exonic rs2230754 PLXNC1 AU synonymous SNV NM_005761 exon1 c.C759T p.Y253Y 0.451478 0.4831 0.386006 0.3892 0.4146 Uncertain 12_94562802_G->A 12 94562802 94562802 G A snp 263.8 1/1 21 8 0 8 1.0 intronic rs2361358 PLXNC1 AU NM_005761 exon2 c.20181-126G>A 0.895966 0.9524 Uncertain 12_94562875_C->G 12 94562875 94562875 C G snp 1620.77 1/1 99 52 0 52 1.0 intronic rs2361359 PLXNC1 AU NM_005761 exon2 c.20181-53C>G 0.877995 0.9742 Uncertain 12_94563134_-->T 12 94563134 94563134 - T indel 1415.73 1/1 99 57 0 57 1.0 intronic rs3214968 PLXNC1 AU NM_005761 exon2 c.20322+65insT 0.778155 0.9147 Uncertain 12_94580286_T->C 12 94580286 94580286 T C snp 3623.77 1/1 99 126 0 126 1.0 intronic rs3751189 PLXNC1 AU NM_005761 exon4 c.37502+37T>C 0.240615 0.2004 0.260572 0.2434 0.2261 Uncertain 12_94603249_G->A 12 94603249 94603249 G A snp 1901.77 1/1 99 65 0 65 1.0 intronic rs2610671 PLXNC1 AU NM_005761 exon5 c.60618-116G>A 1 1 Uncertain 12_94603300_C->T 12 94603300 94603300 C T snp 3459.77 1/1 99 125 0 125 1.0 intronic rs2305971 PLXNC1 AU NM_005761 exon5 c.60618-65C>T 0.532548 0.6756 Uncertain 12_94620795_G->A 12 94620795 94620795 G A snp 43.77 0/1 72 7 4 3 0.43 intronic rs150361353 PLXNC1 AU NM_005761 exon9 c.78177-129G>A 0.00798722 0.004 Uncertain 12_94637557_C->T 12 94637557 94637557 C T snp 351.78 1/1 27 10 0 10 1.0 intronic rs864106 PLXNC1 AU NM_005761 exon12 c.94966-156C>T 0.95647 1 Uncertain 12_94645255_A->G 12 94645255 94645255 A G snp 5878.77 1/1 99 215 0 215 1.0 exonic rs2230757 PLXNC1 AU synonymous SNV NM_005761 exon15 c.A2832G p.T944T 0.608626 0.7411 0.560357 0.5977 0.7636 Uncertain 12_94648493_A->G 12 94648493 94648493 A G snp 1179.77 0/1 99 81 32 49 0.6 intronic rs7980141 PLXNC1 AU NM_005761 exon16 c.105815-69A>G 0.556909 0.5228 0.5823 0.5460 Uncertain 12_94649103_T->C 12 94649103 94649103 T C snp 2592.77 0/1 99 247 141 106 0.43 intronic rs865569 PLXNC1 AU NM_005761 exon17 c.106325+31T>C 0.710863 0.619 0.785330 0.7961 0.6202 Uncertain 12_94653227_T->C 12 94653227 94653227 T C snp 605.77 0/1 99 54 30 24 0.44 intronic rs2306664 PLXNC1 AU NM_005761 exon18 c.110404+76T>C 0.548123 0.4524 0.579063 Uncertain 12_94671565_A->G 12 94671565 94671565 A G snp 1977.77 0/1 99 145 72 73 0.5 intronic rs832507 PLXNC1 AU NM_005761 exon22 c.130500-1682A>G 0.66274 0.6468 Uncertain 12_94671743_G->C 12 94671743 94671743 G C snp 5441.77 1/1 99 186 0 186 1.0 intronic rs832506 PLXNC1 AU NM_005761 exon22 c.130500-1504G>C 0.94389 0.9861 0.9300 0.9930 0 D 0.0 P -1.001 T Uncertain 12_94671923_A->- 12 94671923 94671923 A - indel 1927.73 0/1 99 176 100 76 0.43 intronic rs11341959 PLXNC1 AU NM_005761 exon22 c.130500-1324delA 0.66274 0.6478 0.6912 0.6311 Uncertain 12_94673510_C->- 12 94673510 94673510 C - indel 1129.73 0/1 99 73 31 42 0.58 intronic rs10713724 PLXNC1 AU NM_005761 exon22 c.130678+85delC 0.661342 0.6429 0.7248 0.7287 Uncertain 12_94688232_C->A 12 94688232 94688232 C A snp 1055.77 1/1 78 34 0 34 1.0 intronic rs1880934 PLXNC1 AU NM_005761 exon24 c.145514-29C>A 0.827676 0.9633 0.734010 0.7243 0.9729 Uncertain 12_94694743_T->C 12 94694743 94694743 T C snp 2800.77 0/1 99 235 110 125 0.53 exonic rs2272335 PLXNC1 AU synonymous SNV NM_005761 exon28 c.T4296C p.I1432I 0.0165735 0.0516 0.000846 0.0114 0.0668 Uncertain 12_94697525_T->C 12 94697525 94697525 T C snp 199.77 0/1 99 28 17 11 0.39 intronic rs1057977 PLXNC1 AU NM_005761 exon29 c.154784-6T>C 0.021334 0.1691 0.1714 Uncertain 12_94698880_C->T 12 94698880 94698880 C T snp 191.77 0/1 99 14 7 7 0.5 intronic rs3803071 PLXNC1 AU NM_005761 exon31 c.156209-76C>T 0.47504 0.3313 Uncertain 12_94729665_A->G 12 94729665 94729665 A G snp 172.9 1/1 15 6 0 6 1.0 intronic rs4761474 CEP83 AR NM_016122 exon6 c.26852+225A>G 0.992412 1 Uncertain 12_94769758_A->G 12 94769758 94769758 A G snp 1130.77 1/1 78 51 0 51 1.0 exonic rs4761611 CEP83 AR synonymous SNV NM_016122 exon8 c.T837C p.R279R 0.833666 0.9633 0.734564 0.7261 0.9763 Uncertain 12_94772742_C->T 12 94772742 94772742 C T snp 2037.77 0/1 99 150 68 82 0.55 exonic rs2271979 CEP83 AR nonsynonymous SNV NM_016122 exon7 c.G626A p.R209Q 0.13119 0.3224 0.055020 0.1085 0.3275 0.47 T 0.993 P -0.921 T 0.761 T 0.11 P Pathogenic 12_94794801_G->A 12 94794801 94794801 G A snp 136.77 0/1 99 26 19 7 0.27 intronic rs76748645 CEP83 AR NM_016122 exon12 c.92169+44G>A 0.0511182 0.0665 0.044123 0.0646 0.0811 Uncertain 12_94972290_C->T 12 94972290 94972290 C T snp 1996.77 1/1 99 74 0 74 1.0 exonic rs2270893 TMCC3 AU synonymous SNV NM_001301036 exon3 c.G918A p.E306E 0.519968 0.4653 0.530678 0.5446 0.4541 Uncertain 12_94975799_G->A 12 94975799 94975799 G A snp 6044.77 1/1 99 213 0 213 1.0 exonic rs3747553 TMCC3 AU synonymous SNV NM_001301036 exon2 c.C501T p.F167F 0.687101 0.5972 0.654237 0.6114 0.5872 Uncertain 12_94976084_T->C 12 94976084 94976084 T C snp 4812.77 1/1 99 169 0 169 1.0 exonic rs3747552 TMCC3 AU synonymous SNV NM_001301036 exon2 c.A216G p.A72A 0.699281 0.6002 0.665078 0.6166 0.5894 Uncertain 12_94976159_T->C 12 94976159 94976159 T C snp 4754.77 1/1 99 172 0 172 1.0 exonic rs3747551 TMCC3 AU synonymous SNV NM_001301036 exon2 c.A141G p.V47V 0.326278 0.3522 0.314009 0.3458 0.3286 Uncertain 12_94976383_T->A 12 94976383 94976383 T A snp 626.77 1/1 48 23 0 23 1.0 intronic rs3747550 TMCC3 AU NM_001301036 exon3 c.11104+69T>A 0.585663 0.496 Uncertain 12_95044161_A->C 12 95044161 95044161 A C snp 1792.77 1/1 99 75 1 74 0.99 exonic rs1274523 TMCC3 AU nonsynonymous SNV NM_020698 exon1 c.T46G p.Y16D 0.995407 0.999 0.9946 1 0.23 T 1.000 P -1.003 T 0.0 T 0.0 T Pathogenic 12_95228007_T->G 12 95228007 95228007 T G snp 396.77 1/1 30 12 0 12 1.0 upstream rs2289031 KRT19P2 AU 0.959065 0.9167 Uncertain 12_95322133_C->T 12 95322133 95322133 C T snp 218.77 0/1 99 20 10 10 0.5 intergenic rs2033092 KRT19P2 AU 0.398363 0.38 Uncertain 12_95434452_C->T 12 95434452 95434452 C T snp 311.77 0/1 99 21 9 12 0.57 intronic rs11107870 NR2C1 AU NM_001127362 exon3 c.9783+79C>T 0.0924521 0.1101 Uncertain 12_95442724_C->T 12 95442724 95442724 C T snp 34.77 0/1 63 6 4 2 0.33 intronic rs183656 NR2C1 AU NM_001127362 exon4 c.18253-119C>T 0.749201 0.5764 Uncertain 12_95453784_G->A 12 95453784 95453784 G A snp 52.77 0/1 69 5 2 3 0.6 intronic NR2C1 AU NM_001127362 exon9 c.29170+24G>A 0.0029 0.0018 Uncertain 12_95498748_AA->- 12 95498748 95498749 AA - indel 622.73 ./1 99 33 2 31 0.94 intronic rs200852853 FGD6 AU NM_018351 exon8 c.23487-34_23487-33delAA 0.3572 0.4123 Uncertain 12_95498748_A->- 12 95498748 95498748 A - indel 622.73 ./1 99 33 2 31 0.94 intronic rs11331948 FGD6 AU NM_018351 exon8 c.23487-34delA 0.3561 0.3664 Uncertain 12_95500635_A->G 12 95500635 95500635 A G snp 198.77 0/1 60 9 2 7 0.78 intronic rs61938198 FGD6 AU NM_018351 exon9 c.25434-94A>G 0.303514 0.4296 Uncertain 12_95500700_-->AAC 12 95500700 95500700 - AAC indel 5879.73 ./1 99 87 0 87 1.0 intronic rs10694512 FGD6 AU NM_018351 exon9 c.25434-29insAAC 0.273363 0.254 Uncertain 12_95500700_-->AACAAAAC 12 95500700 95500700 - AACAAAAC indel 5879.73 ./1 99 87 0 87 1.0 intronic rs10694512 FGD6 AU NM_018351 exon9 c.25434-29insAACAAAAC 0.184305 0.2073 Uncertain 12_95500727_C->G 12 95500727 95500727 C G snp 3450.77 1/1 99 131 0 131 1.0 splicing rs7138545 FGD6 AU NM_018351 exon9 c.25434-2C>G 0.621006 0.6617 0.628864 0.6531 0.6822 Pathogenic 12_95502519_A->C 12 95502519 95502519 A C snp 44.74 1/1 6 2 0 2 1.0 intronic rs6538591 FGD6 AU NM_018351 exon12 c.27042+182A>C 0.617812 0.6627 Uncertain 12_95510811_T->G 12 95510811 95510811 T G snp 541.77 1/1 42 15 0 15 1.0 intronic rs6419371 FGD6 AU NM_018351 exon13 c.32182+3334T>G 0.897764 0.8194 Uncertain 12_95639261_G->A 12 95639261 95639261 G A snp 3944.77 1/1 99 141 0 141 1.0 intronic rs7979908 VEZT AU NM_017599 exon2 c.34089-6454G>A 0.889976 0.8214 0.8647 0.8232 Uncertain 12_95645872_T->C 12 95645872 95645872 T C snp 305.77 0/1 99 51 37 14 0.27 intronic VEZT AU NM_017599 exon2 c.34221+25T>C Uncertain 12_95651888_T->C 12 95651888 95651888 T C snp 641.77 1/1 48 18 0 18 1.0 intronic rs6538624 VEZT AU NM_017599 exon3 c.39389+873T>C 0.889776 0.8214 Uncertain 12_95668406_T->C 12 95668406 95668406 T C snp 543.77 0/1 99 53 33 20 0.38 intronic rs73376208 VEZT AU NM_017599 exon7 c.56891-111T>C 0.130791 0.121 Uncertain 12_95693943_G->A 12 95693943 95693943 G A snp 351.77 0/1 99 23 11 12 0.52 exonic rs17344738 VEZT AU nonsynonymous SNV NM_017599 exon12 c.G1834A p.V612M 0.0702875 0.0417 0.045920 0.1311 0.0650 0.03 T 0.938 D -1.057 T 0.822 T 0.074 P Pathogenic 12_95694394_G->A 12 95694394 95694394 G A snp 559.77 0/1 99 35 16 19 0.54 exonic rs14121 VEZT AU nonsynonymous SNV NM_017599 exon12 c.G2285A p.G762D 0.756589 0.6627 0.776539 0.7234 0.6798 1 T 0.008 P -0.990 T 0.0 T 0.0 T Pathogenic 12_95702385_T->C 12 95702385 95702385 T C snp 1727.77 0/1 99 135 65 70 0.52 downstream rs11107973 MIR331 AU 0.463059 0.2907 Uncertain 12_95771236_T->C 12 95771236 95771236 T C snp 1871.77 1/1 99 62 0 62 1.0 intergenic rs2727663 MIR3685 AU 0.78135 0.6796 Uncertain 12_95771344_A->G 12 95771344 95771344 A G snp 54.74 1/1 6 2 0 2 1.0 intergenic rs2633999 MIR3685 AU 0.751797 0.6796 Uncertain 12_95878552_T->A 12 95878552 95878552 T A snp 537.77 0/1 99 55 27 28 0.51 intronic rs7978914 METAP2 AU NM_006838 exon4 c.11699-1102T>A 0.315895 0.4673 Uncertain 12_95878751_T->G 12 95878751 95878751 T G snp 147.77 0/1 99 13 7 6 0.46 intronic rs301036 METAP2 AU NM_006838 exon4 c.11699-903T>G 0.71865 0.7302 Uncertain 12_95897997_T->C 12 95897997 95897997 T C snp 665.77 1/1 48 24 0 24 1.0 intronic rs2769469 METAP2 AU NM_006838 exon8 c.29982+60T>C 0.916733 1 Uncertain 12_95914687_T->C 12 95914687 95914687 T C snp 43.77 0/1 72 4 2 2 0.5 intronic rs7974596 USP44 AU NM_001278393 exon2 c.2843-85T>C 0.311901 0.4673 Uncertain 12_95927762_T->C 12 95927762 95927762 T C snp 3113.77 0/1 99 249 121 128 0.51 exonic rs3812813 USP44 AU nonsynonymous SNV NM_032147 exon2 c.A271G p.T91A 0.716054 0.7242 0.629479 0.6120 0.7135 1 T 0.001 P -0.965 T 0.0 T 0.001 T Pathogenic 12_95927927_C->T 12 95927927 95927927 C T snp 3233.06 0/1 99 222 95 127 0.57 exonic rs147287763 USP44 AU nonsynonymous SNV NM_032147 exon2 c.G106A p.E36K 0.000399361 0.002 0.000231 0.0006 0.0060 0.22 T 1 D -0.727 T 0.999 D 0.955 D Pathogenic 12_96053202_C->G 12 96053202 96053202 C G snp 42.77 0/1 33 3 1 2 0.67 ncRNA_intronic rs2367564 PGAM1P5 AU 0.835264 0.7391 Uncertain 12_96106943_T->C 12 96106943 96106943 T C snp 1325.77 0/1 99 129 67 62 0.48 intronic rs4129599 NTN4 AU NM_021229 exon7 c.54128-46T>C 0.384984 0.5367 0.326926 0.2569 0.5375 Uncertain 12_96180692_T->C 12 96180692 96180692 T C snp 1319.77 0/1 99 125 71 54 0.43 intronic rs59294014 NTN4 AU NM_021229 exon9 c.127855-24T>C 0.16873 0.4117 0.032139 0.1002 0.4174 Uncertain 12_96197201_G->T 12 96197201 96197201 G T snp 46.78 0/1 27 3 1 2 0.67 intergenic rs1561091 NTN4 AU 0.411542 0.5873 Uncertain 12_96217159_C->T 12 96217159 96217159 C T snp 340.77 0/1 99 15 5 10 0.67 intergenic rs10777742 NTN4 AU 0.320687 0.2778 Uncertain 12_96253003_-->G 12 96253003 96253003 - G indel 249.73 0/1 83 11 3 8 0.73 intronic rs11442183 SNRPF AU NM_003095 exon1 c.3+149insG 0.789137 0.7609 Uncertain 12_96260947_A->G 12 96260947 96260947 A G snp 277.77 0/1 99 21 8 13 0.62 exonic rs7960706 CCDC38 AU synonymous SNV NM_182496 exon16 c.T1599C p.F533F 0.314297 0.2014 0.363979 0.3809 0.2049 Uncertain 12_96263437_G->A 12 96263437 96263437 G A snp 414.77 0/1 99 23 9 14 0.61 intronic rs10735335 CCDC38 AU NM_182496 exon2 c.2498+86G>A 0.526757 0.3611 Uncertain 12_96263439_C->A 12 96263439 96263439 C A snp 417.77 0/1 99 23 9 14 0.61 intronic rs10735336 CCDC38 AU NM_182496 exon2 c.2498+88C>A 0.653355 0.3829 Uncertain 12_96284650_A->G 12 96284650 96284650 A G snp 467.77 0/1 99 50 31 19 0.38 exonic rs6538681 CCDC38 AU synonymous SNV NM_182496 exon9 c.T831C p.A277A 0.754393 0.745 0.761956 0.7179 0.7387 Uncertain 12_96300053_A->T 12 96300053 96300053 A T snp 997.77 0/1 99 88 48 40 0.45 intronic rs11611425 CCDC38 AU NM_182496 exon12 c.39311-111A>T 0.18111 0.1756 Uncertain 12_96300355_G->C 12 96300355 96300355 G C snp 130.03 1/1 12 4 0 4 1.0 intronic rs7976101 CCDC38 AU NM_182496 exon12 c.39376+126G>C 0.886581 0.9921 Uncertain 12_96312570_C->T 12 96312570 96312570 C T snp 225.77 0/1 99 18 8 10 0.56 intronic rs10777750 CCDC38 AU NM_182496 exon14 c.51800-83C>T 0.592053 0.7113 Uncertain 12_96330312_A->- 12 96330312 96330312 A - indel 477.73 1/1 48 20 0 20 1.0 intronic rs398020709 CCDC38 AU NM_182496 exon15 c.69448+11delA 0.452676 0.4504 0.4431 0.4880 Uncertain 12_96337183_A->G 12 96337183 96337183 A G snp 992.77 1/1 72 34 0 34 1.0 exonic rs7955450 AMDHD1 AU nonsynonymous SNV NM_152435 exon1 c.A7G p.S3G 0.71845 0.9554 0.6346 0.9545 0.41 T 0.0 P -1.004 T 0.0 T 0.0 T Pathogenic 12_96348536_C->A 12 96348536 96348536 C A snp 810.77 1/1 60 27 0 27 1.0 intronic rs11108351 AMDHD1 AU NM_152435 exon3 c.11512-152C>A 0.241813 0.4167 Uncertain 12_96354455_G->C 12 96354455 96354455 G C snp 2296.77 1/1 99 70 0 70 1.0 intronic rs2043608 AMDHD1 AU NM_152435 exon5 c.17225+54G>C 0.56849 0.5119 Uncertain 12_96355949_T->C 12 96355949 96355949 T C snp 96.28 1/1 9 3 0 3 1.0 intronic rs3751266 AMDHD1 AU NM_152435 exon6 c.18956-183T>C 0.56849 0.5109 Uncertain 12_96356048_-->AC 12 96356048 96356048 - AC indel 1745.73 1/1 99 34 0 34 1.0 intronic rs10649134 AMDHD1 AU NM_152435 exon6 c.18956-84insAC 0.761581 0.9554 Uncertain 12_96356060_G->A 12 96356060 96356060 G A snp 1323.77 1/1 96 46 0 46 1.0 intronic rs3751265 AMDHD1 AU NM_152435 exon6 c.18956-72G>A 0.568291 0.5109 Uncertain 12_96356280_-->C 12 96356280 96356280 - C indel 3321.73 1/1 99 88 0 88 1.0 intronic rs398098409 AMDHD1 AU NM_152435 exon6 c.19081+23insC 0.761781 0.9554 0.684744 0.6839 0.9439 Uncertain 12_96359257_A->G 12 96359257 96359257 A G snp 309.78 1/1 24 8 0 8 1.0 intronic rs4762258 AMDHD1 AU NM_152435 exon7 c.22287-206A>G 0.501997 0.4861 Uncertain 12_96359301_T->G 12 96359301 96359301 T G snp 1712.77 1/1 99 52 0 52 1.0 intronic rs4762657 AMDHD1 AU NM_152435 exon7 c.22287-162T>G 0.768371 0.9534 Uncertain 12_96359426_C->G 12 96359426 96359426 C G snp 6830.77 1/1 99 250 0 250 1.0 intronic rs4762658 AMDHD1 AU NM_152435 exon7 c.22287-37C>G 0.64996 0.5387 0.673535 0.6381 0.5678 Uncertain 12_96360350_A->T 12 96360350 96360350 A T snp 328.77 0/1 99 27 13 14 0.52 intronic rs1025606 AMDHD1 AU NM_152435 exon8 c.23110+64A>T 0.501597 0.4821 Uncertain 12_96361514_-->T 12 96361514 96361514 - T indel 201.92 1/1 5 25 2 23 0.92 intronic rs377162413 AMDHD1 AU NM_152435 exon9 c.24357-19insT 0.486422 0.5685 0.3182 0.4592 Uncertain 12_96371670_G->A 12 96371670 96371670 G A snp 817.77 0/1 99 60 26 34 0.57 intronic rs3764038 HAL AD NM_002108 exon4 c.3712-51G>A 0.277556 0.4554 0.210324 Uncertain 12_96371894_C->T 12 96371894 96371894 C T snp 1825.77 1/1 99 65 0 65 1.0 intronic rs4762659 HAL AD NM_002108 exon4 c.3847+38C>T 0.916134 0.9524 0.842304 0.8488 0.9405 Uncertain 12_96374554_G->A 12 96374554 96374554 G A snp 5147.77 1/1 99 190 1 189 0.99 intronic rs6538693 HAL AD NM_002108 exon6 c.6566-21G>A 0.916933 0.9534 0.842996 0.8491 0.9415 Uncertain 12_96374563_T->C 12 96374563 96374563 T C snp 4972.77 1/1 99 182 0 182 1.0 intronic rs6538694 HAL AD NM_002108 exon6 c.6566-12T>C 0.887181 0.9514 0.816162 0.8394 0.9412 Uncertain 12_96374614_C->T 12 96374614 96374614 C T snp 4355.77 1/1 99 162 0 162 1.0 exonic rs7297245 HAL AD nonsynonymous SNV NM_002108 exon16 c.G1315A p.V439I 0.911142 0.9514 0.842842 0.8468 0.9412 1 T 0.000 P -0.928 T 0.0 T 0.001 T Pathogenic 12_96374661_C->T 12 96374661 96374661 C T snp 1168.77 0/1 99 87 40 47 0.54 intronic rs76132301 HAL AD NM_002108 exon6 c.6632+20C>T 0.0325479 0.1577 0.000308 0.0119 0.1509 Uncertain 12_96374672_T->C 12 96374672 96374672 T C snp 2408.77 1/1 99 78 0 78 1.0 intronic rs6538695 HAL AD NM_002108 exon6 c.6632+31T>C 0.889577 0.9514 0.817056 0.8399 0.9412 Uncertain 12_96374683_C->T 12 96374683 96374683 C T snp 2042.77 1/1 99 63 0 63 1.0 intronic rs6538696 HAL AD NM_002108 exon6 c.6632+42C>T 0.706869 0.9246 0.609257 0.5921 0.9005 Uncertain 12_96374750_G->A 12 96374750 96374750 G A snp 124.77 0/1 99 9 3 6 0.67 intronic rs2270318 HAL AD NM_002108 exon6 c.6632+109G>A 0.519369 0.5595 Uncertain 12_96379806_G->A 12 96379806 96379806 G A snp 1860.77 0/1 99 196 106 90 0.46 intronic rs3213737 HAL AD NM_002108 exon9 c.11833-36G>A 0.45647 0.4385 0.477856 0.5336 0.4473 Uncertain 12_96384063_A->G 12 96384063 96384063 A G snp 629.77 0/1 99 52 24 28 0.54 intronic rs55634581 HAL AD NM_002108 exon12 c.16161-107A>G 0.184704 0.3661 Uncertain 12_96384122_T->C 12 96384122 96384122 T C snp 1185.77 0/1 99 98 50 48 0.49 intronic rs60881496 HAL AD NM_002108 exon12 c.16161-48T>C 0.190695 0.3849 0.105259 0.1396 0.3833 Uncertain 12_96384139_T->C 12 96384139 96384139 T C snp 1172.77 0/1 99 112 61 51 0.46 intronic rs57822148 HAL AD NM_002108 exon12 c.16161-31T>C 0.1873 0.3651 0.104952 0.1381 0.3556 Uncertain 12_96384249_T->C 12 96384249 96384249 T C snp 911.77 0/1 99 99 57 42 0.42 exonic rs36014288 HAL AD synonymous SNV NM_002108 exon10 c.A777G p.P259P 0.192692 0.3661 0.114409 0.1462 0.3553 Uncertain 12_96384345_T->C 12 96384345 96384345 T C snp 96.77 0/1 99 18 13 5 0.28 intronic rs17676826 HAL AD NM_002108 exon12 c.16301+35T>C 0.365815 0.4167 0.314393 0.3575 0.3983 Uncertain 12_96386630_T->C 12 96386630 96386630 T C snp 1682.77 0/1 99 134 65 69 0.51 intronic rs76668867 HAL AD NM_002108 exon13 c.18574+47T>C 0.186302 0.3562 0.102645 0.1376 0.3367 Uncertain 12_96386646_-->CCCT 12 96386646 96386646 - CCCT indel 1906.73 0/1 99 106 46 60 0.57 intronic rs111580568 HAL AD NM_002108 exon13 c.18574+63insCCCT 0.185703 0.3562 Uncertain 12_96387621_A->G 12 96387621 96387621 A G snp 858.77 0/1 99 69 35 34 0.49 splicing rs2302629 HAL AD NM_002108 exon15 c.19607+5A>G 0.579673 0.497 0.641308 0.5648 0.5021 Pathogenic 12_96387765_T->A 12 96387765 96387765 T A snp 2296.77 0/1 99 178 78 100 0.56 exonic rs2302628 HAL AD synonymous SNV NM_002108 exon6 c.A423T p.T141T 0.153554 0.3403 0.064432 0.0993 0.3288 Uncertain 12_96407086_A->G 12 96407086 96407086 A G snp 312.77 0/1 99 28 15 13 0.46 intronic rs12319438 LTA4H AU NM_001256643 exon6 c.12270+50A>G 0.21905 0.3204 0.138321 0.1573 0.3380 Uncertain 12_96409201_A->G 12 96409201 96409201 A G snp 150.84 0/1 18 6 1 5 0.83 intronic rs1978331 LTA4H AU NM_001256643 exon9 c.14594-159A>G 0.509984 0.4226 Uncertain 12_96429377_G->A 12 96429377 96429377 G A snp 1291.77 0/1 99 110 56 54 0.49 UTR5 rs17525495 LTA4H AU 0.166933 0.3313 Uncertain 12_96429438_T->- 12 96429438 96429438 T - indel 480.73 0/1 99 37 22 15 0.41 UTR5 rs17525488 LTA4H AU 0.167133 0.3313 Uncertain 12_96641016_C->T 12 96641016 96641016 C T snp 4982.77 1/1 99 178 0 178 1.0 exonic rs35332676 ELK3 AU nonsynonymous SNV NM_005230 exon3 c.C506T p.P169L 0.0720847 0.1091 0.028525 0.0519 0.1006 0.8 T 0.980 P -1.002 T 0.327 T 0.016 T Pathogenic 12_96653501_C->T 12 96653501 96653501 C T snp 2937.77 1/1 99 111 0 111 1.0 intronic rs4762144 ELK3 AU NM_001303511 exon2 c.4210-7C>T 0.921925 0.9504 0.895587 0.9040 0.9502 Uncertain 12_96677226_T->- 12 96677226 96677226 T - indel 53.86 0/1 2 6 1 5 0.83 intronic rs11345627 CDK17 AU NM_001170464 exon3 c.2833-154delT Uncertain 12_96694162_G->T 12 96694162 96694162 G T snp 642.77 1/1 48 19 0 19 1.0 intronic rs10777781 CDK17 AU NM_001170464 exon11 c.19591+24G>T 0.989417 1 0.976330 0.9792 0.9996 Uncertain 12_96883245_G->C 12 96883245 96883245 G C snp 130.78 0/1 27 7 1 6 0.86 intergenic rs3825265 CDK17 AU 0.623802 0.7341 Uncertain 12_96894774_C->A 12 96894774 96894774 C A snp 305.77 0/1 99 41 27 14 0.34 intergenic rs10860047 CDK17 AU 0.17512 0.4266 Uncertain 12_96900801_G->T 12 96900801 96900801 G T snp 2282.77 0/1 99 238 132 106 0.45 intergenic rs61730867 CDK17 AU 0.169928 0.4266 0.0785 0.49 Uncertain 12_96900998_A->G 12 96900998 96900998 A G snp 37.77 0/1 66 6 4 2 0.33 intergenic rs1861575 CDK17 AU 0.624002 0.7262 Uncertain 12_96912598_G->A 12 96912598 96912598 G A snp 253.77 0/1 99 18 9 9 0.5 intergenic rs11108564 CDK17 AU 0.604633 0.7321 Uncertain 12_96958227_C->T 12 96958227 96958227 C T snp 542.77 0/1 99 50 24 26 0.52 intergenic rs3803090 CDK17 AU 0.169329 0.4226 0.0746 0.4734 Uncertain 12_96970334_T->C 12 96970334 96970334 T C snp 267.84 0/1 18 11 3 8 0.73 intergenic rs74389429 CDK17 AU 0.00858626 0.0427 0.0019 0.0523 Uncertain 12_96986190_G->A 12 96986190 96986190 G A snp 320.77 0/1 99 40 23 17 0.42 intergenic rs2052293 CDK17 AU 0.399361 0.2341 Uncertain 12_96988037_C->G 12 96988037 96988037 C G snp 3803.77 1/1 99 125 0 125 1.0 intergenic rs815896 CDK17 AU 0.99381 1 0.9876 1 Uncertain 12_96992494_C->T 12 96992494 96992494 C T snp 1618.77 1/1 99 60 0 60 1.0 intergenic rs815890 CDK17 AU 0.698482 0.6865 0.6600 0.6970 Uncertain 12_97020673_T->C 12 97020673 97020673 T C snp 395.77 0/1 99 36 19 17 0.47 intergenic rs10507074 CDK17 AU 0.454073 0.2371 0.4134 0.2048 0.0 P -0.931 T Uncertain 12_97023937_A->C 12 97023937 97023937 A C snp 285.77 0/1 99 32 18 14 0.44 intergenic rs9919717 CDK17 AU 0.382388 0.2361 0.3654 0.2165 0.0 P -1.060 T Uncertain 12_97023991_C->T 12 97023991 97023991 C T snp 211.77 0/1 99 18 9 9 0.5 intergenic rs1362949 CDK17 AU 0.382388 0.2361 0.3789 0.2158 Uncertain 12_97024017_G->- 12 97024017 97024017 G - indel 159.73 0/1 99 10 5 5 0.5 intergenic rs35205059 CDK17 AU 0.45028 0.2361 0.3719 0.2120 Uncertain 12_97041523_A->C 12 97041523 97041523 A C snp 96.28 1/1 9 3 0 3 1.0 intergenic rs10860058 CDK17 AU 0.797923 0.8552 Uncertain 12_97051633_T->- 12 97051633 97051633 T - indel 368.74 1/1 29 15 1 14 0.93 intergenic rs10710617 CDK17 AU 0.797724 0.8552 0.8085 0.8788 Uncertain 12_97073271_G->A 12 97073271 97073271 G A snp 74.77 0/1 65 5 2 3 0.6 intergenic rs10860065 CDK17 AU 0.227436 0.4623 Uncertain 12_97073297_T->G 12 97073297 97073297 T G snp 93.77 0/1 99 12 8 4 0.33 intergenic rs10860066 CDK17 AU 0.227835 0.4623 Uncertain 12_97079041_C->G 12 97079041 97079041 C G snp 137.77 0/1 99 15 10 5 0.33 intergenic rs7974435 CDK17 AU 0.688698 0.4851 0.657773 0.6584 0.4625 Uncertain 12_97079043_G->A 12 97079043 97079043 G A snp 514.77 1/1 39 13 0 13 1.0 intergenic rs7974634 CDK17 AU 0.920927 0.9474 0.846763 0.8636 0.9528 Uncertain 12_97085107_A->C 12 97085107 97085107 A C snp 3760.77 1/1 99 119 0 119 1.0 intergenic rs4762319 CDK17 AU 0.920527 0.9474 0.859120 0.8751 0.9537 Uncertain 12_97098549_T->C 12 97098549 97098549 T C snp 926.77 1/1 66 33 0 33 1.0 intergenic rs11108643 CDK17 AU 0.820687 0.9077 0.771277 0.7561 0.9174 0.94 T 0.676 P -0.950 T 0.0 T 0.0 T Uncertain 12_97102578_G->A 12 97102578 97102578 G A snp 2075.77 1/1 99 78 0 78 1.0 intergenic rs7968231 CDK17 AU 0.91853 0.9484 0.855660 0.8649 0.9529 1 T 0.000 P -0.929 T 0.0 T 0.0 T Uncertain 12_97102701_TATA->- 12 97102701 97102704 TATA - indel 714.73 0/1 99 25 8 17 0.68 intergenic rs10581594 CDK17 AU 0.367013 0.2351 Uncertain 12_97114231_G->A 12 97114231 97114231 G A snp 663.77 0/1 99 50 19 31 0.62 intergenic rs10860073 CDK17 AU 0.15635 0.4246 0.081347 0.1072 0.4610 0.52 T 0.0 P -0.909 T 0.997 D 0.79 D Uncertain 12_97136218_T->C 12 97136218 97136218 T C snp 713.77 0/1 99 38 9 29 0.76 intergenic rs7978894 CDK17 AU 0.429113 0.5625 0.361846 0.3530 0.5872 0.6 T 0.0 P -0.945 T 0.0 T 0.0 T Uncertain 12_97136239_G->A 12 97136239 97136239 G A snp 1351.77 1/1 96 54 0 54 1.0 intergenic rs1990828 CDK17 AU 0.91234 0.9474 0.849000 0.8537 0.9533 0.85 T 0.0 P -0.983 T 0.0 T 0.0 T Uncertain 12_97147503_G->C 12 97147503 97147503 G C snp 1105.77 0/1 99 95 48 47 0.49 intergenic rs1420649 CDK17 AU 0.459665 0.6736 0.363371 0.3652 0.6827 Uncertain 12_97150548_G->C 12 97150548 97150548 G C snp 638.77 1/1 48 16 0 16 1.0 intergenic rs34486 CDK17 AU 0.880391 0.9613 Uncertain 12_97150561_A->T 12 97150561 97150561 A T snp 117.77 0/1 99 7 3 4 0.57 intergenic rs34485 CDK17 AU 0.455871 0.3978 Uncertain 12_97150572_G->C 12 97150572 97150572 G C snp 46.78 0/1 27 3 1 2 0.67 intergenic rs34484 CDK17 AU 0.45627 0.3988 Uncertain 12_97151077_C->G 12 97151077 97151077 C G snp 267.77 0/1 54 11 2 9 0.82 intergenic rs1019336 CDK17 AU 0.42472 0.5625 Uncertain 12_97158126_T->C 12 97158126 97158126 T C snp 82.77 0/1 99 20 15 5 0.25 intergenic rs10860094 CDK17 AU 0.424321 0.5655 Uncertain 12_97254620_G->A 12 97254620 97254620 G A snp 3117.77 1/1 99 119 0 119 1.0 intergenic rs1420653 CDK17 AU 0.848842 0.8333 0.7871 0.8182 Uncertain 12_97303683_A->- 12 97303683 97303683 A - indel 100.73 0/1 99 24 13 11 0.46 intronic rs34499067 NEDD1 AU NM_001135176 exon2 c.136+10delA 0.333866 0.4087 0.4481 0.4707 ID=COSM1628948;OCCURENCE=1(liver) Uncertain 12_97314001_A->G 12 97314001 97314001 A G snp 32.77 0/1 61 9 7 2 0.22 intronic rs11830756 NEDD1 AU NM_001135176 exon5 c.10366+98A>G 0.292931 0.4087 Uncertain 12_97339388_G->C 12 97339388 97339388 G C snp 262.77 0/1 94 12 3 9 0.75 intronic rs249589 NEDD1 AU NM_001135176 exon13 c.35933-82G>C 0.908946 0.9673 Uncertain 12_97345955_A->G 12 97345955 97345955 A G snp 577.77 1/1 42 21 0 21 1.0 UTR3 rs2304697 NEDD1 AU 0.897764 0.8294 Uncertain 12_97639049_T->C 12 97639049 97639049 T C snp 6109.77 1/1 99 226 0 226 1.0 intergenic rs1012314 NEDD1 AU 0.845847 0.8938 Uncertain 12_97639144_A->G 12 97639144 97639144 A G snp 7192.77 1/1 99 248 0 248 1.0 intergenic rs1012315 NEDD1 AU 0.583866 0.6587 0.655040 0.6749 0.6730 Uncertain 12_98332667_C->A 12 98332667 98332667 C A snp 492.77 0/1 99 39 20 19 0.49 downstream rs1349300 MIR4495 AU 0.90016 0.8006 Uncertain 12_98332704_C->G 12 98332704 98332704 C G snp 1407.77 0/1 99 103 44 59 0.57 downstream rs1349299 MIR4495 AU 0.899161 0.8006 Uncertain 12_98332905_CA->- 12 98332905 98332906 CA - indel 1197.73 0/1 99 56 25 31 0.55 upstream rs3072891 MIR4495 AU 0.899161 0.8006 0.6667 . Uncertain 12_98389341_A->T 12 98389341 98389341 A T snp 74.77 0/1 99 7 4 3 0.43 upstream rs1477006 MIR4303 AU 0.767971 0.6786 Uncertain 12_98880902_A->- 12 98880902 98880902 A - indel 687.73 1/1 66 41 2 39 0.95 ncRNA_exonic rs36109874 LOC643770 AU 0.785942 0.9504 0.4936 0.6310 Uncertain 12_98896176_T->G 12 98896176 98896176 T G snp 332.78 1/1 27 9 0 9 1.0 ncRNA_intronic rs61563500 LOC643770 AU 0.324681 0.5456 Uncertain 12_98938908_T->- 12 98938908 98938908 T - indel 45.73 0/1 83 26 13 13 0.5 intergenic TMPO AU Uncertain 12_98985056_T->C 12 98985056 98985056 T C snp 411.77 0/1 99 42 26 16 0.38 intergenic rs934930 TMPO AU 0.447284 0.5 Uncertain 12_99007356_T->C 12 99007356 99007356 T C snp 757.77 0/1 99 61 29 32 0.52 UTR3 rs1048908 IKBIP AU 0.414337 0.3502 0.409449 0.3527 0.3535 Uncertain 12_99007623_C->T 12 99007623 99007623 C T snp 2205.77 0/1 99 189 96 93 0.49 exonic rs1048906 IKBIP AU nonsynonymous SNV NM_201612 exon3 c.G793A p.G265S 0.390575 0.3492 0.376711 0.3415 0.3491 1 T 0.000 P -0.909 T 0.0 T 0.001 T Pathogenic 12_99038549_G->A 12 99038549 99038549 G A snp 1402.77 0/1 99 103 43 60 0.58 UTR5 rs2289315 IKBIP AU 0.052516 0.1667 Uncertain 12_99061275_T->C 12 99061275 99061275 T C snp 2196.77 0/1 99 153 64 89 0.58 intronic rs34873465 APAF1 AU NM_001160 exon10 c.19153-15T>C 0.117212 0.2262 0.069583 0.1166 0.2528 Uncertain 12_99109423_A->C 12 99109423 99109423 A C snp 466.77 0/1 99 35 18 17 0.49 intronic rs2288713 APAF1 AU NM_001160 exon21 c.67193+93A>C 0.117412 0.2262 Uncertain 12_99129541_G->T 12 99129541 99129541 G T snp 365.77 1/1 30 10 0 10 1.0 intronic rs7300187 ANKS1B AU NM_001204081 exon1 c.75+129G>T 1 1 Uncertain 12_99166805_G->T 12 99166805 99166805 G T snp 1246.77 1/1 93 51 0 51 1.0 intronic rs2287574 ANKS1B AU NM_001204081 exon3 c.37482-14G>T 0.359824 0.3333 0.415584 0.4012 0.3411 Uncertain 12_99447139_C->A 12 99447139 99447139 C A snp 1148.77 1/1 84 40 0 40 1.0 intronic rs3794799 ANKS1B AU NM_152788 exon10 c.317750+52C>A 0.490415 0.6806 0.503764 Uncertain 12_99478626_C->T 12 99478626 99478626 C T snp 4292.77 1/1 99 153 0 153 1.0 intronic rs3803094 ANKS1B AU NM_152788 exon11 c.349365-76C>T 0.547125 0.7391 Uncertain 12_99478889_G->A 12 99478889 99478889 G A snp 428.77 1/1 33 14 0 14 1.0 intronic rs7970088 ANKS1B AU NM_152788 exon11 c.349464+88G>A 0.999601 1 Uncertain 12_99639930_G->C 12 99639930 99639930 G C snp 568.77 0/1 99 41 17 24 0.59 intronic rs923724 ANKS1B AU NM_152788 exon14 c.510715-122G>C 0.523562 0.6111 Uncertain 12_99640428_T->C 12 99640428 99640428 T C snp 4685.77 1/1 99 160 0 160 1.0 exonic rs3751323 ANKS1B AU synonymous SNV NM_152788 exon13 c.A1971G p.S657S 0.548323 0.7937 0.396847 0.4807 0.7926 Uncertain 12_99640557_T->C 12 99640557 99640557 T C snp 4071.77 1/1 99 149 0 149 1.0 exonic rs1552759 ANKS1B AU synonymous SNV NM_152788 exon13 c.A1842G p.P614P 0.632188 0.9087 0.564770 0.6622 0.8979 Uncertain 12_100041852_G->A 12 100041852 100041852 G A snp 174.77 0/1 99 15 8 7 0.47 UTR5 rs11109967 FAM71C AU 0.266573 0.4296 Uncertain 12_100048839_T->A 12 100048839 100048839 T A snp 1552.77 0/1 99 144 76 68 0.47 splicing rs11109976 ANKS1B AU NM_152788 exon18 c.919507-5T>A 0.242013 0.4365 0.081229 0.1640 0.4571 Pathogenic 12_100049083_C->T 12 100049083 100049083 C T snp 34.77 0/1 63 5 3 2 0.4 intronic rs11109978 ANKS1B AU NM_152788 exon18 c.919651+95C>T 0.256589 0.4365 Uncertain 12_100169519_A->G 12 100169519 100169519 A G snp 179.77 0/1 99 16 7 9 0.56 intronic rs10778023 ANKS1B AU NM_152788 exon20 c.1040102+80A>G 0.530551 0.6022 Uncertain 12_100433407_A->C 12 100433407 100433407 A C snp 1501.77 0/1 99 141 72 69 0.49 exonic rs148804891 UHRF1BP1L AU nonsynonymous SNV NM_015054 exon20 c.T4242G p.F1414L 0.00239617 0.0119 0.000077 0.0009 0.0122 0.11 T 0.834 D -0.945 T 0.0 T 0.0 T ID=COSM1581889;OCCURENCE=1(haematopoietic_and_lymphoid_tissue) Pathogenic 12_100478157_CACA->- 12 100478157 100478160 CACA - indel 1209.73 ./1 99 34 0 34 1.0 intronic rs398020822 UHRF1BP1L AU NM_015054 exon12 c.46840-96_46840-93delCACA 0.794728 0.7857 Uncertain 12_100478157_CA->- 12 100478157 100478158 CA - indel 1209.73 ./1 99 34 0 34 1.0 intronic rs59176559 UHRF1BP1L AU NM_015054 exon12 c.46840-96_46840-95delCA Uncertain 12_100480212_A->T 12 100480212 100480212 A T snp 230.77 0/1 99 16 8 8 0.5 intronic rs140257664 UHRF1BP1L AU NM_015054 exon13 c.48723+76A>T 0.0145767 0.0685 Uncertain 12_100502076_TAAG->- 12 100502076 100502079 TAAG - indel 615.73 0/1 99 18 8 10 0.56 intronic UHRF1BP1L AU NM_015054 exon20 c.70750-87_70750-84delTAAG Uncertain 12_100774620_G->A 12 100774620 100774620 G A snp 1272.77 0/1 99 121 69 52 0.43 exonic rs762001520 SLC17A8 AD nonsynonymous SNV NM_139319 exon2 c.G243A p.M81I 1.647e-05 0.0002 0.01 T 1.000 D -0.777 T 0.338 T 0.281 T Pathogenic 12_100795794_A->G 12 100795794 100795794 A G snp 119.77 0/1 99 8 4 4 0.5 intronic rs11110366 SLC17A8 AD NM_001145288 exon6 c.44472+153A>G 0.383786 0.1677 Uncertain 12_100806411_-->A 12 100806411 100806411 - A indel 75.73 0/1 90 9 4 5 0.56 intronic rs138819500 SLC17A8 AD NM_001145288 exon9 c.55378-136insA 0.111222 0.121 Uncertain 12_100806503_C->T 12 100806503 100806503 C T snp 1475.77 0/1 99 117 57 60 0.51 intronic rs11568536 SLC17A8 AD NM_001145288 exon9 c.55378-44C>T 0.336462 0.1538 0.405582 0.4191 0.1761 Uncertain 12_100811727_C->T 12 100811727 100811727 C T snp 1343.77 0/1 99 101 50 51 0.5 intronic rs11110371 SLC17A8 AD NM_001145288 exon10 c.60637-79C>T 0.33766 0.1548 Uncertain 12_100811749_A->C 12 100811749 100811749 A C snp 1590.77 0/1 99 131 66 65 0.5 intronic rs61941805 SLC17A8 AD NM_001145288 exon10 c.60637-57A>C 0.110823 0.119 Uncertain 12_100813487_A->G 12 100813487 100813487 A G snp 297.77 0/1 99 22 11 11 0.5 intronic rs7967828 SLC17A8 AD NM_001145288 exon11 c.62423-105A>G 0.494808 0.4107 Uncertain 12_100813976_A->C 12 100813976 100813976 A C snp 426.77 0/1 99 25 9 16 0.64 UTR3 rs11568537 SLC17A8 AD 0.376997 0.1498 0.459699 0.4875 0.2072 Uncertain 12_100893636_C->T 12 100893636 100893636 C T snp 1735.77 0/1 99 142 72 70 0.49 intronic rs919213 NR1H4 AR NM_001206979 exon3 c.79+6456C>T 0.128994 0.3175 0.0198 0.4318 Uncertain 12_100930213_C->G 12 100930213 100930213 C G snp 1047.77 0/1 99 113 60 53 0.47 intronic rs17030285 NR1H4 AR NM_001206979 exon7 c.43188-76C>G 0.186901 0.2589 Uncertain 12_100930695_T->A 12 100930695 100930695 T A snp 157.77 0/1 99 17 8 9 0.53 intronic rs7138843 NR1H4 AR NM_001206979 exon8 c.43624-30T>A 0.28774 0.4613 0.144215 0.1239 0.4398 Uncertain 12_101012490_G->A 12 101012490 101012490 G A snp 970.77 1/1 75 30 0 30 1.0 intronic rs7961640 GAS2L3 AU NM_001303130 exon7 c.23683+125G>A 0.633586 0.7857 Uncertain 12_101017445_T->C 12 101017445 101017445 T C snp 3426.77 1/1 99 124 1 123 0.99 exonic rs1469385 GAS2L3 AU synonymous SNV NM_001303130 exon9 c.T862C p.L288L 0.795527 0.9554 0.735276 0.7829 0.9559 Uncertain 12_101111183_G->A 12 101111183 101111183 G A snp 180.77 0/1 99 17 10 7 0.41 intergenic rs12310954 GAS2L3 AU 0.154553 0.2321 Uncertain 12_101133912_G->A 12 101133912 101133912 G A snp 1485.77 1/1 99 45 0 45 1.0 intergenic rs4764751 GAS2L3 AU 0.751997 0.8403 0.6863 0.8299 Uncertain 12_101365007_A->G 12 101365007 101365007 A G snp 456.77 0/1 99 24 10 14 0.58 intronic rs10778090 ANO4 AU NM_178826 exon5 c.69520-76A>G 0.534345 0.6508 Uncertain 12_101433990_A->G 12 101433990 101433990 A G snp 680.77 1/1 51 19 0 19 1.0 intronic rs665071 ANO4 AU NM_178826 exon10 c.138291+136A>G 0.785343 0.8105 Uncertain 12_101473110_C->- 12 101473110 101473110 C - indel 1701.73 0/1 99 164 92 72 0.44 intronic rs34514121 ANO4 AU NM_178826 exon14 c.177490+57delC 0.516973 0.7887 0.396932 Uncertain 12_101473272_G->A 12 101473272 101473272 G A snp 253.77 0/1 90 12 4 8 0.67 intronic rs651784 ANO4 AU NM_178826 exon14 c.177490+219G>A 0.740216 0.8938 Uncertain 12_101510371_T->G 12 101510371 101510371 T G snp 1119.77 0/1 99 70 24 46 0.66 intronic ANO4 AU NM_178826 exon24 c.214893-85T>G 0.734824 0.4504 Uncertain 12_101550961_-->AC 12 101550961 101550961 - AC indel 441.73 0/1 99 26 13 13 0.5 UTR3 SLC5A8 AU Uncertain 12_101551854_T->C 12 101551854 101551854 T C snp 254.77 0/1 99 14 5 9 0.64 intronic SLC5A8 AU NM_145913 exon2 c.970-172T>C 0.21246 0.0913 Uncertain 12_101552075_G->A 12 101552075 101552075 G A snp 1574.77 1/1 99 61 0 61 1.0 exonic SLC5A8 AU synonymous SNV NM_145913 exon14 c.C1662T p.Y554Y 0.752995 0.8115 0.719043 0.6817 0.8209 Uncertain 12_101560328_C->A 12 101560328 101560328 C A snp 1309.77 0/1 99 100 48 52 0.52 exonic SLC5A8 AU nonsynonymous SNV NM_145913 exon12 c.G1470T p.M490I 0.260383 0.5437 0.194449 0.2345 0.5571 0.49 T 0.0 P -0.897 T 0.002 T 0.002 T Pathogenic 12_101561940_A->T 12 101561940 101561940 A T snp 1621.77 0/1 99 157 90 67 0.43 exonic SLC5A8 AU synonymous SNV NM_145913 exon11 c.T1254A p.G418G 0.192891 0.5427 0.111256 0.1942 0.5783 Uncertain 12_101581318_AA->- 12 101581318 101581319 AA - indel 1903.73 0/1 99 102 52 50 0.49 intronic SLC5A8 AU NM_145913 exon9 c.30237+25_30237+26delAA 0.319688 0.5427 0.255112 0.2527 0.5579 Uncertain 12_101584210_T->C 12 101584210 101584210 T C snp 1683.77 0/1 99 123 56 67 0.54 intronic SLC5A8 AU NM_145913 exon10 c.33189-35T>C 0.321286 0.5427 0.257189 0.2517 0.5580 Uncertain 12_101584223_A->C 12 101584223 101584223 A C snp 1447.77 0/1 99 142 77 65 0.46 intronic SLC5A8 AU NM_145913 exon10 c.33189-22A>C 0.181909 0.0893 0.194064 0.1686 0.0870 Uncertain 12_101587518_C->T 12 101587518 101587518 C T snp 1793.77 0/1 99 174 91 83 0.48 exonic SLC5A8 AU nonsynonymous SNV NM_145913 exon5 c.G577A p.V193I 0.279353 0.5437 0.211364 0.2393 0.5573 0.14 T 0.982 P -0.956 T 0.0 T 0.008 T Pathogenic 12_101687043_C->T 12 101687043 101687043 C T snp 1639.77 1/1 99 59 0 59 1.0 intronic rs2290720 UTP20 AU NM_014503 exon11 c.12963+20C>T 0.321086 0.4028 0.315903 0.3709 0.3983 Uncertain 12_101701930_T->C 12 101701930 101701930 T C snp 2478.77 1/1 99 83 0 83 1.0 intronic rs7975348 UTP20 AU NM_014503 exon18 c.27902-32T>C 0.715455 0.9474 0.560741 0.5502 0.9424 Uncertain 12_101705433_-->C 12 101705433 101705433 - C indel 1036.73 1/1 58 35 3 32 0.91 intronic rs11405013 UTP20 AU NM_014503 exon20 c.31436-63insC 0.645367 0.9206 Uncertain 12_101713141_C->T 12 101713141 101713141 C T snp 110.77 0/1 64 6 2 4 0.67 intronic rs2290719 UTP20 AU NM_014503 exon23 c.39262-181C>T 0.330272 0.3998 Uncertain 12_101715202_C->A 12 101715202 101715202 C A snp 472.77 1/1 36 15 0 15 1.0 intronic rs55721648 UTP20 AU NM_014503 exon25 c.41221-79C>A 0.225639 0.374 Uncertain 12_101723363_G->T 12 101723363 101723363 G T snp 96.28 1/1 9 3 0 3 1.0 intronic rs10860709 UTP20 AU NM_014503 exon27 c.49167+136G>T 0.643371 0.9454 Uncertain 12_101728166_A->G 12 101728166 101728166 A G snp 1873.77 1/1 99 62 0 62 1.0 intronic rs2002895 UTP20 AU NM_014503 exon29 c.54142-36A>G 0.602236 0.9187 0.411118 0.4323 0.9163 Uncertain 12_101732655_C->T 12 101732655 101732655 C T snp 1214.77 1/1 87 47 0 47 1.0 exonic rs56265469 UTP20 AU synonymous SNV NM_014503 exon31 c.C3933T p.S1311S 0.256589 0.375 0.218582 0.2487 0.3686 Uncertain 12_101734277_T->C 12 101734277 101734277 T C snp 4009.77 1/1 99 137 0 137 1.0 intronic rs7963896 UTP20 AU NM_014503 exon32 c.60240-23T>C 0.619409 0.9187 0.430878 0.4275 0.9148 Uncertain 12_101734452_C->T 12 101734452 101734452 C T snp 3809.77 1/1 99 136 0 136 1.0 intronic rs7977402 UTP20 AU NM_014503 exon32 c.60328+64C>T 0.582867 0.9177 Uncertain 12_101736381_A->G 12 101736381 101736381 A G snp 1608.77 1/1 99 49 0 49 1.0 intronic rs2270861 UTP20 AU NM_014503 exon33 c.62307+14A>G 0.256589 0.376 0.218736 0.2531 0.3743 Uncertain 12_101750814_T->A 12 101750814 101750814 T A snp 4716.77 1/1 99 170 0 170 1.0 exonic rs10082778 UTP20 AU nonsynonymous SNV NM_014503 exon43 c.T5645A p.L1882Q 0.996605 1 0.991927 0.9917 0.9998 0.78 T 0.002 P -0.961 T 0.0 T 0.0 T Pathogenic 12_101755683_T->C 12 101755683 101755683 T C snp 4274.77 1/1 99 153 1 152 0.99 intronic rs7313312 UTP20 AU NM_014503 exon44 c.81679-56T>C 0.235623 0.375 Uncertain 12_101757530_G->A 12 101757530 101757530 G A snp 2092.77 1/1 99 62 0 62 1.0 intronic rs2305862 UTP20 AU NM_014503 exon45 c.83461+9G>A 0.224441 0.374 0.175842 0.2208 0.3699 Uncertain 12_101761516_T->G 12 101761516 101761516 T G snp 508.77 1/1 39 14 0 14 1.0 intronic rs2305859 UTP20 AU NM_014503 exon48 c.87577-121T>G 0.208866 0.377 Uncertain 12_101761867_G->T 12 101761867 101761867 G T snp 811.77 1/1 60 27 0 27 1.0 intronic rs1457564 UTP20 AU NM_014503 exon48 c.87694+113G>T 0.729832 0.9425 Uncertain 12_101763324_G->A 12 101763324 101763324 G A snp 141.03 1/1 12 4 0 4 1.0 intronic rs17031355 UTP20 AU NM_014503 exon49 c.89438-174G>A 0.224441 0.377 Uncertain 12_101779964_T->C 12 101779964 101779964 T C snp 1238.77 1/1 90 41 0 41 1.0 UTR3 rs4764794 UTP20 AU 0.891773 0.9514 Uncertain 12_101790373_T->C 12 101790373 101790373 T C snp 912.77 1/1 66 30 0 30 1.0 intronic rs73159756 ARL1 AU NM_001301068 exon2 c.938+18T>C 0.213059 0.373 0.163029 0.2191 0.3703 Uncertain 12_101801265_G->C 12 101801265 101801265 G C snp 255.77 0/1 99 13 5 8 0.62 intronic rs140358442 ARL1 AU NM_001301068 exon5 c.12002-154G>C 0.000199681 0.001 Uncertain 12_101871237_T->C 12 101871237 101871237 T C snp 863.77 0/1 99 76 39 37 0.49 upstream rs76202035 SPIC AU 0.0305511 0.0565 Uncertain 12_101880128_A->G 12 101880128 101880128 A G snp 889.77 0/1 99 99 64 35 0.35 exonic rs61748064 SPIC AU unknown 0.0447284 0.0546 0.048439 0.0394 0.0414 0.31 T 0.989 D -1.112 T 0.022 T 0.011 T Uncertain 12_101988774_G->T 12 101988774 101988774 G T snp 1532.77 1/1 99 62 0 62 1.0 UTR5 rs1697477 MYBPC1 AU,AR 0.163738 0.3492 0.130749 Uncertain 12_102008103_T->A 12 102008103 102008103 T A snp 240.8 0/1 21 10 2 8 0.8 intronic rs825079 MYBPC1 AU,AR NM_002465 exon2 c.19425-170T>A 0.511581 0.6706 Uncertain 12_102010815_T->C 12 102010815 102010815 T C snp 54.74 1/1 6 2 0 2 1.0 intronic rs825088 MYBPC1 AU,AR NM_002465 exon3 c.22131-164T>C 0.163938 0.3304 Uncertain 12_102020488_A->T 12 102020488 102020488 A T snp 431.77 1/1 33 12 0 12 1.0 intronic rs825073 MYBPC1 AU,AR NM_002465 exon4 c.31801-161A>T 0.533546 0.6706 Uncertain 12_102020810_G->A 12 102020810 102020810 G A snp 690.77 1/1 51 20 0 20 1.0 intronic rs825074 MYBPC1 AU,AR NM_002465 exon4 c.31840+122G>A 0.170527 0.3294 Uncertain 12_102023405_C->T 12 102023405 102023405 C T snp 336.78 1/1 27 9 0 9 1.0 intronic rs2004898 MYBPC1 AU,AR NM_002465 exon6 c.34474+83C>T 0.273363 0.3006 Uncertain 12_102036305_C->T 12 102036305 102036305 C T snp 5834.77 1/1 99 215 1 214 1.0 exonic rs2293468 MYBPC1 AU,AR synonymous SNV NM_002465 exon11 c.C774T p.D258D 0.294329 0.3879 0.288252 0.3003 0.4014 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000117659.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 12_102041757_A->G 12 102041757 102041757 A G snp 3639.77 1/1 99 133 0 133 1.0 intronic rs17031746 MYBPC1 AU,AR NM_002465 exon14 c.52974-65A>G 0.292732 0.3006 Uncertain 12_102041967_-->A 12 102041967 102041967 - A indel 1964.73 1/1 99 75 0 75 1.0 intronic rs3834936 MYBPC1 AU,AR NM_002465 exon14 c.53080+39insA 0.644369 0.6617 0.626538 0.5757 0.6384 Uncertain 12_102044912_C->T 12 102044912 102044912 C T snp 1563.77 1/1 99 48 0 48 1.0 intronic rs825046 MYBPC1 AU,AR NM_002465 exon16 c.56160-96C>T 0.3748 0.3056 Uncertain 12_102045163_C->G 12 102045163 102045163 C G snp 3814.77 1/1 99 128 0 128 1.0 exonic rs3817552 MYBPC1 AU,AR nonsynonymous SNV NM_002465 exon16 c.C1518G p.H506Q 0.171126 0.2986 0.141781 0.1571 0.2944 0 D 1.000 P -1.044 T 1.0 D 0.999 D CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000117654.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 ID=CM065330;DIS=Colorectal cancer, increased risk, association with;TAG=DP;PUB=17000706 DP Pathogenic 12_102046595_T->C 12 102046595 102046595 T C snp 4067.77 1/1 99 138 0 138 1.0 intronic rs1997204 MYBPC1 AU,AR NM_002465 exon17 c.57714+33T>C 0.921326 0.995 0.903737 0.9387 0.9950 Uncertain 12_102060708_T->C 12 102060708 102060708 T C snp 224.84 1/1 18 6 0 6 1.0 intronic rs7308000 MYBPC1 AU,AR NM_206820 exon21 c.71727+133T>C 0.743011 0.873 Uncertain 12_102061794_TTAATGCT->- 12 102061794 102061801 TTAATGCT - indel 910.74 1/1 27 12 0 12 1.0 intronic rs147564199 MYBPC1 AU,AR NM_002465 exon23 c.72829+117_72829+124delTTAATGCT 0.773762 0.9921 Uncertain 12_102063718_G->A 12 102063718 102063718 G A snp 139.03 1/1 12 4 0 4 1.0 intronic rs10860765 MYBPC1 AU,AR NM_002465 exon24 c.75250-380G>A 0.785144 0.9931 0.6369 0.75 Uncertain 12_102064118_T->C 12 102064118 102064118 T C snp 6708.77 1/1 99 249 0 249 1.0 exonic rs7139095 MYBPC1 AU,AR synonymous SNV NM_002465 exon24 c.T2544C p.I848I 0.964457 0.997 0.949946 0.9542 0.9998 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000117656.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 12_102069264_G->C 12 102069264 102069264 G C snp 638.77 1/1 48 21 0 21 1.0 intronic rs1263786 MYBPC1 AU,AR NM_002465 exon26 c.80361+55G>C 0.347843 0.5685 Uncertain 12_102071290_T->G 12 102071290 102071290 T G snp 803.77 1/1 60 26 0 26 1.0 intronic rs1263784 MYBPC1 AU,AR NM_002465 exon27 c.82324+118T>G 0.199281 0.2946 Uncertain 12_102079418_G->A 12 102079418 102079418 G A snp 4154.77 1/1 99 156 0 156 1.0 UTR3 rs2764 MYBPC1 AU,AR 0.570088 0.6478 0.6293 0.67 Uncertain 12_102108345_T->C 12 102108345 102108345 T C snp 4038.77 1/1 99 164 2 162 0.99 exonic rs3205421 CHPT1 AU nonsynonymous SNV NM_020244 exon3 c.T485C p.F162S 0.227037 0.3433 0.228971 0.2759 0.3421 0.05 T 1.000 P -0.986 T 0.999 D 0.993 D Pathogenic 12_102110335_T->C 12 102110335 102110335 T C snp 435.77 1/1 33 14 0 14 1.0 intronic rs2041150 CHPT1 AU NM_020244 exon4 c.18866-170T>C 0.587859 0.7262 Uncertain 12_102111173_G->C 12 102111173 102111173 G C snp 3681.77 1/1 99 134 0 134 1.0 intronic rs1544921 CHPT1 AU NM_020244 exon4 c.18951+583G>C 0.692692 0.8958 Uncertain 12_102116792_G->A 12 102116792 102116792 G A snp 174.9 1/1 15 5 0 5 1.0 intronic rs3764973 CHPT1 AU NM_020244 exon6 c.25306-153G>A 0.408746 0.4296 Uncertain 12_102117589_C->T 12 102117589 102117589 C T snp 741.77 1/1 54 29 0 29 1.0 exonic rs11082 CHPT1 AU synonymous SNV NM_020244 exon7 c.C1029T p.N343N 0.698882 0.8879 0.605769 0.5980 0.8979 Uncertain 12_102120289_C->A 12 102120289 102120289 C A snp 1450.77 1/1 99 48 0 48 1.0 intronic rs7965541 CHPT1 AU NM_020244 exon8 c.28543+107C>A 0.392173 0.4286 Uncertain 12_102120364_A->G 12 102120364 102120364 A G snp 272.8 1/1 21 10 0 10 1.0 intronic rs222508 CHPT1 AU NM_020244 exon8 c.28543+182A>G 0.992013 1 Uncertain 12_102127262_C->A 12 102127262 102127262 C A snp 1530.77 1/1 99 56 0 56 1.0 intronic rs10860779 SYCP3 AD NM_153694 exon4 c.4648-90C>A 0.305711 0.4167 Uncertain 12_102131091_AA->- 12 102131091 102131092 AA - indel 360.73 ./1 99 32 3 29 0.91 intronic rs549802575 SYCP3 AD NM_153694 exon7 c.8372+15_8372+16delAA 0.0954473 0.0813 0.2711 0.2940 Uncertain 12_102131091_A->- 12 102131091 102131091 A - indel 360.73 ./1 99 32 3 29 0.91 intronic rs11306325 SYCP3 AD NM_153694 exon7 c.8372+15delA 0.482228 0.4901 0.4590 0.4560 Uncertain 12_102133411_T->C 12 102133411 102133411 T C snp 50.74 1/1 6 2 0 2 1.0 upstream rs9308314 SYCP3 AD 0.69988 0.8889 Uncertain 12_102150878_G->C 12 102150878 102150878 G C snp 96.28 1/1 9 3 0 3 1.0 intronic rs3736475 GNPTAB AR NM_024312 exon4 c.10048-111G>C 0.690495 0.8968 Uncertain 12_102151113_A->G 12 102151113 102151113 A G snp 435.77 1/1 33 16 0 16 1.0 intronic rs3736476 GNPTAB AR NM_024312 exon4 c.10147+25A>G 0.307508 0.4167 0.293032 0.3221 0.4150 Uncertain 12_102154900_A->G 12 102154900 102154900 A G snp 2972.77 1/1 99 95 0 95 1.0 splicing rs759935 GNPTAB AR NM_024312 exon7 c.13963-4A>G 0.690495 0.8968 0.596725 0.6015 0.9021 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000082191.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 12_102158763_T->C 12 102158763 102158763 T C snp 6218.77 1/1 99 220 0 220 1.0 exonic rs10778148 GNPTAB AR synonymous SNV NM_024312 exon13 c.A1932G p.T644T 0.651358 0.8978 0.562510 0.5885 0.9014 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000082189.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 12_102182181_G->A 12 102182181 102182181 G A snp 474.77 1/1 36 13 0 13 1.0 intronic rs2108694 GNPTAB AR NM_024312 exon18 c.41384-144G>A 0.684305 0.9177 Uncertain 12_102182229_AC->- 12 102182229 102182230 AC - indel 1791.73 1/1 99 37 0 37 1.0 intronic rs112751979 GNPTAB AR NM_024312 exon18 c.41384-96_41384-95delAC 0.334864 0.4385 Uncertain 12_102224492_GCC->- 12 102224492 102224494 GCC - indel 1474.73 1/1 90 53 0 53 1.0 UTR5 rs76300806 GNPTAB AR 0.702276 0.8323 0.549709 0.4186 0.6613 Uncertain 12_102295218_T->C 12 102295218 102295218 T C snp 3118.77 1/1 99 111 0 111 1.0 intronic rs7295569 DRAM1 AU NM_018370 exon3 c.23644+7T>C 0.742612 0.9167 0.517537 0.6195 0.9206 Uncertain 12_102295219_C->T 12 102295219 102295219 C T snp 1429.77 0/1 99 110 52 58 0.53 intronic rs11111078 DRAM1 AU NM_018370 exon3 c.23644+8C>T 0.347644 0.3938 0.012296 0.3354 0.3833 Uncertain 12_102308190_G->A 12 102308190 102308190 G A snp 1915.77 0/1 99 137 59 78 0.57 intronic rs6539020 DRAM1 AU NM_018370 exon5 c.36443+180G>A 0.0782748 0.1935 Uncertain 12_102433811_T->C 12 102433811 102433811 T C snp 2111.77 1/1 99 80 0 80 1.0 intronic rs4237982 CCDC53 AU NM_016053 exon3 c.26871+55T>C 0.933107 0.996 Uncertain 12_102455729_G->A 12 102455729 102455729 G A snp 6368.77 1/1 99 233 0 233 1.0 exonic rs3751129 CCDC53 AU synonymous SNV NM_001301107 exon1 c.C12T p.D4D 0.280351 0.4276 0.245773 0.3173 0.4944 Uncertain 12_102470434_C->T 12 102470434 102470434 C T snp 465.77 1/1 39 19 0 19 1.0 intronic rs78471714 NUP37 AU NM_024057 exon3 c.2443-140C>T 0.0988419 0.2996 Uncertain 12_102472760_C->G 12 102472760 102472760 C G snp 593.77 1/1 45 16 0 16 1.0 intronic rs10507140 NUP37 AU NM_024057 exon4 c.3150+1479C>G 0.0970447 0.3026 Uncertain 12_102506044_T->C 12 102506044 102506044 T C snp 2737.77 1/1 99 88 0 88 1.0 intronic rs2271266 NUP37 AU NM_024057 exon8 c.37879+34T>C 0.0970447 0.3026 0.010535 0.0611 0.2996 Uncertain 12_102514144_A->C 12 102514144 102514144 A C snp 141.77 0/1 99 11 6 5 0.45 intronic PARPBP AU Uncertain 12_102514184_A->G 12 102514184 102514184 A G snp 688.85 1/1 17 26 1 25 0.96 intronic rs4764863 PARPBP AU 0.568091 0.6161 Uncertain 12_102517699_T->C 12 102517699 102517699 T C snp 1441.77 0/1 99 146 80 66 0.45 exonic rs77973991 PARPBP AU synonymous SNV NM_017915 exon2 c.T33C p.D11D 0.0866613 0.2708 0.0334 0.2677 Uncertain 12_102517804_G->A 12 102517804 102517804 G A snp 5622.77 1/1 99 200 0 200 1.0 exonic rs2036771 PARPBP AU synonymous SNV NM_017915 exon2 c.G138A p.A46A 0.286342 0.4187 0.2180 0.3889 Uncertain 12_102541977_T->- 12 102541977 102541977 T - indel 418.27 1/1 1 27 4 23 0.85 intronic rs76358859 PARPBP AU NM_017915 exon3 c.24341-30delT 0.3977 0.4741 Uncertain 12_102545563_A->G 12 102545563 102545563 A G snp 1773.77 1/1 99 63 0 63 1.0 intronic rs55772007 PARPBP AU NM_017915 exon4 c.29980-2083A>G 0.288738 0.4196 0.2114 0.375 Uncertain 12_102548700_G->T 12 102548700 102548700 G T snp 971.77 1/1 72 34 0 34 1.0 intronic rs2102476 PARPBP AU NM_017915 exon4 c.30088+946G>T 0.314896 0.4187 Uncertain 12_102558544_G->C 12 102558544 102558544 G C snp 377.77 1/1 30 10 0 10 1.0 intronic rs937954 PARPBP AU NM_017915 exon5 c.40720+158G>C 0.289137 0.4196 Uncertain 12_102559708_A->C 12 102559708 102559708 A C snp 464.77 1/1 36 14 0 14 1.0 intronic rs3794201 PARPBP AU NM_017915 exon6 c.41995+47A>C 0.25619 0.4196 0.220669 0.2471 0.4327 Uncertain 12_102576307_-->T 12 102576307 102576307 - T indel 475.73 1/1 45 30 1 29 0.97 intronic rs35297380 PARPBP AU NM_017915 exon9 c.58660-19insT 0.2948 0.3388 Uncertain 12_102589079_TC->- 12 102589079 102589080 TC - indel 2453.73 1/1 99 48 0 48 1.0 intronic rs77048834 PARPBP AU NM_017915 exon10 c.71423-10_71423-9delTC 0.102236 0.3026 0.019734 0.0634 0.2979 Uncertain 12_102595547_T->A 12 102595547 102595547 T A snp 56.74 1/1 6 2 0 2 1.0 intergenic rs10860844 PMCH AU 0.345847 0.4196 Uncertain 12_102813632_C->T 12 102813632 102813632 C T snp 188.77 0/1 99 14 7 7 0.5 intronic rs2072592 IGF1 AR NM_000618 exon2 c.17184+164C>T 0.0874601 0.2669 Uncertain 12_102872155_-->T 12 102872155 102872155 - T indel 135.77 1/1 21 7 0 7 1.0 intronic rs397804756 IGF1 AR NM_001111284 exon4 c.75980-109insT 0.774361 0.8889 Uncertain 12_103234479_A->G 12 103234479 103234479 A G snp 983.77 1/1 72 26 0 26 1.0 intronic rs798709 PAH AR NM_000277 exon2 c.1341+186A>G 0.905551 0.8492 Uncertain 12_103237468_G->C 12 103237468 103237468 G C snp 2261.77 1/1 99 84 0 84 1.0 exonic rs772897 PAH AR synonymous SNV NM_000277 exon11 c.C1155G p.L385L 0.840256 0.8433 0.827157 0.8582 0.8414 CLINSIG=untested,non-pathogenic;CLNDBN=not_provided,not_specified;CLNREVSTAT=no_assertion_provided,no_assertion_criteria_provided;CLNACC=RCV000088769.1,RCV000153631.2;CLNDSDB=MedGen,MedGen;CLNDSDBID=CN221809,CN169374 Uncertain 12_103237909_T->A 12 103237909 103237909 T A snp 44.74 1/1 6 2 0 2 1.0 intronic rs10860929 PAH AR NM_000277 exon4 c.5161-204T>A 0.330471 0.7659 Uncertain 12_103238017_C->T 12 103238017 103238017 C T snp 3861.77 1/1 99 136 0 136 1.0 intronic rs12580432 PAH AR NM_000277 exon4 c.5161-96C>T 0.330471 0.7659 CLINSIG=untested;CLNDBN=not_provided;CLNREVSTAT=no_assertion_provided;CLNACC=RCV000088738.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Uncertain 12_103246700_C->T 12 103246700 103246700 C T snp 4099.77 1/1 99 155 0 155 1.0 exonic rs1042503 PAH AR synonymous SNV NM_000277 exon7 c.G735A p.V245V 0.314896 0.7629 0.181532 0.2906 0.7541 CLINSIG=non-pathogenic|untested;CLNDBN=not_specified|not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter|no_assertion_provided;CLNACC=RCV000078529.3|RCV000089066.1;CLNDSDB=MedGen|MedGen;CLNDSDBID=CN169374|CN221809 Uncertain 12_103260273_T->G 12 103260273 103260273 T G snp 922.77 1/1 69 25 0 25 1.0 intronic rs10860933 PAH AR NM_000277 exon9 c.27421-100T>G 0.302716 0.7609 Uncertain 12_103271350_G->A 12 103271350 103271350 G A snp 3498.77 1/1 99 132 1 131 0.99 intronic rs2037639 PAH AR NM_000277 exon10 c.38376+22G>A 0.316494 0.7004 0.196755 0.2761 0.7108 CLINSIG=untested;CLNDBN=not_provided;CLNREVSTAT=no_assertion_provided;CLNACC=RCV000088901.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Uncertain 12_103558235_G->A 12 103558235 103558235 G A snp 1083.77 0/1 99 118 65 53 0.45 ncRNA_intronic rs11111476 LOC101929058 AU 0.153155 0.3442 0.1308 0.3060 Uncertain 12_103561786_-->TA 12 103561786 103561786 - TA indel 730.73 0/1 99 41 24 17 0.41 ncRNA_intronic rs3061447 LOC101929058 AU 0.298123 0.5337 0.2228 0.5076 Uncertain 12_103561974_CCAATCCAT->- 12 103561974 103561982 CCAATCCAT - indel 7565.73 0/1 99 177 93 84 0.47 ncRNA_exonic rs145528404 LOC101929058 AU 0.23742 0.504 Uncertain 12_103670917_A->G 12 103670917 103670917 A G snp 1555.77 0/1 99 147 67 80 0.54 intergenic rs12311525 LOC101929058 AU 0.441094 0.504 0.3746 0.5109 Uncertain 12_103696182_T->G 12 103696182 103696182 T G snp 1802.77 0/1 99 202 111 91 0.45 exonic rs79387839 C12orf42 AU nonsynonymous SNV NM_001099336 exon6 c.A787C p.S263R 0.126198 0.1319 0.130011 0.1497 0.1550 0.14 T 0.0 P -1.071 T 0.005 T 0.005 T Pathogenic 12_103699685_C->T 12 103699685 103699685 C T snp 961.77 0/1 99 98 55 43 0.44 intronic rs7488867 C12orf42 AU NM_001278420 exon2 c.3866-66C>T 0.388978 0.2996 Uncertain 12_103761909_C->T 12 103761909 103761909 C T snp 636.77 0/1 99 54 27 27 0.5 intronic rs12426345 C12orf42 AU NM_001278420 exon3 c.65999+25C>T 0.0547125 0.2123 0.0217 0.2652 Uncertain 12_103795292_T->C 12 103795292 103795292 T C snp 1732.77 0/1 99 142 71 71 0.5 intronic rs78426170 C12orf42 AU NM_001278420 exon5 c.99499-92T>C 0.0549121 0.1994 Uncertain 12_103800129_A->G 12 103800129 103800129 A G snp 1858.77 0/1 99 167 87 80 0.48 intronic rs1317390 C12orf42 AU NM_001278420 exon5 c.99568+4676A>G 0.256589 0.3413 Uncertain 12_103800290_T->C 12 103800290 103800290 T C snp 360.77 0/1 44 13 2 11 0.85 intronic rs1317389 C12orf42 AU NM_001278420 exon5 c.99568+4837T>C 0.256589 0.3413 Uncertain 12_103810859_TAAAT->- 12 103810859 103810863 TAAAT - indel 401.73 0/1 99 15 9 6 0.4 intronic rs58908250 C12orf42 AU NM_001278420 exon5 c.99568+15406_99568+15410delTAAAT 0.0549121 0.1994 Uncertain 12_103872172_T->G 12 103872172 103872172 T G snp 676.77 0/1 99 78 42 36 0.46 exonic rs10778257 C12orf42 AU nonsynonymous SNV NM_001099336 exon2 c.A33C p.E11D 0.579802 0.6458 0.5310 0.17 T 0.0 P -0.985 T 0.215 T 0.072 T Pathogenic 12_103872281_T->A 12 103872281 103872281 T A snp 511.77 0/1 99 22 5 17 0.77 intronic rs12306102 C12orf42 AU NM_001278420 exon6 c.176340+56T>A 0.272564 0.3452 Uncertain 12_103988385_A->T 12 103988385 103988385 A T snp 504.77 0/1 99 39 15 24 0.62 intronic rs17034187 STAB2 AU NM_017564 exon3 c.7034+97A>T 0.181909 0.2282 Uncertain 12_104014403_AC->- 12 104014403 104014404 AC - indel 183.73 0/1 37 13 2 11 0.85 intronic STAB2 AU NM_017564 exon4 c.33077+72_33077+73delAC 0.21845 0.245 Uncertain 12_104015999_T->C 12 104015999 104015999 T C snp 554.77 0/1 99 48 26 22 0.46 intronic rs703612 STAB2 AU NM_017564 exon5 c.34635+110T>C 0.899561 0.8075 Uncertain 12_104042736_T->C 12 104042736 104042736 T C snp 276.77 0/1 99 20 11 9 0.45 intronic rs697199 STAB2 AU NM_017564 exon10 c.61347+135T>C 0.600839 0.5198 Uncertain 12_104046601_A->G 12 104046601 104046601 A G snp 643.77 0/1 99 43 18 25 0.58 intronic rs1032450 STAB2 AU NM_017564 exon12 c.65229+118A>G 0.228435 0.3323 Uncertain 12_104054434_C->T 12 104054434 104054434 C T snp 1344.77 0/1 99 145 89 56 0.39 intronic rs831427 STAB2 AU NM_017564 exon17 c.73206-26C>T 0.144768 0.3115 0.130478 0.1487 0.3334 Uncertain 12_104064698_C->T 12 104064698 104064698 C T snp 120.77 0/1 60 6 2 4 0.67 intronic rs703639 STAB2 AU NM_017564 exon22 c.83331+113C>T 0.129792 0.1994 Uncertain 12_104067812_C->T 12 104067812 104067812 C T snp 1888.77 0/1 99 145 67 78 0.54 exonic rs11614418 STAB2 AU synonymous SNV NM_017564 exon23 c.C2499T p.Y833Y 0.421725 0.5278 0.349454 0.3969 0.5140 Uncertain 12_104067897_G->A 12 104067897 104067897 G A snp 1168.77 0/1 99 88 40 48 0.55 intronic rs703644 STAB2 AU NM_017564 exon23 c.86611+32G>A 0.13758 0.2063 0.128095 0.1532 0.2329 Uncertain 12_104071159_TCTC->- 12 104071159 104071162 TCTC - indel 1493.73 0/1 99 46 21 25 0.54 intronic rs57083831 STAB2 AU NM_017564 exon25 c.89976-71_89976-68delTCTC 0.323682 0.3988 Uncertain 12_104081793_A->G 12 104081793 104081793 A G snp 1051.77 0/1 99 61 26 35 0.57 intronic rs697206 STAB2 AU NM_017564 exon28 c.100691-152A>G 0.47504 0.5585 Uncertain 12_104086631_C->T 12 104086631 104086631 C T snp 1244.77 0/1 99 109 53 56 0.51 exonic rs703651 STAB2 AU synonymous SNV NM_017564 exon31 c.C3339T p.N1113N 0.467851 0.5585 0.443334 0.4474 0.5323 Uncertain 12_104086736_-->T 12 104086736 104086736 - T indel 476.73 0/1 99 49 16 33 0.67 intronic rs11440653 STAB2 AU NM_017564 exon31 c.105413+69insT 0.202077 0.249 Uncertain 12_104092996_T->C 12 104092996 104092996 T C snp 1011.77 0/1 99 99 54 45 0.45 exonic rs697210 STAB2 AU synonymous SNV NM_017564 exon34 c.T3705C p.H1235H 0.353834 0.37 0.328848 0.3122 0.4037 Uncertain 12_104093064_A->G 12 104093064 104093064 A G snp 1286.77 0/1 99 110 56 54 0.49 intronic STAB2 AU NM_017564 exon34 c.111751+59A>G Uncertain 12_104100617_C->T 12 104100617 104100617 C T snp 6420.77 1/1 99 248 2 246 0.99 exonic rs697212 STAB2 AU synonymous SNV NM_017564 exon38 c.C4044T p.C1348C 0.430911 0.747 0.391819 0.4835 0.7217 Uncertain 12_104111687_C->A 12 104111687 104111687 C A snp 1102.77 1/1 81 35 0 35 1.0 intronic rs703653 STAB2 AU NM_017564 exon44 c.130365+68C>A 0.99401 1 Uncertain 12_104124061_A->G 12 104124061 104124061 A G snp 2020.77 1/1 99 78 1 77 0.99 intronic rs4981042 STAB2 AU NM_017564 exon49 c.142780+27A>G 0.864018 0.9752 0.768491 0.7653 0.9831 Uncertain 12_104133031_A->G 12 104133031 104133031 A G snp 43.77 0/1 66 4 2 2 0.5 intronic rs191971228 STAB2 AU NM_017564 exon54 c.151935-158A>G 0.00279553 0.0139 Uncertain 12_104138918_C->T 12 104138918 104138918 C T snp 797.77 0/1 99 75 37 38 0.51 intronic rs2292687 STAB2 AU NM_017564 exon57 c.157696-32C>T 0.350439 0.7351 0.200677 0.3311 0.7291 Uncertain 12_104140517_A->G 12 104140517 104140517 A G snp 333.77 0/1 99 26 14 12 0.46 intronic rs2056128 STAB2 AU NM_017564 exon58 c.159228+35A>G 0.730032 0.7569 0.635245 0.6336 0.7453 Uncertain 12_104146964_C->A 12 104146964 104146964 C A snp 1409.77 0/1 99 146 83 63 0.43 intronic rs35756765 STAB2 AU NM_017564 exon61 c.165743-33C>A 0.136781 0.1161 0.214132 0.1927 0.1370 Uncertain 12_104147171_G->A 12 104147171 104147171 G A snp 1041.77 0/1 99 86 48 38 0.44 intronic rs3751200 STAB2 AU NM_017564 exon61 c.165877+40G>A 0.136382 0.1171 0.214747 0.1928 0.1389 Uncertain 12_104147207_A->G 12 104147207 104147207 A G snp 722.77 0/1 99 30 9 21 0.7 intronic rs3751198 STAB2 AU NM_017564 exon61 c.165877+76A>G 0.658147 0.6518 Uncertain 12_104149022_G->A 12 104149022 104149022 G A snp 8048.77 1/1 99 250 2 248 0.99 intronic rs11111748 STAB2 AU NM_017564 exon62 c.167825-57G>A 0.974042 1 Uncertain 12_104149251_C->T 12 104149251 104149251 C T snp 7367.77 1/1 99 250 0 250 1.0 splicing rs7296626 STAB2 AU NM_017564 exon62 c.167991+6C>T 0.977037 1 0.955021 0.9572 0.9999 Pathogenic 12_104153004_C->G 12 104153004 104153004 C G snp 1657.77 0/1 99 136 66 70 0.51 exonic rs2271637 STAB2 AU nonsynonymous SNV NM_017564 exon65 c.C7201G p.L2401V 0.32528 0.5238 0.226203 0.2906 0.4838 0.26 T 0.904 P -1.058 T 0.898 T 0.472 P Pathogenic 12_104157502_G->A 12 104157502 104157502 G A snp 320.77 0/1 99 38 25 13 0.34 intronic rs3751196 STAB2 AU NM_017564 exon68 c.176132+116G>A 0.173922 0.4276 Uncertain 12_104159667_G->A 12 104159667 104159667 G A snp 102.77 0/1 99 10 6 4 0.4 intronic rs11111755 STAB2 AU NM_017564 exon69 c.178809-396G>A 0.415535 0.626 Uncertain 12_104159716_C->A 12 104159716 104159716 C A snp 342.77 0/1 99 32 17 15 0.47 intronic rs10861094 STAB2 AU NM_017564 exon69 c.178809-347C>A 0.415935 0.627 Uncertain 12_104159936_C->T 12 104159936 104159936 C T snp 1843.77 0/1 99 164 84 80 0.49 intronic rs114592175 STAB2 AU NM_017564 exon69 c.178809-127C>T 0.0603035 0.1597 0.0667 0.3212 0 D 1 N -1.024 T Uncertain 12_104171742_C->T 12 104171742 104171742 C T snp 1730.77 0/1 99 173 94 79 0.46 exonic rs17034524 NT5DC3 AU synonymous SNV NM_001031701 exon14 c.G1512A p.L504L 0.224441 0.4375 0.143934 0.2211 0.4592 Uncertain 12_104171949_A->T 12 104171949 104171949 A T snp 221.77 0/1 99 34 23 11 0.32 intronic rs200236248 NT5DC3 AU NM_001031701 exon1 c.253+90A>T 0.0477236 0.1538 Uncertain 12_104182458_T->C 12 104182458 104182458 T C snp 957.77 0/1 99 65 29 36 0.55 intronic rs2888792 NT5DC3 AU NM_001031701 exon5 c.11009-157T>C 0.527756 0.8929 Uncertain 12_104182836_T->C 12 104182836 104182836 T C snp 48.74 1/1 6 2 0 2 1.0 intronic rs9739384 NT5DC3 AU NM_001031701 exon5 c.11091+139T>C 0.901558 0.9167 Uncertain 12_104186946_G->T 12 104186946 104186946 G T snp 1253.77 0/1 99 96 46 50 0.52 exonic rs1866295 NT5DC3 AU synonymous SNV NM_001031701 exon9 c.C1015A p.R339R 0.409545 0.6319 0.250500 0.3137 0.6166 Uncertain 12_104187092_G->A 12 104187092 104187092 G A snp 3127.77 0/1 99 250 128 122 0.49 intronic rs1866296 NT5DC3 AU NM_001031701 exon6 c.15437+49G>A 0.521366 0.8958 0.322697 0.4391 0.8753 Uncertain 12_104187440_C->T 12 104187440 104187440 C T snp 167.77 0/1 99 19 12 7 0.37 intronic rs11111781 NT5DC3 AU NM_001031701 exon7 c.15684+150C>T 0.521366 0.8958 Uncertain 12_104187929_C->T 12 104187929 104187929 C T snp 73.78 0/1 24 4 1 3 0.75 intronic rs73192048 NT5DC3 AU NM_001031701 exon8 c.16169+154C>T 0.589457 0.9008 Uncertain 12_104190523_G->A 12 104190523 104190523 G A snp 327.77 0/1 99 24 11 13 0.54 intronic rs12425205 NT5DC3 AU NM_001031701 exon9 c.19065-148G>A 0.857628 0.9147 Uncertain 12_104190855_A->G 12 104190855 104190855 A G snp 211.77 0/1 99 16 8 8 0.5 intronic rs73192053 NT5DC3 AU NM_001031701 exon9 c.19203+46A>G 0.409545 0.6339 0.229048 0.3119 0.6141 Uncertain 12_104208868_C->T 12 104208868 104208868 C T snp 531.77 0/1 99 56 35 21 0.38 exonic rs10861107 NT5DC3 AU synonymous SNV NM_001031701 exon2 c.G240A p.L80L 0.122005 0.0833 0.188605 0.1732 0.1071 Uncertain 12_104235229_C->G 12 104235229 104235229 C G snp 1787.77 1/1 99 70 0 70 1.0 upstream rs34187551 NT5DC3 AU 0.376198 0.5675 0.3554 0.6136 Uncertain 12_104235308_C->G 12 104235308 104235308 C G snp 3555.77 1/1 99 132 0 132 1.0 upstream rs116314589 NT5DC3 AU 0.135583 0.1815 0.1306 0.2015 0 D -1.016 T Uncertain 12_104237512_T->C 12 104237512 104237512 T C snp 254.8 1/1 21 7 0 7 1.0 downstream rs1370784 GNN AU 0.355831 0.5665 Uncertain 12_104237829_T->G 12 104237829 104237829 T G snp 4484.77 1/1 99 158 0 158 1.0 ncRNA_exonic rs1370780 GNN AU 0.354832 0.5665 Uncertain 12_104254753_G->A 12 104254753 104254753 G A snp 829.77 1/1 60 27 0 27 1.0 ncRNA_intronic rs11111816 GNN AU 0.45627 0.8204 Uncertain 12_104254932_G->A 12 104254932 104254932 G A snp 3108.77 1/1 99 119 0 119 1.0 ncRNA_exonic rs11111817 GNN AU 0.45607 0.8204 0.4231 0.8469 Uncertain 12_104309428_G->C 12 104309428 104309428 G C snp 5520.77 1/1 99 193 0 193 1.0 ncRNA_exonic rs7295489 GNN AU 0.113618 0.1756 0.1133 0.2121 Uncertain 12_104324148_G->A 12 104324148 104324148 G A snp 886.77 1/1 66 29 0 29 1.0 UTR5 rs2722187 HSP90B1 AU 0.914936 0.997 Uncertain 12_104324182_C->G 12 104324182 104324182 C G snp 1480.77 1/1 99 52 0 52 1.0 UTR5 rs2070908 HSP90B1 AU 0.447484 0.5397 0.5127 0.6224 Uncertain 12_104325459_G->C 12 104325459 104325459 G C snp 6868.77 1/1 99 250 0 250 1.0 intronic rs17034931 HSP90B1 AU NM_003299 exon2 c.1108+58G>C 0.11222 0.1746 0.1182 0.2465 Uncertain 12_104325649_T->G 12 104325649 104325649 T G snp 798.77 1/1 60 23 0 23 1.0 intronic rs2722188 HSP90B1 AU NM_003299 exon2 c.1108+248T>G 0.771965 0.8581 Uncertain 12_104335751_AA->- 12 104335751 104335752 AA - indel 3712.73 1/1 99 83 0 83 1.0 intronic rs397814070 HSP90B1 AU NM_003299 exon11 c.11382+76_11382+77delAA 0.926318 0.996 Uncertain 12_104337667_G->A 12 104337667 104337667 G A snp 2598.77 1/1 99 102 0 102 1.0 intronic rs1882019 HSP90B1 AU NM_003299 exon14 c.13359+15G>A 0.119808 0.3254 0.073197 0.1155 0.3030 Uncertain 12_104341188_GAA->- 12 104341188 104341190 GAA - indel 6586.73 1/1 99 142 0 142 1.0 exonic rs201427769 HSP90B1 AU nonframeshift deletion NM_003299 exon17 c.2362_2364del p.788_788del 0.119808 0.3254 0.106070 0.1120 0.2996 Uncertain 12_104348482_A->G 12 104348482 104348482 A G snp 48.74 1/1 6 2 0 2 1.0 intronic rs2700507 C12orf73 AU NM_001135570 exon2 c.5108-1926A>G 0.927516 0.996 Uncertain 12_104359931_T->A 12 104359931 104359931 T A snp 1009.77 1/1 75 43 0 43 1.0 intronic rs4135039 TDG AU NM_003211 exon1 c.23+93T>A 0.820887 0.994 Uncertain 12_104359982_C->A 12 104359982 104359982 C A snp 348.78 1/1 27 12 0 12 1.0 intronic rs4135040 TDG AU NM_003211 exon1 c.23+144C>A 0.820887 0.994 Uncertain 12_104366815_G->A 12 104366815 104366815 G A snp 3623.77 1/1 99 144 0 144 1.0 intronic rs17035056 TDG AU NM_003211 exon2 c.10880-3880G>A 0.076278 0.3056 0.0192 0.3030 Uncertain 12_104370850_A->G 12 104370850 104370850 A G snp 2548.77 1/1 99 93 0 93 1.0 intronic rs3829300 TDG AU NM_003211 exon2 c.11023+12A>G 0.120008 0.3234 0.073120 0.1114 0.2967 Uncertain 12_104373368_T->C 12 104373368 104373368 T C snp 90.28 1/1 9 3 0 3 1.0 intronic rs4135092 TDG AU NM_003211 exon3 c.13793-240T>C 0.226038 0.4653 Uncertain 12_104373462_T->C 12 104373462 104373462 T C snp 949.77 1/1 69 33 0 33 1.0 intronic rs4135094 TDG AU NM_003211 exon3 c.13793-146T>C 0.124002 0.3423 Uncertain 12_104380734_G->A 12 104380734 104380734 G A snp 2385.77 1/1 94 102 3 99 0.97 exonic rs2888805 TDG AU nonsynonymous SNV NM_003211 exon10 c.G1099A p.V367M 0.11242 0.2927 0.071736 0.1081 0.2828 0.11 T 0.0 P -1.006 T 0.833 T 0.125 P Pathogenic 12_104387138_G->A 12 104387138 104387138 G A snp 1283.77 1/1 90 53 0 53 1.0 intronic rs79806135 GLT8D2 AU NM_031302 exon2 c.3984-31G>A 0.120807 0.3234 0.073351 0.1242 0.3188 Uncertain 12_104393305_C->- 12 104393305 104393305 C - indel 883.73 1/1 66 23 0 23 1.0 intronic rs3215372 GLT8D2 AU NM_031302 exon6 c.10107+13delC 0.120208 0.3244 0.074760 0.1114 0.2949 Uncertain 12_104413436_C->T 12 104413436 104413436 C T snp 1997.77 1/1 99 69 0 69 1.0 UTR5 rs11553765 GLT8D2 AU 0.120008 0.3095 0.075350 0.1215 0.2972 Uncertain 12_104520054_T->C 12 104520054 104520054 T C snp 1388.77 1/1 99 52 0 52 1.0 intronic rs12426862 NFYB AU NM_006166 exon5 c.6508+32T>C 0.090655 0.1369 0.071781 0.1447 0.1705 Uncertain 12_104522120_G->A 12 104522120 104522120 G A snp 180.9 1/1 15 5 0 5 1.0 intronic rs10507175 NFYB AU NM_006166 exon6 c.8687-81G>A 0.115615 0.1409 Uncertain 12_104707180_A->T 12 104707180 104707180 A T snp 661.77 1/1 48 24 0 24 1.0 intronic rs6539137 TXNRD1 AU NM_182729 exon4 c.1992+85A>T 0.955871 1 Uncertain 12_104985289_A->G 12 104985289 104985289 A G snp 690.77 1/1 51 20 0 20 1.0 intronic rs1615960 CHST11 AU NM_001173982 exon2 c.144494-10394A>G 0.886581 0.998 Uncertain 12_104985655_C->T 12 104985655 104985655 C T snp 491.77 1/1 39 15 0 15 1.0 intronic rs313323 CHST11 AU NM_001173982 exon2 c.144494-10028C>T 0.886581 0.998 Uncertain 12_104985695_A->G 12 104985695 104985695 A G snp 96.28 1/1 9 3 0 3 1.0 intronic rs313322 CHST11 AU NM_001173982 exon2 c.144494-9988A>G 0.852436 0.9127 Uncertain 12_104995459_T->C 12 104995459 104995459 T C snp 54.74 1/1 6 2 0 2 1.0 intronic rs3812796 CHST11 AU NM_001173982 exon2 c.144494-224T>C 0.758187 0.9067 Uncertain 12_104995800_-->T 12 104995800 104995800 - T indel 1177.73 1/1 99 70 1 69 0.99 intronic rs397759847 CHST11 AU NM_001173982 exon2 c.144580+31insT 0.605032 0.6518 0.629473 0.5729 0.6358 Uncertain 12_105260160_ACACAC->- 12 105260160 105260165 ACACAC - indel 705.73 0/1 99 21 11 10 0.48 intronic rs149586274 SLC41A2 AU NM_032148 exon5 c.61280-49_61280-44delACACAC 0.4165 0.2902 Uncertain 12_105260366_A->- 12 105260366 105260366 A - indel 75.73 0/1 34 23 4 19 0.83 intronic rs34984157 SLC41A2 AU NM_032148 exon5 c.61428+9delA 0.320487 0.2292 0.4169 0.3066 Uncertain 12_105279931_C->A 12 105279931 105279931 C A snp 158.78 0/1 24 7 1 6 0.86 intronic rs17829927 SLC41A2 AU NM_032148 exon6 c.81141-139C>A 0.379193 0.2351 Uncertain 12_105280195_G->A 12 105280195 105280195 G A snp 2438.77 0/1 99 199 96 103 0.52 exonic rs188834253 SLC41A2 AU synonymous SNV NM_032148 exon5 c.C903T p.I301I 0.000399361 0.002 0.0003 0.0042 Uncertain 12_105431835_T->G 12 105431835 105431835 T G snp 1561.77 0/1 99 110 52 58 0.53 intronic rs10861315 ALDH1L2 AU NM_001034173 exon6 c.13679-45T>G 0.310903 0.2619 0.317853 0.3738 0.2675 Uncertain 12_105432040_A->T 12 105432040 105432040 A T snp 673.77 0/1 99 49 20 29 0.59 intronic rs11112328 ALDH1L2 AU NM_001034173 exon6 c.13779+60A>T 0.284545 0.2391 Uncertain 12_105432065_C->A 12 105432065 105432065 C A snp 141.77 0/1 99 26 17 9 0.35 intronic ALDH1L2 AU NM_001034173 exon6 c.13779+85C>A Uncertain 12_105433463_C->T 12 105433463 105433463 C T snp 1971.77 0/1 99 164 87 77 0.47 intronic rs4964120 ALDH1L2 AU NM_001034173 exon7 c.15289-27C>T 0.304912 0.2619 0.310395 0.3664 0.2614 Uncertain 12_105433523_T->A 12 105433523 105433523 T A snp 2877.77 0/1 99 250 137 113 0.45 exonic rs4964317 ALDH1L2 AU synonymous SNV NM_001034173 exon17 c.A2013T p.G671G 0.310503 0.2619 0.318084 0.3681 0.2621 Uncertain 12_105433607_G->A 12 105433607 105433607 G A snp 2659.77 0/1 99 234 122 112 0.48 intronic rs4964318 ALDH1L2 AU NM_001034173 exon7 c.15383+23G>A 0.656749 0.7619 0.585345 0.5709 0.7663 Uncertain 12_105433702_A->T 12 105433702 105433702 A T snp 461.77 0/1 99 32 17 15 0.47 intronic rs7315784 ALDH1L2 AU NM_001034173 exon7 c.15383+118A>T 0.310503 0.2619 Uncertain 12_105434467_C->T 12 105434467 105434467 C T snp 2012.77 0/1 99 166 75 91 0.55 exonic rs11112330 ALDH1L2 AU synonymous SNV NM_001034173 exon16 c.G1869A p.T623T 0.304912 0.2619 0.310395 0.3665 0.2626 Uncertain 12_105434533_C->A 12 105434533 105434533 C A snp 1695.77 0/1 99 129 61 68 0.53 intronic rs10861316 ALDH1L2 AU NM_001034173 exon8 c.16271+61C>A 0.302915 0.2619 Uncertain 12_105440421_T->G 12 105440421 105440421 T G snp 528.77 0/1 99 33 13 20 0.61 intronic rs10861324 ALDH1L2 AU NM_001034173 exon9 c.22286-66T>G 0.397165 0.4861 Uncertain 12_105440719_C->T 12 105440719 105440719 C T snp 862.77 0/1 99 81 45 36 0.44 exonic rs75238381 ALDH1L2 AU nonsynonymous SNV NM_001034173 exon14 c.G1715A p.R572H 0.0091853 0.0437 0.000308 0.0031 0.0387 0.03 T 1 D -0.584 T 0.764 T 0.248 P Pathogenic 12_105443966_T->C 12 105443966 105443966 T C snp 347.77 0/1 99 26 14 12 0.46 intronic rs7485673 ALDH1L2 AU NM_001034173 exon11 c.25635+130T>C 0.238419 0.2619 Uncertain 12_105455651_A->G 12 105455651 105455651 A G snp 486.77 1/1 36 17 0 17 1.0 intronic rs6539183 ALDH1L2 AU NM_001034173 exon16 c.37329+121A>G 0.917332 0.9306 Uncertain 12_105477951_C->T 12 105477951 105477951 C T snp 261.8 1/1 21 8 0 8 1.0 intronic rs11112362 ALDH1L2 AU NM_001034173 exon23 c.59965-215C>T 0.928514 1 Uncertain 12_105478327_C->T 12 105478327 105478327 C T snp 56.74 1/1 6 2 0 2 1.0 UTR5 rs7303961 ALDH1L2 AU 0.924121 1 Uncertain 12_105504764_G->A 12 105504764 105504764 G A snp 576.77 1/1 45 19 0 19 1.0 intronic rs1196839 KIAA1033 AU NM_015275 exon2 c.3324-138G>A 0.934305 1 Uncertain 12_105509160_G->T 12 105509160 105509160 G T snp 56.74 1/1 6 2 0 2 1.0 intronic rs1196801 KIAA1033 AU NM_015275 exon5 c.7429+153G>T 0.934105 1 Uncertain 12_105527385_G->C 12 105527385 105527385 G C snp 385.77 1/1 30 11 0 11 1.0 intronic rs1211276 KIAA1033 AU NM_015275 exon14 c.25969-162G>C 0.935104 1 Uncertain 12_105534025_G->A 12 105534025 105534025 G A snp 2413.77 1/1 99 82 0 82 1.0 intronic rs1196808 KIAA1033 AU NM_015275 exon16 c.32493-46G>A 0.934105 1 0.859725 0.8811 0.9993 Uncertain 12_105534573_A->G 12 105534573 105534573 A G snp 222.84 1/1 18 6 0 6 1.0 intronic rs1014502 KIAA1033 AU NM_015275 exon17 c.33098-103A>G 0.1877 0.2589 Uncertain 12_105541047_T->- 12 105541047 105541047 T - indel 1642.73 1/1 99 67 0 67 1.0 intronic rs3215374 KIAA1033 AU NM_015275 exon24 c.39346+123delT 0.181909 0.2599 Uncertain 12_105541202_TG->- 12 105541202 105541203 TG - indel 614.73 1/1 42 14 0 14 1.0 intronic rs3830657 KIAA1033 AU NM_015275 exon24 c.39346+278_39346+279delTG 0.181709 0.2589 Uncertain 12_105543326_T->G 12 105543326 105543326 T G snp 50.74 1/1 6 3 0 3 1.0 intronic rs1196802 KIAA1033 AU NM_015275 exon25 c.41814-66T>G 0.947883 1 Uncertain 12_105546172_G->A 12 105546172 105546172 G A snp 4906.77 1/1 99 190 0 190 1.0 exonic rs1663564 KIAA1033 AU nonsynonymous SNV NM_015275 exon26 c.G2701A p.V901I 0.978634 1 0.938880 0.9464 1 0.53 T 0.000 P -0.979 T 0.0 T 0.0 T Pathogenic 12_105568122_G->A 12 105568122 105568122 G A snp 3693.77 1/1 99 135 0 135 1.0 exonic rs935241 APPL2 AU synonymous SNV NM_018171 exon21 c.C1965T p.N655N 0.934105 1 0.862217 0.8815 0.9994 Uncertain 12_105568176_G->A 12 105568176 105568176 G A snp 4237.77 1/1 99 163 1 162 0.99 exonic rs935240 APPL2 AU synonymous SNV NM_018171 exon21 c.C1911T p.D637D 0.934105 1 0.862217 0.8815 0.9994 Uncertain 12_105582245_A->G 12 105582245 105582245 A G snp 5784.77 1/1 99 198 0 198 1.0 intronic rs1196852 APPL2 AU NM_018171 exon5 c.14134+20A>G 0.809704 0.999 0.728433 0.7757 0.9987 Uncertain 12_105583877_G->A 12 105583877 105583877 G A snp 3155.77 1/1 99 116 0 116 1.0 exonic rs2272495 APPL2 AU nonsynonymous SNV NM_018171 exon15 c.C1298T p.A433V 0.1873 0.2599 0.2028 0.2534 0.24 T 0.0 P -1.005 T 0.043 T 0.054 T Pathogenic 12_105597680_C->T 12 105597680 105597680 C T snp 980.77 1/1 72 35 0 35 1.0 intronic rs3736628 APPL2 AU NM_018171 exon13 c.29472+117C>T 0.190296 0.2589 Uncertain 12_105600935_G->A 12 105600935 105600935 G A snp 4381.77 1/1 99 168 0 168 1.0 exonic rs2293643 APPL2 AU synonymous SNV NM_018171 exon8 c.C525T p.H175H 0.183506 0.2599 0.160234 0.2027 0.2534 Uncertain 12_105604853_C->T 12 105604853 105604853 C T snp 94.28 1/1 9 3 0 3 1.0 intronic rs1196759 APPL2 AU NM_018171 exon17 c.36916-154C>T 0.998802 1 Uncertain 12_105610717_T->G 12 105610717 105610717 T G snp 99.28 1/1 9 3 0 3 1.0 intronic rs2440691 APPL2 AU NM_018171 exon18 c.42755-129T>G 1 1 Uncertain 12_105611333_T->C 12 105611333 105611333 T C snp 1620.77 1/1 99 57 0 57 1.0 intronic rs4964342 APPL2 AU NM_018171 exon19 c.43352-110T>C 0.190695 0.2619 Uncertain 12_105623073_C->T 12 105623073 105623073 C T snp 2165.77 1/1 99 84 0 84 1.0 intronic rs2293644 APPL2 AU NM_018171 exon20 c.54910+72C>T 0.216254 0.3433 Uncertain 12_105629865_C->G 12 105629865 105629865 C G snp 608.77 1/1 45 22 0 22 1.0 UTR5 rs1196785 APPL2 AU 0.630192 0.5486 Uncertain 12_105759838_C->T 12 105759838 105759838 C T snp 1222.77 1/1 90 35 0 35 1.0 intronic rs1432588 C12orf75 AU NM_001145199 exon3 c.34951+218C>T 0.397364 0.6696 Uncertain 12_105760369_A->G 12 105760369 105760369 A G snp 2762.77 1/1 99 106 2 104 0.98 intronic rs7962661 C12orf75 AU NM_001145199 exon4 c.35725-25A>G 0.445288 0.6696 0.263250 0.3459 0.7042 Uncertain 12_105789562_C->T 12 105789562 105789562 C T snp 1721.77 1/1 99 48 0 48 1.0 intergenic rs1534253 C12orf75 AU 0.56869 0.7133 Uncertain 12_106460938_G->C 12 106460938 106460938 G C snp 1765.77 0/1 99 170 100 70 0.41 exonic rs3741883 NUAK1 AU nonsynonymous SNV NM_014840 exon7 c.C1628G p.P543R 0.221446 0.4177 0.174304 0.2248 0.4208 0.32 T 0.971 P -0.996 T 0.93 T 0.383 D Pathogenic 12_106461760_G->A 12 106461760 106461760 G A snp 810.77 0/1 99 119 77 42 0.35 intronic rs3741884 NUAK1 AU NM_014840 exon1 c.1154+27G>A 0.10603 0.0357 0.129402 0.1606 0.0388 Uncertain 12_106464785_G->C 12 106464785 106464785 G C snp 937.77 1/1 69 34 0 34 1.0 intronic rs4964437 NUAK1 AU NM_014840 exon2 c.4105+101G>C 0.8123 0.9762 Uncertain 12_106480450_A->G 12 106480450 106480450 A G snp 431.77 1/1 33 11 0 11 1.0 intronic rs2251027 NUAK1 AU NM_014840 exon5 c.19932-61A>G 0.409545 0.4405 Uncertain 12_106500159_T->- 12 106500159 106500159 T - indel 1390.73 0/1 99 102 54 48 0.47 intronic rs35769739 NUAK1 AU NM_014840 exon6 c.39603-23delT 0.463458 0.3968 0.560383 0.3974 0.3615 Uncertain 12_106500408_T->C 12 106500408 106500408 T C snp 150.77 0/1 66 8 3 5 0.63 intronic rs1427785 NUAK1 AU NM_014840 exon6 c.39724+105T>C 0.485623 0.4544 Uncertain 12_106532072_C->A 12 106532072 106532072 C A snp 142.77 0/1 99 16 10 6 0.38 intronic rs1215597 NUAK1 AU NM_014840 exon7 c.71612-119C>A 0.376797 0.374 Uncertain 12_106633569_C->T 12 106633569 106633569 C T snp 1268.77 0/1 99 110 55 55 0.5 exonic rs3088113 CKAP4 AU nonsynonymous SNV NM_006825 exon2 c.G1042A p.A348T 0.219249 0.5466 0.2587 0.6503 0.66 T 0.0 P -0.916 T 0.013 T 0.007 T Pathogenic 12_106647783_T->G 12 106647783 106647783 T G snp 1142.77 0/1 99 103 50 53 0.51 intergenic rs2704898 CKAP4 AU 0.701078 0.5933 Uncertain 12_106647842_C->T 12 106647842 106647842 C T snp 1200.77 0/1 99 94 45 49 0.52 intergenic rs12231439 CKAP4 AU 0.256989 0.5506 0.1718 0.5821 Uncertain 12_106820958_T->- 12 106820958 106820958 T - indel 205.74 0/1 0 16 3 13 0.81 intronic rs202125845 POLR3B AR NM_001160708 exon13 c.60527-16delT 0.505591 0.6935 0.4076 0.5448 Uncertain 12_106838340_T->C 12 106838340 106838340 T C snp 5272.77 1/1 99 203 0 203 1.0 exonic rs10861607 POLR3B AR synonymous SNV NM_018082 exon19 c.T2055C p.Y685Y 0.317891 0.6984 0.190989 0.3143 0.7055 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000118025.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 12_106890059_C->T 12 106890059 106890059 C T snp 720.77 1/1 57 26 0 26 1.0 intronic rs721438 POLR3B AR NM_001160708 exon24 c.129489+123C>T 0.627396 0.7351 Uncertain 12_106890135_A->G 12 106890135 106890135 A G snp 227.84 1/1 18 8 0 8 1.0 intronic rs2288270 POLR3B AR NM_001160708 exon24 c.129489+199A>G 0.686302 0.7599 Uncertain 12_106890151_G->A 12 106890151 106890151 G A snp 101.28 1/1 9 4 0 4 1.0 intronic rs2288269 POLR3B AR NM_001160708 exon24 c.129489+215G>A 0.325879 0.6845 Uncertain 12_106893863_G->T 12 106893863 106893863 G T snp 2571.77 1/1 99 97 0 97 1.0 ncRNA_exonic rs7137638 LOC100287944 AU 0.591054 0.7381 0.6175 0.7652 0 D 0.0 P -0.974 T Uncertain 12_106893930_A->T 12 106893930 106893930 A T snp 3554.77 1/1 99 133 0 133 1.0 ncRNA_exonic rs7137444 LOC100287944 AU 0.580871 0.7381 0.6171 0.7576 0 D 0.000 P -0.994 T Uncertain 12_106903321_T->C 12 106903321 106903321 T C snp 2744.77 1/1 99 95 0 95 1.0 exonic rs13561 POLR3B AR synonymous SNV NM_018082 exon28 c.T3396C p.N1132N 0.32488 0.6855 0.211518 0.3241 0.6749 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000118027.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 12_107078448_C->T 12 107078448 107078448 C T snp 300.77 0/1 99 27 14 13 0.48 ncRNA_exonic rs10467029 LOC100505978 AU 0.344848 0.2808 Uncertain 12_107078562_-->AAG 12 107078562 107078562 - AAG indel 5085.73 1/1 99 94 0 94 1.0 ncRNA_intronic rs55667506 LOC100287944 AU 0.676118 0.6627 0.633792 0.6133 0.6617 Uncertain 12_107080639_CC->- 12 107080639 107080640 CC - indel 557.73 0/1 99 37 20 17 0.46 ncRNA_intronic rs55658229 LOC100287944 AU 0.3113 0.3052 Uncertain 12_107083031_G->A 12 107083031 107083031 G A snp 1608.77 0/1 99 115 48 67 0.58 ncRNA_intronic rs9804754 LOC100287944 AU 0.34345 0.2808 0.371444 0.3508 0.3356 Uncertain 12_107083059_C->T 12 107083059 107083059 C T snp 1344.77 0/1 99 154 92 62 0.4 splicing rs7961392 RFX4 AU NM_032491 exon3 c.4473-5C>T 0.267772 0.381 0.197294 0.1976 0.3341 Pathogenic 12_107090201_T->C 12 107090201 107090201 T C snp 2728.77 1/1 99 98 0 98 1.0 exonic rs10778502 RFX4 AU synonymous SNV NM_032491 exon4 c.T528C p.T176T 0.401757 0.2956 0.430263 0.3821 0.3525 Uncertain 12_107114427_A->G 12 107114427 107114427 A G snp 335.77 0/1 99 29 16 13 0.45 ncRNA_intronic rs4625579 LOC100287944 AU 0.182708 0.2312 Uncertain 12_107144328_A->G 12 107144328 107144328 A G snp 666.77 0/1 99 47 18 29 0.62 ncRNA_intronic rs12424114 LOC100287944 AU 0.398562 0.2837 Uncertain 12_107219308_A->G 12 107219308 107219308 A G snp 62.77 0/1 91 12 9 3 0.25 intronic rs1037013 RIC8B AU NM_018157 exon4 c.50980-195A>G 0.450679 0.2867 Uncertain 12_107364873_C->T 12 107364873 107364873 C T snp 2691.77 1/1 99 93 0 93 1.0 intronic rs10778520 TMEM263 AU NM_152261 exon4 c.3988-9C>T 0.406949 0.3581 0.403429 0.4425 0.3937 Uncertain 12_107395106_A->G 12 107395106 107395106 A G snp 3350.77 1/1 99 137 0 137 1.0 exonic rs8192440 CRY1 AU synonymous SNV NM_004075 exon5 c.T636C p.G212G 0.789736 0.9554 0.690835 0.6890 0.9742 Uncertain 12_107395290_T->C 12 107395290 107395290 T C snp 224.84 1/1 18 6 0 6 1.0 intronic rs8192439 CRY1 AU NM_004075 exon9 c.8582+144T>C 0.534145 0.7024 Uncertain 12_107713511_G->C 12 107713511 107713511 G C snp 1684.77 1/1 99 60 0 60 1.0 exonic rs961498 BTBD11 AU nonsynonymous SNV NM_001018072 exon1 c.G794C p.G265A 0.394369 0.4127 0.359256 0.4803 0.4188 0.06 T 1.0 P -0.908 T 0.229 T 0.099 T Pathogenic 12_107713696_G->A 12 107713696 107713696 G A snp 1541.77 1/1 99 47 0 47 1.0 exonic rs111260184 BTBD11 AU nonsynonymous SNV NM_001018072 exon1 c.G979A p.A327T 0.394569 0.4127 0.430665 0.6126 0.5992 0.72 T 1.0 P -0.952 T 0.518 P 0.103 P Pathogenic 12_107714310_-->C 12 107714310 107714310 - C indel 1011.73 1/1 84 28 0 28 1.0 intronic rs11383016 BTBD11 AU NM_001018072 exon1 c.1135+458insC 0.766573 0.7123 Uncertain 12_108003911_T->C 12 108003911 108003911 T C snp 2970.77 1/1 99 102 0 102 1.0 intronic rs4964599 BTBD11 AU NM_001017523 exon3 c.29283-55T>C 0.993211 1 Uncertain 12_108006352_A->C 12 108006352 108006352 A C snp 188.77 0/1 99 12 5 7 0.58 intronic rs60670611 BTBD11 AU NM_001017523 exon4 c.31873-204A>C 0.352236 0.3482 Uncertain 12_108010838_C->T 12 108010838 108010838 C T snp 843.77 0/1 99 93 58 35 0.38 intronic rs141936483 BTBD11 AU NM_001017523 exon6 c.36182-27C>T 0.00479233 0.0228 0.0014 0.0184 Uncertain 12_108086697_T->C 12 108086697 108086697 T C snp 1225.77 0/1 99 101 55 46 0.46 intronic rs2287216 PWP1 AU NM_007062 exon4 c.7000+21T>C 0.222045 0.128 0.297324 0.3369 0.1243 Uncertain 12_108127965_A->G 12 108127965 108127965 A G snp 424.77 0/1 99 40 25 15 0.38 UTR3 rs17306603 PRDM4 AU 0.220447 0.12 0.297017 0.3404 0.1216 Uncertain 12_108136172_A->G 12 108136172 108136172 A G snp 1952.77 0/1 99 129 50 79 0.61 ncRNA_intronic rs2302734 LOC101929162 AU 0.221446 0.12 0.298247 0.3362 0.1201 Uncertain 12_108140032_T->C 12 108140032 108140032 T C snp 1060.77 0/1 99 134 86 48 0.36 ncRNA_intronic rs3803120 LOC101929162 AU 0.221446 0.12 0.297939 0.3360 0.1209 Uncertain 12_108146071_C->T 12 108146071 108146071 C T snp 149.77 0/1 99 9 4 5 0.56 ncRNA_intronic rs7302814 LOC101929162 AU 0.619409 0.6905 Uncertain 12_108147982_C->T 12 108147982 108147982 C T snp 39.77 0/1 68 6 4 2 0.33 ncRNA_intronic rs4964617 LOC101929162 AU 0.215256 0.0903 Uncertain 12_108168846_G->C 12 108168846 108168846 G C snp 155.77 0/1 99 24 18 6 0.25 UTR5 rs75704747 ASCL4 AU 0.0267572 0.0794 Uncertain 12_108600237_A->G 12 108600237 108600237 A G snp 2101.77 1/1 99 75 0 75 1.0 intronic rs1106752 WSCD2 AU NM_014653 exon3 c.10571+57A>G 0.580871 0.6042 Uncertain 12_108618291_G->A 12 108618291 108618291 G A snp 112.78 0/1 27 5 1 4 0.8 intronic rs41314109 WSCD2 AU NM_014653 exon5 c.28906-224G>A 0.00399361 0.0188 Uncertain 12_108618630_C->T 12 108618630 108618630 C T snp 5647.77 1/1 99 206 1 205 1.0 exonic rs3764002 WSCD2 AU nonsynonymous SNV NM_014653 exon5 c.C797T p.T266I 0.256989 0.5476 0.189644 0.2696 0.5377 0.21 T 1.000 P -0.899 T 0.999 D 0.997 D Pathogenic 12_108913378_T->- 12 108913378 108913378 T - indel 136.73 0/1 53 9 2 7 0.78 UTR3 rs397755685 FICD AU Uncertain 12_108917520_-->A 12 108917520 108917520 - A indel 309.73 1/1 39 20 0 20 1.0 intronic rs34982944 SART3 AU NM_014706 exon1 c.178+109insA 0.622404 0.6915 Uncertain 12_108918146_C->T 12 108918146 108918146 C T snp 1582.77 1/1 99 57 0 57 1.0 exonic rs2303633 SART3 AU synonymous SNV NM_014706 exon18 c.G2661A p.P887P 0.808107 0.9355 0.778564 0.8312 0.9266 Uncertain 12_108918431_C->T 12 108918431 108918431 C T snp 263.8 1/1 21 8 0 8 1.0 intronic rs7307731 SART3 AU NM_014706 exon2 c.1050+148C>T 0.838858 0.9375 Uncertain 12_108923950_A->G 12 108923950 108923950 A G snp 5359.77 1/1 99 211 0 211 1.0 exonic rs1549096 SART3 AU synonymous SNV NM_014706 exon15 c.T1884C p.D628D 0.808506 0.9365 0.778256 0.8311 0.9264 Uncertain 12_108929450_C->T 12 108929450 108929450 C T snp 224.84 1/1 18 6 0 6 1.0 intronic rs7301731 SART3 AU NM_014706 exon8 c.12011+206C>T 0.749201 0.9355 Uncertain 12_108931779_C->A 12 108931779 108931779 C A snp 1446.77 0/1 99 92 38 54 0.59 intronic rs2287550 SART3 AU NM_014706 exon12 c.14607-61C>A 0.284145 0.4663 Uncertain 12_108932053_C->T 12 108932053 108932053 C T snp 990.77 1/1 72 28 0 28 1.0 intronic rs2287551 SART3 AU NM_014706 exon12 c.14746+74C>T 0.749601 0.9355 Uncertain 12_108932100_G->A 12 108932100 108932100 G A snp 99.28 1/1 9 3 0 3 1.0 intronic rs7978765 SART3 AU NM_014706 exon12 c.14746+121G>A 0.749601 0.9355 Uncertain 12_108932916_C->T 12 108932916 108932916 C T snp 2017.77 1/1 99 68 0 68 1.0 intronic rs7133076 SART3 AU NM_014706 exon13 c.15632+51C>T 0.749601 0.9355 0.723624 0.8165 0.9267 Uncertain 12_108936428_T->C 12 108936428 108936428 T C snp 88.77 0/1 30 5 1 4 0.8 intronic rs11113982 SART3 AU NM_014706 exon14 c.19570-375T>C 0.283946 0.4653 Uncertain 12_108936484_G->A 12 108936484 108936484 G A snp 149.77 0/1 99 14 8 6 0.43 intronic rs888555 SART3 AU NM_014706 exon14 c.19570-319G>A 0.2502 0.3819 Uncertain 12_108936516_T->G 12 108936516 108936516 T G snp 772.77 1/1 57 23 0 23 1.0 intronic rs888556 SART3 AU NM_014706 exon14 c.19570-287T>G 0.75 0.9355 Uncertain 12_108936519_C->T 12 108936519 108936519 C T snp 778.77 1/1 57 25 0 25 1.0 intronic rs888557 SART3 AU NM_014706 exon14 c.19570-284C>T 0.75 0.9355 Uncertain 12_108941679_G->A 12 108941679 108941679 G A snp 1343.77 0/1 99 105 47 58 0.55 exonic rs12579216 SART3 AU synonymous SNV NM_014706 exon3 c.C528T p.A176A 0.103035 0.1419 0.082654 0.1070 0.1074 Uncertain 12_108942771_T->- 12 108942771 108942771 T - indel 926.73 0/1 99 62 32 30 0.48 intronic rs147236609 SART3 AU NM_014706 exon18 c.25630-92delT 0.0834665 0.127 Uncertain 12_108942775_C->G 12 108942775 108942775 C G snp 708.77 0/1 99 64 34 30 0.47 intronic rs3214424 SART3 AU NM_014706 exon18 c.25630-88C>G 0.0850639 0.1349 Uncertain 12_108943028_G->A 12 108943028 108943028 G A snp 2557.77 1/1 99 93 0 93 1.0 intronic rs2052423 SART3 AU NM_014706 exon18 c.25757+38G>A 0.808307 0.9355 0.778333 0.8312 0.9263 Uncertain 12_108954502_G->A 12 108954502 108954502 G A snp 1303.77 1/1 96 45 1 44 0.98 intronic rs1160332 SART3 AU NM_014706 exon19 c.37385-116G>A 0.749601 0.9355 0.8206 0.9338 Uncertain 12_108954823_C->T 12 108954823 108954823 C T snp 6050.77 1/1 99 226 0 226 1.0 exonic rs1063936 SART3 AU synonymous SNV NM_014706 exon1 c.G108A p.R36R 0.749601 0.9355 0.723282 0.8152 0.9259 0.12 T 0.000 P -1.061 T Likely benign 12_108954862_G->C 12 108954862 108954862 G C snp 1742.77 0/1 99 222 140 82 0.37 exonic rs2072579 SART3 AU nonsynonymous SNV NM_014706 exon1 c.C69G p.D23E 0.250399 0.3819 0.178456 0.2234 0.3260 1 T 0.000 P -0.950 T 0.002 T 0.009 T Pathogenic 12_108956417_T->G 12 108956417 108956417 T G snp 3311.77 1/1 99 121 0 121 1.0 exonic rs10778647 ISCU AR nonsynonymous SNV NM_213595 exon1 c.T19G p.F7V 0.89397 0.9544 0.8678 0.9220 0.5 T 1.000 P -0.988 T 0.0 T 0.0 T Pathogenic 12_108956418_T->G 12 108956418 108956418 T G snp 3316.77 1/1 99 121 0 121 1.0 exonic rs10778648 ISCU AR nonsynonymous SNV NM_213595 exon1 c.T20G p.F7C 0.89397 0.9544 0.8677 0.9214 0.18 T 1.000 P -0.994 T 0.006 T 0.002 T Pathogenic 12_108956433_C->T 12 108956433 108956433 C T snp 1816.77 0/1 99 152 67 85 0.56 exonic rs2287555 ISCU AR nonsynonymous SNV NM_213595 exon1 c.C35T p.A12V 0.507588 0.5546 0.625408 0.5960 0.5742 0.23 T 1.0 P -0.975 T 0.999 D 0.972 D Pathogenic 12_108956526_-->G 12 108956526 108956526 - G indel 8343.73 1/1 99 228 0 228 1.0 intronic rs60547936 ISCU AR NM_001301140 exon1 c.114+14insG 0.9998 1 0.998683 1.0000 1 Uncertain 12_108956610_C->G 12 108956610 108956610 C G snp 2662.77 1/1 99 90 0 90 1.0 intronic rs2287556 ISCU AR NM_001301140 exon1 c.114+98C>G 0.749401 0.9355 Uncertain 12_108960906_G->T 12 108960906 108960906 G T snp 393.77 1/1 30 10 0 10 1.0 intronic rs10861945 ISCU AR NM_014301 exon5 c.3073-59G>T 0.749201 0.9355 0.727332 Uncertain 12_108961228_A->G 12 108961228 108961228 A G snp 1726.77 0/1 99 98 37 61 0.62 intronic rs876161 ISCU AR NM_014301 exon5 c.3152+184A>G 0.103235 0.1429 Uncertain 12_108961293_C->T 12 108961293 108961293 C T snp 1306.77 1/1 99 39 0 39 1.0 intronic rs888546 ISCU AR NM_001301140 exon5 c.5035-140C>T 0.749201 0.9355 Uncertain 12_108961354_T->C 12 108961354 108961354 T C snp 1891.77 1/1 99 59 0 59 1.0 intronic rs888547 ISCU AR NM_001301140 exon5 c.5035-79T>C 0.749201 0.9355 Uncertain 12_108961383_A->G 12 108961383 108961383 A G snp 2287.77 1/1 99 74 0 74 1.0 intronic rs888548 ISCU AR NM_001301140 exon5 c.5035-50A>G 0.749201 0.9355 Uncertain 12_108962398_C->G 12 108962398 108962398 C G snp 50.74 1/1 6 2 0 2 1.0 intronic rs888549 ISCU AR NM_014301 exon6 c.4714-208C>G 0.748403 0.9355 Uncertain 12_108985945_A->G 12 108985945 108985945 A G snp 3836.77 1/1 99 144 0 144 1.0 exonic rs7975237 TMEM119 AU nonsynonymous SNV NM_181724 exon2 c.T215C p.I72T 0.655551 0.8532 0.541596 0.5270 0.8471 1 T 0.000 P -0.962 T 0.0 T 0.0 T Pathogenic 12_108986031_C->T 12 108986031 108986031 C T snp 859.77 0/1 99 55 24 31 0.56 exonic rs74504010 TMEM119 AU synonymous SNV NM_181724 exon2 c.G129A p.E43E 0.166134 0.3145 0.120505 0.1926 0.3838 Uncertain 12_108986112_G->C 12 108986112 108986112 G C snp 570.77 0/1 99 33 13 20 0.61 exonic rs10861953 TMEM119 AU synonymous SNV NM_181724 exon2 c.C48G p.L16L 0.196885 0.256 0.153651 0.2348 0.2457 Uncertain 12_109017651_GAGTGGTCTGTGCCTCCGTGGGCACTGGTT->- 12 109017651 109017680 GAGTGGTCTGTGCCTCCGTGGGCACTGGTT - indel 11740.7 0/1 99 149 73 76 0.51 exonic rs372173288 SELPLG AU nonframeshift deletion NM_003006 exon2 c.404_433del p.135_145del 0.111422 0.13 0.153539 0.1719 0.3484 ID=COSM1358533,COSM1358534;OCCURENCE=10(large_intestine) Uncertain 12_109025432_T->C 12 109025432 109025432 T C snp 541.77 1/1 42 14 0 14 1.0 intronic rs8179115 SELPLG AU NM_001206609 exon2 c.8790-202T>C 0.861022 0.994 Uncertain 12_109050968_C->T 12 109050968 109050968 C T snp 1336.77 1/1 96 53 0 53 1.0 intronic rs74939224 CORO1C AU NM_014325 exon6 c.9901-111C>T 0.091254 0.3016 Uncertain 12_109182049_T->C 12 109182049 109182049 T C snp 5323.77 1/1 99 189 0 189 1.0 exonic rs3741778 SSH1 AU synonymous SNV NM_018984 exon15 c.A2865G p.T955T 0.508586 0.6359 0.421190 0.3877 0.6651 Uncertain 12_109201326_T->C 12 109201326 109201326 T C snp 613.77 1/1 45 20 0 20 1.0 intronic rs1549087 SSH1 AU NM_018984 exon8 c.19645-82T>C 0.163538 0.3095 Uncertain 12_109211031_T->C 12 109211031 109211031 T C snp 1692.77 1/1 99 59 0 59 1.0 intronic rs12316621 SSH1 AU NM_018984 exon11 c.29172+96T>C 0.317891 0.379 0.2410 0.4326 Uncertain 12_109219903_C->G 12 109219903 109219903 C G snp 2224.77 1/1 99 82 1 81 0.99 intronic rs6539455 SSH1 AU NM_001161331 exon13 c.35163-1135C>G 0.246605 0.3075 0.1081 0.3881 Uncertain 12_109270506_A->G 12 109270506 109270506 A G snp 2972.77 1/1 99 94 0 94 1.0 intergenic rs7136681 SSH1 AU 0.580072 0.6349 Uncertain 12_109277492_C->A 12 109277492 109277492 C A snp 792.77 0/1 99 67 32 35 0.52 intronic rs11114083 DAO AD 0.249401 0.3204 0.1893 0.3594 Uncertain 12_109278747_T->G 12 109278747 109278747 T G snp 2842.77 0/1 99 241 117 124 0.51 intronic rs2111902 DAO AD 0.487819 0.4831 0.378210 0.3910 0.5028 Uncertain 12_109286576_G->C 12 109286576 109286576 G C snp 227.77 0/1 99 14 7 7 0.5 intronic rs11114087 DAO AD NM_001917 exon6 c.7975-181G>C 0.267572 0.4782 Uncertain 12_109287984_A->G 12 109287984 109287984 A G snp 539.77 0/1 99 30 11 19 0.63 intronic rs3825251 DAO AD NM_001917 exon7 c.9256-54A>G 0.266773 0.4762 Uncertain 12_109293109_-->A 12 109293109 109293109 - A indel 1492.73 0/1 99 149 75 74 0.5 intronic rs11420034 DAO AD NM_001917 exon10 c.14370-43insA 0.386182 0.4514 0.3717 0.4859 Uncertain 12_109293320_A->G 12 109293320 109293320 A G snp 337.77 0/1 99 19 9 10 0.53 intronic rs3918347 DAO AD NM_001917 exon10 c.14469+69A>G 0.41254 0.4702 Uncertain 12_109306627_A->G 12 109306627 109306627 A G snp 227.77 0/1 99 15 7 8 0.53 intronic rs11114094 SVOP AU NM_018711 exon1 c.207+110A>G 0.133187 0.3115 Uncertain 12_109309424_T->C 12 109309424 109309424 T C snp 932.77 0/1 99 97 56 41 0.42 intronic rs4964773 SVOP AU NM_018711 exon2 c.3248-134T>C 0.313299 0.4415 Uncertain 12_109330915_G->A 12 109330915 109330915 G A snp 826.77 0/1 99 56 24 32 0.57 intronic rs10861986 SVOP AU NM_018711 exon7 c.24729-124G>A 0.379792 0.496 Uncertain 12_109331162_C->T 12 109331162 109331162 C T snp 1730.77 0/1 99 154 82 72 0.47 intronic rs3918305 SVOP AU NM_018711 exon7 c.24803+49C>T 0.522764 0.5357 0.460509 0.4403 0.5175 Uncertain 12_109338835_C->T 12 109338835 109338835 C T snp 487.77 0/1 99 30 14 16 0.53 intronic rs36131538 SVOP AU NM_018711 exon10 c.32568-43C>T 0.420327 0.5149 0.468463 0.5680 0.5422 Uncertain 12_109338913_A->G 12 109338913 109338913 A G snp 1363.77 0/1 99 121 63 58 0.48 exonic rs552922952 SVOP AU nonsynonymous SNV NM_018711 exon6 c.T449C p.M150T 0.000199681 0.001 Pathogenic 12_109339023_C->T 12 109339023 109339023 C T snp 1481.77 0/1 99 141 74 67 0.48 intronic rs36191519 SVOP AU NM_018711 exon10 c.32632+81C>T 0.511581 0.5149 Uncertain 12_109354632_T->C 12 109354632 109354632 T C snp 1975.77 1/1 99 61 0 61 1.0 intronic rs36181716 SVOP AU NM_018711 exon11 c.48388-66T>C 0.830471 0.9524 Uncertain 12_109371381_C->A 12 109371381 109371381 C A snp 2293.77 1/1 99 79 1 78 0.99 intronic rs149284306 SVOP AU NM_018711 exon13 c.64962+109C>A 0.698283 0.7946 Uncertain 12_109371442_G->T 12 109371442 109371442 G T snp 1144.77 1/1 84 32 0 32 1.0 intronic rs36182807 SVOP AU NM_018711 exon13 c.64962+170G>T 0.532548 0.627 Uncertain 12_109458569_A->C 12 109458569 109458569 A C snp 35.77 0/1 64 69 51 18 0.26 intronic rs11612998 SVOP AU NM_018711 exon15 c.152327-68A>C Uncertain 12_109490401_C->T 12 109490401 109490401 C T snp 546.77 0/1 99 49 28 21 0.43 ncRNA_exonic rs2304266 USP30-AS1 AU 0.179712 0.1359 Uncertain 12_109490601_C->T 12 109490601 109490601 C T snp 798.77 0/1 99 71 36 35 0.49 ncRNA_intronic rs2304267 USP30-AS1 AU 0.179513 0.1359 0.141715 0.1949 0.1662 Uncertain 12_109494799_C->G 12 109494799 109494799 C G snp 54.74 1/1 6 2 0 2 1.0 intronic rs56212180 USP30 AU NM_001301175 exon5 c.100+203C>G 0.0638978 0.1399 Uncertain 12_109511144_T->C 12 109511144 109511144 T C snp 1082.77 1/1 53 37 1 36 0.97 intronic rs7967182 USP30 AU NM_001301175 exon10 c.16746-98T>C 0.923323 0.9772 Uncertain 12_109511256_T->C 12 109511256 109511256 T C snp 4038.77 1/1 99 147 0 147 1.0 exonic rs7967322 USP30 AU synonymous SNV NM_032663 exon7 c.T639C p.P213P 0.857029 0.9762 0.790251 0.8377 0.9761 Uncertain 12_109520769_A->G 12 109520769 109520769 A G snp 2636.77 0/1 99 250 142 108 0.43 exonic rs16939904 USP30 AU nonsynonymous SNV NM_032663 exon11 c.A1070G p.H357R 0.0634984 0.13 0.060972 0.0704 0.1456 0.45 T 0.372 P -0.990 T 0.0 T 0.0 T Pathogenic 12_109520876_G->A 12 109520876 109520876 G A snp 1372.77 0/1 99 106 59 47 0.44 intronic rs59162254 USP30 AU NM_001301175 exon14 c.26371+9G>A 0.0636981 0.131 0.060818 0.0729 0.1471 Uncertain 12_109522684_A->T 12 109522684 109522684 A T snp 256.77 0/1 99 23 12 11 0.48 intronic rs78073059 USP30 AU NM_001301175 exon15 c.28261-73A>T 0.0623003 0.13 Uncertain 12_109528018_C->A 12 109528018 109528018 C A snp 444.77 0/1 99 60 41 19 0.32 splicing rs76283368 ALKBH2 AU NM_001145375 exon2 c.2002+6C>A 0.0611022 0.13 0.059742 0.0697 0.1455 Pathogenic 12_109530278_-->CA 12 109530278 109530278 - CA indel 4319.73 0/1 99 140 22 118 0.84 intronic rs145676752 ALKBH2 AU NM_001145375 exon3 c.4301-33insCA 0.460844 0.4582 0.4879 Uncertain 12_109536559_A->C 12 109536559 109536559 A C snp 1271.77 1/1 93 38 0 38 1.0 intronic rs3219211 UNG AR NM_003362 exon1 c.312+116A>C 0.226637 0.2976 Uncertain 12_109540613_-->T 12 109540613 109540613 - T indel 1228.73 0/1 99 99 51 48 0.48 intronic rs3219235 UNG AR NM_003362 exon4 c.4512-30insT 0.226238 0.2996 0.183067 0.2094 0.3421 Uncertain 12_109540742_C->T 12 109540742 109540742 C T snp 216.77 0/1 99 35 25 10 0.29 intronic rs201555956 UNG AR NM_003362 exon4 c.4601+10C>T 0.000998403 0.005 0.0006 0.0084 Uncertain 12_109577735_C->T 12 109577735 109577735 C T snp 3249.77 0/1 99 250 116 134 0.54 exonic rs2878960 ACACB AU synonymous SNV NM_001093 exon1 c.C525T p.S175S 0.397764 0.2589 0.545517 0.5578 0.2506 Uncertain 12_109577952_T->C 12 109577952 109577952 T C snp 221.77 0/1 99 45 34 11 0.24 intronic rs4766494 ACACB AU NM_001093 exon1 c.653+89T>C 0.445887 0.619 Uncertain 12_109604499_C->A 12 109604499 109604499 C A snp 65.77 0/1 94 10 7 3 0.3 intronic rs34282 ACACB AU NM_001093 exon2 c.27455-166C>A 0.784145 0.7937 Uncertain 12_109605730_C->T 12 109605730 109605730 C T snp 1520.77 0/1 99 150 83 67 0.45 exonic rs4766516 ACACB AU synonymous SNV NM_001093 exon3 c.C816T p.A272A 0.231629 0.5099 0.157081 0.2280 0.5487 Uncertain 12_109605898_C->T 12 109605898 109605898 C T snp 582.77 0/1 99 55 28 27 0.49 intronic rs34285 ACACB AU NM_001093 exon3 c.28629+59C>T 0.608227 0.7758 Uncertain 12_109609406_C->T 12 109609406 109609406 C T snp 264.77 0/1 99 15 7 8 0.53 intronic rs12825055 ACACB AU NM_001093 exon4 c.32399-203C>T 0.259784 0.5099 Uncertain 12_109609528_T->C 12 109609528 109609528 T C snp 1653.77 0/1 99 176 104 72 0.41 intronic rs12821387 ACACB AU NM_001093 exon4 c.32399-81T>C 0.225639 0.5099 Uncertain 12_109697018_C->G 12 109697018 109697018 C G snp 1651.77 1/1 99 47 0 47 1.0 intronic rs17848840 ACACB AU NM_001093 exon46 c.119703+105C>G 0.0109824 0.0546 Uncertain 12_109701960_A->- 12 109701960 109701960 A - indel 170.73 0/1 99 64 44 20 0.31 intronic rs35795929 ACACB AU NM_001093 exon49 c.124826-76delA 0.48143 0.4861 Uncertain 12_109723077_T->C 12 109723077 109723077 T C snp 265.8 1/1 21 8 0 8 1.0 intronic rs10774643 FOXN4 AU NM_213596 exon3 c.5633-31T>C 0.309105 0.4722 0.1446 0.1813 Uncertain 12_109723079_T->C 12 109723079 109723079 T C snp 375.77 1/1 30 11 0 11 1.0 intronic rs10774644 FOXN4 AU NM_213596 exon3 c.5633-29T>C 0.420727 0.5655 0.1507 0.1603 Uncertain 12_109831344_-->CATCCAACCATTCATCCATCCATCCATC 12 109831344 109831344 - CATCCAACCATTCATCCATCCATCCATC indel 3848.73 0/1 99 86 40 46 0.53 intronic rs71079557 MYO1H AU NM_001101421 exon2 c.4728+93insCATCCAACCATTCATCCATCCATCCATC Uncertain 12_109835590_A->G 12 109835590 109835590 A G snp 2576.77 0/1 99 206 95 111 0.54 exonic rs11611358 MYO1H AU synonymous SNV NM_001101421 exon4 c.A495G p.K165K 0.252396 0.3552 0.238559 0.2928 0.4053 Uncertain 12_109843594_G->A 12 109843594 109843594 G A snp 520.77 0/1 99 38 16 22 0.58 intronic rs9888353 MYO1H AU NM_001101421 exon7 c.17203-132G>A 0.507788 0.3919 Uncertain 12_109844432_A->G 12 109844432 109844432 A G snp 344.77 0/1 99 20 7 13 0.65 intronic rs11066505 MYO1H AU NM_001101421 exon8 c.18070-161A>G 0.508187 0.3919 Uncertain 12_109844702_C->T 12 109844702 109844702 C T snp 326.77 0/1 99 39 25 14 0.36 intronic rs12425103 MYO1H AU NM_001101421 exon8 c.18142+37C>T 0.2498 0.3532 0.231812 0.2887 0.4036 Uncertain 12_109845778_-->ATT 12 109845778 109845778 - ATT indel 4653.73 0/1 99 172 84 88 0.51 intronic rs75978659 MYO1H AU NM_001101421 exon9 c.19195+60insATT 0.508586 0.3929 0.526425 0.4683 0.4377 Uncertain 12_109848567_T->C 12 109848567 109848567 T C snp 1460.77 0/1 99 110 48 62 0.56 exonic rs7315991 MYO1H AU synonymous SNV NM_001101421 exon12 c.T1356C p.S452S 0.545527 0.4544 0.549341 0.5476 0.5488 Uncertain 12_109849535_A->G 12 109849535 109849535 A G snp 536.77 0/1 99 37 16 21 0.57 intronic rs2196612 MYO1H AU NM_001101421 exon13 c.23175-163A>G 0.464257 0.4107 Uncertain 12_109849540_A->G 12 109849540 109849540 A G snp 599.77 0/1 99 42 19 23 0.55 intronic rs7316486 MYO1H AU NM_001101421 exon13 c.23175-158A>G 0.350639 0.4097 Uncertain 12_109849552_-->CT 12 109849552 109849552 - CT indel 1197.73 0/1 99 50 25 25 0.5 intronic rs5800859 MYO1H AU NM_001101421 exon13 c.23175-146insCT 0.464257 0.4097 Uncertain 12_109853306_A->G 12 109853306 109853306 A G snp 513.77 0/1 99 58 34 24 0.41 intronic rs4766598 MYO1H AU NM_001101421 exon14 c.26807-24A>G 0.272564 0.2956 0.246813 0.3421 0.4814 Uncertain 12_109853462_G->A 12 109853462 109853462 G A snp 356.77 0/1 99 40 25 15 0.38 intronic rs4766471 MYO1H AU NM_001101421 exon14 c.26902+37G>A 0.280351 0.2946 0.252591 0.2902 0.4145 Uncertain 12_109863722_TC->- 12 109863722 109863723 TC - indel 1697.73 0/1 99 105 58 47 0.45 intronic rs377569094 MYO1H AU NM_001101421 exon17 c.37227-28_37227-27delTC 0.344449 0.3274 0.335888 0.3532 0.4303 Uncertain 12_109874230_A->G 12 109874230 109874230 A G snp 956.77 0/1 99 79 38 41 0.52 intronic rs2075432 MYO1H AU NM_001101421 exon21 c.47769-62A>G 0.491414 0.371 0.523872 Uncertain 12_109879292_T->C 12 109879292 109879292 T C snp 248.77 0/1 99 16 8 8 0.5 intronic rs11608355 MYO1H AU NM_001101421 exon25 c.52896-127T>C 0.334665 0.3274 Uncertain 12_109881198_C->T 12 109881198 109881198 C T snp 94.28 1/1 9 3 0 3 1.0 intronic rs34585238 MYO1H AU NM_001101421 exon27 c.54795-120C>T 0.335264 0.3274 Uncertain 12_109883254_T->C 12 109883254 109883254 T C snp 385.77 0/1 99 21 8 13 0.62 intronic rs3742020 MYO1H AU NM_001101421 exon30 c.56794-63T>C 0.336462 0.3274 Uncertain 12_109883374_T->C 12 109883374 109883374 T C snp 2059.77 0/1 99 152 64 88 0.58 exonic rs3825393 MYO1H AU nonsynonymous SNV NM_001101421 exon30 c.T3002C p.L1001P 0.704673 0.4821 0.729791 0.6584 0.5085 1 T 0.002 P -0.989 T 0.0 T 0.0 T Pathogenic 12_109883577_C->T 12 109883577 109883577 C T snp 418.77 0/1 99 22 9 13 0.59 intronic rs7969719 MYO1H AU NM_001101421 exon30 c.56894+160C>T 0.336661 0.3284 Uncertain 12_109895356_C->T 12 109895356 109895356 C T snp 576.77 0/1 99 33 11 22 0.67 intronic rs11831213 KCTD10 AU NM_031954 exon3 c.6035-78C>T 0.113219 0.0833 Uncertain 12_109896004_G->A 12 109896004 109896004 G A snp 86.77 0/1 30 4 1 3 0.75 intronic rs12227283 KCTD10 AU NM_031954 exon4 c.6484+121G>A 0.0341454 0.0823 Uncertain 12_109898373_G->A 12 109898373 109898373 G A snp 1079.77 0/1 99 87 46 41 0.47 intronic rs11066707 KCTD10 AU NM_031954 exon5 c.9041-67G>A 0.0341454 0.0823 Uncertain 12_109898732_A->G 12 109898732 109898732 A G snp 42.77 0/1 33 3 1 2 0.67 intronic rs1558804 KCTD10 AU NM_031954 exon5 c.9211+122A>G 0.5 0.3522 Uncertain 12_109914856_C->T 12 109914856 109914856 C T snp 232.77 0/1 99 21 11 10 0.48 intronic rs61941589 KCTD10 AU NM_031954 exon7 c.25665-208C>T 0.113419 0.0833 Uncertain 12_109915183_C->G 12 109915183 109915183 C G snp 772.77 0/1 99 52 26 26 0.5 upstream rs28384416 KCTD10 AU 0.0341454 0.0823 Uncertain 12_109937534_G->A 12 109937534 109937534 G A snp 962.77 0/1 99 72 36 36 0.5 exonic rs7298565 UBE3B AR nonsynonymous SNV NM_130466 exon12 c.G1037A p.R346Q 0.517173 0.3105 0.599723 0.5102 0.2963 0.83 T 0.001 P -0.959 T 0.0 T 0.0 T Pathogenic 12_109939419_C->T 12 109939419 109939419 C T snp 414.77 0/1 99 17 5 12 0.71 intronic rs73407594 UBE3B AR NM_183415 exon13 c.17983+80C>T 0.11242 0.0843 Uncertain 12_109947357_-->T 12 109947357 109947357 - T indel 584.73 0/1 99 53 29 24 0.45 intronic rs144651250 UBE3B AR NM_183415 exon16 c.26044-43insT 0.11242 0.0843 0.088672 0.0465 0.0590 Uncertain 12_109967891_G->C 12 109967891 109967891 G C snp 476.77 0/1 99 67 45 22 0.33 intronic rs11067105 UBE3B AR NM_183415 exon25 c.46521+14G>C 0.0135783 0.0665 0.000077 0.0034 0.0467 Uncertain 12_109968427_C->T 12 109968427 109968427 C T snp 1062.77 0/1 99 107 58 49 0.46 exonic rs12679 UBE3B AR synonymous SNV NM_130466 exon26 c.C2886T p.S962S 0.113019 0.0843 0.088344 0.0453 0.0588 Uncertain 12_109994870_A->T 12 109994870 109994870 A T snp 1052.77 0/1 99 87 40 47 0.54 exonic rs9593 MMAB AR nonsynonymous SNV NM_052845 exon9 c.T716A p.M239K 0.513379 0.3125 0.596263 0.5095 0.2970 1 T 0.000 P -0.915 T 0.0 T 0.0 T CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter|criteria_provided\x2c_single_submitter;CLNACC=RCV000082328.3|RCV000126790.1;CLNDSDB=MedGen|MedGen;CLNDSDBID=CN169374|CN221809 Pathogenic 12_109995097_A->G 12 109995097 109995097 A G snp 335.77 0/1 99 25 13 12 0.48 intronic rs888192 MMAB AR NM_052845 exon1 c.109+156A>G 0.513379 0.3125 Uncertain 12_109996825_-->ACCGCTGC 12 109996825 109996825 - ACCGCTGC indel 1189.73 0/1 99 33 20 13 0.39 intronic rs138098422 MMAB AR NM_052845 exon2 c.2068-75insACCGCTGC 0.0341454 0.0833 Uncertain 12_109997134_C->T 12 109997134 109997134 C T snp 127.77 0/1 99 14 9 5 0.36 intronic rs2287183 MMAB AR NM_052845 exon2 c.2128+174C>T 0.107827 0.0843 Uncertain 12_110002819_A->G 12 110002819 110002819 A G snp 332.77 0/1 99 22 10 12 0.55 intronic rs10850380 MMAB AR NM_052845 exon6 c.8091-104A>G 0.518371 0.3125 Uncertain 12_110004960_C->T 12 110004960 110004960 C T snp 34.77 0/1 63 11 7 4 0.36 intronic rs874170 MMAB AR NM_052845 exon7 c.11742-1614C>T 0.517173 0.3125 0.4745 0.3409 Uncertain 12_110006512_A->G 12 110006512 110006512 A G snp 2502.77 0/1 99 192 87 105 0.55 intronic rs11836136 MMAB AR NM_052845 exon7 c.11742-62A>G 0.294928 0.1577 Uncertain 12_110006737_T->A 12 110006737 110006737 T A snp 96.77 0/1 99 16 11 5 0.31 intronic rs182294884 MMAB AR NM_052845 exon7 c.11836+69T>A 0.0299521 0.0794 Uncertain 12_110011229_G->T 12 110011229 110011229 G T snp 692.77 0/1 99 88 58 30 0.34 exonic rs10774774 MMAB AR synonymous SNV NM_052845 exon1 c.C57A p.R19R 0.284944 0.1607 0.309139 0.2904 0.1391 Uncertain 12_110011230_C->T 12 110011230 110011230 C T snp 644.77 0/1 99 87 58 29 0.33 exonic rs10774775 MMAB AR nonsynonymous SNV NM_052845 exon1 c.G56A p.R19H 0.284944 0.1607 0.308445 0.2902 0.1387 1.000 P -1.001 T 0.989 D 0.556 D Pathogenic 12_110012467_G->T 12 110012467 110012467 G T snp 46.77 0/1 33 3 1 2 0.67 intronic rs3759387 MVK AR,AD 0.282149 0.1577 Uncertain 12_110012510_C->G 12 110012510 110012510 C G snp 269.77 0/1 99 16 7 9 0.56 intronic rs66616264 MVK AR,AD 0.282149 0.1577 Uncertain 12_110012766_A->G 12 110012766 110012766 A G snp 491.77 0/1 99 54 30 24 0.44 intronic rs61940512 MVK AR,AD NM_000431 exon2 c.78+61A>G 0.142173 0.124 0.121989 Uncertain 12_110014055_C->T 12 110014055 110014055 C T snp 1011.77 0/1 99 58 22 36 0.62 intronic rs3752662 MVK AR,AD NM_000431 exon3 c.1323+105C>T 0.291733 0.1577 Uncertain 12_110017125_T->C 12 110017125 110017125 T C snp 52.74 1/1 6 2 0 2 1.0 intronic rs3742015 MVK AR,AD NM_000431 exon4 c.4979-481T>C 0.445288 0.2847 0.4739 0.3143 Uncertain 12_110221631_G->C 12 110221631 110221631 G C snp 1312.77 0/1 99 105 53 52 0.5 intronic rs10774894 TRPV4 AU,AD NM_001177431 exon1 c.158+48G>C 0.561901 0.7639 0.476088 0.5389 0.7528 Uncertain 12_110226379_G->A 12 110226379 110226379 G A snp 3065.77 0/1 99 249 119 130 0.52 exonic rs3742037 TRPV4 AU,AD synonymous SNV NM_021625 exon13 c.C2034T p.I678I 0.180312 0.1905 0.130248 0.1666 0.1903 CLINSIG=non-pathogenic;CLNDBN=not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000125617.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Uncertain 12_110231717_C->G 12 110231717 110231717 C G snp 677.77 0/1 99 101 70 31 0.31 intronic rs10850750 TRPV4 AU,AD NM_001177431 exon8 c.10309-17C>G 0.161542 0.1081 0.176339 0.2400 0.1467 Uncertain 12_110240838_T->G 12 110240838 110240838 T G snp 3814.77 1/1 99 137 0 137 1.0 exonic rs3825394 TRPV4 AU,AD synonymous SNV NM_021625 exon4 c.A670C p.R224R 0.754393 0.9683 0.580809 0.6340 0.9534 Uncertain 12_110246369_A->G 12 110246369 110246369 A G snp 48.74 1/1 6 2 0 2 1.0 intronic rs3742032 TRPV4 AU,AD NM_001177431 exon14 c.24848+96A>G 0.760583 0.9673 Uncertain 12_110296095_G->C 12 110296095 110296095 G C snp 282.77 0/1 94 16 3 13 0.81 intronic rs4766488 GLTP AU NM_016433 exon4 c.6128-392G>C 0.625599 0.2827 Uncertain 12_110341933_A->G 12 110341933 110341933 A G snp 800.77 0/1 99 67 31 36 0.54 exonic rs10774978 TCHP AU nonsynonymous SNV NM_001143852 exon3 c.A380G p.K127R 0.311901 0.1438 0.305414 0.2647 0.2012 1 T 1.000 P -0.909 T 0.0 T 0.0 T Pathogenic 12_110342421_T->G 12 110342421 110342421 T G snp 793.77 0/1 99 69 39 30 0.43 intronic rs11068852 TCHP AU NM_032300 exon4 c.1710-120T>G 0.217053 0.1319 Uncertain 12_110342627_T->C 12 110342627 110342627 T C snp 554.77 0/1 99 61 32 29 0.48 intronic rs57860034 TCHP AU NM_032300 exon4 c.1767+29T>C 0.228634 0.1438 0.201984 0.1205 0.1321 Uncertain 12_110342685_C->T 12 110342685 110342685 C T snp 140.77 0/1 99 16 11 5 0.31 intronic rs16940657 TCHP AU NM_032300 exon4 c.1767+87C>T 0.228634 0.1438 Uncertain 12_110344240_C->T 12 110344240 110344240 C T snp 106.77 0/1 66 6 2 4 0.67 intronic rs2271320 TCHP AU NM_032300 exon5 c.3545-136C>T 0.217652 0.1438 Uncertain 12_110344287_C->A 12 110344287 110344287 C A snp 323.77 0/1 99 19 5 14 0.74 intronic rs2271319 TCHP AU NM_032300 exon5 c.3545-89C>A 0.217851 0.1438 Uncertain 12_110344339_T->C 12 110344339 110344339 T C snp 581.77 0/1 99 33 11 22 0.67 intronic rs2271318 TCHP AU NM_032300 exon5 c.3545-37T>C 0.228834 0.1438 0.201907 0.1211 0.1345 Uncertain 12_110344552_G->A 12 110344552 110344552 G A snp 848.77 0/1 99 77 38 39 0.51 intronic rs57957298 TCHP AU NM_032300 exon5 c.3614+107G>A 0.217652 0.1438 Uncertain 12_110345232_A->T 12 110345232 110345232 A T snp 1093.77 0/1 99 84 35 49 0.58 intronic rs2271317 TCHP AU NM_032300 exon6 c.4499-98A>T 0.228435 0.1438 Uncertain 12_110345305_-->CCT 12 110345305 110345305 - CCT indel 3623.73 0/1 99 124 53 71 0.57 intronic rs112275128 TCHP AU NM_032300 exon6 c.4499-25insCCT 0.226038 0.1438 0.198642 0.1197 0.1317 Uncertain 12_110346278_T->C 12 110346278 110346278 T C snp 286.77 0/1 99 54 40 14 0.26 intronic rs3742011 TCHP AU NM_032300 exon7 c.5559-112T>C 0.0840655 0.119 Uncertain 12_110346787_T->A 12 110346787 110346787 T A snp 914.77 0/1 99 109 69 40 0.37 intronic rs1567471 TCHP AU NM_032300 exon8 c.5911+45T>A 0.311701 0.1438 0.309934 0.2014 0.1325 Uncertain 12_110371897_G->C 12 110371897 110371897 G C snp 2563.77 0/1 99 225 113 112 0.5 intronic rs16940703 GIT2 AU NM_001135214 exon2 c.1108+7G>C 0.0842652 0.119 0.074658 0.0488 0.1135 Uncertain 12_110377056_C->T 12 110377056 110377056 C T snp 874.77 0/1 99 96 57 39 0.41 splicing rs145293256 GIT2 AU NM_001135214 exon4 c.6270+4C>T 0.00579073 0.0288 0.000077 0.0033 0.0433 Pathogenic 12_110383141_G->A 12 110383141 110383141 G A snp 1285.77 0/1 99 125 69 56 0.45 exonic rs11068997 GIT2 AU nonsynonymous SNV NM_057169 exon16 c.C1655T p.A552V 0.0648962 0.119 0.053437 0.0502 0.1292 0.27 T 1.0 P -0.964 T 0.849 T 0.321 P Pathogenic 12_110385079_G->T 12 110385079 110385079 G T snp 884.77 0/1 99 56 19 37 0.66 exonic rs2063388 GIT2 AU synonymous SNV NM_014776 exon14 c.C1473A p.L491L 0.0842652 0.119 0.074504 0.0488 0.1132 Uncertain 12_110386611_G->A 12 110386611 110386611 G A snp 1107.77 0/1 99 94 48 46 0.49 UTR3 rs74578156 GIT2 AU 0.0842652 0.119 0.074296 0.0494 0.1143 Uncertain 12_110397855_C->T 12 110397855 110397855 C T snp 261.77 0/1 99 17 9 8 0.47 intronic rs16940719 GIT2 AU NM_001135214 exon8 c.26981+92C>T 0.0840655 0.119 Uncertain 12_110403264_C->G 12 110403264 110403264 C G snp 1160.77 0/1 99 77 26 51 0.66 intronic rs10851035 GIT2 AU NM_001135214 exon11 c.32548-66C>G 0.313698 0.1448 0.293473 Uncertain 12_110418635_A->G 12 110418635 110418635 A G snp 1636.77 1/1 99 50 0 50 1.0 intronic rs7960775 GIT2 AU NM_001135214 exon13 c.47974-121A>G 0.990415 1 Uncertain 12_110418891_A->C 12 110418891 110418891 A C snp 1672.77 0/1 99 143 73 70 0.49 intronic rs56017297 GIT2 AU NM_001135214 exon13 c.48069+40A>C 0.224042 0.1448 0.196140 0.1128 0.1321 Uncertain 12_110427301_G->A 12 110427301 110427301 G A snp 131.77 0/1 99 14 8 6 0.43 intronic rs2271321 GIT2 AU NM_001135214 exon17 c.56712-193G>A 0.223842 0.1448 Uncertain 12_110456175_A->G 12 110456175 110456175 A G snp 1459.77 0/1 99 124 65 59 0.48 exonic rs2302689 ANKRD13A AU synonymous SNV NM_033121 exon5 c.A426G p.P142P 0.311502 0.1448 0.311395 0.1985 0.1321 Uncertain 12_110474070_T->C 12 110474070 110474070 T C snp 2834.77 0/1 99 248 127 121 0.49 exonic rs2287174 ANKRD13A AU nonsynonymous SNV NM_033121 exon14 c.T1514C p.L505P 0.0828674 0.119 0.073889 0.0485 0.1133 0.24 T 0.999 N -1.122 T 0.275 T 0.047 T Pathogenic 12_110486272_T->C 12 110486272 110486272 T C snp 735.77 0/1 99 55 22 33 0.6 intronic rs7137233 C12orf76 AU NM_207435 exon1 c.109+6008T>C 0.312899 0.1448 0.2790 0.2324 0.18 T 0.000 P -0.964 T 0.0 T 0.0 T Uncertain 12_110489208_C->T 12 110489208 110489208 C T snp 547.77 0/1 99 42 22 20 0.48 intronic rs11064860 C12orf76 AU NM_207435 exon2 c.14838-5785C>T 0.174121 0.119 Uncertain 12_110495171_C->G 12 110495171 110495171 C G snp 1025.77 0/1 99 77 31 46 0.6 intronic rs41436646 C12orf76 AU NM_207435 exon2 c.14946+70C>G 0.3127 0.0942 Uncertain 12_110503770_T->C 12 110503770 110503770 T C snp 939.77 0/1 99 73 33 40 0.55 UTR5 rs11829777 C12orf76 AU 0.307708 0.0933 0.308147 Uncertain 12_110584740_G->T 12 110584740 110584740 G T snp 37.77 0/1 66 23 15 8 0.35 intronic rs755194712 IFT81 AU NM_031473 exon10 c.19572-17G>T 1.806e-05 0 Uncertain 12_110719740_G->T 12 110719740 110719740 G T snp 1316.77 0/1 99 101 48 53 0.52 intronic ATP2A2 AD NM_001681 exon1 c.118+28G>T Uncertain 12_110764179_C->T 12 110764179 110764179 C T snp 2179.77 0/1 99 161 66 95 0.59 intronic ATP2A2 AD NM_001681 exon7 c.44600-15C>T Uncertain 12_110834031_A->- 12 110834031 110834031 A - indel 106.73 0/1 99 37 22 15 0.41 intronic rs369613988 ANAPC7 AU NM_016238 exon10 c.22122-39delA 0.3838 0.3860 Uncertain 12_110874502_T->- 12 110874502 110874502 T - indel 65.73 0/1 81 9 3 6 0.67 intronic rs200632933 ARPC3 AU NM_001287222 exon3 c.1529+14delT 0.3683 0.5065 Uncertain 12_110874504_T->A 12 110874504 110874504 T A snp 90.77 0/1 72 9 3 6 0.67 intronic rs201277439 ARPC3 AU NM_001287222 exon3 c.1529+16T>A 0.440495 0.4365 0.126065 0.3722 0.4495 Uncertain 12_110905869_G->A 12 110905869 110905869 G A snp 6770.77 1/1 99 249 0 249 1.0 intronic rs7958683 GPN3 AU NM_001164373 exon8 c.15092-61G>A 0.855831 0.995 Uncertain 12_110922929_G->T 12 110922929 110922929 G T snp 2565.77 0/1 99 239 122 117 0.49 exonic rs7956133 FAM216A AU synonymous SNV NM_013300 exon3 c.G231T p.L77L 0.0766773 0.0675 0.070967 0.0476 0.0774 Uncertain 12_110939421_T->C 12 110939421 110939421 T C snp 8161.77 1/1 99 250 0 250 1.0 intronic rs6606687 VPS29 AU NM_001282150 exon5 c.9555+57T>C 0.85643 0.995 0.8891 1 Uncertain 12_110974890_T->C 12 110974890 110974890 T C snp 1252.77 0/1 99 141 85 56 0.4 exonic rs10849900 PPTC7 AU synonymous SNV NM_139283 exon6 c.A867G p.P289P 0.324481 0.3889 0.259496 0.3426 0.3380 Uncertain 12_111290871_G->C 12 111290871 111290871 G C snp 786.77 0/1 99 53 20 33 0.62 intronic rs886132 CCDC63 AU NM_152591 exon2 c.9+104G>C 0.551318 0.6438 Uncertain 12_111375170_A->G 12 111375170 111375170 A G snp 772.77 0/1 99 86 56 30 0.35 ncRNA_exonic rs1056618 LINC01405 AU 0.628594 0.4762 Uncertain 12_111375172_C->T 12 111375172 111375172 C T snp 741.77 0/1 99 87 56 31 0.36 ncRNA_exonic rs1056620 LINC01405 AU 0.614417 0.4772 Uncertain 12_111701537_G->A 12 111701537 111701537 G A snp 3800.77 1/1 99 149 1 148 0.99 intronic rs59303212 CUX2 AU NM_015267 exon4 c.229583-27G>A 0.145168 0.2341 0.065689 0.0594 0.2244 Uncertain 12_111733274_C->T 12 111733274 111733274 C T snp 1612.77 0/1 99 143 79 64 0.45 intronic rs2301658 CUX2 AU NM_015267 exon7 c.261232+61C>T 0.365815 0.6746 0.229742 Uncertain 12_111742222_T->C 12 111742222 111742222 T C snp 825.77 1/1 60 28 0 28 1.0 intronic rs1362006 CUX2 AU NM_015267 exon10 c.270137+104T>C 0.612021 0.8681 Uncertain 12_111742280_G->A 12 111742280 111742280 G A snp 71.77 0/1 99 11 8 3 0.27 intronic rs372700239 CUX2 AU NM_015267 exon10 c.270137+162G>A Uncertain 12_111747963_C->T 12 111747963 111747963 C T snp 683.77 0/1 99 65 33 32 0.49 exonic rs3742007 CUX2 AU synonymous SNV NM_015267 exon15 c.C1377T p.P459P 0.334265 0.6567 0.170003 0.3347 0.7015 Uncertain 12_111757647_A->C 12 111757647 111757647 A C snp 338.77 0/1 99 17 5 12 0.71 intronic rs10849933 CUX2 AU NM_015267 exon17 c.285834-168A>C 0.353235 0.6577 Uncertain 12_111757660_A->G 12 111757660 111757660 A G snp 252.77 0/1 99 22 13 9 0.41 intronic rs11833191 CUX2 AU NM_015267 exon17 c.285834-155A>G 0.0756789 0.1012 Uncertain 12_111758620_A->G 12 111758620 111758620 A G snp 224.84 1/1 18 6 0 6 1.0 intronic rs4766505 CUX2 AU NM_015267 exon17 c.286598+41A>G 0.615415 0.8681 0.402342 0.4237 0.9124 Uncertain 12_111760251_G->C 12 111760251 111760251 G C snp 456.77 0/1 99 43 22 21 0.49 exonic rs3742006 CUX2 AU synonymous SNV NM_015267 exon18 c.G2793C p.V931V 0.350839 0.6577 0.214020 0.3706 0.7248 Uncertain 12_111779792_C->T 12 111779792 111779792 C T snp 1266.77 0/1 99 91 42 49 0.54 exonic rs16941414 CUX2 AU synonymous SNV NM_015267 exon21 c.C3594T p.I1198I 0.110823 0.1161 0.055573 0.0726 0.1166 Uncertain 12_111785586_T->C 12 111785586 111785586 T C snp 1463.77 0/1 99 106 47 59 0.56 exonic rs3803167 CUX2 AU synonymous SNV NM_015267 exon22 c.T3918C p.D1306D 0.527955 0.7639 0.324937 0.3671 0.8122 Uncertain 12_111786082_G->C 12 111786082 111786082 G C snp 4889.77 1/1 99 182 0 182 1.0 exonic rs6490073 CUX2 AU nonsynonymous SNV NM_015267 exon22 c.G4414C p.V1472L 1 1 1 1 1 T 0.000 P -0.967 T 0.0 T 0.0 T Pathogenic 12_111799524_-->TGT 12 111799524 111799524 - TGT indel 774.73 1/1 39 13 0 13 1.0 UTR3 rs113837079 FAM109A AU 0.611422 0.9107 Uncertain 12_111799681_T->C 12 111799681 111799681 T C snp 3251.77 1/1 99 117 0 117 1.0 UTR3 rs874286 FAM109A AU 0.61222 0.9127 0.4669 0.9167 Uncertain 12_111884608_T->C 12 111884608 111884608 T C snp 6948.77 1/1 99 250 0 250 1.0 exonic rs3184504 SH2B3 AU nonsynonymous SNV NM_005475 exon3 c.T784C p.W262R 0.852636 0.997 0.634015 0.6625 0.9991 1 T 0.0 P -0.956 T 0.0 T 0.0 T ID=CM084630;DIS=Celiac disease, association with;TAG=DFP;PUB=18311140 DFP Pathogenic 12_111885352_TGGGG->- 12 111885352 111885356 TGGGG - indel 3929.73 1/1 99 73 0 73 1.0 splicing rs111340708 SH2B3 AU NM_001291424 exon5 c.12643+4_12643+8delTGGGG 0.529752 0.87 0.3214 0.9020 ID=COSM1476127;OCCURENCE=1(breast) Pathogenic 12_111895203_C->G 12 111895203 111895203 C G snp 752.77 1/1 54 28 0 28 1.0 intronic rs2301622 ATXN2 AD,AO NM_002973 exon4 c.4548+40C>G 0.535343 0.8919 0.363601 0.3395 0.9153 Uncertain 12_111923417_A->G 12 111923417 111923417 A G snp 827.77 1/1 66 25 0 25 1.0 intronic rs2285518 ATXN2 AD,AO NM_002973 exon9 c.32901-99A>G 0.139976 0.5258 Uncertain 12_111963183_T->A 12 111963183 111963183 T A snp 553.77 0/1 99 55 33 22 0.4 intronic rs117122737 ATXN2 AD,AO NM_002973 exon20 c.72505+63T>A 0.00339457 0.0169 Uncertain 12_111993712_C->T 12 111993712 111993712 C T snp 715.03 1/1 12 31 2 29 0.94 exonic rs7969300 ATXN2 AD,AO nonsynonymous SNV NM_002973 exon2 c.G743A p.S248N 0.179513 0.5228 0.043064 0.0905 0.5838 0.49 T 0.950 P -0.900 T 0.0 T 0.002 T ID=CM143605;DIS=Schizophrenia, association with;TAG=DP;PUB=24333172 DP Pathogenic 12_112036754_GCT->- 12 112036754 112036756 GCT - indel 680.73 1/1 42 24 0 24 1.0 exonic rs10560189 ATXN2 AD,AO nonframeshift deletion NM_002973 exon1 c.563_565del p.188_189del 0.951078 1 0.908004 0.5912 0.53 ID=COSM404975;OCCURENCE=1(lung) Uncertain 12_112036797_C->T 12 112036797 112036797 C T snp 438.53 0/1 3 18 2 16 0.89 exonic rs4098854 ATXN2 AD,AO synonymous SNV NM_002973 exon1 c.G522A p.Q174Q 0.656749 0.622 0.6209 0.5859 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000116479.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 12_112119388_A->- 12 112119388 112119388 A - indel 69.84 0/1 16 13 3 10 0.77 intronic rs368877992 BRAP AU NM_006768 exon10 c.37438-52delA 0.327476 0.2808 Uncertain 12_112130708_A->G 12 112130708 112130708 A G snp 3645.77 1/1 99 131 0 131 1.0 intronic rs7132509 ACAD10 AU NM_025247 exon2 c.187+8A>G 0.196885 0.5813 0.055436 0.0927 0.6392 Uncertain 12_112183887_A->G 12 112183887 112183887 A G snp 529.77 1/1 39 22 0 22 1.0 intronic rs11066019 ACAD10 AU NM_025247 exon14 c.53434-60A>G 0.196885 0.5804 Uncertain 12_112184195_-->T 12 112184195 112184195 - T indel 54.74 0/1 27 14 2 12 0.86 intronic rs35354983 ACAD10 AU NM_025247 exon14 c.53575+107insT 0.338858 0.5734 Uncertain 12_112191139_A->G 12 112191139 112191139 A G snp 308.78 1/1 27 10 0 10 1.0 intronic rs7956676 ACAD10 AU NM_025247 exon19 c.61062-436A>G 0.509185 0.8452 Uncertain 12_112191641_G->A 12 112191641 112191641 G A snp 2693.77 1/1 99 93 0 93 1.0 exonic rs2074055 ACAD10 AU synonymous SNV NM_001136538 exon20 c.G2976A p.A992A 0.196486 0.5794 0.055052 0.0921 0.6378 Uncertain 12_112194727_C->T 12 112194727 112194727 C T snp 2696.77 1/1 99 92 0 92 1.0 UTR3 rs739580 ACAD10 AU 0.196286 0.5784 0.0681 0.6970 Uncertain 12_112241552_T->A 12 112241552 112241552 T A snp 301.78 1/1 24 9 0 9 1.0 intronic rs2106696 ALDH2 AU NM_000690 exon12 c.36876-110T>A 0.25639 0.5724 Uncertain 12_112280746_GTGG->- 12 112280746 112280749 GTGG - indel 1986.73 1/1 90 40 0 40 1.0 intronic rs138881887 MAPKAPK5 AU NM_139078 exon1 c.36+173_36+176delGTGG 0.166134 0.5754 Uncertain 12_112326145_T->C 12 112326145 112326145 T C snp 135.03 1/1 12 4 0 4 1.0 intronic rs2269803 MAPKAPK5 AU NM_139078 exon11 c.45754-146T>C 0.504593 0.8482 Uncertain 12_112330774_G->A 12 112330774 112330774 G A snp 1862.77 0/1 99 134 54 80 0.6 exonic rs150495619 MAPKAPK5 AU nonsynonymous SNV NM_003668 exon14 c.G1325A p.R442H 0.00519169 0.0258 0.000083 0.0028 0.0599 0.01 T 1.000 D -1.044 T 0.996 D 0.462 D Pathogenic 12_112337874_C->T 12 112337874 112337874 C T snp 4693.77 1/1 99 164 0 164 1.0 ncRNA_exonic rs7309681 ADAM1A AU 0.166134 0.5744 0.0630 0.6791 Uncertain 12_112338539_T->C 12 112338539 112338539 T C snp 7298.77 1/1 99 250 0 250 1.0 ncRNA_exonic rs3742000 ADAM1A AU 0.503195 0.8472 0.2535 0.8657 Uncertain 12_112370295_C->T 12 112370295 112370295 C T snp 1090.77 1/1 81 33 0 33 1.0 intronic rs11066094 TMEM116 AU NM_001193531 exon2 c.965-94C>T 0.166334 0.5744 Uncertain 12_112441741_G->T 12 112441741 112441741 G T snp 539.77 1/1 42 19 0 19 1.0 intronic rs9788216 TMEM116 AU NM_001193531 exon9 c.72243+74G>T 0.165735 0.5724 Uncertain 12_112451190_-->C 12 112451190 112451190 - C indel 2490.73 1/1 99 78 0 78 1.0 UTR5 rs3832865 ERP29 AU 0.175519 0.5754 Uncertain 12_112460147_T->G 12 112460147 112460147 T G snp 3716.77 1/1 99 125 0 125 1.0 exonic rs10774648 ERP29 AU synonymous SNV NM_006817 exon3 c.T477G p.P159P 0.184105 0.5744 0.044749 0.0905 0.6310 Uncertain 12_112460375_C->T 12 112460375 112460375 C T snp 1043.77 0/1 99 106 65 41 0.39 exonic rs185294277 ERP29 AU synonymous SNV NM_006817 exon3 c.C705T p.D235D 0.000798722 0.004 0.0003 0.0043 Uncertain 12_112477055_T->C 12 112477055 112477055 T C snp 1341.77 1/1 96 51 0 51 1.0 exonic rs12231744 NAA25 AU nonsynonymous SNV NM_024953 exon22 c.A2627G p.K876R 0.166534 0.5744 0.023297 0.0865 0.6343 0.27 T 1.000 P -0.937 T 0.001 T 0.002 T Pathogenic 12_112481084_G->T 12 112481084 112481084 G T snp 2354.77 1/1 99 79 0 79 1.0 intronic rs2272309 NAA25 AU NM_024953 exon6 c.13681+69G>T 0.165735 0.5734 Uncertain 12_112481346_C->T 12 112481346 112481346 C T snp 463.77 0/1 99 21 7 14 0.67 intronic rs117710002 NAA25 AU NM_024953 exon7 c.14094-82C>T 0.00319489 0.0159 Uncertain 12_112485951_G->A 12 112485951 112485951 G A snp 763.77 1/1 57 21 0 21 1.0 intronic rs3825388 NAA25 AU NM_024953 exon9 c.18761-144G>A 0.184305 0.5744 Uncertain 12_112486197_G->A 12 112486197 112486197 G A snp 2531.77 0/1 99 190 86 104 0.55 exonic rs3741996 NAA25 AU synonymous SNV NM_024953 exon16 c.C1779T p.I593I 0.00778754 0.0367 0.0032 0.0417 Uncertain 12_112509677_A->C 12 112509677 112509677 A C snp 4892.77 1/1 99 192 1 191 0.99 intronic rs11066147 NAA25 AU NM_024953 exon15 c.42364-21A>C 0.184305 0.5744 0.039443 0.0932 0.6321 Uncertain 12_112516637_T->C 12 112516637 112516637 T C snp 1694.77 1/1 99 51 0 51 1.0 intronic rs3741992 NAA25 AU NM_024953 exon19 c.49211+92T>C 0.166134 0.5744 Uncertain 12_112518803_G->A 12 112518803 112518803 G A snp 1291.77 0/1 99 109 59 50 0.46 intronic rs11066150 NAA25 AU NM_024953 exon20 c.51529-60G>A 0.0880591 0.4137 0.001752 Uncertain 12_112530702_A->G 12 112530702 112530702 A G snp 520.77 1/1 39 14 0 14 1.0 intronic rs79624283 NAA25 AU NM_024953 exon23 c.63520-152A>G 0.376198 0.8462 Uncertain 12_112577990_T->C 12 112577990 112577990 T C snp 99.28 1/1 9 3 0 3 1.0 intronic rs10850004 TRAFD1 AU NM_006700 exon5 c.10296-632T>C 0.165735 0.5734 0.1169 0.6842 Uncertain 12_112605611_T->C 12 112605611 112605611 T C snp 3836.77 1/1 99 136 0 136 1.0 intronic rs2242496 HECTD4 AU NM_001109662 exon6 c.5427-6T>C 0.165535 0.5734 0.021304 0.0857 0.6286 Uncertain 12_112628833_A->G 12 112628833 112628833 A G snp 3732.77 1/1 99 139 0 139 1.0 intronic rs877595 HECTD4 AU NM_001109662 exon17 c.28579+64A>G 0.165735 0.5744 Uncertain 12_112638676_-->GTGC 12 112638676 112638676 - GTGC indel 1493.73 0/1 99 93 21 72 0.77 intronic HECTD4 AU NM_001109662 exon22 c.38412+74insGTGC Uncertain 12_112641377_T->G 12 112641377 112641377 T G snp 2371.77 1/1 99 80 0 80 1.0 intronic rs2301712 HECTD4 AU NM_001109662 exon23 c.41249-62T>G 0.212061 0.5843 0.1179 0.6340 Uncertain 12_112647744_A->C 12 112647744 112647744 A C snp 256.8 1/1 21 7 0 7 1.0 intronic rs11066193 HECTD4 AU NM_001109662 exon27 c.47628-74A>C 0.165535 0.5734 Uncertain 12_112667675_T->G 12 112667675 112667675 T G snp 3484.77 1/1 99 131 0 131 1.0 exonic rs1005902 HECTD4 AU synonymous SNV NM_001109662 exon41 c.A5944C p.R1982R 0.628195 0.8899 0.421591 0.4421 0.9080 Uncertain 12_112668334_G->C 12 112668334 112668334 G C snp 135.03 1/1 12 4 0 4 1.0 intronic rs4767521 HECTD4 AU NM_001109662 exon37 c.68300-156G>C 0.165735 0.5744 Uncertain 12_112668343_T->C 12 112668343 112668343 T C snp 261.8 1/1 21 7 0 7 1.0 intronic rs4767522 HECTD4 AU NM_001109662 exon37 c.68300-147T>C 0.372404 0.8462 Uncertain 12_112673762_C->T 12 112673762 112673762 C T snp 182.9 1/1 15 5 0 5 1.0 intronic rs11066206 HECTD4 AU NM_001109662 exon41 c.73398+174C>T 0.151558 0.5734 Uncertain 12_112676668_G->A 12 112676668 112676668 G A snp 54.74 1/1 6 2 0 2 1.0 intronic rs11066208 HECTD4 AU NM_001109662 exon43 c.76665-187G>A 0.165935 0.5734 Uncertain 12_112677504_T->A 12 112677504 112677504 T A snp 135.03 1/1 12 4 0 4 1.0 intronic rs10850019 HECTD4 AU NM_001109662 exon44 c.77494-180T>A 0.165535 0.5734 Uncertain 12_112696177_T->C 12 112696177 112696177 T C snp 728.77 0/1 99 53 27 26 0.49 intronic rs78244729 HECTD4 AU NM_001109662 exon57 c.96109-122T>C 0.00319489 0.0159 Uncertain 12_112701726_T->C 12 112701726 112701726 T C snp 1026.77 1/1 78 29 0 29 1.0 intronic rs7310858 HECTD4 AU NM_001109662 exon60 c.101697-161T>C 0.211861 0.5833 Uncertain 12_112703732_A->C 12 112703732 112703732 A C snp 4409.77 1/1 99 174 0 174 1.0 exonic rs2301757 HECTD4 AU synonymous SNV NM_001109662 exon15 c.T2016G p.A672A 0.165535 0.5734 0.023528 0.0854 0.6282 Uncertain 12_112704961_A->G 12 112704961 112704961 A G snp 56.74 1/1 6 2 0 2 1.0 intronic rs4767572 HECTD4 AU NM_001109662 exon63 c.104596+175A>G 0.165535 0.5734 Uncertain 12_112707398_T->C 12 112707398 112707398 T C snp 1380.77 1/1 99 38 0 38 1.0 intronic rs11066226 HECTD4 AU NM_001109662 exon64 c.107317-109T>C 0.165535 0.5734 Uncertain 12_112708331_T->C 12 112708331 112708331 T C snp 1810.77 1/1 99 60 0 60 1.0 intronic rs10850023 HECTD4 AU NM_001109662 exon65 c.108073+68T>C 0.369609 0.8462 Uncertain 12_112712510_AAACA->- 12 112712510 112712514 AAACA - indel 713.73 1/1 33 11 0 11 1.0 intronic rs200991188 HECTD4 AU NM_001109662 exon67 c.112460-140_112460-136delAAACA Uncertain 12_112717000_C->T 12 112717000 112717000 C T snp 1400.77 1/1 99 49 0 49 1.0 intronic rs10492015 HECTD4 AU NM_001109662 exon68 c.116841-31C>T 0.165735 0.5734 0.021943 0.0853 0.6305 Uncertain 12_112743773_C->T 12 112743773 112743773 C T snp 963.77 1/1 72 27 0 27 1.0 intronic rs2285808 HECTD4 AU NM_001109662 exon70 c.143677-94C>T 0.165535 0.5734 Uncertain 12_112743843_T->C 12 112743843 112743843 T C snp 3294.77 1/1 99 112 0 112 1.0 intronic rs2285807 HECTD4 AU NM_001109662 exon70 c.143677-24T>C 0.165535 0.5734 0.021969 0.0890 0.6286 Uncertain 12_112750813_T->C 12 112750813 112750813 T C snp 264.8 1/1 21 7 0 7 1.0 intronic rs11066255 HECTD4 AU NM_001109662 exon73 c.150630-7T>C 0.166334 0.5764 0.0630 0.6223 Uncertain 12_112843363_G->A 12 112843363 112843363 G A snp 88.28 1/1 9 4 0 4 1.0 intronic rs2301723 RPL6 AU NM_000970 exon1 c.153+183G>A 0.395567 0.8442 Uncertain 12_112843998_A->T 12 112843998 112843998 A T snp 4480.77 1/1 99 168 0 168 1.0 intronic rs2233861 RPL6 AU NM_000970 exon3 c.1070-99A>T 0.509585 0.8442 Uncertain 12_113269412_A->G 12 113269412 113269412 A G snp 119.78 0/1 27 6 2 4 0.67 intronic rs10492024 RPH3A AU NM_001143854 exon3 c.71+3218A>G 0.390176 0.5685 Uncertain 12_113313470_C->T 12 113313470 113313470 C T snp 1396.77 0/1 99 160 94 66 0.41 intronic rs2891411 RPH3A AU NM_001143854 exon12 c.47360-13C>T 0.554912 0.5913 0.492465 0.4449 0.5699 Uncertain 12_113319471_G->A 12 113319471 113319471 G A snp 255.77 0/1 99 18 10 8 0.44 intronic rs886476 RPH3A AU NM_001143854 exon15 c.53453-105G>A 0.566693 0.6141 Uncertain 12_113319600_C->T 12 113319600 113319600 C T snp 1269.77 0/1 99 113 63 50 0.44 exonic rs2240194 RPH3A AU synonymous SNV NM_014954 exon14 c.C1263T p.N421N 0.568291 0.6181 0.495771 0.4489 0.5898 Uncertain 12_113319778_G->A 12 113319778 113319778 G A snp 2283.77 0/1 99 204 105 99 0.49 intronic rs10850088 RPH3A AU NM_001143854 exon15 c.53528+127G>A 0.566693 0.6111 Uncertain 12_113325460_T->C 12 113325460 113325460 T C snp 261.77 0/1 99 18 9 9 0.5 intronic rs7979186 RPH3A AU NM_001143854 exon17 c.59478-141T>C 0.577077 0.628 Uncertain 12_113325629_T->C 12 113325629 113325629 T C snp 2217.77 0/1 99 205 109 96 0.47 exonic rs4141253 RPH3A AU synonymous SNV NM_014954 exon16 c.T1452C p.F484F 0.521565 0.623 0.430571 0.4269 0.6017 Uncertain 12_113328981_G->A 12 113328981 113328981 G A snp 104.77 0/1 99 10 6 4 0.4 intronic rs3741982 RPH3A AU NM_001143854 exon19 c.62685+173G>A 0.317891 0.5357 Uncertain 12_113348870_G->A 12 113348870 113348870 G A snp 1975.77 0/1 99 173 85 88 0.51 exonic rs1131454 OAS1 AR,AU nonsynonymous SNV NM_001032409 exon3 c.G484A p.G162S 0.473842 0.5913 0.457404 0.5628 0.6141 0.33 T 0.0 P -0.949 T 0.006 T 0.01 T CLINSIG=other;CLNDBN=Diabetes_mellitus\x2c_type_1\x2c_susceptibility_to;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000015022.1;CLNDSDB=.;CLNDSDBID=. ID=CM060397;DIS=Diabetes, type 1, increased risk, association with;TAG=DP;PUB=16014697 DP Pathogenic 12_113357193_G->A 12 113357193 113357193 G A snp 663.77 0/1 99 56 29 27 0.48 splicing rs10774671 OAS1 AR,AU NM_016816 exon6 c.12349G>A 0.614417 0.745 0.569506 0.6685 0.7837 0.606 P CLINSIG=other;CLNDBN=Diabetes_mellitus\x2c_type_1\x2c_susceptibility_to;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000015021.1;CLNDSDB=.;CLNDSDBID=. ID=CS051261;DIS=Viral infection, susceptibility, association with;TAG=DFP;PUB=15732009 DFP Pathogenic 12_113357209_G->A 12 113357209 113357209 G A snp 751.77 0/1 99 75 39 36 0.48 exonic rs1131476 OAS1 AR,AU nonsynonymous SNV NM_016816 exon6 c.G1054A p.A352T 0.78774 0.745 0.739812 0.7177 0.7843 0.47 T 0.0 P -1.047 T 0.002 T 0.004 T Pathogenic 12_113357237_G->C 12 113357237 113357237 G C snp 1141.77 0/1 99 99 47 52 0.53 exonic rs1051042 OAS1 AR,AU nonsynonymous SNV NM_016816 exon6 c.G1082C p.R361T 0.787141 0.745 0.739736 0.7156 0.7841 0.49 T 0.0 P -1.053 T 0.0 T 0.0 T Pathogenic 12_113357442_G->A 12 113357442 113357442 G A snp 529.77 0/1 99 47 23 24 0.51 exonic rs2660 OAS1 AR,AU nonsynonymous SNV NM_001032409 exon6 c.G1189A p.G397R 0.78774 0.745 0.739812 0.7334 0.7910 0.84 T 0.0 P -1.016 T 0.075 T 0.016 T ID=CM119728;DIS=Prostate cancer, association with;TAG=DP;PUB=21638280 DP Pathogenic 12_113357450_C->T 12 113357450 113357450 C T snp 554.77 0/1 99 50 25 25 0.5 exonic OAS1 AR,AU synonymous SNV NM_001032409 exon6 c.C1197T p.S399S Uncertain 12_113369644_C->T 12 113369644 113369644 C T snp 1766.77 1/1 99 63 0 63 1.0 intergenic rs7968145 OAS1 AR,AU 0.978834 1 0.9484 1 Uncertain 12_113369716_A->- 12 113369716 113369716 A - indel 1858.73 0/1 99 78 31 47 0.6 intergenic rs11352835 OAS1 AR,AU 0.783347 0.749 0.6795 0.7692 Uncertain 12_113369759_G->C 12 113369759 113369759 G C snp 845.77 0/1 99 61 26 35 0.57 intergenic rs7967461 OAS1 AR,AU 0.783347 0.749 0.6756 0.76 0 D 0.000 P -1.039 T Uncertain 12_113376320_C->T 12 113376320 113376320 C T snp 715.77 0/1 99 40 15 25 0.63 UTR5 rs3815178 OAS3 AU 0.786342 0.749 0.756657 0.7144 0.7844 Uncertain 12_113376331_C->A 12 113376331 113376331 C A snp 815.77 0/1 99 56 22 34 0.61 UTR5 rs1859331 OAS3 AU 0.66274 0.749 0.647647 0.6848 0.7859 Uncertain 12_113376388_G->A 12 113376388 113376388 G A snp 1171.77 0/1 99 91 43 48 0.53 exonic rs1859330 OAS3 AU nonsynonymous SNV NM_006187 exon1 c.G53A p.R18K 0.663139 0.749 0.622465 0.6862 0.7882 0.13 T 0.000 P -1.077 T 0.296 T 0.069 T Pathogenic 12_113376452_C->T 12 113376452 113376452 C T snp 1360.77 0/1 99 112 55 57 0.51 exonic rs1859329 OAS3 AU synonymous SNV NM_006187 exon1 c.C117T p.A39A 0.786142 0.748 0.738408 0.7253 0.7902 Uncertain 12_113376543_-->CAAAGGG 12 113376543 113376543 - CAAAGGG indel 3995.73 0/1 99 98 45 53 0.54 intronic rs3038120 OAS3 AU NM_006187 exon1 c.177+31insCAAAGGG 0.785144 0.746 0.687587 0.6688 0.712 Uncertain 12_113385918_C->T 12 113385918 113385918 C T snp 1889.77 0/1 99 144 67 77 0.53 intronic rs7961861 OAS3 AU NM_006187 exon5 c.9569+14C>T 0.669728 0.9028 0.556043 0.6186 0.9089 Uncertain 12_113386616_T->C 12 113386616 113386616 T C snp 1529.77 0/1 99 121 62 59 0.49 intronic rs34647135 OAS3 AU NM_006187 exon6 c.10330-49T>C 0.315096 0.6567 0.170829 0.2743 0.6604 Uncertain 12_113386950_T->C 12 113386950 113386950 T C snp 1227.77 0/1 99 125 71 54 0.43 exonic rs2285932 OAS3 AU synonymous SNV NM_006187 exon6 c.T1314C p.I438I 0.842452 0.9117 0.768031 0.7580 0.9174 Uncertain 12_113387034_-->G 12 113387034 113387034 - G indel 609.73 0/1 99 63 32 31 0.49 intronic rs3214199 OAS3 AU NM_006187 exon6 c.10675+24insG 0.533918 0.6080 0.9074 Uncertain 12_113398919_G->A 12 113398919 113398919 G A snp 2590.77 0/1 99 216 106 110 0.51 exonic rs2072136 OAS3 AU synonymous SNV NM_006187 exon8 c.G1701A p.S567S 0.315495 0.6577 0.191126 0.3068 0.6658 Uncertain 12_113400826_C->T 12 113400826 113400826 C T snp 71.77 0/1 99 10 7 3 0.3 intronic rs61942232 OAS3 AU NM_006187 exon9 c.24372+119C>T 0.363419 0.746 Uncertain 12_113402297_C->T 12 113402297 113402297 C T snp 299.77 0/1 99 24 12 12 0.5 intronic rs11066461 OAS3 AU NM_006187 exon11 c.25878+84C>T 0.194688 0.2996 Uncertain 12_113405181_A->C 12 113405181 113405181 A C snp 1164.77 0/1 99 71 30 41 0.58 intronic rs1557866 OAS3 AU NM_006187 exon13 c.28887-41A>C 0.842452 0.9117 0.765010 0.7691 0.9243 Uncertain 12_113425154_C->G 12 113425154 113425154 C G snp 474.77 0/1 99 44 23 21 0.48 exonic rs1293767 OAS2 AU nonsynonymous SNV NM_001032731 exon2 c.C489G p.S163R 0.853435 0.9137 0.770065 0.7738 0.9202 0.0 P -1.055 T 0.0 T 0.0 T Pathogenic 12_113435109_A->G 12 113435109 113435109 A G snp 93.28 1/1 9 3 0 3 1.0 intronic rs1293757 OAS2 AU NM_002535 exon4 c.18911-215A>G 0.877596 1 Uncertain 12_113435293_C->A 12 113435293 113435293 C A snp 4067.77 1/1 99 143 0 143 1.0 intronic rs1293756 OAS2 AU NM_002535 exon4 c.18911-31C>A 0.877596 1 0.772413 0.7808 0.9998 Uncertain 12_113435450_A->T 12 113435450 113435450 A T snp 4596.77 1/1 99 166 0 166 1.0 exonic rs1293755 OAS2 AU synonymous SNV NM_002535 exon4 c.A753T p.V251V 0.877596 1 0.772567 0.7789 0.9993 Uncertain 12_113440921_T->C 12 113440921 113440921 T C snp 2273.77 0/1 99 226 118 108 0.48 intronic rs2072137 OAS2 AU NM_002535 exon6 c.24494+14T>C 0.323482 0.3819 0.309934 0.4124 0.4350 Uncertain 12_113444418_T->C 12 113444418 113444418 T C snp 2907.77 1/1 99 103 0 103 1.0 intronic rs929291 OAS2 AU NM_002535 exon8 c.27992+13T>C 0.782149 0.9167 0.698831 0.7498 0.9229 Uncertain 12_113444466_T->C 12 113444466 113444466 T C snp 867.77 0/1 99 67 31 36 0.54 intronic rs56014124 OAS2 AU NM_002535 exon8 c.27992+61T>C 0.0169728 0.0764 Uncertain 12_113445768_G->A 12 113445768 113445768 G A snp 1304.77 0/1 99 137 78 59 0.43 intronic rs1293746 OAS2 AU NM_002535 exon9 c.29335+20G>A 0.253594 0.5317 0.177149 0.2453 0.4846 Uncertain 12_113447200_C->- 12 113447200 113447200 C - indel 227.73 0/1 99 27 18 9 0.33 UTR3 rs34600329 OAS2 AU 0.294129 0.5248 Uncertain 12_113448288_A->G 12 113448288 113448288 A G snp 4548.77 1/1 99 158 0 158 1.0 exonic rs15895 OAS2 AU stoploss NM_016817 exon11 c.A2159G p.X720W 0.864417 0.997 0.749731 0.7536 0.9970 0.000 P Uncertain 12_113496313_C->T 12 113496313 113496313 C T snp 454.77 0/1 99 38 18 20 0.53 intronic rs1732785 DTX1 AU NM_004416 exon1 c.259+57C>T 0.302117 0.3234 Uncertain 12_113530845_-->AG 12 113530845 113530845 - AG indel 1396.73 0/1 99 72 35 37 0.51 intronic rs3217697 DTX1 AU NM_004416 exon3 c.34969-121insAG 0.872404 0.8274 Uncertain 12_113530899_A->G 12 113530899 113530899 A G snp 1205.77 0/1 99 102 49 53 0.52 intronic rs1628639 DTX1 AU NM_004416 exon3 c.34969-67A>G 0.872404 0.8304 0.848160 Uncertain 12_113531295_T->C 12 113531295 113531295 T C snp 191.77 0/1 99 11 5 6 0.55 intronic rs1625170 DTX1 AU NM_004416 exon4 c.35346-48T>C 0.873403 0.8294 0.865842 0.8243 0.8084 Uncertain 12_113531305_A->T 12 113531305 113531305 A T snp 294.77 0/1 99 18 7 11 0.61 intronic rs1674095 DTX1 AU NM_004416 exon4 c.35346-38A>T 0.814297 0.7698 0.821053 0.8016 0.7725 Uncertain 12_113533050_C->T 12 113533050 113533050 C T snp 3075.77 0/1 99 250 125 125 0.5 intronic rs2243397 DTX1 AU NM_004416 exon7 c.37011+42C>T 0.79972 0.7639 0.787944 0.7928 0.7672 Uncertain 12_113533124_C->T 12 113533124 113533124 C T snp 2994.77 0/1 99 247 124 123 0.5 splicing rs2243396 DTX1 AU NM_004416 exon8 c.37132-5C>T 0.801318 0.7639 0.787175 0.7901 0.7639 Pathogenic 12_113539822_A->G 12 113539822 113539822 A G snp 853.77 0/1 99 90 49 41 0.46 intronic rs1674101 RASAL1 AU NM_001193520 exon3 c.2081+8A>G 0.909145 0.8363 0.929033 0.9312 0.8259 Uncertain 12_113541940_C->T 12 113541940 113541940 C T snp 2211.77 0/1 99 189 97 92 0.49 intronic rs1613480 RASAL1 AU NM_001193520 exon5 c.4232-25C>T 0.775759 0.7907 0.765584 0.7788 0.7893 Uncertain 12_113544874_C->T 12 113544874 113544874 C T snp 2313.77 0/1 99 209 109 100 0.48 intronic rs2468355 RASAL1 AU NM_001193520 exon7 c.7168-27C>T 0.804712 0.7907 0.784715 0.7923 0.7879 Uncertain 12_113545393_A->G 12 113545393 113545393 A G snp 972.77 0/1 99 80 35 45 0.56 intronic rs736285 RASAL1 AU NM_001193520 exon7 c.7313+347A>G 0.779153 0.7907 0.7522 0.7692 Uncertain 12_113545787_A->G 12 113545787 113545787 A G snp 44.77 0/1 31 3 1 2 0.67 intronic rs936387 RASAL1 AU NM_001193520 exon8 c.8156-102A>G 0.946086 0.8502 Uncertain 12_113553408_C->T 12 113553408 113553408 C T snp 158.77 0/1 99 12 5 7 0.58 intronic rs1284878 RASAL1 AU NM_001193520 exon12 c.15706-31C>T 0.786542 0.7927 0.772336 0.7727 0.7781 Uncertain 12_113553481_C->T 12 113553481 113553481 C T snp 567.77 0/1 99 62 35 27 0.44 exonic rs1284879 RASAL1 AU nonsynonymous SNV NM_001193520 exon11 c.G962A p.R321H 0.780351 0.7927 0.766416 0.7747 0.7854 0.07 T 0.012 P -1.140 T 0.838 T 0.333 P Pathogenic 12_113565889_G->A 12 113565889 113565889 G A snp 1967.77 0/1 99 150 60 90 0.6 exonic rs2305908 RASAL1 AU synonymous SNV NM_001193520 exon4 c.C217T p.L73L 0.0347444 0.1587 0.001384 0.0146 0.1738 Uncertain 12_113568797_A->G 12 113568797 113568797 A G snp 419.77 0/1 99 47 29 18 0.38 intronic rs7976407 RASAL1 AU NM_001193520 exon20 c.31013+51A>G 0.178714 0.2133 0.128710 0.1242 0.2216 Uncertain 12_113587591_A->G 12 113587591 113587591 A G snp 538.77 0/1 99 40 16 24 0.6 upstream rs58588418 CCDC42B AU 0.0313498 0.1379 Uncertain 12_113589799_G->A 12 113589799 113589799 G A snp 679.77 0/1 99 62 32 30 0.48 exonic rs61738699 CCDC42B AU nonsynonymous SNV NM_001144872 exon2 c.G133A p.A45T 0.0329473 0.1488 0.001533 0.0104 0.1661 0.14 T 0.0 P -1.031 T 0.082 T 0.03 T Pathogenic 12_113599866_T->C 12 113599866 113599866 T C snp 911.77 0/1 99 121 79 42 0.35 intronic rs61941433 DDX54 AU NM_001111322 exon3 c.3121+64T>C 0.127995 0.2202 Uncertain 12_113600654_C->T 12 113600654 113600654 C T snp 504.77 0/1 99 22 5 17 0.77 intronic rs58194620 DDX54 AU NM_001111322 exon4 c.4055-82C>T 0.096845 0.2202 Uncertain 12_113600655_G->A 12 113600655 113600655 G A snp 563.77 0/1 99 23 6 17 0.74 intronic rs58200100 DDX54 AU NM_001111322 exon4 c.4055-81G>A 0.096845 0.2202 Uncertain 12_113600903_A->G 12 113600903 113600903 A G snp 1249.77 0/1 99 108 54 54 0.5 intronic rs61941434 DDX54 AU NM_001111322 exon5 c.4255-33A>G 0.128395 0.2222 0.086422 0.0898 0.2035 Uncertain 12_113605672_-->GGCCCTGGGCA 12 113605672 113605672 - GGCCCTGGGCA indel 2598.73 0/1 99 66 45 21 0.32 intronic rs113725144 DDX54 AU NM_001111322 exon8 c.7156+1835insGGCCCTGGGCA 0.150359 0.2292 Uncertain 12_113607502_T->C 12 113607502 113607502 T C snp 263.77 0/1 99 22 12 10 0.45 intronic rs2384207 DDX54 AU NM_001111322 exon9 c.10893-72T>C 0.22524 0.2411 Uncertain 12_113607823_G->A 12 113607823 113607823 G A snp 458.77 0/1 99 41 22 19 0.46 intronic rs2305902 DDX54 AU NM_001111322 exon9 c.11028+114G>A 0.131989 0.2282 Uncertain 12_113610091_T->C 12 113610091 113610091 T C snp 119.77 0/1 99 8 3 5 0.63 intronic rs58865727 DDX54 AU NM_001111322 exon10 c.13476-66T>C 0.0397364 0.1567 Uncertain 12_113610294_G->A 12 113610294 113610294 G A snp 445.77 0/1 99 69 48 21 0.3 exonic rs75658961 DDX54 AU synonymous SNV NM_001111322 exon11 c.C1143T p.L381L 0.0397364 0.1567 0.008227 0.0157 0.1552 Uncertain 12_113614824_T->C 12 113614824 113614824 T C snp 2527.77 0/1 99 224 113 111 0.5 intronic rs2305899 DDX54 AU NM_001111322 exon15 c.18175-32T>C 0.13139 0.2272 0.086883 0.0925 0.2099 Uncertain 12_113623241_C->G 12 113623241 113623241 C G snp 828.77 0/1 99 82 48 34 0.41 exonic rs2290766 DDX54 AU nonsynonymous SNV NM_001111322 exon1 c.G16C p.G6R 0.129792 0.2173 0.054321 0.1311 0.3028 1 T 0.0 P -0.923 T 0.0 T 0.0 T Pathogenic 12_113623268_G->T 12 113623268 113623268 G T snp 475.77 0/1 99 41 24 17 0.41 UTR5 rs74364136 DDX54 AU 0.0313498 0.1399 0.000620 0.0192 0.2010 Uncertain 12_113623326_G->T 12 113623326 113623326 G T snp 222.84 1/1 18 7 0 7 1.0 upstream rs11066508 DDX54 AU Uncertain 12_113623916_C->T 12 113623916 113623916 C T snp 2158.77 0/1 99 173 77 96 0.55 intronic rs77925866 RITA1 AU NM_001286215 exon1 c.8+90C>T 0.0313498 0.1399 Uncertain 12_113638348_G->A 12 113638348 113638348 G A snp 794.77 0/1 99 111 74 37 0.33 intronic rs75576846 IQCD AU NM_138451 exon1 c.315+4654G>A 0.0313498 0.1399 0.0106 0.1364 0 D 0.0 P -1.060 T 0.025 T 0.006 T Uncertain 12_113645916_C->T 12 113645916 113645916 C T snp 1130.77 0/1 99 90 42 48 0.53 exonic rs60284450 IQCD AU nonsynonymous SNV NM_138451 exon2 c.G56A p.R19K 0.0439297 0.1468 0.011841 0.0165 0.1482 0.16 T 0.0 P -0.926 T 0.208 T 0.038 T Pathogenic 12_113664818_G->A 12 113664818 113664818 G A snp 593.77 0/1 99 39 18 21 0.54 intronic rs7307222 TPCN1 AU NM_001143819 exon3 c.1719+49G>A 0.0445288 0.1468 0.010856 0.0174 0.1509 Uncertain 12_113705529_A->C 12 113705529 113705529 A C snp 500.77 0/1 99 38 21 17 0.45 intronic rs2303621 TPCN1 AU NM_001143819 exon6 c.42597-118A>C 0.0445288 0.1458 Uncertain 12_113705935_C->T 12 113705935 113705935 C T snp 216.77 0/1 99 14 7 7 0.5 intronic rs60813160 TPCN1 AU NM_001143819 exon6 c.42711+174C>T 0.0593051 0.1458 Uncertain 12_113705962_T->G 12 113705962 113705962 T G snp 35.77 0/1 64 6 4 2 0.33 intronic rs7135901 TPCN1 AU NM_001143819 exon6 c.42711+201T>G 0.134984 0.2143 Uncertain 12_113707679_C->T 12 113707679 113707679 C T snp 2284.77 0/1 99 187 97 90 0.48 intronic rs78394743 TPCN1 AU NM_001143819 exon8 c.44600+29C>T 0.0445288 0.1458 0.012994 0.0168 0.1486 Uncertain 12_113711264_A->G 12 113711264 113711264 A G snp 586.77 0/1 99 31 14 17 0.55 intronic rs2303617 TPCN1 AU NM_001143819 exon11 c.48323-109A>G 0.116014 0.2153 Uncertain 12_113715251_T->G 12 113715251 113715251 T G snp 1455.77 0/1 99 100 46 54 0.54 intronic rs7955036 TPCN1 AU NM_001143819 exon13 c.52119+82T>G 0.233027 0.2282 Uncertain 12_113715891_-->CCCA 12 113715891 113715891 - CCCA indel 5179.73 0/1 99 171 87 84 0.49 intronic rs3217307 TPCN1 AU NM_001143819 exon14 c.52943-102insCCCA 0.116014 0.2143 Uncertain 12_113717901_A->G 12 113717901 113717901 A G snp 404.77 0/1 99 56 36 20 0.36 intronic rs61943635 TPCN1 AU NM_001143819 exon16 c.54905-54A>G 0.135184 0.2143 0.089356 Uncertain 12_113722472_C->G 12 113722472 113722472 C G snp 1864.77 0/1 99 182 99 83 0.46 intronic rs2288366 TPCN1 AU NM_001143819 exon17 c.59392+30C>G 0.0736821 0.1458 0.044210 0.0260 0.1487 Uncertain 12_113724945_A->G 12 113724945 113724945 A G snp 1272.77 0/1 99 93 43 50 0.54 intronic rs2241544 TPCN1 AU NM_001143819 exon20 c.61849+46A>G 0.214058 0.2282 0.203829 0.1864 0.2274 Uncertain 12_113729956_G->A 12 113729956 113729956 G A snp 77.77 0/1 69 5 2 3 0.6 intronic rs2303616 TPCN1 AU NM_001143819 exon26 c.66713+193G>A 0.123802 0.2113 Uncertain 12_113737574_G->T 12 113737574 113737574 G T snp 1145.77 0/1 99 94 45 49 0.52 UTR3 rs2241543 SLC8B1 AU 0.0583067 0.1925 0.005075 0.0292 0.1813 Uncertain 12_113742246_T->C 12 113742246 113742246 T C snp 622.77 0/1 99 34 11 23 0.68 intronic rs16942728 SLC8B1 AU NM_024959 exon2 c.4609+56T>C 0.0625 0.1935 0.008760 Uncertain 12_113742280_C->T 12 113742280 113742280 C T snp 98.77 0/1 99 17 12 5 0.29 intronic rs191981848 SLC8B1 AU NM_024959 exon2 c.4609+90C>T 0.00159744 0.0079 Uncertain 12_113744592_C->G 12 113744592 113744592 C G snp 224.77 0/1 99 17 9 8 0.47 intronic rs16942736 SLC8B1 AU NM_024959 exon3 c.6799+212C>G 0.0507188 0.0218 Uncertain 12_113748245_C->T 12 113748245 113748245 C T snp 1631.77 0/1 99 130 61 69 0.53 intronic rs75062378 SLC8B1 AU NM_024959 exon5 c.10579+85C>T 0.0213658 0.0893 Uncertain 12_113756706_C->G 12 113756706 113756706 C G snp 367.77 0/1 99 24 12 12 0.5 intronic rs2288364 SLC8B1 AU NM_024959 exon9 c.19187-62C>G 0.241414 0.1984 Uncertain 12_113758166_G->A 12 113758166 113758166 G A snp 1715.77 0/1 99 161 89 72 0.45 exonic rs16942745 SLC8B1 AU nonsynonymous SNV NM_024959 exon7 c.C664T p.R222C 0.0890575 0.1706 0.041596 0.0560 0.1654 0.18 T 0.000 P -1.056 T 0.035 T 0.017 T Pathogenic 12_113796399_T->C 12 113796399 113796399 T C snp 127.77 0/1 99 25 19 6 0.24 UTR5 rs12825284 PLBD2 AU 0.172324 0.254 0.096024 0.1394 0.3080 Uncertain 12_113796566_A->C 12 113796566 113796566 A C snp 1924.77 1/1 99 71 0 71 1.0 exonic rs7965471 PLBD2 AU nonsynonymous SNV NM_001159727 exon1 c.A161C p.Q54P 0.64397 0.5208 0.639561 0.6834 0.5844 1 T 0.0 P -0.992 T 0.0 T 0.0 T Pathogenic 12_113830657_C->T 12 113830657 113830657 C T snp 370.77 0/1 99 45 26 19 0.42 UTR3 rs3812826 SDS AU 0.109824 0.2391 Uncertain 12_114261237_A->C 12 114261237 114261237 A C snp 948.77 1/1 72 30 1 29 0.97 intronic rs2059598 RBM19 AU NM_001146698 exon2 c.98+111A>C 0.26897 0.2946 Uncertain 12_114261286_T->G 12 114261286 114261286 T G snp 324.78 1/1 27 10 0 10 1.0 intronic rs930004 RBM19 AU NM_001146698 exon2 c.98+160T>G 0.934305 0.9702 Uncertain 12_114282277_C->T 12 114282277 114282277 C T snp 367.77 1/1 30 10 0 10 1.0 intronic rs759905 RBM19 AU NM_001146698 exon3 c.21444-195C>T 0.69389 0.9722 Uncertain 12_114282678_G->A 12 114282678 114282678 G A snp 1364.77 1/1 99 46 1 45 0.98 intronic rs2075386 RBM19 AU NM_001146698 exon3 c.21565+85G>A 0.433506 0.4881 Uncertain 12_114296745_C->T 12 114296745 114296745 C T snp 2553.77 1/1 99 93 0 93 1.0 intronic rs10744803 RBM19 AU NM_001146698 exon4 c.35673+44C>T 0.729034 0.9722 0.610411 0.6883 0.9718 Uncertain 12_114355974_C->T 12 114355974 114355974 C T snp 141.03 1/1 12 4 0 4 1.0 intronic rs2279051 RBM19 AU NM_001146698 exon6 c.95168-222C>T 0.266573 0.5069 Uncertain 12_114356357_T->C 12 114356357 114356357 T C snp 498.77 1/1 39 16 0 16 1.0 intronic rs10774721 RBM19 AU NM_001146698 exon6 c.95224+105T>C 0.708067 0.9891 Uncertain 12_114362483_C->T 12 114362483 114362483 C T snp 4890.77 1/1 99 175 1 174 0.99 intronic rs3782456 RBM19 AU NM_001146698 exon8 c.101473-18C>T 0.707867 0.9891 0.567430 0.6508 0.9838 Uncertain 12_114362621_A->G 12 114362621 114362621 A G snp 5668.77 1/1 99 196 1 195 0.99 intronic rs1458713 RBM19 AU NM_001146698 exon8 c.101534+59A>G 0.934704 0.9911 0.879106 Uncertain 12_114362632_A->G 12 114362632 114362632 A G snp 5321.77 1/1 99 186 0 186 1.0 intronic rs3782458 RBM19 AU NM_001146698 exon8 c.101534+70A>G 0.496406 0.7589 0.426851 Uncertain 12_114377899_G->C 12 114377899 114377899 G C snp 2820.77 1/1 99 104 0 104 1.0 exonic rs7299217 RBM19 AU nonsynonymous SNV NM_001146698 exon15 c.C1804G p.Q602E 0.995407 1 0.993849 0.9984 1 1 T 0.000 P -0.939 T 0.0 T 0.0 T Pathogenic 12_114379991_T->C 12 114379991 114379991 T C snp 2510.77 1/1 99 84 0 84 1.0 intronic rs2290791 RBM19 AU NM_001146698 exon12 c.119100-137T>C 0.716853 0.876 Uncertain 12_114383559_A->G 12 114383559 114383559 A G snp 684.77 1/1 51 20 0 20 1.0 intronic rs898081 RBM19 AU NM_001146698 exon13 c.122604-73A>G 0.804912 0.9891 Uncertain 12_114393028_C->G 12 114393028 114393028 C G snp 1051.77 1/1 75 44 0 44 1.0 intronic rs1037747 RBM19 AU NM_001146698 exon19 c.131988+12C>G 0.805711 0.9891 0.669076 0.6794 0.9836 Uncertain 12_114793240_C->T 12 114793240 114793240 C T snp 705.77 1/1 51 28 0 28 1.0 UTR3 rs883079 TBX5 AD 0.572284 0.4157 0.6837 0.5719 0.05 T 0.000 P -0.992 T Uncertain 12_114794057_T->G 12 114794057 114794057 T G snp 93.28 1/1 9 3 0 3 1.0 intronic rs2113433 TBX5 AD NM_000192 exon1 c.575+146T>G 0.794928 0.9196 Uncertain 12_115114036_C->T 12 115114036 115114036 C T snp 43.77 0/1 66 4 2 2 0.5 intronic rs551510 TBX3 AD NM_016569 exon3 c.4472-81C>T 0.458666 0.3661 Uncertain 12_115118997_G->A 12 115118997 115118997 G A snp 442.77 0/1 40 20 3 17 0.85 intronic rs515746 TBX3 AD NM_016569 exon7 c.9306+46G>A 0.444888 0.371 0.488053 0.4908 0.3550 Uncertain 12_115801070_G->A 12 115801070 115801070 G A snp 370.77 0/1 99 22 10 12 0.55 intergenic rs1920947 TBX3 AD 0.348442 0.2887 Uncertain 12_116404186_A->G 12 116404186 116404186 A G snp 152.77 0/1 99 14 7 7 0.5 intronic MED13L AD NM_015335 exon3 c.4978+138A>G Uncertain 12_116412921_A->T 12 116412921 116412921 A T snp 1301.77 1/1 93 42 0 42 1.0 intronic rs1992068 MED13L AD NM_015335 exon7 c.13905-54A>T 0.923323 0.9583 Uncertain 12_116412922_T->C 12 116412922 116412922 T C snp 1304.77 1/1 93 42 0 42 1.0 intronic rs1992069 MED13L AD NM_015335 exon7 c.13905-53T>C 0.923323 0.9583 Uncertain 12_116586415_TA->- 12 116586415 116586416 TA - indel 298.74 1/1 27 19 0 19 1.0 ncRNA_exonic rs10549054 MIR620 AU 0.3129 0.3957 Uncertain 12_116714158_C->T 12 116714158 116714158 C T snp 89.77 0/1 99 14 10 4 0.29 intronic rs60664000 MED13L AD NM_015335 exon31 c.315794-706C>T Uncertain 12_117013730_G->C 12 117013730 117013730 G C snp 1345.77 0/1 99 96 45 51 0.53 UTR5 rs7303998 MAP1LC3B2 AU 0.521765 0.2788 0.663002 0.6077 0.2746 Uncertain 12_117014175_A->- 12 117014175 117014175 A - indel 1219.73 0/1 99 106 46 60 0.57 UTR3 rs139308338 MAP1LC3B2 AU 0.404153 0.7103 0.0867 0.2581 Uncertain 12_117157823_C->G 12 117157823 117157823 C G snp 335.77 0/1 99 24 10 14 0.58 intronic rs2270619 C12orf49 AU NM_024738 exon2 c.2067+142C>G 0.0495208 0.1597 Uncertain 12_117158387_T->C 12 117158387 117158387 T C snp 591.77 0/1 99 44 21 23 0.52 intronic rs2270618 C12orf49 AU NM_024738 exon3 c.2638+135T>C 0.101637 0.1736 Uncertain 12_117186316_A->G 12 117186316 117186316 A G snp 905.77 1/1 69 23 0 23 1.0 intronic rs1532395 RNFT2 AU NM_032814 exon4 c.9343-1329A>G 0.846246 0.9881 Uncertain 12_117187907_T->C 12 117187907 117187907 T C snp 973.77 0/1 99 87 48 39 0.45 exonic rs111256849 RNFT2 AU synonymous SNV NM_001109903 exon4 c.T345C p.H115H 0.25639 0.1786 0.189694 0.2819 0.2980 Uncertain 12_117217141_T->C 12 117217141 117217141 T C snp 2288.77 1/1 99 87 0 87 1.0 exonic rs4767452 RNFT2 AU synonymous SNV NM_001109903 exon7 c.T870C p.A290A 0.871605 0.9534 0.856297 0.8834 0.9475 Uncertain 12_117286981_C->T 12 117286981 117286981 C T snp 400.77 0/1 99 26 11 15 0.58 intronic rs4767461 RNFT2 AU NM_001109903 exon11 c.108816-137C>T 0.4375 0.4583 Uncertain 12_117289600_GAAA->- 12 117289600 117289603 GAAA - indel 1160.73 0/1 99 53 30 23 0.43 intronic rs139947917 RNFT2 AU NM_001109903 exon12 c.111840-542_111840-539delGAAA 0.1953 0.3548 Uncertain 12_117289613_G->C 12 117289613 117289613 G C snp 798.77 0/1 99 61 24 37 0.61 intronic rs903775 RNFT2 AU NM_001109903 exon12 c.111840-529G>C 0.449281 0.4732 0.5971 0.4421 0.03 T 0.0 P -1.001 T Uncertain 12_117290601_T->C 12 117290601 117290601 T C snp 1748.77 1/1 99 58 0 58 1.0 UTR3 rs903772 RNFT2 AU 0.822684 0.8244 Uncertain 12_117349014_C->G 12 117349014 117349014 C G snp 506.77 0/1 99 34 17 17 0.5 exonic rs11068230 FBXW8 AU nonsynonymous SNV NM_153348 exon1 c.C172G p.R58G 0.754992 0.7321 0.8333 . 1 T 1.000 P -1.005 T 0.0 T 0.0 T Pathogenic 12_117383320_G->A 12 117383320 117383320 G A snp 573.77 0/1 99 51 24 27 0.53 exonic rs4076700 FBXW8 AU nonsynonymous SNV NM_012174 exon3 c.G377A p.R126Q 0.641773 0.7302 0.666615 0.7886 0.7432 0.17 T 0.995 P -1.116 T 1.0 D 0.977 D Pathogenic 12_117387645_A->G 12 117387645 117387645 A G snp 821.77 0/1 99 70 35 35 0.5 intronic rs7136629 FBXW8 AU NM_153348 exon4 c.38669+134A>G 0.0656949 0.2302 Uncertain 12_117423264_G->A 12 117423264 117423264 G A snp 578.77 0/1 99 54 27 27 0.5 ncRNA_intronic rs7131746 LOC100506551 AU 0.678315 0.7421 Uncertain 12_117465264_C->T 12 117465264 117465264 C T snp 1305.77 0/1 99 134 77 57 0.43 exonic rs3741466 FBXW8 AU nonsynonymous SNV NM_012174 exon10 c.C1409T p.T470M 0.0181709 0.0833 0.000461 0.0076 0.0953 0.09 T 0.999 N -0.879 T 0.65 T 0.02 P Pathogenic 12_117465857_T->C 12 117465857 117465857 T C snp 3749.77 1/1 99 120 0 120 1.0 exonic rs4529958 FBXW8 AU synonymous SNV NM_012174 exon11 c.T1479C p.Y493Y 0.945687 0.997 0.885130 0.8880 0.9957 Uncertain 12_117465981_T->C 12 117465981 117465981 T C snp 2077.77 0/1 99 180 86 94 0.52 UTR3 rs2291916 FBXW8 AU 0.524161 0.4573 0.484776 0.3753 0.4459 Uncertain 12_117484336_G->A 12 117484336 117484336 G A snp 472.77 0/1 99 35 17 18 0.51 intronic rs2270793 TESC AU NM_001168325 exon3 c.7426-27G>A 0.0730831 0.2202 0.024241 0.0324 0.1845 Uncertain 12_117484798_T->C 12 117484798 117484798 T C snp 83.77 0/1 69 5 2 3 0.6 intronic rs10774899 TESC AU NM_001168325 exon4 c.7706+155T>C 0.515176 0.4365 Uncertain 12_117486389_G->A 12 117486389 117486389 G A snp 1649.77 0/1 99 110 48 62 0.56 intronic rs2291913 TESC AU NM_001168325 exon5 c.9886-434G>A 0.0389377 0.1845 Uncertain 12_117486471_G->A 12 117486471 117486471 G A snp 3460.77 0/1 99 250 119 131 0.52 intronic rs2291912 TESC AU NM_001168325 exon5 c.9886-352G>A 0.0708866 0.2202 Uncertain 12_117494501_C->G 12 117494501 117494501 C G snp 37.77 0/1 66 6 4 2 0.33 intronic rs2270792 TESC AU NM_017899 exon6 c.17673-109C>G 0.0708866 0.2192 Uncertain 12_117494543_A->G 12 117494543 117494543 A G snp 345.77 0/1 99 29 18 11 0.38 intronic rs2173654 TESC AU NM_017899 exon6 c.17673-67A>G 0.509784 0.4365 Uncertain 12_117593216_C->A 12 117593216 117593216 C A snp 366.77 1/1 30 11 0 11 1.0 intronic rs4767506 FBXO21 AU NM_015002 exon2 c.9704-379C>A 0.349241 0.4425 Uncertain 12_117593387_G->A 12 117593387 117593387 G A snp 1978.77 1/1 99 74 0 74 1.0 intronic rs79478437 FBXO21 AU NM_015002 exon2 c.9704-208G>A 0.220447 0.4226 0.2523 0.5147 Uncertain 12_117593391_A->G 12 117593391 117593391 A G snp 1930.77 1/1 99 76 1 75 0.99 intronic rs4767507 FBXO21 AU NM_015002 exon2 c.9704-204A>G 0.351238 0.4464 0.4116 0.5135 Uncertain 12_117595930_G->A 12 117595930 117595930 G A snp 781.77 1/1 57 30 0 30 1.0 intronic rs2279765 FBXO21 AU NM_033624 exon3 c.11998+41G>A 0.222244 0.4226 0.162716 0.2377 0.4170 Uncertain 12_117595978_A->C 12 117595978 117595978 A C snp 433.77 1/1 33 16 0 16 1.0 intronic rs2279766 FBXO21 AU NM_033624 exon3 c.11998+89A>C 0.570088 0.5843 Uncertain 12_117603161_T->C 12 117603161 117603161 T C snp 139.03 1/1 12 4 0 4 1.0 intronic rs2270791 FBXO21 AU NM_015002 exon4 c.19398-128T>C 0.243011 0.4425 Uncertain 12_117603561_G->A 12 117603561 117603561 G A snp 135.03 1/1 12 5 0 5 1.0 intronic rs4767511 FBXO21 AU NM_015002 exon4 c.19531+139G>A 0.366813 0.4464 Uncertain 12_117611934_C->T 12 117611934 117611934 C T snp 331.78 1/1 27 9 0 9 1.0 intronic rs57632063 FBXO21 AU NM_015002 exon7 c.28118-75C>T 0.241613 0.4435 Uncertain 12_117612357_T->C 12 117612357 117612357 T C snp 1784.77 1/1 99 51 0 51 1.0 intronic rs3817015 FBXO21 AU NM_015002 exon8 c.28564-98T>C 0.243011 0.4435 Uncertain 12_117612734_T->C 12 117612734 117612734 T C snp 307.78 1/1 24 8 0 8 1.0 intronic rs4767513 FBXO21 AU NM_015002 exon8 c.28711+132T>C 0.596645 0.5863 Uncertain 12_117612735_G->A 12 117612735 117612735 G A snp 309.78 1/1 24 8 0 8 1.0 intronic rs73206063 FBXO21 AU NM_015002 exon8 c.28711+133G>A 0.239217 0.4236 Uncertain 12_117636032_G->A 12 117636032 117636032 G A snp 53.74 1/1 6 3 0 3 1.0 intergenic rs11068409 FBXO21 AU 0.231629 0.4306 Uncertain 12_117636075_A->T 12 117636075 117636075 A T snp 59.74 1/1 6 3 0 3 1.0 intergenic rs59514465 FBXO21 AU 0.287939 0.4286 0.3060 0.3636 Uncertain 12_117660467_C->G 12 117660467 117660467 C G snp 377.77 0/1 99 28 12 16 0.57 intronic rs816363 NOS1 AU NM_001204218 exon4 c.7406-52C>G 0.543331 0.4752 Uncertain 12_117660690_T->C 12 117660690 117660690 T C snp 1265.77 0/1 99 94 39 55 0.59 intronic rs2271984 NOS1 AU NM_001204218 exon4 c.7555+22T>C 0.013778 0.0486 0.001279 0.0050 0.0513 Uncertain 12_117662712_G->A 12 117662712 117662712 G A snp 326.77 0/1 99 29 16 13 0.45 intronic rs2293046 NOS1 AU NM_001204218 exon5 c.9707-108G>A 0.540535 0.4792 Uncertain 12_117665264_A->G 12 117665264 117665264 A G snp 731.77 0/1 99 37 10 27 0.73 exonic rs9658501 NOS1 AU synonymous SNV NM_000620 exon23 c.T3588C p.T1196T 0.0255591 0.0506 0.017593 0.0139 0.0538 Uncertain 12_117665544_A->C 12 117665544 117665544 A C snp 661.77 0/1 99 51 26 25 0.49 intronic rs904658 NOS1 AU NM_001204218 exon7 c.12333+98A>C 0.508187 0.4792 Uncertain 12_117672339_T->C 12 117672339 117672339 T C snp 547.77 0/1 99 48 27 21 0.44 intronic rs1875140 NOS1 AU NM_001204218 exon9 c.19256-30T>C 0.312101 0.3938 0.243314 0.2403 0.3908 Uncertain 12_117685399_C->T 12 117685399 117685399 C T snp 235.77 0/1 60 11 4 7 0.64 intronic rs9658463 NOS1 AU NM_001204218 exon12 c.32214+72C>T 0.159944 0.0476 Uncertain 12_117691727_T->A 12 117691727 117691727 T A snp 371.77 0/1 99 20 8 12 0.6 intronic rs2682822 NOS1 AU NM_001204218 exon13 c.38446+168T>A 0.632188 0.6409 Uncertain 12_117696164_G->A 12 117696164 117696164 G A snp 476.77 0/1 99 61 39 22 0.36 intronic rs1093329 NOS1 AU NM_001204218 exon15 c.43088-37G>A 0.560903 0.6409 0.461875 0.4718 0.6126 Uncertain 12_117696421_G->A 12 117696421 117696421 G A snp 456.77 0/1 99 37 20 17 0.46 intronic rs2293053 NOS1 AU NM_001204218 exon15 c.43147+161G>A 0.0185703 0.0496 Uncertain 12_117701714_A->G 12 117701714 117701714 A G snp 6438.77 1/1 99 236 0 236 1.0 exonic rs2293054 NOS1 AU synonymous SNV NM_000620 exon13 c.T2202C p.I734I 0.748802 0.7629 0.770469 0.7060 0.7729 Uncertain 12_117705774_C->T 12 117705774 117705774 C T snp 79.77 0/1 99 9 5 4 0.44 intronic rs3741480 NOS1 AU NM_001204218 exon20 c.52734-73C>T 0.4377 0.4157 Uncertain 12_117718336_C->T 12 117718336 117718336 C T snp 185.77 0/1 99 14 7 7 0.5 intronic rs3782201 NOS1 AU NM_001204218 exon23 c.65416-193C>T 0.0333466 0.1617 Uncertain 12_117718473_-->GGTAAAA 12 117718473 117718473 - GGTAAAA indel 9020.73 1/1 99 91 0 91 1.0 intronic rs11282297 NOS1 AU NM_001204218 exon23 c.65416-56insGGTAAAA Uncertain 12_117718686_G->C 12 117718686 117718686 G C snp 4543.77 1/1 99 167 1 166 0.99 intronic rs2293051 NOS1 AU NM_001204218 exon23 c.65558+15G>C 0.334265 0.4018 0.321507 0.3514 0.4374 Uncertain 12_117768105_-->CACA 12 117768105 117768105 - CACA indel 546.73 0/1 99 30 15 15 0.5 intronic rs111326073 NOS1 AU NM_001204218 exon29 c.115036-44insCACA 0.240016 0.2857 0.3184 0.3383 Uncertain 12_117905636_-->A 12 117905636 117905636 - A indel 933.73 1/1 45 61 4 57 0.93 intronic rs36058871 KSR2 AU NM_173598 exon1 c.7+626insA 0.838059 0.869 0.5748 0.6181 Uncertain 12_117905716_-->GGGTTTCTG 12 117905716 117905716 - GGGTTTCTG indel 2783.73 1/1 75 27 0 27 1.0 intronic rs111919379 KSR2 AU NM_173598 exon1 c.7+706insGGGTTTCTG 0.917332 0.9256 Uncertain 12_117907760_C->T 12 117907760 117907760 C T snp 201.84 1/1 18 6 0 6 1.0 intronic rs1068940 KSR2 AU NM_173598 exon2 c.2597+160C>T 0.76238 0.878 Uncertain 12_117965157_C->G 12 117965157 117965157 C G snp 77.77 0/1 99 6 3 3 0.5 intronic rs7309204 KSR2 AU NM_173598 exon8 c.59921+233C>G Uncertain 12_118016786_C->A 12 118016786 118016786 C A snp 93.28 1/1 9 3 0 3 1.0 intronic rs708861 KSR2 AU NM_173598 exon14 c.111920-137C>A 0.951877 0.9881 Uncertain 12_118017201_C->T 12 118017201 118017201 C T snp 890.77 1/1 66 26 0 26 1.0 intronic rs4767569 KSR2 AU NM_173598 exon14 c.112004+194C>T 0.773562 0.7897 Uncertain 12_118020115_G->A 12 118020115 118020115 G A snp 2854.77 0/1 99 250 126 124 0.5 exonic rs11068551 KSR2 AU synonymous SNV NM_173598 exon6 c.C1134T p.L378L 0.399161 0.5486 0.372262 0.4656 0.5341 Uncertain 12_118105513_C->A 12 118105513 118105513 C A snp 261.77 0/1 99 31 18 13 0.42 intronic rs11068610 KSR2 AU NM_173598 exon16 c.200460+50C>A 0.063099 0.12 0.010433 0.0328 0.1415 Uncertain 12_118199286_C->G 12 118199286 118199286 C G snp 1983.77 1/1 99 69 0 69 1.0 exonic rs617641 KSR2 AU synonymous SNV NM_173598 exon4 c.G429C p.T143T 0.942093 0.9474 0.903236 0.8985 0.9476 Uncertain 12_118406112_A->G 12 118406112 118406112 A G snp 214.84 1/1 18 7 0 7 1.0 upstream rs7309205 KSR2 AU 0.996605 1 Uncertain 12_118454833_C->G 12 118454833 118454833 C G snp 174.9 1/1 15 5 0 5 1.0 intronic rs2241737 RFC5 AU NM_007370 exon1 c.65+136C>G 0.689896 0.6944 Uncertain 12_118455541_T->C 12 118455541 118455541 T C snp 431.77 0/1 99 34 17 17 0.5 UTR5 rs528561452 RFC5 AU 0.000199681 0.001 0 D 1.000 N -1.012 T Uncertain 12_118455759_T->G 12 118455759 118455759 T G snp 6723.77 1/1 99 247 0 247 1.0 UTR5 rs2393374 RFC5 AU 0.746406 0.7946 0.7319 0.8333 Uncertain 12_118455912_G->C 12 118455912 118455912 G C snp 389.77 1/1 30 11 0 11 1.0 intronic rs2393375 RFC5 AU NM_181578 exon2 c.2+54G>C 0.746406 0.7946 Uncertain 12_118480874_G->A 12 118480874 118480874 G A snp 2663.77 1/1 99 87 0 87 1.0 intronic rs7312586 WSB2 AU NM_018639 exon7 c.8937-63G>A 0.306709 0.3313 Uncertain 12_118506186_A->T 12 118506186 118506186 A T snp 1317.77 0/1 99 116 57 59 0.51 exonic rs67405503 VSIG10 AU synonymous SNV NM_019086 exon8 c.T1563A p.L521L 0.421326 0.372 0.399188 0.4160 0.3913 Uncertain 12_118508796_A->G 12 118508796 118508796 A G snp 1775.77 0/1 99 216 136 80 0.37 intronic rs7135008 VSIG10 AU NM_019086 exon3 c.4413-60A>G 0.485823 0.7708 0.349321 Uncertain 12_118509086_A->T 12 118509086 118509086 A T snp 338.78 1/1 27 10 0 10 1.0 intronic rs7135400 VSIG10 AU NM_019086 exon4 c.4720-77A>T 0.766973 0.9921 Uncertain 12_118509138_A->G 12 118509138 118509138 A G snp 452.77 0/1 99 65 46 19 0.29 intronic rs9669300 VSIG10 AU NM_019086 exon4 c.4720-25A>G 0.202276 0.253 0.160607 0.1711 0.2481 Uncertain 12_118509148_C->T 12 118509148 118509148 C T snp 657.77 0/1 99 83 56 27 0.33 intronic rs7308222 VSIG10 AU NM_019086 exon4 c.4720-15C>T 0.667332 0.9286 0.530316 0.5177 0.9154 Uncertain 12_118509157_T->C 12 118509157 118509157 T C snp 763.77 0/1 99 92 60 32 0.35 intronic rs7296643 VSIG10 AU NM_019086 exon4 c.4720-6T>C 0.682308 0.9296 0.538166 0.5213 0.9169 Uncertain 12_118509191_G->A 12 118509191 118509191 G A snp 1508.77 0/1 99 148 86 62 0.42 exonic rs7307331 VSIG10 AU nonsynonymous SNV NM_019086 exon6 c.C1303T p.H435Y 0.541933 0.7808 0.400748 0.3774 0.7668 0.88 T 0.000 P -0.956 T 0.0 T 0.0 T Pathogenic 12_118509347_T->C 12 118509347 118509347 T C snp 2010.77 0/1 99 171 81 90 0.53 intronic rs9669474 VSIG10 AU NM_019086 exon4 c.4831+73T>C 0.235024 0.2659 Uncertain 12_118511726_C->T 12 118511726 118511726 C T snp 1425.77 0/1 99 114 55 59 0.52 exonic rs9668527 VSIG10 AU nonsynonymous SNV NM_019086 exon5 c.G997A p.V333M 0.0593051 0.1071 0.030204 0.0253 0.0973 0.05 T 0.295 P -0.649 T 1.0 D 0.995 D Pathogenic 12_118511944_G->C 12 118511944 118511944 G C snp 38.78 0/1 27 3 1 2 0.67 intronic rs9669397 VSIG10 AU NM_019086 exon5 c.7354+147G>C 0.0389377 0.1071 Uncertain 12_118520170_G->A 12 118520170 118520170 G A snp 1413.77 0/1 99 88 34 54 0.61 exonic rs7488309 VSIG10 AU synonymous SNV NM_019086 exon3 c.C426T p.Y142Y 0.463259 0.5903 0.415459 0.4422 0.5968 Uncertain 12_118520240_G->A 12 118520240 118520240 G A snp 413.77 0/1 99 21 7 14 0.67 splicing rs6490164 VSIG10 AU NM_019086 exon7 c.15791+6G>A 0.717851 0.7004 0.676343 0.6227 0.7108 Pathogenic 12_118541239_C->T 12 118541239 118541239 C T snp 209.77 0/1 99 19 9 10 0.53 intronic rs7961197 VSIG10 AU NM_019086 exon9 c.36954-158C>T 0.16254 0.0952 Uncertain 12_118574182_A->C 12 118574182 118574182 A C snp 348.77 0/1 99 20 7 13 0.65 intronic rs2293444 PEBP1 AU NM_002567 exon1 c.135+33A>C 0.320487 0.5486 0.108835 0.2333 0.5066 Uncertain 12_118639312_G->A 12 118639312 118639312 G A snp 898.77 0/1 99 66 29 37 0.56 intronic rs17440433 TAOK3 AU NM_016281 exon10 c.50467+44G>A 0.0559105 0.0089 0.104875 0.1061 0.0040 Uncertain 12_118676100_A->G 12 118676100 118676100 A G snp 80.77 0/1 99 6 3 3 0.5 intronic rs61945206 TAOK3 AU NM_016281 exon15 c.87173+126A>G 0.0790735 0.0089 Uncertain 12_118676940_A->G 12 118676940 118676940 A G snp 1086.77 0/1 99 104 56 48 0.46 intronic rs16948197 TAOK3 AU NM_016281 exon16 c.88230-91A>G 0.0794728 0.0089 Uncertain 12_118682751_C->T 12 118682751 118682751 C T snp 1551.77 0/1 99 129 60 69 0.53 exonic rs428073 TAOK3 AU nonsynonymous SNV NM_016281 exon4 c.G140A p.S47N 0.73123 0.7143 0.710980 0.7142 0.7238 1 T 1.0 P -0.961 T 0.0 T 0.0 T Pathogenic 12_118817830_C->G 12 118817830 118817830 C G snp 197.77 0/1 99 25 17 8 0.32 intronic rs12230104 SUDS3 AU NM_022491 exon2 c.3470-136C>G 0.102236 0.2817 Uncertain 12_118817877_G->A 12 118817877 118817877 G A snp 529.77 0/1 99 51 29 22 0.43 intronic rs10850967 SUDS3 AU NM_022491 exon2 c.3470-89G>A 0.333466 0.3532 Uncertain 12_118821801_T->- 12 118821801 118821801 T - indel 315.73 0/1 99 47 20 27 0.57 intronic rs113340474 SUDS3 AU NM_022491 exon3 c.7320-15delT 0.250799 0.3899 0.2513 0.4738 Uncertain 12_118827781_G->A 12 118827781 118827781 G A snp 1904.77 0/1 99 121 45 76 0.63 intronic rs2271007 SUDS3 AU NM_022491 exon5 c.13255+30G>A 0.121605 0.2897 0.037290 0.0599 0.2523 Uncertain 12_119540203_G->A 12 119540203 119540203 G A snp 697.77 1/1 51 24 0 24 1.0 intronic rs73213730 SRRM4 AU NM_194286 exon2 c.120500+16G>A 0.0884585 0.0972 0.069931 0.0840 0.1166 Uncertain 12_119551975_A->G 12 119551975 119551975 A G snp 258.8 1/1 21 7 0 7 1.0 intronic rs67353211 SRRM4 AU NM_194286 exon3 c.132395-107A>G 0.117013 0.0972 Uncertain 12_119552016_C->T 12 119552016 119552016 C T snp 667.77 1/1 48 25 0 25 1.0 intronic rs67382838 SRRM4 AU NM_194286 exon3 c.132395-66C>T 0.116813 0.0972 Uncertain 12_119554850_G->C 12 119554850 119554850 G C snp 1218.77 1/1 90 44 0 44 1.0 intronic rs78853017 SRRM4 AU NM_194286 exon4 c.135126+37G>C 0.0473243 0.0933 0.014224 0.0420 0.1007 Uncertain 12_119560101_-->AGGC 12 119560101 119560101 - AGGC indel 256.73 0/1 99 14 4 10 0.71 intronic rs752030436 SRRM4 AU NM_194286 exon6 c.140238+176insAGGC Uncertain 12_119562953_T->C 12 119562953 119562953 T C snp 43.77 0/1 70 4 2 2 0.5 intronic rs7314993 SRRM4 AU NM_194286 exon7 c.143498-232T>C 0.571286 0.5873 Uncertain 12_119563064_A->G 12 119563064 119563064 A G snp 926.77 0/1 99 94 57 37 0.39 intronic rs7311828 SRRM4 AU NM_194286 exon7 c.143498-121A>G 0.470647 0.5605 Uncertain 12_119563084_C->G 12 119563084 119563084 C G snp 1402.77 0/1 99 132 75 57 0.43 intronic rs7296134 SRRM4 AU NM_194286 exon7 c.143498-101C>G 0.711661 0.7321 Uncertain 12_119563288_-->C 12 119563288 119563288 - C indel 1107.73 0/1 99 99 53 46 0.46 splicing rs34186549 SRRM4 AU NM_194286 exon7 c.143597+4insC 0.470647 0.5605 0.431161 0.4848 0.5571 Pathogenic 12_119563372_C->G 12 119563372 119563372 C G snp 134.77 0/1 99 12 6 6 0.5 intronic rs58198276 SRRM4 AU NM_194286 exon7 c.143597+88C>G 0.154553 0.1488 Uncertain 12_119568421_C->G 12 119568421 119568421 C G snp 191.77 0/1 99 13 5 8 0.62 intronic rs7298308 SRRM4 AU NM_194286 exon8 c.148795-61C>G 0.571685 0.5883 Uncertain 12_119568670_C->A 12 119568670 119568670 C A snp 1383.77 0/1 99 118 54 64 0.54 intronic rs7298583 SRRM4 AU NM_194286 exon8 c.148952+31C>A 0.571885 0.5883 0.547888 0.5742 0.5806 Uncertain 12_119568691_A->G 12 119568691 119568691 A G snp 1283.77 0/1 99 101 49 52 0.51 intronic rs4298970 SRRM4 AU NM_194286 exon8 c.148952+52A>G 0.71226 0.7331 0.688330 Uncertain 12_119591176_-->C 12 119591176 119591176 - C indel 196.73 0/1 99 17 10 7 0.41 intronic rs34002484 SRRM4 AU NM_194286 exon11 c.171656-167insC 0.635783 0.5377 Uncertain 12_119651456_TTTTA->- 12 119651456 119651460 TTTTA - indel 4568.73 0/1 99 117 49 68 0.58 intergenic rs147859603 HSPB8 AD 0.0922524 0.1448 0.0770 0.0985 Uncertain 12_119871387_A->G 12 119871387 119871387 A G snp 4819.77 1/1 99 181 0 181 1.0 intronic rs1716471 CCDC60 AU NM_178499 exon2 c.93586+4820A>G 0.635783 0.7212 0.6692 0.8071 0.0 P -0.988 T Uncertain 12_119871493_G->A 12 119871493 119871493 G A snp 1709.77 1/1 99 53 0 53 1.0 intronic rs1716470 CCDC60 AU NM_178499 exon2 c.93586+4926G>A 0.635583 0.7212 Uncertain 12_119871533_T->C 12 119871533 119871533 T C snp 682.77 1/1 51 19 0 19 1.0 intronic rs1727388 CCDC60 AU NM_178499 exon2 c.93586+4966T>C 0.635583 0.7212 Uncertain 12_119937983_A->C 12 119937983 119937983 A C snp 686.77 1/1 51 28 0 28 1.0 intronic rs482802 CCDC60 AU NM_178499 exon6 c.164992+10A>C 0.824481 0.8651 0.750346 0.7497 0.8677 Uncertain 12_119958068_T->C 12 119958068 119958068 T C snp 1220.77 1/1 93 37 0 37 1.0 intronic rs573590 CCDC60 AU NM_178499 exon9 c.185016+71T>C 0.83766 0.8938 Uncertain 12_119960838_C->G 12 119960838 119960838 C G snp 939.77 0/1 99 97 56 41 0.42 intronic rs2239904 CCDC60 AU NM_178499 exon10 c.187825+32C>G 0.15615 0.2192 0.122789 0.1349 0.2411 Uncertain 12_120067561_T->C 12 120067561 120067561 T C snp 1371.77 1/1 99 41 0 41 1.0 exonic rs2301653 TMEM233 AU synonymous SNV NM_001136534 exon2 c.T207C p.D69D 0.730232 0.627 0.803110 0.7797 0.6747 Uncertain 12_120067727_C->T 12 120067727 120067727 C T snp 5895.77 1/1 99 214 0 214 1.0 intronic rs2301654 TMEM233 AU NM_001136534 exon2 c.36024+50C>T 0.716853 0.626 0.787998 0.7778 0.6741 Uncertain 12_120067864_G->A 12 120067864 120067864 G A snp 2953.77 1/1 99 105 0 105 1.0 intronic rs2893805 TMEM233 AU NM_001136534 exon2 c.36024+187G>A 0.717252 0.627 Uncertain 12_120078577_T->C 12 120078577 120078577 T C snp 2070.77 1/1 99 77 0 77 1.0 UTR3 rs2301655 TMEM233 AU 0.70607 0.6458 0.801358 Uncertain 12_120158203_C->T 12 120158203 120158203 C T snp 3561.77 1/1 99 131 0 131 1.0 intronic rs7299963 CIT AU NM_007174 exon19 c.32246-79C>T 0.60643 0.5466 Uncertain 12_120171995_T->C 12 120171995 120171995 T C snp 4746.77 1/1 99 161 0 161 1.0 exonic rs278109 CIT AU synonymous SNV NM_001206999 exon26 c.A3324G p.R1108R 0.791733 0.5526 0.858066 0.8062 0.5358 1.0 P -1.038 T Likely benign 12_120189879_A->G 12 120189879 120189879 A G snp 356.78 1/1 27 12 0 12 1.0 exonic rs904655 CIT AU synonymous SNV NM_001206999 exon23 c.T2880C p.A960A 0.599441 0.5675 0.571582 0.5723 0.5466 1.000 P -0.934 T Likely benign 12_120189888_T->C 12 120189888 120189888 T C snp 316.78 1/1 24 11 0 11 1.0 exonic rs904654 CIT AU synonymous SNV NM_001206999 exon23 c.A2871G p.T957T 0.538538 0.5665 0.487775 0.5310 0.5464 1.000 P -0.971 T Likely benign 12_120196296_A->- 12 120196296 120196296 A - indel 302.75 1/1 24 8 0 8 1.0 intronic rs35168868 CIT AU NM_007174 exon28 c.70358-98delA 0.451677 0.5139 Uncertain 12_120205095_T->G 12 120205095 120205095 T G snp 141.03 1/1 12 4 0 4 1.0 intronic rs203327 CIT AU NM_007174 exon30 c.78950+109T>G 0.803514 0.5565 Uncertain 12_120220282_A->G 12 120220282 120220282 A G snp 820.77 1/1 63 23 0 23 1.0 intronic rs440299 CIT AU NM_007174 exon35 c.94285-39A>G 0.438898 0.4335 0.431724 0.4704 0.3985 Uncertain 12_120220589_C->T 12 120220589 120220589 C T snp 897.77 1/1 66 27 0 27 1.0 intronic rs385959 CIT AU NM_007174 exon35 c.94405+148C>T 0.441693 0.4315 Uncertain 12_120270528_T->C 12 120270528 120270528 T C snp 3111.77 1/1 99 96 0 96 1.0 intronic rs4767849 CIT AU NM_007174 exon41 c.144538-46T>C 0.652157 0.8442 0.576657 0.6598 0.8377 Uncertain 12_120499446_-->G 12 120499446 120499446 - G indel 2151.73 0/1 99 116 55 61 0.53 intronic rs11431036 CCDC64 AU NM_207311 exon3 c.71841-67insG 0.280751 0.4038 Uncertain 12_120502726_A->G 12 120502726 120502726 A G snp 605.77 0/1 99 44 17 27 0.61 intronic rs2286040 CCDC64 AU NM_207311 exon4 c.75011+43A>G 0.214257 0.4038 0.108578 0.1644 0.4086 Uncertain 12_120527599_T->C 12 120527599 120527599 T C snp 74.77 0/1 98 6 3 3 0.5 intronic rs17841967 CCDC64 AU NM_207311 exon8 c.100082-155T>C 0.209665 0.4028 Uncertain 12_120537042_C->G 12 120537042 120537042 C G snp 524.77 0/1 99 37 21 16 0.43 intronic rs7971249 RAB35 AU NM_006861 exon3 c.1910+84C>G 0.442492 0.4901 Uncertain 12_120568880_T->C 12 120568880 120568880 T C snp 1003.77 0/1 99 69 34 35 0.51 intronic rs183528414 GCN1L1 AU NM_006836 exon4 c.3336-108T>C 0.00559105 0.0268 Uncertain 12_120575549_A->C 12 120575549 120575549 A C snp 6823.77 1/1 99 248 0 248 1.0 exonic rs3864938 GCN1L1 AU nonsynonymous SNV NM_006836 exon49 c.T6463G p.Y2155D 0.999401 1 0.997803 0.9987 1 0.41 T 0.020 P -0.937 T 0.0 T 0.0 T Pathogenic 12_120576265_T->C 12 120576265 120576265 T C snp 1383.77 0/1 99 126 67 59 0.47 intronic rs2269940 GCN1L1 AU NM_006836 exon12 c.10567+46T>C 0.249401 0.4623 0.182034 0.1961 0.4916 Uncertain 12_120586193_A->C 12 120586193 120586193 A C snp 1496.77 0/1 99 137 75 62 0.45 intronic rs2240317 GCN1L1 AU NM_006836 exon22 c.20498+43A>C 0.344249 0.5565 0.244001 0.2279 0.5854 Uncertain 12_120587225_C->T 12 120587225 120587225 C T snp 65.77 0/1 94 11 8 3 0.27 intronic rs2269942 GCN1L1 AU NM_006836 exon23 c.21757-184C>T 0.198882 0.4425 Uncertain 12_120587226_A->C 12 120587226 120587226 A C snp 65.77 0/1 94 11 8 3 0.27 intronic rs2269943 GCN1L1 AU NM_006836 exon23 c.21757-183A>C 0.204473 0.4435 Uncertain 12_120588852_A->G 12 120588852 120588852 A G snp 2547.77 1/1 99 103 0 103 1.0 intronic rs4503602 GCN1L1 AU NM_006836 exon25 c.23296-96A>G 0.914537 0.997 Uncertain 12_120589064_G->C 12 120589064 120589064 G C snp 1174.77 0/1 99 110 55 55 0.5 exonic rs2286045 GCN1L1 AU synonymous SNV NM_006836 exon34 c.C4194G p.A1398A 0.382388 0.5427 0.289998 0.2360 0.5726 Uncertain 12_120589160_A->G 12 120589160 120589160 A G snp 653.77 0/1 99 61 34 27 0.44 exonic rs2286046 GCN1L1 AU synonymous SNV NM_006836 exon34 c.T4098C p.L1366L 0.909345 0.9851 0.841002 0.8346 0.9845 Uncertain 12_120591044_G->A 12 120591044 120591044 G A snp 1109.77 0/1 99 112 67 45 0.4 exonic rs560131337 GCN1L1 AU synonymous SNV NM_006836 exon33 c.C4035T p.I1345I 0.000199681 0.001 9.15e-05 0 ID=COSM935867;OCCURENCE=1(endometrium) Uncertain 12_120591143_A->G 12 120591143 120591143 A G snp 3531.77 0/1 99 250 118 132 0.53 exonic rs12312562 GCN1L1 AU synonymous SNV NM_006836 exon33 c.T3936C p.Y1312Y 0.341853 0.5546 0.238660 0.2237 0.5823 Uncertain 12_120591251_C->T 12 120591251 120591251 C T snp 2566.77 0/1 99 240 133 107 0.45 intronic rs10735071 GCN1L1 AU NM_006836 exon26 c.25559+40C>T 0.907548 0.9851 0.834263 0.8327 0.9853 Uncertain 12_120596609_G->C 12 120596609 120596609 G C snp 96.28 1/1 9 3 0 3 1.0 intronic rs2240319 GCN1L1 AU NM_006836 exon34 c.30767+190G>C 0.288339 0.5655 Uncertain 12_120602078_T->G 12 120602078 120602078 T G snp 1575.77 0/1 99 165 102 63 0.38 intronic rs2286049 GCN1L1 AU NM_006836 exon41 c.36487-61T>G 0.335663 0.5665 Uncertain 12_120606163_T->C 12 120606163 120606163 T C snp 1328.77 0/1 99 91 43 48 0.53 intronic rs6490286 GCN1L1 AU NM_006836 exon43 c.40452+59T>C 0.907548 0.9851 Uncertain 12_120608031_A->G 12 120608031 120608031 A G snp 2220.77 0/1 99 187 93 94 0.5 exonic rs2286050 GCN1L1 AU synonymous SNV NM_006836 exon15 c.T1461C p.T487T 0.288938 0.5655 0.188847 0.2107 0.5903 Uncertain 12_120612930_AA->- 12 120612930 120612931 AA - indel 171.87 0/1 15 16 2 14 0.88 intronic rs58560211 GCN1L1 AU NM_006836 exon47 c.47312-34_47312-33delAA 0.0035 0.0070 Uncertain 12_120613428_C->T 12 120613428 120613428 C T snp 111.77 0/1 95 7 3 4 0.57 intronic rs2286051 GCN1L1 AU NM_006836 exon48 c.47896-120C>T 0.335863 0.5665 Uncertain 12_120614093_C->T 12 120614093 120614093 C T snp 774.77 0/1 99 62 29 33 0.53 intronic rs2269945 GCN1L1 AU NM_006836 exon49 c.48368+73C>T 0.28095 0.5655 Uncertain 12_120622885_A->C 12 120622885 120622885 A C snp 168.77 0/1 99 20 13 7 0.35 intronic rs12306075 GCN1L1 AU NM_006836 exon56 c.57038+195A>C 0.296526 0.5685 Uncertain 12_120628028_A->- 12 120628028 120628028 A - indel 121.73 0/1 56 20 6 14 0.7 intronic rs60071039 GCN1L1 AU NM_006836 exon57 c.62448-72delA Uncertain 12_120636205_A->C 12 120636205 120636205 A C snp 61.77 0/1 90 14 9 5 0.36 intronic rs78225008 RPLP0 AU NM_001002 exon3 c.1781-151A>C Uncertain 12_120636549_C->A 12 120636549 120636549 C A snp 842.77 0/1 99 96 57 39 0.41 intronic rs2074540 RPLP0 AU NM_001002 exon3 c.1967+7C>A 0.326278 0.5625 0.240966 0.2216 0.5834 Uncertain 12_120637474_C->T 12 120637474 120637474 C T snp 175.77 0/1 99 17 10 7 0.41 intronic rs6490287 RPLP0 AU NM_001002 exon6 c.2713+186C>T 0.726438 0.9841 Uncertain 12_120661977_T->C 12 120661977 120661977 T C snp 1116.77 0/1 99 90 46 44 0.49 exonic rs4767884 PXN AU nonsynonymous SNV NM_001080855 exon2 c.A217G p.S73G 0.900759 0.9851 0.830225 0.8462 0.9863 0.84 T 0.0 P -0.992 T 0.0 T 0.0 T Pathogenic 12_120720038_T->C 12 120720038 120720038 T C snp 1005.77 0/1 99 91 46 45 0.49 intergenic rs7960743 PXN AU 0.83127 0.8839 Uncertain 12_120750239_A->G 12 120750239 120750239 A G snp 919.77 0/1 99 82 44 38 0.46 intronic rs2261612 SIRT4 AU NM_012240 exon3 c.8894-19A>G 0.684904 0.495 0.715055 0.7054 0.4565 Uncertain 12_120762765_C->T 12 120762765 120762765 C T snp 1473.77 0/1 99 145 80 65 0.45 exonic rs5637 PLA2G1B AU synonymous SNV NM_000928 exon3 c.G294A p.S98S 0.210863 0.0794 0.231662 0.1614 0.0772 Uncertain 12_120783527_G->A 12 120783527 120783527 G A snp 586.77 0/1 99 46 24 22 0.48 intronic rs1076205 MSI1 AU NM_002442 exon2 c.42+92G>A 0.627995 0.4395 Uncertain 12_120783561_T->C 12 120783561 120783561 T C snp 256.77 0/1 99 29 16 13 0.45 intronic rs1076206 MSI1 AU NM_002442 exon2 c.42+126T>C 0.720847 0.5843 Uncertain 12_120791197_G->A 12 120791197 120791197 G A snp 531.77 0/1 99 46 22 24 0.52 intronic rs2285679 MSI1 AU NM_002442 exon6 c.7789+15G>A 0.181909 0.4464 0.121252 0.1540 0.4652 Uncertain 12_120794653_T->C 12 120794653 120794653 T C snp 900.77 0/1 99 79 46 33 0.42 intronic rs1179441 MSI1 AU NM_002442 exon7 c.11311-51T>C 0.729034 0.5466 0.737879 Uncertain 12_120796703_T->A 12 120796703 120796703 T A snp 359.77 0/1 99 26 12 14 0.54 intronic rs1179445 MSI1 AU NM_002442 exon9 c.13414-104T>A 0.718051 0.5427 Uncertain 12_120800696_T->A 12 120800696 120800696 T A snp 71.77 0/1 99 13 10 3 0.23 intronic rs1557769 MSI1 AU NM_002442 exon10 c.17452-149T>A 0.157548 0.0774 Uncertain 12_120800823_A->G 12 120800823 120800823 A G snp 1606.77 1/1 99 59 0 59 1.0 intronic rs757123 MSI1 AU NM_002442 exon10 c.17452-22A>G 0.925319 0.999 0.871213 0.8886 0.9997 Uncertain 12_120806129_-->T 12 120806129 120806129 - T indel 683.73 0/1 99 55 30 25 0.45 intronic rs111293994 MSI1 AU NM_002442 exon13 c.22683+53insT 0.746006 0.5724 0.780964 Uncertain 12_120806706_C->G 12 120806706 120806706 C G snp 2756.77 0/1 99 236 113 123 0.52 intronic rs11065094 MSI1 AU NM_002442 exon14 c.23283+30C>G 0.15635 0.0724 0.115584 0.2235 0.1345 Uncertain 12_120882836_AC->- 12 120882836 120882837 AC - indel 322.73 0/1 99 31 19 12 0.39 intronic rs369796877 TRIAP1 AU NM_016399 exon1 c.84+78_84+79delAC 0.259385 0.4901 Uncertain 12_120884328_C->T 12 120884328 120884328 C T snp 2537.77 0/1 99 229 116 113 0.49 exonic rs2235217 GATC AU synonymous SNV NM_176818 exon1 c.C45T p.G15G 0.259385 0.4901 0.244962 0.2990 0.5007 Uncertain 12_120884571_G->T 12 120884571 120884571 G T snp 1425.77 0/1 99 131 72 59 0.45 exonic rs146903010 GATC AU nonsynonymous SNV NM_176818 exon2 c.G193T p.D65Y 0.00359425 0.0179 0.0005 0.0064 0 D 1.000 D -0.350 T 0.994 D 0.95 D Pathogenic 12_120897652_T->C 12 120897652 120897652 T C snp 875.77 1/1 66 25 0 25 1.0 intronic rs28390349 GATC AU NM_176818 exon4 c.13426-57T>C 0.744409 0.7391 0.738940 Uncertain 12_120903610_C->A 12 120903610 120903610 C A snp 375.77 0/1 99 26 12 14 0.54 intronic rs75905531 SRSF9 AU NM_003769 exon3 c.3769+20C>A 0.141773 0.3621 0.056675 0.1217 0.3553 Uncertain 12_120907271_G->T 12 120907271 120907271 G T snp 1057.77 0/1 99 113 65 48 0.42 exonic rs11548262 SRSF9 AU synonymous SNV NM_003769 exon1 c.C142A p.R48R 0.0738818 0.0794 0.080963 0.0988 0.0661 1.000 P -1.027 T Likely benign 12_120934407_C->T 12 120934407 120934407 C T snp 2512.77 0/1 99 242 130 112 0.46 intronic rs1563333 DYNLL1 AU NM_003746 exon2 c.132+51C>T 0.303514 0.495 0.272420 0.3118 0.5031 Uncertain 12_120941927_C->T 12 120941927 120941927 C T snp 328.77 0/1 99 22 11 11 0.5 intronic rs7136951 COQ5 AU NM_032314 exon2 c.298+43C>T 0.303115 0.4921 0.276358 0.3117 0.5062 Uncertain 12_120942911_G->C 12 120942911 120942911 G C snp 537.77 0/1 99 36 16 20 0.56 intronic rs4766966 COQ5 AU NM_032314 exon3 c.1200+125G>C 0.303514 0.4931 Uncertain 12_120947788_G->C 12 120947788 120947788 G C snp 1603.77 0/1 99 136 70 66 0.49 intronic rs4766968 COQ5 AU NM_032314 exon4 c.6233-31G>C 0.264377 0.4911 0.246348 0.2996 0.5037 Uncertain 12_120947948_G->A 12 120947948 120947948 G A snp 5845.77 1/1 99 222 0 222 1.0 intronic rs500003 COQ5 AU NM_032314 exon4 c.6340+22G>A 0.940895 0.877 0.984930 0.9762 0.8803 Uncertain 12_120954490_C->T 12 120954490 120954490 C T snp 2653.77 0/1 99 250 133 117 0.47 exonic rs3742049 COQ5 AU nonsynonymous SNV NM_032314 exon3 c.G454A p.A152T 0.144569 0.0794 0.156774 0.1184 0.0651 0.15 T 1.000 P -1.071 T 0.051 T 0.03 T Pathogenic 12_120964043_T->C 12 120964043 120964043 T C snp 93.28 1/1 9 3 0 3 1.0 intronic rs1614223 COQ5 AU NM_032314 exon7 c.25156-2699T>C 0.782748 0.8393 Uncertain 12_120966659_G->A 12 120966659 120966659 G A snp 1606.77 0/1 99 74 22 52 0.7 intronic rs55848094 COQ5 AU NM_032314 exon7 c.25156-83G>A 0.264577 0.4921 Uncertain 12_120966921_A->G 12 120966921 120966921 A G snp 1252.77 0/1 99 107 55 52 0.49 exonic rs3742052 COQ5 AU synonymous SNV NM_032314 exon1 c.T24C p.A8A 0.264577 0.4921 0.241809 0.3070 0.5079 Uncertain 12_120990582_A->C 12 120990582 120990582 A C snp 71.77 0/1 99 7 4 3 0.43 intronic rs12309824 RNF10 AU NM_014868 exon3 c.17887+81A>C 0.261581 0.4911 Uncertain 12_120992401_C->T 12 120992401 120992401 C T snp 834.77 0/1 99 69 33 36 0.52 intronic rs3213565 RNF10 AU NM_014868 exon4 c.19906-119C>T 0.266174 0.4901 Uncertain 12_120994932_G->A 12 120994932 120994932 G A snp 930.77 1/1 36 27 1 26 0.96 intronic rs7956998 RNF10 AU NM_014868 exon5 c.22470-152G>A 0.785144 0.8403 Uncertain 12_120995332_G->A 12 120995332 120995332 G A snp 2374.77 0/1 99 196 93 103 0.53 intronic rs2292681 RNF10 AU NM_014868 exon6 c.22734-16G>A 0.523363 0.749 0.504459 0.6183 0.7718 Uncertain 12_120998443_A->G 12 120998443 120998443 A G snp 574.77 0/1 99 47 21 26 0.55 intronic rs603574 RNF10 AU NM_014868 exon7 c.25914-85A>G 0.269569 0.4931 Uncertain 12_120998481_G->A 12 120998481 120998481 G A snp 2200.77 1/1 99 80 0 80 1.0 intronic rs787949 RNF10 AU NM_014868 exon7 c.25914-47G>A 0.96865 0.999 0.975780 0.9897 0.9994 Uncertain 12_121004565_AA->- 12 121004565 121004566 AA - indel 251.52 1/1 7 15 1 14 0.93 intronic rs35194242 RNF10 AU NM_014868 exon13 c.32013-62_32013-61delAA Uncertain 12_121004590_C->A 12 121004590 121004590 C A snp 533.77 0/1 99 40 16 24 0.6 intronic rs546417 RNF10 AU NM_014868 exon13 c.32013-37C>A 0.249577 0.3020 0.5045 Uncertain 12_121008958_G->A 12 121008958 121008958 G A snp 1087.77 0/1 99 152 103 49 0.32 intronic rs2280168 RNF10 AU NM_014868 exon14 c.36379-35G>A 0.220847 0.0794 0.235584 0.1402 0.0656 Uncertain 12_121009198_C->T 12 121009198 121009198 C T snp 419.77 0/1 99 29 12 17 0.59 intronic rs651627 RNF10 AU NM_014868 exon14 c.36480+104C>T 0.264577 0.4931 Uncertain 12_121012456_C->T 12 121012456 121012456 C T snp 46.77 0/1 64 5 2 3 0.6 intronic rs11611781 RNF10 AU NM_014868 exon15 c.40819-977C>T 0.201677 0.0794 Uncertain 12_121017171_A->G 12 121017171 121017171 A G snp 2135.77 1/1 99 71 0 71 1.0 exonic rs7174 POP5 AU synonymous SNV NM_198202 exon4 c.T292C p.L98L 0.786542 0.8413 0.783408 0.8147 0.8413 Uncertain 12_121017243_A->C 12 121017243 121017243 A C snp 1899.77 0/1 99 154 74 80 0.52 intronic rs509445 POP5 AU NM_198202 exon1 c.95+28A>C 0.266973 0.494 0.249654 0.3000 0.5050 Uncertain 12_121017439_A->G 12 121017439 121017439 A G snp 3523.77 1/1 99 113 1 112 0.99 intronic rs563920 POP5 AU NM_198202 exon2 c.280+39A>G 0.785144 0.8413 0.782101 0.8146 0.8413 Uncertain 12_121017475_T->- 12 121017475 121017475 T - indel 1655.73 0/1 99 97 51 46 0.47 intronic rs3833953 POP5 AU NM_198202 exon2 c.280+75delT 0.266773 0.494 Uncertain 12_121019323_T->C 12 121019323 121019323 T C snp 326.78 1/1 27 10 0 10 1.0 upstream rs591992 POP5 AU 0.786142 0.8413 Uncertain 12_121093622_GTGC->- 12 121093622 121093625 GTGC - indel 3738.73 1/1 99 95 0 95 1.0 intronic rs201880849 CABP1 AU NM_031205 exon2 c.5455-273_5455-270delGTGC 0.392971 0.372 0.1018 0.0263 Uncertain 12_121093632_GC->- 12 121093632 121093633 GC - indel 3207.73 0/1 99 114 14 100 0.88 intronic rs200201544 CABP1 AU NM_031205 exon2 c.5455-263_5455-262delGC 0.157748 0.2758 0.2996 0.4754 Uncertain 12_121093655_C->T 12 121093655 121093655 C T snp 1902.77 0/1 99 154 78 76 0.49 intronic rs55819450 CABP1 AU NM_031205 exon2 c.5455-240C>T 0.169728 0.3234 0.1189 0.3093 Uncertain 12_121094087_G->T 12 121094087 121094087 G T snp 261.77 0/1 99 19 11 8 0.42 intronic rs3809311 CABP1 AU NM_031205 exon2 c.5635+12G>T 0.091853 0.2877 0.021763 0.0489 0.2804 Uncertain 12_121097573_G->T 12 121097573 121097573 G T snp 476.77 0/1 99 42 22 20 0.48 intronic rs7302002 CABP1 AU NM_004276 exon2 c.9240-107G>T 0.0950479 0.2837 Uncertain 12_121097622_G->A 12 121097622 121097622 G A snp 2207.77 1/1 99 82 1 81 0.99 intronic rs529584 CABP1 AU NM_004276 exon2 c.9240-58G>A 0.917732 0.8571 0.899912 Uncertain 12_121098191_C->T 12 121098191 121098191 C T snp 1747.77 0/1 99 136 74 62 0.46 intronic rs11065193 CABP1 AU NM_004276 exon3 c.9702+49C>T 0.0738818 0.2847 0.009534 0.0345 0.2516 Uncertain 12_121099149_T->C 12 121099149 121099149 T C snp 41.77 0/1 66 4 2 2 0.5 intronic rs10774565 CABP1 AU NM_004276 exon5 c.10581+128T>C 0.174321 0.2857 Uncertain 12_121131891_C->T 12 121131891 121131891 C T snp 1068.77 0/1 99 91 40 51 0.56 splicing rs2393749 MLEC AU NM_014730 exon2 c.6794-2C>T 0.5625 0.5248 0.493926 0.4599 0.4888 Pathogenic 12_121132100_C->T 12 121132100 121132100 C T snp 266.77 0/1 99 20 8 12 0.6 intronic rs7964786 MLEC AU NM_014730 exon2 c.6973+28C>T 0.5627 0.5248 0.494003 0.4400 0.4716 Uncertain 12_121133037_G->C 12 121133037 121133037 G C snp 1033.77 1/1 75 34 0 34 1.0 intronic rs504403 MLEC AU NM_014730 exon4 c.7856+82G>C 0.772364 0.7202 Uncertain 12_121154624_T->G 12 121154624 121154624 T G snp 2824.77 0/1 99 231 119 112 0.48 intronic rs476676 UNC119B AU NM_001080533 exon4 c.6395-48T>G 0.0465256 0.0288 0.038059 0.0266 0.0495 Uncertain 12_121163518_C->A 12 121163518 121163518 C A snp 192.77 0/1 99 12 4 8 0.67 upstream rs2239760 ACADS AR 0.427716 0.376 Uncertain 12_121174899_T->C 12 121174899 121174899 T C snp 4486.77 1/1 99 166 0 166 1.0 exonic rs3914 ACADS AR synonymous SNV NM_000017 exon3 c.T321C p.R107R 0.590655 0.5655 0.506770 0.5706 0.5701 CLINSIG=non-pathogenic;CLNDBN=not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000123476.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Uncertain 12_121174938_C->T 12 121174938 121174938 C T snp 1512.77 0/1 99 133 67 66 0.5 exonic rs76543640 ACADS AR synonymous SNV NM_000017 exon3 c.C360T p.N120N 0.0760783 0.2986 0.006937 0.0560 0.3300 ID=COSM1359402;OCCURENCE=1(large_intestine) Uncertain 12_121175524_T->C 12 121175524 121175524 T C snp 251.77 0/1 99 16 8 8 0.5 intronic rs2014355 ACADS AR NM_000017 exon5 c.11951-115T>C 0.189896 0.1052 Uncertain 12_121175984_T->C 12 121175984 121175984 T C snp 3442.77 1/1 99 119 0 119 1.0 intronic rs555404 ACADS AR NM_001302554 exon5 c.12303-7T>C 0.59385 0.5655 0.5782 0.5935 0.04 T 0.0 P -0.962 T 0.0 T 0.0 T Uncertain 12_121176083_G->A 12 121176083 121176083 G A snp 1695.77 0/1 99 167 96 71 0.43 exonic rs1799958 ACADS AR nonsynonymous SNV NM_000017 exon6 c.G625A p.G209S 0.182308 0.1052 0.196832 0.2592 0.1198 1.000 P -2.006 T 0.909 T 0.757 D CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000077896.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 ID=CM980010;DIS=Ethylmalonic aciduria, association with;TAG=DFP;PUB=8725270 DFP Pathogenic 12_121176293_C->T 12 121176293 121176293 C T snp 1676.77 0/1 99 162 92 70 0.43 intronic rs17848090 ACADS AR NM_001302554 exon6 c.12565+40C>T 0.0754792 0.2986 0.006771 0.0352 0.2572 Uncertain 12_121176679_C->T 12 121176679 121176679 C T snp 4107.77 1/1 99 153 0 153 1.0 exonic rs3915 ACADS AR synonymous SNV NM_000017 exon8 c.C990T p.R330R 0.673123 0.5655 0.591958 0.5453 0.5283 CLINSIG=non-pathogenic;CLNDBN=not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000123477.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Uncertain 12_121176770_C->T 12 121176770 121176770 C T snp 1065.77 0/1 99 78 38 40 0.51 intronic rs2071266 ACADS AR NM_001302554 exon8 c.13030+52C>T 0.0750799 0.2956 0.005393 0.0354 0.2539 Uncertain 12_121177272_G->C 12 121177272 121177272 G C snp 173.77 0/1 99 15 9 6 0.4 UTR3 rs3916 ACADS AR 0.193291 0.1181 0.197920 0.2723 0.1466 Uncertain 12_121202952_A->T 12 121202952 121202952 A T snp 313.77 0/1 99 38 23 15 0.39 intronic rs6490303 SPPL3 AU NM_139015 exon1 c.72+79A>T 0.279353 0.373 Uncertain 12_121204368_G->C 12 121204368 121204368 G C snp 157.77 0/1 99 12 5 7 0.58 intronic rs3213571 SPPL3 AU NM_139015 exon2 c.1374+193G>C 0.299121 0.4444 Uncertain 12_121206055_T->A 12 121206055 121206055 T A snp 297.78 1/1 24 8 0 8 1.0 intronic rs586305 SPPL3 AU NM_139015 exon4 c.3326-72T>A 0.86881 0.8839 Uncertain 12_121206494_G->A 12 121206494 121206494 G A snp 216.84 1/1 18 6 0 6 1.0 intronic rs697859 SPPL3 AU NM_139015 exon4 c.3490+203G>A 0.869409 0.8839 Uncertain 12_121220375_G->C 12 121220375 121220375 G C snp 46.77 0/1 33 3 1 2 0.67 intronic rs2393717 SPPL3 AU NM_139015 exon6 c.17656-82G>C 0.429712 0.4375 Uncertain 12_121221628_C->T 12 121221628 121221628 C T snp 262.77 0/1 99 20 9 11 0.55 intronic rs7137504 SPPL3 AU NM_139015 exon7 c.18754+73C>T 0.366613 0.4306 Uncertain 12_121222411_C->G 12 121222411 121222411 C G snp 1011.77 0/1 99 119 70 49 0.41 intronic rs3213570 SPPL3 AU NM_139015 exon8 c.19595+15C>G 0.366813 0.4306 0.361141 0.4863 0.4663 Uncertain 12_121222469_T->C 12 121222469 121222469 T C snp 1047.77 0/1 99 77 33 44 0.57 intronic rs3213569 SPPL3 AU NM_139015 exon8 c.19595+73T>C 0.183706 0.3254 Uncertain 12_121222496_C->T 12 121222496 121222496 C T snp 845.77 0/1 99 45 17 28 0.62 intronic rs3213568 SPPL3 AU NM_139015 exon8 c.19595+100C>T 0.298722 0.4435 Uncertain 12_121222556_T->C 12 121222556 121222556 T C snp 107.77 0/1 99 11 7 4 0.36 intronic rs3213567 SPPL3 AU NM_139015 exon8 c.19595+160T>C 0.429513 0.4375 Uncertain 12_121222578_T->C 12 121222578 121222578 T C snp 68.77 0/1 97 8 5 3 0.38 intronic rs3213566 SPPL3 AU NM_139015 exon8 c.19595+182T>C 0.429513 0.4375 Uncertain 12_121248584_G->A 12 121248584 121248584 G A snp 1780.77 1/1 99 60 0 60 1.0 intronic rs674021 SPPL3 AU NM_139015 exon10 c.45810-27G>A 0.869209 0.8839 0.789636 0.7917 0.8447 Uncertain 12_121341495_C->T 12 121341495 121341495 C T snp 83.77 0/1 69 5 2 3 0.6 intronic rs74416604 SPPL3 AU NM_139015 exon11 c.138846-152C>T 0.131989 0.3254 Uncertain 12_121341762_C->T 12 121341762 121341762 C T snp 73.77 0/1 99 12 6 6 0.5 UTR5 rs7966446 SPPL3 AU 0.280152 0.2212 Uncertain 12_121341849_A->G 12 121341849 121341849 A G snp 88.28 1/1 9 3 0 3 1.0 UTR5 rs2686458 SPPL3 AU 0.960863 1 Uncertain 12_121416622_C->G 12 121416622 121416622 C G snp 2538.77 0/1 99 227 116 111 0.49 exonic rs1169289 HNF1A AU,AD,AR synonymous SNV NM_000545 exon1 c.C51G p.L17L 0.428514 0.3819 0.417475 0.4722 0.3969 CLINSIG=probable-non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=no_assertion_criteria_provided|criteria_provided\x2c_single_submitter;CLNACC=RCV000117231.2|RCV000125369.1;CLNDSDB=MedGen|MedGen;CLNDSDBID=CN169374|CN221809 ID=COSM430521;OCCURENCE=1(breast),1(large_intestine) Uncertain 12_121416650_A->C 12 121416650 121416650 A C snp 2455.77 0/1 99 218 112 106 0.49 exonic rs1169288 HNF1A AU,AD,AR nonsynonymous SNV NM_000545 exon1 c.A79C p.I27L 0.298522 0.3889 0.262498 0.3533 0.4181 0.33 T 1.000 P -1.199 T 0.025 T 0.047 T CLINSIG=other|other|non-pathogenic;CLNDBN=Insulin_resistance\x2c_susceptibility_to|Serum_hdl_cholesterol_level\x2c_modifier_of|not_provided;CLNREVSTAT=no_assertion_criteria_provided|no_assertion_criteria_provided|criteria_provided\x2c_single_submitter;CLNACC=RCV000016074.1|RCV000016075.25|RCV000125370.1;CLNDSDB=MedGen|.|MedGen;CLNDSDBID=C1852091|.|CN221809 ID=COSM430522;OCCURENCE=1(breast),1(urinary_tract),1(large_intestine) ID=CM001349;DIS=Insulin resistance, association with;TAG=DP;PUB=10852449 DP Pathogenic 12_121416988_A->G 12 121416988 121416988 A G snp 71.77 0/1 99 6 3 3 0.5 intronic rs2244608 HNF1A AU,AD,AR NM_000545 exon1 c.326+91A>G 0.311901 0.3919 Uncertain 12_121426545_G->A 12 121426545 121426545 G A snp 373.77 1/1 30 10 0 10 1.0 intronic rs1169293 HNF1A AU,AD,AR NM_000545 exon2 c.10064-90G>A 0.890775 0.994 Uncertain 12_121426594_G->A 12 121426594 121426594 G A snp 1065.77 0/1 99 69 31 38 0.55 intronic rs1169294 HNF1A AU,AD,AR NM_000545 exon2 c.10064-41G>A 0.315296 0.4008 0.272567 0.3464 0.4153 Uncertain 12_121431225_G->A 12 121431225 121431225 G A snp 77.77 0/1 72 7 4 3 0.43 intronic rs1169300 HNF1A AU,AD,AR NM_000545 exon3 c.14751-97G>A 0.31869 0.4722 Uncertain 12_121431272_T->A 12 121431272 121431272 T A snp 310.77 0/1 99 30 18 12 0.4 intronic rs2071190 HNF1A AU,AD,AR NM_000545 exon3 c.14751-50T>A 0.252396 0.2728 0.242427 0.2354 0.2431 Uncertain 12_121431300_C->T 12 121431300 121431300 C T snp 780.77 0/1 99 54 24 30 0.56 intronic rs1169301 HNF1A AU,AD,AR NM_000545 exon3 c.14751-22C>T 0.31869 0.4732 0.249270 0.3384 0.4969 Uncertain 12_121432302_T->G 12 121432302 121432302 T G snp 1173.77 1/1 87 40 0 40 1.0 intronic rs1169302 HNF1A AU,AD,AR NM_000545 exon4 c.15637+94T>G 0.473243 0.7321 Uncertain 12_121434630_-->TCATTCAT 12 121434630 121434630 - TCATTCAT indel 4966.73 1/1 99 58 0 58 1.0 intronic rs397707647 HNF1A AU,AD,AR NM_000545 exon6 c.17974+85insTCATTCAT 0.7812 0.8598 CLINSIG=untested;CLNDBN=not_specified;CLNREVSTAT=no_assertion_provided;CLNACC=RCV000122357.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 ID=COSM1645167;OCCURENCE=6(breast) Uncertain 12_121434833_G->A 12 121434833 121434833 G A snp 478.77 0/1 99 28 10 18 0.64 intronic rs2259852 HNF1A AU,AD,AR NM_000545 exon6 c.17974+288G>A 0.359824 0.4802 0.4658 0.4643 Uncertain 12_121435342_C->T 12 121435342 121435342 C T snp 1278.77 0/1 99 74 29 45 0.61 exonic rs2259820 HNF1A AU,AD,AR synonymous SNV NM_000545 exon7 c.C1375T p.L459L 0.316693 0.4732 0.246386 0.3368 0.4947 CLINSIG=probable-non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=no_assertion_criteria_provided|criteria_provided\x2c_single_submitter;CLNACC=RCV000117226.2|RCV000125373.1;CLNDSDB=MedGen|MedGen;CLNDSDBID=CN169374|CN221809 ID=COSM3931546;OCCURENCE=1(urinary_tract) Uncertain 12_121435427_G->A 12 121435427 121435427 G A snp 2212.77 0/1 99 163 72 91 0.56 exonic rs2464196 HNF1A AU,AD,AR nonsynonymous SNV NM_000545 exon7 c.G1460A p.S487N 0.317692 0.4732 0.247347 0.3465 0.4999 0.14 T 1.000 P -1.097 T 0.106 T 0.147 T CLINSIG=non-pathogenic;CLNDBN=not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000125374.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 ID=CM067474;DIS=Cadiovascular disease, increased risk, association with;TAG=DP;PUB=20031592 DP Pathogenic 12_121435475_G->A 12 121435475 121435475 G A snp 3323.77 0/1 99 238 106 132 0.55 intronic rs2464195 HNF1A AU,AD,AR NM_000545 exon7 c.18897+7G>A 0.359625 0.4802 0.290065 0.4347 0.5290 0.15 T 0.000 P -1.027 T 0.0 T 0.001 T CLINSIG=probable-non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=no_assertion_criteria_provided|criteria_provided\x2c_single_submitter;CLNACC=RCV000117228.3|RCV000125375.1;CLNDSDB=MedGen|MedGen;CLNDSDBID=CN169374|CN221809 Uncertain 12_121435587_G->T 12 121435587 121435587 G T snp 2791.77 0/1 99 238 115 123 0.52 intronic rs2259816 HNF1A AU,AD,AR NM_000545 exon7 c.18897+119G>T 0.358826 0.4752 0.4492 0.4525 Uncertain 12_121435778_C->T 12 121435778 121435778 C T snp 44.78 0/1 27 3 1 2 0.67 intronic rs56097722 HNF1A AU,AD,AR NM_000545 exon7 c.18897+310C>T 0.158546 0.2708 Uncertain 12_121437221_T->C 12 121437221 121437221 T C snp 5511.77 1/1 99 207 0 207 1.0 intronic rs1169304 HNF1A AU,AD,AR NM_000545 exon8 c.20621+29T>C 0.776957 0.8542 0.743887 0.8145 0.8754 0.000 P -0.976 T CLINSIG=untested;CLNDBN=not_specified;CLNREVSTAT=no_assertion_provided;CLNACC=RCV000122364.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 12_121437382_A->G 12 121437382 121437382 A G snp 1192.77 1/1 87 41 0 41 1.0 exonic rs1169305 HNF1A AU,AD,AR nonsynonymous SNV NM_000545 exon9 c.A1720G p.S574G 0.985224 1 0.986887 0.9958 0.9998 0.73 T 0.002 P -0.950 T 0.0 T 0.0 T CLINSIG=pathogenic,non-pathogenic|untested;CLNDBN=Maturity-onset_diabetes_of_the_young\x2c_type_3,Maturity-onset_diabetes_of_the_young\x2c_type_3|not_specified;CLNREVSTAT=no_assertion_criteria_provided,criteria_provided\x2c_single_submitter|no_assertion_provided;CLNACC=RCV000016077.24,RCV000030490.1|RCV000121200.1;CLNDSDB=MedGen:OMIM:Orphanet,MedGen:OMIM:Orphanet|MedGen;CLNDSDBID=C1838100:600496:ORPHA552,C1838100:600496:ORPHA552|CN169374 ID=CM020516;DIS=Diabetes, type 2, association with;TAG=DFP;PUB=10096793 DFP Pathogenic 12_121438844_T->C 12 121438844 121438844 T C snp 1590.77 0/1 99 130 65 65 0.5 intronic rs735396 HNF1A AU,AD,AR NM_000545 exon10 c.22296-23T>C 0.360224 0.4802 0.292019 0.3884 0.4983 Uncertain 12_121439433_G->A 12 121439433 121439433 G A snp 2600.77 0/1 99 193 95 98 0.51 UTR3 rs1169310 HNF1A AU,AD,AR 0.360024 0.4802 Uncertain 12_121439598_G->A 12 121439598 121439598 G A snp 2178.77 0/1 99 216 120 96 0.44 UTR3 rs11065390 HNF1A AU,AD,AR 0.120008 0.2718 0.0688 0.2101 Uncertain 12_121442199_T->A 12 121442199 121442199 T A snp 1065.77 0/1 99 92 48 44 0.48 exonic rs3751151 C12orf43 AU synonymous SNV NM_001286197 exon5 c.A450T p.T150T 0.258586 0.2748 0.314547 0.2746 0.2401 0.0 P -0.964 T Likely benign 12_121442214_G->A 12 121442214 121442214 G A snp 1023.77 0/1 99 78 41 37 0.47 exonic rs3751150 C12orf43 AU synonymous SNV NM_001286197 exon5 c.C435T p.I145I 0.108826 0.251 0.090958 0.1123 0.2285 1.000 P -1.015 T Likely benign 12_121450165_C->T 12 121450165 121450165 C T snp 614.77 0/1 99 56 32 24 0.43 intronic rs2264750 C12orf43 AU NM_001286198 exon6 c.8277-67C>T 0.318091 0.4732 Uncertain 12_121450354_C->A 12 121450354 121450354 C A snp 1500.77 1/1 99 49 0 49 1.0 UTR5 rs2264778 C12orf43 AU 0.441294 0.747 Uncertain 12_121450384_G->C 12 121450384 121450384 G C snp 956.77 1/1 72 26 0 26 1.0 UTR5 rs2254971 C12orf43 AU 0.479832 0.753 Uncertain 12_121454257_T->A 12 121454257 121454257 T A snp 7647.77 1/1 99 250 1 249 1.0 exonic rs2258227 C12orf43 AU synonymous SNV NM_001286191 exon1 c.A21T p.T7T 0.784744 0.8601 0.748578 0.8157 0.8755 0.000 P -1.031 T Likely benign 12_121454313_C->A 12 121454313 121454313 C A snp 6910.77 1/1 99 243 0 243 1.0 upstream rs2258287 C12orf43 AU 0.452476 0.749 0.330639 0.3952 0.7361 Uncertain 12_121471216_C->G 12 121471216 121471216 C G snp 572.77 0/1 99 40 17 23 0.57 intronic rs3213546 OASL AU NM_198213 exon4 c.9434-47C>G 0.138778 0.2827 0.068738 0.0662 0.2578 Uncertain 12_121471337_G->A 12 121471337 121471337 G A snp 1570.77 0/1 99 166 98 68 0.41 exonic rs3213545 OASL AU synonymous SNV NM_001261825 exon2 c.C408T p.L136L 0.313099 0.4692 0.248347 0.3163 0.4808 Uncertain 12_121593019_C->T 12 121593019 121593019 C T snp 986.77 0/1 99 61 25 36 0.59 intronic rs1718125 P2RX7 AU NM_002562 exon2 c.21983+263C>T 0.234225 0.3333 0.1794 0.3187 Uncertain 12_121593381_A->G 12 121593381 121593381 A G snp 37.77 0/1 66 4 2 2 0.5 intronic rs208289 P2RX7 AU NM_002562 exon3 c.23108-500A>G 0.377596 0.3095 Uncertain 12_121594056_G->A 12 121594056 121594056 G A snp 216.77 0/1 99 18 8 10 0.56 intronic rs208290 P2RX7 AU NM_002562 exon3 c.23177+106G>A 0.467053 0.3899 Uncertain 12_121600180_C->T 12 121600180 121600180 C T snp 1049.77 0/1 99 91 45 46 0.51 intronic rs208293 P2RX7 AU NM_002562 exon5 c.29453-46C>T 0.469249 0.4077 0.426803 0.3410 0.3925 Uncertain 12_121600253_T->C 12 121600253 121600253 T C snp 1436.77 0/1 99 119 59 60 0.5 exonic rs208294 P2RX7 AU nonsynonymous SNV NM_002562 exon5 c.T463C p.Y155H 0.529952 0.4137 0.600261 0.5243 0.3960 0.12 T 1.0 P -1.111 T 0.997 D 0.949 D ID=CM056028;DIS=Altered function;TAG=DFP;PUB=15972634 DFP Pathogenic 12_121613060_G->C 12 121613060 121613060 G C snp 114.77 0/1 99 12 7 5 0.42 intronic rs3751147 P2RX7 AU NM_002562 exon9 c.42417-130G>C 0.163738 0.1617 Uncertain 12_121613090_G->A 12 121613090 121613090 G A snp 158.77 0/1 99 17 10 7 0.41 intronic rs3751146 P2RX7 AU NM_002562 exon9 c.42417-100G>A 0.128594 0.1607 Uncertain 12_121614934_C->T 12 121614934 121614934 C T snp 419.77 0/1 99 33 16 17 0.52 intronic rs7132846 P2RX7 AU NM_002562 exon10 c.44176-15C>T 0.144968 0.1607 0.082423 0.1274 0.1665 Uncertain 12_121615131_C->G 12 121615131 121615131 C G snp 558.77 0/1 99 56 30 26 0.46 exonic rs2230911 P2RX7 AU nonsynonymous SNV NM_002562 exon11 c.C1070G p.T357S 0.164936 0.1677 0.102260 0.1323 0.1674 0.38 T 0.718 P -0.878 T 0.86 T 0.406 P ID=CM060405;DIS=Null allele;TAG=FP;PUB=16263709 FP Pathogenic 12_121622239_C->T 12 121622239 121622239 C T snp 2667.77 0/1 99 199 84 115 0.58 exonic rs3751144 P2RX7 AU synonymous SNV NM_002562 exon13 c.C1422T p.P474P 0.161342 0.1558 0.101492 0.1318 0.1637 Uncertain 12_121622304_A->C 12 121622304 121622304 A C snp 1931.77 0/1 99 183 105 78 0.43 exonic rs3751143 P2RX7 AU nonsynonymous SNV NM_002562 exon13 c.A1487C p.E496A 0.207468 0.2669 0.152699 0.1903 0.2601 0 D 0.939 P -1.050 T 0.998 D 0.995 D ID=CM021316;DIS=Chronic lymphocytic leukaemia, association with;TAG=DFP;PUB=11943260 DFP Pathogenic 12_121622419_G->T 12 121622419 121622419 G T snp 2106.77 0/1 99 182 96 86 0.47 exonic rs3751142 P2RX7 AU synonymous SNV NM_002562 exon13 c.G1602T p.L534L 0.16234 0.1597 0.101353 0.1587 0.2013 Uncertain 12_121622520_A->T 12 121622520 121622520 A T snp 3953.77 1/1 99 141 0 141 1.0 exonic rs1653624 P2RX7 AU nonsynonymous SNV NM_002562 exon13 c.A1703T p.N568I 0.994209 1 0.983421 0.9851 1 1 T 0.000 P -0.993 T 0.0 T 0.0 T ID=CM035029;DIS=Altered function;TAG=FP;PUB=12586825 FP Pathogenic 12_121659684_C->T 12 121659684 121659684 C T snp 1296.77 0/1 99 130 73 57 0.44 intronic rs7298368 P2RX4 AU NM_001256796 exon4 c.11748-31C>T 0.235423 0.3224 0.157773 0.2103 0.2944 Uncertain 12_121659999_G->A 12 121659999 121659999 G A snp 3374.77 0/1 99 225 94 131 0.58 intronic rs1629287 P2RX4 AU NM_001256796 exon5 c.12002+30G>A 0.386981 0.3413 0.355451 0.3587 0.3071 Uncertain 12_121660787_T->C 12 121660787 121660787 T C snp 882.77 0/1 99 93 53 40 0.43 exonic rs25643 P2RX4 AU synonymous SNV NM_002560 exon5 c.T465C p.S155S 0.440296 0.3433 0.452022 0.4545 0.3053 Uncertain 12_121666476_C->T 12 121666476 121666476 C T snp 2502.77 0/1 99 212 100 112 0.53 intronic rs3815989 P2RX4 AU NM_001256796 exon8 c.18560-51C>T 0.176118 0.2371 0.117379 Uncertain 12_121666646_A->G 12 121666646 121666646 A G snp 2590.77 0/1 99 217 116 101 0.47 exonic rs25644 P2RX4 AU nonsynonymous SNV NM_002560 exon7 c.A724G p.S242G 0.176318 0.2371 0.118791 0.1566 0.2378 0.03 T 0.039 P -0.990 T 0.146 T 0.314 T Pathogenic 12_121670194_T->- 12 121670194 121670194 T - indel 2500.73 0/1 99 123 57 66 0.54 intronic rs5801428 P2RX4 AU NM_001256796 exon10 c.22249-22delT 0.188299 0.2371 0.135304 0.1586 0.2347 Uncertain 12_121682051_T->C 12 121682051 121682051 T C snp 124.77 0/1 99 13 8 5 0.38 intronic rs2686340 CAMKK2 AU NM_172215 exon1 c.6+119T>C 0.754193 0.6964 Uncertain 12_121690548_T->C 12 121690548 121690548 T C snp 521.77 0/1 99 41 19 22 0.54 intronic rs2686344 CAMKK2 AU NM_006549 exon7 c.12016+31T>C 0.71226 0.6935 0.765416 0.7327 0.6831 Uncertain 12_121690555_T->C 12 121690555 121690555 T C snp 451.77 0/1 99 37 17 20 0.54 intronic rs2686345 CAMKK2 AU NM_006549 exon7 c.12016+38T>C 0.71226 0.6935 0.765185 0.7327 0.6831 Uncertain 12_121690587_G->A 12 121690587 121690587 G A snp 379.77 0/1 99 23 10 13 0.57 intronic rs1560568 CAMKK2 AU NM_006549 exon7 c.12016+70G>A 0.240815 0.2778 0.176084 Uncertain 12_121691096_G->A 12 121691096 121691096 G A snp 1743.77 0/1 99 107 43 64 0.6 exonic rs1132780 CAMKK2 AU nonsynonymous SNV NM_006549 exon10 c.C1087T p.R363C 0.241214 0.2778 0.180532 0.1825 0.2699 0.01 T 1.000 P -1.067 T 0.981 D 0.729 D Pathogenic 12_121764799_A->C 12 121764799 121764799 A C snp 2081.77 1/1 99 70 0 70 1.0 intronic ANAPC5 AU NM_001137559 exon7 c.18616-99A>C 0.827077 0.9921 Uncertain 12_121768248_C->T 12 121768248 121768248 C T snp 386.77 1/1 30 12 0 12 1.0 intronic ANAPC5 AU NM_001137559 exon9 c.22103-137C>T 0.64976 0.8274 Uncertain 12_121773552_T->C 12 121773552 121773552 T C snp 1050.77 1/1 75 36 0 36 1.0 intronic ANAPC5 AU NM_001137559 exon11 c.27244+26T>C 0.667133 0.8313 0.707443 0.8184 0.8360 Uncertain 12_121785795_C->A 12 121785795 121785795 C A snp 823.77 0/1 99 54 21 33 0.61 intronic ANAPC5 AU NM_001137559 exon16 c.39402+111C>A 0.58746 0.6161 Uncertain 12_121789887_T->A 12 121789887 121789887 T A snp 368.77 0/1 99 19 8 11 0.58 intronic ANAPC5 AU NM_016237 exon17 c.43654-49T>A 0.561502 0.6131 0.642470 0.7569 0.6664 Uncertain 12_121789927_C->A 12 121789927 121789927 C A snp 1289.77 0/1 99 88 40 48 0.55 intronic ANAPC5 AU NM_016237 exon17 c.43654-9C>A 0.486422 0.6131 0.486688 0.6047 0.6620 Uncertain 12_121840634_T->C 12 121840634 121840634 T C snp 129.77 0/1 99 28 19 9 0.32 intronic RNF34 AU NM_194271 exon2 c.9+24T>C 0.227236 0.1121 0.202061 0.1432 0.1046 Uncertain 12_121852886_T->A 12 121852886 121852886 T A snp 99.28 1/1 9 3 0 3 1.0 intronic RNF34 AU NM_025126 exon2 c.15946-1075T>A 0.295327 0.4454 Uncertain 12_121853164_T->C 12 121853164 121853164 T C snp 151.77 0/1 99 15 8 7 0.47 intronic RNF34 AU NM_025126 exon2 c.15946-797T>C 0.334465 0.4544 Uncertain 12_121855611_G->A 12 121855611 121855611 G A snp 3162.77 0/1 99 244 112 132 0.54 exonic RNF34 AU nonsynonymous SNV NM_025126 exon3 c.G530A p.R177H 0.0071885 0.0109 0.000231 0.0045 0.0088 0.4 T 1 D -1.064 T 0.0 T 0.001 T ID=COSM1359461,COSM1359462;OCCURENCE=1(large_intestine) Pathogenic 12_121858208_A->T 12 121858208 121858208 A T snp 620.77 0/1 99 56 31 25 0.45 intronic RNF34 AU NM_001256858 exon3 c.20122+71A>T 0.227236 0.1111 Uncertain 12_121858212_G->T 12 121858212 121858212 G T snp 570.77 0/1 99 52 31 21 0.4 intronic RNF34 AU NM_001256858 exon3 c.20122+75G>T 0.227236 0.1111 Uncertain 12_121861424_C->A 12 121861424 121861424 C A snp 3215.74 0/1 99 240 120 120 0.5 UTR3 RNF34 AU 0.227037 0.1111 0.199985 0.1504 0.1112 Uncertain 12_121867829_G->A 12 121867829 121867829 G A snp 800.77 0/1 99 67 33 34 0.51 UTR3 KDM2B AU 0.0858626 0.0387 0.1107 0.0263 Uncertain 12_121870922_G->A 12 121870922 121870922 G A snp 1092.77 0/1 99 90 41 49 0.54 intronic KDM2B AU NM_032590 exon1 c.182+2650G>A 0.335463 0.4534 0.3582 0.4596 Uncertain 12_121871006_A->C 12 121871006 121871006 A C snp 1287.77 0/1 99 118 57 61 0.52 intronic KDM2B AU NM_032590 exon1 c.182+2734A>C 0.334665 0.4544 0.3582 0.4596 0.05 T 0.0 P -0.940 T Uncertain 12_121878659_C->T 12 121878659 121878659 C T snp 1195.77 0/1 99 120 67 53 0.44 exonic KDM2B AU synonymous SNV NM_001005366 exon20 c.G3363A p.Q1121Q 0.334465 0.4514 0.315994 0.3833 0.4475 Uncertain 12_121879111_G->C 12 121879111 121879111 G C snp 332.77 0/1 99 24 12 12 0.5 intronic KDM2B AU NM_032590 exon4 c.10946+75G>C 0.335064 0.4534 Uncertain 12_121880520_G->A 12 121880520 121880520 G A snp 898.77 0/1 99 73 34 39 0.53 exonic KDM2B AU synonymous SNV NM_001005366 exon18 c.C2517T p.D839D 0.334465 0.4534 0.317404 0.4126 0.4669 Uncertain 12_121880885_-->G 12 121880885 121880885 - G indel 761.73 0/1 99 47 22 25 0.53 intronic KDM2B AU NM_032590 exon6 c.12743+52insG 0.222843 0.1121 0.185269 0.1453 0.1015 Uncertain 12_121881848_G->A 12 121881848 121881848 G A snp 958.77 0/1 99 108 62 46 0.43 exonic KDM2B AU synonymous SNV NM_001005366 exon16 c.C2325T p.Y775Y 0.322883 0.4435 0.308332 0.3738 0.4419 Uncertain 12_121882098_T->G 12 121882098 121882098 T G snp 3233.06 0/1 99 249 134 115 0.46 ncRNA_exonic MIR7107 AU 0.335264 0.4544 0.317247 0.3855 0.4478 Uncertain 12_121882471_G->C 12 121882471 121882471 G C snp 129.77 0/1 99 15 10 5 0.33 intronic KDM2B AU NM_032590 exon9 c.14249+132G>C 0.350639 0.4544 Uncertain 12_121883027_C->T 12 121883027 121883027 C T snp 695.77 0/1 99 65 35 30 0.46 intronic KDM2B AU NM_032590 exon10 c.14987-50C>T 0.211661 0.1111 0.179415 0.1361 0.1025 Uncertain 12_122012328_T->G 12 122012328 122012328 T G snp 1510.77 1/1 99 47 0 47 1.0 intronic KDM2B AU NM_032590 exon20 c.144361-123T>G 0.0832668 0.251 Uncertain 12_122013607_G->A 12 122013607 122013607 G A snp 684.77 1/1 51 22 0 22 1.0 intronic KDM2B AU NM_032590 exon21 c.145595-78G>A 0.0808706 0.25 Uncertain 12_122064774_CCGCCA->- 12 122064774 122064779 CCGCCA - indel 13976.7 1/1 99 173 0 173 1.0 exonic ORAI1 AR,AD nonframeshift deletion NM_032790 exon1 c.127_132del p.43_44del 0.9998 1 0.9941 0.9938 ID=COSM430547;OCCURENCE=1(upper_aerodigestive_tract),4(endometrium),41(large_intestine),1(liver),1(breast) Uncertain 12_122079189_C->T 12 122079189 122079189 C T snp 7288.77 1/1 99 246 0 246 1.0 exonic ORAI1 AR,AD synonymous SNV NM_032790 exon2 c.C552T p.I184I 0.203874 0.2599 0.139628 0.1968 0.2598 Uncertain 12_122079441_T->C 12 122079441 122079441 T C snp 7476.77 1/1 99 249 0 249 1.0 exonic ORAI1 AR,AD synonymous SNV NM_032790 exon2 c.T804C p.T268T 0.555711 0.5823 0.512873 0.4733 0.6001 Uncertain 12_122091352_A->T 12 122091352 122091352 A T snp 56.74 1/1 6 2 0 2 1.0 intronic MORN3 AU NM_173855 exon3 c.526+187A>T 0.28754 0.2996 Uncertain 12_122097043_-->CACA 12 122097043 122097043 - CACA indel 2608.73 ./1 99 57 4 53 0.93 intronic rs59026522 MORN3 AU NM_173855 exon5 c.6457-53insCACA Uncertain 12_122097043_-->CA 12 122097043 122097043 - CA indel 2608.73 ./1 99 57 4 53 0.93 intronic MORN3 AU NM_173855 exon5 c.6457-53insCA Uncertain 12_122107255_G->A 12 122107255 122107255 G A snp 2684.77 1/1 99 88 0 88 1.0 exonic rs35343615 MORN3 AU synonymous SNV NM_173855 exon1 c.C135T p.N45N 0.0543131 0.1746 0.021836 0.0434 0.1837 Uncertain 12_122208966_G->A 12 122208966 122208966 G A snp 664.77 0/1 99 48 24 24 0.5 intronic rs28685863 TMEM120B AU NM_001080825 exon7 c.58077+88G>A 0.0503195 0.0377 Uncertain 12_122212752_G->T 12 122212752 122212752 G T snp 883.77 0/1 99 76 42 34 0.45 intronic rs7314742 TMEM120B AU NM_001080825 exon10 c.61827+124G>T 0.45607 0.3988 Uncertain 12_122217559_C->T 12 122217559 122217559 C T snp 2939.77 0/1 99 230 105 125 0.54 exonic rs34719836 RHOF AU nonsynonymous SNV NM_019034 exon5 c.G481A p.A161T 0.014377 0.0238 0.002537 0.0102 0.0233 0.01 T 0.733 D -0.935 T 0.041 T 0.009 T Pathogenic 12_122217856_-->GT 12 122217856 122217856 - GT indel 2046.73 1/1 99 43 0 43 1.0 UTR3 rs397697731 TMEM120B AU 0.964257 0.997 Uncertain 12_122218489_C->G 12 122218489 122218489 C G snp 1977.77 0/1 99 168 83 85 0.51 UTR3 rs7136373 TMEM120B AU 0.174521 0.0526 Uncertain 12_122231044_G->C 12 122231044 122231044 G C snp 950.77 0/1 99 78 39 39 0.5 intronic rs17522849 RHOF AU NM_019034 exon4 c.13654-13G>C 0.0153754 0.0228 0.005253 0.0229 0.0350 Uncertain 12_122231368_C->A 12 122231368 122231368 C A snp 1948.77 1/1 99 72 0 72 1.0 intronic rs2707067 RHOF AU NM_019034 exon5 c.13998-33C>A 0.818091 0.9802 0.794002 0.8670 0.9884 Uncertain 12_122231573_C->T 12 122231573 122231573 C T snp 123.77 0/1 99 11 4 7 0.64 UTR5 rs2707066 RHOF AU 0.797724 0.9573 0.850665 0.8676 0.9808 Uncertain 12_122235669_C->T 12 122235669 122235669 C T snp 83.77 0/1 33 5 2 3 0.6 ncRNA_intronic rs117495184 LINC01089 AU 0.0163738 0.0228 Uncertain 12_122243207_G->T 12 122243207 122243207 G T snp 152.77 0/1 99 10 5 5 0.5 intronic rs200437328 SETD1B AU NM_015048 exon2 c.479+85G>T 0.0153754 0.0228 Uncertain 12_122243905_C->T 12 122243905 122243905 C T snp 2544.77 0/1 99 227 117 110 0.48 exonic rs1168666 SETD1B AU synonymous SNV NM_015048 exon3 c.C438T p.I146I 0.748203 0.9425 0.706965 0.8042 0.9469 Uncertain 12_122246136_T->C 12 122246136 122246136 T C snp 1511.77 0/1 99 127 65 62 0.49 exonic rs145928437 SETD1B AU synonymous SNV NM_015048 exon4 c.T567C p.Y189Y 0.0167732 0.0228 0.008979 0.0212 0.0257 ID=COSM4146733;OCCURENCE=1(thyroid) Uncertain 12_122247853_C->T 12 122247853 122247853 C T snp 3119.77 0/1 99 250 133 117 0.47 exonic rs61736010 SETD1B AU synonymous SNV NM_015048 exon5 c.C1002T p.P334P 0.0167732 0.0228 0.008541 0.0232 0.0312 ID=COSM4146734;OCCURENCE=1(thyroid) Uncertain 12_122248582_C->G 12 122248582 122248582 C G snp 4973.77 1/1 99 177 0 177 1.0 exonic rs895952 SETD1B AU synonymous SNV NM_015048 exon5 c.C1731G p.L577L 0.820687 0.9802 0.763688 0.8472 0.9844 Uncertain 12_122261456_G->A 12 122261456 122261456 G A snp 2664.77 0/1 99 250 133 117 0.47 exonic rs3741593 SETD1B AU synonymous SNV NM_015048 exon12 c.G4842A p.A1614A 0.372005 0.5427 0.413053 0.4805 0.5976 Uncertain 12_122265517_C->T 12 122265517 122265517 C T snp 2055.77 0/1 99 210 119 91 0.43 exonic rs61743641 SETD1B AU synonymous SNV NM_015048 exon14 c.C5301T p.G1767G 0.0131789 0.0218 0.005256 0.0206 0.0295 Uncertain 12_122265770_G->A 12 122265770 122265770 G A snp 3267.77 0/1 99 249 117 132 0.53 intronic rs117774166 SETD1B AU NM_015048 exon15 c.23117+10G>A 0.0197684 0.0188 0.012265 0.0244 0.0300 Uncertain 12_122281575_A->G 12 122281575 122281575 A G snp 363.77 0/1 99 32 17 15 0.47 intronic rs1795963 HPD AR,AD NM_002150 exon3 c.3982-40A>G 0.764577 0.8681 0.693987 0.6627 0.8587 Uncertain 12_122284715_T->C 12 122284715 122284715 T C snp 1094.77 0/1 99 78 36 42 0.54 intronic rs2247291 HPD AR,AD NM_002150 exon4 c.7134-52T>C 0.845447 0.876 0.862024 Uncertain 12_122287133_T->- 12 122287133 122287133 T - indel 306.73 0/1 99 25 8 17 0.68 intronic rs3832816 HPD AR,AD NM_002150 exon6 c.9349+151delT 0.833466 0.87 Uncertain 12_122294005_G->A 12 122294005 122294005 G A snp 105.77 0/1 99 9 5 4 0.44 intronic rs34943778 HPD AR,AD NM_002150 exon9 c.16596-224G>A 0.563498 0.7986 Uncertain 12_122295335_T->C 12 122295335 122295335 T C snp 2081.77 0/1 99 175 93 82 0.47 exonic rs1154510 HPD AR,AD nonsynonymous SNV NM_002150 exon4 c.A97G p.T33A 0.876398 0.871 0.900892 0.8502 0.8520 1 T 1.0 P -0.945 T CLINSIG=pathogenic;CLNDBN=4-Alpha-hydroxyphenylpyruvate_hydroxylase_deficiency;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000001643.1;CLNDSDB=MedGen:OMIM:Orphanet;CLNDSDBID=C2931042:140350:ORPHA2118 ID=CM003889;DIS=Hawkinsinuria;TAG=DM?;PUB=11073718 DM? Pathogenic 12_122296784_C->T 12 122296784 122296784 C T snp 517.77 0/1 99 38 15 23 0.61 upstream rs3741591 HPD AR,AD 0.336062 0.5784 0.316689 Uncertain 12_122326812_T->C 12 122326812 122326812 T C snp 1107.77 0/1 99 112 63 49 0.44 exonic rs2230681 PSMD9 AU nonsynonymous SNV NM_001261400 exon1 c.T50C p.V17A 0.833666 0.875 0.860025 0.8557 0.8665 0.8 T 0.0 P -1.034 T 0.0 T 0.0 T Pathogenic 12_122348746_A->G 12 122348746 122348746 A G snp 2364.77 0/1 99 202 103 99 0.49 intronic rs4069666 PSMD9 AU NM_001261400 exon3 c.26999-5015A>G 0.340855 0.5188 Uncertain 12_122353796_A->G 12 122353796 122353796 A G snp 1138.77 0/1 99 112 58 54 0.48 exonic rs14259 PSMD9 AU nonsynonymous SNV NM_001261400 exon3 c.A275G p.E92G 0.285343 0.4812 0.213363 0.3214 0.4987 0.16 T 1.0 P -0.904 T 0.601 T 0.312 P Pathogenic 12_122361930_T->- 12 122361930 122361930 T - indel 233.73 0/1 85 11 3 8 0.73 intronic rs34885077 WDR66 AU NM_144668 exon3 c.2685+34delT 0.873602 0.8591 0.899130 0.8523 0.8457 Uncertain 12_122369762_C->T 12 122369762 122369762 C T snp 937.77 0/1 99 94 52 42 0.45 exonic rs7313748 WDR66 AU synonymous SNV NM_144668 exon4 c.C858T p.N286N 0.279553 0.4821 0.221060 0.3215 0.5012 Uncertain 12_122380274_A->G 12 122380274 122380274 A G snp 220.77 0/1 99 16 8 8 0.5 intronic rs2247139 WDR66 AU NM_144668 exon6 c.21228-165A>G 0.864617 0.8591 Uncertain 12_122386807_A->G 12 122386807 122386807 A G snp 54.74 1/1 6 2 0 2 1.0 intronic rs76025563 WDR66 AU NM_144668 exon8 c.27678-82A>G 0.28754 0.4821 Uncertain 12_122389248_A->G 12 122389248 122389248 A G snp 196.77 0/1 99 20 12 8 0.4 intronic rs1185260 WDR66 AU NM_144668 exon9 c.30174-137A>G 0.873203 0.8601 Uncertain 12_122391963_A->G 12 122391963 122391963 A G snp 590.77 0/1 99 43 22 21 0.49 intronic rs1154513 WDR66 AU NM_144668 exon10 c.32814-62A>G 0.871805 0.8601 Uncertain 12_122396395_C->T 12 122396395 122396395 C T snp 2346.77 0/1 99 202 103 99 0.49 exonic rs17852561 WDR66 AU nonsynonymous SNV NM_144668 exon12 c.C1948T p.L650F 0.277955 0.4821 0.224942 0.3184 0.5012 0.28 T 0.0 P -0.951 T 0.027 T 0.009 T Pathogenic 12_122405912_G->T 12 122405912 122405912 G T snp 3283.77 0/1 99 249 121 128 0.51 exonic rs1169081 WDR66 AU nonsynonymous SNV NM_144668 exon17 c.G2608T p.V870L 0.294329 0.4702 0.240003 0.3246 0.4870 1.000 P -0.911 T 0.518 P 0.241 P Pathogenic 12_122409664_T->C 12 122409664 122409664 T C snp 269.77 0/1 99 26 14 12 0.46 intronic rs658957 WDR66 AU NM_001178003 exon18 c.50252+201T>C 0.533946 0.5169 Uncertain 12_122439369_T->C 12 122439369 122439369 T C snp 1097.77 0/1 99 121 67 54 0.45 intronic rs1182927 WDR66 AU NM_144668 exon21 c.80191-33T>C 0.867013 0.8581 0.895093 0.8523 0.8461 Uncertain 12_122459863_T->A 12 122459863 122459863 T A snp 96.28 1/1 9 3 0 3 1.0 UTR5 rs1678962 BCL7A AU 0.272764 0.499 Uncertain 12_122468756_A->G 12 122468756 122468756 A G snp 673.77 0/1 99 49 21 28 0.57 intronic rs59397548 BCL7A AU NM_001024808 exon2 c.8690+69A>G 0.333067 0.5446 Uncertain 12_122497001_T->C 12 122497001 122497001 T C snp 1523.77 1/1 99 53 0 53 1.0 exonic rs28629903 BCL7A AU synonymous SNV NM_001024808 exon6 c.T565C p.L189L 0.505391 0.4921 0.498539 0.5588 0.5365 Uncertain 12_122611620_A->G 12 122611620 122611620 A G snp 113.77 0/1 95 7 3 4 0.57 intronic rs75503016 MLXIP AU NM_014938 exon2 c.95043-182A>G 0.73742 0.7817 Uncertain 12_122611641_C->T 12 122611641 122611641 C T snp 126.77 0/1 99 12 4 8 0.67 intronic rs78324047 MLXIP AU NM_014938 exon2 c.95043-161C>T 0.73722 0.7817 Uncertain 12_122612625_C->G 12 122612625 122612625 C G snp 535.77 0/1 99 41 22 19 0.46 intronic rs10847611 MLXIP AU NM_014938 exon3 c.95756+110C>G 0.73722 0.7817 Uncertain 12_122613599_A->G 12 122613599 122613599 A G snp 1209.77 0/1 99 88 34 54 0.61 intronic rs10847853 MLXIP AU NM_014938 exon4 c.96924-84A>G 0.705671 0.7827 Uncertain 12_122615515_C->G 12 122615515 122615515 C G snp 2828.77 1/1 99 93 0 93 1.0 intronic rs4758654 MLXIP AU NM_014938 exon7 c.98721+35C>G 0.586462 0.494 0.569749 0.5458 0.5136 Uncertain 12_122616759_G->A 12 122616759 122616759 G A snp 2965.77 1/1 99 113 1 112 0.99 intronic rs7955571 MLXIP AU NM_014938 exon8 c.100079-79G>A 0.493411 0.4831 Uncertain 12_122616766_G->A 12 122616766 122616766 G A snp 3049.77 1/1 99 120 0 120 1.0 intronic rs7955575 MLXIP AU NM_014938 exon8 c.100079-72G>A 0.493411 0.4831 Uncertain 12_122617989_A->G 12 122617989 122617989 A G snp 1096.77 0/1 99 123 74 49 0.4 exonic rs7978353 MLXIP AU nonsynonymous SNV NM_014938 exon9 c.A1187G p.E396G 0.455871 0.3581 0.423294 0.4265 0.3855 0.59 T 0.0 P -0.926 T 0.0 T 0.001 T Pathogenic 12_122618131_A->G 12 122618131 122618131 A G snp 1480.77 0/1 99 135 60 75 0.56 exonic rs36045144 MLXIP AU synonymous SNV NM_014938 exon9 c.A1329G p.P443P 0.22524 0.2738 0.177879 0.2245 0.3148 Uncertain 12_122619529_T->- 12 122619529 122619529 T - indel 1207.73 1/1 99 37 0 37 1.0 intronic rs11287019 MLXIP AU NM_014938 exon10 c.103011-241delT 0.491613 0.4831 Uncertain 12_122622208_T->- 12 122622208 122622208 T - indel 9910.73 1/1 99 238 0 238 1.0 intronic rs11307581 MLXIP AU NM_014938 exon12 c.105378+71delT 0.501398 0.4831 Uncertain 12_122623000_T->C 12 122623000 122623000 T C snp 2855.77 1/1 99 100 0 100 1.0 exonic rs4758686 MLXIP AU synonymous SNV NM_014938 exon14 c.T2286C p.T762T 0.545927 0.4931 0.523920 0.5328 0.5132 1.000 P -0.965 T Likely benign 12_122623595_A->G 12 122623595 122623595 A G snp 683.77 0/1 99 72 43 29 0.4 intronic rs9668430 MLXIP AU NM_014938 exon15 c.106726+110A>G 0.223842 0.2728 Uncertain 12_122625212_A->G 12 122625212 122625212 A G snp 508.77 1/1 39 13 0 13 1.0 intronic rs7488857 MLXIP AU NM_014938 exon16 c.108741-288A>G 0.565895 0.4921 Uncertain 12_122626381_G->A 12 122626381 122626381 G A snp 1192.77 0/1 99 84 31 53 0.63 UTR3 rs11057509 MLXIP AU 0.165335 0.2312 0.136192 0.1939 0.2745 Uncertain 12_122626842_G->A 12 122626842 122626842 G A snp 7752.77 1/1 99 249 0 249 1.0 UTR3 rs4758685 MLXIP AU 0.488419 0.4812 0.4776 0.4863 0.12 T 0.0 P -1.046 T Uncertain 12_122658383_A->G 12 122658383 122658383 A G snp 3708.77 1/1 99 142 1 141 0.99 intronic rs6489173 IL31 AU NM_001014336 exon2 c.1432-7A>G 0.9998 1 0.999462 0.9999 1 Uncertain 12_122668965_T->C 12 122668965 122668965 T C snp 691.77 1/1 51 22 0 22 1.0 intronic rs10847623 LRRC43 AU NM_001098519 exon2 c.1374-100T>C 0.724641 0.7937 Uncertain 12_122669333_G->C 12 122669333 122669333 G C snp 1163.77 0/1 99 96 48 48 0.5 intronic rs192088829 LRRC43 AU NM_001098519 exon2 c.1635+7G>C 0.000998403 0.005 0.0012 0.0167 Uncertain 12_122669369_C->G 12 122669369 122669369 C G snp 610.77 0/1 99 51 31 20 0.39 intronic rs200547603 LRRC43 AU NM_001098519 exon2 c.1635+43C>G 0.000998403 0.005 0.0005 0.0074 Uncertain 12_122674032_C->T 12 122674032 122674032 C T snp 2287.77 1/1 99 85 0 85 1.0 intronic rs10847725 LRRC43 AU NM_152759 exon5 c.2396-644C>T 0.978634 1 0.9971 1 0.78 T 0.000 P -0.987 T Uncertain 12_122674758_G->A 12 122674758 122674758 G A snp 7023.77 1/1 99 250 0 250 1.0 exonic rs4758651 LRRC43 AU synonymous SNV NM_001098519 exon5 c.G744A p.R248R 0.649161 0.9008 0.619370 0.7073 0.9131 Uncertain 12_122675029_C->- 12 122675029 122675029 C - indel 160.87 1/1 15 6 0 6 1.0 intronic rs11322813 LRRC43 AU NM_152759 exon5 c.2635+114delC 0.296526 0.7083 Uncertain 12_122676013_A->C 12 122676013 122676013 A C snp 2836.77 1/1 99 107 1 106 0.99 exonic rs11060167 LRRC43 AU synonymous SNV NM_001098519 exon6 c.A988C p.R330R 0.294529 0.7123 0.207323 0.2865 0.7074 Uncertain 12_122684859_G->A 12 122684859 122684859 G A snp 1983.77 0/1 99 166 82 84 0.51 exonic rs77299939 LRRC43 AU synonymous SNV NM_001098519 exon8 c.G1473A p.V491V 0.0295527 0.0506 0.012736 0.0125 0.0586 Uncertain 12_122684966_G->C 12 122684966 122684966 G C snp 1964.77 1/1 99 57 0 57 1.0 intronic rs11060679 LRRC43 AU NM_152759 exon8 c.12597+89G>C 0.995407 1 Uncertain 12_122689161_C->G 12 122689161 122689161 C G snp 1692.77 1/1 99 70 0 70 1.0 UTR5 rs12827843 B3GNT4 AU 0.284345 0.5992 0.215934 0.2860 0.6131 Uncertain 12_122689181_C->G 12 122689181 122689181 C G snp 1857.77 1/1 99 74 0 74 1.0 exonic rs7136356 B3GNT4 AU nonsynonymous SNV NM_030765 exon2 c.C16G p.P6A 0.454872 0.6706 0.354891 0.3697 0.6869 0.24 T 0.000 P -0.932 T 0.002 T 0.001 T Pathogenic 12_122689244_C->T 12 122689244 122689244 C T snp 468.77 0/1 99 57 33 24 0.42 intronic rs12828049 B3GNT4 AU NM_030765 exon2 c.66+13C>T 0.260383 0.5585 0.220342 0.2925 0.5726 Uncertain 12_122691738_C->A 12 122691738 122691738 C A snp 6978.77 1/1 99 250 0 250 1.0 exonic rs4758675 B3GNT4 AU synonymous SNV NM_030765 exon3 c.C940A p.R314R 0.99361 1 0.992619 0.9979 0.9999 Uncertain 12_122694138_G->A 12 122694138 122694138 G A snp 651.77 0/1 99 54 27 27 0.5 intronic rs140483502 DIABLO AD NM_019887 exon1 c.197+1014G>A 0.00559105 0.0268 Uncertain 12_122701001_T->A 12 122701001 122701001 T A snp 1852.74 0/1 6 72 6 66 0.92 intronic rs2271411 DIABLO AD NM_019887 exon2 c.8107-33T>A 0.550719 0.6627 0.469399 0.4276 0.6539 Uncertain 12_122703014_C->T 12 122703014 122703014 C T snp 4871.77 1/1 99 165 2 163 0.99 intronic rs7963565 DIABLO AD NM_019887 exon4 c.10017+70C>T 0.526957 0.6558 Uncertain 12_122720310_C->T 12 122720310 122720310 C T snp 2241.77 1/1 99 75 0 75 1.0 intronic rs2271408 VPS33A AU NM_022916 exon3 c.3540-22C>T 0.287939 0.5952 0.211595 0.2923 0.6098 Uncertain 12_122723318_ACACAC->- 12 122723318 122723323 ACACAC - indel 3594.73 1/1 99 93 0 93 1.0 intronic rs66515613 VPS33A AU NM_022916 exon4 c.6479+47_6479+52delACACAC 0.238053 Uncertain 12_122760929_-->CACACACACACACACA 12 122760929 122760929 - CACACACACACACACA indel 10589.7 ./1 99 102 2 100 0.98 intronic rs112247423 CLIP1 AU NM_002956 exon3 c.5279-1771insCACACACACACACACA 0.344649 0.5982 Uncertain 12_122760929_-->CACACACACACACA 12 122760929 122760929 - CACACACACACACA indel 10589.7 ./1 99 102 2 100 0.98 intronic CLIP1 AU NM_002956 exon3 c.5279-1771insCACACACACACACA Uncertain 12_122762604_T->C 12 122762604 122762604 T C snp 1002.77 1/1 72 38 0 38 1.0 intronic rs2271409 CLIP1 AU NM_002956 exon3 c.5279-96T>C 0.364617 0.5982 Uncertain 12_122762763_-->AA 12 122762763 122762763 - AA indel 514.73 0/1 35 43 4 39 0.91 intronic rs3066171 CLIP1 AU NM_002956 exon3 c.5329+13insAA 0.2663 0.4074 Uncertain 12_122804034_A->G 12 122804034 122804034 A G snp 534.77 0/1 99 26 9 17 0.65 intronic rs3825097 CLIP1 AU NM_002956 exon9 c.46474+139A>G 0.50639 0.6786 Uncertain 12_122812503_G->C 12 122812503 122812503 G C snp 733.77 0/1 99 50 24 26 0.52 exonic rs1129167 CLIP1 AU nonsynonymous SNV NM_002956 exon16 c.C3207G p.D1069E 0.40655 0.3889 0.468322 0.5625 0.3790 1 T 0.036 P -0.930 T 0.0 T 0.001 T Pathogenic 12_122817507_A->G 12 122817507 122817507 A G snp 1439.77 1/1 99 51 0 51 1.0 intronic rs7956480 CLIP1 AU NM_002956 exon12 c.60112-26A>G 0.820687 0.8552 0.780221 0.7756 0.8440 Uncertain 12_122817797_C->T 12 122817797 122817797 C T snp 46.78 0/1 27 3 1 2 0.67 intronic rs58853108 CLIP1 AU NM_002956 exon12 c.60269+107C>T 0.181909 0.4474 Uncertain 12_122838956_A->G 12 122838956 122838956 A G snp 649.77 1/1 48 26 0 26 1.0 intronic rs4997380 CLIP1 AU NM_002956 exon19 c.81578-43A>G 0.736422 0.8522 0.600569 0.7485 0.8411 Uncertain 12_122839909_C->T 12 122839909 122839909 C T snp 266.77 0/1 99 16 5 11 0.69 intronic rs3817012 CLIP1 AU NM_002956 exon20 c.82438+50C>T 0.182308 0.4494 0.080655 0.1392 0.4492 Uncertain 12_122962286_G->A 12 122962286 122962286 G A snp 186.77 0/1 99 10 4 6 0.6 intronic rs112206622 ZCCHC8 AU NM_017612 exon2 c.4344-101G>A 0.231829 0.4722 Uncertain 12_122963011_T->C 12 122963011 122963011 T C snp 113.78 0/1 25 5 1 4 0.8 intronic rs6416295 ZCCHC8 AU NM_017612 exon3 c.4796+172T>C 0.579073 0.3829 Uncertain 12_122964708_T->C 12 122964708 122964708 T C snp 1366.77 1/1 99 48 0 48 1.0 intronic rs10846978 ZCCHC8 AU NM_017612 exon4 c.6693-28T>C 0.823283 0.8562 0.793620 0.8011 0.8660 Uncertain 12_122966016_-->A 12 122966016 122966016 - A indel 159.73 0/1 99 23 13 10 0.43 intronic rs397713843 ZCCHC8 AU NM_017612 exon5 c.8025-52insA 0.482428 0.369 Uncertain 12_122966373_T->C 12 122966373 122966373 T C snp 321.77 0/1 99 22 11 11 0.5 intronic rs4758692 ZCCHC8 AU NM_017612 exon6 c.8448-118T>C 0.420927 0.3829 Uncertain 12_122983460_A->G 12 122983460 122983460 A G snp 2082.77 1/1 99 76 0 76 1.0 intronic rs7314638 ZCCHC8 AU NM_017612 exon13 c.25371+46A>G 0.823283 0.8562 0.791433 0.7731 0.8422 Uncertain 12_122991279_C->T 12 122991279 122991279 C T snp 253.77 0/1 99 23 14 9 0.39 intronic rs11058480 RSRC2 AU NM_023012 exon2 c.1307-101C>T 0.213259 0.4216 Uncertain 12_122991478_C->G 12 122991478 122991478 C G snp 1076.77 1/1 78 34 0 34 1.0 intronic rs9988963 RSRC2 AU NM_023012 exon2 c.1397+8C>G 0.817692 0.8552 0.786483 0.7622 0.8408 Uncertain 12_122993011_C->T 12 122993011 122993011 C T snp 391.77 0/1 99 48 29 19 0.4 intronic rs10773230 RSRC2 AU NM_023012 exon3 c.2921+17C>T 0.427915 0.4365 0.462786 0.5380 0.4437 Uncertain 12_122995469_A->- 12 122995469 122995469 A - indel 641.73 1/1 45 15 0 15 1.0 intronic rs10709275 RSRC2 AU NM_023012 exon4 c.5582-186delA 0.820288 0.8542 Uncertain 12_122999359_A->- 12 122999359 122999359 A - indel 427.73 0/1 99 33 11 22 0.67 intronic rs11322682 RSRC2 AU NM_023012 exon5 c.9578-292delA 0.586861 0.4484 Uncertain 12_122999535_C->T 12 122999535 122999535 C T snp 665.77 0/1 99 45 21 24 0.53 intronic rs6489056 RSRC2 AU NM_023012 exon5 c.9578-116C>T 0.444888 0.4345 Uncertain 12_122999891_T->C 12 122999891 122999891 T C snp 46.77 0/1 33 3 1 2 0.67 intronic rs61956121 RSRC2 AU NM_023012 exon5 c.9701+117T>C 0.296326 0.3988 Uncertain 12_123001737_G->A 12 123001737 123001737 G A snp 595.77 0/1 99 29 9 20 0.69 intronic rs1599748 RSRC2 AU NM_023012 exon6 c.11700-36G>A 0.426518 0.4355 0.463863 0.5108 0.4139 Uncertain 12_123002143_C->T 12 123002143 123002143 C T snp 133.03 1/1 12 4 0 4 1.0 intronic rs6416298 RSRC2 AU NM_023012 exon6 c.11904+166C>T 0.857228 0.9345 Uncertain 12_123003278_C->T 12 123003278 123003278 C T snp 501.77 0/1 69 19 3 16 0.84 intronic rs10847103 RSRC2 AU NM_023012 exon7 c.13312-107C>T 0.215256 0.4187 Uncertain 12_123003317_T->C 12 123003317 123003317 T C snp 416.77 0/1 99 52 33 19 0.37 intronic rs11058562 RSRC2 AU NM_023012 exon7 c.13312-68T>C 0.336262 0.4315 Uncertain 12_123024332_-->T 12 123024332 123024332 - T indel 35.73 0/1 73 32 10 22 0.69 intronic rs35303600 KNTC1 AU NM_014708 exon5 c.9691+31insT 0.2095 0.2841 Uncertain 12_123028096_T->C 12 123028096 123028096 T C snp 576.77 0/1 99 50 23 27 0.54 intronic rs61956128 KNTC1 AU NM_014708 exon7 c.13536-50T>C 0.271965 0.4444 0.215349 Uncertain 12_123067587_G->A 12 123067587 123067587 G A snp 733.77 0/1 99 55 24 31 0.56 intronic rs7398861 KNTC1 AU NM_014708 exon34 c.52922+55G>A 0.298722 0.4048 Uncertain 12_123069628_A->G 12 123069628 123069628 A G snp 54.74 1/1 6 2 0 2 1.0 intronic KNTC1 AU NM_014708 exon36 c.54927+91A>G Uncertain 12_123071071_T->C 12 123071071 123071071 T C snp 83.77 0/1 69 5 2 3 0.6 intronic rs12829891 KNTC1 AU NM_014708 exon38 c.56637-176T>C 0.24381 0.4435 Uncertain 12_123071365_A->T 12 123071365 123071365 A T snp 232.84 1/1 18 9 0 9 1.0 intronic rs7311684 KNTC1 AU NM_014708 exon38 c.56694+61A>T 0.821086 0.8522 Uncertain 12_123071366_T->A 12 123071366 123071366 T A snp 232.84 1/1 18 9 0 9 1.0 intronic rs7315477 KNTC1 AU NM_014708 exon38 c.56694+62T>A 0.821086 0.8522 Uncertain 12_123079020_T->G 12 123079020 123079020 T G snp 1079.77 1/1 78 38 0 38 1.0 intronic rs10847242 KNTC1 AU NM_014708 exon43 c.64322+88T>G 0.680312 0.8482 Uncertain 12_123079035_A->G 12 123079035 123079035 A G snp 832.77 1/1 63 27 0 27 1.0 intronic rs4319547 KNTC1 AU NM_014708 exon43 c.64322+103A>G 0.820887 0.8542 Uncertain 12_123087442_A->G 12 123087442 123087442 A G snp 5983.77 1/1 99 200 0 200 1.0 intronic rs7307735 KNTC1 AU NM_014708 exon47 c.72824+8A>G 0.80012 0.8542 0.765530 0.7491 0.8398 Uncertain 12_123097528_C->A 12 123097528 123097528 C A snp 440.77 0/1 99 26 12 14 0.54 intronic rs10744294 KNTC1 AU NM_014708 exon54 c.83048-130C>A 0.346046 0.4405 Uncertain 12_123103016_G->T 12 123103016 123103016 G T snp 1068.77 0/1 99 142 94 48 0.34 intronic rs7301589 KNTC1 AU NM_014708 exon59 c.88418-12G>T 0.492812 0.4484 0.357622 0.3504 0.4207 Uncertain 12_123105143_C->T 12 123105143 123105143 C T snp 1437.77 0/1 99 145 79 66 0.46 exonic rs2270775 KNTC1 AU synonymous SNV NM_014708 exon60 c.C6267T p.H2089H 0.236821 0.4425 0.186865 0.2332 0.4481 Uncertain 12_123110654_T->C 12 123110654 123110654 T C snp 420.77 1/1 33 12 0 12 1.0 intronic rs3803005 KNTC1 AU NM_014708 exon64 c.96141-97T>C 0.794529 0.8522 Uncertain 12_123186596_C->A 12 123186596 123186596 C A snp 395.77 0/1 99 31 14 17 0.55 UTR3 rs579935 HCAR2 AU Uncertain 12_123186610_G->A 12 123186610 123186610 G A snp 805.77 0/1 99 58 29 29 0.5 UTR3 rs579877 HCAR2 AU 0.15655 0.2927 Uncertain 12_123186611_C->G 12 123186611 123186611 C G snp 816.77 0/1 99 60 30 30 0.5 UTR3 rs579876 HCAR2 AU 0.15655 0.2927 Uncertain 12_123200099_T->C 12 123200099 123200099 T C snp 1311.77 0/1 99 101 44 57 0.56 UTR3 rs579194 HCAR3 AU 0.464457 0.495 0.549325 0.5156 0.5378 Uncertain 12_123200247_G->C 12 123200247 123200247 G C snp 4767.77 1/1 99 183 0 183 1.0 exonic rs1696351 HCAR3 AU nonsynonymous SNV NM_006018 exon1 c.C1038G p.I346M 0.895966 0.8393 0.943692 0.9125 0.8450 0.58 T 0.0 P -0.992 T 0.0 T 0.0 T Pathogenic 12_123200334_T->C 12 123200334 123200334 T C snp 262.77 0/1 99 125 106 19 0.15 exonic rs116821988 HCAR3 AU nonsynonymous SNV NM_006018 exon1 c.A951G p.I317M 0.3827 0.4649 0.14 T 0.0 P -1.073 T 0.0 T 0.0 T Pathogenic 12_123200693_A->G 12 123200693 123200693 A G snp 1131.77 0/1 99 102 51 51 0.5 exonic rs17884481 HCAR3 AU nonsynonymous SNV NM_006018 exon1 c.T592C p.F198L 0.463858 0.495 0.5062 0.5356 0.83 T 0.097 P -0.958 T 0.688 T 0.305 P Pathogenic 12_123200768_T->G 12 123200768 123200768 T G snp 1749.77 0/1 99 140 73 67 0.48 exonic rs1798192 HCAR3 AU nonsynonymous SNV NM_006018 exon1 c.A517C p.T173P 0.464058 0.495 0.549900 0.5063 0.5356 0.09 T 0.0 P -0.922 T 0.001 T 0.005 T Pathogenic 12_123200937_T->G 12 123200937 123200937 T G snp 2422.77 0/1 99 233 135 98 0.42 exonic rs1696352 HCAR3 AU synonymous SNV NM_006018 exon1 c.A348C p.I116I 0.463658 0.495 0.550746 0.5065 0.5359 Uncertain 12_123246781_T->A 12 123246781 123246781 T A snp 215.77 0/1 99 32 21 11 0.34 intronic rs78591962 DENR AU NM_003677 exon3 c.8505+28T>A 0.0928514 0.254 0.034330 0.0629 0.2676 Uncertain 12_123246797_A->G 12 123246797 123246797 A G snp 162.77 0/1 99 25 16 9 0.36 intronic rs75389155 DENR AU NM_003677 exon3 c.8505+44A>G 0.0946486 0.254 0.037602 0.0618 0.2515 Uncertain 12_123247506_T->C 12 123247506 123247506 T C snp 716.77 0/1 99 69 35 34 0.49 intronic rs3817095 DENR AU NM_003677 exon4 c.9228+30T>C 0.0926518 0.254 0.032326 0.0606 0.2508 Uncertain 12_123261962_T->C 12 123261962 123261962 T C snp 223.77 0/1 99 12 5 7 0.58 intronic rs12307038 CCDC62 AU NM_201435 exon2 c.2820-75T>C 0.0932508 0.254 Uncertain 12_123265688_A->G 12 123265688 123265688 A G snp 1550.77 0/1 99 96 42 54 0.56 intronic rs12312837 CCDC62 AU NM_201435 exon3 c.6493-22A>G 0.0932508 0.254 0.044441 0.0690 0.2819 Uncertain 12_123265952_A->G 12 123265952 123265952 A G snp 2467.77 1/1 99 79 0 79 1.0 intronic rs1798563 CCDC62 AU NM_201435 exon3 c.6660+75A>G 0.902157 0.9891 Uncertain 12_123273206_G->A 12 123273206 123273206 G A snp 356.77 0/1 99 23 12 11 0.48 intronic rs7486414 CCDC62 AU NM_201435 exon5 c.14087-98G>A 0.186302 0.256 Uncertain 12_123281744_A->T 12 123281744 123281744 A T snp 142.77 0/1 99 12 7 5 0.42 intronic rs79206681 CCDC62 AU NM_201435 exon7 c.22636-109A>T 0.0842652 0.2321 Uncertain 12_123281967_G->A 12 123281967 123281967 G A snp 4322.77 1/1 99 168 0 168 1.0 intronic rs10744394 CCDC62 AU NM_201435 exon7 c.22725+25G>A 0.861222 0.9871 0.881593 0.9134 0.9872 Uncertain 12_123282926_G->A 12 123282926 123282926 G A snp 124.77 0/1 99 15 10 5 0.33 intronic rs79433554 CCDC62 AU NM_201435 exon8 c.23530+179G>A 0.0842652 0.2321 Uncertain 12_123286478_C->T 12 123286478 123286478 C T snp 66.77 0/1 95 9 6 3 0.33 intronic rs11060064 CCDC62 AU NM_201435 exon9 c.27182+79C>T 0.0840655 0.2312 Uncertain 12_123286491_A->G 12 123286491 123286491 A G snp 38.77 0/1 67 5 3 2 0.4 intronic rs11060065 CCDC62 AU NM_201435 exon9 c.27182+92A>G 0.0844649 0.2312 Uncertain 12_123290952_TT->- 12 123290952 123290953 TT - indel 602.73 0/1 99 91 10 81 0.89 intronic rs34775544 CCDC62 AU NM_201435 exon10 c.31625+110_31625+111delTT 0.812101 0.9702 Uncertain 12_123297718_T->A 12 123297718 123297718 T A snp 1003.77 1/1 75 30 0 30 1.0 intronic rs4759391 CCDC62 AU NM_201435 exon11 c.38599-98T>A 0.81869 0.9871 Uncertain 12_123307736_G->T 12 123307736 123307736 G T snp 35.77 0/1 64 7 5 2 0.29 intronic rs2649909 CCDC62 AU NM_201435 exon12 c.48695-176G>T 0.128594 0.2232 Uncertain 12_123307754_C->T 12 123307754 123307754 C T snp 164.77 0/1 66 9 3 6 0.67 intronic rs7954285 CCDC62 AU NM_201435 exon12 c.48695-158C>T 0.740016 0.7569 Uncertain 12_123307755_A->G 12 123307755 123307755 A G snp 272.8 1/1 21 9 0 9 1.0 intronic rs2604851 CCDC62 AU NM_201435 exon12 c.48695-157A>G 0.944089 0.9831 Uncertain 12_123319647_A->C 12 123319647 123319647 A C snp 107.77 0/1 99 11 7 4 0.36 intronic rs112066678 HIP1R AU NM_001303099 exon1 c.57+94A>C 0.146765 0.2272 Uncertain 12_123320195_GCGGGCGGCGGGCG->- 12 123320195 123320208 GCGGGCGGCGGGCG - indel 1234.73 0/1 99 27 4 23 0.85 splicing rs545043313 HIP1R AU NM_003959 exon1 c.93+5_93+18delGCGGGCGGCGGGCG 0.355032 0.4444 0.0317 0.0758 Pathogenic 12_123335325_C->T 12 123335325 123335325 C T snp 509.77 0/1 99 37 14 23 0.62 intronic rs77455920 HIP1R AU NM_003959 exon6 c.15284-56C>T 0.14357 0.2123 0.085195 0.1777 0.3105 Uncertain 12_123335483_A->G 12 123335483 123335483 A G snp 1119.77 0/1 99 80 35 45 0.56 intronic rs2271048 HIP1R AU NM_003959 exon6 c.15361+25A>G 0.94369 0.9782 0.954552 0.9376 0.9785 Uncertain 12_123339344_A->G 12 123339344 123339344 A G snp 333.77 0/1 99 21 8 13 0.62 intronic rs2292136 HIP1R AU NM_003959 exon9 c.19354-107A>G 0.780551 0.7639 Uncertain 12_123339712_A->G 12 123339712 123339712 A G snp 2378.77 0/1 99 195 105 90 0.46 intronic rs2292138 HIP1R AU NM_003959 exon10 c.19578+37A>G 0.785343 0.7639 0.849992 0.8410 0.7532 Uncertain 12_123340453_-->C 12 123340453 123340453 - C indel 1559.73 0/1 99 77 30 47 0.61 splicing rs11418615 HIP1R AU NM_003959 exon13 c.20353+3insC 0.785543 0.7639 0.842084 0.8231 0.7635 Pathogenic 12_123341289_A->C 12 123341289 123341289 A C snp 40.77 0/1 69 5 3 2 0.4 intronic rs897386 HIP1R AU NM_003959 exon17 c.21176+16A>C 0.74361 0.7639 0.810954 0.8080 0.7715 Uncertain 12_123341297_A->G 12 123341297 123341297 A G snp 43.77 0/1 70 4 2 2 0.5 intronic rs897385 HIP1R AU NM_003959 exon17 c.21176+24A>G 0.785343 0.7639 0.855082 0.8135 0.7632 Uncertain 12_123341833_G->C 12 123341833 123341833 G C snp 1262.77 0/1 99 139 82 57 0.41 UTR3 rs7138398 HIP1R AU 0.785343 0.7639 0.7932 0.7685 Uncertain 12_123341863_G->C 12 123341863 123341863 G C snp 1013.77 0/1 99 115 69 46 0.4 UTR3 rs2343109 HIP1R AU 0.742013 0.7639 Uncertain 12_123342629_CTCTT->- 12 123342629 123342633 CTCTT - indel 2622.73 0/1 99 100 64 36 0.36 intronic rs3069144 HIP1R AU NM_003959 exon19 c.22551-19_22551-15delCTCTT 0.829429 0.8433 0.7428 Uncertain 12_123342885_C->T 12 123342885 123342885 C T snp 1114.77 0/1 99 123 74 49 0.4 intronic rs12313006 HIP1R AU NM_003959 exon20 c.22798-10C>T 0.179513 0.2292 0.127557 0.1085 0.2442 Uncertain 12_123343571_T->G 12 123343571 123343571 T G snp 1540.77 0/1 99 177 105 72 0.41 intronic rs2343110 HIP1R AU NM_003959 exon22 c.23510-36T>G 0.785942 0.7639 0.8411 0.7566 Uncertain 12_123343572_-->GC 12 123343572 123343572 - GC indel 2869.73 0/1 99 177 101 76 0.43 intronic rs3070075 HIP1R AU NM_003959 exon22 c.23510-35insGC 0.775958 0.755 0.744402 0.8412 0.7569 Uncertain 12_123343927_-->G 12 123343927 123343927 - G indel 3005.73 0/1 99 250 122 128 0.51 intronic rs3215147 HIP1R AU NM_003959 exon23 c.23875-45insG 0.0870607 0.2024 0.0750 0.2448 Uncertain 12_123344021_G->A 12 123344021 123344021 G A snp 3045.77 0/1 99 228 100 128 0.56 exonic rs2271051 HIP1R AU nonsynonymous SNV NM_003959 exon23 c.G2344A p.V782M 0.158546 0.2262 0.103721 0.0988 0.2370 0.42 T 0.000 P -1.037 T 0.0 T 0.0 T Pathogenic 12_123344910_A->C 12 123344910 123344910 A C snp 3382.77 1/1 99 116 0 116 1.0 intronic rs937765 HIP1R AU NM_003959 exon27 c.24872-59A>C 0.934904 0.9901 Uncertain 12_123345090_G->A 12 123345090 123345090 G A snp 1353.77 0/1 99 99 44 55 0.56 intronic rs2292139 HIP1R AU NM_003959 exon27 c.24973+20G>A 0.08127 0.2222 0.028033 0.0552 0.2373 Uncertain 12_123345347_G->A 12 123345347 123345347 G A snp 3392.77 1/1 99 119 0 119 1.0 intronic rs7306948 HIP1R AU NM_003959 exon28 c.25234+16G>A 0.933307 0.9891 0.946470 0.9364 0.9892 Uncertain 12_123345360_T->C 12 123345360 123345360 T C snp 3453.77 1/1 99 117 0 117 1.0 intronic rs7298176 HIP1R AU NM_003959 exon28 c.25234+29T>C 0.946885 0.9901 0.956883 0.9396 0.9894 Uncertain 12_123345736_C->G 12 123345736 123345736 C G snp 6906.77 1/1 99 247 0 247 1.0 exonic rs10847910 HIP1R AU synonymous SNV NM_003959 exon30 c.C2949G p.T983T 0.887979 0.9901 0.898816 0.9225 0.9895 1.0 P -1.026 T Likely benign 12_123345756_-->C 12 123345756 123345756 - C indel 3477.73 0/1 99 239 120 119 0.5 intronic rs3215148 HIP1R AU NM_003959 exon30 c.25642+17insC 0.765974 0.7659 0.829712 0.8341 0.7537 Uncertain 12_123345787_G->A 12 123345787 123345787 G A snp 2232.77 0/1 99 194 101 93 0.48 intronic rs76137672 HIP1R AU NM_003959 exon30 c.25642+48G>A 0.0810703 0.2212 0.029602 0.0538 0.2348 Uncertain 12_123346177_G->C 12 123346177 123346177 G C snp 2745.77 0/1 99 191 87 104 0.54 intronic rs75217947 HIP1R AU NM_003959 exon32 c.26155-75G>C 0.0806709 0.2222 0.027595 Uncertain 12_123352179_C->T 12 123352179 123352179 C T snp 834.77 0/1 99 64 28 36 0.56 intronic rs3825143 VPS37B AU NM_024667 exon1 c.492+25C>T 0.735823 0.7649 0.800784 0.8270 0.7539 Uncertain 12_123425575_C->T 12 123425575 123425575 C T snp 1177.77 0/1 99 131 77 54 0.41 intronic rs4148866 ABCB9 AU NM_019624 exon5 c.11085+33C>T 0.396765 0.6696 0.305081 0.4642 0.7021 Uncertain 12_123433137_T->C 12 123433137 123433137 T C snp 1090.77 1/1 78 36 0 36 1.0 intronic rs10848106 ABCB9 AU NM_019624 exon7 c.18713-33T>C 0.997005 1 0.997385 0.9992 1 Uncertain 12_123460823_A->G 12 123460823 123460823 A G snp 594.77 0/1 99 68 39 29 0.43 UTR5 rs883563 OGFOD2 AU 0.750998 0.8343 0.7860 0.8670 Uncertain 12_123460962_T->C 12 123460962 123460962 T C snp 1478.77 0/1 99 144 77 67 0.47 intronic rs884956 OGFOD2 AU NM_024623 exon3 c.9+14T>C 0.485224 0.6637 0.545261 0.6304 0.6732 Uncertain 12_123466111_C->T 12 123466111 123466111 C T snp 573.77 0/1 99 84 57 27 0.32 intronic rs55742290 ARL6IP4 AU NM_001278380 exon3 c.431-6C>T 0.48143 0.6438 0.528732 0.6812 0.7038 Uncertain 12_123471402_T->C 12 123471402 123471402 T C snp 1173.77 1/1 87 38 0 38 1.0 intronic rs2049506 PITPNM2 AU NM_020845 exon3 c.803+26T>C 0.996206 1 0.996769 0.9989 1 Uncertain 12_123473254_T->C 12 123473254 123473254 T C snp 742.77 0/1 99 59 30 29 0.49 intronic rs1463877 PITPNM2 AU NM_020845 exon8 c.2697-16T>C 0.786342 0.8542 0.788840 0.7806 0.8789 Uncertain 12_123476586_G->A 12 123476586 123476586 G A snp 1067.77 0/1 99 82 33 49 0.6 intronic rs7135296 PITPNM2 AU NM_001300801 exon10 c.5872+141G>A 0.482827 0.6607 Uncertain 12_123477311_T->C 12 123477311 123477311 T C snp 176.77 0/1 99 14 7 7 0.5 intronic rs937564 PITPNM2 AU NM_020845 exon11 c.6643+95T>C 0.779553 0.8522 Uncertain 12_123485188_A->G 12 123485188 123485188 A G snp 935.77 0/1 99 74 40 34 0.46 intronic rs883263 PITPNM2 AU NM_020845 exon17 c.14751-136A>G 0.778554 0.8552 Uncertain 12_123492112_C->T 12 123492112 123492112 C T snp 71.77 0/1 99 7 4 3 0.43 intronic rs3897102 PITPNM2 AU NM_020845 exon20 c.19522+2017C>T 0.391973 0.6617 Uncertain 12_123519014_C->T 12 123519014 123519014 C T snp 282.77 0/1 99 27 17 10 0.37 intronic rs2270789 PITPNM2 AU NM_020845 exon24 c.48486-45C>T 0.0389377 0.1429 0.001230 0.0169 0.1332 Uncertain 12_123645803_G->A 12 123645803 123645803 G A snp 7060.77 1/1 99 250 0 250 1.0 exonic rs1051431 MPHOSPH9 AU synonymous SNV NM_022782 exon22 c.C3261T p.Y1087Y 0.633187 0.9772 0.606105 0.7332 0.9752 Uncertain 12_123647725_G->C 12 123647725 123647725 G C snp 3488.77 1/1 99 115 0 115 1.0 intronic rs1727296 MPHOSPH9 AU NM_022782 exon5 c.6328+44G>C 0.633586 0.9772 0.605830 0.7322 0.9751 Uncertain 12_123651162_A->G 12 123651162 123651162 A G snp 1309.77 1/1 96 45 0 45 1.0 intronic rs1716167 MPHOSPH9 AU NM_022782 exon8 c.9848-39A>G 0.633986 0.9772 0.606259 0.7333 0.9752 Uncertain 12_123664438_A->C 12 123664438 123664438 A C snp 1332.77 1/1 96 49 0 49 1.0 intronic rs3759113 MPHOSPH9 AU NM_022782 exon10 c.23119-34A>C 0.081869 0.2698 0.031009 0.0692 0.3185 Uncertain 12_123665695_A->G 12 123665695 123665695 A G snp 1908.77 1/1 99 79 0 79 1.0 intronic rs1727306 MPHOSPH9 AU NM_022782 exon11 c.24356-14A>G 0.654553 0.998 0.616715 0.7481 0.9991 Uncertain 12_123687774_C->T 12 123687774 123687774 C T snp 4614.77 1/1 99 172 0 172 1.0 intronic rs3759111 MPHOSPH9 AU NM_022782 exon16 c.46443-22C>T 0.0900559 0.2698 0.038444 0.0542 0.2802 Uncertain 12_123694724_C->T 12 123694724 123694724 C T snp 2285.77 1/1 99 87 0 87 1.0 intronic rs2682434 MPHOSPH9 AU NM_022782 exon17 c.53356+15C>T 0.651957 0.998 0.611564 0.7450 0.9991 Uncertain 12_123699201_TTT->- 12 123699201 123699203 TTT - indel 862.73 1/1 48 16 0 16 1.0 intronic rs398056029 MPHOSPH9 AU NM_022782 exon18 c.57937-89_57937-87delTTT 0.651957 0.998 Uncertain 12_123699520_A->G 12 123699520 123699520 A G snp 2480.77 1/1 99 86 0 86 1.0 intronic rs1727322 MPHOSPH9 AU NM_022782 exon18 c.58028+139A>G 0.876997 0.998 Uncertain 12_123703103_T->C 12 123703103 123703103 T C snp 255.78 1/1 24 8 0 8 1.0 intronic rs2851451 MPHOSPH9 AU NM_022782 exon19 c.61693+57T>C 0.652556 0.998 Uncertain 12_123705962_C->T 12 123705962 123705962 C T snp 2472.77 1/1 99 81 0 81 1.0 exonic rs36121382 MPHOSPH9 AU nonsynonymous SNV NM_022782 exon5 c.G829A p.G277S 0.0924521 0.2679 0.039077 0.0557 0.2781 0.27 T 0.003 P -1.035 T 0.009 T 0.007 T Pathogenic 12_123707528_TA->- 12 123707528 123707529 TA - indel 4083.73 1/1 99 89 0 89 1.0 intronic rs34047404 MPHOSPH9 AU NM_022782 exon21 c.66231-56_66231-55delTA 0.38778 0.5675 Uncertain 12_123707553_A->- 12 123707553 123707553 A - indel 4932.73 1/1 99 141 0 141 1.0 intronic rs36043549 MPHOSPH9 AU NM_022782 exon21 c.66231-31delA 0.652556 0.998 0.7334 1 Uncertain 12_123714689_T->C 12 123714689 123714689 T C snp 218.84 1/1 18 6 0 6 1.0 intronic rs60077920 MPHOSPH9 AU NM_022782 exon23 c.73454-118T>C 0.0924521 0.2679 Uncertain 12_123714736_T->A 12 123714736 123714736 T A snp 675.77 1/1 51 21 0 21 1.0 intronic rs57676984 MPHOSPH9 AU NM_022782 exon23 c.73454-71T>A 0.0924521 0.2679 Uncertain 12_123715113_C->T 12 123715113 123715113 C T snp 141.03 1/1 12 4 0 4 1.0 intronic rs941306 MPHOSPH9 AU NM_022782 exon23 c.73716+44C>T 0.652955 0.998 Uncertain 12_123738494_C->T 12 123738494 123738494 C T snp 2421.77 1/1 99 89 0 89 1.0 exonic rs2280424 C12orf65 AR synonymous SNV NM_152269 exon2 c.C273T p.I91I 0.0908546 0.2569 0.040212 0.0569 0.2629 Uncertain 12_123746357_C->G 12 123746357 123746357 C G snp 5580.77 1/1 99 202 0 202 1.0 intronic rs4759416 CDK2AP1 AU NM_004642 exon1 c.68+7C>G 0.650559 0.998 0.609565 0.7408 0.9991 Uncertain 12_123746510_C->T 12 123746510 123746510 C T snp 2043.77 1/1 99 58 0 58 1.0 intronic rs4759417 CDK2AP1 AU NM_004642 exon1 c.68+160C>T 0.653355 0.998 Uncertain 12_123746531_C->G 12 123746531 123746531 C G snp 1008.77 1/1 75 26 0 26 1.0 intronic rs4759418 CDK2AP1 AU NM_004642 exon1 c.68+181C>G 0.0908546 0.2569 Uncertain 12_123751726_A->C 12 123751726 123751726 A C snp 1717.77 1/1 99 63 1 62 0.98 splicing rs2271976 CDK2AP1 AU NM_004642 exon3 c.5449-5A>C 0.164337 0.3125 0.097417 0.1250 0.3039 Pathogenic 12_123755970_G->A 12 123755970 123755970 G A snp 427.77 1/1 33 15 0 15 1.0 intronic rs145237336 CDK2AP1 AU NM_004642 exon4 c.9828-140G>A 0.0900559 0.2569 Uncertain 12_123782445_A->G 12 123782445 123782445 A G snp 343.78 1/1 27 9 0 9 1.0 intronic rs3803001 SBNO1 AU NM_018183 exon2 c.2070-79A>G 0.0888578 0.255 Uncertain 12_123787505_C->G 12 123787505 123787505 C G snp 1272.77 1/1 90 46 0 46 1.0 intronic rs58537268 SBNO1 AU NM_018183 exon3 c.6993+58C>G 0.0888578 0.255 0.041630 Uncertain 12_123787558_A->G 12 123787558 123787558 A G snp 565.77 1/1 42 18 0 18 1.0 intronic rs60755632 SBNO1 AU NM_018183 exon3 c.6993+111A>G 0.0888578 0.255 Uncertain 12_123789056_T->G 12 123789056 123789056 T G snp 187.9 1/1 15 7 0 7 1.0 intronic rs76576325 SBNO1 AU NM_018183 exon4 c.8674-72T>G 0.0886581 0.255 0.0775 0.3388 Uncertain 12_123794022_T->C 12 123794022 123794022 T C snp 4662.77 1/1 99 160 0 160 1.0 intronic rs6488867 SBNO1 AU NM_018183 exon6 c.13581-13T>C 0.944888 0.999 0.940412 0.9832 1 Uncertain 12_123794104_G->T 12 123794104 123794104 G T snp 3356.77 1/1 99 106 0 106 1.0 exonic rs3825141 SBNO1 AU synonymous SNV NM_001167856 exon26 c.C3469A p.R1157R 0.0888578 0.255 0.039828 0.0561 0.2558 Uncertain 12_123795580_C->T 12 123795580 123795580 C T snp 3175.77 1/1 99 107 0 107 1.0 intronic rs76466196 SBNO1 AU NM_018183 exon8 c.15147-21C>T 0.0888578 0.255 0.039751 0.0561 0.2570 Uncertain 12_123795759_G->C 12 123795759 123795759 G C snp 3501.77 1/1 99 120 0 120 1.0 intronic rs80336138 SBNO1 AU NM_018183 exon8 c.15222+83G>C 0.0888578 0.255 Uncertain 12_123798271_A->- 12 123798271 123798271 A - indel 929.73 1/1 90 35 0 35 1.0 splicing rs63621660 SBNO1 AU NM_018183 exon9 c.17812+5delA 0.0886581 0.254 0.041733 0.0745 0.2919 Pathogenic 12_123798352_C->T 12 123798352 123798352 C T snp 223.84 1/1 18 8 0 8 1.0 intronic rs74690356 SBNO1 AU NM_018183 exon9 c.17812+86C>T 0.0888578 0.254 Uncertain 12_123799938_C->T 12 123799938 123799938 C T snp 4593.77 1/1 99 163 0 163 1.0 exonic rs61751327 SBNO1 AU synonymous SNV NM_001167856 exon22 c.G3102A p.R1034R 0.0888578 0.254 0.039828 0.0562 0.2547 Uncertain 12_123799974_A->G 12 123799974 123799974 A G snp 6122.77 1/1 99 225 1 224 1.0 exonic rs6488868 SBNO1 AU synonymous SNV NM_001167856 exon22 c.T3066C p.G1022G 0.685104 0.9544 0.658465 0.7088 0.9631 Uncertain 12_123801672_T->G 12 123801672 123801672 T G snp 4369.77 1/1 99 155 1 154 0.99 intronic rs10846515 SBNO1 AU NM_018183 exon12 c.21313-95T>G 0.755391 0.998 Uncertain 12_123801940_A->G 12 123801940 123801940 A G snp 1794.77 1/1 99 55 0 55 1.0 intronic rs57416942 SBNO1 AU NM_018183 exon12 c.21449+37A>G 0.0884585 0.254 0.039597 0.0573 0.2618 Uncertain 12_123804390_T->C 12 123804390 123804390 T C snp 1729.77 1/1 99 48 0 48 1.0 intronic rs80058611 SBNO1 AU NM_018183 exon13 c.23992-56T>C 0.0886581 0.254 Uncertain 12_123804721_G->C 12 123804721 123804721 G C snp 872.77 1/1 66 23 0 23 1.0 intronic rs12366872 SBNO1 AU NM_018183 exon13 c.24124+143G>C 0.159345 0.2976 Uncertain 12_123879666_A->G 12 123879666 123879666 A G snp 342.77 0/1 99 165 131 34 0.21 exonic rs61955119 SETD8 AU nonsynonymous SNV NM_020382 exon4 c.A362G p.K121R 0.4 T 1 N -0.176 T 0.0 T 0.0 T Pathogenic 12_123879668_G->C 12 123879668 123879668 G C snp 373.77 0/1 99 160 126 34 0.21 exonic rs61955120 SETD8 AU nonsynonymous SNV NM_020382 exon4 c.G364C p.G122R 0.74 T 0.896 D 0.798 D 0.919 T 0.483 D Pathogenic 12_123889492_A->C 12 123889492 123889492 A C snp 170.77 0/1 99 68 46 22 0.32 exonic rs61955124 SETD8 AU nonsynonymous SNV NM_020382 exon7 c.A719C p.D240A 0.03 T 1.000 D -0.230 T 0.53 P 0.128 P Pathogenic 12_123892095_T->C 12 123892095 123892095 T C snp 731.77 0/1 99 250 203 47 0.19 exonic rs61955126 SETD8 AU nonsynonymous SNV NM_020382 exon8 c.T904C p.C302R 8.243e-06 0 0.08 T 1 D -0.746 T 0.015 T 0.033 T Pathogenic 12_123892186_T->C 12 123892186 123892186 T C snp 588.77 0/1 99 180 136 44 0.24 exonic rs61955127 SETD8 AU nonsynonymous SNV NM_020382 exon8 c.T995C p.L332P 0.01 T 1 D 1.075 D 1.0 D 1.0 D Pathogenic 12_123892235_G->A 12 123892235 123892235 G A snp 509.77 0/1 99 94 65 29 0.31 exonic rs61955128 SETD8 AU synonymous SNV NM_020382 exon8 c.G1044A p.P348P 0.00519169 0.003 0.0001 0 Uncertain 12_123960169_G->T 12 123960169 123960169 G T snp 125.77 0/1 99 26 20 6 0.23 intronic rs77539620 RILPL1 AU NM_178314 exon1 c.145+2940G>T 0.0367412 0.1458 0.000239 0.0156 0.1990 Uncertain 12_124008073_A->G 12 124008073 124008073 A G snp 4092.77 1/1 99 160 0 160 1.0 exonic rs2292500 RILPL1 AU synonymous SNV NM_178314 exon2 c.T429C p.N143N 0.817692 0.9097 0.790164 0.8481 0.9069 Uncertain 12_124069112_GGC->- 12 124069112 124069114 GGC - indel 1093.73 1/1 69 23 0 23 1.0 UTR5 rs398056033 TMED2 AU Uncertain 12_124069213_T->C 12 124069213 124069213 T C snp 2703.77 1/1 99 107 1 106 0.99 exonic rs786446 TMED2 AU synonymous SNV NM_006815 exon1 c.T30C p.L10L 0.989018 1 0.987160 0.9967 1 Uncertain 12_124086620_G->C 12 124086620 124086620 G C snp 867.77 1/1 63 27 0 27 1.0 upstream rs786427 DDX55 AU 0.989018 1 Uncertain 12_124086998_C->G 12 124086998 124086998 C G snp 254.8 1/1 21 7 0 7 1.0 intronic rs786428 DDX55 AU NM_020936 exon1 c.108+195C>G 0.868211 0.9702 Uncertain 12_124090453_A->G 12 124090453 124090453 A G snp 3248.77 1/1 99 107 0 107 1.0 intronic rs786436 DDX55 AU NM_020936 exon2 c.3782-24A>G 0.988818 1 0.986237 0.9964 0.9999 Uncertain 12_124090606_CT->- 12 124090606 124090607 CT - indel 6921.73 1/1 99 152 0 152 1.0 intronic rs398056034 DDX55 AU NM_020936 exon3 c.3924-13_3924-12delCT 0.868011 0.9702 0.824601 0.8881 0.9742 Uncertain 12_124090814_G->A 12 124090814 124090814 G A snp 99.28 1/1 9 3 0 3 1.0 intronic rs786437 DDX55 AU NM_020936 exon3 c.4011+108G>A 0.868211 0.9702 Uncertain 12_124207098_T->C 12 124207098 124207098 T C snp 1736.77 1/1 99 61 0 61 1.0 intronic rs7301641 ATP6V0A2 AR NM_012463 exon3 c.9883+103T>C 0.750998 0.9474 Uncertain 12_124209332_T->C 12 124209332 124209332 T C snp 2033.77 1/1 99 81 0 81 1.0 exonic rs1139789 ATP6V0A2 AR synonymous SNV NM_012463 exon4 c.T426C p.N142N 0.750998 0.9474 0.646625 0.6792 0.9453 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000081551.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 12_124209352_C->T 12 124209352 124209352 C T snp 1818.77 1/1 99 71 0 71 1.0 intronic rs11837144 ATP6V0A2 AR NM_012463 exon4 c.12226+14C>T 0.7498 0.9474 0.639859 0.6756 0.9457 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000081552.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 12_124210782_T->C 12 124210782 124210782 T C snp 3525.77 1/1 99 134 0 134 1.0 exonic rs1399961 ATP6V0A2 AR synonymous SNV NM_012463 exon5 c.T471C p.S157S 0.7498 0.9474 0.639859 0.6756 0.9453 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000081553.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 12_124218359_T->G 12 124218359 124218359 T G snp 1659.77 1/1 99 56 0 56 1.0 intronic rs10744159 ATP6V0A2 AR NM_012463 exon7 c.21360-113T>G 0.75 0.9474 Uncertain 12_124219910_T->C 12 124219910 124219910 T C snp 588.77 1/1 45 15 0 15 1.0 intronic rs2271661 ATP6V0A2 AR NM_012463 exon8 c.22965-167T>C 0.679712 0.9464 Uncertain 12_124220055_T->C 12 124220055 124220055 T C snp 5490.77 1/1 99 194 0 194 1.0 intronic rs2271660 ATP6V0A2 AR NM_012463 exon8 c.22965-22T>C 0.679912 0.9464 0.571505 0.6415 0.9439 Uncertain 12_124220354_A->C 12 124220354 124220354 A C snp 56.74 1/1 6 2 0 2 1.0 intronic rs2333838 ATP6V0A2 AR NM_012463 exon8 c.23059+183A>C 0.680911 0.9464 Uncertain 12_124228201_A->- 12 124228201 124228201 A - indel 155.8 1/1 18 6 0 6 1.0 intronic rs10715944 ATP6V0A2 AR NM_012463 exon10 c.31219-130delA 0.66234 0.9454 Uncertain 12_124229429_T->C 12 124229429 124229429 T C snp 3951.77 1/1 99 143 0 143 1.0 exonic rs7135542 ATP6V0A2 AR synonymous SNV NM_012463 exon13 c.T1515C p.N505N 0.799521 0.9504 0.695371 0.6934 0.9485 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000081547.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 12_124258887_T->C 12 124258887 124258887 T C snp 1107.77 1/1 81 31 0 31 1.0 intronic rs7131750 DNAH10 AU NM_207437 exon5 c.11745+76T>C 0.574481 0.9544 Uncertain 12_124265687_T->C 12 124265687 124265687 T C snp 5767.77 1/1 99 215 0 215 1.0 exonic rs11057353 DNAH10 AU nonsynonymous SNV NM_207437 exon6 c.T499C p.S167P 0.713259 0.9573 0.606336 0.6632 0.9473 0.34 T 0.0 P -1.004 T 0.0 T 0.0 T Pathogenic 12_124267638_A->G 12 124267638 124267638 A G snp 1927.77 1/1 99 72 0 72 1.0 intronic rs11057354 DNAH10 AU NM_207437 exon7 c.20587-15A>G 0.963059 0.999 0.928110 0.9133 0.9997 Uncertain 12_124267703_T->C 12 124267703 124267703 T C snp 2096.77 1/1 99 79 0 79 1.0 exonic rs11057355 DNAH10 AU synonymous SNV NM_207437 exon7 c.T708C p.S236S 0.801318 0.996 0.666769 0.6702 0.9992 Uncertain 12_124268458_A->G 12 124268458 124268458 A G snp 1950.77 1/1 99 56 0 56 1.0 intronic rs7303002 DNAH10 AU NM_207437 exon8 c.21427-35A>G 0.800719 0.997 0.666231 0.6825 0.9990 Uncertain 12_124274394_G->A 12 124274394 124274394 G A snp 892.77 0/1 99 46 13 33 0.72 intronic rs540692750 DNAH10 AU NM_207437 exon11 c.27407-79G>A 0.000798722 0.004 Uncertain 12_124274474_A->G 12 124274474 124274474 A G snp 3666.77 1/1 99 118 0 118 1.0 exonic rs10846559 DNAH10 AU nonsynonymous SNV NM_207437 exon11 c.A1438G p.I480V 0.837859 0.998 0.730586 0.7294 0.9994 0.000 P -0.960 T 0.0 T 0.001 T Pathogenic 12_124325977_T->G 12 124325977 124325977 T G snp 3384.77 1/1 99 121 0 121 1.0 exonic rs4930729 DNAH10 AU nonsynonymous SNV NM_207437 exon29 c.T4891G p.L1631V 0.786142 0.5327 0.917206 0.8344 0.5026 1 T 0.0 P -0.864 T 0.0 T 0.0 T Pathogenic 12_124332702_A->G 12 124332702 124332702 A G snp 489.77 0/1 99 31 14 17 0.55 intronic rs10846561 DNAH10 AU NM_207437 exon32 c.85576+60A>G 0.366014 0.2639 Uncertain 12_124333519_C->T 12 124333519 124333519 C T snp 329.77 0/1 99 21 9 12 0.57 intronic rs7960854 DNAH10 AU NM_207437 exon33 c.86363+90C>T 0.371805 0.2282 Uncertain 12_124350360_G->C 12 124350360 124350360 G C snp 413.77 0/1 99 18 6 12 0.67 intronic rs7313897 DNAH10 AU NM_207437 exon40 c.103431-137G>C 0.501997 0.2857 Uncertain 12_124350444_C->T 12 124350444 124350444 C T snp 813.77 0/1 99 76 38 38 0.5 intronic rs7314963 DNAH10 AU NM_207437 exon40 c.103431-53C>T 0.374601 0.2312 Uncertain 12_124350704_T->C 12 124350704 124350704 T C snp 306.77 0/1 99 17 7 10 0.59 intronic rs10773043 DNAH10 AU NM_207437 exon40 c.103554+84T>C 0.378594 0.2321 Uncertain 12_124352338_T->G 12 124352338 124352338 T G snp 267.77 0/1 99 28 18 10 0.36 intronic rs10846565 DNAH10 AU NM_207437 exon42 c.105383-111T>G 0.340056 0.2312 Uncertain 12_124360117_G->T 12 124360117 124360117 G T snp 86.77 0/1 99 15 11 4 0.27 intronic rs10846567 DNAH10 AU NM_207437 exon46 c.112972+79G>T 0.479034 0.2847 Uncertain 12_124362256_-->G 12 124362256 124362256 - G indel 531.73 0/1 99 37 15 22 0.59 intronic rs113178558 DNAH10 AU NM_207437 exon47 c.115216-26insG 0.499744 0.4732 0.2743 Uncertain 12_124363725_TGTC->- 12 124363725 124363728 TGTC - indel 351.8 1/1 18 6 0 6 1.0 intronic rs397804121 DNAH10 AU NM_207437 exon48 c.116744-85_116744-82delTGTC 1 1 Uncertain 12_124364131_G->C 12 124364131 124364131 G C snp 737.77 0/1 99 58 31 27 0.47 intronic rs1317312 DNAH10 AU NM_207437 exon49 c.117114-49G>C 0.473842 0.2867 0.530353 0.4953 0.2680 Uncertain 12_124366151_T->- 12 124366151 124366151 T - indel 492.73 0/1 99 47 20 27 0.57 intronic rs34756279 DNAH10 AU NM_207437 exon50 c.119105-20delT 0.5145 0.4646 Uncertain 12_124383044_T->C 12 124383044 124383044 T C snp 143.77 0/1 99 18 10 8 0.44 intronic rs12306328 DNAH10 AU NM_207437 exon55 c.136133-155T>C 0.335064 0.2827 Uncertain 12_124387574_G->A 12 124387574 124387574 G A snp 1548.77 0/1 99 121 55 66 0.55 exonic rs58411567 DNAH10 AU synonymous SNV NM_207437 exon56 c.G9375A p.E3125E 0.335663 0.2788 0.300601 0.3055 0.3283 Uncertain 12_124387586_A->G 12 124387586 124387586 A G snp 1455.77 0/1 99 118 54 64 0.54 exonic rs61587964 DNAH10 AU synonymous SNV NM_207437 exon56 c.A9387G p.A3129A 0.358027 0.2788 0.322292 0.3009 0.3104 Uncertain 12_124398843_-->CTG 12 124398843 124398843 - CTG indel 4352.73 0/1 99 169 87 82 0.49 intronic rs113172657 DNAH10 AU NM_207437 exon60 c.151809-32insCTG 0.315695 0.251 0.310095 0.2771 0.2441 Uncertain 12_124399155_G->A 12 124399155 124399155 G A snp 988.77 0/1 99 68 30 38 0.56 intronic rs79478560 DNAH10 AU NM_207437 exon60 c.152031+58G>A 0.389776 0.247 0.3822 0.2511 Uncertain 12_124415973_G->A 12 124415973 124415973 G A snp 2014.77 0/1 99 172 83 89 0.52 exonic rs373714467 DNAH10 AU synonymous SNV NM_207437 exon73 c.G12516A p.A4172A 0.00219649 0.0109 0.0007 0.0100 ID=COSM202856,COSM202857;OCCURENCE=1(large_intestine) Uncertain 12_124427987_C->T 12 124427987 124427987 C T snp 1626.77 0/1 99 134 62 72 0.54 exonic rs150024637 CCDC92 AU nonsynonymous SNV NM_001304961 exon2 c.G37A p.A13T 0.00219649 0.0109 0.000077 0.0007 0.0097 0.16 T 1 D -0.447 T 1.0 D 0.998 D Pathogenic 12_124796511_T->G 12 124796511 124796511 T G snp 46.77 0/1 75 57 42 15 0.26 intronic FAM101A AU NM_181709 exon2 c.74+38T>G Uncertain 12_124798801_C->T 12 124798801 124798801 C T snp 2559.77 0/1 99 209 106 103 0.49 exonic rs12318072 FAM101A AU synonymous SNV NM_181709 exon3 c.C138T p.P46P 0.349241 0.4117 0.256728 0.2513 0.4183 Uncertain 12_124799159_C->A 12 124799159 124799159 C A snp 732.77 0/1 99 67 37 30 0.45 UTR3 rs79387110 FAM101A AU 0.0970447 0.0942 0.0731 0.0897 Uncertain 12_124809925_-->CG 12 124809925 124809925 - CG indel 493.25 1/1 9 14 2 12 0.86 UTR3 rs368678225 NCOR2 AU 0.882188 0.9901 0.301510 0.4600 0.75 Uncertain 12_124810668_C->T 12 124810668 124810668 C T snp 123.78 0/1 27 5 1 4 0.8 intronic rs75940096 NCOR2 AU NM_006312 exon2 c.789-68C>T 0.0173722 0.0813 Uncertain 12_124810968_C->T 12 124810968 124810968 C T snp 781.77 0/1 99 64 29 35 0.55 intronic rs1006100 NCOR2 AU NM_006312 exon2 c.969+52C>T 0.836462 0.9008 0.823284 0.8185 0.9045 Uncertain 12_124820013_A->G 12 124820013 124820013 A G snp 607.77 0/1 99 60 31 29 0.48 intronic rs1106317 NCOR2 AU NM_006312 exon9 c.10081-15A>G 0.40655 0.4901 0.292633 0.3057 0.4904 Uncertain 12_124821696_C->T 12 124821696 124821696 C T snp 1193.77 0/1 99 91 44 47 0.52 exonic rs2229842 NCOR2 AU synonymous SNV NM_006312 exon40 c.G5718A p.P1906P 0.255391 0.5079 0.132593 0.2427 0.5768 0.995 P -0.955 T Likely benign 12_124824721_-->GCCGCTGCT 12 124824721 124824721 - GCCGCTGCT indel 7588.73 1/1 99 121 0 121 1.0 exonic rs143952466 NCOR2 AU nonframeshift insertion NM_006312 exon39 c.5517_5518insAGCAGCGGC p.G1840delinsSSGG 0.950879 0.9633 0.9921 0.9960 ID=COSM1359887,COSM1359888;OCCURENCE=10(large_intestine),6(breast) Uncertain 12_124825447_A->G 12 124825447 124825447 A G snp 852.77 1/1 63 24 0 24 1.0 intronic rs1702334 NCOR2 AU NM_006312 exon13 c.15350+150A>G 0.980032 1 Uncertain 12_124826462_C->T 12 124826462 124826462 C T snp 1801.77 0/1 99 164 86 78 0.48 exonic rs2229840 NCOR2 AU nonsynonymous SNV NM_006312 exon36 c.G5095A p.A1699T 0.160942 0.1071 0.146781 0.1705 0.1064 0.34 T 1.000 P -1.025 T 1.0 D 0.99 D Pathogenic 12_124826598_T->C 12 124826598 124826598 T C snp 708.77 0/1 99 60 33 27 0.45 exonic rs2230942 NCOR2 AU synonymous SNV NM_006312 exon36 c.A4959G p.R1653R 0.185903 0.377 0.131865 0.1100 0.3967 1.0 P -0.963 T Likely benign 12_124826676_C->T 12 124826676 124826676 C T snp 88.77 0/1 61 7 2 5 0.71 intronic rs12314162 NCOR2 AU NM_006312 exon14 c.16673+56C>T 0.20028 0.1131 Uncertain 12_124831067_C->A 12 124831067 124831067 C A snp 265.8 1/1 21 9 0 9 1.0 intronic rs2272370 NCOR2 AU NM_006312 exon17 c.21162-42C>A 0.365415 0.4603 0.259011 0.3950 0.5177 Uncertain 12_124832474_G->A 12 124832474 124832474 G A snp 2577.77 1/1 99 97 1 96 0.99 intronic rs1244065 NCOR2 AU NM_006312 exon18 c.22510+17G>A 0.757588 0.7897 0.831221 0.7736 0.8086 Uncertain 12_124832492_C->G 12 124832492 124832492 C G snp 2511.77 1/1 99 90 0 90 1.0 intronic rs1244064 NCOR2 AU NM_006312 exon18 c.22510+35C>G 0.909145 0.8552 0.968855 0.9521 0.8529 Uncertain 12_124832606_A->G 12 124832606 124832606 A G snp 1812.77 1/1 99 60 0 60 1.0 intronic rs1244063 NCOR2 AU NM_006312 exon19 c.22772-113A>G 0.765775 0.7897 Uncertain 12_124834922_T->C 12 124834922 124834922 T C snp 90.28 1/1 9 3 0 3 1.0 intronic rs1244059 NCOR2 AU NM_006312 exon20 c.25185-210T>C 0.915935 0.87 Uncertain 12_124835352_A->C 12 124835352 124835352 A C snp 882.77 1/1 66 25 0 25 1.0 intronic rs4765551 NCOR2 AU NM_006312 exon20 c.25336+69A>C 0.357428 0.4494 Uncertain 12_124838591_C->G 12 124838591 124838591 C G snp 1311.77 1/1 96 43 0 43 1.0 intronic rs4765555 NCOR2 AU NM_006312 exon21 c.28691-47C>G 0.356629 0.4494 0.297177 0.3516 0.5021 Uncertain 12_124838772_C->G 12 124838772 124838772 C G snp 5823.77 1/1 99 207 0 207 1.0 intronic rs1244082 NCOR2 AU NM_006312 exon21 c.28795+30C>G 0.983027 1 0.986547 0.9949 1 Uncertain 12_124838774_T->A 12 124838774 124838774 T A snp 5675.77 1/1 99 207 1 206 1.0 intronic rs3817108 NCOR2 AU NM_006312 exon21 c.28795+32T>A 0.357827 0.4494 0.292581 0.3596 0.5260 Uncertain 12_124838897_A->G 12 124838897 124838897 A G snp 3015.77 1/1 99 104 0 104 1.0 intronic rs1244081 NCOR2 AU NM_006312 exon22 c.29076-126A>G 0.974241 1 Uncertain 12_124839150_G->A 12 124839150 124839150 G A snp 3126.77 1/1 99 115 0 115 1.0 intronic rs2271142 NCOR2 AU NM_006312 exon22 c.29181+22G>A 0.357228 0.4464 0.283206 0.4439 0.5575 Uncertain 12_124839165_G->A 12 124839165 124839165 G A snp 2656.77 1/1 99 99 0 99 1.0 intronic rs2271141 NCOR2 AU NM_006312 exon22 c.29181+37G>A 0.357428 0.4474 0.276885 0.4411 0.5541 Uncertain 12_124839540_C->A 12 124839540 124839540 C A snp 3306.77 1/1 99 126 0 126 1.0 intronic rs2271139 NCOR2 AU NM_006312 exon23 c.29538+55C>A 0.355232 0.4474 Uncertain 12_124839899_T->C 12 124839899 124839899 T C snp 507.77 1/1 39 20 0 20 1.0 intronic rs870051 NCOR2 AU NM_006312 exon24 c.30030-78T>C 0.416134 0.5913 Uncertain 12_124839945_T->C 12 124839945 124839945 T C snp 1007.77 1/1 72 38 0 38 1.0 intronic rs870052 NCOR2 AU NM_006312 exon24 c.30030-32T>C 0.419928 0.5913 0.308928 0.3722 0.6070 Uncertain 12_124841421_C->T 12 124841421 124841421 C T snp 802.77 1/1 60 25 0 25 1.0 intronic rs4765144 NCOR2 AU NM_001206654 exon25 c.31405+69C>T 0.354034 0.4454 Uncertain 12_124846876_G->A 12 124846876 124846876 G A snp 496.77 0/1 99 56 36 20 0.36 intronic rs2271136 NCOR2 AU NM_006312 exon26 c.36896+33G>A 0.0255591 0.1052 0.000710 0.0161 0.1498 Uncertain 12_124848137_T->C 12 124848137 124848137 T C snp 942.77 1/1 69 32 0 32 1.0 intronic rs1794956 NCOR2 AU NM_006312 exon27 c.38277-87T>C 0.922724 0.9663 Uncertain 12_124856660_T->A 12 124856660 124856660 T A snp 2287.77 0/1 99 159 68 91 0.57 exonic rs3741513 NCOR2 AU synonymous SNV NM_006312 exon22 c.A2715T p.T905T 0.385184 0.1677 0.526545 0.5358 0.1977 Uncertain 12_124857234_C->G 12 124857234 124857234 C G snp 831.77 1/1 60 27 0 27 1.0 intronic rs1702329 NCOR2 AU NM_006312 exon28 c.47209+78C>G 0.98103 1 Uncertain 12_124857249_T->C 12 124857249 124857249 T C snp 276.77 0/1 99 15 6 9 0.6 intronic rs117004646 NCOR2 AU NM_006312 exon28 c.47209+93T>C 0.0241613 0.1062 Uncertain 12_124857274_G->A 12 124857274 124857274 G A snp 37.77 0/1 66 4 2 2 0.5 intronic rs4765147 NCOR2 AU NM_006312 exon28 c.47209+118G>A 0.332268 0.1518 Uncertain 12_124859045_A->G 12 124859045 124859045 A G snp 3949.77 1/1 99 150 0 150 1.0 intronic rs2695993 NCOR2 AU NM_006312 exon29 c.49062+36A>G 0.923522 0.9554 0.953841 0.9703 0.9647 Uncertain 12_124859135_G->A 12 124859135 124859135 G A snp 680.77 0/1 99 54 28 26 0.48 intronic rs11057606 NCOR2 AU NM_006312 exon29 c.49062+126G>A 0.315495 0.1508 Uncertain 12_124862769_G->T 12 124862769 124862769 G T snp 915.77 0/1 99 91 47 44 0.48 intronic rs3741515 NCOR2 AU NM_006312 exon30 c.52835-13G>T 0.157348 0.1796 0.090358 0.0901 0.1521 Uncertain 12_124873079_T->G 12 124873079 124873079 T G snp 546.77 0/1 99 35 16 19 0.54 intronic rs7960906 NCOR2 AU NM_006312 exon31 c.60486+2646T>G 0.248203 0.1538 Uncertain 12_124885249_C->T 12 124885249 124885249 C T snp 3962.77 1/1 99 152 0 152 1.0 intronic rs2293514 NCOR2 AU NM_006312 exon33 c.75272+30C>T 0.584265 0.7312 0.582094 0.6490 0.7380 Uncertain 12_124885290_T->C 12 124885290 124885290 T C snp 3135.77 1/1 99 107 0 107 1.0 intronic rs2293513 NCOR2 AU NM_006312 exon33 c.75272+71T>C 0.584465 0.7312 Uncertain 12_124887059_GCTGCTGCT->- 12 124887059 124887067 GCTGCTGCT - indel 698.73 0/1 99 23 6 17 0.74 exonic rs559681337 NCOR2 AU nonframeshift deletion NM_006312 exon16 c.1523_1531del p.508_511del 0.0221645 0.0863 0.0099 0.0761 Uncertain 12_124911058_T->C 12 124911058 124911058 T C snp 299.77 0/1 99 18 9 9 0.5 intronic rs75158921 NCOR2 AU NM_006312 exon37 c.101220-109T>C 0.0247604 0.0893 Uncertain 12_124915091_T->C 12 124915091 124915091 T C snp 631.77 1/1 48 19 0 19 1.0 intronic rs1244096 NCOR2 AU NM_006312 exon39 c.105213-69T>C 0.945088 0.998 Uncertain 12_124915431_T->C 12 124915431 124915431 T C snp 436.77 0/1 99 31 15 16 0.52 intronic rs59053140 NCOR2 AU NM_006312 exon39 c.105386+98T>C 0.243411 0.0982 Uncertain 12_124922325_C->T 12 124922325 124922325 C T snp 126.77 0/1 99 15 10 5 0.33 intronic rs1702322 NCOR2 AU NM_006312 exon40 c.112528-150C>T 0.608826 0.7153 Uncertain 12_124922332_G->A 12 124922332 124922332 G A snp 378.77 0/1 99 17 6 11 0.65 intronic rs3782272 NCOR2 AU NM_006312 exon40 c.112528-143G>A 0.00778754 0.0387 Uncertain 12_124934459_C->G 12 124934459 124934459 C G snp 2832.77 1/1 99 97 0 97 1.0 intronic rs1147284 NCOR2 AU NM_006312 exon41 c.124466+46C>G 0.964657 0.999 0.966256 0.9839 0.9996 Uncertain 12_124934501_G->A 12 124934501 124934501 G A snp 964.77 0/1 99 58 21 37 0.64 intronic rs74725855 NCOR2 AU NM_006312 exon41 c.124466+88G>A 0.0245607 0.0853 Uncertain 12_124968349_T->C 12 124968349 124968349 T C snp 1250.77 0/1 99 105 56 49 0.47 intronic rs747443 NCOR2 AU NM_006312 exon45 c.158372+30T>C 0.547724 0.5476 0.609009 0.6608 0.5739 Uncertain 12_124979833_C->G 12 124979833 124979833 C G snp 1026.77 1/1 75 37 0 37 1.0 UTR5 rs872224 NCOR2 AU 0.446286 0.4325 0.412224 0.5261 0.4764 Uncertain 12_125263061_C->T 12 125263061 125263061 C T snp 488.77 0/1 99 42 18 24 0.57 UTR3 rs3825140 SCARB1 AU 0.110224 0.4276 0.001764 0.0912 0.5220 Uncertain 12_125263204_A->C 12 125263204 125263204 A C snp 264.8 1/1 21 7 0 7 1.0 intronic rs701104 SCARB1 AU NM_001082959 exon1 c.120+72A>C 0.927915 0.994 Uncertain 12_125270773_A->G 12 125270773 125270773 A G snp 2735.77 0/1 99 195 91 104 0.53 intronic rs2293440 SCARB1 AU NM_005505 exon3 c.3674-129A>G 0.241014 0.4573 0.1300 0.4453 0.01 T 0.0 P -0.979 T 0.0 T 0.001 T Uncertain 12_125271090_G->C 12 125271090 125271090 G C snp 2159.77 0/1 99 182 102 80 0.44 intronic rs838897 SCARB1 AU NM_005505 exon3 c.3821+41G>C 0.253594 0.4613 0.150930 0.1324 0.4387 Uncertain 12_125271101_A->C 12 125271101 125271101 A C snp 1611.77 0/1 99 143 79 64 0.45 intronic rs2293439 SCARB1 AU NM_005505 exon3 c.3821+52A>C 0.107228 0.4246 0.001925 0.0550 0.4019 Uncertain 12_125284748_A->G 12 125284748 125284748 A G snp 299.77 0/1 99 39 23 16 0.41 exonic rs5888 SCARB1 AU synonymous SNV NM_005505 exon8 c.T1050C p.A350A 0.677117 0.7599 0.618407 0.5852 0.7465 ID=CM994636;DIS=Lipoprotein levels, association with;TAG=DFP;PUB=12519372 DFP Uncertain 12_125298877_G->A 12 125298877 125298877 G A snp 723.77 0/1 99 70 35 35 0.5 exonic rs5889 SCARB1 AU synonymous SNV NM_005505 exon4 c.C501T p.G167G 0.109425 0.4187 0.001845 0.0559 0.4077 Uncertain 12_125302341_C->T 12 125302341 125302341 C T snp 1282.77 0/1 99 75 32 43 0.57 intronic rs11057824 SCARB1 AU NM_005505 exon12 c.35025+88C>T 0.105831 0.4196 Uncertain 12_125302400_C->T 12 125302400 125302400 C T snp 270.77 0/1 99 14 6 8 0.57 intronic rs11057825 SCARB1 AU NM_005505 exon12 c.35025+147C>T 0.108427 0.4206 Uncertain 12_125302553_C->A 12 125302553 125302553 C A snp 294.77 0/1 99 22 10 12 0.55 intronic rs11057826 SCARB1 AU NM_005505 exon12 c.35025+300C>A 0.108626 0.4216 Uncertain 12_125324472_C->A 12 125324472 125324472 C A snp 369.77 0/1 34 27 12 15 0.56 intronic rs59427140 SCARB1 AU NM_005505 exon12 c.35025+22219C>A Uncertain 12_125324512_C->T 12 125324512 125324512 C T snp 1027.77 0/1 99 84 39 45 0.54 intronic rs12824656 SCARB1 AU NM_005505 exon12 c.35025+22259C>T Uncertain 12_125324553_C->T 12 125324553 125324553 C T snp 3209.76 1/1 99 149 12 137 0.92 intronic rs55900974 SCARB1 AU NM_005505 exon12 c.35025+22300C>T Uncertain 12_125324566_G->A 12 125324566 125324566 G A snp 3354.77 1/1 99 162 18 144 0.89 intronic rs57990189 SCARB1 AU NM_005505 exon12 c.35025+22313G>A 0.20028 0.252 Uncertain 12_125324570_C->T 12 125324570 125324570 C T snp 3754.77 1/1 99 166 17 149 0.9 intronic rs60187316 SCARB1 AU NM_005505 exon12 c.35025+22317C>T 0.670527 0.6786 Uncertain 12_125324694_C->T 12 125324694 125324694 C T snp 1235.77 0/1 99 73 30 43 0.59 intronic rs112916213 SCARB1 AU NM_005505 exon12 c.35025+22441C>T 0.0838658 0.2292 Uncertain 12_125400206_A->G 12 125400206 125400206 A G snp 149.03 1/1 12 7 0 7 1.0 upstream;downstream rs6488957 UBC;MIR5188 UN 0.920727 1 0.9583 . Uncertain 12_125434434_C->G 12 125434434 125434434 C G snp 511.77 1/1 39 13 0 13 1.0 intronic rs4562928 DHX37 AU NM_032656 exon3 c.2184-97C>G 0.657348 0.8462 Uncertain 12_125434580_C->T 12 125434580 125434580 C T snp 5690.77 1/1 99 210 0 210 1.0 exonic rs4447263 DHX37 AU nonsynonymous SNV NM_032656 exon25 c.G3242A p.R1081Q 0.648363 0.8452 0.528295 0.6448 0.8449 0.34 T 0.0 P -0.903 T 0.04 T 0.005 T Pathogenic 12_125434716_G->A 12 125434716 125434716 G A snp 6814.77 1/1 99 250 1 249 1.0 exonic rs4078216 DHX37 AU synonymous SNV NM_032656 exon24 c.C3195T p.A1065A 0.258786 0.5605 0.180455 0.2601 0.5652 Uncertain 12_125435388_C->T 12 125435388 125435388 C T snp 2080.77 1/1 99 66 0 66 1.0 intronic rs10773125 DHX37 AU NM_032656 exon6 c.3003+38C>T 0.58746 0.7917 0.476242 0.5946 0.7949 Uncertain 12_125436850_G->A 12 125436850 125436850 G A snp 583.77 1/1 45 17 0 17 1.0 intronic rs4375522 DHX37 AU NM_032656 exon7 c.4596-93G>A 0.65615 0.8462 Uncertain 12_125436897_A->G 12 125436897 125436897 A G snp 1589.77 1/1 99 57 0 57 1.0 intronic rs4502074 DHX37 AU NM_032656 exon7 c.4596-46A>G 0.65615 0.8462 0.532925 0.6191 0.8294 Uncertain 12_125437019_T->C 12 125437019 125437019 T C snp 4047.77 1/1 99 152 0 152 1.0 exonic rs4429156 DHX37 AU synonymous SNV NM_032656 exon21 c.A2793G p.A931A 0.65615 0.8462 0.538444 0.6397 0.8440 Uncertain 12_125437236_A->G 12 125437236 125437236 A G snp 390.77 1/1 30 12 0 12 1.0 intronic rs6488960 DHX37 AU NM_032656 exon7 c.4769+120A>G 0.65615 0.8462 Uncertain 12_125438336_G->A 12 125438336 125438336 G A snp 427.77 1/1 33 11 0 11 1.0 intronic rs7299198 DHX37 AU NM_032656 exon8 c.6078-89G>A 0.65635 0.8462 Uncertain 12_125438414_A->G 12 125438414 125438414 A G snp 2027.77 1/1 99 71 0 71 1.0 intronic rs12367953 DHX37 AU NM_032656 exon8 c.6078-11A>G 0.65655 0.8472 0.490432 0.6421 0.8410 Uncertain 12_125438516_T->C 12 125438516 125438516 T C snp 3897.77 1/1 99 144 0 144 1.0 exonic rs4516060 DHX37 AU nonsynonymous SNV NM_032656 exon20 c.A2605G p.S869G 0.655751 0.8462 0.536522 0.6358 0.8399 1 T 0.007 P -1.012 T 0.0 T 0.0 T Pathogenic 12_125438523_C->T 12 125438523 125438523 C T snp 4008.77 1/1 99 153 0 153 1.0 exonic rs4258464 DHX37 AU synonymous SNV NM_032656 exon20 c.G2598A p.E866E 0.65635 0.8462 0.534297 0.6338 0.8399 Uncertain 12_125438549_A->G 12 125438549 125438549 A G snp 4158.77 1/1 99 155 0 155 1.0 intronic rs4606565 DHX37 AU NM_032656 exon8 c.6195+7A>G 0.656749 0.8462 0.529068 0.6393 0.8449 Uncertain 12_125441856_G->A 12 125441856 125441856 G A snp 348.78 1/1 27 11 0 11 1.0 intronic rs11057932 DHX37 AU NM_032656 exon11 c.9334+175G>A 0.586861 0.7163 Uncertain 12_125444975_T->C 12 125444975 125444975 T C snp 1835.77 1/1 99 68 0 68 1.0 splicing rs4765007 DHX37 AU NM_032656 exon12 c.12622+6T>C 0.566494 0.7639 0.497770 0.4912 0.7722 Pathogenic 12_125445096_C->G 12 125445096 125445096 C G snp 613.77 1/1 45 20 0 20 1.0 intronic rs4765008 DHX37 AU NM_032656 exon12 c.12622+127C>G 0.408746 0.6181 Uncertain 12_125448960_C->T 12 125448960 125448960 C T snp 3790.77 1/1 99 116 0 116 1.0 exonic rs4076777 DHX37 AU synonymous SNV NM_032656 exon15 c.G2025A p.T675T 0.365216 0.6448 0.290174 0.3551 0.6390 0 D 1.000 P -0.969 T Likely benign 12_125451162_G->A 12 125451162 125451162 G A snp 401.77 1/1 30 14 0 14 1.0 intronic rs61942952 DHX37 AU NM_032656 exon16 c.18991-176G>A 0.242612 0.496 Uncertain 12_125451277_T->C 12 125451277 125451277 T C snp 2182.77 1/1 99 72 0 72 1.0 intronic rs56213993 DHX37 AU NM_032656 exon16 c.18991-61T>C 0.442692 0.5675 Uncertain 12_125451487_C->T 12 125451487 125451487 C T snp 1450.77 1/1 99 51 0 51 1.0 intronic rs35364982 DHX37 AU NM_032656 exon16 c.19077+63C>T 0.272364 0.4911 Uncertain 12_125451532_G->C 12 125451532 125451532 G C snp 721.77 1/1 54 20 0 20 1.0 intronic rs35177301 DHX37 AU NM_032656 exon16 c.19077+108G>C 0.276358 0.4911 Uncertain 12_125451561_T->C 12 125451561 125451561 T C snp 594.77 1/1 45 16 0 16 1.0 intronic rs17879868 DHX37 AU NM_032656 exon17 c.19321-107T>C 0.27476 0.4881 Uncertain 12_125451589_A->G 12 125451589 125451589 A G snp 893.77 1/1 66 22 0 22 1.0 intronic rs35874447 DHX37 AU NM_032656 exon17 c.19321-79A>G 0.276957 0.4931 Uncertain 12_125452895_T->C 12 125452895 125452895 T C snp 41.74 1/1 6 2 0 2 1.0 intronic rs10846793 DHX37 AU NM_032656 exon18 c.20732-184T>C 0.727037 0.8403 Uncertain 12_125453232_A->G 12 125453232 125453232 A G snp 4116.77 1/1 99 147 0 147 1.0 intronic rs10773130 DHX37 AU NM_032656 exon18 c.20847+38A>G 0.946685 0.9444 0.948408 0.9335 0.9422 Uncertain 12_125453235_C->A 12 125453235 125453235 C A snp 3919.77 1/1 99 140 0 140 1.0 intronic rs11057940 DHX37 AU NM_032656 exon18 c.20847+41C>A 0.727436 0.8393 0.676380 0.6815 0.8408 Uncertain 12_125456004_C->A 12 125456004 125456004 C A snp 1298.77 1/1 93 48 0 48 1.0 intronic rs4542508 DHX37 AU NM_032656 exon20 c.23614+43C>A 0.722644 0.8403 0.668436 0.6882 0.8434 Uncertain 12_125456911_A->G 12 125456911 125456911 A G snp 660.77 1/1 51 17 0 17 1.0 intronic rs6488966 DHX37 AU NM_032656 exon21 c.24701-137A>G 0.928115 0.9454 Uncertain 12_125465023_C->T 12 125465023 125465023 C T snp 919.77 1/1 66 33 0 33 1.0 intronic rs4072887 DHX37 AU NM_032656 exon24 c.32688-12C>T 0.407348 0.4256 0.390599 0.3589 0.4854 Uncertain 12_125467158_C->T 12 125467158 125467158 C T snp 2454.77 1/1 99 91 0 91 1.0 exonic rs11558556 DHX37 AU nonsynonymous SNV NM_032656 exon3 c.G288A p.M96I 0.374002 0.4147 0.362525 0.3608 0.4638 0.05 T 0.061 P -0.915 T 0.0 T 0.0 T Pathogenic 12_125467238_G->C 12 125467238 125467238 G C snp 1174.77 1/1 84 41 0 41 1.0 intronic rs12424339 DHX37 AU NM_032656 exon25 c.34822+69G>C 0.397963 0.4206 Uncertain 12_125478656_A->G 12 125478656 125478656 A G snp 310.77 0/1 99 15 5 10 0.67 intronic rs117548679 BRI3BP AU NM_080626 exon1 c.213+107A>G 0.123003 0.1627 Uncertain 12_125562809_G->A 12 125562809 125562809 G A snp 3635.77 1/1 99 133 0 133 1.0 intronic rs7303092 AACS AU NM_023928 exon3 c.11027+1652G>A 0.985823 1 0.9994 1 Uncertain 12_125562966_T->G 12 125562966 125562966 T G snp 218.84 1/1 18 6 0 6 1.0 intronic rs4765025 AACS AU NM_023928 exon3 c.11027+1809T>G 0.800919 0.7907 0.8228 0.8868 Uncertain 12_125587706_T->C 12 125587706 125587706 T C snp 365.77 1/1 30 10 0 10 1.0 intronic rs7138557 AACS AU NM_023928 exon7 c.37497+79T>C 0.388179 0.5645 Uncertain 12_125591844_C->T 12 125591844 125591844 C T snp 2459.77 1/1 99 89 0 89 1.0 intronic rs2297478 AACS AU NM_023928 exon8 c.41684+30C>T 0.363618 0.5813 0.284177 0.3257 0.5432 Uncertain 12_125612839_G->A 12 125612839 125612839 G A snp 451.77 1/1 36 12 0 12 1.0 intronic rs900411 AACS AU NM_023928 exon13 c.62690+19G>A 0.342851 0.5724 0.272490 0.3289 0.5374 Uncertain 12_125619308_C->T 12 125619308 125619308 C T snp 3670.77 1/1 99 146 0 146 1.0 intronic rs2291248 AACS AU NM_023928 exon16 c.69209-31C>T 0.482628 0.6736 0.410810 0.4280 0.6593 Uncertain 12_125621419_A->G 12 125621419 125621419 A G snp 3525.77 1/1 99 133 0 133 1.0 intronic rs41473449 AACS AU NM_023928 exon17 c.71280+9A>G 0.371805 0.5605 0.310520 0.3574 0.5556 Uncertain 12_125626535_A->G 12 125626535 125626535 A G snp 170.9 1/1 15 5 0 5 1.0 intronic rs3751181 AACS AU NM_023928 exon18 c.76507-102A>G 0.481829 0.6696 Uncertain 12_125810958_T->C 12 125810958 125810958 T C snp 83.78 0/1 24 4 1 3 0.75 upstream rs551601 TMEM132B AU 0.763179 0.8294 Uncertain 12_125811056_A->G 12 125811056 125811056 A G snp 714.77 0/1 99 52 26 26 0.5 upstream rs550677 TMEM132B AU 0.77516 0.8294 Uncertain 12_125833964_C->T 12 125833964 125833964 C T snp 473.77 0/1 99 38 21 17 0.45 intronic rs7971264 TMEM132B AU NM_052907 exon2 c.22828-33C>T 0.271765 0.2728 0.262241 0.2988 0.2499 Uncertain 12_125834095_C->A 12 125834095 125834095 C A snp 1635.77 0/1 99 138 73 65 0.47 exonic rs1491893 TMEM132B AU synonymous SNV NM_052907 exon2 c.C150A p.S50S 0.274361 0.2728 0.265517 0.2979 0.2493 Uncertain 12_125834395_T->C 12 125834395 125834395 T C snp 7522.77 1/1 99 250 2 248 0.99 exonic rs3803155 TMEM132B AU synonymous SNV NM_052907 exon2 c.T450C p.S150S 0.661142 0.8105 0.648670 0.7481 0.8199 Uncertain 12_125900095_T->A 12 125900095 125900095 T A snp 1292.77 0/1 99 114 60 54 0.47 exonic rs3809261 TMEM132B AU synonymous SNV NM_052907 exon3 c.T963A p.G321G 0.100639 0.1419 0.075507 0.0891 0.1465 Uncertain 12_126003890_G->A 12 126003890 126003890 G A snp 1811.77 1/1 99 53 0 53 1.0 intronic rs964997 TMEM132B AU NM_052907 exon4 c.192815-94G>A 0.420927 0.749 Uncertain 12_126003934_T->C 12 126003934 126003934 T C snp 3378.77 1/1 99 117 0 117 1.0 intronic rs964998 TMEM132B AU NM_052907 exon4 c.192815-50T>C 0.83107 0.9444 0.758547 0.7681 0.9377 Uncertain 12_126068417_T->C 12 126068417 126068417 T C snp 1969.77 1/1 99 55 0 55 1.0 exonic rs6489006 TMEM132B AU synonymous SNV NM_052907 exon5 c.T1299C p.T433T 0.921725 0.9563 0.938582 0.9258 0.9575 Uncertain 12_126128871_T->C 12 126128871 126128871 T C snp 155.77 0/1 99 12 5 7 0.58 intronic rs12305906 TMEM132B AU NM_052907 exon6 c.317658+44T>C 0.563898 0.37 0.550789 0.5138 0.3314 Uncertain 12_126135195_A->G 12 126135195 126135195 A G snp 937.77 0/1 99 84 50 34 0.4 intronic rs3803152 TMEM132B AU NM_052907 exon7 c.324059-33A>G 0.55611 0.3681 0.556308 0.5042 0.3226 Uncertain 12_126136863_C->T 12 126136863 126136863 C T snp 37.77 0/1 66 6 4 2 0.33 intronic rs3825381 TMEM132B AU NM_052907 exon8 c.325817-123C>T 0.340056 0.2778 Uncertain 12_126137060_C->T 12 126137060 126137060 C T snp 506.77 0/1 99 53 24 29 0.55 exonic rs61021440 TMEM132B AU nonsynonymous SNV NM_001286219 exon4 c.C509T p.A170V 0.342452 0.2768 0.2654 0.2251 0.16 T 0.026 P -0.968 T 0.002 T 0.002 T Pathogenic 12_126932380_G->C 12 126932380 126932380 G C snp 96.28 1/1 9 3 0 3 1.0 ncRNA_intronic rs2347026 LOC100128554 AU 0.602037 0.7024 Uncertain 12_126932624_G->A 12 126932624 126932624 G A snp 1601.77 1/1 99 64 0 64 1.0 ncRNA_intronic rs758564 LOC100128554 AU 0.540935 0.7034 Uncertain 12_126932764_C->G 12 126932764 126932764 C G snp 325.78 1/1 27 11 0 11 1.0 ncRNA_intronic rs758565 LOC100128554 AU 0.678714 0.7232 Uncertain 12_126947430_G->T 12 126947430 126947430 G T snp 835.77 1/1 60 32 0 32 1.0 ncRNA_intronic rs1019149 LOC100128554 AU 0.614816 0.881 Uncertain 12_127229254_A->G 12 127229254 127229254 A G snp 1212.77 1/1 90 35 0 35 1.0 ncRNA_intronic rs10847207 LINC00943 AU 0.544728 0.8591 Uncertain 12_127229506_T->C 12 127229506 127229506 T C snp 7516.77 1/1 99 250 0 250 1.0 ncRNA_intronic rs10847208 LINC00943 AU 0.615815 0.8611 Uncertain 12_128108780_T->C 12 128108780 128108780 T C snp 1026.77 1/1 75 47 0 47 1.0 intergenic rs3803151 LOC101927616 AU 0.966254 1 Uncertain 12_128108934_G->A 12 128108934 128108934 G A snp 168.77 0/1 99 17 9 8 0.47 intergenic rs10847418 LOC101927616 AU 0.18151 0.2907 Uncertain 12_128778470_C->T 12 128778470 128778470 C T snp 371.77 0/1 99 40 27 13 0.33 intronic rs1709695 TMEM132C AU NM_001136103 exon1 c.85+26438C>T 0.333866 0.4812 Uncertain 12_128778532_G->A 12 128778532 128778532 G A snp 1086.77 0/1 99 104 57 47 0.45 intronic rs1683710 TMEM132C AU NM_001136103 exon1 c.85+26500G>A 0.333666 0.4851 Uncertain 12_128778575_G->T 12 128778575 128778575 G T snp 1454.77 0/1 99 143 77 66 0.46 intronic rs1709696 TMEM132C AU NM_001136103 exon1 c.85+26543G>T 0.332468 0.4802 Uncertain 12_128778703_G->A 12 128778703 128778703 G A snp 1335.77 0/1 99 116 58 58 0.5 ncRNA_exonic rs1683709 MIR3612 AU 0.332867 0.4812 0.2732 0.4545 Uncertain 12_128899673_A->G 12 128899673 128899673 A G snp 1594.77 0/1 99 144 76 68 0.47 exonic rs11059681 TMEM132C AU nonsynonymous SNV NM_001136103 exon2 c.A482G p.H161R 0.377396 0.3998 0.452694 0.4861 0.4633 0.46 T 0.0 P -0.919 T 0.0 T 0.001 T Pathogenic 12_128900005_G->A 12 128900005 128900005 G A snp 2814.77 0/1 99 250 138 112 0.45 exonic rs1683723 TMEM132C AU nonsynonymous SNV NM_001136103 exon2 c.G814A p.V272I 0.510383 0.5992 0.413710 0.5689 0.6433 0.5 T 0.000 P -1.054 T 0.375 T 0.053 T Pathogenic 12_129028401_G->C 12 129028401 129028401 G C snp 684.77 0/1 99 57 32 25 0.44 intronic rs61938604 TMEM132C AU NM_001136103 exon3 c.276554-100G>C 0.172724 0.2421 Uncertain 12_129100970_A->G 12 129100970 129100970 A G snp 461.77 1/1 36 12 0 12 1.0 intronic rs1552580 TMEM132C AU NM_001136103 exon4 c.348933+90A>G 0.574481 0.5774 Uncertain 12_129153986_G->A 12 129153986 129153986 G A snp 1481.77 0/1 99 144 77 67 0.47 exonic rs4272850 TMEM132C AU nonsynonymous SNV NM_001136103 exon5 c.G1330A p.V444I 0.341853 0.248 0.304643 0.3192 0.2508 1 T 0.000 P -0.913 T 0.001 T 0.003 T Pathogenic 12_129181625_A->G 12 129181625 129181625 A G snp 179.9 1/1 15 6 0 6 1.0 intronic rs902058 TMEM132C AU NM_001136103 exon8 c.429821-143A>G 0.937899 1 Uncertain 12_129181701_A->G 12 129181701 129181701 A G snp 1004.77 1/1 72 35 0 35 1.0 intronic rs902059 TMEM132C AU NM_001136103 exon8 c.429821-67A>G 0.961462 1 Uncertain 12_129181810_A->G 12 129181810 129181810 A G snp 2123.77 1/1 99 76 0 76 1.0 exonic rs885546 TMEM132C AU synonymous SNV NM_001136103 exon8 c.A1971G p.T657T 0.796725 0.8472 0.852825 0.8958 0.8754 Uncertain 12_129181834_A->G 12 129181834 129181834 A G snp 2036.77 1/1 99 75 0 75 1.0 exonic rs902060 TMEM132C AU synonymous SNV NM_001136103 exon8 c.A1995G p.V665V 0.984824 1 0.990583 0.9966 1 Uncertain 12_129189556_T->C 12 129189556 129189556 T C snp 221.77 0/1 99 19 10 9 0.47 intronic rs902061 TMEM132C AU NM_001136103 exon9 c.437687-78T>C 0.495208 0.6111 Uncertain 12_129189591_A->G 12 129189591 129189591 A G snp 1106.77 1/1 81 38 0 38 1.0 intronic rs4533104 TMEM132C AU NM_001136103 exon9 c.437687-43A>G 0.921126 0.8829 0.966053 0.9557 0.888 Uncertain 12_129189941_G->A 12 129189941 129189941 G A snp 2834.77 0/1 99 249 135 114 0.46 exonic rs12424159 TMEM132C AU nonsynonymous SNV NM_001136103 exon9 c.G2428A p.G810R 0.488219 0.6042 0.468244 0.5527 0.5889 0.53 T 0.0 P -0.943 T 0.011 T 0.006 T Pathogenic 12_129190021_A->G 12 129190021 129190021 A G snp 6367.77 1/1 99 217 0 217 1.0 exonic rs11059841 TMEM132C AU synonymous SNV NM_001136103 exon9 c.A2508G p.Q836Q 0.978834 1 0.978537 0.9930 1 Uncertain 12_129190474_G->A 12 129190474 129190474 G A snp 3306.77 0/1 99 249 118 131 0.53 exonic rs3812792 TMEM132C AU synonymous SNV NM_001136103 exon9 c.G2961A p.A987A 0.485823 0.5744 0.469996 0.5599 0.5424 Uncertain 12_129190913_G->A 12 129190913 129190913 G A snp 102.77 0/1 99 15 10 5 0.33 UTR3 rs7980709 TMEM132C AU 0.0672923 Uncertain 12_129278864_A->G 12 129278864 129278864 A G snp 2364.77 1/1 99 95 1 94 0.99 exonic rs1059312 SLC15A4 AU synonymous SNV NM_145648 exon8 c.T1611C p.F537F 0.465455 0.4266 0.413501 0.4342 0.4406 Uncertain 12_129294244_A->T 12 129294244 129294244 A T snp 96.28 1/1 9 3 0 3 1.0 intronic rs11059926 SLC15A4 AU NM_145648 exon5 c.15278+226A>T 0.13099 0.1915 Uncertain 12_129298564_G->C 12 129298564 129298564 G C snp 626.77 0/1 99 62 36 26 0.42 intronic rs73149855 SLC15A4 AU NM_145648 exon7 c.20579-755G>C 0.277756 0.2282 Uncertain 12_129298735_C->G 12 129298735 129298735 C G snp 1682.77 0/1 99 132 65 67 0.51 intronic rs3741613 SLC15A4 AU NM_145648 exon7 c.20579-584C>G Uncertain 12_129298779_C->T 12 129298779 129298779 C T snp 677.77 0/1 99 161 121 40 0.25 intronic rs111379578 SLC15A4 AU NM_145648 exon7 c.20579-540C>T Uncertain 12_129298799_T->C 12 129298799 129298799 T C snp 1986.77 0/1 99 167 77 90 0.54 intronic rs61946216 SLC15A4 AU NM_145648 exon7 c.20579-520T>C Uncertain 12_129298848_G->A 12 129298848 129298848 G A snp 1786.77 0/1 99 163 80 83 0.51 intronic rs3741615 SLC15A4 AU NM_145648 exon7 c.20579-471G>A 0.13099 0.1905 Uncertain 12_129299385_G->A 12 129299385 129299385 G A snp 991.77 0/1 99 85 44 41 0.48 exonic rs10847697 SLC15A4 AU synonymous SNV NM_145648 exon2 c.C777T p.D259D 0.13099 0.1905 0.077887 0.1229 0.1911 ID=CM0911355;DIS=Systemic lupus erythematosus, association with;TAG=DP;PUB=19838193 DP Uncertain 12_129348770_G->A 12 129348770 129348770 G A snp 1197.77 0/1 99 87 34 53 0.61 intronic rs10847707 GLT1D1 AU NM_144669 exon1 c.68+10576G>A 0.058107 0.0853 0.0238 0.0932 Uncertain 12_129348798_-->T 12 129348798 129348798 - T indel 1314.73 0/1 99 68 30 38 0.56 intronic rs398098601 GLT1D1 AU NM_144669 exon1 c.68+10604insT 0.179712 0.1706 Uncertain 12_129360498_G->A 12 129360498 129360498 G A snp 1147.77 0/1 99 128 76 52 0.41 exonic rs482401 GLT1D1 AU synonymous SNV NM_144669 exon2 c.G108A p.K36K 0.340256 0.2361 0.278333 0.2623 0.2358 Uncertain 12_129373073_A->C 12 129373073 129373073 A C snp 532.77 0/1 99 30 11 19 0.63 intronic rs7300146 GLT1D1 AU NM_144669 exon3 c.35057-110A>C 0.177915 0.1419 Uncertain 12_129373100_G->A 12 129373100 129373100 G A snp 1185.77 0/1 99 61 19 42 0.69 intronic rs12309809 GLT1D1 AU NM_144669 exon3 c.35057-83G>A 0.148363 0.1419 Uncertain 12_129384094_T->G 12 129384094 129384094 T G snp 135.03 1/1 12 4 0 4 1.0 intronic rs582456 GLT1D1 AU NM_144669 exon4 c.45706+262T>G Uncertain 12_129410739_AAT->- 12 129410739 129410741 AAT - indel 454.74 1/1 30 10 0 10 1.0 intronic rs141839609 GLT1D1 AU NM_144669 exon5 c.91744-19131_91744-19129delAAT 0.603634 0.6528 Uncertain 12_129410789_G->A 12 129410789 129410789 G A snp 547.77 0/1 99 45 21 24 0.53 intronic rs12425716 GLT1D1 AU NM_144669 exon5 c.91744-19081G>A 0.163938 0.0883 Uncertain 12_129430128_T->C 12 129430128 129430128 T C snp 222.84 1/1 18 6 0 6 1.0 intronic rs617042 GLT1D1 AU NM_144669 exon5 c.91788+214T>C 0.989018 1 Uncertain 12_129431952_C->T 12 129431952 129431952 C T snp 714.77 0/1 99 64 34 30 0.47 exonic rs12581064 GLT1D1 AU synonymous SNV NM_144669 exon6 c.C489T p.F163F 0.0177716 0.0833 0.000308 0.0075 0.0879 ID=COSM296097,COSM3721936;OCCURENCE=1(large_intestine),1(upper_aerodigestive_tract) Uncertain 12_129441980_G->A 12 129441980 129441980 G A snp 113.77 0/1 99 10 5 5 0.5 intronic rs67694451 GLT1D1 AU NM_144669 exon7 c.103963-109G>A 0.08127 0.1349 Uncertain 12_129559557_C->T 12 129559557 129559557 C T snp 2587.77 1/1 99 88 0 88 1.0 exonic rs10773594 TMEM132D AU synonymous SNV NM_133448 exon9 c.G2163A p.T721T 0.644169 0.5645 0.676303 0.6687 0.5795 Uncertain 12_129566270_A->C 12 129566270 129566270 A C snp 519.77 0/1 99 47 27 20 0.43 intronic rs12578725 TMEM132D AU NM_133448 exon3 c.7884-33A>C 0.105232 0.1806 0.076442 0.0984 0.1665 Uncertain 12_129566285_T->- 12 129566285 129566285 T - indel 350.73 0/1 99 58 32 26 0.45 intronic rs34663182 TMEM132D AU NM_133448 exon3 c.7884-18delT 0.434904 0.4395 0.3785 0.3873 Uncertain 12_129566406_C->T 12 129566406 129566406 C T snp 2170.77 0/1 99 226 124 102 0.45 exonic rs79031518 TMEM132D AU synonymous SNV NM_133448 exon7 c.G1821A p.T607T 0.101238 0.1815 0.077733 0.0968 0.1660 Uncertain 12_129568960_T->A 12 129568960 129568960 T A snp 846.77 1/1 63 23 0 23 1.0 intronic rs10847755 TMEM132D AU NM_133448 exon4 c.10622-81T>A 0.42492 0.5615 Uncertain 12_129694253_G->A 12 129694253 129694253 G A snp 677.77 0/1 99 45 21 24 0.53 ncRNA_exonic rs74569482 LOC101927735 AU 0.0265575 0.0923 0.000769 0.0131 0.1265 Uncertain 12_129821992_A->G 12 129821992 129821992 A G snp 44.74 1/1 6 2 0 2 1.0 intronic TMEM132D AU NM_133448 exon6 c.263759-186A>G Uncertain 12_130015535_-->AAAA 12 130015535 130015535 - AAAA indel 519.73 0/1 99 62 36 26 0.42 intronic TMEM132D AU NM_133448 exon7 c.457184-68insAAAA Uncertain 12_130185054_A->T 12 130185054 130185054 A T snp 1083.77 0/1 99 97 53 44 0.45 exonic rs78136296 TMEM132D AU nonsynonymous SNV NM_133448 exon2 c.T269A p.L90Q 0.0183706 0.0853 0.000231 0.0069 0.0884 1 N -0.967 T 0.925 T 0.568 D Pathogenic 12_130521306_G->C 12 130521306 130521306 G C snp 910.77 0/1 99 65 27 38 0.58 ncRNA_exonic rs600949 LOC100190940 AU 0.588059 0.627 Uncertain 12_130647709_G->C 12 130647709 130647709 G C snp 3255.77 0/1 99 250 133 117 0.47 exonic rs10848026 FZD10 AU synonymous SNV NM_007197 exon1 c.G222C p.L74L 0.320088 0.4722 0.229497 0.2324 0.4569 0 D 1.0 P -0.922 T Likely benign 12_130827271_G->C 12 130827271 130827271 G C snp 399.77 0/1 99 49 30 19 0.39 intronic rs11060834 PIWIL1 AU NM_004764 exon2 c.78+57G>C 0.182109 0.0853 0.189882 Uncertain 12_130830906_C->T 12 130830906 130830906 C T snp 662.77 0/1 99 77 45 32 0.42 intronic rs11060836 PIWIL1 AU NM_004764 exon5 c.3778-8C>T 0.181909 0.0833 0.180917 0.1647 0.0866 Uncertain 12_130832492_G->A 12 130832492 130832492 G A snp 742.77 0/1 99 51 21 30 0.59 intronic rs55887533 PIWIL1 AU NM_004764 exon7 c.5511-155G>A 0.181709 0.0833 Uncertain 12_130832597_T->C 12 130832597 130832597 T C snp 1560.77 0/1 99 112 49 63 0.56 intronic rs55881231 PIWIL1 AU NM_004764 exon7 c.5511-50T>C 0.181709 0.0833 0.182972 0.1597 0.0833 Uncertain 12_130834602_G->A 12 130834602 130834602 G A snp 155.77 0/1 99 9 4 5 0.56 intronic rs3736333 PIWIL1 AU NM_004764 exon9 c.7376+90G>A 0.109824 0.0833 Uncertain 12_130839165_G->A 12 130839165 130839165 G A snp 2110.77 0/1 99 159 75 84 0.53 exonic rs10848087 PIWIL1 AU synonymous SNV NM_001190971 exon10 c.G1128A p.L376L 0.185304 0.1012 0.202368 0.1778 0.1069 Uncertain 12_130839645_A->C 12 130839645 130839645 A C snp 417.77 0/1 99 37 21 16 0.43 intronic rs1874521 PIWIL1 AU NM_004764 exon11 c.12414+95A>C 0.489816 0.377 Uncertain 12_130847389_A->G 12 130847389 130847389 A G snp 1829.77 0/1 99 154 78 76 0.49 intronic rs2242363 PIWIL1 AU NM_004764 exon17 c.20245+8A>G 0.643371 0.378 0.737352 0.6520 0.3648 Uncertain 12_130856316_C->T 12 130856316 130856316 C T snp 264.8 1/1 21 7 0 7 1.0 UTR3 rs10773771 PIWIL1 AU 0.499401 0.6498 Uncertain 12_130898935_T->C 12 130898935 130898935 T C snp 1050.77 0/1 99 99 53 46 0.46 intronic rs2277359 RIMBP2 AU NM_015347 exon6 c.15172+84T>C 0.0427316 0.2083 Uncertain 12_130899033_C->A 12 130899033 130899033 C A snp 129.03 1/1 12 4 0 4 1.0 intronic rs10773780 RIMBP2 AU NM_015347 exon6 c.15172+182C>A 0.585264 0.7054 Uncertain 12_130912757_C->T 12 130912757 130912757 C T snp 3467.77 1/1 99 121 0 121 1.0 exonic rs2277356 RIMBP2 AU synonymous SNV NM_015347 exon12 c.G2328A p.R776R 0.288738 0.4077 0.157927 0.2179 0.4268 Uncertain 12_130922870_G->A 12 130922870 130922870 G A snp 200.77 0/1 99 103 86 17 0.17 intronic rs2292665 RIMBP2 AU NM_015347 exon11 c.39230-39G>A 0.158546 0.2093 0.105988 0.0962 0.1322 Uncertain 12_130922884_T->C 12 130922884 130922884 T C snp 151.77 0/1 99 77 53 24 0.31 intronic rs201205931 RIMBP2 AU NM_015347 exon11 c.39230-25T>C 0.033746 0.0635 0.0161 0.0261 Uncertain 12_130923089_C->G 12 130923089 130923089 C G snp 370.77 0/1 99 35 20 15 0.43 intronic rs2292666 RIMBP2 AU NM_015347 exon11 c.39382+28C>G 0.206869 0.2252 0.156048 0.2066 0.2537 Uncertain 12_130929546_C->G 12 130929546 130929546 C G snp 516.77 1/1 39 14 0 14 1.0 intronic rs10848102 RIMBP2 AU NM_015347 exon13 c.46025-158C>G 0.628794 0.7351 Uncertain 12_130929599_A->G 12 130929599 130929599 A G snp 1767.77 1/1 99 56 0 56 1.0 intronic rs7952756 RIMBP2 AU NM_015347 exon13 c.46025-105A>G 0.609625 0.7103 Uncertain 12_130935710_C->G 12 130935710 130935710 C G snp 3586.77 1/1 99 122 0 122 1.0 intronic rs2398519 RIMBP2 AU NM_015347 exon15 c.52060-29C>G 0.995008 1 0.993142 0.9980 1 Uncertain 12_130935796_C->G 12 130935796 130935796 C G snp 2429.77 0/1 99 247 132 115 0.47 exonic rs142989103 RIMBP2 AU nonsynonymous SNV NM_015347 exon5 c.G397C p.A133P 0.0165735 0.0556 0.000077 0.0087 0.0718 0.11 T 1.000 N -1.089 T 0.709 T 0.46 P Pathogenic 12_130940960_T->C 12 130940960 130940960 T C snp 48.74 1/1 6 2 0 2 1.0 intronic rs2277360 RIMBP2 AU NM_015347 exon16 c.57361-80T>C 0.398163 0.3472 Uncertain 12_130941150_G->C 12 130941150 130941150 G C snp 5226.77 1/1 99 188 0 188 1.0 exonic rs2277361 RIMBP2 AU synonymous SNV NM_015347 exon4 c.C198G p.G66G 0.370008 0.377 0.435184 0.4248 0.3875 Uncertain 12_130941338_G->A 12 130941338 130941338 G A snp 3722.77 1/1 99 114 0 114 1.0 intronic rs1356081 RIMBP2 AU NM_015347 exon16 c.57566+93G>A 0.368011 0.3472 Uncertain 12_131276448_G->T 12 131276448 131276448 G T snp 3303.77 1/1 99 125 0 125 1.0 exonic rs4759786 STX2 AU synonymous SNV NM_001980 exon10 c.C861A p.S287S 0.976637 1 0.975012 0.9933 1 Uncertain 12_131280417_T->C 12 131280417 131280417 T C snp 288.78 1/1 24 8 0 8 1.0 intronic rs1554807 STX2 AU NM_001980 exon2 c.6625-2652T>C 0.609225 0.871 Uncertain 12_131280714_T->C 12 131280714 131280714 T C snp 4189.77 1/1 99 134 0 134 1.0 intronic rs10848205 STX2 AU NM_194356 exon2 c.81+49T>C 0.539936 0.869 0.424189 0.5713 0.8838 Uncertain 12_131280805_G->C 12 131280805 131280805 G C snp 174.9 1/1 15 5 0 5 1.0 intronic rs10773820 STX2 AU NM_194356 exon2 c.81+140G>C 0.608626 0.871 Uncertain 12_131280810_G->A 12 131280810 131280810 G A snp 84.28 1/1 9 3 0 3 1.0 intronic rs10773821 STX2 AU NM_194356 exon2 c.81+145G>A 0.608626 0.871 Uncertain 12_131285663_T->C 12 131285663 131285663 T C snp 2557.77 1/1 99 95 0 95 1.0 intronic rs1881060 STX2 AU NM_001980 exon3 c.9253-34T>C 0.983427 1 0.981470 0.9951 1 Uncertain 12_131291803_A->G 12 131291803 131291803 A G snp 141.03 1/1 12 4 0 4 1.0 intronic rs7136112 STX2 AU NM_001980 exon5 c.15191+168A>G 0.983027 1 Uncertain 12_131292977_C->T 12 131292977 131292977 C T snp 54.74 1/1 6 2 0 2 1.0 intronic rs6486600 STX2 AU NM_001980 exon6 c.16731-198C>T 0.671326 0.8859 Uncertain 12_131296908_C->G 12 131296908 131296908 C G snp 1445.77 1/1 99 55 0 55 1.0 intronic rs9668291 STX2 AU NM_001980 exon7 c.21057-593C>G 0.614217 0.871 0.6948 0.8478 Uncertain 12_131297348_T->G 12 131297348 131297348 T G snp 56.74 1/1 6 2 0 2 1.0 intronic rs4759794 STX2 AU NM_001980 exon7 c.21057-153T>G 0.613818 0.871 Uncertain 12_131306314_C->G 12 131306314 131306314 C G snp 3063.77 1/1 99 109 0 109 1.0 exonic rs17564 STX2 AU nonsynonymous SNV NM_001980 exon3 c.G125C p.S42T 0.604034 0.872 0.528064 0.6484 0.8844 0.54 T 0.0 P -1.035 T 0.389 T 0.232 T Pathogenic 12_131311629_G->A 12 131311629 131311629 G A snp 198.84 1/1 18 6 0 6 1.0 intronic rs112850087 STX2 AU NM_001980 exon9 c.35293-108G>A 0.604433 0.872 Uncertain 12_131323708_T->G 12 131323708 131323708 T G snp 366.78 1/1 27 15 0 15 1.0 UTR5 rs10848214 STX2 AU 0.982628 1 Uncertain 12_131453378_T->C 12 131453378 131453378 T C snp 1317.77 1/1 96 38 0 38 1.0 intronic rs7309920 ADGRD1 AU NM_198827 exon3 c.12081+2287T>C 0.856829 0.9931 Uncertain 12_131456238_G->A 12 131456238 131456238 G A snp 56.74 1/1 6 2 0 2 1.0 intronic rs4759532 ADGRD1 AU NM_198827 exon4 c.17115+113G>A 0.764177 0.9395 Uncertain 12_131466562_T->C 12 131466562 131466562 T C snp 1720.77 1/1 99 59 0 59 1.0 exonic rs4759534 ADGRD1 AU synonymous SNV NM_198827 exon5 c.T444C p.Y148Y 0.930112 0.995 0.922805 0.9746 0.9970 Uncertain 12_131471608_T->C 12 131471608 131471608 T C snp 2481.77 1/1 99 87 0 87 1.0 intronic rs1547577 ADGRD1 AU NM_198827 exon6 c.32629-31T>C 0.926717 0.995 0.918960 0.9734 0.9966 Uncertain 12_131471956_G->A 12 131471956 131471956 G A snp 514.77 1/1 39 15 0 15 1.0 intronic rs2398544 ADGRD1 AU NM_198827 exon6 c.32884+62G>A 0.926518 0.995 Uncertain 12_131488566_C->T 12 131488566 131488566 C T snp 99.28 1/1 9 3 0 3 1.0 intronic rs10773836 ADGRD1 AU NM_198827 exon11 c.49720-164C>T 0.667532 0.8115 Uncertain 12_131498946_C->T 12 131498946 131498946 C T snp 1339.77 1/1 96 48 0 48 1.0 intronic rs1212936 ADGRD1 AU NM_198827 exon13 c.59875+61C>T 0.692492 0.8403 Uncertain 12_131498995_G->A 12 131498995 131498995 G A snp 652.77 1/1 48 24 0 24 1.0 intronic rs1195923 ADGRD1 AU NM_198827 exon13 c.59875+110G>A 0.496206 0.7788 Uncertain 12_131555329_C->A 12 131555329 131555329 C A snp 2088.77 1/1 99 78 0 78 1.0 intronic rs10744491 ADGRD1 AU NM_198827 exon14 c.122335-6016C>A 0.881789 0.995 Uncertain 12_131555635_G->A 12 131555635 131555635 G A snp 136.03 1/1 12 6 0 6 1.0 intronic rs12829830 ADGRD1 AU NM_198827 exon14 c.122335-5710G>A Uncertain 12_131555645_A->G 12 131555645 131555645 A G snp 138.03 1/1 12 6 0 6 1.0 intronic rs12832004 ADGRD1 AU NM_198827 exon14 c.122335-5700A>G Uncertain 12_131555651_-->G 12 131555651 131555651 - G indel 165.87 1/1 15 5 0 5 1.0 intronic rs397770020 ADGRD1 AU NM_198827 exon14 c.122335-5694insG Uncertain 12_131555664_T->C 12 131555664 131555664 T C snp 134.03 1/1 12 6 0 6 1.0 intronic rs11610601 ADGRD1 AU NM_198827 exon14 c.122335-5681T>C Uncertain 12_131561134_T->C 12 131561134 131561134 T C snp 96.28 1/1 9 3 0 3 1.0 intronic rs1526827 ADGRD1 AU NM_198827 exon14 c.122335-211T>C 0.546326 0.6935 Uncertain 12_131590404_G->A 12 131590404 131590404 G A snp 1783.77 0/1 99 146 71 75 0.51 exonic rs4759544 ADGRD1 AU synonymous SNV NM_198827 exon17 c.G1881A p.P627P 0.205671 0.1935 0.216515 0.2906 0.2195 Uncertain 12_131593506_G->A 12 131593506 131593506 G A snp 184.77 0/1 99 10 4 6 0.6 intronic rs11061329 ADGRD1 AU NM_198827 exon18 c.154412+84G>A 0.207268 0.1954 Uncertain 12_131602811_C->T 12 131602811 131602811 C T snp 594.77 0/1 99 38 17 21 0.55 intronic rs7961434 ADGRD1 AU NM_198827 exon19 c.163919-118C>T 0.373602 0.7371 Uncertain 12_131616141_T->C 12 131616141 131616141 T C snp 339.78 1/1 27 10 0 10 1.0 intronic rs1195939 ADGRD1 AU NM_198827 exon21 c.177259-128T>C 0.942692 0.9831 Uncertain 12_131622506_T->C 12 131622506 131622506 T C snp 337.78 1/1 27 9 0 9 1.0 intronic rs884943 ADGRD1 AU NM_198827 exon24 c.183671-175T>C 0.625799 0.8919 Uncertain 12_131622735_T->C 12 131622735 131622735 T C snp 5955.77 1/1 99 216 1 215 1.0 exonic rs7302341 ADGRD1 AU synonymous SNV NM_198827 exon24 c.T2490C p.S830S 0.663938 0.9306 0.556743 0.6714 0.9228 0.998 P -1.020 T Likely benign 12_131649768_C->T 12 131649768 131649768 C T snp 1164.77 0/1 99 118 67 51 0.43 ncRNA_exonic rs11061358 LINC01257 AU 0.0441294 0.1111 Uncertain 12_131687287_G->C 12 131687287 131687287 G C snp 3847.77 1/1 99 149 0 149 1.0 ncRNA_intronic rs7486559 LINC01257 AU 0.970248 0.999 Uncertain 12_131687289_G->C 12 131687289 131687289 G C snp 1207.77 0/1 99 152 95 57 0.38 ncRNA_intronic rs12816480 LINC01257 AU 0.166334 0.0764 Uncertain 12_131692047_G->A 12 131692047 131692047 G A snp 77.77 0/1 57 5 2 3 0.6 ncRNA_intronic rs55747438 LINC01257 AU 0.161142 0.0734 Uncertain 12_132209933_TG->- 12 132209933 132209934 TG - indel 4232.73 0/1 99 198 91 107 0.54 intronic rs138640311 SFSWAP AU NM_001261411 exon5 c.14175-16_14175-15delTG 0.323283 0.4187 0.368051 0.4050 0.4461 Uncertain 12_132210229_G->A 12 132210229 132210229 G A snp 1077.77 0/1 99 56 19 37 0.66 intronic rs76666990 SFSWAP AU NM_001261411 exon5 c.14401+54G>A 0.0107827 0.0526 Uncertain 12_132237848_T->C 12 132237848 132237848 T C snp 4808.77 1/1 99 169 1 168 0.99 exonic rs1982528 SFSWAP AU nonsynonymous SNV NM_001261411 exon8 c.T1262C p.L421P 0.928914 0.994 0.926419 0.9640 0.9935 0.4 T 0.993 P -0.962 T 0.0 T 0.0 T Pathogenic 12_132238833_C->T 12 132238833 132238833 C T snp 74.77 0/1 99 7 4 3 0.43 intronic rs180807233 SFSWAP AU NM_001261411 exon9 c.43138-79C>T 0.00239617 0.0119 Uncertain 12_132240937_-->AT 12 132240937 132240937 - AT indel 914.73 0/1 99 48 25 23 0.48 intronic rs3072495 SFSWAP AU NM_001261411 exon11 c.45243-80insAT 0.432109 0.5357 Uncertain 12_132241229_A->G 12 132241229 132241229 A G snp 490.77 1/1 36 18 0 18 1.0 intronic rs7136191 SFSWAP AU NM_001261411 exon11 c.45415+40A>G 0.997204 1 0.997924 0.9990 0.9998 Uncertain 12_132269830_-->A 12 132269830 132269830 - A indel 2455.73 0/1 99 202 79 123 0.61 intronic rs397802851 SFSWAP AU NM_001261411 exon15 c.73999+57insA 0.766174 0.4653 Uncertain 12_132271113_T->C 12 132271113 132271113 T C snp 1998.77 1/1 99 73 0 73 1.0 exonic rs7136643 SFSWAP AU synonymous SNV NM_004592 exon15 c.T2514C p.S838S 0.99381 1 0.995067 0.9981 1 Uncertain 12_132313098_-->GCTGCCGCT 12 132313098 132313098 - GCTGCCGCT indel 650.8 1/1 18 6 0 6 1.0 exonic rs559842978 MMP17 AU nonframeshift insertion NM_016155 exon1 c.59_60insGCTGCCGCT p.R20delinsRLPL 0.953874 0.999 0 . Uncertain 12_132323082_A->G 12 132323082 132323082 A G snp 74.77 0/1 99 7 4 3 0.43 intronic rs7971187 MMP17 AU NM_016155 exon3 c.10117-74A>G 0.713658 0.7113 Uncertain 12_132323089_C->G 12 132323089 132323089 C G snp 225.84 1/1 18 7 0 7 1.0 intronic rs7965611 MMP17 AU NM_016155 exon3 c.10117-67C>G 0.999401 1 Uncertain 12_132323294_T->C 12 132323294 132323294 T C snp 232.77 0/1 99 20 8 12 0.6 intronic rs4964884 MMP17 AU NM_016155 exon3 c.10247+8T>C 0.703075 0.7004 0.692093 0.7087 0.7330 Uncertain 12_132324972_T->C 12 132324972 132324972 T C snp 180.77 0/1 99 10 4 6 0.6 intronic rs7484577 MMP17 AU NM_016155 exon4 c.12078-145T>C 0.713259 0.7073 Uncertain 12_132325239_G->A 12 132325239 132325239 G A snp 2946.77 0/1 99 250 141 109 0.44 exonic rs6598163 MMP17 AU nonsynonymous SNV NM_016155 exon4 c.G544A p.A182T 0.453674 0.5238 0.471855 0.4745 0.5188 0.06 T 0.0 P -0.904 T 0.051 T 0.022 T Pathogenic 12_132326051_C->T 12 132326051 132326051 C T snp 399.77 0/1 99 26 12 14 0.54 intronic rs4964929 MMP17 AU NM_016155 exon5 c.13129-117C>T 0.709465 0.6885 Uncertain 12_132329553_A->C 12 132329553 132329553 A C snp 597.77 0/1 99 29 12 17 0.59 intronic rs61942397 MMP17 AU NM_016155 exon7 c.16623-109A>C 0.28754 0.4435 Uncertain 12_132335477_C->G 12 132335477 132335477 C G snp 1195.77 0/1 99 141 90 51 0.36 exonic rs7975920 MMP17 AU synonymous SNV NM_016155 exon10 c.C1470G p.S490S 0.108227 0.2937 0.018530 0.0468 0.2963 Uncertain 12_132395052_G->C 12 132395052 132395052 G C snp 41.77 0/1 70 4 2 2 0.5 intronic rs7295593 ULK1 AU NM_003565 exon11 c.15303+203G>C 0.534545 0.3353 Uncertain 12_132395448_G->A 12 132395448 132395448 G A snp 80.77 0/1 96 7 3 4 0.57 intronic rs552636789 ULK1 AU NM_003565 exon12 c.15799+103G>A 0.00199681 0.0099 Uncertain 12_132396343_C->T 12 132396343 132396343 C T snp 399.77 0/1 99 26 11 15 0.58 intronic rs11615995 ULK1 AU NM_003565 exon13 c.16940-143C>T 0.532947 0.3343 Uncertain 12_132396603_C->T 12 132396603 132396603 C T snp 1654.77 0/1 99 150 82 68 0.45 exonic rs11616018 ULK1 AU synonymous SNV NM_003565 exon13 c.C1065T p.D355D 0.551717 0.3343 0.669514 0.7127 0.3634 Uncertain 12_132399065_T->G 12 132399065 132399065 T G snp 1347.77 0/1 99 121 62 59 0.49 intronic rs12303764 ULK1 AU NM_003565 exon16 c.19476+43T>G 0.201677 0.2103 0.264987 0.3078 0.2283 Uncertain 12_132400309_G->A 12 132400309 132400309 G A snp 298.77 0/1 99 14 4 10 0.71 intronic rs4964879 ULK1 AU NM_003565 exon19 c.20889-126G>A 0.298922 0.6022 Uncertain 12_132401642_T->C 12 132401642 132401642 T C snp 874.77 0/1 99 67 32 35 0.52 intronic rs7959651 ULK1 AU NM_003565 exon21 c.22061+35T>C 0.5691 0.2226 Uncertain 12_132401668_G->C 12 132401668 132401668 G C snp 498.77 0/1 99 38 20 18 0.47 intronic rs140238247 ULK1 AU NM_003565 exon21 c.22061+61G>C 0.383786 0.3065 Uncertain 12_132401684_T->C 12 132401684 132401684 T C snp 330.77 0/1 99 27 14 13 0.48 intronic rs7959669 ULK1 AU NM_003565 exon21 c.22061+77T>C 0.275759 0.255 Uncertain 12_132401689_G->C 12 132401689 132401689 G C snp 238.77 0/1 99 22 11 11 0.5 intronic rs185029788 ULK1 AU NM_003565 exon21 c.22061+82G>C Uncertain 12_132401710_C->G 12 132401710 132401710 C G snp 218.84 1/1 18 6 0 6 1.0 intronic rs117772339 ULK1 AU NM_003565 exon21 c.22061+103C>G Uncertain 12_132401852_G->T 12 132401852 132401852 G T snp 41.74 1/1 6 2 0 2 1.0 intronic rs78309542 ULK1 AU NM_003565 exon22 c.22409-103G>T Uncertain 12_132401855_A->G 12 132401855 132401855 A G snp 82.28 1/1 9 3 0 3 1.0 intronic rs74707391 ULK1 AU NM_003565 exon22 c.22409-100A>G Uncertain 12_132401866_C->T 12 132401866 132401866 C T snp 150.9 1/1 15 5 0 5 1.0 intronic rs4964919 ULK1 AU NM_003565 exon22 c.22409-89C>T Uncertain 12_132402020_T->C 12 132402020 132402020 T C snp 901.77 0/1 99 71 34 37 0.52 exonic rs4964918 ULK1 AU synonymous SNV NM_003565 exon22 c.T2247C p.P749P 0.603435 0.4236 0.648453 0.6328 0.4652 Uncertain 12_132402197_C->G 12 132402197 132402197 C G snp 252.77 0/1 99 29 19 10 0.34 intronic rs56816971 ULK1 AU NM_003565 exon22 c.22553+98C>G 0.179113 0.5565 Uncertain 12_132402874_T->G 12 132402874 132402874 T G snp 335.77 0/1 99 30 16 14 0.47 intronic rs76744108 ULK1 AU NM_003565 exon23 c.23495-167T>G 0.198682 0.5417 Uncertain 12_132403161_A->G 12 132403161 132403161 A G snp 2556.77 1/1 99 93 0 93 1.0 exonic rs11609348 ULK1 AU nonsynonymous SNV NM_003565 exon23 c.A2446G p.T816A 0.992212 1 0.990471 0.9975 1 1 T 0.963 P -0.944 T 0.0 T 0.001 T Pathogenic 12_132403267_GGGTGTGTG->- 12 132403267 132403275 GGGTGTGTG - indel 1234.73 0/1 99 41 9 32 0.78 intronic rs148784641 ULK1 AU NM_003565 exon23 c.23680+41_23680+49delGGGTGTGTG 0.177915 0.5427 0.066472 0.0274 0.2096 Uncertain 12_132403323_C->A 12 132403323 132403323 C A snp 230.8 0/1 21 9 2 7 0.78 intronic rs113517126 ULK1 AU NM_003565 exon23 c.23680+97C>A Uncertain 12_132403341_G->T 12 132403341 132403341 G T snp 71.77 0/1 30 4 1 3 0.75 intronic ULK1 AU NM_003565 exon23 c.23680+115G>T Uncertain 12_132404212_A->G 12 132404212 132404212 A G snp 2397.77 1/1 99 84 0 84 1.0 intronic rs7299195 ULK1 AU NM_003565 exon25 c.24589+77A>G 0.99381 1 Uncertain 12_132404259_C->T 12 132404259 132404259 C T snp 771.77 1/1 60 22 0 22 1.0 intronic rs7296365 ULK1 AU NM_003565 exon25 c.24589+124C>T 0.959465 1 Uncertain 12_132406275_A->C 12 132406275 132406275 A C snp 2568.77 1/1 99 83 0 83 1.0 UTR3 rs7311029 ULK1 AU 1 1 0.9999 1 Uncertain 12_132414769_G->T 12 132414769 132414769 G T snp 255.77 0/1 99 17 8 9 0.53 intronic rs10902480 PUS1 AR NM_025215 exon2 c.413+89G>T 0.783347 0.4643 Uncertain 12_132427909_A->G 12 132427909 132427909 A G snp 453.77 1/1 36 17 0 17 1.0 intronic rs7961398 PUS1 AR NM_025215 exon6 c.13816-174A>G 0.991813 1 Uncertain 12_132547093_-->CAG 12 132547093 132547093 - CAG indel 1522.73 0/1 99 96 38 58 0.6 exonic rs528214697 EP400 AU nonframeshift insertion NM_015409 exon47 c.8181_8182insCAG p.Q2727delinsQQ 0.373203 0.2391 ID=COSM1289714;OCCURENCE=1(haematopoietic_and_lymphoid_tissue),2(NS),1(breast) Uncertain 12_132552040_G->A 12 132552040 132552040 G A snp 313.77 0/1 99 27 9 18 0.67 intronic rs11246912 EP400 AU NM_015409 exon50 c.106867+9G>A 0.167332 0.5357 0.086109 0.1407 0.5398 Uncertain 12_132588463_A->C 12 132588463 132588463 A C snp 196.77 0/1 99 13 4 9 0.69 ncRNA_intronic rs138569033 EP400NL AU 0.0279553 0.0466 Uncertain 12_132589430_G->A 12 132589430 132589430 G A snp 131.77 0/1 97 12 5 7 0.58 ncRNA_intronic rs148493427 EP400NL AU 0.0367412 0.0466 0.0651 0.1583 0.15 T 1.000 N -1.076 T 0.94 T 0.22 D Uncertain 12_132589466_G->A 12 132589466 132589466 G A snp 109.77 0/1 30 10 4 6 0.6 ncRNA_intronic rs372765176 EP400NL AU 0.0279553 0.0466 0.0370 0.0867 0.08 T 0.514 N -0.214 T 1.0 D 0.992 D Uncertain 12_132589649_C->T 12 132589649 132589649 C T snp 990.77 0/1 99 72 33 39 0.54 ncRNA_intronic rs34521142 EP400NL AU 0.2231 0.1404 1 T 0.0 P -0.950 T 0.001 T 0.003 T Uncertain 12_132598922_G->A 12 132598922 132598922 G A snp 186.77 0/1 99 15 9 6 0.4 ncRNA_intronic rs76993126 EP400NL AU 0.0389377 0.0466 0.012922 Uncertain 12_132598995_C->T 12 132598995 132598995 C T snp 552.77 0/1 99 53 29 24 0.45 ncRNA_intronic rs7136649 EP400NL AU 0.338658 0.1736 0.328515 0.2659 0.1677 Uncertain 12_132623660_C->T 12 132623660 132623660 C T snp 173.77 0/1 99 24 15 9 0.38 UTR3 rs75289754 DDX51 AU 0.0291534 0.0486 Uncertain 12_132624252_G->A 12 132624252 132624252 G A snp 2374.77 0/1 99 201 98 103 0.51 exonic rs61729151 DDX51 AU synonymous SNV NM_175066 exon14 c.C1902T p.L634L 0.0371406 0.0476 0.011652 0.0265 0.0544 ID=COSM3688068;OCCURENCE=1(large_intestine) Uncertain 12_132625105_G->A 12 132625105 132625105 G A snp 1959.77 0/1 99 193 105 88 0.46 intronic rs9788169 DDX51 AU NM_175066 exon5 c.1268+21G>A 0.353834 0.1786 0.345180 0.2400 0.1502 Uncertain 12_132625318_T->C 12 132625318 132625318 T C snp 1881.77 0/1 99 170 86 84 0.49 intronic rs9787982 DDX51 AU NM_175066 exon6 c.1464+38T>C 0.053115 0.0476 0.031285 0.0322 0.0553 Uncertain 12_132625643_C->T 12 132625643 132625643 C T snp 660.77 0/1 99 28 7 21 0.75 intronic rs57037358 DDX51 AU NM_175066 exon7 c.1749+78C>T 0.329273 0.1776 Uncertain 12_132626425_G->A 12 132626425 132626425 G A snp 1087.77 0/1 99 87 43 44 0.51 exonic rs60927391 DDX51 AU nonsynonymous SNV NM_175066 exon6 c.C965T p.A322V 0.286142 0.1786 0.278316 0.2226 0.1495 0.45 T 0.979 P -0.943 T 0.099 T 0.135 T Pathogenic 12_132626668_T->C 12 132626668 132626668 T C snp 802.77 0/1 99 81 50 31 0.38 exonic rs1133690 DDX51 AU nonsynonymous SNV NM_175066 exon5 c.A884G p.Q295R 0.542332 0.753 0.560508 0.6338 0.7868 0.06 T 1.000 P -1.172 T 0.907 T 0.788 P Pathogenic 12_132627365_G->A 12 132627365 132627365 G A snp 1874.77 0/1 99 210 125 85 0.4 exonic rs61760237 DDX51 AU nonsynonymous SNV NM_175066 exon3 c.C578T p.T193I 0.0365415 0.0456 0.011218 0.0262 0.0532 0.37 T 1 N -0.860 T 0.685 T 0.167 P Pathogenic 12_132627552_G->A 12 132627552 132627552 G A snp 136.77 0/1 99 10 4 6 0.6 intronic rs145508857 DDX51 AU NM_175066 exon13 c.3607+129G>A 0.0289537 0.0486 Uncertain 12_132628281_C->T 12 132628281 132628281 C T snp 478.77 0/1 99 52 31 21 0.4 exonic rs78871841 DDX51 AU nonsynonymous SNV NM_175066 exon2 c.G478A p.G160S 0.0507188 0.0476 0.016463 0.0477 0.0669 0.58 T 1 N -0.893 T 0.066 T 0.004 T Pathogenic 12_132628285_G->A 12 132628285 132628285 G A snp 435.77 0/1 99 48 28 20 0.42 exonic rs191101265 DDX51 AU synonymous SNV NM_175066 exon2 c.C474T p.V158V 0.0429313 0.0476 0.008985 0.0457 0.0669 Uncertain 12_132628495_G->C 12 132628495 132628495 G C snp 951.77 0/1 99 68 25 43 0.63 intronic rs371187736 DDX51 AU NM_175066 exon14 c.4638+41G>C 0.0509185 0.0476 0.016846 0.0491 0.0738 Uncertain 12_132629625_C->G 12 132629625 132629625 C G snp 249.77 0/1 99 42 26 16 0.38 intronic rs116505899 NOC4L AU NM_024078 exon2 c.486+106C>G 0.0423323 0.0466 Uncertain 12_132630074_C->T 12 132630074 132630074 C T snp 1368.77 0/1 99 121 60 61 0.5 intronic rs149998274 NOC4L AU NM_024078 exon3 c.1070-29C>T 0.0289537 0.0476 0.004536 0.0247 0.0555 Uncertain 12_132630822_C->T 12 132630822 132630822 C T snp 2374.77 0/1 99 223 121 102 0.46 intronic rs10794454 NOC4L AU NM_024078 exon3 c.1177+612C>T 0.20607 0.1677 0.3128 0.1940 0.11 T 0.0 P -1.006 T Uncertain 12_132633458_G->A 12 132633458 132633458 G A snp 2089.77 1/1 99 80 0 80 1.0 intronic rs79736234 NOC4L AU NM_024078 exon9 c.4407+18G>A 0.433906 0.1885 0.5119 0.1795 Uncertain 12_132633462_A->C 12 132633462 132633462 A C snp 704.77 0/1 99 76 42 34 0.45 intronic rs76209745 NOC4L AU NM_024078 exon9 c.4407+22A>C 0.120008 0.0238 0.1319 0.0301 Uncertain 12_132633463_C->T 12 132633463 132633463 C T snp 1941.77 1/1 99 76 1 75 0.99 intronic rs11246942 NOC4L AU NM_024078 exon9 c.4407+23C>T 0.305312 0.1131 0.3370 0.0866 Uncertain 12_132633506_C->A 12 132633506 132633506 C A snp 842.77 1/1 63 27 0 27 1.0 intronic rs76606798 NOC4L AU NM_024078 exon9 c.4407+66C>A Uncertain 12_132633507_T->C 12 132633507 132633507 T C snp 400.77 0/1 99 27 12 15 0.56 intronic rs80035314 NOC4L AU NM_024078 exon9 c.4407+67T>C Uncertain 12_132635521_T->C 12 132635521 132635521 T C snp 1170.77 0/1 99 116 62 54 0.47 splicing rs7397057 NOC4L AU NM_024078 exon10 c.6492-4T>C 0.608027 0.5357 0.646728 0.6659 0.5027 Pathogenic 12_132635779_C->T 12 132635779 132635779 C T snp 896.77 0/1 99 90 54 36 0.4 intronic rs12818246 NOC4L AU NM_024078 exon11 c.6769-23C>T 0.480631 0.5268 0.531957 0.5739 0.4936 Uncertain 12_132635989_A->G 12 132635989 132635989 A G snp 1255.77 0/1 99 129 78 51 0.4 intronic rs11246947 NOC4L AU NM_024078 exon12 c.6995-39A>G 0.359425 0.3244 0.336678 0.3396 0.3381 Uncertain 12_132636400_G->A 12 132636400 132636400 G A snp 559.77 0/1 99 42 20 22 0.52 intronic rs11246948 NOC4L AU NM_024078 exon13 c.7332+35G>A 0.245807 0.2788 0.237736 0.2881 0.2921 Uncertain 12_132682481_T->G 12 132682481 132682481 T G snp 5510.77 1/1 99 221 0 221 1.0 exonic rs12308155 GALNT9 AU synonymous SNV NM_021808 exon6 c.A423C p.G141G 0.766374 0.6776 0.789791 0.7566 0.6530 1.000 P -1.035 T Likely benign 12_132682484_A->G 12 132682484 132682484 A G snp 5469.77 1/1 99 218 1 217 1.0 exonic rs12306514 GALNT9 AU synonymous SNV NM_021808 exon6 c.T420C p.D140D 0.766374 0.6776 0.789647 0.7563 0.6526 1.000 P -1.052 T Likely benign 12_132683632_A->C 12 132683632 132683632 A C snp 513.77 1/1 39 13 0 13 1.0 intronic rs4074045 GALNT9 AU NM_001122636 exon3 c.2067-86A>C 0.759585 0.6736 Uncertain 12_132683690_G->A 12 132683690 132683690 G A snp 1698.77 1/1 99 54 0 54 1.0 intronic rs4074046 GALNT9 AU NM_001122636 exon3 c.2067-28G>A 0.400359 0.3998 0.455673 0.4657 0.3826 Uncertain 12_132683862_G->A 12 132683862 132683862 G A snp 3186.77 1/1 99 122 1 121 0.99 intronic rs6598205 GALNT9 AU NM_001122636 exon3 c.2163+48G>A 0.741813 0.6736 0.771832 0.7226 0.6598 Uncertain 12_132683961_T->C 12 132683961 132683961 T C snp 1050.77 1/1 78 31 0 31 1.0 intronic rs6598206 GALNT9 AU NM_001122636 exon3 c.2163+147T>C 0.899361 1 Uncertain 12_132685566_C->T 12 132685566 132685566 C T snp 914.77 1/1 69 26 0 26 1.0 intronic rs7953158 GALNT9 AU NM_001122636 exon4 c.4017-102C>T 0.51278 0.4802 Uncertain 12_132685826_T->C 12 132685826 132685826 T C snp 4768.77 1/1 99 164 0 164 1.0 intronic rs11246988 GALNT9 AU NM_001122636 exon4 c.4155+20T>C 0.551318 0.4881 0.609207 0.5692 0.4487 Uncertain 12_132685837_A->G 12 132685837 132685837 A G snp 4027.77 1/1 99 141 0 141 1.0 intronic rs10794457 GALNT9 AU NM_001122636 exon4 c.4155+31A>G 0.791733 0.7312 0.829132 0.8099 0.6968 Uncertain 12_132685899_G->C 12 132685899 132685899 G C snp 1932.77 1/1 99 60 0 60 1.0 intronic rs11246989 GALNT9 AU NM_001122636 exon4 c.4155+93G>C 0.553115 0.4891 Uncertain 12_132685940_-->GGCCCCATCC 12 132685940 132685940 - GGCCCCATCC indel 2227.73 1/1 63 27 0 27 1.0 intronic rs397948123 GALNT9 AU NM_001122636 exon4 c.4155+134insGGCCCCATCC Uncertain 12_132685951_A->G 12 132685951 132685951 A G snp 49.77 0/1 78 10 7 3 0.3 intronic GALNT9 AU NM_001122636 exon4 c.4155+145A>G Uncertain 12_132685953_T->G 12 132685953 132685953 T G snp 267.8 1/1 21 7 0 7 1.0 intronic rs59310537 GALNT9 AU NM_001122636 exon4 c.4155+147T>G 0.552716 0.4881 Uncertain 12_132685958_-->CC 12 132685958 132685958 - CC indel 263.77 1/1 21 7 0 7 1.0 intronic rs35906641 GALNT9 AU NM_001122636 exon4 c.4155+152insCC 0.505591 0.4067 Uncertain 12_132688137_A->G 12 132688137 132688137 A G snp 6308.77 1/1 99 235 1 234 1.0 exonic rs7486927 GALNT9 AU synonymous SNV NM_021808 exon3 c.T78C p.Y26Y 0.569289 0.4911 0.621434 0.5748 0.4584 1.000 P -0.964 T Likely benign 12_132688279_A->G 12 132688279 132688279 A G snp 1499.77 1/1 99 45 0 45 1.0 intronic rs10902510 GALNT9 AU NM_001122636 exon5 c.6584+44A>G 0.727436 0.7143 0.768068 0.7674 0.6399 Uncertain 12_132839224_C->T 12 132839224 132839224 C T snp 795.77 0/1 99 58 25 33 0.57 intronic GALNT9 AU NM_001122636 exon9 c.157560+13C>T Uncertain 12_132839265_A->G 12 132839265 132839265 A G snp 87.77 0/1 99 19 15 4 0.21 intronic GALNT9 AU NM_001122636 exon9 c.157560+54A>G 0.666733 0.6706 Uncertain 12_132852957_C->A 12 132852957 132852957 C A snp 2892.77 0/1 99 250 138 112 0.45 ncRNA_exonic LOC100130238 AU 0.605631 0.5933 Uncertain 12_132862976_G->A 12 132862976 132862976 G A snp 970.77 0/1 99 95 54 41 0.43 exonic GALNT9 AU synonymous SNV NM_001122636 exon2 c.C279T p.G93G 0.342452 0.4415 0.3106 0.4478 Uncertain 12_132911861_G->C 12 132911861 132911861 G C snp 101.28 1/1 9 4 0 4 1.0 intergenic LOC101928416 AU 0.522165 0.6151 Uncertain 12_132911948_T->C 12 132911948 132911948 T C snp 160.77 0/1 99 16 8 8 0.5 intergenic LOC101928416 AU 0.491214 0.5387 Uncertain 12_132912031_A->G 12 132912031 132912031 A G snp 138.77 0/1 66 8 3 5 0.63 intergenic LOC101928416 AU 0.219249 0.251 Uncertain 12_133031898_A->G 12 133031898 133031898 A G snp 920.77 0/1 99 67 32 35 0.52 intergenic rs10870487 LOC101928416 AU 0.745807 0.6885 Uncertain 12_133032047_-->GTGTGTGCATGTTGAC 12 133032047 133032047 - GTGTGTGCATGTTGAC indel 3898.73 0/1 99 72 39 33 0.46 intergenic rs372899188 LOC101928416 AU Uncertain 12_133032110_T->C 12 133032110 133032110 T C snp 277.77 0/1 99 28 19 9 0.32 intergenic rs9706362 LOC101928416 AU 0.73722 0.6875 Uncertain 12_133102462_G->A 12 133102462 133102462 G A snp 983.77 1/1 72 31 1 30 0.97 intronic rs4883569 FBRSL1 AU NM_001142641 exon3 c.35253+53G>A 0.433107 0.4067 0.382727 Uncertain 12_133104406_G->A 12 133104406 133104406 G A snp 453.77 1/1 36 13 0 13 1.0 intronic rs7135930 FBRSL1 AU NM_001142641 exon4 c.37382-132G>A 0.327276 0.3998 Uncertain 12_133104461_A->G 12 133104461 133104461 A G snp 1531.77 1/1 99 48 0 48 1.0 intronic rs4883566 FBRSL1 AU NM_001142641 exon4 c.37382-77A>G 0.753195 0.6567 0.765878 Uncertain 12_133104735_T->C 12 133104735 133104735 T C snp 2381.77 1/1 99 75 0 75 1.0 intronic rs4883565 FBRSL1 AU NM_001142641 exon4 c.37418+161T>C 0.371605 0.5218 Uncertain 12_133153281_A->T 12 133153281 133153281 A T snp 1139.77 1/1 84 36 0 36 1.0 intronic rs10870473 FBRSL1 AU NM_001142641 exon13 c.86228-103A>T 0.826478 0.9831 Uncertain 12_133158632_C->T 12 133158632 133158632 C T snp 681.77 1/1 51 17 0 17 1.0 ncRNA_exonic rs3751304 MIR6763 AU 0.733427 0.8065 0.694493 0.7193 0.8449 Uncertain 12_133159733_C->T 12 133159733 133159733 C T snp 1221.77 1/1 87 44 0 44 1.0 exonic rs11550079 FBRSL1 AU nonsynonymous SNV NM_001142641 exon17 c.C2507T p.A836V 0.544129 0.7113 0.4782 0.7231 0.12 T 0.0 P -1.010 T 0.839 T 0.32 P Pathogenic 12_133181399_T->C 12 133181399 133181399 T C snp 4596.77 1/1 99 172 0 172 1.0 exonic rs11146963 LRCOL1 AU nonsynonymous SNV NM_001195520 exon3 c.A124G p.R42G 0.721645 0.7808 0.6042 0.8252 Pathogenic 12_133181425_A->G 12 133181425 133181425 A G snp 4412.77 1/1 99 166 0 166 1.0 intronic rs11146964 LRCOL1 AU NM_001195520 exon4 c.1430+8A>G 0.702077 0.7708 0.6018 0.8252 Uncertain 12_133182566_C->A 12 133182566 133182566 C A snp 56.74 1/1 6 2 0 2 1.0 intronic rs11146968 LRCOL1 AU NM_001195520 exon5 c.2745-166C>A 0.354034 0.6121 Uncertain 12_133182818_G->A 12 133182818 133182818 G A snp 2261.77 1/1 99 86 0 86 1.0 exonic rs12819734 LRCOL1 AU nonsynonymous SNV NM_001195520 exon2 c.C20T p.T7M 0.510184 0.619 0.4709 0.6696 Pathogenic 12_133195311_A->C 12 133195311 133195311 A C snp 94.28 1/1 9 3 0 3 1.0 upstream rs6560890 P2RX2 AD 0.728634 0.7837 Uncertain 12_133195580_GCGGGGCGCGGGGT->- 12 133195580 133195593 GCGGGGCGCGGGGT - indel 6702.73 1/1 99 101 0 101 1.0 splicing rs200710959 P2RX2 AD NM_170683 exon1 c.173+5_173+18delGCGGGGCGCGGGGT 0.498203 0.5565 0.760115 0.6659 0.8246 Pathogenic 12_133195625_G->A 12 133195625 133195625 G A snp 1054.77 1/1 78 41 2 39 0.95 intronic rs11146976 P2RX2 AD NM_170683 exon1 c.173+50G>A 0.723842 0.8075 0.8891 0.9298 Uncertain 12_133196596_T->C 12 133196596 133196596 T C snp 1817.77 1/1 99 62 0 62 1.0 exonic rs7964634 P2RX2 AD synonymous SNV NM_174873 exon5 c.T468C p.T156T 0.712859 0.7808 0.654328 0.6551 0.8038 1.0 P -0.986 T Likely benign 12_133196733_C->T 12 133196733 133196733 C T snp 501.77 1/1 39 17 0 17 1.0 intronic rs7955816 P2RX2 AD NM_170683 exon5 c.1280+51C>T 0.694489 0.7778 0.623094 0.6193 0.7961 Uncertain 12_133196773_T->G 12 133196773 133196773 T G snp 1184.77 1/1 90 33 0 33 1.0 intronic rs7964872 P2RX2 AD NM_170683 exon6 c.1450-79T>G 0.710863 0.7788 Uncertain 12_133196839_C->T 12 133196839 133196839 C T snp 1254.77 0/1 99 111 56 55 0.5 intronic rs202059124 P2RX2 AD NM_170683 exon6 c.1450-13C>T 0.000199681 0.001 8.263e-05 0.0012 Uncertain 12_133197018_G->A 12 133197018 133197018 G A snp 5323.77 1/1 99 191 0 191 1.0 intronic rs6560891 P2RX2 AD NM_170683 exon7 c.1628-12G>A 0.707668 0.7788 0.654313 0.6392 0.8112 Uncertain 12_133197289_A->- 12 133197289 133197289 A - indel 197.8 1/1 18 8 0 8 1.0 intronic rs11364942 P2RX2 AD NM_001282164 exon6 c.1772+115delA 0.710264 0.7669 Uncertain 12_133198021_C->T 12 133198021 133198021 C T snp 7477.77 1/1 99 250 1 249 1.0 intronic rs4883632 P2RX2 AD NM_170683 exon10 c.2658-39C>T 0.583466 0.754 0.514609 0.5225 0.7799 Uncertain 12_133201947_T->C 12 133201947 133201947 T C snp 4312.77 1/1 99 152 0 152 1.0 intronic rs4883544 POLE AR,AD NM_006231 exon3 c.948-283T>C 0.716254 0.7798 0.645550 0.6446 0.8138 0.44 T 0.0 P -1.009 T Uncertain 12_133202004_C->T 12 133202004 133202004 C T snp 4713.77 1/1 99 172 0 172 1.0 intronic rs4883543 POLE AR,AD NM_006231 exon3 c.948-226C>T 0.566494 0.6746 0.467376 0.4917 0.7069 0.0 P Uncertain 12_133202215_G->A 12 133202215 133202215 G A snp 6251.77 1/1 99 224 1 223 1.0 intronic rs5745075 POLE AR,AD NM_006231 exon3 c.948-15G>A 0.423323 0.6657 0.320314 0.3703 0.7006 Uncertain 12_133202428_G->A 12 133202428 133202428 G A snp 1925.77 1/1 99 52 0 52 1.0 intronic rs5745073 POLE AR,AD NM_006231 exon3 c.1074+72G>A 0.418131 0.6647 Uncertain 12_133208886_C->T 12 133208886 133208886 C T snp 501.77 1/1 39 16 0 16 1.0 intronic rs5745023 POLE AR,AD NM_006231 exon5 c.7618-14C>T 0.565096 0.6736 0.480317 0.4941 0.7089 Uncertain 12_133208979_T->C 12 133208979 133208979 T C snp 2282.77 1/1 99 78 0 78 1.0 exonic rs5745022 POLE AR,AD synonymous SNV NM_006231 exon45 c.A6252G p.S2084S 0.699081 0.7788 0.642703 0.6381 0.8133 Uncertain 12_133209593_T->C 12 133209593 133209593 T C snp 126.03 1/1 12 4 0 4 1.0 intronic rs5745020 POLE AR,AD NM_006231 exon6 c.8099+212T>C 0.699081 0.7788 Uncertain 12_133210985_C->T 12 133210985 133210985 C T snp 1140.77 1/1 84 34 0 34 1.0 intronic rs5745005 POLE AR,AD NM_006231 exon7 c.9682+21C>T 0.713458 0.7788 0.656543 0.6448 0.8129 Uncertain 12_133212692_T->C 12 133212692 133212692 T C snp 2508.77 1/1 99 81 0 81 1.0 intronic rs4883625 POLE AR,AD NM_006231 exon8 c.11328+82T>C 0.727636 0.7798 Uncertain 12_133212737_C->T 12 133212737 133212737 C T snp 1151.77 1/1 84 32 0 32 1.0 intronic rs4883624 POLE AR,AD NM_006231 exon8 c.11328+127C>T 0.608626 0.6736 Uncertain 12_133214517_G->A 12 133214517 133214517 G A snp 1123.77 1/1 84 31 0 31 1.0 intronic rs5744975 POLE AR,AD NM_006231 exon9 c.13317-82G>A 0.585264 0.6696 Uncertain 12_133214522_G->C 12 133214522 133214522 G C snp 1232.77 1/1 90 32 0 32 1.0 intronic rs5744974 POLE AR,AD NM_006231 exon9 c.13317-77G>C 0.716054 0.7768 Uncertain 12_133214768_A->G 12 133214768 133214768 A G snp 4960.77 1/1 99 180 0 180 1.0 intronic rs5744970 POLE AR,AD NM_006231 exon9 c.13443+43A>G 0.729034 0.7788 0.674765 0.6478 0.8131 Uncertain 12_133218724_C->T 12 133218724 133218724 C T snp 562.77 1/1 42 19 0 19 1.0 intronic rs5744951 POLE AR,AD NM_006231 exon12 c.17480-38C>T 0.588658 0.6736 0.502922 0.4963 0.7083 Uncertain 12_133219831_T->C 12 133219831 133219831 T C snp 3379.77 1/1 99 123 0 123 1.0 exonic rs5744944 POLE AR,AD synonymous SNV NM_006231 exon35 c.A4530G p.A1510A 0.605232 0.6736 0.522374 0.5032 0.7080 Uncertain 12_133220321_T->A 12 133220321 133220321 T A snp 600.77 1/1 45 16 0 16 1.0 intronic rs4883614 POLE AR,AD NM_006231 exon17 c.19140-101T>A 0.727436 0.7798 Uncertain 12_133220652_-->G 12 133220652 133220652 - G indel 1786.73 1/1 99 45 0 45 1.0 intronic rs397697890 POLE AR,AD NM_006231 exon17 c.19281+89insG 0.728834 0.7798 Uncertain 12_133220670_G->A 12 133220670 133220670 G A snp 994.77 1/1 72 35 0 35 1.0 intronic rs10870483 POLE AR,AD NM_006231 exon17 c.19281+107G>A 0.727436 0.7798 Uncertain 12_133225446_G->T 12 133225446 133225446 G T snp 3242.77 1/1 99 115 0 115 1.0 intronic rs4883538 POLE AR,AD NM_006231 exon18 c.24232-68G>T 0.588858 0.6736 Uncertain 12_133226159_T->C 12 133226159 133226159 T C snp 1110.77 1/1 81 36 0 36 1.0 intronic rs4883613 POLE AR,AD NM_006231 exon19 c.24819+58T>C 0.728834 0.7798 Uncertain 12_133226196_G->A 12 133226196 133226196 G A snp 680.77 1/1 51 20 0 20 1.0 intronic rs4883537 POLE AR,AD NM_006231 exon20 c.24980-66G>A 0.585863 0.6726 Uncertain 12_133233705_T->C 12 133233705 133233705 T C snp 1661.77 1/1 99 50 0 50 1.0 intronic rs5744889 POLE AR,AD NM_006231 exon21 c.32439-16T>C 0.983826 1 0.972936 0.9712 0.9998 Uncertain 12_133234390_AT->- 12 133234390 133234391 AT - indel 2800.73 1/1 99 56 0 56 1.0 intronic rs527495107 POLE AR,AD NM_006231 exon23 c.33171-63_33171-62delAT 0.575879 0.6677 Uncertain 12_133234741_-->GTGT 12 133234741 133234741 - GTGT indel 598.74 1/1 27 13 0 13 1.0 intronic rs10649524 POLE AR,AD NM_006231 exon23 c.33274+185insGTGT Uncertain 12_133236000_C->T 12 133236000 133236000 C T snp 7071.77 1/1 99 250 0 250 1.0 exonic rs5744857 POLE AR,AD synonymous SNV NM_006231 exon26 c.G3156A p.T1052T 0.605431 0.6736 0.522451 0.5029 0.7078 Uncertain 12_133238076_T->C 12 133238076 133238076 T C snp 2745.77 1/1 99 103 0 103 1.0 intronic rs5744844 POLE AR,AD NM_006231 exon26 c.36830-36T>C 0.577276 0.6736 0.492696 0.4955 0.7082 Uncertain 12_133240782_A->G 12 133240782 133240782 A G snp 1280.77 1/1 96 43 0 43 1.0 intronic rs4883592 POLE AR,AD NM_006231 exon27 c.39452+48A>G 0.605831 0.6756 0.522605 0.5048 0.7094 Uncertain 12_133242140_A->G 12 133242140 133242140 A G snp 952.77 1/1 69 34 0 34 1.0 intronic rs4883586 POLE AR,AD NM_006231 exon29 c.40754+104A>G 0.564896 0.6736 Uncertain 12_133245149_A->G 12 133245149 133245149 A G snp 4469.77 1/1 99 165 0 165 1.0 intronic rs5744798 POLE AR,AD NM_006231 exon31 c.43806+61A>G 0.602436 0.6736 Uncertain 12_133248855_G->A 12 133248855 133248855 G A snp 2360.77 0/1 99 177 74 103 0.58 exonic rs114972594 POLE AR,AD synonymous SNV NM_006231 exon16 c.C1740T p.H580H 0.000199681 0.001 0.0002 0.0027 Uncertain 12_133249017_G->A 12 133249017 133249017 G A snp 373.77 1/1 30 11 0 11 1.0 intronic rs5744783 POLE AR,AD NM_006231 exon34 c.47626+109G>A 0.577077 0.6736 Uncertain 12_133249139_T->A 12 133249139 133249139 T A snp 4603.77 1/1 99 150 0 150 1.0 intronic rs5744780 POLE AR,AD NM_006231 exon35 c.47930-73T>A 0.564896 0.6736 Uncertain 12_133250118_C->T 12 133250118 133250118 C T snp 4859.77 1/1 99 190 5 185 0.97 intronic rs4883555 POLE AR,AD NM_006231 exon37 c.48878-42C>T 0.576478 0.6736 0.492617 0.4957 0.7100 Uncertain 12_133250442_A->G 12 133250442 133250442 A G snp 285.78 1/1 24 8 0 8 1.0 intronic rs5744774 POLE AR,AD NM_006231 exon37 c.49011+149A>G 0.605032 0.6736 Uncertain 12_133252556_T->C 12 133252556 133252556 T C snp 1485.77 1/1 99 42 0 42 1.0 intronic rs4883545 POLE AR,AD NM_006231 exon40 c.51397-123T>C 0.662141 0.7788 Uncertain 12_133263743_A->C 12 133263743 133263743 A C snp 222.84 1/1 18 6 0 6 1.0 intronic rs111877885 POLE AR,AD NM_006231 exon49 c.62557-96A>C 1 1 Uncertain 12_133277983_T->C 12 133277983 133277983 T C snp 702.77 1/1 51 25 0 25 1.0 intronic rs7958567 PXMP2 AU NM_018663 exon4 c.13699+28T>C 0.984625 1 0.968784 0.9719 1 Uncertain 12_133278075_G->T 12 133278075 133278075 G T snp 46.74 1/1 6 2 0 2 1.0 intronic rs4883610 PXMP2 AU NM_018663 exon4 c.13699+120G>T 0.769169 0.8313 Uncertain 12_133287721_A->G 12 133287721 133287721 A G snp 436.77 1/1 33 17 0 17 1.0 intronic rs7973452 PGAM5 AU NM_001170543 exon1 c.191+68A>G 0.596246 0.8026 Uncertain 12_133291679_-->TCC 12 133291679 133291679 - TCC indel 828.73 1/1 45 17 0 17 1.0 intronic rs139395565 PGAM5 AU NM_001170543 exon2 c.4160+57insTCC 0.683307 0.8323 Uncertain 12_133293885_C->A 12 133293885 133293885 C A snp 96.28 1/1 9 3 0 3 1.0 intronic rs113792943 PGAM5 AU NM_001170543 exon3 c.6562-139C>A 0.0195687 Uncertain 12_133293889_C->T 12 133293889 133293889 C T snp 94.28 1/1 9 3 0 3 1.0 intronic PGAM5 AU NM_001170543 exon3 c.6562-135C>T Uncertain 12_133293899_G->C 12 133293899 133293899 G C snp 176.9 1/1 15 5 0 5 1.0 intronic PGAM5 AU NM_001170543 exon3 c.6562-125G>C Uncertain 12_133294231_G->T 12 133294231 133294231 G T snp 1294.77 0/1 99 106 55 51 0.48 intronic rs11147013 PGAM5 AU NM_001170543 exon4 c.6833-64G>T 0.199281 0.3562 Uncertain 12_133294728_C->T 12 133294728 133294728 C T snp 2718.77 1/1 99 108 0 108 1.0 intronic rs11147014 PGAM5 AU NM_001170543 exon5 c.7244+22C>T 0.149161 0.502 0.024938 0.1084 0.5281 Uncertain 12_133295131_T->- 12 133295131 133295131 T - indel 219.8 1/1 18 7 0 7 1.0 intronic PGAM5 AU NM_138575 exon6 c.7885-216delT Uncertain 12_133295161_-->T 12 133295161 133295161 - T indel 1448.73 1/1 99 34 0 34 1.0 intronic PGAM5 AU NM_138575 exon6 c.7885-186insT Uncertain 12_133295353_C->T 12 133295353 133295353 C T snp 7939.77 1/1 99 249 0 249 1.0 intronic rs12423651 PGAM5 AU NM_138575 exon6 c.7885+6C>T 0.14996 0.505 0.026142 0.1087 0.5299 0 D 0.000 P -0.918 T 1.0 D 1.0 D Uncertain 12_133295501_T->C 12 133295501 133295501 T C snp 2068.77 1/1 99 57 0 57 1.0 intronic rs11147015 PGAM5 AU NM_138575 exon6 c.7885+154T>C 0.256789 0.5298 Uncertain 12_133297103_T->C 12 133297103 133297103 T C snp 388.77 1/1 30 11 0 11 1.0 intronic rs10781631 PGAM5 AU NM_001170543 exon6 c.9801-160T>C 0.678914 0.7986 Uncertain 12_133304146_C->T 12 133304146 133304146 C T snp 1806.77 1/1 99 55 1 54 0.98 intronic rs10437912 ANKLE2 AR NM_015114 exon1 c.202+117C>T 0.510982 0.6081 Uncertain 12_133304149_G->C 12 133304149 133304149 G C snp 1903.77 1/1 99 51 0 51 1.0 intronic rs10437913 ANKLE2 AR NM_015114 exon1 c.202+120G>C 0.510982 0.6081 Uncertain 12_133304173_C->T 12 133304173 133304173 C T snp 543.77 1/1 42 15 1 14 0.93 intronic rs10437914 ANKLE2 AR NM_015114 exon1 c.202+144C>T 0.270367 0.2917 Uncertain 12_133304174_A->G 12 133304174 133304174 A G snp 503.77 1/1 39 13 0 13 1.0 intronic rs10437915 ANKLE2 AR NM_015114 exon1 c.202+145A>G 0.551717 0.6488 Uncertain 12_133304182_G->A 12 133304182 133304182 G A snp 431.77 1/1 33 11 0 11 1.0 intronic rs555826589 ANKLE2 AR NM_015114 exon1 c.202+153G>A 0.484026 0.5288 Uncertain 12_133304183_T->C 12 133304183 133304183 T C snp 429.77 1/1 33 11 0 11 1.0 intronic rs77178508 ANKLE2 AR NM_015114 exon1 c.202+154T>C 0.484026 0.5288 Uncertain 12_133304187_A->G 12 133304187 133304187 A G snp 436.77 1/1 33 11 0 11 1.0 intronic rs76784234 ANKLE2 AR NM_015114 exon1 c.202+158A>G Uncertain 12_133304604_C->T 12 133304604 133304604 C T snp 3185.74 1/1 99 115 0 115 1.0 intronic rs11147024 ANKLE2 AR NM_015114 exon2 c.790-13C>T 0.294529 0.494 0.171791 0.2218 0.5208 Uncertain 12_133304891_T->C 12 133304891 133304891 T C snp 317.78 1/1 27 11 0 11 1.0 intronic rs10870499 ANKLE2 AR NM_015114 exon2 c.922+142T>C 0.64357 0.7966 Uncertain 12_133306946_C->T 12 133306946 133306946 C T snp 1174.77 1/1 87 34 0 34 1.0 intronic rs80331242 ANKLE2 AR NM_015114 exon3 c.3029+90C>T 0.214457 0.5099 Uncertain 12_133306964_A->G 12 133306964 133306964 A G snp 427.77 1/1 33 11 0 11 1.0 intronic rs61951276 ANKLE2 AR NM_015114 exon3 c.3029+108A>G Uncertain 12_133306965_T->C 12 133306965 133306965 T C snp 338.78 1/1 27 9 0 9 1.0 intronic rs61951277 ANKLE2 AR NM_015114 exon3 c.3029+109T>C Uncertain 12_133306967_C->T 12 133306967 133306967 C T snp 332.78 1/1 27 9 0 9 1.0 intronic rs61951278 ANKLE2 AR NM_015114 exon3 c.3029+111C>T Uncertain 12_133306979_C->T 12 133306979 133306979 C T snp 90.28 1/1 9 3 0 3 1.0 intronic rs573495762 ANKLE2 AR NM_015114 exon3 c.3029+123C>T 0.362819 0.5347 Uncertain 12_133310887_C->T 12 133310887 133310887 C T snp 178.9 1/1 15 5 0 5 1.0 intronic rs7969633 ANKLE2 AR NM_015114 exon4 c.7143-83C>T 0.754992 0.8046 Uncertain 12_133311888_C->G 12 133311888 133311888 C G snp 1712.77 1/1 99 62 0 62 1.0 intronic rs10781636 ANKLE2 AR NM_015114 exon5 c.8164-103C>G 0.559305 0.7976 Uncertain 12_133311944_T->C 12 133311944 133311944 T C snp 3016.77 1/1 99 116 0 116 1.0 intronic rs10747081 ANKLE2 AR NM_015114 exon5 c.8164-47T>C 0.646366 0.7976 0.605388 0.6488 0.7988 Uncertain 12_133312191_T->C 12 133312191 133312191 T C snp 468.77 1/1 36 15 0 15 1.0 intronic rs10781637 ANKLE2 AR NM_015114 exon5 c.8271+93T>C 0.636981 0.7599 Uncertain 12_133313330_C->T 12 133313330 133313330 C T snp 687.77 0/1 99 42 18 24 0.57 intronic rs143561672 ANKLE2 AR NM_015114 exon6 c.9651-148C>T 0.014377 0.0169 Uncertain 12_133313337_G->A 12 133313337 133313337 G A snp 1465.77 1/1 99 47 0 47 1.0 intronic rs10870504 ANKLE2 AR NM_015114 exon6 c.9651-141G>A 0.208866 0.4921 Uncertain 12_133313372_C->A 12 133313372 133313372 C A snp 2127.77 1/1 99 73 0 73 1.0 intronic rs7313956 ANKLE2 AR NM_015114 exon6 c.9651-106C>A 0.372005 0.6002 Uncertain 12_133338449_C->A 12 133338449 133338449 C A snp 312.78 1/1 24 11 0 11 1.0 UTR5 rs112689984 ANKLE2 AR 0.207268 0.4573 Uncertain 12_133353168_C->T 12 133353168 133353168 C T snp 433.77 1/1 33 11 0 11 1.0 intergenic rs7303430 ANKLE2 AR Uncertain 12_133354470_T->C 12 133354470 133354470 T C snp 5976.77 1/1 99 209 0 209 1.0 intergenic rs900444 ANKLE2 AR 0.783147 0.873 Uncertain 12_133360530_T->C 12 133360530 133360530 T C snp 1221.77 1/1 90 34 0 34 1.0 UTR3 rs11147073 GOLGA3 AU 0.969449 1 Uncertain 12_133360964_G->A 12 133360964 133360964 G A snp 1682.77 1/1 99 53 0 53 1.0 intronic rs1009320 GOLGA3 AU NM_001172557 exon1 c.282+71G>A 0.493011 0.629 Uncertain 12_133363376_G->T 12 133363376 133363376 G T snp 2313.77 1/1 99 93 0 93 1.0 splicing rs7976379 GOLGA3 AU NM_001172557 exon3 c.2762+3G>T 0.823083 0.9405 0.785791 0.8077 0.9522 Pathogenic 12_133365497_A->C 12 133365497 133365497 A C snp 88.28 1/1 9 4 0 4 1.0 intronic rs968522 GOLGA3 AU NM_001172557 exon4 c.5001-115A>C 0.96246 1 Uncertain 12_133365920_G->A 12 133365920 133365920 G A snp 272.8 1/1 21 10 0 10 1.0 intronic rs11147076 GOLGA3 AU NM_001172557 exon4 c.5265+44G>A 0.392971 0.5159 0.283945 0.3401 0.5419 Uncertain 12_133372395_A->C 12 133372395 133372395 A C snp 4873.77 ./1 99 175 2 173 0.99 intronic rs4758905 GOLGA3 AU NM_001172557 exon6 c.11826-42A>C 0.665935 0.8056 0.641166 0.6914 0.8129 Uncertain 12_133372395_A->T 12 133372395 133372395 A T snp 4873.77 ./1 99 175 2 173 0.99 intronic rs4758905 GOLGA3 AU NM_001172557 exon6 c.11826-42A>T 0.000399361 0.0002 0.0001 Uncertain 12_133378245_C->- 12 133378245 133378245 C - indel 2061.73 1/1 99 54 0 54 1.0 intronic rs149456851 GOLGA3 AU NM_001172557 exon9 c.17741-107delC 0.413738 0.5139 Uncertain 12_133378440_C->T 12 133378440 133378440 C T snp 5277.77 1/1 99 197 1 196 0.99 exonic rs2291258 GOLGA3 AU synonymous SNV NM_001172557 exon8 c.G1713A p.L571L 0.415335 0.5159 0.332821 0.3321 0.5357 Uncertain 12_133383923_T->C 12 133383923 133383923 T C snp 1281.77 1/1 90 47 0 47 1.0 intronic rs10781653 GOLGA3 AU NM_001172557 exon11 c.23263+49T>C 0.962859 1 0.960908 0.9805 1 Uncertain 12_133385188_A->T 12 133385188 133385188 A T snp 1807.77 1/1 99 63 0 63 1.0 intronic rs3741488 GOLGA3 AU NM_001172557 exon12 c.24524+53A>T 0.526158 0.63 Uncertain 12_133398506_TCCTCCCTCAACACCACG->- 12 133398506 133398523 TCCTCCCTCAACACCACG - indel 10886.7 0/1 99 149 85 64 0.43 intronic rs200545199 GOLGA3 AU NM_001172557 exon15 c.37970-75_37970-58delTCCTCCCTCAACACCACG Uncertain 12_133413131_G->A 12 133413131 133413131 G A snp 54.74 1/1 6 2 0 2 1.0 intergenic rs372406095 GOLGA3 AU Uncertain 12_133423866_G->A 12 133423866 133423866 G A snp 646.77 1/1 48 19 0 19 1.0 intronic rs10747087 CHFR AU NM_001161347 exon4 c.5577+150G>A 0.970647 1 Uncertain 12_133428032_G->A 12 133428032 133428032 G A snp 1572.77 1/1 99 49 0 49 1.0 intronic rs2062161 CHFR AU NM_001161347 exon7 c.10064-171G>A 0.184505 0.4504 Uncertain 12_133428466_G->A 12 133428466 133428466 G A snp 56.74 1/1 6 2 0 2 1.0 intronic rs7134338 CHFR AU NM_001161347 exon7 c.10184+143G>A 0.999401 1 Uncertain 12_133433173_T->C 12 133433173 133433173 T C snp 3068.77 1/1 99 116 0 116 1.0 exonic rs2062163 CHFR AU synonymous SNV NM_018223 exon10 c.A1023G p.R341R 0.970248 0.999 0.967092 0.9907 1 Uncertain 12_133439115_G->A 12 133439115 133439115 G A snp 348.78 1/1 27 12 0 12 1.0 intronic rs9943858 CHFR AU NM_018223 exon13 c.20872+104G>A 0.963458 1 Uncertain 12_133448815_G->A 12 133448815 133448815 G A snp 552.77 0/1 99 65 41 24 0.37 intronic rs2291254 CHFR AU NM_001161347 exon13 c.30731-55G>A 0.134784 0.2272 Uncertain 12_133578063_C->A 12 133578063 133578063 C A snp 791.77 1/1 60 23 0 23 1.0 intergenic rs115295306 ZNF605 AU Uncertain 12_133578159_A->G 12 133578159 133578159 A G snp 3200.06 1/1 99 117 0 117 1.0 intergenic rs4758930 ZNF605 AU Uncertain 12_133587980_C->T 12 133587980 133587980 C T snp 4268.77 1/1 99 152 0 152 1.0 intergenic rs115409196 ZNF605 AU Uncertain 12_133633459_A->G 12 133633459 133633459 A G snp 302.78 1/1 24 10 0 10 1.0 intergenic rs116465927 ZNF605 AU Uncertain 12_133634450_A->C 12 133634450 133634450 A C snp 2167.77 1/1 99 70 0 70 1.0 intergenic rs115172135 ZNF605 AU Uncertain 12_133635613_T->C 12 133635613 133635613 T C snp 182.9 1/1 15 5 0 5 1.0 intergenic rs114972238 ZNF605 AU Uncertain 12_133639605_T->G 12 133639605 133639605 T G snp 1805.77 1/1 99 53 0 53 1.0 intergenic rs115163671 ZNF605 AU Uncertain 12_133660718_A->G 12 133660718 133660718 A G snp 1205.77 1/1 87 48 0 48 1.0 intronic rs115155449 ZNF140 AU NM_003440 exon4 c.2241+571A>G 0.3 T 0.0 P -0.934 T Uncertain 12_133683020_C->T 12 133683020 133683020 C T snp 1773.77 0/1 99 121 57 64 0.53 exonic rs2229373 ZNF140 AU nonsynonymous SNV NM_001300776 exon4 c.C848T p.A283V 0.0734824 0.3353 0.002460 0.0349 0.3778 0.05 T 0.000 P -0.903 T 0.653 T 0.051 P Pathogenic 12_133761269_C->T 12 133761269 133761269 C T snp 120.77 0/1 99 14 7 7 0.5 intronic rs117228101 ZNF268 AU NM_001165885 exon2 c.33+2653C>T 0.00339457 0.0149 0.0004 0.0152 Uncertain 12_133787329_A->G 12 133787329 133787329 A G snp 2019.77 1/1 99 73 0 73 1.0 intergenic rs138369699 ZNF268 AU 0.703874 0.8889 0.7360 0.9141 Uncertain 12_133795418_C->G 12 133795418 133795418 C G snp 5106.77 1/1 99 185 0 185 1.0 UTR3 rs142613020 ANHX AU 0.677516 0.8889 Uncertain 12_133795885_G->A 12 133795885 133795885 G A snp 1365.77 1/1 99 44 0 44 1.0 exonic rs144454089 ANHX AU nonsynonymous SNV NM_001191054 exon8 c.C1037T p.A346V 0.483427 0.7609 0.4570 0.7475 0.0 P -1.029 T 0.137 T 0.021 T Pathogenic 12_133795960_A->G 12 133795960 133795960 A G snp 2468.77 1/1 99 96 0 96 1.0 intronic rs36140725 ANHX AU NM_001191054 exon2 c.483+7A>G 0.592851 0.7788 0.5333 0.7819 Uncertain 12_133796033_C->T 12 133796033 133796033 C T snp 2271.77 1/1 99 83 0 83 1.0 intronic rs36130280 ANHX AU NM_001191054 exon2 c.483+80C>T 0.78095 0.8929 Uncertain 12_133796184_C->A 12 133796184 133796184 C A snp 96.28 1/1 9 4 1 3 0.75 intronic rs36142519 ANHX AU NM_001191054 exon2 c.483+231C>A 0.488019 0.6716 Uncertain 12_133797649_T->G 12 133797649 133797649 T G snp 1542.77 1/1 99 54 0 54 1.0 intronic rs147515371 ANHX AU NM_001191054 exon3 c.2320-141T>G 0.812101 0.8909 Uncertain 13_19600475_C->A 13 19600475 19600475 C A snp 1189.77 0/1 99 95 44 51 0.54 intergenic rs9511168 LINC00442 AU 0.684904 0.8185 -0.991 T Uncertain 13_19600529_G->A 13 19600529 19600529 G A snp 733.77 0/1 99 91 55 36 0.4 intergenic rs73425803 LINC00442 AU 0.053115 0.1052 Uncertain 13_19601130_A->- 13 19601130 19601130 A - indel 3031.73 1/1 99 104 0 104 1.0 intergenic rs35887366 LINC00442 AU 0.737819 0.9236 Uncertain 13_19601182_C->T 13 19601182 19601182 C T snp 631.77 0/1 99 41 16 25 0.61 intergenic rs2039524 LINC00442 AU 0.684704 0.8185 Uncertain 13_19606506_C->T 13 19606506 19606506 C T snp 99.28 1/1 9 4 0 4 1.0 intergenic rs12865916 LINC00442 AU 0.526957 0.5923 Uncertain 13_19606632_C->T 13 19606632 19606632 C T snp 123.77 0/1 99 20 13 7 0.35 intergenic rs141216799 LINC00442 AU 0.00219649 0.0109 Uncertain 13_19751544_C->T 13 19751544 19751544 C T snp 624.77 0/1 99 62 36 26 0.42 exonic rs2297224 TUBA3C AU synonymous SNV NM_006001 exon4 c.G579A p.T193T 0.288738 0.3671 0.228657 0.2722 0.3749 Uncertain 13_19752625_A->G 13 19752625 19752625 A G snp 287.77 0/1 99 33 17 16 0.48 intronic rs605109 TUBA3C AU NM_006001 exon3 c.4532+91A>G 0.444688 0.4722 Uncertain 13_19753438_C->T 13 19753438 19753438 C T snp 268.77 0/1 99 27 17 10 0.37 intronic rs491873 TUBA3C AU NM_006001 exon4 c.5478-42C>T 0.426518 0.4702 0.483392 0.5407 0.4783 Uncertain 13_19756026_C->G 13 19756026 19756026 C G snp 434.77 1/1 33 12 0 12 1.0 upstream rs783595 LOC101928697 AU 0.966254 1 Uncertain 13_19756073_T->C 13 19756073 19756073 T C snp 93.28 1/1 9 3 0 3 1.0 upstream rs2150224 LOC101928697 AU 0.288938 0.3681 Uncertain 13_19756075_G->C 13 19756075 19756075 G C snp 54.74 1/1 6 2 0 2 1.0 upstream rs2150223 LOC101928697 AU 0.273163 0.37 Uncertain 13_19775653_A->- 13 19775653 19775653 A - indel 162.74 0/1 0 9 1 8 0.89 intergenic rs66950030 LOC101928697 AU Uncertain 13_19775755_A->G 13 19775755 19775755 A G snp 1701.77 1/1 87 90 1 89 0.99 intergenic rs61946463 LOC101928697 AU 0.780751 0.9861 Uncertain 13_19775867_G->A 13 19775867 19775867 G A snp 1049.77 1/1 84 54 1 53 0.98 intergenic rs114445450 LOC101928697 AU Uncertain 13_19775875_T->C 13 19775875 19775875 T C snp 968.77 1/1 78 47 0 47 1.0 intergenic rs138429293 LOC101928697 AU 0.704473 0.8978 Uncertain 13_19778557_T->C 13 19778557 19778557 T C snp 1745.79 0/1 23 88 8 80 0.91 intergenic rs61946465 LOC101928697 AU Uncertain 13_19778601_G->A 13 19778601 19778601 G A snp 72.77 0/1 99 122 110 12 0.1 intergenic rs141790008 LOC101928697 AU Uncertain 13_19778703_A->T 13 19778703 19778703 A T snp 943.77 0/1 99 51 14 37 0.73 intergenic LOC101928697 AU Uncertain 13_19778705_C->A 13 19778705 19778705 C A snp 886.77 0/1 99 48 14 34 0.71 intergenic LOC101928697 AU Uncertain 13_19782646_G->A 13 19782646 19782646 G A snp 3753.77 1/1 99 155 6 149 0.96 intergenic rs9512066 LOC101928697 AU 0.697484 0.881 Uncertain 13_19801420_C->T 13 19801420 19801420 C T snp 1620.77 0/1 99 154 85 69 0.45 intergenic rs9551255 LOC101928697 AU 0.25 0.3065 Uncertain 13_19801620_C->T 13 19801620 19801620 C T snp 933.77 1/1 69 29 0 29 1.0 intergenic rs9507693 LOC101928697 AU 0.693091 0.881 Uncertain 13_19933372_G->A 13 19933372 19933372 G A snp 1859.77 1/1 99 66 0 66 1.0 intergenic rs4771142 LINC00421 AU 0.52496 0.7063 Uncertain 13_19941233_C->A 13 19941233 19941233 C A snp 1868.77 1/1 99 75 0 75 1.0 intergenic rs3002090 LINC00421 AU 0.941494 1 Uncertain 13_19943926_G->A 13 19943926 19943926 G A snp 168.9 1/1 15 5 0 5 1.0 intergenic rs7987428 LINC00421 AU 0.865016 0.8958 Uncertain 13_19949096_A->G 13 19949096 19949096 A G snp 79.28 1/1 9 7 0 7 1.0 intergenic rs75484372 LINC00421 AU 0.427716 0.5714 Uncertain 13_19949097_T->A 13 19949097 19949097 T A snp 82.28 1/1 9 7 0 7 1.0 intergenic rs77384480 LINC00421 AU 0.427716 0.5714 Uncertain 13_19949112_C->- 13 19949112 19949112 C - indel 209.8 1/1 18 6 0 6 1.0 intergenic rs71197092 LINC00421 AU 0.36901 0.5089 Uncertain 13_19949155_T->G 13 19949155 19949155 T G snp 614.77 1/1 45 27 0 27 1.0 intergenic rs34247662 LINC00421 AU 0.604832 0.7093 Uncertain 13_19949218_C->T 13 19949218 19949218 C T snp 1036.77 1/1 75 43 0 43 1.0 intergenic rs35633897 LINC00421 AU 0.605032 0.7093 Uncertain 13_19949227_C->T 13 19949227 19949227 C T snp 1070.77 1/1 78 44 0 44 1.0 intergenic rs34936230 LINC00421 AU 0.605032 0.7093 Uncertain 13_19949262_G->A 13 19949262 19949262 G A snp 1091.77 1/1 81 44 0 44 1.0 intergenic rs34280326 LINC00421 AU 0.605032 0.7093 Uncertain 13_19949287_G->T 13 19949287 19949287 G T snp 846.77 1/1 63 34 0 34 1.0 intergenic rs34088473 LINC00421 AU 0.605032 0.7093 Uncertain 13_19962055_G->A 13 19962055 19962055 G A snp 1522.77 1/1 99 60 0 60 1.0 intergenic rs71306166 LINC00421 AU 0.624401 0.7976 Uncertain 13_19962162_A->G 13 19962162 19962162 A G snp 93.28 1/1 9 3 0 3 1.0 intergenic rs2785550 LINC00421 AU 0.628994 0.7976 Uncertain 13_20000469_C->A 13 20000469 20000469 C A snp 156.77 0/1 99 80 69 11 0.14 intronic rs540742628 TPTE2 AU NM_001141968 exon3 c.3363-95C>A 0.0031 0.0015 Uncertain 13_20000506_G->T 13 20000506 20000506 G T snp 606.77 0/1 99 150 112 38 0.25 intronic rs111490861 TPTE2 AU NM_001141968 exon3 c.3363-58G>T 0.0417332 0.0139 Uncertain 13_20000508_A->C 13 20000508 20000508 A C snp 603.77 0/1 99 151 112 39 0.26 intronic rs528536174 TPTE2 AU NM_001141968 exon3 c.3363-56A>C 0.0227636 0.0129 Uncertain 13_20000511_A->T 13 20000511 20000511 A T snp 395.77 0/1 99 155 117 38 0.25 intronic rs202193643 TPTE2 AU NM_001141968 exon3 c.3363-53A>T Uncertain 13_20000613_A->G 13 20000613 20000613 A G snp 257.77 0/1 99 228 202 26 0.11 exonic rs76654056 TPTE2 AU synonymous SNV NM_001271850 exon5 c.T360C p.Y120Y 0.0137 0.0258 Uncertain 13_20000614_T->A 13 20000614 20000614 T A snp 235.77 0/1 99 225 200 25 0.11 exonic rs77380319 TPTE2 AU nonsynonymous SNV NM_001271850 exon5 c.A359T p.Y120F 0.0137 0.0256 1 N -0.917 T 0.0 T 0.0 T Pathogenic 13_20000621_T->C 13 20000621 20000621 T C snp 165.77 0/1 99 215 195 20 0.09 exonic rs528635259 TPTE2 AU nonsynonymous SNV NM_001271850 exon5 c.A352G p.N118D 4.129e-05 0 1 N -1.000 T 0.0 T 0.001 T Pathogenic 13_20000630_T->C 13 20000630 20000630 T C snp 4755.77 0/1 86 208 16 192 0.92 exonic rs2497218 TPTE2 AU nonsynonymous SNV NM_001271850 exon5 c.A343G p.I115V 0.930112 1 0.930363 0.9802 0.9998 0.0 P -0.989 T 0.0 T 0.002 T Pathogenic 13_20000702_G->C 13 20000702 20000702 G C snp 2395.77 1/1 99 77 0 77 1.0 intronic rs4408395 TPTE2 AU NM_001141968 exon3 c.3456+45G>C 0.848842 0.995 0.9186 0.9855 Uncertain 13_20004762_T->C 13 20004762 20004762 T C snp 2944.77 1/1 99 102 0 102 1.0 intronic rs7139692 TPTE2 AU NM_001141968 exon4 c.7486+75T>C 0.610024 0.8889 Uncertain 13_20004798_C->T 13 20004798 20004798 C T snp 1505.77 1/1 99 48 0 48 1.0 intronic rs2497068 TPTE2 AU NM_001141968 exon4 c.7486+111C>T 0.996206 1 Uncertain 13_20038584_A->G 13 20038584 20038584 A G snp 4318.77 1/1 99 169 0 169 1.0 intronic rs7339103 TPTE2 AU NM_001141968 exon11 c.41394-11A>G 0.713259 0.9554 0.705045 0.8123 0.9639 Uncertain 13_20039289_A->T 13 20039289 20039289 A T snp 3052.77 1/1 99 98 0 98 1.0 intronic rs2497079 TPTE2 AU NM_001141968 exon12 c.42193-105A>T 0.980631 1 Uncertain 13_20041323_G->T 13 20041323 20041323 G T snp 90.28 1/1 9 3 0 3 1.0 intronic rs2497251 TPTE2 AU NM_199254 exon14 c.44163-41G>T 0.922524 1 0.893261 0.9545 0.9998 Uncertain 13_20041494_A->- 13 20041494 20041494 A - indel 99.74 0/1 25 22 4 18 0.82 intronic rs71092363 TPTE2 AU NM_199254 exon14 c.44283+10delA 0.552117 0.5784 0.3711 0.3404 Uncertain 13_20041563_C->T 13 20041563 20041563 C T snp 303.78 1/1 24 8 0 8 1.0 intronic rs2492391 TPTE2 AU NM_199254 exon14 c.44283+79C>T 0.982029 1 Uncertain 13_20066938_C->T 13 20066938 20066938 C T snp 31.77 0/1 60 51 40 11 0.22 intronic rs74652874 TPTE2 AU NM_001141968 exon15 c.69788-51C>T Uncertain 13_20066994_T->C 13 20066994 20066994 T C snp 406.77 0/1 99 97 61 36 0.37 exonic rs78472618 TPTE2 AU nonsynonymous SNV NM_130785 exon4 c.A115G p.K39E 0.0006 0.0010 1 N -0.470 T 0.0 T 0.0 T Pathogenic 13_20067011_A->C 13 20067011 20067011 A C snp 428.77 0/1 99 104 65 39 0.38 exonic rs76437836 TPTE2 AU nonsynonymous SNV NM_130785 exon4 c.T98G p.L33R 0.0357 0.0631 1 N -0.537 T 0.0 T 0.001 T Pathogenic 13_20067081_A->G 13 20067081 20067081 A G snp 525.77 0/1 99 77 38 39 0.51 intronic rs76668072 TPTE2 AU NM_001141968 exon15 c.69842+38A>G 0.2714 0.3817 Uncertain 13_20067140_T->G 13 20067140 20067140 T G snp 139.77 0/1 99 25 16 9 0.36 intronic rs76824079 TPTE2 AU NM_001141968 exon15 c.69842+97T>G Uncertain 13_20067145_T->C 13 20067145 20067145 T C snp 142.77 0/1 99 21 12 9 0.43 intronic rs112509877 TPTE2 AU NM_001141968 exon15 c.69842+102T>C Uncertain 13_20067148_G->A 13 20067148 20067148 G A snp 148.77 0/1 99 19 10 9 0.47 intronic rs77396540 TPTE2 AU NM_001141968 exon15 c.69842+105G>A Uncertain 13_20233873_A->G 13 20233873 20233873 A G snp 3088.77 0/1 99 250 134 116 0.46 intronic rs17837191 MPHOSPH8 AU NM_017520 exon7 c.25541+444A>G 0.00758786 0.0367 Uncertain 13_20240743_T->C 13 20240743 20240743 T C snp 453.77 0/1 99 36 21 15 0.42 intronic rs9508812 MPHOSPH8 AU NM_017520 exon10 c.32831+24T>C 0.699281 0.876 0.665155 0.7734 0.8989 Uncertain 13_20244612_C->T 13 20244612 20244612 C T snp 77.77 0/1 99 7 4 3 0.43 intronic rs2125545 MPHOSPH8 AU NM_017520 exon12 c.36615+109C>T 0.6873 0.876 Uncertain 13_20247171_A->G 13 20247171 20247171 A G snp 742.77 1/1 60 24 1 23 0.96 UTR3 rs4769866 MPHOSPH8 AU 0.958267 1 0.9982 1 Uncertain 13_20247227_G->- 13 20247227 20247227 G - indel 1723.73 0/1 99 89 37 52 0.58 UTR3 rs10706287 MPHOSPH8 AU 0.635383 0.871 0.6451 0.7623 Uncertain 13_20247239_TT->- 13 20247239 20247240 TT - indel 969.73 0/1 99 96 55 41 0.43 UTR3 rs10531847 MPHOSPH8 AU 0.6437 0.7667 Uncertain 13_20251791_T->C 13 20251791 20251791 T C snp 881.77 0/1 99 62 27 35 0.56 intergenic rs2290810 MPHOSPH8 AU 0.673522 0.872 Uncertain 13_20252093_G->A 13 20252093 20252093 G A snp 168.9 1/1 15 5 0 5 1.0 intergenic rs9508836 MPHOSPH8 AU 0.667332 0.872 Uncertain 13_20277413_T->C 13 20277413 20277413 T C snp 2216.77 0/1 99 250 129 121 0.48 exonic rs3852596 PSPC1 AU nonsynonymous SNV NM_001042414 exon10 c.A1474G p.M492V 0.4797 0.5 0.43 T 0.812 N -0.964 T 0.012 T 0.007 T Pathogenic 13_20283583_T->C 13 20283583 20283583 T C snp 171.77 0/1 99 44 26 18 0.41 intronic PSPC1 AU NM_001042414 exon3 c.6367-98T>C Uncertain 13_20325625_C->G 13 20325625 20325625 C G snp 1372.77 0/1 99 120 59 61 0.51 intronic rs2340650 PSPC1 AU NM_001042414 exon6 c.48293+18C>G 0.636382 0.875 0.618991 0.7449 0.9005 Uncertain 13_20325712_G->A 13 20325712 20325712 G A snp 259.77 0/1 99 13 5 8 0.62 intronic rs4040527 PSPC1 AU NM_001042414 exon6 c.48293+105G>A 0.640974 0.875 Uncertain 13_20356941_T->A 13 20356941 20356941 T A snp 256.77 0/1 99 31 19 12 0.39 intronic rs9508887 PSPC1 AU NM_001042414 exon9 c.79617+10T>A 0.67492 0.874 0.700591 0.7691 0.9007 Uncertain 13_20356998_A->G 13 20356998 20356998 A G snp 192.77 0/1 65 12 4 8 0.67 intronic rs17086752 PSPC1 AU NM_001042414 exon10 c.79742-58A>G 0.0816693 0.0804 Uncertain 13_20398669_T->C 13 20398669 20398669 T C snp 3032.77 1/1 99 107 0 107 1.0 exonic rs9508907 ZMYM5 AU nonsynonymous SNV NM_001142684 exon8 c.A1958G p.H653R 0.798522 0.9554 0.785437 0.8650 0.9663 0.61 T 0.0 P -0.998 T 0.139 T 0.026 T Pathogenic 13_20398742_C->T 13 20398742 20398742 C T snp 3894.77 1/1 99 141 0 141 1.0 exonic rs9508908 ZMYM5 AU nonsynonymous SNV NM_001142684 exon8 c.G1885A p.V629I 0.797923 0.9554 0.788207 0.8572 0.9716 0.78 T 0.0 P -1.027 T 0.0 T 0.0 T Pathogenic 13_20411701_C->T 13 20411701 20411701 C T snp 457.77 0/1 99 40 17 23 0.57 intronic rs7988277 ZMYM5 AU NM_001142684 exon3 c.13179-94C>T 0.117212 0.0813 0.114964 0.0897 0.0701 0 D 0.0 P -1.012 T 0.0 T 0.0 T Uncertain 13_20413021_T->C 13 20413021 20413021 T C snp 2567.77 0/1 99 240 132 108 0.45 exonic rs41292167 ZMYM5 AU nonsynonymous SNV NM_001142684 exon5 c.A691G p.T231A 0.0972444 0.0813 0.099416 0.0787 0.0700 0.14 T 0.001 P -1.076 T 0.048 T 0.014 T Pathogenic 13_20413151_C->A 13 20413151 20413151 C A snp 189.77 0/1 99 24 16 8 0.33 intronic rs61563111 ZMYM5 AU NM_001142684 exon4 c.14509+26C>A 0.0972444 0.0813 0.098554 0.0790 0.0705 Uncertain 13_20425430_TTT->- 13 20425430 20425432 TTT - indel 1581.73 0/1 99 72 43 29 0.4 intronic rs60968061 ZMYM5 AU NM_001142684 exon5 c.26878-64_26878-62delTTT 0.096845 0.0813 Uncertain 13_20425911_C->A 13 20425911 20425911 C A snp 3124.77 0/1 99 250 117 133 0.53 exonic rs9579717 ZMYM5 AU nonsynonymous SNV NM_001142684 exon3 c.G410T p.C137F 0.096845 0.0813 0.099031 0.0791 0.0701 0.06 T 0.000 P -1.011 T 0.113 T 0.092 T Pathogenic 13_20425948_T->C 13 20425948 20425948 T C snp 2996.77 0/1 99 244 120 124 0.51 exonic rs9579718 ZMYM5 AU nonsynonymous SNV NM_001142684 exon3 c.A373G p.I125V 0.0980431 0.0813 0.099877 0.0789 0.0701 0.15 T 0.000 P -1.041 T 0.047 T 0.02 T Pathogenic 13_20568203_T->A 13 20568203 20568203 T A snp 129.03 1/1 12 4 0 4 1.0 intronic rs7332715 ZMYM2 AU NM_001190965 exon3 c.847+144T>A 0.983227 1 Uncertain 13_20605386_A->C 13 20605386 20605386 A C snp 687.77 0/1 99 57 32 25 0.44 intronic rs17075256 ZMYM2 AU NM_001190965 exon10 c.38246-72A>C 0.160343 0.0218 Uncertain 13_20605603_T->C 13 20605603 20605603 T C snp 978.77 0/1 99 78 38 40 0.51 intronic rs9509009 ZMYM2 AU NM_001190965 exon10 c.38363+28T>C 0.0443291 0.1121 0.021488 0.0445 0.1482 Uncertain 13_20608354_-->TTTCTTGAGGTG 13 20608354 20608354 - TTTCTTGAGGTG indel 8297.73 1/1 99 54 0 54 1.0 intronic rs11272380 ZMYM2 AU NM_001190965 exon11 c.41181-39insTTTCTTGAGGTG 0.96266 0.998 0.9868 0.9999 Uncertain 13_20632571_T->C 13 20632571 20632571 T C snp 90.28 1/1 9 3 0 3 1.0 intronic rs6490511 ZMYM2 AU NM_001190965 exon15 c.65502-143T>C 0.964457 1 Uncertain 13_20638491_A->G 13 20638491 20638491 A G snp 40.77 0/1 69 8 5 3 0.38 intronic rs2273993 ZMYM2 AU NM_001190965 exon19 c.71378-99A>G 0.159345 0.0228 Uncertain 13_20656139_T->- 13 20656139 20656139 T - indel 106.8 1/1 18 7 0 7 1.0 intronic rs11344087 ZMYM2 AU NM_001190965 exon22 c.88943-16delT 0.732029 0.875 0.6753 0.7176 Uncertain 13_20716073_T->C 13 20716073 20716073 T C snp 1172.77 0/1 99 91 42 49 0.54 UTR3 rs75630774 GJA3 AD 0.00519169 0.0179 0.0009 0.0116 Uncertain 13_20716533_G->T 13 20716533 20716533 G T snp 3915.77 1/1 99 141 0 141 1.0 exonic rs968566 GJA3 AD nonsynonymous SNV NM_021954 exon2 c.C895A p.L299M 0.964856 1 0.968394 0.9868 1 0.38 T 0.0 P -0.965 T 0.008 T 0.002 T Pathogenic 13_20762956_A->G 13 20762956 20762956 A G snp 1013.77 0/1 99 72 33 39 0.54 UTR3 rs3751385 GJB2 AO,AD,AR 0.686701 0.5982 CLINSIG=non-pathogenic;CLNDBN=Deafness\x2c_autosomal_recessive_1A;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000029940.1;CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet;CLNDSDBID=NBK1272:C2673759:220290:ORPHA90636 Uncertain 13_20763380_T->C 13 20763380 20763380 T C snp 2227.77 0/1 99 187 95 92 0.49 exonic rs2274083 GJB2 AO,AD,AR nonsynonymous SNV NM_004004 exon2 c.A341G p.E114G 0.0309505 0.1498 0.000615 0.0146 0.1879 0.16 T 0.000 P -0.829 T 0.001 T 0.001 T CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000154452.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 ID=CM013722;DIS=Deafness;TAG=DFP;PUB=10983956 DFP Pathogenic 13_20763642_C->T 13 20763642 20763642 C T snp 1010.77 0/1 99 100 56 44 0.44 exonic rs2274084 GJB2 AO,AD,AR nonsynonymous SNV NM_004004 exon2 c.G79A p.V27I 0.071885 0.256 0.002537 0.0454 0.2917 0.21 T 1.000 P -1.793 T 1.0 D 0.998 D CLINSIG=probable-non-pathogenic|probable-non-pathogenic;CLNDBN=Deafness\x2c_autosomal_recessive_1A|not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter|criteria_provided\x2c_single_submitter;CLNACC=RCV000029942.1|RCV000154452.1;CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet|MedGen;CLNDSDBID=NBK1272:C2673759:220290:ORPHA90636|CN169374 ID=COSM1740036;OCCURENCE=1(haematopoietic_and_lymphoid_tissue) ID=CM013720;DIS=Deafness;TAG=DP;PUB=11493200 DP Pathogenic 13_20978615_G->A 13 20978615 20978615 G A snp 54.74 1/1 6 2 0 2 1.0 intronic rs3737037 CRYL1 AU NM_015974 exon2 c.506-158G>A 0.208666 0.3333 Uncertain 13_21006475_T->C 13 21006475 21006475 T C snp 2480.77 1/1 99 85 0 85 1.0 intronic rs7983215 CRYL1 AU NM_015974 exon4 c.28168+40T>C 0.982228 1 0.990223 0.9965 0.9999 Uncertain 13_21013670_-->A 13 21013670 21013670 - A indel 392.73 1/1 58 23 1 22 0.96 intronic rs529716473 CRYL1 AU NM_015974 exon5 c.35464-61insA 0.0129792 0.0278 Uncertain 13_21013995_A->C 13 21013995 21013995 A C snp 96.28 1/1 9 3 0 3 1.0 intronic rs9552182 CRYL1 AU NM_015974 exon5 c.35626+102A>C 0.278155 0.4306 Uncertain 13_21063524_A->G 13 21063524 21063524 A G snp 1007.77 0/1 99 97 52 45 0.46 exonic rs14236 CRYL1 AU synonymous SNV NM_015974 exon3 c.T261C p.G87G 0.270367 0.1389 0.290224 0.2292 0.1343 Uncertain 13_21086558_T->C 13 21086558 21086558 T C snp 432.77 0/1 99 25 7 18 0.72 intronic rs7987204 CRYL1 AU NM_015974 exon7 c.108314-23T>C 0.322284 0.38 0.221417 0.1739 0.3968 Uncertain 13_21099828_A->C 13 21099828 21099828 A C snp 709.77 0/1 99 72 37 35 0.49 intronic rs9315667 CRYL1 AU NM_015974 exon8 c.121625-64A>C 0.29992 0.4058 Uncertain 13_21100118_G->C 13 21100118 21100118 G C snp 50.74 1/1 6 2 0 2 1.0 upstream rs10459365 CRYL1 AU 0.300319 0.4048 Uncertain 13_21156999_G->A 13 21156999 21156999 G A snp 1918.77 1/1 99 57 0 57 1.0 intronic rs9509289 IFT88 AU NM_006531 exon3 c.8571-96G>A 0.814097 0.994 Uncertain 13_21157258_A->- 13 21157258 21157258 A - indel 498.73 1/1 36 14 0 14 1.0 intronic rs35700311 IFT88 AU NM_006531 exon3 c.8634+100delA 0.752796 0.994 Uncertain 13_21166356_A->G 13 21166356 21166356 A G snp 337.77 0/1 99 18 6 12 0.67 intronic IFT88 AU NM_006531 exon7 c.17949-117A>G Uncertain 13_21205125_G->- 13 21205125 21205125 G - indel 5265.73 1/1 99 129 0 129 1.0 intronic rs35290473 IFT88 AU NM_006531 exon16 c.56630-29delG 0.764776 0.994 0.657109 0.7597 0.9966 Uncertain 13_21205140_A->T 13 21205140 21205140 A T snp 3023.77 1/1 99 125 0 125 1.0 intronic rs1329519 IFT88 AU NM_006531 exon16 c.56630-14A>T 0.764776 0.994 0.658235 0.7602 0.9971 Uncertain 13_21205192_G->A 13 21205192 21205192 G A snp 2531.77 1/1 99 86 0 86 1.0 exonic rs9509307 IFT88 AU nonsynonymous SNV NM_006531 exon16 c.G1337A p.S446N 0.764776 0.994 0.658235 0.7600 0.9970 0.25 T 1.000 P -1.041 T 0.546 P 0.259 P Pathogenic 13_21311695_G->A 13 21311695 21311695 G A snp 473.77 1/1 36 12 0 12 1.0 intronic rs9552265 N6AMT2 AU NM_174928 exon3 c.8643-166G>A 0.454273 0.7768 Uncertain 13_21331779_T->A 13 21331779 21331779 T A snp 2490.77 1/1 99 85 0 85 1.0 intronic rs3924006 N6AMT2 AU NM_174928 exon4 c.28538+23T>A 0.388179 0.7698 0.164078 0.2977 0.7624 Uncertain 13_21361513_T->C 13 21361513 21361513 T C snp 1777.77 1/1 99 52 0 52 1.0 intronic rs4146442 XPO4 AU NM_022459 exon3 c.3759-106T>C 0.807907 0.999 Uncertain 13_21370398_-->A 13 21370398 21370398 - A indel 114.73 0/1 99 30 10 20 0.67 splicing rs34352023 XPO4 AU NM_022459 exon6 c.12535+3insA 0.1088 0.0316 Pathogenic 13_21416945_G->A 13 21416945 21416945 G A snp 1018.77 1/1 75 30 0 30 1.0 intronic rs2762995 XPO4 AU NM_022459 exon18 c.59173-88G>A 0.991014 1 Uncertain 13_21418094_T->G 13 21418094 21418094 T G snp 1479.77 1/1 99 53 0 53 1.0 intronic rs716480 XPO4 AU NM_022459 exon19 c.60165+69T>G 0.455272 0.8105 Uncertain 13_21476997_A->G 13 21476997 21476997 A G snp 675.77 1/1 51 22 0 22 1.0 upstream rs7326480 XPO4 AU 0.865815 1 Uncertain 13_21549264_G->A 13 21549264 21549264 G A snp 2232.77 0/1 99 229 133 96 0.42 exonic rs3742220 LATS2 AU synonymous SNV NM_014572 exon8 c.C3012T p.P1004P 0.00159744 0.003 0.002460 0.0032 0.0029 Uncertain 13_21553971_C->T 13 21553971 21553971 C T snp 3553.77 1/1 99 130 0 130 1.0 intronic rs2275234 LATS2 AU NM_014572 exon2 c.4928+35C>T 0.188299 0.4871 0.044755 0.1234 0.5126 Uncertain 13_21562832_C->T 13 21562832 21562832 C T snp 4347.77 1/1 99 158 0 158 1.0 exonic rs2770928 LATS2 AU nonsynonymous SNV NM_014572 exon4 c.G1087A p.G363S 0.85024 0.997 0.832650 0.8729 0.9995 1 T 0.0 P -0.913 T 0.002 T 0.003 T Pathogenic 13_21620085_T->C 13 21620085 21620085 T C snp 4888.77 1/1 99 182 0 182 1.0 exonic rs7317471 LATS2 AU synonymous SNV NM_014572 exon2 c.A81G p.K27K 0.807508 0.8839 0.780563 0.8496 0.8897 Uncertain 13_21620222_-->A 13 21620222 21620222 - A indel 521.73 1/1 63 28 0 28 1.0 UTR5 rs112886172 LATS2 AU 0.214457 0.4038 Uncertain 13_21729064_A->G 13 21729064 21729064 A G snp 648.77 0/1 99 28 9 19 0.68 UTR3 rs9552370 SKA3 AU 0.686102 0.7063 Uncertain 13_21729252_T->C 13 21729252 21729252 T C snp 1141.77 0/1 99 168 119 49 0.29 exonic rs11147976 SKA3 AU nonsynonymous SNV NM_001166017 exon8 c.A1157G p.K386R 0.1539 0.2161 1 T 1 N -0.982 T 0.0 T 0.0 T Pathogenic 13_21729267_G->A 13 21729267 21729267 G A snp 1051.77 0/1 99 152 106 46 0.3 exonic rs11147977 SKA3 AU nonsynonymous SNV NM_001166017 exon8 c.C1142T p.T381I 0.1331 0.1871 0.15 T 1 N -0.998 T 0.0 T 0.0 T Pathogenic 13_21729952_-->A 13 21729952 21729952 - A indel 765.73 1/1 45 95 3 92 0.97 splicing rs11446085 SKA3 AU NM_145061 exon2 c.662+2insA 0.289137 0.2579 ID=COSM308642;OCCURENCE=1(lung) Pathogenic 13_21732094_C->T 13 21732094 21732094 C T snp 4025.77 1/1 99 139 0 139 1.0 exonic rs4770121 SKA3 AU synonymous SNV NM_001166017 exon7 c.G1086A p.P362P 0.923722 1 0.905183 0.9502 0.9995 Uncertain 13_21736133_C->T 13 21736133 21736133 C T snp 690.77 1/1 51 20 0 20 1.0 intronic rs4561294 SKA3 AU NM_001166017 exon4 c.6773+119C>T 0.910543 0.999 Uncertain 13_21742311_C->T 13 21742311 21742311 C T snp 2536.77 0/1 99 235 135 100 0.43 exonic rs61950353 SKA3 AU nonsynonymous SNV NM_001166017 exon4 c.G559A p.V187I 0.091035 0.1443 0.2287 0.31 T 1 N -1.038 T 0.06 T 0.003 T Pathogenic 13_21746285_T->C 13 21746285 21746285 T C snp 96.28 1/1 9 3 0 3 1.0 intronic rs7323930 SKA3 AU NM_001166017 exon6 c.17236-192T>C 0.915136 1 Uncertain 13_21746453_T->C 13 21746453 21746453 T C snp 1740.77 1/1 99 71 0 71 1.0 intronic rs2026600 SKA3 AU NM_001166017 exon6 c.17236-24T>C 0.914936 0.999 0.895515 0.9462 0.9988 Uncertain 13_21746601_G->- 13 21746601 21746601 G - indel 1234.73 0/1 99 106 71 35 0.33 exonic rs151272242 SKA3 AU frameshift deletion NM_001166017 exon3 c.208delC p.Q70fs 0.138978 0.2391 0.087754 0.1499 0.2323 ID=COSM432211,COSM1317935;OCCURENCE=1(breast),1(haematopoietic_and_lymphoid_tissue) Pathogenic 13_21750538_G->A 13 21750538 21750538 G A snp 369.77 0/1 99 85 63 22 0.26 exonic rs61950356 SKA3 AU stopgain NM_001166017 exon1 c.C79T p.R27X 0.070912 0.3187 0.3862 1 T 1 A Pathogenic 13_21751005_G->C 13 21751005 21751005 G C snp 1818.77 1/1 99 57 0 57 1.0 intronic rs9550717 MRPL57 AU 0.836861 0.9861 0.834622 0.8833 0.9885 Uncertain 13_21951016_A->G 13 21951016 21951016 A G snp 141.03 1/1 12 4 0 4 1.0 ncRNA_intronic rs9509669 MIPEPP3 AU 0.917532 1 Uncertain 13_22067681_T->C 13 22067681 22067681 T C snp 343.78 1/1 27 9 0 9 1.0 intronic rs3818314 MICU2 AU NM_152726 exon1 c.105+189T>C 0.413139 0.6607 Uncertain 13_22076930_G->C 13 22076930 22076930 G C snp 96.28 1/1 9 3 0 3 1.0 intronic rs3843680 MICU2 AU NM_152726 exon4 c.9677-134G>C 0.359625 0.6617 Uncertain 13_22083998_A->C 13 22083998 22083998 A C snp 93.28 1/1 9 3 0 3 1.0 intronic rs3814795 MICU2 AU NM_152726 exon5 c.16755-144A>C 0.448882 0.6954 Uncertain 13_22089949_G->A 13 22089949 22089949 G A snp 135.03 1/1 12 4 0 4 1.0 intronic rs1200052 MICU2 AU NM_152726 exon6 c.21170+1392G>A 0.898363 1 Uncertain 13_22096843_T->C 13 22096843 22096843 T C snp 702.77 1/1 51 23 0 23 1.0 intronic rs1200028 MICU2 AU NM_152726 exon8 c.29402+54T>C 0.97484 1 0.974342 Uncertain 13_22178307_G->C 13 22178307 22178307 G C snp 114.77 0/1 99 9 5 4 0.44 UTR5 rs2248433 MICU2 AU 0.336661 0.6865 0.056788 0.3096 0.6076 Uncertain 13_22178308_G->A 13 22178308 22178308 G A snp 295.78 1/1 24 9 0 9 1.0 UTR5 rs2761924 MICU2 AU 0.995208 0.998 0.997075 0.9948 1 Uncertain 13_22275394_A->G 13 22275394 22275394 A G snp 6071.77 1/1 99 218 0 218 1.0 exonic rs9509841 FGF9 AU synonymous SNV NM_002010 exon3 c.A447G p.S149S 0.832468 0.9603 0.774027 0.8398 0.9645 Uncertain 13_22275583_G->A 13 22275583 22275583 G A snp 7305.77 1/1 99 249 0 249 1.0 UTR3 rs9509842 FGF9 AU 0.981829 1 0.980471 0.9948 0.9999 Uncertain 13_23249279_G->A 13 23249279 23249279 G A snp 68.77 0/1 97 9 6 3 0.33 intergenic rs9317134 LINC00540 AU 0.284944 0.6002 Uncertain 13_23251017_T->- 13 23251017 23251017 T - indel 739.73 1/1 60 22 0 22 1.0 intergenic rs35856253 LINC00540 AU 0.915735 0.7609 Uncertain 13_23253313_T->C 13 23253313 23253313 T C snp 3395.77 1/1 99 121 0 121 1.0 intergenic rs9506904 LINC00540 AU 0.915335 0.9296 Uncertain 13_23279254_G->A 13 23279254 23279254 G A snp 4689.77 1/1 99 170 0 170 1.0 intergenic rs314874 LINC00540 AU 0.588259 0.876 Uncertain 13_23279279_T->C 13 23279279 23279279 T C snp 5808.77 1/1 99 213 0 213 1.0 intergenic rs314873 LINC00540 AU 0.602636 0.876 Uncertain 13_23808623_-->TATT 13 23808623 23808623 - TATT indel 386.8 1/1 18 6 0 6 1.0 intronic rs143561165 SGCG AR NM_000231 exon3 c.30916-126insTATT Uncertain 13_23824783_T->G 13 23824783 23824783 T G snp 4037.77 1/1 99 154 0 154 1.0 exonic rs1800351 SGCG AR synonymous SNV NM_000231 exon4 c.T312G p.L104L 0.52476 0.7014 0.471167 0.4343 0.6887 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_multiple_submitters\x2c_no_conflicts;CLNACC=RCV000078404.4;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 13_23894744_T->G 13 23894744 23894744 T G snp 988.77 1/1 72 37 0 37 1.0 intronic rs1536725 SGCG AR NM_000231 exon7 c.116942-31T>G 0.352835 0.4276 0.292501 0.4828 0.5745 Uncertain 13_23894746_T->G 13 23894746 23894746 T G snp 1031.77 1/1 75 37 0 37 1.0 intronic rs1536726 SGCG AR NM_000231 exon7 c.116942-29T>G 0.358826 0.4286 0.275406 0.4680 0.5752 Uncertain 13_23894748_T->G 13 23894748 23894748 T G snp 1018.77 1/1 75 37 0 37 1.0 intronic rs1536727 SGCG AR NM_000231 exon7 c.116942-27T>G 0.38099 0.4286 0.297818 0.4629 0.5721 Uncertain 13_23894750_T->G 13 23894750 23894750 T G snp 1022.77 1/1 78 37 0 37 1.0 intronic rs1536728 SGCG AR NM_000231 exon7 c.116942-25T>G 0.381589 0.4286 0.4507 0.5564 Uncertain 13_23894752_T->G 13 23894752 23894752 T G snp 1086.77 1/1 81 40 0 40 1.0 intronic rs1536729 SGCG AR NM_000231 exon7 c.116942-23T>G 0.381989 0.4296 0.4444 0.5328 Uncertain 13_23898454_C->T 13 23898454 23898454 C T snp 1511.77 1/1 99 49 0 49 1.0 intronic rs9510700 SGCG AR NM_000231 exon8 c.120673-52C>T 0.799121 0.881 Uncertain 13_23898509_T->C 13 23898509 23898509 T C snp 2135.77 1/1 99 79 0 79 1.0 exonic rs1800353 SGCG AR synonymous SNV NM_000231 exon8 c.T705C p.L235L 0.629792 0.748 0.576196 0.6744 0.7690 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_multiple_submitters\x2c_no_conflicts;CLNACC=RCV000078407.4;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 13_23898664_A->G 13 23898664 23898664 A G snp 1142.77 1/1 84 38 0 38 1.0 exonic rs1800354 SGCG AR nonsynonymous SNV NM_000231 exon8 c.A860G p.N287S 0.877796 0.999 0.821083 0.8817 0.9992 1 T 0.000 P -0.928 T 0.0 T 0.0 T CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000153942.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 ID=CM1414776;DIS=Muscular dystrophy, limb girdle 2C;TAG=DM;PUB=24638197 DM Pathogenic 13_23907677_C->T 13 23907677 23907677 C T snp 4516.77 1/1 99 160 0 160 1.0 exonic rs2737701 SACS AR synonymous SNV NM_014363 exon10 c.G10338A p.Q3446Q 0.985423 1 0.984392 0.9957 1 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000118229.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 13_23908034_A->G 13 23908034 23908034 A G snp 5516.77 1/1 99 194 0 194 1.0 exonic rs2737700 SACS AR synonymous SNV NM_014363 exon10 c.T9981C p.A3327A 0.338658 0.4127 0.350177 0.4061 0.3995 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000118235.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 13_23911748_C->T 13 23911748 23911748 C T snp 4232.77 1/1 99 155 0 155 1.0 exonic rs9550956 SACS AR synonymous SNV NM_014363 exon10 c.G6267A p.S2089S 0.0842652 0.2639 0.000846 0.0330 0.2488 Uncertain 13_23913827_G->A 13 23913827 23913827 G A snp 5144.77 1/1 99 166 0 166 1.0 exonic rs61754477 SACS AR synonymous SNV NM_014363 exon10 c.C4188T p.H1396H 0.0832668 0.2639 0.000846 0.0327 0.2501 Uncertain 13_23985391_T->C 13 23985391 23985391 T C snp 4731.77 1/1 99 170 0 170 1.0 UTR5 rs17078720 SACS AR 0.311102 0.4841 0.276505 0.3242 0.4782 Uncertain 13_24164216_G->A 13 24164216 24164216 G A snp 150.77 0/1 99 10 5 5 0.5 intronic rs7333639 TNFRSF19 AU 0.27516 0.2421 Uncertain 13_24167392_G->A 13 24167392 24167392 G A snp 253.77 0/1 99 17 9 8 0.47 intronic rs79789272 TNFRSF19 AU NM_001204458 exon3 c.3161-91G>A 0.0231629 0.0655 Uncertain 13_24167505_T->A 13 24167505 24167505 T A snp 1453.77 0/1 99 138 69 69 0.5 exonic rs9550987 TNFRSF19 AU nonsynonymous SNV NM_001204458 exon3 c.T91A p.S31T 0.27516 0.2421 0.268030 0.2269 0.2599 1 T 1.000 P -0.937 T 0.0 T 0.0 T Pathogenic 13_24234369_G->T 13 24234369 24234369 G T snp 471.77 0/1 99 31 15 16 0.52 intronic rs3751366 TNFRSF19 AU NM_001204459 exon5 c.33621-134G>T 0.380391 0.2927 Uncertain 13_24234375_A->T 13 24234375 24234375 A T snp 427.77 0/1 99 31 15 16 0.52 intronic rs3751365 TNFRSF19 AU NM_001204459 exon5 c.33621-128A>T 0.380391 0.2927 Uncertain 13_24234517_A->G 13 24234517 24234517 A G snp 3872.77 1/1 99 147 0 147 1.0 exonic rs3751364 TNFRSF19 AU synonymous SNV NM_001204459 exon5 c.A228G p.S76S 0.659944 0.5893 0.739736 0.7359 0.5965 Uncertain 13_24242801_A->G 13 24242801 24242801 A G snp 688.77 0/1 99 61 30 31 0.51 intronic rs7329483 TNFRSF19 AU NM_001204459 exon7 c.41948-29A>G 0.786741 0.7808 0.841381 0.8446 0.7678 Uncertain 13_24243200_T->C 13 24243200 24243200 T C snp 2516.77 1/1 99 86 0 86 1.0 exonic rs3751363 TNFRSF19 AU synonymous SNV NM_001204459 exon7 c.T813C p.G271G 0.802716 0.8204 0.842380 0.8562 0.8280 Uncertain 13_24410278_G->A 13 24410278 24410278 G A snp 1275.77 0/1 99 115 63 52 0.45 intronic rs7982516 MIPEP AU NM_005932 exon6 c.105892-100G>A 0.430312 0.3353 Uncertain 13_24411772_T->C 13 24411772 24411772 T C snp 3060.77 1/1 99 115 1 114 0.99 exonic rs7333040 MIPEP AU nonsynonymous SNV NM_005932 exon13 c.A1462G p.S488G 0.983027 1 0.985084 0.9936 1 1 T 0.008 P -0.918 T 0.0 T 0.006 T Pathogenic 13_24433244_A->G 13 24433244 24433244 A G snp 174.9 1/1 15 5 0 5 1.0 intronic rs9553082 MIPEP AU NM_005932 exon10 c.128565+193A>G 0.947684 1 Uncertain 13_24436230_C->T 13 24436230 24436230 C T snp 312.78 1/1 24 12 0 12 1.0 intronic rs1886972 MIPEP AU NM_005932 exon11 c.131954-210C>T 0.946286 1 Uncertain 13_24449095_T->A 13 24449095 24449095 T A snp 293.77 0/1 99 28 16 12 0.43 intronic rs117852319 MIPEP AU NM_005932 exon15 c.144562+47T>A 0.0061901 0.0308 0.0018 0.0248 Uncertain 13_24453482_T->C 13 24453482 24453482 T C snp 86.77 0/1 99 19 14 5 0.26 exonic rs746643371 MIPEP AU nonsynonymous SNV NM_005932 exon4 c.A464G p.N155S 8.325e-06 0 0.01 T 1.000 D -1.169 T 0.776 T 0.521 P Pathogenic 13_24455686_T->C 13 24455686 24455686 T C snp 43.77 0/1 66 5 2 3 0.6 intronic rs3794340 MIPEP AU NM_005932 exon17 c.151351-151T>C 0.257987 0.4563 Uncertain 13_24463618_C->G 13 24463618 24463618 C G snp 97.77 0/1 99 8 4 4 0.5 UTR5 rs2077440 C1QTNF9B-AS1 AU 0.257588 0.4563 Uncertain 13_24465307_G->A 13 24465307 24465307 G A snp 613.77 0/1 99 47 24 23 0.49 UTR3 rs3814794 C1QTNF9B AU 0.223442 0.4583 Uncertain 13_24465717_A->G 13 24465717 24465717 A G snp 1495.77 0/1 99 250 158 92 0.37 exonic rs3864970 C1QTNF9B AU nonsynonymous SNV NM_001007537 exon3 c.T713C p.V238A 0.296725 0.4623 0.2615 0.4497 0.09 T 1.0 P -0.984 T 0.0 T 0.001 T Pathogenic 13_24465743_A->G 13 24465743 24465743 A G snp 6359.77 1/1 99 250 0 250 1.0 exonic rs3864971 C1QTNF9B AU synonymous SNV NM_001007537 exon3 c.T687C p.N229N 0.983826 1 0.984832 0.9962 0.9999 Uncertain 13_24466302_A->G 13 24466302 24466302 A G snp 297.77 0/1 99 32 16 16 0.5 intronic rs9510925 C1QTNF9B AU NM_001007537 exon1 c.773+102A>G 0.277756 0.4692 Uncertain 13_24468539_A->G 13 24468539 24468539 A G snp 272.77 0/1 99 35 22 13 0.37 intronic rs139605562 C1QTNF9B AU NM_001007537 exon2 c.2913+199A>G 0.324081 0.4563 Uncertain 13_24468540_C->T 13 24468540 24468540 C T snp 260.77 0/1 99 35 22 13 0.37 intronic rs9553091 C1QTNF9B AU NM_001007537 exon2 c.2913+200C>T 0.324081 0.4563 Uncertain 13_24468568_A->G 13 24468568 24468568 A G snp 314.77 0/1 99 51 35 16 0.31 intronic rs12866374 C1QTNF9B AU NM_001007537 exon2 c.2913+228A>G 0.320687 0.4524 Uncertain 13_24468644_TG->- 13 24468644 24468645 TG - indel 1608.73 0/1 99 110 72 38 0.35 intronic rs150835167 C1QTNF9B AU NM_001007537 exon2 c.2913+304_2913+305delTG 0.30611 0.4147 0.2457 0.33 Uncertain 13_24468704_G->A 13 24468704 24468704 G A snp 869.77 0/1 99 113 74 39 0.35 intronic rs78881146 C1QTNF9B AU NM_001007537 exon2 c.2913+364G>A 0.325679 0.4613 0.2438 0.3333 Uncertain 13_24468711_G->C 13 24468711 24468711 G C snp 350.77 0/1 99 110 84 26 0.24 intronic rs3864973 C1QTNF9B AU NM_001007537 exon2 c.2913+371G>C 0.0641 0.1515 Uncertain 13_24468763_T->C 13 24468763 24468763 T C snp 69.77 0/1 98 55 47 8 0.15 intronic rs2871990 C1QTNF9B AU NM_001007537 exon2 c.2913+423T>C 0.0370 0.0492 Uncertain 13_24470913_T->G 13 24470913 24470913 T G snp 335.77 0/1 99 39 25 14 0.36 intronic rs7317337 C1QTNF9B AU NM_001007537 exon3 c.5532-46T>G 0.364678 0.3743 0.4129 Uncertain 13_24471039_T->G 13 24471039 24471039 T G snp 1811.77 0/1 99 228 107 121 0.53 exonic rs66990269 C1QTNF9B AU synonymous SNV NM_001007537 exon1 c.A87C p.G29G 0.3170 0.4429 Uncertain 13_24471048_C->T 13 24471048 24471048 C T snp 1828.77 0/1 99 236 134 102 0.43 exonic rs35159134 C1QTNF9B AU synonymous SNV NM_001007537 exon1 c.G78A p.G26G 0.210463 0.4752 0.2197 0.4422 Uncertain 13_24471232_A->G 13 24471232 24471232 A G snp 550.77 0/1 99 31 9 22 0.71 upstream rs9510930 C1QTNF9B AU 0.345847 0.5089 Uncertain 13_24797913_C->T 13 24797913 24797913 C T snp 2749.77 0/1 99 246 138 108 0.44 exonic rs1220546 SPATA13 AU synonymous SNV NM_001166271 exon2 c.C846T p.D282D 0.26258 0.4405 0.261279 0.2905 0.4544 0.000 P -1.024 T Likely benign 13_24798120_T->C 13 24798120 24798120 T C snp 1749.77 0/1 99 187 112 75 0.4 exonic rs1220547 SPATA13 AU synonymous SNV NM_001166271 exon2 c.T1053C p.L351L 0.504593 0.505 0.536794 0.4655 0.5199 0.000 P -0.977 T Likely benign 13_24798943_T->G 13 24798943 24798943 T G snp 510.77 0/1 99 40 20 20 0.5 intronic rs74437287 SPATA13 AU NM_001166271 exon2 c.1653+223T>G 0.0439297 0.2093 0.0063 0.1978 Uncertain 13_24844856_T->C 13 24844856 24844856 T C snp 96.28 1/1 9 4 0 4 1.0 intronic rs2861550 SPATA13 AU NM_001166271 exon5 c.61205-13416T>C 0.834465 0.8631 Uncertain 13_24860240_A->G 13 24860240 24860240 A G snp 350.78 1/1 27 11 0 11 1.0 intronic rs9507300 SPATA13 AU NM_001166271 exon6 c.63284-111A>G 0.777356 0.9157 Uncertain 13_24868753_A->- 13 24868753 24868753 A - indel 2675.73 1/1 99 64 0 64 1.0 intronic rs34017703 SPATA13 AU NM_001166271 exon10 c.71809-123delA 0.736621 0.8879 Uncertain 13_24869025_A->G 13 24869025 24869025 A G snp 1151.77 1/1 84 35 0 35 1.0 intronic rs7993660 SPATA13 AU NM_001166271 exon10 c.71939+19A>G 0.991014 1 0.990543 0.9975 1 Uncertain 13_24869048_T->C 13 24869048 24869048 T C snp 756.77 1/1 57 20 0 20 1.0 intronic rs9553233 SPATA13 AU NM_001166271 exon10 c.71939+42T>C 0.753794 0.9216 0.722359 0.7268 0.9243 Uncertain 13_24869062_A->G 13 24869062 24869062 A G snp 554.77 1/1 42 15 0 15 1.0 intronic rs9553234 SPATA13 AU NM_001166271 exon10 c.71939+56A>G 0.341054 0.3631 Uncertain 13_24890157_C->T 13 24890157 24890157 C T snp 1790.77 0/1 99 189 106 83 0.44 exonic rs1974332 C1QTNF9 AU nonsynonymous SNV NM_001303138 exon2 c.C16T p.L6F 0.263978 0.2748 0.216515 0.2032 0.2565 0.14 T 0.000 P -1.094 T 0.062 T 0.05 T Pathogenic 13_24890228_A->C 13 24890228 24890228 A C snp 1407.77 0/1 99 201 119 82 0.41 exonic rs4275724 C1QTNF9 AU synonymous SNV NM_001303138 exon2 c.A87C p.G29G 0.267572 0.2728 0.220919 0.2053 0.2571 Uncertain 13_24892754_G->A 13 24892754 24892754 G A snp 68.77 0/1 97 10 7 3 0.3 intronic C1QTNF9 AU NM_001303138 exon3 c.2814-201G>A Uncertain 13_24892755_T->C 13 24892755 24892755 T C snp 68.77 0/1 97 10 7 3 0.3 intronic C1QTNF9 AU NM_001303138 exon3 c.2814-200T>C Uncertain 13_24892820_T->C 13 24892820 24892820 T C snp 260.77 0/1 99 74 60 14 0.19 intronic rs3864972 C1QTNF9 AU NM_001303138 exon3 c.2814-135T>C Uncertain 13_24895437_G->A 13 24895437 24895437 G A snp 2401.84 1/1 18 117 24 93 0.79 exonic rs202198487 C1QTNF9 AU nonsynonymous SNV NM_001303138 exon4 c.G533A p.R178Q 0.173722 0.2808 0.099632 0.2313 0.4672 0.01 T 0.987 P -1.015 T 0.054 T 0.013 T Pathogenic 13_24895559_A->G 13 24895559 24895559 A G snp 3064.77 0/1 99 250 112 138 0.55 exonic rs3751357 C1QTNF9 AU nonsynonymous SNV NM_001303138 exon4 c.A655G p.M219V 0.7473 0.7404 0.67 T 0.0 P -0.939 T 0.0 T 0.0 T Pathogenic 13_24895684_A->G 13 24895684 24895684 A G snp 8070.77 1/1 99 250 1 249 1.0 exonic rs2862239 C1QTNF9 AU synonymous SNV NM_001303138 exon4 c.A780G p.R260R 0.895767 0.9573 0.876077 0.9253 0.9669 0.83 T 0.001 P -0.988 T Likely benign 13_25008588_A->G 13 25008588 25008588 A G snp 2247.77 1/1 99 75 0 75 1.0 exonic rs1372085 PARP4 AU nonsynonymous SNV NM_006437 exon31 c.T4691C p.I1564T 0.948083 0.994 0.933185 0.9560 0.9983 0.63 T 0.0 P -1.041 T 0.0 T 0.0 T Pathogenic 13_25008630_A->G 13 25008630 25008630 A G snp 3146.77 1/1 99 116 0 116 1.0 exonic rs1822135 PARP4 AU nonsynonymous SNV NM_006437 exon31 c.T4649C p.L1550P 0.942692 0.9931 0.931262 0.9551 0.9983 0.62 T 0.0 P -1.066 T 0.0 T 0.0 T Pathogenic 13_25008903_G->T 13 25008903 25008903 G T snp 1126.77 1/1 84 34 0 34 1.0 exonic rs9318536 PARP4 AU nonsynonymous SNV NM_006437 exon31 c.C4376A p.S1459Y 0.943091 0.994 0.9552 0.9982 1 T 0.0 P -0.943 T 0.052 T 0.037 T Pathogenic 13_25009099_A->C 13 25009099 25009099 A C snp 1156.77 1/1 84 40 0 40 1.0 exonic rs9511259 PARP4 AU nonsynonymous SNV NM_006437 exon31 c.T4180G p.S1394A 0.948083 0.994 0.933492 0.9559 0.9983 1 T 0.0 P -0.957 T 0.0 T 0.0 T Pathogenic 13_25016230_C->T 13 25016230 25016230 C T snp 635.03 1/1 12 19 1 18 0.95 intronic rs9511267 PARP4 AU NM_006437 exon5 c.20850+124C>T Uncertain 13_25016687_C->T 13 25016687 25016687 C T snp 1617.77 1/1 99 58 0 58 1.0 intronic rs4770683 PARP4 AU NM_006437 exon6 c.21471-40C>T 0.945288 0.994 0.933164 0.9535 0.9983 Uncertain 13_25016870_C->A 13 25016870 25016870 C A snp 91.77 0/1 99 73 59 14 0.19 intronic rs3816221 PARP4 AU NM_006437 exon6 c.21567+47C>A 0.522587 0.5397 0.5375 Uncertain 13_25016924_C->T 13 25016924 25016924 C T snp 56.77 0/1 85 26 21 5 0.19 intronic rs112553634 PARP4 AU NM_006437 exon6 c.21567+101C>T Uncertain 13_25016940_C->T 13 25016940 25016940 C T snp 53.77 0/1 82 15 12 3 0.2 intronic rs113302724 PARP4 AU NM_006437 exon6 c.21567+117C>T Uncertain 13_25016992_G->A 13 25016992 25016992 G A snp 54.74 1/1 6 2 0 2 1.0 intronic rs3816220 PARP4 AU NM_006437 exon6 c.21567+169G>A 0.944888 0.994 Uncertain 13_25018033_C->T 13 25018033 25018033 C T snp 224.84 1/1 18 6 0 6 1.0 intronic rs9553297 PARP4 AU NM_006437 exon7 c.22612+165C>T 0.511382 0.6071 Uncertain 13_25020757_T->C 13 25020757 25020757 T C snp 731.77 1/1 54 22 0 22 1.0 intronic rs9511273 PARP4 AU NM_006437 exon8 c.25562-61T>C 0.820088 0.9663 Uncertain 13_25020782_C->G 13 25020782 25020782 C G snp 957.77 1/1 69 33 0 33 1.0 intronic rs9318553 PARP4 AU NM_006437 exon8 c.25562-36C>G 0.819888 0.9663 0.803214 0.9104 0.9811 Uncertain 13_25020863_G->A 13 25020863 25020863 G A snp 1294.77 1/1 93 48 0 48 1.0 exonic rs9318554 PARP4 AU nonsynonymous SNV NM_006437 exon27 c.C3322T p.R1108C 0.876597 0.9663 0.864447 0.9295 0.9811 0.16 T 0.0 P -0.963 T 0.0 T 0.0 T Pathogenic 13_25020910_G->A 13 25020910 25020910 G A snp 1070.77 1/1 78 39 0 39 1.0 intronic rs9507346 PARP4 AU NM_006437 exon8 c.25643+11G>A 0.876597 0.9663 0.844048 0.9288 0.9804 Uncertain 13_25021145_TCT->- 13 25021145 25021147 TCT - indel 2800.73 1/1 99 49 0 49 1.0 intronic rs371092679 PARP4 AU NM_006437 exon9 c.25897-8_25897-6delTCT 0.9068 0.9798 Uncertain 13_25021154_C->T 13 25021154 25021154 C T snp 1393.77 1/1 65 53 1 52 0.98 exonic rs61947037 PARP4 AU synonymous SNV NM_006437 exon26 c.G3285A p.Q1095Q 0.495208 0.6062 0.379751 0.5586 0.6378 Uncertain 13_25021200_A->C 13 25021200 25021200 A C snp 2021.77 1/1 99 84 0 84 1.0 exonic rs9318558 PARP4 AU nonsynonymous SNV NM_006437 exon26 c.T3239G p.L1080R 0.948283 0.994 0.931769 0.9554 0.9981 0.57 T 0.000 P -1.026 T 0.0 T 0.0 T Pathogenic 13_25021211_C->T 13 25021211 25021211 C T snp 1839.79 0/1 23 90 12 78 0.87 exonic rs7333856 PARP4 AU synonymous SNV NM_006437 exon26 c.G3228A p.P1076P 0.786941 0.9177 0.7932 0.8127 Uncertain 13_25021245_A->G 13 25021245 25021245 A G snp 1479.77 0/1 99 76 16 60 0.79 exonic rs7334587 PARP4 AU nonsynonymous SNV NM_006437 exon26 c.T3194C p.V1065A 0.5921 0.5708 1 T 0.0 P -1.034 T 0.0 T 0.0 T Pathogenic 13_25021323_A->G 13 25021323 25021323 A G snp 48.77 0/1 77 41 33 8 0.2 exonic rs73172125 PARP4 AU nonsynonymous SNV NM_006437 exon26 c.T3116C p.I1039T 0.3805 0.4386 0.01 T 0.978 D -0.905 T 0.856 T 0.657 P Pathogenic 13_25027744_A->G 13 25027744 25027744 A G snp 5784.77 1/1 99 221 0 221 1.0 exonic rs4770684 PARP4 AU nonsynonymous SNV NM_006437 exon23 c.T2807C p.M936T 0.936502 0.994 0.933338 0.9619 0.9983 0.63 T 0.0 P -1.000 T 0.001 T 0.003 T Pathogenic 13_25029066_A->G 13 25029066 25029066 A G snp 125.8 0/1 21 6 1 5 0.83 intronic rs7317133 PARP4 AU NM_006437 exon13 c.33898-88A>G 0.28135 0.3442 Uncertain 13_25029128_G->A 13 25029128 25029128 G A snp 416.77 0/1 99 25 9 16 0.64 intronic rs7338384 PARP4 AU NM_006437 exon13 c.33898-26G>A 0.248602 0.3442 0.215900 0.2075 0.3175 Uncertain 13_25029218_C->T 13 25029218 25029218 C T snp 802.77 0/1 99 85 43 42 0.49 exonic rs2275660 PARP4 AU nonsynonymous SNV NM_006437 exon22 c.G2695A p.A899T 0.654153 0.6498 0.679225 0.7420 0.6840 0.12 T 1.000 P -1.128 T 1.0 D 0.999 D Pathogenic 13_25029295_C->T 13 25029295 25029295 C T snp 849.77 0/1 99 86 42 44 0.51 exonic rs7140044 PARP4 AU nonsynonymous SNV NM_006437 exon22 c.G2618A p.S873N 0.224641 0.3194 0.194679 0.1965 0.2938 0.5 T 0.0 P -0.902 T 0.0 T 0.0 T Pathogenic 13_25029401_C->G 13 25029401 25029401 C G snp 302.77 0/1 99 26 13 13 0.5 intronic rs7317188 PARP4 AU NM_006437 exon13 c.34094+51C>G 0.3125 0.3145 0.338305 0.3237 0.2886 Uncertain 13_25034384_C->T 13 25034384 25034384 C T snp 948.77 0/1 99 82 44 38 0.46 intronic rs750771 PARP4 AU NM_006437 exon17 c.39018+110C>T 0.255192 0.3423 Uncertain 13_25043029_C->T 13 25043029 25043029 C T snp 499.77 1/1 39 16 0 16 1.0 intronic rs4770694 PARP4 AU NM_006437 exon18 c.47905-132C>T 0.556909 0.6002 Uncertain 13_25043033_C->G 13 25043033 25043033 C G snp 528.77 1/1 42 17 0 17 1.0 intronic rs4770695 PARP4 AU NM_006437 exon18 c.47905-128C>G 0.545128 0.6002 Uncertain 13_25043365_G->A 13 25043365 25043365 G A snp 96.28 1/1 9 3 0 3 1.0 intronic rs9507354 PARP4 AU NM_006437 exon18 c.47992+117G>A 0.557109 0.6012 Uncertain 13_25049467_A->G 13 25049467 25049467 A G snp 94.28 1/1 9 3 0 3 1.0 intronic rs7996445 PARP4 AU NM_006437 exon20 c.54353-142A>G 0.544529 0.5992 Uncertain 13_25049676_G->A 13 25049676 25049676 G A snp 1114.77 0/1 99 90 38 52 0.58 exonic rs73463182 PARP4 AU synonymous SNV NM_006437 exon15 c.C1848T p.A616A 0.18131 0.2937 0.125557 0.1099 0.2857 Uncertain 13_25049812_T->C 13 25049812 25049812 T C snp 133.03 1/1 12 4 0 4 1.0 intronic rs8001930 PARP4 AU NM_006437 exon20 c.54478+78T>C 0.601637 0.5992 Uncertain 13_25051718_T->C 13 25051718 25051718 T C snp 139.03 1/1 12 4 0 4 1.0 intronic rs9511302 PARP4 AU NM_006437 exon21 c.56582-120T>C 0.544529 0.5992 Uncertain 13_25052261_C->T 13 25052261 25052261 C T snp 2338.77 1/1 99 92 0 92 1.0 exonic rs4770696 PARP4 AU synonymous SNV NM_006437 exon13 c.G1602A p.S534S 0.544529 0.5992 0.495848 0.5504 0.6258 Uncertain 13_25052420_T->A 13 25052420 25052420 T A snp 910.77 0/1 99 78 40 38 0.49 splicing rs17080653 PARP4 AU NM_006437 exon22 c.57158+6T>A 0.302316 0.2698 0.261725 0.3270 0.3010 Pathogenic 13_25059023_C->T 13 25059023 25059023 C T snp 593.77 1/1 45 17 0 17 1.0 intronic rs4769362 PARP4 AU NM_006437 exon23 c.63630+137C>T 0.937101 0.994 Uncertain 13_25059056_T->G 13 25059056 25059056 T G snp 86.28 1/1 9 3 0 3 1.0 intronic rs4770697 PARP4 AU NM_006437 exon23 c.63630+170T>G 0.311102 0.2778 Uncertain 13_25065008_A->G 13 25065008 25065008 A G snp 866.77 0/1 99 51 23 28 0.55 intronic rs1361577 PARP4 AU NM_006437 exon25 c.69710+42A>G 0.28155 0.252 0.272720 0.3293 0.2990 Uncertain 13_25066470_T->C 13 25066470 25066470 T C snp 146.77 0/1 99 15 10 5 0.33 intronic rs2275661 PARP4 AU NM_006437 exon26 c.71302-88T>C 0.177516 0.3185 Uncertain 13_25068620_G->C 13 25068620 25068620 G C snp 95.28 1/1 9 4 0 4 1.0 intronic rs2862906 PARP4 AU NM_006437 exon28 c.73454-90G>C 0.601837 0.6022 Uncertain 13_25068934_G->T 13 25068934 25068934 G T snp 649.77 1/1 48 20 0 20 1.0 intronic rs4770700 PARP4 AU NM_006437 exon28 c.73604+74G>T 0.559105 0.6022 Uncertain 13_25072200_T->C 13 25072200 25072200 T C snp 3623.77 1/1 99 129 0 129 1.0 intronic rs1965154 PARP4 AU NM_006437 exon29 c.76997-53T>C 0.483626 0.5754 Uncertain 13_25073399_-->T 13 25073399 25073399 - T indel 63.73 0/1 99 28 11 17 0.61 intronic rs34014909 PARP4 AU NM_006437 exon30 c.78182-39insT 0.304912 0.3304 0.1334 0.0993 Uncertain 13_25075859_C->T 13 25075859 25075859 C T snp 5599.77 1/1 99 210 0 210 1.0 exonic rs1539096 PARP4 AU synonymous SNV NM_006437 exon3 c.G246A p.R82R 0.605232 0.6062 0.552976 0.5724 0.6305 Uncertain 13_25078073_C->G 13 25078073 25078073 C G snp 289.77 0/1 99 39 25 14 0.36 intronic rs2012359 PARP4 AU NM_006437 exon33 c.82659+158C>G 0.222444 0.3185 Uncertain 13_25255052_A->C 13 25255052 25255052 A C snp 420.77 0/1 99 39 20 19 0.49 intronic rs61948065 ATP12A AU NM_001676 exon1 c.9+162A>C 0.142173 0.123 Uncertain 13_25272870_C->T 13 25272870 25272870 C T snp 1375.77 0/1 99 123 65 58 0.47 exonic rs2289901 ATP12A AU synonymous SNV NM_001185085 exon12 c.C1605T p.I535I 0.247804 0.1567 0.241427 0.1777 0.1901 Uncertain 13_25280753_C->T 13 25280753 25280753 C T snp 119.78 0/1 25 5 1 4 0.8 intronic rs2289905 ATP12A AU NM_001676 exon15 c.25720+152C>T 0.247604 0.3046 Uncertain 13_25283494_C->T 13 25283494 25283494 C T snp 509.77 0/1 99 53 30 23 0.43 intronic rs895423 ATP12A AU NM_001676 exon18 c.28620-7C>T 0.103834 0.126 0.092188 0.1101 0.1554 Uncertain 13_25283657_G->C 13 25283657 25283657 G C snp 475.77 0/1 99 42 22 20 0.48 intronic rs2289910 ATP12A AU NM_001676 exon18 c.28744+32G>C 0.377596 0.372 0.427649 0.4176 0.3371 Uncertain 13_25283744_G->A 13 25283744 25283744 G A snp 495.77 0/1 99 37 19 18 0.49 intronic rs7318859 ATP12A AU NM_001676 exon19 c.28939-76G>A 0.24401 0.2639 Uncertain 13_25284407_A->T 13 25284407 25284407 A T snp 41.77 0/1 70 4 2 2 0.5 intronic rs735874 ATP12A AU NM_001676 exon20 c.29716-190A>T 0.202676 0.128 Uncertain 13_25285768_G->T 13 25285768 25285768 G T snp 292.77 0/1 99 22 11 11 0.5 UTR3 rs2722 ATP12A AU 0.203874 0.2341 Uncertain 13_25285811_C->T 13 25285811 25285811 C T snp 43.77 0/1 72 7 3 4 0.57 UTR3 rs17081086 ATP12A AU 0.0952476 0.126 Uncertain 13_25338586_A->G 13 25338586 25338586 A G snp 56.74 1/1 6 3 0 3 1.0 intronic rs9578783 RNF17 AU NM_031277 exon1 c.130+115A>G 0.942692 1 Uncertain 13_25355966_T->- 13 25355966 25355966 T - indel 231.52 0/1 7 13 2 11 0.85 intronic rs5802305 RNF17 AU NM_031277 exon6 c.17640-15delT 0.8236 0.7958 Uncertain 13_25363776_C->T 13 25363776 25363776 C T snp 563.77 1/1 42 19 0 19 1.0 intronic rs6490979 RNF17 AU NM_031277 exon9 c.25494-59C>T 0.965655 0.9425 0.982660 Uncertain 13_25370255_A->G 13 25370255 25370255 A G snp 1266.77 1/1 96 45 0 45 1.0 intronic rs1446294 RNF17 AU NM_031277 exon11 c.31933-19A>G 0.864816 0.8383 0.861756 0.8674 0.8531 Uncertain 13_25378476_A->G 13 25378476 25378476 A G snp 1482.77 1/1 99 55 0 55 1.0 exonic rs9511451 RNF17 AU nonsynonymous SNV NM_001184993 exon15 c.A2000G p.H667R 0.21246 0.3244 0.234077 0.2586 0.2826 0.65 T 0.0 P -0.937 T 0.0 T 0.0 T Pathogenic 13_25399752_A->G 13 25399752 25399752 A G snp 1120.77 1/1 84 39 0 39 1.0 splicing rs2121253 RNF17 AU NM_031277 exon16 c.61415-4A>G 0.864816 0.8383 0.862175 0.8676 0.8536 Pathogenic 13_25404743_T->C 13 25404743 25404743 T C snp 823.77 1/1 60 28 0 28 1.0 splicing rs4769382 RNF17 AU NM_031277 exon17 c.66396+6T>C 0.966454 0.9464 0.982467 0.9895 0.9474 Pathogenic 13_25418996_T->G 13 25418996 25418996 T G snp 3758.77 1/1 99 134 2 132 0.99 intronic rs9511472 RNF17 AU NM_031277 exon21 c.80599+56T>G 0.21226 0.3254 Uncertain 13_25419176_A->G 13 25419176 25419176 A G snp 1661.77 1/1 99 57 0 57 1.0 exonic rs6490984 RNF17 AU synonymous SNV NM_001184993 exon22 c.A3060G p.T1020T 0.864217 0.8353 0.861295 0.8671 0.8508 Uncertain 13_25424369_A->G 13 25424369 25424369 A G snp 633.77 1/1 48 21 0 21 1.0 intronic rs9511476 RNF17 AU NM_031277 exon23 c.86137-109A>G 0.21226 0.3254 Uncertain 13_25440318_G->A 13 25440318 25440318 G A snp 1360.77 1/1 96 55 0 55 1.0 exonic rs9507425 RNF17 AU nonsynonymous SNV NM_001184993 exon30 c.G4126A p.E1376K 0.212061 0.3254 0.234231 0.2523 0.2757 0.81 T 0.988 P -0.983 T 0.002 T 0.004 T Pathogenic 13_25442631_A->G 13 25442631 25442631 A G snp 781.77 1/1 63 22 0 22 1.0 intronic rs113369387 RNF17 AU NM_031277 exon31 c.104396-106A>G 0.452676 0.6677 Uncertain 13_25442653_G->A 13 25442653 25442653 G A snp 690.77 0/1 99 47 22 25 0.53 intronic rs557088117 RNF17 AU NM_031277 exon31 c.104396-84G>A 0.000199681 0.001 Uncertain 13_25444934_C->T 13 25444934 25444934 C T snp 634.77 1/1 48 18 0 18 1.0 intronic rs2305368 RNF17 AU NM_031277 exon32 c.106536+57C>T 0.211661 0.3194 Uncertain 13_25448120_G->A 13 25448120 25448120 G A snp 828.77 1/1 63 23 0 23 1.0 intronic rs8001764 RNF17 AU NM_031277 exon33 c.109910-131G>A 0.746406 0.9177 Uncertain 13_25451000_-->ATTTCCT 13 25451000 25451000 - ATTTCCT indel 565.8 1/1 18 6 0 6 1.0 intronic rs371101122 RNF17 AU NM_031277 exon34 c.112793-134insATTTCCT 0.46226 0.4712 Uncertain 13_25451097_G->A 13 25451097 25451097 G A snp 3389.77 1/1 99 121 0 121 1.0 intronic rs9553460 RNF17 AU NM_031277 exon34 c.112793-37G>A 0.210463 0.3194 0.234005 0.2565 0.2746 Uncertain 13_25457207_T->C 13 25457207 25457207 T C snp 342.78 1/1 27 9 0 9 1.0 UTR3 rs9318911 CENPJ AR 0.966653 0.9425 Uncertain 13_25458233_GTT->- 13 25458233 25458235 GTT - indel 7867.73 1/1 99 146 0 146 1.0 intronic rs34991318 CENPJ AR NM_018451 exon2 c.907+12_907+14delGTT 0.516374 0.7778 0.465096 0.5503 0.7975 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_multiple_submitters\x2c_no_conflicts;CLNACC=RCV000145579.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 13_25458650_G->A 13 25458650 25458650 G A snp 2005.77 1/1 99 59 0 59 1.0 intronic rs1530876 CENPJ AR NM_018451 exon4 c.1287+49G>A 0.748203 0.8601 0.782101 0.8066 0.8458 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000145578.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 13_25460428_A->G 13 25460428 25460428 A G snp 2969.77 1/1 99 105 0 105 1.0 intronic rs9511502 CENPJ AR NM_018451 exon6 c.2494+620A>G 0.964457 0.9425 0.9869 0.8958 0 D 0.0 P -1.056 T Uncertain 13_25466774_T->C 13 25466774 25466774 T C snp 870.77 1/1 66 26 0 26 1.0 intronic rs9318917 CENPJ AR NM_018451 exon8 c.9466-6T>C 0.73722 0.8601 0.767876 0.8036 0.8460 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_multiple_submitters\x2c_no_conflicts;CLNACC=RCV000145574.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 13_25466955_T->C 13 25466955 25466955 T C snp 3276.77 1/1 99 129 0 129 1.0 exonic rs3742165 CENPJ AR synonymous SNV NM_018451 exon10 c.A3042G p.E1014E 0.484026 0.7024 0.451868 0.5395 0.7101 1.000 P -0.946 T CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_multiple_submitters\x2c_no_conflicts;CLNACC=RCV000145573.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Likely benign 13_25482092_T->A 13 25482092 25482092 T A snp 2993.77 1/1 99 105 0 105 1.0 intronic rs2122883 CENPJ AR NM_018451 exon13 c.24841-63T>A 0.155152 0.3462 Uncertain 13_25487103_T->C 13 25487103 25487103 T C snp 3309.77 1/1 99 116 0 116 1.0 exonic rs35498994 CENPJ AR nonsynonymous SNV NM_018451 exon2 c.A61G p.M21V 0.155152 0.3462 0.121790 0.1450 0.3265 0 D 0.102 P -0.954 T 0.807 T 0.197 P CLINSIG=non-pathogenic|unknown,non-pathogenic|non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided,Primary_autosomal_recessive_microcephaly_6|not_specified|not_provided;CLNREVSTAT=criteria_provided\x2c_multiple_submitters\x2c_no_conflicts|no_assertion_criteria_provided,no_assertion_criteria_provided|criteria_provided\x2c_multiple_submitters\x2c_no_conflicts|criteria_provided\x2c_single_submitter;CLNACC=RCV000145583.1|RCV000152967.2,RCV000020856.1|RCV000081958.4|RCV000124232.1;CLNDSDB=MedGen|MedGen,GeneReviews:MedGen:OMIM:Orphanet|MedGen|MedGen;CLNDSDBID=CN169374|CN221809,NBK9587:C1842109:608393:ORPHA2512|CN169374|CN221809 Pathogenic 13_25670753_T->C 13 25670753 25670753 T C snp 100.77 0/1 99 119 107 12 0.1 exonic PABPC3 AU synonymous SNV NM_030979 exon1 c.T417C p.G139G Uncertain 13_25670767_A->G 13 25670767 25670767 A G snp 318.77 0/1 99 122 104 18 0.15 exonic rs79159999 PABPC3 AU nonsynonymous SNV NM_030979 exon1 c.A431G p.H144R 0 D 0.998 D -1.053 T 1.0 D 0.999 D Pathogenic 13_25670776_C->T 13 25670776 25670776 C T snp 367.77 0/1 99 124 105 19 0.15 exonic rs78432860 PABPC3 AU nonsynonymous SNV NM_030979 exon1 c.C440T p.T147I 0 D 0.999 D 0.020 D 0.978 D 0.749 D Pathogenic 13_25670777_A->G 13 25670777 25670777 A G snp 350.77 0/1 99 124 105 19 0.15 exonic rs76472384 PABPC3 AU synonymous SNV NM_030979 exon1 c.A441G p.T147T Uncertain 13_25670780_C->G 13 25670780 25670780 C G snp 378.77 0/1 99 128 108 20 0.16 exonic rs79494472 PABPC3 AU nonsynonymous SNV NM_030979 exon1 c.C444G p.H148Q 0.76 T 0.920 N -0.905 T 0.0 T 0.003 T Pathogenic 13_25670797_C->G 13 25670797 25670797 C G snp 650.77 0/1 99 137 106 31 0.23 exonic rs75760907 PABPC3 AU nonsynonymous SNV NM_030979 exon1 c.C461G p.A154G 1.647e-05 0 0 D 0.999 D -0.641 T 0.998 D 0.988 D Pathogenic 13_25670803_A->G 13 25670803 25670803 A G snp 661.77 0/1 99 145 113 32 0.22 exonic rs76858651 PABPC3 AU nonsynonymous SNV NM_030979 exon1 c.A467G p.K156R 0.01 T 1.000 N -1.028 T 0.0 T 0.001 T Pathogenic 13_25670813_C->T 13 25670813 25670813 C T snp 827.77 0/1 99 154 112 42 0.27 exonic rs3002212 PABPC3 AU synonymous SNV NM_030979 exon1 c.C477T p.N159N 0.043131 0.001 0.039982 0.0121 0 Uncertain 13_25670851_A->G 13 25670851 25670851 A G snp 1092.77 0/1 99 175 120 55 0.31 exonic rs75475407 PABPC3 AU nonsynonymous SNV NM_030979 exon1 c.A515G p.Q172R 0.0505192 0.0268 0.0016 0 1 T 1.000 N -0.984 T 0.0 T 0.0 T Pathogenic 13_25670868_G->A 13 25670868 25670868 G A snp 1275.77 0/1 99 192 129 63 0.33 exonic rs200859889 PABPC3 AU nonsynonymous SNV NM_030979 exon1 c.G532A p.E178K 0.0523163 0.0298 0.0015 0.0007 0.02 T 1.000 D -0.385 T 0.632 T 0.094 P Pathogenic 13_25670873_A->G 13 25670873 25670873 A G snp 1228.77 0/1 99 193 132 61 0.32 exonic rs77142265 PABPC3 AU synonymous SNV NM_030979 exon1 c.A537G p.R179R 0.0547125 0.0347 0.0014 0.0007 Uncertain 13_25670877_G->A 13 25670877 25670877 G A snp 1301.77 0/1 99 197 133 64 0.32 exonic rs112107735 PABPC3 AU nonsynonymous SNV NM_030979 exon1 c.G541A p.A181T 0.0071885 0.002 0.0013 0.0007 0.08 T 0.995 D -0.281 T 0.627 T 0.253 P Pathogenic 13_25670907_C->A 13 25670907 25670907 C A snp 1633.77 0/1 99 214 139 75 0.35 exonic rs76264750 PABPC3 AU nonsynonymous SNV NM_030979 exon1 c.C571A p.P191T 0.0004 0.0001 1 T 0.990 N -0.755 T 0.0 T 0.0 T Pathogenic 13_25670919_A->G 13 25670919 25670919 A G snp 1677.77 0/1 99 207 133 74 0.36 exonic rs76861216 PABPC3 AU nonsynonymous SNV NM_030979 exon1 c.A583G p.I195V 0.00399361 0.002 0.0008 0 1 T 0.988 D -0.920 T 0.005 T 0.023 T Pathogenic 13_25670953_G->A 13 25670953 25670953 G A snp 1696.77 0/1 99 199 123 76 0.38 exonic rs74040928 PABPC3 AU nonsynonymous SNV NM_030979 exon1 c.G617A p.R206H 0.0091853 0.001 0.0030 0.0006 0.08 T 0.524 D -0.734 T 0.114 T 0.043 T Pathogenic 13_25670955_C->T 13 25670955 25670955 C T snp 1652.77 0/1 99 204 128 76 0.37 exonic rs79397892 PABPC3 AU nonsynonymous SNV NM_030979 exon1 c.C619T p.L207F 0.00539137 0.001 0.0019 0.0005 0.24 T 0.999 D -0.852 T 0.999 D 0.978 D Pathogenic 13_25670978_C->T 13 25670978 25670978 C T snp 1487.77 0/1 99 199 134 65 0.33 exonic rs556008880 PABPC3 AU synonymous SNV NM_030979 exon1 c.C642T p.F214F 0.00519169 0.001 0.0009 0.0006 Uncertain 13_25670981_G->C 13 25670981 25670981 G C snp 1344.77 0/1 99 208 142 66 0.32 exonic rs77476965 PABPC3 AU synonymous SNV NM_030979 exon1 c.G645C p.G215G 0.00539137 0.002 0.0007 0.0006 Uncertain 13_25670984_C->T 13 25670984 25670984 C T snp 1399.77 0/1 99 209 143 66 0.32 exonic rs11619791 PABPC3 AU synonymous SNV NM_030979 exon1 c.C648T p.P216P 0.0259585 0.001 0.043903 0.0343 0.0007 Uncertain 13_25670988_T->G 13 25670988 25670988 T G snp 1400.77 0/1 99 216 150 66 0.31 exonic rs74564616 PABPC3 AU nonsynonymous SNV NM_030979 exon1 c.T652G p.L218V 0.00559105 0.002 0.0006 0.0006 0.48 T 0.691 D -0.873 T 0.027 T 0.041 T Pathogenic 13_25671008_C->T 13 25671008 25671008 C T snp 1703.77 0/1 99 250 170 80 0.32 exonic rs76447065 PABPC3 AU synonymous SNV NM_030979 exon1 c.C672T p.T224T 0.0022 0.0032 Uncertain 13_25671015_A->G 13 25671015 25671015 A G snp 1723.77 0/1 99 250 171 79 0.32 exonic rs75314628 PABPC3 AU nonsynonymous SNV NM_030979 exon1 c.A679G p.S227G 0.0251597 0.0119 0.0019 0.0029 0.09 T 0.989 N -0.674 T 0.007 T 0.027 T Pathogenic 13_25671027_A->G 13 25671027 25671027 A G snp 1610.77 0/1 99 250 176 74 0.3 exonic rs78826513 PABPC3 AU nonsynonymous SNV NM_030979 exon1 c.A691G p.K231E 0.0020 0.0028 0 D 0.669 D -0.974 T 0.995 D 0.953 D Pathogenic 13_25671062_A->G 13 25671062 25671062 A G snp 1274.77 0/1 99 250 191 59 0.24 exonic rs78534836 PABPC3 AU synonymous SNV NM_030979 exon1 c.A726G p.E242E 0.0662 0.0963 Uncertain 13_25671080_A->G 13 25671080 25671080 A G snp 1141.77 0/1 99 250 195 55 0.22 exonic rs76241879 PABPC3 AU synonymous SNV NM_030979 exon1 c.A744G p.V248V 0.1118 0.1486 Uncertain 13_25671089_G->T 13 25671089 25671089 G T snp 1169.77 0/1 99 250 194 56 0.22 exonic rs75281454 PABPC3 AU nonsynonymous SNV NM_030979 exon1 c.G753T p.M251I 0.1064 0.1410 0.02 T 1.000 D -1.083 T 0.589 P 0.564 P Pathogenic 13_25671122_C->T 13 25671122 25671122 C T snp 1034.77 0/1 99 249 197 52 0.21 exonic rs79072440 PABPC3 AU synonymous SNV NM_030979 exon1 c.C786T p.Y262Y 0.0068 0.0080 Uncertain 13_25671143_A->G 13 25671143 25671143 A G snp 1000.77 0/1 99 250 204 46 0.18 exonic rs78671990 PABPC3 AU synonymous SNV NM_030979 exon1 c.A807G p.K269K 0.0004 0.0005 Uncertain 13_25671163_T->A 13 25671163 25671163 T A snp 596.77 0/1 99 249 215 34 0.14 exonic PABPC3 AU nonsynonymous SNV NM_030979 exon1 c.T827A p.L276H 0 D 1.000 D -1.031 T 1.0 D 0.999 D Pathogenic 13_25671168_C->T 13 25671168 25671168 C T snp 434.77 0/1 99 249 218 31 0.12 exonic rs78552667 PABPC3 AU nonsynonymous SNV NM_030979 exon1 c.C832T p.R278C 0.0001 0.0003 0 D 1.000 D -1.122 T 0.358 T 0.082 T Pathogenic 13_25671172_C->A 13 25671172 25671172 C A snp 688.77 0/1 99 248 213 35 0.14 exonic rs79593984 PABPC3 AU nonsynonymous SNV NM_030979 exon1 c.C836A p.T279K 0.0004 0.0005 1 T 1.000 N -0.930 T 0.0 T 0.0 T Pathogenic 13_25671195_A->G 13 25671195 25671195 A G snp 1430.77 0/1 99 250 187 63 0.25 exonic rs201411821 PABPC3 AU nonsynonymous SNV NM_030979 exon1 c.A859G p.R287G 0.0002 0.0002 0 D 0.998 D -0.995 T 0.399 T 0.15 T Pathogenic 13_25671200_C->T 13 25671200 25671200 C T snp 1500.77 0/1 99 250 185 65 0.26 exonic rs76111404 PABPC3 AU synonymous SNV NM_030979 exon1 c.C864T p.I288I 0.0005 0.0002 Uncertain 13_25671206_A->G 13 25671206 25671206 A G snp 1635.77 0/1 99 250 182 68 0.27 exonic rs76614854 PABPC3 AU synonymous SNV NM_030979 exon1 c.A870G p.R290R 0.0005 0.0002 Uncertain 13_25671210_C->T 13 25671210 25671210 C T snp 1560.77 0/1 99 250 182 68 0.27 exonic rs80062522 PABPC3 AU stopgain NM_030979 exon1 c.C874T p.Q292X 0.0005 0.0002 0.05 T 1 D Pathogenic 13_25671214_T->G 13 25671214 25671214 T G snp 1628.77 0/1 99 250 183 67 0.27 exonic rs201081849 PABPC3 AU nonsynonymous SNV NM_030979 exon1 c.T878G p.V293G 0.0008 0.0003 1 T 0.972 D -0.914 T 0.0 T 0.0 T Pathogenic 13_25671271_A->G 13 25671271 25671271 A G snp 1645.77 0/1 99 246 174 72 0.29 exonic rs79246694 PABPC3 AU nonsynonymous SNV NM_030979 exon1 c.A935G p.K312R 0.06 T 1.000 D -1.043 T 0.383 T 0.344 T Pathogenic 13_25671273_G->- 13 25671273 25671273 G - indel 2008.73 0/1 99 244 173 71 0.29 exonic rs376589131 PABPC3 AU frameshift deletion NM_030979 exon1 c.937delG p.A313fs Pathogenic 13_25671274_C->T 13 25671274 25671274 C T snp 1547.77 0/1 99 246 176 70 0.28 exonic rs76994938 PABPC3 AU nonsynonymous SNV NM_030979 exon1 c.C938T p.A313V 0.000399361 1.648e-05 0 0.16 T 0.934 N -1.039 T 0.039 T 0.018 T Pathogenic 13_25671292_C->T 13 25671292 25671292 C T snp 1813.77 0/1 99 250 170 80 0.32 exonic rs80261016 PABPC3 AU nonsynonymous SNV NM_030979 exon1 c.C956T p.T319I 0 0 0 D 1.000 D -1.090 T 0.726 T 0.45 P Pathogenic 13_25671311_TATGA->- 13 25671311 25671315 TATGA - indel 4430.73 0/1 99 247 178 69 0.28 exonic rs371130768 PABPC3 AU frameshift deletion NM_030979 exon1 c.975_979del p.V325fs Pathogenic 13_25671320_A->G 13 25671320 25671320 A G snp 1243.77 0/1 99 250 182 68 0.27 exonic rs756628931 PABPC3 AU synonymous SNV NM_030979 exon1 c.A984G p.E328E 0.0003 0.0001 Uncertain 13_25671369_G->T 13 25671369 25671369 G T snp 866.77 0/1 99 248 201 47 0.19 exonic rs76804900 PABPC3 AU stopgain NM_030979 exon1 c.G1033T p.E345X 0.0002 0 0 D 1 D Pathogenic 13_25671398_C->T 13 25671398 25671398 C T snp 301.77 0/1 99 250 222 28 0.11 exonic rs77306665 PABPC3 AU synonymous SNV NM_030979 exon1 c.C1062T p.N354N 0 0 Uncertain 13_25671667_A->T 13 25671667 25671667 A T snp 319.77 0/1 99 250 193 57 0.23 exonic rs75484271 PABPC3 AU nonsynonymous SNV NM_030979 exon1 c.A1331T p.K444M 0.122604 0.0744 0.0049 0.0006 1 T 0.996 N -1.002 T 0.0 T 0.0 T Pathogenic 13_25671672_A->G 13 25671672 25671672 A G snp 332.77 0/1 99 250 199 51 0.2 exonic rs78778235 PABPC3 AU nonsynonymous SNV NM_030979 exon1 c.A1336G p.S446G 0.0048 0.0006 0.88 T 1.000 N -0.976 T 0.0 T 0.0 T Pathogenic 13_25671679_T->C 13 25671679 25671679 T C snp 249.77 0/1 99 250 205 45 0.18 exonic rs112901832 PABPC3 AU nonsynonymous SNV NM_030979 exon1 c.T1343C p.I448T 0.0021 0.0006 0.13 T 0.707 N -1.044 T 0.005 T 0.004 T Pathogenic 13_25671688_G->C 13 25671688 25671688 G C snp 211.77 0/1 99 250 210 40 0.16 exonic rs113617207 PABPC3 AU nonsynonymous SNV NM_030979 exon1 c.G1352C p.G451A 0.0011 0.0006 0.54 T 1.000 N -0.962 T 0.0 T 0.0 T ID=COSM1194731;OCCURENCE=1(lung) Pathogenic 13_25671699_G->C 13 25671699 25671699 G C snp 59.77 0/1 88 250 216 34 0.14 exonic rs201614365 PABPC3 AU nonsynonymous SNV NM_030979 exon1 c.G1363C p.V455L 0.0002 0 0.66 T 1.000 N -0.983 T 0.0 T 0.0 T Pathogenic 13_25671742_G->A 13 25671742 25671742 G A snp 34.77 0/1 63 250 219 31 0.12 exonic rs140135080 PABPC3 AU nonsynonymous SNV NM_030979 exon1 c.G1406A p.R469Q 0.0321 0.0314 0.67 T 0.991 D -1.027 T 0.001 T 0.002 T Pathogenic 13_25672111_T->C 13 25672111 25672111 T C snp 37.77 0/1 66 126 113 13 0.1 exonic PABPC3 AU nonsynonymous SNV NM_030979 exon1 c.T1775C p.L592P 0 D 1 D -0.217 T 0.999 D 0.978 D Pathogenic 13_25672126_C->T 13 25672126 25672126 C T snp 68.77 0/1 97 133 115 18 0.14 exonic PABPC3 AU nonsynonymous SNV NM_030979 exon1 c.C1790T p.S597L 0.32 T 1.000 D -1.025 T 0.349 T 0.645 T Pathogenic 13_25672135_C->A 13 25672135 25672135 C A snp 74.77 0/1 99 133 114 19 0.14 exonic PABPC3 AU nonsynonymous SNV NM_030979 exon1 c.C1799A p.S600Y 0 D 1.000 D -0.806 T 0.514 P 0.228 P Pathogenic 13_25672139_G->A 13 25672139 25672139 G A snp 80.77 0/1 99 133 111 22 0.17 exonic PABPC3 AU synonymous SNV NM_030979 exon1 c.G1803A p.K601K Uncertain 13_25672158_G->A 13 25672158 25672158 G A snp 76.77 0/1 99 160 136 24 0.15 exonic PABPC3 AU nonsynonymous SNV NM_030979 exon1 c.G1822A p.V608I 0 D 0.999 D -0.500 T 0.909 T 0.863 D Pathogenic 13_25672168_C->T 13 25672168 25672168 C T snp 82.77 0/1 99 159 135 24 0.15 exonic PABPC3 AU nonsynonymous SNV NM_030979 exon1 c.C1832T p.A611V 0.15 T 1.000 D -1.029 T 0.223 T 0.064 T Pathogenic 13_25672172_C->T 13 25672172 25672172 C T snp 76.77 0/1 99 162 138 24 0.15 exonic PABPC3 AU synonymous SNV NM_030979 exon1 c.C1836T p.H612H Uncertain 13_25672177_C->T 13 25672177 25672177 C T snp 64.77 0/1 93 165 141 24 0.15 exonic PABPC3 AU nonsynonymous SNV NM_030979 exon1 c.C1841T p.A614V 0.17 T 0.999 D -1.104 T 0.009 T 0.011 T Pathogenic 13_25672188_A->T 13 25672188 25672188 A T snp 67.77 0/1 96 168 144 24 0.14 exonic PABPC3 AU nonsynonymous SNV NM_030979 exon1 c.A1852T p.T618S 0.28 T 0.999 N -1.062 T 0.0 T 0.001 T Pathogenic 13_25672208_T->C 13 25672208 25672208 T C snp 56.77 0/1 85 163 140 23 0.14 exonic PABPC3 AU synonymous SNV NM_030979 exon1 c.T1872C p.S624S Uncertain 13_25672211_T->C 13 25672211 25672211 T C snp 41.77 0/1 70 160 140 20 0.13 exonic PABPC3 AU synonymous SNV NM_030979 exon1 c.T1875C p.A625A Uncertain 13_25672214_C->T 13 25672214 25672214 C T snp 50.77 0/1 79 160 141 19 0.12 exonic PABPC3 AU synonymous SNV NM_030979 exon1 c.C1878T p.T626T Uncertain 13_25802491_A->G 13 25802491 25802491 A G snp 1131.77 1/1 84 29 0 29 1.0 intergenic rs4770813 LINC01053 AU 0.953674 0.999 Uncertain 13_25808286_A->C 13 25808286 25808286 A C snp 1220.77 1/1 90 37 0 37 1.0 intergenic rs9551188 LINC01053 AU 0.198083 0.2103 Uncertain 13_25823441_C->T 13 25823441 25823441 C T snp 1854.77 0/1 99 234 156 78 0.33 exonic rs62619824 MTMR6 AU nonsynonymous SNV NM_004685 exon14 c.G1795A p.A599T 0.0571086 0.0188 0.064278 0.0763 0.0224 0.42 T 1.000 N -0.928 T 0.0 T 0.001 T Pathogenic 13_25823451_A->G 13 25823451 25823451 A G snp 1986.77 0/1 99 237 155 82 0.35 exonic rs17082035 MTMR6 AU synonymous SNV NM_004685 exon14 c.T1785C p.Y595Y 0.0579073 0.0188 0.065047 0.0765 0.0224 Uncertain 13_25832083_AAAT->- 13 25832083 25832086 AAAT - indel 231.73 0/1 99 16 10 6 0.38 intronic rs142779718 MTMR6 AU NM_004685 exon7 c.8614+100_8614+103delAAAT 0.0571086 0.0188 Uncertain 13_25832832_TAAAAT->- 13 25832832 25832837 TAAAAT - indel 1202.73 0/1 99 39 21 18 0.46 splicing rs149367120 MTMR6 AU NM_004685 exon8 c.9461+2_9461+7delTAAAAT 0.0565096 0.0188 0.059313 0.0793 0.0236 Pathogenic 13_25836053_G->A 13 25836053 25836053 G A snp 194.77 0/1 99 12 5 7 0.58 intronic rs41290732 MTMR6 AU NM_004685 exon9 c.12571+113G>A 0.0567093 0.0198 Uncertain 13_25840496_T->A 13 25840496 25840496 T A snp 147.77 0/1 99 9 4 5 0.56 intronic rs75290152 MTMR6 AU NM_004685 exon11 c.17055+72T>A 0.0567093 0.0188 Uncertain 13_25848404_A->C 13 25848404 25848404 A C snp 99.28 1/1 9 3 0 3 1.0 intronic rs4387458 MTMR6 AU NM_004685 exon13 c.24956+79A>C 0.91893 1 Uncertain 13_25861577_A->G 13 25861577 25861577 A G snp 491.77 0/1 99 38 21 17 0.45 UTR5 rs3809335 MTMR6 AU 0.138978 0.1944 Uncertain 13_25876011_G->A 13 25876011 25876011 G A snp 2815.77 0/1 99 249 126 123 0.49 exonic rs11556093 NUPL1 AU nonsynonymous SNV NM_001008564 exon1 c.G100A p.A34T 0.367212 0.5585 0.398339 0.4940 0.6072 1 T 0.847 P -0.926 T 0.001 T 0.001 T Pathogenic 13_25886932_A->G 13 25886932 25886932 A G snp 1090.77 1/1 81 31 0 31 1.0 intronic rs4341628 NUPL1 AU NM_014089 exon4 c.11109-88A>G 0.943091 1 Uncertain 13_25893364_TTTATA->- 13 25893364 25893369 TTTATA - indel 2311.73 1/1 81 27 0 27 1.0 intronic rs201328462 NUPL1 AU NM_014089 exon7 c.17552-99_17552-94delTTTATA 0.787939 0.9177 Uncertain 13_25901781_A->C 13 25901781 25901781 A C snp 396.77 1/1 30 11 0 11 1.0 intronic rs7997070 NUPL1 AU NM_014089 exon12 c.25739+131A>C 0.91893 1 Uncertain 13_25905416_T->C 13 25905416 25905416 T C snp 264.8 1/1 21 7 0 7 1.0 intronic rs9553582 NUPL1 AU NM_014089 exon13 c.29583-78T>C 0.955072 1 Uncertain 13_25911051_T->- 13 25911051 25911051 T - indel 57.73 0/1 95 23 14 9 0.39 intronic rs75002041 NUPL1 AU NM_014089 exon14 c.35162-22delT 0.4171 0.4187 Uncertain 13_25946228_G->C 13 25946228 25946228 G C snp 231.77 0/1 99 13 5 8 0.62 UTR5 ATP8A2 AR Uncertain 13_26043182_A->C 13 26043182 26043182 A C snp 2761.77 0/1 99 248 133 115 0.46 exonic rs7317185 ATP8A2 AR synonymous SNV NM_016529 exon2 c.A144C p.G48G 0.204073 0.119 0.241200 0.1913 0.0900 0.65 T 1.0 P -0.946 T CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000116457.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Likely benign 13_26104547_G->A 13 26104547 26104547 G A snp 215.77 0/1 99 17 8 9 0.53 intronic rs9581376 ATP8A2 AR NM_016529 exon4 c.158349-152G>A 0.515575 0.127 Uncertain 13_26107595_C->T 13 26107595 26107595 C T snp 777.77 0/1 99 67 31 36 0.54 intronic rs7319869 ATP8A2 AR NM_016529 exon6 c.161101+144C>T 0.516174 0.128 Uncertain 13_26107596_T->G 13 26107596 26107596 T G snp 813.77 0/1 99 65 29 36 0.55 intronic rs7325436 ATP8A2 AR NM_016529 exon6 c.161101+145T>G 0.516174 0.128 Uncertain 13_26107606_C->T 13 26107606 26107606 C T snp 786.77 0/1 99 59 25 34 0.58 intronic rs7319993 ATP8A2 AR NM_016529 exon6 c.161101+155C>T 0.516174 0.128 Uncertain 13_26108400_C->T 13 26108400 26108400 C T snp 1869.77 0/1 99 160 80 80 0.5 intronic rs10492697 ATP8A2 AR NM_016529 exon6 c.161101+949C>T 0.0916534 0.1121 0.064223 0.0610 0.0919 Uncertain 13_26108557_G->A 13 26108557 26108557 G A snp 217.77 0/1 99 15 7 8 0.53 intronic rs4257084 ATP8A2 AR NM_016529 exon6 c.161101+1106G>A 0.398962 0.122 Uncertain 13_26111951_A->C 13 26111951 26111951 A C snp 188.77 0/1 99 10 4 6 0.6 intronic rs17728392 ATP8A2 AR NM_016529 exon7 c.165775-174A>C 0.090655 0.1121 Uncertain 13_26125731_T->C 13 26125731 26125731 T C snp 194.77 0/1 99 32 20 12 0.38 intronic rs9581389 ATP8A2 AR NM_016529 exon11 c.179291+90T>C 0.522764 0.128 Uncertain 13_26127821_G->C 13 26127821 26127821 G C snp 432.77 0/1 99 30 16 14 0.47 intronic rs9740054 ATP8A2 AR NM_016529 exon12 c.181580-109G>C 0.39357 0.123 Uncertain 13_26127890_G->A 13 26127890 26127890 G A snp 2359.77 0/1 99 146 56 90 0.62 intronic rs12853449 ATP8A2 AR NM_016529 exon12 c.181580-40G>A 0.0950479 0.1121 0.064706 0.0591 0.0860 Uncertain 13_26128128_C->A 13 26128128 26128128 C A snp 1477.77 0/1 99 113 55 58 0.51 intronic rs7331675 ATP8A2 AR NM_016529 exon12 c.181708+70C>A 0.39357 0.123 Uncertain 13_26128129_A->G 13 26128129 26128129 A G snp 1476.77 0/1 99 111 54 57 0.51 intronic rs7332442 ATP8A2 AR NM_016529 exon12 c.181708+71A>G 0.522764 0.128 Uncertain 13_26133009_C->T 13 26133009 26133009 C T snp 153.77 0/1 99 9 4 5 0.56 intronic rs12862551 ATP8A2 AR NM_016529 exon14 c.186760-101C>T 0.400559 0.122 Uncertain 13_26137989_T->C 13 26137989 26137989 T C snp 247.77 0/1 99 17 9 8 0.47 intronic rs12871941 ATP8A2 AR NM_016529 exon16 c.191743-104T>C 0.69369 0.3323 Uncertain 13_26148727_A->G 13 26148727 26148727 A G snp 254.77 0/1 99 17 7 10 0.59 intronic rs12854617 ATP8A2 AR NM_016529 exon19 c.202595-218A>G 0.388179 0.1329 Uncertain 13_26148966_C->T 13 26148966 26148966 C T snp 1459.77 0/1 99 98 37 61 0.62 exonic rs6491066 ATP8A2 AR synonymous SNV NM_016529 exon19 c.C1683T p.F561F 0.536342 0.1409 0.708319 0.6287 0.1018 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000116458.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 13_26273385_G->C 13 26273385 26273385 G C snp 3752.77 1/1 99 140 0 140 1.0 exonic rs6491088 ATP8A2 AR synonymous SNV NM_016529 exon25 c.G2286C p.L762L 0.98742 1 0.989824 0.9973 1 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000116459.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 13_26273538_C->T 13 26273538 26273538 C T snp 666.77 0/1 99 51 26 25 0.49 intronic rs2296003 ATP8A2 AR NM_016529 exon25 c.327133+55C>T 0.805312 0.6448 Uncertain 13_26411562_CACACA->- 13 26411562 26411567 CACACA - indel 477.74 1/1 27 22 0 22 1.0 intronic ATP8A2 AR NM_016529 exon29 c.465073+139_465073+144delCACACA Uncertain 13_26411631_G->C 13 26411631 26411631 G C snp 171.9 1/1 15 5 0 5 1.0 intronic rs2419341 ATP8A2 AR NM_016529 exon29 c.465073+208G>C 0.483227 0.5595 Uncertain 13_26436641_C->T 13 26436641 26436641 C T snp 1325.77 1/1 96 47 0 47 1.0 intronic rs2249800 ATP8A2 AR NM_016529 exon33 c.490196+95C>T 0.503195 0.5546 Uncertain 13_26501227_C->T 13 26501227 26501227 C T snp 2213.77 1/1 99 82 0 82 1.0 intronic rs1185907 ATP8A2 AR NM_016529 exon34 c.589362-34485C>T 0.860423 0.996 0.8757 0.9904 Uncertain 13_26535625_G->A 13 26535625 26535625 G A snp 1005.77 1/1 72 34 0 34 1.0 intronic rs9511998 ATP8A2 AR NM_016529 exon34 c.589362-87G>A 0.985224 1 Uncertain 13_26586775_C->T 13 26586775 26586775 C T snp 429.77 0/1 99 56 33 23 0.41 intronic rs2274135 ATP8A2 AR NM_016529 exon36 c.640410+15C>T 0.534545 0.7381 0.444691 0.4948 0.7843 Uncertain 13_26620777_G->A 13 26620777 26620777 G A snp 5746.77 1/1 99 202 0 202 1.0 exonic rs77556088 SHISA2 AU synonymous SNV NM_001007538 exon2 c.C762T p.H254H 0.110823 0.2351 0.020990 0.0483 0.2306 Uncertain 13_26620924_G->A 13 26620924 26620924 G A snp 7168.77 1/1 99 250 0 250 1.0 exonic rs77010561 SHISA2 AU synonymous SNV NM_001007538 exon2 c.C615T p.N205N 0.110423 0.2351 0.020837 0.0483 0.2309 Uncertain 13_26620978_G->T 13 26620978 26620978 G T snp 4854.77 1/1 99 180 0 180 1.0 exonic rs74965018 SHISA2 AU synonymous SNV NM_001007538 exon2 c.C561A p.S187S 0.129393 0.2351 0.040981 0.0537 0.2307 Uncertain 13_26959593_T->G 13 26959593 26959593 T G snp 135.03 1/1 12 4 0 4 1.0 intronic rs7327769 CDK8 AU NM_001260 exon6 c.130701+114T>G 0.376398 0.5437 Uncertain 13_26974562_G->A 13 26974562 26974562 G A snp 5359.77 1/1 99 180 0 180 1.0 intronic rs998692 CDK8 AU NM_001260 exon10 c.145811-27G>A 0.746006 0.9296 0.757804 0.8530 0.9292 Uncertain 13_27246216_T->C 13 27246216 27246216 T C snp 180.9 1/1 15 6 0 6 1.0 intronic rs1276045 WASF3 AU NM_006646 exon6 c.29719+90T>C 0.342452 0.5714 Uncertain 13_27250945_A->G 13 27250945 27250945 A G snp 541.77 1/1 42 16 0 16 1.0 intronic rs3794413 WASF3 AU NM_006646 exon7 c.34454+84A>G 0.310703 0.5685 Uncertain 13_27643597_C->T 13 27643597 27643597 C T snp 736.77 0/1 99 69 31 38 0.55 intronic rs9512534 USP12 AU NM_182488 exon1 c.102+76C>T 0.44349 0.5605 Uncertain 13_27664139_A->T 13 27664139 27664139 A T snp 63.77 0/1 92 14 9 5 0.36 intronic rs41300570 USP12 AU NM_182488 exon4 c.20684+36A>T 0.0509185 0.0655 0.040840 0.0543 0.0658 Uncertain 13_27829310_G->A 13 27829310 27829310 G A snp 2315.77 1/1 99 80 0 80 1.0 ncRNA_intronic rs3094293 RPL21P28 AU 0.984026 1 0.986218 0.9951 1 Uncertain 13_27845284_C->A 13 27845284 27845284 C A snp 485.77 0/1 99 47 23 24 0.51 intronic rs9507866 RASL11A AU NM_206827 exon1 c.124+79C>A 0.531749 0.5873 Uncertain 13_27845340_G->C 13 27845340 27845340 G C snp 197.9 0/1 15 7 1 6 0.86 intronic rs9507867 RASL11A AU NM_206827 exon1 c.124+135G>C 0.523562 0.5873 Uncertain 13_27997986_C->- 13 27997986 27997986 C - indel 6076.73 1/1 99 136 0 136 1.0 upstream rs33932496 GTF3A AU 0.671725 0.7431 Uncertain 13_28009920_G->C 13 28009920 28009920 G C snp 2033.77 1/1 99 74 0 74 1.0 exonic rs1218825 MTIF3 AU nonsynonymous SNV NM_001166261 exon5 c.C729G p.F243L 0.816893 0.5794 0.941258 0.8806 0.5348 1 T 0.0 P -0.961 T 0.0 T 0.0 T Pathogenic 13_28142023_AAAC->- 13 28142023 28142026 AAAC - indel 610.73 0/1 99 35 14 21 0.6 intronic rs149452064 LNX2 AU NM_153371 exon7 c.19505+47_19505+50delAAAC 0.0279553 0.1329 0.001038 0.0115 0.1528 Uncertain 13_28143229_A->G 13 28143229 28143229 A G snp 1635.77 0/1 99 119 53 66 0.55 exonic rs8002697 LNX2 AU nonsynonymous SNV NM_153371 exon3 c.T592C p.S198P 0.529752 0.4613 0.589574 0.5212 0.4664 0.53 T 0.000 P -1.065 T 0.0 T 0.0 T Pathogenic 13_28197436_C->T 13 28197436 28197436 C T snp 505.77 0/1 99 29 12 17 0.59 UTR3 rs7097 POLR1D AD 0.329273 0.4732 0.282750 0.3970 0.4702 ID=CR115454;DIS=Diffuse large B-cell lymphoma, reduced risk;TAG=DP;PUB=21471979 DP Uncertain 13_28367061_A->G 13 28367061 28367061 A G snp 3454.77 1/1 99 121 0 121 1.0 exonic rs1231058 GSX1 AU synonymous SNV NM_145657 exon1 c.A234G p.L78L 0.916933 0.997 0.869276 0.8428 1 Uncertain 13_28367275_G->C 13 28367275 28367275 G C snp 503.77 0/1 99 54 32 22 0.41 intronic rs3742112 GSX1 AU NM_145657 exon1 c.412+36G>C 0.339856 0.2917 0.311681 0.4152 0.3639 Uncertain 13_28367956_C->T 13 28367956 28367956 C T snp 2121.77 0/1 99 179 89 90 0.5 exonic rs3742111 GSX1 AU synonymous SNV NM_145657 exon2 c.C666T p.G222G 0.0734824 0.0893 0.020535 0.0415 0.1058 Uncertain 13_28498325_G->T 13 28498325 28498325 G T snp 103.77 0/1 58 8 2 6 0.75 intronic rs75034644 PDX1 AU,AD,AR NM_000209 exon2 c.4117-67G>T 0.121206 0.0843 Uncertain 13_28519354_A->C 13 28519354 28519354 A C snp 2440.77 1/1 99 72 0 72 1.0 ncRNA_exonic rs2504220 ATP5EP2 AU 0.759784 0.8085 0.8449 0.8027 Uncertain 13_28537242_A->C 13 28537242 28537242 A C snp 1280.77 1/1 93 42 0 42 1.0 UTR3 rs1805108 CDX2 AU 0.726238 0.8155 0.707673 0.8024 0.8150 Uncertain 13_28537317_G->A 13 28537317 28537317 G A snp 2236.77 1/1 99 83 0 83 1.0 exonic rs1805107 CDX2 AU nonsynonymous SNV NM_001265 exon3 c.C877T p.P293S 0.725639 0.8155 0.708135 0.8022 0.8157 0.35 T 0.008 P -0.929 T 0.437 T 0.08 T Pathogenic 13_28537537_T->G 13 28537537 28537537 T G snp 3799.77 1/1 99 149 0 149 1.0 intronic rs2504212 CDX2 AU NM_001265 exon1 c.255+31T>G 0.806909 0.8145 0.796978 0.8187 0.8163 Uncertain 13_28539185_T->A 13 28539185 28539185 T A snp 2371.77 1/1 99 91 0 91 1.0 intronic rs2481953 CDX2 AU NM_001265 exon2 c.1901+33T>A 0.695088 0.8085 0.675073 0.7822 0.8123 Uncertain 13_28541583_T->G 13 28541583 28541583 T G snp 1299.77 1/1 96 40 0 40 1.0 intronic rs2481967 CDX2 AU NM_001265 exon3 c.5351-1019T>G 0.805711 0.8194 Uncertain 13_28589662_C->G 13 28589662 28589662 C G snp 442.77 1/1 36 16 0 16 1.0 intronic rs4497507 FLT3 AU NM_004119 exon4 c.11538-64C>G 0.851238 1 Uncertain 13_28602227_AG->- 13 28602227 28602228 AG - indel 1564.73 1/1 99 42 1 41 0.98 intronic rs35884842 FLT3 AU NM_004119 exon9 c.24126-87_24126-86delAG 0.767173 0.871 Uncertain 13_28607916_T->A 13 28607916 28607916 T A snp 563.77 1/1 42 15 0 15 1.0 intronic rs2491222 FLT3 AU NM_004119 exon10 c.29835-107T>A 0.570687 0.7302 Uncertain 13_28607989_T->G 13 28607989 28607989 T G snp 3335.77 1/1 99 120 1 119 0.99 intronic rs2491223 FLT3 AU NM_004119 exon10 c.29835-34T>G 0.578674 0.7302 0.635783 0.7036 0.7421 Uncertain 13_28609825_A->G 13 28609825 28609825 A G snp 3500.77 1/1 99 109 0 109 1.0 intronic rs2491227 FLT3 AU NM_004119 exon13 c.31622+15A>G 0.563099 0.7351 0.616408 0.7014 0.7430 Uncertain 13_28609846_A->T 13 28609846 28609846 A T snp 2748.77 1/1 99 82 2 80 0.98 intronic rs2491228 FLT3 AU NM_004119 exon13 c.31622+36A>T 0.563099 0.7351 0.616562 0.7029 0.7436 Uncertain 13_28609991_T->C 13 28609991 28609991 T C snp 1244.77 1/1 93 35 0 35 1.0 intronic rs2491229 FLT3 AU NM_004119 exon14 c.31883-80T>C 0.563099 0.7351 Uncertain 13_28609997_T->C 13 28609997 28609997 T C snp 1467.77 1/1 99 43 0 43 1.0 intronic rs2491230 FLT3 AU NM_004119 exon14 c.31883-74T>C 0.563099 0.7351 Uncertain 13_28610183_A->G 13 28610183 28610183 A G snp 2621.77 1/1 99 93 0 93 1.0 splicing rs2491231 FLT3 AU NM_004119 exon14 c.31992+3A>G 0.563299 0.7351 0.616408 0.6993 0.7435 Pathogenic 13_28622356_G->A 13 28622356 28622356 G A snp 3578.77 1/1 99 129 0 129 1.0 intronic rs2153000 FLT3 AU NM_004119 exon16 c.44223-55G>A 0.837061 0.9712 Uncertain 13_28624294_G->A 13 28624294 28624294 G A snp 6839.77 1/1 99 250 0 250 1.0 exonic rs1933437 FLT3 AU nonsynonymous SNV NM_004119 exon6 c.C680T p.T227M 0.558706 0.7688 0.522913 0.5988 0.7669 0.15 T 0.491 P -0.903 T 0.999 D 0.879 D CLINSIG=untested;CLNDBN=not_specified;CLNREVSTAT=no_assertion_provided;CLNACC=RCV000121129.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 13_28631403_G->A 13 28631403 28631403 G A snp 567.77 0/1 99 61 38 23 0.38 intronic rs3751392 FLT3 AU NM_004119 exon21 c.53295-80G>A 0.0587061 0.246 Uncertain 13_28636084_G->A 13 28636084 28636084 G A snp 3063.77 1/1 99 114 0 114 1.0 exonic rs7338903 FLT3 AU synonymous SNV NM_004119 exon3 c.C288T p.D96D 0.958067 0.996 0.959942 0.9827 0.9986 Uncertain 13_28644510_C->A 13 28644510 28644510 C A snp 609.77 1/1 45 20 0 20 1.0 intronic rs2387350 FLT3 AU NM_004119 exon23 c.66439-117C>A 0.994209 1 Uncertain 13_28647490_AA->- 13 28647490 28647491 AA - indel 1012.73 ./1 99 64 4 60 0.94 intronic rs199898517 FLT3 AU NM_004119 exon23 c.66561+2741_66561+2742delAA 0.1835 0.175 Uncertain 13_28647490_A->- 13 28647490 28647490 A - indel 1012.73 ./1 99 64 4 60 0.94 intronic rs35318238 FLT3 AU NM_004119 exon23 c.66561+2741delA 0.675519 0.8075 0.3676 0.3275 Uncertain 13_28647741_T->A 13 28647741 28647741 T A snp 56.74 1/1 6 2 0 2 1.0 intronic rs11149513 FLT3 AU NM_004119 exon23 c.66561+2992T>A 0.673522 0.7976 Uncertain 13_28674628_T->C 13 28674628 28674628 T C snp 318.77 0/1 99 29 15 14 0.48 exonic rs12872889 FLT3 AU nonsynonymous SNV NM_004119 exon1 c.A20G p.D7G 0.373602 0.3304 0 . 0.69 T 0.000 P -0.943 T 0.0 T 0.0 T ID=COSM4147677;OCCURENCE=1(thyroid) Pathogenic 13_28835527_-->C 13 28835527 28835527 - C indel 461.73 1/1 33 11 0 11 1.0 intronic rs5802469 PAN3 AU NM_175854 exon9 c.122743-10insC 0.995208 1 0.998162 0.9994 1 Uncertain 13_28882948_G->A 13 28882948 28882948 G A snp 889.77 1/1 63 35 0 35 1.0 intronic rs9579177 FLT1 AU NM_002019 exon3 c.5676-31G>A 0.73103 1 0.647240 0.7921 0.9985 Uncertain 13_28883061_G->A 13 28883061 28883061 G A snp 583.77 1/1 42 22 0 22 1.0 exonic rs7993418 FLT1 AU synonymous SNV NM_002019 exon28 c.C3639T p.Y1213Y 0.730831 1 0.646548 0.7921 0.9985 Uncertain 13_28885672_C->T 13 28885672 28885672 C T snp 307.78 1/1 24 8 0 8 1.0 intronic rs4771238 FLT1 AU NM_002019 exon4 c.8423-54C>T 0.98103 1 Uncertain 13_28886113_A->G 13 28886113 28886113 A G snp 470.77 1/1 36 14 0 14 1.0 intronic rs7328692 FLT1 AU NM_002019 exon5 c.8826-16A>G 0.974042 1 0.975088 0.9929 1 Uncertain 13_28893484_T->C 13 28893484 28893484 T C snp 248.8 1/1 21 9 0 9 1.0 intronic rs2296188 FLT1 AU NM_002019 exon7 c.16256-75T>C 0.648962 0.7004 Uncertain 13_28919462_T->C 13 28919462 28919462 T C snp 99.28 1/1 9 3 0 3 1.0 intronic rs2296192 FLT1 AU NM_002019 exon15 c.42278-119T>C 0.85623 0.9742 Uncertain 13_28958955_C->A 13 28958955 28958955 C A snp 1134.77 1/1 87 34 0 34 1.0 intronic rs3751395 FLT1 AU NM_001160030 exon2 c.16307-66C>A 0.597644 0.6081 Uncertain 13_28970917_C->T 13 28970917 28970917 C T snp 866.77 1/1 66 28 0 28 1.0 intronic rs7990486 FLT1 AU NM_001160030 exon4 c.28382-179C>T 0.941094 1 0.9749 1 Uncertain 13_28980150_-->G 13 28980150 28980150 - G indel 779.73 1/1 54 18 0 18 1.0 intronic rs5802481 FLT1 AU NM_001160030 exon5 c.37317+119insG 0.955671 1 Uncertain 13_29041593_G->T 13 29041593 29041593 G T snp 1196.77 1/1 87 44 0 44 1.0 intronic rs77616576 FLT1 AU NM_001160030 exon14 c.98943-64G>T 0.0111821 0.0556 Uncertain 13_29236489_C->T 13 29236489 29236489 C T snp 848.77 1/1 63 28 0 28 1.0 intronic rs1340815 POMP AR NM_015932 exon2 c.3225-57C>T 0.474641 0.5109 Uncertain 13_29238576_T->C 13 29238576 29238576 T C snp 1295.77 1/1 93 48 0 48 1.0 intronic rs3737528 POMP AR NM_015932 exon3 c.5324-69T>C 0.425319 0.5109 Uncertain 13_29274977_-->A 13 29274977 29274977 - A indel 710.75 1/1 24 21 1 20 0.95 UTR3 rs3831478 SLC46A3 AU 0.195288 0.3373 Uncertain 13_29275102_T->C 13 29275102 29275102 T C snp 1625.77 1/1 99 59 0 59 1.0 UTR3 rs947027 SLC46A3 AU 0.9998 1 0.999781 0.9999 1 Uncertain 13_29275129_C->T 13 29275129 29275129 C T snp 1812.77 1/1 93 65 1 64 0.98 UTR3 rs705423 SLC46A3 AU 0.525359 0.6726 0.5100 0.6592 Uncertain 13_29291886_A->G 13 29291886 29291886 A G snp 222.84 1/1 18 6 0 6 1.0 intronic rs1300235 SLC46A3 AU NM_001135919 exon6 c.16863-60A>G 0.9998 1 Uncertain 13_29674755_C->T 13 29674755 29674755 C T snp 43.77 0/1 57 4 2 2 0.5 intronic rs3751402 MTUS2 AU NM_001033602 exon3 c.76104-154C>T 0.377796 0.5804 Uncertain 13_29674840_T->C 13 29674840 29674840 T C snp 604.77 0/1 99 60 37 23 0.38 intronic rs1536720 MTUS2 AU NM_001033602 exon3 c.76104-69T>C 0.561502 0.3313 Uncertain 13_29674855_A->G 13 29674855 29674855 A G snp 717.77 0/1 99 73 45 28 0.38 intronic rs1536719 MTUS2 AU NM_001033602 exon3 c.76104-54A>G 0.561502 0.3313 Uncertain 13_29675131_G->A 13 29675131 29675131 G A snp 605.77 0/1 99 28 8 20 0.71 intronic rs3829381 MTUS2 AU NM_001033602 exon3 c.76302+24G>A 0.369409 0.5407 0.275793 0.4216 0.6486 Uncertain 13_29855822_C->T 13 29855822 29855822 C T snp 2350.77 1/1 99 84 0 84 1.0 intronic rs3751335 MTUS2 AU NM_001033602 exon4 c.257035-18C>T 0.194688 0.3502 0.231717 0.3822 0.4796 Uncertain 13_29898768_A->C 13 29898768 29898768 A C snp 5587.77 1/1 99 195 1 194 0.99 exonic rs928661 MTUS2 AU nonsynonymous SNV NM_001033602 exon5 c.A2855C p.Q952P 0.770567 0.9097 0.772117 0.8564 0.9092 0.086 P -1.052 T 0.019 T 0.018 T Pathogenic 13_29898881_A->G 13 29898881 29898881 A G snp 5473.77 1/1 99 204 2 202 0.99 intronic rs928660 MTUS2 AU NM_001033602 exon5 c.300043+33A>G 0.765974 0.9087 0.759179 0.8463 0.9049 Uncertain 13_29898889_G->C 13 29898889 29898889 G C snp 5339.77 1/1 99 194 2 192 0.99 intronic rs928659 MTUS2 AU NM_001033602 exon5 c.300043+41G>C 0.75619 0.9087 0.757478 0.8396 0.9037 Uncertain 13_30014373_C->T 13 30014373 30014373 C T snp 438.77 0/1 99 28 12 16 0.57 intronic rs7337496 MTUS2 AU NM_015233 exon2 c.11207+187C>T 0.606629 0.4821 Uncertain 13_30075114_C->T 13 30075114 30075114 C T snp 3672.77 1/1 99 132 0 132 1.0 intronic rs882953 MTUS2 AU NM_015233 exon8 c.72254-119C>T 0.685703 0.9315 Uncertain 13_30077088_C->T 13 30077088 30077088 C T snp 2159.77 1/1 99 78 0 78 1.0 intronic rs2482096 MTUS2 AU NM_015233 exon9 c.74150-41C>T 0.716054 0.9375 0.689439 0.7610 0.9284 Uncertain 13_30090404_T->C 13 30090404 30090404 T C snp 3794.77 1/1 99 128 0 128 1.0 intronic rs2989592 SLC7A1 AU NM_003045 exon2 c.1767+21T>C 0.940495 0.9593 0.955937 0.9689 0.9469 Uncertain 13_30091516_T->C 13 30091516 30091516 T C snp 2834.77 1/1 99 99 0 99 1.0 intronic rs2490267 SLC7A1 AU NM_003045 exon3 c.2831+69T>C 0.939896 0.9593 Uncertain 13_30091714_G->A 13 30091714 30091714 G A snp 3658.77 1/1 99 132 0 132 1.0 exonic rs2482089 SLC7A1 AU synonymous SNV NM_003045 exon10 c.C1506T p.L502L 0.911342 0.9593 0.928725 0.9598 0.9466 Uncertain 13_30091819_G->C 13 30091819 30091819 G C snp 4726.77 1/1 99 180 0 180 1.0 exonic rs2482090 SLC7A1 AU synonymous SNV NM_003045 exon10 c.C1401G p.G467G 0.939896 0.9593 0.955405 0.9677 0.9467 Uncertain 13_30098215_C->T 13 30098215 30098215 C T snp 121.77 0/1 99 8 3 5 0.63 intronic rs2776957 SLC7A1 AU NM_003045 exon8 c.9652-53C>T 0.552915 0.3403 Uncertain 13_30098226_A->G 13 30098226 30098226 A G snp 354.78 1/1 27 10 0 10 1.0 intronic rs2776958 SLC7A1 AU NM_003045 exon8 c.9652-42A>G 0.937101 0.9613 0.953399 0.9671 0.9458 Uncertain 13_30107067_G->C 13 30107067 30107067 G C snp 2541.77 0/1 99 230 122 108 0.47 exonic rs2277451 SLC7A1 AU synonymous SNV NM_003045 exon4 c.C423G p.G141G 0.248802 0.6052 0.085499 0.1487 0.6113 Uncertain 13_30346188_A->C 13 30346188 30346188 A C snp 1273.77 0/1 99 119 68 51 0.43 intronic rs2234416 UBL3 AU NM_007106 exon3 c.4857-60A>C 0.292532 0.4415 Uncertain 13_30346393_TATAT->- 13 30346393 30346397 TATAT - indel 2565.73 0/1 99 69 30 39 0.57 intronic rs140223719 UBL3 AU NM_007106 exon3 c.4944+58_4944+62delTATAT 0.289537 0.3145 0.306738 Uncertain 13_30351248_-->A 13 30351248 30351248 - A indel 5453.73 1/1 99 139 0 139 1.0 intronic rs35681461 UBL3 AU NM_007106 exon4 c.9900-43insA 0.903355 0.9792 0.898882 0.9110 0.9776 Uncertain 13_30521992_A->C 13 30521992 30521992 A C snp 141.03 1/1 12 4 0 4 1.0 ncRNA_intronic rs503693 LINC00544 AU 0.771965 0.8591 Uncertain 13_30805627_A->G 13 30805627 30805627 A G snp 1452.77 1/1 99 51 0 51 1.0 intronic rs202087 KATNAL1 AU NM_001014380 exon5 c.22933+18A>G 0.88738 0.9514 0.886189 0.8888 0.9588 Uncertain 13_30814787_C->T 13 30814787 30814787 C T snp 345.77 0/1 99 21 8 13 0.62 intronic rs3803272 KATNAL1 AU NM_001014380 exon6 c.32026+85C>T 0.120008 0.3234 Uncertain 13_30815010_G->A 13 30815010 30815010 G A snp 580.77 0/1 99 39 20 19 0.49 intronic rs9550538 KATNAL1 AU NM_001014380 exon7 c.32419-85G>A 0.120008 0.3234 Uncertain 13_31036681_A->G 13 31036681 31036681 A G snp 4308.77 1/1 99 144 0 144 1.0 exonic rs1929606 HMGB1 AU synonymous SNV NM_002128 exon4 c.T465C p.Y155Y 0.972045 1 0.969783 0.9913 1 Uncertain 13_31287979_-->TA 13 31287979 31287979 - TA indel 3137.73 0/1 99 126 51 75 0.6 intergenic rs147763360 USPL1 AU 0.70028 0.7907 0.6771 0.6754 Uncertain 13_31309830_C->A 13 31309830 31309830 C A snp 632.77 0/1 99 68 37 31 0.46 intronic rs4769055 ALOX5AP AO NM_001629 exon1 c.70+18C>A 0.552915 0.5109 0.462633 0.4156 0.5353 Uncertain 13_31318020_G->A 13 31318020 31318020 G A snp 846.77 1/1 63 23 0 23 1.0 intronic rs4360791 ALOX5AP AO NM_001629 exon2 c.8454-176G>A 0.559305 0.6478 Uncertain 13_31318308_C->A 13 31318308 31318308 C A snp 1654.77 1/1 99 55 0 55 1.0 intronic rs3803277 ALOX5AP AO NM_001629 exon2 c.8554+12C>A 0.515575 0.6478 0.442257 0.4929 0.6388 Uncertain 13_31480827_A->G 13 31480827 31480827 A G snp 2718.77 1/1 99 106 0 106 1.0 exonic rs9531945 MEDAG AU nonsynonymous SNV NM_032849 exon1 c.A175G p.R59G 0.976438 1 0.980354 0.9943 1 1 T 0.0 P -0.944 T 0.0 T 0.0 T Pathogenic 13_31494941_C->T 13 31494941 31494941 C T snp 181.77 0/1 99 14 8 6 0.43 ncRNA_intronic rs2297396 TEX26-AS1 AU 0.22524 0.37 Uncertain 13_31496089_A->G 13 31496089 31496089 A G snp 77.77 0/1 99 7 4 3 0.43 ncRNA_intronic rs12583427 TEX26-AS1 AU 0.0491214 0.2014 Uncertain 13_31513931_T->A 13 31513931 31513931 T A snp 2067.77 0/1 99 160 76 84 0.53 intronic rs2225505 TEX26 AU NM_152325 exon2 c.7063+16T>A 0.410543 0.4464 0.380286 0.3750 0.4696 Uncertain 13_31531195_T->C 13 31531195 31531195 T C snp 2378.77 1/1 99 85 0 85 1.0 intronic rs6560988 TEX26 AU NM_152325 exon4 c.24314+29T>C 0.996006 1 0.996770 0.9991 1 Uncertain 13_31543095_C->T 13 31543095 31543095 C T snp 943.77 0/1 99 109 67 42 0.39 exonic rs2274869 TEX26 AU synonymous SNV NM_152325 exon6 c.C720T p.Y240Y 0.192692 0.126 0.209365 0.2565 0.1350 Uncertain 13_31715455_A->C 13 31715455 31715455 A C snp 338.77 0/1 99 32 15 17 0.53 intronic rs3761866 HSPH1 AU NM_001286504 exon6 c.3942+59A>C 0.347843 0.4752 Uncertain 13_31725374_T->C 13 31725374 31725374 T C snp 146.77 0/1 99 12 6 6 0.5 intronic rs3736861 HSPH1 AU NM_001286504 exon12 c.13874+46T>C 0.348842 0.4752 0.241411 0.2931 0.4633 Uncertain 13_31725617_C->T 13 31725617 31725617 C T snp 799.77 1/1 60 21 0 21 1.0 intronic rs2146895 HSPH1 AU NM_001286504 exon13 c.14291-128C>T 0.951677 0.9177 Uncertain 13_31728639_C->T 13 31728639 31728639 C T snp 454.77 0/1 99 20 7 13 0.65 intronic rs2274017 HSPH1 AU NM_001286504 exon15 c.17315-130C>T 0.347644 0.4752 0.3336 0.5046 Uncertain 13_31728666_G->A 13 31728666 31728666 G A snp 657.77 0/1 99 35 15 20 0.57 intronic rs2274018 HSPH1 AU NM_001286504 exon15 c.17315-103G>A 0.624201 0.4931 0.6862 0.5435 Uncertain 13_31728703_T->C 13 31728703 31728703 T C snp 1242.77 0/1 99 77 34 43 0.56 intronic rs2274019 HSPH1 AU NM_001286504 exon15 c.17315-66T>C 0.347244 0.4752 0.2961 0.4657 Uncertain 13_31729889_A->C 13 31729889 31729889 A C snp 40.77 0/1 69 7 5 2 0.29 intronic rs3818350 HSPH1 AU NM_001286504 exon16 c.18337+98A>C 0.347644 0.4752 Uncertain 13_31735759_G->A 13 31735759 31735759 G A snp 1853.77 0/1 99 158 73 85 0.54 UTR5 rs2280059 HSPH1 AU 0.252196 0.3681 0.187404 0.2698 0.4173 Uncertain 13_31789170_T->- 13 31789170 31789170 T - indel 195.73 0/1 46 18 4 14 0.78 intronic rs35344913 B3GALTL AU NM_194318 exon2 c.14966-17delT 0.6045 0.6061 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000152820.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 13_31796969_G->C 13 31796969 31796969 G C snp 3529.77 1/1 99 132 0 132 1.0 intronic rs2147515 B3GALTL AU NM_194318 exon3 c.22867-119G>C 0.965056 1 Uncertain 13_31797006_A->G 13 31797006 31797006 A G snp 1823.77 0/1 99 146 68 78 0.53 intronic rs3818415 B3GALTL AU NM_194318 exon3 c.22867-82A>G 0.264577 0.4633 Uncertain 13_31821088_-->T 13 31821088 31821088 - T indel 83.8 1/1 18 6 0 6 1.0 intronic rs556532817 B3GALTL AU NM_194318 exon5 c.46938-71insT 0.361422 0.4573 Uncertain 13_31821240_C->T 13 31821240 31821240 C T snp 2377.77 1/1 99 98 0 98 1.0 splicing rs9564692 B3GALTL AU NM_194318 exon5 c.47015+4C>T 0.503994 0.7123 0.332769 0.3988 0.7430 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000082787.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 13_31821992_T->C 13 31821992 31821992 T C snp 523.77 1/1 39 20 0 20 1.0 exonic rs4943266 B3GALTL AU synonymous SNV NM_194318 exon6 c.T348C p.H116H 0.975439 1 0.963994 0.9828 1 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000082788.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 13_31835375_G->A 13 31835375 31835375 G A snp 254.8 1/1 21 8 0 8 1.0 intronic rs4943289 B3GALTL AU NM_194318 exon7 c.60998+156G>A 0.505391 0.7083 Uncertain 13_31843321_A->- 13 31843321 31843321 A - indel 493.73 0/1 99 37 18 19 0.51 intronic rs281865462 B3GALTL AU NM_194318 exon8 c.69129-29delA 0.205471 0.2431 0.2191 0.2396 Uncertain 13_31843598_A->G 13 31843598 31843598 A G snp 585.77 0/1 99 38 14 24 0.63 intronic rs1924817 B3GALTL AU NM_194318 exon8 c.69193+184A>G 0.686302 0.747 Uncertain 13_31843664_A->G 13 31843664 31843664 A G snp 99.28 1/1 9 3 0 3 1.0 intronic rs1924818 B3GALTL AU NM_194318 exon8 c.69193+250A>G 0.948083 0.998 Uncertain 13_31848535_G->A 13 31848535 31848535 G A snp 947.77 1/1 69 31 0 31 1.0 intronic rs912600 B3GALTL AU NM_194318 exon9 c.74424-110G>A 0.928914 0.998 Uncertain 13_31848823_A->G 13 31848823 31848823 A G snp 584.77 0/1 99 46 25 21 0.46 intronic rs728930 B3GALTL AU NM_194318 exon9 c.74544+58A>G 0.203474 0.248 Uncertain 13_31850714_G->C 13 31850714 31850714 G C snp 1094.77 1/1 78 42 0 42 1.0 intronic rs1028751 B3GALTL AU NM_194318 exon10 c.76617-124G>C 0.928914 0.998 Uncertain 13_31850989_G->A 13 31850989 31850989 G A snp 428.77 0/1 99 24 9 15 0.63 intronic rs4065552 B3GALTL AU NM_194318 exon10 c.76687+81G>A 0.650958 0.751 Uncertain 13_31851059_A->G 13 31851059 31851059 A G snp 135.03 1/1 12 4 0 4 1.0 intronic rs1409373 B3GALTL AU NM_194318 exon10 c.76687+151A>G 0.914736 0.997 Uncertain 13_31860769_G->C 13 31860769 31860769 G C snp 99.28 1/1 9 4 0 4 1.0 intronic rs9543606 B3GALTL AU NM_194318 exon12 c.86635-87G>C 0.21865 0.2183 Uncertain 13_31861059_G->A 13 31861059 31861059 G A snp 40.77 0/1 69 5 3 2 0.4 intronic rs1397890 B3GALTL AU NM_194318 exon12 c.86735+103G>A 0.208267 0.2103 Uncertain 13_31891561_T->C 13 31891561 31891561 T C snp 915.77 1/1 69 27 0 27 1.0 intronic rs1041074 B3GALTL AU NM_194318 exon13 c.117481-141T>C 0.997204 1 Uncertain 13_31891746_G->A 13 31891746 31891746 G A snp 2363.77 0/1 99 172 68 104 0.6 exonic rs1041073 B3GALTL AU nonsynonymous SNV NM_194318 exon13 c.G1108A p.E370K 0.666733 0.7798 0.655390 0.7425 0.7885 0.28 T 0.999 P -0.913 T 0.964 D 0.472 D CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000082784.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 13_32339937_A->T 13 32339937 32339937 A T snp 56.74 1/1 6 2 0 2 1.0 intronic RXFP2 AU NM_130806 exon5 c.26343-155A>T Uncertain 13_32340193_-->A 13 32340193 32340193 - A indel 919.73 1/1 93 35 0 35 1.0 intronic rs35564049 RXFP2 AU NM_130806 exon5 c.26415+29insA 0.889776 0.9643 0.894690 0.9590 0.9590 Uncertain 13_32349017_A->G 13 32349017 32349017 A G snp 380.77 1/1 30 11 0 11 1.0 intronic rs3848100 RXFP2 AU NM_130806 exon6 c.35079+189A>G 0.304712 0.4683 Uncertain 13_32360349_C->T 13 32360349 32360349 C T snp 44.74 1/1 6 2 0 2 1.0 intronic rs1322575 RXFP2 AU NM_130806 exon12 c.46770-170C>T 0.633986 0.7768 Uncertain 13_32360547_A->G 13 32360547 32360547 A G snp 6283.77 1/1 99 248 1 247 1.0 exonic rs7325513 RXFP2 AU synonymous SNV NM_130806 exon12 c.A957G p.E319E 0.633786 0.7758 0.605413 0.6075 0.7767 Uncertain 13_32360691_-->AAA 13 32360691 32360691 - AAA indel 1525.73 1/1 99 59 1 58 0.98 intronic rs140904878 RXFP2 AU NM_130806 exon13 c.46953-11insAAA 0.161342 0.374 0.1138 0.3571 Uncertain 13_32376718_A->G 13 32376718 32376718 A G snp 96.28 1/1 9 3 0 3 1.0 UTR3 rs7338341 RXFP2 AU 0.58766 0.7698 Uncertain 13_32676114_A->G 13 32676114 32676114 A G snp 2141.77 0/1 99 172 80 92 0.53 exonic rs364995 FRY AU synonymous SNV NM_023037 exon3 c.A285G p.T95T 0.58147 0.4167 0.622162 0.6047 0.3820 Uncertain 13_32698266_C->T 13 32698266 32698266 C T snp 86.77 0/1 30 4 1 3 0.75 intronic rs185567105 FRY AU NM_023037 exon5 c.92490-156C>T 0.00419329 0.0139 Uncertain 13_32698544_T->C 13 32698544 32698544 T C snp 244.8 0/1 21 12 2 10 0.83 intronic rs629265 FRY AU NM_023037 exon5 c.92581+31T>C 0.470647 0.4117 0.481631 0.5615 0.4691 Uncertain 13_32721615_C->G 13 32721615 32721615 C G snp 1145.77 0/1 99 64 25 39 0.61 intronic rs2285330 FRY AU NM_023037 exon12 c.115590+93C>G 0.367412 0.4861 Uncertain 13_32723799_C->T 13 32723799 32723799 C T snp 560.77 1/1 42 14 0 14 1.0 intronic rs204558 FRY AU NM_023037 exon14 c.117952-85C>T 0.82488 0.9732 Uncertain 13_32758834_A->G 13 32758834 32758834 A G snp 2228.77 1/1 99 85 0 85 1.0 splicing rs798971 FRY AU NM_023037 exon25 c.152896+6A>G 0.821685 0.9762 0.761446 0.7885 0.9892 Pathogenic 13_32760476_C->A 13 32760476 32760476 C A snp 1490.77 0/1 99 130 61 69 0.53 exonic rs34413414 FRY AU synonymous SNV NM_023037 exon27 c.C3399A p.P1133P 0.0429313 0.1012 0.027644 0.0347 0.0858 Uncertain 13_32760578_G->A 13 32760578 32760578 G A snp 455.77 0/1 99 34 15 19 0.56 intronic rs545114857 FRY AU NM_023037 exon27 c.154625+21G>A 0.000199681 0.001 4.974e-05 0.0006 Uncertain 13_32776253_A->T 13 32776253 32776253 A T snp 1116.77 0/1 99 103 64 39 0.38 intronic rs2520704 FRY AU NM_023037 exon30 c.170245+76A>T 0.345647 0.1657 Uncertain 13_32776306_A->C 13 32776306 32776306 A C snp 510.77 0/1 99 41 24 17 0.41 intronic rs2762035 FRY AU NM_023037 exon30 c.170245+129A>C 0.346046 0.1657 Uncertain 13_32776318_T->C 13 32776318 32776318 T C snp 329.77 0/1 99 21 11 10 0.48 intronic rs2762036 FRY AU NM_023037 exon30 c.170245+141T>C 0.345847 0.1657 Uncertain 13_32776603_T->C 13 32776603 32776603 T C snp 1028.77 0/1 99 83 36 47 0.57 exonic rs2428249 FRY AU synonymous SNV NM_023037 exon31 c.T3957C p.L1319L 0.345847 0.1657 0.412042 0.3848 0.1631 Uncertain 13_32785086_G->A 13 32785086 32785086 G A snp 1799.77 0/1 99 159 73 86 0.54 exonic rs798981 FRY AU synonymous SNV NM_023037 exon34 c.G4506A p.E1502E 0.345647 0.1657 0.410202 0.3848 0.1633 Uncertain 13_32786416_T->A 13 32786416 32786416 T A snp 2271.77 0/1 99 250 143 107 0.43 intronic rs798983 FRY AU NM_023037 exon35 c.180496-12T>A 0.383187 0.1687 0.468771 0.4644 0.2240 Uncertain 13_32786614_A->G 13 32786614 32786614 A G snp 333.77 0/1 99 22 10 12 0.55 intronic rs798984 FRY AU NM_023037 exon35 c.180587+95A>G 0.346046 0.1657 Uncertain 13_32799236_A->G 13 32799236 32799236 A G snp 483.77 0/1 99 42 22 20 0.48 intronic rs12429612 FRY AU NM_023037 exon38 c.193241+63A>G 0.133387 0.0972 Uncertain 13_32799288_A->G 13 32799288 32799288 A G snp 236.77 0/1 99 14 5 9 0.64 intronic rs1029398 FRY AU NM_023037 exon38 c.193241+115A>G 0.297923 0.3403 Uncertain 13_32813256_A->C 13 32813256 32813256 A C snp 107.77 0/1 99 9 5 4 0.44 intronic rs2073995 FRY AU NM_023037 exon45 c.207456-132A>C 0.163139 0.2966 Uncertain 13_32823882_G->A 13 32823882 32823882 G A snp 1524.77 1/1 99 51 0 51 1.0 intronic rs2806630 FRY AU NM_023037 exon49 c.217892+58G>A 0.981829 1 Uncertain 13_32825913_A->G 13 32825913 32825913 A G snp 1744.77 0/1 99 169 96 73 0.43 intronic rs2806632 FRY AU NM_023037 exon50 c.220082-101A>G 0.461262 0.4792 Uncertain 13_32825941_C->A 13 32825941 32825941 C A snp 2573.77 0/1 99 238 128 110 0.46 intronic rs2806633 FRY AU NM_023037 exon50 c.220082-73C>A 0.454673 0.4792 Uncertain 13_32826186_G->A 13 32826186 32826186 G A snp 675.77 0/1 99 44 20 24 0.55 intronic rs2806634 FRY AU NM_023037 exon50 c.220157+97G>A 0.317692 0.4137 Uncertain 13_32828553_A->G 13 32828553 32828553 A G snp 439.77 0/1 99 37 21 16 0.43 intronic rs2157961 FRY AU NM_023037 exon51 c.222599+22A>G 0.459265 0.4841 0.486165 0.5374 0.5226 Uncertain 13_32832149_T->C 13 32832149 32832149 T C snp 727.77 0/1 99 104 66 38 0.37 intronic rs2520686 FRY AU NM_023037 exon52 c.229820-3603T>C 0.458666 0.4792 0.501570 0.5343 0.5084 Uncertain 13_32832350_A->G 13 32832350 32832350 A G snp 40.77 0/1 69 5 3 2 0.4 intronic rs2806636 FRY AU NM_023037 exon52 c.229820-3402A>G 0.458666 0.4792 Uncertain 13_32834538_-->TATCT 13 32834538 32834538 - TATCT indel 909.73 0/1 99 33 20 13 0.39 intronic rs3071314 FRY AU NM_023037 exon52 c.229820-1214insTATCT 0.660543 0.4861 Uncertain 13_32836311_C->A 13 32836311 32836311 C A snp 116.77 0/1 99 9 5 4 0.44 intronic rs148427969 FRY AU NM_023037 exon53 c.230518-139C>A 0.00439297 0.0208 Uncertain 13_32841159_G->T 13 32841159 32841159 G T snp 303.77 0/1 99 19 8 11 0.58 intronic FRY AU NM_023037 exon55 c.235374-147G>T Uncertain 13_32866221_A->G 13 32866221 32866221 A G snp 345.78 1/1 27 9 0 9 1.0 intronic rs6561216 FRY AU NM_023037 exon60 c.262572-2283A>G 0.900958 0.9841 Uncertain 13_32882912_-->T 13 32882912 32882912 - T indel 1606.73 1/1 99 59 0 59 1.0 intronic rs34528008 ZAR1L AU NM_001136571 exon2 c.4882+15insT 0.385783 0.4802 0.3573 0.4806 Uncertain 13_32883052_G->A 13 32883052 32883052 G A snp 1333.77 1/1 96 54 0 54 1.0 intronic rs206103 ZAR1L AU NM_001136571 exon2 c.4882+155G>A 0.390775 0.4861 Uncertain 13_32883129_A->G 13 32883129 32883129 A G snp 218.84 1/1 18 6 0 6 1.0 intronic rs206104 ZAR1L AU NM_001136571 exon2 c.4882+232A>G 0.390775 0.4861 Uncertain 13_32884653_G->T 13 32884653 32884653 G T snp 672.77 1/1 51 17 0 17 1.0 intronic rs206110 ZAR1L AU NM_001136571 exon3 c.6760-122G>T 0.625998 0.7371 Uncertain 13_32884771_T->C 13 32884771 32884771 T C snp 2319.77 1/1 99 85 0 85 1.0 splicing rs206111 ZAR1L AU NM_001136571 exon3 c.6760-4T>C 0.392173 0.4861 0.390933 0.3813 0.5 Pathogenic 13_32885654_T->C 13 32885654 32885654 T C snp 2155.77 1/1 99 75 0 75 1.0 exonic rs445909 ZAR1L AU nonsynonymous SNV NM_001136571 exon1 c.A409G p.T137A 0.391973 0.4851 0.3932 0.5070 0.95 T 0.0 P -0.963 T 0.005 T 0.005 T Pathogenic 13_32890572_G->A 13 32890572 32890572 G A snp 4458.77 1/1 99 181 0 181 1.0 UTR5 rs1799943 BRCA2 AR,AD,AO,AU 0.209265 0.3601 0.208827 0.2465 0.3805 CLINSIG=non-pathogenic|untested,non-pathogenic,non-pathogenic;CLNDBN=Breast-ovarian_cancer\x2c_familial_2|Familial_cancer_of_breast,Breast-ovarian_cancer\x2c_familial_2,Breast-ovarian_cancer\x2c_familial_2;CLNREVSTAT=no_assertion_criteria_provided|no_assertion_provided,no_assertion_criteria_provided,no_assertion_criteria_provided;CLNACC=RCV000112977.2|RCV000114981.1,RCV000112978.1,RCV000112979.1;CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet|GeneReviews:MedGen:OMIM:SNOMED_CT,GeneReviews:MedGen:OMIM:Orphanet,GeneReviews:MedGen:OMIM:Orphanet;CLNDSDBID=NBK1247:C2675520:612555:ORPHA145|NBK1247:C0346153:114480:254843006,NBK1247:C2675520:612555:ORPHA145,NBK1247:C2675520:612555:ORPHA145 ID=CR068211;DIS=Breast cancer, sporadic, protection against;TAG=DFP;PUB=17945002 DFP Uncertain 13_32900933_T->A 13 32900933 32900933 T A snp 44.77 0/1 31 3 1 2 0.67 intronic rs3752451 BRCA2 AR,AD,AO,AU NM_000059 exon7 c.10153+183T>A 0.348243 0.4643 Uncertain 13_32905265_G->A 13 32905265 32905265 G A snp 124.03 1/1 12 4 0 4 1.0 intronic rs206073 BRCA2 AR,AD,AO,AU NM_000059 exon9 c.14570+98G>A 0.974042 1 Uncertain 13_32911888_A->G 13 32911888 32911888 A G snp 5679.77 1/1 99 195 2 193 0.99 exonic rs1801406 BRCA2 AR,AD,AO,AU synonymous SNV NM_000059 exon11 c.A3396G p.K1132K 0.266773 0.3681 0.279837 0.2945 0.3848 CLINSIG=non-pathogenic,non-pathogenic|non-pathogenic|non-pathogenic|non-pathogenic;CLNDBN=Breast-ovarian_cancer\x2c_familial_2,Breast-ovarian_cancer\x2c_familial_2|Familial_cancer_of_breast|Hereditary_cancer-predisposing_syndrome|not_specified;CLNREVSTAT=no_assertion_criteria_provided,criteria_provided\x2c_single_submitter|criteria_provided\x2c_single_submitter|criteria_provided\x2c_single_submitter|criteria_provided\x2c_single_submitter;CLNACC=RCV000113169.1,RCV000113170.3|RCV000114982.2|RCV000130987.2|RCV000152873.2;CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet,GeneReviews:MedGen:OMIM:Orphanet|GeneReviews:MedGen:OMIM:SNOMED_CT|MedGen:SNOMED_CT|MedGen;CLNDSDBID=NBK1247:C2675520:612555:ORPHA145,NBK1247:C2675520:612555:ORPHA145|NBK1247:C0346153:114480:254843006|C0027672:699346009|CN169374 Uncertain 13_32913055_A->G 13 32913055 32913055 A G snp 5071.77 1/1 99 181 0 181 1.0 exonic rs206075 BRCA2 AR,AD,AO,AU synonymous SNV NM_000059 exon11 c.A4563G p.L1521L 0.974042 1 0.975773 0.9931 0.9999 CLINSIG=non-pathogenic,non-pathogenic|probable-non-pathogenic,non-pathogenic|non-pathogenic|non-pathogenic|non-pathogenic;CLNDBN=Breast-ovarian_cancer\x2c_familial_2,Familial_cancer_of_breast|Hereditary_cancer-predisposing_syndrome,Breast-ovarian_cancer\x2c_familial_2|Familial_cancer_of_breast|Hereditary_cancer-predisposing_syndrome|not_specified;CLNREVSTAT=no_assertion_criteria_provided,criteria_provided\x2c_single_submitter|criteria_provided\x2c_single_submitter,criteria_provided\x2c_single_submitter|criteria_provided\x2c_single_submitter|criteria_provided\x2c_single_submitter|criteria_provided\x2c_single_submitter;CLNACC=RCV000113321.1,RCV000160224.1|RCV000164515.1,RCV000119245.1|RCV000123972.2|RCV000132170.2|RCV000152875.3;CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet,GeneReviews:MedGen:OMIM:SNOMED_CT|MedGen:SNOMED_CT,GeneReviews:MedGen:OMIM:Orphanet|GeneReviews:MedGen:OMIM:SNOMED_CT|MedGen:SNOMED_CT|MedGen;CLNDSDBID=NBK1247:C2675520:612555:ORPHA145,NBK1247:C0346153:114480:254843006|C0027672:699346009,NBK1247:C2675520:612555:ORPHA145|NBK1247:C0346153:114480:254843006|C0027672:699346009|CN169374 Uncertain 13_32915005_G->C 13 32915005 32915005 G C snp 2283.77 1/1 99 81 0 81 1.0 exonic rs206076 BRCA2 AR,AD,AO,AU synonymous SNV NM_000059 exon11 c.G6513C p.V2171V 0.973642 1 0.975473 0.9930 0.9999 CLINSIG=untested,non-pathogenic|non-pathogenic|non-pathogenic|non-pathogenic,non-pathogenic|probable-non-pathogenic|unknown;CLNDBN=Breast-ovarian_cancer\x2c_familial_2,Breast-ovarian_cancer\x2c_familial_2|Familial_cancer_of_breast|not_specified|Hereditary_cancer-predisposing_syndrome,Familial_cancer_of_breast|Hereditary_cancer-predisposing_syndrome|not_specified;CLNREVSTAT=no_assertion_provided,criteria_provided\x2c_single_submitter|criteria_provided\x2c_single_submitter|criteria_provided\x2c_single_submitter|criteria_provided\x2c_single_submitter,criteria_provided\x2c_single_submitter|criteria_provided\x2c_single_submitter|no_assertion_criteria_provided;CLNACC=RCV000113602.1,RCV000119246.1|RCV000123985.2|RCV000152878.3|RCV000162377.1,RCV000160234.1|RCV000163332.1|RCV000168590.1;CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet,GeneReviews:MedGen:OMIM:Orphanet|GeneReviews:MedGen:OMIM:SNOMED_CT|MedGen|MedGen:SNOMED_CT,GeneReviews:MedGen:OMIM:SNOMED_CT|MedGen:SNOMED_CT|MedGen;CLNDSDBID=NBK1247:C2675520:612555:ORPHA145,NBK1247:C2675520:612555:ORPHA145|NBK1247:C0346153:114480:254843006|CN169374|C0027672:699346009,NBK1247:C0346153:114480:254843006|C0027672:699346009|CN169374 ID=COSM4147690;OCCURENCE=1(thyroid) Uncertain 13_32915411_AATT->- 13 32915411 32915414 AATT - indel 1517.73 1/1 66 27 0 27 1.0 intronic rs11571661 BRCA2 AR,AD,AO,AU NM_000059 exon11 c.24736+78_24736+81delAATT 0.265775 0.3681 CLINSIG=unknown;CLNDBN=Breast-ovarian_cancer\x2c_familial_2;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000113659.1;CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet;CLNDSDBID=NBK1247:C2675520:612555:ORPHA145 Uncertain 13_32929232_A->G 13 32929232 32929232 A G snp 3883.77 1/1 99 142 0 142 1.0 exonic rs1799955 BRCA2 AR,AD,AO,AU synonymous SNV NM_000059 exon14 c.A7242G p.S2414S 0.232628 0.369 0.211364 0.2244 0.3847 CLINSIG=non-pathogenic|non-pathogenic|non-pathogenic|non-pathogenic;CLNDBN=Breast-ovarian_cancer\x2c_familial_2|Familial_cancer_of_breast|Hereditary_cancer-predisposing_syndrome|not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter|criteria_provided\x2c_single_submitter|criteria_provided\x2c_single_submitter|criteria_provided\x2c_single_submitter;CLNACC=RCV000113739.3|RCV000123992.2|RCV000130994.2|RCV000152882.2;CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet|GeneReviews:MedGen:OMIM:SNOMED_CT|MedGen:SNOMED_CT|MedGen;CLNDSDBID=NBK1247:C2675520:612555:ORPHA145|NBK1247:C0346153:114480:254843006|C0027672:699346009|CN169374 Uncertain 13_32929387_T->C 13 32929387 32929387 T C snp 2759.77 1/1 99 99 0 99 1.0 exonic rs169547 BRCA2 AR,AD,AO,AU nonsynonymous SNV NM_000059 exon14 c.T7397C p.V2466A 0.975839 1 0.977696 0.9937 0.9999 1 T 0.0 P -0.930 T CLINSIG=non-pathogenic|unknown|non-pathogenic,non-pathogenic;CLNDBN=Familial_cancer_of_breast|Breast-ovarian_cancer\x2c_familial_2|not_specified,not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter|no_assertion_criteria_provided|no_assertion_criteria_provided,criteria_provided\x2c_single_submitter;CLNACC=RCV000045197.3|RCV000113751.1|RCV000168597.1,RCV000120357.3;CLNDSDB=GeneReviews:MedGen:OMIM:SNOMED_CT|GeneReviews:MedGen:OMIM:Orphanet|MedGen,MedGen;CLNDSDBID=NBK1247:C0346153:114480:254843006|NBK1247:C2675520:612555:ORPHA145|CN169374,CN169374 ID=CM960194;DIS=Breast cancer;TAG=DM?;PUB=8665505 DM? Pathogenic 13_32936646_T->C 13 32936646 32936646 T C snp 1809.77 1/1 99 63 1 62 0.98 intronic rs9534262 BRCA2 AR,AD,AO,AU NM_000059 exon17 c.46062-13T>C 0.53155 0.5337 0.520151 0.5208 0.5544 CLINSIG=non-pathogenic|non-pathogenic|non-pathogenic|non-pathogenic;CLNDBN=Breast-ovarian_cancer\x2c_familial_2|Familial_cancer_of_breast|Hereditary_cancer-predisposing_syndrome|not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter|criteria_provided\x2c_single_submitter|criteria_provided\x2c_single_submitter|criteria_provided\x2c_single_submitter;CLNACC=RCV000113823.2|RCV000124004.2|RCV000132168.1|RCV000152883.2;CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet|GeneReviews:MedGen:OMIM:SNOMED_CT|MedGen:SNOMED_CT|MedGen;CLNDSDBID=NBK1247:C2675520:612555:ORPHA145|NBK1247:C0346153:114480:254843006|C0027672:699346009|CN169374 ID=CS147979;DIS=Alternative splicing;TAG=FP;PUB=24123850 FP Uncertain 13_32949382_T->C 13 32949382 32949382 T C snp 172.9 1/1 15 6 0 6 1.0 intronic rs9534318 BRCA2 AR,AD,AO,AU NM_000059 exon21 c.60209-1424T>C 0.527556 0.5327 Uncertain 13_32949667_C->G 13 32949667 32949667 C G snp 245.77 0/1 99 27 16 11 0.41 intronic rs140570300 BRCA2 AR,AD,AO,AU NM_000059 exon21 c.60209-1139C>G 0.00419329 0.0198 Uncertain 13_32951111_A->C 13 32951111 32951111 A C snp 135.03 1/1 12 4 0 4 1.0 intronic rs3764791 BRCA2 AR,AD,AO,AU NM_000059 exon21 c.60331+183A>C 0.212859 0.3661 Uncertain 13_32951115_C->T 13 32951115 32951115 C T snp 99.28 1/1 9 3 0 3 1.0 intronic rs3764792 BRCA2 AR,AD,AO,AU NM_000059 exon21 c.60331+187C>T 0.225439 0.3661 Uncertain 13_32953388_T->C 13 32953388 32953388 T C snp 1020.77 1/1 75 34 0 34 1.0 intronic rs4942486 BRCA2 AR,AD,AO,AU NM_000059 exon22 c.62856-65T>C 0.511581 0.5327 CLINSIG=untested;CLNDBN=Breast-ovarian_cancer\x2c_familial_2;CLNREVSTAT=no_assertion_provided;CLNACC=RCV000113994.1;CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet;CLNDSDBID=NBK1247:C2675520:612555:ORPHA145 Uncertain 13_32981279_T->A 13 32981279 32981279 T A snp 473.77 1/1 36 12 0 12 1.0 intronic rs3752448 N4BP2L1 AU NM_052818 exon3 c.4308-107T>A 0.1873 0.3681 Uncertain 13_33017043_T->C 13 33017043 33017043 T C snp 1086.77 0/1 99 91 41 50 0.55 exonic rs3742318 N4BP2L2 AU nonsynonymous SNV NM_033111 exon7 c.A1631G p.N544S 0.263778 0.2292 0.205748 0.2416 0.1830 0.26 T 0.0 P -0.967 T 0.102 T 0.037 T Pathogenic 13_33052294_C->T 13 33052294 33052294 C T snp 508.77 0/1 99 31 15 16 0.52 intronic rs380627 N4BP2L2 AU NM_001278432 exon4 c.7745+34031C>T 0.755192 0.7946 Uncertain 13_33233159_A->G 13 33233159 33233159 A G snp 81.28 1/1 9 3 0 3 1.0 intronic rs573022 PDS5B AU NM_015032 exon6 c.10381-131A>G 0.304113 0.38 Uncertain 13_33268573_T->C 13 33268573 33268573 T C snp 216.84 1/1 18 6 0 6 1.0 intronic rs561056 PDS5B AU NM_015032 exon14 c.45532+132T>C 0.672324 0.5298 Uncertain 13_33315186_C->T 13 33315186 33315186 C T snp 686.77 1/1 51 22 0 22 1.0 intronic rs2320469 PDS5B AU NM_015032 exon22 c.92308-31C>T 0.9380 0.9246 Uncertain 13_33315189_G->T 13 33315189 33315189 G T snp 618.77 1/1 48 23 1 22 0.96 intronic rs2320470 PDS5B AU NM_015032 exon22 c.92308-28G>T 0.9374 0.9235 Uncertain 13_33590851_T->C 13 33590851 33590851 T C snp 4602.77 1/1 99 169 0 169 1.0 exonic rs2772364 KL AR,AU synonymous SNV NM_004795 exon1 c.T273C p.D91D 0.944089 1 0.947470 0.9865 1 Uncertain 13_33627760_A->G 13 33627760 33627760 A G snp 1017.77 1/1 78 32 0 32 1.0 intronic rs7323281 KL AR,AU NM_004795 exon2 c.37325-143A>G 0.300719 0.4494 Uncertain 13_33627829_T->G 13 33627829 33627829 T G snp 2555.77 1/1 99 97 0 97 1.0 intronic rs570875 KL AR,AU NM_004795 exon2 c.37325-74T>G 0.976438 1 Uncertain 13_33635463_T->C 13 33635463 33635463 T C snp 3700.77 1/1 99 134 0 134 1.0 exonic rs648202 KL AR,AU synonymous SNV NM_004795 exon4 c.T2247C p.A749A 0.710863 0.6071 0.768953 0.8036 0.5998 Uncertain 13_33635835_T->C 13 33635835 33635835 T C snp 4360.77 1/1 99 142 0 142 1.0 exonic rs649964 KL AR,AU synonymous SNV NM_004795 exon4 c.T2619C p.N873N 0.976238 0.999 0.968322 0.9919 0.9998 Uncertain 13_33635939_T->A 13 33635939 33635939 T A snp 2110.77 1/1 99 80 1 79 0.99 intronic rs650439 KL AR,AU NM_004795 exon4 c.45339+22T>A 0.757388 0.6081 0.821775 0.8180 0.6009 Uncertain 13_33679940_T->C 13 33679940 33679940 T C snp 1056.77 0/1 99 72 27 45 0.63 intronic rs9568847 STARD13 AU NM_001243476 exon1 c.118+93T>C 0.239018 0.3105 Uncertain 13_33680044_T->C 13 33680044 33680044 T C snp 46.77 0/1 33 3 1 2 0.67 intronic rs475303 STARD13 AU NM_001243476 exon1 c.118+197T>C 0.727236 0.7708 Uncertain 13_33701347_C->T 13 33701347 33701347 C T snp 423.77 1/1 33 12 0 12 1.0 intronic rs2764617 STARD13 AU NM_001243474 exon3 c.9322-162C>T 0.794329 0.7768 Uncertain 13_33703656_T->C 13 33703656 33703656 T C snp 3096.77 0/1 99 250 131 119 0.48 exonic rs495680 STARD13 AU synonymous SNV NM_178006 exon5 c.A1158G p.E386E 0.515575 0.5407 0.544595 0.5858 0.5623 Uncertain 13_33713038_C->G 13 33713038 33713038 C G snp 915.77 0/1 99 78 40 38 0.49 intronic rs2858805 STARD13 AU NM_001243474 exon5 c.24259-3408C>G 0.292931 0.3353 0.354102 0.3616 0.3929 Uncertain 13_33741589_C->A 13 33741589 33741589 C A snp 1382.77 0/1 99 112 50 62 0.55 intronic rs9568965 STARD13 AU NM_001243474 exon7 c.49500-98C>A 0.038738 0.0317 Uncertain 13_33741800_C->T 13 33741800 33741800 C T snp 814.77 0/1 99 53 20 33 0.62 intronic rs9568966 STARD13 AU NM_001243474 exon7 c.49572+41C>T 0.0251597 0.0317 0.010226 0.0171 0.0411 Uncertain 13_34013847_G->C 13 34013847 34013847 G C snp 289.77 0/1 99 44 29 15 0.34 intergenic rs876133 STARD13 AU 0.51877 0.4692 0.4411 0.4899 Uncertain 13_34013959_T->C 13 34013959 34013959 T C snp 77.77 0/1 99 7 4 3 0.43 intergenic rs651327 STARD13 AU 0.51857 0.4692 Uncertain 13_34098232_A->C 13 34098232 34098232 A C snp 412.77 0/1 99 44 26 18 0.41 intergenic rs1329344 STARD13 AU 0.255591 0.2917 Uncertain 13_34392093_T->A 13 34392093 34392093 T A snp 225.77 0/1 99 15 8 7 0.47 upstream rs2297121 RFC3 AU 0.269169 0.3036 Uncertain 13_34398150_A->G 13 34398150 34398150 A G snp 163.77 0/1 99 14 5 9 0.64 intronic rs296898 RFC3 AU NM_181558 exon3 c.5806+29A>G 0.147564 0.1131 0.111302 0.1557 0.1863 Uncertain 13_34404249_T->C 13 34404249 34404249 T C snp 421.77 0/1 99 19 5 14 0.74 intronic rs2274728 RFC3 AU NM_181558 exon5 c.11839+95T>C 0.312899 0.3363 Uncertain 13_34404287_G->A 13 34404287 34404287 G A snp 341.78 1/1 27 9 0 9 1.0 intronic rs1041091 RFC3 AU NM_181558 exon5 c.11839+133G>A 0.9998 1 Uncertain 13_34405243_T->C 13 34405243 34405243 T C snp 485.77 0/1 99 48 30 18 0.38 intronic rs3135603 RFC3 AU NM_181558 exon7 c.13077-149T>C 0.307109 0.3363 Uncertain 13_34409242_T->C 13 34409242 34409242 T C snp 92.77 0/1 99 16 11 5 0.31 intronic rs3135628 RFC3 AU NM_181558 exon8 c.16969-42T>C 0.307308 0.3373 0.206339 0.1905 0.3272 Uncertain 13_34409251_C->G 13 34409251 34409251 C G snp 171.77 0/1 99 19 12 7 0.37 intronic rs1805375 RFC3 AU NM_181558 exon8 c.16969-33C>G 0.151558 0.1131 0.116769 0.1089 0.1266 Uncertain 13_34409603_T->G 13 34409603 34409603 T G snp 1010.77 0/1 99 89 48 41 0.46 intronic rs3135629 RFC3 AU NM_181558 exon8 c.17039+249T>G 0.307109 0.3363 0.193408 0.2085 0.3589 Uncertain 13_34410531_C->T 13 34410531 34410531 C T snp 116.77 0/1 99 9 5 4 0.44 UTR3 rs3135635 RFC3 AU 0.255591 0.3036 Uncertain 13_35252882_T->C 13 35252882 35252882 T C snp 1290.77 0/1 99 115 52 63 0.55 intergenic rs9572094 LINC00457 AU 0.416334 0.5258 0.348622 0.3788 0.5573 Uncertain 13_35618966_T->G 13 35618966 35618966 T G snp 156.84 0/1 18 6 1 5 0.83 intronic rs74051221 NBEA AU NM_015678 exon3 c.102126-117T>G 0.212859 0.2867 Uncertain 13_35618991_A->G 13 35618991 35618991 A G snp 776.77 1/1 60 22 0 22 1.0 intronic rs7996448 NBEA AU NM_015678 exon3 c.102126-92A>G 0.700479 0.7123 Uncertain 13_35619385_A->G 13 35619385 35619385 A G snp 1138.77 0/1 99 86 44 42 0.49 intronic rs9543121 NBEA AU NM_015678 exon4 c.102485-57A>G 0.160144 0.4623 Uncertain 13_35738430_A->G 13 35738430 35738430 A G snp 126.77 0/1 99 14 9 5 0.36 intronic rs9543506 NBEA AU NM_015678 exon24 c.221535-62A>G 0.378994 0.497 Uncertain 13_35926497_A->G 13 35926497 35926497 A G snp 143.77 0/1 99 18 12 6 0.33 intronic rs9565205 NBEA AU NM_015678 exon38 c.409503+37A>G 0.403355 0.3125 0.474032 0.5726 0.3684 Uncertain 13_36049080_T->G 13 36049080 36049080 T G snp 1206.77 1/1 90 35 0 35 1.0 ncRNA_intronic rs9565317 MIR548F5 AU 0.348442 0.497 Uncertain 13_36141009_G->A 13 36141009 36141009 G A snp 1622.77 1/1 99 59 0 59 1.0 ncRNA_intronic rs9544667 MIR548F5 AU 0.888978 0.9851 0.903366 0.9433 0.9997 Uncertain 13_36220292_T->C 13 36220292 36220292 T C snp 1425.77 1/1 99 43 0 43 1.0 ncRNA_intronic rs3818424 MIR548F5 AU 0.34405 0.7232 Uncertain 13_36224052_ACTGGG->- 13 36224052 36224057 ACTGGG - indel 394.87 1/1 15 7 0 7 1.0 ncRNA_intronic rs200267946 MIR548F5 AU 0.937101 1 Uncertain 13_36244990_A->G 13 36244990 36244990 A G snp 1405.77 0/1 99 128 73 55 0.43 ncRNA_intronic rs3794387 MIR548F5 AU 0.21226 0.2698 0.198762 0.2435 0.2763 Uncertain 13_36367641_G->C 13 36367641 36367641 G C snp 489.77 0/1 99 42 25 17 0.4 ncRNA_intronic rs1926459 MIR548F5 AU 0.249401 0.4286 0.231816 0.2567 0.3880 Uncertain 13_36382312_C->T 13 36382312 36382312 C T snp 1375.77 0/1 99 103 44 59 0.57 ncRNA_intronic rs4421866 MIR548F5 AU 0.223243 0.4266 0.203214 0.2401 0.3773 Uncertain 13_36383264_G->A 13 36383264 36383264 G A snp 790.77 0/1 99 70 35 35 0.5 ncRNA_intronic rs9545424 MIR548F5 AU 0.112021 0.1558 0.115101 0.1213 0.1884 Uncertain 13_36385031_G->T 13 36385031 36385031 G T snp 1877.77 0/1 99 165 86 79 0.48 exonic rs2322807 DCLK1 AU synonymous SNV NM_004734 exon12 c.C1629A p.P543P 0.297923 0.2778 0.285176 0.2462 0.3246 Uncertain 13_36385199_T->G 13 36385199 36385199 T G snp 146.77 0/1 99 12 7 5 0.42 ncRNA_intronic rs3764060 MIR548F5 AU 0.298123 0.2778 Uncertain 13_36397031_C->G 13 36397031 36397031 C G snp 353.77 0/1 99 34 19 15 0.44 ncRNA_intronic rs3751346 MIR548F5 AU 0.350439 0.2748 0.342611 0.2831 0.3221 Uncertain 13_36401746_A->G 13 36401746 36401746 A G snp 3483.77 1/1 99 121 0 121 1.0 ncRNA_intronic rs9574698 MIR548F5 AU 0.350839 0.6171 0.277180 0.2862 0.6191 Uncertain 13_36401799_T->C 13 36401799 36401799 T C snp 2046.77 0/1 99 195 104 91 0.47 exonic rs199823512 DCLK1 AU synonymous SNV NM_004734 exon10 c.A1380G p.E460E 0.000199681 0.001 2.472e-05 0.0003 Uncertain 13_36401909_T->C 13 36401909 36401909 T C snp 1455.77 0/1 99 121 63 58 0.48 ncRNA_intronic rs9574699 MIR548F5 AU 0.438299 0.5754 0.391896 0.3694 0.5552 Uncertain 13_36402009_A->G 13 36402009 36402009 A G snp 384.77 1/1 30 11 0 11 1.0 ncRNA_intronic rs9531099 MIR548F5 AU 0.705272 0.8185 Uncertain 13_36428595_C->T 13 36428595 36428595 C T snp 543.77 0/1 99 50 25 25 0.5 ncRNA_intronic rs1926466 MIR548F5 AU 0.478834 0.63 0.429340 0.4475 0.6099 Uncertain 13_36443324_G->A 13 36443324 36443324 G A snp 805.77 0/1 99 70 32 38 0.54 ncRNA_intronic rs7986427 MIR548F5 AU 0.314097 0.2421 Uncertain 13_36521433_T->G 13 36521433 36521433 T G snp 2679.77 1/1 99 93 0 93 1.0 intronic rs1936004 DCLK1 AU NM_004734 exon15 c.172716-61T>G 0.473442 0.4157 Uncertain 13_36521460_A->G 13 36521460 36521460 A G snp 3769.77 1/1 99 129 0 129 1.0 intronic rs1936003 DCLK1 AU NM_004734 exon15 c.172716-34A>G 0.465655 0.4157 0.500923 0.6148 0.4363 Uncertain 13_36699762_G->A 13 36699762 36699762 G A snp 99.28 1/1 9 3 0 3 1.0 intronic rs9565869 DCLK1 AU NM_004734 exon17 c.351120-136G>A 0.825479 0.9841 Uncertain 13_36700350_ATA->- 13 36700350 36700352 ATA - indel 743.73 0/1 99 29 7 22 0.76 intronic rs748111457 DCLK1 AU NM_004734 exon17 c.351515+57_351515+59delATA Uncertain 13_36700354_A->T 13 36700354 36700354 A T snp 381.77 0/1 99 22 7 15 0.68 intronic rs74044530 DCLK1 AU NM_004734 exon17 c.351515+61A>T 0.383387 0.5208 Uncertain 13_36700356_-->G 13 36700356 36700356 - G indel 466.73 0/1 99 23 7 16 0.7 intronic DCLK1 AU NM_004734 exon17 c.351515+63insG Uncertain 13_36744910_C->T 13 36744910 36744910 C T snp 6081.77 1/1 99 221 0 221 1.0 exonic rs2296968 CCDC169-SOHLH2 AU nonsynonymous SNV NM_017826 exon10 c.G1015A p.A339T 0.262979 0.4911 0.181147 0.2384 0.4934 1 T 0.0 P -0.962 T 0.0 T 0.0 T ID=CM142870;DIS=Premature ovarian failure, association with;TAG=DP;PUB=24524832 DP Pathogenic 13_36744974_T->C 13 36744974 36744974 T C snp 1487.77 0/1 99 121 60 61 0.5 intronic rs762983646 CCDC169-SOHLH2 AU NM_001198910 exon2 c.1754+50T>C 1.736e-05 0.0002 Uncertain 13_36747798_C->G 13 36747798 36747798 C G snp 584.77 1/1 45 18 0 18 1.0 intronic rs1410633 CCDC169-SOHLH2 AU NM_001198910 exon3 c.4658-30C>G 0.996605 1 0.997232 0.9991 1 Uncertain 13_36788529_C->T 13 36788529 36788529 C T snp 2123.77 1/1 99 83 0 83 1.0 intronic rs3762116 CCDC169-SOHLH2 AU NM_001198910 exon10 c.33060+12299C>T 0.367612 0.3839 Uncertain 13_36801256_T->C 13 36801256 36801256 T C snp 519.77 1/1 39 15 0 15 1.0 UTR3 rs9546784 CCDC169 AU 0.376198 0.374 Uncertain 13_36801415_C->T 13 36801415 36801415 C T snp 3138.77 1/1 99 119 0 119 1.0 exonic rs9546785 CCDC169 AU nonsynonymous SNV NM_001144984 exon6 c.G349A p.G117R 0.377596 0.3819 0.411958 0.4436 0.3698 0 D 0.0 P -0.919 T 0.999 D 0.98 D Pathogenic 13_36801579_A->G 13 36801579 36801579 A G snp 474.77 1/1 36 16 0 16 1.0 intronic rs9546786 CCDC169 AU NM_001144984 exon1 c.181+61A>G 0.375998 0.374 Uncertain 13_36801587_T->A 13 36801587 36801587 T A snp 403.77 1/1 30 14 0 14 1.0 intronic rs9546787 CCDC169 AU NM_001144984 exon1 c.181+69T>A 0.364217 0.374 Uncertain 13_36805290_A->- 13 36805290 36805290 A - indel 1388.73 1/1 99 45 0 45 1.0 UTR3 rs67328439 CCDC169 AU 0.365016 0.374 0.407057 0.4661 0.4021 Uncertain 13_36805625_C->A 13 36805625 36805625 C A snp 377.77 1/1 30 13 0 13 1.0 intronic rs4397984 CCDC169 AU NM_001144986 exon1 c.100+196C>A 0.375998 0.374 Uncertain 13_36814682_A->G 13 36814682 36814682 A G snp 4562.77 1/1 99 170 1 169 0.99 intronic rs9546834 CCDC169 AU NM_001144986 exon2 c.17413-8060A>G 0.375998 0.374 Uncertain 13_36818037_A->G 13 36818037 36818037 A G snp 2860.77 1/1 99 115 0 115 1.0 intronic rs9546862 CCDC169 AU NM_001144986 exon2 c.17413-4705A>G 0.364417 0.373 Uncertain 13_36818080_C->T 13 36818080 36818080 C T snp 3227.04 1/1 99 127 0 127 1.0 intronic rs9546863 CCDC169 AU NM_001144986 exon2 c.17413-4662C>T 0.376198 0.373 Uncertain 13_36822711_G->T 13 36822711 36822711 G T snp 1616.77 1/1 99 59 0 59 1.0 intronic rs9315402 CCDC169 AU NM_001144986 exon2 c.17413-31G>T 0.375799 0.373 0.4440 0.3682 Uncertain 13_36822849_C->T 13 36822849 36822849 C T snp 1422.77 1/1 99 52 0 52 1.0 intronic rs9315403 CCDC169 AU NM_001144986 exon2 c.17490+30C>T 0.375799 0.373 0.409549 0.4459 0.3754 Uncertain 13_36822884_C->T 13 36822884 36822884 C T snp 896.77 1/1 66 29 0 29 1.0 intronic rs9315404 CCDC169 AU NM_001144986 exon2 c.17490+65C>T 0.375799 0.373 Uncertain 13_36822908_C->T 13 36822908 36822908 C T snp 685.77 1/1 51 22 0 22 1.0 intronic rs9315405 CCDC169 AU NM_001144986 exon2 c.17490+89C>T 0.375799 0.373 Uncertain 13_36827788_C->A 13 36827788 36827788 C A snp 70.28 1/1 9 3 0 3 1.0 intronic rs9546885 CCDC169 AU NM_001144986 exon3 c.22610-151C>A 0.3752 0.373 Uncertain 13_36827791_G->T 13 36827791 36827791 G T snp 94.28 1/1 9 3 0 3 1.0 intronic rs9531653 CCDC169 AU NM_001144986 exon3 c.22610-148G>T 0.3752 0.373 Uncertain 13_36827833_C->T 13 36827833 36827833 C T snp 334.78 1/1 27 9 0 9 1.0 intronic rs9546886 CCDC169 AU NM_001144986 exon3 c.22610-106C>T 0.375 0.373 Uncertain 13_36827896_C->T 13 36827896 36827896 C T snp 2386.77 1/1 99 76 0 76 1.0 intronic rs9546887 CCDC169 AU NM_001144986 exon3 c.22610-43C>T 0.375799 0.373 0.4451 0.3793 Uncertain 13_36828092_-->TTTTGTAAGCA 13 36828092 36828092 - TTTTGTAAGCA indel 17866.7 1/1 99 151 0 151 1.0 intronic rs138966884 CCDC169 AU NM_001144986 exon4 c.22852-89insTTTTGTAAGCA 0.375399 0.373 Uncertain 13_36828237_T->C 13 36828237 36828237 T C snp 801.77 1/1 57 33 0 33 1.0 exonic rs9546897 CCDC169 AU nonsynonymous SNV NM_001144984 exon3 c.A59G p.K20R 0.375799 0.373 0.4461 0.3721 0.84 T 0.000 P -0.926 T 0.0 T 0.001 T Pathogenic 13_36829085_A->G 13 36829085 36829085 A G snp 556.77 1/1 42 14 0 14 1.0 intronic rs912928 CCDC169 AU NM_001144986 exon4 c.22951+805A>G 0.375799 0.373 Uncertain 13_36829209_C->A 13 36829209 36829209 C A snp 2689.77 1/1 99 106 3 103 0.97 intronic rs1078302 CCDC169 AU NM_001144986 exon4 c.22951+929C>A 0.375799 0.373 Uncertain 13_36829258_G->A 13 36829258 36829258 G A snp 4062.77 1/1 99 152 2 150 0.99 intronic rs751518 CCDC169 AU NM_001144986 exon4 c.22951+978G>A 0.375998 0.373 Uncertain 13_36829301_A->T 13 36829301 36829301 A T snp 3983.77 1/1 99 153 2 151 0.99 intronic rs751519 CCDC169 AU NM_001144986 exon4 c.22951+1021A>T 0.375998 0.373 Uncertain 13_36855173_A->T 13 36855173 36855173 A T snp 248.8 1/1 21 8 0 8 1.0 intronic rs9566036 CCDC169 AU NM_001144986 exon5 c.52276-2432A>T 0.279353 0.4911 Uncertain 13_36855375_C->T 13 36855375 36855375 C T snp 1060.77 1/1 81 36 0 36 1.0 intronic rs9575792 CCDC169 AU NM_001144986 exon5 c.52276-2230C>T 0.291733 0.4921 0.2808 0.5 Uncertain 13_36855405_A->G 13 36855405 36855405 A G snp 815.77 1/1 63 26 0 26 1.0 intronic rs1925845 CCDC169 AU NM_001144986 exon5 c.52276-2200A>G 0.278754 0.4911 0.2777 0.5070 Uncertain 13_36855426_-->A 13 36855426 36855426 - A indel 410.73 1/1 48 19 0 19 1.0 intronic rs35267999 CCDC169 AU NM_001144986 exon5 c.52276-2179insA 0.292931 0.4891 0.3408 0.4746 Uncertain 13_36857468_C->T 13 36857468 36857468 C T snp 130.03 1/1 12 4 0 4 1.0 intronic rs1998797 CCDC169 AU NM_001144986 exon5 c.52276-137C>T 0.290935 0.4901 Uncertain 13_36857479_A->G 13 36857479 36857479 A G snp 176.9 1/1 15 5 0 5 1.0 intronic rs1998798 CCDC169 AU NM_001144986 exon5 c.52276-126A>G 0.290935 0.4901 Uncertain 13_36857500_A->C 13 36857500 36857500 A C snp 264.8 1/1 21 7 0 7 1.0 intronic rs1998799 CCDC169 AU NM_001144986 exon5 c.52276-105A>C 0.271166 0.4901 Uncertain 13_36857639_T->C 13 36857639 36857639 T C snp 1600.77 1/1 99 59 0 59 1.0 exonic rs1998800 CCDC169 AU synonymous SNV NM_001144981 exon4 c.A282G p.L94L 0.291334 0.4911 0.2658 0.4775 Uncertain 13_36858016_C->T 13 36858016 36858016 C T snp 46.74 1/1 6 2 0 2 1.0 intronic rs3818459 CCDC169 AU NM_001144986 exon6 c.52510+177C>T 0.227436 0.3452 Uncertain 13_36869843_G->C 13 36869843 36869843 G C snp 1135.77 1/1 56 41 1 40 0.98 intronic rs9566063 CCDC169 AU NM_001144981 exon7 c.64585-71G>C 0.291334 0.4911 Uncertain 13_36871764_G->A 13 36871764 36871764 G A snp 2869.77 1/1 99 103 0 103 1.0 intronic rs2281865 CCDC169 AU NM_001144986 exon7 c.66444-9G>A 0.309105 0.4921 0.251424 0.2745 0.4868 Uncertain 13_36878700_G->A 13 36878700 36878700 G A snp 2588.77 0/1 99 211 102 109 0.52 exonic rs560149430 SPG20 AR synonymous SNV NM_015087 exon9 c.C1803T p.A601A 0.000199681 0.001 0.0001 0.0014 Uncertain 13_36886469_T->C 13 36886469 36886469 T C snp 5622.77 1/1 99 216 0 216 1.0 exonic rs2274293 SPG20 AR synonymous SNV NM_015087 exon7 c.A1629G p.A543A 0.289137 0.5139 0.225050 0.2821 0.5275 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000118408.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 13_36939688_C->T 13 36939688 36939688 C T snp 311.78 1/1 24 9 0 9 1.0 ncRNA_exonic rs3736919 SPG20-AS1 AU 0.586062 0.7897 0.5862 0.7846 Uncertain 13_36939758_A->G 13 36939758 36939758 A G snp 1696.77 1/1 99 52 0 52 1.0 ncRNA_intronic rs3736920 SPG20-AS1 AU 0.749002 0.7927 0.7465 0.7895 Uncertain 13_36940028_G->A 13 36940028 36940028 G A snp 1830.77 1/1 99 56 0 56 1.0 ncRNA_intronic rs1041140 SPG20-AS1 AU 0.9998 1 0.9995 1 Uncertain 13_36940123_T->C 13 36940123 36940123 T C snp 56.74 1/1 6 2 0 2 1.0 ncRNA_intronic rs1041139 SPG20-AS1 AU 0.586861 0.7907 Uncertain 13_36942533_G->T 13 36942533 36942533 G T snp 419.77 1/1 33 14 0 14 1.0 ncRNA_intronic rs1056850 SPG20-AS1 AU 0.748602 0.7927 Uncertain 13_37007040_A->G 13 37007040 37007040 A G snp 291.78 1/1 24 8 0 8 1.0 intronic rs4245378 CCNA1 AU NM_003914 exon2 c.411-129A>G 0.879393 0.997 Uncertain 13_37007501_G->T 13 37007501 37007501 G T snp 301.78 1/1 24 9 0 9 1.0 intronic rs9576049 CCNA1 AU NM_003914 exon2 c.600+143G>T 0.630791 0.7788 Uncertain 13_37014366_G->A 13 37014366 37014366 G A snp 1579.77 0/1 99 95 46 49 0.52 intronic rs2282411 CCNA1 AU NM_003914 exon6 c.7562+46G>A 0.339058 0.4782 0.312442 0.3805 0.4796 Uncertain 13_37401918_T->- 13 37401918 37401918 T - indel 4434.73 1/1 99 136 1 135 0.99 UTR3 rs11285105 RFXAP AR 0.801118 0.6885 0.860942 0.8784 0.7124 Uncertain 13_37439964_C->A 13 37439964 37439964 C A snp 443.77 0/1 99 44 24 20 0.45 intronic rs3748305 SMAD9 AD NM_001127217 exon3 c.17083+69C>A 0.596446 0.4752 Uncertain 13_37440061_T->C 13 37440061 37440061 T C snp 40.77 0/1 69 5 3 2 0.4 intronic rs485033 SMAD9 AD NM_001127217 exon3 c.17083+166T>C 0.567692 0.4851 Uncertain 13_37453293_-->CTCT 13 37453293 37453293 - CTCT indel 766.73 1/1 36 12 0 12 1.0 intronic rs10658358 SMAD9 AD NM_001127217 exon6 c.30602-121insCTCT Uncertain 13_37526560_G->A 13 37526560 37526560 G A snp 1028.77 1/1 75 36 0 36 1.0 intronic rs6563506 ALG5 AU NM_013338 exon2 c.2572-90G>A 0.840855 0.997 Uncertain 13_37546280_G->C 13 37546280 37546280 G C snp 257.8 1/1 21 8 0 8 1.0 intronic rs9576146 ALG5 AU NM_013338 exon4 c.22095+107G>C 0.427316 0.7321 Uncertain 13_37569200_A->G 13 37569200 37569200 A G snp 1458.77 1/1 99 54 0 54 1.0 intronic rs2323165 ALG5 AU NM_013338 exon8 c.45094+28A>G 0.951677 1 0.903633 0.9084 0.9995 Uncertain 13_37580139_G->A 13 37580139 37580139 G A snp 2966.77 1/1 99 120 0 120 1.0 exonic rs1127446 EXOSC8 AR synonymous SNV NM_181503 exon6 c.G321A p.Q107Q 0.413538 0.7232 0.311549 0.4134 0.7112 Uncertain 13_37581051_T->G 13 37581051 37581051 T G snp 2847.77 1/1 99 92 1 91 0.99 intronic rs9576154 EXOSC8 AR NM_181503 exon8 c.6169-60T>G 0.952875 1 Uncertain 13_37583831_G->A 13 37583831 37583831 G A snp 5374.77 1/1 99 205 0 205 1.0 exonic rs9469 SUPT20H AU nonsynonymous SNV NM_001014286 exon26 c.C2318T p.T773M 0.413139 0.7232 0.310857 0.4128 0.7116 0.16 T 1.000 P -1.003 T 0.006 T 0.004 T Pathogenic 13_37584838_G->A 13 37584838 37584838 G A snp 1095.77 1/1 78 40 0 40 1.0 intronic rs7317750 SUPT20H AU NM_001014286 exon2 c.984+46G>A 0.852636 1 0.795710 0.8786 0.9997 Uncertain 13_37593424_T->C 13 37593424 37593424 T C snp 1396.77 1/1 99 49 0 49 1.0 intronic rs9566175 SUPT20H AU NM_001278482 exon4 c.9633-54T>C 0.119409 0.3442 0.065552 Uncertain 13_37598113_A->G 13 37598113 37598113 A G snp 1728.77 1/1 99 56 0 56 1.0 intronic rs4943441 SUPT20H AU NM_001278482 exon7 c.14326-58A>G 0.84385 1 0.8889 0.9996 Uncertain 13_37600199_A->G 13 37600199 37600199 A G snp 190.84 1/1 18 6 0 6 1.0 intronic rs4941856 SUPT20H AU NM_001278482 exon10 c.16495-141A>G 0.855831 1 Uncertain 13_37600284_G->A 13 37600284 37600284 G A snp 409.77 1/1 30 19 0 19 1.0 intronic rs9576155 SUPT20H AU NM_001278482 exon10 c.16495-56G>A 0.396366 0.7202 0.272987 Uncertain 13_37621528_A->G 13 37621528 37621528 A G snp 1063.77 1/1 75 42 0 42 1.0 intronic rs1199983 SUPT20H AU NM_001278482 exon21 c.37826-143A>G 0.957867 1 Uncertain 13_37625459_C->T 13 37625459 37625459 C T snp 54.74 1/1 6 2 0 2 1.0 intronic rs1199974 SUPT20H AU NM_001278482 exon24 c.41779-165C>T 0.957668 1 Uncertain 13_37625601_T->C 13 37625601 37625601 T C snp 1402.77 1/1 99 51 0 51 1.0 intronic rs1543738 SUPT20H AU NM_001278482 exon24 c.41779-23T>C 0.859225 1 0.813009 0.8962 0.9997 Uncertain 13_37625770_-->G 13 37625770 37625770 - G indel 581.73 1/1 48 17 0 17 1.0 intronic rs397725318 SUPT20H AU NM_001278482 exon24 c.41875+50insG 0.859225 1 Uncertain 13_37679268_G->T 13 37679268 37679268 G T snp 7701.77 1/1 99 250 0 250 1.0 exonic rs9576175 CSNK1A1L AU nonsynonymous SNV NM_145203 exon1 c.C126A p.D42E 0.596845 0.8135 0.513609 0.5329 0.8121 1 T 0.000 P -1.014 T 0.0 T 0.003 T Pathogenic 13_37804081_C->T 13 37804081 37804081 C T snp 182.9 1/1 15 5 0 5 1.0 intergenic rs1924450 CSNK1A1L AU 0.898562 1 Uncertain 13_38138730_C->T 13 38138730 38138730 C T snp 1792.77 1/1 99 65 0 65 1.0 intronic rs4390468 POSTN AU NM_001135936 exon2 c.1228+33C>T 0.748802 0.8095 0.702200 0.6864 0.8388 Uncertain 13_38143326_T->- 13 38143326 38143326 T - indel 549.73 1/1 63 21 0 21 1.0 intronic rs564921581 POSTN AU NM_001286666 exon3 c.5967-110delT 0.730431 0.7808 Uncertain 13_38143586_G->A 13 38143586 38143586 G A snp 774.77 0/1 99 85 49 36 0.42 intronic rs9603226 POSTN AU NM_001286666 exon3 c.6051+66G>A 0.19349 0.3433 Uncertain 13_38148893_C->T 13 38148893 38148893 C T snp 204.84 1/1 18 8 0 8 1.0 intronic rs8000073 POSTN AU NM_006475 exon7 c.11320+104C>T 0.736422 0.8095 Uncertain 13_38152041_T->C 13 38152041 38152041 T C snp 127.77 0/1 66 8 2 6 0.75 intronic rs78553500 POSTN AU NM_001135936 exon5 c.14466+106T>C 0.0393371 0.1825 Uncertain 13_38153130_T->C 13 38153130 38153130 T C snp 2884.77 1/1 99 108 0 108 1.0 intronic rs7322993 POSTN AU NM_001135936 exon7 c.15686-25T>C 0.749201 0.8095 0.702971 0.6881 0.8387 Uncertain 13_38154905_T->A 13 38154905 38154905 T A snp 2662.77 1/1 99 90 0 90 1.0 intronic rs9315504 POSTN AU NM_001135936 exon10 c.17365+71T>A 0.342252 0.6746 Uncertain 13_38164445_G->A 13 38164445 38164445 G A snp 303.78 1/1 24 9 0 9 1.0 intronic rs1006416 POSTN AU NM_001135936 exon17 c.27039-63G>A 0.859824 0.9474 Uncertain 13_38172896_G->C 13 38172896 38172896 G C snp 1988.77 0/1 99 211 126 85 0.4 UTR5 rs3829365 POSTN AU 0.131989 0.3284 0.066508 0.1116 0.3512 Uncertain 13_38237872_A->G 13 38237872 38237872 A G snp 3183.76 1/1 99 118 0 118 1.0 splicing rs2985171 TRPC4 AU NM_001135958 exon6 c.26827+6A>G 0.972644 1 0.975700 0.9931 1 Pathogenic 13_38248655_A->G 13 38248655 38248655 A G snp 133.03 1/1 12 4 0 4 1.0 intronic rs1924304 TRPC4 AU NM_001135958 exon7 c.37465+151A>G 0.53754 0.7282 Uncertain 13_38266000_G->T 13 38266000 38266000 G T snp 381.77 1/1 30 11 0 11 1.0 intronic rs7329237 TRPC4 AU NM_001135958 exon8 c.55096-135G>T 0.991014 1 Uncertain 13_38320595_A->- 13 38320595 38320595 A - indel 253.77 1/1 20 23 1 22 0.96 splicing rs35278654 TRPC4 AU NM_003306 exon9 c.109553+3delA 0.767572 0.7946 0.6106 0.6156 Pathogenic 13_38320704_G->T 13 38320704 38320704 G T snp 54.74 1/1 6 2 0 2 1.0 intronic rs1981055 TRPC4 AU NM_003306 exon9 c.109553+112G>T 0.508586 0.5595 Uncertain 13_38357025_G->A 13 38357025 38357025 G A snp 178.9 1/1 15 5 0 5 1.0 intronic rs9576352 TRPC4 AU NM_001135958 exon9 c.146053-67G>A 0.500599 0.7321 Uncertain 13_38924083_A->T 13 38924083 38924083 A T snp 6511.77 1/1 99 246 0 246 1.0 intronic rs2231330 UFM1 AU NM_016617 exon1 c.2+25A>T 0.864217 0.9911 0.850300 0.9399 0.9884 Uncertain 13_38924263_T->C 13 38924263 38924263 T C snp 6474.77 1/1 99 235 0 235 1.0 exonic rs2231332 UFM1 AU synonymous SNV NM_001286704 exon2 c.T12C p.A4A 0.864217 0.9911 0.861165 0.9408 0.9884 Uncertain 13_38930893_C->T 13 38930893 38930893 C T snp 1223.77 1/1 90 37 0 37 1.0 intronic rs2481880 UFM1 AU NM_016617 exon4 c.8173-1336C>T 0.866014 0.9911 Uncertain 13_38931144_T->C 13 38931144 38931144 T C snp 520.77 1/1 39 18 0 18 1.0 intronic rs9548318 UFM1 AU NM_016617 exon4 c.8173-1085T>C 0.78155 0.9911 Uncertain 13_38931650_-->TT 13 38931650 38931650 - TT indel 406.73 1/1 36 15 0 15 1.0 intronic rs34489703 UFM1 AU NM_016617 exon4 c.8173-579insTT 0.861222 0.9861 Uncertain 13_38932545_-->T 13 38932545 38932545 - T indel 356.73 1/1 45 21 0 21 1.0 intronic rs11381230 UFM1 AU NM_016617 exon4 c.8213+276insT 0.860623 0.9187 Uncertain 13_38932648_C->T 13 38932648 38932648 C T snp 143.03 1/1 12 5 0 5 1.0 intronic rs2485786 UFM1 AU NM_016617 exon4 c.8213+379C>T 0.832668 0.9911 Uncertain 13_39262057_G->A 13 39262057 39262057 G A snp 6673.77 1/1 99 236 0 236 1.0 exonic rs1868464 FREM2 AR synonymous SNV NM_207361 exon1 c.G576A p.E192E 1 1 0.999769 1.0000 1 Uncertain 13_39263714_T->C 13 39263714 39263714 T C snp 8063.77 1/1 99 250 0 250 1.0 exonic rs2496423 FREM2 AR nonsynonymous SNV NM_207361 exon1 c.T2233C p.S745P 1 1 0.999769 1.0000 1 1 T 0.000 P -0.941 T 0.0 T 0.0 T Pathogenic 13_39263731_C->T 13 39263731 39263731 C T snp 2732.77 0/1 99 249 142 107 0.43 exonic rs41292755 FREM2 AR synonymous SNV NM_207361 exon1 c.C2250T p.D750D 0.0998403 0.1032 0.073197 0.1039 0.1023 Uncertain 13_39338612_T->C 13 39338612 39338612 T C snp 570.77 1/1 42 20 0 20 1.0 intronic rs2442370 FREM2 AR NM_207361 exon3 c.77106+25T>C 0.946286 1 0.947836 0.9869 1 Uncertain 13_39420561_A->G 13 39420561 39420561 A G snp 46.77 0/1 33 3 1 2 0.67 intronic rs9532291 FREM2 AR NM_207361 exon7 c.159228-148A>G 0.269369 0.1488 Uncertain 13_39426012_G->T 13 39426012 39426012 G T snp 1760.77 0/1 99 154 79 75 0.49 intronic rs79530106 FREM2 AR NM_207361 exon11 c.164524+7G>T 0.0207668 0.0883 0.000615 0.0096 0.0944 Uncertain 13_39430314_C->T 13 39430314 39430314 C T snp 4008.77 1/1 99 157 0 157 1.0 exonic rs9548509 FREM2 AR nonsynonymous SNV NM_207361 exon12 c.C6977T p.T2326I 0.771965 0.9712 0.721898 0.7398 0.9726 0.39 T 0.0 P -0.965 T 0.0 T 0.0 T Pathogenic 13_39430443_G->A 13 39430443 39430443 G A snp 1002.77 0/1 99 56 20 36 0.64 intronic rs9548510 FREM2 AR NM_207361 exon12 c.168912+50G>A 0.273163 0.0952 0.271259 0.2126 0.0973 Uncertain 13_39431945_T->C 13 39431945 39431945 T C snp 532.77 0/1 99 54 36 18 0.33 intronic rs9603455 FREM2 AR NM_207361 exon13 c.170530-66T>C 0.149161 0.0952 Uncertain 13_39433606_A->G 13 39433606 39433606 A G snp 3117.77 1/1 99 109 0 109 1.0 exonic rs9532292 FREM2 AR synonymous SNV NM_207361 exon14 c.A7398G p.T2466T 0.436701 0.3829 0.397816 0.3734 0.3913 Uncertain 13_39433789_A->G 13 39433789 39433789 A G snp 68.77 0/1 97 8 5 3 0.38 intronic rs9576629 FREM2 AR NM_207361 exon14 c.172246+62A>G 0.25619 0.2867 Uncertain 13_39433813_A->G 13 39433813 39433813 A G snp 40.78 0/1 27 3 1 2 0.67 intronic rs9594304 FREM2 AR NM_207361 exon14 c.172246+86A>G 0.284944 0.2867 Uncertain 13_39438260_C->T 13 39438260 39438260 C T snp 74.77 0/1 69 5 2 3 0.6 intronic rs9566368 FREM2 AR NM_207361 exon16 c.176930-151C>T 0.152356 0.2798 Uncertain 13_39438383_C->A 13 39438383 39438383 C A snp 2273.77 1/1 99 77 0 77 1.0 intronic rs9566369 FREM2 AR NM_207361 exon16 c.176930-28C>A 0.366014 0.377 0.326234 0.2755 0.3950 Uncertain 13_39446869_G->A 13 39446869 39446869 G A snp 753.77 0/1 99 107 72 35 0.33 intronic rs9532295 FREM2 AR NM_207361 exon17 c.185397-9G>A 0.200679 0.0972 0.188221 0.1720 0.0975 Uncertain 13_39448476_T->C 13 39448476 39448476 T C snp 297.77 0/1 99 20 10 10 0.5 intronic rs4943614 FREM2 AR NM_207361 exon18 c.187137-142T>C 0.201078 0.0972 Uncertain 13_39450139_A->C 13 39450139 39450139 A C snp 1447.77 0/1 99 92 38 54 0.59 intronic rs1945510 FREM2 AR NM_207361 exon19 c.188677-19A>C 0.201078 0.0972 0.188375 0.1725 0.0976 Uncertain 13_39450584_A->T 13 39450584 39450584 A T snp 251.77 0/1 99 25 14 11 0.44 intronic rs75530044 FREM2 AR NM_207361 exon20 c.189038+65A>T 0.0215655 0.0893 Uncertain 13_39452235_T->C 13 39452235 39452235 T C snp 1887.77 1/1 99 60 0 60 1.0 intronic rs1540131 FREM2 AR NM_207361 exon22 c.190789-35T>C 0.751198 0.8532 0.733354 0.7151 0.8501 Uncertain 13_39452800_C->T 13 39452800 39452800 C T snp 50.74 1/1 6 3 0 3 1.0 intronic rs7995863 FREM2 AR NM_207361 exon23 c.191486-167C>T 0.3127 0.2778 Uncertain 13_39546530_C->G 13 39546530 39546530 C G snp 405.77 0/1 99 23 10 13 0.57 intronic rs8000175 STOML3 AU NM_001144033 exon4 c.5687-118C>G 0.792732 0.7381 Uncertain 13_39605856_G->A 13 39605856 39605856 G A snp 1353.77 0/1 99 125 70 55 0.44 intronic rs79415642 PROSER1 AU NM_025138 exon11 c.20267+88G>A 0.00459265 0.0228 0.0021 0.0282 Uncertain 13_39622075_T->C 13 39622075 39622075 T C snp 1460.77 1/1 99 47 0 47 1.0 UTR3 rs9532318 NHLRC3 AU 0.836462 0.9365 0.762011 0.7515 0.9509 Uncertain 13_40229744_C->T 13 40229744 40229744 C T snp 2420.77 0/1 99 159 58 101 0.64 upstream rs9603589 COG6 AR 0.21905 0.2937 0.2353 0.3359 Uncertain 13_40233404_T->C 13 40233404 40233404 T C snp 250.77 0/1 99 18 9 9 0.5 intronic rs7330515 COG6 AR NM_001145079 exon2 c.3637-96T>C 0.667133 0.7073 Uncertain 13_40233691_C->T 13 40233691 40233691 C T snp 392.77 0/1 99 24 8 16 0.67 intronic rs7330016 COG6 AR NM_001145079 exon2 c.3781+47C>T 0.667133 0.7083 0.645308 0.6886 0.7044 Uncertain 13_40238162_C->G 13 40238162 40238162 C G snp 917.77 0/1 99 55 22 33 0.6 intronic rs4636783 COG6 AR NM_001145079 exon4 c.9369-1070C>G 0.667133 0.7063 0.6620 0.7344 Uncertain 13_40238387_T->C 13 40238387 40238387 T C snp 276.77 0/1 99 35 24 11 0.31 intronic rs4566029 COG6 AR NM_001145079 exon4 c.9369-845T>C 0.666933 0.7063 Uncertain 13_40239139_G->A 13 40239139 40239139 G A snp 41.77 0/1 70 6 4 2 0.33 intronic rs7991151 COG6 AR NM_001145079 exon4 c.9369-93G>A 0.666933 0.7063 Uncertain 13_40251851_A->T 13 40251851 40251851 A T snp 40.77 0/1 69 5 3 2 0.4 intronic rs12716677 COG6 AR NM_001145079 exon5 c.21853+135A>T 0.127396 0.2063 Uncertain 13_40253901_A->G 13 40253901 40253901 A G snp 186.77 0/1 99 13 7 6 0.46 intronic rs4941940 COG6 AR NM_001145079 exon6 c.23894+144A>G 0.667332 0.7073 Uncertain 13_40254100_-->T 13 40254100 40254100 - T indel 138.73 0/1 99 20 12 8 0.4 intronic rs11414752 COG6 AR NM_001145079 exon7 c.24248-11insT 0.284744 0.2867 0.2626 0.3371 Uncertain 13_40256483_G->A 13 40256483 40256483 G A snp 36.77 0/1 33 3 1 2 0.67 intronic rs4346098 COG6 AR NM_001145079 exon8 c.26538+82G>A 0.189896 0.246 Uncertain 13_40261522_A->G 13 40261522 40261522 A G snp 77.77 0/1 99 8 4 4 0.5 intronic rs9315724 COG6 AR NM_001145079 exon9 c.31776-117A>G 0.701877 0.7063 Uncertain 13_40261945_A->G 13 40261945 40261945 A G snp 621.77 0/1 99 42 17 25 0.6 intronic rs4129745 COG6 AR NM_001145079 exon10 c.32073+9A>G 0.295527 0.2917 0.288482 0.2599 0.3027 Uncertain 13_40263979_T->C 13 40263979 40263979 T C snp 40.77 0/1 69 9 6 3 0.33 intronic rs9548882 COG6 AR NM_001145079 exon11 c.34098+18T>C 0.175319 0.2748 0.208314 0.2416 0.2993 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000082044.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 13_40268685_T->C 13 40268685 40268685 T C snp 66.77 0/1 69 5 2 3 0.6 intronic rs9603594 COG6 AR NM_001145079 exon12 c.38907-85T>C 0.248003 0.2897 Uncertain 13_40268723_A->T 13 40268723 40268723 A T snp 147.77 0/1 99 9 4 5 0.56 intronic rs76099375 COG6 AR NM_001145079 exon12 c.38907-47A>T 0.00399361 0.0198 0.0016 0.0198 Uncertain 13_40268930_A->G 13 40268930 40268930 A G snp 627.77 0/1 99 39 13 26 0.67 intronic rs9548886 COG6 AR NM_001145079 exon12 c.38999+68A>G 0.194888 0.25 Uncertain 13_40293289_T->- 13 40293289 40293289 T - indel 1379.73 1/1 99 44 0 44 1.0 intronic rs398022432 COG6 AR NM_001145079 exon14 c.63509-83delT 0.979034 1 Uncertain 13_40293686_C->T 13 40293686 40293686 C T snp 135.77 0/1 99 9 4 5 0.56 intronic rs12875655 COG6 AR NM_001145079 exon15 c.63933-110C>T 0.126997 0.2024 Uncertain 13_40298805_C->T 13 40298805 40298805 C T snp 396.77 1/1 30 14 0 14 1.0 intronic rs9532421 COG6 AR NM_001145079 exon17 c.68835+107C>T 0.994409 1 Uncertain 13_40301763_T->A 13 40301763 40301763 T A snp 1206.77 1/1 87 35 0 35 1.0 intronic rs9548899 COG6 AR NM_001145079 exon18 c.71822+78T>A 0.225439 0.2411 Uncertain 13_41301886_TT->- 13 41301886 41301887 TT - indel 425.73 0/1 99 15 5 10 0.67 downstream rs71642366 MIR320D1 AU 0.0173722 0.0744 Uncertain 13_41330890_T->C 13 41330890 41330890 T C snp 538.77 0/1 99 46 27 19 0.41 intronic rs112194704 MRPS31 AU NM_005830 exon4 c.27501-118T>C 0.0804712 0.1448 Uncertain 13_41331026_C->G 13 41331026 41331026 C G snp 2348.77 0/1 99 250 138 112 0.45 exonic rs35247606 MRPS31 AU synonymous SNV NM_005830 exon4 c.G723C p.T241T 0.0804712 0.1448 0.030217 0.0440 0.1374 Uncertain 13_41331210_C->A 13 41331210 41331210 C A snp 137.77 0/1 99 9 4 5 0.56 intronic rs9577139 MRPS31 AU NM_005830 exon4 c.27642+61C>A 0.0105831 0.0407 Uncertain 13_41345036_C->T 13 41345036 41345036 C T snp 257.77 0/1 99 21 10 11 0.52 intronic rs41286981 MRPS31 AU NM_005830 exon7 c.41613-84C>T 0.0625 0.1448 Uncertain 13_41345428_C->A 13 41345428 41345428 C A snp 295.77 0/1 99 13 4 9 0.69 upstream rs3812890 MRPS31 AU 0.0800719 0.1448 Uncertain 13_41373473_T->C 13 41373473 41373473 T C snp 2801.77 0/1 99 216 102 114 0.53 ncRNA_exonic rs74242792 TPTE2P5 AU 0.0716853 0.1508 0.012533 0.0454 0.1489 Uncertain 13_41379272_C->T 13 41379272 41379272 C T snp 1174.77 0/1 99 96 49 47 0.49 exonic rs9577152 SLC25A15 AR synonymous SNV NM_014252 exon4 c.C333T p.A111A 0.113419 0.0526 0.125173 0.0955 0.0656 CLINSIG=non-pathogenic;CLNDBN=not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000128070.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Uncertain 13_41379550_A->G 13 41379550 41379550 A G snp 197.77 0/1 58 9 2 7 0.78 ncRNA_intronic rs7318125 TPTE2P5 AU 0.179712 0.0516 Uncertain 13_41382807_T->C 13 41382807 41382807 T C snp 475.77 0/1 99 47 26 21 0.45 ncRNA_intronic rs60754171 TPTE2P5 AU 0.402556 0.5308 Uncertain 13_41486861_-->A 13 41486861 41486861 - A indel 81.73 0/1 38 14 2 12 0.86 ncRNA_splicing rs573355351 SUGT1P3 AU 0.0138 0.0294 Uncertain 13_41495856_A->C 13 41495856 41495856 A C snp 826.77 0/1 99 58 31 27 0.47 ncRNA_exonic rs77750044 SUGT1P3 AU 0.0277556 0.0466 Uncertain 13_41515182_T->C 13 41515182 41515182 T C snp 3136.77 0/1 99 250 125 125 0.5 exonic rs9562247 ELF1 AU synonymous SNV NM_001145353 exon7 c.A1059G p.P353P 0.0145767 0.0456 0.000692 0.0069 0.0524 ID=COSM147673;OCCURENCE=1(stomach) Uncertain 13_41515368_T->C 13 41515368 41515368 T C snp 2463.77 0/1 99 189 92 97 0.51 exonic rs9562248 ELF1 AU synonymous SNV NM_001145353 exon7 c.A873G p.L291L 0.0145767 0.0456 0.0065 0.0521 ID=COSM147674;OCCURENCE=1(stomach) Uncertain 13_41524165_C->T 13 41524165 41524165 C T snp 118.77 0/1 99 10 4 6 0.6 intronic rs9634760 ELF1 AU NM_172373 exon5 c.16549+56C>T 0.014976 0.0456 ID=COSN164471;OCCURENCE=1(breast) Uncertain 13_41555998_T->C 13 41555998 41555998 T C snp 77.77 0/1 99 6 3 3 0.5 intronic rs117737262 ELF1 AU NM_172373 exon8 c.48558-120T>C 0.014377 0.0476 Uncertain 13_41636622_C->T 13 41636622 41636622 C T snp 44.77 0/1 33 3 1 2 0.67 intronic rs17593275 WBP4 AU NM_007187 exon2 c.970-157C>T 0.0157748 0.0427 Uncertain 13_41646772_G->T 13 41646772 41646772 G T snp 322.77 0/1 99 23 11 12 0.52 intronic rs117405964 WBP4 AU NM_007187 exon7 c.11108-145G>T 0.0157748 0.0427 Uncertain 13_41646804_G->A 13 41646804 41646804 G A snp 516.77 0/1 99 42 23 19 0.45 intronic rs147089903 WBP4 AU NM_007187 exon7 c.11108-113G>A 0.0181709 0.0427 Uncertain 13_41655012_T->C 13 41655012 41655012 T C snp 1014.77 0/1 99 68 27 41 0.6 intronic rs180741493 WBP4 AU NM_007187 exon9 c.19136+67T>C 0.000798722 0.004 Uncertain 13_41657136_A->T 13 41657136 41657136 A T snp 453.77 0/1 99 29 13 16 0.55 UTR3 rs17631005 WBP4 AU 0.0157748 0.0427 Uncertain 13_41675333_A->- 13 41675333 41675333 A - indel 42.73 0/1 80 22 10 12 0.55 upstream rs758583120 MIR3168 AU Uncertain 13_41705495_A->G 13 41705495 41705495 A G snp 1471.77 0/1 99 149 86 63 0.42 exonic rs584594 KBTBD6 AU synonymous SNV NM_152903 exon1 c.T1153C p.L385L 0.961861 0.9841 0.961172 0.9850 0.9808 Uncertain 13_41706628_G->A 13 41706628 41706628 G A snp 781.77 0/1 99 87 52 35 0.4 exonic rs200762614 KBTBD6 AU nonsynonymous SNV NM_152903 exon1 c.C20T p.A7V 0.00319489 0.0159 0.000384 0.0015 0.0191 0.22 T 1 N -0.937 T 0.16 T 0.056 T Pathogenic 13_41706800_A->G 13 41706800 41706800 A G snp 99.28 1/1 9 3 0 3 1.0 UTR5 rs9566703 KBTBD6 AU 0.987819 1 Uncertain 13_41791440_T->A 13 41791440 41791440 T A snp 456.77 0/1 99 30 13 17 0.57 ncRNA_intronic rs2274903 LOC101929140 AU 0.517572 0.5208 Uncertain 13_41797601_A->T 13 41797601 41797601 A T snp 475.77 0/1 99 35 17 18 0.51 ncRNA_intronic rs2026469 LOC101929140 AU 0.670327 0.5556 Uncertain 13_41807950_T->C 13 41807950 41807950 T C snp 986.77 0/1 99 67 29 38 0.57 ncRNA_intronic rs3751344 LOC101929140 AU 0.617412 0.5526 Uncertain 13_41828439_C->T 13 41828439 41828439 C T snp 142.77 0/1 99 10 5 5 0.5 intronic rs2184037 MTRF1 AU NM_004294 exon8 c.37414-225C>T 0.511781 0.5198 Uncertain 13_41834579_T->- 13 41834579 41834579 T - indel 268.73 0/1 99 24 11 13 0.54 intronic rs398077218 MTRF1 AU NM_004294 exon9 c.43378-49delT 0.51238 0.5258 0.5989 0.5984 Uncertain 13_41834744_C->T 13 41834744 41834744 C T snp 2958.77 0/1 99 250 125 125 0.5 exonic rs2297555 MTRF1 AU synonymous SNV NM_004294 exon2 c.G300A p.E100E 0.673123 0.5496 0.717669 0.7004 0.5722 Uncertain 13_41835076_-->A 13 41835076 41835076 - A indel 290.73 0/1 99 39 14 25 0.64 intronic rs3215932 MTRF1 AU NM_004294 exon9 c.43801+25insA 0.671725 0.5506 0.705642 0.6837 0.5639 Uncertain 13_41835089_T->G 13 41835089 41835089 T G snp 478.77 0/1 99 28 14 14 0.5 intronic rs1332940 MTRF1 AU NM_004294 exon9 c.43801+38T>G 0.673323 0.5496 0.717820 0.7049 0.5779 Uncertain 13_41835106_A->G 13 41835106 41835106 A G snp 218.77 0/1 99 22 11 11 0.5 intronic rs3818722 MTRF1 AU NM_004294 exon9 c.43801+55A>G 0.178115 0.2163 Uncertain 13_41837220_C->T 13 41837220 41837220 C T snp 164.78 0/1 24 6 1 5 0.83 intronic rs3818721 MTRF1 AU NM_004294 exon10 c.46370-400C>T 0.598642 0.5466 Uncertain 13_41885527_C->A 13 41885527 41885527 C A snp 984.77 0/1 99 94 52 42 0.45 UTR5 NAA16 AU Uncertain 13_41893105_T->G 13 41893105 41893105 T G snp 674.77 0/1 99 36 8 28 0.78 intronic rs2065498 NAA16 AU NM_018527 exon3 c.7382+59T>G 0.679113 0.7212 Uncertain 13_41902939_T->C 13 41902939 41902939 T C snp 1408.77 1/1 99 53 0 53 1.0 exonic rs3812896 NAA16 AU synonymous SNV NM_001110798 exon7 c.T771C p.N257N 0.964657 0.9712 0.939778 0.9473 0.9800 Uncertain 13_41937057_C->T 13 41937057 41937057 C T snp 167.9 1/1 15 6 0 6 1.0 intronic rs7986015 NAA16 AU NM_024561 exon13 c.50631+762C>T 0.964457 0.9712 Uncertain 13_41941416_T->A 13 41941416 41941416 T A snp 54.74 1/1 6 2 0 2 1.0 intronic rs6560981 NAA16 AU NM_024561 exon14 c.55910-158T>A 0.964457 0.9712 Uncertain 13_41948051_G->C 13 41948051 41948051 G C snp 604.77 0/1 99 41 22 19 0.46 intronic rs9525478 NAA16 AU NM_024561 exon18 c.62252+135G>C 0.565296 0.5417 Uncertain 13_41948125_A->G 13 41948125 41948125 A G snp 46.77 0/1 33 3 1 2 0.67 intronic rs9566757 NAA16 AU NM_024561 exon18 c.62252+209A>G 0.123203 0.252 Uncertain 13_41949804_G->T 13 41949804 41949804 G T snp 1456.77 1/1 99 45 0 45 1.0 UTR3 rs6560982 NAA16 AU 0.964257 0.9712 Uncertain 13_42032572_T->C 13 42032572 42032572 T C snp 3753.77 1/1 99 142 0 142 1.0 exonic rs7136 RGCC AU synonymous SNV NM_014059 exon2 c.T201C p.S67S 0.556709 0.6766 0.457150 0.5009 0.7143 Uncertain 13_42043086_C->G 13 42043086 42043086 C G snp 687.77 1/1 51 18 0 18 1.0 intronic rs2324791 RGCC AU NM_014059 exon4 c.11131+112C>G 0.941693 1 Uncertain 13_42044508_A->G 13 42044508 42044508 A G snp 2980.77 1/1 99 111 0 111 1.0 intronic rs396963 RGCC AU NM_014059 exon5 c.12770-105A>G 0.941693 1 Uncertain 13_42161863_C->T 13 42161863 42161863 C T snp 71.77 0/1 99 10 7 3 0.3 intronic rs2282210 VWA8 AU NM_015058 exon4 c.19474+57C>T 0.0886581 0.1438 Uncertain 13_42185696_T->C 13 42185696 42185696 T C snp 2385.77 0/1 99 192 88 104 0.54 intronic rs3814782 VWA8 AU NM_015058 exon7 c.43379-15T>C 0.364617 0.4901 0.281255 0.3183 0.4629 Uncertain 13_42189232_C->G 13 42189232 42189232 C G snp 2318.77 1/1 99 80 0 80 1.0 intronic rs3862741 VWA8 AU NM_015058 exon8 c.46888+12C>G 0.697684 0.7341 0.667581 0.7278 0.7080 Uncertain 13_42266889_T->C 13 42266889 42266889 T C snp 506.77 0/1 99 69 47 22 0.32 intronic rs7140090 VWA8 AU NM_015058 exon16 c.124665-108T>C 0.100639 0.1458 Uncertain 13_42275473_A->G 13 42275473 42275473 A G snp 959.77 1/1 72 31 0 31 1.0 intronic rs7322461 VWA8 AU NM_015058 exon18 c.133195-54A>G 0.978834 1 Uncertain 13_42277675_A->T 13 42277675 42277675 A T snp 465.77 0/1 99 21 6 15 0.71 intronic rs9315858 VWA8 AU NM_015058 exon19 c.135215+128A>T 0.330272 0.3641 Uncertain 13_42293966_C->T 13 42293966 42293966 C T snp 30.78 0/1 27 3 1 2 0.67 intronic rs3818663 VWA8 AU NM_015058 exon20 c.151546+88C>T 0.161142 0.1845 Uncertain 13_42303930_C->T 13 42303930 42303930 C T snp 218.84 1/1 18 6 0 6 1.0 intronic rs67369169 VWA8 AU NM_015058 exon23 c.161481+117C>T 0.220048 0.3433 Uncertain 13_42357924_C->T 13 42357924 42357924 C T snp 1055.77 0/1 99 77 34 43 0.56 intronic rs41288293 VWA8 AU NM_015058 exon27 c.215598-6C>T 0.165136 0.2599 0.073351 0.1536 0.2893 Uncertain 13_42361743_-->AC 13 42361743 42361743 - AC indel 801.73 0/1 81 43 4 39 0.91 intronic rs112297676 VWA8 AU NM_015058 exon28 c.219347+64insAC Uncertain 13_42407738_A->G 13 42407738 42407738 A G snp 3093.77 1/1 99 109 0 109 1.0 intronic rs35383891 VWA8 AU NM_015058 exon33 c.265335+71A>G 0.22524 0.3621 Uncertain 13_42461189_C->A 13 42461189 42461189 C A snp 88.28 1/1 9 3 0 3 1.0 intronic rs7328609 VWA8 AU NM_015058 exon40 c.319000-143C>A 0.848442 0.997 Uncertain 13_42465490_C->T 13 42465490 42465490 C T snp 1519.77 1/1 99 51 0 51 1.0 intronic rs7332372 VWA8 AU NM_015058 exon41 c.323223-65C>T 0.848243 0.997 Uncertain 13_42481712_C->T 13 42481712 42481712 C T snp 3318.77 1/1 99 131 0 131 1.0 intronic rs2003064 VWA8 AU NM_015058 exon42 c.339389-9C>T 0.847843 0.996 0.788867 0.8720 0.9994 Uncertain 13_42535257_A->T 13 42535257 42535257 A T snp 174.9 1/1 15 6 0 6 1.0 upstream rs4942083 VWA8 AU 0.222045 0.3373 Uncertain 13_42701717_A->G 13 42701717 42701717 A G snp 3213.77 1/1 99 127 0 127 1.0 intronic rs605371 DGKH AU NM_001204504 exon3 c.78800+8A>G 0.361621 0.1141 0.383131 0.3675 0.1161 Uncertain 13_42701739_A->T 13 42701739 42701739 A T snp 2673.77 1/1 99 93 0 93 1.0 intronic rs670676 DGKH AU NM_001204504 exon3 c.78800+30A>T 0.74381 0.5784 0.830770 0.7675 0.5649 Uncertain 13_42701803_G->A 13 42701803 42701803 G A snp 1083.77 1/1 81 33 0 33 1.0 intronic rs957255 DGKH AU NM_001204504 exon3 c.78800+94G>A 0.361621 0.1141 Uncertain 13_42703682_T->C 13 42703682 42703682 T C snp 2774.77 1/1 99 106 4 102 0.96 splicing rs3742261 DGKH AU NM_001204504 exon4 c.80778-5T>C 0.315096 0.1855 0.359142 0.4365 0.2072 Pathogenic 13_42734389_C->G 13 42734389 42734389 C G snp 2105.77 1/1 99 65 1 64 0.98 intronic rs10492444 DGKH AU NM_001204504 exon8 c.111363+117C>G 0.116813 0.0972 Uncertain 13_42740933_A->G 13 42740933 42740933 A G snp 99.28 1/1 9 3 0 3 1.0 intronic rs13378817 DGKH AU NM_001204504 exon10 c.117901+123A>G 0.128395 0.0972 Uncertain 13_42764439_T->C 13 42764439 42764439 T C snp 1401.77 1/1 99 41 0 41 1.0 intronic rs1170119 DGKH AU NM_001204504 exon17 c.141629-99T>C 0.881589 0.8859 Uncertain 13_42772717_G->T 13 42772717 42772717 G T snp 2559.77 1/1 99 91 1 90 0.99 exonic rs9533031 DGKH AU synonymous SNV NM_001297429 exon14 c.G1536T p.P512P 0.401757 0.3492 0.518145 0.4729 0.3616 Uncertain 13_42772775_T->- 13 42772775 42772775 T - indel 173.14 0/1 10 26 2 24 0.92 intronic rs35298264 DGKH AU NM_001204504 exon19 c.149822+44delT 0.00179712 0.4589 0.4277 Uncertain 13_42780149_T->- 13 42780149 42780149 T - indel 232.73 0/1 99 50 25 25 0.5 intronic rs34351817 DGKH AU NM_001204504 exon22 c.157265-25delT 0.53734 0.5774 0.3577 0.3642 Uncertain 13_42783012_G->A 13 42783012 42783012 G A snp 90.28 1/1 9 4 0 4 1.0 intronic rs168329 DGKH AU NM_001204504 exon23 c.160185-82G>A 0.94349 0.9435 Uncertain 13_42790048_C->G 13 42790048 42790048 C G snp 50.74 1/1 6 2 0 2 1.0 intronic rs4619294 DGKH AU NM_001204504 exon27 c.166894+245C>G 0.20647 0.1458 Uncertain 13_42793298_G->T 13 42793298 42793298 G T snp 3240.77 1/1 99 113 1 112 0.99 intronic rs9315899 DGKH AU NM_001204504 exon28 c.170456-67G>T 0.204073 0.1448 Uncertain 13_42793479_G->A 13 42793479 42793479 G A snp 3565.77 1/1 99 129 0 129 1.0 exonic rs180870 DGKH AU synonymous SNV NM_001297429 exon23 c.G2592A p.E864E 0.626797 0.7341 0.660311 0.6382 0.7688 Uncertain 13_42793767_GGTTTTTC->- 13 42793767 42793774 GGTTTTTC - indel 3000.73 1/1 81 27 0 27 1.0 intronic rs11277175 DGKH AU NM_001204504 exon29 c.170912-54_170912-47delGGTTTTTC 0.686302 0.8909 Uncertain 13_42794004_G->A 13 42794004 42794004 G A snp 3278.77 1/1 99 124 2 122 0.98 intronic rs347382 DGKH AU NM_001204504 exon29 c.171021+74G>A 0.808307 0.9167 Uncertain 13_42803341_T->C 13 42803341 42803341 T C snp 2631.77 1/1 99 110 0 110 1.0 UTR3 rs545602 DGKH AU 0.810304 0.9732 0.805705 0.7898 0.9689 Uncertain 13_42866795_A->G 13 42866795 42866795 A G snp 137.77 0/1 99 11 6 5 0.45 intronic rs77450477 AKAP11 AU NM_016248 exon4 c.6153+158A>G 0.113818 0.123 Uncertain 13_42869720_-->G 13 42869720 42869720 - G indel 287.73 0/1 99 19 10 9 0.47 intronic rs3835266 AKAP11 AU NM_016248 exon5 c.9346-110insG 0.704673 0.7976 Uncertain 13_42870010_C->T 13 42870010 42870010 C T snp 445.77 0/1 99 36 20 16 0.44 intronic rs61959442 AKAP11 AU NM_016248 exon5 c.9394+132C>T 0.134784 0.1716 Uncertain 13_42872719_A->G 13 42872719 42872719 A G snp 2087.77 0/1 99 207 114 93 0.45 exonic rs2273952 AKAP11 AU synonymous SNV NM_016248 exon7 c.A402G p.P134P 0.113818 0.123 0.123193 0.1366 0.1060 Uncertain 13_42872779_C->T 13 42872779 42872779 C T snp 2945.77 0/1 99 250 132 118 0.47 exonic rs2273951 AKAP11 AU synonymous SNV NM_016248 exon7 c.C462T p.Y154Y 0.113818 0.123 0.123174 0.1366 0.1063 Uncertain 13_42876127_G->T 13 42876127 42876127 G T snp 2524.77 0/1 99 213 114 99 0.46 exonic rs150773395 AKAP11 AU nonsynonymous SNV NM_016248 exon8 c.G3245T p.G1082V 0.00239617 0.0119 0.0017 0.0225 0.18 T 0.982 D -1.069 T 0.01 T 0.016 T Pathogenic 13_42877265_G->C 13 42877265 42877265 G C snp 2777.77 0/1 99 240 128 112 0.47 exonic rs9315906 AKAP11 AU synonymous SNV NM_016248 exon8 c.G4383C p.L1461L 0.134784 0.1716 0.123328 0.1464 0.1631 Uncertain 13_42882620_C->T 13 42882620 42882620 C T snp 467.77 0/1 99 49 27 22 0.45 exonic rs17521586 AKAP11 AU synonymous SNV NM_016248 exon9 c.C5148T p.T1716T 0.114217 0.123 0.123328 0.1367 0.1062 Uncertain 13_42882762_A->G 13 42882762 42882762 A G snp 373.77 0/1 99 32 16 16 0.5 intronic rs238314 AKAP11 AU NM_016248 exon9 c.22261+17A>G 0.841653 0.8313 0.870291 0.8779 0.8336 Uncertain 13_43148565_T->C 13 43148565 43148565 T C snp 395.77 0/1 99 47 28 19 0.4 exonic rs2296533 TNFSF11 AR synonymous SNV NM_003701 exon1 c.T126C p.P42P 0.465455 0.4444 0.386149 0.5236 0.5327 Uncertain 13_43155168_G->A 13 43155168 43155168 G A snp 384.77 1/1 30 13 0 13 1.0 intronic rs2277438 TNFSF11 AR NM_003701 exon2 c.6822-93G>A 0.788339 0.6974 Uncertain 13_43155443_G->A 13 43155443 43155443 G A snp 2691.77 1/1 99 91 0 91 1.0 intronic rs2277439 TNFSF11 AR NM_003701 exon2 c.6990+14G>A 0.788339 0.6974 0.824850 0.8115 0.6968 Uncertain 13_43358176_G->A 13 43358176 43358176 G A snp 1850.77 1/1 52 81 4 77 0.95 intronic rs1324422 FAM216B AU 0.207069 0.3204 0.154083 0.2156 0.3316 Uncertain 13_43358437_C->A 13 43358437 43358437 C A snp 384.77 1/1 30 16 0 16 1.0 intronic rs1853637 FAM216B AU NM_182508 exon2 c.99+135C>A 0.206869 0.3194 Uncertain 13_43462422_A->T 13 43462422 43462422 A T snp 1297.77 0/1 99 117 65 52 0.44 exonic rs1044856 EPSTI1 AU nonsynonymous SNV NM_001002264 exon13 c.T1197A p.N399K 0.157348 0.126 0.247886 0.2641 0.1474 0 D 1.000 P -1.042 T 0.992 D 0.876 D Pathogenic 13_43463299_T->C 13 43463299 43463299 T C snp 926.77 0/1 99 115 67 48 0.42 intronic rs1323864 EPSTI1 AU NM_001002264 exon2 c.961-47T>C 0.677516 0.8065 0.537829 0.5803 0.8021 Uncertain 13_43469157_G->A 13 43469157 43469157 G A snp 1918.77 0/1 99 195 109 86 0.44 exonic rs1128105 EPSTI1 AU synonymous SNV NM_033255 exon10 c.C903T p.S301S 0.460264 0.62 0.348070 0.3802 0.6118 Uncertain 13_43469211_G->A 13 43469211 43469211 G A snp 1691.77 0/1 99 205 122 83 0.4 exonic rs1359184 EPSTI1 AU synonymous SNV NM_033255 exon10 c.C849T p.G283G 0.469848 0.62 0.361295 0.3905 0.6127 Uncertain 13_43474371_C->T 13 43474371 43474371 C T snp 3760.77 1/1 99 132 0 132 1.0 intronic rs4942174 EPSTI1 AU NM_033255 exon3 c.11816-74C>T 1 1 Uncertain 13_43491871_C->T 13 43491871 43491871 C T snp 383.77 0/1 99 44 27 17 0.39 intronic rs17621929 EPSTI1 AU NM_033255 exon4 c.29131+111C>T 0.209864 0.1091 Uncertain 13_43491940_C->T 13 43491940 43491940 C T snp 118.77 0/1 99 15 10 5 0.33 intronic rs12864209 EPSTI1 AU NM_033255 exon4 c.29131+180C>T 0.45647 0.5327 Uncertain 13_43500350_A->C 13 43500350 43500350 A C snp 582.77 0/1 99 58 37 21 0.36 intronic rs41288319 EPSTI1 AU NM_033255 exon5 c.37842-121A>C 0.066893 0.0625 Uncertain 13_43500379_A->G 13 43500379 43500379 A G snp 1583.77 0/1 99 99 33 66 0.67 intronic rs139879153 EPSTI1 AU NM_033255 exon5 c.37842-92A>G 0.000599042 0.003 Uncertain 13_43537240_A->G 13 43537240 43537240 A G snp 37.77 0/1 66 7 5 2 0.29 intronic rs1054813 EPSTI1 AU NM_033255 exon7 c.74761-150A>G 0.605232 0.7748 Uncertain 13_43537246_C->T 13 43537246 43537246 C T snp 37.77 0/1 66 7 5 2 0.29 intronic rs9562444 EPSTI1 AU NM_033255 exon7 c.74761-144C>T 0.323083 0.4593 Uncertain 13_43566373_A->C 13 43566373 43566373 A C snp 288.77 0/1 99 25 14 11 0.44 UTR5 rs3825511 EPSTI1 AU 0.532947 0.5337 Uncertain 13_43597706_C->T 13 43597706 43597706 C T snp 372.77 0/1 99 29 13 16 0.55 UTR5 rs17553284 DNAJC15 AU 0.117412 0.0843 Uncertain 13_43597865_A->G 13 43597865 43597865 A G snp 5381.77 1/1 99 208 0 208 1.0 exonic rs12015 DNAJC15 AU nonsynonymous SNV NM_013238 exon1 c.A103G p.R35G 0.235823 0.1002 0.296601 0.2704 0.1516 0.45 T 0.0 P -0.918 T 0.0 T 0.0 T Pathogenic 13_43597915_-->T 13 43597915 43597915 - T indel 4452.73 0/1 99 220 83 137 0.62 intronic rs769725022 DNAJC15 AU NM_013238 exon1 c.108+45insT 2.885e-05 0.0006 Uncertain 13_43597932_C->G 13 43597932 43597932 C G snp 2905.77 0/1 99 211 84 127 0.6 intronic rs2281777 DNAJC15 AU NM_013238 exon1 c.108+62C>G 0.173323 0.0833 Uncertain 13_43597977_C->G 13 43597977 43597977 C G snp 2384.77 0/1 99 160 60 100 0.63 intronic rs2281778 DNAJC15 AU NM_013238 exon1 c.108+107C>G 0.173722 0.0833 Uncertain 13_43597980_G->A 13 43597980 43597980 G A snp 4292.77 1/1 99 157 0 157 1.0 intronic rs2281779 DNAJC15 AU NM_013238 exon1 c.108+110G>A 0.263578 0.2133 Uncertain 13_43597995_G->T 13 43597995 43597995 G T snp 1823.77 0/1 99 123 46 77 0.63 intronic rs2281780 DNAJC15 AU NM_013238 exon1 c.108+125G>T 0.158347 0.0833 Uncertain 13_43598039_G->T 13 43598039 43598039 G T snp 656.77 0/1 99 62 37 25 0.4 intronic rs2281781 DNAJC15 AU NM_013238 exon1 c.108+169G>T 0.0760783 0.0843 Uncertain 13_43639779_C->A 13 43639779 43639779 C A snp 560.77 0/1 99 27 6 21 0.78 intronic rs17064111 DNAJC15 AU NM_013238 exon2 c.42059-42C>A 0.0419329 0.1111 0.012458 0.0173 0.1184 ID=COSN164480;OCCURENCE=1(NS) Uncertain 13_43660044_-->ATT 13 43660044 43660044 - ATT indel 1516.73 1/1 81 28 0 28 1.0 intronic rs141024500 DNAJC15 AU NM_013238 exon5 c.62212+70insATT Uncertain 13_43788031_C->T 13 43788031 43788031 C T snp 452.77 0/1 99 45 27 18 0.4 UTR3 rs1044753 ENOX1 AU 0.453275 0.5446 Uncertain 13_43788036_T->G 13 43788036 43788036 T G snp 891.77 0/1 99 47 18 29 0.62 UTR3 rs703206 ENOX1 AU 0.509984 0.4554 Uncertain 13_43788158_G->A 13 43788158 43788158 G A snp 2339.77 0/1 99 214 113 101 0.47 exonic rs703207 ENOX1 AU synonymous SNV NM_017993 exon17 c.C1900T p.L634L 0.731629 0.7153 0.815547 0.7972 0.7003 Uncertain 13_43798406_C->T 13 43798406 43798406 C T snp 262.8 1/1 21 7 0 7 1.0 intronic rs1037023 ENOX1 AU NM_017993 exon2 c.10149+132C>T 0.798323 0.879 Uncertain 13_43839494_G->A 13 43839494 43839494 G A snp 6152.77 1/1 99 218 0 218 1.0 intronic rs4306408 ENOX1 AU NM_017993 exon4 c.51408-39G>A 0.967452 1 0.965324 0.9909 1 Uncertain 13_43843500_T->C 13 43843500 43843500 T C snp 3326.77 1/1 99 106 0 106 1.0 intronic rs2289777 ENOX1 AU NM_017993 exon5 c.55480-105T>C 0.233027 0.5546 Uncertain 13_43872419_C->T 13 43872419 43872419 C T snp 682.77 1/1 51 23 0 23 1.0 intronic rs4451860 ENOX1 AU NM_017993 exon6 c.84356-62C>T 0.943291 1 Uncertain 13_43930337_A->G 13 43930337 43930337 A G snp 1735.77 0/1 99 116 44 72 0.62 intronic rs2281713 ENOX1 AU NM_017993 exon10 c.142163+49A>G 0.860024 0.88 0.834615 0.8482 0.8508 Uncertain 13_43934322_A->- 13 43934322 43934322 A - indel 217.8 1/1 18 7 0 7 1.0 intronic rs3215734 ENOX1 AU NM_017993 exon11 c.146068+129delA 0.851837 0.8353 Uncertain 13_43935405_C->T 13 43935405 43935405 C T snp 1234.77 0/1 99 107 50 57 0.53 intronic rs1535580 ENOX1 AU NM_017993 exon12 c.147289-9C>T 0.491613 0.3294 0.546748 0.5212 0.3091 Uncertain 13_43986771_G->A 13 43986771 43986771 G A snp 85.77 0/1 69 6 2 4 0.67 intronic rs2296041 ENOX1 AU NM_017993 exon14 c.198855-209G>A 0.728435 0.7341 Uncertain 13_44433700_G->A 13 44433700 44433700 G A snp 292.78 1/1 24 11 0 11 1.0 intronic rs1562216 CCDC122 AU NM_144974 exon3 c.22392-107G>A 0.863419 0.7946 Uncertain 13_44734696_A->G 13 44734696 44734696 A G snp 2525.77 1/1 99 86 0 86 1.0 intronic rs4942287 SMIM2 AU NM_024058 exon2 c.16685-42A>G 0.23722 0.5863 0.1823 0.5469 Uncertain 13_44948300_C->G 13 44948300 44948300 C G snp 264.77 0/1 99 18 6 12 0.67 intronic rs61947533 SERP2 AU NM_001010897 exon1 c.84+55C>G 1 1 Uncertain 13_44948301_G->C 13 44948301 44948301 G C snp 166.77 0/1 96 17 6 11 0.65 intronic rs61947534 SERP2 AU NM_001010897 exon1 c.84+56G>C 1 1 Uncertain 13_44948303_A->G 13 44948303 44948303 A G snp 272.77 0/1 99 15 4 11 0.73 intronic rs61947535 SERP2 AU NM_001010897 exon1 c.84+58A>G 1 1 Uncertain 13_44964723_C->T 13 44964723 44964723 C T snp 825.77 1/1 60 26 0 26 1.0 intronic rs2281848 SERP2 AU NM_001010897 exon3 c.23246-6684C>T 0.914137 0.9306 Uncertain 13_44969907_G->A 13 44969907 44969907 G A snp 4246.77 1/1 99 162 0 162 1.0 intronic rs1467624 SERP2 AU NM_001010897 exon3 c.23246-1500G>A 0.964058 0.9524 0.9695 0.9293 Uncertain 13_44971343_C->G 13 44971343 44971343 C G snp 446.77 0/1 99 42 23 19 0.45 intronic rs2296272 SERP2 AU NM_001010897 exon3 c.23246-64C>G 0.0153754 0.0585 Uncertain 13_45010283_T->G 13 45010283 45010283 T G snp 2804.77 1/1 99 95 0 95 1.0 intronic rs1555781 TSC22D1 AU NM_006022 exon2 c.1470+52T>G 0.990649 0.9844 0.9557 Uncertain 13_45010616_G->A 13 45010616 45010616 G A snp 870.77 0/1 99 62 27 35 0.56 intronic rs7997320 TSC22D1 AU NM_006022 exon3 c.1878-23G>A 0.324281 0.3264 0.359526 0.3680 0.3191 Uncertain 13_45090478_A->C 13 45090478 45090478 A C snp 863.77 0/1 99 82 47 35 0.43 intronic rs1336163 TSC22D1 AU NM_001243798 exon3 c.39676+42041A>C 0.416334 0.3552 0.473298 0.4818 0.3726 Uncertain 13_45090580_C->T 13 45090580 45090580 C T snp 345.78 1/1 27 10 0 10 1.0 intronic rs1336164 TSC22D1 AU NM_001243798 exon3 c.39676+42143C>T 0.988618 1 Uncertain 13_45515395_G->A 13 45515395 45515395 G A snp 221.77 0/1 99 21 12 9 0.43 exonic rs17066360 NUFIP1 AU synonymous SNV NM_012345 exon10 c.C1434T p.I478I 0.0998403 0.1875 0.072736 0.0545 0.1975 Uncertain 13_45515484_G->C 13 45515484 45515484 G C snp 615.77 0/1 99 49 21 28 0.57 intronic rs41288341 NUFIP1 AU NM_012345 exon1 c.117+27G>C 0.0547125 0.1121 0.026065 0.0452 0.1204 Uncertain 13_45553121_A->T 13 45553121 45553121 A T snp 123.78 0/1 27 5 1 4 0.8 intronic rs9526027 NUFIP1 AU NM_012345 exon6 c.37984-203A>T 0.0772764 0.1786 Uncertain 13_45555062_C->T 13 45555062 45555062 C T snp 527.77 0/1 99 61 37 24 0.39 intronic rs17066376 NUFIP1 AU NM_012345 exon8 c.39615+107C>T 0.0545128 0.1101 Uncertain 13_45582876_T->G 13 45582876 45582876 T G snp 339.77 0/1 99 22 9 13 0.59 intronic rs73181511 GPALPP1 AU NM_018559 exon4 c.19140-53T>G 0.0822684 0.1111 0.056310 Uncertain 13_45582878_T->A 13 45582878 45582878 T A snp 342.77 0/1 99 22 9 13 0.59 intronic rs73181513 GPALPP1 AU NM_018559 exon4 c.19140-51T>A 0.0822684 0.1111 0.048854 Uncertain 13_45589515_A->G 13 45589515 45589515 A G snp 126.77 0/1 99 13 8 5 0.38 intronic rs11147961 GPALPP1 AU NM_018559 exon6 c.25777-51A>G 0.0822684 0.1111 0.044836 Uncertain 13_45589854_G->A 13 45589854 45589854 G A snp 226.77 0/1 99 12 5 7 0.58 intronic rs3783148 GPALPP1 AU NM_018559 exon6 c.25942+123G>A 0.184505 0.255 Uncertain 13_45594425_C->T 13 45594425 45594425 C T snp 100.77 0/1 99 22 17 5 0.23 intronic rs73181522 GPALPP1 AU NM_018559 exon7 c.30675-39C>T 0.0732827 0.1101 0.042154 0.0489 0.1171 Uncertain 13_45710765_C->T 13 45710765 45710765 C T snp 421.77 0/1 99 23 8 15 0.65 intronic rs3803244 GTF2F2 AU NM_004128 exon2 c.16077-102C>T 0.0527157 0.1022 Uncertain 13_45826876_A->G 13 45826876 45826876 A G snp 56.74 1/1 6 2 0 2 1.0 intronic rs7982845 GTF2F2 AU NM_004128 exon6 c.132215-129A>G 0.766174 0.872 Uncertain 13_45912634_T->C 13 45912634 45912634 T C snp 636.77 0/1 99 49 21 28 0.57 intronic rs9595305 TPT1 AU NM_003295 exon2 c.1274-160T>C 0.455871 0.2153 Uncertain 13_45914957_T->C 13 45914957 45914957 T C snp 1428.77 0/1 99 136 73 63 0.46 intronic rs2234216 TPT1 AU NM_003295 exon5 c.3400+37T>C 0.602436 0.3353 0.707005 0.6165 0.3713 Uncertain 13_45978675_C->T 13 45978675 45978675 C T snp 119.8 0/1 21 5 1 4 0.8 intronic rs9534140 SLC25A30 AU NM_001286807 exon6 c.8439+128C>T 0.202676 0.126 Uncertain 13_45980223_-->T 13 45980223 45980223 - T indel 86.73 0/1 53 14 3 11 0.79 intronic rs35419409 SLC25A30 AU NM_001286807 exon7 c.10004+111insT 0.209864 0.1597 Uncertain 13_45982934_G->A 13 45982934 45982934 G A snp 192.77 0/1 99 10 4 6 0.6 intronic rs6561227 SLC25A30 AU NM_001286806 exon8 c.12953-127G>A 0.455671 0.2192 Uncertain 13_45985705_G->A 13 45985705 45985705 G A snp 31.77 0/1 60 8 5 3 0.38 intronic rs4941527 SLC25A30 AU NM_001286807 exon8 c.15507+90G>A 0.202476 0.128 Uncertain 13_46050519_T->C 13 46050519 46050519 T C snp 2145.77 1/1 99 75 0 75 1.0 intronic rs2986001 COG3 AU NM_031431 exon2 c.11311+37T>C 0.367412 0.497 0.373751 0.4117 0.5058 Uncertain 13_46056348_C->T 13 46056348 46056348 C T snp 56.74 1/1 6 2 0 2 1.0 intronic rs2985952 COG3 AU NM_031431 exon6 c.17344-167C>T 0.366613 0.496 Uncertain 13_46060460_C->- 13 46060460 46060460 C - indel 130.73 0/1 99 20 14 6 0.3 intronic rs377431601 COG3 AU NM_031431 exon8 c.21458-169delC Uncertain 13_46060467_C->- 13 46060467 46060467 C - indel 167.73 0/1 99 22 16 6 0.27 intronic rs66814287 COG3 AU NM_031431 exon8 c.21458-162delC Uncertain 13_46060474_C->- 13 46060474 46060474 C - indel 974.73 1/1 60 25 1 24 0.96 intronic rs113621277 COG3 AU NM_031431 exon8 c.21458-155delC 0.898363 0.8839 Uncertain 13_46066163_T->C 13 46066163 46066163 T C snp 2008.77 1/1 99 64 0 64 1.0 intronic rs3014948 COG3 AU NM_031431 exon11 c.27122-130T>C 0.687101 0.7798 Uncertain 13_46067593_G->A 13 46067593 46067593 G A snp 2146.77 1/1 99 80 0 80 1.0 exonic rs2985959 COG3 AU synonymous SNV NM_031431 exon12 c.G1299A p.E433E 0.360423 0.495 0.368522 0.4091 0.5029 Uncertain 13_46077301_G->A 13 46077301 46077301 G A snp 358.78 1/1 27 14 0 14 1.0 intronic rs3014959 COG3 AU NM_031431 exon14 c.38207-77G>A 0.861821 0.881 Uncertain 13_46077381_G->A 13 46077381 46077381 G A snp 1138.77 1/1 81 41 0 41 1.0 exonic rs3014960 COG3 AU synonymous SNV NM_031431 exon14 c.G1491A p.Q497Q 0.903355 0.8899 0.904275 0.8893 0.8743 Uncertain 13_46085699_G->A 13 46085699 46085699 G A snp 563.77 1/1 42 17 0 17 1.0 intronic rs2985969 COG3 AU NM_031431 exon16 c.46728-200G>A 0.90655 0.8899 Uncertain 13_46085864_A->G 13 46085864 46085864 A G snp 3247.77 1/1 99 133 0 133 1.0 intronic rs2985970 COG3 AU NM_031431 exon16 c.46728-35A>G 0.865016 0.881 0.868445 0.8801 0.8680 Uncertain 13_46098956_T->- 13 46098956 46098956 T - indel 164.8 1/1 18 6 0 6 1.0 intronic rs34702079 COG3 AU NM_031431 exon20 c.59939-154delT 0.33147 0.4871 Uncertain 13_46098994_T->C 13 46098994 46098994 T C snp 948.77 1/1 72 25 0 25 1.0 intronic rs3014966 COG3 AU NM_031431 exon20 c.59939-116T>C 0.682109 0.7798 Uncertain 13_46099243_A->G 13 46099243 46099243 A G snp 3187.75 1/1 99 120 0 120 1.0 intronic rs2985984 COG3 AU NM_031431 exon20 c.60015+57A>G 0.685903 0.7798 0.680026 Uncertain 13_46103935_A->G 13 46103935 46103935 A G snp 3566.77 1/1 99 122 0 122 1.0 exonic rs2274285 COG3 AU nonsynonymous SNV NM_031431 exon21 c.A2240G p.N747S 0.681909 0.7798 0.667922 0.7449 0.7581 0.82 T 0.007 P -0.942 T 0.0 T 0.0 T Pathogenic 13_46104130_G->C 13 46104130 46104130 G C snp 2306.77 1/1 99 72 2 70 0.97 intronic rs2274286 COG3 AU NM_031431 exon21 c.64882+77G>C 0.849241 0.881 Uncertain 13_46108643_T->C 13 46108643 46108643 T C snp 185.18 0/1 10 7 1 6 0.86 intronic rs3014901 COG3 AU NM_031431 exon23 c.69665-193T>C 0.680312 0.7778 Uncertain 13_46108853_T->C 13 46108853 46108853 T C snp 2901.77 1/1 99 110 0 110 1.0 exonic rs3014902 COG3 AU nonsynonymous SNV NM_031431 exon23 c.T2474C p.L825S 0.998203 1 0.997998 0.9991 1 1 T 1.000 P -0.965 T 0.0 T 0.0 T Pathogenic 13_46108854_G->A 13 46108854 46108854 G A snp 2884.77 1/1 99 109 0 109 1.0 exonic rs2985989 COG3 AU synonymous SNV NM_031431 exon23 c.G2475A p.L825L 0.813698 0.881 0.788728 0.8390 0.8798 Uncertain 13_46115731_C->A 13 46115731 46115731 C A snp 2252.77 1/1 99 87 1 86 0.99 exonic rs1536207 ERICH6B AU nonsynonymous SNV NM_182542 exon15 c.G1957T p.V653F 0.368411 0.5645 0.4028 0.5595 0 D 0.0 P -0.991 T 0.981 D 0.74 D Pathogenic 13_46124290_T->A 13 46124290 46124290 T A snp 5749.77 1/1 99 218 0 218 1.0 intronic rs2860345 ERICH6B AU NM_182542 exon4 c.8769-75T>A 0.699281 0.7569 Uncertain 13_46137837_T->C 13 46137837 46137837 T C snp 3123.77 1/1 99 105 0 105 1.0 intronic rs3014917 ERICH6B AU NM_182542 exon6 c.22265-24T>C 0.604233 0.6627 0.493211 0.5346 0.6768 Uncertain 13_46148855_A->G 13 46148855 46148855 A G snp 730.77 1/1 54 22 0 22 1.0 intronic rs747652 ERICH6B AU NM_182542 exon8 c.33380-121A>G 0.713059 0.7679 Uncertain 13_46287153_A->C 13 46287153 46287153 A C snp 108.77 0/1 99 9 5 4 0.44 intronic rs9316154 SPERT AU NM_152719 exon3 c.10791-163A>C 0.705272 0.503 Uncertain 13_46287899_C->T 13 46287899 46287899 C T snp 1260.77 0/1 99 112 59 53 0.47 exonic rs551633420 SPERT AU synonymous SNV NM_152719 exon3 c.C739T p.L247L 0.000199681 0.001 8.352e-05 0.0009 Uncertain 13_46288017_C->A 13 46288017 46288017 C A snp 488.77 0/1 99 57 35 22 0.39 exonic rs79707842 SPERT AU stopgain NM_152719 exon3 c.C857A p.S286X 0.061901 0.0982 0.039428 0.0753 0.1325 1 T 1.000 P Pathogenic 13_46288145_A->G 13 46288145 46288145 A G snp 1062.77 0/1 99 102 54 48 0.47 exonic rs7317245 SPERT AU nonsynonymous SNV NM_152719 exon3 c.A985G p.K329E 0.494609 0.5 0.609112 0.6691 0.5816 1 T 0.000 P -0.935 T 0.0 T 0.0 T Pathogenic 13_46358321_AACA->- 13 46358321 46358324 AACA - indel 424.75 1/1 24 15 0 15 1.0 intronic rs10578981 SIAH3 AU NM_198849 exon1 c.675+129_675+132delAACA Uncertain 13_46425851_C->T 13 46425851 46425851 C T snp 140.77 0/1 99 14 9 5 0.36 upstream rs9567585 SIAH3 AU 0.0277556 0.0784 Uncertain 13_46541673_T->A 13 46541673 46541673 T A snp 580.77 0/1 99 47 24 23 0.49 exonic rs9534264 ZC3H13 AU nonsynonymous SNV NM_015070 exon15 c.A4287T p.E1429D 0.78095 0.8046 0.743426 0.7341 0.8160 1 T 0.0 P -0.965 T 0.0 T 0.0 T Pathogenic 13_46550061_-->T 13 46550061 46550061 - T indel 626.73 1/1 45 15 0 15 1.0 intronic rs11428563 ZC3H13 AU NM_015070 exon6 c.12017+88insT 1 1 Uncertain 13_46562935_A->G 13 46562935 46562935 A G snp 2010.77 0/1 99 161 81 80 0.5 exonic rs1134071 ZC3H13 AU synonymous SNV NM_015070 exon9 c.T1242C p.H414H 0.782149 0.8046 0.744810 0.7318 0.8164 Uncertain 13_46616462_A->C 13 46616462 46616462 A C snp 338.77 0/1 99 25 12 13 0.52 intronic rs3783200 ZC3H13 AU NM_015070 exon14 c.78454+52A>C 0.292133 0.2589 0.332508 0.3195 0.2695 Uncertain 13_46619026_T->C 13 46619026 46619026 T C snp 681.77 0/1 99 54 26 28 0.52 intronic rs962694 ZC3H13 AU NM_015070 exon15 c.81133-63T>C 0.793331 0.8046 Uncertain 13_46627677_T->C 13 46627677 46627677 T C snp 1456.77 1/1 99 44 0 44 1.0 ncRNA_intronic rs1049669 CPB2-AS1 AU 0.978435 1 ID=CR080757;DIS=Decreased mRNA stability;TAG=FP;PUB=17855631 FP Uncertain 13_46629944_A->G 13 46629944 46629944 A G snp 1092.77 0/1 99 131 76 55 0.42 exonic rs1926447 CPB2 AU nonsynonymous SNV NM_001872 exon10 c.T1040C p.I347T 0.783147 0.8065 0.757075 0.7416 0.8175 0.48 T 0.0 P -1.016 T 0.0 T 0.001 T ID=CM013697;DIS=Acute coronary syndrome, association with;TAG=DFP;PUB=19699511 DFP Pathogenic 13_46629995_C->A 13 46629995 46629995 C A snp 1183.77 0/1 99 119 67 52 0.44 ncRNA_intronic rs1926446 CPB2-AS1 AU 0.783746 0.8056 0.755383 0.7414 0.8170 Uncertain 13_46632226_A->C 13 46632226 46632226 A C snp 94.28 1/1 9 4 0 4 1.0 ncRNA_intronic rs2296641 CPB2-AS1 AU 0.797324 0.8056 Uncertain 13_46641325_A->- 13 46641325 46641325 A - indel 100.73 0/1 99 10 5 5 0.5 ncRNA_intronic rs151045790 CPB2-AS1 AU 0.306709 0.2569 Uncertain 13_46641466_A->G 13 46641466 46641466 A G snp 2074.77 0/1 99 221 116 105 0.48 exonic rs9316179 CPB2 AU synonymous SNV NM_001872 exon7 c.T678C p.D226D 0.307508 0.2569 0.345533 0.3111 0.2634 Uncertain 13_46641481_T->C 13 46641481 46641481 T C snp 2036.77 0/1 99 219 120 99 0.45 exonic rs7337140 CPB2 AU synonymous SNV NM_001872 exon7 c.A663G p.P221P 0.806709 0.8234 0.784715 0.7649 0.8338 Uncertain 13_46641685_A->G 13 46641685 46641685 A G snp 38.77 0/1 67 5 3 2 0.4 ncRNA_intronic rs9316180 CPB2-AS1 AU 0.307508 0.2569 Uncertain 13_46648094_C->T 13 46648094 46648094 C T snp 1388.77 0/1 99 125 66 59 0.47 exonic rs3742264 CPB2 AU nonsynonymous SNV NM_001872 exon6 c.G505A p.A169T 0.307308 0.256 0.345687 0.3116 0.2608 0.65 T 0.0 P -0.901 T 0.0 T 0.0 T ID=CM063919;DIS=Higher TAFI antigen levels;TAG=DFP;PUB=11264171 DFP Pathogenic 13_46656669_A->G 13 46656669 46656669 A G snp 1093.77 0/1 99 83 40 43 0.52 exonic rs2296642 CPB2 AU synonymous SNV NM_001872 exon4 c.T291C p.D97D 0.798722 0.8185 0.779563 0.7631 0.8281 Uncertain 13_46708291_T->C 13 46708291 46708291 T C snp 2953.77 0/1 99 250 130 120 0.48 exonic rs4941543 LCP1 AU nonsynonymous SNV NM_002298 exon14 c.A1597G p.K533E 0.876597 0.9077 0.867215 0.9058 0.9006 0.07 T 0.0 P -0.864 T 0.0 T 0.004 T Pathogenic 13_46728771_T->C 13 46728771 46728771 T C snp 223.77 0/1 99 13 6 7 0.54 intronic rs4258501 LCP1 AU NM_002298 exon11 c.27214-168T>C 0.607827 0.5863 Uncertain 13_46836201_A->G 13 46836201 46836201 A G snp 322.78 1/1 24 13 0 13 1.0 intronic rs2764598 LRRC63 AU NM_001282460 exon8 c.48958+74A>G 0.983027 0.998 Uncertain 13_46919095_-->TG 13 46919095 46919095 - TG indel 259.8 1/1 18 6 0 6 1.0 intronic rs10682466 KIAA0226L AU NM_025113 exon2 c.1447+129insTG 0.461861 0.5923 Uncertain 13_46924597_A->G 13 46924597 46924597 A G snp 314.78 1/1 24 11 0 11 1.0 intronic rs2025412 KIAA0226L AU NM_025113 exon5 c.6967+111A>G 0.115815 0.3423 Uncertain 13_46928845_C->T 13 46928845 46928845 C T snp 4168.77 1/1 99 152 0 152 1.0 intronic rs4942515 KIAA0226L AU NM_025113 exon6 c.13047-1721C>T 0.167931 0.3403 Uncertain 13_46930536_C->A 13 46930536 46930536 C A snp 4492.77 1/1 99 166 1 165 0.99 intronic rs181977 KIAA0226L AU NM_025113 exon6 c.13047-30C>A 0.461661 0.5923 0.392588 0.3864 0.5859 Uncertain 13_46937193_T->C 13 46937193 46937193 T C snp 2058.77 1/1 99 77 0 77 1.0 intronic rs259699 KIAA0226L AU NM_025113 exon10 c.19730-56T>C 0.388578 0.5863 Uncertain 13_46942018_G->A 13 46942018 46942018 G A snp 182.9 1/1 15 5 0 5 1.0 intronic rs12584146 KIAA0226L AU NM_025113 exon11 c.24657-158G>A 0.096246 0.3433 Uncertain 13_46942081_A->G 13 46942081 46942081 A G snp 2757.77 1/1 99 88 0 88 1.0 intronic rs2476664 KIAA0226L AU NM_025113 exon11 c.24657-95A>G 0.451677 0.5933 Uncertain 13_46946157_C->T 13 46946157 46946157 C T snp 6449.77 1/1 99 231 2 229 0.99 exonic rs1408184 KIAA0226L AU nonsynonymous SNV NM_001286762 exon2 c.G454A p.G152R 0.451478 0.5923 0.380209 0.3793 0.5828 0.75 T 0.0 P -0.931 T 0.0 T 0.0 T Pathogenic 13_47127813_C->T 13 47127813 47127813 C T snp 402.77 0/1 99 29 13 16 0.55 exonic rs45540131 LRCH1 AU synonymous SNV NM_015116 exon1 c.C282T p.H94H 0.14996 0.1905 0.124336 0.1443 0.1947 Uncertain 13_47242969_T->A 13 47242969 47242969 T A snp 37.77 0/1 66 4 2 2 0.5 intronic rs9595508 LRCH1 AU NM_001164213 exon3 c.115633-195T>A 0.0215655 Uncertain 13_47256065_C->G 13 47256065 47256065 C G snp 62.77 0/1 91 13 10 3 0.23 intronic rs45439193 LRCH1 AU NM_001164213 exon4 c.128450+84C>G 0.305711 0.3661 Uncertain 13_47260054_T->C 13 47260054 47260054 T C snp 1969.77 1/1 99 69 0 69 1.0 exonic rs842381 LRCH1 AU nonsynonymous SNV NM_015116 exon5 c.T700C p.S234P 0.999201 1 0.998155 0.9987 1 1 T 0.618 P -0.931 T 0.0 T 0.0 T Pathogenic 13_47261970_T->C 13 47261970 47261970 T C snp 2162.77 1/1 99 81 0 81 1.0 intronic rs842375 LRCH1 AU NM_001164213 exon6 c.134455-16T>C 0.808107 0.8462 0.761802 0.7608 0.8521 Uncertain 13_47273458_G->C 13 47273458 47273458 G C snp 2879.77 1/1 99 98 0 98 1.0 intronic rs706621 LRCH1 AU NM_001164213 exon10 c.145939-12G>C 0.817093 0.8393 0.772720 0.7626 0.8380 Uncertain 13_47273781_G->A 13 47273781 47273781 G A snp 68.77 0/1 97 7 4 3 0.43 intronic rs17068648 LRCH1 AU NM_001164213 exon10 c.146007+243G>A 0.0455272 0.0893 Uncertain 13_47279375_-->T 13 47279375 47279375 - T indel 857.73 1/1 93 34 0 34 1.0 intronic rs11483731 LRCH1 AU NM_001164213 exon13 c.151871-27insT 0.806709 0.8373 0.7412 0.8252 Uncertain 13_47279454_A->G 13 47279454 47279454 A G snp 2247.77 1/1 99 78 0 78 1.0 intronic rs842387 LRCH1 AU NM_001164213 exon13 c.151908+15A>G 0.832468 0.8363 0.791173 0.7649 0.8364 Uncertain 13_47279680_-->T 13 47279680 47279680 - T indel 1744.73 1/1 99 61 0 61 1.0 intronic rs3832915 LRCH1 AU NM_001164213 exon13 c.151908+241insT 0.78754 0.8383 Uncertain 13_47285687_G->A 13 47285687 47285687 G A snp 139.03 1/1 12 4 0 4 1.0 intronic rs842386 LRCH1 AU NM_001164213 exon14 c.158394-238G>A 0.983027 1 Uncertain 13_47286938_C->G 13 47286938 47286938 C G snp 96.28 1/1 9 3 0 3 1.0 intronic rs2762130 LRCH1 AU NM_001164213 exon15 c.159201+206C>G 0.713658 0.7887 Uncertain 13_47297352_G->A 13 47297352 47297352 G A snp 2441.77 1/1 99 86 0 86 1.0 splicing rs7319836 LRCH1 AU NM_001164213 exon16 c.169824-3G>A 0.749401 0.9137 0.728817 0.7842 0.9298 Pathogenic 13_47302934_T->A 13 47302934 47302934 T A snp 807.77 0/1 99 84 50 34 0.4 intronic rs3742273 LRCH1 AU NM_001164213 exon17 c.175450-47T>A 0.622404 0.7341 0.675996 0.7724 0.7367 Uncertain 13_47308109_A->G 13 47308109 47308109 A G snp 670.77 1/1 48 30 0 30 1.0 exonic rs2298086 LRCH1 AU synonymous SNV NM_015116 exon18 c.A1956G p.A652A 0.911941 0.8849 0.946239 0.9674 0.8951 Uncertain 13_47315984_T->C 13 47315984 47315984 T C snp 1358.77 1/1 99 43 0 43 1.0 UTR3 rs3742274 LRCH1 AU 0.905551 0.8829 0.939413 0.9658 0.8935 Uncertain 13_47345469_-->T 13 47345469 47345469 - T indel 196.74 1/1 25 13 1 12 0.92 UTR3 rs199682790 ESD AU 0.330471 0.4058 Uncertain 13_47354101_C->T 13 47354101 47354101 C T snp 4078.77 1/1 99 169 0 169 1.0 exonic rs9778 ESD AU nonsynonymous SNV NM_001984 exon8 c.G569A p.G190E 0.192093 0.4206 0.097186 0.1398 0.3943 0.11 T 1.000 P -0.961 T 0.685 T 0.301 P Pathogenic 13_47355524_A->G 13 47355524 47355524 A G snp 345.78 1/1 27 10 0 10 1.0 intronic rs2275680 ESD AU NM_001984 exon4 c.10080-106A>G 0.196286 0.4216 Uncertain 13_47365388_G->T 13 47365388 47365388 G T snp 639.77 1/1 48 18 0 18 1.0 intronic rs997167 ESD AU NM_001984 exon8 c.19930-92G>T 0.202276 0.4226 Uncertain 13_47365450_-->T 13 47365450 47365450 - T indel 2169.73 1/1 99 52 0 52 1.0 intronic rs3831339 ESD AU NM_001984 exon8 c.19930-30insT 0.202276 0.4226 0.100911 0.1553 0.4023 Uncertain 13_47408902_-->T 13 47408902 47408902 - T indel 342.73 0/1 99 51 30 21 0.41 UTR3 rs397947348 HTR2A AU,AD,AO 0.296725 0.1895 Uncertain 13_47466781_T->G 13 47466781 47466781 T G snp 77.77 0/1 63 5 2 3 0.6 intronic rs2296973 HTR2A AU,AD,AO NM_000621 exon2 c.57754+56T>G 0.715655 0.6726 Uncertain 13_47469940_G->A 13 47469940 47469940 G A snp 2181.77 0/1 99 163 74 89 0.55 exonic rs6313 HTR2A AU,AD,AO synonymous SNV NM_000621 exon2 c.C102T p.S34S 0.441294 0.5883 0.400661 0.4071 0.5827 ID=CM960851;DIS=Schizophrenia, association with;TAG=DP;PUB=8622505 DP Uncertain 13_47470824_C->T 13 47470824 47470824 C T snp 4312.77 1/1 99 153 0 153 1.0 UTR5 rs6312 HTR2A AU,AD,AO 0.91893 1 0.902322 0.9206 0.9970 0 D 1.000 P -0.993 T 0.13 T 0.076 T Uncertain 13_48523567_T->C 13 48523567 48523567 T C snp 314.78 1/1 24 11 0 11 1.0 intronic rs17425881 SUCLA2 AR NM_003850 exon3 c.6112-50T>C 0.189097 0.2312 0.197524 0.1647 0.2579 Uncertain 13_48547467_A->T 13 48547467 48547467 A T snp 1693.77 1/1 99 60 0 60 1.0 exonic rs7320366 SUCLA2 AR nonsynonymous SNV NM_003850 exon5 c.T595A p.S199T 0.683506 0.8006 0.742042 0.7515 0.7925 1 T 0.000 P -0.928 T 0.0 T 0.001 T CLINSIG=non-pathogenic;CLNDBN=not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000128327.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Pathogenic 13_48563008_G->A 13 48563008 48563008 G A snp 480.77 1/1 36 16 0 16 1.0 intronic rs6561424 SUCLA2 AR NM_003850 exon9 c.45511-8G>A 0.683506 0.8006 0.741965 0.7515 0.7925 CLINSIG=non-pathogenic;CLNDBN=not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000128325.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Uncertain 13_48563246_A->G 13 48563246 48563246 A G snp 263.8 1/1 21 9 0 9 1.0 intronic rs6561425 SUCLA2 AR NM_003850 exon9 c.45611+130A>G 0.954473 0.998 Uncertain 13_48571213_C->T 13 48571213 48571213 C T snp 4769.77 1/1 99 165 0 165 1.0 intronic rs8001509 SUCLA2 AR NM_003850 exon10 c.53653+55C>T 0.942093 0.998 Uncertain 13_48575208_A->- 13 48575208 48575208 A - indel 5052.73 1/1 99 134 0 134 1.0 intronic rs11316376 SUCLA2 AR NM_003850 exon11 c.57810-107delA 1 1 Uncertain 13_48575292_C->T 13 48575292 48575292 C T snp 5096.77 1/1 99 205 2 203 0.99 intronic rs9567972 SUCLA2 AR NM_003850 exon11 c.57810-23C>T 0.66893 0.8006 0.736664 0.7982 0.8286 Uncertain 13_48627319_-->AAAGG 13 48627319 48627319 - AAAGG indel 511.73 0/1 99 24 16 8 0.33 intergenic rs530432718 NUDT15 AD 0.00179712 0.0089 Uncertain 13_48653865_A->- 13 48653865 48653865 A - indel 450.8 1/1 18 23 2 21 0.91 ncRNA_intronic rs398022665 MED4-AS1 AU Uncertain 13_48667878_C->G 13 48667878 48667878 C G snp 761.77 1/1 57 19 0 19 1.0 intronic rs9567994 MED4 AU NM_014166 exon7 c.17815-1211C>G 0.436701 0.4206 Uncertain 13_48669064_C->T 13 48669064 48669064 C T snp 1823.77 1/1 99 67 0 67 1.0 intronic rs3809330 MED4 AU NM_014166 exon7 c.17815-25C>T 0.310304 0.3135 0.274176 0.2238 0.3429 Uncertain 13_48830601_A->C 13 48830601 48830601 A C snp 631.77 0/1 99 42 17 25 0.6 intronic rs3818455 ITM2B AD NM_021999 exon3 c.23023+82A>C 0.170327 0.2341 Uncertain 13_48878271_T->C 13 48878271 48878271 T C snp 432.77 1/1 33 14 0 14 1.0 intronic rs2854351 RB1 AU,AD,AO NM_000321 exon1 c.137+86T>C 0.991014 0.999 Uncertain 13_48878292_G->A 13 48878292 48878292 G A snp 155.77 0/1 99 10 4 6 0.6 intronic rs2252544 RB1 AU,AD,AO NM_000321 exon1 c.137+107G>A 0.511382 0.627 Uncertain 13_48916895_C->T 13 48916895 48916895 C T snp 240.77 0/1 99 22 8 14 0.64 intronic rs520342 RB1 AU,AD,AO NM_000321 exon3 c.38802+45C>T 0.200679 0.2371 0.211491 0.2405 0.2373 ID=COSN164493;OCCURENCE=1(breast) Uncertain 13_48919358_T->G 13 48919358 48919358 T G snp 1180.77 1/1 84 47 0 47 1.0 intronic rs198617 RB1 AU,AD,AO NM_000321 exon4 c.41287+23T>G 0.913738 0.998 0.928318 0.9607 0.9973 Uncertain 13_48921884_A->G 13 48921884 48921884 A G snp 689.77 1/1 51 23 0 23 1.0 intronic rs198616 RB1 AU,AD,AO NM_000321 exon5 c.43912-76A>G 0.903355 0.998 0.922379 Uncertain 13_48947469_G->T 13 48947469 48947469 G T snp 1386.77 1/1 99 43 0 43 1.0 intronic rs185587 RB1 AU,AD,AO NM_000321 exon12 c.69492-71G>T 0.914337 0.998 Uncertain 13_48953655_-->A 13 48953655 48953655 - A indel 211.73 1/1 33 11 0 11 1.0 intronic rs11449461 RB1 AU,AD,AO NM_000321 exon14 c.75681-74insA 0.72524 0.752 Uncertain 13_48955659_-->AA 13 48955659 48955659 - AA indel 194.73 0/1 99 10 5 5 0.5 intronic rs398070292 RB1 AU,AD,AO NM_000321 exon17 c.77531+80insAA 0.215655 0.2371 Uncertain 13_48955676_T->A 13 48955676 48955676 T A snp 309.78 1/1 24 8 0 8 1.0 intronic rs2804086 RB1 AU,AD,AO NM_000321 exon17 c.77531+97T>A 0.907348 0.998 Uncertain 13_49033747_G->A 13 49033747 49033747 G A snp 1357.77 1/1 99 40 0 40 1.0 intronic rs198580 RB1 AU,AD,AO NM_000321 exon20 c.155775-76G>A 0.867212 0.998 Uncertain 13_49034023_TTC->- 13 49034023 49034025 TTC - indel 3785.73 1/1 99 106 0 106 1.0 intronic rs202040102 RB1 AU,AD,AO NM_000321 exon20 c.155921+54_155921+56delTTC Uncertain 13_49034086_TT->- 13 49034086 49034087 TT - indel 440.73 ./1 99 15 0 15 1.0 intronic RB1 AU,AD,AO NM_000321 exon20 c.155921+117_155921+118delTT Uncertain 13_49034086_T->- 13 49034086 49034086 T - indel 440.73 ./1 99 15 0 15 1.0 intronic rs371236734 RB1 AU,AD,AO NM_000321 exon20 c.155921+117delT Uncertain 13_49034105_CTC->- 13 49034105 49034107 CTC - indel 332.77 1/1 20 8 0 8 1.0 intronic RB1 AU,AD,AO NM_000321 exon20 c.155921+136_155921+138delCTC Uncertain 13_49034116_T->C 13 49034116 49034116 T C snp 69.77 0/1 98 9 6 3 0.33 intronic RB1 AU,AD,AO NM_000321 exon20 c.155921+147T>C Uncertain 13_49034120_T->C 13 49034120 49034120 T C snp 39.77 0/1 62 4 2 2 0.5 intronic rs533443426 RB1 AU,AD,AO NM_000321 exon20 c.155921+151T>C 0.0335463 0.0308 Uncertain 13_49051012_C->T 13 49051012 49051012 C T snp 5421.77 1/1 99 206 0 206 1.0 intronic rs3020646 RB1 AU,AD,AO NM_000321 exon25 c.172931+33C>T 0.884984 0.998 0.895817 0.9552 0.9975 Uncertain 13_49051481_T->A 13 49051481 49051481 T A snp 420.77 0/1 99 40 21 19 0.47 intronic rs3092904 RB1 AU,AD,AO NM_000321 exon26 c.173442-9T>A 0.188698 0.2371 0.195475 0.2603 0.2544 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000078639.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 ID=COSM147687;OCCURENCE=1(stomach) Uncertain 13_49077088_-->A 13 49077088 49077088 - A indel 3519.73 0/1 99 162 69 93 0.57 intronic rs9332043 RCBTB2 AU NM_001268 exon5 c.12804+38insA 0.480431 0.3492 0.475319 0.4127 0.4382 Uncertain 13_49089189_C->T 13 49089189 49089189 C T snp 43.77 0/1 66 4 2 2 0.5 intronic rs9331991 RCBTB2 AU NM_001268 exon10 c.25094-151C>T 0.109625 0.2014 Uncertain 13_49089223_T->C 13 49089223 49089223 T C snp 188.77 0/1 99 14 7 7 0.5 intronic rs9316388 RCBTB2 AU NM_001268 exon10 c.25094-117T>C 0.20647 0.2371 Uncertain 13_49089621_T->- 13 49089621 49089621 T - indel 92.73 0/1 64 11 3 8 0.73 intronic rs3215827 RCBTB2 AU NM_001268 exon11 c.25475-100delT 0.278754 0.2421 Uncertain 13_49107241_T->C 13 49107241 49107241 T C snp 5653.77 1/1 99 208 0 208 1.0 UTR5 rs7997110 RCBTB2 AU 0.933107 0.999 0.8684 1 Uncertain 13_49684341_-->T 13 49684341 49684341 - T indel 556.73 1/1 60 20 0 20 1.0 intronic rs201831815 FNDC3A AU NM_001278438 exon4 c.108464-4449insT 0.424521 0.4792 Uncertain 13_49752915_A->G 13 49752915 49752915 A G snp 56.74 1/1 6 2 0 2 1.0 intronic rs1407826 FNDC3A AU NM_014923 exon12 c.68255+125A>G 0.979433 0.9643 Uncertain 13_49833774_C->T 13 49833774 49833774 C T snp 167.9 1/1 15 5 0 5 1.0 intronic rs4942809 CDADC1 AU NM_001193478 exon4 c.11486+115C>T 0.322883 0.5119 Uncertain 13_49839889_A->G 13 49839889 49839889 A G snp 130.03 1/1 12 4 0 4 1.0 intronic rs9535182 CDADC1 AU NM_001193478 exon5 c.19452-1736A>G 0.341254 0.5119 Uncertain 13_49839979_G->A 13 49839979 49839979 G A snp 2385.77 1/1 99 84 0 84 1.0 intronic rs7326191 CDADC1 AU NM_001193478 exon5 c.19452-1646G>A 0.323482 0.5119 0.2616 0.5188 Uncertain 13_49840024_A->G 13 49840024 49840024 A G snp 3773.77 1/1 99 146 0 146 1.0 intronic rs6561512 CDADC1 AU NM_001193478 exon5 c.19452-1601A>G 0.953874 1 0.9890 1 0.069 P -1.020 T Uncertain 13_49852377_A->G 13 49852377 49852377 A G snp 1422.77 1/1 99 43 0 43 1.0 intronic rs2274150 CDADC1 AU NM_001193478 exon7 c.30312-108A>G 0.323882 0.5119 Uncertain 13_49865727_-->CC 13 49865727 49865727 - CC indel 2741.73 1/1 99 53 0 53 1.0 intronic rs143390986 CDADC1 AU NM_030911 exon10 c.43646-92insCC 0.323682 0.5129 Uncertain 13_49865748_A->G 13 49865748 49865748 A G snp 1852.77 1/1 99 65 0 65 1.0 intronic rs6561514 CDADC1 AU NM_030911 exon10 c.43646-71A>G 0.954872 1 Uncertain 13_49885216_A->G 13 49885216 49885216 A G snp 3263.77 1/1 99 96 0 96 1.0 intronic rs912547 CAB39L AU NM_030925 exon1 c.180+87A>G 0.988618 0.9563 Uncertain 13_49951027_-->TAGA 13 49951027 49951027 - TAGA indel 704.73 0/1 99 53 37 16 0.3 intronic rs10523262 CAB39L AU NM_030925 exon7 c.66153-75insTAGA Uncertain 13_50007393_C->T 13 50007393 50007393 C T snp 1087.77 1/1 78 39 0 39 1.0 intronic rs7998660 CAB39L AU NM_001287337 exon10 c.122504-60C>T 0.831669 0.9107 Uncertain 13_50008112_G->A 13 50008112 50008112 G A snp 2034.77 1/1 99 60 0 60 1.0 intronic rs3764091 CAB39L AU NM_001287337 exon11 c.123272-109G>A 0.819089 0.9107 Uncertain 13_50008301_A->G 13 50008301 50008301 A G snp 6838.77 1/1 99 244 0 244 1.0 UTR5 rs3764090 CAB39L AU 0.831669 0.9107 0.7338 0.8922 Uncertain 13_50035151_G->C 13 50035151 50035151 G C snp 688.77 1/1 51 20 0 20 1.0 intronic rs721457 SETDB2 AU NM_001160308 exon3 c.9203-81G>C 0.46905 0.4782 Uncertain 13_50035208_G->A 13 50035208 50035208 G A snp 1505.77 1/1 99 48 0 48 1.0 intronic rs2077848 SETDB2 AU NM_001160308 exon3 c.9203-24G>A 0.469249 0.4792 0.534087 0.5062 0.4981 Uncertain 13_50038080_G->A 13 50038080 50038080 G A snp 227.84 1/1 18 8 0 8 1.0 intronic rs12429813 SETDB2 AU NM_031915 exon5 c.12127-76G>A 0.394768 0.4385 0.474803 Uncertain 13_50050620_A->G 13 50050620 50050620 A G snp 1794.77 1/1 99 58 0 58 1.0 exonic rs7998427 SETDB2 AU nonsynonymous SNV NM_031915 exon7 c.A350G p.E117G 0.727236 0.8046 0.717947 0.7096 0.8000 0.5 T 0.000 P -0.931 T 0.013 T 0.019 T ID=CM067715;DIS=Lung cancer, susceptibility to, association with;TAG=DP;PUB=16741161 DP Pathogenic 13_50054308_G->A 13 50054308 50054308 G A snp 2975.77 1/1 99 103 0 103 1.0 intronic rs4142285 SETDB2 AU NM_001160308 exon6 c.28325-46G>A 0.820687 0.873 0.779871 0.7572 0.8600 Uncertain 13_50054346_G->T 13 50054346 50054346 G T snp 4351.77 1/1 99 157 0 157 1.0 intronic rs7996852 SETDB2 AU NM_001160308 exon6 c.28325-8G>T 0.820487 0.873 0.779948 0.7572 0.8601 Uncertain 13_50057097_G->A 13 50057097 50057097 G A snp 1667.77 1/1 99 65 0 65 1.0 exonic rs2057413 SETDB2 AU nonsynonymous SNV NM_031915 exon10 c.G1417A p.V473M 0.820687 0.873 0.779948 0.7572 0.8610 0.12 T 0.0 P -0.957 T 0.001 T 0.004 T Pathogenic 13_50057633_A->G 13 50057633 50057633 A G snp 957.77 1/1 69 43 0 43 1.0 exonic rs11619265 SETDB2 AU synonymous SNV NM_031915 exon11 c.A1452G p.Q484Q 0.471446 0.4762 0.536454 0.5293 0.5119 Uncertain 13_50062327_C->T 13 50062327 50062327 C T snp 99.28 1/1 9 3 0 3 1.0 intronic rs959421 SETDB2 AU NM_001160308 exon11 c.36396-98C>T 0.820687 0.873 Uncertain 13_50064839_G->A 13 50064839 50064839 G A snp 292.78 1/1 24 8 0 8 1.0 intronic rs9568223 SETDB2 AU NM_001160308 exon12 c.38928-118G>A 0.713259 0.8056 Uncertain 13_50080847_A->G 13 50080847 50080847 A G snp 3251.77 1/1 99 115 0 115 1.0 exonic rs2031532 PHF11 AD synonymous SNV NM_001040443 exon2 c.A171G p.L57L 0.782149 0.873 0.723051 0.7052 0.8630 Uncertain 13_50087142_T->C 13 50087142 50087142 T C snp 897.77 1/1 66 30 0 30 1.0 intronic rs2247119 PHF11 AD NM_001040443 exon3 c.17057-52T>C 0.222045 0.3621 ID=CS055612;DIS=Atopic dermatitis, childhood, association with;TAG=DP;PUB=15674390 DP Uncertain 13_50092128_ACTC->- 13 50092128 50092131 ACTC - indel 2125.73 1/1 90 30 0 30 1.0 intronic rs60679311 PHF11 AD NM_001040443 exon4 c.22016-25_22016-22delACTC 0.625599 0.8075 0.589100 0.6212 0.7996 Uncertain 13_50092246_C->T 13 50092246 50092246 C T snp 478.77 0/1 99 56 33 23 0.41 exonic rs139845867 PHF11 AD synonymous SNV NM_001040443 exon4 c.C417T p.D139D 0.00339457 0.0159 0.000154 0.0019 0.0258 1.000 N -1.038 T Likely benign 13_50095127_A->G 13 50095127 50095127 A G snp 833.77 1/1 60 33 1 32 0.97 intronic rs3765526 PHF11 AD NM_001040443 exon5 c.24939+51A>G 0.392372 0.4683 0.452868 0.4765 0.4949 Uncertain 13_50096127_C->G 13 50096127 50096127 C G snp 478.78 0/1 0 19 1 18 0.95 intronic rs2274277 PHF11 AD NM_001040443 exon6 c.26041-51C>G 0.225639 0.3621 0.243969 Uncertain 13_50098408_AAAAC->- 13 50098408 50098412 AAAAC - indel 510.74 1/1 27 15 0 15 1.0 intronic rs144805189 PHF11 AD NM_001040443 exon8 c.28215+56_28215+60delAAAAC 0.400759 0.4554 Uncertain 13_50100090_T->A 13 50100090 50100090 T A snp 512.77 1/1 39 15 0 15 1.0 intronic rs7322908 PHF11 AD NM_001040443 exon9 c.30385-432T>A 0.367212 0.4534 Uncertain 13_50100320_A->G 13 50100320 50100320 A G snp 307.78 1/1 24 10 0 10 1.0 intronic rs7321952 PHF11 AD NM_001040443 exon9 c.30385-202A>G 0.385383 0.4375 Uncertain 13_50100389_T->C 13 50100389 50100389 T C snp 1255.77 1/1 90 49 0 49 1.0 intronic rs7323493 PHF11 AD NM_001040443 exon9 c.30385-133T>C 0.401358 0.4554 Uncertain 13_50100628_TT->- 13 50100628 50100629 TT - indel 1787.73 1/1 99 39 0 39 1.0 intronic rs10546233 PHF11 AD NM_001040443 exon9 c.30457+34_30457+35delTT 0.401358 0.4554 0.452430 0.3624 0.3613 Uncertain 13_50100638_TATT->- 13 50100638 50100641 TATT - indel 2225.73 1/1 99 36 0 36 1.0 intronic rs10546234 PHF11 AD NM_001040443 exon9 c.30457+44_30457+47delTATT 0.38778 0.4554 0.363819 0.2507 0.2155 Uncertain 13_50100647_C->T 13 50100647 50100647 C T snp 910.77 1/1 66 32 0 32 1.0 intronic rs61960012 PHF11 AD NM_001040443 exon9 c.30457+53C>T 0.401358 0.4554 Uncertain 13_50100667_G->A 13 50100667 50100667 G A snp 739.77 1/1 54 24 0 24 1.0 intronic rs6561533 PHF11 AD NM_001040443 exon9 c.30457+73G>A 0.401358 0.4554 Uncertain 13_50102810_G->A 13 50102810 50102810 G A snp 5920.77 1/1 99 222 0 222 1.0 UTR3 rs1046295 PHF11 AD 0.419529 0.4524 0.475319 0.4863 0.4755 ID=CR055631;DIS=Atopic dermatitis, childhood, association with;TAG=DFP;PUB=15674390 DFP Uncertain 13_50102992_T->C 13 50102992 50102992 T C snp 496.77 1/1 39 13 0 13 1.0 UTR3 rs3033 PHF11 AD 0.420128 0.4554 Uncertain 13_50108252_T->C 13 50108252 50108252 T C snp 2472.77 1/1 99 87 1 86 0.99 UTR3 rs7317982 RCBTB1 AR 0.429513 0.4544 0.483469 0.4856 0.4780 Uncertain 13_50115669_C->T 13 50115669 50115669 C T snp 503.77 1/1 39 13 0 13 1.0 intronic rs1536195 RCBTB1 AR NM_018191 exon3 c.7554-142C>T 0.831669 0.8909 Uncertain 13_50121211_G->A 13 50121211 50121211 G A snp 418.77 1/1 33 13 0 13 1.0 intronic rs1570883 RCBTB1 AR NM_018191 exon4 c.10742+2212G>A 0.831669 0.8909 Uncertain 13_50121311_-->AA 13 50121311 50121311 - AA indel 1072.73 1/1 41 46 2 44 0.96 intronic rs3039280 RCBTB1 AR NM_018191 exon5 c.15336-2282insAA 0.614816 0.6875 0.4302 0.4655 Uncertain 13_50121511_A->G 13 50121511 50121511 A G snp 1691.77 1/1 99 51 0 51 1.0 intronic rs1570884 RCBTB1 AR NM_018191 exon5 c.15336-2082A>G 0.525759 0.6131 Uncertain 13_50123622_G->C 13 50123622 50123622 G C snp 2601.77 1/1 99 76 0 76 1.0 exonic rs3751384 RCBTB1 AR synonymous SNV NM_018191 exon9 c.C1017G p.P339P 0.47524 0.5149 0.554360 0.5852 0.5328 Uncertain 13_50126382_G->A 13 50126382 50126382 G A snp 1256.77 1/1 90 49 0 49 1.0 exonic rs2274278 RCBTB1 AR synonymous SNV NM_018191 exon7 c.C643T p.L215L 0.859026 0.8889 0.855144 0.8542 0.8936 Uncertain 13_50129615_A->G 13 50129615 50129615 A G snp 3049.77 1/1 99 113 0 113 1.0 intronic rs2274284 RCBTB1 AR NM_018191 exon8 c.21393-35A>G 0.857029 0.8889 0.852145 0.8442 0.8904 Uncertain 13_50134358_T->C 13 50134358 50134358 T C snp 751.77 1/1 57 24 0 24 1.0 intronic rs12146924 RCBTB1 AR NM_018191 exon9 c.25963+138T>C 0.47484 0.5188 Uncertain 13_50134372_G->C 13 50134372 50134372 G C snp 146.77 0/1 99 17 11 6 0.35 intronic rs117959005 RCBTB1 AR NM_018191 exon9 c.25963+152G>C 0.00539137 0.0268 Uncertain 13_50141345_G->A 13 50141345 50141345 G A snp 1853.77 1/1 99 71 0 71 1.0 exonic rs4942848 RCBTB1 AR nonsynonymous SNV NM_018191 exon3 c.C71T p.A24V 0.526158 0.6131 0.580271 0.6165 0.6354 1 T 1.000 P -0.927 T 1.0 D 0.999 D Pathogenic 13_50205025_T->C 13 50205025 50205025 T C snp 2462.77 0/1 99 246 132 114 0.46 exonic rs3803185 ARL11 AU nonsynonymous SNV NM_138450 exon2 c.T442C p.C148R 0.253794 0.1865 0.389248 0.3907 0.1820 0.25 T 0.000 P -1.040 T 0.001 T 0.003 T ID=CM062430;DIS=Cancer, association with;TAG=DP;PUB=16353159 DP Pathogenic 13_50244041_T->C 13 50244041 50244041 T C snp 1452.77 0/1 99 129 67 62 0.48 intronic rs9535292 EBPL AU NM_001278636 exon4 c.7944+59T>C 0.610623 0.7788 0.628121 Uncertain 13_50244150_C->A 13 50244150 50244150 C A snp 125.77 0/1 30 6 2 4 0.67 intronic rs9596166 EBPL AU NM_001278636 exon4 c.7944+168C>A 0.269169 0.6756 Uncertain 13_50260905_T->C 13 50260905 50260905 T C snp 1954.77 1/1 99 59 0 59 1.0 intronic rs6561552 EBPL AU NM_001278636 exon5 c.29351-4484T>C 0.853035 0.9315 Uncertain 13_50265661_G->T 13 50265661 50265661 G T snp 224.77 0/1 99 20 10 10 0.5 upstream rs3825408 EBPL AU 0.131989 0.1468 Uncertain 13_50283819_T->C 13 50283819 50283819 T C snp 1164.77 0/1 99 121 70 51 0.42 exonic rs17073322 KPNA3 AU synonymous SNV NM_002267 exon12 c.A921G p.A307A 0.185703 0.5982 0.041827 0.1107 0.5941 Uncertain 13_50294056_G->A 13 50294056 50294056 G A snp 176.9 1/1 15 6 0 6 1.0 intronic rs2273816 KPNA3 AU NM_002267 exon8 c.18020+101G>A 0.130192 0.1429 Uncertain 13_50296026_T->C 13 50296026 50296026 T C snp 2977.77 1/1 99 112 0 112 1.0 intronic rs9535310 KPNA3 AU NM_002267 exon9 c.20155-64T>C 0.875 0.999 Uncertain 13_50296115_C->T 13 50296115 50296115 C T snp 4269.77 1/1 99 167 0 167 1.0 exonic rs1127021 KPNA3 AU synonymous SNV NM_002267 exon9 c.G702A p.P234P 0.8752 0.999 0.836306 0.8780 0.9980 Uncertain 13_50306824_A->- 13 50306824 50306824 A - indel 1176.73 1/1 99 66 3 63 0.95 intronic rs11342957 KPNA3 AU NM_002267 exon13 c.30858+31delA 0.642372 0.878 0.6257 0.8798 Uncertain 13_50320961_T->C 13 50320961 50320961 T C snp 123.78 0/1 27 5 1 4 0.8 intronic rs17073356 KPNA3 AU NM_002267 exon16 c.45149-123T>C 0.169129 0.6002 Uncertain 13_50366680_-->GCG 13 50366680 50366680 - GCG indel 1136.73 0/1 99 78 22 56 0.72 UTR5 rs377544239 KPNA3 AU 0.1083 0.5143 Uncertain 13_50464734_A->C 13 50464734 50464734 A C snp 567.77 0/1 99 46 20 26 0.57 ncRNA_exonic rs61747168 CTAGE10P AU 0.0890575 0.0903 0.0790 0.0918 Uncertain 13_50464739_G->A 13 50464739 50464739 G A snp 669.77 0/1 99 52 23 29 0.56 ncRNA_exonic rs61747167 CTAGE10P AU 0.0890575 0.0903 0.0793 0.0928 Uncertain 13_50465577_A->G 13 50465577 50465577 A G snp 1972.77 0/1 99 185 98 87 0.47 ncRNA_exonic rs75540113 CTAGE10P AU 0.0858626 0.0903 0.0596 0.0709 Uncertain 13_50467124_T->C 13 50467124 50467124 T C snp 3114.77 1/1 99 107 0 107 1.0 ncRNA_exonic rs7316930 CTAGE10P AU 0.827875 1 Uncertain 13_50495555_T->C 13 50495555 50495555 T C snp 343.78 1/1 27 11 0 11 1.0 intronic rs9568357 SPRYD7 AU NM_001127482 exon2 c.6415-58T>C 0.327077 0.6766 0.2179 0.6141 Uncertain 13_50501980_G->A 13 50501980 50501980 G A snp 2553.77 1/1 99 86 0 86 1.0 intronic rs11617754 SPRYD7 AU NM_001127482 exon3 c.12856-74G>A 0.326677 0.6766 Uncertain 13_50570774_G->T 13 50570774 50570774 G T snp 137.03 1/1 12 6 0 6 1.0 ncRNA_intronic rs3116591 DLEU2 AU 0.328874 0.6756 Uncertain 13_51287408_C->G 13 51287408 51287408 C G snp 1225.77 0/1 99 94 46 48 0.51 intronic rs41284836 DLEU7 AU NM_198989 exon1 c.24+32C>G 0.214257 0.1964 0.246526 0.2775 0.1890 Uncertain 13_51397440_C->A 13 51397440 51397440 C A snp 1513.77 0/1 99 157 87 70 0.45 ncRNA_intronic rs9563002 DLEU7-AS1 AU 0.291334 0.2857 0.3705 0.3081 Uncertain 13_51417535_G->A 13 51417535 51417535 G A snp 149.77 0/1 99 14 8 6 0.43 exonic rs898861 DLEU7 AU nonsynonymous SNV NM_198989 exon1 c.C248T p.A83V 0.176717 0.2917 0.130090 0.2947 0.4333 0.84 T 0.0 P -0.990 T 0.198 T 0.061 T Pathogenic 13_51594493_C->T 13 51594493 51594493 C T snp 603.77 0/1 99 45 21 24 0.53 ncRNA_intronic rs7321578 GUCY1B2 AU 0.024361 0.0645 0.006351 0.0085 0.0387 Uncertain 13_51594741_T->G 13 51594741 51594741 T G snp 2015.77 0/1 99 126 47 79 0.63 ncRNA_exonic rs1328361 GUCY1B2 AU 0.668331 0.5635 0.682654 0.6322 0.5046 Uncertain 13_51603635_G->A 13 51603635 51603635 G A snp 111.77 0/1 99 8 4 4 0.5 ncRNA_intronic rs73501653 GUCY1B2 AU 0.0357428 0.0645 Uncertain 13_51603815_T->C 13 51603815 51603815 T C snp 2377.77 0/1 99 198 91 107 0.54 ncRNA_exonic rs115476480 GUCY1B2 AU 0.0257588 0.0645 0.007884 0.0071 0.0385 Uncertain 13_51796468_T->C 13 51796468 51796468 T C snp 56.74 1/1 6 2 0 2 1.0 upstream rs7320388 FAM124A AU 1 1 Uncertain 13_51929375_T->C 13 51929375 51929375 T C snp 1886.77 1/1 99 64 0 64 1.0 intronic rs9596506 SERPINE3 AU NM_001101320 exon5 c.14052+96T>C 0.453674 0.4742 Uncertain 13_51953840_C->T 13 51953840 51953840 C T snp 517.77 1/1 39 15 0 15 1.0 intronic rs3818360 INTS6 AU NM_001039937 exon8 c.13821+132C>T 0.440695 0.498 Uncertain 13_51956122_T->C 13 51956122 51956122 T C snp 603.77 1/1 45 17 0 17 1.0 intronic rs9526753 INTS6 AU NM_001039937 exon9 c.16277-42T>C 0.749401 0.7173 0.699938 0.6970 0.7693 Uncertain 13_52249138_G->A 13 52249138 52249138 G A snp 488.77 0/1 99 39 20 19 0.49 intronic rs116950358 WDFY2 AU NM_052950 exon3 c.90482-167G>A 0.033746 0.1597 Uncertain 13_52293532_T->C 13 52293532 52293532 T C snp 258.8 1/1 21 8 0 8 1.0 intronic rs912097 WDFY2 AU NM_052950 exon5 c.134661+48T>C 0.940495 1 0.943334 0.9820 1 Uncertain 13_52351037_C->T 13 52351037 52351037 C T snp 336.77 0/1 99 20 9 11 0.55 intronic rs2296026 DHRS12 AU NM_024705 exon4 c.7936-158C>T 0.283546 0.3006 Uncertain 13_52373814_G->C 13 52373814 52373814 G C snp 2100.77 1/1 99 79 0 79 1.0 intronic rs9535761 DHRS12 AU NM_024705 exon7 c.30544+11G>C 0.781749 0.6726 0.850300 0.8313 0.6488 Uncertain 13_52391341_C->T 13 52391341 52391341 C T snp 2405.77 1/1 99 79 0 79 1.0 ncRNA_intronic rs975504 LINC00282 AU 0.626597 0.4712 Uncertain 13_52425587_-->T 13 52425587 52425587 - T indel 1090.73 0/1 99 68 11 57 0.84 intergenic rs36141261 LINC00282 AU 0.850439 0.9196 Uncertain 13_52482361_C->T 13 52482361 52482361 C T snp 139.03 1/1 12 4 0 4 1.0 intergenic rs6561653 CCDC70 AU 0.964856 0.998 Uncertain 13_52482400_AG->- 13 52482400 52482401 AG - indel 852.73 1/1 51 17 0 17 1.0 intergenic rs148364463 CCDC70 AU 0.39357 0.4306 Uncertain 13_52482446_T->G 13 52482446 52482446 T G snp 184.77 0/1 99 49 28 21 0.43 intergenic CCDC70 AU Uncertain 13_52482452_T->G 13 52482452 52482452 T G snp 49.77 0/1 78 52 29 23 0.44 intergenic rs12560974 CCDC70 AU Uncertain 13_52482661_T->C 13 52482661 52482661 T C snp 267.78 1/1 27 11 0 11 1.0 intergenic rs7333093 CCDC70 AU 0.959265 0.9226 Uncertain 13_52482675_A->G 13 52482675 52482675 A G snp 163.84 1/1 18 7 0 7 1.0 intergenic rs4943038 CCDC70 AU 0.969649 1 Uncertain 13_52511362_C->G 13 52511362 52511362 C G snp 1171.77 0/1 99 86 42 44 0.51 intronic rs9535795 ATP7B AR NM_000053 exon3 c.2520-49C>G 0.531749 0.4008 0.572808 0.5607 0.3916 Uncertain 13_52511606_G->A 13 52511606 52511606 G A snp 2073.77 0/1 99 181 98 83 0.46 splicing rs2282057 ATP7B AR NM_000053 exon4 c.2720-5G>A 0.501797 0.4018 0.549086 0.5374 0.3949 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=Wilson's_disease|not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter|criteria_provided\x2c_multiple_submitters\x2c_no_conflicts;CLNACC=RCV000029376.1|RCV000078054.4;CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT|MedGen;CLNDSDBID=NBK1512:C0019202:277900:ORPHA905:88518009|CN169374 Pathogenic 13_52515354_A->G 13 52515354 52515354 A G snp 1000.77 0/1 99 111 69 42 0.38 exonic rs1801249 ATP7B AR nonsynonymous SNV NM_000053 exon16 c.T3419C p.V1140A 0.540535 0.4008 0.577558 0.5653 0.3938 0.91 T 0.0 P -0.954 T 0.001 T 0.038 T CLINSIG=probable-non-pathogenic;CLNDBN=Wilson's_disease;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000029369.1;CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT;CLNDSDBID=NBK1512:C0019202:277900:ORPHA905:88518009 ID=CM044579;DIS=Wilson disease;TAG=DP;PUB=14966923 DP Pathogenic 13_52520704_C->A 13 52520704 52520704 C A snp 493.77 0/1 99 30 12 18 0.6 intronic rs2296246 ATP7B AR NM_000053 exon9 c.11723+90C>A 0.307109 0.3512 Uncertain 13_52523808_C->T 13 52523808 52523808 C T snp 702.77 0/1 99 85 52 33 0.39 exonic rs732774 ATP7B AR nonsynonymous SNV NM_000053 exon12 c.G2855A p.R952K 0.53095 0.4018 0.571655 0.5627 0.3935 0.99 T 1.0 P -0.965 T 0.04 T 0.03 T CLINSIG=non-pathogenic;CLNDBN=Wilson's_disease;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000029357.1;CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT;CLNDSDBID=NBK1512:C0019202:277900:ORPHA905:88518009 ID=CM127927;DIS=Alzheimer disease, association with;TAG=DP;PUB=22356903 DP Pathogenic 13_52524488_T->C 13 52524488 52524488 T C snp 853.77 0/1 99 78 46 32 0.41 exonic rs1061472 ATP7B AR nonsynonymous SNV NM_000053 exon10 c.A2495G p.K832R 0.502396 0.4008 0.552168 0.5384 0.3936 0.09 T 1.0 P -0.931 T 0.954 T 0.789 D CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=Wilson's_disease|not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter|criteria_provided\x2c_multiple_submitters\x2c_no_conflicts;CLNACC=RCV000029356.1|RCV000078043.4;CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT|MedGen;CLNDSDBID=NBK1512:C0019202:277900:ORPHA905:88518009|CN169374 ID=CM116966;DIS=Alzheimer disease, association with;TAG=DP;PUB=21760992 DP Pathogenic 13_52524560_C->T 13 52524560 52524560 C T snp 216.77 0/1 99 16 9 7 0.44 intronic rs9526811 ATP7B AR NM_000053 exon12 c.15644+25C>T 0.306909 0.3512 0.358001 0.3996 0.3359 Uncertain 13_52536266_T->C 13 52536266 52536266 T C snp 41.77 0/1 70 4 2 2 0.5 intronic rs9316562 ATP7B AR NM_000053 exon16 c.27158+217T>C 0.532548 0.4048 Uncertain 13_52542796_T->G 13 52542796 52542796 T G snp 295.77 0/1 99 18 9 9 0.5 intronic rs2147363 ATP7B AR NM_000053 exon18 c.33852+53T>G 0.611821 0.4841 ID=CR137942;DIS=Alzheimer disease, association with;TAG=DP;PUB=23948886 DP Uncertain 13_52544805_C->G 13 52544805 52544805 C G snp 2794.77 0/1 99 231 105 126 0.55 exonic rs1801244 ATP7B AR nonsynonymous SNV NM_000053 exon3 c.G1366C p.V456L 0.376997 0.4841 0.405218 0.4346 0.4835 0.71 T 0.0 P -1.006 T 0.042 T 0.039 T CLINSIG=probable-non-pathogenic|non-pathogenic;CLNDBN=Wilson's_disease|not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter|criteria_provided\x2c_multiple_submitters\x2c_no_conflicts;CLNACC=RCV000029351.1|RCV000078039.4;CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT|MedGen;CLNDSDBID=NBK1512:C0019202:277900:ORPHA905:88518009|CN169374 ID=CM1212621;DIS=Alzheimer disease, association with;TAG=DFP;PUB=23830383 DFP Pathogenic 13_52544978_T->G 13 52544978 52544978 T G snp 216.77 0/1 99 17 9 8 0.47 intronic rs3742288 ATP7B AR NM_000053 exon19 c.35994+93T>G 0.377596 0.4841 Uncertain 13_52548140_A->C 13 52548140 52548140 A C snp 1560.77 0/1 99 140 72 68 0.49 exonic rs1801243 ATP7B AR nonsynonymous SNV NM_000053 exon2 c.T1216G p.S406A 0.376198 0.5367 0.401217 0.4388 0.5337 0.78 T 0.0 P -0.999 T 0.113 T 0.078 T CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=Wilson's_disease|not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter|criteria_provided\x2c_multiple_submitters\x2c_no_conflicts;CLNACC=RCV000029350.1|RCV000078038.4;CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT|MedGen;CLNDSDBID=NBK1512:C0019202:277900:ORPHA905:88518009|CN169374 ID=CM129458;DIS=Wilson disease;TAG=DM?;PUB=NO ID DM? Pathogenic 13_52585548_G->T 13 52585548 52585548 G T snp 1485.77 0/1 99 135 73 62 0.46 UTR5 rs2277448 ATP7B AR 0.516773 0.5952 0.595050 ID=CR129463;DIS=Wilson disease;TAG=DM?;PUB=NO ID DM? Uncertain 13_52585591_-->CGGCG 13 52585591 52585591 - CGGCG indel 1826.73 0/1 99 79 35 44 0.56 UTR5 rs148013251 ATP7B AR 0.370407 0.5327 CLINSIG=unknown;CLNDBN=Wilson's_disease;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000029348.1;CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT;CLNDSDBID=NBK1512:C0019202:277900:ORPHA905:88518009 Uncertain 13_52602919_A->C 13 52602919 52602919 A C snp 1088.77 0/1 99 66 23 43 0.65 UTR5;UTR3 rs3825528 UTP14C;ALG11 UN 0.368411 0.5327 0.403645 0.4490 0.5150 Uncertain 13_52603194_G->T 13 52603194 52603194 G T snp 2293.77 0/1 99 176 88 88 0.5 exonic rs3742289 UTP14C AU nonsynonymous SNV NM_021645 exon2 c.G254T p.G85V 0.58127 0.5952 0.632862 0.6478 0.5918 0.4 T 0.991 P -1.048 T 0.0 T 0.0 T Pathogenic 13_52603775_C->T 13 52603775 52603775 C T snp 2444.77 0/1 99 225 117 108 0.48 exonic rs3742291 UTP14C AU synonymous SNV NM_021645 exon2 c.C835T p.L279L 0.510583 0.5952 0.564432 0.6288 0.5911 Uncertain 13_52649975_A->- 13 52649975 52649975 A - indel 50.73 0/1 88 24 13 11 0.46 intronic rs756391500 NEK5 AU NM_199289 exon3 c.10420+13delA 0.3885 0.3939 Uncertain 13_52657287_A->G 13 52657287 52657287 A G snp 428.77 0/1 99 25 10 15 0.6 intronic rs9563091 NEK5 AU NM_199289 exon6 c.17853-108A>G 0.375799 0.5337 Uncertain 13_52657689_T->G 13 52657689 52657689 T G snp 195.82 0/1 19 7 1 6 0.86 intronic rs12585654 NEK5 AU NM_199289 exon6 c.17946+201T>G 0.369209 0.5288 Uncertain 13_52663491_A->G 13 52663491 52663491 A G snp 960.77 0/1 99 96 51 45 0.47 intronic rs9535861 NEK5 AU NM_199289 exon9 c.23907+42A>G 0.506789 0.6121 0.553308 0.6086 0.6132 Uncertain 13_52684802_AC->- 13 52684802 52684803 AC - indel 872.73 0/1 99 69 26 43 0.62 intronic rs539225066 NEK5 AU NM_199289 exon17 c.45171+89_45171+90delAC 0.395168 0.5337 Uncertain 13_52701490_-->CTT 13 52701490 52701490 - CTT indel 2243.73 0/1 99 91 48 43 0.47 intronic rs3076657 NEK5 AU NM_199289 exon20 c.61959-11insCTT 0.63139 0.5972 0.673083 0.6666 0.5928 Uncertain 13_52701637_T->G 13 52701637 52701637 T G snp 2510.77 0/1 99 227 118 109 0.48 UTR5 rs1886544 NEK5 AU 0.523163 0.5982 0.564201 0.6217 0.5943 Uncertain 13_52701782_T->C 13 52701782 52701782 T C snp 360.77 0/1 99 19 8 11 0.58 UTR5 rs1886543 NEK5 AU 0.517772 0.5972 Uncertain 13_52707240_C->G 13 52707240 52707240 C G snp 2130.77 0/1 99 219 116 103 0.47 UTR3 rs3368 NEK3 AU 0.390176 0.5347 0.447235 0.5335 0.5409 Uncertain 13_52707751_-->CACACA 13 52707751 52707751 - CACACA indel 471.73 0/1 99 18 11 7 0.39 intronic rs3831081 NEK3 AU NM_002498 exon2 c.547-73insCACACA Uncertain 13_52709938_A->C 13 52709938 52709938 A C snp 2307.77 0/1 99 222 109 113 0.51 exonic rs2296351 NEK3 AU synonymous SNV NM_001146099 exon13 c.T1185G p.P395P 0.200879 0.1756 0.280391 0.3026 0.2068 Uncertain 13_52710044_T->C 13 52710044 52710044 T C snp 899.77 0/1 99 76 43 33 0.43 intronic rs2296350 NEK3 AU NM_002498 exon3 c.2722+45T>C 0.419129 0.5347 0.486139 0.5093 0.5162 Uncertain 13_52710058_T->G 13 52710058 52710058 T G snp 595.77 0/1 99 51 27 24 0.47 intronic rs2296349 NEK3 AU NM_002498 exon3 c.2722+59T>G 0.391973 0.5347 Uncertain 13_52710136_T->G 13 52710136 52710136 T G snp 108.77 0/1 99 7 3 4 0.57 intronic rs2296348 NEK3 AU NM_002498 exon4 c.2974-115T>G 0.419129 0.5347 Uncertain 13_52710561_T->A 13 52710561 52710561 T A snp 86.77 0/1 30 4 1 3 0.75 intronic rs9535882 NEK3 AU NM_002498 exon4 c.3118+166T>A 0.369209 0.503 Uncertain 13_52717950_C->T 13 52717950 52717950 C T snp 111.77 0/1 99 10 6 4 0.4 intronic rs3783242 NEK3 AU NM_002498 exon7 c.10773-100C>T 0.515575 0.5982 Uncertain 13_52718050_-->T 13 52718050 52718050 - T indel 552.73 0/1 99 63 37 26 0.41 splicing rs3837575 NEK3 AU NM_002498 exon7 c.10773insT 0.488019 0.5903 0.528624 0.5390 0.5982 Pathogenic 13_52952929_A->- 13 52952929 52952929 A - indel 213.73 0/1 85 16 4 12 0.75 splicing rs113543720 THSD1 AU NM_199263 exon1 c.1379+5delA 0.544728 0.6389 0.6406 0.6785 Pathogenic 13_52971893_G->A 13 52971893 52971893 G A snp 1943.77 0/1 99 135 61 74 0.55 exonic rs3803264 THSD1 AU synonymous SNV NM_018676 exon3 c.C495T p.I165I 0.58766 0.6458 0.601722 0.6380 0.6654 Uncertain 13_52989863_C->T 13 52989863 52989863 C T snp 288.77 0/1 99 21 11 10 0.48 UTR3 rs1056335 VPS36 AU 0.568091 0.6349 Uncertain 13_53007968_A->G 13 53007968 53007968 A G snp 128.77 0/1 99 28 21 7 0.25 intronic rs12430144 VPS36 AU NM_016075 exon9 c.17919+85A>G 0.205671 0.2966 Uncertain 13_53009048_C->T 13 53009048 53009048 C T snp 447.77 0/1 99 46 25 21 0.46 intronic rs11148252 VPS36 AU NM_016075 exon10 c.19053+31C>T 0.458267 0.629 0.451330 0.5388 0.6495 Uncertain 13_53013048_T->A 13 53013048 53013048 T A snp 52.74 1/1 6 2 0 2 1.0 intronic rs2185546 VPS36 AU NM_016075 exon12 c.23268-184T>A 0.0217652 0.0992 Uncertain 13_53030565_G->A 13 53030565 53030565 G A snp 150.77 0/1 99 10 4 6 0.6 intronic rs9536079 CKAP2 AU NM_001098525 exon2 c.966-92G>A 0.402157 0.5744 Uncertain 13_53035783_T->C 13 53035783 53035783 T C snp 5337.77 1/1 99 182 0 182 1.0 exonic rs7337054 CKAP2 AU synonymous SNV NM_001098525 exon4 c.T825C p.T275T 0.997404 1 0.997078 0.9992 1 Uncertain 13_53035925_A->G 13 53035925 53035925 A G snp 4373.77 1/1 99 162 0 162 1.0 exonic rs7335867 CKAP2 AU nonsynonymous SNV NM_001098525 exon4 c.A967G p.I323V 0.999601 1 0.999692 0.9998 1 0.0 P -1.002 T 0.0 T 0.001 T Pathogenic 13_53036398_A->G 13 53036398 53036398 A G snp 77.77 0/1 99 8 4 4 0.5 intronic rs3803262 CKAP2 AU NM_001098525 exon5 c.6806-99A>G 0.537939 0.6389 Uncertain 13_53227301_C->T 13 53227301 53227301 C T snp 192.77 0/1 99 11 5 6 0.55 intronic rs9536219 SUGT1 AU NM_006704 exon2 c.183+63C>T 0.282348 0.2044 0.334428 Uncertain 13_53232489_A->G 13 53232489 53232489 A G snp 1018.77 1/1 75 31 0 31 1.0 intronic rs4542538 SUGT1 AU NM_006704 exon4 c.5478-44A>G 0.96266 0.9921 0.951715 0.9518 0.9913 Uncertain 13_53240884_G->C 13 53240884 53240884 G C snp 357.77 1/1 30 10 0 10 1.0 intronic rs9316580 SUGT1 AU NM_006704 exon10 c.13891-62G>C 0.99401 1 Uncertain 13_53254082_T->C 13 53254082 53254082 T C snp 914.77 1/1 66 32 0 32 1.0 intronic rs4539485 SUGT1 AU NM_006704 exon12 c.27053-26T>C 0.96266 0.9921 0.951839 0.9521 0.9917 Uncertain 13_53254296_A->G 13 53254296 53254296 A G snp 303.78 1/1 24 11 0 11 1.0 splicing rs7986540 SUGT1 AU NM_006704 exon12 c.27235+6A>G 0.96266 0.9921 0.951868 0.9517 0.9914 Pathogenic 13_53287023_G->C 13 53287023 53287023 G C snp 580.77 0/1 99 36 10 26 0.72 intronic rs2147692 LECT1 AU NM_007015 exon3 c.9275+19G>C 0.262979 0.2073 0.323466 0.3606 0.2674 Uncertain 13_53384441_T->G 13 53384441 53384441 T G snp 983.77 0/1 99 65 31 34 0.52 downstream rs139380992 MIR759 AU 0.000599042 0.003 Uncertain 13_53419139_T->G 13 53419139 53419139 T G snp 1018.77 1/1 75 33 0 33 1.0 intronic rs2236363 PCDH8 AU NM_002590 exon1 c.374+71T>G 0.283546 0.5119 Uncertain 13_53421432_C->A 13 53421432 53421432 C A snp 4394.77 1/1 99 154 1 153 0.99 exonic rs3742300 PCDH8 AU synonymous SNV NM_002590 exon1 c.G1140T p.G380G 0.284545 0.5119 0.149554 0.4249 0.6439 Uncertain 13_53422553_A->G 13 53422553 53422553 A G snp 7346.77 1/1 99 250 0 250 1.0 exonic rs3742301 PCDH8 AU nonsynonymous SNV NM_002590 exon1 c.T19C p.W7R 0.284545 0.5119 0.192355 0.2444 0.5516 0.34 T 0.000 P -0.921 T 0.0 T 0.0 T Pathogenic 13_53608632_C->T 13 53608632 53608632 C T snp 377.77 0/1 99 32 16 16 0.5 exonic rs2298231 OLFM4 AU synonymous SNV NM_006418 exon2 c.C354T p.S118S 0.565296 0.7242 0.470475 0.5518 0.7363 Uncertain 13_54615316_A->- 13 54615316 54615316 A - indel 1858.73 1/1 99 45 0 45 1.0 intergenic rs144930433 LINC00558 AU 0.189696 0.1161 0.1802 0.125 Uncertain 13_54615572_TAGAT->- 13 54615572 54615576 TAGAT - indel 5852.73 1/1 99 87 0 87 1.0 intergenic rs144567553 LINC00558 AU 0.172724 0.1161 Uncertain 13_55748673_T->C 13 55748673 55748673 T C snp 197.77 0/1 99 14 6 8 0.57 ncRNA_exonic rs1572687 MIR5007 AU 0.736821 0.749 0.5 . Uncertain 13_59103355_A->G 13 59103355 59103355 A G snp 2355.77 1/1 99 81 0 81 1.0 intergenic rs4886083 LOC101926897 AU 0.228435 0.4702 Uncertain 13_60240961_C->T 13 60240961 60240961 C T snp 1592.77 0/1 99 146 77 69 0.47 exonic rs9538494 DIAPH3 AD synonymous SNV NM_001042517 exon28 c.G3339A p.L1113L 0.146965 0.1071 0.202982 0.2041 0.0813 Uncertain 13_60385060_-->TTAC 13 60385060 60385060 - TTAC indel 2274.73 1/1 96 32 0 32 1.0 splicing rs10665848 DIAPH3 AD NM_001258366 exon4 c.144340+3insTTAC 0.929113 0.9851 0.9884 0.9998 Pathogenic 13_60453495_A->G 13 60453495 60453495 A G snp 2546.77 0/1 99 204 98 106 0.52 exonic rs74734305 DIAPH3 AD synonymous SNV NM_001042517 exon21 c.T2475C p.T825T 0.0111821 0.0526 0.000166 0.0053 0.0648 Uncertain 13_60485710_G->A 13 60485710 60485710 G A snp 99.77 0/1 99 13 9 4 0.31 intronic rs73196165 DIAPH3 AD NM_001258366 exon9 c.245151-158G>A 0.10603 0.0933 Uncertain 13_60590299_C->T 13 60590299 60590299 C T snp 2056.77 1/1 99 74 0 74 1.0 ncRNA_intronic rs2762134 DIAPH3-AS1 AU 0.71845 0.5615 0.769806 0.7292 0.6207 Uncertain 13_60617060_A->G 13 60617060 60617060 A G snp 31.77 0/1 60 8 6 2 0.25 ncRNA_intronic rs2800294 DIAPH3-AS1 AU 0.592053 0.2361 Uncertain 13_60667617_A->G 13 60667617 60667617 A G snp 44.77 0/1 31 3 1 2 0.67 intronic rs41293428 DIAPH3 AD NM_001258366 exon25 c.427044-144A>G 0.0341454 0.0615 Uncertain 13_60686017_G->C 13 60686017 60686017 G C snp 99.28 1/1 9 3 0 3 1.0 intronic rs1225834 DIAPH3 AD NM_001258366 exon26 c.445426-126G>C 0.202276 0.1131 Uncertain 13_60849792_A->G 13 60849792 60849792 A G snp 296.78 1/1 24 8 0 8 1.0 intergenic rs141131232 LINC00434 AU 0.923522 1 Uncertain 13_61041312_G->A 13 61041312 61041312 G A snp 1129.77 0/1 99 123 74 49 0.4 intronic rs9538715 TDRD3 AU NM_001146070 exon5 c.69873-59G>A 0.142772 0.1855 Uncertain 13_61057778_C->T 13 61057778 61057778 C T snp 119.78 0/1 27 5 1 4 0.8 intronic rs7322888 TDRD3 AU NM_001146070 exon6 c.86410-130C>T 0.404952 0.248 Uncertain 13_61057808_A->C 13 61057808 61057808 A C snp 298.74 0/1 6 13 1 12 0.92 intronic rs9528147 TDRD3 AU NM_001146070 exon6 c.86410-100A>C 0.14357 0.1875 Uncertain 13_61058724_G->A 13 61058724 61058724 G A snp 46.77 0/1 31 3 1 2 0.67 intronic rs7329723 TDRD3 AU NM_001146070 exon6 c.86482+744G>A 0.416733 0.251 Uncertain 13_61986918_C->A 13 61986918 61986918 C A snp 7659.77 1/1 99 249 0 249 1.0 exonic rs3812872 PCDH20 AU synonymous SNV NM_022843 exon2 c.G1314T p.V438V 0.802316 0.9226 0.717823 0.7490 0.9280 Uncertain 13_61988107_T->G 13 61988107 61988107 T G snp 5448.77 1/1 99 195 0 195 1.0 intronic rs4281600 PCDH20 AU NM_022843 exon1 c.2724+8T>G 0.992013 1 0.994329 0.9980 1 Uncertain 13_61988153_C->G 13 61988153 61988153 C G snp 1017.77 0/1 99 92 47 45 0.49 intronic rs3812873 PCDH20 AU NM_022843 exon1 c.2724+54C>G 0.297724 0.4474 Uncertain 13_66540575_C->T 13 66540575 66540575 C T snp 390.77 0/1 99 69 47 22 0.32 upstream rs3843944 MIR548X2 AU 0.190695 0.2133 0 . Uncertain 13_67800935_G->A 13 67800935 67800935 G A snp 5892.77 1/1 99 205 0 205 1.0 exonic rs9571740 PCDH9 AU synonymous SNV NM_020403 exon2 c.C1638T p.D546D 0.426717 0.5536 0.450177 0.4873 0.5840 Uncertain 13_67802339_A->T 13 67802339 67802339 A T snp 4929.77 1/1 99 175 0 175 1.0 exonic rs8000556 PCDH9 AU synonymous SNV NM_020403 exon2 c.T234A p.V78V 0.69988 0.6806 0.718668 0.7546 0.7060 Uncertain 13_70293328_GTGTGTGTGTGTGTGAGA->- 13 70293328 70293345 GTGTGTGTGTGTGTGAGA - indel 784.8 1/1 18 6 0 6 1.0 intronic rs67679934 KLHL1 AU NM_020866 exon3 c.17667-172_17667-155delGTGTGTGTGTGTGTGAGA Uncertain 13_70535355_T->A 13 70535355 70535355 T A snp 724.77 1/1 54 21 0 21 1.0 intronic rs9592668 KLHL1 AU NM_020866 exon9 c.259606-84T>A 0.838458 0.9762 Uncertain 13_70549637_TTAAAAAAAT->- 13 70549637 70549646 TTAAAAAAAT - indel 3085.73 0/1 99 50 20 30 0.6 intronic rs71693665 KLHL1 AU NM_020866 exon10 c.273918-114_273918-105delTTAAAAAAAT Uncertain 13_70681598_T->C 13 70681598 70681598 T C snp 5490.77 1/1 99 197 3 194 0.98 exonic rs3751427 KLHL1 AU synonymous SNV NM_020866 exon1 c.A234G p.S78S 0.169329 0.2897 0.108873 0.1126 0.3305 Uncertain 13_72038653_C->A 13 72038653 72038653 C A snp 872.77 1/1 63 30 0 30 1.0 intronic rs915052 DACH1 AU NM_004392 exon2 c.34486-10619C>A 0.896366 0.9742 Uncertain 13_73301407_G->T 13 73301407 73301407 G T snp 126.03 1/1 12 4 0 4 1.0 intronic rs1465898 MZT1 AU NM_001071775 exon3 c.17202-254G>T 0.868211 0.9762 Uncertain 13_73301655_A->C 13 73301655 73301655 A C snp 6215.77 1/1 99 237 0 237 1.0 intronic rs1465897 MZT1 AU NM_001071775 exon3 c.17202-6A>C 0.869609 0.9762 0.874423 0.9526 0.9752 Uncertain 13_73301728_T->C 13 73301728 73301728 T C snp 3480.77 1/1 99 131 0 131 1.0 exonic rs1465896 MZT1 AU nonsynonymous SNV NM_001071775 exon1 c.A13G p.S5G 0.869609 0.9762 0.867793 0.9538 0.9728 0.38 T 0.000 P -0.981 T 0.0 T 0.0 T Pathogenic 13_73301804_A->G 13 73301804 73301804 A G snp 1191.77 1/1 87 33 0 33 1.0 UTR5 rs1465895 MZT1 AU 0.225839 0.4573 Uncertain 13_73302158_T->- 13 73302158 73302158 T - indel 9804.73 1/1 99 247 0 247 1.0 UTR5 rs11350390 BORA AU 0.868411 0.9762 0.9495 0.9693 Uncertain 13_73302481_G->A 13 73302481 73302481 G A snp 854.77 1/1 63 35 0 35 1.0 intronic rs4885034 BORA AU NM_001286746 exon1 c.210+83G>A 0.864816 0.9762 Uncertain 13_73309278_T->G 13 73309278 73309278 T G snp 3888.77 1/1 99 156 1 155 0.99 intronic rs58536774 BORA AU NM_001286746 exon4 c.6955+135T>G 0.159545 0.2431 Uncertain 13_73309347_C->T 13 73309347 73309347 C T snp 1998.77 1/1 99 61 0 61 1.0 intronic rs9543106 BORA AU NM_001286746 exon4 c.6955+204C>T 0.86901 0.9762 Uncertain 13_73317585_C->T 13 73317585 73317585 C T snp 580.77 1/1 45 18 0 18 1.0 intronic rs9600019 BORA AU NM_001286746 exon6 c.15486-89C>T 0.334465 0.4871 Uncertain 13_73329358_G->A 13 73329358 73329358 G A snp 5946.77 1/1 99 213 0 213 1.0 UTR3 rs10887 BORA AU 0.769369 0.747 0.745370 0.7361 0.7539 Uncertain 13_73335383_G->T 13 73335383 73335383 G T snp 759.77 1/1 57 22 0 22 1.0 intronic rs9573028 DIS3 AU NM_014953 exon3 c.1568-117G>T 0.326078 0.4504 Uncertain 13_73343039_C->T 13 73343039 73343039 C T snp 1436.77 1/1 99 58 0 58 1.0 exonic rs2196979 DIS3 AU synonymous SNV NM_001128226 exon14 c.G1677A p.T559T 0.770168 0.748 0.747615 0.7373 0.7538 Uncertain 13_73350079_T->C 13 73350079 73350079 T C snp 3288.77 1/1 99 123 0 123 1.0 exonic rs4883918 DIS3 AU nonsynonymous SNV NM_001128226 exon5 c.A716G p.N239S 0.327077 0.4534 0.234615 0.3363 0.4868 0.75 T 0.0 P -0.938 T 0.0 T 0.0 T Pathogenic 13_73366704_A->T 13 73366704 73366704 A T snp 603.77 1/1 45 21 0 21 1.0 intronic rs11148921 PIBF1 AU NM_006346 exon3 c.9078+19A>T 0.29972 0.374 0.206419 0.4044 0.4824 Uncertain 13_73402075_C->T 13 73402075 73402075 C T snp 2740.77 1/1 99 100 0 100 1.0 intronic rs9564921 PIBF1 AU NM_006346 exon8 c.44445+23C>T 0.326877 0.4325 0.242042 0.3446 0.4625 Uncertain 13_73409622_C->G 13 73409622 73409622 C G snp 50.74 1/1 6 2 0 2 1.0 intronic rs2038846 PIBF1 AU NM_006346 exon9 c.51899+116C>G 0.317292 0.4335 Uncertain 13_73505177_A->G 13 73505177 73505177 A G snp 179.9 1/1 15 7 0 7 1.0 intronic rs9564931 PIBF1 AU NM_006346 exon14 c.147695-125A>G 0.211462 0.2649 Uncertain 13_74289799_A->T 13 74289799 74289799 A T snp 508.77 0/1 99 32 16 16 0.5 intronic rs6562780 KLF12 AU NM_007249 exon2 c.20036+137A>T 0.750599 0.7183 Uncertain 13_74988714_C->T 13 74988714 74988714 C T snp 645.77 0/1 99 46 22 24 0.52 intergenic rs1931954 KLF12 AU 0.4377 0.6885 0.5369 0.6758 0 D 0.0 P -0.966 T Uncertain 13_74993000_G->A 13 74993000 74993000 G A snp 2413.77 0/1 99 193 90 103 0.53 upstream rs953905 LINC00381 AU 0.189297 0.1984 Uncertain 13_75860804_C->A 13 75860804 75860804 C A snp 494.77 1/1 39 15 0 15 1.0 UTR3 rs534538 TBC1D4 AU 0.973642 1 Uncertain 13_75880667_G->A 13 75880667 75880667 G A snp 1397.77 1/1 99 49 0 49 1.0 intronic rs2297209 TBC1D4 AU NM_014832 exon7 c.19680+60G>A 0.488219 0.5952 Uncertain 13_75884216_C->T 13 75884216 75884216 C T snp 2321.77 1/1 99 85 1 84 0.99 exonic rs1062087 TBC1D4 AU nonsynonymous SNV NM_014832 exon14 c.G2455A p.V819I 0.711861 0.7956 0.765022 0.8256 0.8117 0.34 T 0.0 P -1.027 T 0.0 T 0.001 T CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000118589.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 13_75887127_T->C 13 75887127 75887127 T C snp 348.78 1/1 27 12 0 12 1.0 intronic rs2274757 TBC1D4 AU NM_014832 exon9 c.26107+93T>C 0.402356 0.6488 Uncertain 13_75894015_T->C 13 75894015 75894015 T C snp 1219.77 1/1 87 44 0 44 1.0 intronic rs2274758 TBC1D4 AU NM_014832 exon10 c.33222-134T>C 0.450479 0.6448 Uncertain 13_75898596_C->A 13 75898596 75898596 C A snp 480.77 1/1 36 14 0 14 1.0 intronic rs2297210 TBC1D4 AU NM_014832 exon11 c.37610+59C>A 0.584265 0.7222 Uncertain 13_75901749_G->T 13 75901749 75901749 G T snp 349.78 1/1 27 9 0 9 1.0 intronic rs2297206 TBC1D4 AU NM_014832 exon13 c.40960-138G>T 0.714856 0.8056 Uncertain 13_75910909_C->A 13 75910909 75910909 C A snp 220.77 0/1 99 16 8 8 0.5 intronic rs693134 TBC1D4 AU NM_014832 exon14 c.50129-147C>A 0.492212 0.6855 Uncertain 13_75910950_T->G 13 75910950 75910950 T G snp 625.77 0/1 99 49 21 28 0.57 intronic rs9573525 TBC1D4 AU NM_014832 exon14 c.50129-106T>G 0.402955 0.6855 Uncertain 13_75915215_T->C 13 75915215 75915215 T C snp 1709.77 0/1 99 160 86 74 0.46 intronic rs80163254 TBC1D4 AU NM_014832 exon15 c.54333-45T>C 0.585463 0.8036 0.5508 0.7870 Uncertain 13_75915216_A->C 13 75915216 75915216 A C snp 1713.77 0/1 99 160 86 74 0.46 intronic rs80143047 TBC1D4 AU NM_014832 exon15 c.54333-44A>C 0.585463 0.8036 0.5508 0.7871 Uncertain 13_75915217_T->A 13 75915217 75915217 T A snp 1724.77 0/1 99 160 86 74 0.46 intronic rs76964739 TBC1D4 AU NM_014832 exon15 c.54333-43T>A 0.585463 0.8036 0.5505 0.7869 Uncertain 13_75915250_-->A 13 75915250 75915250 - A indel 3500.73 0/1 99 207 108 99 0.48 intronic rs35018625 TBC1D4 AU NM_014832 exon15 c.54333-10insA 0.417133 0.7034 0.372105 0.4592 0.6817 Uncertain 13_75915859_C->A 13 75915859 75915859 C A snp 155.77 0/1 99 10 4 6 0.6 intronic rs9888477 TBC1D4 AU NM_014832 exon16 c.54796+136C>A 0.417532 0.6935 Uncertain 13_75923536_-->A 13 75923536 75923536 - A indel 116.73 0/1 73 9 3 6 0.67 intronic rs3831188 TBC1D4 AU NM_014832 exon17 c.62511+98insA 0.5625 0.7946 Uncertain 13_75936519_C->G 13 75936519 75936519 C G snp 3747.77 1/1 99 134 0 134 1.0 exonic rs7983969 TBC1D4 AU synonymous SNV NM_014832 exon2 c.G723C p.G241G 0.995208 1 0.997684 0.9992 0.9999 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000118596.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 13_76101863_T->C 13 76101863 76101863 T C snp 217.77 0/1 99 18 10 8 0.44 intronic rs1408042 COMMD6 AU NM_203497 exon2 c.1224-85T>C 0.520567 0.6617 Uncertain 13_76123902_GGCGGCGGCGGCGAA->- 13 76123902 76123916 GGCGGCGGCGGCGAA - indel 628.73 0/1 99 13 8 5 0.38 UTR5 rs149695719 UCHL3 AU 0.232062 Uncertain 13_76124151_C->T 13 76124151 76124151 C T snp 2878.77 0/1 99 242 122 120 0.5 intronic rs8192738 UCHL3 AU NM_006002 exon2 c.167+28C>T 0.407548 0.6131 0.417500 0.4836 0.6123 Uncertain 13_76135028_T->A 13 76135028 76135028 T A snp 350.77 0/1 99 37 17 20 0.54 intronic rs4884008 UCHL3 AU NM_006002 exon3 c.11061+11T>A 0.499401 0.6359 0.573197 0.6116 0.6256 Uncertain 13_76140815_T->- 13 76140815 76140815 T - indel 853.73 1/1 93 33 1 32 0.97 intronic rs56945758 UCHL3 AU NM_006002 exon4 c.16874-15delT 0.713858 0.7202 0.9763 0.9847 Uncertain 13_76143572_T->C 13 76143572 76143572 T C snp 467.77 0/1 99 42 23 19 0.45 intronic rs2296146 UCHL3 AU NM_006002 exon6 c.19639-23T>C 0.197284 0.3016 0.130171 0.1742 0.3059 Uncertain 13_76169234_G->A 13 76169234 76169234 G A snp 791.77 1/1 57 31 0 31 1.0 intronic rs7330411 UCHL3 AU NM_006002 exon7 c.45170+108G>A 0.984625 1 Uncertain 13_76210742_A->C 13 76210742 76210742 A C snp 557.77 0/1 99 32 8 24 0.75 intronic rs2224797 LMO7 AU NM_005358 exon2 c.1627+13286A>C 0.526957 0.5625 Uncertain 13_76334818_C->T 13 76334818 76334818 C T snp 2341.77 1/1 99 84 0 84 1.0 UTR5 rs7997101 LMO7 AU 0.567891 0.8611 Uncertain 13_76335197_AT->- 13 76335197 76335198 AT - indel 757.77 1/1 20 40 1 39 0.97 intronic rs10594987 LMO7 AU NM_005358 exon5 c.139345+23_139345+24delAT 0.690096 0.9544 0.6504 0.9571 Uncertain 13_76369746_C->T 13 76369746 76369746 C T snp 96.28 1/1 9 3 0 3 1.0 intronic rs668008 LMO7 AU NM_005358 exon6 c.173738+179C>T 0.694289 0.9306 Uncertain 13_76370756_T->- 13 76370756 76370756 T - indel 1914.73 1/1 99 87 6 81 0.93 intronic rs11351364 LMO7 AU NM_005358 exon7 c.174942-15delT 0.405751 0.5268 0.4692 0.5629 Uncertain 13_76378459_T->C 13 76378459 76378459 T C snp 6625.77 1/1 99 233 0 233 1.0 exonic rs625033 LMO7 AU synonymous SNV NM_005358 exon9 c.T852C p.F284F 0.94369 1 0.901584 0.9362 0.9998 1.000 P Uncertain 13_76378737_A->T 13 76378737 76378737 A T snp 903.77 1/1 66 25 0 25 1.0 intronic rs2274062 LMO7 AU NM_015842 exon5 c.215+60A>T 0.407947 0.5952 Uncertain 13_76381530_A->G 13 76381530 76381530 A G snp 1100.77 0/1 99 54 18 36 0.67 intronic rs2241915 LMO7 AU NM_015842 exon7 c.3153-85A>G 0.0461262 0.1389 Uncertain 13_76395278_G->A 13 76395278 76395278 G A snp 490.77 0/1 99 66 42 24 0.36 intronic rs7334674 LMO7 AU NM_015842 exon11 c.16850-34G>A 0.334665 0.2788 0.329156 0.2660 0.2784 Uncertain 13_76395620_C->T 13 76395620 76395620 C T snp 2466.77 0/1 99 209 102 107 0.51 exonic rs9593132 LMO7 AU nonsynonymous SNV NM_015842 exon11 c.C1816T p.R606C 0.0832668 0.121 0.049208 0.0635 0.1256 0.01 T 1.000 P -0.979 T 1.0 D 0.993 D Pathogenic 13_76397731_G->A 13 76397731 76397731 G A snp 519.77 0/1 99 60 34 26 0.43 exonic rs4884021 LMO7 AU nonsynonymous SNV NM_015842 exon12 c.G1972A p.V658I 0.259585 0.2391 0.249731 0.1857 0.2374 0.29 T 0.0 P -0.927 T 0.007 T 0.004 T Pathogenic 13_76408249_A->G 13 76408249 76408249 A G snp 83.77 0/1 69 5 2 3 0.6 intronic rs3736859 LMO7 AU NM_015842 exon14 c.29899-112A>G 0.0794728 0.121 Uncertain 13_76410725_A->G 13 76410725 76410725 A G snp 31.77 0/1 60 8 6 2 0.25 intronic rs2273996 LMO7 AU NM_015842 exon16 c.32131+132A>G 0.646366 0.5308 Uncertain 13_76419422_T->- 13 76419422 76419422 T - indel 477.73 0/1 99 30 15 15 0.5 intronic rs3832886 LMO7 AU NM_015842 exon23 c.41000-40delT 0.684704 0.5357 0.717402 0.7246 0.5482 Uncertain 13_76423248_T->C 13 76423248 76423248 T C snp 844.77 0/1 99 60 31 29 0.48 exonic rs7986131 LMO7 AU nonsynonymous SNV NM_015842 exon24 c.T3485C p.M1162T 0.686901 0.5377 0.719437 0.7203 0.5319 1 T 0.0 P -0.943 T 0.0 T 0.0 T Pathogenic 13_76445155_G->C 13 76445155 76445155 G C snp 1114.77 0/1 99 99 49 50 0.51 upstream rs9544057 LMO7DN AU 0.709665 0.6032 Uncertain 13_76445413_T->G 13 76445413 76445413 T G snp 83.77 0/1 63 5 2 3 0.6 intronic rs79743879 LMO7DN AU NM_001257995 exon1 c.117+34T>G 0.0808706 0.122 0.0728 0.1214 Uncertain 13_77522726_ACTT->- 13 77522726 77522729 ACTT - indel 5373.73 0/1 99 191 94 97 0.51 intergenic rs397694479 BTF3P11 AU 0.303315 0.3185 0.4184 0.3210 Uncertain 13_77522925_T->C 13 77522925 77522925 T C snp 1327.77 1/1 99 38 0 38 1.0 intergenic rs588702 BTF3P11 AU 0.752396 0.7192 Uncertain 13_77527707_A->G 13 77527707 77527707 A G snp 2440.77 0/1 99 224 112 112 0.5 intronic rs9530614 IRG1 AU NM_001258406 exon2 c.1111-27A>G 0.30611 0.3264 0.4231 0.3327 Uncertain 13_77529749_G->A 13 77529749 77529749 G A snp 647.77 0/1 99 48 20 28 0.58 intronic rs35254389 IRG1 AU NM_001258406 exon3 c.3036+90G>A 0.0315495 0.0952 Uncertain 13_77566158_A->G 13 77566158 77566158 A G snp 1123.77 0/1 99 86 39 47 0.55 exonic rs7987664 CLN5 AR synonymous SNV NM_006493 exon1 c.A72G p.G24G 0.112021 0.1488 0.066379 0.0893 0.1601 Uncertain 13_77566414_C->T 13 77566414 77566414 C T snp 250.77 0/1 99 28 16 12 0.43 intronic rs9565308 CLN5 AR NM_006493 exon1 c.320+8C>T 0.0636981 0.1498 0.026726 0.0902 0.1897 CLINSIG=non-pathogenic;CLNDBN=not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000124332.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Uncertain 13_77569901_G->A 13 77569901 77569901 G A snp 1673.77 1/1 99 58 0 58 1.0 intronic rs605153 CLN5 AR NM_006493 exon3 c.3950-135G>A 0.997404 1 Uncertain 13_77570352_T->A 13 77570352 77570352 T A snp 412.77 0/1 99 21 6 15 0.71 intronic rs7328841 CLN5 AR NM_006493 exon3 c.4176+90T>A 0.0636981 0.1498 Uncertain 13_77574983_A->G 13 77574983 77574983 A G snp 1364.77 0/1 99 93 38 55 0.59 exonic rs1800209 CLN5 AR nonsynonymous SNV NM_006493 exon4 c.A1103G p.K368R 0.244609 0.2798 0.188260 0.1417 0.2590 1 T 1.000 P -0.988 T 0.0 T 0.001 T Pathogenic 13_77575137_A->G 13 77575137 77575137 A G snp 493.77 0/1 99 44 21 23 0.52 UTR3 rs9573974 CLN5 AR 0.110623 0.1498 0.062336 0.0676 0.1281 Uncertain 13_77632569_C->A 13 77632569 77632569 C A snp 859.77 0/1 99 65 33 32 0.49 intronic rs9573991 MYCBP2 AU NM_015057 exon6 c.13029+28C>A 0.0984425 0.1806 0.049977 0.0603 0.1586 Uncertain 13_77653081_A->G 13 77653081 77653081 A G snp 85.77 0/1 99 9 3 6 0.67 ncRNA_intronic rs2277418 MYCBP2-AS1 AU 0.104233 0.1825 0.050810 Uncertain 13_77655548_G->A 13 77655548 77655548 G A snp 510.77 0/1 99 38 19 19 0.5 ncRNA_intronic rs2275561 MYCBP2-AS1 AU 0.103435 0.1815 0.055282 0.0602 0.1562 Uncertain 13_77657398_T->C 13 77657398 77657398 T C snp 107.77 0/1 99 12 7 5 0.42 ncRNA_intronic rs9573995 MYCBP2-AS1 AU 0.0676917 0.1815 Uncertain 13_77738664_A->G 13 77738664 77738664 A G snp 2699.77 0/1 99 211 100 111 0.53 exonic rs2274547 MYCBP2 AU synonymous SNV NM_015057 exon43 c.T6472C p.L2158L 0.230232 0.3661 0.152161 0.2032 0.3461 Uncertain 13_77739291_A->T 13 77739291 77739291 A T snp 523.77 0/1 99 47 26 21 0.45 intronic rs9318468 MYCBP2 AU NM_015057 exon42 c.119895-116A>T 0.659744 0.6359 Uncertain 13_77751892_C->T 13 77751892 77751892 C T snp 1619.77 0/1 99 132 63 69 0.52 exonic rs4885445 MYCBP2 AU synonymous SNV NM_015057 exon35 c.G5331A p.L1777L 0.55611 0.5685 0.622559 0.6894 0.6073 Uncertain 13_77781009_A->T 13 77781009 77781009 A T snp 586.77 0/1 99 50 25 25 0.5 intronic rs9635013 MYCBP2 AU NM_015057 exon60 c.161448+49A>T 0.0640974 0.1756 0.009000 0.0408 0.1472 Uncertain 13_77792099_T->C 13 77792099 77792099 T C snp 589.77 0/1 99 80 46 34 0.42 intronic rs79698158 MYCBP2 AU NM_015057 exon63 c.172580+7T>C 0.0305511 0.1448 0.001230 0.0134 0.1360 Uncertain 13_77835520_-->A 13 77835520 77835520 - A indel 499.73 0/1 99 50 15 35 0.7 intronic rs11436373 MYCBP2 AU NM_015057 exon72 c.215998+10insA 0.535144 0.494 0.5348 0.4926 Uncertain 13_78130209_T->C 13 78130209 78130209 T C snp 99.28 1/1 9 3 0 3 1.0 intronic rs581609 SCEL AU NM_001160706 exon2 c.43+156T>C 0.94369 0.9315 Uncertain 13_78142654_A->- 13 78142654 78142654 A - indel 468.73 1/1 45 19 0 19 1.0 intronic rs11325667 SCEL AU NM_001160706 exon7 c.12458+186delA 0.94369 0.9315 Uncertain 13_78146301_C->T 13 78146301 78146301 C T snp 3325.77 1/1 99 125 0 125 1.0 exonic rs678047 SCEL AU synonymous SNV NM_003843 exon9 c.C522T p.S174S 0.991214 1 0.990312 0.9970 1 Uncertain 13_78167535_C->T 13 78167535 78167535 C T snp 238.77 0/1 99 16 6 10 0.63 intronic rs17068033 SCEL AU NM_001160706 exon11 c.37638-113C>T 0.0409345 0.13 Uncertain 13_78177082_T->A 13 78177082 78177082 T A snp 83.77 0/1 69 5 2 3 0.6 ncRNA_intronic rs7490669 SCEL-AS1 AU 0.686502 0.6567 Uncertain 13_78178451_C->T 13 78178451 78178451 C T snp 1017.77 1/1 75 29 0 29 1.0 ncRNA_exonic rs6563011 SCEL-AS1 AU 0.947085 0.9306 0.932399 0.9310 0.9176 Uncertain 13_78178550_G->A 13 78178550 78178550 G A snp 1733.77 0/1 99 152 78 74 0.49 exonic rs2274016 SCEL AU nonsynonymous SNV NM_003843 exon18 c.G1097A p.R366K 0.235224 0.5923 0.098431 0.1459 0.5834 0.81 T 1.0 P -0.998 T 0.974 D 0.969 D Pathogenic 13_78183167_G->C 13 78183167 78183167 G C snp 462.77 1/1 36 17 0 17 1.0 intronic rs912293 SCEL AU NM_001160706 exon19 c.53182-25G>C 0.947085 0.9306 0.932824 0.9324 0.9183 Uncertain 13_78187846_A->G 13 78187846 78187846 A G snp 141.03 1/1 12 5 0 5 1.0 intronic rs4595685 SCEL AU NM_001160706 exon22 c.58017-181A>G 0.949681 0.9454 Uncertain 13_78188125_G->A 13 78188125 78188125 G A snp 760.77 0/1 99 62 29 33 0.53 intronic rs80065012 SCEL AU NM_001160706 exon22 c.58080+35G>A 0.0413339 0.1319 0.010534 0.0347 0.1367 Uncertain 13_78191824_G->T 13 78191824 78191824 G T snp 1516.77 1/1 99 51 0 51 1.0 intronic rs4142585 SCEL AU NM_001160706 exon23 c.61783+31G>T 0.998802 1 0.998840 0.9997 1 Uncertain 13_78192207_T->C 13 78192207 78192207 T C snp 1309.77 0/1 99 102 53 49 0.48 intronic rs9574090 SCEL AU NM_001160706 exon25 c.62185+12T>C 0.594649 0.3274 0.663002 0.6681 0.3266 Uncertain 13_78211390_T->C 13 78211390 78211390 T C snp 40.77 0/1 69 5 3 2 0.4 intronic rs200284729 SCEL AU NM_001160706 exon28 c.81319+61T>C 0.0692891 0.128 Uncertain 13_78211402_T->C 13 78211402 78211402 T C snp 56.74 1/1 6 2 0 2 1.0 intronic rs2016417 SCEL AU NM_001160706 exon28 c.81319+73T>C 0.544928 0.3175 Uncertain 13_78216873_A->G 13 78216873 78216873 A G snp 722.77 0/1 99 64 29 35 0.55 exonic rs1053985 SCEL AU synonymous SNV NM_001160706 exon30 c.A1854G p.L618L 0.41234 0.1825 0.515233 0.5294 0.1655 Uncertain 13_78218345_G->T 13 78218345 78218345 G T snp 410.77 0/1 99 59 40 19 0.32 intronic rs2274014 SCEL AU NM_001160706 exon31 c.88382-47G>T 0.0419329 0.1339 0.011379 0.0357 0.1394 Uncertain 13_78272267_-->GG 13 78272267 78272267 - GG indel 558.73 1/1 36 12 0 12 1.0 exonic rs201380414 SLAIN1 AU frameshift insertion NM_001242868 exon1 c.219_220insGG p.A73fs 0 . Pathogenic 13_78272276_-->C 13 78272276 78272276 - C indel 361.74 1/1 30 10 0 10 1.0 exonic rs542815284 SLAIN1 AU frameshift insertion NM_001242868 exon1 c.229dupC p.Q76fs 1 1 0 . Pathogenic 13_78477674_A->G 13 78477674 78477674 A G snp 3279.77 1/1 99 123 0 123 1.0 exonic rs5348 EDNRB AR,AD synonymous SNV NM_000115 exon3 c.T552C p.S184S 0.983826 0.998 0.984930 0.9949 0.9999 Uncertain 13_79175475_G->C 13 79175475 79175475 G C snp 364.77 0/1 99 30 17 13 0.43 ncRNA_intronic RNF219-AS1 AU Uncertain 13_79177291_G->A 13 79177291 79177291 G A snp 528.77 0/1 99 22 5 17 0.77 ncRNA_intronic rs9601093 RNF219-AS1 AU 0.250399 0.3313 0.4261 0.5455 Uncertain 13_79194670_G->A 13 79194670 79194670 G A snp 1286.77 0/1 99 95 47 48 0.51 intronic rs9593348 RNF219 AU NM_024546 exon1 c.1543+3413G>A 0.146565 0.2619 Uncertain 13_79194751_GA->- 13 79194751 79194752 GA - indel 3681.73 0/1 99 169 76 93 0.55 intronic rs35712557 RNF219 AU NM_024546 exon1 c.1543+3494_1543+3495delGA 0.348043 0.376 0.3335 0.4192 Uncertain 13_79209382_A->C 13 79209382 79209382 A C snp 331.77 0/1 99 26 15 11 0.42 intronic rs9805409 RNF219 AU NM_024546 exon2 c.19619+49A>C 0.348243 0.3333 0.370308 0.3598 0.3136 Uncertain 13_79213315_A->T 13 79213315 79213315 A T snp 248.77 0/1 99 24 15 9 0.38 intronic rs143879144 RNF219 AU NM_024546 exon3 c.23492+109A>T 0.00119808 0.006 Uncertain 13_79216178_G->A 13 79216178 79216178 G A snp 79.77 0/1 99 9 5 4 0.44 intronic rs9601108 RNF219 AU NM_024546 exon4 c.26542-78G>A 0.348243 0.3333 Uncertain 13_79216418_A->G 13 79216418 79216418 A G snp 295.77 0/1 99 21 9 12 0.57 intronic rs7327732 RNF219 AU NM_024546 exon4 c.26634+70A>G 0.359225 0.3333 Uncertain 13_79766188_A->G 13 79766188 79766188 A G snp 2950.77 0/1 99 206 82 124 0.6 intergenic rs2988039 LINC00331 AU 0.506589 0.6607 0.382723 0.3571 0.7111 Uncertain 13_79894877_C->A 13 79894877 79894877 C A snp 160.77 0/1 99 23 15 8 0.35 intronic RBM26 AU NM_001286631 exon1 c.90+32C>A Uncertain 13_79916792_-->A 13 79916792 79916792 - A indel 2421.73 1/1 99 63 0 63 1.0 intronic rs374223990 RBM26 AU NM_001286631 exon6 c.22043-6insA 0.982428 1 0.985856 0.9959 1 Uncertain 13_79918323_T->C 13 79918323 79918323 T C snp 535.77 1/1 39 19 0 19 1.0 intronic rs2274555 RBM26 AU NM_001286631 exon7 c.23627-59T>C 0.519369 0.7272 0.464693 Uncertain 13_79928477_A->G 13 79928477 79928477 A G snp 350.78 1/1 27 12 0 12 1.0 intronic rs9574411 RBM26 AU NM_001286631 exon10 c.33818-96A>G 0.519369 0.7272 Uncertain 13_79932617_A->G 13 79932617 79932617 A G snp 396.77 1/1 30 14 0 14 1.0 intronic rs7994560 RBM26 AU NM_001286631 exon12 c.37813+49A>G 0.982428 1 0.985824 0.9960 1 Uncertain 13_79933932_T->C 13 79933932 79933932 T C snp 90.28 1/1 9 3 0 3 1.0 intronic rs9601217 RBM26 AU NM_001286631 exon13 c.39066+111T>C 0.520567 0.7272 Uncertain 13_79939606_C->A 13 79939606 79939606 C A snp 1048.77 1/1 78 30 0 30 1.0 intronic rs7319252 RBM26 AU NM_001286631 exon14 c.44957-106C>A 0.519569 0.7272 Uncertain 13_79939922_AAGAGA->- 13 79939922 79939927 AAGAGA - indel 937.73 1/1 36 15 0 15 1.0 intronic rs11279869 RBM26 AU NM_001286631 exon14 c.45113+54_45113+59delAAGAGA 0.516174 0.7272 Uncertain 13_79946163_G->C 13 79946163 79946163 G C snp 141.03 1/1 12 4 0 4 1.0 intronic rs7325232 RBM26 AU NM_001286631 exon19 c.51310+98G>C 0.981829 0.997 Uncertain 13_79951356_C->T 13 79951356 79951356 C T snp 44.74 1/1 6 2 0 2 1.0 intronic rs7998224 RBM26 AU NM_001286631 exon20 c.56758-157C>T 0.997005 1 Uncertain 13_80910786_C->A 13 80910786 80910786 C A snp 1485.77 1/1 99 51 0 51 1.0 UTR3 rs4728 SPRY2 AD 0.598842 0.7292 0.6560 0.7319 1 T 1.0 P -1.010 T Uncertain 13_80910851_A->C 13 80910851 80910851 A C snp 2377.77 1/1 99 88 0 88 1.0 UTR3 rs11911 SPRY2 AD 0.296126 0.4355 0.285471 0.4980 0.5760 0.14 T 0.0 P -1.027 T Uncertain 13_80911525_G->A 13 80911525 80911525 G A snp 1938.77 0/1 99 161 84 77 0.48 exonic rs504122 SPRY2 AD nonsynonymous SNV NM_005842 exon2 c.C316T p.P106S 0.286741 0.4345 0.264570 0.3540 0.4629 0.2 T 0.003 P -0.974 T 0.0 T 0.001 T Pathogenic 13_83597934_A->T 13 83597934 83597934 A T snp 308.78 1/1 24 12 0 12 1.0 intergenic rs2639486 LINC00564 AU 0.571086 0.5327 0.592570 0.5544 0.6394 Uncertain 13_83598060_C->T 13 83598060 83598060 C T snp 137.03 1/1 12 5 0 5 1.0 intergenic rs2807479 LINC00564 AU 0.571286 0.5317 Uncertain 13_86369120_C->T 13 86369120 86369120 C T snp 5283.77 1/1 99 186 1 185 0.99 exonic rs3825413 SLITRK6 AR synonymous SNV NM_032229 exon2 c.G1524A p.L508L 0.75 0.6964 0.766097 0.7210 0.6961 Uncertain 13_87045827_T->C 13 87045827 87045827 T C snp 331.77 0/1 99 40 23 17 0.42 intergenic rs9513670 SLITRK6 AR 0.4375 0.7004 0.378402 0.4891 0.6878 Uncertain 13_88270841_TGT->- 13 88270841 88270843 TGT - indel 2441.73 1/1 99 49 1 48 0.98 ncRNA_intronic rs397771872 MIR4500HG AU 0.42512 0.2192 Uncertain 13_88270860_A->G 13 88270860 88270860 A G snp 2322.77 1/1 99 69 0 69 1.0 ncRNA_intronic rs956960 MIR4500HG AU 0.426118 0.2202 Uncertain 13_92345387_G->A 13 92345387 92345387 G A snp 975.77 0/1 99 67 29 38 0.57 intronic rs554857 GPC5 AU NM_004466 exon3 c.294140-53G>A 0.253395 0.2907 Uncertain 13_92345579_C->T 13 92345579 92345579 C T snp 2733.77 0/1 99 242 126 116 0.48 exonic rs553717 GPC5 AU nonsynonymous SNV NM_004466 exon3 c.C464T p.A155V 0.196885 0.2897 0.137783 0.1402 0.2914 0.04 T 0.936 P -1.066 T 0.013 T 0.014 T Pathogenic 13_92408505_T->G 13 92408505 92408505 T G snp 267.77 0/1 99 18 8 10 0.56 intronic rs3783054 GPC5 AU NM_004466 exon5 c.357248-43T>G 0.411941 0.6101 0.320720 0.4092 0.6428 Uncertain 13_92560425_G->T 13 92560425 92560425 G T snp 152.77 0/1 99 14 8 6 0.43 intronic rs1854735 GPC5 AU NM_004466 exon6 c.509011+114G>T 0.505791 0.6796 Uncertain 13_92796964_G->A 13 92796964 92796964 G A snp 156.77 0/1 99 9 4 5 0.56 intronic rs12429836 GPC5 AU NM_004466 exon7 c.745782-118G>A 0.381589 0.5506 Uncertain 13_93142312_T->A 13 93142312 93142312 T A snp 537.77 0/1 99 45 22 23 0.51 intronic rs2149060 GPC5 AU NM_004466 exon7 c.745942+345070T>A 0.605232 0.7391 Uncertain 13_93142362_C->T 13 93142362 93142362 C T snp 1097.77 0/1 99 91 43 48 0.53 intronic rs722178 GPC5 AU NM_004466 exon7 c.745942+345120C>T 0.78774 0.8026 Uncertain 13_94938785_A->G 13 94938785 94938785 A G snp 251.77 0/1 99 25 14 11 0.44 intronic rs1409174 GPC6 AR NM_005708 exon5 c.1059024+52A>G 0.701677 0.7034 0.678630 0.6033 0.7100 Uncertain 13_95034749_G->A 13 95034749 95034749 G A snp 1049.77 0/1 99 82 38 44 0.54 exonic rs1535692 GPC6 AR nonsynonymous SNV NM_005708 exon7 c.G1234A p.V412M 0.170927 0.2093 0.153006 0.2106 0.2176 0.68 T 0.316 P -1.019 T 0.112 T 0.064 T Pathogenic 13_95034763_G->A 13 95034763 95034763 G A snp 1002.77 0/1 99 80 41 39 0.49 exonic rs2274020 GPC6 AR synonymous SNV NM_005708 exon7 c.G1248A p.T416T 0.159545 0.2897 0.096417 0.1187 0.2711 Uncertain 13_95055136_A->C 13 95055136 95055136 A C snp 71.77 0/1 99 8 5 3 0.38 intronic rs9556370 GPC6 AR NM_005708 exon9 c.1175559-132A>C 0.102835 0.1538 Uncertain 13_95090692_T->A 13 95090692 95090692 T A snp 187.77 0/1 99 12 6 6 0.5 intergenic rs1540979 GPC6 AR 0.704273 0.2937 Uncertain 13_95096505_G->A 13 95096505 95096505 G A snp 144.77 0/1 99 13 7 6 0.46 intronic rs7339198 DCT AU NM_001129889 exon2 c.3740+614G>A 0.673123 0.2629 Uncertain 13_95097956_C->T 13 95097956 95097956 C T snp 1821.77 0/1 99 185 97 88 0.48 intronic rs755684 DCT AU NM_001129889 exon3 c.5821-16C>T 0.628594 0.245 0.805556 0.7531 0.3837 Uncertain 13_95231981_T->C 13 95231981 95231981 T C snp 54.74 1/1 6 2 0 2 1.0 intronic rs2275648 TGDS AR NM_014305 exon6 c.5112-166T>C 0.701278 0.5942 Uncertain 13_95243270_G->A 13 95243270 95243270 G A snp 4581.77 1/1 99 172 0 172 1.0 intronic rs9301979 TGDS AR NM_014305 exon9 c.16162+73G>A 0.698482 0.5923 Uncertain 13_95254031_C->T 13 95254031 95254031 C T snp 54.74 1/1 6 2 0 2 1.0 upstream rs3897474 GPR180 AU 0.722444 0.6776 Uncertain 13_95273447_G->A 13 95273447 95273447 G A snp 1207.77 0/1 99 137 83 54 0.39 exonic rs12429818 GPR180 AU synonymous SNV NM_180989 exon6 c.G852A p.T284T 0.165735 0.2728 0.085576 0.1609 0.2777 Uncertain 13_95363617_C->G 13 95363617 95363617 C G snp 426.77 0/1 99 36 15 21 0.58 exonic rs6492735 SOX21 AU synonymous SNV NM_007084 exon1 c.G687C p.P229P 0.124201 0.1002 0.075795 0.2716 0.23 Uncertain 13_95364046_C->G 13 95364046 95364046 C G snp 2114.77 0/1 99 161 76 85 0.53 exonic rs1060474 SOX21 AU synonymous SNV NM_007084 exon1 c.G258C p.L86L 0.380391 0.4692 0.382362 0.4185 0.4941 Uncertain 13_95364337_T->G 13 95364337 95364337 T G snp 2901.77 1/1 99 101 0 101 1.0 UTR5 rs2253604 SOX21 AU 0.775559 0.6121 0.869192 0.7933 0.6504 Uncertain 13_95673791_A->C 13 95673791 95673791 A C snp 3976.77 1/1 99 161 0 161 1.0 UTR3 rs3742106 ABCC4 AU 0.414936 0.504 0.374673 0.4062 0.5054 Uncertain 13_95714858_A->C 13 95714858 95714858 A C snp 50.74 1/1 6 2 0 2 1.0 intronic rs1751033 ABCC4 AU NM_001301829 exon6 c.41129-99A>C 0.813498 0.7847 Uncertain 13_95714891_G->C 13 95714891 95714891 G C snp 260.8 1/1 21 7 0 7 1.0 intronic rs1729747 ABCC4 AU NM_001301829 exon6 c.41129-66G>C 0.794329 0.7847 Uncertain 13_95714976_C->T 13 95714976 95714976 C T snp 2688.77 1/1 99 97 0 97 1.0 exonic rs1751034 ABCC4 AU synonymous SNV NM_005845 exon26 c.G3348A p.K1116K 0.794329 0.7847 0.796555 0.8121 0.7829 Uncertain 13_95715149_AAAG->- 13 95715149 95715152 AAAG - indel 2027.73 1/1 99 52 4 48 0.92 intronic rs202097426 ABCC4 AU NM_001301829 exon6 c.41285+36_41285+39delAAAG 0.623403 0.6389 0.5777 0.5530 Uncertain 13_95723788_T->C 13 95723788 95723788 T C snp 222.84 1/1 18 6 0 6 1.0 intronic rs1189461 ABCC4 AU NM_001301829 exon7 c.50087-127T>C 0.851038 0.7946 Uncertain 13_95726541_A->G 13 95726541 95726541 A G snp 6801.77 1/1 99 250 0 250 1.0 exonic rs1189466 ABCC4 AU synonymous SNV NM_005845 exon23 c.T2844C p.F948F 0.903554 0.7956 0.945333 0.9335 0.7903 Uncertain 13_95727780_T->C 13 95727780 95727780 T C snp 2499.77 1/1 99 86 0 86 1.0 exonic rs1678339 ABCC4 AU synonymous SNV NM_005845 exon22 c.A2712G p.L904L 0.88778 0.7946 0.925803 0.9283 0.7924 Uncertain 13_95735604_G->T 13 95735604 95735604 G T snp 2277.77 1/1 99 78 0 78 1.0 intronic rs1189437 ABCC4 AU NM_001301829 exon11 c.61716+60G>T 0.874201 0.7798 Uncertain 13_95815415_C->T 13 95815415 95815415 C T snp 1354.77 0/1 99 99 46 53 0.54 exonic rs3765534 ABCC4 AU nonsynonymous SNV NM_005845 exon18 c.G2269A p.E757K 0.0311502 0.0764 0.007767 0.0237 0.0692 0.77 T 1 N -0.992 T 0.037 T 0.015 T Pathogenic 13_95829843_G->A 13 95829843 95829843 G A snp 317.77 0/1 99 16 5 11 0.69 intronic rs2296653 ABCC4 AU NM_001301829 exon18 c.156132-117G>A 0.482827 0.5774 Uncertain 13_95829870_T->C 13 95829870 95829870 T C snp 767.77 1/1 57 26 0 26 1.0 intronic rs1751005 ABCC4 AU NM_001301829 exon18 c.156132-90T>C 0.764776 0.7946 Uncertain 13_95847020_A->G 13 95847020 95847020 A G snp 1319.77 0/1 99 82 29 53 0.65 intronic rs2274403 ABCC4 AU NM_001301829 exon22 c.173261-69A>G 0.501398 0.5446 Uncertain 13_95858686_G->A 13 95858686 95858686 G A snp 366.77 0/1 99 27 14 13 0.48 intronic rs3818493 ABCC4 AU NM_001301829 exon23 c.184957-99G>A 0.624601 0.5347 Uncertain 13_95858704_G->C 13 95858704 95858704 G C snp 607.77 0/1 99 38 16 22 0.58 intronic rs3818494 ABCC4 AU NM_001301829 exon23 c.184957-81G>C Uncertain 13_95858978_T->C 13 95858978 95858978 T C snp 2149.77 0/1 99 198 101 97 0.49 exonic rs2274405 ABCC4 AU synonymous SNV NM_005845 exon8 c.A969G p.S323S 0.625998 0.5337 0.664078 0.6362 0.5333 Uncertain 13_95858996_T->C 13 95858996 95858996 T C snp 2045.77 0/1 99 203 108 95 0.47 exonic rs2274406 ABCC4 AU synonymous SNV NM_005845 exon8 c.A951G p.R317R 0.518171 0.5327 0.560895 0.6043 0.5306 Uncertain 13_95859974_T->C 13 95859974 95859974 T C snp 116.77 0/1 99 8 4 4 0.5 intronic rs2274408 ABCC4 AU NM_001301829 exon24 c.186225-79T>C 0.520367 0.5327 Uncertain 13_95860288_C->A 13 95860288 95860288 C A snp 409.77 0/1 99 28 14 14 0.5 intronic rs2274410 ABCC4 AU NM_001301829 exon24 c.186351+109C>A 0.517772 0.5317 Uncertain 13_95861804_A->G 13 95861804 95861804 A G snp 2370.77 1/1 99 83 0 83 1.0 exonic rs899494 ABCC4 AU synonymous SNV NM_005845 exon6 c.T669C p.I223I 0.807508 0.8125 0.830232 0.8289 0.7827 Uncertain 13_95861981_C->G 13 95861981 95861981 C G snp 143.03 1/1 12 5 0 5 1.0 intronic rs1678403 ABCC4 AU NM_001301829 exon25 c.188023+130C>G 0.742812 0.6935 Uncertain 13_95861997_G->T 13 95861997 95861997 G T snp 130.03 1/1 12 4 0 4 1.0 intronic rs2389203 ABCC4 AU NM_001301829 exon25 c.188023+146G>T 0.72524 0.6915 Uncertain 13_95862861_GAGT->- 13 95862861 95862864 GAGT - indel 2738.73 1/1 99 40 0 40 1.0 intronic rs3046400 ABCC4 AU NM_001301829 exon26 c.189117-84_189117-81delGAGT 0.477236 0.3859 Uncertain 13_95862896_A->G 13 95862896 95862896 A G snp 1581.77 1/1 99 58 0 58 1.0 intronic rs899496 ABCC4 AU NM_001301829 exon26 c.189117-49A>G 0.711462 0.6944 0.744349 0.7719 0.6701 Uncertain 13_95863143_A->G 13 95863143 95863143 A G snp 1055.77 1/1 78 34 0 34 1.0 intronic rs899497 ABCC4 AU NM_001301829 exon26 c.189207+108A>G 0.711262 0.6944 Uncertain 13_95863234_A->G 13 95863234 95863234 A G snp 99.28 1/1 9 3 0 3 1.0 intronic rs4148471 ABCC4 AU NM_001301829 exon26 c.189207+199A>G 0.711661 0.6944 Uncertain 13_95899354_A->G 13 95899354 95899354 A G snp 2998.77 1/1 99 112 2 110 0.98 splicing rs4148437 ABCC4 AU NM_001301829 exon28 c.225521+5A>G 0.214657 0.1895 0.272643 0.3047 0.1797 Pathogenic 13_95900071_C->T 13 95900071 95900071 C T snp 3276.77 1/1 99 118 0 118 1.0 intronic rs9556466 ABCC4 AU NM_001301829 exon29 c.226179+64C>T 0.214058 0.1875 Uncertain 13_96234753_C->T 13 96234753 96234753 C T snp 34.77 0/1 33 3 1 2 0.67 intronic rs7324781 DZIP1 AU NM_198968 exon1 c.80+186C>T 0.63139 0.4196 Uncertain 13_96238317_G->A 13 96238317 96238317 G A snp 472.77 0/1 99 45 25 20 0.44 exonic rs376691260 DZIP1 AU synonymous SNV NM_014934 exon20 c.C2235T p.V745V 0.000231 3.307e-05 0 Uncertain 13_96251524_A->C 13 96251524 96251524 A C snp 761.77 0/1 99 72 40 32 0.44 intronic rs4497528 DZIP1 AU NM_198968 exon9 c.17131-94A>C 0.309505 0.2659 Uncertain 13_96285729_A->G 13 96285729 96285729 A G snp 173.77 0/1 99 14 8 6 0.43 intronic rs3742150 DZIP1 AU NM_198968 exon18 c.51088+154A>G 0.759984 0.7887 Uncertain 13_96410115_C->T 13 96410115 96410115 C T snp 1108.77 0/1 99 108 61 47 0.44 intronic rs3087339 DNAJC3 AR NM_006260 exon5 c.80541+65C>T 0.453275 0.3988 Uncertain 13_96454126_A->G 13 96454126 96454126 A G snp 1168.77 0/1 99 75 30 45 0.6 intronic rs9590329 UGGT2 AU NM_020121 exon1 c.23+60A>G 0.096246 0.1429 0.071616 Uncertain 13_96484751_G->A 13 96484751 96484751 G A snp 44.74 1/1 6 2 0 2 1.0 intronic rs3125432 UGGT2 AU NM_020121 exon2 c.31137-429G>A 0.928914 1 Uncertain 13_96485417_A->G 13 96485417 96485417 A G snp 323.77 0/1 99 21 11 10 0.48 intronic rs3099359 UGGT2 AU NM_020121 exon2 c.31264+110A>G 0.269169 0.2837 Uncertain 13_96505952_T->C 13 96505952 96505952 T C snp 1021.77 0/1 99 70 34 36 0.51 intronic rs3099360 UGGT2 AU NM_020121 exon4 c.51868+41T>C 0.351238 0.4643 0.339819 0.3998 0.4745 Uncertain 13_96508527_C->T 13 96508527 96508527 C T snp 2670.77 0/1 99 245 129 116 0.47 exonic rs544038565 UGGT2 AU nonsynonymous SNV NM_020121 exon34 c.G3893A p.R1298H 0.000199681 0.001 0.0002 0.0021 0.4 T 1 D -1.087 T 0.249 T 0.262 T Pathogenic 13_96513187_T->C 13 96513187 96513187 T C snp 674.77 0/1 99 55 27 28 0.51 intronic rs34859372 UGGT2 AU NM_020121 exon8 c.59094+50T>C 0.260982 0.2659 0.298583 0.3419 0.2815 Uncertain 13_96529411_C->T 13 96529411 96529411 C T snp 318.77 0/1 73 15 4 11 0.73 intronic rs9590338 UGGT2 AU NM_020121 exon11 c.75489-121C>T 0.0798722 0.1429 Uncertain 13_96540141_T->C 13 96540141 96540141 T C snp 1017.77 1/1 72 42 0 42 1.0 splicing rs9525075 UGGT2 AU NM_020121 exon14 c.86102-4T>C 0.965455 1 0.969538 0.9911 1 Pathogenic 13_96540143_T->C 13 96540143 96540143 T C snp 1010.77 1/1 72 42 0 42 1.0 splicing rs9525076 UGGT2 AU NM_020121 exon14 c.86102-2T>C 0.965455 1 0.969538 0.9911 1 Pathogenic 13_96579462_T->C 13 96579462 96579462 T C snp 423.77 0/1 99 44 27 17 0.39 splicing rs9525086 UGGT2 AU NM_020121 exon22 c.125423-4T>C 0.353435 0.4702 0.345899 0.4005 0.4747 Pathogenic 13_96601679_C->T 13 96601679 96601679 C T snp 273.77 0/1 99 31 16 15 0.48 exonic rs35405829 UGGT2 AU synonymous SNV NM_020121 exon13 c.G1365A p.L455L 0.0884585 0.1399 0.050531 0.0495 0.1387 Uncertain 13_96624836_A->G 13 96624836 96624836 A G snp 774.77 0/1 99 76 38 38 0.5 exonic rs35923904 UGGT2 AU synonymous SNV NM_020121 exon11 c.T1182C p.F394F 0.0459265 0.1141 0.015916 0.0218 0.1091 Uncertain 13_96638636_A->C 13 96638636 96638636 A C snp 1480.77 1/1 99 59 0 59 1.0 exonic rs816142 UGGT2 AU nonsynonymous SNV NM_020121 exon9 c.T982G p.S328A 0.841653 0.9276 0.852239 0.8599 0.9269 1 T 1.0 P -0.966 T 0.001 T 0.002 T Pathogenic 13_96641695_T->G 13 96641695 96641695 T G snp 1078.77 1/1 78 38 0 38 1.0 intronic rs555120 UGGT2 AU NM_020121 exon32 c.188183-531T>G 0.965455 1 Uncertain 13_96684051_C->T 13 96684051 96684051 C T snp 644.77 0/1 99 35 15 20 0.57 intronic rs3825423 UGGT2 AU NM_020121 exon38 c.230099-91C>T 0.0822684 0.1389 Uncertain 13_97639414_C->T 13 97639414 97639414 C T snp 6200.77 1/1 99 207 0 207 1.0 exonic rs9284174 OXGR1 AU synonymous SNV NM_080818 exon4 c.G600A p.L200L 0.522764 0.4544 0.546209 0.5219 0.4371 Uncertain 13_98628888_G->A 13 98628888 98628888 G A snp 532.77 0/1 99 57 30 27 0.47 intronic rs547155152 IPO5 AU NM_002271 exon4 c.6912-58G>A 0.00638978 0.0317 Uncertain 13_98634708_A->T 13 98634708 98634708 A T snp 1111.77 0/1 99 108 58 50 0.46 intronic rs78449462 IPO5 AU NM_002271 exon5 c.12722-48A>T 0.0103834 0.0496 0.000538 0.0074 0.0622 Uncertain 13_98640318_C->T 13 98640318 98640318 C T snp 618.77 0/1 99 63 31 32 0.51 intronic rs592246 IPO5 AU NM_002271 exon7 c.19281-997C>T 0.635982 0.3909 Uncertain 13_98662070_T->C 13 98662070 98662070 T C snp 411.77 0/1 99 26 11 15 0.58 intronic IPO5 AU NM_002271 exon19 c.40100-64T>C Uncertain 13_98828260_T->A 13 98828260 98828260 T A snp 56.74 1/1 6 2 0 2 1.0 UTR3 rs774690 RNF113B AU 0.750998 0.9335 Uncertain 13_98829176_T->C 13 98829176 98829176 T C snp 4551.77 1/1 99 169 0 169 1.0 exonic rs628778 RNF113B AU synonymous SNV NM_178861 exon1 c.A315G p.P105P 0.75 0.9345 0.768030 0.8858 0.9400 Uncertain 13_98896776_C->T 13 98896776 98896776 C T snp 430.77 0/1 99 49 31 18 0.37 exonic rs7318267 FARP1 AU nonsynonymous SNV NM_001001715 exon3 c.C203T p.T68I 0.376997 0.6171 0.337921 0.4052 0.6302 0 D 0.0 P -0.947 T 0.001 T 0.001 T Pathogenic 13_99061556_-->T 13 99061556 99061556 - T indel 2785.73 1/1 99 101 1 100 0.99 intronic rs397750151 FARP1 AU NM_001286839 exon14 c.196095-35insT 0.988818 1 0.9690 0.9758 Uncertain 13_99088006_G->A 13 99088006 99088006 G A snp 1248.77 0/1 99 121 70 51 0.42 intronic rs1792 FARP1 AU NM_001286839 exon19 c.222464+46G>A 0.294129 0.2778 0.252960 0.2639 0.2751 Uncertain 13_99088113_C->T 13 99088113 99088113 C T snp 1588.77 0/1 99 149 78 71 0.48 intronic rs1998535 FARP1 AU NM_001286839 exon19 c.222464+153C>T 0.29353 0.2907 0.3224 0.3380 0.0 P -0.967 T Uncertain 13_99090167_G->- 13 99090167 99090167 G - indel 2204.73 1/1 99 55 0 55 1.0 intronic rs59023150 FARP1 AU NM_001286839 exon20 c.224616+55delG 0.911542 0.995 Uncertain 13_99090168_G->T 13 99090168 99090168 G T snp 386.77 0/1 99 53 34 19 0.36 intronic rs1969794 FARP1 AU NM_001286839 exon20 c.224616+56G>T 0.334665 0.4573 Uncertain 13_99092052_G->T 13 99092052 99092052 G T snp 85.77 0/1 99 14 10 4 0.29 intronic rs4772080 FARP1 AU NM_001286839 exon23 c.226718-162G>T 0.408946 0.4643 Uncertain 13_99093094_T->C 13 99093094 99093094 T C snp 2078.77 1/1 99 73 0 73 1.0 splicing rs2146998 FARP1 AU NM_001286839 exon25 c.227594+4T>C 0.997804 1 0.998461 0.9995 1 Pathogenic 13_99098318_C->T 13 99098318 99098318 C T snp 1570.77 0/1 99 137 67 70 0.51 intronic rs2274053 FARP1 AU NM_001286839 exon26 c.232855-33C>T 0.64377 0.6409 0.782716 0.7537 0.6283 Uncertain 13_99098470_C->T 13 99098470 99098470 C T snp 1097.77 0/1 99 83 39 44 0.53 intronic rs2274054 FARP1 AU NM_001286839 exon26 c.232963+11C>T 0.555911 0.63 0.692680 0.7121 0.6052 Uncertain 13_99098882_A->C 13 99098882 99098882 A C snp 2383.77 0/1 99 217 116 101 0.47 intronic rs2281766 FARP1 AU NM_001286839 exon27 c.233423-37A>C 0.584265 0.6429 0.715055 0.7235 0.6153 Uncertain 13_99100547_T->C 13 99100547 99100547 T C snp 1306.77 0/1 99 119 63 56 0.47 exonic rs12261 FARP1 AU synonymous SNV NM_005766 exon27 c.T3114C p.S1038S 0.502396 0.5625 0.548593 0.5414 0.5730 Uncertain 13_99105529_T->C 13 99105529 99105529 T C snp 726.77 0/1 99 60 28 32 0.53 intronic rs80183281 STK24 AU NM_003576 exon1 c.37+66T>C 0.00339457 0.0169 Uncertain 13_99112468_-->GCCTGAC 13 99112468 99112468 - GCCTGAC indel 2622.73 0/1 99 52 24 28 0.54 intronic rs112280830 STK24 AU NM_003576 exon3 c.7199-157insGCCTGAC Uncertain 13_99112680_C->T 13 99112680 99112680 C T snp 3148.77 1/1 99 101 0 101 1.0 exonic rs4771305 STK24 AU synonymous SNV NM_001286649 exon8 c.G1011A p.P337P 0.997804 1 0.998539 0.9995 1 1.000 P -1.014 T Likely benign 13_99112754_T->G 13 99112754 99112754 T G snp 584.77 0/1 99 50 26 24 0.48 intronic rs4772083 STK24 AU NM_003576 exon3 c.7268+60T>G 0.648163 0.7044 0.762155 Uncertain 13_99112755_T->C 13 99112755 99112755 T C snp 589.77 0/1 99 49 25 24 0.49 intronic rs4772084 STK24 AU NM_003576 exon3 c.7268+61T>C 0.648163 0.7044 0.763688 Uncertain 13_99115839_A->- 13 99115839 99115839 A - indel 592.73 1/1 47 31 2 29 0.94 intronic rs2296150 STK24 AU NM_003576 exon5 c.10518-105delA 0.765575 0.7659 Uncertain 13_99115927_A->G 13 99115927 99115927 A G snp 1437.77 0/1 99 132 69 63 0.48 intronic rs2296149 STK24 AU NM_003576 exon5 c.10518-17A>G 0.735823 0.7212 0.856528 0.8031 0.7275 Uncertain 13_99340037_C->T 13 99340037 99340037 C T snp 622.77 1/1 48 16 0 16 1.0 intronic rs950905 SLC15A1 AU NM_005073 exon3 c.3001+59C>T 0.255192 0.374 Uncertain 13_99340085_G->A 13 99340085 99340085 G A snp 133.03 1/1 12 4 0 4 1.0 intronic rs950906 SLC15A1 AU NM_005073 exon3 c.3001+107G>A 0.179313 0.371 Uncertain 13_99374306_C->T 13 99374306 99374306 C T snp 113.77 0/1 99 7 3 4 0.57 intronic rs4646219 SLC15A1 AU NM_005073 exon18 c.37180+149C>T 0.286342 0.4395 Uncertain 13_99376181_C->T 13 99376181 99376181 C T snp 1366.77 0/1 99 77 26 51 0.66 exonic rs2297322 SLC15A1 AU nonsynonymous SNV NM_005073 exon5 c.G350A p.S117N 0.308506 0.4385 0.173920 0.2138 0.4416 0.69 T 0.000 P -0.950 T 0.018 T 0.03 T ID=CM096200;DIS=Inflammatory bowel disease, association with;TAG=DFP;PUB=19462432 DFP Pathogenic 13_99376482_G->C 13 99376482 99376482 G C snp 320.78 1/1 27 9 0 9 1.0 intronic rs4350452 SLC15A1 AU NM_005073 exon19 c.39308+197G>C 0.721845 0.6548 Uncertain 13_99404743_T->A 13 99404743 99404743 T A snp 404.22 0/1 4 14 1 13 0.93 intronic rs4646208 SLC15A1 AU NM_005073 exon23 c.67871-105T>A 0.249401 0.0804 Uncertain 13_99404761_C->T 13 99404761 99404761 C T snp 430.77 0/1 42 18 2 16 0.89 intronic rs4646207 SLC15A1 AU NM_005073 exon23 c.67871-87C>T 0.255192 0.0804 Uncertain 13_99447005_T->C 13 99447005 99447005 T C snp 1378.77 1/1 99 54 0 54 1.0 splicing rs812808 DOCK9 AU NM_001130048 exon1 c.1+3T>C 0.755591 0.7808 0.841535 0.8124 0.7775 Pathogenic 13_99448441_T->A 13 99448441 99448441 T A snp 764.77 0/1 99 55 22 33 0.6 intronic rs9554522 DOCK9 AU NM_001130048 exon2 c.1458-18T>A 0.414537 0.6171 0.407482 0.4842 0.6634 Uncertain 13_99448623_A->G 13 99448623 99448623 A G snp 1056.77 0/1 99 75 36 39 0.52 intronic rs9554524 DOCK9 AU NM_001130048 exon2 c.1466+156A>G 0.41893 0.6171 Uncertain 13_99449579_T->C 13 99449579 99449579 T C snp 7161.77 1/1 99 250 0 250 1.0 intronic rs1289314 DOCK9 AU NM_001130048 exon4 c.2641-63T>C 0.750399 0.7758 Uncertain 13_99449755_G->A 13 99449755 99449755 G A snp 1636.77 0/1 99 140 74 66 0.47 intronic rs1289315 DOCK9 AU NM_001130048 exon4 c.2742+12G>A 0.512181 0.5813 0.608393 0.5885 0.6002 Uncertain 13_99457431_T->G 13 99457431 99457431 T G snp 2292.77 0/1 99 181 75 106 0.59 exonic rs2296984 DOCK9 AU unknown 0.205871 0.1915 0.197740 0.2650 0.2466 1.000 P -0.617 T Uncertain 13_99457552_T->A 13 99457552 99457552 T A snp 351.77 0/1 99 36 23 13 0.36 intronic rs7990741 DOCK9 AU NM_001130048 exon6 c.10462+89T>A 0.378395 0.6171 Uncertain 13_99459891_A->C 13 99459891 99459891 A C snp 1218.77 0/1 99 95 43 52 0.55 intronic rs9557078 DOCK9 AU NM_001130048 exon7 c.12913-23A>C 0.430112 0.6766 0.399371 0.4233 0.6735 Uncertain 13_99461533_TTTTT->- 13 99461533 99461537 TTTTT - indel 486.73 0/1 99 30 22 8 0.27 intronic rs398024121 DOCK9 AU NM_001130048 exon9 c.14603-71_14603-67delTTTTT 0.329273 0.6181 0.5420 0.7116 Uncertain 13_99462593_C->T 13 99462593 99462593 C T snp 561.77 0/1 99 42 23 19 0.45 intronic rs2282134 DOCK9 AU NM_001130048 exon10 c.15544+48C>T 0.350839 0.6736 0.324422 0.3994 0.6704 Uncertain 13_99502260_G->A 13 99502260 99502260 G A snp 600.77 0/1 99 36 10 26 0.72 intronic rs2296990 DOCK9 AU NM_001130048 exon21 c.55299-40G>A 0.0882588 0.1905 0.031991 0.0868 0.2414 Uncertain 13_99505632_C->T 13 99505632 99505632 C T snp 1387.77 0/1 99 115 56 59 0.51 intronic rs9513497 DOCK9 AU NM_001130048 exon22 c.58660-29C>T 0.403554 0.249 0.484336 0.4709 0.2757 Uncertain 13_99532622_G->A 13 99532622 99532622 G A snp 924.77 1/1 69 24 0 24 1.0 intronic rs6491460 DOCK9 AU NM_001130048 exon31 c.85799-178G>A 0.683107 0.5268 Uncertain 13_99533897_G->A 13 99533897 99533897 G A snp 1507.77 0/1 99 118 57 61 0.52 intronic rs2296994 DOCK9 AU NM_001130048 exon32 c.86880+16G>A 0.150958 0.2034 0.106606 0.1950 0.2644 Uncertain 13_99534048_G->A 13 99534048 99534048 G A snp 1479.77 1/1 99 45 0 45 1.0 intronic rs6491461 DOCK9 AU NM_001130048 exon33 c.87144-97G>A 0.9998 1 Uncertain 13_99536031_G->A 13 99536031 99536031 G A snp 3432.77 1/1 99 130 0 130 1.0 intronic rs9517474 DOCK9 AU NM_001130048 exon35 c.89065-35G>A 0.678315 0.5258 0.723855 0.7658 0.5671 Uncertain 13_99536215_C->T 13 99536215 99536215 C T snp 994.77 1/1 72 30 0 30 1.0 intronic rs2296996 DOCK9 AU NM_001130048 exon35 c.89152+62C>T 0.626797 0.5248 Uncertain 13_99536220_A->G 13 99536220 99536220 A G snp 946.77 1/1 69 28 0 28 1.0 intronic rs2296997 DOCK9 AU NM_001130048 exon35 c.89152+67A>G 0.667532 0.5258 Uncertain 13_99536275_G->A 13 99536275 99536275 G A snp 182.9 1/1 15 5 0 5 1.0 intronic rs7320272 DOCK9 AU NM_001130048 exon35 c.89152+122G>A 0.961462 1 Uncertain 13_99537202_C->A 13 99537202 99537202 C A snp 1556.77 1/1 99 57 0 57 1.0 intronic rs2274641 DOCK9 AU NM_001130048 exon36 c.90223-22C>A 0.678714 0.5258 0.723594 0.7505 0.5247 Uncertain 13_99537217_G->T 13 99537217 99537217 G T snp 1809.77 1/1 99 63 0 63 1.0 intronic rs2274642 DOCK9 AU NM_001130048 exon36 c.90223-7G>T 0.672125 0.5258 0.728181 0.7464 0.5207 Uncertain 13_99537942_G->T 13 99537942 99537942 G T snp 1189.77 0/1 99 124 73 51 0.41 intronic rs2296998 DOCK9 AU NM_001130048 exon37 c.90960-19G>T 0.154353 0.2024 0.108776 0.1539 0.1990 Uncertain 13_99538711_C->G 13 99538711 99538711 C G snp 1734.77 1/1 99 56 0 56 1.0 intronic rs6491465 DOCK9 AU NM_001130048 exon38 c.91784-74C>G 0.961462 1 Uncertain 13_99538935_C->G 13 99538935 99538935 C G snp 907.77 0/1 99 103 64 39 0.38 intronic rs6491466 DOCK9 AU NM_001130048 exon38 c.91877+57C>G 0.463658 0.3214 Uncertain 13_99540394_T->C 13 99540394 99540394 T C snp 243.77 0/1 99 25 17 8 0.32 intronic rs3737021 DOCK9 AU NM_001130048 exon39 c.93410-17T>C 0.152556 0.2024 0.064711 0.2210 0.2893 Uncertain 13_99540395_A->G 13 99540395 99540395 A G snp 884.77 1/1 66 26 0 26 1.0 intronic rs1928104 DOCK9 AU NM_001130048 exon39 c.93410-16A>G 0.677516 0.5268 0.722024 0.7757 0.5958 Uncertain 13_99540406_A->C 13 99540406 99540406 A C snp 378.77 0/1 99 32 20 12 0.38 splicing rs3737023 DOCK9 AU NM_001130048 exon39 c.93410-5A>C 0.196486 0.2044 0.144059 0.2189 0.2296 Pathogenic 13_99540500_A->G 13 99540500 99540500 A G snp 1464.77 0/1 99 133 73 60 0.45 intronic rs2274643 DOCK9 AU NM_001130048 exon39 c.93476+23A>G 0.464457 0.3224 0.555781 0.5525 0.3439 Uncertain 13_99550351_T->A 13 99550351 99550351 T A snp 1421.77 0/1 99 117 55 62 0.53 intronic rs2296999 DOCK9 AU NM_001130048 exon43 c.103431-81T>A 0.196486 0.2044 Uncertain 13_99550697_C->G 13 99550697 99550697 C G snp 176.9 1/1 15 5 0 5 1.0 intronic rs2297000 DOCK9 AU NM_001130048 exon43 c.103514+182C>G 0.648163 0.4762 Uncertain 13_99555188_T->- 13 99555188 99555188 T - indel 966.73 1/1 98 34 0 34 1.0 intronic rs35240640 DOCK9 AU NM_001130048 exon46 c.108224-37delT 0.71865 0.5298 0.7786 0.6026 Uncertain 13_99566435_G->A 13 99566435 99566435 G A snp 68.77 0/1 97 9 6 3 0.33 intronic rs1886551 DOCK9 AU NM_001130048 exon48 c.119580-146G>A 0.5002 0.3224 Uncertain 13_99566730_C->T 13 99566730 99566730 C T snp 1226.77 0/1 99 128 76 52 0.41 intronic rs41279134 DOCK9 AU NM_001130048 exon48 c.119648+81C>T 0.155751 0.2024 Uncertain 13_99574524_C->T 13 99574524 99574524 C T snp 904.77 1/1 66 28 0 28 1.0 intronic rs7983462 DOCK9 AU NM_001130048 exon51 c.127399+124C>T 0.596046 0.4722 Uncertain 13_99575568_G->A 13 99575568 99575568 G A snp 1965.77 0/1 99 178 90 88 0.49 exonic rs12428661 DOCK9 AU unknown 0.167532 0.2063 0.138270 0.1813 0.2015 Uncertain 13_99575775_C->T 13 99575775 99575775 C T snp 305.77 0/1 99 25 13 12 0.48 intronic rs7989935 DOCK9 AU NM_001130048 exon52 c.128624+150C>T 0.416134 0.2659 Uncertain 13_99578219_C->T 13 99578219 99578219 C T snp 408.77 0/1 99 30 16 14 0.47 intronic rs12429249 DOCK9 AU NM_001130048 exon53 c.131172+46C>T 0.166534 0.2063 0.135756 0.1922 0.2150 Uncertain 13_99578265_T->C 13 99578265 99578265 T C snp 387.77 1/1 30 11 0 11 1.0 intronic rs7318788 DOCK9 AU NM_001130048 exon53 c.131172+92T>C 0.59984 0.4722 Uncertain 13_99582656_G->A 13 99582656 99582656 G A snp 83.77 0/1 30 4 1 3 0.75 intronic rs6491468 DOCK9 AU NM_001130048 exon54 c.135510+145G>A 0.421526 0.2639 Uncertain 13_99667982_T->C 13 99667982 99667982 T C snp 374.77 0/1 99 26 13 13 0.5 intronic rs4772168 DOCK9 AU NM_001130048 exon56 c.183337+37644T>C 0.737819 0.9048 Uncertain 13_99853443_T->G 13 99853443 99853443 T G snp 1826.77 1/1 99 64 0 64 1.0 intronic rs7338947 UBAC2 AU NM_001144072 exon1 c.31+250T>G 0.969449 1 0.9769 1 Uncertain 13_99947261_C->T 13 99947261 99947261 C T snp 2257.77 1/1 99 73 0 73 1.0 ncRNA_intronic rs2230341 MIR548AN AU 0.193291 0.3175 Uncertain 13_99966291_A->G 13 99966291 99966291 A G snp 2739.77 1/1 99 87 0 87 1.0 ncRNA_intronic rs9517681 MIR548AN AU 0.214856 0.3224 Uncertain 13_99970430_T->- 13 99970430 99970430 T - indel 2087.73 1/1 99 84 0 84 1.0 ncRNA_intronic rs398024137 MIR548AN AU 0.969249 1 Uncertain 13_100004108_G->A 13 100004108 100004108 G A snp 3342.77 1/1 99 122 0 122 1.0 ncRNA_exonic rs727263 FKSG29 AU 0.1877 0.3185 0.1832 0.3667 Uncertain 13_100020212_G->A 13 100020212 100020212 G A snp 1909.77 1/1 99 64 0 64 1.0 ncRNA_intronic rs7318947 MIR548AN AU 0.187899 0.3185 0.112761 0.1567 0.3179 Uncertain 13_100181915_A->G 13 100181915 100181915 A G snp 140.77 0/1 99 15 9 6 0.4 intronic rs4772217 TM9SF2 AU NM_004800 exon4 c.27988+67A>G 0.467452 0.6855 Uncertain 13_100199224_C->T 13 100199224 100199224 C T snp 1732.77 0/1 99 123 56 67 0.54 intronic rs3751373 TM9SF2 AU NM_004800 exon11 c.45378-14C>T 0.407548 0.2401 0.411656 0.3554 0.2491 Uncertain 13_100201640_A->G 13 100201640 100201640 A G snp 40.77 0/1 69 5 3 2 0.4 intronic rs3803255 TM9SF2 AU NM_004800 exon12 c.47616+164A>G 0.548123 0.7044 Uncertain 13_100517028_G->A 13 100517028 100517028 G A snp 3452.77 1/1 99 127 0 127 1.0 ncRNA_intronic rs12430038 LOC101927437 AU 0.151358 0.3581 0.042288 0.1285 0.3581 Uncertain 13_100517196_TG->- 13 100517196 100517197 TG - indel 5272.73 1/1 99 139 0 139 1.0 ncRNA_intronic rs3831038 LOC101927437 AU 0.227955 0.2419 0.5234 Uncertain 13_100518400_T->A 13 100518400 100518400 T A snp 222.84 1/1 18 6 0 6 1.0 ncRNA_intronic rs2390354 LOC101927437 AU 0.847244 0.9712 Uncertain 13_100518580_A->G 13 100518580 100518580 A G snp 2148.77 1/1 99 79 0 79 1.0 exonic rs3783185 CLYBL AU nonsynonymous SNV NM_206808 exon6 c.A721G p.I241V 0.82508 0.877 0.763032 0.7473 0.8739 0.16 T 1.000 P -1.045 T 0.102 T 0.437 T Pathogenic 13_100523386_T->C 13 100523386 100523386 T C snp 210.77 0/1 99 21 14 7 0.33 ncRNA_intronic rs3742254 LOC101927437 AU 0.409345 0.4454 Uncertain 13_100537221_T->C 13 100537221 100537221 T C snp 1781.77 0/1 99 217 134 83 0.38 ncRNA_intronic rs912283 LOC101927437 AU 0.822085 0.8502 0.860621 0.7569 0.8255 Uncertain 13_100537232_T->C 13 100537232 100537232 T C snp 1848.77 0/1 99 223 138 85 0.38 ncRNA_intronic rs912284 LOC101927437 AU 0.822684 0.8502 0.858795 0.7732 0.8228 0.09 T 0.0 P -1.062 T Uncertain 13_100537376_G->A 13 100537376 100537376 G A snp 828.77 0/1 99 88 49 39 0.44 ncRNA_intronic rs912285 LOC101927437 AU 0.822284 0.8502 0.855249 0.8108 0.8203 Uncertain 13_100623601_G->T 13 100623601 100623601 G T snp 635.77 0/1 99 57 27 30 0.53 exonic rs76337191 ZIC5 AU nonsynonymous SNV NM_033132 exon1 c.C329A p.A110E 0.0257588 0.0992 0.0492 0.3409 0.27 T 1.000 N -0.918 T 0.358 T 0.243 T Pathogenic 13_100635007_-->CCA 13 100635007 100635007 - CCA indel 4212.73 0/1 99 250 104 146 0.58 exonic rs372873355 ZIC2 AD nonframeshift insertion NM_007129 exon1 c.689_690insCCA p.A230delinsAH 0.0445288 0.0456 0.0348 0.0840 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000081473.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 13_100637102_T->C 13 100637102 100637102 T C snp 356.77 0/1 99 24 12 12 0.5 intronic rs9585308 ZIC2 AD NM_007129 exon2 c.2881-97T>C 0.409145 0.2907 Uncertain 13_100638392_G->A 13 100638392 100638392 G A snp 611.77 0/1 99 67 42 25 0.37 UTR3 rs13542 ZIC2 AD 0.310503 0.2669 Uncertain 13_100755335_A->T 13 100755335 100755335 A T snp 152.77 0/1 99 15 7 8 0.53 intronic rs76724409 PCCA AR NM_001178004 exon2 c.13840+121A>T 0.0105831 0.0506 Uncertain 13_100807416_-->A 13 100807416 100807416 - A indel 379.73 1/1 48 20 0 20 1.0 intronic rs3215976 PCCA AR NM_001178004 exon5 c.65972+70insA 0.459265 0.6399 Uncertain 13_100861813_-->AC 13 100861813 100861813 - AC indel 176.87 1/1 15 8 0 8 1.0 intronic rs34598548 PCCA AR NM_001178004 exon7 c.120343+96insAC 0.395168 0.5972 Uncertain 13_100920847_A->G 13 100920847 100920847 A G snp 528.77 0/1 99 42 21 21 0.5 intronic rs79631831 PCCA AR NM_001178004 exon11 c.179568-95A>G 0.0433307 0.0962 0.006283 0.0485 0.1754 Uncertain 13_100921056_A->G 13 100921056 100921056 A G snp 3245.77 1/1 99 110 0 110 1.0 intronic rs4306370 PCCA AR NM_001178004 exon11 c.179663+19A>G 0.915935 1 0.917500 0.9770 1 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000078551.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 13_100945533_G->A 13 100945533 100945533 G A snp 5551.77 1/1 99 203 0 203 1.0 intronic rs9300598 PCCA AR NM_001178004 exon13 c.212339-8180G>A 0.905751 1 0.9669 1 Uncertain 13_100945603_A->G 13 100945603 100945603 A G snp 1219.77 0/1 99 95 44 51 0.54 intronic rs8002928 PCCA AR NM_001178004 exon13 c.212339-8110A>G 0.477636 0.6587 Uncertain 13_101020695_A->G 13 101020695 101020695 A G snp 662.77 0/1 99 45 17 28 0.62 intronic rs9518061 PCCA AR NM_001178004 exon19 c.279351-30A>G 0.552716 0.4454 0.682300 0.6966 0.5252 Uncertain 13_101143782_A->G 13 101143782 101143782 A G snp 384.77 0/1 99 18 7 11 0.61 intronic rs4772295 PCCA AR NM_001127692 exon21 c.426306-23898A>G 0.450679 0.5942 Uncertain 13_101144031_A->G 13 101144031 101144031 A G snp 332.77 0/1 99 32 17 15 0.47 intronic rs4772296 PCCA AR NM_001127692 exon21 c.426306-23649A>G 0.450879 0.5942 Uncertain 13_101167935_G->C 13 101167935 101167935 G C snp 368.77 1/1 30 10 0 10 1.0 intronic rs837285 PCCA AR NM_001127692 exon21 c.426447+114G>C 0.799121 0.8363 Uncertain 13_101182148_A->G 13 101182148 101182148 A G snp 56.74 1/1 6 2 0 2 1.0 intronic rs857294 PCCA AR NM_001178004 exon23 c.440977-203A>G 0.719249 0.9256 Uncertain 13_101182212_GGTGG->- 13 101182212 101182216 GGTGG - indel 1013.73 1/1 42 14 0 14 1.0 intronic rs3059677 PCCA AR NM_001178004 exon23 c.440977-139_440977-135delGGTGG 0.634385 0.8284 Uncertain 13_101264909_ACACAC->- 13 101264909 101264914 ACACAC - indel 762.74 1/1 30 29 0 29 1.0 intronic rs145949805 TMTC4 AU NM_032813 exon3 c.7517+145_7517+150delACACAC Uncertain 13_101286924_T->C 13 101286924 101286924 T C snp 326.78 1/1 27 9 0 9 1.0 intronic rs1890861 TMTC4 AU NM_032813 exon8 c.29811-134T>C 0.851438 0.9931 Uncertain 13_101287365_T->C 13 101287365 101287365 T C snp 3302.77 1/1 99 110 1 109 0.99 exonic rs946838 TMTC4 AU synonymous SNV NM_001286453 exon8 c.A897G p.A299A 0.83766 0.9901 0.806551 0.8647 0.9903 Uncertain 13_101287404_G->A 13 101287404 101287404 G A snp 1447.77 1/1 99 43 0 43 1.0 exonic rs2297943 TMTC4 AU synonymous SNV NM_001286453 exon8 c.C858T p.P286P 0.265775 0.3343 0.254652 0.3435 0.4137 Uncertain 13_101288688_G->C 13 101288688 101288688 G C snp 43.77 0/1 72 4 2 2 0.5 intronic rs9518119 TMTC4 AU NM_032813 exon10 c.31538-97G>C 0.115415 0.1468 Uncertain 13_101289969_C->T 13 101289969 101289969 C T snp 2782.77 1/1 99 104 0 104 1.0 intronic rs3809372 TMTC4 AU NM_032813 exon11 c.32709+13C>T 0.272963 0.3472 0.260188 0.3151 0.3860 Uncertain 13_101289998_C->A 13 101289998 101289998 C A snp 2573.77 1/1 99 90 0 90 1.0 intronic rs7985718 TMTC4 AU NM_032813 exon11 c.32709+42C>A 0.685703 0.9831 0.588267 0.6709 0.9862 Uncertain 13_101315175_G->A 13 101315175 101315175 G A snp 427.77 1/1 33 12 0 12 1.0 intronic rs1283210 TMTC4 AU NM_032813 exon15 c.57970-42G>A 0.7502 0.9772 0.701221 0.7780 0.9869 Uncertain 13_101316313_C->T 13 101316313 101316313 C T snp 767.77 1/1 57 23 0 23 1.0 intronic rs1298168 TMTC4 AU NM_032813 exon16 c.59227-161C>T 0.737819 0.9494 Uncertain 13_101321067_T->C 13 101321067 101321067 T C snp 1905.77 1/1 99 65 0 65 1.0 intronic rs2791680 TMTC4 AU NM_032813 exon17 c.63801+19T>C 0.748602 0.9792 0.702170 0.7790 0.9876 Uncertain 13_101712426_G->T 13 101712426 101712426 G T snp 309.77 0/1 99 17 6 11 0.65 intronic rs2274085 NALCN AR,AD NM_052867 exon3 c.4673+107G>T 0.514177 0.5913 Uncertain 13_101726145_C->T 13 101726145 101726145 C T snp 144.77 0/1 99 12 7 5 0.42 intronic rs651737 NALCN AR,AD NM_052867 exon8 c.18383+116C>T 0.742612 0.622 Uncertain 13_101735026_T->A 13 101735026 101735026 T A snp 534.77 0/1 99 44 23 21 0.48 intronic rs12430032 NALCN AR,AD NM_052867 exon12 c.27513-133T>A 0.445088 0.5169 Uncertain 13_101735211_G->A 13 101735211 101735211 G A snp 1237.77 0/1 99 113 65 48 0.42 exonic rs17677552 NALCN AR,AD synonymous SNV NM_052867 exon33 c.C3714T p.T1238T 0.326078 0.506 0.275873 0.3513 0.4729 Uncertain 13_101736075_A->G 13 101736075 101736075 A G snp 1044.77 0/1 99 95 49 46 0.48 exonic rs686141 NALCN AR,AD synonymous SNV NM_052867 exon31 c.T3570C p.L1190L 0.724641 0.622 0.760956 0.6992 0.5981 Uncertain 13_101753023_-->TG 13 101753023 101753023 - TG indel 1867.73 0/1 99 67 29 38 0.57 intronic rs113145864 NALCN AR,AD NM_052867 exon18 c.45488-111insTG 0.672923 0.6508 Uncertain 13_101753026_T->- 13 101753026 101753026 T - indel 2687.73 1/1 99 68 0 68 1.0 intronic rs57703343 NALCN AR,AD NM_052867 exon18 c.45488-108delT 1 1 Uncertain 13_101755480_G->T 13 101755480 101755480 G T snp 702.77 0/1 99 74 45 29 0.39 intronic rs9300647 NALCN AR,AD NM_052867 exon19 c.47876-42G>T 0.544129 0.626 0.525373 0.5447 0.6083 Uncertain 13_101763582_-->A 13 101763582 101763582 - A indel 1509.73 1/1 60 68 4 64 0.94 splicing rs66537139 NALCN AR,AD NM_052867 exon26 c.55931+5insA 0.135184 0.38 0.051438 0.1088 0.3978 Pathogenic 13_101763706_G->A 13 101763706 101763706 G A snp 763.77 1/1 57 21 0 21 1.0 intronic rs10508053 NALCN AR,AD NM_052867 exon26 c.55931+129G>A 0.131989 0.4048 Uncertain 13_101769122_T->A 13 101769122 101769122 T A snp 222.84 1/1 18 6 0 6 1.0 intronic rs655966 NALCN AR,AD NM_052867 exon26 c.55931+5545T>A 0.72524 0.9196 Uncertain 13_101776869_C->A 13 101776869 101776869 C A snp 600.77 0/1 99 27 8 19 0.7 intronic rs117986283 NALCN AR,AD NM_052867 exon27 c.69312-89C>A 0.0181709 0.0119 Uncertain 13_101795244_C->A 13 101795244 101795244 C A snp 221.77 0/1 99 19 9 10 0.53 intronic rs146138824 NALCN AR,AD NM_052867 exon28 c.87784-186C>A 0.0185703 0.0109 0.0369 0.0261 Uncertain 13_101795317_A->C 13 101795317 101795317 A C snp 597.77 0/1 99 60 35 25 0.42 intronic rs673213 NALCN AR,AD NM_052867 exon28 c.87784-113A>C 0.520767 0.502 0.5183 0.5315 Uncertain 13_101795422_A->G 13 101795422 101795422 A G snp 1606.77 0/1 99 170 97 73 0.43 intronic rs661585 NALCN AR,AD NM_052867 exon28 c.87784-8A>G 0.521765 0.501 0.504998 0.4910 0.5095 Uncertain 13_101833837_C->G 13 101833837 101833837 C G snp 44.77 0/1 33 3 1 2 0.67 intronic rs72652920 NALCN AR,AD NM_052867 exon30 c.121079+5112C>G 0.10643 0.2054 Uncertain 13_101844246_-->A 13 101844246 101844246 - A indel 916.73 0/1 99 83 41 42 0.51 intronic rs398037859 NALCN AR,AD NM_052867 exon31 c.136621-21insA 0.309505 0.3889 0.251118 0.2809 0.3906 Uncertain 13_101844479_T->C 13 101844479 101844479 T C snp 763.77 0/1 99 41 14 27 0.66 intronic rs979680 NALCN AR,AD NM_052867 exon31 c.136759+74T>C 0.3123 0.3879 Uncertain 13_101890040_A->G 13 101890040 101890040 A G snp 479.77 1/1 36 15 0 15 1.0 intronic rs9518352 NALCN AR,AD NM_052867 exon33 c.182459-65A>G 0.692093 0.9355 Uncertain 13_101944205_A->C 13 101944205 101944205 A C snp 113.77 0/1 99 9 5 4 0.44 intronic rs554997 NALCN AR,AD NM_052867 exon36 c.236694-135A>C 0.354433 0.3869 Uncertain 13_101944752_C->T 13 101944752 101944752 C T snp 617.77 0/1 99 38 16 22 0.58 intronic rs570252 NALCN AR,AD NM_052867 exon37 c.237071+35C>T 0.585863 0.619 0.533369 0.5257 0.6028 Uncertain 13_102106276_G->C 13 102106276 102106276 G C snp 484.77 0/1 99 57 36 21 0.37 exonic rs2297700 ITGBL1 AU synonymous SNV NM_001271755 exon2 c.G141C p.S47S 0.273163 0.2202 0.4963 0.3214 Uncertain 13_102220193_G->T 13 102220193 102220193 G T snp 963.77 0/1 99 61 23 38 0.62 exonic rs1140605 ITGBL1 AU nonsynonymous SNV NM_001271754 exon2 c.G37T p.A13S 0.116014 0.125 0.088498 0.0698 0.1509 0.03 T 0.999 P -0.998 T 0.165 T 0.056 T Pathogenic 13_102344867_A->G 13 102344867 102344867 A G snp 1084.77 1/1 81 35 0 35 1.0 intronic rs981073 ITGBL1 AU NM_004791 exon8 c.239750-67A>G 0.839058 0.9732 Uncertain 13_102368056_G->T 13 102368056 102368056 G T snp 3215.74 1/1 99 123 0 123 1.0 UTR3 rs1436266 ITGBL1 AU 0.988419 1 0.987074 0.9966 0.9993 Uncertain 13_102619987_G->C 13 102619987 102619987 G C snp 263.77 0/1 99 28 15 13 0.46 downstream rs7993843 MIR2681 AU 0.257388 0.4871 0.625 . Uncertain 13_102620137_T->C 13 102620137 102620137 T C snp 422.77 0/1 99 37 17 20 0.54 upstream rs11069471 MIR2681 AU 0.274161 0.4841 0.75 . Uncertain 13_102698415_A->G 13 102698415 102698415 A G snp 1680.77 0/1 99 155 79 76 0.49 upstream rs7337292 MIR4705 AU 0.555711 0.7361 Uncertain 13_102698459_G->A 13 102698459 102698459 G A snp 1613.77 0/1 99 133 61 72 0.54 upstream rs667685 MIR4705 AU 0.642772 0.7361 Uncertain 13_103271206_G->A 13 103271206 103271206 G A snp 1483.77 0/1 99 110 45 65 0.59 intronic rs4576935 TPP2 AU NM_003291 exon5 c.21808+10G>A 0.472644 0.4474 0.521682 0.4495 0.4429 Uncertain 13_103275386_T->C 13 103275386 103275386 T C snp 1710.77 0/1 99 167 92 75 0.45 exonic rs2230854 TPP2 AU synonymous SNV NM_003291 exon6 c.T780C p.S260S 0.473642 0.4474 0.523528 0.4513 0.4436 Uncertain 13_103282279_A->C 13 103282279 103282279 A C snp 790.77 0/1 99 56 25 31 0.55 intronic rs660832 TPP2 AU NM_003291 exon10 c.33057-166A>C 0.473642 0.4474 Uncertain 13_103282299_C->G 13 103282299 103282299 C G snp 1080.77 0/1 99 74 33 41 0.55 intronic rs660811 TPP2 AU NM_003291 exon10 c.33057-146C>G 0.473642 0.4474 Uncertain 13_103289338_C->T 13 103289338 103289338 C T snp 279.77 0/1 91 14 3 11 0.79 intronic rs2274463 TPP2 AU NM_003291 exon14 c.40043-93C>T 0.473442 0.4474 Uncertain 13_103290535_G->C 13 103290535 103290535 G C snp 2114.77 0/1 99 167 80 87 0.52 intronic rs613926 TPP2 AU NM_003291 exon15 c.41200-53G>C 0.471446 0.4474 Uncertain 13_103290574_G->A 13 103290574 103290574 G A snp 2389.77 0/1 99 211 105 106 0.5 intronic rs614290 TPP2 AU NM_003291 exon15 c.41200-14G>A 0.473642 0.4474 0.522836 0.4494 0.4429 Uncertain 13_103292810_G->A 13 103292810 103292810 G A snp 1516.77 0/1 99 118 52 66 0.56 intronic rs634293 TPP2 AU NM_003291 exon16 c.43338+84G>A 0.473442 0.4474 Uncertain 13_103295485_-->T 13 103295485 103295485 - T indel 1087.73 0/1 99 47 17 30 0.64 intronic rs3831118 TPP2 AU NM_003291 exon17 c.46183-86insT 0.473442 0.4474 Uncertain 13_103295552_TTCT->- 13 103295552 103295555 TTCT - indel 4800.73 0/1 99 142 55 87 0.61 intronic rs144831383 TPP2 AU NM_003291 exon17 c.46183-19_46183-16delTTCT 0.473442 0.4474 0.523893 0.4606 0.4464 Uncertain 13_103297436_T->- 13 103297436 103297436 T - indel 868.73 0/1 99 105 37 68 0.65 intronic rs10713633 TPP2 AU NM_003291 exon19 c.47971+77delT 0.561302 0.5238 Uncertain 13_103301130_T->G 13 103301130 103301130 T G snp 99.28 1/1 9 3 0 3 1.0 intronic rs685874 TPP2 AU NM_003291 exon22 c.51868-126T>G 0.473442 0.4474 Uncertain 13_103301537_G->T 13 103301537 103301537 G T snp 653.77 0/1 99 70 41 29 0.41 intronic rs664660 TPP2 AU NM_003291 exon22 c.52113+36G>T 0.855831 0.7669 0.900277 0.8520 0.7820 Uncertain 13_103301619_-->T 13 103301619 103301619 - T indel 211.73 0/1 99 17 9 8 0.47 intronic rs3215841 TPP2 AU NM_003291 exon22 c.52113+118insT 0.473442 0.4474 Uncertain 13_103307218_C->T 13 103307218 103307218 C T snp 592.77 0/1 99 29 6 23 0.79 intronic rs673424 TPP2 AU NM_003291 exon24 c.60017-2187C>T 0.473243 0.4474 Uncertain 13_103307322_A->G 13 103307322 103307322 A G snp 1068.77 0/1 99 86 41 45 0.52 intronic rs677248 TPP2 AU NM_003291 exon24 c.60017-2083A>G 0.64357 0.5823 0.665445 0.5750 0.6049 Uncertain 13_103307360_G->A 13 103307360 103307360 G A snp 948.77 0/1 99 98 58 40 0.41 intronic rs677179 TPP2 AU NM_003291 exon24 c.60017-2045G>A 0.473442 0.4474 0.515701 0.4690 0.4703 Uncertain 13_103307483_G->A 13 103307483 103307483 G A snp 525.77 0/1 99 80 54 26 0.33 intronic rs672129 TPP2 AU NM_003291 exon24 c.60017-1922G>A 0.64357 0.5823 Uncertain 13_103315948_G->C 13 103315948 103315948 G C snp 378.77 0/1 99 21 9 12 0.57 intronic rs9585959 TPP2 AU NM_003291 exon25 c.66609-49G>C 0.506989 0.4474 0.566780 0.4912 0.4261 Uncertain 13_103316113_G->A 13 103316113 103316113 G A snp 855.77 0/1 99 59 23 36 0.61 intronic rs7334625 TPP2 AU NM_003291 exon25 c.66706+19G>A 0.473642 0.4474 0.522532 0.4696 0.4633 Uncertain 13_103326902_G->A 13 103326902 103326902 G A snp 309.77 0/1 99 18 7 11 0.61 intronic rs17691399 TPP2 AU NM_003291 exon27 c.77452+62G>A 0.0401358 0.127 Uncertain 13_103326950_G->A 13 103326950 103326950 G A snp 56.74 1/1 6 2 0 2 1.0 intronic rs674929 TPP2 AU NM_003291 exon27 c.77452+110G>A 0.473642 0.4474 Uncertain 13_103328619_C->A 13 103328619 103328619 C A snp 68.77 0/1 97 17 13 4 0.24 intronic rs584710 TPP2 AU NM_003291 exon28 c.79257-26C>A 0.473442 0.4474 0.495575 0.4561 0.4571 Uncertain 13_103330718_G->A 13 103330718 103330718 G A snp 459.77 0/1 99 40 19 21 0.53 UTR3 rs3806 TPP2 AU 0.474241 0.4494 0.527005 0.4500 0.4467 Uncertain 13_103339194_G->A 13 103339194 103339194 G A snp 67.77 0/1 96 13 9 4 0.31 intronic rs641652 METTL21C AU NM_001010977 exon2 c.909-95G>A 0.590855 0.5605 Uncertain 13_103339365_A->G 13 103339365 103339365 A G snp 2470.77 0/1 99 250 147 103 0.41 exonic rs660207 METTL21C AU synonymous SNV NM_001010977 exon3 c.T325C p.L109L 0.478435 0.4544 0.526296 0.4499 0.4567 Uncertain 13_103384824_G->A 13 103384824 103384824 G A snp 2090.77 1/1 99 74 0 74 1.0 exonic rs9300756 CCDC168 AU nonsynonymous SNV NM_001146197 exon4 c.C18223T p.R6075C 0.586661 0.8442 0.541192 0.5480 0.8360 0.18 T 0.0 P -1.110 T 0.0 T 0.0 T Pathogenic 13_103385015_A->G 13 103385015 103385015 A G snp 4912.77 1/1 99 171 0 171 1.0 exonic rs6491707 CCDC168 AU nonsynonymous SNV NM_001146197 exon4 c.T18032C p.L6011P 0.995807 1 0.997153 0.9988 1 0.13 T 0.0 P -1.065 T 0.0 T 0.0 T Pathogenic 13_103385299_A->C 13 103385299 103385299 A C snp 3212.77 1/1 99 113 0 113 1.0 exonic rs7335290 CCDC168 AU nonsynonymous SNV NM_001146197 exon4 c.T17748G p.F5916L 0.972843 1 0.974157 0.9904 1 0.61 T 0.0 P -1.064 T 0.0 T 0.0 T Pathogenic 13_103385798_T->C 13 103385798 103385798 T C snp 5797.77 1/1 99 196 0 196 1.0 exonic rs7983175 CCDC168 AU nonsynonymous SNV NM_001146197 exon4 c.A17249G p.N5750S 0.972843 1 0.974376 0.9905 1 1 T 0.0 P -0.985 T 0.0 T 0.0 T Pathogenic 13_103386116_C->G 13 103386116 103386116 C G snp 7443.77 1/1 99 250 0 250 1.0 exonic rs7982465 CCDC168 AU nonsynonymous SNV NM_001146197 exon4 c.G16931C p.R5644T 0.971246 1 0.973500 0.9901 1 0.27 T 0.0 P -1.069 T 0.05 T 0.031 T Pathogenic 13_103386283_A->G 13 103386283 103386283 A G snp 6493.77 1/1 99 228 0 228 1.0 exonic rs7982670 CCDC168 AU synonymous SNV NM_001146197 exon4 c.T16764C p.H5588H 0.971446 1 0.974157 0.9903 1 Uncertain 13_103388220_A->G 13 103388220 103388220 A G snp 3619.77 1/1 99 137 0 137 1.0 exonic rs9300758 CCDC168 AU nonsynonymous SNV NM_001146197 exon4 c.T14827C p.S4943P 0.991014 1 0.991459 0.9962 1 0.27 T 0.0 P -1.074 T 0.0 T 0.0 T Pathogenic 13_103391634_C->T 13 103391634 103391634 C T snp 3884.77 1/1 99 130 0 130 1.0 exonic rs7322112 CCDC168 AU nonsynonymous SNV NM_001146197 exon4 c.G11413A p.V3805I 0.699681 0.5913 0.729605 0.8008 0.6294 Pathogenic 13_103392562_C->A 13 103392562 103392562 C A snp 3801.77 1/1 99 128 0 128 1.0 exonic rs12585626 CCDC168 AU nonsynonymous SNV NM_001146197 exon4 c.G10485T p.M3495I 0.0740815 0.1052 0.055872 0.0428 0.0894 Pathogenic 13_103394003_G->A 13 103394003 103394003 G A snp 6625.77 1/1 99 238 0 238 1.0 exonic rs1449707 CCDC168 AU nonsynonymous SNV NM_001146197 exon4 c.C9044T p.T3015I 0.694089 0.5913 0.726556 0.7988 0.6278 Pathogenic 13_103394239_C->T 13 103394239 103394239 C T snp 4206.77 1/1 99 141 0 141 1.0 exonic rs16960471 CCDC168 AU synonymous SNV NM_001146197 exon4 c.G8808A p.P2936P 0.0694888 0.1052 0.049058 0.0410 0.0929 Uncertain 13_103394613_T->G 13 103394613 103394613 T G snp 4352.77 1/1 99 141 0 141 1.0 exonic rs9585986 CCDC168 AU nonsynonymous SNV NM_001146197 exon4 c.A8434C p.T2812P 0.694688 0.5913 0.727213 0.7987 0.6318 Pathogenic 13_103394716_T->C 13 103394716 103394716 T C snp 4576.77 1/1 99 165 0 165 1.0 exonic rs9585987 CCDC168 AU synonymous SNV NM_001146197 exon4 c.A8331G p.T2777T 0.694688 0.5913 0.726556 0.7994 0.6343 Uncertain 13_103395819_C->T 13 103395819 103395819 C T snp 3355.77 1/1 99 115 0 115 1.0 exonic rs1375720 CCDC168 AU nonsynonymous SNV NM_001146197 exon4 c.G7228A p.G2410R 0.997604 1 0.9988 1 Pathogenic 13_103396716_C->G 13 103396716 103396716 C G snp 2569.77 1/1 99 83 0 83 1.0 exonic rs6491708 CCDC168 AU nonsynonymous SNV NM_001146197 exon4 c.G6331C p.E2111Q 0.694688 0.5913 0.726775 0.7990 0.6306 Pathogenic 13_103397387_T->G 13 103397387 103397387 T G snp 6848.77 1/1 99 229 0 229 1.0 exonic rs7339187 CCDC168 AU nonsynonymous SNV NM_001146197 exon4 c.A5660C p.Q1887P 0.0656949 0.1042 0.046670 0.0391 0.0887 Pathogenic 13_103397583_C->G 13 103397583 103397583 C G snp 5917.77 1/1 99 201 0 201 1.0 exonic rs9582626 CCDC168 AU nonsynonymous SNV NM_001146197 exon4 c.G5464C p.A1822P 0.694688 0.5923 0.726675 0.7986 0.6306 Pathogenic 13_103400729_G->A 13 103400729 103400729 G A snp 6010.77 1/1 99 208 0 208 1.0 exonic rs12583104 CCDC168 AU nonsynonymous SNV NM_001146197 exon4 c.C2318T p.P773L 0.718251 0.5883 0.754601 0.8072 0.6302 Pathogenic 13_103402522_C->T 13 103402522 103402522 C T snp 6646.77 1/1 99 243 0 243 1.0 exonic rs9300760 CCDC168 AU synonymous SNV NM_001146197 exon4 c.G525A p.T175T 0.69349 0.5873 0.726456 0.7981 0.6286 Uncertain 13_103402772_T->C 13 103402772 103402772 T C snp 433.77 1/1 33 11 0 11 1.0 intronic rs9284197 CCDC168 AU NM_001146197 exon1 c.20938+34T>C 0.69389 0.5883 0.7771 0.6786 Uncertain 13_103410710_A->G 13 103410710 103410710 A G snp 760.77 1/1 57 22 0 22 1.0 intronic rs9585989 CCDC168 AU NM_001146197 exon2 c.28959-49A>G 0.293331 0.1815 0.3522 0.1879 Uncertain 13_103418728_A->G 13 103418728 103418728 A G snp 1576.77 1/1 99 44 0 44 1.0 UTR3 rs8054 TEX30 AU 0.334465 0.501 0.297401 0.2633 0.5345 Uncertain 13_103420671_-->A 13 103420671 103420671 - A indel 2134.73 1/1 99 73 0 73 1.0 intronic rs397806230 TEX30 AU NM_001286775 exon2 c.1775+10insA 0.33766 0.501 0.298174 0.2566 0.5316 Uncertain 13_103445609_-->T 13 103445609 103445609 - T indel 1532.73 1/1 99 37 0 37 1.0 intronic rs11441956 KDELC1 AU NM_024089 exon7 c.8846-81insT 0.998403 1 Uncertain 13_103449202_T->C 13 103449202 103449202 T C snp 1188.77 1/1 84 50 0 50 1.0 exonic rs1047740 KDELC1 AU nonsynonymous SNV NM_024089 exon2 c.A340G p.I114V 0.417532 0.4821 0.366523 0.2939 0.5216 1 T 0.004 P -0.937 T 0.0 T 0.001 T Pathogenic 13_103449375_A->G 13 103449375 103449375 A G snp 477.77 1/1 36 14 0 14 1.0 intronic rs12583419 KDELC1 AU NM_024089 exon9 c.12515+16A>G 0.0854633 0.1121 0.070967 0.0537 0.1015 Uncertain 13_103450973_T->C 13 103450973 103450973 T C snp 5698.77 1/1 99 204 0 204 1.0 exonic rs7994595 KDELC1 AU synonymous SNV NM_024089 exon1 c.A48G p.P16P 0.0854633 0.1121 0.071044 0.0537 0.1015 Uncertain 13_103451050_C->A 13 103451050 103451050 C A snp 2638.77 1/1 99 91 1 90 0.99 UTR5 rs7993350 KDELC1 AU 0.0854633 0.1121 0.070352 0.0553 0.1026 Uncertain 13_103451128_A->C 13 103451128 103451128 A C snp 347.78 1/1 27 9 0 9 1.0 UTR5 rs7993381 KDELC1 AU 0.0854633 0.1121 Uncertain 13_103474031_C->T 13 103474031 103474031 C T snp 2293.77 1/1 99 77 0 77 1.0 intronic rs2148449 BIVM AU NM_017693 exon6 c.14475-61C>T 0.965455 1 Uncertain 13_103484060_G->A 13 103484060 103484060 G A snp 2895.77 1/1 99 88 0 88 1.0 intronic rs2181676 BIVM AU NM_017693 exon8 c.24430+13G>A 0.906749 0.9722 0.909042 0.9714 0.9671 Uncertain 13_103484107_C->T 13 103484107 103484107 C T snp 813.77 1/1 63 25 0 25 1.0 intronic rs3825519 BIVM AU NM_017693 exon8 c.24430+60C>T 0.29353 0.1875 Uncertain 13_103491172_G->A 13 103491172 103491172 G A snp 1202.77 1/1 87 39 0 39 1.0 intronic rs2281886 BIVM AU NM_017693 exon10 c.31472+83G>A 0.607228 0.5853 Uncertain 13_103491223_C->G 13 103491223 103491223 C G snp 339.78 1/1 27 10 0 10 1.0 intronic rs7337774 BIVM AU NM_017693 exon10 c.31472+134C>G 0.913139 0.9722 Uncertain 13_103504517_T->C 13 103504517 103504517 T C snp 5729.77 1/1 99 210 1 209 1.0 exonic rs1047768 BIVM-ERCC5 AU synonymous SNV NM_000123 exon2 c.T138C p.H46H 0.493011 0.25 0.611795 0.5291 0.2660 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000116990.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 13_103506509_A->C 13 103506509 103506509 A C snp 1069.77 1/1 81 30 0 30 1.0 intronic rs1535729 BIVM-ERCC5 AU NM_001204425 exon12 c.47020-128A>C 0.997404 1 Uncertain 13_103510896_C->T 13 103510896 103510896 C T snp 461.77 1/1 36 13 0 13 1.0 intronic rs3736865 BIVM-ERCC5 AU NM_001204425 exon14 c.51151+128C>T 0.492412 0.25 Uncertain 13_103511301_T->C 13 103511301 103511301 T C snp 2972.77 1/1 99 112 0 112 1.0 intronic rs4150299 BIVM-ERCC5 AU NM_001204425 exon14 c.51151+533T>C 0.470248 0.249 0.5291 0.25 Uncertain 13_103514091_T->C 13 103514091 103514091 T C snp 1604.77 1/1 99 58 0 58 1.0 intronic rs7982448 BIVM-ERCC5 AU NM_001204425 exon15 c.54447+27T>C 0.998203 1 0.997693 0.9995 1 Uncertain 13_103518769_T->C 13 103518769 103518769 T C snp 1921.77 1/1 99 63 0 63 1.0 intronic rs6491716 BIVM-ERCC5 AU NM_001204425 exon18 c.59114+38T>C 0.998203 1 0.997463 0.9994 1 Uncertain 13_103524762_C->T 13 103524762 103524762 C T snp 2208.77 1/1 99 77 0 77 1.0 intronic rs4150360 BIVM-ERCC5 AU NM_001204425 exon21 c.65131+14C>T 0.317093 0.1895 0.434492 0.4513 0.2088 Uncertain 13_103527849_G->C 13 103527849 103527849 G C snp 6179.77 1/1 99 220 0 220 1.0 exonic rs9514066 BIVM-ERCC5 AU nonsynonymous SNV NM_000123 exon15 c.G3157C p.G1053R 0.998203 1 0.997463 0.9994 1 0.54 T 0.000 P -0.856 T 0.926 T 0.454 D CLINSIG=untested;CLNDBN=not_specified;CLNREVSTAT=no_assertion_provided;CLNACC=RCV000120845.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 13_103527930_G->C 13 103527930 103527930 G C snp 5835.77 1/1 99 204 0 204 1.0 exonic rs9514067 BIVM-ERCC5 AU nonsynonymous SNV NM_000123 exon15 c.G3238C p.G1080R 0.997204 1 0.997463 0.9993 1 0.54 T 0.0 P -1.004 T 0.0 T 0.0 T CLINSIG=untested;CLNDBN=not_specified;CLNREVSTAT=no_assertion_provided;CLNACC=RCV000120846.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 13_103528337_G->A 13 103528337 103528337 G A snp 589.77 1/1 45 18 0 18 1.0 UTR3 rs873601 BIVM-ERCC5 AU 0.549521 0.5248 Uncertain 13_103698630_C->T 13 103698630 103698630 C T snp 3331.77 1/1 99 99 0 99 1.0 intronic rs279940 SLC10A2 AR NM_000452 exon1 c.128+20C>T 0.841054 0.7272 0.890325 0.8623 0.7345 Uncertain 13_103703481_A->G 13 103703481 103703481 A G snp 523.77 1/1 39 15 0 15 1.0 intronic rs279938 SLC10A2 AR NM_000452 exon3 c.5124-125A>G 0.394768 0.3323 Uncertain 13_103705044_A->C 13 103705044 103705044 A C snp 5000.77 1/1 99 197 0 197 1.0 exonic rs188096 SLC10A2 AR nonsynonymous SNV NM_000452 exon3 c.T511G p.S171A 0.840256 0.7252 0.892434 0.8610 0.7302 1 T 0.001 P -0.952 T 0.0 T 0.002 T Pathogenic 13_106119446_G->A 13 106119446 106119446 G A snp 317.77 0/1 99 43 28 15 0.35 exonic rs2391191 DAOA AD nonsynonymous SNV NM_172370 exon2 c.G89A p.R30K 0.361821 0.626 0.293710 0.3898 0.6155 0.73 T 0.0 P -0.943 T 0.397 T 0.092 T CLINSIG=untested;CLNDBN=not_provided;CLNREVSTAT=no_assertion_provided;CLNACC=RCV000084735.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 ID=CM045704;DIS=Schizophrenia, association with;TAG=DP;PUB=15194506 DP Pathogenic 13_107145463_G->C 13 107145463 107145463 G C snp 4980.77 1/1 99 181 0 181 1.0 exonic rs7995379 EFNB2 AU synonymous SNV NM_004093 exon5 c.C927G p.G309G 1 1 0.999462 0.9999 1 Uncertain 13_107145787_G->A 13 107145787 107145787 G A snp 1952.77 0/1 99 138 60 78 0.57 intronic rs3742161 EFNB2 AU NM_004093 exon1 c.389+11G>A 0.0113818 0.0456 0.000154 0.0073 0.0474 Uncertain 13_107165255_C->G 13 107165255 107165255 C G snp 180.9 1/1 15 5 0 5 1.0 intronic rs9520090 EFNB2 AU NM_004093 exon4 c.19773+95C>G 0.434904 0.5843 Uncertain 13_107209378_T->C 13 107209378 107209378 T C snp 1165.77 0/1 99 100 47 53 0.53 intronic rs9587157 ARGLU1 AU NM_018011 exon2 c.13052-17T>C 0.347244 0.1746 0.338631 0.3209 0.1594 Uncertain 13_107862841_T->C 13 107862841 107862841 T C snp 599.77 1/1 45 17 0 17 1.0 intronic rs3751448 FAM155A AU NM_001080396 exon2 c.40087-90T>C 0.392372 0.5516 Uncertain 13_108183631_A->G 13 108183631 108183631 A G snp 309.77 0/1 99 22 6 16 0.73 intronic rs912446 FAM155A AU NM_001080396 exon2 c.40259+320528A>G 0.611821 0.6042 0.7007 0.6299 Uncertain 13_108861099_T->C 13 108861099 108861099 T C snp 3502.77 0/1 99 250 126 124 0.5 exonic rs200369995 LIG4 AU,AO nonsynonymous SNV NM_002312 exon2 c.A2518G p.I840V 0.000399361 0.002 0.0003 0.0045 0.48 T 1 N -1.007 T 0.0 T 0.002 T Pathogenic 13_108861645_T->C 13 108861645 108861645 T C snp 2519.77 0/1 99 166 67 99 0.6 exonic rs2232641 LIG4 AU,AO nonsynonymous SNV NM_002312 exon2 c.A1972G p.I658V 0.00459265 0.0228 0.000077 0.0017 0.0184 0.45 T 1.000 N -1.097 T 0.0 T 0.002 T ID=CM058423;DIS=Squamous cell carcinoma, association with;TAG=DP;PUB=15609317 DP Pathogenic 13_108922643_C->G 13 108922643 108922643 C G snp 1274.77 0/1 99 104 50 54 0.52 intronic rs56124946 TNFSF13B AU NM_001145645 exon2 c.444-44C>G 0.0694888 0.1389 0.014147 0.0474 0.1493 Uncertain 13_108955464_C->G 13 108955464 108955464 C G snp 182.9 1/1 15 6 0 6 1.0 intronic rs1224145 TNFSF13B AU NM_001145645 exon3 c.33357-136C>G 0.798922 0.9216 Uncertain 13_108959080_-->T 13 108959080 108959080 - T indel 209.74 1/1 27 9 0 9 1.0 intronic rs11381410 TNFSF13B AU NM_001145645 exon5 c.36930-93insT 0.677316 0.6716 Uncertain 13_109380076_T->C 13 109380076 109380076 T C snp 77.77 0/1 69 5 2 3 0.6 intronic rs9555500 MYO16 AU NM_001198950 exon4 c.97739+145T>C 0.0788738 0.2034 Uncertain 13_109438084_T->A 13 109438084 109438084 T A snp 680.77 0/1 99 67 34 33 0.49 exonic rs911973 MYO16 AU nonsynonymous SNV NM_001198950 exon5 c.T609A p.D203E 0.0832668 0.2212 0.023528 0.0536 0.2320 1.000 P -1.034 T 0.025 T 0.028 T Pathogenic 13_109445665_A->G 13 109445665 109445665 A G snp 64.77 0/1 93 8 5 3 0.38 intronic rs12584005 MYO16 AU NM_001198950 exon6 c.163671-198A>G 0.0832668 0.2212 Uncertain 13_109458889_A->G 13 109458889 109458889 A G snp 40.77 0/1 33 3 1 2 0.67 intronic rs9514920 MYO16 AU NM_001198950 exon7 c.176834-137A>G 0.451877 0.6429 Uncertain 13_109459020_G->A 13 109459020 109459020 G A snp 587.77 0/1 99 61 34 27 0.44 intronic rs9301323 MYO16 AU NM_001198950 exon7 c.176834-6G>A 0.642971 0.7857 0.606412 0.7168 0.7784 Uncertain 13_109472601_G->C 13 109472601 109472601 G C snp 809.77 1/1 60 28 0 28 1.0 intronic rs2146327 MYO16 AU NM_001198950 exon8 c.190492-83G>C 0.858427 0.9901 Uncertain 13_109472849_A->G 13 109472849 109472849 A G snp 1751.77 1/1 99 55 0 55 1.0 intronic rs9521065 MYO16 AU NM_001198950 exon8 c.190568+89A>G 0.823083 0.9881 Uncertain 13_109472886_A->G 13 109472886 109472886 A G snp 536.77 0/1 99 30 11 19 0.63 intronic rs7994148 MYO16 AU NM_001198950 exon8 c.190568+126A>G 0.376797 0.7857 Uncertain 13_109472933_T->C 13 109472933 109472933 T C snp 74.77 0/1 99 9 5 4 0.44 intronic rs9514924 MYO16 AU NM_001198950 exon8 c.190568+173T>C 0.422125 0.2024 Uncertain 13_109496601_C->T 13 109496601 109496601 C T snp 579.77 0/1 99 38 19 19 0.5 intronic rs7989143 MYO16 AU NM_001198950 exon10 c.214498-89C>T 0.495807 0.7877 Uncertain 13_109496928_C->T 13 109496928 109496928 C T snp 495.77 0/1 99 43 26 17 0.4 intronic rs7989802 MYO16 AU NM_001198950 exon10 c.214649+87C>T 0.586262 0.3105 Uncertain 13_109508011_A->C 13 109508011 109508011 A C snp 587.77 0/1 99 51 28 23 0.45 intronic rs423376 MYO16 AU NM_001198950 exon11 c.225709+110A>C 0.34405 0.4315 Uncertain 13_109550537_G->A 13 109550537 109550537 G A snp 1538.77 0/1 99 141 80 61 0.43 intronic rs141581521 MYO16 AU NM_001198950 exon15 c.268289+56G>A 0.00419329 0.002 Uncertain 13_109562621_T->A 13 109562621 109562621 T A snp 135.03 1/1 12 4 0 4 1.0 intronic rs2195734 MYO16 AU NM_001198950 exon16 c.280306+123T>A 0.45607 0.2808 Uncertain 13_109609951_G->A 13 109609951 109609951 G A snp 947.77 0/1 99 87 42 45 0.52 intronic rs9559450 MYO16 AU NM_001198950 exon17 c.327843-84G>A 0.0726837 0.1746 Uncertain 13_109661359_C->G 13 109661359 109661359 C G snp 1900.77 0/1 99 167 81 86 0.51 exonic rs3825491 MYO16 AU nonsynonymous SNV NM_001198950 exon22 c.C2557G p.P853A 0.453474 0.6627 0.363448 0.4310 0.6604 1.000 P -0.878 T 0.97 D 0.785 D Pathogenic 13_109671976_A->G 13 109671976 109671976 A G snp 50.74 1/1 6 2 0 2 1.0 intronic rs56278675 MYO16 AU NM_001198950 exon23 c.389866-82A>G 0.102436 0.2044 Uncertain 13_109717928_A->G 13 109717928 109717928 A G snp 1489.77 0/1 99 143 85 58 0.41 intronic rs1431267 MYO16 AU NM_001198950 exon27 c.425751+9985A>G 0.751398 0.8978 0.708580 0.7407 0.8934 0.0 P Uncertain 13_109777331_G->T 13 109777331 109777331 G T snp 119.77 0/1 95 7 3 4 0.57 intronic rs157023 MYO16 AU NM_001198950 exon30 c.495267-128G>T 0.777556 0.7262 Uncertain 13_109779906_C->T 13 109779906 109779906 C T snp 2368.77 1/1 99 84 0 84 1.0 intronic rs3815983 MYO16 AU NM_001198950 exon31 c.497706+8C>T 0.319489 0.376 0.302079 0.3679 0.3749 Uncertain 13_109793474_T->C 13 109793474 109793474 T C snp 2592.77 1/1 99 106 0 106 1.0 exonic rs28705148 MYO16 AU synonymous SNV NM_001198950 exon32 c.T4914C p.V1638V 0.968051 1 0.970108 0.9917 1 Uncertain 13_109793720_A->C 13 109793720 109793720 A C snp 4561.77 1/1 99 170 0 170 1.0 exonic rs7986595 MYO16 AU synonymous SNV NM_001198950 exon32 c.A5160C p.A1720A 0.95008 0.999 0.942666 0.9838 1 Uncertain 13_109831849_G->C 13 109831849 109831849 G C snp 1393.77 0/1 99 100 47 53 0.53 intronic rs2038707 MYO16 AU NM_001198950 exon34 c.549697-40G>C 0.160543 0.2768 0.130940 0.1757 0.2842 Uncertain 13_109832084_G->A 13 109832084 109832084 G A snp 802.77 0/1 99 63 34 29 0.46 intronic rs1033870 MYO16 AU NM_001198950 exon34 c.549789+103G>A 0.466653 0.2817 Uncertain 13_110408608_C->T 13 110408608 110408608 C T snp 831.77 0/1 99 86 50 36 0.42 UTR3 rs1865434 IRS2 AD 0.822484 0.7788 0.841919 0.8507 0.7801 Uncertain 13_110435914_G->A 13 110435914 110435914 G A snp 2015.77 0/1 99 129 48 81 0.63 exonic rs12853546 IRS2 AD synonymous SNV NM_003749 exon1 c.C2487T p.P829P 0.22504 0.2173 0.207765 0.3112 0.3166 Uncertain 13_110807474_T->C 13 110807474 110807474 T C snp 2322.77 1/1 99 68 0 68 1.0 intronic rs615742 COL4A1 AU,AD NM_001845 exon3 c.4920-155T>C 0.89377 0.9534 Uncertain 13_110807496_T->C 13 110807496 110807496 T C snp 3409.77 1/1 99 109 0 109 1.0 intronic rs616089 COL4A1 AU,AD NM_001845 exon3 c.4920-133T>C 0.894169 0.9554 Uncertain 13_110807570_C->G 13 110807570 110807570 C G snp 6105.77 1/1 99 224 0 224 1.0 intronic rs2275841 COL4A1 AU,AD NM_001845 exon3 c.4920-59C>G 0.0732827 0.2163 Uncertain 13_110813523_C->T 13 110813523 110813523 C T snp 309.77 0/1 99 30 15 15 0.5 intronic rs2275842 COL4A1 AU,AD NM_001845 exon4 c.10829-15C>T 0.192492 0.3323 0.146855 0.1643 0.3042 Uncertain 13_110813532_G->A 13 110813532 110813532 G A snp 342.77 0/1 99 34 18 16 0.47 intronic rs2275843 COL4A1 AU,AD NM_001845 exon4 c.10829-6G>A 0.192891 0.3333 0.146778 0.1643 0.3049 Uncertain 13_110817171_G->C 13 110817171 110817171 G C snp 966.77 1/1 72 34 0 34 1.0 intronic rs1816884 COL4A1 AU,AD NM_001845 exon7 c.14499-37G>C 0.404553 0.7252 0.316187 0.4020 0.7288 Uncertain 13_110818598_T->G 13 110818598 110818598 T G snp 2003.77 0/1 99 195 109 86 0.44 exonic rs3742207 COL4A1 AU,AD nonsynonymous SNV NM_001845 exon45 c.A4002C p.Q1334H 0.288339 0.2629 0.321236 0.3098 0.25 0.17 T 1.000 P -1.098 T 0.264 T 0.253 T ID=CM083606;DIS=Myocardial infarction, protection, association with;TAG=DP;PUB=18077766 DP Pathogenic 13_110819457_A->G 13 110819457 110819457 A G snp 223.77 0/1 99 38 26 12 0.32 intronic rs652572 COL4A1 AU,AD NM_001845 exon9 c.16795-47A>G 0.587061 0.6687 0.573274 0.6434 0.6557 Uncertain 13_110819460_G->A 13 110819460 110819460 G A snp 223.77 0/1 99 39 28 11 0.28 intronic rs1778817 COL4A1 AU,AD NM_001845 exon9 c.16795-44G>A 0.626997 0.6677 0.609795 0.6534 0.6551 Uncertain 13_110819586_G->A 13 110819586 110819586 G A snp 1102.77 0/1 99 119 70 49 0.41 intronic rs589985 COL4A1 AU,AD NM_001845 exon9 c.16868+9G>A 0.655351 0.6617 0.626788 0.6728 0.6557 Uncertain 13_110821844_-->AC 13 110821844 110821844 - AC indel 1459.73 ./1 99 31 1 30 0.97 intronic rs3832901 COL4A1 AU,AD NM_001845 exon10 c.19266-131insAC Uncertain 13_110821844_-->ACACACAC 13 110821844 110821844 - ACACACAC indel 1459.73 ./1 99 31 1 30 0.97 intronic COL4A1 AU,AD NM_001845 exon10 c.19266-131insACACACAC Uncertain 13_110823218_A->G 13 110823218 110823218 A G snp 331.77 0/1 99 22 12 10 0.45 intronic rs139777013 COL4A1 AU,AD NM_001845 exon11 c.20370+139A>G 0.00319489 0.0159 Uncertain 13_110839550_T->G 13 110839550 110839550 T G snp 2710.77 1/1 99 102 0 102 1.0 exonic rs536174 COL4A1 AU,AD nonsynonymous SNV NM_001845 exon25 c.A1663C p.T555P 1 1 1 1 1 T 1.0 P -0.915 T 0.0 T 0.0 T Pathogenic 13_110843985_T->C 13 110843985 110843985 T C snp 1998.77 1/1 99 71 0 71 1.0 intronic rs1373744 COL4A1 AU,AD NM_001303110 exon1 c.24-11T>C 0.916134 0.9643 0.9899 0.8939 Uncertain 13_110844188_G->A 13 110844188 110844188 G A snp 312.77 0/1 99 30 17 13 0.43 intronic rs7330851 COL4A1 AU,AD NM_001303110 exon1 c.24+192G>A 0.1875 0.0694 Uncertain 13_110844721_C->T 13 110844721 110844721 C T snp 564.77 0/1 99 73 47 26 0.36 intronic rs2241967 COL4A1 AU,AD NM_001845 exon29 c.41922+90C>T 0.431709 0.497 Uncertain 13_110845043_A->G 13 110845043 110845043 A G snp 78.77 0/1 67 5 2 3 0.6 intronic rs490727 COL4A1 AU,AD NM_001845 exon30 c.42467-133A>G 0.732428 0.9226 Uncertain 13_110845060_G->A 13 110845060 110845060 G A snp 65.77 0/1 94 9 6 3 0.33 intronic rs9521642 COL4A1 AU,AD NM_001845 exon30 c.42467-116G>A 0.172125 0.0734 Uncertain 13_110845314_G->A 13 110845314 110845314 G A snp 588.77 0/1 99 84 53 31 0.37 intronic rs685884 COL4A1 AU,AD NM_001845 exon30 c.42551+54G>A 0.753994 0.9216 0.706527 Uncertain 13_110847227_G->T 13 110847227 110847227 G T snp 343.78 1/1 27 11 0 11 1.0 intronic rs505050 COL4A1 AU,AD NM_001845 exon31 c.44660-142G>T 0.71845 0.624 Uncertain 13_110850770_T->C 13 110850770 110850770 T C snp 678.77 1/1 51 20 0 20 1.0 intronic rs683309 COL4A1 AU,AD NM_001845 exon32 c.48104-43T>C 0.901358 0.9931 0.867473 0.8874 0.9964 Uncertain 13_110851014_G->C 13 110851014 110851014 G C snp 1588.77 0/1 99 130 58 72 0.55 intronic rs496916 COL4A1 AU,AD NM_001845 exon32 c.48269+36G>C 0.388578 0.497 0.340434 0.3649 0.4762 Uncertain 13_110856085_A->G 13 110856085 110856085 A G snp 721.77 1/1 54 24 0 24 1.0 intronic rs648263 COL4A1 AU,AD NM_001845 exon35 c.53245+131A>G 0.592652 0.7698 Uncertain 13_110857823_C->T 13 110857823 110857823 C T snp 3537.77 1/1 99 142 0 142 1.0 intronic rs482757 COL4A1 AU,AD NM_001845 exon37 c.55131-17C>T 0.59345 0.7708 0.568584 0.6193 0.7659 Uncertain 13_110857895_A->G 13 110857895 110857895 A G snp 2858.77 1/1 99 102 0 102 1.0 intronic rs677877 COL4A1 AU,AD NM_001845 exon37 c.55176+10A>G 0.596446 0.7708 0.570121 0.6222 0.7664 Uncertain 13_110859690_A->G 13 110859690 110859690 A G snp 3083.77 1/1 99 105 0 105 1.0 intronic rs598819 COL4A1 AU,AD NM_001845 exon40 c.57040-59A>G 0.981829 1 Uncertain 13_110859743_C->T 13 110859743 110859743 C T snp 5310.77 1/1 99 205 1 204 1.0 intronic rs598893 COL4A1 AU,AD NM_001845 exon40 c.57040-6C>T 0.596046 0.7698 0.568661 0.6210 0.7616 Uncertain 13_110861785_C->G 13 110861785 110861785 C G snp 989.77 0/1 99 96 51 45 0.47 intronic rs645114 COL4A1 AU,AD NM_001845 exon42 c.59065+11C>G 0.861222 0.7867 0.850077 0.8452 0.7499 Uncertain 13_110864225_A->T 13 110864225 110864225 A T snp 686.77 0/1 99 81 50 31 0.38 exonic rs532625 COL4A1 AU,AD synonymous SNV NM_001845 exon7 c.T432A p.A144A 0.472843 0.5407 0.439566 0.4672 0.5009 Uncertain 13_110864396_T->C 13 110864396 110864396 T C snp 447.77 0/1 99 43 23 20 0.47 intronic rs626444 COL4A1 AU,AD NM_001845 exon46 c.61560+127T>C 0.566693 0.6141 Uncertain 13_110866065_C->T 13 110866065 110866065 C T snp 592.77 0/1 99 25 8 17 0.68 intronic rs3737328 COL4A1 AU,AD NM_001845 exon49 c.63419-63C>T 0.226438 0.2897 0.231494 Uncertain 13_110866265_G->A 13 110866265 110866265 G A snp 2300.77 0/1 99 145 58 87 0.6 intronic rs9521650 COL4A1 AU,AD NM_001845 exon50 c.63563-7G>A 0.130391 0.2143 0.133938 0.1429 0.2514 Uncertain 13_110959356_C->G 13 110959356 110959356 C G snp 590.77 1/1 42 25 0 25 1.0 exonic rs9515185 COL4A1 AU,AD nonsynonymous SNV NM_001845 exon1 c.G19C p.V7L 0.424121 0.6161 0.4824 0.6212 0.74 T 1.000 P -0.967 T 0.001 T 0.001 T Pathogenic 13_111077197_G->A 13 111077197 111077197 G A snp 4088.77 1/1 99 137 0 137 1.0 exonic rs4238272 COL4A2 AU,AD synonymous SNV NM_001846 exon5 c.G297A p.T99T 0.942692 1 0.932706 0.9614 0.9999 Uncertain 13_111077401_T->- 13 111077401 111077401 T - indel 3188.01 1/1 99 87 0 87 1.0 intronic rs58151684 COL4A2 AU,AD NM_001846 exon6 c.117094+57delT 0.854633 0.9474 0.833275 Uncertain 13_111077450_G->A 13 111077450 111077450 G A snp 1147.77 1/1 59 34 1 33 0.97 intronic rs7326522 COL4A2 AU,AD NM_001846 exon6 c.117094+106G>A 0.870607 0.9474 Uncertain 13_111080964_C->T 13 111080964 111080964 C T snp 208.77 0/1 99 35 24 11 0.31 intronic rs372886526 COL4A2 AU,AD NM_001846 exon7 c.120680+34C>T 0.00559105 0.001497 0.0029 0 Uncertain 13_111082157_C->A 13 111082157 111082157 C A snp 1078.77 1/1 78 39 0 39 1.0 intronic rs3929758 COL4A2 AU,AD NM_001846 exon8 c.121981-74C>A 0.735823 0.6081 Uncertain 13_111091157_-->CTCCACA 13 111091157 111091157 - CTCCACA indel 823.74 1/1 30 13 0 13 1.0 intronic rs372770020 COL4A2 AU,AD NM_001846 exon15 c.130765+142insCTCCACA Uncertain 13_111091995_T->G 13 111091995 111091995 T G snp 729.77 1/1 57 20 0 20 1.0 intronic rs7991229 COL4A2 AU,AD NM_001846 exon16 c.131885-140T>G 0.287141 0.1419 Uncertain 13_111098110_C->T 13 111098110 111098110 C T snp 3312.77 1/1 99 122 0 122 1.0 intronic rs7489705 COL4A2 AU,AD NM_001846 exon17 c.137925-65C>T 0.795527 0.6706 0.852168 Uncertain 13_111098226_C->T 13 111098226 111098226 C T snp 3210.76 1/1 99 118 0 118 1.0 exonic rs4103 COL4A2 AU,AD synonymous SNV NM_001846 exon17 c.C1008T p.P336P 0.482827 0.5625 0.489872 0.5137 0.5242 Uncertain 13_111098338_A->T 13 111098338 111098338 A T snp 303.78 1/1 24 9 0 9 1.0 intronic rs7988186 COL4A2 AU,AD NM_001846 exon17 c.137979+109A>T 0.991214 1 Uncertain 13_111099057_G->A 13 111099057 111099057 G A snp 633.77 1/1 48 23 0 23 1.0 intronic rs45612833 COL4A2 AU,AD NM_001846 exon18 c.138894-87G>A 0.692093 0.625 Uncertain 13_111099122_G->A 13 111099122 111099122 G A snp 1512.77 1/1 99 56 0 56 1.0 intronic rs7326449 COL4A2 AU,AD NM_001846 exon18 c.138894-22G>A 0.688898 0.624 0.768855 0.7486 0.5934 Uncertain 13_111099338_-->A 13 111099338 111099338 - A indel 175.77 1/1 21 8 0 8 1.0 intronic rs140384701 COL4A2 AU,AD NM_001846 exon18 c.138961+127insA Uncertain 13_111101931_C->T 13 111101931 111101931 C T snp 177.77 0/1 99 21 13 8 0.38 intronic rs56676181 COL4A2 AU,AD NM_001846 exon19 c.141775-94C>T 0.239217 0.2718 Uncertain 13_111101952_A->G 13 111101952 111101952 A G snp 359.77 0/1 99 35 20 15 0.43 intronic rs75082326 COL4A2 AU,AD NM_001846 exon19 c.141775-73A>G 0.23103 0.2718 Uncertain 13_111102042_G->A 13 111102042 111102042 G A snp 1037.77 0/1 99 82 32 50 0.61 exonic rs76425569 COL4A2 AU,AD synonymous SNV NM_001846 exon19 c.G1095A p.P365P 0.238618 0.2718 0.262849 0.3144 0.2566 Uncertain 13_111102126_C->T 13 111102126 111102126 C T snp 1122.77 0/1 99 82 33 49 0.6 exonic rs74941798 COL4A2 AU,AD synonymous SNV NM_001846 exon19 c.C1179T p.I393I 0.246805 0.2679 0.284764 0.3382 0.2610 Uncertain 13_111102183_A->G 13 111102183 111102183 A G snp 1513.77 1/1 99 51 0 51 1.0 intronic rs34734302 COL4A2 AU,AD NM_001846 exon19 c.141886+47A>G 0.422524 0.3185 0.429910 0.4680 0.2864 Uncertain 13_111109157_G->A 13 111109157 111109157 G A snp 217.77 0/1 99 24 15 9 0.38 intronic rs28502737 COL4A2 AU,AD NM_001846 exon21 c.149439-532G>A 0.480631 0.2232 0.5433 0.25 Uncertain 13_111109576_G->C 13 111109576 111109576 G C snp 272.77 0/1 99 35 22 13 0.37 intronic rs9521780 COL4A2 AU,AD NM_001846 exon21 c.149439-113G>C 0.0022 0 0.31 T 0.0 P -0.988 T Uncertain 13_111109618_G->C 13 111109618 111109618 G C snp 1119.77 0/1 99 103 51 52 0.5 intronic rs9515216 COL4A2 AU,AD NM_001846 exon21 c.149439-71G>C 0.0074 0 0.4 T 0.0 P -0.935 T Uncertain 13_111109859_A->G 13 111109859 111109859 A G snp 1060.77 0/1 99 152 103 49 0.32 intronic rs9515218 COL4A2 AU,AD NM_001846 exon21 c.149532+77A>G 0.489617 0.2232 0.5764 0.2961 Uncertain 13_111109882_A->G 13 111109882 111109882 A G snp 1270.77 0/1 99 157 99 58 0.37 intronic rs9555703 COL4A2 AU,AD NM_001846 exon21 c.149532+100A>G 0.169529 0.0923 0.2799 0.1163 0.09 T 0.0 P -1.019 T Uncertain 13_111109960_T->C 13 111109960 111109960 T C snp 1484.77 0/1 99 173 104 69 0.4 intronic rs9515219 COL4A2 AU,AD NM_001846 exon21 c.149532+178T>C 0.490016 0.2232 0.5438 0.2490 Uncertain 13_111110303_T->C 13 111110303 111110303 T C snp 420.77 0/1 99 22 8 14 0.64 intronic rs7319009 COL4A2 AU,AD NM_001846 exon21 c.149532+521T>C 0.489816 0.2232 Uncertain 13_111110418_G->C 13 111110418 111110418 G C snp 2742.77 0/1 99 215 96 119 0.55 intronic rs7325055 COL4A2 AU,AD NM_001846 exon21 c.149532+636G>C 0.489816 0.2232 0.5675 0.2469 Uncertain 13_111110666_T->C 13 111110666 111110666 T C snp 143.77 0/1 99 11 6 5 0.45 intronic rs7326779 COL4A2 AU,AD NM_001846 exon22 c.150867-451T>C 0.489816 0.2232 0.5543 0.2320 Uncertain 13_111110674_C->G 13 111110674 111110674 C G snp 34.77 0/1 63 7 5 2 0.29 intronic rs7325334 COL4A2 AU,AD NM_001846 exon22 c.150867-443C>G 0.482029 0.2232 0.5467 0.23 Uncertain 13_111111023_T->C 13 111111023 111111023 T C snp 468.77 0/1 99 35 19 16 0.46 intronic rs9521781 COL4A2 AU,AD NM_001846 exon22 c.150867-94T>C 0.491014 0.2232 Uncertain 13_111111043_G->A 13 111111043 111111043 G A snp 802.77 0/1 99 62 34 28 0.45 intronic rs9521782 COL4A2 AU,AD NM_001846 exon22 c.150867-74G>A 0.490216 0.2232 Uncertain 13_111111173_G->A 13 111111173 111111173 G A snp 2262.77 0/1 99 216 115 101 0.47 exonic rs7990214 COL4A2 AU,AD synonymous SNV NM_001846 exon22 c.G1488A p.P496P 0.491414 0.2232 0.620965 0.5288 0.2260 Uncertain 13_111111235_G->A 13 111111235 111111235 G A snp 1641.77 0/1 99 131 63 68 0.52 exonic rs7990383 COL4A2 AU,AD nonsynonymous SNV NM_001846 exon22 c.G1550A p.R517K 0.509185 0.2232 0.634584 0.5390 0.2315 1 T 0.0 P -0.940 T 0.0 T 0.001 T Pathogenic 13_111114751_G->A 13 111114751 111114751 G A snp 206.77 0/1 99 29 20 9 0.31 intronic rs7992330 COL4A2 AU,AD NM_001846 exon24 c.154481+20G>A 0.169129 0.0923 0.238305 0.2418 0.0893 Uncertain 13_111115467_G->A 13 111115467 111115467 G A snp 1330.77 0/1 99 98 47 51 0.52 intronic rs9521786 COL4A2 AU,AD NM_001846 exon24 c.154481+736G>A 0.510583 0.3006 Uncertain 13_111115480_C->T 13 111115480 111115480 C T snp 1217.77 0/1 99 79 37 42 0.53 intronic rs9515223 COL4A2 AU,AD NM_001846 exon24 c.154481+749C>T 0.510583 0.3006 Uncertain 13_111117745_C->T 13 111117745 111117745 C T snp 354.77 0/1 99 30 12 18 0.6 intronic rs3803236 COL4A2 AU,AD NM_001846 exon25 c.157501-6C>T 0.513978 0.3006 0.613200 0.5383 0.3018 Uncertain 13_111117984_C->T 13 111117984 111117984 C T snp 195.77 0/1 99 19 9 10 0.53 intronic rs3825490 COL4A2 AU,AD NM_001846 exon25 c.157703+31C>T 0.101837 0.2431 0.057632 0.1058 0.2400 Uncertain 13_111118221_T->C 13 111118221 111118221 T C snp 270.77 0/1 94 12 3 9 0.75 intronic rs1983932 COL4A2 AU,AD NM_001846 exon26 c.158099-128T>C 0.513778 0.2986 Uncertain 13_111118546_T->G 13 111118546 111118546 T G snp 702.77 0/1 99 56 27 29 0.52 intronic rs1927350 COL4A2 AU,AD NM_001846 exon26 c.158159+137T>G 0.534345 0.3016 Uncertain 13_111118574_A->G 13 111118574 111118574 A G snp 383.77 0/1 99 32 19 13 0.41 intronic rs1927351 COL4A2 AU,AD NM_001846 exon26 c.158159+165A>G 0.534145 0.3016 Uncertain 13_111118580_G->A 13 111118580 111118580 G A snp 935.77 1/1 69 27 0 27 1.0 intronic rs1927352 COL4A2 AU,AD NM_001846 exon26 c.158159+171G>A 0.959265 0.9762 Uncertain 13_111118615_A->T 13 111118615 111118615 A T snp 142.77 0/1 99 12 6 6 0.5 intronic rs1927353 COL4A2 AU,AD NM_001846 exon26 c.158159+206A>T 0.534345 0.3026 Uncertain 13_111119146_A->T 13 111119146 111119146 A T snp 80.77 0/1 99 6 3 3 0.5 intronic rs3803233 COL4A2 AU,AD NM_001846 exon27 c.159136-240A>T 0.422125 0.1935 Uncertain 13_111119296_A->G 13 111119296 111119296 A G snp 1402.77 0/1 99 119 57 62 0.52 intronic rs3803232 COL4A2 AU,AD NM_001846 exon27 c.159136-90A>G 0.532348 0.3016 Uncertain 13_111120685_T->- 13 111120685 111120685 T - indel 3321.73 0/1 99 171 71 100 0.58 intronic rs34167123 COL4A2 AU,AD NM_001846 exon28 c.161313-878delT 0.180911 0.1677 0.2334 0.1707 Uncertain 13_111121444_C->A 13 111121444 111121444 C A snp 769.77 0/1 99 57 25 32 0.56 intronic rs9559813 COL4A2 AU,AD NM_001846 exon28 c.161313-119C>A 0.427117 0.1895 Uncertain 13_111121483_A->G 13 111121483 111121483 A G snp 1093.77 0/1 99 85 38 47 0.55 intronic rs9559814 COL4A2 AU,AD NM_001846 exon28 c.161313-80A>G 0.525759 0.2966 Uncertain 13_111121717_A->G 13 111121717 111121717 A G snp 198.77 0/1 58 8 2 6 0.75 intronic rs9515229 COL4A2 AU,AD NM_001846 exon28 c.161421+46A>G 0.525759 0.2956 0.648164 0.5684 0.3170 Uncertain 13_111130599_G->C 13 111130599 111130599 G C snp 99.28 1/1 9 3 0 3 1.0 intronic rs9301457 COL4A2 AU,AD NM_001846 exon30 c.170261+88G>C 0.831669 0.8522 Uncertain 13_111132490_A->G 13 111132490 111132490 A G snp 74.77 0/1 69 5 2 3 0.6 intronic rs4773194 COL4A2 AU,AD NM_001846 exon31 c.172316-76A>G 0.836861 0.8542 Uncertain 13_111132556_C->T 13 111132556 111132556 C T snp 465.77 0/1 99 33 13 20 0.61 intronic rs9521803 COL4A2 AU,AD NM_001846 exon31 c.172316-10C>T 0.246406 0.3194 0.239878 0.3100 0.3286 Uncertain 13_111132820_G->A 13 111132820 111132820 G A snp 560.77 0/1 99 36 10 26 0.72 intronic rs1475438 COL4A2 AU,AD NM_001846 exon31 c.172487+83G>A 0.752196 0.8562 Uncertain 13_111134780_G->A 13 111134780 111134780 G A snp 673.77 0/1 99 56 26 30 0.54 intronic rs3803229 COL4A2 AU,AD NM_001846 exon32 c.174612-82G>A 0.28115 0.3552 Uncertain 13_111134858_T->C 13 111134858 111134858 T C snp 1173.77 0/1 99 102 49 53 0.52 splicing rs3803228 COL4A2 AU,AD NM_001846 exon32 c.174612-4T>C 0.190895 0.1845 0.192017 0.1752 0.1984 Pathogenic 13_111137167_T->C 13 111137167 111137167 T C snp 1092.77 1/1 78 36 0 36 1.0 intronic rs1983930 COL4A2 AU,AD NM_001846 exon33 c.177001-84T>C 0.996605 1 Uncertain 13_111137891_A->G 13 111137891 111137891 A G snp 174.77 0/1 99 12 5 7 0.58 intronic rs11619327 COL4A2 AU,AD NM_001846 exon34 c.177751-110A>G Uncertain 13_111137906_G->A 13 111137906 111137906 G A snp 252.77 0/1 99 23 13 10 0.43 intronic rs9521806 COL4A2 AU,AD NM_001846 exon34 c.177751-95G>A 0.461062 0.6141 Uncertain 13_111143755_T->C 13 111143755 111143755 T C snp 869.77 0/1 99 56 15 41 0.73 intronic rs413756 COL4A2 AU,AD NM_001846 exon37 c.183437+68T>C 0.718051 0.7688 Uncertain 13_111145410_G->A 13 111145410 111145410 G A snp 166.77 0/1 99 18 11 7 0.39 intronic rs61970306 COL4A2 AU,AD NM_001846 exon39 c.185307-147G>A Uncertain 13_111145427_T->C 13 111145427 111145427 T C snp 304.77 0/1 99 31 20 11 0.35 intronic rs9555711 COL4A2 AU,AD NM_001846 exon39 c.185307-130T>C Uncertain 13_111145428_G->A 13 111145428 111145428 G A snp 257.77 0/1 99 32 21 11 0.34 intronic rs3831149 COL4A2 AU,AD NM_001846 exon39 c.185307-129G>A Uncertain 13_111145676_G->C 13 111145676 111145676 G C snp 1294.77 0/1 99 104 49 55 0.53 intronic rs2391833 COL4A2 AU,AD NM_001846 exon39 c.185379+47G>C 0.401158 0.5228 0.424972 0.5158 0.5783 Uncertain 13_111145843_G->C 13 111145843 111145843 G C snp 74.77 0/1 99 10 6 4 0.4 intronic rs4426225 COL4A2 AU,AD NM_001846 exon39 c.185379+214G>C 0.686502 0.755 Uncertain 13_111147637_A->G 13 111147637 111147637 A G snp 2574.77 0/1 99 190 77 113 0.59 intronic rs376824557 COL4A2 AU,AD NM_001846 exon40 c.187438-51A>G 0.00159744 0.000349 Uncertain 13_111153830_C->G 13 111153830 111153830 C G snp 220.84 1/1 18 6 0 6 1.0 intronic rs7993094 COL4A2 AU,AD NM_001846 exon41 c.193764-184C>G 0.938498 1 Uncertain 13_111153934_G->A 13 111153934 111153934 G A snp 951.77 1/1 69 36 0 36 1.0 intronic rs378601 COL4A2 AU,AD NM_001846 exon41 c.193764-80G>A 0.948882 1 Uncertain 13_111154058_T->A 13 111154058 111154058 T A snp 2703.77 1/1 99 98 0 98 1.0 exonic rs439831 COL4A2 AU,AD synonymous SNV NM_001846 exon41 c.T3804A p.P1268P 0.939497 1 0.948443 0.9839 0.9999 Uncertain 13_111154061_T->C 13 111154061 111154061 T C snp 2723.77 1/1 99 99 0 99 1.0 exonic rs409858 COL4A2 AU,AD synonymous SNV NM_001846 exon41 c.T3807C p.G1269G 0.939497 1 0.948328 0.9839 0.9999 Uncertain 13_111154159_C->T 13 111154159 111154159 C T snp 668.77 0/1 99 60 30 30 0.5 intronic rs388222 COL4A2 AU,AD NM_001846 exon41 c.193881+28C>T 0.428714 0.6151 0.363117 0.4095 0.6482 Uncertain 13_111154160_G->A 13 111154160 111154160 G A snp 704.77 0/1 99 59 30 29 0.49 intronic rs2281968 COL4A2 AU,AD NM_001846 exon41 c.193881+29G>A 0.508387 0.3839 0.579785 0.5717 0.3489 Uncertain 13_111155363_G->A 13 111155363 111155363 G A snp 1838.77 1/1 99 58 0 58 1.0 ncRNA_intronic rs406174 COL4A2-AS1 AU 0.935903 1 Uncertain 13_111155428_C->T 13 111155428 111155428 C T snp 4172.77 1/1 99 154 0 154 1.0 ncRNA_intronic rs401316 COL4A2-AS1 AU 1 1 1 1 Uncertain 13_111155711_C->T 13 111155711 111155711 C T snp 1962.77 0/1 99 245 157 88 0.36 ncRNA_intronic rs4773198 COL4A2-AS1 AU 0.345248 0.2351 0.375413 0.3855 0.2316 Uncertain 13_111155773_T->C 13 111155773 111155773 T C snp 4470.77 1/1 99 150 0 150 1.0 exonic rs438758 COL4A2 AU,AD synonymous SNV NM_001846 exon43 c.T4083C p.T1361T 0.980232 0.9782 0.987141 0.9934 0.9755 Uncertain 13_111155779_G->A 13 111155779 111155779 G A snp 1430.77 0/1 99 130 74 56 0.43 exonic rs4773199 COL4A2 AU,AD synonymous SNV NM_001846 exon43 c.G4089A p.A1363A 0.186302 0.0496 0.241984 0.2775 0.0795 Uncertain 13_111156011_A->C 13 111156011 111156011 A C snp 273.98 0/1 13 9 1 8 0.89 ncRNA_intronic rs422514 COL4A2-AS1 AU 0.590455 0.7649 Uncertain 13_111156047_C->G 13 111156047 111156047 C G snp 246.77 0/1 99 25 15 10 0.4 ncRNA_intronic rs9284254 COL4A2-AS1 AU 0.179313 0.0496 Uncertain 13_111156153_G->A 13 111156153 111156153 G A snp 1148.77 0/1 99 118 63 55 0.47 ncRNA_intronic rs9301460 COL4A2-AS1 AU 0.359625 0.2341 0.387784 0.3541 0.1962 Uncertain 13_111156411_G->A 13 111156411 111156411 G A snp 817.77 0/1 99 61 30 31 0.51 ncRNA_intronic rs414881 COL4A2-AS1 AU 0.476038 0.5923 Uncertain 13_111156499_C->T 13 111156499 111156499 C T snp 2164.77 1/1 99 83 0 83 1.0 exonic rs4771683 COL4A2 AU,AD synonymous SNV NM_001846 exon45 c.C4290T p.F1430F 0.935903 1 0.945616 0.9833 0.9999 Uncertain 13_111156773_A->G 13 111156773 111156773 A G snp 269.8 1/1 21 9 0 9 1.0 ncRNA_intronic rs4771684 COL4A2-AS1 AU 0.950879 1 Uncertain 13_111158874_A->G 13 111158874 111158874 A G snp 5152.77 1/1 99 191 0 191 1.0 exonic rs445348 COL4A2 AU,AD synonymous SNV NM_001846 exon46 c.A4515G p.P1505P 0.751997 0.5635 0.870919 0.8329 0.5860 Uncertain 13_111159054_G->A 13 111159054 111159054 G A snp 93.28 1/1 9 3 0 3 1.0 ncRNA_intronic rs7316969 COL4A2-AS1 AU 0.95008 1 Uncertain 13_111164198_T->C 13 111164198 111164198 T C snp 49.77 0/1 33 4 1 3 0.75 intronic rs2479426 COL4A2 AU,AD NM_001846 exon48 c.204030-82T>C 0.503794 0.3313 Uncertain 13_111164614_T->C 13 111164614 111164614 T C snp 280.77 0/1 99 21 8 13 0.62 UTR3 rs422733 COL4A2 AU,AD 0.466254 0.246 Uncertain 13_111164629_AA->- 13 111164629 111164630 AA - indel 324.19 0/1 4 15 1 14 0.93 UTR3 rs3074455 COL4A2 AU,AD 0.467652 0.247 Uncertain 13_111176393_A->G 13 111176393 111176393 A G snp 2655.77 0/1 99 217 104 113 0.52 exonic rs419244 RAB20 AU synonymous SNV NM_017817 exon2 c.T324C p.F108F 0.852436 0.9554 0.809396 0.8548 0.9509 Uncertain 13_111267758_T->C 13 111267758 111267758 T C snp 1829.77 1/1 99 72 0 72 1.0 upstream rs28384426 CARKD AU 0.108227 0.1647 Uncertain 13_111274467_G->A 13 111274467 111274467 G A snp 93.28 1/1 9 3 0 3 1.0 intronic rs441805 CARKD AU NM_018210 exon2 c.6541-95G>A 0.380192 0.3234 Uncertain 13_111276727_TATCT->- 13 111276727 111276731 TATCT - indel 321.87 1/1 15 7 0 7 1.0 intronic rs10544782 CARKD AU NM_018210 exon3 c.8605+101_8605+105delTATCT 0.155152 0.1587 Uncertain 13_111277810_C->A 13 111277810 111277810 C A snp 615.77 1/1 45 22 0 22 1.0 intronic rs330561 CARKD AU NM_018210 exon4 c.9604+185C>A 0.999401 1 Uncertain 13_111280002_T->C 13 111280002 111280002 T C snp 1218.77 1/1 90 38 0 38 1.0 intronic rs3742193 CARKD AU NM_018210 exon5 c.11873+108T>C 0.160543 0.1587 Uncertain 13_111280078_G->C 13 111280078 111280078 G C snp 141.03 1/1 12 4 0 4 1.0 intronic rs3742194 CARKD AU NM_018210 exon5 c.11873+184G>C 0.146765 0.1587 Uncertain 13_111289698_A->G 13 111289698 111289698 A G snp 3702.77 1/1 99 123 0 123 1.0 intronic rs3825467 CARKD AU NM_018210 exon9 c.21575+102A>G 0.153954 0.1607 Uncertain 13_111290220_A->G 13 111290220 111290220 A G snp 390.77 1/1 30 11 0 11 1.0 intronic rs9588214 CARKD AU NM_018210 exon10 c.22567-368A>G 0.149161 0.1597 Uncertain 13_111290258_C->T 13 111290258 111290258 C T snp 93.28 1/1 9 3 0 3 1.0 intronic rs77982490 CARKD AU NM_018210 exon10 c.22567-330C>T 0.121805 0.1587 Uncertain 13_111290880_G->A 13 111290880 111290880 G A snp 7340.77 1/1 99 250 0 250 1.0 UTR3 rs330563 CARKD AU 0.378195 0.3224 0.334283 0.3306 0.3130 Uncertain 13_111291044_T->C 13 111291044 111291044 T C snp 3442.77 1/1 99 119 0 119 1.0 UTR3 rs330564 CARKD AU 0.343051 0.3234 0.3371 0.3576 Uncertain 13_111293586_G->- 13 111293586 111293586 G - indel 301.75 1/1 24 8 0 8 1.0 downstream rs10709696 CARS2 AR 1 1 Uncertain 13_111293640_G->A 13 111293640 111293640 G A snp 284.77 0/1 99 24 14 10 0.42 downstream rs7998306 CARS2 AR 0.344848 0.2867 Uncertain 13_111294920_-->C 13 111294920 111294920 - C indel 7563.73 1/1 99 234 0 234 1.0 intronic rs11414164 CARS2 AR NM_024537 exon2 c.985+52insC 0.9717 0.9993 Uncertain 13_111298392_A->G 13 111298392 111298392 A G snp 3630.77 1/1 99 140 0 140 1.0 exonic rs436462 CARS2 AR synonymous SNV NM_024537 exon12 c.T1239C p.D413D 0.474241 0.4246 0.412809 0.3964 0.4062 Uncertain 13_111315287_C->T 13 111315287 111315287 C T snp 852.77 0/1 99 88 48 40 0.45 intronic rs78317917 CARS2 AR NM_024537 exon7 c.21914-510C>T 0.14976 0.245 Uncertain 13_111315299_T->C 13 111315299 111315299 T C snp 2765.77 1/1 99 101 0 101 1.0 intronic rs4622384 CARS2 AR NM_024537 exon7 c.21914-498T>C 0.855831 0.7837 Uncertain 13_111329200_A->- 13 111329200 111329200 A - indel 146.87 1/1 15 5 0 5 1.0 intronic rs3215828 CARS2 AR NM_024537 exon9 c.35437-120delA 0.140176 0.1677 Uncertain 13_111350281_C->T 13 111350281 111350281 C T snp 4134.77 1/1 99 161 0 161 1.0 intronic rs72661701 CARS2 AR NM_024537 exon13 c.59901-3503C>T 0.198083 0.1796 0.2284 0.2197 Uncertain 13_111358488_G->A 13 111358488 111358488 G A snp 1167.77 1/1 84 44 0 44 1.0 UTR5 rs3818496 CARS2 AR 0.577276 0.7232 0.7661 0.9231 Uncertain 13_111364877_-->GGG 13 111364877 111364877 - GGG indel 325.75 1/1 24 8 0 8 1.0 upstream rs144160325 ING1 AU Uncertain 13_111365104_A->G 13 111365104 111365104 A G snp 4539.77 1/1 99 163 0 163 1.0 UTR5 rs12875067 ING1 AU 0.631789 0.7847 0.7333 0.825 Uncertain 13_111368164_T->G 13 111368164 111368164 T G snp 1964.77 1/1 99 71 0 71 1.0 exonic rs7338333 ING1 AU nonsynonymous SNV NM_005537 exon1 c.T374G p.L125R 0.999401 1 0.998931 0.9998 1 1 T 0.0 P -0.969 T 0.0 T 0.0 T Pathogenic 13_111368316_C->T 13 111368316 111368316 C T snp 1982.77 1/1 99 74 0 74 1.0 exonic rs9555726 ING1 AU synonymous SNV NM_005537 exon1 c.C526T p.L176L 0.58147 0.7252 0.632808 0.6955 0.7407 Uncertain 13_111372392_T->A 13 111372392 111372392 T A snp 141.03 1/1 12 4 0 4 1.0 UTR3 rs4773242 ING1 AU 0.991014 1 Uncertain 13_111562803_T->C 13 111562803 111562803 T C snp 301.77 0/1 99 16 7 9 0.56 intronic rs35930208 ANKRD10 AU NM_017664 exon5 c.30981-161T>C 0.301917 0.1706 Uncertain 13_111566989_A->G 13 111566989 111566989 A G snp 428.77 0/1 99 28 11 17 0.61 intronic rs59070384 ANKRD10 AU NM_017664 exon6 c.35088-82A>G 0.545927 0.2232 Uncertain 13_111567039_G->C 13 111567039 111567039 G C snp 765.77 0/1 99 70 39 31 0.44 intronic rs56924528 ANKRD10 AU NM_017664 exon6 c.35088-32G>C 0.535144 0.2232 0.633579 0.6478 0.2804 Uncertain 13_111806245_A->G 13 111806245 111806245 A G snp 3194.83 0/1 99 250 118 132 0.53 intronic rs61966721 ARHGEF7 AU NM_145735 exon2 c.38378-6A>G 0.451478 0.6796 0.358286 0.4176 0.7154 Uncertain 13_111857428_G->A 13 111857428 111857428 G A snp 68.77 0/1 97 9 6 3 0.33 intronic rs7317770 ARHGEF7 AU NM_001113512 exon2 c.89762-207G>A 0.392372 0.1012 Uncertain 13_111893413_C->T 13 111893413 111893413 C T snp 95.77 0/1 99 10 6 4 0.4 intronic rs7985441 ARHGEF7 AU NM_001113512 exon6 c.128345-2805C>T 0.237819 0.0347 Uncertain 13_111953625_G->A 13 111953625 111953625 G A snp 661.77 1/1 51 17 0 17 1.0 intergenic rs4771739 ARHGEF7 AU 0.808506 0.9018 Uncertain 13_111955465_T->C 13 111955465 111955465 T C snp 985.77 1/1 72 31 0 31 1.0 intergenic rs1555751 ARHGEF7 AU 0.935903 0.9157 0.928879 0.9349 0.9171 Uncertain 13_111968379_C->T 13 111968379 111968379 C T snp 227.77 0/1 99 20 10 10 0.5 upstream rs75547346 TEX29 AU 0.0169728 Uncertain 13_111968680_C->T 13 111968680 111968680 C T snp 443.77 0/1 99 42 25 17 0.4 intronic rs7991693 TEX29 AU 0.555511 0.7272 Uncertain 13_111973050_G->A 13 111973050 111973050 G A snp 125.77 0/1 99 16 11 5 0.31 UTR5 rs11841171 TEX29 AU 0.152356 0.0734 Uncertain 13_111973098_T->C 13 111973098 111973098 T C snp 505.77 0/1 99 41 20 21 0.51 UTR5 rs12855715 TEX29 AU 0.435703 0.8006 Uncertain 13_111980478_A->G 13 111980478 111980478 A G snp 1519.77 1/1 99 59 0 59 1.0 intronic rs2479955 TEX29 AU NM_152324 exon3 c.7292-51A>G 0.810503 0.8581 0.805197 Uncertain 13_111980537_C->T 13 111980537 111980537 C T snp 956.77 0/1 99 74 32 42 0.57 exonic rs1359428 TEX29 AU synonymous SNV NM_152324 exon3 c.C66T p.D22D 0.541733 0.7927 0.421113 0.5416 0.8213 Uncertain 13_111991463_G->C 13 111991463 111991463 G C snp 110.77 0/1 99 13 8 5 0.38 intronic rs9522188 TEX29 AU NM_001303133 exon4 c.11093-177G>C 0.499201 0.8452 Uncertain 13_111992063_C->T 13 111992063 111992063 C T snp 184.77 0/1 99 36 26 10 0.28 intronic rs7329221 TEX29 AU NM_001303133 exon5 c.11662-146C>T 0.038139 Uncertain 13_111992288_C->T 13 111992288 111992288 C T snp 385.77 0/1 99 73 58 15 0.21 intronic rs2253707 TEX29 AU NM_001303133 exon5 c.11732+9C>T 0.197484 0.002 0.186222 0.1452 0.0028 Uncertain 13_111992314_A->G 13 111992314 111992314 A G snp 69.77 0/1 98 49 44 5 0.1 intronic rs2253706 TEX29 AU NM_001303133 exon5 c.11732+35A>G 0.113618 0.043980 0.0844 0.0003 Uncertain 13_111992387_G->A 13 111992387 111992387 G A snp 180.9 1/1 15 5 0 5 1.0 intronic rs118031919 TEX29 AU NM_001303133 exon5 c.11732+108G>A 0.0141773 0.0665 Uncertain 13_112297403_C->T 13 112297403 112297403 C T snp 3270.77 1/1 99 111 0 111 1.0 intergenic rs8000950 TEX29 AU 0.678315 0.6488 Uncertain 13_112324912_T->G 13 112324912 112324912 T G snp 955.77 1/1 72 26 0 26 1.0 intergenic rs1105513 TEX29 AU 0.421925 0.381 Uncertain 13_113032915_A->G 13 113032915 113032915 A G snp 203.77 0/1 99 30 22 8 0.27 intronic rs7324712 SPACA7 AU NM_145248 exon1 c.94+2122A>G 0.517173 0.3294 Uncertain 13_113032962_G->C 13 113032962 113032962 G C snp 616.77 0/1 99 53 29 24 0.45 intronic rs9550063 SPACA7 AU NM_145248 exon1 c.94+2169G>C 0.170527 0.006 0.2789 0.0021 Uncertain 13_113052388_A->G 13 113052388 113052388 A G snp 2247.77 0/1 99 225 124 101 0.45 exonic rs2296895 SPACA7 AU synonymous SNV NM_145248 exon3 c.A177G p.L59L 0.67472 0.624 0.655668 0.6307 0.6285 Uncertain 13_113052562_T->C 13 113052562 113052562 T C snp 882.77 0/1 99 62 30 32 0.52 intronic rs2296894 SPACA7 AU NM_145248 exon3 c.21753+110T>C Uncertain 13_113053470_T->A 13 113053470 113053470 T A snp 1348.77 0/1 99 122 62 60 0.49 exonic rs10816 SPACA7 AU nonsynonymous SNV NM_145248 exon4 c.T332A p.V111D 0.666933 0.624 0.663540 0.6411 0.6258 0.71 T 0.0 P -0.975 T 0.0 T 0.0 T Pathogenic 13_113055295_A->G 13 113055295 113055295 A G snp 441.77 0/1 99 38 17 21 0.55 intronic rs3742225 SPACA7 AU NM_145248 exon5 c.24683-87A>G 0.527157 0.381 Uncertain 13_113153114_T->C 13 113153114 113153114 T C snp 1162.77 1/1 87 37 0 37 1.0 intronic rs9549532 TUBGCP3 AU NM_001286277 exon3 c.13052-244T>C 0.815495 0.9504 Uncertain 13_113208328_C->T 13 113208328 113208328 C T snp 2226.77 0/1 99 175 77 98 0.56 intronic TUBGCP3 AU NM_001286278 exon14 c.55147-42C>T Uncertain 13_113333684_C->T 13 113333684 113333684 C T snp 1446.77 1/1 99 56 0 56 1.0 UTR5 rs7338610 ATP11AUN AU 0.483027 0.7361 0.431878 0.5295 0.7298 Uncertain 13_113344803_G->A 13 113344803 113344803 G A snp 390.77 0/1 99 38 19 19 0.5 intronic rs3742227 ATP11A AU NM_015205 exon1 c.39+34G>A 0.129193 0.2649 0.080666 0.2123 0.3636 Uncertain 13_113439586_G->T 13 113439586 113439586 G T snp 1090.77 0/1 99 123 73 50 0.41 intronic rs11616475 ATP11A AU NM_015205 exon2 c.94841+15G>T 0.27516 0.2401 0.302706 0.3494 0.2510 Uncertain 13_113459221_A->G 13 113459221 113459221 A G snp 442.77 0/1 99 31 15 16 0.52 intronic rs3742228 ATP11A AU NM_015205 exon3 c.114540-49A>G 0.23143 0.2044 0.192900 0.1410 0.1846 Uncertain 13_113460624_C->T 13 113460624 113460624 C T snp 1588.77 0/1 99 150 78 72 0.48 intronic rs2275282 ATP11A AU NM_015205 exon4 c.115877+17C>T 0.00579073 0.0268 0.000154 0.0014 0.0162 Uncertain 13_113465109_G->T 13 113465109 113465109 G T snp 695.77 0/1 99 46 17 29 0.63 intronic rs9577843 ATP11A AU NM_015205 exon5 c.120310+69G>T 0.264177 0.255 Uncertain 13_113473579_C->T 13 113473579 113473579 C T snp 1069.77 0/1 99 89 40 49 0.55 intronic rs2277432 ATP11A AU NM_015205 exon7 c.128887-38C>T 0.00599042 0.0278 0.000154 0.0015 0.0161 Uncertain 13_113473599_AT->- 13 113473599 113473600 AT - indel 2322.73 0/1 99 108 59 49 0.45 intronic rs34166778 ATP11A AU NM_015205 exon7 c.128887-18_128887-17delAT 0.242013 0.254 0.258546 0.2528 0.2706 Uncertain 13_113473629_G->A 13 113473629 113473629 G A snp 1732.77 0/1 99 134 56 78 0.58 exonic rs2277433 ATP11A AU synonymous SNV NM_015205 exon7 c.G582A p.A194A 0.0319489 0.0268 0.036522 0.0107 0.0161 1 D -0.992 T Likely benign 13_113479548_A->G 13 113479548 113479548 A G snp 182.9 1/1 15 5 0 5 1.0 intronic rs383353 ATP11A AU NM_015205 exon11 c.135013-195A>G 0.660543 0.6528 Uncertain 13_113479820_A->G 13 113479820 113479820 A G snp 3072.77 1/1 99 110 0 110 1.0 exonic rs368865 ATP11A AU nonsynonymous SNV NM_015205 exon11 c.A949G p.M317V 0.842252 0.8661 0.798555 0.7648 0.8455 0.68 T 0.000 P -0.945 T 0.0 T 0.0 T Pathogenic 13_113487043_C->T 13 113487043 113487043 C T snp 728.77 1/1 54 24 0 24 1.0 intronic rs2297223 ATP11A AU NM_015205 exon14 c.142443-130C>T 0.376198 0.4484 Uncertain 13_113488782_T->C 13 113488782 113488782 T C snp 391.77 1/1 30 11 0 11 1.0 intronic rs282613 ATP11A AU NM_015205 exon15 c.144172-120T>C 0.414936 0.4732 Uncertain 13_113496566_C->G 13 113496566 113496566 C G snp 2749.77 1/1 99 103 0 103 1.0 intronic rs946006 ATP11A AU NM_015205 exon17 c.151859-23C>G 0.34984 0.4087 0.348844 0.3971 0.4897 Uncertain 13_113508537_-->T 13 113508537 113508537 - T indel 3703.73 1/1 99 93 0 93 1.0 intronic rs11424633 ATP11A AU NM_015205 exon19 c.163862-55insT 0.453275 0.4782 Uncertain 13_113508725_G->A 13 113508725 113508725 G A snp 1885.77 0/1 99 200 102 98 0.49 exonic rs149989045 ATP11A AU synonymous SNV NM_015205 exon19 c.G2124A p.T708T 0.00459265 0.0228 0.000154 0.0013 0.0156 1 D -0.974 T Likely benign 13_113508839_G->C 13 113508839 113508839 G C snp 2157.77 1/1 99 69 1 68 0.99 exonic rs9549573 ATP11A AU synonymous SNV NM_015205 exon19 c.G2238C p.L746L 0.696286 0.6567 0.717395 0.6343 0.6711 1.000 P -1.039 T Likely benign 13_113512004_C->G 13 113512004 113512004 C G snp 517.77 1/1 39 16 0 16 1.0 intronic rs7325522 ATP11A AU NM_015205 exon21 c.167401-127C>G 0.928914 0.9613 Uncertain 13_113525952_A->G 13 113525952 113525952 A G snp 718.77 1/1 54 24 0 24 1.0 intronic rs1765767 ATP11A AU NM_015205 exon26 c.181318-96A>G 0.976837 0.9563 Uncertain 13_113527967_G->A 13 113527967 113527967 G A snp 3432.77 1/1 99 155 1 154 0.99 exonic rs1320525 ATP11A AU synonymous SNV NM_015205 exon27 c.G3138A p.S1046S 0.3748 0.4742 0.363217 0.3836 0.4578 Uncertain 13_113536132_T->C 13 113536132 113536132 T C snp 4991.77 1/1 99 176 0 176 1.0 exonic rs1290177 ATP11A AU synonymous SNV NM_032189 exon29 c.T3330C p.N1110N 0.564896 0.6359 0.538213 0.5311 0.5852 Uncertain 13_113563351_A->G 13 113563351 113563351 A G snp 588.77 1/1 45 16 0 16 1.0 intergenic rs2993328 ATP11A AU 0.828474 0.9276 Uncertain 13_113639862_G->A 13 113639862 113639862 G A snp 2161.77 1/1 99 75 0 75 1.0 intronic rs2993287 MCF2L AU NM_001112732 exon1 c.79+16090G>A 0.435903 0.4127 Uncertain 13_113639869_A->G 13 113639869 113639869 A G snp 1892.77 1/1 99 65 0 65 1.0 intronic rs3011543 MCF2L AU NM_001112732 exon1 c.79+16097A>G 0.891573 0.7679 Uncertain 13_113639872_A->G 13 113639872 113639872 A G snp 1759.77 1/1 99 57 0 57 1.0 intronic rs3011542 MCF2L AU NM_001112732 exon1 c.79+16100A>G 0.86262 0.7688 Uncertain 13_113681076_A->G 13 113681076 113681076 A G snp 50.74 1/1 6 2 0 2 1.0 intronic rs2993308 MCF2L AU NM_024979 exon3 c.22848+2004A>G 0.705272 0.8383 Uncertain 13_113681243_C->A 13 113681243 113681243 C A snp 3023.77 1/1 99 114 1 113 0.99 intronic rs9549343 MCF2L AU NM_024979 exon3 c.22848+2171C>A 0.353035 0.2827 0.354974 0.4390 0.3480 Uncertain 13_113699488_T->C 13 113699488 113699488 T C snp 7104.77 1/1 99 249 1 248 1.0 intronic rs3814266 MCF2L AU NM_024979 exon4 c.43360-96T>C 0.519968 0.4524 Uncertain 13_113735390_T->C 13 113735390 113735390 T C snp 1714.77 1/1 99 59 0 59 1.0 intronic rs494129 MCF2L AU NM_024979 exon16 c.79302-136T>C 0.786741 0.995 Uncertain 13_113735733_G->A 13 113735733 113735733 G A snp 141.03 1/1 12 4 0 4 1.0 intronic rs497724 MCF2L AU NM_024979 exon16 c.79369+140G>A 0.455671 0.2629 Uncertain 13_113738175_G->A 13 113738175 113738175 G A snp 1775.77 1/1 99 64 0 64 1.0 intronic rs491455 MCF2L AU NM_024979 exon18 c.82087-136G>A 0.586062 0.5218 Uncertain 13_113739518_G->A 13 113739518 113739518 G A snp 660.77 1/1 51 18 0 18 1.0 intronic rs546818 MCF2L AU NM_024979 exon20 c.83268+26G>A 0.468251 0.2579 0.557837 0.5573 0.2912 Uncertain 13_113740706_A->G 13 113740706 113740706 A G snp 814.77 1/1 60 21 0 21 1.0 intronic rs1745949 MCF2L AU NM_024979 exon21 c.84339+143A>G 0.982827 1 Uncertain 13_113741851_C->A 13 113741851 113741851 C A snp 1997.77 1/1 99 65 0 65 1.0 intronic rs514181 MCF2L AU NM_024979 exon22 c.85546+81C>A 0.464856 0.2708 Uncertain 13_113742805_C->G 13 113742805 113742805 C G snp 5393.77 1/1 99 202 0 202 1.0 intronic rs7986589 MCF2L AU NM_024979 exon25 c.86651-70C>G 0.920128 1 Uncertain 13_113743768_T->C 13 113743768 113743768 T C snp 634.77 1/1 48 18 0 18 1.0 intronic rs534298 MCF2L AU NM_024979 exon26 c.87699-155T>C 0.557508 0.6151 Uncertain 13_113744139_G->A 13 113744139 113744139 G A snp 5633.77 1/1 99 206 0 206 1.0 intronic rs4907483 MCF2L AU NM_024979 exon26 c.87818+97G>A 0.602636 0.6935 0.632862 0.7007 0.6813 Uncertain 13_113744669_A->G 13 113744669 113744669 A G snp 93.28 1/1 9 3 0 3 1.0 intronic rs553702 MCF2L AU NM_024979 exon26 c.87818+627A>G 0.80012 0.9107 Uncertain 13_113745611_T->G 13 113745611 113745611 T G snp 1628.77 1/1 99 49 0 49 1.0 intronic rs4907485 MCF2L AU NM_024979 exon26 c.87818+1569T>G 0.48742 0.4812 Uncertain 13_113748690_C->T 13 113748690 113748690 C T snp 1618.77 1/1 99 54 0 54 1.0 intronic rs7327099 MCF2L AU NM_024979 exon27 c.92603-137C>T 0.751198 0.9911 Uncertain 13_113749475_G->A 13 113749475 113749475 G A snp 3260.77 1/1 99 108 0 108 1.0 intronic rs2146752 MCF2L AU NM_024979 exon27 c.92725+526G>A 0.625998 0.6895 Uncertain 13_113750586_G->A 13 113750586 113750586 G A snp 483.77 0/1 99 34 15 19 0.56 intronic rs12855893 MCF2L AU NM_024979 exon28 c.94460-98G>A 0.203275 0.0704 Uncertain 13_113776947_T->C 13 113776947 113776947 T C snp 235.77 0/1 99 23 14 9 0.39 upstream rs563964 F10 AR 0.408546 0.1458 Uncertain 13_113776949_C->A 13 113776949 113776949 C A snp 338.77 0/1 99 26 14 12 0.46 upstream rs3211717 F10 AR 0.211861 0.0972 Uncertain 13_113792754_T->C 13 113792754 113792754 T C snp 258.77 0/1 99 32 19 13 0.41 intronic rs2251102 F10 AR NM_000504 exon3 c.15601-16T>C 0.802716 0.9018 0.786454 0.8359 0.8893 Uncertain 13_113792893_C->A 13 113792893 113792893 C A snp 282.77 0/1 99 37 22 15 0.41 intronic rs2026160 F10 AR NM_000504 exon3 c.15626+98C>A 0.695288 0.8869 Uncertain 13_113801737_C->T 13 113801737 113801737 C T snp 720.77 0/1 99 87 52 35 0.4 exonic rs5960 F10 AR synonymous SNV NM_000504 exon7 c.C792T p.T264T 0.623203 0.5238 0.739120 0.7597 0.5002 Uncertain 13_113801843_A->G 13 113801843 113801843 A G snp 2188.77 1/1 99 77 0 77 1.0 intronic rs2031184 F10 AR NM_000504 exon7 c.24641+33A>G 0.935703 1 0.930417 0.9810 1 Uncertain 13_113812962_G->A 13 113812962 113812962 G A snp 641.77 0/1 99 42 17 25 0.6 upstream rs2273971 PROZ AU 0.658746 0.4514 0.841692 0.8257 0.5161 ID=CR057420;DIS=Reduced Protein Z concentration;TAG=DFP;PUB=15879328 DFP Uncertain 13_113818708_A->T 13 113818708 113818708 A T snp 486.77 0/1 99 29 10 19 0.66 intronic rs3024731 PROZ AU NM_001256134 exon6 c.5852-118A>T 0.563099 0.4782 Uncertain 13_113818817_T->C 13 113818817 113818817 T C snp 449.77 0/1 99 100 66 34 0.34 intronic rs45606038 PROZ AU NM_001256134 exon6 c.5852-9T>C 0.266773 0.2827 0.3354 0.3460 Uncertain 13_113818817_-->C 13 113818817 113818817 - C indel 2729.73 1/1 99 100 12 88 0.88 intronic rs150762485 PROZ AU NM_001256134 exon6 c.5852-9insC 0.667133 0.7083 0.6289 0.6378 Uncertain 13_113818900_A->G 13 113818900 113818900 A G snp 2387.77 1/1 99 90 0 90 1.0 exonic rs564081 PROZ AU synonymous SNV NM_003891 exon5 c.A447G p.T149T 0.946685 1 0.946102 0.9845 1 Uncertain 13_113819513_G->A 13 113819513 113819513 G A snp 351.77 0/1 99 34 17 17 0.5 intronic rs3024735 PROZ AU NM_001256134 exon7 c.6460+79G>A 0.304513 0.5437 ID=CS040554;DIS=Cerebral ischaemia, protection against, association;TAG=DP;PUB=14671240 DP Uncertain 13_113825761_A->C 13 113825761 113825761 A C snp 317.77 0/1 99 23 12 11 0.48 intronic rs3024770 PROZ AU NM_001256134 exon9 c.12933-146A>C 0.053115 0.2153 Uncertain 13_113825843_C->T 13 113825843 113825843 C T snp 1812.77 0/1 99 137 58 79 0.58 intronic rs3024771 PROZ AU NM_001256134 exon9 c.12933-64C>T 0.053115 0.2153 Uncertain 13_113833488_G->A 13 113833488 113833488 G A snp 107.77 0/1 99 12 8 4 0.33 intronic rs2297186 PCID2 AU NM_018386 exon3 c.892+85G>A 0.053115 0.2143 Uncertain 13_113833499_G->A 13 113833499 113833499 G A snp 74.77 0/1 99 7 4 3 0.43 intronic rs486407 PCID2 AU NM_018386 exon3 c.892+96G>A 0.591653 0.4544 Uncertain 13_113838536_T->C 13 113838536 113838536 T C snp 83.77 0/1 67 5 2 3 0.6 intronic rs9577480 PCID2 AU NM_018386 exon7 c.6148-123T>C 0.0529153 0.2143 Uncertain 13_113839789_AGA->- 13 113839789 113839791 AGA - indel 4311.73 0/1 99 174 88 86 0.49 intronic rs3834946 PCID2 AU NM_018386 exon8 c.7287-9_7287-7delAGA 0.0529153 0.2143 0.0257 0.2193 Uncertain 13_113852282_A->G 13 113852282 113852282 A G snp 48.74 1/1 6 2 0 2 1.0 intronic rs545026 PCID2 AU NM_018386 exon13 c.19993-222A>G 0.828674 0.7857 Uncertain 13_113852425_C->T 13 113852425 113852425 C T snp 3855.77 1/1 99 138 0 138 1.0 intronic rs546686 PCID2 AU NM_018386 exon13 c.19993-79C>T 0.910942 1 Uncertain 13_113854560_G->A 13 113854560 113854560 G A snp 220.77 0/1 99 17 10 7 0.41 intronic rs3751411 PCID2 AU NM_018386 exon14 c.22229-180G>A 0.369409 0.3462 Uncertain 13_113854600_T->C 13 113854600 113854600 T C snp 627.77 0/1 99 39 16 23 0.59 intronic rs3751412 PCID2 AU NM_018386 exon14 c.22229-140T>C 0.913538 0.7808 Uncertain 13_113854715_C->T 13 113854715 113854715 C T snp 2691.77 0/1 99 225 106 119 0.53 intronic rs3751413 PCID2 AU NM_018386 exon14 c.22229-25C>T 0.582268 0.4544 0.712825 0.6817 0.4393 Uncertain 13_113862801_G->A 13 113862801 113862801 G A snp 1674.77 1/1 99 52 0 52 1.0 UTR5 rs9549692 CUL4A AU 0.967252 1 Uncertain 13_113888201_T->C 13 113888201 113888201 T C snp 4432.77 1/1 99 164 0 164 1.0 intronic rs2146408 CUL4A AU NM_003589 exon7 c.14916-9T>C 0.911941 1 0.910810 0.9753 1 Uncertain 13_113889474_C->T 13 113889474 113889474 C T snp 1794.77 0/1 99 174 93 81 0.47 intronic rs2287250 CUL4A AU NM_003589 exon8 c.16165+15C>T 0.573283 0.4514 0.703983 0.6738 0.4361 Uncertain 13_113891042_T->C 13 113891042 113891042 T C snp 263.77 0/1 99 42 29 13 0.31 intronic rs2287252 CUL4A AU NM_003589 exon9 c.17842-94T>C 0.0519169 0.2093 Uncertain 13_113891075_G->A 13 113891075 113891075 G A snp 1530.77 1/1 99 59 0 59 1.0 intronic rs2287253 CUL4A AU NM_003589 exon9 c.17842-61G>A 0.649161 0.6627 0.741349 Uncertain 13_113893625_G->A 13 113893625 113893625 G A snp 636.77 0/1 99 49 25 24 0.49 intronic rs7317558 CUL4A AU NM_003589 exon10 c.20452-121G>A 0.333666 0.5486 Uncertain 13_113893887_C->T 13 113893887 113893887 C T snp 1030.77 0/1 99 104 57 47 0.45 intronic rs3794423 CUL4A AU NM_003589 exon10 c.20571+22C>T 0.0537141 0.2103 0.003921 0.0259 0.2120 Uncertain 13_113899004_C->A 13 113899004 113899004 C A snp 544.77 1/1 42 15 0 15 1.0 intronic rs3932499 CUL4A AU NM_003589 exon12 c.25534+176C>A 0.910343 1 Uncertain 13_113900197_G->A 13 113900197 113900197 G A snp 778.77 1/1 57 27 0 27 1.0 intronic rs2302756 CUL4A AU NM_003589 exon15 c.26975-72G>A 0.707069 0.6647 Uncertain 13_113907190_T->G 13 113907190 113907190 T G snp 56.74 1/1 6 2 0 2 1.0 intronic rs9549714 CUL4A AU NM_003589 exon16 c.34101-205T>G 0.910343 1 Uncertain 13_113907391_A->G 13 113907391 113907391 A G snp 963.77 0/1 99 79 33 46 0.58 splicing rs9549365 CUL4A AU NM_003589 exon16 c.34101-4A>G 0.3125 0.5456 0.180225 0.2943 0.5633 Pathogenic 13_113917767_T->C 13 113917767 113917767 T C snp 1573.77 1/1 99 56 0 56 1.0 intronic rs4907602 CUL4A AU NM_003589 exon20 c.44506-33T>C 0.976238 1 0.977087 0.9934 1 Uncertain 13_113951722_C->T 13 113951722 113951722 C T snp 149.03 1/1 12 7 0 7 1.0 UTR5 rs7983578 LAMP1 AU 0.802915 0.8601 0.9847 1 Uncertain 13_113965176_C->A 13 113965176 113965176 C A snp 1925.77 1/1 99 76 0 76 1.0 exonic rs9577503 LAMP1 AU synonymous SNV NM_005561 exon4 c.C556A p.R186R 0.979233 1 0.980917 0.9916 1 Uncertain 13_113978969_G->A 13 113978969 113978969 G A snp 1613.77 1/1 99 61 0 61 1.0 intronic rs912010 GRTP1 AU NM_001286733 exon1 c.149+77G>A 0.980032 0.999 Uncertain 13_114018356_G->T 13 114018356 114018356 G T snp 548.77 0/1 99 32 13 19 0.59 exonic rs191965264 GRTP1 AU nonsynonymous SNV NM_001286732 exon1 c.C11A p.A4D 0.00479233 0.0238 0.0061 0.0513 0.04 T 1 N -0.981 T 0.004 T 0.003 T Pathogenic 13_114083316_C->T 13 114083316 114083316 C T snp 2148.77 0/1 99 185 97 88 0.48 exonic rs9635114 ADPRHL1 AU synonymous SNV NM_138430 exon4 c.G597A p.A199A 0.0513179 0.1627 0.006997 0.0356 0.1497 Uncertain 13_114098703_G->C 13 114098703 114098703 G C snp 531.77 0/1 99 44 20 24 0.55 intronic rs3814256 ADPRHL1 AU NM_199162 exon6 c.21603-36G>C 0.0151757 0.0714 0.000538 0.0061 0.0773 ID=COSN164576;OCCURENCE=1(breast) Uncertain 13_114201576_T->A 13 114201576 114201576 T A snp 1945.77 0/1 99 150 75 75 0.5 intronic rs12876871 TMCO3 AU NM_017905 exon11 c.51718-38T>A 0.23123 0.3909 0.181301 0.2625 0.4005 Uncertain 13_114240068_T->- 13 114240068 114240068 T - indel 37.73 0/1 75 28 21 7 0.25 intronic rs113638790 TFDP1 AU 0.48103 0.4464 Uncertain 13_114309226_G->A 13 114309226 114309226 G A snp 5171.77 1/1 99 191 0 191 1.0 exonic rs11164142 ATP4B AU synonymous SNV NM_000705 exon2 c.C144T p.Y48Y 0.473243 0.6032 0.390281 0.4760 0.6406 Uncertain 13_114312354_T->G 13 114312354 114312354 T G snp 1449.77 1/1 99 55 0 55 1.0 exonic rs9285616 ATP4B AU synonymous SNV NM_000705 exon1 c.A106C p.R36R 1 1 0.999923 0.9998 1 Uncertain 13_114312605_-->A 13 114312605 114312605 - A indel 446.73 1/1 36 13 0 13 1.0 upstream rs58459344 ATP4B AU 0.688299 0.7341 Uncertain 13_114312606_T->G 13 114312606 114312606 T G snp 274.8 1/1 21 10 0 10 1.0 upstream rs58758822 ATP4B AU 0.688299 0.7341 Uncertain 13_114322289_A->G 13 114322289 114322289 A G snp 2111.77 1/1 99 82 0 82 1.0 exonic rs9796035 GRK1 AU synonymous SNV NM_002929 exon1 c.A588G p.L196L 0.723642 0.6597 0.707922 0.6908 0.6747 Uncertain 13_114323997_T->C 13 114323997 114323997 T C snp 4164.77 1/1 99 155 0 155 1.0 splicing rs9796234 GRK1 AU NM_002929 exon2 c.2300-4T>C 0.48123 0.6349 0.411876 0.5289 0.6499 Pathogenic 13_114498034_G->A 13 114498034 114498034 G A snp 828.77 1/1 63 26 0 26 1.0 intronic rs9577895 TMEM255B AU NM_182614 exon4 c.35878-86G>A 0.540935 0.7986 Uncertain 13_114498362_T->C 13 114498362 114498362 T C snp 708.77 1/1 54 19 0 19 1.0 intronic rs28653123 TMEM255B AU NM_182614 exon4 c.35968+152T>C 0.793331 0.87 Uncertain 13_114502416_T->C 13 114502416 114502416 T C snp 2391.77 1/1 99 87 0 87 1.0 intronic rs7400029 TMEM255B AU NM_182614 exon5 c.40150+24T>C 0.709864 0.7361 0.658235 0.6381 0.7468 Uncertain 13_114503915_C->T 13 114503915 114503915 C T snp 3028.77 1/1 99 107 1 106 0.99 intronic rs9577890 TMEM255B AU NM_182614 exon6 c.41643+30C>T 0.620607 0.8611 0.6804 0.8793 Uncertain 13_114503916_A->G 13 114503916 114503916 A G snp 2992.77 1/1 99 106 1 105 0.99 intronic rs9577889 TMEM255B AU NM_182614 exon6 c.41643+31A>G 0.621805 0.8621 0.460300 0.6817 0.8794 Uncertain 13_114507836_A->G 13 114507836 114507836 A G snp 2710.77 1/1 99 102 0 102 1.0 intronic rs7323732 TMEM255B AU NM_182614 exon8 c.45615-21A>G 0.785942 0.8591 0.698400 0.7075 0.8548 Uncertain 13_114507840_G->A 13 114507840 114507840 G A snp 2696.77 1/1 99 101 0 101 1.0 intronic rs7332019 TMEM255B AU NM_182614 exon8 c.45615-17G>A 0.572883 0.8591 0.431636 0.5583 0.8553 Uncertain 13_114514918_T->A 13 114514918 114514918 T A snp 556.77 1/1 42 21 0 21 1.0 downstream rs34217684 TMEM255B AU 0.664537 0.8056 0.290596 0.4786 0.7225 Uncertain 13_114515003_C->T 13 114515003 114515003 C T snp 109.77 0/1 99 9 4 5 0.56 downstream TMEM255B AU Uncertain 13_114620051_C->T 13 114620051 114620051 C T snp 529.77 1/1 42 20 0 20 1.0 intronic rs11259844 LINC00452 AU NM_001278674 exon5 c.1074+134C>T 0.585663 0.7361 Uncertain 13_114623880_G->A 13 114623880 114623880 G A snp 7973.77 1/1 99 250 2 248 0.99 exonic rs7399982 LINC00452 AU nonsynonymous SNV NM_001278674 exon7 c.G718A p.V240M 0.804912 0.8175 0.7454 0.8165 Pathogenic 13_114751040_G->A 13 114751040 114751040 G A snp 590.77 0/1 99 34 14 20 0.59 intronic rs71449038 RASA3 AU NM_007368 exon2 c.2328-45G>A 0.273363 0.3413 0.290251 0.3398 0.3323 Uncertain 13_114751359_A->G 13 114751359 114751359 A G snp 591.77 1/1 45 18 0 18 1.0 intronic rs10781677 RASA3 AU NM_007368 exon2 c.2512+90A>G 0.648962 0.5962 Uncertain 13_114757947_C->T 13 114757947 114757947 C T snp 878.77 0/1 99 79 41 38 0.48 intronic rs3737051 RASA3 AU NM_007368 exon3 c.9203-13C>T 0.0169728 0.0546 0.000846 0.0103 0.0595 Uncertain 13_114758255_C->T 13 114758255 114758255 C T snp 133.03 1/1 12 4 0 4 1.0 intronic rs868520 RASA3 AU NM_007368 exon3 c.9307+191C>T 0.0169728 0.0546 Uncertain 13_114762198_C->T 13 114762198 114762198 C T snp 2242.77 0/1 99 211 118 93 0.44 exonic rs1106101 RASA3 AU synonymous SNV NM_007368 exon21 c.G1950A p.Q650Q 0.0167732 0.0536 0.000769 0.0102 0.0591 Uncertain 13_114765200_G->A 13 114765200 114765200 G A snp 371.77 0/1 99 28 14 14 0.5 intronic rs142178525 RASA3 AU NM_007368 exon5 c.16386+57G>A 0.0173722 0.0546 Uncertain 13_114772864_C->A 13 114772864 114772864 C A snp 34.77 0/1 63 5 3 2 0.4 intronic RASA3 AU NM_007368 exon7 c.24251-144C>A Uncertain 13_114772877_T->C 13 114772877 114772877 T C snp 200.77 0/1 60 8 2 6 0.75 intronic rs35040613 RASA3 AU NM_007368 exon7 c.24251-131T>C 0.483626 0.499 Uncertain 13_114772933_-->CC 13 114772933 114772933 - CC indel 881.73 0/1 99 32 10 22 0.69 intronic rs533440885 RASA3 AU NM_007368 exon7 c.24251-75insCC 0.259185 0.1994 Uncertain 13_114774813_C->T 13 114774813 114774813 C T snp 435.77 0/1 99 44 27 17 0.39 intronic rs6560943 RASA3 AU NM_007368 exon8 c.26105-49C>T 0.717252 0.6558 0.704430 0.6603 0.6717 Uncertain 13_114778593_C->T 13 114778593 114778593 C T snp 613.77 0/1 99 57 31 26 0.46 intronic rs7322518 RASA3 AU NM_007368 exon10 c.29860-24C>T 0.628994 0.6558 0.547377 0.5550 0.6895 Uncertain 13_114778859_-->TCTCCCTCTCTCTG 13 114778859 114778859 - TCTCCCTCTCTCTG indel 388.73 0/1 99 17 5 12 0.71 intronic rs146849472 RASA3 AU NM_007368 exon10 c.29967+135insTCTCCCTCTCTCTG Uncertain 13_114780648_A->C 13 114780648 114780648 A C snp 1780.77 0/1 99 162 82 80 0.49 intronic rs2274719 RASA3 AU NM_007368 exon11 c.31927-36A>C 0.725839 0.6558 0.708288 0.6621 0.6714 Uncertain 13_114780649_G->A 13 114780649 114780649 G A snp 1693.77 0/1 99 162 84 78 0.48 intronic rs183286948 RASA3 AU NM_007368 exon11 c.31927-35G>A 0.0267572 0.0546 0.0131 0.0591 Uncertain 13_114780764_A->G 13 114780764 114780764 A G snp 2008.77 0/1 99 170 89 81 0.48 exonic rs2274717 RASA3 AU synonymous SNV NM_007368 exon14 c.T1326C p.T442T 0.725839 0.6558 0.709826 0.6624 0.6714 Uncertain 13_114780857_T->C 13 114780857 114780857 T C snp 771.77 0/1 99 59 31 28 0.47 intronic rs201514030 RASA3 AU NM_007368 exon11 c.32051+49T>C 0.00139776 0.006 0.0005 0.0065 Uncertain 13_114783444_A->G 13 114783444 114783444 A G snp 114.77 0/1 56 6 2 4 0.67 intronic rs7986543 RASA3 AU NM_007368 exon14 c.34822-135A>G 0.736222 0.6567 Uncertain 13_114787031_T->G 13 114787031 114787031 T G snp 965.77 0/1 99 79 41 38 0.48 intronic rs2274713 RASA3 AU NM_007368 exon16 c.38227+47T>G 0.725639 0.6558 0.709231 0.6644 0.6753 Uncertain 13_114792842_C->T 13 114792842 114792842 C T snp 2019.77 0/1 99 182 100 82 0.45 intronic rs3829340 RASA3 AU NM_007368 exon18 c.44107-22C>T 0.71905 0.6597 0.703707 0.6618 0.6729 Uncertain 13_114793122_C->T 13 114793122 114793122 C T snp 208.77 0/1 99 26 16 10 0.38 intronic rs76712699 RASA3 AU NM_007368 exon18 c.44180+185C>T 0.0171725 0.0546 Uncertain 13_114795063_G->A 13 114795063 114795063 G A snp 203.8 0/1 21 7 1 6 0.86 intronic rs61973873 RASA3 AU NM_007368 exon20 c.46529-223G>A 0.570687 0.6161 Uncertain 13_114795065_C->T 13 114795065 114795065 C T snp 193.8 0/1 21 7 1 6 0.86 intronic rs61973874 RASA3 AU NM_007368 exon20 c.46529-221C>T 0.674521 0.625 Uncertain 13_114795074_G->- 13 114795074 114795074 G - indel 172.84 0/1 16 7 1 6 0.86 intronic rs36168071 RASA3 AU NM_007368 exon20 c.46529-212delG 0.414137 0.4187 Uncertain 13_114795094_T->C 13 114795094 114795094 T C snp 289.77 0/1 99 18 9 9 0.5 intronic rs35204974 RASA3 AU NM_007368 exon20 c.46529-192T>C 0.688299 0.6558 Uncertain 13_114795095_G->A 13 114795095 114795095 G A snp 298.77 0/1 99 18 9 9 0.5 intronic rs542498980 RASA3 AU NM_007368 exon20 c.46529-191G>A 0.0169728 0.0546 Uncertain 13_114795097_C->T 13 114795097 114795097 C T snp 295.77 0/1 99 19 10 9 0.47 intronic rs562210686 RASA3 AU NM_007368 exon20 c.46529-189C>T 0.0169728 0.0546 Uncertain 13_114795107_GT->- 13 114795107 114795108 GT - indel 586.73 0/1 99 31 17 14 0.45 intronic rs201955837 RASA3 AU NM_007368 exon20 c.46529-179_46529-178delGT Uncertain 13_115000465_T->C 13 115000465 115000465 T C snp 249.77 0/1 99 22 13 9 0.41 UTR5 rs61973461 CDC16 AU 0.374601 0.1587 Uncertain 13_115000719_G->A 13 115000719 115000719 G A snp 495.77 0/1 99 33 13 20 0.61 intronic rs7331882 CDC16 AU NM_003903 exon1 c.48+112G>A 0.371406 0.1607 Uncertain 13_115002305_G->A 13 115002305 115002305 G A snp 1282.77 0/1 99 100 43 57 0.57 exonic rs8002514 CDC16 AU synonymous SNV NM_001078645 exon3 c.G135A p.Q45Q 0.341653 0.1587 0.328156 0.2685 0.1534 Uncertain 13_115004566_A->T 13 115004566 115004566 A T snp 581.77 0/1 99 45 23 22 0.49 intronic rs17337842 CDC16 AU NM_003903 exon4 c.3944+63A>T 0.0846645 0.0595 Uncertain 13_115004802_C->T 13 115004802 115004802 C T snp 2137.77 0/1 99 209 110 99 0.47 intronic rs17291062 CDC16 AU NM_003903 exon5 c.4265-22C>T 0.0259585 0.0556 0.003767 0.0252 0.0596 Uncertain 13_115004914_C->T 13 115004914 115004914 C T snp 1650.77 0/1 99 137 66 71 0.52 exonic rs2296971 CDC16 AU synonymous SNV NM_001078645 exon5 c.C330T p.D110D 0.444289 0.2024 0.442104 0.3299 0.1881 Uncertain 13_115004935_T->C 13 115004935 115004935 T C snp 1278.77 0/1 99 106 51 55 0.52 exonic rs2296970 CDC16 AU synonymous SNV NM_001078645 exon5 c.T351C p.P117P 0.441693 0.2024 0.439336 0.3295 0.1879 Uncertain 13_115007828_C->G 13 115007828 115007828 C G snp 925.77 0/1 99 55 25 30 0.55 intronic rs17337926 CDC16 AU NM_003903 exon6 c.7196+73C>G 0.0257588 0.0556 0.0243 0.0607 Uncertain 13_115009384_G->A 13 115009384 115009384 G A snp 747.77 0/1 99 58 27 31 0.53 exonic rs17291173 CDC16 AU synonymous SNV NM_001078645 exon8 c.G687A p.E229E 0.0255591 0.0546 0.001076 0.0226 0.0586 Uncertain 13_115010041_A->G 13 115010041 115010041 A G snp 315.77 0/1 99 30 14 16 0.53 intronic rs12585785 CDC16 AU NM_003903 exon9 c.9805-323A>G 0.0255591 0.0546 0.0769 . Uncertain 13_115010330_G->T 13 115010330 115010330 G T snp 2955.77 0/1 99 240 109 131 0.55 intronic rs2039092 CDC16 AU NM_003903 exon9 c.9805-34G>T 0.292332 0.1071 0.278487 0.1959 0.1051 Uncertain 13_115015966_-->A 13 115015966 115015966 - A indel 71.84 0/1 16 9 2 7 0.78 intronic rs59513608 CDC16 AU NM_003903 exon12 c.15464-57insA Uncertain 13_115016215_A->G 13 115016215 115016215 A G snp 1210.77 0/1 99 85 36 49 0.58 intronic rs12583993 CDC16 AU NM_003903 exon12 c.15590+66A>G 0.0253594 0.0536 Uncertain 13_115027462_T->A 13 115027462 115027462 T A snp 608.77 0/1 99 40 16 24 0.6 intronic rs7985356 CDC16 AU NM_003903 exon15 c.26864+39T>A 0.369409 0.1567 0.353529 0.2756 0.1538 Uncertain 13_115027516_A->G 13 115027516 115027516 A G snp 36.77 0/1 65 11 7 4 0.36 intronic rs12430336 CDC16 AU NM_003903 exon15 c.26864+93A>G 0.175319 0.38 Uncertain 13_115028551_A->G 13 115028551 115028551 A G snp 618.77 0/1 99 65 39 26 0.4 intronic rs17338263 CDC16 AU NM_003903 exon16 c.27930+62A>G 0.0255591 0.0546 Uncertain 13_115030714_T->C 13 115030714 115030714 T C snp 1531.77 0/1 99 163 91 72 0.44 exonic rs8809 CDC16 AU synonymous SNV NM_001078645 exon17 c.T1602C p.I534I 0.369409 0.1567 0.354221 0.2748 0.1534 Uncertain 13_115037613_G->A 13 115037613 115037613 G A snp 171.9 1/1 15 5 0 5 1.0 intronic rs2274638 CDC16 AU NM_003903 exon18 c.37099-45G>A 0.553514 0.5367 0.418696 0.3929 0.4946 Uncertain 13_115039281_A->T 13 115039281 115039281 A T snp 194.77 0/1 99 17 8 9 0.53 upstream rs7994957 MIR4502 AU 0.192891 0.379 0 . Uncertain 13_115039449_AGAT->- 13 115039449 115039452 AGAT - indel 952.73 0/1 99 22 8 14 0.64 downstream rs17291689 MIR4502 AU 0.121406 0.3353 Uncertain 13_115047653_G->T 13 115047653 115047653 G T snp 2896.77 0/1 99 250 131 119 0.48 intronic rs117457594 UPF3A AU NM_080687 exon2 c.488+51G>T 0.0255591 0.0546 0.0060 0.0796 Uncertain 13_115047700_A->T 13 115047700 115047700 A T snp 6868.77 1/1 99 243 0 243 1.0 intronic rs9590410 UPF3A AU NM_080687 exon2 c.488+98A>T 0.732228 0.7569 Uncertain 13_115052131_T->C 13 115052131 115052131 T C snp 938.77 0/1 99 106 64 42 0.4 intronic rs76380611 UPF3A AU NM_080687 exon4 c.4990+27T>C 0.0255591 0.0546 0.001153 0.0240 0.0638 Uncertain 13_115064542_T->C 13 115064542 115064542 T C snp 5409.77 1/1 99 199 0 199 1.0 intronic rs2701318 UPF3A AU NM_080687 exon7 c.17361+67T>C 0.683906 0.7044 Uncertain 13_115067600_C->T 13 115067600 115067600 C T snp 343.77 0/1 99 27 13 14 0.52 intronic rs117263304 UPF3A AU NM_080687 exon8 c.20386+100C>T 0.0255591 0.0556 Uncertain 13_115090019_G->A 13 115090019 115090019 G A snp 2874.77 0/1 99 250 139 111 0.44 exonic CHAMP1 AD synonymous SNV NM_001164144 exon3 c.G702A p.P234P 0.196486 0.1062 0.143165 0.1252 0.1088 Uncertain 13_115090136_T->C 13 115090136 115090136 T C snp 3294.77 0/1 99 250 135 115 0.46 exonic CHAMP1 AD synonymous SNV NM_001164144 exon3 c.T819C p.T273T 0.0261581 0.0546 0.001000 0.0221 0.0590 Uncertain 13_115090193_G->A 13 115090193 115090193 G A snp 3117.77 0/1 99 250 129 121 0.48 exonic CHAMP1 AD synonymous SNV NM_001164144 exon3 c.G876A p.P292P 0.120407 0.1062 0.083269 0.0990 0.1069 Uncertain 13_115090931_C->T 13 115090931 115090931 C T snp 1622.77 0/1 99 172 98 74 0.43 exonic CHAMP1 AD synonymous SNV NM_001164144 exon3 c.C1614T p.A538A 0.0253594 0.0546 0.000769 0.0220 0.0592 Uncertain 13_115091399_T->C 13 115091399 115091399 T C snp 1104.77 0/1 99 107 60 47 0.44 exonic CHAMP1 AD synonymous SNV NM_001164144 exon3 c.T2082C p.S694S 0.121006 0.1062 0.083807 0.0995 0.1077 Uncertain 14_19889910_G->T 14 19889910 19889910 G T snp 175.77 0/1 99 15 8 7 0.47 ncRNA_intronic rs114693680 LINC01296 AU Uncertain 14_20201972_A->C 14 20201972 20201972 A C snp 1549.77 0/1 99 198 132 66 0.33 intergenic rs4391979 OR11H2 AU 0.714856 0.7758 Uncertain 14_20202040_T->A 14 20202040 20202040 T A snp 3596.77 0/1 99 166 53 113 0.68 intergenic rs8011997 OR11H2 AU 0.838458 0.8224 Uncertain 14_20216298_T->C 14 20216298 20216298 T C snp 2016.77 0/1 99 250 173 77 0.31 exonic rs12896533 OR4Q3 AU nonsynonymous SNV NM_172194 exon1 c.T712C p.F238L 0.709864 0.7768 0.674765 0.7286 0.7671 1 T 0.000 P -0.956 T 0.0 T 0.0 T ID=CM141903;DIS=Altered receptor function;TAG=FP;PUB=24316890 FP Pathogenic 14_20227924_A->G 14 20227924 20227924 A G snp 114.78 0/1 27 5 1 4 0.8 intergenic rs7151620 OR4Q3 AU 0.827077 0.8105 Uncertain 14_20228250_C->A 14 20228250 20228250 C A snp 458.77 0/1 99 250 189 61 0.24 intergenic rs61976671 OR4Q3 AU Uncertain 14_20228302_G->A 14 20228302 20228302 G A snp 1237.77 0/1 99 250 194 56 0.22 intergenic rs7148334 OR4Q3 AU Uncertain 14_20228335_G->C 14 20228335 20228335 G C snp 175.77 0/1 99 250 220 30 0.12 intergenic rs762065701 OR4Q3 AU Uncertain 14_20228864_A->T 14 20228864 20228864 A T snp 1160.77 0/1 99 143 94 49 0.34 intergenic rs4601962 OR4Q3 AU 0.117812 0.0397 Uncertain 14_20265369_C->G 14 20265369 20265369 C G snp 1234.77 0/1 99 149 97 52 0.35 intergenic rs2489769 OR4M1 AU 0.161142 0.1667 Uncertain 14_20389606_G->A 14 20389606 20389606 G A snp 4909.77 0/1 99 250 80 170 0.68 exonic rs77615110 OR4K5 AU nonsynonymous SNV NM_001005483 exon1 c.G841A p.V281I 0.138978 0.4722 0.031139 0.0724 0.4591 0.31 T 0.0 P -0.921 T 0.0 T 0.0 T Pathogenic 14_20389721_G->A 14 20389721 20389721 G A snp 3629.77 0/1 99 196 59 137 0.7 exonic rs17242341 OR4K5 AU nonsynonymous SNV NM_001005483 exon1 c.G956A p.R319K 0.138578 0.4752 0.024471 0.0723 0.4584 0.09 T 0.0 P -0.982 T 0.462 P 0.091 P Pathogenic 14_20403703_T->C 14 20403703 20403703 T C snp 89.77 0/1 99 13 9 4 0.31 upstream rs8015196 OR4K1 AU 0.270767 0.1786 Uncertain 14_20404238_G->A 14 20404238 20404238 G A snp 5366.77 0/1 99 250 67 183 0.73 exonic rs3916626 OR4K1 AU nonsynonymous SNV NM_001004063 exon1 c.G413A p.R138Q 0.157548 0.4831 0.035676 0.0887 0.4825 0.56 T 0.0 P -1.053 T 0.0 T 0.001 T Pathogenic 14_20404736_G->A 14 20404736 20404736 G A snp 4581.77 0/1 99 250 76 174 0.7 exonic rs2792146 OR4K1 AU nonsynonymous SNV NM_001004063 exon1 c.G911A p.R304H 0.429513 0.6101 0.369599 0.4454 0.6172 0.22 T 0.0 P -0.936 T 0.003 T 0.001 T Pathogenic 14_20404767_A->G 14 20404767 20404767 A G snp 4395.77 0/1 99 242 75 167 0.69 UTR3 rs2792145 OR4K1 AU 0.393171 0.6121 0.331770 0.4372 0.6174 Uncertain 14_20404874_C->T 14 20404874 20404874 C T snp 1208.77 0/1 99 57 20 37 0.65 downstream rs2792144 OR4K1 AU 0.393171 0.6111 Uncertain 14_20444490_C->T 14 20444490 20444490 C T snp 7289.77 1/1 99 248 0 248 1.0 exonic rs11158071 OR4K15 AU synonymous SNV NM_001005486 exon1 c.C813T p.V271V 0.566494 0.8323 0.511535 0.6478 0.8376 Uncertain 14_20470317_A->G 14 20470317 20470317 A G snp 4688.77 1/1 99 155 0 155 1.0 intergenic rs12893791 OR4K15 AU 0.561701 0.748 0.5978 0.7778 Uncertain 14_20470737_G->A 14 20470737 20470737 G A snp 7779.77 1/1 99 250 1 249 1.0 intergenic rs12587697 OR4K15 AU 0.314097 0.627 0.3073 0.6 Uncertain 14_20470853_T->- 14 20470853 20470853 T - indel 7956.73 1/1 99 250 1 249 1.0 intergenic rs34315947 OR4K15 AU 0.576478 0.7431 0.4340 0.7357 Uncertain 14_20470903_T->C 14 20470903 20470903 T C snp 8010.77 1/1 99 249 0 249 1.0 intergenic rs12586792 OR4K15 AU 0.290136 0.6071 0.2373 0.625 Uncertain 14_20482471_C->T 14 20482471 20482471 C T snp 4318.77 1/1 99 158 1 157 0.99 exonic rs12590785 OR4K14 AU synonymous SNV NM_001004712 exon1 c.G882A p.E294E 0.752596 0.9881 0.718438 0.8188 0.9828 Uncertain 14_20501962_G->C 14 20501962 20501962 G C snp 97.28 1/1 9 5 0 5 1.0 downstream rs2775261 OR4K13 AU 0.839657 0.9504 0.867649 0.9099 0.9662 Uncertain 14_20502120_C->T 14 20502120 20502120 C T snp 2368.77 1/1 99 82 0 82 1.0 exonic rs17277032 OR4K13 AU synonymous SNV NM_001004714 exon1 c.G798A p.S266S 0.265974 0.255 0.389897 0.4053 0.2491 Uncertain 14_20528207_G->A 14 20528207 20528207 G A snp 772.77 0/1 99 59 31 28 0.47 exonic rs1958715 OR4L1 AU nonsynonymous SNV NM_001004717 exon1 c.G4A p.D2N 0.536741 0.5734 0.430867 0.4584 0.5846 0.34 T 0.028 P -1.027 T 0.002 T 0.005 T Pathogenic 14_20528321_A->G 14 20528321 20528321 A G snp 2182.77 0/1 99 207 114 93 0.45 exonic rs1958716 OR4L1 AU nonsynonymous SNV NM_001004717 exon1 c.A118G p.M40V 0.536741 0.5734 0.432031 0.4708 0.5850 0.27 T 0.0 P -1.085 T 0.0 T 0.0 T Pathogenic 14_20528359_G->T 14 20528359 20528359 G T snp 7054.77 1/1 99 250 0 250 1.0 exonic rs1959630 OR4L1 AU nonsynonymous SNV NM_001004717 exon1 c.G156T p.R52S 0.971246 1 0.971705 0.9918 1 0.28 T 0.0 P -0.989 T 0.0 T 0.0 T Pathogenic 14_20528362_A->G 14 20528362 20528362 A G snp 2619.77 0/1 99 250 141 109 0.44 exonic rs1958717 OR4L1 AU synonymous SNV NM_001004717 exon1 c.A159G p.S53S 0.538538 0.5734 0.436952 0.4708 0.5843 Uncertain 14_20528449_CATAGATTTGCTCACTGAC->- 14 20528449 20528467 CATAGATTTGCTCACTGAC - indel 19158.7 0/1 99 245 140 105 0.43 exonic rs112192573 OR4L1 AU frameshift deletion NM_001004717 exon1 c.246_264del p.I82fs 0.532149 0.5734 0.409731 0.4485 0.5497 ID=COSM128642;OCCURENCE=2(upper_aerodigestive_tract),1(breast),2(large_intestine),2(pancreas),1(liver) Pathogenic 14_20528505_T->A 14 20528505 20528505 T A snp 2493.77 0/1 99 230 123 107 0.47 exonic rs2775253 OR4L1 AU nonsynonymous SNV NM_001004717 exon1 c.T302A p.M101K 0.426318 0.5357 0.332846 0.3654 0.5328 0 D 0.823 P -0.932 T 0.929 T 0.598 D Pathogenic 14_20528528_G->A 14 20528528 20528528 G A snp 2057.77 0/1 99 202 112 90 0.45 exonic rs2775254 OR4L1 AU nonsynonymous SNV NM_001004717 exon1 c.G325A p.G109S 0.426118 0.5347 0.333615 0.3675 0.5346 0.01 T 0.000 P -0.908 T 0.976 D 0.608 D Pathogenic 14_20529019_C->T 14 20529019 20529019 C T snp 1019.77 0/1 99 104 59 45 0.43 exonic rs1959629 OR4L1 AU synonymous SNV NM_001004717 exon1 c.C816T p.A272A 0.43151 0.5357 0.340689 0.3761 0.5372 Uncertain 14_20529043_C->G 14 20529043 20529043 C G snp 658.77 0/1 99 84 53 31 0.37 exonic rs1959628 OR4L1 AU synonymous SNV NM_001004717 exon1 c.C840G p.P280P 0.428514 0.5357 0.335461 0.3736 0.5374 Uncertain 14_20529177_C->T 14 20529177 20529177 C T snp 181.77 0/1 99 26 16 10 0.38 downstream rs1959627 OR4L1 AU 0.439896 0.5357 0.340225 0.3682 0.5348 Uncertain 14_20586042_G->C 14 20586042 20586042 G C snp 7330.77 1/1 99 250 0 250 1.0 exonic rs8005245 OR4K17 AU nonsynonymous SNV NM_001004715 exon1 c.G477C p.K159N 0.427516 0.5437 0.398355 0.4258 0.5671 0.01 T 0.026 P -1.065 T 0.997 D 0.928 D Pathogenic 14_20586432_C->T 14 20586432 20586432 C T snp 5787.77 1/1 99 213 0 213 1.0 exonic rs9323534 OR4K17 AU synonymous SNV NM_001004715 exon1 c.C867T p.Y289Y 0.473043 0.5823 0.431109 0.4540 0.5997 Uncertain 14_20586650_C->A 14 20586650 20586650 C A snp 135.03 1/1 12 4 0 4 1.0 downstream rs10140123 OR4K17 AU 0.473243 0.5823 Uncertain 14_20641788_A->T 14 20641788 20641788 A T snp 294.78 1/1 24 8 0 8 1.0 intergenic rs9323622 OR4N5 AU 0.569289 0.5843 Uncertain 14_20642034_A->T 14 20642034 20642034 A T snp 1987.77 1/1 99 69 0 69 1.0 intergenic rs7143334 OR4N5 AU 0.56849 0.5833 Uncertain 14_20666175_-->A 14 20666175 20666175 - A indel 3003.73 0/1 99 250 130 120 0.48 exonic rs398077614 OR11G2 AU frameshift insertion NM_001005503 exon1 c.682dupA p.C227fs 0.694808 0.6774 0.5072 ID=COSM112052;OCCURENCE=1(ovary) Pathogenic 14_20666623_T->C 14 20666623 20666623 T C snp 54.74 1/1 6 2 0 2 1.0 downstream rs2318887 OR11G2 AU 0.501797 0.5972 Uncertain 14_20760066_T->A 14 20760066 20760066 T A snp 207.77 0/1 99 14 4 10 0.71 intronic rs1953549 TTC5 AU NM_138376 exon2 c.2356-75T>A 0.397963 0.4772 Uncertain 14_20763446_T->C 14 20763446 20763446 T C snp 3862.77 1/1 99 136 0 136 1.0 intronic rs1953551 TTC5 AU NM_138376 exon3 c.5685-24T>C 0.93151 0.9137 0.953560 0.9276 0.9082 Uncertain 14_20764585_A->C 14 20764585 20764585 A C snp 1734.77 0/1 99 124 50 74 0.6 exonic rs1953552 TTC5 AU synonymous SNV NM_138376 exon6 c.T660G p.A220A 0.401158 0.4772 0.421652 0.4585 0.4829 1.0 P -0.923 T Likely benign 14_20767618_G->A 14 20767618 20767618 G A snp 3431.77 1/1 99 130 0 130 1.0 intronic rs2318864 TTC5 AU NM_138376 exon7 c.9822+11G>A 0.729433 0.7907 0.751499 0.7278 0.7962 Uncertain 14_20767706_C->T 14 20767706 20767706 C T snp 1534.77 1/1 99 55 0 55 1.0 intronic rs945459 TTC5 AU NM_138376 exon7 c.9822+99C>T 0.6875 0.7927 Uncertain 14_20769870_G->A 14 20769870 20769870 G A snp 504.77 1/1 39 15 0 15 1.0 intronic rs3825766 TTC5 AU NM_138376 exon9 c.12206-121G>A 0.76238 0.7956 Uncertain 14_20770036_T->C 14 20770036 20770036 T C snp 2704.77 1/1 99 100 0 100 1.0 exonic rs3742945 TTC5 AU nonsynonymous SNV NM_138376 exon2 c.A140G p.Q47R 0.745607 0.7956 0.737198 0.7368 0.8004 0.78 T 0.0 P -1.008 T 0.0 T 0.0 T Pathogenic 14_20770110_C->T 14 20770110 20770110 C T snp 1286.77 0/1 99 107 53 54 0.5 exonic rs3742944 TTC5 AU synonymous SNV NM_138376 exon2 c.G66A p.Q22Q 0.00299521 0.0149 0.000077 0.0017 0.0237 1 D -0.996 T Likely benign 14_20784117_A->G 14 20784117 20784117 A G snp 496.77 0/1 99 47 23 24 0.51 intronic rs12889262 CCNB1IP1 AU NM_182852 exon3 c.4677-268A>G 0.404353 0.4663 Uncertain 14_20784718_G->T 14 20784718 20784718 G T snp 92.77 0/1 99 25 19 6 0.24 UTR5 rs1132644 CCNB1IP1 AU 0.595647 0.5337 0.571198 0.5485 0.5363 0.001 P -0.988 T Uncertain 14_20814865_A->G 14 20814865 20814865 A G snp 443.77 0/1 99 40 23 17 0.42 intronic rs79030532 PARP2 AU NM_005484 exon4 c.3221-156A>G 0.0828674 0.129 Uncertain 14_20824181_T->C 14 20824181 20824181 T C snp 4405.77 1/1 99 164 2 162 0.99 exonic rs3093930 PARP2 AU synonymous SNV NM_005484 exon11 c.T1131C p.Y377Y 0.510583 0.6002 0.570917 0.6122 0.6339 1.000 P Uncertain 14_20824415_G->T 14 20824415 20824415 G T snp 1188.77 0/1 99 91 43 48 0.53 intronic rs3093933 PARP2 AU NM_005484 exon12 c.12665-50G>T 0.222244 0.2579 0.198575 0.2488 0.2711 Uncertain 14_20825013_C->T 14 20825013 20825013 C T snp 147.77 0/1 99 11 6 5 0.45 intronic rs878157 PARP2 AU NM_005484 exon13 c.13048+165C>T 0.228035 0.2629 Uncertain 14_20825321_-->TTCAC 14 20825321 20825321 - TTCAC indel 4371.73 0/1 99 115 54 61 0.53 intronic rs10625811 PARP2 AU NM_005484 exon14 c.13508+13insTTCAC 0.223670 0.2710 0.2716 Uncertain 14_20825323_T->G 14 20825323 20825323 T G snp 1220.77 0/1 99 103 55 48 0.47 intronic rs200223594 PARP2 AU NM_005484 exon14 c.13508+15T>G 0.249201 0.2639 0.2712 0.2720 Uncertain 14_20825362_G->A 14 20825362 20825362 G A snp 914.77 0/1 99 62 26 36 0.58 intronic rs3093939 PARP2 AU NM_005484 exon14 c.13508+54G>A 0.232827 0.2639 0.2734 0.2808 Uncertain 14_20825965_A->C 14 20825965 20825965 A C snp 903.77 0/1 99 64 33 31 0.48 UTR3 rs2700 PARP2 AU 0.23722 0.2708 0.232493 0.2799 0.2782 Uncertain 14_20836925_A->G 14 20836925 20836925 A G snp 220.77 0/1 99 17 7 10 0.59 intronic rs56321004 TEP1 AU NM_007110 exon2 c.361-31A>G 0.014976 0.0248 0.0613 0.1121 Uncertain 14_20846521_A->T 14 20846521 20846521 A T snp 3051.77 0/1 99 250 126 124 0.5 intronic rs2297615 TEP1 AU NM_007110 exon18 c.9943-17A>T 0.261581 0.1905 0.282793 0.2552 0.2215 Uncertain 14_20851840_A->G 14 20851840 20851840 A G snp 2402.77 0/1 99 159 67 92 0.58 intronic rs2297614 TEP1 AU NM_007110 exon30 c.15208+37A>G 0.413538 0.4107 0.4540 0.5267 Uncertain 14_20852029_A->G 14 20852029 20852029 A G snp 3390.77 0/1 99 250 119 131 0.52 exonic rs1760904 TEP1 AU nonsynonymous SNV NM_007110 exon25 c.T3583C p.S1195P 0.691294 0.6181 0.613409 0.5627 0.6303 0.76 T 0.002 P -0.968 T 0.0 T 0.0 T Pathogenic 14_20852817_G->A 14 20852817 20852817 G A snp 1223.77 0/1 99 133 77 56 0.42 exonic rs1760903 TEP1 AU nonsynonymous SNV NM_007110 exon22 c.C3163T p.R1055C 0.633387 0.6121 0.550976 0.5323 0.6294 0.06 T 0.0 P -0.950 T 0.987 D 0.555 D Pathogenic 14_20854734_A->G 14 20854734 20854734 A G snp 1619.77 1/1 99 63 0 63 1.0 exonic rs945011 TEP1 AU synonymous SNV NM_007110 exon19 c.T2733C p.H911H 0.995807 1 0.992157 0.9918 0.9998 Uncertain 14_20860073_G->A 14 20860073 20860073 G A snp 156.78 0/1 24 6 1 5 0.83 intronic rs1713423 TEP1 AU NM_007110 exon43 c.23331+147G>A 0.615615 0.6071 Uncertain 14_20863811_G->A 14 20863811 20863811 G A snp 1785.77 0/1 99 122 47 75 0.61 intronic rs1713417 TEP1 AU NM_007110 exon44 c.27191+25G>A 0.205072 0.3482 0.117869 0.1372 0.3442 Uncertain 14_20872740_G->A 14 20872740 20872740 G A snp 1187.77 0/1 99 104 56 48 0.46 intronic rs2275009 TEP1 AU NM_007110 exon51 c.36174-29G>A 0.213858 0.3194 0.135937 0.1604 0.3280 Uncertain 14_20872881_G->T 14 20872881 20872881 G T snp 1248.77 0/1 99 92 44 48 0.52 exonic rs1760898 TEP1 AU nonsynonymous SNV NM_007110 exon5 c.C921A p.N307K 0.364816 0.4167 0.296325 0.2872 0.4372 0.69 T 0.0 P -0.926 T 0.0 T 0.0 T Pathogenic 14_20896828_T->C 14 20896828 20896828 T C snp 32.77 0/1 61 7 5 2 0.29 downstream rs7154662 KLHL33 AU 0.655551 0.5992 Uncertain 14_20896857_C->T 14 20896857 20896857 C T snp 275.77 0/1 99 21 12 9 0.43 downstream rs7140768 KLHL33 AU 0.591853 0.5982 Uncertain 14_20897064_C->T 14 20897064 20897064 C T snp 2308.77 0/1 99 198 97 101 0.51 exonic rs7145318 KLHL33 AU nonsynonymous SNV NM_001109997 exon4 c.G1546A p.A516T 0.645367 0.5972 0.618484 0.6313 0.6286 1 T 0.0 P -0.960 T 0.001 T 0.0 T Pathogenic 14_20897676_T->C 14 20897676 20897676 T C snp 1499.77 0/1 99 149 85 64 0.43 exonic rs1953225 KLHL33 AU nonsynonymous SNV NM_001109997 exon3 c.A1034G p.E345G 0.259185 0.2718 0.230618 0.2144 0.2580 0.05 T 0.0 P -1.091 T 0.018 T 0.023 T Pathogenic 14_20903349_T->C 14 20903349 20903349 T C snp 4531.77 1/1 99 150 0 150 1.0 intronic rs1713408 KLHL33 AU NM_001109997 exon4 c.6615-273T>C 0.992013 0.999 Uncertain 14_20903778_G->A 14 20903778 20903778 G A snp 2183.77 0/1 99 210 117 93 0.44 UTR5 rs8017682 KLHL33 AU 0.129792 0.1845 Uncertain 14_20903906_C->T 14 20903906 20903906 C T snp 1388.77 0/1 99 129 71 58 0.45 upstream rs8017603 KLHL33 AU 0.450679 0.377 Uncertain 14_20916958_T->C 14 20916958 20916958 T C snp 2340.77 1/1 99 85 0 85 1.0 exonic rs938883 OSGEP AU synonymous SNV NM_017807 exon6 c.A570G p.L190L 0.495607 0.4276 0.557435 0.5355 0.4261 Uncertain 14_20916987_G->A 14 20916987 20916987 G A snp 749.77 0/1 99 70 38 32 0.46 intronic rs938882 OSGEP AU NM_017807 exon6 c.1572+17G>A 0.433506 0.2698 0.527910 0.5073 0.2679 Uncertain 14_20917442_A->T 14 20917442 20917442 A T snp 2539.77 1/1 99 101 0 101 1.0 intronic rs938881 OSGEP AU NM_017807 exon8 c.2027+17A>T 0.546126 0.4514 0.605028 0.5757 0.4488 Uncertain 14_20919623_T->C 14 20919623 20919623 T C snp 151.03 1/1 12 8 0 8 1.0 intronic rs3120067 OSGEP AU NM_017807 exon9 c.4734-509T>C 0.552516 0.4514 0.5 . Uncertain 14_20919667_C->T 14 20919667 20919667 C T snp 106.28 1/1 9 6 0 6 1.0 intronic rs3120066 OSGEP AU NM_017807 exon9 c.4734-465C>T 0.551118 0.4514 Uncertain 14_20919712_C->T 14 20919712 20919712 C T snp 104.28 1/1 9 5 0 5 1.0 intronic rs3120065 OSGEP AU NM_017807 exon9 c.4734-420C>T 0.552915 0.4514 Uncertain 14_20920043_C->T 14 20920043 20920043 C T snp 166.9 1/1 15 6 0 6 1.0 intronic rs1320150 OSGEP AU NM_017807 exon9 c.4734-89C>T 0.54972 0.4514 Uncertain 14_20920250_T->C 14 20920250 20920250 T C snp 818.77 1/1 60 30 0 30 1.0 exonic rs2275007 OSGEP AU synonymous SNV NM_017807 exon3 c.A294G p.Q98Q 0.553115 0.4514 0.604952 0.5802 0.4460 Uncertain 14_20920340_A->G 14 20920340 20920340 A G snp 718.77 1/1 51 32 0 32 1.0 intronic rs2275006 OSGEP AU NM_017807 exon9 c.4910+32A>G 0.554712 0.4524 0.608488 0.5827 0.4475 Uncertain 14_20920360_-->G 14 20920360 20920360 - G indel 1138.73 1/1 84 28 0 28 1.0 intronic rs3215948 OSGEP AU NM_017807 exon9 c.4910+52insG 0.552516 0.4514 0.604792 0.5782 0.4456 Uncertain 14_20920749_C->G 14 20920749 20920749 C G snp 477.77 1/1 36 15 0 15 1.0 intronic rs1878703 OSGEP AU NM_017807 exon10 c.5209+142C>G 0.554513 0.4524 Uncertain 14_20925154_T->G 14 20925154 20925154 T G snp 4702.77 1/1 99 171 0 171 1.0 exonic rs1130409 APEX1 AU nonsynonymous SNV NM_001641 exon5 c.T444G p.D148E 0.375599 0.4058 0.435568 0.4280 0.4123 1 T 1.0 P -1.027 T 0.0 T 0.0 T ID=CM063843;DIS=Amyotrophic lateral sclerosis, association with;TAG=DFP;PUB=10371543 DFP Pathogenic 14_20927267_C->T 14 20927267 20927267 C T snp 96.28 1/1 9 3 0 3 1.0 intronic rs74533796 TMEM55B AU NM_144568 exon2 c.647-97C>T 0.221645 0.5218 Uncertain 14_20928359_C->A 14 20928359 20928359 C A snp 913.77 0/1 99 49 14 35 0.71 exonic rs35567022 TMEM55B AU synonymous SNV NM_001100814 exon3 c.G453T p.R151R 0.135982 0.4187 0.057435 0.0842 0.4281 Uncertain 14_20940606_G->A 14 20940606 20940606 G A snp 1520.77 0/1 99 118 53 65 0.55 exonic rs1049564 PNP AR nonsynonymous SNV NM_000270 exon2 c.G151A p.G51S 0.204673 0.2063 0.200292 0.1920 0.1985 1 T 0.000 P -0.983 T 0.0 T 0.001 T CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=NUCLEOSIDE_PHOSPHORYLASE_POLYMORPHISM|not_provided;CLNREVSTAT=no_assertion_criteria_provided|criteria_provided\x2c_single_submitter;CLNACC=RCV000015029.1|RCV000127500.1;CLNDSDB=.|MedGen;CLNDSDBID=.|CN221809 ID=CM073244;DIS=Faster cognitive decline in alzheimer disease, association with;TAG=DP;PUB=17221831 DP Pathogenic 14_20940626_C->T 14 20940626 20940626 C T snp 1527.77 0/1 99 109 44 65 0.6 exonic rs1130650 PNP AR synonymous SNV NM_000270 exon2 c.C171T p.P57P 0.204473 0.2083 0.198293 0.1932 0.2018 CLINSIG=non-pathogenic;CLNDBN=not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000127501.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Uncertain 14_20940834_A->G 14 20940834 20940834 A G snp 269.77 0/1 99 18 7 11 0.61 intronic rs1713422 PNP AR NM_000270 exon2 c.2953+198A>G 0.201677 0.2083 Uncertain 14_20943123_C->T 14 20943123 20943123 C T snp 2209.77 0/1 99 179 89 90 0.5 intronic rs138234455 PNP AR NM_000270 exon4 c.5424+16C>T 0.00139776 0.0069 0.0010 0.0132 Uncertain 14_20943504_T->A 14 20943504 20943504 T A snp 43.77 0/1 66 4 2 2 0.5 intronic rs1756369 PNP AR NM_000270 exon5 c.5728+93T>A 0.214257 0.2153 Uncertain 14_20978444_A->G 14 20978444 20978444 A G snp 319.78 1/1 27 9 0 9 1.0 upstream rs2319197 RNASE10 AU 0.892372 0.9514 Uncertain 14_20978531_G->A 14 20978531 20978531 G A snp 2023.77 1/1 99 69 0 69 1.0 upstream rs2319198 RNASE10 AU 0.83107 0.9494 Uncertain 14_21024605_G->A 14 21024605 21024605 G A snp 2069.77 1/1 99 66 0 66 1.0 UTR3 rs8014474 RNASE9 AU 0.572284 0.6548 0.602722 0.7076 0.6527 Uncertain 14_21024619_A->G 14 21024619 21024619 A G snp 2415.77 1/1 99 85 0 85 1.0 exonic rs1243647 RNASE9 AU nonsynonymous SNV NM_001001673 exon2 c.T610C p.S204P 0.752995 0.6607 0.794403 0.7735 0.6551 1 T 0.0 P -0.995 T 0.0 T 0.0 T Pathogenic 14_21024786_A->G 14 21024786 21024786 A G snp 4343.77 1/1 99 149 0 149 1.0 exonic rs12590446 RNASE9 AU nonsynonymous SNV NM_001001673 exon2 c.T443C p.F148S 0.577476 0.6607 0.610564 0.7109 0.6563 1 T 0.0 P -1.017 T 0.004 T 0.004 T Pathogenic 14_21058337_C->T 14 21058337 21058337 C T snp 158.77 0/1 66 9 3 6 0.67 ncRNA_intronic rs4981259 LOC254028 AU 0.392372 0.3492 Uncertain 14_21074683_C->T 14 21074683 21074683 C T snp 919.77 0/1 99 55 15 40 0.73 ncRNA_exonic rs1243595 LOC254028 AU 0.239816 0.2024 Uncertain 14_21109141_C->T 14 21109141 21109141 C T snp 4210.77 1/1 99 143 1 142 0.99 exonic rs17277522 OR6S1 AU nonsynonymous SNV NM_001001968 exon1 c.G710A p.R237H 0.53155 0.749 0.441104 0.4878 0.7517 0.01 T 0.010 P -1.244 T 0.993 D 0.819 D Pathogenic 14_21109170_T->A 14 21109170 21109170 T A snp 4514.77 1/1 99 148 0 148 1.0 exonic rs11628297 OR6S1 AU synonymous SNV NM_001001968 exon1 c.A681T p.A227A 0.984026 1 0.982547 0.9954 0.9999 Uncertain 14_21167576_A->T 14 21167576 21167576 A T snp 626.77 0/1 99 78 49 29 0.37 exonic rs3748338 RNASE4 AU nonsynonymous SNV NM_001282193 exon2 c.A46T p.T16S 0.127596 0.1935 0.107412 0.1465 0.2014 0 D 0.004 P -0.989 T 0.968 D 0.495 D Pathogenic 14_21168055_T->C 14 21168055 21168055 T C snp 249.77 0/1 99 19 11 8 0.42 UTR3 rs3094 RNASE4 AU 0.215256 0.4524 Uncertain 14_21168084_C->T 14 21168084 21168084 C T snp 37.77 0/1 66 4 2 2 0.5 UTR3 rs11541061 RNASE4 AU 0.269169 0.5615 Uncertain 14_21215692_C->T 14 21215692 21215692 C T snp 1449.77 1/1 99 47 0 47 1.0 intronic rs10136680 EDDM3A AU 0.82488 0.8919 0.738081 0.7583 0.8774 Uncertain 14_21215728_G->C 14 21215728 21215728 G C snp 2437.77 1/1 99 88 0 88 1.0 UTR5 rs10135976 EDDM3A AU 0.847843 0.9921 0.743580 0.7761 0.9892 Uncertain 14_21215997_C->T 14 21215997 21215997 C T snp 3888.77 1/1 99 150 0 150 1.0 exonic rs11847654 EDDM3A AU synonymous SNV NM_006683 exon2 c.C258T p.S86S 0.282748 0.4573 0.199831 0.2586 0.4423 Uncertain 14_21238318_G->A 14 21238318 21238318 G A snp 2520.77 1/1 99 88 0 88 1.0 exonic rs3827905 EDDM3B AU synonymous SNV NM_022360 exon2 c.G9A p.S3S 0.552117 0.7262 0.534061 0.6426 0.7294 Uncertain 14_21250124_G->A 14 21250124 21250124 G A snp 7138.77 1/1 99 237 0 237 1.0 exonic rs1045922 RNASE6 AU nonsynonymous SNV NM_005615 exon2 c.G266A p.R89Q 0.304912 0.4286 0.209980 0.2805 0.4147 0.63 T 0.0 P -1.030 T 0.012 T 0.003 T Pathogenic 14_21250366_T->C 14 21250366 21250366 T C snp 692.77 1/1 51 23 0 23 1.0 UTR3 rs7156801 RNASE6 AU 0.996206 1 Uncertain 14_21359808_C->A 14 21359808 21359808 C A snp 268.77 0/1 99 20 10 10 0.5 intronic rs2233859 RNASE3 AU 0.304513 0.2827 0.313896 0.4113 0.2908 Uncertain 14_21360216_C->G 14 21360216 21360216 C G snp 2080.77 0/1 99 179 97 82 0.46 exonic rs2073342 RNASE3 AU nonsynonymous SNV NM_002935 exon2 c.C371G p.T124R 0.640575 0.7361 0.624595 0.7148 0.7170 1 T 0.0 P -0.948 T 0.0 T 0.001 T ID=CM025442;DIS=Expression of allergic symptoms, association with;TAG=DFP;PUB=12100059 DFP Pathogenic 14_21387994_A->G 14 21387994 21387994 A G snp 2570.77 0/1 99 249 141 108 0.43 ncRNA_exonic rs10459477 ECRP AU 0.556909 0.5099 0.6816 0.5033 Uncertain 14_21388266_G->C 14 21388266 21388266 G C snp 2914.77 0/1 99 250 130 120 0.48 ncRNA_exonic rs3748340 ECRP AU 0.557508 0.5119 0.6813 0.5038 Uncertain 14_21388302_G->A 14 21388302 21388302 G A snp 2864.77 0/1 99 250 131 119 0.48 ncRNA_exonic rs3748341 ECRP AU 0.564097 0.5119 0.6820 0.5029 Uncertain 14_21458131_G->A 14 21458131 21458131 G A snp 1246.77 1/1 90 41 0 41 1.0 UTR5 rs2741733 METTL17 AU 0.980232 1 0.980855 0.9942 0.9999 Uncertain 14_21458321_CCCG->- 14 21458321 21458324 CCCG - indel 7600.73 0/1 99 250 123 127 0.51 intronic rs147038155 METTL17 AU NM_022734 exon2 c.227-67_227-64delCCCG 0.28774 0.2391 0.3225 0.2554 Uncertain 14_21460902_T->C 14 21460902 21460902 T C snp 910.77 1/1 69 30 0 30 1.0 intronic rs2741738 METTL17 AU NM_022734 exon5 c.2620+121T>C 0.316294 0.2748 Uncertain 14_21461502_A->G 14 21461502 21461502 A G snp 1236.77 1/1 90 35 0 35 1.0 intronic rs2783779 METTL17 AU NM_022734 exon6 c.3189+152A>G 0.247005 0.2867 Uncertain 14_21463430_G->T 14 21463430 21463430 G T snp 4574.77 1/1 99 163 1 162 0.99 intronic rs2741739 METTL17 AU NM_022734 exon10 c.5231+38G>T 0.993011 1 0.990850 0.9971 1 Uncertain 14_21463474_G->A 14 21463474 21463474 G A snp 3036.77 1/1 99 98 0 98 1.0 intronic rs2783801 METTL17 AU NM_022734 exon10 c.5231+82G>A 0.98123 1 Uncertain 14_21467913_T->G 14 21467913 21467913 T G snp 829.77 0/1 99 78 39 39 0.5 exonic rs2234632 SLC39A2 AU nonsynonymous SNV NM_001256588 exon2 c.T128G p.L43R 0.760383 0.7153 0.755728 0.7016 0.7295 1 T 0.0 P -0.956 T 0.0 T 0.0 T Pathogenic 14_21468156_T->G 14 21468156 21468156 T G snp 1301.77 0/1 99 86 32 54 0.63 intronic rs2149666 SLC39A2 AU NM_014579 exon3 c.669-118T>G 0.600639 0.7143 Uncertain 14_21485210_C->A 14 21485210 21485210 C A snp 329.77 0/1 99 24 11 13 0.54 UTR3 rs117084728 NDRG2 AU 0.00539137 0.0258 Uncertain 14_21486137_G->C 14 21486137 21486137 G C snp 6780.77 1/1 99 250 0 250 1.0 intronic rs1243445 NDRG2 AU NM_001282214 exon2 c.391-8G>C 0.992612 1 0.984622 0.9872 0.9998 Uncertain 14_21488046_G->C 14 21488046 21488046 G C snp 1508.77 1/1 99 49 0 49 1.0 intronic rs1243448 NDRG2 AU NM_001282214 exon8 c.2324-32G>C 0.910743 0.998 0.876442 0.8855 0.9978 Uncertain 14_21490125_A->C 14 21490125 21490125 A C snp 448.77 1/1 33 16 0 16 1.0 intronic rs1243449 NDRG2 AU NM_001282214 exon11 c.4284+87A>C 0.992013 1 Uncertain 14_21490606_G->T 14 21490606 21490606 G T snp 689.77 0/1 99 77 45 32 0.42 exonic rs76643306 NDRG2 AU nonsynonymous SNV NM_001282216 exon3 c.C5A p.A2E 0.00499201 0.0238 0.0022 0.0290 Pathogenic 14_21491322_C->G 14 21491322 21491322 C G snp 2865.77 1/1 99 90 0 90 1.0 intronic rs1243450 NDRG2 AU NM_001282214 exon14 c.5645-77C>G 0.21885 0.4514 Uncertain 14_21499054_G->A 14 21499054 21499054 G A snp 129.03 1/1 12 4 0 4 1.0 intronic rs1243459 NDRG2 AU NM_201536 exon15 c.8181+5119G>A 0.441294 0.5863 Uncertain 14_21499561_G->A 14 21499561 21499561 G A snp 77.77 0/1 99 7 4 3 0.43 intronic rs1243460 NDRG2 AU NM_201536 exon15 c.8181+5626G>A 0.161741 0.2857 Uncertain 14_21499884_A->G 14 21499884 21499884 A G snp 99.28 1/1 9 3 0 3 1.0 intronic rs1243461 NDRG2 AU NM_201536 exon15 c.8181+5949A>G 0.474241 0.7073 Uncertain 14_21500121_G->T 14 21500121 21500121 G T snp 1009.77 0/1 99 92 46 46 0.5 exonic rs9624 TPPP2 AU nonsynonymous SNV NM_173846 exon4 c.G398T p.R133L 0.159744 0.2847 0.095956 0.1484 0.2931 0.01 T 1.000 P -1.120 T 0.998 D 0.998 D Pathogenic 14_21500395_A->G 14 21500395 21500395 A G snp 1002.77 0/1 99 90 47 43 0.48 intronic rs1243462 NDRG2 AU NM_201536 exon15 c.8181+6460A>G 0.868411 0.9603 Uncertain 14_21500426_G->A 14 21500426 21500426 G A snp 1474.77 0/1 99 126 62 64 0.51 intronic rs1754340 NDRG2 AU NM_201536 exon15 c.8181+6491G>A 0.457668 0.6964 Uncertain 14_21503743_G->A 14 21503743 21503743 G A snp 303.77 0/1 99 22 11 11 0.5 intronic rs1243463 NDRG2 AU NM_201536 exon15 c.8181+9808G>A 0.871006 0.9296 Uncertain 14_21504447_A->G 14 21504447 21504447 A G snp 1680.77 0/1 99 126 61 65 0.52 intronic rs1243464 NDRG2 AU NM_201536 exon15 c.8181+10512A>G 0.808506 0.8611 0.7390 0.8433 Uncertain 14_21504554_G->A 14 21504554 21504554 G A snp 141.03 1/1 12 4 0 4 1.0 intronic rs1243465 NDRG2 AU NM_201536 exon15 c.8181+10619G>A 0.6875 0.8363 Uncertain 14_21511458_G->C 14 21511458 21511458 G C snp 7923.77 1/1 99 250 0 250 1.0 exonic rs1263872 RNASE7 AU nonsynonymous SNV NM_032572 exon2 c.G307C p.A103P 0.826278 0.8601 0.856066 0.8680 0.8711 1 T 0.0 P -0.984 T 0.0 T 0.0 T Pathogenic 14_21511497_C->T 14 21511497 21511497 C T snp 7198.77 1/1 99 244 0 244 1.0 exonic rs1243469 RNASE7 AU nonsynonymous SNV NM_032572 exon2 c.C346T p.H116Y 0.821086 0.8571 0.852991 0.8663 0.8697 1 T 0.0 P -0.958 T 0.0 T 0.0 T Pathogenic 14_21526044_T->C 14 21526044 21526044 T C snp 687.77 0/1 99 69 42 27 0.39 UTR5 rs12435011 RNASE8 AU 0.54393 0.6151 0.547055 0.5783 0.6034 Uncertain 14_21526079_C->T 14 21526079 21526079 C T snp 1276.77 0/1 99 110 61 49 0.45 exonic rs12437266 RNASE8 AU nonsynonymous SNV NM_138331 exon1 c.C28T p.P10S 0.546326 0.6151 0.548132 0.5769 0.6030 0.09 T 0.0 P -0.944 T 0.018 T 0.017 T Pathogenic 14_21542037_C->T 14 21542037 21542037 C T snp 999.77 0/1 99 91 50 41 0.45 intronic rs4982405 ARHGEF40 AU NM_018071 exon3 c.3535-53C>T 0.737021 0.5238 Uncertain 14_21542753_G->A 14 21542753 21542753 G A snp 934.77 0/1 99 78 37 41 0.53 exonic rs1243472 ARHGEF40 AU synonymous SNV NM_018071 exon3 c.G864A p.A288A 0.242013 0.4762 0.175422 0.3409 0.5807 Uncertain 14_21544056_C->T 14 21544056 21544056 C T snp 37.77 0/1 66 4 2 2 0.5 intronic rs7140850 ARHGEF40 AU NM_018071 exon5 c.5369+132C>T 0.498602 0.4802 Uncertain 14_21544842_-->G 14 21544842 21544842 - G indel 1425.73 0/1 99 128 73 55 0.43 intronic rs11483416 ARHGEF40 AU NM_018071 exon7 c.6247+40insG 0.45627 0.4802 0.487380 0.5031 0.4657 Uncertain 14_21549893_G->C 14 21549893 21549893 G C snp 1468.77 0/1 99 109 47 62 0.57 exonic rs7143633 ARHGEF40 AU nonsynonymous SNV NM_001278529 exon14 c.G724C p.V242L 0.780351 0.5546 0.849400 0.8381 0.5892 1 T 0.0 P -1.014 T 0.0 T 0.0 T Pathogenic 14_21551058_G->A 14 21551058 21551058 G A snp 710.77 0/1 99 99 62 37 0.37 exonic rs1958395 ARHGEF40 AU synonymous SNV NM_001278529 exon16 c.G1413A p.A471A 0.544728 0.5139 0.591189 0.5756 0.4877 Uncertain 14_21551069_T->C 14 21551069 21551069 T C snp 773.77 0/1 99 102 63 39 0.38 exonic rs1958396 ARHGEF40 AU nonsynonymous SNV NM_001278529 exon16 c.T1424C p.L475S 0.859225 0.6151 0.924266 0.8720 0.5902 0.91 T 0.000 P -0.955 T 0.0 T 0.004 T Pathogenic 14_21555067_A->- 14 21555067 21555067 A - indel 71.73 0/1 99 44 34 10 0.23 intronic rs768361533 ARHGEF40 AU NM_018071 exon20 c.16604-92delA Uncertain 14_21555088_AATC->- 14 21555088 21555091 AATC - indel 1711.73 0/1 99 73 33 40 0.55 intronic rs145744937 ARHGEF40 AU NM_018071 exon20 c.16604-71_16604-68delAATC 0.605631 0.5238 Uncertain 14_21556963_-->T 14 21556963 21556963 - T indel 1248.73 0/1 99 89 48 41 0.46 intronic rs35186993 ARHGEF40 AU NM_018071 exon23 c.18433-25insT 0.659944 0.5665 0.706709 0.7240 0.5589 Uncertain 14_21558558_G->C 14 21558558 21558558 G C snp 382.77 0/1 99 16 4 12 0.75 UTR3 rs6571653 ZNF219 AU 0.40016 0.376 Uncertain 14_21562560_T->C 14 21562560 21562560 T C snp 1079.77 0/1 99 112 61 51 0.46 intronic rs7149011 ZNF219 AU NM_001102454 exon4 c.3139+727T>C 0.408147 0.4732 0.5548 0.4338 1.000 P -1.005 T Uncertain 14_21570273_T->C 14 21570273 21570273 T C snp 2198.77 0/1 99 178 87 91 0.51 exonic rs745696 TMEM253 AU synonymous SNV NM_001146683 exon5 c.T270C p.L90L 0.639177 0.5357 0.714411 0.6730 0.5547 Uncertain 14_21570614_A->C 14 21570614 21570614 A C snp 1377.77 0/1 99 111 56 55 0.5 exonic rs4982408 TMEM253 AU synonymous SNV NM_001146683 exon6 c.A327C p.I109I 0.800519 0.6012 0.863338 0.8156 0.6222 Uncertain 14_21571119_A->G 14 21571119 21571119 A G snp 215.77 0/1 99 18 9 9 0.5 intronic rs12432043 TMEM253 AU NM_001146683 exon8 c.1795-178A>G 0.528554 0.4673 Uncertain 14_21571208_G->T 14 21571208 21571208 G T snp 721.77 0/1 99 62 29 33 0.53 intronic rs12880628 TMEM253 AU NM_001146683 exon8 c.1795-89G>T 0.390575 0.4663 Uncertain 14_21623010_T->C 14 21623010 21623010 T C snp 2662.77 1/1 99 93 0 93 1.0 downstream rs8007993 OR5AU1 AU 0.951877 0.7837 Uncertain 14_21623053_G->T 14 21623053 21623053 G T snp 1386.77 0/1 99 153 91 62 0.41 downstream rs45468597 OR5AU1 AU 0.0623003 0.0446 0.059272 0.0617 0.0336 Uncertain 14_21623290_T->C 14 21623290 21623290 T C snp 7166.77 1/1 99 237 0 237 1.0 exonic rs7145814 OR5AU1 AU nonsynonymous SNV NM_001004731 exon1 c.A895G p.I299V 0.723243 0.496 0.798478 0.7429 0.4545 1 T 0.0 P -0.953 T 0.0 T 0.0 T Pathogenic 14_21623303_G->T 14 21623303 21623303 G T snp 3072.77 0/1 99 234 109 125 0.53 exonic rs45603634 OR5AU1 AU synonymous SNV NM_001004731 exon1 c.C882A p.S294S 0.0650958 0.0446 0.064432 0.0618 0.0334 Uncertain 14_21623489_C->T 14 21623489 21623489 C T snp 1473.77 0/1 99 154 89 65 0.42 exonic rs45462402 OR5AU1 AU synonymous SNV NM_001004731 exon1 c.G696A p.G232G 0.508586 0.6607 0.346302 0.3160 0.6857 Uncertain 14_21623648_G->A 14 21623648 21623648 G A snp 1657.77 0/1 99 127 60 67 0.53 exonic rs7161544 OR5AU1 AU synonymous SNV NM_001004731 exon1 c.C537T p.N179N 0.347843 0.1389 0.507843 0.4791 0.1256 Uncertain 14_21623836_G->A 14 21623836 21623836 G A snp 5317.77 1/1 99 189 0 189 1.0 exonic rs4982419 OR5AU1 AU nonsynonymous SNV NM_001004731 exon1 c.C349T p.L117F 0.664736 0.4851 0.741043 0.7147 0.4487 0.01 T 1.000 P -1.212 T 1.0 D 1.0 D Pathogenic 14_21624197_T->C 14 21624197 21624197 T C snp 896.77 1/1 69 29 0 29 1.0 upstream rs10135366 OR5AU1 AU 0.561502 0.4325 0.636937 0.6654 0.4092 Uncertain 14_21681419_C->T 14 21681419 21681419 C T snp 94.28 1/1 9 3 0 3 1.0 intronic rs3790068 HNRNPC AU NM_001077442 exon4 c.1895+143C>T 0.15595 0.3254 Uncertain 14_21785790_G->A 14 21785790 21785790 G A snp 1873.77 1/1 99 76 0 76 1.0 intronic rs3748357 RPGRIP1 AU NM_020366 exon10 c.29719-64G>A 0.331669 0.4266 0.4130 0.5284 0.21 T 0.000 P -0.986 T 0.039 T 0.029 T Uncertain 14_21796784_G->C 14 21796784 21796784 G C snp 177.77 0/1 99 34 26 8 0.24 exonic rs3748361 RPGRIP1 AU nonsynonymous SNV NM_020366 exon18 c.G3097C p.E1033Q 0.295327 0.4246 0.263761 0.3373 0.4168 0.9 T 0.0 P -0.910 T 0.001 T 0.001 T Pathogenic 14_21813510_A->G 14 21813510 21813510 A G snp 194.77 0/1 58 8 2 6 0.75 intronic rs61695584 RPGRIP1 AU NM_020366 exon22 c.57221+154A>G 0.154752 0.127 Uncertain 14_21819061_G->T 14 21819061 21819061 G T snp 101.77 0/1 99 11 7 4 0.36 intronic rs6571770 RPGRIP1 AU NM_020366 exon24 c.63127-201G>T 0.907149 0.88 Uncertain 14_21825924_T->C 14 21825924 21825924 T C snp 43.77 0/1 66 4 2 2 0.5 intronic rs3762156 SUPT16H AU NM_007192 exon6 c.5254-161T>C 0.866813 0.8869 Uncertain 14_21826718_T->G 14 21826718 21826718 T G snp 533.77 0/1 99 28 10 18 0.64 intronic rs3762157 SUPT16H AU NM_007192 exon7 c.5755+132T>G 0.919728 0.8869 Uncertain 14_21828520_T->A 14 21828520 21828520 T A snp 523.77 0/1 99 44 24 20 0.45 intronic rs927412 SUPT16H AU NM_007192 exon9 c.7742-53T>A 0.908546 0.8869 Uncertain 14_21829129_C->G 14 21829129 21829129 C G snp 289.77 0/1 99 59 45 14 0.24 exonic rs3762158 SUPT16H AU synonymous SNV NM_007192 exon17 c.G1932C p.G644G 0.874201 0.8938 0.896894 0.8979 0.8790 Uncertain 14_21829404_T->C 14 21829404 21829404 T C snp 1715.77 0/1 99 175 100 75 0.43 intronic rs1543494 SUPT16H AU NM_007192 exon11 c.8541+32T>C 0.81849 0.8869 0.829668 0.8669 0.8794 Uncertain 14_21830635_C->T 14 21830635 21830635 C T snp 125.78 0/1 25 6 1 5 0.83 intronic rs1983768 SUPT16H AU NM_007192 exon12 c.9652+152C>T 0.799521 0.8869 Uncertain 14_21831052_T->C 14 21831052 21831052 T C snp 1509.77 0/1 99 138 77 61 0.44 exonic rs10138699 SUPT16H AU synonymous SNV NM_007192 exon14 c.A1566G p.P522P 0.79972 0.8879 0.814009 0.8613 0.8792 Uncertain 14_21831112_G->A 14 21831112 21831112 G A snp 1876.77 0/1 99 173 93 80 0.46 splicing rs10146717 SUPT16H AU NM_007192 exon13 c.10275+6G>A 0.799321 0.8869 0.813855 0.8612 0.8793 Pathogenic 14_21831692_T->A 14 21831692 21831692 T A snp 263.77 0/1 99 20 9 11 0.55 intronic rs10139379 SUPT16H AU NM_007192 exon16 c.10831+30T>A 0.866613 0.8869 0.897997 0.8985 0.8796 Uncertain 14_21833147_G->A 14 21833147 21833147 G A snp 503.77 0/1 99 53 31 22 0.42 intronic rs2295866 SUPT16H AU NM_007192 exon17 c.12267+49G>A 0.799521 0.8869 0.813855 0.8618 0.8794 Uncertain 14_21836400_T->C 14 21836400 21836400 T C snp 272.77 0/1 99 15 6 9 0.6 intronic rs8008670 SUPT16H AU NM_007192 exon20 c.15596-27T>C 0.866214 0.8879 0.894510 0.8977 0.8796 Uncertain 14_21838160_A->G 14 21838160 21838160 A G snp 579.77 0/1 99 36 15 21 0.58 intronic rs2181125 SUPT16H AU NM_007192 exon22 c.17224+105A>G 0.79972 0.8879 Uncertain 14_21838781_C->T 14 21838781 21838781 C T snp 37.77 0/1 66 6 4 2 0.33 intronic rs4982445 SUPT16H AU NM_007192 exon23 c.17816+134C>T 0.908546 0.8869 Uncertain 14_21859080_A->- 14 21859080 21859080 A - indel 2684.73 0/1 99 163 92 71 0.44 intronic rs35057134 CHD8 AD NM_001170629 exon2 c.5334-25delA 0.262979 0.3482 0.268299 0.3349 0.4342 Uncertain 14_21859536_T->C 14 21859536 21859536 T C snp 832.77 0/1 99 63 27 36 0.57 intronic rs3762159 CHD8 AD NM_001170629 exon3 c.5850-85T>C 0.798922 0.8879 Uncertain 14_21860360_G->A 14 21860360 21860360 G A snp 1918.77 0/1 99 179 90 89 0.5 ncRNA_exonic rs1998332 SNORD9 AU 0.798722 0.8879 0.826648 0.8633 0.8795 Uncertain 14_21861211_C->A 14 21861211 21861211 C A snp 100.77 0/1 99 10 6 4 0.4 intronic rs7152833 CHD8 AD NM_001170629 exon6 c.7493-53C>A 0.843051 0.8879 Uncertain 14_21864124_C->A 14 21864124 21864124 C A snp 278.77 0/1 99 15 5 10 0.67 intronic rs10134108 CHD8 AD NM_001170629 exon11 c.10280+73C>A 0.79393 0.8859 Uncertain 14_21865259_T->G 14 21865259 21865259 T G snp 40.77 0/1 31 3 1 2 0.67 intronic rs10151764 CHD8 AD NM_001170629 exon12 c.12210-722T>G 0.811102 0.8869 Uncertain 14_21869705_-->T 14 21869705 21869705 - T indel 519.73 0/1 99 51 18 33 0.65 intronic rs113076568 CHD8 AD NM_001170629 exon18 c.15901+33insT 0.777157 0.8661 0.7564 0.7845 Uncertain 14_21871653_C->T 14 21871653 21871653 C T snp 1504.77 0/1 99 138 75 63 0.46 exonic rs8022395 CHD8 AD synonymous SNV NM_001170629 exon16 c.G3477A p.V1159V 0.907348 0.8869 0.940974 0.9093 0.8784 1.000 P -1.040 T Likely benign 14_21874068_G->C 14 21874068 21874068 G C snp 677.77 0/1 99 44 23 21 0.48 intronic rs7155123 CHD8 AD NM_001170629 exon24 c.20252+45G>C 0.794129 0.8869 0.821173 0.8616 0.8807 Uncertain 14_21899631_C->T 14 21899631 21899631 C T snp 1153.77 0/1 99 98 49 49 0.5 exonic rs10467770 CHD8 AD nonsynonymous SNV NM_001170629 exon1 c.G172A p.V58M 0.252796 0.3452 0.246167 0.2516 0.3276 0.26 T 0.000 P -1.066 T Pathogenic 14_21905037_T->G 14 21905037 21905037 T G snp 37.77 0/1 66 64 44 20 0.31 intergenic CHD8 AD Uncertain 14_21905177_C->T 14 21905177 21905177 C T snp 233.77 0/1 99 34 20 14 0.41 intergenic rs118139311 CHD8 AD 0.00139776 0.006 0.0010 0.0152 Uncertain 14_21930596_G->A 14 21930596 21930596 G A snp 1796.77 0/1 99 144 72 72 0.5 intronic rs10143000 RAB2B AU NM_001163380 exon2 c.1223+19G>A 0.920128 0.8829 0.954483 0.9124 0.8634 Uncertain 14_21931956_A->T 14 21931956 21931956 A T snp 756.77 0/1 99 59 29 30 0.51 intronic rs535167555 RAB2B AU NM_001163380 exon3 c.2572+30A>T 0.000599042 0.001 0.0002 0.0015 Uncertain 14_21936762_-->A 14 21936762 21936762 - A indel 74.73 0/1 99 38 19 19 0.5 intronic rs35440295 RAB2B AU NM_001163380 exon5 c.7474-66insA Uncertain 14_21950836_T->G 14 21950836 21950836 T G snp 774.77 0/1 99 75 43 32 0.43 intronic rs6571850 TOX4 AU NM_014828 exon3 c.10172-4773T>G 0.660942 0.7024 Uncertain 14_21955930_G->A 14 21955930 21955930 G A snp 219.77 0/1 99 18 10 8 0.44 intronic rs1061031 TOX4 AU NM_014828 exon3 c.10415+78G>A 0.65595 0.7014 Uncertain 14_21956584_T->A 14 21956584 21956584 T A snp 79.77 0/1 99 9 4 5 0.56 intronic rs530101913 TOX4 AU NM_014828 exon4 c.11311-164T>A 0.000399361 0.001 Uncertain 14_21960408_A->G 14 21960408 21960408 A G snp 43.77 0/1 70 5 3 2 0.4 intronic rs3737050 TOX4 AU NM_014828 exon6 c.15017-46A>G 0.660942 0.7024 0.670224 0.6446 0.7101 Uncertain 14_21960816_T->C 14 21960816 21960816 T C snp 535.77 0/1 99 40 21 19 0.47 exonic rs1060722 TOX4 AU synonymous SNV NM_001303523 exon6 c.T972C p.L324L 0.495607 0.6488 0.490850 0.4887 0.6455 Uncertain 14_21960969_G->A 14 21960969 21960969 G A snp 1294.77 0/1 99 158 99 59 0.37 exonic rs7617 TOX4 AU synonymous SNV NM_001303523 exon6 c.G1125A p.R375R 0.495208 0.6488 0.490697 0.4887 0.6443 Uncertain 14_21967916_A->G 14 21967916 21967916 A G snp 3007.77 0/1 99 249 117 132 0.53 exonic rs1139130 METTL3 AU synonymous SNV NM_019852 exon7 c.T1335C p.N445N 0.511981 0.3542 0.512610 0.5179 0.3617 Uncertain 14_21968619_A->G 14 21968619 21968619 A G snp 390.77 0/1 99 29 15 14 0.48 intronic rs1263790 METTL3 AU NM_019852 exon6 c.2235-17A>G 0.0928514 0.0843 0.065431 0.0908 0.1021 Uncertain 14_21970091_C->T 14 21970091 21970091 C T snp 1536.77 0/1 99 116 56 60 0.52 intronic rs1263792 METTL3 AU NM_019852 exon8 c.3644+46C>T 0.072484 0.0833 0.043595 0.0846 0.1021 Uncertain 14_21991738_C->T 14 21991738 21991738 C T snp 2259.77 0/1 99 194 96 98 0.51 exonic rs199602512 SALL2 AR synonymous SNV NM_005407 exon2 c.G2124A p.Q708Q 0.000599042 0.003 0.000077 0.0003 0.0036 0.08 T 1 D -0.915 T Likely benign 14_21993498_G->A 14 21993498 21993498 G A snp 1612.77 0/1 99 128 56 72 0.56 exonic rs1263811 SALL2 AR nonsynonymous SNV NM_005407 exon2 c.C364T p.P122S 0.798922 0.8185 0.810857 0.8467 0.7949 0.92 T 0.0 P -1.002 T 0.0 T 0.0 T Pathogenic 14_22037876_C->T 14 22037876 22037876 C T snp 272.77 0/1 99 20 8 12 0.6 downstream rs80231832 OR10G3 AU 0.170327 0.3909 Uncertain 14_22037905_G->A 14 22037905 22037905 G A snp 376.77 0/1 99 33 16 17 0.52 downstream rs8009501 OR10G3 AU 0.72484 0.7331 0.695401 0.7126 0.7239 Uncertain 14_22038001_C->T 14 22038001 22038001 C T snp 758.77 0/1 99 62 30 32 0.52 exonic rs80295194 OR10G3 AU nonsynonymous SNV NM_001005465 exon1 c.G875A p.R292Q 0.0189696 0.0288 0.000231 0.0076 0.0269 0 D 0.654 D -0.611 T 0.993 D 0.873 D Pathogenic 14_22038450_G->A 14 22038450 22038450 G A snp 1566.77 0/1 99 142 75 67 0.47 exonic rs11626669 OR10G3 AU synonymous SNV NM_001005465 exon1 c.C426T p.S142S 0.472045 0.498 0.439643 0.4696 0.5242 Uncertain 14_22038659_T->C 14 22038659 22038659 T C snp 1797.77 0/1 99 147 69 78 0.53 exonic rs17792778 OR10G3 AU nonsynonymous SNV NM_001005465 exon1 c.A217G p.S73G 0.711262 0.7331 0.677995 0.6942 0.7159 0.15 T 0.000 P -1.026 T 0.0 T 0.0 T ID=CM141912;DIS=Altered receptor function;TAG=FP;PUB=24316890 FP Pathogenic 14_22038915_A->G 14 22038915 22038915 A G snp 1106.77 0/1 99 116 71 45 0.39 upstream rs4982462 OR10G3 AU 0.512181 0.6667 0.425192 0.5058 0.6365 Uncertain 14_22070165_C->T 14 22070165 22070165 C T snp 274.77 0/1 99 157 135 22 0.14 intergenic OR10G3 AU Uncertain 14_22070355_T->C 14 22070355 22070355 T C snp 1585.77 0/1 99 249 172 77 0.31 intergenic rs199637760 OR10G3 AU Uncertain 14_22070440_T->C 14 22070440 22070440 T C snp 649.77 0/1 99 250 203 47 0.19 intergenic rs199812846 OR10G3 AU Uncertain 14_22070478_G->A 14 22070478 22070478 G A snp 505.77 0/1 99 250 206 44 0.18 intergenic rs371337412 OR10G3 AU Uncertain 14_22070707_G->A 14 22070707 22070707 G A snp 593.77 0/1 99 38 18 20 0.53 intergenic rs12432738 OR10G3 AU 0.1248 0.1964 Uncertain 14_22090208_A->G 14 22090208 22090208 A G snp 1667.77 1/1 99 61 0 61 1.0 intergenic rs8016939 OR10G3 AU 0.560304 0.6329 Uncertain 14_22090594_C->G 14 22090594 22090594 C G snp 4631.77 1/1 99 162 0 162 1.0 intergenic rs1063365 OR10G3 AU 0.290335 0.0933 0.383638 0.3568 0.1005 Uncertain 14_22101945_G->A 14 22101945 22101945 G A snp 240.77 0/1 99 25 17 8 0.32 downstream rs4982475 OR10G2 AU 0.46246 0.5347 Uncertain 14_22102374_T->C 14 22102374 22102374 T C snp 315.77 0/1 99 167 142 25 0.15 exonic rs12894405 OR10G2 AU nonsynonymous SNV NM_001005466 exon1 c.A625G p.R209G 0.451478 0.5188 0.279360 0.3524 0.5054 1 T 0.0 P -0.909 T 0.0 T 0.0 T Pathogenic 14_22102439_C->G 14 22102439 22102439 C G snp 846.77 0/1 99 198 142 56 0.28 exonic rs35963889 OR10G2 AU nonsynonymous SNV NM_001005466 exon1 c.G560C p.R187P 0.380791 0.494 0.193635 0.2883 0.5035 0.27 T 0.0 P -1.097 T 0.0 T 0.0 T Pathogenic 14_22102592_T->C 14 22102592 22102592 T C snp 537.77 0/1 99 112 87 25 0.22 exonic rs10138694 OR10G2 AU nonsynonymous SNV NM_001005466 exon1 c.A407G p.H136R 0.450479 0.5248 0.1093 0.1094 0.29 T 0.000 P -0.905 T 0.0 T 0.0 T Pathogenic 14_22102612_T->C 14 22102612 22102612 T C snp 666.77 0/1 99 120 86 34 0.28 exonic rs10138704 OR10G2 AU synonymous SNV NM_001005466 exon1 c.A387G p.L129L 0.456869 0.5317 0.1796 0.2847 Uncertain 14_22102745_C->A 14 22102745 22102745 C A snp 1469.77 0/1 99 148 82 66 0.45 exonic rs41314525 OR10G2 AU nonsynonymous SNV NM_001005466 exon1 c.G254T p.R85L 0.234225 0.2808 0.202676 0.2013 0.3005 0 D 0.0 P -0.903 T 0.006 T 0.009 T Pathogenic 14_22167296_G->C 14 22167296 22167296 G C snp 3325.77 1/1 99 119 0 119 1.0 intergenic rs6572018 OR4E2 AU 1 1 Uncertain 14_22192106_A->G 14 22192106 22192106 A G snp 793.77 1/1 60 30 0 30 1.0 intergenic rs926027 OR4E2 AU 0.457268 0.5427 0.458320 0.4715 0.5067 Uncertain 14_22204911_T->C 14 22204911 22204911 T C snp 1252.77 0/1 99 79 32 47 0.59 intergenic rs3748366 OR4E2 AU 0.153754 0.2589 Uncertain 14_22217356_G->A 14 22217356 22217356 G A snp 1319.77 1/1 96 44 0 44 1.0 intergenic rs2075477 OR4E2 AU 0.553115 0.4931 Uncertain 14_22218051_C->T 14 22218051 22218051 C T snp 1327.77 1/1 96 39 0 39 1.0 intergenic rs2075478 OR4E2 AU 0.494609 0.4931 Uncertain 14_22236597_A->C 14 22236597 22236597 A C snp 155.77 0/1 99 9 4 5 0.56 intergenic rs766737 OR4E2 AU 0.183307 0.3026 Uncertain 14_22236756_G->C 14 22236756 22236756 G C snp 1121.77 0/1 99 106 54 52 0.49 intergenic rs766738 OR4E2 AU 0.183706 0.3026 0.091172 0.1432 0.3238 Uncertain 14_22237070_C->T 14 22237070 22237070 C T snp 1468.77 0/1 99 97 35 62 0.64 intergenic rs2075486 OR4E2 AU 0.183307 0.3026 0.091030 0.1427 0.3250 Uncertain 14_22237127_C->T 14 22237127 22237127 C T snp 3985.77 1/1 99 139 0 139 1.0 intergenic rs760008 OR4E2 AU 0.947684 0.998 0.913779 0.9275 0.9998 Uncertain 14_22266099_C->T 14 22266099 22266099 C T snp 335.77 0/1 99 32 17 15 0.47 intergenic rs35634948 OR4E2 AU 0.0139776 0.0675 0.000167 0.0047 0.0548 Uncertain 14_22279817_G->A 14 22279817 22279817 G A snp 3465.77 1/1 99 119 1 118 0.99 intergenic rs7156201 OR4E2 AU 0.383786 0.3849 0.353749 0.4024 0.3737 Uncertain 14_22293510_T->C 14 22293510 22293510 T C snp 1106.77 1/1 81 36 0 36 1.0 intergenic rs2178782 OR4E2 AU 1 1 Uncertain 14_22293554_-->C 14 22293554 22293554 - C indel 3230.05 1/1 99 77 0 77 1.0 intergenic rs35339724 OR4E2 AU 1 1 Uncertain 14_22309328_T->C 14 22309328 22309328 T C snp 162.77 0/1 99 20 14 6 0.3 intergenic rs34295307 OR4E2 AU 0.28095 0.371 Uncertain 14_22309386_A->C 14 22309386 22309386 A C snp 909.77 0/1 99 88 52 36 0.41 intergenic rs35372754 OR4E2 AU 0.191094 0.253 0.110416 0.1412 0.2317 Uncertain 14_22314877_T->C 14 22314877 22314877 T C snp 883.77 0/1 99 59 28 31 0.53 intergenic rs9635202 OR4E2 AU 0.28115 0.372 0.196452 Uncertain 14_22314985_T->C 14 22314985 22314985 T C snp 2785.77 0/1 99 207 91 116 0.56 intergenic rs34825426 OR4E2 AU 0.329273 0.5288 0.192586 0.2394 0.5293 Uncertain 14_22315212_A->G 14 22315212 22315212 A G snp 3107.77 0/1 99 250 134 116 0.46 intergenic rs2075488 OR4E2 AU 0.329872 0.5298 0.193426 0.2394 0.5271 Uncertain 14_22315296_C->T 14 22315296 22315296 C T snp 2945.77 0/1 99 250 133 117 0.47 intergenic rs33959352 OR4E2 AU 0.188498 0.254 0.107613 0.1402 0.2300 Uncertain 14_22315479_G->A 14 22315479 22315479 G A snp 1336.77 0/1 99 102 50 52 0.51 intergenic rs7151170 OR4E2 AU 0.229034 0.124 Uncertain 14_22320728_T->C 14 22320728 22320728 T C snp 2104.77 1/1 99 72 0 72 1.0 intergenic rs2017224 OR4E2 AU 0.451078 0.376 0.430771 0.4279 0.3497 Uncertain 14_22320876_A->G 14 22320876 22320876 A G snp 2660.77 0/1 99 215 99 116 0.54 intergenic rs2017238 OR4E2 AU 0.25 0.122 0.305880 0.2834 0.1201 Uncertain 14_22321124_T->C 14 22321124 22321124 T C snp 3138.77 1/1 99 119 0 119 1.0 intergenic rs2017263 OR4E2 AU 0.451478 0.376 0.427232 0.4260 0.3494 Uncertain 14_22321261_C->T 14 22321261 22321261 C T snp 1236.77 1/1 90 44 0 44 1.0 intergenic rs2017432 OR4E2 AU 0.451078 0.376 Uncertain 14_22321269_T->C 14 22321269 22321269 T C snp 1211.77 1/1 87 40 0 40 1.0 intergenic rs2072609 OR4E2 AU 0.450879 0.376 Uncertain 14_22321331_G->A 14 22321331 22321331 G A snp 82.77 0/1 99 7 3 4 0.57 intergenic rs12892111 OR4E2 AU 0.223442 0.122 Uncertain 14_22322168_A->G 14 22322168 22322168 A G snp 1578.77 1/1 99 50 0 50 1.0 intergenic rs760003 OR4E2 AU 0.451078 0.376 0.4121 0.3333 Uncertain 14_22322369_T->C 14 22322369 22322369 T C snp 2123.77 1/1 99 77 0 77 1.0 intergenic rs11626323 OR4E2 AU 0.451078 0.376 0.428821 0.4686 0.4044 Uncertain 14_22322411_G->C 14 22322411 22322411 G C snp 1757.77 1/1 99 61 0 61 1.0 intergenic rs11629404 OR4E2 AU 0.451078 0.376 Uncertain 14_22322523_G->A 14 22322523 22322523 G A snp 2008.77 1/1 99 58 0 58 1.0 intergenic rs11629446 OR4E2 AU 0.450879 0.375 Uncertain 14_22322563_C->T 14 22322563 22322563 C T snp 3011.77 1/1 99 100 0 100 1.0 intergenic rs11620886 OR4E2 AU 0.451078 0.375 0.435298 0.4266 0.3484 Uncertain 14_22322690_G->A 14 22322690 22322690 G A snp 6093.77 1/1 99 231 0 231 1.0 intergenic rs12878216 OR4E2 AU 0.44988 0.375 0.435473 0.4251 0.3492 Uncertain 14_22322794_C->T 14 22322794 22322794 C T snp 2394.77 1/1 99 78 0 78 1.0 intergenic rs12879611 OR4E2 AU 0.44988 0.375 Uncertain 14_22322856_T->C 14 22322856 22322856 T C snp 642.77 1/1 48 16 0 16 1.0 intergenic rs12884453 OR4E2 AU 0.44988 0.375 Uncertain 14_22337119_G->C 14 22337119 22337119 G C snp 819.77 0/1 99 55 25 30 0.55 intergenic rs909075 OR4E2 AU 0.689097 0.7629 0.639054 0.6402 0.7704 Uncertain 14_22337393_G->A 14 22337393 22337393 G A snp 1805.77 0/1 99 179 100 79 0.44 intergenic rs876093 OR4E2 AU 0.680511 0.7619 0.629339 0.6382 0.7702 Uncertain 14_22356081_T->C 14 22356081 22356081 T C snp 266.77 0/1 99 19 10 9 0.47 intergenic rs12885687 OR4E2 AU 0.602436 0.624 0.520806 Uncertain 14_22356225_G->T 14 22356225 22356225 G T snp 865.77 0/1 99 79 39 40 0.51 intergenic rs17197550 OR4E2 AU 0.339257 0.2183 0.361327 0.3854 0.2251 Uncertain 14_22356551_T->C 14 22356551 22356551 T C snp 2673.77 0/1 99 235 118 117 0.5 intergenic rs10483261 OR4E2 AU 0.602037 0.624 0.525970 0.5103 0.6462 Uncertain 14_22362971_A->G 14 22362971 22362971 A G snp 2933.77 0/1 99 250 127 123 0.49 intergenic rs2075481 OR4E2 AU 0.612021 0.625 0.537252 0.5141 0.6476 Uncertain 14_22363080_T->A 14 22363080 22363080 T A snp 3297.77 0/1 99 249 120 129 0.52 intergenic rs12895616 OR4E2 AU 0.341054 0.2212 0.360430 0.3844 0.2199 Uncertain 14_22363084_C->G 14 22363084 22363084 C G snp 3249.77 0/1 99 250 121 129 0.52 intergenic rs12890675 OR4E2 AU 0.341054 0.2212 0.361028 0.3844 0.2200 Uncertain 14_22386449_C->T 14 22386449 22386449 C T snp 2922.77 0/1 99 250 121 129 0.52 intergenic rs34656082 OR4E2 AU 0.102037 0.2381 0.054592 0.0820 0.2225 Uncertain 14_22392250_C->T 14 22392250 22392250 C T snp 307.77 0/1 99 46 31 15 0.33 intergenic rs17182937 OR4E2 AU 0.465655 0.504 Uncertain 14_22392283_G->A 14 22392283 22392283 G A snp 678.77 0/1 99 71 40 31 0.44 intergenic rs28501628 OR4E2 AU 0.465655 0.504 0.399072 0.4008 0.4636 Uncertain 14_22392304_G->A 14 22392304 22392304 G A snp 750.77 0/1 99 84 50 34 0.4 intergenic rs34365759 OR4E2 AU 0.465655 0.504 0.383544 0.4201 0.4878 Uncertain 14_22392366_C->T 14 22392366 22392366 C T snp 999.77 0/1 99 111 65 46 0.41 intergenic rs12437316 OR4E2 AU 0.465655 0.504 0.417355 0.4206 0.4856 Uncertain 14_22392499_T->C 14 22392499 22392499 T C snp 1122.77 0/1 99 81 35 46 0.57 intergenic rs12435124 OR4E2 AU 0.465655 0.504 0.419218 0.4320 0.5016 Uncertain 14_22392626_A->C 14 22392626 22392626 A C snp 1497.77 0/1 99 141 80 61 0.43 intergenic rs10140810 OR4E2 AU 0.465455 0.504 0.417806 0.4268 0.4936 Uncertain 14_22392703_G->C 14 22392703 22392703 G C snp 1903.77 0/1 99 197 108 89 0.45 intergenic rs8021861 OR4E2 AU 0.465855 0.504 0.417430 0.4268 0.4930 Uncertain 14_22392838_G->T 14 22392838 22392838 G T snp 932.77 0/1 99 89 51 38 0.43 intergenic rs35379740 OR4E2 AU 0.0976438 0.2401 0.050597 0.0816 0.2261 Uncertain 14_22433866_C->T 14 22433866 22433866 C T snp 1676.77 0/1 99 195 121 74 0.38 intergenic rs17182972 OR4E2 AU 0.202676 0.2391 Uncertain 14_22458695_A->G 14 22458695 22458695 A G snp 444.77 0/1 99 74 49 25 0.34 intergenic rs956037 OR4E2 AU 0.0686901 0.1865 0.040849 0.0614 0.2033 Uncertain 14_22466017_T->C 14 22466017 22466017 T C snp 1569.77 0/1 99 125 62 63 0.5 intergenic rs2280763 OR4E2 AU 0.271565 0.1944 0.274794 0.1976 0.1966 Uncertain 14_22470693_-->A 14 22470693 22470693 - A indel 3951.73 1/1 99 95 0 95 1.0 intergenic rs397789998 OR4E2 AU 1 1 Uncertain 14_22470894_-->A 14 22470894 22470894 - A indel 496.73 0/1 99 44 18 26 0.59 intergenic rs200273819 OR4E2 AU 0.0824681 0.1429 Uncertain 14_22470914_T->- 14 22470914 22470914 T - indel 302.73 0/1 99 31 14 17 0.55 intergenic rs34215246 OR4E2 AU 0.63099 0.5625 Uncertain 14_22509188_T->C 14 22509188 22509188 T C snp 871.77 1/1 63 28 0 28 1.0 intergenic rs4982545 OR4E2 AU 0.970048 0.999 0.950155 0.9650 1 Uncertain 14_22520684_A->G 14 22520684 22520684 A G snp 430.77 1/1 33 15 0 15 1.0 intergenic rs2072611 OR4E2 AU 0.702276 0.8353 Uncertain 14_22533857_C->T 14 22533857 22533857 C T snp 476.77 1/1 36 14 0 14 1.0 intergenic rs3811313 OR4E2 AU 0.263978 0.3274 Uncertain 14_22534141_T->C 14 22534141 22534141 T C snp 2440.77 1/1 99 75 0 75 1.0 intergenic rs3811311 OR4E2 AU 0.243011 0.3284 Uncertain 14_22534450_A->G 14 22534450 22534450 A G snp 2065.77 1/1 99 74 0 74 1.0 intergenic rs3811308 OR4E2 AU 0.249002 0.3313 Uncertain 14_22534466_C->G 14 22534466 22534466 C G snp 2305.77 1/1 99 84 0 84 1.0 intergenic rs3811307 OR4E2 AU 0.244209 0.3313 Uncertain 14_22534497_T->G 14 22534497 22534497 T G snp 2879.77 1/1 99 107 0 107 1.0 intergenic rs3811306 OR4E2 AU 0.636382 0.8373 Uncertain 14_22539108_C->T 14 22539108 22539108 C T snp 809.77 0/1 99 54 24 30 0.56 intergenic rs2272547 OR4E2 AU 0.538339 0.6002 Uncertain 14_22539116_G->A 14 22539116 22539116 G A snp 850.77 0/1 99 59 27 32 0.54 intergenic rs2272548 OR4E2 AU 0.620807 0.6022 Uncertain 14_22555013_T->C 14 22555013 22555013 T C snp 2101.77 0/1 99 168 81 87 0.52 intergenic rs2272549 OR4E2 AU 0.172724 0.3234 0.091152 0.1535 0.2934 Uncertain 14_22565073_G->A 14 22565073 22565073 G A snp 1540.77 0/1 99 105 46 59 0.56 intergenic rs12897143 OR4E2 AU 0.580671 0.6032 0.569062 0.5366 0.6390 Uncertain 14_22573582_A->C 14 22573582 22573582 A C snp 3804.77 1/1 99 136 0 136 1.0 intergenic rs2075498 OR4E2 AU 0.930112 0.9425 0.911953 0.9007 0.9415 Uncertain 14_22573824_-->A 14 22573824 22573824 - A indel 238.73 0/1 99 30 16 14 0.47 intergenic rs112427980 OR4E2 AU 0.321486 0.4028 0.273861 0.3270 0.3736 Uncertain 14_22573825_T->A 14 22573825 22573825 T A snp 329.77 0/1 99 30 17 13 0.43 intergenic rs11408894 OR4E2 AU 0.321486 0.4028 0.3274 0.3709 Uncertain 14_22574374_G->A 14 22574374 22574374 G A snp 72.28 1/1 9 3 0 3 1.0 intergenic rs4982558 OR4E2 AU 0.921925 0.9415 Uncertain 14_22580570_C->G 14 22580570 22580570 C G snp 994.77 1/1 72 32 0 32 1.0 intergenic rs1040301 OR4E2 AU 0.748602 0.7252 Uncertain 14_22580623_G->T 14 22580623 22580623 G T snp 658.77 0/1 99 50 24 26 0.52 intergenic rs1040302 OR4E2 AU 0.290735 0.3889 Uncertain 14_22581071_G->A 14 22581071 22581071 G A snp 218.84 1/1 18 6 0 6 1.0 intergenic rs10130061 OR4E2 AU 0.936502 0.9484 Uncertain 14_22591988_C->A 14 22591988 22591988 C A snp 1438.77 0/1 99 114 51 63 0.55 intergenic rs2272550 OR4E2 AU 0.262181 0.3244 0.259921 0.3008 0.3205 Uncertain 14_22600490_C->T 14 22600490 22600490 C T snp 1508.77 0/1 99 127 66 61 0.48 intergenic rs8014493 OR4E2 AU 0.198283 0.1478 0.196811 0.2277 0.1511 Uncertain 14_22616547_A->G 14 22616547 22616547 A G snp 1800.77 1/1 99 67 1 66 0.99 intergenic rs2293730 OR4E2 AU 0.390176 0.626 0.272087 0.3267 0.6369 Uncertain 14_22631217_C->T 14 22631217 22631217 C T snp 2349.77 1/1 99 80 0 80 1.0 intergenic rs2075492 OR4E2 AU 0.368211 0.6141 0.271819 0.3242 0.6330 Uncertain 14_22631678_C->T 14 22631678 22631678 C T snp 3377.77 1/1 99 135 2 133 0.99 intergenic rs2075493 OR4E2 AU 0.363219 0.6141 0.271381 0.3318 0.6337 Uncertain 14_22636784_A->C 14 22636784 22636784 A C snp 3384.77 1/1 99 124 0 124 1.0 intergenic rs11157435 OR4E2 AU 0.321286 0.627 0.234262 0.3122 0.6392 Uncertain 14_22636874_C->T 14 22636874 22636874 C T snp 2199.77 1/1 99 83 0 83 1.0 intergenic rs11157436 OR4E2 AU 0.286542 0.6141 0.163318 0.2653 0.6337 Uncertain 14_22636954_C->T 14 22636954 22636954 C T snp 662.77 1/1 48 23 0 23 1.0 intergenic rs11157437 OR4E2 AU 0.314896 0.6141 Uncertain 14_22670458_C->T 14 22670458 22670458 C T snp 3739.77 1/1 99 125 0 125 1.0 intergenic rs2075494 OR4E2 AU 0.290935 0.6101 0.169356 0.2616 0.6325 Uncertain 14_22670975_G->A 14 22670975 22670975 G A snp 2563.77 1/1 99 97 0 97 1.0 intergenic rs2242542 OR4E2 AU 0.291134 0.6111 0.170356 0.2664 0.6336 Uncertain 14_22690209_A->C 14 22690209 22690209 A C snp 2582.77 1/1 99 93 0 93 1.0 intergenic rs2272551 OR4E2 AU 0.870208 0.9008 0.860568 0.8517 0.8889 Uncertain 14_22695084_C->T 14 22695084 22695084 C T snp 2840.77 1/1 99 100 0 100 1.0 intergenic rs4982579 OR4E2 AU 0.876597 0.9008 0.868960 0.8526 0.8860 Uncertain 14_22733490_A->G 14 22733490 22733490 A G snp 70.77 0/1 99 11 7 4 0.36 intergenic rs7147374 OR4E2 AU 0.298922 0.3542 Uncertain 14_22733655_G->C 14 22733655 22733655 G C snp 542.77 0/1 99 59 36 23 0.39 intergenic rs7145658 OR4E2 AU 0.298922 0.3542 Uncertain 14_22733657_T->C 14 22733657 22733657 T C snp 529.77 0/1 99 59 36 23 0.39 intergenic rs7152255 OR4E2 AU 0.298922 0.3542 Uncertain 14_22733694_C->G 14 22733694 22733694 C G snp 619.77 0/1 99 58 32 26 0.45 intergenic rs7147116 OR4E2 AU 0.299121 0.3552 0.2158 0.375 Uncertain 14_22733758_G->T 14 22733758 22733758 G T snp 533.77 0/1 99 40 18 22 0.55 intergenic rs7145836 OR4E2 AU 0.302915 0.3542 0.1639 0.3387 Uncertain 14_22733893_C->T 14 22733893 22733893 C T snp 155.77 0/1 99 11 5 6 0.55 intergenic rs12589879 OR4E2 AU 0.273562 0.3542 Uncertain 14_22739862_A->T 14 22739862 22739862 A T snp 551.77 0/1 99 53 30 23 0.43 intergenic rs2075500 OR4E2 AU 0.344848 0.4454 0.284191 0.2757 0.4785 Uncertain 14_22740245_A->G 14 22740245 22740245 A G snp 1678.77 0/1 99 126 55 71 0.56 intergenic rs2075501 OR4E2 AU 0.345048 0.4454 0.285147 0.2758 0.4780 Uncertain 14_22740270_G->A 14 22740270 22740270 G A snp 1765.77 0/1 99 124 53 71 0.57 intergenic rs2075502 OR4E2 AU 0.345048 0.4454 0.284590 0.2757 0.4789 Uncertain 14_22749282_G->C 14 22749282 22749282 G C snp 891.77 0/1 99 102 65 37 0.36 intergenic rs2075503 OR4E2 AU 0.348642 0.4524 0.256183 0.2701 0.4730 Uncertain 14_22749807_G->A 14 22749807 22749807 G A snp 864.77 0/1 99 54 17 37 0.69 intergenic rs59234370 OR4E2 AU 0.124201 0.3492 0.065998 0.1334 0.4242 Uncertain 14_22772123_C->T 14 22772123 22772123 C T snp 2421.77 1/1 99 71 0 71 1.0 intergenic rs2009858 OR4E2 AU 0.308506 0.125 0.343310 0.2760 0.15 Uncertain 14_22772136_G->A 14 22772136 22772136 G A snp 1360.77 0/1 99 87 37 50 0.57 intergenic rs1000036 OR4E2 AU 0.0573083 0.0179 0.050092 0.0217 0.0263 Uncertain 14_22892139_C->T 14 22892139 22892139 C T snp 58.77 0/1 87 10 6 4 0.4 intergenic rs75422358 OR4E2 AU 0.159944 0.1806 Uncertain 14_22934914_G->A 14 22934914 22934914 G A snp 1057.77 0/1 99 97 53 44 0.45 intergenic rs112833517 OR4E2 AU 0.0185703 0.0337 0.020284 0.0246 0.0361 Uncertain 14_22942890_G->T 14 22942890 22942890 G T snp 315.77 0/1 99 48 32 16 0.33 intergenic rs2254272 OR4E2 AU 0.783347 0.7996 0.7172 0.8182 Uncertain 14_22947814_G->A 14 22947814 22947814 G A snp 1188.77 1/1 84 46 0 46 1.0 intergenic rs227858 OR4E2 AU 0.599441 0.5208 0.620935 0.6742 0.5313 Uncertain 14_22948471_T->C 14 22948471 22948471 T C snp 5224.77 1/1 99 194 0 194 1.0 intergenic rs227859 OR4E2 AU 0.590256 0.5208 0.608677 0.6629 0.5119 Uncertain 14_22952088_G->A 14 22952088 22952088 G A snp 4045.77 1/1 99 158 0 158 1.0 intergenic rs227861 OR4E2 AU 0.75 0.8353 0.790704 0.8077 0.8285 Uncertain 14_22955250_A->- 14 22955250 22955250 A - indel 2061.73 0/1 99 101 48 53 0.52 intergenic rs143418056 OR4E2 AU 0.013778 0.0605 0.000863 0.0072 0.0763 Uncertain 14_22958351_TGCC->- 14 22958351 22958354 TGCC - indel 699.73 0/1 99 20 7 13 0.65 intergenic rs35682462 OR4E2 AU Uncertain 14_22961854_A->G 14 22961854 22961854 A G snp 1384.77 0/1 99 120 59 61 0.51 intergenic rs17255862 OR4E2 AU 0.334864 0.5407 0.259793 0.4071 0.5802 Uncertain 14_22963632_-->C 14 22963632 22963632 - C indel 287.75 1/1 24 8 0 8 1.0 intergenic rs11372266 OR4E2 AU 1 1 Uncertain 14_22963646_T->C 14 22963646 22963646 T C snp 100.77 0/1 99 14 9 5 0.36 intergenic rs226985 OR4E2 AU 0.209465 0.3194 Uncertain 14_22964840_-->G 14 22964840 22964840 - G indel 1130.73 1/1 87 29 0 29 1.0 intergenic rs137998884 OR4E2 AU 1 1 1 1 Uncertain 14_22964880_A->C 14 22964880 22964880 A C snp 204.77 0/1 99 50 40 10 0.2 intergenic rs226986 OR4E2 AU 0.209065 0.3194 0.257724 0.2673 0.3548 Uncertain 14_22965119_C->- 14 22965119 22965119 C - indel 514.73 1/1 39 13 0 13 1.0 intergenic rs11334443 OR4E2 AU 1 1 Uncertain 14_22965145_C->- 14 22965145 22965145 C - indel 235.8 1/1 18 6 0 6 1.0 intergenic rs11334442 OR4E2 AU 1 1 Uncertain 14_22970461_C->G 14 22970461 22970461 C G snp 293.77 0/1 99 19 9 10 0.53 intergenic rs117531582 OR4E2 AU 0.0217652 0.1052 Uncertain 14_22972622_A->G 14 22972622 22972622 A G snp 1270.77 1/1 96 40 0 40 1.0 intergenic rs226990 OR4E2 AU 0.977236 1 Uncertain 14_22972742_G->A 14 22972742 22972742 G A snp 1506.77 0/1 99 166 95 71 0.43 intergenic rs2170810 OR4E2 AU 0.59405 0.5655 0.604808 0.6881 0.5707 Uncertain 14_22972784_C->- 14 22972784 22972784 C - indel 6302.73 1/1 99 153 0 153 1.0 intergenic rs5807141 OR4E2 AU 1 1 1 1 Uncertain 14_22972815_C->T 14 22972815 22972815 C T snp 1280.77 0/1 99 126 70 56 0.44 intergenic rs2170811 OR4E2 AU 0.591254 0.5556 0.604297 0.6734 0.5527 Uncertain 14_22972844_A->G 14 22972844 22972844 A G snp 849.77 0/1 99 79 46 33 0.42 intergenic rs5020726 OR4E2 AU 0.592053 0.5605 0.602896 0.6527 0.5059 Uncertain 14_22972955_A->G 14 22972955 22972955 A G snp 41.77 0/1 70 4 2 2 0.5 intergenic rs6572493 OR4E2 AU 0.53734 0.5635 Uncertain 14_22974041_T->G 14 22974041 22974041 T G snp 1114.77 0/1 99 74 27 47 0.64 intergenic rs4343185 OR4E2 AU 0.593251 0.5268 0.621332 Uncertain 14_22974151_C->- 14 22974151 22974151 C - indel 6264.73 1/1 99 167 0 167 1.0 intergenic rs11324184 OR4E2 AU 1 1 1 1 Uncertain 14_22974256_A->C 14 22974256 22974256 A C snp 688.77 0/1 99 50 26 24 0.48 intergenic rs3811207 OR4E2 AU 0.591653 0.5268 Uncertain 14_22975476_A->G 14 22975476 22975476 A G snp 435.77 0/1 99 37 20 17 0.46 intergenic rs3751470 OR4E2 AU 0.376997 0.4692 Uncertain 14_22975700_T->G 14 22975700 22975700 T G snp 1929.77 0/1 99 137 58 79 0.58 intergenic rs969914 OR4E2 AU 0.598243 0.5308 0.622144 0.6749 0.5117 Uncertain 14_22975728_G->A 14 22975728 22975728 G A snp 1464.77 0/1 99 99 37 62 0.63 intergenic rs3794450 OR4E2 AU 0.598642 0.5317 0.621257 0.6752 0.5142 Uncertain 14_22975755_T->C 14 22975755 22975755 T C snp 917.77 0/1 99 56 19 37 0.66 intergenic rs3794451 OR4E2 AU 0.592053 0.5308 Uncertain 14_22975756_-->CACACACACA 14 22975756 22975756 - CACACACACA indel 1828.73 0/1 99 56 11 45 0.8 intergenic rs112338851 OR4E2 AU 0.234225 0.3948 Uncertain 14_22976559_A->T 14 22976559 22976559 A T snp 398.77 0/1 99 23 9 14 0.61 intergenic rs1872160 OR4E2 AU 0.588059 0.5317 Uncertain 14_22978335_C->T 14 22978335 22978335 C T snp 2001.77 1/1 99 76 0 76 1.0 intergenic rs226997 OR4E2 AU 0.954872 1 0.955176 0.9870 1 Uncertain 14_22978451_-->C 14 22978451 22978451 - C indel 2836.73 1/1 99 69 0 69 1.0 intergenic rs11443893 OR4E2 AU 1 1 Uncertain 14_22978516_G->A 14 22978516 22978516 G A snp 170.77 0/1 99 28 20 8 0.29 intergenic rs226998 OR4E2 AU 0.388179 0.381 Uncertain 14_22978577_A->G 14 22978577 22978577 A G snp 299.78 1/1 24 10 0 10 1.0 intergenic rs226999 OR4E2 AU 0.845248 0.9167 Uncertain 14_22979847_-->A 14 22979847 22979847 - A indel 430.73 1/1 60 38 0 38 1.0 intergenic rs397754180 OR4E2 AU 0.907149 0.8968 Uncertain 14_22981801_C->G 14 22981801 22981801 C G snp 953.77 0/1 99 106 61 45 0.42 intergenic rs116222888 OR4E2 AU 0.0111821 0.0347 0.003719 0.0072 0.0708 Uncertain 14_22982069_-->G 14 22982069 22982069 - G indel 287.75 1/1 24 8 0 8 1.0 intergenic rs11444527 OR4E2 AU 0.9998 1 Uncertain 14_22983223_T->C 14 22983223 22983223 T C snp 153.77 0/1 99 9 4 5 0.56 intergenic rs170544 OR4E2 AU 0.826078 0.9653 Uncertain 14_22984499_C->T 14 22984499 22984499 C T snp 467.77 1/1 36 13 0 13 1.0 intergenic rs227027 OR4E2 AU 1 1 Uncertain 14_22984500_-->GTT 14 22984500 22984500 - GTT indel 703.73 1/1 39 13 0 13 1.0 intergenic rs144430862 OR4E2 AU 1 1 Uncertain 14_22985463_G->A 14 22985463 22985463 G A snp 997.77 1/1 75 27 0 27 1.0 intergenic rs227029 OR4E2 AU 0.934105 1 Uncertain 14_22985487_-->C 14 22985487 22985487 - C indel 861.73 1/1 60 21 0 21 1.0 intergenic rs11453171 OR4E2 AU 0.996206 1 Uncertain 14_22988022_C->G 14 22988022 22988022 C G snp 331.77 0/1 99 23 10 13 0.57 intergenic rs227009 OR4E2 AU 0.840056 0.9643 Uncertain 14_22988748_G->A 14 22988748 22988748 G A snp 423.77 1/1 33 13 0 13 1.0 intergenic rs227010 OR4E2 AU 0.996406 1 Uncertain 14_22990930_-->T 14 22990930 22990930 - T indel 6505.73 1/1 99 144 0 144 1.0 intergenic rs11380759 OR4E2 AU 0.999601 1 Uncertain 14_22991210_T->C 14 22991210 22991210 T C snp 74.77 0/1 99 8 5 3 0.38 intergenic rs227012 OR4E2 AU 0.822484 0.9643 Uncertain 14_22993278_-->G 14 22993278 22993278 - G indel 2879.73 1/1 99 72 0 72 1.0 intergenic rs397744787 OR4E2 AU 1 1 0.999395 1 1 Uncertain 14_22993491_A->G 14 22993491 22993491 A G snp 811.77 0/1 99 57 23 34 0.6 intergenic rs227015 OR4E2 AU 0.343051 0.253 Uncertain 14_22993549_A->C 14 22993549 22993549 A C snp 383.77 1/1 30 10 0 10 1.0 intergenic rs227016 OR4E2 AU 0.537939 0.2887 Uncertain 14_22997524_A->G 14 22997524 22997524 A G snp 4657.77 1/1 99 171 1 170 0.99 intergenic rs227024 OR4E2 AU 0.811701 0.9583 0.680225 0.7380 0.9429 Uncertain 14_22997667_-->GC 14 22997667 22997667 - GC indel 406.75 1/1 24 8 0 8 1.0 intergenic rs3074418 OR4E2 AU 0.998802 0.998 Uncertain 14_22998591_G->- 14 22998591 22998591 G - indel 3257.73 1/1 99 82 0 82 1.0 intergenic rs398024538 OR4E2 AU 1 1 0.999913 1.0000 1 Uncertain 14_22998620_C->- 14 22998620 22998620 C - indel 2728.73 1/1 99 73 0 73 1.0 intergenic rs5807162 OR4E2 AU 1 1 0.999827 1 1 Uncertain 14_22999179_-->C 14 22999179 22999179 - C indel 1986.73 1/1 99 50 0 50 1.0 intergenic rs11412657 OR4E2 AU 1 1 Uncertain 14_22999202_-->G 14 22999202 22999202 - G indel 3012.73 1/1 99 72 0 72 1.0 intergenic rs11412658 OR4E2 AU Uncertain 14_23000062_T->C 14 23000062 23000062 T C snp 5066.77 1/1 99 172 0 172 1.0 intergenic rs227003 OR4E2 AU 0.811901 0.9583 0.684105 0.7214 0.9421 Uncertain 14_23000158_A->G 14 23000158 23000158 A G snp 2013.77 0/1 99 180 95 85 0.47 intergenic rs75856474 OR4E2 AU 0.0107827 0.0357 0.004161 Uncertain 14_23000185_C->T 14 23000185 23000185 C T snp 4023.77 1/1 99 144 0 144 1.0 intergenic rs227004 OR4E2 AU 0.994808 1 Uncertain 14_23001388_T->A 14 23001388 23001388 T A snp 1493.77 1/1 99 45 0 45 1.0 intergenic rs227006 OR4E2 AU 0.812101 0.9583 0.677398 Uncertain 14_23002251_A->T 14 23002251 23002251 A T snp 176.77 0/1 99 11 5 6 0.55 intergenic rs150127978 OR4E2 AU 0.0109824 0.0357 Uncertain 14_23002266_C->- 14 23002266 23002266 C - indel 724.73 1/1 57 19 0 19 1.0 intergenic rs11289756 OR4E2 AU 0.9998 1 Uncertain 14_23004548_T->C 14 23004548 23004548 T C snp 552.77 0/1 99 52 24 28 0.54 intergenic rs143973826 OR4E2 AU 0.00738818 0.0357 0.000169 0.0037 0.0488 Uncertain 14_23005041_-->G 14 23005041 23005041 - G indel 7824.73 1/1 99 188 0 188 1.0 intergenic rs397796717 OR4E2 AU 1 1 Uncertain 14_23006663_-->C 14 23006663 23006663 - C indel 1023.73 1/1 75 29 0 29 1.0 intergenic rs11396434 OR4E2 AU 0.998802 1 0.9999 1 Uncertain 14_23006674_G->C 14 23006674 23006674 G C snp 252.77 0/1 99 23 14 9 0.39 intergenic rs1154157 OR4E2 AU 0.67492 0.7421 0.704247 0.6534 0.7380 Uncertain 14_23009291_G->C 14 23009291 23009291 G C snp 653.77 0/1 99 71 39 32 0.45 intergenic rs1263637 OR4E2 AU 0.666733 0.7083 0.696569 0.6626 0.7018 Uncertain 14_23014062_G->C 14 23014062 23014062 G C snp 637.77 0/1 99 58 29 29 0.5 intergenic rs1263641 OR4E2 AU 0.660543 0.6855 0.702269 0.6455 0.6864 Uncertain 14_23014106_C->G 14 23014106 23014106 C G snp 603.77 0/1 99 47 21 26 0.55 intergenic rs7153643 OR4E2 AU 0.263578 0.1696 0.368813 Uncertain 14_23014148_A->G 14 23014148 23014148 A G snp 418.77 0/1 99 37 19 18 0.49 intergenic rs1263642 OR4E2 AU 0.258586 0.5764 Uncertain 14_23014195_C->T 14 23014195 23014195 C T snp 133.77 0/1 99 21 13 8 0.38 intergenic rs79739285 OR4E2 AU 0.0169728 0.0347 Uncertain 14_23018665_C->G 14 23018665 23018665 C G snp 1449.77 1/1 99 55 0 55 1.0 intergenic rs1263653 OR4E2 AU 0.649161 0.8155 0.526589 0.5566 0.8259 Uncertain 14_23019647_C->T 14 23019647 23019647 C T snp 441.77 0/1 99 38 19 19 0.5 intergenic rs1800388 OR4E2 AU 0.0822684 0.0655 0.093014 0.0959 0.0778 Uncertain 14_23019657_C->G 14 23019657 23019657 C G snp 865.77 1/1 63 28 0 28 1.0 intergenic rs1263658 OR4E2 AU 0.515775 0.8313 0.338264 0.4362 0.8284 Uncertain 14_23020489_T->C 14 23020489 23020489 T C snp 680.77 1/1 51 22 0 22 1.0 intergenic rs371247 OR4E2 AU 0.773962 0.9375 Uncertain 14_23020638_T->C 14 23020638 23020638 T C snp 1526.77 0/1 99 132 67 65 0.49 intergenic rs15795 OR4E2 AU 0.298922 0.2113 0.361815 0.3228 0.1905 Uncertain 14_23020688_-->C 14 23020688 23020688 - C indel 6236.73 1/1 99 148 0 148 1.0 intergenic rs11462449 OR4E2 AU 1 1 1.0000 1 Uncertain 14_23020820_-->C 14 23020820 23020820 - C indel 5360.73 1/1 99 132 1 131 0.99 intergenic rs397703087 OR4E2 AU 1 1 1.0000 1 Uncertain 14_23020825_G->C 14 23020825 23020825 G C snp 3435.77 1/1 99 123 0 123 1.0 intergenic rs3699 OR4E2 AU 0.978235 1 0.956375 0.9568 0.9999 Uncertain 14_23020919_C->T 14 23020919 23020919 C T snp 3018.77 1/1 99 103 0 103 1.0 intergenic rs3700 OR4E2 AU 0.66234 0.873 0.594118 0.6687 0.9007 Uncertain 14_23020921_G->C 14 23020921 23020921 G C snp 3090.77 1/1 99 104 0 104 1.0 intergenic rs3701 OR4E2 AU 0.444489 0.7748 0.293466 0.4339 0.8094 Uncertain 14_23020970_G->T 14 23020970 23020970 G T snp 2457.77 1/1 99 89 0 89 1.0 intergenic rs3702 OR4E2 AU 0.657149 0.874 0.594702 0.6655 0.8990 Uncertain 14_23021039_G->A 14 23021039 23021039 G A snp 1976.77 1/1 99 71 0 71 1.0 intergenic rs9125 OR4E2 AU 0.486222 0.8581 0.382239 0.5057 0.8902 Uncertain 14_23025932_A->T 14 23025932 23025932 A T snp 1635.77 1/1 99 58 0 58 1.0 intergenic rs12888861 OR4E2 AU 0.628395 0.8264 0.6974 0.8106 Uncertain 14_23025946_C->T 14 23025946 23025946 C T snp 966.77 0/1 99 63 23 40 0.63 intergenic rs74036418 OR4E2 AU 0.131989 0.129 0.1521 0.1061 -1.014 T Uncertain 14_23026369_-->G 14 23026369 23026369 - G indel 531.73 1/1 42 14 0 14 1.0 intergenic rs33982989 OR4E2 AU 1 1 Uncertain 14_23027743_G->C 14 23027743 23027743 G C snp 2168.77 1/1 99 75 0 75 1.0 intergenic rs4982639 OR4E2 AU 0.477636 0.6111 Uncertain 14_23033838_G->A 14 23033838 23033838 G A snp 238.77 0/1 99 23 14 9 0.39 UTR3 rs1051189 DAD1 AU 0.126597 0.1458 Uncertain 14_23044002_G->T 14 23044002 23044002 G T snp 1570.77 1/1 99 57 0 57 1.0 UTR3 rs7621 DAD1 AU 0.76258 0.7599 0.730817 0.7153 0.7831 Uncertain 14_23058084_A->G 14 23058084 23058084 A G snp 3105.77 1/1 99 104 0 104 1.0 UTR5 rs1051101 DAD1 AU 0.802316 0.8145 0.774412 0.7733 0.8290 Uncertain 14_23069387_C->T 14 23069387 23069387 C T snp 77.77 0/1 30 4 1 3 0.75 intronic rs8017652 ABHD4 AU NM_022060 exon2 c.3356-1184C>T 0.332668 0.4841 Uncertain 14_23070613_C->T 14 23070613 23070613 C T snp 1776.77 0/1 99 190 115 75 0.39 exonic ABHD4 AU nonsynonymous SNV NM_022060 exon2 c.C65T p.P22L 0.33 T 1 D 0.166 D 0.999 D 0.981 D Pathogenic 14_23072194_G->T 14 23072194 23072194 G T snp 394.77 0/1 99 25 10 15 0.6 intronic rs8023110 ABHD4 AU NM_022060 exon3 c.5079-100G>T 0.298722 0.0605 Uncertain 14_23072761_C->A 14 23072761 23072761 C A snp 884.77 0/1 99 85 48 37 0.44 intronic rs12879942 ABHD4 AU NM_022060 exon4 c.5614-68C>A 0.0505192 0.0546 Uncertain 14_23079730_A->G 14 23079730 23079730 A G snp 82.77 0/1 99 10 5 5 0.5 intronic rs1242933 ABHD4 AU NM_022060 exon7 c.12549-34A>G 0.55631 0.2629 0.601645 0.5024 0.2149 Uncertain 14_23235697_C->T 14 23235697 23235697 C T snp 6086.77 1/1 99 219 0 219 1.0 upstream rs1957373 OXA1L AU 0.394768 0.6776 0.338152 0.4475 0.7117 Uncertain 14_23235808_G->A 14 23235808 23235808 G A snp 7180.77 1/1 99 250 0 250 1.0 exonic rs1957374 OXA1L AU synonymous SNV NM_005015 exon1 c.G78A p.L26L 0.393171 0.6776 0.338382 0.4436 0.7122 Uncertain 14_23235814_A->G 14 23235814 23235814 A G snp 2728.77 0/1 99 249 141 108 0.43 exonic rs115270871 OXA1L AU synonymous SNV NM_005015 exon1 c.A84G p.L28L 0.000599042 0.003 0.0004 0.0027 Uncertain 14_23236524_C->T 14 23236524 23236524 C T snp 2589.77 1/1 99 94 0 94 1.0 exonic rs8572 OXA1L AU nonsynonymous SNV NM_005015 exon2 c.C311T p.A104V 0.771765 0.869 0.769722 0.8280 0.8783 0.04 T 0.0 P -1.081 T 0.001 T 0.001 T Pathogenic 14_23239512_A->G 14 23239512 23239512 A G snp 6397.77 1/1 99 214 0 214 1.0 intronic rs2075846 OXA1L AU NM_005015 exon5 c.3757+25A>G 0.396366 0.6954 0.337306 0.4477 0.7435 Uncertain 14_23239880_G->A 14 23239880 23239880 G A snp 1482.77 1/1 99 46 0 46 1.0 intronic rs1957502 OXA1L AU NM_005015 exon6 c.4104+46G>A 0.770367 0.869 0.767261 0.8268 0.8773 Uncertain 14_23242828_T->C 14 23242828 23242828 T C snp 3411.77 1/1 99 125 0 125 1.0 exonic rs1061040 SLC7A7 AR synonymous SNV NM_001126106 exon11 c.A1527G p.K509K 0.785543 0.9296 0.769183 0.8651 0.9324 CLINSIG=non-pathogenic;CLNDBN=not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000128147.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Uncertain 14_23244929_A->T 14 23244929 23244929 A T snp 138.77 0/1 99 12 7 5 0.42 intronic rs3751485 SLC7A7 AR NM_001126106 exon5 c.2223-112A>T 0.241813 0.3681 Uncertain 14_23245301_T->C 14 23245301 23245301 T C snp 1484.77 1/1 99 44 0 44 1.0 intronic rs3850290 SLC7A7 AR NM_001126106 exon6 c.2585-102T>C 0.563898 0.8135 Uncertain 14_23249292_A->G 14 23249292 23249292 A G snp 845.77 0/1 99 67 31 36 0.54 intronic rs11568429 SLC7A7 AR NM_001126106 exon8 c.6442+32A>G 0.234026 0.3264 0.194218 0.2515 0.3330 Uncertain 14_23282110_A->G 14 23282110 23282110 A G snp 690.77 1/1 51 23 0 23 1.0 exonic rs8018462 SLC7A7 AR synonymous SNV NM_001126106 exon3 c.T498C p.I166I 0.582069 0.7847 0.507394 0.5603 0.7935 CLINSIG=non-pathogenic;CLNDBN=not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000128149.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Uncertain 14_23282449_C->T 14 23282449 23282449 C T snp 4508.77 1/1 99 165 0 165 1.0 exonic rs1805059 SLC7A7 AR synonymous SNV NM_001126106 exon3 c.G159A p.S53S 0.60603 0.7857 0.562433 0.6073 0.7935 CLINSIG=non-pathogenic;CLNDBN=not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000128148.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Uncertain 14_23282699_A->T 14 23282699 23282699 A T snp 1118.77 1/1 81 39 0 39 1.0 intronic rs3829407 SLC7A7 AR NM_001126106 exon9 c.39831+50A>T 0.60603 0.7857 0.6062 0.7965 Uncertain 14_23282750_A->C 14 23282750 23282750 A C snp 348.78 1/1 27 11 0 11 1.0 intronic rs7157654 SLC7A7 AR NM_001126106 exon9 c.39831+101A>C 0.60643 0.7857 Uncertain 14_23299135_G->T 14 23299135 23299135 G T snp 1205.77 0/1 99 123 70 53 0.43 exonic rs1135641 MRPL52 AU nonsynonymous SNV NM_178336 exon1 c.G14T p.G5V 0.514177 0.5516 0.515995 0.5382 0.5870 0.11 T 0.000 P -0.937 T 0.133 T 0.144 T Pathogenic 14_23299286_T->C 14 23299286 23299286 T C snp 4927.77 1/1 99 165 0 165 1.0 exonic rs4982685 MRPL52 AU nonsynonymous SNV NM_178336 exon2 c.T56C p.V19A 0.867612 0.998 0.835666 0.8520 0.9985 0.94 T 0.000 P -1.003 T 0.0 T 0.0 T Pathogenic 14_23300095_T->G 14 23300095 23300095 T G snp 4163.77 1/1 99 151 0 151 1.0 intronic rs9646148 MRPL52 AU NM_181307 exon3 c.342+632T>G 0.867612 0.998 Uncertain 14_23302585_T->A 14 23302585 23302585 T A snp 1483.77 1/1 99 54 0 54 1.0 intronic rs12050397 MRPL52 AU NM_180982 exon4 c.3505-41T>A 0.867412 0.998 0.835461 0.8523 0.9986 Uncertain 14_23303228_G->C 14 23303228 23303228 G C snp 153.77 0/1 99 10 5 5 0.5 intronic rs76083086 MRPL52 AU NM_181306 exon5 c.734-152G>C 0.0391374 0.0774 Uncertain 14_23306048_C->T 14 23306048 23306048 C T snp 2952.77 1/1 99 103 1 102 0.99 exonic rs1042703 MMP14 AU nonsynonymous SNV NM_004995 exon1 c.C22T p.P8S 0.867612 0.998 0.834487 0.8573 0.9986 0.64 T 0.0 P -0.993 T 0.0 T 0.0 T Pathogenic 14_23311043_T->- 14 23311043 23311043 T - indel 425.73 1/1 33 12 0 12 1.0 intronic rs17879412 MMP14 AU NM_004995 exon3 c.5095-78delT 0.866214 0.998 Uncertain 14_23311044_T->C 14 23311044 23311044 T C snp 385.77 1/1 30 11 0 11 1.0 intronic rs57542488 MMP14 AU NM_004995 exon3 c.5095-77T>C 0.866214 0.998 Uncertain 14_23312718_C->T 14 23312718 23312718 C T snp 824.77 0/1 99 50 20 30 0.6 intronic rs2236303 MMP14 AU NM_004995 exon5 c.6601+91C>T 0.282748 0.499 Uncertain 14_23312863_C->G 14 23312863 23312863 C G snp 398.77 0/1 99 24 12 12 0.5 intronic rs2236304 MMP14 AU NM_004995 exon6 c.6892-55C>G 0.288938 0.4881 Uncertain 14_23312869_G->T 14 23312869 23312869 G T snp 412.77 0/1 99 35 20 15 0.43 intronic rs2236305 MMP14 AU NM_004995 exon6 c.6892-49G>T 0.250399 0.3552 0.216131 0.2083 0.3739 Uncertain 14_23312875_G->C 14 23312875 23312875 G C snp 561.77 0/1 99 44 26 18 0.41 intronic rs2236306 MMP14 AU NM_004995 exon6 c.6892-43G>C 0.272764 0.3552 0.227126 0.2235 0.3735 Uncertain 14_23312923_T->C 14 23312923 23312923 T C snp 1691.77 0/1 99 162 82 80 0.49 exonic rs2236307 MMP14 AU synonymous SNV NM_004995 exon6 c.T855C p.G285G 0.271565 0.3562 0.242888 0.2250 0.3823 Uncertain 14_23313182_A->G 14 23313182 23313182 A G snp 258.77 0/1 99 24 13 11 0.46 intronic rs2236308 MMP14 AU NM_004995 exon6 c.7053+103A>G 0.346046 0.5109 Uncertain 14_23314675_C->T 14 23314675 23314675 C T snp 1063.77 1/1 78 31 0 31 1.0 intronic rs911912 MMP14 AU NM_004995 exon9 c.8549+100C>T 0.968251 1 Uncertain 14_23315331_T->C 14 23315331 23315331 T C snp 194.77 0/1 89 11 4 7 0.64 UTR3 rs743257 MMP14 AU 0.616214 0.5893 Uncertain 14_23344800_T->C 14 23344800 23344800 T C snp 2155.77 0/1 99 202 113 89 0.44 exonic rs200366546 LRP10 AU nonsynonymous SNV NM_014045 exon5 c.T643C p.S215P 0.00379393 0.0188 0.0009 0.0132 1 T 0.687 N -0.988 T 0.001 T 0.002 T Pathogenic 14_23348194_T->C 14 23348194 23348194 T C snp 31.77 0/1 60 6 4 2 0.33 downstream rs11623552 LRP10 AU 0.16873 0.131 Uncertain 14_23352386_C->G 14 23352386 23352386 C G snp 177.77 0/1 99 15 9 6 0.4 upstream rs2877492 REM2 AU 0.568291 0.8244 Uncertain 14_23352386_-->G 14 23352386 23352386 - G indel 96.94 0/1 13 15 3 12 0.8 upstream rs368975443 REM2 AU Uncertain 14_23352465_GCACACGCACAC->- 14 23352465 23352476 GCACACGCACAC - indel 11798.7 0/1 99 152 65 87 0.57 UTR5 rs779951339 REM2 AU 0.064278 0.0610 0.0227 Uncertain 14_23355548_G->A 14 23355548 23355548 G A snp 397.77 0/1 99 32 16 16 0.5 intronic rs3751490 REM2 AU NM_173527 exon4 c.2944+108G>A 0.110623 0.1696 Uncertain 14_23371055_G->C 14 23371055 23371055 G C snp 5323.77 1/1 99 191 1 190 0.99 exonic rs1127066 RBM23 AU nonsynonymous SNV NM_001077352 exon11 c.C1182G p.F394L 0.214856 0.2649 0.233070 0.2709 0.2903 0.55 T 0.998 P -1.010 T 0.09 T 0.047 T Pathogenic 14_23371255_-->GGC 14 23371255 23371255 - GGC indel 11683.7 1/1 99 246 1 245 1.0 exonic rs397812315 RBM23 AU nonframeshift insertion NM_001077352 exon10 c.1077_1078insGCC p.Q360delinsAQ 0.522364 0.8363 0.462769 0.5538 0.7518 ID=COSM1369103;OCCURENCE=2(large_intestine),3(breast) Uncertain 14_23373986_G->A 14 23373986 23373986 G A snp 2081.77 1/1 99 73 0 73 1.0 intronic rs1043209 RBM23 AU NM_001077352 exon6 c.3145-97G>A 0.627596 0.8016 Uncertain 14_23374435_G->A 14 23374435 23374435 G A snp 2900.77 1/1 99 102 0 102 1.0 exonic rs2295680 RBM23 AU synonymous SNV NM_001077352 exon6 c.C492T p.I164I 0.516174 0.8016 0.421431 0.5803 0.7878 Uncertain 14_23374862_C->T 14 23374862 23374862 C T snp 4882.77 1/1 99 173 0 173 1.0 exonic rs2295682 RBM23 AU synonymous SNV NM_018107 exon5 c.G360A p.R120R 0.515575 0.8016 0.430242 0.5805 0.7882 Uncertain 14_23375251_A->G 14 23375251 23375251 A G snp 172.9 1/1 15 5 0 5 1.0 intronic rs8015121 RBM23 AU NM_001077352 exon9 c.4465-152A>G 0.79353 0.9514 Uncertain 14_23389685_T->C 14 23389685 23389685 T C snp 287.77 0/1 99 22 12 10 0.45 ncRNA_exonic rs148123912 PRMT5-AS1 AU 0.00519169 0.0258 Uncertain 14_23391533_-->ACAA 14 23391533 23391533 - ACAA indel 2938.73 1/1 99 48 0 48 1.0 ncRNA_intronic rs144411999 PRMT5-AS1 AU 0.629992 0.8016 Uncertain 14_23391913_T->C 14 23391913 23391913 T C snp 1707.77 1/1 99 54 0 54 1.0 ncRNA_intronic rs8007089 PRMT5-AS1 AU 0.805511 0.9514 0.732739 0.8011 0.9564 Uncertain 14_23394007_T->C 14 23394007 23394007 T C snp 1065.77 1/1 78 30 0 30 1.0 intronic rs1956880 PRMT5 AU NM_001282953 exon10 c.3975-80T>C 0.629393 0.8016 Uncertain 14_23394069_A->C 14 23394069 23394069 A C snp 875.77 1/1 63 29 0 29 1.0 intronic rs1956881 PRMT5 AU NM_001282953 exon10 c.3975-18A>C 0.629593 0.8016 0.538521 0.6320 0.7895 Uncertain 14_23396600_C->G 14 23396600 23396600 C G snp 46.74 1/1 6 2 0 2 1.0 intronic rs10130756 PRMT5 AU NM_001282953 exon14 c.6622-134C>G 0.629593 0.8016 Uncertain 14_23396680_T->C 14 23396680 23396680 T C snp 527.77 1/1 39 18 0 18 1.0 intronic rs12589539 PRMT5 AU NM_001282953 exon14 c.6622-54T>C 0.523962 0.8016 Uncertain 14_23416252_C->G 14 23416252 23416252 C G snp 1862.77 1/1 99 58 1 57 0.98 ncRNA_intronic rs2008951 LOC101926933 AU 0.484625 0.7976 Uncertain 14_23424186_A->G 14 23424186 23424186 A G snp 1781.77 1/1 99 64 0 64 1.0 intronic rs2016392 HAUS4 AU NM_001166269 exon9 c.8575-122A>G 0.825679 0.9494 Uncertain 14_23426182_C->A 14 23426182 23426182 C A snp 3362.77 1/1 99 135 1 134 0.99 ncRNA_exonic rs2273626 MIR4707 AU 0.479832 0.7966 0.25 . Uncertain 14_23504238_G->A 14 23504238 23504238 G A snp 307.78 1/1 24 9 0 9 1.0 UTR5 rs4144360 PSMB5 AU 1 1 Uncertain 14_23511357_G->C 14 23511357 23511357 G C snp 124.77 0/1 99 9 3 6 0.67 upstream rs4981456 PSMB11 AU 0.6248 0.6081 Uncertain 14_23530622_T->C 14 23530622 23530622 T C snp 1246.77 0/1 99 150 94 56 0.37 exonic rs60168438 ACIN1 AU synonymous SNV NM_001164816 exon10 c.A1302G p.S434S 0.245008 0.2708 0.251192 0.2393 0.2716 Uncertain 14_23530739_T->G 14 23530739 23530739 T G snp 75.77 0/1 99 38 29 9 0.24 exonic rs139086496 ACIN1 AU synonymous SNV NM_001164816 exon10 c.A1185C p.P395P Uncertain 14_23530745_T->G 14 23530745 23530745 T G snp 165.77 0/1 99 32 21 11 0.34 exonic ACIN1 AU synonymous SNV NM_001164816 exon10 c.A1179C p.P393P Uncertain 14_23530999_G->A 14 23530999 23530999 G A snp 130.03 1/1 12 4 0 4 1.0 intronic rs28488965 ACIN1 AU NM_001164814 exon3 c.2475+168G>A 0.989018 1 Uncertain 14_23548783_-->GAACGT 14 23548783 23548783 - GAACGT indel 5453.73 0/1 99 195 105 90 0.46 exonic rs148403158 ACIN1 AU nonframeshift insertion NM_001164815 exon5 c.1814_1815insACGTTC p.S605delinsSRS 0.38778 0.4226 0.3016 0.4255 ID=COSM1162679;OCCURENCE=1(pancreas),1(large_intestine) Uncertain 14_23549319_A->G 14 23549319 23549319 A G snp 1087.77 0/1 99 104 54 50 0.48 exonic rs1885097 ACIN1 AU nonsynonymous SNV NM_001164815 exon5 c.T1279C p.S427P 0.428315 0.3948 0.445256 0.4226 0.3538 0.02 T 0.000 P -0.926 T 0.002 T 0.004 T Pathogenic 14_23549379_C->G 14 23549379 23549379 C G snp 2913.77 1/1 99 104 0 104 1.0 exonic rs941719 ACIN1 AU nonsynonymous SNV NM_001164815 exon5 c.G1219C p.A407P 0.999601 1 0.996617 0.9972 0.9999 1 T 0.000 P -0.939 T 0.0 T 0.0 T Pathogenic 14_23549785_T->C 14 23549785 23549785 T C snp 2237.77 0/1 99 213 115 98 0.46 exonic rs3811182 ACIN1 AU nonsynonymous SNV NM_001164815 exon5 c.A813G p.I271M 0.500799 0.4554 0.493003 0.4434 0.4302 0.25 T 0.0 P -1.013 T 0.001 T 0.002 T Pathogenic 14_23550126_T->C 14 23550126 23550126 T C snp 450.77 0/1 99 47 29 18 0.38 intronic rs4982727 ACIN1 AU NM_001164814 exon14 c.21662+108T>C 0.392971 0.3948 Uncertain 14_23550887_C->A 14 23550887 23550887 C A snp 2454.77 0/1 99 199 99 100 0.5 intronic rs717984 ACIN1 AU NM_001164814 exon15 c.22600-69C>A 0.485024 0.3948 Uncertain 14_23571671_A->T 14 23571671 23571671 A T snp 5716.77 1/1 99 181 0 181 1.0 intergenic rs4444236 C14orf119 AU 0.976637 1 0.9961 1 Uncertain 14_23572776_T->C 14 23572776 23572776 T C snp 136.77 0/1 99 32 24 8 0.25 intergenic rs72684326 C14orf119 AU Uncertain 14_23572776_-->AAAAC 14 23572776 23572776 - AAAAC indel 2796.73 ./1 99 32 0 32 1.0 intergenic rs148655160 C14orf119 AU 0.882588 0.8968 Uncertain 14_23572776_-->AAAACAAAAC 14 23572776 23572776 - AAAACAAAAC indel 2796.73 ./1 99 32 0 32 1.0 intergenic rs148655160 C14orf119 AU Uncertain 14_23596320_A->G 14 23596320 23596320 A G snp 212.84 1/1 18 6 0 6 1.0 UTR3 rs761874 SLC7A8 AU 0.660743 0.7758 Uncertain 14_23596740_A->G 14 23596740 23596740 A G snp 129.03 1/1 12 4 0 4 1.0 intronic rs11625112 SLC7A8 AU NM_182728 exon1 c.167+188A>G 0.523363 0.5903 Uncertain 14_23598952_A->G 14 23598952 23598952 A G snp 3563.77 1/1 99 129 0 129 1.0 exonic rs7157021 SLC7A8 AU synonymous SNV NM_001267037 exon6 c.T498C p.Y166Y 0.670927 0.8075 0.587344 0.6096 0.8031 0.13 T 1.0 P -1.017 T Likely benign 14_23600662_G->T 14 23600662 23600662 G T snp 1878.77 1/1 99 63 0 63 1.0 intronic rs12436035 SLC7A8 AU NM_182728 exon4 c.4284-7G>T 0.196486 0.0605 0.186529 0.2731 0.0548 Uncertain 14_23607271_C->T 14 23607271 23607271 C T snp 906.77 0/1 99 74 37 37 0.5 intronic rs1569951 SLC7A8 AU NM_182728 exon5 c.10848+38C>T 0.39377 0.4772 0.384284 0.4821 0.4685 Uncertain 14_23609916_A->T 14 23609916 23609916 A T snp 182.9 1/1 15 6 0 6 1.0 intronic rs10151002 SLC7A8 AU NM_182728 exon7 c.13448+83A>T 0.906749 1 Uncertain 14_23612489_C->G 14 23612489 23612489 C G snp 377.77 1/1 30 10 0 10 1.0 intronic rs2273394 SLC7A8 AU NM_182728 exon8 c.16028+76C>G 0.795727 0.8393 Uncertain 14_23624583_C->T 14 23624583 23624583 C T snp 452.77 0/1 99 43 24 19 0.44 UTR5 rs8011016 SLC7A8 AU 0.72504 0.9315 0.7639 0.9429 Uncertain 14_23744827_TCC->- 14 23744827 23744829 TCC - indel 390.73 0/1 99 19 7 12 0.63 exonic rs35076736 HOMEZ AU nonframeshift deletion NM_020834 exon2 c.1608_1610del p.536_537del 0.352037 0.1974 0.3729 0.2351 ID=COSM954652,COSM954651;OCCURENCE=1(endometrium),1(large_intestine) Uncertain 14_23744932_C->T 14 23744932 23744932 C T snp 896.77 0/1 99 70 29 41 0.59 exonic rs1055061 HOMEZ AU nonsynonymous SNV NM_020834 exon2 c.G1505A p.R502Q 0.137181 0.0704 0.096601 0.1016 0.0793 0.02 T 0.987 P -1.084 T 0.233 T 0.019 T Pathogenic 14_23746269_C->G 14 23746269 23746269 C G snp 1497.77 0/1 99 151 92 59 0.39 exonic rs1057119 HOMEZ AU synonymous SNV NM_020834 exon2 c.G168C p.T56T 0.182508 0.1766 0.184022 0.2022 0.1622 Uncertain 14_23771734_T->C 14 23771734 23771734 T C snp 1303.77 0/1 99 101 42 59 0.58 exonic rs75158392 PPP1R3E AU nonsynonymous SNV NM_001276318 exon1 c.A52G p.I18V 0.0123802 0.0595 0.0041 0.1118 0.65 T 1 D -1.056 T Pathogenic 14_23777099_G->A 14 23777099 23777099 G A snp 1798.77 0/1 99 177 108 69 0.39 exonic rs2231301 BCL2L2 AU synonymous SNV NM_001199864 exon3 c.G123A p.P41P 0.249002 0.4752 0.178714 0.2611 0.5122 Uncertain 14_23777374_A->G 14 23777374 23777374 A G snp 2122.77 1/1 99 72 0 72 1.0 exonic rs910332 BCL2L2 AU nonsynonymous SNV NM_001199864 exon3 c.A398G p.Q133R 0.999401 1 0.997693 0.9979 1 0.22 T 0.0 P -1.011 T 0.0 T 0.001 T Pathogenic 14_23789096_-->TT 14 23789096 23789096 - TT indel 2002.73 0/1 99 131 76 55 0.42 intronic rs10640563 BCL2L2-PABPN1 AU NM_001199864 exon4 c.14413-2293insTT 0.884784 0.9266 Uncertain 14_23792019_T->C 14 23792019 23792019 T C snp 289.77 0/1 99 22 12 10 0.45 intronic rs8020117 BCL2L2-PABPN1 AU NM_001199864 exon5 c.15231-188T>C 0.88758 0.9395 Uncertain 14_23816577_C->T 14 23816577 23816577 C T snp 314.77 0/1 99 20 10 10 0.5 intronic rs73604504 SLC22A17 AU NM_020372 exon3 c.812-91C>T 0.175719 0.0774 Uncertain 14_23816998_T->C 14 23816998 23816998 T C snp 2501.77 1/1 99 87 0 87 1.0 intronic rs12896494 SLC22A17 AU NM_001289050 exon3 c.1084+58T>C 0.653754 0.6667 Uncertain 14_23821361_G->A 14 23821361 23821361 G A snp 764.77 0/1 99 59 32 27 0.46 exonic rs72542466 SLC22A17 AU synonymous SNV NM_020372 exon1 c.C63T p.P21P 0.0836661 0.0913 0.041985 0.1073 0.1108 Uncertain 14_23826792_G->A 14 23826792 23826792 G A snp 878.77 0/1 99 87 50 37 0.43 exonic rs2231811 EFS AU synonymous SNV NM_032459 exon5 c.C1050T p.C350C 0.0816693 0.1012 0.049516 0.0584 0.0701 Uncertain 14_23826822_C->T 14 23826822 23826822 C T snp 2197.77 1/1 99 81 0 81 1.0 exonic rs2231809 EFS AU synonymous SNV NM_032459 exon5 c.G1020A p.L340L 0.455272 0.3036 0.464549 0.3378 0.3040 Uncertain 14_23830042_T->C 14 23830042 23830042 T C snp 1308.77 1/1 96 45 0 45 1.0 exonic rs2231798 EFS AU nonsynonymous SNV NM_005864 exon2 c.A19G p.T7A 0.455671 0.3046 0.457877 0.3372 0.3021 0.64 T 1.0 P -1.008 T 0.0 T 0.0 T Pathogenic 14_23830048_T->G 14 23830048 23830048 T G snp 1099.77 1/1 81 39 0 39 1.0 splicing rs2231797 EFS AU NM_005864 exon5 c.3608+6T>G 0.455671 0.3046 0.448587 0.3381 0.3026 Pathogenic 14_23842017_C->T 14 23842017 23842017 C T snp 482.77 0/1 99 63 43 20 0.32 upstream rs7145531 IL25 AU 0.375 0.2728 Uncertain 14_23842040_C->T 14 23842040 23842040 C T snp 807.77 0/1 99 95 60 35 0.37 UTR5 rs7145551 IL25 AU 0.430112 0.2728 Uncertain 14_23844979_C->A 14 23844979 23844979 C A snp 3020.77 0/1 99 250 128 122 0.49 exonic rs1124053 IL25 AU synonymous SNV NM_022789 exon2 c.C424A p.R142R 0.266973 0.2639 0.264493 0.2143 0.2571 Uncertain 14_23845244_G->A 14 23845244 23845244 G A snp 129.77 0/1 99 13 8 5 0.38 UTR3 rs3811178 IL25 AU 0.405551 0.2688 Uncertain 14_23848233_C->T 14 23848233 23848233 C T snp 2036.77 0/1 99 150 66 84 0.56 intronic CMTM5 AU NM_001288746 exon4 c.1779-6C>T Uncertain 14_23856896_A->G 14 23856896 23856896 A G snp 2164.77 0/1 99 173 77 96 0.55 intronic rs178642 MYH6 AU NM_002471 exon8 c.5614+34A>G 0.471645 0.6062 0.467784 0.4957 0.6265 Uncertain 14_23872666_T->C 14 23872666 23872666 T C snp 887.77 0/1 99 60 26 34 0.57 intronic rs434273 MYH6 AU NM_002471 exon30 c.21407+11T>C 0.784944 0.6617 0.828079 0.7565 0.6850 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000037540.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 14_23892646_ACACAC->- 14 23892646 23892651 ACACAC - indel 1403.73 ./1 99 22 0 22 1.0 intronic rs61677533 MYH7 AR,AD NM_000257 exon17 c.10693-109_10693-104delACACAC Uncertain 14_23892646_ACAC->- 14 23892646 23892649 ACAC - indel 1403.73 ./1 99 22 0 22 1.0 intronic rs72351640 MYH7 AR,AD NM_000257 exon17 c.10693-109_10693-106delACAC Uncertain 14_23902865_G->A 14 23902865 23902865 G A snp 1979.77 0/1 99 132 50 82 0.62 exonic rs186964570 MYH7 AR,AD nonsynonymous SNV NM_000257 exon3 c.C77T p.A26V 0.00159744 0.0079 0.000077 0.0006 0.0069 0.3 T 1.000 D -0.295 T 0.019 T 0.015 T CLINSIG=probable-non-pathogenic|probable-non-pathogenic|probable-pathogenic;CLNDBN=not_specified|Cardiomyopathy|Familial_hypertrophic_cardiomyopathy_1;CLNREVSTAT=criteria_provided\x2c_single_submitter|criteria_provided\x2c_single_submitter|no_assertion_criteria_provided;CLNACC=RCV000036003.2|RCV000158723.1|RCV000168831.1;CLNDSDB=MedGen|MedGen|GeneReviews:MedGen:OMIM;CLNDSDBID=CN169374|CN001491|NBK1768:C3495498:192600 ID=CM962617;DIS=Cardiomyopathy, hypertrophic;TAG=DM;PUB=8533830 DM Pathogenic 14_23924768_T->- 14 23924768 23924768 T - indel 420.73 1/1 39 13 0 13 1.0 intergenic rs398099230 MYH7 AR,AD 0.715655 0.6389 Uncertain 14_23924818_C->A 14 23924818 23924818 C A snp 905.77 1/1 66 32 0 32 1.0 intergenic rs8005802 MYH7 AR,AD 0.716054 0.6389 Uncertain 14_23924830_A->G 14 23924830 23924830 A G snp 879.77 1/1 66 34 2 32 0.94 intergenic rs10131038 MYH7 AR,AD 0.716254 0.6399 Uncertain 14_23938813_A->G 14 23938813 23938813 A G snp 2683.77 1/1 99 91 0 91 1.0 upstream rs8015781 NGDN AU 0.862021 0.872 Uncertain 14_23940081_A->G 14 23940081 23940081 A G snp 3160.77 1/1 99 101 0 101 1.0 intronic rs1028587 NGDN AU NM_015514 exon3 c.1190-33A>G 0.70028 0.6389 0.760803 0.7698 0.6488 Uncertain 14_23940086_A->G 14 23940086 23940086 A G snp 3157.77 1/1 99 100 0 100 1.0 intronic rs1028588 NGDN AU NM_015514 exon3 c.1190-28A>G 0.88758 0.746 0.8994 0.7506 Uncertain 14_23940090_C->- 14 23940090 23940090 C - indel 4540.73 1/1 99 101 0 101 1.0 intronic rs3215682 NGDN AU NM_015514 exon3 c.1190-24delC 0.70028 0.6389 0.7698 0.6486 Uncertain 14_23944505_G->A 14 23944505 23944505 G A snp 4470.77 1/1 99 156 0 156 1.0 exonic rs2236260 NGDN AU synonymous SNV NM_001042635 exon4 c.G270A p.V90V 0.60024 0.6379 0.642857 0.7086 0.6496 1.0 P -1.011 T Likely benign 14_23944514_C->A 14 23944514 23944514 C A snp 4194.77 1/1 99 152 0 152 1.0 exonic rs2236261 NGDN AU synonymous SNV NM_001042635 exon4 c.C279A p.R93R 0.678315 0.6409 0.739659 0.7646 0.6504 1.0 P -1.043 T Likely benign 14_23945366_A->G 14 23945366 23945366 A G snp 4475.77 1/1 99 164 0 164 1.0 splicing rs2295706 NGDN AU NM_015514 exon7 c.6437+5A>G 0.700679 0.6389 0.761110 0.7710 0.6520 Pathogenic 14_23947374_G->A 14 23947374 23947374 G A snp 634.77 1/1 48 16 0 16 1.0 UTR3 rs1956950 NGDN AU 0.828874 0.746 Uncertain 14_23991105_G->A 14 23991105 23991105 G A snp 1263.77 1/1 90 43 0 43 1.0 UTR3 rs223122 ZFHX2 AU 0.738219 0.7351 Uncertain 14_23999306_G->A 14 23999306 23999306 G A snp 562.77 0/1 99 51 26 25 0.49 intronic rs3742488 ZFHX2 AU NM_033400 exon6 c.8158-22G>A 0.349441 0.374 0.4812 0.3689 Uncertain 14_24000992_T->A 14 24000992 24000992 T A snp 302.77 0/1 99 37 24 13 0.35 intronic ZFHX2 AU NM_033400 exon7 c.9760+62T>A Uncertain 14_24107922_G->C 14 24107922 24107922 G C snp 366.77 0/1 99 26 13 13 0.5 intronic rs3818304 DHRS2 AU 0.176717 0.3452 Uncertain 14_24428995_C->T 14 24428995 24428995 C T snp 74.77 0/1 99 18 13 5 0.28 intronic rs28373485 DHRS4 AU NM_001282987 exon3 c.6113-115C>T Uncertain 14_24429093_A->C 14 24429093 24429093 A C snp 957.77 0/1 99 119 67 52 0.44 intronic rs11158474 DHRS4 AU NM_001282987 exon3 c.6113-17A>C 0.488019 0.6468 0.301323 0.4559 0.6562 Uncertain 14_24429249_G->A 14 24429249 24429249 G A snp 636.77 0/1 99 61 33 28 0.46 intronic rs3742491 DHRS4 AU NM_001282987 exon3 c.6215+37G>A 0.228235 0.4514 0.095991 0.1626 0.4827 Uncertain 14_24429298_C->G 14 24429298 24429298 C G snp 321.77 0/1 99 21 11 10 0.48 intronic rs3742492 DHRS4 AU NM_001282987 exon3 c.6215+86C>G 0.321885 0.5645 Uncertain 14_24429334_G->A 14 24429334 24429334 G A snp 117.77 0/1 99 10 5 5 0.5 intronic rs3742493 DHRS4 AU NM_001282987 exon3 c.6215+122G>A 0.313099 0.5456 Uncertain 14_24435308_C->A 14 24435308 24435308 C A snp 262.77 0/1 99 15 6 9 0.6 intronic rs138982419 DHRS4 AU NM_001282990 exon4 c.12195+116C>A 0.276558 0.2421 Uncertain 14_24436382_A->- 14 24436382 24436382 A - indel 290.73 0/1 99 44 27 17 0.39 intronic rs33966071 DHRS4 AU NM_001282990 exon5 c.13422-37delA 0.319888 0.4286 0.3704 0.4586 Uncertain 14_24438189_C->A 14 24438189 24438189 C A snp 203.84 1/1 18 6 0 6 1.0 UTR3 rs4706 DHRS4 AU 0.599042 0.7788 Uncertain 14_24439065_C->T 14 24439065 24439065 C T snp 43.77 0/1 72 5 3 2 0.4 upstream;downstream rs369340165 DHRS4L2;DHRS4 UN 0.275 . Uncertain 14_24439132_G->A 14 24439132 24439132 G A snp 109.77 0/1 99 17 12 5 0.29 UTR5 rs373068733 DHRS4L2 AU 0.2504 0.3226 Uncertain 14_24439209_C->T 14 24439209 24439209 C T snp 278.77 0/1 99 42 25 17 0.4 UTR5 rs141737044 DHRS4L2 AU 0.1246 0.2313 Uncertain 14_24439304_G->C 14 24439304 24439304 G C snp 162.77 0/1 99 104 76 28 0.27 UTR5 rs146253694 DHRS4L2 AU 0.1375 0.3571 Uncertain 14_24439588_G->A 14 24439588 24439588 G A snp 82.77 0/1 99 7 3 4 0.57 intronic rs4048584 DHRS4L2 AU 0.46885 0.6429 0.3352 0.6667 Uncertain 14_24458162_G->C 14 24458162 24458162 G C snp 3614.77 1/1 99 132 0 132 1.0 exonic rs2273946 DHRS4L2 AU nonsynonymous SNV NM_198083 exon1 c.G6C p.Q2H 0.673922 0.8571 0.515923 0.4516 0.8670 0.52 T 0.000 P -1.007 T Pathogenic 14_24458211_A->T 14 24458211 24458211 A T snp 950.77 0/1 99 94 50 44 0.47 exonic rs2273947 DHRS4L2 AU nonsynonymous SNV NM_198083 exon1 c.A55T p.M19L 0.188299 0.2897 0.128154 0.1605 0.3356 0.19 T 1.000 P -1.092 T 0.002 T 0.003 T Pathogenic 14_24464125_T->C 14 24464125 24464125 T C snp 250.8 1/1 21 16 2 14 0.88 intronic rs4982834 DHRS4L2 AU NM_198083 exon3 c.6084-115T>C 0.566893 0.7768 Uncertain 14_24473478_-->A 14 24473478 24473478 - A indel 67.75 0/1 24 15 5 10 0.67 intronic DHRS4L2 AU NM_198083 exon7 c.15389-67insA Uncertain 14_24476433_C->G 14 24476433 24476433 C G snp 362.77 0/1 99 91 64 27 0.3 UTR5 rs148889809 DHRS4L1 AU Uncertain 14_24505614_A->G 14 24505614 24505614 A G snp 1473.77 0/1 99 115 56 59 0.51 intronic rs8006288 DHRS4L1 AU 0.33107 0.3641 Uncertain 14_24505722_C->G 14 24505722 24505722 C G snp 2409.77 0/1 99 206 100 106 0.51 intronic rs8005834 DHRS4L1 AU 0.462859 0.5863 0.337613 0.3190 0.6202 0.2 T -0.981 T 0.0 T 0.001 T Uncertain 14_24507003_A->C 14 24507003 24507003 A C snp 1436.77 0/1 99 139 75 64 0.46 UTR5 rs28599797 DHRS4L1 AU 0.321086 0.3641 0.249423 0.1824 0.3833 Uncertain 14_24525634_C->A 14 24525634 24525634 C A snp 4616.77 1/1 99 173 1 172 0.99 intronic rs4982851 LRRC16B AU NM_138360 exon11 c.4240+32C>A 0.877196 0.997 0.827976 0.8910 0.9985 Uncertain 14_24525782_A->G 14 24525782 24525782 A G snp 4049.77 1/1 99 135 0 135 1.0 intronic rs4982852 LRRC16B AU NM_138360 exon12 c.4468-48A>G 0.942093 0.996 0.888205 0.9072 0.9986 Uncertain 14_24526287_G->C 14 24526287 24526287 G C snp 4465.77 1/1 99 153 0 153 1.0 intronic rs7161473 LRRC16B AU NM_138360 exon13 c.4871+54G>C 0.838059 0.9018 Uncertain 14_24527220_C->T 14 24527220 24527220 C T snp 5796.77 1/1 99 214 0 214 1.0 exonic rs4982853 LRRC16B AU synonymous SNV NM_138360 exon16 c.C1269T p.Y423Y 0.199281 0.4306 0.070583 0.1367 0.4490 Uncertain 14_24529209_C->T 14 24529209 24529209 C T snp 3440.77 1/1 99 110 1 109 0.99 exonic rs61564890 LRRC16B AU synonymous SNV NM_138360 exon23 c.C1899T p.P633P 0.191494 0.4643 0.051745 0.1317 0.4785 Uncertain 14_24529260_C->T 14 24529260 24529260 C T snp 5147.77 1/1 99 164 0 164 1.0 exonic rs58283036 LRRC16B AU synonymous SNV NM_138360 exon23 c.C1950T p.D650D 0.318291 0.5556 0.172074 0.1905 0.5547 Uncertain 14_24529890_A->G 14 24529890 24529890 A G snp 2801.77 1/1 99 100 0 100 1.0 exonic rs1951635 LRRC16B AU synonymous SNV NM_138360 exon25 c.A2115G p.L705L 0.963259 0.997 0.910810 0.9141 0.9987 Uncertain 14_24531641_G->C 14 24531641 24531641 G C snp 2977.77 1/1 99 95 0 95 1.0 intronic rs960266 LRRC16B AU NM_138360 exon28 c.10326-47G>C 0.27496 0.5218 0.131939 0.1861 0.5330 Uncertain 14_24534341_T->C 14 24534341 24534341 T C snp 39.77 0/1 68 12 8 4 0.33 exonic rs8004128 LRRC16B AU synonymous SNV NM_138360 exon33 c.T3255C p.P1085P 0.0304 0.0266 Uncertain 14_24534762_C->G 14 24534762 24534762 C G snp 457.77 0/1 99 33 15 18 0.55 intronic rs10150428 LRRC16B AU NM_138360 exon34 c.13468-68C>G 0.197085 0.4058 Uncertain 14_24534781_G->A 14 24534781 24534781 G A snp 362.77 0/1 99 41 21 20 0.49 intronic rs12590548 LRRC16B AU NM_138360 exon34 c.13468-49G>A 0.332268 0.4732 0.266815 0.3109 0.4835 Uncertain 14_24537701_T->C 14 24537701 24537701 T C snp 191.77 0/1 99 16 9 7 0.44 intronic rs8021991 LRRC16B AU NM_138360 exon37 c.16430-91T>C 0.190695 0.4206 Uncertain 14_24538205_A->G 14 24538205 24538205 A G snp 422.77 0/1 99 30 13 17 0.57 intronic rs2070344 LRRC16B AU NM_138360 exon38 c.16813+30A>G 0.223642 0.4187 0.096461 0.1627 0.4689 Uncertain 14_24542458_T->A 14 24542458 24542458 T A snp 159.77 0/1 66 9 3 6 0.67 intronic rs3742497 CPNE6 AU NM_006032 exon2 c.168+145T>A 0.784345 0.6468 Uncertain 14_24543873_G->A 14 24543873 24543873 G A snp 4879.77 1/1 99 183 1 182 0.99 intronic rs2025256 CPNE6 AU NM_006032 exon7 c.1769-41G>A 0.79393 0.9623 0.711364 0.8164 0.9485 Uncertain 14_24544248_C->T 14 24544248 24544248 C T snp 989.77 1/1 75 26 0 26 1.0 intronic rs2073350 CPNE6 AU NM_006032 exon8 c.2235-132C>T 0.493411 0.4097 Uncertain 14_24545366_T->C 14 24545366 24545366 T C snp 628.77 0/1 99 50 25 25 0.5 exonic rs2070342 CPNE6 AU synonymous SNV NM_006032 exon11 c.T933C p.I311I 0.497604 0.4861 0.418268 0.4186 0.4743 Uncertain 14_24545375_C->T 14 24545375 24545375 C T snp 744.77 0/1 99 63 32 31 0.49 exonic rs2070341 CPNE6 AU synonymous SNV NM_006032 exon11 c.C942T p.T314T 0.39377 0.5337 0.465631 0.5290 0.5391 Uncertain 14_24545835_C->T 14 24545835 24545835 C T snp 2733.77 0/1 99 202 85 117 0.58 intronic rs45621931 CPNE6 AU NM_006032 exon13 c.3621+69C>T 0.369409 0.2698 0.336618 0.3349 0.2676 Uncertain 14_24545984_G->C 14 24545984 24545984 G C snp 1109.77 0/1 99 76 36 40 0.53 intronic rs2070345 CPNE6 AU NM_006032 exon14 c.3942-103G>C 0.391573 0.4048 Uncertain 14_24563339_A->G 14 24563339 24563339 A G snp 1390.77 1/1 99 47 0 47 1.0 upstream rs4982857 PCK2 AR 0.987819 1 0.9490 . Uncertain 14_24567304_C->A 14 24567304 24567304 C A snp 1272.77 1/1 93 34 1 33 0.97 intronic rs2759409 PCK2 AR NM_004563 exon3 c.3797-107C>A 0.576078 0.7202 Uncertain 14_24567498_A->C 14 24567498 24567498 A C snp 7371.77 1/1 99 250 0 250 1.0 exonic rs3021119 PCK2 AR nonsynonymous SNV NM_004563 exon3 c.A362C p.Q121P 1 1 1 1 1 T 1.0 P -0.960 T 0.0 T 0.0 T Pathogenic 14_24567508_T->C 14 24567508 24567508 T C snp 7212.77 1/1 99 246 0 246 1.0 exonic rs2229661 PCK2 AR synonymous SNV NM_004563 exon3 c.T372C p.P124P 0.0704872 0.2044 0.023681 0.0292 0.1898 Uncertain 14_24569418_A->G 14 24569418 24569418 A G snp 3269.77 1/1 99 120 0 120 1.0 exonic rs2301336 PCK2 AR synonymous SNV NM_004563 exon7 c.A1230G p.K410K 0.0710863 0.2163 0.020452 0.0297 0.2048 Uncertain 14_24572495_G->C 14 24572495 24572495 G C snp 1046.77 0/1 99 81 38 43 0.53 intronic rs2071586 PCK2 AR NM_004563 exon9 c.8850+31G>C 0.491014 0.6349 0.357143 0.3467 0.6367 Uncertain 14_24586833_C->T 14 24586833 24586833 C T snp 1053.77 0/1 99 102 58 44 0.43 intronic rs3742499 DCAF11 AU NM_181357 exon5 c.2073-43C>T 0.128794 0.2044 0.093803 0.0770 0.1929 Uncertain 14_24587238_C->T 14 24587238 24587238 C T snp 851.77 0/1 99 75 40 35 0.47 intronic rs183350518 DCAF11 AU NM_181357 exon6 c.2460-25C>T 0.000199681 0.001 0.0001 0.0015 Uncertain 14_24587504_A->G 14 24587504 24587504 A G snp 1933.77 0/1 99 152 76 76 0.5 intronic rs2277479 DCAF11 AU NM_181357 exon7 c.2793-92A>G 0.0828674 0.2034 Uncertain 14_24587545_A->G 14 24587545 24587545 A G snp 2692.77 0/1 99 249 130 119 0.48 intronic rs2277481 DCAF11 AU NM_181357 exon7 c.2793-51A>G 0.585264 0.6369 0.430764 Uncertain 14_24587862_C->A 14 24587862 24587862 C A snp 843.77 0/1 99 55 24 31 0.56 intronic DCAF11 AU NM_181357 exon8 c.3155-96C>A Uncertain 14_24600390_T->A 14 24600390 24600390 T A snp 731.77 0/1 99 51 25 26 0.51 upstream rs927494 FITM1 AU 0.471845 0.6379 Uncertain 14_24601318_G->C 14 24601318 24601318 G C snp 189.8 0/1 21 7 1 6 0.86 intronic rs11574503 FITM1 AU NM_203402 exon2 c.647-101G>C 0.584665 0.6379 Uncertain 14_24614361_T->G 14 24614361 24614361 T G snp 4774.77 1/1 99 180 0 180 1.0 exonic rs7146672 PSME2 AU nonsynonymous SNV NM_002818 exon6 c.A266C p.H89P 0.996006 1 0.992234 0.9929 1 1 T 0.001 P -0.989 T 0.0 T 0.0 T Pathogenic 14_24615435_T->C 14 24615435 24615435 T C snp 871.77 0/1 99 85 46 39 0.46 exonic rs4575 PSME2 AU synonymous SNV NM_002818 exon2 c.A63G p.R21R 0.567891 0.6369 0.419191 0.4032 0.6338 Uncertain 14_24617238_C->T 14 24617238 24617238 C T snp 2866.77 0/1 99 250 134 116 0.46 exonic rs2273913 RNF31 AU synonymous SNV NM_017999 exon2 c.C246T p.Y82Y 0.34345 0.5546 0.224519 0.2483 0.5498 Uncertain 14_24618859_A->G 14 24618859 24618859 A G snp 1269.77 0/1 99 100 48 52 0.52 intronic rs743272 RNF31 AU NM_017999 exon6 c.1885+67A>G 0.126398 0.3482 Uncertain 14_24624741_C->G 14 24624741 24624741 C G snp 4565.77 1/1 99 155 0 155 1.0 intronic rs2295979 RNF31 AU NM_017999 exon13 c.7814+20C>G 0.652955 0.8462 0.530052 0.5542 0.8546 Uncertain 14_24625031_C->G 14 24625031 24625031 C G snp 305.78 1/1 24 9 0 9 1.0 intronic rs4982862 RNF31 AU NM_017999 exon14 c.7994+130C>G 0.727636 0.8452 Uncertain 14_24629032_T->C 14 24629032 24629032 T C snp 1725.77 0/1 99 164 87 77 0.47 intronic rs150841905 RNF31 AU NM_017999 exon19 c.12165-40T>C 0.000399361 0.002 0.0003 0.0038 Uncertain 14_24629744_G->A 14 24629744 24629744 G A snp 1001.77 0/1 99 79 45 34 0.43 exonic rs2277484 RNF31 AU nonsynonymous SNV NM_017999 exon21 c.G3181A p.V1061I 0.0329473 0.1429 0.002158 0.0184 0.1524 0.11 T 0.994 P -1.176 T 0.996 D 0.99 D Pathogenic 14_24641838_C->T 14 24641838 24641838 C T snp 928.77 0/1 99 105 64 41 0.39 intronic rs17101730 REC8 AU NM_001048205 exon1 c.56+21C>T 0.125998 0.3492 0.075491 0.1019 0.3677 Uncertain 14_24646406_-->GAA 14 24646406 24646406 - GAA indel 5450.73 1/1 99 101 0 101 1.0 exonic rs10690822 REC8 AU nonframeshift insertion NM_001048205 exon8 c.681_682insGAA p.E227delinsEE 0.983776 0.9863 0.9971 Uncertain 14_24647522_G->T 14 24647522 24647522 G T snp 2060.77 1/1 99 62 0 62 1.0 intronic rs3736840 REC8 AU NM_001048205 exon12 c.5667+94G>T 0.232628 0.1667 Uncertain 14_24647814_T->C 14 24647814 24647814 T C snp 1162.77 1/1 84 34 0 34 1.0 exonic rs1885711 REC8 AU synonymous SNV NM_001048205 exon13 c.T996C p.P332P 0.732628 0.87 0.593902 0.5875 0.8967 Uncertain 14_24647957_C->T 14 24647957 24647957 C T snp 5893.77 1/1 99 222 0 222 1.0 intronic rs1885710 REC8 AU NM_001048205 exon14 c.6221-25C>T 0.730631 0.8839 0.597604 0.5816 0.9077 Uncertain 14_24649835_T->C 14 24649835 24649835 T C snp 2360.77 1/1 99 91 0 91 1.0 intronic rs2273911 IPO4 AU NM_024658 exon1 c.131+57T>C 0.594249 0.748 0.483574 Uncertain 14_24650047_A->G 14 24650047 24650047 A G snp 568.77 1/1 42 18 0 18 1.0 intronic rs7145633 IPO4 AU NM_024658 exon2 c.317+83A>G 0.605831 0.5387 Uncertain 14_24652107_-->G 14 24652107 24652107 - G indel 5321.73 1/1 99 161 0 161 1.0 intronic rs34130297 IPO4 AU NM_024658 exon7 c.2401+59insG 0.732628 0.8839 0.595917 Uncertain 14_24653523_G->C 14 24653523 24653523 G C snp 1341.77 1/1 96 47 0 47 1.0 exonic rs11550452 IPO4 AU nonsynonymous SNV NM_024658 exon17 c.C1738G p.P580A 0.315495 0.4196 0.297098 0.3866 0.4674 0.16 T 1.000 P -0.969 T 0.999 D 0.973 D Pathogenic 14_24653954_G->A 14 24653954 24653954 G A snp 1731.77 1/1 99 58 0 58 1.0 exonic rs7146310 IPO4 AU nonsynonymous SNV NM_024658 exon16 c.C1538T p.A513V 0.317891 0.4206 0.264626 0.3170 0.4201 0.08 T 0.001 P -0.936 T 0.002 T 0.016 T Pathogenic 14_24654489_T->C 14 24654489 24654489 T C snp 2775.77 1/1 99 93 0 93 1.0 exonic rs2025258 IPO4 AU synonymous SNV NM_024658 exon14 c.A1308G p.V436V 0.461661 0.7897 0.351396 0.3910 0.8025 Uncertain 14_24656251_C->T 14 24656251 24656251 C T snp 6409.77 1/1 99 250 0 250 1.0 intronic rs2295978 IPO4 AU NM_024658 exon24 c.6643-39C>T 0.341054 0.4216 0.294391 0.3122 0.4162 Uncertain 14_24657226_C->T 14 24657226 24657226 C T snp 96.28 1/1 9 3 0 3 1.0 intronic rs2295977 IPO4 AU NM_024658 exon27 c.7774-195C>T 0.340855 0.4216 Uncertain 14_24657407_T->G 14 24657407 24657407 T G snp 2495.77 1/1 99 94 0 94 1.0 intronic rs6573607 IPO4 AU NM_024658 exon27 c.7774-14T>G 0.733027 0.8849 0.592121 0.5962 0.9069 Uncertain 14_24659409_CT->- 14 24659409 24659410 CT - indel 875.73 1/1 57 19 0 19 1.0 UTR3 rs3052603 TM9SF1 AU 0.494209 0.5327 Uncertain 14_24662587_T->C 14 24662587 24662587 T C snp 164.77 0/1 66 9 3 6 0.67 intronic rs117923508 TM9SF1 AU NM_006405 exon4 c.3855+112T>C 0.00898562 0.0427 Uncertain 14_24680607_C->- 14 24680607 24680607 C - indel 762.73 0/1 99 39 14 25 0.64 intronic rs398024581 CHMP4A AU NM_014169 exon4 c.1538-13delC 0.113419 0.0883 0.122684 0.1558 0.1245 Uncertain 14_24686481_TTG->- 14 24686481 24686483 TTG - indel 528.73 0/1 99 31 5 26 0.84 intronic rs149980708 NEDD8 AU NM_006156 exon1 c.97+52_97+54delTTG 0.2222 0.1412 Uncertain 14_24702987_A->G 14 24702987 24702987 A G snp 1799.77 0/1 99 155 80 75 0.48 intronic rs11158615 GMPR2 AU NM_016576 exon2 c.399+183A>G 0.441494 0.377 0.5931 0.4826 Uncertain 14_24718357_G->T 14 24718357 24718357 G T snp 134.77 0/1 99 14 9 5 0.36 UTR3 rs8193035 TGM1 AR 0.00379393 0.0188 Uncertain 14_24718380_CTCCGGGAGCCCTGGACTCCCC->- 14 24718380 24718401 CTCCGGGAGCCCTGGACTCCCC - indel 4098.73 1/1 93 31 0 31 1.0 UTR3 rs41294726 TGM1 AR 0.991414 0.9931 Uncertain 14_24718515_G->A 14 24718515 24718515 G A snp 1665.77 0/1 99 152 81 71 0.47 UTR3 rs2229463 TGM1 AR 0.716254 0.5933 0.805090 0.7913 0.5814 Uncertain 14_24736027_G->A 14 24736027 24736027 G A snp 1564.77 0/1 99 116 47 69 0.59 exonic rs14193 RABGGTA AU synonymous SNV NM_182836 exon15 c.C1422T p.R474R 0.585863 0.6151 0.459310 0.4541 0.6034 Uncertain 14_24736157_G->A 14 24736157 24736157 G A snp 110.77 0/1 99 11 7 4 0.36 intronic rs941503 RABGGTA AU NM_182836 exon3 c.1275+62G>A 0.60004 0.6181 Uncertain 14_24736961_T->C 14 24736961 24736961 T C snp 1056.77 0/1 99 65 26 39 0.6 exonic rs729421 RABGGTA AU nonsynonymous SNV NM_182836 exon14 c.A1258G p.T420A 0.602436 0.6181 0.480739 0.4669 0.6035 1 T 0.0 P -0.948 T 0.0 T 0.0 T Pathogenic 14_24737203_A->T 14 24737203 24737203 A T snp 1000.77 0/1 99 73 31 42 0.58 intronic rs941502 RABGGTA AU NM_182836 exon5 c.2344+39A>T 0.602236 0.6181 0.469277 0.4705 0.6077 Uncertain 14_24739043_G->A 14 24739043 24739043 G A snp 243.77 0/1 99 19 11 8 0.42 intronic rs2295314 RABGGTA AU NM_182836 exon13 c.4338-115G>A 0.201877 0.1706 Uncertain 14_24739055_T->G 14 24739055 24739055 T G snp 470.77 0/1 99 30 16 14 0.47 intronic rs2295313 RABGGTA AU NM_182836 exon13 c.4338-103T>G 0.327676 0.3016 Uncertain 14_24760009_G->A 14 24760009 24760009 G A snp 340.77 0/1 99 28 12 16 0.57 UTR3 rs4568 DHRS1 AU 0.440895 0.7143 Uncertain 14_24760255_C->T 14 24760255 24760255 C T snp 1492.77 0/1 99 118 57 61 0.52 intronic rs2295310 DHRS1 AU NM_001136050 exon1 c.137+54C>T 0.441294 0.7143 Uncertain 14_24760764_G->A 14 24760764 24760764 G A snp 689.77 0/1 99 67 34 33 0.49 exonic rs10134537 DHRS1 AU nonsynonymous SNV NM_001136050 exon7 c.C722T p.T241I 0.0936502 0.0893 0.088190 0.0759 0.0805 0.1 T 0.997 P -0.621 T 0.338 T 0.157 T Pathogenic 14_24761467_G->T 14 24761467 24761467 G T snp 1136.77 0/1 99 141 89 52 0.37 exonic rs76421634 DHRS1 AU nonsynonymous SNV NM_001136050 exon6 c.C577A p.P193T 0.00938498 0.0437 0.000308 0.0029 0.0362 0 D 1 D 0.431 D 1.0 D 0.998 D Pathogenic 14_24771137_G->A 14 24771137 24771137 G A snp 522.77 0/1 99 52 31 21 0.4 intronic rs4247000 NOP9 AU NM_174913 exon4 c.2010-33G>A 0.91873 0.8552 0.948947 0.9472 0.8565 Uncertain 14_24771256_T->C 14 24771256 24771256 T C snp 1252.77 0/1 99 118 67 51 0.43 exonic rs4247001 NOP9 AU synonymous SNV NM_001286367 exon4 c.T894C p.H298H 0.910543 0.8552 0.942642 0.9454 0.8565 Uncertain 14_24772829_A->T 14 24772829 24772829 A T snp 513.77 0/1 99 58 37 21 0.36 intronic rs4981501 NOP9 AU NM_174913 exon7 c.3777-108A>T 0.439896 0.7173 Uncertain 14_24772922_C->T 14 24772922 24772922 C T snp 1669.77 0/1 99 199 124 75 0.38 intronic rs4982895 NOP9 AU NM_174913 exon7 c.3777-15C>T 0.919928 0.8552 0.950331 0.9478 0.8566 Uncertain 14_24775846_C->T 14 24775846 24775846 C T snp 31.77 0/1 60 6 4 2 0.33 UTR3 rs2281472 NOP9 AU 0.75639 0.8482 Uncertain 14_24780007_C->T 14 24780007 24780007 C T snp 1628.77 0/1 99 132 65 67 0.51 exonic rs77369205 LTB4R2 AU nonsynonymous SNV NM_001164692 exon2 c.C137T p.A46V 0.00419329 0.0208 0.0021 0.0246 1 T 0.786 N -1.010 T 0.068 T 0.033 T Pathogenic 14_24784911_T->C 14 24784911 24784911 T C snp 3313.77 0/1 99 250 130 120 0.48 exonic rs3742511 LTB4R AU synonymous SNV NM_001143919 exon2 c.T54C p.S18S 0.0716853 0.1409 0.041366 0.0486 0.1391 Uncertain 14_24787588_T->C 14 24787588 24787588 T C snp 1623.77 0/1 99 99 36 63 0.64 UTR3 rs3181385 ADCY4 AU 0.0557109 0.0962 0.047747 0.0650 0.0892 Uncertain 14_24788220_G->A 14 24788220 24788220 G A snp 1278.77 0/1 99 92 46 46 0.5 intronic rs2295303 ADCY4 AU NM_139247 exon3 c.682-83G>A 0.0706869 0.1399 Uncertain 14_24791136_A->G 14 24791136 24791136 A G snp 789.77 1/1 57 26 0 26 1.0 intronic rs4981504 ADCY4 AU NM_139247 exon6 c.3650-135A>G 0.852636 0.996 Uncertain 14_24793600_G->A 14 24793600 24793600 G A snp 4264.77 1/1 99 148 0 148 1.0 splicing rs1884366 ADCY4 AU NM_139247 exon11 c.5976+3G>A 0.933906 1 0.923112 0.9799 1 Pathogenic 14_24793647_T->C 14 24793647 24793647 T C snp 1269.77 0/1 99 83 37 46 0.55 intronic rs6573722 ADCY4 AU NM_139247 exon11 c.5976+50T>C 0.538938 0.6468 0.427726 0.4668 0.6568 Uncertain 14_24795115_G->T 14 24795115 24795115 G T snp 1030.77 0/1 99 61 22 39 0.64 intronic rs11622527 ADCY4 AU NM_139247 exon13 c.7472+22G>T 0.280152 0.1786 0.434174 0.4522 0.1983 Uncertain 14_24795232_CA->- 14 24795232 24795233 CA - indel 3289.73 0/1 99 158 81 77 0.49 intronic rs3841475 ADCY4 AU NM_139247 exon14 c.7663-52_7663-51delCA 0.627995 0.4633 0.762342 Uncertain 14_24795237_T->C 14 24795237 24795237 T C snp 4507.77 1/1 99 163 0 163 1.0 intronic rs55970272 ADCY4 AU NM_139247 exon14 c.7663-47T>C 0.927117 1 0.912348 0.9783 0.9996 Uncertain 14_24795258_C->T 14 24795258 24795258 C T snp 2292.77 0/1 99 198 106 92 0.46 intronic rs11622863 ADCY4 AU NM_139247 exon14 c.7663-26C>T 0.619808 0.4187 0.767953 0.7783 0.4177 Uncertain 14_24795495_G->A 14 24795495 24795495 G A snp 1418.77 0/1 99 152 89 63 0.41 intronic rs17256902 ADCY4 AU NM_139247 exon15 c.7883-9G>A 0.301518 0.5764 0.149393 0.2078 0.5864 Uncertain 14_24798245_C->T 14 24798245 24798245 C T snp 571.77 1/1 45 20 0 20 1.0 intronic rs17102976 ADCY4 AU NM_139247 exon16 c.10645-21C>T 0.172524 0.1468 0.164539 0.1223 0.1607 Uncertain 14_24799358_C->A 14 24799358 24799358 C A snp 2247.77 1/1 99 74 0 74 1.0 intronic rs10483285 ADCY4 AU NM_139247 exon19 c.11752-15C>A 0.0694888 0.1349 0.057051 0.0661 0.1405 Uncertain 14_24800879_G->A 14 24800879 24800879 G A snp 1222.77 1/1 87 44 1 43 0.98 intronic rs3181256 ADCY4 AU NM_139247 exon22 c.13372-114G>A 0.460863 0.2798 Uncertain 14_24801635_A->C 14 24801635 24801635 A C snp 129.03 1/1 12 4 0 4 1.0 intronic rs1950502 ADCY4 AU NM_139247 exon23 c.14106-92A>C 0.937101 1 0.9695 1 Uncertain 14_24802263_A->G 14 24802263 24802263 A G snp 1039.77 1/1 75 35 0 35 1.0 intronic rs8003158 ADCY4 AU NM_139247 exon24 c.14573+69A>G 0.990415 1 Uncertain 14_24805463_G->T 14 24805463 24805463 G T snp 3920.77 1/1 99 146 0 146 1.0 exonic rs3212254 RIPK3 AU nonsynonymous SNV NM_006871 exon10 c.C1475A p.P492Q 0.120208 0.1339 0.105490 0.0769 0.1392 0.07 T 0.0 P -1.056 T 0.999 D 0.931 D Pathogenic 14_24835018_G->- 14 24835018 24835018 G - indel 594.73 0/1 99 40 15 25 0.63 intergenic rs11362560 RIPK3 AU 0.828674 0.8611 Uncertain 14_24838621_C->T 14 24838621 24838621 C T snp 2428.77 0/1 99 249 150 99 0.4 intronic rs1955915 NFATC4 AU NM_001288802 exon1 c.64+39C>T 0.5627 0.7163 0.4458 0.7041 Uncertain 14_24839165_C->T 14 24839165 24839165 C T snp 2392.77 0/1 99 185 87 98 0.53 exonic rs2228233 NFATC4 AU synonymous SNV NM_004554 exon2 c.C561T p.D187D 0.40016 0.4692 0.295631 0.3402 0.4654 Uncertain 14_24844669_T->C 14 24844669 24844669 T C snp 182.77 0/1 99 21 12 9 0.43 intronic rs55851358 NFATC4 AU NM_001198965 exon7 c.7319-196T>C 0.0900559 0.0298 Uncertain 14_24846757_A->G 14 24846757 24846757 A G snp 1643.77 0/1 99 173 105 68 0.39 intronic rs2243891 NFATC4 AU NM_001198965 exon10 c.9297-86A>G 0.848642 0.8611 Uncertain 14_24879519_G->A 14 24879519 24879519 G A snp 104.77 0/1 99 12 8 4 0.33 intronic rs62000679 NYNRIN AU NM_025081 exon4 c.10962+105G>A 0.120008 0.0437 Uncertain 14_24882312_G->C 14 24882312 24882312 G C snp 661.77 0/1 99 64 31 33 0.52 intronic rs2273634 NYNRIN AU NM_025081 exon7 c.13852+8G>C 0.22484 0.2302 0.193119 0.2686 0.3192 Uncertain 14_24882373_G->A 14 24882373 24882373 G A snp 359.77 0/1 99 33 19 14 0.42 intronic rs3818251 NYNRIN AU NM_025081 exon7 c.13852+69G>A 0.755391 0.7054 Uncertain 14_24882440_G->C 14 24882440 24882440 G C snp 1626.77 1/1 99 45 0 45 1.0 intronic rs4982909 NYNRIN AU NM_025081 exon8 c.14069-81G>C 0.896366 0.749 Uncertain 14_24882802_A->G 14 24882802 24882802 A G snp 334.77 0/1 99 17 7 10 0.59 intronic rs11626443 NYNRIN AU NM_025081 exon8 c.14171+179A>G 0.120407 0.0446 Uncertain 14_24882805_T->C 14 24882805 24882805 T C snp 600.77 1/1 45 15 0 15 1.0 intronic rs10146609 NYNRIN AU NM_025081 exon8 c.14171+182T>C 0.894369 0.749 Uncertain 14_24883918_A->G 14 24883918 24883918 A G snp 889.77 0/1 99 64 28 36 0.56 exonic rs146414871 NYNRIN AU nonsynonymous SNV NM_025081 exon9 c.A2963G p.N988S 0.00179712 0.0079 0.0011 0.0143 0.01 T 1 N -0.978 T 0.0 T 0.0 T Pathogenic 14_24887239_C->G 14 24887239 24887239 C G snp 56.74 1/1 6 2 0 2 1.0 UTR3 rs11627882 NYNRIN AU 0.918131 0.7808 Uncertain 14_24887462_T->C 14 24887462 24887462 T C snp 1382.77 1/1 99 51 1 50 0.98 UTR3 rs3814811 NYNRIN AU 0.91853 0.7837 0.9608 0.825 Uncertain 14_24896990_G->A 14 24896990 24896990 G A snp 1255.77 0/1 99 161 102 59 0.37 UTR3 CBLN3 AU Uncertain 14_24897948_G->T 14 24897948 24897948 G T snp 710.77 0/1 99 71 34 37 0.52 intronic rs73593269 CBLN3 AU NM_001039771 exon3 c.966-12G>T 0.127196 0.1974 0.075515 0.0656 0.2055 Uncertain 14_24898355_C->A 14 24898355 24898355 C A snp 37.77 0/1 62 4 2 2 0.5 UTR5 rs10143703 CBLN3 AU 0.6248 0.6806 Uncertain 14_24898556_G->C 14 24898556 24898556 G C snp 911.77 0/1 99 94 53 41 0.44 exonic rs2273633 KHNYN AU nonsynonymous SNV NM_001290256 exon1 c.G49C p.G17R 0.134585 0.2312 0.0762 0.2431 Pathogenic 14_24898558_C->T 14 24898558 24898558 C T snp 1265.77 0/1 99 94 41 53 0.56 exonic rs2273632 KHNYN AU synonymous SNV NM_001290256 exon1 c.C51T p.G17G 0.638778 0.6815 0.7024 0.6831 Uncertain 14_24898693_C->T 14 24898693 24898693 C T snp 1300.77 0/1 99 109 53 56 0.51 UTR5 rs2273631 CBLN3 AU 0.639776 0.6815 Uncertain 14_24898696_T->C 14 24898696 24898696 T C snp 1278.77 0/1 99 109 53 56 0.51 UTR5 rs2273630 CBLN3 AU 0.640375 0.6825 Uncertain 14_24898751_G->A 14 24898751 24898751 G A snp 667.77 0/1 99 51 28 23 0.45 intronic rs2273629 KHNYN AU NM_001290256 exon1 c.106+138G>A 0.684904 0.6796 Uncertain 14_24898780_C->G 14 24898780 24898780 C G snp 475.77 0/1 99 31 15 16 0.52 intronic rs5025771 KHNYN AU NM_001290256 exon1 c.106+167C>G 0.640176 0.6825 Uncertain 14_24900209_C->G 14 24900209 24900209 C G snp 340.77 0/1 99 27 13 14 0.52 intronic rs1956905 KHNYN AU NM_015299 exon2 c.201+72C>G 0.686302 0.6994 Uncertain 14_24901249_A->C 14 24901249 24901249 A C snp 945.77 0/1 99 92 53 39 0.42 exonic rs3742520 KHNYN AU nonsynonymous SNV NM_001290256 exon3 c.A905C p.K302T 0.405152 0.5208 0.402430 0.5036 0.5122 0.02 T 0.000 P -0.961 T 0.028 T 0.007 T Pathogenic 14_24901276_G->T 14 24901276 24901276 G T snp 2757.77 1/1 99 88 0 88 1.0 exonic rs7151995 KHNYN AU nonsynonymous SNV NM_001290256 exon3 c.G932T p.W311L 0.959465 0.9692 0.959019 0.9657 0.9689 1 T 0.000 P -0.986 T 0.0 T 0.0 T Pathogenic 14_24901844_A->G 14 24901844 24901844 A G snp 2974.77 0/1 99 230 113 117 0.51 intronic rs2255591 KHNYN AU NM_015299 exon3 c.1880+28A>G 0.654752 0.7183 0.655313 0.7125 0.7102 Uncertain 14_24905533_G->A 14 24905533 24905533 G A snp 2414.77 0/1 99 182 89 93 0.51 intronic rs2277488 KHNYN AU NM_015299 exon7 c.5657-60G>A 0.933506 0.9653 Uncertain 14_24905548_G->A 14 24905548 24905548 G A snp 2617.77 0/1 99 210 102 108 0.51 intronic rs2277489 KHNYN AU NM_015299 exon7 c.5657-45G>A 0.735423 0.8284 0.756728 0.8492 0.8136 Uncertain 14_24909281_C->T 14 24909281 24909281 C T snp 1445.77 0/1 99 119 57 62 0.52 UTR3 rs1043839 KHNYN AU 0.765176 0.8393 0.796440 0.8629 0.8196 Uncertain 14_24909362_T->C 14 24909362 24909362 T C snp 1891.77 0/1 99 152 77 75 0.49 exonic rs1043831 SDR39U1 AU nonsynonymous SNV NM_020195 exon6 c.A809G p.Q270R 0.765176 0.8393 0.795194 0.8634 0.8232 0.35 T 0.000 P -0.996 T 0.0 T 0.003 T Pathogenic 14_24909475_C->G 14 24909475 24909475 C G snp 1968.77 0/1 99 181 102 79 0.44 exonic rs3211056 SDR39U1 AU nonsynonymous SNV NM_020195 exon6 c.G696C p.L232F 0.765176 0.8393 0.795835 0.8623 0.8208 0.28 T 1.000 P -1.042 T 0.457 P 0.191 P Pathogenic 14_24909731_C->T 14 24909731 24909731 C T snp 2025.77 0/1 99 178 93 85 0.48 UTR3 rs2273628 KHNYN AU 0.764976 0.8383 0.806481 0.8750 0.8285 0.0 P -1.037 T 0.0 T 0.001 T Uncertain 14_24910210_C->A 14 24910210 24910210 C A snp 2130.77 0/1 99 161 80 81 0.5 UTR3 rs712487 KHNYN AU 0.764976 0.8383 0.8709 0.8314 Uncertain 14_24910317_-->TT 14 24910317 24910317 - TT indel 1547.73 0/1 99 66 31 35 0.53 UTR3 rs10668100 KHNYN AU Uncertain 14_24910846_C->T 14 24910846 24910846 C T snp 241.77 0/1 99 15 6 9 0.6 intronic rs11628143 SDR39U1 AU NM_020195 exon3 c.1591-33C>T 0.764976 0.8383 0.796389 0.8605 0.8183 Uncertain 14_24910876_G->A 14 24910876 24910876 G A snp 589.77 0/1 99 38 19 19 0.5 splicing rs11158703 SDR39U1 AU NM_020195 exon3 c.1591-3G>A 0.764976 0.8383 0.796896 0.8616 0.8195 Pathogenic 14_24910973_T->G 14 24910973 24910973 T G snp 1636.77 0/1 99 137 64 73 0.53 exonic rs11625819 SDR39U1 AU nonsynonymous SNV NM_020195 exon4 c.A235C p.I79L 0.765176 0.8383 0.786436 0.8596 0.8152 1 T 1.000 P -0.936 T 0.0 T 0.0 T Pathogenic 14_24910974_T->A 14 24910974 24910974 T A snp 1598.77 0/1 99 138 66 72 0.52 exonic rs11625820 SDR39U1 AU synonymous SNV NM_020195 exon4 c.A234T p.V78V 0.765176 0.8383 0.783911 0.8594 0.8151 Uncertain 14_24911116_C->T 14 24911116 24911116 C T snp 851.77 0/1 99 71 37 34 0.48 intronic rs11158704 SDR39U1 AU NM_020195 exon3 c.1713+115C>T 0.765176 0.8383 Uncertain 14_24911169_C->T 14 24911169 24911169 C T snp 518.77 0/1 99 48 27 21 0.44 intronic rs11158705 SDR39U1 AU NM_001290293 exon3 c.2015-134C>T 0.765176 0.8383 Uncertain 14_24911764_G->A 14 24911764 24911764 G A snp 500.77 0/1 99 25 9 16 0.64 intronic rs1956903 SDR39U1 AU NM_001290293 exon4 c.2371+105G>A 0.785942 0.8383 0.8806 0.8448 Uncertain 14_24911852_C->G 14 24911852 24911852 C G snp 1204.77 0/1 99 87 41 46 0.53 intronic rs12897925 SDR39U1 AU NM_020195 exon6 c.2671-107C>G 0.765176 0.8383 Uncertain 14_24970942_A->G 14 24970942 24970942 A G snp 2851.77 1/1 99 103 0 103 1.0 ncRNA_exonic rs4600392 LOC101927045 AU 0.926518 1 0.9972 1 Uncertain 14_24971008_C->T 14 24971008 24971008 C T snp 505.77 0/1 99 48 26 22 0.46 ncRNA_exonic rs4519248 LOC101927045 AU 0.28115 0.4147 Uncertain 14_24975435_G->T 14 24975435 24975435 G T snp 2597.77 1/1 99 90 0 90 1.0 exonic rs5249 CMA1 AU synonymous SNV NM_001836 exon4 c.C399A p.S133S 0.927117 1 0.930494 0.9801 1 Uncertain 14_24975509_T->C 14 24975509 24975509 T C snp 756.77 0/1 99 47 18 29 0.62 intronic rs1885108 CMA1 AU NM_001836 exon2 c.767+21T>C 0.623203 0.629 0.676611 0.7322 0.6474 Uncertain 14_24975814_T->C 14 24975814 24975814 T C snp 261.77 0/1 99 53 39 14 0.26 splicing rs5248 CMA1 AU NM_001836 exon3 c.1089+4T>C 0.11861 0.2222 0.089420 0.0882 0.2174 ID=CS068760;DIS=Altered splicing;TAG=FP;PUB=16400609 FP Pathogenic 14_25043068_T->G 14 25043068 25043068 T G snp 290.77 0/1 99 14 5 9 0.64 intronic rs1885597 CTSG AU NM_001911 exon1 c.174+52T>G 0.554113 0.5357 0.473829 0.5134 0.5196 Uncertain 14_25044712_C->T 14 25044712 25044712 C T snp 1223.77 0/1 99 98 50 48 0.49 intronic rs1957523 CTSG AU NM_001911 exon4 c.1776+94C>T 0.573283 0.5595 Uncertain 14_25045589_A->G 14 25045589 25045589 A G snp 257.8 1/1 21 8 0 8 1.0 upstream rs12878578 CTSG AU 0.875799 0.999 Uncertain 14_25075729_C->T 14 25075729 25075729 C T snp 220.77 0/1 99 22 11 11 0.5 UTR3 rs2236336 GZMH AU 0.0545128 0.0843 Uncertain 14_25078914_A->C 14 25078914 25078914 A C snp 388.77 1/1 30 12 0 12 1.0 UTR5 rs1957526 GZMH AU 0.90615 1 Uncertain 14_25100247_T->C 14 25100247 25100247 T C snp 1193.77 0/1 99 143 85 58 0.41 UTR3 rs2236337 GZMB AU 0.288538 0.2966 0.258419 0.2437 0.2712 Uncertain 14_25100282_A->G 14 25100282 25100282 A G snp 1147.77 0/1 99 149 94 55 0.37 exonic rs2236338 GZMB AU nonsynonymous SNV NM_004131 exon5 c.T739C p.Y247H 0.291933 0.2986 0.265339 0.2460 0.2723 0.17 T 0.0 P -1.111 T 0.001 T 0.003 T ID=CM033777;DIS=Apoptosis, unable to induce, association with;TAG=DP;PUB=12594335 DP Pathogenic 14_25100933_C->T 14 25100933 25100933 C T snp 342.77 0/1 99 18 7 11 0.61 intronic rs6573911 GZMB AU NM_004131 exon2 c.787-130C>T 0.300719 0.2857 Uncertain 14_25101548_G->A 14 25101548 25101548 G A snp 35.77 0/1 64 7 5 2 0.29 exonic rs1126639 GZMB AU synonymous SNV NM_004131 exon3 c.C321T p.N107N 0.302316 0.2867 0.2292 0.2289 Uncertain 14_25101589_G->C 14 25101589 25101589 G C snp 148.77 0/1 99 15 9 6 0.4 exonic rs11539752 GZMB AU nonsynonymous SNV NM_004131 exon3 c.C280G p.P94A 0.301917 0.2867 0.2438 0.2480 1 T 0.000 P -1.010 T 0.0 T 0.0 T ID=CM033776;DIS=Apoptosis, unable to induce, association with;TAG=DP;PUB=12594335 DP Pathogenic 14_25101629_T->C 14 25101629 25101629 T C snp 337.77 0/1 99 30 16 14 0.47 exonic rs10909625 GZMB AU synonymous SNV NM_004131 exon3 c.A240G p.K80K 0.302516 0.2867 0.2371 0.2481 Uncertain 14_25101878_-->T 14 25101878 25101878 - T indel 3276.73 0/1 99 211 117 94 0.45 intronic rs397942444 GZMB AU NM_004131 exon3 c.1389+213insT 0.301118 0.2867 0.2827 0.2921 Uncertain 14_25101897_C->T 14 25101897 25101897 C T snp 2077.77 0/1 99 217 121 96 0.44 intronic rs59268439 GZMB AU NM_004131 exon4 c.1844-223C>T 0.0914537 0.0933 0.0600 0.1038 Uncertain 14_25102160_C->T 14 25102160 25102160 C T snp 1463.77 0/1 99 130 64 66 0.51 exonic rs8192917 GZMB AU nonsynonymous SNV NM_004131 exon2 c.G164A p.R55Q 0.680711 0.7133 0.706520 0.7476 0.7373 0.32 T 0.0 P -0.938 T 0.344 T 0.027 T ID=CM033775;DIS=Apoptosis, unable to induce, association with;TAG=DFP;PUB=12594335 DFP Pathogenic 14_25103414_G->A 14 25103414 25103414 G A snp 1226.77 0/1 99 107 53 54 0.5 UTR5 rs2273844 GZMB AU 0.295927 0.2837 0.265410 0.3106 0.3095 0.003 P Uncertain 14_25281843_C->T 14 25281843 25281843 C T snp 420.77 0/1 99 44 26 18 0.41 UTR3 rs712491 STXBP6 AU 0.190096 0.3194 0.234122 Uncertain 14_25287095_T->C 14 25287095 25287095 T C snp 497.77 1/1 39 13 0 13 1.0 intronic rs854398 STXBP6 AU NM_001304476 exon2 c.6328-1147T>C 0.992412 1 Uncertain 14_25287224_C->T 14 25287224 25287224 C T snp 1106.77 0/1 99 120 68 52 0.43 intronic rs8007336 STXBP6 AU NM_001304476 exon2 c.6328-1018C>T 0.284145 0.38 Uncertain 14_25288227_T->C 14 25288227 25288227 T C snp 587.77 0/1 99 45 21 24 0.53 intronic rs749594 STXBP6 AU NM_001304476 exon2 c.6328-15T>C 0.334665 0.3819 0.289020 0.2237 0.3796 Uncertain 14_25288513_C->T 14 25288513 25288513 C T snp 1602.77 0/1 99 176 105 71 0.4 intronic rs872978 STXBP6 AU NM_001304476 exon2 c.6486+113C>T 0.207069 0.1766 0.1839 0.2394 Uncertain 14_25288648_T->A 14 25288648 25288648 T A snp 419.77 0/1 99 36 20 16 0.44 intronic rs872979 STXBP6 AU NM_001304476 exon2 c.6486+248T>A 0.20627 0.1786 Uncertain 14_25288687_G->A 14 25288687 25288687 G A snp 158.77 0/1 99 10 4 6 0.6 intronic rs2282034 STXBP6 AU NM_001304476 exon2 c.6486+287G>A 0.109026 0.1786 Uncertain 14_26939474_T->A 14 26939474 26939474 T A snp 406.77 1/1 30 16 0 16 1.0 UTR3 rs1245213 NOVA1 AU 0.542332 0.5675 Uncertain 14_26949490_T->C 14 26949490 26949490 T C snp 216.77 0/1 99 14 7 7 0.5 intronic rs145648632 NOVA1 AU NM_002515 exon3 c.32185+141T>C 0.0167732 0.0327 Uncertain 14_28734303_A->C 14 28734303 28734303 A C snp 65.77 0/1 94 12 9 3 0.25 intergenic rs12147374 LINC00645 AU 0.076278 0.0159 Uncertain 14_29242272_T->- 14 29242272 29242272 T - indel 213.73 1/1 33 33 0 33 1.0 ncRNA_intronic rs35069942 LINC01551 AU 0.665935 0.5853 Uncertain 14_29261309_-->AAC 14 29261309 29261309 - AAC indel 12378.7 1/1 99 228 0 228 1.0 ncRNA_exonic rs56025822 LINC01551 AU 0.421725 0.3998 0.4287 0.3947 ID=COSM1317865;OCCURENCE=1(haematopoietic_and_lymphoid_tissue) Uncertain 14_30047580_C->T 14 30047580 30047580 C T snp 488.77 0/1 99 35 11 24 0.69 ncRNA_intronic rs2273815 MIR548AI AU 0.626398 0.5387 0.731124 0.6894 0.5625 Uncertain 14_30063202_A->G 14 30063202 30063202 A G snp 786.77 0/1 99 61 32 29 0.48 ncRNA_intronic rs2273814 MIR548AI AU 0.216254 0.2639 Uncertain 14_30098349_T->C 14 30098349 30098349 T C snp 1634.77 1/1 99 66 0 66 1.0 ncRNA_intronic rs1191601 MIR548AI AU 0.427117 0.6925 0.446448 0.5268 0.6894 Uncertain 14_30102025_T->C 14 30102025 30102025 T C snp 2775.77 1/1 99 96 0 96 1.0 ncRNA_intronic rs1209180 MIR548AI AU 0.427316 0.6925 0.453867 0.5259 0.6899 Uncertain 14_30103441_T->C 14 30103441 30103441 T C snp 377.77 1/1 30 11 0 11 1.0 ncRNA_intronic rs1191599 MIR548AI AU 0.94389 0.9226 Uncertain 14_31050215_A->T 14 31050215 31050215 A T snp 667.77 1/1 48 24 0 24 1.0 intronic rs58049 G2E3 AU 0.592652 0.6498 0.472469 Uncertain 14_31059969_G->A 14 31059969 31059969 G A snp 4834.77 1/1 99 183 0 183 1.0 intronic rs7154847 G2E3 AU NM_017769 exon4 c.8405+1279G>A 0.482228 0.7063 0.3887 0.7090 Uncertain 14_31091758_T->A 14 31091758 31091758 T A snp 1521.77 1/1 99 48 0 48 1.0 intronic rs229143 SCFD1 AU NM_016106 exon1 c.61+153T>A 0.593051 0.6508 Uncertain 14_31097345_G->A 14 31097345 31097345 G A snp 687.77 1/1 51 21 0 21 1.0 intronic rs2273522 SCFD1 AU NM_016106 exon2 c.5870-69G>A 0.350439 0.6389 Uncertain 14_31099738_A->G 14 31099738 31099738 A G snp 1793.77 1/1 99 71 0 71 1.0 exonic rs229150 SCFD1 AU nonsynonymous SNV NM_016106 exon3 c.A188G p.K63R 0.577676 0.7103 0.466241 0.4326 0.6801 0.14 T 1.0 P -1.012 T 0.023 T 0.155 T Pathogenic 14_31103425_G->A 14 31103425 31103425 G A snp 295.78 1/1 24 9 0 9 1.0 intronic rs7149113 SCFD1 AU NM_016106 exon4 c.11699+182G>A 0.404952 0.6389 Uncertain 14_31103434_A->G 14 31103434 31103434 A G snp 250.8 1/1 21 8 0 8 1.0 intronic rs179287 SCFD1 AU NM_016106 exon4 c.11699+191A>G 0.577276 0.7113 Uncertain 14_31103891_A->G 14 31103891 31103891 A G snp 430.77 1/1 33 12 0 12 1.0 intronic rs229155 SCFD1 AU NM_016106 exon4 c.11699+648A>G 0.598642 0.7113 Uncertain 14_31107564_T->G 14 31107564 31107564 T G snp 2036.77 1/1 99 70 0 70 1.0 intronic rs229162 SCFD1 AU NM_016106 exon5 c.15909+111T>G 0.604034 0.7113 Uncertain 14_31108977_T->C 14 31108977 31108977 T C snp 1055.77 1/1 75 43 0 43 1.0 splicing rs2273521 SCFD1 AU NM_016106 exon6 c.17438-5T>C 0.417133 0.6389 0.310374 0.3224 0.6390 Pathogenic 14_31109275_T->C 14 31109275 31109275 T C snp 96.28 1/1 9 3 0 3 1.0 intronic rs2273520 SCFD1 AU NM_016106 exon6 c.17526+205T>C 0.417532 0.6389 Uncertain 14_31113310_G->C 14 31113310 31113310 G C snp 1894.77 1/1 99 73 0 73 1.0 intronic rs11851205 SCFD1 AU NM_016106 exon7 c.21067+699G>C 0.417133 0.6389 Uncertain 14_31118967_T->C 14 31118967 31118967 T C snp 264.8 1/1 21 8 0 8 1.0 intronic rs8012494 SCFD1 AU NM_016106 exon8 c.27245+178T>C 0.531749 0.7093 Uncertain 14_31139349_G->C 14 31139349 31139349 G C snp 222.84 1/1 18 6 0 6 1.0 intronic rs230364 SCFD1 AU NM_016106 exon11 c.47917-112G>C 0.603235 0.7103 Uncertain 14_31188414_A->G 14 31188414 31188414 A G snp 230.84 1/1 18 11 0 11 1.0 intronic rs11625381 SCFD1 AU NM_016106 exon21 c.96986-116A>G 0.605431 0.7113 Uncertain 14_31191772_T->C 14 31191772 31191772 T C snp 202.77 0/1 99 27 18 9 0.33 intronic rs17097130 SCFD1 AU NM_016106 exon23 c.100221+7T>C 0.247005 0.4683 0.168102 0.2288 0.4908 Uncertain 14_31344406_T->G 14 31344406 31344406 T G snp 56.74 1/1 6 2 0 2 1.0 intronic rs1569792 COCH AD NM_001135058 exon2 c.165+97T>G 0.998203 1 Uncertain 14_31348876_G->T 14 31348876 31348876 G T snp 406.77 1/1 33 11 0 11 1.0 ncRNA_intronic rs7140538 LOC100506071 AU 0.102835 0.2629 Uncertain 14_31349969_A->- 14 31349969 31349969 A - indel 1069.73 1/1 99 51 0 51 1.0 ncRNA_intronic rs10706771 LOC100506071 AU 0.10623 0.2629 0.054696 0.0746 0.2503 Uncertain 14_31354296_T->G 14 31354296 31354296 T G snp 4936.77 1/1 99 180 0 180 1.0 ncRNA_intronic rs28362773 LOC100506071 AU 0.119409 0.2629 0.075689 0.0898 0.2532 Uncertain 14_31355527_C->A 14 31355527 31355527 C A snp 2923.77 1/1 99 96 0 96 1.0 ncRNA_exonic rs17097458 LOC100506071 AU 0.0716853 0.1677 0.043425 0.0659 0.1723 Uncertain 14_31380191_T->G 14 31380191 31380191 T G snp 463.77 0/1 99 37 15 22 0.59 intronic rs3736742 STRN3 AU NM_001083893 exon6 c.15630-55T>G 0.305711 0.4653 Uncertain 14_31380216_A->- 14 31380216 31380216 A - indel 596.73 0/1 99 47 24 23 0.49 intronic rs3830860 STRN3 AU NM_001083893 exon6 c.15630-30delA 0.560503 0.4722 0.6577 0.4869 Uncertain 14_31381351_T->C 14 31381351 31381351 T C snp 1964.77 0/1 99 173 87 86 0.5 exonic rs2273171 STRN3 AU nonsynonymous SNV NM_014574 exon9 c.A1160G p.N387S 0.388978 0.4692 0.422728 0.4376 0.4831 0.01 T 1.000 P -0.930 T 0.399 T 0.138 T Pathogenic 14_31404277_T->C 14 31404277 31404277 T C snp 731.77 0/1 99 76 40 36 0.47 intronic rs9322868 STRN3 AU NM_001083893 exon12 c.39752-91T>C 0.766174 0.7817 Uncertain 14_31420047_T->C 14 31420047 31420047 T C snp 1670.77 0/1 99 143 70 73 0.51 intronic rs3736743 STRN3 AU NM_001083893 exon15 c.55452-21T>C 0.0948482 0.2044 0.037598 0.0662 0.2101 Uncertain 14_31483761_G->T 14 31483761 31483761 G T snp 128.85 0/1 17 7 1 6 0.86 intronic rs179724 STRN3 AU NM_001083893 exon18 c.130493-11348G>T 0.730032 0.6756 Uncertain 14_31494988_G->A 14 31494988 31494988 G A snp 158.77 0/1 99 17 10 7 0.41 UTR5 rs78648016 AP4S1 AR 0.0896565 0.2054 Uncertain 14_31535603_G->C 14 31535603 31535603 G C snp 5832.77 1/1 99 209 0 209 1.0 intronic rs6571386 AP4S1 AR NM_001254728 exon2 c.138+63G>C 0.945088 0.7808 Uncertain 14_31535756_C->G 14 31535756 31535756 C G snp 139.03 1/1 12 4 0 4 1.0 intronic rs6571387 AP4S1 AR NM_001254728 exon2 c.138+216C>G 0.858427 0.7113 Uncertain 14_31538939_A->G 14 31538939 31538939 A G snp 2096.77 1/1 99 71 0 71 1.0 intronic rs7150619 AP4S1 AR NM_001254728 exon3 c.3646-109A>G 0.416933 0.4018 Uncertain 14_31538984_C->G 14 31538984 31538984 C G snp 3742.77 1/1 99 126 0 126 1.0 intronic rs7155228 AP4S1 AR NM_001254728 exon3 c.3646-64C>G 0.727037 0.5268 Uncertain 14_31549745_T->G 14 31549745 31549745 T G snp 1255.77 0/1 99 108 57 51 0.47 intronic rs11621299 AP4S1 AR NM_001254728 exon5 c.14376-33T>G 0.850639 0.6617 0.891050 0.8565 0.6721 Uncertain 14_31582380_A->G 14 31582380 31582380 A G snp 731.77 1/1 54 26 0 26 1.0 exonic rs1315794 HECTD1 AU nonsynonymous SNV NM_015382 exon34 c.T6080C p.L2027P 0.999601 0.998 1.0000 0.9998 0.38 T 1.000 P -1.010 T 0.0 T 0.0 T Pathogenic 14_31597685_C->G 14 31597685 31597685 C G snp 1198.77 1/1 90 30 0 30 1.0 intronic rs7157007 HECTD1 AU NM_015382 exon19 c.27682-132C>G 0.998602 1 Uncertain 14_31625995_A->- 14 31625995 31625995 A - indel 47.73 0/1 85 27 19 8 0.3 intronic rs35553721 HECTD1 AU NM_015382 exon32 c.55910-50delA Uncertain 14_31763142_T->G 14 31763142 31763142 T G snp 2768.77 0/1 99 249 130 119 0.48 exonic rs61754460 HEATR5A AU nonsynonymous SNV NM_015473 exon35 c.A5788C p.I1930L 0.0265575 0.1062 0.000667 0.0249 0.1451 0.13 T 1 D -1.067 T 0.004 T 0.03 T Pathogenic 14_31787580_TTAT->- 14 31787580 31787583 TTAT - indel 2071.73 1/1 96 50 0 50 1.0 intronic rs149793070 HEATR5A AU NM_015473 exon11 c.24988+82_24988+85delTTAT 0.188698 0.3502 Uncertain 14_31793054_AT->- 14 31793054 31793055 AT - indel 330.74 1/1 27 18 0 18 1.0 intronic rs397820694 HEATR5A AU NM_015473 exon13 c.30500+44_30500+45delAT 0.809505 0.7986 0.8898 0.8169 Uncertain 14_31806943_T->C 14 31806943 31806943 T C snp 936.77 1/1 69 28 0 28 1.0 intronic rs4595710 HEATR5A AU NM_015473 exon15 c.44310+123T>C 0.806709 0.7897 Uncertain 14_31809486_C->T 14 31809486 31809486 C T snp 216.84 1/1 18 7 0 7 1.0 intronic rs8012940 HEATR5A AU NM_015473 exon15 c.44310+2666C>T 0.807708 0.7897 Uncertain 14_31809568_-->A 14 31809568 31809568 - A indel 1327.73 1/1 99 35 0 35 1.0 intronic rs11408327 HEATR5A AU NM_015473 exon15 c.44310+2748insA 0.822284 0.7956 Uncertain 14_31819047_C->T 14 31819047 31819047 C T snp 3737.77 1/1 99 136 0 136 1.0 exonic rs3736918 HEATR5A AU nonsynonymous SNV NM_015473 exon18 c.G2656A p.V886M 0.805112 0.7897 0.856845 0.8821 0.7765 0.02 T 1.000 P -1.076 T 1.0 D 0.999 D Pathogenic 14_31819913_A->G 14 31819913 31819913 A G snp 2460.77 1/1 99 96 0 96 1.0 exonic rs7158257 HEATR5A AU synonymous SNV NM_015473 exon17 c.T2422C p.L808L 0.805112 0.7897 0.856500 0.8826 0.7729 0.01 T 1.000 P -1.032 T Likely benign 14_31819967_TTTG->- 14 31819967 31819970 TTTG - indel 1617.73 1/1 84 68 0 68 1.0 intronic rs10602248 HEATR5A AU NM_015473 exon20 c.57413+44_57413+47delTTTG 0.8481 0.7052 Uncertain 14_31828076_A->C 14 31828076 31828076 A C snp 2420.77 1/1 99 84 0 84 1.0 intronic rs942907 HEATR5A AU NM_015473 exon22 c.65589-23A>C 0.820288 0.7956 0.868550 0.8878 0.7813 Uncertain 14_31841162_T->C 14 31841162 31841162 T C snp 2031.77 1/1 99 66 0 66 1.0 intronic rs5025288 HEATR5A AU NM_015473 exon24 c.78605+47T>C 0.822284 0.7976 0.878646 0.9025 0.8064 Uncertain 14_31844285_C->T 14 31844285 31844285 C T snp 267.8 1/1 21 7 0 7 1.0 intronic rs12885363 HEATR5A AU NM_015473 exon25 c.81664+111C>T 0.819089 0.7966 Uncertain 14_31858025_C->T 14 31858025 31858025 C T snp 2551.77 1/1 99 88 0 88 1.0 intronic rs3887865 HEATR5A AU NM_015473 exon30 c.95540-25C>T 0.81849 0.7956 0.867723 0.8870 0.7814 Uncertain 14_31864300_T->C 14 31864300 31864300 T C snp 642.77 1/1 48 19 0 19 1.0 intronic rs7142126 HEATR5A AU NM_015473 exon32 c.101894-104T>C 0.891573 0.9385 Uncertain 14_31864485_G->C 14 31864485 31864485 G C snp 3507.77 1/1 99 144 0 144 1.0 exonic rs7141532 HEATR5A AU nonsynonymous SNV NM_015473 exon5 c.C517G p.P173A 0.828674 0.879 0.9555 0.88 0.16 T 1.000 P -1.004 T 0.72 T 0.229 P Pathogenic 14_31922408_G->A 14 31922408 31922408 G A snp 1896.77 0/1 99 128 44 84 0.66 intronic rs34278949 DTD2 AU NM_080664 exon2 c.5146-72G>A 0.475839 0.4107 Uncertain 14_32032129_C->T 14 32032129 32032129 C T snp 186.77 0/1 99 26 14 12 0.46 intronic rs10143899 NUBPL AR,XD,AO NM_025152 exon2 c.776+708C>T 0.708466 0.6071 Uncertain 14_32047217_T->C 14 32047217 32047217 T C snp 2476.77 0/1 99 197 91 106 0.54 intronic rs7142098 NUBPL AR,XD,AO NM_001201573 exon1 c.3-14T>C 0.304113 0.3889 0.3886 0.3561 Uncertain 14_32123347_A->C 14 32123347 32123347 A C snp 101.77 0/1 99 16 12 4 0.25 intronic rs4981874 NUBPL AR,XD,AO NM_025152 exon5 c.111915-19213A>C 0.58127 0.3919 0.4934 0.3636 Uncertain 14_32142930_A->G 14 32142930 32142930 A G snp 37.77 0/1 66 4 2 2 0.5 intronic rs8013530 NUBPL AR,XD,AO NM_025152 exon6 c.112135+150A>G 0.563898 0.3929 Uncertain 14_32295772_T->A 14 32295772 32295772 T A snp 430.77 0/1 99 49 28 21 0.43 intronic rs17379143 NUBPL AR,XD,AO NM_025152 exon8 c.265189-62T>A 0.327875 0.376 Uncertain 14_32296018_A->G 14 32296018 32296018 A G snp 1134.77 1/1 54 38 1 37 0.97 intronic rs1540425 NUBPL AR,XD,AO NM_025152 exon8 c.265275+98A>G 0.952276 1 Uncertain 14_32315901_A->G 14 32315901 32315901 A G snp 1805.77 1/1 99 61 0 61 1.0 intronic rs8006872 NUBPL AR,XD,AO NM_025152 exon9 c.285152+104A>G 0.998802 1 Uncertain 14_32328164_G->T 14 32328164 32328164 G T snp 69.77 0/1 30 4 1 3 0.75 intronic rs3742923 NUBPL AR,XD,AO NM_025152 exon11 c.297678-159G>T 0.34365 0.4772 Uncertain 14_32414145_C->A 14 32414145 32414145 C A snp 847.77 1/1 63 27 0 27 1.0 intergenic rs1278926 NUBPL AR,XD,AO 0.711062 0.9236 0.7094 0.9167 -1.042 T Uncertain 14_32414386_C->A 14 32414386 32414386 C A snp 1912.77 1/1 99 67 0 67 1.0 intergenic rs1278927 NUBPL AR,XD,AO 0.695288 0.9226 Uncertain 14_32414463_T->C 14 32414463 32414463 T C snp 478.77 1/1 36 15 0 15 1.0 intergenic rs1278928 NUBPL AR,XD,AO 0.993211 1 Uncertain 14_32419235_A->G 14 32419235 32419235 A G snp 351.77 0/1 99 52 37 15 0.29 intergenic rs1278941 NUBPL AR,XD,AO 0.72484 0.6538 Uncertain 14_32419331_C->T 14 32419331 32419331 C T snp 1245.77 0/1 99 155 91 64 0.41 intergenic rs1278942 NUBPL AR,XD,AO 0.699281 0.6548 0.7535 0.5682 -1.014 T Uncertain 14_32419398_G->A 14 32419398 32419398 G A snp 1217.77 0/1 99 133 75 58 0.44 intergenic rs2236532 NUBPL AR,XD,AO 0.504393 0.631 0.5297 0.5156 Uncertain 14_32419548_C->T 14 32419548 32419548 C T snp 40.77 0/1 69 5 3 2 0.4 intergenic rs1278943 NUBPL AR,XD,AO 0.699281 0.6548 Uncertain 14_32438484_G->A 14 32438484 32438484 G A snp 638.77 0/1 99 91 63 28 0.31 intergenic rs1952966 NUBPL AR,XD,AO 0.495607 0.6667 0.489710 0.5036 0.6901 Uncertain 14_32563640_A->G 14 32563640 32563640 A G snp 892.77 1/1 66 37 0 37 1.0 intronic rs8004384 ARHGAP5 AU NM_001173 exon2 c.3717+48A>G 0.952476 1 0.947615 0.9586 0.9999 Uncertain 14_33014327_C->T 14 33014327 33014327 C T snp 376.77 0/1 99 34 21 13 0.38 intronic rs11844955 AKAP6 AU NM_004274 exon4 c.111736-108C>T 0.185503 0.119 Uncertain 14_33015014_G->A 14 33015014 33015014 G A snp 2284.77 0/1 99 250 155 95 0.38 exonic rs7150894 AKAP6 AU synonymous SNV NM_004274 exon4 c.G1155A p.T385T 0.728634 0.6171 0.747886 0.6819 0.6144 Uncertain 14_33046388_A->G 14 33046388 33046388 A G snp 6557.77 1/1 99 248 1 247 1.0 exonic rs1950703 AKAP6 AU synonymous SNV NM_004274 exon5 c.A2409G p.E803E 0.866414 0.997 0.810626 0.8353 0.9995 Uncertain 14_33046471_T->G 14 33046471 33046471 T G snp 1830.77 0/1 99 189 105 84 0.44 intronic rs768787 AKAP6 AU NM_004274 exon5 c.143749+23T>G 0.68111 0.8512 0.642934 0.6689 0.8651 Uncertain 14_33147414_C->G 14 33147414 33147414 C G snp 385.77 1/1 30 11 0 11 1.0 intronic rs1950697 AKAP6 AU NM_004274 exon8 c.244817-102C>G 0.73123 0.8254 Uncertain 14_33147765_C->A 14 33147765 33147765 C A snp 1211.77 1/1 90 38 0 38 1.0 intronic rs2273417 AKAP6 AU NM_004274 exon8 c.244966+100C>A 0.359026 0.5893 Uncertain 14_33165084_A->T 14 33165084 33165084 A T snp 59.74 1/1 6 3 0 3 1.0 intronic rs3742927 AKAP6 AU NM_004274 exon9 c.262496-111A>T 0.721046 0.8284 Uncertain 14_33165182_C->T 14 33165182 33165182 C T snp 922.77 1/1 66 33 0 33 1.0 intronic rs3742929 AKAP6 AU NM_004274 exon9 c.262496-13C>T 0.721446 0.8284 0.604260 0.6117 0.8549 Uncertain 14_33291494_C->T 14 33291494 33291494 C T snp 2850.77 0/1 99 249 139 110 0.44 exonic rs11845640 AKAP6 AU nonsynonymous SNV NM_004274 exon13 c.C4475T p.A1492V 0.265375 0.2679 0.207981 0.1530 0.2834 0.3 T 0.000 P -0.942 T 0.018 T 0.005 T Pathogenic 14_33292743_A->C 14 33292743 33292743 A C snp 6038.77 1/1 99 217 0 217 1.0 exonic rs2239647 AKAP6 AU synonymous SNV NM_004274 exon13 c.A5724C p.G1908G 0.711262 0.6696 0.650623 0.6078 0.7108 Uncertain 14_33292914_A->C 14 33292914 33292914 A C snp 3104.77 0/1 99 250 126 124 0.5 exonic rs2239648 AKAP6 AU synonymous SNV NM_004274 exon13 c.A5895C p.P1965P 0.266174 0.251 0.211748 0.1534 0.2580 Uncertain 14_33293122_A->G 14 33293122 33293122 A G snp 7408.77 1/1 99 250 0 250 1.0 exonic rs1051695 AKAP6 AU nonsynonymous SNV NM_004274 exon13 c.A6103G p.N2035D 0.710264 0.6716 0.639397 0.5964 0.7105 0.81 T 0.0 P -1.067 T 0.0 T 0.0 T Pathogenic 14_33293531_T->A 14 33293531 33293531 T A snp 2159.77 0/1 99 157 71 86 0.55 exonic rs4647899 AKAP6 AU nonsynonymous SNV NM_004274 exon13 c.T6512A p.F2171Y 0.268371 0.3413 0.261648 0.2902 0.3744 0.28 T 0.000 P -0.938 T 0.019 T 0.006 T Pathogenic 14_33294042_G->A 14 33294042 33294042 G A snp 548.77 0/1 99 42 23 19 0.45 intronic rs2057121 AKAP6 AU NM_004274 exon13 c.391322+21G>A 0.267971 0.3393 Uncertain 14_33836599_A->G 14 33836599 33836599 A G snp 200.77 0/1 60 8 2 6 0.75 intronic rs1609948 NPAS3 AU NM_022123 exon3 c.427952+125A>G 0.53734 0.4177 Uncertain 14_34047414_T->C 14 34047414 34047414 T C snp 1894.77 0/1 99 202 117 85 0.42 intronic rs1958541 NPAS3 AU NM_022123 exon4 c.620894+17998T>C 0.609625 0.6548 0.6716 0.7424 Uncertain 14_34149916_T->C 14 34149916 34149916 T C snp 2507.77 1/1 99 95 0 95 1.0 intronic rs2297118 NPAS3 AU NM_022123 exon5 c.737069+4325T>C 0.61242 0.7768 Uncertain 14_34149997_T->C 14 34149997 34149997 T C snp 1029.77 1/1 75 36 0 36 1.0 intronic rs2297117 NPAS3 AU NM_022123 exon5 c.737069+4406T>C 0.637181 0.6151 Uncertain 14_34243477_T->A 14 34243477 34243477 T A snp 1812.77 1/1 99 61 0 61 1.0 intronic rs8019077 NPAS3 AU NM_022123 exon7 c.835020-65T>A 0.834265 0.9494 Uncertain 14_34263035_AAA->- 14 34263035 34263037 AAA - indel 515.73 0/1 99 32 17 15 0.47 intronic rs36025922 NPAS3 AU NM_022123 exon9 c.854580-67_854580-65delAAA 0.489417 0.4742 Uncertain 14_34394886_G->A 14 34394886 34394886 G A snp 176.9 1/1 15 6 0 6 1.0 UTR3 rs1680709 EGLN3 AU 0.948882 0.9643 Uncertain 14_34396100_C->T 14 34396100 34396100 C T snp 741.77 1/1 54 25 0 25 1.0 intronic rs10137361 EGLN3 AU NM_022073 exon2 c.1069-65C>T 0.617612 0.6696 Uncertain 14_34993863_-->TGTGTGTGTGTGTG 14 34993863 34993863 - TGTGTGTGTGTGTG indel 6896.73 1/1 99 56 0 56 1.0 intronic rs367795110 EAPP AU NM_018453 exon2 c.8387-39insTGTGTGTGTGTGTG 0.271765 0.4117 Uncertain 14_35062166_T->C 14 35062166 35062166 T C snp 101.28 1/1 9 4 0 4 1.0 intronic rs12435717 SNX6 AU NM_152233 exon7 c.29923-84T>C 0.433107 0.7103 Uncertain 14_35062312_C->T 14 35062312 35062312 C T snp 635.77 1/1 45 27 0 27 1.0 exonic rs12432539 SNX6 AU synonymous SNV NM_021249 exon7 c.G309A p.E103E 0.773163 0.8115 0.773734 0.8071 0.8265 Uncertain 14_35075022_G->T 14 35075022 35075022 G T snp 5480.77 1/1 99 208 0 208 1.0 intronic rs7151774 SNX6 AU NM_152233 exon10 c.42596+99G>T 0.777157 0.8115 Uncertain 14_35099099_A->G 14 35099099 35099099 A G snp 2124.77 1/1 99 77 0 77 1.0 intronic rs11847568 SNX6 AU NM_152233 exon13 c.66785-13A>G 0.739217 0.7173 0.687247 0.6928 0.7244 Uncertain 14_35182407_ATA->- 14 35182407 35182409 ATA - indel 4219.73 1/1 99 82 0 82 1.0 intronic rs35219728 CFL2 AR NM_138638 exon3 c.389-52_389-50delATA 0.515176 0.7103 0.484982 Uncertain 14_35183645_G->A 14 35183645 35183645 G A snp 1057.77 1/1 75 46 0 46 1.0 upstream rs17523492 CFL2 AR 0.217851 0.6548 Uncertain 14_35222626_-->TTGT 14 35222626 35222626 - TTGT indel 422.73 0/1 99 27 19 8 0.3 UTR3 rs3832925 BAZ1A AU 0.226238 0.2153 0.3627 0.2864 Uncertain 14_35223971_A->G 14 35223971 35223971 A G snp 62.77 0/1 91 12 9 3 0.25 intronic rs8009900 BAZ1A AU NM_182648 exon2 c.1319-61A>G 0.252596 0.2569 Uncertain 14_35224294_C->T 14 35224294 35224294 C T snp 75.77 0/1 30 4 1 3 0.75 intronic rs8010579 BAZ1A AU NM_182648 exon2 c.1407+174C>T 0.350639 0.256 Uncertain 14_35227880_G->T 14 35227880 35227880 G T snp 1442.77 0/1 99 119 62 57 0.48 intronic rs61981201 BAZ1A AU NM_182648 exon3 c.5196-29G>T 0.280551 0.2569 0.330463 0.3342 0.2681 Uncertain 14_35228090_G->A 14 35228090 35228090 G A snp 2267.77 0/1 99 153 64 89 0.58 intronic rs61981202 BAZ1A AU NM_182648 exon3 c.5339+38G>A 0.169129 0.2202 0.193834 0.2154 0.2261 Uncertain 14_35230906_G->A 14 35230906 35230906 G A snp 254.77 0/1 99 21 10 11 0.52 intronic rs17526787 BAZ1A AU NM_182648 exon4 c.8249-56G>A 0.286941 0.2589 Uncertain 14_35237874_C->A 14 35237874 35237874 C A snp 98.77 0/1 99 16 10 6 0.38 intronic rs61981228 BAZ1A AU NM_182648 exon7 c.18003-2842C>A 0.186302 0.2202 0.2360 0.1875 Uncertain 14_35242828_G->A 14 35242828 35242828 G A snp 1160.77 0/1 99 91 38 53 0.58 exonic rs2275145 BAZ1A AU synonymous SNV NM_182648 exon19 c.C3006T p.D1002D 0.515375 0.4911 0.494309 0.5180 0.4837 Uncertain 14_35243006_G->A 14 35243006 35243006 G A snp 455.77 0/1 99 32 13 19 0.59 intronic rs2275146 BAZ1A AU NM_182648 exon8 c.20219+74G>A 0.586062 0.4911 Uncertain 14_35245748_A->G 14 35245748 35245748 A G snp 508.77 0/1 99 39 20 19 0.49 intronic rs17102726 BAZ1A AU NM_182648 exon10 c.23008+27A>G 0.173922 0.2202 0.196033 0.2295 0.2337 Uncertain 14_35465784_T->A 14 35465784 35465784 T A snp 367.77 0/1 99 26 14 12 0.46 intronic rs2273158 SRP54 AU 0.203474 0.369 Uncertain 14_35468893_T->A 14 35468893 35468893 T A snp 2536.77 1/1 99 100 0 100 1.0 intronic rs12433712 SRP54 AU NM_003136 exon3 c.2940+38T>A 0.422724 0.6786 0.338204 0.4002 0.6933 Uncertain 14_35469991_G->A 14 35469991 35469991 G A snp 900.77 0/1 99 47 17 30 0.64 intronic rs8017191 SRP54 AU NM_003136 exon4 c.4226-150G>A 0.229433 0.369 Uncertain 14_35470019_T->C 14 35470019 35470019 T C snp 1472.77 0/1 99 86 33 53 0.62 intronic rs8018114 SRP54 AU NM_003136 exon4 c.4226-122T>C 0.225839 0.369 Uncertain 14_35470049_G->A 14 35470049 35470049 G A snp 1974.77 0/1 99 141 59 82 0.58 intronic rs8017225 SRP54 AU NM_003136 exon4 c.4226-92G>A 0.235623 0.369 Uncertain 14_35476673_G->A 14 35476673 35476673 G A snp 56.74 1/1 6 2 0 2 1.0 intronic rs28456062 SRP54 AU NM_003136 exon5 c.10678+80G>A 0.704273 0.7817 Uncertain 14_35477785_G->A 14 35477785 35477785 G A snp 104.28 1/1 9 5 0 5 1.0 intronic rs1712351 SRP54 AU NM_003136 exon6 c.11917-47G>A 0.805112 0.8135 0.843895 0.8054 0.7896 Uncertain 14_35482448_A->G 14 35482448 35482448 A G snp 129.03 1/1 12 4 0 4 1.0 intronic rs2383691 SRP54 AU NM_003136 exon9 c.16636-103A>G 0.410343 0.6786 Uncertain 14_35482797_A->G 14 35482797 35482797 A G snp 2223.77 1/1 99 71 0 71 1.0 intronic rs2383692 SRP54 AU NM_003136 exon9 c.16785+97A>G 0.410343 0.6786 Uncertain 14_35483882_A->C 14 35483882 35483882 A C snp 549.77 0/1 99 29 8 21 0.72 intronic rs13379372 SRP54 AU NM_003136 exon11 c.18034-67A>C 0.193291 0.3095 Uncertain 14_35488309_A->G 14 35488309 35488309 A G snp 1241.77 1/1 90 43 0 43 1.0 intronic rs17102982 SRP54 AU NM_003136 exon13 c.22365+29A>G 0.409944 0.6786 0.311443 0.3984 0.7014 Uncertain 14_35492299_AGCTTGTTATTAGTTAAC->- 14 35492299 35492316 AGCTTGTTATTAGTTAAC - indel 5638.73 0/1 99 80 35 45 0.56 intronic rs150905407 SRP54 AU NM_003136 exon14 c.26371+13_26371+30delAGCTTGTTATTAGTTAAC 0.122738 Uncertain 14_35492318_G->C 14 35492318 35492318 G C snp 799.77 0/1 99 52 22 30 0.58 intronic rs202026003 SRP54 AU NM_003136 exon14 c.26371+32G>C Uncertain 14_35497285_T->C 14 35497285 35497285 T C snp 1023.77 0/1 99 116 70 46 0.4 intronic rs78609489 SRP54 AU NM_003136 exon15 c.31378-8T>C 0.161542 0.3056 0.056666 0.1766 0.3132 Uncertain 14_35498443_G->A 14 35498443 35498443 G A snp 193.77 0/1 99 19 11 8 0.42 UTR3 rs28577270 SRP54 AU 0.19349 0.3095 Uncertain 14_35515607_GG->- 14 35515607 35515608 GG - indel 1273.73 1/1 75 25 0 25 1.0 intronic rs4007475 FAM177A1 AU Uncertain 14_35515920_C->G 14 35515920 35515920 C G snp 1978.77 0/1 99 160 76 84 0.53 intronic rs2295103 FAM177A1 AU NM_001079519 exon3 c.96+86C>G 0.177716 0.3075 0.2502 0.3828 Uncertain 14_35516099_C->G 14 35516099 35516099 C G snp 256.77 0/1 99 12 4 8 0.67 intronic rs799474 FAM177A1 AU NM_001079519 exon3 c.96+265C>G 0.419728 0.4117 Uncertain 14_35565856_A->T 14 35565856 35565856 A T snp 956.77 0/1 99 96 52 44 0.46 ncRNA_intronic rs17091786 LOC101927178 AU 0.16254 0.3155 0.142341 0.1828 0.3194 Uncertain 14_35576458_A->C 14 35576458 35576458 A C snp 825.77 0/1 99 54 20 34 0.63 ncRNA_intronic rs10132769 LOC101927178 AU 0.416733 0.4117 0.479899 Uncertain 14_35579927_G->A 14 35579927 35579927 G A snp 493.77 0/1 99 34 13 21 0.62 ncRNA_intronic rs2295104 LOC101927178 AU 0.168331 0.3165 Uncertain 14_35585669_C->A 14 35585669 35585669 C A snp 42.77 0/1 36 4 2 2 0.5 intronic rs12437439 PPP2R3C AU NM_017917 exon12 c.31020-146C>A 0.167532 0.3155 Uncertain 14_35591174_T->C 14 35591174 35591174 T C snp 3066.77 0/1 99 249 124 125 0.5 UTR5 rs1056879 PPP2R3C AU 0.40635 0.3909 0.380517 0.3717 0.4010 Uncertain 14_35591316_G->A 14 35591316 35591316 G A snp 1151.77 0/1 99 57 17 40 0.7 UTR5 rs28365850 PPP2R3C AU 0.207069 0.3552 Uncertain 14_35592538_C->G 14 35592538 35592538 C G snp 1431.77 0/1 99 135 73 62 0.46 exonic rs941653 KIAA0391 AU synonymous SNV NM_001256678 exon2 c.C87G p.V29V 0.241813 0.3542 0.184453 0.2009 0.3618 Uncertain 14_35596092_C->A 14 35596092 35596092 C A snp 56.77 0/1 85 13 9 4 0.31 intronic rs10147080 KIAA0391 AU NM_014672 exon3 c.3537+104C>A 0.368211 0.3819 Uncertain 14_35747918_C->T 14 35747918 35747918 C T snp 437.77 0/1 99 46 27 19 0.41 intergenic rs17103147 KIAA0391 AU 0.177915 0.0377 0.0827 0.0379 0 D 0.0 P -0.983 T Uncertain 14_35748036_C->A 14 35748036 35748036 C A snp 166.77 0/1 63 9 2 7 0.78 intergenic rs10137019 KIAA0391 AU 0.221446 0.0387 Uncertain 14_35761592_G->A 14 35761592 35761592 G A snp 41.77 0/1 70 4 2 2 0.5 UTR5 rs2277459 PSMA6 AU 0.185104 0.0377 Uncertain 14_35761675_C->G 14 35761675 35761675 C G snp 739.77 0/1 99 56 27 29 0.52 UTR5 rs1048990 PSMA6 AU 0.190296 0.37 0.130940 0.1849 0.3628 CLINSIG=other;CLNDBN=Myocardial_infarction;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000007198.1;CLNDSDB=MedGen:SNOMED_CT;CLNDSDBID=C0027051:22298006 ID=CR063412;DIS=Myocardial infarction, association with;TAG=DFP;PUB=16845397 DFP Uncertain 14_35779398_T->- 14 35779398 35779398 T - indel 122.73 0/1 99 23 10 13 0.57 intronic rs33988739 PSMA6 AU NM_002791 exon4 c.18263-547delT 0.849441 0.869 0.3834 0.4756 Uncertain 14_35871217_G->A 14 35871217 35871217 G A snp 529.77 0/1 99 41 18 23 0.56 UTR3 rs8904 NFKBIA AD 0.447883 0.3948 0.444872 0.4011 0.4222 Uncertain 14_35871407_A->G 14 35871407 35871407 A G snp 958.77 1/1 69 37 0 37 1.0 intronic rs1022714 NFKBIA AD NM_020529 exon1 c.48+141A>G 0.817292 0.7272 Uncertain 14_35871441_-->GTAAGCTATTAAAAAAAGG 14 35871441 35871441 - GTAAGCTATTAAAAAAAGG indel 1781.73 0/1 99 25 14 11 0.44 intronic rs70937092 NFKBIA AD NM_020529 exon2 c.381-158insGTAAGCTATTAAAAAAAGG 0.510184 0.3135 Uncertain 14_35872792_A->G 14 35872792 35872792 A G snp 3627.77 1/1 99 125 0 125 1.0 intronic rs2233415 NFKBIA AD NM_020529 exon5 c.1677-103A>G 0.666733 0.6488 Uncertain 14_35873770_G->A 14 35873770 35873770 G A snp 2705.77 0/1 99 242 117 125 0.52 exonic rs1957106 NFKBIA AD synonymous SNV NM_020529 exon1 c.C81T p.D27D 0.244409 0.2649 0.228693 0.3431 0.3266 Uncertain 14_36004075_A->G 14 36004075 36004075 A G snp 5522.77 1/1 99 201 0 201 1.0 exonic rs1958260 INSM2 AU nonsynonymous SNV NM_032594 exon1 c.A617G p.D206G 0.996605 1 0.996689 0.9988 1 0.76 T 0.0 P -1.037 T 0.0 T 0.0 T Pathogenic 14_36096255_-->A 14 36096255 36096255 - A indel 407.73 0/1 6 39 6 33 0.85 ncRNA_intronic rs34349314 RALGAPA1P AU 0.532748 0.5337 0.4967 0.4889 Uncertain 14_36121088_A->- 14 36121088 36121088 A - indel 735.73 1/1 72 27 0 27 1.0 ncRNA_intronic rs35892589 RALGAPA1P AU 0.995208 1 0.9983 0.9999 Uncertain 14_36143479_T->C 14 36143479 36143479 T C snp 572.77 0/1 99 70 44 26 0.37 exonic rs145593639 RALGAPA1 AU synonymous SNV NM_014990 exon23 c.A3306G p.R1102R 0.000599042 0.003 0.0002 0.0020 Uncertain 14_36231816_G->A 14 36231816 36231816 G A snp 1127.77 1/1 81 42 0 42 1.0 ncRNA_intronic rs11847872 RALGAPA1P AU 0.994808 1 Uncertain 14_36943919_G->T 14 36943919 36943919 G T snp 464.77 1/1 36 14 0 14 1.0 intronic rs2057328 SFTA3 AU NM_001101341 exon1 c.24+833G>T 0.939097 0.996 Uncertain 14_36944188_G->A 14 36944188 36944188 G A snp 2960.77 1/1 99 98 0 98 1.0 intronic rs1012914 SFTA3 AU NM_001101341 exon1 c.24+1102G>A 0.807109 0.995 Uncertain 14_37131993_G->C 14 37131993 37131993 G C snp 888.77 1/1 66 24 0 24 1.0 intronic rs12883298 PAX9 AD NM_006194 exon3 c.807-108G>C 0.552117 0.749 Uncertain 14_37132048_A->G 14 37132048 37132048 A G snp 2001.77 1/1 99 65 0 65 1.0 intronic rs12882923 PAX9 AD NM_006194 exon3 c.807-53A>G 0.552117 0.749 Uncertain 14_37132061_A->G 14 37132061 37132061 A G snp 2580.77 1/1 99 88 0 88 1.0 intronic rs12883049 PAX9 AD NM_006194 exon3 c.807-40A>G 0.217652 0.3165 0.2079 0.2726 Uncertain 14_37132769_G->A 14 37132769 37132769 G A snp 2392.77 1/1 99 91 0 91 1.0 intronic rs2236007 PAX9 AD NM_006194 exon3 c.1434+41G>A 0.166334 0.3155 0.155822 0.1897 0.2956 Uncertain 14_37135752_C->T 14 37135752 37135752 C T snp 1794.77 1/1 99 65 0 65 1.0 exonic rs12881240 PAX9 AD synonymous SNV NM_006194 exon4 c.C717T p.H239H 0.160144 0.3155 0.152090 0.2163 0.3330 Uncertain 14_37140504_C->T 14 37140504 37140504 C T snp 480.77 1/1 36 14 0 14 1.0 intronic rs8004187 PAX9 AD NM_006194 exon4 c.4512+4698C>T 0.565296 0.753 Uncertain 14_37149943_-->T 14 37149943 37149943 - T indel 2182.73 0/1 99 195 103 92 0.47 intronic rs146639486 SLC25A21 AU NM_001171170 exon2 c.2236+19insT 0.130591 0.2946 0.067732 0.0789 0.3032 Uncertain 14_37153163_A->G 14 37153163 37153163 A G snp 2962.77 1/1 99 107 0 107 1.0 intronic rs1884217 SLC25A21 AU NM_001171170 exon3 c.5397+78A>G 0.628195 0.7996 Uncertain 14_37153185_T->A 14 37153185 37153185 T A snp 2218.77 1/1 99 78 0 78 1.0 intronic rs10132292 SLC25A21 AU NM_001171170 exon3 c.5397+100T>A 0.629792 0.8036 Uncertain 14_37153862_C->G 14 37153862 37153862 C G snp 182.77 0/1 99 15 9 6 0.4 intronic rs17105034 SLC25A21 AU NM_001171170 exon4 c.6260-86C>G 0.103035 0.3006 Uncertain 14_37203617_-->TA 14 37203617 37203617 - TA indel 591.73 0/1 99 43 26 17 0.4 intronic rs3061575 SLC25A21 AU NM_001171170 exon8 c.56023-94insTA 0.459864 0.3264 Uncertain 14_37203643_A->- 14 37203643 37203643 A - indel 2443.73 1/1 99 59 0 59 1.0 intronic rs397852876 SLC25A21 AU NM_001171170 exon8 c.56023-68delA 0.778554 0.6339 Uncertain 14_37203697_G->A 14 37203697 37203697 G A snp 1038.77 0/1 99 84 36 48 0.57 intronic rs10135196 SLC25A21 AU NM_001171170 exon8 c.56023-14G>A 0.247604 0.3056 0.209672 0.3392 0.4090 Uncertain 14_37344229_-->G 14 37344229 37344229 - G indel 6582.73 1/1 99 149 0 149 1.0 intronic rs5807914 SLC25A21 AU NM_001171170 exon10 c.196521+20insG 0.820088 0.8075 0.852476 0.8896 0.8177 Uncertain 14_37344275_C->T 14 37344275 37344275 C T snp 3016.77 1/1 99 100 0 100 1.0 intronic rs712384 SLC25A21 AU NM_001171170 exon10 c.196521+66C>T 0.819888 0.8065 0.862462 Uncertain 14_37344347_C->T 14 37344347 37344347 C T snp 1010.77 1/1 75 31 0 31 1.0 intronic rs2021404 SLC25A21 AU NM_001171170 exon10 c.196521+138C>T 0.361621 0.247 Uncertain 14_37641880_C->A 14 37641880 37641880 C A snp 1695.77 0/1 99 172 92 80 0.47 ncRNA_exonic rs1403 SLC25A21-AS1 AU 0.486022 0.5357 0.6682 0.5538 Uncertain 14_37738197_C->T 14 37738197 37738197 C T snp 34.77 0/1 63 5 3 2 0.4 intronic rs10145536 MIPOL1 AU NM_001195296 exon7 c.20905+199C>T 0.464856 0.503 Uncertain 14_37838604_-->A 14 37838604 37838604 - A indel 253.73 0/1 43 15 3 12 0.8 intronic rs35277854 MIPOL1 AU NM_001195296 exon12 c.121628-117insA 0.766174 0.7798 Uncertain 14_38016044_C->G 14 38016044 38016044 C G snp 346.77 0/1 99 24 10 14 0.58 intronic rs10151200 MIPOL1 AU NM_001195296 exon15 c.299016-65C>G 0.632188 0.8403 0.580158 Uncertain 14_38061742_C->T 14 38061742 38061742 C T snp 2163.77 0/1 99 183 85 98 0.54 exonic rs7144658 FOXA1 AU nonsynonymous SNV NM_004496 exon2 c.G247A p.A83T 0.583067 0.8442 0.538688 0.6084 0.8638 0.54 T 0.979 P -1.032 T 0.009 T 0.013 T Pathogenic 14_38064009_G->C 14 38064009 38064009 G C snp 640.77 0/1 99 34 12 22 0.65 intronic rs762083 FOXA1 AU NM_004496 exon2 c.3536-96G>C 0.609425 0.8442 Uncertain 14_38091847_C->G 14 38091847 38091847 C G snp 1445.77 0/1 99 95 41 54 0.57 intergenic FOXA1 AU -1.028 T Uncertain 14_38165784_A->G 14 38165784 38165784 A G snp 96.28 1/1 9 3 0 3 1.0 intergenic rs960787 FOXA1 AU 0.663538 0.8383 Uncertain 14_38205027_T->C 14 38205027 38205027 T C snp 372.77 1/1 30 10 0 10 1.0 intergenic rs1570399 FOXA1 AU 0.652556 0.874 Uncertain 14_38206818_G->A 14 38206818 38206818 G A snp 877.77 1/1 63 31 0 31 1.0 intergenic rs4901157 FOXA1 AU 0.655551 0.875 0.6866 0.8788 Uncertain 14_38207018_A->T 14 38207018 38207018 A T snp 128.03 1/1 12 5 0 5 1.0 intergenic rs17107021 FOXA1 AU 0.655351 0.874 Uncertain 14_38218872_T->G 14 38218872 38218872 T G snp 506.77 1/1 39 18 0 18 1.0 intergenic rs17768594 FOXA1 AU 0.626198 0.871 0.6321 0.8623 Uncertain 14_38222291_G->C 14 38222291 38222291 G C snp 1192.77 1/1 87 48 0 48 1.0 intergenic rs4901176 FOXA1 AU 0.896166 1 0.9153 1 Uncertain 14_38259876_G->A 14 38259876 38259876 G A snp 344.77 0/1 99 27 15 12 0.44 intergenic rs12590844 FOXA1 AU 0.200679 0.3571 0.1665 0.3454 Uncertain 14_38260034_T->C 14 38260034 38260034 T C snp 821.77 0/1 99 74 40 34 0.46 intergenic rs17107106 FOXA1 AU 0.161741 0.3264 0.1312 0.3182 Uncertain 14_38260089_C->T 14 38260089 38260089 C T snp 408.77 0/1 99 40 20 20 0.5 intergenic rs7153624 FOXA1 AU 0.861422 0.8224 0.9671 0.8214 Uncertain 14_38265344_T->A 14 38265344 38265344 T A snp 96.28 1/1 9 3 0 3 1.0 intergenic rs1951639 FOXA1 AU 0.904353 0.8224 Uncertain 14_38276408_T->C 14 38276408 38276408 T C snp 150.77 0/1 99 8 3 5 0.63 intergenic rs66617416 FOXA1 AU 0.205072 0.3611 Uncertain 14_38276433_G->A 14 38276433 38276433 G A snp 194.77 0/1 99 13 5 8 0.62 intergenic rs66496750 FOXA1 AU 0.204872 0.3611 Uncertain 14_38679473_C->T 14 38679473 38679473 C T snp 3554.77 0/1 99 250 131 119 0.48 exonic rs2228497 SSTR1 AU synonymous SNV NM_001049 exon3 c.C879T p.V293V 0.205871 0.0685 0.255882 0.2656 0.0623 Uncertain 14_39502539_-->A 14 39502539 39502539 - A indel 1401.73 1/1 99 55 0 55 1.0 intronic rs11418467 SEC23A AR NM_006364 exon1 c.90+7insA 0.908546 0.9653 0.937280 0.9171 0.9702 Uncertain 14_39508067_G->T 14 39508067 39508067 G T snp 50.74 1/1 6 2 0 2 1.0 intronic rs1555257 SEC23A AR NM_006364 exon2 c.5792-167G>T 0.361022 0.2758 Uncertain 14_39511953_T->- 14 39511953 39511953 T - indel 1508.73 1/1 99 38 0 38 1.0 intronic rs3837584 SEC23A AR NM_006364 exon4 c.9547-36delT 0.199681 0.2569 0.2500 0.2586 Uncertain 14_39512122_T->A 14 39512122 39512122 T A snp 569.77 1/1 45 20 0 20 1.0 intronic rs4902326 SEC23A AR NM_006364 exon4 c.9634+46T>A 0.728435 0.8026 0.768964 0.7520 0.7815 Uncertain 14_39514231_T->A 14 39514231 39514231 T A snp 519.77 1/1 39 16 0 16 1.0 intronic rs1884384 SEC23A AR NM_006364 exon5 c.11924-135T>A 0.799121 0.746 Uncertain 14_39517691_T->A 14 39517691 39517691 T A snp 455.77 1/1 36 16 0 16 1.0 intronic rs4902344 SEC23A AR NM_006364 exon6 c.15413-164T>A 0.75639 0.8948 Uncertain 14_39543508_T->C 14 39543508 39543508 T C snp 190.77 0/1 50 8 2 6 0.75 intronic rs12164875 SEC23A AR NM_006364 exon12 c.41176-110T>C 0.145567 0.1438 Uncertain 14_39554894_AC->- 14 39554894 39554895 AC - indel 135.73 0/1 99 20 13 7 0.35 intronic rs66970820 SEC23A AR NM_006364 exon14 c.52523-71_52523-70delAC Uncertain 14_39556185_G->C 14 39556185 39556185 G C snp 2941.77 1/1 99 119 0 119 1.0 exonic rs8018720 SEC23A AR nonsynonymous SNV NM_006364 exon6 c.C631G p.L211V 0.778754 0.6488 0.836306 0.8042 0.6526 0.64 T 0.000 P -0.966 T 0.0 T 0.0 T Pathogenic 14_39583481_A->G 14 39583481 39583481 A G snp 941.77 0/1 99 61 24 37 0.61 upstream rs2277458 GEMIN2 AU 0.77496 0.6349 0.837075 0.8094 0.6455 Uncertain 14_39587348_A->G 14 39587348 39587348 A G snp 140.77 0/1 99 21 15 6 0.29 intronic rs10136536 GEMIN2 AU NM_001009182 exon3 c.3783+56A>G 0.206869 0.2331 0.218134 Uncertain 14_39603156_C->T 14 39603156 39603156 C T snp 42.77 0/1 31 4 2 2 0.5 intronic rs10130972 GEMIN2 AU NM_001009182 exon8 c.19414+233C>T 0.20607 0.2331 Uncertain 14_39605542_T->C 14 39605542 39605542 T C snp 172.77 0/1 99 16 9 7 0.44 intronic rs9322993 GEMIN2 AU NM_001009182 exon9 c.22134-101T>C 0.823482 0.9435 Uncertain 14_39620936_C->T 14 39620936 39620936 C T snp 645.77 0/1 99 49 21 28 0.57 intronic rs8003807 TRAPPC6B AU NM_001079537 exon2 c.1396-13C>T 0.903355 0.9435 0.938144 0.9156 0.9529 Uncertain 14_39623533_T->C 14 39623533 39623533 T C snp 338.77 0/1 99 26 12 14 0.54 intronic rs12147991 TRAPPC6B AU NM_001079537 exon3 c.3945+35T>C 0.1873 0.2331 0.196365 0.2550 0.2428 Uncertain 14_39627695_C->T 14 39627695 39627695 C T snp 381.77 0/1 99 36 18 18 0.5 intronic rs9322994 TRAPPC6B AU NM_001079537 exon4 c.8053+89C>T 0.186901 0.2321 Uncertain 14_39627747_A->G 14 39627747 39627747 A G snp 114.77 0/1 99 12 6 6 0.5 intronic rs761804 TRAPPC6B AU NM_001079537 exon4 c.8053+141A>G 0.903355 0.9435 Uncertain 14_39644498_G->A 14 39644498 39644498 G A snp 474.77 0/1 99 63 41 22 0.35 exonic rs1061583 PNN AU synonymous SNV NM_002687 exon1 c.G15A p.V5V 0.186701 0.2321 0.190912 0.2511 0.2405 Uncertain 14_39645863_G->A 14 39645863 39645863 G A snp 315.77 0/1 99 20 7 13 0.65 intronic rs2252040 PNN AU NM_002687 exon3 c.1316+64G>A 0.903155 0.9444 0.938020 Uncertain 14_39645921_-->C 14 39645921 39645921 - C indel 148.73 0/1 65 11 3 8 0.73 intronic rs3215670 PNN AU NM_002687 exon3 c.1316+122insC 0.251198 0.2331 Uncertain 14_39649781_A->G 14 39649781 39649781 A G snp 1299.77 0/1 99 116 57 59 0.51 exonic rs142700275 PNN AU nonsynonymous SNV NM_002687 exon9 c.A868G p.M290V 0.00599042 0.0238 0.000231 0.0014 0.0177 0.35 T 1 D -1.105 T 0.001 T 0.001 T Pathogenic 14_39650234_A->T 14 39650234 39650234 A T snp 1173.77 0/1 99 131 80 51 0.39 exonic rs2180792 PNN AU nonsynonymous SNV NM_002687 exon9 c.A1321T p.T441S 0.902955 0.9435 0.938259 0.9155 0.9538 0.9 T 1.000 P -0.938 T Pathogenic 14_39651138_C->T 14 39651138 39651138 C T snp 1110.77 0/1 99 88 44 44 0.5 UTR3 rs150671351 PNN AU 0.00519169 0.0258 Uncertain 14_39651193_A->G 14 39651193 39651193 A G snp 485.77 0/1 99 26 12 14 0.54 UTR3 rs532 PNN AU 0.138778 0.1458 Uncertain 14_39703324_A->G 14 39703324 39703324 A G snp 2344.77 0/1 99 227 130 97 0.43 exonic rs7141840 MIA2 AU synonymous SNV NM_054024 exon1 c.A6G p.A2A 0.59984 0.6548 0.598801 0.5268 0.6805 Uncertain 14_39715917_T->C 14 39715917 39715917 T C snp 44.77 0/1 33 3 1 2 0.67 intronic rs6571908 MIA2 AU NM_054024 exon4 c.12796-197T>C 0.192093 0.1488 Uncertain 14_39736680_T->C 14 39736680 39736680 T C snp 474.77 0/1 99 64 38 26 0.41 exonic rs7140561 CTAGE5 AU nonsynonymous SNV NM_001247989 exon1 c.T17C p.V6A 0.91254 0.9405 0.946179 0.9223 0.9590 0.0 P -1.049 T 0.0 T 0.0 T Pathogenic 14_39748480_G->A 14 39748480 39748480 G A snp 91.77 0/1 99 24 18 6 0.25 intronic rs7158558 CTAGE5 AU NM_203356 exon3 c.2379-60G>A 0.910144 0.9405 0.939500 Uncertain 14_39763006_T->C 14 39763006 39763006 T C snp 154.77 0/1 99 11 4 7 0.64 intronic rs956109 CTAGE5 AU NM_203356 exon7 c.17042-197T>C 0.490815 0.4246 Uncertain 14_39773639_G->T 14 39773639 39773639 G T snp 639.77 0/1 99 46 16 30 0.65 intronic rs2274398 CTAGE5 AU NM_203356 exon12 c.27424+54G>T 0.835663 0.9325 0.866123 Uncertain 14_39784012_A->G 14 39784012 39784012 A G snp 158.77 0/1 99 32 19 13 0.41 intronic rs12436164 CTAGE5 AU NM_203356 exon15 c.37842+9A>G 0.177117 0.131 Uncertain 14_39784014_A->G 14 39784014 39784014 A G snp 225.77 0/1 99 32 19 13 0.41 intronic rs2415539 CTAGE5 AU NM_203356 exon15 c.37842+11A>G 0.701877 0.7659 0.524650 Uncertain 14_39784042_A->G 14 39784042 39784042 A G snp 85.77 0/1 99 10 5 5 0.5 intronic rs2415540 CTAGE5 AU NM_203356 exon15 c.37842+39A>G 0.78115 0.8244 0.7073 0.6504 Uncertain 14_39784044_A->G 14 39784044 39784044 A G snp 79.77 0/1 99 10 5 5 0.5 intronic rs112379214 CTAGE5 AU NM_203356 exon15 c.37842+41A>G 0.265575 0.2153 0.3978 0.3009 Uncertain 14_39784965_G->T 14 39784965 39784965 G T snp 259.77 0/1 99 26 15 11 0.42 intronic rs10150863 CTAGE5 AU NM_203356 exon16 c.38761+43G>T 0.83746 0.9325 0.853404 0.8950 0.9537 Uncertain 14_39796049_T->- 14 39796049 39796049 T - indel 702.73 0/1 99 59 26 33 0.56 intronic rs36031495 CTAGE5 AU NM_203356 exon20 c.49906-18delT 0.907548 0.9276 0.9169 0.9517 Uncertain 14_39818222_G->T 14 39818222 39818222 G T snp 396.77 0/1 99 43 23 20 0.47 intronic rs7156249 CTAGE5 AU NM_203356 exon23 c.72020+41G>T 0.910743 0.9494 0.9080 0.9595 Uncertain 14_39856043_G->C 14 39856043 39856043 G C snp 878.77 0/1 99 87 50 37 0.43 intergenic rs10146207 CTAGE5 AU 0.921326 0.9405 0.9260 0.9606 Uncertain 14_42355771_C->T 14 42355771 42355771 C T snp 753.77 1/1 57 25 0 25 1.0 intronic rs721222 LRFN5 AU 0.703674 0.7421 Uncertain 14_42360633_T->C 14 42360633 42360633 T C snp 5780.77 1/1 99 199 3 196 0.98 exonic rs6572117 LRFN5 AU synonymous SNV NM_152447 exon4 c.T1566C p.S522S 0.705272 0.745 0.700292 0.6975 0.7476 Uncertain 14_42882525_C->T 14 42882525 42882525 C T snp 69.77 0/1 98 12 8 4 0.33 intergenic rs2626451 LRFN5 AU 0.113818 0.0952 Uncertain 14_42997963_A->G 14 42997963 42997963 A G snp 1091.77 0/1 99 85 34 51 0.6 intergenic rs9323070 LRFN5 AU 0.41853 0.2956 0.5391 0.2727 -0.927 T Uncertain 14_42998026_T->C 14 42998026 42998026 T C snp 1215.77 1/1 87 45 0 45 1.0 intergenic rs10148466 LRFN5 AU 1 1 1 1 -1.034 T Uncertain 14_44973638_C->T 14 44973638 44973638 C T snp 635.77 0/1 99 49 22 27 0.55 UTR3 rs412408 FSCB AU 0.440495 0.3879 Uncertain 14_44974189_C->A 14 44974189 44974189 C A snp 92.77 0/1 99 15 9 6 0.4 exonic rs11621923 FSCB AU nonsynonymous SNV NM_032135 exon1 c.G2002T p.A668S 0.3260 0.3256 0.56 T 0.0 P -0.929 T 0.118 T 0.051 T Pathogenic 14_44974922_A->T 14 44974922 44974922 A T snp 445.77 0/1 99 52 32 20 0.38 exonic rs3825632 FSCB AU nonsynonymous SNV NM_032135 exon1 c.T1269A p.D423E 0.440096 0.3869 0.458501 0.4490 0.4069 1 T 0.0 P -0.939 T 0.0 T 0.0 T Pathogenic 14_44975510_C->T 14 44975510 44975510 C T snp 1353.77 0/1 99 137 80 57 0.42 exonic rs3809430 FSCB AU synonymous SNV NM_032135 exon1 c.G681A p.P227P 0.324481 0.3859 0.328233 0.3437 0.4019 Uncertain 14_44975511_G->A 14 44975511 44975511 G A snp 2066.77 0/1 99 138 58 80 0.58 exonic rs45478391 FSCB AU nonsynonymous SNV NM_032135 exon1 c.C680T p.P227L 0.108027 0.0833 0.152776 0.1829 0.0910 0.28 T 0.0 P -0.963 T 0.093 T 0.016 T Pathogenic 14_47121015_G->- 14 47121015 47121015 G - indel 1017.73 0/1 99 49 21 28 0.57 UTR5 rs3842319 RPL10L AU 0.00758786 0.0357 Uncertain 14_47310983_T->C 14 47310983 47310983 T C snp 224.77 0/1 99 14 4 10 0.71 UTR3 rs11844549 MDGA2 AU 0.326877 0.2748 Uncertain 14_47314938_C->T 14 47314938 47314938 C T snp 1114.77 0/1 99 97 52 45 0.46 intronic rs1388568 MDGA2 AU NM_182830 exon2 c.3835-30C>T 0.420727 0.627 0.369422 0.4531 0.6393 Uncertain 14_47315127_G->A 14 47315127 47315127 G A snp 1344.77 0/1 99 128 71 57 0.45 intronic rs1388567 MDGA2 AU NM_182830 exon2 c.3941+53G>A 0.569089 0.627 Uncertain 14_47341131_C->G 14 47341131 47341131 C G snp 667.77 1/1 51 19 0 19 1.0 intronic rs2933208 MDGA2 AU NM_182830 exon4 c.31502-1504C>G 0.947684 1 0.9934 1 Uncertain 14_47528470_T->C 14 47528470 47528470 T C snp 6128.77 1/1 99 246 0 246 1.0 intronic rs8009302 MDGA2 AU NM_182830 exon11 c.219318-1981T>C 0.920727 0.998 0.8878 1 Uncertain 14_47528540_T->C 14 47528540 47528540 T C snp 2466.77 0/1 99 225 117 108 0.48 intronic rs12589300 MDGA2 AU NM_182830 exon11 c.219318-1911T>C 0.01877 0.0913 0.0036 0.1288 Uncertain 14_47530845_G->C 14 47530845 47530845 G C snp 897.77 1/1 66 26 0 26 1.0 intronic rs7147741 MDGA2 AU NM_182830 exon11 c.219648+64G>C 0.913938 0.998 Uncertain 14_47582348_T->C 14 47582348 47582348 T C snp 133.03 1/1 12 5 0 5 1.0 intronic rs8006750 MDGA2 AU NM_182830 exon12 c.255193+16022T>C 0.541334 0.5347 Uncertain 14_47582579_G->A 14 47582579 47582579 G A snp 50.74 1/1 6 3 0 3 1.0 intronic rs2209648 MDGA2 AU NM_182830 exon12 c.255193+16253G>A 0.539537 0.5298 Uncertain 14_47687187_A->C 14 47687187 47687187 A C snp 769.77 1/1 57 23 0 23 1.0 intronic rs8011854 MDGA2 AU NM_182830 exon15 c.376090-36A>C 0.890775 0.9425 0.877739 0.8609 0.9366 Uncertain 14_48143852_C->T 14 48143852 48143852 C T snp 2807.77 0/1 99 231 116 115 0.5 UTR5 rs78711719 MDGA2 AU 0.0732827 0.2192 0.001752 0.0406 0.2367 1.000 P -1.080 T Uncertain 14_50175792_T->C 14 50175792 50175792 T C snp 601.77 1/1 45 16 0 16 1.0 intronic rs11157703 KLHDC1 AU NM_172193 exon2 c.15964-84T>C 0.938698 1 Uncertain 14_50195679_A->G 14 50195679 50195679 A G snp 2300.77 1/1 99 82 0 82 1.0 exonic rs4301946 KLHDC1 AU synonymous SNV NM_172193 exon7 c.A603G p.T201T 0.907748 1 0.905736 0.9747 0.9995 Uncertain 14_50199337_-->T 14 50199337 50199337 - T indel 178.73 0/1 52 12 3 9 0.75 intronic rs397792961 KLHDC1 AU NM_172193 exon9 c.39509-84insT 0.858826 0.9663 Uncertain 14_50199375_A->C 14 50199375 50199375 A C snp 923.77 1/1 69 32 0 32 1.0 intronic rs10146753 KLHDC1 AU NM_172193 exon9 c.39509-46A>C 0.908147 1 0.907168 0.9764 1 Uncertain 14_50199680_T->C 14 50199680 50199680 T C snp 175.9 1/1 15 5 0 5 1.0 intronic rs10136379 KLHDC1 AU NM_172193 exon9 c.39622+146T>C 0.90595 1 Uncertain 14_50206702_G->A 14 50206702 50206702 G A snp 56.74 1/1 6 3 0 3 1.0 intronic rs4898631 KLHDC1 AU NM_172193 exon11 c.46903-113G>A 0.925719 1 Uncertain 14_50241258_A->C 14 50241258 50241258 A C snp 2742.77 1/1 99 96 0 96 1.0 intronic rs4499141 KLHDC2 AU NM_014315 exon3 c.6092-20A>C 0.95607 1 0.959557 0.9884 1 Uncertain 14_50244835_C->T 14 50244835 50244835 C T snp 1620.77 1/1 99 55 0 55 1.0 intronic rs4900949 KLHDC2 AU NM_014315 exon5 c.9709-60C>T 0.996605 1 Uncertain 14_50245374_C->A 14 50245374 50245374 C A snp 131.03 1/1 12 5 0 5 1.0 intronic rs6572613 KLHDC2 AU NM_014315 exon6 c.10026+162C>A 0.96226 1 Uncertain 14_50246764_A->T 14 50246764 50246764 A T snp 86.28 1/1 9 3 0 3 1.0 intronic rs4488363 KLHDC2 AU NM_014315 exon9 c.11744-166A>T 0.957268 1 Uncertain 14_50247290_G->T 14 50247290 50247290 G T snp 582.77 1/1 45 23 0 23 1.0 intronic rs4900952 KLHDC2 AU NM_014315 exon10 c.12234-130G>T 0.958067 1 Uncertain 14_50251369_A->G 14 50251369 50251369 A G snp 2122.77 1/1 99 83 0 83 1.0 exonic rs10143621 NEMF AU synonymous SNV NM_001301732 exon32 c.T3153C p.N1051N 0.958866 1 0.962769 0.9897 1 Uncertain 14_50251888_C->T 14 50251888 50251888 C T snp 3324.77 1/1 99 116 0 116 1.0 intronic rs8009346 NEMF AU NM_004713 exon3 c.500+35C>T 0.958067 1 0.961710 0.9893 1 Uncertain 14_50262548_T->G 14 50262548 50262548 T G snp 2589.77 0/1 99 250 131 119 0.48 exonic rs142838359 NEMF AU nonsynonymous SNV NM_001301732 exon25 c.A2517C p.K839N 0.000998403 0.001 0.0020 0.0062 0.29 T 0.818 D -0.928 T 0.879 T 0.426 P Pathogenic 14_50266095_G->A 14 50266095 50266095 G A snp 54.74 1/1 6 2 0 2 1.0 intronic rs35690553 NEMF AU NM_004713 exon9 c.14839-97G>A 0.937899 0.9851 Uncertain 14_50280577_T->C 14 50280577 50280577 T C snp 96.28 1/1 9 3 0 3 1.0 intronic rs3126194 NEMF AU NM_004713 exon16 c.29352-128T>C 0.994209 1 Uncertain 14_50280688_T->A 14 50280688 50280688 T A snp 711.77 1/1 51 28 0 28 1.0 intronic rs3126195 NEMF AU NM_004713 exon16 c.29352-17T>A 0.932308 0.9851 0.932231 0.9802 0.9837 Uncertain 14_50298154_T->- 14 50298154 50298154 T - indel 239.74 1/1 27 16 0 16 1.0 intronic rs11365862 NEMF AU NM_004713 exon23 c.46726+75delT Uncertain 14_50298962_T->A 14 50298962 50298962 T A snp 1812.77 1/1 99 73 0 73 1.0 exonic rs3100906 NEMF AU nonsynonymous SNV NM_001301732 exon9 c.A769T p.S257C 0.927316 0.9851 0.927572 0.9782 0.9837 0.1 T 1.0 P -1.076 T 0.999 D 0.976 D Pathogenic 14_50299052_T->- 14 50299052 50299052 T - indel 124.86 1/1 2 18 1 17 0.94 intronic rs398077749 NEMF AU NM_004713 exon25 c.47642+57delT 0.872604 0.8581 Uncertain 14_50300310_A->G 14 50300310 50300310 A G snp 787.77 1/1 57 27 0 27 1.0 intronic rs3100904 NEMF AU NM_004713 exon26 c.48861+96A>G 0.960064 1 Uncertain 14_50319327_T->C 14 50319327 50319327 T C snp 5210.77 1/1 99 191 0 191 1.0 intronic rs3126160 NEMF AU NM_004713 exon33 c.68059-85T>C 0.994409 1 Uncertain 14_50319499_G->T 14 50319499 50319499 G T snp 3676.77 1/1 99 134 0 134 1.0 UTR5 rs3100887 NEMF AU 0.959665 1 0.963402 0.9899 1 Uncertain 14_50459609_T->C 14 50459609 50459609 T C snp 1519.77 0/1 99 110 44 66 0.6 ncRNA_intronic rs10134002 LINC01588 AU 0.540335 0.3026 0.573678 0.5302 0.3021 Uncertain 14_50459673_T->C 14 50459673 50459673 T C snp 1257.77 1/1 90 46 0 46 1.0 ncRNA_intronic rs10134096 LINC01588 AU 0.71865 0.3671 Uncertain 14_50469596_T->C 14 50469596 50469596 T C snp 2608.77 0/1 99 247 131 116 0.47 ncRNA_exonic rs78843308 LINC01588 AU 0.0151757 0.0595 Uncertain 14_50474006_C->G 14 50474006 50474006 C G snp 849.77 0/1 99 72 35 37 0.51 ncRNA_exonic rs4898643 LINC01588 AU 0.144768 0.122 Uncertain 14_50477578_G->A 14 50477578 50477578 G A snp 142.77 0/1 99 15 9 6 0.4 ncRNA_intronic rs8012757 LOC100506499 AU 0.203874 0.1786 Uncertain 14_50477643_G->C 14 50477643 50477643 G C snp 1286.77 1/1 93 41 0 41 1.0 ncRNA_intronic rs4900978 LOC100506499 AU 1 1 1 1 Uncertain 14_50477811_C->T 14 50477811 50477811 C T snp 584.77 0/1 99 69 41 28 0.41 ncRNA_intronic rs12589730 LOC100506499 AU 0.226038 0.1786 Uncertain 14_50550242_C->T 14 50550242 50550242 C T snp 326.77 0/1 54 15 3 12 0.8 downstream rs2355666 C14orf183 AU 0.254792 0.4365 Uncertain 14_50555664_G->T 14 50555664 50555664 G T snp 146.03 1/1 12 6 0 6 1.0 intronic rs2883738 C14orf183 AU NM_001014830 exon3 c.5470-174G>T 0.886182 0.9028 Uncertain 14_50579481_C->- 14 50579481 50579481 C - indel 550.73 0/1 99 31 16 15 0.48 intronic rs79235752 VCPKMT AU NM_024558 exon2 c.3021+44delC 0.243411 0.4306 0.169280 0.1911 0.4643 Uncertain 14_50582321_G->A 14 50582321 50582321 G A snp 158.78 0/1 24 6 1 5 0.83 intronic rs12895760 VCPKMT AU NM_024558 exon4 c.6140-235G>A 0.242013 0.2202 Uncertain 14_50583083_G->T 14 50583083 50583083 G T snp 2499.77 0/1 99 201 97 104 0.52 exonic rs11157729 VCPKMT AU nonsynonymous SNV NM_001040662 exon1 c.C188A p.A63D 0.25 0.4603 0.170614 0.2166 0.4940 0.54 T 0.0 P -0.944 T 0.055 T 0.035 T Pathogenic 14_50585248_C->T 14 50585248 50585248 C T snp 1308.77 0/1 99 121 63 58 0.48 exonic rs2227276 SOS2 AD synonymous SNV NM_006939 exon23 c.G3813A p.P1271P 0.243211 0.4315 0.172074 0.1980 0.4443 Uncertain 14_50596862_T->C 14 50596862 50596862 T C snp 137.03 1/1 12 5 0 5 1.0 intronic rs3759597 SOS2 AD NM_006939 exon3 c.11659+142T>C 0.853834 0.9028 Uncertain 14_50605267_-->T 14 50605267 50605267 - T indel 73.73 0/1 99 30 19 11 0.37 intronic rs35961944 SOS2 AD NM_006939 exon6 c.20268-62insT 0.357228 0.2867 Uncertain 14_50611845_C->T 14 50611845 50611845 C T snp 1600.77 1/1 99 55 0 55 1.0 intronic rs2064667 SOS2 AD NM_006939 exon8 c.26826-42C>T 0.853435 0.9028 0.862706 0.8716 0.9261 Uncertain 14_50612401_T->C 14 50612401 50612401 T C snp 187.9 1/1 15 7 0 7 1.0 intronic rs1014879 SOS2 AD NM_006939 exon9 c.27253+87T>C 0.833866 0.9028 Uncertain 14_50612414_C->T 14 50612414 50612414 C T snp 57.74 1/1 6 3 0 3 1.0 intronic rs726797 SOS2 AD NM_006939 exon9 c.27253+100C>T 0.853435 0.9028 Uncertain 14_50616878_G->A 14 50616878 50616878 G A snp 2542.77 0/1 99 211 98 113 0.54 exonic rs2229869 SOS2 AD synonymous SNV NM_006939 exon14 c.C2232T p.N744N 0.518371 0.4276 0.607950 0.6215 0.4314 Uncertain 14_50619763_T->G 14 50619763 50619763 T G snp 431.77 0/1 99 36 18 18 0.5 intronic SOS2 AD NM_006939 exon11 c.34726-24T>G Uncertain 14_50619927_A->G 14 50619927 50619927 A G snp 819.77 0/1 99 63 29 34 0.54 intronic rs11628935 SOS2 AD NM_006939 exon11 c.34830+36A>G 0.247204 0.2192 0.313424 0.3359 0.1911 Uncertain 14_50623657_G->A 14 50623657 50623657 G A snp 538.77 1/1 39 20 0 20 1.0 intronic rs3736759 SOS2 AD NM_006939 exon12 c.38655-59G>A 0.448882 0.4802 0.7132 0.8276 Uncertain 14_50623679_G->A 14 50623679 50623679 G A snp 532.56 1/1 7 29 3 26 0.9 intronic rs3736760 SOS2 AD NM_006939 exon12 c.38655-37G>A 0.595248 0.5724 0.6527 0.7472 Uncertain 14_50626836_C->T 14 50626836 50626836 C T snp 730.77 1/1 54 21 0 21 1.0 intronic rs4900992 SOS2 AD NM_006939 exon14 c.41743+32C>T 0.853035 0.9018 0.862292 0.8716 0.9266 Uncertain 14_50641347_T->G 14 50641347 50641347 T G snp 3556.77 1/1 99 122 0 122 1.0 intronic rs10782418 SOS2 AD NM_006939 exon16 c.56209+77T>G 0.892572 0.8899 Uncertain 14_50649088_C->T 14 50649088 50649088 C T snp 607.77 0/1 99 36 12 24 0.67 intronic rs2024811 SOS2 AD NM_006939 exon18 c.64119-92C>T 0.328874 0.4653 Uncertain 14_50655147_TATT->- 14 50655147 50655150 TATT - indel 895.73 0/1 99 22 7 15 0.68 intronic rs139780957 SOS2 AD NM_006939 exon19 c.70153-67_70153-64delTATT Uncertain 14_50667526_G->A 14 50667526 50667526 G A snp 50.74 1/1 6 2 0 2 1.0 intronic rs6572648 SOS2 AD NM_006939 exon21 c.82609-144G>A 0.852037 0.8889 Uncertain 14_50670965_G->C 14 50670965 50670965 G C snp 1100.77 1/1 81 37 0 37 1.0 intronic rs1075537 SOS2 AD NM_006939 exon22 c.85940-36G>C 0.857827 0.8889 0.882249 0.8833 0.9203 Uncertain 14_50671133_A->G 14 50671133 50671133 A G snp 372.77 0/1 99 39 21 18 0.46 splicing rs12888783 SOS2 AD NM_006939 exon22 c.86066+6A>G 0.242013 0.2232 0.318756 0.3437 0.2184 Pathogenic 14_50697878_C->T 14 50697878 50697878 C T snp 842.77 0/1 99 86 46 40 0.47 intronic rs2273326 SOS2 AD NM_006939 exon23 c.112853-36C>T 0.275559 0.4315 0.193763 0.2747 0.4881 Uncertain 14_50704331_C->T 14 50704331 50704331 C T snp 4100.77 1/1 99 157 1 156 0.99 intergenic rs4901000 SOS2 AD 0.86861 0.8869 0.881326 0.8762 0.9201 1 T 0.605 P -0.908 T 0.0 T 0.0 T Uncertain 14_50732042_G->A 14 50732042 50732042 G A snp 3785.77 1/1 99 137 0 137 1.0 intronic rs12432673 L2HGDH AR NM_024884 exon2 c.18300-33G>A 0.417133 0.6359 0.359296 0.4377 0.6518 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000146248.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 14_50745123_-->TTACTT 14 50745123 50745123 - TTACTT indel 670.75 1/1 24 8 0 8 1.0 intronic rs10658363 L2HGDH AR NM_024884 exon5 c.31462-114insTTACTT 0.590056 0.6478 Uncertain 14_50750577_A->G 14 50750577 50750577 A G snp 2280.77 1/1 99 77 0 77 1.0 intronic rs12433038 L2HGDH AR NM_024884 exon6 c.36813-11A>G 0.504792 0.6399 0.499616 0.5396 0.6530 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000146252.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 14_50760030_C->T 14 50760030 50760030 C T snp 1195.77 0/1 99 80 32 48 0.6 intronic rs12894758 L2HGDH AR NM_024884 exon7 c.47057-802C>T 0.182508 0.1925 0.2868 0.1667 Uncertain 14_50769717_G->A 14 50769717 50769717 G A snp 5338.77 1/1 99 203 0 203 1.0 exonic rs2297995 L2HGDH AR synonymous SNV NM_024884 exon2 c.C159T p.I53I 0.596645 0.6468 0.574273 0.5701 0.6581 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000146249.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 14_50769868_G->A 14 50769868 50769868 G A snp 254.8 1/1 21 7 0 7 1.0 intronic rs1962578 L2HGDH AR NM_024884 exon9 c.55960+133G>A 0.433706 0.6359 Uncertain 14_50769901_A->G 14 50769901 50769901 A G snp 54.74 1/1 6 2 0 2 1.0 intronic rs1974327 L2HGDH AR NM_024884 exon9 c.55960+166A>G 0.594249 0.6468 Uncertain 14_50778816_A->C 14 50778816 50778816 A C snp 2040.77 1/1 99 80 0 80 1.0 exonic rs2275591 L2HGDH AR nonsynonymous SNV NM_024884 exon1 c.T53G p.L18R 0.572684 0.6171 0.563186 0.5999 0.6375 0.68 T 0.0 P -1.030 T 0.022 T 0.01 T CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000146250.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 14_50786004_A->G 14 50786004 50786004 A G snp 3878.77 1/1 99 141 0 141 1.0 intronic rs12433794 ATP5S AU NM_015684 exon2 c.8462-2196A>G 0.625799 0.7569 0.5787 0.7879 0.1 T 0.0 P -0.933 T 0.0 T 0.0 T Uncertain 14_50788213_C->T 14 50788213 50788213 C T snp 5281.77 1/1 99 197 1 196 0.99 exonic rs2275592 ATP5S AU nonsynonymous SNV NM_001003803 exon2 c.C53T p.P18L 0.56889 0.6171 0.559050 0.5700 0.6176 1 T 1.000 P -0.927 T 0.0 T 0.0 T Pathogenic 14_50789041_C->T 14 50789041 50789041 C T snp 99.28 1/1 9 3 0 3 1.0 intronic rs6572657 ATP5S AU NM_015684 exon3 c.9490-187C>T 0.570687 0.6171 Uncertain 14_50789079_T->- 14 50789079 50789079 T - indel 169.94 1/1 13 8 1 7 0.88 intronic rs11357954 ATP5S AU NM_015684 exon3 c.9490-149delT 0.570088 0.6171 Uncertain 14_50789101_-->ATAC 14 50789101 50789101 - ATAC indel 950.73 1/1 42 14 0 14 1.0 intronic rs10685266 ATP5S AU NM_015684 exon3 c.9490-127insATAC Uncertain 14_50789578_G->C 14 50789578 50789578 G C snp 176.9 1/1 15 5 0 5 1.0 UTR3 rs8017316 ATP5S AU 0.548922 0.6171 Uncertain 14_50792273_A->G 14 50792273 50792273 A G snp 836.78 1/1 27 30 1 29 0.97 intronic rs8003113 ATP5S AU NM_001003805 exon4 c.12588-53A>G 0.570687 0.6171 0.565732 Uncertain 14_50798665_C->T 14 50798665 50798665 C T snp 261.8 1/1 21 7 0 7 1.0 UTR3 rs4901015 CDKL1 AU 0.564497 0.6181 Uncertain 14_50798743_G->A 14 50798743 50798743 G A snp 1104.77 1/1 81 33 0 33 1.0 UTR3 rs4901016 CDKL1 AU 0.564497 0.6181 0.5922 0.6453 0.4 T 0.0 P -0.934 T 0.0 T 0.001 T Uncertain 14_50799126_G->C 14 50799126 50799126 G C snp 5203.77 1/1 99 186 0 186 1.0 exonic rs7161563 CDKL1 AU nonsynonymous SNV NM_004196 exon8 c.C823G p.Q275E 0.581869 0.6181 0.571352 0.5754 0.6189 0.61 T 1.000 P -0.931 T 0.0 T 0.001 T Pathogenic 14_50799338_T->C 14 50799338 50799338 T C snp 1693.77 1/1 99 58 0 58 1.0 UTR3 rs7141289 CDKL1 AU 0.58147 0.619 0.5700 0.6554 Uncertain 14_50801102_G->A 14 50801102 50801102 G A snp 1422.77 1/1 99 51 0 51 1.0 intronic rs7141402 CDKL1 AU NM_004196 exon3 c.4491-180G>A 0.579073 0.6161 Uncertain 14_50802727_A->C 14 50802727 50802727 A C snp 4098.77 1/1 99 150 0 150 1.0 intronic rs7148089 CDKL1 AU NM_004196 exon3 c.4548+1388A>C 0.554313 0.619 0.537321 0.5670 0.6228 Uncertain 14_50802840_A->G 14 50802840 50802840 A G snp 4362.77 1/1 99 161 0 161 1.0 intronic rs7148292 CDKL1 AU NM_004196 exon3 c.4548+1501A>G 0.553115 0.619 0.538716 0.5685 0.6233 Uncertain 14_50808802_G->T 14 50808802 50808802 G T snp 1019.77 1/1 72 40 0 40 1.0 intronic rs7142237 CDKL1 AU NM_004196 exon6 c.12058-47G>T 0.698482 0.7937 0.716823 0.6960 0.8155 Uncertain 14_50809895_G->C 14 50809895 50809895 G C snp 54.74 1/1 6 2 0 2 1.0 intronic rs2226054 CDKL1 AU NM_004196 exon6 c.12149+955G>C 0.699481 0.7946 Uncertain 14_50824839_G->A 14 50824839 50824839 G A snp 810.77 0/1 99 75 39 36 0.48 intronic rs11157737 CDKL1 AU NM_004196 exon8 c.28954-906G>A 0.655152 0.6121 0.699860 0.6740 0.6757 Uncertain 14_50824954_T->C 14 50824954 50824954 T C snp 769.77 0/1 99 77 44 33 0.43 intronic rs11157738 CDKL1 AU NM_004196 exon8 c.28954-791T>C 0.609625 0.6101 Uncertain 14_50825033_T->C 14 50825033 50825033 T C snp 507.77 1/1 39 17 0 17 1.0 intronic rs11570816 CDKL1 AU NM_004196 exon8 c.28954-712T>C 0.769569 0.7937 Uncertain 14_50828838_A->G 14 50828838 50828838 A G snp 54.74 1/1 6 2 0 2 1.0 intronic rs10137638 CDKL1 AU NM_004196 exon8 c.29076+2971A>G 0.769968 0.7937 Uncertain 14_50844367_-->A 14 50844367 50844367 - A indel 2551.73 1/1 99 61 0 61 1.0 intronic rs397771066 CDKL1 AU NM_004196 exon9 c.65627-18051insA 0.752995 0.7927 0.791922 0.7384 0.8165 Uncertain 14_50844856_A->G 14 50844856 50844856 A G snp 1445.77 1/1 99 44 0 44 1.0 intronic rs1890978 CDKL1 AU NM_004196 exon9 c.65627-17562A>G 0.753195 0.7927 0.782176 0.7369 0.8172 Uncertain 14_50845231_C->A 14 50845231 50845231 C A snp 476.77 1/1 36 13 0 13 1.0 intronic rs7151046 CDKL1 AU NM_004196 exon9 c.65627-17187C>A 0.508586 0.7411 Uncertain 14_50857189_C->A 14 50857189 50857189 C A snp 444.77 0/1 99 46 24 22 0.48 intronic rs2015870 CDKL1 AU NM_004196 exon9 c.65627-5229C>A 0.251198 0.3889 0.2295 0.4249 Uncertain 14_50857290_C->T 14 50857290 50857290 C T snp 222.84 1/1 18 6 0 6 1.0 intronic rs2015860 CDKL1 AU NM_004196 exon9 c.65627-5128C>T Uncertain 14_50863716_C->G 14 50863716 50863716 C G snp 372.77 1/1 30 12 0 12 1.0 intronic rs10136595 CDKL1 AU NM_001282236 exon9 c.64558-219C>G 0.700679 0.7103 Uncertain 14_50877491_C->A 14 50877491 50877491 C A snp 397.77 1/1 30 15 0 15 1.0 intergenic rs1265878 CDKL1 AU 0.951078 1 Uncertain 14_50929508_C->A 14 50929508 50929508 C A snp 5353.77 1/1 99 188 0 188 1.0 intronic rs11624731 MAP4K5 AU NM_198794 exon20 c.42763+9C>A 0.99401 1 0.993112 0.9980 1 Uncertain 14_50942047_C->T 14 50942047 50942047 C T snp 57.74 1/1 6 3 0 3 1.0 intronic rs12717408 MAP4K5 AU NM_198794 exon24 c.55131+180C>T 0.882388 0.999 Uncertain 14_50949197_A->- 14 50949197 50949197 A - indel 805.73 1/1 75 30 0 30 1.0 intronic rs11364906 MAP4K5 AU NM_198794 exon27 c.62398+63delA 0.99401 1 0.990649 Uncertain 14_50971446_C->T 14 50971446 50971446 C T snp 1735.77 1/1 99 68 0 68 1.0 intronic rs7146431 MAP4K5 AU NM_198794 exon30 c.84781-71C>T 0.984625 1 0.985107 Uncertain 14_51057727_G->A 14 51057727 51057727 G A snp 5536.77 1/1 99 210 0 210 1.0 exonic rs1060197 ATL1 AD synonymous SNV NM_015915 exon3 c.G351A p.E117E 0.821486 0.7887 0.795863 0.7633 0.8206 CLINSIG=non-pathogenic|probable-non-pathogenic;CLNDBN=Spastic_paraplegia_3|not_specified;CLNREVSTAT=no_assertion_criteria_provided|no_assertion_criteria_provided;CLNACC=RCV000020720.1|RCV000116420.2;CLNDSDB=GeneReviews:MedGen:OMIM|MedGen;CLNDSDBID=NBK45978:C2931355:182600|CN169374 Uncertain 14_51058234_G->T 14 51058234 51058234 G T snp 5464.77 1/1 99 194 1 193 0.99 intronic rs2934684 ATL1 AD NM_015915 exon4 c.31269-18G>T 0.821286 0.7887 0.795018 0.7633 0.8205 Uncertain 14_51060452_A->G 14 51060452 51060452 A G snp 354.78 1/1 27 10 0 10 1.0 intronic rs2291672 ATL1 AD NM_015915 exon5 c.33580-111A>G 0.821685 0.7887 Uncertain 14_51062162_G->A 14 51062162 51062162 G A snp 264.8 1/1 21 7 0 7 1.0 intronic rs3015455 ATL1 AD NM_015915 exon6 c.35310-131G>A 0.807308 0.7877 Uncertain 14_51062237_TCTC->- 14 51062237 51062240 TCTC - indel 3503.73 ./1 99 88 1 87 0.99 intronic rs113092899 ATL1 AD NM_015915 exon6 c.35310-56_35310-53delTCTC 0.0850639 0.0575 Uncertain 14_51062237_TC->- 14 51062237 51062238 TC - indel 3503.73 ./1 99 88 1 87 0.99 intronic rs34166800 ATL1 AD NM_015915 exon6 c.35310-56_35310-55delTC 0.729233 0.747 Uncertain 14_51062455_G->A 14 51062455 51062455 G A snp 2311.77 1/1 99 75 0 75 1.0 intronic rs10131107 ATL1 AD NM_015915 exon6 c.35367+105G>A 0.540735 0.7212 Uncertain 14_51087263_A->G 14 51087263 51087263 A G snp 734.77 1/1 57 21 0 21 1.0 intronic rs11157759 ATL1 AD NM_015915 exon9 c.60333-53A>G 0.503994 0.7222 Uncertain 14_51089727_G->T 14 51089727 51089727 G T snp 135.03 1/1 12 4 0 4 1.0 intronic rs3736307 ATL1 AD NM_015915 exon11 c.62911-167G>T 0.690495 0.7847 Uncertain 14_51096610_-->TTCTT 14 51096610 51096610 - TTCTT indel 3075.73 1/1 99 39 0 39 1.0 intronic rs3080579 ATL1 AD NM_015915 exon13 c.68244+1383insTTCTT 0.573083 0.6319 Uncertain 14_51097536_G->A 14 51097536 51097536 G A snp 812.77 1/1 60 27 0 27 1.0 intronic rs2934692 ATL1 AD NM_015915 exon14 c.71961-1408G>A 1 1 Uncertain 14_51107452_T->C 14 51107452 51107452 T C snp 2269.77 1/1 99 79 0 79 1.0 intronic rs871643 SAV1 AU NM_021818 exon2 c.5567-15T>C 0.771965 0.7907 0.754113 0.7434 0.8204 Uncertain 14_51107737_G->A 14 51107737 51107737 G A snp 176.9 1/1 15 6 0 6 1.0 intronic rs4075253 SAV1 AU NM_021818 exon2 c.5711+126G>A 0.549321 0.7212 Uncertain 14_51196142_T->C 14 51196142 51196142 T C snp 376.77 1/1 30 12 0 12 1.0 intronic rs2984274 NIN AR NM_016350 exon2 c.3651-98T>C 0.944888 1 Uncertain 14_51202311_G->C 14 51202311 51202311 G C snp 3079.77 1/1 99 104 0 104 1.0 exonic rs2295847 NIN AR nonsynonymous SNV NM_020921 exon28 c.C5800G p.Q1934E 0.193291 0.5228 0.079372 0.1494 0.5134 0.44 T 0.000 P -0.901 T 0.209 T 0.118 T CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000117814.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 14_51206021_A->G 14 51206021 51206021 A G snp 4628.77 1/1 99 168 0 168 1.0 splicing rs3015485 NIN AR NM_016350 exon5 c.13436-4A>G 0.992612 1 0.991312 0.9976 1 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000117812.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 14_51208236_-->GTA 14 51208236 51208236 - GTA indel 3348.73 1/1 99 56 0 56 1.0 intronic rs56752844 NIN AR NM_016350 exon6 c.15710-63insGTA 0.992812 1 Uncertain 14_51210405_G->A 14 51210405 51210405 G A snp 208.84 1/1 18 6 0 6 1.0 intronic rs3742327 NIN AR NM_016350 exon7 c.17658+158G>A 0.771765 0.7034 Uncertain 14_51219349_G->A 14 51219349 51219349 G A snp 2823.77 0/1 99 229 112 117 0.51 exonic rs61755995 NIN AR nonsynonymous SNV NM_020921 exon21 c.C4837T p.R1613C 0.0321486 0.1349 0.000461 0.0118 0.1276 0.06 T 0.992 P -1.078 T 1.0 D 0.948 D CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000117807.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 14_51223106_G->T 14 51223106 51223106 G T snp 731.77 1/1 54 23 0 23 1.0 intronic rs2295846 NIN AR NM_182944 exon13 c.28803-103G>T 0.381789 0.504 Uncertain 14_51223789_C->T 14 51223789 51223789 C T snp 7051.77 1/1 99 250 2 248 0.99 exonic rs2073347 NIN AR nonsynonymous SNV NM_020921 exon18 c.G3959A p.G1320E 0.764377 0.6806 0.792250 0.7454 0.6682 1 T 0.000 P -0.997 T 0.0 T 0.001 T Pathogenic 14_51224374_T->G 14 51224374 51224374 T G snp 6549.77 1/1 99 227 0 227 1.0 exonic rs12882191 NIN AR nonsynonymous SNV NM_020921 exon18 c.A3374C p.Q1125P 0.784944 0.6954 0.807627 0.7533 0.6809 0.85 T 0.0 P -1.024 T 0.0 T 0.0 T Pathogenic 14_51224658_T->A 14 51224658 51224658 T A snp 5165.77 1/1 99 170 0 170 1.0 exonic rs2073348 NIN AR synonymous SNV NM_020921 exon18 c.A3090T p.S1030S 0.320887 0.503 0.275104 0.3248 0.5080 0.0 P -0.927 T CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000117802.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Likely benign 14_51225132_G->T 14 51225132 51225132 G T snp 3414.77 1/1 99 121 0 121 1.0 exonic rs2073349 NIN AR synonymous SNV NM_020921 exon18 c.C2616A p.A872A 0.38758 0.5099 0.341073 0.3775 0.5120 1.000 P -0.886 T CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000117798.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Likely benign 14_51226439_C->G 14 51226439 51226439 C G snp 178.9 1/1 15 6 0 6 1.0 intronic rs12892462 NIN AR NM_016350 exon13 c.33985-135C>G 0.34365 0.5228 Uncertain 14_51228682_G->A 14 51228682 51228682 G A snp 923.77 1/1 69 26 0 26 1.0 intronic rs6572694 NIN AR NM_016350 exon14 c.36040+53G>A 0.762181 0.6696 Uncertain 14_51230432_TT->- 14 51230432 51230433 TT - indel 758.73 1/1 54 26 2 24 0.92 intronic rs150650334 NIN AR NM_016350 exon15 c.37954-111_37954-110delTT 0.527556 0.8065 Uncertain 14_51237701_A->G 14 51237701 51237701 A G snp 3867.77 1/1 99 141 0 141 1.0 exonic rs17793018 NIN AR synonymous SNV NM_020921 exon11 c.T1128C p.V376V 0.577276 0.8403 0.503306 0.6207 0.8503 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000117795.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 14_51239067_C->G 14 51239067 51239067 C G snp 4631.77 1/1 99 177 0 177 1.0 exonic rs8020503 NIN AR synonymous SNV NM_020921 exon9 c.G933C p.L311L 0.992412 1 0.990697 0.9973 1 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000117819.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 14_51245666_T->C 14 51245666 51245666 T C snp 1705.77 1/1 99 54 0 54 1.0 intronic rs7143959 NIN AR NM_016350 exon24 c.52933+144T>C 0.538738 0.8204 Uncertain 14_51289873_GG->- 14 51289873 51289874 GG - indel 1464.92 1/1 5 64 23 41 0.64 intronic NIN AR NM_016350 exon27 c.96206+1078_96206+1079delGG 0.0802716 0.0952 0.1109 0.1089 Uncertain 14_51290141_A->G 14 51290141 51290141 A G snp 2421.77 1/1 99 81 0 81 1.0 intronic rs9672090 NIN AR NM_016350 exon27 c.96206+1346A>G 0.951877 0.997 Uncertain 14_51324755_C->A 14 51324755 51324755 C A snp 2769.77 0/1 99 191 72 119 0.62 intergenic rs75814853 NIN AR 0.034345 0.1558 Uncertain 14_51338875_A->C 14 51338875 51338875 A C snp 527.77 1/1 39 23 0 23 1.0 upstream rs11850408 ABHD12B AU 0.921126 0.9901 0.8991 0.9737 Uncertain 14_51344584_-->AAA 14 51344584 51344584 - AAA indel 672.73 1/1 45 15 0 15 1.0 intronic rs10672040 ABHD12B AU NM_001206673 exon2 c.5777-85insAAA Uncertain 14_51347023_T->C 14 51347023 51347023 T C snp 99.28 1/1 9 3 0 3 1.0 intronic rs12889998 ABHD12B AU NM_181814 exon2 c.8277-146T>C 0.816294 0.8363 Uncertain 14_51347107_G->A 14 51347107 51347107 G A snp 991.77 1/1 72 29 0 29 1.0 intronic rs2185300 ABHD12B AU NM_181814 exon2 c.8277-62G>A 0.982228 1 Uncertain 14_51348281_-->TT 14 51348281 51348281 - TT indel 100.87 1/1 15 12 0 12 1.0 intronic rs34965747 ABHD12B AU NM_181814 exon3 c.9421-32insTT 0.4595 0.4111 Uncertain 14_51353493_T->C 14 51353493 51353493 T C snp 221.84 1/1 18 9 0 9 1.0 intronic rs7158183 ABHD12B AU NM_181814 exon6 c.14510+91T>C 0.967851 1 Uncertain 14_51355517_C->A 14 51355517 51355517 C A snp 1782.77 0/1 99 118 45 73 0.62 intronic rs10144606 ABHD12B AU NM_181814 exon7 c.16649-24C>A 0.626797 0.4365 0.663309 0.6619 0.4340 Uncertain 14_51368495_G->A 14 51368495 51368495 G A snp 143.03 1/1 12 5 0 5 1.0 intronic rs17123103 ABHD12B AU NM_181814 exon8 c.29654-51G>A 0.284545 0.4573 0.165028 Uncertain 14_51368610_A->G 14 51368610 51368610 A G snp 1442.77 1/1 99 55 0 55 1.0 exonic rs28564871 ABHD12B AU nonsynonymous SNV NM_181814 exon8 c.A613G p.I205V 0.283746 0.4573 0.177720 0.2462 0.4429 0.71 T 0.0 P -0.910 T 0.0 T 0.001 T ID=COSM33040;OCCURENCE=1(breast),1(large_intestine) Pathogenic 14_51368756_T->A 14 51368756 51368756 T A snp 1089.77 1/1 78 37 0 37 1.0 intronic rs28485307 ABHD12B AU NM_181814 exon8 c.29737+127T>A 0.283746 0.4573 Uncertain 14_51370784_G->C 14 51370784 51370784 G C snp 5569.77 1/1 99 203 0 203 1.0 intronic rs4901064 ABHD12B AU NM_181814 exon10 c.31899-7G>C 0.283746 0.4573 0.178379 0.2481 0.4435 Uncertain 14_51371121_C->T 14 51371121 51371121 C T snp 2859.77 1/1 99 107 0 107 1.0 UTR3 rs4901065 ABHD12B AU 0.283746 0.4573 0.178225 0.2442 0.4428 Uncertain 14_51371130_C->T 14 51371130 51371130 C T snp 2672.77 1/1 99 100 0 100 1.0 UTR3 rs11157780 ABHD12B AU 0.250799 0.4573 0.150161 0.2358 0.4426 Uncertain 14_51371150_C->T 14 51371150 51371150 C T snp 2000.77 1/1 99 72 0 72 1.0 UTR3 rs11157781 ABHD12B AU 0.283746 0.4573 0.169514 Uncertain 14_51372099_A->- 14 51372099 51372099 A - indel 3938.73 1/1 99 98 2 96 0.98 UTR3 rs3216001 PYGL AR 0.458866 0.6171 0.3614 0.6070 Uncertain 14_51372103_C->G 14 51372103 51372103 C G snp 3064.77 1/1 99 105 2 103 0.98 UTR3 rs1042266 PYGL AR 0.250998 0.4573 0.150085 0.2357 0.4420 Uncertain 14_51372333_A->G 14 51372333 51372333 A G snp 4160.77 1/1 99 152 1 151 0.99 intronic rs1959527 PYGL AR NM_001163940 exon1 c.165+59A>G 0.353634 0.5516 Uncertain 14_51375699_-->A 14 51375699 51375699 - A indel 3334.73 1/1 99 110 0 110 1.0 intronic rs11414268 PYGL AR NM_001163940 exon3 c.3564+26insA 0.438498 0.5665 0.333147 0.3484 0.5498 Uncertain 14_51375797_T->G 14 51375797 51375797 T G snp 973.77 1/1 72 29 0 29 1.0 intronic rs8004768 PYGL AR NM_001163940 exon3 c.3564+124T>G 0.462061 0.6151 Uncertain 14_51375826_T->C 14 51375826 51375826 T C snp 478.77 1/1 36 14 0 14 1.0 intronic rs8004788 PYGL AR NM_001163940 exon3 c.3564+153T>C 0.424121 0.5665 Uncertain 14_51378591_T->- 14 51378591 51378591 T - indel 7991.73 1/1 99 205 0 205 1.0 splicing rs11356035 PYGL AR NM_001163940 exon5 c.6480+2delT 0.551917 0.63 0.443610 0.4379 0.6155 Pathogenic 14_51381286_T->C 14 51381286 51381286 T C snp 534.77 1/1 39 21 0 21 1.0 intronic rs4901066 PYGL AR NM_001163940 exon9 c.9309-132T>C 0.548522 0.63 Uncertain 14_51381950_T->A 14 51381950 51381950 T A snp 254.8 1/1 21 7 0 7 1.0 intronic rs2075646 PYGL AR NM_001163940 exon10 c.9944-103T>A 0.235423 0.4365 Uncertain 14_51382358_T->C 14 51382358 51382358 T C snp 960.77 1/1 72 26 0 26 1.0 intronic rs1890701 PYGL AR NM_001163940 exon10 c.10108+141T>C 0.998802 1 Uncertain 14_51382405_T->C 14 51382405 51382405 T C snp 305.78 1/1 24 9 0 9 1.0 intronic rs1890700 PYGL AR NM_001163940 exon11 c.10433-137T>C 0.548522 0.63 Uncertain 14_51383183_T->A 14 51383183 51383183 T A snp 83.77 0/1 59 5 2 3 0.6 intronic PYGL AR NM_001163940 exon12 c.11250-176T>A Uncertain 14_51383432_G->A 14 51383432 51383432 G A snp 2020.77 1/1 99 75 0 75 1.0 exonic rs2075643 PYGL AR synonymous SNV NM_002863 exon9 c.C1020T p.D340D 0.235423 0.4365 0.138167 0.2253 0.4290 Uncertain 14_51402055_G->A 14 51402055 51402055 G A snp 232.84 0/1 18 8 1 7 0.88 intronic rs3818871 PYGL AR NM_001163940 exon18 c.29794+152G>A 0.350639 0.5446 Uncertain 14_51446216_T->G 14 51446216 51446216 T G snp 3823.77 1/1 99 138 0 138 1.0 exonic rs2275462 TRIM9 AU nonsynonymous SNV NM_015163 exon9 c.A1959C p.L653F 0.589856 0.6925 0.524912 0.6074 0.7035 0.66 T 1.0 P -0.904 T 0.058 T 0.105 T Pathogenic 14_51449646_A->C 14 51449646 51449646 A C snp 2425.77 0/1 99 247 144 103 0.42 intronic rs146132543 TRIM9 AU NM_015163 exon3 c.4813+825A>C 0.00119808 0.006 6.023e-05 0.0021 Uncertain 14_51449906_G->C 14 51449906 51449906 G C snp 90.28 1/1 9 3 0 3 1.0 intronic rs10873039 TRIM9 AU NM_015163 exon3 c.4813+1085G>C 0.847244 0.7202 Uncertain 14_51465051_T->C 14 51465051 51465051 T C snp 133.03 1/1 12 4 0 4 1.0 intronic rs34153026 TRIM9 AU NM_052978 exon1 c.189+145T>C 0.339657 0.4147 Uncertain 14_51475794_A->T 14 51475794 51475794 A T snp 1471.77 1/1 67 58 2 56 0.97 splicing rs2297889 TRIM9 AU NM_052978 exon3 c.11080-3A>T 0.705471 0.6567 0.739736 0.7223 0.6488 Pathogenic 14_51491956_T->C 14 51491956 51491956 T C snp 4194.77 1/1 99 150 0 150 1.0 intronic rs11848681 TRIM9 AU NM_052978 exon6 c.27265-26T>C 0.453275 0.5962 0.375673 0.4302 0.5859 Uncertain 14_51492135_-->CACACAGGTGTTTT 14 51492135 51492135 - CACACAGGTGTTTT indel 11500.7 1/1 99 77 0 77 1.0 intronic rs11268748 TRIM9 AU NM_052978 exon6 c.27361+57insCACACAGGTGTTTT 0.808906 0.6905 Uncertain 14_51710508_-->A 14 51710508 51710508 - A indel 648.73 0/1 99 31 12 19 0.61 intronic rs35110538 TMX1 AU NM_030755 exon2 c.3563-65insA 0.782947 0.9256 Uncertain 14_51710543_-->T 14 51710543 51710543 - T indel 805.73 0/1 99 55 23 32 0.58 intronic rs143191476 TMX1 AU NM_030755 exon2 c.3563-30insT 0.369117 0.1308 0.2897 Uncertain 14_51716188_T->G 14 51716188 51716188 T G snp 593.77 0/1 99 66 39 27 0.41 exonic rs7161242 TMX1 AU synonymous SNV NM_030755 exon6 c.T492G p.T164T 0.679712 0.6349 0.736511 0.7322 0.6763 Uncertain 14_51716467_G->A 14 51716467 51716467 G A snp 452.77 0/1 99 31 14 17 0.55 exonic rs7160810 TMX1 AU synonymous SNV NM_030755 exon7 c.G648A p.P216P 0.711062 0.6349 0.763592 0.7430 0.6773 Uncertain 14_51720906_T->G 14 51720906 51720906 T G snp 40.77 0/1 69 5 3 2 0.4 intronic rs11157811 TMX1 AU NM_030755 exon8 c.14048-152T>G 0.712061 0.6409 Uncertain 14_52165083_T->G 14 52165083 52165083 T G snp 339.77 0/1 99 19 8 11 0.58 intronic rs6572784 FRMD6 AU NM_152330 exon3 c.8396+133T>G 0.57528 0.628 Uncertain 14_52165126_A->G 14 52165126 52165126 A G snp 44.77 0/1 33 3 1 2 0.67 intronic rs6572785 FRMD6 AU NM_152330 exon3 c.8396+176A>G 0.612819 0.6419 Uncertain 14_52169091_G->A 14 52169091 52169091 G A snp 116.77 0/1 64 6 2 4 0.67 intronic rs10140556 FRMD6 AU NM_152330 exon5 c.12675-138G>A 0.346046 0.3542 Uncertain 14_52179451_T->G 14 52179451 52179451 T G snp 74.77 0/1 99 7 4 3 0.43 intronic rs10873052 FRMD6 AU NM_152330 exon9 c.22715+182T>G 0.679513 0.6429 Uncertain 14_52182081_T->A 14 52182081 52182081 T A snp 2682.77 0/1 99 204 83 121 0.59 exonic rs731715 FRMD6 AU synonymous SNV NM_001042481 exon11 c.T864A p.S288S 0.669529 0.628 0.700753 0.6817 0.6418 Uncertain 14_52186972_A->G 14 52186972 52186972 A G snp 2687.77 0/1 99 250 138 112 0.45 exonic rs2277494 FRMD6 AU synonymous SNV NM_001042481 exon12 c.A1200G p.P400P 0.337859 0.3552 0.270183 0.2696 0.3345 Uncertain 14_52194407_G->A 14 52194407 52194407 G A snp 1798.77 0/1 99 168 90 78 0.46 intronic rs4433726 FRMD6 AU NM_152330 exon14 c.37908-55G>A 0.334465 0.3581 Uncertain 14_52294397_G->A 14 52294397 52294397 G A snp 149.77 0/1 99 16 9 7 0.44 intergenic rs6572795 FRMD6 AU 0.720048 0.5327 Uncertain 14_52383229_A->- 14 52383229 52383229 A - indel 651.73 0/1 99 66 25 41 0.62 ncRNA_splicing rs11322270 LOC102723604 AU 0.554313 0.4444 0.5043 0.5082 Uncertain 14_52384014_G->A 14 52384014 52384014 G A snp 1417.77 0/1 99 159 95 64 0.4 ncRNA_intronic rs1693198 LOC102723604 AU 0.138379 0.3185 0.0874 0.3284 Uncertain 14_52384093_G->C 14 52384093 52384093 G C snp 2182.77 0/1 99 226 126 100 0.44 ncRNA_exonic rs2275459 LOC102723604 AU 0.133986 0.3185 0.0858 0.3209 0.000 P -0.968 T Uncertain 14_52471017_-->AAAT 14 52471017 52471017 - AAAT indel 2315.73 0/1 99 96 54 42 0.44 intronic rs34688526 C14orf166 AU NM_016039 exon7 c.14603+57insAAAT 0.491613 0.5635 0.428377 Uncertain 14_52477835_G->A 14 52477835 52477835 G A snp 392.77 0/1 99 41 24 17 0.41 intronic rs1151579 NID2 AU NM_007361 exon5 c.5562+70G>A 0.324081 0.5893 Uncertain 14_52494072_G->A 14 52494072 52494072 G A snp 1732.77 0/1 99 151 81 70 0.46 intronic rs2273429 NID2 AU NM_007361 exon11 c.21859+10G>A 0.289936 0.5516 0.146086 0.2049 0.5317 Uncertain 14_52495375_C->T 14 52495375 52495375 C T snp 4383.77 1/1 99 165 0 165 1.0 intronic rs7144352 NID2 AU NM_007361 exon12 c.23236-64C>T 0.96845 0.9692 Uncertain 14_52496091_A->C 14 52496091 52496091 A C snp 136.03 1/1 12 4 0 4 1.0 intronic rs1497087 NID2 AU NM_007361 exon13 c.24061-173A>C 0.989617 1 Uncertain 14_52496387_C->A 14 52496387 52496387 C A snp 1995.77 1/1 99 65 0 65 1.0 exonic rs2273430 NID2 AU nonsynonymous SNV NM_007361 exon10 c.G2279T p.G760V 0.91893 0.9683 0.931878 0.9742 0.9779 0.3 T 0.861 P -0.903 T 0.0 T 0.0 T Pathogenic 14_52496407_C->T 14 52496407 52496407 C T snp 1677.77 1/1 99 58 0 58 1.0 exonic rs2273431 NID2 AU synonymous SNV NM_007361 exon10 c.G2259A p.E753E 0.874002 0.9683 0.862217 0.9104 0.9776 0.000 P -1.074 T Likely benign 14_52505360_A->G 14 52505360 52505360 A G snp 1920.77 1/1 99 60 0 60 1.0 intronic rs753051 NID2 AU NM_007361 exon14 c.33261-104A>G 0.852236 0.8522 Uncertain 14_52505375_A->G 14 52505375 52505375 A G snp 2477.77 1/1 99 82 0 82 1.0 intronic rs753050 NID2 AU NM_007361 exon14 c.33261-89A>G 0.851837 0.8512 Uncertain 14_52505771_T->A 14 52505771 52505771 T A snp 720.77 1/1 54 24 0 24 1.0 intronic rs2029978 NID2 AU NM_007361 exon14 c.33492+76T>A 0.989417 1 Uncertain 14_52505772_T->G 14 52505772 52505772 T G snp 725.77 1/1 54 24 0 24 1.0 intronic rs2029977 NID2 AU NM_007361 exon14 c.33492+77T>G 0.989417 1 Uncertain 14_52505811_C->T 14 52505811 52505811 C T snp 308.78 1/1 24 11 0 11 1.0 intronic rs2029976 NID2 AU NM_007361 exon14 c.33492+116C>T 0.851438 0.8522 Uncertain 14_52507429_A->G 14 52507429 52507429 A G snp 2552.77 1/1 99 94 0 94 1.0 exonic rs3742536 NID2 AU nonsynonymous SNV NM_007361 exon8 c.T1966C p.S656P 0.858027 0.8522 0.808550 0.8104 0.8404 1 T 0.016 P -0.969 T 0.0 T 0.002 T Pathogenic 14_52509101_G->A 14 52509101 52509101 G A snp 3964.77 1/1 99 145 0 145 1.0 intronic rs1982963 NID2 AU NM_007361 exon16 c.36865+33G>A 0.853035 0.8542 0.803706 0.8074 0.8428 Uncertain 14_52509260_A->- 14 52509260 52509260 A - indel 179.87 1/1 15 5 0 5 1.0 intronic rs3841694 NID2 AU NM_007361 exon16 c.36865+192delA 0.852037 0.8542 Uncertain 14_52509483_T->C 14 52509483 52509483 T C snp 1859.77 1/1 99 65 0 65 1.0 intronic rs4898729 NID2 AU NM_007361 exon17 c.37296-16T>C 0.853435 0.8542 0.802630 0.8081 0.8413 Uncertain 14_52509484_G->A 14 52509484 52509484 G A snp 1859.77 1/1 99 64 0 64 1.0 intronic rs4901186 NID2 AU NM_007361 exon17 c.37296-15G>A 0.853035 0.8542 0.802860 0.8080 0.8412 Uncertain 14_52520368_C->T 14 52520368 52520368 C T snp 4273.77 1/1 99 155 0 155 1.0 exonic rs2101919 NID2 AU nonsynonymous SNV NM_007361 exon5 c.G1358A p.G453D 0.571086 0.4425 0.666539 0.6807 0.4797 0.57 T 0.0 P -1.012 T 0.006 T 0.009 T Pathogenic 14_52520853_A->G 14 52520853 52520853 A G snp 3899.77 1/1 99 140 0 140 1.0 exonic rs904059 NID2 AU synonymous SNV NM_007361 exon4 c.T954C p.Y318Y 0.980631 1 0.975780 0.9935 1 Uncertain 14_52534997_T->C 14 52534997 52534997 T C snp 901.77 1/1 69 26 0 26 1.0 intronic rs7151874 NID2 AU NM_007361 exon21 c.62678+116T>C 0.984425 1 Uncertain 14_52535387_A->C 14 52535387 52535387 A C snp 3469.77 1/1 99 113 0 113 1.0 intronic rs984051 NID2 AU NM_007361 exon22 c.63281-97A>C 0.942093 1 Uncertain 14_52535415_G->A 14 52535415 52535415 G A snp 4965.77 1/1 99 182 0 182 1.0 intronic rs984050 NID2 AU NM_007361 exon22 c.63281-69G>A 0.804313 0.999 Uncertain 14_52535648_G->T 14 52535648 52535648 G T snp 3843.77 1/1 99 118 0 118 1.0 exonic rs3920038 NID2 AU nonsynonymous SNV NM_007361 exon1 c.C65A p.P22Q 0.804313 0.999 0.743925 0.8594 0.9993 0.33 T 0.000 P -1.036 T 0.002 T 0.001 T Pathogenic 14_52536512_T->C 14 52536512 52536512 T C snp 6509.77 1/1 99 244 0 244 1.0 upstream rs1497082 NID2 AU 0.942093 1 0.9874 1 0.25 T -1.034 T Uncertain 14_52781195_G->A 14 52781195 52781195 G A snp 488.77 0/1 99 43 24 19 0.44 UTR5 rs1254598 PTGER2 AR 0.48103 0.372 Uncertain 14_52794234_T->C 14 52794234 52794234 T C snp 1948.77 1/1 99 61 0 61 1.0 UTR3 rs708502 PTGER2 AR 0.65655 0.5853 Uncertain 14_53098902_G->A 14 53098902 53098902 G A snp 5097.77 1/1 99 192 0 192 1.0 exonic rs762063 GPR137C AU nonsynonymous SNV NM_001099652 exon4 c.G742A p.V248I 0.41234 0.4157 0.454273 0.4967 0.4392 0.22 T 0.0 P -0.931 T 0.017 T 0.003 T Pathogenic 14_53100760_A->G 14 53100760 53100760 A G snp 1044.77 1/1 78 31 0 31 1.0 intronic rs11157925 GPR137C AU NM_001099652 exon6 c.80799+96A>G 0.579872 0.6498 Uncertain 14_53110384_T->C 14 53110384 53110384 T C snp 842.77 1/1 63 23 0 23 1.0 intronic rs4898762 ERO1L AU NM_014584 exon1 c.61+36T>C 0.410942 0.4167 0.436731 0.5285 0.4973 Uncertain 14_53112904_T->C 14 53112904 53112904 T C snp 729.77 0/1 99 61 27 34 0.56 exonic ERO1L AU synonymous SNV NM_014584 exon15 c.A1314G p.Q438Q Uncertain 14_53130507_T->C 14 53130507 53130507 T C snp 4352.77 1/1 99 160 2 158 0.99 intronic rs17125636 ERO1L AU NM_014584 exon9 c.20231-11T>C 0.38099 0.4137 0.399785 0.4532 0.4371 Uncertain 14_53133036_T->C 14 53133036 53133036 T C snp 1629.77 1/1 99 56 0 56 1.0 intronic rs12885338 ERO1L AU NM_014584 exon10 c.22805-56T>C 0.485823 0.6349 Uncertain 14_53174981_C->T 14 53174981 53174981 C T snp 293.77 0/1 99 19 9 10 0.53 intronic rs2295827 PSMC6 AU NM_002806 exon2 c.1131-45C>T 0.107827 0.1498 0.085730 0.0990 0.1419 Uncertain 14_53178303_C->A 14 53178303 53178303 C A snp 965.77 0/1 99 68 28 40 0.59 intronic rs10483616 PSMC6 AU NM_002806 exon6 c.4347+61C>A 0.0613019 0.1577 Uncertain 14_53178346_G->A 14 53178346 53178346 G A snp 334.77 0/1 99 36 21 15 0.42 intronic rs76219229 PSMC6 AU NM_002806 exon6 c.4347+104G>A 0.147364 0.1498 Uncertain 14_53194068_G->T 14 53194068 53194068 G T snp 131.77 0/1 99 12 6 6 0.5 intronic rs74620173 PSMC6 AU NM_002806 exon14 c.20321-148G>T 0.135383 0.1498 Uncertain 14_53197042_G->C 14 53197042 53197042 G C snp 205.77 0/1 60 10 2 8 0.8 UTR5 rs2277493 STYX AU 0.653954 0.6399 Uncertain 14_53235728_G->T 14 53235728 53235728 G T snp 574.77 0/1 99 34 12 22 0.65 intronic rs2274275 STYX AU NM_001130701 exon11 c.38459+77G>T 0.108626 0.1508 Uncertain 14_53245082_A->C 14 53245082 53245082 A C snp 46.77 0/1 75 7 4 3 0.43 exonic rs192453247 GNPNAT1 AU nonsynonymous SNV NM_198066 exon6 c.T502G p.F168V 0.000599042 0.003 0.0002 0.0023 0.35 T 1 D -1.084 T 0.01 T 0.1 T Pathogenic 14_53250296_A->T 14 53250296 53250296 A T snp 318.18 0/1 10 11 1 10 0.91 intronic rs79312783 GNPNAT1 AU NM_198066 exon4 c.5175+93A>T 0.125599 0.1508 Uncertain 14_53340681_T->C 14 53340681 53340681 T C snp 40.77 0/1 31 3 1 2 0.67 intronic rs191641107 FERMT2 AU NM_001134999 exon8 c.15800-213T>C 0.0179712 0.0397 Uncertain 14_53416942_G->A 14 53416942 53416942 G A snp 93.28 1/1 9 3 0 3 1.0 intronic rs4901320 FERMT2 AU NM_001134999 exon15 c.92035-187G>A 0.999401 1 Uncertain 14_53513479_AG->- 14 53513479 53513480 AG - indel 5440.73 1/1 99 114 0 114 1.0 UTR3 rs10599915 DDHD1 AR 0.858826 0.9782 0.854792 0.8627 0.9788 Uncertain 14_53518552_T->- 14 53518552 53518552 T - indel 1111.73 0/1 99 56 27 29 0.52 intronic rs78491021 DDHD1 AR NM_001160148 exon2 c.5076-9delT 0.198682 0.3304 0.151042 0.2558 0.4158 Uncertain 14_53522324_-->A 14 53522324 53522324 - A indel 2080.73 1/1 99 50 0 50 1.0 intronic rs397690043 DDHD1 AR NM_001160148 exon4 c.8892-53insA 0.901957 0.9831 Uncertain 14_53525392_C->T 14 53525392 53525392 C T snp 2050.77 1/1 99 65 0 65 1.0 intronic rs915436 DDHD1 AR NM_001160148 exon5 c.11859+48C>T 0.995208 1 0.992834 0.9982 1 Uncertain 14_53525427_C->T 14 53525427 53525427 C T snp 375.77 0/1 99 27 13 14 0.52 intronic rs12882412 DDHD1 AR NM_001160148 exon5 c.11859+83C>T 0.220248 0.3046 Uncertain 14_53529669_A->T 14 53529669 53529669 A T snp 6230.77 1/1 99 217 0 217 1.0 exonic rs4898778 DDHD1 AR synonymous SNV NM_001160147 exon8 c.T1779A p.T593T 0.817692 0.9812 0.768338 0.8471 0.9770 Uncertain 14_53539471_A->G 14 53539471 53539471 A G snp 1150.77 1/1 84 41 0 41 1.0 intronic rs875663 DDHD1 AR NM_001160148 exon8 c.25936+50A>G 0.755391 0.9673 0.708218 0.8340 0.9730 Uncertain 14_53619463_G->A 14 53619463 53619463 G A snp 2897.77 1/1 99 89 0 89 1.0 exonic rs2358188 DDHD1 AR synonymous SNV NM_001160147 exon1 c.C354T p.H118H 0.752196 0.9673 0.8455 0.9754 Uncertain 14_53619480_-->GCCGCC 14 53619480 53619480 - GCCGCC indel 5004.73 1/1 99 82 0 82 1.0 exonic rs140904345 DDHD1 AR nonframeshift insertion NM_001160147 exon1 c.336_337insGGCGGC p.S113delinsGGS 0.785343 0.9673 0.8421 0.9659 ID=COSM1370127,COSM956281;OCCURENCE=46(large_intestine),2(breast),2(endometrium) Uncertain 14_53619544_G->A 14 53619544 53619544 G A snp 3329.77 1/1 99 134 0 134 1.0 exonic rs2358189 DDHD1 AR synonymous SNV NM_001160147 exon1 c.C273T p.F91F 0.750399 0.9673 0.703832 0.8326 0.9739 Uncertain 14_54417522_A->G 14 54417522 54417522 A G snp 2393.77 1/1 99 84 0 84 1.0 exonic rs17563 BMP4 AU,AD nonsynonymous SNV NM_001202 exon4 c.T455C p.V152A 0.325679 0.2857 0.450023 0.4570 0.2717 0.28 T 0.999 P -0.920 T 0.002 T 0.007 T ID=CM096386;DIS=Cutaneous melanoma, susceptibility to, association with;TAG=DFP;PUB=19557432 DFP Pathogenic 14_54418986_T->C 14 54418986 54418986 T C snp 3651.77 1/1 99 127 0 127 1.0 intronic rs2761880 BMP4 AU,AD NM_001202 exon2 c.2198+39T>C 0.730032 0.7034 0.848392 0.8873 0.7207 Uncertain 14_54863577_G->A 14 54863577 54863577 G A snp 2078.77 1/1 99 75 0 75 1.0 upstream rs2235961 CDKN3 AU 0.683906 0.6498 Uncertain 14_54869027_-->GT 14 54869027 54869027 - GT indel 664.73 0/1 99 29 6 23 0.79 intronic rs35529322 CDKN3 AU NM_005192 exon3 c.4511+730insGT Uncertain 14_54875276_C->A 14 54875276 54875276 C A snp 267.8 1/1 21 7 0 7 1.0 intronic rs4251623 CDKN3 AU NM_001130851 exon3 c.11676-186C>A 0.68111 0.6488 0.7009 0.6329 Uncertain 14_54875514_A->G 14 54875514 54875514 A G snp 1005.77 1/1 72 35 0 35 1.0 intronic rs2179896 CDKN3 AU NM_001130851 exon3 c.11721+7A>G 0.686502 0.6607 0.716798 0.6850 0.6562 Uncertain 14_54875607_A->G 14 54875607 54875607 A G snp 169.9 1/1 15 8 0 8 1.0 intronic rs4251626 CDKN3 AU NM_001130851 exon3 c.11721+100A>G 0.303714 0.369 Uncertain 14_54875608_A->C 14 54875608 54875608 A C snp 185.9 1/1 15 8 0 8 1.0 intronic rs4251627 CDKN3 AU NM_001130851 exon3 c.11721+101A>C 0.303714 0.369 Uncertain 14_54879473_G->T 14 54879473 54879473 G T snp 3304.77 1/1 99 124 0 124 1.0 intronic rs2268332 CDKN3 AU NM_001130851 exon4 c.14638+1049G>T 0.486621 0.5843 Uncertain 14_54880522_C->G 14 54880522 54880522 C G snp 751.77 0/1 99 57 31 26 0.46 intronic rs4251647 CDKN3 AU NM_001130851 exon5 c.18830-2094C>G 0.142572 0.0724 Uncertain 14_54885068_G->T 14 54885068 54885068 G T snp 1860.77 0/1 99 145 73 72 0.5 intronic rs4251667 CDKN3 AU NM_001130851 exon6 c.20883+399G>T 0.0453275 0.0714 Uncertain 14_54897265_T->G 14 54897265 54897265 T G snp 159.77 0/1 99 13 7 6 0.46 intronic rs10400770 CNIH1 AU NM_005776 exon2 c.2591+143T>G 0.129593 0.2847 Uncertain 14_54903617_C->A 14 54903617 54903617 C A snp 1739.77 0/1 99 161 88 73 0.45 intronic rs2298078 CNIH1 AU NM_005776 exon4 c.8624+462C>A 0.128594 0.2847 Uncertain 14_54947501_T->C 14 54947501 54947501 T C snp 300.77 0/1 99 35 20 15 0.43 intronic rs59955412 GMFB AU NM_004124 exon3 c.2786-90T>C 0.345847 0.4296 Uncertain 14_55034879_T->C 14 55034879 55034879 T C snp 154.77 0/1 99 8 3 5 0.63 intronic rs3742558 SAMD4A AU NM_015589 exon1 c.196+49T>C 0.473842 0.5645 0.3970 0.4167 Uncertain 14_55168673_A->G 14 55168673 55168673 A G snp 852.77 1/1 63 23 0 23 1.0 intronic rs1022754 SAMD4A AU NM_015589 exon2 c.134145-106A>G 0.980631 1 Uncertain 14_55203703_G->T 14 55203703 55203703 G T snp 458.77 0/1 99 41 23 18 0.44 intronic rs10133272 SAMD4A AU NM_015589 exon3 c.169107-38G>T 0.258786 0.1944 0.211482 0.2613 0.2003 Uncertain 14_55215297_C->G 14 55215297 55215297 C G snp 52.74 1/1 6 2 0 2 1.0 intronic rs2295818 SAMD4A AU NM_015589 exon4 c.180898-235C>G 0.760184 0.6756 Uncertain 14_55218161_A->C 14 55218161 55218161 A C snp 410.77 0/1 99 33 17 16 0.48 intronic rs2295820 SAMD4A AU NM_015589 exon5 c.183534-7A>C 0.334065 0.3075 0.436030 0.4352 0.2564 Uncertain 14_55218435_A->G 14 55218435 55218435 A G snp 778.77 1/1 57 24 0 24 1.0 intronic rs2295822 SAMD4A AU NM_015589 exon5 c.183621+180A>G 0.901158 0.875 Uncertain 14_55221345_G->A 14 55221345 55221345 G A snp 164.9 1/1 15 5 0 5 1.0 intronic rs911612 SAMD4A AU NM_015589 exon5 c.183621+3090G>A 0.990415 0.9692 Uncertain 14_55221543_T->C 14 55221543 55221543 T C snp 925.77 0/1 99 91 48 43 0.47 UTR5 rs11627203 SAMD4A AU 0.27496 0.2202 Uncertain 14_55237048_G->A 14 55237048 55237048 G A snp 549.77 0/1 99 36 16 20 0.56 intronic rs569279996 SAMD4A AU NM_001161577 exon4 c.10011+108G>A 0.00119808 0.006 Uncertain 14_55241558_G->A 14 55241558 55241558 G A snp 494.77 0/1 99 53 30 23 0.43 intronic rs72713435 SAMD4A AU NM_001161577 exon5 c.14722-93G>A 0.185304 0.1181 Uncertain 14_55241559_A->C 14 55241559 55241559 A C snp 578.77 0/1 99 58 34 24 0.41 intronic rs72713436 SAMD4A AU NM_001161577 exon5 c.14722-92A>C 0.185304 0.1181 Uncertain 14_55255673_C->T 14 55255673 55255673 C T snp 7090.77 1/1 99 250 0 250 1.0 UTR3 rs11431 SAMD4A AU 0.576078 0.6528 0.602876 0.5314 0.6369 Uncertain 14_55310492_G->A 14 55310492 55310492 G A snp 1041.77 0/1 99 98 48 50 0.51 UTR3 rs841 GCH1 AR,AD 0.229832 0.3393 0.200330 0.2106 0.3657 ID=CR075245;DIS=Decreased expression;TAG=DFP;PUB=17717598 DFP Uncertain 14_55344901_C->T 14 55344901 55344901 C T snp 390.77 0/1 99 38 22 16 0.42 ncRNA_exonic rs28477407 MIR4308 AU 0.303914 0.4306 0.2220 0.3438 Uncertain 14_55369502_A->G 14 55369502 55369502 A G snp 137.03 1/1 12 5 0 5 1.0 UTR5 rs1753589 GCH1 AR,AD 0.945687 0.9802 Uncertain 14_55429903_GG->- 14 55429903 55429904 GG - indel 909.73 ./1 99 63 7 56 0.89 intronic rs568648108 WDHD1 AU NM_007086 exon8 c.21683+13_21683+14delGG 0.3257 0.3307 Uncertain 14_55429903_G->- 14 55429903 55429903 G - indel 909.73 ./1 99 63 7 56 0.89 intronic rs34874701 WDHD1 AU NM_007086 exon8 c.21683+13delG 0.469649 0.3948 0.3615 0.2369 Uncertain 14_55454119_-->AATT 14 55454119 55454119 - AATT indel 1121.73 0/1 99 43 22 21 0.49 intronic rs147777028 WDHD1 AU NM_007086 exon13 c.45898+14insAATT 0.145767 0.1379 0.157474 0.1687 0.1286 Uncertain 14_55474190_A->G 14 55474190 55474190 A G snp 37.77 0/1 66 4 2 2 0.5 intronic rs45459500 WDHD1 AU NM_007086 exon20 c.65886+97A>G 0.146166 0.1379 Uncertain 14_55493350_T->C 14 55493350 55493350 T C snp 1666.77 0/1 99 115 57 58 0.5 intronic rs1187878 WDHD1 AU NM_007086 exon25 c.85221-78T>C 0.644369 0.8036 Uncertain 14_55493408_T->C 14 55493408 55493408 T C snp 3284.77 0/1 99 250 124 126 0.5 intronic rs1201378 WDHD1 AU NM_007086 exon25 c.85221-20T>C 0.523163 0.7917 0.458173 0.5677 0.7896 Uncertain 14_55530120_T->C 14 55530120 55530120 T C snp 564.77 0/1 99 41 21 20 0.49 intronic rs3742564 MAPK1IP1L AU NM_144578 exon3 c.1642+77T>C 0.434105 0.1944 Uncertain 14_55604935_C->A 14 55604935 55604935 C A snp 2517.77 0/1 99 207 105 102 0.49 exonic rs4644 LGALS3 AU nonsynonymous SNV NM_002306 exon3 c.C191A p.P64H 0.293331 0.1885 0.361328 0.3548 0.1955 0.03 T 1.000 P -1.154 T 1.0 D 0.997 D ID=CM086193;DIS=Breast cancer, increased risk, association with;TAG=DFP;PUB=19074869 DFP Pathogenic 14_55605036_A->C 14 55605036 55605036 A C snp 2408.77 0/1 99 236 125 111 0.47 exonic rs4652 LGALS3 AU nonsynonymous SNV NM_002306 exon3 c.A292C p.T98P 0.569688 0.4127 0.585816 0.4558 0.3979 1 T 0.000 P -0.980 T 0.0 T 0.0 T ID=CM1111072;DIS=Rheumatoid arthritis, susceptibility, association;TAG=DP;PUB=21475983 DP Pathogenic 14_55609234_C->T 14 55609234 55609234 C T snp 321.77 0/1 99 25 13 12 0.48 intronic rs2075601 LGALS3 AU NM_002306 exon5 c.5210-67C>T 0.567492 0.4107 Uncertain 14_55617579_A->- 14 55617579 55617579 A - indel 392.73 0/1 99 42 23 19 0.45 intronic rs35448900 DLGAP5 AU NM_014750 exon2 c.2498+13delA 0.320687 0.1062 0.412313 0.3910 0.1342 Uncertain 14_55619231_C->T 14 55619231 55619231 C T snp 244.8 0/1 21 13 2 11 0.85 intronic rs183635665 DLGAP5 AU NM_014750 exon4 c.4239-76C>T 0.000998403 0.004 Uncertain 14_55619311_A->G 14 55619311 55619311 A G snp 211.77 0/1 99 30 21 9 0.3 exonic rs15870 DLGAP5 AU synonymous SNV NM_001146015 exon16 c.T2118C p.N706N 0.338059 0.1895 0.408581 0.3845 0.2002 Uncertain 14_55647576_A->- 14 55647576 55647576 A - indel 815.73 0/1 99 56 31 25 0.45 intronic rs11351178 DLGAP5 AU NM_014750 exon14 c.32428+80delA 0.570088 0.4206 Uncertain 14_55647840_C->T 14 55647840 55647840 C T snp 489.77 0/1 99 33 14 19 0.58 intronic rs11622636 DLGAP5 AU NM_014750 exon15 c.32862-90C>T 0.194089 0.1796 Uncertain 14_55817708_T->C 14 55817708 55817708 T C snp 1964.77 0/1 99 122 51 71 0.58 exonic rs10144418 FBXO34 AU synonymous SNV NM_017943 exon2 c.T600C p.Y200Y 0.31889 0.3185 0.354606 0.3737 0.3231 Uncertain 14_55818517_T->A 14 55818517 55818517 T A snp 3094.77 0/1 99 250 116 134 0.54 exonic rs1045002 FBXO34 AU nonsynonymous SNV NM_017943 exon2 c.T1409A p.I470N 0.331669 0.3185 0.366600 0.3836 0.3231 0.54 T 0.0 P -0.906 T 0.001 T 0.008 T Pathogenic 14_55818706_T->C 14 55818706 55818706 T C snp 1730.77 0/1 99 134 66 68 0.51 exonic rs3742569 FBXO34 AU nonsynonymous SNV NM_017943 exon2 c.T1598C p.L533P 0.397764 0.3185 0.431570 0.4020 0.3234 0.14 T 0.0 P -0.926 T 0.0 T 0.0 T Pathogenic 14_55836773_A->G 14 55836773 55836773 A G snp 235.77 0/1 94 12 4 8 0.67 intronic rs10136596 ATG14 AU NM_014924 exon1 c.307+130A>G 0.361821 0.3194 Uncertain 14_55847466_A->G 14 55847466 55847466 A G snp 1141.77 0/1 99 134 84 50 0.37 intronic rs946059 ATG14 AU NM_014924 exon4 c.11072+58A>G 0.560903 0.3681 Uncertain 14_55848972_A->C 14 55848972 55848972 A C snp 841.77 0/1 99 77 42 35 0.45 intronic rs3783650 ATG14 AU NM_014924 exon5 c.12573+63A>C 0.560903 0.3681 Uncertain 14_55880918_A->G 14 55880918 55880918 A G snp 74.77 0/1 99 9 6 3 0.33 downstream rs946055 TBPL2 AU 0.470447 0.5079 Uncertain 14_55902542_G->A 14 55902542 55902542 G A snp 656.77 0/1 99 58 25 33 0.57 intronic rs7149317 TBPL2 AU NM_199047 exon5 c.21468-22G>A 0.742412 0.6786 0.712779 0.7117 0.7196 Uncertain 14_55907025_T->A 14 55907025 55907025 T A snp 668.77 0/1 99 61 34 27 0.44 intronic rs8020152 TBPL2 AU NM_199047 exon7 c.26017-88T>A 0.569688 0.631 Uncertain 14_55907172_C->G 14 55907172 55907172 C G snp 885.77 0/1 99 59 22 37 0.63 exonic rs8019270 TBPL2 AU nonsynonymous SNV NM_199047 exon1 c.G92C p.R31P 0.684704 0.6349 0.645743 0.6334 0.6585 0.18 T 0.0 P -0.987 T 0.0 T 0.0 T Pathogenic 14_56078739_T->G 14 56078739 56078739 T G snp 750.77 1/1 57 28 0 28 1.0 UTR5 rs1138345 KTN1 AU 0.259385 0.376 0.267057 0.2988 0.3440 Uncertain 14_56085812_G->A 14 56085812 56085812 G A snp 93.28 1/1 9 3 0 3 1.0 intronic rs7148503 KTN1 AU NM_001271014 exon6 c.7133-87G>A 0.989018 1 Uncertain 14_56086190_T->C 14 56086190 56086190 T C snp 96.28 1/1 9 3 0 3 1.0 intronic rs7154548 KTN1 AU NM_001271014 exon6 c.7264+160T>C 0.368211 0.4058 Uncertain 14_56100160_G->T 14 56100160 56100160 G T snp 218.84 1/1 18 6 0 6 1.0 intronic rs10135907 KTN1 AU NM_001271014 exon9 c.21293+101G>T 0.996605 1 Uncertain 14_56101165_AACT->- 14 56101165 56101168 AACT - indel 854.73 0/1 99 27 12 15 0.56 intronic rs139496974 KTN1 AU NM_001271014 exon10 c.22477-78_22477-75delAACT 0.28774 0.3512 Uncertain 14_56101212_C->T 14 56101212 56101212 C T snp 1012.77 0/1 99 82 40 42 0.51 intronic rs34111199 KTN1 AU NM_001271014 exon10 c.22477-31C>T 0.288738 0.3512 0.279410 0.2865 0.3256 Uncertain 14_56104751_G->T 14 56104751 56104751 G T snp 75.77 0/1 99 6 3 3 0.5 intronic rs7156566 KTN1 AU NM_001271014 exon13 c.25799+186G>T 0.265775 0.3512 Uncertain 14_56106032_GAC->- 14 56106032 56106034 GAC - indel 1374.73 0/1 99 69 37 32 0.46 intronic rs3059147 KTN1 AU NM_001271014 exon14 c.27174+92_27174+94delGAC 0.301518 0.3512 Uncertain 14_56108007_G->A 14 56108007 56108007 G A snp 970.77 1/1 69 39 0 39 1.0 intronic rs10483649 KTN1 AU NM_001271014 exon18 c.29160+81G>A 0.294329 0.3889 Uncertain 14_56108033_G->A 14 56108033 56108033 G A snp 701.77 1/1 51 28 0 28 1.0 intronic rs2341890 KTN1 AU NM_001271014 exon18 c.29160+107G>A 0.996605 1 Uncertain 14_56108520_A->G 14 56108520 56108520 A G snp 908.77 1/1 66 30 0 30 1.0 intronic rs1951890 KTN1 AU NM_001271014 exon19 c.29712+42A>G 0.294529 0.3899 0.281905 0.2808 0.3573 Uncertain 14_56113917_A->C 14 56113917 56113917 A C snp 158.77 0/1 99 14 5 9 0.64 intronic rs17684916 KTN1 AU NM_001271014 exon20 c.34959+192A>C 0.332069 0.3651 Uncertain 14_56114866_A->T 14 56114866 56114866 A T snp 415.77 0/1 99 44 24 20 0.45 intronic rs17128657 KTN1 AU NM_001271014 exon21 c.36067+33A>T 0.261382 0.3522 0.249731 0.2779 0.3254 Uncertain 14_56116577_T->- 14 56116577 56116577 T - indel 409.73 0/1 99 41 16 25 0.61 intronic rs71448463 KTN1 AU NM_001271014 exon23 c.37765+46delT 0.362021 0.371 0.391176 0.4444 0.4140 Uncertain 14_56119454_C->T 14 56119454 56119454 C T snp 117.78 0/1 27 5 1 4 0.8 intronic rs17684959 KTN1 AU NM_001271014 exon27 c.40801-113C>T 0.346446 0.3611 Uncertain 14_56122613_T->A 14 56122613 56122613 T A snp 56.74 1/1 6 2 0 2 1.0 intronic rs4901595 KTN1 AU NM_001271014 exon30 c.43993-146T>A 1 1 Uncertain 14_56122689_G->A 14 56122689 56122689 G A snp 215.77 0/1 99 25 15 10 0.4 intronic rs35094494 KTN1 AU NM_001271014 exon30 c.43993-70G>A 0.287141 0.3522 Uncertain 14_56126456_C->A 14 56126456 56126456 C A snp 2512.77 1/1 99 92 0 92 1.0 intronic rs7160678 KTN1 AU NM_001271014 exon32 c.47655+35C>A 0.989018 1 0.989709 0.9974 1 Uncertain 14_56128387_A->G 14 56128387 56128387 A G snp 288.77 0/1 99 23 14 9 0.39 intronic rs74761505 KTN1 AU NM_001271014 exon33 c.49564+57A>G 0.0107827 0.0526 Uncertain 14_56133942_C->T 14 56133942 56133942 C T snp 628.77 0/1 99 62 35 27 0.44 intronic rs7150285 KTN1 AU NM_001271014 exon35 c.55192-16C>T 0.355232 0.3681 0.369368 0.3566 0.3253 Uncertain 14_56139314_T->- 14 56139314 56139314 T - indel 1900.73 0/1 99 105 46 59 0.56 intronic rs3215766 KTN1 AU NM_001271014 exon39 c.60581-33delT 0.35004 0.3651 0.3581 0.3239 Uncertain 14_56142480_A->G 14 56142480 56142480 A G snp 472.77 0/1 99 29 13 16 0.55 intronic rs3736877 KTN1 AU NM_001271014 exon41 c.63786-72A>G 0.395168 0.5218 Uncertain 14_56146228_T->G 14 56146228 56146228 T G snp 210.77 0/1 99 21 12 9 0.43 intronic rs12587735 KTN1 AU NM_001271014 exon43 c.67516-54T>G 0.383786 0.369 Uncertain 14_56147540_G->T 14 56147540 56147540 G T snp 393.77 0/1 99 27 14 13 0.48 intronic rs10483651 KTN1 AU NM_001271014 exon43 c.67637+1137G>T 0.303514 0.3651 Uncertain 14_56958173_C->G 14 56958173 56958173 C G snp 233.77 0/1 99 17 7 10 0.59 intergenic rs1889382 PELI2 AU 0.617013 0.629 Uncertain 14_56958247_C->T 14 56958247 56958247 C T snp 603.77 0/1 99 53 26 27 0.51 intergenic rs12893562 PELI2 AU 0.311502 0.5655 0.2781 0.5758 Uncertain 14_57046829_C->A 14 57046829 57046829 C A snp 407.77 0/1 99 37 17 20 0.54 intronic rs2275025 TMEM260 AU NM_017799 exon1 c.160+37C>A 0.319489 0.4583 0.240077 0.3777 0.4747 Uncertain 14_57052511_G->T 14 57052511 57052511 G T snp 2656.77 0/1 99 209 89 120 0.57 exonic rs3737171 TMEM260 AU synonymous SNV NM_017799 exon3 c.G225T p.T75T 0.323283 0.4732 0.301169 0.3911 0.5377 Uncertain 14_57070501_A->G 14 57070501 57070501 A G snp 2968.77 1/1 99 101 0 101 1.0 intronic rs10782433 TMEM260 AU NM_017799 exon4 c.23900-31A>G 0.910144 0.996 0.891281 0.8874 0.9980 Uncertain 14_57082648_A->G 14 57082648 57082648 A G snp 663.77 0/1 99 46 17 29 0.63 intronic rs2275024 TMEM260 AU NM_017799 exon8 c.36029-13A>G 0.597244 0.4365 0.653468 0.5743 0.3744 Uncertain 14_57092038_A->G 14 57092038 57092038 A G snp 1109.77 0/1 99 78 30 48 0.62 intronic rs2274706 TMEM260 AU NM_017799 exon12 c.45467-61A>G 0.396765 0.4643 Uncertain 14_57099859_G->A 14 57099859 57099859 G A snp 833.77 0/1 99 66 33 33 0.5 exonic rs1041316 TMEM260 AU nonsynonymous SNV NM_017799 exon13 c.G1694A p.S565N 0.704073 0.6597 0.745694 0.7174 0.6410 1 T 0.0 P -0.975 T 0.0 T 0.0 T Pathogenic 14_57101682_A->G 14 57101682 57101682 A G snp 7173.77 1/1 99 249 0 249 1.0 intronic rs913742 TMEM260 AU NM_017799 exon14 c.55038+12A>G 0.682308 0.7143 0.706520 0.7476 0.7647 Uncertain 14_57114285_-->A 14 57114285 57114285 - A indel 167.73 0/1 99 20 7 13 0.65 UTR3 rs34046661 TMEM260 AU 0.225439 0.1429 Uncertain 14_57116979_A->G 14 57116979 57116979 A G snp 314.78 1/1 24 11 0 11 1.0 downstream rs1958530 TMEM260 AU 0.921526 0.998 Uncertain 14_57196766_C->T 14 57196766 57196766 C T snp 1219.77 0/1 99 65 22 43 0.66 intergenic rs10151357 TMEM260 AU 0.421326 0.4802 Uncertain 14_57197024_C->T 14 57197024 57197024 C T snp 1504.77 0/1 99 142 73 69 0.49 intergenic rs17092038 TMEM260 AU 0.0583067 0.1409 0.0462 0.2045 Uncertain 14_57672540_T->C 14 57672540 57672540 T C snp 1214.77 0/1 99 76 30 46 0.61 UTR3 rs3742577 EXOC5 AU 0.310903 0.1141 0.1692 0.1667 Uncertain 14_57672715_C->T 14 57672715 57672715 C T snp 1222.77 0/1 99 81 30 51 0.63 UTR3 rs3742578 EXOC5 AU 0.310104 0.1141 0.1676 0.1667 0 D 0.0 P -1.010 T Uncertain 14_57676330_G->T 14 57676330 57676330 G T snp 1482.77 0/1 99 160 94 66 0.41 exonic rs1804820 EXOC5 AU synonymous SNV NM_006544 exon17 c.C1893A p.A631A 0.278754 0.0883 0.251489 0.1180 0.0929 Uncertain 14_57676511_T->A 14 57676511 57676511 T A snp 1370.77 0/1 99 143 80 63 0.44 intronic rs10143527 EXOC5 AU NM_006544 exon2 c.1174+11T>A 0.272165 0.0863 0.003918 0.1480 0.1132 Uncertain 14_57676515_C->T 14 57676515 57676515 C T snp 1398.77 0/1 99 139 77 62 0.45 intronic rs10131287 EXOC5 AU NM_006544 exon2 c.1174+15C>T 0.278355 0.0863 0.001193 0.1473 0.1124 Uncertain 14_57676824_T->- 14 57676824 57676824 T - indel 675.73 0/1 99 36 17 19 0.53 intronic rs200089845 EXOC5 AU NM_006544 exon3 c.1453+45delT 0.164137 0.1944 0.114561 0.1955 0.2126 Uncertain 14_57702687_C->T 14 57702687 57702687 C T snp 109.77 0/1 99 11 6 5 0.45 intronic rs3736904 EXOC5 AU NM_006544 exon12 c.27212+149C>T 0.277955 0.0863 Uncertain 14_57704232_T->C 14 57704232 57704232 T C snp 73.77 0/1 99 14 10 4 0.29 intronic rs1980783 EXOC5 AU NM_006544 exon13 c.28758+148T>C 0.270966 0.0863 Uncertain 14_57711181_C->T 14 57711181 57711181 C T snp 469.77 0/1 99 35 20 15 0.43 intronic rs9323303 EXOC5 AU NM_006544 exon15 c.35751+104C>T 0.24361 0.0863 Uncertain 14_57713422_C->T 14 57713422 57713422 C T snp 46.77 0/1 33 4 1 3 0.75 intronic rs2038860 EXOC5 AU NM_006544 exon16 c.38102-6C>T 0.273163 0.0863 0.245363 0.1087 0.0915 Uncertain 14_57735954_T->C 14 57735954 57735954 T C snp 624.77 0/1 99 53 27 26 0.49 UTR5 rs7152744 AP5M1 AU 0.278155 0.0665 Uncertain 14_57740793_T->G 14 57740793 57740793 T G snp 90.28 1/1 9 3 0 3 1.0 intronic rs1189898 AP5M1 AU NM_018229 exon2 c.4929-168T>G 0.75619 0.6746 Uncertain 14_57741550_A->G 14 57741550 57741550 A G snp 1823.77 0/1 99 123 51 72 0.59 exonic rs1189899 AP5M1 AU synonymous SNV NM_018229 exon2 c.A663G p.Q221Q 0.272364 0.0655 0.257812 0.1134 0.0550 Uncertain 14_57866623_A->G 14 57866623 57866623 A G snp 687.77 0/1 99 52 22 30 0.58 intronic rs2152360 NAA30 AU NM_001011713 exon4 c.8926+22A>G 0.653754 0.7946 0.667513 0.8271 0.8170 Uncertain 14_57876265_G->A 14 57876265 57876265 G A snp 1991.77 0/1 99 183 90 93 0.51 UTR3 rs11620639 NAA30 AU 0.791134 0.8393 0.829233 0.9055 0.8607 Uncertain 14_57938124_C->T 14 57938124 57938124 C T snp 3264.77 1/1 99 117 0 117 1.0 exonic rs1152531 C14orf105 AU synonymous SNV NM_018168 exon6 c.G840A p.R280R 0.665935 0.9603 0.580963 0.7298 0.9547 Uncertain 14_57938260_T->C 14 57938260 57938260 T C snp 1451.77 1/1 99 47 0 47 1.0 exonic rs1152530 C14orf105 AU nonsynonymous SNV NM_018168 exon6 c.A704G p.Y235C 0.89357 1 0.888667 0.9696 0.9999 0.19 T 0.0 P -1.007 T 0.043 T 0.029 T Pathogenic 14_57945689_G->A 14 57945689 57945689 G A snp 2897.77 1/1 99 96 0 96 1.0 intronic rs1152525 C14orf105 AU NM_001283060 exon1 c.17-54G>A 0.900759 1 0.9942 1 Uncertain 14_57948380_T->C 14 57948380 57948380 T C snp 1523.77 1/1 99 59 0 59 1.0 splicing rs1152522 C14orf105 AU NM_018168 exon3 c.10306+2T>C 0.685104 0.9613 0.598354 0.7371 0.9552 1.000 P Pathogenic 14_57957654_T->C 14 57957654 57957654 T C snp 1344.77 1/1 96 51 0 51 1.0 intronic rs1203339 C14orf105 AU NM_001283058 exon5 c.19587-5T>C 0.695088 0.9643 0.651336 0.7800 0.9596 Uncertain 14_57957664_T->A 14 57957664 57957664 T A snp 1454.77 1/1 99 57 0 57 1.0 intronic rs1203338 C14orf105 AU NM_001283058 exon5 c.19587+5T>A 0.908746 1 0.906413 0.9743 0.9999 Uncertain 14_58036494_G->A 14 58036494 58036494 G A snp 49.77 0/1 78 10 7 3 0.3 intronic rs2297113 SLC35F4 AU NM_001206920 exon3 c.5653-11G>A 0.174521 0.122 0.197200 0.2897 0.1545 Uncertain 14_58038544_T->G 14 58038544 58038544 T G snp 899.77 0/1 99 81 45 36 0.44 intronic rs725048 SLC35F4 AU NM_001206920 exon4 c.7759-67T>G 0.241813 0.123 Uncertain 14_58056257_G->T 14 58056257 58056257 G T snp 811.77 0/1 99 75 42 33 0.44 intronic rs1190313 SLC35F4 AU NM_001206920 exon6 c.25376+29G>T 0.663938 0.8819 0.592900 0.6141 0.8906 Uncertain 14_58056329_-->CAGA 14 58056329 58056329 - CAGA indel 470.73 0/1 99 24 11 13 0.54 intronic rs544630169 SLC35F4 AU NM_001206920 exon6 c.25376+101insCAGA 0.00179712 0.0089 Uncertain 14_58060586_C->T 14 58060586 58060586 C T snp 189.77 0/1 94 11 5 6 0.55 intronic rs180872 SLC35F4 AU NM_001206920 exon7 c.29804-70C>T 0.279553 0.1171 Uncertain 14_58060598_C->G 14 58060598 58060598 C G snp 264.77 0/1 99 14 6 8 0.57 intronic rs238377 SLC35F4 AU NM_001206920 exon7 c.29804-58C>G 0.342851 0.1161 Uncertain 14_58471355_T->C 14 58471355 58471355 T C snp 127.78 0/1 27 6 1 5 0.83 UTR3 rs2295139 C14orf37 AU 0.177516 0.1329 Uncertain 14_58471390_C->T 14 58471390 58471390 C T snp 49.77 0/1 78 17 12 5 0.29 UTR3 C14orf37 AU Uncertain 14_58471392_G->T 14 58471392 58471392 G T snp 38.77 0/1 67 20 13 7 0.35 UTR3 C14orf37 AU Uncertain 14_58478711_C->T 14 58478711 58478711 C T snp 449.77 0/1 99 34 15 19 0.56 intronic rs77195206 C14orf37 AU NM_001001872 exon3 c.7383-125C>T 0.00239617 0.0119 Uncertain 14_58478874_A->- 14 58478874 58478874 A - indel 218.73 0/1 99 20 8 12 0.6 splicing rs3837616 C14orf37 AU NM_001001872 exon3 c.7415+6delA 0.546725 0.6677 0.573945 0.5823 0.6582 Pathogenic 14_58600108_A->T 14 58600108 58600108 A T snp 46.77 0/1 72 5 2 3 0.6 intronic rs77646760 C14orf37 AU NM_001001872 exon6 c.128606+49A>T 0.0349441 0.0536 0.001943 0.0251 0.1088 Uncertain 14_58666882_A->G 14 58666882 58666882 A G snp 1130.77 0/1 99 81 37 44 0.54 UTR5 rs61975916 ACTR10 AU 0.378594 0.3651 Uncertain 14_58669661_T->- 14 58669661 58669661 T - indel 536.73 0/1 99 45 27 18 0.4 intronic rs75291796 ACTR10 AU NM_018477 exon2 c.2710+16delT 0.358626 0.3621 0.4046 0.3606 Uncertain 14_58678269_A->G 14 58678269 58678269 A G snp 117.78 0/1 27 5 1 4 0.8 intronic rs6573192 ACTR10 AU NM_018477 exon5 c.11182+152A>G 0.698482 0.378 Uncertain 14_58690182_A->C 14 58690182 58690182 A C snp 260.77 0/1 99 20 10 10 0.5 intronic rs78351784 ACTR10 AU NM_018477 exon9 c.23404-157A>C 0.0850639 0.1954 Uncertain 14_58724817_-->TT 14 58724817 58724817 - TT indel 299.73 0/1 99 17 10 7 0.41 intronic rs35486640 PSMA3 AU NM_002788 exon5 c.13078+101insTT Uncertain 14_58730626_A->G 14 58730626 58730626 A G snp 108.77 0/1 99 11 7 4 0.36 intronic rs2348071 PSMA3 AU NM_002788 exon7 c.18850+138A>G 0.651757 0.4137 Uncertain 14_58737402_C->T 14 58737402 58737402 C T snp 56.74 1/1 6 2 0 2 1.0 ncRNA_intronic rs1885133 PSMA3-AS1 AU 0.680711 0.4077 Uncertain 14_58737766_A->T 14 58737766 58737766 A T snp 125.77 0/1 99 31 24 7 0.23 ncRNA_intronic rs8005100 PSMA3-AS1 AU 0.671925 0.4137 0.749270 0.6926 0.3976 Uncertain 14_58758331_-->T 14 58758331 58758331 - T indel 1112.73 0/1 99 64 32 32 0.5 ncRNA_intronic rs11461912 PSMA3-AS1 AU 0.648962 0.4048 0.7297 0.3712 Uncertain 14_58766617_A->G 14 58766617 58766617 A G snp 1376.77 0/1 99 138 78 60 0.43 intronic rs1957038 ARID4A AU NM_023000 exon2 c.6+39A>G 0.674121 0.4107 0.748885 0.6902 0.3992 Uncertain 14_58770389_C->G 14 58770389 58770389 C G snp 740.77 0/1 99 69 37 32 0.46 intronic rs10145481 ARID4A AU NM_023000 exon4 c.5089-1272C>G 0.650359 0.4097 Uncertain 14_58771632_A->G 14 58771632 58771632 A G snp 233.77 0/1 99 16 7 9 0.56 intronic rs7155580 ARID4A AU NM_023000 exon4 c.5089-29A>G 0.682308 0.4097 0.755966 0.6940 0.3989 Uncertain 14_58838668_A->G 14 58838668 58838668 A G snp 4914.77 1/1 99 185 0 185 1.0 exonic rs1051860 ARID4A AU synonymous SNV NM_023001 exon23 c.A3528G p.S1176S 0.539137 0.4762 0.530294 0.5777 0.4783 Uncertain 14_58838701_C->T 14 58838701 58838701 C T snp 4638.77 1/1 99 171 0 171 1.0 exonic rs1051861 ARID4A AU synonymous SNV NM_023001 exon23 c.C3561T p.C1187C 0.531949 0.4762 0.521990 0.5737 0.4746 Uncertain 14_58869510_T->C 14 58869510 58869510 T C snp 814.77 1/1 60 29 0 29 1.0 intronic rs7153357 TOMM20L AU NM_207377 exon3 c.6804+31T>C 0.982428 1 0.985314 0.9953 0.9998 Uncertain 14_58917225_C->G 14 58917225 58917225 C G snp 405.77 1/1 33 13 0 13 1.0 intronic rs1748970 KIAA0586 AR NM_001244193 exon5 c.7863-71C>G 0.997404 1 Uncertain 14_58917454_G->A 14 58917454 58917454 G A snp 3735.77 1/1 99 137 0 137 1.0 exonic rs1748971 KIAA0586 AR synonymous SNV NM_001244189 exon10 c.G1278A p.S426S 0.997404 1 0.997294 0.9991 1 Uncertain 14_58920240_A->C 14 58920240 58920240 A C snp 272.8 1/1 21 11 0 11 1.0 intronic rs1748975 KIAA0586 AR NM_001244193 exon6 c.10758+49A>C 0.98123 1 0.985115 0.9934 1 Uncertain 14_58923395_G->A 14 58923395 58923395 G A snp 3045.77 1/1 99 105 0 105 1.0 intronic rs1743721 KIAA0586 AR NM_001244193 exon7 c.13986-24G>A 0.968251 0.9841 0.976770 0.9907 0.9875 Uncertain 14_58927984_G->A 14 58927984 58927984 G A snp 263.8 1/1 21 8 0 8 1.0 intronic rs1743719 KIAA0586 AR NM_001244193 exon11 c.18445+106G>A 0.982428 1 Uncertain 14_58932772_A->G 14 58932772 58932772 A G snp 3121.77 1/1 99 102 0 102 1.0 intronic rs1743716 KIAA0586 AR NM_001244193 exon12 c.23314+25A>G 0.968251 0.9841 0.976547 0.9915 0.9892 Uncertain 14_58934371_G->A 14 58934371 58934371 G A snp 831.77 1/1 63 23 0 23 1.0 intronic rs1632390 KIAA0586 AR NM_001244193 exon13 c.25019-81G>A 0.968051 0.9841 Uncertain 14_58937416_T->C 14 58937416 58937416 T C snp 5215.77 1/1 99 206 1 205 1.0 exonic rs1748986 KIAA0586 AR nonsynonymous SNV NM_001244189 exon19 c.T2687C p.L896P 0.968251 0.9841 0.977076 0.9916 0.9892 0.22 T 0.000 P -0.952 T 0.001 T 0.002 T Pathogenic 14_58949144_G->A 14 58949144 58949144 G A snp 136.03 1/1 12 4 0 4 1.0 intronic rs2757712 KIAA0586 AR NM_001244193 exon18 c.39797-86G>A 0.996206 1 Uncertain 14_58953617_T->C 14 58953617 58953617 T C snp 298.78 1/1 24 10 0 10 1.0 intronic rs1743702 KIAA0586 AR NM_001244193 exon19 c.44291-107T>C 0.974042 0.998 Uncertain 14_58953746_C->G 14 58953746 58953746 C G snp 2296.77 1/1 99 89 0 89 1.0 exonic rs1617510 KIAA0586 AR nonsynonymous SNV NM_001244189 exon24 c.C3325G p.P1109A 0.974042 0.999 0.977642 0.9929 0.9998 0.9 T 0.000 P -0.944 T 0.0 T 0.002 T Pathogenic 14_58954588_-->A 14 58954588 58954588 - A indel 1012.73 1/1 99 36 0 36 1.0 intronic rs397781261 KIAA0586 AR NM_001244193 exon20 c.45171-16insA 0.981629 0.9931 0.916931 0.9303 0.9194 Uncertain 14_58955715_A->G 14 58955715 58955715 A G snp 86.28 1/1 9 3 0 3 1.0 intronic rs1748998 KIAA0586 AR NM_001244193 exon21 c.46159+123A>G 0.969249 0.9841 Uncertain 14_59010533_C->T 14 59010533 59010533 C T snp 246.77 0/1 99 34 22 12 0.35 intronic rs78858898 KIAA0586 AR NM_001244189 exon33 c.116254-67C>T 0.0515176 0.249 Uncertain 14_59010649_T->C 14 59010649 59010649 T C snp 1492.77 1/1 99 55 0 55 1.0 exonic rs28535751 KIAA0586 AR nonsynonymous SNV NM_001244189 exon33 c.T4703C p.L1568P 0.453075 0.3889 0.4431 0.3485 0 D 0.0 P -0.918 T 0.0 T 0.0 T Pathogenic 14_59105188_C->T 14 59105188 59105188 C T snp 634.77 0/1 99 68 36 32 0.47 exonic rs2003021 DACT1 AU synonymous SNV NM_016651 exon1 c.C268T p.L90L 0.560703 0.4246 0.581765 0.5670 0.4022 Uncertain 14_59112732_C->T 14 59112732 59112732 C T snp 3109.77 0/1 99 219 98 121 0.55 exonic rs17832998 DACT1 AU nonsynonymous SNV NM_016651 exon4 c.C1391T p.A464V 0.269569 0.2738 0.299523 0.2870 0.2427 0.31 T 0.0 P -0.969 T 0.033 T 0.02 T Pathogenic 14_59789586_A->G 14 59789586 59789586 A G snp 4727.77 1/1 99 163 0 163 1.0 intronic rs8021976 DAAM1 AU NM_014992 exon5 c.59414-23A>G 0.98123 1 0.981316 0.9947 1 Uncertain 14_59789727_G->A 14 59789727 59789727 G A snp 5656.77 1/1 99 196 1 195 0.99 exonic rs8022614 DAAM1 AU synonymous SNV NM_014992 exon5 c.G558A p.K186K 0.336462 0.5883 0.298324 0.3736 0.5549 Uncertain 14_59797115_A->G 14 59797115 59797115 A G snp 1415.77 1/1 99 43 0 43 1.0 intronic rs941883 DAAM1 AU NM_014992 exon12 c.67023-103A>G 0.651957 0.8383 Uncertain 14_59797235_A->G 14 59797235 59797235 A G snp 3544.77 1/1 99 136 0 136 1.0 exonic rs941884 DAAM1 AU synonymous SNV NM_014992 exon12 c.A1389G p.Q463Q 0.655751 0.8383 0.608950 0.6569 0.8112 Uncertain 14_59798473_C->G 14 59798473 59798473 C G snp 1424.77 1/1 99 40 0 40 1.0 intronic rs2146012 DAAM1 AU NM_014992 exon14 c.68335-57C>G 0.886182 0.998 Uncertain 14_59814502_C->A 14 59814502 59814502 C A snp 1216.77 1/1 90 37 1 36 0.97 intronic rs941886 DAAM1 AU NM_014992 exon17 c.84146+161C>A 0.660343 0.8532 Uncertain 14_59820781_T->- 14 59820781 59820781 T - indel 114.7 0/1 6 27 2 25 0.93 intronic rs10713024 DAAM1 AU NM_014992 exon19 c.90487+99delT 0.582069 0.6776 Uncertain 14_59830512_C->A 14 59830512 59830512 C A snp 646.77 0/1 99 41 12 29 0.71 intronic rs2295851 DAAM1 AU NM_014992 exon23 c.100305+12C>A 0.0333466 0.1577 0.000154 0.0117 0.1428 Uncertain 14_59834017_G->T 14 59834017 59834017 G T snp 48.74 1/1 6 2 0 2 1.0 intronic rs10130826 DAAM1 AU NM_014992 exon24 c.103951-129G>T 0.585064 0.8621 Uncertain 14_59834048_C->T 14 59834048 59834048 C T snp 607.77 1/1 45 20 0 20 1.0 intronic rs10130669 DAAM1 AU NM_014992 exon24 c.103951-98C>T 0.655751 0.8631 Uncertain 14_59931373_C->T 14 59931373 59931373 C T snp 1821.77 0/1 99 165 85 80 0.48 exonic rs76859844 GPR135 AU nonsynonymous SNV NM_022571 exon1 c.G572A p.S191N 0.00519169 0.0258 0.0035 0.0414 0.81 T 1 D -1.049 T 0.028 T 0.014 T Pathogenic 14_59954309_G->C 14 59954309 59954309 G C snp 639.77 0/1 99 40 17 23 0.57 intronic rs774214201 JKAMP AU NM_001098625 exon3 c.3084-82G>C Uncertain 14_59978366_-->TG 14 59978366 59978366 - TG indel 3554.73 1/1 99 71 0 71 1.0 intronic rs10635523 CCDC175 AU NM_001164399 exon3 c.6521-111insTG 0.976238 1 Uncertain 14_60004844_C->T 14 60004844 60004844 C T snp 2011.77 1/1 99 74 0 74 1.0 exonic rs4261431 CCDC175 AU nonsynonymous SNV NM_001164399 exon13 c.G1520A p.G507E 0.531749 0.8165 0.507227 0.5502 0.7988 1 T 0.0 P -0.966 T Pathogenic 14_60031996_G->A 14 60031996 60031996 G A snp 3440.77 1/1 99 125 0 125 1.0 splicing rs1980580 CCDC175 AU NM_001164399 exon16 c.60037+3G>A 0.464856 0.8095 0.418747 0.4942 0.8006 Pathogenic 14_60032046_A->G 14 60032046 60032046 A G snp 1994.77 1/1 99 67 0 67 1.0 intronic rs1980579 CCDC175 AU NM_001164399 exon16 c.60037+53A>G 0.535543 0.8145 Uncertain 14_60034840_G->C 14 60034840 60034840 G C snp 1199.77 1/1 87 38 0 38 1.0 intronic rs982862 CCDC175 AU NM_001164399 exon17 c.63006-122G>C 0.936102 1 Uncertain 14_60043422_A->G 14 60043422 60043422 A G snp 751.77 1/1 54 27 0 27 1.0 exonic rs4898996 CCDC175 AU synonymous SNV NM_001164399 exon1 c.T72C p.T24T 0.935304 1 0.898598 0.9408 1 Uncertain 14_60063415_C->T 14 60063415 60063415 C T snp 900.77 0/1 99 93 49 44 0.47 UTR3 rs201914035 RTN1 AU 0.000399361 0.002 0.0003 0.0038 Uncertain 14_60063472_A->G 14 60063472 60063472 A G snp 2891.77 1/1 99 109 0 109 1.0 exonic rs6573275 RTN1 AU synonymous SNV NM_206852 exon7 c.T618C p.H206H 0.979433 1 0.977241 0.9937 1 Uncertain 14_60071972_T->C 14 60071972 60071972 T C snp 676.77 1/1 51 23 0 23 1.0 intronic rs1950787 RTN1 AU NM_021136 exon5 c.8623-113T>C 0.485024 0.8343 Uncertain 14_60072023_G->A 14 60072023 60072023 G A snp 2428.77 1/1 99 85 0 85 1.0 intronic rs1950786 RTN1 AU NM_021136 exon5 c.8623-62G>A 0.888578 0.996 Uncertain 14_60394828_G->T 14 60394828 60394828 G T snp 1048.77 1/1 75 37 0 37 1.0 ncRNA_intronic rs9323357 LRRC9 AU 0.613618 0.6567 Uncertain 14_60405385_G->A 14 60405385 60405385 G A snp 430.77 1/1 33 13 0 13 1.0 ncRNA_intronic rs34650525 LRRC9 AU 0.498403 0.6081 Uncertain 14_60411585_CA->- 14 60411585 60411586 CA - indel 218.8 1/1 18 9 0 9 1.0 ncRNA_intronic rs3069510 LRRC9 AU Uncertain 14_60426771_T->C 14 60426771 60426771 T C snp 517.77 1/1 39 16 0 16 1.0 ncRNA_intronic rs150683 LRRC9 AU 0.521565 0.6617 0.3845 0.7073 Uncertain 14_60444652_A->T 14 60444652 60444652 A T snp 395.77 1/1 30 15 0 15 1.0 ncRNA_intronic rs219328 LRRC9 AU 0.649361 0.6399 Uncertain 14_60451770_G->A 14 60451770 60451770 G A snp 312.78 1/1 24 10 0 10 1.0 ncRNA_intronic rs219341 LRRC9 AU 0.649361 0.6399 Uncertain 14_60451816_G->A 14 60451816 60451816 G A snp 675.77 1/1 51 23 0 23 1.0 ncRNA_intronic rs219342 LRRC9 AU 0.649361 0.6399 0.7586 0.6546 Uncertain 14_60452152_A->G 14 60452152 60452152 A G snp 50.74 1/1 6 2 0 2 1.0 ncRNA_intronic rs219343 LRRC9 AU 0.663738 0.6925 Uncertain 14_60468661_C->T 14 60468661 60468661 C T snp 908.77 1/1 66 30 0 30 1.0 ncRNA_intronic rs219369 LRRC9 AU 0.64976 0.6399 0.7623 0.6615 Uncertain 14_60483598_C->T 14 60483598 60483598 C T snp 96.28 1/1 9 3 0 3 1.0 ncRNA_intronic rs219388 LRRC9 AU 0.651158 0.6399 Uncertain 14_60484865_G->T 14 60484865 60484865 G T snp 50.74 1/1 6 2 0 2 1.0 ncRNA_intronic rs219390 LRRC9 AU 0.642372 0.6399 Uncertain 14_60484931_C->T 14 60484931 60484931 C T snp 232.84 1/1 18 9 0 9 1.0 ncRNA_intronic rs219391 LRRC9 AU 0.650958 0.6399 Uncertain 14_60485240_G->A 14 60485240 60485240 G A snp 433.77 1/1 33 15 0 15 1.0 ncRNA_intronic rs219392 LRRC9 AU 0.642372 0.6399 0.7375 0.6562 Uncertain 14_60498876_C->T 14 60498876 60498876 C T snp 95.28 1/1 9 4 0 4 1.0 ncRNA_intronic rs219409 LRRC9 AU 0.801318 0.879 Uncertain 14_60519920_C->T 14 60519920 60519920 C T snp 2207.77 1/1 99 82 0 82 1.0 ncRNA_exonic rs95425 LRRC9 AU 0.66234 0.6925 0.7299 0.7062 Uncertain 14_60574539_A->G 14 60574539 60574539 A G snp 5764.77 1/1 99 202 1 201 1.0 intronic rs12465 PCNXL4 AU 0.821286 0.8938 0.869027 0.8744 0.9131 Uncertain 14_60581674_T->- 14 60581674 60581674 T - indel 1732.73 1/1 99 71 4 67 0.94 intronic rs35459418 PCNXL4 AU NM_022495 exon3 c.261-17delT 0.834284 0.8661 0.9070 Uncertain 14_60581863_G->A 14 60581863 60581863 G A snp 7259.77 1/1 99 249 0 249 1.0 exonic rs219314 PCNXL4 AU synonymous SNV NM_022495 exon3 c.G339A p.P113P 0.692292 0.7232 0.777872 0.8323 0.7682 Uncertain 14_60581935_C->T 14 60581935 60581935 C T snp 7459.77 1/1 99 250 0 250 1.0 exonic rs150687 PCNXL4 AU synonymous SNV NM_022495 exon3 c.C411T p.S137S 0.810503 0.8938 0.856575 0.8706 0.9125 Uncertain 14_60582053_G->A 14 60582053 60582053 G A snp 5201.77 1/1 99 172 0 172 1.0 exonic rs150688 PCNXL4 AU nonsynonymous SNV NM_022495 exon3 c.G529A p.V177I 0.651358 0.6548 0.744751 0.7938 0.6911 0.28 T 0.994 P -1.057 T 0.01 T 0.002 T Pathogenic 14_60622566_A->G 14 60622566 60622566 A G snp 135.03 1/1 12 4 0 4 1.0 intronic rs17097088 DHRS7 AU NM_016029 exon6 c.11034-151A>G 0.228634 0.4484 Uncertain 14_60756762_-->T 14 60756762 60756762 - T indel 214.73 0/1 81 21 4 17 0.81 intronic rs77032119 PPM1A AU NM_021003 exon4 c.7211+130insT 0.0247604 0.1151 Uncertain 14_60864583_G->T 14 60864583 60864583 G T snp 2794.77 1/1 99 100 0 100 1.0 intergenic rs1254293 PPM1A AU 0.454673 0.6944 0.3474 0.6804 Uncertain 14_60866165_A->G 14 60866165 60866165 A G snp 216.8 1/1 21 9 0 9 1.0 intergenic rs56259273 PPM1A AU 0.45647 0.6964 Uncertain 14_60900113_C->T 14 60900113 60900113 C T snp 1483.77 1/1 99 55 0 55 1.0 intergenic rs1254316 PPM1A AU 0.455272 0.6964 0.4009 0.7576 Uncertain 14_60903757_G->A 14 60903757 60903757 G A snp 685.77 1/1 51 24 0 24 1.0 exonic rs1254319 C14orf39 AU nonsynonymous SNV NM_174978 exon18 c.C1570T p.L524F 0.466853 0.6944 0.362658 0.3565 0.6808 1 T 0.039 P -0.940 T 0.0 T 0.0 T ID=CM140045;DIS=Genome-wide recombination rate, association with;TAG=FP;PUB=24270358 FP Pathogenic 14_60921673_T->C 14 60921673 60921673 T C snp 551.77 1/1 42 18 0 18 1.0 intronic rs1262175 C14orf39 AU NM_174978 exon3 c.18156-45T>C 0.998003 0.9931 0.999455 0.9996 0.9968 Uncertain 14_60923783_C->T 14 60923783 60923783 C T snp 348.77 0/1 99 39 23 16 0.41 exonic rs11625921 C14orf39 AU nonsynonymous SNV NM_174978 exon15 c.G1210A p.V404I 0.904353 0.878 0.979849 0.9426 0.8710 1 T 0.0 P -1.000 T 0.0 T 0.0 T Pathogenic 14_60928201_G->A 14 60928201 60928201 G A snp 366.77 0/1 99 32 17 15 0.47 intronic rs1956549 C14orf39 AU NM_174978 exon7 c.24663-24G>A 0.766174 0.8532 0.816175 0.8648 0.8472 Uncertain 14_60932569_-->AC 14 60932569 60932569 - AC indel 1320.73 ./1 99 14 2 12 0.86 intronic rs58582626 C14orf39 AU NM_174978 exon8 c.29134-127insAC Uncertain 14_60932570_ACACACACACACACACACACAC->- 14 60932570 60932591 ACACACACACACACACACACAC - indel 1320.73 ./1 99 14 2 12 0.86 intronic rs10529202 C14orf39 AU NM_174978 exon8 c.29134-126_29134-105delACACACACACACACACACACAC Uncertain 14_60932752_G->A 14 60932752 60932752 G A snp 244.77 0/1 99 28 16 12 0.43 exonic rs12586711 C14orf39 AU nonsynonymous SNV NM_174978 exon11 c.C917T p.A306V 0.215455 0.5516 0.165128 0.2158 0.5364 0.6 T 0.0 P -0.924 T 0.0 T 0.0 T Pathogenic 14_60933539_T->C 14 60933539 60933539 T C snp 305.77 0/1 99 24 12 12 0.5 intronic rs1126103 C14orf39 AU NM_174978 exon9 c.30072-95T>C 0.216054 0.5526 Uncertain 14_60944959_A->G 14 60944959 60944959 A G snp 92.77 0/1 99 17 12 5 0.29 intronic rs11845369 C14orf39 AU NM_174978 exon14 c.41455-58A>G 0.761581 0.8562 Uncertain 14_60975956_T->C 14 60975956 60975956 T C snp 421.77 0/1 99 37 17 20 0.54 UTR5 rs1956558 SIX6 AR 0.82488 0.877 Uncertain 14_60978071_C->G 14 60978071 60978071 C G snp 866.77 0/1 99 40 12 28 0.7 UTR3 rs1061108 SIX6 AR 0.803315 0.8323 Uncertain 14_61118783_C->T 14 61118783 61118783 C T snp 322.77 0/1 99 39 26 13 0.33 intergenic rs4899014 SIX1 AD 0.777157 0.8194 Uncertain 14_61124940_A->G 14 61124940 61124940 A G snp 2054.77 0/1 99 173 83 90 0.52 intergenic rs10143202 SIX1 AD 0.798323 0.8204 0.7947 0.8060 Uncertain 14_61125071_C->G 14 61125071 61125071 C G snp 213.77 0/1 99 21 10 11 0.52 intergenic rs186390212 SIX1 AD Uncertain 14_61180657_T->G 14 61180657 61180657 T G snp 1166.77 0/1 99 111 63 48 0.43 exonic rs3742636 SIX4 AU nonsynonymous SNV NM_017420 exon3 c.A1814C p.H605P 0.645168 0.6558 0.656389 0.6868 0.6420 0.11 T 1.0 P -0.903 T 0.838 T 0.367 P Pathogenic 14_61247189_A->G 14 61247189 61247189 A G snp 847.77 1/1 63 27 0 27 1.0 intronic rs4151185 MNAT1 AU NM_002431 exon2 c.61354-15745A>G 0.867412 0.8194 Uncertain 14_61278684_A->G 14 61278684 61278684 A G snp 506.77 0/1 99 42 23 19 0.45 intronic rs2020892 MNAT1 AU NM_002431 exon5 c.77124-20A>G 0.234425 0.1111 0.239365 0.3168 0.0960 Uncertain 14_61285352_A->G 14 61285352 61285352 A G snp 331.77 0/1 99 24 12 12 0.5 intronic rs973063 MNAT1 AU NM_002431 exon6 c.83859-87A>G 0.383187 0.2609 Uncertain 14_61445967_A->G 14 61445967 61445967 A G snp 4023.77 1/1 99 152 0 152 1.0 exonic rs7142228 TRMT5 AR nonsynonymous SNV NM_020810 exon2 c.T649C p.S217P 1 1 1.0000 1 1 T 0.001 P -0.957 T 0.0 T 0.0 T Pathogenic 14_61448510_A->G 14 61448510 61448510 A G snp 1032.77 1/1 75 32 0 32 1.0 intronic rs2296924 SLC38A6 AU NM_001172702 exon1 c.105+410A>G 0.834265 0.7907 Uncertain 14_61449167_T->C 14 61449167 61449167 T C snp 1176.77 1/1 90 35 0 35 1.0 intronic rs2296923 SLC38A6 AU NM_001172702 exon2 c.1230-58T>C 0.84365 0.7659 Uncertain 14_61449328_T->A 14 61449328 61449328 T A snp 3270.77 1/1 99 124 1 123 0.99 exonic rs976272 SLC38A6 AU nonsynonymous SNV NM_001172702 exon2 c.T208A p.L70M 0.84365 0.7659 0.946179 0.9185 0.7798 1 T 0.000 P -1.020 T 0.012 T 0.012 T Pathogenic 14_61451329_G->A 14 61451329 61451329 G A snp 1226.77 1/1 90 41 0 41 1.0 intronic rs2182985 SLC38A6 AU NM_001172702 exon3 c.3452-118G>A 0.842053 0.7629 Uncertain 14_61451589_C->T 14 61451589 61451589 C T snp 803.77 1/1 60 22 0 22 1.0 intronic rs2149303 SLC38A6 AU NM_001172702 exon3 c.3526+68C>T 0.841853 0.7629 Uncertain 14_61453739_-->T 14 61453739 61453739 - T indel 4000.73 1/1 99 100 0 100 1.0 intronic rs33922839 SLC38A6 AU NM_001172702 exon3 c.3526+2218insT 0.785942 0.7639 0.7924 0.7955 Uncertain 14_61453942_C->T 14 61453942 61453942 C T snp 141.77 0/1 99 14 8 6 0.43 intronic rs12891495 SLC38A6 AU NM_001172702 exon3 c.3526+2421C>T 0.163339 0.3839 Uncertain 14_61482427_A->G 14 61482427 61482427 A G snp 281.28 0/1 9 9 1 8 0.89 intronic rs6573352 SLC38A6 AU NM_001172702 exon4 c.34626-194A>G 0.843051 0.7669 Uncertain 14_61482428_G->C 14 61482428 61482428 G C snp 282.98 0/1 13 9 1 8 0.89 intronic rs6573353 SLC38A6 AU NM_001172702 exon4 c.34626-193G>C 0.843051 0.7669 Uncertain 14_61497058_T->C 14 61497058 61497058 T C snp 48.74 1/1 6 2 0 2 1.0 intronic rs1465147 SLC38A6 AU NM_001172702 exon6 c.49167-104T>C 0.609625 0.5774 Uncertain 14_61497147_A->T 14 61497147 61497147 A T snp 411.77 1/1 30 17 0 17 1.0 intronic rs1465146 SLC38A6 AU NM_001172702 exon6 c.49167-15A>T 0.997204 1 0.997074 0.9991 1 Uncertain 14_61497285_T->C 14 61497285 61497285 T C snp 1115.77 1/1 78 45 0 45 1.0 intronic rs1465145 SLC38A6 AU NM_001172702 exon6 c.49246+44T>C 0.997404 1 0.997458 0.9993 1 Uncertain 14_61509924_T->C 14 61509924 61509924 T C snp 909.78 1/1 27 38 2 36 0.95 exonic rs2296921 SLC38A6 AU synonymous SNV NM_001172702 exon9 c.T684C p.G228G 0.842851 0.7669 0.946059 0.9187 0.7849 0.998 P -1.023 T Likely benign 14_61643045_C->A 14 61643045 61643045 C A snp 1240.77 0/1 99 205 139 66 0.32 intergenic rs4902033 SLC38A6 AU 0.440895 0.5149 0.434252 0.4674 0.5005 Uncertain 14_61747644_A->G 14 61747644 61747644 A G snp 5411.77 1/1 99 185 0 185 1.0 exonic rs3196765 TMEM30B AU synonymous SNV NM_001017970 exon1 c.T222C p.G74G 0.779752 0.8591 0.814506 0.8496 0.8579 Uncertain 14_61789318_C->G 14 61789318 61789318 C G snp 833.77 1/1 63 23 0 23 1.0 intronic rs1886466 PRKCH AO NM_006255 exon1 c.363+136C>G 1 1 Uncertain 14_61857969_A->G 14 61857969 61857969 A G snp 1978.77 1/1 99 73 0 73 1.0 exonic rs2230499 PRKCH AO synonymous SNV NM_006255 exon2 c.A390G p.V130V 0.277556 0.248 0.243119 0.1987 0.2224 Uncertain 14_61915751_G->A 14 61915751 61915751 G A snp 2364.77 1/1 99 70 0 70 1.0 intronic rs2296273 PRKCH AO NM_006255 exon5 c.127062-130G>A 0.560503 0.7321 Uncertain 14_61952124_G->C 14 61952124 61952124 G C snp 48.74 1/1 6 2 0 2 1.0 intronic rs2251380 PRKCH AO NM_006255 exon10 c.163400-95G>C 0.848442 0.9206 Uncertain 14_61952133_A->G 14 61952133 61952133 A G snp 174.9 1/1 15 5 0 5 1.0 intronic rs2251382 PRKCH AO NM_006255 exon10 c.163400-86A>G 0.848442 0.9206 Uncertain 14_61952429_T->C 14 61952429 61952429 T C snp 5512.77 1/1 99 202 0 202 1.0 intronic rs1536016 PRKCH AO NM_006255 exon10 c.163555+55T>C 0.875599 0.9206 Uncertain 14_61995673_C->T 14 61995673 61995673 C T snp 56.74 1/1 6 2 0 2 1.0 intronic rs2463117 PRKCH AO NM_006255 exon11 c.206973-119C>T 0.563698 0.6141 Uncertain 14_61997226_C->T 14 61997226 61997226 C T snp 3081.77 1/1 99 110 0 110 1.0 exonic rs1088680 PRKCH AO synonymous SNV NM_006255 exon12 c.C1674T p.N558N 0.669329 0.6657 0.707827 0.7984 0.6652 1.0 P -1.013 T Likely benign 14_61997393_T->C 14 61997393 61997393 T C snp 1350.77 1/1 96 52 0 52 1.0 intronic rs1088679 PRKCH AO NM_006255 exon12 c.208494+80T>C 0.777157 0.9335 Uncertain 14_62014289_T->A 14 62014289 62014289 T A snp 42.77 0/1 31 3 1 2 0.67 intronic rs2184633 PRKCH AO NM_006255 exon13 c.225641-171T>A 0.41853 0.3145 Uncertain 14_62037297_C->A 14 62037297 62037297 C A snp 288.77 0/1 99 25 14 11 0.44 ncRNA_exonic rs798792 FLJ22447 AU 0.902955 0.8998 Uncertain 14_62037584_C->T 14 62037584 62037584 C T snp 388.77 0/1 99 23 7 16 0.7 ncRNA_intronic rs60214396 FLJ22447 AU 0.0543131 0.1002 Uncertain 14_62120575_C->T 14 62120575 62120575 C T snp 192.77 0/1 99 10 4 6 0.6 ncRNA_exonic rs698028 FLJ22447 AU 0.514177 0.6448 Uncertain 14_62124514_G->T 14 62124514 62124514 G T snp 448.77 1/1 36 12 0 12 1.0 intergenic rs698026 FLJ22447 AU 0.723043 0.8859 Uncertain 14_62205175_T->C 14 62205175 62205175 T C snp 929.77 1/1 69 26 0 26 1.0 intronic rs10138153 HIF1A AU NM_181054 exon10 c.42569+84T>C 0.935304 0.9851 Uncertain 14_62208005_T->C 14 62208005 62208005 T C snp 113.77 0/1 99 10 5 5 0.5 intronic rs4902080 HIF1A AU NM_181054 exon12 c.45384+99T>C 0.81889 0.8433 Uncertain 14_62212675_C->T 14 62212675 62212675 C T snp 37.77 0/1 66 4 2 2 0.5 intronic rs4902082 HIF1A AU NM_001243084 exon14 c.47967+140C>T 0.585264 0.7758 Uncertain 14_62213848_T->C 14 62213848 62213848 T C snp 690.77 0/1 99 68 40 28 0.41 ncRNA_exonic rs2057482 HIF1A-AS2 AU 0.757588 0.8006 0.786176 0.8289 0.8056 Uncertain 14_62213929_-->T 14 62213929 62213929 - T indel 260.73 0/1 99 15 4 11 0.73 ncRNA_exonic rs397897404 HIF1A-AS2 AU 0.76258 0.8006 Uncertain 14_62233806_A->G 14 62233806 62233806 A G snp 459.77 1/1 36 13 0 13 1.0 intronic rs1254677 SNAPC1 AU NM_003082 exon2 c.4575+53A>G 0.488618 0.5764 Uncertain 14_62462766_T->C 14 62462766 62462766 T C snp 1854.77 1/1 99 66 0 66 1.0 exonic rs8019076 SYT16 AU nonsynonymous SNV NM_031914 exon1 c.T29C p.V10A 0.792332 0.7956 0.798804 0.7482 0.7720 1 T 0.0 P -0.973 T 0.0 T 0.0 T Pathogenic 14_62463129_G->T 14 62463129 62463129 G T snp 5247.77 1/1 99 178 0 178 1.0 exonic rs17099370 SYT16 AU nonsynonymous SNV NM_031914 exon1 c.G392T p.R131L 0.241214 0.5446 0.154019 0.2318 0.5243 0.68 T 0.0 P -0.932 T 0.0 T 0.002 T Pathogenic 14_62463214_C->T 14 62463214 62463214 C T snp 4113.77 1/1 99 139 0 139 1.0 exonic rs1889806 SYT16 AU synonymous SNV NM_031914 exon1 c.C477T p.D159D 0.560304 0.749 0.456478 0.4684 0.7383 Uncertain 14_62550877_G->A 14 62550877 62550877 G A snp 894.77 1/1 66 31 0 31 1.0 intronic rs2353778 SYT16 AU NM_031914 exon5 c.88176-36G>A 0.520567 0.5129 0.483333 0.5640 0.5113 Uncertain 14_63174616_T->C 14 63174616 63174616 T C snp 6865.77 1/1 99 250 0 250 1.0 exonic rs7161127 KCNH5 AU synonymous SNV NM_139318 exon11 c.A2577G p.R859R 0.924321 1 0.927264 0.9720 0.9998 Uncertain 14_63179333_C->T 14 63179333 63179333 C T snp 2092.77 0/1 99 201 110 91 0.45 intronic rs12435381 KCNH5 AU NM_139318 exon1 c.948+4160C>T 0.351238 0.4167 0.306395 Uncertain 14_63179593_T->C 14 63179593 63179593 T C snp 251.8 1/1 21 7 0 7 1.0 intronic rs2171877 KCNH5 AU NM_139318 exon1 c.948+4420T>C 0.923323 1 Uncertain 14_63269317_T->C 14 63269317 63269317 T C snp 1202.77 0/1 99 106 51 55 0.52 intronic rs12588427 KCNH5 AU NM_139318 exon3 c.95074+18T>C 0.486621 0.6875 0.373059 0.4656 0.6691 Uncertain 14_63417286_A->- 14 63417286 63417286 A - indel 123.73 0/1 99 28 12 16 0.57 intronic rs556679499 KCNH5 AU NM_139318 exon5 c.243052+9delA 0.000998403 0.4643 0.4725 Uncertain 14_63453773_A->G 14 63453773 63453773 A G snp 4805.77 1/1 99 175 1 174 0.99 intronic rs1950975 KCNH5 AU NM_139318 exon7 c.279564-16A>G 0.429113 0.5754 0.364349 0.2685 0.5931 Uncertain 14_63747634_T->C 14 63747634 63747634 T C snp 904.77 0/1 99 77 43 34 0.44 intronic rs7146249 RHOJ AU NM_020663 exon3 c.76101-54T>C 0.347644 0.3978 Uncertain 14_63749824_G->A 14 63749824 63749824 G A snp 2660.77 0/1 99 250 139 111 0.44 intronic rs2273181 RHOJ AU NM_020663 exon4 c.78251-14G>A 0.0561102 0.119 0.038290 0.0242 0.1013 Uncertain 14_63779846_-->A 14 63779846 63779846 - A indel 1095.73 0/1 99 86 47 39 0.45 intronic rs397710669 GPHB5 AU NM_145171 exon1 c.189+16insA 0.691294 0.5784 0.687369 0.7667 0.6329 Uncertain 14_63784407_-->G 14 63784407 63784407 - G indel 6214.73 1/1 99 149 0 149 1.0 exonic rs11382440 GPHB5 AU unknown 1 1 0.999832 1 1 Uncertain 14_63843008_G->A 14 63843008 63843008 G A snp 44.77 0/1 33 3 1 2 0.67 intronic rs117466761 PPP2R5E AU NM_001282182 exon1 c.100+182G>A 0.028754 0.1359 Uncertain 14_63848647_T->C 14 63848647 63848647 T C snp 795.77 1/1 60 27 0 27 1.0 intronic rs10146129 PPP2R5E AU NM_001282182 exon2 c.6047-126T>C 0.411342 0.5427 Uncertain 14_63851359_T->C 14 63851359 63851359 T C snp 277.8 1/1 21 11 0 11 1.0 intronic rs12433884 PPP2R5E AU NM_001282182 exon3 c.8563+70T>C 0.270567 0.5 Uncertain 14_63851397_T->- 14 63851397 63851397 T - indel 174.87 1/1 15 8 0 8 1.0 intronic rs398099406 PPP2R5E AU NM_001282182 exon3 c.8563+108delT 0.116613 0.254 Uncertain 14_63856490_-->A 14 63856490 63856490 - A indel 412.73 0/1 99 35 16 19 0.54 intronic rs777502372 PPP2R5E AU NM_001282182 exon4 c.13723+41insA 4.883e-05 0.0004 Uncertain 14_63856650_G->A 14 63856650 63856650 G A snp 99.28 1/1 9 3 0 3 1.0 intronic rs10142991 PPP2R5E AU NM_001282182 exon4 c.13723+201G>A 0.24381 0.494 Uncertain 14_63860436_C->A 14 63860436 63860436 C A snp 48.74 1/1 6 2 0 2 1.0 intronic rs11158489 PPP2R5E AU NM_001282182 exon7 c.17811-101C>A 0.401158 0.5218 Uncertain 14_63862106_GAG->- 14 63862106 63862108 GAG - indel 336.77 1/1 21 12 0 12 1.0 intronic rs145804439 PPP2R5E AU NM_001282182 exon8 c.19277+103_19277+105delGAG 0.234625 0.4514 Uncertain 14_63862150_G->A 14 63862150 63862150 G A snp 178.9 1/1 15 6 0 6 1.0 intronic rs61995000 PPP2R5E AU NM_001282182 exon8 c.19277+147G>A 0.114217 0.255 Uncertain 14_63863606_G->A 14 63863606 63863606 G A snp 336.77 0/1 99 16 5 11 0.69 intronic rs192445512 PPP2R5E AU NM_001282182 exon9 c.20708+172G>A 0.028754 0.1359 Uncertain 14_63863607_A->G 14 63863607 63863607 A G snp 340.77 0/1 99 15 5 10 0.67 intronic rs185661132 PPP2R5E AU NM_001282182 exon9 c.20708+173A>G 0.0283546 0.1339 Uncertain 14_64066289_A->G 14 64066289 64066289 A G snp 52.77 0/1 81 196 182 14 0.07 exonic WDR89 AU synonymous SNV NM_001258272 exon3 c.T372C p.N124N Uncertain 14_64066302_C->T 14 64066302 64066302 C T snp 244.77 0/1 99 211 191 20 0.09 exonic WDR89 AU nonsynonymous SNV NM_001258272 exon3 c.G359A p.S120N 0.01 T 1.000 D 0.030 D 1.0 D 0.982 D Pathogenic 14_64066303_T->G 14 64066303 64066303 T G snp 245.77 0/1 99 210 190 20 0.1 exonic WDR89 AU nonsynonymous SNV NM_001258272 exon3 c.A358C p.S120R 0.02 T 1.000 D 0.036 D 1.0 D 0.982 D Pathogenic 14_64066326_C->T 14 64066326 64066326 C T snp 509.77 0/1 99 250 211 39 0.16 exonic rs201238690 WDR89 AU nonsynonymous SNV NM_001258272 exon3 c.G335A p.G112D 8.27e-06 0 0.13 T 1.000 D -0.320 T 0.999 D 0.96 D Pathogenic 14_64066328_C->T 14 64066328 64066328 C T snp 549.77 0/1 99 250 211 39 0.16 exonic rs766626787 WDR89 AU synonymous SNV NM_001258272 exon3 c.G333A p.K111K 8.27e-06 0 Uncertain 14_64066340_A->G 14 64066340 64066340 A G snp 676.77 0/1 99 250 206 44 0.18 exonic WDR89 AU synonymous SNV NM_001258272 exon3 c.T321C p.V107V Uncertain 14_64066352_T->A 14 64066352 64066352 T A snp 671.77 0/1 99 249 205 44 0.18 exonic WDR89 AU nonsynonymous SNV NM_001258272 exon3 c.A309T p.R103S 1 T 1 N -0.992 T 0.0 T 0.0 T Pathogenic 14_64066363_G->A 14 64066363 64066363 G A snp 748.77 0/1 99 250 203 47 0.19 exonic WDR89 AU stopgain NM_001258272 exon3 c.C298T p.R100X 1 T 1 D Pathogenic 14_64066367_A->T 14 64066367 64066367 A T snp 725.77 0/1 99 250 207 43 0.17 exonic WDR89 AU nonsynonymous SNV NM_001258272 exon3 c.T294A p.D98E 0.03 T 1.000 D -0.529 T 0.974 D 0.695 D Pathogenic 14_64066373_G->A 14 64066373 64066373 G A snp 643.77 0/1 99 249 208 41 0.16 exonic WDR89 AU synonymous SNV NM_001258272 exon3 c.C288T p.C96C Uncertain 14_64066379_C->T 14 64066379 64066379 C T snp 607.77 0/1 99 249 209 40 0.16 exonic rs117229690 WDR89 AU synonymous SNV NM_001258272 exon3 c.G282A p.V94V 0.000308 9.082e-05 0 Uncertain 14_64066394_A->G 14 64066394 64066394 A G snp 551.77 0/1 99 250 211 39 0.16 exonic WDR89 AU synonymous SNV NM_001258272 exon3 c.T267C p.C89C Uncertain 14_64066395_C->T 14 64066395 64066395 C T snp 546.77 0/1 99 250 211 39 0.16 exonic WDR89 AU nonsynonymous SNV NM_001258272 exon3 c.G266A p.C89Y 0.02 T 0.999 D -0.360 T 0.99 D 0.876 D Pathogenic 14_64066398_G->C 14 64066398 64066398 G C snp 524.77 0/1 99 250 211 39 0.16 exonic WDR89 AU nonsynonymous SNV NM_001258272 exon3 c.C263G p.A88G 0.79 T 0.998 D -1.028 T 0.039 T 0.027 T Pathogenic 14_64066402_A->G 14 64066402 64066402 A G snp 517.77 0/1 99 250 211 39 0.16 exonic WDR89 AU nonsynonymous SNV NM_001258272 exon3 c.T259C p.S87P 0 D 1.000 D 0.642 D 1.0 D 0.999 D Pathogenic 14_64066424_T->C 14 64066424 64066424 T C snp 523.77 0/1 99 249 211 38 0.15 exonic rs200323309 WDR89 AU synonymous SNV NM_001258272 exon3 c.A237G p.A79A Uncertain 14_64066431_C->T 14 64066431 64066431 C T snp 532.77 0/1 99 250 213 37 0.15 exonic rs75569502 WDR89 AU nonsynonymous SNV NM_001258272 exon3 c.G230A p.R77K 1 T 1 N -0.966 T 0.0 T 0.001 T Pathogenic 14_64066451_A->G 14 64066451 64066451 A G snp 345.77 0/1 99 244 213 31 0.13 exonic rs779248521 WDR89 AU synonymous SNV NM_001258272 exon3 c.T210C p.P70P 4.957e-05 0 Uncertain 14_64066453_G->A 14 64066453 64066453 G A snp 329.77 0/1 99 248 217 31 0.13 exonic rs74383752 WDR89 AU nonsynonymous SNV NM_001258272 exon3 c.C208T p.P70S 0.75 T 0.999 D -1.031 T 0.489 P 0.176 P Pathogenic 14_64066471_G->A 14 64066471 64066471 G A snp 187.77 0/1 99 250 222 28 0.11 exonic rs200681506 WDR89 AU stopgain NM_001258272 exon3 c.C190T p.R64X 1.655e-05 0 0.48 T 1 D Pathogenic 14_64066472_T->G 14 64066472 64066472 T G snp 178.77 0/1 99 250 224 26 0.1 exonic WDR89 AU synonymous SNV NM_001258272 exon3 c.A189C p.L63L Uncertain 14_64066484_C->T 14 64066484 64066484 C T snp 120.77 0/1 99 244 220 24 0.1 exonic WDR89 AU synonymous SNV NM_001258272 exon3 c.G177A p.R59R Uncertain 14_64375985_G->T 14 64375985 64375985 G T snp 1175.77 0/1 99 121 69 52 0.43 intronic rs2275018 SYNE2 AD NM_015180 exon2 c.79+40G>T 0.621206 0.4782 0.648999 0.6805 0.4903 Uncertain 14_64421392_G->A 14 64421392 64421392 G A snp 894.77 0/1 99 59 24 35 0.59 ncRNA_intronic rs1255874 MIR548AZ AU 0.672923 0.5982 0.675545 0.7082 0.6200 Uncertain 14_64423187_C->A 14 64423187 64423187 C A snp 1513.77 0/1 99 140 68 72 0.51 ncRNA_intronic rs2792201 MIR548AZ AU 0.68151 0.6141 0.7384 0.6414 Uncertain 14_64428154_A->G 14 64428154 64428154 A G snp 813.77 0/1 99 59 28 31 0.53 ncRNA_intronic rs1255884 MIR548AZ AU 0.577077 0.5764 Uncertain 14_64434652_G->A 14 64434652 64434652 G A snp 355.77 0/1 99 24 13 11 0.46 ncRNA_intronic rs1255891 MIR548AZ AU 0.311302 0.373 Uncertain 14_64444876_G->A 14 64444876 64444876 G A snp 622.77 0/1 99 36 16 20 0.56 ncRNA_intronic rs1255896 MIR548AZ AU 0.288139 0.3571 Uncertain 14_64457079_G->A 14 64457079 64457079 G A snp 159.77 0/1 99 19 13 6 0.32 ncRNA_intronic rs1255907 MIR548AZ AU 0.548522 0.5387 0.525778 0.4727 0.5332 Uncertain 14_64457638_T->G 14 64457638 64457638 T G snp 441.77 0/1 99 36 18 18 0.5 ncRNA_intronic rs1255908 MIR548AZ AU 0.297724 0.3631 0.320289 0.2919 0.3645 Uncertain 14_64462007_A->C 14 64462007 64462007 A C snp 622.77 0/1 99 40 15 25 0.63 ncRNA_intronic rs1255912 MIR548AZ AU 0.548323 0.5397 Uncertain 14_64462071_G->T 14 64462071 64462071 G T snp 152.77 0/1 97 9 3 6 0.67 ncRNA_intronic rs1255913 MIR548AZ AU 0.396965 0.4058 Uncertain 14_64464236_C->A 14 64464236 64464236 C A snp 339.77 0/1 99 18 6 12 0.67 ncRNA_intronic rs8009321 MIR548AZ AU 0.286741 0.3601 Uncertain 14_64468918_G->A 14 64468918 64468918 G A snp 43.77 0/1 72 6 3 3 0.5 ncRNA_intronic rs12147217 MIR548AZ AU 0.361621 0.4087 Uncertain 14_64470160_CT->- 14 64470160 64470161 CT - indel 924.73 0/1 99 53 24 29 0.55 ncRNA_intronic rs397819298 MIR548AZ AU 0.261781 0.3601 Uncertain 14_64491695_T->C 14 64491695 64491695 T C snp 6215.77 1/1 99 230 0 230 1.0 exonic rs4902264 SYNE2 AD nonsynonymous SNV NM_182914 exon40 c.T5906C p.M1969T 0.678914 0.7837 0.740613 0.8118 0.7883 0.6 T 0.000 P -0.993 T 0.003 T 0.001 T CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000118541.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 14_64494278_C->T 14 64494278 64494278 C T snp 1632.77 1/1 99 54 0 54 1.0 exonic rs10151127 SYNE2 AD synonymous SNV NM_182914 exon43 c.C6481T p.L2161L 0.751997 0.8333 0.812404 0.8692 0.8353 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_multiple_submitters\x2c_no_conflicts;CLNACC=RCV000118543.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 14_64496749_C->T 14 64496749 64496749 C T snp 3334.77 1/1 99 126 0 126 1.0 exonic rs4027402 SYNE2 AD nonsynonymous SNV NM_182914 exon44 c.C6851T p.A2284V 0.671925 0.7768 0.741050 0.8122 0.7810 0.68 T 0.000 P -0.997 T 0.055 T 0.02 T CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000118544.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 14_64496872_G->C 14 64496872 64496872 G C snp 258.8 1/1 21 7 0 7 1.0 ncRNA_intronic rs3866737 MIR548AZ AU 0.854034 0.8532 Uncertain 14_64497930_G->A 14 64497930 64497930 G A snp 3469.77 1/1 99 123 0 123 1.0 exonic rs4027404 SYNE2 AD nonsynonymous SNV NM_182914 exon45 c.G7076A p.S2359N 0.702476 0.7798 0.768819 0.8209 0.7824 0.52 T 1.000 P -0.995 T 0.004 T 0.012 T CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000118548.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 14_64498037_G->A 14 64498037 64498037 G A snp 3485.77 1/1 99 127 0 127 1.0 exonic rs4027405 SYNE2 AD nonsynonymous SNV NM_182914 exon45 c.G7183A p.A2395T 0.83726 0.8522 0.878073 0.8924 0.8479 0.53 T 0.000 P -0.995 T 0.009 T 0.01 T CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000118551.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 14_64501192_G->A 14 64501192 64501192 G A snp 263.8 1/1 21 8 0 8 1.0 ncRNA_intronic rs9783605 MIR548AZ AU 0.74401 0.7808 0.8244 0.7540 Uncertain 14_64519035_A->G 14 64519035 64519035 A G snp 6130.77 1/1 99 215 1 214 1.0 exonic rs1890908 SYNE2 AD nonsynonymous SNV NM_182914 exon48 c.A8404G p.S2802G 0.861821 0.8532 0.912414 0.9068 0.8491 0.53 T 0.000 P -1.027 T 0.058 T 0.04 T CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000118553.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 14_64519455_A->G 14 64519455 64519455 A G snp 2601.77 1/1 99 87 0 87 1.0 exonic rs3829767 SYNE2 AD nonsynonymous SNV NM_182914 exon48 c.A8824G p.I2942V 0.665136 0.7778 0.722875 0.8031 0.7874 0.3 T 0.001 P -0.956 T 0.002 T 0.005 T CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000118556.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 14_64520416_G->A 14 64520416 64520416 G A snp 545.77 1/1 42 16 0 16 1.0 ncRNA_intronic rs10138253 MIR548AZ AU 0.677716 0.7778 0.740468 0.8092 0.7909 Uncertain 14_64522674_G->C 14 64522674 64522674 G C snp 3015.77 1/1 99 113 0 113 1.0 exonic rs8010911 SYNE2 AD nonsynonymous SNV NM_182914 exon49 c.G9757C p.D3253H 0.68131 0.7778 0.739990 0.8076 0.7868 0.15 T 1.000 P -1.079 T 0.343 T 0.445 T CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000118560.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 14_64522843_A->G 14 64522843 64522843 A G snp 2685.77 1/1 99 90 0 90 1.0 exonic rs8010699 SYNE2 AD nonsynonymous SNV NM_182914 exon49 c.A9926G p.H3309R 0.682308 0.7778 0.741305 0.8074 0.7873 0.35 T 0.007 P -1.049 T 0.039 T 0.043 T CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000118561.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 14_64532107_A->G 14 64532107 64532107 A G snp 1217.77 1/1 90 35 0 35 1.0 ncRNA_intronic rs1255972 MIR548AZ AU 0.680312 0.7778 0.738310 0.8122 0.7970 Uncertain 14_64537295_T->G 14 64537295 64537295 T G snp 221.84 1/1 18 7 0 7 1.0 ncRNA_intronic rs1255965 MIR548AZ AU 0.764377 0.8323 Uncertain 14_64537657_G->A 14 64537657 64537657 G A snp 1170.77 1/1 84 37 0 37 1.0 ncRNA_intronic rs1255964 MIR548AZ AU 0.868211 0.8532 0.913455 0.9103 0.8492 Uncertain 14_64542872_G->A 14 64542872 64542872 G A snp 221.84 1/1 18 7 0 7 1.0 ncRNA_intronic rs1255960 MIR548AZ AU 0.845647 0.8532 Uncertain 14_64551555_G->A 14 64551555 64551555 G A snp 141.03 1/1 12 4 0 4 1.0 ncRNA_intronic rs1255954 MIR548AZ AU 0.675519 0.8075 Uncertain 14_64551688_C->T 14 64551688 64551688 C T snp 1637.77 1/1 99 63 0 63 1.0 ncRNA_intronic rs1255953 MIR548AZ AU 0.680911 0.7431 0.7788 0.7045 0.38 T 0.0 P -0.982 T Uncertain 14_64560091_T->C 14 64560091 64560091 T C snp 754.77 0/1 99 70 40 30 0.43 exonic rs2792205 SYNE2 AD nonsynonymous SNV NM_182914 exon61 c.T12001C p.W4001R 0.123602 0.124 0.077656 0.0874 0.1161 0.32 T 1.0 P -1.081 T 0.001 T 0.0 T CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000118502.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 14_64560092_G->A 14 64560092 64560092 G A snp 761.77 0/1 99 70 40 30 0.43 exonic rs2781377 SYNE2 AD stopgain NM_182914 exon61 c.G12002A p.W4001X 0.122404 0.123 0.076657 0.0868 0.1139 0.23 T 1.000 P CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000118503.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 ID=CM152574;DIS=Psoriasis, association with;TAG=DP;PUB=25854761 DP Pathogenic 14_64564527_C->T 14 64564527 64564527 C T snp 34.77 0/1 63 8 6 2 0.25 ncRNA_intronic rs8007972 MIR548AZ AU 0.86262 0.8849 Uncertain 14_64565582_T->C 14 64565582 64565582 T C snp 534.77 0/1 99 48 23 25 0.52 ncRNA_intronic rs9323444 MIR548AZ AU 0.411342 0.5893 0.377672 0.4355 0.6119 Uncertain 14_64568797_G->A 14 64568797 64568797 G A snp 404.77 0/1 99 29 13 16 0.55 ncRNA_intronic rs12587140 MIR548AZ AU 0.141174 0.1409 0.109411 0.1037 0.1461 Uncertain 14_64574140_C->A 14 64574140 64574140 C A snp 1981.77 0/1 99 146 65 81 0.55 ncRNA_intronic rs10135310 MIR548AZ AU 0.206869 0.377 Uncertain 14_64591968_C->T 14 64591968 64591968 C T snp 1680.77 0/1 99 158 77 81 0.51 ncRNA_intronic rs9323446 MIR548AZ AU 0.196685 0.1369 0.172690 0.1339 0.1364 Uncertain 14_64598936_G->T 14 64598936 64598936 G T snp 80.77 0/1 69 5 2 3 0.6 ncRNA_intronic rs45472593 MIR548AZ AU 0.274561 0.1429 0.245267 0.1605 0.1423 Uncertain 14_64601042_A->G 14 64601042 64601042 A G snp 67.77 0/1 69 5 2 3 0.6 ncRNA_intronic rs11158531 MIR548AZ AU 0.153155 0.1399 Uncertain 14_64612845_C->T 14 64612845 64612845 C T snp 1035.77 0/1 99 92 44 48 0.52 exonic rs11629287 SYNE2 AD synonymous SNV NM_182914 exon84 c.C15543T p.I5181I 0.441893 0.504 0.406812 0.3709 0.5121 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000118519.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 14_64612858_C->A 14 64612858 64612858 C A snp 2692.77 1/1 99 104 0 104 1.0 exonic rs10151658 SYNE2 AD nonsynonymous SNV NM_182914 exon84 c.C15556A p.L5186M 0.631789 0.6429 0.577887 0.5031 0.6524 0.53 T 1.000 P -1.009 T 0.027 T 0.017 T CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000118520.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 14_64631909_A->T 14 64631909 64631909 A T snp 248.77 0/1 99 27 17 10 0.37 ncRNA_intronic rs148073366 MIR548AZ AU 0.00339457 0.0169 Uncertain 14_64637147_C->A 14 64637147 64637147 C A snp 2061.77 0/1 99 167 78 89 0.53 exonic rs7161192 SYNE2 AD synonymous SNV NM_182914 exon94 c.C17202A p.L5734L 0.365815 0.5526 0.339843 0.3510 0.5817 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000118525.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 14_64640665_C->G 14 64640665 64640665 C G snp 114.77 0/1 99 19 11 8 0.42 ncRNA_intronic rs7148122 MIR548AZ AU 0.191494 0.2292 0.2457 0.2687 0.19 T 0.0 P -1.031 T Uncertain 14_64644205_T->C 14 64644205 64644205 T C snp 2111.77 0/1 99 177 83 94 0.53 splicing rs2297301 SYNE2 AD NM_015180 exon96 c.268335+4T>C 0.0385383 0.1091 0.015147 0.0302 0.1195 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000118527.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 14_64655161_C->T 14 64655161 64655161 C T snp 1300.77 1/1 96 39 0 39 1.0 ncRNA_intronic rs1255986 MIR548AZ AU 0.664936 0.7044 Uncertain 14_64656855_T->C 14 64656855 64656855 T C snp 2934.77 1/1 99 118 2 116 0.98 exonic rs2256191 SYNE2 AD synonymous SNV NM_182914 exon99 c.T17938C p.L5980L 0.487021 0.3552 0.491850 0.3943 0.3801 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000118528.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 14_64657684_C->A 14 64657684 64657684 C A snp 3179.76 1/1 99 123 0 123 1.0 ncRNA_intronic rs1255988 MIR548AZ AU 0.664137 0.7073 0.5230 0.7121 Uncertain 14_64669771_C->T 14 64669771 64669771 C T snp 301.78 1/1 24 8 0 8 1.0 ncRNA_intronic rs6573548 MIR548AZ AU 0.462061 0.3502 Uncertain 14_64674981_T->C 14 64674981 64674981 T C snp 756.77 1/1 57 21 0 21 1.0 ncRNA_intronic rs1152595 MIR548AZ AU 0.638179 0.7302 Uncertain 14_64676098_A->G 14 64676098 64676098 A G snp 1662.77 1/1 99 64 0 64 1.0 ncRNA_intronic rs1152592 MIR548AZ AU 0.593251 0.7044 0.522067 0.4535 0.6944 Uncertain 14_64680848_A->G 14 64680848 64680848 A G snp 1589.77 1/1 99 51 0 51 1.0 ncRNA_intronic rs1152591 MIR548AZ AU 0.68131 0.7371 Uncertain 14_64681193_C->T 14 64681193 64681193 C T snp 941.77 1/1 69 29 0 29 1.0 splicing rs1152590 SYNE2 AD NM_182913 exon1 c.235+5C>T 0.583267 0.7093 0.508458 0.4702 0.7022 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000118529.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 14_64685842_T->A 14 64685842 64685842 T A snp 191.78 0/1 24 10 3 7 0.7 ncRNA_intronic rs2149766 MIR548AZ AU Uncertain 14_64686125_G->T 14 64686125 64686125 G T snp 959.77 0/1 99 100 57 43 0.43 exonic rs35648226 SYNE2 AD synonymous SNV NM_182914 exon110 c.G19857T p.L6619L 0.209665 0.1131 0.260649 0.2409 0.0957 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000118530.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 14_64686207_A->G 14 64686207 64686207 A G snp 805.77 1/1 60 27 0 27 1.0 ncRNA_intronic rs915057 MIR548AZ AU 0.695887 0.7411 Uncertain 14_64688175_G->C 14 64688175 64688175 G C snp 1608.77 1/1 99 54 0 54 1.0 ncRNA_intronic rs1152588 MIR548AZ AU 0.688299 0.7163 ID=CS054232;DIS=Increased spine bone mineral density in men, association;TAG=DP;PUB=16118344 DP Uncertain 14_64691320_A->G 14 64691320 64691320 A G snp 427.77 0/1 99 27 9 18 0.67 ncRNA_intronic rs8020646 MIR548AZ AU 0.211462 0.0903 0.180683 Uncertain 14_64691643_G->C 14 64691643 64691643 G C snp 166.77 0/1 99 21 14 7 0.33 ncRNA_intronic rs2297621 MIR548AZ AU 0.201478 0.0893 0.175646 Uncertain 14_64691645_T->- 14 64691645 64691645 T - indel 460.73 1/1 57 23 1 22 0.96 ncRNA_intronic rs35455974 MIR548AZ AU 0.658746 0.6389 Uncertain 14_64692377_C->A 14 64692377 64692377 C A snp 184.77 0/1 99 12 6 6 0.5 ncRNA_intronic rs1152583 MIR548AZ AU 0.32528 0.4623 Uncertain 14_64694082_T->C 14 64694082 64694082 T C snp 307.77 0/1 91 13 3 10 0.77 ncRNA_intronic rs8018687 MIR548AZ AU 0.201877 0.0913 Uncertain 14_64694195_C->T 14 64694195 64694195 C T snp 3990.77 1/1 99 147 0 147 1.0 ncRNA_intronic rs928554 MIR548AZ AU 0.689297 0.7073 0.665572 Uncertain 14_64694749_T->G 14 64694749 64694749 T G snp 586.77 0/1 99 48 27 21 0.44 ncRNA_intronic rs17225885 MIR548AZ AU 0.101637 0.0913 0.1222 0.1663 0.0 P -0.859 T Uncertain 14_64699816_C->T 14 64699816 64699816 C T snp 146.77 0/1 99 19 12 7 0.37 ncRNA_intronic rs4986938 MIR548AZ AU 0.259784 0.1319 0.336383 0.3172 0.1106 Uncertain 14_64746933_-->A 14 64746933 64746933 - A indel 455.73 1/1 51 21 0 21 1.0 ncRNA_intronic rs3034336 MIR548AZ AU 0.551118 0.2966 Uncertain 14_64814311_C->T 14 64814311 64814311 C T snp 1970.77 1/1 99 75 0 75 1.0 ncRNA_exonic rs1256112 TEX21P AU 0.714457 0.7341 0.5536 0.7424 ID=CR054249;DIS=Increased spine bone mineral density, association;TAG=DP;PUB=16118344 DP Uncertain 14_64814458_T->C 14 64814458 64814458 T C snp 313.77 0/1 99 17 5 12 0.71 ncRNA_intronic rs944051 MIR548AZ AU 0.0445288 0.121 Uncertain 14_64855041_T->C 14 64855041 64855041 T C snp 643.77 0/1 99 101 70 31 0.31 ncRNA_intronic rs1076991 MIR548AZ AU 0.52516 0.2192 0.4691 0.2690 0.17 T 0.000 P -1.026 T 0.0 T 0.0 T ID=CR092144;DIS=Reduced transcriptional activity;TAG=FP;PUB=19130090 FP Uncertain 14_64882380_A->G 14 64882380 64882380 A G snp 1804.77 0/1 99 159 82 77 0.48 exonic rs1950902 MTHFD1 AU,AR nonsynonymous SNV NM_005956 exon6 c.A401G p.K134R 0.823482 0.6448 0.831539 0.8331 0.6744 0.76 T 1.000 P -1.004 T 0.009 T 0.017 T ID=CM065321;DIS=Colorectal cancer, increased risk, association with;TAG=DP;PUB=17000706 DP Pathogenic 14_64902493_T->C 14 64902493 64902493 T C snp 2599.77 0/1 99 217 109 108 0.5 ncRNA_intronic rs3818240 MIR548AZ AU 0.19988 0.371 Uncertain 14_64905976_C->T 14 64905976 64905976 C T snp 326.77 0/1 99 33 21 12 0.36 ncRNA_intronic rs45618332 MIR548AZ AU 0.220647 0.2401 Uncertain 14_64908845_G->A 14 64908845 64908845 G A snp 3814.77 0/1 99 250 111 139 0.56 exonic rs2236225 MTHFD1 AU,AR nonsynonymous SNV NM_005956 exon20 c.G1958A p.R653Q 0.341853 0.1984 0.374981 0.4354 0.2233 0.15 T 0.971 P -0.909 T 0.33 T 0.026 T CLINSIG=other;CLNDBN=Neural_tube_defects\x2c_folate-sensitive\x2c_susceptibility_to;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000014603.1;CLNDSDB=.;CLNDSDBID=. ID=CM022820;DIS=Neural tube defect, association with;TAG=DFP;PUB=12384833 DFP Pathogenic 14_64909151_G->A 14 64909151 64909151 G A snp 876.77 0/1 99 59 27 32 0.54 ncRNA_intronic rs2236224 MIR548AZ AU 0.308307 0.2917 0.315931 0.3856 0.2932 Uncertain 14_64911627_T->C 14 64911627 64911627 T C snp 423.77 1/1 33 11 0 11 1.0 ncRNA_intronic rs1256143 MIR548AZ AU 0.889577 0.9405 Uncertain 14_64926434_TGCT->- 14 64926434 64926437 TGCT - indel 571.74 1/1 27 9 0 9 1.0 ncRNA_intronic rs71123851 MIR548AZ AU 0.997404 0.9871 0.9999 0.9945 Uncertain 14_64926453_T->C 14 64926453 64926453 T C snp 64.77 0/1 93 14 9 5 0.36 ncRNA_intronic MIR548AZ AU Uncertain 14_64935720_C->T 14 64935720 64935720 C T snp 7552.77 1/1 99 249 0 249 1.0 exonic rs1256149 AKAP5 AU nonsynonymous SNV NM_004857 exon2 c.C608T p.T203I 0.983826 0.9365 0.999923 0.9942 0.9464 0.43 T 0.0 P -0.992 T 0.0 T 0.0 T Pathogenic 14_64947181_C->T 14 64947181 64947181 C T snp 724.77 0/1 99 67 32 35 0.52 intronic rs8003790 ZBTB25 AU NM_001304508 exon2 c.40810-9897C>T 0.57528 0.5427 Uncertain 14_64953580_T->A 14 64953580 64953580 T A snp 222.77 0/1 99 16 9 7 0.44 UTR3 rs10132969 ZBTB25 AU 0.232029 0.4127 Uncertain 14_64953591_C->T 14 64953591 64953591 C T snp 329.77 0/1 99 24 13 11 0.46 UTR3 rs10143839 ZBTB25 AU 0.232029 0.4127 0.229470 0.2745 0.4041 Uncertain 14_64988114_-->AA 14 64988114 64988114 - AA indel 906.73 1/1 54 18 0 18 1.0 ncRNA_intronic rs10624421 LOC102723809 AU 0.821885 0.8849 Uncertain 14_64988279_A->G 14 64988279 64988279 A G snp 2458.77 0/1 99 224 113 111 0.5 exonic rs28626711 ZBTB1 AU synonymous SNV NM_001123329 exon2 c.A57G p.E19E 0.162141 0.2083 0.171536 0.1938 0.1972 Uncertain 14_64988924_T->C 14 64988924 64988924 T C snp 2825.77 0/1 99 215 93 122 0.57 exonic rs10133411 ZBTB1 AU synonymous SNV NM_001123329 exon2 c.T702C p.H234H 0.162141 0.2083 0.171459 0.1937 0.1972 Uncertain 14_65008251_C->T 14 65008251 65008251 C T snp 7471.77 1/1 99 250 1 249 1.0 exonic rs1063391 HSPA2 AU synonymous SNV NM_021979 exon1 c.C684T p.D228D 0.652556 0.8601 0.600646 0.6924 0.8526 Uncertain 14_65009534_-->T 14 65009534 65009534 - T indel 145.52 0/1 7 15 1 14 0.93 UTR3 rs35270454 HSPA2 AU 0.454872 0.5357 0.557498 0.5884 0.7944 Uncertain 14_65016702_T->G 14 65016702 65016702 T G snp 3492.77 1/1 99 132 0 132 1.0 UTR5 rs7156953 PPP1R36 AU 0.82488 0.9157 0.804649 0.8292 0.9180 Uncertain 14_65032226_C->T 14 65032226 65032226 C T snp 5557.77 1/1 99 194 0 194 1.0 intronic rs8007313 PPP1R36 AU NM_172365 exon5 c.15457+54C>T 0.859625 0.8919 Uncertain 14_65041483_A->G 14 65041483 65041483 A G snp 248.8 1/1 21 7 0 7 1.0 intronic rs9671808 PPP1R36 AU NM_172365 exon8 c.24592+176A>G 0.972045 1 Uncertain 14_65068221_C->A 14 65068221 65068221 C A snp 4389.77 1/1 99 156 0 156 1.0 intergenic rs11158545 PPP1R36 AU Uncertain 14_65204242_-->CA 14 65204242 65204242 - CA indel 1215.73 1/1 78 29 0 29 1.0 intronic rs142038577 PLEKHG3 AU NM_015549 exon12 c.9744+149insCA 0.0315495 0.1349 Uncertain 14_65239877_C->T 14 65239877 65239877 C T snp 696.77 0/1 99 57 34 23 0.4 intronic rs92070 SPTB AU,AD NM_000347 exon8 c.6563-60C>T 0.241613 0.3938 Uncertain 14_65241228_A->G 14 65241228 65241228 A G snp 2567.77 0/1 99 250 131 119 0.48 exonic rs229592 SPTB AU,AD synonymous SNV NM_000347 exon23 c.T4860C p.I1620I 0.478435 0.4563 0.401367 0.3722 0.4674 Uncertain 14_65242044_C->T 14 65242044 65242044 C T snp 1925.77 0/1 99 164 83 81 0.49 exonic rs184528 SPTB AU,AD synonymous SNV NM_000347 exon22 c.G4641A p.A1547A 0.412141 0.3671 0.347071 0.2680 0.3829 Uncertain 14_65242167_G->A 14 65242167 65242167 G A snp 706.77 0/1 99 62 30 32 0.52 intronic rs61392811 SPTB AU,AD NM_000347 exon10 c.8747+46G>A 0.129593 0.3472 0.054094 0.0987 0.3768 Uncertain 14_65245863_C->G 14 65245863 65245863 C G snp 831.77 0/1 99 87 47 40 0.46 intronic rs1741489 SPTB AU,AD NM_000347 exon11 c.12500-11C>G 0.410543 0.3532 0.362448 0.2846 0.3265 Uncertain 14_65245956_C->T 14 65245956 65245956 C T snp 770.77 0/1 99 121 79 42 0.35 exonic rs1741488 SPTB AU,AD synonymous SNV NM_000347 exon21 c.G4482A p.V1494V 0.411542 0.3532 0.363755 0.2809 0.3199 Uncertain 14_65245962_A->G 14 65245962 65245962 A G snp 797.77 0/1 99 121 79 42 0.35 exonic rs1741487 SPTB AU,AD synonymous SNV NM_000347 exon21 c.T4476C p.L1492L 0.411941 0.3532 0.361910 0.2814 0.3217 Uncertain 14_65246006_G->A 14 65246006 65246006 G A snp 507.77 0/1 99 96 68 28 0.29 intronic rs1741486 SPTB AU,AD NM_000347 exon11 c.12590+42G>A 0.41254 0.3532 0.361910 0.2590 0.2917 Uncertain 14_65246011_A->G 14 65246011 65246011 A G snp 391.77 0/1 99 84 62 22 0.26 intronic rs1107633 SPTB AU,AD NM_000347 exon11 c.12590+47A>G 0.108427 0.2262 0.067277 0.0604 0.1738 Uncertain 14_65246040_G->A 14 65246040 65246040 G A snp 373.77 0/1 99 54 37 17 0.31 intronic rs2357726 SPTB AU,AD NM_000347 exon11 c.12590+76G>A 0.410543 0.3502 Uncertain 14_65246350_A->G 14 65246350 65246350 A G snp 426.77 0/1 99 27 13 14 0.52 intronic rs1741485 SPTB AU,AD NM_000347 exon12 c.13068-92A>G 0.411941 0.3542 Uncertain 14_65246623_T->C 14 65246623 65246623 T C snp 1655.77 0/1 99 171 103 68 0.4 exonic rs1626923 SPTB AU,AD synonymous SNV NM_000347 exon20 c.A4293G p.R1431R 0.445088 0.377 0.423574 0.3494 0.3648 Uncertain 14_65249052_C->G 14 65249052 65249052 C G snp 2909.77 0/1 99 250 125 125 0.5 exonic rs17245552 SPTB AU,AD nonsynonymous SNV NM_000347 exon19 c.G4222C p.G1408R 0.101637 0.2262 0.061895 0.0675 0.2108 0.01 T 1.000 P -1.151 T 1.0 D 0.997 D Pathogenic 14_65250939_A->G 14 65250939 65250939 A G snp 1548.77 1/1 99 51 0 51 1.0 intronic rs229634 SPTB AU,AD NM_000347 exon14 c.17590-25A>G 0.630791 0.7718 0.524912 0.4911 0.7877 Uncertain 14_65253232_T->C 14 65253232 65253232 T C snp 1398.77 0/1 99 132 74 58 0.44 exonic rs77806 SPTB AU,AD nonsynonymous SNV NM_000347 exon15 c.A3451G p.N1151D 0.469449 0.4018 0.404429 0.3381 0.3498 0.46 T 0.000 P -0.975 T 0.0 T 0.003 T Pathogenic 14_65262425_C->A 14 65262425 65262425 C A snp 111.77 0/1 99 9 5 4 0.44 intronic rs229589 SPTB AU,AD NM_000347 exon21 c.28983+68C>A 0.465655 0.3562 Uncertain 14_65263300_C->T 14 65263300 65263300 C T snp 1263.77 0/1 99 116 62 54 0.47 exonic rs229587 SPTB AU,AD nonsynonymous SNV NM_000347 exon10 c.G1316A p.S439N 0.466853 0.3532 0.436337 0.3804 0.3193 0.5 T 0.000 P -0.940 T 0.003 T 0.019 T Pathogenic 14_65263347_C->T 14 65263347 65263347 C T snp 1961.77 0/1 99 155 75 80 0.52 exonic rs229586 SPTB AU,AD synonymous SNV NM_000347 exon10 c.G1269A p.L423L 0.28135 0.2907 0.252576 0.2638 0.2611 Uncertain 14_65263590_-->T 14 65263590 65263590 - T indel 161.73 0/1 99 14 5 9 0.64 intronic rs3215645 SPTB AU,AD NM_000347 exon22 c.30059+157insT 0.468051 0.3313 Uncertain 14_65267609_-->T 14 65267609 65267609 - T indel 2102.73 0/1 99 106 48 58 0.55 intronic rs35533493 SPTB AU,AD NM_000347 exon25 c.34212+23insT 0.0734824 0.1825 0.051518 0.0644 0.1889 Uncertain 14_65268718_A->G 14 65268718 65268718 A G snp 586.77 0/1 99 61 39 22 0.36 intronic rs45617438 SPTB AU,AD NM_000347 exon27 c.35178+166A>G 0.0966454 0.2034 Uncertain 14_65271650_A->G 14 65271650 65271650 A G snp 1037.77 0/1 99 70 29 41 0.59 intronic rs229581 SPTB AU,AD NM_000347 exon30 c.38282-6A>G 0.466054 0.3532 0.427649 0.3693 0.3217 Uncertain 14_65271780_G->A 14 65271780 65271780 G A snp 2924.77 0/1 99 227 98 129 0.57 exonic rs2277503 SPTB AU,AD synonymous SNV NM_000347 exon2 c.C177T p.T59T 0.0680911 0.1815 0.043749 0.0534 0.1684 Uncertain 14_65289978_A->G 14 65289978 65289978 A G snp 269.8 1/1 21 8 0 8 1.0 upstream rs179338 SPTB AU,AD 0.9998 0.999 Uncertain 14_65380995_A->C 14 65380995 65380995 A C snp 626.77 0/1 99 37 16 21 0.57 upstream rs142878164 CHURC1 AU 0.00758786 0.0337 Uncertain 14_65407000_C->T 14 65407000 65407000 C T snp 2361.77 1/1 99 94 0 94 1.0 intronic rs2071566 CHURC1-FNTB AU NM_001202559 exon3 c.11666+14202C>T 0.572085 0.7034 Uncertain 14_65409989_C->A 14 65409989 65409989 C A snp 4186.77 1/1 99 152 0 152 1.0 intronic rs17093568 CHURC1-FNTB AU NM_001202559 exon3 c.11666+17191C>A 0.15595 0.504 0.0440 0.4924 Uncertain 14_65410201_T->- 14 65410201 65410201 T - indel 725.73 1/1 51 18 0 18 1.0 intronic rs3831077 CHURC1-FNTB AU NM_001202559 exon3 c.11666+17403delT 0.335463 0.5724 Uncertain 14_65417070_C->A 14 65417070 65417070 C A snp 1791.77 1/1 99 69 1 68 0.99 exonic rs35179634 RAB15 AU nonsynonymous SNV NM_198686 exon5 c.G518T p.G173V 0.255391 0.504 0.133708 0.1035 0.4984 0.34 T 1.0 P -0.955 T 0.997 D 0.89 D Pathogenic 14_65419293_A->G 14 65419293 65419293 A G snp 4545.77 1/1 99 172 2 170 0.99 splicing rs45454295 RAB15 AU NM_198686 exon6 c.4075+4A>G 0.373203 0.6577 0.295787 0.3100 0.6555 Pathogenic 14_65419473_C->A 14 65419473 65419473 C A snp 535.77 1/1 42 14 0 14 1.0 intronic rs59000318 CHURC1-FNTB AU NM_001202559 exon3 c.11666+26675C>A 0.271166 0.5774 Uncertain 14_65499450_G->A 14 65499450 65499450 G A snp 1815.77 1/1 99 65 0 65 1.0 intronic rs7148144 CHURC1-FNTB AU NM_001202559 exon9 c.118282+36G>A 0.24381 0.2837 0.188682 0.1375 0.2829 Uncertain 14_65499463_C->T 14 65499463 65499463 C T snp 1607.77 1/1 99 56 0 56 1.0 intronic rs60038853 CHURC1-FNTB AU NM_001202559 exon9 c.118282+49C>T 0.244609 0.2837 0.189605 0.1379 0.2828 Uncertain 14_65801811_A->G 14 65801811 65801811 A G snp 992.77 0/1 99 88 43 45 0.51 downstream rs12881755 MIR4708 AU 0.40016 0.2212 0 . Uncertain 14_65878565_C->T 14 65878565 65878565 C T snp 83.77 0/1 28 4 1 3 0.75 ncRNA_exonic rs191030169 FUT8-AS1 AU 0.0147764 0.0347 Uncertain 14_65878807_C->T 14 65878807 65878807 C T snp 2819.77 0/1 99 231 115 116 0.5 ncRNA_exonic rs1953416 FUT8-AS1 AU 0.253994 0.2401 0.3636 0.2576 Uncertain 14_66028446_A->G 14 66028446 66028446 A G snp 3292.77 1/1 99 124 0 124 1.0 exonic rs2229677 FUT8 AU synonymous SNV NM_178155 exon3 c.A165G p.Q55Q 0.756789 0.9048 0.699477 0.7046 0.8972 Uncertain 14_66028505_T->C 14 66028505 66028505 T C snp 2622.77 1/1 99 103 0 103 1.0 intronic rs3825639 FUT8 AU NM_178155 exon3 c.203+21T>C 0.756789 0.9048 0.699016 0.7060 0.8979 Uncertain 14_66082573_A->G 14 66082573 66082573 A G snp 443.77 0/1 99 33 17 16 0.48 intronic rs8012278 FUT8 AU NM_178155 exon4 c.54414-122A>G 0.254992 0.2421 Uncertain 14_66096193_G->A 14 66096193 66096193 G A snp 1855.77 0/1 99 147 70 77 0.52 intronic rs117401129 FUT8 AU NM_178155 exon6 c.67928-16G>A 0.014976 0.0347 0.003767 0.0064 0.0388 Uncertain 14_66188882_T->A 14 66188882 66188882 T A snp 54.74 1/1 6 2 0 2 1.0 intronic rs4143898 FUT8 AU NM_004480 exon7 c.92523+143T>A 0.440096 0.3849 Uncertain 14_66209190_C->G 14 66209190 66209190 C G snp 1348.77 1/1 96 45 0 45 1.0 UTR3 rs1054218 FUT8 AU 0.504992 0.506 Uncertain 14_66424605_C->A 14 66424605 66424605 C A snp 1208.77 0/1 99 128 73 55 0.43 intergenic rs7141711 FUT8 AU 0.465455 0.2847 0.3209 0.2279 Uncertain 14_66479652_G->T 14 66479652 66479652 G T snp 865.77 0/1 99 64 34 30 0.47 intergenic rs10130914 FUT8 AU 0.486422 0.3611 Uncertain 14_66480197_G->A 14 66480197 66480197 G A snp 1290.77 0/1 99 143 84 59 0.41 intergenic rs3888365 FUT8 AU 0.30012 0.1716 Uncertain 14_66480247_C->T 14 66480247 66480247 C T snp 1882.77 0/1 99 196 113 83 0.42 intergenic rs1807442 FUT8 AU 0.328275 0.1756 Uncertain 14_66480248_A->C 14 66480248 66480248 A C snp 1951.77 0/1 99 197 114 83 0.42 intergenic rs1807441 FUT8 AU 0.329273 0.1756 Uncertain 14_66972164_A->T 14 66972164 66972164 A T snp 233.77 0/1 99 14 5 9 0.64 intergenic rs10220636 LINC00238 AU 0.294928 0.4573 Uncertain 14_66974474_T->C 14 66974474 66974474 T C snp 1273.77 0/1 99 81 29 52 0.64 UTR5 rs928553 GPHN AU 0.450679 0.4732 0.2890 0.4899 Uncertain 14_67147816_T->C 14 67147816 67147816 T C snp 191.77 0/1 99 20 11 9 0.45 intronic rs3759753 GPHN AU NM_020806 exon2 c.172579-8T>C 0.45028 0.4782 0.314134 0.2661 0.4690 Uncertain 14_67291154_A->G 14 67291154 67291154 A G snp 1920.77 0/1 99 178 90 88 0.49 intronic rs3784074 GPHN AU NM_020806 exon4 c.315946-37A>G 0.450479 0.4752 0.314442 0.2601 0.4739 Uncertain 14_67291186_T->C 14 67291186 67291186 T C snp 2301.77 0/1 99 195 92 103 0.53 splicing rs3784075 GPHN AU NM_020806 exon4 c.315946-5T>C 0.38119 0.4692 0.218438 0.1856 0.4644 Pathogenic 14_67389720_-->T 14 67389720 67389720 - T indel 384.73 0/1 99 34 17 17 0.5 intronic rs3215581 GPHN AU NM_020806 exon7 c.414410+65insT 0.398363 0.4673 Uncertain 14_67463012_C->T 14 67463012 67463012 C T snp 1910.77 0/1 99 152 76 76 0.5 intronic rs7142068 GPHN AU NM_020806 exon10 c.515104-27337C>T 0.389776 0.4673 Uncertain 14_67555878_A->G 14 67555878 67555878 A G snp 254.8 1/1 21 7 0 7 1.0 intronic rs12323748 GPHN AU NM_020806 exon12 c.580547+86A>G 0.994409 0.996 Uncertain 14_67578727_A->G 14 67578727 67578727 A G snp 810.77 0/1 99 72 38 34 0.47 intronic rs41301475 GPHN AU NM_020806 exon15 c.603391+91A>G 0.0259585 0.001 Uncertain 14_67671701_C->T 14 67671701 67671701 C T snp 1967.77 0/1 99 166 83 83 0.5 exonic rs11158655 FAM71D AU synonymous SNV NM_173526 exon5 c.C807T p.V269V 0.320687 0.4256 0.168029 0.2162 0.4906 Uncertain 14_67675224_A->G 14 67675224 67675224 A G snp 1148.77 0/1 99 86 44 42 0.49 intronic rs10150082 FAM71D AU NM_173526 exon6 c.10288+58A>G 0.359225 0.4534 Uncertain 14_67688610_A->G 14 67688610 67688610 A G snp 1477.77 0/1 99 126 61 65 0.52 intronic rs17248456 FAM71D AU NM_173526 exon7 c.23646+86A>G 0.308906 0.4494 0.132063 Uncertain 14_67691449_A->G 14 67691449 67691449 A G snp 213.77 0/1 65 15 4 11 0.73 intronic rs12590956 FAM71D AU NM_173526 exon8 c.26956-385A>G 0.346046 0.4583 0.2544 0.52 Uncertain 14_67691720_C->T 14 67691720 67691720 C T snp 154.77 0/1 99 9 4 5 0.56 intronic rs73279028 FAM71D AU NM_173526 exon8 c.26956-114C>T 0.30012 0.4286 Uncertain 14_67691785_C->T 14 67691785 67691785 C T snp 925.77 0/1 99 57 21 36 0.63 intronic rs45612334 FAM71D AU NM_173526 exon8 c.26956-49C>T 0.30012 0.4286 0.129408 0.1659 0.4600 Uncertain 14_67759390_G->A 14 67759390 67759390 G A snp 2901.77 0/1 99 249 124 125 0.5 exonic rs140810601 MPP5 AU nonsynonymous SNV NM_001256550 exon4 c.G428A p.S143N 0.000798722 0.002922 0.0029 0 0.49 T 1.000 D -0.919 T 0.828 T 0.221 P Pathogenic 14_67769177_A->C 14 67769177 67769177 A C snp 1545.77 0/1 99 135 64 71 0.53 exonic rs10146663 MPP5 AU synonymous SNV NM_001256550 exon7 c.A750C p.V250V 0.298123 0.4196 0.134400 0.1387 0.4203 Uncertain 14_67770416_-->ATAGAG 14 67770416 67770416 - ATAGAG indel 654.73 0/1 99 21 8 13 0.62 intronic rs142255382 MPP5 AU NM_022474 exon8 c.24429+100insATAGAG 0.294529 0.4167 Uncertain 14_67779506_C->T 14 67779506 67779506 C T snp 894.77 0/1 99 50 13 37 0.74 intronic rs12588292 MPP5 AU NM_022474 exon9 c.33540+79C>T 0.340655 0.497 Uncertain 14_67779580_G->A 14 67779580 67779580 G A snp 125.78 0/1 25 6 1 5 0.83 intronic rs12588355 MPP5 AU NM_022474 exon9 c.33540+153G>A 0.29992 0.4286 Uncertain 14_67784005_T->C 14 67784005 67784005 T C snp 47.78 0/1 27 4 1 3 0.75 intronic rs1475129 MPP5 AU NM_022474 exon11 c.38237-119T>C 0.29992 0.4286 Uncertain 14_67784071_T->C 14 67784071 67784071 T C snp 369.77 0/1 99 30 14 16 0.53 intronic rs1475128 MPP5 AU NM_022474 exon11 c.38237-53T>C 0.29353 0.4286 0.122208 Uncertain 14_67786924_A->G 14 67786924 67786924 A G snp 1202.77 0/1 99 100 47 53 0.53 intronic rs3809387 MPP5 AU NM_022474 exon12 c.41059-22A>G 0.29992 0.4286 0.134343 0.1418 0.4286 Uncertain 14_67805253_A->C 14 67805253 67805253 A C snp 907.77 0/1 99 51 18 33 0.65 UTR3 rs1045060 ATP6V1D AU 0.29972 0.4276 Uncertain 14_67807243_A->- 14 67807243 67807243 A - indel 3030.73 1/1 99 128 1 127 0.99 intronic rs33973037 ATP6V1D AU NM_015994 exon2 c.1898+8delA 0.598043 0.5685 0.519569 0.4821 0.5768 ID=COSM1607866;OCCURENCE=1(liver) Uncertain 14_67810033_C->T 14 67810033 67810033 C T snp 665.77 0/1 99 73 39 34 0.47 intronic rs2319777 ATP6V1D AU NM_015994 exon3 c.4751-55C>T 0.453275 0.5149 0.293912 Uncertain 14_67812304_G->A 14 67812304 67812304 G A snp 80.77 0/1 99 6 3 3 0.5 intronic rs10138755 ATP6V1D AU NM_015994 exon4 c.7147-180G>A 0.293331 0.4276 Uncertain 14_67812474_T->C 14 67812474 67812474 T C snp 1152.77 0/1 99 82 33 49 0.6 intronic rs3818467 ATP6V1D AU NM_015994 exon4 c.7147-10T>C 0.29972 0.4276 0.134938 0.1432 0.4304 Uncertain 14_67812631_A->G 14 67812631 67812631 A G snp 363.77 0/1 99 30 15 15 0.5 intronic rs2274336 ATP6V1D AU NM_015994 exon4 c.7251+43A>G 0.29972 0.4276 0.134805 0.1542 0.4390 Uncertain 14_67814201_T->C 14 67814201 67814201 T C snp 534.77 0/1 99 44 20 24 0.55 intronic rs28422832 ATP6V1D AU NM_015994 exon5 c.8833+31T>C 0.299521 0.4276 0.134784 0.1390 0.4267 Uncertain 14_67814219_C->T 14 67814219 67814219 C T snp 481.77 0/1 99 30 14 16 0.53 intronic rs72717396 ATP6V1D AU NM_015994 exon5 c.8833+49C>T 0.365016 0.4921 0.1345 0.2928 Uncertain 14_67814234_C->T 14 67814234 67814234 C T snp 64.77 0/1 93 11 7 4 0.36 intronic rs73284844 ATP6V1D AU NM_015994 exon5 c.8833+64C>T 0.307109 0.4315 Uncertain 14_67815983_T->G 14 67815983 67815983 T G snp 151.77 0/1 99 9 4 5 0.56 intronic rs2274338 ATP6V1D AU NM_015994 exon6 c.10484+162T>G 0.299521 0.4276 Uncertain 14_67819568_A->- 14 67819568 67819568 A - indel 197.75 1/1 24 8 0 8 1.0 intronic rs10718799 ATP6V1D AU NM_015994 exon8 c.14302-71delA Uncertain 14_67819602_T->C 14 67819602 67819602 T C snp 279.77 0/1 99 29 17 12 0.41 intronic rs8020850 ATP6V1D AU NM_015994 exon8 c.14302-37T>C 0.340455 0.5069 0.154936 0.1753 0.5118 Uncertain 14_67831459_C->T 14 67831459 67831459 C T snp 913.77 0/1 99 73 36 37 0.51 intronic rs6573769 EIF2S1 AU 0.337859 0.495 0.168333 0.1905 0.5072 Uncertain 14_67847511_G->A 14 67847511 67847511 G A snp 257.77 0/1 99 28 15 13 0.46 intronic rs10132093 EIF2S1 AU NM_004094 exon5 c.15998+29G>A 0.452476 0.5119 0.290475 0.2582 0.5069 Uncertain 14_67849139_A->T 14 67849139 67849139 A T snp 775.77 0/1 99 94 59 35 0.37 intronic rs2296561 EIF2S1 AU NM_004094 exon7 c.17679-24A>T 0.452476 0.5119 0.297247 0.2570 0.5066 Uncertain 14_67860119_G->A 14 67860119 67860119 G A snp 168.77 0/1 99 15 9 6 0.4 intronic rs10139585 PLEK2 AU NM_016445 exon6 c.5913+161G>A 0.292133 0.4266 Uncertain 14_67862371_G->A 14 67862371 67862371 G A snp 438.77 0/1 99 41 25 16 0.39 intronic rs3818468 PLEK2 AU NM_016445 exon7 c.8255+71G>A 0.296725 0.4415 Uncertain 14_67878717_A->G 14 67878717 67878717 A G snp 2005.77 0/1 99 191 101 90 0.47 intronic rs12888674 PLEK2 AU NM_016445 exon9 c.24689-17A>G 0.15655 0.0873 0.228520 0.2892 0.1718 Uncertain 14_67912792_A->G 14 67912792 67912792 A G snp 707.77 0/1 99 51 24 27 0.53 intergenic rs3742855 PLEK2 AU 0.506789 0.2907 0.476107 0.4138 0.2786 Uncertain 14_67940666_G->C 14 67940666 67940666 G C snp 540.77 0/1 99 41 22 19 0.46 intronic rs74338680 TMEM229B AU NM_182526 exon1 c.522+8G>C 0.0740815 0.1458 0.043151 0.0561 0.1579 Uncertain 14_68022410_C->T 14 68022410 68022410 C T snp 909.77 1/1 66 30 0 30 1.0 intronic rs3742868 PLEKHH1 AU NM_020715 exon3 c.13957-131C>T 0.855831 0.8333 Uncertain 14_68028816_G->- 14 68028816 68028816 G - indel 1876.73 0/1 99 118 61 57 0.48 intronic rs398099432 PLEKHH1 AU NM_020715 exon7 c.20269-37delG 0.194089 0.1468 0.227751 0.2524 0.1452 Uncertain 14_68035879_A->G 14 68035879 68035879 A G snp 1049.77 0/1 99 97 54 43 0.44 exonic rs3825725 PLEKHH1 AU nonsynonymous SNV NM_020715 exon8 c.A1288G p.T430A 0.211661 0.1468 0.239905 0.2462 0.1464 0.3 T 1.000 P -0.979 T 0.004 T 0.004 T Pathogenic 14_68038697_C->G 14 68038697 68038697 C G snp 1007.77 1/1 75 28 0 28 1.0 intronic rs2236234 PLEKHH1 AU NM_020715 exon10 c.30035+78C>G 0.644169 0.5585 Uncertain 14_68038729_A->G 14 68038729 68038729 A G snp 682.77 1/1 51 21 0 21 1.0 intronic rs2236233 PLEKHH1 AU NM_020715 exon10 c.30035+110A>G 0.766174 0.745 Uncertain 14_68038779_T->G 14 68038779 68038779 T G snp 1593.77 1/1 99 52 0 52 1.0 intronic rs2236232 PLEKHH1 AU NM_020715 exon11 c.30267-72T>G 0.691094 0.5813 Uncertain 14_68039027_A->G 14 68039027 68039027 A G snp 2222.77 1/1 99 78 0 78 1.0 intronic rs2236231 PLEKHH1 AU NM_020715 exon11 c.30410+33A>G 0.533347 0.4692 0.631482 0.6515 0.4931 Uncertain 14_68041124_G->C 14 68041124 68041124 G C snp 1242.77 1/1 93 37 0 37 1.0 splicing rs1555400 PLEKHH1 AU NM_020715 exon14 c.32536+4G>C 0.532348 0.4563 0.536317 0.5695 0.4635 Pathogenic 14_68041931_A->G 14 68041931 68041931 A G snp 50.74 1/1 6 2 0 2 1.0 intronic rs4899209 PLEKHH1 AU NM_020715 exon15 c.33524-177A>G 0.721645 0.624 Uncertain 14_68042255_A->G 14 68042255 68042255 A G snp 1674.77 1/1 99 60 0 60 1.0 intronic rs4902490 PLEKHH1 AU NM_020715 exon15 c.33605+66A>G 0.45627 0.4147 0.5613 0.4776 Uncertain 14_68042496_A->G 14 68042496 68042496 A G snp 1172.77 1/1 87 38 0 38 1.0 intronic rs4902491 PLEKHH1 AU NM_020715 exon16 c.33955-43A>G 0.72484 0.624 0.773249 0.8000 0.6317 Uncertain 14_68042574_A->G 14 68042574 68042574 A G snp 3719.77 1/1 99 130 0 130 1.0 exonic rs11158685 PLEKHH1 AU nonsynonymous SNV NM_020715 exon16 c.A2204G p.H735R 0.478634 0.4603 0.457186 0.5193 0.4492 1 T 0.000 P -0.921 T 0.0 T 0.0 T Pathogenic 14_68044005_C->T 14 68044005 68044005 C T snp 2835.77 1/1 99 108 0 108 1.0 intronic rs4902492 PLEKHH1 AU NM_020715 exon18 c.35434-13C>T 0.946286 0.8601 0.978928 0.9855 0.8624 Uncertain 14_68045840_-->TTCT 14 68045840 68045840 - TTCT indel 15363.7 1/1 99 208 0 208 1.0 intronic rs10635755 PLEKHH1 AU NM_020715 exon21 c.37266-10insTTCT 0.762061 0.7860 0.6135 Uncertain 14_68045935_G->A 14 68045935 68045935 G A snp 3639.77 1/1 99 133 0 133 1.0 exonic rs6573781 PLEKHH1 AU synonymous SNV NM_020715 exon21 c.G2934A p.S978S 0.646965 0.503 0.747825 0.7531 0.5265 Uncertain 14_68046602_C->T 14 68046602 68046602 C T snp 2625.77 1/1 99 87 0 87 1.0 intronic rs6573782 PLEKHH1 AU NM_020715 exon22 c.38009+9C>T 0.211062 0.246 0.224728 0.2907 0.2612 Uncertain 14_68053149_A->G 14 68053149 68053149 A G snp 2313.77 1/1 99 78 0 78 1.0 intronic rs749271 PLEKHH1 AU NM_020715 exon28 c.44230+335A>G 0.392572 0.4077 0.4518 0.3882 0.24 T 0.0 P -0.926 T 0.0 T 0.0 T Uncertain 14_68053977_A->C 14 68053977 68053977 A C snp 4436.77 1/1 99 159 0 159 1.0 UTR3 rs6573783 PLEKHH1 AU 0.988219 1 0.992532 0.9975 1 1 T 0.0 P -0.956 T 0.0 T 0.0 T Uncertain 14_68066979_C->T 14 68066979 68066979 C T snp 1873.77 1/1 99 70 0 70 1.0 UTR5 rs7154825 PIGH AU 0.946486 1 Uncertain 14_68087407_T->C 14 68087407 68087407 T C snp 108.77 0/1 99 7 3 4 0.57 intronic rs1885042 ARG2 AU NM_001172 exon2 c.916-203T>C 0.395367 0.4524 Uncertain 14_68087820_G->A 14 68087820 68087820 G A snp 43.77 0/1 70 5 3 2 0.4 intronic rs3742878 ARG2 AU NM_001172 exon2 c.989+137G>A 0.497404 0.4514 Uncertain 14_68113293_G->A 14 68113293 68113293 G A snp 1181.77 0/1 99 113 63 50 0.44 intronic rs742869 ARG2 AU NM_001172 exon5 c.26666-67G>A 0.326877 0.2966 Uncertain 14_68118132_C->T 14 68118132 68118132 C T snp 1629.77 0/1 99 137 72 65 0.47 exonic rs15493 VTI1B AU synonymous SNV NM_006370 exon6 c.G669A p.L223L 0.138578 0.2312 0.076426 0.0862 0.2432 1.0 P Uncertain 14_68118364_G->T 14 68118364 68118364 G T snp 199.77 0/1 99 17 10 7 0.41 UTR3 rs1804799 ARG2 AU 0.137181 0.2312 Uncertain 14_68191110_TT->- 14 68191110 68191111 TT - indel 548.7 0/1 99 66 23 43 0.65 intronic rs143710130 RDH12 AR NM_152443 exon4 c.1830-79_1830-78delTT 0.301717 0.2302 Uncertain 14_68191368_G->A 14 68191368 68191368 G A snp 1367.77 1/1 99 48 0 48 1.0 intronic rs61991867 RDH12 AR NM_152443 exon4 c.1949+60G>A 0.473243 0.5476 Uncertain 14_68192653_G->C 14 68192653 68192653 G C snp 811.77 1/1 60 21 0 21 1.0 intronic rs7156725 RDH12 AR NM_152443 exon6 c.3408-114G>C 0.929313 1 Uncertain 14_68196636_C->T 14 68196636 68196636 C T snp 887.77 1/1 69 27 0 27 1.0 intronic rs718212 RDH12 AR NM_152443 exon8 c.6738+539C>T 0.455671 0.5476 Uncertain 14_68200383_C->A 14 68200383 68200383 C A snp 341.77 0/1 99 51 35 16 0.31 intronic rs61991869 RDH12 AR NM_152443 exon9 c.11103-79C>A 0.0407348 Uncertain 14_68219200_C->T 14 68219200 68219200 C T snp 978.77 0/1 99 69 31 38 0.55 exonic rs34373049 ZFYVE26 AR nonsynonymous SNV NM_015346 exon40 c.G7232A p.R2411H 0.00958466 0.031063 0.0293 0.0002 0.17 T 1 D -1.147 T 0.987 D 0.511 D Pathogenic 14_68228790_A->T 14 68228790 68228790 A T snp 632.77 1/1 48 16 0 16 1.0 intronic rs8012365 ZFYVE26 AR NM_015346 exon9 c.13767-129A>T 0.961861 0.999 Uncertain 14_68234539_T->C 14 68234539 68234539 T C snp 5565.77 1/1 99 195 0 195 1.0 exonic rs3742883 ZFYVE26 AR nonsynonymous SNV NM_015346 exon31 c.A5672G p.N1891S 0.903155 0.8562 0.941719 0.9546 0.8599 1 T 0.0 P -1.001 T 0.0 T 0.001 T CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000118901.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 14_68236522_G->A 14 68236522 68236522 G A snp 426.77 0/1 99 40 25 15 0.38 intronic rs2295111 ZFYVE26 AR NM_015346 exon14 c.21295+75G>A 0.310104 0.3224 Uncertain 14_68236672_G->A 14 68236672 68236672 G A snp 56.74 1/1 6 2 0 2 1.0 intronic rs932474 ZFYVE26 AR NM_015346 exon14 c.21295+225G>A 0.903155 0.8562 Uncertain 14_68238687_T->C 14 68238687 68238687 T C snp 182.9 1/1 15 5 0 5 1.0 intronic rs1474796 ZFYVE26 AR NM_015346 exon15 c.23611-76T>C 0.967652 1 Uncertain 14_68241611_A->G 14 68241611 68241611 A G snp 126.03 1/1 12 4 0 4 1.0 intronic rs11158695 ZFYVE26 AR NM_015346 exon16 c.26580-121A>G 0.687899 0.9256 Uncertain 14_68241649_AAA->- 14 68241649 68241651 AAA - indel 304.75 1/1 24 8 0 8 1.0 intronic rs141953477 ZFYVE26 AR NM_015346 exon16 c.26580-83_26580-81delAAA 0.779553 0.9702 Uncertain 14_68242898_G->A 14 68242898 68242898 G A snp 484.77 1/1 36 19 0 19 1.0 intronic rs12886915 ZFYVE26 AR NM_015346 exon17 c.27671+75G>A 0.687899 0.9256 Uncertain 14_68244202_C->T 14 68244202 68244202 C T snp 301.78 1/1 24 8 0 8 1.0 intronic rs767972 ZFYVE26 AR NM_015346 exon18 c.29123-73C>T 0.687899 0.9256 Uncertain 14_68246855_T->A 14 68246855 68246855 T A snp 1662.77 1/1 99 60 1 59 0.98 intronic rs2295106 ZFYVE26 AR NM_015346 exon20 c.31805-102T>A 0.762181 0.9722 Uncertain 14_68246876_C->T 14 68246876 68246876 C T snp 2206.77 1/1 99 77 0 77 1.0 intronic rs2295107 ZFYVE26 AR NM_015346 exon20 c.31805-81C>T 0.762181 0.9722 Uncertain 14_68248281_C->T 14 68248281 68248281 C T snp 1290.77 1/1 93 46 0 46 1.0 intronic rs2235962 ZFYVE26 AR NM_015346 exon21 c.33094+35C>T 0.658946 0.8482 0.565431 0.6681 0.8552 Uncertain 14_68257352_T->A 14 68257352 68257352 T A snp 816.77 0/1 99 68 35 33 0.49 exonic rs17192170 ZFYVE26 AR nonsynonymous SNV NM_015346 exon15 c.A2692T p.T898S 0.0429313 0.088728 0.0903 0.0007 0.89 T 0.295 P -1.034 T 0.08 T 0.027 T Pathogenic 14_68264867_A->G 14 68264867 68264867 A G snp 5399.77 1/1 99 195 0 195 1.0 exonic rs12891164 ZFYVE26 AR synonymous SNV NM_015346 exon11 c.T2112C p.P704P 0.771166 0.9722 0.655390 0.7112 0.9777 Uncertain 14_68265484_G->A 14 68265484 68265484 G A snp 59.74 1/1 6 3 0 3 1.0 intronic rs7160083 ZFYVE26 AR NM_015346 exon32 c.50187+145G>A 0.466454 0.6726 Uncertain 14_68273430_A->G 14 68273430 68273430 A G snp 1300.77 1/1 93 43 0 43 1.0 intronic rs181576 ZFYVE26 AR NM_015346 exon37 c.58240+38A>G 0.781749 0.9722 0.665462 0.7130 0.9776 Uncertain 14_68273579_C->T 14 68273579 68273579 C T snp 50.74 1/1 6 2 0 2 1.0 intronic rs181575 ZFYVE26 AR NM_015346 exon37 c.58240+187C>T 0.60643 0.8492 Uncertain 14_68274020_C->G 14 68274020 68274020 C G snp 946.77 1/1 69 31 0 31 1.0 intronic rs181572 ZFYVE26 AR NM_015346 exon38 c.58962-94C>G 0.645367 0.8492 Uncertain 14_68276125_C->A 14 68276125 68276125 C A snp 128.03 1/1 12 4 0 4 1.0 intronic rs71425359 ZFYVE26 AR NM_015346 exon39 c.60854+119C>A 0.490815 0.5883 Uncertain 14_68331675_A->T 14 68331675 68331675 A T snp 645.77 1/1 51 21 0 21 1.0 intronic rs1474939 RAD51B AU NM_133509 exon5 c.41459-44A>T 0.9998 1 Uncertain 14_68773297_C->- 14 68773297 68773297 C - indel 3854.73 0/1 99 249 134 115 0.46 intronic rs3837659 RAD51B AU NM_133509 exon8 c.468437+14600delC 0.441494 0.4484 Uncertain 14_68773298_C->G 14 68773298 68773298 C G snp 2620.77 0/1 99 245 136 109 0.44 intronic rs60593979 RAD51B AU NM_133509 exon8 c.468437+14601C>G 0.441494 0.4484 Uncertain 14_68773353_G->A 14 68773353 68773353 G A snp 2029.77 0/1 99 172 91 81 0.47 intronic rs2180770 RAD51B AU NM_133509 exon8 c.468437+14656G>A 0.442292 0.4494 0.510290 0.5775 0.4193 Uncertain 14_68773469_A->G 14 68773469 68773469 A G snp 285.77 0/1 99 33 21 12 0.36 intronic rs3784104 RAD51B AU NM_133509 exon8 c.468437+14772A>G 0.49361 0.4494 Uncertain 14_68878038_A->G 14 68878038 68878038 A G snp 37.77 0/1 64 4 2 2 0.5 intronic rs10146321 RAD51B AU NM_133509 exon9 c.587880-102A>G 0.282348 0.4702 Uncertain 14_68878369_C->A 14 68878369 68878369 C A snp 702.77 1/1 51 24 0 24 1.0 intronic rs10146772 RAD51B AU NM_133509 exon9 c.587984+125C>A 0.456669 0.505 Uncertain 14_68935112_G->A 14 68935112 68935112 G A snp 54.74 1/1 6 2 0 2 1.0 intronic rs2074563 RAD51B AU NM_133509 exon10 c.644707+145G>A 0.434505 0.5337 Uncertain 14_68935759_G->C 14 68935759 68935759 G C snp 750.77 0/1 99 66 33 33 0.5 intronic rs10144394 RAD51B AU NM_133509 exon10 c.644707+792G>C 0.0860623 0.0476 Uncertain 14_68935789_T->C 14 68935789 68935789 T C snp 1735.77 1/1 99 63 0 63 1.0 intronic rs2525505 RAD51B AU NM_133509 exon10 c.644707+822T>C 0.996406 1 0.997558 0.9993 1 Uncertain 14_68944245_T->C 14 68944245 68944245 T C snp 141.03 1/1 12 4 0 4 1.0 intronic rs5004090 RAD51B AU NM_133510 exon11 c.654104-119T>C 0.419129 0.5347 Uncertain 14_69012355_C->G 14 69012355 69012355 C G snp 1037.77 0/1 99 133 86 47 0.35 intronic rs2525529 RAD51B AU NM_002877 exon11 c.674338+47757C>G 0.861821 0.9157 0.9569 0.8864 Uncertain 14_69077688_G->A 14 69077688 69077688 G A snp 455.77 0/1 99 40 22 18 0.45 intergenic rs17834971 RAD51B AU 0.145966 0.2302 0.1353 0.2290 Uncertain 14_69077699_T->A 14 69077699 69077699 T A snp 383.77 0/1 99 46 28 18 0.39 intergenic rs56104115 RAD51B AU 0.15595 0.2302 0.1367 0.2361 Uncertain 14_69117387_A->G 14 69117387 69117387 A G snp 671.77 0/1 99 77 43 34 0.44 intergenic rs8021657 RAD51B AU 0.527556 0.2956 Uncertain 14_69117512_T->C 14 69117512 69117512 T C snp 865.77 0/1 99 95 58 37 0.39 intergenic rs8023214 RAD51B AU 0.528554 0.2956 0.620684 0.5641 0.2928 0.3 T 0.0 P -1.015 T 0.001 T 0.001 T Uncertain 14_69259461_G->C 14 69259461 69259461 G C snp 74.77 0/1 99 10 6 4 0.4 intronic rs2295751 ZFP36L1 AU NM_004926 exon2 c.3349-137G>C 0.195288 0.5139 Uncertain 14_69262441_A->G 14 69262441 69262441 A G snp 358.77 0/1 99 40 24 16 0.4 intergenic rs3742887 ZFP36L1 AU 0.714856 0.8165 Uncertain 14_69263074_G->A 14 69263074 69263074 G A snp 256.77 0/1 99 23 12 11 0.48 intergenic rs6573857 ZFP36L1 AU 0.71266 0.8125 Uncertain 14_69328441_A->G 14 69328441 69328441 A G snp 949.77 0/1 99 73 33 40 0.55 intergenic rs393673 ZFP36L1 AU 0.701478 0.5585 Uncertain 14_69328594_G->A 14 69328594 69328594 G A snp 2496.77 0/1 99 237 132 105 0.44 intergenic rs412638 ZFP36L1 AU 0.690296 0.5585 Uncertain 14_69328613_C->T 14 69328613 69328613 C T snp 2246.77 0/1 99 233 133 100 0.43 intergenic rs440689 ZFP36L1 AU 0.689896 0.5585 Uncertain 14_69329116_T->C 14 69329116 69329116 T C snp 165.77 0/1 99 24 17 7 0.29 intergenic rs424806 ZFP36L1 AU 0.620407 0.5585 Uncertain 14_69329149_C->T 14 69329149 69329149 C T snp 1334.77 1/1 96 43 0 43 1.0 intergenic rs1742501 ZFP36L1 AU 0.861022 0.9583 Uncertain 14_69341906_G->A 14 69341906 69341906 G A snp 757.77 0/1 99 70 39 31 0.44 intronic rs41285480 ACTN1 AD NM_001130005 exon1 c.159+172G>A 0.217851 0.4544 0.1930 0.4919 Uncertain 14_69341912_A->G 14 69341912 69341912 A G snp 707.77 0/1 99 64 34 30 0.47 intronic rs2070278 ACTN1 AD NM_001130005 exon1 c.159+178A>G 0.121406 0.4097 0.0693 0.4272 Uncertain 14_69345647_C->T 14 69345647 69345647 C T snp 1856.77 0/1 99 149 71 78 0.52 intronic rs12586591 ACTN1 AD NM_001130004 exon4 c.4130-58C>T 0.218051 0.1776 0.186159 0.2355 0.1735 Uncertain 14_69349054_T->C 14 69349054 69349054 T C snp 78.77 0/1 69 5 2 3 0.6 intronic rs181464 ACTN1 AD NM_001130005 exon6 c.7599-120T>C 0.554712 0.3671 Uncertain 14_69352230_G->A 14 69352230 69352230 G A snp 1107.77 0/1 99 115 60 55 0.48 exonic rs15993 ACTN1 AD synonymous SNV NM_001130004 exon12 c.C1297T p.L433L 0.231629 0.1796 0.183608 0.2384 0.1711 Uncertain 14_69360631_T->C 14 69360631 69360631 T C snp 38.78 0/1 27 3 1 2 0.67 intronic rs12050161 ACTN1 AD NM_001130005 exon13 c.18889+167T>C 0.247804 0.2232 Uncertain 14_69376199_A->T 14 69376199 69376199 A T snp 1625.77 0/1 99 144 65 79 0.55 intronic rs1983701 ACTN1 AD NM_001130005 exon16 c.34538+86A>T 0.314696 0.6171 Uncertain 14_69376334_T->C 14 69376334 69376334 T C snp 192.77 0/1 99 10 4 6 0.6 intronic rs729725 ACTN1 AD NM_001130005 exon16 c.34538+221T>C 0.491414 0.7143 Uncertain 14_69376479_A->G 14 69376479 69376479 A G snp 168.9 1/1 15 5 0 5 1.0 intronic rs743127 ACTN1 AD NM_001130005 exon17 c.35096-192A>G 0.729233 0.9425 Uncertain 14_69376623_G->A 14 69376623 69376623 G A snp 618.77 0/1 99 60 33 27 0.45 intronic rs3742891 ACTN1 AD NM_001130005 exon17 c.35096-48G>A 0.318291 0.6171 0.142242 0.2055 0.6298 Uncertain 14_69376658_A->C 14 69376658 69376658 A C snp 2256.77 1/1 99 82 0 82 1.0 intronic rs743128 ACTN1 AD NM_001130005 exon17 c.35096-13A>C 0.878395 0.996 0.747655 0.7694 0.9981 Uncertain 14_69376775_T->C 14 69376775 69376775 T C snp 719.77 0/1 99 57 29 28 0.49 intronic rs872810 ACTN1 AD NM_001130005 exon17 c.35184+16T>C 0.31889 0.6181 0.142396 0.2070 0.6273 Uncertain 14_69376810_G->A 14 69376810 69376810 G A snp 408.77 0/1 99 28 13 15 0.54 intronic rs3742893 ACTN1 AD NM_001130005 exon17 c.35184+51G>A 0.310503 0.6171 0.131170 0.2024 0.6240 Uncertain 14_69376847_T->C 14 69376847 69376847 T C snp 149.77 0/1 99 11 5 6 0.55 intronic rs872809 ACTN1 AD NM_001130005 exon17 c.35184+88T>C 0.31869 0.6171 Uncertain 14_69378698_C->T 14 69378698 69378698 C T snp 270.77 0/1 99 14 6 8 0.57 intronic rs2180458 ACTN1 AD NM_001130005 exon18 c.37297-174C>T 0.31869 0.6161 Uncertain 14_69378863_A->G 14 69378863 69378863 A G snp 2270.77 0/1 99 250 153 97 0.39 intronic rs2070280 ACTN1 AD NM_001130005 exon18 c.37297-9A>G 0.319089 0.6161 0.142780 0.2060 0.6265 Uncertain 14_69379053_A->G 14 69379053 69379053 A G snp 842.77 0/1 99 60 30 30 0.5 intronic rs4243631 ACTN1 AD NM_001130005 exon18 c.37384+94A>G 0.31889 0.6161 Uncertain 14_69392059_A->T 14 69392059 69392059 A T snp 52.74 1/1 6 2 0 2 1.0 intronic rs8014317 ACTN1 AD NM_001130005 exon20 c.50699-215A>T Uncertain 14_69392264_T->G 14 69392264 69392264 T G snp 5838.77 1/1 99 208 1 207 1.0 intronic rs4899272 ACTN1 AD NM_001130005 exon20 c.50699-10T>G 0.803115 0.9851 0.642857 0.7103 0.9873 Uncertain 14_69392445_G->A 14 69392445 69392445 G A snp 1325.77 0/1 99 123 67 56 0.46 intronic rs3742897 ACTN1 AD NM_001130005 exon20 c.50814+56G>A 0.166733 0.2302 Uncertain 14_69444517_-->CCC 14 69444517 69444517 - CCC indel 384.74 1/1 27 9 0 9 1.0 intronic rs35512297 ACTN1 AD NM_001130005 exon21 c.104093-1151insCCC Uncertain 14_69445118_C->T 14 69445118 69445118 C T snp 857.77 1/1 63 25 0 25 1.0 intronic rs1983700 ACTN1 AD NM_001130005 exon21 c.104093-550C>T 0.757388 0.9444 Uncertain 14_69445646_A->G 14 69445646 69445646 A G snp 219.84 1/1 18 8 0 8 1.0 intronic rs4902685 ACTN1 AD NM_001130005 exon21 c.104093-22A>G 0.964133 0.9735 0.9997 Uncertain 14_69445858_-->GGGCT 14 69445858 69445858 - GGGCT indel 2605.73 1/1 99 71 0 71 1.0 UTR5 rs145260230 ACTN1 AD 0.440495 0.8224 Uncertain 14_69558678_T->C 14 69558678 69558678 T C snp 96.28 1/1 9 3 0 3 1.0 intronic rs10143664 DCAF5 AU NM_001284207 exon4 c.38031+74T>C 0.970647 0.999 Uncertain 14_69695792_G->A 14 69695792 69695792 G A snp 2121.77 1/1 99 70 0 70 1.0 splicing rs3742899 EXD2 AU NM_018199 exon2 c.215+3G>A 0.78095 0.9385 0.665770 0.6931 0.9347 Pathogenic 14_69703158_A->G 14 69703158 69703158 A G snp 2065.77 1/1 99 78 0 78 1.0 exonic rs3211166 EXD2 AU synonymous SNV NM_018199 exon6 c.A816G p.L272L 0.434305 0.9067 0.240658 0.3864 0.9164 Uncertain 14_69704553_G->T 14 69704553 69704553 G T snp 2896.77 1/1 99 106 0 106 1.0 exonic rs8007859 EXD2 AU nonsynonymous SNV NM_018199 exon7 c.G1179T p.Q393H 0.804313 0.9345 0.685530 0.7023 0.9315 0.25 T 0.0 P -0.985 T 0.0 T 0.001 T Pathogenic 14_69791308_T->A 14 69791308 69791308 T A snp 1856.77 1/1 99 64 0 64 1.0 intronic rs2045194 GALNT16 AU NM_001168368 exon3 c.64401-100T>A 0.552316 0.5903 Uncertain 14_69795199_G->A 14 69795199 69795199 G A snp 1578.77 0/1 99 148 82 66 0.45 exonic rs12879377 GALNT16 AU nonsynonymous SNV NM_001168368 exon6 c.G601A p.V201M 0.175519 0.1329 0.286483 0.2937 0.1193 0.24 T 0.856 P -0.950 T 0.476 P 0.039 P Pathogenic 14_69799892_A->G 14 69799892 69799892 A G snp 2625.77 1/1 99 91 0 91 1.0 splicing rs1275677 GALNT16 AU NM_001168368 exon8 c.72879+6A>G 0.508387 0.3621 0.593572 0.5284 0.3656 Pathogenic 14_69800014_T->C 14 69800014 69800014 T C snp 174.9 1/1 15 6 0 6 1.0 intronic rs1298730 GALNT16 AU NM_001168368 exon8 c.72879+128T>C 0.420727 0.3631 Uncertain 14_69806025_C->T 14 69806025 69806025 C T snp 84.28 1/1 9 3 0 3 1.0 intronic rs1275682 GALNT16 AU NM_001168368 exon11 c.79236-218C>T 0.657947 0.4355 Uncertain 14_69806055_A->T 14 69806055 69806055 A T snp 164.77 0/1 99 16 10 6 0.38 intronic rs1275683 GALNT16 AU NM_001168368 exon11 c.79236-188A>T 0.255192 0.129 Uncertain 14_69808627_G->C 14 69808627 69808627 G C snp 329.77 0/1 99 17 6 11 0.65 intronic rs1275685 GALNT16 AU NM_001168368 exon12 c.81474+146G>C 0.251597 0.131 Uncertain 14_69813678_A->G 14 69813678 69813678 A G snp 1156.77 0/1 99 107 54 53 0.5 intronic rs11625928 GALNT16 AU NM_001168368 exon13 c.86749-78A>G 0.191494 0.2748 Uncertain 14_69818599_C->A 14 69818599 69818599 C A snp 216.77 0/1 99 12 5 7 0.58 intronic rs35286134 GALNT16 AU NM_001168368 exon15 c.91740-148C>A 0.199481 0.0536 Uncertain 14_69861688_A->- 14 69861688 69861688 A - indel 328.73 0/1 99 46 24 22 0.48 intronic rs3837663 ERH AU NM_004450 exon3 c.14375+59delA 0.136382 0.1409 0.216192 Uncertain 14_69922552_T->C 14 69922552 69922552 T C snp 1926.77 0/1 99 149 65 84 0.56 exonic rs2232059 SLC39A9 AU nonsynonymous SNV NM_001252148 exon5 c.T593C p.M198T 0.0285543 0.1369 0.001153 0.0101 0.1289 0.11 T 1.000 P -1.103 T 0.004 T 0.005 T Pathogenic 14_69925066_C->T 14 69925066 69925066 C T snp 1796.77 0/1 99 183 95 88 0.48 intronic rs8022178 SLC39A9 AU NM_001252152 exon8 c.16145-13C>T 0.0115815 0.0159 0.006151 0.0138 0.0207 Uncertain 14_69988954_T->G 14 69988954 69988954 T G snp 4686.77 1/1 99 168 0 168 1.0 intronic rs10146531 PLEKHD1 AU NM_001161498 exon7 c.37317-45T>G 0.991813 0.997 0.992554 0.9949 0.9887 Uncertain 14_69992873_A->G 14 69992873 69992873 A G snp 833.77 1/1 63 22 0 22 1.0 intronic rs8004574 PLEKHD1 AU NM_001161498 exon9 c.41157+34A>G 0.929912 0.9871 0.946124 0.9134 0.9932 Uncertain 14_69994473_C->G 14 69994473 69994473 C G snp 3018.77 1/1 99 105 0 105 1.0 intronic rs1885400 PLEKHD1 AU NM_001161498 exon12 c.42817-26C>G 0.999601 1 0.9998 1 Uncertain 14_70037611_A->T 14 70037611 70037611 A T snp 5604.77 1/1 99 214 0 214 1.0 UTR3 rs7494244 CCDC177 AU 0.720248 0.7798 0.743758 0.7290 0.7912 0 D -1.052 T Uncertain 14_70234339_G->A 14 70234339 70234339 G A snp 840.77 0/1 99 78 41 37 0.47 ncRNA_exonic rs577836572 LOC100289511 AU Uncertain 14_70346689_C->T 14 70346689 70346689 C T snp 133.03 1/1 12 4 0 4 1.0 intronic rs56307916 SMOC1 AR NM_022137 exon1 c.99+195C>T 0.585264 0.9494 Uncertain 14_70418881_G->A 14 70418881 70418881 G A snp 2872.77 0/1 99 249 133 116 0.47 exonic rs3742909 SMOC1 AR synonymous SNV NM_001034852 exon2 c.G126A p.Q42Q 0.217053 0.375 0.187221 0.2497 0.3833 Uncertain 14_70459370_T->C 14 70459370 70459370 T C snp 44.74 1/1 6 2 0 2 1.0 intronic rs227419 SMOC1 AR NM_022137 exon6 c.112795+180T>C 0.546526 0.4325 Uncertain 14_70477508_C->T 14 70477508 70477508 C T snp 1037.77 0/1 99 88 41 47 0.53 exonic rs3825739 SMOC1 AR synonymous SNV NM_001034852 exon8 c.C702T p.A234A 0.205671 0.4196 0.136783 0.2013 0.4095 Uncertain 14_70477695_C->T 14 70477695 70477695 C T snp 292.77 0/1 51 14 2 12 0.86 intronic rs34311408 SMOC1 AR NM_022137 exon8 c.131268+32C>T 0.205671 0.4196 0.136496 0.2041 0.4123 Uncertain 14_70478175_A->T 14 70478175 70478175 A T snp 1310.77 0/1 99 155 95 60 0.39 intronic rs59684948 SMOC1 AR NM_022137 exon9 c.131806-26A>T 0.000599042 0.001 Uncertain 14_70478176_C->- 14 70478176 70478176 C - indel 1531.73 0/1 99 155 88 67 0.43 intronic rs61674022 SMOC1 AR NM_022137 exon9 c.131806-25delC 0.231230 1.718e-05 0.0003 Uncertain 14_70478183_C->A 14 70478183 70478183 C A snp 1392.77 0/1 99 163 99 64 0.39 intronic rs57609901 SMOC1 AR NM_022137 exon9 c.131806-18C>A 0.205671 0.4196 0.010149 0.2007 0.4086 Uncertain 14_70496867_C->T 14 70496867 70496867 C T snp 1102.77 0/1 99 81 40 41 0.51 intronic rs227402 SMOC1 AR NM_001034852 exon12 c.150563-91C>T 0.552117 0.499 0.540825 Uncertain 14_70513194_G->A 14 70513194 70513194 G A snp 41.77 0/1 70 4 2 2 0.5 intronic rs7142759 SLC8A3 AU NM_182932 exon1 c.377+154G>A 0.36222 0.4583 Uncertain 14_70518587_G->A 14 70518587 70518587 G A snp 71.77 0/1 99 10 7 3 0.3 intronic rs8014694 SLC8A3 AU NM_182932 exon4 c.6043-119G>A 0.13778 0.3948 Uncertain 14_70522684_A->C 14 70522684 70522684 A C snp 1055.77 0/1 99 72 30 42 0.58 intronic rs10142899 SLC8A3 AU NM_058240 exon5 c.9867+154A>C 0.416534 0.4653 Uncertain 14_70530566_C->T 14 70530566 70530566 C T snp 622.77 0/1 99 58 28 30 0.52 exonic rs77756572 SLC8A3 AU nonsynonymous SNV NM_033262 exon3 c.G1865A p.R622H 0.0071885 0.0347 0.000154 0.0022 0.0298 0.31 T 0.999 D -1.126 T 0.403 T 0.054 T Pathogenic 14_70530706_C->G 14 70530706 70530706 C G snp 198.77 0/1 99 11 4 7 0.64 intronic rs150956 SLC8A3 AU NM_033262 exon6 c.17983+60C>G 0.682508 0.4722 Uncertain 14_70634087_A->G 14 70634087 70634087 A G snp 5583.77 1/1 99 202 0 202 1.0 exonic rs2114024 SLC8A3 AU synonymous SNV NM_033262 exon2 c.T1053C p.R351R 0.992812 1 0.992388 0.9977 1 Uncertain 14_70697154_G->A 14 70697154 70697154 G A snp 1853.77 0/1 99 174 91 83 0.48 intergenic rs41350744 SLC8A3 AU 0.333067 0.1667 Uncertain 14_70712325_A->- 14 70712325 70712325 A - indel 315.9 1/1 14 14 1 13 0.93 downstream rs398077850 ADAM21P1 AU 0.945288 0.994 Uncertain 14_70712880_A->C 14 70712880 70712880 A C snp 7220.77 1/1 99 250 0 250 1.0 ncRNA_exonic rs2296918 ADAM21P1 AU 0.882588 0.9048 0.8898 0.9043 Uncertain 14_70713156_G->A 14 70713156 70713156 G A snp 3534.77 0/1 99 250 120 130 0.52 ncRNA_exonic rs11629177 ADAM21P1 AU 0.336861 0.1677 0.4371 0.1465 Uncertain 14_70713858_T->C 14 70713858 70713858 T C snp 2474.77 0/1 99 245 138 107 0.44 ncRNA_exonic rs61979492 ADAM21P1 AU 0.4340 0.6380 Uncertain 14_70713992_C->A 14 70713992 70713992 C A snp 434.77 0/1 99 48 27 21 0.44 ncRNA_exonic rs4902799 ADAM21P1 AU 0.473442 0.6062 Uncertain 14_70714027_A->T 14 70714027 70714027 A T snp 285.77 0/1 99 19 10 9 0.47 ncRNA_exonic rs28562608 ADAM21P1 AU 0.366414 0.1647 Uncertain 14_70714028_C->G 14 70714028 70714028 C G snp 222.77 0/1 99 17 10 7 0.41 ncRNA_exonic rs28597838 ADAM21P1 AU 0.366414 0.1647 Uncertain 14_70714162_A->G 14 70714162 70714162 A G snp 774.77 1/1 60 22 0 22 1.0 ncRNA_exonic rs4899340 ADAM21P1 AU 0.834465 0.9038 Uncertain 14_70714172_T->C 14 70714172 70714172 T C snp 875.77 1/1 66 28 0 28 1.0 ncRNA_exonic rs4899341 ADAM21P1 AU 0.749201 0.7212 Uncertain 14_70793004_A->G 14 70793004 70793004 A G snp 127.03 1/1 12 5 0 5 1.0 UTR3 rs4749 COX16 AU 0.767772 0.9325 0.766220 0.7525 0.9300 Uncertain 14_70795769_T->A 14 70795769 70795769 T A snp 99.28 1/1 9 3 0 3 1.0 intronic rs56128802 COX16 AU NM_016468 exon2 c.2841-121T>A 0.889177 0.9385 Uncertain 14_70839635_C->A 14 70839635 70839635 C A snp 700.77 0/1 99 74 43 31 0.42 UTR3 rs3742916 SYNJ2BP AU 0.029353 0.119 Uncertain 14_70924072_A->G 14 70924072 70924072 A G snp 31.77 0/1 60 4 2 2 0.5 UTR5 rs4143920 ADAM21 AU 0.30631 0.5268 Uncertain 14_70924237_C->A 14 70924237 70924237 C A snp 151.77 0/1 99 64 48 16 0.25 exonic rs3751520 ADAM21 AU synonymous SNV NM_003813 exon2 c.C21A p.L7L 0.374601 0.3452 0.2560 0.2712 Uncertain 14_70924249_A->G 14 70924249 70924249 A G snp 1622.77 1/1 99 70 0 70 1.0 exonic rs3751521 ADAM21 AU synonymous SNV NM_003813 exon2 c.A33G p.R11R 0.648363 0.8671 0.373154 0.4623 0.8721 Uncertain 14_70924450_C->T 14 70924450 70924450 C T snp 504.77 0/1 99 38 14 24 0.63 exonic rs58247196 ADAM21 AU synonymous SNV NM_003813 exon2 c.C234T p.V78V 0.3772 0.3599 Uncertain 14_70924462_A->G 14 70924462 70924462 A G snp 368.77 0/1 99 29 12 17 0.59 exonic rs3751523 ADAM21 AU synonymous SNV NM_003813 exon2 c.A246G p.L82L 0.805628 0.8390 0.5398 Uncertain 14_70924501_C->G 14 70924501 70924501 C G snp 665.03 1/1 12 27 3 24 0.89 exonic rs8010994 ADAM21 AU nonsynonymous SNV NM_003813 exon2 c.C285G p.D95E 0.6981 0.6112 0.29 T 0.0 P -1.057 T 0.0 T 0.001 T Pathogenic 14_70924566_C->G 14 70924566 70924566 C G snp 838.77 0/1 99 75 46 29 0.39 exonic rs3829452 ADAM21 AU nonsynonymous SNV NM_003813 exon2 c.C350G p.A117G 0.370208 0.5734 0.2414 0.5533 1 T 0.0 P -0.933 T 0.0 T 0.0 T Pathogenic 14_70924567_A->T 14 70924567 70924567 A T snp 847.77 0/1 99 77 47 30 0.39 exonic rs3829453 ADAM21 AU synonymous SNV NM_003813 exon2 c.A351T p.A117A 0.370208 0.5734 0.079308 0.2411 0.5513 Uncertain 14_70924693_T->C 14 70924693 70924693 T C snp 1720.77 0/1 99 220 138 82 0.37 exonic rs45480894 ADAM21 AU synonymous SNV NM_003813 exon2 c.T477C p.Y159Y 0.255791 0.505 0.006620 0.0611 0.2614 Uncertain 14_70924696_G->A 14 70924696 70924696 G A snp 1703.77 0/1 99 222 140 82 0.37 exonic rs77892318 ADAM21 AU synonymous SNV NM_003813 exon2 c.G480A p.K160K 0.250399 0.496 0.0449 0.1892 Uncertain 14_70924697_A->G 14 70924697 70924697 A G snp 1705.77 0/1 99 223 141 82 0.37 exonic rs45545935 ADAM21 AU nonsynonymous SNV NM_003813 exon2 c.A481G p.I161V 0.250399 0.496 0.0445 0.1836 0.3 T 1 N -0.905 T 0.002 T 0.002 T Pathogenic 14_70924852_A->C 14 70924852 70924852 A C snp 1355.77 0/1 99 200 126 74 0.37 exonic rs3829455 ADAM21 AU synonymous SNV NM_003813 exon2 c.A636C p.L212L 0.440695 0.3512 0.360277 0.4255 0.3094 Uncertain 14_70924955_A->C 14 70924955 70924955 A C snp 3266.77 0/1 99 250 127 123 0.49 exonic rs114864695 ADAM21 AU nonsynonymous SNV NM_003813 exon2 c.A739C p.K247Q 0.275759 0.5218 0.1671 0.5392 0.68 T 0.0 P -0.933 T 0.005 T 0.01 T Pathogenic 14_70925257_A->G 14 70925257 70925257 A G snp 2500.77 1/1 99 123 0 123 1.0 exonic rs12436346 ADAM21 AU synonymous SNV NM_003813 exon2 c.A1041G p.L347L 0.972641 0.9930 0.9999 Uncertain 14_70925818_T->C 14 70925818 70925818 T C snp 3848.77 1/1 99 173 0 173 1.0 exonic rs2022624 ADAM21 AU synonymous SNV NM_003813 exon2 c.T1602C p.N534N 0.743011 0.873 0.5624 0.8566 Uncertain 14_70936714_T->C 14 70936714 70936714 T C snp 1047.77 0/1 99 62 26 36 0.58 ncRNA_exonic rs2293873 ADAM20P1 AU 0.480232 0.5903 Uncertain 14_70936734_C->A 14 70936734 70936734 C A snp 63.77 0/1 92 95 83 12 0.13 ncRNA_exonic rs572382526 ADAM20P1 AU 0.00279553 Uncertain 14_70936840_C->T 14 70936840 70936840 C T snp 572.77 0/1 99 191 143 48 0.25 ncRNA_exonic rs111562158 ADAM20P1 AU 0.4437 0.1951 Uncertain 14_70937121_T->C 14 70937121 70937121 T C snp 1386.77 0/1 99 118 60 58 0.49 ncRNA_exonic rs7152848 ADAM20P1 AU 0.48742 0.6558 0.3013 0.6288 Uncertain 14_70937413_T->A 14 70937413 70937413 T A snp 2243.77 0/1 99 223 129 94 0.42 ncRNA_exonic rs7153448 ADAM20P1 AU 0.489617 0.6558 0.3016 0.6288 Uncertain 14_70937420_T->C 14 70937420 70937420 T C snp 2222.77 0/1 99 226 130 96 0.42 ncRNA_exonic rs7153459 ADAM20P1 AU 0.489617 0.6558 0.3016 0.6288 Uncertain 14_70937494_T->G 14 70937494 70937494 T G snp 5516.77 1/1 99 190 0 190 1.0 ncRNA_exonic rs8015742 ADAM20P1 AU 0.99381 0.9722 0.9979 0.9851 Uncertain 14_70937725_T->C 14 70937725 70937725 T C snp 2435.77 0/1 99 238 131 107 0.45 ncRNA_exonic rs10467821 ADAM20P1 AU 0.489417 0.6558 0.3014 0.6288 Uncertain 14_70937988_G->A 14 70937988 70937988 G A snp 229.77 0/1 99 21 11 10 0.48 ncRNA_exonic rs28473545 ADAM20P1 AU 0.489217 0.6548 Uncertain 14_70991650_A->C 14 70991650 70991650 A C snp 271.77 0/1 99 24 11 13 0.54 UTR5 rs74062730 ADAM20 AU 0.193091 0.4792 0.087696 0.1291 0.4993 Uncertain 14_71050892_A->G 14 71050892 71050892 A G snp 776.77 0/1 99 60 27 33 0.55 UTR3 rs11158867 MED6 AU 0.44389 0.5645 0.351153 0.2930 0.5582 Uncertain 14_71051088_A->G 14 71051088 71051088 A G snp 94.77 0/1 99 13 8 5 0.38 UTR3 rs45523543 MED6 AU 0.19349 0.4821 Uncertain 14_71052278_-->TTTTC 14 71052278 71052278 - TTTTC indel 520.73 0/1 99 15 5 10 0.67 intronic rs112233021 MED6 AU NM_001284210 exon2 c.864-194insTTTTC 0.370607 0.5556 Uncertain 14_71064314_C->T 14 71064314 71064314 C T snp 242.77 0/1 99 29 18 11 0.38 intronic rs1007402 MED6 AU NM_001284210 exon6 c.12726-20C>T 0.442891 0.5635 0.360351 0.2982 0.5567 Uncertain 14_71067157_A->- 14 71067157 71067157 A - indel 147.73 0/1 99 19 9 10 0.53 intronic rs5809489 MED6 AU NM_001284210 exon7 c.15724-175delA Uncertain 14_71109153_C->G 14 71109153 71109153 C G snp 2088.77 0/1 99 200 104 96 0.48 exonic rs4902834 TTC9 AU nonsynonymous SNV NM_015351 exon1 c.C307G p.P103A 0.841653 0.8442 0.869828 0.8611 0.8730 0.35 T 0.0 P -1.007 T 0.001 T 0.0 T Pathogenic 14_71109276_G->T 14 71109276 71109276 G T snp 1254.77 0/1 99 139 80 59 0.42 intronic rs3742852 TTC9 AU NM_015351 exon1 c.406+24G>T 0.515575 0.7113 0.604701 0.4249 0.6980 Uncertain 14_71109352_G->C 14 71109352 71109352 G C snp 760.77 0/1 99 50 20 30 0.6 intronic rs3742851 TTC9 AU NM_015351 exon1 c.406+100G>C 0.0936502 0.0337 Uncertain 14_71137844_G->T 14 71137844 71137844 G T snp 667.77 0/1 99 75 42 33 0.44 exonic rs45621632 TTC9 AU nonsynonymous SNV NM_015351 exon3 c.G641T p.C214F 0.0760783 0.1825 0.031584 0.0498 0.2254 0.7 T 0.999 P -1.008 T 0.997 D 0.825 D Pathogenic 14_71197755_T->G 14 71197755 71197755 T G snp 1130.77 1/1 84 30 0 30 1.0 intronic rs1476610 MAP3K9 AU NM_033141 exon1 c.485+174T>G 0.861222 0.7113 Uncertain 14_71202650_C->T 14 71202650 71202650 C T snp 2839.77 1/1 99 121 1 120 0.99 intronic rs4141095 MAP3K9 AU NM_033141 exon5 c.5581-27C>T 0.860623 0.7093 0.905044 0.8882 0.7307 Uncertain 14_71208996_A->G 14 71208996 71208996 A G snp 778.77 1/1 60 21 0 21 1.0 intronic rs4899368 MAP3K9 AU NM_033141 exon8 c.11971-71A>G 0.872404 0.7867 Uncertain 14_71209025_C->A 14 71209025 71209025 C A snp 1670.77 1/1 99 48 0 48 1.0 intronic rs4902843 MAP3K9 AU NM_033141 exon8 c.11971-42C>A 0.297125 0.3244 0.304398 0.3183 0.3407 Uncertain 14_71215729_G->A 14 71215729 71215729 G A snp 1704.77 1/1 99 68 0 68 1.0 intronic rs10129495 MAP3K9 AU NM_033141 exon9 c.18625+8G>A 0.297324 0.3254 0.304244 0.3152 0.3410 Uncertain 14_71216863_-->AT 14 71216863 71216863 - AT indel 3482.73 1/1 99 67 0 67 1.0 intronic rs10630067 MAP3K9 AU NM_033141 exon10 c.19702+65insAT 0.872804 0.7877 Uncertain 14_71227913_A->C 14 71227913 71227913 A C snp 3500.77 1/1 99 122 0 122 1.0 intronic rs3814872 MAP3K9 AU NM_033141 exon11 c.30803+14A>C 0.872204 0.7877 0.894126 0.8939 0.8180 Uncertain 14_71228000_G->A 14 71228000 71228000 G A snp 1044.77 1/1 78 29 0 29 1.0 intronic rs11621281 MAP3K9 AU NM_033141 exon11 c.30803+101G>A 0.297524 0.3254 Uncertain 14_71275986_C->G 14 71275986 71275986 C G snp 187.77 0/1 99 16 8 8 0.5 upstream rs3742847 MAP3K9 AU 0.00519169 0.0218 Uncertain 14_71444788_G->A 14 71444788 71444788 G A snp 6884.77 1/1 99 250 0 250 1.0 exonic rs3814871 PCNX AU synonymous SNV NM_014982 exon6 c.G1734A p.R578R 0.40635 0.6131 0.359988 0.3713 0.6257 Uncertain 14_71445413_A->G 14 71445413 71445413 A G snp 1485.77 1/1 99 55 0 55 1.0 intronic rs4391999 PCNX AU NM_014982 exon6 c.70798+48A>G 0.417332 0.6141 0.366921 0.3831 0.6271 Uncertain 14_71455540_A->G 14 71455540 71455540 A G snp 4622.77 1/1 99 154 0 154 1.0 intronic rs3829954 PCNX AU NM_014982 exon7 c.80849+124A>G 0.302716 0.3274 Uncertain 14_71462759_T->G 14 71462759 71462759 T G snp 1309.77 1/1 96 36 0 36 1.0 intronic rs56021283 PCNX AU NM_014982 exon8 c.88075+117T>G 0.405551 0.6141 Uncertain 14_71485692_A->T 14 71485692 71485692 A T snp 1033.77 1/1 75 35 0 35 1.0 intronic rs1859914 PCNX AU NM_014982 exon12 c.111158-33A>T 0.996805 1 0.990850 0.9892 0.9999 Uncertain 14_71500796_AGAC->- 14 71500796 71500799 AGAC - indel 500.73 0/1 44 13 1 12 0.92 intronic rs140634782 PCNX AU NM_014982 exon18 c.126186+43_126186+46delAGAC 0.0373403 0.125 0.001284 0.0171 0.1198 Uncertain 14_71513931_G->- 14 71513931 71513931 G - indel 270.77 1/1 21 8 0 8 1.0 intronic rs3217014 PCNX AU NM_014982 exon21 c.139255+109delG 0.40635 0.6131 Uncertain 14_71568683_T->A 14 71568683 71568683 T A snp 93.28 1/1 9 3 0 3 1.0 intronic rs34093157 PCNX AU NM_014982 exon31 c.194139-23T>A 0.40635 0.6141 0.290594 0.4415 0.6876 Uncertain 14_72040525_G->A 14 72040525 72040525 G A snp 506.77 1/1 39 14 0 14 1.0 intronic rs6574016 SIPA1L1 AU 0.889177 0.9355 0.8348 0.9274 Uncertain 14_72055468_A->C 14 72055468 72055468 A C snp 6676.77 1/1 99 227 0 227 1.0 exonic rs1859643 SIPA1L1 AU synonymous SNV NM_015556 exon2 c.A879C p.S293S 0.883387 0.9355 0.812010 0.8164 0.9370 Uncertain 14_72117156_T->C 14 72117156 72117156 T C snp 2359.77 1/1 99 89 0 89 1.0 exonic rs8017465 SIPA1L1 AU synonymous SNV NM_015556 exon5 c.T1923C p.F641F 0.957468 1 0.908042 0.9119 1 Uncertain 14_72431464_A->G 14 72431464 72431464 A G snp 247.77 0/1 60 14 3 11 0.79 intronic rs28678612 RGS6 AU 0.0209665 0.0069 0.020683 0.0062 0.0056 Uncertain 14_72457218_C->G 14 72457218 72457218 C G snp 2544.77 0/1 99 223 120 103 0.46 intronic rs1476745 RGS6 AU NM_001204422 exon2 c.84+25626C>G 0.293331 0.2401 0.4272 0.2692 Uncertain 14_72932302_A->T 14 72932302 72932302 A T snp 39.77 0/1 68 28 23 5 0.18 intronic rs192882130 RGS6 AU NM_001204422 exon7 c.500957-163A>T Uncertain 14_72932306_A->G 14 72932306 72932306 A G snp 144.77 0/1 99 30 23 7 0.23 intronic rs55854917 RGS6 AU NM_001204422 exon7 c.500957-159A>G Uncertain 14_72932310_T->A 14 72932310 72932310 T A snp 119.77 0/1 99 32 26 6 0.19 intronic rs200980600 RGS6 AU NM_001204422 exon7 c.500957-155T>A Uncertain 14_72932330_-->TGGA 14 72932330 72932330 - TGGA indel 2844.73 1/1 99 50 0 50 1.0 intronic rs201958139 RGS6 AU NM_001204422 exon7 c.500957-135insTGGA 0.491014 0.7589 Uncertain 14_72936954_T->C 14 72936954 72936954 T C snp 256.8 1/1 21 7 0 7 1.0 intronic rs8012037 RGS6 AU NM_001204422 exon8 c.505283+163T>C 0.775559 0.9762 Uncertain 14_72939495_C->A 14 72939495 72939495 C A snp 3586.77 1/1 99 122 1 121 0.99 intronic rs10131300 RGS6 AU NM_001204422 exon9 c.508071-84C>A 0.783746 0.9752 Uncertain 14_72944943_T->G 14 72944943 72944943 T G snp 1649.77 1/1 99 64 0 64 1.0 intronic rs2239277 RGS6 AU NM_001204422 exon12 c.513467-32T>G 0.384585 0.6359 0.329975 0.3684 0.6809 Uncertain 14_73014061_T->C 14 73014061 73014061 T C snp 266.77 0/1 99 47 33 14 0.3 intronic rs61299139 RGS6 AU NM_001204417 exon17 c.575294+7259T>C 0.0738818 0.1042 0.0478 0.1136 Uncertain 14_73014163_-->A 14 73014163 73014163 - A indel 117.73 0/1 99 20 14 6 0.3 intronic rs397954883 RGS6 AU NM_001204417 exon17 c.575294+7361insA Uncertain 14_73017126_T->C 14 73017126 73017126 T C snp 904.77 0/1 99 88 47 41 0.47 intronic rs17117326 RGS6 AU NM_001204417 exon17 c.575294+10324T>C 0.0878594 0.1042 0.0496 0.1194 Uncertain 14_73079291_-->AA 14 73079291 73079291 - AA indel 4782.73 1/1 99 112 0 112 1.0 intergenic rs10649920 RGS6 AU 0.732029 0.9911 0.590629 0.5926 0.9883 ID=COSM1317843;OCCURENCE=1(haematopoietic_and_lymphoid_tissue) Uncertain 14_73096614_A->C 14 73096614 73096614 A C snp 141.03 1/1 12 4 0 4 1.0 intronic rs994759 DPF3 AU NM_001280542 exon3 c.10440+170A>C 0.560304 0.8333 Uncertain 14_73138189_C->A 14 73138189 73138189 C A snp 1445.77 0/1 99 133 75 58 0.44 intronic rs1060570 DPF3 AU NM_012074 exon2 c.203+143C>A 0.492212 0.6875 0.413847 0.4562 0.7049 Uncertain 14_73181428_T->G 14 73181428 73181428 T G snp 1444.77 1/1 99 43 0 43 1.0 intronic rs4903049 DPF3 AU NM_012074 exon5 c.43366+219T>G 0.943091 1 Uncertain 14_73190201_C->G 14 73190201 73190201 C G snp 188.77 0/1 99 12 6 6 0.5 intronic rs10151620 DPF3 AU NM_012074 exon6 c.52497-139C>G 0.69349 0.7758 Uncertain 14_73198506_T->C 14 73198506 73198506 T C snp 3293.77 1/1 99 128 0 128 1.0 intronic rs6574094 DPF3 AU NM_012074 exon7 c.60671-8T>C 0.926518 1 0.914323 0.9525 0.9997 Uncertain 14_73220020_A->G 14 73220020 73220020 A G snp 634.77 0/1 99 52 24 28 0.54 exonic rs3742836 DPF3 AU synonymous SNV NM_001280542 exon3 c.T253C p.L85L 0.223243 0.2907 0.225707 0.2531 0.2833 Uncertain 14_73220153_C->T 14 73220153 73220153 C T snp 450.77 0/1 99 53 30 23 0.43 intronic rs3742835 DPF3 AU NM_012074 exon8 c.82236+74C>T 0.790735 0.7421 Uncertain 14_73240486_A->G 14 73240486 73240486 A G snp 43.77 0/1 72 5 3 2 0.4 intronic rs8015749 DPF3 AU NM_012074 exon9 c.100758+1885A>G 0.498602 0.5764 0.5355 0.5682 Uncertain 14_73358764_A->C 14 73358764 73358764 A C snp 390.77 1/1 30 11 0 11 1.0 intronic rs8006178 DPF3 AU NM_001280544 exon10 c.221011-90A>C 0.432907 0.5506 Uncertain 14_73358945_A->C 14 73358945 73358945 A C snp 3822.77 1/1 99 147 0 147 1.0 exonic rs11158986 DPF3 AU nonsynonymous SNV NM_001280544 exon1 c.T107G p.F36C 0.942692 0.999 0.9554 1 Pathogenic 14_73360819_-->TGTC 14 73360819 73360819 - TGTC indel 15149.7 1/1 99 238 0 238 1.0 UTR5 rs3061027 DPF3 AU 0.993411 0.999 0.986311 0.9870 1 Uncertain 14_73360949_A->G 14 73360949 73360949 A G snp 917.77 1/1 69 25 0 25 1.0 upstream rs2215901 DPF3 AU 0.942492 0.999 Uncertain 14_73404438_G->A 14 73404438 73404438 G A snp 50.74 1/1 6 2 0 2 1.0 intronic rs4903078 DCAF4 AU 0.238618 0.4226 Uncertain 14_73404680_A->C 14 73404680 73404680 A C snp 3002.77 1/1 99 116 0 116 1.0 UTR5 rs3815500 DCAF4 AU 0.238019 0.4226 0.156005 0.2519 0.4446 Uncertain 14_73404825_G->C 14 73404825 73404825 G C snp 863.77 1/1 63 30 0 30 1.0 intronic rs2302586 DCAF4 AU NM_001163509 exon2 c.58+47G>C 0.238219 0.4226 0.156159 0.2468 0.4438 Uncertain 14_73406668_C->T 14 73406668 73406668 C T snp 1686.77 1/1 99 48 0 48 1.0 intronic rs887936 DCAF4 AU NM_001163509 exon3 c.1890+58C>T 0.23722 0.4226 Uncertain 14_73409683_C->G 14 73409683 73409683 C G snp 7021.77 1/1 99 250 1 249 1.0 intronic rs2240980 DCAF4 AU NM_181340 exon5 c.2667-18C>G 0.336062 0.6111 0.251192 0.3414 0.6377 Uncertain 14_73412464_A->C 14 73412464 73412464 A C snp 294.78 1/1 24 8 0 8 1.0 intronic rs2247080 DCAF4 AU NM_181340 exon6 c.5557-127A>C 0.250399 0.4236 Uncertain 14_73418733_T->- 14 73418733 73418733 T - indel 164.8 1/1 18 8 0 8 1.0 intronic rs3214336 DCAF4 AU NM_181340 exon8 c.11551+148delT 0.748003 0.8423 Uncertain 14_73421263_CTC->- 14 73421263 73421265 CTC - indel 6559.73 1/1 99 132 0 132 1.0 intronic rs56832550 DCAF4 AU NM_181340 exon10 c.14157+72_14157+74delCTC 0.255591 0.4236 Uncertain 14_73421284_A->C 14 73421284 73421284 A C snp 2737.77 1/1 99 95 0 95 1.0 intronic rs57911111 DCAF4 AU NM_181340 exon10 c.14157+93A>C 0.288538 0.4752 Uncertain 14_73425315_C->T 14 73425315 73425315 C T snp 3264.77 1/1 99 122 0 122 1.0 splicing rs7144193 DCAF4 AU NM_181340 exon13 c.18285-4C>T 0.28754 0.4752 0.185914 0.2663 0.4932 Pathogenic 14_73460113_A->G 14 73460113 73460113 A G snp 493.89 1/1 2 22 3 19 0.86 intronic rs11159002 ZFYVE1 AU NM_021260 exon9 c.22476+48A>G 0.214058 0.3591 0.148923 0.2283 0.3834 Uncertain 14_73563904_C->T 14 73563904 73563904 C T snp 229.84 1/1 18 8 0 8 1.0 intronic rs67768323 RBM25 AU NM_021239 exon7 c.25459+96C>T Uncertain 14_73563907_-->TC 14 73563907 73563907 - TC indel 121.77 1/1 20 8 0 8 1.0 intronic RBM25 AU NM_021239 exon7 c.25459+99insTC Uncertain 14_73664853_G->T 14 73664853 73664853 G T snp 1785.77 1/1 99 68 0 68 1.0 intronic rs165932 PSEN1 AD,AO NM_007318 exon8 c.50110+16G>T 0.671526 0.624 0.619330 0.6280 0.6518 Uncertain 14_73711394_A->G 14 73711394 73711394 A G snp 2766.77 1/1 99 94 0 94 1.0 exonic rs2280792 PAPLN AU nonsynonymous SNV NM_173462 exon3 c.A97G p.S33G 0.238019 0.4236 0.146514 0.2728 0.5146 0.81 T 0.020 P -0.951 T 0.0 T 0.0 T Pathogenic 14_73711513_G->A 14 73711513 73711513 G A snp 2511.77 1/1 99 91 0 91 1.0 intronic rs2280793 PAPLN AU NM_173462 exon3 c.4981+46G>A 0.206669 0.4236 0.100254 0.1599 0.4356 Uncertain 14_73712303_T->G 14 73712303 73712303 T G snp 4794.77 1/1 99 179 0 179 1.0 intronic rs2242609 PAPLN AU NM_173462 exon4 c.5857-40T>G 0.20647 0.4226 0.103251 0.1714 0.4652 Uncertain 14_73712662_G->A 14 73712662 73712662 G A snp 40.77 0/1 69 5 3 2 0.4 intronic rs145060858 PAPLN AU NM_173462 exon5 c.6294-118G>A 0.00539137 0.0268 Uncertain 14_73716633_T->C 14 73716633 73716633 T C snp 1868.77 1/1 99 66 1 65 0.98 intronic rs2293793 PAPLN AU NM_173462 exon6 c.10205-58T>C 0.442692 0.5665 Uncertain 14_73718879_A->G 14 73718879 73718879 A G snp 1619.77 1/1 99 46 0 46 1.0 intronic rs2242610 PAPLN AU NM_173462 exon9 c.12363+30A>G 0.522364 0.7192 0.396359 0.4764 0.7471 Uncertain 14_73718926_G->A 14 73718926 73718926 G A snp 436.77 1/1 33 11 0 11 1.0 intronic rs1005014 PAPLN AU NM_173462 exon9 c.12363+77G>A 0.223642 0.4544 Uncertain 14_73719984_C->T 14 73719984 73719984 C T snp 2387.77 1/1 99 77 0 77 1.0 intronic rs2242613 PAPLN AU NM_173462 exon11 c.13975-477C>T 0.241014 0.4554 0.2373 0.4694 Uncertain 14_73720686_G->A 14 73720686 73720686 G A snp 783.77 1/1 57 27 0 27 1.0 intronic rs2293795 PAPLN AU NM_173462 exon11 c.14183+17G>A 0.169928 0.4266 0.065545 0.1519 0.4746 Uncertain 14_73727509_T->G 14 73727509 73727509 T G snp 2032.77 1/1 99 78 2 76 0.97 exonic rs177389 PAPLN AU nonsynonymous SNV NM_173462 exon16 c.T1997G p.M666R 0.65615 0.7103 0.618945 0.5768 0.7252 0.59 T 0.0 P -0.975 T 0.0 T 0.0 T Pathogenic 14_73727926_G->C 14 73727926 73727926 G C snp 1738.77 0/1 99 153 82 71 0.46 exonic rs2242616 PAPLN AU nonsynonymous SNV NM_173462 exon17 c.G2088C p.Q696H 0.0123802 0.0407 0.003076 0.0097 0.0462 0.13 T 0.988 N -0.983 T 0.985 D 0.849 D Pathogenic 14_73728957_G->A 14 73728957 73728957 G A snp 659.77 0/1 99 52 24 28 0.54 intronic rs177387 PAPLN AU NM_173462 exon18 c.22571-100G>A 0.504992 0.2282 Uncertain 14_73730290_C->A 14 73730290 73730290 C A snp 2619.77 0/1 99 206 88 118 0.57 intronic rs177385 PAPLN AU NM_173462 exon19 c.23866-62C>A 0.665335 0.376 0.7553 0.3430 Uncertain 14_73730635_T->G 14 73730635 73730635 T G snp 198.77 0/1 99 62 42 20 0.32 intronic rs371879790 PAPLN AU NM_173462 exon19 c.24004+145T>G 0.0225639 0.0645 0.0009 0.0256 Uncertain 14_73730639_C->T 14 73730639 73730639 C T snp 480.77 0/1 99 74 49 25 0.34 intronic rs201194571 PAPLN AU NM_173462 exon19 c.24004+149C>T 0.0008 0.0244 Uncertain 14_73732302_C->G 14 73732302 73732302 C G snp 1236.77 1/1 52 48 2 46 0.96 intronic rs177383 PAPLN AU NM_173462 exon22 c.25729+87C>G 0.841853 0.8452 Uncertain 14_73733410_A->G 14 73733410 73733410 A G snp 3291.77 0/1 99 249 114 135 0.54 intronic rs909216 PAPLN AU NM_173462 exon24 c.26944-20A>G 0.338259 0.6885 0.191296 0.2534 0.7073 Uncertain 14_73735366_C->T 14 73735366 73735366 C T snp 1972.77 0/1 99 156 77 79 0.51 exonic rs4903104 PAPLN AU nonsynonymous SNV NM_173462 exon25 c.C3521T p.T1174M 0.115016 0.1121 0.140474 0.1618 0.1290 0 D 1.0 P -1.178 T 1.0 D 1.0 D Pathogenic 14_73743205_G->C 14 73743205 73743205 G C snp 103.77 0/1 99 12 7 5 0.42 UTR3 rs11625196 NUMB AU 0.33766 0.6806 Uncertain 14_73782954_C->T 14 73782954 73782954 C T snp 182.77 0/1 99 14 7 7 0.5 intronic rs10137332 NUMB AU NM_001005744 exon7 c.39812-143C>T 0.33147 0.6776 Uncertain 14_73957682_C->G 14 73957682 73957682 C G snp 496.77 1/1 39 14 0 14 1.0 UTR5 rs10144461 C14orf169 AU 0.804113 0.8363 0.7635 0.8596 Uncertain 14_73957772_A->G 14 73957772 73957772 A G snp 3705.77 1/1 99 131 0 131 1.0 exonic rs10144469 C14orf169 AU unknown 0.758963 0.7595 0.8637 Uncertain 14_73957981_-->C 14 73957981 73957981 - C indel 6761.73 1/1 99 164 0 164 1.0 exonic rs150704374 C14orf169 AU unknown 1 1 0.999357 1.0000 1 Uncertain 14_73958375_T->C 14 73958375 73958375 T C snp 4705.77 1/1 99 166 1 165 0.99 exonic rs758109 C14orf169 AU unknown 0.804113 0.8363 0.790482 0.7637 0.8484 Uncertain 14_73958812_T->C 14 73958812 73958812 T C snp 3156.77 0/1 99 250 130 120 0.48 exonic rs3813563 C14orf169 AU unknown 0.59345 0.5228 0.507632 0.5159 0.5341 Uncertain 14_73961821_T->C 14 73961821 73961821 T C snp 544.77 0/1 99 37 16 21 0.57 intronic rs4519287 HEATR4 AU NM_001220484 exon3 c.16621-110T>C 0.290535 0.1171 Uncertain 14_73961841_T->C 14 73961841 73961841 T C snp 1631.77 1/1 99 57 0 57 1.0 intronic rs1019056 HEATR4 AU NM_001220484 exon3 c.16621-90T>C 0.816094 0.8353 Uncertain 14_73963383_T->C 14 73963383 73963383 T C snp 1341.77 1/1 96 46 0 46 1.0 exonic rs8014577 HEATR4 AU synonymous SNV NM_203309 exon14 c.A2547G p.K849K 0.809704 0.8353 0.762498 0.7444 0.8569 Uncertain 14_73969610_G->A 14 73969610 73969610 G A snp 1264.77 0/1 99 104 53 51 0.49 exonic rs11626122 HEATR4 AU synonymous SNV NM_203309 exon10 c.C2094T p.H698H 0.184904 0.2867 0.123097 0.1743 0.2944 Uncertain 14_73989859_C->T 14 73989859 73989859 C T snp 1838.77 1/1 99 60 0 60 1.0 UTR5 rs1074501 HEATR4 AU 0.680112 0.877 0.7415 0.8987 Uncertain 14_74004595_C->T 14 74004595 74004595 C T snp 2408.77 1/1 99 100 0 100 1.0 intronic rs72738342 ACOT1 AU NM_001037161 exon1 c.457+13C>T 0.365815 0.1964 0.375029 0.5376 0.7126 Uncertain 14_74008071_G->A 14 74008071 74008071 G A snp 307.78 1/1 24 8 0 8 1.0 intronic rs66713913 ACOT1 AU NM_001037161 exon2 c.4071-125G>A 0.332468 0.5575 Uncertain 14_74041748_A->G 14 74041748 74041748 A G snp 426.77 1/1 36 13 0 13 1.0 exonic rs149033118 ACOT2 AU nonsynonymous SNV NM_006821 exon3 c.A983G p.H328R 0.6950 0.9324 0.74 T 0.0 P -0.945 T 0.001 T 0.008 T Pathogenic 14_74042189_A->G 14 74042189 74042189 A G snp 204.78 0/1 24 64 28 36 0.56 exonic rs7494 ACOT2 AU nonsynonymous SNV NM_006821 exon3 c.A1424G p.H475R 0.3798 0.8034 0.49 T 0.0 P -0.972 T 0.001 T 0.001 T Pathogenic 14_74061968_T->C 14 74061968 74061968 T C snp 5205.77 1/1 99 192 1 191 0.99 exonic rs2010070 ACOT4 AU synonymous SNV NM_152331 exon3 c.T876C p.I292I 0.861821 0.9296 0.799400 0.7736 0.9475 Uncertain 14_74083901_G->A 14 74083901 74083901 G A snp 2700.77 1/1 99 102 0 102 1.0 splicing rs17128948 ACOT6 AU NM_001037162 exon1 c.18+5G>A 0.158347 0.1845 0.131247 0.0881 0.1934 Pathogenic 14_74121761_T->G 14 74121761 74121761 T G snp 220.84 1/1 18 7 0 7 1.0 intronic rs11622678 DNAL1 AR NM_031427 exon2 c.9846+173T>G 0.247204 0.619 Uncertain 14_74192165_T->C 14 74192165 74192165 T C snp 309.78 1/1 24 8 0 8 1.0 intronic rs10136165 ELMSAN1 AU NM_194278 exon4 c.6060+102T>C 0.855831 0.9157 Uncertain 14_74192994_A->G 14 74192994 74192994 A G snp 324.78 1/1 27 9 0 9 1.0 intronic rs2336074 ELMSAN1 AU NM_194278 exon5 c.6808+183A>G 0.85603 0.9147 Uncertain 14_74193427_A->G 14 74193427 74193427 A G snp 3204.83 1/1 99 115 0 115 1.0 intronic rs887508 ELMSAN1 AU NM_194278 exon6 c.7407+17A>G 0.860024 0.9187 0.823851 0.7915 0.9307 Uncertain 14_74196686_T->C 14 74196686 74196686 T C snp 3764.77 1/1 99 136 0 136 1.0 exonic rs2075025 ELMSAN1 AU synonymous SNV NM_001043318 exon4 c.A1752G p.A584A 0.604034 0.8323 0.445854 0.4627 0.8658 Uncertain 14_74196792_T->C 14 74196792 74196792 T C snp 2311.77 1/1 99 86 0 86 1.0 intronic rs8019058 ELMSAN1 AU NM_194278 exon9 c.10685+104T>C 0.605032 0.8313 0.5292 0.8274 Uncertain 14_74196844_T->C 14 74196844 74196844 T C snp 1242.77 1/1 90 43 0 43 1.0 intronic rs6574140 ELMSAN1 AU NM_194278 exon9 c.10685+156T>C 0.858027 0.9286 0.7919 0.9120 Uncertain 14_74204053_G->A 14 74204053 74204053 G A snp 2967.77 1/1 99 91 0 91 1.0 intronic rs62006078 ELMSAN1 AU NM_194278 exon10 c.17997+53G>A 0.226038 0.6121 Uncertain 14_74206481_T->C 14 74206481 74206481 T C snp 5503.77 1/1 99 198 0 198 1.0 exonic rs758774 ELMSAN1 AU synonymous SNV NM_001043318 exon2 c.A231G p.V77V 0.86242 0.9325 0.824227 0.7980 0.9467 Uncertain 14_74340797_A->T 14 74340797 74340797 A T snp 2352.77 0/1 99 199 84 115 0.58 exonic rs11159042 PTGR2 AU synonymous SNV NM_001146154 exon4 c.A228T p.G76G 0.504992 0.5079 0.472320 0.5173 0.5370 Uncertain 14_74343981_T->A 14 74343981 74343981 T A snp 119.77 0/1 95 8 3 5 0.63 intronic rs45542836 PTGR2 AU NM_001146155 exon5 c.18306+110T>A 0.192692 0.0486 Uncertain 14_74349227_G->A 14 74349227 74349227 G A snp 105.77 0/1 99 16 11 5 0.31 intronic rs8005140 PTGR2 AU NM_001146155 exon9 c.23576+86G>A 0.32508 0.1022 Uncertain 14_74358598_A->G 14 74358598 74358598 A G snp 50.74 1/1 6 2 0 2 1.0 intronic rs62003711 ZNF410 AU 0.220647 0.0486 Uncertain 14_74358704_CT->- 14 74358704 74358705 CT - indel 1475.73 0/1 99 89 50 39 0.44 intronic rs140665239 ZNF410 AU 0.192891 0.0486 0.3796 0.0760 Uncertain 14_74375956_A->C 14 74375956 74375956 A C snp 1014.77 0/1 99 75 39 36 0.48 intronic rs2302136 ZNF410 AU NM_001242928 exon8 c.11099-87A>C 0.517772 0.5079 Uncertain 14_74387450_A->T 14 74387450 74387450 A T snp 93.28 1/1 9 3 0 3 1.0 intronic rs2302120 ZNF410 AU NM_001242928 exon9 c.22738-232A>T 0.834864 0.9236 Uncertain 14_74388908_T->C 14 74388908 74388908 T C snp 569.77 0/1 99 49 25 24 0.49 exonic rs1127392 ZNF410 AU synonymous SNV NM_001242927 exon9 c.T1050C p.D350D 0.228035 0.0476 0.340151 0.3529 0.0361 1.000 P Uncertain 14_74399212_C->T 14 74399212 74399212 C T snp 1169.77 0/1 99 96 48 48 0.5 downstream rs6574155 FAM161B AU 0.645168 0.5813 0.7047 0.5985 Uncertain 14_74399291_G->A 14 74399291 74399291 G A snp 1597.77 1/1 99 56 0 56 1.0 downstream rs2336547 FAM161B AU 0.803914 0.9226 Uncertain 14_74401038_A->G 14 74401038 74401038 A G snp 852.77 0/1 99 115 70 45 0.39 exonic rs17094077 FAM161B AU nonsynonymous SNV NM_152445 exon9 c.T2054C p.L685P 0.0115815 0.0248 0.000231 0.0073 0.0161 0.22 T 1.000 N -1.020 T 0.009 T 0.007 T Pathogenic 14_74402477_T->C 14 74402477 74402477 T C snp 56.74 1/1 6 2 0 2 1.0 intronic rs4903157 FAM161B AU NM_152445 exon2 c.1693-174T>C 0.992412 1 Uncertain 14_74404756_T->C 14 74404756 74404756 T C snp 2188.77 0/1 99 211 116 95 0.45 exonic rs28927675 FAM161B AU nonsynonymous SNV NM_152445 exon6 c.A1649G p.K550R 0.407348 0.4583 0.389743 0.4567 0.4848 0.4 T 0.856 P -0.906 T 0.767 T 0.279 P Pathogenic 14_74409032_G->A 14 74409032 74409032 G A snp 581.77 0/1 99 44 23 21 0.48 intronic rs740506 FAM161B AU NM_152445 exon6 c.8113-39G>A 0.407348 0.4573 0.389205 0.4569 0.4795 Uncertain 14_74413129_C->G 14 74413129 74413129 C G snp 1835.77 0/1 99 137 66 71 0.52 exonic rs7146634 FAM161B AU synonymous SNV NM_152445 exon2 c.G423C p.G141G 0.259784 0.0506 0.377211 0.3476 0.0343 Uncertain 14_74413420_T->C 14 74413420 74413420 T C snp 56.74 1/1 6 2 0 2 1.0 intronic rs7148485 FAM161B AU NM_152445 exon8 c.12350+112T>C 0.369808 0.2093 Uncertain 14_74416600_T->C 14 74416600 74416600 T C snp 290.77 0/1 99 42 28 14 0.33 intronic rs11621743 FAM161B AU NM_152445 exon9 c.15717-75T>C 0.186701 0.0496 Uncertain 14_74422329_G->C 14 74422329 74422329 G C snp 993.77 0/1 99 78 40 38 0.49 intronic rs2302118 COQ6 AR NM_182480 exon3 c.5417+117G>C 0.165535 0.3651 0.1878 0.3571 Uncertain 14_74424938_T->C 14 74424938 74424938 T C snp 1613.77 0/1 99 126 53 73 0.58 exonic rs3180946 COQ6 AR synonymous SNV NM_182476 exon5 c.T570C p.H190H 0.184904 0.0496 0.303014 0.3281 0.0341 CLINSIG=probable-non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=no_assertion_criteria_provided|criteria_provided\x2c_single_submitter;CLNACC=RCV000116813.2|RCV000124552.1;CLNDSDB=MedGen|MedGen;CLNDSDBID=CN169374|CN221809 Uncertain 14_74425056_C->A 14 74425056 74425056 C A snp 584.77 0/1 99 45 22 23 0.51 intronic rs3764859 COQ6 AR NM_182480 exon5 c.8185+76C>A 0.348043 0.1984 0.4691 0.2149 Uncertain 14_74428286_A->G 14 74428286 74428286 A G snp 2238.77 1/1 99 73 0 73 1.0 intronic rs7141392 COQ6 AR NM_182480 exon10 c.11478+13A>G 0.834153 0.8792 0.9398 CLINSIG=non-pathogenic;CLNDBN=not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000124545.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Uncertain 14_74428445_G->A 14 74428445 74428445 G A snp 1757.77 0/1 99 159 83 76 0.48 exonic rs8500 COQ6 AR nonsynonymous SNV NM_182476 exon11 c.G1216A p.V406M 0.345447 0.1984 0.384515 0.4346 0.1883 0.26 T 1.000 P -0.921 T 0.014 T 0.028 T CLINSIG=probable-non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=no_assertion_criteria_provided|criteria_provided\x2c_single_submitter;CLNACC=RCV000116812.2|RCV000124546.1;CLNDSDB=MedGen|MedGen;CLNDSDBID=CN169374|CN221809 Pathogenic 14_74433552_A->T 14 74433552 74433552 A T snp 68.77 0/1 97 9 6 3 0.33 UTR3 rs13743 ENTPD5 AU 0.348442 0.1984 Uncertain 14_74433859_T->C 14 74433859 74433859 T C snp 1684.77 0/1 99 137 66 71 0.52 intronic rs3742813 ENTPD5 AU NM_001249 exon1 c.87+142T>C 0.348442 0.1984 Uncertain 14_74439495_G->A 14 74439495 74439495 G A snp 373.77 0/1 99 26 11 15 0.58 intronic rs11623794 ENTPD5 AU NM_001249 exon4 c.5956-91G>A 0.497005 0.5089 Uncertain 14_74441537_T->C 14 74441537 74441537 T C snp 1011.77 0/1 99 88 43 45 0.51 intronic rs2074933 ENTPD5 AU NM_001249 exon6 c.7996-89T>C 0.675919 0.5764 Uncertain 14_74441684_G->A 14 74441684 74441684 G A snp 735.77 0/1 99 70 34 36 0.51 exonic rs2074932 ENTPD5 AU synonymous SNV NM_001249 exon11 c.C727T p.L243L 0.48762 0.2649 0.545671 0.5902 0.2466 Uncertain 14_74449664_A->G 14 74449664 74449664 A G snp 869.77 0/1 99 77 38 39 0.51 intronic rs12431489 ENTPD5 AU NM_001249 exon11 c.16090-56A>G 0.196486 0.0496 Uncertain 14_74453707_T->- 14 74453707 74453707 T - indel 2024.73 0/1 99 143 74 69 0.48 intronic rs199818408 ENTPD5 AU NM_001249 exon12 c.19966+111delT 0.170527 0.3671 Uncertain 14_74453711_A->C 14 74453711 74453711 A C snp 1587.77 0/1 99 137 74 63 0.46 intronic rs111623005 ENTPD5 AU NM_001249 exon12 c.19966+115A>C 0.170527 0.3671 Uncertain 14_74454813_C->A 14 74454813 74454813 C A snp 188.77 0/1 99 12 5 7 0.58 UTR5 rs2302117 ENTPD5 AU 0.170527 0.3671 0.151622 0.1958 0.3815 Uncertain 14_74454819_T->A 14 74454819 74454819 T A snp 76.77 0/1 99 10 6 4 0.4 UTR5 rs12434581 ENTPD5 AU 0.196885 0.0496 0.316210 0.3864 0.0485 Uncertain 14_74489735_G->A 14 74489735 74489735 G A snp 868.77 0/1 99 65 30 35 0.54 exonic rs3784039 CCDC176 AU nonsynonymous SNV NM_025057 exon2 c.G173A p.R58Q 0.202276 0.5585 0.122039 0.1980 0.6034 0.3 T 1.000 P -0.953 T 0.105 T 0.009 T Pathogenic 14_74512698_T->C 14 74512698 74512698 T C snp 431.77 0/1 99 25 10 15 0.6 intronic rs6574158 CCDC176 AU NM_025057 exon6 c.26581-64T>C 0.654153 0.8829 0.522996 Uncertain 14_74514674_A->T 14 74514674 74514674 A T snp 1577.77 0/1 99 111 48 63 0.57 exonic rs3784038 CCDC176 AU nonsynonymous SNV NM_025057 exon7 c.A689T p.D230V 0.631789 0.8829 0.503107 0.5655 0.9008 0.33 T 1.000 P -0.977 T 0.0 T 0.0 T Pathogenic 14_74527203_G->A 14 74527203 74527203 G A snp 1139.77 1/1 87 34 0 34 1.0 UTR3 rs8017248 ALDH6A1 AR 0.993011 1 Uncertain 14_74537885_T->G 14 74537885 74537885 T G snp 2131.77 0/1 99 143 57 86 0.6 intronic rs2072293 ALDH6A1 AR NM_001278594 exon7 c.10553-12T>G 0.536741 0.7956 0.393203 0.4111 0.8295 Uncertain 14_74538706_A->G 14 74538706 74538706 A G snp 1360.77 0/1 99 116 61 55 0.47 intronic rs4646861 ALDH6A1 AR NM_001278594 exon8 c.11333+29A>G 0.188698 0.5575 0.105874 0.1625 0.5868 Uncertain 14_74539325_C->A 14 74539325 74539325 C A snp 413.77 0/1 99 58 40 18 0.31 intronic rs2302126 ALDH6A1 AR NM_001278594 exon10 c.11970+11C>A 0.21865 0.5298 0.120022 0.1537 0.4556 Uncertain 14_74550908_A->T 14 74550908 74550908 A T snp 208.77 0/1 99 42 32 10 0.24 intronic rs2074939 ALDH6A1 AR NM_001278594 exon12 c.23705-141A>T 0.236022 0.5585 Uncertain 14_74665543_G->A 14 74665543 74665543 G A snp 353.77 0/1 99 38 23 15 0.39 intronic rs10145171 LIN52 AU NM_001024674 exon6 c.113959-81G>A 0.437899 0.1607 Uncertain 14_74711705_G->C 14 74711705 74711705 G C snp 119.77 0/1 99 7 3 4 0.57 intronic VSX2 AU NM_182894 exon3 c.5603-162G>C Uncertain 14_74711711_C->G 14 74711711 74711711 C G snp 159.77 0/1 63 7 2 5 0.71 intronic rs80101978 VSX2 AU NM_182894 exon3 c.5603-156C>G 0.464457 0.3929 Uncertain 14_74711883_C->T 14 74711883 74711883 C T snp 1439.77 0/1 99 119 59 60 0.5 exonic rs35435463 VSX2 AU synonymous SNV NM_182894 exon3 c.C471T p.S157S 0.259984 0.0754 0.388359 0.4217 0.0555 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000154137.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 14_74726515_-->C 14 74726515 74726515 - C indel 1416.73 1/1 99 41 0 41 1.0 intronic rs11383441 VSX2 AU NM_182894 exon4 c.20221+30insC 1 1 1.0000 0.9999 Uncertain 14_74727661_C->T 14 74727661 74727661 C T snp 225.77 0/1 99 13 6 7 0.54 UTR3 rs117813701 VSX2 AU 0.0626997 0.121 0.017667 0.0750 0.1184 Uncertain 14_74753278_T->C 14 74753278 74753278 T C snp 8068.77 1/1 99 250 0 250 1.0 intronic rs929449 ABCD4 AR NM_005050 exon1 c.69+46T>C 1 1 1.0000 1 Uncertain 14_74763371_T->C 14 74763371 74763371 T C snp 180.9 1/1 15 5 0 5 1.0 intronic rs7156792 ABCD4 AR NM_005050 exon15 c.9989+219T>C 0.994609 1 Uncertain 14_74874540_A->G 14 74874540 74874540 A G snp 817.77 0/1 99 81 48 33 0.41 intronic rs11621669 SYNDIG1L AU NM_001105579 exon2 c.314-11A>G 0.378994 0.3889 0.412692 0.4332 0.4416 Uncertain 14_74874707_A->G 14 74874707 74874707 A G snp 1881.77 0/1 99 173 87 86 0.5 intronic rs2884545 SYNDIG1L AU NM_001105579 exon2 c.455+15A>G 0.450879 0.4097 0.487540 0.4781 0.4616 Uncertain 14_74876181_T->G 14 74876181 74876181 T G snp 1674.77 0/1 99 134 62 72 0.54 exonic rs12590672 SYNDIG1L AU synonymous SNV NM_001105579 exon2 c.A267C p.T89T 0.460663 0.4454 0.486688 0.4777 0.4797 Uncertain 14_74943295_T->C 14 74943295 74943295 T C snp 1422.77 0/1 99 107 54 53 0.5 intergenic rs8021664 SYNDIG1L AU 0.269768 0.1806 0.2282 0.1970 1 T 0.0 P -1.057 T Uncertain 14_74943426_C->A 14 74943426 74943426 C A snp 40.77 0/1 69 7 4 3 0.43 intergenic rs10150696 SYNDIG1L AU 0.265575 0.1806 Uncertain 14_74951000_T->G 14 74951000 74951000 T G snp 40.77 0/1 33 3 1 2 0.67 intronic NPC2 AR NM_006432 exon3 c.4141-117T>G Uncertain 14_74970448_-->C 14 74970448 74970448 - C indel 317.74 1/1 27 10 0 10 1.0 intronic rs397793062 LTBP2 AU,AR NM_000428 exon5 c.2723+139insC 1 1 Uncertain 14_74970907_C->T 14 74970907 74970907 C T snp 175.77 0/1 99 13 6 7 0.54 intronic rs74443692 LTBP2 AU,AR NM_000428 exon6 c.3171+150C>T 0.0197684 0.0575 Uncertain 14_74971769_C->T 14 74971769 74971769 C T snp 1931.77 0/1 99 161 84 77 0.48 exonic rs116914994 LTBP2 AU,AR nonsynonymous SNV NM_000428 exon29 c.G4286A p.R1429Q 0.00738818 0.0347 0.0040 0.0532 0.61 T 1.000 N -0.758 T 0.001 T 0.003 T Pathogenic 14_74972008_A->T 14 74972008 74972008 A T snp 309.78 1/1 24 9 0 9 1.0 intronic rs10146812 LTBP2 AU,AR NM_000428 exon8 c.4291+131A>T 0.314097 0.5605 Uncertain 14_74972942_G->A 14 74972942 74972942 G A snp 403.77 0/1 99 33 17 16 0.48 intronic rs2286411 LTBP2 AU,AR NM_000428 exon9 c.5308+48G>A 0.169728 0.1528 0.135595 0.1673 0.1490 Uncertain 14_74973579_T->C 14 74973579 74973579 T C snp 501.77 0/1 99 40 21 19 0.47 intronic rs45537036 LTBP2 AU,AR NM_000428 exon10 c.5940+53T>C 0.375998 0.4067 Uncertain 14_74973581_T->C 14 74973581 74973581 T C snp 439.77 0/1 99 38 21 17 0.45 intronic rs60130392 LTBP2 AU,AR NM_000428 exon10 c.5940+55T>C 0.430911 0.4395 Uncertain 14_74973581_-->GTGCGCGCGC 14 74973581 74973581 - GTGCGCGCGC indel 1097.73 0/1 99 38 20 18 0.47 intronic LTBP2 AU,AR NM_000428 exon10 c.5940+55insGTGCGCGCGC Uncertain 14_74973583_C->T 14 74973583 74973583 C T snp 283.77 0/1 99 35 20 15 0.43 intronic rs8020768 LTBP2 AU,AR NM_000428 exon10 c.5940+57C>T Uncertain 14_74973583_-->GT 14 74973583 74973583 - GT indel 971.73 0/1 37 35 8 27 0.77 intronic rs111988741 LTBP2 AU,AR NM_000428 exon10 c.5940+57insGT Uncertain 14_74973740_A->G 14 74973740 74973740 A G snp 1390.77 1/1 99 42 0 42 1.0 intronic rs3815329 LTBP2 AU,AR NM_000428 exon11 c.6295-141A>G 0.238818 0.2133 Uncertain 14_74976452_C->T 14 74976452 74976452 C T snp 1903.77 0/1 99 161 78 83 0.52 exonic rs61505039 LTBP2 AU,AR nonsynonymous SNV NM_000428 exon21 c.G3262A p.G1088S 0.0603035 0.1518 0.003229 0.0335 0.1907 0.02 T 0.659 P -1.081 T 0.643 T 0.342 P Pathogenic 14_74976986_A->G 14 74976986 74976986 A G snp 1615.77 1/1 99 50 0 50 1.0 intronic rs7160756 LTBP2 AU,AR NM_000428 exon17 c.9330+70A>G 0.627596 0.7619 Uncertain 14_74989433_T->C 14 74989433 74989433 T C snp 1966.77 1/1 99 60 0 60 1.0 intronic rs699371 LTBP2 AU,AR NM_000428 exon21 c.21906-59T>C 0.736422 0.7827 Uncertain 14_74991741_T->A 14 74991741 74991741 T A snp 609.77 0/1 99 36 15 21 0.58 intronic rs862032 LTBP2 AU,AR NM_000428 exon22 c.24240-85T>A 0.128594 0.1508 Uncertain 14_74991855_A->G 14 74991855 74991855 A G snp 4752.77 1/1 99 172 0 172 1.0 exonic rs862031 LTBP2 AU,AR synonymous SNV NM_000428 exon15 c.T2502C p.T834T 0.728235 0.7361 0.713824 0.6737 0.7364 Uncertain 14_74991959_T->C 14 74991959 74991959 T C snp 3392.77 1/1 99 123 0 123 1.0 intronic rs862030 LTBP2 AU,AR NM_000428 exon22 c.24342+31T>C 0.43151 0.3373 0.398816 0.3433 0.3585 Uncertain 14_74992800_A->G 14 74992800 74992800 A G snp 2013.77 1/1 99 70 0 70 1.0 exonic rs699374 LTBP2 AU,AR synonymous SNV NM_000428 exon14 c.T2406C p.T802T 0.378794 0.3294 0.353353 0.3545 0.3871 Uncertain 14_74992861_A->C 14 74992861 74992861 A C snp 944.77 1/1 69 31 0 31 1.0 intronic rs699375 LTBP2 AU,AR NM_000428 exon23 c.25231+44A>C 0.378395 0.3294 0.348946 0.2949 0.3046 Uncertain 14_74994201_G->A 14 74994201 74994201 G A snp 363.77 0/1 99 21 9 12 0.57 intronic rs862029 LTBP2 AU,AR NM_000428 exon24 c.26483+132G>A 0.0910543 0.1478 Uncertain 14_74999108_C->T 14 74999108 74999108 C T snp 1990.77 1/1 99 71 0 71 1.0 intronic rs862025 LTBP2 AU,AR NM_000428 exon27 c.31542-20C>T 0.360024 0.3542 0.308857 0.2717 0.3797 Uncertain 14_75002607_G->T 14 75002607 75002607 G T snp 425.77 0/1 99 63 45 18 0.29 intronic rs3742794 LTBP2 AU,AR NM_000428 exon28 c.35042-21G>T 0.238618 0.1944 0.257958 0.2200 0.1856 Uncertain 14_75016482_T->C 14 75016482 75016482 T C snp 1022.77 0/1 99 77 35 42 0.55 intronic rs2196861 LTBP2 AU,AR NM_000428 exon29 c.48979-83T>C Uncertain 14_75017650_G->C 14 75017650 75017650 G C snp 563.77 0/1 99 56 33 23 0.41 intronic rs934999 LTBP2 AU,AR NM_000428 exon30 c.50180-116G>C 0.88119 0.756 Uncertain 14_75019002_C->T 14 75019002 75019002 C T snp 2653.77 0/1 99 204 95 109 0.53 exonic rs61738025 LTBP2 AU,AR synonymous SNV NM_000428 exon6 c.G1287A p.L429L 0.0704872 0.0952 0.066759 0.0604 0.0905 Uncertain 14_75019157_T->C 14 75019157 75019157 T C snp 2628.77 0/1 99 223 113 110 0.49 intronic rs11622992 LTBP2 AU,AR NM_000428 exon31 c.51510+61T>C 0.499002 0.1518 Uncertain 14_75022271_G->T 14 75022271 75022271 G T snp 891.77 0/1 99 91 48 43 0.47 exonic rs2304707 LTBP2 AU,AR nonsynonymous SNV NM_000428 exon4 c.C956A p.P319Q 0.0876597 0.0952 0.089651 0.0656 0.0937 0.02 T 0.0 P -1.096 T 0.877 T 0.216 P Pathogenic 14_75070493_G->C 14 75070493 75070493 G C snp 1913.77 0/1 99 147 74 73 0.5 intronic rs3742793 LTBP2 AU,AR NM_000428 exon35 c.102822+85G>C 0.371605 0.1548 Uncertain 14_75130944_C->T 14 75130944 75130944 C T snp 139.03 1/1 12 4 0 4 1.0 intronic rs752857 AREL1 AU NM_001039479 exon2 c.355+167C>T 0.325479 0.4583 Uncertain 14_75137664_T->C 14 75137664 75137664 T C snp 1984.77 1/1 99 68 0 68 1.0 intronic rs2302832 AREL1 AU NM_001039479 exon8 c.7152+90T>C 0.342452 0.5397 Uncertain 14_75151047_G->A 14 75151047 75151047 G A snp 374.77 1/1 30 12 0 12 1.0 intronic rs9671386 AREL1 AU NM_001039479 exon17 c.20734-109G>A 0.733227 0.748 Uncertain 14_75182937_G->A 14 75182937 75182937 G A snp 558.77 1/1 42 15 0 15 1.0 intronic rs2287400 FCF1 AU NM_015962 exon4 c.2902+135G>A 0.694688 0.751 Uncertain 14_75200697_G->A 14 75200697 75200697 G A snp 4236.77 1/1 99 163 0 163 1.0 intronic rs3825708 FCF1 AU NM_015962 exon7 c.20878-81G>A 0.710264 0.751 Uncertain 14_75245002_G->A 14 75245002 75245002 G A snp 135.03 1/1 12 4 0 4 1.0 intronic rs2359237 YLPM1 AU NM_019589 exon2 c.14957-147G>A 0.440096 0.5744 Uncertain 14_75276079_C->G 14 75276079 75276079 C G snp 1959.77 1/1 99 74 0 74 1.0 splicing rs957345 YLPM1 AU NM_019589 exon7 c.45890-3C>G 0.439696 0.5744 0.483903 0.5205 0.5490 Pathogenic 14_75278181_A->C 14 75278181 75278181 A C snp 50.74 1/1 6 2 0 2 1.0 intronic rs12896360 YLPM1 AU NM_019589 exon10 c.48130-141A>C 0.636581 0.7401 Uncertain 14_75278211_G->A 14 75278211 75278211 G A snp 639.77 1/1 48 18 0 18 1.0 intronic rs12588415 YLPM1 AU NM_019589 exon10 c.48130-111G>A 0.332468 0.5744 Uncertain 14_75278302_G->A 14 75278302 75278302 G A snp 1527.77 1/1 99 58 0 58 1.0 intronic rs8022046 YLPM1 AU NM_019589 exon10 c.48130-20G>A 0.727636 0.7976 0.694942 0.7084 0.7627 Uncertain 14_75279395_T->A 14 75279395 75279395 T A snp 2177.77 1/1 99 83 0 83 1.0 exonic rs2302834 YLPM1 AU synonymous SNV NM_019589 exon11 c.T5412A p.P1804P 0.728235 0.7986 0.700742 0.7058 0.7604 Uncertain 14_75282874_T->- 14 75282874 75282874 T - indel 554.73 1/1 13 38 5 33 0.87 intronic rs398025715 YLPM1 AU NM_019589 exon12 c.52713-31delT 0.66893 0.7421 0.4928 0.4818 Uncertain 14_75329973_C->T 14 75329973 75329973 C T snp 2351.77 0/1 99 194 94 100 0.52 exonic rs79080832 PROX2 AU nonsynonymous SNV NM_001243007 exon1 c.G565A p.D189N 0.00299521 0.0149 0.0020 0.0268 0.13 T 1 N -1.014 T 0.004 T 0.003 T Pathogenic 14_75355768_A->- 14 75355768 75355768 A - indel 278.73 0/1 99 13 4 9 0.69 intronic rs398077873 DLST AU NM_001244883 exon4 c.7141-29delA 0.666534 0.4216 0.653914 0.5879 0.4720 Uncertain 14_75356799_-->A 14 75356799 75356799 - A indel 78.73 0/1 66 11 3 8 0.73 intronic rs398118380 DLST AU NM_001244883 exon6 c.7999+144insA 0.293331 0.2222 Uncertain 14_75359670_G->A 14 75359670 75359670 G A snp 1421.77 0/1 99 153 79 74 0.48 exonic rs2230237 DLST AU synonymous SNV NM_001933 exon8 c.G576A p.Q192Q 0.665935 0.4196 0.654852 0.5882 0.4727 Uncertain 14_75360906_G->A 14 75360906 75360906 G A snp 83.77 0/1 30 4 1 3 0.75 intronic rs2070598 DLST AU NM_001933 exon10 c.12358-108G>A 0.506789 0.4127 Uncertain 14_75361177_C->G 14 75361177 75361177 C G snp 1624.77 0/1 99 152 77 75 0.49 intronic rs2070599 DLST AU NM_001933 exon10 c.12456+65C>G 0.650759 0.4216 Uncertain 14_75365062_A->G 14 75365062 75365062 A G snp 40.77 0/1 69 5 3 2 0.4 intronic rs2080087 DLST AU NM_001933 exon11 c.16415-9A>G 0.666534 0.4216 0.655159 0.5886 0.4726 Uncertain 14_75366447_C->T 14 75366447 75366447 C T snp 236.77 0/1 99 13 5 8 0.62 intronic rs731952 DLST AU NM_001933 exon12 c.17969-178C>T 0.285144 0.2212 Uncertain 14_75367740_G->A 14 75367740 75367740 G A snp 636.77 0/1 99 46 23 23 0.5 intronic rs1799900 DLST AU NM_001933 exon14 c.19112-28G>A 0.666334 0.4206 0.655082 0.5894 0.4716 Uncertain 14_75367807_C->T 14 75367807 75367807 C T snp 1759.77 0/1 99 142 68 74 0.52 exonic rs20578 DLST AU synonymous SNV NM_001933 exon14 c.C1098T p.G366G 0.284145 0.2202 0.319314 0.3036 0.2526 Uncertain 14_75373626_-->TGAT 14 75373626 75373626 - TGAT indel 3398.73 0/1 99 109 54 55 0.5 UTR3 rs398070543 RPS6KL1 AU 0.303115 0.2222 Uncertain 14_75378185_G->A 14 75378185 75378185 G A snp 111.77 0/1 99 7 3 4 0.57 intronic rs3213716 RPS6KL1 AU NM_031464 exon6 c.4367+102G>A 0.311502 0.5794 Uncertain 14_75378297_TGTGTA->- 14 75378297 75378302 TGTGTA - indel 3090.73 1/1 99 39 0 39 1.0 intronic rs3081755 RPS6KL1 AU NM_031464 exon7 c.4780-199_4780-194delTGTGTA 0.985224 0.998 Uncertain 14_75378331_T->C 14 75378331 75378331 T C snp 1806.77 1/1 99 63 0 63 1.0 intronic rs759057 RPS6KL1 AU NM_031464 exon7 c.4780-165T>C 0.976038 0.994 Uncertain 14_75385437_C->T 14 75385437 75385437 C T snp 43.77 0/1 70 4 2 2 0.5 intronic rs2286912 RPS6KL1 AU NM_031464 exon8 c.11592+129C>T 0.335863 0.2222 Uncertain 14_75386530_-->GG 14 75386530 75386530 - GG indel 695.73 0/1 99 37 13 24 0.65 intronic rs373705917 RPS6KL1 AU NM_031464 exon9 c.12831-17insGG 0.277556 0.1855 0.2368 0.1524 Uncertain 14_75386576_G->A 14 75386576 75386576 G A snp 930.77 0/1 99 94 53 41 0.44 exonic rs2286913 RPS6KL1 AU nonsynonymous SNV NM_031464 exon3 c.C362T p.P121L 0.297923 0.5853 0.270455 0.3463 0.5339 0.21 T 0.523 P -0.974 T 0.533 P 0.091 P Pathogenic 14_75388183_C->T 14 75388183 75388183 C T snp 2979.77 0/1 99 242 118 124 0.51 exonic rs7156590 RPS6KL1 AU nonsynonymous SNV NM_031464 exon2 c.G62A p.R21Q 0.351837 0.5903 0.321467 0.3637 0.5416 0.14 T 0.0 P -0.899 T 0.626 T 0.054 P Pathogenic 14_75412908_A->G 14 75412908 75412908 A G snp 3033.77 1/1 99 98 0 98 1.0 intronic rs8005277 PGF AU NM_002632 exon2 c.3507-7A>G 0.999601 1 0.999692 0.9999 1 Uncertain 14_75415194_G->C 14 75415194 75415194 G C snp 3152.77 1/1 99 111 0 111 1.0 intronic rs2159907 PGF AU NM_001207012 exon3 c.5801-15G>C 0.99381 1 0.989697 0.9899 1 Uncertain 14_75470446_C->A 14 75470446 75470446 C A snp 2333.77 1/1 99 83 0 83 1.0 intronic rs175041 EIF2B2 AR NM_014239 exon3 c.709+44C>A 0.986022 1 0.984469 0.9956 1 Uncertain 14_75476071_G->C 14 75476071 75476071 G C snp 99.28 1/1 9 3 0 3 1.0 UTR3 rs4556 EIF2B2 AR 0.517572 0.8393 Uncertain 14_75483812_T->C 14 75483812 75483812 T C snp 2815.77 1/1 99 107 0 107 1.0 exonic rs13712 MLH3 AU synonymous SNV NM_001040108 exon13 c.A4335G p.Q1445Q 0.580072 0.8393 0.501922 0.5634 0.8291 0.0 P -1.019 T Likely benign 14_75484057_T->C 14 75484057 75484057 T C snp 264.8 1/1 21 7 0 7 1.0 intronic rs175050 MLH3 AU NM_014381 exon1 c.120+153T>C 0.989417 1 Uncertain 14_75485406_G->A 14 75485406 75485406 G A snp 821.77 1/1 63 21 0 21 1.0 intronic rs175052 MLH3 AU NM_014381 exon2 c.1747-125G>A 0.985623 1 Uncertain 14_75485489_A->G 14 75485489 75485489 A G snp 2752.77 1/1 99 97 0 97 1.0 intronic rs175053 MLH3 AU NM_014381 exon2 c.1747-42A>G 0.990615 1 0.988851 0.9968 1 Uncertain 14_75489446_T->C 14 75489446 75489446 T C snp 288.78 1/1 24 8 0 8 1.0 intronic rs175056 MLH3 AU NM_014381 exon3 c.5732-70T>C 0.990415 1 Uncertain 14_75497130_C->A 14 75497130 75497130 C A snp 1495.77 1/1 99 40 0 40 1.0 intronic rs175070 MLH3 AU NM_014381 exon5 c.13461-115C>A 0.986222 1 Uncertain 14_75505008_G->C 14 75505008 75505008 G C snp 3519.77 1/1 99 119 0 119 1.0 intronic rs3742780 MLH3 AU NM_014381 exon7 c.21258-34G>C 0.496605 0.8373 0.400892 0.5039 0.8280 Uncertain 14_75505016_A->G 14 75505016 75505016 A G snp 3854.77 1/1 99 128 0 128 1.0 intronic rs175075 MLH3 AU NM_014381 exon7 c.21258-26A>G 0.986222 1 0.984469 0.9956 1 Uncertain 14_75513883_T->C 14 75513883 75513883 T C snp 7488.77 1/1 99 244 0 244 1.0 exonic rs175081 MLH3 AU nonsynonymous SNV NM_001040108 exon2 c.A2476G p.N826D 0.990415 1 0.988774 0.9968 1 0.85 T 0.000 P -0.969 T 0.001 T 0.0 T Pathogenic 14_75520065_T->C 14 75520065 75520065 T C snp 351.78 1/1 27 9 0 9 1.0 UTR3 rs7303 ACYP1 AU 0.496805 0.8373 Uncertain 14_75528580_G->A 14 75528580 75528580 G A snp 520.77 1/1 39 13 0 13 1.0 intronic rs10129657 ACYP1 AU NM_001107 exon2 c.10026-1592G>A 0.522963 0.8373 Uncertain 14_75537381_C->T 14 75537381 75537381 C T snp 5603.77 1/1 99 205 0 205 1.0 exonic rs11546525 ZC2HC1C AU synonymous SNV NM_001042430 exon2 c.C105T p.Y35Y 0.349241 0.6468 0.313946 0.4020 0.6415 Uncertain 14_75538217_G->T 14 75538217 75538217 G T snp 4520.77 1/1 99 159 0 159 1.0 exonic rs3742778 ZC2HC1C AU nonsynonymous SNV NM_024643 exon2 c.G941T p.G314V 0.522764 0.8373 0.429836 0.5128 0.8273 0.317 P -1.013 T 0.001 T 0.003 T Pathogenic 14_75543979_T->C 14 75543979 75543979 T C snp 57.74 1/1 6 3 0 3 1.0 intronic rs12889472 ZC2HC1C AU NM_001042430 exon3 c.6958-255T>C 0.509784 0.8373 Uncertain 14_75544101_C->T 14 75544101 75544101 C T snp 696.77 1/1 51 23 0 23 1.0 intronic rs12589815 ZC2HC1C AU NM_001042430 exon3 c.6958-133C>T 0.508387 0.8373 Uncertain 14_75544189_G->A 14 75544189 75544189 G A snp 1722.77 1/1 99 66 0 66 1.0 intronic rs12589876 ZC2HC1C AU NM_001042430 exon3 c.6958-45G>A 0.496206 0.8373 0.401280 0.5048 0.8277 Uncertain 14_75551254_C->T 14 75551254 75551254 C T snp 1536.77 1/1 99 49 0 49 1.0 UTR3 rs175487 NEK9 AR,AU 0.988219 1 0.985853 0.9961 1 Uncertain 14_75551442_A->C 14 75551442 75551442 A C snp 3980.77 1/1 99 143 0 143 1.0 intronic rs175486 NEK9 AR,AU NM_033116 exon1 c.123+53A>C 0.989217 1 Uncertain 14_75553655_T->C 14 75553655 75553655 T C snp 2148.77 1/1 99 70 0 70 1.0 intronic rs175485 NEK9 AR,AU NM_033116 exon2 c.2454-65T>C 0.980032 1 Uncertain 14_75572559_T->C 14 75572559 75572559 T C snp 218.84 1/1 18 7 0 7 1.0 intronic rs119077 NEK9 AR,AU NM_033116 exon10 c.21386-93T>C 0.980032 1 Uncertain 14_75574087_C->T 14 75574087 75574087 C T snp 4407.77 1/1 99 173 2 171 0.99 exonic rs10146482 NEK9 AR,AU nonsynonymous SNV NM_033116 exon11 c.G1286A p.R429H 0.523562 0.8373 0.430263 0.5113 0.8279 0.27 T 0.000 P -0.928 T 0.002 T 0.002 T Pathogenic 14_75580152_G->A 14 75580152 75580152 G A snp 1834.77 1/1 99 66 0 66 1.0 intronic rs175464 NEK9 AR,AU NM_033116 exon15 c.28840+46G>A 0.990415 1 0.988774 0.9968 1 Uncertain 14_75587351_T->C 14 75587351 75587351 T C snp 824.77 1/1 60 28 0 28 1.0 intronic rs175454 NEK9 AR,AU NM_033116 exon19 c.36017+68T>C 0.980032 1 Uncertain 14_75590822_G->A 14 75590822 75590822 G A snp 4958.77 1/1 99 186 0 186 1.0 exonic rs8017642 NEK9 AR,AU synonymous SNV NM_033116 exon2 c.C324T p.H108H 0.498602 0.8373 0.402430 0.5042 0.8281 Uncertain 14_75601737_A->G 14 75601737 75601737 A G snp 3326.77 1/1 99 123 0 123 1.0 intronic rs12435391 TMED10 AU NM_006827 exon1 c.122+28A>G 0.496805 0.8393 0.400431 0.5048 0.8287 Uncertain 14_75601862_A->G 14 75601862 75601862 A G snp 476.77 1/1 36 15 0 15 1.0 intronic rs876402 TMED10 AU NM_006827 exon1 c.122+153A>G 0.524361 0.8393 Uncertain 14_75605792_A->G 14 75605792 75605792 A G snp 2005.77 1/1 99 83 0 83 1.0 intronic rs1047418 TMED10 AU NM_006827 exon2 c.1002+3203A>G 0.510583 0.8393 0.4583 0.7154 Uncertain 14_75614504_-->CCCG 14 75614504 75614504 - CCCG indel 420.75 1/1 24 19 0 19 1.0 intronic rs3832966 TMED10 AU NM_006827 exon3 c.12853+64insCCCG 0.495407 0.8353 0.249301 Uncertain 14_75619035_C->T 14 75619035 75619035 C T snp 133.03 1/1 12 5 0 5 1.0 intronic rs175427 TMED10 AU NM_006827 exon4 c.17259+189C>T 0.990415 1 Uncertain 14_75705656_G->A 14 75705656 75705656 G A snp 1310.77 0/1 99 83 30 53 0.64 intergenic rs72719908 TMED10 AU 0.0902556 0.1806 0.0970 0.1061 Uncertain 14_75705863_C->T 14 75705863 75705863 C T snp 1421.77 0/1 99 131 70 61 0.47 intergenic rs55641408 TMED10 AU 0.0902556 0.1806 0.0972 0.1061 Uncertain 14_75735859_G->A 14 75735859 75735859 G A snp 2119.77 0/1 99 166 74 92 0.55 intergenic rs4903300 TMED10 AU 0.650759 0.5734 0.6364 0.5530 Uncertain 14_75745551_T->A 14 75745551 75745551 T A snp 648.77 0/1 99 40 20 20 0.5 UTR5 rs2239615 FOS AU 0.706869 0.5704 Uncertain 14_75745626_C->T 14 75745626 75745626 C T snp 1492.77 0/1 99 145 78 67 0.46 UTR5 rs7101 FOS AU 0.70627 0.5704 Uncertain 14_75746690_C->T 14 75746690 75746690 C T snp 1714.77 0/1 99 158 83 75 0.47 exonic rs1046117 FOS AU synonymous SNV NM_005252 exon2 c.C252T p.S84S 0.702476 0.5665 0.780563 0.7054 0.5617 1.0 P -1.008 T Likely benign 14_75747118_G->T 14 75747118 75747118 G T snp 80.77 0/1 99 6 3 3 0.5 intronic rs1063169 FOS AU NM_005252 exon3 c.1577-144G>T 0.113019 0.2619 Uncertain 14_75747408_G->- 14 75747408 75747408 G - indel 2964.73 0/1 99 211 115 96 0.45 intronic rs3216792 FOS AU NM_005252 exon3 c.1685+38delG 0.703874 0.5665 0.784185 0.7092 0.5624 Uncertain 14_75758770_G->A 14 75758770 75758770 G A snp 1148.77 0/1 99 121 70 51 0.42 intergenic rs3742770 FOS AU 0.282149 0.2331 Uncertain 14_75758885_A->G 14 75758885 75758885 A G snp 4478.77 1/1 99 157 0 157 1.0 intergenic rs3742769 FOS AU 0.773562 0.8343 0 D 1.000 P -1.012 T Uncertain 14_75759060_C->T 14 75759060 75759060 C T snp 1754.77 0/1 99 144 68 76 0.53 intergenic rs3742768 FOS AU 0.329473 0.2321 0.08 T 1.000 P -0.920 T Uncertain 14_75760855_G->C 14 75760855 75760855 G C snp 2027.77 0/1 99 195 102 93 0.48 upstream rs3742767 LINC01220 AU 0.385383 0.2341 Uncertain 14_75904660_A->G 14 75904660 75904660 A G snp 1151.77 0/1 99 93 51 42 0.45 exonic rs3625 JDP2 AU nonsynonymous SNV NM_001135047 exon2 c.A37G p.T13A 0.60643 0.6567 0.601138 0.5298 0.6455 1 T 0.000 P -0.949 T 0.0 T 0.0 T Pathogenic 14_75989286_G->T 14 75989286 75989286 G T snp 178.77 0/1 99 14 6 8 0.57 intronic rs175722 BATF AU NM_006399 exon1 c.63+198G>T 0.703075 0.5992 Uncertain 14_76045220_T->C 14 76045220 76045220 T C snp 4452.77 1/1 99 144 0 144 1.0 ncRNA_exonic rs11845734 LOC102724153 AU 0.449081 0.5694 Uncertain 14_76045245_C->T 14 76045245 76045245 C T snp 6618.77 1/1 99 230 0 230 1.0 ncRNA_exonic rs11849590 LOC102724153 AU 0.13758 0.2202 Uncertain 14_76045362_T->C 14 76045362 76045362 T C snp 8514.77 1/1 99 249 0 249 1.0 exonic rs2287015 FLVCR2 AR nonsynonymous SNV NM_017791 exon1 c.T47C p.V16A 0.473842 0.5694 0.372982 0.3252 0.5702 0.86 T 0.000 P -0.965 T 0.0 T 0.0 T CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000081864.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 14_76045858_G->A 14 76045858 76045858 G A snp 5483.77 1/1 99 186 0 186 1.0 exonic rs2287016 FLVCR2 AR synonymous SNV NM_017791 exon1 c.G543A p.V181V 0.473442 0.5685 0.373520 0.3254 0.5707 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000081865.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 14_76045963_C->G 14 76045963 76045963 C G snp 6515.77 1/1 99 249 1 248 1.0 exonic rs2287017 FLVCR2 AR synonymous SNV NM_017791 exon1 c.C648G p.S216S 0.473842 0.5694 0.371905 0.3255 0.5700 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000081866.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 14_76046104_A->G 14 76046104 76046104 A G snp 1028.77 1/1 42 29 1 28 0.97 intronic rs2287018 FLVCR2 AR NM_017791 exon1 c.669+120A>G 0.474241 0.5694 Uncertain 14_76071694_C->T 14 76071694 76071694 C T snp 514.77 1/1 39 14 0 14 1.0 intronic rs3784006 FLVCR2 AR NM_017791 exon2 c.43106-16727C>T 0.269169 0.5744 Uncertain 14_76072028_T->C 14 76072028 76072028 T C snp 1274.77 1/1 93 43 0 43 1.0 intronic rs4903337 FLVCR2 AR NM_001195283 exon1 c.54+61T>C 0.58127 0.6806 Uncertain 14_76186376_A->G 14 76186376 76186376 A G snp 559.77 1/1 42 16 0 16 1.0 intronic rs2241442 TTLL5 AR NM_015072 exon11 c.56677+207A>G 0.432708 0.6022 Uncertain 14_76232398_T->C 14 76232398 76232398 T C snp 1177.77 1/1 84 40 0 40 1.0 intronic rs2359870 TTLL5 AR NM_015072 exon20 c.102912-6T>C 0.997005 1 0.995848 0.9989 1 Uncertain 14_76242139_T->C 14 76242139 76242139 T C snp 261.8 1/1 21 7 0 7 1.0 intronic rs1035615 TTLL5 AR NM_015072 exon22 c.112481+166T>C 0.995208 1 Uncertain 14_76287061_T->C 14 76287061 76287061 T C snp 1641.77 1/1 99 66 0 66 1.0 intronic rs12206 TTLL5 AR NM_015072 exon28 c.157012+557T>C 0.917332 0.9315 Uncertain 14_76330181_G->A 14 76330181 76330181 G A snp 791.77 1/1 57 31 0 31 1.0 exonic rs3742764 TTLL5 AR synonymous SNV NM_015072 exon29 c.G3498A p.L1166L 0.21845 0.4137 0.131170 0.1335 0.4153 Uncertain 14_76352929_C->T 14 76352929 76352929 C T snp 407.77 1/1 33 11 0 11 1.0 intronic rs1882827 TTLL5 AR NM_015072 exon30 c.219753+3684C>T 0.894968 0.9107 Uncertain 14_76368544_T->C 14 76368544 76368544 T C snp 3379.77 1/1 99 126 0 126 1.0 exonic rs1133834 TTLL5 AR nonsynonymous SNV NM_015072 exon31 c.T3800C p.F1267S 0.425519 0.494 0.290251 0.2831 0.5378 0.72 T 0.000 P -0.964 T 0.0 T 0.002 T Pathogenic 14_76488551_A->G 14 76488551 76488551 A G snp 99.28 1/1 9 4 0 4 1.0 intronic rs2058941 IFT43 AR NM_001102564 exon3 c.36540-118A>G 0.998403 1 Uncertain 14_76548784_GACCTT->- 14 76548784 76548789 GACCTT - indel 3305.73 0/1 99 64 20 44 0.69 intronic rs137916626 IFT43 AR NM_001102564 exon6 c.96581+74_96581+79delGACCTT 0.296326 0.3968 Uncertain 14_76549377_G->A 14 76549377 76549377 G A snp 225.77 0/1 99 14 7 7 0.5 intronic rs7161722 IFT43 AR NM_001102564 exon8 c.97440-192G>A 0.617013 0.5635 Uncertain 14_76549752_G->A 14 76549752 76549752 G A snp 767.77 0/1 99 67 38 29 0.43 intronic rs8536 IFT43 AR NM_001102564 exon9 c.97671-48G>A 0.295527 0.3968 0.293403 0.3584 0.4176 Uncertain 14_76618849_C->A 14 76618849 76618849 C A snp 224.84 1/1 18 6 0 6 1.0 intronic rs4899584 GPATCH2L AU 0.386182 0.4712 Uncertain 14_76619167_A->C 14 76619167 76619167 A C snp 1572.77 1/1 99 48 0 48 1.0 intronic rs3813547 GPATCH2L AU 0.464856 0.6022 0.6124 0.6791 Uncertain 14_76638466_A->G 14 76638466 76638466 A G snp 1512.77 1/1 99 52 0 52 1.0 intronic rs3783997 GPATCH2L AU NM_017926 exon4 c.17656+104A>G 0.602835 0.6984 Uncertain 14_76644623_G->A 14 76644623 76644623 G A snp 3445.77 1/1 99 131 0 131 1.0 intronic rs2121069 GPATCH2L AU NM_017926 exon7 c.23679+238G>A 0.579673 0.6984 Uncertain 14_76662446_C->T 14 76662446 76662446 C T snp 2206.77 1/1 99 69 0 69 1.0 intronic rs1900127 GPATCH2L AU NM_017926 exon9 c.41609+131C>T 0.583866 0.6984 0.6866 0.7208 0.0 P -0.984 T Uncertain 14_76720417_C->G 14 76720417 76720417 C G snp 325.77 0/1 99 18 6 12 0.67 intergenic rs11846524 GPATCH2L AU 0.429912 0.3145 Uncertain 14_76777257_C->T 14 76777257 76777257 C T snp 588.77 0/1 99 43 16 27 0.63 intergenic rs72729677 RNU6-19P AU 0.154952 0.2421 0.1275 0.2536 Uncertain 14_76906157_T->C 14 76906157 76906157 T C snp 1244.77 1/1 90 42 0 42 1.0 intronic rs12432875 ESRRB AR NM_004452 exon4 c.397+64T>C 0.548522 0.5506 Uncertain 14_76928772_A->G 14 76928772 76928772 A G snp 248.8 1/1 21 7 0 7 1.0 intronic rs10137295 ESRRB AR NM_004452 exon5 c.23191-115A>G 0.379593 0.2966 Uncertain 14_76948262_-->T 14 76948262 76948262 - T indel 2635.73 0/1 99 125 53 72 0.58 intronic rs11480158 ESRRB AR NM_004452 exon6 c.42662-96insT 0.513978 0.6835 Uncertain 14_76948862_T->C 14 76948862 76948862 T C snp 261.77 0/1 99 30 17 13 0.43 intronic rs10134248 ESRRB AR NM_004452 exon7 c.43244-78T>C 0.494409 0.6835 Uncertain 14_76949030_G->A 14 76949030 76949030 G A snp 1235.77 0/1 99 108 46 62 0.57 exonic ESRRB AR nonsynonymous SNV NM_004452 exon7 c.G715A p.A239T 0.42 T 1 D 0.390 D 0.355 T 0.205 T ID=COSM1707615,COSM1707616;OCCURENCE=1(skin) Pathogenic 14_76957887_T->C 14 76957887 76957887 T C snp 1641.77 1/1 99 57 0 57 1.0 exonic rs2361293 ESRRB AR synonymous SNV NM_004452 exon8 c.T885C p.Y295Y 0.992812 1 0.996309 0.9986 0.9998 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000038141.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 14_76964926_C->T 14 76964926 76964926 C T snp 1097.77 0/1 99 55 20 35 0.64 intronic rs10139705 ESRRB AR NM_004452 exon9 c.59099+131C>T 0.2498 0.254 Uncertain 14_76964976_T->C 14 76964976 76964976 T C snp 34.77 0/1 63 7 5 2 0.29 intronic rs10131211 ESRRB AR NM_004452 exon9 c.59099+181T>C 0.250799 0.252 Uncertain 14_77229539_G->A 14 77229539 77229539 G A snp 1044.77 1/1 75 38 0 38 1.0 intronic rs2270324 VASH1 AU NM_014909 exon1 c.309+66G>A 0.845248 0.876 Uncertain 14_77236147_G->A 14 77236147 77236147 G A snp 680.77 1/1 51 17 0 17 1.0 intronic rs7142166 VASH1 AU NM_014909 exon2 c.7141-158G>A 0.53774 0.4692 Uncertain 14_77236380_C->T 14 77236380 77236380 C T snp 4832.77 1/1 99 180 0 180 1.0 exonic rs3815550 VASH1 AU synonymous SNV NM_014909 exon2 c.C384T p.Y128Y 0.53774 0.4633 0.575042 0.5777 0.4746 Uncertain 14_77239567_A->G 14 77239567 77239567 A G snp 789.77 0/1 99 91 54 37 0.41 intronic rs2075772 VASH1 AU NM_014909 exon4 c.10390+13A>G 0.392372 0.244 0.435799 0.4188 0.2381 Uncertain 14_77244496_A->C 14 77244496 77244496 A C snp 38.77 0/1 67 8 5 3 0.38 intronic rs72737518 VASH1 AU NM_014909 exon6 c.15250+82A>C 0.13099 0.2411 Uncertain 14_77245286_C->T 14 77245286 77245286 C T snp 2218.77 0/1 99 162 70 92 0.57 splicing rs2242621 VASH1 AU NM_014909 exon7 c.16124-2C>T 0.128794 0.2391 0.108412 0.1108 0.2613 Pathogenic 14_77245644_G->T 14 77245644 77245644 G T snp 512.77 0/1 99 31 11 20 0.65 UTR3 rs17104866 VASH1 AU 0.128994 0.2371 0.0976 0.2619 Uncertain 14_77255835_C->T 14 77255835 77255835 C T snp 229.77 0/1 99 14 5 9 0.64 intronic rs3825697 ANGEL1 AU NM_015305 exon1 c.161+104C>T 0.194888 0.2381 Uncertain 14_77269788_A->C 14 77269788 77269788 A C snp 591.77 0/1 99 46 20 26 0.57 exonic rs2075773 ANGEL1 AU nonsynonymous SNV NM_015305 exon7 c.T1544G p.F515C 0.128994 0.2381 0.108488 0.1104 0.2608 0.02 T 0.905 P -1.169 T 0.997 D 0.911 D Pathogenic 14_77276622_A->C 14 77276622 77276622 A C snp 33.77 0/1 62 15 11 4 0.27 intronic rs57335731 ANGEL1 AU NM_015305 exon9 c.20416+636A>C 0.121805 0.2371 0.1085 0.2273 Uncertain 14_77279064_A->G 14 77279064 77279064 A G snp 2350.77 1/1 99 89 0 89 1.0 intronic rs8008004 ANGEL1 AU NM_015305 exon10 c.23536-42A>G 0.987021 1 0.992072 0.9991 1 Uncertain 14_77279361_A->T 14 77279361 77279361 A T snp 48.74 1/1 6 2 0 2 1.0 upstream rs6574330 ANGEL1 AU 0.746006 0.6716 Uncertain 14_77293072_C->A 14 77293072 77293072 C A snp 718.77 0/1 99 44 21 23 0.52 intronic rs72737548 LRRC74A AU NM_194287 exon1 c.88+146C>A 0.125 0.2421 0.1260 0.3052 0.11 T 0.0 P -0.978 T Uncertain 14_77294876_T->C 14 77294876 77294876 T C snp 1488.77 0/1 99 131 67 64 0.49 intronic rs17104907 LRRC74A AU NM_194287 exon2 c.1924+114T>C 0.123602 0.2361 0.1323 0.3021 0 D 0.000 P -1.071 T Uncertain 14_77294950_C->T 14 77294950 77294950 C T snp 1010.77 0/1 99 95 50 45 0.47 intronic rs2142189 LRRC74A AU NM_194287 exon2 c.1924+188C>T 0.26877 0.256 0.3754 0.3011 Uncertain 14_77295192_G->A 14 77295192 77295192 G A snp 367.77 0/1 99 22 11 11 0.5 intronic rs2067007 LRRC74A AU NM_194287 exon2 c.1924+430G>A 0.274361 0.255 Uncertain 14_77305508_T->C 14 77305508 77305508 T C snp 174.9 1/1 15 6 0 6 1.0 intronic rs11628619 LRRC74A AU NM_194287 exon5 c.11476+1194T>C 0.340655 0.5317 Uncertain 14_77305833_C->T 14 77305833 77305833 C T snp 572.77 1/1 42 18 0 18 1.0 intronic rs12893724 LRRC74A AU NM_194287 exon5 c.11476+1519C>T 0.68111 0.8661 Uncertain 14_77311296_A->G 14 77311296 77311296 A G snp 2930.77 1/1 99 102 0 102 1.0 intronic rs12896621 LRRC74A AU NM_194287 exon7 c.18406+52A>G 0.873802 0.872 0.903328 Uncertain 14_77311445_T->C 14 77311445 77311445 T C snp 141.03 1/1 12 4 0 4 1.0 intronic rs11620630 LRRC74A AU NM_194287 exon7 c.18406+201T>C 0.563898 0.8502 Uncertain 14_77319806_T->G 14 77319806 77319806 T G snp 106.77 0/1 99 9 5 4 0.44 intronic rs75892531 LRRC74A AU NM_194287 exon9 c.26915+53T>G 0.618011 0.4504 Uncertain 14_77327254_T->G 14 77327254 77327254 T G snp 1968.77 1/1 99 62 0 62 1.0 intronic rs45536531 LRRC74A AU NM_194287 exon11 c.34344+72T>G 0.41234 0.5585 Uncertain 14_77327324_A->T 14 77327324 77327324 A T snp 507.77 1/1 39 13 0 13 1.0 intronic rs4619325 LRRC74A AU NM_194287 exon11 c.34344+142A>T 0.834665 0.8562 Uncertain 14_77332197_T->C 14 77332197 77332197 T C snp 83.28 1/1 9 3 0 3 1.0 intronic rs1882843 LRRC74A AU NM_194287 exon12 c.39472-113T>C 0.914736 0.8958 Uncertain 14_77332367_C->T 14 77332367 77332367 C T snp 1786.77 1/1 99 73 0 73 1.0 exonic rs1882844 LRRC74A AU synonymous SNV NM_194287 exon12 c.C1308T p.P436P 0.916733 0.8948 0.959475 0.9657 0.9124 Uncertain 14_77336428_G->A 14 77336428 77336428 G A snp 1261.77 0/1 99 146 86 60 0.41 intronic rs11625243 LRRC74A AU NM_194287 exon14 c.43629-39G>A 0.540735 0.5347 0.583676 0.6589 0.5455 Uncertain 14_77492891_G->A 14 77492891 77492891 G A snp 3036.77 0/1 99 250 138 112 0.45 exonic rs879027 IRF2BPL AU synonymous SNV NM_024496 exon1 c.C1245T p.Y415Y 0.381989 0.5238 0.420729 0.4780 0.5560 Uncertain 14_77493762_TGCTGC->- 14 77493762 77493767 TGCTGC - indel 1099.73 1/1 48 30 0 30 1.0 exonic rs200317113 IRF2BPL AU nonframeshift deletion NM_024496 exon1 c.369_374del p.123_125del 0.930112 0.872 0.4035 0.4194 Uncertain 14_77493875_T->C 14 77493875 77493875 T C snp 598.77 0/1 99 43 21 22 0.51 exonic rs71428775 IRF2BPL AU synonymous SNV NM_024496 exon1 c.A261G p.E87E 0.382588 0.5238 0.5049 0.5395 Uncertain 14_77571883_G->C 14 77571883 77571883 G C snp 141.03 1/1 12 4 0 4 1.0 intronic rs2111386 CIPC AU 0.238618 0.4355 Uncertain 14_77685383_G->C 14 77685383 77685383 G C snp 79.77 0/1 99 8 4 4 0.5 intronic rs1319322 TMEM63C AU NM_020431 exon3 c.150+77G>C 0.692492 0.627 Uncertain 14_77686303_A->C 14 77686303 77686303 A C snp 460.77 0/1 99 62 43 19 0.31 intronic rs2287377 TMEM63C AU NM_020431 exon5 c.1192-45A>C 0.847244 0.8155 0.856963 0.8725 0.7960 Uncertain 14_77691597_C->G 14 77691597 77691597 C G snp 86.77 0/1 28 4 1 3 0.75 intronic rs117989772 TMEM63C AU NM_020431 exon6 c.6610-169C>G 0.0183706 0.0813 Uncertain 14_77691652_G->A 14 77691652 77691652 G A snp 261.77 0/1 99 17 9 8 0.47 intronic rs440869 TMEM63C AU NM_020431 exon6 c.6610-114G>A 0.157548 0.1935 Uncertain 14_77691693_C->T 14 77691693 77691693 C T snp 656.77 0/1 99 55 30 25 0.45 intronic rs377468 TMEM63C AU NM_020431 exon6 c.6610-73C>T 0.164337 0.1964 0.180902 Uncertain 14_77691753_T->C 14 77691753 77691753 T C snp 989.77 0/1 99 106 62 44 0.42 intronic rs404728 TMEM63C AU NM_020431 exon6 c.6610-13T>C 0.155751 0.1944 0.165556 0.1979 0.1934 Uncertain 14_77697848_T->C 14 77697848 77697848 T C snp 222.77 0/1 99 14 7 7 0.5 intronic rs370853 TMEM63C AU NM_020431 exon7 c.12774-82T>C 0.053115 0.0804 Uncertain 14_77697967_A->G 14 77697967 77697967 A G snp 3605.77 1/1 99 132 0 132 1.0 exonic rs375566 TMEM63C AU synonymous SNV NM_020431 exon7 c.A387G p.A129A 1 1 0.999912 0.9998 1 Uncertain 14_77698211_C->T 14 77698211 77698211 C T snp 114.77 0/1 99 8 4 4 0.5 intronic rs403602 TMEM63C AU NM_020431 exon7 c.12917+138C>T 0.053115 0.0804 Uncertain 14_77698214_A->G 14 77698214 77698214 A G snp 114.77 0/1 99 8 4 4 0.5 intronic rs376281 TMEM63C AU NM_020431 exon7 c.12917+141A>G 0.575479 0.746 Uncertain 14_77698223_C->T 14 77698223 77698223 C T snp 77.77 0/1 94 6 3 3 0.5 intronic rs188988950 TMEM63C AU NM_020431 exon7 c.12917+150C>T 0.000599042 Uncertain 14_77699933_C->T 14 77699933 77699933 C T snp 665.77 0/1 99 49 22 27 0.55 intronic rs17750404 TMEM63C AU NM_020431 exon8 c.14687+90C>T 0.179712 0.1776 Uncertain 14_77699996_C->T 14 77699996 77699996 C T snp 210.77 0/1 99 18 11 7 0.39 intronic rs398269 TMEM63C AU NM_020431 exon8 c.14687+153C>T 0.0533147 0.0804 Uncertain 14_77700007_T->C 14 77700007 77700007 T C snp 65.77 0/1 94 12 9 3 0.25 intronic rs420661 TMEM63C AU NM_020431 exon8 c.14687+164T>C 0.0533147 0.0804 Uncertain 14_77702834_G->T 14 77702834 77702834 G T snp 110.77 0/1 99 9 4 5 0.56 intronic rs423656 TMEM63C AU NM_020431 exon9 c.17810-132G>T 0.0605032 0.0804 Uncertain 14_77703057_A->G 14 77703057 77703057 A G snp 2607.77 1/1 99 96 0 96 1.0 exonic rs403291 TMEM63C AU synonymous SNV NM_020431 exon9 c.A633G p.A211A 0.802516 0.9256 0.769429 0.7447 0.9286 Uncertain 14_77703143_T->C 14 77703143 77703143 T C snp 459.77 0/1 99 32 15 17 0.53 intronic rs440094 TMEM63C AU NM_020431 exon9 c.17919+68T>C 0.0776757 0.0804 Uncertain 14_77703202_G->A 14 77703202 77703202 G A snp 85.77 0/1 69 6 2 4 0.67 intronic rs413481 TMEM63C AU NM_020431 exon9 c.17919+127G>A 0.053115 0.0804 Uncertain 14_77704974_G->C 14 77704974 77704974 G C snp 1912.77 0/1 99 166 83 83 0.5 intronic rs8010477 TMEM63C AU NM_020431 exon10 c.19880-62G>C 0.949281 0.9196 0.937801 Uncertain 14_77705726_C->T 14 77705726 77705726 C T snp 2153.77 0/1 99 182 85 97 0.53 intronic rs4899646 TMEM63C AU NM_020431 exon11 c.20598-28C>T 0.201677 0.1597 0.237248 0.2465 0.1513 Uncertain 14_77709120_A->G 14 77709120 77709120 A G snp 190.77 0/1 99 12 6 6 0.5 intronic rs2287380 TMEM63C AU NM_020431 exon15 c.24089-125A>G 0.946486 0.9058 Uncertain 14_77709450_T->G 14 77709450 77709450 T G snp 1166.77 1/1 87 35 0 35 1.0 intronic rs409109 TMEM63C AU NM_020431 exon15 c.24243+51T>G 0.840056 0.8968 0.815891 Uncertain 14_77709477_A->G 14 77709477 77709477 A G snp 554.77 1/1 42 14 0 14 1.0 intronic rs409306 TMEM63C AU NM_020431 exon15 c.24243+78A>G 0.840256 0.8968 Uncertain 14_77719847_T->C 14 77719847 77719847 T C snp 35.77 0/1 64 7 4 3 0.43 intronic rs55891227 TMEM63C AU NM_020431 exon23 c.34563+128T>C 0.263379 0.3075 Uncertain 14_77733118_T->- 14 77733118 77733118 T - indel 978.73 0/1 99 72 32 40 0.56 intronic rs28909968 NGB AU NM_021257 exon1 c.135+105delT 0.276158 0.4673 Uncertain 14_77737088_G->A 14 77737088 77737088 G A snp 1011.77 0/1 99 69 26 43 0.62 intronic rs4903565 NGB AU NM_021257 exon4 c.4313-103G>A 0.363019 0.4742 Uncertain 14_77743644_G->A 14 77743644 77743644 G A snp 675.77 0/1 99 27 8 19 0.7 UTR3 rs1055592 POMT2 AR 0.26857 0.4276 Uncertain 14_77745193_A->C 14 77745193 77745193 A C snp 4147.77 1/1 99 154 0 154 1.0 exonic rs3209079 POMT2 AR synonymous SNV NM_013382 exon19 c.T1911G p.L637L 0.847045 0.9544 0.819468 0.8176 0.9650 1.000 P -1.038 T CLINSIG=non-pathogenic|non-pathogenic,non-pathogenic;CLNDBN=not_specified|Congenital_muscular_dystrophy,not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter|criteria_provided\x2c_single_submitter,no_assertion_criteria_provided;CLNACC=RCV000118038.1|RCV000127578.2,RCV000153051.2;CLNDSDB=MedGen|GeneReviews:MedGen:SNOMED_CT,MedGen;CLNDSDBID=CN169374|NBK1291:C0699743:240059009,CN169374 Likely benign 14_77745376_G->A 14 77745376 77745376 G A snp 608.77 0/1 99 68 40 28 0.41 intronic rs61990291 POMT2 AR NM_013382 exon3 c.1494+164G>A 0.284944 0.4653 Uncertain 14_77746112_T->C 14 77746112 77746112 T C snp 1945.77 0/1 99 158 83 75 0.47 intronic rs11625197 POMT2 AR NM_013382 exon4 c.2447-53T>C 0.227835 0.4554 0.3708 0.5720 Uncertain 14_77746310_G->A 14 77746310 77746310 G A snp 2722.77 0/1 99 247 129 118 0.48 intronic rs438931 POMT2 AR NM_013382 exon4 c.2553+39G>A 0.178514 0.3294 0.121790 0.1442 0.3507 Uncertain 14_77746847_C->G 14 77746847 77746847 C G snp 1640.77 0/1 99 118 46 72 0.61 intronic rs71413457 POMT2 AR NM_013382 exon6 c.3088+41C>G 0.0107827 0.016531 0.0162 0 Uncertain 14_77750057_T->G 14 77750057 77750057 T G snp 597.77 0/1 99 32 12 20 0.63 intronic rs2216089 POMT2 AR NM_013382 exon7 c.6421-82T>G 0.492013 0.495 Uncertain 14_77751729_T->C 14 77751729 77751729 T C snp 50.74 1/1 6 2 0 2 1.0 intronic rs3815625 POMT2 AR NM_013382 exon9 c.8105-94T>C 0.861422 0.9534 Uncertain 14_77751925_C->T 14 77751925 77751925 C T snp 3686.77 1/1 99 143 0 143 1.0 exonic rs2270419 POMT2 AR synonymous SNV NM_013382 exon13 c.G1383A p.R461R 0.858227 0.9534 0.828002 0.8208 0.9651 CLINSIG=non-pathogenic,non-pathogenic;CLNDBN=Congenital_muscular_dystrophy,not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter,no_assertion_criteria_provided;CLNACC=RCV000127577.2,RCV000153056.2;CLNDSDB=GeneReviews:MedGen:SNOMED_CT,MedGen;CLNDSDBID=NBK1291:C0699743:240059009,CN169374 Uncertain 14_77755221_T->G 14 77755221 77755221 T G snp 1362.77 0/1 99 105 49 56 0.53 intronic rs2287387 POMT2 AR NM_013382 exon11 c.11456+47T>G 0.476438 0.4752 0.521605 0.5081 0.4608 Uncertain 14_77766025_G->A 14 77766025 77766025 G A snp 625.77 0/1 99 50 23 27 0.54 intronic rs2287389 POMT2 AR NM_013382 exon15 c.22186+121G>A 0.265575 0.3929 Uncertain 14_77766027_A->G 14 77766027 77766027 A G snp 616.77 0/1 99 47 21 26 0.55 intronic rs2287390 POMT2 AR NM_013382 exon15 c.22186+123A>G 0.271965 0.4137 Uncertain 14_77767382_A->G 14 77767382 77767382 A G snp 591.77 0/1 99 49 26 23 0.47 intronic rs2287392 POMT2 AR NM_013382 exon16 c.23714-50A>G 0.295927 0.4702 0.219437 0.2681 0.4946 Uncertain 14_77787088_C->T 14 77787088 77787088 C T snp 38.77 0/1 67 5 3 2 0.4 UTR5 rs2270421 POMT2 AR 0.223043 0.4345 Uncertain 14_77787695_G->T 14 77787695 77787695 G T snp 824.77 0/1 99 68 33 35 0.51 intronic rs8177537 GSTZ1 AU NM_145870 exon1 c.15+169G>T 0.0617013 0.0248 0.1254 0.0389 Uncertain 14_77790872_T->A 14 77790872 77790872 T A snp 2517.77 0/1 99 226 110 116 0.51 intronic rs8016187 GSTZ1 AU NM_145870 exon2 c.3701-340T>A 0.220447 0.4474 Uncertain 14_77793207_G->A 14 77793207 77793207 G A snp 1608.77 0/1 99 125 58 67 0.54 exonic rs7975 GSTZ1 AU nonsynonymous SNV NM_145870 exon3 c.G94A p.E32K 0.311502 0.4683 0.316239 0.3748 0.5053 0.02 T 1.0 P -0.898 T 0.996 D 0.905 D ID=CM1213373;DIS=Bipolar disorder, early-onset, association with;TAG=DP;PUB=22374552 DP Pathogenic 14_77794283_T->C 14 77794283 77794283 T C snp 2952.77 0/1 99 249 126 123 0.49 exonic rs1046428 GSTZ1 AU nonsynonymous SNV NM_145870 exon5 c.T245C p.M82T 0.853035 0.9554 0.837537 0.8162 0.9653 1 T 0.000 P -0.966 T 0.0 T 0.0 T Pathogenic 14_77795312_T->- 14 77795312 77795312 T - indel 1806.73 0/1 99 89 39 50 0.56 intronic rs5809824 GSTZ1 AU NM_145870 exon6 c.7954-153delT 0.852436 0.9554 Uncertain 14_77795638_G->A 14 77795638 77795638 G A snp 252.77 0/1 99 15 7 8 0.53 intronic rs2270423 GSTZ1 AU NM_145870 exon6 c.8033+94G>A 0.298123 0.4534 Uncertain 14_77796641_G->A 14 77796641 77796641 G A snp 5006.77 1/1 99 186 0 186 1.0 intronic rs731346 GSTZ1 AU NM_145870 exon8 c.9141-11G>A 0.651158 0.5397 0.669306 0.5795 0.5159 Uncertain 14_77843363_A->G 14 77843363 77843363 A G snp 399.77 0/1 50 24 6 18 0.75 exonic rs10141114 TMED8 AU nonsynonymous SNV NM_213601 exon1 c.T34C p.S12P 0.151757 0.0159 0.2908 0.0161 0.3 T 1.000 P -0.954 T 0.192 T 0.058 T Pathogenic 14_77843416_C->A 14 77843416 77843416 C A snp 87.77 0/1 99 28 22 6 0.21 upstream rs150571067 SAMD15 AU 0.00499201 0.0248 0.0078 0.0833 Uncertain 14_77843814_T->C 14 77843814 77843814 T C snp 745.77 0/1 99 81 48 33 0.41 exonic rs11844594 SAMD15 AU nonsynonymous SNV NM_001010860 exon1 c.T53C p.L18P 0.513179 0.0893 0.588575 0.4829 0.0790 0.33 T 0.0 P -1.024 T 0.0 T 0.0 T Pathogenic 14_77843971_C->T 14 77843971 77843971 C T snp 2135.77 0/1 99 182 91 91 0.5 exonic rs45540040 SAMD15 AU synonymous SNV NM_001010860 exon1 c.C210T p.D70D 0.141573 0.0159 0.161003 0.1899 0.0105 Uncertain 14_77844265_G->A 14 77844265 77844265 G A snp 1589.77 0/1 99 135 70 65 0.48 exonic rs45527334 SAMD15 AU nonsynonymous SNV NM_001010860 exon1 c.G504A p.M168I 0.141573 0.0159 0.160311 0.1905 0.0106 0.14 T 0.0 P -0.931 T 0.0 T 0.0 T Pathogenic 14_77844592_T->A 14 77844592 77844592 T A snp 964.77 0/1 99 77 41 36 0.47 exonic rs10133824 SAMD15 AU synonymous SNV NM_001010860 exon1 c.T831A p.G277G 0.151757 0.0159 0.172459 0.1941 0.0106 Uncertain 14_77844869_A->G 14 77844869 77844869 A G snp 2827.77 0/1 99 207 92 115 0.56 exonic rs4903576 SAMD15 AU nonsynonymous SNV NM_001010860 exon1 c.A1108G p.K370E 0.523163 0.0893 0.596109 0.4845 0.0781 1 T 0.0 P -0.987 T 0.0 T 0.0 T Pathogenic 14_77845121_A->G 14 77845121 77845121 A G snp 2297.77 0/1 99 153 68 85 0.56 exonic rs2193595 SAMD15 AU nonsynonymous SNV NM_001010860 exon1 c.A1360G p.K454E 0.512979 0.0883 0.588113 0.4823 0.0781 1 T 0.0 P -0.979 T 0.0 T 0.0 T Pathogenic 14_77880305_C->T 14 77880305 77880305 C T snp 404.77 0/1 99 27 15 12 0.44 exonic rs10130481 NOXRED1 AU synonymous SNV NM_001113475 exon2 c.G321A p.R107R 0.150759 0.0159 0.165462 0.1888 0.0099 Uncertain 14_77880493_C->T 14 77880493 77880493 C T snp 840.77 0/1 99 56 23 33 0.59 intronic rs8005759 NOXRED1 AU NM_001113475 exon5 c.19497+23C>T 0.47524 0.9206 0.395971 0.5114 0.9320 Uncertain 14_77880525_TT->- 14 77880525 77880526 TT - indel 201.73 0/1 92 39 7 32 0.82 intronic rs10592368 NOXRED1 AU NM_001113475 exon5 c.19497+55_19497+56delTT 0.921326 0.997 Uncertain 14_77880593_T->C 14 77880593 77880593 T C snp 38.77 0/1 67 6 4 2 0.33 intronic rs11159258 NOXRED1 AU NM_001113475 exon5 c.19497+123T>C 0.523762 0.9335 Uncertain 14_77900165_C->T 14 77900165 77900165 C T snp 485.77 0/1 99 42 20 22 0.52 intronic rs34835605 VIPAS39 AR NM_001193315 exon5 c.6226-19C>T 0.138578 0.0159 0.151238 0.1826 0.0098 Uncertain 14_77901456_C->A 14 77901456 77901456 C A snp 46.78 0/1 27 3 1 2 0.67 intronic rs963283 VIPAS39 AR NM_001193315 exon7 c.7643-145C>A 0.474441 0.9226 Uncertain 14_77901758_-->AAA 14 77901758 77901758 - AAA indel 418.73 ./1 99 37 3 34 0.92 intronic rs113558496 VIPAS39 AR NM_001193315 exon7 c.7778+22insAAA 0.2676 0.4051 Uncertain 14_77901758_-->A 14 77901758 77901758 - A indel 418.73 ./1 99 37 3 34 0.92 intronic rs113558496 VIPAS39 AR NM_001193315 exon7 c.7778+22insA 0.3467 0.1335 Uncertain 14_77907228_-->T 14 77907228 77907228 - T indel 146.87 1/1 15 5 0 5 1.0 intronic rs11388351 VIPAS39 AR NM_001193315 exon10 c.13450-180insT 0.948682 1 Uncertain 14_77914674_T->C 14 77914674 77914674 T C snp 509.77 0/1 99 34 15 19 0.56 intronic rs10483882 VIPAS39 AR NM_001193315 exon14 c.20878-162T>C 0.151757 0.0228 Uncertain 14_77914752_A->G 14 77914752 77914752 A G snp 1118.77 0/1 99 114 66 48 0.42 intronic rs2091916 VIPAS39 AR NM_001193315 exon14 c.20878-84A>G 0.474441 0.9216 Uncertain 14_77916205_T->C 14 77916205 77916205 T C snp 556.77 0/1 99 35 14 21 0.6 intronic rs760252 VIPAS39 AR NM_001193315 exon16 c.22137+110T>C 0.140176 0.0228 Uncertain 14_77919418_T->C 14 77919418 77919418 T C snp 52.74 1/1 6 2 0 2 1.0 intronic rs2364157 VIPAS39 AR NM_001193315 exon18 c.25683-223T>C 0.944888 1 Uncertain 14_77919587_T->C 14 77919587 77919587 T C snp 5274.77 1/1 99 186 0 186 1.0 intronic rs2364158 VIPAS39 AR NM_001193315 exon18 c.25683-54T>C 0.944888 1 Uncertain 14_77923783_C->T 14 77923783 77923783 C T snp 1240.77 0/1 99 114 63 51 0.45 intronic rs11845345 VIPAS39 AR NM_001193315 exon20 c.29879-54C>T 0.139577 0.0169 0.2265 0.0076 Uncertain 14_77926011_C->T 14 77926011 77926011 C T snp 1889.77 0/1 99 159 80 79 0.5 exonic rs1061629 AHSA1 AU synonymous SNV NM_012111 exon2 c.C133T p.L45L 0.474441 0.9236 0.394972 0.5092 0.9332 Uncertain 14_77928476_C->T 14 77928476 77928476 C T snp 822.77 0/1 99 86 48 38 0.44 intronic rs12436593 AHSA1 AU NM_012111 exon3 c.3970-26C>T 0.510783 0.9177 0.433646 0.5225 0.93 Uncertain 14_77928525_A->G 14 77928525 77928525 A G snp 1263.77 0/1 99 110 58 52 0.47 exonic rs1061638 AHSA1 AU synonymous SNV NM_012111 exon3 c.A294G p.Q98Q 0.623802 0.9196 0.597724 0.6569 0.9315 1.0 P -1.046 T Likely benign 14_77928735_A->G 14 77928735 77928735 A G snp 174.77 0/1 99 20 13 7 0.35 intronic rs11159262 AHSA1 AU NM_012111 exon3 c.4053+150A>G 0.479633 0.9187 Uncertain 14_77930752_G->A 14 77930752 77930752 G A snp 639.77 1/1 48 18 0 18 1.0 intronic rs11624314 AHSA1 AU NM_012111 exon5 c.6408-188G>A 0.715056 0.9573 Uncertain 14_77930855_A->T 14 77930855 77930855 A T snp 766.77 0/1 99 73 39 34 0.47 intronic rs34099277 AHSA1 AU NM_012111 exon5 c.6408-85A>T 0.100839 0.0238 Uncertain 14_77932017_A->C 14 77932017 77932017 A C snp 1171.77 0/1 99 85 37 48 0.56 intronic rs7146595 AHSA1 AU NM_012111 exon6 c.7478+7A>C 0.479433 0.9187 0.401276 0.5117 0.9286 Uncertain 14_77932111_A->G 14 77932111 77932111 A G snp 57.77 0/1 86 11 8 3 0.27 intronic rs7146784 AHSA1 AU NM_012111 exon6 c.7478+101A>G 0.480831 0.9187 Uncertain 14_77934587_T->C 14 77934587 77934587 T C snp 526.77 0/1 99 51 30 21 0.41 intronic rs3825694 AHSA1 AU NM_012111 exon7 c.9995+60T>C 0.100639 0.0238 0.1535 0.0179 Uncertain 14_77934758_A->G 14 77934758 77934758 A G snp 840.77 0/1 99 74 35 39 0.53 intronic rs4903584 AHSA1 AU NM_012111 exon8 c.10267-41A>G 0.479433 0.9187 0.401123 0.5119 0.9288 Uncertain 14_77935239_-->G 14 77935239 77935239 - G indel 211.73 0/1 99 12 5 7 0.58 intronic rs5809831 AHSA1 AU NM_012111 exon9 c.10887-180insG 0.479433 0.9187 0.6134 0.9322 Uncertain 14_77935520_G->A 14 77935520 77935520 G A snp 2143.77 0/1 99 211 116 95 0.45 exonic rs7250 AHSA1 AU synonymous SNV NM_012111 exon9 c.G945A p.T315T 0.479433 0.9187 0.401123 0.5113 0.9287 1.000 P -1.035 T Likely benign 14_77941865_-->AGGGCCCTACC 14 77941865 77941865 - AGGGCCCTACC indel 659.87 1/1 15 5 0 5 1.0 UTR3 rs11276328 ISM2 AU 0.828474 0.9841 Uncertain 14_77951124_C->T 14 77951124 77951124 C T snp 3824.77 1/1 99 134 0 134 1.0 exonic rs3742728 ISM2 AU nonsynonymous SNV NM_182509 exon2 c.G280A p.A94T 0.589657 0.9494 0.521529 0.6567 0.9318 0.81 T 0.0 P -0.861 T 0.772 T 0.236 P Pathogenic 14_77964500_C->T 14 77964500 77964500 C T snp 547.77 0/1 99 51 27 24 0.47 intronic rs11851856 ISM2 AU NM_199296 exon7 c.23058-495C>T 0.108826 0.0615 Uncertain 14_77984573_C->T 14 77984573 77984573 C T snp 1131.77 1/1 81 42 0 42 1.0 intronic rs926114 SPTLC2 AD NM_004863 exon2 c.5884+63C>T 0.947883 1 Uncertain 14_77987958_C->A 14 77987958 77987958 C A snp 728.77 0/1 99 47 18 29 0.62 intronic rs2072672 SPTLC2 AD NM_004863 exon3 c.9298+34C>A 0.698682 0.9226 0.696602 0.7210 0.9247 Uncertain 14_78018246_T->C 14 78018246 78018246 T C snp 116.77 0/1 60 6 2 4 0.67 intronic rs11159275 SPTLC2 AD NM_004863 exon4 c.39812-192T>C 0.432708 0.881 Uncertain 14_78018614_C->T 14 78018614 78018614 C T snp 1291.77 1/1 93 44 0 44 1.0 intronic rs2178876 SPTLC2 AD NM_004863 exon4 c.39939+49C>T 0.948283 1 0.956174 0.9876 1 Uncertain 14_78023519_C->G 14 78023519 78023519 C G snp 873.77 0/1 99 95 52 43 0.45 intronic rs2272587 SPTLC2 AD NM_004863 exon6 c.44863+30C>G 0.480032 0.8839 0.441796 0.5355 0.8731 Uncertain 14_78028803_A->G 14 78028803 78028803 A G snp 1300.77 0/1 99 126 71 55 0.44 exonic rs2364602 SPTLC2 AD synonymous SNV NM_004863 exon6 c.T786C p.N262N 0.83746 0.9891 0.833846 0.9029 0.9945 1.0 P -1.014 T Likely benign 14_78063440_A->C 14 78063440 78063440 A C snp 484.77 0/1 99 22 8 14 0.64 intronic rs12435993 SPTLC2 AD NM_004863 exon11 c.84902-88A>C 0.263978 0.2202 Uncertain 14_78063824_T->- 14 78063824 78063824 T - indel 129.73 0/1 99 13 5 8 0.62 intronic rs34670650 SPTLC2 AD NM_004863 exon11 c.85097+101delT 0.482428 0.625 Uncertain 14_78170896_C->G 14 78170896 78170896 C G snp 2172.77 1/1 99 67 0 67 1.0 intronic rs8021036 ALKBH1 AU NM_006020 exon5 c.30666+76C>G 0.870208 0.8363 Uncertain 14_78174473_A->C 14 78174473 78174473 A C snp 2212.77 1/1 99 78 0 78 1.0 exonic rs11159286 SLIRP AU synonymous SNV NM_001267863 exon1 c.A19C p.R7R 0.870008 0.8363 0.923881 0.9226 0.8221 Uncertain 14_78176851_A->G 14 78176851 78176851 A G snp 4146.77 1/1 99 141 2 139 0.99 intronic rs1076496 SLIRP AU NM_031210 exon2 c.2726-329A>G 0.308906 0.5079 0.3586 0.5 Uncertain 14_78183706_C->T 14 78183706 78183706 C T snp 463.77 1/1 36 12 0 12 1.0 intronic rs176959 SLIRP AU NM_001267864 exon4 c.9368-116C>T 0.699481 0.6806 Uncertain 14_78184566_C->A 14 78184566 78184566 C A snp 3497.77 1/1 99 123 0 123 1.0 exonic rs176960 SNW1 AU synonymous SNV NM_012245 exon14 c.G1476T p.V492V 0.84365 0.7262 0.849685 0.8385 0.7469 0.065 P -1.008 T 0.0 T 0.0 T Likely benign 14_78187316_A->C 14 78187316 78187316 A C snp 639.77 1/1 48 22 0 22 1.0 intronic rs176965 SNW1 AU NM_012245 exon3 c.2741+145A>C 0.697085 0.6806 Uncertain 14_78197365_C->T 14 78197365 78197365 C T snp 2335.77 1/1 99 68 0 68 1.0 exonic rs114763 SNW1 AU synonymous SNV NM_012245 exon10 c.G999A p.E333E 0.622404 0.6796 0.532677 0.5712 0.6977 Uncertain 14_78199019_T->A 14 78199019 78199019 T A snp 1562.77 1/1 99 55 0 55 1.0 intronic rs12587825 SNW1 AU NM_012245 exon6 c.14514+75T>A 0.358027 0.5089 Uncertain 14_78200392_G->T 14 78200392 78200392 G T snp 1186.77 1/1 84 44 0 44 1.0 intronic rs10134425 SNW1 AU NM_012245 exon7 c.16859-897G>T 0.692891 0.6786 Uncertain 14_78226850_G->A 14 78226850 78226850 G A snp 987.77 1/1 72 30 0 30 1.0 intronic rs1477264 SNW1 AU NM_012245 exon14 c.43026-606G>A 0.543331 0.6726 Uncertain 14_78227632_C->G 14 78227632 78227632 C G snp 94.28 1/1 9 3 0 3 1.0 intronic rs2277917 C14orf178 AU NM_174943 exon1 c.74+173C>G 0.595447 0.6746 Uncertain 14_78285462_T->- 14 78285462 78285462 T - indel 5094.73 1/1 99 144 0 144 1.0 splicing rs3214433 ADCK1 AU NM_001142545 exon2 c.135+6delT 0.555312 0.5238 0.604153 0.6324 0.5127 Pathogenic 14_78325698_C->T 14 78325698 78325698 C T snp 808.77 1/1 60 27 0 27 1.0 intronic rs7149884 ADCK1 AU NM_020421 exon4 c.40301+76C>T 0.39397 0.503 Uncertain 14_78353251_ACACACACACAC->- 14 78353251 78353262 ACACACACACAC - indel 1329.74 1/1 30 10 0 10 1.0 intronic rs143677392 ADCK1 AU NM_001142545 exon4 c.68112-182_68112-171delACACACACACAC Uncertain 14_78353272_C->A 14 78353272 78353272 C A snp 664.9 1/1 15 22 1 21 0.95 intronic rs141131103 ADCK1 AU NM_001142545 exon4 c.68112-161C>A Uncertain 14_78353368_T->C 14 78353368 78353368 T C snp 3663.77 1/1 99 127 0 127 1.0 intronic rs17826188 ADCK1 AU NM_001142545 exon4 c.68112-65T>C 0.396166 0.5099 Uncertain 14_78365612_C->T 14 78365612 78365612 C T snp 2042.77 1/1 99 74 0 74 1.0 intronic rs2287650 ADCK1 AU NM_001142545 exon5 c.80280+11C>T 0.372204 0.4544 0.357527 0.4097 0.4458 Uncertain 14_78366933_-->AAC 14 78366933 78366933 - AAC indel 11999.7 1/1 99 248 4 244 0.98 intronic rs3082719 ADCK1 AU NM_001142545 exon5 c.80280+1332insAAC 0.370607 0.4464 0.3787 0.375 Uncertain 14_78366967_A->G 14 78366967 78366967 A G snp 8055.77 1/1 99 250 0 250 1.0 intronic rs734654 ADCK1 AU NM_001142545 exon5 c.80280+1366A>G 0.391773 0.4563 0.4263 0.3955 Uncertain 14_78374292_C->T 14 78374292 78374292 C T snp 1765.77 0/1 99 169 85 84 0.5 intronic rs17106595 ADCK1 AU NM_001142545 exon6 c.88941+30C>T 0.0852636 0.002 0.128018 0.1252 0.0010 Uncertain 14_78390880_T->C 14 78390880 78390880 T C snp 1644.77 0/1 99 160 87 73 0.46 exonic rs2302944 ADCK1 AU synonymous SNV NM_001142545 exon7 c.T735C p.N245N 0.234625 0.2798 0.200215 0.2301 0.2843 Uncertain 14_78392008_C->T 14 78392008 78392008 C T snp 1006.77 0/1 99 55 22 33 0.6 intronic rs11850022 ADCK1 AU NM_001142545 exon8 c.106785-98C>T 0.252995 0.4048 Uncertain 14_78709814_T->C 14 78709814 78709814 T C snp 2842.77 0/1 99 216 98 118 0.55 intergenic rs1882821 ADCK1 AU 0.138578 0.0526 0.170855 0.2765 0.0869 Uncertain 14_78716226_C->T 14 78716226 78716226 C T snp 54.74 1/1 6 2 0 2 1.0 intergenic rs8003110 ADCK1 AU 0.910543 0.9643 Uncertain 14_78744823_G->A 14 78744823 78744823 G A snp 787.77 1/1 60 22 0 22 1.0 intergenic rs10134857 ADCK1 AU 0.994409 1 Uncertain 14_78748366_C->T 14 78748366 78748366 C T snp 1806.77 1/1 99 69 0 69 1.0 intergenic rs10147289 ADCK1 AU 0.665935 0.4762 Uncertain 14_78766814_A->G 14 78766814 78766814 A G snp 307.78 1/1 24 8 0 8 1.0 intergenic rs4903742 ADCK1 AU 0.747005 0.8403 Uncertain 14_78993170_A->C 14 78993170 78993170 A C snp 1241.77 0/1 99 102 53 49 0.48 intronic rs12882387 NRXN3 AU 0.215655 0.2103 Uncertain 14_79081400_T->C 14 79081400 79081400 T C snp 5165.77 1/1 99 200 1 199 0.99 intronic rs57416351 NRXN3 AU 0.148762 0.1845 0.0953 0.2222 Uncertain 14_79111432_C->A 14 79111432 79111432 C A snp 588.77 1/1 45 17 0 17 1.0 intronic rs2287495 NRXN3 AU 0.0471246 0.1845 0.009537 0.0550 0.2765 Uncertain 14_79176133_G->T 14 79176133 79176133 G T snp 120.77 0/1 66 6 2 4 0.67 intronic rs12147248 NRXN3 AU NM_004796 exon4 c.58431+135G>T 0.541534 0.7103 Uncertain 14_79181046_A->T 14 79181046 79181046 A T snp 1666.77 0/1 99 116 56 60 0.52 intronic rs1465481 NRXN3 AU NM_004796 exon5 c.63531-52A>T 0.951478 0.8571 Uncertain 14_79423452_G->A 14 79423452 79423452 G A snp 1920.77 1/1 99 61 2 59 0.97 intronic rs7157841 NRXN3 AU NM_004796 exon8 c.306017-132G>A 0.23103 0.4216 Uncertain 14_79423744_-->AT 14 79423744 79423744 - AT indel 2374.73 1/1 99 50 0 50 1.0 intronic rs1160978 NRXN3 AU NM_004796 exon8 c.306137+40insAT 0.392372 0.4454 0.304393 0.2286 0.4587 Uncertain 14_79433528_T->- 14 79433528 79433528 T - indel 469.73 0/1 57 41 8 33 0.8 intronic rs36125286 NRXN3 AU NM_004796 exon10 c.315983-22delT 0.309305 0.4187 0.2616 0.3638 Uncertain 14_79434693_C->A 14 79434693 79434693 C A snp 1311.77 1/1 93 49 0 49 1.0 splicing rs2270964 NRXN3 AU NM_004796 exon11 c.317122+4C>A 0.114417 0.3998 0.016761 0.0593 0.4092 Pathogenic 14_80290425_A->G 14 80290425 80290425 A G snp 550.77 1/1 42 17 0 17 1.0 intronic rs932265 NRXN3 AU NM_138970 exon5 c.524908+18883A>G 0.932109 1 Uncertain 14_80669580_T->C 14 80669580 80669580 T C snp 3725.77 1/1 99 127 0 127 1.0 exonic rs225014 DIO2 AU unknown 0.458067 0.4405 0.387678 0.4360 0.4577 0.8 T 0.0 P -0.927 T 0.0 T 0.0 T ID=CM021259;DIS=Insulin resistance, association with;TAG=DFP;PUB=11872697 DFP Uncertain 14_80669639_-->A 14 80669639 80669639 - A indel 181.73 0/1 85 42 8 34 0.81 intronic rs374218011 DIO2 AU NM_000793 exon1 c.600+8insA 0.402756 0.4435 0.2402 0.3794 Uncertain 14_80993330_-->A 14 80993330 80993330 - A indel 443.73 1/1 57 27 0 27 1.0 splicing rs34838656 CEP128 AU NM_152446 exon3 c.29505+4insA 0.53754 0.5883 0.5616 0.5643 Pathogenic 14_80993774_A->T 14 80993774 80993774 A T snp 44.74 1/1 6 2 0 2 1.0 intronic rs11159467 CEP128 AU NM_152446 exon3 c.29505+448A>T 0.358027 0.4524 Uncertain 14_81025417_T->C 14 81025417 81025417 T C snp 54.74 1/1 6 2 0 2 1.0 intronic rs2122425 CEP128 AU NM_152446 exon5 c.61801-205T>C 0.621206 0.7173 Uncertain 14_81025522_C->A 14 81025522 81025522 C A snp 2503.77 1/1 99 91 0 91 1.0 intronic rs1530771 CEP128 AU NM_152446 exon5 c.61801-100C>A 0.617212 0.7173 Uncertain 14_81046810_-->ACGAGTT 14 81046810 81046810 - ACGAGTT indel 4787.73 1/1 99 53 0 53 1.0 intronic rs397735485 CEP128 AU NM_152446 exon6 c.82946+43insACGAGTT 0.346645 0.5417 0.242165 0.2913 0.5030 Uncertain 14_81251255_T->C 14 81251255 81251255 T C snp 3067.77 0/1 99 250 134 116 0.46 exonic rs327463 CEP128 AU nonsynonymous SNV NM_152446 exon14 c.A2195G p.H732R 0.332268 0.1806 0.358066 0.3854 0.2206 0.49 T 1.0 P -0.913 T 0.996 D 0.89 D Pathogenic 14_81296323_T->C 14 81296323 81296323 T C snp 57.74 1/1 6 4 0 4 1.0 intronic rs10135084 CEP128 AU NM_152446 exon13 c.333665-1163T>C 0.610224 0.8115 Uncertain 14_81296718_C->T 14 81296718 81296718 C T snp 173.77 0/1 99 18 10 8 0.44 intronic rs66748940 CEP128 AU NM_152446 exon13 c.333665-768C>T 0.155551 0.4226 Uncertain 14_81296735_G->A 14 81296735 81296735 G A snp 109.77 0/1 99 12 7 5 0.42 intronic rs117488516 CEP128 AU NM_152446 exon13 c.333665-751G>A 0.00159744 0.0079 Uncertain 14_81297385_G->A 14 81297385 81297385 G A snp 207.77 0/1 99 15 8 7 0.47 intronic rs7156572 CEP128 AU NM_152446 exon13 c.333665-101G>A 0.610423 0.8115 0.5966 0.7864 Uncertain 14_81360958_C->T 14 81360958 81360958 C T snp 391.77 0/1 99 36 17 19 0.53 intronic rs2288347 CEP128 AU NM_152446 exon18 c.398240-1103C>T 0.469649 0.2252 0.519560 0.5590 0.3858 0 D 0.0 P -0.950 T Uncertain 14_81371088_A->G 14 81371088 81371088 A G snp 860.77 0/1 99 63 28 35 0.56 intronic rs8016507 CEP128 AU NM_152446 exon20 c.407335-68A>G 0.416134 0.2242 Uncertain 14_81422257_G->C 14 81422257 81422257 G C snp 1241.77 0/1 99 95 44 51 0.54 intronic rs2239610 TSHR AU,AD,AO,AR NM_000369 exon1 c.170+63G>C 0.195687 0.1994 Uncertain 14_81528412_T->A 14 81528412 81528412 T A snp 261.77 0/1 99 24 14 10 0.42 intronic rs17111401 TSHR AU,AD,AO,AR NM_000369 exon2 c.106467-79T>A 0.327676 0.1359 Uncertain 14_81557279_G->T 14 81557279 81557279 G T snp 56.74 1/1 6 2 0 2 1.0 intronic rs10147011 TSHR AU,AD,AO,AR NM_000369 exon5 c.135388-133G>T 0.286542 0.3026 Uncertain 14_81558806_C->T 14 81558806 81558806 C T snp 1309.77 0/1 99 113 61 52 0.46 intronic rs2075176 TSHR AU,AD,AO,AR NM_000369 exon6 c.136850-68C>T 0.29972 0.3046 Uncertain 14_81558965_A->G 14 81558965 81558965 A G snp 1499.77 0/1 99 142 80 62 0.44 intronic rs2241119 TSHR AU,AD,AO,AR NM_000369 exon6 c.136928+13A>G 0.29972 0.3046 0.268799 0.1887 0.3371 Uncertain 14_81562808_A->G 14 81562808 81562808 A G snp 457.77 0/1 99 20 6 14 0.7 intronic rs2075178 TSHR AU,AD,AO,AR NM_000369 exon7 c.140958-174A>G 0.30012 0.3036 Uncertain 14_81562998_T->C 14 81562998 81562998 T C snp 2780.77 0/1 99 227 110 117 0.52 exonic rs2075179 TSHR AU,AD,AO,AR synonymous SNV NM_000369 exon7 c.T561C p.N187N 0.30012 0.3036 0.269722 0.1913 0.3361 ID=COSM147826;OCCURENCE=1(large_intestine),1(stomach),1(thyroid) Uncertain 14_81610583_G->C 14 81610583 81610583 G C snp 6538.77 1/1 99 234 0 234 1.0 exonic rs1991517 TSHR AU,AD,AO,AR nonsynonymous SNV NM_000369 exon10 c.G2181C p.E727D 0.896765 0.8472 0.923343 0.9004 0.8252 0.67 T 0.0 P -0.975 T 0.0 T 0.0 T CLINSIG=untested;CLNDBN=not_specified;CLNREVSTAT=no_assertion_provided;CLNACC=RCV000122254.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 ID=CM994612;DIS=Toxic multinodular goitre, association with;TAG=DFP;PUB=10487707 DFP Pathogenic 14_81667852_A->T 14 81667852 81667852 A T snp 782.77 1/1 57 27 0 27 1.0 intronic rs8019633 GTF2A1 AU NM_015859 exon6 c.21371-85A>T 0.928714 0.8294 Uncertain 14_81676362_G->T 14 81676362 81676362 G T snp 62.77 0/1 91 59 54 5 0.08 intronic rs199721074 GTF2A1 AU NM_001278940 exon8 c.29714+82G>T Uncertain 14_81676402_T->G 14 81676402 81676402 T G snp 95.77 0/1 99 36 31 5 0.14 intronic GTF2A1 AU NM_001278940 exon8 c.29714+122T>G Uncertain 14_81686938_-->T 14 81686938 81686938 - T indel 546.73 0/1 99 32 15 17 0.53 UTR5 rs145594822 GTF2A1 AU 0.485823 0.4137 0.522716 Uncertain 14_81737076_A->C 14 81737076 81737076 A C snp 881.77 0/1 99 75 39 36 0.48 exonic rs2241621 STON2 AU nonsynonymous SNV NM_001256430 exon7 c.T2551G p.S851A 0.432907 0.378 0.488774 0.5224 0.3825 0.17 T 0.999 P -0.942 T 0.997 D 0.992 D ID=CM1111568;DIS=Schizophrenia, association with;TAG=DP;PUB=21407139 DP Pathogenic 14_81744736_A->G 14 81744736 81744736 A G snp 3343.77 1/1 99 110 0 110 1.0 exonic rs3813535 STON2 AU nonsynonymous SNV NM_001256430 exon6 c.T919C p.S307P 0.745008 0.5397 0.849608 0.8101 0.5598 1 T 0.001 P -0.960 T 0.0 T 0.0 T ID=CM1111569;DIS=Schizophrenia, association with;TAG=DP;PUB=21407139 DP Pathogenic 14_81745152_G->A 14 81745152 81745152 G A snp 112.77 0/1 99 9 4 5 0.56 intronic rs12887344 STON2 AU NM_033104 exon2 c.8175+69G>A 0.111621 0.1329 Uncertain 14_85995608_T->G 14 85995608 85995608 T G snp 589.77 0/1 99 45 20 25 0.56 upstream rs12590399 FLRT2 AU 0.574681 0.6815 Uncertain 14_85995614_G->A 14 85995614 85995614 G A snp 517.77 0/1 99 38 17 21 0.55 upstream rs12587861 FLRT2 AU 0.576877 0.6776 Uncertain 14_86088056_T->C 14 86088056 86088056 T C snp 5038.77 1/1 99 173 0 173 1.0 exonic rs10141266 FLRT2 AU synonymous SNV NM_013231 exon2 c.T198C p.T66T 0.994409 0.9722 0.9979 0.9720 Uncertain 14_88400087_C->T 14 88400087 88400087 C T snp 99.28 1/1 9 3 0 3 1.0 UTR3 rs370559 GALC AR 0.940895 0.9306 Uncertain 14_88400449_T->C 14 88400449 88400449 T C snp 502.77 1/1 39 15 0 15 1.0 UTR3 rs413750 GALC AR 0.940895 0.9306 Uncertain 14_88400486_A->G 14 88400486 88400486 A G snp 178.9 1/1 15 5 0 5 1.0 UTR3 rs1042029 GALC AR 0.493411 0.6994 Uncertain 14_88401213_T->C 14 88401213 88401213 T C snp 3855.77 1/1 99 129 0 129 1.0 exonic rs421262 GALC AR nonsynonymous SNV NM_000153 exon17 c.A1921G p.T641A 0.940695 0.9306 0.959477 0.9828 0.9375 0.81 T 0.0 P -0.952 T 0.0 T 0.0 T CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000078197.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 ID=CM950521;DIS=Krabbe disease;TAG=DM?;PUB=ABST DM? Pathogenic 14_88406120_C->T 14 88406120 88406120 C T snp 1748.77 1/1 99 65 0 65 1.0 intronic rs45626938 GALC AR NM_001201402 exon2 c.5173-128C>T 0.488818 0.6994 Uncertain 14_88406127_G->C 14 88406127 88406127 G C snp 2016.77 1/1 99 69 0 69 1.0 intronic rs45567441 GALC AR NM_001201402 exon2 c.5173-121G>C 0.488818 0.6994 Uncertain 14_88406404_T->C 14 88406404 88406404 T C snp 500.77 1/1 39 18 0 18 1.0 intronic rs417276 GALC AR NM_001201402 exon2 c.5250+79T>C 0.940895 0.9306 Uncertain 14_88407716_-->A 14 88407716 88407716 - A indel 605.73 1/1 50 31 2 29 0.94 intronic rs34752717 GALC AR NM_001201402 exon3 c.6663-22insA 0.378549 0.4276 0.4968 Uncertain 14_88407734_G->C 14 88407734 88407734 G C snp 1770.77 1/1 99 58 0 58 1.0 splicing rs448805 GALC AR NM_001201402 exon3 c.6663-4G>C 0.940895 0.9306 0.959639 0.9830 0.9378 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000078196.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 14_88407875_T->A 14 88407875 88407875 T A snp 3909.77 1/1 99 151 0 151 1.0 exonic rs421466 GALC AR synonymous SNV NM_000153 exon15 c.A1698T p.V566V 0.940895 0.9306 0.960253 0.9828 0.9374 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000078195.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 14_88407917_G->A 14 88407917 88407917 G A snp 2376.77 1/1 99 85 0 85 1.0 intronic rs12432149 GALC AR NM_001201402 exon3 c.6827+15G>A 0.488818 0.6994 0.431217 0.5413 0.7554 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000078193.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 14_88411803_T->C 14 88411803 88411803 T C snp 1367.77 1/1 99 46 0 46 1.0 intronic rs444902 GALC AR NM_001201402 exon4 c.10821-93T>C 0.940895 0.9306 Uncertain 14_88411947_T->C 14 88411947 88411947 T C snp 3191.82 1/1 99 116 0 116 1.0 exonic rs367327 GALC AR synonymous SNV NM_000153 exon14 c.A1620G p.T540T 0.942692 0.9315 0.960838 0.9832 0.9376 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000153295.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 14_88414283_G->A 14 88414283 88414283 G A snp 1717.77 1/1 99 61 0 61 1.0 intronic rs398343 GALC AR NM_001201402 exon5 c.13147+61G>A 0.940895 0.9306 Uncertain 14_88416390_A->G 14 88416390 88416390 A G snp 688.77 1/1 51 24 0 24 1.0 intronic rs440426 GALC AR NM_001201402 exon6 c.15200+115A>G 0.956669 1 Uncertain 14_88416441_C->T 14 88416441 88416441 C T snp 190.9 1/1 15 9 0 9 1.0 intronic rs451073 GALC AR NM_001201402 exon6 c.15200+166C>T 0.956669 1 Uncertain 14_88417096_A->- 14 88417096 88417096 A - indel 1275.73 1/1 99 46 0 46 1.0 splicing rs11300320 GALC AR NM_001201402 exon7 c.16017+4delA 0.948283 0.995 0.9775 0.9924 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000078190.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 14_88417161_C->T 14 88417161 88417161 C T snp 912.77 1/1 66 33 0 33 1.0 intronic rs431748 GALC AR NM_001201402 exon7 c.16017+69C>T 0.956669 1 Uncertain 14_88417244_C->T 14 88417244 88417244 C T snp 174.9 1/1 15 5 0 5 1.0 intronic rs443019 GALC AR NM_001201402 exon7 c.16017+152C>T 0.956669 1 Uncertain 14_88431898_C->T 14 88431898 88431898 C T snp 3501.77 1/1 99 127 0 127 1.0 exonic rs12888666 GALC AR synonymous SNV NM_000153 exon9 c.G984A p.Q328Q 0.33107 0.5327 0.275251 0.3813 0.5917 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000078210.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 14_88431969_T->C 14 88431969 88431969 T C snp 978.77 0/1 99 112 67 45 0.4 exonic rs74887188 GALC AR nonsynonymous SNV NM_000153 exon9 c.A913G p.I305V 0.0181709 0.0883 0.000587 0.0080 0.0985 0.15 T 1 D -0.644 T 0.999 D 0.983 D ID=CM973399;DIS=Krabbe disease, association with;TAG=DFP;PUB=9272171 DFP Pathogenic 14_88453186_A->G 14 88453186 88453186 A G snp 825.77 1/1 63 26 0 26 1.0 intronic rs2165567 GALC AR NM_001201402 exon14 c.51871+240A>G 0.332668 0.5347 Uncertain 14_88453278_T->G 14 88453278 88453278 T G snp 2468.77 1/1 99 98 0 98 1.0 intronic rs2119702 GALC AR NM_001201402 exon14 c.51871+332T>G 0.31869 0.5347 Uncertain 14_88453424_G->A 14 88453424 88453424 G A snp 1726.77 1/1 89 64 1 63 0.98 intronic rs2119703 GALC AR NM_001201402 exon14 c.51871+478G>A 0.816294 0.9762 0.7573 0.9590 Uncertain 14_88454691_C->T 14 88454691 88454691 C T snp 433.77 1/1 33 15 0 15 1.0 intronic rs2245387 GALC AR NM_001201402 exon16 c.53723-107C>T 0.334265 0.5337 Uncertain 14_88454910_G->A 14 88454910 88454910 G A snp 935.77 1/1 69 34 0 34 1.0 intronic rs2289511 GALC AR NM_001201402 exon16 c.53792+43G>A 0.619209 0.7728 0.580694 0.6164 0.8195 Uncertain 14_88477413_C->T 14 88477413 88477413 C T snp 7929.77 1/1 99 250 1 249 1.0 exonic rs6574978 GPR65 AU synonymous SNV NM_003608 exon2 c.C222T p.T74T 0.820487 0.9831 0.703906 0.7460 0.9795 Uncertain 14_88651826_-->AC 14 88651826 88651826 - AC indel 3021.73 0/1 32 89 7 82 0.92 UTR3 rs144490234 KCNK10 AU 0.388578 0.4464 Uncertain 14_88652389_C->T 14 88652389 88652389 C T snp 1202.77 0/1 99 89 41 48 0.54 exonic rs3742692 KCNK10 AU synonymous SNV NM_021161 exon7 c.G1107A p.A369A 0.217851 0.3681 0.206636 0.2563 0.3875 Uncertain 14_88654235_A->G 14 88654235 88654235 A G snp 421.77 0/1 99 21 6 15 0.71 intronic rs424752 KCNK10 AU NM_021161 exon2 c.2432-75A>G 0.294928 0.5149 Uncertain 14_88658559_G->T 14 88658559 88658559 G T snp 307.77 0/1 99 18 6 12 0.67 intronic rs2277525 KCNK10 AU NM_021161 exon3 c.6689-8G>T 0.225439 0.3919 0.186452 0.2176 0.4203 Uncertain 14_88693676_C->T 14 88693676 88693676 C T snp 1406.77 0/1 99 142 82 60 0.42 intronic rs3825678 KCNK10 AU NM_021161 exon4 c.41840-42C>T 0.328874 0.4405 0.279333 0.2687 0.4629 Uncertain 14_88693683_A->G 14 88693683 88693683 A G snp 1469.77 0/1 99 152 86 66 0.43 intronic rs3825677 KCNK10 AU NM_021161 exon4 c.41840-35A>G 0.348442 0.4474 0.306089 0.2854 0.4706 Uncertain 14_88693725_G->C 14 88693725 88693725 G C snp 1999.77 0/1 99 220 126 94 0.43 exonic rs2277524 KCNK10 AU synonymous SNV NM_021161 exon4 c.C660G p.V220V 0.342053 0.4405 0.294633 0.2773 0.4665 Uncertain 14_88729931_G->T 14 88729931 88729931 G T snp 663.77 1/1 48 26 0 26 1.0 intronic rs761971 KCNK10 AU NM_021161 exon6 c.78017+36G>T 0.659744 0.6855 0.639180 0.6745 0.6906 Uncertain 14_88737193_T->C 14 88737193 88737193 T C snp 4577.77 1/1 99 167 1 166 0.99 UTR5 rs1298237 KCNK10 AU 0.751797 0.9236 0.634910 Uncertain 14_88792816_T->G 14 88792816 88792816 T G snp 1860.77 1/1 99 68 0 68 1.0 UTR5 rs3742690 KCNK10 AU 0.875998 0.7867 0.934722 0.9357 0.7431 Uncertain 14_88852031_A->G 14 88852031 88852031 A G snp 922.77 1/1 69 28 0 28 1.0 UTR5 rs709886 SPATA7 AU 0.965056 1 Uncertain 14_88852280_G->- 14 88852280 88852280 G - indel 903.73 1/1 72 29 0 29 1.0 intronic rs398026068 SPATA7 AU NM_018418 exon1 c.19+99delG 1 1 1 1 Uncertain 14_88895669_T->G 14 88895669 88895669 T G snp 1636.77 1/1 99 55 0 55 1.0 intronic rs386579 SPATA7 AU NM_018418 exon8 c.43529-22T>G 0.999002 1 0.999385 0.9999 1 Uncertain 14_88897312_A->G 14 88897312 88897312 A G snp 48.74 1/1 6 2 0 2 1.0 intronic rs530887018 SPATA7 AU NM_018418 exon9 c.45353-203A>G 0.000199681 0.001 Uncertain 14_88934702_G->A 14 88934702 88934702 G A snp 130.03 1/1 12 4 0 4 1.0 intronic rs2295136 PTPN21 AU NM_007039 exon1 c.129+93G>A 0.271965 0.1806 Uncertain 14_88967336_C->A 14 88967336 88967336 C A snp 1974.77 1/1 99 62 0 62 1.0 intronic rs816069 PTPN21 AU NM_007039 exon12 c.32735+121C>A 0.466454 0.5387 Uncertain 14_88983673_C->A 14 88983673 88983673 C A snp 1403.77 1/1 99 41 0 41 1.0 intronic rs4904452 PTPN21 AU NM_007039 exon17 c.49125+68C>A 0.455272 0.5298 Uncertain 14_89037482_-->AT 14 89037482 89037482 - AT indel 678.73 0/1 99 39 22 17 0.44 intronic rs10682918 ZC3H14 AU NM_207661 exon4 c.3063+14insAT 0.51238 0.4335 0.5929 0.3619 Uncertain 14_89042180_T->G 14 89042180 89042180 T G snp 475.77 0/1 99 54 32 22 0.41 splicing rs1469602 ZC3H14 AU NM_207661 exon8 c.7778-3T>G 0.485823 0.4177 0.592496 0.6188 0.3436 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000118883.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 14_89063167_A->G 14 89063167 89063167 A G snp 7561.77 1/1 99 250 1 249 1.0 intronic rs2297124 ZC3H14 AU NM_207661 exon10 c.28747+15A>G 0.838536 0.8650 0.9235 Uncertain 14_89077043_G->T 14 89077043 89077043 G T snp 179.77 0/1 99 12 5 7 0.58 intronic rs4899956 ZC3H14 AU NM_207661 exon14 c.42772-134G>T 0.248802 0.4494 Uncertain 14_89082289_A->G 14 89082289 89082289 A G snp 116.77 0/1 99 9 5 4 0.44 intronic rs12885870 EML5 AU NM_183387 exon1 c.37+91A>G 0.251997 0.4504 Uncertain 14_89082396_-->T 14 89082396 89082396 - T indel 573.73 0/1 99 46 27 19 0.41 intronic rs397770215 EML5 AU NM_183387 exon2 c.324-89insT 0.257987 0.3998 Uncertain 14_89084854_G->A 14 89084854 89084854 G A snp 332.77 0/1 99 17 5 12 0.71 intronic rs28489684 EML5 AU NM_183387 exon5 c.2832-139G>A 0.249201 0.4494 Uncertain 14_89088266_C->T 14 89088266 89088266 C T snp 1642.77 0/1 99 162 86 76 0.47 intronic rs4635267 EML5 AU NM_183387 exon7 c.5484+621C>T 0.255192 0.3968 0.2377 0.4082 Uncertain 14_89088357_G->A 14 89088357 89088357 G A snp 1910.77 0/1 99 218 127 91 0.42 intronic rs56144430 EML5 AU NM_183387 exon8 c.6786-590G>A 0.255791 0.3998 Uncertain 14_89088388_G->C 14 89088388 89088388 G C snp 4651.77 1/1 99 187 1 186 0.99 intronic rs2983488 EML5 AU NM_183387 exon8 c.6786-559G>C 1 1 Uncertain 14_89089149_-->T 14 89089149 89089149 - T indel 130.8 1/1 18 10 0 10 1.0 intronic rs11382327 EML5 AU NM_183387 exon8 c.6901+87insT 0.886981 0.9117 Uncertain 14_89091202_-->GAA 14 89091202 89091202 - GAA indel 355.73 0/1 99 25 17 8 0.32 intronic rs149369776 EML5 AU NM_183387 exon9 c.9152-111insGAA 0.2502 0.4514 Uncertain 14_89094243_G->C 14 89094243 89094243 G C snp 1004.77 1/1 75 29 0 29 1.0 intronic rs1144916 EML5 AU NM_183387 exon11 c.12002+80G>C 0.818291 0.9236 0.8203 0.9310 Uncertain 14_89105287_T->A 14 89105287 89105287 T A snp 380.77 0/1 99 24 9 15 0.63 intronic rs1152383 EML5 AU NM_183387 exon13 c.23090+36T>A 0.500799 0.4633 0.612066 0.6373 0.4883 Uncertain 14_89124421_ACC->- 14 89124421 89124423 ACC - indel 287.73 0/1 99 13 7 6 0.46 intronic rs10535846 EML5 AU NM_183387 exon18 c.42369-109_42369-107delACC 0.501597 0.5308 Uncertain 14_89129304_G->C 14 89129304 89129304 G C snp 1065.77 0/1 99 75 32 43 0.57 intronic rs17260373 EML5 AU NM_183387 exon20 c.47213-70G>C 0.251997 0.4554 Uncertain 14_89148486_C->T 14 89148486 89148486 C T snp 60.77 0/1 89 10 7 3 0.3 intronic rs17260380 EML5 AU NM_183387 exon23 c.66214+111C>T 0.257188 0.3909 Uncertain 14_89162978_A->G 14 89162978 89162978 A G snp 96.28 1/1 9 3 0 3 1.0 intronic rs7146508 EML5 AU NM_183387 exon29 c.81029-212A>G 0.758586 0.9325 Uncertain 14_89202569_C->T 14 89202569 89202569 C T snp 427.77 1/1 33 11 0 11 1.0 intronic rs8003018 EML5 AU NM_183387 exon37 c.120546-138C>T 0.758387 0.9325 Uncertain 14_89205265_T->C 14 89205265 89205265 T C snp 908.77 0/1 99 83 42 41 0.49 exonic rs17188228 EML5 AU nonsynonymous SNV NM_183387 exon6 c.A805G p.I269V 0.246006 0.3909 0.227745 0.3480 0.4755 0.57 T 1.000 P -0.635 T 0.989 D 0.841 D Pathogenic 14_89258613_C->T 14 89258613 89258613 C T snp 425.77 0/1 99 25 9 16 0.64 intronic rs77336257 EML5 AU NM_183387 exon43 c.176489-37C>T 0.154553 0.253 0.056557 0.1114 0.3522 Uncertain 14_89258877_G->A 14 89258877 89258877 G A snp 522.77 1/1 39 18 0 18 1.0 UTR5 rs61982739 EML5 AU 0.466653 0.6111 0.5451 0.7593 Uncertain 14_89307320_T->C 14 89307320 89307320 T C snp 1817.77 0/1 99 128 52 76 0.59 intronic rs17700296 TTC8 AR NM_198310 exon4 c.16221+48T>C 0.188698 0.3304 0.198293 0.2115 0.3086 Uncertain 14_89319475_G->C 14 89319475 89319475 G C snp 523.77 0/1 99 56 34 22 0.39 intronic rs74075891 TTC8 AR NM_001288782 exon7 c.11529+75G>C 0.17512 0.1042 Uncertain 14_89341294_AA->- 14 89341294 89341295 AA - indel 491.73 0/1 99 41 25 16 0.39 intronic rs10607562 TTC8 AR NM_001288782 exon13 c.33498-75_33498-74delAA 0.17512 0.1042 Uncertain 14_89647259_-->GCAGAGAACATGCATGGA 14 89647259 89647259 - GCAGAGAACATGCATGGA indel 13049.7 1/1 99 81 0 81 1.0 intronic rs140257053 FOXN3 AU NM_001085471 exon2 c.18393+109insGCAGAGAACATGCATGGA 0.761581 0.5893 Uncertain 14_89647297_-->AC 14 89647297 89647297 - AC indel 562.73 1/1 42 24 0 24 1.0 intronic rs10692634 FOXN3 AU NM_001085471 exon2 c.18393+147insAC 0.65595 0.496 Uncertain 14_89747473_T->C 14 89747473 89747473 T C snp 494.77 0/1 99 55 35 20 0.36 intronic rs7147341 FOXN3 AU NM_001085471 exon4 c.118601+115T>C 0.898562 0.9821 Uncertain 14_89867978_T->C 14 89867978 89867978 T C snp 7147.77 1/1 99 250 0 250 1.0 intronic rs12147030 FOXN3 AU NM_001085471 exon6 c.249520-10299T>C 0.928714 0.999 0.9756 1 0.0 P -1.087 T Uncertain 14_89884022_A->C 14 89884022 89884022 A C snp 1300.77 1/1 93 44 0 44 1.0 ncRNA_exonic rs7422 FOXN3-AS1 AU 0.297125 0.2163 0.3551 0.1515 0.980 P -0.928 T Uncertain 14_90095445_T->C 14 90095445 90095445 T C snp 3623.77 1/1 99 137 0 137 1.0 intergenic rs100016 FOXN3 AU 0.263379 0.4643 0.3168 0.5075 Uncertain 14_90303065_T->C 14 90303065 90303065 T C snp 1221.77 1/1 90 36 0 36 1.0 intronic rs8021113 EFCAB11 AU NM_001284267 exon1 c.82+39397T>C 0.584065 0.5397 Uncertain 14_90303113_A->T 14 90303113 90303113 A T snp 258.8 1/1 21 7 0 7 1.0 intronic rs8019848 EFCAB11 AU NM_001284267 exon1 c.82+39445A>T 0.591653 0.5397 Uncertain 14_90303276_T->C 14 90303276 90303276 T C snp 90.28 1/1 9 3 0 3 1.0 intronic rs11159936 EFCAB11 AU NM_001284267 exon1 c.82+39608T>C 0.511382 0.498 Uncertain 14_90303383_A->C 14 90303383 90303383 A C snp 538.77 ./1 99 21 0 21 1.0 intronic rs8020323 EFCAB11 AU NM_001284267 exon1 c.82+39715A>C 6.116e-05 0 0 D 0.0 P -0.928 T Uncertain 14_90303383_A->G 14 90303383 90303383 A G snp 538.77 ./1 99 21 0 21 1.0 intronic rs8020323 EFCAB11 AU NM_001284267 exon1 c.82+39715A>G 0.591454 0.5397 0.6643 0.5861 0 D 0.0 P -1.022 T Uncertain 14_90303435_T->A 14 90303435 90303435 T A snp 752.77 1/1 54 28 0 28 1.0 intronic rs12437204 EFCAB11 AU NM_001284267 exon1 c.82+39767T>A 0.591653 0.5397 0.6625 0.5812 0.01 T 0.0 P -1.009 T Uncertain 14_90303445_T->C 14 90303445 90303445 T C snp 785.77 1/1 57 28 0 28 1.0 intronic rs12437206 EFCAB11 AU NM_001284267 exon1 c.82+39777T>C 0.591653 0.5397 0.6609 0.5819 0.01 T 0.0 P -1.055 T Uncertain 14_90451303_A->G 14 90451303 90451303 A G snp 93.28 1/1 9 3 0 3 1.0 intronic rs1296406 TDP1 AU NM_018319 exon10 c.22017-172A>G 0.998802 1 Uncertain 14_90651357_G->A 14 90651357 90651357 G A snp 2169.77 1/1 99 74 0 74 1.0 UTR3 rs12147332 KCNK13 AU 0.265974 0.5387 0.215190 0.3269 0.5756 Uncertain 14_90722778_G->A 14 90722778 90722778 G A snp 113.77 0/1 99 7 3 4 0.57 upstream rs2277517 PSMC1 AU 0.526158 0.4841 Uncertain 14_90722824_G->C 14 90722824 90722824 G C snp 248.77 0/1 99 16 8 8 0.5 upstream rs2277516 PSMC1 AU 0.525958 0.4841 Uncertain 14_90723000_A->G 14 90723000 90723000 A G snp 918.77 0/1 99 74 35 39 0.53 intronic rs2277515 PSMC1 AU NM_002802 exon1 c.3+56A>G 0.525759 0.4821 0.550810 Uncertain 14_90723059_T->C 14 90723059 90723059 T C snp 543.77 0/1 99 39 17 22 0.56 intronic rs2277514 PSMC1 AU NM_002802 exon1 c.3+115T>C 0.525958 0.4821 Uncertain 14_90723109_T->G 14 90723109 90723109 T G snp 499.77 1/1 39 15 0 15 1.0 intronic rs6575119 PSMC1 AU NM_002802 exon1 c.3+165T>G 0.9998 1 Uncertain 14_90726676_G->A 14 90726676 90726676 G A snp 1544.77 0/1 99 132 65 67 0.51 intronic rs11844225 PSMC1 AU NM_002802 exon3 c.3614+121G>A 0.525359 0.4812 Uncertain 14_90729931_T->C 14 90729931 90729931 T C snp 382.77 0/1 99 33 16 17 0.52 intronic rs8022531 PSMC1 AU NM_002802 exon5 c.7064-74T>C 0.52516 0.4812 Uncertain 14_90729984_C->T 14 90729984 90729984 C T snp 192.77 0/1 99 13 6 7 0.54 intronic rs8015510 PSMC1 AU NM_002802 exon5 c.7064-21C>T 0.52516 0.4812 0.529851 0.5882 0.4756 Uncertain 14_90730071_C->T 14 90730071 90730071 C T snp 323.77 0/1 99 34 21 13 0.38 exonic rs4811 PSMC1 AU synonymous SNV NM_002802 exon5 c.C345T p.I115I 0.52476 0.4812 0.538077 0.5881 0.4755 Uncertain 14_90730265_G->A 14 90730265 90730265 G A snp 615.77 0/1 99 55 25 30 0.55 intronic rs2282030 PSMC1 AU NM_002802 exon5 c.7250+74G>A 0.52476 0.4812 Uncertain 14_90731688_A->- 14 90731688 90731688 A - indel 102.73 0/1 31 23 4 19 0.83 intronic rs34260220 PSMC1 AU NM_002802 exon7 c.8569+178delA Uncertain 14_90734826_A->G 14 90734826 90734826 A G snp 891.77 0/1 99 81 45 36 0.44 intronic rs11624246 PSMC1 AU NM_002802 exon8 c.11816+69A>G 0.323482 0.5099 Uncertain 14_90736056_AG->- 14 90736056 90736057 AG - indel 162.73 0/1 99 14 8 6 0.43 intronic rs10599013 PSMC1 AU NM_002802 exon9 c.12951+164_12951+165delAG 0.167133 0.2133 Uncertain 14_90740012_C->T 14 90740012 90740012 C T snp 74.77 0/1 99 8 4 4 0.5 intergenic rs11159960 PSMC1 AU 0.323283 0.5099 Uncertain 14_90740274_T->C 14 90740274 90740274 T C snp 3093.77 0/1 99 248 120 128 0.52 intergenic rs6575121 PSMC1 AU 0.198882 0.2143 Uncertain 14_90740325_TCT->- 14 90740325 90740327 TCT - indel 5157.73 0/1 99 238 120 118 0.5 intergenic rs34512486 PSMC1 AU 0.345248 0.5089 Uncertain 14_90740588_G->C 14 90740588 90740588 G C snp 1298.77 0/1 99 103 52 51 0.5 intergenic rs10140761 PSMC1 AU 0.504193 0.5873 Uncertain 14_90744672_G->A 14 90744672 90744672 G A snp 1389.77 0/1 99 99 46 53 0.54 UTR3 rs10184 NRDE2 AU 0.319888 0.504 0.304321 0.3645 0.5187 Uncertain 14_90745422_T->C 14 90745422 90745422 T C snp 2740.77 0/1 99 217 97 120 0.55 exonic rs3737035 NRDE2 AU nonsynonymous SNV NM_017970 exon13 c.A3353G p.N1118S 0.324281 0.5099 0.312779 0.3693 0.5222 0.81 T 0.000 P -0.964 T 0.004 T 0.004 T Pathogenic 14_90752846_A->- 14 90752846 90752846 A - indel 717.73 0/1 99 62 36 26 0.42 intronic rs113463686 NRDE2 AU NM_017970 exon3 c.8157+10delA 0.169329 0.2133 0.130751 0.1231 0.2152 Uncertain 14_90752908_G->T 14 90752908 90752908 G T snp 149.77 0/1 99 14 8 6 0.43 intronic rs7160304 NRDE2 AU NM_017970 exon3 c.8157+72G>T 0.558307 0.4891 Uncertain 14_90767607_C->T 14 90767607 90767607 C T snp 3323.77 1/1 99 118 0 118 1.0 exonic rs3825661 NRDE2 AU synonymous SNV NM_017970 exon7 c.G1521A p.V507V 0.676318 0.7976 0.663232 0.6969 0.8114 Uncertain 14_90767746_C->A 14 90767746 90767746 C A snp 2668.77 1/1 99 92 0 92 1.0 intronic rs3742669 NRDE2 AU NM_017970 exon8 c.23037+30C>A 0.682708 0.7976 0.669409 0.6967 0.8084 Uncertain 14_90767759_G->A 14 90767759 90767759 G A snp 969.77 0/1 99 77 42 35 0.45 intronic rs3742668 NRDE2 AU NM_017970 exon8 c.23037+43G>A 0.345248 0.5069 0.336179 0.3745 0.5191 Uncertain 14_90767856_T->C 14 90767856 90767856 T C snp 258.77 0/1 99 21 11 10 0.48 intronic rs3742667 NRDE2 AU NM_017970 exon8 c.23037+140T>C 0.321885 0.5069 Uncertain 14_90767860_T->C 14 90767860 90767860 T C snp 298.77 0/1 99 21 10 11 0.52 intronic rs3742666 NRDE2 AU NM_017970 exon8 c.23037+144T>C 0.303514 0.2927 Uncertain 14_90768183_C->T 14 90768183 90768183 C T snp 2729.77 0/1 99 243 125 118 0.49 intronic rs8020828 NRDE2 AU NM_017970 exon8 c.23037+467C>T 0.291134 0.2907 0.3596 0.2955 Uncertain 14_90769539_C->T 14 90769539 90769539 C T snp 1192.77 0/1 99 126 68 58 0.46 intronic rs2149647 NRDE2 AU NM_017970 exon9 c.24790+70C>T 0.323482 0.5079 Uncertain 14_90769635_T->G 14 90769635 90769635 T G snp 367.77 0/1 99 22 8 14 0.64 intronic rs2282033 NRDE2 AU NM_017970 exon9 c.24790+166T>G 0.291534 0.2907 Uncertain 14_90770210_C->G 14 90770210 90770210 C G snp 499.77 1/1 39 13 0 13 1.0 intronic rs4904670 NRDE2 AU NM_017970 exon10 c.25599-68C>G 0.95607 1 Uncertain 14_90863489_G->A 14 90863489 90863489 G A snp 2080.77 1/1 99 67 0 67 1.0 UTR5 rs12886342 CALM1 AD 0.716054 0.8046 0.789220 Uncertain 14_90865283_T->C 14 90865283 90865283 T C snp 1300.77 1/1 96 40 0 40 1.0 intronic rs2300497 CALM1 AD NM_006888 exon2 c.2834-1125T>C 0.722045 0.8085 Uncertain 14_90865462_C->G 14 90865462 90865462 C G snp 2267.77 1/1 99 75 0 75 1.0 intronic rs2300498 CALM1 AD NM_006888 exon2 c.2834-946C>G 0.802915 0.8085 0.8191 0.7828 Uncertain 14_90865548_C->G 14 90865548 90865548 C G snp 641.77 1/1 48 20 0 20 1.0 intronic rs2300499 CALM1 AD NM_006888 exon2 c.2834-860C>G 0.179513 0.5804 Uncertain 14_90866346_C->T 14 90866346 90866346 C T snp 1339.77 1/1 96 46 0 46 1.0 intronic rs2268433 CALM1 AD NM_006888 exon2 c.2834-62C>T 0.484425 0.7748 0.502190 Uncertain 14_91007618_T->C 14 91007618 91007618 T C snp 958.77 1/1 69 35 0 35 1.0 UTR3 rs1294572 TTC7B AU 0.982428 0.999 0.9580 1 Uncertain 14_91044706_C->T 14 91044706 91044706 C T snp 608.77 0/1 99 50 26 24 0.48 intronic rs189049216 TTC7B AU NM_001010854 exon2 c.36941+54C>T 0.000199681 Uncertain 14_91077279_C->- 14 91077279 91077279 C - indel 797.73 0/1 99 40 17 23 0.57 intronic rs3215800 TTC7B AU NM_001010854 exon4 c.69472+96delC 0.109824 0.123 Uncertain 14_91084338_C->T 14 91084338 91084338 C T snp 1919.77 1/1 99 71 0 71 1.0 exonic rs754247 TTC7B AU synonymous SNV NM_001010854 exon16 c.G1803A p.E601E 0.466054 0.4157 0.398585 0.3369 0.4593 Uncertain 14_91110583_ACATAC->- 14 91110583 91110588 ACATAC - indel 376.73 0/1 99 15 6 9 0.6 ncRNA_intronic rs10577878 LOC101928909 AU 0.624601 0.8026 0.537268 0.5762 0.7961 Uncertain 14_91113471_G->A 14 91113471 91113471 G A snp 845.77 0/1 99 56 23 33 0.59 ncRNA_intronic rs2277512 LOC101928909 AU 0.602236 0.8075 Uncertain 14_91113537_A->G 14 91113537 91113537 A G snp 475.77 1/1 36 15 0 15 1.0 ncRNA_intronic rs1286422 LOC101928909 AU 0.874601 0.871 Uncertain 14_91121273_G->A 14 91121273 91121273 G A snp 2352.77 1/1 99 84 0 84 1.0 intronic rs3742661 TTC7B AU NM_001010854 exon9 c.113625-63G>A 0.235224 0.503 Uncertain 14_91123575_T->C 14 91123575 91123575 T C snp 4423.77 1/1 99 165 0 165 1.0 exonic rs3742660 TTC7B AU synonymous SNV NM_001010854 exon11 c.A1284G p.P428P 0.891773 0.9812 0.861756 0.8873 0.9856 1.000 P -1.066 T Likely benign 14_91142779_C->T 14 91142779 91142779 C T snp 844.77 1/1 63 23 0 23 1.0 intronic rs1077697 TTC7B AU NM_001010854 exon12 c.135155-87C>T 0.289337 0.5268 Uncertain 14_91156151_G->A 14 91156151 91156151 G A snp 1047.77 1/1 78 33 0 33 1.0 intronic rs942738 TTC7B AU NM_001010854 exon14 c.148345+95G>A 0.623203 0.6895 Uncertain 14_91161862_C->T 14 91161862 91161862 C T snp 4117.77 1/1 99 163 0 163 1.0 exonic rs10146731 TTC7B AU synonymous SNV NM_001010854 exon6 c.G759A p.T253T 0.619409 0.6885 0.606659 0.6510 0.6833 Uncertain 14_91162063_C->T 14 91162063 91162063 C T snp 224.84 1/1 18 6 0 6 1.0 intronic rs12893100 TTC7B AU NM_001010854 exon15 c.154211+141C>T 0.289936 0.5317 Uncertain 14_91165572_G->A 14 91165572 91165572 G A snp 4823.77 1/1 99 184 0 184 1.0 intronic rs1749699 TTC7B AU NM_001010854 exon15 c.154211+3650G>A 0.894768 0.999 0.9147 1 Uncertain 14_91165606_G->A 14 91165606 91165606 G A snp 4163.77 1/1 99 150 1 149 0.99 intronic rs1742100 TTC7B AU NM_001010854 exon15 c.154211+3684G>A 0.746805 0.9435 0.7209 0.9091 Uncertain 14_91196317_T->C 14 91196317 91196317 T C snp 99.28 1/1 9 3 0 3 1.0 intronic rs10135495 TTC7B AU NM_001010854 exon16 c.188707-101T>C 0.277556 0.3671 Uncertain 14_91365646_-->A 14 91365646 91365646 - A indel 280.73 0/1 99 74 28 46 0.62 intronic rs398026148 RPS6KA5 AU NM_004755 exon6 c.27255-26insA 0.329273 0.3423 0.1037 0.0808 Uncertain 14_91372685_C->A 14 91372685 91372685 C A snp 58.77 0/1 87 22 17 5 0.23 intronic RPS6KA5 AU NM_004755 exon10 c.34226+42C>A 0.0138 0.0218 Uncertain 14_91592748_-->TTCTT 14 91592748 91592748 - TTCTT indel 3224.61 1/1 99 42 0 42 1.0 intronic rs397817202 C14orf159 AU 0.928914 1 Uncertain 14_91636395_C->T 14 91636395 91636395 C T snp 413.77 0/1 99 34 19 15 0.44 exonic rs4900071 C14orf159 AU synonymous SNV NM_001102368 exon5 c.C306T p.G102G 0.167133 0.0585 0.277410 0.2756 0.0607 Uncertain 14_91636532_C->T 14 91636532 91636532 C T snp 464.77 0/1 99 50 31 19 0.38 exonic;splicing rs4900072 C14orf159;C14orf159 UN nonsynonymous SNV NM_001102368 exon5 c.C443T p.A148V 0.167133 0.0585 0.277410 0.2770 0.0611 1 T 0.0 P -1.085 T 0.443 T 0.23 T Pathogenic 14_91642234_A->G 14 91642234 91642234 A G snp 3091.77 0/1 99 250 117 133 0.53 intronic rs2295528 C14orf159 AU NM_001102369 exon9 c.15639-43A>G 0.449481 0.7242 0.379671 0.4991 0.7761 Uncertain 14_91662663_A->G 14 91662663 91662663 A G snp 1139.77 0/1 99 116 66 50 0.43 intronic rs2295526 C14orf159 AU NM_001102369 exon12 c.36080-55A>G 0.0998403 0.0565 Uncertain 14_91666018_G->A 14 91666018 91666018 G A snp 62.77 0/1 91 13 9 4 0.31 intronic rs12886645 C14orf159 AU NM_001102369 exon13 c.39462-82G>A 0.464058 0.6637 Uncertain 14_91681623_C->T 14 91681623 91681623 C T snp 110.77 0/1 99 9 5 4 0.44 intronic rs11622036 C14orf159 AU NM_001102369 exon14 c.55110-125C>T 0.545327 0.3333 Uncertain 14_91681888_G->A 14 91681888 91681888 G A snp 2577.77 0/1 99 247 129 118 0.48 exonic rs34424078 C14orf159 AU synonymous SNV NM_001102368 exon13 c.G1704A p.P568P 0.0824681 0.0516 0.065431 0.0922 0.0569 0.947 N -1.060 T Likely benign 14_91792208_C->T 14 91792208 91792208 C T snp 342.77 0/1 99 22 9 13 0.59 intronic rs548205774 CCDC88C AR,AD NM_001080414 exon20 c.53285-45C>T 0.000599042 0.003 4.795e-05 0 Uncertain 14_91874956_T->C 14 91874956 91874956 T C snp 2018.77 0/1 99 147 69 78 0.53 intronic rs2295882 CCDC88C AR,AD NM_001080414 exon28 c.136034-46T>C 0.10623 0.0238 0.183199 0.1809 0.0301 Uncertain 14_91883129_G->A 14 91883129 91883129 G A snp 1867.77 0/1 99 213 127 86 0.4 exonic rs45437097 CCDC88C AR,AD synonymous SNV NM_001080414 exon2 c.C114T p.Y38Y 0.107827 0.0228 0.185073 0.1807 0.0293 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000145419.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 14_91883267_A->C 14 91883267 91883267 A C snp 972.77 1/1 72 27 0 27 1.0 intronic rs1285844 CCDC88C AR,AD NM_001080414 exon29 c.144214+85A>C 0.919129 0.9841 Uncertain 14_91883364_C->A 14 91883364 91883364 C A snp 462.77 0/1 99 50 29 21 0.42 intronic rs1285845 CCDC88C AR,AD NM_001080414 exon29 c.144214+182C>A 0.25639 0.4931 Uncertain 14_91883499_G->A 14 91883499 91883499 G A snp 954.77 0/1 99 102 58 44 0.43 intronic rs1742546 CCDC88C AR,AD NM_001080414 exon29 c.144214+317G>A 0.810703 0.9613 0.7226 0.9394 Uncertain 14_91925027_G->T 14 91925027 91925027 G T snp 695.77 0/1 99 86 50 36 0.42 UTR3 rs10135595 SMEK1 AU 0.460064 0.4673 0.4699 0.4314 0 D 1.000 P -0.901 T Uncertain 14_91927717_G->A 14 91927717 91927717 G A snp 1481.77 0/1 99 112 49 63 0.56 intronic rs8006817 SMEK1 AU NM_001284280 exon2 c.2622-7G>A 0.491414 0.5149 0.467246 0.4931 0.4921 Uncertain 14_91928301_C->A 14 91928301 91928301 C A snp 54.74 1/1 6 2 0 2 1.0 intronic rs2273648 SMEK1 AU NM_001284280 exon3 c.3290-91C>A 0.912141 0.9702 Uncertain 14_91928700_G->A 14 91928700 91928700 G A snp 216.84 1/1 18 6 0 6 1.0 intronic rs2273649 SMEK1 AU NM_001284280 exon3 c.3481+117G>A 0.912141 0.9702 Uncertain 14_91928908_C->G 14 91928908 91928908 C G snp 46.77 0/1 33 3 1 2 0.67 intronic rs17224453 SMEK1 AU NM_001284280 exon4 c.3976-170C>G 0.110423 0.0238 Uncertain 14_91928933_T->C 14 91928933 91928933 T C snp 272.8 1/1 21 9 0 9 1.0 intronic rs4904784 SMEK1 AU NM_001284280 exon4 c.3976-145T>C 0.912141 0.9702 Uncertain 14_91928992_T->G 14 91928992 91928992 T G snp 473.77 0/1 99 37 18 19 0.51 intronic rs5020186 SMEK1 AU NM_001284280 exon4 c.3976-86T>G 0.492412 0.5159 Uncertain 14_91937143_G->A 14 91937143 91937143 G A snp 391.77 0/1 99 48 30 18 0.38 intronic rs10873409 SMEK1 AU NM_001284280 exon6 c.12078-37G>A 0.492013 0.5149 0.467553 0.4926 0.4910 Uncertain 14_91942318_-->A 14 91942318 91942318 - A indel 657.73 0/1 99 64 24 40 0.63 intronic rs139615837 SMEK1 AU NM_001284280 exon9 c.17208+8insA 0.492212 0.5159 0.469649 0.4946 0.4916 Uncertain 14_91942342_T->A 14 91942342 91942342 T A snp 1032.77 1/1 75 34 0 34 1.0 intronic rs10145724 SMEK1 AU NM_001284280 exon9 c.17208+32T>A 0.917931 0.9702 0.866446 0.8744 0.9656 Uncertain 14_91942407_T->G 14 91942407 91942407 T G snp 342.78 1/1 27 9 0 9 1.0 intronic rs10145809 SMEK1 AU NM_001284280 exon9 c.17208+97T>G 0.903754 0.9702 Uncertain 14_91948643_G->A 14 91948643 91948643 G A snp 590.77 1/1 45 15 0 15 1.0 intronic rs6575195 SMEK1 AU NM_001284280 exon12 c.23435+106G>A 0.912141 0.9702 Uncertain 14_91957236_T->A 14 91957236 91957236 T A snp 104.28 1/1 9 5 0 5 1.0 intronic rs10131200 SMEK1 AU NM_001284280 exon14 c.32044+90T>A 0.914537 0.9702 Uncertain 14_92040590_C->- 14 92040590 92040590 C - indel 666.73 0/1 99 34 15 19 0.56 intergenic rs34650717 SMEK1 AU 0.499002 0.5179 0.484798 0.5525 0.5793 ID=COSM1371553;OCCURENCE=7(large_intestine) Uncertain 14_92040690_C->T 14 92040690 92040690 C T snp 1552.77 0/1 99 146 69 77 0.53 intergenic rs139342990 SMEK1 AU 0.00499201 0.0238 0.0015 0.0493 Uncertain 14_92041075_C->G 14 92041075 92041075 C G snp 203.77 0/1 50 10 2 8 0.8 intergenic rs1704614 SMEK1 AU 0.774561 0.9603 Uncertain 14_92058445_G->A 14 92058445 92058445 G A snp 1044.77 0/1 99 64 28 36 0.56 intronic rs1285637 CATSPERB AU NM_024764 exon5 c.11114+99G>A 0.766973 0.9603 Uncertain 14_92074545_T->A 14 92074545 92074545 T A snp 306.77 0/1 99 19 8 11 0.58 intronic rs1743159 CATSPERB AU NM_024764 exon6 c.27405-92T>A 0.61861 0.5565 Uncertain 14_92074856_C->A 14 92074856 92074856 C A snp 83.77 0/1 67 5 2 3 0.6 intronic rs1743158 CATSPERB AU NM_024764 exon6 c.27516+108C>A 0.618211 0.5565 Uncertain 14_92084004_C->G 14 92084004 92084004 C G snp 2350.77 1/1 99 91 0 91 1.0 exonic rs1620238 CATSPERB AU synonymous SNV NM_024764 exon20 c.G2337C p.V779V 0.801118 0.9752 0.713132 0.7916 0.9749 Uncertain 14_92088016_G->A 14 92088016 92088016 G A snp 3248.77 1/1 99 111 0 111 1.0 exonic rs1296082 CATSPERB AU synonymous SNV NM_024764 exon19 c.C2196T p.I732I 0.800319 0.9752 0.711441 0.7897 0.9743 Uncertain 14_92126444_TC->- 14 92126444 92126445 TC - indel 782.73 1/1 60 28 0 28 1.0 intronic rs55665101 CATSPERB AU NM_024764 exon13 c.79093+119_79093+120delTC 0.805112 0.9077 ID=COSN168899;OCCURENCE=1(large_intestine) Uncertain 14_92174343_C->T 14 92174343 92174343 C T snp 436.77 1/1 33 12 0 12 1.0 intronic rs4605095 CATSPERB AU NM_024764 exon22 c.127252-141C>T 0.590655 0.5357 Uncertain 14_92189548_-->A 14 92189548 92189548 - A indel 483.84 1/1 16 29 2 27 0.93 intronic rs35078318 CATSPERB AU NM_024764 exon24 c.142301+15insA 0.417931 0.3889 0.4773 0.4430 Uncertain 14_92264068_A->C 14 92264068 92264068 A C snp 110.77 0/1 99 19 12 7 0.37 intronic rs74650297 TC2N AU NM_001289134 exon4 c.14685-60A>C 0.122005 0.1329 Uncertain 14_92264080_T->- 14 92264080 92264080 T - indel 171.73 0/1 87 26 12 14 0.54 intronic rs201894129 TC2N AU NM_001289134 exon4 c.14685-48delT 0.1807 0.2162 Uncertain 14_92264081_A->- 14 92264081 92264081 A - indel 511.73 1/1 52 26 1 25 0.96 intronic rs397840461 TC2N AU NM_001289134 exon4 c.14685-47delA 0.710264 0.7411 0.5700 0.5725 Uncertain 14_92268615_T->G 14 92268615 92268615 T G snp 3204.83 1/1 99 120 0 120 1.0 exonic rs2402073 TC2N AU nonsynonymous SNV NM_001128595 exon4 c.A452C p.K151T 0.966853 1 0.978087 0.9773 0.9999 0.73 T 0.0 P -0.991 T 0.0 T 0.0 T Pathogenic 14_92280037_T->C 14 92280037 92280037 T C snp 1194.77 0/1 99 101 45 56 0.55 intronic rs10134181 TC2N AU NM_001289134 exon10 c.30603-9T>C 0.397564 0.4772 0.436077 0.5013 0.4897 Uncertain 14_92336775_T->C 14 92336775 92336775 T C snp 119.77 0/1 99 8 3 5 0.63 intronic rs929608 FBLN5 AU,AD,AR NM_006329 exon1 c.162+46T>C 0.458267 0.6548 0.410887 0.4909 0.6535 Uncertain 14_92343764_C->T 14 92343764 92343764 C T snp 1866.77 1/1 99 72 0 72 1.0 intronic rs2430341 FBLN5 AU,AD,AR NM_006329 exon2 c.7263-66C>T 0.902157 1 Uncertain 14_92344244_T->C 14 92344244 92344244 T C snp 2681.77 0/1 99 246 119 127 0.52 intronic rs2430342 FBLN5 AU,AD,AR NM_006329 exon2 c.7459+218T>C 0.392772 0.3036 0.3707 0.4 Uncertain 14_92344249_T->G 14 92344249 92344249 T G snp 2685.77 0/1 99 241 113 128 0.53 intronic rs10147178 FBLN5 AU,AD,AR NM_006329 exon2 c.7459+223T>G 0.190695 0.2312 0.1814 0.3036 Uncertain 14_92344300_A->G 14 92344300 92344300 A G snp 2024.77 0/1 99 141 56 85 0.6 intronic rs2498847 FBLN5 AU,AD,AR NM_006329 exon2 c.7459+274A>G 0.392971 0.3046 0.3638 0.3733 Uncertain 14_92347478_C->T 14 92347478 92347478 C T snp 56.74 1/1 6 2 0 2 1.0 intronic rs77483000 FBLN5 AU,AD,AR NM_006329 exon3 c.11068-157C>T Uncertain 14_92347680_A->G 14 92347680 92347680 A G snp 2987.77 1/1 99 109 0 109 1.0 exonic rs2430347 FBLN5 AU,AD,AR synonymous SNV NM_006329 exon9 c.T945C p.I315I 0.784944 0.8323 0.756805 0.7609 0.8419 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000150685.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 14_92403660_T->C 14 92403660 92403660 T C snp 178.77 0/1 99 13 7 6 0.46 intronic rs2474028 FBLN5 AU,AD,AR NM_006329 exon8 c.66978+115T>C 0.70647 0.7728 Uncertain 14_92420861_C->T 14 92420861 92420861 C T snp 33.77 0/1 62 4 2 2 0.5 intergenic rs2430336 FBLN5 AU,AD,AR 0.618411 0.3968 Uncertain 14_92441066_C->T 14 92441066 92441066 C T snp 303.77 0/1 99 22 9 13 0.59 exonic rs1051340 TRIP11 AR nonsynonymous SNV NM_004239 exon19 c.G5479A p.G1827S 0.271366 0.3065 0.293326 0.3155 0.3390 0.05 T 0.999 P -0.973 T 0.973 D 0.351 D Pathogenic 14_92459958_C->T 14 92459958 92459958 C T snp 37.77 0/1 66 4 2 2 0.5 intronic rs8007661 TRIP11 AR NM_004239 exon7 c.24136-194C>T 0.514776 0.4107 Uncertain 14_92460098_C->A 14 92460098 92460098 C A snp 787.77 0/1 99 73 36 37 0.51 intronic rs2273185 TRIP11 AR NM_004239 exon7 c.24136-54C>A 0.271765 0.3056 Uncertain 14_92473943_T->C 14 92473943 92473943 T C snp 765.77 0/1 99 49 22 27 0.55 intronic rs3818095 TRIP11 AR NM_004239 exon12 c.37967-40T>C 0.279553 0.3085 0.300200 0.3131 0.3400 Uncertain 14_92477168_A->G 14 92477168 92477168 A G snp 1154.77 0/1 99 77 39 38 0.49 intronic rs2277526 TRIP11 AR NM_004239 exon13 c.41313-161A>G 0.633786 0.4415 Uncertain 14_92491853_T->C 14 92491853 92491853 T C snp 409.77 0/1 99 42 23 19 0.45 intronic rs2295171 TRIP11 AR NM_004239 exon19 c.55748+89T>C 0.478235 0.4167 Uncertain 14_92537163_T->G 14 92537163 92537163 T G snp 547.77 0/1 99 50 29 21 0.42 intronic rs3092822 ATXN3 AD NM_001164780 exon2 c.6615-115T>G 0.338858 0.4405 0.3946 0.5562 Uncertain 14_92537223_G->T 14 92537223 92537223 G T snp 873.77 0/1 99 103 62 41 0.4 intronic rs7158733 ATXN3 AD NM_001164780 exon2 c.6615-55G>T 0.338858 0.4405 0.2754 0.4415 1 T 0.0 P Uncertain 14_92537354_C->G 14 92537354 92537354 C G snp 453.77 0/1 99 55 35 20 0.36 exonic rs12895357 ATXN3 AD nonsynonymous SNV NM_004993 exon10 c.G916C p.G306R 0.275958 0.4236 0.162617 0.21 T 0.0 P -0.945 T 0.0 T 0.003 T CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000116485.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 14_92537379_T->C 14 92537379 92537379 T C snp 329.77 0/1 99 37 24 13 0.35 exonic rs12896583 ATXN3 AD synonymous SNV NM_004993 exon10 c.A891G p.Q297Q 0.3342 0.2868 CLINSIG=unknown;CLNDBN=not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000116484.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Uncertain 14_92537387_T->G 14 92537387 92537387 T G snp 31.77 0/1 60 27 23 4 0.15 exonic rs12896588 ATXN3 AD nonsynonymous SNV NM_004993 exon10 c.A883C p.K295Q 0.3396 0.3086 1 T 1 N -1.045 T 0.0 T 0.005 T CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000116483.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 14_92537388_T->C 14 92537388 92537388 T C snp 31.77 0/1 60 27 23 4 0.15 exonic rs12896589 ATXN3 AD synonymous SNV NM_004993 exon10 c.A882G p.Q294Q 0.3294 0.3072 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000116482.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 14_92547145_G->T 14 92547145 92547145 G T snp 94.77 0/1 99 24 19 5 0.21 intronic rs761551 ATXN3 AD NM_001164780 exon3 c.16645-163G>T 0.32528 0.4405 0.3417 0.5178 Uncertain 14_92547176_G->A 14 92547176 92547176 G A snp 109.77 0/1 99 36 29 7 0.19 intronic rs761552 ATXN3 AD NM_001164780 exon3 c.16645-132G>A 0.339058 0.4405 0.3383 0.5389 0 D 0.0 P -0.915 T Uncertain 14_92547425_C->G 14 92547425 92547425 C G snp 112.77 0/1 99 13 7 6 0.46 intronic rs761553 ATXN3 AD NM_001164780 exon3 c.16742+20C>G 0.338858 0.4405 0.285791 0.2797 0.4476 Uncertain 14_92548785_C->T 14 92548785 92548785 C T snp 2498.77 0/1 99 203 93 110 0.54 exonic rs1048755 ATXN3 AD nonsynonymous SNV NM_004993 exon8 c.G634A p.V212M 0.32508 0.4405 0.272874 0.2714 0.4413 0.18 T 0.001 P -0.913 T 0.125 T 0.087 T CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000116481.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 14_92548896_A->C 14 92548896 92548896 A C snp 530.77 0/1 99 43 25 18 0.42 intronic rs10146519 ATXN3 AD NM_001164780 exon4 c.18147+86A>C 0.338858 0.4405 Uncertain 14_92549586_G->A 14 92549586 92549586 G A snp 1401.77 0/1 99 101 41 60 0.59 exonic rs16999141 ATXN3 AD synonymous SNV NM_004993 exon7 c.C492T p.V164V 0.566693 0.5565 0.541596 0.5028 0.5392 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000116480.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 14_92549632_C->A 14 92549632 92549632 C A snp 502.77 0/1 99 30 14 16 0.53 intronic rs12590497 ATXN3 AD NM_001164780 exon5 c.18939+30C>A 0.338858 0.4405 0.284451 0.2818 0.4490 Uncertain 14_92550114_A->G 14 92550114 92550114 A G snp 39.77 0/1 68 4 2 2 0.5 intronic rs8013582 ATXN3 AD NM_001164780 exon5 c.18939+512A>G 0.338858 0.4405 Uncertain 14_92555199_T->C 14 92555199 92555199 T C snp 891.77 0/1 99 65 32 33 0.51 intronic rs8003041 ATXN3 AD NM_001164780 exon6 c.24498+38T>C 0.334465 0.4405 0.279584 0.2741 0.4425 Uncertain 14_92559678_G->C 14 92559678 92559678 G C snp 147.77 0/1 99 24 15 9 0.38 intronic rs4904834 ATXN3 AD NM_001164780 exon7 c.28999+16G>C 0.495008 0.5298 0.456818 0.4426 0.5361 Uncertain 14_92560008_G->A 14 92560008 92560008 G A snp 109.77 0/1 99 12 7 5 0.42 intronic rs1997920 ATXN3 AD NM_001164778 exon4 c.22770-81G>A 0.334465 0.4405 Uncertain 14_92560311_A->G 14 92560311 92560311 A G snp 96.77 0/1 99 12 8 4 0.33 intronic rs2402108 ATXN3 AD NM_001164778 exon4 c.22856+136A>G 0.77516 0.5704 Uncertain 14_92562277_C->T 14 92562277 92562277 C T snp 186.77 0/1 99 15 7 8 0.53 intronic rs17847278 ATXN3 AD NM_001164778 exon5 c.25117-159C>T 0.315495 0.4405 Uncertain 14_92562568_T->C 14 92562568 92562568 T C snp 1830.77 1/1 99 65 0 65 1.0 intronic rs12147767 ATXN3 AD NM_001164778 exon5 c.25162+87T>C 0.351637 0.5288 Uncertain 14_92582472_G->A 14 92582472 92582472 G A snp 778.77 1/1 57 28 0 28 1.0 UTR3 rs13350 NDUFB1 AU 0.539137 0.8552 0.389619 Uncertain 14_92582655_T->A 14 92582655 92582655 T A snp 148.77 0/1 99 11 4 7 0.64 intronic rs11160044 NDUFB1 AU NM_004545 exon1 c.37+82T>A 0.295927 0.5347 0.186597 Uncertain 14_92582680_T->C 14 92582680 92582680 T C snp 50.74 1/1 6 2 0 2 1.0 intronic rs12050222 NDUFB1 AU NM_004545 exon1 c.37+107T>C Uncertain 14_92584021_-->TTTT 14 92584021 92584021 - TTTT indel 1590.73 1/1 75 25 0 25 1.0 intronic rs36078150 NDUFB1 AU NM_004545 exon2 c.1450+35insTTTT 0.538938 0.8552 0.383796 0.4112 0.8195 Uncertain 14_92584064_A->G 14 92584064 92584064 A G snp 349.77 1/1 30 17 0 17 1.0 intronic rs12882784 NDUFB1 AU NM_004545 exon2 c.1450+78A>G 0.538938 0.8552 Uncertain 14_92585205_T->C 14 92585205 92585205 T C snp 52.74 1/1 6 3 0 3 1.0 intronic rs7152991 NDUFB1 AU NM_004545 exon2 c.1450+1219T>C 0.539137 0.8552 Uncertain 14_92585304_C->A 14 92585304 92585304 C A snp 77.77 0/1 99 12 6 6 0.5 intronic rs34114160 NDUFB1 AU NM_004545 exon2 c.1450+1318C>A 0.215655 0.4048 0.1946 0.4355 Uncertain 14_92585332_-->AA 14 92585332 92585332 - AA indel 495.73 1/1 42 17 0 17 1.0 intronic rs10649809 NDUFB1 AU NM_004545 exon2 c.1450+1346insAA 0.3956 0.7143 Uncertain 14_92588002_T->G 14 92588002 92588002 T G snp 2077.77 1/1 99 78 0 78 1.0 exonic rs3818263 NDUFB1 AU synonymous SNV NM_004545 exon1 c.A120C p.V40V 0.539736 0.8552 0.395862 0.4273 0.8334 Uncertain 14_92588156_TTTT->- 14 92588156 92588159 TTTT - indel 3608.73 1/1 99 80 1 79 0.99 upstream rs10603293 CPSF2 AU 0.533347 0.8452 0.399525 0.4231 0.8133 Uncertain 14_92588192_T->C 14 92588192 92588192 T C snp 504.77 0/1 99 65 41 24 0.37 upstream rs12886909 CPSF2 AU 0.213458 0.4018 Uncertain 14_92588219_G->A 14 92588219 92588219 G A snp 1227.77 1/1 93 51 0 51 1.0 upstream rs7148709 CPSF2 AU 0.539537 0.8542 Uncertain 14_92609334_T->C 14 92609334 92609334 T C snp 1104.77 0/1 99 110 70 40 0.36 intronic rs35609412 CPSF2 AU NM_017437 exon9 c.12019-13T>C 0.24381 0.3194 0.193065 0.1998 0.2859 Uncertain 14_92622679_T->A 14 92622679 92622679 T A snp 237.77 0/1 84 10 3 7 0.7 intronic rs45600140 CPSF2 AU NM_017437 exon12 c.25494-143T>A 0.24401 0.3194 Uncertain 14_92627340_C->T 14 92627340 92627340 C T snp 35.77 0/1 64 6 4 2 0.33 intronic rs2295724 CPSF2 AU NM_017437 exon15 c.30127-115C>T 0.247604 0.3234 Uncertain 14_92627668_T->A 14 92627668 92627668 T A snp 995.77 1/1 72 35 0 35 1.0 intronic rs2025071 CPSF2 AU NM_017437 exon15 c.30262+78T>A 0.656749 0.9812 Uncertain 14_92627710_T->C 14 92627710 92627710 T C snp 105.77 0/1 99 12 8 4 0.33 intronic rs2025070 CPSF2 AU NM_017437 exon15 c.30262+120T>C 0.280152 0.5248 Uncertain 14_92790077_A->G 14 92790077 92790077 A G snp 174.9 1/1 15 5 0 5 1.0 upstream rs12883151 SLC24A4 AR 0.30012 0.4643 Uncertain 14_92790513_G->T 14 92790513 92790513 G T snp 133.03 1/1 12 4 0 4 1.0 intronic rs4144268 SLC24A4 AR NM_153646 exon1 c.130+209G>T 0.867013 1 Uncertain 14_92792255_G->A 14 92792255 92792255 G A snp 4897.77 1/1 99 171 0 171 1.0 exonic rs941646 SLC24A4 AR synonymous SNV NM_153646 exon2 c.G174A p.T58T 0.935304 1 0.934799 0.9828 1 Uncertain 14_92792432_T->C 14 92792432 92792432 T C snp 254.8 1/1 21 8 0 8 1.0 intronic rs941645 SLC24A4 AR NM_153648 exon2 c.49+110T>C 0.946486 1 Uncertain 14_92905817_A->G 14 92905817 92905817 A G snp 2168.77 1/1 99 84 0 84 1.0 intronic rs4900122 SLC24A4 AR NM_153648 exon4 c.113480+64A>G 0.853435 0.9881 0.750767 Uncertain 14_92909073_T->C 14 92909073 92909073 T C snp 4390.77 1/1 99 163 0 163 1.0 exonic rs941650 SLC24A4 AR synonymous SNV NM_153646 exon6 c.T495C p.H165H 0.857029 0.9871 0.775027 0.7895 0.9821 1.000 P -1.015 T Likely benign 14_92909979_C->T 14 92909979 92909979 C T snp 528.77 0/1 99 26 10 16 0.62 intronic rs72631612 SLC24A4 AR NM_153648 exon7 c.117545+161C>T 0.19988 0.244 Uncertain 14_92911593_C->A 14 92911593 92911593 C A snp 1449.77 0/1 99 156 86 70 0.45 intronic rs6575255 SLC24A4 AR NM_153648 exon8 c.119387-67C>A 0.125799 0.1012 0.134472 0.0902 0.0997 Uncertain 14_92915626_ACACACACAC->- 14 92915626 92915635 ACACACACAC - indel 841.73 0/1 99 31 6 25 0.81 intronic rs36228701 SLC24A4 AR NM_153648 exon10 c.123287+66_123287+75delACACACACAC Uncertain 14_92920371_C->T 14 92920371 92920371 C T snp 3286.77 1/1 99 124 0 124 1.0 exonic rs7144273 SLC24A4 AR synonymous SNV NM_153646 exon11 c.C1008T p.P336P 0.561102 0.5952 0.562971 0.5039 0.5448 1.0 P Uncertain 14_92922713_T->C 14 92922713 92922713 T C snp 2497.77 1/1 99 84 0 84 1.0 intronic rs7158400 SLC24A4 AR NM_153648 exon12 c.130474-34T>C 0.75599 0.6815 0.800246 0.7286 0.6421 Uncertain 14_92950061_C->G 14 92950061 92950061 C G snp 587.77 0/1 99 70 46 24 0.34 intronic rs75541565 SLC24A4 AR NM_153648 exon13 c.156917+871C>G 0.217452 0.3363 0.2167 0.335 Uncertain 14_92950264_C->T 14 92950264 92950264 C T snp 955.77 0/1 99 71 35 36 0.51 intronic rs58098863 SLC24A4 AR NM_153648 exon13 c.156917+1074C>T 0.047524 0.1587 Uncertain 14_92952838_C->A 14 92952838 92952838 C A snp 56.74 1/1 6 2 0 2 1.0 intronic rs4904941 SLC24A4 AR NM_153648 exon14 c.160736-171C>A 0.244609 0.3383 Uncertain 14_92958398_A->G 14 92958398 92958398 A G snp 44.77 0/1 33 3 1 2 0.67 intronic rs2402168 SLC24A4 AR NM_153648 exon16 c.166245-120A>G 0.242412 0.3323 Uncertain 14_92958503_G->- 14 92958503 92958503 G - indel 693.73 0/1 99 44 25 19 0.43 intronic rs34605132 SLC24A4 AR NM_153648 exon16 c.166245-15delG 0.242812 0.3323 0.173163 0.1799 0.3131 Uncertain 14_92958612_G->A 14 92958612 92958612 G A snp 938.77 0/1 99 102 58 44 0.43 intronic rs7150406 SLC24A4 AR NM_153648 exon16 c.166311+28G>A 0.227636 0.1617 0.224512 0.2537 0.1723 Uncertain 14_92959228_G->A 14 92959228 92959228 G A snp 190.77 0/1 99 20 11 9 0.45 intronic rs78254567 SLC24A4 AR NM_153648 exon17 c.167546-591G>A 0.251597 0.3433 0.2218 0.3418 0.0 P -1.010 T Uncertain 14_92959282_G->A 14 92959282 92959282 G A snp 191.77 0/1 99 13 4 9 0.69 intronic rs79685763 SLC24A4 AR NM_153648 exon17 c.167546-537G>A 0.251198 0.3403 0.2316 0.3533 Uncertain 14_92960025_T->C 14 92960025 92960025 T C snp 1074.77 1/1 78 38 0 38 1.0 UTR3 rs4904942 SLC24A4 AR 1 1 Uncertain 14_92981606_C->G 14 92981606 92981606 C G snp 1341.77 0/1 99 104 46 58 0.56 intronic rs55930890 RIN3 AU NM_024832 exon1 c.44+1286C>G 0.21885 0.1458 0.2874 0.1288 0.0 P -0.952 T Uncertain 14_93118038_A->G 14 93118038 93118038 A G snp 1600.77 0/1 99 166 92 74 0.45 exonic rs3829947 RIN3 AU nonsynonymous SNV NM_024832 exon6 c.A644G p.H215R 0.442492 0.2748 0.531524 0.4877 0.2729 0.83 T 0.586 P -0.936 T 0.0 T 0.001 T Pathogenic 14_93118668_C->T 14 93118668 93118668 C T snp 6848.77 1/1 99 245 0 245 1.0 exonic rs3742717 RIN3 AU nonsynonymous SNV NM_024832 exon6 c.C1274T p.T425M 0.292532 0.4415 0.170383 0.2385 0.4625 0.1 T 0.000 P -0.960 T 0.293 T 0.031 T Pathogenic 14_93119407_C->T 14 93119407 93119407 C T snp 699.77 0/1 99 75 45 30 0.4 exonic rs3818321 RIN3 AU synonymous SNV NM_024832 exon6 c.C2013T p.S671S 0.171925 0.2063 0.104051 0.0854 0.2319 1.000 P Uncertain 14_93125415_G->C 14 93125415 93125415 G C snp 779.77 0/1 99 57 31 26 0.46 intronic rs2295991 RIN3 AU NM_024832 exon7 c.145229-90G>C 0.342053 0.2073 Uncertain 14_93142637_G->A 14 93142637 93142637 G A snp 111.77 0/1 99 9 5 4 0.44 intronic rs2273924 RIN3 AU NM_024832 exon8 c.162543-182G>A 0.265375 0.255 Uncertain 14_93142645_T->C 14 93142645 93142645 T C snp 104.77 0/1 99 12 8 4 0.33 intronic rs2273923 RIN3 AU NM_024832 exon8 c.162543-174T>C 0.267772 0.255 Uncertain 14_93143047_G->A 14 93143047 93143047 G A snp 225.77 0/1 99 13 6 7 0.54 intronic rs12886618 RIN3 AU NM_024832 exon8 c.162675+96G>A 0.266973 0.255 Uncertain 14_93154538_GGC->- 14 93154538 93154540 GGC - indel 5608.73 0/1 99 247 114 133 0.54 exonic rs570458246 RIN3 AU nonframeshift deletion NM_024832 exon10 c.2899_2901del p.967_967del 0.709483 0.6674 0.7923 ID=COSM958885;OCCURENCE=2(endometrium),8(large_intestine),1(upper_aerodigestive_tract) Uncertain 14_93170741_T->C 14 93170741 93170741 T C snp 3401.77 1/1 99 121 0 121 1.0 intronic rs2250672 LGMN AU NM_005606 exon1 c.43+35T>C 0.562101 0.4563 0.561664 0.5217 0.4647 Uncertain 14_93170901_A->C 14 93170901 93170901 A C snp 3164.77 1/1 99 102 0 102 1.0 intronic rs2402189 LGMN AU NM_005606 exon2 c.321-83A>C 0.729034 0.7659 Uncertain 14_93172735_C->A 14 93172735 93172735 C A snp 110.77 0/1 99 10 4 6 0.6 intronic rs17128499 LGMN AU NM_005606 exon3 c.2164-92C>A 0.0451278 0.1409 Uncertain 14_93178191_A->G 14 93178191 93178191 A G snp 7010.77 1/1 99 248 0 248 1.0 exonic rs1951708 LGMN AU synonymous SNV NM_005606 exon9 c.T720C p.D240D 0.997005 1 0.996309 0.9991 1 Uncertain 14_93180727_A->G 14 93180727 93180727 A G snp 2437.77 0/1 99 190 83 107 0.56 exonic rs59223493 LGMN AU synonymous SNV NM_005606 exon6 c.T474C p.N158N 0.0463259 0.123 0.012840 0.0318 0.1501 Uncertain 14_93183565_C->T 14 93183565 93183565 C T snp 201.77 0/1 58 10 3 7 0.7 intronic rs2295987 LGMN AU NM_005606 exon11 c.13061-159C>T 0.141374 0.2579 Uncertain 14_93183718_C->T 14 93183718 93183718 C T snp 1686.77 0/1 99 144 76 68 0.47 intronic rs2295986 LGMN AU NM_005606 exon11 c.13061-6C>T 0.048123 0.1468 0.001000 0.0223 0.1406 Uncertain 14_93185297_-->CT 14 93185297 93185297 - CT indel 937.73 0/1 99 28 7 21 0.75 intronic rs78143291 LGMN AU NM_005606 exon12 c.14526+108insCT 0.191494 0.2579 Uncertain 14_93199203_T->A 14 93199203 93199203 T A snp 1902.77 1/1 99 63 0 63 1.0 intronic rs1613441 LGMN AU NM_005606 exon13 c.28497+43T>A 0.81849 0.8849 Uncertain 14_93276654_T->C 14 93276654 93276654 T C snp 3284.77 1/1 99 129 0 129 1.0 exonic rs1040835 GOLGA5 AU nonsynonymous SNV NM_005113 exon5 c.T1048C p.F350L 0.859625 0.8323 0.796248 0.7999 0.8494 1 T 0.000 P -0.989 T 0.0 T 0.0 T Pathogenic 14_93276806_C->T 14 93276806 93276806 C T snp 1304.77 1/1 93 43 0 43 1.0 intronic rs1040833 GOLGA5 AU NM_005113 exon5 c.12940+84C>T 0.852636 0.8323 Uncertain 14_93282872_-->CTTCG 14 93282872 93282872 - CTTCG indel 390.77 1/1 21 12 0 12 1.0 intronic rs142530146 GOLGA5 AU NM_005113 exon7 c.18984+106insCTTCG Uncertain 14_93285962_G->A 14 93285962 93285962 G A snp 519.77 1/1 42 14 0 14 1.0 intronic rs12880298 GOLGA5 AU NM_005113 exon8 c.22270-90G>A 0.660343 0.6518 Uncertain 14_93286292_C->- 14 93286292 93286292 C - indel 1539.73 1/1 99 42 0 42 1.0 intronic rs10716250 GOLGA5 AU NM_005113 exon8 c.22399+111delC 0.796925 0.8313 Uncertain 14_93290723_A->G 14 93290723 93290723 A G snp 1098.77 1/1 81 33 0 33 1.0 intronic rs3818256 GOLGA5 AU NM_005113 exon9 c.27108-167A>G 0.859625 0.8323 Uncertain 14_93290856_T->C 14 93290856 93290856 T C snp 3480.77 1/1 99 124 0 124 1.0 intronic rs2273646 GOLGA5 AU NM_005113 exon9 c.27108-34T>C 0.796925 0.8313 0.298631 0.7371 0.8469 Uncertain 14_93290859_C->T 14 93290859 93290859 C T snp 3442.77 1/1 99 124 0 124 1.0 intronic rs2273645 GOLGA5 AU NM_005113 exon9 c.27108-31C>T 0.796925 0.8313 0.303398 0.7371 0.8464 Uncertain 14_93303604_C->T 14 93303604 93303604 C T snp 1317.77 1/1 96 39 0 39 1.0 intronic rs4904994 GOLGA5 AU NM_005113 exon12 c.39948-126C>T 0.796925 0.8313 Uncertain 14_93303850_-->GTTTC 14 93303850 93303850 - GTTTC indel 2013.73 1/1 72 32 1 31 0.97 intronic rs113573267 GOLGA5 AU NM_005113 exon12 c.40012+56insGTTTC Uncertain 14_93303854_T->C 14 93303854 93303854 T C snp 518.77 0/1 78 30 7 23 0.77 intronic rs74598769 GOLGA5 AU NM_005113 exon12 c.40012+60T>C 0.655551 0.6706 Uncertain 14_93303855_G->T 14 93303855 93303855 G T snp 638.77 0/1 62 30 6 24 0.8 intronic rs34061602 GOLGA5 AU NM_005113 exon12 c.40012+61G>T 0.80611 0.8323 Uncertain 14_93389403_A->C 14 93389403 93389403 A C snp 1240.77 1/1 90 44 0 44 1.0 upstream rs7159323 CHGA AU 0.849042 0.9544 Uncertain 14_93390805_A->G 14 93390805 93390805 A G snp 56.74 1/1 6 2 0 2 1.0 intronic rs941585 CHGA AU NM_001275 exon2 c.886+215A>G 0.986621 1 Uncertain 14_93392834_C->A 14 93392834 93392834 C A snp 2141.77 1/1 99 78 0 78 1.0 intronic rs7146118 CHGA AU NM_001275 exon3 c.3245-115C>A 0.79393 0.9534 Uncertain 14_93398031_G->C 14 93398031 93398031 G C snp 2350.77 0/1 99 223 123 100 0.45 exonic rs9658655 CHGA AU nonsynonymous SNV NM_001275 exon6 c.G792C p.E264D 0.183506 0.2391 0.116100 0.1277 0.2391 0.25 T 1.000 P -0.763 T 0.872 T 0.535 P Pathogenic 14_93398078_G->A 14 93398078 93398078 G A snp 2165.77 0/1 99 205 111 94 0.46 intronic rs9658656 CHGA AU NM_001275 exon6 c.8343+31G>A 0.182308 0.2391 0.115331 0.1243 0.2378 Uncertain 14_93398144_A->G 14 93398144 93398144 A G snp 1276.77 0/1 99 110 57 53 0.48 intronic rs11851859 CHGA AU NM_001275 exon6 c.8343+97A>G 0.273163 0.4018 Uncertain 14_93399306_A->G 14 93399306 93399306 A G snp 46.77 0/1 33 3 1 2 0.67 intronic rs4900163 CHGA AU NM_001275 exon7 c.9492+110A>G 0.188698 0.2391 Uncertain 14_93401178_A->G 14 93401178 93401178 A G snp 3910.77 1/1 99 148 1 147 0.99 exonic rs941581 CHGA AU synonymous SNV NM_001275 exon8 c.A1323G p.E441E 0.795327 0.9554 0.730846 0.7664 0.9381 Uncertain 14_93401316_T->C 14 93401316 93401316 T C snp 462.77 1/1 36 14 0 14 1.0 UTR3 rs7610 CHGA AU 0.84405 0.9554 ID=CR086315;DIS=Hypertension, association with;TAG=DFP;PUB=19017515 DFP Uncertain 14_93404674_T->C 14 93404674 93404674 T C snp 587.77 1/1 45 15 0 15 1.0 intergenic rs6575304 CHGA AU 0.48143 0.7183 Uncertain 14_93404887_A->G 14 93404887 93404887 A G snp 1403.77 0/1 99 102 43 59 0.58 intergenic rs775562584 CHGA AU 3.45e-05 0.0005 Uncertain 14_93407062_A->G 14 93407062 93407062 A G snp 3734.77 1/1 99 130 0 130 1.0 UTR3 rs1043542 ITPK1 AU 0.710863 0.8661 0.6194 0.9328 0.8 T 0.0 P -0.990 T Uncertain 14_93407195_-->A 14 93407195 93407195 - A indel 6214.73 1/1 99 152 0 152 1.0 UTR3 rs142097656 ITPK1 AU 0.0920527 0.2183 Uncertain 14_93407247_C->T 14 93407247 93407247 C T snp 2471.77 1/1 99 86 0 86 1.0 UTR3 rs77138997 ITPK1 AU 0.0656949 0.2153 Uncertain 14_93407248_A->G 14 93407248 93407248 A G snp 2465.77 1/1 99 83 0 83 1.0 UTR3 rs11446 ITPK1 AU 0.736422 0.7034 Uncertain 14_93408451_G->A 14 93408451 93408451 G A snp 50.74 1/1 6 2 0 2 1.0 intronic rs4905011 ITPK1 AU NM_014216 exon1 c.344+202G>A 0.257188 0.2927 Uncertain 14_93412609_A->G 14 93412609 93412609 A G snp 1062.77 1/1 78 35 0 35 1.0 intronic rs1998054 ITPK1 AU NM_001142594 exon2 c.7848-66A>G 0.510184 0.7996 Uncertain 14_93412743_G->A 14 93412743 93412743 G A snp 3292.77 1/1 99 126 0 126 1.0 exonic rs2295394 ITPK1 AU synonymous SNV NM_014216 exon10 c.C834T p.F278F 0.108826 0.2133 0.069891 0.0845 0.2147 Uncertain 14_93418155_T->C 14 93418155 93418155 T C snp 732.77 1/1 54 20 0 20 1.0 intronic rs2273392 ITPK1 AU NM_001142594 exon3 c.13463-135T>C 0.130591 0.2192 Uncertain 14_93418156_G->C 14 93418156 93418156 G C snp 802.77 1/1 60 22 0 22 1.0 intronic rs2273391 ITPK1 AU NM_001142594 exon3 c.13463-134G>C 0.130591 0.2192 Uncertain 14_93428802_T->A 14 93428802 93428802 T A snp 646.77 0/1 99 100 67 33 0.33 intronic rs2295393 ITPK1 AU NM_001142594 exon5 c.23913+62T>A 0.0930511 0.1915 0.055191 Uncertain 14_93429060_G->A 14 93429060 93429060 G A snp 1150.77 0/1 99 97 49 48 0.49 intronic rs2295392 ITPK1 AU NM_001142594 exon6 c.24268-35G>A 0.225639 0.3323 0.210826 0.1944 0.3204 Uncertain 14_93532678_T->G 14 93532678 93532678 T G snp 619.77 0/1 99 63 42 21 0.33 intronic rs541954839 ITPK1 AU NM_001142594 exon9 c.138112-10261T>G 0.148163 0.1022 0.2131 0.1418 1.000 N -1.006 T Uncertain 14_93532680_T->G 14 93532680 93532680 T G snp 529.77 0/1 99 57 38 19 0.33 intronic rs776366262 ITPK1 AU NM_001142594 exon9 c.138112-10259T>G 0.2133 0.1343 Uncertain 14_93532682_TGTGTA->- 14 93532682 93532687 TGTGTA - indel 1529.73 0/1 99 58 37 21 0.36 intronic rs200126261 ITPK1 AU NM_001142594 exon9 c.138112-10257_138112-10252delTGTGTA 0.2151 0.1364 Uncertain 14_93542681_A->G 14 93542681 93542681 A G snp 41.77 0/1 51 4 2 2 0.5 intronic rs57173352 ITPK1 AU NM_001142594 exon9 c.138112-258A>G 0.199481 0.1389 Uncertain 14_93649501_A->G 14 93649501 93649501 A G snp 201.77 0/1 99 19 12 7 0.37 UTR3 rs1046099 MOAP1 AU 0.694089 0.6885 0.700369 0.6804 0.7005 Uncertain 14_93655100_C->T 14 93655100 93655100 C T snp 465.77 0/1 99 53 31 22 0.42 intergenic rs80180166 TMEM251 AU 0.0139776 0.0585 Uncertain 14_93686568_C->T 14 93686568 93686568 C T snp 41.77 0/1 70 5 2 3 0.6 intronic rs201506110 UBR7 AU NM_175748 exon9 c.12958-26C>T 0.0269569 0.0159 Uncertain 14_93712645_AA->- 14 93712645 93712646 AA - indel 296.73 0/1 99 63 18 45 0.71 intronic rs139992045 BTBD7 AU NM_001289133 exon2 c.4014+13_4014+14delAA 0.311302 0.2708 0.2718 0.3047 Uncertain 14_93720181_T->C 14 93720181 93720181 T C snp 175.77 0/1 99 15 7 8 0.53 intronic rs8012209 BTBD7 AU NM_001289133 exon5 c.11518+45T>C 0.420327 0.3909 0.393269 0.3894 0.4427 Uncertain 14_93762162_C->T 14 93762162 93762162 C T snp 181.77 0/1 99 19 11 8 0.42 intronic rs2273639 BTBD7 AU NM_018167 exon3 c.7333-153C>T 0.408546 0.3899 Uncertain 14_93799221_G->A 14 93799221 93799221 G A snp 617.77 0/1 99 53 25 28 0.53 exonic rs2273640 BTBD7 AU synonymous SNV NM_001289133 exon1 c.C54T p.G18G 0.192292 0.3264 0.2492 0.2295 Uncertain 14_93943998_G->A 14 93943998 93943998 G A snp 4568.77 1/1 99 161 0 161 1.0 exonic rs61992606 UNC79 AU synonymous SNV NM_020818 exon4 c.G12A p.T4T 0.372804 0.6964 0.296325 0.3386 0.6467 Uncertain 14_93953907_-->T 14 93953907 93953907 - T indel 418.73 1/1 39 20 2 18 0.9 intronic rs33942732 UNC79 AU NM_020818 exon5 c.10022-101insT 0.790335 0.8512 Uncertain 14_93954192_C->T 14 93954192 93954192 C T snp 1045.77 1/1 78 32 0 32 1.0 intronic rs12884458 UNC79 AU NM_020818 exon5 c.10115+91C>T 0.369609 0.6944 Uncertain 14_93962691_G->A 14 93962691 93962691 G A snp 96.28 1/1 9 3 0 3 1.0 intronic rs8006093 UNC79 AU NM_020818 exon6 c.18770-65G>A 0.965256 0.9405 Uncertain 14_93963402_A->G 14 93963402 93963402 A G snp 181.9 1/1 15 7 0 7 1.0 intronic rs6575337 UNC79 AU NM_020818 exon7 c.19516-100A>G 0.370607 0.6984 Uncertain 14_93998806_C->A 14 93998806 93998806 C A snp 249.8 1/1 21 8 0 8 1.0 intronic rs942068 UNC79 AU NM_020818 exon11 c.54909-89C>A 0.849441 0.9375 Uncertain 14_94007075_C->T 14 94007075 94007075 C T snp 115.77 0/1 99 36 30 6 0.17 exonic rs1951716 UNC79 AU synonymous SNV NM_020818 exon13 c.C891T p.G297G 0.485224 0.2113 0.588882 0.5774 0.2421 Uncertain 14_94008753_A->G 14 94008753 94008753 A G snp 1014.77 1/1 78 36 0 36 1.0 intronic rs12893237 UNC79 AU NM_020818 exon14 c.64825-58A>G 0.857228 0.9435 Uncertain 14_94063949_C->T 14 94063949 94063949 C T snp 33.77 0/1 62 6 4 2 0.33 intronic rs11160132 UNC79 AU NM_020818 exon24 c.119900+63C>T 0.533546 0.3452 Uncertain 14_94088587_G->A 14 94088587 94088587 G A snp 1643.77 0/1 99 124 64 60 0.48 exonic rs4905081 UNC79 AU nonsynonymous SNV NM_020818 exon30 c.G4477A p.V1493I 0.371006 0.38 0.397663 0.4734 0.3925 0.58 T 0.0 P -0.922 T 0.0 T 0.001 T Pathogenic 14_94097287_G->A 14 94097287 94097287 G A snp 2045.77 0/1 99 182 89 93 0.51 intronic rs2148563 UNC79 AU NM_020818 exon31 c.153268+33G>A 0.679712 0.3859 0.750115 0.6814 0.3958 Uncertain 14_94103342_G->A 14 94103342 94103342 G A snp 43.77 0/1 70 4 2 2 0.5 intronic rs117378204 UNC79 AU NM_020818 exon33 c.159575-219G>A 0.000399361 0.002 Uncertain 14_94103602_G->A 14 94103602 94103602 G A snp 2747.77 0/1 99 244 124 120 0.49 exonic rs4905082 UNC79 AU synonymous SNV NM_020818 exon33 c.G5343A p.T1781T 0.505192 0.3849 0.577964 0.6074 0.3930 Uncertain 14_94109829_G->A 14 94109829 94109829 G A snp 184.77 0/1 99 19 10 9 0.47 intronic rs943318 UNC79 AU NM_020818 exon35 c.165916-73G>A 0.538139 0.3938 Uncertain 14_94149165_C->T 14 94149165 94149165 C T snp 212.77 0/1 99 19 12 7 0.37 intronic UNC79 AU NM_020818 exon43 c.205054+125C>T Uncertain 14_94391699_G->A 14 94391699 94391699 G A snp 2597.77 1/1 99 98 0 98 1.0 exonic rs10141024 FAM181A AU nonsynonymous SNV NM_138344 exon2 c.G82A p.A28T 0.501797 0.6409 0.506997 0.5038 0.6197 0.2 T 0.0 P -0.980 T 0.0 T 0.0 T Pathogenic 14_94391847_G->C 14 94391847 94391847 G C snp 216.84 1/1 18 6 0 6 1.0 ncRNA_intronic rs11160153 FAM181A-AS1 AU 0.489816 0.6409 Uncertain 14_94400906_G->A 14 94400906 94400906 G A snp 392.77 1/1 30 12 0 12 1.0 UTR3 rs12370 ASB2 AU 0.317891 0.6032 Uncertain 14_94403973_C->T 14 94403973 94403973 C T snp 1169.77 1/1 87 32 0 32 1.0 intronic rs56003871 ASB2 AU NM_001202429 exon2 c.3042-70C>T 0.34385 0.5982 Uncertain 14_94404217_G->C 14 94404217 94404217 G C snp 3518.77 1/1 99 127 0 127 1.0 intronic rs34365480 ASB2 AU NM_001202429 exon2 c.3196+20G>C 0.344848 0.6042 0.222205 0.2697 0.5803 Uncertain 14_94405871_G->C 14 94405871 94405871 G C snp 4652.77 1/1 99 166 0 166 1.0 exonic rs10873442 ASB2 AU synonymous SNV NM_016150 exon6 c.C1056G p.A352A 0.803914 0.9008 0.846062 0.8052 0.9048 Uncertain 14_94406096_A->C 14 94406096 94406096 A C snp 312.78 1/1 24 11 0 11 1.0 intronic rs7155320 ASB2 AU NM_001202429 exon3 c.5017+78A>C 0.803914 0.9008 Uncertain 14_94410276_A->- 14 94410276 94410276 A - indel 2773.73 1/1 99 74 0 74 1.0 intronic rs35894364 ASB2 AU NM_001202429 exon4 c.12693-3418delA 0.321286 0.5972 0.3243 0.5672 Uncertain 14_94410447_T->C 14 94410447 94410447 T C snp 752.77 1/1 54 29 0 29 1.0 intronic rs10134105 ASB2 AU NM_001202429 exon4 c.12693-3247T>C 0.814297 0.9008 Uncertain 14_94417421_G->A 14 94417421 94417421 G A snp 6556.77 1/1 99 248 0 248 1.0 exonic rs7147919 ASB2 AU synonymous SNV NM_016150 exon4 c.C660T p.N220N 0.555112 0.7817 0.558742 0.6053 0.7946 Uncertain 14_94417541_A->G 14 94417541 94417541 A G snp 2576.77 1/1 99 85 0 85 1.0 exonic rs4277287 ASB2 AU synonymous SNV NM_016150 exon4 c.T540C p.N180N 0.811901 0.8988 0.837613 0.8193 0.9076 Uncertain 14_94417586_G->A 14 94417586 94417586 G A snp 1270.77 1/1 96 41 0 41 1.0 exonic rs4483793 ASB2 AU synonymous SNV NM_016150 exon4 c.C495T p.C165C 0.580072 0.7817 0.585960 0.6156 0.7951 Uncertain 14_94417675_A->C 14 94417675 94417675 A C snp 264.8 1/1 21 7 0 7 1.0 intronic rs4433745 ASB2 AU NM_001202429 exon5 c.16589+85A>C 0.565495 0.7798 Uncertain 14_94419888_A->G 14 94419888 94419888 A G snp 518.77 1/1 39 15 0 15 1.0 intronic rs4243701 ASB2 AU NM_001202429 exon6 c.18852+35A>G 0.92472 0.998 0.918345 0.8914 0.9994 Uncertain 14_94423294_T->C 14 94423294 94423294 T C snp 2676.77 1/1 99 95 0 95 1.0 UTR5 rs3765494 ASB2 AU 0.267772 0.6022 0.142550 0.1806 0.6196 Uncertain 14_94423327_-->GACA 14 94423327 94423327 - GACA indel 4313.73 1/1 99 81 0 81 1.0 UTR5 rs3835252 ASB2 AU 0.204872 0.6141 0.060064 0.1064 0.6080 Uncertain 14_94464432_A->G 14 94464432 94464432 A G snp 3372.77 1/1 99 126 0 126 1.0 ncRNA_exonic rs733166 LINC00521 AU 0.753195 0.9812 Uncertain 14_94464489_G->A 14 94464489 94464489 G A snp 3351.77 1/1 99 136 1 135 0.99 ncRNA_exonic rs10142728 LINC00521 AU 0.279952 0.6171 0.136552 0.1568 0.6104 Uncertain 14_94466081_C->G 14 94466081 94466081 C G snp 1636.77 1/1 99 58 0 58 1.0 ncRNA_intronic rs4905137 LINC00521 AU 0.680711 0.9782 Uncertain 14_94467549_C->T 14 94467549 94467549 C T snp 3662.77 1/1 99 132 0 132 1.0 ncRNA_exonic rs60333700 LINC00521 AU 0.276158 0.5823 0.131555 0.1478 0.5676 Uncertain 14_94469801_A->G 14 94469801 94469801 A G snp 227.77 0/1 99 17 8 9 0.53 ncRNA_intronic rs12890024 LINC00521 AU 0.384585 0.3948 Uncertain 14_94503545_T->C 14 94503545 94503545 T C snp 178.9 1/1 15 5 0 5 1.0 intronic rs2273225 OTUB2 AU NM_023112 exon2 c.10842-180T>C 0.451278 0.3512 Uncertain 14_94505283_C->G 14 94505283 94505283 C G snp 4033.77 1/1 99 148 0 148 1.0 intronic rs2295216 OTUB2 AU NM_023112 exon3 c.12425-25C>G 0.259585 0.3651 0.198447 0.2371 0.3869 Uncertain 14_94510964_T->C 14 94510964 94510964 T C snp 4270.77 1/1 99 143 0 143 1.0 exonic rs2273226 OTUB2 AU synonymous SNV NM_023112 exon5 c.T336C p.D112D 0.490216 0.4306 0.502230 0.4459 0.4648 Uncertain 14_94512415_T->C 14 94512415 94512415 T C snp 490.77 1/1 39 13 0 13 1.0 UTR3 rs8021300 OTUB2 AU 0.572085 0.4395 Uncertain 14_94517533_-->CACGG 14 94517533 94517533 - CACGG indel 1092.73 1/1 42 14 0 14 1.0 UTR3 rs112814907 DDX24 AU 0.306709 0.3343 0.298226 0.3311 0.3589 Uncertain 14_94519199_C->T 14 94519199 94519199 C T snp 484.77 1/1 36 17 0 17 1.0 intronic rs3790045 DDX24 AU NM_020414 exon2 c.1807-144C>T 0.491813 0.4315 Uncertain 14_94524216_T->C 14 94524216 94524216 T C snp 1550.77 1/1 99 56 0 56 1.0 exonic rs1056810 DDX24 AU synonymous SNV NM_020414 exon6 c.A1941G p.A647A 0.294329 0.3264 0.297939 0.3271 0.3522 Uncertain 14_94524394_G->A 14 94524394 94524394 G A snp 56.74 1/1 6 2 0 2 1.0 intronic rs2180081 DDX24 AU NM_020414 exon4 c.6707+151G>A 0.300319 0.3254 Uncertain 14_94527525_C->T 14 94527525 94527525 C T snp 1353.77 1/1 99 44 0 44 1.0 intronic rs11846519 DDX24 AU NM_020414 exon6 c.9876+113C>T 0.535144 0.4315 Uncertain 14_94529082_C->T 14 94529082 94529082 C T snp 99.28 1/1 9 3 0 3 1.0 intronic rs3748328 DDX24 AU NM_020414 exon7 c.11431+115C>T 0.278355 0.3224 Uncertain 14_94554550_T->G 14 94554550 94554550 T G snp 2276.77 1/1 99 75 0 75 1.0 intronic rs998518 IFI27L1 AU 0.649161 0.9554 Uncertain 14_94554848_-->TTC 14 94554848 94554848 - TTC indel 234.8 1/1 18 8 0 8 1.0 intronic rs10622358 IFI27L1 AU 0.353435 0.7073 Uncertain 14_94563064_T->C 14 94563064 94563064 T C snp 241.8 1/1 21 8 0 8 1.0 intronic rs56294923 IFI27L1 AU 0.321685 0.506 Uncertain 14_94563193_T->C 14 94563193 94563193 T C snp 2908.77 1/1 99 110 1 109 0.99 UTR5 rs7157940 IFI27L1 AU 0.704473 0.9544 0.6294 0.9598 Uncertain 14_94563438_-->G 14 94563438 94563438 - G indel 189.87 1/1 15 5 0 5 1.0 intronic rs11421421 IFI27L1 AU NM_206949 exon2 c.28+127insG 0.723243 0.9563 Uncertain 14_94564035_A->G 14 94564035 94564035 A G snp 2754.77 1/1 99 95 0 95 1.0 intronic rs2896258 IFI27L1 AU NM_206949 exon2 c.28+724A>G 0.71865 0.9573 0.6825 0.9627 Uncertain 14_94566967_G->T 14 94566967 94566967 G T snp 215.84 1/1 18 7 0 7 1.0 intronic rs3818118 IFI27L1 AU NM_206949 exon3 c.3801-117G>T 0.165335 0.4772 Uncertain 14_94567032_C->T 14 94567032 94567032 C T snp 967.77 1/1 72 34 0 34 1.0 intronic rs3818119 IFI27L1 AU NM_206949 exon3 c.3801-52C>T 0.715855 0.9524 0.552562 Uncertain 14_94568776_C->T 14 94568776 94568776 C T snp 934.77 1/1 69 29 0 29 1.0 intronic rs2295217 IFI27L1 AU NM_206949 exon5 c.5539-46C>T 0.239217 0.4772 0.201061 0.2499 0.5069 Uncertain 14_94582075_-->G 14 94582075 94582075 - G indel 153.73 0/1 99 12 5 7 0.58 intronic rs3833508 IFI27 AU NM_001288958 exon4 c.4098-51insG 0.110224 0.1062 0.088103 Uncertain 14_94582130_-->GGCCATGGC 14 94582130 94582130 - GGCCATGGC indel 2433.73 0/1 99 52 30 22 0.42 exonic;splicing rs3064076 IFI27;IFI27 UN nonframeshift insertion NM_001288957 exon4 c.125_126insGGCCATGGC p.V42delinsVAMA 0.657748 0.5486 0.652213 0.6009 0.5668 Uncertain 14_94594768_T->G 14 94594768 94594768 T G snp 1484.77 0/1 99 82 30 52 0.63 intronic rs958187 IFI27L2 AU NM_032036 exon2 c.715-82T>G 0.78095 0.5575 Uncertain 14_94696809_AT->- 14 94696809 94696810 AT - indel 367.75 1/1 24 8 0 8 1.0 intronic rs3833506 PPP4R4 AU NM_058237 exon4 c.56121-114_56121-113delAT 0.300919 0.6032 Uncertain 14_94697192_G->A 14 94697192 94697192 G A snp 915.77 1/1 69 23 0 23 1.0 intronic rs35773091 PPP4R4 AU NM_058237 exon4 c.56269+121G>A 0.296326 0.6022 Uncertain 14_94700138_C->G 14 94700138 94700138 C G snp 1331.77 1/1 96 45 0 45 1.0 intronic rs4905172 PPP4R4 AU NM_058237 exon6 c.59294+42C>G 0.991214 1 0.972372 0.9714 1 Uncertain 14_94708494_C->T 14 94708494 94708494 C T snp 1782.77 1/1 99 45 0 45 1.0 intronic rs12431501 PPP4R4 AU NM_058237 exon11 c.67823-131C>T 0.300719 0.6022 Uncertain 14_94716388_G->A 14 94716388 94716388 G A snp 649.77 1/1 48 20 0 20 1.0 intronic rs4905173 PPP4R4 AU NM_058237 exon15 c.75706-120G>A 0.324081 0.6032 Uncertain 14_94722748_T->C 14 94722748 94722748 T C snp 301.78 1/1 24 12 0 12 1.0 intronic rs6575402 PPP4R4 AU NM_058237 exon17 c.81994-48T>C 0.324281 0.6032 0.223496 0.2249 0.5786 Uncertain 14_94722764_C->A 14 94722764 94722764 C A snp 395.77 1/1 30 15 0 15 1.0 intronic rs6575403 PPP4R4 AU NM_058237 exon17 c.81994-32C>A 0.610423 0.6548 0.516303 0.4900 0.6522 Uncertain 14_94724949_T->C 14 94724949 94724949 T C snp 706.77 1/1 51 28 0 28 1.0 intronic rs2180399 PPP4R4 AU NM_058237 exon18 c.84317-170T>C 0.324281 0.6032 Uncertain 14_94725394_A->T 14 94725394 94725394 A T snp 46.74 1/1 6 2 0 2 1.0 intronic rs2896265 PPP4R4 AU NM_058237 exon18 c.84359+233A>T 0.324081 0.6022 Uncertain 14_94731490_C->T 14 94731490 94731490 C T snp 50.74 1/1 6 2 0 2 1.0 intronic rs17129529 PPP4R4 AU NM_058237 exon20 c.90482+206C>T 0.185703 0.5883 Uncertain 14_94731910_A->G 14 94731910 94731910 A G snp 1845.77 1/1 99 51 0 51 1.0 intronic rs1107110 PPP4R4 AU NM_058237 exon21 c.91008+100A>G 0.292732 0.6032 Uncertain 14_94732107_T->C 14 94732107 94732107 T C snp 2560.77 1/1 99 99 0 99 1.0 intronic rs3827899 PPP4R4 AU NM_058237 exon22 c.91328-23T>C 0.627995 0.6548 0.530760 0.4929 0.6541 Uncertain 14_94733474_A->T 14 94733474 94733474 A T snp 143.03 1/1 12 5 0 5 1.0 intronic rs1950644 PPP4R4 AU NM_058237 exon23 c.92564+108A>T 0.324281 0.6032 Uncertain 14_94745083_-->T 14 94745083 94745083 - T indel 330.73 1/1 42 22 0 22 1.0 UTR3 rs397937887 PPP4R4 AU 0.327077 0.503 Uncertain 14_94750292_G->A 14 94750292 94750292 G A snp 3697.77 1/1 99 132 0 132 1.0 UTR3 rs1950641 SERPINA10 AU 0.326278 0.6042 0.229971 0.2280 0.5910 Uncertain 14_94756119_C->T 14 94756119 94756119 C T snp 2735.77 1/1 99 90 0 90 1.0 intronic rs2232704 SERPINA10 AU NM_016186 exon4 c.5911-93C>T 0.466653 0.6329 Uncertain 14_94756450_T->A 14 94756450 94756450 T A snp 4362.77 1/1 99 155 0 155 1.0 exonic rs2232700 SERPINA10 AU nonsynonymous SNV NM_016186 exon2 c.A481T p.T161S 0.286741 0.6042 0.184992 0.2142 0.5901 0.86 T 0.0 P -1.079 T 0.0 T 0.001 T Pathogenic 14_94756750_T->C 14 94756750 94756750 T C snp 4069.77 1/1 99 139 0 139 1.0 exonic rs941591 SERPINA10 AU nonsynonymous SNV NM_016186 exon2 c.A181G p.S61G 0.344848 0.6052 0.243119 0.2313 0.5903 0.33 T 0.0 P -0.977 T 0.0 T 0.0 T Pathogenic 14_94756794_T->C 14 94756794 94756794 T C snp 2629.77 1/1 99 96 0 96 1.0 exonic rs941590 SERPINA10 AU nonsynonymous SNV NM_016186 exon2 c.A137G p.K46R 0.627995 0.6558 0.533215 0.4931 0.6521 0.53 T 0.0 P -0.948 T 0.0 T 0.0 T Pathogenic 14_94770990_G->A 14 94770990 94770990 G A snp 474.77 0/1 99 26 8 18 0.69 intronic rs2273399 SERPINA6 AR,AD NM_001756 exon1 c.186+50G>A 0.221645 0.4276 0.122251 0.1474 0.3904 Uncertain 14_94776221_A->C 14 94776221 94776221 A C snp 7272.77 1/1 99 245 1 244 1.0 exonic rs2228541 SERPINA6 AR,AD nonsynonymous SNV NM_001756 exon3 c.T736G p.S246A 0.598043 0.9325 0.430571 0.5247 0.9322 0.07 T 0.0 P -0.902 T 0.001 T 0.01 T ID=CM045664;DIS=Higher CBG levels;TAG=FP;PUB=15554358 FP Pathogenic 14_94776401_T->C 14 94776401 94776401 T C snp 1157.77 1/1 84 36 0 36 1.0 intronic rs11160168 SERPINA6 AR,AD NM_001756 exon3 c.5589+58T>C 0.782548 0.9921 Uncertain 14_94776441_C->A 14 94776441 94776441 C A snp 733.77 1/1 54 23 0 23 1.0 intronic rs11160169 SERPINA6 AR,AD NM_001756 exon3 c.5589+98C>A 0.591254 0.9325 Uncertain 14_94830555_C->T 14 94830555 94830555 C T snp 149.77 0/1 99 12 7 5 0.42 intronic rs3819333 SERPINA2 AU NM_006220 exon2 c.602-97C>T 0.238618 0.3075 Uncertain 14_94831028_G->C 14 94831028 94831028 G C snp 357.77 0/1 99 23 11 12 0.52 intronic rs34362280 SERPINA2 AU NM_006220 exon2 c.875+103G>C 0.346046 0.6369 Uncertain 14_94833033_T->C 14 94833033 94833033 T C snp 4830.77 1/1 99 155 0 155 1.0 exonic rs1956172 SERPINA2 AU unknown 0.775359 0.9851 Uncertain 14_94844843_T->G 14 94844843 94844843 T G snp 1805.77 0/1 99 163 90 73 0.45 exonic rs1303 SERPINA1 AR,AU nonsynonymous SNV NM_000295 exon5 c.A1200C p.E400D 0.280351 0.3165 0.207135 0.2747 0.2787 1 T 0.0 P -0.918 T 0.0 T 0.01 T CLINSIG=other|non-pathogenic;CLNDBN=PI_M3|not_specified;CLNREVSTAT=no_assertion_criteria_provided|criteria_provided\x2c_single_submitter;CLNACC=RCV000019558.1|RCV000155574.1;CLNDSDB=.|MedGen;CLNDSDBID=.|CN169374 Pathogenic 14_94849201_C->T 14 94849201 94849201 C T snp 1305.77 0/1 99 126 69 57 0.45 exonic rs709932 SERPINA1 AR,AU nonsynonymous SNV NM_000295 exon2 c.G374A p.R125H 0.160543 0.2282 0.121559 0.1631 0.2041 0.97 T 0.0 P -1.077 T 0.0 T 0.001 T CLINSIG=other|other|non-pathogenic;CLNDBN=PI_M2|PI_M4|not_specified;CLNREVSTAT=no_assertion_criteria_provided|no_assertion_criteria_provided|criteria_provided\x2c_single_submitter;CLNACC=RCV000019557.1|RCV000019559.1|RCV000155576.1;CLNDSDB=.|.|MedGen;CLNDSDBID=.|.|CN169374 ID=CM900182;DIS=Antitrypsin M2 variant;TAG=FP;PUB=2339709 FP Pathogenic 14_94909630_C->T 14 94909630 94909630 C T snp 2514.77 1/1 99 92 0 92 1.0 intronic rs3818257 SERPINA11 AU NM_001080451 exon2 c.620+68C>T 0.798323 0.6429 Uncertain 14_94909748_T->C 14 94909748 94909748 T C snp 40.77 0/1 33 3 1 2 0.67 intronic rs75682319 SERPINA11 AU NM_001080451 exon2 c.620+186T>C 0.061901 0.0109 Uncertain 14_94912799_G->A 14 94912799 94912799 G A snp 1155.77 0/1 99 114 63 51 0.45 exonic rs12888805 SERPINA11 AU synonymous SNV NM_001080451 exon3 c.C786T p.T262T 0.259784 0.1815 0.316162 0.3649 0.1798 Uncertain 14_94912896_T->G 14 94912896 94912896 T G snp 1397.77 0/1 99 122 66 56 0.46 exonic rs1885137 SERPINA11 AU nonsynonymous SNV NM_001080451 exon3 c.A689C p.E230A 0.260383 0.1835 0.316162 0.3653 0.1827 0.17 T 0.0 P -0.979 T 0.11 T 0.098 T Pathogenic 14_94914455_A->T 14 94914455 94914455 A T snp 106.77 0/1 99 15 9 6 0.4 intronic rs10129672 SERPINA11 AU NM_001080451 exon4 c.5526-13A>T 0.741414 0.63 0.735660 0.7264 0.6115 Uncertain 14_94915172_A->G 14 94915172 94915172 A G snp 354.77 0/1 99 32 15 17 0.53 intronic rs17825331 SERPINA11 AU NM_001080451 exon4 c.6172+58A>G 0.0617013 0.0109 Uncertain 14_94929541_G->A 14 94929541 94929541 G A snp 1172.77 0/1 99 127 76 51 0.4 exonic rs2224418 SERPINA9 AU synonymous SNV NM_001284275 exon5 c.C1089T p.G363G 0.676118 0.6478 0.718040 0.7771 0.6219 Uncertain 14_94930980_A->G 14 94930980 94930980 A G snp 689.77 0/1 99 50 22 28 0.56 intronic rs11628686 SERPINA9 AU NM_175739 exon2 c.1614-63A>G 0.350639 0.1815 Uncertain 14_94931016_T->G 14 94931016 94931016 T G snp 1089.77 0/1 99 83 39 44 0.53 intronic rs8020984 SERPINA9 AU NM_175739 exon2 c.1614-27T>G 0.8123 0.6468 0.839621 0.8177 0.6247 Uncertain 14_94931105_A->G 14 94931105 94931105 A G snp 1519.77 0/1 99 168 101 67 0.4 exonic rs11628722 SERPINA9 AU nonsynonymous SNV NM_001284275 exon4 c.T935C p.V312A 0.676118 0.6468 0.719167 0.7773 0.6217 0.71 T 0.0 P -0.961 T 0.001 T 0.011 T Pathogenic 14_94933390_C->T 14 94933390 94933390 C T snp 188.77 0/1 99 14 7 7 0.5 intronic rs7149309 SERPINA9 AU NM_175739 exon3 c.4016-55C>T 0.218251 0.2877 Uncertain 14_94933709_C->T 14 94933709 94933709 C T snp 1456.77 0/1 99 98 36 62 0.63 exonic rs6575433 SERPINA9 AU synonymous SNV NM_001284275 exon3 c.G585A p.E195E 0.346645 0.1825 0.441055 0.4620 0.1817 Uncertain 14_94935513_AAAT->- 14 94935513 94935516 AAAT - indel 1791.73 0/1 99 58 26 32 0.55 intronic rs141362535 SERPINA9 AU NM_175739 exon4 c.6120-36_6120-33delAAAT 0.0167732 0.0813 0.000801 0.0093 0.1160 Uncertain 14_94956228_C->A 14 94956228 94956228 C A snp 56.74 1/1 6 2 0 2 1.0 intronic rs3736804 SERPINA12 AU NM_001304461 exon2 c.2465+124C>A 0.0986422 0.125 Uncertain 14_95028020_C->T 14 95028020 95028020 C T snp 1528.77 0/1 99 110 53 57 0.52 UTR5 rs910352 SERPINA4 AU 0.346446 0.5258 0.3530 0.5 Uncertain 14_95033275_T->G 14 95033275 95033275 T G snp 394.77 0/1 99 39 21 18 0.46 intronic rs1005348 SERPINA4 AU NM_001289032 exon3 c.5254-31T>G 0.300719 0.2867 0.269952 0.2658 0.2679 Uncertain 14_95033356_C->T 14 95033356 95033356 C T snp 1029.77 0/1 99 85 39 46 0.54 exonic rs5510 SERPINA4 AU synonymous SNV NM_001289032 exon3 c.C810T p.F270F 0.300519 0.2867 0.269568 0.2656 0.2670 Uncertain 14_95033595_A->T 14 95033595 95033595 A T snp 861.77 0/1 99 57 19 38 0.67 intronic rs5511 SERPINA4 AU NM_001289032 exon3 c.5528+15A>T 0.260783 0.2659 0.229237 0.2380 0.2427 Uncertain 14_95033671_A->T 14 95033671 95033671 A T snp 439.77 0/1 99 25 9 16 0.64 intronic rs3827893 SERPINA4 AU NM_001289032 exon3 c.5528+91A>T 0.469649 0.4226 Uncertain 14_95033681_A->G 14 95033681 95033681 A G snp 302.77 0/1 99 17 7 10 0.59 intronic rs10133253 SERPINA4 AU NM_001289032 exon3 c.5528+101A>G 0.300719 0.2867 Uncertain 14_95033708_A->C 14 95033708 95033708 A C snp 118.77 0/1 99 9 4 5 0.56 intronic rs17091071 SERPINA4 AU NM_001289032 exon3 c.5528+128A>C 0.300719 0.2867 Uncertain 14_95034342_T->A 14 95034342 95034342 T A snp 1475.77 0/1 99 64 19 45 0.7 intronic rs2070777 SERPINA4 AU NM_001289032 exon4 c.6413-123T>A 0.465855 0.4226 Uncertain 14_95053849_T->C 14 95053849 95053849 T C snp 1344.77 0/1 99 138 83 55 0.4 exonic rs6113 SERPINA5 AU synonymous SNV NM_000624 exon3 c.T150C p.F50F 0.27516 0.2798 0.235737 0.1502 0.2848 Uncertain 14_95053863_C->T 14 95053863 95053863 C T snp 1241.77 0/1 99 141 87 54 0.38 exonic rs6118 SERPINA5 AU nonsynonymous SNV NM_000624 exon3 c.C164T p.A55V 0.275958 0.2758 0.235276 0.1506 0.2834 0.16 T 0.0 P -0.903 T 0.82 T 0.162 P Pathogenic 14_95053890_G->A 14 95053890 95053890 G A snp 1395.77 0/1 99 133 78 55 0.41 exonic rs6115 SERPINA5 AU nonsynonymous SNV NM_000624 exon3 c.G191A p.S64N 0.621206 0.4266 0.739582 0.6152 0.4345 1 T 0.000 P -0.943 T 0.0 T 0.0 T ID=CM138902;DIS=Stroke, paediatic;TAG=DM?;PUB=23670045 DM? Pathogenic 14_95053891_C->T 14 95053891 95053891 C T snp 1379.77 0/1 99 133 78 55 0.41 exonic rs6111 SERPINA5 AU synonymous SNV NM_000624 exon3 c.C192T p.S64S 0.272764 0.2748 0.222897 0.1489 0.2803 Uncertain 14_95054012_A->G 14 95054012 95054012 A G snp 2531.77 0/1 99 236 128 108 0.46 exonic rs6119 SERPINA5 AU nonsynonymous SNV NM_000624 exon3 c.A313G p.K105E 0.26897 0.25 0.236276 0.1488 0.2661 1 T 0.0 P -0.955 T 0.0 T 0.0 T Pathogenic 14_95054176_T->C 14 95054176 95054176 T C snp 3284.77 0/1 99 249 122 127 0.51 exonic rs6112 SERPINA5 AU synonymous SNV NM_000624 exon3 c.T477C p.P159P 0.618011 0.4087 0.742350 0.6157 0.4243 Uncertain 14_95057270_G->A 14 95057270 95057270 G A snp 755.77 0/1 99 60 24 36 0.6 intronic rs6107 SERPINA5 AU NM_000624 exon5 c.3534+37G>A 0.630591 0.4067 0.779640 0.6552 0.4193 Uncertain 14_95058360_A->G 14 95058360 95058360 A G snp 261.77 0/1 99 18 10 8 0.44 intronic rs6109 SERPINA5 AU NM_000624 exon6 c.4694-33A>G 0.63099 0.4067 0.779640 0.6571 0.4213 Uncertain 14_95058737_G->A 14 95058737 95058737 G A snp 37.77 0/1 66 4 2 2 0.5 UTR3 rs2067060 SERPINA5 AU 0.117812 0.0823 Uncertain 14_95078677_G->T 14 95078677 95078677 G T snp 1310.77 0/1 99 131 72 59 0.45 upstream rs1884082 SERPINA3 AU 0.446685 0.6429 0.450105 0.5041 0.6499 ID=CR013120;DIS=Increased plasma ACT concentration;TAG=DFP;PUB=11702211 DFP Uncertain 14_95080803_G->A 14 95080803 95080803 G A snp 1369.77 0/1 99 124 65 59 0.48 exonic rs4934 SERPINA3 AU nonsynonymous SNV NM_001085 exon2 c.G25A p.A9T 0.399361 0.62 0.402199 0.4480 0.6102 0.37 T 0.0 P -0.971 T 0.297 T 0.135 T CLINSIG=non-pathogenic;CLNDBN=ANTICHYMOTRYPSIN_SIGNAL_PEPTIDE_POLYMORPHISM;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000019667.1;CLNDSDB=.;CLNDSDBID=. ID=CM950001;DIS=Alzheimer disease, association with;TAG=DP;PUB=7670501 DP Pathogenic 14_95085465_C->G 14 95085465 95085465 C G snp 370.77 0/1 99 30 15 15 0.5 intronic rs8004988 SERPINA3 AU NM_001085 exon3 c.4753-66C>G 0.445887 0.3373 Uncertain 14_95088894_G->T 14 95088894 95088894 G T snp 111.77 0/1 60 6 2 4 0.67 intronic rs80150124 SERPINA3 AU NM_001085 exon4 c.8050+66G>T 0.0565096 0.1746 Uncertain 14_95107973_C->T 14 95107973 95107973 C T snp 1053.77 0/1 99 85 45 40 0.47 ncRNA_exonic rs4905226 SERPINA13P AU 0.171725 0.1528 0.204168 0.2251 0.1388 Uncertain 14_95235358_G->A 14 95235358 95235358 G A snp 1593.77 0/1 99 209 130 79 0.38 exonic rs117555620 GSC AR synonymous SNV NM_173849 exon2 c.C552T p.Y184Y 0.00798722 0.0397 0.000154 0.0072 0.0816 ID=CM0910845;DIS=Microtia;TAG=DM?;PUB=19935299 DM? Uncertain 14_95566047_C->T 14 95566047 95566047 C T snp 141.77 0/1 99 14 9 5 0.36 intronic rs150735192 DICER1 AU,AD NM_030621 exon6 c.9282-69C>T 0.00259585 0.0129 Uncertain 14_95566069_ACAC->- 14 95566069 95566072 ACAC - indel 2362.73 ./1 99 20 0 20 1.0 intronic rs199891759 DICER1 AU,AD NM_030621 exon6 c.9282-47_9282-44delACAC 0.0042 0.0007 Uncertain 14_95566069_ACACACACACACAC->- 14 95566069 95566082 ACACACACACACAC - indel 2362.73 ./1 99 20 0 20 1.0 intronic rs201969638 DICER1 AU,AD NM_030621 exon6 c.9282-47_9282-34delACACACACACACAC 0.0728 0.0481 Uncertain 14_95566108_C->A 14 95566108 95566108 C A snp 1697.77 1/1 99 61 0 61 1.0 intronic rs1778057 DICER1 AU,AD NM_030621 exon6 c.9282-8C>A 0.870008 0.9554 0.0394 0.0108 Uncertain 14_95578675_T->C 14 95578675 95578675 T C snp 1833.77 0/1 99 150 76 74 0.49 intronic rs2297730 DICER1 AU,AD NM_030621 exon15 c.21750+91T>C 0.24401 0.3542 Uncertain 14_95591070_G->A 14 95591070 95591070 G A snp 248.77 0/1 99 28 15 13 0.46 intronic rs67737119 DICER1 AU,AD NM_030621 exon20 c.34171+65G>A 0.140575 0.3522 Uncertain 14_95596279_G->A 14 95596279 95596279 G A snp 83.77 0/1 69 5 2 3 0.6 intronic rs1953535 DICER1 AU,AD NM_030621 exon23 c.39560-115G>A 0.154153 0.3532 Uncertain 14_95659481_T->A 14 95659481 95659481 T A snp 40.77 0/1 33 4 1 3 0.75 intronic rs10142477 CLMN AU NM_024734 exon2 c.2285-704T>A 0.243011 0.3274 Uncertain 14_95659747_C->T 14 95659747 95659747 C T snp 601.77 0/1 99 61 38 23 0.38 intronic rs3180753 CLMN AU NM_024734 exon2 c.2285-438C>T 0.232029 0.3304 Uncertain 14_95660242_A->G 14 95660242 95660242 A G snp 2542.77 0/1 99 227 116 111 0.49 exonic rs1128468 CLMN AU synonymous SNV NM_024734 exon12 c.T2784C p.Y928Y 0.151158 0.3333 0.087498 0.1200 0.3795 Uncertain 14_95660981_A->G 14 95660981 95660981 A G snp 1985.77 0/1 99 197 110 87 0.44 intronic rs2282274 CLMN AU NM_024734 exon3 c.3033+48A>G 0.151158 0.3433 0.085730 0.1174 0.3818 Uncertain 14_95661028_G->A 14 95661028 95661028 G A snp 1262.77 0/1 99 108 58 50 0.46 intronic rs2282275 CLMN AU NM_024734 exon3 c.3033+95G>A 0.173522 0.3442 Uncertain 14_95661129_T->C 14 95661129 95661129 T C snp 38.77 0/1 67 5 3 2 0.4 intronic rs2282276 CLMN AU NM_024734 exon3 c.3033+196T>C 0.184904 0.3492 Uncertain 14_95670804_-->A 14 95670804 95670804 - A indel 1017.73 1/1 99 48 0 48 1.0 splicing rs5810715 CLMN AU NM_024734 exon5 c.12900+4insA 0.339856 0.4345 0.267143 0.2501 0.4467 Pathogenic 14_95670886_A->G 14 95670886 95670886 A G snp 93.28 1/1 9 3 0 3 1.0 intronic rs1763729 CLMN AU NM_024734 exon5 c.12900+86A>G 0.348442 0.4306 Uncertain 14_95670887_T->G 14 95670887 95670887 T G snp 93.28 1/1 9 3 0 3 1.0 intronic rs1763730 CLMN AU NM_024734 exon5 c.12900+87T>G 0.348442 0.4306 Uncertain 14_95677280_T->C 14 95677280 95677280 T C snp 212.84 1/1 18 7 0 7 1.0 intronic rs1187604 CLMN AU NM_024734 exon7 c.19316+64T>C 0.221446 0.4306 Uncertain 14_95786115_C->T 14 95786115 95786115 C T snp 2749.77 0/1 99 230 105 125 0.54 exonic rs80288032 CLMN AU synonymous SNV NM_024734 exon1 c.G15A p.E5E 0.197284 0.4603 0.053206 0.1021 0.4476 Uncertain 14_95875342_C->T 14 95875342 95875342 C T snp 369.77 0/1 99 20 8 12 0.6 ncRNA_exonic rs3742345 LINC00341 AU 0.183506 0.2788 Uncertain 14_95884323_G->A 14 95884323 95884323 G A snp 267.77 0/1 99 24 14 10 0.42 exonic rs12434757 SYNE3 AU nonsynonymous SNV NM_152592 exon17 c.C2768T p.A923V 0.55012 0.5 0.624327 0.6173 0.4756 1 T 1.0 P -0.944 T 0.0 T 0.003 T Pathogenic 14_95898487_G->A 14 95898487 95898487 G A snp 1148.77 0/1 99 121 67 54 0.45 intronic rs1187747 SYNE3 AU NM_152592 exon2 c.14292+33G>A 0.428714 0.2867 0.6528 0.4186 Uncertain 14_95898607_A->G 14 95898607 95898607 A G snp 1268.77 0/1 99 112 55 57 0.51 intronic rs17092197 SYNE3 AU NM_152592 exon2 c.14292+153A>G 0.36242 0.129 Uncertain 14_95898675_G->A 14 95898675 95898675 G A snp 434.77 0/1 99 31 17 14 0.45 intronic rs8015054 SYNE3 AU NM_152592 exon2 c.14292+221G>A 0.391374 0.1419 Uncertain 14_95903027_G->C 14 95903027 95903027 G C snp 192.77 0/1 99 11 4 7 0.64 intronic rs729667 SYNE3 AU NM_152592 exon4 c.18994-129G>C 0.601837 0.625 Uncertain 14_95905695_C->T 14 95905695 95905695 C T snp 50.74 1/1 6 2 0 2 1.0 intronic rs17092230 SYNE3 AU NM_152592 exon5 c.21337+196C>T 0.41893 0.6409 Uncertain 14_95905840_C->T 14 95905840 95905840 C T snp 628.77 1/1 48 17 0 17 1.0 intronic rs17092236 SYNE3 AU NM_152592 exon6 c.21786-108C>T 0.415136 0.6399 Uncertain 14_95906321_G->A 14 95906321 95906321 G A snp 4536.77 1/1 99 163 0 163 1.0 exonic rs9671369 SYNE3 AU nonsynonymous SNV NM_152592 exon11 c.C2003T p.T668M 0.41254 0.6399 0.322390 0.4163 0.6603 0.12 T 0.006 P -0.912 T 0.999 D 0.939 D Pathogenic 14_95906441_A->G 14 95906441 95906441 A G snp 1566.77 1/1 99 53 0 53 1.0 intronic rs910791 SYNE3 AU NM_152592 exon7 c.22250+29A>G 0.608427 0.8185 0.514715 0.5748 0.8303 Uncertain 14_95906476_C->T 14 95906476 95906476 C T snp 830.77 1/1 63 24 0 24 1.0 intronic rs910790 SYNE3 AU NM_152592 exon7 c.22250+64C>T 0.412141 0.6409 Uncertain 14_95910821_C->A 14 95910821 95910821 C A snp 921.77 0/1 99 67 31 36 0.54 splicing rs751249792 SYNE3 AU NM_152592 exon9 c.26659C>A 8.539e-05 0.0012 0.959 D -1.074 T 0.999 D 0.991 D Pathogenic 14_95910933_T->C 14 95910933 95910933 T C snp 2669.77 0/1 99 222 108 114 0.51 exonic rs9919918 SYNE3 AU synonymous SNV NM_152592 exon9 c.A1665G p.A555A 0.28155 0.3155 0.234968 0.2397 0.3092 Uncertain 14_95910970_AG->- 14 95910970 95910971 AG - indel 4492.73 0/1 99 244 130 114 0.47 splicing rs36019358 SYNE3 AU NM_152592 exon9 c.26803+5_26803+6delAG 0.258466 0.3168 0.4703 Pathogenic 14_95911008_A->G 14 95911008 95911008 A G snp 3112.77 0/1 99 231 99 132 0.57 intronic rs9919887 SYNE3 AU NM_152592 exon9 c.26803+43A>G 0.275559 0.3095 0.227587 0.2425 0.3089 Uncertain 14_95911123_G->T 14 95911123 95911123 G T snp 516.77 0/1 99 27 10 17 0.63 intronic rs8007583 SYNE3 AU NM_152592 exon9 c.26803+158G>T 0.283946 0.3095 Uncertain 14_95916566_G->A 14 95916566 95916566 G A snp 415.77 0/1 99 31 14 17 0.55 intronic rs10148435 SYNE3 AU NM_152592 exon11 c.32280+124G>A 0.352835 0.3046 Uncertain 14_95918466_A->G 14 95918466 95918466 A G snp 278.77 0/1 99 28 17 11 0.39 intronic rs7144636 SYNE3 AU NM_152592 exon12 c.34421-117A>G 0.500599 0.5665 Uncertain 14_95918473_A->G 14 95918473 95918473 A G snp 462.77 0/1 99 37 21 16 0.43 intronic rs7144641 SYNE3 AU NM_152592 exon12 c.34421-110A>G 0.461262 0.5665 Uncertain 14_95918549_C->- 14 95918549 95918549 C - indel 2128.73 0/1 99 132 69 63 0.48 intronic rs11362194 SYNE3 AU NM_152592 exon12 c.34421-34delC 0.357228 0.4901 0.339856 0.4203 0.5163 Uncertain 14_95918625_T->C 14 95918625 95918625 T C snp 2442.77 0/1 99 211 101 110 0.52 exonic rs4905318 SYNE3 AU synonymous SNV NM_152592 exon6 c.A1233G p.P411P 0.460863 0.5655 0.411502 0.4587 0.5901 Uncertain 14_95918741_G->A 14 95918741 95918741 G A snp 921.77 0/1 99 64 32 32 0.5 intronic rs4905319 SYNE3 AU NM_152592 exon12 c.34558+21G>A 0.500599 0.5685 0.452022 0.4750 0.5857 Uncertain 14_95918745_C->T 14 95918745 95918745 C T snp 852.77 0/1 99 58 29 29 0.5 intronic rs4905320 SYNE3 AU NM_152592 exon12 c.34558+25C>T 0.461262 0.5685 0.411425 0.4612 0.5854 Uncertain 14_95918759_C->T 14 95918759 95918759 C T snp 636.77 0/1 99 38 16 22 0.58 intronic rs4905321 SYNE3 AU NM_152592 exon12 c.34558+39C>T 0.461262 0.5685 0.409734 0.4625 0.5876 Uncertain 14_95921741_C->T 14 95921741 95921741 C T snp 1031.77 0/1 99 94 50 44 0.47 exonic rs4905324 SYNE3 AU synonymous SNV NM_152592 exon5 c.G1110A p.E370E 0.455272 0.5516 0.427111 0.5222 0.5779 Uncertain 14_95923471_CTGTC->- 14 95923471 95923475 CTGTC - indel 4442.73 0/1 99 155 95 60 0.39 intronic rs146162422 SYNE3 AU NM_152592 exon14 c.39351-42_39351-38delCTGTC 0.453474 0.5526 0.394481 0.5154 0.5694 Uncertain 14_95923670_A->C 14 95923670 95923670 A C snp 1242.77 0/1 99 105 55 50 0.48 exonic rs2024863 SYNE3 AU synonymous SNV NM_152592 exon4 c.T633G p.R211R 0.624002 0.5813 0.588882 0.5720 0.6011 Uncertain 14_95923806_T->C 14 95923806 95923806 T C snp 141.03 1/1 12 4 0 4 1.0 intronic rs8007606 SYNE3 AU NM_152592 exon14 c.39513+131T>C 0.638578 0.5813 Uncertain 14_95932223_A->G 14 95932223 95932223 A G snp 2179.77 1/1 99 70 0 70 1.0 intronic rs12434921 SYNE3 AU NM_152592 exon15 c.48105-44A>G 0.670927 0.5437 0.698293 0.6732 0.4998 Uncertain 14_95932628_T->C 14 95932628 95932628 T C snp 3944.77 1/1 99 121 0 121 1.0 intronic rs4900270 SYNE3 AU NM_152592 exon15 c.48415+51T>C 0.670527 0.5437 0.704199 0.6727 0.5023 Uncertain 14_95983330_T->C 14 95983330 95983330 T C snp 2594.77 0/1 99 217 107 110 0.51 intergenic rs150722048 SYNE3 AU 0.0569089 0.0595 0.2123 0.1765 Uncertain 14_95983343_G->A 14 95983343 95983343 G A snp 2786.77 0/1 99 237 114 123 0.52 intergenic rs186766499 SYNE3 AU 0.00359425 0.0089 0.0073 0.0652 Uncertain 14_95999820_T->C 14 95999820 95999820 T C snp 4068.77 1/1 99 149 0 149 1.0 ncRNA_exonic rs3825546 SCARNA13 AU 0.426917 0.5337 0.397803 0.4397 0.5324 Uncertain 14_96103031_G->A 14 96103031 96103031 G A snp 310.77 0/1 99 37 23 14 0.38 intergenic rs7144328 GLRX5 AR 0.125599 0.0893 Uncertain 14_96103184_C->T 14 96103184 96103184 C T snp 1077.77 0/1 99 101 52 49 0.49 intergenic rs7144361 GLRX5 AR 0.13099 0.0893 Uncertain 14_96129023_C->T 14 96129023 96129023 C T snp 195.77 0/1 99 27 16 11 0.41 ncRNA_intronic rs71415006 TCL6 AU 0.119209 0.0873 0.107258 0.1058 0.1168 Uncertain 14_96131432_A->G 14 96131432 96131432 A G snp 881.77 1/1 63 30 0 30 1.0 ncRNA_intronic rs1743491 TCL6 AU 0.930511 0.8284 0.986852 0.9557 0.8357 Uncertain 14_96131483_A->T 14 96131483 96131483 A T snp 233.77 0/1 99 15 5 10 0.67 ncRNA_intronic rs117276531 TCL6 AU 0.00499201 0.0248 Uncertain 14_96135857_C->T 14 96135857 96135857 C T snp 1901.77 0/1 99 144 67 77 0.53 ncRNA_intronic rs1748965 TCL6 AU 0.41254 0.5556 0.361372 0.4577 0.5262 Uncertain 14_96136775_C->A 14 96136775 96136775 C A snp 3273.77 0/1 99 249 108 141 0.57 ncRNA_splicing rs2296310 TCL6 AU 0.177915 0.2718 0.154006 0.1442 0.2997 Uncertain 14_96136794_A->G 14 96136794 96136794 A G snp 3304.77 0/1 99 250 104 146 0.58 ncRNA_exonic rs2249778 TCL6 AU 0.327875 0.2837 0.317238 0.2381 0.3144 Uncertain 14_96137935_G->A 14 96137935 96137935 G A snp 333.78 1/1 27 9 0 9 1.0 ncRNA_intronic rs911678 TCL6 AU 0.661142 0.8145 Uncertain 14_96157187_G->A 14 96157187 96157187 G A snp 3014.77 0/1 99 250 133 117 0.47 exonic rs1064017 TCL1B AU nonsynonymous SNV NM_004918 exon2 c.G277A p.G93R 0.262181 0.0873 0.394126 0.3571 0.0827 0.91 T 0.0 P -0.965 T 0.946 T 0.347 D Pathogenic 14_96157698_A->G 14 96157698 96157698 A G snp 460.77 0/1 99 61 40 21 0.34 intronic rs1748958 TCL1B AU NM_004918 exon3 c.4869+25A>G 0.915535 0.8522 0.975857 0.9493 0.8538 Uncertain 14_96178173_G->A 14 96178173 96178173 G A snp 952.77 0/1 99 89 47 42 0.47 intronic rs2296311 TCL1A AU NM_001098725 exon2 c.48+34G>A 0.217851 0.1131 0.216592 0.1785 0.1174 Uncertain 14_96178688_C->T 14 96178688 96178688 C T snp 1161.77 0/1 99 113 65 48 0.42 exonic rs17093294 TCL1A AU nonsynonymous SNV NM_001098725 exon2 c.G166A p.V56I 0.0435304 0.1319 0.015378 0.0346 0.1358 0.06 T 0.0 P -1.021 T 0.001 T 0.001 T Pathogenic 14_96178790_C->T 14 96178790 96178790 C T snp 291.77 0/1 99 55 38 17 0.31 intronic rs79582761 TCL1A AU NM_001098725 exon3 c.642+57C>T 0.04373 0.1319 Uncertain 14_96180242_C->A 14 96180242 96180242 C A snp 2050.77 0/1 99 180 92 88 0.49 intronic rs1122138 TCL1A AU NM_001098725 exon4 c.2192-41C>A 0.220847 0.1141 0.219053 0.1745 0.1105 Uncertain 14_96556846_C->T 14 96556846 96556846 C T snp 1444.77 1/1 99 44 0 44 1.0 UTR3 rs61985272 C14orf132 AU 0.377396 0.5546 0.4096 0.6296 Uncertain 14_96556914_T->C 14 96556914 96556914 T C snp 2643.77 1/1 99 96 0 96 1.0 UTR3 rs2093722 C14orf132 AU 0.810104 0.9504 0.6823 0.9493 Uncertain 14_96557121_T->C 14 96557121 96557121 T C snp 4202.77 1/1 99 140 0 140 1.0 UTR3 rs10148419 C14orf132 AU 0.994808 1 0.9915 1 Uncertain 14_96671139_C->T 14 96671139 96671139 C T snp 1137.77 0/1 99 91 42 49 0.54 UTR5 rs1799722 BDKRB2 AU 0.386981 0.4732 0.4830 0.5235 ID=CR004531;DIS=Hypertension, association with;TAG=DFP;PUB=11130770 DFP Uncertain 14_96671208_GGTGGGGAC->- 14 96671208 96671216 GGTGGGGAC - indel 5257.73 1/1 99 70 0 70 1.0 UTR5 rs71103505 BDKRB2 AU 0.648163 0.9762 0.4911 0.9571 Uncertain 14_96703347_C->A 14 96703347 96703347 C A snp 426.77 0/1 99 45 26 19 0.42 intronic rs2069577 BDKRB2 AU 0.373003 0.4385 Uncertain 14_96707457_A->G 14 96707457 96707457 A G snp 2661.77 0/1 99 237 130 107 0.45 exonic rs5224 BDKRB2 AU synonymous SNV NM_000623 exon3 c.A792G p.T264T 0.859026 0.8194 0.882516 0.8332 0.8110 Uncertain 14_96728964_G->T 14 96728964 96728964 G T snp 54.74 1/1 6 3 1 2 0.67 intronic rs11848191 BDKRB1 AU 0.0314 0 Uncertain 14_96730142_A->G 14 96730142 96730142 A G snp 715.77 0/1 99 89 57 32 0.36 exonic rs2071084 BDKRB1 AU synonymous SNV NM_000710 exon3 c.A123G p.P41P 0.834265 0.7798 0.868753 0.8300 0.7812 Uncertain 14_96734584_T->A 14 96734584 96734584 T A snp 115.77 0/1 99 11 6 5 0.45 intergenic rs11160324 BDKRB1 AU 0.289736 0.3849 Uncertain 14_96742603_G->A 14 96742603 96742603 G A snp 1247.77 0/1 99 99 50 49 0.49 intergenic rs12893091 BDKRB1 AU 0.280551 0.1746 0.2755 0.1364 Uncertain 14_96757361_T->A 14 96757361 96757361 T A snp 95.28 1/1 9 4 0 4 1.0 intronic rs10454690 ATG2B AU NM_018036 exon4 c.5181+89T>A 0.796126 0.7649 Uncertain 14_96758160_C->T 14 96758160 96758160 C T snp 48.74 1/1 6 2 0 2 1.0 intronic rs2275022 ATG2B AU NM_018036 exon5 c.5928+141C>T 0.796526 0.7659 Uncertain 14_96761557_A->C 14 96761557 96761557 A C snp 2065.77 1/1 99 66 0 66 1.0 intronic rs1770547 ATG2B AU NM_018036 exon7 c.9413+53A>C 0.792133 0.8175 Uncertain 14_96770952_C->A 14 96770952 96770952 C A snp 58.77 0/1 87 49 38 11 0.22 intronic rs557346714 ATG2B AU NM_018036 exon11 c.18849+12C>A 0.238419 0.131 Uncertain 14_96770952_-->A 14 96770952 96770952 - A indel 229.73 0/1 99 49 15 34 0.69 intronic rs36013915 ATG2B AU NM_018036 exon11 c.18849+12insA 0.10623 0.1071 Uncertain 14_96771959_A->G 14 96771959 96771959 A G snp 810.77 0/1 99 85 52 33 0.39 exonic rs2289622 ATG2B AU nonsynonymous SNV NM_018036 exon31 c.T4700C p.I1567T 0.89357 0.7629 0.978779 0.9445 0.7633 0.89 T 0.0 P -1.002 T 0.0 T 0.0 T Pathogenic 14_96775613_G->T 14 96775613 96775613 G T snp 251.77 0/1 99 21 12 9 0.43 intronic rs2289626 ATG2B AU NM_018036 exon14 c.23698-176G>T 0.503794 0.4127 Uncertain 14_96777408_T->C 14 96777408 96777408 T C snp 472.77 0/1 99 64 41 23 0.36 intronic rs3759602 ATG2B AU NM_018036 exon15 c.25362-45T>C 0.2502 0.1786 0.337613 0.3581 0.1995 Uncertain 14_96777468_G->C 14 96777468 96777468 G C snp 1140.77 0/1 99 157 103 54 0.34 exonic rs3759601 ATG2B AU nonsynonymous SNV NM_018036 exon28 c.C4147G p.Q1383E 0.2498 0.1776 0.337460 0.3552 0.1992 1 T 0.0 P -0.944 T 0.001 T 0.004 T Pathogenic 14_96781912_T->C 14 96781912 96781912 T C snp 923.77 0/1 99 96 52 44 0.46 exonic rs9323945 ATG2B AU nonsynonymous SNV NM_018036 exon22 c.A3370G p.N1124D 0.90655 0.7629 0.992887 0.9485 0.7625 1 T 0.000 P -0.958 T 0.0 T 0.0 T Pathogenic 14_96797724_G->A 14 96797724 96797724 G A snp 2121.77 0/1 99 182 98 84 0.46 exonic rs1822372 ATG2B AU synonymous SNV NM_018036 exon11 c.C1719T p.H573H 0.84405 0.5546 0.978992 0.9206 0.5581 Uncertain 14_96807783_G->A 14 96807783 96807783 G A snp 721.77 0/1 99 38 14 24 0.63 intronic rs191232696 ATG2B AU NM_018036 exon37 c.55767-75G>A 0.00239617 0.0119 Uncertain 14_96813703_A->T 14 96813703 96813703 A T snp 801.77 0/1 99 41 13 28 0.68 intronic rs4905483 ATG2B AU NM_018036 exon41 c.61587+25A>T 0.844449 0.5546 0.979896 0.9217 0.5597 Uncertain 14_96829290_G->A 14 96829290 96829290 G A snp 1265.77 0/1 99 114 60 54 0.47 exonic rs12434329 ATG2B AU synonymous SNV NM_018036 exon1 c.C24T p.S8S 0.479433 0.4276 0.602068 0.6202 0.4261 Uncertain 14_96852071_T->C 14 96852071 96852071 T C snp 508.77 0/1 99 68 45 23 0.34 UTR3 rs1545280 GSKIP AU 0.258586 0.1766 0.349946 0.3714 0.2001 Uncertain 14_96864309_A->G 14 96864309 96864309 A G snp 390.77 1/1 30 12 0 12 1.0 intronic rs8019939 AK7 AU NM_152327 exon2 c.5920-102A>G 0.675519 0.8313 Uncertain 14_96871104_G->A 14 96871104 96871104 G A snp 1101.77 0/1 99 88 43 45 0.51 exonic rs2275554 AK7 AU nonsynonymous SNV NM_152327 exon3 c.G305A p.R102Q 0.213458 0.1944 0.246040 0.2184 0.1800 0.23 T 1.000 P -1.033 T 0.152 T 0.037 T Pathogenic 14_96871337_C->T 14 96871337 96871337 C T snp 40.77 0/1 69 5 3 2 0.4 intronic rs8009774 AK7 AU NM_152327 exon3 c.12711+135C>T 0.213059 0.1944 Uncertain 14_96871338_C->T 14 96871338 96871338 C T snp 38.77 0/1 67 5 3 2 0.4 intronic rs8009775 AK7 AU NM_152327 exon3 c.12711+136C>T 0.213658 0.1944 Uncertain 14_96874987_T->C 14 96874987 96874987 T C snp 182.9 1/1 15 6 0 6 1.0 intronic rs4900324 AK7 AU NM_152327 exon4 c.16692-196T>C 0.864417 0.9524 Uncertain 14_96909025_A->G 14 96909025 96909025 A G snp 6285.77 1/1 99 212 0 212 1.0 intronic rs12431832 AK7 AU NM_152327 exon7 c.50575-41A>G 0.184904 0.498 0.141166 0.1942 0.4927 Uncertain 14_96916232_-->T 14 96916232 96916232 - T indel 154.75 1/1 24 18 0 18 1.0 intronic rs11424079 AK7 AU NM_152327 exon9 c.57725+16insT 0.582287 0.5570 0.6370 Uncertain 14_96922752_C->G 14 96922752 96922752 C G snp 4742.77 1/1 99 168 0 168 1.0 exonic rs2369679 AK7 AU nonsynonymous SNV NM_152327 exon11 c.C1167G p.N389K 0.884585 0.9524 0.870598 0.8384 0.9618 1 T 1.000 P -1.002 T 0.0 T 0.001 T Pathogenic 14_96998622_TG->- 14 96998622 96998623 TG - indel 722.73 1/1 57 19 0 19 1.0 UTR3 rs10533972 PAPOLA AU 0.4254 0.6559 Uncertain 14_97299853_A->G 14 97299853 97299853 A G snp 2967.77 0/1 99 247 123 124 0.5 exonic rs2145635 VRK1 AR synonymous SNV NM_003384 exon2 c.A45G p.A15A 0.289537 0.1161 0.330898 0.3565 0.1173 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000118847.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 14_97312642_G->A 14 97312642 97312642 G A snp 56.74 1/1 6 2 0 2 1.0 intronic rs1951311 VRK1 AR NM_003384 exon4 c.12693+141G>A 0.547724 0.1558 Uncertain 14_97321689_C->T 14 97321689 97321689 C T snp 1771.77 0/1 99 191 111 80 0.42 exonic rs2230532 VRK1 AR synonymous SNV NM_003384 exon8 c.C705T p.G235G 0.416733 0.8442 0.290251 0.3892 0.8518 1.0 P -1.060 T CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000118848.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Likely benign 14_98217929_T->C 14 98217929 98217929 T C snp 261.8 1/1 21 7 0 7 1.0 intergenic rs12893126 LOC100129345 AU 0.78754 0.9554 0.7740 0.9697 Uncertain 14_98435696_T->C 14 98435696 98435696 T C snp 6756.77 1/1 99 250 0 250 1.0 ncRNA_exonic rs2124843 LINC01550 AU 0.979633 1 0.9989 1 -1.020 T Uncertain 14_98444369_T->C 14 98444369 98444369 T C snp 1854.77 1/1 99 69 0 69 1.0 ncRNA_exonic rs8016584 LINC01550 AU 0.999601 1 0.9999 1 -1.012 T Uncertain 14_99182535_C->T 14 99182535 99182535 C T snp 671.77 0/1 99 48 23 25 0.52 exonic rs17097718 C14orf177 AU nonsynonymous SNV NM_182560 exon3 c.C7T p.R3W 0.086262 0.1161 0.043733 0.0837 0.1189 0 D 0.0 P -1.071 T 0.688 T 0.157 P Pathogenic 14_99392468_C->G 14 99392468 99392468 C G snp 226.77 0/1 99 19 8 11 0.58 intergenic rs200318 C14orf177 AU 0.717053 0.7877 Uncertain 14_99642647_T->A 14 99642647 99642647 T A snp 1748.77 1/1 99 55 0 55 1.0 intronic rs2487507 BCL11B AU NM_138576 exon1 c.2045+115T>A 0.466853 0.3869 Uncertain 14_99871812_T->G 14 99871812 99871812 T G snp 1012.77 0/1 99 85 42 43 0.51 intronic rs1262304 SETD3 AU NM_032233 exon4 c.6693+104T>G 0.515375 0.5675 Uncertain 14_99876505_A->G 14 99876505 99876505 A G snp 496.77 0/1 99 52 33 19 0.37 UTR3 rs1047351 SETD3 AU 0.557109 0.5665 0.498539 0.5074 0.5581 Uncertain 14_99924980_AA->- 14 99924980 99924981 AA - indel 1003.73 0/1 99 34 10 24 0.71 intronic rs561472613 SETD3 AU NM_199123 exon4 c.48362+108_48362+109delAA 0.452476 0.5655 Uncertain 14_99929801_G->A 14 99929801 99929801 G A snp 536.77 0/1 99 79 55 24 0.3 intronic rs2273386 SETD3 AU NM_199123 exon7 c.53312-21G>A 0.453075 0.5655 0.389897 0.5041 0.5988 Uncertain 14_99930141_G->T 14 99930141 99930141 G T snp 99.28 1/1 9 4 0 4 1.0 intronic rs4569192 SETD3 AU NM_199123 exon7 c.53405+226G>T 0.965855 1 Uncertain 14_99961830_T->C 14 99961830 99961830 T C snp 502.77 0/1 99 29 11 18 0.62 splicing rs2069492 CCNK AU NM_001099402 exon4 c.2820-4T>C 0.447284 0.375 0.521147 0.5113 0.3823 Pathogenic 14_99976478_C->T 14 99976478 99976478 C T snp 191.77 0/1 99 21 12 9 0.43 intronic rs200683291 CCNK AU NM_001099402 exon11 c.17479-15C>T 1.863e-05 0.0002 Uncertain 14_99981858_G->A 14 99981858 99981858 G A snp 413.77 0/1 99 37 20 17 0.46 intronic rs11621993 CCDC85C AU NM_001144995 exon1 c.90+186G>A 0.404752 0.4325 Uncertain 14_99988724_A->G 14 99988724 99988724 A G snp 99.28 1/1 9 4 0 4 1.0 intronic rs2400681 CCDC85C AU NM_001144995 exon4 c.6995+147A>G 0.860224 0.996 Uncertain 14_100002473_A->G 14 100002473 100002473 A G snp 2773.77 1/1 99 98 0 98 1.0 intronic rs12882209 CCDC85C AU NM_001144995 exon5 c.20843+48A>G 0.997204 1 0.997153 0.9986 1 Uncertain 14_100046271_-->C 14 100046271 100046271 - C indel 3701.73 0/1 99 247 136 111 0.45 intronic rs34139518 CCDC85C AU NM_001144995 exon6 c.87921-23232insC 0.411542 0.3859 Uncertain 14_100069742_G->A 14 100069742 100069742 G A snp 928.77 1/1 72 30 0 30 1.0 exonic rs8007401 CCDC85C AU synonymous SNV NM_001144995 exon1 c.C555T p.S185S 0.817492 0.9851 0.9448 1 Uncertain 14_100070030_G->A 14 100070030 100070030 G A snp 1565.77 0/1 99 143 79 64 0.45 exonic rs78667152 CCDC85C AU synonymous SNV NM_001144995 exon1 c.C267T p.C89C 0.190495 0.3433 0.0511 0.3784 Uncertain 14_100111565_G->A 14 100111565 100111565 G A snp 483.77 0/1 99 31 8 23 0.74 exonic rs12893887 HHIPL1 AU synonymous SNV NM_001127258 exon1 c.G21A p.G7G 0.215256 0.3194 0.3716 0.5 Uncertain 14_100125721_C->T 14 100125721 100125721 C T snp 1379.77 1/1 99 56 0 56 1.0 intronic rs7145262 HHIPL1 AU NM_032425 exon4 c.14220-43C>T 0.325479 0.2758 0.4907 0.5 Uncertain 14_100126183_A->C 14 100126183 100126183 A C snp 54.74 1/1 6 2 0 2 1.0 intronic rs112888640 HHIPL1 AU NM_032425 exon4 c.14549+90A>C Uncertain 14_100135306_G->A 14 100135306 100135306 G A snp 3084.77 1/1 99 107 0 107 1.0 UTR3 rs12436072 HHIPL1 AU 0.324281 0.2599 0.355826 0.4140 0.2768 Uncertain 14_100150975_T->C 14 100150975 100150975 T C snp 472.77 0/1 99 35 19 16 0.46 intronic rs61984440 CYP46A1 AU NM_006668 exon1 c.119+102T>C 0.291933 0.3581 Uncertain 14_100157967_A->G 14 100157967 100157967 A G snp 258.77 0/1 99 16 8 8 0.5 intronic rs754203 CYP46A1 AU NM_006668 exon3 c.7362-149A>G 0.287939 0.3442 Uncertain 14_100158241_C->T 14 100158241 100158241 C T snp 2621.77 1/1 99 87 0 87 1.0 intronic rs4900442 CYP46A1 AU NM_006668 exon3 c.7444+43C>T 0.440296 0.4911 0.411041 0.4713 0.5040 Uncertain 14_100165673_C->T 14 100165673 100165673 C T snp 712.77 0/1 99 71 42 29 0.41 intronic rs3742376 CYP46A1 AU NM_006668 exon4 c.15048-129C>T 0.285543 0.3433 Uncertain 14_100166228_G->A 14 100166228 100166228 G A snp 2030.77 0/1 99 187 95 92 0.49 intronic rs3742377 CYP46A1 AU NM_006668 exon5 c.15597-123G>A 0.147963 0.1488 Uncertain 14_100174092_-->T 14 100174092 100174092 - T indel 279.73 0/1 99 48 10 38 0.79 intronic rs34955990 CYP46A1 AU NM_006668 exon7 c.23261+77insT 0.440695 0.4504 0.3691 0.3139 Uncertain 14_100182082_T->C 14 100182082 100182082 T C snp 121.77 0/1 99 36 27 9 0.25 intronic rs3752957 CYP46A1 AU NM_006668 exon8 c.31392-64T>C 0.138179 0.1627 Uncertain 14_100184589_A->G 14 100184589 100184589 A G snp 979.77 1/1 72 31 0 31 1.0 intronic rs7151522 CYP46A1 AU NM_006668 exon10 c.33709+126A>G 0.742212 0.7262 Uncertain 14_100188144_A->C 14 100188144 100188144 A C snp 155.77 0/1 99 11 5 6 0.55 intronic rs2273840 CYP46A1 AU NM_006668 exon12 c.37538-148A>C 0.0804712 0.1389 Uncertain 14_100189287_C->T 14 100189287 100189287 C T snp 1266.77 0/1 99 127 75 52 0.41 intronic rs10151332 CYP46A1 AU NM_006668 exon12 c.37649+884C>T 0.390575 0.3869 0.4596 0.3788 Uncertain 14_100317376_G->A 14 100317376 100317376 G A snp 355.77 0/1 99 28 16 12 0.43 splicing rs72708401 EML1 AR NM_004434 exon2 c.57559+4G>A 0.14976 0.1359 0.225896 0.2493 0.1518 Pathogenic 14_100317472_G->A 14 100317472 100317472 G A snp 50.74 1/1 6 2 0 2 1.0 intronic rs4905905 EML1 AR NM_004434 exon2 c.57559+100G>A 0.14976 0.1359 Uncertain 14_100331876_T->C 14 100331876 100331876 T C snp 1559.77 0/1 99 128 60 68 0.53 exonic rs11160553 EML1 AR synonymous SNV NM_004434 exon3 c.T276C p.P92P 0.183107 0.1369 0.273950 0.2696 0.1502 Uncertain 14_100331926_G->A 14 100331926 100331926 G A snp 1465.77 0/1 99 132 66 66 0.5 exonic rs141631682 EML1 AR nonsynonymous SNV NM_004434 exon3 c.G326A p.G109D 0.00958466 0.0129 0.003921 0.0036 0.0157 0.17 T 1 D -0.955 T 0.863 T 0.946 P Pathogenic 14_100344698_T->C 14 100344698 100344698 T C snp 645.77 1/1 48 23 0 23 1.0 intronic rs1191118 EML1 AR NM_004434 exon4 c.85008-123T>C 0.929113 0.994 Uncertain 14_100352375_C->T 14 100352375 100352375 C T snp 1037.77 0/1 99 86 42 44 0.51 intronic rs746698 EML1 AR NM_004434 exon5 c.97722-5160C>T 0.251797 0.4692 Uncertain 14_100363336_T->C 14 100363336 100363336 T C snp 765.77 1/1 57 20 0 20 1.0 intronic rs17652784 EML1 AR NM_004434 exon7 c.103668-145T>C 0.594649 0.5923 Uncertain 14_100363671_G->C 14 100363671 100363671 G C snp 698.03 1/1 12 30 2 28 0.93 intronic rs2273707 EML1 AR NM_004434 exon7 c.103818+40G>C 0.555511 0.5903 0.054975 0.5266 0.5494 Uncertain 14_100363672_A->G 14 100363672 100363672 A G snp 662.28 1/1 9 29 2 27 0.93 intronic rs2273706 EML1 AR NM_004434 exon7 c.103818+41A>G 0.557508 0.5913 0.066969 0.5270 0.5500 Uncertain 14_100364403_T->C 14 100364403 100364403 T C snp 75.28 1/1 9 3 0 3 1.0 intronic rs3736815 EML1 AR NM_004434 exon8 c.104756-166T>C 0.558706 0.5923 Uncertain 14_100375707_C->T 14 100375707 100375707 C T snp 2823.77 0/1 99 249 133 116 0.47 exonic rs34198557 EML1 AR nonsynonymous SNV NM_004434 exon11 c.C1130T p.A377V 0.2502 0.4673 0.158619 0.2199 0.4180 1 T 1.000 P -0.917 T 0.029 T 0.023 T Pathogenic 14_100380948_T->C 14 100380948 100380948 T C snp 1994.77 1/1 99 74 0 74 1.0 exonic rs2250718 EML1 AR nonsynonymous SNV NM_004434 exon15 c.T1666C p.S556P 0.664137 0.5923 0.704290 0.6313 0.5560 0.57 T 0.000 P -0.994 T 0.0 T 0.0 T Pathogenic 14_100383963_C->G 14 100383963 100383963 C G snp 335.77 0/1 99 25 11 14 0.56 intronic rs3818279 EML1 AR NM_004434 exon16 c.124305-155C>G 0.266973 0.4683 Uncertain 14_100384033_TGTG->- 14 100384033 100384036 TGTG - indel 2405.73 0/1 99 69 29 40 0.58 intronic rs75719251 EML1 AR NM_004434 exon16 c.124305-85_124305-82delTGTG 0.147564 0.1171 Uncertain 14_100384232_A->C 14 100384232 100384232 A C snp 1060.77 0/1 99 87 41 46 0.53 intronic rs2273704 EML1 AR NM_004434 exon16 c.124373+46A>C 0.430511 0.4702 0.396509 0.3672 0.4225 Uncertain 14_100387242_-->T 14 100387242 100387242 - T indel 4458.73 1/1 99 157 0 157 1.0 intronic rs34263849 EML1 AR NM_004434 exon17 c.127401+28insT 0.669010 0.6328 0.5554 Uncertain 14_100402327_TTG->- 14 100402327 100402329 TTG - indel 2040.73 0/1 99 68 29 39 0.57 intronic rs3215696 EML1 AR NM_004434 exon18 c.142552-38_142552-36delTTG 0.313099 0.4196 0.261102 0.2902 0.3820 Uncertain 14_100404067_A->G 14 100404067 100404067 A G snp 555.77 0/1 99 25 9 16 0.64 intronic rs2295788 EML1 AR NM_004434 exon20 c.144340-86A>G 0.470647 0.4216 Uncertain 14_100404351_T->C 14 100404351 100404351 T C snp 4205.77 1/1 99 136 0 136 1.0 intronic rs2295787 EML1 AR NM_004434 exon20 c.144436+102T>C 0.754792 0.6974 Uncertain 14_100406193_T->A 14 100406193 100406193 T A snp 428.77 0/1 99 54 36 18 0.33 intronic rs4900449 EML1 AR NM_004434 exon22 c.146510-130T>A 0.314097 0.3274 Uncertain 14_100563669_G->A 14 100563669 100563669 G A snp 143.03 1/1 12 5 0 5 1.0 intronic rs941895 EVL AU NM_016337 exon3 c.31980-148G>A 0.958067 0.998 Uncertain 14_100592959_G->A 14 100592959 100592959 G A snp 475.77 0/1 99 45 22 23 0.51 intronic rs726514 EVL AU NM_016337 exon5 c.61206-84G>A 0.377396 0.2222 Uncertain 14_100595278_T->A 14 100595278 100595278 T A snp 674.77 1/1 51 17 0 17 1.0 intronic rs3783337 EVL AU NM_016337 exon6 c.63248+193T>A 0.815296 0.8046 Uncertain 14_100599164_G->A 14 100599164 100599164 G A snp 186.77 0/1 99 18 11 7 0.39 intronic rs941897 EVL AU NM_016337 exon8 c.67279+48G>A 0.514776 0.2391 0.578810 0.5632 0.2359 Uncertain 14_100607360_T->C 14 100607360 100607360 T C snp 373.77 0/1 99 36 20 16 0.44 intronic rs1951486 EVL AU NM_016337 exon12 c.75679-156T>C 0.428315 0.2351 Uncertain 14_100607595_C->T 14 100607595 100607595 C T snp 2628.77 0/1 99 227 111 116 0.51 intronic rs56051501 EVL AU NM_016337 exon12 c.75746+12C>T 0.129992 0.38 0.062125 0.1068 0.3773 Uncertain 14_100608274_T->C 14 100608274 100608274 T C snp 70.77 0/1 69 6 3 3 0.5 intronic rs4905933 EVL AU NM_016337 exon13 c.76293+144T>C 0.395567 0.2331 Uncertain 14_100609888_A->G 14 100609888 100609888 A G snp 99.28 1/1 9 3 0 3 1.0 intronic rs11621814 EVL AU NM_016337 exon14 c.78200-149A>G 0.313498 0.6706 Uncertain 14_100615665_T->C 14 100615665 100615665 T C snp 5648.77 1/1 99 201 0 201 1.0 exonic rs4905936 DEGS2 AU synonymous SNV NM_206918 exon2 c.A465G p.T155T 0.897165 0.996 0.871327 0.8929 0.9981 Uncertain 14_100740904_G->C 14 100740904 100740904 G C snp 316.78 1/1 24 11 0 11 1.0 intronic rs4905942 YY1 AU NM_003403 exon3 c.35453-130G>C 0.717053 0.6002 Uncertain 14_100758502_G->A 14 100758502 100758502 G A snp 1246.77 0/1 99 86 34 52 0.6 UTR3 rs11557208 SLC25A29 AU 0.307508 0.2897 0.3987 0.3048 Uncertain 14_100759046_C->A 14 100759046 100759046 C A snp 3005.77 0/1 99 250 120 130 0.52 exonic rs3825555 SLC25A29 AU synonymous SNV NM_152333 exon3 c.G288T p.T96T 0.530351 0.7083 0.522654 0.6059 0.7464 Uncertain 14_100759738_A->C 14 100759738 100759738 A C snp 1213.77 0/1 99 143 86 57 0.4 intronic rs3809409 SLC25A29 AU NM_001039355 exon2 c.1095+24A>C 0.266174 0.1736 0.248731 0.3052 0.1878 Uncertain 14_100772672_G->C 14 100772672 100772672 G C snp 227.77 0/1 99 21 11 10 0.48 UTR5 rs11557209 SLC25A29 AU 0.361222 0.2946 Uncertain 14_100792093_C->G 14 100792093 100792093 C G snp 1253.77 0/1 99 69 24 45 0.65 intronic rs9324019 SLC25A47 AU NM_207117 exon2 c.2373-31C>G 0.377995 0.5268 0.322467 0.3590 0.5525 Uncertain 14_100792126_C->T 14 100792126 100792126 C T snp 1160.77 0/1 99 118 74 44 0.37 exonic rs35097172 SLC25A47 AU synonymous SNV NM_207117 exon2 c.C30T p.G10G 0.132388 0.1181 0.186145 0.1879 0.1320 Uncertain 14_100792220_C->T 14 100792220 100792220 C T snp 6629.77 1/1 99 250 0 250 1.0 intronic rs7155877 SLC25A47 AU NM_207117 exon2 c.2417+52C>T 0.959465 1 0.954208 0.9868 1 Uncertain 14_100792482_C->A 14 100792482 100792482 C A snp 2787.77 0/1 99 225 105 120 0.53 intronic rs1951519 SLC25A47 AU NM_207117 exon3 c.2742-11C>A 0.714257 0.7569 0.666539 0.7544 0.7886 Uncertain 14_100793431_G->A 14 100793431 100793431 G A snp 926.77 0/1 99 59 29 30 0.51 intronic rs1535464 SLC25A47 AU NM_207117 exon4 c.3773-93G>A 0.135583 0.123 Uncertain 14_100795338_G->C 14 100795338 100795338 G C snp 1540.77 0/1 99 170 103 67 0.39 exonic rs8015259 SLC25A47 AU synonymous SNV NM_207117 exon5 c.G603C p.A201A 0.28774 0.246 0.308871 0.2440 0.2146 Uncertain 14_100795630_C->T 14 100795630 100795630 C T snp 265.77 0/1 99 23 14 9 0.39 intronic rs4905950 SLC25A47 AU NM_207117 exon6 c.5950-71C>T 0.360024 0.5278 Uncertain 14_100795663_G->A 14 100795663 100795663 G A snp 666.77 0/1 99 57 33 24 0.42 intronic rs10147903 SLC25A47 AU NM_207117 exon6 c.5950-38G>A 0.354233 0.5288 0.276624 0.3161 0.5564 Uncertain 14_100795992_A->T 14 100795992 100795992 A T snp 433.77 0/1 99 36 17 19 0.53 UTR3 rs3742380 SLC25A47 AU 0.00599042 0.0278 0.0021 0.0272 Uncertain 14_100801423_T->C 14 100801423 100801423 T C snp 1325.77 1/1 96 40 0 40 1.0 intronic rs2234532 WARS AU NM_213646 exon1 c.162+50T>C 0.960463 1 0.956405 0.9876 0.9995 Uncertain 14_100803364_A->G 14 100803364 100803364 A G snp 1023.77 0/1 99 77 34 43 0.56 intronic rs2234530 WARS AU NM_213646 exon2 c.2187-34A>G 0.777756 0.87 0.730817 0.7943 0.8621 Uncertain 14_100803655_C->A 14 100803655 100803655 C A snp 363.77 0/1 99 29 16 13 0.45 intronic rs2234528 WARS AU NM_213646 exon2 c.2328+116C>A 0.777756 0.87 Uncertain 14_100803682_T->C 14 100803682 100803682 T C snp 391.77 1/1 30 11 0 11 1.0 intronic rs4905951 WARS AU NM_213646 exon2 c.2328+143T>C 0.997604 1 Uncertain 14_100808493_-->A 14 100808493 100808493 - A indel 1186.73 1/1 99 40 0 40 1.0 intronic rs397771059 WARS AU NM_213646 exon3 c.7523-241insA 0.959864 1 Uncertain 14_100808510_T->A 14 100808510 100808510 T A snp 459.77 0/1 99 58 37 21 0.36 intronic rs1373 WARS AU NM_213646 exon3 c.7523-224T>A 0.692891 0.756 0.7774 0.7981 Uncertain 14_100808845_G->A 14 100808845 100808845 G A snp 460.77 0/1 99 35 13 22 0.63 exonic rs9453 WARS AU synonymous SNV NM_004184 exon9 c.C1003T p.L335L 0.692692 0.755 0.658542 0.7464 0.7862 Uncertain 14_100813077_T->C 14 100813077 100813077 T C snp 1548.77 0/1 99 120 57 63 0.53 splicing rs941923 WARS AU NM_213646 exon5 c.11871-5T>C 0.697085 0.755 0.665539 0.7513 0.7852 Pathogenic 14_100820980_G->A 14 100820980 100820980 G A snp 575.77 0/1 99 35 15 20 0.57 intronic rs1009812 WARS AU NM_213646 exon7 c.19692+77G>A 0.692891 0.756 Uncertain 14_100826773_C->G 14 100826773 100826773 C G snp 281.77 0/1 99 34 22 12 0.35 intronic rs2234524 WARS AU NM_213646 exon8 c.25679-117C>G 0.777356 0.87 Uncertain 14_100828397_T->C 14 100828397 100828397 T C snp 197.77 0/1 94 9 3 6 0.67 intronic rs2400898 WARS AU NM_213646 exon9 c.27047+139T>C 0.692692 0.756 Uncertain 14_100832252_C->T 14 100832252 100832252 C T snp 484.77 0/1 99 39 20 19 0.49 intronic rs724392 WARS AU NM_004184 exon10 c.34212-3171C>T 0.281949 0.5149 Uncertain 14_100832282_C->G 14 100832282 100832282 C G snp 530.77 0/1 99 50 26 24 0.48 intronic rs2146105 WARS AU NM_004184 exon10 c.34212-3141C>G 0.778155 0.87 Uncertain 14_100832391_T->C 14 100832391 100832391 T C snp 1130.77 0/1 99 96 47 49 0.51 intronic rs724391 WARS AU NM_004184 exon10 c.34212-3032T>C 0.692692 0.756 0.7939 0.7727 Uncertain 14_100832553_C->T 14 100832553 100832553 C T snp 38.77 0/1 67 5 3 2 0.4 intronic rs117624906 WARS AU NM_004184 exon10 c.34212-2870C>T 0.00139776 0.0069 Uncertain 14_100847523_T->C 14 100847523 100847523 T C snp 5110.77 1/1 99 184 0 184 1.0 exonic rs2181170 WDR25 AU nonsynonymous SNV NM_001161476 exon2 c.T262C p.W88R 0.998602 1 0.998308 0.9996 1 0.79 T 0.0 P -0.994 T 0.0 T 0.0 T Pathogenic 14_100847707_A->G 14 100847707 100847707 A G snp 2347.77 0/1 99 198 104 94 0.47 exonic rs2273800 WDR25 AU nonsynonymous SNV NM_001161476 exon2 c.A446G p.H149R 0.646965 0.4742 0.722128 0.6968 0.4409 0.54 T 0.0 P -0.967 T 0.0 T 0.0 T Pathogenic 14_100847930_A->G 14 100847930 100847930 A G snp 2160.77 0/1 99 202 112 90 0.45 exonic rs3742387 WDR25 AU synonymous SNV NM_001161476 exon2 c.A669G p.P223P 0.646166 0.4742 0.719130 0.6973 0.4419 Uncertain 14_100934602_C->T 14 100934602 100934602 C T snp 170.77 0/1 99 47 37 10 0.21 intronic rs4905966 WDR25 AU NM_024515 exon3 c.87244+97C>T 0.514776 0.5923 Uncertain 14_100995793_G->C 14 100995793 100995793 G C snp 416.77 0/1 99 25 8 17 0.68 intronic rs7493442 WDR25 AU NM_024515 exon6 c.148284+248G>C 0.478235 0.631 Uncertain 14_100996312_T->C 14 100996312 100996312 T C snp 1910.77 0/1 99 175 91 84 0.48 exonic rs13065 WDR25 AU synonymous SNV NM_001161476 exon7 c.T1569C p.Y523Y 0.641374 0.6974 0.556743 0.4878 0.6812 Uncertain 14_101005215_T->C 14 101005215 101005215 T C snp 1556.77 0/1 99 137 72 65 0.47 exonic rs12893951 BEGAIN AU synonymous SNV NM_001159531 exon6 c.A873G p.A291A 0.650958 0.7093 0.567857 0.5048 0.6780 Uncertain 14_101005236_A->G 14 101005236 101005236 A G snp 1510.77 0/1 99 144 78 66 0.46 exonic rs12892571 BEGAIN AU synonymous SNV NM_001159531 exon6 c.T852C p.H284H 0.644169 0.7054 0.555179 0.4885 0.6772 Uncertain 14_101007072_C->G 14 101007072 101007072 C G snp 1245.77 1/1 93 35 0 35 1.0 intronic rs6575788 BEGAIN AU NM_020836 exon2 c.2611+156C>G 0.997404 0.9871 Uncertain 14_101010364_G->A 14 101010364 101010364 G A snp 228.77 0/1 99 14 4 10 0.71 intronic rs4073550 BEGAIN AU NM_020836 exon3 c.5997+62G>A 0.253994 0.5605 Uncertain 14_101012778_G->A 14 101012778 101012778 G A snp 126.03 1/1 12 5 0 5 1.0 intronic rs78762733 BEGAIN AU NM_020836 exon5 c.8532-59G>A 0.265176 0.5526 Uncertain 14_101012813_C->G 14 101012813 101012813 C G snp 980.77 0/1 99 47 15 32 0.68 intronic rs71421237 BEGAIN AU NM_020836 exon5 c.8532-24C>G 0.672524 0.6627 0.714488 Uncertain 14_101034419_T->C 14 101034419 101034419 T C snp 113.77 0/1 99 7 3 4 0.57 intronic rs58030748 BEGAIN AU NM_001159531 exon6 c.30102+12T>C 0.611222 0.6538 Uncertain 14_101036052_T->C 14 101036052 101036052 T C snp 1574.77 0/1 99 157 85 72 0.46 intronic rs7141087 BEGAIN AU NM_020836 exon7 c.31769-22T>C 0.610224 0.6538 Uncertain 14_101036074_C->G 14 101036074 101036074 C G snp 1796.77 0/1 99 178 99 79 0.44 splicing rs10140554 BEGAIN AU NM_020836 exon7 c.31769C>G 0.28155 0.5397 Pathogenic 14_101138230_A->C 14 101138230 101138230 A C snp 4406.77 1/1 99 157 0 157 1.0 ncRNA_exonic rs8011237 LINC00523 AU 0.764177 0.4812 Uncertain 14_101198417_A->G 14 101198417 101198417 A G snp 3563.77 1/1 99 133 0 133 1.0 exonic rs6575799 DLK1 AU nonsynonymous SNV NM_003836 exon4 c.A301G p.R101G 0.996805 1 0.996771 0.9991 1 1 T 0.000 P -0.936 T 0.0 T 0.0 T Pathogenic 14_101200445_T->C 14 101200445 101200445 T C snp 1744.77 1/1 99 46 0 46 1.0 intronic rs17577779 DLK1 AU NM_003836 exon5 c.7080-40T>C 0.746006 0.994 0.592753 0.6323 0.9983 Uncertain 14_101200645_T->C 14 101200645 101200645 T C snp 7425.77 1/1 99 250 0 250 1.0 exonic rs1802710 DLK1 AU synonymous SNV NM_003836 exon5 c.T564C p.I188I 0.743211 0.994 0.582347 0.6280 0.9981 Uncertain 14_101301012_T->C 14 101301012 101301012 T C snp 1057.77 0/1 99 88 46 42 0.48 ncRNA_exonic rs10132552 MEG3 AU 0.23742 0.2917 Uncertain 14_101301261_C->T 14 101301261 101301261 C T snp 390.77 0/1 99 25 11 14 0.56 ncRNA_intronic rs11160606 MEG3 AU 0.1875 0.2758 Uncertain 14_101302800_C->G 14 101302800 101302800 C G snp 140.77 0/1 99 16 10 6 0.38 ncRNA_intronic rs12889884 MEG3 AU 0.204273 0.2758 Uncertain 14_101311729_C->T 14 101311729 101311729 C T snp 999.77 0/1 99 104 56 48 0.46 ncRNA_intronic rs56363527 MEG3 AU 0.229433 0.2371 Uncertain 14_101377708_C->G 14 101377708 101377708 C G snp 253.8 1/1 21 11 0 11 1.0 downstream rs75747858 MIR370 AU 0.0227636 0.1081 Uncertain 14_101377736_A->G 14 101377736 101377736 A G snp 143.9 1/1 15 5 0 5 1.0 downstream rs9324026 MIR370 AU 0.509984 0.8879 Uncertain 14_101418193_G->- 14 101418193 101418193 G - indel 1305.73 1/1 99 34 0 34 1.0 ncRNA_exonic rs10713875 SNORD114-2 AU 1 1 1 1 Uncertain 14_101439009_G->T 14 101439009 101439009 G T snp 1253.77 0/1 99 130 73 57 0.44 ncRNA_exonic rs77762832 SNORD114-15 AU 0.0153754 0.0754 0.000174 0.0091 0.1017 Uncertain 14_101439010_A->T 14 101439010 101439010 A T snp 1196.77 0/1 99 131 75 56 0.43 ncRNA_exonic rs80087345 SNORD114-15 AU 0.0153754 0.0754 0.000174 0.0091 0.1016 Uncertain 14_101489858_C->T 14 101489858 101489858 C T snp 74.77 0/1 99 8 5 3 0.38 upstream;downstream rs12892719 MIR299;MIR411 UN 0.23742 0.4415 Uncertain 14_101492224_T->C 14 101492224 101492224 T C snp 492.77 0/1 99 56 36 20 0.36 upstream;downstream rs7141987 MIR329-1 AU 0.672724 0.7827 0.543802 Uncertain 14_101492548_C->T 14 101492548 101492548 C T snp 1290.77 0/1 99 92 38 54 0.59 upstream;downstream rs12586258 MIR329-1 AU 0.239217 0.4425 Uncertain 14_101495787_G->A 14 101495787 101495787 G A snp 301.78 1/1 24 9 0 9 1.0 upstream rs4906031 MIR1193 AU 0.991813 1 Uncertain 14_101496145_A->G 14 101496145 101496145 A G snp 375.77 0/1 99 19 6 13 0.68 upstream;downstream rs9324030 MIR1193;MIR494 UN 0.678514 0.7917 Uncertain 14_101496574_C->T 14 101496574 101496574 C T snp 222.77 0/1 99 16 9 7 0.44 downstream rs12435041 MIR1193 AU 0.423522 0.5655 Uncertain 14_101496579_C->G 14 101496579 101496579 C G snp 228.77 0/1 99 13 6 7 0.54 downstream rs12435042 MIR1193 AU 0.422923 0.5635 Uncertain 14_101498483_C->T 14 101498483 101498483 C T snp 312.77 0/1 99 29 15 14 0.48 downstream rs8018238 MIR543 AU 0.372204 0.5228 Uncertain 14_101507727_C->T 14 101507727 101507727 C T snp 1156.77 0/1 99 121 67 54 0.45 ncRNA_exonic rs12894467 MIR300 AU 0.602636 0.7798 0.468058 0.5098 0.7731 Uncertain 14_101512972_C->T 14 101512972 101512972 C T snp 368.77 0/1 99 31 16 15 0.48 ncRNA_intronic rs11160618 MIR381HG AU 0.30012 0.6548 Uncertain 14_101512974_A->G 14 101512974 101512974 A G snp 341.77 0/1 99 29 15 14 0.48 ncRNA_intronic rs10140057 MIR381HG AU 0.426518 0.6548 Uncertain 14_101514371_T->C 14 101514371 101514371 T C snp 1215.77 0/1 99 116 63 53 0.46 ncRNA_intronic rs10132916 MIR381HG AU 0.513578 0.7183 0.378449 Uncertain 14_101514903_-->GTGT 14 101514903 101514903 - GTGT indel 301.73 0/1 99 11 4 7 0.64 ncRNA_intronic MIR381HG AU 0.320687 0.6319 Uncertain 14_101514950_A->T 14 101514950 101514950 A T snp 857.77 0/1 99 61 24 37 0.61 ncRNA_intronic rs10144193 MIR381HG AU 0.414537 0.6885 0.247734 0.3058 0.7241 Uncertain 14_101518760_G->A 14 101518760 101518760 G A snp 890.77 0/1 99 71 30 41 0.58 upstream;downstream rs1951032 MIR487A;MIR381HG UN 0.287939 0.6538 0.154660 0.2731 0.6717 Uncertain 14_101518910_A->G 14 101518910 101518910 A G snp 2425.77 1/1 99 90 0 90 1.0 downstream rs4906032 MIR381HG AU 0.688299 0.9196 0.490194 0.5194 0.9173 Uncertain 14_101520527_A->C 14 101520527 101520527 A C snp 263.77 0/1 99 22 11 11 0.5 upstream rs28752084 MIR134 AU 0.338458 0.6865 Uncertain 14_101522556_T->C 14 101522556 101522556 T C snp 593.77 0/1 99 48 24 24 0.5 ncRNA_exonic rs56103835 MIR323B AU 0.297923 0.6677 0.157573 0.2714 0.6828 ID=CR148567;DIS=Chronic lymphocytic leukemia, susceptibility to;TAG=DP;PUB=24306027 DP Uncertain 14_101533288_A->G 14 101533288 101533288 A G snp 565.77 1/1 42 15 0 15 1.0 downstream rs8015875 MIR410 AU 0.51258 0.8423 Uncertain 14_102019191_T->A 14 102019191 102019191 T A snp 264.77 0/1 99 20 9 11 0.55 ncRNA_exonic rs77446871 DIO3OS AU 0.0121805 0.0238 Uncertain 14_102196930_T->C 14 102196930 102196930 T C snp 83.77 0/1 69 6 2 4 0.67 ncRNA_intronic rs12050380 LINC00239 AU 0.0824681 0.1498 Uncertain 14_102197694_G->A 14 102197694 102197694 G A snp 233.77 0/1 99 22 11 11 0.5 ncRNA_exonic rs72715630 LINC00239 AU 0.0806709 0.1498 0.0532 0.2424 -1.039 T Uncertain 14_102198596_C->T 14 102198596 102198596 C T snp 975.77 0/1 99 61 25 36 0.59 ncRNA_exonic rs3825559 LINC00239 AU 0.0744808 0.1508 0.0502 0.2639 Uncertain 14_102198689_C->T 14 102198689 102198689 C T snp 1865.77 0/1 99 163 82 81 0.5 ncRNA_exonic rs45481791 LINC00239 AU 0.0744808 0.1498 0.0527 0.2535 Uncertain 14_102228199_GGC->- 14 102228199 102228201 GGC - indel 425.73 0/1 99 21 11 10 0.48 UTR5 rs373744052 PPP2R5C AU 0.0732827 0.1448 0.113062 0.1714 0.5 Uncertain 14_102229440_T->C 14 102229440 102229440 T C snp 186.77 0/1 99 14 6 8 0.57 intronic rs75376491 PPP2R5C AU NM_001161726 exon2 c.1077+133T>C 0.0742812 0.1498 Uncertain 14_102285279_A->C 14 102285279 102285279 A C snp 476.77 0/1 99 42 21 21 0.5 intronic rs12433720 PPP2R5C AU NM_001161725 exon3 c.57098-49A>C 0.0794728 0.1429 0.0490 0.1387 Uncertain 14_102322996_C->G 14 102322996 102322996 C G snp 3328.77 0/1 99 230 97 133 0.58 intronic rs3742421 PPP2R5C AU NM_001161726 exon4 c.94792-26C>G 0.144768 0.1637 0.131785 0.1318 0.1639 Uncertain 14_102349540_C->T 14 102349540 102349540 C T snp 83.77 0/1 69 5 2 3 0.6 intronic rs1741125 PPP2R5C AU NM_001161726 exon6 c.121363-53C>T 0.376997 0.2788 0.342463 Uncertain 14_102349542_G->T 14 102349542 102349542 G T snp 83.77 0/1 69 5 2 3 0.6 intronic rs1741126 PPP2R5C AU NM_001161726 exon6 c.121363-51G>T 0.376997 0.2788 0.340838 Uncertain 14_102349907_A->G 14 102349907 102349907 A G snp 161.77 0/1 63 8 2 6 0.75 intronic rs2720207 PPP2R5C AU NM_001161726 exon7 c.121669+8A>G 0.378395 0.2788 0.360302 0.2490 0.2745 Uncertain 14_102356475_C->T 14 102356475 102356475 C T snp 804.77 0/1 99 90 55 35 0.39 intronic rs1904298 PPP2R5C AU NM_001161726 exon8 c.128343-98C>T 0.128794 0.1716 Uncertain 14_102359489_A->G 14 102359489 102359489 A G snp 2529.77 0/1 99 225 114 111 0.49 intronic rs2720219 PPP2R5C AU NM_001161726 exon9 c.131215+44A>G 0.305711 0.2758 0.295601 0.2097 0.2720 Uncertain 14_102360745_T->C 14 102360745 102360745 T C snp 1836.77 0/1 99 145 71 74 0.51 intronic rs7142002 PPP2R5C AU NM_001161726 exon10 c.132613-98T>C 0.112819 0.1687 Uncertain 14_102361064_A->C 14 102361064 102361064 A C snp 296.77 0/1 99 20 10 10 0.5 intronic rs7145448 PPP2R5C AU NM_001161726 exon10 c.132667+167A>C 0.109026 0.1687 Uncertain 14_102372728_G->A 14 102372728 102372728 G A snp 114.77 0/1 99 7 3 4 0.57 intronic rs144781324 PPP2R5C AU NM_001161726 exon12 c.144508-10G>A 0.00579073 0.0278 0.000077 0.0023 0.0285 Uncertain 14_102387599_A->C 14 102387599 102387599 A C snp 98.28 1/1 9 5 0 5 1.0 intronic rs730573 PPP2R5C AU NM_001161725 exon15 c.156054+3315A>C 0.246406 0.3056 0.6667 0.6 Uncertain 14_102391577_G->C 14 102391577 102391577 G C snp 5317.77 1/1 99 191 0 191 1.0 exonic rs3742424 PPP2R5C AU nonsynonymous SNV NM_178586 exon13 c.G1426C p.A476P 0.176717 0.3105 0.142396 0.1098 0.3097 0.25 T 1.000 P -1.060 T 0.01 T 0.02 T Pathogenic 14_102445607_T->C 14 102445607 102445607 T C snp 2636.77 1/1 99 90 0 90 1.0 intronic rs2273438 DYNC1H1 AD NM_001376 exon3 c.14627-48T>C 0.20008 0.251 0.151030 0.1409 0.2526 Uncertain 14_102449338_-->T 14 102449338 102449338 - T indel 2672.73 1/1 99 69 0 69 1.0 intronic rs3830914 DYNC1H1 AD NM_001376 exon6 c.18327-17insT 0.241813 0.252 0.193904 0.1611 0.2524 Uncertain 14_102451983_G->A 14 102451983 102451983 G A snp 3088.77 1/1 99 105 0 105 1.0 intronic rs2983422 DYNC1H1 AD NM_001376 exon8 c.20995-40G>A 0.241414 0.251 0.188711 0.1612 0.2526 Uncertain 14_102454115_A->G 14 102454115 102454115 A G snp 476.77 1/1 36 12 0 12 1.0 intronic rs12891749 DYNC1H1 AD NM_001376 exon9 c.22941+146A>G 0.243411 0.251 Uncertain 14_102454933_C->A 14 102454933 102454933 C A snp 2281.77 1/1 99 84 0 84 1.0 intronic rs4906172 DYNC1H1 AD NM_001376 exon10 c.24011-106C>A 0.391374 0.2986 Uncertain 14_102457817_T->A 14 102457817 102457817 T A snp 737.77 1/1 54 23 0 23 1.0 intronic rs2720205 DYNC1H1 AD NM_001376 exon11 c.26835-46T>A 0.251597 0.251 0.196398 0.1642 0.2561 Uncertain 14_102461209_A->G 14 102461209 102461209 A G snp 7361.77 1/1 99 250 0 250 1.0 intronic rs4900529 DYNC1H1 AD NM_001376 exon13 c.30158+23A>G 0.201478 0.251 0.154698 0.1424 0.2538 Uncertain 14_102463407_A->G 14 102463407 102463407 A G snp 3883.77 1/1 99 146 0 146 1.0 exonic rs12893215 DYNC1H1 AD synonymous SNV NM_001376 exon16 c.A3600G p.Q1200Q 0.201677 0.251 0.155082 0.1439 0.2552 CLINSIG=probable-non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=no_assertion_criteria_provided|criteria_provided\x2c_single_submitter;CLNACC=RCV000116915.2|RCV000124853.1;CLNDSDB=MedGen|MedGen;CLNDSDBID=CN169374|CN221809 Uncertain 14_102466178_A->G 14 102466178 102466178 A G snp 466.77 1/1 36 14 0 14 1.0 intronic rs8014930 DYNC1H1 AD NM_001376 exon17 c.35297-147A>G 0.196286 0.251 Uncertain 14_102466253_C->T 14 102466253 102466253 C T snp 1522.77 1/1 99 52 0 52 1.0 intronic rs8015117 DYNC1H1 AD NM_001376 exon17 c.35297-72C>T 0.254792 0.251 Uncertain 14_102467847_A->G 14 102467847 102467847 A G snp 2994.77 1/1 99 106 0 106 1.0 intronic rs2251644 DYNC1H1 AD NM_001376 exon21 c.36843-24A>G 0.273562 0.2976 0.205059 0.1752 0.2893 Uncertain 14_102470762_G->C 14 102470762 102470762 G C snp 220.84 1/1 18 6 0 6 1.0 intronic rs2749896 DYNC1H1 AD NM_001376 exon24 c.39826-92G>C 0.271166 0.2976 Uncertain 14_102476052_C->T 14 102476052 102476052 C T snp 260.8 1/1 21 7 0 7 1.0 intronic rs79075471 DYNC1H1 AD NM_001376 exon30 c.45151-127C>T 0.0820687 0.246 Uncertain 14_102483881_-->AGCT 14 102483881 102483881 - AGCT indel 3383.73 1/1 99 54 0 54 1.0 intronic rs3830915 DYNC1H1 AD NM_001376 exon40 c.52813+40insAGCT 0.196685 0.252 0.146166 0.1399 0.2497 Uncertain 14_102485052_T->- 14 102485052 102485052 T - indel 501.73 1/1 42 14 0 14 1.0 intronic rs3832930 DYNC1H1 AD NM_001376 exon41 c.53925+99delT 0.195088 0.251 Uncertain 14_102486200_G->A 14 102486200 102486200 G A snp 3570.77 1/1 99 128 1 127 0.99 intronic rs2180510 DYNC1H1 AD NM_001376 exon42 c.55201-29G>A 0.269968 0.2956 0.201138 0.1726 0.2877 Uncertain 14_102493761_A->G 14 102493761 102493761 A G snp 7327.77 1/1 99 250 0 250 1.0 exonic rs8010870 DYNC1H1 AD synonymous SNV NM_001376 exon46 c.A8928G p.L2976L 0.194688 0.248 0.147470 0.1387 0.2516 CLINSIG=probable-non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=no_assertion_criteria_provided|criteria_provided\x2c_single_submitter;CLNACC=RCV000116924.2|RCV000124855.1;CLNDSDB=MedGen|MedGen;CLNDSDBID=CN169374|CN221809 Uncertain 14_102494586_T->C 14 102494586 102494586 T C snp 629.77 1/1 48 19 0 19 1.0 intronic rs4906173 DYNC1H1 AD NM_001376 exon48 c.63450+108T>C 0.392572 0.2956 Uncertain 14_102496352_C->A 14 102496352 102496352 C A snp 1563.77 1/1 99 47 0 47 1.0 intronic rs2253998 DYNC1H1 AD NM_001376 exon50 c.65247+77C>A 0.375998 0.2867 Uncertain 14_102496395_GT->- 14 102496395 102496396 GT - indel 3017.73 1/1 99 80 0 80 1.0 intronic rs147293850 DYNC1H1 AD NM_001376 exon51 c.65470-103_65470-102delGT Uncertain 14_102510428_A->G 14 102510428 102510428 A G snp 380.77 1/1 30 10 0 10 1.0 intronic rs1190606 DYNC1H1 AD NM_001376 exon70 c.79354+46A>G 0.26238 0.373 0.217899 0.1564 0.3634 Uncertain 14_102510874_G->A 14 102510874 102510874 G A snp 5409.77 1/1 99 197 0 197 1.0 intronic rs2273440 DYNC1H1 AD NM_001376 exon71 c.79800+46G>A 0.351637 0.247 0.356220 0.2618 0.2533 Uncertain 14_102514227_T->C 14 102514227 102514227 T C snp 2939.77 1/1 99 113 0 113 1.0 exonic rs13749 DYNC1H1 AD synonymous SNV NM_001376 exon73 c.T13080C p.T4360T 0.347244 0.2897 0.303629 0.2292 0.2899 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000116909.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 14_102514435_T->G 14 102514435 102514435 T G snp 94.28 1/1 9 3 0 3 1.0 intronic rs2273656 DYNC1H1 AD NM_001376 exon73 c.83337+70T>G 0.132188 0.2421 Uncertain 14_102514713_G->A 14 102514713 102514713 G A snp 716.77 1/1 54 24 0 24 1.0 intronic rs941792 DYNC1H1 AD NM_001376 exon74 c.83824-139G>A 0.394569 0.2917 Uncertain 14_102515015_G->A 14 102515015 102515015 G A snp 1055.77 1/1 78 30 0 30 1.0 intronic rs1004903 DYNC1H1 AD NM_001376 exon74 c.83978+9G>A 0.314497 0.248 0.295325 0.2311 0.2531 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000116912.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 14_102548384_C->T 14 102548384 102548384 C T snp 1427.77 1/1 99 46 0 46 1.0 intronic rs6575895 HSP90AA1 AU NM_005348 exon2 c.399-63C>T 0.906749 0.999 Uncertain 14_102549839_A->G 14 102549839 102549839 A G snp 220.84 1/1 18 6 0 6 1.0 intronic rs7155973 HSP90AA1 AU NM_005348 exon4 c.1834-43A>G 0.933906 1 0.916628 0.9372 0.9998 Uncertain 14_102549873_G->A 14 102549873 102549873 G A snp 506.77 1/1 39 17 0 17 1.0 intronic rs7156529 HSP90AA1 AU NM_005348 exon4 c.1834-9G>A 0.110423 0.1458 0.082270 0.0654 0.1615 Uncertain 14_102551795_-->TAA 14 102551795 102551795 - TAA indel 6174.73 1/1 99 115 0 115 1.0 intronic rs112366592 HSP90AA1 AU NM_005348 exon8 c.3720+27insTAA 0.879792 0.9812 0.904043 0.9350 0.9992 Uncertain 14_102552773_A->G 14 102552773 102552773 A G snp 6988.77 1/1 99 246 0 246 1.0 intronic rs8004640 HSP90AA1 AU NM_005348 exon10 c.4667+58A>G 0.922524 1 Uncertain 14_102659667_T->C 14 102659667 102659667 T C snp 379.77 0/1 99 24 9 15 0.63 intronic rs8003556 WDR20 AU NM_001242414 exon2 c.53539-132T>C 0.34345 0.0823 Uncertain 14_102675350_G->C 14 102675350 102675350 G C snp 1914.77 0/1 99 183 105 78 0.43 exonic rs6575900 WDR20 AU synonymous SNV NM_001242416 exon2 c.G660C p.G220G 0.34385 0.0724 0.366831 0.2532 0.0587 1.000 P -1.059 T Likely benign 14_102692487_G->A 14 102692487 102692487 G A snp 56.74 1/1 6 3 0 3 1.0 intergenic rs78709784 WDR20 AU 0.0563099 0.0288 Uncertain 14_102692657_T->C 14 102692657 102692657 T C snp 341.77 0/1 99 35 22 13 0.37 intergenic rs8022651 WDR20 AU 0.284744 0.0744 0.2415 0.0485 0.33 T 0.0 P -0.921 T Uncertain 14_102695563_A->G 14 102695563 102695563 A G snp 40.77 0/1 69 8 5 3 0.38 UTR3 rs3087686 MOK AU 0.319089 0.0734 Uncertain 14_102695693_T->C 14 102695693 102695693 T C snp 620.77 0/1 99 67 43 24 0.36 exonic rs2236493 MOK AU nonsynonymous SNV NM_001272011 exon11 c.A1103G p.Q368R 0.299321 0.1429 0.301630 0.2361 0.1406 0.9 T 1.000 P -0.935 T 0.0 T 0.001 T Pathogenic 14_102696066_G->A 14 102696066 102696066 G A snp 255.77 0/1 99 14 5 9 0.64 intronic rs78527496 MOK AU NM_001272011 exon2 c.369+72G>A 0.0513179 0.0288 Uncertain 14_102717830_G->C 14 102717830 102717830 G C snp 1579.77 0/1 99 162 91 71 0.44 intronic rs2274814 MOK AU NM_001272011 exon7 c.22467-262G>C 0.0521166 0.0278 Uncertain 14_102718052_G->A 14 102718052 102718052 G A snp 770.77 0/1 99 60 26 34 0.57 intronic rs2274815 MOK AU NM_001272011 exon7 c.22467-40G>A 0.333466 0.0734 0.359479 0.2604 0.0627 Uncertain 14_102718419_A->G 14 102718419 102718419 A G snp 46.77 0/1 33 3 1 2 0.67 intronic rs28607975 MOK AU NM_001272011 exon8 c.22707+87A>G 0.285543 0.0734 Uncertain 14_102729792_G->T 14 102729792 102729792 G T snp 518.77 0/1 99 43 24 19 0.44 intronic rs45532034 MOK AU NM_001272011 exon9 c.34257-90G>T 0.052516 0.0298 Uncertain 14_102729886_G->A 14 102729886 102729886 G A snp 933.77 0/1 99 97 55 42 0.43 exonic rs34931752 MOK AU stopgain NM_001272011 exon3 c.C190T p.R64X 0.0507188 0.0298 0.055906 0.0441 0.0236 0.99 T 1.0 P Pathogenic 14_102745064_G->C 14 102745064 102745064 G C snp 470.77 0/1 99 37 15 22 0.59 intronic rs78824306 MOK AU NM_001272011 exon10 c.54189-4750G>C 0.0513179 0.0288 0.0367 0 Uncertain 14_102749758_C->T 14 102749758 102749758 C T snp 2189.77 0/1 99 200 105 95 0.47 intronic rs2183637 MOK AU NM_001272011 exon10 c.54189-56C>T 0.0533147 0.0288 Uncertain 14_102792386_T->C 14 102792386 102792386 T C snp 2932.77 0/1 99 250 136 114 0.46 exonic rs7158731 ZNF839 AU nonsynonymous SNV NM_001267827 exon2 c.T5C p.L2P 0.41853 0.3403 0.314446 0.2834 0.3452 1 T 0.0 P -0.954 T 0.0 T 0.0 T Pathogenic 14_102792631_G->A 14 102792631 102792631 G A snp 2662.77 0/1 99 217 103 114 0.53 exonic rs7158139 ZNF839 AU nonsynonymous SNV NM_001267827 exon2 c.G250A p.D84N 0.418131 0.3403 0.314281 0.2802 0.3415 1 T 0.0 P -0.990 T 0.0 T 0.0 T Pathogenic 14_102798055_G->A 14 102798055 102798055 G A snp 2907.77 0/1 99 237 106 131 0.55 exonic rs1543540 ZNF839 AU nonsynonymous SNV NM_001267827 exon3 c.G940A p.A314T 0.167133 0.2986 0.072504 0.1449 0.3508 0.21 T 0.0 P -0.982 T 0.431 T 0.026 T Pathogenic 14_102808330_C->T 14 102808330 102808330 C T snp 1959.77 0/1 99 191 105 86 0.45 exonic rs12590618 ZNF839 AU synonymous SNV NM_001267827 exon8 c.C2250T p.V750V 0.268171 0.496 0.254356 0.3027 0.4957 Uncertain 14_102814945_G->A 14 102814945 102814945 G A snp 956.77 0/1 99 74 32 42 0.57 exonic rs7012 CINP AU synonymous SNV NM_032630 exon5 c.C588T p.S196S 0.263978 0.4861 0.244503 0.3037 0.4969 Uncertain 14_102843039_A->C 14 102843039 102843039 A C snp 2554.77 0/1 99 213 99 114 0.54 UTR5 rs2296145 TECPR2 AR 0.0413339 0.0387 0.038059 0.0383 0.0280 Uncertain 14_102873886_A->G 14 102873886 102873886 A G snp 342.77 0/1 99 34 17 17 0.5 intronic rs60215817 TECPR2 AR NM_014844 exon3 c.30745+83A>G 0.260583 0.4673 Uncertain 14_102874740_T->C 14 102874740 102874740 T C snp 338.77 0/1 99 33 18 15 0.45 intronic rs77092091 TECPR2 AR NM_014844 exon4 c.31766-84T>C 0.0395367 0.0387 Uncertain 14_102881323_T->G 14 102881323 102881323 T G snp 174.9 1/1 15 6 0 6 1.0 intronic rs9324048 TECPR2 AR NM_014844 exon5 c.38072+193T>G 0.657748 0.6726 Uncertain 14_102891646_A->G 14 102891646 102891646 A G snp 656.77 0/1 99 54 29 25 0.46 intronic rs4906197 TECPR2 AR NM_014844 exon6 c.48570+18A>G 0.305511 0.2044 0.369676 0.3627 0.1612 Uncertain 14_102894593_G->A 14 102894593 102894593 G A snp 1201.77 1/1 93 45 0 45 1.0 exonic rs1309353 TECPR2 AR nonsynonymous SNV NM_014844 exon7 c.G958A p.V320I 0.860423 0.6746 0.965605 0.8833 0.6392 1 T 0.000 P -0.982 T 0.0 T 0.0 T Pathogenic 14_102898363_C->T 14 102898363 102898363 C T snp 578.77 0/1 99 86 58 28 0.33 exonic rs2273906 TECPR2 AR nonsynonymous SNV NM_014844 exon8 c.C1315T p.P439S 0.0429313 0.0387 0.034365 0.0392 0.0279 0.61 T 0.800 N -0.983 T 0.036 T 0.011 T Pathogenic 14_102900768_A->G 14 102900768 102900768 A G snp 2332.77 0/1 99 175 80 95 0.54 exonic rs17791240 TECPR2 AR synonymous SNV NM_014844 exon9 c.A1614G p.P538P 0.043131 0.0387 0.040212 0.0382 0.0280 Uncertain 14_102901201_A->G 14 102901201 102901201 A G snp 2927.77 0/1 99 235 129 106 0.45 exonic rs10149146 TECPR2 AR nonsynonymous SNV NM_014844 exon9 c.A2047G p.I683V 0.214856 0.1478 0.274181 0.2830 0.1195 0.0 P -0.938 T 0.0 T 0.0 T Pathogenic 14_102907037_G->A 14 102907037 102907037 G A snp 162.77 0/1 99 9 3 6 0.67 intronic rs2295974 TECPR2 AR NM_014844 exon11 c.63888+91G>A 0.043131 0.0387 Uncertain 14_102912391_C->T 14 102912391 102912391 C T snp 586.77 0/1 99 43 17 26 0.6 intronic rs78987088 TECPR2 AR NM_014844 exon13 c.69226+107C>T 0.043131 0.0387 Uncertain 14_102912394_A->G 14 102912394 102912394 A G snp 622.77 0/1 99 42 15 27 0.64 intronic rs115378843 TECPR2 AR NM_014844 exon13 c.69226+110A>G 0.043131 0.0387 Uncertain 14_102915904_G->A 14 102915904 102915904 G A snp 340.77 0/1 99 18 5 13 0.72 intronic rs76998408 TECPR2 AR NM_014844 exon14 c.72907-61G>A 0.043131 0.0387 Uncertain 14_102916318_T->C 14 102916318 102916318 T C snp 558.77 0/1 99 57 36 21 0.37 intronic rs2281702 TECPR2 AR NM_014844 exon14 c.73148+112T>C 0.043131 0.0387 Uncertain 14_102918686_T->C 14 102918686 102918686 T C snp 7443.77 1/1 99 249 1 248 1.0 intronic rs1190554 TECPR2 AR NM_014844 exon16 c.75672-44T>C 0.730232 0.6746 0.696599 0.6902 0.6816 Uncertain 14_102931360_A->G 14 102931360 102931360 A G snp 171.77 0/1 99 13 7 6 0.46 intronic rs2277467 TECPR2 AR NM_014844 exon17 c.88419-117A>G 0.043131 0.0387 Uncertain 14_102964654_A->G 14 102964654 102964654 A G snp 364.77 0/1 99 28 13 15 0.54 UTR3 rs2403058 TECPR2 AR 0.758786 0.7163 Uncertain 14_103059220_G->A 14 103059220 103059220 G A snp 231.77 0/1 99 27 14 13 0.48 UTR5 rs1057881 RCOR1 AU 0.54373 0.6359 0.7601 0.7065 Uncertain 14_103177420_G->C 14 103177420 103177420 G C snp 947.77 0/1 99 72 34 38 0.53 intronic rs3783383 RCOR1 AU NM_015156 exon7 c.118127+70G>C 0.458267 0.376 Uncertain 14_103193028_G->A 14 103193028 103193028 G A snp 250.77 0/1 99 21 11 10 0.48 UTR3 rs2295695 RCOR1 AU 0.271366 0.5615 Uncertain 14_103338324_T->A 14 103338324 103338324 T A snp 3081.77 0/1 99 249 123 126 0.51 intronic rs2295402 TRAF3 AU NM_145726 exon4 c.1767+19T>A 0.39976 0.3909 0.355221 0.2673 0.4044 Uncertain 14_103342049_T->C 14 103342049 103342049 T C snp 1184.77 0/1 99 106 51 55 0.52 exonic rs1131877 TRAF3 AU nonsynonymous SNV NM_003300 exon4 c.T386C p.M129T 0.469848 0.3978 0.430801 0.3155 0.4068 0.6 T 0.0 P -1.024 T 0.0 T 0.0 T Pathogenic 14_103357603_G->T 14 103357603 103357603 G T snp 458.77 0/1 99 75 53 22 0.29 intronic rs2273393 TRAF3 AU NM_145726 exon8 c.21123-58G>T 0.442891 0.3859 Uncertain 14_103370119_C->T 14 103370119 103370119 C T snp 1110.77 0/1 99 98 47 51 0.52 intronic rs10132977 TRAF3 AU NM_145726 exon10 c.33228+353C>T 0.373003 0.3819 0.1590 0.4244 Uncertain 14_103370163_C->T 14 103370163 103370163 C T snp 964.77 0/1 99 88 47 41 0.47 intronic rs9671376 TRAF3 AU NM_145726 exon10 c.33228+397C>T 0.465655 0.3859 0.2299 0.4481 Uncertain 14_103370412_G->C 14 103370412 103370412 G C snp 54.74 1/1 6 2 0 2 1.0 intronic rs182587616 TRAF3 AU NM_145726 exon10 c.33228+646G>C 0.00119808 0.006 Uncertain 14_103397055_G->C 14 103397055 103397055 G C snp 1345.77 1/1 96 51 0 51 1.0 UTR3 rs1190233 AMN AR 0.671725 0.6925 0.653902 0.7124 0.7349 Uncertain 14_103413941_T->C 14 103413941 103413941 T C snp 429.77 1/1 33 14 0 14 1.0 intronic rs8007924 CDC42BPB AU NM_006035 exon11 c.14009-116T>C 0.929712 0.9008 Uncertain 14_103414179_G->A 14 103414179 103414179 G A snp 1519.77 1/1 70 61 2 59 0.97 intronic rs12886225 CDC42BPB AU NM_006035 exon11 c.14091+40G>A 0.336661 0.4752 0.320602 0.3886 0.5074 Uncertain 14_103416096_G->A 14 103416096 103416096 G A snp 862.77 0/1 99 89 51 38 0.43 splicing rs12590961 CDC42BPB AU NM_006035 exon12 c.16053-5G>A 0.1248 0.3006 0.089113 0.1224 0.2833 Pathogenic 14_103434530_T->A 14 103434530 103434530 T A snp 770.77 1/1 57 22 0 22 1.0 intronic rs2093414 CDC42BPB AU NM_006035 exon22 c.34541-59T>A 0.891174 0.8988 Uncertain 14_103440282_G->T 14 103440282 103440282 G T snp 7119.77 1/1 99 249 0 249 1.0 intronic rs1018550 CDC42BPB AU NM_006035 exon26 c.40304-70G>T Uncertain 14_103440473_G->C 14 103440473 103440473 G C snp 2274.77 0/1 99 184 92 92 0.5 exonic rs8009219 CDC42BPB AU synonymous SNV NM_006035 exon12 c.C1521G p.L507L 0.590855 0.5764 0.588267 0.6551 0.5866 Uncertain 14_103449773_C->T 14 103449773 103449773 C T snp 545.77 1/1 42 18 0 18 1.0 intronic rs2269322 CDC42BPB AU NM_006035 exon31 c.49844-119C>T 0.341653 0.4762 Uncertain 14_103566904_G->A 14 103566904 103566904 G A snp 2935.77 1/1 99 101 2 99 0.98 exonic rs1057640 EXOC3L4 AU synonymous SNV NM_001077594 exon1 c.G348A p.Q116Q 0.203075 0.3433 0.128249 0.2116 0.3986 Uncertain 14_103568729_A->G 14 103568729 103568729 A G snp 5153.77 1/1 99 191 0 191 1.0 exonic rs10142200 EXOC3L4 AU synonymous SNV NM_001077594 exon2 c.A669G p.E223E 0.528355 0.6042 0.417039 0.5449 0.6907 Uncertain 14_103570134_-->GTGTGTGTGT 14 103570134 103570134 - GTGTGTGTGT indel 1785.73 1/1 51 18 0 18 1.0 intronic rs763940116 EXOC3L4 AU NM_001077594 exon3 c.3721-143insGTGTGTGTGT Uncertain 14_103570935_A->G 14 103570935 103570935 A G snp 379.77 1/1 30 10 0 10 1.0 intronic rs9324058 EXOC3L4 AU NM_001077594 exon5 c.4518-139A>G 0.530751 0.6071 Uncertain 14_103574714_C->T 14 103574714 103574714 C T snp 3901.77 1/1 99 147 0 147 1.0 intronic rs10144543 EXOC3L4 AU NM_001077594 exon10 c.8176-18C>T 0.505591 0.5694 0.451176 0.4620 0.5987 Uncertain 14_103576395_G->A 14 103576395 103576395 G A snp 2780.77 1/1 99 93 0 93 1.0 exonic rs729185 EXOC3L4 AU synonymous SNV NM_001077594 exon11 c.G2004A p.A668A 0.313099 0.4196 0.176457 0.3019 0.5009 Uncertain 14_103576443_T->C 14 103576443 103576443 T C snp 1749.77 0/1 99 133 60 73 0.55 exonic rs729183 EXOC3L4 AU synonymous SNV NM_001077594 exon11 c.T2052C p.T684T 0.563898 0.631 0.029089 0.4385 0.6802 Uncertain 14_103576444_C->G 14 103576444 103576444 C G snp 1751.77 0/1 99 133 60 73 0.55 exonic rs744153 EXOC3L4 AU nonsynonymous SNV NM_001077594 exon11 c.C2053G p.Q685E 0.563898 0.631 0.032131 0.4398 0.6799 0.3 T 0.0 P -1.092 T 0.271 T 0.207 T Pathogenic 14_103576775_C->T 14 103576775 103576775 C T snp 2970.77 1/1 99 113 1 112 0.99 UTR3 rs3870 EXOC3L4 AU 0.182508 0.3442 0.1553 0.3571 Uncertain 14_103576804_G->- 14 103576804 103576804 G - indel 2085.73 1/1 99 79 0 79 1.0 UTR3 rs11355422 EXOC3L4 AU 0.733227 0.6925 0.6249 0.7742 Uncertain 14_103852607_G->T 14 103852607 103852607 G T snp 1410.77 1/1 99 43 0 43 1.0 intronic rs12436956 MARK3 AU NM_001128919 exon1 c.51+190G>T 0.42512 0.4742 Uncertain 14_103852725_C->T 14 103852725 103852725 C T snp 4128.77 1/1 99 158 0 158 1.0 intronic rs3825566 MARK3 AU NM_001128919 exon1 c.51+308C>T 0.718051 0.8472 0.6369 0.8929 Uncertain 14_103871719_G->A 14 103871719 103871719 G A snp 81.28 1/1 9 4 0 4 1.0 intronic rs4243738 MARK3 AU NM_001128919 exon2 c.19238+115G>A 0.427716 0.5 Uncertain 14_103871723_T->C 14 103871723 103871723 T C snp 133.03 1/1 12 4 0 4 1.0 intronic rs2065020 MARK3 AU NM_001128919 exon2 c.19238+119T>C 0.966653 1 Uncertain 14_103928657_T->A 14 103928657 103928657 T A snp 2069.77 1/1 99 72 0 72 1.0 intronic rs4906326 MARK3 AU NM_001128919 exon7 c.76375-84T>A 0.965455 1 Uncertain 14_103931879_A->G 14 103931879 103931879 A G snp 2745.77 1/1 99 94 0 94 1.0 intronic rs1116095 MARK3 AU NM_001128919 exon8 c.79527-14A>G 0.420927 0.4762 0.316365 0.3505 0.4957 Uncertain 14_103932888_C->T 14 103932888 103932888 C T snp 1051.77 1/1 78 31 0 31 1.0 intronic rs1951393 MARK3 AU NM_001128919 exon10 c.80413+109C>T 0.963059 1 Uncertain 14_103933556_A->G 14 103933556 103933556 A G snp 832.77 1/1 60 31 0 31 1.0 intronic rs8010247 MARK3 AU NM_001128919 exon11 c.81162+28A>G 0.420927 0.4762 0.317771 0.3525 0.4989 Uncertain 14_103934488_T->C 14 103934488 103934488 T C snp 3583.77 1/1 99 130 0 130 1.0 exonic rs10137161 MARK3 AU nonsynonymous SNV NM_001128921 exon11 c.T992C p.F331S 1 1 1 1 1 T 0.018 P -0.931 T 0.0 T 0.0 T Pathogenic 14_103946636_A->G 14 103946636 103946636 A G snp 644.77 1/1 48 21 0 21 1.0 intronic rs8014010 MARK3 AU NM_001128919 exon14 c.94357-87A>G 0.968051 1 Uncertain 14_103986255_C->T 14 103986255 103986255 C T snp 2603.77 1/1 99 97 0 97 1.0 exonic rs1803283 CKB AU synonymous SNV NM_001823 exon8 c.G1092A p.E364E 0.638978 0.8224 0.583910 0.6598 0.8465 Uncertain 14_103987078_G->A 14 103987078 103987078 G A snp 724.77 1/1 54 21 0 21 1.0 intronic rs2071408 CKB AU NM_001823 exon3 c.729+149G>A 0.458466 0.499 Uncertain 14_103988180_G->T 14 103988180 103988180 G T snp 1145.77 1/1 81 50 0 50 1.0 exonic rs1136165 CKB AU synonymous SNV NM_001823 exon4 c.C456A p.R152R 0.657748 0.8264 0.633694 0.6909 0.8696 0.15 T 1.000 P -1.036 T Likely benign 14_103995489_C->G 14 103995489 103995489 C G snp 221.84 1/1 18 7 0 7 1.0 upstream rs2765038 TRMT61A AU 0.985224 1 Uncertain 14_103996396_G->A 14 103996396 103996396 G A snp 2000.77 1/1 99 76 0 76 1.0 exonic rs2765037 TRMT61A AU synonymous SNV NM_152307 exon2 c.G81A p.A27A 0.986222 1 0.983849 0.9956 0.9999 Uncertain 14_103996733_C->G 14 103996733 103996733 C G snp 1111.77 1/1 81 33 0 33 1.0 intronic rs2756138 TRMT61A AU NM_152307 exon2 c.331+87C>G 0.779353 0.6845 Uncertain 14_104000803_G->- 14 104000803 104000803 G - indel 287.75 1/1 24 8 0 8 1.0 intronic rs11350625 TRMT61A AU NM_152307 exon4 c.4571-83delG 0.482029 0.5099 Uncertain 14_104001517_G->A 14 104001517 104001517 G A snp 4113.77 1/1 99 158 1 157 0.99 UTR3 rs2756119 TRMT61A AU 0.440695 0.5238 0.4784 0.555 Uncertain 14_104136470_T->- 14 104136470 104136470 T - indel 4221.73 1/1 99 101 0 101 1.0 intronic rs11333716 KLC1 AU NM_182923 exon7 c.15617-48delT 0.926118 0.9812 0.937700 0.9564 0.9837 Uncertain 14_104139570_G->T 14 104139570 104139570 G T snp 2476.77 1/1 99 93 0 93 1.0 intronic rs11160757 KLC1 AU NM_182923 exon8 c.18623+46G>T 0.919529 0.9812 0.932913 0.9550 0.9839 Uncertain 14_104143928_A->C 14 104143928 104143928 A C snp 3138.77 1/1 99 107 0 107 1.0 intronic rs4906357 KLC1 AU NM_182923 exon12 c.22959+68A>C 0.919329 0.9812 Uncertain 14_104177190_-->AC 14 104177190 104177190 - AC indel 915.73 1/1 38 26 1 25 0.96 intronic rs139961690 XRCC3 AU,AD NM_005432 exon7 c.12235-179insAC 0.441893 0.5476 Uncertain 14_104194196_C->G 14 104194196 104194196 C G snp 4461.77 1/1 99 161 1 160 0.99 exonic rs1535100 ZFYVE21 AU synonymous SNV NM_001198953 exon3 c.C303G p.L101L 0.889976 0.9633 0.911810 0.9080 0.9616 Uncertain 14_104322394_A->C 14 104322394 104322394 A C snp 261.8 1/1 21 7 0 7 1.0 ncRNA_intronic rs6576006 LINC00637 AU 0.757788 0.6944 Uncertain 14_104394835_T->C 14 104394835 104394835 T C snp 2366.77 1/1 99 91 0 91 1.0 UTR5 rs9324065 TDRD9 AU 0.997204 0.9861 0.9995 0.9858 Uncertain 14_104394850_C->T 14 104394850 104394850 C T snp 2739.77 1/1 99 106 0 106 1.0 exonic rs9324066 TDRD9 AU synonymous SNV NM_153046 exon1 c.C4T p.L2L 0.460863 0.3869 0.435611 0.4256 0.4332 Uncertain 14_104429302_-->GTGT 14 104429302 104429302 - GTGT indel 448.75 1/1 24 8 0 8 1.0 intronic rs140667603 TDRD9 AU NM_153046 exon3 c.34569-113insGTGT Uncertain 14_104429453_A->G 14 104429453 104429453 A G snp 1634.77 1/1 99 64 0 64 1.0 exonic rs6576013 TDRD9 AU synonymous SNV NM_153046 exon3 c.A360G p.T120T 0.955072 1 0.9860 1 Uncertain 14_104436931_C->T 14 104436931 104436931 C T snp 3119.77 1/1 99 124 0 124 1.0 exonic rs11851097 TDRD9 AU synonymous SNV NM_153046 exon6 c.C819T p.L273L 0.351438 0.3353 0.359834 0.3603 0.3713 Uncertain 14_104441925_C->T 14 104441925 104441925 C T snp 1322.77 1/1 96 38 0 38 1.0 intronic rs10147923 TDRD9 AU NM_153046 exon7 c.47044+35C>T 0.322883 0.3343 0.335668 0.3648 0.3684 Uncertain 14_104452405_C->G 14 104452405 104452405 C G snp 2536.77 1/1 99 82 0 82 1.0 intronic rs10143030 TDRD9 AU NM_153046 exon8 c.57707-148C>G 0.321885 0.3343 Uncertain 14_104452640_G->A 14 104452640 104452640 G A snp 4292.77 1/1 99 151 0 151 1.0 exonic rs10143389 TDRD9 AU synonymous SNV NM_153046 exon8 c.G1098A p.L366L 0.322085 0.3343 0.331386 0.3549 0.3561 1.0 P -0.967 T Likely benign 14_104465037_T->C 14 104465037 104465037 T C snp 1593.77 1/1 99 60 0 60 1.0 exonic rs10133836 TDRD9 AU synonymous SNV NM_153046 exon13 c.T1455C p.A485A 0.941693 1 0.935953 0.9822 0.9999 1.000 P -1.029 T Likely benign 14_104470686_G->A 14 104470686 104470686 G A snp 1354.77 1/1 99 39 0 39 1.0 intronic rs28391043 TDRD9 AU NM_153046 exon14 c.75826+14G>A 0.319089 0.3393 0.323466 0.3488 0.3681 Uncertain 14_104471857_C->T 14 104471857 104471857 C T snp 1091.77 1/1 81 34 0 34 1.0 intronic rs12147828 TDRD9 AU NM_153046 exon15 c.76896+115C>T 0.365016 0.3403 Uncertain 14_104473253_A->G 14 104473253 104473253 A G snp 658.77 1/1 51 21 0 21 1.0 intronic rs4900607 TDRD9 AU NM_153046 exon18 c.78336+71A>G 0.444489 0.4117 Uncertain 14_104473744_G->A 14 104473744 104473744 G A snp 50.74 1/1 6 2 0 2 1.0 intronic rs12100528 TDRD9 AU NM_153046 exon19 c.78695+203G>A 0.3752 0.3403 Uncertain 14_104475034_A->G 14 104475034 104475034 A G snp 250.8 1/1 21 8 0 8 1.0 intronic rs4906401 TDRD9 AU NM_153046 exon20 c.79957+231A>G 0.365216 0.3403 Uncertain 14_104481016_G->A 14 104481016 104481016 G A snp 1662.77 1/1 99 50 0 50 1.0 intronic rs7150795 TDRD9 AU NM_153046 exon21 c.86215-45G>A 0.896366 0.9871 0.915116 0.9548 0.9874 Uncertain 14_104481083_T->C 14 104481083 104481083 T C snp 4239.77 1/1 99 155 1 154 0.99 exonic rs11160779 TDRD9 AU synonymous SNV NM_153046 exon21 c.T2128C p.L710L 0.320288 0.3393 0.323774 0.3428 0.3639 1.000 P -1.018 T Likely benign 14_104481200_-->T 14 104481200 104481200 - T indel 4907.73 1/1 99 178 0 178 1.0 intronic rs397949797 TDRD9 AU NM_153046 exon21 c.86332+22insT 0.397764 0.3988 0.398243 0.3936 0.4370 Uncertain 14_104491087_ACACACACACAC->- 14 104491087 104491098 ACACACACACAC - indel 1300.73 1/1 33 23 0 23 1.0 intronic rs60394937 TDRD9 AU NM_153046 exon25 c.96171+70_96171+81delACACACACACAC Uncertain 14_104497543_C->T 14 104497543 104497543 C T snp 3743.77 1/1 99 148 2 146 0.99 exonic rs10135507 TDRD9 AU synonymous SNV NM_153046 exon29 c.C3381T p.L1127L 0.319289 0.3353 0.322164 0.3370 0.3878 Uncertain 14_104498472_G->A 14 104498472 104498472 G A snp 530.77 1/1 39 18 0 18 1.0 intronic rs4906405 TDRD9 AU NM_153046 exon30 c.103578+48G>A 0.946286 1 0.945443 0.9830 1 Uncertain 14_104500427_A->G 14 104500427 104500427 A G snp 3503.77 1/1 99 126 0 126 1.0 intronic rs10150865 TDRD9 AU NM_153046 exon31 c.105560+21A>G 0.946286 1 0.945466 0.9827 1 Uncertain 14_104559623_T->C 14 104559623 104559623 T C snp 2771.77 1/1 99 101 0 101 1.0 intronic rs941952 ASPG AU NM_001080464 exon3 c.7720-204T>C 0.8127 0.878 0.7889 0.8652 0.0 P -1.006 T 0.0 T 0.0 T Uncertain 14_104561998_T->C 14 104561998 104561998 T C snp 6318.77 1/1 99 233 0 233 1.0 splicing rs1770983 ASPG AU NM_001080464 exon4 c.9886+5T>C 0.814097 0.8938 0.737011 0.7775 0.8836 Pathogenic 14_104563874_C->T 14 104563874 104563874 C T snp 2424.77 1/1 99 96 0 96 1.0 intronic rs7156718 ASPG AU NM_001080464 exon5 c.11783-16C>T 0.479233 0.5169 0.555499 0.5851 0.5653 Uncertain 14_104569801_C->G 14 104569801 104569801 C G snp 489.77 1/1 36 19 0 19 1.0 intronic rs8012482 ASPG AU NM_001080464 exon7 c.17792-98C>G 0.566693 0.626 Uncertain 14_104570904_T->C 14 104570904 104570904 T C snp 2804.77 1/1 99 97 0 97 1.0 intronic rs1744299 ASPG AU NM_001080464 exon9 c.18851-54T>C 0.967851 1 Uncertain 14_104571826_A->G 14 104571826 104571826 A G snp 1255.77 1/1 93 37 0 37 1.0 intronic rs1744300 ASPG AU NM_001080464 exon10 c.19680+39A>G 0.967252 0.997 0.964280 0.9836 0.9973 Uncertain 14_104573690_A->G 14 104573690 104573690 A G snp 1875.77 1/1 99 69 0 69 1.0 intronic rs1744301 ASPG AU NM_001080464 exon12 c.21575+8A>G 0.967851 1 0.962468 0.9905 1 Uncertain 14_104575466_C->T 14 104575466 104575466 C T snp 1158.77 1/1 84 38 0 38 1.0 intronic rs1771012 ASPG AU NM_001080464 exon13 c.23458-99C>T 0.965256 1 Uncertain 14_104618917_G->T 14 104618917 104618917 G T snp 56.74 1/1 6 2 0 2 1.0 intronic rs8012419 KIF26A AU NM_015656 exon3 c.13739+119G>T 0.792931 0.6409 Uncertain 14_104640011_T->C 14 104640011 104640011 T C snp 1195.77 1/1 87 38 0 38 1.0 intronic rs2275593 KIF26A AU NM_015656 exon10 c.34983-31T>C 0.269968 0.3938 0.230135 0.3283 0.4049 Uncertain 14_104641612_T->C 14 104641612 104641612 T C snp 6972.77 1/1 99 250 0 250 1.0 exonic rs4906422 KIF26A AU synonymous SNV NM_015656 exon12 c.T2487C p.G829G 0.294529 0.3998 0.233789 0.3320 0.4014 Uncertain 14_104642341_A->G 14 104642341 104642341 A G snp 6193.77 1/1 99 228 0 228 1.0 exonic rs2487304 KIF26A AU synonymous SNV NM_015656 exon12 c.A3216G p.P1072P 0.778355 0.7897 0.762101 0.7689 0.7811 Uncertain 14_104642422_A->G 14 104642422 104642422 A G snp 4656.77 1/1 99 173 0 173 1.0 exonic rs3742947 KIF26A AU synonymous SNV NM_015656 exon12 c.A3297G p.A1099A 0.311302 0.4067 0.227086 0.4182 0.4918 Uncertain 14_104643409_A->G 14 104643409 104643409 A G snp 2328.77 1/1 99 82 0 82 1.0 exonic rs2487303 KIF26A AU synonymous SNV NM_015656 exon12 c.A4284G p.A1428A 0.773163 0.7827 0.760729 0.7557 0.7741 Uncertain 14_104644147_C->T 14 104644147 104644147 C T snp 1523.77 1/1 99 56 0 56 1.0 exonic rs11621644 KIF26A AU synonymous SNV NM_015656 exon12 c.C5022T p.S1674S 0.315695 0.4415 0.246237 0.4868 0.5750 Uncertain 14_104645576_C->G 14 104645576 104645576 C G snp 442.77 0/1 99 28 9 19 0.68 exonic rs370392844 KIF26A AU nonsynonymous SNV NM_015656 exon14 c.C5320G p.L1774V 0.00399361 0.001 0.0163 0 1 T 1 N -0.897 T 0.042 T 0.074 T Pathogenic 14_104646162_C->T 14 104646162 104646162 C T snp 525.77 0/1 99 30 8 22 0.73 UTR3 rs45488896 KIF26A AU 0.00599042 0.002 0.018258 0.0250 0.0040 Uncertain 14_104646839_A->G 14 104646839 104646839 A G snp 46.77 0/1 33 3 1 2 0.67 UTR3 rs11160791 KIF26A AU 0.0221645 0.002 Uncertain 14_104710505_T->G 14 104710505 104710505 T G snp 945.77 1/1 33 34 1 33 0.97 intergenic rs7142555 KIF26A AU 0.732228 0.6399 Uncertain 14_104940930_C->T 14 104940930 104940930 C T snp 5094.77 1/1 99 190 0 190 1.0 intergenic rs28453989 KIF26A AU 1 1 Uncertain 14_104940979_G->C 14 104940979 104940979 G C snp 1798.77 0/1 99 149 73 76 0.51 intergenic rs74089065 KIF26A AU 0.0455272 0.119 0.0222 0.1119 Uncertain 14_104979486_T->C 14 104979486 104979486 T C snp 176.9 1/1 15 5 0 5 1.0 intergenic rs4264325 KIF26A AU 0.977636 0.998 Uncertain 14_105052640_A->G 14 105052640 105052640 A G snp 949.77 1/1 72 29 0 29 1.0 intronic rs35246301 C14orf180 AU 0.330272 0.5823 Uncertain 14_105052936_G->T 14 105052936 105052936 G T snp 82.77 0/1 99 10 4 6 0.6 intronic C14orf180 AU NM_001286399 exon2 c.111+58G>T Uncertain 14_105054260_A->G 14 105054260 105054260 A G snp 1603.77 1/1 91 61 1 60 0.98 intronic rs9788527 C14orf180 AU NM_001286399 exon3 c.1448+45A>G 0.390974 0.6081 0.243867 0.2133 0.5579 Uncertain 14_105054709_T->A 14 105054709 105054709 T A snp 3376.77 1/1 99 123 0 123 1.0 intronic rs9788432 C14orf180 AU NM_001286399 exon4 c.1879+63T>A 0.26278 0.5853 0.106877 Uncertain 14_105054934_A->G 14 105054934 105054934 A G snp 999.77 1/1 72 38 0 38 1.0 exonic rs12880814 C14orf180 AU synonymous SNV NM_001008404 exon5 c.A297G p.P99P 0.421326 0.6002 0.206928 0.4213 0.6066 Uncertain 14_105055119_GACGGGCAG->- 14 105055119 105055127 GACGGGCAG - indel 6218.73 1/1 99 74 0 74 1.0 exonic rs111285011 C14orf180 AU frameshift deletion NM_001008404 exon5 c.482_819del p.*161fs 0.601438 0.6954 0.377023 0.4310 0.6901 ID=COSM1578374;OCCURENCE=1(lung) Pathogenic 14_105055292_G->- 14 105055292 105055292 G - indel 1619.73 1/1 99 51 0 51 1.0 UTR3 rs3840008 C14orf180 AU Uncertain 14_105055304_A->G 14 105055304 105055304 A G snp 1257.77 1/1 90 43 0 43 1.0 UTR3 rs11160811 C14orf180 AU 0.761581 0.9772 Uncertain 14_105055351_T->C 14 105055351 105055351 T C snp 299.77 0/1 99 17 7 10 0.59 UTR3 rs142719723 C14orf180 AU 0.000399361 0.002 Uncertain 14_105150273_C->T 14 105150273 105150273 C T snp 1361.77 1/1 99 42 0 42 1.0 intergenic rs7153053 MIR4710 AU 0.510982 0.6647 Uncertain 14_105167807_C->T 14 105167807 105167807 C T snp 2592.77 1/1 99 93 1 92 0.99 exonic rs4983530 INF2 AU,AD synonymous SNV NM_022489 exon2 c.C105T p.P35P 0.986621 1 0.982271 0.9783 1 Uncertain 14_105173831_G->T 14 105173831 105173831 G T snp 1368.77 0/1 99 99 43 56 0.57 exonic rs3809455 INF2 AU,AD synonymous SNV NM_022489 exon8 c.G1227T p.S409S 0.0646965 0.1399 0.026130 0.0847 0.1123 Uncertain 14_105177352_A->- 14 105177352 105177352 A - indel 8735.73 1/1 99 194 0 194 1.0 intronic rs3840006 INF2 AU,AD NM_001031714 exon14 c.9642+8delA 0.694888 0.9167 0.571609 0.6110 0.9149 Uncertain 14_105178089_T->C 14 105178089 105178089 T C snp 766.77 1/1 57 24 0 24 1.0 intronic rs4983531 INF2 AU,AD NM_001031714 exon16 c.10334+53T>C 0.695088 0.9147 Uncertain 14_105178098_G->C 14 105178098 105178098 G C snp 615.77 1/1 45 19 0 19 1.0 intronic rs4983532 INF2 AU,AD NM_001031714 exon16 c.10334+62G>C 0.694489 0.9147 Uncertain 14_105178153_C->T 14 105178153 105178153 C T snp 141.03 1/1 12 4 0 4 1.0 intronic rs4983533 INF2 AU,AD NM_001031714 exon16 c.10334+117C>T 0.694089 0.9147 Uncertain 14_105179043_G->C 14 105179043 105179043 G C snp 1005.77 1/1 75 33 0 33 1.0 intronic rs4497619 INF2 AU,AD NM_001031714 exon18 c.11462-121G>C 0.891573 0.9484 Uncertain 14_105179081_G->A 14 105179081 105179081 G A snp 1311.77 1/1 96 42 0 42 1.0 intronic rs10144190 INF2 AU,AD NM_001031714 exon18 c.11462-83G>A 0.640775 0.9137 Uncertain 14_105179194_T->C 14 105179194 105179194 T C snp 3092.77 1/1 99 118 0 118 1.0 exonic rs10133301 INF2 AU,AD synonymous SNV NM_022489 exon18 c.T2640C p.D880D 0.909345 0.9484 0.880299 0.8608 0.9439 Uncertain 14_105180484_C->T 14 105180484 105180484 C T snp 1233.77 1/1 90 41 0 41 1.0 intronic rs9672043 INF2 AU,AD NM_001031714 exon21 c.12837-55C>T 0.844249 0.9325 Uncertain 14_105180565_T->C 14 105180565 105180565 T C snp 2552.77 1/1 99 92 0 92 1.0 exonic rs4983535 INF2 AU,AD synonymous SNV NM_022489 exon21 c.T3066C p.D1022D 0.844249 0.9325 0.797528 0.8060 0.9331 Uncertain 14_105180706_A->C 14 105180706 105180706 A C snp 5411.77 1/1 99 206 0 206 1.0 exonic rs1128840 INF2 AU,AD synonymous SNV NM_022489 exon21 c.A3207C p.P1069P 0.694888 0.9137 0.649784 0.6103 0.9140 Uncertain 14_105196230_A->C 14 105196230 105196230 A C snp 1028.77 1/1 78 35 0 35 1.0 exonic rs80097179 ADSSL1 AR nonsynonymous SNV NM_199165 exon1 c.A1C p.M1L 0.376198 0.5774 0.269423 0 D 0.000 P -0.939 T 0.003 T 0.0 T Pathogenic 14_105196235_G->A 14 105196235 105196235 G A snp 509.77 0/1 99 38 19 19 0.5 exonic rs34672588 ADSSL1 AR synonymous SNV NM_199165 exon1 c.G6A p.V2V 0.534345 0.6042 0.463927 0.4124 0.2826 Uncertain 14_105196365_T->C 14 105196365 105196365 T C snp 1682.77 1/1 99 67 0 67 1.0 exonic rs33958252 ADSSL1 AR synonymous SNV NM_199165 exon1 c.T136C p.L46L 0.609225 0.6111 0.551120 0.5832 0.6665 Uncertain 14_105201596_T->C 14 105201596 105201596 T C snp 600.77 1/1 45 19 1 18 0.95 intronic rs7149183 ADSSL1 AR NM_199165 exon2 c.5230+137T>C 0.5623 0.6438 Uncertain 14_105207134_A->G 14 105207134 105207134 A G snp 4768.77 1/1 99 162 0 162 1.0 intronic rs3803307 ADSSL1 AR NM_199165 exon7 c.10946-41A>G 0.666334 0.6458 0.583654 0.5451 0.6361 Uncertain 14_105208037_A->C 14 105208037 105208037 A C snp 960.77 1/1 72 25 0 25 1.0 intronic rs4983539 ADSSL1 AR NM_199165 exon9 c.11955-147A>C 0.54972 0.6419 Uncertain 14_105208057_C->T 14 105208057 105208057 C T snp 1242.77 1/1 93 39 0 39 1.0 intronic rs4983384 ADSSL1 AR NM_199165 exon9 c.11955-127C>T 0.404553 0.6141 Uncertain 14_105209667_A->T 14 105209667 105209667 A T snp 3047.77 1/1 99 91 0 91 1.0 intronic rs4587901 ADSSL1 AR NM_199165 exon10 c.13299+139A>T 0.224241 0.5248 Uncertain 14_105211221_C->T 14 105211221 105211221 C T snp 2426.77 1/1 99 90 0 90 1.0 exonic rs12432802 ADSSL1 AR synonymous SNV NM_152328 exon11 c.C1146T p.N382N 0.203674 0.5228 0.063048 0.1266 0.5138 Uncertain 14_105211426_G->A 14 105211426 105211426 G A snp 294.78 1/1 24 9 0 9 1.0 intronic rs7155192 ADSSL1 AR NM_199165 exon11 c.15017+180G>A 0.664936 0.6438 Uncertain 14_105212399_T->C 14 105212399 105212399 T C snp 224.84 1/1 18 6 0 6 1.0 intronic rs4983543 ADSSL1 AR NM_199165 exon12 c.16343-173T>C 0.687101 0.6438 Uncertain 14_105213343_A->G 14 105213343 105213343 A G snp 3632.77 1/1 99 131 0 131 1.0 UTR3 rs6644 ADSSL1 AR 0.687101 0.6438 0.599877 0.5493 0.6336 Uncertain 14_105219467_A->G 14 105219467 105219467 A G snp 681.77 1/1 51 19 0 19 1.0 upstream rs3809453 SIVA1 AU 0.639976 0.6548 Uncertain 14_105219976_T->C 14 105219976 105219976 T C snp 2336.77 1/1 99 76 0 76 1.0 intronic rs12889167 SIVA1 AU NM_006427 exon1 c.118+320T>C 0.529353 0.6528 Uncertain 14_105220210_G->A 14 105220210 105220210 G A snp 2491.77 1/1 99 85 0 85 1.0 intronic rs7151424 SIVA1 AU NM_006427 exon1 c.118+554G>A 0.632188 0.6528 0.6091 0.6748 0.000 P Uncertain 14_105222037_C->T 14 105222037 105222037 C T snp 1841.77 1/1 99 65 0 65 1.0 exonic rs1132975 SIVA1 AU synonymous SNV NM_006427 exon2 c.C189T p.A63A 0.433307 0.624 0.315700 0.3892 0.6087 0.001 P -0.919 T Likely benign 14_105222819_TGGGGA->- 14 105222819 105222824 TGGGGA - indel 467.73 0/1 99 14 6 8 0.57 intronic rs200065076 SIVA1 AU NM_006427 exon3 c.3402-121_3402-116delTGGGGA 0.00499201 0.0248 Uncertain 14_105223194_-->AT 14 105223194 105223194 - AT indel 1443.73 1/1 81 28 0 28 1.0 intronic rs34992074 SIVA1 AU NM_006427 exon3 c.3559+97insAT 0.631789 0.6538 Uncertain 14_105223457_C->T 14 105223457 105223457 C T snp 139.03 1/1 12 4 0 4 1.0 intronic rs12587551 SIVA1 AU NM_006427 exon3 c.3559+360C>T 0.552915 0.6379 Uncertain 14_105223525_T->C 14 105223525 105223525 T C snp 922.77 1/1 69 26 0 26 1.0 intronic rs12590163 SIVA1 AU NM_006427 exon3 c.3559+428T>C 0.617412 0.6538 Uncertain 14_105233095_C->A 14 105233095 105233095 C A snp 1860.77 1/1 99 67 0 67 1.0 intergenic rs2498804 SIVA1 AU 0.430511 0.6339 0.4181 0.5833 Uncertain 14_105238592_CTGAG->- 14 105238592 105238596 CTGAG - indel 4106.73 1/1 99 50 0 50 1.0 intronic rs55839843 AKT1 AU,AD NM_005163 exon3 c.2024-109_2024-105delCTGAG 0.420128 0.62 Uncertain 14_105238604_C->T 14 105238604 105238604 C T snp 1655.77 1/1 99 58 0 58 1.0 intronic rs2498800 AKT1 AU,AD NM_005163 exon3 c.2024-97C>T 0.422125 0.62 Uncertain 14_105239192_T->C 14 105239192 105239192 T C snp 222.84 1/1 18 6 0 6 1.0 intronic rs2494732 AKT1 AU,AD NM_005163 exon4 c.2537-22T>C 0.574081 0.7341 0.453014 0.5225 0.7430 Uncertain 14_105239894_C->T 14 105239894 105239894 C T snp 2039.77 1/1 99 69 1 68 0.99 exonic rs1130233 AKT1 AU,AD synonymous SNV NM_005163 exon9 c.G726A p.E242E 0.322484 0.6002 0.201630 0.3141 0.5872 ID=COSM3765730;OCCURENCE=1(liver),1(urinary_tract) ID=CM081515;DIS=Schizophrenia, familial, association with;TAG=DFP;PUB=18497887 DFP Uncertain 14_105240530_T->C 14 105240530 105240530 T C snp 136.03 1/1 12 4 0 4 1.0 intronic rs2498798 AKT1 AU,AD NM_005163 exon7 c.3640+213T>C 1 1 Uncertain 14_105242228_T->C 14 105242228 105242228 T C snp 3168.77 1/1 99 92 0 92 1.0 intronic rs2498797 AKT1 AU,AD NM_005163 exon10 c.5459+92T>C 0.52476 0.6409 Uncertain 14_105242831_C->T 14 105242831 105242831 C T snp 389.77 1/1 30 11 0 11 1.0 intronic rs3001371 AKT1 AU,AD NM_005163 exon11 c.6318-164C>T 0.423722 0.621 Uncertain 14_105242966_T->C 14 105242966 105242966 T C snp 3960.77 1/1 99 150 0 150 1.0 intronic rs2494735 AKT1 AU,AD NM_005163 exon11 c.6318-29T>C 0.596446 0.6548 0.471778 0.4648 0.6490 Uncertain 14_105243220_G->A 14 105243220 105243220 G A snp 262.8 1/1 21 7 0 7 1.0 intronic rs2498796 AKT1 AU,AD NM_005163 exon11 c.6430+113G>A 0.436502 0.621 Uncertain 14_105246325_T->A 14 105246325 105246325 T A snp 471.77 1/1 36 13 0 13 1.0 intronic rs2494737 AKT1 AU,AD NM_005163 exon12 c.9747-99T>A 0.513778 0.6478 Uncertain 14_105246686_G->A 14 105246686 105246686 G A snp 659.77 1/1 51 20 0 20 1.0 intronic rs2494738 AKT1 AU,AD NM_005163 exon12 c.9876+133G>A 0.205272 0.5258 Uncertain 14_105349687_C->T 14 105349687 105349687 C T snp 2423.77 0/1 99 240 142 98 0.41 exonic rs201541467 CEP170B AU nonsynonymous SNV NM_001112726 exon8 c.C893T p.P298L 0.00379393 0.0139 0.000488 0.0022 0.0176 0.23 T 1.000 N -1.020 T 0.138 T 0.009 T Pathogenic 14_105393556_G->C 14 105393556 105393556 G C snp 665.77 0/1 99 70 40 30 0.43 exonic rs2841280 PLD4 AU nonsynonymous SNV NM_138790 exon2 c.G79C p.E27Q 0.411941 0.5982 0.373249 0.4507 0.5917 0.55 T 0.0 P -0.946 T 0.15 T 0.017 T Pathogenic 14_105395429_A->G 14 105395429 105395429 A G snp 99.77 0/1 99 11 7 4 0.36 intronic rs2841283 PLD4 AU NM_138790 exon4 c.1792+160A>G 0.65655 0.756 Uncertain 14_105398787_G->C 14 105398787 105398787 G C snp 104.77 0/1 99 12 8 4 0.33 intronic rs2582533 PLD4 AU NM_138790 exon10 c.5215+95G>C 0.583466 0.4117 Uncertain 14_105404384_T->C 14 105404384 105404384 T C snp 1139.77 0/1 99 123 72 51 0.41 UTR3 rs1048257 AHNAK2 AU 0.553514 0.4107 0.582770 0.5464 0.4327 Uncertain 14_105405599_G->C 14 105405599 105405599 G C snp 2016.77 0/1 99 135 65 70 0.52 exonic rs3742935 AHNAK2 AU nonsynonymous SNV NM_138420 exon7 c.C16189G p.P5397A 0.555112 0.4117 0.584308 0.5452 0.4327 0.79 T 0.013 P -1.219 T 0.975 D 0.672 D Pathogenic 14_105405942_G->A 14 105405942 105405942 G A snp 2154.77 0/1 99 142 67 75 0.53 exonic rs28454709 AHNAK2 AU synonymous SNV NM_138420 exon7 c.C15846T p.L5282L 0.554912 0.4107 0.585407 0.5455 0.4336 Uncertain 14_105406238_A->C 14 105406238 105406238 A C snp 2665.77 0/1 99 250 140 110 0.44 exonic rs2819419 AHNAK2 AU nonsynonymous SNV NM_138420 exon7 c.T15550G p.Y5184D 0.590855 0.4127 0.610858 0.5535 0.4340 0.61 T 0.0 P -1.097 T 0.0 T 0.0 T Pathogenic 14_105407031_A->G 14 105407031 105407031 A G snp 2323.77 0/1 99 208 100 108 0.52 exonic rs11623422 AHNAK2 AU synonymous SNV NM_138420 exon7 c.T14757C p.S4919S 0.554912 0.4107 0.583003 0.5460 0.4339 Uncertain 14_105407208_T->C 14 105407208 105407208 T C snp 1816.77 0/1 99 171 93 78 0.46 exonic rs11851053 AHNAK2 AU synonymous SNV NM_138420 exon7 c.A14580G p.V4860V 0.554912 0.4107 0.583044 0.5483 0.4377 Uncertain 14_105407798_T->C 14 105407798 105407798 T C snp 3322.77 0/1 99 250 117 133 0.53 exonic rs4465542 AHNAK2 AU nonsynonymous SNV NM_138420 exon7 c.A13990G p.T4664A 0.555112 0.4117 0.583223 0.5458 0.4338 0.79 T 0.0 P -1.026 T 0.0 T 0.0 T Pathogenic 14_105408030_A->G 14 105408030 105408030 A G snp 525.77 0/1 99 44 27 17 0.39 exonic rs9671643 AHNAK2 AU synonymous SNV NM_138420 exon7 c.T13758C p.D4586D 0.555511 0.4117 0.584929 0.5458 0.4346 Uncertain 14_105408182_T->G 14 105408182 105408182 T G snp 905.77 0/1 99 101 63 38 0.38 exonic rs9672139 AHNAK2 AU nonsynonymous SNV NM_138420 exon7 c.A13606C p.M4536L 0.527556 0.3899 0.555122 0.5146 0.4152 0.8 T 0.0 P -0.998 T 0.01 T 0.022 T Pathogenic 14_105408315_T->C 14 105408315 105408315 T C snp 1833.77 0/1 99 181 102 79 0.44 exonic rs28600075 AHNAK2 AU synonymous SNV NM_138420 exon7 c.A13473G p.P4491P 0.555511 0.4117 0.586160 0.5458 0.4350 Uncertain 14_105408811_A->G 14 105408811 105408811 A G snp 1564.77 0/1 99 105 50 55 0.52 exonic rs2819421 AHNAK2 AU nonsynonymous SNV NM_138420 exon7 c.T12977C p.L4326P 0.555112 0.38 0.582239 0.5436 0.3960 0.53 T 0.0 P -1.036 T 0.0 T 0.0 T Pathogenic 14_105408827_A->C 14 105408827 105408827 A C snp 1306.77 0/1 99 110 59 51 0.46 exonic rs11850949 AHNAK2 AU nonsynonymous SNV NM_138420 exon7 c.T12961G p.L4321V 0.530751 0.378 0.561700 0.5389 0.3960 0.97 T 0.000 P -0.948 T 0.46 P 0.327 P Pathogenic 14_105408955_A->G 14 105408955 105408955 A G snp 1900.77 0/1 99 160 81 79 0.49 exonic rs2819422 AHNAK2 AU nonsynonymous SNV NM_138420 exon7 c.T12833C p.V4278A 0.580671 0.4127 0.604828 0.5518 0.4357 0.79 T 0.0 P -0.949 T 0.0 T 0.006 T Pathogenic 14_105409959_G->T 14 105409959 105409959 G T snp 323.77 0/1 99 20 10 10 0.5 exonic rs10152073 AHNAK2 AU synonymous SNV NM_138420 exon7 c.C11829A p.A3943A 0.554313 0.4117 0.585221 0.5443 0.4291 Uncertain 14_105410183_T->C 14 105410183 105410183 T C snp 1207.77 0/1 99 102 51 51 0.5 exonic rs10438246 AHNAK2 AU nonsynonymous SNV NM_138420 exon7 c.A11605G p.M3869V 0.555911 0.4127 0.588053 0.5462 0.4359 0.62 T 0.0 P -1.126 T 0.0 T 0.0 T Pathogenic 14_105410322_A->G 14 105410322 105410322 A G snp 104.77 0/1 99 85 71 14 0.16 exonic rs767950030 AHNAK2 AU synonymous SNV NM_138420 exon7 c.T11466C p.I3822I 6.63e-05 0.0005 Uncertain 14_105410352_T->C 14 105410352 105410352 T C snp 314.77 0/1 99 127 101 26 0.2 exonic rs554470062 AHNAK2 AU synonymous SNV NM_138420 exon7 c.A11436G p.S3812S 0.000998403 0.001 0.0005 0.0018 Uncertain 14_105410382_T->C 14 105410382 105410382 T C snp 564.77 0/1 99 176 135 41 0.23 exonic rs201817721 AHNAK2 AU synonymous SNV NM_138420 exon7 c.A11406G p.K3802K 0.0235623 0.0268 0.0024 0.0113 Uncertain 14_105410383_T->C 14 105410383 105410383 T C snp 582.77 0/1 99 179 137 42 0.23 exonic rs553656839 AHNAK2 AU nonsynonymous SNV NM_138420 exon7 c.A11405G p.K3802R 0.00179712 0.0022 0.0106 0.1 T 0.998 N -0.971 T 0.921 T 0.471 D Pathogenic 14_105410411_C->T 14 105410411 105410411 C T snp 1747.77 0/1 99 217 143 74 0.34 exonic rs11160825 AHNAK2 AU nonsynonymous SNV NM_138420 exon7 c.G11377A p.D3793N 0.54972 0.4087 0.580844 0.5304 0.3883 0.29 T 0.0 P -1.072 T 0.792 T 0.125 P Pathogenic 14_105410417_G->A 14 105410417 105410417 G A snp 594.77 0/1 99 224 168 56 0.25 exonic rs200284292 AHNAK2 AU synonymous SNV NM_138420 exon7 c.C11371T p.L3791L 0.0353435 0.0417 0.0009 0.0005 ID=COSM3931883;OCCURENCE=1(urinary_tract) Uncertain 14_105410435_G->A 14 105410435 105410435 G A snp 559.77 0/1 99 229 174 55 0.24 exonic rs201237638 AHNAK2 AU synonymous SNV NM_138420 exon7 c.C11353T p.L3785L 0.0361422 0.0437 0.0009 0.0005 ID=COSM3931884;OCCURENCE=1(urinary_tract) Uncertain 14_105410451_T->C 14 105410451 105410451 T C snp 573.77 0/1 99 226 174 52 0.23 exonic rs199536215 AHNAK2 AU synonymous SNV NM_138420 exon7 c.A11337G p.K3779K 0.0002 0.0001 Uncertain 14_105410460_T->C 14 105410460 105410460 T C snp 478.77 0/1 99 213 172 41 0.19 exonic rs760792869 AHNAK2 AU synonymous SNV NM_138420 exon7 c.A11328G p.P3776P 7.458e-05 0.0001 Uncertain 14_105410461_G->C 14 105410461 105410461 G C snp 448.77 0/1 99 211 171 40 0.19 exonic rs771414548 AHNAK2 AU nonsynonymous SNV NM_138420 exon7 c.C11327G p.P3776R 8.285e-06 0.0001 0.05 T 1 N -1.083 T 0.996 D 0.944 D Pathogenic 14_105410463_G->A 14 105410463 105410463 G A snp 436.77 0/1 99 209 167 42 0.2 exonic rs777192686 AHNAK2 AU synonymous SNV NM_138420 exon7 c.C11325T p.A3775A 8.283e-06 0.0001 Uncertain 14_105410481_C->G 14 105410481 105410481 C G snp 445.77 0/1 99 188 151 37 0.2 exonic AHNAK2 AU synonymous SNV NM_138420 exon7 c.G11307C p.V3769V Uncertain 14_105410502_C->G 14 105410502 105410502 C G snp 396.77 0/1 99 165 136 29 0.18 exonic AHNAK2 AU synonymous SNV NM_138420 exon7 c.G11286C p.V3762V Uncertain 14_105410508_A->G 14 105410508 105410508 A G snp 93.77 0/1 99 147 131 16 0.11 exonic AHNAK2 AU synonymous SNV NM_138420 exon7 c.T11280C p.P3760P Uncertain 14_105410512_G->A 14 105410512 105410512 G A snp 60.77 0/1 89 136 122 14 0.1 exonic rs762470858 AHNAK2 AU nonsynonymous SNV NM_138420 exon7 c.C11276T p.A3759V 4.977e-05 0 0.33 T 1 N -0.904 T 0.012 T 0.01 T Pathogenic 14_105410515_G->C 14 105410515 105410515 G C snp 75.77 0/1 99 134 121 13 0.1 exonic AHNAK2 AU nonsynonymous SNV NM_138420 exon7 c.C11273G p.T3758R 0.55 T 1 N -0.885 T 0.017 T 0.008 T Pathogenic 14_105410517_G->C 14 105410517 105410517 G C snp 45.77 0/1 74 133 120 13 0.1 exonic rs779674818 AHNAK2 AU synonymous SNV NM_138420 exon7 c.C11271G p.V3757V 4.974e-05 0 Uncertain 14_105410524_G->A 14 105410524 105410524 G A snp 80.77 0/1 99 133 120 13 0.1 exonic rs201313753 AHNAK2 AU nonsynonymous SNV NM_138420 exon7 c.C11264T p.A3755V 0.000199681 0.0003 0 0.37 T 1 N -0.965 T 0.012 T 0.005 T Pathogenic 14_105410775_A->G 14 105410775 105410775 A G snp 2179.77 0/1 99 190 90 100 0.53 exonic rs2819424 AHNAK2 AU synonymous SNV NM_138420 exon7 c.T11013C p.D3671D 0.585863 0.4137 0.607296 0.5528 0.4358 Uncertain 14_105410827_C->T 14 105410827 105410827 C T snp 2374.77 0/1 99 204 109 95 0.47 exonic rs28380382 AHNAK2 AU nonsynonymous SNV NM_138420 exon7 c.G10961A p.G3654E 0.552516 0.4127 0.585106 0.5448 0.4352 1 T 0.0 P -0.882 T 0.395 T 0.158 T Pathogenic 14_105411700_A->G 14 105411700 105411700 A G snp 1785.77 0/1 99 130 57 73 0.56 exonic rs4264326 AHNAK2 AU nonsynonymous SNV NM_138420 exon7 c.T10088C p.V3363A 0.563498 0.4137 0.596311 0.5493 0.4384 0.79 T 0.0 P -1.036 T 0.0 T 0.0 T Pathogenic 14_105411781_G->A 14 105411781 105411781 G A snp 1572.77 0/1 99 97 45 52 0.54 exonic rs10438247 AHNAK2 AU nonsynonymous SNV NM_138420 exon7 c.C10007T p.P3336L 0.538538 0.4137 0.579534 0.5416 0.4388 0.07 T 0.0 P -1.016 T 0.999 D 0.909 D Pathogenic 14_105412541_C->T 14 105412541 105412541 C T snp 514.77 0/1 99 101 74 27 0.27 exonic rs12433837 AHNAK2 AU nonsynonymous SNV NM_138420 exon7 c.G9247A p.V3083I 0.51857 0.3978 0.263543 0.4508 0.3727 0.19 T 0.0 P -0.978 T 0.259 T 0.116 T Pathogenic 14_105412542_A->G 14 105412542 105412542 A G snp 532.77 0/1 99 99 72 27 0.27 exonic rs12433815 AHNAK2 AU synonymous SNV NM_138420 exon7 c.T9246C p.D3082D 0.517572 0.3978 0.260616 0.4487 0.3734 Uncertain 14_105412554_T->G 14 105412554 105412554 T G snp 345.77 0/1 99 81 59 22 0.27 exonic rs12436986 AHNAK2 AU synonymous SNV NM_138420 exon7 c.A9234C p.G3078G 0.514976 0.3938 0.290441 0.4803 0.3811 Uncertain 14_105412561_C->T 14 105412561 105412561 C T snp 331.77 0/1 99 67 47 20 0.3 exonic rs3000771 AHNAK2 AU nonsynonymous SNV NM_138420 exon7 c.G9227A p.R3076H 0.4952 0.3899 0.38 T 0.0 P -1.140 T 0.793 T 0.033 P Pathogenic 14_105413040_T->C 14 105413040 105413040 T C snp 227.77 0/1 99 32 20 12 0.38 exonic rs755431279 AHNAK2 AU nonsynonymous SNV NM_138420 exon7 c.A8748G p.I2916M 0.0003 0.0009 0.13 T 1 N -0.911 T 0.003 T 0.006 T Pathogenic 14_105413042_T->C 14 105413042 105413042 T C snp 167.77 0/1 99 33 21 12 0.36 exonic rs752415528 AHNAK2 AU nonsynonymous SNV NM_138420 exon7 c.A8746G p.I2916V 0.0002 0.0009 1 T 1 N -0.933 T 0.0 T 0.0 T Pathogenic 14_105413057_G->T 14 105413057 105413057 G T snp 224.77 0/1 99 46 32 14 0.3 exonic rs554150808 AHNAK2 AU nonsynonymous SNV NM_138420 exon7 c.C8731A p.L2911I 0.00159744 0.001 0.0003 0.0013 0.48 T 1 N -0.940 T 0.172 T 0.104 T Pathogenic 14_105413058_A->G 14 105413058 105413058 A G snp 280.77 0/1 99 46 32 14 0.3 exonic rs577072628 AHNAK2 AU synonymous SNV NM_138420 exon7 c.T8730C p.D2910D 0.00159744 0.001 0.0003 0.0015 Uncertain 14_105413142_T->C 14 105413142 105413142 T C snp 252.77 0/1 99 116 98 18 0.16 exonic rs200865013 AHNAK2 AU synonymous SNV NM_138420 exon7 c.A8646G p.P2882P 0.0453 0.1506 Uncertain 14_105413143_G->A 14 105413143 105413143 G A snp 252.77 0/1 99 116 98 18 0.16 exonic rs201434975 AHNAK2 AU nonsynonymous SNV NM_138420 exon7 c.C8645T p.P2882L 0.0447 0.1441 0.01 T 1 N -1.034 T 0.013 T 0.02 T Pathogenic 14_105413204_G->T 14 105413204 105413204 G T snp 1544.77 0/1 99 137 72 65 0.47 exonic rs2582514 AHNAK2 AU nonsynonymous SNV NM_138420 exon7 c.C8584A p.R2862S 0.567093 0.3899 0.594508 0.5477 0.4140 0.74 T 0.0 P -1.102 T 0.0 T 0.0 T Pathogenic 14_105413223_A->G 14 105413223 105413223 A G snp 3950.77 1/1 99 136 0 136 1.0 exonic rs55797226 AHNAK2 AU synonymous SNV NM_138420 exon7 c.T8565C p.D2855D 0.527157 0.4296 0.554266 0.5379 0.4513 Uncertain 14_105414238_C->A 14 105414238 105414238 C A snp 945.77 0/1 99 83 46 37 0.45 exonic rs60754080 AHNAK2 AU nonsynonymous SNV NM_138420 exon7 c.G7550T p.G2517V 0.480232 0.3194 0.550739 0.5029 0.3557 0.33 T 0.0 P -1.055 T 0.0 T 0.0 T Pathogenic 14_105414252_C->T 14 105414252 105414252 C T snp 1295.77 0/1 99 113 63 50 0.44 exonic rs60106058 AHNAK2 AU synonymous SNV NM_138420 exon7 c.G7536A p.K2512K 0.454872 0.3125 0.528434 0.4944 0.3428 Uncertain 14_105414280_T->G 14 105414280 105414280 T G snp 5163.77 1/1 99 185 2 183 0.99 exonic rs2819429 AHNAK2 AU nonsynonymous SNV NM_138420 exon7 c.A7508C p.E2503A 0.843251 0.628 0.896379 0.8428 0.6377 0.32 T 0.0 P -0.977 T 0.4 T 0.168 T Pathogenic 14_105414629_G->A 14 105414629 105414629 G A snp 803.77 0/1 99 48 22 26 0.54 exonic rs72702027 AHNAK2 AU nonsynonymous SNV NM_138420 exon7 c.C7159T p.P2387S 0.531949 0.4048 0.563209 0.5415 0.4329 0.12 T 0.0 P -1.006 T 0.833 T 0.708 P Pathogenic 14_105414790_A->G 14 105414790 105414790 A G snp 2385.77 0/1 99 185 82 103 0.56 exonic rs2582513 AHNAK2 AU nonsynonymous SNV NM_138420 exon7 c.T6998C p.L2333P 0.563099 0.4276 0.584706 0.5512 0.4510 0.46 T 0.0 P -0.971 T 0.0 T 0.0 T Pathogenic 14_105414810_C->G 14 105414810 105414810 C G snp 2620.77 0/1 99 197 90 107 0.54 exonic rs10145032 AHNAK2 AU synonymous SNV NM_138420 exon7 c.G6978C p.L2326L 0.532348 0.4276 0.560991 0.5435 0.4497 Uncertain 14_105415352_G->C 14 105415352 105415352 G C snp 3333.77 0/1 99 250 113 137 0.55 exonic rs12890949 AHNAK2 AU nonsynonymous SNV NM_138420 exon7 c.C6436G p.L2146V 0.00519169 0.003 0.941684 0.8398 0.4878 0.64 T 0.0 P -1.051 T 0.001 T 0.002 T Pathogenic 14_105415422_G->A 14 105415422 105415422 G A snp 2844.77 0/1 99 250 141 109 0.44 exonic rs79003030 AHNAK2 AU synonymous SNV NM_138420 exon7 c.C6366T p.D2122D 0.274361 0.2976 0.166228 0.1514 0.2964 Uncertain 14_105415431_C->G 14 105415431 105415431 C G snp 51.77 0/1 80 248 230 18 0.07 exonic rs199873247 AHNAK2 AU nonsynonymous SNV NM_138420 exon7 c.G6357C p.M2119I 0.0368 0.0610 0.55 T 1 N -0.908 T 0.003 T 0.01 T Pathogenic 14_105415433_T->C 14 105415433 105415433 T C snp 76.77 0/1 99 250 229 21 0.08 exonic rs199970974 AHNAK2 AU nonsynonymous SNV NM_138420 exon7 c.A6355G p.M2119V 0.0393 0.0640 0.8 T 1 N -0.965 T 0.001 T 0.002 T Pathogenic 14_105415469_T->C 14 105415469 105415469 T C snp 3023.77 0/1 99 228 103 125 0.55 exonic rs11846918 AHNAK2 AU nonsynonymous SNV NM_138420 exon7 c.A6319G p.M2107V 0.448083 0.374 0.315362 0.2772 0.4116 1 T 0.0 P -1.030 T 0.001 T 0.0 T Pathogenic 14_105415497_T->C 14 105415497 105415497 T C snp 301.77 0/1 99 184 156 28 0.15 exonic rs201263008 AHNAK2 AU synonymous SNV NM_138420 exon7 c.A6291G p.K2097K 0.061352 0.1308 0.2667 Uncertain 14_105415577_G->A 14 105415577 105415577 G A snp 156.77 0/1 99 82 71 11 0.13 exonic rs375265904 AHNAK2 AU synonymous SNV NM_138420 exon7 c.C6211T p.L2071L 0.0289 0.1053 Uncertain 14_105415587_G->A 14 105415587 105415587 G A snp 52.77 0/1 81 74 67 7 0.09 exonic rs768145521 AHNAK2 AU synonymous SNV NM_138420 exon7 c.C6201T p.L2067L 0.0273 0.0985 Uncertain 14_105415608_G->C 14 105415608 105415608 G C snp 962.77 0/1 99 64 33 31 0.48 exonic rs11850848 AHNAK2 AU nonsynonymous SNV NM_138420 exon7 c.C6180G p.H2060Q 0.363019 0.3333 0.276401 0.2525 0.3574 0.61 T 0.0 P -1.073 T 0.022 T 0.029 T Pathogenic 14_105415659_G->A 14 105415659 105415659 G A snp 1188.77 0/1 99 94 46 48 0.51 exonic rs61271499 AHNAK2 AU synonymous SNV NM_138420 exon7 c.C6129T p.A2043A 0.168131 0.3016 0.046687 0.1286 0.3508 Uncertain 14_105416010_T->C 14 105416010 105416010 T C snp 1204.77 0/1 99 89 44 45 0.51 exonic rs2582511 AHNAK2 AU synonymous SNV NM_138420 exon7 c.A5778G p.T1926T 0.583466 0.3998 0.642508 0.5890 0.4218 Uncertain 14_105416087_C->T 14 105416087 105416087 C T snp 801.77 0/1 99 86 52 34 0.4 exonic rs59117977 AHNAK2 AU nonsynonymous SNV NM_138420 exon7 c.G5701A p.G1901S 0.132188 0.2877 0.036035 0.0637 0.3208 0.63 T 0.0 P -0.987 T 0.168 T 0.013 T Pathogenic 14_105416220_T->A 14 105416220 105416220 T A snp 4282.77 1/1 99 158 2 156 0.99 exonic rs2819435 AHNAK2 AU nonsynonymous SNV NM_138420 exon7 c.A5568T p.E1856D 0.721845 0.6121 0.864117 0.7621 0.6048 1 T 0.0 P -0.837 T 0.0 T 0.002 T Pathogenic 14_105416230_A->G 14 105416230 105416230 A G snp 1741.77 0/1 99 154 78 76 0.49 exonic rs11851005 AHNAK2 AU nonsynonymous SNV NM_138420 exon7 c.T5558C p.V1853A 0.11222 0.245 0.036933 0.0404 0.2249 0.17 T 0.0 P -0.954 T 0.018 T 0.019 T Pathogenic 14_105416284_A->G 14 105416284 105416284 A G snp 1182.77 0/1 99 84 40 44 0.52 exonic rs144488514 AHNAK2 AU nonsynonymous SNV NM_138420 exon7 c.T5504C p.V1835A 0.0455272 0.0962 0.002659 0.0203 0.0775 0.17 T 0.0 P -0.941 T 0.607 T 0.187 P Pathogenic 14_105417765_A->C 14 105417765 105417765 A C snp 1096.77 0/1 99 104 65 39 0.38 exonic rs2894636 AHNAK2 AU synonymous SNV NM_138420 exon7 c.T4023G p.S1341S 0.020188 0.1770 0.2952 Uncertain 14_105417766_G->A 14 105417766 105417766 G A snp 1052.77 0/1 99 106 67 39 0.37 exonic rs2396457 AHNAK2 AU nonsynonymous SNV NM_138420 exon7 c.C4022T p.S1341F 0.314497 0.2937 0.012052 0.1766 0.2951 0.1 T 0.0 P -0.987 T 1.0 D 0.988 D Pathogenic 14_105417768_C->A 14 105417768 105417768 C A snp 1070.77 0/1 99 108 69 39 0.36 exonic rs2396458 AHNAK2 AU synonymous SNV NM_138420 exon7 c.G4020T p.V1340V 0.0159744 0.111667 0.1764 0.2948 Uncertain 14_105417774_G->A 14 105417774 105417774 G A snp 1335.77 0/1 99 126 78 48 0.38 exonic rs2013228 AHNAK2 AU synonymous SNV NM_138420 exon7 c.C4014T p.F1338F 0.390575 0.2986 0.348612 0.3312 0.2958 Uncertain 14_105417837_A->G 14 105417837 105417837 A G snp 2206.77 0/1 99 234 139 95 0.41 exonic rs76231332 AHNAK2 AU synonymous SNV NM_138420 exon7 c.T3951C p.A1317A 0.263978 0.3006 0.153795 0.1570 0.3046 Uncertain 14_105417894_C->G 14 105417894 105417894 C G snp 6174.77 1/1 99 226 1 225 1.0 exonic rs2819440 AHNAK2 AU nonsynonymous SNV NM_138420 exon7 c.G3894C p.M1298I 0.783546 0.5982 0.818862 0.7128 0.5852 0.33 T 0.0 P -1.008 T 0.0 T 0.0 T Pathogenic 14_105418064_A->G 14 105418064 105418064 A G snp 74.77 0/1 99 89 78 11 0.12 exonic rs377198190 AHNAK2 AU nonsynonymous SNV NM_138420 exon7 c.T3724C p.F1242L 0.0940495 0.0268 0.0003 0.0005 0.97 T 1 N -0.918 T 0.0 T 0.0 T Pathogenic 14_105418077_A->G 14 105418077 105418077 A G snp 146.77 0/1 99 90 77 13 0.14 exonic rs561504715 AHNAK2 AU synonymous SNV NM_138420 exon7 c.T3711C p.P1237P 0.0952476 0.0238 0.0002 0.0006 Uncertain 14_105418080_C->A 14 105418080 105418080 C A snp 150.77 0/1 99 90 76 14 0.16 exonic rs546876487 AHNAK2 AU synonymous SNV NM_138420 exon7 c.G3708T p.V1236V 0.0107827 0.005 7.247e-05 0 ID=COSM1607414;OCCURENCE=1(liver) Uncertain 14_105418098_C->T 14 105418098 105418098 C T snp 297.77 0/1 99 96 72 24 0.25 exonic rs552414467 AHNAK2 AU synonymous SNV NM_138420 exon7 c.G3690A p.K1230K 0.165535 0.0516 0.0005 0.0001 Uncertain 14_105418119_G->C 14 105418119 105418119 G C snp 352.77 0/1 99 107 80 27 0.25 exonic rs201187390 AHNAK2 AU nonsynonymous SNV NM_138420 exon7 c.C3669G p.H1223Q 0.192292 0.0585 0.0018 0.0005 0.61 T 1 N -0.957 T 0.0 T 0.0 T Pathogenic 14_105418127_C->T 14 105418127 105418127 C T snp 349.77 0/1 99 110 83 27 0.25 exonic rs200332960 AHNAK2 AU nonsynonymous SNV NM_138420 exon7 c.G3661A p.E1221K 0.0010 0 0.96 T 1 N -0.889 T 0.234 T 0.099 T Pathogenic 14_105418134_A->G 14 105418134 105418134 A G snp 370.77 0/1 99 108 81 27 0.25 exonic rs529616676 AHNAK2 AU synonymous SNV NM_138420 exon7 c.T3654C p.A1218A 0.00858626 0.0169 0.0010 0 Uncertain 14_105418136_C->T 14 105418136 105418136 C T snp 363.77 0/1 99 107 80 27 0.25 exonic rs201387577 AHNAK2 AU nonsynonymous SNV NM_138420 exon7 c.G3652A p.A1218T 0.00858626 0.0169 0.0012 0 0.25 T 1 N -0.952 T 0.319 T 0.027 T Pathogenic 14_105418166_T->C 14 105418166 105418166 T C snp 329.77 0/1 99 97 73 24 0.25 exonic rs78116894 AHNAK2 AU nonsynonymous SNV NM_138420 exon7 c.A3622G p.T1208A 0.291134 0.1567 0.1292 0.0320 0.99 T 0.0 P -0.948 T 0.22 T 0.062 T Pathogenic 14_105418170_G->C 14 105418170 105418170 G C snp 359.77 0/1 99 94 70 24 0.26 exonic rs200879546 AHNAK2 AU synonymous SNV NM_138420 exon7 c.C3618G p.L1206L 0.0607029 0.1002 0.0120 0.0225 Uncertain 14_105418234_G->A 14 105418234 105418234 G A snp 76.77 0/1 99 40 32 8 0.2 exonic rs76024300 AHNAK2 AU nonsynonymous SNV NM_138420 exon7 c.C3554T p.S1185L 0.0806709 0.1161 0.0411 0.1120 0.23 T 1 N -0.860 T 0.953 T 0.436 D Pathogenic 14_105418235_A->T 14 105418235 105418235 A T snp 51.77 0/1 80 39 32 7 0.18 exonic rs200159018 AHNAK2 AU nonsynonymous SNV NM_138420 exon7 c.T3553A p.S1185T 0.0794728 0.1141 0.0405 0.1094 0.58 T 1 N -0.960 T 0.891 T 0.543 P Pathogenic 14_105418264_G->A 14 105418264 105418264 G A snp 105.77 0/1 99 12 8 4 0.33 exonic rs55650155 AHNAK2 AU nonsynonymous SNV NM_138420 exon7 c.C3524T p.A1175V 0.382987 0.3175 0.428772 0.4796 0.3025 1 T 0.0 P -1.024 T 0.001 T 0.0 T Pathogenic 14_105418391_C->T 14 105418391 105418391 C T snp 78.77 0/1 63 5 2 3 0.6 exonic rs11625007 AHNAK2 AU nonsynonymous SNV NM_138420 exon7 c.G3397A p.V1133I 0.485874 0.4752 0.3247 0.7 T 0.0 P -0.983 T 0.017 T 0.006 T Pathogenic 14_105418481_C->T 14 105418481 105418481 C T snp 239.77 0/1 99 53 41 12 0.23 exonic rs200172350 AHNAK2 AU nonsynonymous SNV NM_138420 exon7 c.G3307A p.V1103I 0.0077 0.0208 0.68 T 1 N -0.914 T 0.0 T 0.001 T Pathogenic 14_105418502_G->T 14 105418502 105418502 G T snp 388.77 0/1 99 68 51 17 0.25 exonic rs201268922 AHNAK2 AU nonsynonymous SNV NM_138420 exon7 c.C3286A p.L1096I 0.128395 0.2202 0.0970 0.2876 0.66 T 0.0 P -1.015 T 0.106 T 0.062 T Pathogenic 14_105418504_G->T 14 105418504 105418504 G T snp 941.77 0/1 99 70 31 39 0.56 exonic rs151013711 AHNAK2 AU nonsynonymous SNV NM_138420 exon7 c.C3284A p.A1095D 0.203874 0.2887 0.112974 0.0990 0.2927 1 T 0.0 P -0.982 T 0.0 T 0.0 T Pathogenic 14_105418521_G->C 14 105418521 105418521 G C snp 435.77 0/1 99 78 54 24 0.31 exonic rs142241633 AHNAK2 AU nonsynonymous SNV NM_138420 exon7 c.C3267G p.F1089L 0.005026 0.0054 0.0555 1 T 1 N -0.909 T 0.0 T 0.001 T Pathogenic 14_105418535_C->G 14 105418535 105418535 C G snp 313.77 0/1 99 86 70 16 0.19 exonic rs146664186 AHNAK2 AU nonsynonymous SNV NM_138420 exon7 c.G3253C p.E1085Q 0.0453 0.1675 0.47 T 1 N -0.925 T 0.0 T 0.001 T Pathogenic 14_105418547_A->G 14 105418547 105418547 A G snp 199.77 0/1 99 86 73 13 0.15 exonic rs762314642 AHNAK2 AU synonymous SNV NM_138420 exon7 c.T3241C p.L1081L 0.0398 0.1475 Uncertain 14_105418557_A->G 14 105418557 105418557 A G snp 130.77 0/1 99 92 81 11 0.12 exonic rs767349459 AHNAK2 AU synonymous SNV NM_138420 exon7 c.T3231C p.L1077L 0.0394 0.1471 Uncertain 14_105418638_A->G 14 105418638 105418638 A G snp 1848.77 0/1 99 155 79 76 0.49 exonic rs78353106 AHNAK2 AU synonymous SNV NM_138420 exon7 c.T3150C p.P1050P 0.203874 0.2887 0.115341 0.1033 0.3003 Uncertain 14_105419234_T->C 14 105419234 105419234 T C snp 117.77 0/1 66 7 3 4 0.57 exonic rs74090129 AHNAK2 AU nonsynonymous SNV NM_138420 exon7 c.A2554G p.M852V 0.206669 0.2966 0.115265 0.1038 0.3041 0.36 T 0.0 P -0.911 T 0.012 T 0.016 T Pathogenic 14_105419557_G->A 14 105419557 105419557 G A snp 921.77 0/1 99 86 46 40 0.47 exonic rs78204285 AHNAK2 AU nonsynonymous SNV NM_138420 exon7 c.C2231T p.P744L 0.202676 0.2917 0.003749 0.1015 0.2985 0.09 T 1 N -1.059 T 0.975 D 0.38 D Pathogenic 14_105419559_A->G 14 105419559 105419559 A G snp 941.77 0/1 99 87 47 40 0.46 exonic rs74525871 AHNAK2 AU synonymous SNV NM_138420 exon7 c.T2229C p.L743L 0.202875 0.2917 0.004576 0.1016 0.2985 Uncertain 14_105419568_A->G 14 105419568 105419568 A G snp 868.77 0/1 99 88 50 38 0.43 exonic rs78110724 AHNAK2 AU synonymous SNV NM_138420 exon7 c.T2220C p.D740D 0.202676 0.2907 0.108501 0.1015 0.2965 Uncertain 14_105420215_T->C 14 105420215 105420215 T C snp 2248.77 0/1 99 236 144 92 0.39 exonic rs2278607 AHNAK2 AU nonsynonymous SNV NM_138420 exon7 c.A1573G p.T525A 0.201877 0.2937 0.110688 0.1018 0.3036 0.73 T 0.0 P -0.893 T 0.03 T 0.013 T Pathogenic 14_105424173_A->C 14 105424173 105424173 A C snp 56.74 1/1 6 2 0 2 1.0 intronic rs9324079 AHNAK2 AU NM_138420 exon6 c.19610+164A>C 0.243211 0.4802 Uncertain 14_105452035_A->G 14 105452035 105452035 A G snp 519.77 1/1 39 16 0 16 1.0 upstream rs10150682 C14orf79 AU 0.903355 0.7976 Uncertain 14_105455877_C->G 14 105455877 105455877 C G snp 804.77 0/1 99 54 26 28 0.52 intronic rs2241866 C14orf79 AU NM_174891 exon2 c.2657+452C>G 0.1877 0.2282 Uncertain 14_105457771_A->G 14 105457771 105457771 A G snp 800.77 0/1 99 93 53 40 0.43 intronic rs2247140 C14orf79 AU NM_174891 exon3 c.5059-56A>G 0.759185 0.5645 Uncertain 14_105457780_T->G 14 105457780 105457780 T G snp 975.77 0/1 99 100 57 43 0.43 intronic rs2289454 C14orf79 AU NM_174891 exon3 c.5059-47T>G 0.205871 0.2232 0.154906 0.1545 0.2311 Uncertain 14_105457987_T->C 14 105457987 105457987 T C snp 635.77 0/1 99 46 20 26 0.57 intronic rs372625346 C14orf79 AU NM_174891 exon3 c.5189+30T>C 0.000199681 0.001 0.0001 0.0015 Uncertain 14_105459140_A->C 14 105459140 105459140 A C snp 225.77 0/1 99 18 8 10 0.56 intronic rs2241865 C14orf79 AU NM_174891 exon4 c.6516-144A>C 0.205671 0.2232 Uncertain 14_105461067_C->T 14 105461067 105461067 C T snp 1260.77 0/1 99 113 58 55 0.49 exonic rs894039 C14orf79 AU synonymous SNV NM_174891 exon5 c.C949T p.L317L 0.744808 0.5655 0.812779 0.7831 0.5415 Uncertain 14_105477507_G->A 14 105477507 105477507 G A snp 483.77 0/1 99 38 21 17 0.45 UTR3 rs7144401 CDCA4 AU 0.279952 0.2282 0.219690 0.1756 0.2404 Uncertain 14_105477613_T->C 14 105477613 105477613 T C snp 1414.77 0/1 99 100 42 58 0.58 exonic rs7145565 CDCA4 AU synonymous SNV NM_017955 exon2 c.A654G p.P218P 0.284345 0.2282 0.233692 0.1651 0.2343 Uncertain 14_105518336_G->T 14 105518336 105518336 G T snp 2250.77 0/1 99 177 79 98 0.55 exonic rs3803322 GPR132 AU synonymous SNV NM_001278695 exon3 c.C111A p.V37V 0.105431 0.2421 0.056512 0.0886 0.2434 Uncertain 14_105518456_A->C 14 105518456 105518456 A C snp 1257.77 0/1 99 88 41 47 0.53 intronic rs3803321 GPR132 AU NM_013345 exon1 c.1109+17A>C 0.127396 0.2649 0.039302 0.0558 0.2570 Uncertain 14_105523663_G->A 14 105523663 105523663 G A snp 850.77 0/1 99 55 26 29 0.53 intronic rs7147439 GPR132 AU NM_013345 exon3 c.6287+46G>A 0.576677 0.5347 Uncertain 14_105622056_A->G 14 105622056 105622056 A G snp 6883.77 1/1 99 243 1 242 1.0 intronic rs2816679 JAG2 AU NM_145159 exon22 c.13043-18A>G 0.974042 1 0.954224 0.9565 0.9990 Uncertain 14_105695329_C->A 14 105695329 105695329 C A snp 2544.77 1/1 99 76 0 76 1.0 intronic rs1882847 BRF1 AR NM_001242786 exon12 c.18363+79C>A 0.215455 0.622 Uncertain 14_105857493_G->A 14 105857493 105857493 G A snp 2130.77 0/1 99 157 69 88 0.56 intronic PACS2 AU NM_001100913 exon21 c.76288-50G>A 2.507e-05 0.0003 Uncertain 14_105905126_C->T 14 105905126 105905126 C T snp 1314.77 1/1 93 49 0 49 1.0 intronic MTA1 AU NM_001203258 exon2 c.18704+50C>T 0.924121 0.9851 0.927215 0.9803 0.9927 Uncertain 14_105911562_T->C 14 105911562 105911562 T C snp 56.74 1/1 6 3 0 3 1.0 intronic MTA1 AU NM_001203258 exon3 c.25382-192T>C 0.990415 1 Uncertain 14_105911639_G->A 14 105911639 105911639 G A snp 1903.77 1/1 99 56 0 56 1.0 intronic MTA1 AU NM_001203258 exon3 c.25382-115G>A 0.972644 1 Uncertain 14_105916420_C->T 14 105916420 105916420 C T snp 6907.77 1/1 99 250 0 250 1.0 exonic MTA1 AU synonymous SNV NM_001203258 exon5 c.C267T p.N89N 0.977236 1 0.973166 0.9924 1 Uncertain 14_105924538_G->A 14 105924538 105924538 G A snp 1213.77 1/1 90 35 0 35 1.0 intronic MTA1 AU NM_001203258 exon8 c.38234-68G>A 0.854832 0.9901 Uncertain 14_105924786_G->A 14 105924786 105924786 G A snp 3291.77 1/1 99 121 0 121 1.0 intronic MTA1 AU NM_001203258 exon8 c.38337+77G>A 0.845048 0.9901 Uncertain 14_105929443_C->T 14 105929443 105929443 C T snp 2423.77 1/1 99 72 0 72 1.0 intronic MTA1 AU NM_001203258 exon11 c.43148-77C>T 0.825879 0.9901 Uncertain 14_105930406_G->A 14 105930406 105930406 G A snp 7310.77 1/1 99 249 0 249 1.0 exonic MTA1 AU nonsynonymous SNV NM_001203258 exon13 c.G1114A p.V372I 0.284944 0.622 0.171306 0.2756 0.6562 0.2 T 1.000 P -0.976 T 0.317 T 0.067 T Pathogenic 14_105930923_G->A 14 105930923 105930923 G A snp 4205.77 1/1 99 138 0 138 1.0 intronic MTA1 AU NM_001203258 exon14 c.44532+19G>A 0.700879 0.8879 0.745615 0.8990 0.9753 Uncertain 14_105931585_A->G 14 105931585 105931585 A G snp 724.77 1/1 54 24 0 24 1.0 intronic MTA1 AU NM_001203258 exon16 c.45148+65A>G 0.934305 1 Uncertain 14_105932966_C->T 14 105932966 105932966 C T snp 991.77 0/1 99 67 27 40 0.6 intronic MTA1 AU NM_001203258 exon17 c.46543+51C>T 9.541e-05 0.0006 Uncertain 14_105935721_A->G 14 105935721 105935721 A G snp 2163.77 1/1 99 75 0 75 1.0 intronic MTA1 AU NM_001203258 exon19 c.49431-82A>G 0.976637 1 0.971065 Uncertain 14_105935824_G->A 14 105935824 105935824 G A snp 4597.77 1/1 99 170 0 170 1.0 exonic MTA1 AU nonsynonymous SNV NM_004689 exon19 c.G1834A p.A612T 0.854233 1 0.850746 0.9589 0.9999 1 T 0.003 P -1.028 T 0.0 T 0.0 T Pathogenic 14_105936064_A->G 14 105936064 105936064 A G snp 1061.77 1/1 78 29 0 29 1.0 intronic MTA1 AU NM_001203258 exon20 c.49805-113A>G 0.977037 1 Uncertain 14_105936100_-->CCTTGGCTGGTGGCC 14 105936100 105936100 - CCTTGGCTGGTGGCC indel 7576.73 1/1 99 43 0 43 1.0 intronic MTA1 AU NM_001203258 exon20 c.49805-77insCCTTGGCTGGTGGCC 0.857029 1 Uncertain 14_105945891_C->T 14 105945891 105945891 C T snp 3600.77 1/1 99 136 0 136 1.0 intronic CRIP2 AU NM_001312 exon8 c.4723-31C>T 0.859026 0.9871 0.848583 0.9269 0.9943 Uncertain 14_105953474_G->T 14 105953474 105953474 G T snp 512.77 1/1 39 13 0 13 1.0 intronic CRIP1 AU 0.840256 0.9901 Uncertain 14_105953595_T->C 14 105953595 105953595 T C snp 2526.77 1/1 99 93 0 93 1.0 UTR5 CRIP1 AU 0.84984 1 0.858623 0.9527 0.9977 Uncertain 14_105958845_C->A 14 105958845 105958845 C A snp 450.77 0/1 99 35 16 19 0.54 intronic rs79585924 C14orf80 AU NM_001198983 exon5 c.1476-70C>A 0.0319489 0.1181 Uncertain 14_105962234_T->C 14 105962234 105962234 T C snp 3662.77 1/1 99 133 0 133 1.0 intronic C14orf80 AU NM_001198983 exon6 c.6254-1459T>C 0.913938 1 0.9731 1 Uncertain 14_105962369_A->G 14 105962369 105962369 A G snp 2587.77 1/1 99 96 1 95 0.99 intronic C14orf80 AU NM_001198983 exon6 c.6254-1324A>G 0.921526 1 0.9746 1 Uncertain 14_105963944_C->T 14 105963944 105963944 C T snp 381.77 0/1 99 32 18 14 0.44 intronic C14orf80 AU NM_001198983 exon6 c.6341+164C>T 0.529353 0.378 Uncertain 14_105963945_T->C 14 105963945 105963945 T C snp 368.77 0/1 99 32 18 14 0.44 intronic C14orf80 AU NM_001198983 exon6 c.6341+165T>C 0.529553 0.378 Uncertain 14_106053289_A->G 14 106053289 106053289 A G snp 35.74 1/1 6 2 0 2 1.0 intergenic TMEM121 AU 0.43111 0.1458 0.0186 0.0011 Uncertain 14_106053293_G->A 14 106053293 106053293 G A snp 35.74 1/1 6 2 0 2 1.0 intergenic TMEM121 AU 0.427316 0.1458 0.0148 0.0015 Uncertain 14_106053559_A->G 14 106053559 106053559 A G snp 598.77 1/1 45 28 0 28 1.0 intergenic TMEM121 AU 0.272364 0.5873 0.090292 0.0907 0.6009 Uncertain 14_106053740_T->C 14 106053740 106053740 T C snp 40.77 0/1 69 28 23 5 0.18 intergenic TMEM121 AU 0.0628994 0.0427 Uncertain 14_106054428_C->G 14 106054428 106054428 C G snp 1321.77 1/1 96 49 0 49 1.0 intergenic TMEM121 AU 0.640775 0.4544 0.8080 0.3692 Uncertain 14_106054456_A->G 14 106054456 106054456 A G snp 1937.77 1/1 99 74 0 74 1.0 intergenic TMEM121 AU 0.642772 0.4563 0.8611 0.4491 Uncertain 14_106054680_T->G 14 106054680 106054680 T G snp 162.77 0/1 99 250 223 27 0.11 intergenic TMEM121 AU Uncertain 14_106054682_G->C 14 106054682 106054682 G C snp 118.77 0/1 99 250 224 26 0.1 intergenic TMEM121 AU 1.67e-05 0 Uncertain 14_106054683_G->T 14 106054683 106054683 G T snp 205.77 0/1 99 250 224 26 0.1 intergenic TMEM121 AU Uncertain 14_106054692_T->C 14 106054692 106054692 T C snp 652.77 0/1 99 250 208 42 0.17 intergenic TMEM121 AU 9.195e-05 0 Uncertain 14_106054693_C->A 14 106054693 106054693 C A snp 654.77 0/1 99 249 207 42 0.17 intergenic TMEM121 AU 9.199e-05 0 Uncertain 14_106054748_G->A 14 106054748 106054748 G A snp 2668.77 0/1 99 247 148 99 0.4 intergenic TMEM121 AU 0.2523 0.2866 Uncertain 14_106054791_G->T 14 106054791 106054791 G T snp 2760.77 0/1 99 228 125 103 0.45 intergenic TMEM121 AU Uncertain 14_106054796_A->G 14 106054796 106054796 A G snp 2848.77 0/1 99 224 120 104 0.46 intergenic TMEM121 AU Uncertain 14_106054812_C->T 14 106054812 106054812 C T snp 2722.77 0/1 99 209 108 101 0.48 intergenic TMEM121 AU Uncertain 14_106054854_A->T 14 106054854 106054854 A T snp 1123.77 0/1 99 90 51 39 0.43 intergenic TMEM121 AU Uncertain 14_106054858_T->C 14 106054858 106054858 T C snp 936.77 0/1 99 79 46 33 0.42 intergenic TMEM121 AU Uncertain 14_106054876_T->C 14 106054876 106054876 T C snp 265.77 0/1 99 39 28 11 0.28 intergenic TMEM121 AU Uncertain 14_106054877_G->A 14 106054877 106054877 G A snp 268.77 0/1 99 37 26 11 0.3 intergenic TMEM121 AU Uncertain 14_106054885_G->A 14 106054885 106054885 G A snp 162.77 0/1 99 29 21 8 0.28 intergenic TMEM121 AU Uncertain 14_106054895_A->T 14 106054895 106054895 A T snp 96.77 0/1 99 21 15 6 0.29 intergenic TMEM121 AU 0.0960463 0.4276 Uncertain 14_106066427_C->T 14 106066427 106066427 C T snp 248.77 0/1 99 141 116 25 0.18 intergenic TMEM121 AU 0.0091 0.0241 Uncertain 14_106066454_T->C 14 106066454 106066454 T C snp 4007.77 1/1 99 159 0 159 1.0 intergenic TMEM121 AU 0.932708 0.999 0.922439 0.9793 0.9999 Uncertain 14_106067618_G->A 14 106067618 106067618 G A snp 3336.77 1/1 99 113 1 112 0.99 intergenic TMEM121 AU 0.636981 0.3909 Uncertain 14_106110330_T->C 14 106110330 106110330 T C snp 2820.77 1/1 99 104 0 104 1.0 intergenic MIR8071-1 AU 0.915535 1 0.904307 0.9732 1 Uncertain 14_106173358_G->C 14 106173358 106173358 G C snp 52.74 1/1 6 2 0 2 1.0 intergenic ELK2AP AU Uncertain 14_106173790_A->G 14 106173790 106173790 A G snp 1537.77 0/1 99 209 136 73 0.35 intergenic ELK2AP AU 0.4420 0.5741 Uncertain 14_106173808_G->A 14 106173808 106173808 G A snp 138.77 0/1 99 191 172 19 0.1 intergenic ELK2AP AU 0.4731 0.1549 Uncertain 14_106173971_T->C 14 106173971 106173971 T C snp 78.77 0/1 99 35 28 7 0.2 intergenic ELK2AP AU Uncertain 14_106174063_A->G 14 106174063 106174063 A G snp 1001.77 0/1 99 82 39 43 0.52 intergenic ELK2AP AU Uncertain 14_106174081_C->T 14 106174081 106174081 C T snp 1319.77 0/1 99 115 56 59 0.51 intergenic ELK2AP AU 0.091853 0.0863 0.043877 0.0356 0.0919 Uncertain 14_106174518_A->G 14 106174518 106174518 A G snp 1976.77 1/1 99 66 0 66 1.0 intergenic ELK2AP AU 0.621006 0.4494 0.522293 0.5087 0.6378 Uncertain 14_106174628_A->G 14 106174628 106174628 A G snp 865.77 0/1 84 35 7 28 0.8 intergenic ELK2AP AU 0.0736821 0.124 Uncertain 14_106175038_T->A 14 106175038 106175038 T A snp 86.28 1/1 9 3 0 3 1.0 intergenic ELK2AP AU Uncertain 14_106188018_T->A 14 106188018 106188018 T A snp 216.77 0/1 99 12 4 8 0.67 intergenic ELK2AP AU 0.0179712 0.0714 Uncertain 14_106188103_C->T 14 106188103 106188103 C T snp 793.77 0/1 99 74 40 34 0.46 intergenic ELK2AP AU 0.189297 0.0903 0.0922 0.0974 Uncertain 14_106188155_C->T 14 106188155 106188155 C T snp 808.77 0/1 99 108 70 38 0.35 intergenic ELK2AP AU 0.0231 0.0890 Uncertain 14_106188230_C->T 14 106188230 106188230 C T snp 438.77 0/1 99 85 65 20 0.24 intergenic ELK2AP AU 0.70627 0.6756 0.6988 0.6409 Uncertain 14_106188262_T->C 14 106188262 106188262 T C snp 185.77 0/1 99 69 56 13 0.19 intergenic ELK2AP AU 0.0189 0.0141 Uncertain 14_106188526_C->T 14 106188526 106188526 C T snp 286.77 0/1 99 28 14 14 0.5 intergenic ELK2AP AU 0.00419329 0.0139 Uncertain 14_106188622_T->C 14 106188622 106188622 T C snp 321.77 0/1 99 39 23 16 0.41 intergenic ELK2AP AU 0.178914 0.0694 Uncertain 14_106209340_T->C 14 106209340 106209340 T C snp 1064.77 1/1 78 39 0 39 1.0 intergenic ELK2AP AU 0.90635 0.998 0.901241 0.9716 0.9973 Uncertain 14_106209522_C->T 14 106209522 106209522 C T snp 50.74 1/1 6 2 0 2 1.0 intergenic ELK2AP AU 0.904353 0.999 Uncertain 14_106209538_G->A 14 106209538 106209538 G A snp 48.74 1/1 6 2 0 2 1.0 intergenic ELK2AP AU Uncertain 14_106235424_A->T 14 106235424 106235424 A T snp 44.74 1/1 6 2 0 2 1.0 intergenic ELK2AP AU 0.185104 0.2004 Uncertain 14_106235485_T->C 14 106235485 106235485 T C snp 504.77 1/1 39 23 5 18 0.78 intergenic ELK2AP AU 0.235024 0.1518 Uncertain 14_106235535_C->G 14 106235535 106235535 C G snp 45.77 0/1 74 45 38 7 0.16 intergenic ELK2AP AU 0.388978 0.3919 0.4711 0.4787 Uncertain 14_106235544_C->T 14 106235544 106235544 C T snp 34.77 0/1 63 48 41 7 0.15 intergenic ELK2AP AU 0.067492 0.003 0.0154 0.0006 Uncertain 14_106235567_G->A 14 106235567 106235567 G A snp 139.77 0/1 99 50 36 14 0.28 intergenic ELK2AP AU 0.201677 0.2183 0.2614 0.2868 Uncertain 14_106235569_C->G 14 106235569 106235569 C G snp 190.77 0/1 99 51 36 15 0.29 intergenic ELK2AP AU 0.201677 0.2183 0.2619 0.2873 Uncertain 14_106235611_A->T 14 106235611 106235611 A T snp 903.77 1/1 66 42 0 42 1.0 intergenic ELK2AP AU 0.493211 0.5327 0.4330 0.5049 Uncertain 14_106235614_C->T 14 106235614 106235614 C T snp 454.77 0/1 99 41 17 24 0.59 intergenic ELK2AP AU 0.147764 0.1498 0.1132 0.1661 Uncertain 14_106235766_G->A 14 106235766 106235766 G A snp 45.77 0/1 33 4 2 2 0.5 intergenic ELK2AP AU 0.313898 0.3423 0.077260 0.3265 0.3781 Uncertain 14_106235767_C->T 14 106235767 106235767 C T snp 45.77 0/1 33 3 1 2 0.67 intergenic ELK2AP AU 0.313898 0.3423 0.076035 0.3265 0.3783 Uncertain 14_106235783_C->T 14 106235783 106235783 C T snp 40.77 0/1 69 5 3 2 0.4 intergenic ELK2AP AU 0.0433307 0.0694 0.016991 0.0251 0.0693 Uncertain 14_106235921_C->T 14 106235921 106235921 C T snp 602.77 0/1 99 62 32 30 0.48 intergenic ELK2AP AU 0.029353 0.0704 0.003152 0.0215 0.0713 Uncertain 14_106236141_G->A 14 106236141 106236141 G A snp 140.77 0/1 99 18 11 7 0.39 intergenic ELK2AP AU 0.029353 0.0704 0.002270 0.0210 0.0714 Uncertain 14_106236143_G->A 14 106236143 106236143 G A snp 337.77 0/1 99 18 7 11 0.61 intergenic ELK2AP AU 0.316494 0.3591 0.231209 0.3393 0.3950 Uncertain 14_106236910_T->C 14 106236910 106236910 T C snp 687.77 0/1 99 82 49 33 0.4 intergenic ELK2AP AU 0.0850639 0.0615 0.0109 0.0297 Uncertain 14_106237105_A->G 14 106237105 106237105 A G snp 3084.77 1/1 99 110 0 110 1.0 intergenic ELK2AP AU 0.9373 1 0.933990 0.9800 1 Uncertain 14_106237642_T->G 14 106237642 106237642 T G snp 661.77 1/1 42 30 1 29 0.97 intergenic ELK2AP AU 0.938299 1 0.9803 0.9999 Uncertain 14_106303325_A->G 14 106303325 106303325 A G snp 820.77 0/1 99 74 39 35 0.47 intergenic ELK2AP AU 0.483826 0.376 Uncertain 14_106303846_C->T 14 106303846 106303846 C T snp 5823.77 1/1 99 223 0 223 1.0 intergenic ELK2AP AU 0.997204 1 0.9989 1 Uncertain 14_106303948_A->G 14 106303948 106303948 A G snp 4080.77 1/1 99 138 0 138 1.0 intergenic ELK2AP AU 0.990415 1 0.9966 1 Uncertain 14_106307054_C->G 14 106307054 106307054 C G snp 108.77 0/1 99 10 5 5 0.5 intergenic ELK2AP AU 0.686302 0.4464 0.810704 0.7802 0.5182 Uncertain 14_106311030_G->A 14 106311030 106311030 G A snp 79.77 0/1 99 11 7 4 0.36 intergenic ELK2AP AU 0.377796 0.4306 Uncertain 14_106311031_T->C 14 106311031 106311031 T C snp 79.77 0/1 99 11 7 4 0.36 intergenic ELK2AP AU 0.377796 0.4306 Uncertain 14_106311374_A->G 14 106311374 106311374 A G snp 139.03 1/1 12 4 0 4 1.0 intergenic ELK2AP AU 0.976238 1 Uncertain 14_106312113_A->G 14 106312113 106312113 A G snp 38.77 0/1 67 5 3 2 0.4 intergenic ELK2AP AU 0.385184 0.4355 Uncertain 14_106318248_A->T 14 106318248 106318248 A T snp 2318.77 0/1 99 229 124 105 0.46 intergenic ELK2AP AU 0.383986 0.4246 0.315625 Uncertain 14_106318342_T->C 14 106318342 106318342 T C snp 2056.77 0/1 99 153 74 79 0.52 intergenic ELK2AP AU 0.540535 0.5764 0.576746 0.5206 0.6019 Uncertain 14_106318440_T->C 14 106318440 106318440 T C snp 2227.77 1/1 99 75 0 75 1.0 intergenic ELK2AP AU 0.956669 0.9663 0.975610 0.9791 0.9573 Uncertain 14_106318450_G->A 14 106318450 106318450 G A snp 2385.77 1/1 99 79 0 79 1.0 intergenic ELK2AP AU 0.977636 1 0.978410 0.9915 0.9998 Uncertain 14_106321590_C->A 14 106321590 106321590 C A snp 2719.77 1/1 99 94 0 94 1.0 intergenic ELK2AP AU 0.914936 0.999 0.907690 0.9744 0.9999 Uncertain 14_106321663_T->C 14 106321663 106321663 T C snp 1646.77 0/1 99 160 90 70 0.44 intergenic ELK2AP AU 0.239617 0.3889 0.157415 0.1239 0.3989 Uncertain 14_106321913_G->A 14 106321913 106321913 G A snp 2017.77 0/1 99 178 90 88 0.49 intergenic ELK2AP AU 0.563099 0.5744 0.572124 0.5279 0.5376 Uncertain 14_106329287_G->A 14 106329287 106329287 G A snp 85.77 0/1 67 6 2 4 0.67 intergenic MIR4537 AU 0.232628 0.2192 Uncertain 14_106329435_T->G 14 106329435 106329435 T G snp 1244.77 0/1 99 112 55 57 0.51 intergenic MIR4537 AU 0.696629 0.7704 0.7589 Uncertain 14_106329451_G->A 14 106329451 106329451 G A snp 1148.77 0/1 99 116 65 51 0.44 intergenic MIR4537 AU 0.0384 0.0430 Uncertain 14_106329452_T->C 14 106329452 106329452 T C snp 1207.77 0/1 99 117 66 51 0.44 intergenic MIR4537 AU 0.0195 0.0195 Uncertain 14_106329453_A->C 14 106329453 106329453 A C snp 1154.77 0/1 99 117 66 51 0.44 intergenic MIR4537 AU 0.63778 0.7054 Uncertain 14_106329919_G->A 14 106329919 106329919 G A snp 1211.77 0/1 99 111 61 50 0.45 intergenic MIR4537 AU Uncertain 14_106330117_G->A 14 106330117 106330117 G A snp 197.77 0/1 99 30 21 9 0.3 intergenic MIR4537 AU 0.210976 0.1992 0.2512 Uncertain 14_106330126_C->A 14 106330126 106330126 C A snp 113.77 0/1 99 23 17 6 0.26 intergenic MIR4537 AU 0.284722 Uncertain 14_106330178_G->A 14 106330178 106330178 G A snp 325.77 0/1 99 28 16 12 0.43 intergenic MIR4537 AU Uncertain 14_106330197_T->C 14 106330197 106330197 T C snp 447.77 0/1 99 36 20 16 0.44 intergenic MIR4537 AU Uncertain 14_106330320_A->C 14 106330320 106330320 A C snp 7228.77 1/1 99 249 0 249 1.0 intergenic MIR4537 AU Uncertain 14_106330355_C->G 14 106330355 106330355 C G snp 3313.77 0/1 99 250 115 135 0.54 intergenic MIR4537 AU 0.226834 Uncertain 14_106330370_G->A 14 106330370 106330370 G A snp 6932.77 1/1 99 248 2 246 0.99 intergenic MIR4537 AU 0.994609 0.997 0.996488 Uncertain 14_106330880_C->T 14 106330880 106330880 C T snp 438.77 0/1 99 56 34 22 0.39 intergenic MIR4537 AU 0.275566 0.2131 0.2604 Uncertain 14_106346740_A->G 14 106346740 106346740 A G snp 529.77 0/1 99 30 10 20 0.67 intergenic MIR4537 AU 0.570088 0.4246 Uncertain 14_106346795_G->T 14 106346795 106346795 G T snp 790.77 0/1 99 59 24 35 0.59 intergenic MIR4537 AU 0.34405 0.1369 Uncertain 14_106346990_G->C 14 106346990 106346990 G C snp 236.77 0/1 60 12 3 9 0.75 intergenic MIR4537 AU 0.446086 0.4147 0.431829 Uncertain 14_106347467_A->C 14 106347467 106347467 A C snp 6935.77 1/1 99 249 0 249 1.0 intergenic MIR4537 AU 0.999401 1 0.997769 Uncertain 14_106350569_C->T 14 106350569 106350569 C T snp 1414.77 0/1 99 102 50 52 0.51 intergenic MIR4537 AU 0.457468 0.1875 Uncertain 14_106350623_G->C 14 106350623 106350623 G C snp 2880.77 0/1 99 230 109 121 0.53 intergenic MIR4537 AU 0.457668 0.1875 Uncertain 14_106350696_A->G 14 106350696 106350696 A G snp 3567.77 0/1 99 249 115 134 0.54 intergenic MIR4537 AU 0.588859 0.5717 0.1771 Uncertain 14_106354334_T->C 14 106354334 106354334 T C snp 184.77 0/1 99 12 6 6 0.5 intergenic rs2516973 MIR4537 AU 0.551917 0.372 0.716372 Uncertain 14_106354353_C->T 14 106354353 106354353 C T snp 462.77 0/1 99 30 15 15 0.5 intergenic rs2516972 MIR4537 AU 0.437101 0.1865 Uncertain 14_106356974_G->C 14 106356974 106356974 G C snp 918.77 0/1 99 78 39 39 0.5 intergenic rs2753529 MIR4537 AU 0.4377 0.1935 Uncertain 14_106357749_C->T 14 106357749 106357749 C T snp 1113.77 0/1 99 99 58 41 0.41 intergenic rs2254707 MIR4537 AU 0.707069 0.4871 Uncertain 14_106359259_A->G 14 106359259 106359259 A G snp 118.77 0/1 51 7 2 5 0.71 intergenic rs2857366 MIR4537 AU 0.72484 0.4891 Uncertain 14_106359327_G->A 14 106359327 106359327 G A snp 163.77 0/1 99 17 7 10 0.59 intergenic rs3021114 MIR4537 AU 0.232228 0.0635 Uncertain 14_106359328_C->G 14 106359328 106359328 C G snp 163.77 0/1 99 17 7 10 0.59 intergenic rs2983757 MIR4537 AU 0.231829 0.0635 Uncertain 14_106361418_T->C 14 106361418 106361418 T C snp 4062.77 1/1 99 158 0 158 1.0 intergenic rs2753533 MIR4537 AU 0.9998 1 0.999335 Uncertain 14_106361561_G->A 14 106361561 106361561 G A snp 2093.77 1/1 99 70 0 70 1.0 intergenic rs61993631 MIR4537 AU 0.981871 0.9946 0.9997 Uncertain 14_106361562_C->T 14 106361562 106361562 C T snp 2040.77 1/1 99 69 0 69 1.0 intergenic rs61993632 MIR4537 AU 0.989816 1 0.982274 0.9944 0.9997 Uncertain 14_106361564_A->T 14 106361564 106361564 A T snp 2130.77 1/1 99 69 0 69 1.0 intergenic rs61993633 MIR4537 AU 0.989816 1 0.982726 0.9942 0.9997 Uncertain 14_106368604_A->G 14 106368604 106368604 A G snp 59.74 1/1 6 3 0 3 1.0 intergenic rs2516963 MIR4537 AU 0.811502 0.8849 Uncertain 14_106368614_T->C 14 106368614 106368614 T C snp 54.74 1/1 6 3 0 3 1.0 intergenic rs2857355 MIR4537 AU 0.811502 0.8849 Uncertain 14_106369335_G->A 14 106369335 106369335 G A snp 794.77 0/1 99 90 57 33 0.37 intergenic rs2857353 MIR4537 AU 0.275559 0.0714 Uncertain 14_106369534_A->G 14 106369534 106369534 A G snp 5811.77 1/1 99 199 0 199 1.0 intergenic rs2516960 MIR4537 AU 0.792133 0.8899 0.791472 0.7716 0.8743 Uncertain 14_106370437_G->A 14 106370437 106370437 G A snp 305.77 0/1 99 26 12 14 0.54 intergenic rs79874727 MIR4537 AU 0.255791 0.5169 0.118592 Uncertain 14_106370603_G->C 14 106370603 106370603 G C snp 916.77 1/1 66 37 0 37 1.0 intergenic rs2857350 MIR4537 AU 0.784145 0.8859 0.781366 0.7781 0.9065 Uncertain 14_106380174_C->A 14 106380174 106380174 C A snp 580.77 1/1 42 22 0 22 1.0 intergenic rs2157630 MIR4537 AU 1 1 1.0000 1 Uncertain 14_106385198_G->A 14 106385198 106385198 G A snp 170.77 0/1 99 13 7 6 0.46 ncRNA_intronic rs79497195 KIAA0125 AU 0.277556 0.494 Uncertain 14_106385245_C->G 14 106385245 106385245 C G snp 235.77 0/1 99 23 12 11 0.48 ncRNA_intronic rs2857332 KIAA0125 AU 0.757588 0.8492 Uncertain 14_106385332_G->C 14 106385332 106385332 G C snp 295.77 0/1 99 30 17 13 0.43 ncRNA_intronic rs2250700 KIAA0125 AU 0.761581 0.8522 0.753618 0.7345 0.8319 Uncertain 14_106387171_T->C 14 106387171 106387171 T C snp 896.77 0/1 99 78 44 34 0.44 ncRNA_intronic rs56082637 KIAA0125 AU 0.0940495 0.129 Uncertain 14_106388588_A->T 14 106388588 106388588 A T snp 110.77 0/1 99 8 4 4 0.5 ncRNA_intronic rs2516944 KIAA0125 AU 0.810503 0.8482 Uncertain 14_106436780_A->G 14 106436780 106436780 A G snp 2848.77 1/1 99 108 0 108 1.0 ncRNA_exonic rs67875134 ADAM6 AU 0.597444 0.7351 0.6888 0.7283 Uncertain 14_106437037_CATGGTTTCGTTATACACAGGAGCAAGTGTTTCAAAAA->- 14 106437037 106437074 CATGGTTTCGTTATACACAGGAGCAAGTGTTTCAAAAA - indel 19377.7 1/1 99 77 0 77 1.0 ncRNA_exonic rs71405043 ADAM6 AU 0.21865 0.4226 0.2775 0.3988 Uncertain 14_106452628_T->G 14 106452628 106452628 T G snp 1741.77 1/1 99 46 0 46 1.0 intergenic ADAM6 AU 0.619409 0.745 0.466551 0.6302 0.7326 Uncertain 14_106452690_G->A 14 106452690 106452690 G A snp 3846.77 0/1 40 152 11 141 0.93 intergenic ADAM6 AU 0.153554 0.3859 0.034779 0.0898 0.3846 Uncertain 14_106452693_G->A 14 106452693 106452693 G A snp 58.77 0/1 87 165 152 13 0.08 intergenic ADAM6 AU 0.000199681 3.334e-05 0 Uncertain 14_106452698_G->C 14 106452698 106452698 G C snp 77.77 0/1 99 177 162 15 0.08 intergenic ADAM6 AU 2.499e-05 0 Uncertain 14_106452705_C->G 14 106452705 106452705 C G snp 221.77 0/1 99 198 178 20 0.1 intergenic ADAM6 AU 0.000599042 0.001 5.828e-05 0.0001 Uncertain 14_106452710_C->G 14 106452710 106452710 C G snp 312.77 0/1 99 217 193 24 0.11 intergenic ADAM6 AU 0.000599042 5.826e-05 0 Uncertain 14_106452719_C->G 14 106452719 106452719 C G snp 427.77 0/1 99 235 207 28 0.12 intergenic ADAM6 AU 0.000998403 4.992e-05 0.0001 Uncertain 14_106452722_C->T 14 106452722 106452722 C T snp 367.77 0/1 99 245 217 28 0.11 intergenic ADAM6 AU 8.316e-06 0 Uncertain 14_106452723_A->G 14 106452723 106452723 A G snp 425.77 0/1 99 248 220 28 0.11 intergenic ADAM6 AU 2.495e-05 0 Uncertain 14_106452735_C->G 14 106452735 106452735 C G snp 467.77 0/1 99 249 215 34 0.14 intergenic ADAM6 AU 4.157e-05 0 Uncertain 14_106452737_G->T 14 106452737 106452737 G T snp 498.77 0/1 99 248 214 34 0.14 intergenic ADAM6 AU Uncertain 14_106452738_A->G 14 106452738 106452738 A G snp 515.77 0/1 99 249 212 37 0.15 intergenic ADAM6 AU 4.156e-05 0.0002 Uncertain 14_106452744_G->A 14 106452744 106452744 G A snp 701.77 0/1 99 249 198 51 0.2 intergenic ADAM6 AU 1.662e-05 0 Uncertain 14_106452763_C->A 14 106452763 106452763 C A snp 878.77 0/1 99 249 192 57 0.23 intergenic ADAM6 AU 0 0 Uncertain 14_106452764_C->T 14 106452764 106452764 C T snp 893.77 0/1 99 249 192 57 0.23 intergenic ADAM6 AU 6.646e-05 0 Uncertain 14_106452781_G->T 14 106452781 106452781 G T snp 1021.77 0/1 99 244 185 59 0.24 intergenic ADAM6 AU Uncertain 14_106452782_T->G 14 106452782 106452782 T G snp 1025.77 0/1 99 244 185 59 0.24 intergenic ADAM6 AU Uncertain 14_106452789_T->C 14 106452789 106452789 T C snp 1032.77 0/1 99 248 188 60 0.24 intergenic ADAM6 AU 0.000599042 2.491e-05 0 Uncertain 14_106452793_T->G 14 106452793 106452793 T G snp 985.77 0/1 99 248 187 61 0.25 intergenic ADAM6 AU 1.661e-05 0 Uncertain 14_106452796_C->T 14 106452796 106452796 C T snp 1000.77 0/1 99 246 186 60 0.24 intergenic ADAM6 AU 0.000399361 2.491e-05 0 Uncertain 14_106452801_C->T 14 106452801 106452801 C T snp 997.77 0/1 99 250 191 59 0.24 intergenic ADAM6 AU 0.0001 0 Uncertain 14_106452804_T->C 14 106452804 106452804 T C snp 922.77 0/1 99 250 191 59 0.24 intergenic ADAM6 AU 0.000399361 6.642e-05 0 Uncertain 14_106452805_T->C 14 106452805 106452805 T C snp 966.77 0/1 99 249 190 59 0.24 intergenic ADAM6 AU 0.000399361 7.472e-05 0 Uncertain 14_106452817_A->G 14 106452817 106452817 A G snp 5166.77 0/1 99 250 62 188 0.75 intergenic ADAM6 AU 0.277955 0.4325 0.154165 0.2101 0.4241 Uncertain 14_106452847_C->A 14 106452847 106452847 C A snp 745.77 0/1 99 248 198 50 0.2 intergenic ADAM6 AU 0.0003 0 Uncertain 14_106452852_C->T 14 106452852 106452852 C T snp 766.77 0/1 99 246 198 48 0.2 intergenic ADAM6 AU 0.0004 0 Uncertain 14_106471268_A->G 14 106471268 106471268 A G snp 5889.77 1/1 99 194 3 191 0.98 intergenic ADAM6 AU 0.59365 0.7371 0.528188 0.6211 0.7311 Uncertain 14_106471273_C->T 14 106471273 106471273 C T snp 6024.77 1/1 99 201 3 198 0.99 intergenic ADAM6 AU 0.593251 0.7371 0.472191 0.5944 0.7092 Uncertain 14_106471353_C->T 14 106471353 106471353 C T snp 7858.77 1/1 99 250 0 250 1.0 intergenic ADAM6 AU 0.592252 0.7361 0.549919 0.6166 0.7284 Uncertain 14_106471388_C->A 14 106471388 106471388 C A snp 7645.77 1/1 99 247 0 247 1.0 intergenic ADAM6 AU 0.612021 0.7381 0.571382 0.6280 0.7355 Uncertain 14_106471410_T->C 14 106471410 106471410 T C snp 961.77 0/1 99 248 183 65 0.26 intergenic ADAM6 AU 0.000399361 0.1965 0.2453 Uncertain 14_106471417_G->A 14 106471417 106471417 G A snp 982.77 0/1 99 247 180 67 0.27 intergenic ADAM6 AU 0.000399361 0.1977 0.2493 Uncertain 14_106471426_G->T 14 106471426 106471426 G T snp 987.77 0/1 99 248 178 70 0.28 intergenic ADAM6 AU 0.2101 0.2623 Uncertain 14_106471437_G->T 14 106471437 106471437 G T snp 1039.77 0/1 99 248 174 74 0.3 intergenic ADAM6 AU 0.3286 0.3766 Uncertain 14_106471509_C->A 14 106471509 106471509 C A snp 919.77 0/1 99 200 144 56 0.28 intergenic ADAM6 AU 0.2190 0.2726 Uncertain 14_106471515_C->A 14 106471515 106471515 C A snp 637.77 0/1 99 177 135 42 0.24 intergenic ADAM6 AU 0.2108 0.2618 Uncertain 14_106471522_C->T 14 106471522 106471522 C T snp 473.77 0/1 99 165 130 35 0.21 intergenic ADAM6 AU 0.000199681 0.1314 0.1744 Uncertain 14_106471528_C->A 14 106471528 106471528 C A snp 3406.77 0/1 99 154 31 123 0.8 intergenic ADAM6 AU 0.586262 0.7371 0.5079 0.5641 Uncertain 14_106471534_A->C 14 106471534 106471534 A C snp 3979.77 ./1 99 142 0 142 1.0 intergenic ADAM6 AU 0.0752 0.1145 Uncertain 14_106471534_A->G 14 106471534 106471534 A G snp 3979.77 ./1 99 142 0 142 1.0 intergenic ADAM6 AU 0.605631 0.7361 0.548499 0.5150 0.5683 Uncertain 14_106471547_A->G 14 106471547 106471547 A G snp 3749.77 1/1 99 125 0 125 1.0 intergenic ADAM6 AU 0.584465 0.7351 0.6160 0.7230 Uncertain 14_106471580_G->T 14 106471580 106471580 G T snp 2624.77 1/1 99 89 0 89 1.0 intergenic ADAM6 AU 0.585064 0.7361 0.5685 0.6608 Uncertain 14_106471581_C->T 14 106471581 106471581 C T snp 2585.77 1/1 99 88 1 87 0.99 intergenic ADAM6 AU 0.585463 0.7361 0.5714 0.6653 Uncertain 14_106471595_T->C 14 106471595 106471595 T C snp 2635.77 1/1 99 90 0 90 1.0 intergenic ADAM6 AU 0.599441 0.7381 0.5897 0.6871 Uncertain 14_106471685_G->A 14 106471685 106471685 G A snp 1774.77 1/1 99 68 0 68 1.0 intergenic ADAM6 AU 0.265575 0.4335 0.141899 0.2023 0.4161 Uncertain 14_106478137_C->T 14 106478137 106478137 C T snp 512.53 1/1 3 19 2 17 0.89 intergenic ADAM6 AU 0.3093 0.2504 Uncertain 14_106478194_C->T 14 106478194 106478194 C T snp 1642.77 1/1 99 60 0 60 1.0 intergenic ADAM6 AU 0.628195 0.6875 0.4599 0.5365 Uncertain 14_106478311_-->CCACTG 14 106478311 106478311 - CCACTG indel 7283.73 1/1 99 80 0 80 1.0 intergenic ADAM6 AU 0.215455 0.1796 0.260614 0.1852 0.2414 Uncertain 14_106478355_C->G 14 106478355 106478355 C G snp 1388.56 0/1 7 60 8 52 0.87 intergenic ADAM6 AU 0.195687 0.128 0.1908 0.2159 Uncertain 14_106478356_C->T 14 106478356 106478356 C T snp 1344.74 0/1 6 60 8 52 0.87 intergenic ADAM6 AU 0.195687 0.128 0.1905 0.2159 Uncertain 14_106478401_G->A 14 106478401 106478401 G A snp 33.77 0/1 62 27 21 6 0.22 intergenic ADAM6 AU 0.507987 0.6002 0.4413 0.5162 Uncertain 14_106478442_G->A 14 106478442 106478442 G A snp 146.77 0/1 89 14 8 6 0.43 intergenic ADAM6 AU 0.0373 0.0392 Uncertain 14_106478445_A->C 14 106478445 106478445 A C snp 141.77 0/1 99 14 8 6 0.43 intergenic ADAM6 AU 0.0376 0.0384 Uncertain 14_106478456_C->G 14 106478456 106478456 C G snp 33.77 0/1 62 9 6 3 0.33 intergenic ADAM6 AU 0.0093 0.0070 Uncertain 14_106494269_T->C 14 106494269 106494269 T C snp 3364.77 1/1 99 123 2 121 0.98 intergenic ADAM6 AU 0.694289 0.8363 0.636038 0.6986 0.8552 Uncertain 14_106578952_A->T 14 106578952 106578952 A T snp 2239.77 1/1 99 73 0 73 1.0 intergenic ADAM6 AU 1 1 Uncertain 14_106667902_-->C 14 106667902 106667902 - C indel 6428.73 1/1 99 160 0 160 1.0 intergenic ADAM6 AU 0.999601 1 0.997994 0.9996 0.9983 Uncertain 14_106668098_G->C 14 106668098 106668098 G C snp 436.77 1/1 36 12 0 12 1.0 intergenic ADAM6 AU 1 1 Uncertain 14_106725138_C->A 14 106725138 106725138 C A snp 200.77 0/1 99 16 9 7 0.44 intergenic ADAM6 AU Uncertain 14_106725276_G->A 14 106725276 106725276 G A snp 2437.77 0/1 99 250 151 99 0.4 intergenic ADAM6 AU 0.048123 0.0843 0.019585 0.0205 0.0925 Uncertain 14_106725315_G->A 14 106725315 106725315 G A snp 2898.77 0/1 99 250 137 113 0.45 intergenic ADAM6 AU 0.0457268 0.0833 0.012900 0.0195 0.0919 Uncertain 14_106725329_C->T 14 106725329 106725329 C T snp 2310.77 0/1 99 249 155 94 0.38 intergenic ADAM6 AU 0.0307508 0.0704 0.002013 0.0193 0.0920 Uncertain 14_106725335_T->C 14 106725335 106725335 T C snp 1704.77 0/1 99 240 166 74 0.31 intergenic ADAM6 AU 0.0307508 0.0704 7.61e-05 0.0001 Uncertain 14_106725336_A->G 14 106725336 106725336 A G snp 1694.77 0/1 99 241 166 75 0.31 intergenic ADAM6 AU 0.0311502 0.0694 3.445e-05 0 Uncertain 14_106725338_C->T 14 106725338 106725338 C T snp 1583.77 0/1 99 243 169 74 0.3 intergenic ADAM6 AU 0.0311502 0.0694 2.579e-05 0 Uncertain 14_106725340_C->T 14 106725340 106725340 C T snp 1665.77 0/1 99 244 170 74 0.3 intergenic ADAM6 AU 0.0311502 0.0694 8.598e-06 0 Uncertain 14_106725341_T->A 14 106725341 106725341 T A snp 1730.77 0/1 99 248 170 78 0.31 intergenic ADAM6 AU 0.0311502 0.0694 Uncertain 14_106725346_G->A 14 106725346 106725346 G A snp 1829.77 0/1 99 248 166 82 0.33 intergenic ADAM6 AU 0.0311502 0.0694 0.005054 0.0195 0.0919 Uncertain 14_106725515_A->C 14 106725515 106725515 A C snp 3537.77 0/1 99 236 95 141 0.6 intergenic ADAM6 AU 0.0483227 0.0833 0.007904 0.0207 0.0921 Uncertain 14_106725517_A->G 14 106725517 106725517 A G snp 3554.77 0/1 99 236 97 139 0.59 intergenic ADAM6 AU 0.048722 0.0853 0.0264 0.0924 Uncertain 14_106725521_A->C 14 106725521 106725521 A C snp 3437.77 0/1 99 236 98 138 0.58 intergenic ADAM6 AU 0.0483227 0.0833 0.0260 0.0922 Uncertain 14_106725525_C->A 14 106725525 106725525 C A snp 3443.77 0/1 99 245 107 138 0.56 intergenic ADAM6 AU 0.048123 0.0833 0.0206 0.0921 Uncertain 14_106725526_T->A 14 106725526 106725526 T A snp 3453.77 0/1 99 249 107 142 0.57 intergenic ADAM6 AU 0.048123 0.0833 0.0206 0.0920 Uncertain 14_106725543_A->T 14 106725543 106725543 A T snp 3792.77 0/1 99 246 104 142 0.58 intergenic ADAM6 AU 0.0491214 0.0833 0.0207 0.0924 Uncertain 14_106725545_G->A 14 106725545 106725545 G A snp 3713.77 0/1 99 249 109 140 0.56 intergenic ADAM6 AU 0.0461262 0.0794 0.002091 0.0262 0.0928 Uncertain 14_106725546_T->A 14 106725546 106725546 T A snp 3574.77 0/1 99 250 111 139 0.56 intergenic ADAM6 AU 0.0461262 0.0794 0.0262 0.0928 Uncertain 14_106725574_T->C 14 106725574 106725574 T C snp 3965.77 0/1 99 250 102 148 0.59 intergenic ADAM6 AU 0.0561102 0.0843 0.0855 0.1006 Uncertain 14_106725658_G->A 14 106725658 106725658 G A snp 3452.77 0/1 99 227 96 131 0.58 intergenic ADAM6 AU 0.0479233 0.0853 0.021954 0.0209 0.0942 Uncertain 14_106725662_T->C 14 106725662 106725662 T C snp 3386.77 0/1 99 224 94 130 0.58 intergenic ADAM6 AU 0.0599042 0.0853 0.0295 0.0944 Uncertain 14_106780817_A->C 14 106780817 106780817 A C snp 1891.77 1/1 99 60 0 60 1.0 intergenic LINC00226 AU 0.828674 0.9732 0.7256 0.9851 Uncertain 14_106791006_C->T 14 106791006 106791006 C T snp 104.77 0/1 99 113 91 22 0.19 intergenic LINC00226 AU 0.537939 0.4772 0.5439 0.4677 Uncertain 14_106791119_A->G 14 106791119 106791119 A G snp 6420.77 1/1 99 243 6 237 0.98 intergenic LINC00226 AU 0.51238 0.5764 0.489936 0.4685 0.5971 Uncertain 14_106791200_G->A 14 106791200 106791200 G A snp 5384.77 1/1 99 181 0 181 1.0 intergenic LINC00226 AU 0.484625 0.5486 0.003204 0.4567 0.5754 Uncertain 14_106791201_C->G 14 106791201 106791201 C G snp 5367.77 1/1 99 179 0 179 1.0 intergenic LINC00226 AU 0.484625 0.5486 0.4568 0.5759 Uncertain 14_106805440_A->G 14 106805440 106805440 A G snp 4326.77 1/1 99 160 0 160 1.0 intergenic LINC00226 AU 0.999401 0.999 0.9997 0.9999 Uncertain 14_106805508_G->A 14 106805508 106805508 G A snp 1770.77 1/1 99 57 0 57 1.0 intergenic LINC00226 AU 0.9998 1 Uncertain 14_106815706_C->T 14 106815706 106815706 C T snp 958.77 1/1 75 44 0 44 1.0 intergenic LINC00226 AU 0.269569 0.249 0.0689 0.2096 Uncertain 14_106815723_C->T 14 106815723 106815723 C T snp 1595.77 1/1 99 68 0 68 1.0 intergenic LINC00226 AU 0.278155 0.251 0.1216 0.2865 Uncertain 14_106845193_C->G 14 106845193 106845193 C G snp 419.77 1/1 33 11 0 11 1.0 intergenic LINC00226 AU 1 1 Uncertain 14_106845209_C->G 14 106845209 106845209 C G snp 598.77 1/1 45 15 0 15 1.0 intergenic LINC00226 AU 1 1 Uncertain 14_106845487_C->G 14 106845487 106845487 C G snp 7388.77 1/1 99 250 0 250 1.0 intergenic LINC00226 AU 0.122005 0.2093 0.045598 0.0460 0.2306 Uncertain 14_106859131_G->C 14 106859131 106859131 G C snp 172.9 1/1 15 8 0 8 1.0 intergenic LINC00226 AU 0.470248 0.6339 Uncertain 14_106859191_G->C 14 106859191 106859191 G C snp 1134.77 1/1 90 43 1 42 0.98 intergenic LINC00226 AU Uncertain 14_106859351_G->C 14 106859351 106859351 G C snp 1760.77 1/1 99 79 0 79 1.0 intergenic LINC00226 AU 1 1 Uncertain 14_106866427_G->A 14 106866427 106866427 G A snp 446.77 0/1 99 195 167 28 0.14 intergenic LINC00226 AU 0.0709 0.0589 Uncertain 14_106866434_C->T 14 106866434 106866434 C T snp 571.77 0/1 99 215 181 34 0.16 intergenic LINC00226 AU 0.0730 0.0592 Uncertain 14_106866449_T->C 14 106866449 106866449 T C snp 861.77 0/1 99 250 205 45 0.18 intergenic LINC00226 AU 0.0972444 0.0258 0.1383 0.1153 Uncertain 14_106866465_A->G 14 106866465 106866465 A G snp 1287.77 0/1 99 250 187 63 0.25 intergenic LINC00226 AU 0.1546 0.1449 Uncertain 14_106866565_C->A 14 106866565 106866565 C A snp 1301.77 0/1 99 249 185 64 0.26 intergenic LINC00226 AU 0.229034 0.2867 0.270662 0.2703 0.4284 Uncertain 14_106866588_T->C 14 106866588 106866588 T C snp 1533.77 0/1 99 249 181 68 0.27 intergenic LINC00226 AU 0.184449 0.1746 0.1743 Uncertain 14_106866654_T->C 14 106866654 106866654 T C snp 1391.77 0/1 99 250 186 64 0.26 intergenic LINC00226 AU 0.1743 0.1730 Uncertain 14_106866668_C->A 14 106866668 106866668 C A snp 1308.77 0/1 99 250 183 67 0.27 intergenic LINC00226 AU 0.1740 0.1729 Uncertain 14_106866675_C->G 14 106866675 106866675 C G snp 1425.77 0/1 99 250 186 64 0.26 intergenic LINC00226 AU 0.139135 0.1740 0.1728 Uncertain 14_106866748_A->T 14 106866748 106866748 A T snp 1671.77 0/1 99 250 164 86 0.34 intergenic LINC00226 AU 0.0351438 0.001 0.184560 0.1758 0.1740 Uncertain 14_106866810_C->T 14 106866810 106866810 C T snp 1332.77 0/1 99 247 173 74 0.3 intergenic LINC00226 AU 0.1738 0.1736 Uncertain 14_106866822_C->G 14 106866822 106866822 C G snp 1231.77 0/1 99 249 178 71 0.29 intergenic LINC00226 AU 0.1735 0.1736 Uncertain 14_106866865_G->C 14 106866865 106866865 G C snp 1032.77 0/1 99 216 163 53 0.25 intergenic LINC00226 AU 0.1735 0.1738 Uncertain 14_106866869_G->A 14 106866869 106866869 G A snp 968.77 0/1 99 209 159 50 0.24 intergenic LINC00226 AU 0.1735 0.1744 Uncertain 14_106866891_G->T 14 106866891 106866891 G T snp 548.77 0/1 99 152 120 32 0.21 intergenic LINC00226 AU 0.1707 0.1722 Uncertain 14_106866893_G->A 14 106866893 106866893 G A snp 438.77 0/1 99 148 118 30 0.2 intergenic LINC00226 AU 0.1707 0.1723 Uncertain 14_106877262_G->A 14 106877262 106877262 G A snp 297.78 1/1 24 9 0 9 1.0 intergenic LINC00226 AU 1 1 Uncertain 14_106877300_C->T 14 106877300 106877300 C T snp 264.77 0/1 99 39 27 12 0.31 intergenic LINC00226 AU Uncertain 14_106877390_C->G 14 106877390 106877390 C G snp 2067.77 0/1 99 142 54 88 0.62 intergenic LINC00226 AU 0.185304 0.1121 Uncertain 14_106877445_C->T 14 106877445 106877445 C T snp 1979.77 0/1 99 148 64 84 0.57 intergenic LINC00226 AU 0.0541134 0.0079 Uncertain 14_106877447_-->TGATCT 14 106877447 106877447 - TGATCT indel 7259.73 0/1 99 143 61 82 0.57 intergenic rs57593057 LINC00226 AU 0.0541134 0.0079 Uncertain 14_106877519_A->G 14 106877519 106877519 A G snp 1519.77 0/1 99 106 46 60 0.57 intergenic LINC00226 AU 0.278754 0.1657 Uncertain 14_106877535_C->G 14 106877535 106877535 C G snp 457.77 0/1 99 93 69 24 0.26 intergenic LINC00226 AU 0.0535144 0.001 Uncertain 14_106877551_A->C 14 106877551 106877551 A C snp 1388.77 0/1 99 78 23 55 0.71 intergenic LINC00226 AU 0.660343 0.7778 Uncertain 14_106877553_C->G 14 106877553 106877553 C G snp 330.77 0/1 99 76 58 18 0.24 intergenic LINC00226 AU Uncertain 14_106877555_C->T 14 106877555 106877555 C T snp 316.77 0/1 99 73 56 17 0.23 intergenic LINC00226 AU 0.000798722 Uncertain 14_106877556_C->G 14 106877556 106877556 C G snp 529.77 0/1 99 73 51 22 0.3 intergenic LINC00226 AU 0.224441 0.1558 Uncertain 14_106877583_T->G 14 106877583 106877583 T G snp 235.77 0/1 99 50 37 13 0.26 intergenic LINC00226 AU 0.00119808 0.0651 0.0057 Uncertain 14_106877618_G->C 14 106877618 106877618 G C snp 373.77 0/1 99 30 18 12 0.4 intergenic LINC00226 AU 0.159744 0.121 0.2469 0.1317 Uncertain 14_106877637_A->G 14 106877637 106877637 A G snp 492.77 0/1 99 30 14 16 0.53 intergenic LINC00226 AU 0.4195 0.3790 Uncertain 14_106877646_T->C 14 106877646 106877646 T C snp 239.77 0/1 99 32 22 10 0.31 intergenic LINC00226 AU 0.223043 0.1567 0.078673 0.1295 0.1267 Uncertain 14_106877700_G->T 14 106877700 106877700 G T snp 1253.77 0/1 99 72 21 51 0.71 intergenic LINC00226 AU 0.256989 0.1468 0.335343 0.3847 0.2803 Uncertain 14_106877753_A->G 14 106877753 106877753 A G snp 1374.77 0/1 99 142 87 55 0.39 intergenic LINC00226 AU 0.315541 0.2895 0.1656 Uncertain 14_106877796_G->C 14 106877796 106877796 G C snp 1398.77 0/1 99 178 113 65 0.37 intergenic LINC00226 AU 0.2545 0.0893 Uncertain 14_106877817_ACT->- 14 106877817 106877819 ACT - indel 2274.73 0/1 99 176 109 67 0.38 intergenic LINC00226 AU 0.240783 1.764e-05 0 Uncertain 14_106877822_T->C 14 106877822 106877822 T C snp 1068.77 0/1 99 168 113 55 0.33 intergenic LINC00226 AU 0.00199681 0.001 0.0002 0 Uncertain 14_106877836_C->T 14 106877836 106877836 C T snp 1087.77 0/1 99 180 122 58 0.32 intergenic LINC00226 AU 0.00219649 0.002 0.0922 0.0315 Uncertain 14_106877837_C->A 14 106877837 106877837 C A snp 1065.77 0/1 99 180 123 57 0.32 intergenic LINC00226 AU 0.0933 0.0318 Uncertain 14_106877912_G->C 14 106877912 106877912 G C snp 549.77 0/1 99 152 125 27 0.18 intergenic LINC00226 AU 0.2821 0.1622 Uncertain 14_106877947_A->G 14 106877947 106877947 A G snp 172.77 0/1 99 143 127 16 0.11 intergenic LINC00226 AU 0.2734 0.1535 Uncertain 14_106878056_T->G 14 106878056 106878056 T G snp 828.77 0/1 99 81 44 37 0.46 intergenic LINC00226 AU 0.224042 0.1647 0.3281 0.2043 Uncertain 14_106878067_T->G 14 106878067 106878067 T G snp 731.77 0/1 99 76 43 33 0.43 intergenic LINC00226 AU 0.224042 0.1647 0.313324 0.3400 0.2131 Uncertain 14_106878071_A->G 14 106878071 106878071 A G snp 708.77 0/1 99 73 41 32 0.44 intergenic LINC00226 AU 0.211062 0.1518 0.319721 0.3414 0.2145 Uncertain 14_106922028_C->T 14 106922028 106922028 C T snp 393.77 1/1 30 11 0 11 1.0 intergenic LINC00226 AU 1 1 Uncertain 14_106922048_-->T 14 106922048 106922048 - T indel 217.73 0/1 99 28 20 8 0.29 intergenic LINC00226 AU 0.302516 0.1657 Uncertain 14_106922052_T->G 14 106922052 106922052 T G snp 337.77 0/1 99 38 26 12 0.32 intergenic LINC00226 AU Uncertain 14_106922090_T->C 14 106922090 106922090 T C snp 687.77 0/1 99 106 81 25 0.24 intergenic LINC00226 AU 0.13738 0.001 Uncertain 14_106922091_G->A 14 106922091 106922091 G A snp 689.77 0/1 99 106 81 25 0.24 intergenic LINC00226 AU 0.13738 0.001 Uncertain 14_106922093_T->C 14 106922093 106922093 T C snp 686.77 0/1 99 111 86 25 0.23 intergenic LINC00226 AU 0.13738 0.001 Uncertain 14_106922094_T->A 14 106922094 106922094 T A snp 674.77 0/1 99 115 90 25 0.22 intergenic LINC00226 AU Uncertain 14_106922368_C->T 14 106922368 106922368 C T snp 4964.77 1/1 99 171 0 171 1.0 intergenic LINC00226 AU 0.723642 0.619 Uncertain 14_106922411_A->C 14 106922411 106922411 A C snp 860.77 0/1 99 62 33 29 0.47 intergenic LINC00226 AU Uncertain 14_106922435_T->C 14 106922435 106922435 T C snp 583.77 0/1 99 35 17 18 0.51 intergenic LINC00226 AU 0.299321 0.1587 Uncertain 14_106922492_T->G 14 106922492 106922492 T G snp 94.28 1/1 9 3 0 3 1.0 intergenic LINC00226 AU Uncertain 14_106926064_G->A 14 106926064 106926064 G A snp 164.77 0/1 99 18 12 6 0.33 intergenic LINC00226 AU 0.13099 0.3472 Uncertain 14_106926107_T->C 14 106926107 106926107 T C snp 1034.77 0/1 99 65 26 39 0.6 intergenic LINC00226 AU Uncertain 14_106926145_C->G 14 106926145 106926145 C G snp 569.77 0/1 99 107 82 25 0.23 intergenic LINC00226 AU 0.2947 0.1723 Uncertain 14_106926167_G->A 14 106926167 106926167 G A snp 884.77 0/1 99 148 108 40 0.27 intergenic LINC00226 AU 0.2940 0.1720 Uncertain 14_106926176_C->T 14 106926176 106926176 C T snp 1049.77 0/1 99 165 119 46 0.28 intergenic LINC00226 AU 0.2935 0.1718 Uncertain 14_106926223_T->C 14 106926223 106926223 T C snp 1864.77 0/1 99 250 172 78 0.31 intergenic LINC00226 AU 0.310076 0.2919 0.1720 Uncertain 14_106926287_G->A 14 106926287 106926287 G A snp 2078.77 0/1 99 250 168 82 0.33 intergenic LINC00226 AU 0.313716 0.2919 0.1720 Uncertain 14_106926311_T->G 14 106926311 106926311 T G snp 1987.77 0/1 99 250 169 81 0.32 intergenic LINC00226 AU 0.204872 0.1647 0.137920 0.1603 0.1713 Uncertain 14_106926328_A->C 14 106926328 106926328 A C snp 1659.77 0/1 99 250 183 67 0.27 intergenic LINC00226 AU 0.125599 0.3304 0.049000 0.0981 0.3767 Uncertain 14_106926362_C->T 14 106926362 106926362 C T snp 1550.77 0/1 99 250 186 64 0.26 intergenic LINC00226 AU 0.130591 0.3452 0.050520 0.0980 0.3757 Uncertain 14_106926388_T->C 14 106926388 106926388 T C snp 3978.77 0/1 99 246 105 141 0.57 intergenic LINC00226 AU 0.360644 0.3689 0.4778 Uncertain 14_106926456_A->C 14 106926456 106926456 A C snp 875.77 0/1 99 133 97 36 0.27 intergenic LINC00226 AU 0.13099 0.3452 0.045136 0.0975 0.3721 Uncertain 14_106926515_C->A 14 106926515 106926515 C A snp 35.77 0/1 64 30 25 5 0.17 intergenic LINC00226 AU 0.128395 0.3442 0.0212 0.0978 Uncertain 14_106926516_T->A 14 106926516 106926516 T A snp 45.77 0/1 74 30 25 5 0.17 intergenic LINC00226 AU 0.128395 0.3442 0.0207 0.0935 Uncertain 14_106937400_T->A 14 106937400 106937400 T A snp 538.77 0/1 99 71 45 26 0.37 intergenic rs10134807 LINC00226 AU Uncertain 14_106937467_-->C 14 106937467 106937467 - C indel 768.73 1/1 57 21 0 21 1.0 upstream rs371986610 LINC00221 AU 1 1 Uncertain 14_106940306_A->C 14 106940306 106940306 A C snp 1467.77 0/1 99 87 28 59 0.68 ncRNA_intronic rs1557583 LINC00221 AU Uncertain 14_106940351_C->T 14 106940351 106940351 C T snp 1063.77 0/1 99 215 150 65 0.3 ncRNA_intronic rs142032068 LINC00221 AU Uncertain 14_106940552_C->T 14 106940552 106940552 C T snp 403.77 0/1 99 130 110 20 0.15 ncRNA_intronic rs4977154 LINC00221 AU 0.20627 0.131 Uncertain 14_106963101_C->T 14 106963101 106963101 C T snp 2648.77 0/1 99 249 137 112 0.45 intergenic LINC00221 AU 0.131789 0.3542 0.053405 0.0996 0.3888 Uncertain 14_107012917_T->C 14 107012917 107012917 T C snp 274.77 0/1 99 28 19 9 0.32 intergenic LINC00221 AU 0.378195 0.4266 0.354903 0.3390 0.4506 Uncertain 14_107013129_A->C 14 107013129 107013129 A C snp 2997.77 0/1 99 249 122 127 0.51 intergenic LINC00221 AU 0.392572 0.4246 0.368043 0.3406 0.4493 Uncertain 14_107034910_C->T 14 107034910 107034910 C T snp 2108.77 0/1 99 204 114 90 0.44 intergenic LINC00221 AU 0.0155751 0.0685 0.000245 0.0052 0.0555 Uncertain 14_107048687_C->T 14 107048687 107048687 C T snp 157.77 0/1 99 159 141 18 0.11 intergenic LINC00221 AU Uncertain 14_107048702_G->A 14 107048702 107048702 G A snp 2255.77 0/1 99 250 145 105 0.42 intergenic LINC00221 AU 0.122655 0.2209 0.3983 Uncertain 14_107048723_A->C 14 107048723 107048723 A C snp 2048.77 0/1 99 250 159 91 0.36 intergenic LINC00221 AU 0.00139776 0.003 0.0044 0.0290 Uncertain 14_107048747_G->A 14 107048747 107048747 G A snp 1199.77 0/1 99 249 186 63 0.25 intergenic LINC00221 AU 0.0039 0.0273 Uncertain 14_107048749_C->G 14 107048749 107048749 C G snp 1409.77 0/1 99 248 187 61 0.25 intergenic LINC00221 AU 0.162249 0.2257 0.3983 Uncertain 14_107048765_T->C 14 107048765 107048765 T C snp 734.77 0/1 99 250 203 47 0.19 intergenic LINC00221 AU 0.0041 0.0280 Uncertain 14_107048786_G->A 14 107048786 107048786 G A snp 377.77 0/1 99 250 214 36 0.14 intergenic LINC00221 AU 0.00938498 0.0208 0.0054 0.0357 Uncertain 14_107048885_C->T 14 107048885 107048885 C T snp 1612.77 0/1 99 227 149 78 0.34 intergenic LINC00221 AU 0.3246 0.3744 Uncertain 14_107048929_T->C 14 107048929 107048929 T C snp 2283.77 0/1 99 155 59 96 0.62 intergenic LINC00221 AU 0.417532 0.5109 0.3325 0.5794 Uncertain 14_107048939_T->C 14 107048939 107048939 T C snp 722.77 0/1 99 118 79 39 0.33 intergenic LINC00221 AU 0.184904 0.1389 0.0497 0.0819 Uncertain 14_107048988_A->G 14 107048988 107048988 A G snp 94.77 0/1 99 37 30 7 0.19 intergenic LINC00221 AU 0.0053 0.0024 Uncertain 14_107048996_T->C 14 107048996 107048996 T C snp 43.77 0/1 72 27 22 5 0.19 intergenic LINC00221 AU 0.0271 0.0206 Uncertain 14_107078790_C->T 14 107078790 107078790 C T snp 2279.77 0/1 99 249 147 102 0.41 intergenic LINC00221 AU 0.833466 0.8046 0.839604 0.8451 0.8215 Uncertain 14_107082871_-->TGC 14 107082871 107082871 - TGC indel 2205.73 1/1 99 38 0 38 1.0 intergenic rs144729059 LINC00221 AU 0.944489 0.9425 Uncertain 14_107082880_T->G 14 107082880 107082880 T G snp 470.77 1/1 36 16 0 16 1.0 intergenic LINC00221 AU Uncertain 14_107082881_-->TAG 14 107082881 107082881 - TAG indel 650.73 1/1 48 16 0 16 1.0 intergenic LINC00221 AU Uncertain 14_107082882_G->A 14 107082882 107082882 G A snp 470.77 1/1 36 16 0 16 1.0 intergenic LINC00221 AU Uncertain 14_107082889_-->TTT 14 107082889 107082889 - TTT indel 915.73 1/1 51 17 0 17 1.0 intergenic rs4043174 LINC00221 AU 1 1 Uncertain 14_107082897_T->A 14 107082897 107082897 T A snp 609.77 1/1 45 20 0 20 1.0 intergenic LINC00221 AU 1 1 Uncertain 14_107113851_C->T 14 107113851 107113851 C T snp 3074.77 0/1 99 250 127 123 0.49 intergenic LINC00221 AU 0.573882 0.5337 0.407372 0.3923 0.4827 Uncertain 14_107113999_G->T 14 107113999 107113999 G T snp 184.77 0/1 99 223 182 41 0.18 intergenic LINC00221 AU 0.0023 0.0218 Uncertain 14_107114009_T->C 14 107114009 107114009 T C snp 2953.77 0/1 99 233 103 130 0.56 intergenic LINC00221 AU 0.629393 0.5337 0.5524 0.6138 Uncertain 14_107114022_C->A 14 107114022 107114022 C A snp 305.77 0/1 99 234 183 51 0.22 intergenic LINC00221 AU 0.0028 0.0222 Uncertain 14_107114083_A->T 14 107114083 107114083 A T snp 319.77 0/1 99 250 198 52 0.21 intergenic LINC00221 AU 0.0175719 0.0427 0.001234 0.0171 0.0863 Uncertain 14_107114107_A->T 14 107114107 107114107 A T snp 152.77 0/1 99 249 217 32 0.13 intergenic LINC00221 AU 0.00658946 0.0218 0.0130 0.0799 Uncertain 14_107114109_G->A 14 107114109 107114109 G A snp 147.77 0/1 99 250 221 29 0.12 intergenic LINC00221 AU 0.00658946 0.0218 0.0130 0.0797 Uncertain 14_107114126_A->T 14 107114126 107114126 A T snp 51.77 0/1 80 244 221 23 0.09 intergenic LINC00221 AU 9.109e-05 0.0008 Uncertain 14_107114128_C->T 14 107114128 107114128 C T snp 39.77 0/1 68 242 221 21 0.09 intergenic LINC00221 AU 4.14e-05 0.0005 Uncertain 14_107114193_A->G 14 107114193 107114193 A G snp 1938.77 0/1 99 159 78 81 0.51 intergenic LINC00221 AU 0.584265 0.5337 0.473878 0.4402 0.5492 Uncertain 14_107131164_A->C 14 107131164 107131164 A C snp 821.77 0/1 99 218 161 57 0.26 intergenic LINC00221 AU 0.425719 0.4315 0.3850 0.4505 Uncertain 14_107170005_T->C 14 107170005 107170005 T C snp 3867.77 0/1 99 250 109 141 0.56 intergenic LINC00221 AU 0.496805 0.4891 0.532058 0.4755 0.4333 Uncertain 14_107170055_G->A 14 107170055 107170055 G A snp 2562.77 0/1 99 249 146 103 0.41 intergenic LINC00221 AU 0.363709 0.4369 0.5704 Uncertain 14_107170062_A->G 14 107170062 107170062 A G snp 2475.77 0/1 99 247 146 101 0.41 intergenic LINC00221 AU 0.446086 0.4861 0.300670 0.4246 0.5386 Uncertain 14_107170077_C->T 14 107170077 107170077 C T snp 2278.77 0/1 99 248 153 95 0.38 intergenic LINC00221 AU 0.419928 0.4752 0.301549 0.4012 0.5278 Uncertain 14_107170128_C->T 14 107170128 107170128 C T snp 1840.77 0/1 99 242 167 75 0.31 intergenic LINC00221 AU 0.174854 0.1889 0.1593 Uncertain 14_107170207_C->T 14 107170207 107170207 C T snp 859.77 0/1 99 140 99 41 0.29 intergenic LINC00221 AU 0.167732 0.1677 0.174654 0.1875 0.1548 Uncertain 14_107170219_C->G 14 107170219 107170219 C G snp 850.77 0/1 99 136 97 39 0.29 intergenic LINC00221 AU 0.627995 0.504 0.548480 0.4912 0.5575 Uncertain 14_107170398_C->T 14 107170398 107170398 C T snp 1475.77 1/1 99 50 0 50 1.0 intergenic LINC00221 AU 0.84405 0.998 0.745599 0.7973 0.9991 Uncertain 14_107170410_G->C 14 107170410 107170410 G C snp 585.77 0/1 99 43 20 23 0.53 intergenic LINC00221 AU 0.554113 0.5069 0.459732 0.4732 0.5645 Uncertain 14_107178748_A->G 14 107178748 107178748 A G snp 210.84 1/1 18 6 0 6 1.0 intergenic LINC00221 AU Uncertain 14_107178770_A->G 14 107178770 107178770 A G snp 478.77 1/1 36 12 0 12 1.0 intergenic LINC00221 AU 0.998802 1 0.9995 0.9999 Uncertain 14_107178773_A->G 14 107178773 107178773 A G snp 473.77 1/1 36 12 0 12 1.0 intergenic LINC00221 AU 0.998802 1 0.9995 0.9998 Uncertain 14_107178775_-->G 14 107178775 107178775 - G indel 507.73 1/1 36 12 0 12 1.0 intergenic rs111549351 LINC00221 AU 0.998802 1 0.9995 1 Uncertain 14_107178795_A->G 14 107178795 107178795 A G snp 1186.77 1/1 87 34 0 34 1.0 intergenic LINC00221 AU 0.9996 0.9999 Uncertain 14_107178832_A->G 14 107178832 107178832 A G snp 2551.77 1/1 99 82 0 82 1.0 intergenic LINC00221 AU 0.999675 0.9984 0.9987 Uncertain 14_107178941_T->A 14 107178941 107178941 T A snp 2046.77 0/1 99 215 123 92 0.43 intergenic LINC00221 AU 0.3076 0.1556 Uncertain 14_107178965_A->C 14 107178965 107178965 A C snp 1801.77 0/1 99 215 138 77 0.36 intergenic LINC00221 AU 0.535543 0.4196 0.626969 0.5874 0.5635 Uncertain 14_107179013_A->G 14 107179013 107179013 A G snp 1223.77 0/1 99 171 115 56 0.33 intergenic LINC00221 AU 0.00239617 0.004 0.123858 0.1299 0.1518 Uncertain 14_107179017_A->G 14 107179017 107179017 A G snp 1260.77 0/1 99 169 114 55 0.33 intergenic LINC00221 AU 0.0870607 0.0565 0.385923 0.3240 0.1998 Uncertain 14_107179106_C->T 14 107179106 107179106 C T snp 1343.77 0/1 99 127 77 50 0.39 intergenic LINC00221 AU 0.373843 0.3256 0.2006 Uncertain 14_107198866_T->G 14 107198866 107198866 T G snp 1077.77 1/1 81 32 0 32 1.0 intergenic LINC00221 AU 1 1 Uncertain 14_107198874_A->G 14 107198874 107198874 A G snp 580.77 0/1 99 37 17 20 0.54 intergenic LINC00221 AU 0.153155 0.2093 Uncertain 14_107198901_C->T 14 107198901 107198901 C T snp 924.77 0/1 99 59 28 31 0.53 intergenic LINC00221 AU 0.153155 0.2083 0.139238 0.1464 0.1911 Uncertain 14_107211211_G->A 14 107211211 107211211 G A snp 2426.77 0/1 99 193 92 101 0.52 intergenic LINC00221 AU 0.506989 0.5079 0.414366 0.4593 0.5661 Uncertain 14_107282752_A->G 14 107282752 107282752 A G snp 63.77 0/1 92 139 129 10 0.07 intergenic rs759354959 MIR5195 AU 6.933e-05 0.0001 Uncertain 14_107282756_C->T 14 107282756 107282756 C T snp 67.77 0/1 96 139 128 11 0.08 intergenic rs769620201 MIR5195 AU 7.802e-05 0.0001 Uncertain 14_107282785_T->C 14 107282785 107282785 T C snp 699.77 0/1 99 180 147 33 0.18 intergenic rs745809825 MIR5195 AU 0.0081 0.0027 Uncertain 14_107282786_G->T 14 107282786 107282786 G T snp 703.77 0/1 99 180 146 34 0.19 intergenic rs752911925 MIR5195 AU 0.0081 0.0027 Uncertain 14_107282791_A->C 14 107282791 107282791 A C snp 802.77 0/1 99 188 150 38 0.2 intergenic rs778208596 MIR5195 AU 0.0081 0.0027 Uncertain 14_107282809_T->C 14 107282809 107282809 T C snp 1079.77 0/1 99 207 159 48 0.23 intergenic rs201928713 MIR5195 AU 0.0129 0.0061 Uncertain 14_107282813_C->A 14 107282813 107282813 C A snp 1047.77 0/1 99 215 167 48 0.22 intergenic rs199801132 MIR5195 AU 0.0130 0.0063 Uncertain 14_107282814_A->G 14 107282814 107282814 A G snp 1014.77 0/1 99 216 168 48 0.22 intergenic rs200749603 MIR5195 AU 0.0131 0.0064 Uncertain 14_107282846_G->A 14 107282846 107282846 G A snp 1889.77 0/1 99 250 164 86 0.34 intergenic rs200859769 MIR5195 AU 0.0346 0.0547 Uncertain 14_107282852_T->C 14 107282852 107282852 T C snp 2016.77 0/1 99 250 158 92 0.37 intergenic rs201336503 MIR5195 AU 0.0345 0.0544 Uncertain 14_107282859_G->A 14 107282859 107282859 G A snp 1900.77 0/1 99 250 162 88 0.35 intergenic rs201095197 MIR5195 AU 0.0348 0.0563 Uncertain 14_107282872_T->A 14 107282872 107282872 T A snp 1907.77 0/1 99 250 165 85 0.34 intergenic rs61741319 MIR5195 AU 0.00359425 0.001 0.0367 0.0623 Uncertain 14_107282909_T->C 14 107282909 107282909 T C snp 1730.77 0/1 99 249 171 78 0.31 intergenic rs202202987 MIR5195 AU 0.3510 0.4156 Uncertain 14_107282926_A->T 14 107282926 107282926 A T snp 1699.77 0/1 99 249 171 78 0.31 intergenic rs149038822 MIR5195 AU 0.3903 0.4382 Uncertain 14_107282935_A->T 14 107282935 107282935 A T snp 1701.77 0/1 99 248 170 78 0.31 intergenic rs201762529 MIR5195 AU 0.3896 0.4379 Uncertain 14_107282973_G->C 14 107282973 107282973 G C snp 1317.77 0/1 99 250 193 57 0.23 intergenic rs200848671 MIR5195 AU 0.1000 0.1615 Uncertain 14_107282988_C->G 14 107282988 107282988 C G snp 1118.77 0/1 99 249 200 49 0.2 intergenic rs767608603 MIR5195 AU 0.0096 0.0178 Uncertain 14_107282994_G->C 14 107282994 107282994 G C snp 509.77 0/1 99 229 200 29 0.13 intergenic rs753716841 MIR5195 AU 0.0027 0.0062 Uncertain 14_107282996_G->A 14 107282996 107282996 G A snp 433.77 0/1 99 230 203 27 0.12 intergenic rs754877692 MIR5195 AU 0.0024 0.0052 Uncertain 14_107283002_A->G 14 107283002 107283002 A G snp 308.77 0/1 99 224 200 24 0.11 intergenic rs758264243 MIR5195 AU 0.0015 0.0026 Uncertain 14_107283003_C->G 14 107283003 107283003 C G snp 381.77 0/1 99 222 197 25 0.11 intergenic rs777539402 MIR5195 AU 0.0016 0.0027 Uncertain 14_107283008_A->T 14 107283008 107283008 A T snp 354.77 0/1 99 215 189 26 0.12 intergenic rs113134619 MIR5195 AU 0.0011 0.0015 Uncertain 14_107283026_G->A 14 107283026 107283026 G A snp 135.77 0/1 99 185 167 18 0.1 intergenic rs772516650 MIR5195 AU 7.454e-05 0.0002 Uncertain 15_20170150_C->T 15 20170150 20170150 C T snp 4666.77 1/1 99 154 0 154 1.0 intergenic rs10431885 NONE UN 0.245008 0.4117 0.190500 0.2169 0.3763 Uncertain 15_20229964_C->T 15 20229964 20229964 C T snp 217.77 0/1 56 104 61 43 0.41 intergenic rs62006928 NONE UN 0.257388 0.3909 Uncertain 15_20230038_A->G 15 20230038 20230038 A G snp 30.77 0/1 59 38 32 6 0.16 intergenic rs28420583 NONE UN Uncertain 15_20279507_G->A 15 20279507 20279507 G A snp 375.77 0/1 99 29 15 14 0.48 intergenic rs7170554 NONE UN Uncertain 15_20433755_G->A 15 20433755 20433755 G A snp 2063.77 1/1 99 60 0 60 1.0 intergenic rs4114043 NONE UN Uncertain 15_20434090_G->T 15 20434090 20434090 G T snp 929.77 0/1 99 249 202 47 0.19 intergenic rs4401027 NONE UN 0.136981 0.256 Uncertain 15_20434106_C->T 15 20434106 20434106 C T snp 693.77 0/1 99 243 199 44 0.18 intergenic rs372650871 NONE UN Uncertain 15_20444637_G->A 15 20444637 20444637 G A snp 428.77 0/1 99 250 218 32 0.13 intergenic rs200452405 NONE UN Uncertain 15_20444746_G->A 15 20444746 20444746 G A snp 301.77 0/1 99 249 218 31 0.12 intergenic rs199520718 NONE UN Uncertain 15_20444794_C->T 15 20444794 20444794 C T snp 1220.77 0/1 99 238 178 60 0.25 intergenic rs2722084 NONE UN Uncertain 15_20444902_C->T 15 20444902 20444902 C T snp 41.77 0/1 70 37 31 6 0.16 intergenic rs2722085 NONE UN Uncertain 15_20445993_C->T 15 20445993 20445993 C T snp 120.77 0/1 99 250 223 27 0.11 intergenic rs116783966 NONE UN Uncertain 15_20446043_T->A 15 20446043 20446043 T A snp 3962.77 0/1 99 250 112 138 0.55 intergenic rs1823751 NONE UN 0.592851 0.627 Uncertain 15_20446144_C->T 15 20446144 20446144 C T snp 158.77 0/1 99 181 160 21 0.12 intergenic NONE UN Uncertain 15_20447987_A->G 15 20447987 20447987 A G snp 268.77 0/1 99 42 21 21 0.5 intergenic rs8024775 NONE UN Uncertain 15_20448056_A->G 15 20448056 20448056 A G snp 1850.77 0/1 99 242 137 105 0.43 intergenic rs8024950 NONE UN 0.521565 0.4613 Uncertain 15_20448077_T->C 15 20448077 20448077 T C snp 7308.77 1/1 99 248 0 248 1.0 intergenic rs3963874 NONE UN 0.606829 0.5784 Uncertain 15_20448164_T->C 15 20448164 20448164 T C snp 2499.77 0/1 99 250 152 98 0.39 intergenic rs55697731 NONE UN Uncertain 15_20450014_G->A 15 20450014 20450014 G A snp 479.77 0/1 66 20 3 17 0.85 intergenic rs2466363 NONE UN Uncertain 15_20450100_G->A 15 20450100 20450100 G A snp 421.77 0/1 99 250 219 31 0.12 intergenic rs777848803 NONE UN Uncertain 15_20450242_G->C 15 20450242 20450242 G C snp 4662.77 0/1 99 250 96 154 0.62 intergenic rs2444187 NONE UN 0.422125 0.4256 Uncertain 15_20450376_G->A 15 20450376 20450376 G A snp 1521.77 0/1 99 232 172 60 0.26 intergenic rs59373601 NONE UN Uncertain 15_20450433_G->T 15 20450433 20450433 G T snp 971.77 0/1 99 148 109 39 0.26 intergenic rs60793038 NONE UN Uncertain 15_20453825_A->G 15 20453825 20453825 A G snp 82.77 0/1 99 46 39 7 0.15 intergenic rs7167849 NONE UN Uncertain 15_20453880_A->C 15 20453880 20453880 A C snp 152.77 0/1 99 80 68 12 0.15 intergenic rs11248730 NONE UN Uncertain 15_20453896_G->C 15 20453896 20453896 G C snp 1052.77 0/1 99 85 44 41 0.48 intergenic rs2601517 NONE UN 0.556909 0.5298 Uncertain 15_20453900_A->G 15 20453900 20453900 A G snp 134.77 0/1 99 86 74 12 0.14 intergenic rs7167896 NONE UN 0.0654952 0.0327 Uncertain 15_20453913_C->T 15 20453913 20453913 C T snp 840.77 0/1 99 90 53 37 0.41 intergenic rs2601516 NONE UN Uncertain 15_20453914_A->G 15 20453914 20453914 A G snp 222.77 0/1 99 92 79 13 0.14 intergenic rs7167903 NONE UN Uncertain 15_20453932_T->G 15 20453932 20453932 T G snp 985.77 0/1 99 111 65 46 0.41 intergenic rs60565633 NONE UN 0.122604 0.2381 Uncertain 15_20453992_T->C 15 20453992 20453992 T C snp 892.77 0/1 99 139 94 45 0.32 intergenic rs4931912 NONE UN 0.209665 0.1607 Uncertain 15_20454025_A->G 15 20454025 20454025 A G snp 972.77 0/1 99 139 81 58 0.42 intergenic rs4931913 NONE UN Uncertain 15_20454042_A->T 15 20454042 20454042 A T snp 720.77 0/1 99 136 90 46 0.34 intergenic rs7168242 NONE UN Uncertain 15_20454100_T->A 15 20454100 20454100 T A snp 355.77 0/1 99 72 56 16 0.22 intergenic rs12324192 NONE UN Uncertain 15_20454101_T->A 15 20454101 20454101 T A snp 341.77 0/1 99 69 54 15 0.22 intergenic rs12324193 NONE UN Uncertain 15_20454162_C->A 15 20454162 20454162 C A snp 255.77 0/1 99 15 5 10 0.67 intergenic rs4931914 NONE UN Uncertain 15_20456517_T->C 15 20456517 20456517 T C snp 221.77 0/1 99 20 11 9 0.45 intergenic rs12593833 NONE UN Uncertain 15_20456640_A->G 15 20456640 20456640 A G snp 1507.77 0/1 99 134 66 68 0.51 intergenic rs8041606 NONE UN Uncertain 15_20456665_T->A 15 20456665 20456665 T A snp 1763.77 0/1 99 155 76 79 0.51 intergenic rs8026258 NONE UN Uncertain 15_20456673_C->G 15 20456673 20456673 C G snp 1817.77 0/1 99 159 78 81 0.51 intergenic rs8033709 NONE UN Uncertain 15_20456677_G->A 15 20456677 20456677 G A snp 1823.77 0/1 99 162 79 83 0.51 intergenic rs8037872 NONE UN Uncertain 15_20456682_G->C 15 20456682 20456682 G C snp 704.77 0/1 99 172 125 47 0.27 intergenic rs58201907 NONE UN Uncertain 15_20456740_A->G 15 20456740 20456740 A G snp 3988.77 0/1 99 199 29 170 0.85 intergenic rs2954579 NONE UN 0.558307 0.5496 Uncertain 15_20456787_C->T 15 20456787 20456787 C T snp 685.77 0/1 99 147 110 37 0.25 intergenic rs60265308 NONE UN Uncertain 15_20456821_G->A 15 20456821 20456821 G A snp 505.77 0/1 99 97 70 27 0.28 intergenic rs3866620 NONE UN Uncertain 15_20457128_A->C 15 20457128 20457128 A C snp 130.77 0/1 99 44 37 7 0.16 intergenic rs60585083 NONE UN Uncertain 15_20457141_C->T 15 20457141 20457141 C T snp 110.77 0/1 99 65 56 9 0.14 intergenic rs11854768 NONE UN Uncertain 15_20457155_A->C 15 20457155 20457155 A C snp 178.77 0/1 99 88 77 11 0.13 intergenic rs11856094 NONE UN 0.388379 0.3155 Uncertain 15_20457157_C->T 15 20457157 20457157 C T snp 747.77 0/1 99 91 64 27 0.3 intergenic rs11854770 NONE UN 0.515375 0.4881 Uncertain 15_20457244_G->C 15 20457244 20457244 G C snp 1577.77 0/1 99 250 179 71 0.28 intergenic rs2060872 NONE UN Uncertain 15_20457291_T->C 15 20457291 20457291 T C snp 6621.77 0/1 99 250 38 212 0.85 intergenic rs6599891 NONE UN Uncertain 15_20457319_C->A 15 20457319 20457319 C A snp 3121.77 0/1 99 250 139 111 0.44 intergenic rs8038741 NONE UN 0.449681 0.3988 Uncertain 15_20462585_A->G 15 20462585 20462585 A G snp 2470.77 0/1 99 182 86 96 0.53 intergenic rs3901622 NONE UN Uncertain 15_20462603_G->T 15 20462603 20462603 G T snp 730.77 0/1 99 228 185 43 0.19 intergenic rs2880572 NONE UN Uncertain 15_20462690_T->G 15 20462690 20462690 T G snp 5056.77 0/1 99 239 36 203 0.85 intergenic rs6422224 NONE UN Uncertain 15_20462792_T->G 15 20462792 20462792 T G snp 491.77 0/1 99 48 27 21 0.44 intergenic rs62009635 NONE UN 0.36262 0.3065 Uncertain 15_20462794_TTT->- 15 20462794 20462796 TTT - indel 857.73 0/1 99 45 19 26 0.58 intergenic rs77195941 NONE UN 0.36262 0.3065 Uncertain 15_20462828_A->G 15 20462828 20462828 A G snp 155.77 0/1 55 7 2 5 0.71 intergenic rs8039793 NONE UN Uncertain 15_20464736_-->A 15 20464736 20464736 - A indel 292.73 0/1 99 152 88 64 0.42 intergenic rs112424577 NONE UN Uncertain 15_20464811_C->T 15 20464811 20464811 C T snp 1744.77 0/1 99 246 160 86 0.35 intergenic rs4983664 NONE UN Uncertain 15_20464860_G->T 15 20464860 20464860 G T snp 2477.77 0/1 99 211 105 106 0.5 intergenic rs7177447 NONE UN Uncertain 15_20464971_T->G 15 20464971 20464971 T G snp 192.77 0/1 94 10 3 7 0.7 intergenic rs4983840 NONE UN Uncertain 15_20465014_T->C 15 20465014 20465014 T C snp 75.77 0/1 99 17 12 5 0.29 intergenic rs62009640 NONE UN Uncertain 15_20465103_A->C 15 20465103 20465103 A C snp 527.77 0/1 99 35 7 28 0.8 intergenic rs6599901 NONE UN Uncertain 15_20465167_A->T 15 20465167 20465167 A T snp 247.77 0/1 99 21 8 13 0.62 intergenic rs10794632 NONE UN Uncertain 15_20465182_T->A 15 20465182 20465182 T A snp 193.77 0/1 99 13 4 9 0.69 intergenic rs10794633 NONE UN Uncertain 15_20465246_G->A 15 20465246 20465246 G A snp 53.74 1/1 6 3 0 3 1.0 intergenic rs8038116 NONE UN Uncertain 15_20466352_T->C 15 20466352 20466352 T C snp 957.77 0/1 99 77 43 34 0.44 intergenic rs4983837 NONE UN Uncertain 15_20466516_C->T 15 20466516 20466516 C T snp 3126.77 0/1 99 221 57 164 0.74 intergenic rs4983836 NONE UN Uncertain 15_20466546_C->A 15 20466546 20466546 C A snp 476.77 0/1 99 134 100 34 0.25 intergenic rs4931936 NONE UN Uncertain 15_20467004_G->A 15 20467004 20467004 G A snp 279.77 0/1 99 28 18 10 0.36 intergenic rs4983662 NONE UN Uncertain 15_20467075_C->T 15 20467075 20467075 C T snp 101.77 0/1 99 177 162 15 0.08 intergenic rs60364561 NONE UN Uncertain 15_20467100_A->G 15 20467100 20467100 A G snp 2643.77 0/1 99 243 125 118 0.49 intergenic rs4983661 NONE UN Uncertain 15_20467151_C->T 15 20467151 20467151 C T snp 783.77 0/1 99 249 203 46 0.18 intergenic rs4983660 NONE UN Uncertain 15_20467242_C->T 15 20467242 20467242 C T snp 1927.77 0/1 99 216 131 85 0.39 intergenic rs59808209 NONE UN Uncertain 15_20467431_T->A 15 20467431 20467431 T A snp 34.77 0/1 63 7 5 2 0.29 intergenic rs2924238 NONE UN Uncertain 15_20468050_A->G 15 20468050 20468050 A G snp 2905.77 0/1 99 220 107 113 0.51 intergenic rs4983831 NONE UN Uncertain 15_20476857_G->A 15 20476857 20476857 G A snp 204.77 0/1 99 127 111 16 0.13 intergenic rs4038411 NONE UN Uncertain 15_20476942_C->T 15 20476942 20476942 C T snp 2623.77 0/1 99 249 155 94 0.38 intergenic rs4983659 NONE UN Uncertain 15_20477005_G->C 15 20477005 20477005 G C snp 2866.77 0/1 99 250 156 94 0.38 intergenic rs4248783 NONE UN Uncertain 15_20477090_T->C 15 20477090 20477090 T C snp 1637.77 0/1 99 245 185 60 0.24 intergenic rs4931940 NONE UN Uncertain 15_20481775_G->C 15 20481775 20481775 G C snp 78.77 0/1 63 5 2 3 0.6 intergenic rs2601541 NONE UN Uncertain 15_20481818_A->- 15 20481818 20481818 A - indel 467.73 0/1 99 35 20 15 0.43 intergenic rs61468854 NONE UN Uncertain 15_20481882_G->T 15 20481882 20481882 G T snp 341.77 0/1 99 130 106 24 0.18 intergenic rs11248739 NONE UN Uncertain 15_20482021_C->G 15 20482021 20482021 C G snp 2326.77 0/1 99 250 160 90 0.36 intergenic rs28602347 NONE UN Uncertain 15_20482083_G->A 15 20482083 20482083 G A snp 1689.77 0/1 99 242 167 75 0.31 intergenic rs28576026 NONE UN Uncertain 15_20482094_C->T 15 20482094 20482094 C T snp 1472.77 0/1 99 242 176 66 0.27 intergenic rs1869199 NONE UN Uncertain 15_20482115_A->G 15 20482115 20482115 A G snp 1811.77 0/1 99 230 155 75 0.33 intergenic rs28702675 NONE UN Uncertain 15_20482142_A->C 15 20482142 20482142 A C snp 1086.77 0/1 99 162 115 47 0.29 intergenic rs60748331 NONE UN Uncertain 15_20588563_A->G 15 20588563 20588563 A G snp 549.77 0/1 99 160 128 32 0.2 intergenic rs2291972 CHEK2P2 AU 0.304395 0.3720 0.3883 Uncertain 15_20588685_A->G 15 20588685 20588685 A G snp 766.77 0/1 99 250 202 48 0.19 intergenic rs74591860 CHEK2P2 AU 0.006773 0.0206 0.0881 Uncertain 15_20613928_G->A 15 20613928 20613928 G A snp 341.77 0/1 99 250 222 28 0.11 ncRNA_exonic rs373703433 HERC2P3 AU 0.0845 0.04 Uncertain 15_20614087_G->A 15 20614087 20614087 G A snp 345.77 0/1 99 140 116 24 0.17 ncRNA_intronic rs57902346 HERC2P3 AU Uncertain 15_20874799_A->C 15 20874799 20874799 A C snp 362.77 0/1 99 45 31 14 0.31 ncRNA_exonic rs11633771 NBEAP1 AU 0.4303 0.4626 Uncertain 15_20874819_A->G 15 20874819 20874819 A G snp 250.77 0/1 99 145 127 18 0.12 ncRNA_exonic rs28390306 NBEAP1 AU 0.0956 0.0803 Uncertain 15_20874846_G->A 15 20874846 20874846 G A snp 1507.77 0/1 99 249 185 64 0.26 ncRNA_exonic rs7497024 NBEAP1 AU 0.2497 0.2472 Uncertain 15_20874897_A->G 15 20874897 20874897 A G snp 4606.77 0/1 99 250 93 157 0.63 ncRNA_exonic rs7497658 NBEAP1 AU 0.5971 0.5508 Uncertain 15_20874927_T->A 15 20874927 20874927 T A snp 301.77 0/1 99 250 225 25 0.1 ncRNA_exonic rs62000629 NBEAP1 AU 0.2654 0.3698 Uncertain 15_20875055_C->G 15 20875055 20875055 C G snp 779.77 0/1 99 171 130 41 0.24 ncRNA_intronic rs7496378 NBEAP1 AU Uncertain 15_20875100_A->G 15 20875100 20875100 A G snp 335.77 0/1 99 59 42 17 0.29 ncRNA_intronic rs7497715 NBEAP1 AU Uncertain 15_20875126_A->G 15 20875126 20875126 A G snp 80.77 0/1 99 22 18 4 0.18 ncRNA_intronic rs7497743 NBEAP1 AU Uncertain 15_20876423_A->G 15 20876423 20876423 A G snp 330.77 0/1 99 250 216 34 0.14 ncRNA_intronic rs10902996 NBEAP1 AU 0.315096 0.3681 0.3470 0.3865 Uncertain 15_20876515_A->G 15 20876515 20876515 A G snp 4643.77 0/1 99 249 89 160 0.64 ncRNA_exonic rs6422240 NBEAP1 AU 0.5984 0.5516 Uncertain 15_21145503_G->T 15 21145503 21145503 G T snp 396.28 0/1 9 18 2 16 0.89 upstream rs2605992 LINC01193 AU Uncertain 15_21145789_C->T 15 21145789 21145789 C T snp 869.77 0/1 99 184 142 42 0.23 ncRNA_exonic rs7181958 LINC01193 AU Uncertain 15_21145805_A->G 15 21145805 21145805 A G snp 907.77 0/1 99 162 121 41 0.25 ncRNA_exonic rs7182586 LINC01193 AU Uncertain 15_21145835_C->T 15 21145835 21145835 C T snp 172.77 0/1 99 57 45 12 0.21 ncRNA_exonic rs112258273 LINC01193 AU Uncertain 15_22156973_C->T 15 22156973 22156973 C T snp 1008.77 1/1 75 33 0 33 1.0 downstream rs138078464 MIR5701-1 AU 0.0375399 0.1171 Uncertain 15_22318963_A->T 15 22318963 22318963 A T snp 8530.77 1/1 99 250 0 250 1.0 ncRNA_exonic rs1429506 LOC101927079 AU 0.751198 0.8323 Uncertain 15_22319166_G->T 15 22319166 22319166 G T snp 916.77 0/1 99 250 203 47 0.19 ncRNA_intronic rs1429505 LOC101927079 AU Uncertain 15_22319174_T->C 15 22319174 22319174 T C snp 4482.77 0/1 99 250 100 150 0.6 ncRNA_intronic rs6602966 LOC101927079 AU Uncertain 15_22319253_A->G 15 22319253 22319253 A G snp 4285.77 0/1 99 250 108 142 0.57 ncRNA_intronic rs6602967 LOC101927079 AU 0.295727 0.3433 Uncertain 15_22319295_T->C 15 22319295 22319295 T C snp 2693.77 0/1 99 250 144 106 0.42 ncRNA_intronic rs4779264 LOC101927079 AU Uncertain 15_22319389_T->A 15 22319389 22319389 T A snp 4491.77 0/1 99 250 105 145 0.58 ncRNA_intronic rs8025521 LOC101927079 AU Uncertain 15_22319410_G->A 15 22319410 22319410 G A snp 4272.77 0/1 99 250 101 149 0.6 ncRNA_intronic rs8029027 LOC101927079 AU Uncertain 15_22319445_G->A 15 22319445 22319445 G A snp 4040.77 0/1 99 250 120 130 0.52 ncRNA_intronic rs6602968 LOC101927079 AU Uncertain 15_22332751_T->C 15 22332751 22332751 T C snp 6143.77 0/1 99 249 51 198 0.8 ncRNA_exonic rs930109 LOC727924 AU 0.865615 0.8105 Uncertain 15_22332826_C->T 15 22332826 22332826 C T snp 1482.77 0/1 99 250 191 59 0.24 ncRNA_intronic rs113540685 LOC101927079 AU 0.0607029 0.1577 Uncertain 15_22332859_G->T 15 22332859 22332859 G T snp 889.77 0/1 99 250 202 48 0.19 ncRNA_intronic rs62004745 LOC101927079 AU Uncertain 15_22333122_T->G 15 22333122 22333122 T G snp 595.77 0/1 99 166 136 30 0.18 ncRNA_intronic rs117042563 LOC101927079 AU 0.0617013 0.1577 Uncertain 15_22344871_A->G 15 22344871 22344871 A G snp 1226.77 0/1 99 249 172 77 0.31 ncRNA_intronic rs28571003 LOC101927079 AU Uncertain 15_22344879_C->G 15 22344879 22344879 C G snp 5456.77 1/1 99 250 0 250 1.0 ncRNA_intronic rs1366870 LOC101927079 AU Uncertain 15_22344951_T->C 15 22344951 22344951 T C snp 6096.77 1/1 99 250 1 249 1.0 ncRNA_intronic rs1366871 LOC101927079 AU Uncertain 15_22345038_T->C 15 22345038 22345038 T C snp 493.77 0/1 99 250 190 60 0.24 ncRNA_intronic rs1429471 LOC101927079 AU Uncertain 15_22345097_C->T 15 22345097 22345097 C T snp 995.77 0/1 99 250 199 51 0.2 ncRNA_intronic rs12440831 LOC101927079 AU Uncertain 15_22345158_T->C 15 22345158 22345158 T C snp 2836.77 0/1 99 250 143 107 0.43 ncRNA_intronic rs1529528 LOC101927079 AU Uncertain 15_22345306_A->C 15 22345306 22345306 A C snp 516.77 0/1 99 61 43 18 0.3 ncRNA_intronic rs12438744 LOC101927079 AU Uncertain 15_22368855_T->C 15 22368855 22368855 T C snp 781.77 0/1 99 250 210 40 0.16 exonic rs75967710 OR4M2 AU nonsynonymous SNV NM_001004719 exon1 c.T280C p.F94L 0.012686 0.0346 0.1808 0.15 T 1 N -0.913 T 0.779 T 0.23 P Pathogenic 15_22368862_G->A 15 22368862 22368862 G A snp 4206.77 0/1 99 250 115 135 0.54 exonic rs1835183 OR4M2 AU nonsynonymous SNV NM_001004719 exon1 c.G287A p.G96E 0.559050 0.6277 0.5643 0.04 T 0.0 P -1.046 T 0.97 D 0.735 D Pathogenic 15_22368905_G->A 15 22368905 22368905 G A snp 2755.77 0/1 99 248 158 90 0.36 exonic rs1835182 OR4M2 AU synonymous SNV NM_001004719 exon1 c.G330A p.S110S 0.548439 0.6097 0.4963 Uncertain 15_22368957_C->T 15 22368957 22368957 C T snp 1108.77 0/1 99 250 202 48 0.19 exonic rs78256866 OR4M2 AU stopgain NM_001004719 exon1 c.C382T p.R128X 0.0505192 0.1478 0.018453 0.0325 0.1538 0.27 T 1 D ID=CM134379;DIS=Autism spectrum disorder;TAG=DM?;PUB=23352160 DM? Pathogenic 15_22369132_G->A 15 22369132 22369132 G A snp 657.77 0/1 99 250 209 41 0.16 exonic rs112370472 OR4M2 AU nonsynonymous SNV NM_001004719 exon1 c.G557A p.R186Q 0.013268 0.0323 0.1519 0.03 T 0.982 N -0.965 T 0.027 T 0.025 T Pathogenic 15_22369179_A->T 15 22369179 22369179 A T snp 704.77 0/1 99 250 210 40 0.16 exonic rs79101657 OR4M2 AU nonsynonymous SNV NM_001004719 exon1 c.A604T p.S202C 0.017300 0.0323 0.1521 0 D 0.587 D -0.364 T 0.999 D 0.981 D Pathogenic 15_22369248_T->C 15 22369248 22369248 T C snp 8682.77 1/1 99 250 0 250 1.0 exonic rs491208 OR4M2 AU nonsynonymous SNV NM_001004719 exon1 c.T673C p.F225L 0.9050 0.9535 1 T 0.0 P -0.972 T 0.0 T 0.0 T Pathogenic 15_22369373_G->A 15 22369373 22369373 G A snp 1100.77 0/1 99 250 193 57 0.23 exonic rs10048049 OR4M2 AU synonymous SNV NM_001004719 exon1 c.G798A p.S266S 0.016992 0.0387 0.0881 Uncertain 15_22382655_A->C 15 22382655 22382655 A C snp 2438.77 0/1 99 215 125 90 0.42 exonic rs535034 OR4N4 AU nonsynonymous SNV NM_001005241 exon1 c.A183C p.L61F 0.2157 0.1774 1 T 0.000 P -1.043 T 0.0 T 0.0 T Pathogenic 15_22382704_G->C 15 22382704 22382704 G C snp 1218.77 0/1 99 152 97 55 0.36 exonic rs62006708 OR4N4 AU nonsynonymous SNV NM_001005241 exon1 c.G232C p.A78P 0.119945 0.2008 0.1900 0 D 0.107 P -1.058 T 0.005 T 0.018 T Pathogenic 15_22382728_C->T 15 22382728 22382728 C T snp 1326.77 0/1 99 157 108 49 0.31 exonic rs2808136 OR4N4 AU nonsynonymous SNV NM_001005241 exon1 c.C256T p.L86F 0.2251 0.1928 0.15 T 0.001 P -0.971 T 0.019 T 0.02 T Pathogenic 15_22382739_A->G 15 22382739 22382739 A G snp 4202.77 1/1 99 162 0 162 1.0 exonic rs2671839 OR4N4 AU synonymous SNV NM_001005241 exon1 c.A267G p.K89K 0.996406 1 0.993996 0.9979 0.9997 Uncertain 15_22382821_G->C 15 22382821 22382821 G C snp 2141.77 0/1 99 250 162 88 0.35 exonic rs12438969 OR4N4 AU nonsynonymous SNV NM_001005241 exon1 c.G349C p.V117L 0.2410 0.2078 0.14 T 0.0 P -0.892 T 0.989 D 0.677 D Pathogenic 15_22382828_C->A 15 22382828 22382828 C A snp 785.77 0/1 99 250 199 51 0.2 exonic rs62006709 OR4N4 AU nonsynonymous SNV NM_001005241 exon1 c.C356A p.A119D 0.2045 0.0999 0 D 0.980 P -0.969 T 1.0 D 1.0 D Pathogenic 15_22382897_A->G 15 22382897 22382897 A G snp 2631.77 0/1 99 250 148 102 0.41 exonic rs62006710 OR4N4 AU nonsynonymous SNV NM_001005241 exon1 c.A425G p.Y142C 0.186735 0.2190 0.1996 0.18 T 0.0 P -0.998 T 0.001 T 0.008 T Pathogenic 15_22383064_C->A 15 22383064 22383064 C A snp 1221.77 0/1 99 167 119 48 0.29 exonic rs12441468 OR4N4 AU nonsynonymous SNV NM_001005241 exon1 c.C592A p.L198I 0.420327 0.4127 0.2412 0.205 0.09 T 0.0 P -1.074 T 0.932 T 0.859 D Pathogenic 15_22383066_A->G 15 22383066 22383066 A G snp 2403.77 0/1 99 169 80 89 0.53 exonic rs559754 OR4N4 AU synonymous SNV NM_001005241 exon1 c.A594G p.L198L 0.420327 0.4127 0.6770 0.5996 Uncertain 15_22383189_G->A 15 22383189 22383189 G A snp 828.77 0/1 99 250 199 51 0.2 exonic rs1820851 OR4N4 AU synonymous SNV NM_001005241 exon1 c.G717A p.T239T 0.429645 0.5020 0.4810 Uncertain 15_22383483_A->- 15 22383483 22383483 A - indel 961.73 0/1 99 95 63 32 0.34 ncRNA_exonic rs3841636 LOC101927079 AU 0.592652 0.619 Uncertain 15_22413700_A->G 15 22413700 22413700 A G snp 2550.77 1/1 99 111 0 111 1.0 ncRNA_exonic rs267612 OR4N3P AU 0.8292 0.9884 Uncertain 15_22413954_C->T 15 22413954 22413954 C T snp 4116.77 0/1 99 237 98 139 0.59 ncRNA_exonic rs1810247 OR4N3P AU 0.2420 0.2959 Uncertain 15_22414005_C->T 15 22414005 22414005 C T snp 4089.77 0/1 99 250 108 142 0.57 ncRNA_exonic rs59278647 OR4N3P AU 0.2417 0.2956 Uncertain 15_22414190_T->C 15 22414190 22414190 T C snp 4510.77 0/1 99 250 105 145 0.58 ncRNA_exonic rs28695837 OR4N3P AU 0.2471 0.3248 Uncertain 15_22414393_-->A 15 22414393 22414393 - A indel 683.73 0/1 99 108 39 69 0.64 ncRNA_exonic rs200221521 OR4N3P AU 0.2421 0.3383 Uncertain 15_22440297_A->G 15 22440297 22440297 A G snp 126.03 1/1 12 4 0 4 1.0 intergenic rs2059928 OR4N3P AU 0.633986 0.6607 Uncertain 15_22440322_A->G 15 22440322 22440322 A G snp 499.77 1/1 39 14 0 14 1.0 intergenic rs9744755 OR4N3P AU Uncertain 15_22440816_A->G 15 22440816 22440816 A G snp 5311.77 0/1 99 249 55 194 0.78 intergenic rs4505267 OR4N3P AU Uncertain 15_22448405_C->T 15 22448405 22448405 C T snp 676.77 0/1 99 249 210 39 0.16 intergenic rs8042576 OR4N3P AU 0.0922524 0.1042 0.0567 0.0926 Uncertain 15_22448406_G->A 15 22448406 22448406 G A snp 1135.77 0/1 99 250 200 50 0.2 intergenic rs113961158 OR4N3P AU 0.0429 0.1516 Uncertain 15_22448436_G->A 15 22448436 22448436 G A snp 2763.77 0/1 99 250 152 98 0.39 intergenic rs62007810 OR4N3P AU 0.2220 0.2414 Uncertain 15_22448456_C->T 15 22448456 22448456 C T snp 1062.77 0/1 99 250 198 52 0.21 intergenic rs74002797 OR4N3P AU 0.0535 0.1186 Uncertain 15_22466126_A->C 15 22466126 22466126 A C snp 9098.77 1/1 99 250 0 250 1.0 intergenic rs1985064 OR4N3P AU 0.50599 0.5119 0.483003 0.4935 0.4953 Uncertain 15_22483137_G->A 15 22483137 22483137 G A snp 2392.77 0/1 99 241 152 89 0.37 intergenic rs4779321 OR4N3P AU 0.134784 0.1746 0.092315 0.0956 0.1700 Uncertain 15_22489807_A->G 15 22489807 22489807 A G snp 105.77 0/1 99 38 31 7 0.18 intergenic rs151126248 OR4N3P AU Uncertain 15_22489820_A->C 15 22489820 22489820 A C snp 130.77 0/1 99 45 37 8 0.18 intergenic OR4N3P AU Uncertain 15_22489821_A->G 15 22489821 22489821 A G snp 133.77 0/1 99 46 38 8 0.17 intergenic OR4N3P AU Uncertain 15_22489826_A->T 15 22489826 22489826 A T snp 130.77 0/1 99 49 41 8 0.16 intergenic OR4N3P AU Uncertain 15_22489842_G->C 15 22489842 22489842 G C snp 118.77 0/1 99 59 50 9 0.15 intergenic rs368258155 OR4N3P AU Uncertain 15_22489847_C->A 15 22489847 22489847 C A snp 145.77 0/1 99 62 52 10 0.16 intergenic rs372456640 OR4N3P AU Uncertain 15_22489900_T->C 15 22489900 22489900 T C snp 301.77 0/1 99 94 75 19 0.2 intergenic rs113115466 OR4N3P AU Uncertain 15_22489921_G->A 15 22489921 22489921 G A snp 281.77 0/1 99 97 79 18 0.19 intergenic rs76846225 OR4N3P AU 0.3665 0.3992 Uncertain 15_22489958_C->T 15 22489958 22489958 C T snp 237.77 0/1 99 89 74 15 0.17 intergenic rs111826301 OR4N3P AU 0.000399361 0.3874 0.4202 Uncertain 15_22489966_A->C 15 22489966 22489966 A C snp 202.77 0/1 99 86 71 15 0.17 intergenic rs72687799 OR4N3P AU 0.3830 0.4186 Uncertain 15_22489988_G->A 15 22489988 22489988 G A snp 241.77 0/1 99 79 65 14 0.18 intergenic rs72687801 OR4N3P AU 0.3631 0.3973 Uncertain 15_22490018_C->T 15 22490018 22490018 C T snp 355.77 0/1 99 60 40 20 0.33 intergenic rs10152312 OR4N3P AU 0.129193 0.1687 0.043678 0.0871 0.1577 Uncertain 15_22490019_T->C 15 22490019 22490019 T C snp 180.77 0/1 99 60 51 9 0.15 intergenic rs112521162 OR4N3P AU 0.240995 0.3681 0.4050 Uncertain 15_22490035_A->G 15 22490035 22490035 A G snp 86.77 0/1 99 37 32 5 0.14 intergenic rs72687802 OR4N3P AU 0.3839 0.4206 Uncertain 15_22513188_T->C 15 22513188 22513188 T C snp 122.77 0/1 30 8 2 6 0.75 intergenic rs28635903 OR4N3P AU 0.2208 0.25 Uncertain 15_22513271_C->T 15 22513271 22513271 C T snp 80.77 0/1 33 6 2 4 0.67 intergenic rs28599926 OR4N3P AU 0.1842 . Uncertain 15_22840279_G->T 15 22840279 22840279 G T snp 1724.77 1/1 99 67 0 67 1.0 exonic rs61744212 TUBGCP5 AU synonymous SNV NM_052903 exon4 c.G345T p.L115L 0.135583 0.4504 0.081040 0.1069 0.4687 Uncertain 15_22845637_-->TATTTTTAAA 15 22845637 22845637 - TATTTTTAAA indel 1004.75 1/1 24 8 0 8 1.0 intronic rs144200387 TUBGCP5 AU NM_052903 exon7 c.12237-124insTATTTTTAAA 0.135583 0.4494 Uncertain 15_22845652_T->C 15 22845652 22845652 T C snp 856.77 1/1 63 29 0 29 1.0 intronic rs71400446 TUBGCP5 AU NM_052903 exon7 c.12237-109T>C 0.133187 0.4494 Uncertain 15_22848151_A->- 15 22848151 22848151 A - indel 40.73 0/1 78 25 16 9 0.36 intronic rs372317024 TUBGCP5 AU NM_052903 exon9 c.14713-86delA Uncertain 15_22855425_C->T 15 22855425 22855425 C T snp 628.77 1/1 48 17 0 17 1.0 intronic rs35571762 TUBGCP5 AU NM_052903 exon13 c.21771+130C>T 0.135583 0.4494 Uncertain 15_22864438_A->G 15 22864438 22864438 A G snp 1209.77 1/1 87 42 0 42 1.0 intronic rs35914296 TUBGCP5 AU NM_052903 exon16 c.30845+69A>G 0.136382 0.4494 Uncertain 15_22869764_A->G 15 22869764 22869764 A G snp 626.77 1/1 48 17 0 17 1.0 intronic rs2289814 TUBGCP5 AU NM_052903 exon21 c.36390-150A>G 0.135583 0.4494 Uncertain 15_22870010_A->G 15 22870010 22870010 A G snp 1303.77 0/1 99 110 56 54 0.49 intronic rs183207835 TUBGCP5 AU NM_052903 exon21 c.36479+7A>G 0.000599042 0.003 0.0001 0.0015 Uncertain 15_22873325_A->G 15 22873325 22873325 A G snp 4824.77 1/1 99 170 0 170 1.0 UTR3 rs1046860 TUBGCP5 AU 0.178914 0.4494 0.130968 Uncertain 15_22926229_G->A 15 22926229 22926229 G A snp 1373.77 0/1 99 138 79 59 0.43 intronic rs2289824 CYFIP1 AU NM_014608 exon3 c.283+164G>A 0.919129 0.88 0.8882 0.8895 Uncertain 15_22926307_A->G 15 22926307 22926307 A G snp 4626.77 1/1 99 177 2 175 0.99 intronic rs7403459 CYFIP1 AU NM_014608 exon3 c.283+242A>G 0.999601 1 Uncertain 15_22929906_A->G 15 22929906 22929906 A G snp 570.77 0/1 99 52 29 23 0.44 intronic rs2305093 CYFIP1 AU NM_014608 exon6 c.4113+11A>G 0.85024 0.874 0.796248 0.7832 0.8734 Uncertain 15_22933967_A->G 15 22933967 22933967 A G snp 104.77 0/1 99 12 8 4 0.33 intronic rs142564471 CYFIP1 AU NM_014608 exon8 c.8094+91A>G 0.00399361 0.0198 Uncertain 15_22940866_C->T 15 22940866 22940866 C T snp 2740.77 0/1 99 231 110 121 0.52 intronic rs45464395 CYFIP1 AU NM_014608 exon11 c.15063+21C>T 0.353634 0.5565 0.262802 0.3090 0.5247 Uncertain 15_22945314_C->T 15 22945314 22945314 C T snp 557.77 1/1 42 18 0 18 1.0 intronic rs8029108 CYFIP1 AU NM_014608 exon12 c.19380+152C>T 0.692492 0.7381 Uncertain 15_22955013_T->G 15 22955013 22955013 T G snp 535.77 1/1 42 15 0 15 1.0 intronic rs2289816 CYFIP1 AU NM_014608 exon15 c.29350-119T>G 0.845847 0.7827 Uncertain 15_22962359_C->T 15 22962359 22962359 C T snp 2089.77 0/1 99 143 58 85 0.59 intronic rs72698053 CYFIP1 AU NM_014608 exon19 c.36549+28C>T 0.138379 0.121 0.131862 0.1050 0.1174 Uncertain 15_22963733_C->T 15 22963733 22963733 C T snp 1227.77 0/1 99 92 46 46 0.5 intronic rs72698056 CYFIP1 AU NM_014608 exon21 c.37972-21C>T 0.0804712 0.121 0.067046 0.0837 0.1173 Uncertain 15_22993170_A->C 15 22993170 22993170 A C snp 216.77 0/1 99 20 10 10 0.5 intronic rs3751568 CYFIP1 AU NM_014608 exon26 c.67373+15A>C 0.178914 0.3542 0.101876 0.0846 0.3559 Uncertain 15_22993214_G->T 15 22993214 22993214 G T snp 59.74 1/1 6 3 0 3 1.0 intronic rs3751569 CYFIP1 AU NM_014608 exon26 c.67373+59G>T 0.157348 0.3502 Uncertain 15_22999941_G->- 15 22999941 22999941 G - indel 599.73 1/1 45 15 0 15 1.0 intronic rs11307802 CYFIP1 AU NM_014608 exon30 c.74313-154delG 0.885184 0.9216 Uncertain 15_23000272_A->G 15 23000272 23000272 A G snp 888.77 0/1 99 77 37 40 0.52 intronic rs999842 CYFIP1 AU NM_014608 exon30 c.74461+29A>G 0.528754 0.6329 0.500692 0.5549 0.6500 Uncertain 15_23006216_CTTT->- 15 23006216 23006219 CTTT - indel 1258.73 0/1 99 77 55 22 0.29 UTR3 rs368460716 NIPA2 AU 0.186901 0.2302 0.197648 0.2439 0.2235 Uncertain 15_23006707_C->A 15 23006707 23006707 C A snp 2600.77 0/1 99 250 136 114 0.46 exonic rs3812922 NIPA2 AU synonymous SNV NM_001184889 exon10 c.G597T p.L199L 0.0628994 0.2262 0.016915 0.0377 0.2226 Uncertain 15_23014349_T->C 15 23014349 23014349 T C snp 377.77 0/1 99 31 15 16 0.52 intronic rs147025774 NIPA2 AU NM_001184888 exon3 c.8217-88T>C 0.000399361 0.002 Uncertain 15_23021238_C->T 15 23021238 23021238 C T snp 695.77 0/1 99 62 30 32 0.52 exonic rs7170838 NIPA2 AU synonymous SNV NM_001184889 exon6 c.G99A p.K33K 0.225639 0.2421 0.180301 0.2074 0.2385 Uncertain 15_23049369_G->A 15 23049369 23049369 G A snp 504.77 0/1 99 40 20 20 0.5 intronic rs12592629 NIPA1 AD NM_001142275 exon1 c.512+29G>A 0.249401 0.1994 0.297406 0.3074 0.2423 Uncertain 15_23052632_T->C 15 23052632 23052632 T C snp 1627.77 1/1 99 62 0 62 1.0 exonic rs11263683 NIPA1 AD synonymous SNV NM_144599 exon4 c.A441G p.T147T 0.704073 0.8026 0.653698 0.7359 0.8141 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000117820.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 15_23059394_C->T 15 23059394 23059394 C T snp 3947.77 1/1 99 149 0 149 1.0 intronic rs1991922 NIPA1 AD NM_001142275 exon3 c.11986-1420C>T 0.943291 0.996 0.9179 1 Uncertain 15_23060625_G->C 15 23060625 23060625 G C snp 56.74 1/1 6 2 0 2 1.0 intronic rs7168401 NIPA1 AD NM_001142275 exon3 c.11986-189G>C 0.946286 0.998 Uncertain 15_23086365_GCC->- 15 23086365 23086367 GCC - indel 1657.73 0/1 99 109 46 63 0.58 exonic rs531550505 NIPA1 AD nonframeshift deletion NM_144599 exon1 c.45_47del p.15_16del 0.061901 0.0139 0.0144 0 ID=COSM1608160;OCCURENCE=1(liver) Uncertain 15_23130701_TAACATTTT->- 15 23130701 23130709 TAACATTTT - indel 1289.73 1/1 33 14 0 14 1.0 intergenic rs201078840 LOC283683 AU 0.16234 0.4504 Uncertain 15_23131745_G->A 15 23131745 23131745 G A snp 999.77 1/1 75 40 0 40 1.0 intergenic rs7181884 LOC283683 AU 0.841254 0.9038 Uncertain 15_23132075_-->A 15 23132075 23132075 - A indel 590.27 0/1 1 41 3 38 0.93 intergenic rs397936657 LOC283683 AU 0.322484 0.6845 Uncertain 15_23138992_G->A 15 23138992 23138992 G A snp 430.77 1/1 36 220 103 117 0.53 intergenic rs202076313 LOC283683 AU Uncertain 15_23140114_C->T 15 23140114 23140114 C T snp 56.74 1/1 6 2 0 2 1.0 intergenic rs8033142 LOC283683 AU 0.877196 0.9325 Uncertain 15_23182267_G->A 15 23182267 23182267 G A snp 6845.77 1/1 99 234 0 234 1.0 intergenic rs12050782 LOC283683 AU 0.507588 0.8125 Uncertain 15_23200581_A->G 15 23200581 23200581 A G snp 239.78 1/1 24 8 0 8 1.0 ncRNA_intronic rs7177562 WHAMMP3 AU 0.453874 0.6121 Uncertain 15_23200698_A->T 15 23200698 23200698 A T snp 2432.77 1/1 99 137 17 120 0.88 ncRNA_exonic rs58552405 WHAMMP3 AU 0.821486 0.8353 Uncertain 15_23259270_A->G 15 23259270 23259270 A G snp 1551.77 1/1 99 71 3 68 0.96 ncRNA_exonic rs200991698 GOLGA8IP AU 0.8125 0.997 0.7728 0.9975 Uncertain 15_23299705_G->A 15 23299705 23299705 G A snp 38.77 0/1 67 9 6 3 0.33 ncRNA_exonic rs115699295 HERC2P2 AU Uncertain 15_23299744_C->T 15 23299744 23299744 C T snp 52.77 0/1 81 35 28 7 0.2 ncRNA_exonic rs200571380 HERC2P2 AU Uncertain 15_23299841_C->G 15 23299841 23299841 C G snp 83.77 0/1 99 131 96 35 0.27 ncRNA_intronic rs200525001 HERC2P2 AU Uncertain 15_23299924_C->T 15 23299924 23299924 C T snp 351.77 0/1 99 171 125 46 0.27 ncRNA_exonic rs201796824 HERC2P2 AU Uncertain 15_23299928_C->T 15 23299928 23299928 C T snp 345.77 0/1 99 175 129 46 0.26 ncRNA_exonic rs200546965 HERC2P2 AU Uncertain 15_23300079_T->G 15 23300079 23300079 T G snp 232.77 0/1 99 76 62 14 0.18 ncRNA_exonic rs417713 HERC2P2 AU Uncertain 15_23300080_T->C 15 23300080 23300080 T C snp 232.77 0/1 99 76 62 14 0.18 ncRNA_exonic rs28482434 HERC2P2 AU Uncertain 15_23685004_-->CAT 15 23685004 23685004 - CAT indel 2621.73 1/1 99 50 0 50 1.0 exonic rs34879341 GOLGA6L2 AU nonframeshift insertion NM_001304388 exon8 c.2617_2618insATG p.A873delinsDA 0.9944 0.9968 ID=COSM1587758,COSM1587757,COSM959881;OCCURENCE=1(endometrium) Uncertain 15_23685080_G->C 15 23685080 23685080 G C snp 56.77 0/1 85 50 40 10 0.2 exonic GOLGA6L2 AU nonsynonymous SNV NM_001304388 exon8 c.C2542G p.P848A 0.0008 0 Pathogenic 15_23685081_C->T 15 23685081 23685081 C T snp 137.77 0/1 99 50 27 23 0.46 exonic rs76853242 GOLGA6L2 AU synonymous SNV NM_001304388 exon8 c.G2541A p.G847G 0.1660 0.0433 Uncertain 15_23685092_CTC->- 15 23685092 23685094 CTC - indel 396.73 0/1 99 28 16 12 0.43 exonic rs752835816 GOLGA6L2 AU nonframeshift deletion NM_001304388 exon8 c.2528_2530del p.843_844del 0.0192 0.0196 Uncertain 15_23685106_G->A 15 23685106 23685106 G A snp 131.77 0/1 99 37 17 20 0.54 exonic GOLGA6L2 AU nonsynonymous SNV NM_001304388 exon8 c.C2516T p.A839V 0.0271 0.0294 Pathogenic 15_23685107_C->T 15 23685107 23685107 C T snp 107.77 0/1 99 37 22 15 0.41 exonic rs767777035 GOLGA6L2 AU nonsynonymous SNV NM_001304388 exon8 c.G2515A p.A839T 0.0270 0.0284 Pathogenic 15_23685126_T->C 15 23685126 23685126 T C snp 161.77 0/1 99 21 13 8 0.38 exonic rs71401069 GOLGA6L2 AU synonymous SNV NM_001304388 exon8 c.A2496G p.A832A 0.722244 0.8591 0.5246 0.5119 Uncertain 15_23685475_C->T 15 23685475 23685475 C T snp 1877.77 0/1 99 156 69 87 0.56 exonic rs74189507 GOLGA6L2 AU nonsynonymous SNV NM_001304388 exon8 c.G2147A p.R716K 0.472045 0.6677 0.0087 0.1429 Pathogenic 15_23685517_C->T 15 23685517 23685517 C T snp 1963.77 0/1 99 221 126 95 0.43 exonic rs372380699 GOLGA6L2 AU nonsynonymous SNV NM_001304388 exon8 c.G2105A p.C702Y 0.0219649 0.0556 0.4508 0.5 Pathogenic 15_23685542_T->- 15 23685542 23685542 T - indel 8923.73 1/1 99 212 0 212 1.0 exonic rs375981990 GOLGA6L2 AU frameshift deletion NM_001304388 exon8 c.2080delA p.R694fs 1 1 0.9832 0.9719 ID=COSM1587750,COSM1587749;OCCURENCE=1(endometrium) Pathogenic 15_23685583_T->C 15 23685583 23685583 T C snp 1993.77 0/1 99 190 108 82 0.43 exonic rs368496365 GOLGA6L2 AU nonsynonymous SNV NM_001304388 exon8 c.A2039G p.E680G 0.4554 0.4956 Pathogenic 15_23685605_C->T 15 23685605 23685605 C T snp 1410.77 0/1 99 138 82 56 0.41 exonic rs74195441 GOLGA6L2 AU nonsynonymous SNV NM_001304388 exon8 c.G2017A p.E673K 0.0152 0.1667 Pathogenic 15_23685618_C->T 15 23685618 23685618 C T snp 1108.77 0/1 99 98 56 42 0.43 exonic rs558395608 GOLGA6L2 AU synonymous SNV NM_001304388 exon8 c.G2004A p.V668V 0.0257588 0.0315 0.1154 Uncertain 15_23685619_A->G 15 23685619 23685619 A G snp 1089.77 0/1 99 92 53 39 0.42 exonic rs766054980 GOLGA6L2 AU nonsynonymous SNV NM_001304388 exon8 c.T2003C p.V668A 0.0081 0.0882 Pathogenic 15_23685639_C->T 15 23685639 23685639 C T snp 621.77 0/1 99 43 20 23 0.53 exonic rs374969803 GOLGA6L2 AU synonymous SNV NM_001304388 exon8 c.G1983A p.A661A 0.811302 0.8899 0.5178 0.5251 Uncertain 15_23685645_T->A 15 23685645 23685645 T A snp 313.77 0/1 99 30 17 13 0.43 exonic GOLGA6L2 AU nonsynonymous SNV NM_001304388 exon8 c.A1977T p.E659D Pathogenic 15_23685650_T->C 15 23685650 23685650 T C snp 164.77 0/1 99 22 15 7 0.32 exonic GOLGA6L2 AU nonsynonymous SNV NM_001304388 exon8 c.A1972G p.R658G Pathogenic 15_23685655_G->C 15 23685655 23685655 G C snp 104.77 0/1 99 18 13 5 0.28 exonic GOLGA6L2 AU nonsynonymous SNV NM_001304388 exon8 c.C1967G p.A656G Pathogenic 15_23685813_T->A 15 23685813 23685813 T A snp 517.77 1/1 42 18 1 17 0.94 exonic rs150577878 GOLGA6L2 AU synonymous SNV NM_001304388 exon8 c.A1809T p.G603G 1 1 0.9997 0.9975 Uncertain 15_23685826_TCT->- 15 23685826 23685828 TCT - indel 796.73 0/1 99 27 10 17 0.63 exonic rs766696615 GOLGA6L2 AU nonframeshift deletion NM_001304388 exon8 c.1794_1796del p.598_599del 0.4413 0.4345 ID=COSM1477981,COSM1477980;OCCURENCE=5(breast),2(endometrium) Uncertain 15_23685895_C->T 15 23685895 23685895 C T snp 1187.77 0/1 99 121 62 59 0.49 exonic rs111853398 GOLGA6L2 AU nonsynonymous SNV NM_001304388 exon8 c.G1727A p.G576E 0.4781 0.4869 Pathogenic 15_23685913_G->C 15 23685913 23685913 G C snp 95.77 0/1 99 138 120 18 0.13 exonic rs371459990 GOLGA6L2 AU nonsynonymous SNV NM_001304388 exon8 c.C1709G p.A570G Pathogenic 15_23685920_A->C 15 23685920 23685920 A C snp 59.77 0/1 88 138 115 23 0.17 exonic rs200451908 GOLGA6L2 AU nonsynonymous SNV NM_001304388 exon8 c.T1702G p.S568A Pathogenic 15_23685922_C->T 15 23685922 23685922 C T snp 39.77 0/1 68 138 121 17 0.12 exonic rs377626801 GOLGA6L2 AU nonsynonymous SNV NM_001304388 exon8 c.G1700A p.G567E Pathogenic 15_23685946_A->G 15 23685946 23685946 A G snp 50.77 0/1 79 155 133 22 0.14 exonic rs765296034 GOLGA6L2 AU nonsynonymous SNV NM_001304388 exon8 c.T1676C p.V559A 0.0097 0.0172 Pathogenic 15_23685952_G->T 15 23685952 23685952 G T snp 39.77 0/1 68 156 136 20 0.13 exonic rs758363163 GOLGA6L2 AU nonsynonymous SNV NM_001304388 exon8 c.C1670A p.A557E 0.0021 0.0055 Pathogenic 15_23686019_G->C 15 23686019 23686019 G C snp 765.77 0/1 99 123 85 38 0.31 exonic rs759748627 GOLGA6L2 AU nonsynonymous SNV NM_001304388 exon8 c.C1603G p.R535G 0.1316 0.2213 0.4 T 1 N -1.014 T Pathogenic 15_23686031_T->C 15 23686031 23686031 T C snp 804.77 0/1 99 126 84 42 0.33 exonic rs75983100 GOLGA6L2 AU nonsynonymous SNV NM_001304388 exon8 c.A1591G p.K531E 0.1089 0.1933 1 T 1 N -1.002 T 0.02 T 0.007 T Pathogenic 15_23686062_T->C 15 23686062 23686062 T C snp 624.77 0/1 99 132 89 43 0.33 exonic rs755747181 GOLGA6L2 AU nonsynonymous SNV NM_001304388 exon8 c.A1560G p.I520M 0.0228 0.0351 0.12 T 1 N -1.032 T 0.126 T 0.016 T Pathogenic 15_23686113_C->G 15 23686113 23686113 C G snp 155.77 0/1 99 148 122 26 0.18 exonic rs140882803 GOLGA6L2 AU nonsynonymous SNV NM_001304388 exon8 c.G1509C p.Q503H 0.000599042 0.0007 0 0.1 T 1 N -1.042 T 0.003 T 0.0 T Pathogenic 15_23686143_C->T 15 23686143 23686143 C T snp 165.77 0/1 99 145 119 26 0.18 exonic rs190888297 GOLGA6L2 AU synonymous SNV NM_001304388 exon8 c.G1479A p.L493L 6.676e-05 0 Uncertain 15_23686157_G->C 15 23686157 23686157 G C snp 136.77 0/1 99 115 95 20 0.17 exonic rs199834625 GOLGA6L2 AU nonsynonymous SNV NM_001304388 exon8 c.C1465G p.Q489E 1 T 1 N -0.992 T 0.105 T 0.092 T Pathogenic 15_23686162_T->A 15 23686162 23686162 T A snp 135.77 0/1 99 106 89 17 0.16 exonic rs75486959 GOLGA6L2 AU nonsynonymous SNV NM_001304388 exon8 c.A1460T p.E487V 0.39 T 1 N -1.045 T 0.416 T 0.145 T Pathogenic 15_23686163_C->T 15 23686163 23686163 C T snp 78.77 0/1 99 105 89 16 0.15 exonic rs74565846 GOLGA6L2 AU nonsynonymous SNV NM_001304388 exon8 c.G1459A p.E487K 0.9 T 1 N -1.020 T 0.115 T 0.044 T Pathogenic 15_23686598_T->C 15 23686598 23686598 T C snp 349.78 1/1 27 11 0 11 1.0 exonic rs111155256 GOLGA6L2 AU nonsynonymous SNV NM_001304388 exon8 c.A1024G p.K342E 0.808107 0.8899 0.8383 0.9125 0.99 T 0.0 P -0.951 T 0.593 P 0.486 P Pathogenic 15_23686673_G->A 15 23686673 23686673 G A snp 551.77 1/1 42 22 0 22 1.0 exonic rs59122400 GOLGA6L2 AU nonsynonymous SNV NM_001304388 exon8 c.C949T p.R317W 0.726637 0.8899 0.8188 0.9076 0.06 T 0.0 P -1.013 T 0.996 D 0.835 D Pathogenic 15_23686914_T->A 15 23686914 23686914 T A snp 224.84 1/1 18 9 0 9 1.0 intronic rs57504140 GOLGA6L2 AU NM_001304388 exon1 c.1938+85T>A 0.736222 0.8899 Uncertain 15_23686924_T->C 15 23686924 23686924 T C snp 149.03 1/1 12 8 0 8 1.0 intronic rs58446506 GOLGA6L2 AU NM_001304388 exon1 c.1938+95T>C 0.876797 0.8889 Uncertain 15_23687812_T->G 15 23687812 23687812 T G snp 1013.77 1/1 78 30 0 30 1.0 intronic rs2344891 GOLGA6L2 AU NM_001304388 exon3 c.2764+157T>G Uncertain 15_23687819_T->- 15 23687819 23687819 T - indel 237.74 1/1 30 22 0 22 1.0 intronic rs72495057 GOLGA6L2 AU NM_001304388 exon3 c.2764+164delT 0.800919 0.871 Uncertain 15_23688944_A->G 15 23688944 23688944 A G snp 2395.77 1/1 99 94 0 94 1.0 exonic rs4778531 GOLGA6L2 AU nonsynonymous SNV NM_001304388 exon5 c.T571C p.W191R 0.803315 0.874 0.8545 0.8842 0.14 T 0.000 P -1.052 T 0.02 T 0.0 T Pathogenic 15_23689510_C->G 15 23689510 23689510 C G snp 1640.77 1/1 99 60 0 60 1.0 intronic rs12902150 GOLGA6L2 AU NM_001304388 exon6 c.4726-107C>G 0.803714 0.874 Uncertain 15_23855697_G->A 15 23855697 23855697 G A snp 563.77 0/1 99 36 13 23 0.64 intergenic rs116200363 MKRN3 AD 0.0760783 0.005 Uncertain 15_23889033_G->T 15 23889033 23889033 G T snp 605.77 1/1 45 18 0 18 1.0 UTR3 rs9785 MAGEL2 AD 0.76278 0.7698 Uncertain 15_23931507_G->A 15 23931507 23931507 G A snp 1129.77 0/1 99 60 20 40 0.67 exonic rs2192206 NDN AO synonymous SNV NM_002487 exon1 c.C858T p.D286D 0.189497 0.3482 0.158895 0.2268 0.3844 Uncertain 15_23931964_T->C 15 23931964 23931964 T C snp 2145.77 0/1 99 183 93 90 0.49 exonic NDN AO nonsynonymous SNV NM_002487 exon1 c.A401G p.K134R 0.24 T 0.883 N -0.972 T 0.274 T 0.246 T Pathogenic 15_23932467_G->A 15 23932467 23932467 G A snp 630.77 1/1 48 20 0 20 1.0 upstream rs3743340 NDN AO 0.539936 0.5744 Uncertain 15_24921771_G->C 15 24921771 24921771 G C snp 3416.77 0/1 99 250 128 122 0.49 exonic rs1563102 NPAP1 AU nonsynonymous SNV NM_018958 exon1 c.G757C p.G253R 0.273562 0.4673 0.224504 0.3057 0.4552 0.7 T 0.0 P -1.018 T 0.862 T 0.659 P Pathogenic 15_24922208_C->G 15 24922208 24922208 C G snp 2663.77 0/1 99 195 95 100 0.51 exonic rs12905237 NPAP1 AU synonymous SNV NM_018958 exon1 c.C1194G p.A398A 0.122804 0.1528 0.138782 0.1373 0.1615 Uncertain 15_24922230_C->G 15 24922230 24922230 C G snp 2773.77 0/1 99 217 107 110 0.51 exonic rs3742950 NPAP1 AU nonsynonymous SNV NM_018958 exon1 c.C1216G p.Q406E 0.525759 0.4742 0.489159 0.3993 0.4947 0.66 T 0.0 P -1.014 T 0.0 T 0.0 T Pathogenic 15_24923390_C->T 15 24923390 24923390 C T snp 3390.77 0/1 99 249 109 140 0.56 exonic rs60574723 NPAP1 AU synonymous SNV NM_018958 exon1 c.C2376T p.F792F 0.43131 0.4742 0.393049 0.3736 0.4969 Uncertain 15_25219512_T->C 15 25219512 25219512 T C snp 7150.77 1/1 99 250 0 250 1.0 UTR5;UTR3 rs705 SNRPN;SNURF UN 0.521765 0.5198 0.509636 Uncertain 15_25304956_G->A 15 25304956 25304956 G A snp 1330.77 0/1 99 68 24 44 0.65 downstream rs117566360 SNORD116-4 AU 0.00658946 0.0327 Uncertain 15_25307562_A->G 15 25307562 25307562 A G snp 7390.77 1/1 99 250 0 250 1.0 intergenic rs7402542 SNORD116-4 AU 0.969649 0.9931 0.9620 0.9972 Uncertain 15_25310440_A->G 15 25310440 25310440 A G snp 1049.77 1/1 78 32 0 32 1.0 downstream rs6576402 SNORD116-2 AU 0.959864 0.9425 Uncertain 15_25319113_C->T 15 25319113 25319113 C T snp 230.77 0/1 99 16 7 9 0.56 upstream;downstream SNORD116-10;SNORD116-3 UN Uncertain 15_25321029_C->T 15 25321029 25321029 C T snp 1611.77 0/1 99 122 52 70 0.57 upstream rs4906699 SNORD116-11 AU 0.530751 0.5427 0.577956 0.5552 0.5748 Uncertain 15_25324141_C->T 15 25324141 25324141 C T snp 387.77 0/1 99 22 10 12 0.55 upstream rs4344720 SNORD116-13 AU 0.616014 0.5536 Uncertain 15_25326173_T->C 15 25326173 25326173 T C snp 278.77 0/1 87 12 3 9 0.75 upstream;downstream rs1124767 SNORD116-15;SNORD116-14 UN 0.58766 0.5615 Uncertain 15_25327882_-->GTTA 15 25327882 25327882 - GTTA indel 3591.73 0/1 99 141 80 61 0.43 upstream rs763170076 SNORD116-16 AU 0.0004 0.0033 Uncertain 15_25328715_T->C 15 25328715 25328715 T C snp 1482.77 0/1 99 127 65 62 0.49 downstream rs3803326 SNORD116-16 AU 0.588259 0.5635 0.617196 0.5728 0.5859 Uncertain 15_25330550_T->A 15 25330550 25330550 T A snp 1201.77 0/1 99 88 46 42 0.48 ncRNA_exonic rs3803328 SNORD116-18 AU 0.637979 0.5536 0.694105 0.6257 0.5841 Uncertain 15_25415693_T->C 15 25415693 25415693 T C snp 99.28 1/1 9 3 0 3 1.0 upstream rs2739837 SNORD115-1 AU 0.737819 0.998 Uncertain 15_25415759_G->A 15 25415759 25415759 G A snp 963.77 1/1 69 32 0 32 1.0 upstream rs2714734 SNORD115-1 AU 0.715855 0.998 Uncertain 15_25415809_C->T 15 25415809 25415809 C T snp 1728.77 1/1 99 61 0 61 1.0 upstream rs2739838 SNORD115-1 AU 0.712061 0.998 Uncertain 15_25415825_C->T 15 25415825 25415825 C T snp 1205.77 0/1 99 71 29 42 0.59 upstream rs1883009 SNORD115-1 AU 0.289137 0.3065 0.303453 0.3223 0.2913 Uncertain 15_25652101_C->G 15 25652101 25652101 C G snp 254.8 1/1 21 7 0 7 1.0 intronic rs8032479 UBE3A AO NM_130838 exon10 c.66370+1448C>G 0.966454 1 Uncertain 15_25652326_T->G 15 25652326 25652326 T G snp 1424.77 0/1 99 178 110 68 0.38 intronic rs8179187 UBE3A AO NM_000462 exon11 c.69483-1440T>G 0.118011 0.2976 0.048657 0.1072 0.3216 Uncertain 15_25924539_T->C 15 25924539 25924539 T C snp 3041.77 1/1 99 105 0 105 1.0 exonic rs1047700 ATP10A AU synonymous SNV NM_024490 exon21 c.A4449G p.Q1483Q 0.266374 0.2748 0.228356 0.1977 0.2891 Uncertain 15_25925195_T->C 15 25925195 25925195 T C snp 644.77 1/1 48 19 0 19 1.0 intronic rs3736186 ATP10A AU NM_024490 exon2 c.780-72T>C 0.679712 0.6349 Uncertain 15_25926179_C->T 15 25926179 25926179 C T snp 771.77 0/1 99 66 33 33 0.5 exonic rs2076744 ATP10A AU nonsynonymous SNV NM_024490 exon18 c.G3535A p.A1179T 0.282149 0.2599 0.247347 0.2016 0.2668 0.1 T 0.000 P -0.912 T 0.644 T 0.095 P Pathogenic 15_25926186_G->A 15 25926186 25926186 G A snp 789.77 0/1 99 63 30 33 0.52 exonic rs2076743 ATP10A AU synonymous SNV NM_024490 exon18 c.C3528T p.A1176A 0.677915 0.6121 0.680071 0.6345 0.6423 Uncertain 15_25926325_-->AAC 15 25926325 25926325 - AAC indel 423.73 0/1 99 31 15 16 0.52 intronic rs10622382 ATP10A AU NM_024490 exon4 c.1734+104insAAC Uncertain 15_25932789_C->T 15 25932789 25932789 C T snp 795.77 0/1 99 60 28 32 0.53 intronic rs143229441 ATP10A AU NM_024490 exon6 c.8362-60C>T 0.000998403 0.005 Uncertain 15_25937004_C->T 15 25937004 25937004 C T snp 1436.77 0/1 99 150 88 62 0.41 intronic rs2066705 ATP10A AU NM_024490 exon7 c.12451+66C>T 0.446885 0.495 Uncertain 15_25946965_A->C 15 25946965 25946965 A C snp 32.77 0/1 61 5 3 2 0.4 intronic rs4906620 ATP10A AU NM_024490 exon9 c.22575-97A>C 0.228235 0.1538 Uncertain 15_25947016_T->A 15 25947016 25947016 T A snp 122.77 0/1 99 18 13 5 0.28 intronic rs79497018 ATP10A AU NM_024490 exon9 c.22575-46T>A 0.0666933 0.1429 0.041750 0.0515 0.1514 Uncertain 15_25953068_G->A 15 25953068 25953068 G A snp 253.77 0/1 99 14 5 9 0.64 intronic rs2291355 ATP10A AU NM_024490 exon10 c.28635-54G>A 0.33147 0.4931 Uncertain 15_25953198_C->T 15 25953198 25953198 C T snp 2754.77 0/1 99 244 128 116 0.48 exonic rs17555920 ATP10A AU nonsynonymous SNV NM_024490 exon12 c.G2500A p.E834K 0.0642971 0.1419 0.038213 0.0461 0.1500 0.08 T 1 D -0.900 T 0.951 T 0.752 D Pathogenic 15_25961964_A->G 15 25961964 25961964 A G snp 6019.77 1/1 99 223 0 223 1.0 exonic rs10873607 ATP10A AU synonymous SNV NM_024490 exon9 c.T1689C p.P563P 0.992212 1 0.994003 0.9979 1 Uncertain 15_25963599_A->G 15 25963599 25963599 A G snp 649.77 1/1 48 21 0 21 1.0 intronic rs8024374 ATP10A AU NM_024490 exon14 c.39059+53A>G 1 1 Uncertain 15_25963632_C->T 15 25963632 25963632 C T snp 218.84 1/1 18 6 0 6 1.0 intronic rs2291352 ATP10A AU NM_024490 exon14 c.39059+86C>T 0.536542 0.7718 Uncertain 15_25967085_T->C 15 25967085 25967085 T C snp 5453.77 1/1 99 200 1 199 0.99 intronic rs1564828 ATP10A AU NM_024490 exon15 c.42569+29T>C 0.983027 1 0.982623 0.9943 0.9999 Uncertain 15_25972202_-->AA 15 25972202 25972202 - AA indel 130.87 1/1 15 5 0 5 1.0 intronic rs33946132 ATP10A AU NM_024490 exon18 c.47819-104insAA Uncertain 15_25981190_A->G 15 25981190 25981190 A G snp 1773.77 1/1 99 65 0 65 1.0 intronic rs7173593 ATP10A AU NM_024490 exon19 c.56715-12A>G 0.63778 0.6062 0.727203 0.7525 0.5872 Uncertain 15_25981367_C->T 15 25981367 25981367 C T snp 401.77 1/1 30 15 0 15 1.0 intronic rs7177724 ATP10A AU NM_024490 exon19 c.56801+79C>T 0.615615 0.6062 Uncertain 15_25981436_A->C 15 25981436 25981436 A C snp 99.28 1/1 9 3 0 3 1.0 intronic rs7178556 ATP10A AU NM_024490 exon19 c.56801+148A>C 0.639577 0.6062 Uncertain 15_26026139_A->G 15 26026139 26026139 A G snp 631.77 1/1 48 17 0 17 1.0 intronic rs8038726 ATP10A AU NM_024490 exon20 c.101678-26A>G 0.805112 0.75 0.810933 0.8185 0.7428 Uncertain 15_26260450_C->T 15 26260450 26260450 C T snp 283.77 0/1 99 24 15 9 0.38 ncRNA_intronic rs12440137 LOC100128714 AU 0.347244 0.2649 Uncertain 15_26260477_T->C 15 26260477 26260477 T C snp 315.77 0/1 99 61 38 23 0.38 ncRNA_splicing rs12437822 LOC100128714 AU 0.398962 0.2659 Uncertain 15_26793158_A->G 15 26793158 26793158 A G snp 2976.77 0/1 99 243 126 117 0.48 exonic rs185383468 GABRB3 AU,AD nonsynonymous SNV NM_000814 exon9 c.T1204C p.Y402H 0.000199681 0.001 0.0003 0.0030 0.57 T 1 D -0.428 T 0.001 T 0.007 T Pathogenic 15_26806064_T->C 15 26806064 26806064 T C snp 328.77 0/1 99 37 22 15 0.41 intronic rs3751582 GABRB3 AU,AD NM_001278631 exon2 c.13139-14T>C 0.473642 0.7649 0.342611 0.3456 0.7520 Uncertain 15_26866738_C->T 15 26866738 26866738 C T snp 483.77 0/1 99 34 17 17 0.5 intronic rs45542840 GABRB3 AU,AD NM_001278631 exon6 c.73742+57C>T 0.282947 0.1498 Uncertain 15_26874395_T->C 15 26874395 26874395 T C snp 331.78 1/1 27 9 0 9 1.0 intronic rs12148310 GABRB3 AU,AD NM_001191321 exon7 c.81386+70T>C 0.636382 0.9216 Uncertain 15_26887814_A->G 15 26887814 26887814 A G snp 5189.77 1/1 99 199 1 198 0.99 intronic rs754186 GABRB3 AU,AD NM_001278631 exon7 c.94736+139A>G 0.582468 0.8611 Uncertain 15_26887879_T->C 15 26887879 26887879 T C snp 2331.77 1/1 99 73 0 73 1.0 intronic rs754185 GABRB3 AU,AD NM_001278631 exon7 c.94736+204T>C 0.585463 0.8601 Uncertain 15_27017536_G->A 15 27017536 27017536 G A snp 2396.77 0/1 99 249 137 112 0.45 intronic rs8179186 GABRB3 AU,AD NM_001278631 exon8 c.224609-12G>A 0.186901 0.3065 0.101739 0.2221 0.3715 ID=CS077846;DIS=Autism, association with;TAG=DP;PUB=17598645 DP Uncertain 15_27017614_G->A 15 27017614 27017614 G A snp 2625.77 0/1 99 234 118 116 0.5 exonic GABRB3 AU,AD nonsynonymous SNV NM_000814 exon3 c.C175T p.P59S 0.06 T 1 D -0.767 T 0.021 T 0.024 T Pathogenic 15_27018797_G->A 15 27018797 27018797 G A snp 506.77 0/1 99 35 13 22 0.63 exonic rs20318 GABRB3 AU,AD synonymous SNV NM_021912 exon1 c.C75T p.P25P 0.198083 0.3075 0.115129 0.2983 0.4583 Uncertain 15_27018937_G->C 15 27018937 27018937 G C snp 360.77 0/1 99 25 9 16 0.64 upstream rs20317 GABRB3 AU,AD 0.198083 0.3075 ID=CR128440;DIS=Increased promoter activity;TAG=FP;PUB=22765836 FP Uncertain 15_27019040_C->A 15 27019040 27019040 C A snp 135.03 1/1 12 4 0 4 1.0 upstream rs4906901 GABRB3 AU,AD 0.914337 1 Uncertain 15_27182357_T->C 15 27182357 27182357 T C snp 2825.77 0/1 99 249 136 113 0.45 exonic rs140682 GABRA5 AU synonymous SNV NM_000810 exon8 c.T606C p.V202V 0.649561 0.6617 0.643781 0.5927 0.6584 Uncertain 15_27184435_C->T 15 27184435 27184435 C T snp 2726.77 0/1 99 250 132 118 0.47 intronic rs12910925 GABRA5 AU NM_001165037 exon9 c.70676-636C>T 0.337859 0.3442 0.377049 0.4241 0.3579 0.57 T 0.000 P -1.019 T 0.001 T 0.001 T Uncertain 15_27184482_C->T 15 27184482 27184482 C T snp 2269.77 0/1 99 244 144 100 0.41 intronic rs34560927 GABRA5 AU NM_001165037 exon9 c.70676-589C>T 0.33726 0.3442 0.376875 0.4241 0.3571 Uncertain 15_27184517_G->A 15 27184517 27184517 G A snp 1939.77 0/1 99 218 131 87 0.4 intronic rs17647384 GABRA5 AU NM_001165037 exon9 c.70676-554G>A 0.33766 0.3442 0.376352 0.4237 0.3572 0.17 T 0.0 P -1.021 T 0.0 T 0.0 T Uncertain 15_27188353_C->A 15 27188353 27188353 C A snp 359.77 0/1 99 52 35 17 0.33 intronic rs140684 GABRA5 AU NM_001165037 exon10 c.73966-8C>A 0.652556 0.5575 0.788649 0.8039 0.6125 Uncertain 15_27188459_C->T 15 27188459 27188459 C T snp 1539.77 0/1 99 140 70 70 0.5 exonic rs140685 GABRA5 AU synonymous SNV NM_000810 exon10 c.C975T p.A325A 0.453075 0.3452 0.487159 0.5486 0.4858 Uncertain 15_27222098_C->G 15 27222098 27222098 C G snp 1338.77 0/1 99 113 53 60 0.53 intronic rs140671 GABRG3 AU NM_001270873 exon2 c.5466-50C>G 0.129193 0.2093 0.099743 Uncertain 15_27272121_AA->- 15 27272121 27272122 AA - indel 241.77 1/1 21 15 0 15 1.0 intronic rs28399527 GABRG3 AU NM_001270873 exon3 c.55286+153_55286+154delAA 0.545128 0.4415 Uncertain 15_27516741_AGTC->- 15 27516741 27516744 AGTC - indel 2566.73 0/1 99 122 67 55 0.45 intronic rs150803705 GABRG3 AU NM_001270873 exon4 c.355273-55214_355273-55211delAGTC 0.55631 0.2629 0.4776 0.3358 Uncertain 15_27574144_A->G 15 27574144 27574144 A G snp 670.77 0/1 99 48 24 24 0.5 intronic rs75243712 GABRG3 AU NM_001270873 exon5 c.357353+109A>G 0.00738818 0.0367 Uncertain 15_27772676_C->T 15 27772676 27772676 C T snp 1932.77 0/1 99 191 110 81 0.42 exonic rs140679 GABRG3 AU synonymous SNV NM_033223 exon8 c.C963T p.T321T 0.516374 0.6577 0.459839 0.5373 0.6703 1.0 P -1.149 T Likely benign 15_27772892_G->A 15 27772892 27772892 G A snp 1153.77 1/1 84 32 0 32 1.0 intronic rs2303879 GABRG3 AU NM_033223 exon8 c.556093+117G>A 0.690495 0.6895 Uncertain 15_27776043_T->C 15 27776043 27776043 T C snp 178.9 1/1 15 5 0 5 1.0 intronic rs3097489 GABRG3 AU NM_033223 exon10 c.561063-1702T>C 0.692093 0.7034 Uncertain 15_27890491_G->T 15 27890491 27890491 G T snp 4113.77 1/1 99 154 0 154 1.0 intergenic rs1871017 GABRG3 AU 0.576677 0.7768 0.472794 0.5316 0.7938 Uncertain 15_27890572_T->- 15 27890572 27890572 T - indel 1571.73 1/1 99 58 0 58 1.0 intergenic rs5811500 GABRG3 AU 0.807907 0.8383 Uncertain 15_27890589_A->G 15 27890589 27890589 A G snp 1417.77 1/1 99 45 0 45 1.0 intergenic rs1871018 GABRG3 AU 0.58726 0.7768 Uncertain 15_27890683_G->T 15 27890683 27890683 G T snp 50.74 1/1 6 2 0 2 1.0 intergenic rs1382062 GABRG3 AU 0.815096 0.8383 Uncertain 15_28090173_C->T 15 28090173 28090173 C T snp 2086.77 0/1 99 186 98 88 0.47 exonic rs12592307 OCA2 AR synonymous SNV NM_000275 exon23 c.G2364A p.S788S 0.282748 0.5635 0.174689 0.2622 0.5651 Uncertain 15_28096453_A->G 15 28096453 28096453 A G snp 244.77 0/1 99 18 9 9 0.5 intronic rs8025804 OCA2 AR NM_000275 exon3 c.95994-74A>G 0.332468 0.4018 Uncertain 15_28096538_A->G 15 28096538 28096538 A G snp 717.77 0/1 99 68 35 33 0.49 exonic rs1800419 OCA2 AR synonymous SNV NM_000275 exon22 c.T2328C p.A776A 0.502396 0.4395 0.496463 0.4493 0.4416 Uncertain 15_28116173_C->T 15 28116173 28116173 C T snp 832.77 0/1 99 41 16 25 0.61 intronic rs12594397 OCA2 AR NM_000275 exon4 c.115766-126C>T 0.3123 0.3968 Uncertain 15_28116275_G->C 15 28116275 28116275 G C snp 5702.77 1/1 99 209 1 208 1.0 intronic rs7175046 OCA2 AR NM_000275 exon4 c.115766-24G>C 0.88778 1 0.778256 0.7778 0.9992 Uncertain 15_28171147_T->C 15 28171147 28171147 T C snp 216.84 1/1 18 6 0 6 1.0 intronic rs2594928 OCA2 AR NM_000275 exon6 c.170739-125T>C 0.697484 0.9633 Uncertain 15_28197037_T->C 15 28197037 28197037 T C snp 1836.77 0/1 99 140 59 81 0.58 exonic rs1800414 OCA2 AR nonsynonymous SNV NM_000275 exon18 c.A1844G p.H615R 0.121006 0.5962 0.000538 0.0453 0.5996 0.02 T 0.996 P -0.899 T 0.541 P 0.234 P ID=CM101831;DIS=Skin pigmentation, association with;TAG=DP;PUB=20221248 DP Pathogenic 15_28211758_A->G 15 28211758 28211758 A G snp 1293.77 1/1 93 42 0 42 1.0 intronic rs4778218 OCA2 AR NM_000275 exon10 c.211302-77A>G 0.864617 0.998 Uncertain 15_28230184_T->C 15 28230184 28230184 T C snp 2833.77 1/1 99 103 0 103 1.0 intronic rs1800410 OCA2 AR NM_000275 exon12 c.229676-25T>C 0.367812 0.8462 0.173458 0.2318 0.8543 Uncertain 15_28231793_T->C 15 28231793 28231793 T C snp 2131.77 1/1 99 74 0 74 1.0 splicing rs10852218 OCA2 AR NM_000275 exon13 c.231256+4T>C 0.693291 0.999 0.709134 0.7793 0.9991 Pathogenic 15_28235773_C->T 15 28235773 28235773 C T snp 1920.77 0/1 99 178 94 84 0.47 exonic rs1800404 OCA2 AR synonymous SNV NM_000275 exon10 c.G1065A p.A355A 0.410743 0.3859 0.598877 0.6367 0.3865 Uncertain 15_28273350_T->C 15 28273350 28273350 T C snp 86.77 0/1 30 5 1 4 0.8 intronic rs2290100 OCA2 AR NM_000275 exon21 c.272672+145T>C 0.195487 0.6577 Uncertain 15_28357230_T->C 15 28357230 28357230 T C snp 1140.77 1/1 84 43 0 43 1.0 intronic rs4778245 HERC2 AR NM_004667 exon1 c.273+49T>C 0.931709 0.9812 0.969534 0.9680 0.9860 Uncertain 15_28359744_G->A 15 28359744 28359744 G A snp 138.03 1/1 12 7 0 7 1.0 intronic rs7495441 HERC2 AR NM_004667 exon4 c.2849-13G>A 0.790935 0.9772 0.825926 0.9275 0.9727 Uncertain 15_28360081_T->C 15 28360081 28360081 T C snp 174.9 1/1 15 6 0 6 1.0 intronic rs7497014 HERC2 AR NM_004667 exon4 c.3040+133T>C 0.927915 0.9812 Uncertain 15_28360888_-->T 15 28360888 28360888 - T indel 415.73 1/1 33 12 0 12 1.0 intronic rs5811542 HERC2 AR NM_004667 exon5 c.3779+201insT 0.791134 0.9772 Uncertain 15_28361764_C->T 15 28361764 28361764 C T snp 410.77 1/1 33 11 0 11 1.0 intronic rs4778247 HERC2 AR NM_004667 exon6 c.4902-46C>T 0.790935 0.9772 0.826234 0.9302 0.9728 Uncertain 15_28362459_G->A 15 28362459 28362459 G A snp 4257.77 1/1 99 142 0 142 1.0 intronic rs7495875 HERC2 AR NM_004667 exon7 c.5392+159G>A 0.791134 0.9782 0.9058 0.9746 Uncertain 15_28368995_C->T 15 28368995 28368995 C T snp 135.03 1/1 12 4 0 4 1.0 intronic rs11074322 HERC2 AR NM_004667 exon9 c.12274-187C>T 0.791733 0.9792 Uncertain 15_28375872_A->G 15 28375872 28375872 A G snp 984.77 1/1 72 27 0 27 1.0 intronic rs6416603 HERC2 AR NM_004667 exon12 c.18832+132A>G 0.927915 0.9821 Uncertain 15_28377196_-->CT 15 28377196 28377196 - CT indel 7666.73 1/1 99 140 0 140 1.0 intronic rs10627923 HERC2 AR NM_004667 exon13 c.20337-49insCT 0.928115 0.9821 0.963903 0.9669 0.9859 Uncertain 15_28377772_C->T 15 28377772 28377772 C T snp 1108.77 1/1 81 30 0 30 1.0 intronic rs8025035 HERC2 AR NM_004667 exon14 c.20890-26C>T 0.623602 0.5833 0.775217 0.8338 0.5523 Uncertain 15_28378122_T->G 15 28378122 28378122 T G snp 216.84 1/1 18 6 0 6 1.0 intronic rs4778141 HERC2 AR NM_004667 exon14 c.21068+146T>G 0.791534 0.9782 Uncertain 15_28380518_T->A 15 28380518 28380518 T A snp 267.8 1/1 21 7 0 7 1.0 intronic rs4778249 HERC2 AR NM_004667 exon15 c.23715-105T>A 0.780751 0.9782 Uncertain 15_28412872_G->A 15 28412872 28412872 G A snp 1814.77 0/1 99 186 103 83 0.45 exonic rs61756152 HERC2 AR synonymous SNV NM_004667 exon68 c.C10515T p.A3505A 0.172524 0.2946 0.088728 0.1280 0.2943 Uncertain 15_28414665_T->C 15 28414665 28414665 T C snp 691.77 1/1 51 24 0 24 1.0 exonic rs7494786 HERC2 AR synonymous SNV NM_004667 exon66 c.A10194G p.S3398S 0.88119 0.9831 0.918846 0.9524 0.9861 Uncertain 15_28419746_G->A 15 28419746 28419746 G A snp 504.77 0/1 99 66 45 21 0.32 exonic rs139335991 HERC2 AR synonymous SNV NM_004667 exon65 c.C9852T p.N3284N 0.1384 0.4394 Uncertain 15_28422486_T->C 15 28422486 28422486 T C snp 915.77 0/1 99 80 39 41 0.51 intronic rs151147091 HERC2 AR NM_004667 exon34 c.65656-78T>C 0.0323482 0.0972 Uncertain 15_28437061_A->G 15 28437061 28437061 A G snp 565.77 0/1 99 39 19 20 0.51 intronic rs72714143 HERC2 AR NM_004667 exon41 c.80198-45A>G 0.171925 0.2927 0.085666 0.1281 0.2967 Uncertain 15_28441817_G->T 15 28441817 28441817 G T snp 319.77 0/1 99 23 11 12 0.52 intronic rs2525936 HERC2 AR NM_004667 exon43 c.84807+102G>T 0.417732 0.2937 Uncertain 15_28447322_C->T 15 28447322 28447322 C T snp 144.77 0/1 99 60 43 17 0.28 exonic rs148451375 HERC2 AR synonymous SNV NM_004667 exon47 c.G7554A p.T2518T 0.0259 0.1473 Uncertain 15_28447562_A->G 15 28447562 28447562 A G snp 202.77 0/1 99 153 124 29 0.19 exonic rs146883683 HERC2 AR nonsynonymous SNV NM_004667 exon46 c.T7411C p.S2471P 0.1139 0.4307 1 T 0.993 N -1.006 T 0.0 T 0.0 T Pathogenic 15_28478799_G->A 15 28478799 28478799 G A snp 1443.77 0/1 99 115 55 60 0.52 intronic rs72714147 HERC2 AR NM_004667 exon66 c.121901-10G>A 0.159744 0.2907 0.075273 0.1247 0.2905 Uncertain 15_28502279_A->G 15 28502279 28502279 A G snp 2729.77 0/1 99 195 88 107 0.55 exonic rs11631797 HERC2 AR synonymous SNV NM_004667 exon17 c.T2445C p.G815G 0.442492 0.3006 0.667128 0.6876 0.2674 Uncertain 15_28517258_C->G 15 28517258 28517258 C G snp 65.77 0/1 94 12 9 3 0.25 intronic rs761160407 HERC2 AR NM_004667 exon85 c.160452-102C>G Uncertain 15_28517261_G->A 15 28517261 28517261 G A snp 64.77 0/1 93 13 9 4 0.31 intronic rs374453464 HERC2 AR NM_004667 exon85 c.160452-99G>A 0.000399361 Uncertain 15_28517282_T->G 15 28517282 28517282 T G snp 64.77 0/1 93 15 11 4 0.27 intronic HERC2 AR NM_004667 exon85 c.160452-78T>G Uncertain 15_28517283_G->C 15 28517283 28517283 G C snp 64.77 0/1 93 15 11 4 0.27 intronic HERC2 AR NM_004667 exon85 c.160452-77G>C Uncertain 15_28517287_T->A 15 28517287 28517287 T A snp 58.77 0/1 87 19 15 4 0.21 intronic rs754171780 HERC2 AR NM_004667 exon85 c.160452-73T>A Uncertain 15_28517291_T->C 15 28517291 28517291 T C snp 55.77 0/1 84 20 16 4 0.2 intronic rs764331546 HERC2 AR NM_004667 exon85 c.160452-69T>C Uncertain 15_28517295_A->G 15 28517295 28517295 A G snp 49.77 0/1 78 23 19 4 0.17 intronic rs779147384 HERC2 AR NM_004667 exon85 c.160452-65A>G Uncertain 15_28517303_T->G 15 28517303 28517303 T G snp 49.77 0/1 78 25 20 5 0.2 intronic rs752732664 HERC2 AR NM_004667 exon85 c.160452-57T>G Uncertain 15_28517305_T->A 15 28517305 28517305 T A snp 49.77 0/1 78 25 20 5 0.2 intronic rs767566798 HERC2 AR NM_004667 exon85 c.160452-55T>A Uncertain 15_28517310_G->A 15 28517310 28517310 G A snp 49.77 0/1 78 26 21 5 0.19 intronic rs199951842 HERC2 AR NM_004667 exon85 c.160452-50G>A 0.4941 0.4993 Uncertain 15_28517436_T->C 15 28517436 28517436 T C snp 514.77 0/1 99 74 45 29 0.39 exonic rs75181529 HERC2 AR synonymous SNV NM_004667 exon9 c.A1008G p.P336P 0.4931 0.4995 Uncertain 15_28517539_G->A 15 28517539 28517539 G A snp 241.77 0/1 99 50 40 10 0.2 intronic rs80340439 HERC2 AR NM_004667 exon85 c.160624+7G>A 0.4810 0.4879 Uncertain 15_28517546_G->C 15 28517546 28517546 G C snp 176.77 0/1 99 46 37 9 0.2 intronic rs79819039 HERC2 AR NM_004667 exon85 c.160624+14G>C 0.4692 0.4771 Uncertain 15_28953403_G->A 15 28953403 28953403 G A snp 724.77 0/1 99 74 42 32 0.43 intronic rs28623038 GOLGA8M AU NM_001282468 exon14 c.6220+84G>A 0.294529 0.625 0.2702 0.6621 0.03 T 0.0 P -0.956 T Uncertain 15_28953412_C->T 15 28953412 28953412 C T snp 823.77 0/1 99 85 48 37 0.44 intronic rs28418661 GOLGA8M AU NM_001282468 exon14 c.6220+93C>T 0.294529 0.625 0.2197 0.6400 0.17 T 0.0 P -0.991 T Uncertain 15_29093483_G->T 15 29093483 29093483 G T snp 46.77 0/1 33 3 1 2 0.67 ncRNA_intronic rs3963748 GOLGA6L7P AU 0.0984425 0.122 Uncertain 15_29093528_G->- 15 29093528 29093528 G - indel 404.73 0/1 99 21 6 15 0.71 ncRNA_intronic rs58669327 GOLGA6L7P AU 0.25619 0.121 Uncertain 15_29347019_T->C 15 29347019 29347019 T C snp 367.77 0/1 99 40 24 16 0.4 exonic rs8040932 APBA2 AU nonsynonymous SNV NM_005503 exon3 c.T932C p.L311P 0.311302 0.1319 0.346852 0.2162 0.1521 0.94 T 0.417 P -0.971 T 0.0 T 0.0 T Pathogenic 15_29368221_A->G 15 29368221 29368221 A G snp 569.77 0/1 99 62 34 28 0.45 intronic rs2279498 APBA2 AU NM_005503 exon5 c.22170-36A>G 0.128195 0.1587 0.153083 0.1275 0.1681 Uncertain 15_29385149_A->G 15 29385149 29385149 A G snp 886.77 1/1 66 26 0 26 1.0 intronic rs4779760 APBA2 AU NM_005503 exon6 c.39190-128A>G 0.810703 0.9484 Uncertain 15_29385204_A->G 15 29385204 29385204 A G snp 2435.77 1/1 99 83 0 83 1.0 intronic rs4779761 APBA2 AU NM_005503 exon6 c.39190-73A>G 0.810703 0.9494 Uncertain 15_29386593_G->A 15 29386593 29386593 G A snp 1350.77 1/1 99 50 0 50 1.0 intronic rs8037972 APBA2 AU NM_005503 exon7 c.40429+77G>A 0.790136 0.9484 0.838152 Uncertain 15_29390858_G->A 15 29390858 29390858 G A snp 729.77 0/1 99 59 30 29 0.49 intronic rs57100286 APBA2 AU NM_005503 exon8 c.44692+79G>A 0.163738 0.2282 Uncertain 15_29390915_C->T 15 29390915 29390915 C T snp 335.77 0/1 99 24 11 13 0.54 intronic rs59616706 APBA2 AU NM_005503 exon8 c.44692+136C>T 0.157149 0.2272 Uncertain 15_29394009_C->T 15 29394009 29394009 C T snp 2688.77 0/1 99 247 128 119 0.48 intronic rs73370275 APBA2 AU NM_005503 exon9 c.47900+22C>T 0.179712 0.3016 0.144494 0.1863 0.3544 0.0 P -0.946 T 0.386 T 0.043 T Uncertain 15_29398781_C->T 15 29398781 29398781 C T snp 1017.77 0/1 99 61 21 40 0.66 intronic rs3816857 APBA2 AU NM_005503 exon11 c.52722-28C>T 0.186302 0.3175 0.147086 0.1515 0.3123 Uncertain 15_29399148_G->T 15 29399148 29399148 G T snp 439.77 0/1 99 31 15 16 0.52 intronic rs2306935 APBA2 AU NM_005503 exon11 c.52935+126G>T 0.208067 0.3125 Uncertain 15_29400379_C->T 15 29400379 29400379 C T snp 164.77 0/1 63 8 2 6 0.75 intronic rs2279483 APBA2 AU NM_005503 exon12 c.54385-93C>T 0.561102 0.5556 Uncertain 15_29415560_G->A 15 29415560 29415560 G A snp 3389.77 0/1 99 250 112 138 0.55 exonic rs3751562 FAM189A1 AU synonymous SNV NM_015307 exon11 c.C1602T p.D534D 0.603035 0.5774 0.686597 0.7607 0.5877 Uncertain 15_29415698_A->G 15 29415698 29415698 A G snp 5460.77 1/1 99 179 0 179 1.0 exonic rs3751563 FAM189A1 AU synonymous SNV NM_015307 exon11 c.T1464C p.D488D 0.88738 0.9127 0.9070 0.9151 Uncertain 15_29416901_A->G 15 29416901 29416901 A G snp 1297.77 0/1 99 128 67 61 0.48 exonic rs2279482 FAM189A1 AU nonsynonymous SNV NM_015307 exon10 c.T1292C p.V431A 0.171326 0.2202 0.118703 0.1412 0.2461 0.55 T 0.0 P -0.940 T 0.0 T 0.0 T Pathogenic 15_29417057_A->G 15 29417057 29417057 A G snp 1436.77 0/1 99 118 52 66 0.56 intronic rs17749179 FAM189A1 AU NM_015307 exon2 c.1423+93A>G 0.151757 0.1548 Uncertain 15_29417099_G->C 15 29417099 29417099 G C snp 2080.77 1/1 99 71 0 71 1.0 intronic rs12438521 FAM189A1 AU NM_015307 exon2 c.1423+135G>C 0.921526 0.9137 Uncertain 15_29417146_G->A 15 29417146 29417146 G A snp 251.77 0/1 99 24 15 9 0.38 intronic rs2279481 FAM189A1 AU NM_015307 exon2 c.1423+182G>A 0.13738 0.2212 Uncertain 15_29417148_G->C 15 29417148 29417148 G C snp 252.77 0/1 99 23 14 9 0.39 intronic rs2279480 FAM189A1 AU NM_015307 exon2 c.1423+184G>C 0.13758 0.2212 Uncertain 15_29418520_C->T 15 29418520 29418520 C T snp 412.77 0/1 99 42 21 21 0.5 exonic rs2256273 FAM189A1 AU nonsynonymous SNV NM_015307 exon9 c.G1178A p.R393H 0.574481 0.5298 0.665134 0.6991 0.5348 0.2 T 0.0 P -1.011 T 0.005 T 0.002 T Pathogenic 15_29418573_A->G 15 29418573 29418573 A G snp 401.77 0/1 99 39 20 19 0.49 exonic rs2672680 FAM189A1 AU synonymous SNV NM_015307 exon9 c.T1125C p.H375H 0.664936 0.5317 0.7415 0.5304 Uncertain 15_29418574_T->C 15 29418574 29418574 T C snp 409.77 0/1 99 40 21 19 0.47 exonic rs2256277 FAM189A1 AU nonsynonymous SNV NM_015307 exon9 c.A1124G p.H375R 0.609625 0.5317 0.7183 0.5304 0.6 T 0.0 P -0.947 T 0.0 T 0.0 T Pathogenic 15_29418745_G->T 15 29418745 29418745 G T snp 353.77 0/1 99 41 22 19 0.46 intronic rs968476 FAM189A1 AU NM_015307 exon3 c.3153+51G>T 0.630192 0.5278 Uncertain 15_29444131_C->- 15 29444131 29444131 C - indel 1816.73 1/1 99 49 0 49 1.0 intronic rs59230279 FAM189A1 AU NM_015307 exon7 c.28503+87delC 0.97524 1 Uncertain 15_29544523_A->C 15 29544523 29544523 A C snp 2065.77 0/1 99 148 65 83 0.56 intronic rs11071669 FAM189A1 AU NM_015307 exon9 c.129030-48A>C 0.507788 0.6329 0.510512 0.5659 0.6451 Uncertain 15_29544656_T->C 15 29544656 29544656 T C snp 2333.77 0/1 99 224 125 99 0.44 exonic rs4583203 FAM189A1 AU synonymous SNV NM_015307 exon3 c.A303G p.A101A 0.499201 0.6339 0.500657 0.5650 0.6445 Uncertain 15_29862654_C->G 15 29862654 29862654 C G snp 219.84 1/1 18 7 0 7 1.0 intronic rs111717681 FAM189A1 AU NM_015307 exon11 c.447167-54C>G 0.691693 0.6855 Uncertain 15_30008856_C->A 15 30008856 30008856 C A snp 2539.77 1/1 99 102 0 102 1.0 exonic rs7166878 TJP1 AU synonymous SNV NM_175610 exon22 c.G3921T p.A1307A 0.998403 1 0.999243 0.9997 1 Uncertain 15_30008889_G->A 15 30008889 30008889 G A snp 3150.77 1/1 99 114 0 114 1.0 exonic rs2229518 TJP1 AU synonymous SNV NM_175610 exon22 c.C3888T p.A1296A 0.786741 0.8641 0.792506 0.8285 0.8577 Uncertain 15_30011427_C->T 15 30011427 30011427 C T snp 443.77 1/1 33 14 0 14 1.0 intronic rs11073215 TJP1 AU NM_001301026 exon8 c.17544+85C>T 0.939297 1 Uncertain 15_30018553_A->T 15 30018553 30018553 A T snp 3355.77 1/1 99 129 0 129 1.0 intronic rs4073316 TJP1 AU NM_001301026 exon10 c.24784-29A>T 0.755791 0.8641 0.756636 0.8196 0.8583 Uncertain 15_30026377_A->C 15 30026377 30026377 A C snp 1509.77 0/1 99 119 57 62 0.52 intronic rs75453688 TJP1 AU NM_001301026 exon16 c.32679-100A>C 0.000599042 0.003 Uncertain 15_30058297_G->A 15 30058297 30058297 G A snp 168.9 1/1 15 5 0 5 1.0 intronic rs10775231 TJP1 AU NM_001301026 exon23 c.64670-171G>A 0.810304 0.9583 Uncertain 15_30064495_C->T 15 30064495 30064495 C T snp 554.77 1/1 42 15 0 15 1.0 intronic rs1383315 TJP1 AU NM_001301026 exon24 c.70571+126C>T 0.78754 0.8641 Uncertain 15_30069921_T->- 15 30069921 30069921 T - indel 337.74 1/1 27 9 0 9 1.0 intronic rs34542662 TJP1 AU NM_001301026 exon25 c.71762+4361delT 0.939896 1 Uncertain 15_30070198_A->C 15 30070198 30070198 A C snp 804.77 1/1 60 26 0 26 1.0 intronic rs1904812 TJP1 AU NM_001301026 exon25 c.71762+4638A>C 0.939696 1 Uncertain 15_30663397_-->AAC 15 30663397 30663397 - AAC indel 1319.73 0/1 99 54 28 26 0.48 intronic rs199781709 CHRFAM7A AU NM_148911 exon3 c.8892+10insAAC 0.433307 0.6042 0.3644 0.5115 Uncertain 15_30663407_C->T 15 30663407 30663407 C T snp 655.77 0/1 99 213 110 103 0.48 intronic rs149768281 CHRFAM7A AU NM_148911 exon3 c.8892+20C>T 0.3908 0.3903 Uncertain 15_30664453_C->T 15 30664453 30664453 C T snp 3279.77 1/1 99 146 9 137 0.94 exonic rs149526715 CHRFAM7A AU synonymous SNV NM_139320 exon7 c.G420A p.T140T 0.963059 0.9931 0.9870 0.9931 Uncertain 15_30665281_CA->- 15 30665281 30665282 CA - indel 2954.73 0/1 99 96 34 62 0.65 exonic rs201490160 CHRFAM7A AU frameshift deletion NM_139320 exon6 c.227_228del p.L76fs 0.386981 0.6647 0.354433 0.4024 0.6789 Pathogenic 15_30700159_A->G 15 30700159 30700159 A G snp 740.77 0/1 99 248 190 58 0.23 exonic rs62016504 GOLGA8R AU nonsynonymous SNV NM_001282484 exon11 c.T823C p.W275R 0.4812 0.4986 1 T -0.952 T Pathogenic 15_30700263_T->C 15 30700263 30700263 T C snp 1598.77 1/1 99 61 0 61 1.0 intronic rs2564642 GOLGA8R AU NM_001282484 exon9 c.4253+68T>C Uncertain 15_30700278_C->T 15 30700278 30700278 C T snp 1007.77 1/1 78 35 0 35 1.0 intronic rs2648129 GOLGA8R AU NM_001282484 exon9 c.4253+83C>T 0.959665 1 Uncertain 15_31119800_G->A 15 31119800 31119800 G A snp 96.28 1/1 9 3 0 3 1.0 ncRNA_intronic rs11632454 HERC2P10 AU 0.672923 0.9593 Uncertain 15_31119861_G->A 15 31119861 31119861 G A snp 567.77 1/1 42 19 0 19 1.0 ncRNA_intronic rs3829484 HERC2P10 AU 0.528954 0.8264 Uncertain 15_31129037_G->A 15 31129037 31129037 G A snp 3009.77 1/1 99 111 0 111 1.0 intergenic rs11070624 HERC2P10 AU 0.528754 0.8264 Uncertain 15_31197564_G->A 15 31197564 31197564 G A snp 4747.77 1/1 99 156 0 156 1.0 exonic rs4779794 FAN1 AR nonsynonymous SNV NM_014967 exon2 c.G698A p.G233E 0.422524 0.7679 0.319517 0.4594 0.8049 1 T 0.0 P -0.903 T 0.418 T 0.121 T Pathogenic 15_31203093_C->T 15 31203093 31203093 C T snp 1214.77 1/1 87 42 0 42 1.0 intronic rs3794594 FAN1 AR NM_014967 exon4 c.6152+75C>T 0.445887 0.7688 0.339395 0.4579 0.7887 Uncertain 15_31210651_A->G 15 31210651 31210651 A G snp 54.74 1/1 6 2 0 2 1.0 intronic rs2293314 FAN1 AR NM_014967 exon6 c.13632+153A>G 0.482029 0.8264 Uncertain 15_31218164_T->C 15 31218164 31218164 T C snp 3412.77 1/1 99 111 0 111 1.0 intronic rs2959037 FAN1 AR NM_014967 exon10 c.21276+22T>C 0.748602 0.9831 0.622347 0.6711 0.9809 Uncertain 15_31220709_-->TG 15 31220709 31220709 - TG indel 2237.73 ./1 99 50 0 50 1.0 intronic rs143970863 FAN1 AR NM_014967 exon11 c.23889-46insTG Uncertain 15_31220709_-->TGTG 15 31220709 31220709 - TGTG indel 2237.73 ./1 99 50 0 50 1.0 intronic rs61136501 FAN1 AR NM_014967 exon11 c.23889-46insTGTG Uncertain 15_31221745_C->A 15 31221745 31221745 C A snp 50.74 1/1 6 2 0 2 1.0 intronic rs10152143 FAN1 AR NM_014967 exon12 c.24734+145C>A 0.748203 0.9831 Uncertain 15_31229420_T->C 15 31229420 31229420 T C snp 3187.75 1/1 99 124 0 124 1.0 exonic rs2955795 FAN1 AR synonymous SNV NM_014967 exon14 c.T3015C p.H1005H 0.457069 0.8294 0.348201 0.4755 0.8515 Uncertain 15_31233220_C->T 15 31233220 31233220 C T snp 584.77 1/1 45 18 0 18 1.0 UTR3 rs2955792 MTMR10 AU 0.893171 0.9921 Uncertain 15_31235357_C->T 15 31235357 31235357 C T snp 170.9 1/1 15 5 0 5 1.0 intronic rs2293319 MTMR10 AU NM_017762 exon2 c.1603+82C>T 0.719249 0.8462 Uncertain 15_31244083_T->G 15 31244083 31244083 T G snp 4670.77 1/1 99 159 0 159 1.0 intronic rs2955790 MTMR10 AU NM_017762 exon5 c.10498-87T>G 0.499002 0.8333 Uncertain 15_31244263_C->T 15 31244263 31244263 C T snp 4897.77 1/1 99 165 0 165 1.0 intronic rs2955789 MTMR10 AU NM_017762 exon5 c.10569+22C>T 0.834265 0.9782 0.795282 0.8418 0.9807 Uncertain 15_31245880_C->T 15 31245880 31245880 C T snp 359.78 1/1 27 12 0 12 1.0 intronic rs1404467 MTMR10 AU NM_017762 exon6 c.12162+46C>T 0.688698 0.8452 0.714707 0.7402 0.8469 Uncertain 15_31251334_A->- 15 31251334 31251334 A - indel 2013.73 1/1 99 75 0 75 1.0 intronic rs11340006 MTMR10 AU NM_017762 exon9 c.17652+10delA 0.480232 0.8313 0.5265 0.8543 Uncertain 15_31251366_G->A 15 31251366 31251366 G A snp 1157.77 1/1 84 41 0 41 1.0 intronic rs2949573 MTMR10 AU NM_017762 exon9 c.17652+42G>A 0.478834 0.8313 0.369956 0.4939 0.8583 Uncertain 15_31267147_C->T 15 31267147 31267147 C T snp 1739.77 1/1 99 74 0 74 1.0 exonic rs1133642 MTMR10 AU synonymous SNV NM_017762 exon4 c.G318A p.E106E 0.480032 0.8313 0.373434 0.5398 0.8538 Uncertain 15_31330280_A->G 15 31330280 31330280 A G snp 3917.77 1/1 99 155 0 155 1.0 exonic rs2288242 TRPM1 AU synonymous SNV NM_002420 exon18 c.T2340C p.N780N 0.759385 0.9524 0.773620 0.8104 0.9696 Uncertain 15_31333960_A->G 15 31333960 31333960 A G snp 52.74 1/1 6 2 0 2 1.0 intronic rs7179304 TRPM1 AU NM_001252024 exon12 c.40129-193A>G 0.79373 0.9534 Uncertain 15_31339151_A->C 15 31339151 31339151 A C snp 535.77 1/1 42 14 0 14 1.0 intronic rs11636121 TRPM1 AU NM_001252024 exon14 c.45289-162A>C 0.565695 0.9444 Uncertain 15_31341364_T->C 15 31341364 31341364 T C snp 52.74 1/1 6 2 0 2 1.0 intronic rs7173280 TRPM1 AU NM_001252024 exon16 c.47553-213T>C 0.711062 0.9524 Uncertain 15_31341461_G->A 15 31341461 31341461 G A snp 1411.77 1/1 99 46 0 46 1.0 intronic rs10851487 TRPM1 AU NM_001252024 exon16 c.47553-116G>A 0.519169 0.9444 Uncertain 15_31341516_C->T 15 31341516 31341516 C T snp 2678.77 1/1 99 99 0 99 1.0 intronic rs2288241 TRPM1 AU NM_001252024 exon16 c.47553-61C>T 0.507588 0.9415 Uncertain 15_31342744_C->T 15 31342744 31342744 C T snp 3908.77 1/1 99 135 0 135 1.0 exonic rs1035705 TRPM1 AU synonymous SNV NM_002420 exon11 c.G1239A p.T413T 0.519169 0.9435 0.438990 0.5419 0.9606 Uncertain 15_31357138_A->G 15 31357138 31357138 A G snp 1691.77 1/1 99 60 0 60 1.0 intronic rs919001 TRPM1 AU NM_001252024 exon22 c.64254-1140A>G 0.578275 0.7956 Uncertain 15_31359457_T->G 15 31359457 31359457 T G snp 2548.77 1/1 99 74 0 74 1.0 intronic rs3784599 TRPM1 AU NM_001252024 exon23 c.65366+67T>G 0.504193 0.8006 Uncertain 15_31362352_C->T 15 31362352 31362352 C T snp 2172.77 1/1 99 79 0 79 1.0 exonic rs2241493 TRPM1 AU nonsynonymous SNV NM_002420 exon3 c.G95A p.S32N 0.790935 0.9296 0.792635 0.7991 0.9471 0.51 T 0.0 P -0.996 T 0.0 T 0.001 T Pathogenic 15_31368890_T->C 15 31368890 31368890 T C snp 199.8 0/1 21 8 1 7 0.88 intronic rs2241496 TRPM1 AU NM_001252024 exon26 c.75083-217T>C 0.560903 0.7748 Uncertain 15_31368915_C->G 15 31368915 31368915 C G snp 735.77 1/1 57 19 0 19 1.0 intronic rs2241497 TRPM1 AU NM_001252024 exon26 c.75083-192C>G 0.54972 0.7738 Uncertain 15_31369123_A->G 15 31369123 31369123 A G snp 5126.77 1/1 99 174 0 174 1.0 exonic rs4779816 TRPM1 AU nonsynonymous SNV NM_002420 exon2 c.T2C p.M1T 0.894369 0.9772 0.829534 0.8446 0.9815 1 T 0.0 P -0.935 T 0.0 T 0.0 T Pathogenic 15_31369223_C->T 15 31369223 31369223 C T snp 4186.77 1/1 99 149 0 149 1.0 intronic rs4779817 TRPM1 AU NM_001252024 exon26 c.75163+36C>T 0.896765 0.9752 0.8441 0.9817 Uncertain 15_31369258_C->T 15 31369258 31369258 C T snp 2793.77 1/1 99 95 0 95 1.0 intronic rs4779818 TRPM1 AU NM_001252024 exon26 c.75163+71C>T 0.521765 0.7649 Uncertain 15_31373727_T->C 15 31373727 31373727 T C snp 707.77 1/1 51 25 0 25 1.0 intronic rs4779504 TRPM1 AU NM_001252024 exon27 c.79617+86T>C 0.517971 0.7679 Uncertain 15_31452911_G->A 15 31452911 31452911 G A snp 191.77 0/1 99 13 6 7 0.54 intergenic rs12899902 TRPM1 AU 0.341054 0.5804 Uncertain 15_31453056_T->C 15 31453056 31453056 T C snp 2130.77 0/1 99 201 110 91 0.45 intergenic rs12906081 TRPM1 AU 0.341254 0.5804 Uncertain 15_31521506_GG->- 15 31521506 31521507 GG - indel 2845.73 ./1 99 106 7 99 0.93 exonic rs3835087 LOC283710 AU frameshift deletion NM_001243538 exon2 c.75_76del p.P25fs 0.898962 1 0.6704 0.6288 Pathogenic 15_31521506_G->- 15 31521506 31521506 G - indel 2845.73 ./1 99 106 7 99 0.93 exonic rs34406656 LOC283710 AU frameshift deletion NM_001243538 exon2 c.76delC p.R26fs 0.3055 0.3561 Pathogenic 15_31522761_C->G 15 31522761 31522761 C G snp 80.77 0/1 99 6 3 3 0.5 intronic rs2304506 LOC283710 AU NM_001243538 exon4 c.7426-148C>G 0.386781 0.3938 Uncertain 15_31619607_G->A 15 31619607 31619607 G A snp 335.77 0/1 99 34 20 14 0.41 exonic rs11537749 KLF13 AU synonymous SNV NM_001302461 exon1 c.G192A p.V64V 0.179712 0.119 0.4336 0.2576 Uncertain 15_31776004_C->G 15 31776004 31776004 C G snp 292.77 0/1 99 26 14 12 0.46 exonic rs2338682 OTUD7A AU synonymous SNV NM_130901 exon11 c.G2274C p.V758V 0.798922 0.9177 0 . Uncertain 15_31776021_T->C 15 31776021 31776021 T C snp 604.77 1/1 45 18 0 18 1.0 exonic rs2338681 OTUD7A AU nonsynonymous SNV NM_130901 exon11 c.A2257G p.S753G 1 1 0 . 0.71 T 0.0 P -1.003 T 0.0 T 0.0 T Pathogenic 15_31776211_GGC->- 15 31776211 31776213 GGC - indel 2765.73 0/1 99 143 77 66 0.46 exonic rs199744400 OTUD7A AU nonframeshift deletion NM_130901 exon11 c.2065_2067del p.689_689del 0.771366 0.9127 0.678571 0.2447 . ID=COSM231509;OCCURENCE=1(skin),1(thyroid) Uncertain 15_31776370_G->A 15 31776370 31776370 G A snp 2998.77 0/1 99 250 134 116 0.46 exonic rs80021613 OTUD7A AU synonymous SNV NM_130901 exon11 c.C1908T p.I636I 0.00439297 0.0218 0.0017 0.0211 Uncertain 15_31793930_A->G 15 31793930 31793930 A G snp 1233.77 0/1 99 107 48 59 0.55 exonic rs7164569 OTUD7A AU synonymous SNV NM_130901 exon8 c.T1113C p.L371L 0.330871 0.2212 0.392802 0.3349 0.2525 Uncertain 15_31850925_T->C 15 31850925 31850925 T C snp 37.77 0/1 66 4 2 2 0.5 intronic rs8024709 OTUD7A AU NM_130901 exon9 c.75675-246T>C 0.407548 0.6637 Uncertain 15_31862437_C->T 15 31862437 31862437 C T snp 1282.77 0/1 99 85 31 54 0.64 intronic rs12915326 OTUD7A AU NM_130901 exon10 c.86904+37C>T 0.34365 0.2401 0.358637 0.2455 0.2498 Uncertain 15_31862448_C->T 15 31862448 31862448 C T snp 2151.77 1/1 99 77 0 77 1.0 intronic rs1459198 OTUD7A AU NM_130901 exon10 c.86904+48C>T 0.685304 0.9018 0.597523 0.5481 0.9131 Uncertain 15_31862529_G->A 15 31862529 31862529 G A snp 309.77 0/1 99 16 6 10 0.63 intronic rs12898674 OTUD7A AU NM_130901 exon10 c.86904+129G>A 0.34365 0.2401 Uncertain 15_32322929_G->A 15 32322929 32322929 G A snp 462.77 0/1 99 54 34 20 0.37 intronic rs2292571 CHRNA7 AU NM_001190455 exon1 c.142-10G>A 0.091254 0.1607 0.1512 0.2197 Uncertain 15_32393486_-->T 15 32393486 32393486 - T indel 534.73 ./1 99 60 2 58 0.97 intronic rs201765366 CHRNA7 AU NM_000746 exon3 c.70708-19insT 0.3508 0.3013 Uncertain 15_32393486_-->TT 15 32393486 32393486 - TT indel 534.73 ./1 99 60 2 58 0.97 intronic rs201765366 CHRNA7 AU NM_000746 exon3 c.70708-19insTT 0.1967 0.2396 Uncertain 15_32393663_C->A 15 32393663 32393663 C A snp 493.77 1/1 39 16 0 16 1.0 intronic rs28650375 CHRNA7 AU NM_000746 exon3 c.70753+113C>A 0.999601 1 Uncertain 15_32450062_C->T 15 32450062 32450062 C T snp 293.78 1/1 24 10 0 10 1.0 intronic rs199927660 CHRNA7 AU NM_000746 exon6 c.127179+86C>T 0.977835 0.999 Uncertain 15_32450502_T->A 15 32450502 32450502 T A snp 192.8 1/1 21 20 7 13 0.65 intronic rs540860881 CHRNA7 AU NM_000746 exon7 c.127815-110T>A 0.308906 0.3294 Uncertain 15_32450828_C->T 15 32450828 32450828 C T snp 313.77 1/1 33 29 7 22 0.76 intronic rs2611608 CHRNA7 AU NM_000746 exon7 c.128010+21C>T 0.4052 0.4162 Uncertain 15_32460485_C->T 15 32460485 32460485 C T snp 45.77 0/1 74 142 103 39 0.27 exonic rs200301018 CHRNA7 AU synonymous SNV NM_000746 exon10 c.C1335T p.N445N 0.2577 0.3438 Uncertain 15_32620127_G->A 15 32620127 32620127 G A snp 1653.77 0/1 99 197 115 82 0.42 intergenic rs3809581 CHRNA7 AU 0.141973 0.256 Uncertain 15_32926076_C->T 15 32926076 32926076 C T snp 319.78 1/1 24 12 0 12 1.0 intronic rs11632524 ARHGAP11A AU NM_014783 exon10 c.17721-57C>T 0.644968 0.6111 Uncertain 15_32971934_C->T 15 32971934 32971934 C T snp 3499.77 1/1 99 124 0 124 1.0 intronic rs7177843 SCG5 AU NM_003020 exon3 c.36173-32C>T 0.344249 0.5645 0.213514 0.2971 0.5908 Uncertain 15_32984182_G->A 15 32984182 32984182 G A snp 295.77 0/1 99 19 8 11 0.58 intronic rs116925365 SCG5 AU NM_003020 exon5 c.48171+218G>A 0.00479233 0.0188 Uncertain 15_32984196_A->G 15 32984196 32984196 A G snp 380.77 1/1 30 10 0 10 1.0 intronic rs6494593 SCG5 AU NM_003020 exon5 c.48171+232A>G 0.926318 0.9901 Uncertain 15_33010412_G->A 15 33010412 33010412 G A snp 2514.77 0/1 99 201 86 115 0.57 ncRNA_exonic rs2293582 LOC100131315 AU 0.268371 0.5119 0.3212 0.5188 Uncertain 15_33010736_G->A 15 33010736 33010736 G A snp 3149.77 1/1 99 112 0 112 1.0 ncRNA_intronic rs2293581 LOC100131315 AU 0.350439 0.7202 0.2990 0.7692 Uncertain 15_33023098_C->G 15 33023098 33023098 C G snp 1196.77 0/1 99 132 81 51 0.39 exonic rs2280738 GREM1 AU synonymous SNV NM_013372 exon2 c.C207G p.P69P 0.067492 0.2113 0.008614 0.0365 0.2140 Uncertain 15_33096560_A->T 15 33096560 33096560 A T snp 93.77 0/1 99 25 18 7 0.28 intronic rs16959042 FMN1 AU NM_001103184 exon4 c.30023+27A>T 0.166134 0.4663 0.016575 0.1010 0.4548 Uncertain 15_33096663_G->C 15 33096663 33096663 G C snp 153.9 1/1 15 5 0 5 1.0 intronic rs12898436 FMN1 AU NM_001103184 exon4 c.30023+130G>C 1 1 Uncertain 15_33096666_A->G 15 33096666 33096666 A G snp 180.9 1/1 15 5 0 5 1.0 intronic rs12900156 FMN1 AU NM_001103184 exon4 c.30023+133A>G 1 1 Uncertain 15_33191023_A->G 15 33191023 33191023 A G snp 1469.77 0/1 99 158 93 65 0.41 intronic rs173224 FMN1 AU NM_001103184 exon7 c.124524-11A>G 0.657748 0.5129 0.665671 0.5795 0.5151 Uncertain 15_33200825_G->A 15 33200825 33200825 G A snp 34.77 0/1 63 7 5 2 0.29 intronic FMN1 AU NM_001103184 exon10 c.134269+46G>A Uncertain 15_33261055_T->G 15 33261055 33261055 T G snp 30.77 0/1 59 18 14 4 0.22 exonic FMN1 AU synonymous SNV NM_001103184 exon4 c.A2178C p.P726P Uncertain 15_33261121_T->G 15 33261121 33261121 T G snp 35.77 0/1 43 5 2 3 0.6 exonic rs780894630 FMN1 AU synonymous SNV NM_001103184 exon4 c.A2112C p.P704P 0.0270 0 Uncertain 15_33261127_T->G 15 33261127 33261127 T G snp 30.77 0/1 59 6 3 3 0.5 exonic rs777228064 FMN1 AU synonymous SNV NM_001103184 exon4 c.A2106C p.P702P 0.0083 0 Uncertain 15_33261232_G->A 15 33261232 33261232 G A snp 1405.77 1/1 99 54 0 54 1.0 exonic rs2930131 FMN1 AU synonymous SNV NM_001103184 exon4 c.C2001T p.P667P 0.531949 0.7976 0.451906 0.6324 0.8062 Uncertain 15_33261288_G->A 15 33261288 33261288 G A snp 935.77 0/1 99 82 43 39 0.48 exonic rs77531455 FMN1 AU nonsynonymous SNV NM_001103184 exon4 c.C1945T p.P649S 0.014377 0.0486 0.000566 0.0100 0.0667 0.23 T -1.059 T 0.733 T 0.171 P Pathogenic 15_33359574_C->A 15 33359574 33359574 C A snp 4530.77 1/1 99 155 0 155 1.0 exonic rs11858145 FMN1 AU nonsynonymous SNV NM_001103184 exon1 c.G512T p.G171V 0.723243 0.8284 0.632734 0.6954 0.8379 1 T -0.964 T 0.0 T 0.0 T Pathogenic 15_33757840_G->A 15 33757840 33757840 G A snp 209.77 0/1 99 21 11 10 0.48 intronic rs2596163 RYR3 AU NM_001036 exon2 c.162373-7779G>A 0.591653 0.5119 Uncertain 15_33765761_A->G 15 33765761 33765761 A G snp 1076.77 0/1 99 76 36 40 0.53 intronic rs2245508 RYR3 AU NM_001036 exon2 c.162493+22A>G 0.648562 0.5119 0.674795 0.5828 0.5335 Uncertain 15_33795710_A->G 15 33795710 33795710 A G snp 3670.77 1/1 99 128 0 128 1.0 intronic rs2572204 RYR3 AU NM_001036 exon3 c.192585-121A>G 0.972045 1 Uncertain 15_33795775_G->A 15 33795775 33795775 G A snp 2690.77 0/1 99 246 126 120 0.49 intronic rs41279198 RYR3 AU NM_001036 exon3 c.192585-56G>A 0.13778 0.2738 Uncertain 15_33795950_G->A 15 33795950 33795950 G A snp 1025.77 0/1 99 79 42 37 0.47 intronic rs3751634 RYR3 AU NM_001036 exon3 c.192693+11G>A 0.0972444 0.2282 0.057903 0.1098 0.2944 Uncertain 15_33840414_A->G 15 33840414 33840414 A G snp 1484.77 1/1 99 57 0 57 1.0 intronic rs1435100 RYR3 AU NM_001036 exon9 c.237159+9A>G 0.796326 0.5357 0.898123 0.8261 0.5640 Uncertain 15_33842222_C->G 15 33842222 33842222 C G snp 516.77 1/1 39 14 0 14 1.0 intronic rs1865496 RYR3 AU NM_001036 exon10 c.239114-138C>G 0.621006 0.4871 Uncertain 15_33842260_G->A 15 33842260 33842260 G A snp 768.77 0/1 99 43 13 30 0.7 intronic rs2304381 RYR3 AU NM_001036 exon10 c.239114-100G>A 0.194888 0.2073 Uncertain 15_33855138_T->C 15 33855138 33855138 T C snp 1233.77 0/1 99 110 53 57 0.52 exonic rs2304380 RYR3 AU nonsynonymous SNV NM_001036 exon11 c.T1073C p.I358T 0.01877 0.0893 0.000083 0.0061 0.0800 0.02 T 0.663 D -0.289 T 0.034 T 0.033 T Pathogenic 15_33855345_G->A 15 33855345 33855345 G A snp 182.9 1/1 15 6 0 6 1.0 intronic rs2304379 RYR3 AU NM_001036 exon11 c.251965+134G>A 0.602835 0.4891 Uncertain 15_33872177_C->T 15 33872177 33872177 C T snp 2274.77 1/1 99 86 1 85 0.99 exonic rs674155 RYR3 AU synonymous SNV NM_001036 exon13 c.C1269T p.S423S 0.604233 0.5437 0.684279 0.7143 0.5276 Uncertain 15_33873657_C->T 15 33873657 33873657 C T snp 3851.77 1/1 99 143 0 143 1.0 intronic rs668570 RYR3 AU NM_001036 exon14 c.270462-51C>T 0.76897 0.7232 Uncertain 15_33876449_G->A 15 33876449 33876449 G A snp 1694.77 1/1 99 50 0 50 1.0 intronic rs10431811 RYR3 AU NM_001036 exon15 c.273349-146G>A 0.465056 0.6002 Uncertain 15_33876517_A->G 15 33876517 33876517 A G snp 5143.77 1/1 99 193 0 193 1.0 intronic rs2643364 RYR3 AU NM_001036 exon15 c.273349-78A>G 0.797923 0.8472 Uncertain 15_33876543_C->T 15 33876543 33876543 C T snp 6340.77 1/1 99 243 0 243 1.0 intronic rs624954 RYR3 AU NM_001036 exon15 c.273349-52C>T 0.80012 0.8433 0.796361 Uncertain 15_33893769_C->T 15 33893769 33893769 C T snp 2999.77 1/1 99 110 0 110 1.0 intronic rs2437135 RYR3 AU NM_001036 exon17 c.290507+16C>T 0.727636 0.9365 0.650619 0.6682 0.9439 Uncertain 15_33893828_C->G 15 33893828 33893828 C G snp 2016.77 1/1 99 78 0 78 1.0 intronic rs3829479 RYR3 AU NM_001036 exon17 c.290507+75C>G 0.727835 0.9365 Uncertain 15_33905410_A->G 15 33905410 33905410 A G snp 1077.77 0/1 99 84 40 44 0.52 exonic rs2229116 RYR3 AU nonsynonymous SNV NM_001036 exon19 c.A2191G p.I731V 0.202077 0.1587 0.189544 0.2300 0.1644 0.53 T 0.037 P -1.035 T 0.0 T 0.001 T ID=CM1010498;DIS=Carotid intima-media thicknesses, in HIV, association with;TAG=DP;PUB=20009918 DP Pathogenic 15_33923237_C->A 15 33923237 33923237 C A snp 611.77 1/1 45 21 0 21 1.0 intronic rs28696769 RYR3 AU NM_001036 exon23 c.320164-173C>A 0.150559 0.131 Uncertain 15_33925364_G->A 15 33925364 33925364 G A snp 3068.77 1/1 99 99 0 99 1.0 intronic rs2291732 RYR3 AU NM_001036 exon24 c.322063+55G>A 0.747005 0.6647 Uncertain 15_33927764_C->T 15 33927764 33927764 C T snp 776.77 1/1 57 28 0 28 1.0 intronic rs1495280 RYR3 AU NM_001036 exon26 c.324568-50C>T 0.576278 0.6528 0.483387 Uncertain 15_33928500_G->A 15 33928500 33928500 G A snp 657.77 1/1 48 22 0 22 1.0 intronic rs2291734 RYR3 AU NM_001036 exon27 c.325330-76G>A 0.153355 0.1319 Uncertain 15_33938396_A->T 15 33938396 33938396 A T snp 83.77 0/1 67 5 2 3 0.6 intronic rs8031151 RYR3 AU NM_001036 exon29 c.335305-155A>T 0.757987 0.6815 Uncertain 15_33939495_C->T 15 33939495 33939495 C T snp 494.77 0/1 99 62 37 25 0.4 intronic rs2291736 RYR3 AU NM_001036 exon30 c.336378-129C>T 0.219449 0.3036 Uncertain 15_33939710_T->C 15 33939710 33939710 T C snp 743.77 0/1 99 78 47 31 0.4 intronic rs199872680 RYR3 AU NM_001036 exon30 c.336415+49T>C 0.000998403 0.005 0.0002 0.0030 Uncertain 15_33951910_T->C 15 33951910 33951910 T C snp 1192.77 0/1 99 119 67 52 0.44 intronic rs2279662 RYR3 AU NM_001036 exon33 c.348674-10T>C 0.227835 0.2877 0.183405 0.1926 0.3132 Uncertain 15_33954652_C->T 15 33954652 33954652 C T snp 2077.77 0/1 99 176 95 81 0.46 exonic rs4780144 RYR3 AU nonsynonymous SNV NM_001036 exon35 c.C4921T p.R1641C 0.838259 0.9246 0.868129 0.9339 0.9282 0.05 T 0.996 P -1.004 T 0.99 D 0.582 D Pathogenic 15_33962559_G->C 15 33962559 33962559 G C snp 478.77 0/1 99 40 22 18 0.45 intronic rs11072596 RYR3 AU NM_001036 exon38 c.359373-60G>C 0.661142 0.6984 Uncertain 15_33990250_G->A 15 33990250 33990250 G A snp 895.77 1/1 66 27 0 27 1.0 intronic rs1111611 RYR3 AU NM_001036 exon40 c.386951+53G>A 0.99401 1 Uncertain 15_33991716_A->G 15 33991716 33991716 A G snp 495.77 1/1 39 13 0 13 1.0 intronic rs1495277 RYR3 AU NM_001036 exon41 c.388658-188A>G 0.926318 1 Uncertain 15_33993320_G->A 15 33993320 33993320 G A snp 1155.77 0/1 99 83 35 48 0.58 intronic rs2280419 RYR3 AU NM_001036 exon42 c.390035+39G>A 0.339657 0.3393 0.333627 0.3493 0.3845 Uncertain 15_34014913_C->T 15 34014913 34014913 C T snp 1567.77 1/1 99 67 0 67 1.0 splicing rs2293028 RYR3 AU NM_001036 exon44 c.411669-2C>T 0.40635 0.5933 0.282852 0.3263 0.5939 Pathogenic 15_34016274_G->A 15 34016274 34016274 G A snp 1403.77 1/1 99 45 0 45 1.0 exonic rs6495228 RYR3 AU nonsynonymous SNV NM_001036 exon45 c.G6809A p.G2270E 0.88099 0.9851 0.853357 0.8625 0.9814 0.8 T 0.0 P -0.943 T 0.0 T 0.0 T Pathogenic 15_34020914_T->G 15 34020914 34020914 T G snp 152.77 0/1 99 15 7 8 0.53 intronic rs28460434 RYR3 AU NM_001036 exon47 c.417811-143T>G 0.188498 0.3085 Uncertain 15_34028651_T->C 15 34028651 34028651 T C snp 150.77 0/1 99 10 5 5 0.5 intronic rs12909708 RYR3 AU NM_001036 exon49 c.425280+125T>C 0.140375 0.3075 Uncertain 15_34028669_G->C 15 34028669 34028669 G C snp 125.78 0/1 27 5 1 4 0.8 intronic rs8041430 RYR3 AU NM_001036 exon49 c.425280+143G>C 0.764377 0.8532 Uncertain 15_34030887_A->G 15 34030887 34030887 A G snp 1718.77 1/1 99 58 0 58 1.0 intronic rs12907197 RYR3 AU NM_001036 exon50 c.427545+96A>G 0.427516 0.4623 Uncertain 15_34030904_C->T 15 34030904 34030904 C T snp 568.77 0/1 99 37 16 21 0.57 intronic rs56011633 RYR3 AU NM_001036 exon50 c.427545+113C>T 0.147564 0.1677 Uncertain 15_34032131_G->A 15 34032131 34032131 G A snp 2573.77 0/1 99 191 85 106 0.55 exonic rs41279212 RYR3 AU synonymous SNV NM_001036 exon51 c.G7755A p.T2585T 0.234026 0.1647 0.189712 0.1889 0.1854 Uncertain 15_34032225_G->C 15 34032225 34032225 G C snp 1690.77 0/1 99 121 54 67 0.55 intronic rs61219904 RYR3 AU NM_001036 exon51 c.428950+29G>C 0.234026 0.1647 0.190049 0.1883 0.1862 Uncertain 15_34038511_A->G 15 34038511 34038511 A G snp 646.77 1/1 48 19 0 19 1.0 intronic rs3812937 RYR3 AU NM_001036 exon53 c.435112+153A>G 0.687101 0.8562 Uncertain 15_34040496_G->A 15 34040496 34040496 G A snp 367.77 0/1 99 27 11 16 0.59 intronic rs1565936 RYR3 AU NM_001036 exon54 c.437215+35G>A 0.122204 0.2411 0.084396 0.1191 0.2454 Uncertain 15_34047053_T->C 15 34047053 34047053 T C snp 111.77 0/1 99 7 3 4 0.57 intronic rs72715125 RYR3 AU NM_001036 exon58 c.444019-212T>C 0.186901 0.1518 Uncertain 15_34060740_C->T 15 34060740 34060740 C T snp 2343.77 1/1 99 72 0 72 1.0 intronic rs2278317 RYR3 AU NM_001036 exon61 c.457612-118C>T 0.684105 0.7758 Uncertain 15_34064043_T->C 15 34064043 34064043 T C snp 1833.77 1/1 99 58 0 58 1.0 intronic rs1429754 RYR3 AU NM_001036 exon63 c.460874-77T>C 0.998802 1 Uncertain 15_34065658_-->T 15 34065658 34065658 - T indel 412.73 0/1 99 58 34 24 0.41 intronic rs3086242 RYR3 AU NM_001036 exon64 c.462488-76insT 0.223842 0.1419 Uncertain 15_34065922_T->G 15 34065922 34065922 T G snp 386.77 0/1 99 23 9 14 0.61 intronic rs533116857 RYR3 AU NM_001036 exon64 c.462570+106T>G 0.000998403 0.005 Uncertain 15_34094048_G->T 15 34094048 34094048 G T snp 216.77 0/1 99 32 22 10 0.31 intronic rs35048413 RYR3 AU NM_001036 exon69 c.490823-21G>T 0.361621 0.3651 0.371292 0.4710 0.5274 Uncertain 15_34094201_C->T 15 34094201 34094201 C T snp 2634.77 0/1 99 250 141 109 0.44 intronic rs2115747 RYR3 AU NM_001036 exon69 c.490916+39C>T 0.362021 0.3651 0.374895 0.4212 0.4537 Uncertain 15_34094451_A->G 15 34094451 34094451 A G snp 34.77 0/1 63 5 3 2 0.4 intronic rs2115748 RYR3 AU NM_001036 exon69 c.490916+289A>G 0.357827 0.3641 Uncertain 15_34099501_A->G 15 34099501 34099501 A G snp 180.77 0/1 99 13 6 7 0.54 intronic rs2879435 RYR3 AU NM_001036 exon70 c.496509-254A>G 0.28155 0.2014 Uncertain 15_34099822_G->A 15 34099822 34099822 G A snp 1261.77 0/1 99 89 41 48 0.54 intronic rs2879436 RYR3 AU NM_001036 exon70 c.496524+52G>A 0.261382 0.2798 0.209657 Uncertain 15_34103272_C->G 15 34103272 34103272 C G snp 1332.77 1/1 99 43 0 43 1.0 intronic rs4780181 RYR3 AU NM_001036 exon72 c.499992+34C>G 0.85024 0.9484 0.803501 0.8326 0.9531 Uncertain 15_34103398_T->A 15 34103398 34103398 T A snp 50.74 1/1 6 2 0 2 1.0 intronic rs7170964 RYR3 AU NM_001036 exon72 c.499992+160T>A 0.497204 0.6696 Uncertain 15_34109269_G->T 15 34109269 34109269 G T snp 50.74 1/1 6 2 0 2 1.0 intronic rs2288610 RYR3 AU NM_001036 exon75 c.505913+110G>T 0.688498 0.7351 Uncertain 15_34110759_A->G 15 34110759 34110759 A G snp 677.77 0/1 99 70 38 32 0.46 intronic rs2288612 RYR3 AU NM_001036 exon76 c.507532-19A>G 0.0980431 0.1458 0.083020 0.1164 0.1319 Uncertain 15_34112825_C->T 15 34112825 34112825 C T snp 1902.77 1/1 99 58 0 58 1.0 intronic rs1036005 RYR3 AU NM_001036 exon78 c.509710-131C>T 0.742412 0.7361 Uncertain 15_34112865_G->A 15 34112865 34112865 G A snp 3142.77 1/1 99 108 1 107 0.99 intronic rs1036006 RYR3 AU NM_001036 exon78 c.509710-91G>A 0.740615 0.7361 Uncertain 15_34112906_C->A 15 34112906 34112906 C A snp 3815.77 1/1 99 142 0 142 1.0 intronic rs1036007 RYR3 AU NM_001036 exon78 c.509710-50C>A 0.742612 0.7371 0.697008 Uncertain 15_34113054_G->A 15 34113054 34113054 G A snp 2606.77 1/1 99 94 0 94 1.0 intronic rs3815965 RYR3 AU NM_001036 exon78 c.509767+41G>A 0.742212 0.7371 0.691833 0.7018 0.7559 Uncertain 15_34113455_T->- 15 34113455 34113455 T - indel 2521.73 1/1 99 78 0 78 1.0 intronic rs35254800 RYR3 AU NM_001036 exon79 c.510224-15delT 0.7042 0.7725 Uncertain 15_34113536_A->G 15 34113536 34113536 A G snp 3393.77 1/1 99 130 0 130 1.0 exonic rs2288614 RYR3 AU synonymous SNV NM_001036 exon79 c.A10881G p.A3627A 0.738818 0.7381 0.692164 0.6884 0.7654 Uncertain 15_34115088_C->T 15 34115088 34115088 C T snp 777.77 1/1 57 24 0 24 1.0 intronic rs8032198 RYR3 AU NM_001036 exon81 c.511950-108C>T 0.769569 0.7679 Uncertain 15_34118994_-->AG 15 34118994 34118994 - AG indel 7746.73 1/1 99 143 0 143 1.0 intronic rs4041449 RYR3 AU NM_001036 exon84 c.515707+41insAG 0.915671 0.9414 0.6951 Uncertain 15_34119121_A->C 15 34119121 34119121 A C snp 37.77 0/1 66 6 4 2 0.33 intronic rs62016698 RYR3 AU NM_001036 exon84 c.515707+168A>C 0.279752 0.2877 Uncertain 15_34129357_C->T 15 34129357 34129357 C T snp 2104.77 1/1 99 61 0 61 1.0 intronic rs7182398 RYR3 AU NM_001036 exon88 c.525942+169C>T 0.643371 0.6438 Uncertain 15_34132867_C->T 15 34132867 34132867 C T snp 1044.77 0/1 99 76 37 39 0.51 intronic rs11639042 RYR3 AU NM_001036 exon90 c.529779-158C>T 0.213458 0.1815 Uncertain 15_34133130_A->G 15 34133130 34133130 A G snp 1184.77 0/1 99 76 34 42 0.55 intronic rs3764232 RYR3 AU NM_001036 exon90 c.529838+46A>G 0.607228 0.369 0.607243 0.5707 0.3527 Uncertain 15_34135826_G->A 15 34135826 34135826 G A snp 2242.77 1/1 99 71 0 71 1.0 intronic rs2303868 RYR3 AU NM_001036 exon92 c.532529+51G>A 0.822883 0.6538 0.866953 Uncertain 15_34136971_T->C 15 34136971 34136971 T C snp 604.77 1/1 45 19 0 19 1.0 intronic rs7181900 RYR3 AU NM_001036 exon93 c.533816-91T>C 0.981829 1 Uncertain 15_34137292_C->G 15 34137292 34137292 C G snp 1122.77 1/1 84 33 0 33 1.0 intronic rs12899715 RYR3 AU NM_001036 exon93 c.534017+29C>G 0.488818 0.4266 0.560487 0.6324 0.4217 Uncertain 15_34140735_A->G 15 34140735 34140735 A G snp 576.77 1/1 42 22 0 22 1.0 intronic rs2278314 RYR3 AU NM_001036 exon94 c.537376+113A>G 0.864816 0.7073 Uncertain 15_34145444_T->A 15 34145444 34145444 T A snp 292.78 1/1 24 8 0 8 1.0 intronic rs721400 RYR3 AU NM_001036 exon95 c.542042+156T>A 0.58746 0.4821 Uncertain 15_34146783_G->A 15 34146783 34146783 G A snp 3279.77 1/1 99 107 0 107 1.0 intronic rs2303308 RYR3 AU NM_001036 exon97 c.543404+133G>A 0.475439 0.4196 Uncertain 15_34146886_T->C 15 34146886 34146886 T C snp 3561.77 1/1 99 117 0 117 1.0 intronic rs713201 RYR3 AU NM_001036 exon98 c.543720-80T>C 0.916134 0.9931 Uncertain 15_34146922_C->T 15 34146922 34146922 C T snp 5710.77 1/1 99 195 0 195 1.0 intronic rs713203 RYR3 AU NM_001036 exon98 c.543720-44C>T 0.885982 0.9931 0.823471 0.8638 0.9911 Uncertain 15_34151668_G->C 15 34151668 34151668 G C snp 2502.77 1/1 99 84 0 84 1.0 intronic rs7180084 RYR3 AU NM_001036 exon100 c.548529-107G>C 0.902955 0.9931 Uncertain 15_34152777_T->A 15 34152777 34152777 T A snp 4720.77 1/1 99 172 0 172 1.0 intronic rs2303310 RYR3 AU NM_001036 exon101 c.549549-18T>A 0.478634 0.4226 0.577448 0.6793 0.4983 Uncertain 15_34156284_C->G 15 34156284 34156284 C G snp 2416.77 1/1 99 86 0 86 1.0 intronic rs11072759 RYR3 AU NM_001036 exon103 c.553092-54C>G 0.473243 0.4028 0.574814 Uncertain 15_34156312_T->C 15 34156312 34156312 T C snp 2369.77 1/1 99 86 0 86 1.0 intronic rs11072760 RYR3 AU NM_001036 exon103 c.553092-26T>C 0.509385 0.4077 0.611471 0.6728 0.4251 Uncertain 15_34437863_A->G 15 34437863 34437863 A G snp 348.78 1/1 27 10 0 10 1.0 intronic rs4780222 KATNBL1 AU NM_024713 exon2 c.3153+171A>G 0.974441 1 Uncertain 15_34441102_C->T 15 34441102 34441102 C T snp 913.77 1/1 66 28 0 28 1.0 intronic rs6495551 KATNBL1 AU NM_024713 exon6 c.6412+151C>T 0.966853 1 Uncertain 15_34446955_C->T 15 34446955 34446955 C T snp 664.77 0/1 99 42 18 24 0.57 intronic rs77111922 KATNBL1 AU NM_024713 exon8 c.12346+70C>T 0.0948482 0.0268 0.135366 Uncertain 15_34446998_G->T 15 34446998 34446998 G T snp 180.77 0/1 99 12 6 6 0.5 intronic rs77782763 KATNBL1 AU NM_024713 exon8 c.12346+113G>T 0.0948482 0.0268 Uncertain 15_34528948_G->A 15 34528948 34528948 G A snp 3131.77 1/1 99 121 1 120 0.99 exonic rs4577050 SLC12A6 AR synonymous SNV NM_133647 exon22 c.C3003T p.L1001L 0.572085 0.6657 0.595630 0.6510 0.6805 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000147486.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 15_34537435_C->T 15 34537435 34537435 C T snp 1555.77 1/1 99 58 0 58 1.0 intronic rs4371122 SLC12A6 AR NM_001042497 exon12 c.11404-50C>T 0.967053 1 0.961379 0.9893 1 Uncertain 15_34543055_G->A 15 34543055 34543055 G A snp 2818.77 1/1 99 85 0 85 1.0 intronic rs10851964 SLC12A6 AR NM_001042497 exon16 c.17018-44G>A 0.572883 0.6667 0.594784 0.6512 0.6804 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000147477.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 15_34543298_-->A 15 34543298 34543298 - A indel 1221.73 1/1 99 68 1 67 0.99 intronic rs11382535 SLC12A6 AR NM_001042497 exon16 c.17177+40insA 0.849441 0.8948 0.8383 0.8784 Uncertain 15_34550118_C->T 15 34550118 34550118 C T snp 178.9 1/1 15 5 0 5 1.0 intronic rs2705350 SLC12A6 AR NM_001042497 exon21 c.23908+129C>T 0.882188 1 Uncertain 15_34640218_C->T 15 34640218 34640218 C T snp 7322.77 1/1 99 249 1 248 1.0 exonic rs374230 NUTM1 AU nonsynonymous SNV NM_001284293 exon2 c.C119T p.P40L 0.877796 1 0.870826 0.9635 0.9999 0.64 T 0.0 P -0.975 T 0.001 T 0.002 T Pathogenic 15_34640378_T->C 15 34640378 34640378 T C snp 7345.77 1/1 99 249 0 249 1.0 exonic rs430083 NUTM1 AU synonymous SNV NM_001284293 exon2 c.T279C p.D93D 0.939696 1 0.944915 0.9844 0.9999 Uncertain 15_34640959_G->A 15 34640959 34640959 G A snp 548.77 1/1 42 14 0 14 1.0 intronic rs371061 NUTM1 AU NM_175741 exon3 c.2658+81G>A 0.998802 1 Uncertain 15_34643103_A->G 15 34643103 34643103 A G snp 1870.77 1/1 99 68 0 68 1.0 intronic rs347796 NUTM1 AU NM_175741 exon4 c.4813+70A>G 0.958267 1 Uncertain 15_34653914_T->C 15 34653914 34653914 T C snp 133.03 1/1 12 4 0 4 1.0 intronic rs35483472 LPCAT4 AU NM_153613 exon4 c.2406+181T>C 0.640375 0.8075 Uncertain 15_34654339_-->TCTCTC 15 34654339 34654339 - TCTCTC indel 10069.7 ./1 99 157 0 157 1.0 intronic rs10626628 LPCAT4 AU NM_153613 exon5 c.3069-57insTCTCTC 0.25 0.255 Uncertain 15_34654339_-->TCTC 15 34654339 34654339 - TCTC indel 10069.7 ./1 99 157 0 157 1.0 intronic rs10626628 LPCAT4 AU NM_153613 exon5 c.3069-57insTCTC 0.38139 0.4514 Uncertain 15_34655092_T->C 15 34655092 34655092 T C snp 727.77 1/1 54 25 0 25 1.0 intronic rs2339434 LPCAT4 AU NM_153613 exon7 c.3710+55T>C 0.810703 0.8135 Uncertain 15_34656524_T->C 15 34656524 34656524 T C snp 677.77 1/1 51 18 0 18 1.0 intronic rs6495665 LPCAT4 AU NM_153613 exon11 c.5180+17T>C 0.217053 0.2827 0.158409 0.1649 0.2864 Uncertain 15_34657589_A->G 15 34657589 34657589 A G snp 123.03 1/1 12 4 0 4 1.0 intronic rs4984237 LPCAT4 AU NM_153613 exon12 c.6102+160A>G 0.678514 0.8125 Uncertain 15_34673722_C->T 15 34673722 34673722 C T snp 325.77 0/1 99 41 16 25 0.61 exonic rs347877 GOLGA8A AU nonsynonymous SNV NM_181077 exon16 c.G1702A p.V568I 0.5264 0.5891 1 T 0.0 P -0.961 T 0.001 T 0.001 T Pathogenic 15_34673827_G->A 15 34673827 34673827 G A snp 36.77 0/1 65 19 12 7 0.37 intronic rs347878 GOLGA8A AU NM_181077 exon1 c.203+13G>A 0.110423 0.2361 0.0005 0.0008 Uncertain 15_34781272_A->T 15 34781272 34781272 A T snp 2391.77 1/1 99 88 0 88 1.0 intergenic rs3812939 GOLGA8A AU 0.243211 0.2738 Uncertain 15_34781807_T->A 15 34781807 34781807 T A snp 522.77 1/1 39 18 0 18 1.0 intergenic rs8033870 GOLGA8A AU 0.254393 0.2748 Uncertain 15_34781815_C->T 15 34781815 34781815 C T snp 508.77 1/1 39 17 0 17 1.0 intergenic rs8028789 GOLGA8A AU 0.254393 0.2748 Uncertain 15_34782508_A->C 15 34782508 34782508 A C snp 778.77 1/1 57 24 0 24 1.0 intergenic rs12593353 GOLGA8A AU 0.229233 0.3224 Uncertain 15_34825132_C->G 15 34825132 34825132 C G snp 35.74 1/1 6 53 38 15 0.28 exonic rs199645647 GOLGA8B AU nonsynonymous SNV NM_001023567 exon3 c.G200C p.R67P 0.7017 0.8272 0.14 T 0.000 P -1.033 T 0.0 T 0.0 T Pathogenic 15_35045057_G->A 15 35045057 35045057 G A snp 2167.77 0/1 99 147 62 85 0.58 exonic rs3743123 GJD2 AU synonymous SNV NM_020660 exon2 c.C588T p.S196S 0.308906 0.255 0.308432 0.3207 0.2518 ID=CM041873;DIS=Myoclonic epilepsy, juvenile, association with;TAG=DP;PUB=15235036 DP Uncertain 15_35045312_T->A 15 35045312 35045312 T A snp 2029.77 0/1 99 186 101 85 0.46 exonic rs651724 GJD2 AU synonymous SNV NM_020660 exon2 c.A333T p.T111T 0.567692 0.4067 0.656870 0.6506 0.4248 Uncertain 15_35046816_T->A 15 35046816 35046816 T A snp 384.77 0/1 99 39 25 14 0.36 upstream rs2277558 GJD2 AU 0.385383 0.5952 Uncertain 15_35083509_CACACACACACACACA->- 15 35083509 35083524 CACACACACACACACA - indel 2508.73 ./1 99 56 0 56 1.0 ncRNA_intronic rs201456215 LOC101928174 AU Uncertain 15_35083508_-->CACA 15 35083508 35083508 - CACA indel 2508.73 ./1 99 56 0 56 1.0 ncRNA_intronic rs59431308 LOC101928174 AU Uncertain 15_35149008_C->T 15 35149008 35149008 C T snp 4778.77 1/1 99 180 0 180 1.0 exonic rs8035240 AQR AU synonymous SNV NM_014691 exon35 c.G4443A p.P1481P 0.977436 1 0.973886 0.9925 1 Uncertain 15_35168056_C->T 15 35168056 35168056 C T snp 351.78 1/1 27 13 0 13 1.0 intronic rs2290321 AQR AU NM_014691 exon8 c.19143-79C>T 0.35623 0.3185 Uncertain 15_35185807_-->GCAC 15 35185807 35185807 - GCAC indel 964.73 1/1 49 26 2 24 0.92 intronic rs552071481 AQR AU NM_014691 exon13 c.36871-56insGCAC Uncertain 15_35185810_-->CG 15 35185810 35185810 - CG indel 970.73 1/1 44 34 3 31 0.91 intronic rs773330522 AQR AU NM_014691 exon13 c.36871-53insCG Uncertain 15_35196492_C->T 15 35196492 35196492 C T snp 139.03 1/1 12 4 0 4 1.0 intronic rs12898639 AQR AU NM_014691 exon17 c.47544-44C>T 0.579673 0.6062 0.621275 0.6758 0.6300 Uncertain 15_35207397_C->G 15 35207397 35207397 C G snp 2028.77 1/1 99 64 0 64 1.0 intronic rs2044920 AQR AU NM_014691 exon20 c.58388+17C>G 0.7502 0.6171 0.808746 0.7958 0.6313 Uncertain 15_35230924_A->G 15 35230924 35230924 A G snp 2185.77 1/1 99 80 0 80 1.0 intronic rs12594085 AQR AU NM_014691 exon27 c.81945-13A>G 0.357428 0.3204 0.430217 0.5160 0.3274 Uncertain 15_35230934_-->TAGT 15 35230934 35230934 - TAGT indel 5443.73 1/1 99 78 0 78 1.0 splicing rs10701045 AQR AU NM_014691 exon27 c.81945-3insTAGT 0.730032 0.624 0.774695 0.7902 0.6393 Pathogenic 15_35231184_A->G 15 35231184 35231184 A G snp 56.74 1/1 6 2 0 2 1.0 intronic rs3816447 AQR AU NM_014691 exon27 c.82022+170A>G 0.52476 0.6071 Uncertain 15_35252767_G->A 15 35252767 35252767 G A snp 1118.77 1/1 81 38 0 38 1.0 intronic rs11636350 AQR AU NM_014691 exon33 c.103982-207G>A 0.577676 0.627 Uncertain 15_35256624_C->G 15 35256624 35256624 C G snp 1866.77 1/1 99 68 0 68 1.0 intronic rs9920529 AQR AU NM_014691 exon34 c.107499+133C>G 0.700879 0.6349 0.8091 0.6578 Uncertain 15_35261649_A->G 15 35261649 35261649 A G snp 6453.77 1/1 99 247 2 245 0.99 intronic rs7164169 AQR AU NM_014691 exon35 c.112747-90A>G 0.625599 0.6359 Uncertain 15_35261952_C->T 15 35261952 35261952 C T snp 93.28 1/1 9 3 0 3 1.0 UTR5 rs7164070 AQR AU Uncertain 15_35664298_C->G 15 35664298 35664298 C G snp 59.74 1/1 6 3 0 3 1.0 UTR3 rs3759846 DPH6 AU 0.309305 0.2887 0.3138 0.3120 Uncertain 15_35664407_A->- 15 35664407 35664407 A - indel 317.73 0/1 99 26 11 15 0.58 splicing rs141638132 DPH6 AU NM_080650 exon1 c.54+3delA 0.352236 0.2966 0.4557 0.485 ID=COSM1735875;OCCURENCE=1(central_nervous_system) Pathogenic 15_35674184_T->G 15 35674184 35674184 T G snp 386.77 0/1 99 25 11 14 0.56 intronic rs80019930 DPH6 AU NM_080650 exon3 c.9767+67T>G 0.28754 0.2887 Uncertain 15_35703269_G->C 15 35703269 35703269 G C snp 218.77 0/1 99 23 14 9 0.39 intronic rs16960864 DPH6 AU NM_080650 exon4 c.38747+172G>C 0.271166 0.2837 Uncertain 15_35834547_T->C 15 35834547 35834547 T C snp 3389.77 1/1 99 130 0 130 1.0 intronic rs1020307 DPH6 AU NM_001141972 exon3 c.20320-66T>C 0.633187 0.8274 Uncertain 15_36218926_T->A 15 36218926 36218926 T A snp 92.28 1/1 9 3 0 3 1.0 upstream rs62005169 MIR4510 AU 0.916534 0.994 Uncertain 15_36218930_T->A 15 36218930 36218930 T A snp 135.03 1/1 12 4 0 4 1.0 upstream rs1532477 MIR4510 AU 0.868411 0.9444 Uncertain 15_36218934_T->A 15 36218934 36218934 T A snp 248.8 1/1 21 7 0 7 1.0 upstream rs1532476 MIR4510 AU 0.656949 0.754 Uncertain 15_36219169_A->- 15 36219169 36219169 A - indel 147.5 0/1 3 23 2 21 0.91 downstream rs559594573 MIR4510 AU 0 . Uncertain 15_36871957_C->T 15 36871957 36871957 C T snp 1026.77 0/1 99 88 47 41 0.47 UTR5 rs3743337 C15orf41 AR 0.477636 0.4296 Uncertain 15_36937405_G->T 15 36937405 36937405 G T snp 2021.77 1/1 99 76 0 76 1.0 intronic rs11073191 C15orf41 AR NM_001130010 exon3 c.65362-18G>T 0.958067 1 0.953938 0.9555 1 Uncertain 15_36937606_A->C 15 36937606 36937606 A C snp 356.78 1/1 27 12 0 12 1.0 intronic rs11073192 C15orf41 AR NM_001130010 exon3 c.65427+118A>C 0.958666 1 Uncertain 15_36946153_G->A 15 36946153 36946153 G A snp 2899.77 1/1 99 104 0 104 1.0 intronic rs10220771 C15orf41 AR NM_001130010 exon4 c.74237-145G>A 0.942492 1 Uncertain 15_36946303_C->G 15 36946303 36946303 C G snp 1796.77 0/1 99 161 81 80 0.5 exonic rs3784678 C15orf41 AR nonsynonymous SNV NM_001130010 exon4 c.C217G p.L73V 0.497005 0.6815 0.439833 0.5352 0.6709 0.16 T 1.0 P -0.913 T 0.879 T 0.503 P Pathogenic 15_36946441_C->T 15 36946441 36946441 C T snp 377.77 1/1 30 14 0 14 1.0 intronic rs10220785 C15orf41 AR NM_001130010 exon4 c.74298+82C>T 0.958067 1 Uncertain 15_36949952_T->A 15 36949952 36949952 T A snp 1929.77 1/1 99 63 0 63 1.0 intronic rs6495863 C15orf41 AR NM_001130010 exon5 c.77972-81T>A 0.958466 1 Uncertain 15_36984409_T->C 15 36984409 36984409 T C snp 3041.77 1/1 99 106 0 106 1.0 intronic rs3743338 C15orf41 AR NM_032499 exon8 c.34322+33T>C 0.560903 0.621 0.554863 0.6019 0.6940 Uncertain 15_36989469_G->A 15 36989469 36989469 G A snp 2869.77 1/1 99 105 0 105 1.0 intronic rs2381887 C15orf41 AR NM_032499 exon9 c.39469-54G>A 0.838059 0.9534 0.766242 Uncertain 15_37026565_A->G 15 37026565 37026565 A G snp 218.77 0/1 99 29 17 12 0.41 intronic rs1037439 C15orf41 AR NM_001290233 exon11 c.167074-12570A>G 0.286941 0.3353 0.2200 0.2885 Uncertain 15_37026601_T->- 15 37026601 37026601 T - indel 132.73 0/1 40 15 5 10 0.67 intronic rs397854326 C15orf41 AR NM_001290233 exon11 c.167074-12534delT 0.239217 0.3264 0.1730 0.3049 Uncertain 15_37110637_T->C 15 37110637 37110637 T C snp 1324.77 1/1 96 44 0 44 1.0 ncRNA_exonic rs1194621 CSNK1A1P1 AU 0.98722 1 Uncertain 15_37173119_-->T 15 37173119 37173119 - T indel 3180.74 1/1 99 98 0 98 1.0 ncRNA_intronic rs55752602 LOC145845 AU 0.390775 0.3373 Uncertain 15_37173147_T->G 15 37173147 37173147 T G snp 3175.77 1/1 99 116 0 116 1.0 ncRNA_intronic rs12909623 LOC145845 AU 0.40016 0.372 Uncertain 15_37173267_G->A 15 37173267 37173267 G A snp 3364.77 1/1 99 129 0 129 1.0 ncRNA_intronic rs12903788 LOC145845 AU 0.391973 0.3383 0.4319 0.2803 Uncertain 15_37173945_A->G 15 37173945 37173945 A G snp 99.28 1/1 9 3 0 3 1.0 ncRNA_intronic rs4451907 LOC145845 AU 0.267971 0.3552 Uncertain 15_37242441_A->- 15 37242441 37242441 A - indel 649.73 1/1 68 33 2 31 0.94 intronic rs11293336 MEIS2 AU NM_002399 exon5 c.55570-83delA 0.514776 0.5585 Uncertain 15_37387971_C->T 15 37387971 37387971 C T snp 729.77 0/1 99 52 21 31 0.6 intronic rs3751544 MEIS2 AU NM_002399 exon10 c.200861+156C>T 0.414736 0.3859 Uncertain 15_38230566_G->- 15 38230566 38230566 G - indel 2247.73 1/1 99 57 0 57 1.0 intronic rs398026892 TMCO5A AU NM_152453 exon6 c.1906+136delG 1 1 Uncertain 15_38233223_T->C 15 38233223 38233223 T C snp 305.77 0/1 99 16 5 11 0.69 intronic rs1021796 TMCO5A AU NM_152453 exon7 c.4825-126T>C 0.434704 0.2401 Uncertain 15_38233869_T->C 15 38233869 38233869 T C snp 4450.77 1/1 99 159 1 158 0.99 splicing rs2937991 TMCO5A AU NM_152453 exon8 c.5347-2T>C 0.957668 1 0.953594 0.9871 1 Pathogenic 15_38234301_T->C 15 38234301 38234301 T C snp 451.77 0/1 99 22 7 15 0.68 intronic rs72723044 TMCO5A AU NM_152453 exon9 c.5867-90T>C 0.117812 0.0962 Uncertain 15_38235521_T->A 15 38235521 38235521 T A snp 1706.77 0/1 99 150 75 75 0.5 intronic rs12443282 TMCO5A AU NM_152453 exon10 c.7017-20T>A 0.205471 0.1617 0.200862 0.2120 0.1809 Uncertain 15_38240025_AA->- 15 38240025 38240026 AA - indel 1495.73 0/1 99 60 27 33 0.55 intronic rs112503245 TMCO5A AU NM_152453 exon11 c.11373+128_11373+129delAA 0.205671 0.1617 Uncertain 15_38258772_A->C 15 38258772 38258772 A C snp 1578.77 0/1 99 127 62 65 0.51 intergenic rs2959336 TMCO5A AU 0.613618 0.7817 Uncertain 15_38590722_T->G 15 38590722 38590722 T G snp 1030.77 1/1 75 39 0 39 1.0 intronic rs8040553 SPRED1 AD NM_152594 exon2 c.46187-851T>G 0.911741 1 0.9793 1 Uncertain 15_38590750_AGAA->- 15 38590750 38590753 AGAA - indel 1310.73 0/1 99 59 35 24 0.41 intronic rs77635204 SPRED1 AD NM_152594 exon2 c.46187-823_46187-820delAGAA 0.211462 0.5327 0.1415 0.5379 Uncertain 15_38590771_A->G 15 38590771 38590771 A G snp 542.77 0/1 99 64 37 27 0.42 intronic rs8036280 SPRED1 AD NM_152594 exon2 c.46187-802A>G 0.802316 0.8026 0.8486 0.8246 Uncertain 15_38590854_G->A 15 38590854 38590854 G A snp 792.77 0/1 99 85 51 34 0.4 intronic rs8034630 SPRED1 AD NM_152594 exon2 c.46187-719G>A 0.802516 0.8026 Uncertain 15_38614525_G->A 15 38614525 38614525 G A snp 1359.77 0/1 99 133 73 60 0.45 exonic rs7182445 SPRED1 AD synonymous SNV NM_152594 exon3 c.G291A p.K97K 0.80012 0.8026 0.825843 0.8637 0.7906 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=Legius_syndrome|not_specified;CLNREVSTAT=no_assertion_criteria_provided|criteria_provided\x2c_multiple_submitters\x2c_no_conflicts;CLNACC=RCV000034273.2|RCV000041241.5;CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet|MedGen;CLNDSDBID=NBK47312:C1969623:611431:ORPHA137605|CN169374 Uncertain 15_38617115_C->G 15 38617115 38617115 C G snp 409.77 1/1 30 17 0 17 1.0 intronic rs1879937 SPRED1 AD NM_152594 exon4 c.71624+105C>G 0.954073 1 Uncertain 15_38631840_T->C 15 38631840 38631840 T C snp 609.77 0/1 99 58 34 24 0.41 intronic rs7163339 SPRED1 AD NM_152594 exon5 c.86551-97T>C 0.799321 0.8026 CLINSIG=non-pathogenic;CLNDBN=Legius_syndrome;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000034275.2;CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet;CLNDSDBID=NBK47312:C1969623:611431:ORPHA137605 Uncertain 15_38631930_C->A 15 38631930 38631930 C A snp 1563.77 0/1 99 146 79 67 0.46 intronic rs7180446 SPRED1 AD NM_152594 exon5 c.86551-7C>A 0.799321 0.8026 0.825458 0.8637 0.7903 CLINSIG=non-pathogenic,non-pathogenic;CLNDBN=Legius_syndrome,not_specified;CLNREVSTAT=no_assertion_criteria_provided,criteria_provided\x2c_multiple_submitters\x2c_no_conflicts;CLNACC=RCV000034274.2,RCV000041243.5;CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet,MedGen;CLNDSDBID=NBK47312:C1969623:611431:ORPHA137605,CN169374 Uncertain 15_38632148_A->G 15 38632148 38632148 A G snp 1079.77 1/1 81 34 0 34 1.0 intronic rs7181472 SPRED1 AD NM_152594 exon5 c.86710+52A>G 0.909545 1 0.906909 0.9747 0.9998 Uncertain 15_38641774_A->T 15 38641774 38641774 A T snp 231.77 0/1 99 46 34 12 0.26 intronic rs200338097 SPRED1 AD NM_152594 exon6 c.96338+50A>T 0.000399361 0.001 0.0055 0.0148 CLINSIG=unknown;CLNDBN=not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000034342.4;CLNDSDB=MedGen;CLNDSDBID=CN221809 Uncertain 15_38641777_G->A 15 38641777 38641777 G A snp 189.77 0/1 99 44 34 10 0.23 intronic rs114258866 SPRED1 AD NM_152594 exon6 c.96338+53G>A Uncertain 15_38643031_C->T 15 38643031 38643031 C T snp 217.77 0/1 99 16 7 9 0.56 intronic rs12914722 SPRED1 AD NM_152594 exon7 c.97828-183C>T 0.798922 0.8026 Uncertain 15_38643574_T->C 15 38643574 38643574 T C snp 2565.77 0/1 99 228 124 104 0.46 exonic rs3751526 SPRED1 AD synonymous SNV NM_152594 exon7 c.T1044C p.V348V 0.799521 0.8026 0.825381 0.8637 0.7909 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=Legius_syndrome|not_specified;CLNREVSTAT=no_assertion_criteria_provided|criteria_provided\x2c_multiple_submitters\x2c_no_conflicts;CLNACC=RCV000034272.2|RCV000041236.5;CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet|MedGen;CLNDSDBID=NBK47312:C1969623:611431:ORPHA137605|CN169374 Uncertain 15_38762701_A->G 15 38762701 38762701 A G snp 686.77 1/1 51 24 0 24 1.0 intronic rs7162389 FAM98B AU NM_173611 exon4 c.16244+95A>G 0.323283 0.5367 Uncertain 15_38776330_T->G 15 38776330 38776330 T G snp 407.77 1/1 33 11 0 11 1.0 intronic rs61409403 FAM98B AU NM_173611 exon8 c.30093-125T>G 0.313898 0.4325 Uncertain 15_38792549_G->T 15 38792549 38792549 G T snp 262.8 1/1 21 7 0 7 1.0 intronic rs12904148 RASGRP1 AU NM_001128602 exon4 c.9586+209G>T 0.680911 0.7183 Uncertain 15_38798246_T->C 15 38798246 38798246 T C snp 1738.77 1/1 99 61 0 61 1.0 intronic rs4465567 RASGRP1 AU NM_001128602 exon7 c.15367+125T>C 0.429513 0.7143 Uncertain 15_38804020_-->A 15 38804020 38804020 - A indel 1188.73 1/1 87 30 0 30 1.0 intronic rs11413668 RASGRP1 AU NM_001128602 exon9 c.21167+99insA 0.579673 0.7202 Uncertain 15_38804104_C->A 15 38804104 38804104 C A snp 216.84 1/1 18 6 0 6 1.0 intronic rs6495977 RASGRP1 AU NM_001128602 exon9 c.21167+183C>A 0.688498 0.7202 Uncertain 15_39545032_T->G 15 39545032 39545032 T G snp 54.74 1/1 6 2 0 2 1.0 UTR3 rs156783 C15orf54 AU 0.972843 0.997 Uncertain 15_39876062_-->AT 15 39876062 39876062 - AT indel 805.73 0/1 99 47 29 18 0.38 intronic rs3830465 THBS1 AU NM_003246 exon5 c.2130-126insAT 0.39357 0.3135 Uncertain 15_39876412_C->T 15 39876412 39876412 C T snp 2041.77 0/1 99 158 80 78 0.49 intronic rs7170682 THBS1 AU NM_003246 exon5 c.2330+24C>T 0.299521 0.3006 0.247576 0.1729 0.3249 Uncertain 15_39879517_C->T 15 39879517 39879517 C T snp 2023.77 0/1 99 195 105 90 0.46 intronic rs2664141 THBS1 AU NM_003246 exon8 c.5489-30C>T 0.397364 0.3065 0.411113 0.3047 0.3345 Uncertain 15_39879717_G->A 15 39879717 39879717 G A snp 1048.77 0/1 99 111 69 42 0.38 exonic rs2229364 THBS1 AU synonymous SNV NM_003246 exon8 c.G1290A p.K430K 0.163339 0.2897 0.113129 0.1482 0.3285 Uncertain 15_39880358_C->T 15 39880358 39880358 C T snp 2034.77 0/1 99 153 67 86 0.56 exonic rs2228261 THBS1 AU synonymous SNV NM_003246 exon9 c.C1410T p.N470N 0.266773 0.2897 0.217947 0.1635 0.3124 Uncertain 15_39880822_A->G 15 39880822 39880822 A G snp 346.77 0/1 99 44 29 15 0.34 exonic rs2292305 THBS1 AU nonsynonymous SNV NM_003246 exon10 c.A1567G p.T523A 0.274561 0.3056 0.224642 0.1689 0.3255 0.9 T 0.003 P -0.991 T 0.0 T 0.0 T ID=CM1413695;DIS=Autism, reduced risk, association with;TAG=DP;PUB=25304225 DP Pathogenic 15_39880941_G->T 15 39880941 39880941 G T snp 174.77 0/1 99 16 9 7 0.44 intronic rs2292304 THBS1 AU NM_003246 exon10 c.6842+41G>T 0.0405351 0.1796 0.000462 0.0187 0.2084 Uncertain 15_39887848_G->A 15 39887848 39887848 G A snp 529.77 0/1 99 27 10 17 0.63 UTR3 rs3743125 THBS1 AU 0.165136 0.2907 0.1944 0.3434 Uncertain 15_39910052_C->G 15 39910052 39910052 C G snp 2687.77 0/1 99 221 111 110 0.5 exonic rs16969386 FSIP1 AU nonsynonymous SNV NM_152597 exon11 c.G1583C p.G528A 0.157348 0.2907 0.104433 0.1416 0.3227 0.227 P -0.920 T 0.999 D 0.965 D Pathogenic 15_39910404_G->A 15 39910404 39910404 G A snp 593.77 0/1 99 38 13 25 0.66 exonic rs12908846 FSIP1 AU nonsynonymous SNV NM_152597 exon11 c.C1231T p.L411F 0.157348 0.2907 0.103036 0.1430 0.3224 0.953 P -1.032 T 1.0 D 0.999 D Pathogenic 15_39910431_A->G 15 39910431 39910431 A G snp 357.77 0/1 99 22 8 14 0.64 exonic rs10152640 FSIP1 AU nonsynonymous SNV NM_152597 exon11 c.T1204C p.C402R 0.411941 0.3095 0.414246 0.3145 0.3475 0.0 P -1.043 T 0.0 T 0.0 T Pathogenic 15_40030440_G->A 15 40030440 40030440 G A snp 825.77 0/1 99 83 44 39 0.47 intronic rs1906163 FSIP1 AU NM_152597 exon5 c.137322+38G>A 0.449481 0.2798 0.564201 0.4676 0.2895 Uncertain 15_40031715_C->T 15 40031715 40031715 C T snp 133.03 1/1 12 4 0 4 1.0 intronic rs8033687 FSIP1 AU NM_152597 exon6 c.138785-150C>T 0.779153 0.7183 Uncertain 15_40034182_C->T 15 40034182 40034182 C T snp 350.28 0/1 9 15 1 14 0.93 intronic rs72727074 FSIP1 AU NM_152597 exon7 c.141021+81C>T 0.0970447 0.251 Uncertain 15_40099769_T->C 15 40099769 40099769 T C snp 1480.77 0/1 99 131 63 68 0.52 exonic rs66490630 GPR176 AU nonsynonymous SNV NM_001271854 exon2 c.A230G p.K77R 0.11222 0.1746 0.0911 0.1818 Pathogenic 15_40212050_G->A 15 40212050 40212050 G A snp 1216.77 0/1 99 91 38 53 0.58 splicing rs80137374 GPR176 AU NM_007223 exon3 c.118723-5G>A 0.117212 0.3026 0.053442 0.1655 0.4141 Pathogenic 15_40226294_A->G 15 40226294 40226294 A G snp 303.77 0/1 99 14 5 9 0.64 upstream rs508281 EIF2AK4 AR 0.613818 0.8502 Uncertain 15_40226495_T->C 15 40226495 40226495 T C snp 6616.77 1/1 99 245 0 245 1.0 exonic rs566792 EIF2AK4 AR synonymous SNV NM_001013703 exon1 c.T99C p.I33I 0.960064 1 0.898616 0.9112 1 Uncertain 15_40232001_C->A 15 40232001 40232001 C A snp 113.77 0/1 99 8 4 4 0.5 intronic rs500200 EIF2AK4 AR NM_001013703 exon2 c.5422+183C>A 0.525559 0.8046 Uncertain 15_40248122_G->A 15 40248122 40248122 G A snp 43.77 0/1 72 4 2 2 0.5 intronic rs8030025 EIF2AK4 AR NM_001013703 exon6 c.21573+153G>A 0.28774 0.1677 Uncertain 15_40253886_G->A 15 40253886 40253886 G A snp 147.77 0/1 99 13 7 6 0.46 intronic rs17720964 EIF2AK4 AR NM_001013703 exon7 c.27588-98G>A 0.0954473 0.0565 Uncertain 15_40254155_A->G 15 40254155 40254155 A G snp 3067.77 1/1 99 97 0 97 1.0 intronic rs510949 EIF2AK4 AR NM_001013703 exon7 c.27704+55A>G 0.844249 0.7788 Uncertain 15_40265799_A->G 15 40265799 40265799 A G snp 5575.77 1/1 99 199 0 199 1.0 exonic rs2307105 EIF2AK4 AR nonsynonymous SNV NM_001013703 exon11 c.A1667G p.E556G 0.844449 0.7788 0.942670 0.8883 0.7785 0.64 T 0.002 P -0.963 T 0.0 T 0.0 T Pathogenic 15_40268998_-->GACGAC 15 40268998 40268998 - GACGAC indel 5342.73 0/1 99 148 59 89 0.6 exonic rs377237751 EIF2AK4 AR nonframeshift insertion NM_001013703 exon12 c.2202_2203insGACGAC p.E734delinsEDD 0.0898562 0.0585 0.082226 0.1065 0.0742 ID=COSM1372591;OCCURENCE=1(large_intestine) Uncertain 15_40269052_G->A 15 40269052 40269052 G A snp 1079.77 0/1 99 92 46 46 0.5 intronic rs34298786 EIF2AK4 AR NM_001013703 exon12 c.42649+7G>A 0.287141 0.1706 0.336137 0.3298 0.1698 Uncertain 15_40269102_-->T 15 40269102 40269102 - T indel 446.73 0/1 99 49 21 28 0.57 intronic rs149792847 EIF2AK4 AR NM_001013703 exon12 c.42649+57insT 0.282149 0.1687 Uncertain 15_40269126_-->TTCC 15 40269126 40269126 - TTCC indel 542.73 0/1 99 25 7 18 0.72 intronic rs10649761 EIF2AK4 AR NM_001013703 exon12 c.42649+81insTTCC 0.44389 0.5347 Uncertain 15_40270214_A->G 15 40270214 40270214 A G snp 1090.77 1/1 78 40 0 40 1.0 intronic rs7174071 EIF2AK4 AR NM_001013703 exon13 c.43882-64A>G 0.990415 1 0.989264 Uncertain 15_40282625_T->C 15 40282625 40282625 T C snp 2723.77 1/1 99 83 0 83 1.0 intronic rs4144472 EIF2AK4 AR NM_001013703 exon16 c.56182+47T>C 0.948283 1 0.957849 0.9871 0.9999 Uncertain 15_40284523_C->T 15 40284523 40284523 C T snp 621.77 0/1 99 53 28 25 0.47 intronic rs7178419 EIF2AK4 AR NM_001013703 exon17 c.58034+93C>T 0.623802 0.6964 Uncertain 15_40284802_C->T 15 40284802 40284802 C T snp 175.77 0/1 99 11 5 6 0.55 intronic rs11070241 EIF2AK4 AR NM_001013703 exon18 c.58573-167C>T 0.625 0.6964 Uncertain 15_40285120_A->G 15 40285120 40285120 A G snp 810.77 0/1 99 64 35 29 0.45 intronic rs11633992 EIF2AK4 AR NM_001013703 exon18 c.58653+71A>G 0.701078 0.7024 Uncertain 15_40291140_C->T 15 40291140 40291140 C T snp 139.03 1/1 12 4 0 4 1.0 intronic rs2412457 EIF2AK4 AR NM_001013703 exon20 c.64589+155C>T 1 1 Uncertain 15_40293037_AAT->- 15 40293037 40293039 AAT - indel 614.73 0/1 99 22 9 13 0.59 intronic rs72248603 EIF2AK4 AR NM_001013703 exon21 c.66792-151_66792-149delAAT 0.249601 0.244 Uncertain 15_40299016_C->T 15 40299016 40299016 C T snp 310.77 0/1 99 16 5 11 0.69 intronic rs2291623 EIF2AK4 AR NM_001013703 exon24 c.72820-200C>T 0.209864 0.2748 Uncertain 15_40300092_T->C 15 40300092 40300092 T C snp 510.77 1/1 39 14 0 14 1.0 intronic rs2279581 EIF2AK4 AR NM_001013703 exon25 c.73831-135T>C 0.807708 0.5565 Uncertain 15_40300214_G->C 15 40300214 40300214 G C snp 2602.77 0/1 99 218 115 103 0.47 intronic rs2279580 EIF2AK4 AR NM_001013703 exon25 c.73831-13G>C 0.380192 0.2976 0.350638 0.3932 0.3035 Uncertain 15_40300443_T->G 15 40300443 40300443 T G snp 794.77 0/1 99 55 24 31 0.56 intronic rs2279579 EIF2AK4 AR NM_001013703 exon25 c.74000+47T>G 0.277955 0.247 0.329451 0.3366 0.2525 Uncertain 15_40313083_G->T 15 40313083 40313083 G T snp 1353.77 1/1 99 39 0 39 1.0 intronic rs12916520 EIF2AK4 AR NM_001013703 exon31 c.86703-16G>T 0.868211 0.7063 0.938578 0.9189 0.6858 Uncertain 15_40313141_C->T 15 40313141 40313141 C T snp 711.77 0/1 99 75 46 29 0.39 exonic rs3207297 EIF2AK4 AR synonymous SNV NM_001013703 exon31 c.C4215T p.G1405G 0.305112 0.249 0.355471 0.3459 0.2525 Uncertain 15_40314967_C->G 15 40314967 40314967 C G snp 90.28 1/1 9 3 0 3 1.0 intronic rs8030856 EIF2AK4 AR NM_001013703 exon32 c.88410+161C>G 0.569688 0.6706 Uncertain 15_40322460_C->T 15 40322460 40322460 C T snp 571.77 0/1 99 44 21 23 0.52 intronic rs2307101 EIF2AK4 AR NM_001013703 exon35 c.96163-99C>T 0.0722843 0.1825 Uncertain 15_40322552_G->T 15 40322552 40322552 G T snp 820.77 0/1 99 88 51 37 0.42 intronic rs2250402 EIF2AK4 AR NM_001013703 exon35 c.96163-7G>T 0.905551 0.8105 0.930306 0.9144 0.7729 Uncertain 15_40324481_T->C 15 40324481 40324481 T C snp 2578.77 0/1 99 227 114 113 0.5 intronic rs4432245 EIF2AK4 AR NM_001013703 exon36 c.98042+43T>C 0.262181 0.4633 0.087929 0.1406 0.4609 Uncertain 15_40324729_G->A 15 40324729 40324729 G A snp 179.9 1/1 15 6 0 6 1.0 intronic rs2291622 EIF2AK4 AR NM_001013703 exon37 c.98561-228G>A 0.266174 0.4633 Uncertain 15_40324837_C->T 15 40324837 40324837 C T snp 1765.77 1/1 99 60 0 60 1.0 intronic rs2291621 EIF2AK4 AR NM_001013703 exon37 c.98561-120C>T 0.90655 0.7966 Uncertain 15_40327290_A->G 15 40327290 40327290 A G snp 375.77 0/1 99 31 13 18 0.58 UTR3 rs4594236 EIF2AK4 AR 0.268171 0.4653 0.093814 0.1431 0.4589 Uncertain 15_40327301_G->A 15 40327301 40327301 G A snp 418.77 0/1 99 31 13 18 0.58 UTR3 rs2898985 EIF2AK4 AR 0.309704 0.4643 0.132943 0.1545 0.4582 Uncertain 15_40328575_G->C 15 40328575 40328575 G C snp 4807.77 1/1 99 172 0 172 1.0 exonic rs7535 SRP14 AU nonsynonymous SNV NM_003134 exon5 c.C370G p.P124A 0.880591 0.7966 0.908119 0.9044 0.7634 1 T 0.000 P -0.985 T 0.0 T 0.0 T Pathogenic 15_40328665_G->A 15 40328665 40328665 G A snp 1582.77 0/1 99 115 55 60 0.52 exonic rs8208 SRP14 AU synonymous SNV NM_003134 exon5 c.C280T p.L94L 0.457867 0.2728 0.606234 0.6117 0.2622 Uncertain 15_40328973_A->G 15 40328973 40328973 A G snp 170.77 0/1 99 16 9 7 0.44 intronic rs2291620 SRP14 AU NM_003134 exon2 c.653-213A>G 0.261182 0.254 Uncertain 15_40329033_A->G 15 40329033 40329033 A G snp 2485.77 1/1 99 77 0 77 1.0 intronic rs2291619 SRP14 AU NM_003134 exon2 c.653-153A>G 0.904952 0.7966 0.9208 0.7634 Uncertain 15_40330564_C->T 15 40330564 40330564 C T snp 3088.77 1/1 99 114 0 114 1.0 exonic rs7321 SRP14 AU synonymous SNV NM_003134 exon3 c.G129A p.K43K 0.887181 0.7609 0.930929 0.9103 0.7369 Uncertain 15_40330629_C->T 15 40330629 40330629 C T snp 1677.77 0/1 99 164 87 77 0.47 intronic rs8041057 SRP14 AU NM_003134 exon3 c.2062+34C>T 0.454673 0.2738 0.617301 0.6116 0.2626 Uncertain 15_40330693_C->T 15 40330693 40330693 C T snp 3012.77 1/1 99 116 1 115 0.99 intronic rs937215 SRP14 AU NM_003134 exon3 c.2062+98C>T 0.897364 0.7917 Uncertain 15_40397936_G->T 15 40397936 40397936 G T snp 278.77 0/1 99 35 22 13 0.37 intronic rs539846 BMF AU NM_033503 exon3 c.14008-59G>T 0.526558 0.8026 Uncertain 15_40453307_A->G 15 40453307 40453307 A G snp 775.77 0/1 99 82 46 36 0.44 UTR5 rs2277559 BUB1B AU,AD,AR 0.613019 0.3492 Uncertain 15_40453497_G->A 15 40453497 40453497 G A snp 684.77 0/1 99 59 28 31 0.53 intronic rs2277560 BUB1B AU,AD,AR NM_001211 exon1 c.35+41G>A 0.349641 0.2728 0.399092 0.4563 0.2470 Uncertain 15_40457129_A->C 15 40457129 40457129 A C snp 68.77 0/1 97 8 5 3 0.38 intronic rs3214012 BUB1B AU,AD,AR NM_001211 exon2 c.3832-124A>C 0.633187 0.3492 Uncertain 15_40465905_T->A 15 40465905 40465905 T A snp 55.77 0/1 84 10 7 3 0.3 intronic rs11636402 BUB1B AU,AD,AR NM_001211 exon5 c.15256-2772T>A 0.634185 0.3502 Uncertain 15_40477831_G->A 15 40477831 40477831 G A snp 1372.77 0/1 99 92 39 53 0.58 exonic rs1801376 BUB1B AU,AD,AR nonsynonymous SNV NM_001211 exon8 c.G1046A p.R349Q 0.628195 0.3462 0.735968 0.6566 0.3177 1 T 0.000 P -0.980 T 0.0 T 0.0 T CLINSIG=untested;CLNDBN=not_specified;CLNREVSTAT=no_assertion_provided;CLNACC=RCV000120431.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 ID=CM062484;DIS=Leukemia, risk, association with;TAG=DP;PUB=16574953 DP Pathogenic 15_40491952_A->G 15 40491952 40491952 A G snp 350.77 0/1 99 43 28 15 0.35 intronic rs2172742 BUB1B AU,AD,AR NM_001211 exon10 c.38507+24A>G 0.35004 0.2698 0.416397 0.4905 0.2527 Uncertain 15_40494952_A->T 15 40494952 40494952 A T snp 1130.77 0/1 99 81 36 45 0.56 intronic rs2412482 BUB1B AU,AD,AR NM_001211 exon14 c.41474+57A>T 0.628594 0.3472 Uncertain 15_40494960_A->C 15 40494960 40494960 A C snp 1043.77 0/1 99 69 33 36 0.52 intronic rs12898804 BUB1B AU,AD,AR NM_001211 exon14 c.41474+65A>C 0.348642 0.2698 Uncertain 15_40500986_C->T 15 40500986 40500986 C T snp 382.77 0/1 99 49 30 19 0.39 intronic rs11630664 BUB1B AU,AD,AR NM_001211 exon16 c.47550+15C>T 0.396965 0.2827 0.466708 0.4916 0.2417 Uncertain 15_40509600_A->G 15 40509600 40509600 A G snp 43.77 0/1 72 4 2 2 0.5 intronic rs2290551 BUB1B AU,AD,AR NM_001211 exon21 c.56275-96A>G 0.349241 0.2698 Uncertain 15_40556375_C->T 15 40556375 40556375 C T snp 48.74 1/1 6 2 0 2 1.0 intronic rs79914249 PAK6 AU 0.154153 0.4692 Uncertain 15_40556503_C->T 15 40556503 40556503 C T snp 547.77 1/1 42 14 0 14 1.0 intronic rs1075505 PAK6 AU 0.327276 0.6141 Uncertain 15_40556685_A->G 15 40556685 40556685 A G snp 5899.77 1/1 99 219 1 218 1.0 intronic rs7162809 PAK6 AU 0.785543 0.8492 0.7828 0.8765 Uncertain 15_40556713_T->C 15 40556713 40556713 T C snp 6011.77 1/1 99 222 0 222 1.0 intronic rs12902461 PAK6 AU 0.785543 0.8492 Uncertain 15_40557268_C->A 15 40557268 40557268 C A snp 56.74 1/1 6 2 0 2 1.0 intronic rs936216 PAK6 AU NM_020168 exon4 c.204+78C>A 0.660942 0.8075 Uncertain 15_40558087_G->A 15 40558087 40558087 G A snp 7220.77 1/1 99 250 0 250 1.0 exonic rs2016902 PAK6 AU synonymous SNV NM_001276717 exon3 c.G249A p.S83S 0.157348 0.4673 0.026848 0.0824 0.4850 Uncertain 15_40565705_G->A 15 40565705 40565705 G A snp 5576.77 1/1 99 206 1 205 1.0 intronic rs936214 PAK6 AU NM_020168 exon8 c.8687+32G>A 0.203874 0.4792 0.113255 0.1542 0.5006 Uncertain 15_40573675_G->T 15 40573675 40573675 G T snp 553.77 1/1 42 27 1 26 0.96 exonic rs12440450 ANKRD63 AU synonymous SNV NM_001190479 exon1 c.C1113A p.T371T 0.326478 0.5972 0.3418 0.6667 Uncertain 15_40573716_A->G 15 40573716 40573716 A G snp 1393.77 1/1 99 50 0 50 1.0 exonic rs4924446 ANKRD63 AU nonsynonymous SNV NM_001190479 exon1 c.T1072C p.S358P 0.997005 1 0.9998 1 1 T 0.000 P -0.927 T Pathogenic 15_40576487_C->T 15 40576487 40576487 C T snp 936.77 1/1 69 31 0 31 1.0 intergenic rs4257181 ANKRD63 AU 0.147963 0.5536 Uncertain 15_40581543_T->C 15 40581543 40581543 T C snp 5213.77 1/1 99 194 0 194 1.0 exonic rs936212 PLCB2 AU nonsynonymous SNV NM_001284298 exon30 c.A3239G p.E1080G 0.147764 0.5575 0.003904 0.0804 0.6185 0.31 T 1.000 P -0.906 T 0.019 T 0.022 T Pathogenic 15_40582129_AGAGAGAG->- 15 40582129 40582136 AGAGAGAG - indel 4555.73 1/1 99 60 0 60 1.0 intronic PLCB2 AU NM_001284297 exon3 c.1310-96_1310-89delAGAGAGAG Uncertain 15_40582167_A->T 15 40582167 40582167 A T snp 2769.77 0/1 99 133 20 113 0.85 intronic rs62021887 PLCB2 AU NM_001284297 exon3 c.1310-58A>T 0.961462 0.995 Uncertain 15_40582169_A->T 15 40582169 40582169 A T snp 3064.77 1/1 29 135 14 121 0.9 intronic rs8036867 PLCB2 AU NM_001284297 exon3 c.1310-56A>T 0.961462 0.995 Uncertain 15_40583093_A->G 15 40583093 40583093 A G snp 296.78 1/1 24 9 0 9 1.0 intronic rs2412506 PLCB2 AU NM_001284297 exon5 c.2123+55A>G 0.940495 0.9296 0.954446 Uncertain 15_40583107_T->G 15 40583107 40583107 T G snp 157.9 1/1 15 5 0 5 1.0 intronic rs117658605 PLCB2 AU NM_001284297 exon5 c.2123+69T>G 0.323882 0.5952 Uncertain 15_40583458_A->G 15 40583458 40583458 A G snp 1928.77 1/1 99 73 0 73 1.0 intronic rs936209 PLCB2 AU NM_001284297 exon7 c.2550-7A>G 0.940695 0.9296 0.963645 0.9800 0.9257 Uncertain 15_40583876_T->G 15 40583876 40583876 T G snp 3494.77 1/1 99 125 0 125 1.0 intronic rs9972418 PLCB2 AU NM_001284297 exon8 c.2936+25T>G 0.96905 1 0.971744 0.9919 1 Uncertain 15_40589002_A->G 15 40589002 40589002 A G snp 4877.77 1/1 99 172 0 172 1.0 exonic rs2229691 PLCB2 AU synonymous SNV NM_001284297 exon14 c.T1431C p.T477T 0.355232 0.6736 0.211172 0.3172 0.7187 Uncertain 15_40589218_C->G 15 40589218 40589218 C G snp 128.03 1/1 12 5 0 5 1.0 intronic rs2305650 PLCB2 AU NM_001284297 exon19 c.8194+109C>G 0.310104 0.6002 Uncertain 15_40589830_G->A 15 40589830 40589830 G A snp 3922.77 1/1 99 144 0 144 1.0 intronic rs2305649 PLCB2 AU NM_001284297 exon20 c.8891+24G>A 0.69369 0.7857 0.592764 0.5957 0.8233 Uncertain 15_40590134_G->A 15 40590134 40590134 G A snp 3439.77 1/1 99 125 0 125 1.0 exonic rs2229690 PLCB2 AU synonymous SNV NM_001284297 exon12 c.C1182T p.S394S 0.690495 0.7887 0.585181 0.5818 0.8281 Uncertain 15_40590868_G->A 15 40590868 40590868 G A snp 1809.77 0/1 99 191 109 82 0.43 exonic rs756911216 PLCB2 AU nonsynonymous SNV NM_001284297 exon10 c.C892T p.P298S 5.808e-05 0.0006 0.02 T 0.980 N -0.990 T 0.634 T 0.378 P Pathogenic 15_40593939_C->T 15 40593939 40593939 C T snp 1314.77 1/1 96 40 0 40 1.0 intronic rs2305647 PLCB2 AU NM_001284299 exon1 c.18+129C>T 0.79992 0.9147 Uncertain 15_40595414_G->C 15 40595414 40595414 G C snp 2550.77 1/1 99 90 0 90 1.0 intronic rs1869902 PLCB2 AU NM_001284297 exon30 c.14573-74G>C 0.908147 0.9901 Uncertain 15_40595627_G->A 15 40595627 40595627 G A snp 1792.77 1/1 99 61 0 61 1.0 intronic rs1869901 PLCB2 AU NM_001284297 exon30 c.14642+70G>A 0.635783 0.7728 Uncertain 15_40629317_T->A 15 40629317 40629317 T A snp 99.28 1/1 9 3 0 3 1.0 intronic rs748245 C15orf52 AU NM_207380 exon5 c.2230-271T>A 0.73143 0.4236 Uncertain 15_40629954_G->T 15 40629954 40629954 G T snp 669.77 0/1 99 67 35 32 0.48 exonic rs777497835 C15orf52 AU synonymous SNV NM_207380 exon6 c.C786A p.R262R 8.867e-06 0.0001 Uncertain 15_40632302_G->C 15 40632302 40632302 G C snp 1538.77 0/1 99 156 85 71 0.46 intronic rs12440659 C15orf52 AU NM_207380 exon10 c.4858+86G>C 0.785743 0.8452 Uncertain 15_40633301_A->C 15 40633301 40633301 A C snp 162.79 0/1 22 7 2 5 0.71 upstream rs34567466 C15orf52 AU 0.116414 0.1081 Uncertain 15_40645312_GT->- 15 40645312 40645313 GT - indel 390.37 1/1 8 16 1 15 0.94 intronic PHGR1 AU Uncertain 15_40645345_T->C 15 40645345 40645345 T C snp 100.77 0/1 99 19 14 5 0.26 intronic rs61508200 PHGR1 AU Uncertain 15_40645347_T->C 15 40645347 40645347 T C snp 136.77 0/1 99 20 14 6 0.3 intronic rs11853293 PHGR1 AU 0.397564 0.7242 Uncertain 15_40646521_T->- 15 40646521 40646521 T - indel 2173.73 1/1 99 73 1 72 0.99 intronic rs398026946 PHGR1 AU NM_001145643 exon2 c.10+1053delT 0.7265 0.8323 Uncertain 15_40648366_CCATGGTCCAGGGCCCTGCGGGCCACCCCCTGG->- 15 40648366 40648398 CCATGGTCCAGGGCCCTGCGGGCCACCCCCTGG - indel 8322.73 0/1 99 147 15 132 0.9 exonic rs781724729 PHGR1 AU nonframeshift deletion NM_001145643 exon3 c.111_143del p.37_48del 0.203848 0.0418 0.0256 Uncertain 15_40648405_C->T 15 40648405 40648405 C T snp 134.77 0/1 99 165 151 14 0.08 exonic rs9707826 PHGR1 AU synonymous SNV NM_001145643 exon3 c.C150T p.G50G 0.0091 0.0132 Uncertain 15_40655845_C->G 15 40655845 40655845 C G snp 4433.77 1/1 99 159 0 159 1.0 exonic rs1898883 DISP2 AU nonsynonymous SNV NM_033510 exon2 c.C139G p.P47A 0.726038 0.8274 0.662233 0.7131 0.8616 1 T 0.000 P -1.003 T 0.0 T 0.0 T Pathogenic 15_40655873_G->C 15 40655873 40655873 G C snp 4183.77 1/1 99 157 0 157 1.0 exonic rs1898882 DISP2 AU nonsynonymous SNV NM_033510 exon2 c.G167C p.C56S 0.613618 0.8085 0.484853 0.5384 0.8384 0.6 T 0.912 P -1.063 T 0.0 T 0.005 T Pathogenic 15_40659476_G->A 15 40659476 40659476 G A snp 1606.77 0/1 99 163 93 70 0.43 exonic rs35043215 DISP2 AU nonsynonymous SNV NM_033510 exon8 c.G1163A p.G388E 0.101837 0.1171 0.054821 0.1027 0.1054 0.99 T 0.0 P -0.951 T 0.002 T 0.005 T Pathogenic 15_40660515_G->A 15 40660515 40660515 G A snp 1701.77 0/1 99 138 68 70 0.51 exonic rs35565646 DISP2 AU synonymous SNV NM_033510 exon8 c.G2202A p.P734P 0.16254 0.1349 0.175963 0.1468 0.1326 Uncertain 15_40661007_C->T 15 40661007 40661007 C T snp 2915.77 0/1 99 227 106 121 0.53 exonic rs191641179 DISP2 AU synonymous SNV NM_033510 exon8 c.C2694T p.G898G 0.000798722 0.004 0.0003 0.0042 Uncertain 15_40662669_C->T 15 40662669 40662669 C T snp 110.77 0/1 99 11 7 4 0.36 UTR3 rs3803360 DISP2 AU 0.162939 0.1349 Uncertain 15_40662748_G->A 15 40662748 40662748 G A snp 983.77 0/1 99 66 29 37 0.56 UTR3 rs3803359 DISP2 AU 0.163538 0.1349 Uncertain 15_40683780_G->A 15 40683780 40683780 G A snp 1329.77 0/1 99 103 49 54 0.52 intronic rs2289332 KNSTRN AU NM_001142761 exon7 c.8719+25G>A 0.574681 0.6766 0.571775 0.5971 0.7328 Uncertain 15_40699940_T->C 15 40699940 40699940 T C snp 1373.77 1/1 99 49 0 49 1.0 intronic rs2289331 IVD AR NM_002225 exon2 c.1907+14T>C 0.647963 0.7768 0.595571 0.6838 0.8193 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000079997.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 15_40700006_-->TT 15 40700006 40700006 - TT indel 823.73 1/1 51 18 0 18 1.0 intronic rs3214685 IVD AR NM_002225 exon2 c.1907+80insTT 0.646765 0.7768 Uncertain 15_40700022_C->T 15 40700022 40700022 C T snp 617.77 1/1 48 16 0 16 1.0 intronic rs10518693 IVD AR NM_002225 exon2 c.1907+96C>T 0.472843 0.745 Uncertain 15_40703339_C->T 15 40703339 40703339 C T snp 386.77 1/1 30 12 0 12 1.0 intronic rs8034416 IVD AR NM_001159508 exon4 c.5439-119C>T 0.631789 0.7768 Uncertain 15_40703609_A->G 15 40703609 40703609 A G snp 1631.77 1/1 99 53 0 53 1.0 intronic rs4924466 IVD AR NM_001159508 exon4 c.5533+57A>G 0.978435 1 Uncertain 15_40705105_A->G 15 40705105 40705105 A G snp 1257.77 1/1 90 50 1 49 0.98 intronic rs2289330 IVD AR NM_001159508 exon6 c.7170-84A>G 0.683107 0.8095 Uncertain 15_40705159_T->C 15 40705159 40705159 T C snp 1919.77 1/1 99 74 0 74 1.0 intronic rs2289329 IVD AR NM_001159508 exon6 c.7170-30T>C 0.466054 0.746 0.329310 0.4626 0.7841 Uncertain 15_40708422_A->G 15 40708422 40708422 A G snp 4658.77 1/1 99 176 0 176 1.0 intronic rs11070270 IVD AR NM_001159508 exon9 c.10362+41A>G 0.632188 0.7788 0.577272 0.6786 0.8192 Uncertain 15_40710101_G->T 15 40710101 40710101 G T snp 48.74 1/1 6 2 0 2 1.0 intronic rs11070271 IVD AR NM_001159508 exon11 c.12309-227G>T 0.506789 0.7659 Uncertain 15_40710108_A->T 15 40710108 40710108 A T snp 170.9 1/1 15 5 0 5 1.0 intronic rs11638033 IVD AR NM_001159508 exon11 c.12309-220A>T 0.459065 0.747 Uncertain 15_40711270_C->G 15 40711270 40711270 C G snp 2687.77 1/1 99 91 0 91 1.0 UTR3 rs2075625 IVD AR 0.507388 0.7669 Uncertain 15_40712737_T->C 15 40712737 40712737 T C snp 2261.77 1/1 99 76 0 76 1.0 UTR3 rs11790 IVD AR 0.611222 0.7788 Uncertain 15_40716253_G->C 15 40716253 40716253 G C snp 1630.77 1/1 99 56 0 56 1.0 intergenic rs2304645 IVD AR 0.486422 0.6587 Uncertain 15_40750740_A->G 15 40750740 40750740 A G snp 2938.77 0/1 99 250 128 122 0.49 exonic rs3743143 BAHD1 AU nonsynonymous SNV NM_001301132 exon2 c.A77G p.E26G 0.0567093 0.1399 0.016223 0.0425 0.1313 0.01 T 0.825 P -1.097 T 0.001 T 0.004 T Pathogenic 15_40751555_C->A 15 40751555 40751555 C A snp 3816.77 0/1 99 249 106 143 0.57 exonic rs3803357 BAHD1 AU nonsynonymous SNV NM_001301132 exon2 c.C892A p.Q298K 0.675719 0.7937 0.585503 0.5914 0.8195 0.33 T 0.036 P -0.988 T 0.11 T 0.033 T Pathogenic 15_40752134_G->A 15 40752134 40752134 G A snp 977.77 0/1 99 61 24 37 0.61 intronic rs3743144 BAHD1 AU NM_014952 exon2 c.1432+39G>A 0.0658946 0.1389 0.017607 0.0432 0.1405 Uncertain 15_40820805_A->G 15 40820805 40820805 A G snp 93.28 1/1 9 3 0 3 1.0 intergenic rs7164166 CHST14 AR 0.845847 0.879 Uncertain 15_40824710_T->C 15 40824710 40824710 T C snp 307.78 1/1 24 9 0 9 1.0 ncRNA_exonic rs8029208 MRPL42P5 AU 0.846645 0.879 Uncertain 15_40827030_C->G 15 40827030 40827030 C G snp 1656.77 0/1 99 122 58 64 0.52 intronic rs12916323 C15orf57 AU NM_001289132 exon1 c.4+2529C>G 0.194489 0.123 Uncertain 15_40846105_GTGTGTGTGTGTGTGTGTGT->- 15 40846105 40846124 GTGTGTGTGTGTGTGTGTGT - indel 1294.77 1/1 20 9 0 9 1.0 UTR3 C15orf57 AU Uncertain 15_40849408_C->T 15 40849408 40849408 C T snp 1000.77 0/1 99 87 41 46 0.53 intronic rs8028999 C15orf57 AU NM_052849 exon2 c.3245-6C>T 0.359225 0.6389 0.205521 0.2597 0.6674 Uncertain 15_40856989_C->T 15 40856989 40856989 C T snp 5753.77 1/1 99 220 0 220 1.0 splicing rs3803354 C15orf57 AU NM_052849 exon4 c.10820C>T 0.85603 0.872 0.882883 0.9077 0.8703 Pathogenic 15_40857105_T->G 15 40857105 40857105 T G snp 347.77 0/1 99 27 15 12 0.44 UTR5 rs184651651 C15orf57 AU 0.00279553 0.0129 Uncertain 15_40861523_G->T 15 40861523 40861523 G T snp 1129.77 0/1 99 99 55 44 0.44 UTR5 rs118042478 RPUSD2 AU 0.0251597 0.0942 0.000769 0.0145 0.0871 Uncertain 15_40898643_G->C 15 40898643 40898643 G C snp 303.77 0/1 99 33 17 16 0.48 exonic rs7177192 CASC5 AU nonsynonymous SNV NM_170589 exon4 c.G128C p.R43T 0.653754 0.3542 0.822177 0.7456 0.3222 1 T 0.0 P -0.968 T 0.0 T 0.0 T CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000116558.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 15_40900944_A->- 15 40900944 40900944 A - indel 126.75 1/1 24 8 0 8 1.0 intronic rs35446763 CASC5 AU NM_144508 exon5 c.5915-100delA 0.442692 0.3294 Uncertain 15_40903684_A->G 15 40903684 40903684 A G snp 88.28 1/1 9 4 0 4 1.0 exonic rs12911738 CASC5 AU nonsynonymous SNV NM_170589 exon8 c.A337G p.T113A 0.705272 0.3532 0.7878 0.3633 0.82 T 0.000 P -0.989 T 0.0 T 0.0 T CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_multiple_submitters\x2c_no_conflicts;CLNACC=RCV000116567.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 15_40913840_G->T 15 40913840 40913840 G T snp 1173.77 0/1 99 86 40 46 0.53 exonic rs2412541 CASC5 AU nonsynonymous SNV NM_170589 exon11 c.G1456T p.A486S 0.653954 0.3532 0.821713 0.7455 0.3223 1 T 0.0 P -1.032 T 0.0 T 0.0 T CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000116560.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 15_40914177_T->C 15 40914177 40914177 T C snp 1858.77 0/1 99 134 65 69 0.51 exonic rs11858113 CASC5 AU nonsynonymous SNV NM_170589 exon11 c.T1793C p.M598T 0.351438 0.254 0.391472 0.3924 0.2416 0.15 T 0.030 P -0.938 T 0.884 T 0.586 P CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000116561.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 15_40914772_C->T 15 40914772 40914772 C T snp 2711.77 0/1 99 242 129 113 0.47 exonic rs11855334 CASC5 AU synonymous SNV NM_170589 exon11 c.C2388T p.V796V 0.350839 0.254 0.389887 0.3928 0.2417 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000116562.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 15_40915045_T->G 15 40915045 40915045 T G snp 1415.77 0/1 99 121 60 61 0.5 exonic rs8041534 CASC5 AU synonymous SNV NM_170589 exon11 c.T2661G p.T887T 0.351238 0.254 0.393196 0.3923 0.2417 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000116565.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 15_40915190_A->G 15 40915190 40915190 A G snp 1991.77 0/1 99 170 84 86 0.51 exonic rs8040502 CASC5 AU nonsynonymous SNV NM_170589 exon11 c.A2806G p.R936G 0.705671 0.3532 0.869467 0.7589 0.3228 1 T 0.0 P -1.015 T 0.0 T 0.0 T Pathogenic 15_40915894_T->C 15 40915894 40915894 T C snp 3356.77 0/1 99 250 120 130 0.52 exonic rs11070285 CASC5 AU synonymous SNV NM_170589 exon11 c.T3510C p.N1170N 0.351837 0.254 0.392791 0.3935 0.2418 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000116568.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 15_40917613_T->C 15 40917613 40917613 T C snp 841.77 0/1 99 90 51 39 0.43 exonic rs74377704 CASC5 AU synonymous SNV NM_170589 exon11 c.T5229C p.P1743P 0.0255591 0.0952 0.000593 0.0137 0.0885 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000116576.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 15_40937647_A->G 15 40937647 40937647 A G snp 31.77 0/1 60 6 4 2 0.33 intronic rs3092979 CASC5 AU NM_144508 exon16 c.42724-206A>G 0.349641 0.254 Uncertain 15_40937727_C->T 15 40937727 40937727 C T snp 2049.77 1/1 99 66 0 66 1.0 intronic rs6492959 CASC5 AU NM_144508 exon16 c.42724-126C>T 0.952276 0.8671 Uncertain 15_40939448_G->A 15 40939448 40939448 G A snp 127.78 0/1 27 6 1 5 0.83 intronic rs8041095 CASC5 AU NM_144508 exon17 c.44143+176G>A 0.654153 0.3532 Uncertain 15_40947023_C->T 15 40947023 40947023 C T snp 291.77 0/1 99 30 16 14 0.47 intronic rs10444817 CASC5 AU NM_144508 exon22 c.51977-83C>T 0.35004 0.254 Uncertain 15_40949526_C->T 15 40949526 40949526 C T snp 734.77 0/1 99 62 28 34 0.55 intronic rs2412544 CASC5 AU NM_144508 exon24 c.54423-26C>T 0.350439 0.254 0.391995 0.3920 0.2406 Uncertain 15_40998305_T->A 15 40998305 40998305 T A snp 159.77 0/1 66 9 3 6 0.67 intronic rs45592734 RAD51 AD NM_001164270 exon4 c.7418-69T>A 0.203874 0.1121 Uncertain 15_40998342_T->G 15 40998342 40998342 T G snp 291.77 0/1 99 32 16 16 0.5 intronic rs45457497 RAD51 AD NM_001164270 exon4 c.7418-32T>G 0.354233 0.6438 0.188788 0.2652 0.6767 Uncertain 15_41029667_T->C 15 41029667 41029667 T C snp 278.77 0/1 99 18 9 9 0.5 intronic rs2304580 RMDN3 AU NM_018145 exon3 c.801+128T>C 0.305312 0.6657 Uncertain 15_41030096_C->T 15 41030096 41030096 C T snp 549.77 0/1 99 41 20 21 0.51 intronic rs77019569 RMDN3 AU NM_018145 exon5 c.1424-66C>T 0.0415335 0.121 Uncertain 15_41030579_-->A 15 41030579 41030579 - A indel 312.73 1/1 36 13 0 13 1.0 intronic rs34355108 RMDN3 AU NM_018145 exon6 c.1960-119insA 0.559305 0.7679 Uncertain 15_41030865_C->G 15 41030865 41030865 C G snp 755.77 1/1 57 22 0 22 1.0 intronic rs2304582 RMDN3 AU NM_018145 exon6 c.2036+91C>G Uncertain 15_41036410_G->T 15 41036410 41036410 G T snp 1054.77 0/1 99 125 82 43 0.34 intronic rs117862109 RMDN3 AU NM_018145 exon8 c.7609+63G>T 0.0425319 0.122 0.0256 0.1289 Uncertain 15_41036448_G->A 15 41036448 41036448 G A snp 2682.77 1/1 99 93 0 93 1.0 intronic rs4923884 RMDN3 AU NM_018145 exon8 c.7609+101G>A 0.554113 0.755 0.6166 0.7910 Uncertain 15_41047024_G->A 15 41047024 41047024 G A snp 438.77 1/1 33 13 0 13 1.0 intronic rs7169010 RMDN3 AU NM_018145 exon12 c.18250+36G>A 0.608626 0.7599 0.627459 0.7779 0.9089 Uncertain 15_41063244_C->T 15 41063244 41063244 C T snp 877.77 1/1 63 33 0 33 1.0 UTR3 rs1866170 C15orf62 AU 0.407748 0.3839 0.5137 0.3983 Uncertain 15_41065890_C->T 15 41065890 41065890 C T snp 796.77 0/1 99 65 28 37 0.57 intronic rs2289219 DNAJC17 AU NM_018163 exon2 c.5787-34C>T 0.174321 0.0883 0.250038 0.3192 0.0880 Uncertain 15_41099349_C->T 15 41099349 41099349 C T snp 74.77 0/1 99 8 5 3 0.38 UTR5 rs11070297 ZFYVE19 AU 0.338458 0.2252 Uncertain 15_41099711_C->G 15 41099711 41099711 C G snp 2920.77 0/1 99 223 102 121 0.54 UTR5 rs78819718 ZFYVE19 AU 0.047524 0.0079 Uncertain 15_41099819_C->T 15 41099819 41099819 C T snp 1410.77 0/1 99 100 44 56 0.56 exonic rs76010310 ZFYVE19 AU nonsynonymous SNV NM_001077268 exon1 c.C32T p.P11L 0.0477236 0.0079 0.053298 0.0236 0.0020 0.05 T 1 N -1.054 T 0.098 T 0.013 T Pathogenic 15_41099899_-->GGGGC 15 41099899 41099899 - GGGGC indel 2251.73 0/1 99 80 42 38 0.47 exonic rs142730574 ZFYVE19 AU frameshift insertion NM_001077268 exon1 c.112_113insGGGGC p.W38fs 0.336462 0.2252 0.332666 0.3555 0.2160 ID=COSM1323224;OCCURENCE=4(large_intestine),2(urinary_tract),2(ovary) Pathogenic 15_41100001_C->G 15 41100001 41100001 C G snp 1990.77 0/1 99 196 106 90 0.46 exonic rs116166434 ZFYVE19 AU nonsynonymous SNV NM_001077268 exon1 c.C214G p.L72V 0.0413339 0.0079 0.043801 0.0136 0.0019 0.37 T 1 N -1.068 T 0.058 T 0.025 T Pathogenic 15_41101145_C->T 15 41101145 41101145 C T snp 674.77 0/1 99 57 33 24 0.42 intronic rs3743034 ZFYVE19 AU NM_001077268 exon2 c.1529-171C>T 0.339257 0.2252 Uncertain 15_41101549_G->C 15 41101549 41101549 G C snp 652.77 0/1 99 48 20 28 0.58 intronic rs79608897 ZFYVE19 AU NM_001077268 exon3 c.1818-56G>C 0.0477236 0.0079 0.059352 Uncertain 15_41102745_C->G 15 41102745 41102745 C G snp 405.77 0/1 99 21 7 14 0.67 intronic rs76617267 ZFYVE19 AU NM_001077268 exon6 c.3059-101C>G 0.0477236 0.0079 Uncertain 15_41104775_G->A 15 41104775 41104775 G A snp 69.77 0/1 98 6 3 3 0.5 intronic ZFYVE19 AU NM_001077268 exon7 c.5109-121G>A Uncertain 15_41104789_-->AG 15 41104789 41104789 - AG indel 578.73 1/1 39 13 0 13 1.0 intronic rs78854020 ZFYVE19 AU NM_001077268 exon7 c.5109-107insAG 0.356629 0.8056 Uncertain 15_41104817_A->G 15 41104817 41104817 A G snp 552.77 0/1 99 29 9 20 0.69 intronic rs35853942 ZFYVE19 AU NM_001077268 exon7 c.5109-79A>G 0.345647 0.247 Uncertain 15_41104874_G->C 15 41104874 41104874 G C snp 1081.77 0/1 99 87 37 50 0.57 intronic rs17657877 ZFYVE19 AU NM_001077268 exon7 c.5109-22G>C 0.345647 0.247 0.360033 0.3763 0.2493 Uncertain 15_41105926_T->G 15 41105926 41105926 T G snp 1130.77 1/1 81 39 0 39 1.0 exonic rs690347 ZFYVE19 AU nonsynonymous SNV NM_001258420 exon8 c.T922G p.S308A 0.807708 0.8968 0.754619 0.7843 0.8955 1 T 0.000 P -0.958 T 0.0 T 0.0 T Pathogenic 15_41106485_A->C 15 41106485 41106485 A C snp 471.77 0/1 99 37 19 18 0.49 UTR3 rs7915 ZFYVE19 AU 0.344249 0.6508 0.299825 Uncertain 15_41108010_C->A 15 41108010 41108010 C A snp 530.77 0/1 99 51 29 22 0.43 intronic rs77318894 PPP1R14D AU NM_017726 exon1 c.66+51C>A 0.0710863 0.0079 0.085653 0.0344 0.0022 Uncertain 15_41146581_T->C 15 41146581 41146581 T C snp 1999.77 1/1 99 66 0 66 1.0 intronic rs3736287 SPINT1 AU NM_181642 exon7 c.9842-13T>C 0.739217 0.7143 0.747655 0.7849 0.6964 Uncertain 15_41148199_C->T 15 41148199 41148199 C T snp 7432.77 1/1 99 246 0 246 1.0 exonic rs659232 SPINT1 AU synonymous SNV NM_001032367 exon8 c.C1227T p.Y409Y 0.853834 0.9901 0.800861 0.8520 0.9903 Uncertain 15_41149161_G->C 15 41149161 41149161 G C snp 2356.77 1/1 99 92 0 92 1.0 exonic rs690458 SPINT1 AU synonymous SNV NM_001032367 exon10 c.G1530C p.T510T 0.850839 0.9901 0.796555 0.8513 0.9903 Uncertain 15_41165739_A->C 15 41165739 41165739 A C snp 4507.77 1/1 99 165 0 165 1.0 intronic rs1814692 RHOV AU NM_133639 exon1 c.444+40A>C 0.807708 0.8581 0.771663 0.8017 0.8739 Uncertain 15_41193274_T->C 15 41193274 41193274 T C snp 2125.77 1/1 99 76 0 76 1.0 intronic rs9806730 VPS18 AU NM_020857 exon4 c.6246+62T>C 0.960064 0.999 Uncertain 15_41193316_C->T 15 41193316 41193316 C T snp 1062.77 1/1 78 32 0 32 1.0 intronic rs9806683 VPS18 AU NM_020857 exon4 c.6246+104C>T 0.685903 0.6627 Uncertain 15_41224124_G->A 15 41224124 41224124 G A snp 724.77 1/1 54 18 0 18 1.0 intronic rs3212278 DLL4 AD NM_019074 exon4 c.2098+160G>A 0.6873 0.752 Uncertain 15_41246237_-->TC 15 41246237 41246237 - TC indel 329.77 1/1 21 7 0 7 1.0 intronic rs3033592 CHAC1 AU NM_001142776 exon2 c.770-188insTC 0.853634 0.9127 Uncertain 15_41247383_G->A 15 41247383 41247383 G A snp 141.03 1/1 12 4 0 4 1.0 intronic rs2412576 CHAC1 AU NM_001142776 exon3 c.1915-187G>A 0.849042 0.9147 Uncertain 15_41315591_-->AT 15 41315591 41315591 - AT indel 3260.73 1/1 99 66 0 66 1.0 intronic rs5812182 INO80 AU NM_017553 exon11 c.40903+2268insAT 0.957268 1 0.9972 1 Uncertain 15_41315695_G->A 15 41315695 41315695 G A snp 56.74 1/1 6 2 0 2 1.0 intronic rs2925346 INO80 AU NM_017553 exon11 c.40903+2372G>A 0.454673 0.7103 Uncertain 15_41339481_C->T 15 41339481 41339481 C T snp 272.8 1/1 21 9 0 9 1.0 intronic rs11070320 INO80 AU NM_017553 exon14 c.67185-124C>T 0.860224 0.999 Uncertain 15_41346092_T->C 15 41346092 41346092 T C snp 1933.77 1/1 99 67 0 67 1.0 intronic rs2899010 INO80 AU NM_017553 exon18 c.73706-34T>C 0.860823 0.999 0.863832 0.9506 0.9996 Uncertain 15_41476101_T->C 15 41476101 41476101 T C snp 1085.77 1/1 78 39 0 39 1.0 UTR3 rs521088 EXD1 AU 0.999002 1 0.999077 0.9997 1 Uncertain 15_41476209_T->C 15 41476209 41476209 T C snp 3760.77 1/1 99 125 0 125 1.0 exonic rs522063 EXD1 AU nonsynonymous SNV NM_152596 exon10 c.A1465G p.T489A 0.817692 0.9861 0.741119 0.7814 0.9904 1 T 0.0 P -0.981 T 0.0 T 0.001 T Pathogenic 15_41476856_-->T 15 41476856 41476856 - T indel 161.74 1/1 29 26 0 26 1.0 intronic rs111604343 EXD1 AU NM_152596 exon1 c.663+65insT 0.785942 0.9841 Uncertain 15_41476875_T->C 15 41476875 41476875 T C snp 164.9 1/1 15 9 0 9 1.0 intronic rs2467297 EXD1 AU NM_152596 exon1 c.663+84T>C 0.810503 0.9871 Uncertain 15_41483631_-->A 15 41483631 41483631 - A indel 3603.73 1/1 99 86 0 86 1.0 intronic rs11371504 EXD1 AU NM_152596 exon3 c.7511-8insA 0.972644 1 0.971965 0.9910 1 Uncertain 15_41483636_C->T 15 41483636 41483636 C T snp 3013.77 1/1 99 96 0 96 1.0 splicing rs2412609 EXD1 AU NM_152596 exon3 c.7511-3C>T 0.999002 1 0.999077 0.9997 1 Pathogenic 15_41555249_T->C 15 41555249 41555249 T C snp 218.77 0/1 99 14 7 7 0.5 intronic rs7175912 CHP1 AU NM_007236 exon4 c.31501+168T>C 0.523163 0.2897 Uncertain 15_41556395_G->A 15 41556395 41556395 G A snp 2029.77 0/1 99 168 79 89 0.53 intronic rs72739605 CHP1 AU NM_007236 exon4 c.31501+1314G>A 0.0798722 0.0258 0.1961 0.0076 Uncertain 15_41605653_G->C 15 41605653 41605653 G C snp 46.77 0/1 36 4 2 2 0.5 intronic rs8032846 OIP5 AU NM_007280 exon2 c.3601+101G>C 0.770168 0.8046 Uncertain 15_41667893_T->C 15 41667893 41667893 T C snp 1530.77 0/1 99 152 88 64 0.42 intronic rs199967496 NUSAP1 AU NM_016359 exon9 c.42754-16T>C 0.000199681 0.001 0.0001 0.0014 Uncertain 15_41766966_G->A 15 41766966 41766966 G A snp 803.78 1/1 24 23 1 22 0.96 intronic rs167581 RTF1 AU NM_015138 exon9 c.57587+66G>A 0.999401 1 Uncertain 15_41797573_-->G 15 41797573 41797573 - G indel 586.73 0/1 99 68 37 31 0.46 intronic rs35233496 LTK AU NM_206961 exon7 c.1405-25insG 0.458267 0.88 0.3999 0.8705 Uncertain 15_41797807_C->T 15 41797807 41797807 C T snp 717.77 0/1 99 67 37 30 0.45 intronic rs113592434 LTK AU NM_206961 exon7 c.1535+79C>T 0.00139776 Uncertain 15_41805068_C->T 15 41805068 41805068 C T snp 1537.77 0/1 99 155 81 74 0.48 exonic rs201734476 LTK AU nonsynonymous SNV NM_002344 exon3 c.G196A p.G66R 0.000399361 0.0006 0 0.83 T 1 N -0.951 T 0.005 T 0.011 T Pathogenic 15_41810439_G->C 15 41810439 41810439 G C snp 344.78 1/1 27 11 0 11 1.0 intronic rs932959 RPAP1 AU NM_015540 exon3 c.641+59G>C 0.299321 0.2768 Uncertain 15_41813279_C->T 15 41813279 41813279 C T snp 4900.77 1/1 99 183 1 182 0.99 exonic rs3743031 RPAP1 AU synonymous SNV NM_015540 exon22 c.G3105A p.R1035R 0.298522 0.2758 0.344356 0.3836 0.3030 Uncertain 15_41815516_G->C 15 41815516 41815516 G C snp 4446.77 1/1 99 158 0 158 1.0 exonic rs8027526 RPAP1 AU nonsynonymous SNV NM_015540 exon18 c.C2473G p.Q825E 0.975839 1 0.971782 0.9925 1 1 T 0.000 P -0.934 T 0.0 T 0.0 T Pathogenic 15_41815649_A->G 15 41815649 41815649 A G snp 1584.77 1/1 99 55 0 55 1.0 intronic rs2297377 RPAP1 AU NM_015540 exon8 c.5813+97A>G 0.470048 0.6637 Uncertain 15_41819322_C->T 15 41819322 41819322 C T snp 5850.77 1/1 99 216 0 216 1.0 intronic rs2297380 RPAP1 AU NM_015540 exon13 c.9625-42C>T 0.311901 0.2798 0.346532 0.3900 0.3054 Uncertain 15_41819998_G->A 15 41819998 41819998 G A snp 650.77 1/1 51 20 0 20 1.0 intronic rs11070334 RPAP1 AU NM_015540 exon15 c.10318-59G>A 0.285942 0.2768 Uncertain 15_41827243_A->G 15 41827243 41827243 A G snp 845.77 1/1 63 25 0 25 1.0 intronic rs7181115 RPAP1 AU NM_015540 exon20 c.17394+110A>G 0.984026 1 Uncertain 15_41827655_C->T 15 41827655 41827655 C T snp 392.77 1/1 30 14 0 14 1.0 intronic rs2297381 RPAP1 AU NM_015540 exon21 c.17970-54C>T 0.388379 0.4444 Uncertain 15_41829230_A->G 15 41829230 41829230 A G snp 4154.77 1/1 99 157 0 157 1.0 exonic rs721772 RPAP1 AU synonymous SNV NM_015540 exon2 c.T94C p.L32L 0.391374 0.4464 0.423266 0.4753 0.4840 Uncertain 15_41856543_A->G 15 41856543 41856543 A G snp 442.77 0/1 99 27 14 13 0.48 intronic rs11070339 TYRO3 AU NM_006293 exon5 c.5013+75A>G 0.653554 0.9762 Uncertain 15_41857216_G->A 15 41857216 41857216 G A snp 507.77 0/1 99 28 12 16 0.57 intronic rs11639399 TYRO3 AU NM_006293 exon6 c.5768-7G>A 0.159744 0.0119 0.243580 0.2691 0.0168 Uncertain 15_41860411_G->A 15 41860411 41860411 G A snp 46.77 0/1 33 3 1 2 0.67 splicing rs7171675 TYRO3 AU NM_006293 exon8 c.8959-3G>A 0.332668 0.0228 0.441719 0.3679 0.0195 Pathogenic 15_41860490_T->A 15 41860490 41860490 T A snp 668.77 0/1 99 50 21 29 0.58 exonic rs12148316 TYRO3 AU nonsynonymous SNV NM_006293 exon8 c.T1037A p.I346N 0.154752 0.0109 0.234815 0.2264 0.0153 0.43 T 0.830 P -1.052 T 0.408 T 0.133 T Pathogenic 15_41863181_G->A 15 41863181 41863181 G A snp 1148.77 0/1 99 110 60 50 0.45 intronic rs8024626 TYRO3 AU NM_006293 exon13 c.11780-54G>A 0.171526 0.0109 0.264345 Uncertain 15_41865488_C->T 15 41865488 41865488 C T snp 2332.77 0/1 99 204 102 102 0.5 intronic rs2246444 TYRO3 AU NM_006293 exon17 c.14050-17C>T 0.446685 0.7837 0.389743 0.4163 0.8083 Uncertain 15_41991315_A->T 15 41991315 41991315 A T snp 1918.77 1/1 99 66 0 66 1.0 exonic rs2178004 MGA AU nonsynonymous SNV NM_001080541 exon5 c.A2146T p.T716S 0.759385 0.8909 0.746112 0.8197 0.8892 1 T 0.000 P -0.944 T 0.0 T 0.002 T Pathogenic 15_41991392_T->- 15 41991392 41991392 T - indel 1445.73 1/1 99 44 0 44 1.0 intronic rs11285992 MGA AU NM_001080541 exon5 c.30265+35delT 0.236821 0.6825 0.128571 0.1878 0.6769 Uncertain 15_42026764_C->T 15 42026764 42026764 C T snp 4768.77 1/1 99 180 0 180 1.0 exonic rs1918314 MGA AU synonymous SNV NM_001080541 exon12 c.C3888T p.D1296D 0.748203 0.8919 0.735603 0.8016 0.8874 Uncertain 15_42028354_C->A 15 42028354 42028354 C A snp 261.8 1/1 21 8 0 8 1.0 intronic rs2577960 MGA AU NM_001080541 exon13 c.67286-24C>A 0.724641 0.8125 0.701897 0.6828 0.7956 Uncertain 15_42041712_G->A 15 42041712 42041712 G A snp 4574.77 1/1 99 153 0 153 1.0 exonic rs2695163 MGA AU synonymous SNV NM_001080541 exon16 c.G5280A p.K1760K 0.700879 0.8909 0.697657 0.7840 0.8868 Uncertain 15_42046568_A->G 15 42046568 42046568 A G snp 593.77 1/1 45 18 0 18 1.0 intronic rs2695164 MGA AU NM_001080541 exon17 c.85542-66A>G 0.832867 0.8909 Uncertain 15_42059521_A->T 15 42059521 42059521 A T snp 1119.77 1/1 81 41 0 41 1.0 UTR3 rs2605570 MGA AU 0.80611 0.8899 0.790810 0.8312 0.8876 Uncertain 15_42133885_T->C 15 42133885 42133885 T C snp 3419.77 1/1 99 121 0 121 1.0 intronic rs1648837 JMJD7-PLA2G4B AU NM_001198588 exon12 c.13447+116T>C 0.773962 0.88 Uncertain 15_42133886_G->A 15 42133886 42133886 G A snp 3302.77 1/1 99 120 0 120 1.0 intronic rs1648836 JMJD7-PLA2G4B AU NM_001198588 exon12 c.13447+117G>A 0.755192 0.88 Uncertain 15_42134097_C->T 15 42134097 42134097 C T snp 3849.77 1/1 99 152 2 150 0.99 exonic rs3816533 JMJD7-PLA2G4B AU nonsynonymous SNV NM_001114633 exon8 c.C571T p.R191C 0.221446 0.6756 0.111948 0.1928 0.6776 0.23 T 0.000 P -0.940 T 0.002 T 0.002 T Pathogenic 15_42134301_A->C 15 42134301 42134301 A C snp 2482.77 1/1 99 82 0 82 1.0 intronic rs1648835 JMJD7-PLA2G4B AU NM_001198588 exon14 c.14068-89A>C 0.755591 0.881 Uncertain 15_42134371_G->C 15 42134371 42134371 G C snp 4527.77 1/1 99 168 0 168 1.0 intronic rs1648834 JMJD7-PLA2G4B AU NM_001198588 exon14 c.14068-19G>C 0.755591 0.88 0.747270 0.7970 0.8729 Uncertain 15_42134523_C->T 15 42134523 42134523 C T snp 1464.77 1/1 99 43 0 43 1.0 intronic rs1648833 JMJD7-PLA2G4B AU NM_001198588 exon14 c.14152+49C>T 0.755391 0.88 0.747309 0.7966 0.8719 Uncertain 15_42134652_G->A 15 42134652 42134652 G A snp 468.77 1/1 36 17 0 17 1.0 intronic rs1672464 JMJD7-PLA2G4B AU NM_001198588 exon15 c.14429-99G>A 0.773163 0.88 Uncertain 15_42134839_T->C 15 42134839 42134839 T C snp 387.77 1/1 30 16 0 16 1.0 intronic rs1672465 JMJD7-PLA2G4B AU NM_001198588 exon15 c.14467+50T>C 0.778554 0.88 0.767046 0.8053 0.8735 Uncertain 15_42134930_G->T 15 42134930 42134930 G T snp 52.74 1/1 6 2 0 2 1.0 intronic rs1648832 JMJD7-PLA2G4B AU NM_001198588 exon15 c.14467+141G>T 0.755391 0.88 Uncertain 15_42135988_C->T 15 42135988 42135988 C T snp 1941.77 1/1 99 71 0 71 1.0 exonic rs1672466 JMJD7-PLA2G4B AU synonymous SNV NM_001114633 exon11 c.C858T p.D286D 0.755391 0.879 0.748347 0.7971 0.8717 Uncertain 15_42137037_T->- 15 42137037 42137037 T - indel 1618.73 1/1 99 42 0 42 1.0 intronic rs3214841 JMJD7-PLA2G4B AU NM_001198588 exon18 c.16723-8delT 0.220447 0.6577 0.117910 0.2578 0.6970 Uncertain 15_42137282_G->A 15 42137282 42137282 G A snp 4491.77 1/1 99 160 0 160 1.0 intronic rs1648829 JMJD7-PLA2G4B AU NM_001198588 exon18 c.16946+14G>A 0.752995 0.877 0.749423 0.8040 0.8735 Uncertain 15_42137576_C->T 15 42137576 42137576 C T snp 1451.77 1/1 99 41 0 41 1.0 intronic rs1648828 JMJD7-PLA2G4B AU NM_001198588 exon19 c.17196+58C>T 0.752796 0.877 Uncertain 15_42137581_A->C 15 42137581 42137581 A C snp 1383.77 1/1 99 37 0 37 1.0 intronic rs1648827 JMJD7-PLA2G4B AU NM_001198588 exon19 c.17196+63A>C 0.753395 0.88 Uncertain 15_42138321_A->G 15 42138321 42138321 A G snp 5960.77 1/1 99 185 0 185 1.0 intronic rs1197670 JMJD7-PLA2G4B AU NM_001198588 exon21 c.17923+76A>G 0.757388 0.8879 0.8032 0.8852 Uncertain 15_42139038_G->A 15 42139038 42139038 G A snp 2492.77 1/1 99 90 0 90 1.0 splicing rs890508 JMJD7-PLA2G4B AU NM_001198588 exon23 c.18711+5G>A 0.750599 0.876 0.742580 0.7965 0.8679 Pathogenic 15_42139391_T->- 15 42139391 42139391 T - indel 517.73 1/1 48 16 0 16 1.0 intronic rs3214531 JMJD7-PLA2G4B AU NM_005090 exon24 c.19212-143delT 0.773762 0.874 Uncertain 15_42139642_C->T 15 42139642 42139642 C T snp 3970.77 1/1 99 137 0 137 1.0 exonic rs883329 JMJD7-PLA2G4B AU synonymous SNV NM_001114633 exon19 c.C2055T p.S685S 0.220048 0.6587 0.116254 0.1838 0.6619 Uncertain 15_42143145_-->CA 15 42143145 42143145 - CA indel 5236.73 0/1 99 249 120 129 0.52 intronic rs35794380 SPTBN5 AU NM_016642 exon3 c.2324+8insCA 0.479034 0.3046 0.511733 0.4490 0.3712 Uncertain 15_42143227_T->C 15 42143227 42143227 T C snp 2881.77 0/1 99 249 135 114 0.46 intronic rs2054151 SPTBN5 AU NM_016642 exon4 c.2443-29T>C 0.305911 0.4077 0.286424 0.3558 0.4759 Uncertain 15_42147206_T->C 15 42147206 42147206 T C snp 2063.77 1/1 99 72 0 72 1.0 intronic rs1648826 SPTBN5 AU NM_016642 exon13 c.6361+32T>C 0.928315 0.9921 0.913410 0.9026 0.9960 Uncertain 15_42147639_A->C 15 42147639 42147639 A C snp 3959.77 1/1 99 145 0 145 1.0 intronic rs2305655 SPTBN5 AU NM_016642 exon14 c.6813+13A>C 0.619409 0.8502 0.584788 0.6638 0.8294 Uncertain 15_42147663_G->C 15 42147663 42147663 G C snp 4290.77 1/1 99 156 0 156 1.0 intronic rs1672467 SPTBN5 AU NM_016642 exon14 c.6813+37G>C 0.934305 0.9821 0.925667 0.9050 0.9871 Uncertain 15_42149472_T->C 15 42149472 42149472 T C snp 1627.77 1/1 99 50 0 50 1.0 exonic rs1456235 SPTBN5 AU nonsynonymous SNV NM_016642 exon51 c.A8585G p.Q2862R 0.524361 0.9544 0.417819 0.6029 0.9551 0.13 T 0.0 P -0.995 T 0.006 T 0.004 T Pathogenic 15_42149506_G->C 15 42149506 42149506 G C snp 2097.77 1/1 99 74 0 74 1.0 exonic rs12442525 SPTBN5 AU nonsynonymous SNV NM_016642 exon51 c.C8551G p.Q2851E 0.470847 0.9454 0.357234 0.5276 0.9619 0.04 T 0.0 P -1.024 T 0.425 T 0.127 T Pathogenic 15_42154738_G->A 15 42154738 42154738 G A snp 303.77 0/1 99 33 18 15 0.45 exonic rs16972193 SPTBN5 AU nonsynonymous SNV NM_016642 exon43 c.C7384T p.R2462W 0.161142 0.4603 0.091788 0.2078 0.5440 0.09 T 0.328 P -0.968 T 0.213 T 0.07 T Pathogenic 15_42156321_T->C 15 42156321 42156321 T C snp 741.77 1/1 57 21 0 21 1.0 intronic rs1197657 SPTBN5 AU NM_016642 exon29 c.15409+99T>C 0.91893 0.9752 Uncertain 15_42159110_C->T 15 42159110 42159110 C T snp 578.77 0/1 99 66 40 26 0.39 intronic rs3816534 SPTBN5 AU NM_016642 exon33 c.18343-46C>T 0.170327 0.4921 0.088264 0.1858 0.5437 Uncertain 15_42159623_T->C 15 42159623 42159623 T C snp 1658.77 1/1 99 46 1 45 0.98 intronic rs8032462 SPTBN5 AU NM_016642 exon34 c.18922-112T>C 0.770767 0.9653 Uncertain 15_42166333_C->A 15 42166333 42166333 C A snp 653.77 0/1 99 32 10 22 0.69 intronic rs58090119 SPTBN5 AU NM_016642 exon44 c.25430+90C>A 0.072484 0.1905 Uncertain 15_42166475_G->A 15 42166475 42166475 G A snp 274.77 0/1 99 38 26 12 0.32 intronic rs12593435 SPTBN5 AU NM_016642 exon45 c.25676-14G>A 0.157947 0.4712 0.091491 0.1535 0.4984 Uncertain 15_42166500_C->T 15 42166500 42166500 C T snp 356.77 0/1 99 49 32 17 0.35 exonic rs12593397 SPTBN5 AU nonsynonymous SNV NM_016642 exon24 c.G4679A p.R1560H 0.395168 0.7034 0.329652 0.4465 0.7239 0.27 T 0.0 P -0.963 T 0.0 T 0.001 T Pathogenic 15_42167956_C->A 15 42167956 42167956 C A snp 80.77 0/1 63 5 2 3 0.6 intronic rs16972210 SPTBN5 AU NM_016642 exon47 c.27007+136C>A 0.0696885 0.1865 Uncertain 15_42170499_T->G 15 42170499 42170499 T G snp 1176.77 1/1 87 40 0 40 1.0 intronic rs1201690 SPTBN5 AU NM_016642 exon52 c.29726-40T>G 0.808307 0.9712 0.715559 0.7286 0.9834 Uncertain 15_42170506_C->T 15 42170506 42170506 C T snp 736.77 0/1 99 45 17 28 0.62 intronic rs747780 SPTBN5 AU NM_016642 exon52 c.29726-33C>T 0.448882 0.6974 0.410091 0.4859 0.7099 Uncertain 15_42170578_G->A 15 42170578 42170578 G A snp 1967.77 0/1 99 159 81 78 0.49 exonic rs747779 SPTBN5 AU synonymous SNV NM_016642 exon17 c.C3432T p.H1144H 0.120008 0.1905 0.080960 0.0733 0.1860 Uncertain 15_42170841_T->C 15 42170841 42170841 T C snp 1036.77 0/1 99 91 50 41 0.45 intronic rs1197680 SPTBN5 AU NM_016642 exon52 c.30014+14T>C 0.129992 0.1935 0.088707 0.0892 0.2181 Uncertain 15_42171483_G->A 15 42171483 42171483 G A snp 772.77 0/1 99 71 39 32 0.45 exonic rs1197682 SPTBN5 AU nonsynonymous SNV NM_016642 exon16 c.C3157T p.H1053Y 0.128994 0.1954 0.090727 0.0784 0.2021 0.07 T 0.0 P -1.021 T Pathogenic 15_42171537_A->G 15 42171537 42171537 A G snp 2213.77 1/1 99 78 0 78 1.0 exonic rs1197683 SPTBN5 AU nonsynonymous SNV NM_016642 exon16 c.T3103C p.C1035R 0.879992 0.9712 0.860546 0.8744 0.9843 0.9 T 0.0 P -0.956 T Pathogenic 15_42171751_C->T 15 42171751 42171751 C T snp 727.77 0/1 99 48 20 28 0.58 intronic rs567581782 SPTBN5 AU NM_016642 exon53 c.30884+54C>T 0.000199681 Uncertain 15_42171844_T->C 15 42171844 42171844 T C snp 74.77 0/1 99 8 5 3 0.38 intronic rs1197684 SPTBN5 AU NM_016642 exon54 c.31118-87T>C 0.130791 0.1964 Uncertain 15_42171877_A->G 15 42171877 42171877 A G snp 774.77 1/1 57 21 0 21 1.0 intronic rs1197685 SPTBN5 AU NM_016642 exon54 c.31118-54A>G 0.880591 0.9702 Uncertain 15_42172166_T->C 15 42172166 42172166 T C snp 1274.77 0/1 99 113 64 49 0.43 intronic rs1197686 SPTBN5 AU NM_016642 exon54 c.31249+104T>C 0.13119 0.1974 Uncertain 15_42175104_G->C 15 42175104 42175104 G C snp 176.9 1/1 15 5 0 5 1.0 intronic rs1197691 SPTBN5 AU NM_016642 exon60 c.34380-89G>C 0.678714 0.9167 Uncertain 15_42175507_T->C 15 42175507 42175507 T C snp 5330.77 1/1 99 190 0 190 1.0 intronic rs1197692 SPTBN5 AU NM_016642 exon61 c.34732-38T>C 0.870807 0.9702 0.847160 0.8528 0.9835 Uncertain 15_42178122_T->C 15 42178122 42178122 T C snp 4958.77 1/1 99 182 1 181 0.99 exonic rs2280016 SPTBN5 AU nonsynonymous SNV NM_016642 exon7 c.A1331G p.D444G 0.0784744 0.1974 0.036088 0.1154 0.3141 0.14 T 0.573 P -1.134 T 1.0 D 0.982 D Pathogenic 15_42178155_T->C 15 42178155 42178155 T C snp 4389.77 1/1 99 159 0 159 1.0 exonic rs1210795 SPTBN5 AU nonsynonymous SNV NM_016642 exon7 c.A1298G p.H433R 0.872604 0.9762 0.845204 0.8543 0.9825 0.91 T 0.0 P -0.983 T Pathogenic 15_42179711_C->T 15 42179711 42179711 C T snp 482.77 1/1 36 18 0 18 1.0 intronic rs55913027 SPTBN5 AU NM_016642 exon63 c.38826+72C>T 0.0760783 0.2034 Uncertain 15_42185297_-->CCCAT 15 42185297 42185297 - CCCAT indel 10970.7 1/1 99 145 0 145 1.0 intronic rs374427556 SPTBN5 AU NM_016642 exon66 c.44446+38insCCCAT 0.0792732 0.2044 0.032114 0.0477 0.1995 Uncertain 15_42185439_C->G 15 42185439 42185439 C G snp 3019.77 1/1 99 105 0 105 1.0 intronic rs1672459 SPTBN5 AU NM_016642 exon67 c.44666-40C>G 0.529353 0.8978 0.450943 0.5337 0.9081 Uncertain 15_42187492_T->C 15 42187492 42187492 T C snp 5945.77 1/1 99 220 0 220 1.0 intergenic rs1197701 SPTBN5 AU 0.315495 0.3065 0.3293 0.3384 0 D -0.972 T Uncertain 15_42187661_T->C 15 42187661 42187661 T C snp 763.77 1/1 57 19 0 19 1.0 intergenic rs1704380 SPTBN5 AU 0.901158 0.9792 Uncertain 15_42235173_G->A 15 42235173 42235173 G A snp 2105.77 1/1 99 69 0 69 1.0 intronic rs11631075 EHD4 AU NM_139265 exon4 c.42422-91G>A 0.385982 0.5794 0.4505 0.5648 Uncertain 15_42276176_T->C 15 42276176 42276176 T C snp 580.77 0/1 99 41 18 23 0.56 splicing rs1704348 PLA2G4E AU NM_001206670 exon1 c.221+4T>C 0.451478 0.2927 0.386531 0.3950 0.3438 Pathogenic 15_42277933_T->C 15 42277933 42277933 T C snp 40.77 0/1 69 5 3 2 0.4 ncRNA_intronic rs1704350 PLA2G4E-AS1 AU 0.473243 0.3353 Uncertain 15_42281719_G->A 15 42281719 42281719 G A snp 2526.77 0/1 99 220 111 109 0.5 exonic rs1668579 PLA2G4E AU synonymous SNV NM_001206670 exon15 c.C1617T p.G539G 0.423722 0.2927 0.370891 0.3314 0.3039 Uncertain 15_42281790_A->G 15 42281790 42281790 A G snp 1680.77 0/1 99 120 52 68 0.57 ncRNA_intronic rs1530837 PLA2G4E-AS1 AU 0.292732 0.2748 0.220264 0.2264 0.2868 Uncertain 15_42287578_G->A 15 42287578 42287578 G A snp 1334.77 0/1 99 122 66 56 0.46 exonic rs1668586 PLA2G4E AU synonymous SNV NM_001206670 exon12 c.C1227T p.T409T 0.658347 0.5704 0.779737 0.7695 0.5577 Uncertain 15_42287606_T->C 15 42287606 42287606 T C snp 1341.77 0/1 99 124 61 63 0.51 exonic rs4924595 PLA2G4E AU nonsynonymous SNV NM_001206670 exon12 c.A1199G p.N400S 0.0874601 0.2183 0.042708 0.0783 0.2316 0.06 T 0.028 P -1.057 T 0.973 D 0.867 D Pathogenic 15_42292070_C->T 15 42292070 42292070 C T snp 1390.77 0/1 99 130 66 64 0.49 intronic rs8029852 PLA2G4E AU NM_001206670 exon12 c.16163-44C>T 0.127796 0.2222 0.070315 0.0722 0.2552 Uncertain 15_42292517_C->A 15 42292517 42292517 C A snp 566.77 0/1 38 25 4 21 0.84 intronic rs16972418 PLA2G4E AU NM_001206670 exon13 c.16529+37C>A 0.114816 0.1696 0.091123 0.1572 0.1856 Uncertain 15_42292532_T->C 15 42292532 42292532 T C snp 695.77 1/1 51 24 0 24 1.0 intronic rs1668557 PLA2G4E AU NM_001206670 exon13 c.16529+52T>C 0.927915 0.9315 0.955079 Uncertain 15_42293638_G->T 15 42293638 42293638 G T snp 52.74 1/1 6 2 0 2 1.0 intronic rs1668555 PLA2G4E AU NM_001206670 exon14 c.17467+220G>T 0.948682 0.9315 Uncertain 15_42297046_A->G 15 42297046 42297046 A G snp 2922.77 1/1 99 105 0 105 1.0 intronic rs16952433 PLA2G4E AU NM_001206670 exon16 c.21184-89A>G 0.348642 0.4821 Uncertain 15_42297113_C->- 15 42297113 42297113 C - indel 3614.73 1/1 99 97 0 97 1.0 intronic rs56992469 PLA2G4E AU NM_001206670 exon16 c.21184-22delC 0.347843 0.4821 0.234541 0.2428 0.4792 Uncertain 15_42298078_A->G 15 42298078 42298078 A G snp 343.78 1/1 27 10 0 10 1.0 intronic rs7162042 PLA2G4E AU NM_001206670 exon17 c.22236-109A>G 0.349641 0.4851 Uncertain 15_42298133_A->G 15 42298133 42298133 A G snp 1203.77 1/1 87 37 0 37 1.0 intronic rs1704366 PLA2G4E AU NM_001206670 exon17 c.22236-54A>G 0.948482 0.9315 Uncertain 15_42302338_A->C 15 42302338 42302338 A C snp 238.77 0/1 99 101 86 15 0.15 intronic rs28736629 PLA2G4E AU NM_001206670 exon18 c.24112+2275A>C 0.00638978 0.001 0.2560 0.2569 Uncertain 15_42302433_A->G 15 42302433 42302433 A G snp 858.77 0/1 99 135 96 39 0.29 intronic rs9920802 PLA2G4E AU NM_001206670 exon18 c.24112+2370A>G 0.417931 0.3919 0.360017 0.3777 0.3660 0.03 T 0.0 P -0.955 T 0.0 T 0.0 T Uncertain 15_42302437_G->C 15 42302437 42302437 G C snp 938.77 0/1 99 138 97 41 0.3 intronic rs9920824 PLA2G4E AU NM_001206670 exon18 c.24112+2374G>C 0.417931 0.3919 0.350968 0.3770 0.3662 Uncertain 15_42302520_C->T 15 42302520 42302520 C T snp 817.77 0/1 99 90 50 40 0.44 intronic rs9919954 PLA2G4E AU NM_001206670 exon18 c.24112+2457C>T 0.252995 0.2163 Uncertain 15_42302590_A->G 15 42302590 42302590 A G snp 364.77 0/1 99 30 18 12 0.4 intronic rs1668568 PLA2G4E AU NM_001206670 exon18 c.24112+2527A>G 0.515775 0.5387 Uncertain 15_42305698_C->A 15 42305698 42305698 C A snp 73.78 0/1 24 4 1 3 0.75 intronic rs1628549 PLA2G4E AU NM_001206670 exon19 c.29931-184C>A 0.655152 0.8016 Uncertain 15_42305726_G->A 15 42305726 42305726 G A snp 71.77 0/1 99 9 6 3 0.33 intronic rs16972456 PLA2G4E AU NM_001206670 exon19 c.29931-156G>A 0.150759 0.1151 Uncertain 15_42305769_G->A 15 42305769 42305769 G A snp 911.77 1/1 66 27 0 27 1.0 intronic rs75965569 PLA2G4E AU NM_001206670 exon19 c.29931-113G>A 0.764177 0.9177 Uncertain 15_42305770_C->T 15 42305770 42305770 C T snp 900.77 1/1 66 27 0 27 1.0 intronic rs76383211 PLA2G4E AU NM_001206670 exon19 c.29931-112C>T 0.764177 0.9177 Uncertain 15_42305773_A->G 15 42305773 42305773 A G snp 939.77 1/1 69 29 0 29 1.0 intronic rs62004282 PLA2G4E AU NM_001206670 exon19 c.29931-109A>G 0.730431 0.872 Uncertain 15_42305852_-->GAG 15 42305852 42305852 - GAG indel 4491.73 1/1 99 77 0 77 1.0 intronic rs10625152 PLA2G4E AU NM_001206670 exon19 c.29931-30insGAG 0.724441 0.9177 0.6777 0.9256 Uncertain 15_42305998_T->C 15 42305998 42305998 T C snp 663.77 0/1 99 64 33 31 0.48 intronic rs1668565 PLA2G4E AU NM_001206670 exon19 c.30004+43T>C 0.596046 0.8016 0.5923 0.8136 Uncertain 15_42306015_G->A 15 42306015 42306015 G A snp 634.77 0/1 99 46 20 26 0.57 intronic rs1668564 PLA2G4E AU NM_001206670 exon19 c.30004+60G>A 0.594848 0.8016 Uncertain 15_42311454_T->G 15 42311454 42311454 T G snp 348.78 1/1 27 11 0 11 1.0 intronic rs2724935 PLA2G4E AU NM_001206670 exon19 c.30004+5499T>G 0.883387 0.9306 Uncertain 15_42342818_G->A 15 42342818 42342818 G A snp 826.77 0/1 99 68 32 36 0.53 exonic rs1668545 PLA2G4E AU synonymous SNV NM_001206670 exon1 c.C84T p.G28G 0.104233 0.1081 0.1425 0.1029 Uncertain 15_42342824_T->G 15 42342824 42342824 T G snp 776.77 0/1 99 66 32 34 0.52 exonic rs1668546 PLA2G4E AU nonsynonymous SNV NM_001206670 exon1 c.A78C p.E26D 0.104233 0.1081 0.1425 0.1029 0.09 T 0.167 P -0.891 T Pathogenic 15_42362298_T->G 15 42362298 42362298 T G snp 359.77 0/1 99 41 25 16 0.39 splicing rs12906547 PLA2G4D AU NM_178034 exon2 c.1381+5T>G 0.29393 0.4127 0.224186 0.2830 0.4601 Pathogenic 15_42362821_C->G 15 42362821 42362821 C G snp 1021.77 0/1 99 71 35 36 0.51 intronic rs2459692 PLA2G4D AU NM_178034 exon3 c.2002-93C>G 0.779952 0.7946 Uncertain 15_42363769_A->G 15 42363769 42363769 A G snp 2333.77 1/1 99 74 0 74 1.0 intronic rs1668589 PLA2G4D AU NM_178034 exon5 c.2837+20A>G 0.640176 0.5833 0.710627 0.7382 0.5985 Uncertain 15_42364329_A->C 15 42364329 42364329 A C snp 150.77 0/1 98 8 3 5 0.63 intronic rs1712401 PLA2G4D AU NM_178034 exon7 c.3560-143A>C 0.303315 0.2073 Uncertain 15_42364362_G->A 15 42364362 42364362 G A snp 217.77 0/1 99 27 16 11 0.41 intronic rs1668588 PLA2G4D AU NM_178034 exon7 c.3560-110G>A 0.103834 0.1101 Uncertain 15_42364652_G->A 15 42364652 42364652 G A snp 86.77 0/1 30 4 1 3 0.75 intronic rs1668587 PLA2G4D AU NM_178034 exon7 c.3678+62G>A 0.8123 0.8899 Uncertain 15_42371752_A->T 15 42371752 42371752 A T snp 332.77 0/1 99 30 17 13 0.43 exonic rs4924618 PLA2G4D AU nonsynonymous SNV NM_178034 exon13 c.T1300A p.S434T 0.29992 0.3958 0.295738 0.3901 0.4622 0.37 T 0.016 P -0.951 T 0.173 T 0.033 T Pathogenic 15_42373810_G->C 15 42373810 42373810 G C snp 1938.77 0/1 99 144 63 81 0.56 exonic rs11635685 PLA2G4D AU nonsynonymous SNV NM_178034 exon11 c.C824G p.P275R 0.296725 0.4127 0.288757 0.3570 0.4378 0.06 T 1.0 P -0.962 T 0.026 T 0.018 T Pathogenic 15_42376212_C->T 15 42376212 42376212 C T snp 99.28 1/1 9 3 0 3 1.0 intronic rs776729 PLA2G4D AU NM_178034 exon14 c.15065+235C>T 0.997604 1 Uncertain 15_42377744_C->G 15 42377744 42377744 C G snp 2086.77 1/1 99 75 0 75 1.0 intronic rs605253 PLA2G4D AU NM_178034 exon16 c.16817+15C>G 0.664337 0.6062 0.725623 0.7437 0.6279 Uncertain 15_42433382_A->T 15 42433382 42433382 A T snp 3881.77 1/1 99 144 1 143 0.99 UTR3 rs694456 PLA2G4F AU 0.421526 0.3115 Uncertain 15_42434254_G->A 15 42434254 42434254 G A snp 2615.77 1/1 99 95 0 95 1.0 exonic rs655427 PLA2G4F AU synonymous SNV NM_213600 exon20 c.C2478T p.N826N 0.399361 0.3452 0.488696 0.4677 0.3308 Uncertain 15_42434336_G->C 15 42434336 42434336 G C snp 1468.77 0/1 99 138 73 65 0.47 exonic rs75560163 PLA2G4F AU nonsynonymous SNV NM_213600 exon20 c.C2396G p.P799R 0.0183706 0.0744 0.001077 0.0120 0.0953 0.01 T 0.997 D -1.242 T 0.993 D 0.873 D Pathogenic 15_42434505_C->A 15 42434505 42434505 C A snp 679.77 1/1 51 20 0 20 1.0 intronic rs654527 PLA2G4F AU NM_213600 exon1 c.221+103C>A 0.72504 0.498 Uncertain 15_42434837_T->C 15 42434837 42434837 T C snp 6210.77 1/1 99 225 0 225 1.0 exonic rs1356410 PLA2G4F AU nonsynonymous SNV NM_213600 exon19 c.A2218G p.M740V 0.814297 0.87 0.725469 0.7457 0.8811 0.24 T 0.0 P -1.019 T 0.0 T 0.0 T Pathogenic 15_42436002_C->T 15 42436002 42436002 C T snp 37.77 0/1 66 5 2 3 0.6 intronic rs649526 PLA2G4F AU NM_213600 exon3 c.1994-173C>T 0.451877 0.6488 Uncertain 15_42436043_G->A 15 42436043 42436043 G A snp 268.77 0/1 99 16 6 10 0.63 intronic rs681264 PLA2G4F AU NM_213600 exon3 c.1994-132G>A 0.513978 0.6518 Uncertain 15_42436599_T->C 15 42436599 42436599 T C snp 88.77 0/1 33 6 2 4 0.67 intronic rs636535 PLA2G4F AU NM_213600 exon4 c.2466-48T>C 0.615016 0.381 0.745962 0.6308 0.3730 Uncertain 15_42437711_T->C 15 42437711 42437711 T C snp 376.77 0/1 99 32 19 13 0.41 intronic rs621560 PLA2G4F AU NM_213600 exon5 c.3591-61T>C 0.414137 0.2103 Uncertain 15_42438509_C->T 15 42438509 42438509 C T snp 611.77 0/1 99 44 21 23 0.52 intronic rs12593970 PLA2G4F AU NM_213600 exon7 c.4258+70C>T 0.0790735 0.1081 Uncertain 15_42439376_G->A 15 42439376 42439376 G A snp 760.77 0/1 99 80 47 33 0.41 exonic rs4923929 PLA2G4F AU synonymous SNV NM_213600 exon13 c.C1365T p.S455S 0.409744 0.246 0.492618 0.4376 0.2542 Uncertain 15_42440165_G->C 15 42440165 42440165 G C snp 46.77 0/1 33 3 1 2 0.67 intronic rs80168211 PLA2G4F AU NM_213600 exon9 c.5779+205G>C 0.21885 0.0952 Uncertain 15_42441711_G->A 15 42441711 42441711 G A snp 38.77 0/1 67 5 3 2 0.4 intronic rs8033080 PLA2G4F AU NM_213600 exon10 c.7729-199G>A 0.399161 0.1964 Uncertain 15_42445654_A->G 15 42445654 42445654 A G snp 752.77 0/1 99 57 30 27 0.47 intronic rs1703754 PLA2G4F AU NM_213600 exon15 c.11359+114A>G 0.328275 0.1974 Uncertain 15_42445679_T->A 15 42445679 42445679 T A snp 781.77 0/1 99 56 29 27 0.48 intronic rs681029 PLA2G4F AU NM_213600 exon16 c.11636-138T>A 0.278355 0.1974 Uncertain 15_42445724_C->G 15 42445724 42445724 C G snp 819.77 0/1 99 83 49 34 0.41 intronic rs624841 PLA2G4F AU NM_213600 exon16 c.11636-93C>G 0.328075 0.1974 Uncertain 15_42445987_A->G 15 42445987 42445987 A G snp 221.77 0/1 99 13 6 7 0.54 intronic rs1624183 PLA2G4F AU NM_213600 exon16 c.11677+129A>G 0.339058 0.1974 Uncertain 15_42446158_G->C 15 42446158 42446158 G C snp 54.74 1/1 6 2 0 2 1.0 intronic rs622714 PLA2G4F AU NM_213600 exon17 c.12108-131G>C 0.336661 0.1974 Uncertain 15_42446208_C->T 15 42446208 42446208 C T snp 274.77 0/1 94 12 3 9 0.75 intronic rs678778 PLA2G4F AU NM_213600 exon17 c.12108-81C>T 0.338458 0.1974 Uncertain 15_42446362_A->G 15 42446362 42446362 A G snp 1037.77 0/1 99 90 49 41 0.46 exonic rs677895 PLA2G4F AU synonymous SNV NM_213600 exon4 c.T378C p.S126S 0.0830671 0.0853 0.037988 0.0409 0.0773 Uncertain 15_42446398_G->A 15 42446398 42446398 G A snp 1142.77 0/1 99 107 59 48 0.45 exonic rs677845 PLA2G4F AU synonymous SNV NM_213600 exon4 c.C342T p.L114L 0.0680911 0.0853 0.024454 0.0368 0.0772 Uncertain 15_42447540_AT->- 15 42447540 42447541 AT - indel 232.73 0/1 99 11 5 6 0.55 intronic rs150161514 PLA2G4F AU NM_213600 exon19 c.13533-174_13533-173delAT 0.0828674 0.0853 Uncertain 15_42448659_C->A 15 42448659 42448659 C A snp 2619.77 0/1 99 249 131 118 0.47 exonic rs636604 PLA2G4F AU nonsynonymous SNV NM_213600 exon1 c.G89T p.G30V 0.096246 0.0853 0.042914 0.0768 0.1711 0.04 T 0.000 P -0.916 T 0.22 T 0.08 T Pathogenic 15_42448869_A->G 15 42448869 42448869 A G snp 46.77 0/1 31 3 1 2 0.67 upstream rs635690 PLA2G4F AU 0.100639 0.0853 Uncertain 15_42454464_A->G 15 42454464 42454464 A G snp 711.77 0/1 99 102 72 30 0.29 intronic rs588695 VPS39 AU NM_001301138 exon4 c.1578-65A>G 0.112021 0.0823 Uncertain 15_42454701_T->C 15 42454701 42454701 T C snp 1086.77 0/1 99 98 54 44 0.45 intronic rs1712390 VPS39 AU NM_001301138 exon4 c.1728+22T>C 0.111022 0.0843 0.061750 0.0548 0.0776 Uncertain 15_42458347_T->C 15 42458347 42458347 T C snp 1626.77 0/1 99 123 55 68 0.55 intronic rs663454 VPS39 AU NM_001301138 exon10 c.5405-9T>C 0.160942 0.0843 0.118118 0.1286 0.0769 Uncertain 15_42459034_T->C 15 42459034 42459034 T C snp 2312.77 0/1 99 161 71 90 0.56 exonic rs1619030 VPS39 AU synonymous SNV NM_015289 exon14 c.A1455G p.L485L 0.398363 0.1815 0.304291 0.2447 0.1786 Uncertain 15_42462168_A->- 15 42462168 42462168 A - indel 90.75 0/1 24 10 2 8 0.8 intronic rs200898817 VPS39 AU NM_001301138 exon14 c.9113+104delA Uncertain 15_42479406_T->C 15 42479406 42479406 T C snp 471.77 0/1 99 27 6 21 0.78 intronic rs613131 VPS39 AU NM_001301138 exon19 c.26517-62T>C 0.185703 0.0853 Uncertain 15_42480150_C->A 15 42480150 42480150 C A snp 296.77 0/1 99 24 13 11 0.46 intronic rs609660 VPS39 AU NM_001301138 exon20 c.27103+96C>A 0.177915 0.0853 Uncertain 15_42483200_T->C 15 42483200 42483200 T C snp 159.77 0/1 63 7 2 5 0.71 intronic rs672946 VPS39 AU NM_001301138 exon22 c.30371-122T>C 0.0830671 0.0833 Uncertain 15_42483455_C->T 15 42483455 42483455 C T snp 1170.77 0/1 99 101 49 52 0.51 intronic rs635919 VPS39 AU NM_001301138 exon22 c.30414+90C>T 0.183706 0.0843 Uncertain 15_42483769_C->G 15 42483769 42483769 C G snp 468.77 0/1 99 53 31 22 0.42 intronic rs647581 VPS39 AU NM_001301138 exon23 c.30807+11C>G 0.183706 0.0843 0.141286 0.1341 0.0767 Uncertain 15_42483779_C->T 15 42483779 42483779 C T snp 396.77 0/1 99 48 28 20 0.42 intronic rs660033 VPS39 AU NM_001301138 exon23 c.30807+21C>T 0.183706 0.0843 0.141132 0.1342 0.0765 Uncertain 15_42484469_G->T 15 42484469 42484469 G T snp 223.77 0/1 99 11 4 7 0.64 intronic rs1703750 VPS39 AU NM_001301138 exon24 c.31345+173G>T 0.396565 0.1815 Uncertain 15_42491848_A->C 15 42491848 42491848 A C snp 1119.77 0/1 99 107 54 53 0.5 ncRNA_exonic rs2620381 MIR627 AU 0.0840655 0.0863 0.027868 0.0479 0.0826 Uncertain 15_42492179_-->A 15 42492179 42492179 - A indel 228.73 0/1 99 38 15 23 0.61 intronic rs372749604 VPS39 AU NM_001301138 exon25 c.39208+20insA 0.0266 0.0362 Uncertain 15_42492185_C->A 15 42492185 42492185 C A snp 392.77 0/1 99 33 15 18 0.55 intronic rs2928335 VPS39 AU NM_001301138 exon25 c.39208+26C>A 0.386981 0.1815 0.2209 0.1544 Uncertain 15_42519136_T->C 15 42519136 42519136 T C snp 741.77 0/1 99 55 22 33 0.6 intronic rs1678988 TMEM87A AU NM_001286487 exon6 c.15202+29T>C 0.902356 0.9177 0.946401 0.9547 0.9243 Uncertain 15_42520760_C->T 15 42520760 42520760 C T snp 689.77 0/1 99 45 18 27 0.6 intronic rs1678987 TMEM87A AU NM_001286487 exon8 c.17004-149C>T 0.902556 0.9177 Uncertain 15_42520829_T->C 15 42520829 42520829 T C snp 2078.77 0/1 99 169 80 89 0.53 intronic rs1712417 TMEM87A AU NM_001286487 exon8 c.17004-80T>C 0.916933 0.9177 Uncertain 15_42523341_-->C 15 42523341 42523341 - C indel 4926.73 1/1 99 118 0 118 1.0 intronic rs397725100 TMEM87A AU NM_001286487 exon9 c.19482-46insC 1 1 1.0000 1 Uncertain 15_42524065_T->C 15 42524065 42524065 T C snp 1049.77 0/1 99 122 73 49 0.4 intronic rs1630294 TMEM87A AU NM_001286487 exon9 c.19553+607T>C 0.902756 0.9187 0.9658 0.9040 Uncertain 15_42524165_C->T 15 42524165 42524165 C T snp 704.77 0/1 99 82 48 34 0.41 intronic rs1712420 TMEM87A AU NM_001286487 exon9 c.19553+707C>T 0.902756 0.9187 Uncertain 15_42528676_C->T 15 42528676 42528676 C T snp 1359.77 0/1 99 109 52 57 0.52 intronic rs1679012 TMEM87A AU NM_001286487 exon11 c.24712+59C>T 0.530751 0.8185 Uncertain 15_42531768_C->T 15 42531768 42531768 C T snp 565.77 0/1 99 43 20 23 0.53 intronic rs11070363 TMEM87A AU NM_001286487 exon13 c.27962-99C>T 0.902356 0.9177 Uncertain 15_42553219_T->- 15 42553219 42553219 T - indel 758.73 0/1 99 45 22 23 0.51 intronic rs5812215 TMEM87A AU NM_001286487 exon15 c.49295+19delT 0.913339 0.9415 0.938129 0.9640 0.9411 Uncertain 15_42560312_C->T 15 42560312 42560312 C T snp 841.77 0/1 99 55 24 31 0.56 intronic rs2412681 TMEM87A AU NM_001286487 exon18 c.56325+82C>T 0.913938 0.9415 Uncertain 15_42564369_C->T 15 42564369 42564369 C T snp 588.77 0/1 99 70 46 24 0.34 intronic rs4244587 TMEM87A AU NM_001110503 exon6 c.13175+48C>T 0.64357 0.8413 0.716270 0.7835 0.8436 Uncertain 15_42564370_A->G 15 42564370 42564370 A G snp 550.77 0/1 99 71 47 24 0.34 intronic rs4244588 TMEM87A AU NM_001110503 exon6 c.13175+49A>G 0.914337 0.9415 0.939873 0.9728 0.9466 Uncertain 15_42564902_A->C 15 42564902 42564902 A C snp 548.77 1/1 42 16 0 16 1.0 intronic rs7181758 TMEM87A AU NM_001286487 exon19 c.61547-550A>C 0.997804 1 Uncertain 15_42568547_C->G 15 42568547 42568547 C G snp 529.77 0/1 99 50 25 25 0.5 exonic rs8043515 GANC AU nonsynonymous SNV NM_001301410 exon2 c.C31G p.L11V 0.954473 0.9415 0.979391 0.9837 0.9474 1 T 0.0 P -0.986 T 0.0 T 0.0 T Pathogenic 15_42568630_G->A 15 42568630 42568630 G A snp 221.77 0/1 99 22 12 10 0.45 intronic rs8023678 GANC AU NM_001301409 exon3 c.1929+22G>A 0.906949 0.9415 0.932634 0.9713 0.9473 Uncertain 15_42570201_A->G 15 42570201 42570201 A G snp 229.77 0/1 99 27 14 13 0.48 intronic rs12916523 GANC AU NM_001301409 exon4 c.4000-478A>G 0.894768 0.9415 0.9677 0.9318 Uncertain 15_42570718_A->G 15 42570718 42570718 A G snp 2531.77 0/1 99 228 118 110 0.48 exonic rs8024732 GANC AU nonsynonymous SNV NM_001301410 exon3 c.A131G p.Q44R 0.644369 0.8423 0.717548 0.7816 0.8411 1 T 0.089 P -0.981 T 0.0 T 0.001 T Pathogenic 15_42573067_C->T 15 42573067 42573067 C T snp 71.77 0/1 99 10 7 3 0.3 intronic rs8037020 GANC AU NM_001301410 exon4 c.6435-47C>T 0.634385 0.8423 0.7234 0.8154 Uncertain 15_42575963_A->G 15 42575963 42575963 A G snp 1804.77 0/1 99 202 121 81 0.4 exonic rs2412689 GANC AU nonsynonymous SNV NM_001301410 exon5 c.A573G p.I191M 0.954473 0.9415 0.9726 0.9318 0.08 T 0.0 P -1.030 T 0.0 T 0.0 T Pathogenic 15_42579822_T->C 15 42579822 42579822 T C snp 630.77 0/1 99 49 25 24 0.49 intronic rs11070371 GANC AU NM_001301409 exon5 c.13209-66T>C 0.953474 0.9415 Uncertain 15_42579948_T->C 15 42579948 42579948 T C snp 2838.77 0/1 99 250 134 116 0.46 exonic rs8037627 GANC AU synonymous SNV NM_198141 exon4 c.T261C p.N87N 0.872404 0.9415 0.903030 0.9625 0.9469 Uncertain 15_42580106_A->C 15 42580106 42580106 A C snp 1063.77 0/1 99 73 34 39 0.53 intronic rs8036596 GANC AU NM_001301409 exon5 c.13337+90A>C 0.645367 0.8423 Uncertain 15_42584909_C->T 15 42584909 42584909 C T snp 1951.77 0/1 99 175 91 84 0.48 intronic rs4923939 GANC AU NM_001301409 exon6 c.18253-23C>T 0.946286 0.9415 0.970163 0.9812 0.9474 Uncertain 15_42589722_A->G 15 42589722 42589722 A G snp 325.77 0/1 99 24 11 13 0.54 intronic GANC AU NM_001301409 exon7 c.23129-86A>G Uncertain 15_42589987_T->C 15 42589987 42589987 T C snp 436.77 0/1 99 33 17 16 0.48 intronic rs4924651 GANC AU NM_001301409 exon7 c.23175+133T>C 0.872404 0.9415 Uncertain 15_42589996_C->T 15 42589996 42589996 C T snp 330.77 0/1 99 27 15 12 0.44 intronic rs4924652 GANC AU NM_001301409 exon7 c.23175+142C>T 0.872404 0.9415 Uncertain 15_42603083_C->T 15 42603083 42603083 C T snp 1217.77 0/1 99 133 82 51 0.38 intronic rs2412694 GANC AU NM_001301409 exon11 c.36365+39C>T 0.884784 0.9415 0.915411 0.9661 0.9474 Uncertain 15_42606094_A->G 15 42606094 42606094 A G snp 51.77 0/1 80 11 8 3 0.27 intronic rs7173358 GANC AU NM_001301409 exon12 c.39598-183A>G 0.872404 0.9415 Uncertain 15_42606153_-->AACAACAACAAC 15 42606153 42606153 - AACAACAACAAC indel 1272.73 0/1 99 34 24 10 0.29 intronic rs141877658 GANC AU NM_001301409 exon12 c.39598-124insAACAACAACAAC 0.384784 0.3373 Uncertain 15_42606161_G->A 15 42606161 42606161 G A snp 742.77 0/1 99 55 28 27 0.49 intronic rs11637731 GANC AU NM_001301409 exon12 c.39598-116G>A 0.937899 0.9415 Uncertain 15_42619508_C->T 15 42619508 42619508 C T snp 1619.77 0/1 99 123 59 64 0.52 intronic rs1659215 GANC AU NM_198141 exon13 c.52881-52C>T 0.870807 0.9395 0.899649 Uncertain 15_42640302_T->A 15 42640302 42640302 T A snp 875.77 0/1 99 95 55 40 0.42 exonic rs79004308 GANC AU nonsynonymous SNV NM_198141 exon21 c.T2306A p.I769N 0.0235623 0.0456 0.000231 0.0093 0.0390 0 D 1 D 0.316 D 0.518 P 0.794 P Pathogenic 15_42641756_TCAAA->- 15 42641756 42641760 TCAAA - indel 2403.73 0/1 99 69 25 44 0.64 intronic rs398099752 GANC AU NM_198141 exon22 c.75014+63_75014+67delTCAAA 0.322484 0.1577 Uncertain 15_42643529_T->C 15 42643529 42643529 T C snp 699.77 0/1 99 79 46 33 0.42 exonic rs7181742 GANC AU nonsynonymous SNV NM_198141 exon23 c.T2534C p.F845S 0.378395 0.1577 0.304368 0.2251 0.1588 1 T 1.000 P -0.925 T 0.0 T 0.0 T Pathogenic 15_42678596_G->T 15 42678596 42678596 G T snp 335.77 0/1 99 16 5 11 0.69 intronic rs28364400 CAPN3 AR NM_173087 exon3 c.26480+113G>T 0.0535144 0.0585 Uncertain 15_42684680_C->G 15 42684680 42684680 C G snp 317.77 0/1 99 22 8 14 0.64 intronic rs12324205 CAPN3 AR NM_173087 exon6 c.32833-156C>G 0.163538 0.0476 Uncertain 15_42688772_A->G 15 42688772 42688772 A G snp 48.74 1/1 6 2 0 2 1.0 intronic rs3115877 CAPN3 AR NM_173087 exon8 c.36994-225A>G 0.97524 1 Uncertain 15_42691664_C->G 15 42691664 42691664 C G snp 1273.77 0/1 99 116 53 63 0.54 intronic rs3743003 CAPN3 AR NM_173087 exon9 c.39686-25C>G 0.150559 0.0655 0.137496 0.0661 0.0539 Uncertain 15_42691946_G->A 15 42691946 42691946 G A snp 54.74 1/1 6 2 0 2 1.0 intronic rs3743002 CAPN3 AR NM_173087 exon9 c.39847+96G>A 0.0776757 0.0595 Uncertain 15_42693674_C->G 15 42693674 42693674 C G snp 50.74 1/1 6 2 0 2 1.0 intronic rs559361869 CAPN3 AR NM_173087 exon10 c.41835-164C>G 0.246206 0.1111 Uncertain 15_42693683_C->T 15 42693683 42693683 C T snp 120.03 1/1 12 4 0 4 1.0 intronic rs28364482 CAPN3 AR NM_173087 exon10 c.41835-155C>T 0.216653 0.1438 Uncertain 15_42694466_T->C 15 42694466 42694466 T C snp 213.77 0/1 99 18 10 8 0.44 intronic rs28364491 CAPN3 AR NM_173087 exon11 c.42330+133T>C 0.0778754 0.0595 Uncertain 15_42694944_T->C 15 42694944 42694944 T C snp 1664.77 1/1 99 49 0 49 1.0 intronic rs2241827 CAPN3 AR NM_173087 exon12 c.42988-47T>C 0.719449 0.4127 0.780683 0.6928 0.4243 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000078087.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 15_42696158_A->T 15 42696158 42696158 A T snp 326.77 0/1 99 22 10 12 0.55 intronic rs7163986 CAPN3 AR NM_173087 exon13 c.43972+183A>T 0.342652 0.1746 Uncertain 15_42696238_-->AGAG 15 42696238 42696238 - AGAG indel 1373.73 0/1 99 43 22 21 0.49 intronic rs111814065 CAPN3 AR NM_173087 exon13 c.43972+263insAGAG 0.174321 0.0804 Uncertain 15_42696606_G->T 15 42696606 42696606 G T snp 1942.77 0/1 99 156 72 84 0.54 intronic rs28364500 CAPN3 AR NM_173087 exon13 c.43972+631G>T 0.0972444 0.0595 0.0271 0.0657 Uncertain 15_42698061_C->G 15 42698061 42698061 C G snp 725.77 0/1 99 60 30 30 0.5 intronic rs28364507 CAPN3 AR NM_000070 exon15 c.46120-62C>G 0.0485224 0.0605 Uncertain 15_42698065_C->T 15 42698065 42698065 C T snp 713.77 0/1 99 60 30 30 0.5 intronic rs28364508 CAPN3 AR NM_000070 exon15 c.46120-58C>T 0.0974441 0.0605 Uncertain 15_42698284_G->A 15 42698284 42698284 G A snp 294.77 0/1 99 21 10 11 0.52 intronic rs28364509 CAPN3 AR NM_000070 exon15 c.46138+143G>A 0.0892572 0.0486 Uncertain 15_42700552_G->A 15 42700552 42700552 G A snp 1349.77 0/1 99 94 37 57 0.61 intronic rs2289293 CAPN3 AR NM_024344 exon15 c.48519+30G>A 0.0706869 0.0605 0.052369 0.0266 0.0627 Uncertain 15_42701688_T->C 15 42701688 42701688 T C snp 1757.77 1/1 99 61 0 61 1.0 intronic rs3115883 CAPN3 AR NM_173087 exon14 c.49575+110T>C 0.727835 0.4157 Uncertain 15_42702521_G->C 15 42702521 42702521 G C snp 46.77 0/1 33 3 1 2 0.67 intronic rs28364536 CAPN3 AR NM_173087 exon17 c.50622-104G>C 0.0860623 0.0615 Uncertain 15_42703353_G->C 15 42703353 42703353 G C snp 225.77 0/1 99 25 16 9 0.36 intronic rs28364540 CAPN3 AR NM_173087 exon20 c.51481-131G>C 0.0770767 0.0615 Uncertain 15_42703371_C->G 15 42703371 42703371 C G snp 479.77 0/1 99 37 21 16 0.43 intronic rs28364541 CAPN3 AR NM_173087 exon20 c.51481-113C>G 0.0770767 0.0615 Uncertain 15_42703406_T->C 15 42703406 42703406 T C snp 1119.77 0/1 99 75 32 43 0.57 intronic rs3115884 CAPN3 AR NM_173087 exon20 c.51481-78T>C 0.332468 0.2619 Uncertain 15_42703612_C->T 15 42703612 42703612 C T snp 1118.77 0/1 99 91 43 48 0.53 intronic rs28364544 CAPN3 AR NM_173087 exon20 c.51540+69C>T 0.0770767 0.0615 0.047327 Uncertain 15_42704105_C->T 15 42704105 42704105 C T snp 3135.77 1/1 99 113 0 113 1.0 UTR3 rs3098423 CAPN3 AR 0.991214 1 Uncertain 15_42710219_G->C 15 42710219 42710219 G C snp 596.77 0/1 99 37 17 20 0.54 intronic rs61071861 ZNF106 AU NM_001284306 exon2 c.648+70G>C 0.394968 0.1815 Uncertain 15_42713462_C->T 15 42713462 42713462 C T snp 194.77 0/1 99 10 4 6 0.6 intronic rs62022303 ZNF106 AU NM_001284306 exon3 c.3829+132C>T 0.195487 0.0823 Uncertain 15_42720166_A->G 15 42720166 42720166 A G snp 981.77 0/1 99 78 37 41 0.53 intronic rs78901922 ZNF106 AU NM_001284306 exon8 c.10714-49A>G 0.0533147 0.0764 0.026223 0.0187 0.0713 Uncertain 15_42742464_A->G 15 42742464 42742464 A G snp 1924.77 0/1 99 155 79 76 0.49 exonic rs12101559 ZNF106 AU nonsynonymous SNV NM_022473 exon2 c.T1937C p.I646T 0.24361 0.1776 0.147878 0.0962 0.1779 1 T 0.000 P -0.908 T 0.0 T 0.0 T ID=COSM4148769;OCCURENCE=1(thyroid) Pathogenic 15_42749013_C->T 15 42749013 42749013 C T snp 265.77 0/1 99 31 19 12 0.39 intronic rs57734638 ZNF106 AU NM_022473 exon19 c.39654-142C>T 0.191294 0.1776 Uncertain 15_42749023_G->A 15 42749023 42749023 G A snp 384.77 0/1 99 37 23 14 0.38 intronic rs16973261 ZNF106 AU NM_022473 exon19 c.39654-132G>A 0.242612 0.1776 Uncertain 15_42758159_T->A 15 42758159 42758159 T A snp 341.77 0/1 99 28 14 14 0.5 intronic rs2244773 ZNF106 AU NM_001284307 exon18 c.48749-91T>A 0.945288 0.9256 Uncertain 15_42764519_G->C 15 42764519 42764519 G C snp 4056.77 1/1 99 158 0 158 1.0 splicing rs7177521 ZNF106 AU NM_001284307 exon19 c.55015+3G>C 0.99361 1 0.9985 1 Pathogenic 15_42805000_G->A 15 42805000 42805000 G A snp 304.77 0/1 99 22 10 12 0.55 intronic rs4573906 SNAP23 AU NM_130798 exon3 c.1108-152G>A 0.522764 0.7867 Uncertain 15_42820451_C->T 15 42820451 42820451 C T snp 501.77 0/1 99 61 39 22 0.36 intronic rs9302112 SNAP23 AU NM_003825 exon6 c.16415-8C>T 0.522165 0.7857 0.551984 0.6760 0.7816 Uncertain 15_42851464_C->T 15 42851464 42851464 C T snp 1090.77 1/1 81 32 0 32 1.0 intronic rs11070374 HAUS2 AU NM_001130447 exon2 c.10466-72C>T 0.514776 0.7817 Uncertain 15_42930891_A->T 15 42930891 42930891 A T snp 406.77 0/1 99 65 44 21 0.32 intronic rs1197550 STARD9 AU NM_020759 exon7 c.62984-6A>T 0.744961 0.7030 0.9132 Uncertain 15_42954888_C->T 15 42954888 42954888 C T snp 313.77 0/1 99 23 12 11 0.48 intronic rs7166373 STARD9 AU NM_020759 exon11 c.87078-103C>T 0.448482 0.2321 Uncertain 15_42955967_A->G 15 42955967 42955967 A G snp 2238.77 0/1 99 168 77 91 0.54 intronic rs938047 STARD9 AU NM_020759 exon13 c.88104-50A>G 0.299321 0.0962 0.282209 Uncertain 15_42957373_C->A 15 42957373 42957373 C A snp 705.77 0/1 99 84 51 33 0.39 intronic rs8039765 STARD9 AU NM_020759 exon14 c.89537-77C>A 0.296526 0.0952 Uncertain 15_42957532_T->G 15 42957532 42957532 T G snp 479.77 0/1 99 61 40 21 0.34 splicing rs8024902 STARD9 AU NM_020759 exon14 c.89615+4T>G 0.251997 0.0615 0.247371 0.3007 0.0877 Pathogenic 15_42957984_A->G 15 42957984 42957984 A G snp 1105.77 0/1 99 132 83 49 0.37 exonic rs190947888 STARD9 AU nonsynonymous SNV NM_020759 exon15 c.A1255G p.R419G 0.000599042 0.003 5.707e-05 0.0030 0.982 N -0.990 T Pathogenic 15_42958216_A->G 15 42958216 42958216 A G snp 141.03 1/1 12 4 0 4 1.0 intronic rs34603230 STARD9 AU NM_020759 exon15 c.90133+170A>G 0.251797 0.0615 Uncertain 15_42966288_G->A 15 42966288 42966288 G A snp 989.77 0/1 99 74 34 40 0.54 intronic rs35738819 STARD9 AU NM_020759 exon17 c.98724-349G>A 0.449681 0.2312 Uncertain 15_42977526_A->C 15 42977526 42977526 A C snp 2480.77 0/1 99 247 141 106 0.43 exonic rs6493059 STARD9 AU synonymous SNV NM_020759 exon23 c.A3750C p.A1250A 0.254593 0.0605 0.258764 0.3008 0.0808 Uncertain 15_42977676_G->A 15 42977676 42977676 G A snp 2583.77 0/1 99 248 144 104 0.42 exonic rs6493060 STARD9 AU synonymous SNV NM_020759 exon23 c.G3900A p.Q1300Q 0.447684 0.244 0.392857 0.3407 0.2424 Uncertain 15_42979146_A->G 15 42979146 42979146 A G snp 1974.77 0/1 99 132 52 80 0.61 exonic rs74475031 STARD9 AU synonymous SNV NM_020759 exon23 c.A5370G p.Q1790Q 0.0625 0.0585 0.0516 0.0762 Uncertain 15_42981022_A->G 15 42981022 42981022 A G snp 2720.77 0/1 99 183 78 105 0.57 exonic rs28744617 STARD9 AU nonsynonymous SNV NM_020759 exon23 c.A7246G p.M2416V 0.258586 0.0615 0.266214 0.3088 0.0778 0.23 T 0.0 P -1.030 T Pathogenic 15_42981806_G->A 15 42981806 42981806 G A snp 1866.77 0/1 99 157 84 73 0.46 exonic rs8030587 STARD9 AU nonsynonymous SNV NM_020759 exon23 c.G8030A p.R2677H 0.446086 0.2331 0.392419 0.3768 0.2335 1 T 0.0 P -0.998 T Pathogenic 15_42982340_C->T 15 42982340 42982340 C T snp 1015.77 0/1 99 95 50 45 0.47 exonic rs8031218 STARD9 AU nonsynonymous SNV NM_020759 exon23 c.C8564T p.T2855I 0.314497 0.1677 0.286372 0.3019 0.1807 0.01 T 0.0 P -0.973 T Pathogenic 15_42983923_A->G 15 42983923 42983923 A G snp 2519.77 0/1 99 183 83 100 0.55 exonic rs3742993 STARD9 AU nonsynonymous SNV NM_020759 exon23 c.A10147G p.N3383D 0.242812 0.0615 0.241893 0.2910 0.0778 0.51 T 0.0 P -0.986 T 0.0 T 0.001 T Pathogenic 15_43009448_T->C 15 43009448 43009448 T C snp 83.77 0/1 67 5 2 3 0.6 intronic rs2412740 STARD9 AU NM_020759 exon28 c.141333+202T>C 0.45607 0.2351 Uncertain 15_43011537_G->T 15 43011537 43011537 G T snp 155.77 0/1 66 8 3 5 0.63 intronic rs9919994 STARD9 AU NM_020759 exon33 c.143757-133G>T 0.312899 0.0982 Uncertain 15_43017426_T->G 15 43017426 43017426 T G snp 1298.77 0/1 99 124 68 56 0.45 exonic rs16957091 CDAN1 AR synonymous SNV NM_138477 exon27 c.A3474C p.L1158L 0.461462 0.254 0.430252 0.3038 0.2547 Uncertain 15_43017919_G->A 15 43017919 43017919 G A snp 633.77 0/1 99 39 12 27 0.69 intronic rs6493062 CDAN1 AR NM_138477 exon3 c.1180+51G>A 0.371805 0.1835 0.341281 0.2564 0.1942 Uncertain 15_43018486_G->A 15 43018486 43018486 G A snp 429.77 0/1 99 23 10 13 0.57 intronic rs2305085 CDAN1 AR NM_138477 exon5 c.1819-21G>A 0.249601 0.0496 0.254554 0.2852 0.0890 Uncertain 15_43018691_T->G 15 43018691 43018691 T G snp 434.77 0/1 99 48 28 20 0.42 intronic rs2305084 CDAN1 AR NM_138477 exon5 c.1927+76T>G 0.277955 0.0605 Uncertain 15_43020983_G->A 15 43020983 43020983 G A snp 1804.77 0/1 99 170 88 82 0.48 exonic rs8023524 CDAN1 AR nonsynonymous SNV NM_138477 exon20 c.C2671T p.R891C 0.262979 0.0496 0.269609 0.2158 0.0596 0.05 T 0.836 P -0.995 T 0.993 D 0.491 D CLINSIG=non-pathogenic;CLNDBN=Congenital_dyserythropoietic_anemia\x2c_type_I;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000020955.1;CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT;CLNDSDBID=NBK5313:C0271933:224120:ORPHA98869:59548005 Pathogenic 15_43021058_G->A 15 43021058 43021058 G A snp 1373.77 0/1 99 121 62 59 0.49 intronic rs200089015 CDAN1 AR NM_138477 exon9 c.4320+50G>A 0.00139776 0.0069 0.0005 0.0071 Uncertain 15_43021563_G->A 15 43021563 43021563 G A snp 1438.77 0/1 99 137 77 60 0.44 splicing rs12905385 CDAN1 AR NM_138477 exon11 c.4872+3G>A 0.236222 0.0387 0.251000 0.2090 0.0543 Pathogenic 15_43021628_C->T 15 43021628 43021628 C T snp 1470.77 0/1 99 110 52 58 0.53 intronic rs16957104 CDAN1 AR NM_138477 exon11 c.4872+68C>T 0.453474 0.2361 Uncertain 15_43021986_G->A 15 43021986 43021986 G A snp 316.77 0/1 99 38 20 18 0.47 intronic rs12594483 CDAN1 AR NM_138477 exon13 c.5305-7G>A 0.424121 0.2837 0.348893 0.2255 0.2965 Uncertain 15_43028683_C->T 15 43028683 43028683 C T snp 523.77 0/1 99 41 24 17 0.41 exonic rs12441516 CDAN1 AR nonsynonymous SNV NM_138477 exon2 c.G386A p.R129H 0.00459265 0.0089 0.0020 0 0.15 T 0.996 N -0.451 T 0.229 T 0.03 T CLINSIG=non-pathogenic;CLNDBN=Congenital_dyserythropoietic_anemia\x2c_type_I;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000020960.1;CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT;CLNDSDBID=NBK5313:C0271933:224120:ORPHA98869:59548005 Pathogenic 15_43086737_G->T 15 43086737 43086737 G T snp 246.77 0/1 99 27 16 11 0.41 intronic rs16957167 TTBK2 AD NM_173500 exon6 c.48849-104G>T 0.273363 0.3115 Uncertain 15_43090429_C->A 15 43090429 43090429 C A snp 959.77 0/1 99 90 43 47 0.52 intronic rs148155351 TTBK2 AD NM_173500 exon6 c.49007+3430C>A 0.000599042 0.003 0.0003 0 Uncertain 15_43109385_C->T 15 43109385 43109385 C T snp 586.77 0/1 99 53 29 24 0.45 intronic rs7182753 TTBK2 AD NM_173500 exon9 c.71303+90C>T 0.520367 0.37 Uncertain 15_43170690_-->AC 15 43170690 43170690 - AC indel 1358.73 0/1 59 47 5 42 0.89 intronic rs10650948 TTBK2 AD NM_173500 exon14 c.132754-56insAC 0.463444 Uncertain 15_43170793_A->G 15 43170793 43170793 A G snp 1397.77 0/1 99 149 81 68 0.46 exonic rs6493068 TTBK2 AD nonsynonymous SNV NM_173500 exon2 c.T23C p.L8P 0.514776 0.4157 0.469432 0.3784 0.4296 0.35 T 0.999 P -1.008 T 0.0 T 0.0 T CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000118718.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 15_43170823_C->T 15 43170823 43170823 C T snp 1333.77 0/1 99 143 81 62 0.43 UTR5 rs16957250 TTBK2 AD 0.086861 0.1567 0.084258 0.1141 0.1720 Uncertain 15_43170887_AACAAC->- 15 43170887 43170892 AACAAC - indel 2789.73 0/1 99 65 18 47 0.72 splicing TTBK2 AD NM_173500 exon14 c.132890+5_132890+10delAACAAC Pathogenic 15_43237806_T->- 15 43237806 43237806 T - indel 126.73 0/1 99 11 6 5 0.45 intronic rs11352938 UBR1 AR NM_174916 exon1 c.142+138delT 0.670327 0.6954 Uncertain 15_43244699_A->G 15 43244699 43244699 A G snp 588.77 0/1 99 44 22 22 0.5 intronic rs2277532 UBR1 AR NM_174916 exon3 c.7120+53A>G 0.510383 0.6161 Uncertain 15_43256121_T->C 15 43256121 43256121 T C snp 446.77 0/1 99 33 15 18 0.55 intronic rs2054389 UBR1 AR NM_174916 exon6 c.18606-11T>C 0.844848 0.8075 0.859582 0.8642 0.7940 Uncertain 15_43295088_G->A 15 43295088 43295088 G A snp 54.74 1/1 6 2 0 2 1.0 intronic rs4923955 UBR1 AR NM_174916 exon16 c.57376+186G>A 0.80611 0.7659 Uncertain 15_43299574_A->G 15 43299574 43299574 A G snp 481.77 0/1 99 26 11 15 0.58 intronic rs80350165 UBR1 AR NM_174916 exon18 c.61956+92A>G 0.0191693 0.0407 Uncertain 15_43322113_C->A 15 43322113 43322113 C A snp 933.77 0/1 99 76 38 38 0.5 intronic rs3736054 UBR1 AR NM_174916 exon27 c.84615-28C>A 0.838458 0.8046 0.844586 0.8478 0.7920 Uncertain 15_43324942_C->T 15 43324942 43324942 C T snp 140.77 0/1 99 22 16 6 0.27 intronic rs6493077 UBR1 AR NM_174916 exon28 c.87303+113C>T 0.80651 0.7669 Uncertain 15_43328663_C->T 15 43328663 43328663 C T snp 223.77 0/1 99 26 14 12 0.46 intronic rs3784265 UBR1 AR NM_174916 exon30 c.91199-62C>T 0.794329 0.7679 0.817219 Uncertain 15_43330175_A->T 15 43330175 43330175 A T snp 2033.77 1/1 99 56 0 56 1.0 intronic rs7166596 UBR1 AR NM_174916 exon31 c.92555+94A>T 0.982628 1 Uncertain 15_43352041_G->A 15 43352041 43352041 G A snp 676.77 0/1 99 52 28 24 0.46 intronic rs4924704 UBR1 AR NM_174916 exon40 c.114497+18G>A 0.844449 0.8046 0.859043 0.8626 0.7922 Uncertain 15_43398108_A->G 15 43398108 43398108 A G snp 1827.77 0/1 99 150 71 79 0.53 intronic rs68062403 UBR1 AR NM_174916 exon47 c.160613-31A>G 0.485823 0.6111 0.458551 0.5867 0.5823 Uncertain 15_43453056_C->G 15 43453056 43453056 C G snp 178.77 0/1 99 13 7 6 0.46 intronic rs11070392 TMEM62 AU NM_024956 exon10 c.26992+64C>G 0.299521 0.2669 Uncertain 15_43478113_G->C 15 43478113 43478113 G C snp 1703.77 0/1 99 164 88 76 0.46 intronic rs540587 CCNDBP1 AU NM_012142 exon2 c.381+36G>C 0.751597 0.752 0.781034 0.8498 0.7300 Uncertain 15_43481299_A->G 15 43481299 43481299 A G snp 168.77 0/1 99 13 5 8 0.62 intronic rs6493079 CCNDBP1 AU NM_012142 exon4 c.3700-97A>G Uncertain 15_43487102_T->- 15 43487102 43487102 T - indel 3295.73 0/1 99 221 115 106 0.48 UTR3 rs149235433 CCNDBP1 AU 0.00579073 0.0109 Uncertain 15_43512848_C->- 15 43512848 43512848 C - indel 363.73 0/1 99 49 25 24 0.49 intronic rs3832982 EPB42 AU NM_000119 exon13 c.23424-75delC 0.583067 0.6012 Uncertain 15_43527236_A->G 15 43527236 43527236 A G snp 562.77 1/1 42 17 0 17 1.0 intronic rs579178 TGM5 AR NM_004245 exon3 c.1739+109A>G 0.876597 0.999 Uncertain 15_43531411_G->C 15 43531411 43531411 G C snp 1885.77 0/1 99 135 57 78 0.58 exonic rs28756768 TGM5 AR nonsynonymous SNV NM_201631 exon8 c.C1055G p.A352G 0.242812 0.2431 0.213429 0.1480 0.2584 1 T 0.0 P -0.933 T 0.0 T 0.0 T Pathogenic 15_43545314_C->T 15 43545314 43545314 C T snp 84.28 1/1 9 3 0 3 1.0 intronic rs530188 TGM5 AR NM_004245 exon8 c.19746+180C>T 0.534944 0.4127 Uncertain 15_43545728_G->A 15 43545728 43545728 G A snp 483.77 0/1 99 41 23 18 0.44 exonic rs555001 TGM5 AR synonymous SNV NM_201631 exon5 c.C660T p.Y220Y 0.476837 0.4127 0.437010 0.3695 0.4207 Uncertain 15_43558823_A->C 15 43558823 43558823 A C snp 598.77 0/1 99 35 15 20 0.57 intronic rs473016 TGM5 AR NM_004245 exon12 c.33649-214A>C 0.476038 0.4087 Uncertain 15_43568999_C->T 15 43568999 43568999 C T snp 760.77 0/1 99 48 25 23 0.48 intronic rs530683 TGM7 AU NM_052955 exon2 c.407-60C>T 0.518371 0.5863 Uncertain 15_43571390_C->G 15 43571390 43571390 C G snp 589.77 0/1 99 78 48 30 0.38 exonic rs567357 TGM7 AU synonymous SNV NM_052955 exon11 c.G1764C p.A588A 0.533546 0.4058 0.504076 0.3877 0.4157 Uncertain 15_43579566_A->G 15 43579566 43579566 A G snp 1512.77 0/1 99 119 55 64 0.54 exonic rs513970 TGM7 AU synonymous SNV NM_052955 exon6 c.T777C p.S259S 0.534944 0.4077 0.504615 0.3917 0.4141 Uncertain 15_43585520_T->C 15 43585520 43585520 T C snp 222.77 0/1 99 19 10 9 0.47 intronic rs538238 TGM7 AU NM_052955 exon12 c.16994-126T>C 0.55651 0.4385 Uncertain 15_43621947_A->G 15 43621947 43621947 A G snp 2432.77 0/1 99 208 102 106 0.51 exonic rs3742969 LCMT2 AU synonymous SNV NM_014793 exon1 c.T741C p.R247R 0.395966 0.4683 0.287615 0.2152 0.4834 Uncertain 15_43627855_A->G 15 43627855 43627855 A G snp 1576.77 0/1 99 122 60 62 0.51 intronic rs1549525 ADAL AU NM_001159280 exon5 c.588-38A>G 0.400359 0.4683 0.288769 0.2190 0.4853 Uncertain 15_43632549_T->C 15 43632549 43632549 T C snp 1965.77 0/1 99 176 90 86 0.49 exonic rs2278857 ADAL AU synonymous SNV NM_001012969 exon6 c.T342C p.T114T 0.539137 0.4692 0.483385 0.3832 0.4864 Uncertain 15_43635136_G->A 15 43635136 43635136 G A snp 181.77 0/1 94 14 4 10 0.71 intronic rs8041132 ADAL AU NM_001159280 exon8 c.7886-55G>A 0.378395 0.4683 0.252306 Uncertain 15_43637985_T->C 15 43637985 43637985 T C snp 772.77 0/1 99 53 26 27 0.51 intronic rs6493083 ADAL AU NM_001159280 exon9 c.10746-66T>C 0.547125 0.4692 Uncertain 15_43654182_C->T 15 43654182 43654182 C T snp 35.77 0/1 64 6 4 2 0.33 intronic rs6493085 ZSCAN29 AU NM_152455 exon1 c.869+43C>T 0.377995 0.4683 0.245772 0.2057 0.4823 Uncertain 15_43656043_A->G 15 43656043 43656043 A G snp 229.77 0/1 99 13 5 8 0.62 intronic rs2899082 ZSCAN29 AU NM_152455 exon2 c.2842-69A>G 0.394968 0.4683 Uncertain 15_43659046_A->G 15 43659046 43659046 A G snp 1622.77 0/1 99 107 39 68 0.64 intronic rs2278860 ZSCAN29 AU NM_152455 exon3 c.5736+40A>G 0.394968 0.4683 0.275766 0.2123 0.4863 Uncertain 15_43661459_C->T 15 43661459 43661459 C T snp 31.77 0/1 60 9 7 2 0.22 intronic rs28461955 ZSCAN29 AU NM_152455 exon4 c.8055+134C>T 0.394768 0.4683 Uncertain 15_43661802_T->C 15 43661802 43661802 T C snp 1844.77 0/1 99 175 97 78 0.45 exonic rs3809482 ZSCAN29 AU nonsynonymous SNV NM_152455 exon1 c.A310G p.R104G 0.545927 0.4692 0.489846 0.3821 0.4870 1 T 1.000 P -0.947 T 0.0 T 0.002 T Pathogenic 15_43670226_C->A 15 43670226 43670226 C A snp 35.77 0/1 64 6 4 2 0.33 intronic rs3213990 TUBGCP4 AR NM_001286414 exon5 c.6549+125C>A 0.376398 0.4613 Uncertain 15_43690215_T->C 15 43690215 43690215 T C snp 208.77 0/1 99 18 5 13 0.72 ncRNA_intronic rs999026 RNU6-28P XU 0.384185 0.4613 0.265363 0.2246 0.4903 Uncertain 15_43694108_G->C 15 43694108 43694108 G C snp 1397.77 0/1 99 106 54 52 0.49 ncRNA_intronic rs2444036 RNU6-28P XU 0.401757 0.4633 Uncertain 15_43696168_-->T 15 43696168 43696168 - T indel 459.73 0/1 99 31 16 15 0.48 ncRNA_intronic rs3837679 RNU6-28P XU 0.40595 0.4722 Uncertain 15_43698679_A->G 15 43698679 43698679 A G snp 35.77 0/1 64 6 4 2 0.33 ncRNA_intronic rs1837959 RNU6-28P XU 0.401757 0.4563 Uncertain 15_43700427_G->A 15 43700427 43700427 G A snp 180.77 0/1 99 16 10 6 0.38 ncRNA_intronic rs45585139 RNU6-28P XU 0.238419 0.256 Uncertain 15_43707542_T->G 15 43707542 43707542 T G snp 119.78 0/1 27 6 1 5 0.83 ncRNA_intronic rs2254321 RNU6-28P XU 0.389577 0.3869 Uncertain 15_43720197_C->T 15 43720197 43720197 C T snp 867.77 0/1 99 66 35 31 0.47 ncRNA_intronic rs550239 RNU6-28P XU 0.380391 0.3859 0.287890 0.2075 0.4141 Uncertain 15_43720533_G->C 15 43720533 43720533 G C snp 253.77 0/1 99 14 6 8 0.57 ncRNA_intronic rs2249952 RNU6-28P XU 0.525759 0.3869 Uncertain 15_43724646_T->G 15 43724646 43724646 T G snp 2408.77 0/1 99 193 97 96 0.5 exonic rs2602141 TP53BP1 AU nonsynonymous SNV NM_005657 exon17 c.A3406C p.K1136Q 0.526358 0.3869 0.483613 0.3750 0.4170 1 T 0.0 P -1.000 T 0.0 T 0.0 T ID=CM067476;DIS=Lung cancer, susceptibility to, association with;TAG=DP;PUB=16741161 DP Pathogenic 15_43748304_A->G 15 43748304 43748304 A G snp 3120.77 0/1 99 250 131 119 0.48 exonic rs690367 TP53BP1 AU synonymous SNV NM_005657 exon12 c.T2487C p.D829D 0.526158 0.3879 0.488229 0.3739 0.4163 Uncertain 15_43762196_C->T 15 43762196 43762196 C T snp 186.77 0/1 99 24 14 10 0.42 exonic rs689647 TP53BP1 AU nonsynonymous SNV NM_005657 exon11 c.G1234A p.G412S 0.382388 0.3869 0.288121 0.2064 0.4150 0.59 T 0.000 P -1.046 T 0.0 T 0.0 T ID=CM107902;DIS=Basal cell carcinoma, reduced risk, association with;TAG=DP;PUB=20686496 DP Pathogenic 15_43767774_G->C 15 43767774 43767774 G C snp 601.77 0/1 99 77 46 31 0.4 exonic rs560191 TP53BP1 AU nonsynonymous SNV NM_005657 exon9 c.C1059G p.D353E 0.525759 0.3869 0.488075 0.3737 0.4173 1 T 0.001 P -1.012 T 0.0 T 0.002 T ID=CM067475;DIS=Lung cancer, susceptibility to, association with;TAG=DP;PUB=16741161 DP Pathogenic 15_43772374_C->T 15 43772374 43772374 C T snp 40.77 0/1 33 3 1 2 0.67 ncRNA_intronic rs524417 RNU6-28P XU 0.38119 0.3859 Uncertain 15_43784000_C->T 15 43784000 43784000 C T snp 3520.77 1/1 99 112 0 112 1.0 ncRNA_intronic rs555252 RNU6-28P XU 0.951478 1 0.960532 0.9843 0.9991 Uncertain 15_43784435_-->A 15 43784435 43784435 - A indel 198.73 0/1 99 29 16 13 0.45 ncRNA_intronic rs34075231 RNU6-28P XU 0.326278 0.379 0.2194 0.4132 Uncertain 15_43784475_C->T 15 43784475 43784475 C T snp 847.77 0/1 99 78 40 38 0.49 ncRNA_intronic rs2439831 RNU6-28P XU 0.369409 0.3859 0.270580 0.2003 0.4145 Uncertain 15_43813387_T->C 15 43813387 43813387 T C snp 342.77 0/1 48 14 3 11 0.79 ncRNA_intronic rs694985 RNU6-28P XU 0.364417 0.4177 Uncertain 15_43816917_G->A 15 43816917 43816917 G A snp 1718.77 0/1 99 154 78 76 0.49 exonic rs1060939 MAP1A AU synonymous SNV NM_002373 exon4 c.G3246A p.G1082G 0.528754 0.4177 0.464339 0.3671 0.4520 Uncertain 15_43817406_T->C 15 43817406 43817406 T C snp 2474.77 0/1 99 220 121 99 0.45 exonic rs480108 MAP1A AU synonymous SNV NM_002373 exon4 c.T3735C p.D1245D 0.528954 0.4177 0.474883 0.3672 0.4534 Uncertain 15_43817456_C->T 15 43817456 43817456 C T snp 3099.77 0/1 99 250 124 126 0.5 exonic MAP1A AU nonsynonymous SNV NM_002373 exon4 c.C3785T p.T1262I 0.08 T 1.000 N -0.945 T 0.16 T 0.05 T Pathogenic 15_43818052_G->A 15 43818052 43818052 G A snp 2009.77 0/1 99 180 94 86 0.48 exonic rs2245715 MAP1A AU nonsynonymous SNV NM_002373 exon4 c.G4381A p.D1461N 0.366813 0.4167 0.254532 0.1956 0.4504 0.19 T 0.0 P -1.025 T 0.144 T 0.157 T Pathogenic 15_43852496_A->C 15 43852496 43852496 A C snp 35.74 1/1 6 2 0 2 1.0 ncRNA_intronic rs138273725 RNU6-28P XU Uncertain 15_43873392_T->C 15 43873392 43873392 T C snp 1211.77 0/1 99 250 142 108 0.43 ncRNA_intronic rs2258959 RNU6-28P XU 4.458e-05 0.0001 Uncertain 15_43891235_G->C 15 43891235 43891235 G C snp 1788.77 0/1 99 152 78 74 0.49 ncRNA_intronic rs56397895 RNU6-28P XU 0.396366 0.4187 Uncertain 15_43891512_C->T 15 43891512 43891512 C T snp 1474.77 0/1 99 108 46 62 0.57 ncRNA_intronic rs2439 RNU6-28P XU 0.292732 0.2708 0.221795 0.1653 0.2952 Uncertain 15_43892847_G->C 15 43892847 43892847 G C snp 1100.77 0/1 99 84 39 45 0.54 exonic rs12438025 STRC AR synonymous SNV NM_153700 exon26 c.C4878G p.L1626L 0.294529 0.2718 0.222179 0.1644 0.2927 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000155389.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 15_43892893_A->G 15 43892893 43892893 A G snp 598.77 0/1 99 39 16 23 0.59 ncRNA_intronic rs12437957 RNU6-28P XU 0.294129 0.2718 0.212714 0.1595 0.2838 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000155390.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 15_43893072_G->A 15 43893072 43893072 G A snp 665.77 0/1 99 62 30 32 0.52 exonic rs3097773 STRC AR synonymous SNV NM_153700 exon25 c.C4842T p.F1614F 0.395767 0.4216 0.292981 0.2017 0.4415 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000154658.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 15_43893818_G->A 15 43893818 43893818 G A snp 1059.77 0/1 99 71 31 40 0.56 ncRNA_intronic rs2447196 RNU6-28P XU 0.291933 0.2708 Uncertain 15_43895642_G->A 15 43895642 43895642 G A snp 2156.77 0/1 99 234 135 99 0.42 intronic rs28495368 STRC AR NM_153700 exon7 c.3740+33G>A 0.28754 0.2718 0.181391 0.1631 0.2959 Uncertain 15_43895643_C->T 15 43895643 43895643 C T snp 2127.77 0/1 99 233 134 99 0.42 intronic rs2260160 STRC AR NM_153700 exon7 c.3740+34C>T 0.34345 0.3185 0.231261 0.1828 0.3393 Uncertain 15_43896446_C->A 15 43896446 43896446 C A snp 341.77 0/1 99 29 14 15 0.52 intronic rs2614819 STRC AR NM_153700 exon8 c.4481+96C>A 0.292332 0.2728 Uncertain 15_43896744_G->A 15 43896744 43896744 G A snp 1139.77 0/1 99 91 48 43 0.47 intronic rs183973715 STRC AR NM_153700 exon9 c.4780+95G>A 0.00459265 0.005 Uncertain 15_43896798_G->C 15 43896798 43896798 G C snp 1923.77 0/1 99 180 97 83 0.46 intronic rs2614822 STRC AR NM_153700 exon10 c.4978-49G>C 0.291134 0.2728 0.210311 0.1622 0.2955 Uncertain 15_43897499_T->C 15 43897499 43897499 T C snp 1220.77 0/1 99 122 65 57 0.47 exonic rs2920780 STRC AR nonsynonymous SNV NM_153700 exon19 c.A3893G p.H1298R 0.290935 0.2728 0.217731 0.2412 0.3701 0.61 T 0.264 P -0.928 T 0.027 T 0.006 T CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000151951.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 15_43903224_-->TGTGTGTGTGTC 15 43903224 43903224 - TGTGTGTGTGTC indel 14396.7 0/1 99 222 60 162 0.73 intronic rs369601009 STRC AR NM_153700 exon16 c.11313+42insTGTGTGTGTGTC Uncertain 15_43924682_G->A 15 43924682 43924682 G A snp 152.77 0/1 99 11 6 5 0.45 intronic rs2920781 CATSPER2 AU NM_001282310 exon2 c.1663+121G>A 0.288538 0.2698 Uncertain 15_43925134_T->A 15 43925134 43925134 T A snp 787.77 0/1 99 158 99 59 0.37 splicing rs7169097 CATSPER2 AU NM_172095 exon3 c.2234+2T>A 0.451877 0.3165 0.3304 0.3418 0.0 P Pathogenic 15_43925135_T->G 15 43925135 43925135 T G snp 790.77 0/1 99 157 98 59 0.38 splicing rs199882327 CATSPER2 AU NM_172095 exon3 c.2234+3T>G 0.451877 0.3165 0.3306 0.3424 Pathogenic 15_43925140_A->G 15 43925140 43925140 A G snp 795.77 0/1 99 152 93 59 0.39 intronic rs7167634 CATSPER2 AU NM_172095 exon3 c.2234+8A>G 0.451877 0.3165 0.3321 0.3433 Uncertain 15_43925147_T->G 15 43925147 43925147 T G snp 714.77 0/1 99 143 87 56 0.39 intronic rs7169112 CATSPER2 AU NM_172095 exon3 c.2234+15T>G 0.451877 0.3165 0.3348 0.3482 Uncertain 15_43927873_G->C 15 43927873 43927873 G C snp 436.77 0/1 99 32 13 19 0.59 intronic rs143270226 CATSPER2 AU NM_001282310 exon5 c.5026-51G>C 0.000599042 0.003 Uncertain 15_43932103_G->C 15 43932103 43932103 G C snp 230.77 0/1 99 16 6 10 0.63 intronic rs12443102 CATSPER2 AU NM_001282310 exon8 c.9098+107G>C 0.278754 0.2728 Uncertain 15_43939642_C->T 15 43939642 43939642 C T snp 477.77 0/1 99 49 27 22 0.45 exonic rs8042868 CATSPER2 AU nonsynonymous SNV NM_054020 exon3 c.G169A p.V57I 0.203474 0.2718 0.143264 0.1353 0.2911 0.15 T 0.000 P -0.985 T 0.002 T 0.001 T Pathogenic 15_43940307_T->C 15 43940307 43940307 T C snp 637.77 0/1 99 45 19 26 0.58 intronic CATSPER2 AU NM_001282310 exon12 c.17366+43T>C Uncertain 15_43941125_G->C 15 43941125 43941125 G C snp 462.77 1/1 36 17 0 17 1.0 upstream rs2470122 CATSPER2 AU 0.987819 1 Uncertain 15_43973324_T->C 15 43973324 43973324 T C snp 2249.77 1/1 99 148 0 148 1.0 intergenic rs144404907 CATSPER2 AU 6.658e-05 0.0001 1 T 1 D -1.042 T 0.0 T 0.0 T Uncertain 15_43988604_G->A 15 43988604 43988604 G A snp 955.77 0/1 99 71 34 37 0.52 intronic rs28578041 CKMT1A AU NM_001015001 exon7 c.2313+43G>A 0.211861 0.2629 0.145263 0.1398 0.2887 Uncertain 15_43989518_A->G 15 43989518 43989518 A G snp 3416.77 0/1 99 247 125 122 0.49 intronic rs2467426 CKMT1A AU NM_001015001 exon8 c.3963-693A>G 0.284944 0.3204 Uncertain 15_43989530_T->C 15 43989530 43989530 T C snp 3376.77 0/1 99 249 127 122 0.49 intronic rs2927085 CKMT1A AU NM_001015001 exon8 c.3963-681T>C 0.491813 0.4077 Uncertain 15_43991925_G->C 15 43991925 43991925 G C snp 300.77 0/1 99 66 45 21 0.32 downstream rs570637364 CKMT1A AU 0.00219649 0.0109 Uncertain 15_43992680_C->G 15 43992680 43992680 C G snp 714.77 0/1 99 71 36 35 0.49 intergenic rs28474845 CKMT1A AU Uncertain 15_43995789_C->T 15 43995789 43995789 C T snp 310.77 0/1 99 30 14 16 0.53 intergenic rs2470135 CKMT1A AU 0.478235 0.37 Uncertain 15_43996898_G->C 15 43996898 43996898 G C snp 443.77 0/1 99 29 12 17 0.59 intergenic rs2288768 CKMT1A AU 0.217252 0.2619 Uncertain 15_44001071_G->C 15 44001071 44001071 G C snp 1591.77 0/1 99 138 71 67 0.49 intergenic rs370956504 CKMT1A AU 0.23123 0.2579 Uncertain 15_44021501_G->C 15 44021501 44021501 G C snp 1181.77 0/1 99 188 117 71 0.38 intergenic rs151172008 CKMT1A AU 0.145966 0.1885 Uncertain 15_44028569_G->C 15 44028569 44028569 G C snp 956.77 1/1 72 50 10 40 0.8 ncRNA_exonic rs8028715 CATSPER2P1 AU 0.828674 1 Uncertain 15_44038899_C->T 15 44038899 44038899 C T snp 1617.77 0/1 99 172 94 78 0.45 exonic rs2411284 PDIA3 AU synonymous SNV NM_005313 exon1 c.C162T p.A54A 0.549121 0.6944 0.590086 0.6743 0.6680 Uncertain 15_44043793_C->G 15 44043793 44043793 C G snp 1540.77 0/1 99 109 41 68 0.62 intronic rs28718261 PDIA3 AU NM_005313 exon2 c.7284-2228C>G 0.213259 0.2619 0.1443 0.2583 Uncertain 15_44044859_A->C 15 44044859 44044859 A C snp 83.77 0/1 67 5 2 3 0.6 intronic rs28595038 PDIA3 AU NM_005313 exon2 c.7284-1162A>C 0.213658 0.2619 Uncertain 15_44053617_C->T 15 44053617 44053617 C T snp 866.77 0/1 99 55 27 28 0.51 splicing rs8040336 PDIA3 AU NM_005313 exon4 c.14884-4C>T 0.383786 0.4335 0.394303 0.4949 0.4025 Pathogenic 15_44053887_A->G 15 44053887 44053887 A G snp 981.77 0/1 99 60 26 34 0.57 intronic rs12101756 PDIA3 AU NM_005313 exon4 c.14992+158A>G 0.213658 0.2619 Uncertain 15_44060883_C->T 15 44060883 44060883 C T snp 767.77 0/1 99 42 16 26 0.62 intronic rs12441861 PDIA3 AU NM_005313 exon9 c.22058+88C>T 0.234225 0.2609 Uncertain 15_44061802_C->T 15 44061802 44061802 C T snp 2167.77 0/1 99 168 75 93 0.55 exonic rs1053492 PDIA3 AU synonymous SNV NM_005313 exon10 c.C1224T p.H408H 0.504593 0.63 0.542039 0.6562 0.6086 Uncertain 15_44062874_A->T 15 44062874 44062874 A T snp 661.77 1/1 51 21 0 21 1.0 intronic rs7181912 PDIA3 AU NM_005313 exon12 c.24041+96A>T 0.830671 0.999 Uncertain 15_44068160_C->G 15 44068160 44068160 C G snp 3023.77 1/1 99 101 0 101 1.0 intronic rs3844075 ELL3 AU NM_025165 exon8 c.2808+39C>G 0.845647 1 0.840902 0.8949 0.9983 Uncertain 15_44069069_G->C 15 44069069 44069069 G C snp 1550.77 0/1 99 177 100 77 0.44 exonic rs2277531 ELL3 AU nonsynonymous SNV NM_025165 exon1 c.C31G p.Q11E 0.211861 0.2609 0.155865 0.1466 0.2936 0.08 T 0.0 P -0.943 T 0.033 T 0.018 T Pathogenic 15_44084705_G->A 15 44084705 44084705 G A snp 6497.77 1/1 99 216 0 216 1.0 ncRNA_intronic rs4644832 SERF2-C15ORF63 AU 0.832069 1 Uncertain 15_44089222_C->G 15 44089222 44089222 C G snp 922.77 0/1 99 68 35 33 0.49 ncRNA_intronic rs2043878 SERF2-C15ORF63 AU 0.28734 0.4216 Uncertain 15_44090798_T->C 15 44090798 44090798 T C snp 397.77 0/1 99 23 7 16 0.7 ncRNA_intronic rs3759791 SERF2-C15ORF63 AU 0.210663 0.2659 Uncertain 15_44090854_T->C 15 44090854 44090854 T C snp 348.78 1/1 27 12 0 12 1.0 ncRNA_intronic rs654276 SERF2-C15ORF63 AU 0.846645 1 Uncertain 15_44091351_A->T 15 44091351 44091351 A T snp 2058.77 1/1 99 74 1 73 0.99 ncRNA_intronic rs656473 SERF2-C15ORF63 AU 0.976837 1 0.9932 0.9979 Uncertain 15_44091386_G->A 15 44091386 44091386 G A snp 356.77 0/1 99 37 23 14 0.38 ncRNA_intronic rs3784275 SERF2-C15ORF63 AU 0.147364 0.1915 Uncertain 15_44093853_A->G 15 44093853 44093853 A G snp 2810.77 0/1 99 201 88 113 0.56 ncRNA_intronic SERF2-C15ORF63 AU Uncertain 15_44093927_T->C 15 44093927 44093927 T C snp 1916.77 0/1 99 130 52 78 0.6 exonic rs12702 HYPK AU nonsynonymous SNV NM_016400 exon4 c.T313C p.S105P 0.209065 0.2599 0.151709 0.1340 0.2775 0.12 T 1.0 P -1.033 T 0.001 T 0.006 T Pathogenic 15_44102010_A->C 15 44102010 44102010 A C snp 2891.77 0/1 99 250 132 118 0.47 exonic rs2228368 MFAP1 AU synonymous SNV NM_005926 exon7 c.T990G p.A330A 0.202676 0.2599 0.144397 0.1325 0.2757 Uncertain 15_44102309_T->C 15 44102309 44102309 T C snp 36.78 0/1 27 3 1 2 0.67 intronic rs3825783 MFAP1 AU NM_005926 exon3 c.4821+197T>C 0.198682 0.2599 Uncertain 15_44106624_A->G 15 44106624 44106624 A G snp 1360.77 0/1 99 127 74 53 0.42 intronic rs3736180 MFAP1 AU NM_005926 exon6 c.9407-74A>G 0.201677 0.2599 Uncertain 15_44116986_C->T 15 44116986 44116986 C T snp 54.74 1/1 6 2 0 2 1.0 upstream rs3816792 MFAP1 AU 0.21246 0.2599 Uncertain 15_44119314_A->- 15 44119314 44119314 A - indel 2954.73 0/1 99 134 54 80 0.6 intronic rs3832984 WDR76 AU NM_024908 exon1 c.60+24delA 0.323682 0.2659 0.319214 0.2826 0.2819 Uncertain 15_44120559_T->G 15 44120559 44120559 T G snp 2601.77 1/1 99 91 0 91 1.0 exonic rs678084 WDR76 AU nonsynonymous SNV NM_001167941 exon2 c.T265G p.S89A 0.830671 1 0.791410 0.8332 0.9985 0.32 T 0.0 P -1.011 T 0.0 T 0.0 T Pathogenic 15_44127490_CCCGCCC->- 15 44127490 44127496 CCCGCCC - indel 385.73 0/1 70 19 1 18 0.95 intronic rs67611508 WDR76 AU NM_001167941 exon3 c.7054+142_7054+148delCCCGCCC 0.383387 0.5188 Uncertain 15_44151063_G->A 15 44151063 44151063 G A snp 1391.77 0/1 99 115 61 54 0.47 intronic rs13329084 WDR76 AU NM_001167941 exon11 c.30727+42G>A 0.109625 0.1855 0.071044 0.1028 0.1963 Uncertain 15_44176103_A->G 15 44176103 44176103 A G snp 973.77 0/1 99 95 55 40 0.42 intronic rs8023508 FRMD5 AU NM_001286491 exon2 c.9925+96A>G 0.286542 0.2629 Uncertain 15_44198049_A->G 15 44198049 44198049 A G snp 606.77 0/1 99 61 40 21 0.34 exonic rs2306674 FRMD5 AU synonymous SNV NM_032892 exon6 c.T528C p.A176A 0.219848 0.2857 0.147398 0.1071 0.3004 Uncertain 15_44202014_C->G 15 44202014 44202014 C G snp 1291.77 0/1 99 113 54 59 0.52 intronic rs12440402 FRMD5 AU NM_001286491 exon9 c.35997-65C>G 0.166134 0.1389 Uncertain 15_44211868_G->A 15 44211868 44211868 G A snp 1493.77 0/1 99 125 65 60 0.48 intronic rs2016840 FRMD5 AU NM_001286491 exon13 c.45882-96G>A 0.474042 0.3363 Uncertain 15_44211913_G->A 15 44211913 44211913 G A snp 1629.77 0/1 99 146 76 70 0.48 intronic rs2016837 FRMD5 AU NM_001286491 exon13 c.45882-51G>A 0.332668 0.2143 0.268131 Uncertain 15_44216559_-->T 15 44216559 44216559 - T indel 194.73 0/1 99 52 16 36 0.69 intronic rs397807961 FRMD5 AU NM_001286491 exon14 c.50425+52insT 0.442492 0.3522 0.3709 0.3780 Uncertain 15_44216577_C->T 15 44216577 44216577 C T snp 270.77 0/1 99 27 10 17 0.63 intronic rs3742981 FRMD5 AU NM_001286491 exon14 c.50425+70C>T 0.16873 0.2123 Uncertain 15_44599411_T->- 15 44599411 44599411 T - indel 217.73 0/1 99 94 36 58 0.62 intronic rs199591388 CASC4 AU NM_138423 exon2 c.33935-15751delT Uncertain 15_44778936_T->A 15 44778936 44778936 T A snp 162.77 0/1 99 19 9 10 0.53 intronic rs2453275 CTDSPL2 AU NM_016396 exon4 c.27686+38T>A 0.726238 0.7063 0.664968 0.6240 0.6866 Uncertain 15_44903285_C->A 15 44903285 44903285 C A snp 210.84 1/1 18 6 0 6 1.0 intronic rs12909507 SPG11 AR NM_001160227 exon21 c.47865+102C>A 0.97504 0.9792 Uncertain 15_44943757_A->G 15 44943757 44943757 A G snp 2839.77 0/1 99 219 101 118 0.54 exonic rs3759871 SPG11 AR nonsynonymous SNV NM_025137 exon6 c.T1388C p.F463S 0.47484 0.4653 0.479295 0.4659 0.4674 0.33 T 0.0 P -0.903 T 0.066 T 0.022 T CLINSIG=non-pathogenic|probable-non-pathogenic;CLNDBN=Spastic_paraplegia_11\x2c_autosomal_recessive|not_specified;CLNREVSTAT=no_assertion_criteria_provided|no_assertion_criteria_provided;CLNACC=RCV000034172.2|RCV000118403.2;CLNDSDB=GeneReviews:MedGen:OMIM|MedGen;CLNDSDBID=NBK1210:C1858479:604360|CN169374 Pathogenic 15_44951174_A->G 15 44951174 44951174 A G snp 428.77 0/1 99 40 24 16 0.4 intronic rs7165146 SPG11 AR NM_001160227 exon36 c.95958-102A>G 0.697883 0.7113 Uncertain 15_44966389_T->C 15 44966389 44966389 T C snp 2714.77 1/1 99 103 0 103 1.0 exonic rs8026845 PATL2 AU nonsynonymous SNV NM_001145112 exon4 c.A262G p.M88V 0.990415 1 0.989455 0.9960 1 0.53 T 0.0 P -1.019 T 0.0 T 0.0 T Pathogenic 15_44968581_G->A 15 44968581 44968581 G A snp 1270.77 0/1 99 128 76 52 0.41 intronic rs150551654 PATL2 AU NM_001145112 exon15 c.10522-91G>A 0.00379393 0.0109 Uncertain 15_45028919_-->T 15 45028919 45028919 - T indel 586.73 0/1 99 44 11 33 0.75 intronic rs11388295 TRIM69 AU NM_182985 exon1 c.6+11insT 0.482628 0.4881 0.4992 0.4853 Uncertain 15_45047134_G->A 15 45047134 45047134 G A snp 2174.77 0/1 99 249 151 98 0.39 exonic rs2470911 TRIM69 AU nonsynonymous SNV NM_182985 exon2 c.G43A p.D15N 0.562899 0.5813 0.658097 0.6640 0.5860 0.86 T 0.0 P -0.962 T 0.0 T 0.0 T Pathogenic 15_45047573_C->T 15 45047573 45047573 C T snp 180.77 0/1 99 17 10 7 0.41 exonic rs3100139 TRIM69 AU nonsynonymous SNV NM_182985 exon2 c.C482T p.T161M 0.717851 0.7718 0.777171 0.7998 0.7737 0.22 T 1.0 P -1.033 T 0.218 T 0.032 T Pathogenic 15_45048651_C->T 15 45048651 45048651 C T snp 489.77 0/1 99 40 20 20 0.5 exonic rs3759880 TRIM69 AU nonsynonymous SNV NM_001301146 exon2 c.C92T p.A31V 0.136981 0.0685 0.123738 0.1217 0.0571 0.38 T 0.000 P -1.011 T 0.001 T 0.003 T Pathogenic 15_45048757_T->A 15 45048757 45048757 T A snp 791.77 1/1 57 27 0 27 1.0 intronic rs3759881 TRIM69 AU NM_182985 exon3 c.19759+96T>A 0.904553 0.8403 Uncertain 15_45048783_G->A 15 45048783 45048783 G A snp 264.77 0/1 99 20 11 9 0.45 intronic rs3759882 TRIM69 AU NM_182985 exon3 c.19759+122G>A 0.0750799 0.0625 Uncertain 15_45048841_A->G 15 45048841 45048841 A G snp 75.77 0/1 96 7 4 3 0.43 intronic rs3759883 TRIM69 AU NM_182985 exon3 c.19759+180A>G 0.0750799 0.0625 Uncertain 15_45059390_C->T 15 45059390 45059390 C T snp 1735.77 1/1 99 69 0 69 1.0 intronic rs6493127 TRIM69 AU NM_182985 exon7 c.30526-38C>T 0.926917 0.8532 0.964054 0.9348 0.8473 Uncertain 15_45060014_A->T 15 45060014 45060014 A T snp 2189.77 1/1 99 73 0 73 1.0 UTR3 rs3100143 TRIM69 AU 0.812899 0.8065 0.850434 0.8647 0.8182 Uncertain 15_45142419_A->G 15 45142419 45142419 A G snp 547.77 0/1 99 30 11 19 0.63 intergenic rs8026050 TRIM69 AU 0.159545 0.3938 Uncertain 15_45142662_A->G 15 45142662 45142662 A G snp 786.77 0/1 99 53 25 28 0.53 intergenic rs8026423 TRIM69 AU 0.15655 0.3849 Uncertain 15_45142707_G->C 15 45142707 45142707 G C snp 311.77 0/1 99 16 6 10 0.63 intergenic rs8027024 TRIM69 AU 0.154153 0.3849 Uncertain 15_45142732_C->T 15 45142732 45142732 C T snp 36.77 0/1 65 6 3 3 0.5 intergenic rs148257441 TRIM69 AU 0.15635 0.3849 Uncertain 15_45250755_C->T 15 45250755 45250755 C T snp 267.8 1/1 21 8 0 8 1.0 intronic rs373082 C15orf43 AU NM_152448 exon3 c.1794+45C>T 0.999601 1 0.9993 0.9995 Uncertain 15_45250756_A->G 15 45250756 45250756 A G snp 267.8 1/1 21 8 0 8 1.0 intronic rs446505 C15orf43 AU NM_152448 exon3 c.1794+46A>G 0.999601 1 0.9993 0.9994 Uncertain 15_45353230_C->T 15 45353230 45353230 C T snp 3991.77 1/1 99 143 1 142 0.99 intronic rs2854446 SORD AU NM_003104 exon4 c.37783-34C>T 0.860823 0.9226 0.874461 0.8694 0.9003 Uncertain 15_45357410_T->G 15 45357410 45357410 T G snp 1848.77 1/1 99 75 0 75 1.0 intronic rs2854437 SORD AU NM_003104 exon5 c.41987-58T>G 0.675719 0.7946 Uncertain 15_45361011_C->T 15 45361011 45361011 C T snp 233.8 1/1 21 11 0 11 1.0 intronic rs28662287 SORD AU NM_003104 exon7 c.45593-63C>T 0.627596 0.751 Uncertain 15_45364647_C->T 15 45364647 45364647 C T snp 35.74 1/1 6 2 0 2 1.0 intronic rs28495265 SORD AU NM_003104 exon8 c.49155+11C>T 0.1340 0.3768 Uncertain 15_45387550_A->G 15 45387550 45387550 A G snp 3371.77 1/1 99 101 0 101 1.0 intronic rs199138 DUOX2 AR NM_014080 exon4 c.1287-84A>G 0.708267 0.9514 Uncertain 15_45388382_C->T 15 45388382 45388382 C T snp 820.77 1/1 60 25 0 25 1.0 intronic rs2554451 DUOX2 AR NM_014080 exon5 c.1911+124C>T 0.708267 0.9514 Uncertain 15_45391566_A->T 15 45391566 45391566 A T snp 1358.77 1/1 99 50 0 50 1.0 intronic rs269869 DUOX2 AR NM_014080 exon9 c.5233-14A>T 0.991414 1 0.991610 0.9977 1 Uncertain 15_45392075_G->A 15 45392075 45392075 G A snp 4104.77 1/1 99 138 0 138 1.0 exonic rs269868 DUOX2 AR nonsynonymous SNV NM_014080 exon25 c.C3200T p.S1067L 0.720248 0.9514 0.702740 0.8644 0.9425 0.03 T 1.000 P -0.941 T 0.025 T 0.02 T ID=CM085371;DIS=Hypothyroidism, transient;TAG=DM?;PUB=18765513 DM? Pathogenic 15_45398965_G->T 15 45398965 45398965 G T snp 1708.77 1/1 99 49 1 48 0.98 intronic rs269862 DUOX2 AR NM_014080 exon20 c.12682-64G>T 0.842252 0.9514 Uncertain 15_45399467_A->G 15 45399467 45399467 A G snp 8216.77 1/1 99 250 1 249 1.0 intronic rs190599 DUOX2 AR NM_014080 exon21 c.13195-75A>G 0.838458 0.9524 Uncertain 15_45400164_T->C 15 45400164 45400164 T C snp 888.77 1/1 66 23 0 23 1.0 intronic rs269861 DUOX2 AR NM_014080 exon22 c.13897-80T>C 0.802516 0.9931 Uncertain 15_45400358_C->G 15 45400358 45400358 C G snp 6997.77 1/1 99 250 0 250 1.0 exonic rs269860 DUOX2 AR synonymous SNV NM_014080 exon13 c.G1461C p.G487G 0.861422 0.9901 0.856681 0.9410 0.9791 Uncertain 15_45402940_A->G 15 45402940 45402940 A G snp 50.74 1/1 6 2 0 2 1.0 intronic rs269859 DUOX2 AR NM_014080 exon27 c.16561+32A>G 0.711462 0.9435 0.698045 0.8575 0.9280 Uncertain 15_45403557_C->- 15 45403557 45403557 C - indel 199.8 1/1 18 6 0 6 1.0 intronic rs372134146 DUOX2 AR NM_014080 exon29 c.17234-24delC 0.0297524 0.0813 0 . Uncertain 15_45404066_G->A 15 45404066 45404066 G A snp 6987.77 1/1 99 250 0 250 1.0 exonic rs2001616 DUOX2 AR nonsynonymous SNV NM_014080 exon5 c.C413T p.P138L 0.759984 0.9196 0.743150 0.8624 0.9036 0.06 T 1.000 P -1.064 T 0.031 T 0.049 T Pathogenic 15_45404979_T->G 15 45404979 45404979 T G snp 4669.77 1/1 99 171 0 171 1.0 intronic rs182090 DUOX2 AR NM_014080 exon31 c.18569+63T>G 0.990016 1 Uncertain 15_45405463_G->T 15 45405463 45405463 G T snp 2228.77 1/1 99 71 0 71 1.0 intronic rs269856 DUOX2 AR NM_014080 exon33 c.19188-72G>T 0.859425 0.9742 Uncertain 15_45408414_C->G 15 45408414 45408414 C G snp 4169.77 1/1 99 150 0 150 1.0 exonic rs2576090 DUOXA2 AR nonsynonymous SNV NM_207581 exon3 c.C298G p.R100G 0.858427 1 0.864376 0.9621 1 1 T 0.012 P -0.939 T 0.0 T 0.0 T Pathogenic 15_45408691_C->G 15 45408691 45408691 C G snp 3482.77 1/1 99 116 0 116 1.0 intronic rs2576091 DUOXA2 AR NM_207581 exon4 c.1910-22C>G 0.76238 0.9544 0.765587 0.8734 0.9359 Uncertain 15_45408699_C->T 15 45408699 45408699 C T snp 3771.77 1/1 99 127 0 127 1.0 intronic rs2252371 DUOXA2 AR NM_207581 exon4 c.1910-14C>T 0.682907 0.8869 0.702521 0.8419 0.8652 Uncertain 15_45408710_A->G 15 45408710 45408710 A G snp 4214.77 1/1 99 150 0 150 1.0 splicing rs2554459 DUOXA2 AR NM_207581 exon4 c.1910-3A>G 0.920327 1 0.935140 0.9819 1 Pathogenic 15_45408933_T->C 15 45408933 45408933 T C snp 1704.77 1/1 99 48 0 48 1.0 splicing rs2576092 DUOXA2 AR NM_207581 exon4 c.2124+6T>C 0.764177 0.9554 0.753444 0.8765 0.9384 Pathogenic 15_45409196_A->G 15 45409196 45409196 A G snp 387.77 1/1 30 11 0 11 1.0 intronic rs1370114 DUOXA2 AR NM_207581 exon5 c.2485-92A>G 0.991414 1 Uncertain 15_45409271_C->T 15 45409271 45409271 C T snp 1368.77 1/1 99 52 0 52 1.0 intronic rs955152 DUOXA2 AR NM_207581 exon5 c.2485-17C>T 0.684105 0.8819 0.705654 0.8517 0.8655 Uncertain 15_45414247_G->A 15 45414247 45414247 G A snp 464.77 1/1 36 12 0 12 1.0 intronic rs1898298 DUOXA1 AU NM_001276267 exon4 c.3079-135G>A 0.785144 0.9544 Uncertain 15_45424286_C->G 15 45424286 45424286 C G snp 599.77 0/1 99 35 13 22 0.63 intronic rs1706810 DUOX1 AU NM_175940 exon2 c.58+64C>G 0.491813 0.6002 0.594464 Uncertain 15_45427943_G->T 15 45427943 45427943 G T snp 45.74 1/1 6 36 29 7 0.19 intronic rs201018426 DUOX1 AU NM_175940 exon7 c.3815-36G>T 0.1816 0.2812 Uncertain 15_45442953_C->T 15 45442953 45442953 C T snp 1303.77 0/1 99 118 59 59 0.5 intronic DUOX1 AU NM_175940 exon22 c.18735+54C>T Uncertain 15_45456764_A->G 15 45456764 45456764 A G snp 133.03 1/1 12 4 0 4 1.0 intronic rs1648313 DUOX1 AU NM_175940 exon34 c.32812-212A>G 0.71226 0.9246 Uncertain 15_45457127_C->T 15 45457127 45457127 C T snp 3332.77 1/1 99 117 0 117 1.0 UTR3 rs7169193 DUOX1 AU 0.712859 0.9246 0.542026 0.5684 0.9435 Uncertain 15_45467541_G->A 15 45467541 45467541 G A snp 576.77 0/1 99 59 35 24 0.41 exonic rs78344302 SHF AU synonymous SNV NM_001301168 exon3 c.C723T p.T241T 0.0061901 0.0278 0.000462 0.0048 0.0547 Uncertain 15_45567529_T->C 15 45567529 45567529 T C snp 3994.77 1/1 99 137 0 137 1.0 ncRNA_intronic rs12440356 LOC101928414 AU 0.514377 0.8819 Uncertain 15_45654327_A->G 15 45654327 45654327 A G snp 3749.77 1/1 99 126 0 126 1.0 exonic rs1145086 GATM AR synonymous SNV NM_001482 exon9 c.T1252C p.L418L 0.717652 0.8988 0.533944 0.5329 0.9202 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000117124.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 15_45661678_T->A 15 45661678 45661678 T A snp 5501.77 1/1 99 192 1 191 0.99 exonic rs1288775 GATM AR nonsynonymous SNV NM_001482 exon3 c.A330T p.Q110H 0.61861 0.8185 0.434960 0.4185 0.8289 0.55 T 0.000 P -1.011 T 0.0 T 0.0 T CLINSIG=probable-non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=no_assertion_criteria_provided|criteria_provided\x2c_single_submitter;CLNACC=RCV000117125.2|RCV000125215.1;CLNDSDB=MedGen|MedGen;CLNDSDBID=CN169374|CN221809 Pathogenic 15_45669055_C->A 15 45669055 45669055 C A snp 1011.77 1/1 75 34 0 34 1.0 intronic rs12437840 GATM AR NM_001482 exon8 c.14711+38C>A 0.443091 0.8065 0.270089 0.3827 0.8274 Uncertain 15_45669094_G->A 15 45669094 45669094 G A snp 389.77 1/1 30 13 0 13 1.0 intronic rs12437887 GATM AR NM_001482 exon8 c.14711+77G>A 0.44349 0.8065 Uncertain 15_45670851_G->A 15 45670851 45670851 G A snp 229.84 1/1 18 8 0 8 1.0 UTR5 rs7164139 GATM AR 0.44389 0.8046 0.5533 0.95 Uncertain 15_45694516_G->T 15 45694516 45694516 G T snp 1194.77 1/1 87 38 0 38 1.0 upstream rs1346266 SPATA5L1 AU 0.617412 0.8145 Uncertain 15_45694579_C->T 15 45694579 45694579 C T snp 2893.77 1/1 99 103 0 103 1.0 UTR5 rs1820518 SPATA5L1 AU 0.450479 0.8065 0.268095 0.3582 0.8152 Uncertain 15_45694610_C->T 15 45694610 45694610 C T snp 3557.77 1/1 99 128 0 128 1.0 UTR5 rs1365610 SPATA5L1 AU 0.452476 0.8065 0.270570 0.3650 0.8205 Uncertain 15_45695382_G->A 15 45695382 45695382 G A snp 844.77 1/1 63 25 0 25 1.0 exonic rs7182723 SPATA5L1 AU nonsynonymous SNV NM_024063 exon1 c.G755A p.R252Q 0.449681 0.8065 0.195483 0.4908 0.8551 0 D 0.082 P -0.864 T 0.83 T 0.288 P Pathogenic 15_45695462_G->T 15 45695462 45695462 G T snp 732.77 0/1 99 82 52 30 0.37 exonic SPATA5L1 AU stopgain NM_024063 exon1 c.G835T p.E279X 0 D 1 A Pathogenic 15_45695695_G->A 15 45695695 45695695 G A snp 6454.77 1/1 99 250 3 247 0.99 exonic rs1153849 SPATA5L1 AU synonymous SNV NM_024063 exon1 c.G1068A p.R356R 0.617812 0.8145 0.426272 0.4195 0.8276 Uncertain 15_45695831_T->- 15 45695831 45695831 T - indel 5556.73 1/1 99 138 0 138 1.0 intronic rs3833012 SPATA5L1 AU NM_024063 exon1 c.1089+115delT 0.450879 0.8065 Uncertain 15_45706739_A->G 15 45706739 45706739 A G snp 1407.77 1/1 99 47 0 47 1.0 intronic rs12440038 SPATA5L1 AU NM_024063 exon4 c.12141-29A>G 0.449481 0.8065 0.268591 0.3893 0.8294 Uncertain 15_45725138_C->T 15 45725138 45725138 C T snp 53.77 0/1 82 29 23 6 0.21 intronic rs759930060 C15orf48 AU NM_032413 exon4 c.2151-7C>T 3.368e-05 0 Uncertain 15_45779008_G->A 15 45779008 45779008 G A snp 119.77 0/1 99 7 3 4 0.57 intronic rs16944146 SLC30A4 AU NM_013309 exon2 c.1583+65G>A 0.113618 0.2847 Uncertain 15_45779810_G->A 15 45779810 45779810 G A snp 1253.77 0/1 99 86 31 55 0.64 exonic rs2453531 SLC30A4 AU synonymous SNV NM_013309 exon6 c.C915T p.D305D 0.760783 0.7034 0.757081 0.7149 0.6931 Uncertain 15_45951409_A->T 15 45951409 45951409 A T snp 40.77 0/1 69 7 4 3 0.43 intronic rs55658411 SQRDL AU NM_021199 exon2 c.234+54A>T 0.303914 0.505 Uncertain 15_45968435_T->C 15 45968435 45968435 T C snp 1241.77 0/1 99 87 35 52 0.6 exonic rs1044032 SQRDL AU nonsynonymous SNV NM_021199 exon6 c.T791C p.I264T 0.264177 0.4276 0.172902 0.2430 0.4465 0.15 T 1.000 P -0.954 T 0.006 T 0.023 T Pathogenic 15_45968535_A->C 15 45968535 45968535 A C snp 725.77 0/1 99 58 28 30 0.52 intronic rs12914266 SQRDL AU NM_021199 exon6 c.17387+27A>C 0.76857 0.749 0.787529 0.7972 0.7700 Uncertain 15_45974628_G->A 15 45974628 45974628 G A snp 1228.77 0/1 99 111 56 55 0.5 intronic rs2289578 SQRDL AU NM_021199 exon7 c.23554-47G>A 0.229233 0.3968 0.122710 0.1946 0.4172 Uncertain 15_47873469_A->G 15 47873469 47873469 A G snp 495.77 0/1 99 53 33 20 0.38 intronic rs75751186 SEMA6D AU 0.0393371 0.0377 Uncertain 15_47873549_C->T 15 47873549 47873549 C T snp 1111.77 0/1 99 106 56 50 0.47 intronic rs4775699 SEMA6D AU 0.370807 0.2808 0.432523 0.4687 0.2725 Uncertain 15_47873605_T->A 15 47873605 47873605 T A snp 1656.77 0/1 99 142 67 75 0.53 intronic rs4774498 SEMA6D AU 0.638978 0.499 Uncertain 15_47873773_A->G 15 47873773 47873773 A G snp 146.77 0/1 99 14 8 6 0.43 intronic rs8039513 SEMA6D AU 0.335663 0.2688 Uncertain 15_48053229_C->A 15 48053229 48053229 C A snp 2500.77 0/1 99 250 141 109 0.44 exonic rs501916 SEMA6D AU synonymous SNV NM_153618 exon4 c.C276A p.P92P 0.479832 0.6339 0.393149 0.3997 0.6476 Uncertain 15_48053334_G->T 15 48053334 48053334 G T snp 3013.77 0/1 99 249 132 117 0.47 intronic rs599111 SEMA6D AU NM_153616 exon5 c.1359-20G>T 0.479832 0.6339 0.393149 0.3997 0.6475 Uncertain 15_48055119_T->C 15 48055119 48055119 T C snp 226.77 0/1 99 14 6 8 0.57 intronic rs3743276 SEMA6D AU NM_153616 exon9 c.3217-93T>C 0.485623 0.6339 Uncertain 15_48056735_A->C 15 48056735 48056735 A C snp 164.77 0/1 99 22 15 7 0.32 intronic rs565627 SEMA6D AU NM_153616 exon12 c.4839-99A>C 0.484625 0.6458 Uncertain 15_48058071_G->A 15 48058071 48058071 G A snp 1588.77 0/1 99 138 75 63 0.46 exonic rs532598 SEMA6D AU nonsynonymous SNV NM_153618 exon14 c.G1433A p.S478N 0.465655 0.6032 0.419938 0.3969 0.5903 0.4 T 1.0 P -0.980 T 0.0 T 0.001 T Pathogenic 15_48063076_T->C 15 48063076 48063076 T C snp 1404.77 0/1 99 129 65 64 0.5 exonic rs568215 SEMA6D AU synonymous SNV NM_153618 exon19 c.T2316C p.P772P 0.795727 0.8442 0.712966 0.6948 0.8363 Uncertain 15_48426484_A->G 15 48426484 48426484 A G snp 5357.77 1/1 99 201 0 201 1.0 exonic rs1426654 SLC24A5 AR nonsynonymous SNV NM_205850 exon3 c.A331G p.T111A 0.5623 0.9881 0.264049 0.2283 0.9917 1 T 0.002 P -0.930 T 0.0 T 0.0 T CLINSIG=other;CLNDBN=Skin/hair/eye_pigmentation\x2c_variation_in\x2c_4;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000001552.3;CLNDSDB=MedGen:OMIM:Orphanet;CLNDSDBID=C2676042:113750:ORPHA370097 ID=CM054862;DIS=Increased skin pigmentation, association with;TAG=DFP;PUB=16357253 DFP Pathogenic 15_48433494_A->G 15 48433494 48433494 A G snp 2061.77 1/1 99 61 0 61 1.0 UTR3 rs2470102 MYEF2 AU 0.497005 0.753 Uncertain 15_48443540_A->T 15 48443540 48443540 A T snp 234.77 0/1 99 12 4 8 0.67 intronic rs75263091 MYEF2 AU NM_001301210 exon4 c.8565-129A>T 0.0173722 0.0843 Uncertain 15_48443699_T->C 15 48443699 48443699 T C snp 6568.77 1/1 99 249 0 249 1.0 exonic rs2470103 MYEF2 AU nonsynonymous SNV NM_016132 exon13 c.A1277G p.Q426R 1 1 0.999461 0.9997 1 1 T 0.000 P -0.936 T 0.0 T 0.0 T Pathogenic 15_48450517_T->C 15 48450517 48450517 T C snp 765.77 1/1 57 24 0 24 1.0 intronic rs3736482 MYEF2 AU NM_001301210 exon9 c.15317+96T>C 0.891174 0.9405 Uncertain 15_48460786_T->C 15 48460786 48460786 T C snp 2338.77 1/1 99 74 0 74 1.0 intronic rs11070626 MYEF2 AU NM_001301210 exon15 c.25723-41T>C 0.902756 0.9415 0.926636 0.9604 0.9236 Uncertain 15_48460927_C->T 15 48460927 48460927 C T snp 6703.77 1/1 99 246 0 246 1.0 exonic rs8023906 MYEF2 AU nonsynonymous SNV NM_016132 exon2 c.G271A p.A91T 0.993011 1 0.991608 0.9980 1 1 T 0.000 P -0.983 T 0.0 T 0.0 T Pathogenic 15_48461146_T->C 15 48461146 48461146 T C snp 46.77 0/1 33 3 1 2 0.67 intronic rs3817315 MYEF2 AU NM_001301210 exon15 c.25932+110T>C 0.65655 0.5109 Uncertain 15_48518914_T->A 15 48518914 48518914 T A snp 256.77 0/1 99 25 16 9 0.36 intronic rs77604701 SLC12A1 AR NM_000338 exon5 c.18852+146T>A 0.0361422 0.125 Uncertain 15_48520699_T->C 15 48520699 48520699 T C snp 43.77 0/1 70 4 2 2 0.5 intronic rs1484547 SLC12A1 AR NM_000338 exon6 c.21469-686T>C 0.877196 0.7282 Uncertain 15_48520784_-->TA 15 48520784 48520784 - TA indel 266.73 0/1 99 16 8 8 0.5 intronic rs139300588 SLC12A1 AR NM_000338 exon6 c.21469-601insTA 0.0391 0.1667 Uncertain 15_48529069_C->T 15 48529069 48529069 C T snp 1407.77 1/1 99 51 0 51 1.0 intronic rs73404514 SLC12A1 AR NM_000338 exon9 c.27285+1868C>T 0.130391 0.3681 Uncertain 15_48538979_-->AAC 15 48538979 48538979 - AAC indel 929.73 1/1 57 19 0 19 1.0 intronic rs10679509 SLC12A1 AR NM_000338 exon12 c.39189-126insAAC 0.936302 0.9633 Uncertain 15_48539043_G->A 15 48539043 48539043 G A snp 2989.77 1/1 99 106 0 106 1.0 intronic rs8028035 SLC12A1 AR NM_000338 exon12 c.39189-62G>A 0.9373 0.9692 Uncertain 15_48539587_T->C 15 48539587 48539587 T C snp 3618.77 1/1 99 143 0 143 1.0 exonic rs6493311 SLC12A1 AR synonymous SNV NM_000338 exon13 c.T1614C p.Y538Y 0.495607 0.5883 0.365743 0.2967 0.5587 Uncertain 15_48547976_T->C 15 48547976 48547976 T C snp 3711.77 1/1 99 132 0 132 1.0 intronic rs2291340 SLC12A1 AR NM_000338 exon16 c.48091-31T>C 0.430911 0.4018 0.351840 0.3551 0.5086 Uncertain 15_48561834_A->G 15 48561834 48561834 A G snp 3678.77 1/1 99 136 0 136 1.0 intronic rs1484551 SLC12A1 AR NM_000338 exon19 c.61938-20A>G 0.979233 0.9683 0.993532 0.9892 0.9699 Uncertain 15_48580573_A->T 15 48580573 48580573 A T snp 526.77 1/1 39 17 0 17 1.0 intronic rs12442530 SLC12A1 AR NM_000338 exon23 c.80685-28A>T 0.329473 0.4028 0.234476 0.2470 0.4264 Uncertain 15_48580713_T->C 15 48580713 48580713 T C snp 1874.77 1/1 99 70 0 70 1.0 exonic rs1552311 SLC12A1 AR nonsynonymous SNV NM_000338 exon23 c.T2873C p.V958A 0.997804 1 0.997437 0.9992 1 1 T 0.000 P -0.929 T 0.0 T 0.0 T Pathogenic 15_48583837_C->A 15 48583837 48583837 C A snp 135.03 1/1 12 4 0 4 1.0 intronic rs2291341 SLC12A1 AR NM_000338 exon24 c.84058-137C>A 0.294728 0.4008 Uncertain 15_48584083_A->C 15 48584083 48584083 A C snp 2633.77 1/1 99 97 0 97 1.0 intronic rs2291342 SLC12A1 AR NM_000338 exon24 c.84145+22A>C 0.433307 0.5347 0.303759 0.3213 0.5797 Uncertain 15_48591267_C->T 15 48591267 48591267 C T snp 2595.77 1/1 99 95 0 95 1.0 intronic rs35405890 SLC12A1 AR NM_000338 exon25 c.91420-69C>T 0.333466 0.4018 Uncertain 15_48593700_-->C 15 48593700 48593700 - C indel 161.87 1/1 15 7 0 7 1.0 intronic rs60810487 SLC12A1 AR NM_000338 exon26 c.93663+121insC Uncertain 15_48623500_C->A 15 48623500 48623500 C A snp 2137.77 1/1 99 75 0 75 1.0 upstream rs12592155 DUT AU 0.253395 0.4345 Uncertain 15_48623524_C->G 15 48623524 48623524 C G snp 1573.77 1/1 99 52 0 52 1.0 upstream rs12592157 DUT AU 0.252995 0.4355 Uncertain 15_48624979_C->T 15 48624979 48624979 C T snp 1019.77 0/1 99 92 50 42 0.46 intronic rs193147871 DUT AU NM_001948 exon1 c.155+376C>T 0.000199681 0.001 Uncertain 15_48712700_T->- 15 48712700 48712700 T - indel 183.73 0/1 99 16 8 8 0.5 intronic rs3214528 FBN1 AU,AD NM_000138 exon4 c.9697-183delT 0.5002 0.3869 Uncertain 15_48713996_G->T 15 48713996 48713996 G T snp 1309.77 1/1 96 35 0 35 1.0 intronic rs1820488 FBN1 AU,AD NM_000138 exon5 c.10697+113G>T 0.919129 0.9296 Uncertain 15_48720271_C->T 15 48720271 48720271 C T snp 174.9 1/1 15 5 0 5 1.0 intronic rs3929051 FBN1 AU,AD NM_000138 exon10 c.17356-271C>T 0.789736 0.8849 Uncertain 15_48720526_G->C 15 48720526 48720526 G C snp 479.77 0/1 99 34 17 17 0.5 intronic rs363832 FBN1 AU,AD NM_000138 exon10 c.17356-16G>C 0.65595 0.6508 0.678395 0.7404 0.6464 CLINSIG=non-pathogenic;CLNDBN=not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000125022.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Uncertain 15_48726933_C->G 15 48726933 48726933 C G snp 736.77 0/1 99 70 37 33 0.47 intronic rs3825962 FBN1 AU,AD NM_000138 exon13 c.23724+23C>G 0.086262 0.2361 0.025177 0.0381 0.2372 Uncertain 15_48729648_T->C 15 48729648 48729648 T C snp 999.77 1/1 72 35 0 35 1.0 intronic rs2042746 FBN1 AU,AD NM_000138 exon15 c.26398+64T>C 0.930112 0.9762 0.900836 Uncertain 15_48736684_A->T 15 48736684 48736684 A T snp 1923.77 0/1 99 162 81 81 0.5 intronic rs2303502 FBN1 AU,AD NM_000138 exon18 c.33551-53A>T 0.620807 0.5982 Uncertain 15_48749040_-->GTGT 15 48749040 48749040 - GTGT indel 826.73 0/1 41 76 2 74 0.97 intronic rs3074895 FBN1 AU,AD NM_000138 exon23 c.45773+81insGTGT Uncertain 15_48755168_T->C 15 48755168 48755168 T C snp 685.77 0/1 99 63 35 28 0.44 intronic rs9806595 FBN1 AU,AD NM_000138 exon25 c.52092-110T>C 0.337859 0.3036 Uncertain 15_48760545_T->C 15 48760545 48760545 T C snp 755.77 0/1 99 60 27 33 0.55 intronic rs2279235 FBN1 AU,AD NM_000138 exon30 c.57422-63T>C 0.0638978 0.2371 Uncertain 15_48764942_A->G 15 48764942 48764942 A G snp 547.77 0/1 99 26 7 19 0.73 intronic rs16960981 FBN1 AU,AD NM_000138 exon32 c.61687+69A>G 0.110024 0.3323 Uncertain 15_48766250_G->C 15 48766250 48766250 G C snp 46.78 0/1 27 3 1 2 0.67 intronic rs56686382 FBN1 AU,AD NM_000138 exon33 c.63265-201G>C 0.346645 0.3512 Uncertain 15_48779402_C->T 15 48779402 48779402 C T snp 2479.77 0/1 99 250 143 107 0.43 splicing rs11853943 FBN1 AU,AD NM_000138 exon38 c.76211+5C>T 0.196486 0.3512 0.148676 0.1709 0.3522 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_provided|not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter|criteria_provided\x2c_multiple_submitters\x2c_no_conflicts;CLNACC=RCV000125004.1|RCV000154234.1;CLNDSDB=MedGen|MedGen;CLNDSDBID=CN221809|CN169374 ID=CS145757;DIS=Marfan syndrome features;TAG=R;PUB=24793577 R Pathogenic 15_48779530_G->C 15 48779530 48779530 G C snp 2322.77 0/1 99 224 129 95 0.42 exonic rs140598 FBN1 AU,AD nonsynonymous SNV NM_000138 exon28 c.C3442G p.P1148A 0.0597045 0.2292 0.003619 0.0288 0.2427 0.34 T 1.000 P -1.071 T 0.002 T 0.011 T CLINSIG=probable-non-pathogenic|non-pathogenic|non-pathogenic|non-pathogenic;CLNDBN=Marfan's_syndrome|FNB1_POLYMORPHISM|not_specified|not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter|no_assertion_criteria_provided|criteria_provided\x2c_multiple_submitters\x2c_no_conflicts|criteria_provided\x2c_single_submitter;CLNACC=RCV000029726.1|RCV000030812.1|RCV000035172.2|RCV000126384.1;CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT|.|MedGen|MedGen;CLNDSDBID=NBK1335:C0024796:154700:ORPHA558:19346006|.|CN169374|CN221809 ID=HM0656;DIS=Bicuspid aortic valve;TAG=DP;PUB=HGOL DP Pathogenic 15_48787194_C->T 15 48787194 48787194 C T snp 311.77 0/1 99 34 20 14 0.41 intronic rs7165060 FBN1 AU,AD NM_000138 exon45 c.84133-125C>T 0.0860623 0.2292 Uncertain 15_48789634_T->C 15 48789634 48789634 T C snp 252.77 0/1 99 20 12 8 0.4 intronic rs140605 FBN1 AU,AD NM_000138 exon48 c.86402+46T>C 0.378594 0.3522 0.352601 0.2933 0.3745 Uncertain 15_48795877_G->A 15 48795877 48795877 G A snp 100.77 0/1 99 9 4 5 0.56 intronic rs16961033 FBN1 AU,AD NM_000138 exon50 c.92797-106G>A 0.272165 0.3522 Uncertain 15_48797307_A->G 15 48797307 48797307 A G snp 1095.77 0/1 99 85 43 42 0.49 exonic rs25458 FBN1 AU,AD synonymous SNV NM_000138 exon16 c.T1875C p.N625N 0.296925 0.3522 0.244417 0.2006 0.3527 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=criteria_provided\x2c_multiple_submitters\x2c_no_conflicts|criteria_provided\x2c_single_submitter;CLNACC=RCV000035131.2|RCV000124994.1;CLNDSDB=MedGen|MedGen;CLNDSDBID=CN169374|CN221809 ID=CM070116;DIS=Tall stature, association with;TAG=DP;PUB=17024364 DP Uncertain 15_48797424_C->A 15 48797424 48797424 C A snp 256.77 0/1 99 16 7 9 0.56 intronic rs8037304 FBN1 AU,AD NM_000138 exon51 c.94158+80C>A 0.270767 0.3522 Uncertain 15_48802502_A->G 15 48802502 48802502 A G snp 77.77 0/1 99 7 4 3 0.43 intronic rs2291118 FBN1 AU,AD NM_000138 exon53 c.99180+136A>G 0.061901 0.2282 Uncertain 15_48805637_G->A 15 48805637 48805637 G A snp 1125.77 0/1 99 96 51 45 0.47 intronic rs2306352 FBN1 AU,AD NM_000138 exon54 c.102559-108G>A 0.401957 0.3522 Uncertain 15_48807397_C->G 15 48807397 48807397 C G snp 114.77 0/1 66 6 2 4 0.67 intronic rs75633629 FBN1 AU,AD NM_000138 exon55 c.104397-186C>G 0.0595048 0.2282 Uncertain 15_48807637_C->T 15 48807637 48807637 C T snp 3516.77 1/1 99 125 0 125 1.0 exonic rs4775765 FBN1 AU,AD nonsynonymous SNV NM_000138 exon12 c.G1415A p.C472Y 1 1 1 1 1 T 1.0 P -0.879 T 0.0 T 0.0 T Pathogenic 15_48812702_A->G 15 48812702 48812702 A G snp 41.77 0/1 57 4 2 2 0.5 intronic FBN1 AU,AD NM_000138 exon57 c.109669-153A>G Uncertain 15_48812828_T->C 15 48812828 48812828 T C snp 2226.77 0/1 99 206 106 100 0.49 intronic rs55699652 FBN1 AU,AD NM_000138 exon57 c.109669-27T>C 0.061901 0.2282 0.003619 0.0302 0.2404 Uncertain 15_48813107_G->T 15 48813107 48813107 G T snp 386.77 0/1 99 32 14 18 0.56 intronic rs2413907 FBN1 AU,AD NM_000138 exon57 c.109828+93G>T 0.185703 0.3522 Uncertain 15_48826422_AG->- 15 48826422 48826423 AG - indel 544.73 0/1 99 43 18 25 0.58 intronic rs369225785 FBN1 AU,AD NM_000138 exon59 c.123216+20_123216+21delAG 0.0656949 0.2292 0.010383 0.0281 0.2113 Uncertain 15_48826455_T->C 15 48826455 48826455 T C snp 342.77 0/1 99 18 6 12 0.67 intronic rs57512865 FBN1 AU,AD NM_000138 exon59 c.123216+53T>C 0.0654952 0.2282 Uncertain 15_48903126_A->G 15 48903126 48903126 A G snp 1990.77 1/1 99 73 0 73 1.0 intronic rs1018148 FBN1 AU,AD NM_000138 exon63 c.199837+103A>G 0.942891 1 Uncertain 15_49044538_C->G 15 49044538 49044538 C G snp 2014.77 1/1 99 75 0 75 1.0 intronic rs2306187 CEP152 AR NM_014985 exon6 c.14100-7C>G 0.324681 0.4206 0.233460 0.1989 0.4893 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=criteria_provided\x2c_multiple_submitters\x2c_no_conflicts|criteria_provided\x2c_single_submitter;CLNACC=RCV000081686.4|RCV000124240.1;CLNDSDB=MedGen|MedGen;CLNDSDBID=CN169374|CN221809 Uncertain 15_49054952_C->A 15 49054952 49054952 C A snp 335.77 0/1 99 15 5 10 0.67 intronic rs73400358 CEP152 AR NM_014985 exon9 c.24424+83C>A 0.0842652 0.0833 Uncertain 15_49059673_C->T 15 49059673 49059673 C T snp 1626.77 0/1 99 208 131 77 0.37 intronic rs9302144 CEP152 AR NM_014985 exon11 c.29215+13C>T 0.0828674 0.0823 0.044612 0.0324 0.0856 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_provided|not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter|criteria_provided\x2c_single_submitter;CLNACC=RCV000124237.1|RCV000145607.1;CLNDSDB=MedGen|MedGen;CLNDSDBID=CN221809|CN169374 Uncertain 15_49059839_C->G 15 49059839 49059839 C G snp 230.77 0/1 90 10 3 7 0.7 intronic rs189998785 CEP152 AR NM_014985 exon11 c.29215+179C>G 0.000199681 0.001 Uncertain 15_49074539_C->T 15 49074539 49074539 C T snp 714.77 1/1 54 22 0 22 1.0 intronic rs2289179 CEP152 AR NM_014985 exon16 c.43982+112C>T 0.304712 0.4236 Uncertain 15_49083577_C->T 15 49083577 49083577 C T snp 921.77 0/1 99 76 35 41 0.54 splicing rs58156069 CEP152 AR NM_014985 exon19 c.53128+4C>T 0.344649 0.3185 0.412836 0.3975 0.3523 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000145648.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 15_49097734_T->C 15 49097734 49097734 T C snp 116.77 0/1 99 13 7 6 0.46 intronic rs72739872 CEP152 AR NM_014985 exon25 c.67314-25T>C 0.2971 0.2917 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000145649.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 15_49098016_C->A 15 49098016 49098016 C A snp 629.77 1/1 48 18 0 18 1.0 intronic rs1426200 CEP152 AR NM_014985 exon25 c.67408+163C>A 0.885184 0.999 Uncertain 15_49118087_C->T 15 49118087 49118087 C T snp 1116.77 0/1 99 77 40 37 0.48 UTR3 rs3743292 SHC4 AU 0.30651 0.3165 Uncertain 15_49126856_A->C 15 49126856 49126856 A C snp 183.77 0/1 99 14 8 6 0.43 intronic rs2289182 SHC4 AU NM_203349 exon2 c.8798-109A>C 0.081869 0.0625 Uncertain 15_49135892_C->T 15 49135892 49135892 C T snp 40.77 0/1 69 8 5 3 0.38 intronic rs882824 SHC4 AU NM_203349 exon3 c.17618+107C>T 0.284744 0.3294 Uncertain 15_49143232_G->T 15 49143232 49143232 G T snp 711.77 0/1 99 44 19 25 0.57 intronic rs17467239 SHC4 AU NM_203349 exon4 c.25217-152G>T 0.315495 0.3313 Uncertain 15_49148477_G->A 15 49148477 49148477 G A snp 50.74 1/1 6 2 0 2 1.0 intronic rs7183535 SHC4 AU NM_203349 exon5 c.30154+156G>A 0.337061 0.379 Uncertain 15_49149828_C->T 15 49149828 49149828 C T snp 739.77 1/1 54 23 0 23 1.0 intronic rs4774526 SHC4 AU NM_203349 exon6 c.31721-60C>T 0.849042 0.997 Uncertain 15_49168841_G->A 15 49168841 49168841 G A snp 360.77 0/1 99 25 9 16 0.64 intronic rs34224664 SHC4 AU NM_203349 exon8 c.46172+4502G>A 0.32488 0.3363 0.5179 0.4444 Uncertain 15_49325081_G->A 15 49325081 49325081 G A snp 2464.77 0/1 99 170 79 91 0.54 intronic rs3743293 SECISBP2L AU NM_014701 exon14 c.40721-80G>A 0.0591054 0.1726 Uncertain 15_49421868_T->G 15 49421868 49421868 T G snp 817.77 1/1 60 32 0 32 1.0 intronic rs507054 COPS2 AU NM_001143887 exon3 c.1610+112T>G 0.619609 0.6567 Uncertain 15_49423098_C->T 15 49423098 49423098 C T snp 99.28 1/1 9 3 0 3 1.0 intronic rs2289390 COPS2 AU NM_001143887 exon4 c.2867+85C>T 0.61881 0.6558 Uncertain 15_49461248_C->T 15 49461248 49461248 C T snp 716.77 0/1 99 61 28 33 0.54 intronic rs577659 GALK2 AU NM_001001556 exon1 c.20+13035C>T 0.190296 0.3046 0.5 . Uncertain 15_49462638_G->A 15 49462638 49462638 G A snp 104.77 0/1 99 11 6 5 0.45 intronic rs57815447 GALK2 AU NM_002044 exon1 c.53+66G>A 0.0644968 0.1825 Uncertain 15_49620972_T->- 15 49620972 49620972 T - indel 110.27 1/1 1 21 1 20 0.95 UTR3 rs570528482 GALK2 AU 0.660743 0.6597 Uncertain 15_49663405_G->A 15 49663405 49663405 G A snp 125.78 0/1 27 5 1 4 0.8 intronic rs12903238 FAM227B AU NM_152647 exon5 c.42734-93G>A 0.405152 0.3839 Uncertain 15_49716845_T->C 15 49716845 49716845 T C snp 99.77 0/1 99 10 6 4 0.4 intronic rs16962440 FAM227B AU NM_152647 exon5 c.42832+53249T>C 0.570288 0.6409 Uncertain 15_49800394_G->A 15 49800394 49800394 G A snp 1401.77 0/1 99 103 43 60 0.58 intronic rs58845336 FAM227B AU NM_152647 exon6 c.179643-13G>A 0.3748 0.3938 0.329302 0.3088 0.3710 Uncertain 15_49867122_A->G 15 49867122 49867122 A G snp 143.03 1/1 12 6 0 6 1.0 intronic rs12901416 FAM227B AU NM_152647 exon9 c.246443-85A>G 0.733626 0.9375 Uncertain 15_49867148_T->C 15 49867148 49867148 T C snp 366.78 1/1 27 15 0 15 1.0 intronic rs12902794 FAM227B AU NM_152647 exon9 c.246443-59T>C 0.734026 0.9375 Uncertain 15_49867323_G->A 15 49867323 49867323 G A snp 501.77 1/1 36 21 0 21 1.0 intronic rs12902107 FAM227B AU NM_152647 exon9 c.246542+17G>A 0.733626 0.9375 0.697334 0.7367 0.9307 Uncertain 15_49869141_C->G 15 49869141 49869141 C G snp 305.77 0/1 99 18 7 11 0.61 intronic rs12912703 FAM227B AU NM_152647 exon10 c.248278+99C>G 0.18131 0.1637 Uncertain 15_49923026_C->G 15 49923026 49923026 C G snp 264.77 0/1 94 14 4 10 0.71 intronic rs1976551 DTWD1 AU NM_020234 exon4 c.6991-1329C>G 0.303714 0.1696 Uncertain 15_50088430_T->A 15 50088430 50088430 T A snp 56.74 1/1 6 2 0 2 1.0 intergenic rs2930535 DTWD1 AU 0.940895 0.9236 Uncertain 15_50152583_G->T 15 50152583 50152583 G T snp 3419.77 1/1 99 109 0 109 1.0 exonic rs4774549 ATP8B4 AU synonymous SNV NM_024837 exon28 c.C3387A p.G1129G 1 1 1.0000 0.9995 Uncertain 15_50171694_C->T 15 50171694 50171694 C T snp 338.77 0/1 99 29 15 14 0.48 intronic rs3803363 ATP8B4 AU NM_024837 exon5 c.19266+38C>T 0.236222 0.4851 0.156524 0.1994 0.5059 Uncertain 15_50193553_G->A 15 50193553 50193553 G A snp 214.84 1/1 18 6 0 6 1.0 intronic rs2009833 ATP8B4 AU NM_024837 exon8 c.41046+117G>A 0.507388 0.8611 Uncertain 15_50209357_G->A 15 50209357 50209357 G A snp 38.77 0/1 67 6 3 3 0.5 intronic rs35453457 ATP8B4 AU NM_024837 exon9 c.56846+121G>A 0.202077 0.3909 Uncertain 15_50210933_T->A 15 50210933 50210933 T A snp 295.77 0/1 99 16 7 9 0.56 intronic rs12441816 ATP8B4 AU NM_024837 exon10 c.58645-102T>A 0.109026 0.3185 Uncertain 15_50226313_G->T 15 50226313 50226313 G T snp 1824.77 0/1 99 162 85 77 0.48 exonic rs2452524 ATP8B4 AU nonsynonymous SNV NM_024837 exon15 c.C1354A p.H452N 0.639776 0.4087 0.743722 0.6624 0.4299 0.36 T 0.0 P -1.000 T 0.0 T 0.0 T Pathogenic 15_50254280_T->C 15 50254280 50254280 T C snp 308.77 0/1 99 47 34 13 0.28 intronic rs12442430 ATP8B4 AU NM_024837 exon15 c.101827+63T>C 0.336861 0.3413 0.434263 Uncertain 15_50254390_C->A 15 50254390 50254390 C A snp 123.78 0/1 27 5 1 4 0.8 intronic rs2413988 ATP8B4 AU NM_024837 exon15 c.101827+173C>A 0.304712 0.5923 Uncertain 15_50254413_G->A 15 50254413 50254413 G A snp 94.28 1/1 9 3 0 3 1.0 intronic rs79994485 ATP8B4 AU NM_024837 exon15 c.101827+196G>A 0.11901 0.2937 Uncertain 15_50272085_A->G 15 50272085 50272085 A G snp 489.77 0/1 99 30 14 16 0.53 intronic rs8034382 ATP8B4 AU NM_024837 exon17 c.119620+75A>G 0.415935 0.3433 Uncertain 15_50279662_T->C 15 50279662 50279662 T C snp 2016.77 0/1 99 179 85 94 0.53 exonic rs16963151 ATP8B4 AU nonsynonymous SNV NM_024837 exon10 c.A674G p.N225S 0.292133 0.3304 0.271684 0.2507 0.3452 0.86 T 0.011 P -1.020 T 0.0 T 0.006 T Pathogenic 15_50288937_G->A 15 50288937 50288937 G A snp 1811.77 0/1 99 202 116 86 0.43 exonic rs116334504 ATP8B4 AU nonsynonymous SNV NM_024837 exon9 c.C526T p.R176C 0.00359425 0.0119 0.000154 0.0022 0.0169 0 D 1.000 D 0.672 D 1.0 D 0.989 D Pathogenic 15_50311135_C->A 15 50311135 50311135 C A snp 7210.77 1/1 99 249 1 248 1.0 intronic rs12591825 ATP8B4 AU NM_024837 exon22 c.150724+8021C>A 0.730431 0.9891 0.6551 0.9924 Uncertain 15_50311148_A->G 15 50311148 50311148 A G snp 7119.77 1/1 99 247 0 247 1.0 intronic rs11070741 ATP8B4 AU NM_024837 exon22 c.150724+8034A>G 0.817292 0.9911 0.6978 0.9924 Uncertain 15_50366116_-->A 15 50366116 50366116 - A indel 520.73 0/1 99 31 15 16 0.52 intronic rs11412296 ATP8B4 AU NM_024837 exon26 c.213933-207insA 0.196486 0.3244 Uncertain 15_50474766_A->C 15 50474766 50474766 A C snp 6563.77 1/1 99 239 1 238 1.0 exonic rs1648348 SLC27A2 AU nonsynonymous SNV NM_001159629 exon1 c.A142C p.K48Q 0.613019 0.8095 0.584015 0.6847 0.8166 0.43 T 0.000 P -0.924 T 0.0 T 0.002 T Pathogenic 15_50489677_A->T 15 50489677 50489677 A T snp 2072.77 1/1 99 74 0 74 1.0 intronic rs1863511 SLC27A2 AU NM_003645 exon2 c.15072-19A>T 0.971446 1 0.977112 0.9934 1 Uncertain 15_50521265_-->A 15 50521265 50521265 - A indel 8341.73 1/1 99 213 0 213 1.0 intronic rs397786074 SLC27A2 AU NM_003645 exon8 c.46615+26insA 0.747005 0.6498 0.835703 0.8295 0.6526 Uncertain 15_50546934_TTTC->- 15 50546934 50546937 TTTC - indel 1821.73 1/1 96 32 0 32 1.0 intronic rs367785479 HDC AD NM_002112 exon8 c.12405+73_12405+76delTTTC ID=COSN168901;OCCURENCE=1(large_intestine) Likely pathogenic 15_50555710_T->C 15 50555710 50555710 T C snp 539.77 0/1 99 51 28 23 0.45 intronic rs854160 HDC AD NM_002112 exon11 c.21148+106T>C 0.528155 0.3631 Uncertain 15_50557738_G->A 15 50557738 50557738 G A snp 1405.77 0/1 99 122 60 62 0.51 intronic rs854163 HDC AD NM_002112 exon12 c.23333-51G>A 0.18111 0.0813 0.229759 Uncertain 15_50652410_T->G 15 50652410 50652410 T G snp 80.77 0/1 69 5 2 3 0.6 upstream MIR4712 AU Uncertain 15_50754339_G->A 15 50754339 50754339 G A snp 160.77 0/1 99 12 5 7 0.58 intronic rs3098169 USP8 AU NM_005154 exon6 c.23206-137G>A 0.554912 0.627 Uncertain 15_50764116_G->T 15 50764116 50764116 G T snp 93.28 1/1 9 3 0 3 1.0 intronic USP8 AU NM_005154 exon8 c.32722+124G>T Uncertain 15_50773755_G->A 15 50773755 50773755 G A snp 1856.77 1/1 99 65 0 65 1.0 exonic rs3131561 USP8 AU synonymous SNV NM_005154 exon11 c.G1296A p.Q432Q 0.992212 1 0.991525 0.9974 1 Uncertain 15_50782335_G->A 15 50782335 50782335 G A snp 158.77 0/1 97 8 3 5 0.63 intronic rs2289108 USP8 AU NM_005154 exon14 c.51189-124G>A 0.422524 0.372 Uncertain 15_50787955_T->C 15 50787955 50787955 T C snp 238.77 0/1 99 22 10 12 0.55 intronic rs17645290 USP8 AU NM_005154 exon17 c.56774-89T>C 0.27476 0.495 Uncertain 15_50821945_G->A 15 50821945 50821945 G A snp 790.77 0/1 99 90 56 34 0.38 intronic rs3098200 USP50 AU NM_203494 exon2 c.29028-48G>A 0.49361 0.504 0.478494 0.4749 0.4769 Uncertain 15_50822215_-->TT 15 50822215 50822215 - TT indel 386.73 0/1 99 24 10 14 0.58 intronic rs141101722 USP50 AU NM_203494 exon2 c.29161+89insTT 0.208666 0.499 Uncertain 15_50822277_A->G 15 50822277 50822277 A G snp 54.74 1/1 6 2 0 2 1.0 intronic rs3109896 USP50 AU NM_203494 exon2 c.29161+151A>G 0.960463 0.9861 Uncertain 15_50831175_T->A 15 50831175 50831175 T A snp 403.77 0/1 99 29 15 14 0.48 intronic rs3101860 USP50 AU NM_203494 exon3 c.38083+127T>A 0.205471 0.494 Uncertain 15_50854030_A->- 15 50854030 50854030 A - indel 140.74 0/1 0 13 1 12 0.92 intronic rs398078178 TRPM7 AD NM_017672 exon1 c.131+25delA 0.390575 0.504 0.364049 0.4711 0.5212 Uncertain 15_50867082_G->A 15 50867082 50867082 G A snp 1600.77 0/1 99 142 73 69 0.49 exonic rs473357 TRPM7 AD synonymous SNV NM_017672 exon34 c.C4986T p.Y1662Y 0.611621 0.6121 0.593282 0.5704 0.5532 Uncertain 15_50873262_A->G 15 50873262 50873262 A G snp 96.28 1/1 9 3 0 3 1.0 intronic rs2414060 TRPM7 AD NM_017672 exon10 c.19231+157A>G 0.391374 0.496 Uncertain 15_50878478_G->A 15 50878478 50878478 G A snp 116.77 0/1 99 9 5 4 0.44 intronic rs539383 TRPM7 AD NM_017672 exon12 c.24714-110G>A 0.570887 0.6111 Uncertain 15_50878509_T->C 15 50878509 50878509 T C snp 143.77 0/1 99 16 9 7 0.44 intronic rs1395297 TRPM7 AD NM_017672 exon12 c.24714-79T>C 0.39377 0.496 Uncertain 15_50878574_G->A 15 50878574 50878574 G A snp 196.77 0/1 99 42 31 11 0.26 intronic rs3109894 TRPM7 AD NM_017672 exon12 c.24714-14G>A 0.390974 0.496 0.362473 0.4276 0.4816 Uncertain 15_50885976_G->T 15 50885976 50885976 G T snp 118.77 0/1 99 22 16 6 0.27 intronic rs567109 TRPM7 AD NM_017672 exon15 c.32072+30G>T 0.570687 0.6111 0.556973 0.5589 0.5528 Uncertain 15_50886493_C->T 15 50886493 50886493 C T snp 56.74 1/1 6 2 0 2 1.0 intronic rs644890 TRPM7 AD NM_017672 exon16 c.32751-132C>T 0.536142 0.6121 Uncertain 15_50888619_A->T 15 50888619 50888619 A T snp 248.84 0/1 18 10 1 9 0.9 intronic rs675011 TRPM7 AD NM_017672 exon17 c.34704+41A>T 0.99381 1 0.992941 0.9980 1 Uncertain 15_50899211_C->T 15 50899211 50899211 C T snp 83.77 0/1 69 5 2 3 0.6 intronic rs12439744 TRPM7 AD NM_017672 exon20 c.45522-185C>T 0.353035 0.496 Uncertain 15_50899309_C->A 15 50899309 50899309 C A snp 498.77 0/1 99 45 21 24 0.53 intronic rs11633404 TRPM7 AD NM_017672 exon20 c.45522-87C>A 0.495407 0.501 Uncertain 15_50899616_A->G 15 50899616 50899616 A G snp 56.74 1/1 6 2 0 2 1.0 intronic rs11636964 TRPM7 AD NM_017672 exon20 c.45651+91A>G 0.353035 0.496 Uncertain 15_50901930_A->- 15 50901930 50901930 A - indel 410.73 0/1 99 50 24 26 0.52 intronic rs35281039 TRPM7 AD NM_017672 exon21 c.48047+9delA 0.5347 0.5492 Uncertain 15_50903600_C->T 15 50903600 50903600 C T snp 258.77 0/1 99 21 10 11 0.52 intronic rs4775894 TRPM7 AD NM_017672 exon23 c.49644+82C>T 0.479433 0.499 Uncertain 15_50911866_T->- 15 50911866 50911866 T - indel 128.37 0/1 8 7 1 6 0.86 intronic rs34352984 TRPM7 AD NM_017672 exon27 c.58067-75delT 0.378994 0.5159 Uncertain 15_50924956_A->G 15 50924956 50924956 A G snp 37.77 0/1 66 4 2 2 0.5 intronic rs2292174 TRPM7 AD NM_017672 exon31 c.71191-109A>G 0.330072 0.496 Uncertain 15_50924995_G->A 15 50924995 50924995 G A snp 278.77 0/1 99 14 4 10 0.71 intronic rs2292175 TRPM7 AD NM_017672 exon31 c.71191-70G>A 0.484425 0.6081 Uncertain 15_50941108_C->G 15 50941108 50941108 C G snp 1731.77 1/1 99 52 0 52 1.0 intronic rs2063011 TRPM7 AD NM_017672 exon36 c.87208+26C>G 0.969249 0.9861 0.967925 0.9896 0.9837 Uncertain 15_50941131_A->G 15 50941131 50941131 A G snp 246.77 0/1 99 26 18 8 0.31 intronic rs2063010 TRPM7 AD NM_017672 exon36 c.87208+49A>G 0.328674 0.4901 0.307659 0.4108 0.4811 Uncertain 15_51014234_C->T 15 51014234 51014234 C T snp 240.77 0/1 91 16 6 10 0.63 intronic rs76899459 SPPL2A AU NM_032802 exon3 c.14324-86C>T 0.0257588 0.0387 Uncertain 15_51040798_T->C 15 51040798 51040798 T C snp 340.77 0/1 99 30 16 14 0.47 intronic rs8035452 SPPL2A AU NM_032802 exon13 c.40888-86T>C 0.442891 0.631 Uncertain 15_51041774_T->C 15 51041774 51041774 T C snp 796.77 0/1 99 83 48 35 0.42 intronic rs2414067 SPPL2A AU NM_032802 exon14 c.41836-58T>C 0.0329473 0.0565 Uncertain 15_51057868_C->A 15 51057868 51057868 C A snp 43.77 0/1 69 5 3 2 0.4 UTR5 rs3896609 SPPL2A AU 0.182308 0.4931 Uncertain 15_51204364_G->A 15 51204364 51204364 G A snp 2967.77 0/1 99 220 93 127 0.58 intronic rs1147129 AP4E1 AR,AD NM_007347 exon2 c.3371+18G>A 0.559105 0.375 0.562789 0.5653 0.4244 Uncertain 15_51204394_-->T 15 51204394 51204394 - T indel 4662.73 0/1 99 203 85 118 0.58 intronic rs3214932 AP4E1 AR,AD NM_007347 exon2 c.3371+48insT 0.563698 0.375 0.569728 0.5661 0.4234 Uncertain 15_51207818_G->C 15 51207818 51207818 G C snp 523.77 0/1 99 36 16 20 0.56 intronic rs2663553 AP4E1 AR,AD NM_007347 exon3 c.6793+50G>C 0.563299 0.375 0.569821 0.5665 0.4246 Uncertain 15_51217361_T->C 15 51217361 51217361 T C snp 1354.77 0/1 99 134 69 65 0.49 exonic rs2306331 AP4E1 AR,AD nonsynonymous SNV NM_007347 exon5 c.T487C p.C163R 0.440895 0.625 0.437134 0.4351 0.5757 1 T 0.079 P -0.961 T 0.0 T 0.0 T CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000116365.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 15_51217475_G->A 15 51217475 51217475 G A snp 202.77 0/1 99 19 9 10 0.53 intronic rs2306332 AP4E1 AR,AD NM_007347 exon5 c.16441+59G>A 0.570887 0.63 Uncertain 15_51233812_T->C 15 51233812 51233812 T C snp 1575.77 0/1 99 132 67 65 0.49 intronic rs2291107 AP4E1 AR,AD NM_007347 exon10 c.32887-50T>C 0.208267 0.4752 0.195485 0.2316 0.4612 Uncertain 15_51240399_TGCAGTGACTT->- 15 51240399 51240409 TGCAGTGACTT - indel 3654.73 0/1 99 59 24 35 0.59 intronic rs144809125 AP4E1 AR,AD NM_007347 exon11 c.39381+43_39381+53delTGCAGTGACTT 0.208466 0.4752 0.181011 0.2232 0.4388 Uncertain 15_51276128_A->G 15 51276128 51276128 A G snp 250.77 0/1 99 15 7 8 0.53 intronic rs2306335 AP4E1 AR,AD NM_007347 exon16 c.75243-90A>G 0.732428 0.5714 Uncertain 15_51293164_-->T 15 51293164 51293164 - T indel 384.73 0/1 99 22 10 12 0.55 intronic rs3840015 AP4E1 AR,AD NM_007347 exon20 c.92247-58insT 0.565895 0.621 Uncertain 15_51294832_G->A 15 51294832 51294832 G A snp 751.77 0/1 99 84 49 35 0.42 exonic rs3825798 AP4E1 AR,AD synonymous SNV NM_007347 exon21 c.G3387A p.Q1129Q 0.204073 0.4653 0.189629 0.2206 0.4511 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000116364.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 15_51350656_T->- 15 51350656 51350656 T - indel 543.73 1/1 45 16 0 16 1.0 intronic rs76241791 TNFAIP8L3 AU NM_207381 exon1 c.563+16delT 0.992612 1 0.9633 0.9702 Uncertain 15_51386893_CGGGCGGCG->- 15 51386893 51386901 CGGGCGGCG - indel 1142.73 0/1 99 31 10 21 0.68 intronic rs201887319 TNFAIP8L3 AU NM_207381 exon2 c.36807+9_36807+17delCGGGCGGCG 0.207867 0.4593 0.0625 . Uncertain 15_51502844_A->C 15 51502844 51502844 A C snp 4760.77 1/1 99 169 0 169 1.0 UTR3 rs4646 CYP19A1 AU,AD 0.664337 0.7034 0.7122 0.7070 Uncertain 15_51502986_G->A 15 51502986 51502986 G A snp 6404.77 1/1 99 221 0 221 1.0 UTR3 rs10046 CYP19A1 AU,AD 0.362819 0.5218 0.432886 0.4492 0.5167 ID=CR005436;DIS=Increased activity in tumours;TAG=FP;PUB=10713674 FP Uncertain 15_51503727_G->A 15 51503727 51503727 G A snp 139.03 1/1 12 4 0 4 1.0 intronic rs12591172 CYP19A1 AU,AD NM_031226 exon1 c.249+474G>A 0.416933 0.5228 Uncertain 15_51503881_T->A 15 51503881 51503881 T A snp 1345.77 1/1 96 50 0 50 1.0 intronic rs28757202 CYP19A1 AU,AD NM_031226 exon1 c.249+628T>A 0.373003 0.5238 0.3998 0.5152 Uncertain 15_51503897_G->A 15 51503897 51503897 G A snp 1435.77 1/1 99 55 0 55 1.0 intronic rs28757201 CYP19A1 AU,AD NM_031226 exon2 c.1512-619G>A 0.344649 0.5228 0.3850 0.5152 Uncertain 15_51504061_C->T 15 51504061 51504061 C T snp 218.84 1/1 18 6 0 6 1.0 intronic rs28757200 CYP19A1 AU,AD NM_031226 exon2 c.1512-455C>T 0.371805 0.5228 Uncertain 15_51504811_A->C 15 51504811 51504811 A C snp 1063.77 1/1 78 27 0 27 1.0 intronic rs1065779 CYP19A1 AU,AD NM_031226 exon2 c.1754+53A>C 0.378395 0.5228 Uncertain 15_51507508_T->C 15 51507508 51507508 T C snp 1709.77 1/1 99 57 0 57 1.0 intronic rs2289105 CYP19A1 AU,AD NM_031226 exon3 c.4425+79T>C 0.371805 0.5258 Uncertain 15_51507782_T->G 15 51507782 51507782 T G snp 4347.77 1/1 99 144 0 144 1.0 intronic rs2289106 CYP19A1 AU,AD NM_031226 exon4 c.4895-117T>G 0.371805 0.5258 Uncertain 15_51508120_A->C 15 51508120 51508120 A C snp 588.77 1/1 45 15 0 15 1.0 intronic rs2304463 CYP19A1 AU,AD NM_031226 exon4 c.5010+106A>C 0.373602 0.5337 Uncertain 15_51510702_T->A 15 51510702 51510702 T A snp 1084.77 1/1 78 41 0 41 1.0 intronic rs1143704 CYP19A1 AU,AD NM_031226 exon5 c.7733-35T>A 0.366214 0.5208 0.426468 0.4863 0.5503 ID=CS066630;DIS=Alzheimer's, in APOE4 carriers, increased risk, association;TAG=DP;PUB=16882736 DP Uncertain 15_51510868_A->C 15 51510868 51510868 A C snp 3598.77 1/1 99 125 0 125 1.0 intronic rs4324076 CYP19A1 AU,AD NM_031226 exon5 c.7848+16A>C 0.367212 0.5208 0.397596 0.4867 0.5473 Uncertain 15_51519945_-->AAG 15 51519945 51519945 - AAG indel 4941.73 1/1 99 88 0 88 1.0 intronic rs11575899 CYP19A1 AU,AD NM_031226 exon7 c.16971-30insAAG 0.675519 0.7212 0.651382 0.6595 0.6769 Uncertain 15_51520206_T->C 15 51520206 51520206 T C snp 313.77 0/1 99 32 20 12 0.38 intronic rs1065778 CYP19A1 AU,AD NM_031226 exon7 c.17126+76T>C 0.325879 0.4385 Uncertain 15_51529112_T->C 15 51529112 51529112 T C snp 530.77 0/1 99 67 42 25 0.37 exonic rs700518 CYP19A1 AU,AD synonymous SNV NM_031226 exon4 c.A240G p.V80V 0.325879 0.4385 0.404608 0.4253 0.4349 ID=CM068495;DIS=Increased cortical bone mass density, association with;TAG=DP;PUB=16418790 DP Uncertain 15_51529265_T->C 15 51529265 51529265 T C snp 464.77 0/1 99 27 10 17 0.63 intronic rs3759811 CYP19A1 AU,AD NM_031226 exon8 c.26202+59T>C 0.325679 0.4375 Uncertain 15_51534547_C->A 15 51534547 51534547 C A snp 711.77 1/1 51 30 0 30 1.0 intronic rs727479 CYP19A1 AU,AD NM_031226 exon9 c.31960-417C>A 0.716454 0.7192 ID=CS066628;DIS=Alzheimer's, in APOE4 carriers, increased risk, association;TAG=DP;PUB=16882736 DP Uncertain 15_51634255_T->G 15 51634255 51634255 T G snp 1590.77 0/1 99 155 82 73 0.47 intronic rs2446421 GLDN AR NM_181789 exon1 c.363+11T>G 0.630791 0.5476 0.576198 0.4975 0.5813 Uncertain 15_51634304_G->T 15 51634304 51634304 G T snp 1051.77 0/1 99 103 58 45 0.44 intronic rs11632569 GLDN AR NM_181789 exon1 c.363+60G>T 0.208866 0.2014 Uncertain 15_51634312_G->T 15 51634312 51634312 G T snp 895.77 0/1 99 89 51 38 0.43 intronic rs11632571 GLDN AR NM_181789 exon1 c.363+68G>T 0.208866 0.2014 Uncertain 15_51669625_A->C 15 51669625 51669625 A C snp 985.77 0/1 99 115 68 47 0.41 intronic rs17602686 GLDN AR NM_181789 exon2 c.35764-20A>C 0.116214 0.0933 0.154415 0.1692 0.0810 Uncertain 15_51675625_C->T 15 51675625 51675625 C T snp 848.77 0/1 99 74 35 39 0.53 intronic rs2445738 GLDN AR NM_181789 exon3 c.41751-7C>T 0.57508 0.4583 0.525274 0.4299 0.5009 Uncertain 15_51675933_T->- 15 51675933 51675933 T - indel 152.37 0/1 8 14 3 11 0.79 intronic rs11306243 GLDN AR NM_181789 exon4 c.42100-48delT 0.425319 0.4633 0.4177 0.4140 Uncertain 15_51689624_A->C 15 51689624 51689624 A C snp 110.77 0/1 99 12 7 5 0.42 intronic rs1147142 GLDN AR NM_181789 exon6 c.55785-42A>C 0.834864 0.6577 0.919147 0.8727 0.6718 Uncertain 15_51748407_-->AAGC 15 51748407 51748407 - AAGC indel 3804.73 0/1 99 135 59 76 0.56 intronic rs200181576 DMXL2 AR NM_001174117 exon6 c.7210+17insAAGC 0.0109824 0.0238 0.000559 0.0074 0.0291 Uncertain 15_51914778_T->G 15 51914778 51914778 T G snp 2479.77 1/1 99 94 1 93 0.99 UTR5 rs6493514 DMXL2 AR 0.871206 0.9911 0.806436 0.8056 0.9875 Uncertain 15_51980311_G->A 15 51980311 51980311 G A snp 93.28 1/1 9 3 0 3 1.0 intronic rs2606145 SCG3 AU NM_013243 exon5 c.6504-145G>A 0.869209 0.9891 Uncertain 15_51981596_GGGT->- 15 51981596 51981599 GGGT - indel 3077.73 1/1 99 60 0 60 1.0 intronic rs201709954 SCG3 AU NM_013243 exon6 c.7613+31_7613+34delGGGT 0.3173 0.4830 Uncertain 15_51991454_C->T 15 51991454 51991454 C T snp 1253.77 1/1 90 41 0 41 1.0 intronic rs2622774 SCG3 AU NM_013243 exon9 c.17563-61C>T 0.3752 0.5476 Uncertain 15_52017345_A->G 15 52017345 52017345 A G snp 164.77 0/1 99 29 21 8 0.28 intronic rs2414116 LYSMD2 AU NM_153374 exon2 c.1515+27A>G 0.508986 0.5139 0.541963 0.5501 0.5235 Uncertain 15_52043327_C->T 15 52043327 52043327 C T snp 1388.77 0/1 99 95 38 57 0.6 intronic rs12903500 LYSMD2 AU NM_001143917 exon3 c.27664-140C>T 0.374601 0.369 Uncertain 15_52060657_-->T 15 52060657 52060657 - T indel 568.73 0/1 99 105 40 65 0.62 intronic rs544285383 TMOD2 AU NM_001142885 exon3 c.1977+42insT 0.367612 0.3413 0.3929 0.3673 Uncertain 15_52060806_A->G 15 52060806 52060806 A G snp 99.28 1/1 9 4 1 3 0.75 intronic rs12904413 TMOD2 AU NM_001142885 exon3 c.1977+191A>G 0.386981 0.369 Uncertain 15_52066189_A->C 15 52066189 52066189 A C snp 192.77 0/1 99 11 5 6 0.55 intronic rs690638 TMOD2 AU NM_001142885 exon4 c.7393+158A>C 0.739018 0.4514 Uncertain 15_52098901_T->A 15 52098901 52098901 T A snp 37.77 0/1 66 6 4 2 0.33 intronic rs17526463 TMOD2 AU NM_001142885 exon8 c.40080+183T>A 0.361621 0.3631 Uncertain 15_52155314_T->C 15 52155314 52155314 T C snp 292.77 0/1 99 17 7 10 0.59 intronic rs2570251 TMOD3 AU NM_014547 exon2 c.126+107T>C 0.427915 0.3492 Uncertain 15_52179679_T->A 15 52179679 52179679 T A snp 35.77 0/1 64 6 4 2 0.33 intronic rs2912186 TMOD3 AU NM_014547 exon4 c.24704-106T>A 0.313898 0.2798 Uncertain 15_52185937_G->A 15 52185937 52185937 G A snp 421.77 0/1 99 28 11 17 0.61 intronic rs2959307 TMOD3 AU NM_014547 exon6 c.30930-74G>A 0.318291 0.2758 Uncertain 15_52185961_-->A 15 52185961 52185961 - A indel 589.84 1/1 16 38 4 34 0.89 intronic rs11370809 TMOD3 AU NM_014547 exon6 c.30930-50insA 0.536542 0.6121 0.505352 0.4908 0.5755 Uncertain 15_52186158_A->C 15 52186158 52186158 A C snp 646.77 0/1 99 52 27 25 0.48 intronic rs2959285 TMOD3 AU NM_014547 exon6 c.31061+16A>C 0.322284 0.2758 0.362592 0.3902 0.2757 Uncertain 15_52246665_G->A 15 52246665 52246665 G A snp 998.77 0/1 99 72 30 42 0.58 intronic rs2959293 LEO1 AU NM_138792 exon6 c.16325-12G>A 0.301917 0.2788 0.344535 0.3826 0.2774 Uncertain 15_52250789_T->C 15 52250789 52250789 T C snp 211.8 0/1 21 10 1 9 0.9 intronic rs2593187 LEO1 AU NM_138792 exon7 c.20586-149T>C 0.4377 0.4226 Uncertain 15_52252799_C->T 15 52252799 52252799 C T snp 2271.77 1/1 99 77 0 77 1.0 intronic rs2258248 LEO1 AU NM_138792 exon9 c.22483-36C>T 0.747404 0.9802 0.597179 0.6273 0.9944 Uncertain 15_52257874_A->G 15 52257874 52257874 A G snp 875.77 0/1 99 49 19 30 0.61 intronic rs2241503 LEO1 AU NM_138792 exon11 c.27593-71A>G 0.441893 0.4236 Uncertain 15_52264094_T->C 15 52264094 52264094 T C snp 740.77 0/1 99 48 25 23 0.48 upstream rs17612102 LEO1 AU 0.688898 0.7262 Uncertain 15_52350669_A->G 15 52350669 52350669 A G snp 56.74 1/1 6 2 0 2 1.0 intronic rs10851507 MAPK6 AU NM_002748 exon4 c.12172-160A>G 0.23762 0.4623 Uncertain 15_52401933_A->G 15 52401933 52401933 A G snp 410.77 0/1 99 35 19 16 0.46 UTR3 rs2231297 BCL2L10 AU 0.221246 0.1895 Uncertain 15_52401951_G->A 15 52401951 52401951 G A snp 576.77 0/1 99 43 20 23 0.53 UTR3 rs2227308 BCL2L10 AU 0.148762 0.1865 Uncertain 15_52402232_C->T 15 52402232 52402232 C T snp 115.77 0/1 99 12 6 6 0.5 intronic rs2231294 BCL2L10 AU NM_020396 exon1 c.126+62C>T 0.0121805 0.0536 Uncertain 15_52404862_A->C 15 52404862 52404862 A C snp 1486.77 0/1 99 117 54 63 0.54 exonic rs2231292 BCL2L10 AU nonsynonymous SNV NM_020396 exon1 c.T62G p.L21R 0.536542 0.4236 0.381552 0.4627 0.4887 1 T 0.0 P -0.997 T 0.0 T 0.0 T Pathogenic 15_52404934_C->T 15 52404934 52404934 C T snp 588.77 0/1 99 43 20 23 0.53 UTR5 rs4776003 BCL2L10 AU 0.221645 0.1736 0.2420 0.2539 Uncertain 15_52420491_G->T 15 52420491 52420491 G T snp 561.77 0/1 99 80 49 31 0.39 intronic rs12909161 GNB5 AR NM_006578 exon4 c.5488+50G>T 0.13139 0.1726 0.115290 0.1674 0.1864 Uncertain 15_52486306_C->T 15 52486306 52486306 C T snp 551.77 0/1 99 32 8 24 0.75 ncRNA_intronic rs11855672 LOC100129973 AU 0.151158 0.0883 Uncertain 15_52487466_G->A 15 52487466 52487466 G A snp 53.77 0/1 82 15 12 3 0.2 ncRNA_intronic rs3751603 LOC100129973 AU 0.170927 0.4395 Uncertain 15_52503895_T->C 15 52503895 52503895 T C snp 1453.77 0/1 99 101 41 60 0.59 intronic rs34276836 MYO5C AU NM_018728 exon7 c.17828-31T>C 0.184904 0.0913 0.188243 0.2072 0.0896 Uncertain 15_52510669_C->T 15 52510669 52510669 C T snp 1103.77 0/1 99 79 34 45 0.57 intronic rs3751609 MYO5C AU NM_018728 exon10 c.24617-46C>T 0.198682 0.4296 0.075112 0.1196 0.4979 Uncertain 15_52515678_G->T 15 52515678 52515678 G T snp 899.77 0/1 99 68 30 38 0.56 intronic rs4405492 MYO5C AU NM_018728 exon13 c.29642-62G>T 0.650359 0.3343 Uncertain 15_52517714_C->T 15 52517714 52517714 C T snp 3218.75 0/1 99 242 122 120 0.5 exonic rs3825801 MYO5C AU nonsynonymous SNV NM_018728 exon26 c.G3223A p.E1075K 0.104034 0.2649 0.078177 0.1006 0.2506 0.12 T 1.0 P -0.994 T 0.106 T 0.018 T Pathogenic 15_52517737_A->C 15 52517737 52517737 A C snp 2820.77 0/1 99 234 113 121 0.52 intronic rs11070887 MYO5C AU NM_018728 exon16 c.31631+8A>C 0.303315 0.5556 0.136590 0.1562 0.6291 Uncertain 15_52521530_AAT->- 15 52521530 52521532 AAT - indel 1229.73 0/1 99 63 32 31 0.49 intronic rs3838857 MYO5C AU NM_018728 exon17 c.35412+20_35412+22delAAT 0.220647 0.4494 0.088225 0.1249 0.5203 Uncertain 15_52531877_A->G 15 52531877 52531877 A G snp 604.77 0/1 99 55 30 25 0.45 intronic rs17650541 MYO5C AU NM_018728 exon21 c.45831-52A>G 0.117812 0.2599 Uncertain 15_52531941_A->G 15 52531941 52531941 A G snp 1282.77 0/1 99 120 67 53 0.44 exonic rs11635028 MYO5C AU synonymous SNV NM_018728 exon21 c.T2692C p.L898L 0.592851 0.3085 0.816921 0.7978 0.2867 Uncertain 15_52539673_C->T 15 52539673 52539673 C T snp 3698.77 1/1 99 130 0 130 1.0 exonic rs10163109 MYO5C AU synonymous SNV NM_018728 exon15 c.G1863A p.R621R 0.863818 0.8681 0.914074 0.9466 0.8774 Uncertain 15_52540783_-->CA 15 52540783 52540783 - CA indel 679.73 0/1 99 55 34 21 0.38 intronic rs35030676 MYO5C AU NM_018728 exon28 c.54798-113insCA 0.135583 0.2609 Uncertain 15_52548759_-->ACAC 15 52548759 52548759 - ACAC indel 2294.73 1/1 87 44 1 43 0.98 intronic rs373248361 MYO5C AU NM_018728 exon31 c.62737-76insACAC Uncertain 15_52553007_C->G 15 52553007 52553007 C G snp 1765.77 1/1 99 61 0 61 1.0 intronic rs4497629 MYO5C AU NM_018728 exon32 c.66960-51C>G 0.971845 1 0.971399 Uncertain 15_52556429_A->G 15 52556429 52556429 A G snp 2024.77 1/1 99 69 0 69 1.0 exonic rs4776032 MYO5C AU synonymous SNV NM_018728 exon9 c.T1005C p.N335N 0.972444 1 0.969685 0.9921 1 0.09 T 1.000 P -0.845 T 0.0 T 0.001 T Likely benign 15_52564191_T->C 15 52564191 52564191 T C snp 318.77 0/1 51 12 2 10 0.83 intronic rs3751629 MYO5C AU NM_018728 exon35 c.77943+150T>C 0.628994 0.3839 Uncertain 15_52570093_G->A 15 52570093 52570093 G A snp 528.77 0/1 99 37 17 20 0.54 intronic rs78359326 MYO5C AU NM_018728 exon38 c.84971-976G>A 0.0830671 0.1151 0.0225 0.0682 0.71 T 0.0 P -0.937 T Uncertain 15_52611451_A->G 15 52611451 52611451 A G snp 4483.77 1/1 99 167 0 167 1.0 exonic rs2290332 MYO5A AR synonymous SNV NM_000259 exon38 c.T4965C p.D1655D 0.328674 0.5774 0.182677 0.2259 0.6000 Uncertain 15_52628489_T->C 15 52628489 52628489 T C snp 396.77 1/1 30 12 0 12 1.0 intronic rs8035295 MYO5A AR NM_000259 exon9 c.22767-170T>C 0.917133 0.9206 Uncertain 15_52638972_A->T 15 52638972 52638972 A T snp 56.74 1/1 6 2 0 2 1.0 intronic rs12593477 MYO5A AR NM_000259 exon12 c.32766+314A>T 0.289337 0.5605 Uncertain 15_52640990_-->A 15 52640990 52640990 - A indel 308.73 1/1 45 17 0 17 1.0 intronic rs11386962 MYO5A AR NM_000259 exon13 c.35122-24insA 0.626597 0.754 0.5370 0.5672 Uncertain 15_52662670_T->C 15 52662670 52662670 T C snp 243.8 1/1 21 7 0 7 1.0 intronic rs2290335 MYO5A AR NM_000259 exon20 c.56722+56T>C 0.323682 0.5694 Uncertain 15_52667552_G->A 15 52667552 52667552 G A snp 3616.77 1/1 99 131 0 131 1.0 exonic rs2414145 MYO5A AR synonymous SNV NM_000259 exon20 c.C2526T p.I842I 0.844649 0.9633 0.875497 0.9518 0.9735 Uncertain 15_52667735_T->C 15 52667735 52667735 T C snp 658.77 1/1 51 19 0 19 1.0 intronic rs2290336 MYO5A AR NM_000259 exon22 c.61765+78T>C 0.322883 0.5694 Uncertain 15_52675261_T->C 15 52675261 52675261 T C snp 4079.77 1/1 99 154 0 154 1.0 intronic rs4774621 MYO5A AR NM_000259 exon26 c.69395-26T>C 0.846446 0.9633 0.880060 0.9526 0.9735 Uncertain 15_52681377_T->C 15 52681377 52681377 T C snp 684.77 1/1 51 22 0 22 1.0 intronic rs1405184 MYO5A AR NM_000259 exon29 c.75542-57T>C 0.350439 0.5694 Uncertain 15_52681573_A->G 15 52681573 52681573 A G snp 2114.77 1/1 99 80 0 80 1.0 intronic rs1724623 MYO5A AR NM_000259 exon29 c.75668+13A>G 0.96246 1 0.9688 0.9827 Uncertain 15_52684004_C->A 15 52684004 52684004 C A snp 1526.77 1/1 99 50 0 50 1.0 intronic rs1669872 MYO5A AR NM_000259 exon30 c.78234-122C>A 0.811502 0.9623 Uncertain 15_52689526_T->C 15 52689526 52689526 T C snp 4568.77 1/1 99 159 0 159 1.0 exonic rs2924130 MYO5A AR synonymous SNV NM_000259 exon10 c.A1191G p.T397T 0.961661 1 0.962960 0.9896 1 Uncertain 15_52689631_T->G 15 52689631 52689631 T G snp 2869.77 1/1 99 98 0 98 1.0 exonic rs1724577 MYO5A AR nonsynonymous SNV NM_000259 exon10 c.A1086C p.E362D 0.886781 0.9802 0.909993 0.9629 0.9824 0.81 T 0.000 P -0.933 T 0.0 T 0.002 T Pathogenic 15_52708189_C->T 15 52708189 52708189 C T snp 258.8 1/1 21 8 0 8 1.0 intronic rs1669858 MYO5A AR NM_000259 exon37 c.102449-152C>T 0.627196 0.8462 Uncertain 15_52720908_G->T 15 52720908 52720908 G T snp 135.03 1/1 12 4 0 4 1.0 intronic rs1526169 MYO5A AR NM_000259 exon39 c.114874+142G>T 0.479233 0.6677 Uncertain 15_52892478_T->- 15 52892478 52892478 T - indel 638.73 1/1 66 31 0 31 1.0 intronic rs35694811 FAM214A AU NM_019600 exon5 c.18082+46delT 0.433307 0.8492 0.3143 0.8556 Uncertain 15_52893146_C->T 15 52893146 52893146 C T snp 185.9 1/1 15 6 0 6 1.0 intronic rs17708301 FAM214A AU NM_019600 exon6 c.18932-136C>T 0.175519 0.371 Uncertain 15_52901283_T->C 15 52901283 52901283 T C snp 2230.77 1/1 99 84 0 84 1.0 exonic rs61731670 FAM214A AU nonsynonymous SNV NM_001286495 exon5 c.A1849G p.T617A 0.430711 0.8482 0.216810 0.2650 0.8607 0.29 T 0.0 P -1.028 T 0.002 T 0.01 T Pathogenic 15_52901284_T->C 15 52901284 52901284 T C snp 2257.77 1/1 99 84 0 84 1.0 exonic rs58018557 FAM214A AU synonymous SNV NM_001286495 exon5 c.A1848G p.S616S 0.49361 0.8869 0.267884 0.2873 0.8922 Uncertain 15_53072734_C->T 15 53072734 53072734 C T snp 961.77 0/1 99 84 48 36 0.43 intronic rs79402245 ONECUT1 AU NM_004498 exon2 c.31225-8242C>T 0.0283546 0.1032 Uncertain 15_53081221_C->A 15 53081221 53081221 C A snp 2618.77 0/1 99 239 129 110 0.46 exonic rs2075613 ONECUT1 AU synonymous SNV NM_004498 exon1 c.G861T p.G287G 0.0283546 0.1032 0.003546 0.0198 0.1204 Uncertain 15_53081679_GGTGGTGGTGGTGAT->- 15 53081679 53081693 GGTGGTGGTGGTGAT - indel 5081.73 0/1 99 97 48 49 0.51 exonic rs750522342 ONECUT1 AU nonframeshift deletion NM_004498 exon1 c.389_403del p.130_135del 0.008228 6.741e-05 0.0001 Uncertain 15_53230662_C->T 15 53230662 53230662 C T snp 603.77 0/1 99 45 19 26 0.58 intergenic rs12050508 ONECUT1 AU 0.270767 0.3651 0.302581 0.3581 0.3533 Uncertain 15_53815527_-->AGAGAGAGAG 15 53815527 53815527 - AGAGAGAGAG indel 1789.73 0/1 99 76 25 51 0.67 intronic rs139512794 WDR72 AR NM_001277176 exon2 c.5624+8insAGAGAGAGAG 0.0012 0.0160 Uncertain 15_53901935_T->C 15 53901935 53901935 T C snp 153.77 0/1 99 9 4 5 0.56 intronic rs62005936 WDR72 AR NM_182758 exon4 c.91894+146T>C 0.188498 0.4306 Uncertain 15_53905729_T->C 15 53905729 53905729 T C snp 154.77 0/1 99 14 7 7 0.5 intronic rs62005937 WDR72 AR NM_182758 exon5 c.95967-133T>C 0.394569 0.1915 Uncertain 15_53905779_C->T 15 53905779 53905779 C T snp 431.77 0/1 99 39 20 19 0.49 intronic rs35292476 WDR72 AR NM_182758 exon5 c.95967-83C>T 0.394369 0.1915 Uncertain 15_53905821_A->- 15 53905821 53905821 A - indel 686.73 0/1 99 58 27 31 0.53 intronic rs34829468 WDR72 AR NM_182758 exon5 c.95967-41delA 0.395367 0.1935 0.4694 0.2253 Uncertain 15_53907948_G->A 15 53907948 53907948 G A snp 2764.77 0/1 99 223 109 114 0.51 exonic rs17730281 WDR72 AR nonsynonymous SNV NM_182758 exon15 c.C2455T p.L819F 0.266973 0.4851 0.199507 0.2549 0.4585 0 D 0.998 P -0.875 T 0.999 D 0.96 D Pathogenic 15_53994493_A->G 15 53994493 53994493 A G snp 1451.77 0/1 99 151 81 70 0.46 exonic rs6416452 WDR72 AR synonymous SNV NM_182758 exon12 c.T1407C p.Y469Y 0.639776 0.8016 0.562895 0.5792 0.8065 Uncertain 15_53997089_C->A 15 53997089 53997089 C A snp 322.77 0/1 99 20 10 10 0.5 intronic rs578595 WDR72 AR NM_182758 exon10 c.187289-95C>A 0.345447 0.2054 Uncertain 15_53998314_G->T 15 53998314 53998314 G T snp 1576.77 1/1 99 50 0 50 1.0 intronic rs690235 WDR72 AR NM_182758 exon11 c.188376+43G>T 0.95028 1 0.951936 0.9862 1 Uncertain 15_54002939_T->C 15 54002939 54002939 T C snp 249.77 0/1 99 18 8 10 0.56 intronic rs552960 WDR72 AR NM_182758 exon12 c.193158-114T>C 0.444489 0.2411 Uncertain 15_54003091_G->A 15 54003091 54003091 G A snp 2504.77 0/1 99 220 113 107 0.49 exonic rs551225 WDR72 AR nonsynonymous SNV NM_182758 exon9 c.C917T p.P306L 0.320887 0.2014 0.404887 0.4113 0.1973 0.04 T 1.000 P -0.868 T 1.0 D 0.984 D Pathogenic 15_54005244_T->A 15 54005244 54005244 T A snp 592.77 0/1 99 30 8 22 0.73 intronic rs2459380 WDR72 AR NM_182758 exon14 c.195193+156T>A 0.31869 0.2014 Uncertain 15_54008795_T->C 15 54008795 54008795 T C snp 2088.77 0/1 99 235 133 102 0.43 intronic rs690337 WDR72 AR NM_182758 exon17 c.198908-8T>C 0.749201 0.7302 0.757977 0.7469 0.7364 Uncertain 15_54008845_T->C 15 54008845 54008845 T C snp 5844.77 1/1 99 218 0 218 1.0 exonic rs690346 WDR72 AR nonsynonymous SNV NM_182758 exon4 c.A298G p.M100V 0.959465 1 0.959380 0.9882 1 0.88 T 0.000 P -0.974 T 0.0 T 0.0 T Pathogenic 15_54306925_G->A 15 54306925 54306925 G A snp 4430.77 1/1 99 153 0 153 1.0 exonic rs12437941 UNC13C AU nonsynonymous SNV NM_001080534 exon1 c.G1825A p.G609S 0.983227 1 0.984785 0.9954 1 0.69 T 0.0 P -0.967 T 0.0 T 0.0 T Pathogenic 15_54435446_G->C 15 54435446 54435446 G C snp 239.77 0/1 99 12 4 8 0.67 intronic rs1897069 UNC13C AU NM_001080534 exon2 c.130137+209G>C 0.289936 0.3621 Uncertain 15_54528602_T->C 15 54528602 54528602 T C snp 222.77 0/1 99 18 10 8 0.44 intronic rs76780149 UNC13C AU NM_001080534 exon5 c.224714-1212T>C 0.0215655 0.0625 0.000085 0.0081 0.0590 Uncertain 15_54529560_A->T 15 54529560 54529560 A T snp 92.77 0/1 99 14 10 4 0.29 intronic rs7183052 UNC13C AU NM_001080534 exon5 c.224714-254A>T 0.47524 0.2321 Uncertain 15_54529629_T->C 15 54529629 54529629 T C snp 850.77 0/1 99 67 37 30 0.45 intronic rs7162346 UNC13C AU NM_001080534 exon5 c.224714-185T>C 0.475639 0.2321 Uncertain 15_54556259_A->G 15 54556259 54556259 A G snp 723.77 0/1 99 65 35 30 0.46 intronic rs12917364 UNC13C AU NM_001080534 exon7 c.251265-106A>G 0.382588 0.1696 Uncertain 15_54685448_G->A 15 54685448 54685448 G A snp 1701.77 1/1 99 50 0 50 1.0 intronic rs73417774 UNC13C AU NM_001080534 exon16 c.380279+69G>A 0.318291 0.6468 Uncertain 15_54685463_G->A 15 54685463 54685463 G A snp 1224.77 1/1 90 35 0 35 1.0 intronic rs489526 UNC13C AU NM_001080534 exon16 c.380279+84G>A 0.678315 0.7778 Uncertain 15_54792428_A->G 15 54792428 54792428 A G snp 965.77 1/1 30 37 2 35 0.95 intronic rs8025195 UNC13C AU NM_001080534 exon19 c.487273+55A>G 0.583866 0.7212 Uncertain 15_54804749_T->A 15 54804749 54804749 T A snp 1108.77 0/1 99 82 41 41 0.5 intronic rs550129018 UNC13C AU NM_001080534 exon22 c.498928+721T>A 0.000998403 0.005 Uncertain 15_54914716_C->T 15 54914716 54914716 C T snp 286.77 0/1 99 20 11 9 0.45 intronic rs2681964 UNC13C AU NM_001080534 exon29 c.609517+99C>T 0.794329 0.6885 Uncertain 15_54915975_A->T 15 54915975 54915975 A T snp 1857.77 0/1 99 132 57 75 0.57 intronic rs2414332 UNC13C AU NM_001080534 exon30 c.610892-17A>T 0.580072 0.6587 0.590122 0.6472 0.6806 Uncertain 15_54918911_T->C 15 54918911 54918911 T C snp 339.77 0/1 99 28 17 11 0.39 intronic rs11856235 UNC13C AU NM_001080534 exon31 c.613925-114T>C 0.539936 0.6101 Uncertain 15_54918943_G->A 15 54918943 54918943 G A snp 794.77 0/1 99 72 46 26 0.36 intronic rs11852743 UNC13C AU NM_001080534 exon31 c.613925-82G>A 0.547324 0.6657 Uncertain 15_54919047_A->G 15 54919047 54919047 A G snp 2844.77 0/1 99 250 140 110 0.44 exonic rs1520411 UNC13C AU synonymous SNV NM_001080534 exon31 c.A6381G p.R2127R 0.547125 0.6657 0.565353 0.6174 0.6648 Uncertain 15_55611433_A->G 15 55611433 55611433 A G snp 1671.77 0/1 99 110 48 62 0.56 UTR5 rs28668016 PIGB AU 0.326078 0.5655 0.194837 0.3166 0.6090 Uncertain 15_55619796_T->C 15 55619796 55619796 T C snp 1025.77 0/1 99 114 67 47 0.41 exonic rs2290344 PIGB AU nonsynonymous SNV NM_004855 exon4 c.T485C p.M162T 0.230032 0.5635 0.086778 0.1726 0.5710 0.38 T 1.000 P -0.932 T 0.0 T 0.002 T Pathogenic 15_55619808_A->G 15 55619808 55619808 A G snp 1110.77 0/1 99 117 68 49 0.42 exonic rs572451239 PIGB AU nonsynonymous SNV NM_004855 exon4 c.A497G p.E166G 0.00379393 0.0188 0.0006 0.0076 0.22 T 1 D -0.853 T 0.319 T 0.223 T Pathogenic 15_55621889_T->C 15 55621889 55621889 T C snp 1758.77 0/1 99 108 35 73 0.68 intronic rs28459661 PIGB AU NM_004855 exon5 c.10473-32T>C 0.608227 0.7619 0.473957 0.4199 0.7552 Uncertain 15_55625933_C->A 15 55625933 55625933 C A snp 102.77 0/1 99 11 6 5 0.45 intronic rs569333 PIGB AU NM_004855 exon6 c.14616-131C>A 0.607827 0.7619 Uncertain 15_55632859_G->T 15 55632859 55632859 G T snp 1155.77 0/1 99 80 36 44 0.55 exonic rs678892 PIGB AU nonsynonymous SNV NM_004855 exon8 c.G896T p.W299L 0.601238 0.7639 0.467113 0.4227 0.7589 0.51 T 1.0 P -0.937 T 0.0 T 0.0 T Pathogenic 15_55710369_T->A 15 55710369 55710369 T A snp 2630.77 1/1 99 88 0 88 1.0 ncRNA_intronic rs6493785 DYX1C1-CCPG1 AU 0.995008 1 0.994295 0.9985 1 Uncertain 15_55759193_T->C 15 55759193 55759193 T C snp 1103.77 1/1 81 38 0 38 1.0 exonic rs600753 DYX1C1 AR,AD nonsynonymous SNV NM_130810 exon5 c.A572G p.E191G 0.528355 0.746 0.451493 0.5838 0.7745 0.12 T 0.193 P -0.947 T 0.061 T 0.066 T Pathogenic 15_55840995_A->G 15 55840995 55840995 A G snp 1373.77 1/1 99 48 0 48 1.0 intronic rs2617227 PYGO1 AU NM_015617 exon2 c.2887-112A>G 0.952476 0.871 Uncertain 15_55841012_A->C 15 55841012 55841012 A C snp 1029.77 0/1 99 65 25 40 0.62 intronic rs75367053 PYGO1 AU NM_015617 exon2 c.2887-95A>C 0.0263578 0.0506 Uncertain 15_55841032_A->G 15 55841032 55841032 A G snp 729.77 0/1 99 89 51 38 0.43 intronic rs12917202 PYGO1 AU NM_015617 exon2 c.2887-75A>G 0.358826 0.3433 Uncertain 15_55881107_C->T 15 55881107 55881107 C T snp 2208.77 1/1 99 83 0 83 1.0 upstream rs1992237 PYGO1 AU 0.517772 0.9752 0.299558 Uncertain 15_55881111_A->G 15 55881111 55881111 A G snp 2142.77 1/1 99 82 0 82 1.0 upstream rs1992236 PYGO1 AU 0.794129 0.9891 0.771523 Uncertain 15_55912198_C->T 15 55912198 55912198 C T snp 831.77 0/1 99 57 26 31 0.54 UTR3 rs370231526 PRTG AU 9.208e-05 0.0013 Uncertain 15_55921013_T->C 15 55921013 55921013 T C snp 2704.77 1/1 99 92 1 91 0.99 intronic rs7165971 PRTG AU NM_173814 exon5 c.8810-6T>C 0.432109 0.9554 0.233575 0.3835 0.9506 Uncertain 15_55933199_G->T 15 55933199 55933199 G T snp 2251.77 1/1 99 72 0 72 1.0 intronic rs1550326 PRTG AU NM_173814 exon9 c.21101-111G>T 0.513978 0.9663 Uncertain 15_55967916_T->C 15 55967916 55967916 T C snp 958.77 1/1 72 27 0 27 1.0 intronic rs2118781 PRTG AU NM_173814 exon12 c.55672+35T>C 0.286342 0.4058 0.187724 0.1796 0.4189 Uncertain 15_55970041_A->G 15 55970041 55970041 A G snp 6577.77 1/1 99 249 1 248 1.0 exonic rs11854213 PRTG AU synonymous SNV NM_173814 exon8 c.T1335C p.N445N 0.241613 0.4038 0.152141 0.1589 0.4136 Uncertain 15_55972515_A->G 15 55972515 55972515 A G snp 499.77 1/1 39 13 0 13 1.0 intronic rs576456 PRTG AU NM_173814 exon15 c.60201+105A>G 0.970847 1 Uncertain 15_55972797_T->C 15 55972797 55972797 T C snp 1535.77 0/1 99 167 92 75 0.45 exonic rs16976466 PRTG AU nonsynonymous SNV NM_173814 exon5 c.A706G p.T236A 0.221845 0.3214 0.153730 0.1505 0.3272 0.62 T 0.000 P -1.036 T 0.0 T 0.001 T Pathogenic 15_55974746_A->T 15 55974746 55974746 A T snp 248.77 0/1 99 22 12 10 0.45 intronic rs550226 PRTG AU NM_173814 exon17 c.62486+51A>T 0.289137 0.5149 0.137976 0.3250 0.3593 Uncertain 15_56030443_G->A 15 56030443 56030443 G A snp 41.77 0/1 68 4 2 2 0.5 intronic rs2414430 PRTG AU NM_173814 exon19 c.120370-2136G>A 0.176318 0.3552 Uncertain 15_56030846_T->G 15 56030846 56030846 T G snp 110.77 0/1 99 8 4 4 0.5 intronic rs2414431 PRTG AU NM_173814 exon19 c.120370-1733T>G 0.177316 0.3661 Uncertain 15_56032975_G->A 15 56032975 56032975 G A snp 294.77 0/1 99 22 11 11 0.5 intronic rs7182733 PRTG AU NM_173814 exon19 c.120673+93G>A 0.390775 0.3611 Uncertain 15_56122347_T->G 15 56122347 56122347 T G snp 580.77 0/1 99 38 18 20 0.53 intronic rs2288344 NEDD4 AU NM_006154 exon1 c.103+150T>G 0.348043 0.3185 Uncertain 15_56122461_T->C 15 56122461 56122461 T C snp 41.77 0/1 66 4 2 2 0.5 intronic rs2288345 NEDD4 AU NM_006154 exon2 c.617-250T>C 0.383187 0.3224 Uncertain 15_56122664_T->C 15 56122664 56122664 T C snp 1901.77 0/1 99 168 83 85 0.51 intronic rs12910830 NEDD4 AU NM_006154 exon2 c.617-47T>C 0.383786 0.3224 0.395759 0.4105 0.2966 Uncertain 15_56122741_A->C 15 56122741 56122741 A C snp 1552.77 0/1 99 136 68 68 0.5 exonic rs17238461 NEDD4 AU synonymous SNV NM_198400 exon21 c.T3612G p.T1204T 0.0770767 0.0675 0.096453 0.0932 0.0912 1.000 P -1.046 T Likely benign 15_56125135_C->A 15 56125135 56125135 C A snp 1324.77 0/1 99 77 24 53 0.69 intronic rs8024944 NEDD4 AU NM_006154 exon3 c.3111-70C>A 0.342252 0.3185 Uncertain 15_56125182_T->A 15 56125182 56125182 T A snp 1696.77 0/1 99 107 37 70 0.65 intronic rs8026172 NEDD4 AU NM_006154 exon3 c.3111-23T>A 0.342252 0.3185 0.312722 0.3348 0.2920 Uncertain 15_56130286_A->T 15 56130286 56130286 A T snp 404.77 1/1 30 15 0 15 1.0 intronic rs11071227 NEDD4 AU NM_006154 exon7 c.8210-18A>T 0.913738 0.9683 0.926239 0.9149 0.9603 Uncertain 15_56130633_T->C 15 56130633 56130633 T C snp 472.77 0/1 99 45 25 20 0.44 intronic rs62046644 NEDD4 AU NM_006154 exon8 c.8612-73T>C 0.0776757 0.0675 Uncertain 15_56130692_T->C 15 56130692 56130692 T C snp 1015.77 0/1 99 103 58 45 0.44 intronic rs62046645 NEDD4 AU NM_006154 exon8 c.8612-14T>C 0.0776757 0.0675 0.096931 0.0952 0.0924 Uncertain 15_56139153_T->C 15 56139153 56139153 T C snp 844.77 1/1 60 32 0 32 1.0 intronic rs2288346 NEDD4 AU NM_006154 exon12 c.17072-13T>C 0.890375 0.9653 0.884319 0.8960 0.9583 Uncertain 15_56140995_T->A 15 56140995 56140995 T A snp 1558.77 0/1 99 157 80 77 0.49 intronic rs12232351 NEDD4 AU NM_006154 exon15 c.18909-8T>A 0.317492 0.2937 0.303624 0.3294 0.2774 Uncertain 15_56144848_C->T 15 56144848 56144848 C T snp 664.77 0/1 99 36 13 23 0.64 intronic rs62043760 NEDD4 AU NM_006154 exon17 c.22647+107C>T 0.0746805 0.0665 Uncertain 15_56152598_A->G 15 56152598 56152598 A G snp 2482.77 1/1 99 90 2 88 0.98 intronic rs4774228 NEDD4 AU NM_006154 exon19 c.30510-6A>G 0.976438 1 0.973092 0.9928 0.9998 Uncertain 15_56152729_T->C 15 56152729 56152729 T C snp 5637.77 1/1 99 187 1 186 0.99 exonic rs2303579 NEDD4 AU nonsynonymous SNV NM_198400 exon4 c.A1877G p.N626S 0.67472 0.5972 0.733847 0.7415 0.5853 1 T 0.0 P -1.025 T 0.001 T 0.002 T Pathogenic 15_56152872_C->T 15 56152872 56152872 C T snp 7118.77 1/1 99 250 0 250 1.0 exonic rs2303580 NEDD4 AU nonsynonymous SNV NM_198400 exon3 c.G1820A p.R607Q 0.673922 0.5962 0.733924 0.7413 0.5850 0.28 T 0.754 P -0.921 T 0.744 T 0.115 P Pathogenic 15_56161919_C->T 15 56161919 56161919 C T snp 381.77 0/1 99 44 25 19 0.43 intronic rs1912402 NEDD4 AU NM_006154 exon22 c.39785+40C>T 0.341254 0.2927 0.295911 0.3569 0.2892 Uncertain 15_56164876_T->C 15 56164876 56164876 T C snp 99.28 1/1 9 3 0 3 1.0 intronic rs1912407 NEDD4 AU NM_006154 exon23 c.42580+202T>C 0.680911 0.6002 Uncertain 15_56207983_C->T 15 56207983 56207983 C T snp 3105.77 0/1 99 250 128 122 0.49 exonic rs7174459 NEDD4 AU synonymous SNV NM_001284338 exon1 c.G1047A p.S349S 0.179912 0.1032 0.233910 0.2581 0.1355 Uncertain 15_56216793_C->T 15 56216793 56216793 C T snp 843.77 0/1 99 61 26 35 0.57 intronic rs2271289 NEDD4 AU NM_006154 exon25 c.94749-50C>T 0.326877 0.4256 0.311612 Uncertain 15_56258809_A->T 15 56258809 56258809 A T snp 82.77 0/1 99 7 3 4 0.57 intronic rs6493829 NEDD4 AU NM_006154 exon28 c.136650+65A>T Uncertain 15_56297909_C->T 15 56297909 56297909 C T snp 200.77 0/1 99 106 84 22 0.21 intergenic rs3959682 NEDD4 AU Uncertain 15_56386577_T->G 15 56386577 56386577 T G snp 5555.77 1/1 99 198 1 197 0.99 exonic rs7170589 RFX7 AU nonsynonymous SNV NM_022841 exon9 c.A3349C p.N1117H 1 1 0.999919 1 1 1 T 0.000 P -0.916 T 0.0 T 0.0 T Pathogenic 15_56387859_T->C 15 56387859 56387859 T C snp 3186.77 0/1 99 250 132 118 0.47 exonic rs3803459 RFX7 AU synonymous SNV NM_022841 exon9 c.A2067G p.K689K 0.227636 0.494 0.115544 0.1698 0.4390 Uncertain 15_56387931_C->T 15 56387931 56387931 C T snp 8090.77 1/1 99 249 0 249 1.0 exonic rs11071247 RFX7 AU synonymous SNV NM_022841 exon9 c.G1995A p.Q665Q 0.96246 1 0.962446 0.9899 1 Uncertain 15_56388033_T->C 15 56388033 56388033 T C snp 3009.77 0/1 99 250 139 111 0.44 exonic rs12439907 RFX7 AU synonymous SNV NM_022841 exon9 c.A1893G p.L631L 0.272364 0.5 0.177922 0.2412 0.4421 Uncertain 15_56390186_T->C 15 56390186 56390186 T C snp 96.77 0/1 99 14 8 6 0.43 intronic rs4363812 RFX7 AU NM_022841 exon2 c.4736-92T>C 0.270567 0.4931 Uncertain 15_56434956_A->G 15 56434956 56434956 A G snp 618.77 0/1 99 51 27 24 0.47 intronic rs1550586 RFX7 AU NM_022841 exon6 c.49433-19A>G 0.221046 0.4742 0.117266 0.1730 0.4145 Uncertain 15_56471449_T->G 15 56471449 56471449 T G snp 638.77 0/1 99 47 17 30 0.64 intronic rs11637789 RFX7 AU NM_022841 exon8 c.85925-18T>G 0.267173 0.4841 0.183808 0.3182 0.4921 Uncertain 15_56535174_A->G 15 56535174 56535174 A G snp 556.77 1/1 42 17 0 17 1.0 intronic rs2460649 RFX7 AU NM_022841 exon9 c.149780-148A>G 0.60603 0.8442 Uncertain 15_56657581_A->C 15 56657581 56657581 A C snp 1228.77 1/1 93 37 0 37 1.0 upstream rs2682033 TEX9 AU 0.999201 1 0.998896 Uncertain 15_56665554_G->A 15 56665554 56665554 G A snp 145.77 0/1 99 21 13 8 0.38 intronic rs2682037 TEX9 AU NM_198524 exon3 c.7990-84G>A 0.0579073 0.0863 Uncertain 15_56676035_T->C 15 56676035 56676035 T C snp 31.77 0/1 60 8 6 2 0.25 intronic rs28756289 TEX9 AU NM_198524 exon4 c.18501-114T>C 0.0585064 0.0893 Uncertain 15_56680865_G->A 15 56680865 56680865 G A snp 1045.77 1/1 75 37 0 37 1.0 intronic rs16976890 TEX9 AU NM_001286449 exon5 c.4527+147G>A 0.519768 0.6002 Uncertain 15_56680944_T->C 15 56680944 56680944 T C snp 297.78 1/1 24 9 0 9 1.0 intronic rs1477589 TEX9 AU NM_001286449 exon5 c.4527+226T>C 0.999201 1 Uncertain 15_56681498_T->C 15 56681498 56681498 T C snp 747.77 0/1 99 65 29 36 0.55 intronic rs28369022 TEX9 AU NM_001286449 exon6 c.5324-17T>C 0.0583067 0.0883 0.028862 0.0247 0.1030 Uncertain 15_56687065_C->T 15 56687065 56687065 C T snp 289.77 0/1 99 38 23 15 0.39 intronic rs16976896 TEX9 AU NM_001286449 exon9 c.10841+33C>T 0.0585064 0.0893 0.027709 0.0258 0.1119 Uncertain 15_56719785_T->C 15 56719785 56719785 T C snp 492.77 1/1 36 21 0 21 1.0 intronic rs795784 TEX9 AU NM_001286449 exon11 c.43611-17T>C 0.219249 0.4802 0.053611 0.1180 0.4551 Uncertain 15_56719797_G->T 15 56719797 56719797 G T snp 570.77 1/1 42 24 0 24 1.0 splicing rs795785 TEX9 AU NM_001286449 exon11 c.43611-5G>T 0.946685 0.9266 0.919141 0.9218 0.9216 Pathogenic 15_56721264_G->A 15 56721264 56721264 G A snp 2266.77 1/1 99 86 0 86 1.0 UTR3 rs795787 MNS1 AU 0.999201 1 0.998456 0.9993 1 Uncertain 15_56721406_C->T 15 56721406 56721406 C T snp 1474.77 1/1 99 49 0 49 1.0 intronic rs808730 MNS1 AU NM_018365 exon1 c.93+15C>T 0.999201 1 0.998456 0.9986 1 Uncertain 15_56739235_AA->- 15 56739235 56739236 AA - indel 375.73 0/1 99 15 5 10 0.67 intronic rs75441720 MNS1 AU NM_018365 exon7 c.17843+94_17843+95delAA 0.159145 0.3849 Uncertain 15_56923536_A->G 15 56923536 56923536 A G snp 1083.77 1/1 81 32 0 32 1.0 UTR3 rs3803457 ZNF280D AU 0.44349 0.6161 Uncertain 15_56923714_G->A 15 56923714 56923714 G A snp 7514.77 1/1 99 250 0 250 1.0 exonic rs8043381 ZNF280D AU synonymous SNV NM_001002843 exon21 c.C2883T p.D961D 0.989217 1 0.986043 0.9965 1 Uncertain 15_56946296_C->A 15 56946296 56946296 C A snp 443.77 1/1 33 14 0 14 1.0 intronic rs8028457 ZNF280D AU NM_001288588 exon4 c.22700-99C>A 0.925519 0.997 Uncertain 15_56946980_T->G 15 56946980 56946980 T G snp 7007.77 1/1 99 250 0 250 1.0 intronic rs12911381 ZNF280D AU NM_001288588 exon5 c.23006+279T>G 0.473243 0.6151 0.5616 0.6731 Uncertain 15_56961181_G->A 15 56961181 56961181 G A snp 173.77 0/1 99 26 19 7 0.27 intronic rs142653459 ZNF280D AU NM_001288588 exon9 c.37460+26G>A 0.00559105 0.0278 0.0017 0.0241 Uncertain 15_56961272_T->A 15 56961272 56961272 T A snp 53.74 1/1 6 3 0 3 1.0 intronic rs12911191 ZNF280D AU NM_001288588 exon9 c.37460+117T>A 0.460863 0.5972 Uncertain 15_56968865_C->T 15 56968865 56968865 C T snp 894.77 0/1 99 69 30 39 0.57 splicing rs77349546 ZNF280D AU NM_001288588 exon10 c.45172-2C>T 0.0483227 0.1895 0.000154 0.0180 0.1801 Pathogenic 15_56981703_T->A 15 56981703 56981703 T A snp 139.03 1/1 12 5 0 5 1.0 intronic rs1871861 ZNF280D AU NM_001288588 exon15 c.57973+35T>A 0.989217 1 0.988536 0.9961 1 Uncertain 15_56992844_A->G 15 56992844 56992844 A G snp 928.77 1/1 72 26 0 26 1.0 UTR3 rs3816752 ZNF280D AU 0.51877 0.6101 Uncertain 15_57210297_G->A 15 57210297 57210297 G A snp 381.77 0/1 99 39 23 16 0.41 ncRNA_exonic rs3803455 LOC145783 AU 0.367212 0.3621 Uncertain 15_57210562_C->A 15 57210562 57210562 C A snp 1628.77 0/1 99 126 58 68 0.54 ncRNA_exonic rs213150 LOC145783 AU 0.792931 0.6736 0.9066 0.6395 Uncertain 15_57210627_G->C 15 57210627 57210627 G C snp 1006.77 0/1 99 61 23 38 0.62 ncRNA_exonic rs2165461 LOC145783 AU 0.366214 0.3621 Uncertain 15_57213283_A->G 15 57213283 57213283 A G snp 1044.77 0/1 99 104 57 47 0.45 exonic rs35615435 TCF12 AD synonymous SNV NM_207036 exon3 c.A135G p.Q45Q 0.0922524 0.2857 0.021823 0.0393 0.3007 Uncertain 15_57364814_G->A 15 57364814 57364814 G A snp 479.77 0/1 99 41 21 20 0.49 intronic rs2951904 TCF12 AD NM_207038 exon4 c.143910+8793G>A 0.52516 0.4117 0.5297 0.3810 Uncertain 15_57484316_C->T 15 57484316 57484316 C T snp 393.77 0/1 99 28 14 14 0.5 intronic rs80000995 TCF12 AD NM_207038 exon7 c.272244-39C>T 0.109026 0.2391 0.045342 0.0441 0.2630 Uncertain 15_57484613_G->A 15 57484613 57484613 G A snp 736.77 0/1 99 57 26 31 0.54 intronic rs12914481 TCF12 AD NM_207038 exon7 c.272380+122G>A 0.318291 0.3621 Uncertain 15_57523542_A->G 15 57523542 57523542 A G snp 1864.77 0/1 99 126 57 69 0.55 intronic rs1037958 TCF12 AD NM_207040 exon2 c.11736+87A>G 0.320288 0.3671 Uncertain 15_57523564_T->- 15 57523564 57523564 T - indel 914.73 0/1 99 77 30 47 0.61 intronic rs3838866 TCF12 AD NM_207040 exon2 c.11736+109delT 0.57488 0.6339 Uncertain 15_57524756_G->A 15 57524756 57524756 G A snp 2023.77 1/1 99 61 0 61 1.0 intronic rs2248620 TCF12 AD NM_207040 exon3 c.12909+128G>A 0.830272 0.8125 Uncertain 15_57524857_T->C 15 57524857 57524857 T C snp 1224.77 0/1 99 87 34 53 0.61 intronic rs2290938 TCF12 AD NM_207040 exon4 c.13190-52T>C 0.320487 0.3671 Uncertain 15_57545292_A->G 15 57545292 57545292 A G snp 194.77 0/1 61 9 3 6 0.67 intronic rs11853810 TCF12 AD NM_207040 exon8 c.33740-167A>G 0.358626 0.4395 Uncertain 15_57555523_C->A 15 57555523 57555523 C A snp 1814.77 1/1 99 59 0 59 1.0 intronic rs7182038 TCF12 AD NM_207040 exon10 c.43753+51C>A 0.805112 0.8194 0.779237 0.7885 0.8265 Uncertain 15_57731335_A->C 15 57731335 57731335 A C snp 7322.77 1/1 99 249 1 248 1.0 exonic rs1280395 CGNL1 AU nonsynonymous SNV NM_032866 exon2 c.A1138C p.T380P 0.994609 1 0.993677 0.9986 1 1 T 0.000 P -0.941 T 0.0 T 0.0 T Pathogenic 15_57731728_A->G 15 57731728 57731728 A G snp 1399.77 1/1 99 49 0 49 1.0 exonic rs1280396 CGNL1 AU nonsynonymous SNV NM_032866 exon2 c.A1531G p.T511A 0.862021 0.8472 0.847162 0.8463 0.8350 0.88 T 0.0 P -1.007 T 0.0 T 0.0 T Pathogenic 15_57732743_T->C 15 57732743 57732743 T C snp 4210.77 1/1 99 157 0 157 1.0 intronic rs1280398 CGNL1 AU NM_001252335 exon4 c.2472+74T>C 0.697883 0.747 Uncertain 15_57732774_C->T 15 57732774 57732774 C T snp 3539.77 1/1 99 128 0 128 1.0 intronic rs17820299 CGNL1 AU NM_001252335 exon4 c.2472+105C>T 0.266773 0.375 Uncertain 15_57734382_A->G 15 57734382 57734382 A G snp 44.74 1/1 6 2 0 2 1.0 intronic CGNL1 AU NM_001252335 exon5 c.4373-188A>G Uncertain 15_57743893_A->G 15 57743893 57743893 A G snp 418.77 0/1 99 36 21 15 0.42 intronic rs28475445 CGNL1 AU NM_001252335 exon6 c.13602+94A>G 0.0704872 0.0585 Uncertain 15_57743933_A->G 15 57743933 57743933 A G snp 432.77 1/1 33 13 0 13 1.0 intronic rs1280406 CGNL1 AU NM_001252335 exon6 c.13602+134A>G 0.989417 1 Uncertain 15_57744311_T->A 15 57744311 57744311 T A snp 544.77 0/1 99 57 31 26 0.46 intronic rs1018269 CGNL1 AU NM_001252335 exon7 c.14141-27T>A 0.498203 0.504 0.451033 0.4653 0.4531 Uncertain 15_57744582_A->G 15 57744582 57744582 A G snp 274.77 0/1 99 18 5 13 0.72 intronic rs1018268 CGNL1 AU NM_001252335 exon7 c.14290+95A>G 0.42512 0.4286 Uncertain 15_57753867_C->A 15 57753867 57753867 C A snp 1149.77 0/1 99 111 56 55 0.5 intronic rs1511951 CGNL1 AU NM_001252335 exon9 c.23680-10C>A 0.137979 0.0764 0.182526 0.1682 0.0856 Uncertain 15_57810391_C->G 15 57810391 57810391 C G snp 429.77 1/1 33 11 0 11 1.0 intronic rs4625664 CGNL1 AU NM_001252335 exon11 c.80393-199C>G 0.519169 0.7083 Uncertain 15_57835787_C->G 15 57835787 57835787 C G snp 1045.77 0/1 99 87 46 41 0.47 intronic rs78039441 CGNL1 AU NM_001252335 exon16 c.105696-106C>G 0.00638978 0.0317 Uncertain 15_57836493_G->A 15 57836493 57836493 G A snp 264.8 1/1 21 7 0 7 1.0 intronic rs1625458 CGNL1 AU NM_001252335 exon17 c.106473-177G>A 0.703874 0.5893 Uncertain 15_57836823_G->A 15 57836823 57836823 G A snp 1053.77 1/1 75 38 0 38 1.0 intronic rs8029295 CGNL1 AU NM_001252335 exon17 c.106598+28G>A 0.998203 1 0.996647 0.9986 1 Uncertain 15_57837647_G->C 15 57837647 57837647 G C snp 307.78 1/1 24 9 0 9 1.0 intronic rs8034775 CGNL1 AU NM_001252335 exon18 c.107592-142G>C 0.652556 0.5883 Uncertain 15_57838222_G->A 15 57838222 57838222 G A snp 190.9 1/1 15 8 0 8 1.0 intronic rs8035822 CGNL1 AU NM_001252335 exon19 c.108076-51G>A 0.323283 0.377 0.206139 Uncertain 15_57838258_T->C 15 57838258 57838258 T C snp 409.77 1/1 30 17 0 17 1.0 intronic rs2635390 CGNL1 AU NM_001252335 exon19 c.108076-15T>C 0.656949 0.6032 0.687616 0.7151 0.6247 Uncertain 15_57884181_T->C 15 57884181 57884181 T C snp 409.77 1/1 30 16 0 16 1.0 UTR5 rs1690328 GCOM1 AU 0.795128 0.9137 Uncertain 15_57884219_A->G 15 57884219 57884219 A G snp 449.77 1/1 33 17 0 17 1.0 UTR5 rs2453089 GCOM1 AU 0.39996 0.5486 0.4106 0.6415 Uncertain 15_57896366_A->T 15 57896366 57896366 A T snp 373.77 1/1 30 10 0 10 1.0 intronic rs2172611 GCOM1 AU NM_001018091 exon2 c.12234-100A>T 0.452077 0.5486 Uncertain 15_57896658_C->A 15 57896658 57896658 C A snp 579.77 1/1 45 20 0 20 1.0 intronic rs2453091 GCOM1 AU NM_001018091 exon2 c.12321+105C>A 0.439896 0.5486 Uncertain 15_57910164_G->A 15 57910164 57910164 G A snp 717.77 1/1 54 20 0 20 1.0 intronic rs937254 GCOM1 AU NM_001018091 exon3 c.25998-66G>A 0.536142 0.5526 Uncertain 15_57910444_A->G 15 57910444 57910444 A G snp 4491.77 1/1 99 156 1 155 0.99 intronic rs935548 GCOM1 AU NM_001018091 exon3 c.26154+58A>G 0.976637 1 Uncertain 15_57917821_C->T 15 57917821 57917821 C T snp 1261.77 1/1 93 40 0 40 1.0 intronic rs2470360 GCOM1 AU NM_001018091 exon5 c.33744-155C>T 0.389377 0.5476 Uncertain 15_57918069_A->G 15 57918069 57918069 A G snp 3062.77 1/1 99 101 0 101 1.0 exonic rs2069133 GCOM1 AU synonymous SNV NM_001018090 exon5 c.A504G p.A168A 0.534545 0.5536 0.455352 0.4731 0.5855 Uncertain 15_57918090_A->G 15 57918090 57918090 A G snp 2267.77 1/1 99 72 0 72 1.0 splicing rs2958059 GCOM1 AU NM_001018091 exon5 c.33856+2A>G 1 1 1 1 Pathogenic 15_57924586_T->A 15 57924586 57924586 T A snp 1248.77 1/1 90 39 0 39 1.0 intronic rs2733593 GCOM1 AU NM_001018091 exon7 c.40399-45T>A 0.406749 0.5675 0.388418 0.4393 0.5870 Uncertain 15_57953564_C->T 15 57953564 57953564 C T snp 141.03 1/1 12 4 0 4 1.0 intronic rs986868 GCOM1 AU NM_001018091 exon11 c.69415-83C>T 0.678914 0.8631 Uncertain 15_57967219_T->C 15 57967219 57967219 T C snp 5361.77 1/1 99 200 0 200 1.0 exonic rs1991252 GCOM1 AU synonymous SNV NM_152451 exon11 c.T1173C p.T391T 1 1 0.999923 1.0000 1 Uncertain 15_57967286_T->- 15 57967286 57967286 T - indel 2978.73 1/1 99 130 1 129 0.99 intronic rs5812908 GCOM1 AU NM_001018091 exon12 c.83034+20delT 0.710863 0.9216 0.7781 0.9149 Uncertain 15_57976523_A->G 15 57976523 57976523 A G snp 1833.77 1/1 99 61 0 61 1.0 intronic rs6493944 GCOM1 AU NM_001018091 exon12 c.83034+9257A>G 0.850639 0.9623 Uncertain 15_57976583_A->C 15 57976583 57976583 A C snp 4389.77 1/1 99 164 0 164 1.0 intronic rs2554032 GCOM1 AU NM_001018091 exon12 c.83034+9317A>C 0.967851 1 0.966225 0.9905 1 Uncertain 15_57999326_C->T 15 57999326 57999326 C T snp 1255.77 0/1 99 141 88 53 0.38 intronic GCOM1 AU NM_001285900 exon13 c.116679-1585C>T Uncertain 15_58247563_C->G 15 58247563 58247563 C G snp 185.77 0/1 99 17 10 7 0.41 intronic rs4646640 ALDH1A2 AU NM_170697 exon1 c.73+96C>G 0.254792 0.1944 Uncertain 15_58253062_C->T 15 58253062 58253062 C T snp 2343.77 0/1 99 227 133 94 0.41 intronic rs3784263 ALDH1A2 AU NM_170697 exon2 c.5648+20C>T 0.305911 0.2083 0.423735 0.3757 0.1958 Uncertain 15_58253106_T->C 15 58253106 58253106 T C snp 1621.77 0/1 99 160 93 67 0.42 intronic rs3784262 ALDH1A2 AU NM_170697 exon2 c.5648+64T>C 0.266374 0.2103 0.403710 Uncertain 15_58253269_T->G 15 58253269 58253269 T G snp 1500.77 0/1 99 96 41 55 0.57 intronic rs3784260 ALDH1A2 AU NM_170697 exon3 c.5940-65T>G 0.294529 0.1974 Uncertain 15_58256127_C->T 15 58256127 58256127 C T snp 1004.77 0/1 99 84 45 39 0.46 exonic rs4646626 ALDH1A2 AU nonsynonymous SNV NM_003888 exon9 c.G1042A p.V348I 0.372804 0.3065 0.471931 0.4462 0.3138 0.55 T 0.0 P -0.926 T 0.011 T 0.005 T Pathogenic 15_58256296_C->T 15 58256296 58256296 C T snp 301.77 0/1 99 28 15 13 0.46 intronic rs4646625 ALDH1A2 AU NM_170697 exon5 c.8873+29C>T 0.371805 0.3046 0.471314 0.4481 0.3153 Uncertain 15_58257847_C->T 15 58257847 58257847 C T snp 762.77 0/1 99 60 26 34 0.57 intronic rs3784259 ALDH1A2 AU NM_170697 exon6 c.10528-75C>T 0.36901 0.3026 Uncertain 15_58465171_G->A 15 58465171 58465171 G A snp 587.77 0/1 99 52 27 25 0.48 intronic rs2292712 AQP9 AU NM_020980 exon3 c.34502-95G>A 0.816294 0.7887 Uncertain 15_58465483_C->T 15 58465483 58465483 C T snp 115.77 0/1 99 10 4 6 0.6 intronic rs2292713 AQP9 AU NM_020980 exon3 c.34640+79C>T 0.79353 0.8254 Uncertain 15_58471368_C->T 15 58471368 58471368 C T snp 791.77 0/1 99 82 45 37 0.45 exonic rs2249783 AQP9 AU synonymous SNV NM_020980 exon5 c.C537T p.I179I 0.836462 0.8075 0.900524 0.9121 0.8059 Uncertain 15_58476092_-->A 15 58476092 58476092 - A indel 1003.73 0/1 99 69 34 35 0.51 intronic rs3832977 AQP9 AU NM_020980 exon6 c.45395-67insA 0.50619 0.5883 Uncertain 15_58476281_A->G 15 58476281 58476281 A G snp 781.77 0/1 99 73 40 33 0.45 exonic rs1867380 AQP9 AU nonsynonymous SNV NM_020980 exon6 c.A835G p.T279A 0.842851 0.8313 0.900601 0.9148 0.8418 0.77 T 0.0 P -0.998 T 0.0 T 0.0 T Pathogenic 15_58833938_G->A 15 58833938 58833938 G A snp 507.77 0/1 99 29 10 19 0.66 intronic rs6076 LIPC AR,AD,AU NM_000236 exon3 c.109752-45G>A 0.383786 0.755 0.202067 0.2934 0.7827 Uncertain 15_58834375_T->C 15 58834375 58834375 T C snp 218.84 1/1 18 6 0 6 1.0 intronic rs2242061 LIPC AR,AD,AU NM_000236 exon3 c.109935+209T>C 0.358227 0.4683 Uncertain 15_58834741_G->T 15 58834741 58834741 G T snp 628.77 0/1 99 53 28 25 0.47 exonic rs690 LIPC AR,AD,AU synonymous SNV NM_000236 exon4 c.G465T p.V155V 0.478035 0.2401 0.578886 0.5412 0.2469 Uncertain 15_58837764_A->G 15 58837764 58837764 A G snp 340.78 1/1 27 9 0 9 1.0 intronic rs4775075 LIPC AR,AD,AU NM_000236 exon5 c.113709-176A>G 0.169329 0.3899 Uncertain 15_58837910_T->C 15 58837910 58837910 T C snp 1887.77 1/1 99 61 0 61 1.0 intronic rs2414592 LIPC AR,AD,AU NM_000236 exon5 c.113709-30T>C 0.929712 1 0.927899 0.9790 1 Uncertain 15_58837957_A->G 15 58837957 58837957 A G snp 2283.77 1/1 99 79 0 79 1.0 exonic rs6082 LIPC AR,AD,AU synonymous SNV NM_000236 exon5 c.A591G p.G197G 0.16893 0.4018 0.084053 0.1229 0.4204 Uncertain 15_58838010_A->G 15 58838010 58838010 A G snp 3006.77 1/1 99 112 0 112 1.0 exonic rs6083 LIPC AR,AD,AU nonsynonymous SNV NM_000236 exon5 c.A644G p.N215S 0.608626 0.7917 0.469695 0.4703 0.8312 0.04 T 0.0 P -0.994 T 0.028 T 0.014 T ID=CM910256;DIS=Increased BMI, association with;TAG=DP;PUB=18364377 DP Pathogenic 15_58840450_A->C 15 58840450 58840450 A C snp 2067.77 1/1 99 69 0 69 1.0 intronic rs1007543 LIPC AR,AD,AU NM_000236 exon6 c.116297-78A>C 0.95607 1 Uncertain 15_58853079_C->A 15 58853079 58853079 C A snp 2126.77 1/1 99 83 0 83 1.0 exonic rs3829462 LIPC AR,AD,AU nonsynonymous SNV NM_000236 exon7 c.C1068A p.F356L 0.936102 0.9405 0.945327 0.9687 0.9375 0.68 T 1.000 P -0.968 T 0.127 T 0.132 T ID=CM962679;DIS=Hepatic lipase deficiency;TAG=DM?;PUB=8732782 DM? Pathogenic 15_58853109_A->G 15 58853109 58853109 A G snp 2580.77 1/1 99 97 0 97 1.0 exonic rs3829461 LIPC AR,AD,AU synonymous SNV NM_000236 exon7 c.A1098G p.T366T 0.935903 0.9395 0.945481 0.9687 0.9376 Uncertain 15_58853211_T->C 15 58853211 58853211 T C snp 2627.77 1/1 99 97 2 95 0.98 intronic rs77010273 LIPC AR,AD,AU NM_000236 exon7 c.128949+31T>C 0.0938498 0.2857 0.3866 0.5043 Uncertain 15_58853213_AC->- 15 58853213 58853214 AC - indel 4059.73 1/1 99 94 0 94 1.0 intronic rs59377652 LIPC AR,AD,AU NM_000236 exon7 c.128949+33_128949+34delAC 0.936102 0.9405 0.944169 0.9686 0.9371 Uncertain 15_58853218_C->T 15 58853218 58853218 C T snp 2429.77 1/1 99 86 0 86 1.0 intronic rs55913623 LIPC AR,AD,AU NM_000236 exon7 c.128949+38C>T 0.936102 0.9405 0.919031 0.9685 0.9372 Uncertain 15_58853307_C->G 15 58853307 58853307 C G snp 1193.77 1/1 87 38 0 38 1.0 intronic rs4774305 LIPC AR,AD,AU NM_000236 exon7 c.128949+127C>G 0.935503 0.9405 Uncertain 15_58853363_C->T 15 58853363 58853363 C T snp 299.78 1/1 24 11 0 11 1.0 intronic rs1869129 LIPC AR,AD,AU NM_000236 exon7 c.128949+183C>T 0.917332 0.9405 Uncertain 15_58857183_T->G 15 58857183 58857183 T G snp 261.8 1/1 21 7 0 7 1.0 intronic rs7163112 LIPC AR,AD,AU NM_000236 exon8 c.131691+1261T>G 0.972444 1 Uncertain 15_58857230_G->C 15 58857230 58857230 G C snp 1009.77 1/1 75 31 0 31 1.0 intronic rs4775080 LIPC AR,AD,AU NM_000236 exon8 c.131691+1308G>C 0.972444 1 Uncertain 15_58857255_A->G 15 58857255 58857255 A G snp 1418.77 1/1 99 46 0 46 1.0 intronic rs4775081 LIPC AR,AD,AU NM_000236 exon8 c.131691+1333A>G 0.972444 1 Uncertain 15_58891950_A->- 15 58891950 58891950 A - indel 707.73 1/1 71 37 1 36 0.97 intronic rs35772938 ADAM10 AU,AD NM_001110 exon2 c.2178+27delA 0.635184 0.8036 0.5322 0.8731 Uncertain 15_58902769_A->C 15 58902769 58902769 A C snp 3095.77 1/1 99 110 1 109 0.99 intronic rs12439189 ADAM10 AU,AD NM_001110 exon3 c.12971+53A>C 0.286941 0.5526 Uncertain 15_58903083_A->G 15 58903083 58903083 A G snp 61.77 0/1 90 6 3 3 0.5 intronic rs2305421 ADAM10 AU,AD NM_001110 exon4 c.13452-114A>G 0.248403 0.3859 Uncertain 15_58983318_G->C 15 58983318 58983318 G C snp 3995.77 1/1 99 149 0 149 1.0 ncRNA_exonic rs7179724 HSP90AB4P AU 0.245008 0.4623 0.1995 0.4270 Uncertain 15_58983425_G->C 15 58983425 58983425 G C snp 2907.77 1/1 99 97 0 97 1.0 ncRNA_exonic rs7161889 HSP90AB4P AU 0.626398 0.8442 0.5151 0.8610 Uncertain 15_58983588_T->A 15 58983588 58983588 T A snp 3371.77 1/1 99 118 0 118 1.0 ncRNA_exonic rs7163162 HSP90AB4P AU 0.626398 0.8442 0.5264 0.8546 Uncertain 15_58984394_G->C 15 58984394 58984394 G C snp 2797.77 0/1 99 235 120 115 0.49 ncRNA_exonic rs12437998 HSP90AB4P AU 0.260383 0.3819 0.2246 0.4326 Uncertain 15_58985164_T->G 15 58985164 58985164 T G snp 5517.77 1/1 99 200 1 199 0.99 ncRNA_exonic rs4774310 HSP90AB4P AU 0.516573 0.8433 0.4001 0.8431 Uncertain 15_59041813_G->A 15 59041813 59041813 G A snp 2611.77 0/1 99 224 112 112 0.5 UTR5 rs201149517 ADAM10 AU,AD 0.000599042 0.003 Uncertain 15_59144199_A->G 15 59144199 59144199 A G snp 615.77 1/1 45 21 0 21 1.0 intronic rs16940850 FAM63B AU NM_001040453 exon8 c.80570+35A>G 0.46226 0.4077 0.580233 0.5947 0.4122 Uncertain 15_59185929_T->C 15 59185929 59185929 T C snp 262.8 1/1 21 7 0 7 1.0 intronic rs4238332 SLTM AU NM_024755 exon10 c.13822-90T>C 0.961861 0.999 Uncertain 15_59347929_C->A 15 59347929 59347929 C A snp 1810.77 1/1 99 71 0 71 1.0 exonic rs1446239 RNF111 AU synonymous SNV NM_001270528 exon4 c.C1056A p.S352S 0.441693 0.4405 0.442619 0.3893 0.4623 Uncertain 15_59358845_A->C 15 59358845 59358845 A C snp 351.78 1/1 27 10 0 10 1.0 intronic rs62002543 RNF111 AU NM_017610 exon6 c.35941-117A>C 0.283946 0.4087 Uncertain 15_59358862_G->A 15 59358862 59358862 G A snp 471.77 1/1 36 16 0 16 1.0 intronic rs62002544 RNF111 AU NM_017610 exon6 c.35941-100G>A 0.288938 0.4087 Uncertain 15_59368167_G->A 15 59368167 59368167 G A snp 2277.77 1/1 99 74 0 74 1.0 exonic rs7178935 RNF111 AU synonymous SNV NM_001270528 exon7 c.G1701A p.V567V 0.426318 0.4563 0.386935 0.3353 0.4757 Uncertain 15_59368510_T->G 15 59368510 59368510 T G snp 593.77 1/1 45 16 0 16 1.0 intronic rs4775115 RNF111 AU NM_017610 exon7 c.45393+96T>G 0.317692 0.4107 Uncertain 15_59376531_T->C 15 59376531 59376531 T C snp 435.77 1/1 33 14 0 14 1.0 intronic rs12915899 RNF111 AU NM_017610 exon9 c.53432+78T>C 0.296725 0.4107 Uncertain 15_59381769_A->T 15 59381769 59381769 A T snp 969.77 1/1 72 32 0 32 1.0 intronic rs2289895 RNF111 AU NM_017610 exon11 c.58844-96A>T 0.292931 0.4058 Uncertain 15_59385560_T->C 15 59385560 59385560 T C snp 454.77 1/1 36 12 0 12 1.0 intronic rs74017353 RNF111 AU NM_017610 exon13 c.61818+721T>C 0.0135 0.0377 Uncertain 15_59399502_T->- 15 59399502 59399502 T - indel 75.87 0/1 15 9 2 7 0.78 intronic rs11293095 CCNB2 AU NM_004701 exon2 c.2053-18delT 0.465256 0.4782 0.4012 0.4258 Uncertain 15_59406581_T->C 15 59406581 59406581 T C snp 2009.77 1/1 99 69 0 69 1.0 intronic rs8039514 CCNB2 AU NM_004701 exon4 c.9175-61T>C 0.402556 0.4167 Uncertain 15_59415935_AT->- 15 59415935 59415936 AT - indel 295.8 1/1 18 7 0 7 1.0 intronic rs3830310 CCNB2 AU NM_004701 exon8 c.18359+109_18359+110delAT 0.28135 0.3859 Uncertain 15_59429111_G->A 15 59429111 59429111 G A snp 222.84 1/1 18 6 0 6 1.0 UTR3 rs11539756 MYO1E AR 0.273163 0.38 Uncertain 15_59453236_C->T 15 59453236 59453236 C T snp 301.77 0/1 99 20 7 13 0.65 intronic rs7182408 MYO1E AR NM_004998 exon5 c.23693-35C>T 0.107228 0.0208 0.130015 0.1164 0.0212 Uncertain 15_59453384_T->C 15 59453384 59453384 T C snp 925.77 0/1 99 73 30 43 0.59 exonic rs2306791 MYO1E AR synonymous SNV NM_004998 exon24 c.A2673G p.A891A 0.255391 0.0843 0.281626 0.1964 0.0841 Uncertain 15_59453578_G->A 15 59453578 59453578 G A snp 114.77 0/1 99 12 7 5 0.42 intronic rs7165444 MYO1E AR NM_004998 exon5 c.23851+149G>A 0.0782748 0.0198 Uncertain 15_59455520_A->C 15 59455520 59455520 A C snp 574.77 0/1 99 73 48 25 0.34 intronic rs11858347 MYO1E AR NM_004998 exon6 c.25924+18A>C 0.0844649 0.0258 0.098889 0.1083 0.0239 Uncertain 15_59463595_T->C 15 59463595 59463595 T C snp 56.74 1/1 6 2 0 2 1.0 intronic rs6494072 MYO1E AR NM_004998 exon7 c.34517-500T>C 0.879193 0.9931 Uncertain 15_59463956_C->G 15 59463956 59463956 C G snp 90.28 1/1 9 3 0 3 1.0 intronic rs2306790 MYO1E AR NM_004998 exon7 c.34517-139C>G 0.0846645 0.0258 Uncertain 15_59464039_G->A 15 59464039 59464039 G A snp 409.77 0/1 99 53 33 20 0.38 intronic rs2306788 MYO1E AR NM_004998 exon7 c.34517-56G>A 0.317093 0.3304 Uncertain 15_59466489_C->A 15 59466489 59466489 C A snp 2565.77 0/1 99 240 127 113 0.47 intronic rs58124311 MYO1E AR NM_004998 exon9 c.36861+50C>A 0.0758786 0.0248 0.089247 0.0948 0.0224 Uncertain 15_59487930_C->G 15 59487930 59487930 C G snp 369.77 0/1 99 18 7 11 0.61 intronic rs2306786 MYO1E AR NM_004998 exon12 c.58188+164C>G 0.0708866 0.0407 Uncertain 15_59494673_C->T 15 59494673 59494673 C T snp 466.77 0/1 99 50 30 20 0.4 intronic rs2306787 MYO1E AR NM_004998 exon13 c.65028+67C>T 0.557708 0.6825 Uncertain 15_59497437_G->C 15 59497437 59497437 G C snp 152.77 0/1 99 13 7 6 0.46 intronic rs2414623 MYO1E AR NM_004998 exon14 c.68020-161G>C 0.496206 0.6101 Uncertain 15_59497708_-->AATTTCATTGAACAAAATGT 15 59497708 59497708 - AATTTCATTGAACAAAATGT indel 8565.73 0/1 99 152 58 94 0.62 intronic rs140060017 MYO1E AR NM_004998 exon14 c.68106+24insAATTTCATTGAACAAAATGT 0.0860623 0.0387 0.090495 0.0711 0.0398 Uncertain 15_59499025_G->T 15 59499025 59499025 G T snp 113.77 0/1 99 7 3 4 0.57 UTR5 rs79635897 LDHAL6B AU 0.0944489 0.0397 Uncertain 15_59499120_C->T 15 59499120 59499120 C T snp 892.77 0/1 99 79 40 39 0.49 UTR5 rs76593785 LDHAL6B AU 0.0950479 0.0397 0.089815 0.0827 0.0450 Uncertain 15_59499472_G->A 15 59499472 59499472 G A snp 1410.77 0/1 99 122 61 61 0.5 exonic rs61741295 LDHAL6B AU synonymous SNV NM_033195 exon1 c.G333A p.T111T 0.104433 0.0397 0.098750 0.0764 0.0411 Uncertain 15_59500117_T->C 15 59500117 59500117 T C snp 1817.77 0/1 99 152 74 78 0.51 exonic rs61753957 LDHAL6B AU synonymous SNV NM_033195 exon1 c.T978C p.I326I 0.105631 0.0397 0.099398 0.0769 0.0414 Uncertain 15_59500255_C->T 15 59500255 59500255 C T snp 1379.77 0/1 99 125 64 61 0.49 exonic rs61740133 LDHAL6B AU synonymous SNV NM_033195 exon1 c.C1116T p.L372L 0.105631 0.0397 0.091375 0.0788 0.0418 Uncertain 15_59500346_C->T 15 59500346 59500346 C T snp 294.77 0/1 99 20 10 10 0.5 UTR3 rs76501863 LDHAL6B AU 0.105631 0.0397 Uncertain 15_59500352_T->G 15 59500352 59500352 T G snp 137.77 0/1 99 15 9 6 0.4 UTR3 rs376745688 LDHAL6B AU 0.000399361 0.002 Uncertain 15_59500842_T->C 15 59500842 59500842 T C snp 1472.77 0/1 99 156 93 63 0.4 intronic rs80027646 MYO1E AR NM_004998 exon15 c.71301-37T>C 0.107628 0.0397 0.102222 0.0777 0.0414 Uncertain 15_59510189_G->A 15 59510189 59510189 G A snp 4111.77 1/1 99 131 0 131 1.0 exonic rs2230155 MYO1E AR synonymous SNV NM_004998 exon10 c.C1008T p.S336S 0.507188 0.7242 0.339275 0.4271 0.7071 Uncertain 15_59515446_C->G 15 59515446 59515446 C G snp 1201.77 1/1 87 40 0 40 1.0 intronic rs2306780 MYO1E AR NM_004998 exon20 c.85812+56C>G 0.511182 0.7202 Uncertain 15_59516875_C->T 15 59516875 59516875 C T snp 1706.77 1/1 99 60 0 60 1.0 intronic rs2306781 MYO1E AR NM_004998 exon21 c.87309-12C>T 0.311502 0.5804 0.127778 0.2500 0.5767 Uncertain 15_59519808_T->A 15 59519808 59519808 T A snp 1338.77 0/1 99 104 51 53 0.51 intronic rs2306782 MYO1E AR NM_004998 exon22 c.90211+19T>A 0.0205671 0.0218 0.008796 0.0108 0.0260 Uncertain 15_59524043_G->A 15 59524043 59524043 G A snp 1021.77 0/1 99 61 27 34 0.56 intronic rs2306783 MYO1E AR NM_004998 exon23 c.94412+53G>A 0.252796 0.5298 0.114159 Uncertain 15_59524056_T->C 15 59524056 59524056 T C snp 1637.77 1/1 99 45 0 45 1.0 intronic rs7165587 MYO1E AR NM_004998 exon23 c.94412+66T>C 0.94369 1 Uncertain 15_59524108_G->A 15 59524108 59524108 G A snp 156.78 0/1 24 6 1 5 0.83 intronic rs2306784 MYO1E AR NM_004998 exon23 c.94412+118G>A 0.251997 0.5298 Uncertain 15_59548475_C->T 15 59548475 59548475 C T snp 6772.77 1/1 99 246 0 246 1.0 intronic rs4508371 MYO1E AR NM_004998 exon25 c.118904-7C>T 0.97504 1 0.977469 0.9939 1 Uncertain 15_59548494_G->A 15 59548494 59548494 G A snp 2654.77 0/1 99 234 123 111 0.47 exonic rs117371632 MYO1E AR synonymous SNV NM_004998 exon4 c.C321T p.C107C 0.000798722 0.004 0.000077 0.0005 0.0065 Uncertain 15_59664607_C->A 15 59664607 59664607 C A snp 170.9 1/1 15 5 0 5 1.0 intronic rs7175010 MYO1E AR NM_004998 exon28 c.235118-89C>A 0.995208 1 Uncertain 15_59664963_G->C 15 59664963 59664963 G C snp 174.9 1/1 15 5 0 5 1.0 UTR5 rs10220865 MYO1E AR 0.974241 1 Uncertain 15_59750930_G->A 15 59750930 59750930 G A snp 4124.77 1/1 99 139 0 139 1.0 intronic rs11071448 FAM81A AU NM_152450 exon2 c.20+85G>A 0.792133 0.8492 0.753540 Uncertain 15_59750960_A->G 15 59750960 59750960 A G snp 3399.77 1/1 99 115 0 115 1.0 intronic rs7359171 FAM81A AU NM_152450 exon2 c.20+115A>G 0.801318 0.8492 Uncertain 15_59752053_G->A 15 59752053 59752053 G A snp 884.77 1/1 63 36 0 36 1.0 intronic rs3803445 FAM81A AU NM_152450 exon3 c.1306-78G>A 0.857228 0.877 Uncertain 15_59784334_C->A 15 59784334 59784334 C A snp 262.8 1/1 21 7 0 7 1.0 intronic rs4291860 FAM81A AU NM_152450 exon4 c.33644-135C>A 0.846246 0.8472 Uncertain 15_59784493_C->T 15 59784493 59784493 C T snp 2715.77 1/1 99 99 0 99 1.0 exonic rs4296198 FAM81A AU synonymous SNV NM_152450 exon4 c.C318T p.A106A 0.779553 0.8185 0.764572 0.8097 0.8271 Uncertain 15_59784648_A->G 15 59784648 59784648 A G snp 2292.77 1/1 99 85 1 84 0.99 intronic rs4417505 FAM81A AU NM_152450 exon4 c.33763+60A>G 0.561102 0.5873 Uncertain 15_59911892_G->T 15 59911892 59911892 G T snp 795.77 1/1 60 22 0 22 1.0 UTR3 rs3743119 GCNT3 AU 0.805711 0.7242 Uncertain 15_59931556_G->C 15 59931556 59931556 G C snp 132.77 0/1 30 9 2 7 0.78 intronic rs8033208 GTF2A2 AU NM_004492 exon1 c.26+200G>C 0.817692 0.7401 Uncertain 15_59944300_T->C 15 59944300 59944300 T C snp 827.77 0/1 99 58 24 34 0.59 intronic rs4774340 GTF2A2 AU NM_004492 exon4 c.13074-104T>C 0.625599 0.4385 Uncertain 15_59960261_T->C 15 59960261 59960261 T C snp 1727.77 1/1 99 69 0 69 1.0 intronic rs6151568 BNIP2 AU NM_004330 exon2 c.4823-829T>C 0.335863 0.5952 0.3776 0.6286 Uncertain 15_59963488_A->G 15 59963488 59963488 A G snp 625.77 0/1 99 55 27 28 0.51 exonic rs1135148 BNIP2 AU synonymous SNV NM_004330 exon7 c.T964C p.L322L 0.332069 0.5615 0.277838 0.4173 0.5801 Uncertain 15_59964798_C->G 15 59964798 59964798 C G snp 815.77 1/1 60 32 0 32 1.0 intronic rs4774342 BNIP2 AU NM_004330 exon5 c.8568-37C>G 0.988818 1 0.984327 0.9960 1 Uncertain 15_59964987_G->A 15 59964987 59964987 G A snp 919.77 0/1 99 84 40 44 0.52 intronic rs6151535 BNIP2 AU NM_004330 exon5 c.8671+49G>A 0.364617 0.5615 0.309230 0.3643 0.5514 Uncertain 15_59965095_G->C 15 59965095 59965095 G C snp 43.77 0/1 70 4 2 2 0.5 intronic rs6151534 BNIP2 AU NM_004330 exon5 c.8671+157G>C 0.178315 0.2768 Uncertain 15_59970298_C->A 15 59970298 59970298 C A snp 1238.77 0/1 99 107 56 51 0.48 intronic rs2307272 BNIP2 AU NM_004330 exon6 c.14019+12C>A 0.364417 0.5615 0.306481 0.3830 0.5567 Uncertain 15_59972552_-->T 15 59972552 59972552 - T indel 395.73 0/1 99 49 23 26 0.53 intronic rs397954987 BNIP2 AU NM_004330 exon8 c.16240+45insT 0.177915 0.2808 0.082246 0.0937 0.2235 Uncertain 15_59974566_C->G 15 59974566 59974566 C G snp 927.77 0/1 99 69 32 37 0.54 intronic rs2307275 BNIP2 AU NM_004330 exon9 c.18339-40C>G 0.365016 0.5625 0.310571 0.3660 0.5524 Uncertain 15_59974777_A->G 15 59974777 59974777 A G snp 1562.77 1/1 99 51 0 51 1.0 intronic rs6151483 BNIP2 AU NM_004330 exon9 c.18446+64A>G 0.544129 0.8413 Uncertain 15_59981242_C->T 15 59981242 59981242 C T snp 143.77 0/1 99 19 11 8 0.42 intronic rs2306358 BNIP2 AU NM_004330 exon10 c.25066-91C>T 0.409545 0.5903 Uncertain 15_59981491_T->G 15 59981491 59981491 T G snp 969.77 0/1 99 83 43 40 0.48 exonic rs2306359 BNIP2 AU nonsynonymous SNV NM_004330 exon1 c.A149C p.D50A 0.177915 0.251 0.1543 0.2584 0.000 P -0.978 T Pathogenic 15_59981515_A->G 15 59981515 59981515 A G snp 1268.77 0/1 99 100 46 54 0.54 exonic rs3087328 BNIP2 AU nonsynonymous SNV NM_004330 exon1 c.T125C p.V42A 0.409744 0.5913 0.4157 0.5946 0.000 P -0.948 T Pathogenic 15_59981590_G->A 15 59981590 59981590 G A snp 1565.77 0/1 99 119 49 70 0.59 exonic rs754641 BNIP2 AU nonsynonymous SNV NM_004330 exon1 c.C50T p.P17L 0.409744 0.5903 0.4281 0.6141 0.000 P -0.924 T Pathogenic 15_59981719_C->T 15 59981719 59981719 C T snp 440.77 0/1 99 38 20 18 0.47 upstream rs754642 BNIP2 AU 0.409345 0.5903 Uncertain 15_60298221_C->A 15 60298221 60298221 C A snp 41.74 1/1 6 2 0 2 1.0 downstream rs8040887 FOXB1 AU 0.420927 0.3988 Uncertain 15_60643302_T->C 15 60643302 60643302 T C snp 934.77 0/1 99 86 47 39 0.45 intronic rs3743269 ANXA2 AU NM_001136015 exon3 c.3563-89T>C 0.76278 0.6349 Uncertain 15_60643853_C->G 15 60643853 60643853 C G snp 80.77 0/1 99 6 3 3 0.5 intronic rs8037326 ANXA2 AU NM_001136015 exon4 c.4094-69C>G 0.769369 0.6349 Uncertain 15_60644050_C->T 15 60644050 60644050 C T snp 2936.77 0/1 99 250 129 121 0.48 intronic rs185041670 ANXA2 AU NM_001136015 exon4 c.4190+32C>T 0.00259585 0.0119 0.0007 0.0091 Uncertain 15_60646609_G->T 15 60646609 60646609 G T snp 83.77 0/1 30 4 1 3 0.75 intronic rs1967370 ANXA2 AU NM_001136015 exon6 c.6584+197G>T 0.767173 0.6319 Uncertain 15_60648214_T->C 15 60648214 60648214 T C snp 217.77 0/1 99 13 6 7 0.54 intronic rs12898604 ANXA2 AU NM_001136015 exon7 c.8369+17T>C 0.779952 0.6369 0.805628 0.7697 0.6394 Uncertain 15_60649580_C->- 15 60649580 60649580 C - indel 997.73 0/1 99 66 36 30 0.45 intronic rs5813020 ANXA2 AU NM_001136015 exon8 c.9607+145delC 0.760383 0.6359 Uncertain 15_60666686_C->T 15 60666686 60666686 C T snp 2688.77 0/1 99 222 106 116 0.52 intronic rs4775262 ANXA2 AU NM_001136015 exon11 c.34712-7854C>T 0.0964457 0.1806 0.1197 0.1970 Uncertain 15_60678160_G->A 15 60678160 60678160 G A snp 519.77 1/1 39 15 0 15 1.0 intronic rs3743268 ANXA2 AU NM_001136015 exon12 c.38398-66G>A 0.26857 0.4454 0.251424 Uncertain 15_60678298_T->A 15 60678298 60678298 T A snp 2935.77 1/1 99 109 0 109 1.0 intronic rs11855679 ANXA2 AU NM_001136015 exon12 c.38457+13T>A 0.838458 0.999 0.760111 0.8444 0.9998 Uncertain 15_60678328_C->T 15 60678328 60678328 C T snp 3461.77 1/1 99 130 0 130 1.0 intronic rs11858864 ANXA2 AU NM_001136015 exon12 c.38457+43C>T 0.838458 0.999 0.759880 0.8428 0.9995 Uncertain 15_60678350_T->C 15 60678350 60678350 T C snp 3375.77 1/1 99 130 0 130 1.0 intronic rs7182242 ANXA2 AU NM_001136015 exon12 c.38457+65T>C 0.838458 0.999 0.764783 Uncertain 15_60685142_AAA->- 15 60685142 60685144 AAA - indel 215.76 0/1 22 13 4 9 0.69 intronic rs769665976 ANXA2 AU NM_001136015 exon13 c.42688+2626_42688+2628delAAA Uncertain 15_60689877_A->G 15 60689877 60689877 A G snp 88.28 1/1 9 3 0 3 1.0 intronic rs12904258 ANXA2 AU NM_001002858 exon13 c.50241-192A>G 0.780551 0.9077 Uncertain 15_60689927_G->C 15 60689927 60689927 G C snp 389.77 1/1 30 15 0 15 1.0 intronic rs12904756 ANXA2 AU NM_001002858 exon13 c.50241-142G>C 0.965256 1 Uncertain 15_60690089_A->G 15 60690089 60690089 A G snp 2394.77 1/1 99 95 0 95 1.0 exonic rs12904657 ANXA2 AU synonymous SNV NM_001002858 exon1 c.T24C p.C8C 0.794329 0.9087 0.746593 0.7341 0.9026 Uncertain 15_60720488_T->C 15 60720488 60720488 T C snp 702.77 1/1 51 25 0 25 1.0 intronic rs59228235 ICE2 AU NM_001018089 exon2 c.4795-139T>C 0.605631 0.8214 Uncertain 15_60724118_C->G 15 60724118 60724118 C G snp 930.77 1/1 66 39 0 39 1.0 intronic rs12437617 ICE2 AU NM_001018089 exon3 c.8300-14C>G 0.678914 0.9157 0.589344 0.7244 0.9425 Uncertain 15_60734697_A->G 15 60734697 60734697 A G snp 1218.77 1/1 87 43 0 43 1.0 exonic rs1063100 ICE2 AU synonymous SNV NM_001018089 exon12 c.T1932C p.Y644Y 0.594649 0.8244 0.476623 0.6153 0.8402 Uncertain 15_60740915_C->T 15 60740915 60740915 C T snp 885.77 1/1 66 25 0 25 1.0 intronic rs1901993 ICE2 AU NM_001018089 exon7 c.25214-131C>T 0.979832 1 Uncertain 15_60742063_G->T 15 60742063 60742063 G T snp 2539.77 1/1 99 91 0 91 1.0 intronic rs1869484 ICE2 AU NM_001018089 exon7 c.26208+23G>T 0.592452 0.8214 0.449540 0.6184 0.8405 Uncertain 15_60748810_T->A 15 60748810 60748810 T A snp 95.28 1/1 9 4 0 4 1.0 intronic rs7163427 ICE2 AU NM_001018089 exon11 c.33023-45T>A 0.59385 0.8254 0.415321 0.6080 0.8417 Uncertain 15_60771289_A->G 15 60771289 60771289 A G snp 5574.77 1/1 99 204 0 204 1.0 UTR5 rs3743267 ICE2 AU 0.731629 0.9187 Uncertain 15_60771438_-->C 15 60771438 60771438 - C indel 634.73 1/1 48 16 0 16 1.0 ncRNA_exonic rs11389291 RORA-AS1 AU 0.731629 0.9187 Uncertain 15_60789798_G->T 15 60789798 60789798 G T snp 5759.77 1/1 99 216 1 215 1.0 exonic rs11071539 RORA AU synonymous SNV NM_134260 exon12 c.C1527A p.T509T 0.940296 1 0.942565 0.9824 1 Uncertain 15_60794807_A->G 15 60794807 60794807 A G snp 141.03 1/1 12 4 0 4 1.0 ncRNA_intronic rs1869486 RORA-AS1 AU 0.780351 0.9345 Uncertain 15_60797607_T->C 15 60797607 60797607 T C snp 3066.77 1/1 99 95 0 95 1.0 ncRNA_intronic rs7171309 RORA-AS1 AU 0.59385 0.8204 Uncertain 15_60823932_T->C 15 60823932 60823932 T C snp 747.77 0/1 99 72 43 29 0.4 ncRNA_intronic rs17237283 RORA-AS1 AU 0.0335463 0.1488 0.002307 0.0203 0.1824 Uncertain 15_60824108_T->C 15 60824108 60824108 T C snp 3088.77 1/1 99 107 0 107 1.0 ncRNA_intronic rs10851682 RORA-AS1 AU 0.9998 0.999 Uncertain 15_60969646_G->A 15 60969646 60969646 G A snp 226.77 0/1 99 28 19 9 0.32 intergenic rs192097405 RORA-AS1 AU 0.000199681 0.001 Uncertain 15_62146969_T->A 15 62146969 62146969 T A snp 146.77 0/1 99 11 6 5 0.45 intronic rs2241491 VPS13C AR NM_020821 exon2 c.414-100T>A 0.513978 0.4732 Uncertain 15_62147207_T->A 15 62147207 62147207 T A snp 410.77 0/1 99 39 21 18 0.46 intronic rs2241492 VPS13C AR NM_020821 exon2 c.498+54T>A 0.332668 0.2659 0.351073 Uncertain 15_62148731_A->- 15 62148731 62148731 A - indel 160.73 0/1 99 22 8 14 0.64 intronic rs3833021 VPS13C AR NM_020821 exon3 c.1953+123delA 0.560703 0.5357 Uncertain 15_62160742_T->C 15 62160742 62160742 T C snp 338.77 0/1 99 18 6 12 0.67 intronic rs12591667 VPS13C AR NM_018080 exon2 c.735-115T>C 0.122404 0.2044 Uncertain 15_62160758_C->A 15 62160758 62160758 C A snp 500.77 0/1 99 28 9 19 0.68 intronic rs7163441 VPS13C AR NM_018080 exon2 c.735-99C>A 0.511382 0.4712 Uncertain 15_62167017_G->A 15 62167017 62167017 G A snp 62.77 0/1 91 14 10 4 0.29 intronic rs6494299 VPS13C AR NM_018080 exon6 c.6952-57G>A 0.559704 0.5268 0.537922 Uncertain 15_62167897_G->A 15 62167897 62167897 G A snp 184.77 0/1 99 25 15 10 0.4 intronic rs12708469 VPS13C AR NM_018080 exon7 c.7808-33G>A 0.511382 0.4712 0.522244 0.5525 0.4960 Uncertain 15_62169072_A->G 15 62169072 62169072 A G snp 338.77 0/1 99 27 14 13 0.48 intronic rs11071634 VPS13C AR NM_018080 exon8 c.9049-99A>G 0.512979 0.4712 Uncertain 15_62172977_G->T 15 62172977 62172977 G T snp 293.77 0/1 99 32 19 13 0.41 intronic rs3809516 VPS13C AR NM_018080 exon10 c.12799+56G>T 0.120607 0.2034 Uncertain 15_62172985_G->A 15 62172985 62172985 G A snp 329.77 0/1 99 34 20 14 0.41 intronic rs3809517 VPS13C AR NM_018080 exon11 c.12919-56G>A 0.510383 0.4722 Uncertain 15_62175003_C->G 15 62175003 62175003 C G snp 412.77 0/1 99 37 19 18 0.49 intronic rs12442506 VPS13C AR NM_018080 exon14 c.14813+68C>G 0.121006 0.2054 Uncertain 15_62199342_T->A 15 62199342 62199342 T A snp 491.77 0/1 99 27 12 15 0.56 intronic rs28413840 VPS13C AR NM_018080 exon17 c.39340-120T>A 0.513578 0.4712 0.5583 0.5044 Uncertain 15_62202482_C->T 15 62202482 62202482 C T snp 2046.77 0/1 99 166 66 100 0.6 exonic rs10851704 VPS13C AR nonsynonymous SNV NM_020821 exon64 c.G8738A p.S2913N 0.516374 0.4732 0.522913 0.5472 0.4902 1 T 0.000 P -0.914 T 0.0 T 0.001 T Pathogenic 15_62202638_T->C 15 62202638 62202638 T C snp 48.74 1/1 6 2 0 2 1.0 intronic rs10851705 VPS13C AR NM_018080 exon19 c.42382+134T>C 0.516973 0.4732 Uncertain 15_62210274_G->T 15 62210274 62210274 G T snp 147.77 0/1 99 22 13 9 0.41 intronic rs11071639 VPS13C AR NM_018080 exon24 c.50212-60G>T 0.506589 0.4722 Uncertain 15_62211450_G->A 15 62211450 62211450 G A snp 822.77 1/1 63 22 0 22 1.0 intronic rs963024 VPS13C AR NM_018080 exon25 c.51365-37G>A 0.673123 0.7688 0.612752 0.6036 0.7461 Uncertain 15_62212781_T->C 15 62212781 62212781 T C snp 1141.77 0/1 99 87 36 51 0.59 exonic rs17238189 VPS13C AR synonymous SNV NM_020821 exon56 c.A7128G p.Q2376Q 0.120407 0.2054 0.047722 0.0737 0.1963 Uncertain 15_62221592_A->C 15 62221592 62221592 A C snp 472.77 1/1 36 13 0 13 1.0 intronic rs28411984 VPS13C AR NM_018080 exon32 c.61577-107A>C 0.747005 0.8571 Uncertain 15_62221679_T->C 15 62221679 62221679 T C snp 1356.77 0/1 99 104 49 55 0.53 intronic rs72747895 VPS13C AR NM_018080 exon32 c.61577-20T>C 0.120008 0.2044 0.047601 0.0733 0.1951 Uncertain 15_62223273_C->T 15 62223273 62223273 C T snp 1780.77 0/1 99 171 88 83 0.49 intronic rs9788670 VPS13C AR NM_018080 exon33 c.63166-15C>T 0.550719 0.5248 0.536137 0.5574 0.5370 Uncertain 15_62228696_G->C 15 62228696 62228696 G C snp 51.77 0/1 80 16 13 3 0.19 intronic rs11071641 VPS13C AR NM_018080 exon35 c.68673-99G>C 0.444888 0.4653 Uncertain 15_62232796_C->T 15 62232796 62232796 C T snp 152.77 0/1 99 14 8 6 0.43 intronic rs7172838 VPS13C AR NM_018080 exon36 c.72723-49C>T 0.545128 0.5317 0.531846 0.5614 0.5443 Uncertain 15_62238231_G->A 15 62238231 62238231 G A snp 46.77 0/1 33 3 1 2 0.67 intronic rs2113932 VPS13C AR NM_018080 exon38 c.77959+150G>A 0.432508 0.4683 Uncertain 15_62239697_C->T 15 62239697 62239697 C T snp 133.03 1/1 12 4 0 4 1.0 intronic rs7172145 VPS13C AR NM_018080 exon40 c.79386+189C>T 0.674321 0.7629 Uncertain 15_62244281_C->G 15 62244281 62244281 C G snp 184.77 0/1 99 18 9 9 0.5 intronic rs17238252 VPS13C AR NM_018080 exon44 c.84057+102C>G 0.422524 0.4702 Uncertain 15_62254989_T->C 15 62254989 62254989 T C snp 1563.77 0/1 99 137 61 76 0.55 exonic rs3784635 VPS13C AR nonsynonymous SNV NM_020821 exon33 c.A3394G p.I1132V 0.096845 0.2054 0.019145 0.0679 0.1977 0.43 T 0.627 P -1.059 T 0.367 T 0.087 T Pathogenic 15_62255172_A->G 15 62255172 62255172 A G snp 82.77 0/1 99 7 3 4 0.57 intronic rs17304010 VPS13C AR NM_018080 exon50 c.94929+121A>G 0.480431 0.5278 Uncertain 15_62259637_C->T 15 62259637 62259637 C T snp 1381.77 1/1 96 56 0 56 1.0 exonic rs3784634 VPS13C AR nonsynonymous SNV NM_020821 exon29 c.G2921A p.R974K 0.755391 0.8542 0.667744 0.6288 0.8482 1 T 0.0 P -0.985 T 0.0 T 0.0 T Pathogenic 15_62261741_C->T 15 62261741 62261741 C T snp 153.78 0/1 24 6 1 5 0.83 intronic rs12594218 VPS13C AR NM_018080 exon55 c.101529+90C>T 0.109625 0.1558 Uncertain 15_62265507_G->A 15 62265507 62265507 G A snp 350.77 0/1 99 25 9 16 0.64 intronic rs11071645 VPS13C AR NM_018080 exon57 c.105530-145G>A 0.768171 0.5665 Uncertain 15_62299603_T->G 15 62299603 62299603 T G snp 1486.77 0/1 99 135 65 70 0.52 exonic rs9635356 VPS13C AR synonymous SNV NM_020821 exon15 c.A1194C p.I398I 0.108826 0.2063 0.034692 0.0724 0.1980 Uncertain 15_62304421_ACACAC->- 15 62304421 62304426 ACACAC - indel 615.73 0/1 99 43 13 30 0.7 intronic rs140372940 VPS13C AR NM_018080 exon71 c.144241+58_144241+63delACACAC Uncertain 15_62305090_A->G 15 62305090 62305090 A G snp 115.77 0/1 99 8 3 5 0.63 intronic rs12594658 VPS13C AR NM_018080 exon72 c.145115-147A>G 0.346845 0.3452 Uncertain 15_62316035_C->T 15 62316035 62316035 C T snp 584.77 0/1 99 60 36 24 0.4 exonic rs12595158 VPS13C AR nonsynonymous SNV NM_020821 exon7 c.G458A p.R153H 0.106829 0.2024 0.032610 0.0699 0.1935 0.01 T 1.000 P -1.092 T 0.994 D 0.669 D Pathogenic 15_62327127_T->C 15 62327127 62327127 T C snp 378.77 0/1 99 39 21 18 0.46 intronic rs2414758 VPS13C AR NM_018080 exon77 c.167033-28T>C 0.507788 0.4732 0.511614 0.5348 0.4905 Uncertain 15_62352374_A->G 15 62352374 62352374 A G snp 211.77 0/1 99 12 5 7 0.58 intronic rs11639147 VPS13C AR NM_018080 exon80 c.192351-99A>G 0.515775 0.4464 Uncertain 15_62360396_C->T 15 62360396 62360396 C T snp 151.77 0/1 99 17 8 9 0.53 exonic rs370645340 C2CD4A AU nonsynonymous SNV NM_207322 exon2 c.C584T p.A195V 0.00139776 0.006 0.0052 0.1136 0.27 T 1 N -1.066 T 0.034 T 0.022 T Pathogenic 15_62456358_A->C 15 62456358 62456358 A C snp 2923.77 1/1 99 96 0 96 1.0 exonic rs8040712 C2CD4B AU nonsynonymous SNV NM_001007595 exon2 c.T826G p.F276V 0.734425 0.5853 0.7324 0.5977 0.49 T 0.0 P -0.968 T 0.0 T 0.0 T Pathogenic 15_62534764_A->T 15 62534764 62534764 A T snp 268.77 0/1 99 26 13 13 0.5 intergenic rs2414766 C2CD4B AU 0.318291 0.2579 Uncertain 15_62535864_T->C 15 62535864 62535864 T C snp 1595.77 0/1 99 145 86 59 0.41 intergenic rs11635709 C2CD4B AU 0.169928 0.2242 Uncertain 15_62536504_G->C 15 62536504 62536504 G C snp 181.77 0/1 94 9 3 6 0.67 intergenic rs28463870 C2CD4B AU 0.0792732 0.1964 Uncertain 15_62539151_T->C 15 62539151 62539151 T C snp 2113.77 1/1 99 64 0 64 1.0 intergenic rs7402021 C2CD4B AU 0.973442 1 Uncertain 15_62539153_-->GG 15 62539153 62539153 - GG indel 3142.73 1/1 99 63 0 63 1.0 intergenic rs397702430 C2CD4B AU 0.973642 1 Uncertain 15_62539162_A->C 15 62539162 62539162 A C snp 2925.77 1/1 99 95 0 95 1.0 intergenic rs2955803 C2CD4B AU 0.973442 1 Uncertain 15_62539185_T->C 15 62539185 62539185 T C snp 4236.77 1/1 99 150 0 150 1.0 intergenic rs2945418 C2CD4B AU 0.967252 0.999 0.9889 0.9996 Uncertain 15_62539781_A->G 15 62539781 62539781 A G snp 625.77 0/1 99 60 30 30 0.5 intergenic rs2611797 C2CD4B AU 0.410543 0.4563 0.4662 0.4715 Uncertain 15_62540522_C->G 15 62540522 62540522 C G snp 217.77 0/1 99 18 10 8 0.44 intergenic rs113777177 C2CD4B AU 0.0756789 0.1964 Uncertain 15_62936830_C->T 15 62936830 62936830 C T snp 1826.77 1/1 99 58 0 58 1.0 ncRNA_exonic rs11852582 MGC15885 AU 0.720048 0.7917 Uncertain 15_62939440_T->C 15 62939440 62939440 T C snp 705.77 1/1 54 20 0 20 1.0 upstream rs938979 TLN2 AU 0.629393 0.378 Uncertain 15_62944448_G->C 15 62944448 62944448 G C snp 430.77 1/1 33 12 0 12 1.0 intronic rs10775179 TLN2 AU NM_015059 exon3 c.4824+115G>C 0.44349 0.378 Uncertain 15_62967342_A->G 15 62967342 62967342 A G snp 2594.77 1/1 99 92 0 92 1.0 intronic rs1878785 TLN2 AU NM_015059 exon8 c.27906-73A>G 0.934704 0.9683 Uncertain 15_62967395_C->T 15 62967395 62967395 C T snp 3086.77 1/1 99 111 0 111 1.0 intronic rs1878784 TLN2 AU NM_015059 exon8 c.27906-20C>T 0.864417 0.9633 0.871521 0.9579 0.9554 Uncertain 15_62967554_T->C 15 62967554 62967554 T C snp 882.77 1/1 66 32 0 32 1.0 intronic rs1878783 TLN2 AU NM_015059 exon8 c.28011+34T>C 0.936102 0.9663 0.950715 0.9792 0.9628 Uncertain 15_62979016_A->C 15 62979016 62979016 A C snp 703.77 1/1 51 25 0 25 1.0 intronic rs12917611 TLN2 AU NM_015059 exon9 c.39486+21A>C 0.841653 0.9593 0.848839 0.9200 0.9571 Uncertain 15_62984874_G->A 15 62984874 62984874 G A snp 262.8 1/1 21 8 0 8 1.0 intronic rs11630525 TLN2 AU NM_015059 exon10 c.45529-164G>A 0.798123 0.9603 Uncertain 15_62985267_G->A 15 62985267 62985267 G A snp 77.77 0/1 99 7 4 3 0.43 intronic rs2009523 TLN2 AU NM_015059 exon10 c.45631+127G>A 0.362021 0.6806 Uncertain 15_62989775_T->C 15 62989775 62989775 T C snp 2764.77 1/1 99 98 0 98 1.0 intronic rs8034474 TLN2 AU NM_015059 exon12 c.50377-111T>C 0.955072 0.9673 Uncertain 15_62990916_G->A 15 62990916 62990916 G A snp 355.77 0/1 99 32 17 15 0.47 intronic rs12906130 TLN2 AU NM_015059 exon13 c.51443-36G>A 0.340655 0.6835 0.260034 0.3159 0.6646 Uncertain 15_62990971_C->T 15 62990971 62990971 C T snp 842.77 0/1 99 74 40 34 0.46 exonic rs12905981 TLN2 AU synonymous SNV NM_015059 exon13 c.C1492T p.L498L 0.350439 0.6855 0.281255 0.3386 0.6682 Uncertain 15_62991210_C->T 15 62991210 62991210 C T snp 268.77 0/1 99 33 24 9 0.27 intronic rs9630428 TLN2 AU NM_015059 exon13 c.51557+144C>T 0.394968 0.2748 Uncertain 15_62994428_G->C 15 62994428 62994428 G C snp 227.84 1/1 18 7 0 7 1.0 intronic rs12594220 TLN2 AU NM_015059 exon15 c.54890+29G>C 0.8123 0.9623 0.834003 0.9024 0.9576 Uncertain 15_62994762_A->C 15 62994762 62994762 A C snp 50.74 1/1 6 2 0 2 1.0 intronic rs12908055 TLN2 AU NM_015059 exon16 c.55455-202A>C 0.922724 0.9653 Uncertain 15_62994784_C->T 15 62994784 62994784 C T snp 68.77 0/1 97 10 6 4 0.4 intronic rs67465793 TLN2 AU NM_015059 exon16 c.55455-180C>T 0.363818 0.6865 Uncertain 15_62994814_G->A 15 62994814 62994814 G A snp 444.77 0/1 99 32 17 15 0.47 intronic rs56013393 TLN2 AU NM_015059 exon16 c.55455-150G>A 0.170727 0.2222 Uncertain 15_62994928_G->A 15 62994928 62994928 G A snp 1070.77 0/1 99 110 59 51 0.46 intronic rs12908653 TLN2 AU NM_015059 exon16 c.55455-36G>A 0.366613 0.6875 0.301784 0.3521 0.6691 Uncertain 15_63009733_A->G 15 63009733 63009733 A G snp 2480.77 1/1 99 82 0 82 1.0 intronic rs938983 TLN2 AU NM_015059 exon21 c.70265-41A>G 0.788538 0.9653 0.776022 0.7836 0.9359 Uncertain 15_63009804_C->T 15 63009804 63009804 C T snp 4108.77 1/1 99 147 0 147 1.0 exonic rs1320191 TLN2 AU synonymous SNV NM_015059 exon21 c.C2793T p.A931A 0.739816 0.9544 0.722838 0.8404 0.9459 Uncertain 15_63014548_A->G 15 63014548 63014548 A G snp 2100.77 1/1 99 82 0 82 1.0 splicing rs10775181 TLN2 AU NM_015059 exon23 c.75042-3A>G 0.855831 0.9702 0.848608 0.9326 0.9596 Pathogenic 15_63019111_G->A 15 63019111 63019111 G A snp 218.84 1/1 18 6 0 6 1.0 intronic rs28644392 TLN2 AU NM_015059 exon25 c.79776-174G>A 0.249401 0.2937 Uncertain 15_63030398_T->C 15 63030398 63030398 T C snp 4397.77 1/1 99 166 1 165 0.99 intronic rs12900862 TLN2 AU NM_015059 exon27 c.90903-14T>C 0.982428 1 0.982316 0.9950 1 Uncertain 15_63044379_A->G 15 63044379 63044379 A G snp 2293.77 1/1 99 70 0 70 1.0 intronic rs7171264 TLN2 AU NM_015059 exon32 c.104994-124A>G 0.955671 1 Uncertain 15_63044477_G->A 15 63044477 63044477 G A snp 2642.77 0/1 99 230 114 116 0.5 intronic rs77392958 TLN2 AU NM_015059 exon32 c.104994-26G>A 0.0081869 0.0298 0.000231 0.0044 0.0401 ID=COSN164972;OCCURENCE=1(breast) Uncertain 15_63047793_C->T 15 63047793 63047793 C T snp 4798.77 1/1 99 180 0 180 1.0 exonic rs4775538 TLN2 AU synonymous SNV NM_015059 exon34 c.C4539T p.I1513I 0.231629 0.3442 0.214209 0.2215 0.2890 Uncertain 15_63054439_C->G 15 63054439 63054439 C G snp 445.77 0/1 99 61 39 22 0.36 intronic rs2030040 TLN2 AU NM_015059 exon36 c.114961-31C>G 0.563299 0.4921 0.625942 0.6310 0.5400 Uncertain 15_63055658_T->A 15 63055658 63055658 T A snp 684.77 1/1 51 18 0 18 1.0 intronic rs10152548 TLN2 AU NM_015059 exon37 c.116252-103T>A 0.979832 1 Uncertain 15_63075919_TCTGTG->- 15 63075919 63075924 TCTGTG - indel 2761.73 1/1 96 32 0 32 1.0 intronic rs111436593 TLN2 AU NM_015059 exon42 c.136460-50_136460-45delTCTGTG Uncertain 15_63111739_T->C 15 63111739 63111739 T C snp 3450.77 0/1 99 250 121 129 0.52 exonic rs3816988 TLN2 AU nonsynonymous SNV NM_015059 exon50 c.T6796C p.F2266L 0.161941 0.0615 0.178610 0.1640 0.0754 0.39 T 0.000 P -1.074 T 0.0 T 0.0 T Pathogenic 15_63127983_G->A 15 63127983 63127983 G A snp 1709.77 0/1 99 208 127 81 0.39 exonic rs8038919 TLN2 AU synonymous SNV NM_015059 exon53 c.G7176A p.Q2392Q 0.0972444 0.0873 0.090112 0.1097 0.0994 Uncertain 15_63131117_T->A 15 63131117 63131117 T A snp 3906.77 1/1 99 137 0 137 1.0 exonic rs937418 TLN2 AU synonymous SNV NM_015059 exon55 c.T7437A p.A2479A 0.423522 0.2907 0.348070 0.3084 0.3238 Uncertain 15_63131237_-->AG 15 63131237 63131237 - AG indel 2143.73 1/1 99 57 0 57 1.0 intronic rs10679176 TLN2 AU NM_015059 exon55 c.191671+57insAG 0.41234 0.2966 Uncertain 15_63340292_C->T 15 63340292 63340292 C T snp 224.84 1/1 18 6 0 6 1.0 intronic rs4075584 TPM1 AD NM_001018004 exon2 c.1323+3941C>T 0.872804 0.994 Uncertain 15_63340416_A->G 15 63340416 63340416 A G snp 597.77 0/1 99 64 36 28 0.44 intronic rs73431508 TPM1 AD NM_001018004 exon2 c.1323+4065A>G 0.22504 0.4415 0.2609 0.3788 Uncertain 15_63340607_T->C 15 63340607 63340607 T C snp 725.77 0/1 99 46 18 28 0.61 intronic rs4075047 TPM1 AD NM_001018004 exon2 c.1323+4256T>C 0.22504 0.4415 0.4184 0 0.45 T 0.000 P -0.905 T Uncertain 15_63340647_A->G 15 63340647 63340647 A G snp 779.77 1/1 57 27 0 27 1.0 intronic rs4374117 TPM1 AD NM_001018004 exon2 c.1323+4296A>G 0.99361 1 1 1 0.99 T 0.000 P -0.957 T Uncertain 15_63340705_C->T 15 63340705 63340705 C T snp 626.77 0/1 99 30 5 25 0.83 intronic rs111470259 TPM1 AD NM_001018004 exon2 c.1323+4354C>T 0.210863 0.4345 0.3746 0.5375 Uncertain 15_63340989_-->G 15 63340989 63340989 - G indel 1498.73 0/1 99 98 47 51 0.52 intronic rs148517607 TPM1 AD NM_001018008 exon1 c.132+83insG 0.226837 0.4415 0.2806 0.4083 Uncertain 15_63340990_C->T 15 63340990 63340990 C T snp 1047.77 0/1 99 95 48 47 0.49 intronic rs117389407 TPM1 AD NM_001018008 exon1 c.132+84C>T 0.226837 0.4415 0.2823 0.4083 Uncertain 15_63349096_G->A 15 63349096 63349096 G A snp 2934.77 1/1 99 100 0 100 1.0 intronic rs4775613 TPM1 AD NM_001018004 exon3 c.14155-87G>A 0.475639 0.5496 Uncertain 15_63351687_A->G 15 63351687 63351687 A G snp 2078.77 1/1 99 75 0 75 1.0 intronic rs4775614 TPM1 AD NM_001018004 exon4 c.16733-74A>G 0.861422 0.996 Uncertain 15_63351840_C->A 15 63351840 63351840 C A snp 2427.77 1/1 99 89 1 88 0.99 exonic rs1071646 TPM1 AD synonymous SNV NM_001018005 exon4 c.C453A p.A151A 0.705671 0.9504 0.635707 0.6737 0.9575 CLINSIG=untested|non-pathogenic|non-pathogenic;CLNDBN=not_provided|not_specified|Cardiomyopathy;CLNREVSTAT=no_assertion_provided|criteria_provided\x2c_single_submitter|criteria_provided\x2c_single_submitter;CLNACC=RCV000024584.3|RCV000036332.2|RCV000157717.1;CLNDSDB=MedGen|MedGen|MedGen;CLNDSDBID=CN221809|CN169374|CN001491 Uncertain 15_63353760_C->A 15 63353760 63353760 C A snp 1648.77 1/1 99 49 0 49 1.0 intronic rs4774472 TPM1 AD NM_001018004 exon6 c.18883-151C>A 0.848043 0.996 Uncertain 15_63363401_-->ATTTT 15 63363401 63363401 - ATTTT indel 1776.73 1/1 99 35 0 35 1.0 UTR3 rs201620283 TPM1 AD 0.32528 0.3978 0.3422 0.5528 Uncertain 15_63413997_C->T 15 63413997 63413997 C T snp 647.77 1/1 48 21 0 21 1.0 upstream rs8182083 LACTB AU 0.999601 1 Uncertain 15_63414083_A->C 15 63414083 63414083 A C snp 1619.77 1/1 99 60 0 60 1.0 exonic rs34317102 LACTB AU nonsynonymous SNV NM_001288585 exon1 c.A13C p.M5L 0.794928 0.997 0.773217 0.8074 0.9965 1 T 0.0 P -0.969 T 0.0 T 0.0 T Pathogenic 15_63433766_G->A 15 63433766 63433766 G A snp 6114.77 1/1 99 206 0 206 1.0 exonic rs2729835 LACTB AU nonsynonymous SNV NM_032857 exon6 c.G1406A p.R469K 0.709864 0.9891 0.648624 0.6840 0.9907 1 T 1.0 P -0.954 T 0.0 T 0.0 T Pathogenic 15_63434110_C->T 15 63434110 63434110 C T snp 610.77 1/1 48 16 0 16 1.0 UTR3 rs8468 LACTB AU 0.745807 0.9891 Uncertain 15_63446200_AAAATT->- 15 63446200 63446205 AAAATT - indel 2093.73 0/1 99 54 27 27 0.5 UTR3 rs398102529 RPS27L AU 0.226637 0.4633 0.109650 0.1559 0.4715 Uncertain 15_63446332_C->T 15 63446332 63446332 C T snp 292.77 0/1 99 27 15 12 0.44 intronic rs35018260 RPS27L AU NM_015920 exon1 c.29+73C>T 0.196286 0.4623 Uncertain 15_63448780_C->G 15 63448780 63448780 C G snp 648.77 0/1 99 69 41 28 0.41 intronic rs2270948 RPS27L AU NM_015920 exon3 c.2490+60C>G 0.226038 0.4613 0.2029 0.5131 Uncertain 15_63449777_G->A 15 63449777 63449777 G A snp 373.77 0/1 99 37 21 16 0.43 upstream rs12902921 RPS27L AU 0.226438 0.4613 Uncertain 15_63515319_-->TTT 15 63515319 63515319 - TTT indel 796.73 0/1 99 35 18 17 0.49 intronic rs397825780 RAB8B AU NM_016530 exon2 c.55131-21635insTTT Uncertain 15_63515946_A->G 15 63515946 63515946 A G snp 293.77 0/1 99 15 4 11 0.73 intronic rs11632192 RAB8B AU NM_016530 exon2 c.55131-21008A>G 0.29972 0.3433 Uncertain 15_63516266_G->C 15 63516266 63516266 G C snp 555.77 0/1 99 36 18 18 0.5 intronic rs17828874 RAB8B AU NM_016530 exon2 c.55131-20688G>C 0.29972 0.3433 Uncertain 15_63548787_G->A 15 63548787 63548787 G A snp 1300.77 0/1 99 96 47 49 0.51 exonic rs10851726 RAB8B AU synonymous SNV NM_016530 exon5 c.G408A p.G136G 0.274561 0.4663 0.138859 0.2132 0.4716 Uncertain 15_63555603_GAATACACATTTCACTA->- 15 63555603 63555619 GAATACACATTTCACTA - indel 1845.73 0/1 99 17 7 10 0.59 intronic rs3837732 RAB8B AU NM_016530 exon8 c.73902-122_73902-106delGAATACACATTTCACTA 0.233227 0.4653 Uncertain 15_63570340_T->A 15 63570340 63570340 T A snp 234.53 0/1 3 8 1 7 0.88 intronic rs11858705 APH1B AU NM_001145646 exon1 c.113+405T>A 0.457268 0.62 Uncertain 15_63570442_AA->- 15 63570442 63570443 AA - indel 1095.73 0/1 99 55 17 38 0.69 intronic rs142298628 APH1B AU NM_001145646 exon1 c.113+507_113+508delAA 0.3262 0.4828 Uncertain 15_63571279_-->T 15 63571279 63571279 - T indel 125.77 1/1 21 7 0 7 1.0 intronic rs35859954 APH1B AU NM_001145646 exon2 c.1537-80insT 0.382188 0.4831 Uncertain 15_63848805_C->G 15 63848805 63848805 C G snp 1401.77 1/1 99 58 0 58 1.0 intronic rs3751043 USP3 AU NM_006537 exon5 c.51927-60C>G 0.671925 0.2123 Uncertain 15_63958229_C->T 15 63958229 63958229 C T snp 2417.77 0/1 99 247 140 107 0.43 exonic rs149457868 HERC1 AR nonsynonymous SNV NM_003922 exon42 c.G8444A p.G2815E 0.00279553 0.0139 0.000080 0.0013 0.0186 0.37 T 1 D -1.143 T 0.641 T 0.551 P Pathogenic 15_64020073_C->T 15 64020073 64020073 C T snp 1251.77 1/1 90 50 0 50 1.0 intronic rs9920746 HERC1 AR NM_003922 exon62 c.118758+36C>T 0.978435 1 0.979523 0.9932 1 Uncertain 15_64039050_T->C 15 64039050 64039050 T C snp 387.77 0/1 99 33 15 18 0.55 intronic rs8034675 HERC1 AR NM_003922 exon67 c.137837-66T>C 0.363618 0.0754 Uncertain 15_64039879_G->A 15 64039879 64039879 G A snp 460.77 0/1 99 30 12 18 0.6 intronic rs11631436 HERC1 AR NM_003922 exon68 c.138643-43G>A 0.337859 0.0754 0.4556 0.0855 Uncertain 15_64048990_T->C 15 64048990 64048990 T C snp 224.77 0/1 99 20 10 10 0.5 intronic rs2271241 HERC1 AR NM_003922 exon74 c.147668+43T>C 0.362021 0.0754 0.545692 0.5150 0.0962 Uncertain 15_64050300_G->A 15 64050300 64050300 G A snp 244.77 0/1 99 22 12 10 0.45 intronic rs12912999 HERC1 AR NM_003922 exon75 c.149094-73G>A 0.635982 0.1052 Uncertain 15_64056437_T->C 15 64056437 64056437 T C snp 1218.77 0/1 99 100 49 51 0.51 intronic rs3764186 HERC1 AR NM_003922 exon76 c.155111+47T>C 0.361422 0.0754 0.525020 0.4744 0.0798 Uncertain 15_64215375_G->C 15 64215375 64215375 G C snp 6999.77 1/1 99 249 0 249 1.0 intronic rs4776669 DAPK2 AU NM_014326 exon4 c.16296-1639G>C 0.886981 0.998 0.9701 1 Uncertain 15_64283467_G->A 15 64283467 64283467 G A snp 309.77 0/1 99 41 27 14 0.34 intronic DAPK2 AU NM_014326 exon10 c.75235+7514G>A Uncertain 15_64283625_T->C 15 64283625 64283625 T C snp 451.77 1/1 33 17 0 17 1.0 intronic rs7168753 DAPK2 AU NM_014326 exon10 c.75235+7672T>C 0.938898 1 Uncertain 15_64365021_A->G 15 64365021 64365021 A G snp 294.78 1/1 24 9 0 9 1.0 UTR3 rs332254 FAM96A AU 0.960863 0.997 Uncertain 15_64365340_C->T 15 64365340 64365340 C T snp 1067.77 1/1 78 33 0 33 1.0 UTR3 rs4622459 FAM96A AU 0.483826 0.8294 Uncertain 15_64367775_T->C 15 64367775 64367775 T C snp 844.77 1/1 60 34 0 34 1.0 intronic rs332234 FAM96A AU NM_001289108 exon1 c.20+39T>C 0.917332 1 0.913565 0.9744 0.9999 Uncertain 15_64385851_T->C 15 64385851 64385851 T C snp 1508.77 1/1 99 46 0 46 1.0 exonic rs332259 FAM96A AU synonymous SNV NM_001014812 exon1 c.A117G p.E39E 0.916933 1 0.912348 0.9734 1 Uncertain 15_64410484_G->T 15 64410484 64410484 G T snp 1351.77 1/1 96 49 0 49 1.0 intronic rs2290117 SNX1 AU NM_001242933 exon3 c.22231+41G>T 0.632188 0.8125 0.716515 0.7030 0.8223 Uncertain 15_64418221_C->G 15 64418221 64418221 C G snp 1596.77 1/1 99 52 0 52 1.0 intronic rs2290119 SNX1 AU NM_148955 exon4 c.30065-56C>G 0.477037 0.8155 Uncertain 15_64418397_G->A 15 64418397 64418397 G A snp 3683.77 1/1 99 143 1 142 0.99 exonic rs1130603 SNX1 AU synonymous SNV NM_148955 exon4 c.G435A p.P145P 0.621805 0.8313 0.693834 0.6991 0.8334 Uncertain 15_64418483_C->T 15 64418483 64418483 C T snp 1646.77 1/1 99 57 0 57 1.0 intronic rs2290121 SNX1 AU NM_148955 exon4 c.30207+64C>T 0.63099 0.8145 Uncertain 15_64428657_G->A 15 64428657 64428657 G A snp 4610.77 1/1 99 174 1 173 0.99 intronic rs2290122 SNX1 AU NM_148955 exon11 c.40397+48G>A 0.630791 0.8135 0.707673 0.7010 0.8268 Uncertain 15_64438109_G->A 15 64438109 64438109 G A snp 123.78 0/1 27 5 1 4 0.8 intergenic SNX1 AU Uncertain 15_64445682_C->- 15 64445682 64445682 C - indel 1620.73 1/1 99 37 0 37 1.0 intronic rs34975001 SNX22 AU NM_024798 exon4 c.1564+144delC 0.474042 0.8175 Uncertain 15_64448365_C->T 15 64448365 64448365 C T snp 1336.77 1/1 99 45 1 44 0.98 UTR3 rs2253557 SNX22 AU 0.822085 0.9554 0.875980 0.8644 0.9632 Uncertain 15_64449169_G->A 15 64449169 64449169 G A snp 179.77 0/1 99 16 10 6 0.38 UTR3 rs2241995 SNX22 AU 0.00778754 0.0139 Uncertain 15_64480888_A->G 15 64480888 64480888 A G snp 82.28 1/1 9 3 0 3 1.0 intronic rs8032157 CSNK1G1 AU NM_022048 exon2 c.8524+8235A>G 0.193291 0.7688 Uncertain 15_64496612_A->- 15 64496612 64496612 A - indel 132.73 0/1 99 25 12 13 0.52 intronic rs530178397 CSNK1G1 AU NM_022048 exon4 c.32510-27delA 0.428914 0.4167 0.2367 0.1560 Uncertain 15_64675313_C->T 15 64675313 64675313 C T snp 275.8 1/1 21 13 0 13 1.0 intergenic rs11635527 KIAA0101 AU 0.777756 0.9534 Uncertain 15_64689883_G->T 15 64689883 64689883 G T snp 1345.77 0/1 99 132 71 61 0.46 exonic rs201199390 TRIP4 AR nonsynonymous SNV NM_016213 exon4 c.G484T p.A162S 0.000399361 0.002 0.0003 0.0036 0.73 T 0.999 D -1.012 T 0.552 P 0.064 P Pathogenic 15_64693149_-->T 15 64693149 64693149 - T indel 542.73 1/1 57 26 0 26 1.0 intronic rs11380356 TRIP4 AR NM_016213 exon5 c.12958+129insT 0.90635 0.998 Uncertain 15_64706259_G->A 15 64706259 64706259 G A snp 2341.77 1/1 99 80 0 80 1.0 intronic rs2046356 TRIP4 AR NM_016213 exon8 c.26221-24G>A 0.692093 0.9514 0.725127 0.8029 0.9550 Uncertain 15_64737225_G->A 15 64737225 64737225 G A snp 1210.77 1/1 87 44 0 44 1.0 exonic rs7167612 TRIP4 AR synonymous SNV NM_016213 exon12 c.G1596A p.E532E 0.817891 0.9524 0.864601 0.8884 0.9559 Uncertain 15_64742670_T->A 15 64742670 64742670 T A snp 337.78 1/1 27 11 0 11 1.0 intronic rs7172012 TRIP4 AR NM_016213 exon13 c.67133-4525T>A 0.817292 0.9524 Uncertain 15_64792071_C->T 15 64792071 64792071 C T snp 747.77 0/1 99 49 23 26 0.53 exonic rs201548582 ZNF609 AU synonymous SNV NM_015042 exon1 c.C453T p.R151R 0.000399361 0.002 0.0003 0.0035 Uncertain 15_64792532_G->T 15 64792532 64792532 G T snp 5104.77 1/1 99 175 0 175 1.0 intronic rs16948021 ZNF609 AU NM_015042 exon1 c.747+167G>T 0.0950479 0.3968 0.0238 0.4031 0 D 1.000 P -0.953 T 0.078 T 0.01 T Uncertain 15_64915106_C->T 15 64915106 64915106 C T snp 6143.77 1/1 99 219 0 219 1.0 exonic rs525878 ZNF609 AU synonymous SNV NM_015042 exon2 c.C828T p.P276P 0.980032 1 0.980929 0.9943 1 Uncertain 15_64915374_G->A 15 64915374 64915374 G A snp 86.77 0/1 30 4 1 3 0.75 intronic rs79213746 ZNF609 AU NM_015042 exon2 c.123633+123G>A 0.0131789 0.0635 Uncertain 15_65033311_C->T 15 65033311 65033311 C T snp 2010.77 1/1 99 71 0 71 1.0 intronic rs6494489 RBPMS2 AU 0.437101 0.8879 0.324419 Uncertain 15_65040928_C->T 15 65040928 65040928 C T snp 1054.77 1/1 78 33 0 33 1.0 intronic rs12911708 RBPMS2 AU NM_194272 exon3 c.7388+162C>T 0.744409 0.9563 Uncertain 15_65041044_C->A 15 65041044 65041044 C A snp 185.9 1/1 15 6 0 6 1.0 intronic rs6494492 RBPMS2 AU NM_194272 exon4 c.7820-154C>A 0.744409 0.9573 Uncertain 15_65041622_C->A 15 65041622 65041622 C A snp 3545.77 1/1 99 128 0 128 1.0 intronic rs6494493 RBPMS2 AU NM_194272 exon5 c.8251-7C>A 0.701677 0.9563 0.726273 0.8116 0.9584 Uncertain 15_65054562_-->G 15 65054562 65054562 - G indel 4862.73 1/1 99 116 0 116 1.0 intronic rs397965306 RBPMS2 AU NM_194272 exon7 c.10459+10725insG 1 1 0.999163 0.9997 1 Uncertain 15_65054571_-->G 15 65054571 65054571 - G indel 5208.73 1/1 99 129 0 129 1.0 intronic rs71133474 RBPMS2 AU NM_194272 exon7 c.10459+10734insG 1 1 0.999448 1.0000 0.9999 Uncertain 15_65108479_T->C 15 65108479 65108479 T C snp 2062.77 1/1 99 69 0 69 1.0 UTR3 rs8036568 PIF1 AU 0.273962 0.7669 0.129057 0.2034 0.7813 Uncertain 15_65113493_G->A 15 65113493 65113493 G A snp 7760.77 1/1 99 250 0 250 1.0 intronic rs1872592 PIF1 AU NM_001286496 exon8 c.4984+13G>A 0.604034 0.8829 0.517997 0.6170 0.8879 Uncertain 15_65116328_A->G 15 65116328 65116328 A G snp 576.77 1/1 42 22 0 22 1.0 exonic rs12899195 PIF1 AU synonymous SNV NM_025049 exon2 c.T207C p.F69F 0.990216 1 1 1 Uncertain 15_65153595_G->C 15 65153595 65153595 G C snp 462.77 1/1 36 16 0 16 1.0 intronic rs832885 PLEKHO2 AU NM_001195059 exon4 c.19460-80G>C 0.46865 0.751 Uncertain 15_65153690_G->A 15 65153690 65153690 G A snp 1205.77 1/1 90 45 0 45 1.0 exonic rs12595292 PLEKHO2 AU synonymous SNV NM_001195059 exon4 c.G249A p.K83K 0.280351 0.747 0.138316 0.2950 0.7824 Uncertain 15_65157085_-->C 15 65157085 65157085 - C indel 718.73 1/1 72 24 0 24 1.0 intronic rs11444627 PLEKHO2 AU NM_001195059 exon5 c.22882-12insC 0.293690 0.2880 0.7882 Uncertain 15_65157482_C->T 15 65157482 65157482 C T snp 6224.77 1/1 99 220 0 220 1.0 exonic rs2010875 PLEKHO2 AU nonsynonymous SNV NM_001195059 exon5 c.C718T p.P240S 0.303115 0.7589 0.152538 0.2283 0.7841 0.91 T 0.0 P -0.958 T 0.002 T 0.006 T Pathogenic 15_65204285_G->T 15 65204285 65204285 G T snp 582.77 0/1 99 65 36 29 0.45 intronic rs11071820 ANKDD1A AU NM_182703 exon1 c.34+122G>T 0.270767 0.1349 Uncertain 15_65208227_G->A 15 65208227 65208227 G A snp 2045.77 1/1 99 69 0 69 1.0 intronic rs1471834 ANKDD1A AU NM_182703 exon2 c.3970+128G>A 0.78115 0.9355 Uncertain 15_65209718_-->TGTC 15 65209718 65209718 - TGTC indel 1354.73 0/1 99 81 47 34 0.42 splicing rs3057940 ANKDD1A AU NM_182703 exon3 c.5584+5insTGTC 0.407548 0.2688 0.3838 0.1690 Pathogenic 15_65209818_A->G 15 65209818 65209818 A G snp 430.77 0/1 99 45 26 19 0.42 intronic rs2056496 ANKDD1A AU NM_182703 exon3 c.5584+105A>G 0.435104 0.2798 Uncertain 15_65209880_A->C 15 65209880 65209880 A C snp 354.78 1/1 27 11 0 11 1.0 intronic rs2056497 ANKDD1A AU NM_182703 exon3 c.5584+167A>C 0.86222 0.9782 Uncertain 15_65222875_T->C 15 65222875 65222875 T C snp 615.77 0/1 99 42 19 23 0.55 intronic rs7168400 ANKDD1A AU NM_182703 exon7 c.18890-144T>C 0.402157 0.7202 Uncertain 15_65235776_A->G 15 65235776 65235776 A G snp 1162.77 0/1 99 144 90 54 0.38 exonic rs34988193 ANKDD1A AU nonsynonymous SNV NM_182703 exon11 c.A1063G p.K355E 0.246206 0.127 0.286725 0.3165 0.1201 0.2 T 1.0 P -0.921 T 0.999 D 0.958 D Pathogenic 15_65235862_C->- 15 65235862 65235862 C - indel 471.73 0/1 99 52 29 23 0.44 intronic rs35136467 ANKDD1A AU NM_182703 exon11 c.31649+84delC 0.441094 0.1438 Uncertain 15_65236875_T->C 15 65236875 65236875 T C snp 532.77 0/1 99 62 39 23 0.37 exonic rs2414865 ANKDD1A AU synonymous SNV NM_182703 exon12 c.T1092C p.A364A 0.552915 0.3909 0.547070 0.5024 0.4099 Uncertain 15_65242260_C->T 15 65242260 65242260 C T snp 781.77 0/1 99 60 27 33 0.55 intronic rs67821096 ANKDD1A AU NM_182703 exon14 c.38064+67C>T 0.261382 0.127 Uncertain 15_65268979_C->G 15 65268979 65268979 C G snp 314.78 1/1 24 10 0 10 1.0 intronic rs4776255 SPG21 AR NM_016630 exon6 c.12933+86C>G 0.987021 1 Uncertain 15_65273399_T->C 15 65273399 65273399 T C snp 430.77 0/1 99 52 29 23 0.44 intronic rs4776659 SPG21 AR NM_016630 exon7 c.17403+36T>C 0.546925 0.8611 0.503461 0.5519 0.8757 Uncertain 15_65298672_G->A 15 65298672 65298672 G A snp 423.77 1/1 33 12 1 11 0.92 intronic rs4776660 MTFMT AR NM_139242 exon3 c.3130+143G>A 0.949681 0.994 Uncertain 15_65308981_T->A 15 65308981 65308981 T A snp 671.77 0/1 99 54 33 21 0.39 intronic rs12912782 MTFMT AR NM_139242 exon4 c.13466+116T>A 0.438099 0.122 Uncertain 15_65315961_T->C 15 65315961 65315961 T C snp 807.77 0/1 99 58 30 28 0.48 intronic rs4776661 MTFMT AR NM_139242 exon7 c.20610-48T>C 0.388778 0.7014 0.346801 0.4116 0.6995 Uncertain 15_65344035_G->A 15 65344035 65344035 G A snp 672.77 1/1 51 21 0 21 1.0 intronic rs2946676 SLC51B AU NM_178859 exon3 c.1601+92G>A 0.914337 0.9851 Uncertain 15_65350743_C->G 15 65350743 65350743 C G snp 5073.77 1/1 99 189 0 189 1.0 intronic rs2232759 RASL12 AU NM_016563 exon2 c.3528-21C>G 0.357827 0.1984 0.398923 0.4212 0.1816 Uncertain 15_65350968_T->A 15 65350968 65350968 T A snp 2145.77 1/1 99 77 0 77 1.0 intronic rs2232758 RASL12 AU NM_016563 exon2 c.3719+13T>A 0.357428 0.1984 0.397692 0.4302 0.1853 Uncertain 15_65351484_C->G 15 65351484 65351484 C G snp 261.8 1/1 21 7 0 7 1.0 intronic rs7175752 RASL12 AU NM_016563 exon3 c.4446-198C>G 0.355032 0.2004 Uncertain 15_65357434_C->T 15 65357434 65357434 C T snp 478.77 1/1 36 14 0 14 1.0 intronic rs2232754 RASL12 AU NM_016563 exon4 c.10318-120C>T 0.344848 0.2321 Uncertain 15_65357491_G->A 15 65357491 65357491 G A snp 1211.77 1/1 90 40 0 40 1.0 intronic rs2232753 RASL12 AU NM_016563 exon4 c.10318-63G>A 0.874002 0.9792 0.827707 Uncertain 15_65369951_A->G 15 65369951 65369951 A G snp 4038.77 1/1 99 154 0 154 1.0 exonic rs2919359 KBTBD13 AD synonymous SNV NM_001101362 exon1 c.A798G p.E266E 0.903754 0.9831 0.880464 0.8853 0.9808 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000117312.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 15_65370353_T->C 15 65370353 65370353 T C snp 7312.77 1/1 99 250 0 250 1.0 exonic rs2919360 KBTBD13 AD synonymous SNV NM_001101362 exon1 c.T1200C p.G400G 0.989417 1 0.989635 0.9961 1 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000117308.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 15_65370652_T->C 15 65370652 65370652 T C snp 842.77 1/1 63 25 0 25 1.0 UTR3 rs12901617 KBTBD13 AD 0.390775 0.253 Uncertain 15_65449169_C->T 15 65449169 65449169 C T snp 7365.77 1/1 99 249 0 249 1.0 intronic rs2946670 CLPX AU NM_006660 exon6 c.6021-12C>T 1 1 1.0000 1 Uncertain 15_65489128_C->T 15 65489128 65489128 C T snp 2632.77 1/1 99 97 0 97 1.0 exonic rs938952 CILP AU nonsynonymous SNV NM_003613 exon9 c.G3496A p.G1166S 0.805711 0.9921 0.731195 0.8218 0.9968 0.11 T 0.0 P -1.026 T 0.0 T 0.001 T Pathogenic 15_65489688_T->C 15 65489688 65489688 T C snp 8390.77 1/1 99 249 0 249 1.0 exonic rs2679117 CILP AU nonsynonymous SNV NM_003613 exon9 c.A2936G p.Q979R 0.991014 1 0.986079 0.9965 0.9994 1 T 0.0 P -0.921 T 0.0 T 0.0 T Pathogenic 15_65490901_T->C 15 65490901 65490901 T C snp 5618.77 1/1 99 197 0 197 1.0 exonic rs2679118 CILP AU nonsynonymous SNV NM_003613 exon9 c.A1723G p.K575E 0.991014 1 0.986233 0.9967 1 1 T 0.0 P -0.962 T 0.0 T 0.0 T Pathogenic 15_65621138_G->A 15 65621138 65621138 G A snp 3216.73 1/1 99 113 0 113 1.0 UTR3 rs11853777 IGDCC3 AU 0.61222 0.8482 Uncertain 15_65621441_C->A 15 65621441 65621441 C A snp 2009.77 1/1 99 68 0 68 1.0 exonic rs12907128 IGDCC3 AU nonsynonymous SNV NM_004884 exon14 c.G2251T p.V751L 0.614617 0.8482 0.526320 0.6094 0.8448 0.39 T 0.0 P -0.963 T 0.005 T 0.001 T Pathogenic 15_65621857_T->C 15 65621857 65621857 T C snp 3534.77 1/1 99 130 0 130 1.0 exonic rs509652 IGDCC3 AU synonymous SNV NM_004884 exon13 c.A2076G p.L692L 0.969649 1 0.960762 0.9818 1 Uncertain 15_65623124_-->TCTA 15 65623124 65623124 - TCTA indel 1885.73 1/1 93 38 0 38 1.0 intronic rs3058049 IGDCC3 AU NM_004884 exon5 c.1833+45insTCTA 0.507588 0.8839 0.355826 0.4950 0.8848 Uncertain 15_65624228_G->C 15 65624228 65624228 G C snp 4777.77 1/1 99 173 0 173 1.0 intronic rs686739 IGDCC3 AU NM_004884 exon8 c.3032-50G>C 0.952077 1 0.938077 0.9747 1 Uncertain 15_65667724_A->G 15 65667724 65667724 A G snp 973.77 1/1 72 31 0 31 1.0 exonic rs666623 IGDCC3 AU synonymous SNV NM_004884 exon2 c.T120C p.A40A 0.909145 0.8333 0.914231 0.9049 0.8387 Uncertain 15_65676617_T->C 15 65676617 65676617 T C snp 5963.77 1/1 99 206 0 206 1.0 exonic rs2292933 IGDCC4 AU synonymous SNV NM_020962 exon20 c.A3483G p.P1161P 0.520168 0.6687 0.459000 0.4649 0.6833 Uncertain 15_65676726_C->T 15 65676726 65676726 C T snp 4344.77 1/1 99 146 0 146 1.0 exonic rs33918653 IGDCC4 AU nonsynonymous SNV NM_020962 exon20 c.G3374A p.C1125Y 0.234026 0.4444 0.176538 0.2264 0.4599 0.05 T 0.887 P -0.916 T 0.981 D 0.592 D Pathogenic 15_65678141_A->T 15 65678141 65678141 A T snp 670.77 1/1 48 27 0 27 1.0 intronic rs7183130 IGDCC4 AU NM_020962 exon3 c.1822-27A>T 0.492212 0.6627 0.435836 0.4547 0.6797 Uncertain 15_65681801_G->A 15 65681801 65681801 G A snp 2811.77 1/1 99 101 0 101 1.0 intronic rs11071841 IGDCC4 AU NM_020962 exon7 c.5403+52G>A 0.192093 0.4167 0.142169 0.1708 0.4145 Uncertain 15_65685968_G->A 15 65685968 65685968 G A snp 552.77 1/1 42 14 0 14 1.0 intronic rs11638647 IGDCC4 AU NM_020962 exon11 c.9523+99G>A 0.256589 0.4137 Uncertain 15_65686583_T->- 15 65686583 65686583 T - indel 343.74 1/1 30 10 0 10 1.0 intronic rs80032863 IGDCC4 AU NM_020962 exon12 c.10402-165delT 0.176518 0.4137 Uncertain 15_65688558_-->T 15 65688558 65688558 - T indel 521.77 1/1 21 18 2 16 0.89 intronic rs35517676 IGDCC4 AU NM_020962 exon14 c.12155+57insT 0.489617 0.6617 0.5679 0.7959 Uncertain 15_65688791_T->G 15 65688791 65688791 T G snp 1269.77 1/1 93 44 0 44 1.0 intronic rs66699194 IGDCC4 AU NM_020962 exon14 c.12155+290T>G 0.193291 0.4206 Uncertain 15_65688824_C->G 15 65688824 65688824 C G snp 837.77 1/1 63 23 0 23 1.0 intronic rs1550028 IGDCC4 AU NM_020962 exon14 c.12155+323C>G 0.483626 0.6617 Uncertain 15_65693101_C->G 15 65693101 65693101 C G snp 1750.77 1/1 99 60 0 60 1.0 intronic rs655936 IGDCC4 AU NM_020962 exon16 c.16797-42C>G 0.190895 0.4484 0.099923 0.1119 0.4523 Uncertain 15_65715171_G->A 15 65715171 65715171 G A snp 764.77 1/1 54 32 0 32 1.0 exonic rs147704873 IGDCC4 AU synonymous SNV NM_020962 exon1 c.C30T p.R10R 0.314896 0.7133 0.6364 1 Uncertain 15_65756072_T->C 15 65756072 65756072 T C snp 3053.77 1/1 99 107 0 107 1.0 intronic rs3825891 DPP8 AU NM_017743 exon4 c.16877-26T>C 0.335064 0.7202 0.183154 0.2617 0.7235 Uncertain 15_65758868_A->T 15 65758868 65758868 A T snp 135.03 1/1 12 4 0 4 1.0 intronic rs7496335 DPP8 AU NM_017743 exon5 c.19794-147A>T 0.651358 0.8026 Uncertain 15_65758874_C->G 15 65758874 65758874 C G snp 176.9 1/1 15 5 0 5 1.0 intronic rs7496362 DPP8 AU NM_017743 exon5 c.19794-141C>G 0.50599 0.7569 Uncertain 15_65782451_-->T 15 65782451 65782451 - T indel 1457.73 1/1 99 33 0 33 1.0 intronic rs60062953 DPP8 AU NM_017743 exon13 c.43305-75insT 0.944489 0.9554 Uncertain 15_65804213_C->T 15 65804213 65804213 C T snp 216.84 1/1 18 7 0 7 1.0 intronic rs352478 DPP8 AU NM_017743 exon17 c.65411-419C>T 0.944289 0.9554 Uncertain 15_65804537_A->T 15 65804537 65804537 A T snp 216.84 1/1 18 7 0 7 1.0 intronic rs352477 DPP8 AU NM_017743 exon17 c.65411-95A>T 0.945887 0.9563 Uncertain 15_65804986_G->A 15 65804986 65804986 G A snp 1842.77 1/1 99 65 1 64 0.98 intronic rs9635366 DPP8 AU NM_017743 exon17 c.65681+84G>A 0.319888 0.7093 Uncertain 15_65822823_C->G 15 65822823 65822823 C G snp 1292.77 1/1 96 40 0 40 1.0 upstream rs422390 HACD3 AU 0.891573 0.9573 Uncertain 15_65847512_A->G 15 65847512 65847512 A G snp 56.74 1/1 6 2 0 2 1.0 intronic rs1630765 HACD3 AU NM_016395 exon3 c.24329+214A>G 0.947484 0.9583 Uncertain 15_65874368_-->A 15 65874368 65874368 - A indel 628.73 1/1 53 39 1 38 0.97 intronic rs398027699 VWA9 AU NM_001207058 exon2 c.2612+11insA 0.269768 0.6042 0.2727 0.5626 Uncertain 15_65876969_C->A 15 65876969 65876969 C A snp 1222.77 1/1 87 42 0 42 1.0 intronic rs2292114 VWA9 AU NM_001207058 exon3 c.5362-138C>A 0.0986422 0.4335 Uncertain 15_65902922_G->A 15 65902922 65902922 G A snp 1704.77 1/1 99 64 0 64 1.0 intronic rs6494529 VWA9 AU NM_001207058 exon12 c.31690-513G>A 0.672724 0.8185 Uncertain 15_65903398_G->A 15 65903398 65903398 G A snp 7758.77 1/1 99 250 0 250 1.0 intronic rs4366668 VWA9 AU NM_001207058 exon12 c.31690-37G>A 0.661342 0.8095 0.5259 0.8622 Uncertain 15_65916527_A->T 15 65916527 65916527 A T snp 3023.77 1/1 99 105 0 105 1.0 exonic rs3743171 SLC24A1 AR nonsynonymous SNV NM_004727 exon2 c.A109T p.T37S 0.314497 0.7232 0.159662 0.2522 0.7287 0.04 T 0.0 P -0.918 T 0.999 D 0.945 D Pathogenic 15_65935195_C->G 15 65935195 65935195 C G snp 224.84 1/1 18 6 0 6 1.0 intronic rs12101597 SLC24A1 AR NM_004727 exon5 c.20346-1569C>G 0.651558 0.8056 Uncertain 15_65959729_T->C 15 65959729 65959729 T C snp 2335.77 1/1 99 73 0 73 1.0 intronic rs12591647 DENND4A AU NM_005848 exon5 c.5598-57T>C 0.313898 0.7212 Uncertain 15_65960195_A->G 15 65960195 65960195 A G snp 135.03 1/1 12 5 0 5 1.0 intronic rs6494531 DENND4A AU NM_005848 exon6 c.6074-67A>G 0.651957 0.8046 Uncertain 15_65982629_C->- 15 65982629 65982629 C - indel 689.73 1/1 48 16 0 16 1.0 intronic rs34408949 DENND4A AU NM_005848 exon11 c.28564-123delC 0.311502 0.7202 Uncertain 15_65982677_A->G 15 65982677 65982677 A G snp 1610.77 1/1 99 51 0 51 1.0 intronic rs28513670 DENND4A AU NM_005848 exon11 c.28564-75A>G 0.311502 0.7202 Uncertain 15_65994034_T->C 15 65994034 65994034 T C snp 1136.77 1/1 84 35 0 35 1.0 intronic rs16948954 DENND4A AU NM_005848 exon15 c.39911-65T>C 0.315495 0.7252 Uncertain 15_65994602_A->G 15 65994602 65994602 A G snp 701.77 1/1 54 21 0 21 1.0 intronic rs28377658 DENND4A AU NM_005848 exon16 c.40454-40A>G 0.315495 0.7252 0.144625 0.2526 0.7559 Uncertain 15_65995082_C->G 15 65995082 65995082 C G snp 296.78 1/1 24 8 0 8 1.0 intronic rs16948959 DENND4A AU NM_005848 exon17 c.41022-128C>G 0.314297 0.7252 Uncertain 15_66007972_A->T 15 66007972 66007972 A T snp 695.77 1/1 51 22 0 22 1.0 intronic rs28687655 DENND4A AU NM_005848 exon19 c.53773+11A>T 0.426717 0.7688 0.261917 0.3570 0.7853 Uncertain 15_66010379_C->T 15 66010379 66010379 C T snp 978.77 1/1 72 28 0 28 1.0 intronic rs2060454 DENND4A AU NM_005848 exon20 c.56146+45C>T 0.307308 0.7222 0.151475 0.2569 0.7070 Uncertain 15_66011630_A->G 15 66011630 66011630 A G snp 319.78 1/1 24 15 0 15 1.0 ncRNA_exonic rs2060455 MIR4511 AU 0.314896 0.7232 0 . Uncertain 15_66023799_G->T 15 66023799 66023799 G T snp 3374.77 1/1 99 126 0 126 1.0 intronic rs28556680 DENND4A AU NM_005848 exon24 c.69791-180G>T 0.652756 0.8056 0.5325 0.8733 Uncertain 15_66025010_G->A 15 66025010 66025010 G A snp 646.77 1/1 48 20 0 20 1.0 intronic rs11071849 DENND4A AU NM_005848 exon25 c.70901-79G>A 0.671725 0.8194 Uncertain 15_66044604_A->T 15 66044604 66044604 A T snp 56.74 1/1 6 2 0 2 1.0 intronic rs8033741 DENND4A AU NM_005848 exon29 c.90528-112A>T 1 1 Uncertain 15_66206437_C->T 15 66206437 66206437 C T snp 50.74 1/1 6 2 0 2 1.0 intronic MEGF11 AU NM_032445 exon4 c.16040+126C>T 0.0760783 0.3313 Uncertain 15_66257408_T->C 15 66257408 66257408 T C snp 1352.77 1/1 96 51 0 51 1.0 exonic MEGF11 AU nonsynonymous SNV NM_032445 exon9 c.A950G p.H317R 0.989217 1 0.988132 0.9962 0.9999 0.81 T 0.000 P -0.996 T 0.0 T 0.001 T Pathogenic 15_66274690_T->C 15 66274690 66274690 T C snp 1274.77 1/1 93 49 1 48 0.98 exonic MEGF11 AU synonymous SNV NM_032445 exon6 c.A531G p.A177A 0.964856 1 0.972579 0.9963 1 Uncertain 15_66386853_G->A 15 66386853 66386853 G A snp 2426.77 1/1 99 95 0 95 1.0 intronic MEGF11 AU NM_032445 exon19 c.196561+21G>A 0.409145 0.2917 0.514825 0.5263 0.3408 Uncertain 15_66411441_C->T 15 66411441 66411441 C T snp 3521.77 1/1 99 126 1 125 0.99 exonic MEGF11 AU nonsynonymous SNV NM_032445 exon4 c.G284A p.S95N 0.427516 0.4762 0.355482 0.3789 0.4683 0.44 T 0.002 P -0.925 T 0.0 T 0.003 T Pathogenic 15_66416183_G->A 15 66416183 66416183 G A snp 457.77 0/1 99 42 26 16 0.38 intronic MEGF11 AU NM_032445 exon21 c.225965-53G>A 0.0772764 0.0873 Uncertain 15_66611067_T->G 15 66611067 66611067 T G snp 300.77 0/1 99 27 13 14 0.52 intronic rs12901738 DIS3L AU NM_133375 exon8 c.23521+111T>G 0.0421326 0.0446 Uncertain 15_66612965_T->C 15 66612965 66612965 T C snp 2667.77 0/1 99 213 100 113 0.53 exonic rs17851970 DIS3L AU synonymous SNV NM_001143688 exon9 c.T1221C p.N407N 0.187899 0.1855 0.204692 0.2421 0.1720 0.07 T 0.021 P -1.011 T Likely benign 15_66629403_C->A 15 66629403 66629403 C A snp 848.77 0/1 99 93 51 42 0.45 exonic rs3759786 TIPIN AU nonsynonymous SNV NM_001289986 exon7 c.G496T p.A166S 0.0702875 0.0645 0.113094 0.1276 0.0693 0.49 T 0.0 P -1.000 T 0.099 T 0.027 T Pathogenic 15_66644521_C->G 15 66644521 66644521 C G snp 1128.77 1/1 81 48 0 48 1.0 exonic rs9806123 TIPIN AU nonsynonymous SNV NM_017858 exon3 c.G158C p.R53P 0.983227 1 0.983154 0.9954 1 1 T 1.0 P -0.955 T 0.0 T 0.0 T Pathogenic 15_66679684_A->G 15 66679684 66679684 A G snp 1308.77 0/1 99 108 51 57 0.53 UTR5 rs77796976 MAP2K1 AU 0.0131789 0.0337 0.003782 0.0147 0.0779 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000080030.5;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 15_66729250_C->T 15 66729250 66729250 C T snp 1254.77 0/1 99 118 63 55 0.47 intronic rs16949939 MAP2K1 AU NM_002755 exon3 c.49545+20C>T 0.0191693 0.0099 0.016923 0.0272 0.0135 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000157670.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 15_66735551_C->T 15 66735551 66735551 C T snp 1811.77 1/1 99 65 0 65 1.0 intronic rs6494573 MAP2K1 AU NM_002755 exon4 c.55932-66C>T 0.855232 0.999 Uncertain 15_66735886_G->A 15 66735886 66735886 G A snp 37.77 0/1 66 4 2 2 0.5 intronic rs17201019 MAP2K1 AU NM_002755 exon4 c.56010+191G>A 0.103834 0.0665 Uncertain 15_66745890_G->A 15 66745890 66745890 G A snp 2018.77 1/1 99 77 0 77 1.0 intronic rs7169326 MAP2K1 AU NM_002755 exon5 c.57360+8845G>A 0.983227 1 0.9989 1 Uncertain 15_66793480_C->T 15 66793480 66793480 C T snp 678.77 0/1 99 46 22 24 0.52 intronic rs11071895 RPL4 AU NM_000968 exon4 c.1699+37C>T 0.927117 0.9335 0.883603 0.8681 0.9310 Uncertain 15_66793795_G->A 15 66793795 66793795 G A snp 681.77 0/1 99 68 38 30 0.44 exonic rs146070182 RPL4 AU synonymous SNV NM_000968 exon6 c.C594T p.N198N 0.0205671 0.0159 0.016854 0.0287 0.0237 Uncertain 15_66795980_A->G 15 66795980 66795980 A G snp 544.77 0/1 99 55 32 23 0.42 intronic rs8043062 RPL4 AU NM_000968 exon9 c.4123+113A>G 0.927117 0.9335 Uncertain 15_66806308_C->T 15 66806308 66806308 C T snp 2175.77 1/1 99 85 0 85 1.0 intronic rs4238406 ZWILCH AU NM_017975 exon3 c.8649-17C>T 0.996805 0.9851 0.9986 0.9814 Uncertain 15_66816183_C->G 15 66816183 66816183 C G snp 71.77 0/1 99 9 6 3 0.33 intronic rs6494579 ZWILCH AU NM_017975 exon8 c.18410+97C>G 0.913339 0.9335 Uncertain 15_66821174_G->C 15 66821174 66821174 G C snp 1203.77 0/1 99 150 96 54 0.36 intronic rs6494580 ZWILCH AU NM_017975 exon11 c.23513-15G>C 0.927117 0.9335 0.881000 0.8686 0.9313 Uncertain 15_66821250_A->G 15 66821250 66821250 A G snp 1850.77 0/1 99 208 120 88 0.42 exonic rs11071896 ZWILCH AU nonsynonymous SNV NM_001287822 exon10 c.A688G p.S230G 0.181709 0.1825 0.193231 0.2351 0.1687 1 T 0.017 P -0.976 T 0.0 T 0.0 T Pathogenic 15_66850204_A->G 15 66850204 66850204 A G snp 1060.77 0/1 99 92 45 47 0.51 exonic rs16953566 LCTL AU synonymous SNV NM_001278562 exon7 c.T259C p.L87L 0.0579073 0.0883 0.018615 0.0426 0.0810 Uncertain 15_66850362_C->T 15 66850362 66850362 C T snp 676.77 0/1 99 77 50 27 0.35 exonic rs1030986 LCTL AU nonsynonymous SNV NM_001278562 exon6 c.G199A p.A67T 0.058107 0.0893 0.018308 0.0430 0.0801 0.04 T 0.998 D -1.008 T 0.064 T 0.041 T Pathogenic 15_66856980_C->T 15 66856980 66856980 C T snp 3039.77 0/1 99 250 130 120 0.48 intronic rs112703933 LCTL AU NM_207338 exon12 c.16186-33C>T 0.100439 0.0893 0.059385 0.0551 0.0817 Uncertain 15_66857290_C->T 15 66857290 66857290 C T snp 96.28 1/1 9 3 0 3 1.0 intronic rs7403574 LCTL AU NM_207338 exon12 c.16350+113C>T 0.189497 0.129 Uncertain 15_66857804_G->A 15 66857804 66857804 G A snp 69.77 0/1 98 7 4 3 0.43 UTR5 rs74504977 LCTL AU 0.0221645 0.0119 Uncertain 15_66976149_G->T 15 66976149 66976149 G T snp 186.77 0/1 99 17 8 9 0.53 ncRNA_intronic rs2414910 LINC01169 AU 0.668131 0.7569 Uncertain 15_66976160_-->C 15 66976160 66976160 - C indel 273.73 0/1 99 21 11 10 0.48 ncRNA_intronic rs141334226 LINC01169 AU 0.0738818 0.0863 Uncertain 15_67003841_C->T 15 67003841 67003841 C T snp 879.77 1/1 66 27 0 27 1.0 intronic rs2245159 SMAD6 AD NM_005585 exon2 c.8409-164C>T 0.694089 0.5476 Uncertain 15_67073549_C->T 15 67073549 67073549 C T snp 3336.77 0/1 99 250 126 124 0.5 exonic rs12591946 SMAD6 AD synonymous SNV NM_005585 exon4 c.C1167T p.F389F 0.0413339 0.1766 0.001308 0.0158 0.1733 Uncertain 15_67212033_G->A 15 67212033 67212033 G A snp 119.77 0/1 99 7 3 4 0.57 intergenic rs16950345 SMAD6 AD 0.00319489 0.0159 Uncertain 15_67234251_A->G 15 67234251 67234251 A G snp 2505.77 1/1 99 87 0 87 1.0 intergenic rs266383 SMAD6 AD 0.984625 1 0.9992 1 Uncertain 15_67391395_T->- 15 67391395 67391395 T - indel 4170.73 1/1 99 101 0 101 1.0 intronic rs5813427 SMAD3 AD NM_005902 exon1 c.206+32697delT 0.972843 1 0.9982 1 Uncertain 15_67391497_C->A 15 67391497 67391497 C A snp 727.77 1/1 54 23 0 23 1.0 intronic rs1866319 SMAD3 AD NM_005902 exon1 c.206+32799C>A 0.97504 1 Uncertain 15_67430223_T->C 15 67430223 67430223 T C snp 792.77 1/1 60 21 0 21 1.0 intronic rs1866318 SMAD3 AD NM_005902 exon2 c.98740-27009T>C 0.965655 1 Uncertain 15_67435075_G->A 15 67435075 67435075 G A snp 1251.77 1/1 90 41 0 41 1.0 intronic rs745103 SMAD3 AD NM_001145103 exon1 c.74+4637G>A 0.475639 0.3899 0.6510 0.5 Uncertain 15_67457335_A->G 15 67457335 67457335 A G snp 2693.77 1/1 99 96 0 96 1.0 exonic rs1065080 SMAD3 AD synonymous SNV NM_005902 exon2 c.A309G p.L103L 0.834065 0.7619 0.880000 0.8635 0.7586 CLINSIG=non-pathogenic;CLNDBN=not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000128169.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Uncertain 15_67457485_G->C 15 67457485 67457485 G C snp 1850.77 0/1 99 134 66 68 0.51 intronic rs2289261 SMAD3 AD NM_001145103 exon2 c.27062+59G>C 0.514776 0.3571 Uncertain 15_67457850_G->A 15 67457850 67457850 G A snp 62.77 0/1 91 10 6 4 0.4 intronic rs2289259 SMAD3 AD NM_001145103 exon3 c.27358+128G>A 0.233027 0.2927 Uncertain 15_67459013_C->T 15 67459013 67459013 C T snp 86.77 0/1 30 4 1 3 0.75 intronic rs7179893 SMAD3 AD NM_001145103 exon4 c.28752-103C>T 0.228634 0.2877 Uncertain 15_67476952_G->T 15 67476952 67476952 G T snp 191.77 0/1 91 10 4 6 0.6 intronic rs2289791 SMAD3 AD NM_001145104 exon5 c.17895-112G>T 0.273962 0.4474 Uncertain 15_67476970_T->C 15 67476970 67476970 T C snp 207.77 0/1 99 13 6 7 0.54 intronic rs2289790 SMAD3 AD NM_001145104 exon5 c.17895-94T>C 0.271765 0.4464 Uncertain 15_67501033_G->A 15 67501033 67501033 G A snp 658.77 0/1 99 37 9 28 0.76 intronic rs2289262 AAGAB AD NM_024666 exon4 c.5838+37G>A 0.257788 0.4395 0.182617 0.2658 0.4827 Uncertain 15_67528374_T->G 15 67528374 67528374 T G snp 2632.77 0/1 99 241 121 120 0.5 exonic rs7173826 AAGAB AD nonsynonymous SNV NM_024666 exon4 c.A394C p.I132L 0.363419 0.6478 0.253895 0.3641 0.6598 0.8 T 0.999 P -0.999 T 0.019 T 0.019 T Pathogenic 15_67547301_C->A 15 67547301 67547301 C A snp 2849.77 0/1 99 237 122 115 0.49 intronic rs3743347 IQCH AU NM_022784 exon1 c.51+16C>A 0.258187 0.4365 0.174488 0.2553 0.4507 Uncertain 15_67571958_G->T 15 67571958 67571958 G T snp 213.77 0/1 99 16 9 7 0.44 intronic rs76782652 IQCH AU NM_022784 exon4 c.24616+108G>T 0.0261581 0.0278 Uncertain 15_67596815_T->G 15 67596815 67596815 T G snp 259.77 0/1 99 51 38 13 0.25 intronic rs10438290 IQCH AU NM_022784 exon5 c.49559+22T>G 0.622404 0.6587 0.688596 0.6837 0.6698 Uncertain 15_67652006_C->T 15 67652006 67652006 C T snp 144.77 0/1 99 13 7 6 0.46 intronic rs4319709 IQCH AU NM_001284349 exon5 c.15773-178C>T 0.0323482 0.0278 Uncertain 15_67652097_G->C 15 67652097 67652097 G C snp 1312.77 0/1 99 87 32 55 0.63 intronic rs3743349 IQCH AU NM_001284349 exon5 c.15773-87G>C 0.260184 0.4405 Uncertain 15_67677239_T->C 15 67677239 67677239 T C snp 2400.77 0/1 99 245 140 105 0.43 intronic rs3743350 IQCH AU NM_001284347 exon7 c.12822-34T>C 0.0189696 0.0933 0.000385 0.0064 0.0861 Uncertain 15_67692502_T->C 15 67692502 67692502 T C snp 5399.77 1/1 99 198 0 198 1.0 exonic rs7495023 IQCH AU synonymous SNV NM_001284347 exon9 c.T927C p.R309R 0.997804 1 0.997615 0.9993 1 Uncertain 15_67757764_T->C 15 67757764 67757764 T C snp 48.74 1/1 6 2 0 2 1.0 ncRNA_intronic rs2414957 IQCH-AS1 AU 0.85004 0.7817 Uncertain 15_67768151_G->C 15 67768151 67768151 G C snp 3189.78 1/1 99 121 0 121 1.0 exonic rs3985641 IQCH AU nonsynonymous SNV NM_001284347 exon13 c.G1765C p.V589L 0.997804 1 0.997462 0.9994 1 0.76 T 0.0 P -0.971 T 0.0 T 0.002 T Pathogenic 15_67782441_GGAAAT->- 15 67782441 67782446 GGAAAT - indel 10174.7 1/1 99 110 0 110 1.0 ncRNA_intronic rs10574862 IQCH-AS1 AU 0.838658 0.7718 0.869826 0.8505 0.7836 Uncertain 15_67813556_A->G 15 67813556 67813556 A G snp 164.77 0/1 99 17 11 6 0.35 ncRNA_intronic rs180737613 IQCH-AS1 AU 0.0183706 0.0744 Uncertain 15_67814542_G->A 15 67814542 67814542 G A snp 259.77 0/1 99 29 18 11 0.38 intronic rs62015089 C15orf61 AU NM_001143936 exon1 c.346+610G>A 0.182508 0.2212 0.0925 0.2015 Uncertain 15_67835909_A->G 15 67835909 67835909 A G snp 141.77 0/1 99 12 7 5 0.42 intronic rs117997171 MAP2K5 AU NM_002757 exon1 c.135+101A>G 0.00758786 0.0377 Uncertain 15_67842526_G->A 15 67842526 67842526 G A snp 646.77 0/1 99 64 40 24 0.38 intronic rs6494670 MAP2K5 AU NM_002757 exon2 c.6747+106G>A 0.18131 0.2183 Uncertain 15_67885058_T->C 15 67885058 67885058 T C snp 359.78 1/1 27 13 0 13 1.0 intronic rs28637534 MAP2K5 AU NM_002757 exon7 c.49590-205T>C 0.999601 1 Uncertain 15_67892766_C->T 15 67892766 67892766 C T snp 176.77 0/1 99 14 8 6 0.43 intronic rs3865018 MAP2K5 AU NM_002757 exon8 c.57349-256C>T 0.323882 0.4802 Uncertain 15_67892992_C->- 15 67892992 67892992 C - indel 4610.73 0/1 99 250 113 137 0.55 intronic rs60932739 MAP2K5 AU NM_002757 exon8 c.57349-30delC 0.178115 0.2173 0.145767 0.1132 0.2034 Uncertain 15_67951150_G->T 15 67951150 67951150 G T snp 2631.77 0/1 99 248 139 109 0.44 intronic rs12438118 MAP2K5 AU NM_002757 exon12 c.115279+198G>T 0.325479 0.506 0.3365 0.5533 Uncertain 15_67951229_A->- 15 67951229 67951229 A - indel 3427.73 1/1 99 135 2 133 0.99 intronic rs5813451 MAP2K5 AU NM_002757 exon12 c.115279+277delA 0.98143 1 Uncertain 15_67957065_T->A 15 67957065 67957065 T A snp 716.77 0/1 99 67 36 31 0.46 intronic rs80252004 MAP2K5 AU NM_002757 exon13 c.121310+82T>A 0.014377 0.0595 Uncertain 15_67962763_A->G 15 67962763 67962763 A G snp 783.77 0/1 99 51 20 31 0.61 intronic rs35395156 MAP2K5 AU NM_002757 exon13 c.121310+5780A>G 0.457268 0.2431 0.4769 0.2045 Uncertain 15_67984705_G->A 15 67984705 67984705 G A snp 4928.77 1/1 99 157 0 157 1.0 intronic rs4343227 MAP2K5 AU NM_002757 exon14 c.149143-111G>A 0.804513 0.75 Uncertain 15_67985931_T->C 15 67985931 67985931 T C snp 1145.77 1/1 84 41 0 41 1.0 intronic rs8034680 MAP2K5 AU NM_002757 exon15 c.150233+25T>C 0.998802 1 0.998922 0.9997 1 Uncertain 15_68041070_A->G 15 68041070 68041070 A G snp 810.77 1/1 60 22 0 22 1.0 intronic rs8037011 MAP2K5 AU NM_002757 exon18 c.205266+131A>G 0.978035 1 Uncertain 15_68116010_C->A 15 68116010 68116010 C A snp 370.77 0/1 99 48 27 21 0.44 intronic rs28399056 SKOR1 AU NM_001258024 exon3 c.4255-286C>A 0.396166 0.5962 Uncertain 15_68116400_C->A 15 68116400 68116400 C A snp 1671.77 0/1 99 132 64 68 0.52 intronic rs28675295 SKOR1 AU NM_001258024 exon3 c.4340+19C>A 0.395767 0.5962 0.3256 0.6139 Uncertain 15_68117300_T->A 15 68117300 68117300 T A snp 1528.77 0/1 99 102 45 57 0.56 exonic rs7170185 SKOR1 AU nonsynonymous SNV NM_001258024 exon4 c.T598A p.W200R 0.395966 0.5962 0.3115 0.6058 0 D 0.000 P -0.951 T Pathogenic 15_68118194_A->C 15 68118194 68118194 A C snp 594.77 0/1 99 56 34 22 0.39 intronic rs4776984 SKOR1 AU NM_001258024 exon5 c.6232-79A>C 0.411741 0.5982 Uncertain 15_68121428_T->A 15 68121428 68121428 T A snp 585.77 0/1 99 44 20 24 0.55 intronic rs28539889 SKOR1 AU NM_001258024 exon9 c.9475-88T>A 0.319688 0.5923 Uncertain 15_68121483_A->C 15 68121483 68121483 A C snp 1106.77 0/1 99 84 36 48 0.57 intronic rs7183168 SKOR1 AU NM_001258024 exon9 c.9475-33A>C 0.764776 0.9514 0.613157 0.7319 0.9570 Uncertain 15_68122509_T->C 15 68122509 68122509 T C snp 1144.77 0/1 99 111 58 53 0.48 intronic rs28587941 SKOR1 AU NM_001258024 exon10 c.10487-19T>C 0.416334 0.5952 0.281317 0.3224 0.6122 Uncertain 15_68123021_T->G 15 68123021 68123021 T G snp 197.77 0/1 97 9 3 6 0.67 intronic rs4776985 SKOR1 AU NM_001258024 exon11 c.11114-134T>G 0.416334 0.5952 Uncertain 15_68124804_A->G 15 68124804 68124804 A G snp 424.77 0/1 99 19 6 13 0.68 intronic SKOR1 AU NM_001258024 exon12 c.12645+118A>G Uncertain 15_68346549_T->C 15 68346549 68346549 T C snp 788.77 1/1 60 20 0 20 1.0 upstream rs11855475 PIAS1 AU 1 1 Uncertain 15_68434212_T->G 15 68434212 68434212 T G snp 372.77 0/1 99 32 19 13 0.41 intronic rs565537135 PIAS1 AU NM_016166 exon3 c.87619-71T>G 0.000798722 0.001 Uncertain 15_68445912_T->A 15 68445912 68445912 T A snp 881.77 1/1 66 38 2 36 0.95 intronic rs11633620 PIAS1 AU NM_016166 exon7 c.99263-15T>A 0.995008 1 0.994228 0.9983 1 Uncertain 15_68445914_-->T 15 68445914 68445914 - T indel 323.73 0/1 99 37 20 17 0.46 intronic rs201112127 PIAS1 AU NM_016166 exon7 c.99263-13insT 0.00638978 0.0308 0.001589 0.0046 0.0357 Uncertain 15_68468695_T->C 15 68468695 68468695 T C snp 560.77 1/1 42 15 0 15 1.0 intronic rs12438361 PIAS1 AU NM_016166 exon11 c.122147-116T>C 0.473842 0.8125 Uncertain 15_68583175_T->C 15 68583175 68583175 T C snp 7035.77 1/1 99 240 0 240 1.0 exonic rs6494729 FEM1B AU synonymous SNV NM_015322 exon2 c.T1479C p.N493N 0.999601 1 1.0000 1 Uncertain 15_68603625_C->T 15 68603625 68603625 C T snp 2081.77 1/1 99 71 0 71 1.0 splicing rs898591 ITGA11 AU NM_001004439 exon6 c.8231-2C>T 0.985423 1 0.989585 0.9948 0.9995 Pathogenic 15_68603921_G->A 15 68603921 68603921 G A snp 80.77 0/1 48 5 2 3 0.6 intronic ITGA11 AU NM_001004439 exon6 c.8345+180G>A Uncertain 15_68605067_A->C 15 68605067 68605067 A C snp 353.78 1/1 27 12 0 12 1.0 intronic rs4776394 ITGA11 AU NM_001004439 exon7 c.9714-43A>C 0.464457 0.7788 0.356123 0.4768 0.7590 Uncertain 15_68605169_G->A 15 68605169 68605169 G A snp 1403.77 1/1 99 50 0 50 1.0 exonic rs4777035 ITGA11 AU nonsynonymous SNV NM_001004439 exon24 c.C2915T p.P972L 0.716454 0.9375 0.590049 0.6733 0.9348 0.2 T 1.000 P -1.090 T 0.836 T 0.794 P Pathogenic 15_68609833_T->C 15 68609833 68609833 T C snp 741.77 1/1 57 20 0 20 1.0 intronic rs1516871 ITGA11 AU NM_001004439 exon10 c.14305+132T>C 0.95008 0.9435 Uncertain 15_68612556_T->C 15 68612556 68612556 T C snp 2967.77 0/1 99 250 133 117 0.47 exonic rs2271724 ITGA11 AU synonymous SNV NM_001004439 exon20 c.A2583G p.S861S 0.199081 0.5595 0.042643 0.1072 0.5610 Uncertain 15_68618961_T->C 15 68618961 68618961 T C snp 1668.77 1/1 99 66 0 66 1.0 intronic rs2271722 ITGA11 AU NM_001004439 exon14 c.23595-30T>C 0.65655 0.8016 0.636151 0.7774 0.8360 Uncertain 15_68624175_C->T 15 68624175 68624175 C T snp 1879.77 1/1 99 58 0 58 1.0 intronic rs7167822 ITGA11 AU NM_001004439 exon17 c.28800-21C>T 0.632788 0.8016 0.610621 0.7574 0.8407 Uncertain 15_68624290_G->A 15 68624290 68624290 G A snp 2577.77 0/1 99 248 131 117 0.47 exonic rs2292745 ITGA11 AU synonymous SNV NM_001004439 exon14 c.C1677T p.D559D 0.272764 0.5079 0.123594 0.2369 0.5385 Uncertain 15_68624396_A->C 15 68624396 68624396 A C snp 4923.77 1/1 99 175 0 175 1.0 exonic rs7168069 ITGA11 AU nonsynonymous SNV NM_001004439 exon14 c.T1571G p.L524R 0.897564 0.9147 0.845429 0.8664 0.9191 1 T 0.0 P -1.000 T 0.0 T 0.0 T Pathogenic 15_68624641_A->C 15 68624641 68624641 A C snp 7300.77 1/1 99 250 0 250 1.0 intronic rs6494733 ITGA11 AU NM_001004439 exon18 c.29279-34A>C 0.896166 0.9157 0.845327 0.8579 0.9156 Uncertain 15_68628143_C->T 15 68628143 68628143 C T snp 4126.77 1/1 99 151 0 151 1.0 exonic rs2306023 ITGA11 AU synonymous SNV NM_001004439 exon12 c.G1317A p.R439R 0.645966 0.7956 0.641272 0.7642 0.8188 Uncertain 15_68631740_A->G 15 68631740 68631740 A G snp 560.77 1/1 42 15 0 15 1.0 intronic rs2125998 ITGA11 AU NM_001004439 exon20 c.36441-97A>G 0.86901 0.9107 Uncertain 15_68641363_G->- 15 68641363 68641363 G - indel 1080.73 1/1 96 39 0 39 1.0 intronic rs398027775 ITGA11 AU NM_001004439 exon21 c.45842+125delG 0.992212 1 Uncertain 15_68649587_G->A 15 68649587 68649587 G A snp 3414.77 1/1 99 126 0 126 1.0 exonic rs12907890 ITGA11 AU synonymous SNV NM_001004439 exon7 c.C651T p.N217N 0.877796 1 0.791138 0.8172 0.9988 Uncertain 15_68656864_A->G 15 68656864 68656864 A G snp 229.84 1/1 18 8 0 8 1.0 intronic rs2306013 ITGA11 AU NM_001004439 exon27 c.61648-180A>G 0.925919 0.9812 Uncertain 15_68656960_A->G 15 68656960 68656960 A G snp 1651.77 1/1 99 60 0 60 1.0 intronic rs2306012 ITGA11 AU NM_001004439 exon27 c.61648-84A>G 0.925719 0.9812 Uncertain 15_68695448_T->C 15 68695448 68695448 T C snp 2624.77 1/1 99 85 0 85 1.0 intronic rs4777049 ITGA11 AU NM_001004439 exon29 c.99972+80T>C 0.45607 0.5536 Uncertain 15_68724262_G->C 15 68724262 68724262 G C snp 1389.77 1/1 99 55 0 55 1.0 intronic rs2305078 ITGA11 AU NM_001004439 exon30 c.128957-91G>C 0.859824 0.9603 Uncertain 15_68937441_C->T 15 68937441 68937441 C T snp 679.77 0/1 99 38 16 22 0.58 intronic rs2291534 CORO2B AU NM_006091 exon2 c.65897-57C>T 0.167931 0.0635 Uncertain 15_68987315_A->C 15 68987315 68987315 A C snp 354.78 1/1 27 10 0 10 1.0 intronic rs11072043 CORO2B AU NM_001190456 exon3 c.49980-163A>C 0.927516 1 Uncertain 15_68987341_A->G 15 68987341 68987341 A G snp 813.77 1/1 60 24 0 24 1.0 intronic rs7359311 CORO2B AU NM_001190456 exon3 c.49980-137A>G 0.878395 1 Uncertain 15_69003788_G->A 15 69003788 69003788 G A snp 227.77 0/1 99 11 4 7 0.64 intronic rs71402285 CORO2B AU NM_001190456 exon5 c.66382-92G>A 0.130391 0.1399 Uncertain 15_69003871_G->T 15 69003871 69003871 G T snp 914.77 0/1 99 91 53 38 0.42 intronic rs3736272 CORO2B AU NM_001190456 exon5 c.66382-9G>T 0.64976 0.8601 0.597645 0.7254 0.8716 Uncertain 15_69007656_T->G 15 69007656 69007656 T G snp 6022.77 1/1 99 215 1 214 1.0 splicing rs1542746 CORO2B AU NM_001190456 exon8 c.70152+6T>G 0.926118 1 0.915666 0.9552 0.9998 Pathogenic 15_69011119_C->T 15 69011119 69011119 C T snp 1306.77 0/1 99 99 49 50 0.51 exonic rs33913544 CORO2B AU synonymous SNV NM_001190456 exon9 c.C1035T p.I345I 0.125799 0.0496 0.188596 0.1791 0.0558 Uncertain 15_69011255_A->G 15 69011255 69011255 A G snp 463.77 1/1 36 12 0 12 1.0 intronic rs1491641 CORO2B AU NM_001190456 exon9 c.73651+106A>G 0.80651 0.9117 Uncertain 15_69011389_A->C 15 69011389 69011389 A C snp 3265.77 ./1 99 115 0 115 1.0 intronic rs1491640 CORO2B AU NM_001190456 exon10 c.73984-93A>C 0.688498 0.8641 Uncertain 15_69011389_A->G 15 69011389 69011389 A G snp 3265.77 ./1 99 115 0 115 1.0 intronic rs1491640 CORO2B AU NM_001190456 exon10 c.73984-93A>G 0.126597 0.0496 Uncertain 15_69011394_C->T 15 69011394 69011394 C T snp 3759.77 1/1 99 125 0 125 1.0 intronic rs1491639 CORO2B AU NM_001190456 exon10 c.73984-88C>T 0.815096 0.9137 Uncertain 15_69094044_G->A 15 69094044 69094044 G A snp 909.77 0/1 99 54 20 34 0.63 intronic rs77243084 ANP32A AU NM_006305 exon6 c.7839+13786G>A 0.0397364 0.0863 Uncertain 15_69094079_A->T 15 69094079 69094079 A T snp 824.77 0/1 99 88 51 37 0.42 intronic rs12904108 ANP32A AU NM_006305 exon6 c.7839+13821A>T 0.254792 0.1637 Uncertain 15_69094158_-->CA 15 69094158 69094158 - CA indel 2172.73 0/1 99 115 58 57 0.5 intronic rs10689979 ANP32A AU NM_006305 exon6 c.7839+13900insCA 0.423722 0.2242 0.4162 0.1935 Uncertain 15_69112946_C->A 15 69112946 69112946 C A snp 181.77 0/1 99 14 8 6 0.43 intronic rs4777089 ANP32A AU NM_006305 exon7 c.40617-90C>A 0.922524 0.9038 Uncertain 15_69112971_-->CA 15 69112971 69112971 - CA indel 413.73 0/1 99 30 16 14 0.47 intronic rs35802209 ANP32A AU NM_006305 exon7 c.40617-65insCA 0.584665 0.619 Uncertain 15_69325581_C->T 15 69325581 69325581 C T snp 4583.77 1/1 99 169 0 169 1.0 exonic rs311893 NOX5 AU synonymous SNV NM_001184779 exon5 c.C735T p.C245C 0.806709 0.7381 0.861432 0.9117 0.7545 Uncertain 15_69327825_C->T 15 69327825 69327825 C T snp 6012.77 1/1 99 231 0 231 1.0 exonic rs311889 NOX5 AU synonymous SNV NM_001184779 exon6 c.C903T p.T301T 0.80651 0.7391 0.859495 0.9072 0.7530 Uncertain 15_69327998_C->T 15 69327998 69327998 C T snp 244.8 1/1 21 7 0 7 1.0 ncRNA_intronic rs2277554 MIR548H4 AU 0.695687 0.5635 Uncertain 15_69328226_C->T 15 69328226 69328226 C T snp 981.77 0/1 99 107 62 45 0.42 exonic rs12907196 NOX5 AU nonsynonymous SNV NM_001184779 exon7 c.C1054T p.L352F 0.271166 0.124 0.425362 0.4233 0.1238 0.12 T 0.995 P -1.022 T 0.975 D 0.791 D Pathogenic 15_69329623_G->A 15 69329623 69329623 G A snp 538.77 0/1 99 28 9 19 0.68 ncRNA_intronic rs34924807 MIR548H4 AU 0.27496 0.124 Uncertain 15_69329624_A->G 15 69329624 69329624 A G snp 880.77 1/1 66 26 0 26 1.0 ncRNA_intronic rs2246273 MIR548H4 AU 0.974042 1 Uncertain 15_69335193_A->G 15 69335193 69335193 A G snp 704.77 0/1 99 49 22 27 0.55 ncRNA_intronic rs74761564 MIR548H4 AU 0.0155751 0.0734 0.000770 0.0078 0.0926 Uncertain 15_69347593_G->A 15 69347593 69347593 G A snp 1339.77 1/1 99 41 0 41 1.0 ncRNA_intronic rs311905 MIR548H4 AU 0.809704 0.7411 Uncertain 15_69349087_T->C 15 69349087 69349087 T C snp 799.77 1/1 57 30 0 30 1.0 ncRNA_intronic rs311906 MIR548H4 AU 0.973842 1 0.969452 0.9904 0.9999 Uncertain 15_69553728_C->A 15 69553728 69553728 C A snp 1171.77 0/1 99 79 37 42 0.53 intronic rs8023271 GLCE AU NM_015554 exon4 c.5523+60C>A 0.125399 0.1577 Uncertain 15_69561518_G->A 15 69561518 69561518 G A snp 5428.77 1/1 99 192 1 191 0.99 exonic rs3865014 GLCE AU nonsynonymous SNV NM_015554 exon5 c.G1789A p.V597I 0.667332 0.7411 0.673284 0.7379 0.7445 1 T 0.0 P -1.000 T 0.0 T 0.001 T Pathogenic 15_69676892_A->G 15 69676892 69676892 A G snp 510.77 1/1 39 14 0 14 1.0 intronic rs11632206 PAQR5 AU NM_017705 exon5 c.24596-123A>G 0.76857 0.6905 Uncertain 15_69676904_C->T 15 69676904 69676904 C T snp 587.77 1/1 48 19 0 19 1.0 intronic rs59560663 PAQR5 AU NM_017705 exon5 c.24596-111C>T 0.852436 0.7937 Uncertain 15_69676944_T->C 15 69676944 69676944 T C snp 1708.77 1/1 99 50 0 50 1.0 intronic rs11637493 PAQR5 AU NM_017705 exon5 c.24596-71T>C 0.747204 0.6815 Uncertain 15_69683945_C->G 15 69683945 69683945 C G snp 5036.77 1/1 99 191 2 189 0.99 intronic rs2242464 PAQR5 AU NM_017705 exon6 c.29700+1826C>G 0.787939 0.6825 0.9491 0.7045 Uncertain 15_69684376_G->A 15 69684376 69684376 G A snp 1279.77 1/1 90 53 0 53 1.0 intronic rs7183388 PAQR5 AU NM_017705 exon6 c.29700+2257G>A 0.992212 1 0.9995 1 Uncertain 15_69684389_A->T 15 69684389 69684389 A T snp 1463.77 1/1 99 59 0 59 1.0 intronic rs11634798 PAQR5 AU NM_017705 exon6 c.29700+2270A>T 0.735623 0.6825 Uncertain 15_69684477_T->A 15 69684477 69684477 T A snp 1237.77 1/1 87 47 0 47 1.0 intronic rs58280155 PAQR5 AU NM_017705 exon6 c.29700+2358T>A 0.858027 0.7986 Uncertain 15_69684482_T->- 15 69684482 69684482 T - indel 1185.73 1/1 99 46 0 46 1.0 intronic rs112633523 PAQR5 AU NM_017705 exon6 c.29700+2363delT 0.857628 0.7976 Uncertain 15_69684507_A->G 15 69684507 69684507 A G snp 804.77 1/1 57 32 0 32 1.0 intronic rs11634850 PAQR5 AU NM_017705 exon6 c.29700+2388A>G 0.996605 1 Uncertain 15_69696249_T->C 15 69696249 69696249 T C snp 374.77 1/1 30 10 0 10 1.0 UTR3 rs1394415 PAQR5 AU 0.769968 0.6825 Uncertain 15_69706731_C->G 15 69706731 69706731 C G snp 1399.77 0/1 99 126 66 60 0.48 UTR5 rs376410576 KIF23 AU 0.000998403 0.0001 0 Uncertain 15_69709686_G->A 15 69709686 69709686 G A snp 2752.77 1/1 99 106 0 106 1.0 intronic rs3759825 KIF23 AU NM_004856 exon3 c.2917-35G>A 0.830471 0.7986 0.880252 0.9251 0.8130 Uncertain 15_69728530_A->C 15 69728530 69728530 A C snp 1537.77 0/1 99 156 82 74 0.47 exonic rs11852675 KIF23 AU synonymous SNV NM_138555 exon13 c.A1326C p.V442V 0.0692891 0.0853 0.048484 0.0481 0.0781 Uncertain 15_69728949_A->G 15 69728949 69728949 A G snp 5858.77 1/1 99 233 0 233 1.0 exonic rs3825858 KIF23 AU synonymous SNV NM_138555 exon14 c.A1443G p.P481P 0.766973 0.6776 0.848776 0.8903 0.6979 Uncertain 15_69732483_G->A 15 69732483 69732483 G A snp 4117.77 1/1 99 136 0 136 1.0 intronic rs4776448 KIF23 AU NM_001281301 exon15 c.22583+67G>A 0.970647 1 Uncertain 15_69732736_C->T 15 69732736 69732736 C T snp 3097.77 1/1 99 118 0 118 1.0 exonic rs937724 KIF23 AU synonymous SNV NM_138555 exon17 c.C1977T p.T659T 0.766773 0.6786 0.848161 0.8905 0.6997 Uncertain 15_69740350_A->G 15 69740350 69740350 A G snp 770.77 1/1 57 21 0 21 1.0 UTR3 rs13613 KIF23 AU 0.767372 0.6806 Uncertain 15_69747675_A->T 15 69747675 69747675 A T snp 830.77 1/1 60 29 0 29 1.0 intronic rs1463911 RPLP1 AU NM_213725 exon2 c.2339+49A>T 0.979832 0.999 0.978092 0.9915 0.9992 Uncertain 15_69754221_T->C 15 69754221 69754221 T C snp 4031.77 1/1 99 158 0 158 1.0 intergenic rs8041861 RPLP1 AU 0.846645 0.7986 Uncertain 15_70345871_G->A 15 70345871 70345871 G A snp 224.84 1/1 18 6 0 6 1.0 intronic rs3743312 TLE3 AU NM_001282982 exon4 c.3278+158G>A 0.234225 0.3155 Uncertain 15_70347303_A->G 15 70347303 70347303 A G snp 381.77 1/1 30 10 0 10 1.0 intronic rs661936 TLE3 AU NM_001282982 exon6 c.4952-84A>G 0.999002 1 Uncertain 15_70347362_C->A 15 70347362 70347362 C A snp 1493.77 1/1 99 46 0 46 1.0 intronic rs4777227 TLE3 AU NM_001282982 exon6 c.4952-25C>A 0.717851 0.7708 0.685431 0.7650 0.8153 0.25 T 0.0 P -1.041 T Uncertain 15_70347816_-->G 15 70347816 70347816 - G indel 552.73 1/1 39 13 0 13 1.0 intronic rs11440222 TLE3 AU NM_001282982 exon6 c.5202+179insG 0.717652 0.7698 Uncertain 15_70348468_G->A 15 70348468 70348468 G A snp 759.77 1/1 57 21 0 21 1.0 intronic rs3817045 TLE3 AU NM_001282982 exon7 c.6201-168G>A 0.273962 0.3165 Uncertain 15_70348523_G->C 15 70348523 70348523 G C snp 1998.77 1/1 99 61 0 61 1.0 intronic rs2270871 TLE3 AU NM_001282982 exon7 c.6201-113G>C 0.654553 0.5724 Uncertain 15_70350457_C->A 15 70350457 70350457 C A snp 2947.77 1/1 99 111 1 110 0.99 intronic rs2291982 TLE3 AU NM_005078 exon9 c.8053-31C>A 0.151957 0.13 0.1546 0.1301 Uncertain 15_70368432_T->C 15 70368432 70368432 T C snp 4018.77 1/1 99 157 0 157 1.0 splicing rs2291986 TLE3 AU NM_001282982 exon16 c.25999-2T>C 0.249601 0.3254 0.212199 0.2320 0.3388 Pathogenic 15_70388450_G->- 15 70388450 70388450 G - indel 2356.73 1/1 99 61 0 61 1.0 intronic rs398027814 TLE3 AU NM_001105192 exon19 c.46064-49delG 1 1 0.999668 Uncertain 15_70958937_G->A 15 70958937 70958937 G A snp 203.77 0/1 52 11 4 7 0.64 intronic rs2241530 UACA AU NM_018003 exon4 c.9668-125G>A 0.661142 0.5367 Uncertain 15_70960068_G->A 15 70960068 70960068 G A snp 2993.77 0/1 99 250 132 118 0.47 exonic rs934005 UACA AU synonymous SNV NM_018003 exon16 c.C2955T p.Y985Y 0.571685 0.5327 0.645067 0.7048 0.4887 Uncertain 15_70964274_T->G 15 70964274 70964274 T G snp 631.77 0/1 99 48 25 23 0.48 intronic rs62016910 UACA AU NM_018003 exon6 c.14909-29T>G 0.0601038 0.0853 0.032285 0.0572 0.0857 Uncertain 15_70991925_G->C 15 70991925 70991925 G C snp 7344.77 1/1 99 248 0 248 1.0 exonic rs4776525 UACA AU synonymous SNV NM_018003 exon2 c.C153G p.T51T 0.730431 0.5804 0.811345 0.8288 0.5367 Uncertain 15_70994283_G->A 15 70994283 70994283 G A snp 1129.77 0/1 99 131 79 52 0.4 intronic rs6494889 UACA AU NM_001008224 exon19 c.44821+68G>A 0.208067 0.0952 0.199430 0.1314 0.0878 Uncertain 15_71046514_C->T 15 71046514 71046514 C T snp 1149.77 0/1 99 118 70 48 0.41 intronic rs76778058 UACA AU NM_018003 exon19 c.106274-9154C>T 0.0115815 0.0536 0.0022 0.0833 Uncertain 15_71125093_G->A 15 71125093 71125093 G A snp 1505.77 0/1 99 134 71 63 0.47 exonic rs3825970 LARP6 AU synonymous SNV NM_001286679 exon3 c.C222T p.C74C 0.501597 0.503 0.516933 0.5672 0.4568 Uncertain 15_71125204_A->G 15 71125204 71125204 A G snp 978.77 0/1 99 97 61 36 0.37 exonic rs1549317 LARP6 AU synonymous SNV NM_001286679 exon3 c.T111C p.F37F 0.533347 0.502 0.547876 0.5770 0.4627 Uncertain 15_71175296_A->G 15 71175296 71175296 A G snp 1425.77 1/1 99 46 0 46 1.0 intronic rs1528828 LRRC49 AU NM_001284357 exon2 c.18+9734A>G 0.983826 1 0.983059 0.9953 1 Uncertain 15_71184278_G->T 15 71184278 71184278 G T snp 3125.77 1/1 99 100 0 100 1.0 exonic rs2959174 THAP10 AU synonymous SNV NM_020147 exon1 c.C334A p.R112R 0.549121 0.5823 0.509390 0.4612 0.6292 Uncertain 15_71184495_A->G 15 71184495 71184495 A G snp 5344.77 1/1 99 197 0 197 1.0 exonic rs2955035 THAP10 AU synonymous SNV NM_020147 exon1 c.T117C p.G39G 0.545927 0.5833 0.504466 0.4679 0.6288 Uncertain 15_71185837_G->A 15 71185837 71185837 G A snp 356.78 1/1 27 13 0 13 1.0 intronic rs2955037 LRRC49 AU NM_001284357 exon3 c.20378-85G>A 0.530152 0.5794 Uncertain 15_71185854_TT->- 15 71185854 71185855 TT - indel 552.73 1/1 45 15 0 15 1.0 intronic rs550856905 LRRC49 AU NM_001284357 exon3 c.20378-68_20378-67delTT 0.477835 0.5794 Uncertain 15_71186811_C->G 15 71186811 71186811 C G snp 863.77 1/1 66 24 0 24 1.0 intronic rs1881568 LRRC49 AU NM_001199017 exon2 c.761+817C>G 0.983027 1 Uncertain 15_71192722_C->A 15 71192722 71192722 C A snp 1313.77 0/1 99 75 30 45 0.6 intronic rs186885345 LRRC49 AU NM_001284357 exon5 c.27716-538C>A 0.00159744 0.0079 Uncertain 15_71276481_CAA->- 15 71276481 71276483 CAA - indel 3512.73 1/1 99 66 0 66 1.0 exonic rs3834543 LRRC49 AU nonframeshift deletion NM_001199017 exon11 c.1069_1071del p.357_357del 0.435903 0.6032 0.410703 0.4686 0.6634 ID=COSM434229;OCCURENCE=1(breast) Uncertain 15_71341050_G->A 15 71341050 71341050 G A snp 2120.77 1/1 99 69 0 69 1.0 intronic rs1713569 LRRC49 AU NM_001284357 exon17 c.176203-697G>A 0.490415 0.6012 Uncertain 15_71535458_G->C 15 71535458 71535458 G C snp 2306.77 1/1 99 70 0 70 1.0 intronic rs12440013 THSD4 AU NM_024817 exon4 c.101569+23G>C 0.526757 0.6825 0.456085 0.5200 0.6885 Uncertain 15_71548937_T->C 15 71548937 71548937 T C snp 1529.77 0/1 99 124 69 55 0.44 intronic rs4777350 THSD4 AU NM_024817 exon5 c.115085-14T>C 0.336861 0.3234 0.363659 0.3777 0.3254 Uncertain 15_71952772_C->A 15 71952772 71952772 C A snp 272.8 1/1 21 10 0 10 1.0 intronic rs62024297 THSD4 AU NM_024817 exon7 c.519002-96C>A 0.33726 0.6716 Uncertain 15_71953045_G->A 15 71953045 71953045 G A snp 4787.77 1/1 99 180 1 179 0.99 exonic rs62024298 THSD4 AU synonymous SNV NM_001286429 exon2 c.G249A p.T83T 0.337061 0.6706 0.220818 0.2936 0.6892 Uncertain 15_72023422_C->T 15 72023422 72023422 C T snp 7179.77 1/1 99 250 0 250 1.0 intronic rs2277540 THSD4 AU NM_024817 exon9 c.589593-37C>T 0.552516 0.7887 0.521788 0.6553 0.8151 Uncertain 15_72037610_G->A 15 72037610 72037610 G A snp 1847.77 1/1 99 65 0 65 1.0 intronic rs2291994 THSD4 AU NM_024817 exon11 c.603708+36G>A 0.690096 0.871 0.638793 0.7311 0.8845 Uncertain 15_72050163_C->G 15 72050163 72050163 C G snp 1775.77 1/1 99 61 0 61 1.0 intronic rs2625533 THSD4 AU NM_024817 exon14 c.616374-77C>G 0.678714 0.7688 Uncertain 15_72073003_C->T 15 72073003 72073003 C T snp 1895.77 0/1 99 162 76 86 0.53 UTR3 rs2291275 THSD4 AU 0.397963 0.1905 0.5802 0.1768 Uncertain 15_72103795_T->C 15 72103795 72103795 T C snp 567.77 0/1 99 44 21 23 0.52 intronic rs2742318 NR2E3 AR,AD NM_014249 exon2 c.739-27T>C 0.144369 0.1766 0.077146 0.0676 0.2188 Uncertain 15_72104217_G->A 15 72104217 72104217 G A snp 1816.77 0/1 99 125 51 74 0.59 intronic rs112520386 NR2E3 AR,AD NM_014249 exon3 c.1126+8G>A 0.00858626 0.0357 0.0027 0.0295 Uncertain 15_72105929_C->- 15 72105929 72105929 C - indel 7331.73 1/1 99 197 0 197 1.0 splicing rs11351249 NR2E3 AR,AD NM_014249 exon7 c.2846delC 1 1 0.999831 1 1 Pathogenic 15_72186286_A->T 15 72186286 72186286 A T snp 258.8 1/1 21 7 0 7 1.0 intronic rs2128112 MYO9A AU NM_006901 exon17 c.67199+167A>T 0.578674 0.3869 Uncertain 15_72191073_T->C 15 72191073 72191073 T C snp 7472.77 1/1 99 246 0 246 1.0 exonic rs2415128 MYO9A AU synonymous SNV NM_006901 exon25 c.A3771G p.R1257R 0.592851 0.3849 0.679880 0.6901 0.3784 Uncertain 15_72191266_C->T 15 72191266 72191266 C T snp 5986.77 1/1 99 215 0 215 1.0 exonic rs2415129 MYO9A AU nonsynonymous SNV NM_006901 exon25 c.G3578A p.G1193E 0.891973 0.8254 0.924107 0.9447 0.8259 1 T 0.0 P -0.938 T 0.0 T 0.0 T Pathogenic 15_72252189_-->A 15 72252189 72252189 - A indel 363.73 0/1 99 38 13 25 0.66 intronic rs397793621 MYO9A AU NM_006901 exon29 c.133321-52insA 0.467851 0.506 0.4263 0.4334 Uncertain 15_72300031_A->C 15 72300031 72300031 A C snp 141.03 1/1 12 4 0 4 1.0 intronic rs3759820 MYO9A AU NM_006901 exon35 c.181246-135A>C 0.588858 0.3859 Uncertain 15_72302894_G->C 15 72302894 72302894 G C snp 56.74 1/1 6 2 0 2 1.0 intronic rs2957742 MYO9A AU NM_006901 exon36 c.183868+106G>C 0.553115 0.3849 Uncertain 15_72431883_G->C 15 72431883 72431883 G C snp 520.77 1/1 39 14 0 14 1.0 intronic rs7175792 SENP8 AU 0.577476 0.3879 Uncertain 15_72432583_A->G 15 72432583 72432583 A G snp 2847.77 1/1 99 90 0 90 1.0 exonic rs930871 SENP8 AU nonsynonymous SNV NM_001166340 exon2 c.A619G p.T207A 0.947883 1 0.948661 0.9851 1 0.77 T 0.0 P -0.991 T 0.0 T 0.0 T Pathogenic 15_72454729_C->G 15 72454729 72454729 C G snp 3519.77 1/1 99 136 0 136 1.0 intronic rs897731 GRAMD2 AU NM_001012642 exon2 c.369+11C>G 0.986422 1 0.984683 0.9961 1 Uncertain 15_72457551_A->G 15 72457551 72457551 A G snp 518.77 1/1 39 15 0 15 1.0 intronic rs2959944 GRAMD2 AU NM_001012642 exon5 c.3345-143A>G 0.986222 1 Uncertain 15_72460339_T->A 15 72460339 72460339 T A snp 1813.77 1/1 99 51 0 51 1.0 intronic rs8025939 GRAMD2 AU NM_001012642 exon8 c.5831+159T>A 0.57528 0.3869 Uncertain 15_72461726_G->A 15 72461726 72461726 G A snp 132.77 0/1 99 13 8 5 0.38 intronic GRAMD2 AU NM_001012642 exon10 c.6988+389G>A Uncertain 15_72462165_A->C 15 72462165 72462165 A C snp 2083.77 1/1 99 72 1 71 0.99 intronic rs11072348 GRAMD2 AU NM_001012642 exon11 c.7838-22A>C 0.947284 1 0.948969 0.9851 1 Uncertain 15_72462831_T->C 15 72462831 72462831 T C snp 431.77 1/1 33 12 0 12 1.0 intronic rs7182776 GRAMD2 AU NM_001012642 exon11 c.7931+551T>C 0.659145 0.5804 Uncertain 15_72523043_C->T 15 72523043 72523043 C T snp 93.28 1/1 9 3 0 3 1.0 intronic rs35603965 PKM AU NM_001206796 exon12 c.31246-193C>T 0.542532 0.3938 Uncertain 15_72543656_T->C 15 72543656 72543656 T C snp 571.77 1/1 42 21 0 21 1.0 intronic rs2959904 PARP6 AU NM_020214 exon8 c.9801+60T>C 0.986222 1 0.985281 Uncertain 15_72545876_T->C 15 72545876 72545876 T C snp 1230.77 1/1 93 42 0 42 1.0 intronic rs1426166 PARP6 AU NM_020214 exon9 c.12050+31T>C 0.999002 1 0.998671 0.9996 0.9999 Uncertain 15_72546765_A->G 15 72546765 72546765 A G snp 2861.77 1/1 99 106 0 106 1.0 intronic rs2912227 PARP6 AU NM_020214 exon10 c.13000-30A>G 0.986022 1 0.986464 0.9962 1 Uncertain 15_72556799_G->A 15 72556799 72556799 G A snp 1870.77 1/1 99 58 0 58 1.0 intronic rs11072352 PARP6 AU NM_020214 exon17 c.23100-96G>A 0.960064 1 Uncertain 15_72557955_T->C 15 72557955 72557955 T C snp 533.77 1/1 39 18 0 18 1.0 intronic rs1426170 PARP6 AU NM_020214 exon19 c.24019+141T>C 0.986222 1 Uncertain 15_72559326_T->G 15 72559326 72559326 T G snp 176.9 1/1 15 6 0 6 1.0 intronic rs62022788 PARP6 AU NM_020214 exon21 c.25368+163T>G 0.54373 0.3919 Uncertain 15_72637795_T->C 15 72637795 72637795 T C snp 3286.77 1/1 99 125 0 125 1.0 exonic rs4777502 HEXA AR synonymous SNV NM_000520 exon13 c.A1518G p.E506E 0.876997 1 0.869535 0.9641 1 Uncertain 15_72638892_T->C 15 72638892 72638892 T C snp 812.77 1/1 63 28 0 28 1.0 exonic rs1800431 HEXA AR nonsynonymous SNV NM_000520 exon11 c.A1306G p.I436V 0.876398 0.999 0.869997 0.9643 0.9999 0.25 T 0.893 P -0.915 T 0.0 T 0.0 T Pathogenic 15_72859047_-->T 15 72859047 72859047 - T indel 109.87 1/1 15 13 0 13 1.0 intronic rs11403578 ARIH1 AU NM_005744 exon8 c.91966+101insT 0.455471 0.5784 Uncertain 15_72864579_T->- 15 72864579 72864579 T - indel 138.73 0/1 52 39 6 33 0.85 intronic rs398027905 ARIH1 AU NM_005744 exon11 c.97526+73delT 0.586661 0.6062 0.4370 0.3891 Uncertain 15_72879653_-->TTG 15 72879653 72879653 - TTG indel 3645.73 1/1 99 67 0 67 1.0 ncRNA_exonic rs113700837 MIR630 AU 0.91853 1 0.9724 0.9999 Uncertain 15_72987588_G->T 15 72987588 72987588 G T snp 907.77 1/1 66 31 0 31 1.0 intronic rs4777527 BBS4 AR NM_033028 exon2 c.9001+19G>T 0.941893 1 0.938549 0.9833 1 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000152838.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 15_73002035_G->A 15 73002035 73002035 G A snp 1839.77 1/1 99 68 0 68 1.0 splicing rs8033604 BBS4 AR NM_033028 exon3 c.23472-5G>A 0.942093 1 0.938645 0.9831 1 Pathogenic 15_73021810_C->T 15 73021810 73021810 C T snp 182.9 1/1 15 5 0 5 1.0 intronic rs35136341 BBS4 AR NM_001252678 exon9 c.5031-146C>T 0.220647 0.5129 Uncertain 15_73021855_T->C 15 73021855 73021855 T C snp 575.77 0/1 99 36 17 19 0.53 intronic rs6495015 BBS4 AR NM_001252678 exon9 c.5031-101T>C 0.452875 0.3036 Uncertain 15_73023937_T->C 15 73023937 73023937 T C snp 7346.77 1/1 99 250 0 250 1.0 exonic rs12914333 BBS4 AR synonymous SNV NM_033028 exon12 c.T906C p.F302F 0.960463 1 0.956043 0.9875 1 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000152839.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 15_73024181_G->A 15 73024181 73024181 G A snp 974.77 1/1 72 30 0 30 1.0 intronic rs9806635 BBS4 AR NM_001252678 exon11 c.7142+114G>A 0.960463 1 Uncertain 15_73028375_G->A 15 73028375 73028375 G A snp 687.77 1/1 51 24 0 24 1.0 intronic rs12324395 BBS4 AR NM_001252678 exon13 c.11382+68G>A 0.957867 1 Uncertain 15_73048915_CC->- 15 73048915 73048916 CC - indel 678.73 1/1 45 21 0 21 1.0 intronic rs57545067 ADPGK AU NM_031284 exon3 c.4107+127_4107+128delCC 0.220847 0.5149 Uncertain 15_73067023_C->G 15 73067023 73067023 C G snp 133.03 1/1 12 4 0 4 1.0 intronic rs28582982 ADPGK AU NM_031284 exon6 c.22531-189C>G 0.453674 0.746 Uncertain 15_73067234_T->C 15 73067234 73067234 T C snp 5817.77 1/1 99 219 0 219 1.0 exonic rs11634630 ADPGK AU synonymous SNV NM_031284 exon2 c.A438G p.A146A 0.960064 0.999 0.960381 0.9881 0.9999 Uncertain 15_73409213_-->T 15 73409213 73409213 - T indel 191.73 0/1 99 31 10 21 0.68 intronic rs3840037 NEO1 AU NM_001172624 exon2 c.64182+15insT 0.558506 0.4196 0.594568 0.5221 0.3943 Uncertain 15_73528937_T->C 15 73528937 73528937 T C snp 541.77 0/1 99 34 17 17 0.5 intronic rs747873 NEO1 AU NM_001172624 exon8 c.183831+90T>C 0.325479 0.2966 Uncertain 15_73541513_A->G 15 73541513 73541513 A G snp 1938.77 0/1 99 180 94 86 0.48 exonic rs3736510 NEO1 AU synonymous SNV NM_001172623 exon10 c.A1719G p.K573K 0.350439 0.2976 0.396536 0.4511 0.2645 Uncertain 15_73545732_T->C 15 73545732 73545732 T C snp 865.77 1/1 72 34 1 33 0.97 intronic rs2623989 NEO1 AU NM_001172624 exon12 c.200724-8T>C 0.817292 0.8978 0.827252 0.8954 0.8959 Uncertain 15_73551250_A->G 15 73551250 73551250 A G snp 1519.77 0/1 99 121 52 69 0.57 intronic rs2251205 NEO1 AU NM_001172624 exon14 c.206201+33A>G 0.390176 0.3472 0.432640 0.4796 0.3116 Uncertain 15_73564881_C->T 15 73564881 73564881 C T snp 2101.77 0/1 99 183 91 92 0.5 exonic rs1131854 NEO1 AU synonymous SNV NM_001172623 exon19 c.C2943T p.S981S 0.360623 0.3254 0.411855 0.4732 0.2928 Uncertain 15_73566942_G->A 15 73566942 73566942 G A snp 4024.77 1/1 99 144 0 144 1.0 intronic rs497539 NEO1 AU NM_002499 exon21 c.222016-90G>A 0.850639 0.879 Uncertain 15_73581444_A->G 15 73581444 73581444 A G snp 1136.77 0/1 99 72 29 43 0.6 intronic rs489531 NEO1 AU NM_001172624 exon24 c.236470-42A>G 0.45627 0.5863 0.416705 0.4448 0.6223 Uncertain 15_73590579_C->T 15 73590579 73590579 C T snp 1565.77 0/1 99 101 44 57 0.56 intronic rs2292915 NEO1 AU NM_001172624 exon26 c.245672-109C>T 0.341454 0.5159 Uncertain 15_73595089_-->A 15 73595089 73595089 - A indel 2995.73 0/1 99 214 124 90 0.42 UTR3 rs3833036 NEO1 AU 0.33127 0.2976 0.380732 0.4504 0.2661 Uncertain 15_73614834_T->C 15 73614834 73614834 T C snp 2056.77 1/1 99 76 0 76 1.0 exonic rs529004 HCN4 AU,AD synonymous SNV NM_005477 exon8 c.A3600G p.P1200P 0.859625 0.879 0.875193 0.9026 0.8841 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter|criteria_provided\x2c_single_submitter;CLNACC=RCV000081299.3|RCV000125355.1;CLNDSDB=MedGen|MedGen;CLNDSDBID=CN169374|CN221809 Uncertain 15_73616635_T->C 15 73616635 73616635 T C snp 1563.77 1/1 99 58 0 58 1.0 intronic rs481579 HCN4 AU,AD NM_005477 exon2 c.1773+41T>C 0.772963 0.8135 0.799076 0.8758 0.8217 Uncertain 15_73616744_C->T 15 73616744 73616744 C T snp 38.77 0/1 67 6 4 2 0.33 intronic rs62015502 HCN4 AU,AD NM_005477 exon2 c.1773+150C>T 0.271166 0.2907 Uncertain 15_73848808_A->C 15 73848808 73848808 A C snp 601.77 0/1 99 36 14 22 0.61 intronic rs922687 REC114 AU NM_001042367 exon5 c.113206+76A>C 0.554712 0.5466 Uncertain 15_73862336_C->A 15 73862336 73862336 C A snp 66.77 0/1 95 7 4 3 0.43 intronic rs77568214 NPTN AU NM_001161364 exon4 c.8240-154C>A 0.158746 0.3641 Uncertain 15_73982965_G->A 15 73982965 73982965 G A snp 452.77 0/1 99 39 22 17 0.44 intronic rs6495076 CD276 AU 0.534545 0.5546 Uncertain 15_74000839_G->A 15 74000839 74000839 G A snp 931.77 0/1 99 58 21 37 0.64 intronic rs2291011 CD276 AU NM_025240 exon5 c.8834+25G>A 0.323482 0.3274 0.356890 0.4265 0.3868 Uncertain 15_74032783_A->G 15 74032783 74032783 A G snp 3252.77 0/1 99 250 128 122 0.49 exonic rs28594180 C15orf59 AU synonymous SNV NM_001039614 exon2 c.T357C p.S119S 0.448083 0.5853 0.371035 0.4359 0.5909 Uncertain 15_74033033_A->G 15 74033033 74033033 A G snp 1667.77 1/1 99 53 0 53 1.0 intronic rs11858458 C15orf59 AU NM_001039614 exon1 c.726+50A>G 0.816494 0.8829 0.827294 0.8759 0.8978 Uncertain 15_74043523_A->G 15 74043523 74043523 A G snp 1245.77 ./1 99 38 0 38 1.0 UTR5 rs7497362 C15orf59 AU 0.745807 0.8849 0.711916 0.7850 0.8975 Uncertain 15_74043523_A->T 15 74043523 74043523 A T snp 1245.77 ./1 99 38 0 38 1.0 UTR5 C15orf59 AU Uncertain 15_74043524_C->T 15 74043524 74043524 C T snp 506.77 0/1 99 37 21 16 0.43 UTR5 C15orf59 AU Uncertain 15_74173668_A->G 15 74173668 74173668 A G snp 3192.79 1/1 99 104 0 104 1.0 intronic rs7496005 TBC1D21 AU NM_153356 exon2 c.7689-71A>G 0.365016 0.6915 Uncertain 15_74176454_A->- 15 74176454 74176454 A - indel 3508.73 1/1 99 90 0 90 1.0 intronic rs398027938 TBC1D21 AU NM_001286434 exon3 c.10441-37delA 0.958866 1 0.953754 0.9871 1 Uncertain 15_74177071_C->A 15 74177071 74177071 C A snp 1162.77 0/1 99 86 37 49 0.57 intronic rs72745335 TBC1D21 AU NM_001286434 exon4 c.11071-50C>A 0.106829 0.0526 0.092225 0.1331 0.0546 Uncertain 15_74177553_G->C 15 74177553 74177553 G C snp 437.77 0/1 99 31 15 16 0.52 intronic rs896590 TBC1D21 AU NM_001286434 exon5 c.11394+109G>C 0.620407 0.3234 Uncertain 15_74178605_G->T 15 74178605 74178605 G T snp 511.77 0/1 99 37 18 19 0.51 intronic rs2278864 TBC1D21 AU NM_001286434 exon6 c.12465+90G>T 0.328874 0.6756 Uncertain 15_74179031_C->T 15 74179031 74179031 C T snp 276.77 0/1 99 24 14 10 0.42 intronic rs72745338 TBC1D21 AU NM_001286434 exon7 c.12903+78C>T 0.127196 0.0565 Uncertain 15_74181255_A->G 15 74181255 74181255 A G snp 1070.77 1/1 81 29 0 29 1.0 intronic rs7170803 TBC1D21 AU NM_001286434 exon10 c.15359-154A>G 0.994808 1 Uncertain 15_74181538_A->G 15 74181538 74181538 A G snp 337.77 0/1 99 24 9 15 0.63 UTR3 rs13638 TBC1D21 AU 0.116613 0.0575 Uncertain 15_74219582_G->A 15 74219582 74219582 G A snp 1455.77 0/1 99 106 51 55 0.52 exonic rs3825942 LOXL1 AD nonsynonymous SNV NM_005576 exon1 c.G458A p.G153D 0.247604 0.1399 0.218247 0.1849 0.1177 0.2 T 0.988 P -0.936 T 0.001 T 0.002 T CLINSIG=other;CLNDBN=Exfoliation_syndrome\x2c_susceptibility_to;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000015435.1;CLNDSDB=.;CLNDSDBID=. ID=CM074330;DIS=Exfoliation glaucoma, association with;TAG=DP;PUB=17690259 DP Pathogenic 15_74234082_C->G 15 74234082 74234082 C G snp 67.77 0/1 96 14 10 4 0.29 intronic rs11638944 LOXL1 AD NM_005576 exon2 c.16070-1112C>G 0.271166 0.0853 Uncertain 15_74234171_A->G 15 74234171 74234171 A G snp 1740.77 1/1 99 62 0 62 1.0 intronic rs8042181 LOXL1 AD NM_005576 exon2 c.16070-1023A>G 0.998003 1 1 1 Uncertain 15_74238734_T->C 15 74238734 74238734 T C snp 473.77 0/1 99 69 46 23 0.33 intronic rs2304720 LOXL1 AD NM_005576 exon3 c.19633-23T>C 0.335663 0.3621 0.100666 0.2382 0.2684 Uncertain 15_74244278_C->G 15 74244278 74244278 C G snp 398.77 1/1 30 12 0 12 1.0 UTR3 rs8818 LOXL1 AD 0.64397 0.6379 Uncertain 15_74467856_G->A 15 74467856 74467856 G A snp 7164.77 1/1 99 244 1 243 1.0 exonic rs1052622 ISLR AU synonymous SNV NM_005545 exon2 c.G657A p.T219T 0.585663 0.5615 0.609546 0.6416 0.5855 Uncertain 15_74472716_G->A 15 74472716 74472716 G A snp 2574.77 1/1 99 79 0 79 1.0 intronic rs351242 STRA6 AR NM_001142618 exon1 c.164+132G>A 0.819688 0.9702 Uncertain 15_74477216_G->A 15 74477216 74477216 G A snp 710.77 1/1 54 20 0 20 1.0 intronic rs351238 STRA6 AR NM_001142618 exon7 c.4900-104G>A 0.513179 0.6171 Uncertain 15_74477239_G->A 15 74477239 74477239 G A snp 1147.77 1/1 84 36 0 36 1.0 intronic rs351237 STRA6 AR NM_001142618 exon7 c.4900-81G>A 0.535942 0.6181 Uncertain 15_74483415_T->C 15 74483415 74483415 T C snp 3627.77 1/1 99 128 0 128 1.0 intronic rs351228 STRA6 AR NM_001142618 exon10 c.11087-92T>C 0.942093 1 0.9828 1 Uncertain 15_74486444_C->T 15 74486444 74486444 C T snp 465.77 0/1 99 29 14 15 0.52 intronic rs974456 STRA6 AR NM_001142618 exon12 c.13843+181C>T 0.365016 0.3998 Uncertain 15_74489883_A->G 15 74489883 74489883 A G snp 584.77 1/1 45 16 0 16 1.0 intronic rs351218 STRA6 AR NM_001142618 exon16 c.17344+119A>G 0.995208 1 Uncertain 15_74499956_G->C 15 74499956 74499956 G C snp 1879.77 0/1 99 166 87 79 0.48 intergenic rs351222 STRA6 AR 0.470248 0.4742 Uncertain 15_74500105_G->A 15 74500105 74500105 G A snp 1562.77 0/1 99 140 76 64 0.46 intergenic rs12915846 STRA6 AR 0.19988 0.3075 0.2198 0.3015 Uncertain 15_74528985_T->G 15 74528985 74528985 T G snp 279.77 0/1 99 39 24 15 0.38 UTR5 rs351175 CCDC33 AU 0.564696 0.4821 0.710769 Uncertain 15_74529130_T->G 15 74529130 74529130 T G snp 891.77 0/1 99 90 49 41 0.46 intronic rs11633321 CCDC33 AU NM_025055 exon1 c.21+49T>G 0.340655 0.3512 0.484054 0.5107 0.3406 Uncertain 15_74536401_AAG->- 15 74536401 74536403 AAG - indel 1493.73 0/1 99 79 49 30 0.38 exonic rs10552820 CCDC33 AU nonframeshift deletion NM_025055 exon2 c.97_99del p.33_33del 0.376997 0.3492 0.538330 0.5208 0.3377 ID=COSM1374515,COSM1374516;OCCURENCE=1(large_intestine) Uncertain 15_74558927_A->G 15 74558927 74558927 A G snp 2045.77 1/1 99 64 0 64 1.0 intronic rs440793 CCDC33 AU NM_025055 exon4 c.29958-91A>G 0.982628 1 Uncertain 15_74560566_C->T 15 74560566 74560566 C T snp 1335.77 0/1 99 101 49 52 0.51 intronic rs1038436 CCDC33 AU NM_025055 exon5 c.31622-116C>T 0.407947 0.5595 Uncertain 15_74560831_T->G 15 74560831 74560831 T G snp 355.77 0/1 99 60 44 16 0.27 intronic rs28460010 CCDC33 AU NM_025055 exon5 c.31739+32T>G 0.373403 0.3621 0.2719 0.3571 Uncertain 15_74572242_T->A 15 74572242 74572242 T A snp 641.77 1/1 48 18 0 18 1.0 intronic rs351165 CCDC33 AU NM_025055 exon8 c.43243-61T>A 0.973642 1 Uncertain 15_74572917_A->G 15 74572917 74572917 A G snp 1723.77 1/1 99 49 0 49 1.0 intronic rs351164 CCDC33 AU NM_025055 exon9 c.43948-91A>G 0.978035 1 Uncertain 15_74587965_G->A 15 74587965 74587965 G A snp 77.77 0/1 99 7 4 3 0.43 intronic rs4887128 CCDC33 AU NM_025055 exon11 c.59034-129G>A 0.19369 0.2073 Uncertain 15_74588024_T->C 15 74588024 74588024 T C snp 540.77 0/1 99 42 20 22 0.52 intronic rs1484212 CCDC33 AU NM_025055 exon11 c.59034-70T>C 0.557508 0.6141 Uncertain 15_74611182_A->G 15 74611182 74611182 A G snp 684.77 1/1 51 21 0 21 1.0 intronic rs751528 CCDC33 AU NM_182791 exon1 c.69+183A>G 0.535942 0.6518 Uncertain 15_74611189_T->C 15 74611189 74611189 T C snp 437.77 1/1 33 14 0 14 1.0 intronic rs751527 CCDC33 AU NM_182791 exon1 c.69+190T>C 0.594449 0.6776 Uncertain 15_74659535_A->G 15 74659535 74659535 A G snp 341.53 0/1 3 12 1 11 0.92 intronic rs12442401 CYP11A1 AU NM_000781 exon9 c.29345-122A>G Uncertain 15_74659609_G->T 15 74659609 74659609 G T snp 2789.77 1/1 99 103 0 103 1.0 intronic rs28681535 CYP11A1 AU NM_000781 exon9 c.29345-48G>T 0.378794 0.4266 0.282535 0.2474 0.4246 Uncertain 15_74703022_G->A 15 74703022 74703022 G A snp 829.77 0/1 99 60 28 32 0.53 exonic rs2075592 SEMA7A AU synonymous SNV NM_003612 exon14 c.C1944T p.A648A 0.181709 0.1915 0.138906 0.0917 0.1989 Uncertain 15_74703929_T->C 15 74703929 74703929 T C snp 1701.77 1/1 99 56 0 56 1.0 exonic rs741761 SEMA7A AU synonymous SNV NM_003612 exon12 c.A1545G p.Q515Q 0.495008 0.5496 0.392500 0.3551 0.5513 Uncertain 15_74706943_G->A 15 74706943 74706943 G A snp 1688.77 0/1 99 157 83 74 0.47 exonic rs1046146 SEMA7A AU synonymous SNV NM_003612 exon10 c.C1239T p.V413V 0.184105 0.1915 0.139381 0.0912 0.1971 Uncertain 15_74709975_G->A 15 74709975 74709975 G A snp 4936.77 1/1 99 174 0 174 1.0 exonic rs2075589 SEMA7A AU synonymous SNV NM_003612 exon5 c.C507T p.Y169Y 0.221046 0.3046 0.187895 0.1528 0.3075 Uncertain 15_74710593_C->T 15 74710593 74710593 C T snp 3065.77 1/1 99 120 2 118 0.98 intronic rs28362912 SEMA7A AU NM_003612 exon12 c.7644-15C>T 0.807508 0.5853 0.957031 0.8599 0.5631 Uncertain 15_74738317_G->C 15 74738317 74738317 G C snp 99.28 1/1 9 3 0 3 1.0 downstream rs149551592 UBL7 AU 0.00239617 0.0109 Uncertain 15_74740986_A->G 15 74740986 74740986 A G snp 1057.77 0/1 99 82 40 42 0.51 intronic rs60629046 UBL7 AU NM_201265 exon2 c.2511+45A>G 0.0169728 0.0823 0.000231 0.0048 0.0603 Uncertain 15_74742468_A->G 15 74742468 74742468 A G snp 2849.77 1/1 99 104 0 104 1.0 intronic rs2289188 UBL7 AU NM_201265 exon5 c.3980+58A>G 0.40595 0.5734 Uncertain 15_74749015_A->G 15 74749015 74749015 A G snp 2789.77 1/1 99 104 0 104 1.0 splicing rs7166701 UBL7 AU NM_201265 exon9 c.10582+3A>G 0.373203 0.5734 0.205298 0.2404 0.5466 Pathogenic 15_74836226_C->T 15 74836226 74836226 C T snp 276.77 0/1 99 15 4 11 0.73 UTR5 rs148651467 ARID3B AU 0.014377 0.0704 0.000174 Uncertain 15_74836316_A->G 15 74836316 74836316 A G snp 1563.77 1/1 99 58 0 58 1.0 exonic rs8043032 ARID3B AU synonymous SNV NM_006465 exon2 c.A39G p.Q13Q 0.360823 0.5744 0.139775 0.1884 0.4428 Uncertain 15_74865203_A->G 15 74865203 74865203 A G snp 2698.77 0/1 99 212 100 112 0.53 exonic rs200430821 ARID3B AU nonsynonymous SNV NM_006465 exon3 c.A553G p.N185D 0.00119808 0.006 0.0006 0.0087 1.000 D -0.856 T 0.997 D 0.985 D Pathogenic 15_74865409_G->A 15 74865409 74865409 G A snp 190.77 0/1 99 24 17 7 0.29 intronic rs10459601 ARID3B AU NM_006465 exon4 c.29195-63G>A 0.300319 0.4375 0.132204 Uncertain 15_74865440_C->T 15 74865440 74865440 C T snp 572.77 1/1 45 18 0 18 1.0 intronic rs10459648 ARID3B AU NM_006465 exon4 c.29195-32C>T 0.378195 0.5734 0.212229 0.2402 0.5472 Uncertain 15_74883851_T->G 15 74883851 74883851 T G snp 2832.77 1/1 99 107 0 107 1.0 intronic rs4886601 ARID3B AU NM_006465 exon7 c.47623-49T>G 0.363818 0.5734 0.188973 0.2378 0.5514 Uncertain 15_74888196_A->G 15 74888196 74888196 A G snp 596.77 1/1 45 25 0 25 1.0 UTR3 rs74781061 ARID3B AU 0.436302 0.5724 Uncertain 15_74908132_G->A 15 74908132 74908132 G A snp 187.77 0/1 99 22 13 9 0.41 exonic rs8040674 CLK3 AU nonsynonymous SNV NM_001130028 exon1 c.G337A p.A113T 0.297923 0.4345 0.100513 0.575 0.6636 0.11 T 1.000 P -0.977 T 0.999 D 0.992 D Pathogenic 15_74914649_G->A 15 74914649 74914649 G A snp 934.77 0/1 99 77 44 33 0.43 intronic rs56298217 CLK3 AU NM_003992 exon4 c.3020+92G>A 0.0928514 0.1865 Uncertain 15_74919593_C->G 15 74919593 74919593 C G snp 2361.77 1/1 99 65 0 65 1.0 intronic rs11629749 CLK3 AU NM_003992 exon8 c.8155-99C>G 0.436102 0.5724 Uncertain 15_74920532_C->T 15 74920532 74920532 C T snp 176.9 1/1 15 5 0 5 1.0 intronic rs11072496 CLK3 AU NM_003992 exon10 c.8856+139C>T 0.433506 0.5704 Uncertain 15_74925421_T->G 15 74925421 74925421 T G snp 364.77 0/1 99 21 9 12 0.57 intronic rs74814207 EDC3 AR NM_025083 exon1 c.335+134T>G 0.0457268 0.1359 Uncertain 15_74925422_T->C 15 74925422 74925422 T C snp 363.77 0/1 99 20 9 11 0.55 intronic rs75272152 EDC3 AR NM_025083 exon1 c.335+135T>C 0.0459265 0.1369 Uncertain 15_74933127_C->T 15 74933127 74933127 C T snp 71.77 0/1 99 9 6 3 0.33 intronic rs74394157 EDC3 AR NM_025083 exon3 c.8008+167C>T 0.0457268 0.1359 Uncertain 15_74948063_A->G 15 74948063 74948063 A G snp 707.9 1/1 15 27 1 26 0.96 intronic rs7497342 EDC3 AR NM_025083 exon4 c.23121-10A>G 0.434305 0.5694 0.279609 0.2769 0.5451 Uncertain 15_75041917_C->A 15 75041917 75041917 C A snp 219.84 1/1 18 7 0 7 1.0 intronic rs762551 CYP1A2 AU 0.629792 0.6726 ID=CR993820;DIS=Increased activity in smokers, association with;TAG=DFP;PUB=10233211 DFP Uncertain 15_75044238_G->A 15 75044238 75044238 G A snp 1005.77 0/1 99 59 25 34 0.58 intronic rs2472304 CYP1A2 AU NM_000761 exon4 c.2116+43G>A 0.238019 0.1637 0.478438 0.4586 0.1626 Uncertain 15_75047426_C->T 15 75047426 75047426 C T snp 523.77 0/1 99 31 12 19 0.61 exonic rs2470890 CYP1A2 AU synonymous SNV NM_000761 exon7 c.C1548T p.N516N 0.236222 0.1637 0.474819 0.4574 0.1628 Uncertain 15_75080872_T->C 15 75080872 75080872 T C snp 119.03 1/1 12 4 0 4 1.0 intronic rs2168519 CSK AU 0.595447 0.6329 Uncertain 15_75081078_G->A 15 75081078 75081078 G A snp 500.77 0/1 99 47 27 20 0.43 ncRNA_exonic rs2168518 MIR4513 AU 0.244609 0.1825 0.7059 0.5 ID=CR1412284;DIS=Lipid and glucose homeostasis, blood pressure and coronary artery disease, pleiotropic effects;TAG=DFP;PUB=25256095 DFP Uncertain 15_75091247_C->T 15 75091247 75091247 C T snp 1389.77 0/1 99 121 59 62 0.51 exonic rs11553760 CSK AU synonymous SNV NM_004383 exon4 c.C210T p.G70G 0.0892572 0.2808 0.026105 0.0541 0.2518 Uncertain 15_75091664_G->A 15 75091664 75091664 G A snp 794.77 0/1 99 72 40 32 0.44 exonic rs2229729 CSK AU synonymous SNV NM_004383 exon5 c.G294A p.P98P 0.058107 0.2034 0.011938 0.0242 0.1859 ID=COSM3932156;OCCURENCE=1(urinary_tract) Uncertain 15_75105849_G->A 15 75105849 75105849 G A snp 1030.77 0/1 99 119 70 49 0.41 intronic rs61166890 LMAN1L AU NM_021819 exon1 c.175+479G>A 0.086861 0.2817 0.0956 0.3015 Uncertain 15_75114322_T->C 15 75114322 75114322 T C snp 1563.77 1/1 99 47 0 47 1.0 intronic rs11636952 LMAN1L AU NM_021819 exon10 c.9046+81T>C 0.341254 0.4583 Uncertain 15_75114374_C->G 15 75114374 75114374 C G snp 473.77 1/1 36 12 0 12 1.0 intronic rs11072509 LMAN1L AU NM_021819 exon10 c.9046+133C>G 0.61262 0.631 Uncertain 15_75115895_G->A 15 75115895 75115895 G A snp 2745.77 1/1 99 102 0 102 1.0 splicing rs7162232 LMAN1L AU NM_021819 exon12 c.10704-4G>A 0.617412 0.6369 0.680040 0.6617 0.6117 Pathogenic 15_75120694_A->T 15 75120694 75120694 A T snp 200.77 0/1 99 11 4 7 0.64 intronic rs79375852 CPLX3 AU NM_001030005 exon2 c.1418+232A>T 0.0796725 0.2004 Uncertain 15_75129594_G->A 15 75129594 75129594 G A snp 1638.77 0/1 99 149 77 72 0.48 intronic rs2290573 ULK3 AU NM_001284364 exon1 c.17+9G>A 0.228634 0.1766 0.389382 0.4022 0.1766 Uncertain 15_75130016_G->- 15 75130016 75130016 G - indel 3405.73 1/1 99 98 0 98 1.0 intronic rs11312224 ULK3 AU NM_001284365 exon3 c.523-75delG Uncertain 15_75130093_T->C 15 75130093 75130093 T C snp 1658.77 0/1 99 132 62 70 0.53 exonic;splicing rs12898397 ULK3;ULK3 UN nonsynonymous SNV NM_001099436 exon14 c.A1334G p.K445R 0.38738 0.3403 0.451270 0.5390 0.3826 0.31 T 0.999 P -0.894 T 0.997 D 0.985 D Pathogenic 15_75130573_A->G 15 75130573 75130573 A G snp 574.77 0/1 99 54 28 26 0.48 intronic rs2290572 ULK3 AU NM_001284364 exon5 c.1038-33A>G 0.461262 0.3442 0.543277 0.5748 0.4288 Uncertain 15_75130868_G->C 15 75130868 75130868 G C snp 1143.77 0/1 99 124 75 49 0.4 intronic ULK3 AU NM_001284364 exon6 c.1277+23G>C Uncertain 15_75131567_C->T 15 75131567 75131567 C T snp 2217.77 0/1 99 223 121 102 0.46 intronic rs8039777 ULK3 AU NM_001284364 exon9 c.2040-41C>T 0.158147 0.3651 0.094463 0.1464 0.3810 Uncertain 15_75131661_A->G 15 75131661 75131661 A G snp 2661.77 1/1 99 91 0 91 1.0 exonic rs4886615 ULK3 AU synonymous SNV NM_001099436 exon8 c.T906C p.A302A 0.679313 0.7351 0.688057 0.6787 0.6978 Uncertain 15_75131959_A->G 15 75131959 75131959 A G snp 201.77 0/1 99 21 10 11 0.52 exonic rs936227 ULK3 AU synonymous SNV NM_001099436 exon7 c.T792C p.F264F 0.459465 0.3383 0.543312 0.5620 0.4076 Uncertain 15_75132490_C->G 15 75132490 75132490 C G snp 820.77 0/1 99 95 60 35 0.37 intronic rs12908814 ULK3 AU NM_001284364 exon11 c.3006-84C>G 0.459465 0.3403 Uncertain 15_75135447_T->C 15 75135447 75135447 T C snp 2172.77 1/1 99 80 0 80 1.0 UTR5 rs2290574 ULK3 AU 0.678315 0.7331 0.6645 0.7417 Uncertain 15_75140854_G->A 15 75140854 75140854 G A snp 345.78 1/1 27 9 0 9 1.0 intronic rs3765066 SCAMP2 AU NM_005697 exon3 c.3517-86G>A 0.384185 0.5387 Uncertain 15_75147004_A->G 15 75147004 75147004 A G snp 1245.77 0/1 99 143 84 59 0.41 intronic rs181344497 SCAMP2 AU NM_005697 exon8 c.9567+14A>G 0.000199681 0.001 0.0003 0.0044 Uncertain 15_75189591_G->A 15 75189591 75189591 G A snp 1804.77 0/1 99 130 59 71 0.55 intronic rs12593975 MPI AR NM_001289156 exon6 c.5835+31G>A 0.198482 0.3651 0.057609 0.1352 0.3604 Uncertain 15_75230502_A->G 15 75230502 75230502 A G snp 96.28 1/1 9 3 0 3 1.0 upstream rs6495131 COX5A AU 0.714457 0.8869 Uncertain 15_75304859_C->T 15 75304859 75304859 C T snp 267.77 0/1 99 13 5 8 0.62 intronic rs74023907 SCAMP5 AU NM_001178112 exon4 c.837-158C>T 0.0573083 0.2252 Uncertain 15_75305040_A->G 15 75305040 75305040 A G snp 2402.77 0/1 99 219 121 98 0.45 exonic rs7174129 SCAMP5 AU synonymous SNV NM_138967 exon3 c.A30G p.P10P 0.324481 0.4077 0.167863 0.1857 0.4256 Uncertain 15_75310075_C->A 15 75310075 75310075 C A snp 2871.77 1/1 99 104 0 104 1.0 intronic rs12593566 SCAMP5 AU NM_001178112 exon6 c.6030-135C>A 0.838259 0.9415 0.9180 0.9565 Uncertain 15_75310394_T->C 15 75310394 75310394 T C snp 46.77 0/1 72 5 2 3 0.6 intronic rs2289582 SCAMP5 AU NM_001178112 exon6 c.6132+82T>C 0.393371 0.4077 Uncertain 15_75310710_T->C 15 75310710 75310710 T C snp 555.77 0/1 99 35 15 20 0.57 intronic rs74023908 SCAMP5 AU NM_001178112 exon7 c.6578-48T>C 0.298922 0.4067 0.136476 0.1775 0.4212 Uncertain 15_75336510_C->T 15 75336510 75336510 C T snp 44.77 0/1 33 3 1 2 0.67 intronic rs74023917 PPCDC AU NM_001301102 exon3 c.16067-216C>T 0.0569089 0.2262 Uncertain 15_75336729_A->G 15 75336729 75336729 A G snp 6851.77 1/1 99 250 0 250 1.0 exonic rs2304899 PPCDC AU nonsynonymous SNV NM_001301102 exon3 c.A138G p.I46M 0.818291 0.871 0.839649 0.8964 0.8758 0.44 T 1.0 P -0.987 T 0.0 T 0.0 T Pathogenic 15_75498548_A->G 15 75498548 75498548 A G snp 6048.77 1/1 99 219 0 219 1.0 exonic rs1466663 C15orf39 AU synonymous SNV NM_015492 exon2 c.A159G p.A53A 0.992412 1 0.991374 0.9974 1 Uncertain 15_75499602_C->A 15 75499602 75499602 C A snp 2726.77 0/1 99 234 116 118 0.5 exonic rs12591506 C15orf39 AU synonymous SNV NM_015492 exon2 c.C1213A p.R405R 0.86861 0.7907 0.911969 0.9482 0.7991 Uncertain 15_75499619_T->C 15 75499619 75499619 T C snp 2883.77 0/1 99 234 111 123 0.53 exonic rs11072531 C15orf39 AU synonymous SNV NM_015492 exon2 c.T1230C p.P410P 0.91853 0.8046 0.964803 0.9692 0.8074 Uncertain 15_75499861_G->A 15 75499861 75499861 G A snp 2715.77 0/1 99 249 129 120 0.48 exonic rs11072532 C15orf39 AU nonsynonymous SNV NM_015492 exon2 c.G1472A p.G491D 0.86861 0.7897 0.911738 0.9482 0.7994 0.64 T 0.0 P -0.957 T 0.002 T 0.006 T Pathogenic 15_75499995_T->G 15 75499995 75499995 T G snp 3024.77 0/1 99 247 121 126 0.51 exonic rs28509789 C15orf39 AU nonsynonymous SNV NM_015492 exon2 c.T1606G p.S536A 0.392372 0.3264 0.330764 0.3163 0.3106 0.77 T 0.0 P -0.993 T 0.0 T 0.001 T Pathogenic 15_75503147_G->A 15 75503147 75503147 G A snp 1262.77 0/1 99 83 29 54 0.65 exonic rs3743211 C15orf39 AU nonsynonymous SNV NM_015492 exon3 c.G2834A p.G945D 0.946885 0.8036 0.990219 0.9770 0.8073 1 T 1.000 P -0.988 T 0.017 T 0.019 T Pathogenic 15_75521080_T->C 15 75521080 75521080 T C snp 344.77 0/1 99 22 8 14 0.64 intergenic rs111919026 C15orf39 AU 0.0451278 0.1875 Uncertain 15_75521833_G->C 15 75521833 75521833 G C snp 2477.77 1/1 99 87 0 87 1.0 intergenic rs6495165 C15orf39 AU 0.991813 1 Uncertain 15_75594175_C->T 15 75594175 75594175 C T snp 99.77 0/1 99 11 6 5 0.45 intergenic rs58341256 GOLGA6D AU 0.335064 0.4177 Uncertain 15_75643759_G->T 15 75643759 75643759 G T snp 375.77 0/1 99 46 26 20 0.43 intronic rs7182283 NEIL1 AU NM_024608 exon3 c.3205-692G>T 0.466254 0.5248 Uncertain 15_75645834_C->T 15 75645834 75645834 C T snp 576.77 0/1 99 48 26 22 0.46 intronic rs5745924 NEIL1 AU NM_024608 exon6 c.4833-245C>T 0.00159744 0.0079 Uncertain 15_75650836_G->A 15 75650836 75650836 G A snp 2132.77 0/1 99 161 74 87 0.54 exonic rs1128933 MAN2C1 AU synonymous SNV NM_001256496 exon18 c.C2073T p.D691D 0.366414 0.4782 0.349253 0.4634 0.4927 Uncertain 15_75650972_G->A 15 75650972 75650972 G A snp 1787.77 0/1 99 144 73 71 0.49 intronic rs3809549 MAN2C1 AU NM_001256496 exon7 c.2713+13G>A 0.396366 0.4792 0.381836 0.4729 0.4916 Uncertain 15_75651022_-->CCACATGCTGCCCAGCCCATA 15 75651022 75651022 - CCACATGCTGCCCAGCCCATA indel 12923.7 0/1 99 148 75 73 0.49 intronic rs11283893 MAN2C1 AU NM_001256496 exon8 c.2798-22insCCACATGCTGCCCAGCCCATA 0.618411 0.6558 0.642572 0.6853 0.6288 Uncertain 15_75653378_T->C 15 75653378 75653378 T C snp 2036.77 1/1 99 66 0 66 1.0 intronic rs7174408 MAN2C1 AU NM_001256496 exon15 c.5140-8T>C 0.995008 1 0.993835 0.9983 1 Uncertain 15_75664570_A->T 15 75664570 75664570 A T snp 382.77 0/1 99 31 15 16 0.52 intronic rs4886696 SIN3A AD NM_001145358 exon1 c.231+20A>T 0.58726 0.5565 0.428428 0.6939 0.5535 Uncertain 15_75664571_A->T 15 75664571 75664571 A T snp 380.77 0/1 99 31 15 16 0.52 intronic rs7403118 SIN3A AD NM_001145358 exon1 c.231+21A>T 0.627995 0.6587 0.470347 0.7149 0.6566 Uncertain 15_75692303_A->C 15 75692303 75692303 A C snp 3035.77 0/1 99 250 123 127 0.51 intronic rs4886699 SIN3A AD NM_001145358 exon10 c.28061-77A>C 0.416134 0.4444 Uncertain 15_75816649_A->C 15 75816649 75816649 A C snp 574.77 0/1 99 45 21 24 0.53 intronic rs12904319 PTPN9 AU NM_002833 exon11 c.55530+10A>C 0.136182 0.2778 0.103528 0.1169 0.2824 Uncertain 15_75916931_T->G 15 75916931 75916931 T G snp 34.77 0/1 63 12 8 4 0.33 intronic rs4886719 SNUPN AU NM_005701 exon9 c.27308-1075T>G 0.522564 0.3899 Uncertain 15_75916940_T->G 15 75916940 75916940 T G snp 38.77 0/1 67 17 12 5 0.29 intronic rs4886720 SNUPN AU NM_005701 exon9 c.27308-1066T>G 0.522564 0.3899 Uncertain 15_75931777_C->T 15 75931777 75931777 C T snp 139.03 1/1 12 4 0 4 1.0 UTR3 rs4886724 IMP3 AU 0.995607 0.9802 Uncertain 15_75932129_G->T 15 75932129 75932129 G T snp 2034.77 0/1 99 118 47 71 0.6 exonic rs13737 IMP3 AU synonymous SNV NM_018285 exon1 c.C381A p.A127A 0.39397 0.369 0.337775 0.2961 0.3670 Uncertain 15_76031200_C->T 15 76031200 76031200 C T snp 603.77 0/1 99 41 20 21 0.51 ncRNA_intronic rs8041626 DNM1P35 AU 0.310104 0.4137 Uncertain 15_76075343_G->A 15 76075343 76075343 G A snp 498.77 0/1 99 46 22 24 0.52 intergenic rs79164384 MIR4313 AU 0.176318 0.3948 Uncertain 15_76076031_GC->- 15 76076031 76076032 GC - indel 798.73 0/1 99 40 18 22 0.55 intergenic rs144037268 MIR4313 AU 0.0373403 0.0615 Uncertain 15_76078918_C->T 15 76078918 76078918 C T snp 202.77 0/1 99 18 8 10 0.56 intergenic rs60201790 MIR4313 AU 0.0173722 0.0308 0.0160 0.0380 0.21 T -1.000 T Uncertain 15_76084875_C->T 15 76084875 76084875 C T snp 1576.77 0/1 99 161 95 66 0.41 intergenic rs12708521 MIR4313 AU 0.357628 0.2411 Uncertain 15_76136194_C->T 15 76136194 76136194 C T snp 1398.77 1/1 99 44 0 44 1.0 intronic rs2047866 UBE2Q2 AU NM_173469 exon1 c.180+7C>T 0.454872 0.4375 0.435345 0.6039 0.5046 Uncertain 15_76136768_C->T 15 76136768 76136768 C T snp 2204.77 1/1 99 80 0 80 1.0 exonic rs72734531 UBE2Q2 AU nonsynonymous SNV NM_001145335 exon1 c.C74T p.P25L 0.197284 0.3631 0.100396 0.1990 0.3913 0.12 T 0.050 P -1.009 T 0.076 T 0.016 T Pathogenic 15_76175828_G->A 15 76175828 76175828 G A snp 141.03 1/1 12 7 0 7 1.0 intronic rs1868020 UBE2Q2 AU NM_001145335 exon9 c.39071+63G>A 0.964856 1 0.968915 Uncertain 15_76182949_C->T 15 76182949 76182949 C T snp 693.77 1/1 54 29 0 29 1.0 intronic rs335713 UBE2Q2 AU NM_001145335 exon10 c.46130+125C>T 0.905551 1 Uncertain 15_76191644_A->T 15 76191644 76191644 A T snp 99.28 1/1 9 3 0 3 1.0 intronic rs28607641 UBE2Q2 AU NM_001145335 exon13 c.55073-123A>T 0.458067 0.5 Uncertain 15_76191802_G->A 15 76191802 76191802 G A snp 3489.77 1/1 99 126 0 126 1.0 UTR3 rs335689 UBE2Q2 AU 0.980431 1 0.976968 0.9935 1 0 D 0.0 P -1.016 T 0.002 T 0.01 T Uncertain 15_76191852_T->C 15 76191852 76191852 T C snp 3781.77 1/1 99 156 1 155 0.99 UTR3 rs335688 UBE2Q2 AU 0.989617 1 0.989872 0.9967 1 Uncertain 15_76191966_T->C 15 76191966 76191966 T C snp 1327.77 1/1 99 37 0 37 1.0 UTR3 rs335687 UBE2Q2 AU 0.948682 1 Uncertain 15_76197071_-->TCT 15 76197071 76197071 - TCT indel 2262.73 1/1 99 41 0 41 1.0 intronic rs3073843 FBXO22 AU NM_012170 exon2 c.666+101insTCT 0.984625 1 Uncertain 15_76222140_G->T 15 76222140 76222140 G T snp 311.78 1/1 24 9 0 9 1.0 intronic rs335679 FBXO22 AU NM_012170 exon6 c.25920-84G>T 0.905351 1 Uncertain 15_76248428_T->- 15 76248428 76248428 T - indel 804.73 1/1 90 44 0 44 1.0 intronic rs10711025 NRG4 AU NM_138573 exon2 c.12374+76delT 0.886382 0.8988 Uncertain 15_76298132_A->G 15 76298132 76298132 A G snp 1464.77 1/1 99 54 0 54 1.0 intronic rs4886755 NRG4 AU NM_138573 exon4 c.65562-3408A>G 0.45647 0.499 0.5984 0.4925 Uncertain 15_76462286_A->G 15 76462286 76462286 A G snp 248.77 0/1 99 19 10 9 0.47 intronic rs12902022 C15orf27 AU NM_152335 exon6 c.35609+73A>G 0.116613 0.1657 0.094672 Uncertain 15_76496232_G->A 15 76496232 76496232 G A snp 2831.77 0/1 99 239 116 123 0.51 exonic rs937732 C15orf27 AU nonsynonymous SNV NM_152335 exon11 c.G1172A p.R391H 0.374201 0.5794 0.254583 0.3291 0.5564 0.18 T 0.925 P -0.907 T 0.054 T 0.01 T Pathogenic 15_76496340_C->T 15 76496340 76496340 C T snp 1474.77 0/1 99 101 46 55 0.54 exonic rs937733 C15orf27 AU nonsynonymous SNV NM_152335 exon11 c.C1280T p.P427L 0.373602 0.5794 0.245295 0.3341 0.5580 0.89 T 0.000 P -0.942 T 0.0 T 0.0 T Pathogenic 15_76510073_G->A 15 76510073 76510073 G A snp 315.78 1/1 24 12 0 12 1.0 intronic rs1533600 ETFA AR NM_000126 exon1 c.39+1135G>A 0.97504 1 Uncertain 15_76518346_-->CCTTA 15 76518346 76518346 - CCTTA indel 1015.73 1/1 39 14 0 14 1.0 intronic rs11281932 ETFA AR NM_000126 exon2 c.9371+76insCCTTA 0.96865 1 Uncertain 15_76584686_-->A 15 76584686 76584686 - A indel 245.73 0/1 99 24 15 9 0.38 intronic rs3215000 ETFA AR NM_000126 exon9 c.75872-85insA 0.369409 0.3571 Uncertain 15_76587777_C->T 15 76587777 76587777 C T snp 80.77 0/1 72 6 3 3 0.5 intronic rs3759853 ETFA AR NM_000126 exon11 c.79032-154C>T 0.346246 0.3571 Uncertain 15_76603611_A->- 15 76603611 76603611 A - indel 2840.73 0/1 99 133 59 74 0.56 intronic rs3215142 ETFA AR NM_000126 exon12 c.94791-79delA 0.305711 0.4792 0.210548 Uncertain 15_76603928_C->T 15 76603928 76603928 C T snp 199.77 0/1 99 17 8 9 0.53 upstream rs62027052 ETFA AR 0.306909 0.4812 Uncertain 15_76630303_T->C 15 76630303 76630303 T C snp 7719.77 1/1 99 249 1 248 1.0 exonic rs4636879 ISL2 AU synonymous SNV NM_145805 exon2 c.T243C p.Y81Y 0.689097 0.8879 0.637729 0.7886 0.8890 Uncertain 15_76632907_A->G 15 76632907 76632907 A G snp 5546.77 1/1 99 210 0 210 1.0 intronic rs7180257 ISL2 AU NM_145805 exon4 c.3676+7A>G 0.860423 0.9187 0.869448 0.8941 0.9106 Uncertain 15_76673627_T->C 15 76673627 76673627 T C snp 62.77 0/1 91 15 12 3 0.2 intronic rs17460201 SCAPER AU NM_020843 exon5 c.32745-91T>C 0.319089 0.2589 Uncertain 15_76673716_T->C 15 76673716 76673716 T C snp 869.77 0/1 99 67 29 38 0.57 splicing rs3765115 SCAPER AU NM_020843 exon5 c.32745-2T>C 0.415735 0.6131 0.297225 0.4249 0.5960 Pathogenic 15_76726465_G->T 15 76726465 76726465 G T snp 1168.77 0/1 99 113 59 54 0.48 exonic rs1607017 SCAPER AU nonsynonymous SNV NM_020843 exon25 c.C3265A p.P1089T 0.35603 0.6131 0.252241 0.3504 0.5609 0.28 T 0.648 P -0.959 T 0.051 T 0.023 T Pathogenic 15_76763514_C->A 15 76763514 76763514 C A snp 480.77 0/1 99 42 20 22 0.52 intronic rs11072597 SCAPER AU NM_020843 exon8 c.122579-38C>A 0.355831 0.6111 0.250934 0.3502 0.5579 Uncertain 15_76866785_T->C 15 76866785 76866785 T C snp 50.74 1/1 6 2 0 2 1.0 intronic rs965818 SCAPER AU NM_020843 exon10 c.225652+160T>C 0.41873 0.5813 Uncertain 15_76957958_A->G 15 76957958 76957958 A G snp 96.28 1/1 9 3 0 3 1.0 intronic rs280021 SCAPER AU NM_020843 exon12 c.317020-35A>G 0.966853 1 0.967932 0.9904 0.9998 Uncertain 15_77064390_GAA->- 15 77064390 77064392 GAA - indel 986.73 1/1 57 29 0 29 1.0 intronic rs200816579 SCAPER AU NM_020843 exon23 c.423322+95_423322+97delGAA 0.966054 1 Uncertain 15_77085740_C->A 15 77085740 77085740 C A snp 648.77 1/1 48 24 0 24 1.0 intronic rs3102707 SCAPER AU NM_001145923 exon25 c.444759+8C>A 0.967252 1 Uncertain 15_77087785_T->C 15 77087785 77087785 T C snp 275.77 0/1 99 17 7 10 0.59 splicing rs11852395 SCAPER AU NM_020843 exon25 c.446808+4T>C 0.353235 0.5813 0.240068 0.3546 0.5455 Pathogenic 15_77148253_A->G 15 77148253 77148253 A G snp 439.77 0/1 99 36 21 15 0.42 intronic rs11637494 SCAPER AU NM_001145923 exon30 c.507244+36A>G 0.410942 0.5823 0.5122 0.5656 Uncertain 15_77176158_T->C 15 77176158 77176158 T C snp 961.77 0/1 99 78 34 44 0.56 exonic rs3812908 SCAPER AU nonsynonymous SNV NM_020843 exon1 c.A1G p.M1V 0.417732 0.5774 0.296268 0.4036 0.5470 0.16 T 0.158 P -0.862 T 0.811 T 0.828 P Pathogenic 15_77176200_A->T 15 77176200 77176200 A T snp 699.77 0/1 99 53 22 31 0.58 UTR5 rs3812909 SCAPER AU 0.416933 0.5774 0.294404 0.3859 0.5219 0.28 T 0.000 P -0.905 T Uncertain 15_77197745_C->A 15 77197745 77197745 C A snp 670.77 0/1 99 51 23 28 0.55 intergenic rs907594 SCAPER AU 0.413538 0.5794 0.5 . Uncertain 15_77231158_C->T 15 77231158 77231158 C T snp 3685.77 1/1 99 128 0 128 1.0 intronic rs4886841 RCN2 AU NM_001271837 exon4 c.9795-2819C>T 0.946086 1 0.9919 1 Uncertain 15_77239651_C->T 15 77239651 77239651 C T snp 56.74 1/1 6 2 0 2 1.0 intronic rs2280194 RCN2 AU NM_002902 exon5 c.15579-110C>T 0.415136 0.5794 Uncertain 15_77241568_T->C 15 77241568 77241568 T C snp 2458.77 1/1 99 86 0 86 1.0 UTR3 rs1711018 RCN2 AU 0.925519 0.9812 0.937134 0.9745 0.9992 Uncertain 15_77286946_T->C 15 77286946 77286946 T C snp 162.78 0/1 24 7 2 5 0.71 upstream rs56293302 PSTPIP1 AD 0.121006 0.0873 Uncertain 15_77288018_G->A 15 77288018 77288018 G A snp 68.77 0/1 97 10 7 3 0.3 intronic rs2254441 PSTPIP1 AD NM_003978 exon1 c.36+68G>A 0.388978 0.5367 0.266960 Uncertain 15_77308255_C->T 15 77308255 77308255 C T snp 575.77 0/1 99 62 37 25 0.4 intronic rs78138579 PSTPIP1 AD NM_003978 exon2 c.22574-2233C>T 0.125 0.1161 Uncertain 15_77308387_G->A 15 77308387 77308387 G A snp 1098.77 0/1 99 109 59 50 0.46 intronic rs7173067 PSTPIP1 AD NM_003978 exon2 c.22574-2101G>A 0.610224 0.4881 Uncertain 15_77310636_G->C 15 77310636 77310636 G C snp 1545.77 0/1 99 112 53 59 0.53 intronic rs3812911 PSTPIP1 AD NM_003978 exon2 c.22675+47G>C 0.60603 0.4901 0.730242 0.7481 0.5304 Uncertain 15_77322029_C->T 15 77322029 77322029 C T snp 295.77 0/1 99 18 9 9 0.5 intronic rs3935339 PSTPIP1 AD NM_003978 exon8 c.34001+114C>T 0.280751 0.3968 Uncertain 15_77323009_T->C 15 77323009 77323009 T C snp 2832.77 1/1 99 108 0 108 1.0 intronic rs2469237 PSTPIP1 AD NM_003978 exon9 c.35008+87T>C 0.98103 1 Uncertain 15_77323029_C->A 15 77323029 77323029 C A snp 1043.77 0/1 99 92 46 46 0.5 intronic rs12903227 PSTPIP1 AD NM_003978 exon9 c.35008+107C>A 0.313898 0.5288 Uncertain 15_77324880_A->G 15 77324880 77324880 A G snp 2408.77 0/1 99 171 71 100 0.58 intronic rs4078354 PSTPIP1 AD NM_003978 exon11 c.36821+145A>G 0.531749 0.4692 0.6737 0.5434 Uncertain 15_77328108_-->A 15 77328108 77328108 - A indel 938.73 1/1 72 24 0 24 1.0 intronic rs11373069 PSTPIP1 AD NM_003978 exon14 c.40228-34insA 1 1 0.999914 1.0000 1 Uncertain 15_77344793_T->A 15 77344793 77344793 T A snp 1672.77 0/1 99 139 70 69 0.5 exonic rs11737 TSPAN3 AU synonymous SNV NM_001168412 exon5 c.A411T p.V137V 0.491214 0.4028 0.605855 0.5999 0.4160 Uncertain 15_77406396_C->T 15 77406396 77406396 C T snp 466.77 0/1 99 27 10 17 0.63 UTR3 rs3743479 PEAK1 AU 0.52496 0.3581 Uncertain 15_77425228_A->G 15 77425228 77425228 A G snp 136.03 1/1 12 4 0 4 1.0 intronic rs11638220 PEAK1 AU NM_024776 exon2 c.18849-118A>G 0.197484 0.1121 Uncertain 15_77450964_C->T 15 77450964 77450964 C T snp 1813.77 0/1 99 150 73 77 0.51 exonic rs12909704 PEAK1 AU nonsynonymous SNV NM_024776 exon6 c.G3212A p.R1071K 0.198083 0.1121 0.280901 0.2973 0.1080 0.2 T 0.0 P -1.012 T 0.002 T 0.002 T Pathogenic 15_77759295_G->A 15 77759295 77759295 G A snp 44.77 0/1 33 3 1 2 0.67 intronic rs2055901 HMG20A AU NM_018200 exon5 c.8687-141G>A 0.524561 0.371 Uncertain 15_77907145_G->A 15 77907145 77907145 G A snp 1652.77 0/1 99 126 63 63 0.5 exonic rs3743481 LINGO1 AU synonymous SNV NM_032808 exon2 c.C1104T p.S368S 0.519968 0.5952 0.420341 0.4576 0.6042 Uncertain 15_77907535_C->G 15 77907535 77907535 C G snp 3444.77 1/1 99 122 0 122 1.0 exonic rs2271396 LINGO1 AU synonymous SNV NM_032808 exon2 c.G714C p.L238L 0.718051 0.8016 0.652494 0.6693 0.7857 Uncertain 15_77907775_T->C 15 77907775 77907775 T C snp 7147.77 1/1 99 250 0 250 1.0 exonic rs2271397 LINGO1 AU synonymous SNV NM_032808 exon2 c.A474G p.L158L 0.724042 0.8304 0.653261 0.6703 0.8007 Uncertain 15_77907784_G->A 15 77907784 77907784 G A snp 7088.77 1/1 99 250 1 249 1.0 exonic rs2271398 LINGO1 AU synonymous SNV NM_032808 exon2 c.C465T p.I155I 0.715655 0.7937 0.651529 0.6680 0.7809 Uncertain 15_77926536_A->G 15 77926536 77926536 A G snp 1542.77 0/1 99 103 51 52 0.5 intronic rs9972481 LINGO1 AU NM_032808 exon2 c.18484+1667A>G 0.233826 0.12 Uncertain 15_77926576_-->C 15 77926576 77926576 - C indel 3321.73 0/1 99 193 99 94 0.49 intronic rs397714853 LINGO1 AU NM_032808 exon2 c.18484+1707insC 0.234824 0.12 0.1059 0.0929 Uncertain 15_77926792_T->G 15 77926792 77926792 T G snp 1066.77 0/1 99 86 47 39 0.45 intronic rs13329323 LINGO1 AU NM_032808 exon2 c.18484+1923T>G 0.185104 0.12 Uncertain 15_77938731_-->GTCCTGCCTCCCAG 15 77938731 77938731 - GTCCTGCCTCCCAG indel 1632.73 0/1 99 28 18 10 0.36 ncRNA_exonic rs72546313 LINGO1-AS1 AU 0.131789 0.119 0.0976 0.0969 Uncertain 15_78189084_T->C 15 78189084 78189084 T C snp 1272.77 0/1 99 133 76 57 0.43 intergenic rs4243062 LINGO1 AU 0.796126 0.8681 Uncertain 15_78189163_C->T 15 78189163 78189163 C T snp 1156.77 0/1 99 83 32 51 0.61 intergenic rs148372236 LINGO1 AU 0.173522 0.131 Uncertain 15_78189370_A->C 15 78189370 78189370 A C snp 784.77 0/1 99 79 41 38 0.48 intergenic rs4441238 LINGO1 AU 0.783746 0.8641 Uncertain 15_78189525_C->T 15 78189525 78189525 C T snp 258.8 1/1 21 7 0 7 1.0 intergenic rs4886960 LINGO1 AU 0.548722 0.6806 Uncertain 15_78196212_A->G 15 78196212 78196212 A G snp 347.77 0/1 88 16 4 12 0.75 intergenic rs7178928 LINGO1 AU 0.797923 0.8651 Uncertain 15_78211345_A->G 15 78211345 78211345 A G snp 327.77 0/1 99 28 13 15 0.54 ncRNA_exonic rs12592294 LOC645752 AU 0.802915 0.8671 0.8782 0.8727 Uncertain 15_78232240_G->C 15 78232240 78232240 G C snp 1136.77 0/1 99 88 39 49 0.56 intergenic rs12907147 LOC645752 AU 0.641773 0.8085 0.6510 0.7879 Uncertain 15_78235104_T->G 15 78235104 78235104 T G snp 1978.77 0/1 99 191 102 89 0.47 intergenic rs60257193 LOC645752 AU 0.239816 0.1478 0.3586 0.2786 Uncertain 15_78268458_A->G 15 78268458 78268458 A G snp 180.9 1/1 15 7 0 7 1.0 intergenic rs4514641 LOC645752 AU 0.838259 0.9752 Uncertain 15_78269731_G->T 15 78269731 78269731 G T snp 321.78 1/1 24 13 0 13 1.0 intergenic rs11852862 LOC645752 AU 0.837061 0.9722 Uncertain 15_78269737_A->T 15 78269737 78269737 A T snp 299.78 1/1 24 13 0 13 1.0 intergenic rs11852790 LOC645752 AU 0.837061 0.9722 Uncertain 15_78269738_C->T 15 78269738 78269738 C T snp 312.78 1/1 24 12 0 12 1.0 intergenic rs11852821 LOC645752 AU 0.837061 0.9722 Uncertain 15_78269747_G->A 15 78269747 78269747 G A snp 317.78 1/1 24 12 0 12 1.0 intergenic rs11852867 LOC645752 AU 0.837061 0.9722 Uncertain 15_78269760_C->T 15 78269760 78269760 C T snp 392.77 1/1 30 14 0 14 1.0 intergenic rs71402931 LOC645752 AU 0.834665 0.9643 Uncertain 15_78269762_C->T 15 78269762 78269762 C T snp 401.77 1/1 30 14 0 14 1.0 intergenic rs78023616 LOC645752 AU 0.834864 0.9643 Uncertain 15_78269763_A->G 15 78269763 78269763 A G snp 401.77 1/1 30 14 0 14 1.0 intergenic rs75184028 LOC645752 AU 0.834864 0.9643 Uncertain 15_78269794_T->- 15 78269794 78269794 T - indel 549.73 1/1 42 15 0 15 1.0 intergenic rs67603081 LOC645752 AU 0.3752 0.4504 Uncertain 15_78269798_G->A 15 78269798 78269798 G A snp 361.78 1/1 27 13 0 13 1.0 intergenic rs142983118 LOC645752 AU 0.411142 0.4812 Uncertain 15_78269801_G->A 15 78269801 78269801 G A snp 361.78 1/1 27 13 0 13 1.0 intergenic rs140951103 LOC645752 AU 0.411142 0.4812 Uncertain 15_78269802_-->G 15 78269802 78269802 - G indel 471.73 1/1 39 13 0 13 1.0 intergenic rs143146370 LOC645752 AU 0.411142 0.4812 Uncertain 15_78272205_A->G 15 78272205 78272205 A G snp 180.9 1/1 15 8 3 5 0.63 intergenic rs11072713 LOC645752 AU 0.689497 0.7768 Uncertain 15_78272207_G->A 15 78272207 78272207 G A snp 178.9 1/1 15 8 3 5 0.63 intergenic rs11072714 LOC645752 AU 0.658147 0.7768 Uncertain 15_78272318_C->G 15 78272318 78272318 C G snp 2414.77 1/1 99 119 22 97 0.82 intergenic rs12439777 LOC645752 AU Uncertain 15_78272529_T->C 15 78272529 78272529 T C snp 258.8 1/1 21 7 0 7 1.0 intergenic rs12595494 LOC645752 AU 0.567692 0.8442 Uncertain 15_78272536_A->C 15 78272536 78272536 A C snp 125.03 1/1 12 4 0 4 1.0 intergenic rs12592934 LOC645752 AU 0.634385 0.877 Uncertain 15_78276594_A->C 15 78276594 78276594 A C snp 1280.77 1/1 63 46 1 45 0.98 intergenic rs72732526 LOC645752 AU 0.261981 0.3294 0.3218 0.4012 Uncertain 15_78276595_C->A 15 78276595 78276595 C A snp 1296.77 1/1 59 47 1 46 0.98 intergenic rs72732527 LOC645752 AU 0.261981 0.3294 0.3205 0.3977 Uncertain 15_78276660_A->G 15 78276660 78276660 A G snp 2304.77 1/1 99 84 0 84 1.0 intergenic rs12916320 LOC645752 AU 0.840855 0.9901 0.8549 0.9925 Uncertain 15_78369815_G->A 15 78369815 78369815 G A snp 4015.77 1/1 99 158 0 158 1.0 exonic rs9047 TBC1D2B AU synonymous SNV NM_015079 exon1 c.C180T p.F60F 0.179513 0.3363 0.2130 0.4195 Uncertain 15_78369959_G->C 15 78369959 78369959 G C snp 393.77 1/1 30 15 0 15 1.0 exonic rs113518553 TBC1D2B AU synonymous SNV NM_015079 exon1 c.C36G p.G12G 0 . Uncertain 15_78390414_T->C 15 78390414 78390414 T C snp 6361.77 1/1 99 217 0 217 1.0 exonic rs2289524 SH2D7 AU nonsynonymous SNV NM_001101404 exon3 c.T410C p.M137T 0.417732 0.252 0.455066 0.4448 0.3007 0.99 T 0.000 P -0.915 T 0.0 T 0.0 T Pathogenic 15_78390909_C->T 15 78390909 78390909 C T snp 893.77 0/1 99 110 67 43 0.39 exonic rs12593575 SH2D7 AU nonsynonymous SNV NM_001101404 exon4 c.C616T p.R206W 0.226038 0.122 0.209787 0.2016 0.1209 0.21 T 0.0 P -1.042 T 0.0 T 0.0 T Pathogenic 15_78391077_C->A 15 78391077 78391077 C A snp 77.77 0/1 99 7 4 3 0.43 intronic rs72732564 SH2D7 AU NM_001101404 exon4 c.6012+139C>A 0.176118 0.13 Uncertain 15_78401540_A->C 15 78401540 78401540 A C snp 105.77 0/1 99 10 6 4 0.4 intronic rs12592068 CIB2 AR NM_001301224 exon3 c.3924-36A>C 0.754593 0.8423 0.6957 0.8221 Uncertain 15_78401540_-->CC 15 78401540 78401540 - CC indel 348.74 1/1 28 10 0 10 1.0 intronic rs11390540 CIB2 AR NM_001301224 exon3 c.3924-36insCC 0.174121 0.1548 0.2434 0.1761 Uncertain 15_78402001_A->C 15 78402001 78402001 A C snp 210.77 0/1 99 18 9 9 0.5 intronic rs11072729 CIB2 AR NM_001301224 exon3 c.4199+150A>C 0.174321 0.1498 Uncertain 15_78403004_A->G 15 78403004 78403004 A G snp 1732.77 1/1 99 65 0 65 1.0 intronic rs1992469 CIB2 AR NM_006383 exon4 c.5854-502A>G 1 1 1 1 Uncertain 15_78403179_C->G 15 78403179 78403179 C G snp 1714.77 1/1 99 64 0 64 1.0 intronic rs2867986 CIB2 AR NM_006383 exon4 c.5854-327C>G 0.918331 1 Uncertain 15_78403292_T->C 15 78403292 78403292 T C snp 80.77 0/1 99 6 3 3 0.5 intronic rs2304829 CIB2 AR NM_006383 exon4 c.5854-214T>C 0.320288 0.1587 Uncertain 15_78403293_G->A 15 78403293 78403293 G A snp 80.77 0/1 99 6 3 3 0.5 intronic rs2304828 CIB2 AR NM_006383 exon4 c.5854-213G>A 0.0473243 0.1359 Uncertain 15_78403357_G->A 15 78403357 78403357 G A snp 229.77 0/1 99 14 5 9 0.64 intronic rs2304827 CIB2 AR NM_006383 exon4 c.5854-149G>A 0.0589058 0.1349 Uncertain 15_78423479_T->C 15 78423479 78423479 T C snp 4733.77 1/1 99 177 0 177 1.0 intronic rs8040395 CIB2 AR NM_001301224 exon5 c.25854-27T>C 0.41254 0.2589 0.443626 0.4642 0.3102 Uncertain 15_78423596_A->C 15 78423596 78423596 A C snp 2284.77 0/1 99 221 114 107 0.48 UTR5 rs11547207 CIB2 AR 0.287939 0.1359 0.289419 0.2771 0.1625 Uncertain 15_78441769_T->C 15 78441769 78441769 T C snp 620.77 0/1 99 41 16 25 0.61 exonic rs11555541 IDH3A AU synonymous SNV NM_005530 exon1 c.T24C p.S8S 0.533546 0.3165 0.570227 0.5861 0.4497 Uncertain 15_78452296_C->T 15 78452296 78452296 C T snp 617.77 0/1 99 36 13 23 0.64 intronic rs4886560 IDH3A AU NM_005530 exon4 c.10688-137C>T 0.244609 0.6012 Uncertain 15_78454795_T->C 15 78454795 78454795 T C snp 311.78 1/1 24 9 0 9 1.0 intronic rs7180687 IDH3A AU NM_005530 exon6 c.12964+86T>C 0.891174 0.8909 Uncertain 15_78457242_A->G 15 78457242 78457242 A G snp 786.77 0/1 99 52 22 30 0.58 intronic rs12904700 IDH3A AU NM_005530 exon9 c.15588-91A>G 0.373602 0.1865 Uncertain 15_78458485_T->C 15 78458485 78458485 T C snp 1003.77 0/1 99 59 25 34 0.58 intronic rs3816253 IDH3A AU NM_005530 exon10 c.16746-6T>C 0.375 0.1885 0.456388 0.4068 0.2064 Uncertain 15_78458797_C->T 15 78458797 78458797 C T snp 611.77 0/1 99 34 16 18 0.53 intronic rs2304825 IDH3A AU NM_005530 exon10 c.16899+153C>T 0.364816 0.1855 Uncertain 15_78466127_T->C 15 78466127 78466127 T C snp 1298.77 0/1 99 98 50 48 0.49 exonic rs2304824 ACSBG1 AU nonsynonymous SNV NM_001199377 exon13 c.A1885G p.M629V 0.526757 0.2867 0.563261 0.5024 0.3078 0.63 T 0.0 P -0.986 T 0.0 T 0.0 T Pathogenic 15_78474476_C->T 15 78474476 78474476 C T snp 1470.77 0/1 99 112 55 57 0.51 exonic rs2304823 ACSBG1 AU synonymous SNV NM_001199377 exon8 c.G894A p.T298T 0.0898562 0.1577 0.033523 0.0620 0.1775 Uncertain 15_78474517_T->C 15 78474517 78474517 T C snp 1861.77 1/1 99 67 0 67 1.0 intronic rs6495277 ACSBG1 AU NM_001199377 exon7 c.10702+30T>C 0.890775 0.8919 0.852366 0.8529 0.8921 Uncertain 15_78501420_-->CTGT 15 78501420 78501420 - CTGT indel 682.73 1/1 33 11 0 11 1.0 intronic rs139633551 ACSBG1 AU NM_001199377 exon13 c.36659+976insCTGT 0.421326 0.6617 Uncertain 15_78501433_T->C 15 78501433 78501433 T C snp 657.77 1/1 48 22 0 22 1.0 intronic rs3902931 ACSBG1 AU NM_001199377 exon13 c.36659+989T>C 0.421326 0.6627 Uncertain 15_78504662_A->G 15 78504662 78504662 A G snp 50.74 1/1 6 2 0 2 1.0 intronic rs4887017 ACSBG1 AU NM_001199377 exon13 c.36659+4218A>G 0.623802 0.7272 Uncertain 15_78504781_A->- 15 78504781 78504781 A - indel 1271.73 1/1 99 37 0 37 1.0 intronic rs10706612 ACSBG1 AU NM_001199377 exon13 c.36659+4337delA 0.642572 0.744 Uncertain 15_78526556_C->T 15 78526556 78526556 C T snp 77.77 0/1 99 7 4 3 0.43 intronic rs10162606 ACSBG1 AU NM_001199377 exon14 c.62927-156C>T 0.55651 0.6448 Uncertain 15_78556571_G->A 15 78556571 78556571 G A snp 229.77 0/1 99 14 4 10 0.71 UTR5 rs62007805 DNAJA4 AU 0.320887 0.3016 Uncertain 15_78556589_C->G 15 78556589 78556589 C G snp 762.77 1/1 57 26 0 26 1.0 UTR5 rs12898295 DNAJA4 AU 0.792133 0.8889 Uncertain 15_78556967_-->GCG 15 78556967 78556967 - GCG indel 320.73 0/1 99 18 10 8 0.44 intronic rs536756767 DNAJA4 AU NM_018602 exon2 c.443-131insGCG 0.320887 0.2897 Uncertain 15_78557005_A->G 15 78557005 78557005 A G snp 1655.77 1/1 99 50 0 50 1.0 UTR5 rs28484827 DNAJA4 AU 0.796526 0.8889 Uncertain 15_78557087_C->- 15 78557087 78557087 C - indel 6605.73 1/1 99 199 0 199 1.0 UTR5 rs66489434 DNAJA4 AU 0.999601 1 0.996143 0.9992 0.9989 Uncertain 15_78557720_C->G 15 78557720 78557720 C G snp 358.77 0/1 99 20 7 13 0.65 intronic rs62007832 DNAJA4 AU NM_001130182 exon1 c.132+483C>G 0.192093 0.1508 Uncertain 15_78558509_G->A 15 78558509 78558509 G A snp 2514.77 1/1 99 88 0 88 1.0 intronic rs2037347 DNAJA4 AU NM_001130182 exon1 c.132+1272G>A 0.796725 0.8879 0.828118 Uncertain 15_78563103_A->C 15 78563103 78563103 A C snp 142.77 0/1 99 18 11 7 0.39 intronic rs3169166 DNAJA4 AU NM_001130183 exon2 c.4435+84A>C 0.460264 0.5952 Uncertain 15_78565478_C->T 15 78565478 78565478 C T snp 1001.77 0/1 99 77 37 40 0.52 exonic rs7163689 DNAJA4 AU synonymous SNV NM_001130182 exon3 c.C355T p.L119L 0.432708 0.4306 0.483819 0.4810 0.4173 Uncertain 15_78567675_C->T 15 78567675 78567675 C T snp 503.77 1/1 39 13 0 13 1.0 intronic rs967820 DNAJA4 AU NM_001130183 exon5 c.9255-164C>T 0.96226 1 Uncertain 15_78572359_C->G 15 78572359 78572359 C G snp 5115.77 1/1 99 188 0 188 1.0 intronic rs9806426 DNAJA4 AU NM_001130183 exon6 c.13802-27C>G 0.964058 1 0.9774 1 Uncertain 15_78578659_T->G 15 78578659 78578659 T G snp 40.77 0/1 69 5 3 2 0.4 intronic rs7173851 WDR61 AU NM_001303247 exon3 c.2702+184T>G 0.500799 0.3859 Uncertain 15_78581892_C->T 15 78581892 78581892 C T snp 644.77 1/1 48 19 0 19 1.0 intronic rs1879153 WDR61 AU NM_001303247 exon5 c.6187-68C>T 0.970248 1 Uncertain 15_78581938_C->A 15 78581938 78581938 C A snp 508.77 0/1 99 60 40 20 0.33 intronic rs16969675 WDR61 AU NM_001303247 exon5 c.6187-22C>A 0.597644 0.4464 0.642934 0.6158 0.4495 Uncertain 15_78587112_TTG->- 15 78587112 78587114 TTG - indel 439.73 0/1 99 26 15 11 0.42 intronic rs112866096 WDR61 AU NM_001303247 exon9 c.11514-175_11514-173delTTG 0.597244 0.4474 Uncertain 15_78587910_A->G 15 78587910 78587910 A G snp 2832.77 1/1 99 102 0 102 1.0 intronic rs1040262 WDR61 AU NM_001303247 exon10 c.12243-106A>G 0.967053 0.999 0.9869 0.9995 Uncertain 15_78632830_C->G 15 78632830 78632830 C G snp 87.77 0/1 99 36 29 7 0.19 exonic rs1127472 CRABP1 AU synonymous SNV NM_004378 exon1 c.C60G p.L20L 0.532748 0.498 0.580814 0.6417 0.5075 Uncertain 15_78633595_T->G 15 78633595 78633595 T G snp 2307.77 0/1 99 198 97 101 0.51 intronic rs2139440 CRABP1 AU NM_004378 exon2 c.793+32T>G 0.81869 0.6716 0.869525 0.8328 0.7085 Uncertain 15_78730591_C->T 15 78730591 78730591 C T snp 1787.77 1/1 99 69 1 68 0.99 UTR5 rs954144 IREB2 AU 0.344249 0.502 0.368386 Uncertain 15_78758677_G->C 15 78758677 78758677 G C snp 1350.77 1/1 96 50 0 50 1.0 exonic rs2958720 IREB2 AU nonsynonymous SNV NM_004136 exon5 c.G475C p.V159L 0.977636 1 0.966790 0.9916 1 0.2 T 0.000 P -0.941 T 0.0 T 0.0 T Pathogenic 15_78758853_A->C 15 78758853 78758853 A C snp 444.77 1/1 33 16 0 16 1.0 intronic rs2938672 IREB2 AU NM_004136 exon5 c.28152+22A>C 0.972843 1 0.961319 0.9895 1 Uncertain 15_78758902_-->C 15 78758902 78758902 - C indel 217.8 1/1 18 6 0 6 1.0 intronic rs11372841 IREB2 AU NM_004136 exon5 c.28152+71insC 0.975839 1 Uncertain 15_78764285_A->G 15 78764285 78764285 A G snp 1260.77 0/1 99 88 43 45 0.51 intronic rs3817092 IREB2 AU NM_004136 exon7 c.33587+19A>G 0.148363 0.1657 0.160830 0.1568 0.1379 Uncertain 15_78764324_G->A 15 78764324 78764324 G A snp 697.77 0/1 99 44 21 23 0.52 intronic rs8036042 IREB2 AU NM_004136 exon7 c.33587+58G>A 0.143371 0.1657 Uncertain 15_78770917_G->A 15 78770917 78770917 G A snp 253.77 0/1 99 20 10 10 0.5 intronic rs78901746 IREB2 AU NM_004136 exon10 c.40060+178G>A 0.146965 0.1667 Uncertain 15_78777312_G->A 15 78777312 78777312 G A snp 1281.77 1/1 93 47 0 47 1.0 intronic rs9788758 IREB2 AU NM_004136 exon12 c.46583+50G>A 0.976038 1 0.964864 0.9909 1 Uncertain 15_78780104_T->C 15 78780104 78780104 T C snp 2540.77 1/1 99 103 1 102 0.99 exonic rs2230940 IREB2 AU nonsynonymous SNV NM_004136 exon14 c.T1739C p.I580T 0.976038 1 0.964787 0.9910 1 1 T 1.0 P -0.944 T 0.0 T 0.0 T Pathogenic 15_78786410_A->C 15 78786410 78786410 A C snp 2520.77 1/1 99 85 0 85 1.0 intronic rs4887060 IREB2 AU NM_004136 exon19 c.55719+12A>C 0.976438 1 0.965855 0.9915 1 Uncertain 15_78789488_C->T 15 78789488 78789488 C T snp 2013.77 0/1 99 188 100 88 0.47 exonic rs13180 IREB2 AU synonymous SNV NM_004136 exon21 c.C2616T p.A872A 0.43111 0.4633 0.511635 0.5439 0.4754 Uncertain 15_78789676_T->C 15 78789676 78789676 T C snp 581.77 0/1 99 45 24 21 0.47 intronic rs2292116 IREB2 AU NM_004136 exon21 c.58974+23T>C 0.148962 0.1667 0.160328 0.1716 0.1571 Uncertain 15_78825498_G->C 15 78825498 78825498 G C snp 765.77 1/1 57 20 0 20 1.0 intronic rs12907169 HYKK AU NM_001013619 exon5 c.20121-53G>C 0.236422 0.1528 Uncertain 15_78825562_C->T 15 78825562 78825562 C T snp 2815.77 1/1 99 96 0 96 1.0 exonic rs12906951 HYKK AU synonymous SNV NM_001013619 exon5 c.C672T p.H224H 0.236222 0.1528 0.338499 0.3398 0.1561 Uncertain 15_78857896_T->A 15 78857896 78857896 T A snp 1382.77 0/1 99 104 49 55 0.53 UTR5 rs503464 CHRNA5 AU 0.400958 0.4931 Uncertain 15_78873119_C->T 15 78873119 78873119 C T snp 338.77 0/1 88 15 4 11 0.73 intronic rs569207 CHRNA5 AU NM_000745 exon2 c.15091-33C>T 0.394569 0.4812 0.242062 0.3322 0.4741 Uncertain 15_78879242_G->A 15 78879242 78879242 G A snp 40.77 0/1 69 6 4 2 0.33 intronic rs555018 CHRNA5 AU NM_000745 exon3 c.20970+211G>A 0.723442 0.8343 Uncertain 15_78911261_T->C 15 78911261 78911261 T C snp 839.77 1/1 63 27 0 27 1.0 splicing rs2869547 CHRNA3 AU NM_001166694 exon5 c.25805+4T>C 0.986821 1 0.991370 0.9973 1 Pathogenic 15_78917399_A->G 15 78917399 78917399 A G snp 1685.77 0/1 99 149 80 69 0.46 UTR3 rs1948 CHRNB4 AU 0.694888 0.5188 0.6910 0.5290 Uncertain 15_79054773_G->A 15 79054773 79054773 G A snp 322.77 0/1 99 18 5 13 0.72 exonic rs78995047 ADAMTS7 AU synonymous SNV NM_014272 exon23 c.C4875T p.T1625T 0.0680911 0.12 0.043690 0.0549 0.1740 Uncertain 15_79054900_C->G 15 79054900 79054900 C G snp 628.77 0/1 99 41 16 25 0.61 exonic rs7495616 ADAMTS7 AU nonsynonymous SNV NM_014272 exon23 c.G4748C p.G1583A 0.666534 0.5913 0.730734 0.6628 0.6062 1 T 0.016 P -0.926 T 0.001 T 0.002 T Pathogenic 15_79055009_T->C 15 79055009 79055009 T C snp 88.77 0/1 67 7 2 5 0.71 intronic rs149889628 ADAMTS7 AU NM_014272 exon2 c.3145+102T>C 0.0325479 0.12 Uncertain 15_79058572_T->G 15 79058572 79058572 T G snp 442.77 1/1 33 16 0 16 1.0 exonic rs1809421 ADAMTS7 AU synonymous SNV NM_014272 exon19 c.A3681C p.R1227R 0.929313 0.9851 0.932778 0.9311 0.9871 Uncertain 15_79058923_G->A 15 79058923 79058923 G A snp 103.28 1/1 9 5 0 5 1.0 exonic rs1809422 ADAMTS7 AU synonymous SNV NM_014272 exon19 c.C3330T p.P1110P 0.947684 0.9177 0.976397 0.9750 0.9415 Uncertain 15_79059449_G->A 15 79059449 79059449 G A snp 374.77 0/1 99 31 13 18 0.58 intronic rs1810165 ADAMTS7 AU NM_014272 exon6 c.7631+56G>A 0.747404 0.7956 Uncertain 15_79059523_C->A 15 79059523 79059523 C A snp 43.77 0/1 56 5 2 3 0.6 intronic rs3894351 ADAMTS7 AU NM_014272 exon6 c.7631+130C>A 0.250599 0.2004 Uncertain 15_79059526_T->G 15 79059526 79059526 T G snp 43.77 0/1 62 4 2 2 0.5 intronic rs3894352 ADAMTS7 AU NM_014272 exon6 c.7631+133T>G 0.250799 0.2004 Uncertain 15_79064170_C->T 15 79064170 79064170 C T snp 386.77 0/1 99 45 24 21 0.47 exonic rs3784323 ADAMTS7 AU synonymous SNV NM_014272 exon15 c.G2133A p.G711G 0.0601038 0.122 0.036677 0.0254 0.1124 Uncertain 15_79065557_A->G 15 79065557 79065557 A G snp 136.77 0/1 99 157 138 19 0.12 intronic rs28450923 ADAMTS7 AU NM_014272 exon11 c.13783+12A>G 0.27496 0.4087 0.0692 0.2837 Uncertain 15_79065562_A->G 15 79065562 79065562 A G snp 3122.77 1/1 99 153 0 153 1.0 intronic rs8036224 ADAMTS7 AU NM_014272 exon11 c.13783+17A>G 0.997005 1 0.9968 0.9996 Uncertain 15_79065569_G->C 15 79065569 79065569 G C snp 150.77 0/1 99 149 131 18 0.12 intronic rs200885561 ADAMTS7 AU NM_014272 exon11 c.13783+24G>C 0.0017 0.0030 Uncertain 15_79068649_G->A 15 79068649 79068649 G A snp 37.77 0/1 66 11 8 3 0.27 exonic rs59275951 ADAMTS7 AU synonymous SNV NM_014272 exon11 c.C1587T p.P529P 0.0772764 0.121 0.055787 0.0303 0.1126 Uncertain 15_79069121_A->G 15 79069121 79069121 A G snp 451.77 0/1 99 66 38 28 0.42 exonic rs11854507 ADAMTS7 AU synonymous SNV NM_014272 exon10 c.T1530C p.A510A 0.253395 0.1399 0.332910 0.3373 0.1594 Uncertain 15_79069222_C->A 15 79069222 79069222 C A snp 68.77 0/1 97 10 6 4 0.4 intronic rs111354672 ADAMTS7 AU NM_014272 exon15 c.17421+39C>A 0.0766773 0.121 0.046245 0.0349 0.1073 Uncertain 15_79069734_G->T 15 79069734 79069734 G T snp 328.77 0/1 99 31 16 15 0.48 intronic rs7161774 ADAMTS7 AU NM_014272 exon16 c.18023-51G>T 0.745407 0.8601 0.645745 Uncertain 15_79070005_C->G 15 79070005 79070005 C G snp 464.53 0/1 3 17 2 15 0.88 intronic rs117851816 ADAMTS7 AU NM_014272 exon16 c.18168+75C>G 0.0353435 0.124 Uncertain 15_79083376_C->A 15 79083376 79083376 C A snp 118.77 0/1 99 13 6 7 0.54 intronic rs2277546 ADAMTS7 AU NM_014272 exon20 c.31719-105C>A 0.224042 0.0913 Uncertain 15_79083591_T->C 15 79083591 79083591 T C snp 322.77 0/1 99 42 25 17 0.4 intronic rs2277545 ADAMTS7 AU NM_014272 exon20 c.31803+26T>C 0.224241 0.0913 0.337802 0.3356 0.0934 Uncertain 15_79089007_T->C 15 79089007 79089007 T C snp 1626.77 0/1 99 180 103 77 0.43 exonic rs3743057 ADAMTS7 AU synonymous SNV NM_014272 exon4 c.A744G p.V248V 0.792532 0.8631 0.746956 0.7736 0.8787 Uncertain 15_79089111_A->G 15 79089111 79089111 A G snp 212.77 0/1 99 41 31 10 0.24 exonic rs3825807 ADAMTS7 AU nonsynonymous SNV NM_014272 exon4 c.T640C p.S214P 0.2502 0.1518 0.346492 0.3589 0.1554 0.28 T 0.0 P -0.957 T 0.0 T 0.001 T Pathogenic 15_79090204_G->A 15 79090204 79090204 G A snp 44.77 0/1 33 3 1 2 0.67 intronic rs3743056 ADAMTS7 AU NM_014272 exon22 c.38527-85G>A 0.0519169 0.1171 Uncertain 15_79092750_G->C 15 79092750 79092750 G C snp 1095.77 0/1 99 113 65 48 0.42 exonic rs7173267 ADAMTS7 AU synonymous SNV NM_014272 exon2 c.C240G p.A80A 0.248602 0.1518 0.327777 0.3511 0.1493 Uncertain 15_79092932_C->A 15 79092932 79092932 C A snp 1545.77 0/1 99 119 59 60 0.5 intronic rs79913558 ADAMTS7 AU NM_014272 exon23 c.41127+43C>A 0.0519169 0.1171 0.016541 0.0240 0.1260 Uncertain 15_79132814_T->C 15 79132814 79132814 T C snp 1839.77 1/1 99 56 0 56 1.0 intergenic rs7402877 ADAMTS7 AU 0.479832 0.625 Uncertain 15_79133026_C->T 15 79133026 79133026 C T snp 4499.77 1/1 99 160 1 159 0.99 intergenic rs6495341 ADAMTS7 AU 0.477835 0.62 0.4730 0.5588 Uncertain 15_79133038_C->T 15 79133038 79133038 C T snp 1779.77 0/1 99 133 62 71 0.53 intergenic rs6495342 ADAMTS7 AU 0.146166 0.3869 0.0116 0.3603 Uncertain 15_79168729_G->C 15 79168729 79168729 G C snp 556.77 0/1 99 41 19 22 0.54 intronic rs76121039 MORF4L1 AU NM_206839 exon2 c.5195-1825G>C 0.108027 0.3889 Uncertain 15_79168796_TGGG->- 15 79168796 79168799 TGGG - indel 3168.73 0/1 99 90 42 48 0.53 intronic rs141017220 MORF4L1 AU NM_206839 exon2 c.5195-1758_5195-1755delTGGG 0.108027 0.3889 Uncertain 15_79172816_A->G 15 79172816 79172816 A G snp 182.9 1/1 15 6 0 6 1.0 intronic rs201668612 MORF4L1 AU NM_206839 exon3 c.7494-37A>G 0.000399361 0.002 0.0001 0.0017 Uncertain 15_79177122_C->T 15 79177122 79177122 C T snp 88.28 1/1 9 3 0 3 1.0 intronic rs12905258 MORF4L1 AU NM_206839 exon4 c.11949-186C>T 0.992212 1 Uncertain 15_79178720_C->T 15 79178720 79178720 C T snp 893.77 0/1 99 85 51 34 0.4 intronic rs78027264 MORF4L1 AU NM_206839 exon5 c.13210+151C>T 0.128994 0.3889 Uncertain 15_79183305_T->C 15 79183305 79183305 T C snp 192.77 0/1 99 13 7 6 0.46 intronic rs4778952 MORF4L1 AU NM_001265605 exon6 c.3698-25T>C 0.117812 0.3889 0.011965 0.1051 0.4560 Uncertain 15_79186584_T->C 15 79186584 79186584 T C snp 1811.77 0/1 99 151 74 77 0.51 intronic rs16970207 MORF4L1 AU NM_001265605 exon10 c.6940+12T>C 0.129593 0.3889 0.024915 0.0554 0.3866 Uncertain 15_79186733_T->C 15 79186733 79186733 T C snp 273.77 0/1 99 12 4 8 0.67 intronic rs79987052 MORF4L1 AU NM_001265605 exon10 c.6940+161T>C 0.00379393 0.0179 Uncertain 15_79215311_A->C 15 79215311 79215311 A C snp 911.77 1/1 66 32 0 32 1.0 intronic rs2289693 CTSH AU NM_004390 exon2 c.863-23A>C 0.1873 0.5188 0.041224 0.0876 0.5052 Uncertain 15_79217606_G->A 15 79217606 79217606 G A snp 1441.77 0/1 99 111 55 56 0.5 intronic rs2289694 CTSH AU NM_004390 exon3 c.3204-69G>A 0.0471246 0.1389 Uncertain 15_79217690_G->C 15 79217690 79217690 G C snp 6785.77 1/1 99 250 1 249 1.0 exonic rs2044226 CTSH AU synonymous SNV NM_004390 exon10 c.C792G p.T264T 0.999601 1 0.999307 0.9999 1 Uncertain 15_79223681_G->A 15 79223681 79223681 G A snp 3303.77 1/1 99 105 0 105 1.0 intronic rs2289699 CTSH AU NM_004390 exon6 c.9321-111G>A 0.633387 0.9038 Uncertain 15_79224509_T->C 15 79224509 79224509 T C snp 366.77 0/1 99 17 5 12 0.71 intronic rs59238093 CTSH AU NM_004390 exon7 c.10242-204T>C 0.104233 0.3681 Uncertain 15_79224683_C->T 15 79224683 79224683 C T snp 2080.77 0/1 99 182 97 85 0.47 intronic rs2289700 CTSH AU NM_004390 exon7 c.10242-30C>T 0.306709 0.6389 0.180999 0.1768 0.6473 Uncertain 15_79225710_C->T 15 79225710 79225710 C T snp 641.77 0/1 99 49 24 25 0.51 intronic rs78840655 CTSH AU NM_004390 exon7 c.10329+910C>T 0.10623 0.3671 Uncertain 15_79225814_T->- 15 79225814 79225814 T - indel 4829.73 1/1 99 117 0 117 1.0 intronic rs3837715 CTSH AU NM_004390 exon7 c.10329+1014delT 0.480831 0.8333 0.2984 0.7463 Uncertain 15_79230092_A->G 15 79230092 79230092 A G snp 702.77 0/1 99 91 57 34 0.37 intronic rs16970296 CTSH AU NM_004390 exon10 c.15294+327A>G 0.0461262 0.1448 0.0368 0.0882 Uncertain 15_79231518_A->G 15 79231518 79231518 A G snp 1491.77 0/1 99 122 56 66 0.54 splicing rs11638844 CTSH AU NM_004390 exon11 c.17042+5A>G 0.480831 0.4663 0.538141 0.6064 0.4690 Pathogenic 15_79231526_-->G 15 79231526 79231526 - G indel 2573.73 0/1 99 120 53 67 0.56 intronic rs151024560 CTSH AU NM_004390 exon11 c.17042+13insG 0.104832 0.369 0.0478 0.3736 Uncertain 15_79231616_A->G 15 79231616 79231616 A G snp 809.77 0/1 99 75 42 33 0.44 intronic rs10400902 CTSH AU NM_004390 exon11 c.17042+103A>G 0.480831 0.4663 Uncertain 15_79237115_C->- 15 79237115 79237115 C - indel 1851.73 0/1 99 82 35 47 0.57 intronic rs3217526 CTSH AU NM_004390 exon12 c.22761-117delC 0.0535144 0.1488 Uncertain 15_79237404_GA->- 15 79237404 79237405 GA - indel 261.74 1/1 30 11 0 11 1.0 UTR5 rs142909197 CTSH AU 0.954673 1 Uncertain 15_79237405_A->- 15 79237405 79237405 A - indel 286.73 1/1 33 11 0 11 1.0 UTR5 rs60677861 CTSH AU Uncertain 15_79254480_T->A 15 79254480 79254480 T A snp 2033.77 1/1 99 71 0 71 1.0 UTR3 rs4778732 RASGRF1 AU 0.981629 1 0.978710 0.9934 1 Uncertain 15_79264082_A->G 15 79264082 79264082 A G snp 267.8 1/1 21 7 0 7 1.0 intronic rs4238513 RASGRF1 AU NM_153815 exon2 c.9722-125A>G 0.986422 1 Uncertain 15_79264097_G->A 15 79264097 79264097 G A snp 493.77 1/1 39 13 0 13 1.0 intronic rs4238514 RASGRF1 AU NM_153815 exon2 c.9722-110G>A 0.857228 0.8948 Uncertain 15_79277247_A->C 15 79277247 79277247 A C snp 6071.77 1/1 99 214 0 214 1.0 intronic rs4778750 RASGRF1 AU NM_153815 exon5 c.22863-101A>C 0.864217 1 0.8806 0.9992 Uncertain 15_79277608_G->A 15 79277608 79277608 G A snp 2995.77 1/1 99 100 0 100 1.0 intronic rs4778751 RASGRF1 AU NM_153815 exon5 c.23061+62G>A 0.998203 1 Uncertain 15_79288011_A->C 15 79288011 79288011 A C snp 2479.77 1/1 99 88 0 88 1.0 intronic rs6495359 RASGRF1 AU NM_153815 exon8 c.33596-70A>C 0.995008 1 Uncertain 15_79291262_C->T 15 79291262 79291262 C T snp 3626.77 1/1 99 132 1 131 0.99 intronic rs12914556 RASGRF1 AU NM_153815 exon10 c.36682+95C>T 0.486422 0.7192 Uncertain 15_79292289_C->T 15 79292289 79292289 C T snp 940.77 0/1 99 104 59 45 0.43 intronic rs12591384 RASGRF1 AU NM_153815 exon11 c.37770+34C>T 0.000199681 0.001 0.0004 0.0046 Uncertain 15_79296648_T->A 15 79296648 79296648 T A snp 54.74 1/1 6 2 0 2 1.0 intronic rs3825929 RASGRF1 AU NM_153815 exon13 c.42032+131T>A 0.340455 0.3026 Uncertain 15_79298523_G->A 15 79298523 79298523 G A snp 2485.77 1/1 99 97 0 97 1.0 exonic;splicing rs894780 RASGRF1;RASGRF1 UN synonymous SNV NM_002891 exon15 c.C2119T p.L707L 0.0662939 0.0972 0.075589 0.0865 0.1236 Uncertain 15_79307632_A->T 15 79307632 79307632 A T snp 1976.77 1/1 99 73 0 73 1.0 intronic rs3816283 RASGRF1 AU NM_001145648 exon15 c.53183-36A>T 0.081869 0.1012 0.105332 0.1084 0.1280 Uncertain 15_79310337_A->G 15 79310337 79310337 A G snp 3478.77 1/1 99 125 0 125 1.0 intronic rs11855004 RASGRF1 AU NM_001145648 exon16 c.55763+89A>G 0.167532 0.1696 Uncertain 15_79317602_C->T 15 79317602 79317602 C T snp 568.77 1/1 42 19 0 19 1.0 intronic rs2304992 RASGRF1 AU NM_001145648 exon18 c.63170-53C>T 0.150759 0.1468 Uncertain 15_79327686_C->T 15 79327686 79327686 C T snp 1211.77 1/1 90 35 0 35 1.0 intronic rs736554 RASGRF1 AU NM_001145648 exon22 c.73067+134C>T 0.729433 0.8185 Uncertain 15_79586361_T->C 15 79586361 79586361 T C snp 3986.77 1/1 99 146 0 146 1.0 exonic rs8038778 ANKRD34C AU synonymous SNV NM_001146341 exon2 c.T735C p.P245P 0.683706 0.7649 0.6390 0.7897 Uncertain 15_79605948_T->C 15 79605948 79605948 T C snp 206.84 1/1 18 6 0 6 1.0 intronic rs7170565 TMED3 AU NM_001301203 exon2 c.2507-150T>C 0.986222 1 Uncertain 15_79606137_G->A 15 79606137 79606137 G A snp 5209.77 1/1 99 169 0 169 1.0 exonic rs3825933 TMED3 AU synonymous SNV NM_001301203 exon2 c.G207A p.V69V 0.980232 0.9821 0.984050 0.9916 0.9787 Uncertain 15_79606408_C->T 15 79606408 79606408 C T snp 975.77 1/1 72 28 0 28 1.0 intronic rs3784544 TMED3 AU NM_001301203 exon2 c.2756+61C>T 0.979832 0.9841 Uncertain 15_79614206_T->A 15 79614206 79614206 T A snp 1473.77 1/1 99 43 0 43 1.0 intronic rs906440 TMED3 AU NM_007364 exon3 c.10728-113T>A 0.991613 1 Uncertain 15_79614224_A->G 15 79614224 79614224 A G snp 2025.77 1/1 99 59 0 59 1.0 intronic rs8037898 TMED3 AU NM_007364 exon3 c.10728-95A>G 0.254193 0.5823 Uncertain 15_79614418_A->G 15 79614418 79614418 A G snp 6683.77 1/1 99 249 0 249 1.0 exonic rs906439 TMED3 AU synonymous SNV NM_007364 exon3 c.A516G p.A172A 0.977636 1 0.976653 0.9940 1 Uncertain 15_79748341_C->T 15 79748341 79748341 C T snp 261.8 1/1 21 7 0 7 1.0 intronic rs60387955 KIAA1024 AU 0.303115 0.5694 Uncertain 15_79750127_A->G 15 79750127 79750127 A G snp 4944.77 1/1 99 165 0 165 1.0 exonic rs2902954 KIAA1024 AU synonymous SNV NM_015206 exon2 c.A1638G p.G546G 0.314696 0.5704 0.265141 0.3149 0.5468 Uncertain 15_79750307_T->C 15 79750307 79750307 T C snp 4199.77 1/1 99 136 0 136 1.0 exonic rs1004724 KIAA1024 AU synonymous SNV NM_015206 exon2 c.T1818C p.I606I 0.954673 0.9792 0.921251 0.9227 0.9676 Uncertain 15_80191343_G->A 15 80191343 80191343 G A snp 4948.77 1/1 99 198 2 196 0.99 exonic rs7257 ST20 AU nonsynonymous SNV NM_001100879 exon3 c.C170T p.P57L 0.419129 0.3085 0.485391 0.5131 0.3136 1 T 0.0 P -0.929 T 0.008 T 0.002 T Pathogenic 15_80191488_C->T 15 80191488 80191488 C T snp 1457.77 1/1 99 48 0 48 1.0 intronic rs12440609 ST20 AU NM_001199757 exon1 c.195+21C>T 0.213259 0.2986 0.157639 0.2375 0.3065 Uncertain 15_80214977_TGC->- 15 80214977 80214979 TGC - indel 690.73 1/1 36 12 0 12 1.0 intronic rs71151002 ST20 AU NM_001199757 exon3 c.24212-507_24212-505delTGC 0.336661 0.2569 Uncertain 15_80367831_G->C 15 80367831 80367831 G C snp 695.03 1/1 12 28 2 26 0.93 intronic rs2469600 ZFAND6 AU 0.66254 0.4762 Uncertain 15_80404928_T->C 15 80404928 80404928 T C snp 297.77 0/1 99 16 7 9 0.56 intronic rs150828384 ZFAND6 AU 0.0852636 0.2143 Uncertain 15_80405098_C->G 15 80405098 80405098 C G snp 6492.77 1/1 99 233 0 233 1.0 intronic rs12594035 ZFAND6 AU 0.648363 0.4792 0.7176 0.5606 Uncertain 15_80412856_G->A 15 80412856 80412856 G A snp 704.77 0/1 99 100 63 37 0.37 intronic rs76674514 ZFAND6 AU NM_001242916 exon3 c.154+16G>A 0.0854633 0.2153 0.016377 0.0430 0.2213 ID=COSN165010;OCCURENCE=1(breast) Uncertain 15_80412863_G->A 15 80412863 80412863 G A snp 670.77 0/1 99 97 61 36 0.37 intronic rs74897388 ZFAND6 AU NM_001242916 exon3 c.154+23G>A 0.0854633 0.2153 0.017149 0.0434 0.2212 Uncertain 15_80413935_C->T 15 80413935 80413935 C T snp 304.77 0/1 99 28 15 13 0.46 intronic rs934003 ZFAND6 AU NM_001242916 exon4 c.1367-118C>T 0.558307 0.2629 Uncertain 15_80413994_A->T 15 80413994 80413994 A T snp 503.77 0/1 99 57 33 24 0.42 intronic rs12915043 ZFAND6 AU NM_001242916 exon4 c.1367-59A>T 0.121006 0.1736 Uncertain 15_80414173_C->G 15 80414173 80414173 C G snp 1350.77 1/1 96 49 0 49 1.0 intronic rs1522636 ZFAND6 AU NM_001242916 exon4 c.1476+11C>G 0.66254 0.4782 0.689942 0.7331 0.5126 Uncertain 15_80445512_-->G 15 80445512 80445512 - G indel 5552.73 1/1 99 227 1 226 1.0 intronic rs534453827 FAH AR NM_000137 exon1 c.81+35insG 0.352037 0.5258 0.220128 0.1685 0.2785 Uncertain 15_80445515_GAGTGGAGTGGAGTGGAGT->- 15 80445515 80445533 GAGTGGAGTGGAGTGGAGT - indel 20897.7 0/1 99 225 93 132 0.59 intronic rs554422109 FAH AR NM_000137 exon1 c.81+38_81+56delGAGTGGAGTGGAGTGGAGT 0.005990 0.0890 0.2835 Uncertain 15_80450328_T->C 15 80450328 80450328 T C snp 385.77 1/1 30 11 0 11 1.0 intronic rs1370276 FAH AR NM_000137 exon2 c.5005-73T>C 0.697484 0.872 Uncertain 15_80450389_G->A 15 80450389 80450389 G A snp 1082.77 1/1 78 37 0 37 1.0 intronic rs1370275 FAH AR NM_000137 exon2 c.5005-12G>A 0.506789 0.7629 0.446332 0.5141 0.7611 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000078139.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 15_80450724_G->A 15 80450724 80450724 G A snp 40.77 0/1 69 7 4 3 0.43 intronic rs16971784 FAH AR NM_000137 exon2 c.5116+212G>A 0.0890575 0.256 Uncertain 15_80452075_T->C 15 80452075 80452075 T C snp 4958.77 1/1 99 186 0 186 1.0 intronic rs1370274 FAH AR NM_000137 exon3 c.6701-22T>C 0.632987 0.7867 0.602645 0.6098 0.7835 Uncertain 15_80452268_G->A 15 80452268 80452268 G A snp 1376.77 1/1 99 39 0 39 1.0 intronic rs1370273 FAH AR NM_000137 exon3 c.6823+49G>A 0.640375 0.7857 0.608104 0.6173 0.7836 Uncertain 15_80452886_T->G 15 80452886 80452886 T G snp 1095.77 0/1 99 101 54 47 0.47 intronic rs733679 FAH AR NM_000137 exon4 c.7405+85T>G 0.415935 0.504 0.4820 0.5254 Uncertain 15_80454707_G->A 15 80454707 80454707 G A snp 2161.77 0/1 99 194 100 94 0.48 intronic rs2278204 FAH AR NM_000137 exon5 c.9282+29G>A 0.0892572 0.2569 0.003306 0.0478 0.2561 Uncertain 15_80454745_T->C 15 80454745 80454745 T C snp 1958.77 0/1 99 161 74 87 0.54 intronic rs2114716 FAH AR NM_000137 exon5 c.9282+67T>C 0.417133 0.505 0.4676 0.5091 Uncertain 15_80460524_A->G 15 80460524 80460524 A G snp 3197.84 1/1 99 88 0 88 1.0 intronic rs1545119 FAH AR NM_000137 exon6 c.15095+33A>G 0.778754 0.878 0.727049 0.7391 0.8832 Uncertain 15_80464669_A->G 15 80464669 80464669 A G snp 771.77 0/1 99 45 16 29 0.64 intronic rs7180031 FAH AR NM_000137 exon8 c.19194+79A>G 0.236422 0.2966 Uncertain 15_80465249_A->- 15 80465249 80465249 A - indel 5434.73 1/1 99 121 0 121 1.0 intronic rs3752694 FAH AR NM_000137 exon9 c.19959-106delA 0.552716 0.7688 Uncertain 15_80465300_G->A 15 80465300 80465300 G A snp 2670.77 0/1 99 231 120 111 0.48 intronic rs3752693 FAH AR NM_000137 exon9 c.19959-55G>A 0.0764776 0.1478 Uncertain 15_80467626_G->T 15 80467626 80467626 G T snp 338.78 1/1 27 9 0 9 1.0 intronic rs1863768 FAH AR NM_000137 exon10 c.22037+193G>T 0.553115 0.7679 Uncertain 15_80470040_G->A 15 80470040 80470040 G A snp 2844.77 1/1 99 90 0 90 1.0 intronic rs2162550 FAH AR NM_000137 exon11 c.24529+115G>A 0.326877 0.5605 Uncertain 15_80472431_C->A 15 80472431 80472431 C A snp 3639.77 1/1 99 134 0 134 1.0 intronic rs2043691 FAH AR NM_000137 exon12 c.27069-34C>A 0.670327 0.8542 0.594034 0.6557 0.8639 Uncertain 15_80478639_C->T 15 80478639 80478639 C T snp 1270.77 0/1 99 99 46 53 0.54 UTR3 rs113381157 FAH AR 0.0958466 0.2639 Uncertain 15_80743350_C->T 15 80743350 80743350 C T snp 2558.77 1/1 99 86 0 86 1.0 intronic rs2278708 ARNT2 AR NM_014862 exon2 c.46478+15C>T 0.0646965 0.1448 0.029602 0.0522 0.1730 Uncertain 15_80762527_C->- 15 80762527 80762527 C - indel 3713.73 1/1 99 102 1 101 0.99 intronic rs398028106 ARNT2 AR NM_014862 exon4 c.65701-31delC 0.825879 0.9385 0.7918 0.9549 Uncertain 15_80762804_C->G 15 80762804 80762804 C G snp 955.77 1/1 69 28 0 28 1.0 intronic rs8033507 ARNT2 AR NM_014862 exon4 c.65915+32C>G 0.182708 0.1518 0.127018 0.0711 0.1733 Uncertain 15_80767216_T->A 15 80767216 80767216 T A snp 38.77 0/1 67 5 3 2 0.4 intronic rs56914848 ARNT2 AR NM_014862 exon5 c.70493-134T>A 0.113419 0.122 Uncertain 15_80806163_A->G 15 80806163 80806163 A G snp 404.77 0/1 99 30 16 14 0.47 intronic rs137953103 ARNT2 AR NM_014862 exon7 c.109394-88A>G 0.00519169 0.0198 Uncertain 15_80806183_T->C 15 80806183 80806183 T C snp 436.77 0/1 99 41 23 18 0.44 intronic rs11072922 ARNT2 AR NM_014862 exon7 c.109394-68T>C 0.78095 0.8383 Uncertain 15_80845136_C->T 15 80845136 80845136 C T snp 1333.77 0/1 99 118 60 58 0.49 intronic rs3924894 ARNT2 AR NM_014862 exon10 c.148258+21C>T 0.398163 0.248 0.033369 0.3667 0.2593 Uncertain 15_80845137_T->C 15 80845137 80845137 T C snp 1350.77 0/1 99 117 59 58 0.5 intronic rs3924893 ARNT2 AR NM_014862 exon10 c.148258+22T>C 0.398163 0.248 0.037060 0.3668 0.2596 Uncertain 15_80866612_G->A 15 80866612 80866612 G A snp 593.77 0/1 99 43 21 22 0.51 intronic rs74900484 ARNT2 AR NM_014862 exon13 c.169704+51G>A 0.117612 0.3234 0.003076 0.0566 0.3128 Uncertain 15_80886191_T->C 15 80886191 80886191 T C snp 129.03 1/1 12 4 0 4 1.0 UTR3 rs8033706 ARNT2 AR 0.804712 0.9444 Uncertain 15_80987812_T->C 15 80987812 80987812 T C snp 1862.77 1/1 99 76 0 76 1.0 exonic rs62007944 ABHD17C AU synonymous SNV NM_021214 exon1 c.T42C p.G14G 0.977436 1 0.981753 0.9982 1 Uncertain 15_81166482_G->A 15 81166482 81166482 G A snp 108.77 0/1 95 7 3 4 0.57 intronic rs7174325 CEMIP AU NM_001293304 exon3 c.94+168G>A 0.344649 0.5992 Uncertain 15_81179926_G->T 15 81179926 81179926 G T snp 983.77 0/1 99 61 22 39 0.64 intronic rs2271159 CEMIP AU NM_001293304 exon8 c.13814-108G>T 0.294129 0.4246 Uncertain 15_81199236_A->G 15 81199236 81199236 A G snp 1630.77 1/1 99 52 0 52 1.0 intronic rs2271164 CEMIP AU NM_001293304 exon13 c.32959+57A>G 0.328874 0.2579 Uncertain 15_81212608_G->A 15 81212608 81212608 G A snp 7079.77 1/1 99 244 0 244 1.0 exonic rs1553647 CEMIP AU synonymous SNV NM_018689 exon14 c.G1971A p.P657P 0.988419 1 0.988390 0.9961 1 Uncertain 15_81214611_A->C 15 81214611 81214611 A C snp 751.77 1/1 57 19 0 19 1.0 intronic rs2271162 CEMIP AU NM_001293304 exon17 c.48258+133A>C 0.195088 0.2669 Uncertain 15_81217848_C->T 15 81217848 81217848 C T snp 829.77 1/1 63 23 0 23 1.0 intronic rs2271163 CEMIP AU NM_001293304 exon19 c.51744-116C>T 0.777556 0.8363 Uncertain 15_81410106_G->A 15 81410106 81410106 G A snp 2493.77 0/1 99 250 133 117 0.47 intergenic rs1533055 MESDC1 AU 0.423123 0.2599 Uncertain 15_81410202_C->T 15 81410202 81410202 C T snp 2422.77 0/1 99 232 131 101 0.44 intergenic rs2280440 MESDC1 AU 0.42472 0.2599 Uncertain 15_81410488_G->A 15 81410488 81410488 G A snp 253.77 0/1 99 59 45 14 0.24 intergenic rs2250029 MESDC1 AU 0.440895 0.248 Uncertain 15_81426539_G->C 15 81426539 81426539 G C snp 383.77 1/1 30 10 0 10 1.0 upstream rs2683255 C15orf26 AU 0.584665 0.4276 Uncertain 15_81429012_C->T 15 81429012 81429012 C T snp 2936.77 0/1 99 246 129 117 0.48 exonic rs371138907 C15orf26 AU synonymous SNV NM_173528 exon3 c.C315T p.D105D 0.000199681 0.001 0.000080 6.624e-05 0.0001 ID=COSM3401955;OCCURENCE=1(central_nervous_system),1(ovary) Uncertain 15_81440147_-->A 15 81440147 81440147 - A indel 334.73 0/1 99 36 18 18 0.5 intronic rs11395672 C15orf26 AU NM_173528 exon6 c.13528-51insA 0.355232 0.3631 Uncertain 15_81440818_C->T 15 81440818 81440818 C T snp 1910.77 0/1 99 127 51 76 0.6 exonic rs2279997 C15orf26 AU nonsynonymous SNV NM_173528 exon7 c.C850T p.P284S 0.0509185 0.1448 0.000562 0.0263 0.1521 0.04 T 0.000 P -0.957 T 0.562 P 0.346 P Pathogenic 15_81489324_G->A 15 81489324 81489324 G A snp 121.77 0/1 99 9 4 5 0.56 intergenic rs8037800 C15orf26 AU 0.263978 0.4286 Uncertain 15_81518209_G->A 15 81518209 81518209 G A snp 77.77 0/1 99 8 5 3 0.38 intergenic rs980618 C15orf26 AU 0.539337 0.7054 Uncertain 15_81578189_A->G 15 81578189 81578189 A G snp 2424.77 0/1 99 236 130 106 0.45 intergenic rs75838746 C15orf26 AU 0.0788738 0.12 0.063000 0.0864 0.1176 Uncertain 15_81582406_G->C 15 81582406 81582406 G C snp 354.77 0/1 99 24 11 13 0.54 intergenic rs11632576 C15orf26 AU 0.478435 0.5367 Uncertain 15_81582868_G->A 15 81582868 81582868 G A snp 659.77 0/1 99 76 45 31 0.41 intergenic rs8031107 C15orf26 AU 0.585463 0.5407 0.520985 0.5110 0.5373 Uncertain 15_81584389_C->T 15 81584389 81584389 C T snp 829.77 0/1 99 38 12 26 0.68 intergenic rs4072680 C15orf26 AU 0.548722 0.5188 Uncertain 15_81589448_G->A 15 81589448 81589448 G A snp 335.77 0/1 99 26 13 13 0.5 intronic rs17875502 IL16 AU NM_172217 exon12 c.71679+29G>A 0.200879 0.244 0.222406 0.2242 0.2659 Uncertain 15_81600995_A->G 15 81600995 81600995 A G snp 1938.77 1/1 99 74 0 74 1.0 exonic rs4238526 IL16 AU synonymous SNV NM_004513 exon7 c.A1752G p.L584L 0.992812 0.9683 0.999616 0.9966 0.9689 Uncertain 15_81610592_A->C 15 81610592 81610592 A C snp 381.77 0/1 99 41 24 17 0.41 intronic rs4503751 STARD5 AU NM_181900 exon2 c.5153-157A>C 0.495607 0.5357 Uncertain 15_81624768_C->T 15 81624768 81624768 C T snp 3322.77 1/1 99 117 0 117 1.0 exonic rs4417518 TMC3 AU nonsynonymous SNV NM_001080532 exon22 c.G3295A p.D1099N 0.751997 0.7192 0.869829 0.7968 0.7104 1 T 0.0 P -0.980 T 0.0 T 0.0 T Pathogenic 15_81625336_G->A 15 81625336 81625336 G A snp 2790.77 0/1 99 235 120 115 0.49 exonic rs77430896 TMC3 AU synonymous SNV NM_001080532 exon22 c.C2727T p.F909F 0.0625 0.1429 0.029596 0.0478 0.1513 Uncertain 15_81625385_C->T 15 81625385 81625385 C T snp 2955.77 0/1 99 227 101 126 0.56 exonic rs11636318 TMC3 AU nonsynonymous SNV NM_001080532 exon22 c.G2678A p.C893Y 0.471046 0.4782 0.622665 0.6456 0.4443 0.03 T 0.0 P -0.943 T 0.0 T 0.0 T Pathogenic 15_81630421_G->A 15 81630421 81630421 G A snp 54.74 1/1 6 2 0 2 1.0 ncRNA_intronic rs3922930 TMC3-AS1 AU 0.532348 0.5466 Uncertain 15_81631188_G->A 15 81631188 81631188 G A snp 177.77 0/1 99 19 11 8 0.42 ncRNA_intronic rs116985010 TMC3-AS1 AU 0.00678914 0.0337 Uncertain 15_81631681_C->T 15 81631681 81631681 C T snp 1922.77 1/1 99 58 0 58 1.0 ncRNA_intronic rs4489964 TMC3-AS1 AU 0.755391 0.7292 Uncertain 15_81631863_G->A 15 81631863 81631863 G A snp 2211.77 0/1 99 198 95 103 0.52 ncRNA_intronic rs74792181 TMC3-AS1 AU 0.0613019 0.1518 0.027119 0.0629 0.2039 Uncertain 15_81636267_C->T 15 81636267 81636267 C T snp 5979.77 1/1 99 218 0 218 1.0 exonic rs7161991 TMC3 AU synonymous SNV NM_001080532 exon14 c.G1638A p.E546E 0.752995 0.7232 0.870028 0.7866 0.7063 Uncertain 15_81637284_G->A 15 81637284 81637284 G A snp 831.77 0/1 99 92 54 38 0.41 exonic rs4278705 TMC3 AU synonymous SNV NM_001080532 exon13 c.C1341T p.A447A 0.464657 0.4504 0.623573 0.6578 0.4470 Uncertain 15_81642095_A->G 15 81642095 81642095 A G snp 238.77 0/1 99 17 9 8 0.47 ncRNA_intronic rs78529642 TMC3-AS1 AU 0.0874601 0.1508 Uncertain 15_81649001_T->C 15 81649001 81649001 T C snp 1111.77 1/1 45 39 1 38 0.97 ncRNA_intronic rs7167034 TMC3-AS1 AU 0.758187 0.7351 Uncertain 15_81651003_G->A 15 81651003 81651003 G A snp 31.77 0/1 31 3 1 2 0.67 ncRNA_intronic rs7178648 TMC3-AS1 AU 0.561102 0.6101 Uncertain 15_81651009_A->T 15 81651009 81651009 A T snp 46.74 1/1 6 2 0 2 1.0 ncRNA_intronic rs78890064 TMC3-AS1 AU 0.0626997 0.1508 Uncertain 15_81651624_A->G 15 81651624 81651624 A G snp 733.77 0/1 99 53 26 27 0.51 ncRNA_intronic rs55904609 TMC3-AS1 AU 0.135383 0.2272 Uncertain 15_81651651_G->A 15 81651651 81651651 G A snp 839.77 0/1 99 77 41 36 0.47 ncRNA_intronic rs12903128 TMC3-AS1 AU 0.417332 0.3819 Uncertain 15_81651928_C->T 15 81651928 81651928 C T snp 42.77 0/1 31 3 1 2 0.67 ncRNA_intronic rs61655027 TMC3-AS1 AU 0.0611022 0.1508 Uncertain 15_81654757_-->G 15 81654757 81654757 - G indel 190.73 0/1 99 23 16 7 0.3 ncRNA_intronic rs397717230 TMC3-AS1 AU 0.570687 0.5784 Uncertain 15_81665211_-->GTGT 15 81665211 81665211 - GTGT indel 325.77 1/1 21 22 0 22 1.0 ncRNA_intronic rs71451583 TMC3-AS1 AU Uncertain 15_81666529_G->A 15 81666529 81666529 G A snp 511.77 0/1 99 44 24 20 0.45 ncRNA_intronic rs11634486 TMC3-AS1 AU 0.426917 0.381 Uncertain 15_82335444_G->A 15 82335444 82335444 G A snp 615.77 1/1 48 17 0 17 1.0 UTR3 rs11073028 MEX3B AU 1 1 Uncertain 15_82384094_C->G 15 82384094 82384094 C G snp 644.77 0/1 99 62 34 28 0.45 ncRNA_exonic rs7496044 LINC01583 AU 0.0858626 0.1181 0.0202 0.1439 Uncertain 15_82387776_T->C 15 82387776 82387776 T C snp 1765.77 0/1 99 123 46 77 0.63 ncRNA_intronic rs1532750 LINC01583 AU 0.432109 0.5526 0.3776 0.5227 Uncertain 15_82387951_G->C 15 82387951 82387951 G C snp 2103.77 1/1 99 60 0 60 1.0 ncRNA_exonic rs1969090 LINC01583 AU 0.734625 0.8204 Uncertain 15_82431219_A->G 15 82431219 82431219 A G snp 870.77 0/1 99 60 28 32 0.53 intronic rs2457497 EFTUD1 AU NM_024580 exon2 c.8470+36A>G 0.784744 0.8373 0.802288 0.7790 0.8178 Uncertain 15_82444437_A->G 15 82444437 82444437 A G snp 3242.77 0/1 99 250 127 123 0.49 exonic rs905450 EFTUD1 AU synonymous SNV NM_001040610 exon16 c.T2205C p.G735G 0.785543 0.8353 0.807299 0.7775 0.8102 Uncertain 15_82512429_C->G 15 82512429 82512429 C G snp 1718.77 1/1 99 58 0 58 1.0 exonic rs2292189 EFTUD1 AU nonsynonymous SNV NM_001040610 exon11 c.G1281C p.E427D 0.778954 0.8532 0.7233 0.8312 0.63 T 0.0 P -1.010 T 0.0 T 0.005 T Pathogenic 15_82521192_C->T 15 82521192 82521192 C T snp 278.77 0/1 50 12 2 10 0.83 intronic rs12594303 EFTUD1 AU NM_024580 exon12 c.98661-182C>T 0.122204 0.3373 Uncertain 15_82523358_G->A 15 82523358 82523358 G A snp 786.77 0/1 99 56 24 32 0.57 intronic rs11073036 EFTUD1 AU NM_024580 exon13 c.100599+46G>A 0.267173 0.1696 0.230880 0.2464 0.1953 Uncertain 15_82523405_A->G 15 82523405 82523405 A G snp 278.77 0/1 99 21 11 10 0.48 intronic rs12324875 EFTUD1 AU NM_024580 exon13 c.100599+93A>G 0.191294 0.1657 Uncertain 15_82530630_A->G 15 82530630 82530630 A G snp 867.77 0/1 99 61 32 29 0.48 intronic rs1972460 EFTUD1 AU NM_024580 exon14 c.107934-17A>G 0.353035 0.1706 0.416385 0.4146 0.1960 Uncertain 15_82532963_G->T 15 82532963 82532963 G T snp 292.77 0/1 99 22 12 10 0.45 intronic rs3759800 EFTUD1 AU NM_024580 exon15 c.110183+67G>T Uncertain 15_82544927_C->T 15 82544927 82544927 C T snp 870.77 0/1 99 59 28 31 0.53 intronic rs3902959 EFTUD1 AU NM_024580 exon17 c.122318-104C>T 0.41873 0.2004 Uncertain 15_82545214_A->T 15 82545214 82545214 A T snp 275.77 0/1 99 16 6 10 0.63 intronic rs4344697 EFTUD1 AU NM_024580 exon17 c.122403+98A>T 0.636581 0.4147 Uncertain 15_82555242_A->G 15 82555242 82555242 A G snp 2053.77 0/1 99 196 102 94 0.48 exonic rs11631813 SAXO2 AU nonsynonymous SNV NM_001008226 exon1 c.A22G p.S8G 0.207867 0.1637 0.161717 0.2836 0.3016 0.95 T 1.000 P -0.962 T 0.042 T 0.029 T Pathogenic 15_82558034_G->C 15 82558034 82558034 G C snp 102.77 0/1 99 17 13 4 0.24 intronic rs3858954 SAXO2 AU NM_001008226 exon1 c.53+2761G>C 0.651757 0.4147 0.6304 0.3561 Uncertain 15_82563991_C->T 15 82563991 82563991 C T snp 1440.77 0/1 99 135 72 63 0.47 exonic rs16973457 SAXO2 AU nonsynonymous SNV NM_001008226 exon2 c.C101T p.P34L 0.373802 0.1994 0.462710 0.4470 0.2147 0.3 T 0.976 P -0.907 T 0.936 T 0.704 D Pathogenic 15_82574799_T->C 15 82574799 82574799 T C snp 1489.77 0/1 99 150 85 65 0.43 exonic rs149395104 SAXO2 AU nonsynonymous SNV NM_001008226 exon3 c.T593C p.L198P 0.00399361 0.0198 0.000308 0.0022 0.0302 0.29 T 0.977 D -1.019 T 0.545 P 0.321 P Pathogenic 15_82574879_T->C 15 82574879 82574879 T C snp 1167.77 0/1 99 85 45 40 0.47 exonic rs11630197 SAXO2 AU nonsynonymous SNV NM_001008226 exon3 c.T673C p.W225R 0.234824 0.1647 0.225742 0.2535 0.1902 0.33 T 1.000 P -1.009 T 1.0 D 0.998 D Pathogenic 15_83215251_T->C 15 83215251 83215251 T C snp 1680.77 0/1 99 163 85 78 0.48 exonic rs1267657 CPEB1 AU synonymous SNV NM_001079535 exon9 c.A1290G p.L430L 0.441494 0.4663 0.385154 0.3991 0.4777 Uncertain 15_83218165_C->T 15 83218165 83218165 C T snp 497.77 0/1 99 44 25 19 0.43 intronic rs2277566 CPEB1 AU NM_001288819 exon4 c.4868-44C>T 0.00838658 0.0397 0.000082 0.0034 0.0443 Uncertain 15_83224696_C->T 15 83224696 83224696 C T snp 3349.77 1/1 99 125 0 125 1.0 exonic rs1145171 CPEB1 AU synonymous SNV NM_001079535 exon3 c.G558A p.P186P 1 1 1 1 Uncertain 15_83230905_T->- 15 83230905 83230905 T - indel 392.73 0/1 99 126 67 59 0.47 intronic rs66642827 CPEB1 AU NM_001288819 exon9 c.13395+4169delT 0.348842 0.37 0.4308 0.4815 Uncertain 15_83240293_A->C 15 83240293 83240293 A C snp 3648.77 1/1 99 133 0 133 1.0 UTR5 rs783544 CPEB1 AU 0.793331 0.7817 0.818849 0.7488 0.7948 Uncertain 15_83297138_C->T 15 83297138 83297138 C T snp 1080.77 0/1 99 123 71 52 0.42 intronic rs10400906 CPEB1 AU NM_001288819 exon11 c.82777+1020C>T 0.46226 0.4673 0.4674 0.5163 Uncertain 15_83331155_C->T 15 83331155 83331155 C T snp 31.77 0/1 60 9 7 2 0.22 ncRNA_intronic rs2278355 CPEB1-AS1 AU 0.496406 0.5179 Uncertain 15_83334419_T->C 15 83334419 83334419 T C snp 1227.77 0/1 99 101 49 52 0.51 ncRNA_intronic rs7494860 CPEB1-AS1 AU 0.503395 0.5337 Uncertain 15_83358388_A->G 15 83358388 83358388 A G snp 40.77 0/1 69 6 4 2 0.33 ncRNA_intronic rs17841171 CPEB1-AS1 AU 0.103834 0.3135 Uncertain 15_83441012_C->A 15 83441012 83441012 C A snp 1421.77 0/1 99 90 33 57 0.63 intronic rs1105287 FSD2 AU NM_001281806 exon6 c.12881+32C>A 0.187101 0.2778 0.122200 0.2356 0.3248 Uncertain 15_83447631_T->G 15 83447631 83447631 T G snp 2294.77 0/1 99 186 85 101 0.54 exonic rs4779061 FSD2 AU nonsynonymous SNV NM_001007122 exon6 c.A998C p.K333T 0.18111 0.248 0.124579 0.1945 0.2312 0.29 T 0.004 P -1.068 T 0.242 T 0.079 T Pathogenic 15_83455137_A->G 15 83455137 83455137 A G snp 670.77 0/1 99 74 45 29 0.39 intronic rs11259947 FSD2 AU NM_001281806 exon10 c.27163-125A>G 0.478235 0.503 Uncertain 15_83499665_G->A 15 83499665 83499665 G A snp 719.77 0/1 99 91 51 40 0.44 exonic rs3814282 WHAMM AU synonymous SNV NM_001080435 exon9 c.G1956A p.P652P 0.177316 0.2044 0.119863 0.1932 0.2103 Uncertain 15_83499766_G->A 15 83499766 83499766 G A snp 1201.77 0/1 99 125 75 50 0.4 exonic rs3814281 WHAMM AU nonsynonymous SNV NM_001080435 exon9 c.G2057A p.R686H 0.176518 0.2044 0.123036 0.1652 0.1826 0.57 T 0.0 P -0.929 T 0.007 T 0.002 T Pathogenic 15_83521036_C->T 15 83521036 83521036 C T snp 1931.77 0/1 99 166 85 81 0.49 intronic rs1256429 HOMER2 AD NM_199330 exon3 c.2538+32C>T 0.826877 0.8482 0.827956 0.7929 0.8194 Uncertain 15_83523368_C->G 15 83523368 83523368 C G snp 3534.77 1/1 99 118 0 118 1.0 intronic rs1256426 HOMER2 AD NM_199330 exon4 c.4929-27C>G 0.483227 0.7361 0.428211 0.5148 0.7348 Uncertain 15_83528056_-->T 15 83528056 83528056 - T indel 129.8 1/1 18 8 0 8 1.0 intronic rs397746891 HOMER2 AD NM_199330 exon5 c.9454+136insT 0.775759 0.8909 Uncertain 15_83532878_A->- 15 83532878 83532878 A - indel 2979.73 0/1 99 188 107 81 0.43 intronic rs3216752 HOMER2 AD NM_199330 exon6 c.14452-40delA 0.00758786 0.0327 0.0025 0.0320 Uncertain 15_83735450_GCCCG->- 15 83735450 83735454 GCCCG - indel 846.73 1/1 39 13 0 13 1.0 intronic rs550569208 BTBD1 AU NM_025238 exon8 c.48684-52_48684-48delGCCCG 0.516773 0.5119 Uncertain 15_84241282_C->G 15 84241282 84241282 C G snp 1500.77 1/1 67 62 2 60 0.97 intronic rs2303825 SH3GL3 AU NM_001301109 exon8 c.81731-34C>G 0.0684904 0.12 0.037527 0.0653 0.1465 Uncertain 15_84255758_T->C 15 84255758 84255758 T C snp 749.77 1/1 54 34 0 34 1.0 exonic rs17158793 SH3GL3 AU synonymous SNV NM_003027 exon7 c.T648C p.A216A 0.0772764 0.1359 0.052360 0.0961 0.1684 Uncertain 15_84373319_-->AG 15 84373319 84373319 - AG indel 2547.73 1/1 99 47 0 47 1.0 intronic rs3079595 ADAMTSL3 AU NM_207517 exon3 c.48747+59insAG 0.909944 0.9702 Uncertain 15_84442272_T->C 15 84442272 84442272 T C snp 394.77 0/1 99 33 19 14 0.42 splicing rs75442575 ADAMTSL3 AU NM_207517 exon4 c.117761-2T>C 0.0898562 0.2063 0.054590 0.0714 0.1763 Pathogenic 15_84473326_T->- 15 84473326 84473326 T - indel 52.73 0/1 34 10 3 7 0.7 intronic rs749780231 ADAMTSL3 AU NM_207517 exon5 c.148888-75delT Uncertain 15_84473531_G->A 15 84473531 84473531 G A snp 646.77 1/1 48 25 0 25 1.0 intronic rs7179507 ADAMTSL3 AU NM_207517 exon5 c.148934+84G>A 0.876597 1 Uncertain 15_84488636_A->G 15 84488636 84488636 A G snp 643.77 0/1 99 54 27 27 0.5 exonic rs4483821 ADAMTSL3 AU nonsynonymous SNV NM_207517 exon6 c.A437G p.H146R 0.679313 0.8085 0.562510 0.5401 0.8070 0.53 T 0.0 P -1.030 T 0.0 T 0.002 T Pathogenic 15_84506757_C->A 15 84506757 84506757 C A snp 157.77 0/1 63 7 2 5 0.71 intronic rs61387269 ADAMTSL3 AU NM_207517 exon7 c.182327-83C>A 0.13099 0.3462 Uncertain 15_84527364_A->G 15 84527364 84527364 A G snp 418.77 0/1 99 51 32 19 0.37 intronic rs113038464 ADAMTSL3 AU NM_207517 exon8 c.203004-153A>G 0.132788 0.3552 Uncertain 15_84539619_C->G 15 84539619 84539619 C G snp 2607.77 1/1 99 103 0 103 1.0 exonic rs4144691 ADAMTSL3 AU nonsynonymous SNV NM_207517 exon9 c.C868G p.L290V 0.807508 0.7232 0.848301 0.8061 0.7446 1 T 0.0 P -0.961 T 0.0 T 0.001 T Pathogenic 15_84554018_G->C 15 84554018 84554018 G C snp 1652.77 1/1 99 50 0 50 1.0 intronic rs8028931 ADAMTSL3 AU NM_207517 exon10 c.229451+54G>C 0.804912 0.7192 Uncertain 15_84566444_T->C 15 84566444 84566444 T C snp 683.77 1/1 51 18 0 18 1.0 intronic rs7162129 ADAMTSL3 AU NM_207517 exon14 c.242096-165T>C 0.687101 0.7202 Uncertain 15_84566544_C->T 15 84566544 84566544 C T snp 2064.77 0/1 99 149 69 80 0.54 intronic rs11259927 ADAMTSL3 AU NM_207517 exon14 c.242096-65C>T 0.338259 0.3284 Uncertain 15_84568504_A->G 15 84568504 84568504 A G snp 5312.77 1/1 99 206 0 206 1.0 intronic rs6603004 ADAMTSL3 AU NM_207517 exon15 c.243970+21A>G 0.686901 0.7202 0.618425 0.6128 0.7506 Uncertain 15_84581889_G->A 15 84581889 84581889 G A snp 848.77 0/1 99 85 46 39 0.46 exonic rs12439867 ADAMTSL3 AU synonymous SNV NM_207517 exon16 c.G1746A p.P582P 0.386382 0.3294 0.288328 0.3019 0.3628 Uncertain 15_84581904_T->C 15 84581904 84581904 T C snp 2720.77 1/1 99 101 0 101 1.0 exonic rs4842923 ADAMTSL3 AU synonymous SNV NM_207517 exon16 c.T1761C p.R587R 0.686102 0.7202 0.618253 0.5991 0.7431 Uncertain 15_84582124_G->T 15 84582124 84582124 G T snp 3350.77 1/1 99 118 0 118 1.0 exonic rs4842838 ADAMTSL3 AU nonsynonymous SNV NM_207517 exon16 c.G1981T p.V661L 0.685703 0.7202 0.618176 0.5990 0.7408 0.72 T 0.0 P -0.971 T 0.0 T 0.0 T Pathogenic 15_84639350_C->T 15 84639350 84639350 C T snp 2303.77 0/1 99 188 94 94 0.5 exonic rs2277849 ADAMTSL3 AU nonsynonymous SNV NM_207517 exon20 c.C2605T p.L869F 0.260383 0.3442 0.292634 0.2460 0.3277 0.06 T 0.0 P -1.037 T 0.794 T 0.5 P Pathogenic 15_84651185_C->A 15 84651185 84651185 C A snp 1494.77 0/1 99 103 47 56 0.54 exonic rs8031704 ADAMTSL3 AU synonymous SNV NM_207517 exon21 c.C2805A p.P935P 0.375998 0.38 0.409888 0.3355 0.3670 Uncertain 15_84651290_T->C 15 84651290 84651290 T C snp 5167.77 1/1 99 171 0 171 1.0 exonic rs7176737 ADAMTSL3 AU synonymous SNV NM_207517 exon21 c.T2910C p.H970H 0.869209 0.9544 0.834000 0.8144 0.9388 Uncertain 15_84700375_T->C 15 84700375 84700375 T C snp 41.77 0/1 70 4 2 2 0.5 intronic rs141690737 ADAMTSL3 AU NM_207517 exon28 c.375671+191T>C 0.00638978 0.0308 Uncertain 15_84705426_G->A 15 84705426 84705426 G A snp 541.77 0/1 99 47 25 22 0.47 intronic rs2279926 ADAMTSL3 AU NM_207517 exon29 c.381011-98G>A 0.341853 0.3839 Uncertain 15_84722797_T->G 15 84722797 84722797 T G snp 839.77 0/1 99 47 21 26 0.55 intergenic rs116443262 ADAMTSL3 AU 0.228834 0.3442 Uncertain 15_84722798_T->C 15 84722798 84722798 T C snp 815.77 0/1 99 47 21 26 0.55 intergenic rs4559876 ADAMTSL3 AU 0.228834 0.3442 Uncertain 15_84748914_G->C 15 84748914 84748914 G C snp 2348.77 0/1 99 190 90 100 0.53 upstream rs17841161 EFTUD1P1 AU 0.0579073 0.1766 Uncertain 15_84749821_TTA->- 15 84749821 84749823 TTA - indel 993.73 0/1 99 35 14 21 0.6 ncRNA_intronic rs139071720 EFTUD1P1 AU 0.578275 0.7143 Uncertain 15_84753177_A->G 15 84753177 84753177 A G snp 844.77 1/1 63 33 0 33 1.0 ncRNA_intronic rs12437525 EFTUD1P1 AU 0.899161 0.9563 Uncertain 15_84758840_A->G 15 84758840 84758840 A G snp 41.74 1/1 6 2 0 2 1.0 ncRNA_intronic rs1567086 EFTUD1P1 AU 0.426318 0.2847 Uncertain 15_84759163_G->A 15 84759163 84759163 G A snp 604.77 0/1 99 46 25 21 0.46 ncRNA_intronic rs370754504 EFTUD1P1 AU 0.000599042 0.003 Uncertain 15_84784964_C->T 15 84784964 84784964 C T snp 95.77 0/1 99 18 8 10 0.56 ncRNA_intronic rs11637158 EFTUD1P1 AU 0.348442 0.2728 Uncertain 15_84950209_T->C 15 84950209 84950209 T C snp 386.77 0/1 69 24 7 17 0.71 intergenic rs10152249 GOLGA6L4 AU 0.866014 0.9534 Uncertain 15_85149771_G->T 15 85149771 85149771 G T snp 5371.77 1/1 99 201 0 201 1.0 exonic rs2271433 ZSCAN2 AU nonsynonymous SNV NM_017894 exon3 c.G418T p.V140F 0.905152 0.9494 0.896416 0.8733 0.9421 0.11 T 0.000 P -1.084 T 0.0 T 0.0 T Pathogenic 15_85159397_C->G 15 85159397 85159397 C G snp 866.77 1/1 63 26 0 26 1.0 intronic rs10083683 ZSCAN2 AU NM_001007072 exon3 c.12381-142C>G 0.864217 0.9415 Uncertain 15_85163998_G->C 15 85163998 85163998 G C snp 4509.77 1/1 99 152 0 152 1.0 exonic rs2044502 ZSCAN2 AU nonsynonymous SNV NM_181877 exon3 c.G572C p.S191T 0.88119 0.9484 0.868041 0.8486 0.9435 0.0 P -1.050 T 0.0 T 0.0 T Pathogenic 15_85175102_G->A 15 85175102 85175102 G A snp 3847.77 1/1 99 151 0 151 1.0 ncRNA_exonic rs2121452 SCAND2P AU 0.895567 0.9494 0.865907 0.8517 0.9352 Uncertain 15_85186637_G->C 15 85186637 85186637 G C snp 82.77 0/1 28 5 1 4 0.8 UTR3 rs510875 WDR73 AR 0.654153 0.5734 Uncertain 15_85188994_T->C 15 85188994 85188994 T C snp 6956.77 1/1 99 249 0 249 1.0 exonic rs2271432 WDR73 AR synonymous SNV NM_032856 exon7 c.A591G p.S197S 0.895367 0.9494 0.878832 0.8550 0.9453 Uncertain 15_85191274_C->G 15 85191274 85191274 C G snp 2149.77 1/1 99 82 0 82 1.0 intronic rs7169629 WDR73 AR NM_032856 exon4 c.4485+89C>G 0.580072 0.8026 Uncertain 15_85197253_T->C 15 85197253 85197253 T C snp 500.77 1/1 39 14 0 14 1.0 intronic rs4842978 WDR73 AR NM_032856 exon8 c.10764-211T>C 0.726038 0.8115 Uncertain 15_85197561_G->A 15 85197561 85197561 G A snp 2138.77 0/1 99 205 108 97 0.47 UTR5 rs141201919 WDR73 AR 0.0105831 0.0486 Uncertain 15_85198362_G->T 15 85198362 85198362 G T snp 1058.77 1/1 78 35 0 35 1.0 UTR3 rs1107179 NMB AU 0.726637 0.8115 Uncertain 15_85200754_G->T 15 85200754 85200754 G T snp 684.77 1/1 54 20 1 19 0.95 intronic rs2292462 NMB AU NM_021077 exon2 c.1975+175G>T 0.673722 0.8056 Uncertain 15_85231144_G->C 15 85231144 85231144 G C snp 83.77 0/1 69 5 2 3 0.6 intronic rs16974494 SEC11A AU NM_001271922 exon3 c.17832+139G>C 0.278355 0.4395 Uncertain 15_85235757_C->T 15 85235757 85235757 C T snp 943.77 1/1 69 30 0 30 1.0 intronic rs12900890 SEC11A AU NM_001271922 exon4 c.21702+882C>T 0.864018 0.9484 Uncertain 15_85259053_C->A 15 85259053 85259053 C A snp 1253.77 1/1 90 45 0 45 1.0 intronic rs6496355 SEC11A AU NM_001271922 exon5 c.46082-202C>A 0.999401 1 Uncertain 15_85333953_A->G 15 85333953 85333953 A G snp 4954.77 1/1 99 193 0 193 1.0 exonic rs2241645 ZNF592 AU synonymous SNV NM_014630 exon5 c.A2238G p.Q746Q 0.783946 0.9435 0.752768 0.7501 0.9321 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000118955.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 15_85341859_G->A 15 85341859 85341859 G A snp 6849.77 1/1 99 249 0 249 1.0 exonic rs8182086 ZNF592 AU nonsynonymous SNV NM_014630 exon8 c.G2777A p.S926N 0.378395 0.4782 0.256306 0.2926 0.4706 0.55 T 0.152 P -0.973 T 0.208 T 0.038 T CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000118956.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 15_85360004_A->C 15 85360004 85360004 A C snp 272.8 1/1 21 10 0 10 1.0 UTR5 rs55736017 ALPK3 AU 0.378195 0.4851 Uncertain 15_85360101_T->C 15 85360101 85360101 T C snp 2000.77 1/1 99 63 0 63 1.0 exonic rs11857356 ALPK3 AU synonymous SNV NM_020778 exon1 c.T24C p.Y8Y 0.864816 0.9494 0.855638 0.8189 0.9408 Uncertain 15_85370597_C->G 15 85370597 85370597 C G snp 464.77 1/1 36 14 0 14 1.0 intronic rs891286 ALPK3 AU NM_020778 exon3 c.10637-117C>G 0.862819 0.9524 Uncertain 15_85382193_C->A 15 85382193 85382193 C A snp 997.77 1/1 72 34 0 34 1.0 intronic rs1896864 ALPK3 AU NM_020778 exon4 c.22133-17C>A 0.725839 0.9345 0.659182 0.6708 0.9112 Uncertain 15_85383839_G->A 15 85383839 85383839 G A snp 3807.77 1/1 99 131 0 131 1.0 exonic rs3803406 ALPK3 AU synonymous SNV NM_020778 exon5 c.G1935A p.G645G 0.74361 0.9355 0.675104 0.6789 0.9123 Uncertain 15_85401259_C->T 15 85401259 85401259 C T snp 2539.77 1/1 99 89 0 89 1.0 exonic rs306197 ALPK3 AU nonsynonymous SNV NM_020778 exon6 c.C3896T p.P1299L 0.804712 0.8591 0.789120 0.7644 0.8455 0.76 T 0.0 P -0.979 T 0.0 T 0.0 T Pathogenic 15_85401419_T->C 15 85401419 85401419 T C snp 3584.77 1/1 99 138 0 138 1.0 exonic rs167379 ALPK3 AU synonymous SNV NM_020778 exon6 c.T4056C p.G1352G 0.847843 0.9554 0.837717 0.8276 0.9483 Uncertain 15_85402431_G->A 15 85402431 85402431 G A snp 1166.77 1/1 90 34 0 34 1.0 intronic rs2289141 ALPK3 AU NM_020778 exon7 c.42396-42G>A 0.291933 0.3829 0.192402 0.2243 0.3565 Uncertain 15_85407564_A->C 15 85407564 85407564 A C snp 1185.77 1/1 87 36 0 36 1.0 intronic rs2289138 ALPK3 AU NM_020778 exon12 c.47595-108A>C 0.872404 0.9573 Uncertain 15_85411692_C->T 15 85411692 85411692 C T snp 771.77 1/1 57 24 0 24 1.0 UTR3 rs3748380 ALPK3 AU 0.394968 0.5823 0.249731 0.3075 0.5470 Uncertain 15_85438311_-->TTG 15 85438311 85438311 - TTG indel 1459.73 0/1 99 53 26 27 0.51 exonic rs151038463 SLC28A1 AU nonframeshift insertion NM_004213 exon6 c.418_419insTTG p.L140delinsLV 0.258387 0.1925 0.301726 0.2802 0.1993 ID=COSM308704,COSM308705;OCCURENCE=1(lung),1(large_intestine) Uncertain 15_85438397_A->C 15 85438397 85438397 A C snp 256.77 0/1 99 16 7 9 0.56 intronic rs8187753 SLC28A1 AU NM_004213 exon6 c.7363+43A>C 0.451677 0.6815 0.305839 0.4490 0.6755 Uncertain 15_85447431_G->A 15 85447431 85447431 G A snp 2313.77 0/1 99 177 78 99 0.56 exonic rs2290272 SLC28A1 AU nonsynonymous SNV NM_004213 exon7 c.G565A p.V189I 0.383187 0.375 0.305675 0.3912 0.4022 1 T 0.0 P -1.039 T 0.035 T 0.024 T ID=CM045806;DIS=Reduced affinity for gemcitabine;TAG=FP;PUB=14978229 FP Pathogenic 15_85447635_A->C 15 85447635 85447635 A C snp 146.77 0/1 99 8 3 5 0.63 intronic rs2290271 SLC28A1 AU NM_004213 exon7 c.16478+166A>C 0.438299 0.375 Uncertain 15_85448684_G->C 15 85448684 85448684 G C snp 354.77 0/1 99 29 16 13 0.45 intronic rs2290270 SLC28A1 AU NM_004213 exon8 c.17778-85G>C 0.539337 0.4385 Uncertain 15_85448875_C->A 15 85448875 85448875 C A snp 923.77 0/1 99 90 46 44 0.49 exonic rs8187758 SLC28A1 AU nonsynonymous SNV NM_004213 exon8 c.C709A p.Q237K 0.300519 0.3075 0.205937 0.2738 0.3232 0.39 T 1.000 P -0.895 T 0.999 D 0.999 D Pathogenic 15_85448906_C->T 15 85448906 85448906 C T snp 539.77 0/1 99 63 34 29 0.46 intronic rs2290269 SLC28A1 AU NM_004213 exon8 c.17892+23C>T 0.347244 0.4206 0.385958 0.3897 0.4096 Uncertain 15_85448992_G->T 15 85448992 85448992 G T snp 307.77 0/1 82 12 3 9 0.75 intronic rs67047009 SLC28A1 AU NM_004213 exon8 c.17892+109G>T 0.361422 0.3075 Uncertain 15_85451852_T->C 15 85451852 85451852 T C snp 350.77 0/1 99 51 31 20 0.39 intronic rs4980349 SLC28A1 AU NM_004213 exon9 c.20957-96T>C 0.35603 0.3095 Uncertain 15_85461898_G->C 15 85461898 85461898 G C snp 2345.77 1/1 99 88 0 88 1.0 intronic rs1562885 SLC28A1 AU NM_004213 exon10 c.30844+63G>C 0.64397 0.875 Uncertain 15_85461971_G->A 15 85461971 85461971 G A snp 260.77 0/1 99 20 9 11 0.55 intronic rs1562884 SLC28A1 AU NM_004213 exon10 c.30844+136G>A 0.360224 0.3343 Uncertain 15_85467207_T->C 15 85467207 85467207 T C snp 1828.77 0/1 99 156 80 76 0.49 intronic rs3825875 SLC28A1 AU NM_004213 exon12 c.36224-8T>C 0.405351 0.3075 0.388880 0.3932 0.3162 Uncertain 15_85467275_C->T 15 85467275 85467275 C T snp 2563.77 0/1 99 240 128 112 0.47 exonic rs3803390 SLC28A1 AU synonymous SNV NM_004213 exon12 c.C1017T p.H339H 0.168331 0.5119 0.031375 0.0955 0.4820 Uncertain 15_85469711_G->A 15 85469711 85469711 G A snp 330.77 0/1 99 28 14 14 0.5 intronic rs2343674 SLC28A1 AU NM_004213 exon12 c.36350+2370G>A 0.573882 0.6319 Uncertain 15_85476223_TAT->- 15 85476223 85476225 TAT - indel 1397.73 1/1 81 27 0 27 1.0 intronic rs3217613 SLC28A1 AU NM_004213 exon13 c.45384-152_45384-150delTAT 0.559904 0.8909 Uncertain 15_85476441_G->A 15 85476441 85476441 G A snp 6426.77 1/1 99 241 1 240 1.0 exonic rs2305367 SLC28A1 AU synonymous SNV NM_004213 exon13 c.G1149A p.K383K 0.568291 0.8958 0.382267 0.4668 0.8841 Uncertain 15_85478153_G->T 15 85478153 85478153 G T snp 1470.77 1/1 99 47 1 46 0.98 intronic rs7163966 SLC28A1 AU NM_004213 exon14 c.47265-103G>T 0.930511 0.9583 Uncertain 15_85478410_A->G 15 85478410 85478410 A G snp 5350.77 1/1 99 184 0 184 1.0 exonic rs2242048 SLC28A1 AU synonymous SNV NM_004213 exon14 c.A1368G p.Q456Q 0.930711 0.9583 0.898877 0.8876 0.9596 Uncertain 15_85487961_C->- 15 85487961 85487961 C - indel 9619.73 1/1 99 250 0 250 1.0 intronic rs11479919 SLC28A1 AU NM_004213 exon18 c.56995-25delC 1 1 1 1 Uncertain 15_85488128_G->A 15 85488128 85488128 G A snp 1704.77 0/1 99 115 47 68 0.59 intronic rs2305366 SLC28A1 AU NM_004213 exon18 c.57107+30G>A 0.297125 0.3115 0.235543 0.2631 0.3091 Uncertain 15_85488572_T->G 15 85488572 85488572 T G snp 1447.77 1/1 99 44 0 44 1.0 UTR3 rs8025045 SLC28A1 AU 0.907748 0.9583 Uncertain 15_85607563_G->A 15 85607563 85607563 G A snp 6390.77 1/1 99 228 0 228 1.0 intronic rs11073916 PDE8A AU NM_002605 exon2 c.82207-37G>A 0.225639 0.3671 0.136189 0.1680 0.3462 Uncertain 15_85607670_G->T 15 85607670 85607670 G T snp 6756.77 1/1 99 246 0 246 1.0 intronic rs11073917 PDE8A AU NM_002605 exon2 c.82264+13G>T 0.217452 0.3671 0.129806 0.1647 0.3418 Uncertain 15_85610125_A->G 15 85610125 85610125 A G snp 99.28 1/1 9 3 0 3 1.0 intronic rs62019480 PDE8A AU NM_002605 exon3 c.84851-119A>G 0.45607 0.4246 Uncertain 15_85652479_C->G 15 85652479 85652479 C G snp 1014.77 1/1 75 30 0 30 1.0 intronic rs2304419 PDE8A AU NM_002605 exon12 c.126968+118C>G 0.193291 0.3909 Uncertain 15_85652486_G->C 15 85652486 85652486 G C snp 676.77 1/1 51 18 0 18 1.0 intronic rs2304420 PDE8A AU NM_002605 exon12 c.126968+125G>C 0.237021 0.3909 Uncertain 15_85656568_A->G 15 85656568 85656568 A G snp 1764.77 1/1 99 58 0 58 1.0 intronic rs2304422 PDE8A AU NM_002605 exon13 c.131214-39A>G 0.544529 0.4375 0.565595 0.4836 0.4203 Uncertain 15_85659151_A->- 15 85659151 85659151 A - indel 915.73 1/1 51 55 5 50 0.91 intronic rs35865189 PDE8A AU NM_002605 exon16 c.133821-63delA 0.299521 0.4544 Uncertain 15_85659479_A->G 15 85659479 85659479 A G snp 93.28 1/1 9 3 0 3 1.0 intronic rs11073951 PDE8A AU NM_002605 exon16 c.133957+129A>G 0.540735 0.4405 Uncertain 15_85679984_G->A 15 85679984 85679984 G A snp 843.77 1/1 63 28 0 28 1.0 intronic rs11073962 PDE8A AU NM_002605 exon21 c.154501+90G>A 0.238019 0.3581 Uncertain 15_85680021_G->A 15 85680021 85680021 G A snp 547.77 1/1 42 17 0 17 1.0 intronic rs12592211 PDE8A AU NM_002605 exon21 c.154501+127G>A 0.163339 0.3552 Uncertain 15_86028822_A->G 15 86028822 86028822 A G snp 476.77 1/1 36 13 0 13 1.0 intronic rs4632086 AKAP13 AU 0.184305 0.2887 Uncertain 15_86064609_C->T 15 86064609 86064609 C T snp 401.77 0/1 99 29 15 14 0.48 intronic rs367675924 AKAP13 AU NM_006738 exon3 c.35707-49C>T 9.984e-05 0.0010 Uncertain 15_86077189_A->G 15 86077189 86077189 A G snp 811.77 1/1 60 29 0 29 1.0 intronic rs2279168 AKAP13 AU NM_006738 exon4 c.48160+78A>G 0.192692 0.3026 0.1942 0.4031 Uncertain 15_86087212_C->T 15 86087212 86087212 C T snp 5476.77 1/1 99 202 0 202 1.0 intronic rs7162720 AKAP13 AU NM_006738 exon5 c.58235+26C>T 0.902955 0.7708 0.947470 0.9176 0.7924 Uncertain 15_86098507_G->T 15 86098507 86098507 G T snp 534.77 1/1 42 19 0 19 1.0 intronic rs7180143 AKAP13 AU NM_006738 exon5 c.58235+11321G>T 0.619808 0.621 Uncertain 15_86098647_T->C 15 86098647 86098647 T C snp 3970.77 1/1 99 151 0 151 1.0 intronic rs7164821 AKAP13 AU NM_006738 exon5 c.58235+11461T>C 0.634585 0.621 0.6347 0.5758 Uncertain 15_86122654_T->C 15 86122654 86122654 T C snp 2489.77 1/1 99 85 0 85 1.0 exonic rs2061821 AKAP13 AU nonsynonymous SNV NM_007200 exon7 c.T1355C p.M452T 0.583067 0.5784 0.627134 0.6107 0.5786 1 T 0.000 P -0.909 T 0.003 T 0.001 T Pathogenic 15_86122779_T->C 15 86122779 86122779 T C snp 1525.77 1/1 99 54 0 54 1.0 exonic rs2061822 AKAP13 AU nonsynonymous SNV NM_007200 exon7 c.T1480C p.W494R 0.596246 0.5794 0.649054 0.6322 0.5788 0.68 T 0.000 P -1.033 T 0.0 T 0.0 T Pathogenic 15_86122916_T->C 15 86122916 86122916 T C snp 4385.77 1/1 99 163 0 163 1.0 exonic rs2061823 AKAP13 AU synonymous SNV NM_007200 exon7 c.T1617C p.A539A 0.583267 0.5794 0.626442 0.6105 0.5786 Uncertain 15_86123019_C->T 15 86123019 86123019 C T snp 4782.77 1/1 99 178 0 178 1.0 exonic rs2061824 AKAP13 AU nonsynonymous SNV NM_007200 exon7 c.C1720T p.R574C 0.583067 0.5784 0.626750 0.6107 0.5784 0.36 T 0.0 P -0.945 T 0.0 T 0.0 T Pathogenic 15_86123462_T->C 15 86123462 86123462 T C snp 4977.77 1/1 99 168 0 168 1.0 exonic rs745192 AKAP13 AU synonymous SNV NM_007200 exon7 c.T2163C p.P721P 0.198283 0.3403 0.119597 0.1141 0.3546 Uncertain 15_86123833_T->C 15 86123833 86123833 T C snp 2205.77 1/1 99 77 0 77 1.0 exonic rs4075256 AKAP13 AU nonsynonymous SNV NM_007200 exon7 c.T2534C p.V845A 0.582069 0.5784 0.625827 0.6072 0.5791 0.8 T 0.000 P -0.997 T 0.0 T 0.001 T Pathogenic 15_86123924_C->T 15 86123924 86123924 C T snp 2629.77 1/1 99 89 0 89 1.0 exonic rs4075255 AKAP13 AU synonymous SNV NM_007200 exon7 c.C2625T p.P875P 0.582268 0.5784 0.626211 0.6106 0.5789 Uncertain 15_86123988_G->A 15 86123988 86123988 G A snp 3369.77 1/1 99 125 0 125 1.0 exonic rs4075254 AKAP13 AU nonsynonymous SNV NM_007200 exon7 c.G2689A p.V897M 0.582069 0.5784 0.626442 0.6105 0.5777 0.04 T 0.000 P -0.997 T 0.033 T 0.02 T Pathogenic 15_86124419_C->T 15 86124419 86124419 C T snp 3152.77 1/1 99 104 0 104 1.0 exonic rs4843073 AKAP13 AU synonymous SNV NM_007200 exon7 c.C3120T p.S1040S 0.58147 0.5784 0.626288 0.6103 0.5784 Uncertain 15_86124483_C->G 15 86124483 86124483 C G snp 3812.77 1/1 99 128 0 128 1.0 exonic rs4843074 AKAP13 AU nonsynonymous SNV NM_007200 exon7 c.C3184G p.P1062A 0.581869 0.5784 0.625904 0.6103 0.5787 0.26 T 0.009 P -0.995 T 0.356 T 0.164 T Pathogenic 15_86124555_G->A 15 86124555 86124555 G A snp 4342.77 1/1 99 153 0 153 1.0 exonic rs4843075 AKAP13 AU nonsynonymous SNV NM_007200 exon7 c.G3256A p.D1086N 0.58127 0.5784 0.626365 0.6102 0.5780 1 T 0.0 P -0.976 T 0.0 T 0.0 T Pathogenic 15_86124946_T->C 15 86124946 86124946 T C snp 6836.77 1/1 99 249 0 249 1.0 exonic rs7162168 AKAP13 AU nonsynonymous SNV NM_007200 exon7 c.T3647C p.M1216T 0.582668 0.5813 0.626980 0.6095 0.5775 0.58 T 0.0 P -0.951 T 0.0 T 0.0 T Pathogenic 15_86124968_G->A 15 86124968 86124968 G A snp 6601.77 1/1 99 250 1 249 1.0 exonic rs11633087 AKAP13 AU synonymous SNV NM_007200 exon7 c.G3669A p.R1223R 0.575679 0.5774 0.619520 0.6056 0.5749 Uncertain 15_86125031_G->A 15 86125031 86125031 G A snp 5649.77 1/1 99 196 0 196 1.0 exonic rs7178065 AKAP13 AU synonymous SNV NM_007200 exon7 c.G3732A p.G1244G 0.576677 0.5774 0.625288 0.6067 0.5730 Uncertain 15_86129201_T->A 15 86129201 86129201 T A snp 1056.77 1/1 78 29 0 29 1.0 intronic rs931082 AKAP13 AU NM_006738 exon8 c.100103+147T>A 0.586861 0.5804 Uncertain 15_86182856_-->T 15 86182856 86182856 - T indel 543.73 1/1 39 13 0 13 1.0 intronic rs35727345 AKAP13 AU NM_006738 exon9 c.153729+176insT 0.611222 0.5794 Uncertain 15_86205478_G->A 15 86205478 86205478 G A snp 3496.77 1/1 99 112 0 112 1.0 intronic rs189264 AKAP13 AU NM_006738 exon12 c.176667-140G>A 0.21865 0.3373 Uncertain 15_86205523_C->G 15 86205523 86205523 C G snp 6127.77 1/1 99 223 0 223 1.0 intronic rs170931 AKAP13 AU NM_006738 exon12 c.176667-95C>G 0.21885 0.3383 Uncertain 15_86213172_A->G 15 86213172 86213172 A G snp 224.84 1/1 18 6 0 6 1.0 intronic rs338523 AKAP13 AU NM_006738 exon14 c.184110+111A>G 0.596046 0.5754 Uncertain 15_86262573_A->G 15 86262573 86262573 A G snp 900.77 0/1 99 74 38 36 0.49 intronic rs377115947 AKAP13 AU NM_006738 exon23 c.233606+16A>G 0.0001 0.0016 Uncertain 15_86278174_C->T 15 86278174 86278174 C T snp 951.77 1/1 69 30 0 30 1.0 intronic rs2241267 AKAP13 AU NM_006738 exon31 c.249271-48C>T 0.923323 0.9772 0.914244 0.9291 0.9907 Uncertain 15_86286675_G->A 15 86286675 86286675 G A snp 1917.77 1/1 99 71 0 71 1.0 intronic rs1549038 AKAP13 AU NM_006738 exon36 c.257771-47G>A 0.183307 0.2857 0.129826 0.1257 0.3069 Uncertain 15_86287867_G->A 15 86287867 86287867 G A snp 2329.77 1/1 99 88 0 88 1.0 exonic rs2614668 AKAP13 AU nonsynonymous SNV NM_007200 exon37 c.G8401A p.A2801T 0.188498 0.3085 0.131057 0.1294 0.3176 0.23 T 0.0 P -0.970 T 0.007 T 0.004 T Pathogenic 15_86313048_T->C 15 86313048 86313048 T C snp 3712.77 1/1 99 125 0 125 1.0 UTR5 rs2614657 KLHL25 AU 0.799521 0.7698 0.816664 0.8282 0.7927 Uncertain 15_86313200_T->C 15 86313200 86313200 T C snp 210.84 1/1 18 6 0 6 1.0 intronic rs2542598 KLHL25 AU NM_022480 exon2 c.1780+149T>C 0.98103 1 Uncertain 15_86368835_A->G 15 86368835 86368835 A G snp 149.03 1/1 12 7 0 7 1.0 intergenic rs4627292 KLHL25 AU 0.748003 0.631 1 . Uncertain 15_86368898_G->A 15 86368898 86368898 G A snp 277.8 1/1 21 11 0 11 1.0 intergenic rs4414449 KLHL25 AU 0.748203 0.631 0.7778 . Uncertain 15_86368959_A->T 15 86368959 86368959 A T snp 195.9 1/1 15 10 0 10 1.0 intergenic rs4577031 KLHL25 AU 0.748003 0.631 0.75 . Uncertain 15_86687050_G->A 15 86687050 86687050 G A snp 1376.77 0/1 99 119 57 62 0.52 exonic rs80332650 AGBL1 AD nonsynonymous SNV NM_152336 exon2 c.G98A p.R33Q 0.00139776 0.006 0.000081 0.0011 0.0146 0.08 T 1 D -0.933 T 1.0 D 0.949 D Pathogenic 15_86697596_G->C 15 86697596 86697596 G C snp 1289.77 0/1 99 101 46 55 0.54 intronic rs7161846 AGBL1 AD NM_152336 exon3 c.10708-64G>C 0.514177 0.4901 Uncertain 15_86800209_C->T 15 86800209 86800209 C T snp 1185.77 0/1 99 91 45 46 0.51 exonic rs1353578 AGBL1 AD synonymous SNV NM_152336 exon7 c.C723T p.P241P 0.539736 0.2163 0.645368 0.5547 0.1993 Uncertain 15_86801461_G->A 15 86801461 86801461 G A snp 121.77 0/1 97 8 3 5 0.63 intronic rs140755143 AGBL1 AD NM_152336 exon8 c.114310+199G>A 0.00219649 0.0109 Uncertain 15_86806029_C->T 15 86806029 86806029 C T snp 1725.77 0/1 99 157 84 73 0.46 exonic rs1566088 AGBL1 AD synonymous SNV NM_152336 exon9 c.C852T p.D284D 0.691817 0.5909 0.2317 Uncertain 15_86807761_A->G 15 86807761 86807761 A G snp 2110.77 0/1 99 209 118 91 0.44 exonic rs10520618 AGBL1 AD synonymous SNV NM_152336 exon10 c.A1221G p.E407E 0.505391 0.3522 0.474086 0.4403 0.3588 Uncertain 15_86809807_C->T 15 86809807 86809807 C T snp 34.77 0/1 63 11 8 3 0.27 intronic rs8041327 AGBL1 AD NM_152336 exon11 c.122736+119C>T 0.579673 0.2232 Uncertain 15_86814654_T->G 15 86814654 86814654 T G snp 289.77 0/1 99 21 12 9 0.43 intronic rs11852354 AGBL1 AD NM_152336 exon14 c.127897-195T>G 0.654153 0.3849 Uncertain 15_86814866_A->G 15 86814866 86814866 A G snp 1222.77 0/1 99 106 52 54 0.51 exonic rs11858435 AGBL1 AD synonymous SNV NM_152336 exon14 c.A1866G p.L622L 0.682109 0.3849 0.731923 0.6787 0.3843 Uncertain 15_86838497_C->T 15 86838497 86838497 C T snp 863.77 0/1 99 99 61 38 0.38 exonic rs9630451 AGBL1 AD synonymous SNV NM_152336 exon16 c.C2094T p.D698D 0.178514 0.1567 0.150890 0.0867 0.1696 Uncertain 15_86940622_T->C 15 86940622 86940622 T C snp 660.77 0/1 99 78 47 31 0.4 exonic rs4362360 AGBL1 AD synonymous SNV NM_152336 exon17 c.T2262C p.T754T 0.744209 0.88 0.607208 0.5826 0.8759 Uncertain 15_87097468_T->C 15 87097468 87097468 T C snp 685.77 1/1 51 18 0 18 1.0 intronic rs9788743 AGBL1 AD NM_152336 exon20 c.410639-123T>C 0.572085 0.7907 Uncertain 15_87099537_T->C 15 87099537 87099537 T C snp 3264.77 1/1 99 122 0 122 1.0 intronic rs752270 AGBL1 AD NM_152336 exon21 c.412564+21T>C 0.753195 0.8948 0.696231 0.6587 0.8949 Uncertain 15_87217613_A->G 15 87217613 87217613 A G snp 2753.77 1/1 99 103 0 103 1.0 exonic rs8028043 AGBL1 AD nonsynonymous SNV NM_152336 exon22 c.A3029G p.Q1010R 0.892173 0.9167 0.889700 0.9016 0.9115 0.57 T 0.0 P -1.059 T 0.0 T 0.0 T Pathogenic 15_87217721_C->G 15 87217721 87217721 C G snp 114.77 0/1 99 8 4 4 0.5 intronic rs11856329 AGBL1 AD NM_152336 exon22 c.530715+54C>G 0.437101 0.3403 Uncertain 15_87531281_A->C 15 87531281 87531281 A C snp 1052.77 0/1 99 117 67 50 0.43 exonic rs1006030 AGBL1 AD synonymous SNV NM_152336 exon23 c.A3147C p.T1049T 0.820687 0.9187 0.806037 0.8580 0.9097 Uncertain 15_88423463_C->T 15 88423463 88423463 C T snp 425.77 0/1 99 31 13 18 0.58 intronic rs1560975 NTRK3 AU NM_001243101 exon2 c.3335-37C>T 0.446885 0.6081 0.477692 0.5421 0.6026 Uncertain 15_88428702_C->A 15 88428702 88428702 C A snp 117.77 0/1 99 7 3 4 0.57 intronic rs2117655 NTRK3 AU NM_001012338 exon3 c.8759-222C>A 0.477037 0.629 Uncertain 15_88669382_G->C 15 88669382 88669382 G C snp 2364.77 1/1 99 78 0 78 1.0 intronic rs3825882 NTRK3 AU NM_001243101 exon7 c.249336-119G>C 0.54353 0.3502 Uncertain 15_88678680_T->C 15 88678680 88678680 T C snp 598.77 1/1 45 15 0 15 1.0 intronic rs2059588 NTRK3 AU NM_001243101 exon9 c.258463+52T>C 0.588059 0.5625 0.580066 0.5277 0.5468 Uncertain 15_88679785_G->A 15 88679785 88679785 G A snp 1714.77 1/1 99 61 0 61 1.0 exonic rs1863480 NTRK3 AU synonymous SNV NM_001012338 exon8 c.C678T p.N226N 0.998203 1 0.995846 0.9967 1 ID=COSM4128522;OCCURENCE=1(thyroid) Uncertain 15_88680684_G->A 15 88680684 88680684 G A snp 894.77 0/1 99 75 35 40 0.53 exonic rs1128994 NTRK3 AU synonymous SNV NM_001012338 exon7 c.C573T p.N191N 0.270767 0.2222 0.303154 0.2631 0.2232 Uncertain 15_88680943_G->T 15 88680943 88680943 G T snp 158.77 0/1 99 11 5 6 0.55 intronic rs7168040 NTRK3 AU NM_001243101 exon12 c.260627+151G>T 0.183107 0.2133 Uncertain 15_88680987_T->A 15 88680987 88680987 T A snp 56.74 1/1 6 2 0 2 1.0 intronic rs7174995 NTRK3 AU NM_001243101 exon12 c.260627+195T>A 0.498602 0.38 Uncertain 15_88690737_CTTCTTCTTCTTCTTCTTCTT->- 15 88690737 88690757 CTTCTTCTTCTTCTTCTTCTT - indel 8508.73 ./1 99 132 0 132 1.0 intronic rs202101442 NTRK3 AU NM_001243101 exon13 c.270469+103_270469+123delCTTCTTCTTCTTCTTCTTCTT 0.459864 0.373 Uncertain 15_88690737_CTT->- 15 88690737 88690739 CTT - indel 8508.73 ./1 99 132 0 132 1.0 intronic rs66493620 NTRK3 AU NM_001243101 exon13 c.270469+103_270469+105delCTT Uncertain 15_88727336_C->G 15 88727336 88727336 C G snp 326.77 0/1 99 22 12 10 0.45 intronic rs4887379 NTRK3 AU NM_001243101 exon15 c.307290-119C>G 0.265176 0.1528 Uncertain 15_89056040_C->A 15 89056040 89056040 C A snp 242.77 0/1 94 13 3 10 0.77 UTR3 rs13835 DET1 AU 0.263778 0.1359 Uncertain 15_89071124_-->AAC 15 89071124 89071124 - AAC indel 717.73 0/1 47 41 2 39 0.95 intronic rs3217481 DET1 AU NM_017996 exon3 c.14836+107insAAC 0.421126 0.6379 Uncertain 15_89079672_T->C 15 89079672 89079672 T C snp 54.74 1/1 6 2 0 2 1.0 intronic rs17197019 DET1 AU NM_017996 exon5 c.23431+60T>C 0.471645 0.6577 Uncertain 15_89151262_T->A 15 89151262 89151262 T A snp 358.77 0/1 99 20 7 13 0.65 upstream rs2350271 MIR1179 AU 0.160942 0.4008 Uncertain 15_89155014_C->T 15 89155014 89155014 C T snp 301.77 0/1 99 27 12 15 0.56 upstream;downstream rs41276928 MIR7-2;MIR3529 UN 0.183307 0.1022 0.271959 0.3197 0.1286 Uncertain 15_89169614_A->G 15 89169614 89169614 A G snp 1247.77 0/1 99 105 52 53 0.5 exonic rs3743476 AEN AU synonymous SNV NM_022767 exon2 c.A174G p.E58E 0.197883 0.1538 0.268355 0.2862 0.1599 Uncertain 15_89169858_A->G 15 89169858 89169858 A G snp 3160.77 0/1 99 250 128 122 0.49 exonic rs8027765 AEN AU nonsynonymous SNV NM_022767 exon2 c.A418G p.N140D 0.758387 0.754 0.813741 0.8602 0.7933 1 T 0.0 P -0.956 T 0.0 T 0.002 T Pathogenic 15_89172352_C->T 15 89172352 89172352 C T snp 267.77 0/1 99 28 19 9 0.32 intronic rs3826040 AEN AU NM_022767 exon3 c.3016-104C>T 0.742212 0.749 Uncertain 15_89172558_G->C 15 89172558 89172558 G C snp 1515.77 0/1 99 183 110 73 0.4 exonic rs3743475 AEN AU synonymous SNV NM_022767 exon3 c.G642C p.T214T 0.752396 0.753 0.805432 0.8529 0.7928 Uncertain 15_89173136_A->C 15 89173136 89173136 A C snp 350.77 0/1 99 28 15 13 0.46 intronic rs3826039 AEN AU NM_022767 exon4 c.3848-152A>C 0.54353 0.745 Uncertain 15_89173657_A->T 15 89173657 89173657 A T snp 197.77 0/1 99 14 6 8 0.57 UTR3 rs3826038 AEN AU 0.749601 0.753 0.8408 0.7398 Uncertain 15_89182596_A->G 15 89182596 89182596 A G snp 1062.77 0/1 99 97 56 41 0.42 UTR5 rs3200942 ISG20 AU 0.352037 0.2034 0.448215 0.4631 0.2573 Uncertain 15_89193584_G->C 15 89193584 89193584 G C snp 1284.77 1/1 93 38 0 38 1.0 UTR5 rs8041679 ISG20 AU 0.754593 0.7331 Uncertain 15_89195178_G->C 15 89195178 89195178 G C snp 54.74 1/1 6 2 0 2 1.0 exonic rs6496516 ISG20 AU synonymous SNV NM_001303235 exon2 c.G33C p.V11V 0.785144 0.7341 Uncertain 15_89195264_A->G 15 89195264 89195264 A G snp 1005.77 0/1 99 79 44 35 0.44 exonic rs7180509 ISG20 AU nonsynonymous SNV NM_001303235 exon2 c.A119G p.D40G 0.111222 0.0397 0.01 T 0.0 P -0.985 T Pathogenic 15_89195526_A->G 15 89195526 89195526 A G snp 4014.77 1/1 99 126 0 126 1.0 exonic rs1137166 ISG20 AU synonymous SNV NM_001303235 exon2 c.A381G p.L127L 0.795327 0.7341 0.826127 0.8239 0.7499 Uncertain 15_89195592_C->G 15 89195592 89195592 C G snp 409.77 0/1 99 18 6 12 0.67 intronic rs112584899 ISG20 AU NM_001303233 exon3 c.12944+51C>G 0.0754792 0.0397 0.054928 0.1622 0.1867 Uncertain 15_89385151_T->G 15 89385151 89385151 T G snp 2342.77 1/1 99 72 0 72 1.0 intronic rs2293087 ACAN AU,AD NM_013227 exon5 c.5661+53T>G 0.444688 0.2897 Uncertain 15_89386544_G->- 15 89386544 89386544 G - indel 4352.73 1/1 99 121 1 120 0.99 intronic rs11324188 ACAN AU,AD NM_013227 exon6 c.7148-41delG 0.999915 0.9999 1 Uncertain 15_89390434_G->A 15 89390434 89390434 G A snp 468.77 1/1 36 17 0 17 1.0 intronic rs12911138 ACAN AU,AD NM_013227 exon8 c.11036-39G>A 0.420927 0.2192 0.627613 0.5350 0.2656 Uncertain 15_89391160_C->A 15 89391160 89391160 C A snp 3917.77 1/1 99 136 0 136 1.0 exonic rs2272023 ACAN AU,AD synonymous SNV NM_013227 exon9 c.C1623A p.P541P 0.694289 0.4802 0.796308 0.6958 0.4344 Uncertain 15_89392745_T->C 15 89392745 89392745 T C snp 3694.77 1/1 99 123 0 123 1.0 exonic rs1568116 ACAN AU,AD synonymous SNV NM_013227 exon10 c.T1809C p.A603A 0.995607 1 0.990101 0.9910 1 Uncertain 15_89398105_C->T 15 89398105 89398105 C T snp 3552.77 1/1 99 119 0 119 1.0 exonic rs2351491 ACAN AU,AD synonymous SNV NM_013227 exon12 c.C2289T p.P763P 0.35004 0.2083 0.524506 0.5574 0.2298 Uncertain 15_89398330_G->A 15 89398330 89398330 G A snp 7080.77 1/1 99 249 0 249 1.0 exonic rs3743399 ACAN AU,AD synonymous SNV NM_013227 exon12 c.G2514A p.S838S 0.758986 0.4911 0.867582 0.7644 0.4692 Uncertain 15_89398407_C->T 15 89398407 89398407 C T snp 6431.77 1/1 99 223 0 223 1.0 exonic rs3743398 ACAN AU,AD nonsynonymous SNV NM_013227 exon12 c.C2591T p.P864L 0.0816693 0.0952 0.147044 0.1549 0.1029 0.73 T 0.000 P -0.986 T 0.999 D 0.972 D Pathogenic 15_89398605_G->T 15 89398605 89398605 G T snp 4074.77 1/1 99 147 0 147 1.0 exonic rs938608 ACAN AU,AD nonsynonymous SNV NM_013227 exon12 c.G2789T p.S930I 0.452676 0.2421 0.596870 0.5430 0.2061 0.44 T 0.0 P -0.957 T 0.967 D 0.84 D Pathogenic 15_89398631_T->A 15 89398631 89398631 T A snp 3393.77 1/1 99 126 0 126 1.0 exonic rs938609 ACAN AU,AD nonsynonymous SNV NM_013227 exon12 c.T2815A p.S939T 0.392173 0.2073 0.566944 0.5172 0.1849 0.48 T 0.000 P -0.929 T 0.992 D 0.779 D Pathogenic 15_89400339_A->C 15 89400339 89400339 A C snp 2456.77 1/1 99 94 0 94 1.0 exonic rs2882676 ACAN AU,AD nonsynonymous SNV NM_013227 exon12 c.A4523C p.E1508A 0.424121 0.25 0.568951 0.5348 0.2132 0.35 T 0.0 P -0.995 T 0.58 P 0.304 P ID=CM071536;DIS=Alzheimer disease, late-onset, association with;TAG=DP;PUB=17317784 DP Pathogenic 15_89401109_A->G 15 89401109 89401109 A G snp 4682.77 1/1 99 167 1 166 0.99 exonic rs4932439 ACAN AU,AD nonsynonymous SNV NM_013227 exon12 c.A5293G p.I1765V 0.760383 0.494 0.867757 0.7596 0.4607 1 T 0.0 P -1.009 T 0.016 T 0.01 T Pathogenic 15_89401615_T->G 15 89401615 89401615 T G snp 4998.77 1/1 99 177 0 177 1.0 exonic rs3825994 ACAN AU,AD synonymous SNV NM_013227 exon12 c.T5799G p.T1933T 0.532548 0.5427 0.647845 0.6399 0.5151 Uncertain 15_89402051_A->G 15 89402051 89402051 A G snp 4075.77 1/1 99 138 0 138 1.0 exonic rs1042630 ACAN AU,AD nonsynonymous SNV NM_013227 exon12 c.A6235G p.I2079V 0.645966 0.5605 0.734966 0.6819 0.5384 0.54 T 0.0 P -0.962 T 0.023 T 0.026 T Pathogenic 15_89402239_T->C 15 89402239 89402239 T C snp 7193.77 1/1 99 250 0 250 1.0 exonic rs1042631 ACAN AU,AD synonymous SNV NM_013227 exon12 c.T6423C p.L2141L 0.736422 0.6111 0.814862 0.7405 0.5816 Uncertain 15_89402596_T->G 15 89402596 89402596 T G snp 6744.77 1/1 99 249 0 249 1.0 exonic rs698621 ACAN AU,AD synonymous SNV NM_013227 exon12 c.T6780G p.A2260A 0.451478 0.4663 0.547814 0.5885 0.5 Uncertain 15_89415231_C->A 15 89415231 89415231 C A snp 2732.77 0/1 99 250 133 117 0.47 splicing rs764447775 ACAN AU,AD NM_013227 exon15 c.35796-2C>A 4.969e-05 0.0007 Pathogenic 15_89415247_C->G 15 89415247 89415247 C G snp 7088.77 1/1 99 250 0 250 1.0 exonic rs3817428 ACAN AU,AD nonsynonymous SNV NM_013227 exon15 c.C7119G p.D2373E 0.114217 0.123 0.202055 0.2023 0.1214 0.37 T 0.041 P -0.883 T 0.505 P 0.206 P Pathogenic 15_89436085_C->T 15 89436085 89436085 C T snp 50.74 1/1 6 2 0 2 1.0 intronic rs884727 HAPLN3 AU NM_178232 exon5 c.17489-2604C>T 0.398163 0.4226 Uncertain 15_89436244_T->C 15 89436244 89436244 T C snp 2696.77 1/1 99 99 0 99 1.0 intronic rs8024779 HAPLN3 AU NM_178232 exon5 c.17489-2445T>C 0.571086 0.4841 0.5396 0.49 Uncertain 15_89436295_G->A 15 89436295 89436295 G A snp 3297.77 1/1 99 122 0 122 1.0 intronic rs8039131 HAPLN3 AU NM_178232 exon5 c.17489-2394G>A 0.397564 0.4216 0.3406 0.42 Uncertain 15_89436347_-->A 15 89436347 89436347 - A indel 840.73 0/1 99 92 42 50 0.54 intronic rs147237068 HAPLN3 AU NM_178232 exon5 c.17489-2342insA 0.0824681 0.1766 0.0670 0.1717 Uncertain 15_89436485_A->C 15 89436485 89436485 A C snp 56.74 1/1 6 2 0 2 1.0 intronic rs8024934 HAPLN3 AU NM_178232 exon5 c.17489-2204A>C 0.570487 0.4831 Uncertain 15_89443260_T->C 15 89443260 89443260 T C snp 54.74 1/1 6 2 0 2 1.0 intronic rs3784755 MFGE8 AU NM_005928 exon2 c.417+218T>C 0.0313498 0.123 Uncertain 15_89444760_T->C 15 89444760 89444760 T C snp 337.77 0/1 99 31 16 15 0.48 intronic rs2015495 MFGE8 AU NM_005928 exon3 c.2156-21T>C 0.514976 0.3383 0.560317 0.5292 0.3068 Uncertain 15_89448880_T->C 15 89448880 89448880 T C snp 487.77 0/1 99 33 16 17 0.52 intronic rs3743389 MFGE8 AU NM_005928 exon4 c.6362-107T>C 0.110623 0.1756 Uncertain 15_89449137_C->G 15 89449137 89449137 C G snp 2633.77 1/1 99 100 0 100 1.0 splicing rs3743388 MFGE8 AU NM_005928 exon4 c.6507+5C>G 0.442692 0.3938 0.421757 0.3615 0.3964 Pathogenic 15_89450003_G->A 15 89450003 89450003 G A snp 1030.77 1/1 75 32 0 32 1.0 exonic rs2271714 MFGE8 AU synonymous SNV NM_005928 exon4 c.C394T p.L132L 0.209065 0.2798 0.144176 0.1006 0.2964 Uncertain 15_89450312_T->C 15 89450312 89450312 T C snp 139.03 1/1 12 4 0 4 1.0 intronic rs1878328 MFGE8 AU NM_005928 exon6 c.7800-113T>C 0.615016 0.4266 Uncertain 15_89450546_C->T 15 89450546 89450546 C T snp 6548.77 1/1 99 245 0 245 1.0 exonic rs1878327 MFGE8 AU synonymous SNV NM_005928 exon3 c.G267A p.S89S 0.628994 0.4623 0.695030 0.6150 0.4437 Uncertain 15_89450587_G->T 15 89450587 89450587 G T snp 5622.77 1/1 99 211 1 210 1.0 exonic rs1878326 MFGE8 AU nonsynonymous SNV NM_005928 exon3 c.C226A p.L76M 0.638379 0.4554 0.697184 0.6218 0.4405 1 T 0.000 P -0.919 T 0.01 T 0.016 T ID=CM094608;DIS=Systemic lupus erythematosus, protection against, assoc;TAG=DP;PUB=19502262 DP Pathogenic 15_89734466_G->A 15 89734466 89734466 G A snp 1204.77 1/1 90 35 0 35 1.0 intronic rs2239287 ABHD2 AU NM_152924 exon9 c.74822+86G>A 0.422125 0.6399 Uncertain 15_89753802_G->A 15 89753802 89753802 G A snp 706.77 0/1 99 53 30 23 0.43 intronic rs191042242 RLBP1 AR,AD,AU NM_000326 exon2 c.414-127G>A 0.000199681 0.001 Uncertain 15_89758552_A->G 15 89758552 89758552 A G snp 996.77 1/1 75 30 0 30 1.0 intronic rs4932483 RLBP1 AR,AD,AU NM_000326 exon4 c.4954+83A>G 0.980431 1 Uncertain 15_89804043_C->T 15 89804043 89804043 C T snp 1548.77 0/1 99 148 72 76 0.51 exonic rs17803620 FANCI AU nonsynonymous SNV NM_001113378 exon4 c.C257T p.A86V 0.259784 0.3036 0.286275 0.3569 0.3145 0.77 T 1.0 P -0.962 T 0.746 T 0.062 P Pathogenic 15_89804111_G->A 15 89804111 89804111 G A snp 1138.77 0/1 99 99 51 48 0.48 intronic rs16942918 FANCI AU NM_018193 exon4 c.13196+37G>A 0.449281 0.3214 0.475612 0.4164 0.3347 Uncertain 15_89805189_-->TG 15 89805189 89805189 - TG indel 278.73 0/1 99 13 6 7 0.54 intronic rs3075797 FANCI AU NM_018193 exon6 c.14231+80insTG Uncertain 15_89806710_C->T 15 89806710 89806710 C T snp 1020.77 0/1 99 105 56 49 0.47 intronic rs1981623 FANCI AU NM_018193 exon7 c.15813+19C>T 0.338858 0.3095 0.348054 0.3820 0.3187 Uncertain 15_89806721_G->A 15 89806721 89806721 G A snp 990.77 0/1 99 105 54 51 0.49 intronic rs1981624 FANCI AU NM_018193 exon7 c.15813+30G>A 0.338259 0.3085 0.370672 0.3808 0.3166 Uncertain 15_89811482_T->C 15 89811482 89811482 T C snp 111.77 0/1 99 9 5 4 0.44 intronic rs7497351 FANCI AU NM_018193 exon10 c.20751-147T>C 0.447684 0.3224 Uncertain 15_89811543_G->C 15 89811543 89811543 G C snp 405.77 0/1 99 28 13 15 0.54 intronic rs7496308 FANCI AU NM_018193 exon10 c.20751-86G>C 0.452476 0.3224 Uncertain 15_89817689_G->C 15 89817689 89817689 G C snp 344.78 1/1 27 13 0 13 1.0 intronic rs11073853 FANCI AU NM_018193 exon12 c.26657+154G>C 0.99361 1 Uncertain 15_89826496_C->T 15 89826496 89826496 C T snp 2345.77 0/1 99 171 80 91 0.53 intronic rs9806604 FANCI AU NM_018193 exon17 c.35603+15C>T 0.439297 0.3214 0.467995 0.4173 0.3376 Uncertain 15_89836228_G->C 15 89836228 89836228 G C snp 346.77 0/1 99 48 30 18 0.38 exonic rs2283432 FANCI AU nonsynonymous SNV NM_001113378 exon22 c.G2225C p.C742S 0.264976 0.3135 0.289935 0.3623 0.3258 0.4 T 1.0 P -0.901 T 0.661 T 0.137 P Pathogenic 15_89838045_G->A 15 89838045 89838045 G A snp 286.77 0/1 99 18 7 11 0.61 intronic rs2283431 FANCI AU NM_001113378 exon24 c.47267-100G>A 0.285743 0.3135 Uncertain 15_89838236_G->A 15 89838236 89838236 G A snp 3280.77 1/1 99 127 1 126 0.99 exonic rs7183618 FANCI AU synonymous SNV NM_001113378 exon24 c.G2547A p.K849K 0.980831 1 0.960070 0.9593 1 Uncertain 15_89844688_A->C 15 89844688 89844688 A C snp 1232.77 0/1 99 127 70 57 0.45 intronic rs2159081 FANCI AU NM_018193 exon26 c.53795+15A>C 0.36262 0.3641 0.367210 0.3944 0.3781 Uncertain 15_89857698_T->G 15 89857698 89857698 T G snp 290.77 0/1 99 35 25 10 0.29 intronic rs16943011 FANCI AU NM_018193 exon35 c.66964-144T>G 0.371805 0.4177 Uncertain 15_89857711_-->TACAAG 15 89857711 89857711 - TACAAG indel 803.73 0/1 99 41 30 11 0.27 intronic rs55725136 FANCI AU NM_018193 exon35 c.66964-131insTACAAG 0.558506 0.4335 Uncertain 15_89858602_T->C 15 89858602 89858602 T C snp 1433.77 0/1 99 110 49 61 0.55 exonic rs1138465 FANCI AU synonymous SNV NM_001113378 exon37 c.T3906C p.G1302G 0.41234 0.4256 0.409601 0.4123 0.4291 Uncertain 15_89859932_-->C 15 89859932 89859932 - C indel 291.73 0/1 99 26 16 10 0.38 UTR3 rs3087377 FANCI AU 0.289337 0.3145 0.310304 0.3708 0.3224 Uncertain 15_89860786_A->C 15 89860786 89860786 A C snp 1233.77 0/1 99 111 54 57 0.51 intronic rs2307438 POLG AR,AD NM_001126131 exon2 c.786+19A>C 0.419928 0.3353 0.435452 0.4209 0.3544 CLINSIG=non-pathogenic;CLNDBN=not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000127543.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Uncertain 15_89862341_A->G 15 89862341 89862341 A G snp 2469.77 0/1 99 250 148 102 0.41 intronic rs2302084 POLG AR,AD NM_001126131 exon4 c.2349+11A>G 0.298123 0.3125 0.3747 0.3237 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_provided|not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter|criteria_provided\x2c_single_submitter;CLNACC=RCV000127531.1|RCV000153754.2;CLNDSDB=MedGen|MedGen;CLNDSDBID=CN221809|CN169374 Uncertain 15_89862366_T->C 15 89862366 89862366 T C snp 2522.77 0/1 99 250 147 103 0.41 intronic rs2246900 POLG AR,AD NM_001126131 exon4 c.2349+36T>C 0.291134 0.3155 0.312125 0.3719 0.3233 Uncertain 15_89863928_T->G 15 89863928 89863928 T G snp 153.77 0/1 99 9 4 5 0.56 intronic rs2307449 POLG AR,AD NM_001126131 exon6 c.4015-68T>G 0.448283 0.3264 Uncertain 15_89864316_-->CTAC 15 89864316 89864316 - CTAC indel 3875.73 0/1 99 153 86 67 0.44 intronic rs2307433 POLG AR,AD NM_001126131 exon7 c.4374-39insCTAC 0.558307 0.4315 0.575811 0.5007 0.4291 Uncertain 15_89866954_A->G 15 89866954 89866954 A G snp 85.77 0/1 69 6 2 4 0.67 intronic rs2072266 POLG AR,AD NM_001126131 exon12 c.7064-91A>G 0.296725 0.3125 Uncertain 15_89867154_A->G 15 89867154 89867154 A G snp 1235.77 0/1 99 112 57 55 0.49 intronic rs2072267 POLG AR,AD NM_001126131 exon12 c.7151+22A>G 0.547324 0.3849 0.576858 0.4991 0.3911 Uncertain 15_89869768_-->C 15 89869768 89869768 - C indel 248.73 0/1 99 21 12 9 0.43 intronic rs3176183 POLG AR,AD NM_001126131 exon15 c.9861-74insC 0.2502 0.2937 Uncertain 15_89871499_T->C 15 89871499 89871499 T C snp 786.77 0/1 99 45 17 28 0.62 intronic rs3176174 POLG AR,AD NM_001126131 exon18 c.11705-187T>C 0.559904 0.4127 Uncertain 15_89876236_C->A 15 89876236 89876236 C A snp 902.77 0/1 99 54 22 32 0.59 intronic rs2283430 POLG AR,AD NM_001126131 exon22 c.16345-90C>A 0.452875 0.3264 Uncertain 15_90023744_C->T 15 90023744 90023744 C T snp 80.78 0/1 24 4 1 3 0.75 intronic rs2289351 RHCG AU NM_016321 exon8 c.7674+105C>T 0.00179712 0.0079 Uncertain 15_90029830_-->GTGTGAGTGTGTGTGT 15 90029830 90029830 - GTGTGAGTGTGTGTGT indel 606.73 0/1 99 41 12 29 0.71 intronic RHCG AU NM_016321 exon10 c.14064-199insGTGTGAGTGTGTGTGT Uncertain 15_90128799_T->A 15 90128799 90128799 T A snp 189.77 0/1 99 14 7 7 0.5 intronic rs893724 TICRR AU NM_152259 exon4 c.10121-139T>A 0.850839 0.7312 Uncertain 15_90128910_T->C 15 90128910 90128910 T C snp 1899.77 0/1 99 154 80 74 0.48 intronic rs893723 TICRR AU NM_152259 exon4 c.10121-28T>C 0.272364 0.3948 0.255418 0.3530 0.3958 Uncertain 15_90129188_T->C 15 90129188 90129188 T C snp 607.77 0/1 99 54 30 24 0.44 intronic rs1540504 TICRR AU NM_152259 exon4 c.10356+15T>C 0.765775 0.7312 0.845730 0.8489 0.7066 Uncertain 15_90129227_A->C 15 90129227 90129227 A C snp 439.77 0/1 99 34 17 17 0.5 intronic rs1540503 TICRR AU NM_152259 exon4 c.10356+54A>C 0.766174 0.7321 Uncertain 15_90135196_A->G 15 90135196 90135196 A G snp 893.77 0/1 99 59 31 28 0.47 intronic rs8041127 TICRR AU NM_152259 exon5 c.16460-81A>G 0.766773 0.7331 Uncertain 15_90135432_A->G 15 90135432 90135432 A G snp 856.77 0/1 99 96 54 42 0.44 intronic rs34494298 TICRR AU NM_152259 exon5 c.16590+25A>G 0.766973 0.7331 0.846522 0.8494 0.7093 Uncertain 15_90138670_C->T 15 90138670 90138670 C T snp 675.77 0/1 99 56 26 30 0.54 exonic rs8042146 TICRR AU synonymous SNV NM_152259 exon7 c.C1728T p.C576C 0.762979 0.7292 0.844421 0.8479 0.7026 Uncertain 15_90144851_T->C 15 90144851 90144851 T C snp 1304.77 0/1 99 89 41 48 0.54 intronic rs4932233 TICRR AU NM_152259 exon11 c.25982+52T>C 0.777556 0.7262 0.856329 0.8531 0.7040 Uncertain 15_90144894_T->C 15 90144894 90144894 T C snp 1135.77 0/1 99 88 48 40 0.45 intronic rs4932234 TICRR AU NM_152259 exon12 c.26150-73T>C 0.765775 0.7262 Uncertain 15_90144944_G->A 15 90144944 90144944 G A snp 1796.77 0/1 99 143 75 68 0.48 intronic rs4244876 TICRR AU NM_152259 exon12 c.26150-23G>A 0.741813 0.7262 0.826478 0.8434 0.7038 Uncertain 15_90159575_T->C 15 90159575 90159575 T C snp 1152.77 0/1 99 130 78 52 0.4 intronic rs56036125 TICRR AU NM_152259 exon16 c.40818-60T>C 0.277556 0.3968 Uncertain 15_90161355_G->A 15 90161355 90161355 G A snp 2064.77 0/1 99 157 65 92 0.59 intronic rs2289486 TICRR AU NM_152259 exon17 c.42565-27G>A 0.855631 0.7321 0.928642 0.8738 0.7040 Uncertain 15_90168108_C->T 15 90168108 90168108 C T snp 1548.77 0/1 99 146 82 64 0.44 exonic rs894157 TICRR AU nonsynonymous SNV NM_152259 exon20 c.C4567T p.R1523C 0.850639 0.7153 0.924758 0.8677 0.6811 0.18 T 0.000 P -1.043 T 0.0 T 0.0 T Pathogenic 15_90168693_T->A 15 90168693 90168693 T A snp 1572.77 0/1 99 152 87 65 0.43 exonic rs1866928 TICRR AU nonsynonymous SNV NM_152259 exon20 c.T5152A p.S1718T 0.385982 0.3968 0.360748 0.3355 0.3560 0.13 T 0.0 P -0.919 T 0.025 T 0.002 T Pathogenic 15_90169261_A->G 15 90169261 90169261 A G snp 1495.77 0/1 99 182 117 65 0.36 exonic rs201249205 TICRR AU synonymous SNV NM_152259 exon21 c.A5571G p.K1857K 0.000399361 0.002 0.0006 0.0089 Uncertain 15_90169331_A->G 15 90169331 90169331 A G snp 2072.77 0/1 99 149 67 82 0.55 intronic rs55653159 TICRR AU NM_152259 exon21 c.50475+39A>G 0.269169 0.3919 0.251039 0.3015 0.3560 Uncertain 15_90170237_C->T 15 90170237 90170237 C T snp 1432.77 0/1 99 88 31 57 0.65 exonic rs3743372 TICRR AU nonsynonymous SNV NM_152259 exon22 c.C5653T p.R1885C 0.267372 0.3958 0.250269 0.3020 0.3558 0.03 T 1.000 P -0.904 T 0.998 D 0.804 D Pathogenic 15_90172600_G->A 15 90172600 90172600 G A snp 167.77 0/1 99 17 11 6 0.35 splicing rs74251725 KIF7 AR NM_198525 exon3 c.956-5G>A 0.27516 0.3958 0.258424 0.3199 0.3636 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000117423.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 15_90172834_T->G 15 90172834 90172834 T G snp 2075.77 0/1 99 184 94 90 0.49 intronic rs72750748 KIF7 AR NM_198525 exon3 c.1155+30T>G 0.267173 0.3958 0.249885 0.3031 0.3581 Uncertain 15_90176432_T->G 15 90176432 90176432 T G snp 1317.77 0/1 99 116 56 60 0.52 exonic rs3803531 KIF7 AR synonymous SNV NM_198525 exon13 c.A2658C p.A886A 0.794529 0.7312 0.870479 0.8618 0.7193 Uncertain 15_90177157_C->T 15 90177157 90177157 C T snp 1436.77 0/1 99 112 56 56 0.5 intronic rs894156 KIF7 AR NM_198525 exon8 c.5465+43C>T 0.275359 0.3948 0.257578 0.3109 0.3583 Uncertain 15_90188514_A->G 15 90188514 90188514 A G snp 1537.77 0/1 99 139 75 64 0.46 intronic rs894159 KIF7 AR NM_198525 exon11 c.16917-52A>G 0.988618 0.9911 Uncertain 15_90191827_T->C 15 90191827 90191827 T C snp 1212.77 0/1 99 118 68 50 0.42 exonic rs8037349 KIF7 AR nonsynonymous SNV NM_198525 exon5 c.A1102G p.T368A 0.861422 0.7629 0.923009 0.8912 0.8137 0.69 T 0.000 P -0.991 T 0.0 T 0.0 T Pathogenic 15_90192905_T->C 15 90192905 90192905 T C snp 961.77 0/1 99 65 31 34 0.52 intronic rs4932240 KIF7 AR NM_198525 exon17 c.21322-66T>C 0.782947 0.7411 Uncertain 15_90195765_A->G 15 90195765 90195765 A G snp 872.77 0/1 99 73 40 33 0.45 intronic rs11630003 KIF7 AR NM_198525 exon18 c.24184-68A>G 0.776957 0.7569 Uncertain 15_90195766_A->G 15 90195766 90195766 A G snp 872.77 0/1 99 73 40 33 0.45 intronic rs11630004 KIF7 AR NM_198525 exon18 c.24184-67A>G 0.814297 0.7579 Uncertain 15_90195967_C->G 15 90195967 90195967 C G snp 1415.77 0/1 99 153 94 59 0.39 exonic rs8179066 KIF7 AR synonymous SNV NM_198525 exon2 c.G195C p.A65A 0.860224 0.7569 0.925625 0.8937 0.7749 Uncertain 15_90196008_C->T 15 90196008 90196008 C T snp 1071.77 0/1 99 111 65 46 0.41 exonic rs8179065 KIF7 AR nonsynonymous SNV NM_198525 exon2 c.G154A p.D52N 0.242412 0.4117 0.2697 0.4510 0.03 T 0.884 P -1.046 T 0.014 T 0.015 T Pathogenic 15_90208310_A->T 15 90208310 90208310 A T snp 207.77 0/1 99 18 10 8 0.44 UTR3 rs1052700 PLIN1 AD 0.279553 0.4554 Uncertain 15_90210263_A->G 15 90210263 90210263 A G snp 1052.77 0/1 99 89 44 45 0.51 exonic rs2304795 PLIN1 AD synonymous SNV NM_002666 exon8 c.T1113C p.P371P 0.396366 0.3135 0.381059 0.3797 0.2876 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000117991.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 15_90210484_G->T 15 90210484 90210484 G T snp 80.77 0/1 69 5 2 3 0.6 intronic rs3825990 PLIN1 AD NM_002666 exon2 c.1599+72G>T 0.0810703 0.0308 Uncertain 15_90211047_A->T 15 90211047 90211047 A T snp 153.77 0/1 99 24 18 6 0.25 intronic rs894162 PLIN1 AD NM_002666 exon3 c.2211+23A>T 0.884784 0.752 0.972765 0.9577 0.7727 Uncertain 15_90213134_T->A 15 90213134 90213134 T A snp 275.77 0/1 99 28 16 12 0.43 intronic rs2304794 PLIN1 AD NM_002666 exon5 c.4397-76T>A 0.896166 0.7609 Uncertain 15_90213229_G->C 15 90213229 90213229 G C snp 1180.77 0/1 99 123 73 50 0.41 exonic rs6496589 PLIN1 AD nonsynonymous SNV NM_002666 exon5 c.C580G p.P194A 0.895767 0.7619 0.989383 0.9382 0.7375 0.6 T 0.0 P -0.938 T 0.002 T 0.019 T CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000117994.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 ID=CM150776;DIS=Obesity, reduced risk;TAG=DFP;PUB=25529448 DFP Pathogenic 15_90214948_C->A 15 90214948 90214948 C A snp 591.77 0/1 99 34 15 19 0.56 intronic rs1077903 PLIN1 AD NM_002666 exon6 c.5982+153C>A 0.885783 0.7589 Uncertain 15_90320121_AGGGGCAGGGGCAAGGGCAGGGGC->- 15 90320121 90320144 AGGGGCAGGGGCAAGGGCAGGGGC - indel 6193.73 1/1 98 44 0 44 1.0 exonic rs200021459 MESP2 AU nonframeshift deletion NM_001039958 exon1 c.533_556del p.178_186del 0.696286 0.8879 0.662685 0.3611 0.7336 ID=COSM128727;OCCURENCE=1(urinary_tract),1(upper_aerodigestive_tract) Uncertain 15_90340666_-->T 15 90340666 90340666 - T indel 164.73 0/1 99 19 9 10 0.53 intronic rs3214806 ANPEP AU NM_001150 exon7 c.12226-139insT 0.265974 0.249 Uncertain 15_90340719_G->A 15 90340719 90340719 G A snp 1402.77 1/1 99 51 0 51 1.0 intronic rs893615 ANPEP AU NM_001150 exon7 c.12226-86G>A 0.761981 0.6627 Uncertain 15_90340725_A->C 15 90340725 90340725 A C snp 1670.77 1/1 99 60 0 60 1.0 intronic rs3934 ANPEP AU NM_001150 exon7 c.12226-80A>C 0.794129 0.7698 Uncertain 15_90344352_T->C 15 90344352 90344352 T C snp 2717.77 1/1 99 96 0 96 1.0 exonic rs8192297 ANPEP AU nonsynonymous SNV NM_001150 exon12 c.A1809G p.I603M 0.220847 0.253 0.142022 0.1945 0.2681 0.19 T 0.0 P -0.996 T 0.0 T 0.0 T Pathogenic 15_90393808_G->C 15 90393808 90393808 G C snp 331.77 0/1 99 31 16 15 0.48 intronic rs4932252 AP3S2 AU NM_005829 exon2 c.2208+12854G>C 0.182109 0.1567 Uncertain 15_90393949_-->T 15 90393949 90393949 - T indel 240 1/1 12 19 1 18 0.95 ncRNA_exonic rs11435035 MIR5094 AU 0.63119 0.6756 0 . Uncertain 15_90414642_C->G 15 90414642 90414642 C G snp 2271.77 1/1 99 86 0 86 1.0 intronic rs3759831 AP3S2 AU NM_005829 exon3 c.35960-64C>G 0.758187 0.7986 0.737604 Uncertain 15_90420673_G->A 15 90420673 90420673 G A snp 2848.77 1/1 99 92 0 92 1.0 intronic rs12440156 AP3S2 AU NM_005829 exon3 c.36032+5895G>A 0.75619 0.8016 0.7164 0.815 Uncertain 15_90437301_C->T 15 90437301 90437301 C T snp 1162.77 0/1 99 106 58 48 0.45 UTR5 rs3784388 AP3S2 AU 0.503994 0.621 Uncertain 15_90437370_G->A 15 90437370 90437370 G A snp 257.77 0/1 99 18 9 9 0.5 UTR5 rs3784387 AP3S2 AU 0.504193 0.622 Uncertain 15_90455899_A->C 15 90455899 90455899 A C snp 57.77 0/1 71 14 7 7 0.5 UTR5 ARPIN AU Uncertain 15_90455940_G->C 15 90455940 90455940 G C snp 528.77 1/1 39 17 0 17 1.0 intronic rs1256836 ARPIN AU NM_001282380 exon6 c.10893+21G>C 0.614018 0.747 0.7652 0.7333 Uncertain 15_90456179_G->A 15 90456179 90456179 G A snp 211.84 1/1 18 7 0 7 1.0 UTR5 rs1256835 ARPIN AU 0.554113 0.7292 Uncertain 15_90611818_C->A 15 90611818 90611818 C A snp 654.77 0/1 99 59 33 26 0.44 exonic rs75398740 ZNF710 AU synonymous SNV NM_198526 exon2 c.C1449A p.L483L 0.071885 0.1498 0.034857 0.0292 0.1568 ID=COSM147980;OCCURENCE=1(stomach) Uncertain 15_90623052_T->C 15 90623052 90623052 T C snp 1072.77 0/1 99 78 34 44 0.56 exonic rs2970357 ZNF710 AU synonymous SNV NM_198526 exon5 c.T1986C p.N662N 0.672324 0.8244 0.539551 0.5410 0.8318 Uncertain 15_90744960_G->A 15 90744960 90744960 G A snp 576.77 1/1 42 21 0 21 1.0 exonic rs11547964 SEMA4B AU synonymous SNV NM_198925 exon1 c.G150A p.L50L 0.296126 0.5685 0.112494 0.4462 0.6866 Uncertain 15_90763285_C->A 15 90763285 90763285 C A snp 1618.77 1/1 99 47 1 46 0.98 intronic rs3751658 SEMA4B AU NM_198925 exon4 c.18313+162C>A 0.276757 0.6071 Uncertain 15_90764203_C->A 15 90764203 90764203 C A snp 2538.77 1/1 99 92 1 91 0.99 intronic rs3825998 SEMA4B AU NM_198925 exon5 c.19403-10C>A 0.324681 0.6081 0.163544 0.2470 0.6309 Uncertain 15_90764219_G->A 15 90764219 90764219 G A snp 2973.77 1/1 99 106 0 106 1.0 exonic rs4932305 SEMA4B AU nonsynonymous SNV NM_198925 exon5 c.G489A p.M163I 0.276957 0.6081 0.121635 0.2503 0.6488 0.47 T 0.0 P -0.985 T 0.0 T 0.001 T Pathogenic 15_90764348_C->G 15 90764348 90764348 C G snp 3869.77 1/1 99 142 0 142 1.0 intronic rs3825999 SEMA4B AU NM_198925 exon5 c.19515+23C>G 0.577476 0.7867 0.459591 0.5634 0.8411 Uncertain 15_90764359_T->G 15 90764359 90764359 T G snp 3594.77 1/1 99 130 0 130 1.0 intronic rs3826001 SEMA4B AU NM_198925 exon5 c.19515+34T>G 0.632788 0.7877 0.400096 0.5786 0.8334 Uncertain 15_90765094_G->- 15 90765094 90765094 G - indel 1055.73 1/1 75 25 0 25 1.0 intronic rs66795544 SEMA4B AU NM_198925 exon7 c.20187+97delG 0.684105 0.7877 Uncertain 15_90765104_A->G 15 90765104 90765104 A G snp 692.77 1/1 51 20 0 20 1.0 intronic rs35147120 SEMA4B AU NM_198925 exon7 c.20187+107A>G 0.671126 0.7877 Uncertain 15_90766754_A->G 15 90766754 90766754 A G snp 695.77 1/1 51 24 0 24 1.0 intronic rs908048 SEMA4B AU NM_198925 exon8 c.21980-36A>G 0.797524 0.9147 0.709439 0.7381 0.9354 Uncertain 15_90767334_C->G 15 90767334 90767334 C G snp 174.77 0/1 99 12 6 6 0.5 intronic rs34626287 SEMA4B AU NM_198925 exon9 c.22410+114C>G 0.196685 0.2123 Uncertain 15_90768156_A->G 15 90768156 90768156 A G snp 2299.77 1/1 99 77 0 77 1.0 intronic rs1040083 SEMA4B AU NM_198925 exon10 c.23389-43A>G 0.951877 0.999 0.878190 0.8792 0.9972 Uncertain 15_90768320_C->T 15 90768320 90768320 C T snp 3529.77 1/1 99 126 0 126 1.0 exonic rs11073918 SEMA4B AU synonymous SNV NM_198925 exon10 c.C1315T p.L439L 0.261182 0.37 0.192223 0.2612 0.3402 Uncertain 15_90770839_C->T 15 90770839 90770839 C T snp 2688.77 0/1 99 247 127 120 0.49 exonic rs143185707 SEMA4B AU nonsynonymous SNV NM_198925 exon13 c.C1739T p.A580V 0.00439297 0.0198 0.000563 0.0022 0.0128 0.18 T 1 N -1.012 T 0.003 T 0.005 T Pathogenic 15_90771060_C->A 15 90771060 90771060 C A snp 2546.77 1/1 99 82 0 82 1.0 intronic rs2271553 SEMA4B AU NM_198925 exon14 c.26325-75C>A 0.582468 0.8016 Uncertain 15_90771750_T->G 15 90771750 90771750 T G snp 3660.77 1/1 99 125 0 125 1.0 exonic rs3751655 SEMA4B AU nonsynonymous SNV NM_198925 exon14 c.T2389G p.S797A 0.792931 0.8026 0.713038 0.6935 0.8138 0.5 T 1.000 P -1.044 T 0.002 T 0.002 T Pathogenic 15_90772200_G->A 15 90772200 90772200 G A snp 2542.77 1/1 99 78 0 78 1.0 UTR3 rs1044246 SEMA4B AU 0.405551 0.6935 Uncertain 15_90772831_C->T 15 90772831 90772831 C T snp 2197.77 1/1 99 71 0 71 1.0 UTR3 rs7024 SEMA4B AU 0.61901 0.7996 Uncertain 15_90773782_C->T 15 90773782 90773782 C T snp 2258.77 1/1 99 87 0 87 1.0 intronic rs2073706 CIB1 AU NM_006384 exon1 c.22+45C>T 0.579473 0.8006 0.412505 0.5381 0.8420 Uncertain 15_90774039_C->T 15 90774039 90774039 C T snp 56.74 1/1 6 2 0 2 1.0 intronic rs2073705 CIB1 AU NM_006384 exon2 c.450-126C>T 0.395767 0.6925 Uncertain 15_90774259_G->C 15 90774259 90774259 G C snp 3314.77 1/1 99 105 0 105 1.0 splicing rs1044813 CIB1 AU NM_006384 exon2 c.539+5G>C 0.396565 0.6935 0.222410 0.3253 0.6977 Pathogenic 15_90774448_AGAG->- 15 90774448 90774451 AGAG - indel 16723.7 1/1 99 245 0 245 1.0 splicing rs34604050 CIB1 AU NM_006384 exon3 c.730+3_730+6delAGAG 0.593051 0.8016 0.458460 0.5403 0.8118 Pathogenic 15_90775397_G->A 15 90775397 90775397 G A snp 2198.77 1/1 99 74 0 74 1.0 intronic rs2073703 CIB1 AU NM_006384 exon5 c.1735-53G>A 0.59385 0.7996 Uncertain 15_90775700_G->A 15 90775700 90775700 G A snp 1949.77 1/1 99 61 0 61 1.0 intronic rs4628940 CIB1 AU NM_001277764 exon5 c.1964+21G>A 0.620407 0.7996 Uncertain 15_90776732_G->A 15 90776732 90776732 G A snp 52.74 1/1 6 2 0 2 1.0 intronic rs4932306 CIB1 AU NM_006384 exon6 c.3185-168G>A 0.463658 0.6875 Uncertain 15_90784207_A->G 15 90784207 90784207 A G snp 4526.77 1/1 99 175 0 175 1.0 exonic rs7166441 GDPGP1 AU nonsynonymous SNV NM_001013657 exon4 c.A67G p.R23G 0.9998 1 0.999846 0.9999 0.9999 0.45 T 0.0 P -1.014 T 0.0 T 0.0 T Pathogenic 15_90784250_T->C 15 90784250 90784250 T C snp 4911.77 1/1 99 184 0 184 1.0 exonic rs7171194 GDPGP1 AU nonsynonymous SNV NM_001013657 exon4 c.T110C p.M37T 0.820487 0.7996 0.747037 0.7020 0.8171 0.61 T 0.0 P -1.034 T 0.0 T 0.0 T Pathogenic 15_90794102_G->A 15 90794102 90794102 G A snp 1664.77 1/1 99 60 0 60 1.0 ncRNA_exonic rs4932171 TTLL13P AU 0.39996 0.6885 0.241610 0.3359 0.6951 Uncertain 15_90794188_C->T 15 90794188 90794188 C T snp 376.77 1/1 30 10 0 10 1.0 ncRNA_intronic rs4932309 TTLL13P AU 0.39996 0.6885 Uncertain 15_90794757_T->G 15 90794757 90794757 T G snp 5364.77 1/1 99 205 0 205 1.0 ncRNA_intronic rs4357917 TTLL13P AU 0.628794 0.6885 0.532477 0.4925 0.6987 Uncertain 15_90794845_G->A 15 90794845 90794845 G A snp 3550.77 1/1 99 133 0 133 1.0 ncRNA_intronic rs2882858 TTLL13P AU 0.395168 0.6885 0.236802 0.3327 0.6978 Uncertain 15_90796558_G->A 15 90796558 90796558 G A snp 4905.77 1/1 99 183 1 182 0.99 ncRNA_exonic rs12912620 TTLL13P AU 0.395966 0.6885 0.237648 0.3438 0.6972 0.49 T 0.007 P -1.063 T 0.075 T 0.024 T Uncertain 15_90796704_C->T 15 90796704 90796704 C T snp 2711.77 1/1 99 88 0 88 1.0 ncRNA_intronic rs12914094 TTLL13P AU 0.396965 0.6915 Uncertain 15_90796772_T->C 15 90796772 90796772 T C snp 536.77 1/1 42 14 0 14 1.0 ncRNA_intronic rs11629778 TTLL13P AU 0.603634 0.6915 Uncertain 15_90798953_C->T 15 90798953 90798953 C T snp 3602.77 1/1 99 128 0 128 1.0 ncRNA_intronic rs2063739 TTLL13P AU 0.376997 0.6925 0.221795 0.3302 0.7028 Uncertain 15_90799282_A->G 15 90799282 90799282 A G snp 1074.77 1/1 78 33 0 33 1.0 ncRNA_intronic rs1996179 TTLL13P AU 0.378195 0.6935 Uncertain 15_90800293_G->A 15 90800293 90800293 G A snp 4220.77 1/1 99 158 0 158 1.0 ncRNA_intronic rs2063741 TTLL13P AU 0.377196 0.6935 Uncertain 15_90800408_C->G 15 90800408 90800408 C G snp 4711.77 1/1 99 166 0 166 1.0 ncRNA_exonic rs2063742 TTLL13P AU 0.378195 0.6925 0.223180 0.3305 0.7024 Uncertain 15_90800449_C->T 15 90800449 90800449 C T snp 3228.29 1/1 99 115 0 115 1.0 ncRNA_exonic rs2063743 TTLL13P AU 0.377196 0.6925 0.222103 0.3303 0.7026 0.05 T 0.000 P -1.030 T 0.001 T 0.009 T Uncertain 15_90801248_C->A 15 90801248 90801248 C A snp 2861.77 1/1 99 86 0 86 1.0 ncRNA_intronic rs2048706 TTLL13P AU 0.383986 0.6925 0.229337 0.3371 0.7039 Uncertain 15_90801584_G->C 15 90801584 90801584 G C snp 1349.77 1/1 99 39 0 39 1.0 ncRNA_intronic rs2048707 TTLL13P AU 0.429912 0.7093 Uncertain 15_90805084_A->G 15 90805084 90805084 A G snp 595.77 1/1 45 18 0 18 1.0 intergenic rs12592600 TTLL13P AU 0.790136 0.8056 Uncertain 15_90809633_G->A 15 90809633 90809633 G A snp 3825.77 1/1 99 152 1 151 0.99 splicing rs9635390 NGRN AU NM_001033088 exon2 c.686+3G>A 0.91853 0.8641 0.966056 0.9263 0.8704 Pathogenic 15_90818331_G->T 15 90818331 90818331 G T snp 339.78 1/1 27 11 0 11 1.0 intergenic rs4552007 NGRN AU 0.509385 0.6885 0.5040 0.7091 Uncertain 15_90818400_A->T 15 90818400 90818400 A T snp 1699.77 1/1 99 62 0 62 1.0 intergenic rs4533265 NGRN AU 0.603435 0.6905 0.4970 0.7093 0 D -0.982 T Uncertain 15_90818469_C->T 15 90818469 90818469 C T snp 2851.77 1/1 99 102 0 102 1.0 intergenic rs12595409 NGRN AU 0.239217 0.3046 0.2748 0.2934 0.07 T Uncertain 15_90818641_G->C 15 90818641 90818641 G C snp 5975.77 1/1 99 205 0 205 1.0 intergenic rs2063744 NGRN AU 0.239417 0.3065 0.2865 0.3105 0.17 T -1.040 T Uncertain 15_90818827_G->A 15 90818827 90818827 G A snp 5333.77 1/1 99 187 0 187 1.0 intergenic rs4595780 NGRN AU 0.453275 0.6895 0.3671 0.7096 1 T -0.953 T Uncertain 15_90891982_A->G 15 90891982 90891982 A G snp 369.77 1/1 30 11 0 11 1.0 ncRNA_exonic rs3803539 GABARAPL3 AU 0.172524 0.2361 Uncertain 15_90892293_C->T 15 90892293 90892293 C T snp 2725.77 1/1 99 79 0 79 1.0 ncRNA_exonic rs2589973 GABARAPL3 AU 0.578275 0.7877 0.4332 0.8059 1 T 0.000 P -0.954 T Uncertain 15_90892585_G->C 15 90892585 90892585 G C snp 756.8 1/1 21 22 1 21 0.95 ncRNA_exonic rs7162211 GABARAPL3 AU 0.319888 0.3472 Uncertain 15_90897885_G->C 15 90897885 90897885 G C snp 2822.77 1/1 99 104 0 104 1.0 UTR5 rs8042825 ZNF774 AU 0.314896 0.3472 0.254425 0.3134 0.4056 Uncertain 15_90897952_C->T 15 90897952 90897952 C T snp 2186.77 1/1 99 78 0 78 1.0 exonic rs8023776 ZNF774 AU synonymous SNV NM_001004309 exon2 c.C60T p.L20L 0.316494 0.3472 0.259120 0.2591 0.3503 Uncertain 15_90898527_C->T 15 90898527 90898527 C T snp 4051.77 1/1 99 142 0 142 1.0 intronic rs16944254 ZNF774 AU NM_001004309 exon2 c.104+531C>T 0.319888 0.3472 Uncertain 15_90903311_A->G 15 90903311 90903311 A G snp 2972.77 1/1 99 106 0 106 1.0 exonic rs2589957 ZNF774 AU nonsynonymous SNV NM_001004309 exon4 c.A248G p.N83S 0.6875 0.8393 0.566338 0.5618 0.8574 0.62 T 0.000 P -1.030 T 0.0 T 0.0 T Pathogenic 15_90931363_C->T 15 90931363 90931363 C T snp 174.9 1/1 15 5 0 5 1.0 upstream rs2589940 IQGAP1 AU 0.677716 0.8204 Uncertain 15_90931457_C->T 15 90931457 90931457 C T snp 2087.77 1/1 99 78 0 78 1.0 upstream rs2589941 IQGAP1 AU 0.677716 0.8204 Uncertain 15_90931720_G->A 15 90931720 90931720 G A snp 472.77 1/1 36 14 0 14 1.0 intronic rs111592783 IQGAP1 AU NM_003870 exon1 c.55+92G>A 0.161142 0.2004 Uncertain 15_90969137_T->C 15 90969137 90969137 T C snp 141.03 1/1 12 4 0 4 1.0 intronic rs1206680 IQGAP1 AU NM_003870 exon3 c.37768-204T>C 0.995807 1 Uncertain 15_90969195_A->T 15 90969195 90969195 A T snp 799.77 1/1 60 22 0 22 1.0 intronic rs2301827 IQGAP1 AU NM_003870 exon3 c.37768-146A>T 0.205871 0.2034 Uncertain 15_90969335_G->T 15 90969335 90969335 G T snp 3572.77 1/1 99 133 0 133 1.0 intronic rs2256388 IQGAP1 AU NM_003870 exon3 c.37768-6G>T 0.678115 0.8185 0.561345 0.5566 0.8470 Uncertain 15_90982756_C->T 15 90982756 90982756 C T snp 1439.77 1/1 99 50 0 50 1.0 intronic rs6496675 IQGAP1 AU NM_003870 exon6 c.51058+125C>T 0.426118 0.377 Uncertain 15_90983706_T->C 15 90983706 90983706 T C snp 2834.77 1/1 99 95 0 95 1.0 intronic rs8027211 IQGAP1 AU NM_003870 exon7 c.52160-27T>C 0.190296 0.2054 0.175443 0.2225 0.2832 Uncertain 15_90992687_A->G 15 90992687 90992687 A G snp 139.03 1/1 12 4 0 4 1.0 intronic rs2301829 IQGAP1 AU NM_003870 exon11 c.61217-103A>G 0.200679 0.2054 Uncertain 15_90999715_A->T 15 90999715 90999715 A T snp 139.03 1/1 12 4 0 4 1.0 intronic rs8033813 IQGAP1 AU NM_003870 exon15 c.67974+168A>T 0.687101 0.8224 Uncertain 15_91009147_T->G 15 91009147 91009147 T G snp 852.77 1/1 63 22 0 22 1.0 intronic rs2074581 IQGAP1 AU NM_003870 exon16 c.77659-85T>G 0.198882 0.2063 Uncertain 15_91009177_A->G 15 91009177 91009177 A G snp 1686.77 1/1 99 49 0 49 1.0 intronic rs2074582 IQGAP1 AU NM_003870 exon16 c.77659-55A>G 0.20008 0.2063 0.183216 Uncertain 15_91009192_T->C 15 91009192 91009192 T C snp 2116.77 1/1 99 68 0 68 1.0 intronic rs2074583 IQGAP1 AU NM_003870 exon16 c.77659-40T>C 0.464058 0.6488 0.325585 0.3979 0.6905 Uncertain 15_91009381_G->A 15 91009381 91009381 G A snp 5322.77 1/1 99 174 0 174 1.0 intronic rs2074584 IQGAP1 AU NM_003870 exon16 c.77750+58G>A 0.46266 0.6468 Uncertain 15_91009484_G->A 15 91009484 91009484 G A snp 5306.77 1/1 99 182 0 182 1.0 intronic rs2074585 IQGAP1 AU NM_003870 exon17 c.77927-16G>A 0.759185 0.8194 0.662485 0.6266 0.8471 Uncertain 15_91010776_T->C 15 91010776 91010776 T C snp 1609.77 1/1 99 60 0 60 1.0 exonic rs1505936 IQGAP1 AU synonymous SNV NM_003870 exon18 c.T2130C p.P710P 0.436102 0.377 0.445505 0.3556 0.3767 Uncertain 15_91017232_G->A 15 91017232 91017232 G A snp 4648.77 1/1 99 165 0 165 1.0 intronic rs1145325 IQGAP1 AU NM_003870 exon21 c.85626+33G>A 0.982827 1 0.961438 0.9637 1 Uncertain 15_91017274_-->TTC 15 91017274 91017274 - TTC indel 7312.73 1/1 99 157 2 155 0.99 intronic rs10657378 IQGAP1 AU NM_003870 exon22 c.85722-21insTTC 0.436502 0.377 0.447604 0.3553 0.3751 Uncertain 15_91026459_G->A 15 91026459 91026459 G A snp 222.84 1/1 18 6 0 6 1.0 intronic rs8030299 IQGAP1 AU NM_003870 exon29 c.95019-133G>A 0.424321 0.374 Uncertain 15_91026477_T->C 15 91026477 91026477 T C snp 533.77 1/1 42 15 0 15 1.0 intronic rs8040585 IQGAP1 AU NM_003870 exon29 c.95019-115T>C 0.42512 0.374 Uncertain 15_91026973_A->T 15 91026973 91026973 A T snp 48.74 1/1 6 2 0 2 1.0 intronic rs16944500 IQGAP1 AU NM_003870 exon29 c.95252+148A>T 0.199681 0.2024 Uncertain 15_91034456_A->G 15 91034456 91034456 A G snp 385.77 1/1 30 11 0 11 1.0 intronic rs6496678 IQGAP1 AU NM_003870 exon34 c.102991-108A>G 0.446486 0.3948 Uncertain 15_91037754_G->A 15 91037754 91037754 G A snp 56.74 1/1 6 2 0 2 1.0 intronic rs28516870 IQGAP1 AU NM_003870 exon36 c.106371-190G>A 0.199681 0.2024 Uncertain 15_91043184_CTGT->- 15 91043184 91043187 CTGT - indel 1944.73 1/1 87 29 0 29 1.0 intronic rs201766044 IQGAP1 AU NM_003870 exon38 c.111653-42_111653-39delCTGT 0.179428 0.1639 0.1645 Uncertain 15_91043193_TGTT->- 15 91043193 91043196 TGTT - indel 1661.73 1/1 87 29 0 29 1.0 intronic rs757565677 IQGAP1 AU NM_003870 exon38 c.111653-33_111653-30delTGTT 0.1394 0.1730 Uncertain 15_91043197_T->A 15 91043197 91043197 T A snp 995.77 1/1 72 29 0 29 1.0 intronic rs766657684 IQGAP1 AU NM_003870 exon38 c.111653-29T>A 0.3302 0.2310 Uncertain 15_91073465_CGGCCA->- 15 91073465 91073470 CGGCCA - indel 5973.73 1/1 99 97 1 96 0.99 intronic rs139118057 CRTC3 AU NM_022769 exon1 c.132+30_132+35delCGGCCA 0.290935 0.4335 0.168584 0.2245 0.5 Uncertain 15_91083186_C->T 15 91083186 91083186 C T snp 2023.77 1/1 99 60 0 60 1.0 intronic rs7174198 CRTC3 AU NM_022769 exon2 c.9967-84C>T 0.288139 0.4306 Uncertain 15_91141615_AGA->- 15 91141615 91141617 AGA - indel 924.73 0/1 99 51 29 22 0.43 intronic rs35117128 CRTC3 AU NM_022769 exon4 c.72252-3940_72252-3938delAGA 0.0595048 0.1181 Uncertain 15_91141770_G->A 15 91141770 91141770 G A snp 414.77 0/1 99 38 19 19 0.5 intronic rs12442767 CRTC3 AU NM_022769 exon4 c.72252-3785G>A 0.0595048 0.1181 0.0116 0.115 Uncertain 15_91141810_A->C 15 91141810 91141810 A C snp 641.77 1/1 48 19 0 19 1.0 intronic rs7180867 CRTC3 AU NM_022769 exon4 c.72252-3745A>C 0.900958 0.8978 Uncertain 15_91150455_T->C 15 91150455 91150455 T C snp 540.77 0/1 99 54 35 19 0.35 intronic rs117541860 CRTC3 AU NM_022769 exon6 c.77306-154T>C 0.0123802 0.0486 Uncertain 15_91161053_G->A 15 91161053 91161053 G A snp 1298.77 0/1 99 92 42 50 0.54 intronic rs116946190 CRTC3 AU NM_022769 exon8 c.87811-61G>A 0.0167732 0.0486 Uncertain 15_91161164_G->A 15 91161164 91161164 G A snp 2737.77 0/1 99 215 98 117 0.54 exonic rs77748519 CRTC3 AU synonymous SNV NM_001042574 exon8 c.G663A p.P221P 0.0123802 0.0486 0.0090 0.0459 Uncertain 15_91181567_C->T 15 91181567 91181567 C T snp 363.77 0/1 99 24 12 12 0.5 ncRNA_intronic rs6496717 CRTC3-AS1 AU 0.629792 0.631 Uncertain 15_91185204_G->A 15 91185204 91185204 G A snp 516.77 0/1 99 50 31 19 0.38 exonic rs2286288 CRTC3 AU synonymous SNV NM_001042574 exon15 c.G1689A p.A563A 0.0121805 0.0476 0.001385 0.0089 0.0434 Uncertain 15_91347302_G->A 15 91347302 91347302 G A snp 94.28 1/1 9 3 0 3 1.0 intronic rs2301602 BLM AR NM_001287248 exon19 c.43982-94G>A 0.670327 0.8095 Uncertain 15_91358271_-->GAA 15 91358271 91358271 - GAA indel 3528.73 1/1 99 61 0 61 1.0 intronic rs10685387 BLM AR NM_001287248 exon22 c.54917-60insGAA 0.66853 0.8115 Uncertain 15_91424574_G->C 15 91424574 91424574 G C snp 7370.77 1/1 99 250 0 250 1.0 exonic rs6226 FURIN AU synonymous SNV NM_002569 exon16 c.G1851C p.G617G 0.721845 0.5357 0.764049 0.6810 0.5316 Uncertain 15_91428290_C->T 15 91428290 91428290 C T snp 1538.77 1/1 99 46 0 46 1.0 exonic rs11539637 FES AU synonymous SNV NM_001143783 exon1 c.C15T p.S5S 0.58746 0.8065 0.493688 0.5849 0.8366 Uncertain 15_91428589_T->G 15 91428589 91428589 T G snp 4066.77 1/1 99 137 0 137 1.0 intronic rs7183988 FES AU NM_001143784 exon2 c.366-52T>G 0.592053 0.8085 0.5858 0.8350 Uncertain 15_91428636_G->A 15 91428636 91428636 G A snp 4198.77 1/1 99 156 0 156 1.0 splicing rs7177338 FES AU NM_001143784 exon2 c.366-5G>A 0.587859 0.8006 0.507938 0.5809 0.8332 Pathogenic 15_91429979_A->G 15 91429979 91429979 A G snp 56.74 1/1 6 2 0 2 1.0 intronic rs7402187 FES AU NM_001143783 exon2 c.1915-211A>G 0.936102 0.8909 Uncertain 15_91430436_T->C 15 91430436 91430436 T C snp 6344.77 1/1 99 228 0 228 1.0 exonic rs2071383 FES AU synonymous SNV NM_001143783 exon3 c.T330C p.A110A 0.9377 0.8909 0.955203 0.9608 0.9181 Uncertain 15_91430617_G->A 15 91430617 91430617 G A snp 806.77 1/1 60 27 0 27 1.0 intronic rs2071384 FES AU NM_001143783 exon3 c.2325+17G>A 0.453674 0.7817 0.290954 0.4634 0.8148 Uncertain 15_91433265_C->G 15 91433265 91433265 C G snp 1620.77 1/1 99 62 0 62 1.0 intronic rs4932376 FES AU NM_001143783 exon7 c.5046-56C>G 0.452476 0.7897 Uncertain 15_91435172_GTGGTCCCACCCCTG->- 15 91435172 91435186 GTGGTCCCACCCCTG - indel 18522.7 1/1 99 105 0 105 1.0 intronic rs146988155 FES AU NM_001143783 exon11 c.7012-115_7012-101delGTGGTCCCACCCCTG 0.135783 0.4008 Uncertain 15_91435422_G->A 15 91435422 91435422 G A snp 1735.77 1/1 99 57 0 57 1.0 intronic rs12909124 FES AU NM_001143783 exon11 c.7066+81G>A 0.457069 0.7887 Uncertain 15_91447686_G->A 15 91447686 91447686 G A snp 182.9 1/1 15 5 0 5 1.0 intronic rs2238340 MAN2A2 AU NM_006122 exon1 c.132+117G>A 0.340056 0.5843 Uncertain 15_91449015_A->G 15 91449015 91449015 A G snp 4982.77 1/1 99 181 1 180 0.99 intronic rs2072078 MAN2A2 AU NM_006122 exon4 c.1637-59A>G 0.361422 0.6002 Uncertain 15_91450441_G->A 15 91450441 91450441 G A snp 1149.77 1/1 87 34 0 34 1.0 intronic rs2677744 MAN2A2 AU NM_006122 exon7 c.3101-97G>A 0.70647 0.9851 Uncertain 15_91452595_A->G 15 91452595 91452595 A G snp 3179.76 1/1 99 116 0 116 1.0 exonic rs2106673 MAN2A2 AU nonsynonymous SNV NM_006122 exon8 c.A1235G p.Q412R 0.511581 0.9673 0.307343 0.4077 0.9741 0.54 T 1.000 P -0.987 T 0.0 T 0.001 T Pathogenic 15_91452836_T->C 15 91452836 91452836 T C snp 92.77 0/1 99 8 4 4 0.5 intronic rs2677748 MAN2A2 AU NM_006122 exon8 c.5297+102T>C 0.357628 0.5724 Uncertain 15_91452837_T->C 15 91452837 91452837 T C snp 65.77 0/1 94 6 3 3 0.5 intronic MAN2A2 AU NM_006122 exon8 c.5297+103T>C Uncertain 15_91455618_C->T 15 91455618 91455618 C T snp 1747.77 1/1 99 49 0 49 1.0 intronic rs6496737 MAN2A2 AU NM_006122 exon14 c.8072+109C>T 0.348243 0.5813 Uncertain 15_91456102_T->C 15 91456102 91456102 T C snp 3056.77 1/1 99 104 0 104 1.0 splicing rs1266492 MAN2A2 AU NM_006122 exon16 c.8669-4T>C 0.639577 0.9673 0.442965 0.4476 0.9747 Pathogenic 15_91474738_G->C 15 91474738 91474738 G C snp 3044.77 0/1 99 250 124 126 0.5 UTR3 rs1052535 HDDC3 AU 0.339058 0.5933 0.263239 0.3072 0.5845 Uncertain 15_91478544_A->C 15 91478544 91478544 A C snp 985.77 0/1 99 94 52 42 0.45 UTR5 rs17635974 UNC45A AU 0.335463 0.5962 0.242055 0.3514 0.6124 Uncertain 15_91479054_T->C 15 91479054 91479054 T C snp 369.77 0/1 99 33 19 14 0.42 intronic rs2289619 UNC45A AU NM_018671 exon2 c.381+119T>C 0.521965 0.5933 Uncertain 15_91479069_G->A 15 91479069 91479069 G A snp 409.77 0/1 99 41 20 21 0.51 intronic rs2289618 UNC45A AU NM_018671 exon3 c.621-106G>A 0.0443291 0.1667 Uncertain 15_91482935_G->C 15 91482935 91482935 G C snp 961.77 1/1 69 36 0 36 1.0 intronic rs12440774 UNC45A AU NM_018671 exon5 c.4406-25G>C 0.765974 0.995 0.576586 0.5732 0.9963 Uncertain 15_91483392_A->G 15 91483392 91483392 A G snp 83.77 0/1 67 5 2 3 0.6 intronic rs11073961 UNC45A AU NM_018671 exon6 c.4981-143A>G 0.326078 0.5903 Uncertain 15_91483494_C->T 15 91483494 91483494 C T snp 361.77 0/1 99 41 21 20 0.49 intronic rs17635998 UNC45A AU NM_018671 exon6 c.4981-41C>T 0.16254 0.373 0.027940 0.0936 0.3894 Uncertain 15_91483520_G->A 15 91483520 91483520 G A snp 679.77 0/1 99 59 29 30 0.51 intronic rs72630486 UNC45A AU NM_018671 exon6 c.4981-15G>A 0.257987 0.374 0.129772 0.1272 0.3911 Uncertain 15_91491206_-->CT 15 91491206 91491206 - CT indel 2660.73 1/1 99 51 0 51 1.0 intronic rs10635983 UNC45A AU NM_018671 exon11 c.12566+86insCT 0.762979 0.996 Uncertain 15_91491216_T->C 15 91491216 91491216 T C snp 618.77 0/1 99 40 18 22 0.55 intronic rs2304940 UNC45A AU NM_018671 exon11 c.12566+96T>C 0.209065 0.378 Uncertain 15_91491760_C->T 15 91491760 91491760 C T snp 253.77 0/1 99 23 12 11 0.48 intronic rs2304941 UNC45A AU NM_018671 exon13 c.13329-123C>T 0.208666 0.377 Uncertain 15_91492877_C->T 15 91492877 91492877 C T snp 796.77 0/1 99 66 32 34 0.52 intronic rs749938 UNC45A AU NM_018671 exon15 c.14329-6C>T 0.270966 0.379 0.157020 0.2044 0.4086 Uncertain 15_91493059_T->C 15 91493059 91493059 T C snp 620.77 0/1 99 48 24 24 0.5 intronic rs17636026 UNC45A AU NM_018671 exon15 c.14396+109T>C 0.264776 0.3849 Uncertain 15_91499986_G->T 15 91499986 91499986 G T snp 967.77 0/1 99 56 20 36 0.64 exonic rs4932380 RCCD1 AU nonsynonymous SNV NM_001017919 exon2 c.G22T p.A8S 0.189896 0.3819 0.066234 0.2698 0.5215 0.52 T 0.000 P -0.999 T 0.019 T 0.011 T Pathogenic 15_91500260_A->G 15 91500260 91500260 A G snp 135.77 0/1 99 12 7 5 0.42 intronic rs11073963 RCCD1 AU NM_033544 exon4 c.378-82A>G 0.347045 0.5665 Uncertain 15_91503049_A->G 15 91503049 91503049 A G snp 791.77 1/1 57 30 0 30 1.0 intronic rs6496741 RCCD1 AU NM_033544 exon6 c.3165-80A>G 0.635982 0.994 Uncertain 15_91503752_T->C 15 91503752 91503752 T C snp 1348.77 1/1 99 43 0 43 1.0 intronic rs1867220 RCCD1 AU NM_033544 exon7 c.3764+24T>C 0.741613 0.996 0.509698 0.5112 0.9961 Uncertain 15_91504181_G->A 15 91504181 91504181 G A snp 1120.77 0/1 99 79 30 49 0.62 intronic rs3743451 RCCD1 AU NM_033544 exon8 c.4290-73G>A 0.221046 0.4534 0.086336 Uncertain 15_91512267_G->T 15 91512267 91512267 G T snp 492.77 0/1 99 30 12 18 0.6 ncRNA_intronic rs2290202 PRC1-AS1 AU 0.246605 0.5129 0.134929 0.1928 0.5007 Uncertain 15_91513833_GGA->- 15 91513833 91513835 GGA - indel 2651.73 1/1 99 51 0 51 1.0 ncRNA_intronic rs139256619 PRC1-AS1 AU 0.724641 0.996 Uncertain 15_91517479_G->A 15 91517479 91517479 G A snp 468.77 0/1 99 41 19 22 0.54 splicing rs17636091 PRC1 AU NM_003981 exon5 c.7116+3G>A 0.196486 0.4534 0.067272 0.1419 0.4768 CLINSIG=unknown;CLNDBN=Familial_cancer_of_breast;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000162266.1;CLNDSDB=GeneReviews:MedGen:OMIM:SNOMED_CT;CLNDSDBID=NBK1247:C0346153:114480:254843006 Pathogenic 15_91517780_G->C 15 91517780 91517780 G C snp 7433.77 1/1 99 250 0 250 1.0 ncRNA_intronic rs12898311 PRC1-AS1 AU 0.743011 0.996 0.507312 0.5064 0.9964 CLINSIG=unknown;CLNDBN=Familial_cancer_of_breast;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000162265.1;CLNDSDB=GeneReviews:MedGen:OMIM:SNOMED_CT;CLNDSDBID=NBK1247:C0346153:114480:254843006 Uncertain 15_91520099_A->G 15 91520099 91520099 A G snp 628.77 1/1 48 16 0 16 1.0 ncRNA_intronic rs8037254 PRC1-AS1 AU 0.734824 0.996 Uncertain 15_91523713_C->G 15 91523713 91523713 C G snp 827.77 0/1 99 68 31 37 0.54 ncRNA_intronic rs1867226 PRC1-AS1 AU 0.411342 0.5347 Uncertain 15_91523763_T->G 15 91523763 91523763 T G snp 191.77 0/1 99 12 6 6 0.5 ncRNA_intronic rs28584391 PRC1-AS1 AU 0.307109 0.5228 Uncertain 15_91524841_G->T 15 91524841 91524841 G T snp 7011.77 1/1 99 249 0 249 1.0 exonic rs7172758 PRC1 AU nonsynonymous SNV NM_001267580 exon4 c.C437A p.A146E 0.998802 1 0.996151 0.9970 1 1 T 0.014 P -0.954 T 0.0 T 0.0 T Pathogenic 15_91525197_C->T 15 91525197 91525197 C T snp 1798.77 0/1 99 147 65 82 0.56 exonic rs2301826 PRC1 AU synonymous SNV NM_001267580 exon3 c.G159A p.T53T 0.470647 0.5109 0.367149 0.3084 0.4991 CLINSIG=unknown;CLNDBN=Familial_cancer_of_breast;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000162257.1;CLNDSDB=GeneReviews:MedGen:OMIM:SNOMED_CT;CLNDSDBID=NBK1247:C0346153:114480:254843006 Uncertain 15_91527152_A->G 15 91527152 91527152 A G snp 101.77 0/1 99 13 9 4 0.31 ncRNA_intronic rs2285937 PRC1-AS1 AU 0.423722 0.5417 Uncertain 15_91527451_T->A 15 91527451 91527451 T A snp 1172.77 0/1 99 86 45 41 0.48 ncRNA_intronic rs8031684 PRC1-AS1 AU 0.422125 0.5347 CLINSIG=unknown;CLNDBN=Familial_cancer_of_breast;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000162255.1;CLNDSDB=GeneReviews:MedGen:OMIM:SNOMED_CT;CLNDSDBID=NBK1247:C0346153:114480:254843006 Uncertain 15_91528070_C->G 15 91528070 91528070 C G snp 1440.77 0/1 99 149 89 60 0.4 ncRNA_intronic rs2301825 PRC1-AS1 AU 0.247804 0.5089 0.137777 0.1927 0.5008 Uncertain 15_91542337_C->T 15 91542337 91542337 C T snp 771.77 0/1 99 72 41 31 0.43 intronic rs3743449 VPS33B AR NM_018668 exon1 c.80+53C>T 0.236422 0.4593 0.114895 Uncertain 15_91543282_TG->- 15 91543282 91543283 TG - indel 315.73 0/1 99 23 14 9 0.39 intronic rs112502327 VPS33B AR NM_018668 exon3 c.1001+77_1001+78delTG 0.213858 0.4603 Uncertain 15_91543761_C->T 15 91543761 91543761 C T snp 3003.77 1/1 99 115 0 115 1.0 exonic rs11073964 VPS33B AR nonsynonymous SNV NM_018668 exon20 c.G1540A p.G514S 0.767772 0.996 0.561268 0.5629 0.9965 1 T 0.027 P -0.932 T 0.006 T 0.003 T Pathogenic 15_91544831_C->T 15 91544831 91544831 C T snp 257.77 0/1 99 20 9 11 0.55 intronic rs12439887 VPS33B AR NM_018668 exon5 c.2488+139C>T 0.188698 0.4593 Uncertain 15_91544845_C->T 15 91544845 91544845 C T snp 192.77 0/1 99 12 5 7 0.58 intronic rs11073965 VPS33B AR NM_018668 exon5 c.2488+153C>T 0.232228 0.4593 Uncertain 15_91545211_C->T 15 91545211 91545211 C T snp 228.77 0/1 99 17 7 10 0.59 intronic rs3743448 VPS33B AR NM_018668 exon6 c.3075-68C>T 0.232228 0.4593 Uncertain 15_91546497_T->G 15 91546497 91546497 T G snp 615.77 1/1 45 20 0 20 1.0 intronic rs4244883 VPS33B AR NM_018668 exon7 c.4157+136T>G 0.766174 0.996 Uncertain 15_91548601_G->A 15 91548601 91548601 G A snp 1642.77 0/1 99 138 71 67 0.49 intronic rs3826033 VPS33B AR NM_018668 exon10 c.6405-8G>A 0.208067 0.5089 0.094828 0.1797 0.5036 Uncertain 15_91549512_GGGGCCCACAGCCTGGTATAAGCAG->- 15 91549512 91549536 GGGGCCCACAGCCTGGTATAAGCAG - indel 2455.73 0/1 99 14 3 11 0.79 intronic rs59910084 VPS33B AR NM_018668 exon13 c.7397-89_7397-65delGGGGCCCACAGCCTGGTATAAGCAG 0.386781 0.4613 Uncertain 15_91549763_T->C 15 91549763 91549763 T C snp 1299.77 0/1 99 96 45 51 0.53 intronic rs763616233 VPS33B AR NM_018668 exon13 c.7471+88T>C Uncertain 15_91549822_G->C 15 91549822 91549822 G C snp 867.77 0/1 99 64 34 30 0.47 intronic rs3826032 VPS33B AR NM_018668 exon14 c.7677-59G>C 0.23762 0.4573 0.107425 Uncertain 15_91550953_C->G 15 91550953 91550953 C G snp 1320.77 0/1 99 97 44 53 0.55 intronic rs3743447 VPS33B AR NM_018668 exon17 c.8895-146C>G 0.358027 0.4633 Uncertain 15_91557186_C->T 15 91557186 91557186 C T snp 500.77 0/1 99 35 19 16 0.46 intronic rs1972926 VPS33B AR NM_018668 exon19 c.14897+85C>T 0.348842 0.5635 Uncertain 15_91560078_T->C 15 91560078 91560078 T C snp 229.77 0/1 57 10 2 8 0.8 intronic rs873130 VPS33B AR NM_018668 exon21 c.17988-114T>C 0.23123 0.4276 Uncertain 15_91560367_G->T 15 91560367 91560367 G T snp 650.77 0/1 99 38 15 23 0.61 intronic rs11857433 VPS33B AR NM_018668 exon21 c.18050+113G>T 0.356629 0.5665 Uncertain 15_91561182_C->T 15 91561182 91561182 C T snp 787.77 0/1 99 67 35 32 0.48 intronic rs3743445 VPS33B AR NM_018668 exon22 c.18911+67C>T 0.261182 0.5377 Uncertain 15_91769465_G->A 15 91769465 91769465 G A snp 619.77 0/1 99 36 14 22 0.61 UTR5 rs2073967 SV2B AU 0.367612 0.1716 0.417488 0.2575 0.1767 Uncertain 15_91795203_C->G 15 91795203 91795203 C G snp 857.77 0/1 99 86 46 40 0.47 exonic rs17693706 SV2B AU synonymous SNV NM_014848 exon4 c.C606G p.L202L 0.0457268 0.0913 0.016703 0.0221 0.0985 Uncertain 15_91795811_A->G 15 91795811 91795811 A G snp 119.78 0/1 27 5 1 4 0.8 intronic rs80324630 SV2B AU NM_001167580 exon3 c.700+61A>G 0.0459265 0.0913 Uncertain 15_91810997_G->A 15 91810997 91810997 G A snp 214.77 0/1 99 19 10 9 0.47 intronic rs56175742 SV2B AU NM_001167580 exon7 c.15823+124G>A 0.383187 0.1349 Uncertain 15_91811464_C->A 15 91811464 91811464 C A snp 347.77 0/1 48 12 2 10 0.83 intronic rs73520053 SV2B AU NM_001167580 exon8 c.16620-206C>A 0.0601038 0.0883 Uncertain 15_91811749_G->A 15 91811749 91811749 G A snp 2649.77 0/1 99 236 130 106 0.45 exonic rs3743444 SV2B AU synonymous SNV NM_014848 exon10 c.G1287A p.V429V 0.139177 0.0893 0.144781 0.1112 0.0967 Uncertain 15_91825027_C->T 15 91825027 91825027 C T snp 581.77 0/1 99 49 22 27 0.55 exonic rs1117388 SV2B AU synonymous SNV NM_014848 exon11 c.C1443T p.D481D 0.333067 0.1419 0.356527 0.2276 0.1486 Uncertain 15_91825123_A->T 15 91825123 91825123 A T snp 232.77 0/1 97 10 3 7 0.7 intronic rs1117387 SV2B AU NM_001167580 exon9 c.30041+32A>T 0.300919 0.1399 0.322121 0.2162 0.1482 Uncertain 15_91827520_A->G 15 91827520 91827520 A G snp 215.77 0/1 99 18 10 8 0.44 intronic rs79830882 SV2B AU NM_001167580 exon10 c.32401+69A>G 0.077476 0.0893 Uncertain 15_92293742_G->A 15 92293742 92293742 G A snp 630.77 1/1 45 27 0 27 1.0 intergenic rs111208033 LOC101926928 AU 0.332668 0.5506 Uncertain 15_92397670_C->A 15 92397670 92397670 C A snp 846.77 0/1 99 69 31 38 0.55 intronic rs7173207 SLCO3A1 AU NM_001145044 exon1 c.180+352C>A 0.344249 0.1121 Uncertain 15_92459187_T->C 15 92459187 92459187 T C snp 1796.77 1/1 99 58 0 58 1.0 intronic rs4077721 SLCO3A1 AU NM_001145044 exon2 c.62084-35T>C 0.701078 0.9226 0.605413 0.6348 0.9162 Uncertain 15_92638327_C->G 15 92638327 92638327 C G snp 266.77 0/1 99 17 8 9 0.53 intronic rs201909358 SLCO3A1 AU NM_001145044 exon3 c.241071+118C>G 0.327276 0.4315 Uncertain 15_92638328_C->A 15 92638328 92638328 C A snp 260.77 0/1 99 17 8 9 0.53 intronic rs371059449 SLCO3A1 AU NM_001145044 exon3 c.241071+119C>A 0.327276 0.4315 Uncertain 15_92638329_T->G 15 92638329 92638329 T G snp 256.77 0/1 99 17 8 9 0.53 intronic rs199619830 SLCO3A1 AU NM_001145044 exon3 c.241071+120T>G 0.327276 0.4315 Uncertain 15_92638330_C->G 15 92638330 92638330 C G snp 266.77 0/1 99 17 8 9 0.53 intronic rs200913753 SLCO3A1 AU NM_001145044 exon3 c.241071+121C>G 0.327276 0.4315 Uncertain 15_92638333_T->- 15 92638333 92638333 T - indel 267.73 0/1 99 17 8 9 0.53 intronic rs67561474 SLCO3A1 AU NM_001145044 exon3 c.241071+124delT 0.327875 0.4315 Uncertain 15_92647645_G->C 15 92647645 92647645 G C snp 4320.77 1/1 99 157 0 157 1.0 exonic rs1517618 SLCO3A1 AU nonsynonymous SNV NM_001145044 exon4 c.G882C p.E294D 0.902556 0.9653 0.851062 0.8635 0.9629 0.33 T 0.000 P -0.999 T 0.0 T 0.008 T Pathogenic 15_92647834_A->G 15 92647834 92647834 A G snp 204.8 0/1 21 9 1 8 0.89 intronic rs917355 SLCO3A1 AU NM_001145044 exon4 c.250634+62A>G 0.715655 0.621 Uncertain 15_92663630_A->G 15 92663630 92663630 A G snp 1028.77 0/1 99 91 44 47 0.52 intronic rs6496893 SLCO3A1 AU NM_001145044 exon5 c.266556-64A>G 0.68151 0.3492 Uncertain 15_92669184_G->A 15 92669184 92669184 G A snp 638.77 0/1 99 40 17 23 0.57 intronic rs8033892 SLCO3A1 AU NM_001145044 exon6 c.272152-106G>A 0.430711 0.6349 Uncertain 15_92937268_G->T 15 92937268 92937268 G T snp 2052.77 0/1 99 147 58 89 0.61 UTR5 rs3743365 ST8SIA2 AU 0.576278 0.4375 0.747370 0.7354 0.5135 Uncertain 15_92937276_C->T 15 92937276 92937276 C T snp 2596.77 0/1 99 165 62 103 0.62 UTR5 rs3743364 ST8SIA2 AU 0.573283 0.4375 0.739947 0.7343 0.5043 Uncertain 15_92977670_T->G 15 92977670 92977670 T G snp 1066.77 1/1 84 30 0 30 1.0 intronic rs2242113 ST8SIA2 AU NM_006011 exon3 c.40311+65T>G 0.48762 0.6974 Uncertain 15_92981424_G->C 15 92981424 92981424 G C snp 54.74 1/1 6 2 0 2 1.0 intronic rs1017672 ST8SIA2 AU NM_006011 exon4 c.44288-158G>C 0.661342 0.6994 Uncertain 15_93198671_A->G 15 93198671 93198671 A G snp 2711.77 1/1 99 96 0 96 1.0 exonic rs501381 FAM174B AU synonymous SNV NM_207446 exon1 c.T219C p.S73S 0.967252 1 0.969040 0.9929 0.9997 Uncertain 15_93198679_TGGAGC->- 15 93198679 93198684 TGGAGC - indel 7106.73 1/1 99 90 0 90 1.0 exonic rs66488707 FAM174B AU nonframeshift deletion NM_207446 exon1 c.206_211del p.69_71del 0.97524 1 0.936369 0.9945 0.9995 ID=COSM1167521;OCCURENCE=1(NS),1(breast),1(skin),7(large_intestine) Uncertain 15_93198784_A->G 15 93198784 93198784 A G snp 1324.77 1/1 96 40 0 40 1.0 exonic rs2438194 FAM174B AU nonsynonymous SNV NM_207446 exon1 c.T106C p.W36R 0.967252 1 0.9978 1 0.64 T 0.000 P -1.012 T 0.0 T 0.0 T Pathogenic 15_93198935_G->C 15 93198935 93198935 G C snp 45.77 0/1 74 7 3 4 0.57 UTR5 rs200182901 FAM174B AU 0.00259585 0.0119 0.0043 0.0352 Uncertain 15_93306348_C->T 15 93306348 93306348 C T snp 296.77 0/1 99 17 6 11 0.65 intergenic rs8032507 FAM174B AU 0.628994 0.5645 Uncertain 15_93306644_G->A 15 93306644 93306644 G A snp 43.77 0/1 72 5 3 2 0.4 intergenic rs28493166 FAM174B AU 0.629792 0.5655 Uncertain 15_93306681_G->A 15 93306681 93306681 G A snp 73.77 0/1 99 12 6 6 0.5 intergenic rs12594947 FAM174B AU 0.547524 0.5665 Uncertain 15_93306688_G->A 15 93306688 93306688 G A snp 119.77 0/1 99 12 6 6 0.5 intergenic rs12910258 FAM174B AU 0.63119 0.5645 Uncertain 15_93482656_G->A 15 93482656 93482656 G A snp 54.74 1/1 6 2 0 2 1.0 intronic rs3743469 CHD2 AD NM_001042572 exon7 c.38340-151G>A 0.545128 0.8542 Uncertain 15_93485300_T->C 15 93485300 93485300 T C snp 305.77 0/1 51 12 2 10 0.83 intronic rs2272462 CHD2 AD NM_001042572 exon8 c.40718+115T>C 0.0101837 0.0506 Uncertain 15_93487854_G->C 15 93487854 93487854 G C snp 220.84 1/1 18 6 0 6 1.0 intronic rs1320819 CHD2 AD NM_001042572 exon10 c.43278+109G>C 0.5627 0.8552 Uncertain 15_93496874_C->T 15 93496874 93496874 C T snp 389.77 1/1 30 11 0 11 1.0 intronic rs1371390 CHD2 AD NM_001271 exon14 c.52336+71C>T 0.761182 0.9772 Uncertain 15_93510603_A->G 15 93510603 93510603 A G snp 1658.77 1/1 99 61 0 61 1.0 exonic rs4777755 CHD2 AD synonymous SNV NM_001271 exon17 c.A2049G p.E683E 0.826478 0.999 0.765589 0.8419 0.9973 Uncertain 15_93521604_A->G 15 93521604 93521604 A G snp 2616.77 1/1 99 92 0 92 1.0 exonic rs11074121 CHD2 AD synonymous SNV NM_001271 exon21 c.A2718G p.Q906Q 0.809105 0.999 0.747652 0.8353 0.9973 Uncertain 15_93521651_T->G 15 93521651 93521651 T G snp 1438.77 1/1 99 47 0 47 1.0 intronic rs11074122 CHD2 AD NM_001271 exon21 c.77146+38T>G 0.809704 0.999 0.742648 0.8353 0.9969 Uncertain 15_93522312_G->A 15 93522312 93522312 G A snp 306.78 1/1 24 16 0 16 1.0 intronic rs2272461 CHD2 AD NM_001271 exon22 c.77897-52G>A 0.646965 0.7698 Uncertain 15_93523998_T->G 15 93523998 93523998 T G snp 243.77 0/1 99 27 16 11 0.41 intronic rs77401998 CHD2 AD NM_001271 exon23 c.79577-46T>G 0.0259585 0.126 0.000232 0.0105 0.1262 Uncertain 15_93527843_G->A 15 93527843 93527843 G A snp 94.28 1/1 9 3 0 3 1.0 intronic rs2272458 CHD2 AD NM_001271 exon25 c.83263+113G>A 0.748003 0.994 Uncertain 15_93534452_C->T 15 93534452 93534452 C T snp 139.03 1/1 12 4 0 4 1.0 intronic rs3736619 CHD2 AD NM_001271 exon27 c.90238-253C>T 0.447284 0.8046 Uncertain 15_93543956_G->A 15 93543956 93543956 G A snp 434.77 1/1 33 12 0 12 1.0 intronic rs12591124 CHD2 AD NM_001271 exon32 c.99403+86G>A 0.460463 0.8065 Uncertain 15_93552330_C->T 15 93552330 93552330 C T snp 1711.77 1/1 99 59 0 59 1.0 intronic rs12915582 CHD2 AD NM_001271 exon35 c.107907-44C>T 0.813299 0.999 0.752387 0.8369 0.9971 Uncertain 15_93552656_C->T 15 93552656 93552656 C T snp 99.28 1/1 9 3 0 3 1.0 intronic rs12900461 CHD2 AD NM_001271 exon35 c.108086+103C>T 0.815695 0.999 Uncertain 15_93563661_G->C 15 93563661 93563661 G C snp 165.9 1/1 15 5 0 5 1.0 intronic rs964034 CHD2 AD NM_001271 exon38 c.119021+173G>C 0.833466 0.9514 Uncertain 15_93567526_G->A 15 93567526 93567526 G A snp 1542.77 1/1 99 50 0 50 1.0 intronic rs28558199 CHD2 AD NM_001271 exon39 c.123134-75G>A 0.5002 0.8641 Uncertain 15_93588264_G->C 15 93588264 93588264 G C snp 2173.77 1/1 99 69 0 69 1.0 exonic rs4299103 RGMA AU synonymous SNV NM_001166283 exon4 c.C1341G p.L447L 0.47504 0.7073 0.406718 0.5305 0.7296 Uncertain 15_93588336_A->C 15 93588336 93588336 A C snp 5000.77 1/1 99 183 1 182 0.99 exonic rs4238485 RGMA AU nonsynonymous SNV NM_001166283 exon4 c.T1269G p.D423E 1 1 1.0000 0.9998 1 T 0.000 P -0.966 T 0.0 T 0.0 T Pathogenic 15_93595855_T->C 15 93595855 93595855 T C snp 634.77 1/1 48 20 0 20 1.0 intronic rs1997382 RGMA AU NM_001166287 exon2 c.7510+118T>C 0.654353 0.9187 Uncertain 15_93609460_A->T 15 93609460 93609460 A T snp 2486.77 1/1 99 91 0 91 1.0 intronic rs11074135 RGMA AU NM_001166287 exon3 c.27917-6684A>T 0.475639 0.8185 0.4247 0.8074 Uncertain 15_93609617_A->G 15 93609617 93609617 A G snp 2080.77 1/1 99 78 1 77 0.99 intronic rs4778090 RGMA AU NM_001166287 exon3 c.27917-6527A>G 0.73742 0.9137 Uncertain 15_93616283_-->AGG 15 93616283 93616283 - AGG indel 3222.65 1/1 99 60 0 60 1.0 intronic rs112633977 RGMA AU NM_001166287 exon3 c.28033+23insAGG 0.747404 0.9544 0.6862 0.9555 Uncertain 15_93616933_C->G 15 93616933 93616933 C G snp 7222.77 1/1 99 249 1 248 1.0 intronic rs55816698 RGMA AU NM_001166288 exon4 c.28712-6C>G 0.592851 0.9534 0.5905 0.9551 Uncertain 15_93616975_A->G 15 93616975 93616975 A G snp 5830.77 1/1 99 214 1 213 1.0 exonic rs4598860 RGMA AU nonsynonymous SNV NM_001166283 exon1 c.T11C p.L4P 0.608626 0.9544 0.5962 0.9599 0.11 T 0.000 P -0.985 T 0.0 T 0.0 T Pathogenic 15_93632123_T->C 15 93632123 93632123 T C snp 623.77 0/1 99 57 28 29 0.51 intergenic rs8038770 RGMA AU 0.491813 0.6657 0.292182 0.4800 0.6591 Uncertain 15_94304132_C->T 15 94304132 94304132 C T snp 1149.77 0/1 99 72 30 42 0.58 intergenic rs12905790 RGMA AU 0.591054 0.4563 0.6163 0.4583 Uncertain 15_94304189_T->C 15 94304189 94304189 T C snp 2123.77 0/1 99 171 87 84 0.49 intergenic rs12910750 RGMA AU 0.591454 0.4573 0.6139 0.4490 Uncertain 15_94841389_T->G 15 94841389 94841389 T G snp 398.96 1/1 5 15 3 12 0.8 upstream rs78144941 MCTP2 AU 0.0798722 0.2292 Uncertain 15_94841420_T->C 15 94841420 94841420 T C snp 850.77 1/1 63 35 1 34 0.97 upstream rs75426544 MCTP2 AU 0.174321 0.2589 Uncertain 15_94841430_G->A 15 94841430 94841430 G A snp 1150.77 1/1 87 41 0 41 1.0 UTR5 rs79161311 MCTP2 AU 0.17492 0.2599 Uncertain 15_94841440_-->GTT 15 94841440 94841440 - GTT indel 2576.73 1/1 99 44 0 44 1.0 UTR5 rs3041678 MCTP2 AU 0.194089 0.2589 Uncertain 15_94841691_G->A 15 94841691 94841691 G A snp 2863.77 1/1 99 98 0 98 1.0 exonic rs61737195 MCTP2 AU nonsynonymous SNV NM_018349 exon1 c.G197A p.R66Q 0.172524 0.2579 0.101155 0.1561 0.2739 0.53 T 0.000 P -1.081 T 0.709 T 0.08 P Pathogenic 15_94842034_C->T 15 94842034 94842034 C T snp 281.78 1/1 24 8 0 8 1.0 intronic rs117268644 MCTP2 AU NM_001159643 exon1 c.465+75C>T 0.174521 0.2599 Uncertain 15_94842037_A->G 15 94842037 94842037 A G snp 214.84 1/1 18 6 0 6 1.0 intronic rs9806303 MCTP2 AU NM_001159643 exon1 c.465+78A>G 0.882987 0.9871 Uncertain 15_94857347_T->A 15 94857347 94857347 T A snp 471.77 1/1 36 16 0 16 1.0 intronic rs294553 MCTP2 AU NM_001159643 exon2 c.16016-163T>A 0.886382 0.9881 Uncertain 15_94857835_G->T 15 94857835 94857835 G T snp 40.77 0/1 69 5 3 2 0.4 intronic rs17712466 MCTP2 AU NM_001159643 exon2 c.16079+262G>T 0.342851 0.4722 Uncertain 15_94857890_G->A 15 94857890 94857890 G A snp 952.77 1/1 69 30 0 30 1.0 intronic rs294552 MCTP2 AU NM_001159643 exon2 c.16079+317G>A 0.835863 0.9881 Uncertain 15_94858647_C->T 15 94858647 94858647 C T snp 520.77 1/1 42 14 0 14 1.0 intronic rs1671830 MCTP2 AU NM_001159643 exon3 c.17263-110C>T 0.852835 0.9871 Uncertain 15_94858686_G->A 15 94858686 94858686 G A snp 525.77 0/1 99 37 20 17 0.46 intronic rs1655455 MCTP2 AU NM_001159643 exon3 c.17263-71G>A 0.478435 0.5089 Uncertain 15_94858889_T->G 15 94858889 94858889 T G snp 2137.77 0/1 99 180 86 94 0.52 intronic rs12101974 MCTP2 AU NM_001159643 exon3 c.17372+23T>G 0.299121 0.373 0.253349 0.3328 0.3954 Uncertain 15_94858980_G->A 15 94858980 94858980 G A snp 654.77 0/1 99 52 28 24 0.46 intronic rs8024196 MCTP2 AU NM_001159643 exon3 c.17372+114G>A 0.349441 0.372 Uncertain 15_94859051_C->T 15 94859051 94859051 C T snp 267.77 0/1 99 16 6 10 0.63 intronic rs294550 MCTP2 AU NM_001159643 exon3 c.17372+185C>T 0.506589 0.6131 Uncertain 15_94859068_T->C 15 94859068 94859068 T C snp 191.77 0/1 99 12 6 6 0.5 intronic rs294549 MCTP2 AU NM_001159643 exon3 c.17372+202T>C 0.507788 0.6151 Uncertain 15_94882509_C->T 15 94882509 94882509 C T snp 102.77 0/1 99 14 10 4 0.29 intronic rs4984382 MCTP2 AU NM_001159643 exon4 c.41024-9C>T 0.461062 0.3343 0.448499 0.4461 0.3500 Uncertain 15_94883599_T->C 15 94883599 94883599 T C snp 507.77 0/1 99 47 27 20 0.43 intronic rs10152496 MCTP2 AU NM_001159643 exon5 c.42010+95T>C 0.482029 0.3363 Uncertain 15_94884108_G->C 15 94884108 94884108 G C snp 1423.77 0/1 99 110 55 55 0.5 exonic rs8025851 MCTP2 AU synonymous SNV NM_018349 exon6 c.G924C p.V308V 0.48123 0.3383 0.490993 0.4811 0.3508 Uncertain 15_94899308_A->G 15 94899308 94899308 A G snp 1104.77 0/1 99 105 54 51 0.49 intronic rs2117216 MCTP2 AU NM_001159643 exon8 c.57871-57A>G 0.207867 0.3016 Uncertain 15_94899354_T->G 15 94899354 94899354 T G snp 1645.77 0/1 99 155 82 73 0.47 intronic rs2164019 MCTP2 AU NM_001159643 exon8 c.57871-11T>G 0.209265 0.3026 0.180370 0.2245 0.3243 Uncertain 15_94899551_A->G 15 94899551 94899551 A G snp 549.77 0/1 99 32 14 18 0.56 intronic rs3784659 MCTP2 AU NM_001159643 exon8 c.58036+21A>G 0.207867 0.3016 0.178681 0.2246 0.3279 Uncertain 15_94899586_A->C 15 94899586 94899586 A C snp 93.28 1/1 9 3 0 3 1.0 intronic rs3784658 MCTP2 AU NM_001159643 exon8 c.58036+56A>C 0.207867 0.3016 Uncertain 15_94927494_T->- 15 94927494 94927494 T - indel 845.73 1/1 69 26 0 26 1.0 intronic rs3217405 MCTP2 AU NM_001159644 exon5 c.25577+141delT 0.68111 0.7361 Uncertain 15_94945324_G->A 15 94945324 94945324 G A snp 743.77 0/1 99 48 21 27 0.56 intronic rs6497203 MCTP2 AU NM_001159644 exon9 c.43472+76G>A 0.426518 0.4573 Uncertain 15_94945704_A->G 15 94945704 94945704 A G snp 1880.77 0/1 99 227 145 82 0.36 intronic rs7180682 MCTP2 AU NM_001159644 exon10 c.43938-10A>G 0.240815 0.2887 0.305714 0.3065 0.2846 Uncertain 15_94945719_G->T 15 94945719 94945719 G T snp 2137.77 0/1 99 250 154 96 0.38 intronic rs7178698 MCTP2 AU NM_001159644 exon10 c.43938+5G>T 0.620407 0.5089 0.731209 0.7175 0.5096 0.65 T 0.0 P -0.979 T 0.0 T 0.0 T Uncertain 15_95001206_T->C 15 95001206 95001206 T C snp 44.74 1/1 6 2 0 2 1.0 intronic rs2304294 MCTP2 AU NM_001159643 exon17 c.159871-159T>C 0.146765 0.2272 Uncertain 15_95019835_AGAT->- 15 95019835 95019838 AGAT - indel 487.73 0/1 99 16 5 11 0.69 intronic rs10574224 MCTP2 AU NM_001159643 exon19 c.178430-89_178430-86delAGAT Uncertain 15_96876611_T->A 15 96876611 96876611 T A snp 435.77 1/1 33 17 0 17 1.0 intronic rs7173047 NR2F2 AD NM_001145155 exon2 c.7766-693T>A 0.40016 0.5635 Uncertain 15_96880511_TTC->- 15 96880511 96880513 TTC - indel 1236.73 1/1 75 25 0 25 1.0 intronic rs3833035 NR2F2 AD NM_001145156 exon3 c.3255-65_3255-63delTTC 0.371406 0.5754 Uncertain 15_97326748_G->T 15 97326748 97326748 G T snp 208.84 1/1 18 6 0 6 1.0 UTR5 rs12911590 SPATA8 AU 0.57528 0.5337 Uncertain 15_97328518_G->C 15 97328518 97328518 G C snp 40.77 0/1 69 5 3 2 0.4 UTR3 rs28479969 SPATA8 AU 0.279153 0.1558 Uncertain 15_97970963_T->C 15 97970963 97970963 T C snp 1472.77 0/1 99 133 69 64 0.48 ncRNA_exonic rs4128671 LOC101927286 AU 0.292332 0.2768 0.3446 0.2197 Uncertain 15_98301609_A->G 15 98301609 98301609 A G snp 99.28 1/1 9 3 0 3 1.0 ncRNA_intronic rs2048116 LINC00923 AU 0.976238 0.999 Uncertain 15_98301845_C->T 15 98301845 98301845 C T snp 1834.77 1/1 99 67 0 67 1.0 ncRNA_exonic rs2048115 LINC00923 AU 0.976038 0.999 0.9797 1 Uncertain 15_98302003_AAC->- 15 98302003 98302005 AAC - indel 324.8 1/1 18 7 0 7 1.0 ncRNA_intronic rs143322276 LINC00923 AU 0.976038 0.999 Uncertain 15_98504100_G->C 15 98504100 98504100 G C snp 1674.77 1/1 99 58 0 58 1.0 exonic rs4965046 ARRDC4 AU synonymous SNV NM_183376 exon1 c.G9C p.G3G 0.76238 0.879 0.769333 0.8395 0.8831 Uncertain 15_98504322_C->T 15 98504322 98504322 C T snp 359.77 0/1 99 44 26 18 0.41 exonic rs112100339 ARRDC4 AU synonymous SNV NM_183376 exon1 c.C231T p.A77A 0.16873 0.0724 0.2866 0.0893 Uncertain 15_98504326_A->G 15 98504326 98504326 A G snp 1138.77 1/1 81 42 0 42 1.0 exonic rs12101554 ARRDC4 AU nonsynonymous SNV NM_183376 exon1 c.A235G p.T79A 0.762181 0.88 0.739440 0.8751 0.9 1 T 0.001 P -0.961 T 0.0 T 0.0 T Pathogenic 15_98512623_T->- 15 98512623 98512623 T - indel 2293.73 1/1 99 86 3 83 0.97 intronic rs5814833 ARRDC4 AU NM_183376 exon5 c.8518+14delT 0.621406 0.5526 0.607925 0.5965 0.5441 Uncertain 15_98513087_T->- 15 98513087 98513087 T - indel 80.73 0/1 88 16 7 9 0.56 intronic rs201375946 ARRDC4 AU NM_183376 exon6 c.9021-25delT 0.491014 0.5585 0.3576 0.3385 Uncertain 15_98513845_T->C 15 98513845 98513845 T C snp 2969.77 1/1 99 115 0 115 1.0 exonic rs2130882 ARRDC4 AU nonsynonymous SNV NM_183376 exon7 c.T1072C p.S358P 0.419129 0.5486 0.375135 0.5021 0.5455 0.49 T 0.998 P -0.998 T 0.998 D 0.878 D Pathogenic 15_98514282_A->G 15 98514282 98514282 A G snp 4364.77 1/1 99 146 0 146 1.0 intronic rs62023730 ARRDC4 AU NM_183376 exon8 c.10269-78A>G 0.495807 0.5486 Uncertain 15_98514489_A->G 15 98514489 98514489 A G snp 3768.77 1/1 99 129 0 129 1.0 UTR3 rs3803385 ARRDC4 AU 0.495807 0.5486 0.478462 Uncertain 15_98984225_A->G 15 98984225 98984225 A G snp 146.77 0/1 99 18 11 7 0.39 intronic rs62024910 FAM169B AU NM_182562 exon2 c.1440-74A>G 0.0996406 0.1498 Uncertain 15_98984447_G->T 15 98984447 98984447 G T snp 187.77 0/1 99 22 14 8 0.36 intronic rs72764391 FAM169B AU NM_182562 exon2 c.1532+56G>T 0.0980431 0.1488 Uncertain 15_98984534_T->C 15 98984534 98984534 T C snp 107.78 0/1 25 5 1 4 0.8 intronic rs112229817 FAM169B AU NM_182562 exon2 c.1532+143T>C Uncertain 15_98995052_-->T 15 98995052 98995052 - T indel 5089.73 1/1 99 131 0 131 1.0 splicing rs56374714 FAM169B AU NM_182562 exon3 c.12197-4insT 0.998003 0.998 0.996208 0.9973 0.9999 Pathogenic 15_98995081_A->G 15 98995081 98995081 A G snp 4113.77 1/1 99 156 0 156 1.0 exonic rs12101356 FAM169B AU nonsynonymous SNV NM_182562 exon5 c.T343C p.S115P 0.914936 0.996 0.889033 0.9328 0.9956 1 T 0.000 P -0.971 T 0.0 T 0.0 T Pathogenic 15_99023968_T->G 15 99023968 99023968 T G snp 3658.77 1/1 99 132 0 132 1.0 exonic rs4528551 FAM169B AU synonymous SNV NM_182562 exon4 c.A45C p.L15L 0.336861 0.3413 0.323658 0.3544 0.3480 Uncertain 15_99192755_TTTTTTTTT->- 15 99192755 99192763 TTTTTTTTT - indel 1479.73 0/1 99 21 2 19 0.9 ncRNA_exonic rs544674838 IRAIN AU 0.954473 0.9633 Uncertain 15_99251356_C->T 15 99251356 99251356 C T snp 187.77 0/1 99 24 13 11 0.46 intronic rs7174918 IGF1R AR,AD NM_000875 exon2 c.58526+20C>T 0.233427 0.2341 0.264176 0.2907 0.2265 Uncertain 15_99442764_C->T 15 99442764 99442764 C T snp 1396.77 0/1 99 101 41 60 0.59 exonic rs754603546 IGF1R AR,AD synonymous SNV NM_000875 exon5 c.C1161T p.Y387Y 5.765e-05 0.0007 Uncertain 15_99454363_A->G 15 99454363 99454363 A G snp 43.77 0/1 72 4 2 2 0.5 intronic rs2715415 IGF1R AR,AD NM_000875 exon7 c.261733-180A>G 0.572484 0.4484 Uncertain 15_99456253_T->C 15 99456253 99456253 T C snp 1073.77 0/1 99 87 39 48 0.55 intronic rs2272037 IGF1R AR,AD NM_000875 exon8 c.263462-19T>C 0.511182 0.6746 0.469433 0.5775 0.6851 Uncertain 15_99456553_G->A 15 99456553 99456553 G A snp 275.77 0/1 99 32 19 13 0.41 intronic rs951715 IGF1R AR,AD NM_000875 exon8 c.263701+42G>A 0.631589 0.5159 0.649061 0.6396 0.4998 Uncertain 15_99465473_C->T 15 99465473 99465473 C T snp 840.77 0/1 99 105 69 36 0.34 exonic rs3743262 IGF1R AR,AD synonymous SNV NM_000875 exon11 c.C2298T p.T766T 0.134185 0.3661 0.034570 0.0901 0.3744 ID=CM105034;DIS=Pacreatic cancer, clinical outcome, association with;TAG=DP;PUB=20416304 DP Uncertain 15_99467934_A->C 15 99467934 99467934 A C snp 161.77 0/1 99 29 20 9 0.31 intronic rs1464430 IGF1R AR,AD NM_000875 exon13 c.275103+21A>C 0.402756 0.2629 0.422390 0.3443 0.2870 Uncertain 15_99467943_GT->- 15 99467943 99467944 GT - indel 724.73 0/1 99 25 8 17 0.68 intronic rs3841650 IGF1R AR,AD NM_000875 exon13 c.275103+30_275103+31delGT 0.206669 0.2183 0.142332 0.1510 0.2346 ID=COSN229973;OCCURENCE=1(NS) Uncertain 15_99472734_T->C 15 99472734 99472734 T C snp 1322.77 0/1 99 123 62 61 0.5 intronic rs4486868 IGF1R AR,AD NM_000875 exon14 c.279976-52T>C 0.33726 0.3532 Uncertain 15_99473606_A->G 15 99473606 99473606 A G snp 115.77 0/1 99 10 5 5 0.5 intronic rs33982004 IGF1R AR,AD NM_000875 exon15 c.280724+72A>G 0.230431 0.3909 Uncertain 15_99477911_T->G 15 99477911 99477911 T G snp 967.77 1/1 69 33 0 33 1.0 intronic rs2715449 IGF1R AR,AD NM_000875 exon16 c.285242-141T>G 0.975439 1 Uncertain 15_99478225_G->A 15 99478225 99478225 G A snp 690.77 0/1 99 69 40 29 0.42 exonic rs2229765 IGF1R AR,AD synonymous SNV NM_000875 exon16 c.G3129A p.E1043E 0.335663 0.3462 0.402679 0.3972 0.3527 ID=CM031698;DIS=Increased longevity;TAG=FP;PUB=12843179 FP Uncertain 15_99478493_T->C 15 99478493 99478493 T C snp 478.77 1/1 36 12 0 12 1.0 intronic rs10400894 IGF1R AR,AD NM_000875 exon17 c.285734-51T>C 0.988019 1 Uncertain 15_99478505_-->C 15 99478505 99478505 - C indel 572.73 1/1 45 15 0 15 1.0 intronic rs34389972 IGF1R AR,AD NM_000875 exon17 c.285734-39insC 0.988019 1 0.985787 0.9946 1 Uncertain 15_99478713_T->C 15 99478713 99478713 T C snp 2081.77 0/1 99 177 80 97 0.55 intronic rs2293117 IGF1R AR,AD NM_000875 exon17 c.285845+58T>C 0.354832 0.3492 Uncertain 15_99485931_T->A 15 99485931 99485931 T A snp 46.78 0/1 27 3 1 2 0.67 intronic rs41497346 IGF1R AR,AD NM_000875 exon19 c.293341-220T>A 0.279952 0.3264 Uncertain 15_99492045_G->A 15 99492045 99492045 G A snp 980.77 0/1 99 69 26 43 0.62 intronic rs2684789 IGF1R AR,AD NM_000875 exon20 c.299127+108G>A 0.604433 0.6627 Uncertain 15_99511793_C->G 15 99511793 99511793 C G snp 1375.77 0/1 99 143 80 63 0.44 exonic rs1521484 PGPEP1L AU nonsynonymous SNV NM_001102612 exon5 c.G505C p.E169Q 0.443291 0.4841 0.419015 0.5122 0.4890 0.46 T 0.000 P -0.964 T 0.682 T 0.322 P Pathogenic 15_99511804_-->C 15 99511804 99511804 - C indel 1880.73 0/1 99 139 82 57 0.41 exonic rs398043625 PGPEP1L AU frameshift insertion NM_001102612 exon5 c.493dupG p.V165fs 0.442692 0.4841 0.423255 0.5109 0.4897 ID=COSM966819;OCCURENCE=1(endometrium) Pathogenic 15_99514424_GGGGGGG->- 15 99514424 99514430 GGGGGGG - indel 1351.73 0/1 92 31 3 28 0.9 intronic rs199745395 PGPEP1L AU NM_001102612 exon3 c.2681+37_2681+43delGGGGGGG 0.996006 1 0.6403 0.7289 Uncertain 15_99544315_A->G 15 99544315 99544315 A G snp 202.84 1/1 18 6 0 6 1.0 intronic PGPEP1L AU NM_001102612 exon4 c.32709-100A>G 0.940495 0.9365 Uncertain 15_99544418_C->T 15 99544418 99544418 C T snp 1021.77 0/1 99 72 35 37 0.51 exonic PGPEP1L AU nonsynonymous SNV NM_001102612 exon2 c.G19A p.V7M 0.154353 0.3502 0.1332 0.4015 0.09 T 0.0 P -0.928 T 0.002 T 0.0 T Pathogenic 15_99544429_G->A 15 99544429 99544429 G A snp 1062.77 0/1 99 93 47 46 0.49 exonic PGPEP1L AU nonsynonymous SNV NM_001102612 exon2 c.C8T p.P3L 0.581669 0.5605 0.6767 0.5078 0 D 0.0 P -0.976 T 0.999 D 0.913 D Pathogenic 15_99645813_G->A 15 99645813 99645813 G A snp 52.77 0/1 81 24 20 4 0.17 exonic SYNM AU unknown 0.432508 0.3849 0.4543 0.3333 Uncertain 15_99645862_A->C 15 99645862 99645862 A C snp 105.77 0/1 99 27 22 5 0.19 exonic SYNM AU unknown 0.432708 0.3889 0.4054 0.375 Uncertain 15_99646107_-->G 15 99646107 99646107 - G indel 1520.73 1/1 99 35 0 35 1.0 exonic rs60530833 SYNM AU unknown 1 1 0.999008 1 1 ID=COSM1375608,COSM1375607;OCCURENCE=3(large_intestine) Uncertain 15_99653666_C->T 15 99653666 99653666 C T snp 951.77 1/1 69 30 0 30 1.0 intronic SYNM AU NM_145728 exon2 c.8390-129C>T 0.386382 0.4008 Uncertain 15_99653800_T->C 15 99653800 99653800 T C snp 4843.77 1/1 99 179 2 177 0.99 exonic SYNM AU unknown 0.574681 0.6944 0.545064 0.5891 0.7094 0.13 T 0.000 P -0.952 T 0.056 T 0.141 T Uncertain 15_99666979_G->A 15 99666979 99666979 G A snp 2567.77 0/1 99 245 132 113 0.46 exonic SYNM AU unknown 0.0752796 0.0466 0.080384 0.1342 0.1004 1 T 0.0 P -0.996 T 0.0 T 0.0 T Uncertain 15_99667524_G->C 15 99667524 99667524 G C snp 746.77 0/1 99 69 36 33 0.48 intronic SYNM AU NM_145728 exon3 c.21592+527G>C 0.244209 0.0962 Uncertain 15_99670518_T->C 15 99670518 99670518 T C snp 3382.77 0/1 99 249 117 132 0.53 exonic SYNM AU unknown 0.273562 0.0982 0.303698 0.2450 0.0798 Uncertain 15_99670989_T->C 15 99670989 99670989 T C snp 4807.77 1/1 99 169 0 169 1.0 exonic SYNM AU unknown 0.792732 0.7103 0.800268 0.7512 0.7291 Uncertain 15_99671760_T->C 15 99671760 99671760 T C snp 3986.77 1/1 99 134 0 134 1.0 exonic SYNM AU unknown 0.774161 0.7272 0.781581 0.7473 0.7386 Uncertain 15_99672722_A->G 15 99672722 99672722 A G snp 2104.77 0/1 99 148 69 79 0.53 exonic SYNM AU unknown 0.483626 0.628 0.432129 0.4947 0.6622 1 T 0.000 P -0.964 T Uncertain 15_99678257_G->A 15 99678257 99678257 G A snp 599.77 0/1 99 74 47 27 0.36 exonic TTC23 AU synonymous SNV NM_001288616 exon12 c.C1302T p.D434D 0.144569 0.0486 0.147059 0.0949 0.0402 0.000 P -0.979 T Likely benign 15_99679490_AGAT->- 15 99679490 99679493 AGAT - indel 3493.73 0/1 99 112 50 62 0.55 intronic TTC23 AU NM_001288616 exon2 c.1307-31_1307-28delAGAT 0.263978 0.0992 0.304202 0.2726 0.0948 Uncertain 15_99679830_A->G 15 99679830 99679830 A G snp 1910.77 0/1 99 129 59 70 0.54 intronic TTC23 AU NM_001288616 exon2 c.1390+226A>G 0.277955 0.0992 0.2477 0.1009 Uncertain 15_99701857_A->G 15 99701857 99701857 A G snp 1777.77 0/1 99 133 56 77 0.58 intronic rs3803472 TTC23 AU NM_001288616 exon4 c.23730-87A>G 0.42512 0.4077 Uncertain 15_99715352_A->G 15 99715352 99715352 A G snp 5255.77 1/1 99 186 0 186 1.0 exonic rs2602016 TTC23 AU synonymous SNV NM_001288616 exon8 c.T768C p.L256L 0.855831 0.9415 0.815676 0.7947 0.9341 Uncertain 15_99798934_G->A 15 99798934 99798934 G A snp 1364.77 0/1 99 106 53 53 0.5 ncRNA_exonic rs7162949 HSP90B2P AU 0.641174 0.6746 Uncertain 15_99799474_C->T 15 99799474 99799474 C T snp 3104.77 0/1 99 248 135 113 0.46 ncRNA_exonic rs62023769 HSP90B2P AU 0.0754792 0.1022 Uncertain 15_99799750_T->C 15 99799750 99799750 T C snp 5743.77 1/1 99 197 0 197 1.0 ncRNA_exonic rs1976589 HSP90B2P AU 0.817692 0.7907 Uncertain 15_99901749_C->G 15 99901749 99901749 C G snp 229.77 0/1 99 23 10 13 0.57 intronic rs3817147 LRRC28 AU NM_001284400 exon8 c.105554+33C>G 0.394569 0.378 0.364721 0.3224 0.3790 Uncertain 15_99903547_G->A 15 99903547 99903547 G A snp 267.77 0/1 85 11 3 8 0.73 intronic rs62023858 LRRC28 AU NM_144598 exon9 c.107308+77G>A 0.10024 0.0645 Uncertain 15_99926055_A->G 15 99926055 99926055 A G snp 422.77 0/1 99 31 17 14 0.45 intronic rs768159 LRRC28 AU NM_001284400 exon9 c.130072-179A>G 0.0992412 0.0665 Uncertain 15_99926440_T->C 15 99926440 99926440 T C snp 119.78 0/1 27 5 1 4 0.8 UTR3 rs2289558 LRRC28 AU 0.128594 0.0655 Uncertain 15_100214935_T->C 15 100214935 100214935 T C snp 150.77 0/1 99 10 5 5 0.5 intronic rs2570930 MEF2A AD NM_001130928 exon3 c.41493+118T>C 0.221246 0.2748 Uncertain 15_100230908_T->C 15 100230908 100230908 T C snp 267.8 1/1 21 8 0 8 1.0 intronic rs325385 MEF2A AD NM_001130928 exon5 c.57309+275T>C 0.884585 1 0.9925 1 Uncertain 15_100243488_T->- 15 100243488 100243488 T - indel 3085.73 1/1 99 85 0 85 1.0 intronic rs34131461 MEF2A AD NM_001130927 exon7 c.70242-78delT 0.607827 0.7103 0.625840 Uncertain 15_100246834_T->G 15 100246834 100246834 T G snp 813.77 1/1 63 22 0 22 1.0 intronic rs325409 MEF2A AD NM_001130928 exon6 c.73609-99T>G 0.61242 0.7103 Uncertain 15_100246936_T->C 15 100246936 100246936 T C snp 4397.77 1/1 99 159 0 159 1.0 exonic rs325408 MEF2A AD synonymous SNV NM_005587 exon9 c.T867C p.N289N 0.61242 0.7103 0.640635 0.7471 0.7319 Uncertain 15_100246942_G->A 15 100246942 100246942 G A snp 4924.77 1/1 99 175 0 175 1.0 exonic rs325407 MEF2A AD synonymous SNV NM_005587 exon9 c.G873A p.Q291Q 0.886781 1 0.885013 0.9669 0.9999 Uncertain 15_100251015_C->G 15 100251015 100251015 C G snp 1821.77 0/1 99 130 52 78 0.6 intronic rs325403 MEF2A AD NM_001130928 exon7 c.77641+50C>G 0.547324 0.6796 0.553680 0.6125 0.6839 Uncertain 15_100252710_CAGCAG->- 15 100252710 100252715 CAGCAG - indel 4411.73 0/1 99 195 70 125 0.64 exonic rs3138597 MEF2A AD nonframeshift deletion NM_005587 exon11 c.1234_1239del p.412_413del 0.2791 0.2705 ID=COSM1477904,COSM1477903,COSM1477902;OCCURENCE=9(breast) Uncertain 15_100252805_G->T 15 100252805 100252805 G T snp 1238.77 0/1 99 115 64 51 0.44 exonic rs325400 MEF2A AD synonymous SNV NM_005587 exon11 c.G1329T p.G443G 0.349241 0.2976 0.388879 0.4953 0.3312 Uncertain 15_100256618_A->C 15 100256618 100256618 A C snp 1552.77 0/1 99 112 48 64 0.57 UTR3 rs325380 MEF2A AD 0.353834 0.3115 0.5853 0.3316 0 D 1.0 P -0.894 T Uncertain 15_100269309_T->G 15 100269309 100269309 T G snp 3253.77 1/1 99 103 1 102 0.99 UTR3 rs6598263 LYSMD4 AU 0.962061 1 0.955943 0.9885 0.9998 Uncertain 15_100269613_C->T 15 100269613 100269613 C T snp 3627.77 0/1 99 250 115 135 0.54 exonic rs11852387 LYSMD4 AU synonymous SNV NM_001284420 exon2 c.G423A p.P141P 0.0894569 0.0228 0.097801 0.0519 0.0334 Uncertain 15_100269680_G->C 15 100269680 100269680 G C snp 2510.77 0/1 99 250 144 106 0.42 exonic rs2061007 LYSMD4 AU nonsynonymous SNV NM_001284420 exon2 c.C356G p.A119G 0.38119 0.374 0.455943 0.5391 0.4053 0.21 T 0.078 P -0.937 T 0.996 D 0.852 D Pathogenic 15_100269796_A->G 15 100269796 100269796 A G snp 5666.77 1/1 99 196 0 196 1.0 exonic rs6598264 LYSMD4 AU synonymous SNV NM_001284420 exon2 c.T240C p.S80S 0.965455 1 0.959634 0.9899 0.9999 Uncertain 15_100330730_C->T 15 100330730 100330730 C T snp 35.77 0/1 64 11 8 3 0.27 ncRNA_exonic rs79063960 DNM1P46 AU 0.251597 0.4415 0.2564 0.4481 Uncertain 15_100331253_G->A 15 100331253 100331253 G A snp 1559.77 1/1 99 59 0 59 1.0 ncRNA_exonic rs1060457 DNM1P46 AU 0.623802 0.6786 0.623474 0.5896 0.6203 Uncertain 15_100331282_C->T 15 100331282 100331282 C T snp 495.77 0/1 99 70 45 25 0.36 ncRNA_exonic rs1060456 DNM1P46 AU 0.370008 0.499 0.295082 0.3264 0.4370 Uncertain 15_100331752_C->A 15 100331752 100331752 C A snp 521.77 0/1 99 38 18 20 0.53 ncRNA_exonic rs746071 DNM1P46 AU 0.183307 0.3542 0.147541 0.1954 0.2935 Uncertain 15_100331800_G->A 15 100331800 100331800 G A snp 591.77 0/1 99 45 23 22 0.49 ncRNA_exonic rs2004045 DNM1P46 AU 0.259185 0.4425 0.196024 0.2314 0.3928 Uncertain 15_100331819_A->G 15 100331819 100331819 A G snp 529.77 0/1 99 43 21 22 0.51 ncRNA_exonic rs2958994 DNM1P46 AU 0.704872 0.7183 0.718696 0.6913 0.7003 Uncertain 15_100331961_A->G 15 100331961 100331961 A G snp 1177.77 0/1 99 81 37 44 0.54 ncRNA_exonic rs1809156 DNM1P46 AU 0.48742 0.5476 0.418730 0.4341 0.5232 Uncertain 15_100332215_G->A 15 100332215 100332215 G A snp 1212.77 0/1 99 97 50 47 0.48 ncRNA_exonic rs76943657 DNM1P46 AU 0.183706 0.3542 0.143704 0.1974 0.2972 Uncertain 15_100332743_A->G 15 100332743 100332743 A G snp 949.77 0/1 99 95 53 42 0.44 ncRNA_exonic rs8039516 DNM1P46 AU 0.279553 0.381 0.2153 0.3181 Uncertain 15_100332799_A->C 15 100332799 100332799 A C snp 1126.77 0/1 99 106 50 56 0.53 ncRNA_exonic rs11639102 DNM1P46 AU 0.5125 0.5199 Uncertain 15_100332807_C->T 15 100332807 100332807 C T snp 1037.77 0/1 99 105 49 56 0.53 ncRNA_exonic rs11633999 DNM1P46 AU 0.5114 0.5186 Uncertain 15_100332877_T->C 15 100332877 100332877 T C snp 889.77 0/1 99 87 47 40 0.46 ncRNA_exonic rs6598274 DNM1P46 AU 0.3395 0.3652 Uncertain 15_100332919_T->C 15 100332919 100332919 T C snp 582.77 0/1 99 68 38 30 0.44 ncRNA_exonic rs2603217 DNM1P46 AU 0.6267 0.5893 Uncertain 15_100333075_C->T 15 100333075 100333075 C T snp 539.77 1/1 39 24 0 24 1.0 ncRNA_exonic rs11634114 DNM1P46 AU 0.299965 0.3330 0.4930 Uncertain 15_100339709_G->A 15 100339709 100339709 G A snp 143.03 1/1 12 5 0 5 1.0 ncRNA_intronic rs8027068 DNM1P46 AU 0.768171 0.7252 Uncertain 15_100339897_T->C 15 100339897 100339897 T C snp 1015.77 0/1 99 103 51 52 0.5 ncRNA_exonic rs12910401 DNM1P46 AU 0.211462 0.1786 0.287858 0.2521 0.1820 Uncertain 15_100339938_C->T 15 100339938 100339938 C T snp 801.77 0/1 99 84 44 40 0.48 ncRNA_exonic rs12905599 DNM1P46 AU 0.210663 0.1786 0.286362 0.2404 0.1764 Uncertain 15_100339996_C->T 15 100339996 100339996 C T snp 255.77 0/1 99 34 22 12 0.35 ncRNA_exonic rs12905745 DNM1P46 AU 0.0022 0.0025 Uncertain 15_100339999_T->C 15 100339999 100339999 T C snp 218.77 0/1 99 31 20 11 0.35 ncRNA_exonic rs199701716 DNM1P46 AU 0.0017 0.0015 Uncertain 15_100340002_C->T 15 100340002 100340002 C T snp 225.77 0/1 99 27 17 10 0.37 ncRNA_exonic rs200405906 DNM1P46 AU 0.0017 0.0011 Uncertain 15_100340030_T->C 15 100340030 100340030 T C snp 119.77 0/1 99 12 7 5 0.42 ncRNA_exonic rs12910573 DNM1P46 AU 0.0766773 0.0377 0.0023 0.0010 Uncertain 15_100341157_T->C 15 100341157 100341157 T C snp 1088.77 0/1 99 92 40 52 0.57 ncRNA_intronic rs12916271 DNM1P46 AU 0.146565 0.1488 0.1480 0.1336 Uncertain 15_100345137_A->- 15 100345137 100345137 A - indel 1301.73 0/1 99 103 44 59 0.57 ncRNA_splicing rs202231117 DNM1P46 AU 0.145767 0.1369 0.216845 0.2158 0.1570 Uncertain 15_100347024_A->G 15 100347024 100347024 A G snp 150.9 1/1 15 8 0 8 1.0 ncRNA_exonic rs749856186 DNM1P46 AU 0.8119 0.75 Uncertain 15_100589056_T->C 15 100589056 100589056 T C snp 1686.77 0/1 99 142 71 71 0.5 splicing rs8028251 ADAMTS17 AR NM_139057 exon5 c.74455-5T>C 0.373602 0.4921 0.293172 0.2986 0.5005 Pathogenic 15_100591992_A->T 15 100591992 100591992 A T snp 871.77 0/1 99 76 39 37 0.49 intronic rs4965569 ADAMTS17 AR NM_139057 exon6 c.77330+56A>T 0.405751 0.4921 Uncertain 15_100594271_G->A 15 100594271 100594271 G A snp 1167.77 0/1 99 97 51 46 0.47 intronic rs28529328 ADAMTS17 AR NM_139057 exon7 c.79653+12G>A 0.307308 0.4435 0.244118 0.2676 0.4421 Uncertain 15_100594299_G->C 15 100594299 100594299 G C snp 771.77 0/1 99 68 35 33 0.49 intronic rs28587358 ADAMTS17 AR NM_139057 exon7 c.79653+40G>C 0.307708 0.4435 0.2677 0.4419 Uncertain 15_100594416_A->G 15 100594416 100594416 A G snp 141.03 1/1 12 4 0 4 1.0 intronic rs922669 ADAMTS17 AR NM_139057 exon7 c.79653+157A>G 0.372604 0.4454 Uncertain 15_100603987_A->G 15 100603987 100603987 A G snp 2321.77 1/1 99 79 0 79 1.0 intronic rs34229918 ADAMTS17 AR NM_139057 exon7 c.79653+9728A>G 0.308307 0.5099 0.1818 0.5 Uncertain 15_100604020_G->A 15 100604020 100604020 G A snp 1356.77 1/1 99 42 0 42 1.0 intronic rs61344232 ADAMTS17 AR NM_139057 exon7 c.79653+9761G>A 0.304912 0.4931 Uncertain 15_100636586_G->A 15 100636586 100636586 G A snp 3654.77 1/1 99 133 0 133 1.0 exonic rs4965583 ADAMTS17 AR synonymous SNV NM_139057 exon15 c.C2112T p.G704G 0.263778 0.5 0.165693 0.1877 0.4887 Uncertain 15_100672237_T->G 15 100672237 100672237 T G snp 4397.77 1/1 99 168 0 168 1.0 exonic rs12907333 ADAMTS17 AR synonymous SNV NM_139057 exon12 c.A1696C p.R566R 0.997604 1 0.998385 0.9995 1 Uncertain 15_100693032_-->T 15 100693032 100693032 - T indel 406.73 0/1 99 78 28 50 0.64 intronic rs10664668 ADAMTS17 AR NM_139057 exon13 c.178361+65insT Uncertain 15_100695282_AG->- 15 100695282 100695283 AG - indel 579.73 0/1 99 32 17 15 0.47 intronic ADAMTS17 AR NM_139057 exon14 c.180778-102_180778-101delAG Uncertain 15_100695347_T->C 15 100695347 100695347 T C snp 1131.77 0/1 99 91 44 47 0.52 intronic rs8024690 ADAMTS17 AR NM_139057 exon14 c.180778-37T>C 0.38139 0.246 0.395433 0.3632 0.2366 Uncertain 15_100794144_G->A 15 100794144 100794144 G A snp 99.28 1/1 9 3 0 3 1.0 intronic rs567616357 ADAMTS17 AR NM_139057 exon16 c.279734-196G>A 0.000599042 0.003 Uncertain 15_100794172_T->A 15 100794172 100794172 T A snp 428.77 1/1 33 15 0 15 1.0 intronic rs7172834 ADAMTS17 AR NM_139057 exon16 c.279734-168T>A 0.821086 0.8819 Uncertain 15_100794363_C->T 15 100794363 100794363 C T snp 2985.77 1/1 99 106 0 106 1.0 exonic rs4369638 ADAMTS17 AR synonymous SNV NM_139057 exon7 c.G1053A p.K351K 0.821486 0.8829 0.745348 0.7556 0.8721 Uncertain 15_100801603_T->C 15 100801603 100801603 T C snp 80.77 0/1 30 4 1 3 0.75 intronic rs4965295 ADAMTS17 AR NM_139057 exon17 c.287077-80T>C 0.688698 0.623 Uncertain 15_100801698_G->A 15 100801698 100801698 G A snp 473.77 0/1 99 54 32 22 0.41 exonic rs4965613 ADAMTS17 AR synonymous SNV NM_139057 exon6 c.C1017T p.A339A 0.692093 0.622 0.673997 0.6826 0.6263 Uncertain 15_100801965_G->T 15 100801965 100801965 G T snp 139.77 0/1 99 18 10 8 0.44 intronic rs6598316 ADAMTS17 AR NM_139057 exon17 c.287235+124G>T 0.681909 0.622 Uncertain 15_100802034_C->T 15 100802034 100802034 C T snp 43.77 0/1 72 4 2 2 0.5 intronic rs6598317 ADAMTS17 AR NM_139057 exon17 c.287235+193C>T 0.576278 0.5764 Uncertain 15_100802040_G->A 15 100802040 100802040 G A snp 43.77 0/1 62 4 2 2 0.5 intronic rs6598318 ADAMTS17 AR NM_139057 exon17 c.287235+199G>A 0.588259 0.5774 Uncertain 15_100802495_G->A 15 100802495 100802495 G A snp 295.77 0/1 99 39 25 14 0.36 intronic rs4965296 ADAMTS17 AR NM_139057 exon18 c.287950-61G>A 0.586262 0.5774 Uncertain 15_100802499_A->G 15 100802499 100802499 A G snp 322.77 0/1 99 40 25 15 0.38 intronic rs4965297 ADAMTS17 AR NM_139057 exon18 c.287950-57A>G 0.688898 0.622 0.662724 Uncertain 15_100821467_G->A 15 100821467 100821467 G A snp 615.77 0/1 99 49 20 29 0.59 exonic rs7496640 ADAMTS17 AR synonymous SNV NM_139057 exon4 c.C756T p.A252A 0.5 0.505 0.384976 0.4296 0.5405 Uncertain 15_100821576_G->A 15 100821576 100821576 G A snp 798.77 0/1 99 55 23 32 0.58 exonic rs7496668 ADAMTS17 AR nonsynonymous SNV NM_139057 exon4 c.C647T p.S216L 0.484625 0.505 0.362566 0.4260 0.5375 0.35 T 0.0 P -0.928 T 0.009 T 0.002 T Pathogenic 15_100821647_T->C 15 100821647 100821647 T C snp 483.77 0/1 99 39 19 20 0.51 intronic rs7497712 ADAMTS17 AR NM_139057 exon19 c.307000+41T>C 0.500799 0.506 0.379889 0.4546 0.5531 Uncertain 15_100821783_G->A 15 100821783 100821783 G A snp 98.77 0/1 99 8 4 4 0.5 intronic rs7496721 ADAMTS17 AR NM_139057 exon19 c.307000+177G>A 0.500399 0.506 Uncertain 15_100821806_G->C 15 100821806 100821806 G C snp 40.77 0/1 69 5 3 2 0.4 intronic rs7496722 ADAMTS17 AR NM_139057 exon19 c.307000+200G>C 0.590655 0.5615 Uncertain 15_100846898_C->T 15 100846898 100846898 C T snp 83.77 0/1 72 6 3 3 0.5 intronic rs10902570 ADAMTS17 AR NM_139057 exon20 c.356487-24195C>T 0.720847 0.5655 Uncertain 15_100846908_G->T 15 100846908 100846908 G T snp 86.77 0/1 30 4 1 3 0.75 intronic rs10902571 ADAMTS17 AR NM_139057 exon20 c.356487-24185G>T 0.699281 0.5655 Uncertain 15_100881214_G->T 15 100881214 100881214 G T snp 156.77 0/1 99 14 7 7 0.5 intronic rs882607 ADAMTS17 AR NM_139057 exon21 c.366637-29G>T 0.322484 0.1815 0.2324 0.1615 Uncertain 15_100881995_G->C 15 100881995 100881995 G C snp 1102.77 0/1 99 54 14 40 0.74 intronic rs2585224 ADAMTS17 AR NM_139057 exon22 c.367419-30G>C 0.328275 0.1855 0.287660 0.2861 0.2092 Uncertain 15_100882123_C->- 15 100882123 100882123 C - indel 1613.73 0/1 99 100 41 59 0.59 UTR5 rs150933882 ADAMTS17 AR 0.193291 0.1835 0.130302 0.1358 0.1872 Uncertain 15_100882270_G->A 15 100882270 100882270 G A snp 418.77 0/1 99 36 13 23 0.64 upstream rs12148712 ADAMTS17 AR 0.203075 0.1835 Uncertain 15_100889405_G->C 15 100889405 100889405 G C snp 739.77 0/1 99 66 35 31 0.47 ncRNA_exonic rs4965641 SPATA41 AU 0.330671 0.4127 Uncertain 15_100889442_A->G 15 100889442 100889442 A G snp 1066.77 0/1 99 90 44 46 0.51 ncRNA_exonic rs4965642 SPATA41 AU 0.354034 0.4157 Uncertain 15_100889496_T->G 15 100889496 100889496 T G snp 1085.77 0/1 99 104 53 51 0.49 ncRNA_exonic rs2289584 SPATA41 AU 0.623203 0.4623 Uncertain 15_100942843_G->T 15 100942843 100942843 G T snp 291.78 1/1 24 9 1 8 0.89 ncRNA_intronic rs1023782 CERS3-AS1 AU 0.527756 0.4563 Uncertain 15_100942962_T->C 15 100942962 100942962 T C snp 2199.77 1/1 99 74 0 74 1.0 exonic rs2439928 CERS3 AR nonsynonymous SNV NM_178842 exon13 c.A1108G p.R370G 0.986022 0.999 0.983700 0.9956 0.9997 0.59 T 0.0 P -0.987 T 0.0 T 0.0 T Pathogenic 15_100995925_A->G 15 100995925 100995925 A G snp 596.77 1/1 45 15 0 15 1.0 intronic rs12050655 CERS3 AR NM_001290342 exon2 c.53180-172A>G 0.433906 0.4107 Uncertain 15_100996038_C->T 15 100996038 100996038 C T snp 4708.77 1/1 99 175 0 175 1.0 intronic rs12595207 CERS3 AR NM_001290342 exon2 c.53180-59C>T 0.662141 0.5843 Uncertain 15_101009474_A->T 15 101009474 101009474 A T snp 153.77 0/1 99 10 5 5 0.5 intronic rs34108242 CERS3 AR NM_001290342 exon3 c.66665-108A>T 0.389776 0.4276 Uncertain 15_101009530_G->A 15 101009530 101009530 G A snp 707.77 0/1 99 60 31 29 0.48 intronic rs12909732 CERS3 AR NM_001290342 exon3 c.66665-52G>A 0.390176 0.4276 Uncertain 15_101019529_C->T 15 101019529 101019529 C T snp 736.77 1/1 54 28 0 28 1.0 intronic rs2654574 CERS3 AR NM_001290342 exon6 c.76715-103C>T 0.985423 1 Uncertain 15_101019819_G->T 15 101019819 101019819 G T snp 213.82 0/1 19 11 1 10 0.91 intronic rs2587763 CERS3 AR NM_001290342 exon6 c.76766+136G>T 0.729633 0.8006 Uncertain 15_101019864_C->G 15 101019864 101019864 C G snp 99.28 1/1 9 4 0 4 1.0 intronic rs2654573 CERS3 AR NM_001290342 exon6 c.76766+181C>G 0.869808 0.9444 Uncertain 15_101020129_T->A 15 101020129 101020129 T A snp 324.77 0/1 99 27 16 11 0.41 intronic rs2587764 CERS3 AR NM_001290342 exon7 c.77276-64T>A 0.236621 0.372 Uncertain 15_101041896_T->C 15 101041896 101041896 T C snp 5917.77 1/1 99 206 0 206 1.0 exonic rs1354332 CERS3 AR synonymous SNV NM_178842 exon4 c.A159G p.R53R 0.774361 0.9286 0.768261 0.8459 0.9217 Uncertain 15_101109358_A->G 15 101109358 101109358 A G snp 77.77 0/1 67 5 2 3 0.6 downstream rs28438569 LINS AU 0.311502 0.246 Uncertain 15_101109677_C->A 15 101109677 101109677 C A snp 3038.77 0/1 99 250 134 116 0.46 exonic rs8451 LINS AU nonsynonymous SNV NM_001040616 exon7 c.G2040T p.R680S 0.311502 0.246 0.406120 0.3850 0.2096 0.36 T 0.000 P -0.928 T 0.023 T 0.013 T Pathogenic 15_101109794_C->G 15 101109794 101109794 C G snp 2299.77 0/1 99 189 97 92 0.49 exonic rs12157 LINS AU nonsynonymous SNV NM_001040616 exon7 c.G1923C p.E641D 0.311502 0.244 0.406120 0.3848 0.2095 0.83 T 0.0 P -0.923 T 0.0 T 0.001 T Pathogenic 15_101109818_G->A 15 101109818 101109818 G A snp 2187.77 0/1 99 159 73 86 0.54 exonic rs12460 LINS AU synonymous SNV NM_001040616 exon7 c.C1899T p.D633D 0.45627 0.4911 0.502153 0.5056 0.4987 Uncertain 15_101109893_C->A 15 101109893 101109893 C A snp 1502.77 0/1 99 102 45 57 0.56 exonic rs6598356 LINS AU synonymous SNV NM_001040616 exon7 c.G1824T p.G608G 0.311701 0.247 0.406120 0.3848 0.2098 Uncertain 15_101110265_T->A 15 101110265 101110265 T A snp 551.77 0/1 99 52 27 25 0.48 exonic rs2411836 LINS AU synonymous SNV NM_001040616 exon7 c.A1452T p.T484T 0.311502 0.246 0.405568 0.3860 0.2083 Uncertain 15_101110302_C->G 15 101110302 101110302 C G snp 492.77 0/1 99 46 24 22 0.48 exonic rs2411837 LINS AU nonsynonymous SNV NM_001040616 exon7 c.G1415C p.S472T 0.254792 0.2252 0.338896 0.3438 0.1874 0.07 T 0.0 P -0.912 T 0.372 T 0.114 T Pathogenic 15_101110356_T->C 15 101110356 101110356 T C snp 145.77 0/1 99 21 13 8 0.38 intronic rs2411838 LINS AU NM_001040616 exon1 c.880+34T>C 0.311502 0.246 0.399382 0.3846 0.2074 Uncertain 15_101110373_AC->- 15 101110373 101110374 AC - indel 179.73 0/1 99 16 10 6 0.38 intronic rs3084804 LINS AU NM_001040616 exon1 c.880+51_880+52delAC 0.311502 0.246 0.399770 0.3787 0.2061 Uncertain 15_101111932_A->G 15 101111932 101111932 A G snp 78.77 0/1 63 5 2 3 0.6 intronic rs8024825 LINS AU NM_001040616 exon2 c.2656-166A>G 0.315296 0.247 Uncertain 15_101112342_T->C 15 101112342 101112342 T C snp 412.77 0/1 99 19 7 12 0.63 intronic rs1493652 LINS AU NM_001040616 exon2 c.2828+72T>C 0.750599 0.3889 Uncertain 15_101113748_C->T 15 101113748 101113748 C T snp 334.77 0/1 99 20 8 12 0.6 intronic rs2062816 LINS AU NM_001040616 exon3 c.4413-107C>T 0.327476 0.246 0.4955 0.2687 Uncertain 15_101113862_C->T 15 101113862 101113862 C T snp 1166.77 0/1 99 122 71 51 0.42 exonic rs12719734 LINS AU nonsynonymous SNV NM_001040616 exon5 c.G1216A p.V406M 0.895168 0.6339 0.980317 0.9542 0.6076 0.79 T 0.000 P -0.968 T 0.0 T 0.001 T Pathogenic 15_101113950_A->G 15 101113950 101113950 A G snp 2213.77 0/1 99 186 98 88 0.47 exonic rs12592868 LINS AU synonymous SNV NM_001040616 exon5 c.T1128C p.S376S 0.327476 0.246 0.419422 0.3885 0.2096 Uncertain 15_101114418_G->A 15 101114418 101114418 G A snp 1005.77 0/1 99 71 33 38 0.54 exonic rs8039437 LINS AU synonymous SNV NM_001040616 exon5 c.C660T p.F220F 0.314297 0.246 0.399207 0.3867 0.2104 Uncertain 15_101115448_C->A 15 101115448 101115448 C A snp 49.77 0/1 33 4 1 3 0.75 intronic rs4965678 LINS AU NM_001040616 exon4 c.5891+115C>A 0.750399 0.3879 Uncertain 15_101120963_T->C 15 101120963 101120963 T C snp 981.77 0/1 99 66 25 41 0.62 exonic rs11247226 LINS AU nonsynonymous SNV NM_001040616 exon2 c.A85G p.I29V 0.298522 0.246 0.388052 0.3836 0.2103 0.86 T 0.0 P -0.916 T 0.005 T 0.005 T Pathogenic 15_101152745_A->C 15 101152745 101152745 A C snp 990.77 1/1 72 28 0 28 1.0 intronic rs4965683 ASB7 AU NM_198243 exon4 c.211+113A>C 0.985423 1 Uncertain 15_101188340_C->G 15 101188340 101188340 C G snp 129.03 1/1 12 4 0 4 1.0 intronic rs4965692 ASB7 AU NM_198243 exon6 c.36106-187C>G 0.982628 1 Uncertain 15_101418335_A->G 15 101418335 101418335 A G snp 129.03 1/1 12 4 0 4 1.0 intergenic rs3809527 ASB7 AU 0.21865 0.4236 Uncertain 15_101418341_T->C 15 101418341 101418341 T C snp 88.28 1/1 9 3 0 3 1.0 intergenic rs3809526 ASB7 AU 0.45008 0.5784 Uncertain 15_101425703_T->C 15 101425703 101425703 T C snp 313.77 0/1 99 23 9 14 0.61 intronic rs4646656 ALDH1A3 AR NM_001293815 exon2 c.5464+127T>C 0.458067 0.6687 Uncertain 15_101440988_A->C 15 101440988 101440988 A C snp 1207.77 0/1 99 88 34 54 0.61 intronic rs4646674 ALDH1A3 AR NM_001293815 exon6 c.20852+24A>C 0.689696 0.7173 0.654237 0.6528 0.7332 Uncertain 15_101441055_T->C 15 101441055 101441055 T C snp 438.77 0/1 99 29 12 17 0.59 intronic rs4646675 ALDH1A3 AR NM_001293815 exon6 c.20852+91T>C 0.690495 0.7153 Uncertain 15_101447588_A->G 15 101447588 101447588 A G snp 559.77 0/1 99 56 33 23 0.41 intronic rs4646684 ALDH1A3 AR NM_001293815 exon8 c.27371+105A>G 0.673123 0.7173 Uncertain 15_101448783_G->A 15 101448783 101448783 G A snp 844.77 0/1 99 63 32 31 0.49 intronic rs4646687 ALDH1A3 AR NM_001293815 exon9 c.28575+96G>A 0.247604 0.1181 Uncertain 15_101523661_G->C 15 101523661 101523661 G C snp 172.9 1/1 15 5 0 5 1.0 intronic rs11632621 LRRK1 AU NM_024652 exon4 c.58895-71G>C 0.953275 0.999 Uncertain 15_101526813_G->A 15 101526813 101526813 G A snp 48.74 1/1 6 2 0 2 1.0 intronic rs11636885 LRRK1 AU NM_024652 exon5 c.64001-2025G>A 0.261382 0.498 Uncertain 15_101527052_A->G 15 101527052 101527052 A G snp 2760.77 1/1 99 100 0 100 1.0 intronic rs1551467 LRRK1 AU NM_024652 exon5 c.64001-1786A>G 0.391773 0.5069 Uncertain 15_101527096_G->C 15 101527096 101527096 G C snp 1860.77 1/1 99 64 0 64 1.0 intronic rs1551466 LRRK1 AU NM_024652 exon5 c.64001-1742G>C 0.482628 0.5258 Uncertain 15_101527411_C->T 15 101527411 101527411 C T snp 2487.77 1/1 99 92 0 92 1.0 intronic rs2168376 LRRK1 AU NM_024652 exon5 c.64001-1427C>T 0.36222 0.5079 Uncertain 15_101527412_A->G 15 101527412 101527412 A G snp 2340.77 1/1 99 92 0 92 1.0 intronic rs1551465 LRRK1 AU NM_024652 exon5 c.64001-1426A>G 0.36242 0.5089 Uncertain 15_101527635_G->A 15 101527635 101527635 G A snp 6465.77 1/1 99 247 0 247 1.0 intronic rs7176015 LRRK1 AU NM_024652 exon5 c.64001-1203G>A 0.528754 0.5278 Uncertain 15_101529118_C->T 15 101529118 101529118 C T snp 593.77 1/1 45 16 0 16 1.0 intronic rs4357923 LRRK1 AU NM_024652 exon5 c.64181+100C>T 0.545327 0.5308 Uncertain 15_101529314_A->G 15 101529314 101529314 A G snp 96.28 1/1 9 3 0 3 1.0 intronic rs12915347 LRRK1 AU NM_024652 exon6 c.64617-140A>G 0.508586 0.5298 Uncertain 15_101549408_T->C 15 101549408 101549408 T C snp 224.84 1/1 18 6 0 6 1.0 intronic rs56151186 LRRK1 AU NM_024652 exon7 c.84431+140T>C 0.274561 0.4722 Uncertain 15_101550858_G->T 15 101550858 101550858 G T snp 2682.77 1/1 99 84 1 83 0.99 intronic rs12595297 LRRK1 AU NM_024652 exon9 c.86041-20G>T 0.726837 0.7589 0.716772 0.7106 0.7344 Uncertain 15_101550862_T->- 15 101550862 101550862 T - indel 842.74 0/1 68 81 16 65 0.8 intronic rs11300776 LRRK1 AU NM_024652 exon9 c.86041-16delT 0.771765 0.8234 0.5129 0.5135 Uncertain 15_101551136_C->T 15 101551136 101551136 C T snp 54.74 1/1 6 2 0 2 1.0 intronic rs878274 LRRK1 AU NM_024652 exon9 c.86205+94C>T 0.698882 0.755 Uncertain 15_101552079_C->T 15 101552079 101552079 C T snp 40.77 0/1 33 3 1 2 0.67 intronic LRRK1 AU NM_024652 exon10 c.87375-133C>T Uncertain 15_101555399_G->A 15 101555399 101555399 G A snp 2735.77 1/1 99 81 0 81 1.0 intronic rs2034809 LRRK1 AU NM_024652 exon12 c.90693-131G>A 0.519369 0.7867 Uncertain 15_101561981_GTGTGTGT->- 15 101561981 101561988 GTGTGTGT - indel 1190.73 1/1 42 14 0 14 1.0 intronic rs763128421 LRRK1 AU NM_024652 exon14 c.97212-68_97212-61delGTGTGTGT Uncertain 15_101562793_G->A 15 101562793 101562793 G A snp 1573.77 1/1 99 46 0 46 1.0 exonic rs11247253 LRRK1 AU synonymous SNV NM_024652 exon15 c.G2058A p.S686S 0.730631 0.8194 0.721314 0.8375 0.8395 Uncertain 15_101562826_G->A 15 101562826 101562826 G A snp 280.77 0/1 99 19 10 9 0.47 intronic rs117501730 LRRK1 AU NM_024652 exon15 c.97965+24G>A 0.00259585 0.0109 0.0013 0.0184 Uncertain 15_101589765_T->G 15 101589765 101589765 T G snp 639.77 1/1 48 18 0 18 1.0 intronic rs897484 LRRK1 AU NM_024652 exon23 c.125011-83T>G 0.828474 0.9623 Uncertain 15_101590180_C->T 15 101590180 101590180 C T snp 56.74 1/1 6 2 0 2 1.0 intronic rs72766853 LRRK1 AU NM_024652 exon23 c.125151+192C>T 0.13099 0.2917 Uncertain 15_101591782_G->C 15 101591782 101591782 G C snp 431.77 1/1 33 12 0 12 1.0 intronic rs79068682 LRRK1 AU NM_024652 exon24 c.127078-133G>C 0.170327 0.4454 Uncertain 15_101591846_A->G 15 101591846 101591846 A G snp 970.77 1/1 72 30 0 30 1.0 intronic rs76612760 LRRK1 AU NM_024652 exon24 c.127078-69A>G 0.174521 0.4563 Uncertain 15_101591858_G->- 15 101591858 101591858 G - indel 1227.73 1/1 99 35 0 35 1.0 intronic rs10710683 LRRK1 AU NM_024652 exon24 c.127078-57delG 0.974641 1 Uncertain 15_101591923_A->G 15 101591923 101591923 A G snp 2517.77 1/1 99 82 0 82 1.0 exonic rs4965778 LRRK1 AU synonymous SNV NM_024652 exon24 c.A3447G p.T1149T 0.451078 0.8006 0.310035 0.4456 0.8068 Uncertain 15_101595257_G->A 15 101595257 101595257 G A snp 6754.77 1/1 99 240 0 240 1.0 exonic rs41372244 LRRK1 AU synonymous SNV NM_024652 exon27 c.G4161A p.L1387L 0.152157 0.374 0.059453 0.1266 0.3808 Uncertain 15_101597266_A->G 15 101597266 101597266 A G snp 4335.77 1/1 99 156 0 156 1.0 intronic rs2924845 LRRK1 AU NM_024652 exon28 c.132418+11A>G 0.54373 0.8274 0.398050 0.4737 0.8260 Uncertain 15_101601564_A->T 15 101601564 101601564 A T snp 348.77 0/1 99 21 9 12 0.57 intronic rs72766872 LRRK1 AU NM_024652 exon30 c.136656+71A>T 0.222644 0.3274 Uncertain 15_101606261_C->T 15 101606261 101606261 C T snp 6359.77 1/1 99 226 0 226 1.0 exonic rs3764739 LRRK1 AU synonymous SNV NM_024652 exon32 c.C5619T p.T1873T 0.146166 0.3611 0.050742 0.1168 0.3468 Uncertain 15_101607450_T->C 15 101607450 101607450 T C snp 3068.77 1/1 99 116 0 116 1.0 intronic rs78439439 LRRK1 AU NM_024652 exon33 c.142109+504T>C 0.176717 0.494 0.1048 0.4470 0 D 0.000 P -0.908 T Uncertain 15_101607535_C->G 15 101607535 101607535 C G snp 603.77 0/1 99 67 39 28 0.42 intronic rs77600629 LRRK1 AU NM_024652 exon33 c.142109+589C>G 0.0413339 0.121 0.0045 0.0985 Uncertain 15_101717680_G->T 15 101717680 101717680 G T snp 1431.77 0/1 99 138 75 63 0.46 exonic rs8024370 CHSY1 AR synonymous SNV NM_014918 exon3 c.C2322A p.T774T 0.759784 0.8958 0.664770 0.6468 0.8799 Uncertain 15_101718097_C->G 15 101718097 101718097 C G snp 2413.77 0/1 99 210 104 106 0.5 exonic rs28364839 CHSY1 AR synonymous SNV NM_014918 exon3 c.G1905C p.V635V 0.240815 0.0347 0.298093 0.2313 0.0363 Uncertain 15_101718239_C->G 15 101718239 101718239 C G snp 2315.77 0/1 99 161 76 85 0.53 exonic rs62621400 CHSY1 AR nonsynonymous SNV NM_014918 exon3 c.G1763C p.R588T 0.0477236 0.047132 0.0637 0.0006 0.56 T 1 D -1.014 T 0.007 T 0.036 T Pathogenic 15_101791262_C->A 15 101791262 101791262 C A snp 479.77 0/1 99 32 15 17 0.53 intronic rs7171436 CHSY1 AR NM_014918 exon3 c.73749-79C>A 0.288938 0.2579 Uncertain 15_101791359_C->G 15 101791359 101791359 C G snp 1581.77 0/1 99 175 107 68 0.39 exonic rs7176149 CHSY1 AR synonymous SNV NM_014918 exon1 c.G303C p.R101R 0.228035 0.0833 0.239012 0.2156 0.1124 Uncertain 15_101791605_G->A 15 101791605 101791605 G A snp 258.77 0/1 99 21 10 11 0.52 exonic rs7175303 CHSY1 AR synonymous SNV NM_014918 exon1 c.C57T p.G19G 0.210064 0.0179 0.1752 0.0263 Uncertain 15_101791696_A->C 15 101791696 101791696 A C snp 86.28 1/1 9 3 0 3 1.0 UTR5 CHSY1 AR Uncertain 15_101815354_T->A 15 101815354 101815354 T A snp 477.77 0/1 99 43 22 21 0.49 intronic rs117613208 VIMP AU NM_018445 exon4 c.2484-105T>A 0.0171725 0.0516 Uncertain 15_101826347_G->A 15 101826347 101826347 G A snp 159.77 0/1 59 7 2 5 0.71 intronic rs28558765 SNRPA1 AU NM_003090 exon4 c.4490-71G>A 0.0569089 0.1002 Uncertain 15_101826919_G->A 15 101826919 101826919 G A snp 292.78 1/1 24 8 0 8 1.0 intronic rs28698071 SNRPA1 AU NM_003090 exon5 c.5184-193G>A 0.477436 0.3581 Uncertain 15_101827759_T->C 15 101827759 101827759 T C snp 225.77 0/1 99 41 26 15 0.37 intronic rs35525027 SNRPA1 AU NM_003090 exon6 c.5932-101T>C 0.390775 0.3353 Uncertain 15_101827855_C->T 15 101827855 101827855 C T snp 596.77 0/1 99 69 43 26 0.38 splicing rs61752834 SNRPA1 AU NM_003090 exon6 c.5932-5C>T 0.390775 0.3353 0.388974 0.3681 0.3449 Pathogenic 15_101835164_G->C 15 101835164 101835164 G C snp 442.77 0/1 99 46 27 19 0.41 intronic rs3784521 SNRPA1 AU NM_003090 exon9 c.13373-137G>C 0.0207668 0.1012 Uncertain 15_101871941_-->A 15 101871941 101871941 - A indel 1546.73 0/1 99 93 49 44 0.47 intronic rs34318939 PCSK6 AU NM_002570 exon8 c.26432+47insA 0.597244 0.623 0.631610 0.5588 0.6133 Uncertain 15_101887767_C->T 15 101887767 101887767 C T snp 193.77 0/1 99 12 4 8 0.67 intronic rs2949 PCSK6 AU NM_138324 exon1 c.55-215C>T 0.482029 0.631 Uncertain 15_101887794_T->C 15 101887794 101887794 T C snp 317.77 0/1 99 19 7 12 0.63 intronic rs1030 PCSK6 AU NM_138324 exon1 c.55-188T>C 0.737021 0.7847 Uncertain 15_101888081_C->T 15 101888081 101888081 C T snp 249.77 0/1 99 28 19 9 0.32 intronic rs875293 PCSK6 AU NM_138324 exon1 c.55+99C>T 0.481829 0.629 Uncertain 15_101905084_G->A 15 101905084 101905084 G A snp 237.77 0/1 97 11 3 8 0.73 intronic rs4965833 PCSK6 AU NM_138324 exon2 c.17276-119G>A 0.417931 0.5446 0.356467 0.3745 0.6508 Uncertain 15_101906205_T->C 15 101906205 101906205 T C snp 77.77 0/1 99 6 3 3 0.5 intronic rs8029952 PCSK6 AU NM_002570 exon10 c.60938-195T>C 0.438498 0.5446 Uncertain 15_101906263_T->C 15 101906263 101906263 T C snp 546.77 0/1 99 32 11 21 0.66 intronic rs8034182 PCSK6 AU NM_002570 exon10 c.60938-137T>C 0.439097 0.5446 Uncertain 15_101910511_A->C 15 101910511 101910511 A C snp 1484.77 0/1 99 151 87 64 0.42 intronic rs2073591 PCSK6 AU NM_002570 exon11 c.65077-28A>C 0.452875 0.6736 0.348760 0.4113 0.7153 Uncertain 15_101910550_G->A 15 101910550 101910550 G A snp 1822.77 0/1 99 155 79 76 0.49 exonic rs20543 PCSK6 AU unknown 0.451677 0.6716 0.356734 0.4554 0.7165 Uncertain 15_101910800_A->G 15 101910800 101910800 A G snp 171.9 1/1 15 5 0 5 1.0 intronic rs2073590 PCSK6 AU NM_002570 exon11 c.65266+72A>G 0.380591 0.4653 Uncertain 15_101922184_C->G 15 101922184 101922184 C G snp 56.74 1/1 6 2 0 2 1.0 intronic rs3784487 PCSK6 AU NM_002570 exon12 c.76834-112C>G 0.240216 0.125 Uncertain 15_101922323_A->G 15 101922323 101922323 A G snp 1848.77 0/1 99 133 62 71 0.53 exonic rs1058260 PCSK6 AU unknown 0.235823 0.125 0.250000 0.2722 0.1970 Uncertain 15_101922596_A->T 15 101922596 101922596 A T snp 71.77 0/1 99 9 6 3 0.33 intronic rs2277590 PCSK6 AU NM_002570 exon12 c.76952+182A>T 0.63738 0.5873 Uncertain 15_101929633_T->- 15 101929633 101929633 T - indel 1636.73 0/1 99 135 57 78 0.58 intronic rs33912717 PCSK6 AU NM_002570 exon14 c.84206-35delT 0.623802 0.5595 0.5265 0.5400 Uncertain 15_101929825_G->C 15 101929825 101929825 G C snp 874.77 0/1 99 38 12 26 0.68 intronic rs6598460 PCSK6 AU NM_002570 exon14 c.84307+56G>C 0.796326 0.6111 Uncertain 15_101970308_G->A 15 101970308 101970308 G A snp 1037.77 0/1 99 100 53 47 0.47 intronic rs2643354 PCSK6 AU NM_002570 exon18 c.124806+40G>A 0.839257 0.6329 0.935097 0.8769 0.6341 Uncertain 15_101971388_T->C 15 101971388 101971388 T C snp 182.77 0/1 99 12 6 6 0.5 intronic rs2643356 PCSK6 AU NM_002570 exon19 c.126062-136T>C 0.564896 0.4097 Uncertain 15_101972034_C->T 15 101972034 101972034 C T snp 71.77 0/1 99 8 5 3 0.38 intronic rs60227633 PCSK6 AU NM_002570 exon20 c.126732-160C>T 0.0213658 0.0228 Uncertain 15_101984036_C->T 15 101984036 101984036 C T snp 272.77 0/1 99 18 7 11 0.61 intronic rs11855154 PCSK6 AU NM_002570 exon21 c.138403+171C>T 0.210663 0.2153 Uncertain 15_102003207_G->A 15 102003207 102003207 G A snp 70.77 0/1 69 5 2 3 0.6 intronic rs4965386 PCSK6 AU NM_002570 exon21 c.138403+19342G>A 0.658147 0.5516 Uncertain 15_102003209_G->A 15 102003209 102003209 G A snp 76.77 0/1 67 5 2 3 0.6 intronic rs4965387 PCSK6 AU NM_002570 exon21 c.138403+19344G>A 0.658147 0.5516 Uncertain 15_102029685_-->GC 15 102029685 102029685 - GC indel 2117.73 1/1 99 49 0 49 1.0 exonic rs199543153 PCSK6 AU unknown 0.993011 1 0.989044 1 . Uncertain 15_102177170_C->T 15 102177170 102177170 C T snp 501.77 0/1 99 48 25 23 0.48 intergenic rs192092168 PCSK6 AU 0.000399361 0.002 0.0001 0.0079 Uncertain 15_102191869_G->A 15 102191869 102191869 G A snp 377.77 0/1 99 70 49 21 0.3 intronic rs672314 TM2D3 AU NM_078474 exon5 c.9217-29G>A 0.595847 0.2659 0.745118 0.6603 0.2736 Uncertain 15_102192418_C->T 15 102192418 102192418 C T snp 1215.77 0/1 99 118 65 53 0.45 intronic rs3743188 TM2D3 AU NM_078474 exon6 c.9792-55C>T 0.332867 0.2202 0.322665 0.3804 0.2919 Uncertain 15_102192548_A->C 15 102192548 102192548 A C snp 3884.77 1/1 99 149 0 149 1.0 exonic rs2939587 TM2D3 AU nonsynonymous SNV NM_025141 exon1 c.T17G p.L6R 0.993411 1 0.985435 0.9798 0.9999 0.55 T 0.000 P -1.015 T 0.0 T 0.0 T Pathogenic 15_102192689_G->T 15 102192689 102192689 G T snp 58.77 0/1 87 9 6 3 0.33 upstream rs3743186 TM2D3 AU 0.0758786 0.1091 Uncertain 15_102224341_G->A 15 102224341 102224341 G A snp 1810.77 0/1 99 145 67 78 0.54 exonic rs12901450 TARSL2 AU synonymous SNV NM_152334 exon12 c.C1587T p.S529S 0.398762 0.7014 0.253960 0.3345 0.6929 Uncertain 15_102226333_T->C 15 102226333 102226333 T C snp 225.77 0/1 99 18 10 8 0.44 intronic rs28640036 TARSL2 AU NM_152334 exon9 c.31481+68T>C 0.11222 0.1062 Uncertain 15_102251993_G->A 15 102251993 102251993 G A snp 500.77 0/1 99 59 38 21 0.36 intronic rs11247320 TARSL2 AU NM_152334 exon15 c.57298-89G>A 0.625599 0.5109 Uncertain 15_102264304_G->C 15 102264304 102264304 G C snp 744.77 1/1 54 24 0 24 1.0 exonic rs1143138 TARSL2 AU nonsynonymous SNV NM_152334 exon1 c.C287G p.A96G 0.458666 0.8165 0.184234 0.5845 0.8277 0.52 T 0.0 P -0.964 T 0.0 T 0.001 T Pathogenic 15_102284495_T->C 15 102284495 102284495 T C snp 65.77 0/1 94 18 14 4 0.22 intergenic rs71407366 TARSL2 AU Uncertain 15_102284543_G->- 15 102284543 102284543 G - indel 951.73 0/1 99 77 47 30 0.39 intergenic rs398028556 TARSL2 AU 0.365815 0.5685 Uncertain 15_102288279_T->C 15 102288279 102288279 T C snp 460.77 1/1 42 15 0 15 1.0 intergenic rs139441800 TARSL2 AU 0.747005 0.9514 Uncertain 15_102291955_G->A 15 102291955 102291955 G A snp 2438.77 1/1 99 87 1 86 0.99 intergenic rs397212 TARSL2 AU 0.463458 0.751 0.3842 0.7381 Uncertain 15_102311914_T->G 15 102311914 102311914 T G snp 32.77 0/1 61 17 14 3 0.18 intergenic rs2641284 TARSL2 AU Uncertain 15_102312009_G->A 15 102312009 102312009 G A snp 255.77 0/1 99 96 74 22 0.23 intergenic rs111745531 TARSL2 AU Uncertain 15_102312316_A->- 15 102312316 102312316 A - indel 5829.73 1/1 99 141 0 141 1.0 intergenic rs398028557 TARSL2 AU 1 1 Uncertain 15_102312368_A->C 15 102312368 102312368 A C snp 87.77 0/1 99 133 101 32 0.24 intergenic TARSL2 AU Uncertain 16_81639_C->A 16 81639 81639 C A snp 224.77 0/1 99 24 15 9 0.38 intergenic rs118023239 WASIR2 AU 0.741613 0.6002 Uncertain 16_97610_G->A 16 97610 97610 G A snp 3780.77 1/1 99 141 0 141 1.0 intronic rs798675 POLR3K AU NM_016310 exon1 c.128+53G>A 0.486022 0.3968 Uncertain 16_103449_-->G 16 103449 103449 - G indel 4077.73 1/1 99 97 0 97 1.0 intronic rs11376822 POLR3K AU NM_016310 exon3 c.6046-26insG 1 1 0.999840 1.0000 1 Uncertain 16_103517_A->C 16 103517 103517 A C snp 4036.77 1/1 99 166 0 166 1.0 exonic rs183360 POLR3K AU nonsynonymous SNV NM_016310 exon1 c.T70G p.S24A 1 1 1 1 0.82 T 1.0 P -0.951 T 0.0 T 0.001 T Pathogenic 16_106952_-->C 16 106952 106952 - C indel 471.73 1/1 36 13 0 13 1.0 intronic rs11435836 SNRNP25 AU NM_024571 exon5 c.3096-133insC 1 1 Uncertain 16_108796_-->G 16 108796 108796 - G indel 3007.73 1/1 99 76 0 76 1.0 intronic rs34941405 RHBDF1 AU NM_022450 exon1 c.420+38insG 1 1 0.999758 1.0000 0.9999 Uncertain 16_109665_A->G 16 109665 109665 A G snp 2335.77 0/1 99 201 101 100 0.5 intronic rs3213509 RHBDF1 AU NM_022450 exon5 c.1391-64A>G 0.196086 0.3214 Uncertain 16_109671_A->G 16 109671 109671 A G snp 2249.77 0/1 99 195 101 94 0.48 intronic rs216599 RHBDF1 AU NM_022450 exon5 c.1391-58A>G 0.867212 0.745 Uncertain 16_110165_T->C 16 110165 110165 T C snp 1411.77 0/1 99 139 82 57 0.41 intronic rs216600 RHBDF1 AU NM_022450 exon6 c.1875-48T>C 0.867812 0.747 0.882900 0.8633 0.7591 Uncertain 16_112513_T->C 16 112513 112513 T C snp 769.77 0/1 99 59 31 28 0.47 intronic rs216604 RHBDF1 AU NM_022450 exon12 c.4197-22T>C 0.866214 0.746 0.881352 0.8610 0.7553 Uncertain 16_113493_G->C 16 113493 113493 G C snp 35.77 0/1 64 6 4 2 0.33 intronic rs743724 RHBDF1 AU NM_022450 exon15 c.5246-91G>C 0.672524 0.748 Uncertain 16_113883_-->CC 16 113883 113883 - CC indel 10241.7 1/1 99 202 0 202 1.0 intronic rs10659183 RHBDF1 AU NM_022450 exon15 c.5460+85insCC 1 1 0.9997 1 Uncertain 16_113887_C->- 16 113887 113887 C - indel 6869.73 1/1 99 183 0 183 1.0 intronic rs11285099 RHBDF1 AU NM_022450 exon15 c.5460+89delC 1 1 0.9998 1 Uncertain 16_114089_C->T 16 114089 114089 C T snp 193.77 0/1 99 20 13 7 0.35 intronic rs60334577 RHBDF1 AU NM_022450 exon15 c.5460+291C>T 0.0844649 0.126 Uncertain 16_114535_A->G 16 114535 114535 A G snp 312.77 0/1 99 19 8 11 0.58 intronic rs2562147 RHBDF1 AU NM_022450 exon16 c.6358-161A>G 0.734225 0.75 Uncertain 16_115185_C->T 16 115185 115185 C T snp 745.77 0/1 99 47 22 25 0.53 intronic rs1366553 RHBDF1 AU NM_022450 exon17 c.6699+148C>T 0.0888578 0.12 Uncertain 16_128176_C->T 16 128176 128176 C T snp 162.77 0/1 99 21 10 11 0.52 UTR5 rs76079375 MPG AU 0.221645 0.1131 Uncertain 16_128179_T->C 16 128179 128179 T C snp 201.77 0/1 99 21 10 11 0.52 UTR5 rs2562162 MPG AU 0.8752 0.7431 Uncertain 16_129223_C->T 16 129223 129223 C T snp 997.77 0/1 99 63 29 34 0.54 UTR5 rs710079 MPG AU 0.291134 0.1141 0.197985 Uncertain 16_129266_-->T 16 129266 129266 - T indel 2170.73 0/1 99 118 53 65 0.55 UTR5 rs2234890 MPG AU 0.144169 0.1141 0.067650 0.1095 0.1708 Uncertain 16_129277_A->G 16 129277 129277 A G snp 1825.77 0/1 99 143 69 74 0.52 UTR5 rs710080 MPG AU 0.291134 0.1141 0.214219 0.1977 0.2168 Uncertain 16_129654_C->T 16 129654 129654 C T snp 1149.77 0/1 99 104 56 48 0.46 exonic rs710081 MPG AU synonymous SNV NM_002434 exon3 c.C270T p.F90F 0.249401 0.1091 0.169639 0.1658 0.1949 Uncertain 16_136888_T->C 16 136888 136888 T C snp 712.77 0/1 99 69 39 30 0.43 intronic rs743725 NPRL3 AU NM_001039476 exon1 c.166+19T>C 0.726238 0.7093 0.757094 0.8027 0.7305 Uncertain 16_138772_-->G 16 138772 138772 - G indel 4374.73 1/1 99 104 0 104 1.0 exonic rs397815833 NPRL3 AU unknown 1 1 1.0000 1 ID=COSM967167,COSM967168;OCCURENCE=1(endometrium) Uncertain 16_142825_T->C 16 142825 142825 T C snp 276.77 0/1 94 13 4 9 0.69 intronic rs2541618 NPRL3 AU NM_001039476 exon4 c.6020+102T>C 0.805312 0.7113 Uncertain 16_150695_C->T 16 150695 150695 C T snp 174.9 1/1 15 5 0 5 1.0 intronic rs2256153 NPRL3 AU NM_001039476 exon7 c.13804+188C>T 0.834065 0.748 Uncertain 16_160668_T->C 16 160668 160668 T C snp 1152.77 1/1 84 35 0 35 1.0 intronic rs808892 NPRL3 AU NM_001039476 exon8 c.23901+64T>C 0.852636 0.745 Uncertain 16_175076_A->- 16 175076 175076 A - indel 64.73 0/1 91 23 10 13 0.57 splicing rs61016911 NPRL3 AU NM_001243247 exon12 c.38369+4delA Pathogenic 16_180529_G->A 16 180529 180529 G A snp 1143.77 0/1 99 86 34 52 0.6 exonic rs75187722 NPRL3 AU unknown 0.0291534 0.0744 0.008662 0.0245 0.1386 Uncertain 16_188331_G->A 16 188331 188331 G A snp 198.8 0/1 21 11 2 9 0.82 UTR5 rs146357256 NPRL3 AU 0.0295527 0.0754 Uncertain 16_204247_T->G 16 204247 204247 T G snp 90.28 1/1 9 3 0 3 1.0 intronic rs71382264 HBZ AU NM_005332 exon3 c.1362-23T>G 0.25 . Uncertain 16_213329_A->G 16 213329 213329 A G snp 93.28 1/1 9 6 0 6 1.0 intergenic rs2885589 HBZ AU 0.735024 0.7054 Uncertain 16_216190_-->G 16 216190 216190 - G indel 4814.73 1/1 99 134 0 134 1.0 intronic rs11431675 HBM AU NM_001003938 exon2 c.270-76insG 0.792931 0.7361 Uncertain 16_223706_A->G 16 223706 223706 A G snp 2311.77 1/1 99 73 0 73 1.0 UTR3 rs2541640 HBA2 AU,AD 0.997005 1 Uncertain 16_223735_A->G 16 223735 223735 A G snp 1314.77 1/1 99 38 0 38 1.0 downstream rs2685121 HBA2 AU,AD 0.933906 1 ID=CR042844;DIS=Haemoglobin variant;TAG=R;PUB=15365991 R Uncertain 16_257932_C->T 16 257932 257932 C T snp 226.77 0/1 99 18 8 10 0.56 intronic LUC7L AU NM_018032 exon6 c.18114-144C>T Uncertain 16_277458_G->A 16 277458 277458 G A snp 133.03 1/1 12 4 0 4 1.0 intronic rs1203974 LUC7L AU NM_018032 exon8 c.37373+123G>A 0.578075 0.5427 Uncertain 16_284833_T->G 16 284833 284833 T G snp 1777.77 1/1 99 56 0 56 1.0 UTR5 rs7202423 ITFG3 AU 1 1 Uncertain 16_322934_C->T 16 322934 322934 C T snp 2073.77 1/1 99 78 0 78 1.0 splicing rs9940585 RGS11 AU NM_183337 exon9 c.3663+4C>T 0.551917 0.6637 0.498918 0.6596 0.7090 Pathogenic 16_323102_C->T 16 323102 323102 C T snp 478.77 0/1 99 28 7 21 0.75 intronic rs116973511 RGS11 AU NM_183337 exon9 c.3663+172C>T 0.0628994 0.0962 Uncertain 16_324030_-->G 16 324030 324030 - G indel 1495.73 1/1 99 48 0 48 1.0 intronic rs112344350 RGS11 AU NM_183337 exon12 c.4775-12insG 0.346645 0.3661 0.243404 0.2691 0.4070 Uncertain 16_324052_A->G 16 324052 324052 A G snp 1696.77 1/1 99 60 0 60 1.0 exonic rs2685126 RGS11 AU synonymous SNV NM_001286485 exon5 c.T387C p.D129D 0.738419 0.627 0.727688 0.6979 0.6949 Uncertain 16_324479_C->G 16 324479 324479 C G snp 48.74 1/1 6 2 0 2 1.0 intronic rs3752435 RGS11 AU NM_183337 exon13 c.4998+214C>G 0.219249 0.2014 Uncertain 16_325732_-->G 16 325732 325732 - G indel 189.87 1/1 15 5 0 5 1.0 intronic rs202190256 RGS11 AU NM_003834 exon17 c.6570-105insG 0.997404 0.996 Uncertain 16_325772_T->- 16 325772 325772 T - indel 324.75 1/1 24 8 0 8 1.0 intronic rs111978133 RGS11 AU NM_003834 exon17 c.6570-65delT 1 1 Uncertain 16_325943_-->G 16 325943 325943 - G indel 731.73 1/1 51 18 0 18 1.0 UTR5 rs377164182 RGS11 AU 0.996805 0.994 0 . Uncertain 16_330678_G->A 16 330678 330678 G A snp 185.9 1/1 15 6 0 6 1.0 UTR5 rs368146102 ARHGDIG AU 0.999601 1 1 1 Uncertain 16_332559_G->- 16 332559 332559 G - indel 699.74 1/1 30 31 3 28 0.9 intronic rs61572786 ARHGDIG AU NM_001176 exon5 c.1850+29delG 0.731629 0.5933 0.7493 0.6717 Uncertain 16_336660_G->A 16 336660 336660 G A snp 7265.77 1/1 99 250 0 250 1.0 exonic rs11647490 PDIA2 AU synonymous SNV NM_006849 exon9 c.G1347A p.T449T 0.589856 0.8085 0.507888 0.6134 0.7684 Uncertain 16_419283_-->G 16 419283 419283 - G indel 1548.73 1/1 99 43 0 43 1.0 intronic rs11434190 MRPL28 AU NM_006428 exon4 c.1546+63insG 1 1 Uncertain 16_420242_G->A 16 420242 420242 G A snp 186.77 0/1 99 12 6 6 0.5 intronic MRPL28 AU NM_006428 exon5 c.2551+17G>A Uncertain 16_449162_T->C 16 449162 449162 T C snp 1307.77 1/1 96 41 0 41 1.0 intronic rs7185254 NME4 AU NM_001286436 exon2 c.15+39T>C 0.430511 0.378 0.429485 0.4261 0.3815 Uncertain 16_449178_T->G 16 449178 449178 T G snp 1263.77 1/1 93 36 0 36 1.0 intronic rs2363759 NME4 AU NM_001286436 exon2 c.15+55T>G 0.430112 0.378 Uncertain 16_449345_G->C 16 449345 449345 G C snp 4250.77 1/1 99 164 0 164 1.0 intronic rs763151 NME4 AU NM_001286436 exon3 c.270-33G>C 0.478435 0.3948 0.474312 0.4400 0.3851 Uncertain 16_449554_G->C 16 449554 449554 G C snp 4656.77 1/1 99 180 0 180 1.0 intronic rs2071914 NME4 AU NM_001286436 exon4 c.518-72G>C 0.121805 0.2242 Uncertain 16_449659_G->A 16 449659 449659 G A snp 4577.77 1/1 99 173 0 173 1.0 exonic rs14293 NME4 AU synonymous SNV NM_001286433 exon3 c.G258A p.S86S 0.441893 0.3671 0.449016 0.4277 0.3668 0.999 P -0.974 T Likely benign 16_449934_T->C 16 449934 449934 T C snp 139.03 1/1 12 4 0 4 1.0 intronic rs11863625 NME4 AU NM_001286435 exon5 c.2886-174T>C 0.469848 0.3492 Uncertain 16_449980_C->T 16 449980 449980 C T snp 1105.77 1/1 84 31 0 31 1.0 intronic rs28394836 NME4 AU NM_001286435 exon5 c.2886-128C>T 0.44349 0.3472 Uncertain 16_450165_T->C 16 450165 450165 T C snp 6687.77 1/1 99 249 0 249 1.0 exonic rs448063 NME4 AU nonsynonymous SNV NM_001286435 exon5 c.T497C p.I166T 0.566693 0.4087 0.4973 0.4191 Pathogenic 16_450309_C->T 16 450309 450309 C T snp 1912.77 1/1 99 65 0 65 1.0 exonic rs5841 NME4 AU synonymous SNV NM_001286433 exon4 c.C429T p.D143D 0.414137 0.3423 0.416987 0.4126 0.3419 Uncertain 16_455497_G->C 16 455497 455497 G C snp 1756.77 1/1 99 63 0 63 1.0 intronic rs12448825 DECR2 AU NM_020664 exon2 c.3061+473G>C 0.117612 0.2073 0.0957 0.2068 Uncertain 16_456239_-->C 16 456239 456239 - C indel 2597.73 1/1 99 65 0 65 1.0 intronic rs11391097 DECR2 AU NM_020664 exon3 c.4382-106insC 1 1 Uncertain 16_456291_-->C 16 456291 456291 - C indel 4149.73 1/1 99 112 0 112 1.0 intronic rs11391098 DECR2 AU NM_020664 exon3 c.4382-54insC Uncertain 16_456429_G->A 16 456429 456429 G A snp 2488.77 1/1 99 93 0 93 1.0 intronic rs3826231 DECR2 AU NM_020664 exon3 c.4434+32G>A 0.116813 0.2093 0.103061 0.1022 0.2005 Uncertain 16_456483_T->C 16 456483 456483 T C snp 1351.77 1/1 99 44 0 44 1.0 intronic rs3785290 DECR2 AU NM_020664 exon3 c.4434+86T>C 0.620407 0.6815 Uncertain 16_460420_G->A 16 460420 460420 G A snp 675.77 0/1 99 51 18 33 0.65 intronic rs779472210 DECR2 AU NM_020664 exon5 c.8404+53G>A 9.325e-05 0 Uncertain 16_460673_G->A 16 460673 460673 G A snp 277.8 1/1 21 12 0 12 1.0 intronic rs3743895 DECR2 AU NM_020664 exon6 c.8727-17G>A 0.11222 0.2063 0.094825 0.1622 0.2954 Uncertain 16_461762_T->C 16 461762 461762 T C snp 139.03 1/1 12 4 0 4 1.0 intronic rs1204504 DECR2 AU NM_020664 exon9 c.9926-127T>C 0.616414 0.5298 Uncertain 16_524962_ATT->- 16 524962 524964 ATT - indel 3252.73 1/1 99 51 0 51 1.0 UTR5 rs3837776 RAB11FIP3 AU 0.0966454 0.2073 0.072187 Uncertain 16_532248_A->G 16 532248 532248 A G snp 345.78 1/1 27 10 0 10 1.0 intronic rs9935319 RAB11FIP3 AU NM_001142272 exon2 c.7494-276A>G 0.506789 0.4593 Uncertain 16_538720_-->C 16 538720 538720 - C indel 603.73 1/1 35 18 1 17 0.94 intronic rs11371105 RAB11FIP3 AU NM_001142272 exon3 c.13820-130insC 0.172524 0.2034 Uncertain 16_539088_-->AA 16 539088 539088 - AA indel 2361.73 1/1 99 46 0 46 1.0 intronic rs3830847 RAB11FIP3 AU NM_001142272 exon3 c.13970+88insAA 0.408946 0.2708 Uncertain 16_539140_C->A 16 539140 539140 C A snp 298.78 1/1 24 10 0 10 1.0 intronic rs2038227 RAB11FIP3 AU NM_001142272 exon3 c.13970+140C>A 0.562899 0.4623 Uncertain 16_547297_T->C 16 547297 547297 T C snp 4117.77 1/1 99 150 0 150 1.0 intronic rs2301487 RAB11FIP3 AU NM_001142272 exon4 c.21829+438T>C 0.132188 0.3393 0.0639 0.3238 0 D 0.0 P -0.983 T Uncertain 16_547530_C->T 16 547530 547530 C T snp 139.03 1/1 12 4 0 4 1.0 intronic rs11866247 RAB11FIP3 AU NM_001142272 exon4 c.21829+671C>T 0.11861 0.3413 Uncertain 16_560962_A->C 16 560962 560962 A C snp 254.8 1/1 21 9 0 9 1.0 intronic rs7195485 RAB11FIP3 AU NM_001142272 exon7 c.35770+162A>C 0.283746 0.3819 Uncertain 16_560965_T->C 16 560965 560965 T C snp 220.84 1/1 18 8 0 8 1.0 intronic rs7201201 RAB11FIP3 AU NM_001142272 exon7 c.35770+165T>C 0.26897 0.372 Uncertain 16_568748_C->A 16 568748 568748 C A snp 419.77 1/1 33 11 0 11 1.0 intronic rs9934705 RAB11FIP3 AU NM_001142272 exon8 c.43912-194C>A 0.322883 0.4097 Uncertain 16_570454_T->C 16 570454 570454 T C snp 1853.77 1/1 99 57 0 57 1.0 splicing rs11863276 RAB11FIP3 AU NM_001142272 exon11 c.45428-4T>C 0.791534 0.9911 0.616059 0.6597 0.9946 Pathogenic 16_570557_T->C 16 570557 570557 T C snp 5594.77 1/1 99 198 1 197 0.99 exonic rs11537754 RAB11FIP3 AU synonymous SNV NM_001142272 exon11 c.T1227C p.S409S 0.790935 0.9911 0.614598 0.6590 0.9945 Uncertain 16_601632_T->C 16 601632 601632 T C snp 3667.77 1/1 99 131 0 131 1.0 exonic rs3213574 CAPN15 AU synonymous SNV NM_005632 exon9 c.T2313C p.G771G 0.717252 0.7788 0.609760 0.6296 0.7857 Uncertain 16_601914_G->A 16 601914 601914 G A snp 926.77 1/1 66 35 0 35 1.0 intronic rs12449064 CAPN15 AU NM_005632 exon10 c.5212-136G>A 0.533546 0.3909 Uncertain 16_602046_T->C 16 602046 602046 T C snp 1021.77 1/1 72 41 0 41 1.0 splicing rs7196821 CAPN15 AU NM_005632 exon10 c.5212-4T>C 0.975839 1 0.943501 0.9530 1 Pathogenic 16_602313_C->A 16 602313 602313 C A snp 5861.77 1/1 99 206 0 206 1.0 exonic rs9930550 CAPN15 AU synonymous SNV NM_005632 exon11 c.C2520A p.A840A 0.635184 0.8393 0.433190 0.6129 0.8497 Uncertain 16_604554_T->C 16 604554 604554 T C snp 2021.77 1/1 99 66 0 66 1.0 UTR3 rs7763 CAPN15 AU 0.479034 0.8105 0.3457 0.8069 Uncertain 16_613168_A->G 16 613168 613168 A G snp 79.77 0/1 99 8 3 5 0.63 intronic rs12597975 PRR35 AU 0.606629 0.63 Uncertain 16_615326_T->C 16 615326 615326 T C snp 360.77 0/1 99 39 22 17 0.44 UTR3 rs59985111 PRR35 AU 0.493211 0.627 0.370538 0.5433 0.6320 Uncertain 16_622565_A->G 16 622565 622565 A G snp 1992.77 0/1 99 187 101 86 0.46 intronic rs12917944 PIGQ AU 0.53155 0.6359 0.5504 0.6667 Uncertain 16_624114_A->G 16 624114 624114 A G snp 2886.77 0/1 99 242 115 127 0.52 exonic rs2071979 PIGQ AU nonsynonymous SNV NM_004204 exon2 c.A40G p.T14A 0.531949 0.6359 0.431780 0.4908 0.6220 0.75 T 0.0 P -0.968 T 0.001 T 0.0 T Pathogenic 16_624713_C->T 16 624713 624713 C T snp 990.77 0/1 99 86 43 43 0.5 exonic rs4984669 PIGQ AU synonymous SNV NM_004204 exon2 c.C639T p.C213C 0.536542 0.6349 0.430787 0.5018 0.6242 Uncertain 16_628302_A->G 16 628302 628302 A G snp 228.77 0/1 97 10 3 7 0.7 intronic rs3752568 PIGQ AU NM_004204 exon5 c.4304-76A>G 0.532149 0.6369 Uncertain 16_628995_GGGC->- 16 628995 628998 GGGC - indel 1057.73 0/1 99 56 23 33 0.59 intronic rs113780855 PIGQ AU NM_004204 exon6 c.4864+57_4864+60delGGGC 0.532348 0.6359 Uncertain 16_629006_C->T 16 629006 629006 C T snp 598.77 0/1 99 40 21 19 0.47 intronic rs59476302 PIGQ AU NM_004204 exon7 c.4994-62C>T 0.532348 0.6359 Uncertain 16_630025_C->G 16 630025 630025 C G snp 135.03 1/1 12 4 0 4 1.0 intronic rs2071981 PIGQ AU NM_004204 exon8 c.6108-157C>G 0.535343 0.6359 Uncertain 16_630089_C->T 16 630089 630089 C T snp 418.77 0/1 99 24 10 14 0.58 intronic rs7191939 PIGQ AU NM_004204 exon8 c.6108-93C>T 0.524161 0.6359 Uncertain 16_630367_C->T 16 630367 630367 C T snp 442.77 0/1 99 32 17 15 0.47 intronic rs7192508 PIGQ AU NM_004204 exon8 c.6189+104C>T 0.531749 0.6359 Uncertain 16_630405_T->G 16 630405 630405 T G snp 152.77 0/1 99 12 7 5 0.42 intronic rs2071982 PIGQ AU NM_004204 exon8 c.6189+142T>G 0.531749 0.6359 Uncertain 16_630710_A->G 16 630710 630710 A G snp 80.77 0/1 30 4 1 3 0.75 intronic rs1981484 PIGQ AU NM_004204 exon9 c.6783-147A>G 0.535144 0.6359 Uncertain 16_632051_T->C 16 632051 632051 T C snp 272.77 0/1 99 16 6 10 0.63 intronic rs2018789 PIGQ AU NM_004204 exon10 c.8173-196T>C 0.528954 0.6369 0.5060 0.6481 Uncertain 16_632073_C->T 16 632073 632073 C T snp 429.77 0/1 99 25 9 16 0.64 intronic rs916414 PIGQ AU NM_004204 exon10 c.8173-174C>T 0.528954 0.6369 0.5328 0.6527 Uncertain 16_632115_G->A 16 632115 632115 G A snp 584.77 0/1 99 45 20 25 0.56 intronic rs916415 PIGQ AU NM_004204 exon10 c.8173-132G>A 0.528954 0.6369 0.5260 0.6399 Uncertain 16_632138_C->T 16 632138 632138 C T snp 803.77 0/1 99 59 26 33 0.56 intronic rs4262946 PIGQ AU NM_004204 exon10 c.8173-109C>T 0.449281 0.628 0.4862 0.6101 Uncertain 16_632180_G->C 16 632180 632180 G C snp 1207.77 0/1 99 94 43 51 0.54 intronic rs4984897 PIGQ AU NM_004204 exon10 c.8173-67G>C 0.528754 0.6369 0.5068 0.5933 Uncertain 16_632198_T->A 16 632198 632198 T A snp 1262.77 0/1 99 104 47 57 0.55 intronic rs916416 PIGQ AU NM_004204 exon10 c.8173-49T>A 0.528954 0.6369 0.401740 0.5163 0.6017 Uncertain 16_632225_T->C 16 632225 632225 T C snp 1343.77 0/1 99 111 53 58 0.52 intronic rs4006748 PIGQ AU NM_004204 exon10 c.8173-22T>C 0.528754 0.6369 0.395237 0.5179 0.6145 Uncertain 16_632231_G->- 16 632231 632231 G - indel 1945.73 0/1 99 114 56 58 0.51 intronic rs67976359 PIGQ AU NM_004204 exon10 c.8173-16delG 0.521765 0.626 0.413207 0.5140 0.6180 Uncertain 16_632233_T->C 16 632233 632233 T C snp 1206.77 0/1 99 115 57 58 0.5 intronic rs62030874 PIGQ AU NM_004204 exon10 c.8173-14T>C 0.526358 0.6339 0.5131 0.6189 Uncertain 16_633125_T->C 16 633125 633125 T C snp 2170.77 0/1 99 180 88 92 0.51 UTR3 rs1045277 PIGQ AU 0.530751 0.6369 0.430242 0.4907 0.6248 0.000 P -0.983 T 0.0 T 0.0 T Uncertain 16_633353_T->C 16 633353 633353 T C snp 1439.77 0/1 99 110 53 57 0.52 UTR3 rs710924 PIGQ AU 0.530551 0.6379 0.409448 0.4911 0.6250 0.000 P -0.954 T 0.0 T 0.0 T Uncertain 16_633354_G->A 16 633354 633354 G A snp 1461.77 0/1 99 111 55 56 0.5 UTR3 rs710925 PIGQ AU 0.530152 0.6369 0.409126 0.4909 0.6249 0.0 P -0.920 T 0.013 T 0.018 T Uncertain 16_633764_G->A 16 633764 633764 G A snp 1554.77 0/1 99 127 69 58 0.46 UTR3 rs8642 PIGQ AU 0.303115 0.6042 0.3849 0.6525 Uncertain 16_633843_A->G 16 633843 633843 A G snp 739.77 0/1 99 55 26 29 0.53 UTR3 rs8675 PIGQ AU 0.521765 0.6379 Uncertain 16_633851_T->C 16 633851 633851 T C snp 660.77 0/1 99 53 25 28 0.53 UTR3 rs8909 PIGQ AU 0.521366 0.6359 Uncertain 16_646421_A->G 16 646421 646421 A G snp 777.77 0/1 99 43 16 27 0.63 intronic rs4984672 RAB40C AU NM_021168 exon1 c.142+5988A>G 0.366214 0.5992 Uncertain 16_668443_A->G 16 668443 668443 A G snp 312.77 0/1 99 16 5 11 0.69 intronic rs34011309 RAB40C AU NM_021168 exon3 c.27969+183A>G 0.538339 0.6488 Uncertain 16_675088_C->- 16 675088 675088 C - indel 1363.73 0/1 99 78 42 36 0.46 intronic rs3838962 RAB40C AU NM_021168 exon4 c.35140-343delC 0.359425 0.6151 0.3133 0.6449 Uncertain 16_675215_G->A 16 675215 675215 G A snp 279.77 0/1 99 25 15 10 0.4 intronic rs2269556 RAB40C AU NM_021168 exon4 c.35140-216G>A 0.367013 0.622 Uncertain 16_677629_T->C 16 677629 677629 T C snp 1475.77 0/1 99 117 59 58 0.5 UTR3 rs2269557 RAB40C AU 0.359625 0.6141 0.228657 0.3176 0.6097 Uncertain 16_679814_T->C 16 679814 679814 T C snp 2046.77 1/1 99 67 0 67 1.0 downstream rs12447874 RAB40C AU 1 1 1 1 Uncertain 16_680574_G->A 16 680574 680574 G A snp 41.77 0/1 70 4 2 2 0.5 upstream rs34938804 WFIKKN1 AU 0.316693 0.619 Uncertain 16_681280_G->T 16 681280 681280 G T snp 570.77 0/1 99 41 18 23 0.56 exonic rs4984905 WFIKKN1 AU synonymous SNV NM_053284 exon1 c.G27T p.P9P 0.313299 0.62 0.175796 0.4087 0.6820 Uncertain 16_682442_A->C 16 682442 682442 A C snp 30.77 0/1 59 7 5 2 0.29 intronic rs2269560 WFIKKN1 AU NM_053284 exon2 c.1328-139A>C 0.536941 0.6577 Uncertain 16_682566_T->C 16 682566 682566 T C snp 1430.77 0/1 99 133 74 59 0.44 intronic rs2269561 WFIKKN1 AU NM_053284 exon2 c.1328-15T>C 0.322284 0.621 0.178527 0.3428 0.6331 Uncertain 16_688557_A->C 16 688557 688557 A C snp 451.77 0/1 99 21 6 15 0.71 intergenic rs34409359 C16orf13 AU 0.482428 0.627 0.4432 0.6769 Uncertain 16_699456_A->G 16 699456 699456 A G snp 809.77 1/1 60 25 0 25 1.0 intronic rs12934086 WDR90 AU NM_145294 exon1 c.10+30A>G 0.690296 0.9841 0.345113 0.6024 0.9773 Uncertain 16_700970_C->T 16 700970 700970 C T snp 3444.77 1/1 99 120 0 120 1.0 intronic rs2076142 WDR90 AU NM_145294 exon6 c.1578-24C>T 0.394169 0.6806 0.226948 0.3339 0.6665 Uncertain 16_701296_G->C 16 701296 701296 G C snp 1043.77 1/1 78 33 0 33 1.0 intronic rs2076143 WDR90 AU NM_145294 exon7 c.1850+30G>C 0.396166 0.6815 0.228903 0.3309 0.6536 Uncertain 16_701303_C->T 16 701303 701303 C T snp 975.77 1/1 72 32 0 32 1.0 intronic rs2076144 WDR90 AU NM_145294 exon7 c.1850+37C>T 0.340655 0.6736 0.185290 0.3160 0.6487 Uncertain 16_701656_C->T 16 701656 701656 C T snp 2202.77 1/1 99 74 0 74 1.0 exonic rs11642546 WDR90 AU nonsynonymous SNV NM_145294 exon8 c.C749T p.P250L 0.399361 0.6796 0.231837 0.3347 0.6646 0.45 T 0.0 P -0.943 T 0.53 P 0.036 P Pathogenic 16_702677_C->G 16 702677 702677 C G snp 1338.77 1/1 96 40 0 40 1.0 intronic rs2072879 WDR90 AU NM_145294 exon10 c.3119+142C>G 0.341653 0.6776 Uncertain 16_703721_A->C 16 703721 703721 A C snp 7071.77 1/1 99 250 0 250 1.0 intronic rs9936879 WDR90 AU NM_145294 exon13 c.4329-24A>C 0.705272 0.9841 0.517669 0.5250 0.9904 Uncertain 16_705360_T->C 16 705360 705360 T C snp 3941.77 1/1 99 140 0 140 1.0 exonic rs3803697 WDR90 AU nonsynonymous SNV NM_145294 exon15 c.T1610C p.V537A 0.696685 0.9841 0.495190 0.5282 0.9879 0.8 T 0.0 P -1.019 T 0.001 T 0.001 T Pathogenic 16_705844_T->C 16 705844 705844 T C snp 3630.77 1/1 99 122 0 122 1.0 exonic rs8051645 WDR90 AU synonymous SNV NM_145294 exon17 c.T1921C p.L641L 0.693091 0.9841 0.495638 0.5750 0.9874 Uncertain 16_705920_G->C 16 705920 705920 G C snp 2103.77 1/1 99 79 0 79 1.0 intronic rs9930754 WDR90 AU NM_145294 exon17 c.6473+31G>C 0.394169 0.6746 0.223454 0.3827 0.6771 Uncertain 16_706010_-->A 16 706010 706010 - A indel 981.73 1/1 72 24 0 24 1.0 intronic rs35582942 WDR90 AU NM_145294 exon17 c.6473+121insA 0.692492 0.9841 0.5820 0.9950 ID=COSN228762;OCCURENCE=1(skin) Uncertain 16_706067_G->A 16 706067 706067 G A snp 188.9 1/1 15 9 0 9 1.0 intronic rs9932866 WDR90 AU NM_145294 exon17 c.6473+178G>A 0.693091 0.9841 0.6095 1 Uncertain 16_706534_G->A 16 706534 706534 G A snp 1625.77 1/1 99 63 0 63 1.0 exonic rs28485323 WDR90 AU synonymous SNV NM_145294 exon18 c.G2199A p.Q733Q 0.389177 0.6756 0.219899 0.3826 0.6769 Uncertain 16_706668_G->A 16 706668 706668 G A snp 3887.77 1/1 99 139 0 139 1.0 intronic rs34775748 WDR90 AU NM_145294 exon19 c.7315-63G>A 0.320487 0.6736 Uncertain 16_707034_A->C 16 707034 707034 A C snp 985.77 1/1 72 35 0 35 1.0 intronic rs6600228 WDR90 AU NM_145294 exon20 c.7674-56A>C 0.688898 0.9802 Uncertain 16_707295_T->G 16 707295 707295 T G snp 555.77 1/1 42 16 0 16 1.0 intronic rs6600229 WDR90 AU NM_145294 exon20 c.7805+74T>G 0.658946 0.9871 Uncertain 16_707748_C->T 16 707748 707748 C T snp 1307.77 1/1 96 43 0 43 1.0 intronic rs36022186 WDR90 AU NM_145294 exon21 c.8345-13C>T 0.342452 0.6786 0.159975 0.3609 0.7033 Uncertain 16_708071_G->C 16 708071 708071 G C snp 1765.77 1/1 99 53 0 53 1.0 intronic rs2071831 WDR90 AU NM_145294 exon22 c.8766-111G>C 0.378195 0.6766 Uncertain 16_708275_C->A 16 708275 708275 C A snp 4825.77 1/1 99 173 0 173 1.0 exonic rs45613635 WDR90 AU nonsynonymous SNV NM_145294 exon22 c.C2697A p.H899Q 0.340855 0.6766 0.188634 0.3211 0.6648 0.6 T 1.000 P -0.941 T 0.996 D 0.898 D Pathogenic 16_708419_T->C 16 708419 708419 T C snp 2116.77 1/1 99 74 0 74 1.0 intronic rs7188691 WDR90 AU NM_145294 exon22 c.8928+75T>C 0.700879 0.9841 Uncertain 16_709001_C->A 16 709001 709001 C A snp 3470.77 1/1 99 124 0 124 1.0 exonic rs4984906 WDR90 AU nonsynonymous SNV NM_145294 exon24 c.C3001A p.P1001T 0.703474 0.9802 0.512908 0.5223 0.9827 0.69 T 0.0 P -1.013 T 0.0 T 0.0 T Pathogenic 16_709157_T->C 16 709157 709157 T C snp 5717.77 1/1 99 214 0 214 1.0 intronic rs7194532 WDR90 AU NM_145294 exon25 c.9710+31T>C 0.699681 0.9841 0.489710 0.5219 0.9876 Uncertain 16_710473_T->C 16 710473 710473 T C snp 264.8 1/1 21 7 0 7 1.0 intronic rs3752495 WDR90 AU NM_145294 exon28 c.11195-138T>C 0.700879 0.9841 Uncertain 16_711016_G->C 16 711016 711016 G C snp 62.74 1/1 6 4 0 4 1.0 intronic rs76032962 WDR90 AU NM_145294 exon29 c.11634-34G>C 0.1184 . Uncertain 16_711326_G->C 16 711326 711326 G C snp 1140.77 1/1 87 35 0 35 1.0 intronic rs9932282 WDR90 AU NM_145294 exon30 c.11925-15G>C 0.698482 0.9841 0.494767 0.5270 0.9876 Uncertain 16_711546_G->- 16 711546 711546 G - indel 5226.73 1/1 99 181 0 181 1.0 intronic rs11284424 WDR90 AU NM_145294 exon30 c.12085+45delG 0.690096 0.9841 0.5254 0.9879 Uncertain 16_711572_C->T 16 711572 711572 C T snp 4506.77 1/1 99 167 0 167 1.0 intronic rs8062682 WDR90 AU NM_145294 exon31 c.12180-24C>T 0.342053 0.6766 0.185532 0.3230 0.6634 Uncertain 16_711582_C->G 16 711582 711582 C G snp 4667.77 1/1 99 163 0 163 1.0 intronic rs8062685 WDR90 AU NM_145294 exon31 c.12180-14C>G 0.698283 0.9841 0.484839 0.5239 0.9873 Uncertain 16_711712_C->T 16 711712 711712 C T snp 5234.77 1/1 99 191 0 191 1.0 exonic rs3177415 WDR90 AU synonymous SNV NM_145294 exon31 c.C3789T p.G1263G 0.698283 0.9841 0.487555 0.5208 0.9879 Uncertain 16_711905_A->G 16 711905 711905 A G snp 4484.77 1/1 99 167 0 167 1.0 exonic rs2301426 WDR90 AU synonymous SNV NM_145294 exon32 c.A3879G p.P1293P 0.699081 0.9841 0.487486 0.5200 0.9879 Uncertain 16_712127_A->G 16 712127 712127 A G snp 2364.77 1/1 99 81 0 81 1.0 intronic rs10903018 WDR90 AU NM_145294 exon32 c.12643+68A>G 1 1 Uncertain 16_712154_G->A 16 712154 712154 G A snp 2844.77 1/1 99 105 0 105 1.0 intronic rs11248943 WDR90 AU NM_145294 exon33 c.12803-65G>A 0.342252 0.6776 Uncertain 16_712867_A->G 16 712867 712867 A G snp 4647.77 1/1 99 163 1 162 0.99 intronic rs1057835 WDR90 AU NM_145294 exon34 c.13428+23A>G 0.698482 0.9841 0.471268 0.5268 0.9846 Uncertain 16_713204_A->G 16 713204 713204 A G snp 331.78 1/1 27 10 1 9 0.9 intronic rs9929652 WDR90 AU NM_145294 exon34 c.13428+360A>G 0.669329 0.9841 Uncertain 16_713210_G->A 16 713210 713210 G A snp 218.84 1/1 18 6 0 6 1.0 intronic rs9937980 WDR90 AU NM_145294 exon34 c.13428+366G>A 0.698482 0.9841 Uncertain 16_715847_A->G 16 715847 715847 A G snp 920.77 1/1 69 27 0 27 1.0 intronic rs3752494 WDR90 AU NM_145294 exon35 c.16385+46A>G 0.702676 0.9841 0.468819 0.5252 0.9880 Uncertain 16_715990_G->A 16 715990 715990 G A snp 1531.77 1/1 99 51 0 51 1.0 exonic rs7190775 WDR90 AU nonsynonymous SNV NM_145294 exon36 c.G4475A p.R1492H 0.701078 0.9841 0.475357 0.5242 0.9878 0.16 T 0.0 P -0.951 T 0.169 T 0.025 T Pathogenic 16_716428_G->A 16 716428 716428 G A snp 6835.77 1/1 99 226 1 225 1.0 intronic rs3743909 WDR90 AU NM_145294 exon38 c.17038-26G>A 0.70008 0.9841 0.486602 0.5201 0.9881 Uncertain 16_717057_T->C 16 717057 717057 T C snp 2120.77 1/1 99 71 0 71 1.0 intronic rs7189028 WDR90 AU NM_145294 exon40 c.17573+68T>C 0.701078 0.9841 Uncertain 16_717085_C->T 16 717085 717085 C T snp 1386.77 1/1 99 39 0 39 1.0 intronic rs7197072 WDR90 AU NM_145294 exon40 c.17573+96C>T 0.341054 0.6627 Uncertain 16_717523_G->T 16 717523 717523 G T snp 3041.77 1/1 99 100 0 100 1.0 exonic rs3752493 WDR90 AU synonymous SNV NM_145294 exon41 c.G5181T p.P1727P 0.70028 0.9841 0.499764 0.5199 0.9877 0 D 0.999 P -0.999 T Likely benign 16_717828_G->T 16 717828 717828 G T snp 2310.77 1/1 99 79 0 79 1.0 UTR3 rs3752490 WDR90 AU 0.702077 0.9841 0.5570 0.9762 Uncertain 16_720041_C->T 16 720041 720041 C T snp 211.84 1/1 18 8 0 8 1.0 intronic rs3752489 RHOT2 AU NM_138769 exon6 c.1923-81C>T 0.338259 0.6875 Uncertain 16_720986_G->A 16 720986 720986 G A snp 4536.77 1/1 99 155 1 154 0.99 exonic rs1139897 RHOT2 AU nonsynonymous SNV NM_138769 exon10 c.G734A p.R245Q 0.326478 0.6845 0.170886 0.3261 0.6891 0.02 T 0.047 P -1.097 T 0.449 T 0.074 P Pathogenic 16_721798_-->CCCCTG 16 721798 721798 - CCCCTG indel 4341.73 0/1 99 129 25 104 0.81 intronic rs146789763 RHOT2 AU NM_138769 exon12 c.3582+17insCCCCTG 0.243211 0.3492 0.3202 0.6293 Uncertain 16_722331_C->T 16 722331 722331 C T snp 5169.77 1/1 99 184 0 184 1.0 exonic rs3177338 RHOT2 AU nonsynonymous SNV NM_138769 exon15 c.C1273T p.R425C 0.66853 0.9891 0.477203 0.5154 0.9915 0 D 1.000 P -1.085 T 0.997 D 0.893 D Pathogenic 16_722548_A->G 16 722548 722548 A G snp 4448.77 1/1 99 151 0 151 1.0 exonic rs1128550 RHOT2 AU synonymous SNV NM_138769 exon16 c.A1386G p.G462G 0.709665 0.997 0.508623 0.5261 0.9949 Uncertain 16_723647_C->G 16 723647 723647 C G snp 262.8 1/1 21 7 0 7 1.0 UTR3 rs1045716 RHOT2 AU 0.705072 0.997 0.504705 0.5228 0.9953 Uncertain 16_724084_C->T 16 724084 724084 C T snp 2221.77 1/1 99 82 0 82 1.0 UTR3 rs1045763 RHOT2 AU 0.23143 0.6647 0.1330 0.6571 Uncertain 16_732288_C->- 16 732288 732288 C - indel 10450.7 1/1 99 250 0 250 1.0 UTR3 rs3216838 JMJD8 AU 0.622404 0.7153 0.490572 0.5158 0.7057 Uncertain 16_735794_A->G 16 735794 735794 A G snp 6952.77 1/1 99 240 0 240 1.0 intronic rs11640115 WDR24 AU NM_001303027 exon4 c.1050+11A>G 0.399361 0.7232 0.222966 0.3315 0.6991 Uncertain 16_735921_T->C 16 735921 735921 T C snp 6407.77 1/1 99 234 0 234 1.0 exonic rs763053 WDR24 AU synonymous SNV NM_001303027 exon5 c.A1521G p.A507A 0.502596 0.7123 0.334821 0.3621 0.6906 Uncertain 16_736242_G->A 16 736242 736242 G A snp 289.77 0/1 99 29 16 13 0.45 intronic rs75484841 WDR24 AU NM_001303027 exon6 c.1453+56G>A 0.0123802 0.0575 Uncertain 16_737793_G->A 16 737793 737793 G A snp 5544.77 1/1 99 183 0 183 1.0 intronic rs1018804 WDR24 AU NM_001303027 exon8 c.3006+54G>A 0.502995 0.7292 0.4415 0.7341 Uncertain 16_739693_C->T 16 739693 739693 C T snp 657.77 0/1 99 54 27 27 0.5 UTR5 rs568619454 WDR24 AU 0.000199681 0.001 Uncertain 16_740016_-->AG 16 740016 740016 - AG indel 2498.73 0/1 99 130 70 60 0.46 UTR5 WDR24 AU Uncertain 16_740404_C->G 16 740404 740404 C G snp 5455.77 1/1 99 194 0 194 1.0 UTR5 rs4984682 WDR24 AU 0.44988 0.7163 0.3762 0.65 0 D 0.0 P -0.960 T Uncertain 16_740466_A->G 16 740466 740466 A G snp 6146.77 1/1 99 246 1 245 1.0 upstream rs4984913 WDR24 AU 0.590256 0.7312 0.4249 0.6768 Uncertain 16_746884_A->C 16 746884 746884 A C snp 8193.77 1/1 99 250 0 250 1.0 exonic rs4984683 FBXL16 AU synonymous SNV NM_153350 exon2 c.T522G p.V174V 0.384185 0.7123 0.211494 0.3281 0.7044 Uncertain 16_746914_G->A 16 746914 746914 G A snp 8442.77 1/1 99 249 0 249 1.0 exonic rs4984915 FBXL16 AU synonymous SNV NM_153350 exon2 c.C492T p.A164A 0.383187 0.7123 0.211032 0.3281 0.7044 Uncertain 16_747454_T->C 16 747454 747454 T C snp 1041.77 1/1 75 44 0 44 1.0 intronic rs12922098 FBXL16 AU NM_153350 exon5 c.3145+35T>C 0.384585 0.7123 0.138798 0.3891 0.6792 Uncertain 16_766001_T->G 16 766001 766001 T G snp 1343.77 0/1 99 131 69 62 0.47 intronic rs1076939 METRN AU NM_024042 exon2 c.695+17T>G 0.561701 0.5427 0.325042 0.5502 0.5993 Uncertain 16_766078_A->G 16 766078 766078 A G snp 817.77 0/1 99 69 33 36 0.52 intronic rs66649828 METRN AU NM_024042 exon2 c.695+94A>G 0.516773 0.5387 Uncertain 16_766485_G->A 16 766485 766485 G A snp 612.77 0/1 99 54 31 23 0.43 intronic rs6600231 METRN AU NM_024042 exon3 c.1643-447G>A 0.516973 0.5387 Uncertain 16_767426_-->G 16 767426 767426 - G indel 614.73 0/1 99 47 19 28 0.6 UTR3 rs5815052 METRN AU 0.242153 0.3629 0.6531 Uncertain 16_767430_C->G 16 767430 767430 C G snp 475.77 0/1 99 39 19 20 0.51 UTR3 rs10682 METRN AU 0.491414 0.5298 0.5081 0.6717 Uncertain 16_767519_T->C 16 767519 767519 T C snp 187.77 0/1 60 10 2 8 0.8 downstream rs4589552 METRN AU 0.310903 0.5298 0.3310 0.5625 Uncertain 16_771108_C->A 16 771108 771108 C A snp 32.77 0/1 61 7 5 2 0.29 upstream rs56085648 FAM173A AU 0.494409 0.5248 Uncertain 16_771286_C->T 16 771286 771286 C T snp 259.77 0/1 99 43 30 13 0.3 exonic rs11540049 FAM173A AU synonymous SNV NM_001271285 exon1 c.C12T p.D4D 0.539537 0.5337 0.7524 0.6935 Uncertain 16_771750_T->C 16 771750 771750 T C snp 2776.77 1/1 99 103 0 103 1.0 intronic rs3752555 FAM173A AU NM_023933 exon2 c.428+48T>C 0.687899 0.7798 0.533966 0.6445 0.8100 Uncertain 16_772061_C->T 16 772061 772061 C T snp 3023.77 1/1 99 109 0 109 1.0 intronic rs55956436 FAM173A AU NM_023933 exon4 c.809-22C>T 0.601637 0.7679 0.441103 0.5748 0.8053 Uncertain 16_772141_G->C 16 772141 772141 G C snp 2861.77 1/1 99 103 0 103 1.0 intronic rs11867009 FAM173A AU NM_023933 exon4 c.860+7G>C 0.680911 0.7788 0.514772 0.5878 0.8138 Uncertain 16_772842_T->C 16 772842 772842 T C snp 5652.77 1/1 99 198 0 198 1.0 intronic rs12599130 CCDC78 AD NM_001031737 exon1 c.20+53T>C 0.668331 0.7679 0.513798 0.5839 0.8223 Uncertain 16_773292_C->- 16 773292 773292 C - indel 5186.73 1/1 99 160 0 160 1.0 intronic rs35843452 CCDC78 AD NM_001031737 exon3 c.392+131delC 0.670727 0.7669 0.6212 0.8136 Uncertain 16_773313_-->C 16 773313 773313 - C indel 4760.73 1/1 99 177 1 176 0.99 intronic rs397778204 CCDC78 AD NM_001031737 exon3 c.392+152insC 0.5057 0.7312 Uncertain 16_773341_G->A 16 773341 773341 G A snp 5613.77 1/1 99 198 0 198 1.0 intronic rs4984920 CCDC78 AD NM_001031737 exon3 c.392+180G>A 0.588858 0.7679 0.6280 0.8255 Uncertain 16_774046_GGGGCAGTGGGTGGGTGG->- 16 774046 774063 GGGGCAGTGGGTGGGTGG - indel 7206.73 1/1 99 49 0 49 1.0 intronic rs145548033 CCDC78 AD NM_001031737 exon5 c.1336-59_1336-42delGGGGCAGTGGGTGGGTGG 0.392971 0.7579 Uncertain 16_774520_C->T 16 774520 774520 C T snp 2821.77 1/1 99 94 0 94 1.0 intronic rs4984921 CCDC78 AD NM_001031737 exon6 c.1740+11C>T 0.589657 0.7669 0.421822 0.6080 0.8262 Uncertain 16_774692_A->G 16 774692 774692 A G snp 4269.77 1/1 99 161 0 161 1.0 exonic rs2071950 CCDC78 AD nonsynonymous SNV NM_001031737 exon8 c.T754C p.W252R 0.700879 0.7966 0.535935 0.6039 0.8464 1 T 0.0 P -0.986 T 0.0 T 0.0 T CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000116603.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 16_778024_T->C 16 778024 778024 T C snp 1768.77 1/1 99 67 0 67 1.0 exonic rs1406814 HAGHL AU synonymous SNV NM_032304 exon2 c.T165C p.H55H 0.513978 0.7579 0.309310 0.3898 0.8180 Uncertain 16_778158_C->G 16 778158 778158 C G snp 354.78 1/1 27 11 0 11 1.0 exonic rs1406815 HAGHL AU synonymous SNV NM_032304 exon3 c.C213G p.P71P 0.447284 0.7579 0.4462 0.8365 Uncertain 16_778820_G->A 16 778820 778820 G A snp 4848.77 1/1 99 200 0 200 1.0 exonic rs12448432 HAGHL AU synonymous SNV NM_032304 exon6 c.G525A p.T175T 0.394369 0.7569 0.182022 0.3427 0.8135 1.000 P -0.982 T 0.004 T 0.008 T Likely benign 16_780339_A->G 16 780339 780339 A G snp 2222.77 1/1 99 76 0 76 1.0 UTR3 rs7205337 NARFL AU 0.53734 0.7897 Uncertain 16_781633_G->A 16 781633 781633 G A snp 6057.77 1/1 99 235 0 235 1.0 exonic rs3829492 NARFL AU synonymous SNV NM_022493 exon9 c.C966T p.H322H 0.38099 0.7599 0.156381 0.3782 0.8333 Uncertain 16_781787_C->G 16 781787 781787 C G snp 222.84 1/1 18 6 0 6 1.0 intronic rs11248947 NARFL AU NM_001304799 exon3 c.1286+85C>G 0.421326 0.7887 Uncertain 16_783173_T->C 16 783173 783173 T C snp 46.74 1/1 6 2 0 2 1.0 intronic rs2071952 NARFL AU NM_001304799 exon5 c.2881-124T>C 0.558107 0.7887 Uncertain 16_784765_C->T 16 784765 784765 C T snp 7303.77 1/1 99 246 0 246 1.0 exonic rs9928077 NARFL AU synonymous SNV NM_022493 exon5 c.G546A p.A182A 0.376597 0.6736 0.183923 0.3296 0.7413 0.11 T 0.001 P -1.047 T 0.77 T 0.169 P Likely benign 16_784920_A->G 16 784920 784920 A G snp 1675.77 1/1 99 57 0 57 1.0 intronic rs9932304 NARFL AU NM_001304799 exon7 c.4455+49A>G 0.704872 0.8056 0.543214 0.5979 0.8596 Uncertain 16_787738_G->C 16 787738 787738 G C snp 1115.77 1/1 81 37 0 37 1.0 intronic rs12597563 NARFL AU NM_001304799 exon9 c.6913+409G>C 0.390176 0.7351 0.3612 0.8074 Uncertain 16_789618_G->A 16 789618 789618 G A snp 3046.77 1/1 99 107 0 107 1.0 intronic rs10794640 NARFL AU NM_001304799 exon10 c.9226-24G>A 0.374401 0.7341 0.150154 0.2970 0.7983 Uncertain 16_789761_A->G 16 789761 789761 A G snp 2829.77 1/1 99 99 0 99 1.0 intronic rs3752556 NARFL AU NM_001304799 exon10 c.9322+23A>G 0.520168 0.7649 0.296276 0.3517 0.8248 Uncertain 16_813783_C->A 16 813783 813783 C A snp 224.84 1/1 18 6 0 6 1.0 intronic rs113413715 MSLN AU NM_001177355 exon5 c.1011+92C>A Uncertain 16_813790_T->G 16 813790 813790 T G snp 46.74 1/1 6 2 0 2 1.0 intronic rs77068987 MSLN AU NM_001177355 exon5 c.1011+99T>G Uncertain 16_815628_A->G 16 815628 815628 A G snp 3880.77 1/1 99 147 0 147 1.0 intronic rs1737340 MSLN AU NM_001177355 exon10 c.2937+11A>G 0.99401 1 0.980924 0.9857 1 Uncertain 16_817284_C->T 16 817284 817284 C T snp 345.77 0/1 99 25 13 12 0.48 intronic rs148555821 MSLN AU NM_001177355 exon16 c.4695-91C>T 0.00179712 0.0079 Uncertain 16_820488_A->C 16 820488 820488 A C snp 44.77 0/1 33 6 4 2 0.33 downstream rs767454137 MIR662 AU 0.0274 0.0952 Uncertain 16_823279_C->T 16 823279 823279 C T snp 1232.77 0/1 99 149 89 60 0.4 intergenic rs139432358 MIR662 AU 0.00139776 0.006 0.0006 0.0082 Uncertain 16_828521_C->G 16 828521 828521 C G snp 289.77 0/1 99 28 15 13 0.46 intergenic rs76708995 MIR662 AU 0.00698882 0.0347 Uncertain 16_828844_A->G 16 828844 828844 A G snp 305.77 0/1 99 19 8 11 0.58 intergenic rs1737342 MIR662 AU 0.644369 0.5675 Uncertain 16_830829_A->C 16 830829 830829 A C snp 657.77 0/1 99 87 56 31 0.36 intergenic rs3765330 MIR662 AU 0.145168 0.2996 0.042967 0.0667 0.3381 0.0 P -0.919 T Uncertain 16_830865_A->G 16 830865 830865 A G snp 248.77 0/1 99 42 29 13 0.31 intergenic rs186681672 MIR662 AU 0.108227 0.2619 0.0522 0.2890 Uncertain 16_830868_G->T 16 830868 830868 G T snp 119.77 0/1 99 40 30 10 0.25 intergenic rs3765331 MIR662 AU 0.10623 0.2609 0.0456 0.2773 Uncertain 16_833291_C->G 16 833291 833291 C G snp 1205.77 0/1 99 141 85 56 0.4 intergenic rs35339491 MIR662 AU 0.434704 0.5605 0.4675 0.6269 Uncertain 16_833410_A->C 16 833410 833410 A C snp 662.77 0/1 99 75 45 30 0.4 intergenic rs80313379 MIR662 AU 0.105831 0.2619 0.1126 0.3438 Uncertain 16_837310_A->G 16 837310 837310 A G snp 337.78 1/1 27 9 0 9 1.0 intronic rs531278 RPUSD1 AU NM_058192 exon4 c.1404-43A>G 0.878195 0.998 0.807746 0.7917 0.9986 Uncertain 16_839184_T->C 16 839184 839184 T C snp 810.77 0/1 99 92 55 37 0.4 intronic rs117479929 CHTF18 AU NM_022092 exon3 c.525-25T>C 0.105032 0.2669 0.020559 0.0900 0.3026 Uncertain 16_839262_A->G 16 839262 839262 A G snp 2774.77 1/1 99 106 0 106 1.0 exonic rs569951 CHTF18 AU synonymous SNV NM_022092 exon3 c.A339G p.R113R 0.997005 1 0.990864 0.9923 1 Uncertain 16_839824_C->T 16 839824 839824 C T snp 90.77 0/1 99 15 11 4 0.27 intronic rs2277900 CHTF18 AU NM_022092 exon4 c.1031+109C>T 0.10623 0.2659 Uncertain 16_839949_-->T 16 839949 839949 - T indel 3673.73 0/1 99 214 110 104 0.49 intronic rs11425062 CHTF18 AU NM_022092 exon5 c.1492-227insT 0.408946 0.5397 Uncertain 16_839996_T->C 16 839996 839996 T C snp 2928.77 0/1 99 249 126 123 0.49 intronic rs4984925 CHTF18 AU NM_022092 exon5 c.1492-180T>C 0.494409 0.5694 0.4059 0.6208 Uncertain 16_840307_C->A 16 840307 840307 C A snp 2075.77 0/1 99 147 67 80 0.54 intronic rs3765262 CHTF18 AU NM_022092 exon5 c.1585+38C>A 0.103035 0.2659 0.024879 0.0808 0.3359 Uncertain 16_840378_A->G 16 840378 840378 A G snp 2734.77 0/1 99 250 128 122 0.49 exonic rs3765263 CHTF18 AU nonsynonymous SNV NM_022092 exon6 c.A731G p.K244R 0.494409 0.5704 0.331290 0.3452 0.5976 0.77 T 0.0 P -0.936 T 0.0 T 0.001 T Pathogenic 16_840597_C->T 16 840597 840597 C T snp 1330.77 0/1 99 110 50 60 0.55 exonic rs3765265 CHTF18 AU synonymous SNV NM_022092 exon7 c.C825T p.D275D 0.103035 0.2579 0.025569 0.0921 0.3583 0.0 P -0.967 T Likely benign 16_845901_T->C 16 845901 845901 T C snp 5996.77 1/1 99 217 0 217 1.0 intronic rs2982244 CHTF18 AU NM_022092 exon18 c.7262-45T>C 0.999201 1 0.995201 0.9963 0.9999 Uncertain 16_846631_G->A 16 846631 846631 G A snp 156.77 0/1 99 25 16 9 0.36 intronic rs117572388 CHTF18 AU NM_022092 exon19 c.8032-85G>A 0.104832 0.256 Uncertain 16_855717_C->G 16 855717 855717 C G snp 2626.77 0/1 99 239 132 107 0.45 exonic rs1005190 PRR25 AU nonsynonymous SNV NM_001013638 exon1 c.C275G p.T92S 0.563299 0.4494 0.431594 0.4082 0.4313 0 D 0.0 P -1.048 T 0.0 T 0.0 T Pathogenic 16_920675_G->C 16 920675 920675 G C snp 1155.77 0/1 99 118 66 52 0.44 intronic rs13329717 LMF1 AR NM_022773 exon4 c.16197-53G>C 0.0786741 0.002 Uncertain 16_942989_G->C 16 942989 942989 G C snp 849.77 0/1 99 59 29 30 0.51 intronic rs11864203 LMF1 AR NM_022773 exon7 c.38475-17G>C 0.538339 0.5526 0.394170 0.4588 0.5656 Uncertain 16_943361_T->C 16 943361 943361 T C snp 1677.77 0/1 99 127 56 71 0.56 intronic rs4984707 LMF1 AR NM_022773 exon7 c.38541+289T>C 0.538738 0.5536 0.4537 0.5256 Uncertain 16_1014091_C->G 16 1014091 1014091 C G snp 377.77 0/1 99 45 25 20 0.44 intronic LMF1 AR NM_022773 exon11 c.116256-6696C>G Uncertain 16_1031349_T->A 16 1031349 1031349 T A snp 72.77 0/1 63 5 2 3 0.6 upstream rs2432295 SOX8 AU 0.25 0.5 Uncertain 16_1034834_T->C 16 1034834 1034834 T C snp 6193.77 1/1 99 244 0 244 1.0 exonic rs237674 SOX8 AU synonymous SNV NM_014587 exon3 c.T789C p.N263N 1 1 0.9999 1 Uncertain 16_1116169_A->G 16 1116169 1116169 A G snp 1135.77 0/1 99 82 42 40 0.49 ncRNA_exonic rs7189857 SSTR5-AS1 AU 0.44988 0.5734 0.4790 0.6413 Uncertain 16_1116220_-->G 16 1116220 1116220 - G indel 1021.73 0/1 99 77 35 42 0.55 ncRNA_exonic rs34024516 SSTR5-AS1 AU 0.8997 0.8871 Uncertain 16_1116445_A->G 16 1116445 1116445 A G snp 3928.77 1/1 99 150 0 150 1.0 ncRNA_exonic rs530518 SSTR5-AS1 AU 0.963259 0.9484 0.9374 0.9167 Uncertain 16_1129872_C->T 16 1129872 1129872 C T snp 5065.77 1/1 99 176 0 176 1.0 exonic rs169068 SSTR5 AD,AO nonsynonymous SNV NM_001053 exon1 c.C1004T p.P335L 0.518171 0.8085 0.486557 0.5386 0.8062 0.37 T 0.0 P -0.970 T 0.055 T 0.011 T ID=CM1111107;DIS=Increased cellular proliferation and PDX-1 overexpression;TAG=FP;PUB=21249361 FP Pathogenic 16_1129912_A->G 16 1129912 1129912 A G snp 3417.77 1/1 99 109 0 109 1.0 exonic rs642249 SSTR5 AD,AO synonymous SNV NM_001053 exon1 c.A1044G p.P348P 0.9377 0.9405 0.957602 0.9533 0.9344 Uncertain 16_1131181_C->T 16 1131181 1131181 C T snp 5247.77 1/1 99 192 0 192 1.0 UTR3 rs12599155 SSTR5 AD,AO 0.41873 0.7976 0.4081 0.7648 0 D 0.0 P -1.015 T Uncertain 16_1204052_GGCGGGGGGCGGGGGGCGGGG->- 16 1204052 1204072 GGCGGGGGGCGGGGGGCGGGG - indel 4736.73 1/1 66 38 0 38 1.0 intronic rs147910127 CACNA1H AU,AD NM_021098 exon2 c.299+16_299+36delGGCGGGGGGCGGGGGGCGGGG 0.126595 0.0919 0.3289 Uncertain 16_1244877_G->A 16 1244877 1244877 G A snp 2283.77 1/1 99 86 1 85 0.99 intronic rs9936834 CACNA1H AU,AD NM_021098 exon3 c.41234-94G>A 0.84365 1 Uncertain 16_1244887_T->A 16 1244887 1244887 T A snp 1376.77 0/1 99 94 41 53 0.56 intronic rs3751661 CACNA1H AU,AD NM_021098 exon3 c.41234-84T>A 0.344449 0.1806 Uncertain 16_1246255_A->C 16 1246255 1246255 A C snp 114.77 0/1 99 8 4 4 0.5 intronic rs1005453 CACNA1H AU,AD NM_021098 exon5 c.42286+232A>C 0.335863 0.1042 Uncertain 16_1250340_C->T 16 1250340 1250340 C T snp 3519.77 0/1 99 249 124 125 0.5 exonic rs79829712 CACNA1H AU,AD synonymous SNV NM_021098 exon7 c.C888T p.D296D 0.000199681 0.001 0.0005 0.0067 Uncertain 16_1250389_A->G 16 1250389 1250389 A G snp 3148.77 0/1 99 250 130 120 0.48 exonic rs36117280 CACNA1H AU,AD nonsynonymous SNV NM_021098 exon7 c.A937G p.M313V 0.102636 0.0625 0.120132 0.1632 0.0775 0.54 T 0.000 P -0.621 T 0.0 T 0.0 T Pathogenic 16_1250559_T->C 16 1250559 1250559 T C snp 3051.77 0/1 99 235 108 127 0.54 exonic rs8044363 CACNA1H AU,AD synonymous SNV NM_021098 exon7 c.T1107C p.I369I 0.332668 0.1022 0.438139 0.3774 0.1115 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000152871.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 ID=CM071580;DIS=Epilepsy, childhood absence, association with;TAG=DP;PUB=17156077 DP Uncertain 16_1251803_C->T 16 1251803 1251803 C T snp 1761.77 0/1 99 121 51 70 0.58 exonic rs9922076 CACNA1H AU,AD synonymous SNV NM_021098 exon9 c.C1353T p.S451S 0.0828674 0.0625 0.097159 0.1786 0.1042 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000082060.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 16_1252118_C->T 16 1252118 1252118 C T snp 1419.77 0/1 99 101 42 59 0.58 exonic rs2407083 CACNA1H AU,AD synonymous SNV NM_021098 exon9 c.C1668T p.P556P 0.0838658 0.0645 0.079210 0.1559 0.1071 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000082062.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 16_1252259_A->G 16 1252259 1252259 A G snp 1652.77 0/1 99 110 44 66 0.6 exonic rs9934839 CACNA1H AU,AD synonymous SNV NM_021098 exon9 c.A1809G p.R603R 0.396565 0.119 0.546069 0.5185 0.2709 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000082063.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 ID=CM071579;DIS=Epilepsy, childhood absence, association with;TAG=DP;PUB=17156077 DP Uncertain 16_1252369_C->T 16 1252369 1252369 C T snp 1554.77 0/1 99 133 70 63 0.47 exonic rs61734410 CACNA1H AU,AD nonsynonymous SNV NM_021098 exon9 c.C1919T p.P640L 0.439896 0.8383 0.223533 0.4348 0.8172 0.19 T 0.0 P -0.895 T 0.55 P 0.062 P CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000082065.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 16_1252599_C->T 16 1252599 1252599 C T snp 50.77 0/1 79 15 11 4 0.27 intronic rs9924677 CACNA1H AU,AD NM_021098 exon9 c.48715+147C>T 0.0820687 0.0595 Uncertain 16_1254369_C->T 16 1254369 1254369 C T snp 1094.77 0/1 99 97 50 47 0.48 exonic rs3751664 CACNA1H AU,AD nonsynonymous SNV NM_021098 exon10 c.C2362T p.R788C 0.0467252 0.1012 0.073801 0.0887 0.1069 0.02 T 0.000 P -0.337 T 0.1 T 0.035 T CLINSIG=other|non-pathogenic;CLNDBN=Epilepsy\x2c_childhood_absence_6|not_specified;CLNREVSTAT=no_assertion_criteria_provided|criteria_provided\x2c_single_submitter;CLNACC=RCV000002823.1|RCV000082068.3;CLNDSDB=MedGen:OMIM|MedGen;CLNDSDBID=C2749872:611942|CN169374 ID=CM076042;DIS=Altered channel function;TAG=FP;PUB=17696120 FP Pathogenic 16_1254577_T->C 16 1254577 1254577 T C snp 151.77 0/1 99 11 5 6 0.55 intronic rs11640345 CACNA1H AU,AD NM_021098 exon10 c.50721+119T>C 0.22524 0.126 Uncertain 16_1255030_A->G 16 1255030 1255030 A G snp 299.77 0/1 99 28 18 10 0.36 intronic rs2974835 CACNA1H AU,AD NM_021098 exon11 c.51376-83A>G 0.614217 0.8909 Uncertain 16_1255277_C->T 16 1255277 1255277 C T snp 2639.77 0/1 99 214 100 114 0.53 intronic rs2745150 CACNA1H AU,AD NM_021098 exon11 c.51528+12C>T 0.0902556 0.0585 0.106048 0.1252 0.0589 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000082069.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 16_1255390_C->T 16 1255390 1255390 C T snp 621.77 0/1 99 48 21 27 0.56 intronic rs2745165 CACNA1H AU,AD NM_021098 exon11 c.51528+125C>T 0.0834665 0.0595 Uncertain 16_1256085_C->T 16 1256085 1256085 C T snp 228.77 0/1 99 38 28 10 0.26 intronic rs11646893 CACNA1H AU,AD NM_021098 exon12 c.52366-18C>T 0.0670927 0.0506 0.069944 0.1608 0.1468 Uncertain 16_1257731_G->A 16 1257731 1257731 G A snp 7530.77 1/1 99 250 0 250 1.0 intronic rs12930875 CACNA1H AU,AD NM_021098 exon15 c.54032-38G>A 0.859225 1 0.749510 0.8054 1 Uncertain 16_1260021_G->T 16 1260021 1260021 G T snp 1720.77 1/1 99 64 0 64 1.0 intronic rs8056494 CACNA1H AU,AD NM_021098 exon18 c.56297-13G>T 0.917732 1 0.869356 0.8938 1 Uncertain 16_1260481_T->C 16 1260481 1260481 T C snp 5222.77 1/1 99 193 0 193 1.0 exonic rs8063574 CACNA1H AU,AD synonymous SNV NM_021098 exon19 c.T3957C p.D1319D 0.919928 1 0.847037 0.8601 0.9995 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000082071.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 16_1260767_G->A 16 1260767 1260767 G A snp 2490.77 1/1 99 75 0 75 1.0 intronic rs2738897 CACNA1H AU,AD NM_021098 exon21 c.57049-19G>A 0.613618 0.8651 0.519203 0.5537 0.8892 Uncertain 16_1261024_C->T 16 1261024 1261024 C T snp 594.77 1/1 45 20 0 20 1.0 intronic rs2738898 CACNA1H AU,AD NM_021098 exon21 c.57234+53C>T 0.684505 0.8681 Uncertain 16_1261119_G->A 16 1261119 1261119 G A snp 1651.77 1/1 99 45 0 45 1.0 intronic rs2738899 CACNA1H AU,AD NM_021098 exon22 c.57430-48G>A 0.693291 0.869 0.631485 0.6351 0.8931 Uncertain 16_1261219_A->G 16 1261219 1261219 A G snp 6361.77 1/1 99 227 0 227 1.0 exonic rs2753326 CACNA1H AU,AD synonymous SNV NM_021098 exon22 c.A4275G p.S1425S 0.709665 0.869 0.643213 0.6431 0.8938 Uncertain 16_1261222_A->G 16 1261222 1261222 A G snp 6436.77 1/1 99 232 2 230 0.99 exonic rs2753325 CACNA1H AU,AD synonymous SNV NM_021098 exon22 c.A4278G p.S1426S 0.709665 0.869 0.643525 0.6432 0.8938 Uncertain 16_1261282_T->C 16 1261282 1261282 T C snp 6993.77 1/1 99 249 0 249 1.0 exonic rs4984637 CACNA1H AU,AD synonymous SNV NM_021098 exon22 c.T4338C p.I1446I 0.917732 1 0.847972 0.8597 0.9994 Uncertain 16_1261377_G->A 16 1261377 1261377 G A snp 4719.77 1/1 99 153 2 151 0.99 intronic rs2738900 CACNA1H AU,AD NM_021098 exon22 c.57557+83G>A 0.708866 0.87 Uncertain 16_1265720_C->T 16 1265720 1265720 C T snp 1260.77 1/1 90 44 0 44 1.0 intronic rs3897150 CACNA1H AU,AD NM_021098 exon30 c.61856+127C>T 0.907348 0.999 Uncertain 16_1266803_-->T 16 1266803 1266803 - T indel 962.73 1/1 66 22 0 22 1.0 intronic rs11395347 CACNA1H AU,AD NM_021098 exon31 c.63194-128insT 0.993011 1 Uncertain 16_1268494_C->T 16 1268494 1268494 C T snp 4316.77 1/1 99 163 1 162 0.99 exonic rs2745136 CACNA1H AU,AD synonymous SNV NM_021098 exon33 c.C5730T p.D1910D 0.699081 0.8661 0.651011 0.6224 0.8979 Uncertain 16_1268758_A->G 16 1268758 1268758 A G snp 96.28 1/1 9 3 0 3 1.0 intronic rs2738892 CACNA1H AU,AD NM_021098 exon33 c.64914+107A>G 0.815895 0.9673 Uncertain 16_1269029_T->C 16 1269029 1269029 T C snp 1607.77 1/1 99 60 0 60 1.0 exonic rs2738893 CACNA1H AU,AD synonymous SNV NM_021098 exon34 c.T5947C p.L1983L 0.691693 0.8681 0.660443 0.6104 0.9104 Uncertain 16_1269837_C->G 16 1269837 1269837 C G snp 71.77 0/1 99 7 4 3 0.43 intronic CACNA1H AU,AD NM_021098 exon35 c.66243-143C>G Uncertain 16_1270162_G->A 16 1270162 1270162 G A snp 2995.77 1/1 99 114 0 114 1.0 exonic rs1054645 CACNA1H AU,AD nonsynonymous SNV NM_021098 exon35 c.G6230A p.R2077H 0.700679 0.8681 0.646833 0.6628 0.8921 0.3 T 0.000 P -1.048 T 0.001 T 0.001 T CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000082076.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 16_1270349_T->C 16 1270349 1270349 T C snp 2064.77 1/1 99 63 0 63 1.0 exonic rs4247094 CACNA1H AU,AD synonymous SNV NM_021098 exon35 c.T6417C p.D2139D 0.913938 0.999 0.859674 0.8583 0.9992 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000082078.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 16_1271890_G->T 16 1271890 1271890 G T snp 2679.77 1/1 99 100 0 100 1.0 exonic rs1004041 TPSG1 AU nonsynonymous SNV NM_012467 exon6 c.C864A p.F288L 0.613419 0.8472 0.516718 0.5481 0.8741 1 T 0.000 P -0.960 T Pathogenic 16_1272038_G->A 16 1272038 1272038 G A snp 3271.77 1/1 99 125 0 125 1.0 exonic rs11248860 TPSG1 AU nonsynonymous SNV NM_012467 exon6 c.C716T p.T239I 0.877596 0.998 0.793505 0.8069 0.9994 1 T 0.0 P -0.942 T 0.0 T 0.0 T Pathogenic 16_1272684_C->G 16 1272684 1272684 C G snp 706.9 1/1 15 29 1 28 0.97 exonic rs4984638 TPSG1 AU nonsynonymous SNV NM_012467 exon4 c.G479C p.W160S 0.122204 0.1637 0.146144 0.1705 0.1843 0.07 T 0.996 P -0.925 T 1.0 D 0.994 D Pathogenic 16_1272865_G->A 16 1272865 1272865 G A snp 729.77 1/1 54 24 0 24 1.0 exonic rs4984639 TPSG1 AU synonymous SNV NM_012467 exon4 c.C298T p.L100L 0.797923 0.8988 0.730935 0.7682 0.9139 Uncertain 16_1273490_C->T 16 1273490 1273490 C T snp 992.77 1/1 72 34 0 34 1.0 exonic rs760357 TPSG1 AU nonsynonymous SNV NM_012467 exon3 c.G178A p.V60M 0.117412 0.1647 0.134569 0.2449 0.2630 0.12 T 0.0 P -1.088 T Pathogenic 16_1273638_A->G 16 1273638 1273638 A G snp 2428.77 1/1 99 98 0 98 1.0 intronic rs909920 TPSG1 AU NM_012467 exon4 c.1807+44A>G 0.801118 0.9673 0.765787 0.6959 0.9728 Uncertain 16_1273803_C->T 16 1273803 1273803 C T snp 130.03 1/1 12 4 0 4 1.0 intronic rs909921 TPSG1 AU NM_012467 exon4 c.1807+209C>T 0.666134 0.8512 Uncertain 16_1274482_G->A 16 1274482 1274482 G A snp 1781.77 1/1 99 59 0 59 1.0 intronic rs2294610 TPSG1 AU NM_012467 exon5 c.2814-119G>A 0.00698882 0.0337 Uncertain 16_1274826_C->T 16 1274826 1274826 C T snp 54.74 1/1 6 2 0 2 1.0 intronic rs34509125 TPSG1 AU NM_012467 exon5 c.2841+198C>T 0.130192 0.1657 Uncertain 16_1275135_T->C 16 1275135 1275135 T C snp 1043.77 1/1 75 39 0 39 1.0 intronic rs9938123 TPSG1 AU NM_012467 exon6 c.3419-71T>C 0.995407 1 0.990794 Uncertain 16_1278599_A->G 16 1278599 1278599 A G snp 2856.77 1/1 99 103 0 103 1.0 UTR3 rs4360940 TPSB2 AU 0.991214 1 0.975644 Uncertain 16_1278744_C->T 16 1278744 1278744 C T snp 2088.77 1/1 99 105 12 93 0.89 exonic rs62012862 TPSB2 AU nonsynonymous SNV NM_024164 exon7 c.G734A p.G245D 0.4595 0.7789 0.04 T 0.067 P -1.034 T 0.243 T 0.111 T Pathogenic 16_1278767_C->T 16 1278767 1278767 C T snp 1313.77 1/1 96 77 15 62 0.81 exonic rs201725275 TPSB2 AU synonymous SNV NM_024164 exon7 c.G711A p.L237L 0.4862 0.8035 Uncertain 16_1278806_G->A 16 1278806 1278806 G A snp 640.77 1/1 51 48 16 32 0.67 exonic rs199504258 TPSB2 AU synonymous SNV NM_024164 exon7 c.C672T p.S224S 0.5035 0.7989 Uncertain 16_1279537_C->G 16 1279537 1279537 C G snp 387.77 1/1 30 19 0 19 1.0 intronic rs188458795 TPSB2 AU NM_024164 exon5 c.917-29C>G 0.502196 0.7421 0.2823 0.4388 Uncertain 16_1279545_T->C 16 1279545 1279545 T C snp 469.77 1/1 36 21 0 21 1.0 intronic rs1800990 TPSB2 AU NM_024164 exon5 c.917-21T>C 0.7205 0.9488 Uncertain 16_1279555_C->T 16 1279555 1279555 C T snp 590.77 1/1 45 25 0 25 1.0 intronic rs148897236 TPSB2 AU NM_024164 exon5 c.917-11C>T 0.470048 0.6637 0.3006 0.4613 Uncertain 16_1279574_C->G 16 1279574 1279574 C G snp 608.77 1/1 45 28 0 28 1.0 exonic rs199887053 TPSB2 AU nonsynonymous SNV NM_024164 exon3 c.G226C p.V76L 0.476038 0.6617 0.3714 0.5135 0.32 T 0.0 P -0.913 T 0.002 T 0.005 T Pathogenic 16_1279584_T->C 16 1279584 1279584 T C snp 608.77 1/1 45 28 0 28 1.0 exonic rs111992451 TPSB2 AU synonymous SNV NM_024164 exon3 c.A216G p.A72A 0.476238 0.6617 0.3843 0.5257 Uncertain 16_1279623_G->A 16 1279623 1279623 G A snp 902.77 1/1 69 38 0 38 1.0 exonic rs72633259 TPSB2 AU synonymous SNV NM_024164 exon3 c.C177T p.C59C 0.398762 0.6766 0.298184 0.3323 0.6656 Uncertain 16_1279704_A->G 16 1279704 1279704 A G snp 579.77 0/1 99 31 7 24 0.77 exonic rs202107419 TPSB2 AU synonymous SNV NM_024164 exon3 c.T96C p.V32V 0.3409 0.4295 Uncertain 16_1279710_G->A 16 1279710 1279710 G A snp 545.77 0/1 99 32 8 24 0.75 exonic rs200630968 TPSB2 AU synonymous SNV NM_024164 exon3 c.C90T p.G30G 0.3271 0.4109 Uncertain 16_1279714_A->G 16 1279714 1279714 A G snp 543.77 0/1 99 32 8 24 0.75 exonic rs192643610 TPSB2 AU nonsynonymous SNV NM_024164 exon3 c.T86C p.V29A 0.3229 0.4063 0.81 T 1 N -0.991 T 0.0 T 0.001 T Pathogenic 16_1279717_C->T 16 1279717 1279717 C T snp 506.77 0/1 99 31 8 23 0.74 exonic rs201728868 TPSB2 AU nonsynonymous SNV NM_024164 exon3 c.G83A p.R28Q 0.3172 0.3986 0.6 T 1 N -0.980 T 0.124 T 0.019 T Pathogenic 16_1279732_C->A 16 1279732 1279732 C A snp 506.77 0/1 99 31 8 23 0.74 exonic rs201836020 TPSB2 AU nonsynonymous SNV NM_024164 exon3 c.G68T p.G23V 0.2798 0.3765 0.15 T 1 N -0.504 T 0.975 D 0.489 D Pathogenic 16_1279778_G->C 16 1279778 1279778 G C snp 296.77 0/1 99 24 10 14 0.58 intronic rs368004602 TPSB2 AU NM_024164 exon5 c.1089+40G>C 0.3446 0.4538 Uncertain 16_1279816_G->A 16 1279816 1279816 G A snp 80.77 0/1 99 28 22 6 0.21 intronic rs371907673 TPSB2 AU NM_024164 exon6 c.1242-75G>A 0.311102 0.4633 Uncertain 16_1279817_A->G 16 1279817 1279817 A G snp 286.78 1/1 24 26 0 26 1.0 intronic rs200692215 TPSB2 AU NM_024164 exon6 c.1242-74A>G 0.535942 0.7817 Uncertain 16_1280087_G->C 16 1280087 1280087 G C snp 342.77 1/1 33 11 0 11 1.0 intronic rs143547788 TPSB2 AU NM_024164 exon7 c.1513-75G>C 0.547724 0.8363 Uncertain 16_1291075_T->C 16 1291075 1291075 T C snp 103.03 1/1 12 31 0 31 1.0 intronic rs71380253 TPSAB1 AU NM_003294 exon2 c.61+75T>C 0.516773 0.747 Uncertain 16_1291114_C->G 16 1291114 1291114 C G snp 36.77 0/1 65 18 10 8 0.44 intronic rs28580251 TPSAB1 AU NM_003294 exon3 c.214-39C>G 0.3843 0.3909 Uncertain 16_1291188_C->T 16 1291188 1291188 C T snp 968.96 0/1 5 45 5 40 0.89 exonic rs17434400 TPSAB1 AU synonymous SNV NM_003294 exon3 c.C96T p.V32V 0.3936 0.5222 Uncertain 16_1291308_A->G 16 1291308 1291308 A G snp 135.77 0/1 99 66 52 14 0.21 exonic rs201568970 TPSAB1 AU synonymous SNV NM_003294 exon3 c.A216G p.A72A 0.1911 0.2553 Uncertain 16_1291318_G->C 16 1291318 1291318 G C snp 160.77 0/1 99 64 49 15 0.23 exonic rs151324823 TPSAB1 AU nonsynonymous SNV NM_003294 exon3 c.G226C p.V76L 0.2018 0.2704 0.34 T 0.298 P -0.814 T 0.002 T 0.005 T Pathogenic 16_1291337_G->A 16 1291337 1291337 G A snp 227.77 0/1 99 59 42 17 0.29 intronic rs200843295 TPSAB1 AU NM_003294 exon3 c.386+12G>A 0.1827 0.2742 Uncertain 16_1291355_G->C 16 1291355 1291355 G C snp 250.77 0/1 99 50 33 17 0.34 intronic rs112842602 TPSAB1 AU NM_003294 exon3 c.386+30G>C 0.1592 0.2432 Uncertain 16_1291454_G->A 16 1291454 1291454 G A snp 78.77 0/1 99 26 17 9 0.35 exonic rs201351744 TPSAB1 AU nonsynonymous SNV NM_003294 exon4 c.G253A p.A85T 0.2050 0.3291 0.61 T 1 N -0.663 T 0.003 T 0.002 T Pathogenic 16_1291591_G->C 16 1291591 1291591 G C snp 322.77 0/1 99 79 60 19 0.24 exonic rs1064778 TPSAB1 AU synonymous SNV NM_003294 exon4 c.G390C p.P130P 0.0073 0.0738 Uncertain 16_1291597_C->G 16 1291597 1291597 C G snp 1237.77 0/1 99 83 20 63 0.76 exonic rs144979264 TPSAB1 AU nonsynonymous SNV NM_003294 exon4 c.C396G p.N132K 0.494209 0.754 0.380575 0.4412 0.7579 0.49 T 0.0 P -0.943 T 0.048 T 0.061 T Pathogenic 16_1291598_G->A 16 1291598 1291598 G A snp 391.77 0/1 99 84 63 21 0.25 exonic rs200334042 TPSAB1 AU nonsynonymous SNV NM_003294 exon4 c.G397A p.V133I 0.0052 0.0384 0.5 T 1 N -0.949 T 0.0 T 0.0 T Pathogenic 16_1291608_A->G 16 1291608 1291608 A G snp 402.77 0/1 99 89 64 25 0.28 exonic rs201820654 TPSAB1 AU nonsynonymous SNV NM_003294 exon4 c.A407G p.H136R 0.0030 0.0076 0.56 T 1 N -0.920 T 0.003 T 0.008 T Pathogenic 16_1291623_C->T 16 1291623 1291623 C T snp 804.77 0/1 99 104 65 39 0.38 exonic rs765144578 TPSAB1 AU nonsynonymous SNV NM_003294 exon4 c.C422T p.T141I 0.0068 0.0130 0.05 T 0.993 N -0.597 T 0.173 T 0.226 T Pathogenic 16_1291624_C->G 16 1291624 1291624 C G snp 912.77 0/1 99 106 65 41 0.39 exonic rs752657381 TPSAB1 AU synonymous SNV NM_003294 exon4 c.C423G p.T141T 0.0068 0.0131 Uncertain 16_1291639_A->G 16 1291639 1291639 A G snp 1336.77 0/1 99 131 66 65 0.5 exonic rs1064783 TPSAB1 AU synonymous SNV NM_003294 exon4 c.A438G p.S146S 0.0564 0.1397 Uncertain 16_1291717_-->G 16 1291717 1291717 - G indel 2497.73 0/1 99 120 45 75 0.63 intronic rs202230226 TPSAB1 AU NM_003294 exon4 c.761+17insG 0.2475 0.3621 Uncertain 16_1291754_CTGGGCTCCCT->- 16 1291754 1291764 CTGGGCTCCCT - indel 5162.73 0/1 99 94 30 64 0.68 intronic rs369483846 TPSAB1 AU NM_003294 exon4 c.761+54_888-63delCTGGGCTCCCT Uncertain 16_1291800_G->C 16 1291800 1291800 G C snp 802.77 0/1 99 187 94 93 0.5 intronic rs2234656 TPSAB1 AU NM_003294 exon5 c.888-27G>C 0.1598 0.2436 Uncertain 16_1291831_G->C 16 1291831 1291831 G C snp 349.77 0/1 99 213 114 99 0.46 exonic rs202156919 TPSAB1 AU nonsynonymous SNV NM_003294 exon5 c.G503C p.R168P 0.2296 0.3365 1 T 0.0 P -0.969 T 0.0 T 0.001 T Pathogenic 16_1291850_T->C 16 1291850 1291850 T C snp 324.77 0/1 99 238 125 113 0.47 exonic rs1141970 TPSAB1 AU synonymous SNV NM_003294 exon5 c.T522C p.P174P 0.2355 0.3279 Uncertain 16_1292425_T->C 16 1292425 1292425 T C snp 77.28 1/1 9 3 0 3 1.0 UTR3 rs67723611 TPSAB1 AU Uncertain 16_1306346_C->G 16 1306346 1306346 C G snp 412.77 0/1 99 67 39 28 0.42 exonic rs3865205 TPSD1 AU nonsynonymous SNV NM_012217 exon1 c.C65G p.P22R 0.219649 0.3641 0.2883 0.4024 0.44 T 1 N -0.872 T 0.063 T 0.072 T Pathogenic 16_1306347_G->C 16 1306347 1306347 G C snp 412.77 0/1 99 67 39 28 0.42 exonic rs2005937 TPSD1 AU synonymous SNV NM_012217 exon1 c.G66C p.P22P 0.219649 0.3641 0.3340 0.4728 Uncertain 16_1306355_T->C 16 1306355 1306355 T C snp 1499.77 1/1 99 65 0 65 1.0 exonic rs1800984 TPSD1 AU nonsynonymous SNV NM_012217 exon1 c.T74C p.V25A 0.71865 0.9484 0.601401 0.6493 0.9663 1 T 0.0 P -0.980 T 0.0 T 0.0 T Pathogenic 16_1306410_A->G 16 1306410 1306410 A G snp 467.77 0/1 99 50 30 20 0.4 intronic rs3993979 TPSD1 AU NM_012217 exon1 c.82+47A>G 0.3499 0.4384 Uncertain 16_1306439_C->T 16 1306439 1306439 C T snp 304.77 0/1 99 37 25 12 0.32 intronic rs2401941 TPSD1 AU NM_012217 exon1 c.82+76C>T Uncertain 16_1306469_T->G 16 1306469 1306469 T G snp 138.77 0/1 99 26 19 7 0.27 intronic rs2401940 TPSD1 AU NM_012217 exon2 c.235-47T>G 0.0837 0.1124 Uncertain 16_1306671_G->A 16 1306671 1306671 G A snp 1151.77 1/1 84 44 0 44 1.0 exonic rs1141966 TPSD1 AU synonymous SNV NM_012217 exon2 c.G237A p.A79A 0.444289 0.7946 0.304371 0.3692 0.7989 Uncertain 16_1306681_G->A 16 1306681 1306681 G A snp 993.77 1/1 72 39 0 39 1.0 exonic rs1141967 TPSD1 AU nonsynonymous SNV NM_012217 exon2 c.G247A p.V83M 0.441693 0.7946 0.304063 0.3700 0.7992 0.02 T 0.0 P -0.902 T 0.994 D 0.839 D Pathogenic 16_1306802_A->G 16 1306802 1306802 A G snp 180.77 0/1 99 21 14 7 0.33 exonic rs2401930 TPSD1 AU nonsynonymous SNV NM_012217 exon3 c.A259G p.I87V 0.1747 0.2047 0.29 T 1 N -0.905 T 0.0 T 0.004 T Pathogenic 16_1306817_G->A 16 1306817 1306817 G A snp 180.77 0/1 99 19 12 7 0.37 exonic rs3993983 TPSD1 AU nonsynonymous SNV NM_012217 exon3 c.G274A p.A92T 0.2196 0.2615 0.7 T 1 N -0.604 T 0.045 T 0.006 T Pathogenic 16_1306918_C->T 16 1306918 1306918 C T snp 704.77 0/1 99 43 17 26 0.6 exonic rs74470113 TPSD1 AU synonymous SNV NM_012217 exon3 c.C375T p.T125T 0.3530 0.4277 CLINSIG=untested;CLNDBN=Malignant_melanoma;CLNREVSTAT=no_assertion_provided;CLNACC=RCV000070988.2;CLNDSDB=MedGen:SNOMED_CT;CLNDSDBID=C0025202:2092003 Uncertain 16_1306921_G->A 16 1306921 1306921 G A snp 670.77 0/1 99 46 19 27 0.59 exonic rs78324915 TPSD1 AU synonymous SNV NM_012217 exon3 c.G378A p.G126G 0.3511 0.4257 Uncertain 16_1306927_C->T 16 1306927 1306927 C T snp 688.77 0/1 99 47 20 27 0.57 exonic rs79472859 TPSD1 AU synonymous SNV NM_012217 exon3 c.C384T p.D128D 0.3486 0.4229 Uncertain 16_1306971_A->G 16 1306971 1306971 A G snp 618.77 0/1 99 63 35 28 0.44 exonic rs72775466 TPSD1 AU nonsynonymous SNV NM_012217 exon3 c.A428G p.H143R 0.3459 0.4202 0.28 T 0.0 P -0.808 T 0.003 T 0.011 T Pathogenic 16_1306973_A->G 16 1306973 1306973 A G snp 652.77 0/1 99 63 35 28 0.44 exonic rs79313952 TPSD1 AU nonsynonymous SNV NM_012217 exon3 c.A430G p.I144V 0.3458 0.4216 1 T 0.0 P -1.019 T 0.001 T 0.009 T Pathogenic 16_1306986_C->T 16 1306986 1306986 C T snp 612.77 0/1 99 69 41 28 0.41 exonic rs72775467 TPSD1 AU nonsynonymous SNV NM_012217 exon3 c.C443T p.T148M 0.3581 0.4287 0.07 T 0.000 P -1.035 T 0.665 T 0.144 P Pathogenic 16_1307050_C->T 16 1307050 1307050 C T snp 162.77 0/1 99 80 70 10 0.13 exonic rs765369243 TPSD1 AU synonymous SNV NM_012217 exon3 c.C507T p.D169D 0.0840 0.1127 ID=COSM3361635;OCCURENCE=4(liver),1(kidney) Uncertain 16_1307060_A->G 16 1307060 1307060 A G snp 74.77 0/1 99 78 71 7 0.09 exonic rs201543585 TPSD1 AU nonsynonymous SNV NM_012217 exon3 c.A517G p.N173D 0.0224 0.0304 0.93 T 1 N -0.760 T 0.0 T 0.004 T Pathogenic 16_1311333_A->G 16 1311333 1311333 A G snp 4931.77 1/1 99 197 0 197 1.0 intergenic rs3765436 TPSD1 AU 0.544928 0.8552 0.4732 0.9158 0.17 T -1.055 T Uncertain 16_1311513_-->GGCA 16 1311513 1311513 - GGCA indel 7440.73 1/1 99 132 0 132 1.0 intergenic rs148379518 TPSD1 AU 0.536941 0.8403 0.4565 0.905 Uncertain 16_1312546_T->A 16 1312546 1312546 T A snp 7232.77 1/1 99 250 0 250 1.0 intergenic rs1610293 TPSD1 AU 0.528554 0.8542 0.4576 0.9135 0.04 T -0.948 T Uncertain 16_1312649_C->T 16 1312649 1312649 C T snp 3104.77 0/1 99 247 113 134 0.54 intergenic rs780635548 TPSD1 AU 0.0001 0 0.1 T -1.036 T Uncertain 16_1312826_A->G 16 1312826 1312826 A G snp 3458.77 1/1 99 115 0 115 1.0 intergenic rs7184111 TPSD1 AU 0.534744 0.8542 0.4725 0.8987 Uncertain 16_1312976_T->G 16 1312976 1312976 T G snp 4994.77 1/1 99 193 0 193 1.0 intergenic rs8048322 TPSD1 AU 0.524561 0.8522 0.4574 0.9019 Uncertain 16_1323539_T->C 16 1323539 1323539 T C snp 889.77 1/1 66 24 0 24 1.0 intergenic rs8060254 TPSD1 AU 0.520767 0.8631 Uncertain 16_1323781_T->C 16 1323781 1323781 T C snp 2057.77 1/1 99 80 0 80 1.0 intergenic rs1610294 TPSD1 AU 0.781749 0.9117 Uncertain 16_1326785_A->T 16 1326785 1326785 A T snp 498.77 1/1 39 21 0 21 1.0 intergenic rs35786958 TPSD1 AU Uncertain 16_1326832_T->A 16 1326832 1326832 T A snp 54.74 1/1 6 2 0 2 1.0 intergenic rs34128123 TPSD1 AU Uncertain 16_1358561_T->G 16 1358561 1358561 T G snp 240.84 0/1 18 8 1 7 0.88 intergenic rs62011260 TPSD1 AU 0.582268 0.8978 Uncertain 16_1358563_C->A 16 1358563 1358563 C A snp 291.78 1/1 24 8 0 8 1.0 intergenic rs62011261 TPSD1 AU 0.951278 1 Uncertain 16_1358609_TGAGGGAGGGAGGGAATTAG->- 16 1358609 1358628 TGAGGGAGGGAGGGAATTAG - indel 4690.73 1/1 75 25 0 25 1.0 intergenic rs148430996 TPSD1 AU Uncertain 16_1358917_A->T 16 1358917 1358917 A T snp 506.77 1/1 39 18 0 18 1.0 upstream rs11644706 UBE2I AU 0.951078 1 Uncertain 16_1358976_T->A 16 1358976 1358976 T A snp 138.03 1/1 12 8 0 8 1.0 upstream rs11645809 UBE2I AU 0.950879 1 Uncertain 16_1364140_T->C 16 1364140 1364140 T C snp 5389.77 1/1 99 189 0 189 1.0 intronic rs9941160 UBE2I AU NM_194260 exon2 c.66+43T>C 0.950479 1 0.910357 0.9194 0.9998 Uncertain 16_1364281_T->C 16 1364281 1364281 T C snp 3676.77 1/1 99 145 1 144 0.99 intronic rs4984806 UBE2I AU NM_194260 exon3 c.262-12T>C 0.950479 1 0.910357 0.9193 0.9998 Uncertain 16_1370303_T->C 16 1370303 1370303 T C snp 1714.77 1/1 99 49 0 49 1.0 intronic rs909916 UBE2I AU NM_194260 exon5 c.6253+19T>C 0.950479 1 0.910602 0.9196 0.9992 Uncertain 16_1370309_C->G 16 1370309 1370309 C G snp 1853.77 1/1 99 54 0 54 1.0 intronic rs909917 UBE2I AU NM_194260 exon5 c.6253+25C>G 0.950479 1 0.910756 0.9197 0.9997 Uncertain 16_1370597_G->C 16 1370597 1370597 G C snp 3297.77 1/1 99 107 0 107 1.0 intronic rs4017786 UBE2I AU NM_194260 exon6 c.6487+79G>C 0.950479 1 0.9207 0.9996 0.0 P -1.002 T 0.0 T 0.0 T Uncertain 16_1370614_C->G 16 1370614 1370614 C G snp 2694.77 1/1 99 85 0 85 1.0 intronic rs8063770 UBE2I AU NM_194260 exon6 c.6487+96C>G 0.950479 1 0.9219 0.9997 0.0 P -1.017 T 0.0 T 0.0 T Uncertain 16_1370630_A->G 16 1370630 1370630 A G snp 1677.77 1/1 99 47 0 47 1.0 intronic rs8043720 UBE2I AU NM_194260 exon6 c.6487+112A>G 0.950479 1 0.9220 0.9996 Uncertain 16_1374656_A->G 16 1374656 1374656 A G snp 1545.77 1/1 99 49 0 49 1.0 intronic rs761060 UBE2I AU NM_194260 exon7 c.10699-74A>G 0.78095 0.9603 Uncertain 16_1374818_A->G 16 1374818 1374818 A G snp 6050.77 1/1 99 203 0 203 1.0 UTR3 rs8063 UBE2I AU 0.663339 0.9534 0.624558 0.7085 0.9456 Uncertain 16_1388416_T->C 16 1388416 1388416 T C snp 130.03 1/1 12 4 0 4 1.0 intronic rs13338616 BAIAP3 AU NM_003933 exon2 c.3878-124T>C 0.94349 1 Uncertain 16_1388888_C->T 16 1388888 1388888 C T snp 4545.77 1/1 99 176 1 175 0.99 intronic rs7197416 BAIAP3 AU NM_001199097 exon3 c.352-14C>T 0.946286 1 0.907524 0.9138 0.9998 Uncertain 16_1389153_C->A 16 1389153 1389153 C A snp 2074.77 1/1 99 79 1 78 0.99 exonic rs7202563 BAIAP3 AU nonsynonymous SNV NM_001286464 exon4 c.C259A p.P87T 0.95627 1 0.936219 0.9269 0.9996 0.6 T 0.0 P -0.963 T 0.267 T 0.039 T Pathogenic 16_1389751_C->G 16 1389751 1389751 C G snp 1676.77 1/1 99 59 0 59 1.0 intronic rs113792347 BAIAP3 AU NM_001199097 exon5 c.1054+147C>G 0.448882 0.7411 Uncertain 16_1391221_G->A 16 1391221 1391221 G A snp 6888.77 1/1 99 246 0 246 1.0 intronic rs34468534 BAIAP3 AU NM_001199097 exon7 c.2646+25G>A 0.456869 0.7738 0.366436 0.3940 0.7798 Uncertain 16_1391871_C->G 16 1391871 1391871 C G snp 5142.77 1/1 99 186 0 186 1.0 splicing rs2369699 BAIAP3 AU NM_001199097 exon9 c.3317+4C>G 0.583067 0.7798 0.497999 0.4656 0.7852 Pathogenic 16_1392877_T->C 16 1392877 1392877 T C snp 2373.77 1/1 99 91 0 91 1.0 intronic rs742458 BAIAP3 AU NM_001199097 exon14 c.4363-36T>C 0.497204 0.7738 0.417026 0.4197 0.7806 Uncertain 16_1393983_C->T 16 1393983 1393983 C T snp 845.77 0/1 99 59 29 30 0.51 intronic rs190369301 BAIAP3 AU NM_001199097 exon16 c.5472-39C>T 0.00339457 0.0159 0.000077 0.0014 0.0121 Uncertain 16_1394507_A->C 16 1394507 1394507 A C snp 5032.77 1/1 99 176 0 176 1.0 exonic rs1132356 BAIAP3 AU nonsynonymous SNV NM_001199096 exon17 c.A1532C p.D511A 0.951078 1 0.920988 0.9200 0.9994 0.57 T 0.0 P -0.978 T 0.0 T 0.0 T Pathogenic 16_1394551_A->G 16 1394551 1394551 A G snp 6411.77 1/1 99 236 0 236 1.0 intronic rs11248872 BAIAP3 AU NM_001199097 exon18 c.5976+25A>G 0.953674 0.997 0.926066 0.9199 0.9949 Uncertain 16_1394742_GCCAACAGG->- 16 1394742 1394750 GCCAACAGG - indel 24972.7 1/1 99 233 0 233 1.0 intronic rs151251565 BAIAP3 AU NM_001199097 exon19 c.6149+43_6248-48delGCCAACAGG 0.470048 0.7738 0.375200 0.3954 0.7721 Uncertain 16_1397518_-->C 16 1397518 1397518 - C indel 3427.73 1/1 99 93 0 93 1.0 intronic rs34339539 BAIAP3 AU NM_001199097 exon30 c.8995-27insC 0.788938 0.9563 0.752412 0.8153 0.9561 Uncertain 16_1398077_-->CT 16 1398077 1398077 - CT indel 13540.7 1/1 99 248 0 248 1.0 intronic rs34766513 BAIAP3 AU NM_001199097 exon33 c.9546-19insCT 0.939696 1 0.900192 0.9143 0.9990 Uncertain 16_1400822_G->A 16 1400822 1400822 G A snp 1850.77 0/1 99 148 64 84 0.57 exonic rs142807232 TSR3 AU nonsynonymous SNV NM_001001410 exon3 c.C512T p.T171I 0.00339457 0.0159 0.0012 0.0125 0.01 T 1.000 D -0.066 T 0.979 D 0.948 D Pathogenic 16_1407792_T->C 16 1407792 1407792 T C snp 104.28 1/1 9 5 0 5 1.0 intronic rs4984644 GNPTG AR NM_032520 exon4 c.9777-3951T>C 0.949681 1 0.9375 . Uncertain 16_1407809_T->C 16 1407809 1407809 T C snp 106.28 1/1 9 6 0 6 1.0 intronic rs4984820 GNPTG AR NM_032520 exon4 c.9777-3934T>C 0.965855 1 Uncertain 16_1417408_T->C 16 1417408 1417408 T C snp 269.8 1/1 21 9 0 9 1.0 intronic rs4984823 UNKL AU NM_001193389 exon2 c.1110+58T>C 0.948482 1 Uncertain 16_1419947_A->G 16 1419947 1419947 A G snp 2213.77 1/1 99 83 0 83 1.0 intronic rs11248874 UNKL AU NM_001276414 exon4 c.3694+13A>G 0.967452 1 0.939991 0.9475 1 Uncertain 16_1421797_T->G 16 1421797 1421797 T G snp 222.84 1/1 18 7 0 7 1.0 intronic rs4984824 UNKL AU NM_001193389 exon5 c.5372+185T>G 0.950679 1 Uncertain 16_1433766_T->C 16 1433766 1433766 T C snp 5385.77 1/1 99 196 1 195 0.99 intronic rs12918814 UNKL AU NM_001193388 exon6 c.18968-1442T>C 0.973043 1 0.9548 1 0.21 T 0.0 P -0.974 T Uncertain 16_1447278_A->G 16 1447278 1447278 A G snp 703.77 1/1 51 25 0 25 1.0 exonic rs61738727 UNKL AU synonymous SNV NM_001193388 exon6 c.T753C p.S251S 0.83127 1 0.7514 0.8993 Uncertain 16_1447347_C->A 16 1447347 1447347 C A snp 41.74 1/1 6 2 0 2 1.0 intronic rs150449923 UNKL AU NM_001193388 exon10 c.31056+51C>A 0.426518 0.5476 Uncertain 16_1451519_G->A 16 1451519 1451519 G A snp 426.77 0/1 99 43 24 19 0.44 intronic rs761068 UNKL AU NM_001193388 exon12 c.35328-49G>A 0.610823 0.5169 0.698818 0.6848 0.5132 Uncertain 16_1455900_C->T 16 1455900 1455900 C T snp 7027.77 1/1 99 248 2 246 0.99 intronic rs8044833 UNKL AU NM_001193388 exon13 c.37105+2555C>T 0.867612 1 0.9122 1 Uncertain 16_1458381_G->C 16 1458381 1458381 G C snp 95.28 1/1 9 4 0 4 1.0 intronic rs1609562 UNKL AU NM_001193388 exon13 c.37105+5036G>C 0.86861 1 Uncertain 16_1458561_T->C 16 1458561 1458561 T C snp 989.77 1/1 72 35 0 35 1.0 intronic rs2179534 UNKL AU NM_001193388 exon13 c.37105+5216T>C 0.868411 1 0.8501 1 Uncertain 16_1464636_A->C 16 1464636 1464636 A C snp 2632.77 1/1 99 111 0 111 1.0 exonic rs111437424 UNKL AU synonymous SNV NM_001193388 exon1 c.T57G p.T19T 0.952875 1 0.921937 0.9176 1 Uncertain 16_1476465_A->G 16 1476465 1476465 A G snp 349.78 1/1 27 9 0 9 1.0 intergenic rs4984834 C16orf91 AU 0.92492 0.9772 Uncertain 16_1484338_A->G 16 1484338 1484338 A G snp 764.77 0/1 99 39 10 29 0.74 downstream rs7192100 CCDC154 AU 0.796725 0.9454 Uncertain 16_1484348_T->G 16 1484348 1484348 T G snp 330.77 0/1 99 49 33 16 0.33 downstream rs7196951 CCDC154 AU 0.188698 0.0516 0.1092 0.0479 Uncertain 16_1484385_C->A 16 1484385 1484385 C A snp 443.77 0/1 99 61 41 20 0.33 downstream rs78398531 CCDC154 AU 0.125599 0.0526 0.116732 0.0822 0.0436 Uncertain 16_1484392_G->C 16 1484392 1484392 G C snp 1015.77 0/1 99 64 22 42 0.66 UTR3 rs12598718 CCDC154 AU 0.573283 0.8194 0.534385 0.5885 0.8177 Uncertain 16_1484473_A->G 16 1484473 1484473 A G snp 1963.77 1/1 99 77 0 77 1.0 exonic rs7192331 CCDC154 AU nonsynonymous SNV NM_001143980 exon17 c.T1940C p.L647P 0.967652 0.998 0.941962 0.9509 0.9984 0.29 T 0.0 P -1.032 T 0.0 T 0.0 T Pathogenic 16_1484528_G->A 16 1484528 1484528 G A snp 493.77 0/1 99 49 26 23 0.47 exonic rs61744665 CCDC154 AU nonsynonymous SNV NM_001143980 exon17 c.C1885T p.R629C 0.114617 0.0516 0.0722 0.0490 0 D 0.0 P -1.002 T 0.894 T 0.219 P Pathogenic 16_1484613_G->A 16 1484613 1484613 G A snp 328.77 0/1 99 27 14 13 0.48 intronic rs7190606 CCDC154 AU NM_001143980 exon2 c.260-55G>A 0.220447 0.0645 Uncertain 16_1484791_C->T 16 1484791 1484791 C T snp 888.77 0/1 99 67 23 44 0.66 exonic rs7192233 CCDC154 AU synonymous SNV NM_001143980 exon16 c.G1755A p.P585P 0.0946486 0.0516 0.0830 0.0419 Uncertain 16_1485243_A->G 16 1485243 1485243 A G snp 563.77 0/1 99 75 49 26 0.35 intronic rs9927318 CCDC154 AU NM_001143980 exon3 c.768+67A>G 0.226637 0.0665 Uncertain 16_1485255_A->G 16 1485255 1485255 A G snp 492.77 0/1 99 72 49 23 0.32 intronic rs9927323 CCDC154 AU NM_001143980 exon3 c.768+79A>G 0.220647 0.0665 Uncertain 16_1486352_T->C 16 1486352 1486352 T C snp 894.77 0/1 99 57 29 28 0.49 intronic rs909974 CCDC154 AU NM_001143980 exon5 c.2037-93T>C 0.492013 0.2024 Uncertain 16_1486398_A->G 16 1486398 1486398 A G snp 2626.77 0/1 99 184 83 101 0.55 intronic rs6600145 CCDC154 AU NM_001143980 exon5 c.2037-47A>G 0.220847 0.0665 0.197547 0.1493 0.0540 Uncertain 16_1486875_C->T 16 1486875 1486875 C T snp 1792.77 0/1 99 160 85 75 0.47 intronic rs3751894 CCDC154 AU NM_001143980 exon6 c.2404+63C>T 0.48722 0.1964 Uncertain 16_1488224_T->C 16 1488224 1488224 T C snp 1070.77 0/1 99 83 36 47 0.57 intronic rs4984843 CCDC154 AU NM_001143980 exon8 c.3769+47T>C 0.488618 0.1915 0.4810 0.1932 Uncertain 16_1488306_G->A 16 1488306 1488306 G A snp 334.77 0/1 99 24 9 15 0.63 intronic rs9924950 CCDC154 AU NM_001143980 exon8 c.3769+129G>A 0.134185 0.0546 Uncertain 16_1488646_A->G 16 1488646 1488646 A G snp 1762.77 0/1 99 177 95 82 0.46 exonic rs8054054 CCDC154 AU synonymous SNV NM_001143980 exon9 c.T999C p.R333R 0.501597 0.1905 0.553000 0.4873 0.1804 Uncertain 16_1489261_C->T 16 1489261 1489261 C T snp 53.74 1/1 6 3 0 3 1.0 intronic rs2050152 CCDC154 AU NM_001143980 exon11 c.4719+134C>T 0.472843 0.8095 Uncertain 16_1492660_T->C 16 1492660 1492660 T C snp 796.77 1/1 60 20 0 20 1.0 intronic rs760993 CCDC154 AU NM_001143980 exon12 c.8122+130T>C 0.984026 1 Uncertain 16_1493030_C->G 16 1493030 1493030 C G snp 578.77 0/1 99 52 29 23 0.44 intronic rs1883480 CCDC154 AU NM_001143980 exon13 c.8568+54C>G 0.510982 0.8095 Uncertain 16_1493098_G->A 16 1493098 1493098 G A snp 146.77 0/1 99 14 9 5 0.36 intronic rs760994 CCDC154 AU NM_001143980 exon13 c.8568+122G>A 0.568091 0.8204 Uncertain 16_1493130_C->T 16 1493130 1493130 C T snp 211.77 0/1 99 18 9 9 0.5 intronic rs760995 CCDC154 AU NM_001143980 exon14 c.8853-131C>T 0.484026 0.7986 Uncertain 16_1493759_C->T 16 1493759 1493759 C T snp 1016.77 0/1 99 72 29 43 0.6 intronic rs12596752 CCDC154 AU NM_001143980 exon16 c.9388-37C>T 0.458267 0.7837 0.388109 0.4711 0.8268 Uncertain 16_1497137_C->T 16 1497137 1497137 C T snp 451.77 0/1 99 40 21 19 0.47 intronic rs12599176 CLCN7 AU,AD NM_001114331 exon2 c.456+50C>T 0.484824 0.7817 0.393253 0.5165 0.7859 Uncertain 16_1498197_A->G 16 1498197 1498197 A G snp 397.77 0/1 99 41 23 18 0.44 intronic rs2235578 CLCN7 AU,AD NM_001114331 exon5 c.1724-158A>G 0.470647 0.8036 Uncertain 16_1498520_A->G 16 1498520 1498520 A G snp 930.77 0/1 99 61 27 34 0.56 intronic rs12597739 CLCN7 AU,AD NM_001114331 exon5 c.1854+35A>G 0.596845 0.8016 0.531009 0.5407 0.7928 Uncertain 16_1499377_C->T 16 1499377 1499377 C T snp 633.77 0/1 99 55 26 29 0.53 intronic rs742408 CLCN7 AU,AD NM_001114331 exon8 c.2697+49C>T 0.454673 0.7798 0.340467 0.4489 0.7826 Uncertain 16_1500708_-->C 16 1500708 1500708 - C indel 760.73 0/1 99 60 35 25 0.42 intronic rs397764046 CLCN7 AU,AD NM_001114331 exon9 c.4036+41insC 0.355032 0.3026 0.378686 0.3917 0.3517 Uncertain 16_1503879_T->A 16 1503879 1503879 T A snp 3182.76 0/1 99 243 115 128 0.53 exonic rs2235579 CLCN7 AU,AD synonymous SNV NM_001287 exon14 c.A1170T p.A390A 0.555911 0.6895 0.509309 0.5335 0.6689 Uncertain 16_1504017_A->G 16 1504017 1504017 A G snp 439.77 0/1 99 23 10 13 0.57 intronic rs4786337 CLCN7 AU,AD NM_001114331 exon12 c.7264+122A>G 0.687899 0.878 Uncertain 16_1504633_C->T 16 1504633 1504633 C T snp 152.77 0/1 99 20 13 7 0.35 intronic rs4265806 CLCN7 AU,AD NM_001114331 exon13 c.7835+167C>T 0.724441 0.8919 Uncertain 16_1504934_T->C 16 1504934 1504934 T C snp 364.77 0/1 99 24 12 12 0.5 intronic rs9934018 CLCN7 AU,AD NM_001114331 exon14 c.8503-200T>C 0.534145 0.7629 Uncertain 16_1505599_C->T 16 1505599 1505599 C T snp 864.77 0/1 99 52 22 30 0.58 intronic rs7190701 CLCN7 AU,AD NM_001114331 exon15 c.9100-132C>T 0.571685 0.7619 Uncertain 16_1507778_T->C 16 1507778 1507778 T C snp 8141.77 1/1 99 248 0 248 1.0 intronic rs9922189 CLCN7 AU,AD NM_001114331 exon18 c.11126+21T>C 0.575679 0.6885 0.543853 0.5826 0.7225 Uncertain 16_1509313_C->A 16 1509313 1509313 C A snp 258.77 0/1 99 22 12 10 0.45 intronic rs77855142 CLCN7 AU,AD NM_001114331 exon19 c.12557+125C>A 0.272165 0.2034 Uncertain 16_1509314_T->G 16 1509314 1509314 T G snp 287.77 0/1 99 22 12 10 0.45 intronic rs74322752 CLCN7 AU,AD NM_001114331 exon19 c.12557+126T>G 0.272165 0.2034 Uncertain 16_1509320_C->G 16 1509320 1509320 C G snp 269.77 0/1 99 19 10 9 0.47 intronic CLCN7 AU,AD NM_001114331 exon19 c.12557+132C>G Uncertain 16_1509323_AA->- 16 1509323 1509324 AA - indel 274.73 0/1 99 19 11 8 0.42 intronic rs570237198 CLCN7 AU,AD NM_001114331 exon19 c.12557+135_12557+136delAA Uncertain 16_1509336_C->T 16 1509336 1509336 C T snp 182.77 0/1 99 18 11 7 0.39 intronic rs75438786 CLCN7 AU,AD NM_001114331 exon19 c.12557+148C>T Uncertain 16_1509347_A->G 16 1509347 1509347 A G snp 92.77 0/1 99 12 8 4 0.33 intronic CLCN7 AU,AD NM_001114331 exon19 c.12557+159A>G Uncertain 16_1509350_A->C 16 1509350 1509350 A C snp 31.77 0/1 60 10 7 3 0.3 intronic CLCN7 AU,AD NM_001114331 exon19 c.12557+162A>C Uncertain 16_1509365_A->G 16 1509365 1509365 A G snp 64.77 0/1 93 8 4 4 0.5 intronic rs12164970 CLCN7 AU,AD NM_001114331 exon19 c.12557+177A>G 0.553315 0.2798 Uncertain 16_1510284_A->G 16 1510284 1510284 A G snp 73.78 0/1 24 4 1 3 0.75 intronic rs6600148 CLCN7 AU,AD NM_001114331 exon20 c.13787-134A>G 0.54353 0.2679 Uncertain 16_1510567_T->G 16 1510567 1510567 T G snp 1731.77 0/1 99 162 83 79 0.49 intronic rs2072950 CLCN7 AU,AD NM_001114331 exon20 c.13897+39T>G 0.67492 0.3194 0.754078 0.6666 0.3655 Uncertain 16_1511552_G->T 16 1511552 1511552 G T snp 275.77 0/1 99 38 24 14 0.37 intronic rs2744994 CLCN7 AU,AD NM_001114331 exon23 c.14972-51G>T 0.542332 0.2619 0.614219 Uncertain 16_1515162_C->T 16 1515162 1515162 C T snp 111.77 0/1 99 9 5 4 0.44 intronic rs2235580 CLCN7 AU,AD NM_001287 exon24 c.18636-105C>T 0.371605 0.252 Uncertain 16_1515428_G->A 16 1515428 1515428 G A snp 304.77 0/1 99 23 10 13 0.57 intronic rs117155696 CLCN7 AU,AD NM_001287 exon24 c.18708+89G>A 0.00159744 0.0079 Uncertain 16_1524261_G->T 16 1524261 1524261 G T snp 722.77 0/1 99 68 33 35 0.51 intronic rs28550432 CLCN7 AU,AD NM_001114331 exon24 c.28203-573G>T 0.635583 0.7093 Uncertain 16_1536323_A->G 16 1536323 1536323 A G snp 2324.77 0/1 99 201 92 109 0.54 exonic rs2667671 PTX4 AU synonymous SNV NM_001013658 exon3 c.T1039C p.L347L 0.310104 0.0665 0.347746 0.2392 0.0625 Uncertain 16_1536380_G->T 16 1536380 1536380 G T snp 3106.77 0/1 99 244 113 131 0.54 exonic rs2667672 PTX4 AU nonsynonymous SNV NM_001013658 exon3 c.C982A p.L328M 0.309904 0.0665 0.354285 0.2393 0.0621 0.16 T 0.0 P -1.084 T 0.818 T 0.21 P Pathogenic 16_1536499_G->T 16 1536499 1536499 G T snp 2245.77 0/1 99 201 100 101 0.5 exonic rs2745097 PTX4 AU nonsynonymous SNV NM_001013658 exon3 c.C863A p.A288D 0.279353 0.0665 0.319972 0.2330 0.0619 0.12 T 0.002 P -1.032 T 0.013 T 0.013 T Pathogenic 16_1536535_C->T 16 1536535 1536535 C T snp 1821.77 0/1 99 144 69 75 0.52 exonic rs2745098 PTX4 AU nonsynonymous SNV NM_001013658 exon3 c.G827A p.R276K 0.496406 0.5238 0.472150 0.4069 0.5328 1 T 0.0 P -0.916 T 0.0 T 0.0 T Pathogenic 16_1537455_T->C 16 1537455 1537455 T C snp 373.77 0/1 99 41 24 17 0.41 exonic rs2667673 PTX4 AU nonsynonymous SNV NM_001013658 exon2 c.A643G p.R215G 0.535743 0.5238 0.474749 0.4169 0.5259 0.46 T 0.0 P -0.984 T 0.001 T 0.002 T Pathogenic 16_1537458_G->T 16 1537458 1537458 G T snp 369.77 0/1 99 40 23 17 0.42 exonic rs2745099 PTX4 AU nonsynonymous SNV NM_001013658 exon2 c.C640A p.H214N 0.0652955 0.0526 0.079849 0.0821 0.0525 0.34 T 0.0 P -0.956 T 0.007 T 0.005 T Pathogenic 16_1537601_A->G 16 1537601 1537601 A G snp 463.77 0/1 99 48 29 19 0.4 exonic rs2667674 PTX4 AU nonsynonymous SNV NM_001013658 exon2 c.T497C p.L166P 0.0680911 0.0526 0.080289 0.0912 0.0562 0.01 T 0.081 P -1.099 T 1.0 D 0.995 D Pathogenic 16_1537839_G->A 16 1537839 1537839 G A snp 2302.77 0/1 99 242 142 100 0.41 exonic rs2745101 PTX4 AU nonsynonymous SNV NM_001013658 exon2 c.C259T p.R87W 0.266174 0.5079 0.215440 0.2431 0.5192 0.01 T 0.0 P -0.911 T 0.007 T 0.003 T Pathogenic 16_1538363_C->A 16 1538363 1538363 C A snp 1187.77 0/1 99 141 87 54 0.38 exonic rs1040499 PTX4 AU nonsynonymous SNV NM_001013658 exon1 c.G106T p.G36C 0.499601 0.5119 0.480612 0.4071 0.5220 0.14 T 0.0 P -1.058 T 0.0 T 0.0 T Pathogenic 16_1538433_A->G 16 1538433 1538433 A G snp 1277.77 0/1 99 164 100 64 0.39 exonic rs2745102 PTX4 AU synonymous SNV NM_001013658 exon1 c.T36C p.P12P 0.270567 0.499 0.223111 0.2485 0.5042 Uncertain 16_1538464_C->T 16 1538464 1538464 C T snp 1173.77 0/1 99 142 85 57 0.4 exonic rs2745103 PTX4 AU nonsynonymous SNV NM_001013658 exon1 c.G5A p.G2E 0.257788 0.497 0.213725 0.2451 0.5016 0 D 0.0 P -0.915 T 0.18 T 0.068 T Pathogenic 16_1538692_A->C 16 1538692 1538692 A C snp 1093.77 0/1 99 94 50 44 0.47 upstream rs2667675 PTX4 AU 0.276558 0.5427 Uncertain 16_1544301_G->C 16 1544301 1544301 G C snp 2939.77 0/1 99 250 135 115 0.46 exonic rs2667660 TELO2 AR nonsynonymous SNV NM_016111 exon2 c.G19C p.E7Q 0.287939 0.5119 0.016310 0.2522 0.5106 0.54 T 0.0 P -0.908 T 0.002 T 0.001 T Pathogenic 16_1544302_A->G 16 1544302 1544302 A G snp 2934.77 0/1 99 250 135 115 0.46 exonic rs2667661 TELO2 AR nonsynonymous SNV NM_016111 exon2 c.A20G p.E7G 0.28774 0.5119 0.013771 0.2521 0.5099 0.39 T 0.0 P -0.904 T 0.0 T 0.0 T Pathogenic 16_1545448_A->G 16 1545448 1545448 A G snp 1076.77 0/1 99 97 46 51 0.53 exonic rs2235624 TELO2 AR nonsynonymous SNV NM_016111 exon3 c.A437G p.Q146R 0.463658 0.5724 0.483431 0.6083 0.6250 0.48 T 0.0 P -1.003 T 0.346 T 0.052 T Pathogenic 16_1547220_C->T 16 1547220 1547220 C T snp 220.84 1/1 18 6 0 6 1.0 intronic rs2235630 TELO2 AR NM_016111 exon4 c.2823+115C>T 0.519369 0.4345 Uncertain 16_1549344_C->- 16 1549344 1549344 C - indel 4451.73 0/1 99 241 115 126 0.52 intronic rs11344586 TELO2 AR NM_016111 exon6 c.5052+10delC 0.392173 0.3363 0.332961 0.3251 0.2815 Uncertain 16_1557794_A->T 16 1557794 1557794 A T snp 493.77 1/1 39 17 0 17 1.0 intronic rs12927760 TELO2 AR NM_016111 exon20 c.13435+77A>T 0.890974 0.8135 Uncertain 16_1573810_A->G 16 1573810 1573810 A G snp 4123.77 1/1 99 148 0 148 1.0 intronic rs2745176 IFT140 AR NM_014714 exon7 c.12884-18A>G 0.984425 1 0.963912 0.9645 0.9999 Uncertain 16_1574921_C->T 16 1574921 1574921 C T snp 771.77 0/1 99 66 33 33 0.5 splicing rs113784788 IFT140 AR NM_014714 exon9 c.13973+4C>T 0.000199681 1.708e-05 0 ID=COSM1608946;OCCURENCE=2(liver) Pathogenic 16_1578373_C->G 16 1578373 1578373 C G snp 405.77 0/1 99 33 15 18 0.55 intronic rs140400369 IFT140 AR NM_014714 exon12 c.15853+1576C>G 0.013778 0.001 Uncertain 16_1664931_T->C 16 1664931 1664931 T C snp 955.77 0/1 99 82 40 42 0.51 exonic rs7201813 CRAMP1L AU synonymous SNV NM_020825 exon1 c.T291C p.D97D 0.701078 0.7371 0.6752 0.7424 Uncertain 16_1696958_C->T 16 1696958 1696958 C T snp 853.77 0/1 99 99 63 36 0.36 intronic rs118070956 CRAMP1L AU NM_020825 exon6 c.37856-5538C>T 0.00239617 0.0119 Uncertain 16_1716010_A->C 16 1716010 1716010 A C snp 1472.77 1/1 99 51 0 51 1.0 intronic rs8058190 CRAMP1L AU NM_020825 exon14 c.51433-63A>C 0.821286 0.8909 Uncertain 16_1730311_A->G 16 1730311 1730311 A G snp 312.77 0/1 99 29 14 15 0.52 intronic rs2235487 HN1L AU NM_144570 exon1 c.44+1954A>G 0.189896 0.2381 Uncertain 16_1784876_AGTG->- 16 1784876 1784879 AGTG - indel 2573.73 0/1 99 107 63 44 0.41 intronic rs111246013 MAPK8IP3 AU NM_001040439 exon4 c.23239+5297_23239+5300delAGTG 0.0613019 0.123 Uncertain 16_1813523_G->A 16 1813523 1813523 G A snp 526.77 0/1 99 37 19 18 0.49 intronic rs3751828 MAPK8IP3 AU NM_001040439 exon16 c.57317-134G>A 0.292133 0.2599 Uncertain 16_1813644_A->G 16 1813644 1813644 A G snp 2623.77 0/1 99 250 136 114 0.46 intronic rs190928162 MAPK8IP3 AU NM_001040439 exon16 c.57317-13A>G 0.00459265 0.0129 0.000079 0.0036 0.0221 Uncertain 16_1814019_G->C 16 1814019 1814019 G C snp 225.77 0/1 99 11 4 7 0.64 intronic rs2974846 MAPK8IP3 AU NM_001040439 exon17 c.57775-96G>C 0.372204 0.3472 Uncertain 16_1814440_A->G 16 1814440 1814440 A G snp 396.77 0/1 99 41 24 17 0.41 exonic rs2294619 MAPK8IP3 AU nonsynonymous SNV NM_001040439 exon18 c.A2239G p.T747A 0.295927 0.2639 0.231314 0.2716 0.2727 0.69 T 0.000 P -0.940 T 0.0 T 0.002 T Pathogenic 16_1814964_C->T 16 1814964 1814964 C T snp 676.77 0/1 99 48 22 26 0.54 intronic rs2294621 MAPK8IP3 AU NM_001040439 exon19 c.58673-49C>T 0.314497 0.2589 0.260538 0.2450 0.2388 Uncertain 16_1815946_C->T 16 1815946 1815946 C T snp 3164.77 0/1 99 250 122 128 0.51 intronic rs2575371 MAPK8IP3 AU NM_001040439 exon20 c.59620-14C>T 0.296126 0.2659 0.423376 0.4943 0.3035 Uncertain 16_1817397_T->G 16 1817397 1817397 T G snp 344.78 1/1 27 9 0 9 1.0 intronic rs2575368 MAPK8IP3 AU NM_001040439 exon25 c.60958+99T>G 0.921925 0.9246 Uncertain 16_1817754_A->G 16 1817754 1817754 A G snp 3371.77 1/1 99 108 0 108 1.0 intronic rs2076427 MAPK8IP3 AU NM_001040439 exon26 c.61396+18A>G 0.76857 0.6488 0.822376 0.7897 0.6541 Uncertain 16_1817768_T->G 16 1817768 1817768 T G snp 3623.77 1/1 99 115 0 115 1.0 intronic rs2076428 MAPK8IP3 AU NM_001040439 exon26 c.61396+32T>G 0.767971 0.6448 0.821835 0.7894 0.6542 Uncertain 16_1817935_A->C 16 1817935 1817935 A C snp 4734.77 1/1 99 176 0 176 1.0 intronic rs2076429 MAPK8IP3 AU NM_001040439 exon27 c.61579+16A>C 0.770767 0.6558 0.822714 0.7899 0.6576 Uncertain 16_1818152_C->T 16 1818152 1818152 C T snp 4754.77 1/1 99 170 0 170 1.0 intronic rs2076430 MAPK8IP3 AU NM_001040439 exon28 c.61768+44C>T 0.765575 0.6488 0.480902 0.7884 0.6550 Uncertain 16_1818153_T->C 16 1818153 1818153 T C snp 4941.77 1/1 99 171 0 171 1.0 intronic rs2437734 MAPK8IP3 AU NM_001040439 exon28 c.61768+45T>C 0.920727 0.9246 0.871105 0.9321 0.9328 Uncertain 16_1818503_G->C 16 1818503 1818503 G C snp 2878.77 1/1 99 98 0 98 1.0 exonic rs2076431 MAPK8IP3 AU synonymous SNV NM_001040439 exon30 c.G3747C p.G1249G 0.762181 0.6448 0.819679 0.7726 0.6642 Uncertain 16_1818680_G->C 16 1818680 1818680 G C snp 3716.77 1/1 99 136 0 136 1.0 intronic rs2072989 MAPK8IP3 AU NM_001040439 exon31 c.62363-23G>C 0.755791 0.6091 0.815525 0.7872 0.6162 Uncertain 16_1820992_T->A 16 1820992 1820992 T A snp 7014.77 1/1 99 246 0 246 1.0 exonic rs11890 NME3 AU synonymous SNV NM_002513 exon4 c.A282T p.V94V 0.763578 0.6369 0.839497 0.7912 0.6495 Uncertain 16_1822797_-->ACCT 16 1822797 1822797 - ACCT indel 1044.73 0/1 99 27 10 17 0.63 splicing rs34595082 MRPS34 AU NM_023936 exon3 c.578-2insACCT 0.432907 0.3929 0.513141 0.5463 0.4533 Pathogenic 16_1823444_C->G 16 1823444 1823444 C G snp 1271.77 0/1 99 118 59 59 0.5 exonic rs761065 EME2 AU synonymous SNV NM_001257370 exon1 c.C216G p.V72V 0.336062 0.2808 0.417654 0.5569 0.3582 Uncertain 16_1824075_A->G 16 1824075 1824075 A G snp 41.77 0/1 66 4 2 2 0.5 intronic rs1033476 EME2 AU NM_001257370 exon3 c.1032-185A>G 0.829872 0.7351 Uncertain 16_1825768_A->C 16 1825768 1825768 A C snp 3217.75 0/1 99 246 112 134 0.54 intronic rs2745169 EME2 AU NM_001257370 exon7 c.2569-29A>C 0.333866 0.2847 0.452755 0.4992 0.2979 Uncertain 16_1826377_A->G 16 1826377 1826377 A G snp 682.77 1/1 51 22 0 22 1.0 downstream rs2235636 EME2 AU 0.890775 0.9018 Uncertain 16_1827836_T->C 16 1827836 1827836 T C snp 1246.77 0/1 99 109 56 53 0.49 exonic rs1178432 SPSB3 AU synonymous SNV NM_080861 exon6 c.A633G p.S211S 0.852835 0.7391 0.899892 0.8592 0.7610 Uncertain 16_1836709_G->C 16 1836709 1836709 G C snp 2081.77 0/1 99 183 99 84 0.46 intronic rs2575351 NUBP2 AU NM_012225 exon3 c.3736-48G>C 0.816294 0.7212 0.855326 0.8047 0.7504 Uncertain 16_1836796_C->A 16 1836796 1836796 C A snp 2286.77 0/1 99 177 88 89 0.5 exonic rs2235648 NUBP2 AU synonymous SNV NM_012225 exon3 c.C174A p.I58I 0.49401 0.4097 0.585888 0.5512 0.4340 Uncertain 16_1837900_T->C 16 1837900 1837900 T C snp 3731.77 1/1 99 126 0 126 1.0 intronic rs344358 NUBP2 AU NM_012225 exon5 c.4920-41T>C 0.996206 1 0.994225 0.9986 1 Uncertain 16_1838640_T->C 16 1838640 1838640 T C snp 698.77 0/1 99 79 46 33 0.42 exonic rs344359 NUBP2 AU nonsynonymous SNV NM_001284502 exon6 c.T295C p.W99R 0.822883 0.7232 0.859541 0.8145 0.7537 Pathogenic 16_1838836_C->G 16 1838836 1838836 C G snp 474.77 0/1 99 43 21 22 0.51 exonic rs1065656 NUBP2 AU nonsynonymous SNV NM_001284502 exon6 c.C491G p.P164R 0.669529 0.5595 Pathogenic 16_1841499_G->A 16 1841499 1841499 G A snp 1138.77 0/1 99 140 91 49 0.35 exonic rs34297640 IGFALS AU nonsynonymous SNV NM_004970 exon2 c.C920T p.P307L 0.00159744 0.0079 0.0003 0.0041 0.1 T 1 D 0.309 D 1.0 D 1.0 D Pathogenic 16_1842209_A->G 16 1842209 1842209 A G snp 2180.77 0/1 99 162 73 89 0.55 exonic rs3751893 IGFALS AU synonymous SNV NM_004970 exon2 c.T210C p.D70D 0.784145 0.7272 0.819855 0.8018 0.7458 Uncertain 16_1843672_T->C 16 1843672 1843672 T C snp 362.77 0/1 99 50 31 19 0.38 UTR5 rs3817902 IGFALS AU 0.66873 0.5665 0.717620 0.6999 0.5971 Uncertain 16_1844781_A->G 16 1844781 1844781 A G snp 472.77 0/1 99 35 17 18 0.51 intergenic rs2256923 IGFALS AU 0.679313 0.5784 Uncertain 16_1859638_T->C 16 1859638 1859638 T C snp 205.77 0/1 99 18 11 7 0.39 intronic rs2076449 HAGH AD NM_005326 exon2 c.471-116T>C 0.821685 0.8313 Uncertain 16_1866873_C->T 16 1866873 1866873 C T snp 716.77 0/1 99 49 22 27 0.55 intronic rs11862755 HAGH AD NM_005326 exon3 c.7610-20C>T 0.0654952 0.1171 0.054393 0.0664 0.1345 Uncertain 16_1867014_G->C 16 1867014 1867014 G C snp 1514.77 0/1 99 151 87 64 0.42 intronic rs11863390 HAGH AD NM_005326 exon3 c.7712+19G>C 0.110224 0.1181 0.100554 0.0786 0.1360 Uncertain 16_1867040_T->C 16 1867040 1867040 T C snp 1294.77 0/1 99 133 79 54 0.41 intronic rs11860469 HAGH AD NM_005326 exon3 c.7712+45T>C 0.110224 0.1181 0.100015 0.0780 0.1353 Uncertain 16_1867338_C->G 16 1867338 1867338 C G snp 1110.77 0/1 99 83 39 44 0.53 intronic rs74002493 HAGH AD NM_005326 exon4 c.7989+66C>G 0.109824 0.1181 Uncertain 16_1867370_C->A 16 1867370 1867370 C A snp 776.77 0/1 99 55 25 30 0.55 intronic rs112575251 HAGH AD NM_005326 exon4 c.7989+98C>A 0.110224 0.1181 Uncertain 16_1869326_T->C 16 1869326 1869326 T C snp 1627.77 1/1 99 50 0 50 1.0 intronic rs2076452 HAGH AD NM_005326 exon5 c.9941+102T>C 0.31889 0.4683 Uncertain 16_1869383_C->T 16 1869383 1869383 C T snp 188.77 0/1 99 12 6 6 0.5 intronic rs56226103 HAGH AD NM_005326 exon5 c.9941+159C>T 0.109625 0.1181 Uncertain 16_1870038_GGGCTGCCTGCTGAGCTGAGG->- 16 1870038 1870058 GGGCTGCCTGCTGAGCTGAGG - indel 6261.73 0/1 99 147 45 102 0.69 intronic rs144480059 HAGH AD NM_005326 exon6 c.10732+23_10732+43delGGGCTGCCTGCTGAGCTGAGG 0.646766 0.5606 0.6833 Uncertain 16_1870133_G->A 16 1870133 1870133 G A snp 679.77 0/1 99 33 10 23 0.7 intronic rs55786131 HAGH AD NM_005326 exon6 c.10732+118G>A 0.109225 0.1181 Uncertain 16_1870147_C->G 16 1870147 1870147 C G snp 615.77 0/1 99 24 5 19 0.79 intronic rs56309238 HAGH AD NM_005326 exon6 c.10732+132C>G 0.109225 0.1181 Uncertain 16_1872160_G->A 16 1872160 1872160 G A snp 661.77 0/1 99 59 33 26 0.44 intronic rs238680 HAGH AD NM_005326 exon7 c.13017-140G>A 0.685503 0.7361 Uncertain 16_1872187_T->C 16 1872187 1872187 T C snp 970.77 0/1 99 88 45 43 0.49 intronic rs55791023 HAGH AD NM_005326 exon7 c.13017-113T>C 0.109026 0.119 Uncertain 16_1872479_A->G 16 1872479 1872479 A G snp 181.77 0/1 99 21 12 9 0.43 intronic rs238679 HAGH AD NM_005326 exon7 c.13082+114A>G 0.755591 0.7907 Uncertain 16_1872722_A->G 16 1872722 1872722 A G snp 86.28 1/1 9 3 0 3 1.0 intronic rs238678 HAGH AD NM_005326 exon8 c.13582-143A>G 0.822284 0.9097 Uncertain 16_1872752_T->C 16 1872752 1872752 T C snp 144.77 0/1 99 14 8 6 0.43 intronic rs11641257 HAGH AD NM_005326 exon8 c.13582-113T>C 0.0676917 0.119 Uncertain 16_1873083_T->G 16 1873083 1873083 T G snp 405.77 0/1 99 29 13 16 0.55 intronic rs28416063 HAGH AD NM_005326 exon8 c.13755+45T>G 0.0740815 0.119 0.045028 0.0593 0.1273 Uncertain 16_1876949_G->C 16 1876949 1876949 G C snp 336.77 0/1 99 28 14 14 0.5 UTR5 rs7188401 HAGH AD 0.39397 0.3095 Uncertain 16_1877175_G->A 16 1877175 1877175 G A snp 966.77 0/1 99 60 23 37 0.62 UTR5 rs28364709 HAGH AD 0.202077 0.1726 Uncertain 16_1877494_T->C 16 1877494 1877494 T C snp 1555.77 0/1 99 163 96 67 0.41 exonic rs3743854 FAHD1 AU synonymous SNV NM_001018104 exon1 c.T264C p.A88A 0.201078 0.1746 0.160786 0.1901 0.1533 Uncertain 16_1877558_G->A 16 1877558 1877558 G A snp 1666.77 0/1 99 164 92 72 0.44 exonic rs3743853 FAHD1 AU nonsynonymous SNV NM_001018104 exon1 c.G328A p.D110N 0.136382 0.1667 0.111863 0.1639 0.1498 0.39 T 1.000 P -0.981 T 0.002 T 0.005 T Pathogenic 16_1878031_G->A 16 1878031 1878031 G A snp 314.77 0/1 99 19 6 13 0.68 UTR3 rs1143032 FAHD1 AU 0.136382 0.1667 Uncertain 16_1878032_C->T 16 1878032 1878032 C T snp 309.77 0/1 99 19 6 13 0.68 UTR3 rs1143033 FAHD1 AU 0.201078 0.1736 Uncertain 16_1878067_C->G 16 1878067 1878067 C G snp 86.78 0/1 24 4 1 3 0.75 UTR3 rs1143034 FAHD1 AU 0.201078 0.1736 Uncertain 16_1887665_A->G 16 1887665 1887665 A G snp 56.74 1/1 6 2 0 2 1.0 intronic rs59651420 FAHD1 AU NM_001018104 exon2 c.10786-351A>G 0.201278 0.1736 Uncertain 16_1887888_T->- 16 1887888 1887888 T - indel 931.73 0/1 99 57 24 33 0.58 intronic rs141132983 FAHD1 AU NM_001018104 exon2 c.10786-128delT 0.198482 0.1746 0.1944 0.1527 ID=COSN168907;OCCURENCE=1(large_intestine) Uncertain 16_1887937_C->T 16 1887937 1887937 C T snp 593.77 0/1 99 42 21 21 0.5 intronic rs66509847 FAHD1 AU NM_001018104 exon2 c.10786-79C>T 0.201278 0.1736 Uncertain 16_1888177_G->T 16 1888177 1888177 G T snp 467.77 0/1 99 48 29 19 0.4 intronic rs67309640 FAHD1 AU NM_001018104 exon2 c.10905+42G>T 0.185304 0.1667 0.1540 0.15 Uncertain 16_1888264_G->C 16 1888264 1888264 G C snp 40.77 0/1 69 6 4 2 0.33 intronic rs62038405 FAHD1 AU NM_001018104 exon2 c.10905+129G>C 0.201278 0.1736 Uncertain 16_1889189_A->G 16 1889189 1889189 A G snp 995.77 0/1 99 79 35 44 0.56 intronic rs55829224 FAHD1 AU NM_001142398 exon2 c.12032-73A>G 0.201278 0.1736 Uncertain 16_1891723_C->T 16 1891723 1891723 C T snp 43.77 0/1 72 6 4 2 0.33 intronic rs11647044 MEIOB AU NM_001163560 exon4 c.7564-97C>T 0.201478 0.1736 Uncertain 16_1891724_A->G 16 1891724 1891724 A G snp 43.77 0/1 72 6 4 2 0.33 intronic rs11642119 MEIOB AU NM_001163560 exon4 c.7564-96A>G 0.201478 0.1736 Uncertain 16_1894852_C->G 16 1894852 1894852 C G snp 594.77 0/1 99 61 34 27 0.44 intronic rs9806825 MEIOB AU NM_001163560 exon5 c.10606-10C>G 0.201478 0.1736 0.159379 0.2103 0.1679 Uncertain 16_1894912_C->T 16 1894912 1894912 C T snp 1492.77 1/1 99 59 0 59 1.0 exonic rs9806826 MEIOB AU synonymous SNV NM_001163560 exon10 c.G831A p.T277T 0.370208 0.4246 0.303072 0.3382 0.4352 Uncertain 16_1894961_A->G 16 1894961 1894961 A G snp 414.77 0/1 99 41 22 19 0.46 exonic rs9806945 MEIOB AU nonsynonymous SNV NM_001163560 exon10 c.T782C p.I261T 0.201677 0.1736 0.162705 0.1989 0.1581 0.69 T 0.000 P -0.983 T 0.0 T 0.0 T Pathogenic 16_1895030_T->A 16 1895030 1895030 T A snp 74.77 0/1 99 9 6 3 0.33 intronic rs4598914 MEIOB AU NM_001163560 exon5 c.10708+66T>A 0.201478 0.1736 Uncertain 16_1895031_C->G 16 1895031 1895031 C G snp 77.77 0/1 99 8 5 3 0.38 intronic rs4644862 MEIOB AU NM_001163560 exon5 c.10708+67C>G 0.201478 0.1736 Uncertain 16_1904322_G->C 16 1904322 1904322 G C snp 254.77 0/1 99 16 8 8 0.5 intronic rs1742423 MEIOB AU NM_001163560 exon8 c.19945+121G>C 0.816294 0.8343 Uncertain 16_1907652_G->A 16 1907652 1907652 G A snp 817.77 0/1 99 54 24 30 0.56 intronic rs428123 MEIOB AU NM_001163560 exon9 c.23479-83G>A 0.815495 0.8313 Uncertain 16_1907701_A->C 16 1907701 1907701 A C snp 1214.77 0/1 99 116 57 59 0.51 intronic rs408286 MEIOB AU NM_001163560 exon9 c.23479-34A>C 0.816294 0.8353 0.452913 0.8219 0.85 Uncertain 16_1907702_G->A 16 1907702 1907702 G A snp 1230.77 0/1 99 115 56 59 0.51 intronic rs427948 MEIOB AU NM_001163560 exon9 c.23479-33G>A 0.816294 0.8353 0.456198 0.8218 0.85 Uncertain 16_1907946_C->T 16 1907946 1907946 C T snp 349.77 0/1 99 27 14 13 0.48 intronic rs411193 MEIOB AU NM_001163560 exon9 c.23675+15C>T 0.815495 0.8313 0.840561 0.8222 0.8444 Uncertain 16_1910219_A->T 16 1910219 1910219 A T snp 83.77 0/1 67 5 2 3 0.6 intronic rs391288 MEIOB AU NM_001163560 exon10 c.26147-184A>T 0.815895 0.8333 Uncertain 16_1910373_C->G 16 1910373 1910373 C G snp 1138.77 0/1 99 91 45 46 0.51 intronic rs433268 MEIOB AU NM_001163560 exon10 c.26147-30C>G 0.812899 0.8185 0.840780 0.8220 0.8285 Uncertain 16_1912021_T->G 16 1912021 1912021 T G snp 2635.77 0/1 99 250 139 111 0.44 exonic rs1657125 MEIOB AU nonsynonymous SNV NM_001163560 exon4 c.A224C p.K75T 0.167133 0.2421 0.142138 0.1515 0.2846 0.36 T 0.000 P -0.939 T 0.027 T 0.012 T Pathogenic 16_1912139_T->C 16 1912139 1912139 T C snp 1587.77 0/1 99 155 93 62 0.4 intronic rs380846 MEIOB AU NM_001163560 exon11 c.27861+22T>C 0.792732 0.7411 0.839904 0.8103 0.7036 Uncertain 16_1912205_T->C 16 1912205 1912205 T C snp 477.77 0/1 99 39 21 18 0.46 intronic rs1657126 MEIOB AU NM_001163560 exon11 c.27861+88T>C 0.165535 0.2341 Uncertain 16_1915585_G->T 16 1915585 1915585 G T snp 90.28 1/1 9 3 0 3 1.0 intronic rs2917521 MEIOB AU NM_001163560 exon12 c.31522-193G>T 0.145567 0.1577 Uncertain 16_1915886_T->A 16 1915886 1915886 T A snp 288.77 0/1 99 26 14 12 0.46 intronic rs58422887 MEIOB AU NM_001163560 exon12 c.31580+50T>A 0.124002 0.1577 0.120727 0.1298 0.1544 Uncertain 16_1917998_T->C 16 1917998 1917998 T C snp 661.77 0/1 99 42 14 28 0.67 intronic rs1742444 MEIOB AU NM_001163560 exon13 c.33851-109T>C 0.8125 0.8165 Uncertain 16_1918094_T->G 16 1918094 1918094 T G snp 1276.77 0/1 99 112 50 62 0.55 intronic rs78268797 MEIOB AU NM_001163560 exon13 c.33851-13T>G 0.128395 0.1567 0.123303 0.1361 0.1543 Uncertain 16_1918125_T->G 16 1918125 1918125 T G snp 1202.77 0/1 99 102 46 56 0.55 exonic rs1742446 MEIOB AU nonsynonymous SNV NM_001163560 exon2 c.A52C p.T18P 0.8125 0.8165 0.840999 0.8204 0.8264 1 T 0.000 P -0.958 T 0.0 T 0.0 T Pathogenic 16_1961551_C->T 16 1961551 1961551 C T snp 781.77 0/1 99 59 23 36 0.61 UTR3 rs1657139 HS3ST6 AU 0.136981 0.1855 0.111714 0.2174 0.2220 Uncertain 16_1961674_G->C 16 1961674 1961674 G C snp 5050.77 1/1 99 169 1 168 0.99 exonic rs337285 HS3ST6 AU nonsynonymous SNV NM_001009606 exon2 c.C946G p.L316V 0.595647 0.5188 0.561809 0.5915 0.5440 1 T 0.000 P -0.940 T 0.0 T 0.0 T Pathogenic 16_1962046_C->T 16 1962046 1962046 C T snp 5663.77 1/1 99 207 1 206 1.0 exonic rs1742399 HS3ST6 AU nonsynonymous SNV NM_001009606 exon2 c.G574A p.A192T 0.40016 0.4931 0.300678 0.3865 0.4989 1 T 0.397 P -0.948 T 0.085 T 0.017 T Pathogenic 16_1962047_G->A 16 1962047 1962047 G A snp 5779.77 1/1 99 207 0 207 1.0 exonic rs1657140 HS3ST6 AU synonymous SNV NM_001009606 exon2 c.C573T p.Y191Y 0.391573 0.4643 0.304361 0.3804 0.4718 Uncertain 16_1962132_G->A 16 1962132 1962132 G A snp 4976.77 1/1 99 183 0 183 1.0 exonic rs8055325 HS3ST6 AU nonsynonymous SNV NM_001009606 exon2 c.C488T p.A163V 0.47504 0.498 0.360049 0.4302 0.5173 0.6 T 1.000 P -0.958 T 0.712 T 0.446 P Pathogenic 16_1990994_T->C 16 1990994 1990994 T C snp 3261.77 0/1 99 249 132 117 0.47 intronic rs13331553 MSRB1 AU NM_016332 exon2 c.1781+101T>C 0.459065 0.5456 0.4260 0.5984 0 D 0.000 P -0.961 T Uncertain 16_1991513_G->C 16 1991513 1991513 G C snp 657.77 0/1 99 37 15 22 0.59 intronic rs9934331 MSRB1 AU NM_016332 exon3 c.2294+107G>C 0.263578 0.4762 Uncertain 16_1994647_T->C 16 1994647 1994647 T C snp 56.74 1/1 6 2 0 2 1.0 UTR3 rs2531331 RPL3L AU 0.595048 0.6925 Uncertain 16_1994743_G->A 16 1994743 1994743 G A snp 1823.77 1/1 99 65 0 65 1.0 UTR3 rs2754179 RPL3L AU 0.514776 0.6329 Uncertain 16_1994749_A->C 16 1994749 1994749 A C snp 1963.77 1/1 99 73 0 73 1.0 UTR3 rs2531332 RPL3L AU 0.558506 0.6339 Uncertain 16_1994931_-->AAGAG 16 1994931 1994931 - AAGAG indel 8356.73 1/1 99 101 0 101 1.0 intronic rs61276345 RPL3L AU NM_005061 exon1 c.57+37insAAGAG 0.554912 0.6339 0.421069 0.4447 0.5897 Uncertain 16_1994980_G->T 16 1994980 1994980 G T snp 665.77 0/1 99 44 19 25 0.57 intronic rs11640479 RPL3L AU NM_005061 exon1 c.57+86G>T 0.417332 0.4732 Uncertain 16_1996075_G->A 16 1996075 1996075 G A snp 957.77 1/1 36 27 1 26 0.96 intronic rs1003904 RPL3L AU NM_005061 exon3 c.1094+144G>A 0.561102 0.6359 Uncertain 16_1996535_-->A 16 1996535 1996535 - A indel 1617.73 1/1 99 39 0 39 1.0 intronic rs35725974 RPL3L AU NM_005061 exon4 c.1788-90insA 0.524561 0.6419 Uncertain 16_2002896_C->T 16 2002896 2002896 C T snp 893.77 0/1 99 92 51 41 0.45 exonic rs181595812 RPL3L AU nonsynonymous SNV NM_005061 exon3 c.G344A p.R115Q 0.00259585 0.0089 0.000154 0.0016 0.0106 0.02 T 0.978 D -1.018 T 0.941 T 0.126 D Pathogenic 16_2004718_T->C 16 2004718 2004718 T C snp 1202.77 1/1 84 49 0 49 1.0 upstream rs2815301 RPL3L AU 0.842652 0.881 0.839859 Uncertain 16_2009697_C->T 16 2009697 2009697 C T snp 7452.77 1/1 99 250 0 250 1.0 exonic rs2302175 NDUFB10 AU synonymous SNV NM_004548 exon1 c.C72T p.I24I 0.120208 0.3075 0.065472 0.0581 0.3068 ID=COSM3957274;OCCURENCE=1(lung) Uncertain 16_2011126_A->G 16 2011126 2011126 A G snp 868.77 1/1 66 25 0 25 1.0 intronic rs758335 NDUFB10 AU NM_004548 exon2 c.1528-27A>G 0.867612 0.8909 0.858901 0.8263 0.8920 Uncertain 16_2011874_A->G 16 2011874 2011874 A G snp 1358.77 0/1 99 104 50 54 0.52 exonic rs78924571 NDUFB10 AU synonymous SNV NM_004548 exon4 c.A486G p.K162K 0.0071885 0.0347 0.0046 0.0768 Uncertain 16_2014031_C->G 16 2014031 2014031 C G snp 554.77 1/1 42 19 0 19 1.0 intronic rs6366 RPS2 AU NM_002952 exon5 c.2178-245C>G 0.852436 0.8651 Uncertain 16_2014283_A->G 16 2014283 2014283 A G snp 1433.77 1/1 99 52 0 52 1.0 exonic rs2286466 RPS2 AU synonymous SNV NM_002952 exon3 c.T261C p.P87P 0.86262 0.8681 0.856286 0.8196 0.8553 Uncertain 16_2015121_C->T 16 2015121 2015121 C T snp 99.28 1/1 9 4 0 4 1.0 ncRNA_exonic rs1133099 SNHG9 AU 0.214058 0.3046 Uncertain 16_2015393_T->C 16 2015393 2015393 T C snp 5445.77 1/1 99 208 0 208 1.0 ncRNA_intronic rs7193011 SNHG9 AU 0.112819 0.3046 Uncertain 16_2017071_G->A 16 2017071 2017071 G A snp 1162.77 1/1 87 33 0 33 1.0 intronic rs72633262 RNF151 AU NM_174903 exon1 c.3+186G>A 0.11222 0.3026 Uncertain 16_2018644_G->T 16 2018644 2018644 G T snp 2444.77 0/1 99 171 67 104 0.61 exonic rs374548754 RNF151 AU synonymous SNV NM_174903 exon4 c.G456T p.P152P 9.27e-05 0.0013 Uncertain 16_2022359_T->C 16 2022359 2022359 T C snp 414.77 1/1 33 11 0 11 1.0 intronic rs4325553 TBL3 AU NM_006453 exon1 c.41+153T>C 0.211062 0.3115 Uncertain 16_2024131_T->C 16 2024131 2024131 T C snp 5672.77 1/1 99 211 0 211 1.0 intronic rs3743851 TBL3 AU NM_006453 exon2 c.1943+23T>C 0.51278 0.4018 0.463764 0.3948 0.4107 Uncertain 16_2028097_C->G 16 2028097 2028097 C G snp 949.77 0/1 99 117 74 43 0.37 intronic rs145545180 TBL3 AU NM_006453 exon19 c.5897+35C>G 0.00299521 0.0139 0.0013 0.0140 Uncertain 16_2028402_A->C 16 2028402 2028402 A C snp 1607.77 0/1 99 117 54 63 0.54 exonic rs8460 TBL3 AU synonymous SNV NM_006453 exon21 c.A2223C p.R741R 0.427716 0.3413 0.404557 0.3523 0.3595 Uncertain 16_2031163_G->T 16 2031163 2031163 G T snp 1742.77 0/1 99 122 51 71 0.58 exonic rs139337010 NOXO1 AU stopgain NM_001267721 exon1 c.C18A p.Y6X 0.000798722 0.004 0.0003 0.0041 0.39 T 1 A Pathogenic 16_2034661_T->C 16 2034661 2034661 T C snp 1891.77 1/1 99 68 0 68 1.0 intronic rs2075812 GFER AU NM_005262 exon2 c.528-86T>C 0.428115 0.3472 Uncertain 16_2035868_C->T 16 2035868 2035868 C T snp 4632.77 1/1 99 161 1 160 0.99 exonic rs1046502 GFER AU synonymous SNV NM_005262 exon3 c.C457T p.L153L 0.230831 0.2937 0.212373 0.1598 0.3286 Uncertain 16_2048826_C->G 16 2048826 2048826 C G snp 3286.77 1/1 99 108 0 108 1.0 exonic rs2240691 ZNF598 AU synonymous SNV NM_178167 exon13 c.G2238C p.A746A 0.456669 0.369 0.452573 0.4412 0.4362 Uncertain 16_2049003_A->T 16 2049003 2049003 A T snp 2953.77 1/1 99 107 0 107 1.0 exonic rs2286468 ZNF598 AU nonsynonymous SNV NM_178167 exon12 c.T2173A p.C725S 0.246605 0.3194 0.184381 0.2753 0.4279 0.72 T 0.015 P -0.923 T 0.047 T 0.013 T Pathogenic 16_2049505_G->A 16 2049505 2049505 G A snp 207.77 0/1 99 39 30 9 0.23 exonic rs535827808 ZNF598 AU nonsynonymous SNV NM_178167 exon11 c.C2045T p.P682L 0.000998403 0.0002 0 0 D 1 D -0.796 T 0.998 D 0.897 D Pathogenic 16_2049640_A->G 16 2049640 2049640 A G snp 4493.77 1/1 99 171 0 171 1.0 exonic rs2286469 ZNF598 AU nonsynonymous SNV NM_178167 exon11 c.T1910C p.M637T 0.575679 0.371 0.643297 0.5456 0.4125 1 T 0.0 P -0.992 T Pathogenic 16_2050293_C->G 16 2050293 2050293 C G snp 1920.77 1/1 99 67 0 67 1.0 intronic rs3743847 ZNF598 AU NM_178167 exon4 c.2025+36C>G 0.16873 0.3234 0.105688 0.0822 0.3621 Uncertain 16_2050346_A->G 16 2050346 2050346 A G snp 2374.77 1/1 99 89 0 89 1.0 intronic rs3743846 ZNF598 AU NM_178167 exon5 c.2159-45A>G 0.323882 0.3294 0.313667 0.2301 0.3681 Uncertain 16_2050635_C->G 16 2050635 2050635 C G snp 84.28 1/1 9 3 0 3 1.0 intronic rs8045302 ZNF598 AU NM_178167 exon5 c.2250+153C>G 0.342053 0.3284 Uncertain 16_2050938_AAAA->- 16 2050938 2050941 AAAA - indel 269.8 1/1 18 6 0 6 1.0 intronic ZNF598 AU NM_178167 exon6 c.2772-66_2772-63delAAAA Uncertain 16_2050951_T->C 16 2050951 2050951 T C snp 225.84 1/1 18 7 0 7 1.0 intronic rs8050923 ZNF598 AU NM_178167 exon6 c.2772-53T>C 0.381789 0.38 Uncertain 16_2050952_A->G 16 2050952 2050952 A G snp 202.84 1/1 18 7 0 7 1.0 intronic rs8046474 ZNF598 AU NM_178167 exon6 c.2772-52A>G 0.376398 0.3562 Uncertain 16_2052806_G->A 16 2052806 2052806 G A snp 967.77 0/1 99 63 27 36 0.57 intronic rs55662859 ZNF598 AU NM_178167 exon9 c.4501+73G>A 0.231829 0.3274 Uncertain 16_2059622_C->- 16 2059622 2059622 C - indel 2329.73 1/1 99 61 0 61 1.0 splicing rs11366527 ZNF598 AU NM_178167 exon13 c.11390delC 1 1 0.998669 1 1 Pathogenic 16_2059674_T->C 16 2059674 2059674 T C snp 1048.77 1/1 75 42 0 42 1.0 exonic rs71384660 ZNF598 AU nonsynonymous SNV NM_178167 exon2 c.A74G p.E25G 1 1 1 1 0.39 T 0.000 P -0.982 T Pathogenic 16_2059698_T->G 16 2059698 2059698 T G snp 797.77 1/1 57 30 0 30 1.0 exonic rs71384661 ZNF598 AU nonsynonymous SNV NM_178167 exon2 c.A50C p.E17A 1 1 0.9995 1 0.76 T 0.0 P -0.989 T Pathogenic 16_2059708_T->G 16 2059708 2059708 T G snp 772.77 1/1 57 28 0 28 1.0 exonic rs71384662 ZNF598 AU nonsynonymous SNV NM_178167 exon2 c.A40C p.M14L 1 1 1 1 0.75 T 0.0 P -0.996 T Pathogenic 16_2059710_T->G 16 2059710 2059710 T G snp 794.77 1/1 57 28 0 28 1.0 exonic rs71384663 ZNF598 AU nonsynonymous SNV NM_178167 exon2 c.A38C p.D13A 1 1 1 1 0.59 T 0.0 P -0.992 T Pathogenic 16_2059737_G->- 16 2059737 2059737 G - indel 540.73 1/1 42 15 0 15 1.0 splicing rs71148116 ZNF598 AU NM_178167 exon14 c.11505delG 0.999002 1 0.985294 1 . Pathogenic 16_2059763_C->- 16 2059763 2059763 C - indel 255.75 1/1 24 9 0 9 1.0 UTR5 rs71148117 ZNF598 AU 0.9998 1 0.941176 0 . Uncertain 16_2059779_T->- 16 2059779 2059779 T - indel 189.87 1/1 15 7 0 7 1.0 UTR5 rs71148118 ZNF598 AU 0.998602 1 0 . Uncertain 16_2059782_T->C 16 2059782 2059782 T C snp 143.03 1/1 12 5 0 5 1.0 UTR5 rs71384664 ZNF598 AU 0 . Uncertain 16_2059790_A->C 16 2059790 2059790 A C snp 99.28 1/1 9 4 0 4 1.0 UTR5 rs968417 ZNF598 AU 0 . Uncertain 16_2059866_C->G 16 2059866 2059866 C G snp 214.84 1/1 18 6 0 6 1.0 upstream rs67529412 ZNF598 AU Uncertain 16_2059939_A->C 16 2059939 2059939 A C snp 3698.77 1/1 99 113 0 113 1.0 upstream rs968418 ZNF598 AU 1 1 0.9999 1 Uncertain 16_2059955_A->G 16 2059955 2059955 A G snp 4572.77 1/1 99 153 0 153 1.0 upstream rs62038790 ZNF598 AU 1 1 1 1 Uncertain 16_2086535_A->G 16 2086535 2086535 A G snp 255.77 0/1 99 17 9 8 0.47 intronic rs41286703 SLC9A3R2 AU NM_001130012 exon3 c.9498+31A>G 0.145966 0.0595 0.118606 0.0870 0.0940 Uncertain 16_2087452_-->G 16 2087452 2087452 - G indel 697.73 0/1 99 64 32 32 0.5 intronic rs370455132 SLC9A3R2 AU NM_001130012 exon6 c.10532-86insG Uncertain 16_2087562_G->A 16 2087562 2087562 G A snp 3082.77 0/1 99 246 109 137 0.56 exonic rs1132368 SLC9A3R2 AU synonymous SNV NM_001252073 exon5 c.G483A p.S161S 0.0569089 0.0437 0.062869 0.0518 0.0421 Uncertain 16_2087658_A->G 16 2087658 2087658 A G snp 2227.77 0/1 99 158 69 89 0.56 intronic rs12445258 SLC9A3R2 AU NM_001130012 exon6 c.10595+57A>G 0.341254 0.0437 0.400131 Uncertain 16_2109063_G->T 16 2109063 2109063 G T snp 40.74 1/1 6 2 0 2 1.0 intronic TSC2 AU,AD NM_001114382 exon10 c.10258+189G>T Uncertain 16_2110571_C->G 16 2110571 2110571 C G snp 471.77 0/1 99 42 22 20 0.48 intronic rs2074968 TSC2 AU,AD NM_001114382 exon11 c.12054-99C>G 0.557508 0.7143 Uncertain 16_2111779_T->C 16 2111779 2111779 T C snp 926.77 0/1 99 66 33 33 0.5 intronic rs17135764 TSC2 AU,AD NM_001114382 exon12 c.13255-92T>C 0.610623 0.8155 CLINSIG=untested;CLNDBN=not_provided;CLNREVSTAT=no_assertion_provided;CLNACC=RCV000042398.2;CLNDSDB=MedGen;CLNDSDBID=CN221809 Uncertain 16_2141263_A->G 16 2141263 2141263 A G snp 56.74 1/1 6 2 0 2 1.0 intronic rs39833 PKD1 AD NM_000296 exon4 c.1448+88A>G Uncertain 16_2160494_C->T 16 2160494 2160494 C T snp 1715.77 1/1 99 57 2 55 0.96 exonic rs79884128 PKD1 AD synonymous SNV NM_001009944 exon15 c.G4674A p.T1558T 0.0710863 0.1875 0.054092 0.0757 0.1838 Uncertain 16_2203456_T->C 16 2203456 2203456 T C snp 4273.77 1/1 99 140 0 140 1.0 UTR3 rs26931 RAB26 AU 0.997204 1 0.993300 0.9923 1 Uncertain 16_2213760_-->T 16 2213760 2213760 - T indel 1354.73 1/1 99 33 0 33 1.0 intronic rs3217255 TRAF7 AU 0.233826 0.4861 Uncertain 16_2214128_G->C 16 2214128 2214128 G C snp 189.77 0/1 99 12 4 8 0.67 intronic rs376741241 TRAF7 AU NM_032271 exon2 c.81+126G>C 0.00299521 0.0139 Uncertain 16_2216073_G->C 16 2216073 2216073 G C snp 787.77 1/1 60 20 0 20 1.0 intronic rs8062006 TRAF7 AU NM_032271 exon3 c.2016+136G>C 0.509585 0.4633 Uncertain 16_2223872_T->C 16 2223872 2223872 T C snp 184.77 0/1 99 49 32 17 0.35 intronic rs564678381 TRAF7 AU NM_032271 exon12 c.9916+35T>C 0.273363 0.1617 0.3294 0.4160 Uncertain 16_2233565_T->C 16 2233565 2233565 T C snp 625.28 1/1 9 24 2 22 0.92 intronic rs889495 CASKIN1 AU NM_020764 exon5 c.5096-81T>C 0.700479 0.5873 Uncertain 16_2259390_C->T 16 2259390 2259390 C T snp 1518.77 0/1 99 126 64 62 0.49 exonic rs78285503 BRICD5 AU synonymous SNV NM_182563 exon6 c.G660A p.S220S 0.0113818 0.0546 0.000462 0.0046 0.0588 ID=COSM297222;OCCURENCE=1(large_intestine) Uncertain 16_2259766_A->G 16 2259766 2259766 A G snp 311.77 0/1 91 13 3 10 0.77 intronic rs26858 BRICD5 AU NM_182563 exon2 c.345+59A>G 0.591454 0.621 Uncertain 16_2259865_C->G 16 2259865 2259865 C G snp 185.77 0/1 99 18 11 7 0.39 intronic rs25852 BRICD5 AU NM_182563 exon3 c.588-85C>G 0.636981 0.3294 Uncertain 16_2279370_G->A 16 2279370 2279370 G A snp 709.77 1/1 54 20 0 20 1.0 intronic rs2241071 E4F1 AU NM_004424 exon3 c.5956-200G>A 0.248403 0.4216 Uncertain 16_2282256_G->A 16 2282256 2282256 G A snp 3594.77 1/1 99 138 0 138 1.0 exonic rs26839 E4F1 AU nonsynonymous SNV NM_001288776 exon4 c.G500A p.R167H 0.995607 1 0.992686 0.9933 1 0.17 T 0.0 P -0.971 T 0.245 T 0.042 T Pathogenic 16_2287458_G->T 16 2287458 2287458 G T snp 2449.77 0/1 99 202 100 102 0.5 exonic rs202116861 DNASE1L2 AU nonsynonymous SNV NM_001374 exon5 c.G399T p.K133N 0.000399361 0.002 0.0004 0.0042 0.43 T 0.999 N -0.425 T 1.0 D 0.976 D ID=CM153221;DIS=Abolished enzyme activity;TAG=FP;PUB=25576224 FP Pathogenic 16_2317777_C->G 16 2317777 2317777 C G snp 46.77 0/1 72 5 2 3 0.6 UTR5 rs11646649 RNPS1 AU 0.323482 0.4504 Uncertain 16_2317778_T->G 16 2317778 2317778 T G snp 46.77 0/1 72 5 2 3 0.6 UTR5 rs11642797 RNPS1 AU 0.323482 0.4504 Uncertain 16_2318171_A->- 16 2318171 2318171 A - indel 4297.73 0/1 99 250 123 127 0.51 UTR5 rs143373048 RNPS1 AU 0.331669 0.4494 Uncertain 16_2318335_A->G 16 2318335 2318335 A G snp 289.77 0/1 99 30 20 10 0.33 UTR5 rs155247 RNPS1 AU 0.401957 0.4504 Uncertain 16_2320810_C->T 16 2320810 2320810 C T snp 31.77 0/1 33 3 1 2 0.67 upstream;downstream rs72766672 MIR940;MIR3677 UN 0.0903 0.0909 Uncertain 16_2328790_G->A 16 2328790 2328790 G A snp 837.77 1/1 63 26 0 26 1.0 intronic rs150928 ABCA3 AR NM_001089 exon5 c.2269-153G>A 0.82488 0.9732 Uncertain 16_2331430_A->G 16 2331430 2331430 A G snp 1809.77 1/1 99 73 0 73 1.0 exonic rs149532 ABCA3 AR synonymous SNV NM_001089 exon27 c.T4116C p.S1372S 0.900958 1 0.869421 0.9192 0.9999 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000150112.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 16_2334163_C->A 16 2334163 2334163 C A snp 98.77 0/1 99 15 11 4 0.27 intronic rs45452892 ABCA3 AR NM_001089 exon9 c.7605-116C>A 0.300519 0.504 Uncertain 16_2334554_A->T 16 2334554 2334554 A T snp 717.77 1/1 54 23 0 23 1.0 intronic rs1183064 ABCA3 AR NM_001089 exon9 c.7764+116A>T 0.780751 0.9802 Uncertain 16_2337993_G->A 16 2337993 2337993 G A snp 450.77 0/1 99 33 15 18 0.55 intronic rs313909 ABCA3 AR NM_001089 exon13 c.11352-33G>A 0.474241 0.4742 0.414615 0.4190 0.4464 Uncertain 16_2338363_C->G 16 2338363 2338363 C G snp 1565.77 1/1 99 57 0 57 1.0 intronic rs313908 ABCA3 AR NM_001089 exon13 c.11656+33C>G 0.784145 0.9802 0.692041 0.7961 0.9883 Uncertain 16_2339380_G->A 16 2339380 2339380 G A snp 377.77 0/1 99 28 11 17 0.61 intronic rs572920695 ABCA3 AR NM_001089 exon14 c.12760-54G>A 0.000399361 0.001 0.0002 0.0036 Uncertain 16_2348208_G->C 16 2348208 2348208 G C snp 247.77 0/1 99 14 6 8 0.57 intronic rs323044 ABCA3 AR NM_001089 exon19 c.21712-178G>C 0.624002 0.498 Uncertain 16_2349371_T->C 16 2349371 2349371 T C snp 1178.77 0/1 99 103 56 47 0.46 intronic rs170447 ABCA3 AR NM_001089 exon20 c.22729-32T>C 0.427117 0.5258 0.437587 0.5040 0.5560 Uncertain 16_2367336_G->A 16 2367336 2367336 G A snp 4755.77 1/1 99 180 1 179 0.99 exonic rs13332514 ABCA3 AR synonymous SNV NM_001089 exon10 c.C1059T p.F353F 0.192692 0.372 0.094645 0.1572 0.3787 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000155455.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 16_2367424_G->A 16 2367424 2367424 G A snp 2902.77 1/1 99 92 0 92 1.0 intronic rs13332547 ABCA3 AR NM_001089 exon24 c.40730+20G>A 0.196885 0.372 0.100723 0.1590 0.3784 Uncertain 16_2373786_C->A 16 2373786 2373786 C A snp 725.77 1/1 54 21 0 21 1.0 intronic rs323060 ABCA3 AR NM_001089 exon27 c.47015+97C>A 0.842452 1 Uncertain 16_2375961_C->T 16 2375961 2375961 C T snp 755.77 1/1 57 23 0 23 1.0 intronic rs46725 ABCA3 AR NM_001089 exon29 c.49336-49C>T 0.836661 1 0.833282 0.9539 1 Uncertain 16_2376706_T->C 16 2376706 2376706 T C snp 139.03 1/1 12 4 0 4 1.0 intronic rs323056 ABCA3 AR NM_001089 exon30 c.49819+213T>C 0.90635 0.999 Uncertain 16_2479712_A->C 16 2479712 2479712 A C snp 43.77 0/1 70 5 3 2 0.4 intronic rs13337091 CCNF AU NM_001761 exon1 c.16+214A>C 0.809305 0.873 Uncertain 16_2485896_A->G 16 2485896 2485896 A G snp 1179.77 0/1 99 107 58 49 0.46 intronic rs12928789 CCNF AU NM_001761 exon4 c.6392+22A>G 0.80611 0.874 0.746845 0.7247 0.8737 Uncertain 16_2486998_A->T 16 2486998 2486998 A T snp 735.77 0/1 99 40 18 22 0.55 intronic rs12921396 CCNF AU NM_001761 exon5 c.7647-131A>T 0.80611 0.874 Uncertain 16_2487012_-->T 16 2487012 2487012 - T indel 1202.73 0/1 99 56 25 31 0.55 intronic rs34456414 CCNF AU NM_001761 exon5 c.7647-117insT 0.412939 0.4544 Uncertain 16_2488020_C->T 16 2488020 2488020 C T snp 750.77 0/1 99 69 32 37 0.54 intronic CCNF AU NM_001761 exon6 c.8588-50C>T Uncertain 16_2488211_T->C 16 2488211 2488211 T C snp 1196.77 0/1 99 100 47 53 0.53 intronic rs12926008 CCNF AU NM_001761 exon6 c.8642+87T>C 0.80611 0.874 Uncertain 16_2498828_A->G 16 2498828 2498828 A G snp 1709.77 0/1 99 148 73 75 0.51 intronic rs28417759 CCNF AU NM_001761 exon11 c.19373-27A>G 0.803115 0.873 0.741690 0.7220 0.8722 Uncertain 16_2498849_G->A 16 2498849 2498849 G A snp 2073.77 0/1 99 175 84 91 0.52 intronic rs28670436 CCNF AU NM_001761 exon11 c.19373-6G>A 0.76258 0.873 0.700523 0.7088 0.8729 Uncertain 16_2499011_T->C 16 2499011 2499011 T C snp 1626.77 0/1 99 137 70 67 0.49 intronic rs8060813 CCNF AU NM_001761 exon11 c.19497+32T>C 0.803115 0.873 0.745460 0.7230 0.8729 Uncertain 16_2510603_C->T 16 2510603 2510603 C T snp 378.77 0/1 99 42 24 18 0.43 intronic rs4786284 C16orf59 AU NM_025108 exon3 c.478-20C>T 0.690695 0.7728 0.656740 0.6907 0.7829 Uncertain 16_2511194_G->A 16 2511194 2511194 G A snp 790.77 0/1 99 64 33 31 0.48 exonic rs77567924 C16orf59 AU nonsynonymous SNV NM_025108 exon4 c.G574A p.A192T 0.00119808 0.006 0.0009 0.0116 0.59 T 1 N -1.088 T 0.035 T 0.034 T Pathogenic 16_2512749_C->A 16 2512749 2512749 C A snp 260.77 0/1 99 20 9 11 0.55 intronic rs80077889 C16orf59 AU NM_025108 exon8 c.2588+16C>A 0.0165735 0.0764 0.0040 0.0700 Uncertain 16_2551015_C->T 16 2551015 2551015 C T snp 1951.77 0/1 99 143 71 72 0.5 UTR3 rs76267944 TBC1D24 AR,AD 0.118211 0.2202 Uncertain 16_2607730_C->T 16 2607730 2607730 C T snp 96.77 0/1 45 155 113 42 0.27 exonic rs61747742 PDPK1 AU synonymous SNV NM_001261816 exon2 c.C51T p.S17S 0.3943 0.2109 Uncertain 16_2608001_G->A 16 2608001 2608001 G A snp 1969.77 0/1 99 247 166 81 0.33 intronic rs62040723 PDPK1 AU NM_002613 exon2 c.19851+37G>A 0.1858 0.0323 Uncertain 16_2748972_G->A 16 2748972 2748972 G A snp 274.77 0/1 99 20 11 9 0.45 intronic rs148004840 KCTD5 AU NM_018992 exon4 c.17272-849G>A 0.00519169 0.0238 Uncertain 16_2802684_T->C 16 2802684 2802684 T C snp 590.77 1/1 45 22 0 22 1.0 UTR5 rs2240146 SRRM2 AU 0.889976 0.7044 0.8394 0.75 Uncertain 16_2808363_C->T 16 2808363 2808363 C T snp 224.84 1/1 18 9 0 9 1.0 intronic rs3094778 SRRM2 AU NM_016333 exon5 c.2105-107C>T 0.58127 0.4058 Uncertain 16_2810623_T->G 16 2810623 2810623 T G snp 81.77 0/1 30 4 1 3 0.75 intronic rs2285879 SRRM2 AU NM_016333 exon10 c.4135+123T>G 0.420927 0.3373 Uncertain 16_2812890_A->G 16 2812890 2812890 A G snp 4426.77 1/1 99 158 0 158 1.0 exonic rs2240141 SRRM2 AU synonymous SNV NM_016333 exon11 c.A2361G p.K787K 0.674321 0.4464 0.780856 0.7680 0.4338 Uncertain 16_2812939_C->A 16 2812939 2812939 C A snp 4773.77 1/1 99 172 1 171 0.99 exonic rs2240140 SRRM2 AU nonsynonymous SNV NM_016333 exon11 c.C2410A p.P804T 0.414337 0.372 0.448523 0.5481 0.3760 0.69 T 0.0 P -0.957 T 0.0 T 0.001 T Pathogenic 16_2814162_G->A 16 2814162 2814162 G A snp 1240.77 0/1 99 96 43 53 0.55 exonic rs3094775 SRRM2 AU synonymous SNV NM_016333 exon11 c.G3633A p.R1211R 0.654553 0.4226 0.743844 0.7370 0.3994 Uncertain 16_2815237_A->C 16 2815237 2815237 A C snp 5334.77 1/1 99 182 0 182 1.0 exonic rs3094773 SRRM2 AU synonymous SNV NM_016333 exon11 c.A4708C p.R1570R 0.895168 0.7054 0.989458 0.9429 0.7120 Uncertain 16_2818097_C->G 16 2818097 2818097 C G snp 2457.77 0/1 99 174 81 93 0.53 exonic rs117824484 SRRM2 AU nonsynonymous SNV NM_016333 exon11 c.C7568G p.A2523G 0.00459265 0.0198 0.000077 0.0025 0.0325 0.15 T 1.000 N -0.958 T 0.915 T 0.438 D Pathogenic 16_2818161_T->C 16 2818161 2818161 T C snp 1391.77 0/1 99 132 76 56 0.42 exonic rs2301802 SRRM2 AU synonymous SNV NM_016333 exon11 c.T7632C p.S2544S 0.671725 0.4335 0.778086 0.7666 0.4056 Uncertain 16_2818704_T->G 16 2818704 2818704 T G snp 1369.77 0/1 99 171 110 61 0.36 intronic rs3094792 SRRM2 AU NM_016333 exon12 c.12632-293T>G 0.672324 0.4355 0.7492 0.4216 1 T 1.000 P -0.969 T Uncertain 16_2820882_G->T 16 2820882 2820882 G T snp 859.77 0/1 99 63 28 35 0.56 UTR3 rs1050134 SRRM2 AU 0.183506 0.2202 0.183518 0.1634 0.2544 Uncertain 16_2821573_C->T 16 2821573 2821573 C T snp 1414.77 0/1 99 107 58 49 0.46 exonic rs8017 TCEB2 AU nonsynonymous SNV NM_207013 exon5 c.G386A p.S129N 0.413738 0.3591 0.449523 0.4820 0.3340 0.25 T 0.000 P -0.933 T 0.118 T 0.023 T Pathogenic 16_2821989_C->- 16 2821989 2821989 C - indel 931.73 1/1 69 23 0 23 1.0 splicing rs3214191 TCEB2 AU NM_207013 exon2 c.522-5delC 0.609824 0.6746 0.5079 Pathogenic 16_2822174_G->A 16 2822174 2822174 G A snp 6103.77 1/1 99 243 0 243 1.0 intronic rs2285877 TCEB2 AU NM_207013 exon2 c.631+71G>A 0.290136 0.5198 Uncertain 16_2825594_A->G 16 2825594 2825594 A G snp 1084.77 0/1 99 101 47 54 0.53 intronic rs3094774 TCEB2 AU NM_207013 exon3 c.4085+37A>G 0.708466 0.4246 0.824023 0.7928 0.4340 Uncertain 16_2837592_T->G 16 2837592 2837592 T G snp 201.77 0/1 99 41 28 13 0.32 upstream rs8044740 PRSS33 AU 0.521965 0.375 Uncertain 16_2837603_C->T 16 2837603 2837603 C T snp 195.77 0/1 99 38 27 11 0.29 upstream rs11076829 PRSS33 AU 0.493211 0.3591 Uncertain 16_2868641_A->G 16 2868641 2868641 A G snp 324.77 0/1 99 31 18 13 0.42 intronic rs2074907 PRSS21 AU NM_006799 exon4 c.1408-36A>G 0.315495 0.2698 0.295245 0.3015 0.2622 Uncertain 16_2871121_T->C 16 2871121 2871121 T C snp 1213.77 0/1 99 82 34 48 0.59 intronic rs11076844 PRSS21 AU NM_006799 exon5 c.3841+11T>C 0.726637 0.7272 0.729994 0.7078 0.7412 Uncertain 16_2871555_G->A 16 2871555 2871555 G A snp 2588.77 0/1 99 191 84 107 0.56 exonic rs10641 PRSS21 AU synonymous SNV NM_006799 exon6 c.G894A p.P298P 0.667931 0.6706 0.698061 0.6767 0.6803 Uncertain 16_2880614_T->C 16 2880614 2880614 T C snp 691.77 0/1 99 51 20 31 0.61 intronic rs2190809 ZG16B AU NM_145252 exon3 c.446-80T>C 0.757188 0.7262 Uncertain 16_2880870_G->C 16 2880870 2880870 G C snp 303.77 0/1 99 18 7 11 0.61 intronic rs2240614 ZG16B AU NM_145252 exon3 c.549+73G>C 0.641374 0.7282 Uncertain 16_2882197_G->T 16 2882197 2882197 G T snp 153.77 0/1 99 9 4 5 0.56 UTR3 rs12373 ZG16B AU 0.607628 0.6687 0.643996 0.6628 0.6884 Uncertain 16_2891212_G->A 16 2891212 2891212 G A snp 973.77 0/1 99 98 53 45 0.46 ncRNA_exonic rs17854132 PRSS30P AU 0.197284 0.2014 0.1971 0.1980 Uncertain 16_2892695_A->G 16 2892695 2892695 A G snp 90.28 1/1 9 3 0 3 1.0 ncRNA_exonic rs8064026 PRSS30P AU 0.980431 1 Uncertain 16_2903047_G->C 16 2903047 2903047 G C snp 1509.77 1/1 99 42 0 42 1.0 UTR3 rs1054912 PRSS22 AU 0.757788 0.6379 0.870774 0.7880 0.6284 Uncertain 16_2949248_T->C 16 2949248 2949248 T C snp 916.77 1/1 69 26 0 26 1.0 UTR3 rs7281 FLYWCH2 AU 0.4375 0.2292 Uncertain 16_2972656_G->A 16 2972656 2972656 G A snp 787.77 0/1 99 74 42 32 0.43 intronic rs17134868 FLYWCH1 AU 0.0221645 0.0645 Uncertain 16_2972698_C->G 16 2972698 2972698 C G snp 1054.77 0/1 99 91 47 44 0.48 intronic rs35374464 FLYWCH1 AU 0.165935 0.1647 Uncertain 16_2973088_G->T 16 2973088 2973088 G T snp 694.77 0/1 99 78 45 33 0.42 intronic rs36122103 FLYWCH1 AU 0.171925 0.1369 Uncertain 16_2973249_T->A 16 2973249 2973249 T A snp 132.77 0/1 99 12 6 6 0.5 intronic rs11642228 FLYWCH1 AU 0.66873 0.6141 Uncertain 16_2980272_A->G 16 2980272 2980272 A G snp 684.77 0/1 99 44 16 28 0.64 intronic rs3743949 FLYWCH1 AU NM_032296 exon4 c.727-141A>G 0.322085 0.4177 Uncertain 16_2983483_C->G 16 2983483 2983483 C G snp 1454.77 0/1 99 107 51 56 0.52 exonic rs2074362 FLYWCH1 AU synonymous SNV NM_020912 exon5 c.C1146G p.L382L 0.339257 0.4157 0.219305 0.2638 0.4839 Uncertain 16_2984496_C->T 16 2984496 2984496 C T snp 182.77 0/1 99 14 8 6 0.43 intronic rs2074360 FLYWCH1 AU NM_032296 exon6 c.4294+516C>T 0.291334 0.4008 Uncertain 16_2984868_T->C 16 2984868 2984868 T C snp 80.77 0/1 69 5 2 3 0.6 intronic rs2074359 FLYWCH1 AU NM_032296 exon6 c.4294+888T>C 0.36861 0.4107 Uncertain 16_2986233_G->T 16 2986233 2986233 G T snp 98.77 0/1 99 14 10 4 0.29 intronic rs9933986 FLYWCH1 AU NM_032296 exon7 c.7435-888G>T 0.409345 0.4077 Uncertain 16_2986266_C->A 16 2986266 2986266 C A snp 210.77 0/1 99 23 16 7 0.3 intronic rs9921749 FLYWCH1 AU NM_032296 exon7 c.7435-855C>A 0.297324 0.4067 Uncertain 16_2986289_C->G 16 2986289 2986289 C G snp 398.77 0/1 99 39 24 15 0.38 intronic rs9921808 FLYWCH1 AU NM_032296 exon7 c.7435-832C>G 0.418331 0.4077 0.3589 0.4643 Uncertain 16_2986323_T->C 16 2986323 2986323 T C snp 639.77 0/1 99 68 39 29 0.43 intronic rs9928222 FLYWCH1 AU NM_032296 exon7 c.7435-798T>C 0.576478 0.5179 0.5917 0.5941 Uncertain 16_2986840_G->C 16 2986840 2986840 G C snp 2730.77 0/1 99 218 103 115 0.53 intronic rs2074358 FLYWCH1 AU NM_032296 exon7 c.7435-281G>C 0.317692 0.4097 0.3214 0.4787 0.51 T 0.0 P -0.922 T Uncertain 16_2987002_C->T 16 2987002 2987002 C T snp 996.77 0/1 99 71 32 39 0.55 intronic rs2074357 FLYWCH1 AU NM_032296 exon7 c.7435-119C>T 0.590655 0.5109 Uncertain 16_2998629_T->G 16 2998629 2998629 T G snp 1401.77 0/1 99 115 56 59 0.51 intronic rs8050688 FLYWCH1 AU NM_032296 exon10 c.19002-59T>G 0.36861 0.3988 0.260622 Uncertain 16_3016076_G->C 16 3016076 3016076 G C snp 300.77 0/1 99 31 16 15 0.48 intronic rs4786362 KREMEN2 AU NM_024507 exon3 c.1619-64G>C 0.0253594 0.0942 Uncertain 16_3016885_A->G 16 3016885 3016885 A G snp 4110.77 1/1 99 135 0 135 1.0 intronic rs58462745 KREMEN2 AU NM_024507 exon6 c.2389-25A>G 0.998602 1 0.998766 0.9991 1 Uncertain 16_3021116_T->C 16 3021116 3021116 T C snp 873.77 0/1 99 108 68 40 0.37 intronic rs4786365 PAQR4 AU NM_152341 exon2 c.1482-41T>C 0.667931 0.624 0.740108 0.6896 0.5936 Uncertain 16_3024188_T->C 16 3024188 3024188 T C snp 778.77 0/1 99 59 26 33 0.56 intronic rs2074528 PKMYT1 AU NM_004203 exon3 c.1205+30T>C 0.678315 0.628 0.757308 0.7072 0.6142 Uncertain 16_3063264_C->T 16 3063264 3063264 C T snp 1774.77 1/1 99 68 0 68 1.0 UTR5 rs2227269 CLDN9 AU 0.209465 0.4097 Uncertain 16_3065924_G->A 16 3065924 3065924 G A snp 1207.77 0/1 99 127 72 55 0.43 exonic rs2269911 CLDN6 AU synonymous SNV NM_021195 exon2 c.C99T p.T33T 0.230431 0.4028 0.172822 0.2188 0.3780 Uncertain 16_3071420_T->A 16 3071420 3071420 T A snp 622.77 0/1 99 50 25 25 0.5 intronic rs2232798 TNFRSF12A AU NM_016639 exon2 c.922+100T>A 0.495008 0.3046 Uncertain 16_3075633_G->C 16 3075633 3075633 G C snp 527.77 0/1 99 40 23 17 0.42 intronic rs2526260 THOC6 AR NM_024339 exon2 c.1381-75G>C 0.243011 0.1825 Uncertain 16_3075701_C->T 16 3075701 3075701 C T snp 1692.77 0/1 99 157 85 72 0.46 intronic rs2717664 THOC6 AR NM_024339 exon2 c.1381-7C>T 0.242612 0.1825 0.318790 0.2930 0.1840 Uncertain 16_3075999_C->G 16 3075999 3075999 C G snp 2998.77 0/1 99 250 124 126 0.5 intronic rs2245000 THOC6 AR NM_024339 exon3 c.1662+10C>G 0.55611 0.3046 0.638889 0.5845 0.3013 Uncertain 16_3077711_TT->- 16 3077711 3077712 TT - indel 187.73 0/1 45 21 3 18 0.86 UTR3 rs761811438 THOC6 AR 0.3276 0.2375 Uncertain 16_3078544_T->G 16 3078544 3078544 T G snp 224.77 0/1 99 20 10 10 0.5 intronic rs2079244 CCDC64B AU NM_001103175 exon2 c.363+75T>G 0.524561 0.3065 Uncertain 16_3078617_ATT->- 16 3078617 3078619 ATT - indel 2042.73 0/1 99 84 44 40 0.48 intronic rs370247621 CCDC64B AU NM_001103175 exon3 c.594-83_594-81delATT 0.507388 0.3036 Uncertain 16_3078944_C->T 16 3078944 3078944 C T snp 44.77 0/1 33 3 1 2 0.67 intronic rs143969469 CCDC64B AU NM_001103175 exon3 c.725+113C>T 0.00459265 0.0208 Uncertain 16_3079685_T->C 16 3079685 3079685 T C snp 486.77 0/1 99 62 40 22 0.35 exonic rs2244494 CCDC64B AU nonsynonymous SNV NM_001103175 exon5 c.A818G p.Q273R 0.245407 0.1786 0.236224 0.3613 0.3252 0.11 T 1.000 P -1.022 T 0.989 D 0.979 D Pathogenic 16_3085335_G->C 16 3085335 3085335 G C snp 2126.77 0/1 99 178 77 101 0.57 exonic;splicing rs7204908 CCDC64B;LOC100128770 UN nonsynonymous SNV NM_001103175 exon1 c.C163G p.Q55E 0.273562 0.1905 0.336615 0.4595 0.3635 0.92 T 0.668 P -0.962 T 0.22 T 0.143 T Pathogenic 16_3085375_G->A 16 3085375 3085375 G A snp 1773.77 0/1 99 162 72 90 0.56 exonic rs11077096 CCDC64B AU synonymous SNV NM_001103175 exon1 c.C123T p.G41G 0.294329 0.1905 0.352019 0.4156 0.2728 Uncertain 16_3085924_G->A 16 3085924 3085924 G A snp 54.74 1/1 6 2 0 2 1.0 ncRNA_exonic rs6416816 LOC100128770 AU 0.974441 1 Uncertain 16_3086447_C->G 16 3086447 3086447 C G snp 1699.77 0/1 99 136 69 67 0.49 ncRNA_exonic rs7206805 LOC100128770 AU 0.309904 0.1895 0.3495 0.2079 0 D 0.0 P -0.958 T Uncertain 16_3097295_C->T 16 3097295 3097295 C T snp 449.77 0/1 99 34 18 16 0.47 intronic rs879734 MMP25 AU NM_022468 exon2 c.497-120C>T 0.272364 0.1905 Uncertain 16_3097596_T->A 16 3097596 3097596 T A snp 35.77 0/1 64 13 8 5 0.38 intronic rs3743936 MMP25 AU NM_022468 exon2 c.630+48T>A 0.565296 0.3274 0.651648 0.5893 0.3196 Uncertain 16_3100095_C->T 16 3100095 3100095 C T snp 1821.77 0/1 99 163 90 73 0.45 exonic rs10431961 MMP25 AU synonymous SNV NM_022468 exon3 c.C318T p.R106R 0.252196 0.1905 0.292764 0.3108 0.2009 Uncertain 16_3106026_G->A 16 3106026 3106026 G A snp 86.77 0/1 30 5 1 4 0.8 ncRNA_intronic rs3888711 MMP25-AS1 AU 0.445088 0.7163 Uncertain 16_3106994_A->T 16 3106994 3106994 A T snp 1019.77 1/1 75 26 0 26 1.0 ncRNA_intronic rs1064948 MMP25-AS1 AU 0.799121 0.9028 0.722924 0.6944 0.9098 Uncertain 16_3108381_C->T 16 3108381 3108381 C T snp 916.77 0/1 99 82 45 37 0.45 ncRNA_intronic rs147950362 MMP25-AS1 AU 0.00439297 0.0198 0.0034 0.0368 Uncertain 16_3115628_A->C 16 3115628 3115628 A C snp 544.77 1/1 42 15 0 15 1.0 UTR5 rs1554999 IL32 AU 0.805711 0.9395 Uncertain 16_3117272_-->GTGTGTG 16 3117272 3117272 - GTGTGTG indel 959.73 1/1 42 14 0 14 1.0 intronic IL32 AU NM_001012631 exon4 c.1565-105insGTGTGTG Uncertain 16_3117354_T->A 16 3117354 3117354 T A snp 565.77 0/1 99 54 29 25 0.46 intronic rs1555001 IL32 AU NM_001012631 exon4 c.1565-23T>A 0.353035 0.376 0.270971 0.3620 0.3968 Uncertain 16_3117675_G->C 16 3117675 3117675 G C snp 572.77 0/1 99 39 17 22 0.56 intronic rs117585555 IL32 AU NM_001012631 exon5 c.1802+61G>C 0.00259585 0.0129 0.0010 0.0121 Uncertain 16_3132108_A->G 16 3132108 3132108 A G snp 65.77 0/1 94 8 4 4 0.5 intergenic rs112528429 IL32 AU 0.0299521 0.1071 Uncertain 16_3139743_C->T 16 3139743 3139743 C T snp 2076.77 0/1 99 190 99 91 0.48 exonic rs199615126 ZSCAN10 AU synonymous SNV NM_001282415 exon5 c.G510A p.Q170Q 2.298e-05 0.0003 Uncertain 16_3141690_G->T 16 3141690 3141690 G T snp 993.77 0/1 99 99 59 40 0.4 intronic rs75016283 ZSCAN10 AU NM_001282415 exon3 c.2673-74G>T 0.0325479 0.1002 Uncertain 16_3166587_A->G 16 3166587 3166587 A G snp 552.77 1/1 42 17 0 17 1.0 intronic rs224178 ZNF205 AU NM_003456 exon5 c.3117+39A>G 0.404153 0.4742 0.360628 0.4292 0.5240 Uncertain 16_3168836_T->G 16 3168836 3168836 T G snp 2917.77 1/1 99 111 0 111 1.0 intronic rs224181 ZNF205 AU NM_003456 exon6 c.5474-69T>G 0.40016 0.4722 Uncertain 16_3170188_C->T 16 3170188 3170188 C T snp 6019.77 1/1 99 209 0 209 1.0 exonic rs12032 ZNF205 AU synonymous SNV NM_001042428 exon7 c.C1527T p.C509C 0.384185 0.4365 0.355042 0.4133 0.4740 Uncertain 16_3265990_G->A 16 3265990 3265990 G A snp 2176.77 0/1 99 172 92 80 0.47 ncRNA_exonic rs61741634 OR1F2P AU 0.00599042 0.0268 0.0032 0.0312 Uncertain 16_3274400_G->A 16 3274400 3274400 G A snp 1621.77 0/1 99 161 94 67 0.42 exonic ZNF200 AU nonsynonymous SNV NM_001145446 exon5 c.C677T p.P226L 0.24 T 0.949 D -0.987 T 0.904 T 0.372 P Pathogenic 16_3282605_T->C 16 3282605 3282605 T C snp 1753.77 0/1 99 138 69 69 0.5 intronic rs2075852 ZNF200 AU NM_001145448 exon2 c.8656+58T>C 0.433506 0.5655 Uncertain 16_3293888_C->T 16 3293888 3293888 C T snp 1394.77 0/1 99 133 74 59 0.44 exonic rs1231122 MEFV AR,AD synonymous SNV NM_000243 exon9 c.G1764A p.P588P 0.353634 0.3958 0.423580 0.3967 0.3838 0.26 T 0.0 P -0.947 T CLINSIG=non-pathogenic,non-pathogenic;CLNDBN=not_provided,Familial_Mediterranean_fever;CLNREVSTAT=criteria_provided\x2c_single_submitter,criteria_provided\x2c_multiple_submitters\x2c_no_conflicts;CLNACC=RCV000126738.1,RCV000030177.2;CLNDSDB=MedGen,GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT;CLNDSDBID=CN221809,NBK1227:C0031069:249100:ORPHA342:12579009 Likely benign 16_3293922_A->T 16 3293922 3293922 A T snp 1839.77 0/1 99 180 99 81 0.45 intronic rs1231123 MEFV AR,AD NM_000243 exon2 c.752+30A>T 0.311302 0.2808 0.405649 0.3949 0.2943 0.0 P -0.944 T Uncertain 16_3294155_T->- 16 3294155 3294155 T - indel 659.73 0/1 99 60 24 36 0.6 intronic rs3974658 MEFV AR,AD NM_001198536 exon2 c.377+88delT 0.5595 0.6218 Uncertain 16_3294678_G->A 16 3294678 3294678 G A snp 65.77 0/1 94 12 9 3 0.25 intronic rs1231124 MEFV AR,AD NM_001198536 exon4 c.898+90G>A 0.353235 0.3958 Uncertain 16_3296429_G->A 16 3296429 3296429 G A snp 651.77 0/1 99 37 13 24 0.65 intronic rs224204 MEFV AR,AD NM_001198536 exon5 c.2834-95G>A 0.454073 0.5685 Uncertain 16_3296616_C->T 16 3296616 3296616 C T snp 1299.77 0/1 99 106 51 55 0.52 intronic rs224205 MEFV AR,AD NM_001198536 exon5 c.2857+69C>T 0.454073 0.5714 0.439991 Uncertain 16_3297073_A->G 16 3297073 3297073 A G snp 2740.77 0/1 99 250 134 116 0.46 exonic rs224206 MEFV AR,AD synonymous SNV NM_000243 exon5 c.T1530C p.D510D 0.663139 0.6518 0.584193 0.6104 0.6519 CLINSIG=non-pathogenic;CLNDBN=Familial_Mediterranean_fever;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000030175.1;CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT;CLNDSDBID=NBK1227:C0031069:249100:ORPHA342:12579009 Uncertain 16_3297175_T->C 16 3297175 3297175 T C snp 2662.77 0/1 99 249 139 110 0.44 exonic rs224207 MEFV AR,AD synonymous SNV NM_000243 exon5 c.A1428G p.Q476Q 0.650559 0.6528 0.568570 0.6057 0.6527 Uncertain 16_3297181_C->T 16 3297181 3297181 C T snp 2657.77 0/1 99 249 138 111 0.45 exonic rs224208 MEFV AR,AD synonymous SNV NM_000243 exon5 c.G1422A p.E474E 0.638978 0.6062 0.566569 0.6027 0.6185 CLINSIG=non-pathogenic;CLNDBN=Familial_Mediterranean_fever;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000030172.1;CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT;CLNDSDBID=NBK1227:C0031069:249100:ORPHA342:12579009 Uncertain 16_3298642_G->A 16 3298642 3298642 G A snp 833.77 0/1 99 65 32 33 0.51 intronic rs224211 MEFV AR,AD NM_001198536 exon7 c.5218-266G>A 0.661142 0.6071 Uncertain 16_3298865_T->C 16 3298865 3298865 T C snp 1045.77 0/1 99 63 22 41 0.65 intronic rs224212 MEFV AR,AD NM_001198536 exon7 c.5218-43T>C 0.661142 0.6071 0.583808 0.6087 0.6200 Uncertain 16_3299749_G->A 16 3299749 3299749 G A snp 2877.77 0/1 99 233 105 128 0.55 exonic rs224213 MEFV AR,AD synonymous SNV NM_000243 exon3 c.C942T p.R314R 0.690695 0.7083 0.595660 0.6283 0.7168 CLINSIG=non-pathogenic;CLNDBN=Familial_Mediterranean_fever;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000030188.1;CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT;CLNDSDBID=NBK1227:C0031069:249100:ORPHA342:12579009 Uncertain 16_3304626_C->G 16 3304626 3304626 C G snp 973.77 0/1 99 88 49 39 0.44 exonic rs3743930 MEFV AR,AD nonsynonymous SNV NM_000243 exon2 c.G442C p.E148Q 0.126398 0.2887 0.011203 0.0900 0.3150 0.01 T 0.087 P -1.103 T 0.995 D 0.851 D CLINSIG=pathogenic;CLNDBN=Familial_mediterranean_fever\x2c_autosomal_dominant;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000002664.1;CLNDSDB=MedGen:OMIM:Orphanet;CLNDSDBID=C1851347:134610:ORPHA342 ID=CM981240;DIS=Mediterranean fever, familial, association with;TAG=DP;PUB=9668175 DP Pathogenic 16_3304739_A->G 16 3304739 3304739 A G snp 1928.77 0/1 99 173 89 84 0.49 exonic rs11466018 MEFV AR,AD nonsynonymous SNV NM_000243 exon2 c.T329C p.L110P 0.0117812 0.0585 0.0064 0.0847 0.04 T 1 N -1.048 T 0.652 T 0.099 P ID=CM001236;DIS=Mediterranean fever, familial;TAG=DM?;PUB=10854105 DM? Pathogenic 16_3362953_T->G 16 3362953 3362953 T G snp 763.77 1/1 57 20 0 20 1.0 intronic rs37840 ZNF75A AU NM_001302109 exon5 c.4620-95T>G 0.975839 1 Uncertain 16_3405875_T->C 16 3405875 3405875 T C snp 119.77 0/1 99 8 4 4 0.5 upstream rs1009429 OR2C1 AU 0.921126 0.9147 Uncertain 16_3405994_A->G 16 3405994 3405994 A G snp 1039.77 0/1 99 77 34 43 0.56 exonic rs1228348 OR2C1 AU synonymous SNV NM_012368 exon1 c.A54G p.S18S 0.869808 0.9147 0.840773 0.8712 0.8986 Uncertain 16_3406112_C->T 16 3406112 3406112 C T snp 2233.77 0/1 99 198 101 97 0.49 exonic rs75856110 OR2C1 AU nonsynonymous SNV NM_012368 exon1 c.C172T p.P58S 0.0319489 0.0546 0.002001 0.0328 0.0648 0 D 0.994 P -1.103 T 0.722 T 0.253 P ID=CM141884;DIS=Altered receptor function;TAG=FP;PUB=24316890 FP Pathogenic 16_3406387_C->G 16 3406387 3406387 C G snp 7718.77 1/1 99 250 0 250 1.0 exonic rs1218763 OR2C1 AU nonsynonymous SNV NM_012368 exon1 c.C447G p.C149W 0.998003 1 0.997999 0.9993 1 1 T 0.994 P -0.991 T 0.0 T 0.0 T ID=CM141881;DIS=Altered receptor function;TAG=FP;PUB=24316890 FP Pathogenic 16_3434027_G->C 16 3434027 3434027 G C snp 908.77 0/1 99 74 39 35 0.47 intronic rs17136367 ZSCAN32 AU NM_017810 exon1 c.860+316G>C 0.148163 0.1935 Uncertain 16_3438865_G->A 16 3438865 3438865 G A snp 1016.77 0/1 99 84 39 45 0.54 intronic rs11643983 ZSCAN32 AU NM_017810 exon3 c.7158-1144G>A 0.456669 0.622 Uncertain 16_3440390_C->T 16 3440390 3440390 C T snp 1057.77 0/1 99 87 39 48 0.55 intronic rs4786412 ZSCAN32 AU NM_017810 exon4 c.7571-32C>T 0.457468 0.622 0.5108 0.6037 Uncertain 16_3440394_A->G 16 3440394 3440394 A G snp 1078.77 0/1 99 88 40 48 0.55 intronic rs27237 ZSCAN32 AU NM_017810 exon4 c.7571-28A>G 0.921126 0.9196 0.8916 0.8963 Uncertain 16_3441697_A->C 16 3441697 3441697 A C snp 733.77 0/1 99 70 40 30 0.43 intronic rs7204842 ZSCAN32 AU NM_017810 exon4 c.7666+1180A>C Uncertain 16_3447664_TCTG->- 16 3447664 3447667 TCTG - indel 1215.73 0/1 99 47 22 25 0.53 UTR5 ZSCAN32 AU Uncertain 16_3452193_T->G 16 3452193 3452193 T G snp 2011.77 0/1 99 150 74 76 0.51 exonic rs37811 ZNF174 AU synonymous SNV NM_001032292 exon1 c.T189G p.A63A 0.921925 0.9206 0.894490 0.8870 0.9015 Uncertain 16_3452469_C->T 16 3452469 3452469 C T snp 198.77 0/1 99 27 17 10 0.37 intronic rs368416320 ZNF174 AU NM_003450 exon1 c.402+63C>T Uncertain 16_3455079_T->C 16 3455079 3455079 T C snp 661.77 0/1 99 41 17 24 0.59 intronic rs37813 ZNF174 AU NM_001032292 exon3 c.3039+36T>C 0.836661 0.8046 Uncertain 16_3490922_G->C 16 3490922 3490922 G C snp 416.77 0/1 99 55 33 22 0.4 exonic rs2270494 ZNF597 AU synonymous SNV NM_152457 exon3 c.C45G p.L15L 0.465256 0.6369 0.429044 0.5326 0.6506 Uncertain 16_3533577_C->G 16 3533577 3533577 C G snp 4037.77 1/1 99 131 0 131 1.0 exonic rs1137454 NAA60 AU synonymous SNV NM_001083600 exon5 c.C552G p.G184G 0.715455 0.7411 0.706735 0.6935 0.7562 Uncertain 16_3534892_G->A 16 3534892 3534892 G A snp 6928.77 1/1 99 250 0 250 1.0 UTR3 rs13740 NAA60 AU 0.563498 0.5982 0.651502 0.6514 0.6521 0.86 T 0.0 P -0.962 T Uncertain 16_3535116_T->C 16 3535116 3535116 T C snp 5664.77 1/1 99 197 0 197 1.0 intronic rs4785936 NAA60 AU NM_024845 exon6 c.8856+33T>C 0.936502 0.9603 0.9078 0.9356 Uncertain 16_3535540_G->A 16 3535540 3535540 G A snp 4550.77 1/1 99 157 0 157 1.0 UTR3 rs2240075 NAA60 AU 0.563299 0.5982 0.6381 0.6355 Uncertain 16_3544040_G->T 16 3544040 3544040 G T snp 791.77 0/1 99 47 20 27 0.57 intronic rs56793723 C16orf90 AU NM_001080524 exon1 c.149+53G>T 0.444489 0.3998 Uncertain 16_3544065_G->C 16 3544065 3544065 G C snp 318.77 0/1 99 32 17 15 0.47 intronic rs117193564 C16orf90 AU NM_001080524 exon1 c.149+78G>C 0.0103834 0.0427 Uncertain 16_3554545_T->A 16 3554545 3554545 T A snp 32.77 0/1 61 7 5 2 0.29 intronic rs72778130 CLUAP1 AU NM_015041 exon2 c.3652-174T>A 0.189297 0.2579 Uncertain 16_3583173_C->T 16 3583173 3583173 C T snp 1894.77 0/1 99 137 62 75 0.55 intronic rs3751837 CLUAP1 AU NM_015041 exon11 c.31774+332C>T 0.222843 0.248 0.2336 0.2857 Uncertain 16_3599655_G->A 16 3599655 3599655 G A snp 1144.77 0/1 99 96 46 50 0.52 intronic rs12448257 NLRC3 AU NM_178844 exon9 c.7872-41G>A 0.215855 0.2579 0.185152 0.2228 0.2476 Uncertain 16_3602228_G->- 16 3602228 3602228 G - indel 3868.73 1/1 99 98 0 98 1.0 splicing rs398078461 NLRC3 AU NM_178844 exon12 c.10404delG 1 1 0.999829 1 1 Pathogenic 16_3611610_C->T 16 3611610 3611610 C T snp 1573.77 1/1 99 49 0 49 1.0 intronic rs8050566 NLRC3 AU NM_178844 exon16 c.19878-92C>T 0.553714 0.5784 Uncertain 16_3613126_C->T 16 3613126 3613126 C T snp 979.77 0/1 99 77 35 42 0.55 exonic rs12445430 NLRC3 AU synonymous SNV NM_178844 exon5 c.G1812A p.L604L 0.223243 0.2708 0.205639 0.3583 0.4482 Uncertain 16_3613150_A->G 16 3613150 3613150 A G snp 2314.77 1/1 99 79 0 79 1.0 exonic rs8044743 NLRC3 AU synonymous SNV NM_178844 exon5 c.T1788C p.T596T 0.756989 0.7986 0.631890 0.6909 0.8447 Uncertain 16_3627358_C->T 16 3627358 3627358 C T snp 236.77 0/1 99 16 7 9 0.56 UTR5 rs758747 NLRC3 AU 0.402356 0.3075 Uncertain 16_3638809_G->A 16 3638809 3638809 G A snp 80.77 0/1 99 6 3 3 0.5 intronic rs8058233 SLX4 AR NM_032444 exon4 c.6660-193G>A 0.478634 0.369 Uncertain 16_3639139_A->G 16 3639139 3639139 A G snp 1320.77 0/1 99 126 73 53 0.42 exonic rs3810812 SLX4 AR synonymous SNV NM_032444 exon12 c.T4500C p.N1500N 0.739617 0.7103 0.626597 0.6116 0.7233 Uncertain 16_3656482_C->T 16 3656482 3656482 C T snp 1413.77 0/1 99 130 75 55 0.42 exonic rs8061528 SLX4 AR synonymous SNV NM_032444 exon3 c.G753A p.A251A 0.230831 0.2808 0.218947 0.2138 0.3079 Uncertain 16_3706337_C->T 16 3706337 3706337 C T snp 143.77 0/1 99 12 7 5 0.42 intronic rs758745 DNASE1 AD NM_005223 exon4 c.812+151C>T 0.123602 0.1627 Uncertain 16_3707409_G->C 16 3707409 3707409 G C snp 997.77 0/1 99 47 14 33 0.7 intronic rs1799892 DNASE1 AD NM_005223 exon7 c.1968+67G>C 0.534944 0.4524 Uncertain 16_3707747_G->A 16 3707747 3707747 G A snp 1496.77 0/1 99 150 83 67 0.45 exonic rs1053874 DNASE1 AD nonsynonymous SNV NM_005223 exon8 c.G731A p.R244Q 0.494209 0.4286 0.450746 0.3712 0.4706 0.8 T 0.907 P -0.990 T 0.006 T 0.001 T CLINSIG=other;CLNDBN=Systemic_lupus_erythematosus\x2c_susceptibility_to;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000018346.1;CLNDSDB=.;CLNDSDBID=. ID=CM042698;DIS=Systemic lupus erythematosus, association with;TAG=DFP;PUB=15333586 DFP Pathogenic 16_3708283_T->- 16 3708283 3708283 T - indel 468.73 0/1 99 66 15 51 0.77 intronic rs35081909 TRAP1 AU NM_001272049 exon1 c.102+52delT 0.429313 0.5625 0.363105 0.4168 0.5023 Uncertain 16_3724465_G->C 16 3724465 3724465 G C snp 1183.77 0/1 99 109 58 51 0.47 exonic rs13926 TRAP1 AU nonsynonymous SNV NM_016292 exon9 c.C919G p.R307G 0.392772 0.5605 0.331692 0.4372 0.5347 0.27 T 0.0 P -0.927 T 0.0 T 0.0 T Pathogenic 16_3726160_A->G 16 3726160 3726160 A G snp 2821.77 1/1 99 103 0 103 1.0 intronic rs8050400 TRAP1 AU NM_001272049 exon12 c.18017+14A>G 0.967053 1 0.924196 0.9303 1 Uncertain 16_3736147_T->C 16 3736147 3736147 T C snp 1602.77 0/1 99 135 66 69 0.51 intronic rs78556812 TRAP1 AU NM_001272049 exon15 c.28008+10T>C 0.0215655 0.0962 0.000308 0.0080 0.0841 Uncertain 16_3738887_C->T 16 3738887 3738887 C T snp 991.77 1/1 72 30 0 30 1.0 intronic rs2072379 TRAP1 AU NM_001272049 exon16 c.30926-168C>T 0.797923 0.8383 Uncertain 16_3781999_C->A 16 3781999 3781999 C A snp 308.77 0/1 99 32 20 12 0.38 intronic CREBBP AD NM_001079846 exon3 c.4220+61C>A Uncertain 16_3789537_G->A 16 3789537 3789537 G A snp 524.77 0/1 99 36 17 19 0.53 intronic rs129967 CREBBP AD NM_001079846 exon7 c.11860-41G>A 0.204673 0.1925 0.154841 0.0836 0.2139 ID=COSN165094;OCCURENCE=1(NS) Uncertain 16_3790307_T->C 16 3790307 3790307 T C snp 200.77 0/1 60 8 2 6 0.75 intronic rs130016 CREBBP AD NM_001079846 exon8 c.12681-92T>C 0.0882588 0.1855 Uncertain 16_3795292_G->T 16 3795292 3795292 G T snp 596.77 0/1 99 72 46 26 0.36 exonic rs129974 CREBBP AD synonymous SNV NM_004380 exon22 c.C3900A p.I1300I 0.0776757 0.1786 0.014468 0.0376 0.1932 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000145742.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 ID=COSM148008;OCCURENCE=1(stomach) Uncertain 16_3795363_G->A 16 3795363 3795363 G A snp 1073.77 0/1 99 105 59 46 0.44 intronic rs3025684 CREBBP AD NM_001079846 exon10 c.17637+8G>A 0.211062 0.1935 0.160997 0.0879 0.2139 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_multiple_submitters\x2c_no_conflicts;CLNACC=RCV000081050.4;CLNDSDB=MedGen;CLNDSDBID=CN169374 ID=COSM148009;OCCURENCE=1(stomach) Uncertain 16_3801649_T->C 16 3801649 3801649 T C snp 316.77 0/1 99 43 28 15 0.35 intronic rs129982 CREBBP AD NM_001079846 exon12 c.24008-77T>C 0.103035 0.1895 Uncertain 16_3808053_A->- 16 3808053 3808053 A - indel 423.73 0/1 99 58 20 38 0.66 splicing rs75459669 CREBBP AD NM_001079846 exon14 c.30331+4delA 0.259385 0.245 0.270208 0.3133 0.3922 ID=COSM252981;OCCURENCE=1(ovary) Pathogenic 16_3811556_A->G 16 3811556 3811556 A G snp 2456.77 0/1 99 245 130 115 0.47 intronic rs886528 CREBBP AD NM_001079846 exon15 c.31255+2583A>G 0.423722 0.4077 0.470178 0.4100 0.4197 Uncertain 16_3820667_C->T 16 3820667 3820667 C T snp 1267.77 0/1 99 126 70 56 0.44 exonic rs3025694 CREBBP AD synonymous SNV NM_004380 exon14 c.G2784A p.P928P 0.0766773 0.1776 0.011929 0.0356 0.1942 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000145729.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 ID=COSM148010;OCCURENCE=1(stomach) Uncertain 16_3827553_G->A 16 3827553 3827553 G A snp 1273.77 0/1 99 123 67 56 0.46 intronic rs12051375 CREBBP AD NM_001079846 exon21 c.49895-60G>A 0.0980431 0.1875 0.023653 Uncertain 16_3827931_T->C 16 3827931 3827931 T C snp 1058.77 0/1 99 84 40 44 0.52 intronic rs130002 CREBBP AD NM_001079846 exon22 c.50293-80T>C 0.103834 0.1935 Uncertain 16_3828585_G->T 16 3828585 3828585 G T snp 411.77 0/1 99 25 9 16 0.64 intronic rs8052927 CREBBP AD NM_001079846 exon23 c.50982-115G>T 0.189696 0.1825 ID=COSN165095;OCCURENCE=1(central_nervous_system),1(breast) Uncertain 16_4033436_T->C 16 4033436 4033436 T C snp 1767.77 0/1 99 134 57 77 0.57 exonic rs2230739 ADCY9 AU nonsynonymous SNV NM_001116 exon7 c.A2316G p.I772M 0.260383 0.3819 0.256811 0.3572 0.4854 0.45 T 0.0 P -1.058 T 0.001 T 0.001 T ID=CM034003;DIS=Lower activity;TAG=FP;PUB=12972952 FP Pathogenic 16_4033522_C->T 16 4033522 4033522 C T snp 301.77 0/1 99 33 21 12 0.36 intronic rs3730129 ADCY9 AU NM_001116 exon5 c.17666+81C>T 0.114617 0.1835 Uncertain 16_4039141_A->G 16 4039141 4039141 A G snp 3677.77 1/1 99 120 0 120 1.0 intronic rs2072341 ADCY9 AU NM_001116 exon6 c.23322+44A>G 0.873802 0.7986 0.909497 0.9203 0.8403 Uncertain 16_4042449_C->T 16 4042449 4042449 C T snp 817.77 1/1 60 25 0 25 1.0 intronic rs2239307 ADCY9 AU NM_001116 exon7 c.26589+85C>T 0.558706 0.6429 Uncertain 16_4043292_C->G 16 4043292 4043292 C G snp 1605.77 1/1 99 57 0 57 1.0 intronic rs2239309 ADCY9 AU NM_001116 exon8 c.27631-114C>G 0.63738 0.6389 Uncertain 16_4164364_C->T 16 4164364 4164364 C T snp 6638.77 1/1 99 249 0 249 1.0 exonic rs2230738 ADCY9 AU synonymous SNV NM_001116 exon2 c.G1080A p.R360R 0.324281 0.6111 0.187317 0.3013 0.6490 Uncertain 16_4165432_T->C 16 4165432 4165432 T C snp 691.77 1/1 51 22 0 22 1.0 exonic rs2530898 ADCY9 AU synonymous SNV NM_001116 exon2 c.A12G p.P4P 0.9998 1 1.0000 1 Uncertain 16_4242093_C->T 16 4242093 4242093 C T snp 828.77 0/1 99 48 18 30 0.63 UTR3 rs8051399 SRL AU 0.567692 0.4821 Uncertain 16_4245393_T->C 16 4245393 4245393 T C snp 150.77 0/1 99 8 3 5 0.63 intronic rs11076822 SRL AU NM_001098814 exon2 c.3400-160T>C 0.542332 0.4534 Uncertain 16_4245426_C->T 16 4245426 4245426 C T snp 420.77 0/1 99 32 18 14 0.44 intronic rs11076823 SRL AU NM_001098814 exon2 c.3400-127C>T 0.542332 0.4544 Uncertain 16_4245693_A->G 16 4245693 4245693 A G snp 4542.77 1/1 99 152 0 152 1.0 exonic rs10852643 SRL AU synonymous SNV NM_001098814 exon5 c.T471C p.R157R 0.813299 0.755 0.778465 0.7392 0.7493 Uncertain 16_4247679_G->A 16 4247679 4247679 G A snp 38.77 0/1 67 6 4 2 0.33 intronic rs12449233 SRL AU NM_001098814 exon3 c.5646-120G>A 0.426917 0.4544 Uncertain 16_4254479_G->A 16 4254479 4254479 G A snp 1122.77 0/1 99 96 53 43 0.45 intronic rs4644864 SRL AU NM_001098814 exon5 c.12380-54G>A 0.236422 0.3343 Uncertain 16_4254523_C->T 16 4254523 4254523 C T snp 2126.77 0/1 99 188 102 86 0.46 intronic rs60137128 SRL AU NM_001098814 exon5 c.12380-10C>T 0.27496 0.2411 0.335918 0.3462 0.1965 Uncertain 16_4254699_G->A 16 4254699 4254699 G A snp 2508.77 0/1 99 200 101 99 0.49 intronic rs62039297 SRL AU NM_001098814 exon5 c.12482+64G>A 0.192093 0.2312 Uncertain 16_4254725_A->G 16 4254725 4254725 A G snp 1510.77 0/1 99 123 64 59 0.48 intronic rs8054937 SRL AU NM_001098814 exon5 c.12482+90A>G 0.639177 0.5466 Uncertain 16_4256983_G->A 16 4256983 4256983 G A snp 1078.77 0/1 99 90 42 48 0.53 intronic rs563346712 SRL AU NM_001098814 exon5 c.12482+2348G>A 0.000199681 0.001 0.2 T 1 N -1.001 T Uncertain 16_4310468_C->G 16 4310468 4310468 C G snp 3987.77 1/1 99 142 0 142 1.0 exonic rs251732 TFAP4 AU nonsynonymous SNV NM_003223 exon5 c.G654C p.Q218H 0.672724 0.7589 0.596429 0.5832 0.7955 0.57 T 0.000 P -0.916 T 0.0 T 0.0 T Pathogenic 16_4310709_T->C 16 4310709 4310709 T C snp 421.77 1/1 33 11 0 11 1.0 intronic rs251731 TFAP4 AU NM_003223 exon3 c.2541+113T>C 0.616214 0.7748 Uncertain 16_4386641_G->A 16 4386641 4386641 G A snp 1001.77 0/1 99 46 14 32 0.7 intronic rs9936480 GLIS2 AU NM_032575 exon6 c.4444-84G>A 0.207468 0.119 Uncertain 16_4386814_T->C 16 4386814 4386814 T C snp 7638.77 1/1 99 250 0 250 1.0 exonic rs669561 GLIS2 AU synonymous SNV NM_032575 exon6 c.T864C p.Y288Y 0.991214 1 0.974985 0.9796 0.9999 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000082303.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 16_4387261_A->C 16 4387261 4387261 A C snp 1128.77 0/1 99 106 55 51 0.48 exonic rs3810817 GLIS2 AU synonymous SNV NM_032575 exon6 c.A1311C p.A437A 0.299121 0.124 0.233453 0.2089 0.1589 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000082302.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 16_4390358_G->T 16 4390358 4390358 G T snp 1086.77 0/1 99 102 54 48 0.47 exonic rs11989 CORO7-PAM16 AU nonsynonymous SNV NM_016069 exon5 c.C340A p.Q114K 0.129193 0.12 0.086284 0.0771 0.0952 1 T 0.000 P -1.049 T 0.004 T 0.006 T Pathogenic 16_4391040_T->C 16 4391040 4391040 T C snp 1496.77 1/1 99 51 0 51 1.0 intronic rs2072151 CORO7-PAM16 AU NM_001201479 exon2 c.667+54T>C 0.334065 0.3413 0.259527 Uncertain 16_4393240_G->A 16 4393240 4393240 G A snp 1080.77 0/1 99 113 62 51 0.45 exonic CORO7-PAM16 AU nonsynonymous SNV NM_016069 exon2 c.C56T p.A19V 0 D 0.743 D 0.502 D 0.996 D 0.983 D Pathogenic 16_4393376_A->C 16 4393376 4393376 A C snp 271.77 0/1 99 14 5 9 0.64 intronic rs2289303 CORO7-PAM16 AU NM_001201479 exon4 c.2973+84A>C 0.219649 0.123 Uncertain 16_4407356_C->T 16 4407356 4407356 C T snp 134.77 0/1 99 15 10 5 0.33 intronic rs12923245 CORO7 AU NM_001201473 exon3 c.2102+96C>T Uncertain 16_4410916_G->C 16 4410916 4410916 G C snp 1154.77 0/1 99 89 46 43 0.48 intronic rs200755768 CORO7 AU NM_001201473 exon10 c.5785-27G>C 0.000599042 0.003 8.884e-05 0.0008 Uncertain 16_4432177_C->T 16 4432177 4432177 C T snp 1034.77 0/1 99 102 56 46 0.45 exonic rs184927151 VASN AU synonymous SNV NM_138440 exon2 c.C1299T p.P433P 0.000599042 0.003 0.0001 0.0018 Uncertain 16_4497122_G->C 16 4497122 4497122 G C snp 382.77 0/1 99 18 5 13 0.72 intronic rs35692056 DNAJA3 AU NM_001135110 exon8 c.21133+107G>C 0.113019 0.1002 Uncertain 16_4621726_A->- 16 4621726 4621726 A - indel 1269.73 1/1 87 29 0 29 1.0 intronic rs35531180 C16orf96 AU NM_001145011 exon2 c.15176+60delA 0.811102 0.997 Uncertain 16_4625126_G->A 16 4625126 4625126 G A snp 1692.77 0/1 99 148 78 70 0.47 intronic rs9673241 C16orf96 AU NM_001145011 exon5 c.18684-48G>A 0.445288 0.6052 0.496715 0.5021 0.5646 Uncertain 16_4629205_T->- 16 4629205 4629205 T - indel 244.77 1/1 21 7 0 7 1.0 intronic rs60755749 C16orf96 AU NM_001145011 exon6 c.22536+179delT 0.944688 1 Uncertain 16_4641815_G->- 16 4641815 4641815 G - indel 1452.73 1/1 99 39 0 39 1.0 intronic rs397855030 C16orf96 AU NM_001145011 exon10 c.35295+30delG 0.661741 0.8661 0.643582 0.7302 0.8842 Uncertain 16_4643452_G->A 16 4643452 4643452 G A snp 99.28 1/1 9 3 0 3 1.0 intronic rs6500619 C16orf96 AU NM_001145011 exon12 c.36827+135G>A 0.660743 0.8651 Uncertain 16_4649955_T->C 16 4649955 4649955 T C snp 259.8 1/1 21 8 0 8 1.0 intronic rs11076843 C16orf96 AU NM_001145011 exon16 c.43610-145T>C 0.878594 0.997 Uncertain 16_4649965_T->C 16 4649965 4649965 T C snp 481.77 1/1 36 14 0 14 1.0 intronic rs7403819 C16orf96 AU NM_001145011 exon16 c.43610-135T>C 0.953874 1 Uncertain 16_4660342_C->T 16 4660342 4660342 C T snp 2146.77 1/1 99 70 0 70 1.0 intronic rs841184 UBALD1 AU NM_145253 exon2 c.860-151C>T 0.817093 0.997 Uncertain 16_4664412_-->G 16 4664412 4664412 - G indel 549.73 1/1 57 19 0 19 1.0 intronic rs138923012 UBALD1 AU NM_145253 exon3 c.5045-266insG 0.706669 0.8611 1 . Uncertain 16_4664833_T->G 16 4664833 4664833 T G snp 2607.77 1/1 99 103 0 103 1.0 UTR5 rs860889 UBALD1 AU 0.996006 1 0.997021 0.9991 1 Uncertain 16_4674806_T->G 16 4674806 4674806 T G snp 205.84 1/1 18 6 0 6 1.0 upstream rs2450396 MGRN1 AU 0.902955 1 Uncertain 16_4674954_C->G 16 4674954 4674954 C G snp 3680.77 1/1 99 137 0 137 1.0 UTR5 rs3747587 MGRN1 AU 0.652556 0.8641 0.666445 0.8047 0.8762 Uncertain 16_4675116_G->T 16 4675116 4675116 G T snp 1835.77 1/1 99 60 0 60 1.0 intronic rs1386092 MGRN1 AU NM_001142291 exon1 c.88+67G>T 0.719649 0.8671 Uncertain 16_4675192_A->G 16 4675192 4675192 A G snp 248.8 1/1 21 7 0 7 1.0 intronic rs1825689 MGRN1 AU NM_001142291 exon1 c.88+143A>G 0.651957 0.8641 Uncertain 16_4707432_A->G 16 4707432 4707432 A G snp 1316.77 1/1 96 41 0 41 1.0 intronic rs3747590 MGRN1 AU NM_001142291 exon5 c.32403+68A>G 0.257987 0.4236 Uncertain 16_4721584_CAT->- 16 4721584 4721586 CAT - indel 4849.73 1/1 99 102 0 102 1.0 intronic rs1160869 MGRN1 AU NM_001142291 exon9 c.46499+124_46499+126delCAT 0.14357 0.2609 Uncertain 16_4743698_G->A 16 4743698 4743698 G A snp 442.77 0/1 99 38 22 16 0.42 UTR5 rs553855306 NUDT16L1 AU 0.000199681 0.001 0.0005 0.0010 Uncertain 16_4748457_C->G 16 4748457 4748457 C G snp 454.77 0/1 99 42 22 20 0.48 exonic rs79936810 ANKS3 AU synonymous SNV NM_133450 exon14 c.G1695C p.R565R 0.000998403 0.005 0.0016 0.0184 Uncertain 16_4776453_G->C 16 4776453 4776453 G C snp 250.8 1/1 21 7 0 7 1.0 intronic rs35203962 ANKS3 AU NM_133450 exon14 c.29631-206G>C 0.149561 0.2827 Uncertain 16_4796871_A->G 16 4796871 4796871 A G snp 3148.77 1/1 99 113 0 113 1.0 intronic rs2341988 C16orf71 AU NM_139170 exon8 c.10412-56A>G 0.967452 1 Uncertain 16_4797109_G->A 16 4797109 4797109 G A snp 286.78 1/1 24 8 0 8 1.0 intronic rs12926158 C16orf71 AU NM_139170 exon8 c.10511+83G>A 0.140775 0.255 Uncertain 16_4812816_G->A 16 4812816 4812816 G A snp 1916.77 1/1 99 82 1 81 0.99 intronic rs2290561 ZNF500 AU NM_001303450 exon5 c.11127+59G>A 0.144169 0.2609 Uncertain 16_4815425_T->C 16 4815425 4815425 T C snp 655.77 0/1 99 46 23 23 0.5 intronic rs4786548 ZNF500 AU NM_001303450 exon6 c.13935-140T>C 0.53754 0.6359 Uncertain 16_4815501_G->C 16 4815501 4815501 G C snp 1686.77 0/1 99 126 54 72 0.57 intronic rs12928542 ZNF500 AU NM_001303450 exon6 c.13935-64G>C 0.491613 0.5278 Uncertain 16_4815608_A->G 16 4815608 4815608 A G snp 3346.77 1/1 99 124 0 124 1.0 exonic rs4786549 ZNF500 AU synonymous SNV NM_001303450 exon2 c.T372C p.L124L 0.934505 0.999 0.938356 0.9818 0.9999 Uncertain 16_4833421_A->G 16 4833421 4833421 A G snp 478.77 1/1 36 14 0 14 1.0 intronic rs7201715 SEPT12 AD NM_144605 exon4 c.5665-41A>G 0.285543 0.2946 0.208250 0.2792 0.3051 Uncertain 16_4833970_C->T 16 4833970 4833970 C T snp 3073.77 1/1 99 114 0 114 1.0 exonic rs759991 SEPT12 AD synonymous SNV NM_144605 exon5 c.G474A p.V158V 0.313099 0.2966 0.245806 0.2885 0.3054 ID=CS122595;DIS=Male infertility, association with;TAG=DFP;PUB=22479503 DFP Uncertain 16_4834165_C->T 16 4834165 4834165 C T snp 1585.77 1/1 99 47 0 47 1.0 intronic rs8043579 SEPT12 AD NM_144605 exon6 c.6272+96C>T 0.290935 0.2946 Uncertain 16_4834168_C->T 16 4834168 4834168 C T snp 1481.77 1/1 99 43 1 42 0.98 intronic rs8043725 SEPT12 AD NM_144605 exon6 c.6272+99C>T 0.291134 0.2946 Uncertain 16_4835794_-->A 16 4835794 4835794 - A indel 861.73 1/1 56 24 1 23 0.96 intronic rs3833435 SEPT12 AD NM_144605 exon7 c.8010-13insA 0.427915 0.3234 0.414457 0.4226 0.3371 Uncertain 16_4836155_-->T 16 4836155 4836155 - T indel 1056.73 1/1 93 41 0 41 1.0 intronic rs71402568 SEPT12 AD NM_144605 exon8 c.8309+49insT 0.500599 0.3353 0.508067 0.5014 0.3543 Uncertain 16_4837362_T->C 16 4837362 4837362 T C snp 1935.77 1/1 99 60 0 60 1.0 intronic rs741695 SEPT12 AD NM_144605 exon9 c.9683-118T>C 0.365415 0.3036 Uncertain 16_4837545_A->G 16 4837545 4837545 A G snp 6269.77 1/1 99 236 0 236 1.0 exonic rs9673735 SEPT12 AD synonymous SNV NM_144605 exon2 c.T102C p.A34A 0.303514 0.3026 0.236648 0.2933 0.3197 Uncertain 16_4846068_T->C 16 4846068 4846068 T C snp 3310.77 1/1 99 121 0 121 1.0 intronic rs2075465 SMIM22 AU NM_001253791 exon5 c.314+19T>C 0.523962 0.3244 0.5351 0.315 Uncertain 16_4846336_G->A 16 4846336 4846336 G A snp 2240.77 1/1 99 73 0 73 1.0 UTR3 rs62036088 SMIM22 AU 0.276757 0.2738 Uncertain 16_4847524_T->C 16 4847524 4847524 T C snp 1722.77 1/1 99 66 0 66 1.0 intronic rs1982515 ROGDI AR NM_024589 exon1 c.42+22T>C 0.391973 0.3185 0.387717 0.4571 0.3322 Uncertain 16_4847640_G->A 16 4847640 4847640 G A snp 212.77 0/1 99 60 47 13 0.22 intronic rs4995111 ROGDI AR NM_024589 exon2 c.254-74G>A Uncertain 16_4847641_T->C 16 4847641 4847641 T C snp 226.77 0/1 99 61 48 13 0.21 intronic rs4995112 ROGDI AR NM_024589 exon2 c.254-73T>C Uncertain 16_4847658_T->C 16 4847658 4847658 T C snp 175.77 0/1 99 69 56 13 0.19 intronic rs4995113 ROGDI AR NM_024589 exon2 c.254-56T>C 0.0196 0.0075 Uncertain 16_4848494_C->G 16 4848494 4848494 C G snp 519.77 1/1 42 14 0 14 1.0 intronic rs8053790 ROGDI AR NM_024589 exon5 c.1109-75C>G 0.563698 0.3204 Uncertain 16_4855279_A->G 16 4855279 4855279 A G snp 3926.77 1/1 99 142 0 142 1.0 exonic rs8064024 GLYR1 AU synonymous SNV NM_032569 exon16 c.T1620C p.S540S 0.576677 0.3244 0.575881 0.5215 0.3452 Uncertain 16_4861709_G->C 16 4861709 4861709 G C snp 4244.77 1/1 99 159 0 159 1.0 exonic rs2085329 GLYR1 AU nonsynonymous SNV NM_032569 exon14 c.C1377G p.H459Q 1 1 0.69 T 0.000 P -1.019 T 0.0 T 0.0 T Pathogenic 16_4867565_A->G 16 4867565 4867565 A G snp 1360.77 1/1 99 38 0 38 1.0 intronic rs6500635 GLYR1 AU NM_032569 exon7 c.12362-33A>G 0.560503 0.3185 0.560259 0.5110 0.3364 Uncertain 16_4872628_G->A 16 4872628 4872628 G A snp 50.74 1/1 6 2 0 2 1.0 intronic rs9926458 GLYR1 AU NM_032569 exon10 c.17639-247G>A 0.428514 0.3373 Uncertain 16_4872760_C->T 16 4872760 4872760 C T snp 2683.77 1/1 99 96 0 96 1.0 intronic rs11861487 GLYR1 AU NM_032569 exon10 c.17639-115C>T 0.195887 0.2292 Uncertain 16_4872970_G->C 16 4872970 4872970 G C snp 3010.77 1/1 99 106 0 106 1.0 intronic rs2075466 GLYR1 AU NM_032569 exon10 c.17696+38G>C 0.342252 0.2827 0.272818 0.3033 0.2906 Uncertain 16_4897153_A->G 16 4897153 4897153 A G snp 1866.77 1/1 97 72 2 70 0.97 intronic rs2072595 GLYR1 AU NM_032569 exon16 c.41992-75A>G 0.588259 0.3363 Uncertain 16_4903243_C->T 16 4903243 4903243 C T snp 717.77 1/1 54 21 0 21 1.0 intronic rs8056889 UBN1 AU NM_001288656 exon2 c.249+76C>T 0.569489 0.3433 Uncertain 16_4908504_C->G 16 4908504 4908504 C G snp 2536.77 1/1 99 76 0 76 1.0 intronic rs3747613 UBN1 AU NM_001288656 exon4 c.5650-64C>G 0.498802 0.3482 Uncertain 16_4908956_C->T 16 4908956 4908956 C T snp 1744.77 1/1 99 55 0 55 1.0 intronic rs8060576 UBN1 AU NM_001288656 exon5 c.6107-69C>T 0.176717 0.2143 0.1565 0.2225 Uncertain 16_4920412_T->C 16 4920412 4920412 T C snp 7291.77 1/1 99 250 0 250 1.0 intronic rs7200395 UBN1 AU NM_001288656 exon9 c.17424+70T>C 0.376797 0.3085 Uncertain 16_4920661_T->C 16 4920661 4920661 T C snp 2556.77 1/1 99 78 0 78 1.0 intronic rs6500637 UBN1 AU NM_001288656 exon10 c.17717+26T>C 0.438698 0.3046 0.406264 0.3965 0.3081 Uncertain 16_4923091_G->A 16 4923091 4923091 G A snp 3170.77 1/1 99 108 0 108 1.0 intronic rs2251666 UBN1 AU NM_001288656 exon14 c.20156+17G>A 0.361222 0.3234 0.314684 0.3636 0.3116 Uncertain 16_4925405_T->C 16 4925405 4925405 T C snp 1293.77 0/1 99 105 52 53 0.5 exonic rs562315347 UBN1 AU synonymous SNV NM_001079514 exon15 c.T2994C p.V998V 0.000199681 0.001 0.0001 0.0015 Uncertain 16_4926726_G->A 16 4926726 4926726 G A snp 921.77 1/1 72 26 0 26 1.0 intronic rs2660226 UBN1 AU NM_001288656 exon16 c.23953-145G>A 0.175919 0.2054 Uncertain 16_4930100_C->T 16 4930100 4930100 C T snp 4416.77 1/1 99 163 0 163 1.0 exonic rs1876359 UBN1 AU synonymous SNV NM_001079514 exon18 c.C3372T p.H1124H 0.379593 0.3343 0.336925 0.3790 0.3274 Uncertain 16_4933301_A->T 16 4933301 4933301 A T snp 56.74 1/1 6 2 0 2 1.0 UTR3 rs2734732 PPL AU 0.937899 1 Uncertain 16_4935146_C->T 16 4935146 4935146 C T snp 6309.77 1/1 99 229 2 227 0.99 exonic rs1049206 PPL AU synonymous SNV NM_002705 exon22 c.G3510A p.V1170V 0.367612 0.2907 0.314684 0.3324 0.2902 Uncertain 16_4935285_G->A 16 4935285 4935285 G A snp 1685.77 0/1 99 131 60 71 0.54 exonic rs567379184 PPL AU nonsynonymous SNV NM_002705 exon22 c.C3371T p.A1124V 0.000199681 0.001 9.895e-05 0.0014 1 T 1 N -1.000 T 0.001 T 0.001 T Pathogenic 16_4935636_G->A 16 4935636 4935636 G A snp 3248.77 1/1 99 109 0 109 1.0 exonic rs2075639 PPL AU nonsynonymous SNV NM_002705 exon22 c.C3020T p.A1007V 0.119409 0.2242 0.062269 0.1093 0.2306 0.08 T 0.000 P -1.069 T 0.239 T 0.01 T Pathogenic 16_4936205_G->T 16 4936205 4936205 G T snp 141.03 1/1 12 4 0 4 1.0 intronic rs741769 PPL AU NM_002705 exon1 c.2664+157G>T 0.36861 0.3373 Uncertain 16_4936215_A->G 16 4936215 4936215 A G snp 96.28 1/1 9 3 0 3 1.0 intronic rs2075638 PPL AU NM_002705 exon1 c.2664+167A>G 0.115815 0.1875 Uncertain 16_4937339_A->G 16 4937339 4937339 A G snp 141.03 1/1 12 4 0 4 1.0 intronic rs2660238 PPL AU NM_002705 exon2 c.3844+111A>G 0.804912 0.9474 Uncertain 16_4938160_T->G 16 4938160 4938160 T G snp 2883.77 1/1 99 108 0 108 1.0 exonic rs2734742 PPL AU nonsynonymous SNV NM_002705 exon20 c.A2457C p.R819S 0.938299 1 0.930968 0.9805 1 0.74 T 0.000 P -0.985 T 0.0 T 0.0 T Pathogenic 16_4939225_-->TT 16 4939225 4939225 - TT indel 223.77 1/1 21 7 0 7 1.0 intronic rs140073794 PPL AU NM_002705 exon4 c.5678+163insTT Uncertain 16_4940809_A->G 16 4940809 4940809 A G snp 2709.77 1/1 99 100 0 100 1.0 exonic rs2471844 PPL AU synonymous SNV NM_002705 exon17 c.T2082C p.C694C 0.928914 1 0.924565 0.9793 1 Uncertain 16_4940989_A->C 16 4940989 4940989 A C snp 205.84 1/1 18 6 0 6 1.0 intronic rs2471843 PPL AU NM_002705 exon6 c.7538+67A>C 0.928914 1 Uncertain 16_4941662_T->C 16 4941662 4941662 T C snp 301.78 1/1 24 8 0 8 1.0 intronic rs11076855 PPL AU NM_002705 exon7 c.8427-149T>C 0.927516 1 Uncertain 16_4944303_A->G 16 4944303 4944303 A G snp 180.9 1/1 15 5 0 5 1.0 intronic rs2734733 PPL AU NM_002705 exon11 c.11083-164A>G 0.865815 1 Uncertain 16_4944518_C->G 16 4944518 4944518 C G snp 4189.77 1/1 99 161 1 160 0.99 exonic rs1876363 PPL AU synonymous SNV NM_002705 exon12 c.G1344C p.V448V 0.865615 1 0.851932 0.9589 1 Uncertain 16_4945225_T->C 16 4945225 4945225 T C snp 6691.77 1/1 99 250 0 250 1.0 intronic rs2660246 PPL AU NM_002705 exon12 c.11877-36T>C 0.255192 0.25 0.206159 0.1855 0.2655 Uncertain 16_4948936_C->T 16 4948936 4948936 C T snp 443.77 0/1 99 28 12 16 0.57 intronic rs12443906 PPL AU NM_002705 exon15 c.15629-77C>T 0.602236 0.7044 Uncertain 16_4961003_A->G 16 4961003 4961003 A G snp 1452.77 1/1 99 45 0 45 1.0 intronic rs8057613 PPL AU NM_002705 exon21 c.27566+53A>G 0.88778 0.9375 Uncertain 16_5009433_G->A 16 5009433 5009433 G A snp 2447.77 0/1 99 189 86 103 0.54 intronic rs7200245 SEC14L5 AU NM_014692 exon2 c.63+46G>A 0.648562 0.7798 0.578163 0.5456 0.7862 Uncertain 16_5037498_-->GGA 16 5037498 5037498 - GGA indel 3255.73 ./1 99 102 10 92 0.9 intronic rs59154516 SEC14L5 AU NM_014692 exon3 c.28233-59insGGA Uncertain 16_5037498_-->G 16 5037498 5037498 - G indel 3255.73 ./1 99 102 10 92 0.9 intronic SEC14L5 AU NM_014692 exon3 c.28233-59insG Uncertain 16_5038410_A->T 16 5038410 5038410 A T snp 234.77 0/1 99 12 4 8 0.67 intronic rs2972261 SEC14L5 AU NM_014692 exon4 c.28957+129A>T 0.573083 0.7381 Uncertain 16_5040717_C->T 16 5040717 5040717 C T snp 423.77 0/1 99 37 21 16 0.43 intronic rs3743845 SEC14L5 AU NM_014692 exon5 c.31443-50C>T 0.197684 0.1954 0.219105 Uncertain 16_5041778_T->C 16 5041778 5041778 T C snp 1690.77 0/1 99 100 32 68 0.68 intronic rs2972265 SEC14L5 AU NM_014692 exon6 c.32514-60T>C 0.776358 0.8046 Uncertain 16_5046787_G->C 16 5046787 5046787 G C snp 679.77 0/1 99 60 29 31 0.52 intronic rs2270260 SEC14L5 AU NM_014692 exon8 c.37531-68G>C 0.412939 0.2629 Uncertain 16_5058791_A->G 16 5058791 5058791 A G snp 229.77 0/1 99 11 4 7 0.64 intronic rs3743842 SEC14L5 AU NM_014692 exon14 c.49325+142A>G 0.204273 0.1637 Uncertain 16_5061085_A->C 16 5061085 5061085 A C snp 1494.77 1/1 99 50 0 50 1.0 intronic rs2908669 SEC14L5 AU NM_014692 exon15 c.51771-10A>C 0.937899 0.9921 0.892480 0.9007 0.9942 Uncertain 16_5075542_G->A 16 5075542 5075542 G A snp 472.77 0/1 99 70 48 22 0.31 exonic rs887854 NAGPA AU synonymous SNV NM_016256 exon10 c.C1485T p.N495N 0.792532 0.8224 0.717254 0.7017 0.8360 Uncertain 16_5075633_G->A 16 5075633 5075633 G A snp 1241.77 0/1 99 100 41 59 0.59 exonic rs7188856 NAGPA AU nonsynonymous SNV NM_016256 exon10 c.C1394T p.T465I 0.200879 0.1736 0.276401 0.3010 0.1705 0.07 T 0.0 P -0.971 T 0.001 T 0.002 T Pathogenic 16_5077396_GGGAGGA->- 16 5077396 5077402 GGGAGGA - indel 1981.73 0/1 99 58 20 38 0.66 intronic rs59131700 NAGPA AU NM_016256 exon3 c.1902+16_1902+22delGGGAGGA 0.367612 0.3323 0.378090 0.3853 0.3400 Uncertain 16_5078841_T->C 16 5078841 5078841 T C snp 4105.77 1/1 99 159 1 158 0.99 intronic rs1995278 NAGPA AU NM_016256 exon6 c.3402-39T>C 0.999201 0.999 0.999692 0.9998 0.9998 Uncertain 16_5080523_C->T 16 5080523 5080523 C T snp 1260.77 0/1 99 115 54 61 0.53 intronic rs2102065 NAGPA AU NM_016256 exon7 c.5016+29C>T 0.185104 0.1726 0.233296 0.2289 0.1918 Uncertain 16_5083483_T->C 16 5083483 5083483 T C snp 1016.77 0/1 99 74 32 42 0.57 exonic rs2972272 NAGPA AU synonymous SNV NM_016256 exon2 c.A333G p.G111G 0.730232 0.8274 0.682899 0.7102 0.8246 Uncertain 16_5094570_G->A 16 5094570 5094570 G A snp 622.77 0/1 99 55 26 29 0.53 UTR3 rs8055684 C16orf89 AU 0.290735 0.2976 0.236294 0.3854 0.4201 Uncertain 16_5097947_A->G 16 5097947 5097947 A G snp 1415.77 0/1 99 141 75 66 0.47 exonic rs1127920 C16orf89 AU nonsynonymous SNV NM_001098514 exon7 c.T887C p.L296S 0.226038 0.2034 0.264781 0.3479 0.1729 0.05 T 0.0 P -1.033 T 0.651 T 0.382 P Pathogenic 16_5105365_C->T 16 5105365 5105365 C T snp 1179.77 0/1 99 104 53 51 0.49 intronic rs741167 C16orf89 AU NM_001098514 exon3 c.11003+14C>T 0.184305 0.3175 0.146519 0.2098 0.4086 Uncertain 16_5105440_T->C 16 5105440 5105440 T C snp 1076.77 1/1 78 32 0 32 1.0 intronic rs741166 C16orf89 AU NM_001098514 exon3 c.11003+89T>C 0.526957 0.5665 Uncertain 16_5105486_A->C 16 5105486 5105486 A C snp 176.9 1/1 15 5 0 5 1.0 intronic rs741165 C16orf89 AU NM_001098514 exon3 c.11003+135A>C 0.48762 0.6647 Uncertain 16_5106184_C->T 16 5106184 5106184 C T snp 3201.82 1/1 99 128 0 128 1.0 exonic rs741164 C16orf89 AU synonymous SNV NM_001098514 exon5 c.G633A p.G211G 0.522963 0.5665 0.568338 0.5848 0.5489 Uncertain 16_5110271_C->T 16 5110271 5110271 C T snp 2825.77 0/1 99 250 127 123 0.49 intronic rs2270834 C16orf89 AU NM_001098514 exon6 c.15938-15C>T 0.17492 0.2946 0.140379 0.1655 0.3133 Uncertain 16_5122072_-->GTCT 16 5122072 5122072 - GTCT indel 4307.73 0/1 99 162 85 77 0.48 intronic rs112683515 ALG1 AR NM_019109 exon1 c.208+14insGTCT 0.583466 0.6448 0.513984 0.6041 0.6824 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000081985.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 16_5122191_-->G 16 5122191 5122191 - G indel 2473.73 1/1 99 69 0 69 1.0 intronic rs34061670 ALG1 AR NM_019109 exon1 c.208+133insG 0.94369 1 Uncertain 16_5125365_C->T 16 5125365 5125365 C T snp 4147.77 1/1 99 147 0 147 1.0 intronic rs4786590 ALG1 AR NM_019109 exon4 c.3538-23C>T 0.942093 1 0.939895 0.9783 1 Uncertain 16_5127335_T->A 16 5127335 5127335 T A snp 3329.77 1/1 99 122 0 122 1.0 intronic rs11076869 ALG1 AR NM_019109 exon5 c.5595-110T>A 0.940895 1 Uncertain 16_5649140_-->TAGGAAA 16 5649140 5649140 - TAGGAAA indel 9189.73 0/1 99 244 146 98 0.4 intergenic rs71404537 EEF2KMT AU 0.754992 0.9573 0.6651 0.9495 Uncertain 16_6070168_C->T 16 6070168 6070168 C T snp 269.9 0/1 15 9 1 8 0.89 intronic rs74006557 RBFOX1 AU 0.121605 0.128 Uncertain 16_6367279_T->G 16 6367279 6367279 T G snp 56.74 1/1 6 2 0 2 1.0 intronic rs1420031 RBFOX1 AU 0.496805 0.4137 Uncertain 16_6533549_C->A 16 6533549 6533549 C A snp 626.77 0/1 99 66 38 28 0.42 intronic rs7187508 RBFOX1 AU 0.558506 0.3829 0.4960 0.3986 Uncertain 16_6704474_A->G 16 6704474 6704474 A G snp 1808.77 0/1 99 112 45 67 0.6 intronic rs11640601 RBFOX1 AU 0.638978 0.5942 Uncertain 16_6704480_C->G 16 6704480 6704480 C G snp 1910.77 0/1 99 120 48 72 0.6 intronic rs11645523 RBFOX1 AU 0.638578 0.5942 Uncertain 16_6704749_T->G 16 6704749 6704749 T G snp 1884.77 0/1 99 142 63 79 0.56 intronic rs2058527 RBFOX1 AU 0.756789 0.7341 Uncertain 16_7102037_T->- 16 7102037 7102037 T - indel 2400.73 0/1 99 134 66 68 0.51 intronic rs35212568 RBFOX1 AU 0.538538 0.7629 0.485247 0.6153 0.7511 Uncertain 16_7704032_T->C 16 7704032 7704032 T C snp 227.77 0/1 94 11 3 8 0.73 intronic rs2302216 RBFOX1 AU NM_001142334 exon10 c.601877+83T>C 0.717652 0.7768 Uncertain 16_7715108_T->C 16 7715108 7715108 T C snp 4261.77 1/1 99 156 0 156 1.0 intronic rs8064206 RBFOX1 AU NM_001142334 exon11 c.612898+138T>C 0.960863 1 Uncertain 16_7726691_A->G 16 7726691 7726691 A G snp 394.77 1/1 30 12 0 12 1.0 intronic rs2191134 RBFOX1 AU NM_001142334 exon12 c.624703-84A>G 0.947684 0.999 Uncertain 16_7726757_A->G 16 7726757 7726757 A G snp 591.77 0/1 99 40 14 26 0.65 intronic rs2302213 RBFOX1 AU NM_001142334 exon12 c.624703-18A>G 0.100839 0.0853 0.106357 0.1277 0.0851 Uncertain 16_7758948_G->C 16 7758948 7758948 G C snp 1102.77 0/1 99 84 38 46 0.55 intronic rs2270127 RBFOX1 AU NM_001142334 exon13 c.656985-109G>C 0.309505 0.5 Uncertain 16_7759164_T->C 16 7759164 7759164 T C snp 3779.77 1/1 99 133 0 133 1.0 intronic rs7196923 RBFOX1 AU NM_001142334 exon13 c.657061+31T>C 1 1 1.0000 1 Uncertain 16_7759206_G->T 16 7759206 7759206 G T snp 692.77 0/1 99 63 38 25 0.4 intronic rs62011897 RBFOX1 AU NM_001142334 exon13 c.657061+73G>T 0.234425 0.0565 Uncertain 16_8619750_C->T 16 8619750 8619750 C T snp 870.77 0/1 99 61 25 36 0.59 UTR3 rs7198383 TMEM114 AU 0.707268 0.7917 0.7082 0.8073 Uncertain 16_8620096_T->C 16 8620096 8620096 T C snp 479.77 0/1 99 38 21 17 0.45 intronic rs9922116 TMEM114 AU NM_001290097 exon1 c.233+89T>C 0.872804 0.8204 Uncertain 16_8722629_G->C 16 8722629 8722629 G C snp 1774.77 0/1 99 133 56 77 0.58 exonic rs2270286 METTL22 AU nonsynonymous SNV NM_024109 exon3 c.G176C p.W59S 0.175719 0.3105 0.141494 0.2065 0.3050 0.65 T 0.457 P -1.019 T 0.01 T 0.004 T Pathogenic 16_8728953_C->T 16 8728953 8728953 C T snp 2415.77 1/1 99 88 0 88 1.0 intronic rs1731044 METTL22 AU NM_024109 exon4 c.9414+17C>T 0.985623 1 0.986486 0.9963 1 Uncertain 16_8729254_C->A 16 8729254 8729254 C A snp 1028.77 1/1 75 38 0 38 1.0 intronic rs3108687 METTL22 AU NM_024109 exon5 c.9647+85C>A 0.986422 1 Uncertain 16_8729275_T->C 16 8729275 8729275 T C snp 607.77 1/1 45 25 0 25 1.0 intronic rs1641040 METTL22 AU NM_024109 exon5 c.9647+106T>C 0.986422 1 Uncertain 16_8729323_A->T 16 8729323 8729323 A T snp 379.77 1/1 30 13 0 13 1.0 intronic rs1731043 METTL22 AU NM_024109 exon5 c.9647+154A>T 0.986422 1 Uncertain 16_8732733_C->G 16 8732733 8732733 C G snp 93.28 1/1 9 3 0 3 1.0 intronic rs1362345 METTL22 AU NM_024109 exon6 c.13425-214C>G 0.985623 1 Uncertain 16_8732883_A->- 16 8732883 8732883 A - indel 5375.73 1/1 99 149 0 149 1.0 intronic rs5815485 METTL22 AU NM_024109 exon6 c.13425-64delA 0.985623 1 Uncertain 16_8733071_A->G 16 8733071 8733071 A G snp 1526.77 1/1 99 44 0 44 1.0 intronic rs1641048 METTL22 AU NM_024109 exon6 c.13497+52A>G 0.985623 1 0.985676 0.9963 1 Uncertain 16_8733154_G->A 16 8733154 8733154 G A snp 50.74 1/1 6 2 0 2 1.0 intronic rs1641049 METTL22 AU NM_024109 exon6 c.13497+135G>A 0.985623 1 Uncertain 16_8734739_G->T 16 8734739 8734739 G T snp 48.74 1/1 6 2 0 2 1.0 intronic rs190296153 METTL22 AU NM_024109 exon7 c.15465-248G>T Uncertain 16_8734803_G->A 16 8734803 8734803 G A snp 640.78 0/1 27 26 2 24 0.92 intronic rs11646452 METTL22 AU NM_024109 exon7 c.15465-184G>A Uncertain 16_8734830_-->CTGGCTGT 16 8734830 8734830 - CTGGCTGT indel 3681.73 1/1 99 44 0 44 1.0 intronic rs71152912 METTL22 AU NM_024109 exon7 c.15465-157insCTGGCTGT Uncertain 16_8735120_T->C 16 8735120 8735120 T C snp 2624.77 1/1 99 76 0 76 1.0 intronic rs8062990 METTL22 AU NM_024109 exon7 c.15519+79T>C 0.914537 1 Uncertain 16_8735200_G->A 16 8735200 8735200 G A snp 3281.77 1/1 99 120 0 120 1.0 intronic rs8045911 METTL22 AU NM_024109 exon7 c.15519+159G>A 0.914537 1 Uncertain 16_8735212_T->C 16 8735212 8735212 T C snp 3670.77 1/1 99 131 0 131 1.0 intronic rs1629322 METTL22 AU NM_024109 exon7 c.15519+171T>C 0.985823 1 0.9947 1 Uncertain 16_8735245_C->T 16 8735245 8735245 C T snp 4478.77 1/1 99 165 0 165 1.0 intronic rs1641055 METTL22 AU NM_024109 exon7 c.15519+204C>T 0.985823 1 0.9957 1 Uncertain 16_8735355_A->G 16 8735355 8735355 A G snp 2927.77 1/1 99 110 0 110 1.0 intronic rs1641056 METTL22 AU NM_024109 exon7 c.15519+314A>G 0.985823 1 Uncertain 16_8736028_T->C 16 8736028 8736028 T C snp 5442.77 1/1 99 202 0 202 1.0 exonic rs1614616 METTL22 AU synonymous SNV NM_024109 exon8 c.T871C p.L291L 0.985823 1 0.986732 0.9962 0.9995 Uncertain 16_8736150_A->C 16 8736150 8736150 A C snp 4742.77 1/1 99 148 0 148 1.0 intronic rs1615559 METTL22 AU NM_024109 exon8 c.16542+86A>C 0.985823 1 Uncertain 16_8736246_G->A 16 8736246 8736246 G A snp 6986.77 1/1 99 250 0 250 1.0 intronic rs1731007 METTL22 AU NM_024109 exon9 c.16797-73G>A 0.985823 1 Uncertain 16_8736264_G->A 16 8736264 8736264 G A snp 2884.77 0/1 99 250 134 116 0.46 intronic rs2241102 METTL22 AU NM_024109 exon9 c.16797-55G>A 0.100839 0.1032 Uncertain 16_8736499_C->T 16 8736499 8736499 C T snp 1220.77 1/1 90 32 0 32 1.0 intronic rs1618219 METTL22 AU NM_024109 exon9 c.16900+77C>T 0.985823 1 Uncertain 16_8738350_C->T 16 8738350 8738350 C T snp 3120.77 1/1 99 116 1 115 0.99 intronic rs11645418 METTL22 AU NM_024109 exon10 c.18891-63C>T 0.849042 1 0.8773 1 Uncertain 16_8738398_A->G 16 8738398 8738398 A G snp 4981.77 1/1 99 182 0 182 1.0 intronic rs1641065 METTL22 AU NM_024109 exon10 c.18891-15A>G 0.985823 1 0.986690 0.9962 1 Uncertain 16_8738427_T->C 16 8738427 8738427 T C snp 5232.77 1/1 99 195 0 195 1.0 exonic rs1641066 METTL22 AU synonymous SNV NM_024109 exon10 c.T1024C p.L342L 0.985823 1 0.986574 0.9962 1 Uncertain 16_8738499_G->A 16 8738499 8738499 G A snp 4075.77 1/1 99 156 1 155 0.99 exonic rs1731000 METTL22 AU nonsynonymous SNV NM_024109 exon10 c.G1096A p.A366T 0.986222 1 0.986995 0.9963 1 0.57 T 0.0 P -0.986 T 0.006 T 0.004 T Pathogenic 16_8738579_A->G 16 8738579 8738579 A G snp 1527.77 1/1 99 45 0 45 1.0 exonic rs1641067 METTL22 AU synonymous SNV NM_024109 exon10 c.A1176G p.Q392Q 0.985823 1 0.987045 0.9964 1 Uncertain 16_8738622_C->T 16 8738622 8738622 C T snp 803.77 1/1 60 21 0 21 1.0 intronic rs9933132 METTL22 AU NM_024109 exon10 c.19060+40C>T 0.985823 1 0.987144 0.9963 1 Uncertain 16_8738641_A->G 16 8738641 8738641 A G snp 459.77 1/1 36 12 0 12 1.0 intronic rs1730999 METTL22 AU NM_024109 exon10 c.19060+59A>G 0.986222 0.999 0.9961 0.9998 Uncertain 16_8739954_G->A 16 8739954 8739954 G A snp 990.77 1/1 72 28 0 28 1.0 intronic rs1641070 METTL22 AU NM_024109 exon11 c.20442-10G>A 0.985623 1 0.986574 0.9962 0.9999 Uncertain 16_8740015_A->C 16 8740015 8740015 A C snp 1944.77 1/1 99 67 0 67 1.0 UTR3 rs1730994 METTL22 AU 0.985423 1 0.986864 0.9961 1 Uncertain 16_8740418_T->C 16 8740418 8740418 T C snp 5042.77 1/1 99 174 0 174 1.0 downstream rs1641072 METTL22 AU 0.987021 1 0.9970 1 Uncertain 16_8740503_G->A 16 8740503 8740503 G A snp 3208.76 1/1 99 112 0 112 1.0 downstream rs1730992 METTL22 AU 0.985823 1 0.9974 1 Uncertain 16_8740653_C->T 16 8740653 8740653 C T snp 1400.77 1/1 99 48 0 48 1.0 downstream rs1641073 METTL22 AU 0.985823 1 Uncertain 16_8816812_C->G 16 8816812 8816812 C G snp 594.77 0/1 99 39 17 22 0.56 intronic rs1273396 ABAT AR 0.067492 0.0873 Uncertain 16_8829715_T->C 16 8829715 8829715 T C snp 1008.77 0/1 99 92 50 42 0.46 intronic rs1640998 ABAT AR NM_000663 exon2 c.70+49T>C 0.343051 0.2103 0.348282 0.3816 0.2339 Uncertain 16_8832491_T->G 16 8832491 8832491 T G snp 486.77 0/1 99 23 9 14 0.61 intronic rs7205552 ABAT AR NM_000663 exon2 c.70+2825T>G 0.118411 0.2113 Uncertain 16_8839954_A->G 16 8839954 8839954 A G snp 193.77 0/1 99 28 19 9 0.32 exonic rs1731017 ABAT AR nonsynonymous SNV NM_020686 exon3 c.A167G p.Q56R 0.500799 0.5992 0.514006 0.5841 0.5945 0.42 T 0.000 P -0.948 T 0.0 T 0.0 T Pathogenic 16_8841794_T->G 16 8841794 8841794 T G snp 191.77 0/1 97 9 3 6 0.67 intronic rs753071 ABAT AR NM_000663 exon4 c.12368-170T>G 0.463858 0.5972 Uncertain 16_8841960_T->C 16 8841960 8841960 T C snp 1313.77 0/1 99 132 70 62 0.47 splicing rs1641010 ABAT AR NM_000663 exon4 c.12368-4T>C 0.469449 0.5972 0.475758 0.5704 0.5917 Pathogenic 16_8842128_T->A 16 8842128 8842128 T A snp 264.8 1/1 21 7 0 7 1.0 intronic rs1641011 ABAT AR NM_000663 exon4 c.12398+134T>A 0.573283 0.7748 Uncertain 16_8842154_A->G 16 8842154 8842154 A G snp 46.77 0/1 33 3 1 2 0.67 intronic rs1731036 ABAT AR NM_000663 exon4 c.12398+160A>G 0.465455 0.5972 Uncertain 16_8844389_C->T 16 8844389 8844389 C T snp 484.77 0/1 99 45 28 17 0.38 exonic rs2229157 ABAT AR synonymous SNV NM_020686 exon5 c.C309T p.V103V 0.104832 0.1756 0.089888 0.1210 0.1805 Uncertain 16_8851767_C->T 16 8851767 8851767 C T snp 1946.77 0/1 99 131 53 78 0.6 intronic rs12930438 ABAT AR NM_000663 exon6 c.22067+104C>T 0.492812 0.5813 Uncertain 16_8858580_T->A 16 8858580 8858580 T A snp 3855.77 1/1 99 138 0 138 1.0 intronic rs2302608 ABAT AR NM_000663 exon8 c.28998-14T>A 0.825879 0.8423 0.859012 0.8985 0.8663 Uncertain 16_8862212_C->T 16 8862212 8862212 C T snp 206.84 1/1 18 7 0 7 1.0 intronic rs8049072 ABAT AR NM_000663 exon10 c.32517+99C>T 0.864217 0.87 Uncertain 16_8862506_C->A 16 8862506 8862506 C A snp 347.78 1/1 27 10 0 10 1.0 intronic rs1273406 ABAT AR NM_000663 exon11 c.33085-175C>A 0.970847 1 Uncertain 16_8862592_T->C 16 8862592 8862592 T C snp 2323.77 1/1 99 78 0 78 1.0 intronic rs1273407 ABAT AR NM_000663 exon11 c.33085-89T>C 1 1 Uncertain 16_8868776_C->A 16 8868776 8868776 C A snp 664.77 0/1 99 48 23 25 0.52 exonic rs1641022 ABAT AR synonymous SNV NM_020686 exon13 c.C984A p.V328V 0.317492 0.4167 0.322610 0.3856 0.3966 Uncertain 16_8890574_G->A 16 8890574 8890574 G A snp 213.77 0/1 99 21 13 8 0.38 intronic rs11642272 TMEM186 AU NM_015421 exon1 c.639+127G>A 0.157947 0.1458 Uncertain 16_8891312_A->- 16 8891312 8891312 A - indel 386.74 1/1 30 10 0 10 1.0 intronic rs34079211 TMEM186 AU NM_015421 exon2 c.1660-156delA 0.91893 0.9802 Uncertain 16_8896094_G->A 16 8896094 8896094 G A snp 3067.77 1/1 99 106 0 106 1.0 intronic rs2304469 PMM2 AR NM_000303 exon2 c.4028+327G>A 0.384185 0.4286 0.4384 0.4077 Uncertain 16_8904877_-->ATG 16 8904877 8904877 - ATG indel 1745.73 1/1 90 30 0 30 1.0 intronic rs1799772 PMM2 AR NM_000303 exon5 c.13196-58insATG 0.834864 0.9583 Uncertain 16_8905054_T->C 16 8905054 8905054 T C snp 1812.77 1/1 99 69 0 69 1.0 intronic rs11074924 PMM2 AR NM_000303 exon5 c.13296+19T>C 0.38119 0.4266 0.437422 0.4654 0.4961 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000078592.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 16_8905182_A->G 16 8905182 8905182 A G snp 174.9 1/1 15 5 0 5 1.0 intronic rs4985041 PMM2 AR NM_000303 exon5 c.13296+147A>G 0.851438 0.9712 Uncertain 16_8907145_G->T 16 8907145 8907145 G T snp 1368.77 1/1 99 38 0 38 1.0 intronic rs9924186 PMM2 AR NM_000303 exon7 c.15224+182G>T 0.828275 0.9712 Uncertain 16_8948974_T->C 16 8948974 8948974 T C snp 2497.77 1/1 99 85 0 85 1.0 UTR3 rs6898 CARHSP1 AU 0.897963 0.9673 0.917193 0.9216 0.9709 Uncertain 16_8952113_C->A 16 8952113 8952113 C A snp 294.78 1/1 24 11 0 11 1.0 intronic rs62033507 CARHSP1 AU NM_014316 exon2 c.3186-93C>A 0.389177 0.4335 Uncertain 16_8952248_A->G 16 8952248 8952248 A G snp 3115.77 1/1 99 122 0 122 1.0 exonic rs988065 CARHSP1 AU synonymous SNV NM_001042476 exon3 c.T240C p.T80T 0.96885 1 0.969370 0.9910 1 Uncertain 16_8953081_C->G 16 8953081 8953081 C G snp 1962.77 1/1 99 71 0 71 1.0 exonic rs8097 CARHSP1 AU synonymous SNV NM_001042476 exon2 c.G105C p.R35R 0.569688 0.6597 0.554803 0.6285 0.6776 Uncertain 16_8989403_A->G 16 8989403 8989403 A G snp 3355.77 1/1 99 124 0 124 1.0 intronic rs1677473 USP7 AU NM_001286457 exon5 c.1644-95A>G 0.986821 1 Uncertain 16_8992342_G->A 16 8992342 8992342 G A snp 2282.77 0/1 99 248 150 98 0.4 intronic rs2304465 USP7 AU NM_001286457 exon8 c.4533-45G>A 0.390176 0.2956 0.379446 0.3976 0.2743 Uncertain 16_8992828_G->T 16 8992828 8992828 G T snp 704.77 0/1 99 39 17 22 0.56 intronic rs2289109 USP7 AU NM_001286457 exon9 c.5123-149G>T 0.428914 0.5823 Uncertain 16_8992868_A->C 16 8992868 8992868 A C snp 3103.77 1/1 99 97 1 96 0.99 intronic rs2437724 USP7 AU NM_001286457 exon9 c.5123-109A>C 0.988019 1 Uncertain 16_8992869_C->A 16 8992869 8992869 C A snp 3126.77 1/1 99 99 0 99 1.0 intronic rs2437725 USP7 AU NM_001286457 exon9 c.5123-108C>A 0.986821 1 Uncertain 16_8994563_C->T 16 8994563 8994563 C T snp 756.77 0/1 99 63 27 36 0.57 intronic rs2447919 USP7 AU NM_001286457 exon11 c.6633+76C>T 0.261981 0.254 Uncertain 16_8995927_G->A 16 8995927 8995927 G A snp 915.77 0/1 99 66 29 37 0.56 intronic rs2304466 USP7 AU NM_001286457 exon14 c.8084-11G>A 0.423922 0.6339 0.410805 0.5004 0.6525 Uncertain 16_8996377_C->T 16 8996377 8996377 C T snp 152.77 0/1 99 16 9 7 0.44 intronic rs2447918 USP7 AU NM_001286457 exon15 c.8485+38C>T 0.341653 0.2569 0.347575 0.3790 0.2517 Uncertain 16_8998571_G->C 16 8998571 8998571 G C snp 81.77 0/1 99 14 8 6 0.43 intronic rs2437727 USP7 AU NM_001286457 exon17 c.10568+149G>C 0.28734 0.3085 Uncertain 16_9004564_C->A 16 9004564 9004564 C A snp 6537.77 1/1 99 225 0 225 1.0 intronic rs2447916 USP7 AU NM_001286457 exon21 c.16747-37C>A 0.98722 1 0.987764 0.9963 1 Uncertain 16_9010213_T->G 16 9010213 9010213 T G snp 158.77 0/1 99 8 3 5 0.63 intronic rs7195624 USP7 AU NM_001286457 exon24 c.22504-145T>G 0.628395 0.6458 Uncertain 16_9010261_TTTTCTGAATTAGGTC->- 16 9010261 9010276 TTTTCTGAATTAGGTC - indel 2199.73 0/1 99 24 12 12 0.5 intronic rs138207509 USP7 AU NM_001286457 exon24 c.22504-97_22504-82delTTTTCTGAATTAGGTC 0.321685 0.2976 Uncertain 16_9010446_-->C 16 9010446 9010446 - C indel 3568.73 1/1 99 81 0 81 1.0 intronic rs57510291 USP7 AU NM_001286457 exon24 c.22559+33insC 0.976038 1 0.9932 1 Uncertain 16_9014350_T->C 16 9014350 9014350 T C snp 1626.77 1/1 99 55 0 55 1.0 intronic rs1677470 USP7 AU NM_001286457 exon27 c.26450+46T>C 0.98722 1 0.987993 0.9962 1 Uncertain 16_9014385_G->A 16 9014385 9014385 G A snp 451.77 0/1 99 33 15 18 0.55 intronic rs7189170 USP7 AU NM_001286457 exon27 c.26450+81G>A 0.576478 0.631 Uncertain 16_9014434_T->G 16 9014434 9014434 T G snp 172.9 1/1 15 5 0 5 1.0 intronic rs2447912 USP7 AU NM_001286457 exon27 c.26450+130T>G 0.987021 1 Uncertain 16_9015252_A->T 16 9015252 9015252 A T snp 1558.77 1/1 99 51 0 51 1.0 intronic rs30761 USP7 AU NM_001286457 exon28 c.27298+100A>T 0.987021 1 Uncertain 16_9015258_T->C 16 9015258 9015258 T C snp 468.77 0/1 99 46 29 17 0.37 intronic rs9940652 USP7 AU NM_001286457 exon28 c.27298+106T>C 0.604233 0.6815 Uncertain 16_9017061_-->ACAACGATGTGGGGGTTTGTAGTTGCATCATTTAA 16 9017061 9017061 - ACAACGATGTGGGGGTTTGTAGTTGCATCATTTAA indel 11946.7 1/1 96 32 0 32 1.0 intronic rs139138924 USP7 AU NM_001286457 exon29 c.29217-10insACAACGATGTGGGGGTTTGTAGTTGCATCATTTAA 0.979433 1 0.9942 0.9995 Uncertain 16_9030444_C->G 16 9030444 9030444 C G snp 1994.77 1/1 99 78 0 78 1.0 exonic rs1382390 USP7 AU synonymous SNV NM_001286457 exon1 c.G27C p.L9L 0.977436 0.9901 0.982897 0.9936 0.9877 Uncertain 16_9186735_C->G 16 9186735 9186735 C G snp 95.77 0/1 99 14 10 4 0.29 intronic rs4630540 C16orf72 AU NM_014117 exon2 c.876-42C>G 0.506789 0.369 0.512868 0.4557 0.4297 Uncertain 16_9210373_A->T 16 9210373 9210373 A T snp 59.77 0/1 88 15 11 4 0.27 intronic rs8045589 C16orf72 AU NM_014117 exon4 c.24623-151A>T 0.552516 0.2877 Uncertain 16_10524657_GAC->- 16 10524657 10524659 GAC - indel 7491.73 1/1 99 143 0 143 1.0 exonic rs113642662 ATF7IP2 AU nonframeshift deletion NM_024997 exon3 c.180_182del p.60_61del 0.603235 0.6994 0.589217 0.5974 0.6759 Uncertain 16_10532211_A->C 16 10532211 10532211 A C snp 337.78 1/1 27 11 0 11 1.0 intronic rs1532824 ATF7IP2 AU NM_024997 exon5 c.7615+119A>C 0.79393 0.8571 Uncertain 16_10566146_G->T 16 10566146 10566146 G T snp 319.78 1/1 24 12 0 12 1.0 intronic rs4453490 ATF7IP2 AU NM_024997 exon8 c.41563+106G>T 0.832668 0.8571 Uncertain 16_10574829_A->T 16 10574829 10574829 A T snp 5653.77 1/1 99 210 0 210 1.0 intronic rs12596111 ATF7IP2 AU NM_024997 exon11 c.50344+8A>T 0.458466 0.5724 0.458442 0.5050 0.5578 Uncertain 16_10575824_C->A 16 10575824 10575824 C A snp 2655.77 1/1 99 100 0 100 1.0 exonic rs1970817 ATF7IP2 AU synonymous SNV NM_024997 exon12 c.C1767A p.P589P 0.466054 0.5704 0.457288 0.5083 0.5536 Uncertain 16_10625606_ATGAATGA->- 16 10625606 10625613 ATGAATGA - indel 994.73 0/1 99 22 11 11 0.5 UTR3 rs149380057 EMP2 AR Uncertain 16_10625887_C->T 16 10625887 10625887 C T snp 2435.77 0/1 99 210 103 107 0.51 UTR3 rs7195563 EMP2 AR 0.441494 0.6022 Uncertain 16_10625997_G->A 16 10625997 10625997 G A snp 1609.77 0/1 99 128 67 61 0.48 UTR3 rs7194566 EMP2 AR 0.801318 0.8313 Uncertain 16_10626060_G->- 16 10626060 10626060 G - indel 981.73 0/1 99 91 48 43 0.47 UTR3 rs35914943 EMP2 AR Uncertain 16_10627085_A->G 16 10627085 10627085 A G snp 113.77 0/1 99 7 3 4 0.57 intronic rs4780939 EMP2 AR NM_001424 exon1 c.188+136A>G 0.702875 0.7738 Uncertain 16_10631912_C->T 16 10631912 10631912 C T snp 540.77 0/1 99 48 26 22 0.46 exonic rs2279868 EMP2 AR synonymous SNV NM_001424 exon4 c.G189A p.A63A 0.272165 0.1984 0.227336 0.2239 0.1829 Uncertain 16_10631985_T->C 16 10631985 10631985 T C snp 184.77 0/1 99 13 6 7 0.54 intronic rs1504884 EMP2 AR NM_001424 exon2 c.5170+54T>C 0.823482 0.8313 Uncertain 16_10769958_T->C 16 10769958 10769958 T C snp 7434.77 1/1 99 249 0 249 1.0 exonic rs2719710 TEKT5 AU nonsynonymous SNV NM_144674 exon5 c.A944G p.Q315R 0.634185 0.8135 0.481299 0.5002 0.8252 0.46 T 0.0 P -1.097 T 0.001 T 0.009 T Pathogenic 16_10770075_A->G 16 10770075 10770075 A G snp 3993.77 1/1 99 133 0 133 1.0 intronic rs2719711 TEKT5 AU NM_144674 exon3 c.48599+37A>G 0.66853 0.8135 0.521087 0.5200 0.8239 Uncertain 16_10770091_T->C 16 10770091 10770091 T C snp 3271.77 1/1 99 106 0 106 1.0 intronic rs2719712 TEKT5 AU NM_144674 exon3 c.48599+53T>C 0.633986 0.8135 Uncertain 16_10775855_G->A 16 10775855 10775855 G A snp 1448.77 0/1 99 104 43 61 0.59 exonic rs12918646 TEKT5 AU synonymous SNV NM_144674 exon4 c.C858T p.D286D 0.294728 0.5446 0.181161 0.2586 0.5408 Uncertain 16_10783663_C->T 16 10783663 10783663 C T snp 83.77 0/1 30 4 1 3 0.75 intronic rs1344518 TEKT5 AU NM_144674 exon6 c.62359-135C>T 0.494409 0.6111 Uncertain 16_10788106_A->G 16 10788106 10788106 A G snp 751.77 0/1 99 36 12 24 0.67 intronic rs2251984 TEKT5 AU NM_144674 exon7 c.66727-60A>G 0.589856 0.6121 Uncertain 16_10788129_G->T 16 10788129 10788129 G T snp 941.77 0/1 99 57 24 33 0.58 intronic rs2251985 TEKT5 AU NM_144674 exon7 c.66727-37G>T 0.590455 0.6121 0.576882 0.5576 0.6195 Uncertain 16_10788406_G->T 16 10788406 10788406 G T snp 3148.77 0/1 99 239 106 133 0.56 exonic rs9922129 TEKT5 AU synonymous SNV NM_144674 exon1 c.C325A p.R109R 0.328075 0.5407 0.219332 0.2865 0.5248 Uncertain 16_10840847_C->G 16 10840847 10840847 C G snp 1929.77 1/1 99 58 0 58 1.0 intronic rs4780323 NUBP1 AU NM_002484 exon3 c.3279-152C>G 0.327875 0.5188 Uncertain 16_10850776_C->T 16 10850776 10850776 C T snp 88.28 1/1 9 3 0 3 1.0 intronic rs12931121 NUBP1 AU NM_002484 exon6 c.12917+139C>T 0.329473 0.5188 Uncertain 16_10855341_C->T 16 10855341 10855341 C T snp 653.77 0/1 99 63 35 28 0.44 intronic rs2233539 NUBP1 AU NM_002484 exon8 c.17611+10C>T 0.271765 0.4712 0.199092 0.2750 0.4455 Uncertain 16_10912139_C->T 16 10912139 10912139 C T snp 1004.77 1/1 75 26 0 26 1.0 intronic rs13338873 TVP23A AU NM_001079512 exon7 c.47911+100C>T 0.241014 0.2054 Uncertain 16_10989219_C->G 16 10989219 10989219 C G snp 4674.77 1/1 99 169 0 169 1.0 exonic rs2229317 CIITA AR,AU nonsynonymous SNV NM_000246 exon2 c.C133G p.L45V 0.145168 0.3194 0.030553 0.0966 0.3351 0.05 T 0.0 P -1.008 T 1.0 D 0.998 D Pathogenic 16_10989374_C->T 16 10989374 10989374 C T snp 3043.77 1/1 99 106 0 106 1.0 intronic rs11074937 CIITA AR,AU NM_000246 exon2 c.18098+89C>T 0.949681 1 Uncertain 16_10989754_G->A 16 10989754 10989754 G A snp 808.77 1/1 60 25 0 25 1.0 intronic rs45601437 CIITA AR,AU NM_000246 exon3 c.18434+133G>A 0.135583 0.2817 Uncertain 16_10995850_G->T 16 10995850 10995850 G T snp 624.77 1/1 48 19 0 19 1.0 intronic rs6498124 CIITA AR,AU NM_000246 exon7 c.24707-44G>T 0.410144 0.4544 0.475989 0.4987 0.4280 Uncertain 16_10995933_A->G 16 10995933 10995933 A G snp 3361.77 1/1 99 107 0 107 1.0 exonic rs8046121 CIITA AR,AU nonsynonymous SNV NM_000246 exon7 c.A520G p.R174G 0.98722 1 0.983146 0.9959 1 0.55 T 1.000 P -0.976 T 0.0 T 0.0 T Pathogenic 16_10996332_C->G 16 10996332 10996332 C G snp 139.03 1/1 12 4 0 4 1.0 intronic rs6498125 CIITA AR,AU NM_000246 exon8 c.25327-182C>G 0.48742 0.5417 Uncertain 16_11001743_G->A 16 11001743 11001743 G A snp 1716.77 0/1 99 125 59 66 0.53 exonic rs2229320 CIITA AR,AU synonymous SNV NM_000246 exon11 c.G2394A p.P798P 0.189297 0.3145 0.151161 0.2122 0.3099 Uncertain 16_11002133_C->G 16 11002133 11002133 C G snp 1297.77 1/1 93 41 0 41 1.0 intronic rs4781018 CIITA AR,AU NM_000246 exon11 c.30819+127C>G 0.66254 0.8671 0.7283 0.8730 1 T 0.0 P -0.960 T 0.0 T 0.001 T Uncertain 16_11002904_G->A 16 11002904 11002904 G A snp 3534.77 1/1 99 123 0 123 1.0 exonic rs2228238 CIITA AR,AU synonymous SNV NM_000246 exon12 c.G2676A p.T892T 0.663139 0.8671 0.634678 0.6840 0.8514 Uncertain 16_11002927_A->G 16 11002927 11002927 A G snp 4680.77 1/1 99 168 0 168 1.0 exonic rs7197779 CIITA AR,AU nonsynonymous SNV NM_000246 exon12 c.A2699G p.Q900R 0.928714 1 0.919886 0.9787 1 0.47 T 0.000 P -0.980 T 0.001 T 0.002 T Pathogenic 16_11004150_C->T 16 11004150 11004150 C T snp 2535.77 1/1 99 96 0 96 1.0 intronic rs4781019 CIITA AR,AU NM_000246 exon13 c.32929+34C>T 0.421725 0.3671 0.507619 0.5012 0.3884 Uncertain 16_11004328_G->C 16 11004328 11004328 G C snp 56.74 1/1 6 2 0 2 1.0 intronic rs4780335 CIITA AR,AU NM_000246 exon13 c.32929+212G>C 0.410743 0.3542 Uncertain 16_11009587_C->A 16 11009587 11009587 C A snp 1048.77 0/1 99 82 42 40 0.49 intronic rs7500869 CIITA AR,AU NM_000246 exon14 c.38320+80C>A 0.20627 0.3155 Uncertain 16_11010150_G->T 16 11010150 11010150 G T snp 609.77 0/1 99 49 27 22 0.45 intronic rs6498130 CIITA AR,AU NM_000246 exon15 c.39036-73G>T 0.36242 0.2292 Uncertain 16_11012169_A->G 16 11012169 11012169 A G snp 834.77 0/1 99 61 31 30 0.49 intronic rs12931898 CIITA AR,AU NM_000246 exon16 c.41109-127A>G 0.189497 0.3155 Uncertain 16_11015906_A->G 16 11015906 11015906 A G snp 1849.77 1/1 99 58 0 58 1.0 intronic rs6498134 CIITA AR,AU NM_000246 exon17 c.44836-117A>G 0.967452 1 Uncertain 16_11250413_C->A 16 11250413 11250413 C A snp 532.77 0/1 99 50 29 21 0.42 intronic rs7189563 CLEC16A AU NM_015226 exon22 c.221670-9831C>A 0.644569 0.4395 0.6903 0.4295 Uncertain 16_11349403_A->C 16 11349403 11349403 A C snp 992.77 1/1 72 33 0 33 1.0 intronic rs27829 SOCS1 AU NM_003745 exon1 c.686+18A>C 0.978634 1 Uncertain 16_11350059_T->C 16 11350059 11350059 T C snp 713.77 1/1 54 26 0 26 1.0 upstream rs27831 SOCS1 AU 0.978634 1 Uncertain 16_11362554_T->C 16 11362554 11362554 T C snp 52.74 1/1 6 2 0 2 1.0 intronic rs181695 TNP2 AU NM_005425 exon2 c.867-165T>C 0.977236 1 Uncertain 16_11367143_G->A 16 11367143 11367143 G A snp 1763.77 1/1 99 62 0 62 1.0 exonic rs438289 PRM3 AU stopgain NM_021247 exon1 c.C310T p.R104X 0.956669 1 0.958965 0.9782 1 Pathogenic 16_11367477_G->A 16 11367477 11367477 G A snp 478.77 1/1 36 13 0 13 1.0 upstream rs2301127 PRM3 AU 0.593251 0.8294 0.475734 0.5723 0.8267 Uncertain 16_11369855_G->T 16 11369855 11369855 G T snp 3085.77 1/1 99 120 0 120 1.0 intronic rs2070923 PRM2 AU NM_001286356 exon1 c.152+17G>T 0.449081 0.6815 0.266316 0.4075 0.6974 Uncertain 16_11444403_T->C 16 11444403 11444403 T C snp 453.77 1/1 36 16 0 16 1.0 intronic rs2032929 RMI2 AU NM_152308 exon2 c.5170-95T>C 0.886382 0.9504 Uncertain 16_11444430_T->G 16 11444430 11444430 T G snp 680.77 1/1 51 23 0 23 1.0 intronic rs2032930 RMI2 AU NM_152308 exon2 c.5170-68T>G 0.887181 0.9534 Uncertain 16_11444455_A->- 16 11444455 11444455 A - indel 847.73 1/1 90 32 0 32 1.0 intronic rs57767216 RMI2 AU NM_152308 exon2 c.5170-43delA 0.9873 0.9918 Uncertain 16_11444469_C->T 16 11444469 11444469 C T snp 1075.77 1/1 78 41 0 41 1.0 intronic rs2032931 RMI2 AU NM_152308 exon2 c.5170-29C>T 0.873602 0.9494 0.815166 0.8426 0.9463 Uncertain 16_11444716_A->G 16 11444716 11444716 A G snp 420.77 1/1 33 14 0 14 1.0 UTR3 rs2032932 RMI2 AU 0.360024 0.6607 Uncertain 16_11537347_-->GAGAGAGAG 16 11537347 11537347 - GAGAGAGAG indel 1473.76 0/1 22 26 5 21 0.81 intergenic RMI2 AU Uncertain 16_11540596_A->C 16 11540596 11540596 A C snp 1894.77 0/1 99 161 83 78 0.48 intergenic rs4359463 RMI2 AU 0.545327 0.4206 0.5806 0.4510 Uncertain 16_11540712_T->C 16 11540712 11540712 T C snp 898.77 0/1 99 86 47 39 0.45 intergenic rs4500747 RMI2 AU 0.765176 0.6845 0.8251 0.75 Uncertain 16_11541685_A->G 16 11541685 11541685 A G snp 712.77 0/1 99 50 23 27 0.54 intergenic rs4296278 RMI2 AU 0.765375 0.6855 Uncertain 16_11541896_G->A 16 11541896 11541896 G A snp 1597.77 0/1 99 131 66 65 0.5 intergenic rs4238608 RMI2 AU 0.762979 0.6855 0.8209 0.755 0.23 T 0.0 P -0.987 T Uncertain 16_11542006_A->G 16 11542006 11542006 A G snp 146.77 0/1 99 12 7 5 0.42 intergenic rs4238609 RMI2 AU 0.763179 0.6855 Uncertain 16_11542719_A->G 16 11542719 11542719 A G snp 65.77 0/1 94 10 7 3 0.3 intergenic rs4303500 RMI2 AU 0.787141 0.6845 Uncertain 16_11544741_G->A 16 11544741 11544741 G A snp 920.77 1/1 66 34 0 34 1.0 intergenic rs6498192 RMI2 AU 0.766174 0.7034 Uncertain 16_11544759_A->T 16 11544759 11544759 A T snp 300.77 0/1 99 29 15 14 0.48 intergenic rs6498193 RMI2 AU 0.286741 0.3016 Uncertain 16_11544824_G->A 16 11544824 11544824 G A snp 390.77 1/1 30 12 0 12 1.0 intergenic rs6498194 RMI2 AU 0.771565 0.7034 Uncertain 16_11550619_G->A 16 11550619 11550619 G A snp 212.77 0/1 99 16 9 7 0.44 intergenic rs72777209 RMI2 AU 0.263379 0.2312 Uncertain 16_11553883_C->G 16 11553883 11553883 C G snp 2060.77 0/1 99 131 43 88 0.67 intergenic rs35839588 RMI2 AU 0.255591 0.2321 0.3630 0.2769 0.02 T 0.0 P -0.931 T Uncertain 16_11554301_C->G 16 11554301 11554301 C G snp 3527.77 0/1 99 249 112 137 0.55 intergenic rs72777212 RMI2 AU 0.260982 0.2331 0.3282 0.2191 Uncertain 16_11554737_C->T 16 11554737 11554737 C T snp 183.77 0/1 99 18 11 7 0.39 intergenic rs8046254 RMI2 AU 0.644569 0.3383 Uncertain 16_11555016_C->G 16 11555016 11555016 C G snp 761.77 0/1 99 72 37 35 0.49 intergenic rs6498202 RMI2 AU 0.604034 0.3373 0.6972 0.3587 Uncertain 16_11555861_G->C 16 11555861 11555861 G C snp 837.77 0/1 99 66 37 29 0.44 intergenic rs4781101 RMI2 AU 0.260982 0.2321 Uncertain 16_11556121_A->G 16 11556121 11556121 A G snp 653.77 0/1 99 49 23 26 0.53 intergenic rs4254342 RMI2 AU 0.65016 0.3393 0.7188 0.3617 Uncertain 16_11643631_G->A 16 11643631 11643631 G A snp 1553.77 0/1 99 110 44 66 0.6 intronic rs9935945 LITAF AD NM_004862 exon1 c.109+30G>A 0.167732 0.0933 0.199507 0.1915 0.1464 Uncertain 16_11645777_T->- 16 11645777 11645777 T - indel 175.73 0/1 99 32 16 16 0.5 intronic rs35493477 LITAF AD NM_001136473 exon2 c.82+117delT 0.457268 0.4792 Uncertain 16_11650325_G->A 16 11650325 11650325 G A snp 900.77 0/1 99 103 63 40 0.39 intronic rs3743582 LITAF AD NM_004862 exon3 c.6874-41G>A 0.510184 0.6012 0.436586 0.5929 0.6772 Uncertain 16_11690308_-->GAGGAGGAG 16 11690308 11690308 - GAGGAGGAG indel 850.73 0/1 99 25 8 17 0.68 intergenic rs113749419 LITAF AD 0.454872 0.5427 Uncertain 16_11769894_G->A 16 11769894 11769894 G A snp 1074.77 0/1 99 82 35 47 0.57 UTR5 rs200151752 SNN AU 0.000399361 0.0012 0 Uncertain 16_11773662_C->G 16 11773662 11773662 C G snp 776.77 0/1 99 49 23 26 0.53 exonic rs3190321 TXNDC11 AU nonsynonymous SNV NM_015914 exon12 c.G2266C p.V756L 0.451877 0.4345 0.506003 0.5081 0.4226 0.86 T 0.0 P -0.960 T 0.0 T 0.001 T Pathogenic 16_11773733_C->G 16 11773733 11773733 C G snp 109.77 0/1 99 13 8 5 0.38 intronic rs8191352 TXNDC11 AU NM_001303447 exon1 c.643+40C>G 0.0754792 0.1786 0.046515 0.0733 0.1650 Uncertain 16_11773743_G->T 16 11773743 11773743 G T snp 74.77 0/1 99 11 7 4 0.36 intronic rs7188511 TXNDC11 AU NM_001303447 exon1 c.643+50G>T 0.45008 0.4286 0.508996 0.5003 0.4139 Uncertain 16_11797366_ACAC->- 16 11797366 11797369 ACAC - indel 497.73 0/1 99 19 6 13 0.68 intronic rs147693005 TXNDC11 AU NM_001303447 exon8 c.24475-159_24475-156delACAC Uncertain 16_11828018_A->G 16 11828018 11828018 A G snp 710.77 1/1 54 27 2 25 0.93 intronic rs4780398 TXNDC11 AU NM_001303447 exon11 c.54885+83A>G 0.872804 0.9534 Uncertain 16_11836398_C->G 16 11836398 11836398 C G snp 325.77 0/1 99 44 28 16 0.36 exonic rs3743587 TXNDC11 AU synonymous SNV NM_001303447 exon1 c.G189C p.P63P 0.416534 0.5169 0.4756 0.5370 Uncertain 16_11836508_G->A 16 11836508 11836508 G A snp 652.77 0/1 99 67 32 35 0.52 exonic rs3743588 TXNDC11 AU nonsynonymous SNV NM_001303447 exon1 c.C79T p.P27S 0.26278 0.4127 0.158190 0.3884 0.5415 0.64 T 0.618 P -0.909 T 0.007 T 0.004 T Pathogenic 16_11846508_T->G 16 11846508 11846508 T G snp 1257.77 0/1 99 138 83 55 0.4 intronic rs2303822 ZC3H7A AU NM_014153 exon2 c.1352-16T>G 0.228035 0.1627 0.196398 0.1312 0.1424 Uncertain 16_11850003_A->G 16 11850003 11850003 A G snp 2142.77 1/1 99 70 0 70 1.0 intronic rs7198247 ZC3H7A AU NM_014153 exon3 c.4920-89A>G 0.757588 0.8591 Uncertain 16_11852354_A->C 16 11852354 11852354 A C snp 4758.77 1/1 99 173 0 173 1.0 exonic rs8743 ZC3H7A AU synonymous SNV NM_014153 exon20 c.T2361G p.V787V 0.533147 0.5863 0.479606 0.4474 0.6063 Uncertain 16_11857532_G->A 16 11857532 11857532 G A snp 779.77 0/1 99 68 40 28 0.41 intronic rs13338039 ZC3H7A AU NM_014153 exon8 c.12343+17G>A 0.222244 0.1587 0.185470 0.1210 0.1387 Uncertain 16_11859341_A->G 16 11859341 11859341 A G snp 3157.77 1/1 99 117 0 117 1.0 splicing rs7199993 ZC3H7A AU NM_014153 exon10 c.14172-3A>G 0.74381 0.8601 0.628233 0.6130 0.8464 Pathogenic 16_11861199_-->T 16 11861199 11861199 - T indel 174.87 1/1 15 5 0 5 1.0 intronic rs397809363 ZC3H7A AU NM_014153 exon11 c.16100-73insT 0.746805 0.8611 Uncertain 16_11862376_-->A 16 11862376 11862376 - A indel 165 1/1 12 23 1 22 0.96 intronic rs34038330 ZC3H7A AU NM_014153 exon12 c.17185+19insA 0.547324 0.6012 0.4179 0.4833 Uncertain 16_11870494_T->A 16 11870494 11870494 T A snp 886.77 1/1 66 23 0 23 1.0 intronic rs8054729 ZC3H7A AU NM_014153 exon18 c.25216+106T>A 0.779952 0.8938 Uncertain 16_11933678_G->C 16 11933678 11933678 G C snp 2707.77 0/1 99 242 120 122 0.5 exonic rs2075160 RSL1D1 AU synonymous SNV NM_015659 exon8 c.C1020G p.T340T 0.120208 0.1677 0.063414 0.0790 0.1800 Uncertain 16_11940390_T->C 16 11940390 11940390 T C snp 598.77 0/1 99 61 38 23 0.38 exonic rs8052900 RSL1D1 AU synonymous SNV NM_015659 exon5 c.A603G p.T201T 0.703474 0.4355 0.754117 0.6791 0.4195 Uncertain 16_11945161_G->T 16 11945161 11945161 G T snp 556.77 0/1 99 59 33 26 0.44 intronic rs78278399 RSL1D1 AU NM_015659 exon9 c.13621-103G>T 0.108027 0.1627 Uncertain 16_11945162_C->T 16 11945162 11945162 C T snp 589.77 0/1 99 61 34 27 0.44 intronic rs79215987 RSL1D1 AU NM_015659 exon9 c.13621-102C>T 0.108227 0.1627 Uncertain 16_11945231_T->C 16 11945231 11945231 T C snp 1050.77 0/1 99 128 76 52 0.41 intronic rs2075158 RSL1D1 AU NM_015659 exon9 c.13621-33T>C 0.642772 0.4385 0.698553 0.6637 0.4224 Uncertain 16_11969724_G->C 16 11969724 11969724 G C snp 6503.77 1/1 99 247 0 247 1.0 exonic rs33657 GSPT1 AU synonymous SNV NM_002094 exon14 c.C1755G p.V585V 0.650958 0.7917 0.498371 0.5030 0.8230 Uncertain 16_11970223_A->C 16 11970223 11970223 A C snp 176.9 1/1 15 5 0 5 1.0 intronic rs33656 GSPT1 AU NM_001130006 exon3 c.3057+191A>C 0.985024 1 Uncertain 16_11976770_C->T 16 11976770 11976770 C T snp 98.77 0/1 99 17 12 5 0.29 intronic rs8062768 GSPT1 AU NM_001130006 exon5 c.9896-101C>T 0.129393 0.1667 Uncertain 16_11981763_T->G 16 11981763 11981763 T G snp 80.77 0/1 69 5 2 3 0.6 intronic rs9933193 GSPT1 AU NM_001130006 exon9 c.14632+156T>G 0.131989 0.1786 Uncertain 16_11990323_C->G 16 11990323 11990323 C G snp 218.84 1/1 18 6 0 6 1.0 intronic rs33636 GSPT1 AU NM_001130006 exon12 c.23439-91C>G 0.683107 0.7927 Uncertain 16_11991944_C->T 16 11991944 11991944 C T snp 318.77 0/1 96 15 5 10 0.67 intronic rs33635 GSPT1 AU NM_001130006 exon14 c.24917+52C>T 0.352236 0.5585 Uncertain 16_12008941_T->G 16 12008941 12008941 T G snp 4328.77 1/1 99 144 0 144 1.0 intronic rs33619 GSPT1 AU NM_001130006 exon15 c.42250-284T>G 0.548123 0.746 Uncertain 16_12009277_C->A 16 12009277 12009277 C A snp 1692.77 0/1 99 124 49 75 0.6 exonic rs185937624 GSPT1 AU nonsynonymous SNV NM_002094 exon1 c.G301T p.G101C 0.128994 0.1657 0.1475 0.3541 0.02 T 1.0 P -1.058 T 0.511 P 0.19 P ID=COSM3420751;OCCURENCE=1(large_intestine) Pathogenic 16_12009279_A->G 16 12009279 12009279 A G snp 3401.77 1/1 99 128 0 128 1.0 exonic rs424518 GSPT1 AU nonsynonymous SNV NM_002094 exon1 c.T299C p.V100A 0.985024 1 0.989329 0.9956 0.9980 1 T 0.000 P -0.984 T 0.0 T 0.0 T Pathogenic 16_12009530_-->CCG 16 12009530 12009530 - CCG indel 807.73 0/1 99 52 15 37 0.71 exonic rs71408216 GSPT1 AU nonframeshift insertion NM_002094 exon1 c.47_48insCGG p.G16delinsGG 0.1964 0.1667 Uncertain 16_12009614_G->A 16 12009614 12009614 G A snp 1859.77 1/1 99 67 0 67 1.0 UTR5 rs435108 GSPT1 AU 0.84984 0.9514 0.916609 0.9035 0.9390 Uncertain 16_12009781_G->A 16 12009781 12009781 G A snp 3621.77 1/1 99 134 0 134 1.0 UTR5 rs434762 GSPT1 AU 0.849641 0.9514 0.901605 0.9080 0.9476 Uncertain 16_12021332_G->A 16 12021332 12021332 G A snp 977.77 0/1 99 69 24 45 0.65 intergenic rs256390 GSPT1 AU 0.56869 0.6111 0.7723 0.7522 Uncertain 16_12021346_C->T 16 12021346 12021346 C T snp 168.77 0/1 99 74 61 13 0.18 intergenic rs116375279 GSPT1 AU 2.999e-05 0 0 D -0.997 T Uncertain 16_12021353_G->C 16 12021353 12021353 G C snp 95.77 0/1 99 73 61 12 0.16 intergenic GSPT1 AU Uncertain 16_12021356_C->T 16 12021356 12021356 C T snp 92.77 0/1 99 72 61 11 0.15 intergenic GSPT1 AU Uncertain 16_12021361_G->A 16 12021361 12021361 G A snp 43.77 0/1 72 71 61 10 0.14 intergenic GSPT1 AU 0.0002 0 0 D -0.763 T ID=COSM1588229,COSM1588230;OCCURENCE=1(lung),1(endometrium) Uncertain 16_12021486_G->A 16 12021486 12021486 G A snp 266.77 0/1 99 21 9 12 0.57 intergenic rs145980981 GSPT1 AU 0.107428 0.1687 0.0761 0.1553 0 D -1.032 T Uncertain 16_12031390_C->T 16 12031390 12031390 C T snp 2747.77 1/1 99 104 0 104 1.0 intergenic rs677507 GSPT1 AU 0.970847 1 0.9918 1 Uncertain 16_12031448_T->C 16 12031448 12031448 T C snp 2967.77 1/1 99 113 0 113 1.0 intergenic rs636664 GSPT1 AU 0.971246 1 0.9919 0.9999 Uncertain 16_12059032_A->G 16 12059032 12059032 A G snp 606.77 0/1 99 27 9 18 0.67 UTR5 rs3743591 TNFRSF17 AU 0.140575 0.1716 Uncertain 16_12059937_T->C 16 12059937 12059937 T C snp 32.77 0/1 61 7 5 2 0.29 intronic rs3916675 TNFRSF17 AU NM_001192 exon2 c.870-114T>C 0.140775 0.1706 Uncertain 16_12060163_A->G 16 12060163 12060163 A G snp 4379.77 1/1 99 165 1 164 0.99 exonic rs373496 TNFRSF17 AU nonsynonymous SNV NM_001192 exon2 c.A242G p.N81S 0.961262 1 0.958135 0.9792 0.9995 1 T 0.001 P -0.975 T 0.0 T 0.001 T Pathogenic 16_12061626_G->A 16 12061626 12061626 G A snp 1110.77 0/1 99 104 54 50 0.48 exonic rs2017662 TNFRSF17 AU synonymous SNV NM_001192 exon3 c.G477A p.T159T 0.139776 0.1677 0.106742 0.1021 0.1559 Uncertain 16_12061674_G->A 16 12061674 12061674 G A snp 713.77 0/1 99 69 39 30 0.43 exonic rs2071336 TNFRSF17 AU synonymous SNV NM_001192 exon3 c.G525A p.T175T 0.0593051 0.0625 0.043559 0.0606 0.0732 Uncertain 16_12136954_A->C 16 12136954 12136954 A C snp 611.77 0/1 99 62 31 31 0.5 intronic rs1703492 SNX29 AU NM_032167 exon5 c.66271+20A>C 0.645567 0.5427 0.737993 0.6376 0.5105 Uncertain 16_12162969_A->G 16 12162969 12162969 A G snp 1701.77 0/1 99 129 60 69 0.53 exonic rs1641843 SNX29 AU synonymous SNV NM_032167 exon10 c.A1299G p.P433P 0.609026 0.5258 0.512709 0.4809 0.5202 Uncertain 16_12172873_C->A 16 12172873 12172873 C A snp 40.77 0/1 69 6 3 3 0.5 intronic rs4352067 SNX29 AU NM_032167 exon11 c.102109+101C>A 0.2498 0.2619 Uncertain 16_12183686_C->T 16 12183686 12183686 C T snp 1340.77 0/1 99 102 43 59 0.58 intronic rs350229 SNX29 AU NM_032167 exon11 c.102109+10914C>T 0.176917 0.2361 0.2561 0.3154 0 D 0.0 P -1.024 T Uncertain 16_12229416_G->A 16 12229416 12229416 G A snp 1547.77 0/1 99 115 52 63 0.55 intronic rs74790544 SNX29 AU NM_032167 exon13 c.152952+5801G>A 0.066893 0.1736 0.0305 0.0909 Uncertain 16_12296803_G->T 16 12296803 12296803 G T snp 4205.77 1/1 99 135 0 135 1.0 intronic rs1701115 SNX29 AU NM_032167 exon14 c.222877+3263G>T 0.85623 1 Uncertain 16_12297160_T->C 16 12297160 12297160 T C snp 951.77 0/1 99 224 166 58 0.26 intronic rs77940121 SNX29 AU NM_032167 exon14 c.222877+3620T>C Uncertain 16_12297186_C->T 16 12297186 12297186 C T snp 1574.77 0/1 99 242 160 82 0.34 intronic rs7187644 SNX29 AU NM_032167 exon14 c.222877+3646C>T Uncertain 16_12297195_G->A 16 12297195 12297195 G A snp 1228.77 0/1 99 239 177 62 0.26 intronic rs76017374 SNX29 AU NM_032167 exon14 c.222877+3655G>A Uncertain 16_12297201_C->G 16 12297201 12297201 C G snp 1311.77 0/1 99 240 171 69 0.29 intronic rs68145755 SNX29 AU NM_032167 exon14 c.222877+3661C>G Uncertain 16_12297234_A->G 16 12297234 12297234 A G snp 2090.77 0/1 99 243 147 96 0.4 intronic rs76402650 SNX29 AU NM_032167 exon14 c.222877+3694A>G Uncertain 16_12297247_A->G 16 12297247 12297247 A G snp 2440.77 0/1 99 244 141 103 0.42 intronic rs7188380 SNX29 AU NM_032167 exon14 c.222877+3707A>G Uncertain 16_12297313_T->A 16 12297313 12297313 T A snp 1848.77 0/1 99 247 145 102 0.41 intronic rs1704128 SNX29 AU NM_032167 exon14 c.222877+3773T>A Uncertain 16_12297352_C->T 16 12297352 12297352 C T snp 1422.77 0/1 99 248 170 78 0.31 intronic rs201719280 SNX29 AU NM_032167 exon14 c.222877+3812C>T 0.0061901 0.0308 Uncertain 16_12297353_G->A 16 12297353 12297353 G A snp 927.77 0/1 99 244 173 71 0.29 intronic rs1701114 SNX29 AU NM_032167 exon14 c.222877+3813G>A Uncertain 16_12297354_T->G 16 12297354 12297354 T G snp 1142.77 0/1 99 245 168 77 0.31 intronic rs80262413 SNX29 AU NM_032167 exon14 c.222877+3814T>G Uncertain 16_12297375_G->A 16 12297375 12297375 G A snp 227.77 0/1 99 234 196 38 0.16 intronic rs77939919 SNX29 AU NM_032167 exon14 c.222877+3835G>A Uncertain 16_12297378_T->C 16 12297378 12297378 T C snp 267.77 0/1 99 234 193 41 0.18 intronic rs74478730 SNX29 AU NM_032167 exon14 c.222877+3838T>C Uncertain 16_12297379_C->T 16 12297379 12297379 C T snp 406.77 0/1 99 235 170 65 0.28 intronic rs75464369 SNX29 AU NM_032167 exon14 c.222877+3839C>T Uncertain 16_12297381_C->G 16 12297381 12297381 C G snp 264.77 0/1 99 235 193 42 0.18 intronic rs74430257 SNX29 AU NM_032167 exon14 c.222877+3841C>G Uncertain 16_12297388_T->G 16 12297388 12297388 T G snp 283.77 0/1 99 247 195 52 0.21 intronic rs12927412 SNX29 AU NM_032167 exon14 c.222877+3848T>G Uncertain 16_12297562_G->A 16 12297562 12297562 G A snp 2019.77 1/1 99 69 0 69 1.0 intronic rs1701113 SNX29 AU NM_032167 exon14 c.222877+4022G>A 0.998003 1 Uncertain 16_12449855_T->C 16 12449855 12449855 T C snp 138.77 0/1 99 14 9 5 0.36 intronic rs7190509 SNX29 AU NM_032167 exon16 c.379356-164T>C 0.462859 0.4087 Uncertain 16_12449925_C->G 16 12449925 12449925 C G snp 597.77 0/1 99 74 49 25 0.34 intronic rs11075062 SNX29 AU NM_032167 exon16 c.379356-94C>G 0.280751 0.2569 Uncertain 16_12450163_C->G 16 12450163 12450163 C G snp 493.77 0/1 99 28 11 17 0.61 intronic rs4781211 SNX29 AU NM_032167 exon16 c.379473+27C>G 0.28095 0.2579 0.425273 0.4785 0.3620 Uncertain 16_12497316_C->T 16 12497316 12497316 C T snp 942.77 0/1 99 98 58 40 0.41 exonic rs751174952 SNX29 AU nonsynonymous SNV NM_032167 exon18 c.C1967T p.A656V 1.547e-05 0 0.04 T 0.871 N -0.984 T Pathogenic 16_12497575_T->C 16 12497575 12497575 T C snp 174.9 1/1 15 6 0 6 1.0 intronic rs12924360 SNX29 AU NM_032167 exon18 c.426723+189T>C 0.412141 0.4117 Uncertain 16_12536703_A->G 16 12536703 12536703 A G snp 183.77 0/1 99 18 11 7 0.39 intronic rs11075077 SNX29 AU NM_032167 exon19 c.500912-34872A>G 0.745008 0.6012 Uncertain 16_12536958_G->A 16 12536958 12536958 G A snp 565.77 0/1 99 59 33 26 0.44 intronic rs34889591 SNX29 AU NM_032167 exon19 c.500912-34617G>A 0.294129 0.2242 Uncertain 16_12621157_A->C 16 12621157 12621157 A C snp 478.77 0/1 99 48 26 22 0.46 intronic rs762792 SNX29 AU NM_032167 exon20 c.548035+2459A>C 0.0796725 0.0913 0.0416 0.0808 0 D 0.0 P -0.960 T Uncertain 16_12662270_C->T 16 12662270 12662270 C T snp 1791.77 0/1 99 111 41 70 0.63 intronic rs77085728 SNX29 AU NM_032167 exon21 c.591699-92C>T 0.061901 0.1369 Uncertain 16_12662328_C->G 16 12662328 12662328 C G snp 1766.77 0/1 99 243 161 82 0.34 intronic rs2288422 SNX29 AU NM_032167 exon21 c.591699-34C>G 0.307708 0.4514 0.245429 0.2521 0.4381 Uncertain 16_12662420_C->T 16 12662420 12662420 C T snp 1795.77 0/1 99 247 155 92 0.37 exonic rs2288423 SNX29 AU synonymous SNV NM_032167 exon21 c.C2376T p.F792F 0.326278 0.4524 0.258660 0.2575 0.4419 Uncertain 16_12662586_A->C 16 12662586 12662586 A C snp 228.77 0/1 99 26 16 10 0.38 UTR3 rs1075844 SNX29 AU 0.325879 0.4494 Uncertain 16_12662587_C->A 16 12662587 12662587 C A snp 188.77 0/1 99 25 16 9 0.36 UTR3 rs890897 SNX29 AU 0.327676 0.4524 Uncertain 16_12758966_T->C 16 12758966 12758966 T C snp 4270.77 1/1 99 171 2 169 0.99 exonic rs1713480 CPPED1 AU nonsynonymous SNV NM_001099455 exon3 c.A296G p.K99R 0.730232 0.5367 0.885234 0.8551 0.5519 0.44 T 1.000 P -0.990 T 0.045 T 0.02 T Pathogenic 16_12759027_A->G 16 12759027 12759027 A G snp 1937.77 1/1 99 64 0 64 1.0 intronic rs1713479 CPPED1 AU NM_018340 exon1 c.230+55A>G 0.810703 0.5873 Uncertain 16_12996642_A->G 16 12996642 12996642 A G snp 94.28 1/1 9 3 0 3 1.0 intronic rs3848239 SHISA9 AU NM_001145205 exon1 c.563+158A>G 0.535144 0.7123 Uncertain 16_13002359_T->C 16 13002359 13002359 T C snp 4436.77 1/1 99 163 0 163 1.0 exonic rs9938751 SHISA9 AU nonsynonymous SNV NM_001145205 exon2 c.T587C p.M196T 0.854633 1 0.802891 0.8768 1 0.14 T 0.0 P -1.041 T 0.0 T 0.0 T Pathogenic 16_14013993_T->A 16 14013993 14013993 T A snp 694.77 0/1 99 64 36 28 0.44 upstream rs1799797 ERCC4 AU,AR 0.220447 0.2659 0.233136 0.2439 0.2469 Uncertain 16_14014240_G->A 16 14014240 14014240 G A snp 406.77 0/1 99 35 17 18 0.51 intronic rs762521 ERCC4 AU,AR NM_005236 exon1 c.207+11G>A 0.220248 0.2659 0.231359 0.3330 0.3674 Uncertain 16_14026007_G->A 16 14026007 14026007 G A snp 1140.77 1/1 81 44 0 44 1.0 intronic rs254942 ERCC4 AU,AR NM_005236 exon6 c.11991-6G>A 0.946486 0.7847 0.984608 0.9661 0.7878 Uncertain 16_14026951_G->T 16 14026951 14026951 G T snp 439.77 0/1 99 44 24 20 0.45 intronic rs3136130 ERCC4 AU,AR NM_005236 exon6 c.12120+809G>T 0.345447 0.2589 0.2965 0.25 Uncertain 16_14031520_G->A 16 14031520 14031520 G A snp 139.03 1/1 12 4 0 4 1.0 intronic rs31869 ERCC4 AU,AR NM_005236 exon9 c.17600-102G>A 0.992612 0.9633 Uncertain 16_14038545_T->C 16 14038545 14038545 T C snp 1048.77 0/1 99 90 44 46 0.51 intronic rs1799799 ERCC4 AU,AR NM_005236 exon10 c.24557-34T>C 0.338059 0.2609 0.380483 0.3237 0.2350 Uncertain 16_14038552_G->A 16 14038552 14038552 G A snp 1176.77 0/1 99 98 47 51 0.52 intronic rs1799800 ERCC4 AU,AR NM_005236 exon10 c.24557-27G>A 0.212061 0.25 0.239033 0.2448 0.2308 Uncertain 16_14041958_T->C 16 14041958 14041958 T C snp 2526.77 0/1 99 223 127 96 0.43 exonic rs1799801 ERCC4 AU,AR synonymous SNV NM_005236 exon11 c.T2505C p.S835S 0.241214 0.2589 0.253194 0.2723 0.2353 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000116988.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 16_14234818_T->C 16 14234818 14234818 T C snp 31.77 0/1 60 8 6 2 0.25 intronic rs57989611 MKL2 AU NM_014048 exon3 c.154+201T>C 0.131789 0.2946 Uncertain 16_14304175_A->C 16 14304175 14304175 A C snp 795.77 0/1 99 63 29 34 0.54 intronic rs226779 MKL2 AU NM_014048 exon4 c.69702+10A>C 0.138978 0.2946 0.039711 0.0827 0.2981 Uncertain 16_14306119_G->A 16 14306119 14306119 G A snp 1298.77 0/1 99 86 39 47 0.55 intronic rs226778 MKL2 AU NM_014048 exon5 c.71747-91G>A 0.312899 0.2857 Uncertain 16_14311035_T->C 16 14311035 14311035 T C snp 1869.77 0/1 99 166 79 87 0.52 exonic rs226788 MKL2 AU synonymous SNV NM_014048 exon7 c.T405C p.A135A 0.151158 0.2986 0.053871 0.1014 0.2945 Uncertain 16_14339705_G->C 16 14339705 14339705 G C snp 315.77 0/1 99 23 13 10 0.43 intronic rs30149 MKL2 AU NM_014048 exon11 c.105054+188G>C 0.145367 0.3016 Uncertain 16_14345901_T->C 16 14345901 14345901 T C snp 1230.77 0/1 99 91 43 48 0.53 intronic rs30144 MKL2 AU NM_014048 exon14 c.111417+21T>C 0.395966 0.3016 0.322764 0.1995 0.2974 Uncertain 16_14346425_G->C 16 14346425 14346425 G C snp 340.77 0/1 99 18 6 12 0.67 intronic rs30143 MKL2 AU NM_014048 exon15 c.111896+66G>C 0.273163 0.2966 Uncertain 16_14352072_T->A 16 14352072 14352072 T A snp 1629.77 0/1 99 139 73 66 0.47 intronic rs246171 MKL2 AU NM_014048 exon16 c.117555+54T>A 0.317093 0.3026 0.218134 Uncertain 16_14354661_A->G 16 14354661 14354661 A G snp 184.77 0/1 99 12 6 6 0.5 intronic rs30125 MKL2 AU NM_014048 exon17 c.120302-104A>G 0.277955 0.3006 Uncertain 16_14700254_G->A 16 14700254 14700254 G A snp 264.77 0/1 52 14 3 11 0.79 intronic rs4782156 PARN AR,AD NM_002582 exon15 c.169767-86G>A 0.675319 0.7242 Uncertain 16_14742400_T->G 16 14742400 14742400 T G snp 2747.77 1/1 99 103 0 103 1.0 exonic rs11546303 BFAR AU nonsynonymous SNV NM_016561 exon3 c.T419G p.M140R 0.251997 0.1558 0.317146 0.3544 0.1703 1 T 1.0 P -0.923 T 0.0 T 0.0 T Pathogenic 16_14962298_A->G 16 14962298 14962298 A G snp 1162.77 0/1 99 84 41 43 0.51 intronic rs200141813 NOMO1 AU NM_014287 exon16 c.34696-106A>G 0.111222 0.122 Uncertain 16_14968859_C->T 16 14968859 14968859 C T snp 1724.77 0/1 99 168 94 74 0.44 intronic rs11863419 NOMO1 AU NM_014287 exon19 c.41184-33C>T 0.116613 0.1855 0.085835 0.1151 0.1876 Uncertain 16_15068908_C->G 16 15068908 15068908 C G snp 252.77 0/1 99 22 12 10 0.45 UTR5 rs28418438 PDXDC1 AU 0.429313 0.5198 Uncertain 16_15069202_T->C 16 15069202 15069202 T C snp 52.77 0/1 81 30 23 7 0.23 intronic rs71232880 PDXDC1 AU NM_001285449 exon1 c.21+125T>C Uncertain 16_15069303_G->C 16 15069303 15069303 G C snp 56.74 1/1 6 2 0 2 1.0 intronic rs889379 PDXDC1 AU NM_001285449 exon1 c.21+226G>C Uncertain 16_15082021_G->A 16 15082021 15082021 G A snp 230.77 0/1 99 29 19 10 0.34 intronic rs55973981 PDXDC1 AU NM_001285449 exon2 c.22553-9588G>A Uncertain 16_15082865_C->T 16 15082865 15082865 C T snp 1754.77 0/1 99 209 128 81 0.39 intronic rs4985167 PDXDC1 AU NM_001285449 exon2 c.22553-8744C>T Uncertain 16_15083131_A->T 16 15083131 15083131 A T snp 844.77 0/1 99 86 37 49 0.57 intronic rs4985166 PDXDC1 AU NM_001285449 exon2 c.22553-8478A>T Uncertain 16_15083383_G->A 16 15083383 15083383 G A snp 226.77 0/1 99 37 24 13 0.35 intronic rs113462655 PDXDC1 AU NM_001285449 exon2 c.22553-8226G>A Uncertain 16_15083531_C->A 16 15083531 15083531 C A snp 70.77 0/1 99 16 12 4 0.25 intronic rs62038549 PDXDC1 AU NM_001285449 exon2 c.22553-8078C>A Uncertain 16_15083561_G->A 16 15083561 15083561 G A snp 75.77 0/1 99 14 8 6 0.43 intronic rs145963881 PDXDC1 AU NM_001285449 exon2 c.22553-8048G>A 0.144569 0.1895 Uncertain 16_15083868_A->C 16 15083868 15083868 A C snp 320.77 0/1 56 20 5 15 0.75 intronic rs9928601 PDXDC1 AU NM_001285449 exon2 c.22553-7741A>C 0.491414 0.6329 Uncertain 16_15084045_G->A 16 15084045 15084045 G A snp 35.77 0/1 64 8 4 4 0.5 intronic rs71374762 PDXDC1 AU NM_001285449 exon2 c.22553-7564G>A Uncertain 16_15091589_-->T 16 15091589 15091589 - T indel 138.73 0/1 99 29 17 12 0.41 intronic rs11421981 PDXDC1 AU NM_001285449 exon2 c.22553-20insT 0.38738 0.2133 0.507764 0.5058 0.4133 Uncertain 16_15091601_G->C 16 15091601 15091601 G C snp 191.77 0/1 99 42 27 15 0.36 intronic rs28545123 PDXDC1 AU NM_001285449 exon2 c.22553-8G>C 0.277955 0.3829 0.2893 0.4658 Uncertain 16_15092116_C->T 16 15092116 15092116 C T snp 355.77 0/1 99 30 16 14 0.47 intronic rs6498535 PDXDC1 AU NM_001285449 exon3 c.23140-80C>T Uncertain 16_15098047_C->G 16 15098047 15098047 C G snp 826.77 0/1 99 116 77 39 0.34 exonic rs11549900 PDXDC1 AU nonsynonymous SNV NM_001285444 exon4 c.C165G p.I55M 0.3040 0.4713 0.16 T 1.0 P -0.914 T 0.048 T 0.025 T Pathogenic 16_15100202_A->G 16 15100202 15100202 A G snp 1147.77 0/1 99 142 91 51 0.36 intronic rs7187538 PDXDC1 AU NM_001285449 exon6 c.31194-48A>G 0.5246 0.5979 Uncertain 16_15110077_C->T 16 15110077 15110077 C T snp 1444.77 0/1 99 224 151 73 0.33 intronic rs4262938 PDXDC1 AU NM_001285449 exon9 c.41014+7C>T 0.357628 0.2679 0.4276 0.2587 Uncertain 16_15111218_C->T 16 15111218 15111218 C T snp 1367.77 0/1 99 191 126 65 0.34 exonic rs4985162 PDXDC1 AU nonsynonymous SNV NM_001285444 exon10 c.C821T p.P274L 0.170388 0.2654 0.4657 0.35 T 0.999 P -0.920 T 0.015 T 0.016 T Pathogenic 16_15116400_T->A 16 15116400 15116400 T A snp 628.77 0/1 99 51 29 22 0.43 intronic rs4985161 PDXDC1 AU NM_001285449 exon13 c.47504-160T>A Uncertain 16_15116521_C->T 16 15116521 15116521 C T snp 2557.77 0/1 99 149 48 101 0.68 intronic rs4985160 PDXDC1 AU NM_001285449 exon13 c.47504-39C>T 0.462208 0.5236 0.5398 Uncertain 16_15116625_G->T 16 15116625 15116625 G T snp 1087.77 0/1 99 59 21 38 0.64 intronic rs1058637 PDXDC1 AU NM_001285449 exon13 c.47555+14G>T 0.5305 0.5571 Uncertain 16_15120411_T->C 16 15120411 15120411 T C snp 743.77 0/1 99 45 18 27 0.6 intronic rs62039476 PDXDC1 AU NM_001285449 exon14 c.51443-88T>C Uncertain 16_15127986_T->C 16 15127986 15127986 T C snp 50.74 1/1 6 2 0 2 1.0 intronic rs7192563 PDXDC1 AU NM_001285447 exon20 c.36509-156T>C 0.727037 0.6478 Uncertain 16_15128416_A->G 16 15128416 15128416 A G snp 860.77 0/1 99 71 35 36 0.51 splicing rs35811052 PDXDC1 AU NM_001285447 exon21 c.36777+6A>G 0.196086 0.1111 0.230722 0.2388 0.1112 Pathogenic 16_15129459_A->G 16 15129459 15129459 A G snp 646.77 0/1 99 54 26 28 0.52 intronic rs4985155 PDXDC1 AU NM_001285447 exon22 c.37777+49A>G 0.417732 0.4425 0.337317 0.4037 0.4842 Uncertain 16_15129970_A->G 16 15129970 15129970 A G snp 1188.77 0/1 99 127 74 53 0.42 exonic rs7200543 PDXDC1 AU synonymous SNV NM_001285444 exon22 c.A2124G p.L708L 0.345048 0.371 0.275204 0.3412 0.4091 Uncertain 16_15131962_A->G 16 15131962 15131962 A G snp 807.77 0/1 99 84 47 37 0.44 exonic rs1135999 NTAN1 AU nonsynonymous SNV NM_173474 exon10 c.T859C p.S287P 0.34405 0.37 0.273203 0.3411 0.4080 1 T 0.000 P -0.928 T 0.0 T 0.0 T Pathogenic 16_15131974_G->T 16 15131974 15131974 G T snp 848.77 0/1 99 89 52 37 0.42 exonic rs1136001 NTAN1 AU nonsynonymous SNV NM_173474 exon10 c.C847A p.H283N 0.343251 0.3661 0.275127 0.3409 0.4073 0.5 T 0.0 P -0.912 T 0.0 T 0.0 T Pathogenic 16_15132108_A->G 16 15132108 15132108 A G snp 716.77 0/1 99 60 29 31 0.52 UTR3 rs2740 PDXDC1 AU 0.339856 0.37 0.268970 0.3383 0.4060 Uncertain 16_15133783_-->T 16 15133783 15133783 - T indel 251.73 0/1 99 47 30 17 0.36 intronic rs34345533 NTAN1 AU NM_001270766 exon3 c.1938-42insT 0.304712 0.3462 0.3137 0.3743 Uncertain 16_15133889_T->G 16 15133889 15133889 T G snp 1200.77 0/1 99 148 89 59 0.4 exonic rs14347 NTAN1 AU synonymous SNV NM_173474 exon8 c.A576C p.A192A 0.344649 0.372 0.276127 0.3419 0.4137 Uncertain 16_15135071_G->A 16 15135071 15135071 G A snp 338.78 1/1 27 9 0 9 1.0 intronic rs7498279 NTAN1 AU NM_001270766 exon4 c.3091+93G>A 0.999601 1 Uncertain 16_15135269_T->G 16 15135269 15135269 T G snp 465.77 1/1 36 12 0 12 1.0 intronic rs9926473 NTAN1 AU NM_001270766 exon5 c.3592-210T>G 0.877596 1 Uncertain 16_15138413_C->T 16 15138413 15138413 C T snp 125.78 0/1 27 5 1 4 0.8 intronic rs3803573 NTAN1 AU NM_001270766 exon6 c.6377+149C>T 0.334465 0.3611 Uncertain 16_15155898_T->C 16 15155898 15155898 T C snp 599.77 0/1 99 31 12 19 0.61 intronic rs2966157 PDXDC1 AU NM_001285447 exon23 c.40554+23711T>C 0.594848 0.498 Uncertain 16_15156971_A->G 16 15156971 15156971 A G snp 210.77 0/1 99 12 5 7 0.58 intronic rs2941259 PDXDC1 AU NM_001285447 exon23 c.40554+24784A>G 0.591853 0.498 Uncertain 16_15168760_T->C 16 15168760 15168760 T C snp 329.77 0/1 99 26 13 13 0.5 intronic rs4985147 PDXDC1 AU NM_001285447 exon23 c.40554+36573T>C 0.467053 0.4355 0.493305 0.5752 0.4672 Uncertain 16_15173746_G->A 16 15173746 15173746 G A snp 338.77 0/1 99 24 10 14 0.58 intronic rs2941253 PDXDC1 AU NM_001285447 exon23 c.40554+41559G>A 0.514976 0.4375 Uncertain 16_15178688_C->A 16 15178688 15178688 C A snp 520.77 0/1 99 54 34 20 0.37 intronic rs8061051 PDXDC1 AU NM_001285447 exon23 c.40554+46501C>A 0.515775 0.4355 Uncertain 16_15187912_G->C 16 15187912 15187912 G C snp 1013.77 1/1 72 37 0 37 1.0 intronic rs11075256 PDXDC1 AU NM_001285449 exon17 c.163679-44823G>C 0.598043 0.6637 Uncertain 16_15489683_G->A 16 15489683 15489683 G A snp 224.84 1/1 18 6 0 6 1.0 UTR5 rs2925566 MPV17L AU 0.276158 0.5655 Uncertain 16_15493046_G->A 16 15493046 15493046 G A snp 218.84 1/1 18 6 0 6 1.0 intronic rs153001 MPV17L AU NM_001128423 exon2 c.4889-1597G>A 0.6877 0.5972 Uncertain 16_15501658_-->T 16 15501658 15501658 - T indel 187.73 0/1 44 15 3 12 0.8 intronic rs200953251 MPV17L AU NM_173803 exon2 c.11926-22insT 0.192692 0.3343 0.1761 0.3429 Uncertain 16_15596142_G->C 16 15596142 15596142 G C snp 1152.77 1/1 84 46 0 46 1.0 UTR5 rs12448500 C16orf45 AU 0.986022 1 0.989488 0.9953 1 Uncertain 16_15609029_T->C 16 15609029 15609029 T C snp 54.74 1/1 6 2 0 2 1.0 intronic rs7501278 C16orf45 AU NM_001142469 exon2 c.12983-132T>C 0.983427 1 Uncertain 16_15626831_C->T 16 15626831 15626831 C T snp 337.77 0/1 99 36 21 15 0.42 intronic rs12918517 C16orf45 AU NM_001142469 exon2 c.13107+17546C>T 0.317492 0.5228 0.3239 0.5530 Uncertain 16_15626960_A->G 16 15626960 15626960 A G snp 488.77 0/1 99 45 23 22 0.49 intronic rs12919246 C16orf45 AU NM_001142469 exon2 c.13107+17675A>G 0.523163 0.5228 Uncertain 16_15696480_-->AGGAAAGAAGGAGGGAGGCAGAG 16 15696480 15696480 - AGGAAAGAAGGAGGGAGGCAGAG indel 4593.73 1/1 57 19 0 19 1.0 intronic rs61282123 KIAA0430 AU NM_001184999 exon5 c.5511+420insAGGAAAGAAGGAGGGAGGCAGAG 0.958866 0.998 0.8843 0.8611 ID=COSM1588238;OCCURENCE=1(endometrium) Uncertain 16_15820863_C->T 16 15820863 15820863 C T snp 5328.77 1/1 99 200 1 199 0.99 exonic rs16967494 MYH11 AD nonsynonymous SNV NM_002474 exon28 c.G3700A p.A1234T 0.203874 0.2728 0.206788 0.2457 0.3021 0.01 T 0.979 P -1.088 T 0.053 T 0.025 T CLINSIG=non-pathogenic;CLNDBN=not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000126941.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 ID=CM158134;DIS=Thoracic aortic aneurysm;TAG=DM;PUB=25907466 DM Pathogenic 16_15838940_G->C 16 15838940 15838940 G C snp 3524.77 1/1 99 132 0 132 1.0 intronic rs2384934 MYH11 AD NM_001040113 exon23 c.36318-45G>C 0.871805 0.999 0.742996 0.7414 0.9998 Uncertain 16_15839034_G->A 16 15839034 15839034 G A snp 3504.77 1/1 99 132 0 132 1.0 exonic rs1050113 MYH11 AD synonymous SNV NM_002474 exon20 c.C2472T p.A824A 0.253594 0.3542 0.263198 0.2975 0.4117 CLINSIG=non-pathogenic;CLNDBN=not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000126936.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Uncertain 16_15843899_G->A 16 15843899 15843899 G A snp 4112.77 1/1 99 154 0 154 1.0 intronic rs6498570 MYH11 AD NM_001040113 exon27 c.41327-95G>A 0.95607 1 0.9282 1 Uncertain 16_15850204_A->G 16 15850204 15850204 A G snp 2555.77 1/1 99 95 0 95 1.0 exonic rs2272554 MYH11 AD synonymous SNV NM_002474 exon14 c.T1743C p.A581A 0.548123 0.6647 0.499000 0.4437 0.7028 CLINSIG=non-pathogenic;CLNDBN=not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000126931.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Uncertain 16_15853596_C->G 16 15853596 15853596 C G snp 947.77 1/1 72 30 0 30 1.0 intronic rs2280764 MYH11 AD NM_001040113 exon31 c.50918+11C>G 0.534345 0.6567 0.473218 0.4164 0.6984 CLINSIG=non-pathogenic;CLNDBN=not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000126981.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Uncertain 16_15857604_A->C 16 15857604 15857604 A C snp 168.77 0/1 99 41 24 17 0.41 intronic MYH11 AD NM_001040113 exon33 c.54985-48A>C 0.0447 0.0130 Uncertain 16_15872536_G->T 16 15872536 15872536 G T snp 545.77 0/1 99 31 12 19 0.61 intronic MYH11 AD NM_001040113 exon36 c.69969-100G>T Uncertain 16_15931611_C->T 16 15931611 15931611 C T snp 77.77 0/1 99 7 4 3 0.43 intronic rs8048670 MYH11 AD NM_001040113 exon42 c.129097-153C>T 0.384385 0.4702 Uncertain 16_15961192_C->T 16 15961192 15961192 C T snp 56.74 1/1 6 2 0 2 1.0 UTR3 rs12598941 FOPNL AU 0.0898562 0.2024 Uncertain 16_15961351_T->C 16 15961351 15961351 T C snp 666.77 0/1 99 53 25 28 0.53 exonic rs15784 FOPNL AU synonymous SNV NM_001304497 exon3 c.A249G p.E83E 0.0898562 0.2024 0.060259 0.0637 0.2131 Uncertain 16_15961356_C->T 16 15961356 15961356 C T snp 644.77 0/1 99 53 25 28 0.53 exonic rs12598966 FOPNL AU nonsynonymous SNV NM_001304497 exon3 c.G244A p.E82K 0.0898562 0.2024 0.060028 0.0637 0.2132 0.82 T 0.0 P -1.102 T 0.18 T 0.133 T Pathogenic 16_15961369_G->A 16 15961369 15961369 G A snp 730.77 0/1 99 59 25 34 0.58 exonic rs60244915 FOPNL AU synonymous SNV NM_001304497 exon3 c.C231T p.D77D 0.0898562 0.2024 0.060643 0.0638 0.2140 Uncertain 16_15961513_C->A 16 15961513 15961513 C A snp 116.77 0/1 66 6 2 4 0.67 intronic rs12599003 FOPNL AU NM_144600 exon1 c.77+140C>A 0.0900559 0.2024 Uncertain 16_15967224_A->C 16 15967224 15967224 A C snp 344.77 0/1 99 20 8 12 0.6 intronic rs7193885 FOPNL AU NM_144600 exon2 c.6051-123A>C 0.090655 0.2024 Uncertain 16_15967236_T->C 16 15967236 15967236 T C snp 209.77 0/1 99 27 17 10 0.37 intronic rs8056910 FOPNL AU NM_144600 exon2 c.6051-111T>C 0.34385 0.4444 Uncertain 16_15967361_-->CTA 16 15967361 15967361 - CTA indel 4656.73 0/1 99 173 77 96 0.55 exonic rs10656021 FOPNL AU nonframeshift insertion NM_001304500 exon3 c.236_237insTAG p.R79delinsSR 0.0872604 0.2024 0.063818 0.0628 0.2156 Uncertain 16_15967620_G->T 16 15967620 15967620 G T snp 41.77 0/1 70 4 2 2 0.5 intronic rs72773967 FOPNL AU NM_144600 exon2 c.6188+136G>T 0.090655 0.2024 Uncertain 16_15973605_T->C 16 15973605 15973605 T C snp 194.77 0/1 99 10 4 6 0.6 intronic rs12597051 FOPNL AU NM_144600 exon3 c.12364-55T>C 0.0914537 0.2034 0.060281 Uncertain 16_15973628_A->G 16 15973628 15973628 A G snp 260.77 0/1 99 22 12 10 0.45 intronic rs12596557 FOPNL AU NM_144600 exon3 c.12364-32A>G 0.091254 0.2034 0.061171 0.0811 0.2697 Uncertain 16_15973653_T->A 16 15973653 15973653 T A snp 376.77 0/1 99 36 20 16 0.44 intronic rs12597053 FOPNL AU NM_144600 exon3 c.12364-7T>A 0.091254 0.2034 0.0974 0.2975 Uncertain 16_15973774_C->G 16 15973774 15973774 C G snp 990.77 0/1 99 90 44 46 0.51 intronic rs12598817 FOPNL AU NM_144600 exon3 c.12449+29C>G 0.0910543 0.2034 0.064183 0.0726 0.2368 Uncertain 16_15982258_A->G 16 15982258 15982258 A G snp 1198.77 0/1 99 93 46 47 0.51 intronic rs3213476 FOPNL AU NM_144600 exon5 c.21118-156A>G 0.215855 0.2044 Uncertain 16_16108282_T->C 16 16108282 16108282 T C snp 155.77 0/1 99 16 8 8 0.5 intronic rs4148337 ABCC1 AU NM_004996 exon4 c.64739-65T>C 0.536542 0.376 Uncertain 16_16110244_C->G 16 16110244 16110244 C G snp 381.77 0/1 99 32 18 14 0.44 intronic rs185005 ABCC1 AU NM_004996 exon5 c.66744-108C>G 0.730431 0.744 Uncertain 16_16110253_T->C 16 16110253 16110253 T C snp 530.77 0/1 99 41 23 18 0.44 intronic rs246215 ABCC1 AU NM_004996 exon5 c.66744-99T>C 0.730631 0.744 Uncertain 16_16126758_C->T 16 16126758 16126758 C T snp 297.77 0/1 99 17 8 9 0.53 intronic rs924137 ABCC1 AU NM_004996 exon6 c.83357-207C>T 0.328674 0.3323 Uncertain 16_16126764_T->C 16 16126764 16126764 T C snp 303.77 0/1 99 17 8 9 0.53 intronic rs924138 ABCC1 AU NM_004996 exon6 c.83357-201T>C 0.451478 0.38 Uncertain 16_16138322_T->C 16 16138322 16138322 T C snp 472.77 0/1 99 44 25 19 0.43 exonic rs246221 ABCC1 AU synonymous SNV NM_004996 exon8 c.T825C p.V275V 0.42472 0.4425 0.400454 0.3370 0.4387 Uncertain 16_16139714_T->C 16 16139714 16139714 T C snp 1836.77 0/1 99 137 65 72 0.53 exonic rs35587 ABCC1 AU synonymous SNV NM_004996 exon9 c.T1062C p.N354N 0.422923 0.4415 0.398457 0.3364 0.4380 Uncertain 16_16139878_A->G 16 16139878 16139878 A G snp 1650.77 0/1 99 126 59 67 0.53 intronic rs35588 ABCC1 AU NM_004996 exon9 c.96262+8A>G 0.414137 0.4415 0.386208 0.3367 0.4380 Uncertain 16_16149871_G->A 16 16149871 16149871 G A snp 203.77 0/1 99 18 10 8 0.44 intronic rs35595 ABCC1 AU NM_004996 exon12 c.106340-77G>A 0.260982 0.3056 Uncertain 16_16161976_G->A 16 16161976 16161976 G A snp 3065.77 0/1 99 250 118 132 0.53 intronic rs35604 ABCC1 AU NM_004996 exon13 c.118404-36G>A 0.782548 0.8125 0.843568 0.7914 0.7900 Uncertain 16_16162019_T->C 16 16162019 16162019 T C snp 3068.77 0/1 99 250 120 130 0.52 exonic rs35605 ABCC1 AU synonymous SNV NM_004996 exon13 c.T1684C p.L562L 0.786542 0.8135 0.846408 0.7932 0.7917 Uncertain 16_16162264_C->T 16 16162264 16162264 C T snp 113.77 0/1 99 9 5 4 0.44 intronic rs35606 ABCC1 AU NM_004996 exon13 c.118551+105C>T 0.111422 0.1587 Uncertain 16_16173516_C->T 16 16173516 16173516 C T snp 57.74 1/1 6 3 0 3 1.0 intronic rs2644983 ABCC1 AU NM_004996 exon16 c.129727+181C>T 0.246206 0.2262 Uncertain 16_16184232_C->G 16 16184232 16184232 C G snp 1152.77 0/1 99 122 68 54 0.44 intronic rs2074087 ABCC1 AU NM_004996 exon19 c.140653-29C>G 0.792532 0.8373 0.838869 0.8232 0.8283 Uncertain 16_16192565_G->A 16 16192565 16192565 G A snp 215.77 0/1 99 25 16 9 0.36 intronic rs2239995 ABCC1 AU NM_004996 exon20 c.152875-3918G>A 0.197883 0.1637 Uncertain 16_16200756_C->T 16 16200756 16200756 C T snp 1332.77 1/1 96 42 0 42 1.0 intronic rs11075296 ABCC1 AU NM_004996 exon21 c.157122+26C>T 0.967252 1 0.973183 0.9919 1 Uncertain 16_16205141_A->G 16 16205141 16205141 A G snp 1030.77 1/1 75 31 0 31 1.0 intronic rs4780592 ABCC1 AU NM_004996 exon22 c.161623-90A>G 0.645168 0.7669 Uncertain 16_16205143_A->G 16 16205143 16205143 A G snp 1044.77 1/1 78 35 0 35 1.0 intronic rs4780593 ABCC1 AU NM_004996 exon22 c.161623-88A>G 0.646965 0.7669 Uncertain 16_16205161_G->A 16 16205161 16205161 G A snp 457.77 0/1 99 47 27 20 0.43 intronic rs4238623 ABCC1 AU NM_004996 exon22 c.161623-70G>A 0.538538 0.5407 Uncertain 16_16205167_-->TGGGGC 16 16205167 16205167 - TGGGGC indel 1523.73 0/1 99 48 27 21 0.44 intronic rs111263400 ABCC1 AU NM_004996 exon22 c.161623-64insTGGGGC 0.500599 0.499 Uncertain 16_16205449_G->A 16 16205449 16205449 G A snp 272.8 1/1 21 9 0 9 1.0 intronic rs3851716 ABCC1 AU NM_004996 exon22 c.161831+10G>A 0.929513 1 0.937715 0.9828 1 Uncertain 16_16208580_C->T 16 16208580 16208580 C T snp 858.77 0/1 99 73 40 33 0.45 intronic rs28363990 ABCC1 AU NM_004996 exon23 c.165014-42C>T 0.0169728 0.0813 0.000080 0.0061 0.0741 Uncertain 16_16219596_-->AAAAAAAA 16 16219596 16219596 - AAAAAAAA indel 2026.73 1/1 75 25 0 25 1.0 intronic rs113369901 ABCC1 AU NM_004996 exon26 c.176058-70insAAAAAAAA 0.496206 0.4871 Uncertain 16_16232202_T->- 16 16232202 16232202 T - indel 5598.73 1/1 99 167 0 167 1.0 intronic rs398078528 ABCC1 AU NM_004996 exon30 c.188612-18delT 0.296725 0.4474 0.2840 0.4447 Uncertain 16_16249190_C->G 16 16249190 16249190 C G snp 52.74 1/1 6 2 0 2 1.0 intronic rs12598559 ABCC6 AR,AD NM_001171 exon4 c.4899+302C>G 0.28135 0.4494 Uncertain 16_16251435_G->A 16 16251435 16251435 G A snp 1209.77 1/1 87 43 0 43 1.0 intronic rs3896244 ABCC6 AR,AD NM_001171 exon5 c.7530-84G>A 0.971845 1 Uncertain 16_16253284_C->- 16 16253284 16253284 C - indel 1805.73 1/1 99 63 3 60 0.95 intronic rs398028845 ABCC6 AR,AD NM_001171 exon6 c.9349-54delC Uncertain 16_16253570_C->T 16 16253570 16253570 C T snp 966.77 1/1 72 25 0 25 1.0 intronic rs2238470 ABCC6 AR,AD NM_001171 exon6 c.9451+130C>T 0.286142 0.4484 Uncertain 16_16255195_T->G 16 16255195 16255195 T G snp 392.77 1/1 30 12 0 12 1.0 intronic rs3851721 ABCC6 AR,AD NM_001171 exon7 c.11305-99T>G 0.975839 1 Uncertain 16_16255205_C->T 16 16255205 16255205 C T snp 633.77 1/1 48 18 0 18 1.0 intronic rs2376957 ABCC6 AR,AD NM_001171 exon7 c.11305-89C>T 0.280152 0.4484 Uncertain 16_16255240_G->A 16 16255240 16255240 G A snp 1506.77 1/1 99 46 0 46 1.0 intronic rs3213470 ABCC6 AR,AD NM_001171 exon7 c.11305-54G>A 0.285942 0.4484 Uncertain 16_16256767_T->G 16 16256767 16256767 T G snp 911.77 1/1 69 24 0 24 1.0 intronic rs3213473 ABCC6 AR,AD NM_001171 exon8 c.12860-82T>G 0.726238 0.875 Uncertain 16_16263837_T->C 16 16263837 16263837 T C snp 180.9 1/1 15 5 0 5 1.0 intronic rs7201980 ABCC6 AR,AD NM_001171 exon10 c.19721+127T>C 0.974042 1 Uncertain 16_16267079_A->G 16 16267079 16267079 A G snp 807.77 1/1 60 21 0 21 1.0 intronic rs11866320 ABCC6 AR,AD NM_001171 exon11 c.23151-61A>G 0.975639 1 Uncertain 16_16269634_G->- 16 16269634 16269634 G - indel 173.8 1/1 18 6 0 6 1.0 intronic rs11295432 ABCC6 AR,AD NM_001171 exon12 c.25778-133delG 0.905152 0.9444 Uncertain 16_16271357_T->C 16 16271357 16271357 T C snp 4905.77 1/1 99 180 0 180 1.0 exonic rs6416668 ABCC6 AR,AD nonsynonymous SNV NM_001171 exon19 c.A2542G p.M848V 0.964257 1 0.964445 0.9902 0.9969 0.17 T 0.000 P -0.945 T 0.0 T 0.0 T Pathogenic 16_16272670_T->C 16 16272670 16272670 T C snp 3156.77 1/1 99 115 0 115 1.0 exonic rs7500834 ABCC6 AR,AD synonymous SNV NM_001171 exon18 c.A2400G p.G800G 0.964457 1 0.964522 0.9905 1 Uncertain 16_16278948_C->T 16 16278948 16278948 C T snp 430.77 1/1 33 13 0 13 1.0 intronic rs41278182 ABCC6 AR,AD NM_001171 exon17 c.34902+57C>T 0.301318 0.5119 0.203241 Uncertain 16_16280921_T->C 16 16280921 16280921 T C snp 839.77 1/1 63 30 0 30 1.0 intronic rs8056103 ABCC6 AR,AD NM_001171 exon18 c.36991-59T>C 0.953874 1 Uncertain 16_16283973_G->A 16 16283973 16283973 G A snp 36.77 0/1 65 5 3 2 0.4 intronic rs55707615 ABCC6 AR,AD NM_001171 exon20 c.40031-47G>A 0.319688 0.5089 0.221521 0.3372 0.5030 Uncertain 16_16284265_T->C 16 16284265 16284265 T C snp 619.77 0/1 99 38 15 23 0.61 intronic rs2239322 ABCC6 AR,AD NM_001171 exon20 c.40235+41T>C 0.320887 0.5089 0.222179 0.3377 0.5045 Uncertain 16_16284272_C->T 16 16284272 16284272 C T snp 1001.77 1/1 72 34 0 34 1.0 intronic rs7193932 ABCC6 AR,AD NM_001171 exon20 c.40235+48C>T 0.947484 1 0.943512 0.9846 0.9999 Uncertain 16_16286519_G->C 16 16286519 16286519 G C snp 40.77 0/1 31 3 1 2 0.67 intronic rs7206048 ABCC6 AR,AD NM_001171 exon21 c.42697-167G>C 0.288139 0.5417 Uncertain 16_16286614_G->C 16 16286614 16286614 G C snp 1021.77 1/1 75 37 0 37 1.0 intronic rs6498618 ABCC6 AR,AD NM_001171 exon21 c.42697-72G>C 0.697684 0.7411 Uncertain 16_16291858_G->C 16 16291858 16291858 G C snp 2595.77 1/1 99 91 0 91 1.0 intronic rs12929920 ABCC6 AR,AD NM_001171 exon22 c.47888-19G>C 0.73143 0.9107 0.673722 0.7779 0.9191 Uncertain 16_16291871_G->C 16 16291871 16291871 G C snp 2988.77 1/1 99 108 0 108 1.0 intronic rs9940089 ABCC6 AR,AD NM_001171 exon22 c.47888-6G>C 0.787939 0.9425 0.738110 0.7977 0.9478 Uncertain 16_16291971_C->T 16 16291971 16291971 C T snp 1783.77 0/1 99 155 70 85 0.55 exonic rs9940825 ABCC6 AR,AD synonymous SNV NM_001171 exon10 c.G1245A p.V415V 0.232228 0.0972 0.306034 0.3067 0.0962 Uncertain 16_16291983_A->G 16 16291983 16291983 A G snp 3550.77 1/1 99 142 1 141 0.99 exonic rs9930886 ABCC6 AR,AD synonymous SNV NM_001171 exon10 c.T1233C p.N411N 0.282748 0.3214 0.313298 0.3384 0.3068 CLINSIG=probable-non-pathogenic;CLNDBN=not_provided;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000132638.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Uncertain 16_16292128_C->T 16 16292128 16292128 C T snp 64.77 0/1 93 6 3 3 0.5 intronic rs12935089 ABCC6 AR,AD NM_001171 exon22 c.48050+89C>T 0.317891 0.3175 Uncertain 16_16292133_A->G 16 16292133 16292133 A G snp 38.77 0/1 67 5 3 2 0.4 intronic rs12935658 ABCC6 AR,AD NM_001171 exon22 c.48050+94A>G 0.317891 0.3185 Uncertain 16_16308351_G->A 16 16308351 16308351 G A snp 667.77 0/1 99 46 17 29 0.63 intronic rs2239319 ABCC6 AR,AD NM_001171 exon27 c.64317+45G>A 0.103435 0.3581 0.010290 0.0561 0.3394 Uncertain 16_17190040_G->T 16 17190040 17190040 G T snp 847.77 0/1 99 73 41 32 0.44 intergenic rs3889206 NPIPA7 AU 0.579673 0.4137 Uncertain 16_17202757_C->T 16 17202757 17202757 C T snp 1296.77 0/1 99 112 62 50 0.45 exonic rs35309694 XYLT1 AR nonsynonymous SNV NM_022166 exon12 c.G2675A p.R892Q 0.136182 0.0496 0.103663 0.0523 0.0380 0.27 T 0.0 P -0.884 T 0.532 P 0.019 P Pathogenic 16_17221423_C->T 16 17221423 17221423 C T snp 526.77 1/1 39 17 0 17 1.0 intronic rs4782034 XYLT1 AR NM_022166 exon3 c.18971-99C>T 0.935304 0.9663 Uncertain 16_17294295_C->T 16 17294295 17294295 C T snp 719.77 0/1 99 52 27 25 0.48 intronic rs11075341 XYLT1 AR NM_022166 exon9 c.91787-43C>T 0.671725 0.5288 0.574727 0.5622 0.4879 Uncertain 16_17432079_C->T 16 17432079 17432079 C T snp 2040.77 0/1 99 179 96 83 0.46 intronic rs62030299 XYLT1 AR NM_022166 exon11 c.249317-19789C>T 0.0505192 0.0288 0.0838 0.05 Uncertain 16_17564780_C->G 16 17564780 17564780 C G snp 50.74 1/1 6 2 0 2 1.0 upstream XYLT1 AR Uncertain 16_18543017_T->C 16 18543017 18543017 T C snp 57.77 0/1 86 33 24 9 0.27 intronic rs7203700 NOMO2 AU NM_173614 exon19 c.31236+88T>C Uncertain 16_18807011_C->T 16 18807011 18807011 C T snp 288.77 0/1 99 34 21 13 0.38 intronic rs150354477 ARL6IP1 AR NM_015161 exon3 c.2330+108C>T 0.000199681 0.001 Uncertain 16_18823379_T->C 16 18823379 18823379 T C snp 2304.77 1/1 99 85 0 85 1.0 exonic rs2606556 SMG1 AU synonymous SNV NM_015092 exon61 c.A10692G p.Q3564Q 0.990815 1 0.998848 0.9844 0.9992 Uncertain 16_18830692_C->T 16 18830692 18830692 C T snp 151.77 0/1 99 9 4 5 0.56 intronic rs2270504 SMG1 AU NM_015092 exon8 c.9933-131C>T 0.121805 0.2063 Uncertain 16_19032780_G->T 16 19032780 19032780 G T snp 56.74 1/1 6 2 0 2 1.0 intronic rs7190066 TMC7 AU NM_024847 exon4 c.37565-170G>T 0.859625 0.9315 Uncertain 16_19041491_T->C 16 19041491 19041491 T C snp 947.77 1/1 69 30 0 30 1.0 intronic rs4381586 TMC7 AU NM_024847 exon6 c.46160-54T>C 1 1 Uncertain 16_19041595_G->A 16 19041595 19041595 G A snp 1849.77 1/1 99 68 0 68 1.0 exonic rs28583298 TMC7 AU nonsynonymous SNV NM_001160364 exon6 c.G431A p.G144E 0.54373 0.7788 0.498615 0.6091 0.7819 1 T 0.570 P -0.972 T 0.0 T 0.007 T Pathogenic 16_19049378_A->G 16 19049378 19049378 A G snp 5624.77 1/1 99 213 0 213 1.0 intronic rs8043993 TMC7 AU NM_024847 exon8 c.53984+9A>G 0.60024 0.7798 0.557873 0.6293 0.7835 Uncertain 16_19051520_A->G 16 19051520 19051520 A G snp 343.78 1/1 27 9 0 9 1.0 intronic rs11074355 TMC7 AU NM_024847 exon9 c.56225-90A>G 0.601837 0.7798 Uncertain 16_19056069_A->G 16 19056069 19056069 A G snp 135.03 1/1 12 4 0 4 1.0 intronic rs55792501 TMC7 AU NM_024847 exon10 c.60820-136A>G 0.91853 0.9296 Uncertain 16_19056769_G->A 16 19056769 19056769 G A snp 1935.77 1/1 99 71 0 71 1.0 intronic rs12051270 TMC7 AU NM_024847 exon11 c.61375+9G>A 0.466454 0.7153 0.460289 0.5582 0.7253 Uncertain 16_19063045_C->T 16 19063045 19063045 C T snp 2118.77 0/1 99 193 100 93 0.48 exonic rs191596442 TMC7 AU nonsynonymous SNV NM_001160364 exon13 c.C1448T p.P483L 0.000798722 0.003 0.0002 0.0021 0.42 T 1.000 D -0.897 T 0.037 T 0.027 T Pathogenic 16_19067933_G->A 16 19067933 19067933 G A snp 3386.77 1/1 99 121 0 121 1.0 exonic rs17854511 TMC7 AU synonymous SNV NM_001160364 exon14 c.G1611A p.T537T 0.471246 0.754 0.458288 0.5610 0.7618 Uncertain 16_19079095_T->G 16 19079095 19079095 T G snp 1364.77 1/1 99 44 0 44 1.0 intronic rs4531717 COQ7 AR NM_016138 exon1 c.73+36T>G 0.8752 0.9653 0.882181 0.9352 0.9662 Uncertain 16_19080184_C->T 16 19080184 19080184 C T snp 590.77 1/1 45 22 0 22 1.0 intronic rs4630530 COQ7 AR NM_016138 exon1 c.73+1125C>T 0.465455 0.753 0.5428 0.7475 Uncertain 16_19080227_-->TG 16 19080227 19080227 - TG indel 947.73 1/1 54 19 0 19 1.0 intronic rs75015998 COQ7 AR NM_016138 exon1 c.73+1168insTG 0.907748 0.9643 0.9215 0.9653 Uncertain 16_19083221_A->G 16 19083221 19083221 A G snp 4740.77 1/1 99 169 0 169 1.0 intronic rs4782202 COQ7 AR NM_016138 exon2 c.4263-28A>G 0.908746 0.9653 0.905033 0.9475 0.9658 Uncertain 16_19085298_C->T 16 19085298 19085298 C T snp 4523.77 1/1 99 174 0 174 1.0 exonic rs11074359 COQ7 AR nonsynonymous SNV NM_001190983 exon3 c.C194T p.T65M 0.574681 0.8145 0.537556 0.6270 0.8180 0.02 T 0.0 P -1.050 T 0.889 T 0.631 P Pathogenic 16_19087053_C->T 16 19087053 19087053 C T snp 850.77 0/1 99 77 37 40 0.52 exonic rs374349720 COQ7 AR synonymous SNV NM_001190983 exon4 c.C264T p.T88T 0.000077 1.786e-05 0 Uncertain 16_19236181_C->T 16 19236181 19236181 C T snp 1530.77 1/1 99 51 0 51 1.0 intronic rs2072076 SYT17 AU NM_016524 exon7 c.56192+21C>T 0.435703 0.1438 0.504618 0.3802 0.1329 Uncertain 16_19261160_G->T 16 19261160 19261160 G T snp 262.77 0/1 99 15 6 9 0.6 intronic rs3785353 SYT17 AU NM_016524 exon8 c.98233-17041G>T 0.203275 0.3363 Uncertain 16_19297219_T->G 16 19297219 19297219 T G snp 4612.77 1/1 99 178 3 175 0.98 exonic rs179196 CLEC19A AU nonsynonymous SNV NM_001256720 exon1 c.T46G p.S16A 0.211262 0.5228 0.1676 0.5498 Pathogenic 16_19310092_T->C 16 19310092 19310092 T C snp 4264.77 1/1 99 157 0 157 1.0 exonic rs1548450 CLEC19A AU synonymous SNV NM_001256720 exon2 c.T186C p.A62A 0.467252 0.5099 0.3791 0.4879 Uncertain 16_19310221_A->C 16 19310221 19310221 A C snp 172.77 0/1 99 16 10 6 0.38 intronic rs66465307 CLEC19A AU NM_001256720 exon2 c.12987+61A>C 0.102835 0.0536 Uncertain 16_19315621_C->G 16 19315621 19315621 C G snp 132.77 0/1 99 15 10 5 0.33 intronic rs16971804 CLEC19A AU NM_001256720 exon3 c.18304+144C>G 0.307109 0.248 Uncertain 16_19455284_T->C 16 19455284 19455284 T C snp 562.77 1/1 42 19 0 19 1.0 intronic rs8052298 TMC5 AU NM_001261841 exon4 c.4042-118T>C 0.838259 0.8571 Uncertain 16_19455319_ATGGATGG->- 16 19455319 19455326 ATGGATGG - indel 3475.73 1/1 99 37 0 37 1.0 intronic rs144130376 TMC5 AU NM_001261841 exon4 c.4042-83_4042-76delATGGATGG Uncertain 16_19455615_G->A 16 19455615 19455615 G A snp 732.77 1/1 54 24 0 24 1.0 intronic rs4782247 TMC5 AU NM_001261841 exon4 c.4212+43G>A 0.871406 0.8591 0.853285 0.8464 0.8641 Uncertain 16_19455699_G->T 16 19455699 19455699 G T snp 141.03 1/1 12 4 0 4 1.0 intronic rs4782248 TMC5 AU NM_001261841 exon4 c.4212+127G>T 0.871406 0.8591 Uncertain 16_19460842_A->G 16 19460842 19460842 A G snp 4165.77 1/1 99 159 0 159 1.0 intronic rs6497373 TMC5 AU NM_001261841 exon5 c.9503-21A>G 0.861821 0.8611 0.837970 0.8355 0.8642 Uncertain 16_19471665_T->C 16 19471665 19471665 T C snp 5258.77 1/1 99 211 1 210 1.0 intronic rs6497375 TMC5 AU NM_001261841 exon6 c.20296+9T>C 0.809904 0.8591 0.769663 0.8222 0.8646 Uncertain 16_19481234_T->G 16 19481234 19481234 T G snp 223.77 0/1 99 31 20 11 0.35 intronic rs4444328 TMC5 AU NM_001261841 exon10 c.29787+87T>G 0.398762 0.2847 Uncertain 16_19503598_C->T 16 19503598 19503598 C T snp 1061.77 0/1 99 104 52 52 0.5 intronic rs1475962 TMC5 AU NM_001261841 exon19 c.52190+48C>T 0.564896 0.4593 0.640372 0.6823 0.4358 Uncertain 16_19505406_T->C 16 19505406 19505406 T C snp 158.77 0/1 99 13 7 6 0.46 intronic rs1475964 TMC5 AU NM_001261841 exon20 c.54223-177T>C 0.565495 0.4623 Uncertain 16_19505730_T->C 16 19505730 19505730 T C snp 409.77 0/1 99 32 17 15 0.47 intronic rs2245423 TMC5 AU NM_001261841 exon20 c.54328+42T>C 0.565495 0.4623 0.633698 0.6819 0.4342 Uncertain 16_19505751_G->A 16 19505751 19505751 G A snp 372.77 0/1 99 22 8 14 0.64 intronic rs2856608 TMC5 AU NM_001261841 exon20 c.54328+63G>A 0.567891 0.4623 Uncertain 16_19505813_T->A 16 19505813 19505813 T A snp 46.77 0/1 33 3 1 2 0.67 intronic rs2353696 TMC5 AU NM_001261841 exon20 c.54328+125T>A 0.565296 0.4623 Uncertain 16_19508573_A->G 16 19508573 19508573 A G snp 1070.77 0/1 99 67 26 41 0.61 intronic rs2187659 TMC5 AU NM_001261841 exon21 c.57125+88A>G 0.565495 0.4613 Uncertain 16_19508583_C->G 16 19508583 19508583 C G snp 824.77 0/1 99 47 18 29 0.62 intronic rs2187660 TMC5 AU NM_001261841 exon21 c.57125+98C>G 0.565695 0.4623 Uncertain 16_19509333_C->T 16 19509333 19509333 C T snp 1493.77 0/1 99 145 78 67 0.46 UTR3 rs2245086 TMC5 AU 0.870208 0.8452 0.873480 0.8660 0.8432 Uncertain 16_19522394_A->G 16 19522394 19522394 A G snp 50.77 0/1 79 15 12 3 0.2 intronic rs12923369 GDE1 AU NM_016641 exon4 c.7475+128A>G 0.434704 0.5407 Uncertain 16_19539467_A->G 16 19539467 19539467 A G snp 157.77 0/1 63 7 2 5 0.71 intronic rs12446804 CCP110 AU NM_001199022 exon2 c.141+123A>G 0.192692 0.1607 Uncertain 16_19543981_G->C 16 19543981 19543981 G C snp 409.77 0/1 99 26 11 15 0.58 intronic rs12927277 CCP110 AU NM_001199022 exon3 c.4663+115G>C 0.155751 0.1577 Uncertain 16_19547747_C->G 16 19547747 19547747 C G snp 2704.77 0/1 99 227 124 103 0.45 exonic rs226891 CCP110 AU nonsynonymous SNV NM_001199022 exon4 c.C756G p.I252M 0.828075 0.7579 0.927582 0.8681 0.7864 0.14 T 0.0 P -0.982 T 0.008 T 0.003 T Pathogenic 16_19548116_G->A 16 19548116 19548116 G A snp 2795.77 0/1 99 248 131 117 0.47 exonic rs7190666 CCP110 AU nonsynonymous SNV NM_001199022 exon4 c.G1125A p.M375I 0.155751 0.1587 0.156789 0.1451 0.1549 0.01 T 0.997 P -1.123 T 0.998 D 0.991 D Pathogenic 16_19548290_G->A 16 19548290 19548290 G A snp 1478.77 0/1 99 105 48 57 0.54 exonic rs7191012 CCP110 AU synonymous SNV NM_001199022 exon4 c.G1299A p.A433A 0.154952 0.1577 0.156996 0.1452 0.1545 Uncertain 16_19556259_AT->- 16 19556259 19556260 AT - indel 1402.73 0/1 99 75 39 36 0.48 intronic rs3841493 CCP110 AU NM_001199022 exon9 c.17017+39_17017+40delAT 0.131989 0.1577 0.128994 0.1385 0.1558 Uncertain 16_19557844_-->A 16 19557844 19557844 - A indel 186.73 0/1 75 18 4 14 0.78 intronic rs112602419 CCP110 AU NM_001199022 exon12 c.18593+48insA 0.158746 0.1597 0.1710 0.1761 Uncertain 16_19580699_A->G 16 19580699 19580699 A G snp 1956.77 0/1 99 180 102 78 0.43 intronic rs121235 C16orf62 AU NM_020314 exon3 c.13961-46A>G 0.458666 0.3978 0.462059 0.3711 0.3940 Uncertain 16_19584332_A->G 16 19584332 19584332 A G snp 31.77 0/1 60 10 8 2 0.2 intronic rs371889 C16orf62 AU NM_020314 exon4 c.17656-108A>G 0.639776 0.7252 Uncertain 16_19586519_G->A 16 19586519 19586519 G A snp 253.77 0/1 99 29 18 11 0.38 intronic rs12925996 C16orf62 AU NM_020314 exon5 c.19660+75G>A 0.178514 0.1577 0.189201 Uncertain 16_19592990_-->C 16 19592990 19592990 - C indel 956.73 0/1 99 101 56 45 0.45 intronic rs397740189 C16orf62 AU NM_020314 exon7 c.26191+15insC 0.29353 0.1935 0.320607 0.2106 0.1792 Uncertain 16_19593163_G->A 16 19593163 19593163 G A snp 236.77 0/1 99 12 4 8 0.67 intronic rs7184710 C16orf62 AU NM_020314 exon7 c.26191+188G>A 0.116813 0.1587 Uncertain 16_19598717_T->C 16 19598717 19598717 T C snp 611.77 0/1 99 61 35 26 0.43 intronic rs226856 C16orf62 AU NM_020314 exon8 c.36327-4394T>C 0.324681 0.1954 0.2262 0.2231 Uncertain 16_19663269_T->C 16 19663269 19663269 T C snp 1775.77 0/1 99 149 75 74 0.5 intronic rs875648 C16orf62 AU NM_020314 exon26 c.96513-28T>C 0.501797 0.3502 0.497383 0.4505 0.4113 Uncertain 16_19680414_C->T 16 19680414 19680414 C T snp 349.77 0/1 99 18 6 12 0.67 intronic rs957675 C16orf62 AU NM_020314 exon27 c.113697-67C>T 0.149161 0.1161 Uncertain 16_19680546_T->C 16 19680546 19680546 T C snp 1856.77 0/1 99 163 82 81 0.5 exonic rs957676 C16orf62 AU synonymous SNV NM_001300743 exon24 c.T2274C p.D758D 0.32488 0.2887 0.344751 0.3387 0.3237 Uncertain 16_19680791_G->A 16 19680791 19680791 G A snp 102.77 0/1 99 12 8 4 0.33 intronic rs61631025 C16orf62 AU NM_020314 exon27 c.113837+170G>A 0.324481 0.2887 Uncertain 16_19680796_A->G 16 19680796 19680796 A G snp 60.77 0/1 89 11 8 3 0.27 intronic rs8064096 C16orf62 AU NM_020314 exon27 c.113837+175A>G 0.32488 0.2887 Uncertain 16_19693729_C->T 16 19693729 19693729 C T snp 568.77 0/1 99 55 30 25 0.45 intronic rs3815036 C16orf62 AU NM_020314 exon28 c.126928+17C>T 0.251597 0.1171 0.300831 0.2675 0.1151 Uncertain 16_19716505_A->G 16 19716505 19716505 A G snp 6782.77 1/1 99 250 0 250 1.0 intergenic rs739565 C16orf62 AU 0.796725 0.8373 0.7345 0.8507 Uncertain 16_19722489_G->A 16 19722489 19722489 G A snp 46.77 0/1 33 4 2 2 0.5 intronic rs118113759 KNOP1 AU NM_001012991 exon3 c.4462-204G>A 0.00259585 0.0109 Uncertain 16_19799962_T->A 16 19799962 19799962 T A snp 267.8 1/1 21 8 0 8 1.0 intronic rs4782283 IQCK AU NM_001305121 exon7 c.55122-197T>A 0.997804 0.996 Uncertain 16_19838260_G->A 16 19838260 19838260 G A snp 463.77 0/1 99 69 47 22 0.32 intronic rs16969203 IQCK AU NM_001305121 exon8 c.93310-87G>A 0.160343 0.245 Uncertain 16_19838302_C->T 16 19838302 19838302 C T snp 1032.77 0/1 99 116 71 45 0.39 intronic rs75971389 IQCK AU NM_001305121 exon8 c.93310-45C>T 0.155751 0.245 0.076189 0.1206 0.2583 Uncertain 16_19838319_G->C 16 19838319 19838319 G C snp 1146.77 0/1 99 138 87 51 0.37 intronic rs79851136 IQCK AU NM_001305121 exon8 c.93310-28G>C 0.159145 0.245 0.080499 0.1223 0.2593 Uncertain 16_19867672_C->G 16 19867672 19867672 C G snp 933.77 0/1 99 107 63 44 0.41 intronic rs6497413 IQCK AU NM_001305121 exon9 c.122771-136C>G 0.157348 0.2421 Uncertain 16_19868687_G->C 16 19868687 19868687 G C snp 479.77 1/1 36 19 0 19 1.0 UTR3 rs2729 IQCK AU 0.98762 1 Uncertain 16_19873107_G->A 16 19873107 19873107 G A snp 85.77 0/1 74 10 4 6 0.6 intronic rs2074427 GPRC5B AU NM_016235 exon2 c.1337-51G>A 0.126797 0.2351 0.054761 Uncertain 16_19883082_A->G 16 19883082 19883082 A G snp 814.77 0/1 99 66 36 30 0.45 intronic rs172907 GPRC5B AU NM_016235 exon3 c.11316-55A>G 0.32488 0.3323 Uncertain 16_19883766_C->T 16 19883766 19883766 C T snp 3293.77 0/1 99 250 117 133 0.53 exonic rs182863834 GPRC5B AU synonymous SNV NM_001304771 exon2 c.G795A p.A265A 0.00259585 0.0129 0.000154 0.0007 0.0086 ID=COSM967951;OCCURENCE=1(endometrium) Uncertain 16_19884285_C->T 16 19884285 19884285 C T snp 383.77 1/1 30 10 0 10 1.0 intronic rs2240047 GPRC5B AU NM_016235 exon3 c.12347+117C>T 0.735423 0.8204 Uncertain 16_20015634_A->G 16 20015634 20015634 A G snp 996.77 1/1 75 25 0 25 1.0 intergenic rs2764782 GPRC5B AU 0.278355 0.2917 Uncertain 16_20043330_T->C 16 20043330 20043330 T C snp 3767.77 1/1 99 136 0 136 1.0 exonic rs2147865 GPR139 AU synonymous SNV NM_001002911 exon2 c.A789G p.V263V 0.517971 0.7827 0.385130 0.3942 0.7890 Uncertain 16_20113706_G->A 16 20113706 20113706 G A snp 441.77 0/1 99 39 21 18 0.46 intergenic rs72774649 GPR139 AU 0.105032 0.2312 Uncertain 16_20322425_T->C 16 20322425 20322425 T C snp 473.77 1/1 36 16 0 16 1.0 UTR3 rs11647569 GP2 AU 0.946685 0.881 Uncertain 16_20322439_A->G 16 20322439 20322439 A G snp 693.77 1/1 51 22 0 22 1.0 UTR3 rs11642182 GP2 AU 0.904952 0.881 Uncertain 16_20327181_C->G 16 20327181 20327181 C G snp 556.77 1/1 42 15 0 15 1.0 intronic rs60257337 GP2 AU NM_001007240 exon3 c.4733-96C>G 0.21905 0.6815 Uncertain 16_20331498_G->C 16 20331498 20331498 G C snp 182.9 1/1 15 5 0 5 1.0 intronic rs36017565 GP2 AU NM_001007240 exon7 c.9039-85G>C 0.454073 0.7837 Uncertain 16_20334679_C->T 16 20334679 20334679 C T snp 3351.77 1/1 99 107 0 107 1.0 intronic rs4411505 GP2 AU NM_001007240 exon9 c.12158-23C>T 0.611222 0.8472 0.513801 0.5734 0.8903 Uncertain 16_20334932_G->A 16 20334932 20334932 G A snp 1668.77 1/1 99 43 0 43 1.0 intronic rs4393582 GP2 AU NM_001007240 exon10 c.12593-205G>A 0.986621 1 Uncertain 16_20339131_T->C 16 20339131 20339131 T C snp 1416.77 1/1 99 46 0 46 1.0 upstream rs4643330 GP2 AU 0.622204 0.8571 0.6504 0.9062 Uncertain 16_20352314_A->- 16 20352314 20352314 A - indel 82.19 1/1 4 8 1 7 0.88 intronic rs560216745 UMOD AU,AD NM_003361 exon5 c.7777-98delA 0.421925 0.4236 Uncertain 16_20360101_G->A 16 20360101 20360101 G A snp 1227.77 0/1 99 96 42 54 0.56 exonic rs7193058 UMOD AU,AD synonymous SNV NM_003361 exon3 c.C522T p.C174C 0.54393 0.3056 0.752426 0.6040 0.3545 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000080093.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 16_20361213_-->A 16 20361213 20361213 - A indel 32.73 0/1 70 24 16 8 0.33 intronic rs34234553 UMOD AU,AD NM_001278614 exon10 c.16556+22insA 0.246006 0.2183 0.2887 0.2384 Uncertain 16_20386115_T->C 16 20386115 20386115 T C snp 2872.77 0/1 99 238 113 125 0.53 intronic rs4522429 PDILT AU NM_174924 exon8 c.15503-28T>C 0.674321 0.3542 0.834384 0.8019 0.3269 Uncertain 16_20386162_G->A 16 20386162 20386162 G A snp 3124.77 0/1 99 250 116 134 0.54 exonic rs78751740 PDILT AU synonymous SNV NM_174924 exon5 c.C663T p.S221S 0.0467252 0.126 0.014532 0.0302 0.1194 Uncertain 16_20410488_G->A 16 20410488 20410488 G A snp 2826.77 0/1 99 250 137 113 0.45 exonic rs7185940 PDILT AU synonymous SNV NM_174924 exon2 c.C135T p.L45L 0.346446 0.1528 0.333538 0.3149 0.1635 Uncertain 16_20410547_C->T 16 20410547 20410547 C T snp 2771.77 0/1 99 238 118 120 0.5 exonic rs9926580 PDILT AU nonsynonymous SNV NM_174924 exon2 c.G76A p.A26T 0.341853 0.1508 0.333231 0.3127 0.1560 0.66 T 0.0 P -0.931 T 0.007 T 0.001 T Pathogenic 16_20410669_A->G 16 20410669 20410669 A G snp 669.77 0/1 99 35 15 20 0.57 intronic rs9928648 PDILT AU NM_174924 exon11 c.39989+40A>G 0.342652 0.1508 0.332590 0.3125 0.1568 Uncertain 16_20422851_C->A 16 20422851 20422851 C A snp 526.77 0/1 99 71 45 26 0.37 exonic rs149756821 ACSM5 AU nonsynonymous SNV NM_017888 exon2 c.C45A p.N15K 0.00519169 0.0238 0.000538 0.0021 0.0199 1 T 1 N -1.029 T 0.0 T 0.0 T Pathogenic 16_20441053_C->G 16 20441053 20441053 C G snp 2588.77 1/1 99 101 0 101 1.0 exonic rs8062344 ACSM5 AU nonsynonymous SNV NM_017888 exon8 c.C1055G p.P352R 0.439097 0.5774 0.401353 0.3238 0.5774 0 D 1.000 P -0.906 T 0.994 D 0.94 D Pathogenic 16_20441084_T->C 16 20441084 20441084 T C snp 1960.77 1/1 99 75 0 75 1.0 exonic rs8063682 ACSM5 AU synonymous SNV NM_017888 exon8 c.T1086C p.T362T 0.542532 0.755 0.435318 0.3702 0.7236 Uncertain 16_20441215_A->G 16 20441215 20441215 A G snp 261.8 1/1 21 7 0 7 1.0 intronic rs8062563 ACSM5 AU NM_017888 exon8 c.18317+92A>G 0.438898 0.5774 Uncertain 16_20448330_A->G 16 20448330 20448330 A G snp 2336.77 1/1 99 80 0 80 1.0 intronic rs11646020 ACSM5 AU NM_017888 exon11 c.25567-43A>G 0.46865 0.7569 0.3498 0.7510 Uncertain 16_20448520_T->C 16 20448520 20448520 T C snp 4740.77 1/1 99 173 0 173 1.0 intronic rs7499667 ACSM5 AU NM_017888 exon11 c.25695+19T>C 0.455871 0.756 0.332001 0.3462 0.7576 Uncertain 16_20448527_T->C 16 20448527 20448527 T C snp 4386.77 1/1 99 164 0 164 1.0 intronic rs7499668 ACSM5 AU NM_017888 exon11 c.25695+26T>C 0.459665 0.756 0.336845 0.3484 0.7588 Uncertain 16_20451054_C->G 16 20451054 20451054 C G snp 232.8 1/1 21 12 0 12 1.0 intronic rs199540360 ACSM5 AU NM_017888 exon13 c.28315-67C>G 0.381989 0.7093 Uncertain 16_20451086_G->T 16 20451086 20451086 G T snp 568.77 0/1 72 29 7 22 0.76 intronic rs112873171 ACSM5 AU NM_017888 exon13 c.28315-35G>T 0.2784 0.4783 Uncertain 16_20471364_T->C 16 20471364 20471364 T C snp 694.77 1/1 51 26 0 26 1.0 intronic rs6497489 ACSM2A AU 0.480831 0.7748 Uncertain 16_20471450_G->A 16 20471450 20471450 G A snp 2561.77 1/1 99 94 4 90 0.96 exonic rs59292608 ACSM2A AU nonsynonymous SNV NM_001010845 exon3 c.G14A p.R5Q 0.169529 0.4018 0.108335 0.1565 0.3822 0.33 T 0.0 P -0.996 T 0.762 T 0.141 P Pathogenic 16_20476852_T->C 16 20476852 20476852 T C snp 2110.77 0/1 99 119 37 82 0.69 exonic rs7187246 ACSM2A AU nonsynonymous SNV NM_001010845 exon4 c.T191C p.L64P 0.505591 0.753 0.386668 0.3401 0.6926 1 T 0.0 P -0.947 T 0.0 T 0.0 T Pathogenic 16_20476995_G->A 16 20476995 20476995 G A snp 92.77 0/1 99 210 157 53 0.25 exonic rs62035041 ACSM2A AU nonsynonymous SNV NM_001010845 exon4 c.G334A p.V112M 0.0022 0.0001 0.73 T 0.846 D -1.000 T 0.959 D 0.692 D Pathogenic 16_20477163_G->C 16 20477163 20477163 G C snp 508.77 1/1 39 13 0 13 1.0 intronic rs7186805 ACSM2A AU NM_001010845 exon4 c.5613+114G>C 0.51258 0.7758 Uncertain 16_20477165_A->C 16 20477165 20477165 A C snp 505.77 1/1 39 13 0 13 1.0 intronic rs7186307 ACSM2A AU NM_001010845 exon4 c.5613+116A>C 0.51258 0.7758 Uncertain 16_20480818_T->C 16 20480818 20480818 T C snp 3764.77 1/1 99 152 13 139 0.91 intronic rs28615302 ACSM2A AU NM_001010845 exon5 c.9397-15T>C 0.482827 0.7738 0.351838 0.3616 0.7833 Uncertain 16_20482368_A->G 16 20482368 20482368 A G snp 461.77 1/1 36 18 0 18 1.0 intronic rs1827711 ACSM2A AU NM_001010845 exon6 c.10958-26A>G 0.515176 0.7758 0.383977 0.3710 0.7834 Uncertain 16_20482623_G->T 16 20482623 20482623 G T snp 3672.77 1/1 99 127 2 125 0.98 intronic rs2271060 ACSM2A AU NM_001010845 exon6 c.11102+85G>T 0.517173 0.7758 Uncertain 16_20482751_A->G 16 20482751 20482751 A G snp 743.77 1/1 57 22 0 22 1.0 intronic rs2271061 ACSM2A AU NM_001010845 exon7 c.11421-106A>G 0.516773 0.7758 Uncertain 16_20487125_T->G 16 20487125 20487125 T G snp 1534.77 1/1 99 45 0 45 1.0 intronic rs1629314 ACSM2A AU NM_001010845 exon9 c.15659+30T>G 0.48143 0.7758 0.351376 0.3573 0.7825 Uncertain 16_20488696_A->G 16 20488696 20488696 A G snp 4091.77 1/1 99 250 43 207 0.83 exonic rs1700805 ACSM2A AU synonymous SNV NM_001010845 exon10 c.A1104G p.L368L 0.484824 0.7748 0.359688 0.3646 0.7810 Uncertain 16_20492000_A->G 16 20492000 20492000 A G snp 2890.77 1/1 99 174 0 174 1.0 exonic rs146233716 ACSM2A AU nonsynonymous SNV NM_001010845 exon12 c.A1387G p.N463D 0.826278 0.7907 0.1311 0.1100 1 T 1.000 P -0.951 T 0.0 T 0.0 T Pathogenic 16_20492304_A->T 16 20492304 20492304 A T snp 761.77 1/1 57 21 0 21 1.0 intronic rs1700809 ACSM2A AU NM_001010845 exon13 c.20807+61A>T 0.508986 0.7917 0.3215 0.7446 Uncertain 16_20492307_G->A 16 20492307 20492307 G A snp 636.77 1/1 48 17 0 17 1.0 intronic rs1700810 ACSM2A AU NM_001010845 exon13 c.20807+64G>A 0.508986 0.7917 0.2999 0.7095 Uncertain 16_20492316_C->T 16 20492316 20492316 C T snp 460.77 1/1 36 12 0 12 1.0 intronic rs1617049 ACSM2A AU NM_001010845 exon13 c.20807+73C>T 0.513179 0.7917 Uncertain 16_20497775_G->C 16 20497775 20497775 G C snp 40.77 0/1 31 3 1 2 0.67 intronic rs4783532 ACSM2A AU NM_001010845 exon15 c.26459-120G>C 0.472045 0.2073 Uncertain 16_20498079_T->G 16 20498079 20498079 T G snp 730.77 0/1 99 72 39 33 0.46 UTR3 rs2072080 ACSM2A AU 0.794928 0.5744 Uncertain 16_20551855_A->G 16 20551855 20551855 A G snp 74.77 0/1 99 8 5 3 0.38 intronic rs28750179 ACSM2B AU NM_001105069 exon2 c.3396-120A>G 0.834065 0.6131 Uncertain 16_20552075_G->T 16 20552075 20552075 G T snp 1275.77 0/1 99 135 79 56 0.41 exonic rs16970280 ACSM2B AU synonymous SNV NM_182617 exon14 c.C1530A p.I510I 0.70607 0.4187 0.814749 0.7775 0.4421 Uncertain 16_20554392_G->A 16 20554392 20554392 G A snp 332.77 0/1 99 250 189 61 0.24 intronic rs12934341 ACSM2B AU NM_001105069 exon3 c.5756+57G>A Uncertain 16_20554613_G->A 16 20554613 20554613 G A snp 1896.77 0/1 99 172 92 80 0.47 intronic rs2285630 ACSM2B AU NM_001105069 exon4 c.6005+29G>A 0.257588 0.5853 0.163712 0.2310 0.5713 Uncertain 16_20557688_T->C 16 20557688 20557688 T C snp 1309.77 0/1 99 162 92 70 0.43 intronic rs12927522 ACSM2B AU NM_001105069 exon6 c.9136-27T>C 0.277356 0.6597 0.165949 0.2444 0.6649 Uncertain 16_20565396_C->T 16 20565396 20565396 C T snp 212.77 0/1 99 15 6 9 0.6 intronic rs6497500 ACSM2B AU NM_001105069 exon10 c.16663+154C>T 0.501398 0.8472 Uncertain 16_20565585_G->A 16 20565585 20565585 G A snp 609.77 0/1 99 69 42 27 0.39 intronic rs6497501 ACSM2B AU NM_001105069 exon10 c.16663+343G>A 0.528155 0.8522 Uncertain 16_20570466_A->G 16 20570466 20570466 A G snp 192.77 0/1 99 27 17 10 0.37 intronic rs28712600 ACSM2B AU NM_001105069 exon12 c.21979-92A>G 0.519569 0.8532 Uncertain 16_20570661_T->C 16 20570661 20570661 T C snp 1272.77 1/1 99 68 0 68 1.0 exonic rs8056693 ACSM2B AU nonsynonymous SNV NM_182617 exon4 c.A286G p.I96V 0.953474 1 0.9603 0.9992 1 T 0.000 P -0.958 T 0.0 T 0.001 T Pathogenic 16_20576048_C->A 16 20576048 20576048 C A snp 3111.77 0/1 99 249 112 137 0.55 exonic rs112352583 ACSM2B AU synonymous SNV NM_182617 exon3 c.G120T p.V40V 0.265176 0.6845 0.147969 0.2365 0.6657 Uncertain 16_20576267_T->C 16 20576267 20576267 T C snp 303.77 0/1 99 30 19 11 0.37 intronic rs12920996 ACSM2B AU NM_001105069 exon13 c.27596+92T>C 0.238618 0.5685 Uncertain 16_20576319_T->A 16 20576319 20576319 T A snp 40.77 0/1 69 6 3 3 0.5 intronic rs10852242 ACSM2B AU NM_001105069 exon13 c.27596+144T>A 0.501597 0.8472 Uncertain 16_20599347_A->G 16 20599347 20599347 A G snp 266.77 0/1 99 67 42 25 0.37 intergenic rs117305368 ACSM2B AU 0.443091 0.8452 Uncertain 16_20599444_C->A 16 20599444 20599444 C A snp 97.77 0/1 99 56 34 22 0.39 intergenic rs201279014 ACSM2B AU Uncertain 16_20599486_G->A 16 20599486 20599486 G A snp 144.77 0/1 99 34 26 8 0.24 intergenic rs11643396 ACSM2B AU Uncertain 16_20599530_T->G 16 20599530 20599530 T G snp 36.77 0/1 65 8 6 2 0.25 intergenic rs11648828 ACSM2B AU 0.245008 0.5873 Uncertain 16_20602082_T->A 16 20602082 20602082 T A snp 1733.77 0/1 99 114 49 65 0.57 intergenic rs7498598 ACSM2B AU 0.460064 0.8512 Uncertain 16_20602163_A->G 16 20602163 20602163 A G snp 1043.77 0/1 99 84 43 41 0.49 intergenic rs28669334 ACSM2B AU 0.43111 0.7966 Uncertain 16_20602287_A->G 16 20602287 20602287 A G snp 145.77 0/1 99 12 7 5 0.42 intergenic rs28736286 ACSM2B AU 0.599241 0.8522 Uncertain 16_20603781_CCAGCAGC->- 16 20603781 20603788 CCAGCAGC - indel 946.73 0/1 99 14 4 10 0.71 intergenic rs112080529 ACSM2B AU 0.438299 0.8522 Uncertain 16_20605328_C->T 16 20605328 20605328 C T snp 282.77 0/1 99 34 21 13 0.38 intergenic rs11074464 ACSM2B AU 0.457069 0.8175 Uncertain 16_20635418_C->T 16 20635418 20635418 C T snp 1613.77 1/1 99 48 0 48 1.0 exonic rs3743690 ACSM1 AU synonymous SNV NM_052956 exon12 c.G1647A p.K549K 0.183706 0.499 0.097216 0.1528 0.4767 1.0 P -0.863 T Likely benign 16_20636814_G->A 16 20636814 20636814 G A snp 6919.77 1/1 99 234 0 234 1.0 exonic rs2301672 ACSM1 AU synonymous SNV NM_052956 exon11 c.C1458T p.S486S 0.180312 0.499 0.094678 0.1525 0.4755 1.000 P -1.138 T Likely benign 16_20638576_A->T 16 20638576 20638576 A T snp 2659.77 1/1 99 97 0 97 1.0 exonic rs1692729 ACSM1 AU synonymous SNV NM_052956 exon10 c.T1362A p.G454G 0.605831 0.8512 0.462929 0.4388 0.8475 0.000 P -1.082 T Likely benign 16_20652023_T->C 16 20652023 20652023 T C snp 338.78 1/1 27 9 0 9 1.0 intronic rs163234 ACSM1 AU NM_052956 exon7 c.17099+117T>C 0.605831 0.8512 Uncertain 16_20750133_G->A 16 20750133 20750133 G A snp 303.78 1/1 24 8 0 8 1.0 intronic rs2301769 THUMPD1 AU NM_001304550 exon4 c.2017-85G>A 0.193091 0.4226 Uncertain 16_20753123_T->C 16 20753123 20753123 T C snp 6886.77 1/1 99 250 0 250 1.0 UTR5 rs234271 THUMPD1 AU 0.999401 1 0.9989 1 0 D 0.0 P -0.979 T Uncertain 16_20803250_A->- 16 20803250 20803250 A - indel 41.73 0/1 79 34 25 9 0.26 intronic rs755353923 ACSM3 AU NM_005622 exon11 c.21967-73delA Uncertain 16_20827648_T->- 16 20827648 20827648 T - indel 453.73 1/1 42 38 1 37 0.97 intronic rs398028971 LOC81691 AU NM_001199053 exon5 c.9259+114delT 0.742812 0.7718 Uncertain 16_20855309_A->G 16 20855309 20855309 A G snp 2122.77 1/1 99 80 0 80 1.0 exonic rs9929443 LOC81691 AU synonymous SNV NM_001199053 exon16 c.A1680G p.E560E 0.824281 0.8671 0.832487 0.8795 0.8752 Uncertain 16_21030897_T->C 16 21030897 21030897 T C snp 2315.77 1/1 99 69 0 69 1.0 intronic rs3095922 DNAH3 AU NM_017539 exon22 c.86470-48T>C 0.999401 0.997 0.9999 0.9994 Uncertain 16_21071388_C->T 16 21071388 21071388 C T snp 180.77 0/1 99 10 4 6 0.6 intronic rs858203 DNAH3 AU NM_017539 exon37 c.127109-196C>T 0.264577 0.4573 Uncertain 16_21071404_G->A 16 21071404 21071404 G A snp 256.77 0/1 99 16 7 9 0.56 intronic rs858204 DNAH3 AU NM_017539 exon37 c.127109-180G>A 0.264577 0.4573 Uncertain 16_21071499_G->A 16 21071499 21071499 G A snp 1309.77 0/1 99 113 56 57 0.5 intronic rs858205 DNAH3 AU NM_017539 exon37 c.127109-85G>A 0.264577 0.4573 Uncertain 16_21078693_T->G 16 21078693 21078693 T G snp 908.77 0/1 99 96 55 41 0.43 exonic rs861424 DNAH3 AU synonymous SNV NM_017539 exon24 c.A3429C p.A1143A 0.444489 0.6766 0.409168 0.4390 0.6667 Uncertain 16_21082168_C->T 16 21082168 21082168 C T snp 845.77 0/1 99 60 30 30 0.5 intronic rs704554 DNAH3 AU NM_017539 exon41 c.137672+21C>T 0.259185 0.4623 0.203738 0.2208 0.4414 Uncertain 16_21109775_A->G 16 21109775 21109775 A G snp 156.77 0/1 99 8 3 5 0.63 intronic rs202191965 DNAH3 AU NM_017539 exon46 c.165461-161A>G Uncertain 16_21116051_T->C 16 21116051 21116051 T C snp 460.77 0/1 99 23 6 17 0.74 intronic rs11074481 DNAH3 AU NM_017539 exon47 c.171398+178T>C 0.289337 0.2946 Uncertain 16_21132298_T->C 16 21132298 21132298 T C snp 1752.77 0/1 99 122 51 71 0.58 intronic rs13330317 DNAH3 AU NM_017539 exon52 c.187700+123T>C 0.290136 0.2946 0.2967 0.3230 0 D 0.0 P -0.994 T Uncertain 16_21132338_T->C 16 21132338 21132338 T C snp 1163.77 0/1 99 90 41 49 0.54 intronic rs16970914 DNAH3 AU NM_017539 exon52 c.187700+163T>C 0.0547125 0.1548 0.0457 0.1658 Uncertain 16_21136477_A->G 16 21136477 21136477 A G snp 2840.77 1/1 99 98 0 98 1.0 intronic rs7191215 DNAH3 AU NM_017539 exon54 c.192020-18A>G 0.984824 1 0.974696 0.9727 0.9999 Uncertain 16_21145648_C->T 16 21145648 21145648 C T snp 1711.77 0/1 99 140 71 69 0.49 exonic rs11074483 DNAH3 AU synonymous SNV NM_017539 exon7 c.G1014A p.K338K 0.2498 0.2946 0.231887 0.2615 0.3045 Uncertain 16_21145657_G->A 16 21145657 21145657 G A snp 1824.77 0/1 99 152 75 77 0.51 exonic rs16970950 DNAH3 AU synonymous SNV NM_017539 exon7 c.C1005T p.S335S 0.0844649 0.1657 0.058683 0.0560 0.1858 Uncertain 16_21147885_T->C 16 21147885 21147885 T C snp 1913.77 0/1 99 150 77 73 0.49 intronic rs3743698 DNAH3 AU NM_017539 exon57 c.203359+51T>C 0.2498 0.2946 0.231810 0.2617 0.3047 Uncertain 16_21147999_A->G 16 21147999 21147999 A G snp 691.77 0/1 99 57 31 26 0.46 intronic rs730260 DNAH3 AU NM_017539 exon57 c.203359+165A>G 0.25 0.2946 Uncertain 16_21151980_T->C 16 21151980 21151980 T C snp 1530.77 0/1 99 121 56 65 0.54 exonic rs8061600 DNAH3 AU synonymous SNV NM_017539 exon5 c.A573G p.V191V 0.0557109 0.1548 0.030995 0.0470 0.1814 Uncertain 16_21152073_C->T 16 21152073 21152073 C T snp 739.77 0/1 99 53 27 26 0.49 intronic rs7202719 DNAH3 AU NM_017539 exon58 c.207556+42C>T 0.540335 0.7024 0.447931 0.4564 0.6886 Uncertain 16_21152074_A->G 16 21152074 21152074 A G snp 701.77 0/1 99 51 27 24 0.47 intronic rs7202568 DNAH3 AU NM_017539 exon58 c.207556+43A>G 0.540335 0.7024 0.448469 0.4562 0.6886 Uncertain 16_21152808_G->A 16 21152808 21152808 G A snp 243.77 0/1 99 22 13 9 0.41 intronic rs80032006 DNAH3 AU NM_017539 exon59 c.208218+115G>A 0.0545128 0.1538 Uncertain 16_21156829_G->A 16 21156829 21156829 G A snp 120.77 0/1 99 23 18 5 0.22 intronic rs6497538 DNAH3 AU NM_017539 exon60 c.212252+102G>A 0.504593 0.7024 Uncertain 16_21157443_A->T 16 21157443 21157443 A T snp 1653.77 0/1 99 159 84 75 0.47 intronic rs79754380 DNAH3 AU NM_017539 exon61 c.212934+34A>T 0.0547125 0.1548 0.029226 0.0471 0.1841 Uncertain 16_21161559_T->A 16 21161559 21161559 T A snp 196.77 0/1 99 16 8 8 0.5 intronic rs11074487 DNAH3 AU NM_017539 exon61 c.212934+4150T>A 0.56889 0.7133 Uncertain 16_21161559_-->A 16 21161559 21161559 - A indel 242.73 1/1 39 16 1 15 0.94 intronic rs397692995 DNAH3 AU NM_017539 exon61 c.212934+4150insA 0.484225 0.7103 Uncertain 16_21190853_A->C 16 21190853 21190853 A C snp 4200.77 1/1 99 145 2 143 0.99 exonic rs1063087 TMEM159 AU nonsynonymous SNV NM_001301771 exon5 c.A462C p.E154D 0.898762 0.999 0.803385 0.8086 0.9991 1 T 0.0 P -0.998 T 0.0 T 0.0 T Pathogenic 16_21209981_C->T 16 21209981 21209981 C T snp 384.77 0/1 99 24 10 14 0.58 intronic rs62033379 ZP2 AU NM_001290104 exon3 c.1299-118C>T 0.355032 0.504 Uncertain 16_21210006_C->T 16 21210006 21210006 C T snp 1057.77 1/1 75 37 0 37 1.0 intronic rs7189430 ZP2 AU NM_001290104 exon3 c.1299-93C>T 0.722045 0.8929 Uncertain 16_21210312_C->T 16 21210312 21210312 C T snp 320.77 0/1 99 27 13 14 0.52 intronic rs16971210 ZP2 AU NM_001290104 exon3 c.1383+129C>T 0.24361 0.3839 Uncertain 16_21217061_G->A 16 21217061 21217061 G A snp 5552.77 1/1 99 190 0 190 1.0 exonic rs16971234 ZP2 AU synonymous SNV NM_001290104 exon7 c.C519T p.D173D 0.283147 0.4157 0.189875 0.1975 0.4182 Uncertain 16_21217357_C->T 16 21217357 21217357 C T snp 90.28 1/1 9 3 0 3 1.0 intronic rs28419052 ZP2 AU NM_001290104 exon14 c.8296+261C>T 0.281949 0.4157 Uncertain 16_21222672_C->A 16 21222672 21222672 C A snp 3228.29 1/1 99 118 1 117 0.99 exonic rs2075520 ZP2 AU nonsynonymous SNV NM_001290104 exon3 c.G107T p.G36V 0.448083 0.4444 0.390445 0.3537 0.4476 1 T 0.000 P -0.955 T 0.0 T 0.0 T Pathogenic 16_21327273_G->A 16 21327273 21327273 G A snp 502.77 0/1 32 24 2 22 0.92 ncRNA_exonic rs12446322 CRYM-AS1 AU 0.115615 0.3998 0.039631 0.0763 0.3970 Uncertain 16_21388110_T->C 16 21388110 21388110 T C snp 770.77 0/1 99 81 39 42 0.52 ncRNA_exonic rs2686119 SNX29P1 AU 0.411542 0.2063 0.5731 0.2396 Uncertain 16_21397273_-->TG 16 21397273 21397273 - TG indel 1431.73 0/1 99 61 16 45 0.74 downstream rs372067201 SNX29P1 AU 0.438898 0.4821 0.4113 0.4426 Uncertain 16_21531133_C->G 16 21531133 21531133 C G snp 762.77 0/1 99 126 86 40 0.32 ncRNA_exonic rs518428 SLC7A5P2 AU 0.0626 0.3208 Uncertain 16_21531154_G->C 16 21531154 21531154 G C snp 689.77 0/1 99 101 64 37 0.37 ncRNA_exonic rs517733 SLC7A5P2 AU 0.0630 0.3012 Uncertain 16_21531457_T->C 16 21531457 21531457 T C snp 439.77 0/1 99 140 110 30 0.21 ncRNA_exonic rs12447755 SLC7A5P2 AU 0.0517 0.2575 Uncertain 16_21531473_G->A 16 21531473 21531473 G A snp 433.77 0/1 99 144 116 28 0.19 ncRNA_exonic rs514970 SLC7A5P2 AU 0.0512 0.2549 Uncertain 16_21531494_T->C 16 21531494 21531494 T C snp 3631.77 1/1 99 140 0 140 1.0 ncRNA_exonic rs42138 SLC7A5P2 AU 0.7980 0.8831 Uncertain 16_21531609_C->T 16 21531609 21531609 C T snp 1126.77 0/1 99 52 15 37 0.71 ncRNA_exonic rs42139 SLC7A5P2 AU 0.5074 0.5572 Uncertain 16_21531681_C->G 16 21531681 21531681 C G snp 412.77 0/1 99 25 10 15 0.6 ncRNA_exonic rs42140 SLC7A5P2 AU 0.4836 0.4877 Uncertain 16_21544210_T->A 16 21544210 21544210 T A snp 500.77 0/1 99 61 40 21 0.34 intergenic rs662475 SLC7A5P2 AU Uncertain 16_21548038_A->G 16 21548038 21548038 A G snp 274.77 0/1 99 40 28 12 0.3 intergenic rs200389100 SLC7A5P2 AU Uncertain 16_21548095_G->A 16 21548095 21548095 G A snp 508.77 0/1 99 79 55 24 0.3 intergenic rs550939 SLC7A5P2 AU Uncertain 16_21608472_G->A 16 21608472 21608472 G A snp 806.77 1/1 60 22 0 22 1.0 ncRNA_intronic rs194548 LOC101927814 AU 0.573682 0.5208 Uncertain 16_21636500_G->C 16 21636500 21636500 G C snp 1028.77 1/1 75 34 0 34 1.0 intronic rs2305520 METTL9 AU NM_016025 exon4 c.25382+64G>C 0.0720847 0.2381 0.0485 0.2756 Uncertain 16_21652720_A->G 16 21652720 21652720 A G snp 169.9 1/1 15 5 0 5 1.0 UTR3 rs1055740 IGSF6 AU 0.861022 0.7411 Uncertain 16_21654369_A->T 16 21654369 21654369 A T snp 551.77 1/1 42 20 0 20 1.0 intronic rs1454372 IGSF6 AU NM_005849 exon2 c.1540-25A>T 0.0966454 0.2629 0.037787 0.0875 0.2974 Uncertain 16_21658389_G->A 16 21658389 21658389 G A snp 4693.77 1/1 99 175 0 175 1.0 intronic rs1454373 IGSF6 AU NM_005849 exon5 c.5599-64G>A 0.0970447 0.2649 0.0847 0.2931 Uncertain 16_21663795_G->A 16 21663795 21663795 G A snp 2472.77 1/1 99 79 0 79 1.0 intronic rs3091402 IGSF6 AU NM_005849 exon6 c.10998-57G>A 0.119808 0.2639 0.071835 Uncertain 16_21689775_G->A 16 21689775 21689775 G A snp 74.77 0/1 63 5 2 3 0.6 upstream rs77996753 OTOA AR 0.105831 0.2252 Uncertain 16_21689879_T->A 16 21689879 21689879 T A snp 1384.77 0/1 99 90 31 59 0.66 exonic rs78970023 OTOA AR nonsynonymous SNV NM_144672 exon1 c.T44A p.F15Y 0.103035 0.2252 0.033697 0.0624 0.2580 0.03 T 1.000 P -1.072 T 0.779 T 0.346 P CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000041226.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 16_21690559_G->A 16 21690559 21690559 G A snp 691.77 0/1 99 52 24 28 0.54 intronic rs12445216 OTOA AR NM_144672 exon4 c.697+27G>A 0.244409 0.2907 0.184247 0.1527 0.3225 Uncertain 16_21730449_C->T 16 21730449 21730449 C T snp 665.77 0/1 99 42 15 27 0.64 splicing rs215901 OTOA AR NM_170664 exon6 c.14103-4C>T 0.576677 0.5069 0.641099 0.6320 0.5065 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000041224.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 16_21739430_T->C 16 21739430 21739430 T C snp 608.77 0/1 99 44 24 20 0.45 intronic rs4408531 OTOA AR NM_170664 exon10 c.23211-131T>C 0.371406 0.4444 Uncertain 16_21742188_G->A 16 21742188 21742188 G A snp 1007.77 0/1 99 202 138 64 0.32 exonic rs76494517 OTOA AR synonymous SNV NM_144672 exon20 c.G2238A p.T746T 0.003246 0.0562 0.2925 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000041225.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 16_21747556_C->T 16 21747556 21747556 C T snp 746.77 0/1 99 72 42 30 0.42 intronic rs56065183 OTOA AR NM_170664 exon12 c.31231-25C>T 0.363219 0.4276 0.4054 0.3957 Uncertain 16_21747633_A->C 16 21747633 21747633 A C snp 457.77 0/1 99 165 141 24 0.15 exonic rs464696 OTOA AR nonsynonymous SNV NM_144672 exon21 c.A2353C p.T785P 0.0017 0.0127 0.88 T 1 N -1.000 T 0.0 T 0.0 T Pathogenic 16_21747639_G->T 16 21747639 21747639 G T snp 481.77 0/1 99 173 145 28 0.16 exonic rs200988634 OTOA AR stopgain NM_144672 exon21 c.G2359T p.E787X 0.0012 0.0109 0.32 T 1 A Pathogenic 16_21747662_G->A 16 21747662 21747662 G A snp 546.77 0/1 99 185 150 35 0.19 exonic rs143890524 OTOA AR synonymous SNV NM_144672 exon21 c.G2382A p.Q794Q 0.000616 0.0396 0.2159 Uncertain 16_21747777_G->A 16 21747777 21747777 G A snp 924.77 0/1 99 121 81 40 0.33 intronic rs78674493 OTOA AR NM_170664 exon12 c.31361+66G>A Uncertain 16_21747871_T->G 16 21747871 21747871 T G snp 52.77 0/1 81 14 11 3 0.21 intronic OTOA AR NM_170664 exon12 c.31361+160T>G Uncertain 16_21771645_A->G 16 21771645 21771645 A G snp 46.77 0/1 75 8 5 3 0.38 intronic rs62045991 OTOA AR NM_170664 exon19 c.55440-145A>G Uncertain 16_21771908_A->G 16 21771908 21771908 A G snp 236.77 0/1 99 34 22 12 0.35 UTR3 rs460598 OTOA AR 0.387181 0.4861 0.147068 0.1518 0.1797 Uncertain 16_21809188_-->A 16 21809188 21809188 - A indel 169.73 0/1 99 37 20 17 0.46 ncRNA_intronic rs775040374 RRN3P1 AU 0.1179 0.2588 Uncertain 16_21970546_T->C 16 21970546 21970546 T C snp 721.77 0/1 99 61 27 34 0.56 intronic rs2967178 UQCRC2 AR NM_003366 exon4 c.5176+626T>C 0.8748 0.5377 Uncertain 16_21983136_T->C 16 21983136 21983136 T C snp 298.78 1/1 24 8 0 8 1.0 intronic rs2967156 UQCRC2 AR NM_003366 exon10 c.18499-107T>C 0.990815 0.9613 Uncertain 16_21992122_T->C 16 21992122 21992122 T C snp 354.78 1/1 27 11 0 11 1.0 intronic rs2965803 UQCRC2 AR NM_003366 exon13 c.27277+101T>C 0.992013 0.9663 Uncertain 16_21994642_C->G 16 21994642 21994642 C G snp 120.77 0/1 64 6 2 4 0.67 UTR3 UQCRC2 AR Uncertain 16_22012147_ATG->- 16 22012147 22012149 ATG - indel 245.73 0/1 99 19 12 7 0.37 intronic rs10611346 PDZD9 AU NM_173806 exon3 c.16750-190_16750-188delATG 0.467053 0.3591 Uncertain 16_22019647_G->- 16 22019647 22019647 G - indel 422.73 0/1 99 40 26 14 0.35 exonic rs201044196 C16orf52 AU frameshift deletion NM_001164579 exon1 c.25delG p.G9fs 0.128195 0.1657 0.099937 0.1440 0.2183 Pathogenic 16_22094860_A->T 16 22094860 22094860 A T snp 226.77 0/1 99 15 4 11 0.73 UTR3 rs2287964 C16orf52 AU 0.128395 0.4504 Uncertain 16_22111704_G->A 16 22111704 22111704 G A snp 1343.77 0/1 99 153 97 56 0.37 intronic rs72640484 VWA3A AU NM_173615 exon5 c.7778-32G>A 0.103235 0.4325 0.006570 0.0313 0.3842 Uncertain 16_22128052_T->G 16 22128052 22128052 T G snp 1966.77 0/1 99 182 98 84 0.46 intronic rs11649656 VWA3A AU NM_173615 exon10 c.24121-27T>G 0.956669 0.8512 0.998482 0.9685 0.8249 Uncertain 16_22128053_T->C 16 22128053 22128053 T C snp 1997.77 0/1 99 184 99 85 0.46 intronic rs11649657 VWA3A AU NM_173615 exon10 c.24121-26T>C 0.956669 0.8512 0.998483 0.9684 0.8243 Uncertain 16_22144318_C->T 16 22144318 22144318 C T snp 2475.77 0/1 99 215 117 98 0.46 exonic rs1105929 VWA3A AU nonsynonymous SNV NM_173615 exon20 c.C1970T p.T657I 0.599042 0.7788 0.411985 0.4011 0.7532 0.54 T 0.0 P -0.993 T 0.002 T 0.01 T Pathogenic 16_22144578_A->C 16 22144578 22144578 A C snp 510.77 0/1 99 36 18 18 0.5 intronic rs1105928 VWA3A AU NM_173615 exon20 c.40458+162A>C 0.682109 0.8591 Uncertain 16_22155629_A->G 16 22155629 22155629 A G snp 1305.77 0/1 99 135 75 60 0.44 exonic rs9937453 VWA3A AU nonsynonymous SNV NM_173615 exon26 c.A2654G p.N885S 0.371805 0.5982 0.256868 0.2350 0.5403 0.65 T 1.000 P -0.938 T 0.007 T 0.001 T Pathogenic 16_22159798_T->G 16 22159798 22159798 T G snp 40.77 0/1 69 5 3 2 0.4 intronic rs11642222 VWA3A AU NM_173615 exon28 c.55669+171T>G 0.538938 0.5536 Uncertain 16_22161136_T->C 16 22161136 22161136 T C snp 965.77 0/1 99 85 38 47 0.55 exonic rs1991020 VWA3A AU nonsynonymous SNV NM_173615 exon29 c.T3013C p.F1005L 0.964257 0.8829 0.998204 0.9705 0.8582 0.56 T 0.0 P -1.039 T 0.0 T 0.0 T Pathogenic 16_22178256_G->A 16 22178256 22178256 G A snp 945.77 0/1 99 110 69 41 0.37 intergenic rs6497575 VWA3A AU 0.651757 0.879 0.5605 0.825 Uncertain 16_22178492_T->G 16 22178492 22178492 T G snp 35.77 0/1 64 6 4 2 0.33 intergenic rs8060335 VWA3A AU Uncertain 16_22192784_G->A 16 22192784 22192784 G A snp 1331.77 0/1 99 102 49 53 0.52 intergenic rs55969568 VWA3A AU 0.385982 0.5992 Uncertain 16_22255898_C->T 16 22255898 22255898 C T snp 1953.77 0/1 99 141 68 73 0.52 intronic rs2303188 EEF2K AU NM_013302 exon3 c.18900-52C>T 0.220248 0.5248 Uncertain 16_22261900_G->A 16 22261900 22261900 G A snp 976.77 0/1 99 100 51 49 0.49 intronic rs2303187 EEF2K AU NM_013302 exon5 c.24924-74G>A 0.489018 0.88 0.330267 Uncertain 16_22262514_C->A 16 22262514 22262514 C A snp 2328.77 0/1 99 188 87 101 0.54 exonic rs2303186 EEF2K AU synonymous SNV NM_013302 exon6 c.C489A p.G163G 0.521765 0.8899 0.367016 0.3754 0.8745 Uncertain 16_22269867_A->G 16 22269867 22269867 A G snp 4897.77 1/1 99 185 0 185 1.0 exonic rs4783453 EEF2K AU nonsynonymous SNV NM_013302 exon10 c.A1082G p.Q361R 0.999601 1 0.999846 0.9999 1 1 T 0.0 P -0.945 T 0.0 T 0.0 T Pathogenic 16_22328094_G->T 16 22328094 22328094 G T snp 1199.77 0/1 99 84 30 54 0.64 intronic rs2290830 POLR3E AU NM_001258034 exon9 c.13718+87G>T 0.313898 0.1032 Uncertain 16_22360385_A->G 16 22360385 22360385 A G snp 93.28 1/1 9 3 0 3 1.0 intronic rs4238735 CDR2 AU NM_001802 exon2 c.2314-214A>G 0.965655 0.998 Uncertain 16_22564004_A->G 16 22564004 22564004 A G snp 109.77 0/1 99 18 13 5 0.28 ncRNA_intronic rs370521870 LOC653786 AU Uncertain 16_22579696_T->C 16 22579696 22579696 T C snp 223.77 0/1 99 15 7 8 0.53 ncRNA_intronic rs76082485 LOC653786 AU Uncertain 16_22579727_TGTA->- 16 22579727 22579730 TGTA - indel 553.73 0/1 99 41 29 12 0.29 ncRNA_intronic LOC653786 AU Uncertain 16_22580611_T->G 16 22580611 22580611 T G snp 155.77 0/1 99 190 158 32 0.17 ncRNA_intronic rs200617466 LOC653786 AU 0.2398 0.3223 Uncertain 16_22587764_C->T 16 22587764 22587764 C T snp 157.78 0/1 24 6 1 5 0.83 ncRNA_intronic rs57902929 LOC653786 AU Uncertain 16_22588118_G->A 16 22588118 22588118 G A snp 101.77 0/1 99 13 9 4 0.31 ncRNA_exonic rs460429 LOC653786 AU Uncertain 16_22844319_C->T 16 22844319 22844319 C T snp 75.77 0/1 99 6 3 3 0.5 intronic rs71378485 HS3ST2 AU NM_006043 exon1 c.485+17903C>T 0.132188 0.1151 Uncertain 16_22844383_G->C 16 22844383 22844383 G C snp 649.77 0/1 99 51 25 26 0.51 intronic rs71378486 HS3ST2 AU NM_006043 exon1 c.485+17967G>C 0.132788 0.1171 Uncertain 16_22926511_A->G 16 22926511 22926511 A G snp 3073.77 0/1 99 250 128 122 0.49 exonic rs35682499 HS3ST2 AU synonymous SNV NM_006043 exon2 c.A732G p.S244S 0.124201 0.001 0.180160 0.1190 0.0007 ID=COSM84334;OCCURENCE=1(pancreas) Uncertain 16_22926956_G->T 16 22926956 22926956 G T snp 93.77 0/1 99 15 11 4 0.27 UTR3 rs8063925 HS3ST2 AU 0.123003 0.001 Uncertain 16_23079353_T->C 16 23079353 23079353 T C snp 1143.77 1/1 84 33 0 33 1.0 UTR3 rs8047644 USP31 AU 0.889177 0.9335 0.936355 0.8835 0.9134 Uncertain 16_23221183_A->G 16 23221183 23221183 A G snp 6684.77 1/1 99 245 0 245 1.0 intronic rs5740 SCNN1G AR,AD NM_001039 exon7 c.23577+14A>G 0.783746 0.872 0.755118 0.8106 0.8814 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000151823.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 16_23221238_A->G 16 23221238 23221238 A G snp 4802.77 1/1 99 170 0 170 1.0 intronic rs4281710 SCNN1G AR,AD NM_001039 exon7 c.23577+69A>G 0.783946 0.873 Uncertain 16_23360199_T->C 16 23360199 23360199 T C snp 5682.77 1/1 99 207 1 206 1.0 exonic rs238547 SCNN1B AR,AD synonymous SNV NM_000336 exon2 c.T279C p.P93P 0.788538 0.9831 0.662306 0.6355 0.9830 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_multiple_submitters\x2c_no_conflicts;CLNACC=RCV000151814.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 16_23364081_A->C 16 23364081 23364081 A C snp 744.77 0/1 99 54 27 27 0.5 intronic rs63982 SCNN1B AR,AD NM_000336 exon3 c.4201-40A>C 0.357428 0.6716 0.212021 0.2808 0.6536 Uncertain 16_23388415_G->C 16 23388415 23388415 G C snp 1866.77 1/1 99 66 0 66 1.0 intronic rs250570 SCNN1B AR,AD NM_000336 exon9 c.28565-70G>C 0.305112 0.3839 Uncertain 16_23390201_G->C 16 23390201 23390201 G C snp 486.77 0/1 99 28 11 17 0.61 intronic rs2303153 SCNN1B AR,AD NM_000336 exon11 c.30168+113G>C 0.720248 0.8562 Uncertain 16_23400194_G->A 16 23400194 23400194 G A snp 543.77 0/1 99 44 22 22 0.5 UTR3 rs250587 COG7 AU 0.24361 0.2738 0.205402 0.2030 0.2869 Uncertain 16_23400494_C->A 16 23400494 23400494 C A snp 782.77 1/1 60 24 0 24 1.0 intronic rs250586 COG7 AU NM_153603 exon1 c.167+87C>A 0.9998 0.999 Uncertain 16_23436106_C->T 16 23436106 23436106 C T snp 1456.77 0/1 99 134 73 61 0.46 exonic rs116804305 COG7 AU nonsynonymous SNV NM_153603 exon7 c.G973A p.A325T 0.000399361 0.002 0.0002 0.0021 0.47 T 1.000 D -1.003 T 0.723 T 0.162 P Pathogenic 16_23436358_C->T 16 23436358 23436358 C T snp 185.77 0/1 94 9 3 6 0.67 intronic rs193937 COG7 AU NM_153603 exon11 c.36028+90C>T 0.331669 0.2907 Uncertain 16_23456578_T->C 16 23456578 23456578 T C snp 447.77 0/1 99 27 10 17 0.63 intronic rs540719 COG7 AU NM_153603 exon15 c.56245+93T>C 0.339058 0.2927 Uncertain 16_23486197_A->G 16 23486197 23486197 A G snp 357.77 0/1 99 27 9 18 0.67 intronic rs11074559 GGA2 AU NM_015044 exon4 c.7314-27A>G 0.66254 0.6994 0.715748 0.7505 0.6856 Uncertain 16_23489711_C->G 16 23489711 23489711 C G snp 597.77 0/1 99 42 20 22 0.52 exonic rs1135045 GGA2 AU nonsynonymous SNV NM_015044 exon13 c.G1270C p.A424P 0.676318 0.6994 0.730029 0.7564 0.6863 0.48 T 0.131 P -1.004 T 0.0 T 0.0 T Pathogenic 16_23490353_T->G 16 23490353 23490353 T G snp 1281.77 0/1 99 143 88 55 0.38 intronic rs4968008 GGA2 AU NM_015044 exon6 c.11322+121T>G 0.661542 0.7004 0.7680 0.7198 0 D 0.0 P -1.032 T Uncertain 16_23506940_G->A 16 23506940 23506940 G A snp 507.77 0/1 99 38 21 17 0.45 intronic rs722069 GGA2 AU NM_015044 exon16 c.28104-74G>A 0.64996 0.7004 Uncertain 16_23521643_G->C 16 23521643 23521643 G C snp 910.77 0/1 99 78 38 40 0.51 exonic rs1071685 GGA2 AU synonymous SNV NM_015044 exon1 c.C90G p.L30L 0.690895 0.6964 0.7494 0.6953 Uncertain 16_23521750_T->C 16 23521750 23521750 T C snp 747.77 0/1 99 54 22 32 0.59 UTR5 rs2285522 GGA2 AU 0.650559 0.6964 0.7045 0.8 Uncertain 16_23521780_C->T 16 23521780 23521780 C T snp 418.77 0/1 99 21 8 13 0.62 UTR5 rs2285521 GGA2 AU 0.830671 0.7163 0.6176 . Uncertain 16_23533008_G->A 16 23533008 23533008 G A snp 393.77 0/1 99 36 20 16 0.44 downstream rs11074565 EARS2 AR 0.674321 0.6974 Uncertain 16_23535680_A->C 16 23535680 23535680 A C snp 1466.77 0/1 99 108 49 59 0.55 UTR3 rs1468138 EARS2 AR 0.802117 0.7163 0.850065 0.8304 0.7100 Uncertain 16_23536366_T->C 16 23536366 23536366 T C snp 299.77 0/1 99 19 8 11 0.58 intronic rs6497670 EARS2 AR NM_001083614 exon2 c.873-198T>C 0.801917 0.7163 Uncertain 16_23536684_T->C 16 23536684 23536684 T C snp 1149.77 0/1 99 112 61 51 0.46 exonic rs6497671 EARS2 AR nonsynonymous SNV NM_001083614 exon8 c.A1369G p.S457G 0.801917 0.7163 0.849618 0.8306 0.7088 0.41 T 0.0 P -1.029 T 0.0 T 0.0 T CLINSIG=non-pathogenic;CLNDBN=not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000124861.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Pathogenic 16_23540798_C->T 16 23540798 23540798 C T snp 2164.77 0/1 99 190 94 96 0.51 intronic rs2072062 EARS2 AR NM_001083614 exon3 c.5131-24C>T 0.688698 0.6974 0.753521 0.7598 0.6864 Uncertain 16_23541223_G->A 16 23541223 23541223 G A snp 867.77 0/1 99 68 34 34 0.5 splicing rs2072061 EARS2 AR NM_001083614 exon4 c.5527+5G>A 0.673123 0.6974 0.736821 0.7557 0.6869 CLINSIG=non-pathogenic;CLNDBN=not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000124860.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Pathogenic 16_23546561_G->C 16 23546561 23546561 G C snp 516.77 0/1 99 63 37 26 0.41 exonic rs2073951 EARS2 AR synonymous SNV NM_001083614 exon4 c.C606G p.V202V 0.802716 0.7163 0.852494 0.8308 0.7103 CLINSIG=non-pathogenic;CLNDBN=not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000124858.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Uncertain 16_23555726_C->T 16 23555726 23555726 C T snp 497.77 0/1 99 48 25 23 0.48 intronic rs2369009 EARS2 AR NM_001083614 exon7 c.20143-108C>T 0.675719 0.6974 Uncertain 16_23557718_T->C 16 23557718 23557718 T C snp 1184.77 0/1 99 77 30 47 0.61 intronic rs7196534 EARS2 AR NM_001083614 exon7 c.20333+1694T>C 0.812899 0.7153 0.8245 0.7121 Uncertain 16_23557790_T->C 16 23557790 23557790 T C snp 673.77 0/1 99 44 16 28 0.64 intronic rs4968019 EARS2 AR NM_001083614 exon7 c.20333+1766T>C 0.689696 0.6974 0.7396 0.6818 Uncertain 16_23563501_C->T 16 23563501 23563501 C T snp 805.77 0/1 99 62 26 36 0.58 exonic rs7187920 EARS2 AR synonymous SNV NM_001083614 exon2 c.G264A p.A88A 0.67472 0.6974 0.734335 0.7561 0.6881 CLINSIG=non-pathogenic;CLNDBN=not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000124866.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Uncertain 16_23573833_A->C 16 23573833 23573833 A C snp 82.77 0/1 99 10 5 5 0.5 intronic rs152460 UBFD1 AU NM_019116 exon5 c.4882-112A>C 0.326078 0.3016 Uncertain 16_23581678_A->G 16 23581678 23581678 A G snp 242.77 0/1 99 21 12 9 0.43 intronic rs152457 UBFD1 AU NM_019116 exon7 c.12737-122A>G 0.170128 0.2827 Uncertain 16_23606895_G->T 16 23606895 23606895 G T snp 4621.77 1/1 99 171 0 171 1.0 intronic rs240744 NDUFAB1 AU NM_005003 exon5 c.13839-548G>T 0.90016 0.9484 0.8302 0.9412 Uncertain 16_23607079_G->T 16 23607079 23607079 G T snp 95.77 0/1 99 12 8 4 0.33 intronic rs3760109 NDUFAB1 AU NM_005003 exon5 c.13839-364G>T 0.175519 0.129 Uncertain 16_23625463_A->T 16 23625463 23625463 A T snp 881.77 1/1 66 26 0 26 1.0 intronic rs249936 PALB2 AU,AD NM_024675 exon3 c.10633+51A>T 0.996805 1 0.9975 1 CLINSIG=probable-non-pathogenic;CLNDBN=Familial_cancer_of_breast;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000114594.1;CLNDSDB=GeneReviews:MedGen:OMIM:SNOMED_CT;CLNDSDBID=NBK1247:C0346153:114480:254843006 Uncertain 16_23640467_G->A 16 23640467 23640467 G A snp 1130.77 0/1 99 77 32 45 0.58 intronic rs249954 PALB2 AU,AD NM_024675 exon8 c.25745-57G>A 0.35004 0.3512 0.301139 CLINSIG=non-pathogenic;CLNDBN=Familial_cancer_of_breast;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000114539.1;CLNDSDB=GeneReviews:MedGen:OMIM:SNOMED_CT;CLNDSDBID=NBK1247:C0346153:114480:254843006 Uncertain 16_23699023_A->G 16 23699023 23699023 A G snp 646.77 0/1 99 58 31 27 0.47 intronic rs150699764 PLK1 AU NM_005030 exon6 c.8692+78A>G 0.00658946 0.0308 Uncertain 16_23711925_C->G 16 23711925 23711925 C G snp 1145.77 0/1 99 127 78 49 0.39 exonic rs26764 ERN2 AU nonsynonymous SNV NM_033266 exon13 c.G1604C p.S535T 0.434704 0.4792 0.370094 0.3144 0.4722 0.68 T 0.0 P -0.922 T 0.0 T 0.0 T Pathogenic 16_23712183_A->G 16 23712183 23712183 A G snp 514.77 0/1 99 34 18 16 0.47 intronic rs26763 ERN2 AU NM_033266 exon11 c.10128-96A>G 0.445088 0.497 Uncertain 16_23712448_G->T 16 23712448 23712448 G T snp 978.77 0/1 99 72 34 38 0.53 intronic rs26762 ERN2 AU NM_033266 exon11 c.10284+13G>T 0.400359 0.4762 0.343004 0.3019 0.4798 Uncertain 16_23768380_-->G 16 23768380 23768380 - G indel 816.73 1/1 72 24 0 24 1.0 intronic rs397698642 CHP2 AU NM_022097 exon6 c.2151-141insG 0.728634 0.9276 Uncertain 16_23768710_C->T 16 23768710 23768710 C T snp 362.77 0/1 99 25 13 12 0.48 intronic rs109592 CHP2 AU NM_022097 exon6 c.2274+66C>T 0.217652 0.2351 Uncertain 16_23768727_C->T 16 23768727 23768727 C T snp 350.77 0/1 99 21 10 11 0.52 intronic rs194821 CHP2 AU NM_022097 exon6 c.2274+83C>T 0.392572 0.6657 Uncertain 16_23768802_T->G 16 23768802 23768802 T G snp 1452.77 1/1 99 46 0 46 1.0 intronic rs80950 CHP2 AU NM_022097 exon7 c.2480-48T>G 0.727236 0.9226 0.668155 0.6933 0.8992 Uncertain 16_23848762_G->A 16 23848762 23848762 G A snp 669.77 0/1 99 62 31 31 0.5 intronic rs3729883 PRKCB AU NM_002738 exon2 c.1231+35G>A 0.439896 0.6567 0.422580 0.5145 0.6399 Uncertain 16_24104328_A->G 16 24104328 24104328 A G snp 798.77 0/1 99 63 32 31 0.49 intronic rs880824 PRKCB AU NM_002738 exon6 c.256772+60A>G 0.546526 0.3859 Uncertain 16_24105669_G->A 16 24105669 24105669 G A snp 1393.77 0/1 99 134 77 57 0.43 intronic rs7196765 PRKCB AU NM_002738 exon7 c.258122+51G>A 0.523562 0.3829 0.578113 0.5190 0.3720 Uncertain 16_24135112_T->C 16 24135112 24135112 T C snp 790.77 1/1 57 28 0 28 1.0 intronic rs1013316 PRKCB AU NM_002738 exon9 c.287659-43T>C 0.508586 0.8095 0.419578 0.4431 0.8047 Uncertain 16_24166130_T->C 16 24166130 24166130 T C snp 884.77 0/1 99 99 60 39 0.39 exonic rs432998 PRKCB AU synonymous SNV NM_212535 exon10 c.T1191C p.P397P 0.394169 0.3413 0.367785 0.3522 0.3267 Uncertain 16_24185816_T->- 16 24185816 24185816 T - indel 202.73 0/1 99 45 27 18 0.4 intronic rs536495014 PRKCB AU NM_002738 exon12 c.338342-22delT 0.450879 0.4623 0.4475 0.4579 Uncertain 16_24192021_AC->- 16 24192021 24192022 AC - indel 2409.73 0/1 99 102 46 56 0.55 intronic rs113575395 PRKCB AU NM_002738 exon13 c.344614-89_344614-88delAC 0.110024 0.1796 Uncertain 16_24196289_A->T 16 24196289 24196289 A T snp 1001.77 0/1 99 68 28 40 0.59 intronic rs66639742 PRKCB AU NM_002738 exon14 c.348935-142A>T 0.159145 0.1776 Uncertain 16_24202615_A->G 16 24202615 24202615 A G snp 2348.77 0/1 99 172 80 92 0.53 intronic rs198145 PRKCB AU NM_002738 exon16 c.355055+64A>G 0.437899 0.3462 0.4055 0.3320 Uncertain 16_24357998_-->G 16 24357998 24357998 - G indel 1628.73 1/1 99 41 0 41 1.0 intronic rs35638594 CACNG3 AU NM_006539 exon2 c.89979-56insG 0.918770 Uncertain 16_24557619_-->T 16 24557619 24557619 - T indel 194.73 0/1 99 23 11 12 0.52 intronic rs3214553 RBBP6 AU NM_006910 exon2 c.5636+36insT 0.292931 0.2649 0.248160 0.2587 0.2443 Uncertain 16_24567320_A->G 16 24567320 24567320 A G snp 637.77 0/1 99 50 26 24 0.48 intronic rs7202501 RBBP6 AU NM_006910 exon6 c.15291+82A>G 0.292732 0.2649 Uncertain 16_24570757_T->C 16 24570757 24570757 T C snp 279.77 0/1 99 30 18 12 0.4 intronic rs3815906 RBBP6 AU NM_006910 exon8 c.18878-68T>C 0.242212 0.2649 Uncertain 16_24578458_T->C 16 24578458 24578458 T C snp 1729.77 0/1 99 158 84 74 0.47 splicing rs7195386 RBBP6 AU NM_006910 exon15 c.26516-5T>C 0.669529 0.4266 0.610359 0.5654 0.4066 Pathogenic 16_24682202_G->A 16 24682202 24682202 G A snp 3133.77 1/1 99 114 0 114 1.0 ncRNA_intronic rs59062800 LINC01567 AU 0.269968 0.3155 0.1943 0.2931 Uncertain 16_24741005_-->CGG 16 24741005 24741005 - CGG indel 279.73 0/1 99 11 4 7 0.64 upstream TNRC6A AU Uncertain 16_24741451_G->C 16 24741451 24741451 G C snp 31.77 0/1 51 6 4 2 0.33 intronic TNRC6A AU NM_014494 exon2 c.411-122G>C Uncertain 16_24741686_T->C 16 24741686 24741686 T C snp 1791.77 1/1 99 70 0 70 1.0 intronic rs7202252 TNRC6A AU NM_014494 exon2 c.459+65T>C 0.773363 0.872 0.717915 Uncertain 16_24761919_A->G 16 24761919 24761919 A G snp 128.78 0/1 27 8 2 6 0.75 intronic rs56800853 TNRC6A AU NM_014494 exon3 c.20884-127A>G 0.157947 0.3294 Uncertain 16_24788645_T->A 16 24788645 24788645 T A snp 1204.77 0/1 99 131 75 56 0.43 exonic rs11639856 TNRC6A AU nonsynonymous SNV NM_014494 exon5 c.T555A p.N185K 0.16853 0.128 0.187580 0.1747 0.1095 0.91 T 1.000 P -0.938 T 0.0 T 0.0 T Pathogenic 16_24807165_G->A 16 24807165 24807165 G A snp 451.77 0/1 99 38 18 20 0.53 intronic rs1030211 TNRC6A AU NM_014494 exon9 c.66065-62G>A 0.960463 0.9762 0.935611 Uncertain 16_24816492_A->G 16 24816492 24816492 A G snp 2374.77 0/1 99 242 137 105 0.43 intronic rs2059134 TNRC6A AU NM_014494 exon14 c.75310+20A>G 0.239816 0.1319 0.279052 0.2508 0.1104 Uncertain 16_24817505_C->T 16 24817505 24817505 C T snp 687.77 0/1 99 69 39 30 0.43 intronic rs12596320 TNRC6A AU NM_014494 exon16 c.76364-21C>T 0.144169 0.3304 0.021241 0.0737 0.3555 Uncertain 16_24817808_G->C 16 24817808 24817808 G C snp 1134.77 0/1 99 63 25 38 0.6 intronic rs2287786 TNRC6A AU NM_014494 exon17 c.76732-86G>C 0.153754 0.3165 Uncertain 16_24829725_T->C 16 24829725 24829725 T C snp 267.77 0/1 99 14 6 8 0.57 intronic rs2287785 TNRC6A AU NM_014494 exon21 c.88751-188T>C 0.156949 0.3244 Uncertain 16_24838672_C->T 16 24838672 24838672 C T snp 1792.77 0/1 99 137 60 77 0.56 intergenic rs72770432 TNRC6A AU 0.169329 0.3274 Uncertain 16_24874067_A->C 16 24874067 24874067 A C snp 433.77 0/1 99 29 12 17 0.59 intronic rs75496320 SLC5A11 AU NM_052944 exon3 c.4029+74A>C 0.181709 0.254 Uncertain 16_24883306_A->C 16 24883306 24883306 A C snp 139.03 1/1 12 5 0 5 1.0 intronic rs2547037 SLC5A11 AU NM_052944 exon5 c.13516-174A>C 0.723243 0.7054 Uncertain 16_24883451_G->A 16 24883451 24883451 G A snp 1348.77 0/1 99 116 57 59 0.51 intronic rs139430388 SLC5A11 AU NM_052944 exon5 c.13516-29G>A 0.00958466 0.0446 0.000231 0.0039 0.0477 Uncertain 16_24886887_G->- 16 24886887 24886887 G - indel 556.73 0/1 99 25 6 19 0.76 intronic rs60449337 SLC5A11 AU NM_052944 exon6 c.16983-60delG Uncertain 16_24886893_G->T 16 24886893 24886893 G T snp 636.77 0/1 99 31 7 24 0.77 intronic rs34534629 SLC5A11 AU NM_052944 exon6 c.16983-54G>T 0.321885 0.3621 Uncertain 16_24888454_C->T 16 24888454 24888454 C T snp 595.77 0/1 99 41 20 21 0.51 intronic rs274074 SLC5A11 AU NM_052944 exon7 c.18614-124C>T 0.247604 0.2192 Uncertain 16_24902010_A->G 16 24902010 24902010 A G snp 56.74 1/1 6 2 0 2 1.0 intronic rs274080 SLC5A11 AU NM_052944 exon9 c.32225-179A>G 0.280751 0.3393 Uncertain 16_24902194_T->C 16 24902194 24902194 T C snp 4035.77 1/1 99 160 0 160 1.0 exonic rs274081 SLC5A11 AU synonymous SNV NM_052944 exon9 c.T669C p.F223F 0.9998 0.999 0.9999 0.9993 Uncertain 16_24902434_T->C 16 24902434 24902434 T C snp 907.77 1/1 69 25 0 25 1.0 intronic rs274082 SLC5A11 AU NM_052944 exon9 c.32431+39T>C 0.240615 0.3383 0.187163 0.2551 0.3239 Uncertain 16_24975425_G->T 16 24975425 24975425 G T snp 111.77 0/1 99 7 3 4 0.57 intronic rs12599343 ARHGAP17 AU NM_018054 exon13 c.44067-92G>T 0.357228 0.5 Uncertain 16_24980189_G->A 16 24980189 24980189 G A snp 1235.77 0/1 99 108 53 55 0.51 intronic rs12103073 ARHGAP17 AU NM_018054 exon15 c.48643+96G>A 0.358227 0.5 Uncertain 16_25043277_G->A 16 25043277 25043277 G A snp 3267.77 0/1 99 250 114 136 0.54 ncRNA_exonic rs11074669 LOC554206 AU 0.536342 0.6468 0.6259 0.698 Uncertain 16_25043569_A->G 16 25043569 25043569 A G snp 1048.77 0/1 99 106 60 46 0.43 ncRNA_exonic rs7498149 LOC554206 AU 0.346246 0.3532 0.4497 0.3245 Uncertain 16_25066332_A->C 16 25066332 25066332 A C snp 49.74 1/1 6 2 0 2 1.0 intergenic rs12924642 LOC554206 AU 0.953275 0.9812 Uncertain 16_25137289_G->C 16 25137289 25137289 G C snp 297.78 1/1 24 15 0 15 1.0 intronic rs7189229 LCMT1 AU NM_016309 exon2 c.16591-2506G>C 0.995607 1 0.9980 1 Uncertain 16_25137385_G->A 16 25137385 25137385 G A snp 566.77 0/1 99 85 55 30 0.35 intronic rs11861481 LCMT1 AU NM_016309 exon2 c.16591-2410G>A 0.4888 0.4896 Uncertain 16_25139641_T->A 16 25139641 25139641 T A snp 96.28 1/1 9 3 0 3 1.0 intronic rs4787304 LCMT1 AU NM_016309 exon2 c.16591-154T>A 0.995607 1 Uncertain 16_25151398_-->CT 16 25151398 25151398 - CT indel 469.74 1/1 30 10 0 10 1.0 intronic rs10681142 LCMT1 AU NM_016309 exon4 c.28287-93insCT 0.366414 0.4702 Uncertain 16_25172274_G->T 16 25172274 25172274 G T snp 1490.77 1/1 99 47 0 47 1.0 intronic rs277899 LCMT1 AU NM_016309 exon6 c.49218-148G>T 0.300719 0.3423 Uncertain 16_25172307_-->T 16 25172307 25172307 - T indel 116.5 0/1 3 16 1 15 0.94 intronic rs111379361 LCMT1 AU NM_016309 exon6 c.49218-115insT Uncertain 16_25180610_G->A 16 25180610 25180610 G A snp 739.77 1/1 54 23 0 23 1.0 intronic rs6497812 LCMT1 AU NM_016309 exon8 c.57330+76G>A 0.995807 1 0.9979 1 Uncertain 16_25704145_A->G 16 25704145 25704145 A G snp 1038.77 1/1 75 39 0 39 1.0 exonic rs2943336 HS3ST4 AU nonsynonymous SNV NM_006040 exon1 c.A407G p.Q136R 0.98103 1 0.987867 0.9989 1 0.54 T 0.000 P -0.959 T Pathogenic 16_27078867_A->C 16 27078867 27078867 A C snp 56.74 1/1 6 2 0 2 1.0 UTR3 rs12446622 C16orf82 AU 0.996605 1 Uncertain 16_27215267_G->A 16 27215267 27215267 G A snp 1443.77 1/1 99 47 0 47 1.0 intronic rs877585 KDM8 AU 0.745208 0.9931 Uncertain 16_27215380_A->C 16 27215380 27215380 A C snp 2897.77 1/1 99 107 0 107 1.0 UTR5 rs908382 KDM8 AU 0.912939 1 0.923706 0.9435 1 Uncertain 16_27226437_G->T 16 27226437 27226437 G T snp 4086.77 1/1 99 145 1 144 0.99 intronic rs8054431 KDM8 AU NM_001145348 exon4 c.10916+108G>T 0.427117 0.4266 Uncertain 16_27227122_T->C 16 27227122 27227122 T C snp 2109.77 1/1 99 65 0 65 1.0 intronic rs7405158 KDM8 AU NM_001145348 exon5 c.11852-143T>C 0.38758 0.4296 Uncertain 16_27227168_T->G 16 27227168 27227168 T G snp 4366.77 1/1 99 157 0 157 1.0 intronic rs11645703 KDM8 AU NM_001145348 exon5 c.11852-97T>G 0.620008 0.8502 Uncertain 16_27236403_G->A 16 27236403 27236403 G A snp 979.77 1/1 72 26 0 26 1.0 UTR3 rs2958 NSMCE1 AU 0.329273 0.4633 Uncertain 16_27238034_C->T 16 27238034 27238034 C T snp 2877.77 1/1 99 101 0 101 1.0 intronic rs34940876 NSMCE1 AU NM_145080 exon3 c.1563-6C>T 0.316094 0.4663 0.293062 0.3415 0.4721 Uncertain 16_27238110_C->T 16 27238110 27238110 C T snp 3818.77 1/1 99 141 0 141 1.0 exonic rs1127228 NSMCE1 AU synonymous SNV NM_145080 exon6 c.G531A p.E177E 0.315895 0.4653 0.288944 0.3404 0.4718 Uncertain 16_27244548_A->G 16 27244548 27244548 A G snp 936.77 1/1 69 32 1 31 0.97 intronic rs28456036 NSMCE1 AU NM_145080 exon4 c.7991+80A>G 0.670327 0.8948 Uncertain 16_27245712_C->T 16 27245712 27245712 C T snp 1908.77 1/1 99 49 0 49 1.0 intronic rs34939984 NSMCE1 AU NM_145080 exon5 c.9109+126C>T 0.315695 0.4673 Uncertain 16_27253059_G->A 16 27253059 27253059 G A snp 463.77 1/1 36 14 0 14 1.0 intronic rs28363677 NSMCE1 AU NM_145080 exon6 c.10143+6439G>A 0.993411 0.9683 Uncertain 16_27269023_T->C 16 27269023 27269023 T C snp 1206.77 1/1 90 42 0 42 1.0 intronic rs7201652 NSMCE1 AU NM_145080 exon7 c.32425+121T>C 0.32528 0.4296 Uncertain 16_27301384_G->C 16 27301384 27301384 G C snp 54.74 1/1 6 2 0 2 1.0 ncRNA_intronic rs8050048 FLJ21408 AU 0.343251 0.5188 Uncertain 16_27356203_A->G 16 27356203 27356203 A G snp 1404.77 0/1 99 139 72 67 0.48 exonic rs1805010 IL4R AU,AD nonsynonymous SNV NM_000418 exon5 c.A223G p.I75V 0.45647 0.5159 0.464984 0.4512 0.5138 1 T 0.0 P -0.941 T 0.0 T 0.001 T CLINSIG=other|pathogenic;CLNDBN=Atopy\x2c_resistance_to|Acquired_immunodeficiency_syndrome\x2c_slow_progression_to;CLNREVSTAT=no_assertion_criteria_provided|no_assertion_criteria_provided;CLNACC=RCV000015776.3|RCV000015777.3;CLNDSDB=.|.;CLNDSDBID=.|. ID=CM983400;DIS=Asthma, atopic, association with;TAG=DFP;PUB=9620765 DFP Pathogenic 16_27356359_C->T 16 27356359 27356359 C T snp 573.77 0/1 99 54 30 24 0.44 intronic rs2074572 IL4R AU,AD NM_000418 exon5 c.4817+18C>T 0.291733 0.374 0.295290 0.3373 0.3702 Uncertain 16_27356398_C->T 16 27356398 27356398 C T snp 281.77 0/1 99 17 7 10 0.59 intronic rs2072130 IL4R AU,AD NM_000418 exon5 c.4817+57C>T 0.363618 0.5159 Uncertain 16_27356667_T->G 16 27356667 27356667 T G snp 1448.77 0/1 99 116 51 65 0.56 intronic rs3024560 IL4R AU,AD NM_000418 exon5 c.4817+326T>G 0.404353 0.5159 Uncertain 16_27358098_A->C 16 27358098 27358098 A C snp 139.03 1/1 12 5 0 5 1.0 intronic rs2301807 IL4R AU,AD NM_000418 exon6 c.6415+159A>C 0.952077 0.9008 Uncertain 16_27364158_C->T 16 27364158 27364158 C T snp 80.77 0/1 99 6 3 3 0.5 intronic rs3024610 IL4R AU,AD NM_000418 exon7 c.12493+141C>T 0.363419 0.4385 Uncertain 16_27364200_A->C 16 27364200 27364200 A C snp 54.74 1/1 6 2 0 2 1.0 intronic rs3024611 IL4R AU,AD NM_000418 exon7 c.12493+183A>C 0.761382 0.9008 Uncertain 16_27367334_C->T 16 27367334 27367334 C T snp 1541.77 1/1 99 50 0 50 1.0 intronic rs4787423 IL4R AU,AD NM_000418 exon8 c.15704+106C>T 0.808107 0.9008 Uncertain 16_27367413_T->C 16 27367413 27367413 T C snp 168.9 1/1 15 5 0 5 1.0 intronic rs3116572 IL4R AU,AD NM_000418 exon8 c.15704+185T>C Uncertain 16_27370933_GTG->- 16 27370933 27370935 GTG - indel 611.73 1/1 36 12 0 12 1.0 intronic rs138640688 IL4R AU,AD NM_000418 exon9 c.18791+618_18791+620delGTG 0.723642 0.9018 Uncertain 16_27371158_C->T 16 27371158 27371158 C T snp 2143.77 1/1 99 74 0 74 1.0 intronic rs3024660 IL4R AU,AD NM_000418 exon9 c.18791+843C>T 0.727636 0.9018 0.8539 0.9118 Uncertain 16_27371949_A->G 16 27371949 27371949 A G snp 180.9 1/1 15 5 0 5 1.0 intronic rs3024668 IL4R AU,AD NM_000418 exon10 c.20562-137A>G 0.812899 0.9206 Uncertain 16_27414378_T->G 16 27414378 27414378 T G snp 2376.77 0/1 99 183 84 99 0.54 intergenic rs6498021 IL4R AU,AD 0.88139 0.7183 Uncertain 16_27441283_A->G 16 27441283 27441283 A G snp 2163.77 1/1 99 77 0 77 1.0 intronic rs179760 IL21R AR,AD NM_181079 exon3 c.26885-93A>G 0.846446 0.9851 Uncertain 16_27561584_G->A 16 27561584 27561584 G A snp 4595.77 1/1 99 161 0 161 1.0 intronic rs4787969 KIAA0556 AR NM_015202 exon1 c.7+86G>A 0.861821 0.999 0.819974 Uncertain 16_27629661_G->C 16 27629661 27629661 G C snp 1577.77 1/1 99 45 0 45 1.0 intronic rs4787980 KIAA0556 AR NM_015202 exon3 c.68254-84G>C 0.885982 0.999 Uncertain 16_27642249_A->G 16 27642249 27642249 A G snp 1560.77 1/1 99 53 0 53 1.0 intronic rs233453 KIAA0556 AR NM_015202 exon5 c.80894-136A>G 0.932907 0.999 Uncertain 16_27644073_T->C 16 27644073 27644073 T C snp 341.78 1/1 27 9 0 9 1.0 intronic rs233454 KIAA0556 AR NM_015202 exon5 c.80992+1590T>C 0.862819 0.999 Uncertain 16_27666204_A->G 16 27666204 27666204 A G snp 431.77 1/1 33 11 0 11 1.0 intronic rs233470 KIAA0556 AR NM_015202 exon6 c.98565+6148A>G 0.795727 0.9117 Uncertain 16_27772901_G->A 16 27772901 27772901 G A snp 4014.77 1/1 99 158 0 158 1.0 exonic rs4787984 KIAA0556 AR nonsynonymous SNV NM_015202 exon19 c.G3799A p.A1267T 0.9998 1 0.999384 0.9995 1 1 T 0.003 P -0.986 T 0.0 T 0.0 T Pathogenic 16_27777831_A->G 16 27777831 27777831 A G snp 3665.77 1/1 99 131 0 131 1.0 intronic rs8043555 KIAA0556 AR NM_015202 exon20 c.216304+36A>G 0.907149 0.876 0.895721 0.8683 0.8689 Uncertain 16_27861785_C->A 16 27861785 27861785 C A snp 161.77 0/1 99 12 5 7 0.58 intronic rs9923715 GSG1L AU NM_001109763 exon4 c.53692+5403C>A 0.48123 0.4048 0.4753 0.4155 Uncertain 16_27974418_T->C 16 27974418 27974418 T C snp 738.77 1/1 54 25 0 25 1.0 intronic rs2051742 GSG1L AU NM_001109763 exon6 c.171786-58T>C 0.836062 0.8829 0.764783 Uncertain 16_27974487_T->C 16 27974487 27974487 T C snp 556.77 0/1 99 57 32 25 0.44 exonic rs2051743 GSG1L AU synonymous SNV NM_001109763 exon2 c.A387G p.A129A 0.580671 0.754 0.541389 0.5887 0.7441 Uncertain 16_28074322_C->T 16 28074322 28074322 C T snp 870.77 0/1 99 70 34 36 0.51 intronic rs71377621 GSG1L AU NM_001109763 exon7 c.271706-74C>T 0.263578 0.2817 Uncertain 16_28117889_C->A 16 28117889 28117889 C A snp 310.77 0/1 99 33 19 14 0.42 intronic rs2074082 XPO6 AU NM_015171 exon6 c.7960+71C>A 0.0265575 0.1151 Uncertain 16_28143489_C->T 16 28143489 28143489 C T snp 797.77 1/1 57 30 0 30 1.0 intronic rs9930464 XPO6 AU NM_015171 exon13 c.33796-165C>T 0.914537 0.9871 Uncertain 16_28157351_T->C 16 28157351 28157351 T C snp 157.9 1/1 15 6 0 6 1.0 intronic rs28379290 XPO6 AU NM_015171 exon16 c.47556-63T>C 1 1 Uncertain 16_28167914_C->A 16 28167914 28167914 C A snp 436.77 1/1 33 14 0 14 1.0 intronic rs10445001 XPO6 AU NM_015171 exon18 c.57990+66C>A 0.566294 0.7133 Uncertain 16_28181306_A->G 16 28181306 28181306 A G snp 1428.77 1/1 99 47 0 47 1.0 intronic rs28479048 XPO6 AU NM_015171 exon20 c.71372+76A>G 0.995407 1 Uncertain 16_28331299_G->A 16 28331299 28331299 G A snp 35.77 0/1 64 7 5 2 0.29 intronic rs76822530 SBK1 AU NM_001024401 exon4 c.2684-97G>A 0.141973 0.1657 Uncertain 16_28488943_T->C 16 28488943 28488943 T C snp 1466.77 0/1 99 123 63 60 0.49 exonic rs77595156 CLN3 AR nonsynonymous SNV NM_001042432 exon16 c.A1211G p.H404R 0.155751 0.1319 0.111744 0.0807 0.1229 0.45 T 1.0 P -1.266 T 1.0 D 0.999 D CLINSIG=probable-non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=no_assertion_criteria_provided|criteria_provided\x2c_single_submitter;CLNACC=RCV000116749.2|RCV000124319.1;CLNDSDB=MedGen|MedGen;CLNDSDBID=CN169374|CN221809 Pathogenic 16_28489342_G->A 16 28489342 28489342 G A snp 172.77 0/1 99 12 6 6 0.5 intronic rs28374519 CLN3 AR NM_001286105 exon2 c.362+144G>A 0.403954 0.5813 Uncertain 16_28489346_T->C 16 28489346 28489346 T C snp 182.77 0/1 99 12 6 6 0.5 intronic rs34839 CLN3 AR NM_001286105 exon2 c.362+148T>C 0.462859 0.4127 Uncertain 16_28508716_T->C 16 28508716 28508716 T C snp 1865.77 1/1 99 64 0 64 1.0 exonic rs40832 APOBR AU nonsynonymous SNV NM_018690 exon2 c.T2354C p.V785A 0.987021 1 0.982428 0.9953 0.9999 0.81 T 0.0 P -1.005 T Pathogenic 16_28510393_C->T 16 28510393 28510393 C T snp 315.77 0/1 99 46 32 14 0.3 downstream rs40834 APOBR AU 0.394968 0.3671 Uncertain 16_28511253_G->A 16 28511253 28511253 G A snp 1788.77 0/1 99 136 58 78 0.57 intronic rs146531211 IL27 AU NM_145659 exon1 c.270+12G>A 0.00339457 0.0169 0.0007 0.0148 Uncertain 16_28600277_C->T 16 28600277 28600277 C T snp 517.77 0/1 99 35 18 17 0.49 intronic rs13336311 CCDC101 AU NM_138414 exon5 c.8030-143C>T 0.0894569 0.2073 Uncertain 16_28601563_C->T 16 28601563 28601563 C T snp 1221.77 0/1 99 102 50 52 0.51 intronic rs577053958 CCDC101 AU NM_138414 exon6 c.9156+17C>T 0.000599042 0.003 5.39e-05 0.0006 Uncertain 16_28601802_G->A 16 28601802 28601802 G A snp 771.77 0/1 99 72 39 33 0.46 intronic rs4149409 CCDC101 AU NM_138414 exon7 c.9373+39G>A 0.0886581 0.2073 0.050023 0.0572 0.1953 Uncertain 16_28602991_A->G 16 28602991 28602991 A G snp 2182.77 0/1 99 192 107 85 0.44 exonic rs11401 CCDC101 AU synonymous SNV NM_138414 exon10 c.A846G p.R282R 0.174121 0.2212 0.172618 0.1682 0.2036 Uncertain 16_28603114_C->T 16 28603114 28603114 C T snp 397.77 0/1 99 31 16 15 0.48 downstream rs562167354 CCDC101 AU 0.000199681 0.001 Uncertain 16_28603393_T->C 16 28603393 28603393 T C snp 142.03 1/1 12 5 0 5 1.0 exonic rs27742 SULT1A2 AU nonsynonymous SNV NM_001054 exon8 c.A844G p.K282E 0.986422 1 0.979379 0.9949 1 0.43 T 0.0 P -1.021 T 0.0 T 0.0 T Pathogenic 16_28604686_A->G 16 28604686 28604686 A G snp 1316.77 0/1 99 122 67 55 0.45 intronic rs3743963 SULT1A2 AU NM_177528 exon3 c.1319+19A>G 0.420927 0.2956 0.514622 0.4870 0.2750 Uncertain 16_28617485_C->T 16 28617485 28617485 C T snp 5559.77 1/1 99 205 0 205 1.0 exonic rs1801030 SULT1A1 AU nonsynonymous SNV NM_001055 exon7 c.G667A p.V223M 0.872863 0.9714 1 0.09 T 0.0 P -1.034 T 0.073 T 0.084 T Pathogenic 16_28617507_C->T 16 28617507 28617507 C T snp 321.77 0/1 99 233 198 35 0.15 exonic rs41278160 SULT1A1 AU synonymous SNV NM_001055 exon7 c.G645A p.L215L 0.020320 0.0356 0.0784 Uncertain 16_28617552_C->G 16 28617552 28617552 C G snp 366.77 0/1 99 226 191 35 0.15 exonic rs3176926 SULT1A1 AU synonymous SNV NM_001055 exon7 c.G600C p.P200P 0.2928 0.1493 Uncertain 16_28617574_C->T 16 28617574 28617574 C T snp 515.77 0/1 99 210 170 40 0.19 intronic rs4149394 SULT1A1 AU NM_177536 exon2 c.416+17C>T 0.289936 0.2629 0.264815 0.3342 0.2018 Uncertain 16_28617595_A->G 16 28617595 28617595 A G snp 553.77 0/1 99 180 144 36 0.2 intronic rs4149393 SULT1A1 AU NM_177536 exon2 c.416+38A>G 0.290935 0.2649 0.331692 0.3463 0.2280 Uncertain 16_28618011_G->A 16 28618011 28618011 G A snp 30.79 0/1 23 4 2 2 0.5 intronic rs4149389 SULT1A1 AU NM_177536 exon3 c.940-70G>A 0.288938 0.2629 Uncertain 16_28618037_T->G 16 28618037 28618037 T G snp 52.77 0/1 81 15 12 3 0.2 intronic rs41278156 SULT1A1 AU NM_177536 exon3 c.940-44T>G 0.3399 0.2283 Uncertain 16_28618047_A->T 16 28618047 28618047 A T snp 35.77 0/1 64 18 15 3 0.17 intronic rs4149388 SULT1A1 AU NM_177536 exon3 c.940-34A>T 0.290136 0.2659 0.3437 0.2291 Uncertain 16_28618065_A->T 16 28618065 28618065 A T snp 138.77 0/1 99 44 37 7 0.16 intronic rs3020806 SULT1A1 AU NM_177536 exon3 c.940-16A>T 0.290735 0.2669 0.234457 0.3460 0.2314 Uncertain 16_28618068_G->A 16 28618068 28618068 G A snp 119.77 0/1 99 50 43 7 0.14 intronic rs74752114 SULT1A1 AU NM_177536 exon3 c.940-13G>A 0.291134 0.2669 0.3459 0.2313 Uncertain 16_28618071_C->G 16 28618071 28618071 C G snp 104.77 0/1 99 58 51 7 0.12 intronic rs3020805 SULT1A1 AU NM_177536 exon3 c.940-10C>G 0.290935 0.2669 0.3459 0.2315 Uncertain 16_28618237_T->C 16 28618237 28618237 T C snp 1045.77 0/1 99 249 200 49 0.2 intronic rs9282862 SULT1A1 AU NM_177536 exon4 c.1130-34T>C 0.292532 0.2659 0.319070 0.3591 0.2405 Uncertain 16_28618238_A->G 16 28618238 28618238 A G snp 8275.77 1/1 99 250 0 250 1.0 intronic rs7499134 SULT1A1 AU NM_177536 exon4 c.1130-33A>G 0.968251 1 0.963599 0.9896 1 Uncertain 16_28618446_T->C 16 28618446 28618446 T C snp 906.77 0/1 99 221 176 45 0.2 intronic rs2925623 SULT1A1 AU NM_177536 exon4 c.1257+48T>C 0.291134 0.2639 0.283362 0.3499 0.2067 Uncertain 16_28618469_A->T 16 28618469 28618469 A T snp 873.77 0/1 99 226 181 45 0.2 intronic rs376487988 SULT1A1 AU NM_177536 exon4 c.1257+71A>T 0.0664936 0.1885 Uncertain 16_28618636_A->G 16 28618636 28618636 A G snp 761.77 0/1 99 200 155 45 0.23 intronic rs3020804 SULT1A1 AU NM_177536 exon4 c.1257+238A>G 0.293331 0.2659 Uncertain 16_28618708_C->T 16 28618708 28618708 C T snp 385.77 0/1 99 56 38 18 0.32 intronic rs11648192 SULT1A1 AU NM_177536 exon4 c.1257+310C>T 0.467851 0.6032 Uncertain 16_28619911_T->C 16 28619911 28619911 T C snp 948.77 0/1 99 199 152 47 0.24 exonic rs1126447 SULT1A1 AU synonymous SNV NM_001055 exon3 c.A162G p.V54V 0.290535 0.2669 0.291596 0.3523 0.2376 Uncertain 16_28619920_A->G 16 28619920 28619920 A G snp 853.77 0/1 99 192 148 44 0.23 exonic rs1126446 SULT1A1 AU synonymous SNV NM_001055 exon3 c.T153C p.T51T 0.290735 0.2669 0.281207 0.3516 0.2367 Uncertain 16_28620120_C->T 16 28620120 28620120 C T snp 182.77 0/1 99 37 28 9 0.24 exonic rs34513973 SULT1A1 AU synonymous SNV NM_001055 exon2 c.G57A p.P19P 0.036138 0.0633 0.1565 Uncertain 16_28620572_C->T 16 28620572 28620572 C T snp 303.03 0/1 12 11 1 10 0.91 intronic rs750155 SULT1A1 AU NM_177530 exon8 c.3508-77C>T 0.401757 0.4464 ID=CR078779;DIS=Increased activity;TAG=FP;PUB=17189289 FP Uncertain 16_28620800_C->G 16 28620800 28620800 C G snp 697.77 0/1 99 240 197 43 0.18 intronic rs3760091 SULT1A1 AU NM_177530 exon8 c.3508+151C>G 0.360623 0.3611 0.3571 0.3846 ID=CR078778;DIS=Increased activity;TAG=FP;PUB=17189289 FP Uncertain 16_28621311_T->C 16 28621311 28621311 T C snp 1043.77 0/1 99 69 26 43 0.62 UTR5 rs2077412 SULT1A1 AU 0.676518 0.5188 0.6819 0.5862 Uncertain 16_28631314_-->TGTGTG 16 28631314 28631314 - TGTGTG indel 1107.73 1/1 42 14 0 14 1.0 intergenic rs113783918 SULT1A1 AU 0.577875 0.6954 Uncertain 16_28631360_A->T 16 28631360 28631360 A T snp 1003.77 1/1 72 38 0 38 1.0 intergenic rs28410083 SULT1A1 AU 0.675919 0.9256 0.580576 0.6521 0.9371 Uncertain 16_28634425_C->T 16 28634425 28634425 C T snp 1130.77 0/1 99 75 26 49 0.65 intergenic rs56148728 SULT1A1 AU 0.108027 0.1796 0.092974 0.1079 0.2470 Uncertain 16_28835900_G->A 16 28835900 28835900 G A snp 1026.77 0/1 99 112 64 48 0.43 intronic rs12920514 ATXN2L AU NM_017492 exon2 c.2106-786G>A 0.382987 0.4931 0.5179 0.4848 Uncertain 16_28838073_A->G 16 28838073 28838073 A G snp 357.77 0/1 99 41 24 17 0.41 intronic rs12448482 ATXN2L AU NM_017492 exon6 c.3602-109A>G 0.824481 0.7937 Uncertain 16_28842311_A->G 16 28842311 28842311 A G snp 1898.77 1/1 99 61 0 61 1.0 exonic rs4344749 ATXN2L AU synonymous SNV NM_007245 exon10 c.A1239G p.Q413Q 0.997804 1 0.997614 0.9995 1 Uncertain 16_28844068_T->A 16 28844068 28844068 T A snp 543.77 0/1 99 51 29 22 0.43 intronic rs7498491 ATXN2L AU NM_017492 exon13 c.9557-69T>A 0.803914 0.7778 Uncertain 16_28845584_C->T 16 28845584 28845584 C T snp 1936.77 0/1 99 195 111 84 0.43 intronic rs35725751 ATXN2L AU NM_017492 exon16 c.10952+52C>T 0.302716 0.3075 0.241736 0.2672 0.3184 Uncertain 16_28856819_C->T 16 28856819 28856819 C T snp 809.77 0/1 99 75 37 38 0.51 intronic rs8061877 TUFM AU NM_003321 exon8 c.2506+18C>T 0.373203 0.4514 0.246729 0.3086 0.4509 Uncertain 16_28883327_T->C 16 28883327 28883327 T C snp 31.77 0/1 60 8 6 2 0.25 intronic rs28433345 SH2B1 AU NM_001145795 exon6 c.5889+23T>C 0.745008 0.7381 0.670771 0.6910 0.7136 Uncertain 16_28903656_C->A 16 28903656 28903656 C A snp 1007.77 0/1 99 68 26 42 0.62 intronic rs6565261 ATP2A1 AR NM_001286075 exon8 c.11653-1819C>A 0.38738 0.4931 0.5546 0.4848 Uncertain 16_28903765_GTAA->- 16 28903765 28903768 GTAA - indel 261.73 0/1 99 18 12 6 0.33 intronic rs143162415 ATP2A1 AR NM_001286075 exon8 c.11653-1710_11653-1707delGTAA Uncertain 16_28903769_C->A 16 28903769 28903769 C A snp 143.77 0/1 99 17 11 6 0.35 intronic rs200911429 ATP2A1 AR NM_001286075 exon8 c.11653-1706C>A Uncertain 16_28906084_G->C 16 28906084 28906084 G C snp 2928.77 1/1 99 107 0 107 1.0 intronic rs9931989 ATP2A1 AR NM_001286075 exon10 c.12320-58G>C 0.750799 0.874 Uncertain 16_28913787_T->C 16 28913787 28913787 T C snp 1174.77 1/1 87 35 0 35 1.0 intronic rs7189927 ATP2A1 AR NM_001286075 exon15 c.19885+80T>C 0.752596 0.873 Uncertain 16_28915217_G->A 16 28915217 28915217 G A snp 249.8 1/1 21 7 0 7 1.0 intronic rs8046545 ATP2A1 AR NM_001286075 exon20 c.21240+155G>A 0.816693 0.8839 Uncertain 16_28915433_A->C 16 28915433 28915433 A C snp 471.77 0/1 99 32 14 18 0.56 intronic rs2071342 ATP2A1 AR NM_001286075 exon21 c.21678-67A>C 0.194289 0.2242 0.272668 Uncertain 16_28915527_G->A 16 28915527 28915527 G A snp 3593.77 1/1 99 136 1 135 0.99 UTR3 rs10499 ATP2A1 AR 0.81869 0.8839 0.751424 0.7060 0.8981 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000082694.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 16_28922149_C->T 16 28922149 28922149 C T snp 2984.77 1/1 99 109 0 109 1.0 intronic rs11646653 RABEP2 AU NM_024816 exon7 c.5945-59C>T 0.754992 0.874 0.6952 0.8897 Uncertain 16_28925978_T->C 16 28925978 28925978 T C snp 4118.77 1/1 99 153 0 153 1.0 intronic rs3924376 RABEP2 AU NM_024816 exon10 c.9729-14T>C 0.823283 0.8839 0.763387 0.7190 0.8927 Uncertain 16_28944396_C->G 16 28944396 28944396 C G snp 4467.77 1/1 99 165 0 165 1.0 exonic rs2904880 CD19 AR nonsynonymous SNV NM_001770 exon3 c.C520G p.L174V 0.830272 0.9018 0.769355 0.7293 0.9107 0.15 T 0.0 P -1.015 T 0.0 T 0.0 T Pathogenic 16_28944700_G->T 16 28944700 28944700 G T snp 1859.77 0/1 99 152 75 77 0.51 exonic rs35979293 CD19 AR synonymous SNV NM_001770 exon4 c.G705T p.P235P 0.187101 0.1726 0.275358 0.2935 0.1864 Uncertain 16_28967423_C->T 16 28967423 28967423 C T snp 1333.77 0/1 99 136 79 57 0.42 intronic rs73533880 NFATC2IP AU NM_032815 exon4 c.5047+44C>T 0.210064 0.2361 0.088887 0.0983 0.2628 Uncertain 16_28967688_C->T 16 28967688 28967688 C T snp 269.77 0/1 99 21 9 12 0.57 intronic rs8047616 NFATC2IP AU NM_032815 exon5 c.5326+30C>T 0.220647 0.2361 0.097737 0.1062 0.2703 Uncertain 16_28986997_G->A 16 28986997 28986997 G A snp 430.77 0/1 99 27 13 14 0.52 intronic rs7184156 SPNS1 AU NM_001142448 exon3 c.406+119G>A 0.236821 0.2659 Uncertain 16_28993049_A->C 16 28993049 28993049 A C snp 2906.77 1/1 99 99 0 99 1.0 intronic rs6565300 SPNS1 AU NM_001142448 exon7 c.6464+113A>C 0.823482 0.9206 Uncertain 16_28993369_C->T 16 28993369 28993369 C T snp 348.77 0/1 99 35 20 15 0.43 exonic rs61747536 SPNS1 AU synonymous SNV NM_032038 exon7 c.C957T p.S319S 0.191294 0.2361 0.071264 0.0954 0.2628 Uncertain 16_28993650_C->- 16 28993650 28993650 C - indel 2776.73 0/1 99 167 75 92 0.55 intronic rs11301233 SPNS1 AU NM_001142448 exon9 c.7204-26delC 0.521565 0.4038 0.483786 0.4249 0.4192 Uncertain 16_28995057_T->C 16 28995057 28995057 T C snp 237.77 0/1 99 13 6 7 0.54 intronic rs11859822 SPNS1 AU NM_001142448 exon12 c.8634-49T>C 0.339856 0.2659 0.206344 0.1283 0.2805 Uncertain 16_28995757_C->A 16 28995757 28995757 C A snp 1788.77 1/1 99 61 0 61 1.0 UTR3 rs7140 SPNS1 AU 0.823482 0.9206 0.7934 0.8662 Uncertain 16_28997270_T->C 16 28997270 28997270 T C snp 1091.77 0/1 99 88 45 43 0.49 intronic rs41280846 LAT AU NM_014387 exon3 c.471+61T>C 0.339457 0.2659 0.188349 Uncertain 16_28997997_G->A 16 28997997 28997997 G A snp 2668.77 0/1 99 209 99 110 0.53 exonic rs1131543 LAT AU synonymous SNV NM_014387 exon6 c.G447A p.A149A 0.239217 0.3125 0.263044 0.2854 0.3251 Uncertain 16_29001460_A->C 16 29001460 29001460 A C snp 3142.77 1/1 99 115 0 115 1.0 intronic rs9929088 LAT AU NM_014387 exon11 c.4771-49A>C 0.820687 0.9177 0.7891 0.8652 Uncertain 16_29088221_A->G 16 29088221 29088221 A G snp 82.77 0/1 99 20 13 7 0.35 ncRNA_intronic rs2442141 RRN3P2 AU 0.280351 0.1617 Uncertain 16_29102189_-->T 16 29102189 29102189 - T indel 124.87 1/1 15 9 0 9 1.0 ncRNA_intronic rs397766726 RRN3P2 AU 0.985224 0.997 0.9379 0.9931 Uncertain 16_29105873_T->C 16 29105873 29105873 T C snp 149.77 0/1 62 7 2 5 0.71 ncRNA_intronic rs252264 RRN3P2 AU 0.403754 0.1647 Uncertain 16_29113263_C->T 16 29113263 29113263 C T snp 711.77 0/1 99 53 26 27 0.51 ncRNA_intronic rs1641985 RRN3P2 AU 0.404353 0.1647 0.4860 0.1722 Uncertain 16_29113498_T->- 16 29113498 29113498 T - indel 1109.73 0/1 99 115 43 72 0.63 ncRNA_intronic rs11366120 RRN3P2 AU 0.428315 0.248 0.0638 0.0397 Uncertain 16_29115577_G->C 16 29115577 29115577 G C snp 52.74 1/1 6 2 0 2 1.0 ncRNA_intronic rs36050267 RRN3P2 AU 0.408546 0.1647 Uncertain 16_29127350_T->C 16 29127350 29127350 T C snp 93.77 0/1 99 15 10 5 0.33 ncRNA_intronic rs1540389 RRN3P2 AU 0.174521 0.1617 Uncertain 16_29142059_G->C 16 29142059 29142059 G C snp 570.77 0/1 99 33 11 22 0.67 intergenic rs1642020 RRN3P2 AU 0.688099 0.5357 Uncertain 16_29142189_A->T 16 29142189 29142189 A T snp 469.77 0/1 99 35 12 23 0.66 intergenic rs1642021 RRN3P2 AU 0.662141 0.5377 Uncertain 16_29142204_A->G 16 29142204 29142204 A G snp 405.77 0/1 99 31 11 20 0.65 intergenic rs1642022 RRN3P2 AU 0.688698 0.5377 Uncertain 16_29150785_G->A 16 29150785 29150785 G A snp 279.77 0/1 99 28 13 15 0.54 intergenic rs1646119 RRN3P2 AU 0.41873 0.4058 Uncertain 16_29332380_T->C 16 29332380 29332380 T C snp 2137.77 1/1 99 82 0 82 1.0 ncRNA_exonic rs257878 SNX29P2 AU 0.996605 1 Uncertain 16_29332442_C->T 16 29332442 29332442 C T snp 669.77 0/1 99 46 20 26 0.57 ncRNA_intronic rs555018271 SNX29P2 AU 0.00219649 0.001 Uncertain 16_29337658_T->G 16 29337658 29337658 T G snp 751.77 0/1 99 54 25 29 0.54 ncRNA_intronic rs2934463 SNX29P2 AU 0.529553 0.5496 Uncertain 16_29340099_T->C 16 29340099 29340099 T C snp 119.77 0/1 95 9 3 6 0.67 ncRNA_intronic rs28598582 SNX29P2 AU 0.540535 0.5496 Uncertain 16_29342500_T->A 16 29342500 29342500 T A snp 1244.77 0/1 99 97 40 57 0.59 ncRNA_intronic rs9745636 SNX29P2 AU 0.514776 0.6052 Uncertain 16_29342517_T->G 16 29342517 29342517 T G snp 1388.77 0/1 99 108 42 66 0.61 ncRNA_intronic rs9745637 SNX29P2 AU 0.494209 0.6062 Uncertain 16_29342546_T->C 16 29342546 29342546 T C snp 1518.77 0/1 99 116 44 72 0.62 ncRNA_intronic rs9745639 SNX29P2 AU 0.563698 0.6062 Uncertain 16_29624247_C->A 16 29624247 29624247 C A snp 764.77 1/1 57 27 0 27 1.0 downstream rs2550510 SLC7A5P1 AU 0.823083 0.999 Uncertain 16_29624931_G->A 16 29624931 29624931 G A snp 274.77 0/1 99 33 21 12 0.36 ncRNA_exonic rs3743701 SLC7A5P1 AU 0.128195 0.3244 0.1314 0.3608 Uncertain 16_29644794_A->G 16 29644794 29644794 A G snp 2847.77 1/1 99 102 0 102 1.0 intergenic rs11150561 SLC7A5P1 AU 0.740016 0.9226 Uncertain 16_29645078_C->A 16 29645078 29645078 C A snp 869.77 1/1 69 32 0 32 1.0 intergenic rs12597368 SLC7A5P1 AU 0.738618 0.9206 Uncertain 16_29645105_A->- 16 29645105 29645105 A - indel 1136.73 1/1 99 52 0 52 1.0 intergenic rs35388990 SLC7A5P1 AU 0.653155 0.7282 Uncertain 16_29647700_C->T 16 29647700 29647700 C T snp 1296.77 1/1 99 72 19 53 0.74 intergenic rs200123374 SLC7A5P1 AU 0.738618 0.9206 Uncertain 16_29675928_C->T 16 29675928 29675928 C T snp 2070.77 0/1 99 161 82 79 0.49 exonic rs1050881 SPN AU synonymous SNV NM_001030288 exon2 c.C879T p.G293G 0.178115 0.3393 0.043593 0.1726 0.3485 Uncertain 16_29705854_C->T 16 29705854 29705854 C T snp 254.8 1/1 21 8 0 8 1.0 intronic rs9936468 QPRT AU NM_014298 exon2 c.15466-130C>T 1 1 Uncertain 16_29705974_-->T 16 29705974 29705974 - T indel 1463.73 0/1 99 94 50 44 0.47 intronic rs140872647 QPRT AU NM_014298 exon2 c.15466-10insT 0.125799 0.0823 0.170545 0.1608 0.0798 Uncertain 16_29706444_C->T 16 29706444 29706444 C T snp 656.77 0/1 99 89 59 30 0.34 exonic rs2303255 QPRT AU nonsynonymous SNV NM_014298 exon2 c.C473T p.A158V 0.0982428 0.0546 0.138932 0.2202 0.0956 0.36 T 0.009 P -1.004 T 0.01 T 0.008 T Pathogenic 16_29708350_A->G 16 29708350 29708350 A G snp 844.77 1/1 60 32 0 32 1.0 exonic rs9932770 QPRT AU nonsynonymous SNV NM_014298 exon3 c.A583G p.T195A 0.999201 1 0.998845 0.9997 1 0.42 T 0.0 P -1.006 T 0.0 T 0.001 T Pathogenic 16_29790669_T->A 16 29790669 29790669 T A snp 2547.77 1/1 99 92 0 92 1.0 intronic rs235634 ZG16 AU NM_152338 exon2 c.55+27T>A 0.886981 0.9405 0.897503 0.9642 0.9260 Uncertain 16_29790678_T->G 16 29790678 29790678 T G snp 2368.77 1/1 99 81 0 81 1.0 intronic rs183527 ZG16 AU NM_152338 exon2 c.55+36T>G 0.886981 0.9405 0.897722 0.9645 0.9260 Uncertain 16_29790767_A->G 16 29790767 29790767 A G snp 1449.77 1/1 99 46 0 46 1.0 intronic rs235635 ZG16 AU NM_152338 exon3 c.238-58A>G 0.89976 0.9405 Uncertain 16_29790864_G->A 16 29790864 29790864 G A snp 2201.77 1/1 99 82 0 82 1.0 exonic rs235636 ZG16 AU nonsynonymous SNV NM_152338 exon3 c.G94A p.G32S 0.825879 0.9405 0.839466 0.9441 0.9251 0.17 T 0.696 P -1.002 T Pathogenic 16_29791561_T->G 16 29791561 29791561 T G snp 7112.77 1/1 99 250 0 250 1.0 exonic rs235637 ZG16 AU nonsynonymous SNV NM_152338 exon4 c.T325G p.L109V 0.999002 1 0.999562 0.9998 1 0.49 T 0.000 P -0.943 T Pathogenic 16_29791721_G->C 16 29791721 29791721 G C snp 5551.77 1/1 99 199 0 199 1.0 exonic rs235638 ZG16 AU nonsynonymous SNV NM_152338 exon4 c.G485C p.S162T 0.886981 0.9405 0.897503 0.9649 0.9251 0.59 T 0.000 P -0.941 T Pathogenic 16_29791819_A->- 16 29791819 29791819 A - indel 838.73 1/1 78 26 0 26 1.0 UTR3 rs35586094 ZG16 AU 0.886781 0.9405 Uncertain 16_29809635_ACAC->- 16 29809635 29809638 ACAC - indel 669.73 1/1 36 12 0 12 1.0 intronic rs6145811 KIF22 AD NM_007317 exon3 c.7614-59_7614-56delACAC Uncertain 16_29811319_C->T 16 29811319 29811319 C T snp 3794.77 1/1 99 130 0 130 1.0 exonic rs235648 KIF22 AD synonymous SNV NM_007317 exon8 c.C1230T p.I410I 0.909112 0.9696 0.9376 Uncertain 16_29814234_G->A 16 29814234 29814234 G A snp 5539.77 1/1 99 211 0 211 1.0 exonic rs2450399 KIF22 AD synonymous SNV NM_007317 exon9 c.G1425A p.V475V 0.903155 0.9345 0.909343 0.9696 0.9377 Uncertain 16_29817998_C->T 16 29817998 29817998 C T snp 617.77 1/1 45 20 0 20 1.0 UTR5 rs111993640 MAZ AU 0.902157 0.9375 0.946320 0.9828 0.9521 Uncertain 16_29821744_G->A 16 29821744 29821744 G A snp 4733.77 1/1 99 164 0 164 1.0 UTR3 rs2516825 MAZ AU 0.991613 1 0.9990 1 Uncertain 16_29822841_A->C 16 29822841 29822841 A C snp 559.77 1/1 42 18 0 18 1.0 upstream;downstream rs11150572 PRRT2;MAZ UN 0.901957 0.9375 Uncertain 16_29823202_A->G 16 29823202 29823202 A G snp 666.77 1/1 51 18 0 18 1.0 upstream;downstream rs12923293 PRRT2;MAZ UN 0.943291 0.9375 0.9953 0.9308 Uncertain 16_29825126_T->C 16 29825126 29825126 T C snp 4437.77 1/1 99 153 0 153 1.0 exonic rs11150573 PRRT2 AD synonymous SNV NM_145239 exon2 c.T751C p.L251L 0.991813 1 0.990762 0.9980 1 CLINSIG=non-pathogenic,non-pathogenic;CLNDBN=not_provided,not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter,no_assertion_criteria_provided;CLNACC=RCV000127623.1,RCV000153784.2;CLNDSDB=MedGen,MedGen;CLNDSDBID=CN221809,CN169374 Uncertain 16_29908433_C->G 16 29908433 29908433 C G snp 195.77 0/1 99 20 10 10 0.5 exonic rs11649499 SEZ6L2 AU nonsynonymous SNV NM_201575 exon3 c.G221C p.R74P 0.750998 0.6052 0.880561 0.7865 0.6089 0.000 P -0.997 T 0.0 T 0.0 T Pathogenic 16_29912802_-->GGT 16 29912802 29912802 - GGT indel 4697.73 0/1 99 195 90 105 0.54 exonic rs140411458 ASPHD1 AU nonframeshift insertion NM_181718 exon1 c.510_511insGGT p.Q170delinsQG 0.202276 0.0804 0.357097 0.3384 0.0711 ID=COSM1478775;OCCURENCE=2(breast) Uncertain 16_30081367_G->T 16 30081367 30081367 G T snp 1501.77 0/1 99 123 59 64 0.52 intronic rs2071390 ALDOA AR NM_184043 exon8 c.2775+17G>T 0.192093 0.4603 0.119187 0.1938 0.4626 Uncertain 16_30097630_C->T 16 30097630 30097630 C T snp 399.77 0/1 99 33 17 16 0.48 exonic rs2289292 TBX6 AD synonymous SNV NM_004608 exon9 c.G1227A p.P409P 0.250799 0.4633 0.251347 0.3259 0.4664 Uncertain 16_30119525_C->A 16 30119525 30119525 C A snp 155.77 0/1 99 13 7 6 0.46 intronic rs8061772 GDPD3 AU NM_024307 exon2 c.3341-8C>A 0.895168 0.9812 0.845621 0.8828 0.9838 Uncertain 16_30134656_T->C 16 30134656 30134656 T C snp 146.03 1/1 12 6 0 6 1.0 upstream rs28529403 MAPK3 AU 0.533147 0.5823 Uncertain 16_30134679_C->T 16 30134679 30134679 C T snp 261.8 1/1 21 9 0 9 1.0 upstream rs61764202 MAPK3 AU 0.362021 0.5794 Uncertain 16_30198151_A->G 16 30198151 30198151 A G snp 2491.77 1/1 99 86 0 86 1.0 exonic rs1132812 CORO1A AR synonymous SNV NM_007074 exon4 c.A336G p.P112P 0.794129 0.9256 0.667513 0.6540 0.9299 Uncertain 16_30199584_G->A 16 30199584 30199584 G A snp 3453.77 0/1 99 250 110 140 0.56 intronic rs35900366 CORO1A AR NM_001193333 exon10 c.3040+14G>A 0.167732 0.0585 0.166308 0.0907 0.0682 Uncertain 16_30208527_C->T 16 30208527 30208527 C T snp 245.77 0/1 99 32 17 15 0.47 ncRNA_intronic rs45583938 SLX1A-SULT1A3 AU Uncertain 16_30380486_T->C 16 30380486 30380486 T C snp 862.77 1/1 63 27 0 27 1.0 intronic rs4238961 TBC1D10B AU NM_015527 exon9 c.11284-62T>C 0.384585 0.8294 Uncertain 16_30386262_C->T 16 30386262 30386262 C T snp 1510.77 1/1 99 51 0 51 1.0 intronic rs8046445 MYLPF AU NM_013292 exon1 c.3+81C>T 0.659744 0.9117 0.589575 Uncertain 16_30390314_T->C 16 30390314 30390314 T C snp 2562.77 1/1 99 71 0 71 1.0 intronic rs12447833 SEPT1 AU NM_052838 exon3 c.584-24T>C 0.819888 0.9127 0.751499 0.7261 0.9224 Uncertain 16_30393660_G->A 16 30393660 30393660 G A snp 6903.77 1/1 99 246 0 246 1.0 exonic rs4787643 SEPT1 AU synonymous SNV NM_052838 exon3 c.C171T p.A57A 0.773163 0.9127 0.701247 0.7138 0.9228 Uncertain 16_30393771_G->A 16 30393771 30393771 G A snp 2720.77 1/1 99 78 0 78 1.0 intronic rs4788409 SEPT1 AU NM_052838 exon11 c.4091-74G>A 0.772963 0.9127 0.695576 Uncertain 16_30407269_C->A 16 30407269 30407269 C A snp 4456.77 1/1 99 168 1 167 0.99 intronic rs13333093 ZNF48 AU NM_001214906 exon2 c.79+75C>A 0.658946 0.9127 Uncertain 16_30408765_C->T 16 30408765 30408765 C T snp 3345.77 1/1 99 117 1 116 0.99 exonic rs12921440 ZNF48 AU nonsynonymous SNV NM_152652 exon2 c.C194T p.A65V 0.660942 0.9127 0.570186 0.6523 0.9234 0.04 T 0.0 P -1.056 T 0.0 T 0.0 T Pathogenic 16_30410445_C->T 16 30410445 30410445 C T snp 1872.77 1/1 99 68 0 68 1.0 UTR3 rs4788413 ZNF48 AU 0.81869 0.9127 0.748921 0.7295 0.9239 Uncertain 16_30424889_T->- 16 30424889 30424889 T - indel 896.73 1/1 87 32 0 32 1.0 intronic rs11314620 ZNF771 AU NM_001142305 exon3 c.9501-3986delT 0.847444 0.8819 0.9404 1 Uncertain 16_30485393_G->C 16 30485393 30485393 G C snp 4996.77 1/1 99 177 0 177 1.0 intronic rs11574938 ITGAL AU NM_002209 exon2 c.1358-123G>C 0.594649 0.9722 0.6456 0.9692 Uncertain 16_30492690_A->C 16 30492690 30492690 A C snp 672.77 0/1 99 56 31 25 0.45 intronic rs10871452 ITGAL AU NM_002209 exon7 c.8601-69A>C 0.273762 0.2946 Uncertain 16_30495412_T->C 16 30495412 30495412 T C snp 1929.77 1/1 99 68 0 68 1.0 intronic rs2285459 ITGAL AU NM_002209 exon9 c.11275-21T>C 0.762979 0.9921 0.592812 0.6572 0.9891 Uncertain 16_30495652_G->A 16 30495652 30495652 G A snp 199.77 0/1 99 22 13 9 0.41 intronic rs9796793 ITGAL AU NM_002209 exon9 c.11426+68G>A 0.214657 0.7331 Uncertain 16_30495657_T->C 16 30495657 30495657 T C snp 452.77 1/1 36 13 0 13 1.0 intronic rs7197010 ITGAL AU NM_002209 exon9 c.11426+73T>C 0.763179 0.9921 Uncertain 16_30500761_G->A 16 30500761 30500761 G A snp 1835.77 1/1 99 64 0 64 1.0 intronic rs3087438 ITGAL AU NM_002209 exon11 c.16549+54G>A 0.312899 0.6101 Uncertain 16_30505513_A->G 16 30505513 30505513 A G snp 7768.77 1/1 99 250 0 250 1.0 intronic rs4350585 ITGAL AU NM_002209 exon12 c.21374-19A>G 0.795727 0.9931 0.650762 0.7381 0.9893 Uncertain 16_30507972_T->C 16 30507972 30507972 T C snp 54.74 1/1 6 2 0 2 1.0 intronic rs28708641 ITGAL AU NM_002209 exon15 c.23729+85T>C 0.313498 0.6111 Uncertain 16_30510571_C->T 16 30510571 30510571 C T snp 4134.77 1/1 99 144 0 144 1.0 intronic rs1557672 ITGAL AU NM_002209 exon16 c.26397+16C>T 0.27476 0.5675 0.286748 0.3274 0.5623 Uncertain 16_30516492_A->G 16 30516492 30516492 A G snp 180.9 1/1 15 5 0 5 1.0 intronic rs2073917 ITGAL AU NM_002209 exon19 c.32406-72A>G 0.593251 0.7331 Uncertain 16_30528239_G->T 16 30528239 30528239 G T snp 814.77 0/1 99 94 59 35 0.37 intronic rs35140453 ITGAL AU NM_002209 exon26 c.44135-54G>T 0.000798722 0.004 Uncertain 16_30529051_G->T 16 30529051 30529051 G T snp 1354.77 0/1 99 93 42 51 0.55 intronic rs181681259 ITGAL AU NM_002209 exon27 c.44868+25G>T 0.000199681 0.001 0.0001 0.0017 Uncertain 16_30615620_T->C 16 30615620 30615620 T C snp 1897.77 0/1 99 186 105 81 0.44 exonic rs565196540 ZNF689 AU nonsynonymous SNV NM_138447 exon3 c.A1468G p.I490V 0.000199681 0.001 0.0001 0.0016 0.12 T 1 N -0.966 T 0.0 T 0.0 T Pathogenic 16_30666113_A->C 16 30666113 30666113 A C snp 68.77 0/1 97 104 76 28 0.27 exonic rs769729172 PRR14 AU synonymous SNV NM_024031 exon8 c.A822C p.P274P 3.707e-05 0 Uncertain 16_30724070_G->T 16 30724070 30724070 G T snp 2227.77 1/1 99 80 0 80 1.0 exonic rs4889500 SRCAP AD synonymous SNV NM_006662 exon14 c.G2064T p.R688R 0.972644 1 0.962906 0.9906 1 Uncertain 16_30724221_C->T 16 30724221 30724221 C T snp 498.77 1/1 39 16 0 16 1.0 intronic rs4889501 SRCAP AD NM_006662 exon14 c.11991+85C>T 0.972644 1 Uncertain 16_30732406_C->G 16 30732406 30732406 C G snp 1710.77 1/1 99 51 0 51 1.0 intronic rs1470129 SRCAP AD NM_006662 exon21 c.20364-103C>G 0.98143 1 Uncertain 16_30734963_C->A 16 30734963 30734963 C A snp 4638.77 1/1 99 159 2 157 0.99 exonic rs4889502 SRCAP AD synonymous SNV NM_006662 exon25 c.C4218A p.S1406S 0.98123 1 0.976066 0.9939 1 Uncertain 16_30760364_G->C 16 30760364 30760364 G C snp 314.78 1/1 27 9 0 9 1.0 intronic rs368728198 PHKG2 AU,AR NM_001172432 exon2 c.95+128G>C 0.397364 0.7351 Uncertain 16_30760367_G->C 16 30760367 30760367 G C snp 171.9 1/1 15 8 0 8 1.0 intronic rs370871117 PHKG2 AU,AR NM_001172432 exon2 c.95+131G>C 0.40016 0.7371 Uncertain 16_30760370_G->C 16 30760370 30760370 G C snp 183.74 0/1 6 8 1 7 0.88 intronic rs375313391 PHKG2 AU,AR NM_001172432 exon2 c.95+134G>C Uncertain 16_30760373_G->C 16 30760373 30760373 G C snp 180.9 1/1 15 8 0 8 1.0 intronic rs368306015 PHKG2 AU,AR NM_001172432 exon2 c.95+137G>C Uncertain 16_30760376_G->C 16 30760376 30760376 G C snp 74.77 0/1 99 8 5 3 0.38 intronic PHKG2 AU,AR NM_001172432 exon2 c.95+140G>C Uncertain 16_30760379_G->C 16 30760379 30760379 G C snp 37.77 0/1 66 8 5 3 0.38 intronic rs371756757 PHKG2 AU,AR NM_001172432 exon2 c.95+143G>C Uncertain 16_30762640_C->T 16 30762640 30762640 C T snp 1844.77 1/1 99 60 0 60 1.0 intronic rs4889504 PHKG2 AU,AR NM_001172432 exon3 c.2461+38C>T 0.967452 1 0.958442 0.9894 1 Uncertain 16_30766247_G->A 16 30766247 30766247 G A snp 3754.77 1/1 99 143 1 142 0.99 intronic rs9941201 PHKG2 AU,AR NM_001172432 exon7 c.7361-1255G>A 0.972045 1 0.9980 1 Uncertain 16_30768493_CTCTGGC->- 16 30768493 30768499 CTCTGGC - indel 1548.73 1/1 54 24 0 24 1.0 UTR3 rs397792208 PHKG2 AU,AR 0.967452 1 Uncertain 16_30770267_C->G 16 30770267 30770267 C G snp 1013.77 1/1 75 28 0 28 1.0 UTR3 rs7188077 PHKG2 AU,AR 0.967452 1 Uncertain 16_30772040_A->G 16 30772040 30772040 A G snp 2149.77 1/1 99 75 0 75 1.0 UTR3 rs4889505 PHKG2 AU,AR 0.97484 1 0.967254 0.9860 1 Uncertain 16_30773822_T->C 16 30773822 30773822 T C snp 1002.77 1/1 75 26 0 26 1.0 UTR5 rs1550477 RNF40 AU 0.967452 1 0.962449 0.9905 1 Uncertain 16_30779716_A->G 16 30779716 30779716 A G snp 4457.77 1/1 99 151 0 151 1.0 exonic rs7195142 RNF40 AU nonsynonymous SNV NM_001207034 exon11 c.A1544G p.Q515R 1 1 1 1 0.83 T 0.0 P -0.964 T 0.0 T 0.0 T Pathogenic 16_30780828_A->G 16 30780828 30780828 A G snp 3172.77 1/1 99 116 0 116 1.0 exonic rs4889506 RNF40 AU synonymous SNV NM_001207034 exon15 c.A2193G p.L731L 0.98143 1 0.976066 0.9939 1 Uncertain 16_30786251_G->- 16 30786251 30786251 G - indel 3368.73 0/1 99 224 123 101 0.45 UTR3 rs778916863 RNF40 AU 0 0 Uncertain 16_30832463_A->C 16 30832463 30832463 A C snp 4442.77 1/1 99 139 1 138 0.99 intergenic rs6565205 ZNF629 AU 0.976637 1 Uncertain 16_30832475_T->C 16 30832475 30832475 T C snp 5258.77 1/1 99 172 0 172 1.0 intergenic rs6565206 ZNF629 AU 0.931709 0.999 Uncertain 16_30832701_A->C 16 30832701 30832701 A C snp 7503.77 1/1 99 248 0 248 1.0 intergenic rs8045550 ZNF629 AU 0.976637 1 Uncertain 16_30833246_C->T 16 30833246 30833246 C T snp 7609.77 1/1 99 250 0 250 1.0 intergenic rs9319587 ZNF629 AU 0.374601 0.9117 Uncertain 16_30833272_A->G 16 30833272 30833272 A G snp 7923.77 1/1 99 250 0 250 1.0 intergenic rs8046609 ZNF629 AU 0.973642 1 Uncertain 16_30833425_G->C 16 30833425 30833425 G C snp 2724.77 1/1 99 77 0 77 1.0 intergenic rs4889510 ZNF629 AU 0.973842 1 Uncertain 16_30886365_T->G 16 30886365 30886365 T G snp 44.74 1/1 6 2 0 2 1.0 intronic rs6420450 BCL7C AU NM_001286526 exon2 c.53912-13815T>G 0.982628 1 Uncertain 16_30886643_T->C 16 30886643 30886643 T C snp 2054.77 1/1 99 72 0 72 1.0 ncRNA_exonic rs897984 MIR4519 AU 0.457468 0.9147 0.5 . Uncertain 16_30900235_G->A 16 30900235 30900235 G A snp 2803.77 0/1 99 250 126 124 0.5 exonic rs3751871 BCL7C AU synonymous SNV NM_001286526 exon5 c.C474T p.D158D 0.0211661 0.0843 0.004310 0.0116 0.0897 Uncertain 16_30938811_A->G 16 30938811 30938811 A G snp 2327.77 1/1 99 84 0 84 1.0 intronic rs12930545 FBXL19 AU NM_001099784 exon3 c.2719+39A>G 0.493211 0.9048 0.546494 0.5868 0.9186 Uncertain 16_30964940_A->G 16 30964940 30964940 A G snp 7351.77 1/1 99 249 0 249 1.0 exonic rs9926903 ORAI3 AU synonymous SNV NM_152288 exon2 c.A663G p.Q221Q 0.988219 1 0.987764 0.9965 1 Uncertain 16_30970741_G->A 16 30970741 30970741 G A snp 54.74 1/1 6 2 0 2 1.0 intronic rs2305884 SETD1A AU NM_014712 exon3 c.455+234G>A 0.491613 0.9048 Uncertain 16_30977799_G->A 16 30977799 30977799 G A snp 343.78 1/1 27 10 0 10 1.0 intronic rs11150601 SETD1A AU NM_014712 exon8 c.7655+92G>A 0.491813 0.9048 Uncertain 16_30980902_T->C 16 30980902 30980902 T C snp 4909.77 1/1 99 188 0 188 1.0 intronic rs897986 SETD1A AU NM_014712 exon12 c.10870-20T>C 0.494209 0.9048 0.523322 0.5816 0.9146 Uncertain 16_30999142_A->G 16 30999142 30999142 A G snp 7123.77 1/1 99 248 0 248 1.0 exonic rs9938550 HSD3B7 AR nonsynonymous SNV NM_025193 exon7 c.A748G p.T250A 0.493411 0.9048 0.522713 0.5754 0.9147 0.64 T 0.0 P -0.972 T 0.0 T 0.001 T Pathogenic 16_30999462_T->C 16 30999462 30999462 T C snp 2318.77 1/1 99 84 0 84 1.0 exonic rs2305880 HSD3B7 AR synonymous SNV NM_025193 exon7 c.T1068C p.R356R 0.492812 0.9058 0.524396 0.6033 0.9164 Uncertain 16_31004926_C->T 16 31004926 31004926 C T snp 716.77 1/1 54 21 0 21 1.0 intronic rs7194921 STX1B AD NM_052874 exon3 c.664+121C>T 0.988419 1 Uncertain 16_31012781_G->A 16 31012781 31012781 G A snp 182.9 1/1 15 6 1 5 0.83 intronic rs12920772 STX1B AD NM_052874 exon9 c.8708-68G>A 0.636581 0.9117 Uncertain 16_31075175_G->A 16 31075175 31075175 G A snp 4221.77 1/1 99 144 0 144 1.0 exonic rs2303223 ZNF668 AU synonymous SNV NM_001172668 exon2 c.C606T p.G202G 0.345847 0.8859 0.295395 0.4567 0.8998 Uncertain 16_31075708_C->G 16 31075708 31075708 C G snp 7355.77 1/1 99 248 0 248 1.0 exonic rs2032917 ZNF668 AU nonsynonymous SNV NM_001172668 exon2 c.G73C p.V25L 0.983826 1 0.985136 0.9957 1 0.11 T 0.0 P -1.023 T 0.0 T 0.0 T Pathogenic 16_31088347_G->A 16 31088347 31088347 G A snp 3921.77 1/1 99 136 0 136 1.0 exonic rs749671 ZNF646 AU synonymous SNV NM_014699 exon2 c.G702A p.E234E 0.353435 0.8849 0.301447 0.3817 0.8967 Uncertain 16_31088625_A->G 16 31088625 31088625 A G snp 5905.77 1/1 99 204 0 204 1.0 exonic rs749670 ZNF646 AU nonsynonymous SNV NM_014699 exon2 c.A980G p.E327G 0.345647 0.8849 0.296598 0.3839 0.8950 0.65 T 0.002 P -0.958 T 0.019 T 0.007 T Pathogenic 16_31097574_G->C 16 31097574 31097574 G C snp 486.77 1/1 36 17 0 17 1.0 intronic rs4889535 PRSS53 AU NM_001039503 exon6 c.2394+70G>C 0.983027 1 Uncertain 16_31099011_T->C 16 31099011 31099011 T C snp 2235.77 0/1 99 199 100 99 0.5 exonic rs11150606 PRSS53 AU nonsynonymous SNV NM_001039503 exon3 c.A89G p.Q30R 0.19369 0.7639 0.015971 0.1129 0.8022 0.87 T 0.150 P -0.941 T 0.141 T 0.028 T Pathogenic 16_31104509_C->G 16 31104509 31104509 C G snp 139.03 1/1 12 4 0 4 1.0 intronic rs8050894 VKORC1 AU,AD NM_024006 exon2 c.2178-123C>G 0.416334 0.8849 ID=CS064464;DIS=Warfarin resistance, association with;TAG=DP;PUB=16611750 DP Uncertain 16_31104878_G->A 16 31104878 31104878 G A snp 1217.77 1/1 90 37 0 37 1.0 intronic rs9934438 VKORC1 AU,AD NM_024006 exon2 c.2288+136G>A 0.355831 0.8849 CLINSIG=drug-response;CLNDBN=Warfarin_response;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000054531.2;CLNDSDB=MedGen:OMIM;CLNDSDBID=CN078029:122700 ID=CS050012;DIS=Warfarin resistance, association with;TAG=DP;PUB=15358623 DP Uncertain 16_31121793_G->A 16 31121793 31121793 G A snp 2366.77 1/1 99 83 0 83 1.0 exonic rs14235 BCKDK AU synonymous SNV NM_005881 exon7 c.G615A p.T205T 0.359225 0.8849 0.302909 0.3803 0.8972 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000116491.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 16_31122229_C->T 16 31122229 31122229 C T snp 309.78 1/1 24 9 0 9 1.0 intronic rs1549296 BCKDK AU NM_001271926 exon8 c.1538+147C>T 0.988618 0.999 Uncertain 16_31131337_T->C 16 31131337 31131337 T C snp 256.8 1/1 21 8 0 8 1.0 intronic rs4889621 KAT8 AU NM_032188 exon2 c.2504-169T>C 0.985623 1 Uncertain 16_31141826_A->G 16 31141826 31141826 A G snp 3519.77 1/1 99 120 0 120 1.0 exonic rs1549295 KAT8 AU synonymous SNV NM_032188 exon9 c.A1056G p.P352P 0.986022 0.999 0.984070 0.9956 0.9994 Uncertain 16_31141880_A->G 16 31141880 31141880 A G snp 3798.77 1/1 99 131 0 131 1.0 exonic rs1549294 KAT8 AU synonymous SNV NM_032188 exon9 c.A1110G p.L370L 0.96246 1 0.961829 0.9896 1 Uncertain 16_31141993_C->T 16 31141993 31141993 C T snp 3333.77 1/1 99 116 0 116 1.0 intronic rs1549293 KAT8 AU NM_032188 exon9 c.12925+66C>T 0.360024 0.8849 Uncertain 16_31142381_A->G 16 31142381 31142381 A G snp 381.77 1/1 30 11 0 11 1.0 UTR3 rs2855479 KAT8 AU 0.979034 1 Uncertain 16_31151521_A->G 16 31151521 31151521 A G snp 208.84 1/1 18 7 0 7 1.0 intronic rs8047469 PRSS36 AU NM_173502 exon2 c.1156-93A>G Uncertain 16_31152717_T->C 16 31152717 31152717 T C snp 1893.77 1/1 99 69 0 69 1.0 intronic rs889547 PRSS36 AU NM_173502 exon4 c.2331-72T>C 0.988618 1 Uncertain 16_31153105_A->G 16 31153105 31153105 A G snp 4663.77 1/1 99 174 0 174 1.0 exonic rs1549300 PRSS36 AU synonymous SNV NM_001258290 exon11 c.T1683C p.D561D 0.879393 0.999 0.869401 0.9613 0.9997 Uncertain 16_31153780_G->A 16 31153780 31153780 G A snp 480.77 1/1 36 17 0 17 1.0 intronic rs889546 PRSS36 AU NM_173502 exon6 c.3343-21G>A 0.969848 1 0.9991 1 Uncertain 16_31154146_G->A 16 31154146 31154146 G A snp 5583.77 1/1 99 216 0 216 1.0 exonic rs1549299 PRSS36 AU synonymous SNV NM_001258290 exon9 c.C1269T p.S423S 0.488618 0.8909 0.573499 0.6873 0.9173 Uncertain 16_31191482_A->G 16 31191482 31191482 A G snp 5936.77 1/1 99 214 0 214 1.0 UTR5 rs929867 FUS AU,AD 0.939097 1 0.943276 0.9846 1 Uncertain 16_31195279_C->T 16 31195279 31195279 C T snp 4125.77 1/1 99 143 0 143 1.0 exonic rs1052352 FUS AU,AD synonymous SNV NM_004960 exon4 c.C291T p.Y97Y 0.473842 0.7431 0.458365 0.5186 0.7513 Uncertain 16_31230463_C->T 16 31230463 31230463 C T snp 1786.77 1/1 91 66 2 64 0.97 exonic rs7186832 TRIM72 AU synonymous SNV NM_001008274 exon3 c.C438T p.R146R 0.569489 0.745 0.623768 0.6553 0.7608 Uncertain 16_31271545_G->A 16 31271545 31271545 G A snp 185.9 1/1 15 7 0 7 1.0 intronic rs11865830 ITGAM AU NM_001145808 exon1 c.28+132G>A 0.61901 0.7004 Uncertain 16_31273129_T->C 16 31273129 31273129 T C snp 3823.77 1/1 99 138 0 138 1.0 intronic rs3764327 ITGAM AU NM_001145808 exon2 c.1733+11T>C 0.657548 0.6994 0.731148 0.6808 0.7308 Uncertain 16_31276937_C->T 16 31276937 31276937 C T snp 96.28 1/1 9 3 0 3 1.0 intronic rs3815801 ITGAM AU NM_001145808 exon3 c.5434+118C>T 0.615815 0.6994 Uncertain 16_31284618_-->A 16 31284618 31284618 - A indel 483.86 0/1 2 39 5 34 0.87 intronic rs201225943 ITGAM AU NM_001145808 exon8 c.13300-67insA Uncertain 16_31336519_T->C 16 31336519 31336519 T C snp 571.77 1/1 45 15 0 15 1.0 intronic rs7206295 ITGAM AU NM_001145808 exon20 c.65198-64T>C 0.686302 0.6954 Uncertain 16_31336719_G->A 16 31336719 31336719 G A snp 7540.77 1/1 99 250 1 249 1.0 exonic rs1143682 ITGAM AU synonymous SNV NM_000632 exon20 c.G2499A p.T833T 0.294529 0.6558 0.294999 0.3404 0.6907 Uncertain 16_31339625_G->A 16 31339625 31339625 G A snp 1165.77 1/1 87 33 0 33 1.0 intronic rs28372932 ITGAM AU NM_001145808 exon23 c.68166+74G>A 0.289936 0.6567 Uncertain 16_31342608_T->C 16 31342608 31342608 T C snp 725.77 1/1 54 25 0 25 1.0 intronic rs7188189 ITGAM AU NM_001145808 exon29 c.71211+12T>C 0.964457 1 0.932005 0.9348 0.9994 Uncertain 16_31343181_-->GTGTGTGCGA 16 31343181 31343181 - GTGTGTGCGA indel 790.75 1/1 24 13 0 13 1.0 UTR3 rs142861575 ITGAM AU Uncertain 16_31366629_A->G 16 31366629 31366629 A G snp 1913.77 0/1 99 140 64 76 0.54 intronic rs116881847 ITGAX AU NM_001286375 exon1 c.37+17A>G 0.00359425 0.0179 0.000539 0.0024 0.0247 Uncertain 16_31366758_C->T 16 31366758 31366758 C T snp 129.03 1/1 12 6 0 6 1.0 intronic rs9938765 ITGAX AU NM_001286375 exon1 c.37+146C>T 0.970847 1 Uncertain 16_31371193_C->G 16 31371193 31371193 C G snp 5734.77 1/1 99 204 0 204 1.0 intronic rs4264407 ITGAX AU NM_001286375 exon6 c.4576+42C>G 0.946086 0.9871 0.925735 0.9310 0.9942 Uncertain 16_31372290_T->C 16 31372290 31372290 T C snp 521.77 1/1 39 16 0 16 1.0 intronic rs11150617 ITGAX AU NM_001286375 exon9 c.5808-93T>C 0.298323 0.6706 Uncertain 16_31374535_C->G 16 31374535 31374535 C G snp 4164.77 1/1 99 141 0 141 1.0 exonic rs2230429 ITGAX AU nonsynonymous SNV NM_000887 exon14 c.C1550G p.P517R 0.298722 0.6766 0.294598 0.3313 0.7037 0 D 0.100 P -1.032 T 0.996 D 0.727 D Pathogenic 16_31380596_C->T 16 31380596 31380596 C T snp 203.84 1/1 18 9 0 9 1.0 intronic rs12930249 ITGAX AU NM_001286375 exon15 c.15829-1808C>T 0.618411 0.6845 Uncertain 16_31384423_AAG->- 16 31384423 31384425 AAG - indel 236.8 1/1 18 6 0 6 1.0 intronic rs148124533 ITGAX AU NM_001286375 exon20 c.17994-146_17994-144delAAG Uncertain 16_31392047_C->T 16 31392047 31392047 C T snp 1607.77 1/1 99 49 0 49 1.0 intronic rs11574646 ITGAX AU NM_001286375 exon28 c.25370+102C>T 0.188698 0.2133 Uncertain 16_31393308_G->A 16 31393308 31393308 G A snp 396.77 1/1 30 14 0 14 1.0 UTR3 rs2929 ITGAX AU 0.249201 0.2123 Uncertain 16_31393628_G->C 16 31393628 31393628 G C snp 717.77 1/1 54 18 0 18 1.0 UTR3 rs62051534 ITGAX AU 0.198482 0.2173 Uncertain 16_31405736_C->G 16 31405736 31405736 C G snp 672.77 1/1 51 18 0 18 1.0 intronic rs62051538 ITGAD AU NM_005353 exon2 c.981+74C>G 0.211262 0.2004 Uncertain 16_31409017_T->G 16 31409017 31409017 T G snp 35.77 0/1 64 22 19 3 0.14 intronic rs762406018 ITGAD AU NM_005353 exon4 c.4306+30T>G 0.0007 0 Uncertain 16_31409022_T->G 16 31409022 31409022 T G snp 34.77 0/1 63 20 14 6 0.3 intronic rs772568237 ITGAD AU NM_005353 exon4 c.4306+35T>G 0.0415 0.0102 Uncertain 16_31415004_C->T 16 31415004 31415004 C T snp 2017.77 1/1 99 65 0 65 1.0 intronic rs56304025 ITGAD AU NM_005353 exon7 c.10285+38C>T 0.207468 0.1994 0.188472 0.2071 0.1790 Uncertain 16_31422429_T->C 16 31422429 31422429 T C snp 790.77 1/1 60 21 0 21 1.0 exonic rs12444660 ITGAD AU synonymous SNV NM_005353 exon13 c.T1389C p.S463S 0.913938 0.8244 0.937048 0.9317 0.8194 Uncertain 16_31426065_G->A 16 31426065 31426065 G A snp 586.77 1/1 45 16 0 16 1.0 intronic rs62051540 ITGAD AU NM_005353 exon18 c.21499-115G>A 0.10024 0.1716 Uncertain 16_31427678_C->T 16 31427678 31427678 C T snp 551.77 1/1 42 16 0 16 1.0 intronic rs8056122 ITGAD AU NM_005353 exon19 c.22926+71C>T 0.521366 0.6488 Uncertain 16_31448170_T->C 16 31448170 31448170 T C snp 1769.77 0/1 99 192 111 81 0.42 exonic rs139777721 ZNF843 AU nonsynonymous SNV NM_001136509 exon2 c.A1G p.M1V 0.00119808 0.006 0.0002 0.0018 0 D 1 D -0.821 T 0.0 T 0.0 T Pathogenic 16_31470540_T->C 16 31470540 31470540 T C snp 176.77 0/1 99 17 9 8 0.47 UTR5 rs3813002 ARMC5 AD,AO 0.699081 0.6508 Uncertain 16_31471378_A->G 16 31471378 31471378 A G snp 915.77 0/1 99 75 33 42 0.56 intronic rs9926717 ARMC5 AD,AO NM_001301820 exon2 c.698+58A>G 0.384385 0.1974 0.2970 0.2055 Uncertain 16_31503751_A->G 16 31503751 31503751 A G snp 180.77 0/1 99 18 9 9 0.5 intronic rs4536493 C16orf58 AU NM_022744 exon3 c.1506+90A>G 0.678514 0.6032 Uncertain 16_31510506_A->C 16 31510506 31510506 A C snp 40.77 0/1 69 7 3 4 0.57 intronic rs191442054 C16orf58 AU NM_022744 exon9 c.8467-116A>C 0.00239617 0.0119 Uncertain 16_31519048_A->G 16 31519048 31519048 A G snp 1956.77 1/1 99 72 0 72 1.0 intronic rs11861164 C16orf58 AU NM_022744 exon12 c.16929-36A>G 0.904752 0.8264 0.910642 0.9142 0.7985 Uncertain 16_31539386_G->A 16 31539386 31539386 G A snp 480.77 0/1 99 42 20 22 0.52 intronic rs8050390 AHSP AU 0.267971 0.1508 Uncertain 16_31539430_G->A 16 31539430 31539430 G A snp 523.77 0/1 99 49 27 22 0.45 intronic rs4296276 AHSP AU 0.269369 0.2212 0.193012 0.2089 0.1993 Uncertain 16_31539934_G->T 16 31539934 31539934 G T snp 1051.77 0/1 99 82 39 43 0.52 exonic rs17677 AHSP AU synonymous SNV NM_016633 exon3 c.G231T p.L77L 0.317492 0.2222 0.246037 0.2240 0.2004 Uncertain 16_31575186_C->T 16 31575186 31575186 C T snp 741.77 0/1 99 68 35 33 0.49 intergenic rs7192364 AHSP AU 0.713658 0.5278 Uncertain 16_31580272_C->T 16 31580272 31580272 C T snp 704.77 0/1 99 38 14 24 0.63 ncRNA_exonic rs4889673 YBX3P1 AU 0.299321 0.1538 Uncertain 16_31580530_A->C 16 31580530 31580530 A C snp 1345.77 0/1 99 91 37 54 0.59 ncRNA_exonic rs4889548 YBX3P1 AU 0.310903 0.1538 0.4081 0.1579 Uncertain 16_31613626_T->- 16 31613626 31613626 T - indel 2536.73 0/1 99 137 71 66 0.48 intergenic rs34368131 YBX3P1 AU 0.274161 0.1528 Uncertain 16_31926619_G->A 16 31926619 31926619 G A snp 3446.77 1/1 99 116 0 116 1.0 exonic rs3850114 ZNF267 AU nonsynonymous SNV NM_003414 exon4 c.G1049A p.C350Y 0.855032 1 0.844390 0.9402 1 1 T 0.001 P -0.988 T 0.0 T 0.0 T Pathogenic 16_32890081_C->T 16 32890081 32890081 C T snp 48.74 1/1 6 44 15 29 0.66 ncRNA_intronic rs3878528 SLC6A10P AU Uncertain 16_32893880_G->A 16 32893880 32893880 G A snp 3589.77 1/1 99 145 4 141 0.97 ncRNA_exonic rs149083075 SLC6A10P AU 0.328075 0.4504 Uncertain 16_32936906_G->A 16 32936906 32936906 G A snp 133.9 1/1 15 15 0 15 1.0 intergenic rs62046808 SLC6A10P AU Uncertain 16_33372658_T->G 16 33372658 33372658 T G snp 523.77 0/1 99 76 51 25 0.33 intergenic rs57686759 LOC390705 AU 0.00798722 0.0218 Uncertain 16_33380003_C->T 16 33380003 33380003 C T snp 759.77 0/1 99 137 98 39 0.28 intergenic LOC390705 AU Uncertain 16_33391415_A->C 16 33391415 33391415 A C snp 761.77 0/1 99 41 13 28 0.68 intergenic rs357994 LOC390705 AU 0.551118 0.5556 Uncertain 16_33391962_C->T 16 33391962 33391962 C T snp 947.77 0/1 99 34 7 27 0.79 intergenic rs7403917 LOC390705 AU Uncertain 16_33392044_G->T 16 33392044 33392044 G T snp 762.77 0/1 99 217 156 61 0.28 intergenic rs80350834 LOC390705 AU Uncertain 16_33392148_T->C 16 33392148 33392148 T C snp 1033.77 0/1 99 172 115 57 0.33 intergenic rs200774570 LOC390705 AU Uncertain 16_33410561_T->C 16 33410561 33410561 T C snp 542.77 0/1 99 67 40 27 0.4 intergenic rs2632816 LOC390705 AU Uncertain 16_33410688_C->T 16 33410688 33410688 C T snp 1056.77 0/1 99 248 165 83 0.33 intergenic rs56055507 LOC390705 AU Uncertain 16_33410693_A->G 16 33410693 33410693 A G snp 470.77 0/1 99 250 200 50 0.2 intergenic LOC390705 AU Uncertain 16_33410777_G->T 16 33410777 33410777 G T snp 1817.77 0/1 99 194 94 100 0.52 intergenic rs74905055 LOC390705 AU Uncertain 16_33410802_G->A 16 33410802 33410802 G A snp 111.77 0/1 99 168 148 20 0.12 intergenic rs375442487 LOC390705 AU Uncertain 16_33424634_T->C 16 33424634 33424634 T C snp 59.77 0/1 88 15 12 3 0.2 intergenic rs60026982 LOC390705 AU 0.484026 0.4653 Uncertain 16_33424637_A->G 16 33424637 33424637 A G snp 50.77 0/1 79 17 14 3 0.18 intergenic rs62033013 LOC390705 AU 0.484026 0.4653 Uncertain 16_33424638_A->G 16 33424638 33424638 A G snp 43.77 0/1 72 18 15 3 0.17 intergenic rs60850085 LOC390705 AU 0.484026 0.4653 Uncertain 16_33424691_T->C 16 33424691 33424691 T C snp 490.77 0/1 99 89 66 23 0.26 intergenic rs2632824 LOC390705 AU 0.489417 0.4752 Uncertain 16_33424787_C->T 16 33424787 33424787 C T snp 1495.77 0/1 99 242 172 70 0.29 intergenic rs2632823 LOC390705 AU Uncertain 16_33424917_A->C 16 33424917 33424917 A C snp 1690.77 0/1 99 250 168 82 0.33 intergenic rs1906318 LOC390705 AU Uncertain 16_33424950_C->T 16 33424950 33424950 C T snp 1769.77 0/1 99 249 168 81 0.33 intergenic rs2927971 LOC390705 AU Uncertain 16_33534128_G->C 16 33534128 33534128 G C snp 476.77 0/1 99 80 37 43 0.54 ncRNA_intronic rs4247491 RNU6-76P AU Uncertain 16_33534161_T->C 16 33534161 33534161 T C snp 1113.77 0/1 99 135 61 74 0.55 ncRNA_intronic rs4247492 RNU6-76P AU Uncertain 16_33534194_-->A 16 33534194 33534194 - A indel 1980.73 0/1 99 143 69 74 0.52 ncRNA_intronic rs112954068 RNU6-76P AU Uncertain 16_33534198_C->A 16 33534198 33534198 C A snp 1835.77 0/1 99 181 69 112 0.62 ncRNA_intronic rs146867572 RNU6-76P AU Uncertain 16_33534205_T->C 16 33534205 33534205 T C snp 1776.77 0/1 99 185 73 112 0.61 ncRNA_intronic rs75274563 RNU6-76P AU Uncertain 16_33534209_T->A 16 33534209 33534209 T A snp 1829.77 0/1 99 186 72 114 0.61 ncRNA_intronic rs111304289 RNU6-76P AU Uncertain 16_33534212_C->T 16 33534212 33534212 C T snp 1867.77 0/1 99 188 72 116 0.62 ncRNA_intronic rs74015084 RNU6-76P AU Uncertain 16_33534254_C->A 16 33534254 33534254 C A snp 780.77 0/1 99 161 110 51 0.32 ncRNA_intronic rs1984919 RNU6-76P AU Uncertain 16_33534278_A->G 16 33534278 33534278 A G snp 1587.77 0/1 99 137 43 94 0.69 ncRNA_intronic rs10445205 RNU6-76P AU Uncertain 16_33534326_T->- 16 33534326 33534326 T - indel 521.73 0/1 99 49 14 35 0.71 ncRNA_intronic rs375310866 RNU6-76P AU Uncertain 16_33534330_G->A 16 33534330 33534330 G A snp 472.77 0/1 99 41 14 27 0.66 ncRNA_intronic rs28594967 RNU6-76P AU 0.413139 0.37 Uncertain 16_33534344_G->T 16 33534344 33534344 G T snp 317.77 0/1 99 32 12 20 0.63 ncRNA_intronic rs78083012 RNU6-76P AU Uncertain 16_33534346_G->T 16 33534346 33534346 G T snp 228.77 0/1 99 30 12 18 0.6 ncRNA_intronic rs375719784 RNU6-76P AU Uncertain 16_33534352_G->C 16 33534352 33534352 G C snp 324.77 0/1 99 28 10 18 0.64 ncRNA_intronic rs78884180 RNU6-76P AU Uncertain 16_33534354_C->T 16 33534354 33534354 C T snp 322.77 0/1 99 27 9 18 0.67 ncRNA_intronic rs74594913 RNU6-76P AU Uncertain 16_33534369_-->AA 16 33534369 33534369 - AA indel 416.73 0/1 99 15 6 9 0.6 ncRNA_intronic rs74800708 RNU6-76P AU Uncertain 16_33539475_G->T 16 33539475 33539475 G T snp 378.77 0/1 99 30 9 21 0.7 ncRNA_intronic rs3902216 RNU6-76P AU Uncertain 16_33539512_C->T 16 33539512 33539512 C T snp 1287.77 0/1 99 94 19 75 0.8 ncRNA_intronic rs78972024 RNU6-76P AU Uncertain 16_33539541_A->C 16 33539541 33539541 A C snp 1829.77 0/1 99 164 33 131 0.8 ncRNA_intronic rs80334711 RNU6-76P AU Uncertain 16_33539560_A->C 16 33539560 33539560 A C snp 153.77 0/1 99 204 180 24 0.12 ncRNA_intronic rs78715113 RNU6-76P AU Uncertain 16_33539587_C->T 16 33539587 33539587 C T snp 327.77 0/1 99 220 181 39 0.18 ncRNA_intronic rs76475526 RNU6-76P AU Uncertain 16_33539588_T->G 16 33539588 33539588 T G snp 1918.77 0/1 99 221 60 161 0.73 ncRNA_intronic rs79792636 RNU6-76P AU Uncertain 16_33539634_C->T 16 33539634 33539634 C T snp 1568.77 0/1 99 189 59 130 0.69 ncRNA_intronic rs76750868 RNU6-76P AU Uncertain 16_33539635_A->G 16 33539635 33539635 A G snp 42.77 0/1 71 187 161 26 0.14 ncRNA_intronic rs199828417 RNU6-76P AU Uncertain 16_33539648_C->A 16 33539648 33539648 C A snp 1103.77 0/1 99 169 58 111 0.66 ncRNA_intronic rs56161129 RNU6-76P AU Uncertain 16_33539699_A->C 16 33539699 33539699 A C snp 117.77 0/1 99 60 35 25 0.42 ncRNA_intronic rs75616192 RNU6-76P AU Uncertain 16_33539716_A->G 16 33539716 33539716 A G snp 58.77 0/1 87 36 27 9 0.25 ncRNA_intronic rs76373266 RNU6-76P AU Uncertain 16_33539722_T->C 16 33539722 33539722 T C snp 69.77 0/1 98 32 23 9 0.28 ncRNA_intronic rs79371014 RNU6-76P AU Uncertain 16_33539732_A->G 16 33539732 33539732 A G snp 70.77 0/1 99 27 18 9 0.33 ncRNA_intronic rs75594394 RNU6-76P AU Uncertain 16_33539737_C->G 16 33539737 33539737 C G snp 65.77 0/1 94 25 16 9 0.36 ncRNA_intronic rs78243523 RNU6-76P AU Uncertain 16_33730825_G->A 16 33730825 33730825 G A snp 139.77 0/1 99 22 13 9 0.41 intergenic rs2139072 ENPP7P13 AU Uncertain 16_33961094_C->G 16 33961094 33961094 C G snp 123.77 0/1 99 79 66 13 0.16 ncRNA_exonic rs761580150 LINC00273 AU 0 0 Uncertain 16_33961095_G->A 16 33961095 33961095 G A snp 82.77 0/1 99 79 63 16 0.2 ncRNA_exonic rs76554412 LINC00273 AU 0 0 1 N -1.010 T Uncertain 16_33961109_A->G 16 33961109 33961109 A G snp 292.77 0/1 99 125 99 26 0.21 ncRNA_exonic LINC00273 AU Uncertain 16_33961123_T->C 16 33961123 33961123 T C snp 691.77 0/1 99 134 86 48 0.36 ncRNA_exonic rs11861275 LINC00273 AU 0.0439297 0.001 0.0134 0 0.0 P -0.980 T Uncertain 16_33961132_C->T 16 33961132 33961132 C T snp 237.77 0/1 99 155 131 24 0.15 ncRNA_exonic LINC00273 AU 1 N -1.024 T Uncertain 16_33961159_A->G 16 33961159 33961159 A G snp 530.77 0/1 99 178 136 42 0.24 ncRNA_exonic rs62028806 LINC00273 AU 9.295e-05 0 1 N -1.026 T Uncertain 16_33961169_A->G 16 33961169 33961169 A G snp 542.77 0/1 99 186 148 38 0.2 ncRNA_exonic rs74349926 LINC00273 AU 9.29e-05 0 Uncertain 16_33961192_G->T 16 33961192 33961192 G T snp 71.77 0/1 99 194 178 16 0.08 ncRNA_exonic LINC00273 AU 1 N -1.012 T Uncertain 16_33961201_A->C 16 33961201 33961201 A C snp 392.77 0/1 99 185 157 28 0.15 ncRNA_exonic rs72806338 LINC00273 AU 1 N -1.024 T Uncertain 16_33961246_G->T 16 33961246 33961246 G T snp 450.77 0/1 99 180 154 26 0.14 ncRNA_exonic rs62028807 LINC00273 AU 1 N -1.008 T Uncertain 16_33961248_A->G 16 33961248 33961248 A G snp 551.77 0/1 99 182 149 33 0.18 ncRNA_exonic rs62028808 LINC00273 AU 1 N -1.011 T Uncertain 16_33961250_C->G 16 33961250 33961250 C G snp 132.77 0/1 99 191 173 18 0.09 ncRNA_exonic rs80127282 LINC00273 AU 0.0012 0 Uncertain 16_33961254_G->T 16 33961254 33961254 G T snp 1102.77 0/1 99 198 145 53 0.27 ncRNA_exonic rs62028809 LINC00273 AU 1 N -1.013 T Uncertain 16_33961265_A->G 16 33961265 33961265 A G snp 2517.77 0/1 99 225 123 102 0.45 ncRNA_exonic rs62028810 LINC00273 AU 0.0005 0 Uncertain 16_33961266_C->T 16 33961266 33961266 C T snp 408.77 0/1 99 227 196 31 0.14 ncRNA_exonic LINC00273 AU 1 N -1.008 T Uncertain 16_33961324_-->C 16 33961324 33961324 - C indel 5327.73 0/1 99 249 69 180 0.72 ncRNA_exonic rs75001436 LINC00273 AU Uncertain 16_33961327_G->T 16 33961327 33961327 G T snp 137.77 0/1 99 220 202 18 0.08 ncRNA_exonic rs79375500 LINC00273 AU 0.2199 0.2778 Uncertain 16_33961334_T->C 16 33961334 33961334 T C snp 4134.77 0/1 99 223 78 145 0.65 ncRNA_exonic rs62028811 LINC00273 AU Uncertain 16_33961337_-->G 16 33961337 33961337 - G indel 2218.73 0/1 99 222 73 149 0.67 ncRNA_exonic LINC00273 AU Uncertain 16_33961346_G->C 16 33961346 33961346 G C snp 1720.77 0/1 99 147 89 58 0.39 ncRNA_exonic LINC00273 AU Uncertain 16_33961349_T->G 16 33961349 33961349 T G snp 1742.77 0/1 99 153 94 59 0.39 ncRNA_exonic LINC00273 AU Uncertain 16_33961351_-->GGCCG 16 33961351 33961351 - GGCCG indel 3907.73 0/1 99 152 90 62 0.41 ncRNA_exonic LINC00273 AU Uncertain 16_33961355_A->G 16 33961355 33961355 A G snp 1710.77 0/1 99 154 95 59 0.38 ncRNA_exonic LINC00273 AU Uncertain 16_33961363_C->G 16 33961363 33961363 C G snp 1747.77 0/1 99 158 97 61 0.39 ncRNA_exonic LINC00273 AU 1 N -1.012 T Uncertain 16_33961366_-->GCGC 16 33961366 33961366 - GCGC indel 3640.73 0/1 99 158 98 60 0.38 ncRNA_exonic LINC00273 AU Uncertain 16_33961370_A->C 16 33961370 33961370 A C snp 3778.77 0/1 99 161 47 114 0.71 ncRNA_exonic rs72797450 LINC00273 AU 0.4914 0.4939 Uncertain 16_33961375_T->C 16 33961375 33961375 T C snp 1671.77 0/1 99 169 109 60 0.36 ncRNA_exonic LINC00273 AU 1 N -1.010 T Uncertain 16_33961378_C->T 16 33961378 33961378 C T snp 1804.77 0/1 99 171 108 63 0.37 ncRNA_exonic LINC00273 AU 1 N -1.039 T Uncertain 16_33961393_C->T 16 33961393 33961393 C T snp 1519.77 0/1 99 236 161 75 0.32 ncRNA_exonic rs766968812 LINC00273 AU 0.0003 0 1 N -1.010 T Uncertain 16_33961395_G->C 16 33961395 33961395 G C snp 4579.77 0/1 99 236 72 164 0.69 ncRNA_exonic rs199599611 LINC00273 AU 1 N -1.030 T Uncertain 16_33961402_T->C 16 33961402 33961402 T C snp 4362.77 0/1 99 236 77 159 0.67 ncRNA_exonic rs200479697 LINC00273 AU 1 N -1.008 T Uncertain 16_33961408_C->T 16 33961408 33961408 C T snp 4475.77 0/1 99 236 80 156 0.66 ncRNA_exonic rs767040695 LINC00273 AU 1 N -1.010 T Uncertain 16_33961418_A->G 16 33961418 33961418 A G snp 3968.77 0/1 99 246 111 135 0.55 ncRNA_exonic rs113700972 LINC00273 AU 0.4605 0.4437 Uncertain 16_33961428_C->G 16 33961428 33961428 C G snp 2868.77 0/1 99 224 128 96 0.43 ncRNA_exonic rs749895601 LINC00273 AU 1 N -1.010 T Uncertain 16_33961431_A->C 16 33961431 33961431 A C snp 2720.77 0/1 99 230 135 95 0.41 ncRNA_exonic LINC00273 AU 1 N -1.032 T Uncertain 16_33961432_G->C 16 33961432 33961432 G C snp 2650.77 0/1 99 233 139 94 0.4 ncRNA_exonic rs755768985 LINC00273 AU 1 N -1.010 T Uncertain 16_33961436_C->T 16 33961436 33961436 C T snp 2524.77 0/1 99 244 151 93 0.38 ncRNA_exonic rs779516654 LINC00273 AU Uncertain 16_33961437_A->C 16 33961437 33961437 A C snp 2591.77 0/1 99 248 155 93 0.38 ncRNA_exonic rs749721852 LINC00273 AU 1 N -1.008 T Uncertain 16_33961439_C->T 16 33961439 33961439 C T snp 2626.77 0/1 99 249 156 93 0.37 ncRNA_exonic rs755265192 LINC00273 AU Uncertain 16_33961444_G->A 16 33961444 33961444 G A snp 662.77 0/1 99 250 210 40 0.16 ncRNA_exonic rs74375516 LINC00273 AU 0.0002 0 1 N -1.008 T Uncertain 16_33961448_C->T 16 33961448 33961448 C T snp 626.77 0/1 99 250 210 40 0.16 ncRNA_exonic rs77612534 LINC00273 AU Uncertain 16_33961453_A->G 16 33961453 33961453 A G snp 4929.77 0/1 99 249 78 171 0.69 ncRNA_exonic rs74808338 LINC00273 AU 0.0043 0.0083 1 N -1.026 T Uncertain 16_33961464_C->T 16 33961464 33961464 C T snp 1214.77 0/1 99 250 191 59 0.24 ncRNA_exonic rs77704900 LINC00273 AU 8.389e-05 0 1 N -1.010 T Uncertain 16_33961465_G->A 16 33961465 33961465 G A snp 338.77 0/1 99 250 222 28 0.11 ncRNA_exonic rs74932417 LINC00273 AU 0.0035 0.0056 0.0 P -0.999 T Uncertain 16_33961471_C->G 16 33961471 33961471 C G snp 56.77 0/1 85 239 207 32 0.13 ncRNA_exonic LINC00273 AU 1 N -1.005 T Uncertain 16_33961474_G->C 16 33961474 33961474 G C snp 567.77 0/1 99 240 208 32 0.13 ncRNA_exonic rs78784184 LINC00273 AU 0.1125 0.0732 1 N -1.005 T Uncertain 16_33961475_G->A 16 33961475 33961475 G A snp 154.77 0/1 99 240 220 20 0.08 ncRNA_exonic rs75351386 LINC00273 AU Uncertain 16_33961481_A->C 16 33961481 33961481 A C snp 2540.77 0/1 99 191 94 97 0.51 ncRNA_exonic rs366164 LINC00273 AU 0.1372 0.0909 1 N -1.025 T Uncertain 16_33961482_T->C 16 33961482 33961482 T C snp 2750.77 0/1 99 192 94 98 0.51 ncRNA_exonic rs78161808 LINC00273 AU 0.1405 0.0923 1 N -1.016 T Uncertain 16_33961483_G->T 16 33961483 33961483 G T snp 333.77 0/1 99 204 182 22 0.11 ncRNA_exonic rs77018326 LINC00273 AU 0.0174 0.0061 1 N -1.016 T Uncertain 16_33961499_C->T 16 33961499 33961499 C T snp 2418.77 0/1 99 249 155 94 0.38 ncRNA_exonic rs75192280 LINC00273 AU 0.0651 0.0655 0.0 P -0.908 T Uncertain 16_33961500_A->G 16 33961500 33961500 A G snp 2674.77 0/1 99 250 89 161 0.64 ncRNA_exonic rs72797451 LINC00273 AU 0.0653 0.0679 0.0 P -0.911 T Uncertain 16_33961506_A->T 16 33961506 33961506 A T snp 174.77 0/1 99 250 227 23 0.09 ncRNA_exonic rs771690550 LINC00273 AU 0.0486 0.0526 1 N -1.008 T Uncertain 16_33961520_C->T 16 33961520 33961520 C T snp 1679.77 0/1 99 250 176 74 0.3 ncRNA_exonic rs75815313 LINC00273 AU 0.0019 0.0204 Uncertain 16_33961529_G->A 16 33961529 33961529 G A snp 1383.77 0/1 99 250 185 65 0.26 ncRNA_exonic rs77202604 LINC00273 AU 0.0022 0.0158 Uncertain 16_33961539_A->C 16 33961539 33961539 A C snp 4057.77 0/1 99 248 91 157 0.63 ncRNA_exonic rs72797452 LINC00273 AU 0.0215 0.0167 1 N -1.021 T Uncertain 16_33961541_T->G 16 33961541 33961541 T G snp 1931.77 0/1 99 250 155 95 0.38 ncRNA_exonic rs79025441 LINC00273 AU 0.0179 0 Uncertain 16_33961544_C->T 16 33961544 33961544 C T snp 129.77 0/1 99 250 214 36 0.14 ncRNA_exonic rs79909802 LINC00273 AU 0.0210 0.0051 Uncertain 16_33961556_A->G 16 33961556 33961556 A G snp 3596.77 0/1 99 249 115 134 0.54 ncRNA_exonic rs75931509 LINC00273 AU 0.0203 0.0213 Uncertain 16_33961563_C->G 16 33961563 33961563 C G snp 2814.77 0/1 99 250 82 168 0.67 ncRNA_exonic rs112604583 LINC00273 AU 0.1055 0.0278 1 N -1.020 T Uncertain 16_33961564_A->C 16 33961564 33961564 A C snp 1087.77 0/1 99 250 174 76 0.3 ncRNA_exonic rs746693575 LINC00273 AU 0.0019 0.0206 1 N -1.020 T Uncertain 16_33961570_G->C 16 33961570 33961570 G C snp 1186.77 0/1 99 250 186 64 0.26 ncRNA_exonic rs77649457 LINC00273 AU 1 N -1.020 T Uncertain 16_33961572_G->A 16 33961572 33961572 G A snp 1068.77 0/1 99 249 192 57 0.23 ncRNA_exonic rs77295773 LINC00273 AU 1 N -1.007 T Uncertain 16_33961580_C->A 16 33961580 33961580 C A snp 205.77 0/1 99 250 208 42 0.17 ncRNA_exonic rs80277405 LINC00273 AU 0.0246 0.015 Uncertain 16_33961581_G->A 16 33961581 33961581 G A snp 2445.77 0/1 99 250 120 130 0.52 ncRNA_exonic rs111958693 LINC00273 AU 0.0071 0 1 N -1.020 T Uncertain 16_33961597_A->C 16 33961597 33961597 A C snp 609.77 0/1 99 249 204 45 0.18 ncRNA_exonic rs74415086 LINC00273 AU 0.0024 0.015 1 N -1.010 T Uncertain 16_33961598_G->A 16 33961598 33961598 G A snp 502.77 0/1 99 250 216 34 0.14 ncRNA_exonic rs74517486 LINC00273 AU 0.00678914 0.0034 0.015 Uncertain 16_33961606_C->T 16 33961606 33961606 C T snp 1550.77 0/1 99 250 159 91 0.36 ncRNA_exonic rs77800732 LINC00273 AU 1 N -1.026 T Uncertain 16_33961607_G->T 16 33961607 33961607 G T snp 1387.77 0/1 99 250 186 64 0.26 ncRNA_exonic rs77756910 LINC00273 AU 0.1067 0.1118 Uncertain 16_33961621_G->A 16 33961621 33961621 G A snp 732.77 0/1 99 249 204 45 0.18 ncRNA_exonic rs74989315 LINC00273 AU 0.0067 0.0153 1 N -1.020 T Uncertain 16_33961628_A->G 16 33961628 33961628 A G snp 3859.77 0/1 99 250 94 156 0.62 ncRNA_exonic rs72797455 LINC00273 AU 0.1759 0.1562 Uncertain 16_33961634_G->A 16 33961634 33961634 G A snp 869.77 0/1 99 250 190 60 0.24 ncRNA_exonic rs375929052 LINC00273 AU 0 0 Uncertain 16_33961635_T->A 16 33961635 33961635 T A snp 64.77 0/1 93 250 211 39 0.16 ncRNA_exonic rs747372574 LINC00273 AU 0.0018 0 1 N -1.020 T Uncertain 16_33961643_G->A 16 33961643 33961643 G A snp 309.77 0/1 99 248 215 33 0.13 ncRNA_exonic rs78598646 LINC00273 AU 0.0196 0.0213 Uncertain 16_33961647_C->T 16 33961647 33961647 C T snp 1052.77 0/1 99 247 176 71 0.29 ncRNA_exonic rs75409961 LINC00273 AU 1 N -1.020 T Uncertain 16_33961658_A->G 16 33961658 33961658 A G snp 2957.77 0/1 99 240 107 133 0.55 ncRNA_exonic rs78363140 LINC00273 AU 0.0976 0.1686 Uncertain 16_33961659_G->A 16 33961659 33961659 G A snp 3582.77 0/1 99 243 70 173 0.71 ncRNA_exonic rs72797456 LINC00273 AU 0.1161 0.2273 1 N -1.021 T Uncertain 16_33961665_G->A 16 33961665 33961665 G A snp 411.77 0/1 99 250 210 40 0.16 ncRNA_exonic rs115157005 LINC00273 AU 0.1147 0.2064 1 N -1.020 T Uncertain 16_33961668_C->T 16 33961668 33961668 C T snp 417.77 0/1 99 248 217 31 0.13 ncRNA_exonic rs114130062 LINC00273 AU 0.1385 0.2385 1 N -1.007 T Uncertain 16_33961671_C->A 16 33961671 33961671 C A snp 303.77 0/1 99 248 215 33 0.13 ncRNA_exonic rs748429387 LINC00273 AU 0.0028 0.0045 1 N -1.007 T Uncertain 16_33961672_T->G 16 33961672 33961672 T G snp 2940.77 0/1 99 247 64 183 0.74 ncRNA_exonic rs72797457 LINC00273 AU 0.0120 0.0252 0.0 P -1.018 T Uncertain 16_33961684_G->T 16 33961684 33961684 G T snp 723.77 0/1 99 244 191 53 0.22 ncRNA_exonic rs76218310 LINC00273 AU 1 N -1.010 T Uncertain 16_33961689_G->A 16 33961689 33961689 G A snp 2116.77 0/1 99 238 147 91 0.38 ncRNA_exonic rs75866886 LINC00273 AU 0.3484 0.4458 0.0 P -1.028 T Uncertain 16_33961690_C->G 16 33961690 33961690 C G snp 420.77 0/1 99 237 204 33 0.14 ncRNA_exonic rs75534331 LINC00273 AU 0.0014 0.0013 1 N -1.024 T Uncertain 16_33961691_G->A 16 33961691 33961691 G A snp 1022.77 0/1 99 237 175 62 0.26 ncRNA_exonic rs79605728 LINC00273 AU 0.0113 0.0085 Uncertain 16_33961698_C->T 16 33961698 33961698 C T snp 439.77 0/1 99 234 203 31 0.13 ncRNA_exonic rs77417464 LINC00273 AU 0.3613 0.4427 0.0 P -0.908 T Uncertain 16_33961702_C->A 16 33961702 33961702 C A snp 2359.77 0/1 99 230 122 108 0.47 ncRNA_exonic rs79080425 LINC00273 AU 0.3855 0.4458 1.000 P Uncertain 16_33961705_A->G 16 33961705 33961705 A G snp 4396.77 0/1 99 226 51 175 0.77 ncRNA_exonic rs72797458 LINC00273 AU 0.3935 0.4524 0.0 P -1.022 T Uncertain 16_33961714_G->A 16 33961714 33961714 G A snp 1038.77 0/1 99 215 160 55 0.26 ncRNA_exonic rs74614742 LINC00273 AU 0.000199681 0.0003 0.0007 1 N -1.010 T Uncertain 16_33961725_G->A 16 33961725 33961725 G A snp 905.77 0/1 99 202 142 60 0.3 ncRNA_exonic rs76585222 LINC00273 AU 0.0918 0.1203 1 N -1.024 T Uncertain 16_33961746_C->A 16 33961746 33961746 C A snp 400.77 0/1 99 158 126 32 0.2 ncRNA_exonic rs80215975 LINC00273 AU 1 N -1.010 T Uncertain 16_33961748_C->T 16 33961748 33961748 C T snp 107.77 0/1 99 150 132 18 0.12 ncRNA_exonic rs776364476 LINC00273 AU 0.0007 0 Uncertain 16_33961751_C->A 16 33961751 33961751 C A snp 78.77 0/1 99 128 115 13 0.1 ncRNA_exonic rs79409546 LINC00273 AU 0.000199681 0.0002 0.0005 1 N -1.010 T Uncertain 16_33961752_T->C 16 33961752 33961752 T C snp 1927.77 0/1 99 113 31 82 0.73 ncRNA_exonic rs77324679 LINC00273 AU 0.3734 0.3865 1 N -1.026 T Uncertain 16_33961753_T->G 16 33961753 33961753 T G snp 1266.77 0/1 99 110 31 79 0.72 ncRNA_exonic LINC00273 AU 0.3671 0.3771 1 N -1.032 T Uncertain 16_33961759_G->C 16 33961759 33961759 G C snp 91.77 0/1 99 108 92 16 0.15 ncRNA_exonic rs779265337 LINC00273 AU 0.0003 0 1 N -1.010 T Uncertain 16_33961768_T->C 16 33961768 33961768 T C snp 890.28 0/1 99 99 28 71 0.72 ncRNA_exonic rs115947274 LINC00273 AU 0.0003 0 1 N -1.031 T Uncertain 16_33961772_G->A 16 33961772 33961772 G A snp 116.77 0/1 99 86 73 13 0.15 ncRNA_exonic rs77705528 LINC00273 AU 0.4478 0.4485 Uncertain 16_33961779_C->A 16 33961779 33961779 C A snp 136.77 0/1 99 78 66 12 0.15 ncRNA_exonic rs74332681 LINC00273 AU 0.4784 0.4790 0.0 P -0.908 T Uncertain 16_33961792_C->T 16 33961792 33961792 C T snp 151.77 0/1 99 69 52 17 0.25 ncRNA_exonic rs75294993 LINC00273 AU 1 N -1.010 T Uncertain 16_33961794_C->T 16 33961794 33961794 C T snp 122.77 0/1 99 71 62 9 0.13 ncRNA_exonic rs78260690 LINC00273 AU 0.1879 0.2205 1 N -1.010 T Uncertain 16_33961810_T->C 16 33961810 33961810 T C snp 735.77 0/1 99 65 31 34 0.52 ncRNA_exonic rs78551646 LINC00273 AU 0.0364 0.0310 1 N -1.023 T Uncertain 16_33961812_C->G 16 33961812 33961812 C G snp 209.77 0/1 99 66 49 17 0.26 ncRNA_exonic rs201198779 LINC00273 AU 0.0309 0.0265 1 N -1.016 T Uncertain 16_33961848_G->A 16 33961848 33961848 G A snp 189.77 0/1 99 73 59 14 0.19 ncRNA_exonic rs757080233 LINC00273 AU 0.0203 0.0348 1 N -1.028 T Uncertain 16_33961855_T->G 16 33961855 33961855 T G snp 1010.77 0/1 99 80 34 46 0.57 ncRNA_exonic rs72797460 LINC00273 AU 0.4956 0.4935 1 N -1.027 T Uncertain 16_33961873_G->A 16 33961873 33961873 G A snp 587.77 0/1 99 103 72 31 0.3 ncRNA_exonic rs75103985 LINC00273 AU 0.4706 0.4568 1 N -1.014 T Uncertain 16_33961877_C->T 16 33961877 33961877 C T snp 535.77 0/1 99 110 83 27 0.25 ncRNA_exonic rs75193282 LINC00273 AU 0.4480 0.4384 Uncertain 16_33961878_A->G 16 33961878 33961878 A G snp 875.77 0/1 99 111 67 44 0.4 ncRNA_exonic rs76097628 LINC00273 AU 0.4552 0.4384 1 N -1.008 T Uncertain 16_33961880_C->T 16 33961880 33961880 C T snp 871.77 0/1 99 112 69 43 0.38 ncRNA_exonic rs79165944 LINC00273 AU 0.4563 0.4444 Uncertain 16_33961881_A->G 16 33961881 33961881 A G snp 1905.77 0/1 99 114 35 79 0.69 ncRNA_exonic rs72797461 LINC00273 AU 0.4678 0.4706 1 N -1.015 T Uncertain 16_33961898_C->T 16 33961898 33961898 C T snp 260.77 0/1 99 132 115 17 0.13 ncRNA_exonic rs76477119 LINC00273 AU Uncertain 16_33961901_C->T 16 33961901 33961901 C T snp 189.77 0/1 99 137 120 17 0.12 ncRNA_exonic LINC00273 AU Uncertain 16_33961902_C->G 16 33961902 33961902 C G snp 1218.77 0/1 99 137 43 94 0.69 ncRNA_exonic rs72797463 LINC00273 AU 0.0054 0.0169 1 N -1.008 T Uncertain 16_33961918_G->T 16 33961918 33961918 G T snp 1147.77 0/1 99 154 94 60 0.39 ncRNA_exonic rs74202243 LINC00273 AU 0.4277 0.3981 Uncertain 16_33961936_G->A 16 33961936 33961936 G A snp 1029.77 0/1 99 153 90 63 0.41 ncRNA_exonic rs79877727 LINC00273 AU 0.4431 0.4184 1 N -1.024 T Uncertain 16_33961938_T->C 16 33961938 33961938 T C snp 1913.77 0/1 99 145 65 80 0.55 ncRNA_exonic rs76855422 LINC00273 AU 0.4443 0.42 1 N -1.045 T Uncertain 16_33961942_A->G 16 33961942 33961942 A G snp 953.77 0/1 99 144 96 48 0.33 ncRNA_exonic rs79267180 LINC00273 AU 0.0007 0 0.0 P -1.006 T Uncertain 16_33961944_G->C 16 33961944 33961944 G C snp 2313.77 0/1 99 145 49 96 0.66 ncRNA_exonic rs79289835 LINC00273 AU 0.4390 0.4222 0.0 P -1.036 T Uncertain 16_33961952_G->T 16 33961952 33961952 G T snp 683.77 0/1 99 163 125 38 0.23 ncRNA_exonic rs80061605 LINC00273 AU Uncertain 16_33961960_G->C 16 33961960 33961960 G C snp 2257.77 0/1 99 171 55 116 0.68 ncRNA_exonic rs78680157 LINC00273 AU 0.3938 0.3929 0.0 P -1.022 T Uncertain 16_33961961_G->A 16 33961961 33961961 G A snp 860.77 0/1 99 172 126 46 0.27 ncRNA_exonic rs76830030 LINC00273 AU 0.3727 0.4125 Uncertain 16_33961968_C->G 16 33961968 33961968 C G snp 1807.77 0/1 99 175 72 103 0.59 ncRNA_exonic rs75348294 LINC00273 AU 0.3634 0.3857 1 N -1.024 T Uncertain 16_33961975_C->T 16 33961975 33961975 C T snp 1997.77 0/1 99 177 87 90 0.51 ncRNA_exonic rs77416639 LINC00273 AU 0.3329 0.3636 1 N -1.005 T Uncertain 16_33961980_G->A 16 33961980 33961980 G A snp 166.77 0/1 99 178 158 20 0.11 ncRNA_exonic rs79294218 LINC00273 AU 0.0003 0 1 N -1.009 T Uncertain 16_33961982_G->T 16 33961982 33961982 G T snp 661.77 0/1 99 179 135 44 0.25 ncRNA_exonic rs77505384 LINC00273 AU Uncertain 16_33961990_C->G 16 33961990 33961990 C G snp 2203.77 0/1 99 180 59 121 0.67 ncRNA_exonic rs72797465 LINC00273 AU 0.0310 0.0156 1 N -1.033 T Uncertain 16_33962001_G->A 16 33962001 33962001 G A snp 1130.77 0/1 99 180 123 57 0.32 ncRNA_exonic rs75137392 LINC00273 AU 0.0149 0 0.0 P -1.044 T Uncertain 16_33962006_C->T 16 33962006 33962006 C T snp 1056.77 0/1 99 176 125 51 0.29 ncRNA_exonic rs78067901 LINC00273 AU 0.0110 0 Uncertain 16_33962009_T->C 16 33962009 33962009 T C snp 2921.77 0/1 99 177 55 122 0.69 ncRNA_exonic rs72797468 LINC00273 AU 0.0099 0 Uncertain 16_33962026_A->G 16 33962026 33962026 A G snp 1398.77 ./1 99 157 49 108 0.69 ncRNA_exonic rs72797469 LINC00273 AU 0.0013 0 1 N -1.016 T Uncertain 16_33962026_A->T 16 33962026 33962026 A T snp 1398.77 ./1 99 157 49 108 0.69 ncRNA_exonic rs72797469 LINC00273 AU 1 N -1.016 T Uncertain 16_33962028_A->C 16 33962028 33962028 A C snp 1109.77 0/1 99 154 103 51 0.33 ncRNA_exonic rs776838799 LINC00273 AU 0.0007 0 1 N -1.019 T Uncertain 16_33962040_A->T 16 33962040 33962040 A T snp 1157.77 0/1 99 145 94 51 0.35 ncRNA_exonic rs79907733 LINC00273 AU 0.0006 0 0.0 P -1.021 T Uncertain 16_33962051_G->C 16 33962051 33962051 G C snp 909.77 0/1 99 134 88 46 0.34 ncRNA_exonic rs79115664 LINC00273 AU 0.0006 0 0.0 P -1.009 T Uncertain 16_33962058_G->A 16 33962058 33962058 G A snp 339.77 0/1 99 121 98 23 0.19 ncRNA_exonic rs118113598 LINC00273 AU 0.0001 0 1 N -1.019 T Uncertain 16_33962060_G->A 16 33962060 33962060 G A snp 111.77 0/1 99 120 107 13 0.11 ncRNA_exonic rs74510802 LINC00273 AU Uncertain 16_33962078_C->T 16 33962078 33962078 C T snp 898.77 0/1 99 108 71 37 0.34 ncRNA_exonic rs72797471 LINC00273 AU Uncertain 16_33962082_G->C 16 33962082 33962082 G C snp 591.77 0/1 99 104 72 32 0.31 ncRNA_exonic rs72797473 LINC00273 AU 0.0 P -0.876 T Uncertain 16_33962089_C->T 16 33962089 33962089 C T snp 341.77 0/1 99 100 76 24 0.24 ncRNA_exonic rs78591377 LINC00273 AU 0.0 P -1.041 T Uncertain 16_33962098_G->A 16 33962098 33962098 G A snp 135.77 0/1 99 87 73 14 0.16 ncRNA_exonic LINC00273 AU 1 N -1.005 T Uncertain 16_33962100_A->C 16 33962100 33962100 A C snp 725.77 0/1 99 85 34 51 0.6 ncRNA_exonic rs78458740 LINC00273 AU 1 N -1.025 T Uncertain 16_33962108_G->T 16 33962108 33962108 G T snp 389.77 0/1 99 73 52 21 0.29 ncRNA_exonic rs78548339 LINC00273 AU Uncertain 16_33962111_G->A 16 33962111 33962111 G A snp 410.77 0/1 99 71 51 20 0.28 ncRNA_exonic rs368849695 LINC00273 AU Uncertain 16_33962121_G->C 16 33962121 33962121 G C snp 658.77 0/1 99 93 59 34 0.37 ncRNA_exonic rs371518521 LINC00273 AU 1 N -1.010 T Uncertain 16_33962129_C->G 16 33962129 33962129 C G snp 559.77 0/1 99 69 49 20 0.29 ncRNA_exonic rs373343127 LINC00273 AU 0.0 P -0.969 T Uncertain 16_33962130_A->G 16 33962130 33962130 A G snp 1076.77 0/1 99 68 29 39 0.57 ncRNA_exonic rs79151072 LINC00273 AU 0.0 P -0.998 T Uncertain 16_33962150_G->T 16 33962150 33962150 G T snp 800.77 0/1 99 88 55 33 0.38 ncRNA_exonic rs116070160 LINC00273 AU 0.0 P -1.044 T Uncertain 16_33962156_T->C 16 33962156 33962156 T C snp 892.77 0/1 99 91 54 37 0.41 ncRNA_exonic rs116822466 LINC00273 AU Uncertain 16_33962166_C->T 16 33962166 33962166 C T snp 416.77 0/1 99 106 82 24 0.23 ncRNA_exonic rs116049735 LINC00273 AU 0.0 P -1.048 T Uncertain 16_33962174_G->A 16 33962174 33962174 G A snp 859.77 0/1 99 116 73 43 0.37 ncRNA_exonic rs116347800 LINC00273 AU Uncertain 16_33962180_G->C 16 33962180 33962180 G C snp 2160.77 0/1 99 124 35 89 0.72 ncRNA_exonic rs75983468 LINC00273 AU Uncertain 16_33962184_C->T 16 33962184 33962184 C T snp 918.77 0/1 99 131 82 49 0.37 ncRNA_exonic rs115490511 LINC00273 AU 0.0 P -1.049 T Uncertain 16_33962199_T->G 16 33962199 33962199 T G snp 2516.77 0/1 99 160 46 114 0.71 ncRNA_exonic rs75905924 LINC00273 AU 1 N -1.026 T Uncertain 16_33962204_T->C 16 33962204 33962204 T C snp 586.77 0/1 99 170 128 42 0.25 ncRNA_exonic rs533879202 LINC00273 AU Uncertain 16_33962209_C->T 16 33962209 33962209 C T snp 623.77 0/1 99 180 133 47 0.26 ncRNA_exonic rs555596057 LINC00273 AU 0.0001 0 1 N -1.019 T Uncertain 16_33962210_G->A 16 33962210 33962210 G A snp 35.77 0/1 64 185 167 18 0.1 ncRNA_exonic LINC00273 AU Uncertain 16_33962215_C->T 16 33962215 33962215 C T snp 1079.77 0/1 99 192 116 76 0.4 ncRNA_exonic rs77604468 LINC00273 AU 1 N -1.042 T Uncertain 16_33962219_A->G 16 33962219 33962219 A G snp 1200.77 0/1 99 199 140 59 0.3 ncRNA_exonic rs79163818 LINC00273 AU Uncertain 16_33962220_C->T 16 33962220 33962220 C T snp 31.77 0/1 60 199 181 18 0.09 ncRNA_exonic LINC00273 AU 1 N -1.016 T Uncertain 16_33962223_C->G 16 33962223 33962223 C G snp 3016.77 0/1 99 197 48 149 0.76 ncRNA_exonic rs79996437 LINC00273 AU 1 N -1.037 T Uncertain 16_33962224_C->T 16 33962224 33962224 C T snp 1167.77 0/1 99 201 142 59 0.29 ncRNA_exonic rs77325341 LINC00273 AU 0.0002 0 1 N -1.005 T Uncertain 16_33962236_G->T 16 33962236 33962236 G T snp 310.77 0/1 99 221 179 42 0.19 ncRNA_exonic rs115692071 LINC00273 AU Uncertain 16_33962239_C->A 16 33962239 33962239 C A snp 819.77 0/1 99 227 179 48 0.21 ncRNA_exonic rs76886169 LINC00273 AU 1 N -1.005 T Uncertain 16_33962244_G->A 16 33962244 33962244 G A snp 733.77 0/1 99 229 170 59 0.26 ncRNA_exonic rs77360233 LINC00273 AU 1 N -1.005 T Uncertain 16_33962246_A->G 16 33962246 33962246 A G snp 3601.77 0/1 99 231 50 181 0.78 ncRNA_exonic rs74848779 LINC00273 AU Uncertain 16_33962252_C->T 16 33962252 33962252 C T snp 780.77 0/1 99 232 173 59 0.25 ncRNA_exonic rs77557381 LINC00273 AU Uncertain 16_33962253_G->A 16 33962253 33962253 G A snp 1602.77 0/1 99 232 146 86 0.37 ncRNA_exonic rs77668435 LINC00273 AU 1 N -1.019 T Uncertain 16_33962254_T->C 16 33962254 33962254 T C snp 1623.77 0/1 99 232 136 96 0.41 ncRNA_exonic LINC00273 AU 1 N -1.006 T Uncertain 16_33962255_G->T 16 33962255 33962255 G T snp 1564.77 0/1 99 233 137 96 0.41 ncRNA_exonic rs74828231 LINC00273 AU 1 D Uncertain 16_33962277_G->C 16 33962277 33962277 G C snp 1633.77 0/1 99 213 124 89 0.42 ncRNA_exonic rs79594372 LINC00273 AU 0.0 P -0.927 T Uncertain 16_33962278_T->C 16 33962278 33962278 T C snp 2682.77 ./1 99 212 43 169 0.8 ncRNA_exonic rs117717749 LINC00273 AU 0.0 P -0.952 T Uncertain 16_33962278_T->G 16 33962278 33962278 T G snp 2682.77 ./1 99 212 43 169 0.8 ncRNA_exonic LINC00273 AU 1 N -1.043 T Uncertain 16_33962280_C->T 16 33962280 33962280 C T snp 1598.77 0/1 99 213 135 78 0.37 ncRNA_exonic rs78406896 LINC00273 AU 1 N -1.011 T Uncertain 16_33962281_G->A 16 33962281 33962281 G A snp 1595.77 0/1 99 213 135 78 0.37 ncRNA_exonic rs78159351 LINC00273 AU 1 D Uncertain 16_33962291_G->A 16 33962291 33962291 G A snp 1732.77 0/1 99 220 136 84 0.38 ncRNA_exonic rs78404565 LINC00273 AU Uncertain 16_33962298_T->G 16 33962298 33962298 T G snp 3883.77 0/1 99 214 36 178 0.83 ncRNA_exonic rs72797474 LINC00273 AU 0.0 P -1.035 T Uncertain 16_33962320_G->T 16 33962320 33962320 G T snp 1435.77 0/1 99 181 104 77 0.43 ncRNA_exonic rs75485770 LINC00273 AU 1 N -0.925 T Uncertain 16_33962327_T->A 16 33962327 33962327 T A snp 1280.77 0/1 99 170 97 73 0.43 ncRNA_exonic rs76410790 LINC00273 AU 1 N -0.955 T Uncertain 16_33962329_C->G 16 33962329 33962329 C G snp 3269.77 0/1 99 169 26 143 0.85 ncRNA_exonic rs72797475 LINC00273 AU 1 N -0.965 T Uncertain 16_33962334_G->C 16 33962334 33962334 G C snp 1259.77 0/1 99 165 93 72 0.44 ncRNA_exonic rs79019195 LINC00273 AU 1 N -1.014 T Uncertain 16_33962351_G->T 16 33962351 33962351 G T snp 1159.77 0/1 99 131 73 58 0.44 ncRNA_exonic rs76793526 LINC00273 AU 0.0 P -0.993 T Uncertain 16_33962354_C->T 16 33962354 33962354 C T snp 1146.77 0/1 99 126 72 54 0.43 ncRNA_exonic rs74329268 LINC00273 AU Uncertain 16_33962361_C->A 16 33962361 33962361 C A snp 112.77 0/1 99 108 97 11 0.1 ncRNA_exonic LINC00273 AU 1 N -1.014 T Uncertain 16_33962365_C->T 16 33962365 33962365 C T snp 653.77 0/1 99 94 60 34 0.36 ncRNA_exonic rs76527999 LINC00273 AU 0.0 P -0.852 T Uncertain 16_33962369_C->T 16 33962369 33962369 C T snp 1099.77 0/1 99 81 36 45 0.56 ncRNA_exonic rs77075854 LINC00273 AU 1 D Uncertain 16_33962375_C->G 16 33962375 33962375 C G snp 929.77 0/1 99 70 33 37 0.53 ncRNA_exonic rs79504536 LINC00273 AU Uncertain 16_33962376_C->G 16 33962376 33962376 C G snp 914.77 0/1 99 69 33 36 0.52 ncRNA_exonic rs79457451 LINC00273 AU 1 N -1.005 T Uncertain 16_33962387_C->A 16 33962387 33962387 C A snp 276.77 0/1 99 59 43 16 0.27 ncRNA_exonic LINC00273 AU Uncertain 16_33962389_C->T 16 33962389 33962389 C T snp 255.77 0/1 99 54 39 15 0.28 ncRNA_exonic LINC00273 AU 1 N -1.010 T Uncertain 16_33962391_C->A 16 33962391 33962391 C A snp 514.77 0/1 99 49 27 22 0.45 ncRNA_exonic rs77260646 LINC00273 AU 0.0 P -0.852 T Uncertain 16_33962400_C->A 16 33962400 33962400 C A snp 481.77 0/1 99 40 22 18 0.45 ncRNA_exonic rs74410326 LINC00273 AU 0.0 P -1.026 T Uncertain 16_33962412_A->C 16 33962412 33962412 A C snp 1005.77 1/1 72 34 0 34 1.0 ncRNA_exonic rs72797477 LINC00273 AU 1 N -1.044 T Uncertain 16_33962416_G->A 16 33962416 33962416 G A snp 729.77 ./1 99 32 0 32 1.0 ncRNA_exonic rs75367546 LINC00273 AU 1 N -1.035 T Uncertain 16_33962416_G->T 16 33962416 33962416 G T snp 729.77 ./1 99 32 0 32 1.0 ncRNA_exonic LINC00273 AU Uncertain 16_33962422_C->A 16 33962422 33962422 C A snp 303.77 0/1 99 28 12 16 0.57 ncRNA_exonic rs77435361 LINC00273 AU 1 N -1.014 T Uncertain 16_33962425_G->A 16 33962425 33962425 G A snp 185.77 0/1 99 27 19 8 0.3 ncRNA_exonic LINC00273 AU 1 N -1.014 T Uncertain 16_33962433_G->A 16 33962433 33962433 G A snp 90.77 0/1 99 19 15 4 0.21 ncRNA_exonic rs569728718 LINC00273 AU 0.000199681 1 N -1.014 T Uncertain 16_33962435_G->- 16 33962435 33962435 G - indel 243.74 0/1 28 19 5 14 0.74 ncRNA_exonic rs149073555 LINC00273 AU 0 0 Uncertain 16_33962446_C->T 16 33962446 33962446 C T snp 146.77 0/1 99 13 8 5 0.38 ncRNA_exonic rs117915306 LINC00273 AU 0 0 Uncertain 16_33962455_C->T 16 33962455 33962455 C T snp 226.77 0/1 99 12 5 7 0.58 ncRNA_exonic rs62028813 LINC00273 AU Uncertain 16_33962456_G->T 16 33962456 33962456 G T snp 146.77 0/1 99 12 7 5 0.42 ncRNA_exonic rs75550881 LINC00273 AU 0 0 Uncertain 16_33962470_C->T 16 33962470 33962470 C T snp 66.77 0/1 95 9 6 3 0.33 ncRNA_exonic rs74988619 LINC00273 AU Uncertain 16_33962479_T->C 16 33962479 33962479 T C snp 122.77 0/1 66 6 2 4 0.67 ncRNA_exonic rs74016524 LINC00273 AU Uncertain 16_33965402_G->A 16 33965402 33965402 G A snp 87.77 0/1 99 62 57 5 0.08 intergenic rs75745752 LINC00273 AU 0.000199681 0.001 Uncertain 16_33965407_T->C 16 33965407 33965407 T C snp 421.77 0/1 99 63 12 51 0.81 intergenic rs140145020 LINC00273 AU Uncertain 16_33965416_C->G 16 33965416 33965416 C G snp 328.77 0/1 99 69 22 47 0.68 intergenic LINC00273 AU Uncertain 16_33965421_T->C 16 33965421 33965421 T C snp 320.77 0/1 99 69 21 48 0.7 intergenic LINC00273 AU Uncertain 16_33965425_T->C 16 33965425 33965425 T C snp 333.77 0/1 99 75 27 48 0.64 intergenic LINC00273 AU Uncertain 16_33965430_T->C 16 33965430 33965430 T C snp 275.77 0/1 99 78 29 49 0.63 intergenic rs111378921 LINC00273 AU Uncertain 16_33965447_G->C 16 33965447 33965447 G C snp 384.77 0/1 99 122 54 68 0.56 intergenic rs111820826 LINC00273 AU Uncertain 16_33965449_G->C 16 33965449 33965449 G C snp 236.77 0/1 99 124 112 12 0.1 intergenic rs74187619 LINC00273 AU Uncertain 16_33965452_T->C 16 33965452 33965452 T C snp 320.77 0/1 99 127 60 67 0.53 intergenic LINC00273 AU Uncertain 16_33965453_C->G 16 33965453 33965453 C G snp 322.77 0/1 99 128 61 67 0.52 intergenic LINC00273 AU Uncertain 16_33965456_T->C 16 33965456 33965456 T C snp 2668.77 0/1 99 173 31 142 0.82 intergenic rs79575365 LINC00273 AU Uncertain 16_33965481_T->C 16 33965481 33965481 T C snp 6449.77 0/1 99 247 39 208 0.84 intergenic rs62030474 LINC00273 AU Uncertain 16_33965487_C->T 16 33965487 33965487 C T snp 6691.77 0/1 99 249 40 209 0.84 intergenic rs62030475 LINC00273 AU Uncertain 16_33965507_G->C 16 33965507 33965507 G C snp 7339.77 0/1 99 250 27 223 0.89 intergenic rs74614199 LINC00273 AU 0.0210 0.0136 Uncertain 16_33965533_A->C 16 33965533 33965533 A C snp 7846.77 1/1 33 249 19 230 0.92 intergenic rs78817399 LINC00273 AU 0.1181 0.0947 Uncertain 16_33965538_A->G 16 33965538 33965538 A G snp 7930.79 1/1 23 249 20 229 0.92 intergenic rs146300192 LINC00273 AU 0.1111 0.0893 Uncertain 16_33965539_-->C 16 33965539 33965539 - C indel 6606.73 0/1 99 245 53 192 0.78 intergenic LINC00273 AU Uncertain 16_33965554_A->G 16 33965554 33965554 A G snp 7278.77 0/1 99 249 41 208 0.84 intergenic rs113793966 LINC00273 AU Uncertain 16_33965560_T->A 16 33965560 33965560 T A snp 7967.77 0/1 35 248 21 227 0.92 intergenic rs75603223 LINC00273 AU 0.2230 0.1938 Uncertain 16_33965561_T->C 16 33965561 33965561 T C snp 7186.77 0/1 99 245 42 203 0.83 intergenic LINC00273 AU Uncertain 16_33965589_G->A 16 33965589 33965589 G A snp 8317.77 1/1 99 247 13 234 0.95 intergenic rs62030476 LINC00273 AU 0.4030 0.3778 Uncertain 16_33965591_A->C 16 33965591 33965591 A C snp 7670.77 0/1 99 250 38 212 0.85 intergenic rs76771321 LINC00273 AU Uncertain 16_33965593_T->C 16 33965593 33965593 T C snp 7559.77 0/1 99 248 36 212 0.85 intergenic rs79737540 LINC00273 AU Uncertain 16_33965626_A->G 16 33965626 33965626 A G snp 7331.77 0/1 99 238 31 207 0.87 intergenic rs75700822 LINC00273 AU Uncertain 16_33965627_T->C 16 33965627 33965627 T C snp 7584.77 0/1 99 238 24 214 0.9 intergenic rs74218440 LINC00273 AU 0.0070 0.0070 Uncertain 16_33965643_G->C 16 33965643 33965643 G C snp 5847.77 0/1 99 200 31 169 0.84 intergenic rs142227859 LINC00273 AU Uncertain 16_33965644_A->G 16 33965644 33965644 A G snp 6830.77 1/1 99 199 13 186 0.93 intergenic rs72799208 LINC00273 AU Uncertain 16_33965646_G->A 16 33965646 33965646 G A snp 6095.77 0/1 99 200 27 173 0.86 intergenic LINC00273 AU Uncertain 16_33965647_T->G 16 33965647 33965647 T G snp 5675.77 0/1 99 203 44 159 0.78 intergenic LINC00273 AU Uncertain 16_33965652_T->C 16 33965652 33965652 T C snp 5672.77 0/1 99 203 44 159 0.78 intergenic LINC00273 AU Uncertain 16_33965655_-->G 16 33965655 33965655 - G indel 5306.73 0/1 99 204 45 159 0.78 intergenic rs773131494 LINC00273 AU Uncertain 16_33965673_C->T 16 33965673 33965673 C T snp 6765.77 0/1 99 249 46 203 0.82 intergenic rs200434350 LINC00273 AU Uncertain 16_33965677_T->C 16 33965677 33965677 T C snp 7239.77 0/1 99 250 48 202 0.81 intergenic rs201354069 LINC00273 AU Uncertain 16_33965682_-->C 16 33965682 33965682 - C indel 7521.73 0/1 99 246 35 211 0.86 intergenic LINC00273 AU Uncertain 16_33965689_A->G 16 33965689 33965689 A G snp 6729.77 0/1 99 238 36 202 0.85 intergenic LINC00273 AU Uncertain 16_33965703_-->T 16 33965703 33965703 - T indel 7422.73 0/1 99 228 33 195 0.86 intergenic rs148146797 LINC00273 AU Uncertain 16_33965711_G->A 16 33965711 33965711 G A snp 75.77 0/1 99 220 199 21 0.1 intergenic rs76711006 LINC00273 AU Uncertain 16_33965712_T->C 16 33965712 33965712 T C snp 6765.77 0/1 99 219 30 189 0.86 intergenic rs199592706 LINC00273 AU Uncertain 16_33965725_T->C 16 33965725 33965725 T C snp 6618.77 0/1 99 206 29 177 0.86 intergenic LINC00273 AU Uncertain 16_33965738_A->G 16 33965738 33965738 A G snp 6219.77 0/1 99 196 28 168 0.86 intergenic rs145290505 LINC00273 AU Uncertain 16_33965746_T->C 16 33965746 33965746 T C snp 6065.77 0/1 99 189 26 163 0.86 intergenic rs142721383 LINC00273 AU Uncertain 16_33965780_A->G 16 33965780 33965780 A G snp 275.77 0/1 99 16 6 10 0.63 intergenic rs420767 LINC00273 AU Uncertain 16_33965786_G->A 16 33965786 33965786 G A snp 59.77 0/1 88 13 10 3 0.23 intergenic LINC00273 AU Uncertain 16_33965812_C->T 16 33965812 33965812 C T snp 40.77 0/1 69 5 3 2 0.4 intergenic rs77236716 LINC00273 AU Uncertain 16_33965813_A->G 16 33965813 33965813 A G snp 86.77 0/1 30 4 1 3 0.75 intergenic rs76394418 LINC00273 AU Uncertain 16_34318731_T->G 16 34318731 34318731 T G snp 3011.77 1/1 99 97 0 97 1.0 intergenic rs6563853 LINC00273 AU 1 1 1 1 Uncertain 16_34578421_G->A 16 34578421 34578421 G A snp 305.77 0/1 99 37 25 12 0.32 intergenic rs76755585 UBE2MP1 AU 0.00379393 0.0169 Uncertain 16_34681938_C->T 16 34681938 34681938 C T snp 1741.77 1/1 99 58 0 58 1.0 intergenic rs237988 LINC01566 AU 0.967452 1 Uncertain 16_34682019_G->A 16 34682019 34682019 G A snp 1182.77 1/1 84 44 0 44 1.0 intergenic rs237989 LINC01566 AU 0.985024 1 Uncertain 16_34682251_G->T 16 34682251 34682251 G T snp 2293.77 0/1 99 210 112 98 0.47 intergenic rs78853950 LINC01566 AU 0.0285543 0.1349 0.0056 0.185 -1.049 T Uncertain 16_34682514_G->A 16 34682514 34682514 G A snp 90.28 1/1 9 3 0 3 1.0 intergenic rs237990 LINC01566 AU 0.967252 0.999 Uncertain 16_46565019_T->G 16 46565019 46565019 T G snp 1673.77 1/1 99 64 0 64 1.0 ncRNA_exonic rs1436436 ANKRD26P1 AU 0.97504 1 0.47 T 0.996 N -1.038 T Uncertain 16_46633600_A->C 16 46633600 46633600 A C snp 80.28 1/1 9 3 0 3 1.0 intronic rs12924503 SHCBP1 AU NM_024745 exon5 c.18102-142A>C Uncertain 16_46637746_T->C 16 46637746 46637746 T C snp 1317.77 1/1 96 43 0 43 1.0 intronic rs4967259 SHCBP1 AU NM_024745 exon7 c.22246-140T>C 0.983427 1 Uncertain 16_46642286_G->A 16 46642286 46642286 G A snp 591.77 0/1 99 68 39 29 0.43 exonic rs34559393 SHCBP1 AU synonymous SNV NM_024745 exon5 c.C612T p.N204N 0.101637 0.4008 0.014765 0.0573 0.3987 Uncertain 16_46642456_A->G 16 46642456 46642456 A G snp 101.28 1/1 9 4 0 4 1.0 intronic rs8052092 SHCBP1 AU NM_024745 exon9 c.26661+155A>G 0.954273 1 Uncertain 16_46651418_A->- 16 46651418 46651418 A - indel 903.73 1/1 63 21 0 21 1.0 intronic rs34949348 SHCBP1 AU NM_024745 exon11 c.35905-127delA 0.953874 1 Uncertain 16_46652209_A->C 16 46652209 46652209 A C snp 263.77 0/1 99 40 24 16 0.4 exonic rs11545690 SHCBP1 AU nonsynonymous SNV NM_024745 exon2 c.T179G p.M60R 0.0141773 0.0655 0.000692 0.0075 0.0923 0.01 T 1 N -1.041 T 0.022 T 0.019 T Pathogenic 16_46655210_A->G 16 46655210 46655210 A G snp 3359.77 1/1 99 130 0 130 1.0 exonic rs6598679 SHCBP1 AU nonsynonymous SNV NM_024745 exon1 c.T62C p.M21T 0.983427 1 0.983178 0.9955 1 0.86 T 0.0 P -1.005 T 0.0 T 0.0 T Pathogenic 16_46696284_G->A 16 46696284 46696284 G A snp 3840.77 1/1 99 132 0 132 1.0 exonic rs168745 VPS35 AD synonymous SNV NM_018206 exon15 c.C1938T p.H646H 0.974441 1 0.971167 0.9925 1 Uncertain 16_46697098_A->G 16 46697098 46697098 A G snp 874.77 0/1 99 60 24 36 0.6 intronic rs2304492 VPS35 AD NM_018206 exon4 c.2691+24A>G 0.46266 0.5585 0.456699 0.5718 0.5965 Uncertain 16_46705502_T->C 16 46705502 46705502 T C snp 1461.77 1/1 99 47 0 47 1.0 intronic rs36310 VPS35 AD NM_018206 exon6 c.11233-114T>C 0.82488 0.9921 Uncertain 16_46714529_A->G 16 46714529 46714529 A G snp 1899.77 1/1 99 61 0 61 1.0 intronic rs700582 VPS35 AD NM_018206 exon13 c.20199-53A>G 0.824681 0.9921 Uncertain 16_46715191_G->A 16 46715191 46715191 G A snp 1846.77 1/1 99 65 0 65 1.0 intronic rs700581 VPS35 AD NM_018206 exon14 c.20905-97G>A 0.983427 1 Uncertain 16_46743675_G->A 16 46743675 46743675 G A snp 3783.77 1/1 99 127 0 127 1.0 intronic rs4141491 MYLK3 AU NM_182493 exon2 c.1968+92G>A 0.82488 0.9921 Uncertain 16_46755213_C->G 16 46755213 46755213 C G snp 1015.77 1/1 75 29 0 29 1.0 intronic rs194055 MYLK3 AU NM_182493 exon5 c.13490+108C>G 0.974441 1 Uncertain 16_46764482_A->C 16 46764482 46764482 A C snp 1063.77 1/1 75 40 0 40 1.0 intronic rs36460 MYLK3 AU NM_182493 exon9 c.22889-22A>C 0.983626 1 0.982008 0.9949 1 Uncertain 16_46773752_G->T 16 46773752 46773752 G T snp 130.03 1/1 12 4 0 4 1.0 intronic rs28185 MYLK3 AU NM_182493 exon12 c.32353-216G>T 0.984225 1 Uncertain 16_46773999_C->A 16 46773999 46773999 C A snp 610.77 0/1 99 72 43 29 0.4 exonic rs28407821 MYLK3 AU nonsynonymous SNV NM_182493 exon2 c.G538T p.V180L 0.466054 0.5536 0.456328 0.5525 0.5781 0.26 T 0.127 P -0.930 T 0.002 T 0.001 T Pathogenic 16_47347780_G->A 16 47347780 47347780 G A snp 926.77 0/1 99 83 45 38 0.46 intronic rs2058769 ITFG1 AU NM_001305002 exon10 c.158056+46G>A 0.442292 0.744 0.328870 0.4564 0.7378 Uncertain 16_47627469_GTAA->- 16 47627469 47627472 GTAA - indel 1869.73 0/1 99 88 54 34 0.39 splicing rs780932692 PHKB AR NM_000293 exon11 c.132207+1_132207+4delGTAA 1.739e-05 0.0002 Pathogenic 16_47630539_T->C 16 47630539 47630539 T C snp 550.77 0/1 99 34 15 19 0.56 intronic rs12445959 PHKB AR NM_000293 exon13 c.135181+97T>C 0.100639 0.1349 Uncertain 16_47684687_ATTA->- 16 47684687 47684690 ATTA - indel 964.73 0/1 99 42 20 22 0.52 intronic rs150516784 PHKB AR NM_000293 exon20 c.189480-54_189480-51delATTA 0.45028 0.7292 0.336492 Uncertain 16_48118036_C->T 16 48118036 48118036 C T snp 297.78 1/1 24 8 0 8 1.0 intronic rs4785376 ABCC12 AU NM_033226 exon2 c.359+52C>T 0.997604 1 0.998057 0.9994 1 Uncertain 16_48122582_G->A 16 48122582 48122582 G A snp 3078.77 1/1 99 117 0 117 1.0 exonic rs7193955 ABCC12 AU nonsynonymous SNV NM_033226 exon24 c.C3349T p.R1117C 0.591254 0.8889 0.596062 0.7190 0.8961 0.05 T 0.0 P -0.981 T 0.004 T 0.006 T Pathogenic 16_48180110_C->T 16 48180110 48180110 C T snp 188.77 0/1 99 31 22 9 0.29 intronic rs16945894 ABCC12 AU NM_033226 exon29 c.62591-106C>T 0.0507188 0.0952 Uncertain 16_48204045_T->G 16 48204045 48204045 T G snp 994.77 0/1 99 112 69 43 0.38 exonic rs201164805 ABCC11 AD nonsynonymous SNV NM_032583 exon28 c.A3862C p.I1288L 0.000399361 0.002 0.0002 0.0025 1 T 1 D -0.561 T 0.081 T 0.053 T Pathogenic 16_48211126_C->T 16 48211126 48211126 C T snp 482.77 0/1 99 29 13 16 0.55 intronic rs76500528 ABCC11 AD NM_145186 exon5 c.9840+102C>T 0.00339457 0.0159 Uncertain 16_48258198_C->T 16 48258198 48258198 C T snp 1963.77 1/1 99 70 0 70 1.0 exonic rs17822931 ABCC11 AD nonsynonymous SNV NM_032583 exon5 c.G538A p.G180R 0.300919 0.7798 0.098000 0.2251 0.8820 0.01 T 1.000 P -0.916 T 1.0 D 1.0 D CLINSIG=non-pathogenic|non-pathogenic|non-pathogenic;CLNDBN=Apocrine_gland_secretion\x2c_variation_in|Axillary_odor|Colostrum_secretion;CLNREVSTAT=no_assertion_criteria_provided|no_assertion_criteria_provided|no_assertion_criteria_provided;CLNACC=RCV000003737.3|RCV000003738.2|RCV000003739.2;CLNDSDB=MedGen:OMIM|.|.;CLNDSDBID=C1861696:117800|.|. ID=CM062373;DIS=Earwax type, association with;TAG=DFP;PUB=16444273 DFP Pathogenic 16_49412370_C->A 16 49412370 49412370 C A snp 858.77 0/1 99 58 25 33 0.57 intronic rs751967122 C16orf78 AU NM_144602 exon3 c.4530-10C>A 0.0001 0.0017 Uncertain 16_49412531_A->G 16 49412531 49412531 A G snp 2284.77 1/1 99 86 1 85 0.99 intronic rs27813 C16orf78 AU NM_144602 exon3 c.4654+27A>G 0.723442 0.7649 0.679412 0.6578 0.7490 Uncertain 16_49412693_A->G 16 49412693 49412693 A G snp 267.8 1/1 21 8 0 8 1.0 intronic rs27814 C16orf78 AU NM_144602 exon3 c.4654+189A>G 0.458466 0.3879 Uncertain 16_49430229_C->T 16 49430229 49430229 C T snp 552.77 1/1 42 15 0 15 1.0 intronic rs27795 C16orf78 AU NM_144602 exon4 c.22483-104C>T 0.382188 0.3442 Uncertain 16_49557441_A->C 16 49557441 49557441 A C snp 931.77 0/1 99 82 43 39 0.48 intronic rs2287313 ZNF423 AR,AD NM_001271620 exon2 c.32349-93A>C 0.59405 0.4722 Uncertain 16_49557482_C->T 16 49557482 49557482 C T snp 2215.77 0/1 99 182 92 90 0.49 intronic rs2287314 ZNF423 AR,AD NM_001271620 exon2 c.32349-52C>T 0.578874 0.4712 Uncertain 16_49670390_A->G 16 49670390 49670390 A G snp 8207.77 1/1 99 250 0 250 1.0 exonic rs3803667 ZNF423 AR,AD synonymous SNV NM_015069 exon4 c.T2673C p.C891C 0.204872 0.2073 0.210065 0.2165 0.1987 Uncertain 16_49672520_A->G 16 49672520 49672520 A G snp 4616.77 1/1 99 161 0 161 1.0 exonic rs3803665 ZNF423 AR,AD synonymous SNV NM_015069 exon4 c.T543C p.R181R 0.578674 0.4603 0.570022 0.4796 0.4626 Uncertain 16_49764948_C->T 16 49764948 49764948 C T snp 429.77 0/1 99 28 14 14 0.5 intronic rs2292155 ZNF423 AR,AD NM_001271620 exon6 c.239697+66C>T 0.357029 0.251 Uncertain 16_50059279_C->A 16 50059279 50059279 C A snp 1371.77 1/1 96 52 0 52 1.0 intronic rs9934704 CNEP1R1 AU NM_001281789 exon1 c.25+28C>A 0.905751 0.9891 0.923301 0.8949 0.9865 Uncertain 16_50059314_A->G 16 50059314 50059314 A G snp 906.77 1/1 66 37 0 37 1.0 intronic rs9924833 CNEP1R1 AU NM_001281789 exon1 c.25+63A>G 0.905751 0.9891 0.918633 Uncertain 16_50059500_C->T 16 50059500 50059500 C T snp 2699.77 1/1 99 100 0 100 1.0 intronic rs7194313 CNEP1R1 AU NM_153261 exon2 c.335-61C>T 0.929712 0.9891 0.913710 Uncertain 16_50067905_G->A 16 50067905 50067905 G A snp 642.78 0/1 27 25 2 23 0.92 intronic rs9302745 CNEP1R1 AU NM_001281789 exon5 c.8786-107G>A 0.900958 0.9891 Uncertain 16_50069312_C->G 16 50069312 50069312 C G snp 2898.77 1/1 99 109 0 109 1.0 intronic rs2041918 CNEP1R1 AU NM_001281789 exon6 c.10101-15C>G 0.605831 0.6458 0.619263 0.7019 0.6803 Uncertain 16_50100253_T->A 16 50100253 50100253 T A snp 6166.77 1/1 99 236 0 236 1.0 intronic rs4389139 HEATR3 AU NM_182922 exon2 c.235-24T>A 0.598642 0.6429 0.608022 0.6948 0.6317 Uncertain 16_50102618_-->AAAT 16 50102618 50102618 - AAAT indel 7202.73 1/1 99 106 0 106 1.0 intronic rs112009183 HEATR3 AU NM_182922 exon3 c.2648-72insAAAT 0.997604 1 Uncertain 16_50106594_T->C 16 50106594 50106594 T C snp 1764.77 1/1 99 68 0 68 1.0 exonic rs2287197 HEATR3 AU synonymous SNV NM_182922 exon5 c.T591C p.F197F 0.599441 0.6429 0.601647 0.6872 0.6348 Uncertain 16_50109478_G->A 16 50109478 50109478 G A snp 3123.77 1/1 99 111 0 111 1.0 splicing rs12931497 HEATR3 AU NM_182922 exon6 c.9439-3G>A 0.661741 0.6429 0.672822 0.7074 0.6343 Pathogenic 16_50112972_T->- 16 50112972 50112972 T - indel 208.75 1/1 24 10 0 10 1.0 intronic rs398029305 HEATR3 AU NM_182922 exon7 c.12887+43delT 0.996006 1 0.9962 0.9974 Uncertain 16_50117829_T->- 16 50117829 50117829 T - indel 764.73 1/1 35 50 5 45 0.9 intronic rs398029306 HEATR3 AU NM_182922 exon8 c.17805-18delT 0.515375 0.5238 0.4884 0.4744 Uncertain 16_50118245_G->A 16 50118245 50118245 G A snp 1271.77 1/1 93 43 0 43 1.0 intronic rs877639 HEATR3 AU NM_182922 exon9 c.18160+43G>A 0.658746 0.6429 0.669821 0.7088 0.6347 Uncertain 16_50120122_C->T 16 50120122 50120122 C T snp 341.78 1/1 27 9 0 9 1.0 splicing rs2287196 HEATR3 AU NM_182922 exon11 c.20083-3C>T 0.659345 0.6429 0.669591 0.7191 0.6605 Pathogenic 16_50134009_A->- 16 50134009 50134009 A - indel 180.87 1/1 15 5 0 5 1.0 intronic rs11355227 HEATR3 AU NM_182922 exon13 c.34098-131delA 0.76897 0.6538 Uncertain 16_50251590_G->A 16 50251590 50251590 G A snp 1471.77 1/1 99 55 0 55 1.0 intronic rs3887556 PAPD5 AU NM_001040285 exon6 c.64711+16G>A 0.565296 0.6488 0.604914 0.6801 0.6819 Uncertain 16_50261735_C->T 16 50261735 50261735 C T snp 4830.77 1/1 99 180 0 180 1.0 intronic rs4624170 PAPD5 AU NM_001040285 exon12 c.74886-14C>T 0.999601 1 0.999917 1.0000 1 Uncertain 16_50322060_C->T 16 50322060 50322060 C T snp 2147.77 0/1 99 195 108 87 0.45 UTR5 rs745977969 ADCY7 AU 0 0 Uncertain 16_50326661_A->G 16 50326661 50326661 A G snp 6851.77 1/1 99 244 0 244 1.0 exonic rs8051594 ADCY7 AU synonymous SNV NM_001114 exon4 c.A612G p.A204A 0.994409 1 0.993613 0.9982 1 Uncertain 16_50328526_C->T 16 50328526 50328526 C T snp 1684.77 1/1 99 57 0 57 1.0 intronic rs2302717 ADCY7 AU NM_001114 exon6 c.6460-24C>T 0.414936 0.8036 0.203650 0.4215 0.8395 Uncertain 16_50345710_-->C 16 50345710 50345710 - C indel 218.73 0/1 90 46 8 38 0.83 intronic ADCY7 AU NM_001114 exon19 c.23607+13insC Uncertain 16_50349289_C->T 16 50349289 50349289 C T snp 1965.77 0/1 99 179 90 89 0.5 exonic rs140459003 ADCY7 AU nonsynonymous SNV NM_001114 exon25 c.C3116T p.T1039I 0.00199681 0.0099 0.0008 0.0112 0.19 T 1 N -0.946 T 0.011 T 0.014 T Pathogenic 16_50367633_-->A 16 50367633 50367633 - A indel 130.8 1/1 18 8 0 8 1.0 intronic rs397804855 BRD7 AU NM_013263 exon10 c.14487+25insA 0.934704 0.9405 0.928938 0.9573 0.9744 Uncertain 16_50368663_G->A 16 50368663 50368663 G A snp 1931.77 1/1 99 82 0 82 1.0 exonic rs1062348 BRD7 AU synonymous SNV NM_001173984 exon7 c.C846T p.A282A 0.250399 0.497 0.156356 0.1569 0.4736 Uncertain 16_50642201_G->C 16 50642201 50642201 G C snp 3355.77 1/1 99 121 0 121 1.0 splicing rs933566 NKD1 AU NM_033119 exon4 c.59740-3G>C 0.735024 0.9881 0.565482 0.5991 0.9884 Pathogenic 16_50827601_A->G 16 50827601 50827601 A G snp 1499.77 0/1 99 103 49 54 0.52 intronic rs2302759 CYLD AD NM_015247 exon18 c.43966+26A>G 0.798323 0.7034 0.862808 0.7863 0.7014 ID=COSN165198;OCCURENCE=1(lung),1(breast) Uncertain 16_51098427_G->C 16 51098427 51098427 G C snp 527.77 1/1 39 19 0 19 1.0 intergenic rs1528601 LOC101927334 AU 0.528954 0.7331 0.321104 0.3711 0.7281 Uncertain 16_51171175_C->T 16 51171175 51171175 C T snp 6000.77 1/1 99 213 0 213 1.0 exonic rs4614723 SALL1 AD nonsynonymous SNV NM_002968 exon3 c.G3823A p.V1275I 0.986821 1 0.988381 0.9965 1 0.41 T 0.000 P -0.990 T 0.0 T 0.0 T Pathogenic 16_51173559_G->A 16 51173559 51173559 G A snp 7501.77 1/1 99 247 0 247 1.0 exonic rs1965024 SALL1 AD synonymous SNV NM_002968 exon2 c.C2574T p.L858L 0.538738 0.7173 0.491921 0.6204 0.7091 Uncertain 16_51175127_C->T 16 51175127 51175127 C T snp 734.77 0/1 99 85 49 36 0.42 exonic rs776766459 SALL1 AD nonsynonymous SNV NM_002968 exon2 c.G1006A p.G336S 1.647e-05 0.0002 0.36 T 0.619 D -0.966 T 0.002 T 0.001 T Pathogenic 16_51177113_A->C 16 51177113 51177113 A C snp 575.77 1/1 45 16 0 16 1.0 intronic rs4399530 SALL1 AD NM_001127892 exon2 c.5034+1057A>C 0.988219 1 Uncertain 16_51177327_-->AA 16 51177327 51177327 - AA indel 2345.73 1/1 99 108 0 108 1.0 intronic rs34204387 SALL1 AD NM_001127892 exon2 c.5034+1271insAA 0.923922 1 0.6145 0.6226 Uncertain 16_52085593_A->G 16 52085593 52085593 A G snp 1533.77 0/1 99 115 53 62 0.54 intronic rs1582317 C16orf97 AU NM_001242473 exon5 c.32000-6686A>G 0.373602 0.746 Uncertain 16_52107849_C->A 16 52107849 52107849 C A snp 3335.77 1/1 99 114 0 114 1.0 upstream rs33338 C16orf97 AU 0.980431 1 Uncertain 16_52473263_A->G 16 52473263 52473263 A G snp 1563.77 0/1 99 131 63 68 0.52 exonic rs9925256 TOX3 AU synonymous SNV NM_001080430 exon7 c.T1605C p.P535P 0.489617 0.2679 0.557506 0.4973 0.3394 Uncertain 16_52473911_T->C 16 52473911 52473911 T C snp 150.77 0/1 99 12 7 5 0.42 intronic rs189491926 TOX3 AU NM_001080430 exon1 c.744+31T>C 0.00119808 0.005 0.0002 0.0027 Uncertain 16_52479771_A->T 16 52479771 52479771 A T snp 98.77 0/1 99 14 10 4 0.29 intronic rs2075236 TOX3 AU NM_001080430 exon3 c.6769-134A>T 0.35004 0.6657 Uncertain 16_52484079_T->C 16 52484079 52484079 T C snp 238.77 0/1 99 25 14 11 0.44 intronic rs67375262 TOX3 AU NM_001080430 exon4 c.11052-109T>C 0.358027 0.7262 Uncertain 16_52580500_G->A 16 52580500 52580500 G A snp 1631.77 1/1 78 67 1 66 0.99 intronic rs3095602 TOX3 AU NM_001080430 exon7 c.107412-48G>A 0.441494 0.621 0.238441 0.2936 0.6062 Uncertain 16_52785056_GGAGG->- 16 52785056 52785060 GGAGG - indel 1410.8 1/1 18 23 1 22 0.96 intergenic rs145164444 CASC16 AU 0.538938 0.6052 Uncertain 16_52837310_C->T 16 52837310 52837310 C T snp 89.77 0/1 99 25 20 5 0.2 intergenic rs4784258 CASC16 AU 0.521565 0.7292 Uncertain 16_52837322_A->C 16 52837322 52837322 A C snp 863.77 1/1 63 30 0 30 1.0 intergenic rs4784259 CASC16 AU 0.667532 0.7292 Uncertain 16_52837573_G->A 16 52837573 52837573 G A snp 85.77 0/1 99 10 5 5 0.5 intergenic rs117379808 CASC16 AU 0.0305511 Uncertain 16_52992947_T->C 16 52992947 52992947 T C snp 1844.77 1/1 99 70 0 70 1.0 intergenic rs9933492 CASC16 AU 0.971645 1 Uncertain 16_52993016_A->C 16 52993016 52993016 A C snp 1877.77 1/1 99 78 0 78 1.0 intergenic rs9931362 CASC16 AU 0.971246 1 Uncertain 16_53035592_A->G 16 53035592 53035592 A G snp 317.77 0/1 99 17 4 13 0.76 intergenic rs12149531 CASC16 AU 0.387181 0.5784 Uncertain 16_53076131_T->C 16 53076131 53076131 T C snp 1053.77 0/1 99 91 45 46 0.51 intergenic rs62049054 CASC16 AU 0.197284 0.2242 Uncertain 16_53404203_C->A 16 53404203 53404203 C A snp 1636.77 1/1 99 50 0 50 1.0 exonic rs10775327 LOC643802 AU nonsynonymous SNV NM_001207030 exon2 c.G275T p.G92V 0.732827 0.9196 0.6868 0.8801 Pathogenic 16_53495530_G->T 16 53495530 53495530 G T snp 93.77 0/1 99 16 12 4 0.25 intronic RBL2 AU NM_005611 exon10 c.27184-122G>T Uncertain 16_53635933_A->T 16 53635933 53635933 A T snp 384.77 0/1 99 40 22 18 0.45 UTR3 rs4784319 RPGRIP1L AR,AU 0.477037 0.6091 Uncertain 16_53639208_G->T 16 53639208 53639208 G T snp 219.77 0/1 99 21 11 10 0.48 intronic rs77008584 RPGRIP1L AR,AU NM_001127897 exon2 c.3405-184G>T 0.0990415 0.3125 Uncertain 16_53639438_C->T 16 53639438 53639438 C T snp 2028.77 0/1 99 167 77 90 0.54 exonic rs3213758 RPGRIP1L AR,AU nonsynonymous SNV NM_015272 exon26 c.G3790A p.D1264N 0.0990415 0.3125 0.041013 0.0728 0.3160 0.16 T 0.000 P -1.061 T 0.957 D 0.287 D CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000114220.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 16_53671754_C->T 16 53671754 53671754 C T snp 2162.77 0/1 99 217 116 101 0.47 exonic rs2111119 RPGRIP1L AR,AU nonsynonymous SNV NM_015272 exon21 c.G3073A p.G1025S 0.166134 0.3204 0.110188 0.1146 0.3210 1 T 0.999 P -1.073 T 0.0 T 0.0 T CLINSIG=probable-non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=no_assertion_criteria_provided|criteria_provided\x2c_single_submitter;CLNACC=RCV000114218.2|RCV000127800.1;CLNDSDB=MedGen|MedGen;CLNDSDBID=CN169374|CN221809 Pathogenic 16_53672355_C->T 16 53672355 53672355 C T snp 608.77 0/1 99 41 17 24 0.59 intronic rs7203525 RPGRIP1L AR,AU NM_015272 exon8 c.36336+32C>T 0.484625 0.6141 0.403603 0.3575 0.6031 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000114217.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 16_53675492_C->A 16 53675492 53675492 C A snp 136.03 1/1 12 4 0 4 1.0 intronic rs75586284 RPGRIP1L AR,AU NM_001127897 exon8 c.39400+105C>A 0.0984425 0.3095 Uncertain 16_53682785_G->A 16 53682785 53682785 G A snp 369.77 0/1 99 21 9 12 0.57 intronic rs12600091 RPGRIP1L AR,AU NM_001127897 exon10 c.46888-90G>A 0.0984425 0.3095 Uncertain 16_53692199_T->C 16 53692199 53692199 T C snp 807.77 0/1 99 55 21 34 0.62 intronic rs7192060 RPGRIP1L AR,AU NM_001127897 exon14 c.56338-126T>C 0.318091 0.4633 Uncertain 16_53692238_C->T 16 53692238 53692238 C T snp 1251.77 0/1 99 86 33 53 0.62 intronic rs12598634 RPGRIP1L AR,AU NM_001127897 exon14 c.56338-87C>T 0.0988419 0.3095 Uncertain 16_53698715_C->T 16 53698715 53698715 C T snp 179.77 0/1 99 14 8 6 0.43 intronic rs4133018 RPGRIP1L AR,AU NM_001127897 exon16 c.62794-66C>T 0.0984425 0.3095 Uncertain 16_53699003_G->A 16 53699003 53699003 G A snp 2199.77 1/1 99 73 1 72 0.99 intronic rs4133017 RPGRIP1L AR,AU NM_001127897 exon16 c.62934+82G>A 0.828275 0.8552 Uncertain 16_53721906_C->T 16 53721906 53721906 C T snp 137.77 0/1 99 20 14 6 0.3 intronic rs74393433 RPGRIP1L AR,AU NM_001127897 exon21 c.85890+29C>T 0.100439 0.3115 0.042238 0.0740 0.3168 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000114222.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 16_53729152_T->C 16 53729152 53729152 T C snp 1463.77 0/1 99 85 33 52 0.61 intronic RPGRIP1L AR,AU NM_001127897 exon23 c.94075-910T>C Uncertain 16_53860481_G->A 16 53860481 53860481 G A snp 2171.77 1/1 99 70 0 70 1.0 intronic rs3826169 FTO AR NM_001080432 exon3 c.122307+78G>A 0.770567 0.6756 Uncertain 16_53913930_G->A 16 53913930 53913930 G A snp 322.78 1/1 27 11 0 11 1.0 intronic rs11076004 FTO AR NM_001080432 exon6 c.175803+31G>A 0.388179 0.6885 0.332897 0.4333 0.7246 Uncertain 16_54018921_G->A 16 54018921 54018921 G A snp 3812.77 1/1 99 147 0 147 1.0 intronic rs16952730 FTO AR NM_001080432 exon8 c.229925+50900G>A 0.389377 0.7073 Uncertain 16_54318102_C->T 16 54318102 54318102 C T snp 1804.77 1/1 99 64 0 64 1.0 intronic rs8050831 IRX3 AU NM_024336 exon2 c.560-55C>T 0.961861 0.999 0.970434 Uncertain 16_54318528_A->G 16 54318528 54318528 A G snp 1093.77 1/1 78 42 0 42 1.0 exonic rs1450355 IRX3 AU nonsynonymous SNV NM_024336 exon2 c.T1265C p.L422P 0.96865 1 0.982436 0.9714 1 0.23 T 0.823 P -1.023 T 0.0 T 0.0 T Pathogenic 16_54319571_A->G 16 54319571 54319571 A G snp 1992.77 1/1 99 69 0 69 1.0 intronic rs1868692 IRX3 AU NM_024336 exon3 c.1928+46A>G 0.954673 1 0.962488 0.9765 1 Uncertain 16_54319994_G->C 16 54319994 54319994 G C snp 677.77 1/1 51 24 0 24 1.0 UTR5 rs1868691 IRX3 AU 0.952875 1 0.9717 1 Uncertain 16_54602769_-->GGAGAA 16 54602769 54602769 - GGAGAA indel 1255.73 0/1 99 35 18 17 0.49 intergenic rs112946517 IRX3 AU 0.383586 0.1806 Uncertain 16_54691273_C->A 16 54691273 54691273 C A snp 475.77 0/1 99 34 14 20 0.59 intergenic rs4784409 IRX3 AU 0.158946 0.1567 Uncertain 16_54967957_A->C 16 54967957 54967957 A C snp 56.74 1/1 6 2 0 2 1.0 UTR3 rs7190373 IRX5 AR 0.946286 0.997 Uncertain 16_54967959_A->C 16 54967959 54967959 A C snp 54.74 1/1 6 2 0 2 1.0 UTR3 rs1133610 IRX5 AR 0.819888 0.9772 Uncertain 16_55359126_A->T 16 55359126 55359126 A T snp 2410.77 1/1 99 88 0 88 1.0 intronic rs31078 IRX6 AU NM_024335 exon1 c.45+78A>T 0.815495 0.881 0.763600 Uncertain 16_55359141_T->C 16 55359141 55359141 T C snp 2102.77 1/1 99 70 0 70 1.0 intronic rs31079 IRX6 AU NM_024335 exon1 c.45+93T>C 0.815495 0.881 Uncertain 16_55360208_G->T 16 55360208 55360208 G T snp 618.77 1/1 48 20 0 20 1.0 intronic rs31081 IRX6 AU NM_024335 exon2 c.1244-39G>T 0.721046 0.88 0.662739 0.7765 0.8859 Uncertain 16_55361493_C->T 16 55361493 55361493 C T snp 1325.77 1/1 93 52 0 52 1.0 splicing rs31082 IRX6 AU NM_024335 exon4 c.2494-4C>T 0.309305 0.3671 0.304017 0.3442 0.4117 Pathogenic 16_55362502_G->A 16 55362502 55362502 G A snp 281.78 1/1 24 10 0 10 1.0 intronic rs31085 IRX6 AU NM_024335 exon5 c.3608-109G>A 0.346046 0.4514 Uncertain 16_55362542_C->G 16 55362542 55362542 C G snp 617.77 1/1 48 20 0 20 1.0 intronic rs31086 IRX6 AU NM_024335 exon5 c.3608-69C>G 0.307308 0.3681 Uncertain 16_55363238_G->A 16 55363238 55363238 G A snp 3335.77 1/1 99 112 0 112 1.0 intronic rs31087 IRX6 AU NM_024335 exon5 c.4220+15G>A 0.333267 0.4514 0.310334 0.3595 0.4953 Uncertain 16_55363336_A->C 16 55363336 55363336 A C snp 133.03 1/1 12 4 0 4 1.0 intronic rs31088 IRX6 AU NM_024335 exon5 c.4220+113A>C 0.398363 0.4256 Uncertain 16_55513623_C->T 16 55513623 55513623 C T snp 2290.77 0/1 99 218 120 98 0.45 intronic rs243862 MMP2 AR NM_004530 exon1 c.153+79C>T 0.134185 0.0992 Uncertain 16_55516708_T->A 16 55516708 55516708 T A snp 144.77 0/1 99 10 5 5 0.5 intronic rs857403 MMP2 AR NM_001127891 exon2 c.1033-112T>A 0.747804 0.6706 Uncertain 16_55519607_C->T 16 55519607 55519607 C T snp 1245.77 0/1 99 111 60 51 0.46 exonic rs1053605 MMP2 AR synonymous SNV NM_004530 exon5 c.C750T p.T250T 0.0892572 0.1548 0.062250 0.0743 0.1465 Uncertain 16_55523705_T->C 16 55523705 55523705 T C snp 1915.77 0/1 99 158 78 80 0.51 exonic rs243849 MMP2 AR synonymous SNV NM_004530 exon7 c.T1149C p.D383D 0.79992 0.8016 0.799323 0.8378 0.7892 Uncertain 16_55525913_G->C 16 55525913 55525913 G C snp 291.77 0/1 99 38 19 19 0.5 intronic rs243846 MMP2 AR NM_001127891 exon8 c.10081+45G>C 0.656949 0.5694 0.769652 0.7923 0.6205 Uncertain 16_55527026_A->T 16 55527026 55527026 A T snp 224.77 0/1 99 20 9 11 0.55 intronic rs11640428 MMP2 AR NM_001127891 exon9 c.11282-43A>T 0.326278 0.2937 0.359243 0.3945 0.3009 Uncertain 16_55527113_G->A 16 55527113 55527113 G A snp 892.77 0/1 99 72 33 39 0.54 exonic rs2287074 MMP2 AR synonymous SNV NM_004530 exon9 c.G1380A p.T460T 0.32488 0.2867 0.359187 0.3927 0.2855 Uncertain 16_55527298_G->A 16 55527298 55527298 G A snp 381.77 0/1 99 29 11 18 0.62 intronic rs243843 MMP2 AR NM_001127891 exon9 c.11418+93G>A 0.656749 0.5694 Uncertain 16_55530772_T->G 16 55530772 55530772 T G snp 421.77 0/1 99 24 11 13 0.54 intronic rs243838 MMP2 AR NM_001127891 exon10 c.15050-65T>G 0.802316 0.8006 Uncertain 16_55532458_T->C 16 55532458 55532458 T C snp 404.77 0/1 99 29 14 15 0.52 intronic rs2287076 MMP2 AR NM_001127891 exon11 c.16573+98T>C 0.318291 0.2927 Uncertain 16_55536622_C->T 16 55536622 55536622 C T snp 276.77 0/1 99 30 19 11 0.37 intronic rs243835 MMP2 AR NM_001127891 exon12 c.20903-68C>T 0.48762 0.6379 Uncertain 16_55536687_A->G 16 55536687 55536687 A G snp 487.77 0/1 99 53 28 25 0.47 splicing rs243834 MMP2 AR NM_001127891 exon12 c.20903-3A>G 0.48762 0.6379 0.443213 0.4841 0.6353 Pathogenic 16_55539191_C->G 16 55539191 55539191 C G snp 648.77 0/1 99 60 29 31 0.52 intronic rs243832 MMP2 AR NM_001127891 exon13 c.23463-59C>G 0.532149 0.6409 Uncertain 16_55562257_G->A 16 55562257 55562257 G A snp 893.77 1/1 66 22 0 22 1.0 intronic rs837549 LPCAT2 AU NM_017839 exon3 c.19195-31G>A 0.96885 1 0.966446 0.9906 0.9999 Uncertain 16_55562466_G->A 16 55562466 55562466 G A snp 2677.77 0/1 99 241 128 113 0.47 exonic rs837550 LPCAT2 AU nonsynonymous SNV NM_017839 exon3 c.G489A p.M163I 0.517772 0.4296 0.561404 0.6190 0.4442 1 T 0.000 P -1.001 T 0.0 T 0.001 T Pathogenic 16_55565706_C->A 16 55565706 55565706 C A snp 46.77 0/1 75 7 4 3 0.43 intronic rs9937957 LPCAT2 AU NM_017839 exon5 c.22732-119C>A 0.119808 0.126 Uncertain 16_55565747_T->G 16 55565747 55565747 T G snp 133.77 0/1 99 13 7 6 0.46 intronic rs9930245 LPCAT2 AU NM_017839 exon5 c.22732-78T>G 0.120008 0.126 Uncertain 16_55571563_G->A 16 55571563 55571563 G A snp 2351.77 0/1 99 250 140 110 0.44 intronic rs10521321 LPCAT2 AU NM_017839 exon8 c.28451+19G>A 0.152556 0.1558 0.103878 0.1002 0.1536 Uncertain 16_55575670_G->A 16 55575670 55575670 G A snp 84.77 0/1 99 11 5 6 0.55 intronic rs9930421 LPCAT2 AU NM_017839 exon9 c.36553-3976G>A 0.13099 0.1538 Uncertain 16_55579816_G->A 16 55579816 55579816 G A snp 232.77 0/1 99 26 15 11 0.42 intronic rs9932991 LPCAT2 AU NM_017839 exon9 c.36636+87G>A 0.13099 0.1538 Uncertain 16_55579899_G->A 16 55579899 55579899 G A snp 128.03 1/1 12 6 0 6 1.0 intronic rs2397722 LPCAT2 AU NM_017839 exon9 c.36636+170G>A 0.919129 0.998 Uncertain 16_55583149_T->A 16 55583149 55583149 T A snp 317.03 0/1 12 17 4 13 0.76 intronic rs2160277 LPCAT2 AU NM_017839 exon10 c.40095-39T>A 0.832268 0.8234 0.785769 0.8041 0.7462 Uncertain 16_55601388_A->G 16 55601388 55601388 A G snp 1759.77 0/1 99 172 103 69 0.4 exonic rs1502003 CAPNS2 AU synonymous SNV NM_032330 exon1 c.A720G p.E240E 0.422923 0.4087 0.444181 0.4474 0.4072 Uncertain 16_55608587_G->A 16 55608587 55608587 G A snp 2943.77 0/1 99 241 116 125 0.52 exonic rs13334083 LPCAT2 AU synonymous SNV NM_017839 exon12 c.G1260A p.L420L 0.0988419 0.12 0.075100 0.0633 0.1169 Uncertain 16_55612918_T->A 16 55612918 55612918 T A snp 309.78 1/1 24 9 0 9 1.0 intronic rs4784549 LPCAT2 AU NM_017839 exon13 c.69927-102T>A 0.689696 0.7421 Uncertain 16_55725975_A->G 16 55725975 55725975 A G snp 2999.77 0/1 99 245 117 128 0.52 intronic rs5564 SLC6A2 AU NM_001172504 exon5 c.35358+11A>G 0.0744808 0.1776 0.060249 0.0769 0.1618 Uncertain 16_55728081_T->G 16 55728081 55728081 T G snp 1134.77 1/1 81 41 0 41 1.0 intronic rs28613651 SLC6A2 AU NM_001172504 exon6 c.37419+56T>G 0.98742 1 Uncertain 16_55729124_T->C 16 55729124 55729124 T C snp 2035.77 1/1 99 73 0 73 1.0 intronic rs2279805 SLC6A2 AU NM_001172504 exon7 c.38583-65T>C 0.490815 0.7321 Uncertain 16_55732620_C->T 16 55732620 55732620 C T snp 56.74 1/1 6 2 0 2 1.0 intronic rs36009 SLC6A2 AU NM_001172504 exon10 c.41874+140C>T 0.0876597 0.1835 Uncertain 16_55844609_G->T 16 55844609 55844609 G T snp 759.77 0/1 99 132 94 38 0.29 intronic CES1 AU NM_001266 exon4 c.7616+33G>T 0.667332 0.3988 0.786934 0.7341 0.4016 Uncertain 16_55844617_G->A 16 55844617 55844617 G A snp 666.77 0/1 99 125 91 34 0.27 intronic CES1 AU NM_001266 exon4 c.7616+41G>A 0.364417 0.1865 0.501924 0.5122 0.2037 Uncertain 16_55844924_-->A 16 55844924 55844924 - A indel 1161.74 1/1 28 107 9 98 0.92 splicing rs370314655 CES1 AU NM_001025194 exon5 c.7962+2insA 0.108626 0.127 0.1244 0.2045 Pathogenic 16_55845084_-->G 16 55845084 55845084 - G indel 621.73 0/1 99 62 35 27 0.44 intronic CES1 AU NM_001025194 exon5 c.7962+162insG Uncertain 16_55847045_A->G 16 55847045 55847045 A G snp 464.77 0/1 99 37 20 17 0.46 intronic CES1 AU NM_001266 exon6 c.9995+90A>G 0.555711 0.381 Uncertain 16_55847051_C->T 16 55847051 55847051 C T snp 468.77 0/1 99 31 16 15 0.48 intronic CES1 AU NM_001266 exon6 c.9995+96C>T 0.609225 0.3948 Uncertain 16_55850708_T->G 16 55850708 55850708 T G snp 274.77 0/1 99 18 9 9 0.5 intronic CES1 AU NM_001266 exon7 c.13875-127T>G 0.556709 0.381 Uncertain 16_55853446_C->A 16 55853446 55853446 C A snp 438.77 0/1 99 68 49 19 0.28 splicing CES1 AU NM_001266 exon8 c.16486C>A 0.0333466 0.0585 0.007926 0.0287 0.0690 1 D Pathogenic 16_55854412_A->T 16 55854412 55854412 A T snp 342.77 0/1 99 191 134 57 0.3 intronic CES1 AU NM_001266 exon9 c.17431+21A>T 0.4358 0.2912 Uncertain 16_55854452_G->A 16 55854452 55854452 G A snp 374.77 0/1 99 106 81 25 0.24 intronic CES1 AU NM_001266 exon9 c.17431+61G>A 0.454073 0.3581 Uncertain 16_55854455_A->C 16 55854455 55854455 A C snp 397.77 0/1 99 101 77 24 0.24 intronic CES1 AU NM_001266 exon9 c.17431+64A>C 0.454073 0.3581 Uncertain 16_55854514_G->A 16 55854514 55854514 G A snp 228.77 0/1 99 32 23 9 0.28 intronic CES1 AU NM_001266 exon9 c.17431+123G>A 0.560903 0.38 Uncertain 16_55855151_G->- 16 55855151 55855151 G - indel 1768.73 0/1 99 120 72 48 0.4 intronic CES1 AU NM_001266 exon10 c.18319-128delG 0.281749 0.1845 Uncertain 16_55857396_A->C 16 55857396 55857396 A C snp 1719.77 0/1 99 84 27 57 0.68 intronic CES1 AU NM_001266 exon11 c.20501-65A>C Uncertain 16_55862605_G->A 16 55862605 55862605 G A snp 4053.77 1/1 99 149 1 148 0.99 intronic CES1 AU NM_001266 exon13 c.25718-73G>A 0.758786 0.5883 Uncertain 16_55866894_-->A 16 55866894 55866894 - A indel 887.73 1/1 63 22 0 22 1.0 intronic rs56278207 CES1 AU NM_001266 exon14 c.29955-21insA 0.396565 0.3056 0.489819 0.5305 0.2387 Uncertain 16_55866900_T->C 16 55866900 55866900 T C snp 624.77 1/1 48 19 0 19 1.0 intronic CES1 AU NM_001266 exon14 c.29955-15T>C 0.121805 0.1558 0.0013 0.0017 Uncertain 16_55866934_A->C 16 55866934 55866934 A C snp 283.78 1/1 24 9 0 9 1.0 exonic CES1 AU nonsynonymous SNV NM_001025194 exon1 c.T34G p.S12A 0.0640974 0.0804 0.004009 0.0021 0.0005 0.76 T 1 N -1.102 T 0.0 T 0.001 T Pathogenic 16_55866949_T->C 16 55866949 55866949 T C snp 50.74 1/1 6 2 0 2 1.0 exonic CES1 AU nonsynonymous SNV NM_001025194 exon1 c.A19G p.I7V 0.038738 0.0556 0.0014 0.0002 1 T 1 N -0.974 T 0.0 T 0.001 T Pathogenic 16_55866969_G->C 16 55866969 55866969 G C snp 141.03 1/1 12 9 0 9 1.0 UTR5 CES1 AU 0.0469249 0.0724 0.000946 0.0011 0.0011 Uncertain 16_55866987_T->C 16 55866987 55866987 T C snp 383.77 1/1 30 15 0 15 1.0 UTR5 CES1 AU 0.101637 0.1101 0.018190 0.0105 0.0066 Uncertain 16_55866988_C->G 16 55866988 55866988 C G snp 425.77 1/1 33 16 0 16 1.0 UTR5 CES1 AU 0.0838658 0.1101 0.0055 0.0066 Uncertain 16_55867006_T->C 16 55867006 55867006 T C snp 542.77 1/1 42 19 0 19 1.0 UTR5 CES1 AU 0.220048 0.2183 0.087693 0.0473 0.0392 Uncertain 16_55867013_T->C 16 55867013 55867013 T C snp 634.77 1/1 48 23 0 23 1.0 UTR5 CES1 AU 0.17492 0.2212 0.025360 0.0203 0.0426 Uncertain 16_55867042_A->C 16 55867042 55867042 A C snp 179.77 0/1 99 28 15 13 0.46 UTR5 CES1 AU 0.28774 0.4504 0.177617 Uncertain 16_55867128_T->C 16 55867128 55867128 T C snp 157.77 0/1 99 13 5 8 0.62 upstream CES1 AU Uncertain 16_55867147_T->C 16 55867147 55867147 T C snp 121.77 0/1 99 8 3 5 0.63 upstream CES1 AU 0.00159744 0.003 Uncertain 16_55867160_G->A 16 55867160 55867160 G A snp 46.77 0/1 33 3 1 2 0.67 upstream CES1 AU Uncertain 16_55880323_G->A 16 55880323 55880323 G A snp 384.77 1/1 30 13 0 13 1.0 UTR3 rs11864688 CES5A AU 0.419529 0.4117 0.387706 0.3769 0.3900 Uncertain 16_55880480_A->C 16 55880480 55880480 A C snp 1483.77 1/1 99 54 0 54 1.0 exonic rs11860456 CES5A AU nonsynonymous SNV NM_145024 exon12 c.T1461G p.D487E 0.324281 0.2817 0.321253 0.2633 0.2525 0.46 T 0.0 P -0.953 T 0.0 T 0.001 T Pathogenic 16_55880534_G->C 16 55880534 55880534 G C snp 2383.77 1/1 99 73 0 73 1.0 exonic rs11860488 CES5A AU synonymous SNV NM_145024 exon12 c.C1407G p.L469L 0.30611 0.2817 0.305325 0.2575 0.2530 Uncertain 16_55880639_C->T 16 55880639 55880639 C T snp 3957.77 1/1 99 154 0 154 1.0 intronic rs11865638 CES5A AU NM_001143685 exon2 c.317-40C>T 0.283746 0.2708 0.284164 0.2472 0.2475 Uncertain 16_55880825_T->G 16 55880825 55880825 T G snp 812.77 1/1 60 25 0 25 1.0 intronic rs11076120 CES5A AU NM_001143685 exon2 c.390+73T>G 0.406949 0.5139 Uncertain 16_55880854_T->G 16 55880854 55880854 T G snp 265.8 1/1 21 8 0 8 1.0 intronic rs11076121 CES5A AU NM_001143685 exon2 c.390+102T>G 0.407748 0.5119 Uncertain 16_55880874_G->A 16 55880874 55880874 G A snp 86.28 1/1 9 3 0 3 1.0 intronic rs11076122 CES5A AU NM_001143685 exon2 c.390+122G>A 0.301917 0.2768 Uncertain 16_55883412_G->T 16 55883412 55883412 G T snp 139.03 1/1 12 4 0 4 1.0 intronic rs2110815 CES5A AU NM_001143685 exon3 c.3173-123G>T 0.60603 0.5427 Uncertain 16_55883515_G->A 16 55883515 55883515 G A snp 1528.77 1/1 99 59 0 59 1.0 intronic rs7498560 CES5A AU NM_001143685 exon3 c.3173-20G>A 0.033147 0.0734 0.026019 0.0348 0.0684 Uncertain 16_55883618_T->C 16 55883618 55883618 T C snp 2111.77 1/1 99 77 0 77 1.0 exonic rs2160276 CES5A AU synonymous SNV NM_001143685 exon11 c.A1341G p.P447P 0.688698 0.7768 0.697282 0.7193 0.7788 Uncertain 16_55883761_A->C 16 55883761 55883761 A C snp 267.8 1/1 21 9 0 9 1.0 intronic rs7186875 CES5A AU NM_001143685 exon3 c.3323+76A>C 0.608626 0.5427 Uncertain 16_55890398_G->C 16 55890398 55890398 G C snp 3411.77 1/1 99 132 0 132 1.0 intronic rs9937572 CES5A AU NM_001143685 exon5 c.9995+41G>C 0.414137 0.3958 0.329871 0.3047 0.4024 Uncertain 16_55895249_A->G 16 55895249 55895249 A G snp 509.77 1/1 39 13 0 13 1.0 intronic rs3859104 CES5A AU NM_001143685 exon7 c.14961-74A>G 0.236621 0.2966 Uncertain 16_55905636_A->G 16 55905636 55905636 A G snp 3002.77 1/1 99 113 0 113 1.0 exonic rs3859108 CES5A AU synonymous SNV NM_001143685 exon3 c.T318C p.H106H 0.990815 1 0.990074 0.9972 1 Uncertain 16_55907811_C->T 16 55907811 55907811 C T snp 1374.77 0/1 99 113 54 59 0.52 exonic rs2397965 CES5A AU nonsynonymous SNV NM_001143685 exon2 c.G212A p.R71Q 0.279353 0.3016 0.241305 0.2039 0.2949 0 D 0.999 P -0.972 T 1.0 D 0.992 D Pathogenic 16_55909163_T->C 16 55909163 55909163 T C snp 1112.77 0/1 99 86 41 45 0.52 UTR5 rs7194945 CES5A AU 0.629193 0.7847 0.505925 0.5108 0.7714 Uncertain 16_55909270_T->A 16 55909270 55909270 T A snp 155.77 0/1 63 7 2 5 0.71 UTR5 rs7188305 CES5A AU 0.498802 0.5585 Uncertain 16_56226638_-->CA 16 56226638 56226638 - CA indel 325.74 1/1 27 18 0 18 1.0 ncRNA_exonic rs149880726 DKFZP434H168 AU Uncertain 16_56227909_G->A 16 56227909 56227909 G A snp 531.77 0/1 99 55 33 22 0.4 ncRNA_exonic rs76026714 DKFZP434H168 AU 0.0722843 0.0298 Uncertain 16_56227965_T->G 16 56227965 56227965 T G snp 1312.77 0/1 99 102 46 56 0.55 ncRNA_exonic rs59779556 DKFZP434H168 AU 0.448482 0.5744 0.4172 0.5667 Uncertain 16_56228066_A->G 16 56228066 56228066 A G snp 3733.77 1/1 99 137 0 137 1.0 ncRNA_exonic rs1190761 DKFZP434H168 AU 0.967851 0.9494 0.9382 0.9406 Uncertain 16_56362725_T->C 16 56362725 56362725 T C snp 4435.77 1/1 99 158 0 158 1.0 intronic rs2241952 GNAO1 AD NM_020988 exon4 c.136556+22T>C 0.592652 0.7827 0.570406 0.6646 0.7741 Uncertain 16_56368689_C->T 16 56368689 56368689 C T snp 4802.77 1/1 99 174 0 174 1.0 exonic rs1065375 GNAO1 AD synonymous SNV NM_020988 exon5 c.C513T p.T171T 0.497404 0.7589 0.397661 0.4384 0.7567 Uncertain 16_56368886_C->T 16 56368886 56368886 C T snp 96.28 1/1 9 3 0 3 1.0 intronic rs2251025 GNAO1 AD NM_020988 exon5 c.142622+117C>T 0.776158 0.8571 Uncertain 16_56377748_A->G 16 56377748 56377748 A G snp 2398.77 0/1 99 205 98 107 0.52 intronic rs1799917 GNAO1 AD NM_138736 exon8 c.151527+74A>G 0.409944 0.2242 0.423438 0.3568 0.2029 Uncertain 16_56396486_C->T 16 56396486 56396486 C T snp 3042.77 0/1 99 250 131 119 0.48 UTR3 rs4924 AMFR AU 0.598842 0.4435 0.589118 0.5446 0.4285 0 D 0.0 P -1.026 T Uncertain 16_56397153_G->A 16 56397153 56397153 G A snp 48.74 1/1 6 2 0 2 1.0 intronic rs2617846 AMFR AU NM_001144 exon1 c.148+185G>A 0.607628 0.4444 Uncertain 16_56401294_T->C 16 56401294 56401294 T C snp 325.77 0/1 91 17 3 14 0.82 intronic rs2241957 AMFR AU NM_001144 exon3 c.4535-61T>C 0.712061 0.6091 Uncertain 16_56436824_A->G 16 56436824 56436824 A G snp 1379.77 0/1 99 121 65 56 0.46 intronic rs2440472 AMFR AU NM_001144 exon8 c.40076-72A>G 0.615615 0.4454 Uncertain 16_56441862_A->G 16 56441862 56441862 A G snp 1430.77 0/1 99 146 82 64 0.44 intronic rs2920704 AMFR AU NM_001144 exon11 c.45055-13A>G 0.699681 0.6091 0.661511 0.6128 0.5956 Uncertain 16_56442066_C->T 16 56442066 56442066 C T snp 486.77 0/1 99 28 11 17 0.61 intronic rs4238787 AMFR AU NM_001144 exon11 c.45208+38C>T 0.622204 0.4454 0.623269 0.5730 0.4618 Uncertain 16_56468561_C->T 16 56468561 56468561 C T snp 449.77 0/1 99 36 18 18 0.5 intronic rs8056687 NUDT21 AU NM_007006 exon3 c.2042-104C>T 0.717851 0.6081 Uncertain 16_56501806_C->T 16 56501806 56501806 C T snp 666.77 0/1 99 73 40 33 0.45 intronic rs2288055 OGFOD1 AU NM_018233 exon8 c.16292-10C>T 0.17472 0.1716 0.160434 0.1438 0.1719 Uncertain 16_56545175_T->C 16 56545175 56545175 T C snp 2790.77 0/1 99 222 98 124 0.56 exonic rs11373 BBS2 AR nonsynonymous SNV NM_031885 exon3 c.A367G p.I123V 0.263578 0.4127 0.195445 0.2092 0.4101 0.56 T 0.274 P -1.014 T 0.0 T 0.003 T ID=CM144738;DIS=Bardet-Biedl syndrome;TAG=DFP;PUB=24746959 DFP Pathogenic 16_56548501_C->T 16 56548501 56548501 C T snp 3687.77 1/1 99 130 0 130 1.0 exonic rs4784677 BBS2 AR nonsynonymous SNV NM_031885 exon2 c.G209A p.S70N 0.996406 1 0.994460 0.9938 0.9999 1 T 0.000 P -0.909 T CLINSIG=pathogenic;CLNDBN=BARDET-BIEDL_SYNDROME_2/6\x2c_DIGENIC;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000004838.2;CLNDSDB=.;CLNDSDBID=. ID=CM012900;DIS=Bardet-Biedl syndrome;TAG=DM;PUB=11567139 DM Pathogenic 16_56598904_G->A 16 56598904 56598904 G A snp 227.77 0/1 99 13 5 8 0.62 upstream rs2071005 MT4 AU 0.351837 0.2976 Uncertain 16_56599221_C->G 16 56599221 56599221 C G snp 1851.77 1/1 99 60 0 60 1.0 intronic rs182221 MT4 AU NM_032935 exon1 c.31+150C>G 0.585064 0.5724 Uncertain 16_56601720_A->G 16 56601720 56601720 A G snp 2086.77 1/1 99 76 0 76 1.0 exonic rs666636 MT4 AU nonsynonymous SNV NM_032935 exon2 c.A89G p.Y30C 0.858427 0.7183 0.921433 0.9351 0.7132 1 T 0.000 P -0.938 T 0.0 T 0.0 T Pathogenic 16_56601722_T->C 16 56601722 56601722 T C snp 2062.77 1/1 99 75 0 75 1.0 exonic rs666647 MT4 AU nonsynonymous SNV NM_032935 exon2 c.T91C p.W31R 0.866014 0.7192 0.930482 0.9375 0.7129 0.49 T 0.000 P -0.951 T 0.0 T 0.0 T Pathogenic 16_56602616_T->C 16 56602616 56602616 T C snp 31.77 0/1 60 7 5 2 0.29 intronic rs396230 MT4 AU NM_032935 exon3 c.3712-136T>C 0.244808 0.2579 Uncertain 16_56602671_C->T 16 56602671 56602671 C T snp 524.77 0/1 99 27 9 18 0.67 intronic rs762604 MT4 AU NM_032935 exon3 c.3712-81C>T 0.121805 0.0496 Uncertain 16_56623191_C->T 16 56623191 56623191 C T snp 149.77 0/1 99 11 6 5 0.45 upstream rs7195310 MT3 AU 0.607827 0.5982 Uncertain 16_56624079_A->G 16 56624079 56624079 A G snp 831.77 0/1 99 71 39 32 0.45 intronic rs11644094 MT3 AU NM_005954 exon2 c.345+232A>G 0.213458 0.1577 0.2664 0.2031 Uncertain 16_56642491_A->G 16 56642491 56642491 A G snp 557.77 0/1 99 37 18 19 0.51 UTR5 rs28366003 MT2A AU 0.0571086 0.0873 0.038327 ID=CR066330;DIS=Cellular response to cadmium, association with;TAG=DFP;PUB=16927099 DFP Uncertain 16_56666886_C->T 16 56666886 56666886 C T snp 117.77 0/1 99 9 4 5 0.56 intronic rs1827208 MT1M AU NM_176870 exon1 c.28+215C>T 0.476637 0.4524 Uncertain 16_56667282_C->A 16 56667282 56667282 C A snp 1571.77 1/1 99 50 0 50 1.0 exonic rs1827210 MT1M AU nonsynonymous SNV NM_176870 exon2 c.C59A p.T20K 0.710663 0.6657 0.766620 0.8069 0.6699 1 T 0.0 P -0.998 T 0.0 T 0.002 T Pathogenic 16_56667614_C->T 16 56667614 56667614 C T snp 260.77 0/1 99 35 24 11 0.31 intronic rs2270836 MT1M AU NM_176870 exon3 c.1019-48C>T 0.320288 0.245 0.339412 0.3933 0.2575 Uncertain 16_56667854_A->G 16 56667854 56667854 A G snp 2935.77 1/1 99 103 0 103 1.0 UTR3 rs2270837 MT1M AU 0.710064 0.6657 Uncertain 16_56673143_A->G 16 56673143 56673143 A G snp 426.77 1/1 33 13 0 13 1.0 intronic rs11076160 MT1A AU NM_005946 exon2 c.525-32A>G 0.638179 0.6518 0.670822 0.7051 0.6624 Uncertain 16_56673148_A->G 16 56673148 56673148 A G snp 435.77 1/1 33 14 0 14 1.0 intronic rs11076161 MT1A AU NM_005946 exon2 c.525-27A>G 0.63758 0.6518 0.670514 0.7049 0.6625 Uncertain 16_56673227_C->A 16 56673227 56673227 C A snp 1191.77 0/1 99 94 46 48 0.51 exonic rs11640851 MT1A AU nonsynonymous SNV NM_005946 exon2 c.C80A p.T27N 0.470647 0.4752 0.526162 0.5961 0.4778 0.01 T 0.998 P -1.017 T 0.928 T 0.642 D ID=CM087031;DIS=Diabetes, association with;TAG=DFP;PUB=18249147 DFP Pathogenic 16_56673249_T->C 16 56673249 56673249 T C snp 1481.77 0/1 99 129 64 65 0.5 intronic rs11647171 MT1A AU NM_005946 exon2 c.591+8T>C 0.515375 0.4752 0.570956 0.6081 0.4777 Uncertain 16_56673436_-->AG 16 56673436 56673436 - AG indel 2205.73 1/1 99 55 0 55 1.0 intronic rs58069153 MT1A AU NM_005946 exon2 c.591+195insAG 0.987021 1 Uncertain 16_56683626_G->A 16 56683626 56683626 G A snp 285.77 0/1 99 32 20 12 0.38 intergenic rs7189840 MT1DP AU 0.496206 0.5556 Uncertain 16_56686002_G->C 16 56686002 56686002 G C snp 792.77 0/1 99 88 51 37 0.42 intronic rs2070838 MT1B AU NM_005947 exon1 c.28+109G>C 0.735423 0.7004 Uncertain 16_56686005_T->A 16 56686005 56686005 T A snp 755.77 0/1 99 87 51 36 0.41 intronic rs4619400 MT1B AU NM_005947 exon1 c.28+112T>A 0.735423 0.7004 Uncertain 16_56686030_C->G 16 56686030 56686030 C G snp 625.77 0/1 99 70 41 29 0.41 intronic rs964372 MT1B AU NM_005947 exon1 c.28+137C>G 0.735423 0.7004 Uncertain 16_56686242_C->T 16 56686242 56686242 C T snp 213.77 0/1 91 10 3 7 0.7 intronic rs2070839 MT1B AU NM_005947 exon2 c.617-240C>T 0.339657 0.3819 Uncertain 16_56686470_C->T 16 56686470 56686470 C T snp 7275.77 1/1 99 244 0 244 1.0 intronic rs12051311 MT1B AU NM_005947 exon2 c.617-12C>T 0.44369 0.5605 0.393506 0.4523 0.5762 Uncertain 16_56687032_T->- 16 56687032 56687032 T - indel 2019.73 1/1 99 73 0 73 1.0 UTR3 rs35231457 MT1B AU 0.331669 0.4177 0.237939 0.3386 0.4748 Uncertain 16_56700578_-->TT 16 56700578 56700578 - TT indel 329.77 1/1 21 7 0 7 1.0 downstream rs34777440 MT1G AU 0.234225 0.4038 Uncertain 16_56700722_G->T 16 56700722 56700722 G T snp 1096.77 0/1 99 118 65 53 0.45 UTR3 rs12315 MT1G AU 0.129593 0.2371 Uncertain 16_56701294_T->A 16 56701294 56701294 T A snp 3528.77 1/1 99 126 0 126 1.0 splicing rs2298847 MT1G AU NM_001301267 exon2 c.502+2T>A 0.240615 0.4077 0.128501 0.1819 0.4158 0.0 P Pathogenic 16_56701315_A->G 16 56701315 56701315 A G snp 1660.77 0/1 99 139 68 71 0.51 intronic rs2298846 MT1G AU NM_001301267 exon2 c.502+23A>G 0.0730831 0.0476 0.039243 0.0553 0.0568 Uncertain 16_56701977_T->A 16 56701977 56701977 T A snp 1842.77 0/1 99 166 87 79 0.48 UTR5 rs78780944 MT1G AU 0.0549121 0.0476 0.026062 Uncertain 16_56702000_T->C 16 56702000 56702000 T C snp 1603.77 0/1 99 146 79 67 0.46 upstream rs904770 MT1G AU 0.799521 0.7629 Uncertain 16_56704683_A->G 16 56704683 56704683 A G snp 1292.77 0/1 99 86 30 56 0.65 intronic rs72784739 MT1H AU NM_005951 exon3 c.1013-126A>G 0.119609 0.2639 0.1314 0.3532 Uncertain 16_56704955_-->T 16 56704955 56704955 - T indel 1557.73 0/1 99 186 85 101 0.54 UTR3 rs71381131 MT1H AU 0.0816693 0.0456 Uncertain 16_56704994_-->T 16 56704994 56704994 - T indel 1571.73 0/1 99 136 64 72 0.53 UTR3 rs144687737 MT1H AU 0.119609 0.2639 Uncertain 16_56709728_G->C 16 56709728 56709728 G C snp 1507.77 1/1 99 60 3 57 0.95 upstream rs8046181 MT1IP AU 0.913339 0.9782 0.9636 1 Uncertain 16_56709729_A->G 16 56709729 56709729 A G snp 1563.77 1/1 99 59 0 59 1.0 upstream rs8048049 MT1IP AU 0.983427 1 0.9937 1 Uncertain 16_56832302_C->T 16 56832302 56832302 C T snp 491.77 0/1 99 48 30 18 0.38 intronic rs9927884 NUP93 AR NM_014669 exon4 c.50228-85C>T 0.139776 0.1409 Uncertain 16_56852822_G->T 16 56852822 56852822 G T snp 207.77 0/1 99 19 12 7 0.37 intronic rs1561139 NUP93 AR NM_001242796 exon4 c.13226+172G>T 0.464457 0.6022 Uncertain 16_56855496_C->G 16 56855496 56855496 C G snp 1496.77 1/1 99 60 0 60 1.0 exonic rs2118017 NUP93 AR synonymous SNV NM_001242795 exon5 c.C276G p.L92L 0.875799 0.9236 0.832872 0.8299 0.9177 Uncertain 16_56863027_G->A 16 56863027 56863027 G A snp 1768.77 0/1 99 145 71 74 0.51 splicing rs3816116 NUP93 AR NM_001242796 exon7 c.23597+6G>A 0.0341454 0.0903 0.007233 0.0270 0.0951 Pathogenic 16_56864398_C->T 16 56864398 56864398 C T snp 1044.77 0/1 99 128 78 50 0.39 intronic rs1561140 NUP93 AR NM_001242796 exon8 c.25015-41C>T 0.684105 0.8304 0.590182 0.5826 0.8402 Uncertain 16_56864618_C->T 16 56864618 56864618 C T snp 660.77 0/1 99 34 12 22 0.65 intronic rs4461062 NUP93 AR NM_001242796 exon8 c.25173+21C>T 0.547524 0.6736 0.475839 0.4807 0.6997 Uncertain 16_56868700_A->G 16 56868700 56868700 A G snp 852.77 0/1 99 56 23 33 0.59 intronic rs1347591 NUP93 AR NM_001242796 exon14 c.29266+10A>G 0.541733 0.6706 0.472218 0.4775 0.6991 Uncertain 16_56871470_TTTATTGATTAC->- 16 56871470 56871481 TTTATTGATTAC - indel 6694.73 0/1 99 104 51 53 0.51 intronic rs145442551 NUP93 AR NM_001242796 exon16 c.32095-49_32095-38delTTTATTGATTAC 0.149361 0.1429 0.126878 0.1239 0.1413 Uncertain 16_56872722_C->T 16 56872722 56872722 C T snp 549.77 0/1 99 41 20 21 0.51 intronic rs3764265 NUP93 AR NM_001242796 exon17 c.33439-141C>T 0.148163 0.1429 Uncertain 16_56899540_G->A 16 56899540 56899540 G A snp 304.77 0/1 91 13 3 10 0.77 intronic rs2304478 SLC12A3 AR NM_000339 exon1 c.282+111G>A 0.0341454 0.0903 Uncertain 16_56904587_C->G 16 56904587 56904587 C G snp 4240.77 1/1 99 153 0 153 1.0 exonic rs1529927 SLC12A3 AR nonsynonymous SNV NM_000339 exon6 c.C791G p.A264G 0.990615 1 0.973223 0.9756 0.9997 1 T 0.023 P -0.925 T 0.0 T 0.0 T ID=CM022671;DIS=Gitelman syndrome;TAG=DM?;PUB=11940055 DM? Pathogenic 16_56912903_C->T 16 56912903 56912903 C T snp 99.28 1/1 9 3 0 3 1.0 intronic rs2289119 SLC12A3 AR NM_000339 exon10 c.13837-81C>T 0.189896 0.249 Uncertain 16_56913419_C->T 16 56913419 56913419 C T snp 2760.77 1/1 99 98 0 98 1.0 intronic rs3816119 SLC12A3 AR NM_000339 exon11 c.14306-34C>T 0.192692 0.2589 0.162588 0.1981 0.2818 Uncertain 16_56917953_T->C 16 56917953 56917953 T C snp 3453.77 1/1 99 120 0 120 1.0 intronic rs2304483 SLC12A3 AR NM_000339 exon14 c.18813-7T>C 0.570687 0.62 0.474915 0.4590 0.5907 Uncertain 16_56920969_C->T 16 56920969 56920969 C T snp 5374.77 1/1 99 207 0 207 1.0 exonic rs5803 SLC12A3 AR synonymous SNV NM_000339 exon17 c.C2142T p.A714A 0.152955 0.2212 0.105032 0.1237 0.2301 Uncertain 16_56924160_C->T 16 56924160 56924160 C T snp 1794.77 1/1 99 69 0 69 1.0 intronic rs3764264 SLC12A3 AR NM_000339 exon19 c.25038-25C>T 0.137979 0.2222 0.087181 0.1190 0.2299 Uncertain 16_56925894_C->T 16 56925894 56925894 C T snp 2930.77 1/1 99 100 0 100 1.0 intronic rs2304482 SLC12A3 AR NM_000339 exon20 c.26847-100C>T 0.140176 0.2222 Uncertain 16_56926176_G->A 16 56926176 56926176 G A snp 491.77 1/1 39 13 0 13 1.0 intronic rs12443855 SLC12A3 AR NM_000339 exon20 c.26925+104G>A 0.564297 0.4306 Uncertain 16_56926793_C->T 16 56926793 56926793 C T snp 1139.77 1/1 84 34 0 34 1.0 intronic rs2278490 SLC12A3 AR NM_000339 exon21 c.27717-71C>T 0.303115 0.4931 Uncertain 16_56926828_T->C 16 56926828 56926828 T C snp 1808.77 1/1 99 60 0 60 1.0 intronic rs2278489 SLC12A3 AR NM_000339 exon21 c.27717-36T>C 0.604633 0.6587 0.698399 0.5720 0.6321 Uncertain 16_56928277_C->T 16 56928277 56928277 C T snp 243.77 0/1 99 21 11 10 0.48 intronic rs13306678 SLC12A3 AR NM_000339 exon22 c.29295-165C>T 0.13139 0.2252 Uncertain 16_56928519_C->T 16 56928519 56928519 C T snp 2696.77 0/1 99 240 118 122 0.51 exonic rs5804 SLC12A3 AR synonymous SNV NM_000339 exon22 c.C2625T p.G875G 0.131989 0.2252 0.082487 0.1202 0.2295 Uncertain 16_56933315_T->C 16 56933315 56933315 T C snp 1115.77 1/1 81 33 0 33 1.0 intronic rs9922270 SLC12A3 AR NM_000339 exon23 c.34294-126T>C 0.98143 1 Uncertain 16_56965966_C->T 16 56965966 56965966 C T snp 1693.77 0/1 99 148 72 76 0.51 upstream HERPUD1 AU Uncertain 16_56966011_G->A 16 56966011 56966011 G A snp 2358.77 0/1 99 201 100 101 0.5 UTR5 rs37025 HERPUD1 AU 0.758786 0.6429 0.7028 0.6990 Uncertain 16_56995038_T->C 16 56995038 56995038 T C snp 405.77 0/1 99 28 13 15 0.54 upstream rs4783962 CETP AD 0.798323 0.6448 Uncertain 16_57003250_C->A 16 57003250 57003250 C A snp 38.77 0/1 67 8 5 3 0.38 intronic rs13306230 CETP AD NM_000078 exon3 c.7406-47C>A 0.00758786 0.0208 0.001000 0.0032 0.0142 Uncertain 16_57003723_G->T 16 57003723 57003723 G T snp 726.77 0/1 99 43 18 25 0.58 intronic rs891141 CETP AD NM_000078 exon5 c.7934-102G>T 0.950879 0.9792 Uncertain 16_57003977_T->C 16 57003977 57003977 T C snp 1601.77 0/1 99 120 55 65 0.54 intronic rs891142 CETP AD NM_000078 exon5 c.8022+64T>C 0.963858 0.9792 Uncertain 16_57003980_T->C 16 57003980 57003980 T C snp 3308.77 1/1 99 116 0 116 1.0 intronic rs891143 CETP AD NM_000078 exon5 c.8022+67T>C 0.971446 1 Uncertain 16_57004889_G->A 16 57004889 57004889 G A snp 2311.77 0/1 99 238 130 108 0.45 intronic rs7205804 CETP AD NM_000078 exon6 c.9053-55G>A 0.321286 0.3125 0.342532 Uncertain 16_57004951_G->A 16 57004951 57004951 G A snp 2070.77 0/1 99 215 122 93 0.43 exonic rs34611098 CETP AD synonymous SNV NM_000078 exon6 c.G534A p.G178G 0.0071885 0.0208 0.000923 0.0032 0.0142 Uncertain 16_57007451_G->A 16 57007451 57007451 G A snp 1771.77 1/1 99 61 0 61 1.0 intronic rs289714 CETP AD NM_000078 exon9 c.11531+29G>A 0.652556 0.7321 0.695445 0.7611 0.7221 Uncertain 16_57015463_G->A 16 57015463 57015463 G A snp 2832.77 1/1 99 92 0 92 1.0 intronic rs7195984 CETP AD NM_000078 exon13 c.19667-95G>A 0.95008 1 Uncertain 16_57016092_G->A 16 57016092 57016092 G A snp 1323.77 0/1 99 100 44 56 0.56 exonic rs5882 CETP AD nonsynonymous SNV NM_000078 exon14 c.G1264A p.V422I 0.533946 0.5635 0.591182 0.6165 0.5481 0.37 T 0.0 P -0.987 T 0.001 T 0.003 T CLINSIG=other;CLNDBN=High_density_lipoprotein_cholesterol_level_quantitative_trait_locus_10;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000019077.1;CLNDSDB=MedGen;CLNDSDBID=C1413353 ID=CM994290;DIS=Higher HDL cholesterol level, association with;TAG=DFP;PUB=10092998 DFP Pathogenic 16_57017474_G->A 16 57017474 57017474 G A snp 1377.77 0/1 99 92 45 47 0.51 intronic rs289741 CETP AD NM_000078 exon16 c.21612-29G>A 0.583866 0.6905 0.602185 0.6554 0.6874 Uncertain 16_57017762_C->G 16 57017762 57017762 C G snp 164.77 0/1 99 17 11 6 0.35 downstream rs289742 CETP AD 0.766174 0.7927 Uncertain 16_57057432_T->C 16 57057432 57057432 T C snp 54.74 1/1 6 2 0 2 1.0 intronic rs1684574 NLRC5 AU NM_032206 exon4 c.3072-264T>C 0.996006 1 Uncertain 16_57057619_G->T 16 57057619 57057619 G T snp 1056.77 0/1 99 83 37 46 0.55 intronic rs1684575 NLRC5 AU NM_032206 exon4 c.3072-77G>T 0.463059 0.3274 Uncertain 16_57057654_A->G 16 57057654 57057654 A G snp 2786.77 1/1 99 102 0 102 1.0 intronic rs1672865 NLRC5 AU NM_032206 exon4 c.3072-42A>G 0.687101 0.8948 0.596287 0.6761 0.9163 Uncertain 16_57059427_C->T 16 57059427 57059427 C T snp 1304.77 0/1 99 140 81 59 0.42 exonic rs74439742 NLRC5 AU nonsynonymous SNV NM_032206 exon5 c.C572T p.P191L 0.123003 0.1845 0.134888 0.1444 0.1428 0.3 T 0.000 P -1.106 T 0.0 T 0.001 T Pathogenic 16_57060340_T->C 16 57060340 57060340 T C snp 3192.79 0/1 99 250 129 121 0.48 exonic rs34531240 NLRC5 AU synonymous SNV NM_032206 exon5 c.T1485C p.T495T 0.28115 0.5933 0.129271 0.1875 0.6094 1.000 P -0.916 T Likely benign 16_57060353_T->C 16 57060353 57060353 T C snp 3063.77 0/1 99 250 134 116 0.46 exonic rs28438857 NLRC5 AU nonsynonymous SNV NM_032206 exon5 c.T1498C p.C500R 0.28115 0.5933 0.129271 0.1874 0.6098 0.56 T 0.0 P -0.979 T 0.0 T 0.0 T Pathogenic 16_57060967_G->A 16 57060967 57060967 G A snp 641.77 0/1 99 46 19 27 0.59 intronic rs74592648 NLRC5 AU NM_032206 exon5 c.6306+37G>A 0.204673 0.5754 0.018185 0.1030 0.5991 Uncertain 16_57062177_T->A 16 57062177 57062177 T A snp 1171.77 0/1 99 122 67 55 0.45 intronic rs1684576 NLRC5 AU NM_032206 exon7 c.7589-36T>A 0.460663 0.3462 0.564174 0.5304 0.3312 Uncertain 16_57065121_C->A 16 57065121 57065121 C A snp 221.77 0/1 99 20 10 10 0.5 intronic rs16965220 NLRC5 AU NM_032206 exon10 c.10691-194C>A 0.267572 0.2133 Uncertain 16_57065199_G->A 16 57065199 57065199 G A snp 672.77 0/1 99 63 33 30 0.48 intronic rs72780004 NLRC5 AU NM_032206 exon10 c.10691-116G>A 0.141973 0.2123 Uncertain 16_57067447_G->A 16 57067447 57067447 G A snp 143.77 0/1 99 16 11 5 0.31 intronic rs78435448 NLRC5 AU NM_032206 exon11 c.12891-68G>A 0.190096 0.5704 Uncertain 16_57067595_A->T 16 57067595 57067595 A T snp 245.77 0/1 99 48 34 14 0.29 intronic rs58124158 NLRC5 AU NM_032206 exon11 c.12957+14A>T 0.268171 0.2133 0.298092 0.2920 0.1838 Uncertain 16_57068106_A->G 16 57068106 57068106 A G snp 1730.77 0/1 99 147 73 74 0.5 exonic rs3995818 NLRC5 AU nonsynonymous SNV NM_032206 exon12 c.A2570G p.H857R 0.191294 0.5764 0.006387 0.0946 0.5865 0.76 T 0.0 P -0.949 T 0.074 T 0.023 T Pathogenic 16_57068107_C->T 16 57068107 57068107 C T snp 1715.77 0/1 99 148 73 75 0.51 exonic rs3995817 NLRC5 AU synonymous SNV NM_032206 exon12 c.C2571T p.H857H 0.294129 0.5942 0.139581 0.1891 0.5953 0.0 P Uncertain 16_57071113_T->C 16 57071113 57071113 T C snp 871.77 0/1 99 96 59 37 0.39 exonic rs1684579 NLRC5 AU synonymous SNV NM_032206 exon14 c.T2718C p.S906S 0.576278 0.3958 0.686981 0.6585 0.3851 1.000 P Uncertain 16_57071114_A->G 16 57071114 57071114 A G snp 2782.77 1/1 99 99 0 99 1.0 exonic rs1672867 NLRC5 AU nonsynonymous SNV NM_032206 exon14 c.A2719G p.N907D 0.994409 0.999 0.988612 0.9891 0.9993 0.75 T 0.0 P -1.000 T 0.0 T 0.001 T Pathogenic 16_57071227_C->- 16 57071227 57071227 C - indel 2036.73 1/1 99 138 6 132 0.96 intronic rs552174230 NLRC5 AU NM_032206 exon14 c.16572+31delC 0.179912 0.5446 0.0965 0.5541 Uncertain 16_57071232_C->G 16 57071232 57071232 C G snp 1130.77 0/1 99 128 74 54 0.42 intronic rs1684580 NLRC5 AU NM_032206 exon14 c.16572+36C>G 0.489417 0.3929 0.639428 0.6139 0.3837 Uncertain 16_57071289_C->T 16 57071289 57071289 C T snp 1126.77 0/1 99 77 33 44 0.57 intronic rs77467915 NLRC5 AU NM_032206 exon14 c.16572+93C>T 0.0217652 0.1052 Uncertain 16_57071335_G->A 16 57071335 57071335 G A snp 321.77 0/1 99 31 17 14 0.45 intronic rs1651670 NLRC5 AU NM_032206 exon14 c.16572+139G>A 0.604832 0.3948 Uncertain 16_57071375_T->C 16 57071375 57071375 T C snp 119.77 0/1 99 8 3 5 0.63 intronic rs1672866 NLRC5 AU NM_032206 exon14 c.16572+179T>C 0.599441 0.3978 Uncertain 16_57073576_C->- 16 57073576 57073576 C - indel 824.73 0/1 99 52 28 24 0.46 intronic NLRC5 AU NM_032206 exon15 c.19068-116delC Uncertain 16_57073683_G->C 16 57073683 57073683 G C snp 4759.77 1/1 99 163 0 163 1.0 intronic rs864750 NLRC5 AU NM_032206 exon15 c.19068-9G>C 0.868411 0.9385 0.849877 0.8324 0.9397 Uncertain 16_57074451_T->C 16 57074451 57074451 T C snp 642.77 0/1 99 69 44 25 0.36 intronic rs289726 NLRC5 AU NM_032206 exon16 c.19937-110T>C 0.465455 0.3978 Uncertain 16_57075781_C->T 16 57075781 57075781 C T snp 564.77 1/1 42 19 0 19 1.0 intronic rs289727 NLRC5 AU NM_032206 exon18 c.21269-112C>T 0.658746 0.9246 Uncertain 16_57075962_C->A 16 57075962 57075962 C A snp 699.77 0/1 99 69 34 35 0.51 exonic rs117840561 NLRC5 AU nonsynonymous SNV NM_032206 exon18 c.C3098A p.A1033D 0.00139776 0.005 0.0008 0.0087 0.45 T 1.000 N -1.036 T 0.784 T 0.297 P Pathogenic 16_57076115_T->G 16 57076115 57076115 T G snp 788.77 1/1 57 28 0 28 1.0 intronic rs158482 NLRC5 AU NM_032206 exon18 c.21353+138T>G 0.994409 0.999 Uncertain 16_57089130_C->A 16 57089130 57089130 C A snp 2623.77 0/1 99 222 117 105 0.47 intronic rs1167512 NLRC5 AU NM_032206 exon25 c.34382+124C>A 0.288339 0.4048 Uncertain 16_57091950_C->A 16 57091950 57091950 C A snp 292.77 0/1 99 27 15 12 0.44 intronic rs7201038 NLRC5 AU NM_032206 exon27 c.37352-26C>A 0.108227 0.1349 0.093259 0.1112 0.1716 Uncertain 16_57091977_T->C 16 57091977 57091977 T C snp 551.77 0/1 99 45 24 21 0.47 exonic rs7206703 NLRC5 AU synonymous SNV NM_032206 exon27 c.T3747C p.D1249D 0.109625 0.1319 0.096722 0.0993 0.1515 1.000 P -1.069 T Likely benign 16_57095729_C->T 16 57095729 57095729 C T snp 505.77 0/1 99 34 14 20 0.59 intronic rs3751711 NLRC5 AU NM_032206 exon31 c.40989+116C>T 0.128195 0.3383 0.0857 0.3919 Uncertain 16_57095775_C->T 16 57095775 57095775 C T snp 439.77 0/1 99 52 31 21 0.4 intronic rs3751710 NLRC5 AU NM_032206 exon31 c.40989+162C>T 0.0996406 0.0476 0.1526 0.0621 0.000 P -1.066 T Uncertain 16_57099295_G->A 16 57099295 57099295 G A snp 496.77 0/1 99 63 37 26 0.41 intronic rs75662143 NLRC5 AU NM_032206 exon32 c.44586+85G>A 0.0864617 0.0476 Uncertain 16_57103579_G->A 16 57103579 57103579 G A snp 573.77 0/1 99 53 27 26 0.49 intronic rs289710 NLRC5 AU NM_032206 exon36 c.49123-168G>A 0.590855 0.625 Uncertain 16_57108465_G->C 16 57108465 57108465 G C snp 729.77 0/1 99 67 37 30 0.45 intronic rs7205801 NLRC5 AU NM_032206 exon38 c.53887-46G>C 0.209665 0.4514 0.064174 0.1256 0.4586 Uncertain 16_57110635_C->T 16 57110635 57110635 C T snp 884.77 0/1 99 84 43 41 0.49 intronic rs10500405 NLRC5 AU NM_032206 exon39 c.56106-95C>T 0.163538 0.0456 Uncertain 16_57111002_T->C 16 57111002 57111002 T C snp 188.77 0/1 99 14 7 7 0.5 intronic rs41383 NLRC5 AU NM_032206 exon39 c.56190+188T>C 0.472843 0.6349 Uncertain 16_57111364_G->C 16 57111364 57111364 G C snp 961.77 0/1 99 57 28 29 0.51 intronic rs34702866 NLRC5 AU NM_032206 exon40 c.56667+73G>C 0.281749 0.369 Uncertain 16_57111444_C->T 16 57111444 57111444 C T snp 79.78 0/1 24 4 1 3 0.75 intronic rs27726 NLRC5 AU NM_032206 exon40 c.56667+153C>T 0.295128 0.1567 Uncertain 16_57112865_G->A 16 57112865 57112865 G A snp 773.77 0/1 99 51 22 29 0.57 intronic rs8056429 NLRC5 AU NM_032206 exon43 c.58337-96G>A 0.0802716 0.2083 Uncertain 16_57113229_A->G 16 57113229 57113229 A G snp 2433.77 1/1 99 88 1 87 0.99 intronic rs42221 NLRC5 AU NM_032206 exon44 c.58580+25A>G 0.75639 0.8224 0.759651 0.7828 0.8226 Uncertain 16_57114924_A->G 16 57114924 57114924 A G snp 608.77 1/1 45 24 0 24 1.0 intronic rs154045 NLRC5 AU NM_032206 exon46 c.60385-85A>G 0.651957 0.8175 Uncertain 16_57114982_C->T 16 57114982 57114982 C T snp 1139.77 1/1 81 45 1 44 0.98 intronic rs154044 NLRC5 AU NM_032206 exon46 c.60385-27C>T 0.597843 0.8175 0.555925 0.6141 0.8361 Uncertain 16_57115274_T->C 16 57115274 57115274 T C snp 746.77 1/1 57 20 0 20 1.0 intronic rs154043 NLRC5 AU NM_032206 exon47 c.60814-164T>C 0.747604 0.8512 Uncertain 16_57115572_C->T 16 57115572 57115572 C T snp 757.77 0/1 99 55 26 29 0.53 intronic rs58379618 NLRC5 AU NM_032206 exon47 c.60898+50C>T 0.124401 0.3115 0.017698 0.0782 0.2987 Uncertain 16_57116287_A->G 16 57116287 57116287 A G snp 1680.77 1/1 99 60 0 60 1.0 intronic rs27195 NLRC5 AU NM_032206 exon48 c.61704-41A>G 0.787141 0.8512 0.778086 0.7760 0.8554 Uncertain 16_57116458_T->C 16 57116458 57116458 T C snp 300.77 0/1 99 27 14 13 0.48 UTR3 rs3751705 NLRC5 AU 0.125799 0.3115 0.018006 0.0792 0.3025 Uncertain 16_57116514_T->A 16 57116514 57116514 T A snp 169.9 1/1 15 5 0 5 1.0 UTR3 rs27194 NLRC5 AU 0.787939 0.8512 Uncertain 16_57127883_C->G 16 57127883 57127883 C G snp 1225.77 0/1 99 94 44 50 0.53 intronic rs9926472 CPNE2 AU 0.280351 0.3532 Uncertain 16_57128099_T->C 16 57128099 57128099 T C snp 3583.77 1/1 99 122 0 122 1.0 intronic rs8057953 CPNE2 AU 0.250599 0.4673 Uncertain 16_57128132_C->A 16 57128132 57128132 C A snp 1036.77 0/1 99 76 35 41 0.54 intronic rs75443589 CPNE2 AU 0.108427 0.2401 Uncertain 16_57144920_T->A 16 57144920 57144920 T A snp 1584.77 1/1 99 55 0 55 1.0 intronic rs8053682 CPNE2 AU NM_152727 exon2 c.180+86T>A 0.614018 0.6329 Uncertain 16_57144921_G->C 16 57144921 57144921 G C snp 1548.77 1/1 99 51 0 51 1.0 intronic rs8047463 CPNE2 AU NM_152727 exon2 c.180+87G>C 0.614018 0.6329 Uncertain 16_57147388_G->T 16 57147388 57147388 G T snp 2021.77 0/1 99 172 90 82 0.48 intronic rs2305701 CPNE2 AU NM_152727 exon3 c.2725+9G>T 0.200679 0.3254 0.109495 0.1016 0.3088 Uncertain 16_57149174_C->T 16 57149174 57149174 C T snp 180.9 1/1 15 5 0 5 1.0 intronic rs66736014 CPNE2 AU NM_152727 exon4 c.4733-213C>T 0.298522 0.2877 Uncertain 16_57153019_G->A 16 57153019 57153019 G A snp 1185.77 0/1 99 122 69 53 0.43 intronic rs2305698 CPNE2 AU NM_152727 exon6 c.8452-87G>A 0.0832668 0.1032 Uncertain 16_57153441_C->G 16 57153441 57153441 C G snp 2137.77 0/1 99 185 95 90 0.49 intronic rs75543218 CPNE2 AU NM_152727 exon7 c.8818-31C>G 0.105631 0.3165 0.026170 0.0642 0.3281 Uncertain 16_57159248_C->T 16 57159248 57159248 C T snp 1097.77 0/1 99 101 52 49 0.49 intronic rs4784771 CPNE2 AU NM_152727 exon11 c.15117-523C>T 0.626398 0.6349 0.5457 0.6618 Uncertain 16_57159402_A->G 16 57159402 57159402 A G snp 142.77 0/1 99 13 7 6 0.46 intronic rs4784772 CPNE2 AU NM_152727 exon11 c.15117-369A>G 0.626398 0.6349 Uncertain 16_57160026_T->C 16 57160026 57160026 T C snp 535.77 0/1 99 26 9 17 0.65 intronic rs2278985 CPNE2 AU NM_152727 exon11 c.15251+121T>C 0.0942492 0.127 Uncertain 16_57171233_C->G 16 57171233 57171233 C G snp 5723.77 1/1 99 196 0 196 1.0 intronic rs2305693 CPNE2 AU NM_152727 exon14 c.26540+39C>G 0.92512 0.9742 0.896968 0.9100 0.9663 Uncertain 16_57197745_G->T 16 57197745 57197745 G T snp 3418.77 1/1 99 110 0 110 1.0 intronic rs62037356 FAM192A AU NM_024946 exon2 c.9711-167G>T 0.971446 0.9911 Uncertain 16_57206637_G->A 16 57206637 57206637 G A snp 80.77 0/1 28 4 1 3 0.75 intronic rs3751702 FAM192A AU NM_024946 exon5 c.18486-50G>A 0.374002 0.379 0.360289 0.3907 0.3175 Uncertain 16_57255363_T->C 16 57255363 57255363 T C snp 1352.77 1/1 99 46 0 46 1.0 intronic rs7206038 RSPRY1 AR NM_001305163 exon10 c.16757+36T>C 0.971046 0.9911 0.959449 0.9447 0.9815 Uncertain 16_57261146_A->C 16 57261146 57261146 A C snp 1147.77 1/1 84 35 0 35 1.0 intronic rs11643790 RSPRY1 AR NM_001305163 exon11 c.22683-107A>C 0.801917 0.7788 Uncertain 16_57272962_CT->- 16 57272962 57272963 CT - indel 236.73 0/1 99 23 10 13 0.57 UTR3 rs3217258 RSPRY1 AR Uncertain 16_57392508_G->- 16 57392508 57392508 G - indel 244.75 1/1 24 8 0 8 1.0 upstream rs3214179 CCL22 AU 0.425319 0.5238 Uncertain 16_57392733_A->C 16 57392733 57392733 A C snp 4083.77 1/1 99 147 1 146 0.99 exonic rs4359426 CCL22 AU nonsynonymous SNV NM_002990 exon1 c.A5C p.D2A 0.916534 0.879 0.951831 0.9199 0.8666 1 T 0.000 P -0.964 T 0.0 T 0.0 T ID=CM093131;DIS=Helicobacter pylori-related gastric carcinoma, association with;TAG=DP;PUB=19298002 DP Pathogenic 16_57406571_G->C 16 57406571 57406571 G C snp 2705.77 0/1 99 228 114 114 0.5 intronic rs76505297 CX3CL1 AU NM_002996 exon1 c.70+21G>C 0.0061901 0.0139 0.000308 0.0058 0.0145 Uncertain 16_57481305_T->C 16 57481305 57481305 T C snp 543.77 0/1 99 55 30 25 0.45 UTR5 rs178602 CIAPIN1 AU 0.759585 0.624 Uncertain 16_57486613_C->T 16 57486613 57486613 C T snp 40.77 0/1 69 6 4 2 0.33 intronic rs686402 COQ9 AR NM_020312 exon3 c.5295-99C>T 0.441893 0.4802 Uncertain 16_57494178_T->C 16 57494178 57494178 T C snp 457.77 0/1 99 47 28 19 0.4 intronic rs223868 COQ9 AR NM_020312 exon8 c.12599+162T>C 0.763179 0.624 Uncertain 16_57495026_T->C 16 57495026 57495026 T C snp 1051.77 1/1 75 38 0 38 1.0 UTR3 rs223870 COQ9 AR 0.992612 1 Uncertain 16_57496494_A->G 16 57496494 57496494 A G snp 309.77 0/1 99 19 8 11 0.58 upstream rs178601 POLR2C AU 0.758586 0.6091 Uncertain 16_57499841_A->G 16 57499841 57499841 A G snp 688.77 0/1 99 67 39 28 0.42 intronic rs223839 POLR2C AU NM_032940 exon3 c.3228-23A>G 0.491414 0.4821 0.557633 0.5250 0.5045 Uncertain 16_57499902_T->C 16 57499902 57499902 T C snp 926.77 0/1 99 91 51 40 0.44 exonic rs4937 POLR2C AU synonymous SNV NM_032940 exon3 c.T174C p.V58V 0.758387 0.6091 0.815328 0.7209 0.6001 Uncertain 16_57503213_C->T 16 57503213 57503213 C T snp 1883.77 0/1 99 208 119 89 0.43 intronic rs601194 POLR2C AU NM_032940 exon5 c.6569+8C>T 0.447284 0.4802 0.504386 0.4923 0.5016 Uncertain 16_57503773_G->A 16 57503773 57503773 G A snp 1279.77 0/1 99 98 52 46 0.47 intronic rs223874 POLR2C AU NM_032940 exon7 c.7236-99G>A 0.765575 0.624 Uncertain 16_57507777_-->C 16 57507777 57507777 - C indel 575.73 0/1 99 35 12 23 0.66 intronic rs11458669 DOK4 AU NM_018110 exon3 c.524-35insC 0.4924 0.5027 Uncertain 16_57508960_T->C 16 57508960 57508960 T C snp 902.77 0/1 99 91 52 39 0.43 intronic rs477025 DOK4 AU NM_018110 exon5 c.1723-51T>C 0.441294 0.4851 0.498430 Uncertain 16_57509164_A->G 16 57509164 57509164 A G snp 741.77 0/1 99 48 18 30 0.63 intronic rs223877 DOK4 AU NM_018110 exon5 c.1843+33A>G 0.749401 0.6042 0.817175 0.7167 0.5936 Uncertain 16_57509572_-->TCTC 16 57509572 57509572 - TCTC indel 535.9 0/1 14 37 1 36 0.97 intronic rs756244163 DOK4 AU NM_018110 exon6 c.2244+40insTCTC 0.0057 0.0224 Uncertain 16_57509661_C->T 16 57509661 57509661 C T snp 74.77 0/1 99 21 17 4 0.19 intronic DOK4 AU NM_018110 exon7 c.2473-100C>T Uncertain 16_57509666_T->C 16 57509666 57509666 T C snp 159.77 0/1 99 22 16 6 0.27 intronic rs753718671 DOK4 AU NM_018110 exon7 c.2473-95T>C Uncertain 16_57509956_G->C 16 57509956 57509956 G C snp 949.77 0/1 99 77 39 38 0.49 intronic rs2074545 DOK4 AU NM_018110 exon7 c.2581+87G>C 0.513578 0.498 Uncertain 16_57562423_T->C 16 57562423 57562423 T C snp 811.77 0/1 99 63 28 35 0.56 intronic rs8045906 CCDC102A AU NM_033212 exon8 c.15852-81T>C 0.535144 0.3165 Uncertain 16_57562804_G->A 16 57562804 57562804 G A snp 3080.77 1/1 99 131 1 130 0.99 exonic rs12935069 CCDC102A AU nonsynonymous SNV NM_033212 exon2 c.C286T p.R96W 1 1 1 1 0.24 T 0.022 P -0.930 T 0.0 T 0.0 T Pathogenic 16_57563111_A->G 16 57563111 57563111 A G snp 168.77 0/1 99 13 4 9 0.69 UTR5 rs4784815 CCDC102A AU 0.536342 0.3155 0.6364 0 Uncertain 16_57595999_A->G 16 57595999 57595999 A G snp 1415.77 0/1 99 136 71 65 0.48 UTR5 rs1004363 ADGRG5 AU 0.392772 0.4573 0.379963 0.3660 0.4886 Uncertain 16_57596552_C->T 16 57596552 57596552 C T snp 304.77 0/1 99 14 4 10 0.71 intronic rs1859259 ADGRG5 AU NM_153837 exon3 c.366+181C>T 0.354233 0.4544 Uncertain 16_57601792_C->T 16 57601792 57601792 C T snp 1537.77 0/1 99 135 66 69 0.51 exonic rs9937918 ADGRG5 AU synonymous SNV NM_001304376 exon9 c.C846T p.R282R 0.454273 0.7123 0.311634 0.3734 0.7025 Uncertain 16_57625470_C->T 16 57625470 57625470 C T snp 179.77 0/1 99 15 8 7 0.47 intergenic rs11646739 ADGRG5 AU 0.613219 0.5843 Uncertain 16_57687313_-->C 16 57687313 57687313 - C indel 1007.73 1/1 31 75 6 69 0.92 intronic rs201243970 ADGRG1 AR,AU NM_001145771 exon5 c.3048+66insC 0.0571086 0.0982 Uncertain 16_57687314_T->C 16 57687314 57687314 T C snp 1880.77 ./1 99 74 0 74 1.0 intronic rs2305307 ADGRG1 AR,AU NM_001145771 exon5 c.3048+67T>C 0.540735 0.255 Uncertain 16_57687314_T->G 16 57687314 57687314 T G snp 1880.77 ./1 99 74 0 74 1.0 intronic rs2305307 ADGRG1 AR,AU NM_001145771 exon5 c.3048+67T>G 0.0571086 0.0982 Uncertain 16_57689230_-->GT 16 57689230 57689230 - GT indel 453.73 1/1 36 12 0 12 1.0 intronic rs34289485 ADGRG1 AR,AU NM_001145771 exon7 c.5111-80insGT 0.287141 0.2292 Uncertain 16_57689385_C->G 16 57689385 57689385 C G snp 3705.77 1/1 99 135 1 134 0.99 exonic rs1801257 ADGRG1 AR,AU nonsynonymous SNV NM_005682 exon7 c.C843G p.S281R 0.720847 0.8591 0.605186 0.5918 0.8512 0.97 T 0.0 P -0.982 T 0.0 T 0.001 T CLINSIG=non-pathogenic;CLNDBN=not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000125256.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Pathogenic 16_57689883_T->C 16 57689883 57689883 T C snp 2551.77 1/1 99 87 0 87 1.0 exonic rs1376041 ADGRG1 AR,AU synonymous SNV NM_005682 exon8 c.T996C p.T332T 0.816693 0.7956 0.784472 0.7566 0.8093 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000146064.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 16_57690319_A->G 16 57690319 57690319 A G snp 526.77 0/1 99 32 16 16 0.5 intronic rs2305308 ADGRG1 AR,AU NM_001145771 exon10 c.6226-106A>G 0.126997 0.1042 Uncertain 16_57690606_C->A 16 57690606 57690606 C A snp 1278.77 0/1 99 104 54 50 0.48 intronic rs11866912 ADGRG1 AR,AU NM_001145771 exon10 c.6330+77C>A 0.433706 0.4018 Uncertain 16_57691409_G->A 16 57691409 57691409 G A snp 1066.77 0/1 99 102 50 52 0.51 splicing rs74326170 ADGRG1 AR,AU NM_001145771 exon11 c.7204+6G>A 0.0742812 0.0992 0.056787 0.0272 0.0883 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_provided|not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter|criteria_provided\x2c_single_submitter;CLNACC=RCV000125257.1|RCV000146036.1;CLNDSDB=MedGen|MedGen;CLNDSDBID=CN221809|CN169374 Pathogenic 16_57691516_G->C 16 57691516 57691516 G C snp 225.77 0/1 99 14 5 9 0.64 intronic rs75286508 ADGRG1 AR,AU NM_001145771 exon11 c.7204+113G>C 0.077476 0.0992 Uncertain 16_57697532_T->G 16 57697532 57697532 T G snp 3382.77 1/1 99 117 0 117 1.0 UTR3 rs10852554 ADGRG1 AR,AU 0.847843 0.9524 0.766390 0.7564 0.9479 Uncertain 16_57697568_C->A 16 57697568 57697568 C A snp 752.77 0/1 99 57 29 28 0.49 UTR3 rs10852555 ADGRG1 AR,AU 0.573682 0.7123 Uncertain 16_57702274_G->T 16 57702274 57702274 G T snp 269.77 0/1 99 41 28 13 0.32 exonic rs62039891 ADGRG3 AU nonsynonymous SNV NM_170776 exon1 c.G15T p.R5S 0.101038 0.2302 0.077626 0.1586 0.3033 0 D 0.000 P -1.028 T 0.421 T 0.026 T Pathogenic 16_57702473_T->C 16 57702473 57702473 T C snp 430.77 1/1 33 12 0 12 1.0 intronic rs7205731 ADGRG3 AU NM_170776 exon1 c.58+156T>C 0.860224 0.9812 Uncertain 16_57708416_C->T 16 57708416 57708416 C T snp 1025.77 0/1 99 92 46 46 0.5 intronic rs8051879 ADGRG3 AU NM_170776 exon2 c.5121+1036C>T 0.316693 0.3909 Uncertain 16_57713030_G->C 16 57713030 57713030 G C snp 459.77 0/1 99 60 42 18 0.3 intronic rs80122575 ADGRG3 AU NM_170776 exon5 c.10829-58G>C 0.0289537 0.0873 Uncertain 16_57713037_G->A 16 57713037 57713037 G A snp 525.77 0/1 99 68 46 22 0.32 intronic rs76207354 ADGRG3 AU NM_170776 exon5 c.10829-51G>A 0.0289537 0.0873 Uncertain 16_57713250_C->T 16 57713250 57713250 C T snp 4880.77 1/1 99 183 1 182 0.99 intronic rs4238795 ADGRG3 AU NM_170776 exon5 c.10964+27C>T 0.591254 0.5437 0.526393 0.4931 0.5959 Uncertain 16_57713477_G->C 16 57713477 57713477 G C snp 46.77 0/1 33 3 1 2 0.67 intronic rs78114277 ADGRG3 AU NM_170776 exon6 c.11468-250G>C 0.0289537 0.0873 Uncertain 16_57713508_T->C 16 57713508 57713508 T C snp 165.77 0/1 99 15 9 6 0.4 intronic rs74624241 ADGRG3 AU NM_170776 exon6 c.11468-219T>C 0.0295527 0.0873 Uncertain 16_57713534_A->G 16 57713534 57713534 A G snp 695.77 0/1 99 46 24 22 0.48 intronic rs9925766 ADGRG3 AU NM_170776 exon6 c.11468-193A>G 0.278954 0.4812 Uncertain 16_57713536_G->A 16 57713536 57713536 G A snp 788.77 0/1 99 53 26 27 0.51 intronic rs4784006 ADGRG3 AU NM_170776 exon6 c.11468-191G>A 0.171126 0.0655 Uncertain 16_57713647_G->T 16 57713647 57713647 G T snp 2606.77 0/1 99 250 145 105 0.42 intronic rs59464512 ADGRG3 AU NM_170776 exon6 c.11468-80G>T 0.0297524 0.0903 0.000219 Uncertain 16_57713685_A->C 16 57713685 57713685 A C snp 2445.77 0/1 99 248 143 105 0.42 intronic rs9925879 ADGRG3 AU NM_170776 exon6 c.11468-42A>C 0.258786 0.4812 0.142813 0.2011 0.5323 Uncertain 16_57713934_C->T 16 57713934 57713934 C T snp 44.74 1/1 6 3 1 2 0.67 intronic rs556496841 ADGRG3 AU NM_170776 exon6 c.11508+167C>T 0.392173 0.372 Uncertain 16_57722328_C->T 16 57722328 57722328 C T snp 699.77 0/1 99 66 35 31 0.47 exonic rs12444859 ADGRG3 AU synonymous SNV NM_170776 exon12 c.C1605T p.S535S 0.347444 0.3274 0.350339 0.3286 0.3172 Uncertain 16_57723752_A->G 16 57723752 57723752 A G snp 2456.77 0/1 99 192 88 104 0.54 downstream rs9939524 ADGRG3 AU 0.292732 0.2877 0.2023 0.2959 0.06 T 0.0 P -0.925 T Uncertain 16_57724782_T->C 16 57724782 57724782 T C snp 46.74 1/1 6 2 0 2 1.0 intergenic rs11860254 ADGRG3 AU 0.271366 0.2877 Uncertain 16_57732997_G->A 16 57732997 57732997 G A snp 360.77 0/1 99 25 14 11 0.44 intronic rs78305330 DRC7 AU NM_032269 exon3 c.1075+61G>A 0.0501198 0.1508 Uncertain 16_57735900_G->C 16 57735900 57735900 G C snp 7172.77 1/1 99 250 1 249 1.0 exonic rs7196016 DRC7 AU nonsynonymous SNV NM_032269 exon5 c.G557C p.C186S 0.284545 0.376 0.256848 0.2850 0.3957 0.28 T 1.0 P -0.951 T 0.585 P 0.12 P Pathogenic 16_57752516_G->C 16 57752516 57752516 G C snp 557.77 1/1 42 16 0 16 1.0 intronic rs62039922 DRC7 AU NM_032269 exon8 c.20526+129G>C 0.0828674 0.2093 Uncertain 16_57760824_C->T 16 57760824 57760824 C T snp 5099.77 1/1 99 197 2 195 0.99 exonic rs2967125 DRC7 AU synonymous SNV NM_001289163 exon13 c.C1860T p.S620S 0.0732827 0.2153 0.007855 0.0529 0.2469 Uncertain 16_57760906_T->C 16 57760906 57760906 T C snp 1285.77 1/1 93 41 0 41 1.0 intronic rs2923145 DRC7 AU NM_032269 exon14 c.28993+52T>C 0.091853 0.2163 0.031947 0.0480 0.2349 Uncertain 16_57762401_T->C 16 57762401 57762401 T C snp 2719.77 1/1 99 95 0 95 1.0 exonic rs2923147 DRC7 AU nonsynonymous SNV NM_001289163 exon15 c.T2101C p.C701R 0.394569 0.3839 0.347197 0.2842 0.4097 1 T 0.0 P -0.941 T 0.0 T 0.0 T Pathogenic 16_57770732_C->T 16 57770732 57770732 C T snp 782.77 1/1 57 25 0 25 1.0 intronic rs874993 KATNB1 AR 0.0864617 0.2302 Uncertain 16_57799413_G->A 16 57799413 57799413 G A snp 1460.77 0/1 99 125 64 61 0.49 exonic rs200687702 KIFC3 AU synonymous SNV NM_001130099 exon10 c.C1053T p.F351F 0.000199681 0.001 0.0002 0.0018 Uncertain 16_57850141_C->G 16 57850141 57850141 C G snp 1515.77 0/1 99 114 51 63 0.55 UTR3 rs1477404 LOC388282 AU 0.249601 0.1042 0.3158 0.1212 Uncertain 16_57850192_T->C 16 57850192 57850192 T C snp 1555.77 0/1 99 157 89 68 0.43 UTR3 LOC388282 AU 0.158746 0.2093 0.0880 0.2626 Uncertain 16_57850605_C->T 16 57850605 57850605 C T snp 1781.77 0/1 99 196 119 77 0.39 UTR3 LOC388282 AU 0.156949 0.2093 0.0899 0.2673 0 D 0.000 P -1.097 T 0.99 D 0.844 D Uncertain 16_57931233_C->G 16 57931233 57931233 C G snp 961.77 1/1 72 32 0 32 1.0 intronic rs78155143 CNGB1 AR NM_001286130 exon3 c.13233-67C>G 0.119808 0.2659 Uncertain 16_57937856_G->C 16 57937856 57937856 G C snp 1513.77 1/1 99 50 0 50 1.0 exonic rs413562 CNGB1 AR synonymous SNV NM_001297 exon27 c.C2664G p.A888A 0.704872 0.9077 0.791640 0.7604 0.9175 CLINSIG=non-pathogenic,non-pathogenic;CLNDBN=not_specified,not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter,criteria_provided\x2c_single_submitter;CLNACC=RCV000153043.2,RCV000079632.3;CLNDSDB=MedGen,MedGen;CLNDSDBID=CN169374,CN169374 Uncertain 16_57946973_A->G 16 57946973 57946973 A G snp 1946.77 1/1 99 59 0 59 1.0 intronic rs434961 CNGB1 AR NM_001286130 exon10 c.28831+75A>G 0.644369 0.6419 Uncertain 16_57949251_G->A 16 57949251 57949251 G A snp 1863.77 1/1 99 73 0 73 1.0 intronic rs483053 CNGB1 AR NM_001286130 exon11 c.31172+12G>A 0.49401 0.5635 0.482962 0.5080 0.5747 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000079629.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 16_57950057_G->A 16 57950057 57950057 G A snp 3302.77 1/1 99 112 0 112 1.0 exonic rs376270 CNGB1 AR synonymous SNV NM_001297 exon22 c.C2193T p.N731N 0.362021 0.5486 0.293905 0.3575 0.5698 Uncertain 16_57950178_G->C 16 57950178 57950178 G C snp 4013.77 1/1 99 145 0 145 1.0 intronic rs440565 CNGB1 AR NM_001286130 exon12 c.32016+95G>C 0.763578 0.7381 Uncertain 16_57951421_G->A 16 57951421 57951421 G A snp 533.77 1/1 42 17 0 17 1.0 intronic rs691490 CNGB1 AR NM_001286130 exon13 c.33313+41G>A 0.34984 0.5595 0.270903 0.3525 0.5721 Uncertain 16_57952870_A->G 16 57952870 57952870 A G snp 1046.77 1/1 78 28 0 28 1.0 intronic rs489106 CNGB1 AR NM_001286130 exon14 c.34935-132A>G 0.348642 0.5585 Uncertain 16_57954268_A->G 16 57954268 57954268 A G snp 2856.77 1/1 99 112 1 111 0.99 intronic rs166000 CNGB1 AR NM_001286130 exon15 c.36223-22A>G 0.691094 0.7133 0.640050 0.6390 0.7334 Uncertain 16_57954434_G->A 16 57954434 57954434 G A snp 801.77 0/1 99 69 35 34 0.49 exonic rs374424738 CNGB1 AR nonsynonymous SNV NM_001297 exon19 c.C1658T p.A553V 6.634e-05 0 0.1 T 0.711 D 0.061 D 0.999 D 0.844 D Pathogenic 16_57957138_G->C 16 57957138 57957138 G C snp 439.77 1/1 33 14 0 14 1.0 intronic rs247065 CNGB1 AR NM_001286130 exon16 c.39109-38G>C 0.726038 0.7113 0.655474 0.6529 0.7276 Uncertain 16_57984483_G->A 16 57984483 57984483 G A snp 980.77 1/1 72 28 0 28 1.0 intronic rs152143 CNGB1 AR NM_001286130 exon21 c.66377+39G>A 0.991214 1 0.986316 0.9876 1 Uncertain 16_57991317_C->T 16 57991317 57991317 C T snp 1262.77 1/1 90 46 0 46 1.0 intronic rs503686 CNGB1 AR NM_001286130 exon22 c.73214+36C>T 0.645367 0.8204 0.649313 0.7459 0.8482 Uncertain 16_57994724_C->T 16 57994724 57994724 C T snp 2698.77 1/1 99 105 0 105 1.0 intronic rs2288485 CNGB1 AR NM_001286130 exon26 c.76676-19C>T 0.208666 0.379 0.146317 0.2321 0.4256 Uncertain 16_57996960_C->T 16 57996960 57996960 C T snp 3571.77 1/1 99 127 0 127 1.0 exonic rs13336595 CNGB1 AR nonsynonymous SNV NM_001297 exon5 c.G299A p.R100H 0.751997 0.8214 0.754964 0.7755 0.8494 0.24 T 0.0 P -0.904 T 0.991 D 0.396 D Pathogenic 16_57998345_C->T 16 57998345 57998345 C T snp 1452.77 1/1 99 46 0 46 1.0 intronic rs3859043 CNGB1 AR NM_001286130 exon31 c.80323-45C>T 0.701877 0.8214 0.709827 0.7626 0.8500 Uncertain 16_58018063_C->T 16 58018063 58018063 C T snp 490.77 0/1 99 36 19 17 0.47 intronic rs77582168 TEPP AU NM_199046 exon3 c.7831-143C>T 0.0197684 0.0169 Uncertain 16_58019066_G->- 16 58019066 58019066 G - indel 940.73 0/1 99 62 29 33 0.53 intronic rs35768173 TEPP AU NM_199046 exon5 c.8734-43delG 0.783147 0.5704 0.8646 0.6816 Uncertain 16_58019070_G->C 16 58019070 58019070 G C snp 675.77 0/1 99 74 41 33 0.45 intronic rs2304485 TEPP AU NM_199046 exon5 c.8734-39G>C 0.379393 0.2589 0.2617 0.2828 Uncertain 16_58019396_G->A 16 58019396 58019396 G A snp 2488.77 0/1 99 157 58 99 0.63 exonic rs9934227 TEPP AU nonsynonymous SNV NM_199046 exon6 c.G779A p.S260N 0.783546 0.5595 0.878193 0.8002 0.5402 1 T 0.0 P -0.982 T 0.0 T 0.0 T Pathogenic 16_58021395_A->C 16 58021395 58021395 A C snp 996.77 0/1 99 83 44 39 0.47 UTR3 rs2241771 TEPP AU 0.784744 0.5575 0.872098 Uncertain 16_58030401_T->C 16 58030401 58030401 T C snp 904.77 0/1 99 76 42 34 0.45 UTR3 rs3743555 ZNF319 AU 0.672524 0.5387 0.751705 0.7338 0.6204 Uncertain 16_58030634_C->T 16 58030634 58030634 C T snp 2757.77 0/1 99 249 126 123 0.49 exonic rs3743556 ZNF319 AU synonymous SNV NM_020807 exon2 c.G1536A p.K512K 0.672324 0.5377 0.717375 0.6698 0.5260 Uncertain 16_58035652_A->T 16 58035652 58035652 A T snp 44.77 0/1 33 3 1 2 0.67 intronic rs12599089 USB1 AR NM_001204911 exon1 c.98+167A>T 0.674321 0.5327 Uncertain 16_58036347_G->A 16 58036347 58036347 G A snp 2117.77 0/1 99 168 82 86 0.51 intronic rs3743560 USB1 AR NM_001204911 exon2 c.995-35G>A 0.56849 0.5 0.621824 0.6398 0.4856 Uncertain 16_58053161_C->T 16 58053161 58053161 C T snp 86.77 0/1 30 4 1 3 0.75 intronic rs3743562 USB1 AR NM_001195302 exon5 c.17572+202C>T 0.781749 0.6131 Uncertain 16_58079152_G->C 16 58079152 58079152 G C snp 202.77 0/1 99 35 24 11 0.31 exonic rs199777969 MMP15 AU synonymous SNV NM_002428 exon10 c.G1812C p.G604G 0.000798722 0.003 0.0005 0.0058 Uncertain 16_58148584_G->A 16 58148584 58148584 G A snp 125.8 0/1 21 5 1 4 0.8 intronic rs35432967 CFAP20 AU NM_013242 exon2 c.785-129G>A 0.125599 0.1389 Uncertain 16_58199670_C->T 16 58199670 58199670 C T snp 952.77 0/1 99 75 31 44 0.59 intronic rs2242444 CSNK2A2 AU NM_001896 exon3 c.1638+58C>T 0.225439 0.1319 Uncertain 16_58199752_G->T 16 58199752 58199752 G T snp 224.84 1/1 18 6 0 6 1.0 intronic rs2242443 CSNK2A2 AU NM_001896 exon3 c.1638+140G>T 0.653554 0.7937 Uncertain 16_58200973_C->T 16 58200973 58200973 C T snp 110.77 0/1 99 10 6 4 0.4 intronic rs2292028 CSNK2A2 AU NM_001896 exon5 c.3136-137C>T 0.127596 0.1319 Uncertain 16_58201628_T->C 16 58201628 58201628 T C snp 1063.77 0/1 99 77 33 44 0.57 exonic rs2292027 CSNK2A2 AU synonymous SNV NM_001896 exon7 c.A585G p.S195S 0.00958466 0.0446 0.000077 0.0043 0.0551 Uncertain 16_58201759_A->G 16 58201759 58201759 A G snp 593.77 0/1 99 48 23 25 0.52 intronic rs12920269 CSNK2A2 AU NM_001896 exon6 c.3725+60A>G 0.124201 0.1329 Uncertain 16_58217976_T->C 16 58217976 58217976 T C snp 83.77 0/1 69 5 2 3 0.6 intronic rs3743579 CSNK2A2 AU NM_001896 exon9 c.20189-187T>C 0.183906 0.3661 Uncertain 16_58296545_G->A 16 58296545 58296545 G A snp 708.77 1/1 54 21 0 21 1.0 intronic rs3815802 CCDC113 AU NM_014157 exon6 c.12526+101G>A 0.729233 0.6577 Uncertain 16_58301361_TT->- 16 58301361 58301362 TT - indel 2879.73 0/1 99 99 40 59 0.6 intronic rs3833047 CCDC113 AU NM_014157 exon7 c.17464-21_17464-20delTT 0.0758786 0.119 0.071486 0.0944 0.1231 Uncertain 16_58312358_T->- 16 58312358 58312358 T - indel 557.73 0/1 99 29 14 15 0.52 intronic rs80172997 CCDC113 AU NM_014157 exon8 c.28467-27delT 0.0988419 0.1032 0.099681 0.1116 0.1154 Uncertain 16_58312702_-->TTTTG 16 58312702 58312702 - TTTTG indel 180.73 0/1 99 7 2 5 0.71 intronic rs201218854 CCDC113 AU NM_014157 exon8 c.28623+161insTTTTG Uncertain 16_58312703_G->T 16 58312703 58312703 G T snp 154.78 0/1 27 7 2 5 0.71 intronic rs115810391 CCDC113 AU NM_014157 exon8 c.28623+162G>T Uncertain 16_58313806_C->A 16 58313806 58313806 C A snp 243.8 1/1 21 7 0 7 1.0 UTR3 rs4784915 CCDC113 AU 0.69988 0.5873 Uncertain 16_58314433_T->C 16 58314433 58314433 T C snp 2165.77 0/1 99 156 68 88 0.56 exonic rs2241414 PRSS54 AU nonsynonymous SNV NM_001305174 exon6 c.A586G p.T196A 0.0946486 0.1032 0.096106 0.1046 0.1111 1 T 0.0 P -0.869 T 0.0 T 0.0 T Pathogenic 16_58314598_C->T 16 58314598 58314598 C T snp 1522.77 0/1 99 152 88 64 0.42 exonic rs1052276 PRSS54 AU nonsynonymous SNV NM_001305174 exon6 c.G421A p.V141I 0.0944489 0.1032 0.096030 0.1048 0.1110 1 T 0.0 P -0.982 T 0.122 T 0.079 T Pathogenic 16_58319783_A->G 16 58319783 58319783 A G snp 259.77 0/1 99 14 5 9 0.64 intronic rs72786155 PRSS54 AU NM_001080492 exon3 c.5713-57A>G 0.0946486 0.1042 Uncertain 16_58320211_T->C 16 58320211 58320211 T C snp 1058.77 1/1 78 30 0 30 1.0 intronic rs4784916 PRSS54 AU NM_001080492 exon3 c.5972+112T>C 0.692292 0.5853 Uncertain 16_58324803_A->G 16 58324803 58324803 A G snp 670.77 0/1 99 57 30 27 0.47 intronic rs3803583 PRSS54 AU NM_001080492 exon4 c.10735-59A>G 0.0792732 0.1062 Uncertain 16_58324807_T->C 16 58324807 58324807 T C snp 728.77 0/1 99 62 35 27 0.44 intronic rs3803582 PRSS54 AU NM_001080492 exon4 c.10735-55T>C 0.0952476 0.1062 Uncertain 16_58327646_A->G 16 58327646 58327646 A G snp 1841.77 1/1 99 68 0 68 1.0 exonic rs2288012 PRSS54 AU synonymous SNV NM_001080492 exon3 c.T75C p.Y25Y 0.733427 0.631 0.813173 0.7445 0.6174 Uncertain 16_58327742_C->T 16 58327742 58327742 C T snp 1314.77 0/1 99 118 61 57 0.48 intronic rs2288013 PRSS54 AU NM_001080492 exon5 c.13599+16C>T 0.0892572 0.1637 0.075331 0.1244 0.2026 Uncertain 16_58327774_A->G 16 58327774 58327774 A G snp 1368.77 0/1 99 123 61 62 0.5 intronic rs2288014 PRSS54 AU NM_001080492 exon5 c.13599+48A>G 0.0589058 0.0734 0.037451 Uncertain 16_58327945_G->A 16 58327945 58327945 G A snp 346.77 0/1 99 16 5 11 0.69 UTR5 rs2288015 PRSS54 AU 0.0892572 0.1637 Uncertain 16_58528812_G->A 16 58528812 58528812 G A snp 1626.77 0/1 99 146 76 70 0.48 intronic rs34720527 NDRG4 AU NM_020465 exon3 c.7185-55G>A 0.145767 0.1071 0.165353 Uncertain 16_58533932_A->C 16 58533932 58533932 A C snp 432.77 1/1 33 12 0 12 1.0 intronic rs982697 NDRG4 AU NM_020465 exon4 c.16019-3769A>C 0.940695 0.8403 Uncertain 16_58537897_G->A 16 58537897 58537897 G A snp 777.77 1/1 60 22 0 22 1.0 intronic rs2427787 NDRG4 AU NM_020465 exon4 c.16125+90G>A 0.285942 0.2411 0.3946 0.2216 Uncertain 16_58538662_C->T 16 58538662 58538662 C T snp 380.77 0/1 99 25 10 15 0.6 intronic rs9928398 NDRG4 AU NM_020465 exon7 c.16871+109C>T 0.76877 0.9067 Uncertain 16_58540037_-->GT 16 58540037 58540037 - GT indel 2539.73 ./1 99 32 2 30 0.94 intronic NDRG4 AU NM_020465 exon8 c.18608-253insGT Uncertain 16_58540037_-->GTGTGTGTGTGTGTGT 16 58540037 58540037 - GTGTGTGTGTGTGTGT indel 2539.73 ./1 99 32 2 30 0.94 intronic NDRG4 AU NM_020465 exon8 c.18608-253insGTGTGTGTGTGTGTGT Uncertain 16_58540062_C->G 16 58540062 58540062 C G snp 634.77 0/1 99 49 20 29 0.59 intronic rs2550426 NDRG4 AU NM_020465 exon8 c.18608-228C>G 0.731829 0.9266 0.4634 0.6 Uncertain 16_58540595_A->G 16 58540595 58540595 A G snp 267.8 1/1 21 8 0 8 1.0 intronic rs40185 NDRG4 AU NM_020465 exon9 c.18836+77A>G 1 1 Uncertain 16_58543331_T->G 16 58543331 58543331 T G snp 132.77 0/1 99 17 12 5 0.29 intronic rs42944 NDRG4 AU NM_020465 exon15 c.21574+75T>G 0.137979 0.1796 0.123741 Uncertain 16_58545426_A->G 16 58545426 58545426 A G snp 2078.77 0/1 99 142 54 88 0.62 exonic rs42945 NDRG4 AU synonymous SNV NM_001130487 exon16 c.A1122G p.S374S 0.814297 0.9673 0.654119 0.6629 0.9653 Uncertain 16_58549341_G->T 16 58549341 58549341 G T snp 83.77 0/1 69 5 2 3 0.6 upstream rs3809594 SETD6 AU 0.429513 0.5665 Uncertain 16_58549932_T->C 16 58549932 58549932 T C snp 1967.77 1/1 99 76 0 76 1.0 exonic rs4784046 SETD6 AU synonymous SNV NM_001160305 exon2 c.T265C p.L89L 0.769968 0.9544 0.622470 0.6820 0.9484 Uncertain 16_58550300_-->AC 16 58550300 58550300 - AC indel 12776.7 1/1 99 246 0 246 1.0 intronic rs2067206 SETD6 AU NM_024860 exon4 c.806+53insAC 0.770168 0.9544 0.6542 0.9548 Uncertain 16_58552228_G->A 16 58552228 58552228 G A snp 681.77 0/1 99 61 35 26 0.43 intronic rs2280397 SETD6 AU NM_024860 exon8 c.2863-76G>A 0.485024 0.5694 Uncertain 16_58552921_G->A 16 58552921 58552921 G A snp 3872.77 1/1 99 135 0 135 1.0 exonic rs3607 SETD6 AU synonymous SNV NM_001160305 exon8 c.G1410A p.E470E 0.769569 0.9544 0.619344 0.6527 0.9545 Uncertain 16_58557209_-->A 16 58557209 58557209 - A indel 434.73 0/1 99 48 26 22 0.46 intronic rs398029533 CNOT1 AU NM_001265612 exon3 c.2412-64insA Uncertain 16_58561954_T->C 16 58561954 58561954 T C snp 433.77 0/1 99 35 21 14 0.4 intronic rs37057 CNOT1 AU NM_001265612 exon6 c.7517-424T>C 0.283546 0.3839 0.3181 0.35 Uncertain 16_58566304_G->A 16 58566304 58566304 G A snp 992.77 0/1 99 77 37 40 0.52 splicing rs37060 CNOT1 AU NM_001265612 exon9 c.11438+5G>A 0.283746 0.3849 0.220299 0.2805 0.3687 Pathogenic 16_58571185_C->T 16 58571185 58571185 C T snp 1694.77 1/1 99 54 0 54 1.0 intronic rs2244453 CNOT1 AU NM_001265612 exon11 c.16263+61C>T 0.819289 0.9712 Uncertain 16_58571189_T->C 16 58571189 58571189 T C snp 698.77 0/1 99 49 24 25 0.51 intronic rs2243463 CNOT1 AU NM_001265612 exon11 c.16263+65T>C 0.284345 0.3839 Uncertain 16_58573901_G->A 16 58573901 58573901 G A snp 265.77 0/1 99 20 10 10 0.5 intronic rs246194 CNOT1 AU NM_001265612 exon15 c.19002+38G>A 0.284345 0.3839 0.214604 0.2847 0.3691 Uncertain 16_58573946_C->T 16 58573946 58573946 C T snp 222.84 1/1 18 6 0 6 1.0 intronic rs246195 CNOT1 AU NM_001265612 exon15 c.19002+83C>T 0.798522 0.9712 Uncertain 16_58575489_G->A 16 58575489 58575489 G A snp 2296.77 0/1 99 205 102 103 0.5 exonic rs11540994 CNOT1 AU synonymous SNV NM_001265612 exon34 c.C4701T p.Y1567Y 0.485224 0.5704 0.398122 0.3684 0.5868 Uncertain 16_58577316_A->- 16 58577316 58577316 A - indel 374.73 0/1 99 43 18 25 0.58 intronic rs5817153 CNOT1 AU NM_001265612 exon19 c.22649-194delA 0.4075 0.4545 ID=COSM1378663;OCCURENCE=2(upper_aerodigestive_tract),1(large_intestine) Uncertain 16_58577421_C->T 16 58577421 58577421 C T snp 2437.77 1/1 99 84 0 84 1.0 intronic rs41260 CNOT1 AU NM_001265612 exon19 c.22649-89C>T 0.80631 0.9712 0.658746 0.7121 0.9634 Uncertain 16_58579158_A->C 16 58579158 58579158 A C snp 484.77 0/1 99 51 32 19 0.37 intronic rs42947 CNOT1 AU NM_001265612 exon20 c.24403-106A>C 0.284145 0.3839 Uncertain 16_58579274_C->T 16 58579274 58579274 C T snp 1184.77 0/1 99 105 50 55 0.52 exonic rs246258 CNOT1 AU synonymous SNV NM_001265612 exon30 c.G4113A p.L1371L 0.284345 0.3839 0.221761 0.2832 0.3685 Uncertain 16_58580213_T->C 16 58580213 58580213 T C snp 2387.77 0/1 99 166 70 96 0.58 intronic rs2241570 CNOT1 AU NM_001265612 exon21 c.25363-11T>C 0.485423 0.5694 0.398430 0.3696 0.5874 Uncertain 16_58580519_A->C 16 58580519 58580519 A C snp 1574.77 0/1 99 113 54 59 0.52 intronic rs246197 CNOT1 AU NM_001265612 exon22 c.25714-56A>C 0.142173 0.1954 0.127026 Uncertain 16_58580530_T->C 16 58580530 58580530 T C snp 1819.77 0/1 99 129 58 71 0.55 intronic rs173475 CNOT1 AU NM_001265612 exon22 c.25714-45T>C 0.283147 0.3839 0.221530 0.2832 0.3710 Uncertain 16_58580734_A->G 16 58580734 58580734 A G snp 502.77 0/1 99 47 25 22 0.47 intronic rs12597580 CNOT1 AU NM_001265612 exon22 c.25792+81A>G 0.123802 0.2708 Uncertain 16_58581228_C->T 16 58581228 58581228 C T snp 1461.77 0/1 99 116 56 60 0.52 intronic rs62067277 CNOT1 AU NM_001265612 exon23 c.26339+28C>T 0.120208 0.2669 0.031101 0.0812 0.2578 Uncertain 16_58583975_A->G 16 58583975 58583975 A G snp 44.78 0/1 27 3 1 2 0.67 intronic rs1549607 CNOT1 AU NM_001265612 exon25 c.28941+173A>G 0.715655 0.6161 Uncertain 16_58587737_C->T 16 58587737 58587737 C T snp 2128.77 0/1 99 192 103 89 0.46 exonic rs11866002 CNOT1 AU synonymous SNV NM_001265612 exon22 c.G2904A p.Q968Q 0.485224 0.5704 0.398046 0.3683 0.5866 Uncertain 16_58589112_G->A 16 58589112 58589112 G A snp 1687.77 0/1 99 112 47 65 0.58 intronic rs1568399 CNOT1 AU NM_001265612 exon29 c.34293-42G>A 0.485224 0.5704 0.396122 0.3705 0.5874 Uncertain 16_58608436_A->G 16 58608436 58608436 A G snp 953.77 0/1 99 61 25 36 0.59 intronic rs8054895 CNOT1 AU NM_001265612 exon34 c.53651-76A>G 0.428914 0.5704 Uncertain 16_58615223_T->C 16 58615223 58615223 T C snp 1999.77 0/1 99 180 99 81 0.45 intronic rs12596169 CNOT1 AU NM_001265612 exon39 c.60387-25T>C 0.121805 0.2708 0.031240 0.0823 0.2662 Uncertain 16_58622597_C->- 16 58622597 58622597 C - indel 1509.73 0/1 99 72 33 39 0.54 intronic rs34716647 CNOT1 AU NM_001265612 exon47 c.67841-105delC 0.715455 0.6161 Uncertain 16_58703879_AA->- 16 58703879 58703880 AA - indel 840.73 0/1 99 41 10 31 0.76 intronic rs200232590 SLC38A7 AU NM_018231 exon2 c.2728-137_2728-136delAA 0.194289 0.2867 Uncertain 16_58703966_A->G 16 58703966 58703966 A G snp 1308.77 0/1 99 122 68 54 0.44 intronic rs9923128 SLC38A7 AU NM_018231 exon2 c.2728-50A>G 0.667931 0.7292 0.615728 0.5674 0.7192 Uncertain 16_58704861_A->G 16 58704861 58704861 A G snp 346.77 0/1 99 35 23 12 0.34 intronic rs9806843 SLC38A7 AU NM_018231 exon3 c.3660-87A>G 0.371206 0.3155 Uncertain 16_58706326_C->T 16 58706326 58706326 C T snp 37.77 0/1 66 4 2 2 0.5 intronic rs75073067 SLC38A7 AU NM_018231 exon4 c.4859+179C>T 0.0605032 0.256 Uncertain 16_58743454_A->C 16 58743454 58743454 A C snp 2866.77 1/1 99 107 0 107 1.0 exonic rs30842 GOT2 AU nonsynonymous SNV NM_001286220 exon8 c.T908G p.V303G 0.755192 0.6607 0.745306 0.7117 0.6620 0.358 P -0.944 T 0.0 T 0.0 T Pathogenic 16_58750604_G->A 16 58750604 58750604 G A snp 1889.77 1/1 99 55 0 55 1.0 exonic rs1058192 GOT2 AU synonymous SNV NM_001286220 exon6 c.C687T p.C229C 0.720248 0.6478 0.713758 0.6703 0.6438 Uncertain 16_58757668_A->C 16 58757668 58757668 A C snp 3733.77 1/1 99 129 0 129 1.0 exonic rs14221 GOT2 AU synonymous SNV NM_001286220 exon2 c.T228G p.V76V 0.708267 0.6339 0.708833 0.6643 0.6348 Uncertain 16_58757683_A->G 16 58757683 58757683 A G snp 3489.77 1/1 99 120 1 119 0.99 exonic rs257636 GOT2 AU synonymous SNV NM_001286220 exon2 c.T213C p.N71N 0.689497 0.6032 0.696676 0.6585 0.6056 Uncertain 16_58767917_GT->- 16 58767917 58767918 GT - indel 3028.73 1/1 99 69 0 69 1.0 intronic rs3217426 GOT2 AU NM_002080 exon10 c.25969-126_25969-125delGT Uncertain 16_59772778_-->AG 16 59772778 59772778 - AG indel 281.73 0/1 53 15 3 12 0.8 intergenic rs59045839 GOT2 AU 0.02 0 Uncertain 16_61686848_T->C 16 61686848 61686848 T C snp 1591.77 0/1 99 128 60 68 0.53 UTR3 rs4581688 CDH8 AU 0.0750799 0.1062 0.1159 0.1462 Uncertain 16_61747669_T->G 16 61747669 61747669 T G snp 174.77 0/1 99 18 11 7 0.39 intronic rs12446623 CDH8 AU NM_001796 exon3 c.60233-75T>G 0.233227 0.2569 Uncertain 16_61761045_C->T 16 61761045 61761045 C T snp 3138.77 0/1 99 250 124 126 0.5 exonic rs746683292 CDH8 AU nonsynonymous SNV NM_001796 exon9 c.G1489A p.A497T 2.481e-05 0.0001 0.04 T 1 D -0.868 T 0.999 D 0.892 D Pathogenic 16_64982472_AAGAG->- 16 64982472 64982476 AAGAG - indel 1303.73 0/1 99 64 44 20 0.31 intronic rs60503515 CDH11 AU NM_001797 exon1 c.497+470_497+474delAAGAG 0.104321 0.1752 0.4021 Uncertain 16_64982477_T->C 16 64982477 64982477 T C snp 367.77 0/1 99 64 45 19 0.3 intronic rs57831187 CDH11 AU NM_001797 exon1 c.497+475T>C 0.216254 0.4236 0.1752 0.4031 Uncertain 16_64985093_A->G 16 64985093 64985093 A G snp 308.77 0/1 78 12 3 9 0.75 intronic rs35145 CDH11 AU NM_001797 exon2 c.3416+172A>G 0.193291 0.2024 Uncertain 16_65005395_T->C 16 65005395 65005395 T C snp 633.77 0/1 99 61 35 26 0.43 intronic rs3785315 CDH11 AU NM_001797 exon3 c.23976-86T>C 0.217652 0.4236 Uncertain 16_65005462_G->A 16 65005462 65005462 G A snp 2129.77 0/1 99 193 100 93 0.48 intronic rs12597529 CDH11 AU NM_001797 exon3 c.23976-19G>A 0.547324 0.7907 0.415116 0.5274 0.7866 Uncertain 16_65015908_C->G 16 65015908 65015908 C G snp 736.77 0/1 99 48 21 27 0.56 intronic rs35214 CDH11 AU NM_001797 exon6 c.34445-42C>G 0.19389 0.2044 0.272951 0.2800 0.2137 Uncertain 16_65016087_A->C 16 65016087 65016087 A C snp 2814.77 1/1 99 109 0 109 1.0 exonic rs35213 CDH11 AU nonsynonymous SNV NM_001797 exon8 c.T1117G p.S373A 0.745407 0.995 0.692757 0.8043 0.9987 0.53 T 0.0 P -0.969 T 0.001 T 0.004 T Pathogenic 16_65016285_C->A 16 65016285 65016285 C A snp 948.77 1/1 72 32 0 32 1.0 intronic rs35212 CDH11 AU NM_001797 exon6 c.34699+81C>A 0.770168 0.995 Uncertain 16_65022114_C->T 16 65022114 65022114 C T snp 2844.77 0/1 99 230 117 113 0.49 exonic rs28216 CDH11 AU synonymous SNV NM_001797 exon7 c.G945A p.S315S 0.223642 0.2054 0.322159 0.3306 0.2129 Uncertain 16_65022234_C->T 16 65022234 65022234 C T snp 1645.77 0/1 99 119 53 66 0.55 exonic rs1130821 CDH11 AU nonsynonymous SNV NM_001797 exon7 c.G825A p.M275I 0.217252 0.4216 0.115254 0.1824 0.4273 0.03 T 1.000 P -0.566 T 0.94 T 0.731 D Pathogenic 16_65025658_T->C 16 65025658 65025658 T C snp 1804.77 1/1 99 55 0 55 1.0 intronic rs35196 CDH11 AU NM_001797 exon8 c.44165-12T>C 0.926917 0.999 0.902122 0.9150 1 Uncertain 16_65025718_G->A 16 65025718 65025718 G A snp 1321.77 0/1 99 116 63 53 0.46 exonic rs35195 CDH11 AU nonsynonymous SNV NM_001797 exon6 c.C764T p.T255M 0.18151 0.2044 0.260111 0.2728 0.2137 0.01 T 1.000 P -0.899 T 0.996 D 0.88 D Pathogenic 16_65025849_A->G 16 65025849 65025849 A G snp 3054.77 1/1 99 103 0 103 1.0 intronic rs35194 CDH11 AU NM_001797 exon8 c.44333+11A>G 0.925919 0.999 0.899892 0.9144 1 Uncertain 16_65032846_G->A 16 65032846 65032846 G A snp 836.77 0/1 99 51 17 34 0.67 intronic rs7190608 CDH11 AU NM_001797 exon10 c.51254+87G>A 0.236422 0.4206 Uncertain 16_66413195_G->A 16 66413195 66413195 G A snp 120.77 0/1 66 6 2 4 0.67 intronic rs7499886 CDH5 AU 0.490815 0.4881 0.464655 0.4662 0.5014 Uncertain 16_66420885_C->T 16 66420885 66420885 C T snp 1685.77 0/1 99 172 103 69 0.4 exonic rs1130844 CDH5 AU synonymous SNV NM_001795 exon3 c.C384T p.G128G 0.622204 0.8175 0.540757 0.5835 0.8029 Uncertain 16_66424235_T->G 16 66424235 66424235 T G snp 652.77 0/1 99 51 26 25 0.49 intronic rs2304527 CDH5 AU NM_001795 exon6 c.11065-70T>G 0.340855 0.3512 Uncertain 16_66432304_ACCACCCC->- 16 66432304 66432311 ACCACCCC - indel 841.73 0/1 99 18 9 9 0.5 intronic rs113303884 CDH5 AU NM_001795 exon10 c.19118-54_19118-47delACCACCCC 0.452676 0.5516 Uncertain 16_66432423_T->C 16 66432423 66432423 T C snp 1161.77 0/1 99 87 36 51 0.59 exonic rs1049970 CDH5 AU nonsynonymous SNV NM_001795 exon10 c.T1550C p.I517T 0.744409 0.8224 0.580295 0.7208 0.8061 0.1 T 1.000 P -0.995 T 0.0 T 0.001 T ID=CM1212658;DIS=Haemorrhagic fever with renal syndrome, reduced severity, association with;TAG=DP;PUB=23248849 DP Pathogenic 16_66432424_C->T 16 66432424 66432424 C T snp 1165.77 0/1 99 87 36 51 0.59 exonic rs3826229 CDH5 AU synonymous SNV NM_001795 exon10 c.C1551T p.I517I 0.415136 0.5506 0.015998 0.3897 0.5217 Uncertain 16_66434571_G->C 16 66434571 66434571 G C snp 319.77 0/1 99 26 13 13 0.5 intronic rs6499082 CDH5 AU NM_001795 exon11 c.21433-102G>C 0.693291 0.8224 Uncertain 16_66436460_G->A 16 66436460 66436460 G A snp 36.77 0/1 31 4 1 3 0.75 intronic rs113672170 CDH5 AU NM_001795 exon12 c.23314-94G>A 0.60004 0.8244 Uncertain 16_66437131_A->T 16 66437131 66437131 A T snp 1285.77 1/1 60 38 1 37 0.97 UTR3 rs1063438 CDH5 AU 0.698283 0.8244 Uncertain 16_66511627_A->G 16 66511627 66511627 A G snp 1014.77 0/1 99 78 34 44 0.56 intronic rs11075636 BEAN1 AD NM_001136106 exon3 c.113+14A>G 0.381589 0.3323 0.277924 0.3145 0.3415 Uncertain 16_66527192_G->A 16 66527192 66527192 G A snp 1266.77 0/1 99 92 41 51 0.55 exonic rs58468753 BEAN1 AD nonsynonymous SNV NM_001197225 exon5 c.G475A p.G159R 0.111422 0.1746 0.0525 0.1633 Pathogenic 16_66545982_C->T 16 66545982 66545982 C T snp 1199.77 0/1 99 94 44 50 0.53 intronic rs16956600 TK2 AR NM_001172645 exon1 c.99+13C>T 0.150759 0.1746 0.122827 0.1146 0.1648 CLINSIG=non-pathogenic;CLNDBN=not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000125521.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Uncertain 16_66584002_T->C 16 66584002 66584002 T C snp 1081.77 0/1 99 133 86 47 0.35 UTR5 rs3743716 TK2 AR 0.325879 0.3006 0.235662 0.2681 0.3824 1 T 0.000 P -0.737 T 0.0 T 0.0 T CLINSIG=non-pathogenic;CLNDBN=not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000125522.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Uncertain 16_66600479_G->A 16 66600479 66600479 G A snp 3080.77 0/1 99 250 133 117 0.47 exonic rs7193473 CMTM1 AU synonymous SNV NM_052999 exon1 c.G63A p.P21P 0.320687 0.3006 0.254345 0.2071 0.3038 Uncertain 16_66603669_-->T 16 66603669 66603669 - T indel 502.73 0/1 99 43 16 27 0.63 intronic rs146083516 CKLF-CMTM1 AU NM_001204098 exon2 c.10502+6549insT 0.0443291 0.1895 Uncertain 16_66604048_CA->- 16 66604048 66604049 CA - indel 2784.73 0/1 99 106 47 59 0.56 intronic rs368945401 CKLF-CMTM1 AU NM_001204098 exon2 c.10502+6928_10502+6929delCA 0.00319489 0.0159 0.0011 0.0137 Uncertain 16_66613525_G->A 16 66613525 66613525 G A snp 1382.77 0/1 99 116 54 62 0.53 exonic rs11553598 CMTM2 AU synonymous SNV NM_001199317 exon1 c.G15A p.A5A 0.14357 0.1895 0.120904 0.1077 0.1747 Uncertain 16_66613841_G->C 16 66613841 66613841 G C snp 1515.77 0/1 99 128 66 62 0.48 intronic rs2290183 CMTM2 AU NM_144673 exon1 c.285+46G>C 0.208267 0.2937 0.136594 0.1745 0.3037 Uncertain 16_66614008_T->C 16 66614008 66614008 T C snp 3515.77 0/1 99 250 115 135 0.54 exonic rs2290182 CMTM2 AU nonsynonymous SNV NM_144673 exon2 c.T365C p.I122T 0.236621 0.3036 0.165052 0.1799 0.3035 0.35 T 0.0 P -1.023 T 0.058 T 0.063 T Pathogenic 16_66646591_C->T 16 66646591 66646591 C T snp 1286.77 0/1 99 117 61 56 0.48 UTR3 rs3743719 CMTM3 AU 0.364417 0.4196 0.383349 0.4282 0.4131 Uncertain 16_66646620_G->A 16 66646620 66646620 G A snp 967.77 0/1 99 69 30 39 0.57 UTR3 rs3743720 CMTM3 AU 0.0858626 0.1627 0.033290 Uncertain 16_66646699_G->A 16 66646699 66646699 G A snp 40.77 0/1 69 5 3 2 0.4 UTR3 rs3743721 CMTM3 AU 0.0856629 0.1617 Uncertain 16_66656102_C->T 16 66656102 66656102 C T snp 1312.77 0/1 99 115 62 53 0.46 exonic rs35837672 CMTM4 AU synonymous SNV NM_178818 exon4 c.G486A p.A162A 0.0846645 0.1627 0.035225 0.0554 0.1595 Uncertain 16_66657471_G->A 16 66657471 66657471 G A snp 2052.77 0/1 99 203 109 94 0.46 intronic rs355949 CMTM4 AU NM_181521 exon2 c.1445+66G>A 0.181709 0.2927 Uncertain 16_66757729_A->- 16 66757729 66757729 A - indel 730.73 1/1 59 56 3 53 0.95 splicing rs398100262 DYNC1LI2 AU NM_006141 exon1 c.101+4delA 0.478235 0.5665 0.4684 0.4971 ID=COSM252992;OCCURENCE=1(ovary) Pathogenic 16_66759682_C->A 16 66759682 66759682 C A snp 1633.77 1/1 99 58 0 58 1.0 intronic rs2305311 DYNC1LI2 AU NM_006141 exon2 c.2106-48C>A 0.546725 0.6508 0.483156 0.4777 0.6261 Uncertain 16_66759976_C->T 16 66759976 66759976 C T snp 371.77 1/1 30 11 0 11 1.0 intronic rs2305310 DYNC1LI2 AU NM_006141 exon2 c.2223+129C>T 0.547324 0.6508 Uncertain 16_66762847_T->C 16 66762847 66762847 T C snp 685.77 1/1 51 20 0 20 1.0 intronic rs12599882 DYNC1LI2 AU NM_006141 exon5 c.5318-95T>C 0.577077 0.6508 Uncertain 16_66769909_-->C 16 66769909 66769909 - C indel 259.77 1/1 21 7 0 7 1.0 intronic rs3833056 DYNC1LI2 AU NM_006141 exon9 c.12353-68insC 0.344449 0.6171 Uncertain 16_66776657_G->A 16 66776657 66776657 G A snp 1897.77 1/1 99 59 0 59 1.0 intronic rs4407052 DYNC1LI2 AU NM_006141 exon10 c.18947+86G>A 0.577276 0.6498 Uncertain 16_66789125_A->G 16 66789125 66789125 A G snp 135.03 1/1 12 4 0 4 1.0 intronic rs11075643 CCDC79 AU NM_001136505 exon1 c.188+59A>G 0.34405 0.6161 Uncertain 16_66792714_T->C 16 66792714 66792714 T C snp 791.77 1/1 57 31 0 31 1.0 exonic rs363156 CCDC79 AU nonsynonymous SNV NM_001136505 exon18 c.A1958G p.Q653R 0.34385 0.6161 0.289969 0.3680 0.5949 1 T 0.0 P -0.923 T 0.0 T 0.0 T Pathogenic 16_66793226_T->C 16 66793226 66793226 T C snp 2721.77 1/1 99 90 0 90 1.0 intronic rs363157 CCDC79 AU NM_001136505 exon3 c.4315+33T>C 0.34385 0.6161 0.289750 0.3802 0.5997 Uncertain 16_66812653_T->A 16 66812653 66812653 T A snp 797.77 1/1 60 22 0 22 1.0 intronic rs363161 CCDC79 AU NM_001136505 exon10 c.23887-112T>A 0.578275 0.6498 Uncertain 16_66812797_C->T 16 66812797 66812797 C T snp 6651.77 1/1 99 250 0 250 1.0 exonic rs363162 CCDC79 AU synonymous SNV NM_001136505 exon10 c.G822A p.T274T 0.578275 0.6498 0.493649 0.5219 0.6206 Uncertain 16_66842794_A->T 16 66842794 66842794 A T snp 99.28 1/1 9 3 0 3 1.0 intronic rs363169 NAE1 AU NM_003905 exon5 c.5980-97A>T 0.58107 0.6498 Uncertain 16_66851224_T->C 16 66851224 66851224 T C snp 1047.77 1/1 75 38 0 38 1.0 intronic rs9889170 NAE1 AU NM_003905 exon12 c.14416-103T>C 0.581669 0.6498 0.5617 0.6650 Uncertain 16_66855647_C->T 16 66855647 66855647 C T snp 48.74 1/1 6 2 0 2 1.0 intronic rs363175 NAE1 AU NM_003905 exon14 c.18551+185C>T 0.345447 0.6141 Uncertain 16_66861470_-->A 16 66861470 66861470 - A indel 75.73 0/1 63 11 4 7 0.64 intronic rs11372346 NAE1 AU NM_001018159 exon20 c.24971-412insA 0.491613 0.5645 0 . Uncertain 16_66861966_G->A 16 66861966 66861966 G A snp 3970.77 1/1 99 150 0 150 1.0 UTR5 rs152164 NAE1 AU 0.347843 0.6151 0.282939 0.3818 0.6015 Uncertain 16_66885652_A->G 16 66885652 66885652 A G snp 3078.77 1/1 99 110 0 110 1.0 intronic rs151460 CA7 AU NM_005182 exon5 c.7239+23A>G 0.624601 0.6438 0.588692 0.5407 0.6193 Uncertain 16_66886500_GAAAAGAAAAG->- 16 66886500 66886510 GAAAAGAAAAG - indel 879.74 1/1 30 10 0 10 1.0 intronic rs199939840 CA7 AU NM_005182 exon6 c.8224-114_8224-104delGAAAAGAAAAG Uncertain 16_66886511_AA->- 16 66886511 66886512 AA - indel 668.73 1/1 59 20 0 20 1.0 intronic CA7 AU NM_005182 exon6 c.8224-103_8224-102delAA Uncertain 16_66886559_G->A 16 66886559 66886559 G A snp 1916.77 1/1 99 63 0 63 1.0 intronic rs152168 CA7 AU NM_005182 exon6 c.8224-55G>A 0.399561 0.6101 Uncertain 16_66920510_A->G 16 66920510 66920510 A G snp 2429.77 0/1 99 208 105 103 0.5 UTR3 rs28398401 PDP2 AU 0.165136 0.2103 Uncertain 16_66942982_C->T 16 66942982 66942982 C T snp 289.77 0/1 99 18 9 9 0.5 intronic rs3785093 CDH16 AU NM_001204744 exon2 c.875-187C>T 0.0213658 0.1022 Uncertain 16_66944482_G->A 16 66944482 66944482 G A snp 189.77 0/1 99 11 5 6 0.55 intronic rs57110251 CDH16 AU NM_001204746 exon4 c.2111+77G>A 0.297923 0.245 Uncertain 16_66946748_G->C 16 66946748 66946748 G C snp 3299.77 0/1 99 250 113 137 0.55 exonic rs77096866 CDH16 AU synonymous SNV NM_001204746 exon9 c.C810G p.G270G 0.0339457 0.1558 0.000846 0.0154 0.1528 Uncertain 16_66947024_T->C 16 66947024 66947024 T C snp 1316.77 0/1 99 118 63 55 0.47 intronic rs60557147 CDH16 AU NM_001204744 exon10 c.4739-9T>C 0.0754792 0.2044 0.029692 0.0618 0.2011 Uncertain 16_66947383_C->G 16 66947383 66947383 C G snp 3523.77 0/1 99 248 109 139 0.56 intronic rs3848284 CDH16 AU NM_001204744 exon11 c.5099-10C>G 0.363419 0.249 0.303923 0.2023 0.2327 Uncertain 16_66948130_G->A 16 66948130 66948130 G A snp 1941.77 0/1 99 218 131 87 0.4 exonic rs2271023 CDH16 AU nonsynonymous SNV NM_001204746 exon6 c.C478T p.H160Y 0.0738818 0.2014 0.029769 0.0588 0.1994 1 T 0.0 P -1.068 T 0.478 P 0.134 P Pathogenic 16_66951783_G->A 16 66951783 66951783 G A snp 151.77 0/1 99 11 5 6 0.55 intronic rs2271025 CDH16 AU NM_001204744 exon17 c.9629-140G>A 0.263179 0.2679 Uncertain 16_66966799_C->T 16 66966799 66966799 C T snp 809.77 0/1 99 81 45 36 0.44 intronic rs3890213 FAM96B AU NM_016062 exon2 c.623+71C>T 0.0738818 0.1905 0.040079 Uncertain 16_66972968_T->C 16 66972968 66972968 T C snp 43.77 0/1 72 5 3 2 0.4 intronic rs2303218 CES2 AU NM_003869 exon3 c.3773-151T>C 0.0603035 0.2242 Uncertain 16_66973381_G->A 16 66973381 66973381 G A snp 99.28 1/1 9 5 2 3 0.6 intronic rs8045523 CES2 AU NM_003869 exon3 c.3915+120G>A 0.373602 0.2698 Uncertain 16_66977094_G->A 16 66977094 66977094 G A snp 480.77 0/1 99 28 13 15 0.54 intronic rs2241409 CES2 AU NM_003869 exon11 c.7855-107G>A 0.327276 0.2698 Uncertain 16_66977997_A->G 16 66977997 66977997 A G snp 269.77 0/1 99 17 8 9 0.53 UTR3 rs8192925 CES2 AU 0.0930511 0.2371 Uncertain 16_67035519_T->C 16 67035519 67035519 T C snp 390.77 0/1 99 18 6 12 0.67 intronic rs11860308 CES4A AU NM_001190201 exon3 c.790+155T>C 0.327077 0.2312 Uncertain 16_67037054_A->C 16 67037054 67037054 A C snp 1431.77 0/1 99 102 39 63 0.62 exonic rs61744399 CES4A AU nonsynonymous SNV NM_001190201 exon4 c.A478C p.S160R 0.334864 0.2312 0.255345 0.1671 0.2193 0.35 T 0.0 P -0.922 T 0.007 T 0.016 T Pathogenic 16_67197776_-->G 16 67197776 67197776 - G indel 885.73 1/1 38 41 2 39 0.95 UTR3 rs397745266 FBXL8 AU 0.948682 0.9702 Uncertain 16_67221050_A->G 16 67221050 67221050 A G snp 4209.77 1/1 99 151 0 151 1.0 intronic rs9924876 EXOC3L1 AU NM_178516 exon9 c.2745+9A>G 0.992412 1 0.982687 0.9840 1 Uncertain 16_67229793_-->CAG 16 67229793 67229793 - CAG indel 1999.73 0/1 99 180 65 115 0.64 exonic rs764449327 E2F4 AU nonframeshift insertion NM_001950 exon7 c.917_918insCAG p.D306delinsDS 0.0301 0.0306 Uncertain 16_67267851_A->G 16 67267851 67267851 A G snp 73.77 0/1 99 45 35 10 0.22 exonic FHOD1 AU synonymous SNV NM_013241 exon13 c.T1755C p.P585P 0.0003 0 Uncertain 16_67324957_T->C 16 67324957 67324957 T C snp 3674.77 1/1 99 127 0 127 1.0 intronic rs27860 KCTD19 AU NM_001100915 exon2 c.1418+68T>C 0.9998 1 Uncertain 16_67472377_CACA->- 16 67472377 67472380 CACA - indel 1106.73 0/1 99 41 20 21 0.51 UTR3 rs145078546 ATP6V0D1 AU Uncertain 16_67681905_G->T 16 67681905 67681905 G T snp 1216.77 0/1 99 151 89 62 0.41 intronic rs117143728 RLTPR AU NM_001013838 exon13 c.2712+44G>T 0.0471246 0.2232 0.000891 0.0219 0.2496 Uncertain 16_67687984_G->- 16 67687984 67687984 G - indel 122.74 1/1 25 9 0 9 1.0 intronic rs548114769 RLTPR AU NM_001013838 exon30 c.8902-67delG Uncertain 16_68025801_G->C 16 68025801 68025801 G C snp 3204.83 1/1 99 109 0 109 1.0 exonic rs255051 DPEP2 AU nonsynonymous SNV NM_022355 exon5 c.C602G p.P201R 1 1 1.0000 1 1 T 1.0 P -0.960 T 0.0 T 0.0 T Pathogenic 16_68057096_T->C 16 68057096 68057096 T C snp 3964.77 1/1 99 144 0 144 1.0 exonic rs237831 DDX28 AU nonsynonymous SNV NM_018380 exon1 c.A10G p.T4A 0.972843 1 0.947035 0.9424 0.9996 1 T 0.0 P -0.949 T 0.0 T 0.0 T Pathogenic 16_68325665_-->GT 16 68325665 68325665 - GT indel 1045.73 ./1 99 67 0 67 1.0 intronic SLC7A6 AU NM_001076785 exon8 c.16935+101insGT Uncertain 16_68325665_-->GTGT 16 68325665 68325665 - GTGT indel 1045.73 ./1 99 67 0 67 1.0 intronic rs10525504 SLC7A6 AU NM_001076785 exon8 c.16935+101insGTGT Uncertain 16_68344696_C->T 16 68344696 68344696 C T snp 3015.77 0/1 99 250 117 133 0.53 exonic rs3803650 SLC7A6OS AU nonsynonymous SNV NM_032178 exon1 c.G134A p.G45D 0.668331 0.7728 0.637427 0.6096 0.7772 0.63 T 0.0 P -0.995 T 0.002 T 0.006 T Pathogenic 16_68344945_G->C 16 68344945 68344945 G C snp 1125.77 0/1 99 90 45 45 0.5 UTR5 rs3743741 PRMT7 AR 0.601438 0.7728 0.5152 0.6993 Uncertain 16_68345036_G->T 16 68345036 68345036 G T snp 74.77 0/1 99 9 6 3 0.33 intronic rs3743742 PRMT7 AR 0.612021 0.7728 0.4921 0.6541 Uncertain 16_68363181_G->A 16 68363181 68363181 G A snp 633.77 0/1 99 53 26 27 0.51 intronic rs1111571 PRMT7 AR NM_019023 exon6 c.13195+104G>A 0.807308 0.8472 Uncertain 16_68373954_C->T 16 68373954 68373954 C T snp 77.78 0/1 24 4 1 3 0.75 intronic rs9928605 PRMT7 AR NM_019023 exon9 c.23989+83C>T 0.60004 0.7728 Uncertain 16_68382447_T->C 16 68382447 68382447 T C snp 542.77 1/1 42 16 0 16 1.0 intronic rs2863975 PRMT7 AR NM_019023 exon14 c.32452+113T>C 0.604633 0.7768 Uncertain 16_68386581_C->T 16 68386581 68386581 C T snp 158.9 1/1 15 5 0 5 1.0 intronic rs3785123 PRMT7 AR NM_019023 exon15 c.36430+269C>T 0.55611 0.7698 Uncertain 16_68387373_C->T 16 68387373 68387373 C T snp 3886.77 1/1 99 140 0 140 1.0 intronic rs1562479 PRMT7 AR NM_019023 exon16 c.37512-21C>T 0.555911 0.7698 0.510391 0.5444 0.7825 Uncertain 16_68387496_A->C 16 68387496 68387496 A C snp 3304.77 1/1 99 114 0 114 1.0 intronic rs1868159 PRMT7 AR NM_019023 exon16 c.37587+27A>C 0.803914 0.8532 0.779624 0.7400 0.8572 Uncertain 16_68389772_C->T 16 68389772 68389772 C T snp 1943.77 1/1 99 70 0 70 1.0 exonic rs1131933 PRMT7 AR synonymous SNV NM_019023 exon17 c.C1797T p.T599T 0.5623 0.7649 0.480219 0.5007 0.7796 Uncertain 16_68391189_C->G 16 68391189 68391189 C G snp 3227.04 1/1 99 113 0 113 1.0 downstream rs7192234 PRMT7 AR 0.803714 0.8522 Uncertain 16_68395094_G->A 16 68395094 68395094 G A snp 1804.77 1/1 99 67 0 67 1.0 UTR3 rs2279539 SMPD3 AU 0.55631 0.7698 0.511162 0.5594 0.7861 Uncertain 16_68395371_G->A 16 68395371 68395371 G A snp 254.77 0/1 99 21 11 10 0.48 intronic rs117968336 SMPD3 AU NM_018667 exon2 c.397-134G>A 0.0217652 0.0992 Uncertain 16_68397530_T->G 16 68397530 68397530 T G snp 565.77 1/1 42 20 0 20 1.0 intronic rs3826167 SMPD3 AU NM_018667 exon3 c.2354+68T>G 0.805112 0.8522 0.772888 Uncertain 16_68397909_A->G 16 68397909 68397909 A G snp 830.77 1/1 63 24 0 24 1.0 intronic rs1465470 SMPD3 AU NM_018667 exon4 c.2661+140A>G 0.804712 0.8522 Uncertain 16_68397916_T->G 16 68397916 68397916 T G snp 808.77 1/1 60 22 0 22 1.0 intronic rs1465469 SMPD3 AU NM_018667 exon4 c.2661+147T>G 0.633586 0.7708 Uncertain 16_68398924_C->T 16 68398924 68398924 C T snp 6401.77 1/1 99 229 0 229 1.0 exonic rs1868158 SMPD3 AU synonymous SNV NM_018667 exon4 c.G1395A p.P465P 0.632388 0.7698 0.603339 0.5964 0.7812 Uncertain 16_68405673_G->A 16 68405673 68405673 G A snp 932.77 0/1 99 80 37 43 0.54 exonic rs145616324 SMPD3 AU nonsynonymous SNV NM_018667 exon3 c.C412T p.L138F 0.00738818 0.0347 0.000077 0.0043 0.0548 0.04 T 0.998 D -0.918 T 0.986 D 0.797 D Pathogenic 16_68573945_C->T 16 68573945 68573945 C T snp 462.77 0/1 99 32 17 15 0.47 intronic rs1182968 ZFP90 AU NM_001305203 exon2 c.33+217C>T 0.773962 0.8135 Uncertain 16_68591156_T->A 16 68591156 68591156 T A snp 658.77 0/1 99 48 21 27 0.56 intronic rs1728784 ZFP90 AU NM_001305203 exon3 c.18205-744T>A 0.820487 0.8125 0.7718 0.8258 Uncertain 16_68591230_A->C 16 68591230 68591230 A C snp 1391.77 0/1 99 101 42 59 0.58 intronic rs1728785 ZFP90 AU NM_001305203 exon3 c.18205-670A>C 0.814696 0.8125 0.7716 0.8284 Uncertain 16_68591350_A->G 16 68591350 68591350 A G snp 402.77 0/1 99 35 18 17 0.49 intronic rs1645929 ZFP90 AU NM_001305203 exon3 c.18205-550A>G 0.612819 0.7996 Uncertain 16_68592332_C->T 16 68592332 68592332 C T snp 1979.77 0/1 99 157 71 86 0.55 intronic rs75130703 ZFP90 AU NM_001305203 exon4 c.18680-43C>T 0.0710863 0.1558 0.032169 0.0774 0.1588 Uncertain 16_68598007_A->G 16 68598007 68598007 A G snp 3180.76 0/1 99 250 126 124 0.5 exonic rs1177648 ZFP90 AU synonymous SNV NM_133458 exon5 c.A1317G p.Q439Q 0.528754 0.7659 0.487555 0.5975 0.7584 Uncertain 16_68679770_G->A 16 68679770 68679770 G A snp 290.77 0/1 99 21 6 15 0.71 intronic rs2236393 CDH3 AR NM_001793 exon2 c.371+117G>A 0.491414 0.7331 Uncertain 16_68710165_T->C 16 68710165 68710165 T C snp 648.77 1/1 48 20 0 20 1.0 intronic rs3118229 CDH3 AR NM_001793 exon3 c.31005-122T>C 0.858227 0.7748 Uncertain 16_68711999_A->G 16 68711999 68711999 A G snp 2962.77 1/1 99 103 0 103 1.0 intronic rs1952048 CDH3 AR NM_001793 exon4 c.32754-37A>G 0.454473 0.6121 0.434672 0.4560 0.6110 Uncertain 16_68712217_T->C 16 68712217 68712217 T C snp 1694.77 1/1 99 55 0 55 1.0 intronic rs2296410 CDH3 AR NM_001793 exon4 c.32898+37T>C 0.826478 0.7728 0.887119 0.8413 0.7668 Uncertain 16_68713730_G->A 16 68713730 68713730 G A snp 3365.77 1/1 99 139 0 139 1.0 exonic rs2296409 CDH3 AR synonymous SNV NM_001793 exon7 c.G720A p.T240T 0.607827 0.6141 0.640197 0.5940 0.6134 Uncertain 16_68713823_C->A 16 68713823 68713823 C A snp 4036.77 1/1 99 151 0 151 1.0 exonic rs2296408 CDH3 AR synonymous SNV NM_001793 exon7 c.C813A p.T271T 0.607827 0.6141 0.640274 0.5940 0.6132 Uncertain 16_68716066_G->A 16 68716066 68716066 G A snp 423.77 1/1 33 12 0 12 1.0 intronic rs1886698 CDH3 AR NM_001793 exon9 c.36922-138G>A 0.309704 0.5129 Uncertain 16_68716179_T->C 16 68716179 68716179 T C snp 3034.77 1/1 99 109 0 109 1.0 intronic rs1886697 CDH3 AR NM_001793 exon9 c.36922-25T>C 0.596446 0.5546 0.630117 0.6007 0.5664 Uncertain 16_68718367_T->C 16 68718367 68718367 T C snp 1694.77 1/1 99 53 0 53 1.0 intronic rs4783661 CDH3 AR NM_001793 exon10 c.39203-118T>C 0.402356 0.5546 Uncertain 16_68718750_A->G 16 68718750 68718750 A G snp 2778.77 1/1 99 96 0 96 1.0 intronic rs2281850 CDH3 AR NM_001793 exon10 c.39445+23A>G 0.598043 0.5536 0.636196 0.5884 0.5509 Uncertain 16_68721340_G->A 16 68721340 68721340 G A snp 1492.77 1/1 99 43 0 43 1.0 intronic rs2296406 CDH3 AR NM_001793 exon12 c.42132-74G>A 0.597244 0.5536 Uncertain 16_68721470_T->C 16 68721470 68721470 T C snp 5953.77 1/1 99 219 0 219 1.0 exonic rs2296405 CDH3 AR synonymous SNV NM_001793 exon12 c.T1626C p.N542N 0.597444 0.5536 0.636042 0.5881 0.5506 Uncertain 16_68721533_G->C 16 68721533 68721533 G C snp 5560.77 1/1 99 198 0 198 1.0 exonic rs1126933 CDH3 AR nonsynonymous SNV NM_001793 exon12 c.G1689C p.Q563H 0.309904 0.5139 0.306710 0.3658 0.4965 0.43 T 0.949 P -0.919 T 0.029 T 0.008 T Pathogenic 16_68725486_A->G 16 68725486 68725486 A G snp 99.28 1/1 9 3 0 3 1.0 intronic rs2274240 CDH3 AR NM_001793 exon13 c.46340-136A>G 0.592452 0.5506 Uncertain 16_68725783_G->A 16 68725783 68725783 G A snp 1735.77 1/1 99 64 0 64 1.0 exonic rs2274239 CDH3 AR synonymous SNV NM_001793 exon13 c.G1956A p.K652K 0.574481 0.4732 0.625423 0.5786 0.4981 Uncertain 16_68728976_C->A 16 68728976 68728976 C A snp 94.28 1/1 9 3 0 3 1.0 intronic rs3785135 CDH3 AR NM_001793 exon14 c.49875-181C>A 0.531749 0.4732 Uncertain 16_68729112_A->G 16 68729112 68729112 A G snp 4476.77 1/1 99 164 0 164 1.0 intronic rs8060790 CDH3 AR NM_001793 exon14 c.49875-45A>G 0.538938 0.4772 0.585719 0.5658 0.4986 Uncertain 16_68729785_C->A 16 68729785 68729785 C A snp 7122.77 1/1 99 250 0 250 1.0 exonic rs17715450 CDH3 AR synonymous SNV NM_001793 exon15 c.C2239A p.R747R 0.466853 0.4732 0.501385 0.5330 0.4978 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000079721.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 16_68771372_C->T 16 68771372 68771372 C T snp 1075.77 1/1 78 40 0 40 1.0 splicing rs3743674 CDH1 AU,AD NM_004360 exon1 c.48+6C>T 0.763379 0.7688 0.860326 0.8111 0.7274 CLINSIG=non-pathogenic;CLNDBN=Hereditary_cancer-predisposing_syndrome;CLNREVSTAT=criteria_provided\x2c_multiple_submitters\x2c_no_conflicts;CLNACC=RCV000132163.2;CLNDSDB=MedGen:SNOMED_CT;CLNDSDBID=C0027672:699346009 Pathogenic 16_68771418_-->GCCCCAGCCCCGT 16 68771418 68771418 - GCCCCAGCCCCGT indel 5099.73 1/1 99 38 0 38 1.0 intronic rs147838237 CDH1 AU,AD NM_004360 exon1 c.48+52insGCCCCAGCCCCGT 0.688698 0.745 0.806959 0.8100 0.7360 Uncertain 16_68771547_G->C 16 68771547 68771547 G C snp 256.8 1/1 21 7 0 7 1.0 intronic rs3743675 CDH1 AU,AD NM_004360 exon1 c.48+181G>C 0.76258 0.7698 Uncertain 16_68857441_T->C 16 68857441 68857441 T C snp 2752.77 1/1 99 106 0 106 1.0 exonic rs1801552 CDH1 AU,AD synonymous SNV NM_004360 exon13 c.T2076C p.A692A 0.71865 0.6448 0.716143 0.6548 0.6399 CLINSIG=non-pathogenic;CLNDBN=Hereditary_cancer-predisposing_syndrome;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000132164.2;CLNDSDB=MedGen:SNOMED_CT;CLNDSDBID=C0027672:699346009 ID=COSM3755010;OCCURENCE=1(large_intestine) Uncertain 16_68901073_G->C 16 68901073 68901073 G C snp 644.77 0/1 99 51 24 27 0.53 exonic TANGO6 AU nonsynonymous SNV NM_024562 exon4 c.G944C p.R315T 0.01 T 0.900 N -0.628 T 0.799 T 0.395 P Pathogenic 16_68912213_GC->- 16 68912213 68912214 GC - indel 2075.73 0/1 99 162 110 52 0.32 intronic rs144221311 TANGO6 AU NM_024562 exon6 c.34663+30_34663+31delGC 0.00379393 0.0179 0.0014 0.0184 Uncertain 16_69008037_C->T 16 69008037 69008037 C T snp 1273.77 0/1 99 119 63 56 0.47 exonic rs3743678 TANGO6 AU synonymous SNV NM_024562 exon15 c.C2808T p.V936V 0.123403 0.3512 0.003325 0.0710 0.3289 Uncertain 16_69143577_A->G 16 69143577 69143577 A G snp 5748.77 1/1 99 183 0 183 1.0 exonic rs2232228 HAS3 AU synonymous SNV NM_001199280 exon2 c.A279G p.A93A 0.342252 0.5149 0.326408 0.3962 0.4787 Uncertain 16_69293939_C->T 16 69293939 69293939 C T snp 87.77 0/1 99 94 82 12 0.13 intronic rs756421435 SNTB2 AU NM_006750 exon3 c.72883-13C>T 0.0066 0.0028 Uncertain 16_69349817_G->A 16 69349817 69349817 G A snp 134.77 0/1 99 15 10 5 0.33 intronic rs117150054 VPS4A AU NM_013245 exon2 c.4496-93G>A 0.0155751 0.0764 Uncertain 16_69458591_C->T 16 69458591 69458591 C T snp 2887.77 0/1 99 249 117 132 0.53 exonic rs117949766 CYB5B AU nonsynonymous SNV NM_030579 exon1 c.C5T p.S2F 0.0165735 0.0813 0.000080 0.0045 0.0552 0 D 1 N -0.725 T Pathogenic 16_69599495_G->C 16 69599495 69599495 G C snp 106.28 1/1 9 7 0 7 1.0 upstream;downstream rs2287970 NFAT5;MIR1538 UN 0.352236 0.4236 Uncertain 16_69704122_-->TG 16 69704122 69704122 - TG indel 2841.73 1/1 99 57 0 57 1.0 intronic rs3217434 NFAT5 AU NM_006599 exon8 c.103934-16insTG 0.76857 0.8641 0.702312 0.6512 0.9044 Uncertain 16_69704205_T->- 16 69704205 69704205 T - indel 913.73 1/1 81 28 0 28 1.0 intronic rs3217435 NFAT5 AU NM_006599 exon8 c.103987+14delT 0.629792 0.7867 0.546343 0.5316 0.8383 Uncertain 16_69711311_A->T 16 69711311 69711311 A T snp 644.77 1/1 48 21 0 21 1.0 intronic rs3743673 NFAT5 AU NM_006599 exon9 c.111034+73A>T 0.291733 0.4196 Uncertain 16_69745145_G->A 16 69745145 69745145 G A snp 1202.77 1/1 87 41 0 41 1.0 exonic rs1800566 NQO1 AU nonsynonymous SNV NM_000903 exon6 c.C559T p.P187S 0.288938 0.4187 0.197368 0.2452 0.4502 0.11 T 1.000 P -0.903 T 1.0 D 0.999 D CLINSIG=other|other|pathogenic;CLNDBN=Benzene_toxicity\x2c_susceptibility_to|Leukemia\x2c_post-chemotherapy\x2c_susceptibility_to|Breast_cancer\x2c_post-chemotherapy_poor_survival_in;CLNREVSTAT=no_assertion_criteria_provided|no_assertion_criteria_provided|no_assertion_criteria_provided;CLNACC=RCV000018300.1|RCV000018301.1|RCV000018302.22;CLNDSDB=MedGen|MedGen|.;CLNDSDBID=C2675718|C2675719|. ID=CM950861;DIS=Lung cancer, smoking induced, association with;TAG=DFP;PUB=8528266 DFP Pathogenic 16_69752464_C->G 16 69752464 69752464 C G snp 582.77 1/1 45 19 0 19 1.0 intronic rs689452 NQO1 AU NM_001025434 exon4 c.7559+27C>G 0.834465 0.6508 0.870960 0.8597 0.6286 Uncertain 16_69791266_T->G 16 69791266 69791266 T G snp 484.77 1/1 39 13 0 13 1.0 intergenic rs3811349 NOB1 AU 0.366813 0.379 Uncertain 16_69832912_T->G 16 69832912 69832912 T G snp 139.03 1/1 12 4 0 4 1.0 intronic rs8063219 WWP2 AU NM_007014 exon5 c.12163-164T>G 0.51857 0.4653 Uncertain 16_69861573_A->T 16 69861573 69861573 A T snp 96.28 1/1 9 3 0 3 1.0 intronic rs2937125 WWP2 AU NM_007014 exon6 c.53115-12455A>T 0.866214 0.6627 Uncertain 16_69873992_T->G 16 69873992 69873992 T G snp 2193.77 1/1 99 80 0 80 1.0 intronic rs2291959 WWP2 AU NM_007014 exon6 c.53115-36T>G 0.757188 0.8442 0.684211 0.6451 0.8830 Uncertain 16_69876164_A->G 16 69876164 69876164 A G snp 411.77 1/1 30 17 0 17 1.0 intronic rs9940315 WWP2 AU NM_007014 exon7 c.55110+141A>G 0.757188 0.8442 Uncertain 16_69905668_G->C 16 69905668 69905668 G C snp 3745.77 1/1 99 141 0 141 1.0 intronic rs1000640 WWP2 AU NM_007014 exon8 c.84793-38G>C 0.113618 0.1577 0.077853 0.1061 0.1511 Uncertain 16_69942609_G->- 16 69942609 69942609 G - indel 8889.73 1/1 99 228 0 228 1.0 intronic rs5817677 WWP2 AU NM_007014 exon10 c.121750-54delG 0.813698 0.9643 Uncertain 16_69951847_-->CT 16 69951847 69951847 - CT indel 1047.73 1/1 63 21 0 21 1.0 intronic rs3215101 WWP2 AU NM_007014 exon11 c.130873+61insCT 0.726438 0.9643 Uncertain 16_69959223_G->A 16 69959223 69959223 G A snp 3450.77 1/1 99 128 0 128 1.0 intronic rs2270838 WWP2 AU NM_007014 exon12 c.138419-109G>A 0.496406 0.4643 Uncertain 16_69963355_G->A 16 69963355 69963355 G A snp 3238.77 1/1 99 122 0 122 1.0 exonic rs1566452 WWP2 AU synonymous SNV NM_007014 exon13 c.G1239A p.K413K 0.855032 0.9683 0.793244 0.7777 0.9696 Uncertain 16_69965024_A->T 16 69965024 69965024 A T snp 5040.77 1/1 99 189 0 189 1.0 intronic rs2270840 WWP2 AU NM_199424 exon4 c.1021-30A>T 0.860024 0.9683 0.799169 0.7796 0.9694 Uncertain 16_69965281_T->G 16 69965281 69965281 T G snp 1381.77 1/1 99 47 0 47 1.0 intronic rs8052727 WWP2 AU NM_199424 exon5 c.1378-130T>G 0.855831 0.9683 Uncertain 16_69965592_A->G 16 69965592 69965592 A G snp 3952.77 1/1 99 126 0 126 1.0 intronic rs2291961 WWP2 AU NM_199424 exon5 c.1450+109A>G 0.859425 0.9683 Uncertain 16_69967093_G->A 16 69967093 69967093 G A snp 675.77 1/1 51 22 0 22 1.0 intronic rs2102066 WWP2 AU NM_199424 exon7 c.3839-779G>A 0.845048 0.9683 0.791822 0.7888 0.9692 Uncertain 16_69967732_G->A 16 69967732 69967732 G A snp 472.77 1/1 36 12 0 12 1.0 intronic rs8047818 WWP2 AU NM_199424 exon7 c.3839-140G>A 0.818091 0.9683 Uncertain 16_69967897_T->C 16 69967897 69967897 T C snp 3170.77 1/1 99 120 0 120 1.0 exonic rs2270841 WWP2 AU synonymous SNV NM_007014 exon18 c.T1707C p.H569H 0.854633 0.9683 0.794167 0.7761 0.9694 Uncertain 16_69970000_T->G 16 69970000 69970000 T G snp 2107.77 1/1 99 61 0 61 1.0 intronic rs2270842 WWP2 AU NM_199424 exon8 c.5856+111T>G 0.860224 0.9663 Uncertain 16_69970329_A->G 16 69970329 69970329 A G snp 3729.77 1/1 99 130 0 130 1.0 exonic rs1983016 WWP2 AU synonymous SNV NM_007014 exon20 c.A2091G p.T697T 0.845447 0.9663 0.784780 0.7753 0.9684 Uncertain 16_69973297_C->T 16 69973297 69973297 C T snp 2043.77 0/1 99 151 67 84 0.56 exonic rs2270844 WWP2 AU synonymous SNV NM_007014 exon24 c.C2494T p.L832L 0.086262 0.2639 0.045552 0.0696 0.3024 Uncertain 16_69973623_C->- 16 69973623 69973623 C - indel 4021.73 1/1 99 92 0 92 1.0 intronic rs10712484 WWP2 AU NM_199424 exon14 c.9710-120delC 0.848842 0.9673 Uncertain 16_69973655_C->G 16 69973655 69973655 C G snp 6152.77 1/1 99 208 0 208 1.0 intronic rs4985461 WWP2 AU NM_199424 exon14 c.9710-88C>G 0.757388 0.9673 Uncertain 16_69973825_G->A 16 69973825 69973825 G A snp 6779.77 1/1 99 234 1 233 1.0 exonic rs3748389 WWP2 AU synonymous SNV NM_007014 exon25 c.G2595A p.E865E 0.528355 0.8819 0.359957 0.4298 0.8865 Uncertain 16_69988373_T->C 16 69988373 69988373 T C snp 3547.77 1/1 99 137 0 137 1.0 exonic rs2549097 CLEC18A AU nonsynonymous SNV NM_001136214 exon4 c.T353C p.V118A 0.858027 0.9702 0.730721 0.6872 0.9681 0.0 P -1.071 T 0.0 T 0.001 T Pathogenic 16_69988472_C->T 16 69988472 69988472 C T snp 902.77 0/1 99 93 54 39 0.42 exonic rs75776403 CLEC18A AU nonsynonymous SNV NM_001136214 exon4 c.C452T p.T151M 0.317891 0.4901 0.2690 0.4617 0.997 P -0.942 T 0.999 D 0.861 D Pathogenic 16_70064261_C->T 16 70064261 70064261 C T snp 637.77 0/1 99 89 58 31 0.35 ncRNA_exonic rs57629257 MIR1972-1 AU 0.204872 0.3998 1 . Uncertain 16_70099593_T->C 16 70099593 70099593 T C snp 188.9 1/1 15 8 0 8 1.0 ncRNA_intronic rs889377 PDXDC2P AU 0.873203 0.9702 Uncertain 16_70161263_T->C 16 70161263 70161263 T C snp 812.77 0/1 99 132 83 49 0.37 exonic rs2549532 PDPR AU nonsynonymous SNV NM_017990 exon4 c.T328C p.Y110H 0.4312 0.3250 0.16 T 1.000 P -0.928 T 0.0 T 0.0 T Pathogenic 16_70162582_C->- 16 70162582 70162582 C - indel 502.73 0/1 99 37 21 16 0.43 intronic rs398029845 PDPR AU NM_017990 exon5 c.8291-104delC 0.19988 0.2649 Uncertain 16_70165439_C->T 16 70165439 70165439 C T snp 234.77 0/1 99 12 4 8 0.67 intronic rs62050965 PDPR AU NM_017990 exon8 c.10927+117C>T Uncertain 16_70170004_C->A 16 70170004 70170004 C A snp 336.78 1/1 27 11 0 11 1.0 intronic rs8045700 PDPR AU NM_017990 exon10 c.15701-92C>A 0.611621 0.7312 Uncertain 16_70170016_A->G 16 70170016 70170016 A G snp 454.77 1/1 36 14 0 14 1.0 intronic rs8045569 PDPR AU NM_017990 exon10 c.15701-80A>G 0.599441 0.7262 Uncertain 16_70177577_G->A 16 70177577 70177577 G A snp 1030.77 0/1 99 123 63 60 0.49 intronic rs2303198 PDPR AU NM_017990 exon14 c.23166+16G>A 0.2809 0.2583 Uncertain 16_70177618_G->A 16 70177618 70177618 G A snp 633.77 0/1 99 75 37 38 0.51 intronic rs7191901 PDPR AU NM_017990 exon14 c.23166+57G>A Uncertain 16_70177648_G->A 16 70177648 70177648 G A snp 1022.77 1/1 75 39 0 39 1.0 intronic rs2303200 PDPR AU NM_017990 exon14 c.23166+87G>A Uncertain 16_70180088_A->T 16 70180088 70180088 A T snp 2780.77 0/1 99 250 139 111 0.44 exonic rs2287978 PDPR AU nonsynonymous SNV NM_017990 exon16 c.A1919T p.Y640F 0.111621 0.1865 0.088707 0.1247 0.1850 0.04 T 1.0 P -0.649 T 0.994 D 0.91 D Pathogenic 16_70181537_C->T 16 70181537 70181537 C T snp 515.77 0/1 99 87 55 32 0.37 intronic rs62050974 PDPR AU NM_017990 exon17 c.27971-829C>T 0.3965 0.3534 Uncertain 16_70182325_T->C 16 70182325 70182325 T C snp 523.77 0/1 99 89 59 30 0.34 intronic rs55843501 PDPR AU NM_017990 exon17 c.27971-41T>C 0.4047 0.2987 Uncertain 16_70182524_A->C 16 70182524 70182524 A C snp 510.77 0/1 99 32 15 17 0.53 intronic rs117331744 PDPR AU NM_017990 exon17 c.28061+68A>C 0.0329473 0.1637 Uncertain 16_70187164_G->A 16 70187164 70187164 G A snp 629.77 0/1 99 31 8 23 0.74 intronic rs2287979 PDPR AU NM_017990 exon18 c.32898-129G>A 0.480831 0.4365 Uncertain 16_70211199_T->C 16 70211199 70211199 T C snp 286.77 0/1 99 88 66 22 0.25 exonic rs62052576 CLEC18C AU nonsynonymous SNV NM_173619 exon3 c.T272C p.I91T 0.0004 0.0009 0.65 T 1 N -0.912 T 0.0 T 0.0 T Pathogenic 16_70211226_T->C 16 70211226 70211226 T C snp 442.77 0/1 99 119 90 29 0.24 exonic rs62052577 CLEC18C AU nonsynonymous SNV NM_173619 exon3 c.T299C p.L100P 0.0880 0.0765 0.38 T 0.0 P -0.970 T 0.0 T 0.0 T Pathogenic 16_70211290_T->C 16 70211290 70211290 T C snp 623.77 0/1 99 156 110 46 0.29 exonic rs2549610 CLEC18C AU synonymous SNV NM_173619 exon3 c.T363C p.V121V 0.3139 0.2820 0.51 T 1.000 N -0.999 T Likely benign 16_70211370_C->G 16 70211370 70211370 C G snp 374.77 0/1 99 95 68 27 0.28 exonic rs3869428 CLEC18C AU nonsynonymous SNV NM_173619 exon3 c.C443G p.T148S 0.0002 0 0.08 T 1.000 N -0.996 T 0.003 T 0.008 T ID=COSM288429;OCCURENCE=1(large_intestine) Pathogenic 16_70211380_G->A 16 70211380 70211380 G A snp 364.77 0/1 99 84 59 25 0.3 exonic rs3869429 CLEC18C AU synonymous SNV NM_173619 exon3 c.G453A p.T151T 0.0002 0 Uncertain 16_70211441_T->G 16 70211441 70211441 T G snp 70.77 0/1 99 26 19 7 0.27 intronic rs201712618 CLEC18C AU NM_173619 exon3 c.3202+58T>G Uncertain 16_70219777_A->C 16 70219777 70219777 A C snp 947.77 1/1 78 59 0 59 1.0 intronic rs775005118 CLEC18C AU NM_173619 exon11 c.11606-10A>C 0.2526 0.6148 Uncertain 16_70285901_A->G 16 70285901 70285901 A G snp 263.77 0/1 99 16 7 9 0.56 upstream;downstream rs4985407 EXOSC6;AARS UN 0.54393 0.4256 Uncertain 16_70287177_A->G 16 70287177 70287177 A G snp 7705.77 1/1 99 250 0 250 1.0 exonic rs4081753 AARS AR,AD synonymous SNV NM_001605 exon20 c.T2715C p.V905V 0.88119 0.9663 0.849184 0.8241 0.9698 Uncertain 16_70303580_G->A 16 70303580 70303580 G A snp 1959.77 0/1 99 172 83 89 0.52 exonic rs2070203 AARS AR,AD synonymous SNV NM_001605 exon7 c.C903T p.H301H 0.425319 0.4256 0.490766 0.4659 0.4142 ID=CM995271;DIS=Altered mRNA folding;TAG=FP;PUB=10393914 FP Uncertain 16_70316467_G->T 16 70316467 70316467 G T snp 202.77 0/1 99 14 5 9 0.64 intronic AARS AR,AD NM_001605 exon20 c.29899-55G>T Uncertain 16_70384688_TTAAAA->- 16 70384688 70384693 TTAAAA - indel 695.73 0/1 99 27 12 15 0.56 intronic rs66588480 DDX19A AU NM_018332 exon2 c.3614+180_3614+185delTTAAAA 0.227636 0.3046 Uncertain 16_70395387_C->T 16 70395387 70395387 C T snp 1975.77 0/1 99 157 71 86 0.55 exonic rs1134074 DDX19A AU synonymous SNV NM_018332 exon5 c.C360T p.N120N 0.225639 0.3036 0.280163 0.3286 0.3059 Uncertain 16_70400857_A->G 16 70400857 70400857 A G snp 155.77 0/1 59 8 2 6 0.75 intronic rs8058224 DDX19A AU NM_018332 exon9 c.19870+93A>G 0.535743 0.4345 Uncertain 16_70422231_C->T 16 70422231 70422231 C T snp 410.77 0/1 99 29 13 16 0.55 intronic rs4985526 ST3GAL2 AU NM_006927 exon4 c.6678-38C>T 0.226238 0.3006 0.280702 0.3286 0.3060 Uncertain 16_70502610_C->G 16 70502610 70502610 C G snp 606.77 0/1 99 41 17 24 0.59 intronic rs12446395 FUK AU NM_145059 exon9 c.5658-141C>G 0.600439 0.63 Uncertain 16_70506907_T->C 16 70506907 70506907 T C snp 988.77 0/1 99 103 55 48 0.47 exonic rs7192865 FUK AU synonymous SNV NM_145059 exon15 c.T1428C p.P476P 0.578075 0.6607 0.572274 0.5579 0.6777 Uncertain 16_70513384_C->G 16 70513384 70513384 C G snp 769.77 0/1 99 59 32 27 0.46 intronic rs11075764 FUK AU NM_145059 exon23 c.16213+78C>G 0.26877 0.3343 Uncertain 16_70514828_A->C 16 70514828 70514828 A C snp 127.78 0/1 27 6 1 5 0.83 UTR3 rs7919 COG4 AR 0.41853 0.4216 Uncertain 16_70515355_C->T 16 70515355 70515355 C T snp 1372.77 0/1 99 148 85 63 0.43 exonic rs11054 COG4 AR synonymous SNV NM_015386 exon18 c.G2142A p.S714S 0.373802 0.2222 0.484072 0.4207 0.2096 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000116788.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 16_70515600_T->G 16 70515600 70515600 T G snp 3312.77 1/1 99 110 0 110 1.0 intronic rs6416698 COG4 AR NM_001195139 exon3 c.754-66T>G 0.620208 0.5129 Uncertain 16_70516109_G->A 16 70516109 70516109 G A snp 1452.77 0/1 99 136 75 61 0.45 intronic rs12447090 COG4 AR NM_001195139 exon4 c.1166+31G>A 0.285743 0.4058 0.348954 0.4108 0.3998 Uncertain 16_70530359_A->G 16 70530359 70530359 A G snp 766.77 0/1 99 55 28 27 0.49 intronic rs2303793 COG4 AR NM_001195139 exon7 c.15422+25A>G 0.566693 0.5823 0.472299 0.4786 0.5872 Uncertain 16_70531366_C->T 16 70531366 70531366 C T snp 80.77 0/1 30 5 1 4 0.8 intronic rs2303792 COG4 AR NM_001195139 exon8 c.16378+76C>T 0.440096 0.5823 Uncertain 16_70531754_T->G 16 70531754 70531754 T G snp 880.77 0/1 99 38 10 28 0.74 intronic rs2303791 COG4 AR NM_001195139 exon9 c.16927-85T>G Uncertain 16_70546234_G->A 16 70546234 70546234 G A snp 1076.77 0/1 99 106 55 51 0.48 exonic rs3762171 COG4 AR synonymous SNV NM_015386 exon5 c.C646T p.L216L 0.470248 0.5813 0.381810 0.4511 0.5880 Uncertain 16_70548297_G->A 16 70548297 70548297 G A snp 2204.77 1/1 99 72 0 72 1.0 exonic rs3931036 COG4 AR nonsynonymous SNV NM_015386 exon4 c.C485T p.T162I 0.959465 1 0.955602 0.9474 0.9998 1 T 0.002 P -0.948 T 0.0 T 0.0 T Pathogenic 16_70553382_G->C 16 70553382 70553382 G C snp 115.77 0/1 99 11 5 6 0.55 intronic rs7204583 COG4 AR NM_001195139 exon17 c.38639-169G>C 0.659545 0.5833 Uncertain 16_70560361_G->A 16 70560361 70560361 G A snp 73.77 0/1 99 12 7 5 0.42 intronic rs8051506 SF3B3 AU 0.471046 0.5813 Uncertain 16_70569215_A->T 16 70569215 70569215 A T snp 1160.77 0/1 99 103 56 47 0.46 exonic rs33910368 SF3B3 AU synonymous SNV NM_012426 exon6 c.A717T p.P239P 0.470248 0.5804 0.378886 0.4496 0.5837 Uncertain 16_70575852_A->T 16 70575852 70575852 A T snp 609.77 0/1 99 39 18 21 0.54 intronic rs11645437 SF3B3 AU NM_012426 exon9 c.15178+115A>T 0.470647 0.5823 Uncertain 16_70601254_G->A 16 70601254 70601254 G A snp 546.77 0/1 99 33 12 21 0.64 intronic rs7197262 SF3B3 AU NM_012426 exon21 c.40754-59G>A 0.471446 0.5813 Uncertain 16_70602221_C->T 16 70602221 70602221 C T snp 1982.77 0/1 99 168 82 86 0.51 exonic rs12909 SF3B3 AU synonymous SNV NM_012426 exon22 c.C2988T p.I996I 0.506789 0.5804 0.413127 0.4595 0.5834 Uncertain 16_70603220_T->C 16 70603220 70603220 T C snp 124.77 0/1 99 10 4 6 0.6 intronic rs4985534 SF3B3 AU NM_012426 exon23 c.42485+176T>C 0.71905 0.7222 Uncertain 16_70680744_G->C 16 70680744 70680744 G C snp 227.77 0/1 99 14 6 8 0.57 UTR5 rs3813904 IL34 AU 0.601637 0.4613 Uncertain 16_70690989_G->C 16 70690989 70690989 G C snp 969.77 0/1 99 66 24 42 0.64 exonic rs8046424 IL34 AU nonsynonymous SNV NM_152456 exon5 c.G367C p.E123Q 0.715056 0.6687 0.627655 0.5764 0.6644 0.9 T 0.0 P -0.976 T 0.0 T 0.0 T Pathogenic 16_70693872_-->T 16 70693872 70693872 - T indel 286.73 0/1 99 58 35 23 0.4 intronic rs3214847 IL34 AU NM_152456 exon7 c.13049-27insT 0.415335 0.4603 0.3201 0.4217 Uncertain 16_70713654_G->C 16 70713654 70713654 G C snp 2174.77 0/1 99 180 82 98 0.54 intronic rs76602679 MTSS1L AU NM_138383 exon11 c.16109-34G>C 0.128994 0.2778 0.056573 0.1287 0.3198 Uncertain 16_70778139_G->A 16 70778139 70778139 G A snp 50.74 1/1 6 2 0 2 1.0 intronic rs76242843 VAC14 AR NM_018052 exon7 c.56495-186G>A 0.0165735 0.0694 Uncertain 16_70796515_G->A 16 70796515 70796515 G A snp 1775.77 0/1 99 151 69 82 0.54 ncRNA_intronic rs2305689 VAC14-AS1 AU 0.596046 0.5188 0.602647 0.6497 0.5422 Uncertain 16_70796535_C->T 16 70796535 70796535 C T snp 1640.77 0/1 99 140 62 78 0.56 ncRNA_intronic rs2305690 VAC14-AS1 AU 0.587061 0.5169 0.589797 0.6411 0.5357 Uncertain 16_70815027_G->A 16 70815027 70815027 G A snp 44.74 1/1 6 2 0 2 1.0 intronic rs4985366 VAC14 AR NM_018052 exon11 c.93012+185G>A 0.203075 0.2192 Uncertain 16_70816893_C->T 16 70816893 70816893 C T snp 796.77 0/1 99 48 17 31 0.65 intronic rs1875941 VAC14 AR NM_018052 exon13 c.95105-42C>T 0.813498 0.6468 0.864757 0.8202 0.6759 Uncertain 16_70863806_T->C 16 70863806 70863806 T C snp 81.77 0/1 99 43 31 12 0.28 intronic rs1770438 HYDIN AR NM_001270974 exon6 c.22251+73T>C Uncertain 16_70883570_C->T 16 70883570 70883570 C T snp 987.77 0/1 99 66 31 35 0.53 intronic rs1798311 HYDIN AR NM_001270974 exon12 c.42146-58C>T Uncertain 16_70884224_C->G 16 70884224 70884224 C G snp 361.77 0/1 99 25 13 12 0.48 intronic rs1774533 HYDIN AR NM_001270974 exon13 c.42868-126C>G 0.0545128 Uncertain 16_70884524_C->G 16 70884524 70884524 C G snp 1507.77 0/1 99 170 108 62 0.36 exonic rs1798314 HYDIN AR nonsynonymous SNV NM_001270974 exon74 c.G12478C p.E4160Q 0.48 T 1 D -0.814 T 0.986 D 0.959 D Pathogenic 16_70884534_T->A 16 70884534 70884534 T A snp 1330.77 0/1 99 151 95 56 0.37 exonic rs1798315 HYDIN AR synonymous SNV NM_001270974 exon74 c.A12468T p.T4156T Uncertain 16_70884647_C->T 16 70884647 70884647 C T snp 183.77 0/1 99 13 7 6 0.46 intronic rs1774532 HYDIN AR NM_001270974 exon13 c.43076+89C>T Uncertain 16_70888916_G->C 16 70888916 70888916 G C snp 331.77 0/1 99 25 13 12 0.48 intronic rs1006062 HYDIN AR NM_001270974 exon14 c.47548-114G>C Uncertain 16_70889147_A->G 16 70889147 70889147 A G snp 2420.77 0/1 99 189 87 102 0.54 exonic rs2502698 HYDIN AR synonymous SNV NM_001270974 exon73 c.T12327C p.I4109I Uncertain 16_70891482_G->A 16 70891482 70891482 G A snp 760.77 0/1 99 33 9 24 0.73 intronic rs1774415 HYDIN AR NM_001270974 exon15 c.50125-125G>A Uncertain 16_70891640_T->C 16 70891640 70891640 T C snp 1084.77 0/1 99 250 194 56 0.22 exonic rs1774416 HYDIN AR nonsynonymous SNV NM_001270974 exon72 c.A12263G p.K4088R 0.67 T 1.000 D -0.868 T 0.005 T 0.005 T Pathogenic 16_70891778_C->G 16 70891778 70891778 C G snp 2655.77 0/1 99 248 139 109 0.44 splicing rs1774417 HYDIN AR NM_001270974 exon15 c.50291+5C>G Pathogenic 16_70891939_T->C 16 70891939 70891939 T C snp 268.77 0/1 99 12 4 8 0.67 intronic rs1774418 HYDIN AR NM_001270974 exon15 c.50291+166T>C Uncertain 16_70893911_C->T 16 70893911 70893911 C T snp 385.77 0/1 99 30 16 14 0.47 intronic rs1798319 HYDIN AR NM_001270974 exon16 c.52488-59C>T Uncertain 16_70893924_C->T 16 70893924 70893924 C T snp 305.77 0/1 99 40 24 16 0.4 intronic rs10852473 HYDIN AR NM_001270974 exon16 c.52488-46C>T Uncertain 16_70894024_C->T 16 70894024 70894024 C T snp 593.77 0/1 99 105 73 32 0.3 exonic rs11075798 HYDIN AR nonsynonymous SNV NM_001270974 exon71 c.G12076A p.A4026T 0.48 T 1 D -0.674 T 0.216 T 0.113 T Pathogenic 16_70894087_T->C 16 70894087 70894087 T C snp 120.77 0/1 99 130 114 16 0.12 exonic rs1539302 HYDIN AR nonsynonymous SNV NM_001270974 exon71 c.A12013G p.T4005A 0.12 T 1 D -1.165 T 0.999 D 0.993 D Pathogenic 16_70894123_A->G 16 70894123 70894123 A G snp 946.77 0/1 99 121 78 43 0.36 intronic rs1418287 HYDIN AR NM_001270974 exon16 c.52627+14A>G Uncertain 16_70894249_A->G 16 70894249 70894249 A G snp 187.77 0/1 99 19 11 8 0.42 intronic rs1418286 HYDIN AR NM_001270974 exon16 c.52627+140A>G Uncertain 16_70894437_C->T 16 70894437 70894437 C T snp 108.77 0/1 99 24 19 5 0.21 intronic rs1394575 HYDIN AR NM_001270974 exon17 c.53109-154C>T Uncertain 16_70894880_C->A 16 70894880 70894880 C A snp 114.77 0/1 99 8 4 4 0.5 intronic rs1798320 HYDIN AR NM_001270974 exon17 c.53322+76C>A Uncertain 16_70896016_A->- 16 70896016 70896016 A - indel 2691.73 0/1 99 151 75 76 0.5 exonic rs565285670 HYDIN AR frameshift deletion NM_001270974 exon69 c.11712delT p.I3904fs ID=COSM146271,COSM1317026;OCCURENCE=2(haematopoietic_and_lymphoid_tissue) Pathogenic 16_70896033_C->T 16 70896033 70896033 C T snp 884.77 0/1 99 152 105 47 0.31 exonic rs1626593 HYDIN AR nonsynonymous SNV NM_001270974 exon69 c.G11695A p.V3899M 0.01 T 1.000 P -1.053 T 0.999 D 0.976 D Pathogenic 16_70896118_A->G 16 70896118 70896118 A G snp 834.77 0/1 99 77 43 34 0.44 exonic rs1774421 HYDIN AR synonymous SNV NM_001270974 exon69 c.T11610C p.H3870H Uncertain 16_70896122_A->C 16 70896122 70896122 A C snp 242.77 0/1 99 73 59 14 0.19 exonic rs7192347 HYDIN AR nonsynonymous SNV NM_001270974 exon69 c.T11606G p.M3869R 0.37 T 1.000 N -0.926 T 0.015 T 0.002 T Pathogenic 16_70896975_C->T 16 70896975 70896975 C T snp 2458.77 0/1 99 232 127 105 0.45 intronic rs1798324 HYDIN AR NM_001270974 exon19 c.55505-12C>T Uncertain 16_70897039_C->G 16 70897039 70897039 C G snp 2682.77 0/1 99 247 136 111 0.45 exonic rs1798325 HYDIN AR nonsynonymous SNV NM_001270974 exon68 c.G11518C p.V3840L 0.66 T 0.999 D -0.897 T 0.011 T 0.039 T Pathogenic 16_70897310_T->G 16 70897310 70897310 T G snp 114.78 0/1 27 5 1 4 0.8 intronic rs1798326 HYDIN AR NM_001270974 exon19 c.55603+225T>G Uncertain 16_70899036_T->C 16 70899036 70899036 T C snp 273.77 0/1 99 20 11 9 0.45 intronic rs2656674 HYDIN AR NM_001270974 exon20 c.58589-1035T>C Uncertain 16_70899045_C->G 16 70899045 70899045 C G snp 69.77 0/1 98 34 29 5 0.15 intronic rs76126171 HYDIN AR NM_001270974 exon20 c.58589-1026C>G Uncertain 16_70899101_C->T 16 70899101 70899101 C T snp 2031.77 0/1 99 157 85 72 0.46 intronic rs2795806 HYDIN AR NM_001270974 exon20 c.58589-970C>T Uncertain 16_70899396_C->A 16 70899396 70899396 C A snp 1317.77 0/1 99 97 46 51 0.53 intronic rs2502682 HYDIN AR NM_001270974 exon20 c.58589-675C>A Uncertain 16_70900048_A->G 16 70900048 70900048 A G snp 3432.77 0/1 99 250 124 126 0.5 intronic rs2001936 HYDIN AR NM_001270974 exon20 c.58589-23A>G Uncertain 16_70900332_A->G 16 70900332 70900332 A G snp 65.77 0/1 94 11 8 3 0.27 intronic rs2487970 HYDIN AR NM_001270974 exon20 c.58750+100A>G Uncertain 16_70902559_C->T 16 70902559 70902559 C T snp 1559.77 0/1 99 119 53 66 0.55 exonic rs1798413 HYDIN AR nonsynonymous SNV NM_001270974 exon66 c.G11224A p.V3742I 0.17 T 1 D -0.632 T 0.473 P 0.084 P Pathogenic 16_70902568_C->T 16 70902568 70902568 C T snp 1770.77 0/1 99 132 57 75 0.57 exonic rs1774504 HYDIN AR nonsynonymous SNV NM_001270974 exon66 c.G11215A p.A3739T 0.54 T 1 D -0.804 T 0.181 T 0.054 T Pathogenic 16_70902683_G->A 16 70902683 70902683 G A snp 2036.77 0/1 99 151 59 92 0.61 exonic rs2502690 HYDIN AR synonymous SNV NM_001270974 exon66 c.C11100T p.H3700H 6.292e-05 0 Uncertain 16_70905913_A->- 16 70905913 70905913 A - indel 3404.73 0/1 99 250 133 117 0.47 intronic rs140651943 HYDIN AR NM_001270974 exon22 c.64457-26delA Uncertain 16_70908118_G->C 16 70908118 70908118 G C snp 31.77 0/1 60 6 4 2 0.33 intronic rs2487965 HYDIN AR NM_001270974 exon23 c.66725-89G>C Uncertain 16_70908239_G->A 16 70908239 70908239 G A snp 252.77 0/1 99 75 60 15 0.2 exonic rs1774311 HYDIN AR synonymous SNV NM_001270974 exon64 c.C10917T p.I3639I Uncertain 16_70908684_T->C 16 70908684 70908684 T C snp 3082.77 0/1 99 247 119 128 0.52 intronic rs1354549 HYDIN AR NM_001270974 exon24 c.67237-35T>C Uncertain 16_70908736_A->G 16 70908736 70908736 A G snp 2822.77 0/1 99 237 112 125 0.53 exonic rs1354550 HYDIN AR synonymous SNV NM_001270974 exon63 c.T10644C p.N3548N Uncertain 16_70913130_C->A 16 70913130 70913130 C A snp 159.77 0/1 99 23 17 6 0.26 intronic rs1774322 HYDIN AR NM_001270974 exon25 c.71717-69C>A Uncertain 16_70913386_G->A 16 70913386 70913386 G A snp 3147.77 0/1 99 250 124 126 0.5 exonic rs1774323 HYDIN AR synonymous SNV NM_001270974 exon62 c.C10371T p.T3457T Uncertain 16_70913467_T->C 16 70913467 70913467 T C snp 3459.77 0/1 99 250 117 133 0.53 intronic rs1774324 HYDIN AR NM_001270974 exon26 c.72025-40T>C 0.105831 0.014120 0.0021 0 Uncertain 16_70913501_T->C 16 70913501 70913501 T C snp 3484.77 0/1 99 250 116 134 0.54 intronic rs1774325 HYDIN AR NM_001270974 exon26 c.72025-6T>C Uncertain 16_70916531_C->T 16 70916531 70916531 C T snp 2289.77 0/1 99 185 102 83 0.45 intronic rs1798434 HYDIN AR NM_001270974 exon27 c.75080-31C>T Uncertain 16_70916617_G->A 16 70916617 70916617 G A snp 1158.77 0/1 99 249 193 56 0.22 exonic rs202051879 HYDIN AR synonymous SNV NM_001270974 exon60 c.C10161T p.N3387N 0.0173722 0.0724 0.001201 0.0106 0.0867 Uncertain 16_70916816_G->A 16 70916816 70916816 G A snp 968.77 0/1 99 167 119 48 0.29 intronic rs7190934 HYDIN AR NM_001270974 exon27 c.75316+18G>A Uncertain 16_70916819_C->T 16 70916819 70916819 C T snp 2125.77 0/1 99 162 81 81 0.5 intronic rs1798435 HYDIN AR NM_001270974 exon27 c.75316+21C>T Uncertain 16_70916849_A->G 16 70916849 70916849 A G snp 1661.77 0/1 99 118 56 62 0.53 intronic rs1774329 HYDIN AR NM_001270974 exon27 c.75316+51A>G Uncertain 16_70916896_T->C 16 70916896 70916896 T C snp 811.77 0/1 99 58 26 32 0.55 intronic rs1774330 HYDIN AR NM_001270974 exon27 c.75316+98T>C Uncertain 16_70916913_C->G 16 70916913 70916913 C G snp 472.77 0/1 99 29 12 17 0.59 intronic rs1798436 HYDIN AR NM_001270974 exon27 c.75316+115C>G Uncertain 16_70917705_C->T 16 70917705 70917705 C T snp 41.77 0/1 70 19 16 3 0.16 intronic rs11075804 HYDIN AR NM_001270974 exon28 c.76340-117C>T Uncertain 16_70917753_C->T 16 70917753 70917753 C T snp 306.77 0/1 99 56 42 14 0.25 intronic rs1798438 HYDIN AR NM_001270974 exon28 c.76340-69C>T Uncertain 16_70917785_C->T 16 70917785 70917785 C T snp 861.77 0/1 99 87 51 36 0.41 intronic rs1798439 HYDIN AR NM_001270974 exon28 c.76340-37C>T 0.200479 0.002 0.0527 0.0008 Uncertain 16_70917855_A->G 16 70917855 70917855 A G snp 1684.77 0/1 99 153 85 68 0.44 exonic rs1774331 HYDIN AR nonsynonymous SNV NM_001270974 exon59 c.T9947C p.L3316P 1 T 1 D -0.976 T 0.0 T 0.0 T Pathogenic 16_70917931_C->G 16 70917931 70917931 C G snp 1994.77 0/1 99 181 94 87 0.48 exonic rs1798440 HYDIN AR nonsynonymous SNV NM_001270974 exon59 c.G9871C p.A3291P 0.41 T 1 D -0.605 T 0.0 T 0.002 T Pathogenic 16_70923337_G->A 16 70923337 70923337 G A snp 166.77 0/1 99 43 34 9 0.21 intronic rs1774341 HYDIN AR NM_001270974 exon29 c.82007-152G>A Uncertain 16_70923714_G->C 16 70923714 70923714 G C snp 325.77 0/1 99 17 6 11 0.65 intronic rs1774343 HYDIN AR NM_001270974 exon29 c.82125+107G>C Uncertain 16_70925964_T->A 16 70925964 70925964 T A snp 86.77 0/1 30 4 1 3 0.75 intronic rs1418289 HYDIN AR NM_001270974 exon30 c.84305+177T>A Uncertain 16_70926214_G->A 16 70926214 70926214 G A snp 420.77 0/1 99 42 27 15 0.36 intronic rs1798453 HYDIN AR NM_001270974 exon31 c.84781-49G>A Uncertain 16_70926334_G->C 16 70926334 70926334 G C snp 759.77 0/1 99 190 149 41 0.22 exonic rs1774423 HYDIN AR nonsynonymous SNV NM_001270974 exon56 c.C9347G p.T3116R 0.54 T 1 D -0.621 T 0.7 T 0.338 P Pathogenic 16_70926445_A->T 16 70926445 70926445 A T snp 2213.77 0/1 99 189 94 95 0.5 intronic rs1798454 HYDIN AR NM_001270974 exon31 c.84950+13A>T Uncertain 16_70926472_C->G 16 70926472 70926472 C G snp 848.77 0/1 99 136 94 42 0.31 intronic rs7192929 HYDIN AR NM_001270974 exon31 c.84950+40C>G 0.0074 0.0031 Uncertain 16_70928248_G->A 16 70928248 70928248 G A snp 468.77 0/1 99 125 97 28 0.22 intronic rs1774431 HYDIN AR NM_001270974 exon32 c.86869-103G>A Uncertain 16_70928259_C->G 16 70928259 70928259 C G snp 1857.77 0/1 99 150 76 74 0.49 intronic rs1774432 HYDIN AR NM_001270974 exon32 c.86869-92C>G Uncertain 16_70928307_C->A 16 70928307 70928307 C A snp 2309.77 0/1 99 216 113 103 0.48 intronic rs1354552 HYDIN AR NM_001270974 exon32 c.86869-44C>A Uncertain 16_70928314_G->C 16 70928314 70928314 G C snp 628.77 0/1 99 225 185 40 0.18 intronic rs1774433 HYDIN AR NM_001270974 exon32 c.86869-37G>C Uncertain 16_70929671_C->T 16 70929671 70929671 C T snp 80.77 0/1 99 7 4 3 0.43 intronic rs1774435 HYDIN AR NM_001270974 exon33 c.88401-212C>T Uncertain 16_70929726_C->T 16 70929726 70929726 C T snp 837.77 0/1 99 63 32 31 0.49 intronic rs1774436 HYDIN AR NM_001270974 exon33 c.88401-157C>T Uncertain 16_70929776_T->C 16 70929776 70929776 T C snp 1465.77 0/1 99 150 83 67 0.45 intronic rs1774437 HYDIN AR NM_001270974 exon33 c.88401-107T>C 0.0499201 Uncertain 16_70929777_G->C 16 70929777 70929777 G C snp 1602.77 0/1 99 159 88 71 0.45 intronic rs1774438 HYDIN AR NM_001270974 exon33 c.88401-106G>C 0.0497204 Uncertain 16_70930002_G->T 16 70930002 70930002 G T snp 2949.77 0/1 99 242 117 125 0.52 intronic rs1774439 HYDIN AR NM_001270974 exon33 c.88501+19G>T Uncertain 16_70930060_C->A 16 70930060 70930060 C A snp 1650.77 0/1 99 129 64 65 0.5 intronic rs2795773 HYDIN AR NM_001270974 exon33 c.88501+77C>A Uncertain 16_70934994_C->T 16 70934994 70934994 C T snp 974.77 0/1 99 204 150 54 0.26 exonic rs2502696 HYDIN AR synonymous SNV NM_001270974 exon53 c.G8961A p.G2987G Uncertain 16_70935158_G->A 16 70935158 70935158 G A snp 222.77 0/1 99 28 19 9 0.32 intronic rs1798467 HYDIN AR NM_001270974 exon34 c.93623+53G>A Uncertain 16_70935224_A->T 16 70935224 70935224 A T snp 41.77 0/1 68 4 2 2 0.5 intronic rs6499350 HYDIN AR NM_001270974 exon34 c.93623+119A>T 0.533946 0.3562 Uncertain 16_70937994_C->G 16 70937994 70937994 C G snp 2732.77 0/1 99 217 117 100 0.46 intronic rs2502699 HYDIN AR NM_001270974 exon36 c.96485+27C>G Uncertain 16_70941067_T->C 16 70941067 70941067 T C snp 33.77 0/1 62 6 4 2 0.33 intronic rs1798488 HYDIN AR NM_001270974 exon37 c.99792-207T>C Uncertain 16_70941093_C->T 16 70941093 70941093 C T snp 278.77 0/1 99 22 13 9 0.41 intronic rs1798487 HYDIN AR NM_001270974 exon37 c.99792-181C>T Uncertain 16_70941523_T->A 16 70941523 70941523 T A snp 35.77 0/1 64 6 4 2 0.33 intronic rs1798486 HYDIN AR NM_001270974 exon37 c.99912+129T>A Uncertain 16_70942030_T->C 16 70942030 70942030 T C snp 522.77 0/1 99 21 6 15 0.71 intronic rs1394581 HYDIN AR NM_001270974 exon38 c.100672-124T>C Uncertain 16_70942103_G->T 16 70942103 70942103 G T snp 2198.77 0/1 99 156 68 88 0.56 intronic rs1394580 HYDIN AR NM_001270974 exon38 c.100672-51G>T Uncertain 16_70942114_C->G 16 70942114 70942114 C G snp 1157.77 0/1 99 190 134 56 0.29 intronic rs1418284 HYDIN AR NM_001270974 exon38 c.100672-40C>G Uncertain 16_70942688_A->C 16 70942688 70942688 A C snp 3198.81 0/1 99 250 141 109 0.44 exonic rs1774449 HYDIN AR nonsynonymous SNV NM_001270974 exon48 c.T8081G p.I2694S 0.83 T 1 N -0.939 T 0.0 T 0.0 T Pathogenic 16_70942816_A->C 16 70942816 70942816 A C snp 2811.77 0/1 99 206 96 110 0.53 intronic rs1798482 HYDIN AR NM_001270974 exon39 c.101282+52A>C Uncertain 16_70951939_T->C 16 70951939 70951939 T C snp 280.77 0/1 99 19 10 9 0.47 intronic rs1798525 HYDIN AR NM_001270974 exon40 c.110631-174T>C Uncertain 16_70952002_C->T 16 70952002 70952002 C T snp 2192.77 0/1 99 105 27 78 0.74 intronic rs1774399 HYDIN AR NM_001270974 exon40 c.110631-111C>T 0.111222 0.0486 Uncertain 16_70952401_T->C 16 70952401 70952401 T C snp 116.77 0/1 66 6 2 4 0.67 intronic rs1774398 HYDIN AR NM_001270974 exon40 c.110850+69T>C Uncertain 16_70954375_T->C 16 70954375 70954375 T C snp 217.77 0/1 99 13 6 7 0.54 intronic rs1798527 HYDIN AR NM_001270974 exon41 c.113011-118T>C Uncertain 16_70954434_C->T 16 70954434 70954434 C T snp 1232.77 0/1 99 85 39 46 0.54 intronic rs1774397 HYDIN AR NM_001270974 exon41 c.113011-59C>T Uncertain 16_70954452_T->C 16 70954452 70954452 T C snp 1782.77 0/1 99 132 64 68 0.52 intronic rs1774396 HYDIN AR NM_001270974 exon41 c.113011-41T>C Uncertain 16_70954513_T->C 16 70954513 70954513 T C snp 2907.77 0/1 99 250 122 128 0.51 exonic rs1774395 HYDIN AR nonsynonymous SNV NM_001270974 exon46 c.A7766G p.K2589R 0.6 T 0.991 N -0.905 T 0.001 T 0.004 T Pathogenic 16_70954571_C->T 16 70954571 70954571 C T snp 2849.77 0/1 99 246 125 121 0.49 exonic rs8044001 HYDIN AR nonsynonymous SNV NM_001270974 exon46 c.G7708A p.D2570N 0.51 T 0.999 N -0.944 T 0.0 T 0.0 T Pathogenic 16_70954572_T->A 16 70954572 70954572 T A snp 2840.77 0/1 99 248 127 121 0.49 exonic rs8045289 HYDIN AR synonymous SNV NM_001270974 exon46 c.A7707T p.L2569L Uncertain 16_70954606_C->T 16 70954606 70954606 C T snp 2598.77 0/1 99 248 132 116 0.47 exonic rs8044142 HYDIN AR nonsynonymous SNV NM_001270974 exon46 c.G7673A p.G2558E 1 T 1 D -0.716 T 0.998 D 0.955 D Pathogenic 16_70954691_T->C 16 70954691 70954691 T C snp 554.77 0/1 99 137 107 30 0.22 exonic rs1798528 HYDIN AR nonsynonymous SNV NM_001270974 exon46 c.A7588G p.K2530E 0.6 T 1 D -0.365 T 0.868 T 0.359 P Pathogenic 16_70954774_A->G 16 70954774 70954774 A G snp 2092.77 0/1 99 156 79 77 0.49 exonic rs1798529 HYDIN AR nonsynonymous SNV NM_001270974 exon46 c.T7505C p.L2502S 1 T 1 D -0.985 T 0.0 T 0.0 T Pathogenic 16_70954809_C->A 16 70954809 70954809 C A snp 2579.77 0/1 99 203 93 110 0.54 exonic rs1798530 HYDIN AR synonymous SNV NM_001270974 exon46 c.G7470T p.A2490A Uncertain 16_70954915_G->T 16 70954915 70954915 G T snp 7394.77 1/1 99 250 1 249 1.0 exonic rs1798531 HYDIN AR nonsynonymous SNV NM_001270974 exon46 c.C7364A p.P2455Q 0.999002 1 0.993735 0.9948 1 1 T 1.000 P -1.007 T 0.0 T 0.0 T Pathogenic 16_70954945_T->A 16 70954945 70954945 T A snp 4036.77 0/1 99 250 108 142 0.57 exonic rs1798532 HYDIN AR nonsynonymous SNV NM_001270974 exon46 c.A7334T p.N2445I 0.19 T 1.000 N -0.903 T 0.0 T 0.0 T Pathogenic 16_70955192_A->G 16 70955192 70955192 A G snp 2774.77 0/1 99 213 109 104 0.49 intronic rs1798533 HYDIN AR NM_001270974 exon41 c.113638+72A>G Uncertain 16_70955316_T->C 16 70955316 70955316 T C snp 48.74 1/1 6 2 0 2 1.0 intronic rs1774394 HYDIN AR NM_001270974 exon41 c.113638+196T>C Uncertain 16_70967558_G->A 16 70967558 70967558 G A snp 2201.77 0/1 99 212 118 94 0.44 intronic rs1798396 HYDIN AR NM_001270974 exon42 c.128372-2296G>A Uncertain 16_70967634_T->A 16 70967634 70967634 T A snp 1916.77 0/1 99 183 96 87 0.48 intronic rs1774371 HYDIN AR NM_001270974 exon42 c.128372-2220T>A Uncertain 16_70967674_T->C 16 70967674 70967674 T C snp 1712.77 0/1 99 132 67 65 0.49 intronic rs1774370 HYDIN AR NM_001270974 exon42 c.128372-2180T>C Uncertain 16_70970096_T->G 16 70970096 70970096 T G snp 562.77 0/1 99 43 22 21 0.49 intronic rs1418291 HYDIN AR NM_001270974 exon42 c.128535+79T>G Uncertain 16_70972595_T->C 16 70972595 70972595 T C snp 1224.77 0/1 99 249 193 56 0.22 exonic rs2502726 HYDIN AR nonsynonymous SNV NM_001270974 exon44 c.A6917G p.E2306G 0.453874 0.4365 0.6164 0.4426 0.01 T 1.0 P -1.185 T 1.0 D 0.998 D Pathogenic 16_70972620_G->C 16 70972620 70972620 G C snp 3123.77 0/1 99 250 130 120 0.48 exonic rs1774360 HYDIN AR nonsynonymous SNV NM_001270974 exon44 c.C6892G p.R2298G 0.02 T 1 D -0.729 T 1.0 D 0.998 D Pathogenic 16_70972701_T->C 16 70972701 70972701 T C snp 2417.77 0/1 99 217 116 101 0.47 intronic rs1616432 HYDIN AR NM_001270974 exon43 c.131176+43T>C 0.0002 0 Uncertain 16_70972758_A->G 16 70972758 70972758 A G snp 1037.77 0/1 99 73 39 34 0.47 intronic rs1615677 HYDIN AR NM_001270974 exon43 c.131176+100A>G Uncertain 16_70972784_A->G 16 70972784 70972784 A G snp 775.77 0/1 99 36 13 23 0.64 intronic rs1615602 HYDIN AR NM_001270974 exon43 c.131176+126A>G 0.448682 0.4365 Uncertain 16_70975565_T->C 16 70975565 70975565 T C snp 1036.77 0/1 99 232 181 51 0.22 exonic rs1815707 HYDIN AR nonsynonymous SNV NM_001270974 exon43 c.A6827G p.Q2276R 1 T 1 D -0.931 T 0.001 T 0.002 T Pathogenic 16_70975667_T->C 16 70975667 70975667 T C snp 3606.77 0/1 99 249 121 128 0.51 exonic rs2258307 HYDIN AR nonsynonymous SNV NM_001270974 exon43 c.A6725G p.Q2242R 1 T 0.979 N -0.944 T 0.0 T 0.0 T Pathogenic 16_70975828_A->G 16 70975828 70975828 A G snp 92.77 0/1 99 65 57 8 0.12 intronic rs77212304 HYDIN AR NM_001270974 exon44 c.134240+106A>G Uncertain 16_70975911_A->C 16 70975911 70975911 A C snp 112.77 0/1 99 8 3 5 0.63 intronic rs2486980 HYDIN AR NM_001270974 exon44 c.134240+189A>C Uncertain 16_70977564_C->T 16 70977564 70977564 C T snp 75.77 0/1 99 6 3 3 0.5 intronic rs74024607 HYDIN AR NM_001270974 exon45 c.136232-150C>T Uncertain 16_70977593_C->T 16 70977593 70977593 C T snp 403.77 0/1 99 31 18 13 0.42 intronic rs12149629 HYDIN AR NM_001270974 exon45 c.136232-121C>T Uncertain 16_70977601_T->C 16 70977601 70977601 T C snp 617.77 0/1 99 48 27 21 0.44 intronic rs12149138 HYDIN AR NM_001270974 exon45 c.136232-113T>C Uncertain 16_70977647_T->C 16 70977647 70977647 T C snp 2180.77 0/1 99 159 84 75 0.47 intronic rs76776007 HYDIN AR NM_001270974 exon45 c.136232-67T>C Uncertain 16_70977695_T->C 16 70977695 70977695 T C snp 2839.77 0/1 99 249 135 114 0.46 intronic rs12149139 HYDIN AR NM_001270974 exon45 c.136232-19T>C 0.0179 0 Uncertain 16_70986480_G->A 16 70986480 70986480 G A snp 1673.77 0/1 99 149 75 74 0.5 exonic rs2458386 HYDIN AR synonymous SNV NM_001270974 exon41 c.C6375T p.T2125T Uncertain 16_70986605_G->A 16 70986605 70986605 G A snp 290.77 0/1 99 47 32 15 0.32 intronic rs783743 HYDIN AR NM_001270974 exon46 c.145056+67G>A Uncertain 16_70989299_C->T 16 70989299 70989299 C T snp 1813.77 0/1 99 172 94 78 0.45 exonic rs1798337 HYDIN AR nonsynonymous SNV NM_001270974 exon40 c.G6295A p.V2099M 0.67 T 1 D -1.014 T 0.0 T 0.0 T Pathogenic 16_70989335_G->A 16 70989335 70989335 G A snp 2086.77 0/1 99 204 113 91 0.45 exonic rs1774541 HYDIN AR nonsynonymous SNV NM_001270974 exon40 c.C6259T p.R2087C 0.000399361 0.002 0.02 T 1 D -0.588 T 1.0 D 0.998 D Pathogenic 16_70993505_A->G 16 70993505 70993505 A G snp 41.77 0/1 70 24 20 4 0.17 intronic rs7198975 HYDIN AR NM_001270974 exon48 c.152067-44A>G 0.413139 0.4702 0.0095 0.0143 Uncertain 16_70993566_A->G 16 70993566 70993566 A G snp 935.77 0/1 99 58 22 36 0.62 exonic rs1774266 HYDIN AR synonymous SNV NM_001270974 exon39 c.T6126C p.H2042H 0.439097 0.3968 0.0014 0.0013 Uncertain 16_70993881_C->G 16 70993881 70993881 C G snp 188.77 0/1 99 17 10 7 0.41 intronic rs4028084 HYDIN AR NM_001270974 exon48 c.152241+158C>G Uncertain 16_70993882_T->A 16 70993882 70993882 T A snp 177.77 0/1 99 17 10 7 0.41 intronic rs3865228 HYDIN AR NM_001270974 exon48 c.152241+159T>A Uncertain 16_70995768_G->T 16 70995768 70995768 G T snp 661.77 0/1 99 60 37 23 0.38 intronic rs1354547 HYDIN AR NM_001270974 exon49 c.154379-93G>T Uncertain 16_70995845_C->T 16 70995845 70995845 C T snp 4701.77 0/1 99 250 65 185 0.74 intronic rs1354548 HYDIN AR NM_001270974 exon49 c.154379-16C>T 0.549521 0.4335 0.0285 0.0220 Uncertain 16_70996116_A->- 16 70996116 70996116 A - indel 684.73 0/1 99 62 21 41 0.66 intronic rs10713272 HYDIN AR NM_001270974 exon49 c.154559+75delA 0.486821 0.4812 Uncertain 16_70998603_T->C 16 70998603 70998603 T C snp 2885.77 0/1 99 225 101 124 0.55 intronic rs1512631 HYDIN AR NM_001270974 exon50 c.157148-27T>C Uncertain 16_70998808_G->A 16 70998808 70998808 G A snp 841.77 0/1 99 57 28 29 0.51 intronic rs8056408 HYDIN AR NM_001270974 exon50 c.157317+9G>A 0.0191 0.0222 Uncertain 16_71004695_G->A 16 71004695 71004695 G A snp 2191.77 0/1 99 203 107 96 0.47 intronic rs1512633 HYDIN AR NM_001270974 exon51 c.163180+33G>A Uncertain 16_71004731_T->C 16 71004731 71004731 T C snp 1271.77 0/1 99 122 68 54 0.44 intronic rs1774286 HYDIN AR NM_001270974 exon51 c.163180+69T>C Uncertain 16_71004811_G->A 16 71004811 71004811 G A snp 90.77 0/1 99 13 9 4 0.31 intronic rs932053 HYDIN AR NM_001270974 exon51 c.163180+149G>A Uncertain 16_71007459_C->A 16 71007459 71007459 C A snp 574.77 0/1 99 102 77 25 0.25 intronic rs12599829 HYDIN AR NM_001270974 exon52 c.165913+64C>A Uncertain 16_71007657_G->A 16 71007657 71007657 G A snp 465.77 0/1 99 28 14 14 0.5 intronic rs783761 HYDIN AR NM_001270974 exon53 c.166249-74G>A Uncertain 16_71008169_T->C 16 71008169 71008169 T C snp 2758.77 0/1 99 245 122 123 0.5 exonic rs1774293 HYDIN AR synonymous SNV NM_001270974 exon33 c.A4944G p.L1648L Uncertain 16_71008301_G->A 16 71008301 71008301 G A snp 1947.77 0/1 99 175 92 83 0.47 intronic rs1774294 HYDIN AR NM_001270974 exon54 c.166721+98G>A Uncertain 16_71008389_A->C 16 71008389 71008389 A C snp 1614.77 0/1 99 59 10 49 0.83 intronic rs1774295 HYDIN AR NM_001270974 exon55 c.166954-47A>C 0.474441 0.6339 4.138e-05 0.0006 Uncertain 16_71008417_G->C 16 71008417 71008417 G C snp 917.77 0/1 99 71 37 34 0.48 intronic rs783763 HYDIN AR NM_001270974 exon55 c.166954-19G>C Uncertain 16_71008716_T->C 16 71008716 71008716 T C snp 284.77 0/1 51 12 2 10 0.83 intronic rs1774296 HYDIN AR NM_001270974 exon55 c.167091+143T>C Uncertain 16_71009387_G->A 16 71009387 71009387 G A snp 107.77 0/1 99 9 5 4 0.44 intronic rs1798550 HYDIN AR NM_001270974 exon56 c.167690+215G>A Uncertain 16_71012855_T->C 16 71012855 71012855 T C snp 2727.77 0/1 99 250 140 110 0.44 exonic rs1774303 HYDIN AR nonsynonymous SNV NM_001270974 exon30 c.A4600G p.I1534V 0.0061901 0.006 0.0003 0.0004 0.31 T 1.000 N -0.922 T 0.001 T 0.001 T Pathogenic 16_71013085_C->T 16 71013085 71013085 C T snp 342.77 0/1 99 20 8 12 0.6 intronic rs77020641 HYDIN AR NM_001270974 exon57 c.171462+141C>T Uncertain 16_71013115_G->T 16 71013115 71013115 G T snp 38.77 0/1 31 3 1 2 0.67 intronic rs1798545 HYDIN AR NM_001270974 exon57 c.171462+171G>T 0.622604 0.6458 Uncertain 16_71015290_C->G 16 71015290 71015290 C G snp 917.77 0/1 99 52 20 32 0.62 splicing rs2669067 HYDIN AR NM_001270974 exon58 c.173811-3C>G Pathogenic 16_71015329_G->T 16 71015329 71015329 G T snp 118.77 0/1 99 96 85 11 0.11 exonic rs78763837 HYDIN AR nonsynonymous SNV NM_001270974 exon29 c.C4475A p.P1492H 0.467252 0.5645 0.4087 0.5700 0.09 T 1.0 P -0.929 T 1.0 D 0.999 D Pathogenic 16_71015482_G->A 16 71015482 71015482 G A snp 948.77 0/1 99 81 41 40 0.49 intronic rs1798537 HYDIN AR NM_001270974 exon58 c.173989+11G>A Uncertain 16_71015555_A->C 16 71015555 71015555 A C snp 283.77 0/1 99 17 8 9 0.53 intronic rs1616792 HYDIN AR NM_001270974 exon58 c.173989+84A>C Uncertain 16_71019064_G->A 16 71019064 71019064 G A snp 1172.77 0/1 99 74 34 40 0.54 intronic rs2487943 HYDIN AR NM_001270974 exon59 c.177605-23G>A 0.0002 0.0005 Uncertain 16_71019330_A->G 16 71019330 71019330 A G snp 1191.77 0/1 99 98 54 44 0.45 intronic rs1774523 HYDIN AR NM_001270974 exon59 c.177743+105A>G Uncertain 16_71019391_T->C 16 71019391 71019391 T C snp 174.77 0/1 99 16 10 6 0.38 intronic rs1798491 HYDIN AR NM_001270974 exon59 c.177743+166T>C Uncertain 16_71025245_C->T 16 71025245 71025245 C T snp 3237.77 0/1 99 250 124 126 0.5 exonic rs1774516 HYDIN AR synonymous SNV NM_001270974 exon25 c.G3840A p.T1280T Uncertain 16_71025394_C->T 16 71025394 71025394 C T snp 1930.77 0/1 99 129 64 65 0.5 intronic rs783749 HYDIN AR NM_001270974 exon62 c.183817+95C>T Uncertain 16_71025776_T->C 16 71025776 71025776 T C snp 1712.77 0/1 99 161 89 72 0.45 intronic rs1798502 HYDIN AR NM_001270974 exon63 c.184490-196T>C Uncertain 16_71025872_T->G 16 71025872 71025872 T G snp 674.77 0/1 99 47 24 23 0.49 intronic rs1774515 HYDIN AR NM_001270974 exon63 c.184490-100T>G Uncertain 16_71025948_T->A 16 71025948 71025948 T A snp 1348.77 0/1 99 84 31 53 0.63 intronic rs1774514 HYDIN AR NM_001270974 exon63 c.184490-24T>A Uncertain 16_71026076_C->G 16 71026076 71026076 C G snp 1434.77 0/1 99 141 73 68 0.48 exonic rs1774513 HYDIN AR nonsynonymous SNV NM_001270974 exon24 c.G3682C p.V1228L 0.73 T 1 N -0.925 T 0.0 T 0.0 T Pathogenic 16_71026098_C->T 16 71026098 71026098 C T snp 1374.77 0/1 99 126 69 57 0.45 exonic rs704641 HYDIN AR synonymous SNV NM_001270974 exon24 c.G3660A p.P1220P 0.000199681 0.0001 0.0002 Uncertain 16_71052470_C->T 16 71052470 71052470 C T snp 762.77 0/1 99 52 23 29 0.56 intronic rs1546535 HYDIN AR NM_001270974 exon64 c.210863+125C>T Uncertain 16_71054032_G->A 16 71054032 71054032 G A snp 658.77 0/1 99 51 26 25 0.49 intronic rs4788717 HYDIN AR NM_001270974 exon65 c.212594-44G>A Uncertain 16_71054061_A->C 16 71054061 71054061 A C snp 1152.77 0/1 99 93 44 49 0.53 intronic rs4788718 HYDIN AR NM_001270974 exon65 c.212594-15A>C Uncertain 16_71054178_T->C 16 71054178 71054178 T C snp 2977.77 0/1 99 250 125 125 0.5 exonic rs6416709 HYDIN AR nonsynonymous SNV NM_001270974 exon22 c.A3229G p.I1077V 0.000399361 0.0001 0 0.47 T 1 D -0.988 T 0.002 T 0.005 T Pathogenic 16_71054352_TA->- 16 71054352 71054353 TA - indel 358.73 0/1 47 21 2 19 0.9 intronic rs200681371 HYDIN AR NM_001270974 exon65 c.212738+132_212738+133delTA Uncertain 16_71054355_A->G 16 71054355 71054355 A G snp 421.77 0/1 99 18 6 12 0.67 intronic rs8058317 HYDIN AR NM_001270974 exon65 c.212738+135A>G Uncertain 16_71061364_T->C 16 71061364 71061364 T C snp 222.77 0/1 99 12 5 7 0.58 intronic rs1022219 HYDIN AR NM_001270974 exon67 c.220022-140T>C Uncertain 16_71061495_A->G 16 71061495 71061495 A G snp 1699.77 0/1 99 142 68 74 0.52 intronic rs1022220 HYDIN AR NM_001270974 exon67 c.220022-9A>G 1 N Uncertain 16_71065560_C->T 16 71065560 71065560 C T snp 1354.77 0/1 99 131 76 55 0.42 intronic rs6499399 HYDIN AR NM_017558 exon2 c.4089-21C>T 0.0001 0 Uncertain 16_71065868_T->C 16 71065868 71065868 T C snp 2550.77 0/1 99 220 119 101 0.46 intronic rs2356027 HYDIN AR NM_001198543 exon1 c.243+48T>C Uncertain 16_71094264_C->T 16 71094264 71094264 C T snp 258.8 1/1 21 7 0 7 1.0 intronic rs1512604 HYDIN AR NM_001198543 exon2 c.28829-142C>T Uncertain 16_71094682_C->T 16 71094682 71094682 C T snp 214.77 0/1 99 14 7 7 0.5 intronic rs6499422 HYDIN AR NM_001198543 exon2 c.28982+123C>T Uncertain 16_71095956_C->G 16 71095956 71095956 C G snp 414.77 0/1 99 48 33 15 0.31 intronic rs7188044 HYDIN AR NM_001198543 exon3 c.30494-115C>G Uncertain 16_71095987_T->C 16 71095987 71095987 T C snp 1152.77 0/1 99 118 73 45 0.38 intronic rs7189449 HYDIN AR NM_001198543 exon3 c.30494-84T>C Uncertain 16_71096248_A->C 16 71096248 71096248 A C snp 924.77 0/1 99 63 32 31 0.49 intronic rs7188473 HYDIN AR NM_001198543 exon3 c.30659+12A>C Uncertain 16_71096309_T->C 16 71096309 71096309 T C snp 180.77 0/1 99 16 10 6 0.38 intronic rs7190153 HYDIN AR NM_001198543 exon3 c.30659+73T>C Uncertain 16_71096324_G->A 16 71096324 71096324 G A snp 190.77 0/1 99 11 5 6 0.55 intronic rs7189147 HYDIN AR NM_001198543 exon3 c.30659+88G>A Uncertain 16_71098649_T->C 16 71098649 71098649 T C snp 1583.77 0/1 99 161 90 71 0.44 exonic rs3817211 HYDIN AR nonsynonymous SNV NM_001270974 exon16 c.A2170G p.N724D 0 D 1 D -0.954 T 1.0 D 1.0 D Pathogenic 16_71098800_A->C 16 71098800 71098800 A C snp 387.77 0/1 99 29 14 15 0.52 intronic rs3817212 HYDIN AR NM_001198543 exon4 c.33166+57A>C Uncertain 16_71098817_G->A 16 71098817 71098817 G A snp 301.77 0/1 99 17 7 10 0.59 intronic rs3817214 HYDIN AR NM_001198543 exon4 c.33166+74G>A Uncertain 16_71100594_G->A 16 71100594 71100594 G A snp 390.77 0/1 87 18 4 14 0.78 intronic rs1108875 HYDIN AR NM_001198543 exon5 c.35615-598G>A Uncertain 16_71100838_T->C 16 71100838 71100838 T C snp 329.77 0/1 99 78 58 20 0.26 intronic rs62039227 HYDIN AR NM_001198543 exon5 c.35615-354T>C 0.3366 0.1856 0.000 P Uncertain 16_71100948_T->C 16 71100948 71100948 T C snp 137.77 0/1 99 18 11 7 0.39 intronic rs6416718 HYDIN AR NM_001198543 exon5 c.35615-244T>C Uncertain 16_71101200_T->C 16 71101200 71101200 T C snp 1108.77 0/1 99 123 75 48 0.39 exonic rs10744982 HYDIN AR nonsynonymous SNV NM_001270974 exon15 c.A2068G p.T690A 0.0002 0.0002 0.5 T 0.947 D -1.041 T 0.994 D 0.922 D Pathogenic 16_71101270_C->T 16 71101270 71101270 C T snp 1793.77 0/1 99 206 123 83 0.4 exonic rs10735134 HYDIN AR synonymous SNV NM_001270974 exon15 c.G1998A p.V666V 1 D -0.870 T Likely benign 16_71101431_T->C 16 71101431 71101431 T C snp 335.77 0/1 99 17 7 10 0.59 intronic rs56122036 HYDIN AR NM_001198543 exon5 c.35716+138T>C Uncertain 16_71101433_-->A 16 71101433 71101433 - A indel 434.5 0/1 3 13 1 12 0.92 intronic rs139282877 HYDIN AR NM_001198543 exon5 c.35716+140insA Uncertain 16_71103084_G->A 16 71103084 71103084 G A snp 500.77 0/1 99 35 18 17 0.49 intronic rs1355634 HYDIN AR NM_001198543 exon6 c.37592-85G>A Uncertain 16_71103114_A->G 16 71103114 71103114 A G snp 1636.77 0/1 99 74 19 55 0.74 intronic rs6416719 HYDIN AR NM_001198543 exon6 c.37592-55A>G 0.605232 0.7321 Uncertain 16_71103148_G->A 16 71103148 71103148 G A snp 521.77 0/1 99 125 98 27 0.22 intronic rs1398390 HYDIN AR NM_001198543 exon6 c.37592-21G>A 0.590655 0.7321 0.3962 0.7101 Uncertain 16_71103269_T->C 16 71103269 71103269 T C snp 3003.77 0/1 99 250 139 111 0.44 exonic rs1398391 HYDIN AR synonymous SNV NM_001270974 exon14 c.A1875G p.P625P 1 N -1.068 T Likely benign 16_71103419_T->C 16 71103419 71103419 T C snp 2546.77 0/1 99 214 111 103 0.48 intronic rs1398392 HYDIN AR NM_001198543 exon6 c.37828+14T>C Uncertain 16_71103547_TTATTT->- 16 71103547 71103552 TTATTT - indel 1475.73 0/1 99 38 14 24 0.63 intronic rs138383022 HYDIN AR NM_001198543 exon6 c.37828+142_37828+147delTTATTT Uncertain 16_71103603_C->T 16 71103603 71103603 C T snp 83.77 0/1 69 5 2 3 0.6 intronic rs1877466 HYDIN AR NM_001198543 exon6 c.37828+198C>T Uncertain 16_71109662_C->G 16 71109662 71109662 C G snp 198.77 0/1 99 23 14 9 0.39 intronic rs917009 HYDIN AR NM_001198543 exon7 c.48210-4125C>G 0.593251 0.7341 Uncertain 16_71109768_G->A 16 71109768 71109768 G A snp 1163.77 0/1 99 98 51 47 0.48 intronic rs1877467 HYDIN AR NM_001198543 exon7 c.48210-4019G>A Uncertain 16_71109904_C->A 16 71109904 71109904 C A snp 1461.77 0/1 99 143 77 66 0.46 intronic rs2036978 HYDIN AR NM_001198543 exon7 c.48210-3883C>A Uncertain 16_71110066_A->G 16 71110066 71110066 A G snp 139.03 1/1 12 4 0 4 1.0 intronic rs1512609 HYDIN AR NM_001198543 exon7 c.48210-3721A>G Uncertain 16_71113780_C->T 16 71113780 71113780 C T snp 1650.77 0/1 99 148 78 70 0.47 intronic rs1512612 HYDIN AR NM_001198543 exon7 c.48210-7C>T Uncertain 16_71113987_G->A 16 71113987 71113987 G A snp 772.77 0/1 99 50 23 27 0.54 intronic rs1512614 HYDIN AR NM_001198543 exon7 c.48278+132G>A Uncertain 16_71122408_C->T 16 71122408 71122408 C T snp 704.77 0/1 99 160 95 65 0.41 exonic rs62040318 HYDIN AR nonsynonymous SNV NM_001270974 exon12 c.G1466A p.G489D 0.06 T 1.000 D -0.726 T 1.0 D 1.0 D Pathogenic 16_71127585_G->A 16 71127585 71127585 G A snp 37.77 0/1 66 7 5 2 0.29 intronic rs1398401 HYDIN AR NM_001198543 exon9 c.62142-134G>A 0.594649 0.7331 Uncertain 16_71127653_ATAAG->- 16 71127653 71127657 ATAAG - indel 2395.73 0/1 99 78 44 34 0.44 intronic rs141111888 HYDIN AR NM_001198543 exon9 c.62142-66_62142-62delATAAG Uncertain 16_71127683_A->- 16 71127683 71127683 A - indel 1686.73 0/1 99 182 132 50 0.27 intronic rs11362196 HYDIN AR NM_001198543 exon9 c.62142-36delA Uncertain 16_71127700_C->T 16 71127700 71127700 C T snp 3075.77 0/1 99 234 114 120 0.51 intronic rs3859177 HYDIN AR NM_001198543 exon9 c.62142-19C>T 1.655e-05 0 Uncertain 16_71127850_A->G 16 71127850 71127850 A G snp 3087.77 0/1 99 235 114 121 0.51 intronic rs4315334 HYDIN AR NM_001198543 exon9 c.62261+12A>G Uncertain 16_71149536_G->A 16 71149536 71149536 G A snp 1893.77 0/1 99 173 93 80 0.46 intronic rs1859374 HYDIN AR NM_001198543 exon10 c.84021-62G>A Uncertain 16_71149713_A->G 16 71149713 71149713 A G snp 910.77 0/1 99 201 148 53 0.26 intronic HYDIN AR NM_001198543 exon10 c.84121+15A>G Uncertain 16_71149782_T->G 16 71149782 71149782 T G snp 882.77 0/1 99 47 20 27 0.57 intronic rs916997 HYDIN AR NM_001198543 exon10 c.84121+84T>G Uncertain 16_71163452_C->T 16 71163452 71163452 C T snp 780.77 0/1 99 69 37 32 0.46 intronic rs929310 HYDIN AR NM_001198543 exon11 c.97965-90C>T Uncertain 16_71163579_C->T 16 71163579 71163579 C T snp 2370.77 0/1 99 210 104 106 0.5 exonic rs929311 HYDIN AR synonymous SNV NM_001270974 exon9 c.G1191A p.K397K 0.0005 0.0002 Uncertain 16_71163606_C->T 16 71163606 71163606 C T snp 469.77 0/1 99 224 187 37 0.17 exonic rs929312 HYDIN AR synonymous SNV NM_001270974 exon9 c.G1164A p.Q388Q Uncertain 16_71163693_A->G 16 71163693 71163693 A G snp 647.77 0/1 99 180 140 40 0.22 exonic rs4788770 HYDIN AR synonymous SNV NM_001270974 exon9 c.T1077C p.D359D 0.3847 0.5369 Uncertain 16_71167013_C->T 16 71167013 71167013 C T snp 249.77 0/1 99 38 28 10 0.26 intronic rs979208 HYDIN AR NM_001198543 exon11 c.98149+3287C>T Uncertain 16_71167036_G->A 16 71167036 71167036 G A snp 863.77 0/1 99 67 35 32 0.48 intronic rs7500756 HYDIN AR NM_001198543 exon11 c.98149+3310G>A Uncertain 16_71167220_C->G 16 71167220 71167220 C G snp 2678.77 0/1 99 246 128 118 0.48 intronic rs2040830 HYDIN AR NM_001198543 exon11 c.98149+3494C>G Uncertain 16_71167349_G->C 16 71167349 71167349 G C snp 433.77 0/1 99 27 14 13 0.48 intronic rs979209 HYDIN AR NM_001198543 exon11 c.98149+3623G>C Uncertain 16_71170981_A->G 16 71170981 71170981 A G snp 588.77 0/1 99 35 17 18 0.51 intronic rs3094838 HYDIN AR NM_001198543 exon12 c.105476-72A>G Uncertain 16_71171402_A->G 16 71171402 71171402 A G snp 37.77 0/1 64 4 2 2 0.5 intronic rs3094839 HYDIN AR NM_001198543 exon12 c.105678+147A>G Uncertain 16_71186445_C->G 16 71186445 71186445 C G snp 330.77 0/1 99 26 15 11 0.42 intronic rs3094867 HYDIN AR NM_001198543 exon13 c.120984-116C>G Uncertain 16_71186740_C->T 16 71186740 71186740 C T snp 1863.77 0/1 99 107 39 68 0.64 intronic rs3094868 HYDIN AR NM_001198543 exon13 c.121109+54C>T Uncertain 16_71186834_C->G 16 71186834 71186834 C G snp 448.77 0/1 99 19 6 13 0.68 intronic rs3094869 HYDIN AR NM_001198543 exon13 c.121109+148C>G Uncertain 16_71186860_T->C 16 71186860 71186860 T C snp 149.77 0/1 61 7 2 5 0.71 intronic rs3114614 HYDIN AR NM_001198543 exon13 c.121109+174T>C Uncertain 16_71196410_G->A 16 71196410 71196410 G A snp 1589.77 0/1 99 133 71 62 0.47 intronic rs6499485 HYDIN AR NM_001198543 exon14 c.130856-23G>A Uncertain 16_71212979_T->C 16 71212979 71212979 T C snp 364.77 0/1 99 23 11 12 0.52 intronic rs2158102 HYDIN AR NM_001198543 exon16 c.147373+29T>C 0.403754 0.5804 0.324869 0.3780 0.5930 Uncertain 16_71218926_T->A 16 71218926 71218926 T A snp 948.77 0/1 99 70 35 35 0.5 intronic rs3785347 HYDIN AR NM_001198543 exon17 c.153316+33T>A 0.773962 0.7778 0.689058 0.6558 0.7931 Uncertain 16_71219021_C->T 16 71219021 71219021 C T snp 83.77 0/1 67 5 2 3 0.6 intronic rs3785346 HYDIN AR NM_001198543 exon17 c.153316+128C>T 0.403155 0.5804 Uncertain 16_71220880_T->C 16 71220880 71220880 T C snp 532.77 0/1 99 42 24 18 0.43 intronic rs12927616 HYDIN AR NM_001198543 exon18 c.155244+59T>C 0.774561 0.7788 Uncertain 16_71237587_T->C 16 71237587 71237587 T C snp 719.77 0/1 99 69 36 33 0.48 intronic rs1895528 HYDIN AR NM_001198543 exon18 c.155244+16766T>C 0.405152 0.5813 0.3746 0.6212 Uncertain 16_71237702_C->T 16 71237702 71237702 C T snp 616.77 0/1 99 68 42 26 0.38 intronic rs764600 HYDIN AR NM_001198543 exon18 c.155244+16881C>T 0.412939 0.5813 0.3747 0.6212 0 D 0.0 P -0.909 T Uncertain 16_71264399_G->C 16 71264399 71264399 G C snp 1513.77 0/1 99 128 69 59 0.46 intronic rs3743954 HYDIN AR NM_017558 exon20 c.202972-65G>C 0.404553 0.5823 Uncertain 16_71264523_T->A 16 71264523 71264523 T A snp 2800.77 0/1 99 233 114 119 0.51 UTR5 rs12449210 HYDIN AR 0.405351 0.5813 0.3730 0.6337 Uncertain 16_71264561_A->G 16 71264561 71264561 A G snp 2149.77 0/1 99 186 92 94 0.51 UTR5 rs3743953 HYDIN AR 0.163738 0.2768 0.1377 0.3267 0.001 P Uncertain 16_71318577_T->C 16 71318577 71318577 T C snp 3603.77 1/1 99 127 0 127 1.0 exonic rs3803704 CMTR2 AU nonsynonymous SNV NM_001099642 exon3 c.A1247G p.N416S 0.277955 0.2103 0.253512 0.2804 0.2456 0.64 T 0.357 P -0.920 T 0.001 T 0.002 T Pathogenic 16_71319539_C->T 16 71319539 71319539 C T snp 5823.77 1/1 99 210 0 210 1.0 exonic rs3826247 CMTR2 AU synonymous SNV NM_001099642 exon3 c.G285A p.A95A 0.462061 0.245 0.567482 0.5864 0.2730 Uncertain 16_71319646_G->A 16 71319646 71319646 G A snp 4521.77 1/1 99 147 0 147 1.0 exonic rs3096380 CMTR2 AU nonsynonymous SNV NM_001099642 exon3 c.C178T p.L60F 0.926318 0.8284 0.961911 0.9463 0.8360 1 T 0.000 P -0.966 T 0.0 T 0.0 T Pathogenic 16_71319900_T->C 16 71319900 71319900 T C snp 976.77 1/1 72 30 0 30 1.0 intronic rs9928675 CMTR2 AU NM_018348 exon1 c.2332+58T>C 0.277556 0.2093 Uncertain 16_71406024_C->T 16 71406024 71406024 C T snp 1392.77 0/1 99 131 63 68 0.52 intronic rs7203012 CALB2 AU NM_001740 exon2 c.13360-31C>T 0.362819 0.2907 0.380600 0.3902 0.3253 Uncertain 16_71406249_A->T 16 71406249 71406249 A T snp 182.77 0/1 99 18 9 9 0.5 intronic rs8061026 CALB2 AU NM_001740 exon2 c.13437+117A>T 0.298522 0.2431 Uncertain 16_71408475_T->G 16 71408475 71408475 T G snp 400.77 0/1 99 23 11 12 0.52 intronic rs12444419 CALB2 AU NM_001740 exon3 c.15952-172T>G 0.278355 0.255 Uncertain 16_71408527_A->G 16 71408527 71408527 A G snp 1541.77 0/1 99 90 34 56 0.62 intronic rs8046337 CALB2 AU NM_001740 exon3 c.15952-120A>G 0.285343 0.2569 Uncertain 16_71411446_G->T 16 71411446 71411446 G T snp 1469.77 1/1 99 43 0 43 1.0 intronic rs12445308 CALB2 AU NM_001740 exon4 c.18874-123G>T 0.803315 0.5516 Uncertain 16_71416431_T->C 16 71416431 71416431 T C snp 299.78 1/1 24 9 0 9 1.0 intronic rs12919213 CALB2 AU NM_001740 exon5 c.23926-190T>C 0.824281 0.5665 Uncertain 16_71417763_A->G 16 71417763 71417763 A G snp 1161.77 0/1 99 91 42 49 0.54 intronic rs12597011 CALB2 AU NM_001740 exon7 c.25177-109A>G 0.18111 0.2788 Uncertain 16_71418291_T->C 16 71418291 71418291 T C snp 1316.77 0/1 99 128 66 62 0.48 intronic rs41280904 CALB2 AU NM_001740 exon8 c.25586+10T>C 0.0904553 0.0427 0.144682 0.1524 0.0337 Uncertain 16_71418573_A->C 16 71418573 71418573 A C snp 417.77 1/1 33 13 0 13 1.0 intronic rs150813562 CALB2 AU NM_001740 exon9 c.25990-112A>C 0.526358 0.5288 Uncertain 16_71418578_C->A 16 71418578 71418578 C A snp 348.78 1/1 27 13 2 11 0.85 intronic rs140901596 CALB2 AU NM_001740 exon9 c.25990-107C>A Uncertain 16_71418582_T->C 16 71418582 71418582 T C snp 383.77 1/1 30 13 0 13 1.0 intronic rs144836690 CALB2 AU NM_001740 exon9 c.25990-103T>C Uncertain 16_71418587_CATG->- 16 71418587 71418590 CATG - indel 874.73 1/1 39 13 0 13 1.0 intronic rs144263868 CALB2 AU NM_001740 exon9 c.25990-98_25990-95delCATG Uncertain 16_71419252_C->T 16 71419252 71419252 C T snp 58.77 0/1 87 8 5 3 0.38 intronic rs41280905 CALB2 AU NM_001740 exon10 c.26784-227C>T 0.212859 0.249 Uncertain 16_71419595_A->G 16 71419595 71419595 A G snp 1143.77 1/1 84 40 0 40 1.0 intronic rs4327058 CALB2 AU NM_001740 exon10 c.26856+44A>G 0.692492 0.5427 0.739920 0.7362 0.5986 Uncertain 16_71509685_C->G 16 71509685 71509685 C G snp 1165.77 0/1 99 96 46 50 0.52 exonic rs2288489 ZNF19 AU synonymous SNV NM_006961 exon6 c.G765C p.T255T 0.785543 0.6042 0.851416 0.7836 0.5655 Uncertain 16_71509796_C->G 16 71509796 71509796 C G snp 1481.77 0/1 99 138 77 61 0.44 exonic ZNF19 AU nonsynonymous SNV NM_006961 exon6 c.G654C p.Q218H 0.653954 0.6012 0.660357 0.6616 0.5607 0.02 T 0.000 P -0.932 T 0.938 T 0.754 D Pathogenic 16_71570669_A->G 16 71570669 71570669 A G snp 2045.77 0/1 99 200 115 85 0.42 exonic CHST4 AU nonsynonymous SNV NM_001166395 exon2 c.A89G p.N30S 0.67 T 1 N -0.129 T 0.008 T 0.002 T Pathogenic 16_71610373_G->A 16 71610373 71610373 G A snp 219.77 0/1 99 31 22 9 0.29 intronic rs77782537 TAT AR NM_000353 exon11 c.8284+43G>A 0.0289537 0.1399 Uncertain 16_71660115_G->C 16 71660115 71660115 G C snp 2728.77 1/1 99 108 0 108 1.0 UTR5 rs4788820 MARVELD3 AU 0.88738 0.9911 0.872356 0.8870 0.9815 Uncertain 16_71660310_G->A 16 71660310 71660310 G A snp 688.77 1/1 51 20 0 20 1.0 exonic rs4788821 MARVELD3 AU nonsynonymous SNV NM_001017967 exon1 c.G178A p.E60K 0.413738 0.7421 0.273731 0.3567 0.7352 0.48 T 1.000 P -0.938 T 0.299 T 0.017 T Pathogenic 16_71668634_T->G 16 71668634 71668634 T G snp 3541.77 1/1 99 128 0 128 1.0 exonic rs12932850 MARVELD3 AU synonymous SNV NM_052858 exon3 c.T1134G p.A378A 0.313404 0.3917 0.7400 Uncertain 16_71668800_G->A 16 71668800 71668800 G A snp 1581.77 1/1 99 54 0 54 1.0 UTR3 rs7206470 MARVELD3 AU 0.886182 0.9901 Uncertain 16_71674882_C->G 16 71674882 71674882 C G snp 7323.77 1/1 99 246 0 246 1.0 exonic rs2303225 MARVELD3 AU synonymous SNV NM_001017967 exon3 c.C1185G p.P395P 0.403554 0.6835 0.310865 0.3900 0.6903 0.11 T 0.0 P -0.931 T Likely benign 16_71678663_T->C 16 71678663 71678663 T C snp 2510.77 1/1 99 95 0 95 1.0 downstream rs3752681 PHLPP2 AU 0.417133 0.7391 0.320370 0.4132 0.7354 Uncertain 16_71678679_G->C 16 71678679 71678679 G C snp 2647.77 1/1 99 104 0 104 1.0 downstream rs7204608 PHLPP2 AU 0.8781 0.9886 Uncertain 16_71692443_A->G 16 71692443 71692443 A G snp 3004.77 1/1 99 93 0 93 1.0 intronic rs2303224 PHLPP2 AU NM_015020 exon6 c.9763-112A>G 0.416334 0.7361 Uncertain 16_71697752_T->C 16 71697752 71697752 T C snp 1227.77 1/1 87 45 0 45 1.0 intronic rs1035545 PHLPP2 AU NM_015020 exon7 c.15009-49T>C 0.41873 0.7599 0.316020 0.3974 0.7538 Uncertain 16_71701248_G->A 16 71701248 71701248 G A snp 2111.77 1/1 99 75 0 75 1.0 intronic rs1423983 PHLPP2 AU NM_015020 exon8 c.18444+12G>A 0.898163 0.9911 0.831410 0.8772 0.9884 Uncertain 16_71703436_T->G 16 71703436 71703436 T G snp 2289.77 1/1 99 74 0 74 1.0 intronic rs2032918 PHLPP2 AU NM_015020 exon9 c.20481+163T>G 0.90016 0.9911 Uncertain 16_71718366_C->T 16 71718366 71718366 C T snp 1365.77 1/1 96 54 0 54 1.0 intronic rs7195059 PHLPP2 AU NM_015020 exon15 c.35586-12C>T 0.908546 0.9911 0.840028 0.8799 0.9887 Uncertain 16_71732795_C->G 16 71732795 71732795 C G snp 174.9 1/1 15 5 0 5 1.0 intronic rs12926987 PHLPP2 AU NM_015020 exon17 c.53708-3705C>G 0.416134 0.7619 Uncertain 16_71757939_C->G 16 71757939 71757939 C G snp 332.78 1/1 27 9 0 9 1.0 intronic rs7201649 PHLPP2 AU NM_015020 exon19 c.75439-292C>G 0.901558 0.9911 Uncertain 16_71768500_T->C 16 71768500 71768500 T C snp 3702.77 1/1 99 131 0 131 1.0 intronic rs2278031 AP1G1 AU NM_001128 exon2 c.1551-11T>C 0.422923 0.7609 0.320945 0.3940 0.7543 Uncertain 16_71772795_G->A 16 71772795 71772795 G A snp 749.77 1/1 57 22 0 22 1.0 intronic rs904764 AP1G1 AU NM_001128 exon3 c.5884-49G>A 0.922524 0.9901 0.852647 0.8237 0.9247 Uncertain 16_71773284_-->A 16 71773284 71773284 - A indel 1490.73 1/1 99 38 0 38 1.0 intronic rs3838874 AP1G1 AU NM_001128 exon4 c.6284+40insA 0.422324 0.7609 0.317332 0.4031 0.7575 Uncertain 16_71780485_G->A 16 71780485 71780485 G A snp 3197.84 1/1 99 117 0 117 1.0 splicing rs2270832 AP1G1 AU NM_001128 exon7 c.13530-5G>A 0.422125 0.7609 0.318252 0.3937 0.7519 Pathogenic 16_71780599_T->C 16 71780599 71780599 T C snp 2252.77 1/1 99 81 0 81 1.0 splicing rs2270831 AP1G1 AU NM_001128 exon7 c.13635+4T>C 0.422724 0.7609 0.319560 0.3952 0.7535 Pathogenic 16_71783658_C->T 16 71783658 71783658 C T snp 795.77 0/1 99 61 31 30 0.49 intronic rs62056460 AP1G1 AU NM_001128 exon9 c.16836-138C>T 0.134385 0.2192 Uncertain 16_71790166_G->A 16 71790166 71790166 G A snp 224.84 0/1 18 8 1 7 0.88 intronic rs8053186 AP1G1 AU NM_001128 exon12 c.23102+104G>A 0.913738 0.9911 Uncertain 16_71792208_T->C 16 71792208 71792208 T C snp 1395.77 1/1 99 49 0 49 1.0 intronic rs7185997 AP1G1 AU NM_001128 exon13 c.25750-502T>C 0.417931 0.7609 Uncertain 16_71800384_T->A 16 71800384 71800384 T A snp 1324.77 1/1 93 50 0 50 1.0 intronic rs12930206 AP1G1 AU NM_001030007 exon18 c.33388+36T>A 0.355032 0.7629 0.3210 0.7492 Uncertain 16_71801594_G->C 16 71801594 71801594 G C snp 297.78 1/1 24 9 0 9 1.0 intronic rs12920243 AP1G1 AU NM_001030007 exon18 c.33388+1246G>C 0.417332 0.7599 Uncertain 16_71804956_C->G 16 71804956 71804956 C G snp 2096.77 1/1 99 82 0 82 1.0 intronic rs9635524 AP1G1 AU NM_001128 exon19 c.38098-102C>G 0.902556 0.9911 Uncertain 16_71805160_G->A 16 71805160 71805160 G A snp 776.77 1/1 57 25 0 25 1.0 splicing rs4788443 AP1G1 AU NM_001128 exon19 c.38195+5G>A 0.913738 0.9901 0.827918 0.8695 0.9752 Pathogenic 16_71879809_C->G 16 71879809 71879809 C G snp 70.77 0/1 99 11 7 4 0.36 upstream rs79388947 ATXN1L AU 0.0297524 0.1419 Uncertain 16_71879868_A->C 16 71879868 71879868 A C snp 1313.77 1/1 96 38 0 38 1.0 upstream rs4788563 ATXN1L AU 0.865615 0.9782 Uncertain 16_71885423_A->G 16 71885423 71885423 A G snp 2454.77 0/1 99 215 109 106 0.49 exonic rs61747555 ATXN1L AU nonsynonymous SNV NM_001137675 exon3 c.A1780G p.S594G 0.169329 0.2927 0.152431 0.1937 0.2994 0.4 T 0.778 P -0.953 T 0.0 T 0.001 T Pathogenic 16_71897926_T->C 16 71897926 71897926 T C snp 56.74 1/1 6 2 0 2 1.0 intronic rs2335714 ZNF821 AU NM_001201553 exon3 c.4120-114T>C 0.865815 0.9782 Uncertain 16_71913649_TTTC->- 16 71913649 71913652 TTTC - indel 1903.73 0/1 99 59 25 34 0.58 intronic rs137940498 ZNF821 AU NM_001201553 exon6 c.19889-160_19889-157delTTTC 0.0305511 0.1458 Uncertain 16_71917058_G->A 16 71917058 71917058 G A snp 2935.77 1/1 99 112 0 112 1.0 intronic rs2288029 ZNF821 AU NM_001201553 exon7 c.23193-55G>A 0.866214 0.9782 0.8315 0.9845 Uncertain 16_71928850_T->C 16 71928850 71928850 T C snp 1881.77 1/1 99 62 0 62 1.0 intronic rs11075908 IST1 AU NM_001270976 exon2 c.24+89T>C 0.785942 0.9782 Uncertain 16_71951094_G->T 16 71951094 71951094 G T snp 3023.77 1/1 99 111 0 111 1.0 intronic rs7350856 IST1 AU NM_014761 exon4 c.1494+57G>T 0.392971 0.6567 0.302234 Uncertain 16_71955400_T->G 16 71955400 71955400 T G snp 2290.77 1/1 99 86 0 86 1.0 intronic rs4788450 IST1 AU NM_014761 exon6 c.5813+44T>G 0.657548 0.9286 0.479301 0.5771 0.9276 Uncertain 16_71955426_-->AT 16 71955426 71955426 - AT indel 3763.73 1/1 99 76 0 76 1.0 intronic rs397757979 IST1 AU NM_014761 exon6 c.5813+70insAT 0.868211 0.9792 Uncertain 16_71956592_-->AGTGTG 16 71956592 71956592 - AGTGTG indel 12263.7 1/1 99 227 0 227 1.0 intronic rs75418123 IST1 AU NM_014761 exon7 c.7040+9insAGTGTG Uncertain 16_71956593_T->G 16 71956593 71956593 T G snp 4912.77 0/1 99 218 29 189 0.87 intronic IST1 AU NM_014761 exon7 c.7040+10T>G Uncertain 16_71956596_A->G 16 71956596 71956596 A G snp 4964.77 0/1 99 217 28 189 0.87 intronic rs2335708 IST1 AU NM_014761 exon7 c.7040+13A>G 0.327276 0.502 0.2363 0.4443 Uncertain 16_71956597_A->T 16 71956597 71956597 A T snp 4920.77 0/1 99 217 29 188 0.87 intronic rs2335707 IST1 AU NM_014761 exon7 c.7040+14A>T 0.327276 0.502 0.2290 0.4268 Uncertain 16_71961339_T->C 16 71961339 71961339 T C snp 86.28 1/1 9 3 0 3 1.0 intronic rs3794692 IST1 AU NM_014761 exon10 c.11973-177T>C 0.869209 0.9861 Uncertain 16_71961390_A->- 16 71961390 71961390 A - indel 375.73 1/1 41 21 1 20 0.95 intronic rs34382355 IST1 AU NM_014761 exon10 c.11973-126delA 0.364018 0.5347 Uncertain 16_71981414_-->TTTG 16 71981414 71981414 - TTTG indel 7631.73 1/1 99 117 0 117 1.0 exonic rs149635567 PKD1L3 AU unknown 0.682133 0.7818 0.9598 Uncertain 16_71981630_T->G 16 71981630 71981630 T G snp 549.77 1/1 42 18 0 18 1.0 intronic rs9934803 PKD1L3 AU NM_181536 exon9 c.18050+140T>G 0.785743 0.9772 Uncertain 16_71981652_T->G 16 71981652 71981652 T G snp 312.78 1/1 24 11 0 11 1.0 intronic rs9934812 PKD1L3 AU NM_181536 exon9 c.18050+162T>G 0.785743 0.9772 Uncertain 16_71983592_C->T 16 71983592 71983592 C T snp 54.74 1/1 6 2 0 2 1.0 intronic rs117405740 PKD1L3 AU NM_181536 exon10 c.20241-89C>T 0.00758786 0.0327 Uncertain 16_71983772_G->C 16 71983772 71983772 G C snp 2086.77 1/1 99 79 0 79 1.0 exonic rs1035543 PKD1L3 AU unknown 0.39397 0.6597 0.310556 0.3321 0.6720 Uncertain 16_71986764_G->A 16 71986764 71986764 G A snp 176.9 1/1 15 6 0 6 1.0 intronic rs11648353 PKD1L3 AU NM_181536 exon13 c.23352-28G>A 0.78734 0.9752 0.696452 0.7849 0.9509 Uncertain 16_71986946_A->G 16 71986946 71986946 A G snp 2356.77 1/1 99 87 0 87 1.0 exonic rs7204708 PKD1L3 AU unknown 0.842053 0.9762 0.761060 0.8052 0.9628 Uncertain 16_71986995_G->A 16 71986995 71986995 G A snp 2176.77 1/1 99 81 0 81 1.0 splicing rs12708919 PKD1L3 AU NM_181536 exon13 c.23552+3G>A 0.602236 0.9315 0.430355 0.5701 0.9194 Pathogenic 16_71987960_A->C 16 71987960 71987960 A C snp 755.77 1/1 57 25 0 25 1.0 intronic rs9888745 PKD1L3 AU NM_181536 exon14 c.24563-43A>C 0.580471 0.9246 0.4700 0.8895 Uncertain 16_71988106_C->T 16 71988106 71988106 C T snp 3395.77 1/1 99 129 0 129 1.0 exonic rs9921412 PKD1L3 AU unknown 0.787141 0.9752 0.698861 0.7814 0.9618 Uncertain 16_71988220_G->A 16 71988220 71988220 G A snp 2325.77 1/1 99 80 0 80 1.0 intronic rs9921705 PKD1L3 AU NM_181536 exon14 c.24760+20G>A 0.353035 0.6339 0.222952 0.2825 0.6576 Uncertain 16_72001136_G->A 16 72001136 72001136 G A snp 2823.77 1/1 99 101 0 101 1.0 exonic rs4788587 PKD1L3 AU unknown 0.263379 0.4058 0.205431 0.2376 0.4019 Uncertain 16_72007399_C->T 16 72007399 72007399 C T snp 2168.77 1/1 99 87 0 87 1.0 exonic rs9925415 PKD1L3 AU unknown 0.514377 0.4504 0.575339 0.5161 0.4463 Uncertain 16_72007571_C->T 16 72007571 72007571 C T snp 128.03 1/1 12 4 0 4 1.0 intronic rs9927573 PKD1L3 AU NM_181536 exon19 c.43976+155C>T 0.513379 0.4504 Uncertain 16_72011040_A->G 16 72011040 72011040 A G snp 917.77 1/1 66 32 0 32 1.0 intronic rs3929023 PKD1L3 AU NM_181536 exon20 c.47694-94A>G 0.755192 0.746 Uncertain 16_72011181_G->T 16 72011181 72011181 G T snp 3025.77 1/1 99 109 0 109 1.0 exonic rs1559401 PKD1L3 AU unknown 0.755192 0.746 0.774858 0.8071 0.6977 Uncertain 16_72011193_A->C 16 72011193 72011193 A C snp 2941.77 1/1 99 103 0 103 1.0 exonic rs1559400 PKD1L3 AU unknown 0.755192 0.746 0.774858 0.8067 0.6994 Uncertain 16_72011261_A->G 16 72011261 72011261 A G snp 3244.77 1/1 99 113 0 113 1.0 exonic rs1559399 PKD1L3 AU unknown 0.776158 0.746 0.793035 0.8130 0.6994 Uncertain 16_72011450_G->A 16 72011450 72011450 G A snp 719.77 1/1 54 22 0 22 1.0 intronic rs1559398 PKD1L3 AU NM_181536 exon20 c.47926+84G>A 0.755192 0.746 Uncertain 16_72011456_-->GTCTTC 16 72011456 72011456 - GTCTTC indel 1229.73 1/1 51 18 0 18 1.0 intronic rs139541803 PKD1L3 AU NM_181536 exon20 c.47926+90insGTCTTC 0.772165 0.745 Uncertain 16_72012072_C->T 16 72012072 72012072 C T snp 1516.77 1/1 99 40 0 40 1.0 intronic rs8053841 PKD1L3 AU NM_181536 exon21 c.48713-81C>T 0.755591 0.748 Uncertain 16_72012396_A->G 16 72012396 72012396 A G snp 252.8 1/1 21 8 0 8 1.0 intronic rs2113217 PKD1L3 AU NM_181536 exon21 c.48842+114A>G 0.750399 0.7312 Uncertain 16_72012398_A->G 16 72012398 72012398 A G snp 224.84 1/1 18 6 0 6 1.0 intronic rs2878405 PKD1L3 AU NM_181536 exon21 c.48842+116A>G 0.727037 0.7153 Uncertain 16_72012400_A->G 16 72012400 72012400 A G snp 224.84 1/1 18 6 0 6 1.0 intronic rs62053844 PKD1L3 AU NM_181536 exon21 c.48842+118A>G 0.710264 0.7063 Uncertain 16_72012402_A->G 16 72012402 72012402 A G snp 162.78 0/1 24 6 1 5 0.83 intronic rs62053845 PKD1L3 AU NM_181536 exon21 c.48842+120A>G 0.682308 0.6815 Uncertain 16_72012404_A->G 16 72012404 72012404 A G snp 164.78 0/1 24 6 1 5 0.83 intronic rs62053846 PKD1L3 AU NM_181536 exon21 c.48842+122A>G 0.896765 0.8363 Uncertain 16_72012416_ATATAC->- 16 72012416 72012421 ATATAC - indel 295.87 1/1 15 6 0 6 1.0 intronic rs370179214 PKD1L3 AU NM_181536 exon21 c.48842+134_48842+139delATATAC Uncertain 16_72013539_T->C 16 72013539 72013539 T C snp 628.77 1/1 48 16 0 16 1.0 intronic rs9302633 PKD1L3 AU NM_181536 exon22 c.50244-145T>C 0.754992 0.746 Uncertain 16_72013797_G->C 16 72013797 72013797 G C snp 7099.77 1/1 99 250 0 250 1.0 exonic rs7185272 PKD1L3 AU unknown 0.755192 0.746 0.774639 0.8077 0.6987 Uncertain 16_72018099_C->T 16 72018099 72018099 C T snp 1237.77 1/1 90 45 0 45 1.0 intronic rs12443563 PKD1L3 AU NM_181536 exon25 c.54626+33C>T 0.757788 0.746 0.779895 0.8097 0.7020 Uncertain 16_72019948_T->A 16 72019948 72019948 T A snp 341.78 1/1 27 10 0 10 1.0 intronic rs4788589 PKD1L3 AU NM_181536 exon26 c.56679-171T>A 0.757188 0.746 Uncertain 16_72020134_T->C 16 72020134 72020134 T C snp 4199.77 1/1 99 162 0 162 1.0 exonic rs12708923 PKD1L3 AU unknown 0.513179 0.4534 0.570083 0.5134 0.4476 Uncertain 16_72020294_G->A 16 72020294 72020294 G A snp 1426.77 1/1 99 51 0 51 1.0 exonic rs4788590 PKD1L3 AU unknown 0.757388 0.746 0.780333 0.8078 0.6971 Uncertain 16_72020323_A->G 16 72020323 72020323 A G snp 1141.77 1/1 84 40 0 40 1.0 exonic rs4788591 PKD1L3 AU unknown 0.775359 0.746 0.792597 0.8131 0.6990 Uncertain 16_72027314_T->C 16 72027314 72027314 T C snp 310.77 0/1 99 24 13 11 0.46 intronic rs188355699 PKD1L3 AU NM_181536 exon28 c.63791+83T>C 0.0479233 0.1518 Uncertain 16_72032231_T->A 16 72032231 72032231 T A snp 2409.77 1/1 99 101 0 101 1.0 exonic rs16973585 PKD1L3 AU unknown 0.430511 0.6954 0.328515 0.3245 0.7074 Uncertain 16_72033525_G->T 16 72033525 72033525 G T snp 44.77 0/1 73 36 30 6 0.17 intronic PKD1L3 AU NM_181536 exon30 c.70142-57G>T Uncertain 16_72042682_A->C 16 72042682 72042682 A C snp 1834.77 1/1 99 67 0 67 1.0 exonic rs3213422 DHODH AR nonsynonymous SNV NM_001361 exon1 c.A19C p.K7Q 0.564097 0.7381 0.544647 0.5190 0.7623 0.28 T 0.026 P -0.921 T 0.002 T 0.005 T CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000116875.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 16_72042825_T->G 16 72042825 72042825 T G snp 141.03 1/1 12 6 0 6 1.0 intronic rs3213423 DHODH AR NM_001361 exon1 c.21+141T>G 0.877596 0.9683 Uncertain 16_72046268_C->G 16 72046268 72046268 C G snp 906.77 1/1 69 30 0 30 1.0 intronic rs1465457 DHODH AR NM_001361 exon2 c.3498+107C>G 0.372604 0.6687 Uncertain 16_72048332_T->C 16 72048332 72048332 T C snp 953.77 1/1 69 30 0 30 1.0 intronic rs3764310 DHODH AR NM_001361 exon3 c.5708-39T>C 0.390575 0.6726 0.288281 0.3531 0.6960 Uncertain 16_72048632_A->G 16 72048632 72048632 A G snp 438.77 1/1 33 14 0 14 1.0 intronic rs8062895 DHODH AR NM_001361 exon3 c.5908+61A>G 0.373203 0.6726 Uncertain 16_72050885_G->C 16 72050885 72050885 G C snp 961.77 1/1 69 38 0 38 1.0 intronic rs11075914 DHODH AR NM_001361 exon4 c.8259-37G>C 1 1 0.999835 0.9999 1 Uncertain 16_72054928_C->T 16 72054928 72054928 C T snp 716.77 0/1 99 54 30 24 0.44 intronic rs118112818 DHODH AR NM_001361 exon5 c.12359-94C>T 0.0071885 0.0317 Uncertain 16_72123886_T->C 16 72123886 72123886 T C snp 134.03 1/1 12 4 0 4 1.0 intronic rs152828 TXNL4B AU NM_001142318 exon3 c.3981-630T>C 0.958466 0.9891 Uncertain 16_72139396_T->C 16 72139396 72139396 T C snp 2048.77 1/1 99 66 1 65 0.98 intronic rs150617 DHX38 AU NM_014003 exon18 c.9359-19T>C 0.958866 0.9891 0.922592 0.9216 0.9834 Uncertain 16_72139537_T->C 16 72139537 72139537 T C snp 2930.77 1/1 99 98 0 98 1.0 intronic rs42544 DHX38 AU NM_014003 exon18 c.9467+14T>C 0.989816 1 0.973992 0.9756 0.9999 Uncertain 16_72153518_G->A 16 72153518 72153518 G A snp 56.74 1/1 6 2 0 2 1.0 intronic rs186286 PMFBP1 AU NM_001160213 exon2 c.513-231G>A 0.973243 1 Uncertain 16_72160142_C->A 16 72160142 72160142 C A snp 93.28 1/1 9 3 0 3 1.0 intronic PMFBP1 AU NM_001160213 exon7 c.6795+111C>A Uncertain 16_72184629_C->T 16 72184629 72184629 C T snp 880.77 0/1 99 85 44 41 0.48 exonic rs217180 PMFBP1 AU nonsynonymous SNV NM_031293 exon5 c.G514A p.A172T 0.0858626 0.1736 0.063327 0.0898 0.1682 0.56 T 0.0 P -1.068 T 0.769 T 0.062 P Pathogenic 16_72821619_CCG->- 16 72821619 72821621 CCG - indel 5223.73 ./1 99 134 0 134 1.0 exonic rs751575363 ZFHX3 AU nonframeshift deletion NM_006885 exon10 c.10554_10556del p.3518_3519del 0.0759 0.3291 Uncertain 16_72821618_-->CCG 16 72821618 72821618 - CCG indel 5223.73 ./1 99 134 0 134 1.0 exonic rs757337999 ZFHX3 AU nonframeshift insertion NM_006885 exon10 c.10556_10557insCGG p.G3519delinsGG 0.0006 0.0015 Uncertain 16_72827758_T->C 16 72827758 72827758 T C snp 3155.77 1/1 99 107 1 106 0.99 exonic rs699444 ZFHX3 AU synonymous SNV NM_006885 exon9 c.A8823G p.G2941G 0.920727 0.998 0.881579 0.8771 0.9988 Uncertain 16_72828403_A->G 16 72828403 72828403 A G snp 2676.77 0/1 99 199 91 108 0.54 exonic rs2229286 ZFHX3 AU synonymous SNV NM_006885 exon9 c.T8178C p.L2726L 0.110423 0.2937 0.018621 0.0773 0.3318 Uncertain 16_72829630_A->G 16 72829630 72829630 A G snp 2798.77 0/1 99 193 78 115 0.6 exonic rs12599442 ZFHX3 AU synonymous SNV NM_006885 exon9 c.T6951C p.N2317N 0.0996406 0.2748 0.004617 0.0647 0.3121 Uncertain 16_72831652_G->A 16 72831652 72831652 G A snp 1007.77 0/1 99 79 36 43 0.54 exonic rs2229290 ZFHX3 AU synonymous SNV NM_006885 exon9 c.C4929T p.S1643S 0.0948482 0.2589 0.003693 0.0620 0.2953 Uncertain 16_72832135_T->A 16 72832135 72832135 T A snp 2606.77 1/1 99 90 0 90 1.0 exonic rs740178 ZFHX3 AU synonymous SNV NM_006885 exon9 c.A4446T p.A1482A 0.886182 0.9603 0.854801 0.8362 0.9689 Uncertain 16_72993831_A->C 16 72993831 72993831 A C snp 1207.77 0/1 99 126 75 51 0.4 exonic rs7193297 ZFHX3 AU nonsynonymous SNV NM_006885 exon2 c.T214G p.S72A 0.470447 0.2599 0.473904 0.4014 0.25 1 T 1.000 P -0.963 T 0.006 T 0.004 T Pathogenic 16_73126858_T->G 16 73126858 73126858 T G snp 4702.77 1/1 99 166 0 166 1.0 ncRNA_exonic rs7189194 HCCAT5 AU 0.996805 1 0.988878 0.9909 1 Uncertain 16_73517248_G->C 16 73517248 73517248 G C snp 784.8 1/1 21 30 2 28 0.93 intergenic rs1991048 LINC01568 AU 0.470048 0.8056 Uncertain 16_73517250_-->AG 16 73517250 73517250 - AG indel 1197.73 1/1 90 30 0 30 1.0 intergenic rs147828241 LINC01568 AU Uncertain 16_74333380_T->C 16 74333380 74333380 T C snp 293.77 0/1 99 31 17 14 0.45 intronic rs889641 PSMD7 AU NM_002811 exon2 c.3200-632T>C 0.335064 0.252 Uncertain 16_74371543_C->G 16 74371543 74371543 C G snp 1293.77 0/1 99 102 53 49 0.48 ncRNA_intronic rs72791060 LOC283922 AU 0.101637 0.1954 0.1129 0.2189 Uncertain 16_74384477_T->A 16 74384477 74384477 T A snp 2916.77 0/1 99 250 123 127 0.51 ncRNA_intronic rs28550604 LOC283922 AU 0.176518 0.2004 0.1888 0.2426 Uncertain 16_74385948_G->C 16 74385948 74385948 G C snp 2554.77 0/1 99 122 22 100 0.82 ncRNA_exonic rs574746617 LOC283922 AU 0.00179712 0.0089 0.0007 0.0079 Uncertain 16_74386326_G->A 16 74386326 74386326 G A snp 381.77 0/1 99 72 38 34 0.47 ncRNA_intronic rs201865114 LOC283922 AU 0.101637 0.1974 0.0773 0.1512 Uncertain 16_74425314_G->A 16 74425314 74425314 G A snp 179.96 0/1 5 9 1 8 0.89 intergenic rs7189061 LOC283922 AU 0.1466 0.3162 0.43 T 1 N -1.021 T 0.071 T 0.03 T Uncertain 16_74425358_G->A 16 74425358 74425358 G A snp 641.77 0/1 99 35 4 31 0.89 intergenic rs6564065 LOC283922 AU 0.510583 0.5833 0.4351 0.5345 1 T 0.0 P -1.036 T 0.0 T 0.006 T Uncertain 16_74425447_C->T 16 74425447 74425447 C T snp 635.77 0/1 99 143 105 38 0.27 intergenic rs918678 LOC283922 AU 0.064790 0.1020 0.1193 Uncertain 16_74425548_A->G 16 74425548 74425548 A G snp 4080.77 1/1 99 156 1 155 0.99 intergenic rs2868591 LOC283922 AU 0.635618 0.6317 0.6838 1 T 0.0 P -0.920 T 0.0 T 0.0 T Uncertain 16_74425569_C->T 16 74425569 74425569 C T snp 635.77 0/1 99 132 98 34 0.26 intergenic rs11641596 LOC283922 AU 0.376611 0.4496 0.4281 0.02 T 0.0 P -0.944 T 0.411 T 0.12 T Uncertain 16_74443401_T->C 16 74443401 74443401 T C snp 566.77 1/1 45 20 0 20 1.0 intronic rs62055231 CLEC18B AU NM_001011880 exon2 c.544-46T>C 0.0642 0.0312 Uncertain 16_74443433_C->G 16 74443433 74443433 C G snp 207.77 0/1 99 51 41 10 0.2 intronic rs62055232 CLEC18B AU NM_001011880 exon2 c.544-14C>G 0.2826 0.2531 Uncertain 16_74443668_T->C 16 74443668 74443668 T C snp 121.77 0/1 99 94 81 13 0.14 intronic CLEC18B AU NM_001011880 exon3 c.846-81T>C Uncertain 16_74443733_T->G 16 74443733 74443733 T G snp 366.77 1/1 33 13 0 13 1.0 intronic rs2549216 CLEC18B AU NM_001011880 exon3 c.846-16T>G 0.73722 0.7202 0.0280 0.0226 Uncertain 16_74447514_T->C 16 74447514 74447514 T C snp 796.77 0/1 99 104 60 44 0.42 exonic rs2650549 CLEC18B AU nonsynonymous SNV NM_001011880 exon4 c.A517G p.T173A 0.2598 0.3543 0.58 T 1 N -0.951 T 0.0 T 0.002 T Pathogenic 16_74451884_C->T 16 74451884 74451884 C T snp 90.28 1/1 9 7 4 3 0.43 intronic rs141132121 CLEC18B AU NM_001011880 exon11 c.9053-72C>T Uncertain 16_74485722_G->A 16 74485722 74485722 G A snp 82.77 0/1 96 7 3 4 0.57 UTR3 rs3851730 GLG1 AU 0.245008 0.1667 Uncertain 16_74486189_T->C 16 74486189 74486189 T C snp 77.77 0/1 28 4 1 3 0.75 UTR3 rs7978 GLG1 AU 0.357428 0.2153 Uncertain 16_74490789_G->A 16 74490789 74490789 G A snp 43.77 0/1 72 7 4 3 0.43 intronic rs12446054 GLG1 AU NM_001145667 exon2 c.3589+136G>A 0.239617 0.1657 Uncertain 16_74493752_-->T 16 74493752 74493752 - T indel 447.73 0/1 99 64 18 46 0.72 intronic rs71158515 GLG1 AU NM_001145667 exon4 c.6623+65insT Uncertain 16_74499589_G->A 16 74499589 74499589 G A snp 498.77 0/1 99 66 43 23 0.35 exonic rs2303275 GLG1 AU synonymous SNV NM_001145666 exon18 c.C2619T p.C873C 0.111821 0.1548 0.110803 0.1231 0.1677 Uncertain 16_74501856_C->G 16 74501856 74501856 C G snp 820.77 0/1 99 70 36 34 0.49 intronic rs6564117 GLG1 AU NM_001145667 exon9 c.14682+110C>G 0.730831 0.8304 Uncertain 16_74503031_G->T 16 74503031 74503031 G T snp 587.77 0/1 99 55 32 23 0.42 intronic rs2303277 GLG1 AU NM_001145667 exon10 c.15897+70G>T 0.116014 0.1567 Uncertain 16_74503860_T->A 16 74503860 74503860 T A snp 2640.77 0/1 99 231 118 113 0.49 intronic rs2303278 GLG1 AU NM_001145667 exon11 c.16818-22T>A 0.255591 0.1687 0.327562 0.3042 0.1860 Uncertain 16_74504005_T->C 16 74504005 74504005 T C snp 2293.77 0/1 99 182 89 93 0.51 intronic rs2303279 GLG1 AU NM_001145667 exon11 c.16907+34T>C 0.673522 0.6776 0.783164 0.6928 0.6618 Uncertain 16_74504052_-->TCT 16 74504052 74504052 - TCT indel 2385.73 0/1 99 104 49 55 0.53 intronic rs3217262 GLG1 AU NM_001145667 exon11 c.16907+81insTCT 0.122204 0.1577 Uncertain 16_74504097_G->C 16 74504097 74504097 G C snp 1327.77 1/1 96 39 0 39 1.0 intronic rs12716764 GLG1 AU NM_001145667 exon11 c.16907+126G>C 0.988818 1 Uncertain 16_74504985_A->T 16 74504985 74504985 A T snp 285.77 0/1 99 19 8 11 0.58 intronic rs35209570 GLG1 AU NM_001145667 exon12 c.18006-85A>T 0.109625 0.1577 Uncertain 16_74513985_C->T 16 74513985 74513985 C T snp 220.84 1/1 18 6 0 6 1.0 intronic rs918781 GLG1 AU NM_001145667 exon16 c.27074-153C>T 0.951078 1 Uncertain 16_74517155_A->G 16 74517155 74517155 A G snp 65.77 0/1 94 10 7 3 0.3 intronic rs2303281 GLG1 AU NM_001145667 exon17 c.29958+133A>G 0.745208 0.8313 Uncertain 16_74526752_G->A 16 74526752 74526752 G A snp 54.74 1/1 6 2 0 2 1.0 intronic rs2010910 GLG1 AU NM_001145667 exon20 c.39790-102G>A 0.990016 1 Uncertain 16_74530612_AC->- 16 74530612 74530613 AC - indel 312.73 0/1 87 39 6 33 0.85 intronic GLG1 AU NM_001145667 exon22 c.43478+70_43478+71delAC Uncertain 16_74537591_C->T 16 74537591 74537591 C T snp 2687.77 0/1 99 216 96 120 0.56 exonic rs4887772 GLG1 AU synonymous SNV NM_001145666 exon3 c.G579A p.L193L 0.729233 0.8313 0.658049 0.6823 0.8111 Uncertain 16_74662597_C->T 16 74662597 74662597 C T snp 450.77 0/1 99 26 9 17 0.65 intronic rs11149759 RFWD3 AU NM_018124 exon3 c.4739+33C>T 0.376597 0.372 0.248307 0.3115 0.3860 Uncertain 16_74664810_A->T 16 74664810 74664810 A T snp 1286.77 0/1 99 136 80 56 0.41 exonic rs7188880 RFWD3 AU synonymous SNV NM_018124 exon10 c.T1623A p.P541P 0.659345 0.7897 0.598184 0.5521 0.7580 Uncertain 16_74664969_T->A 16 74664969 74664969 T A snp 139.77 0/1 99 13 8 5 0.38 intronic rs7193959 RFWD3 AU NM_018124 exon4 c.7030+114T>A 0.772564 0.8333 Uncertain 16_74666634_G->C 16 74666634 74666634 G C snp 623.77 0/1 99 38 17 21 0.55 intronic rs4072450 RFWD3 AU NM_018124 exon5 c.8746+63G>C 0.775759 0.8452 Uncertain 16_74670458_C->T 16 74670458 74670458 C T snp 257.77 0/1 99 21 12 9 0.43 exonic rs4888262 RFWD3 AU synonymous SNV NM_018124 exon8 c.G1212A p.T404T 0.657348 0.7877 0.597876 0.5508 0.7556 Uncertain 16_74678722_A->- 16 74678722 74678722 A - indel 164.8 1/1 18 9 0 9 1.0 intronic rs398078752 RFWD3 AU NM_018124 exon9 c.20808+89delA 0.206669 0.3631 Uncertain 16_74686166_G->A 16 74686166 74686166 G A snp 83.77 0/1 69 6 2 4 0.67 intronic rs9923145 RFWD3 AU NM_018124 exon11 c.28195+146G>A 0.657548 0.7917 Uncertain 16_74695079_G->T 16 74695079 74695079 G T snp 2261.77 0/1 99 228 135 93 0.41 exonic rs8058922 RFWD3 AU nonsynonymous SNV NM_018124 exon2 c.C269A p.T90N 0.788139 0.8343 0.724685 0.7139 0.8143 1 T 0.0 P -0.969 T 0.0 T 0.0 T Pathogenic 16_74706298_A->T 16 74706298 74706298 A T snp 1159.77 0/1 99 80 32 48 0.6 UTR3 rs4888274 MLKL AU 0.647963 0.7907 Uncertain 16_74712905_A->T 16 74712905 74712905 A T snp 507.77 0/1 99 42 20 22 0.52 intronic rs6564158 MLKL AU NM_152649 exon5 c.6477+27A>T 0.663538 0.7649 0.611881 0.6414 0.7365 Uncertain 16_74719687_C->G 16 74719687 74719687 C G snp 117.78 0/1 27 5 1 4 0.8 intronic rs4888276 MLKL AU NM_152649 exon7 c.13080+206C>G 0.315495 0.4444 Uncertain 16_74750405_G->A 16 74750405 74750405 G A snp 5273.77 1/1 99 199 0 199 1.0 exonic rs2301865 FA2H AR synonymous SNV NM_024306 exon6 c.C879T p.P293P 0.72524 0.6478 0.781163 0.7732 0.6609 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000117012.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 16_74760293_T->- 16 74760293 74760293 T - indel 109.87 1/1 15 8 0 8 1.0 intronic rs11295057 FA2H AR NM_024306 exon4 c.12142+64delT 0.804513 0.6925 Uncertain 16_74908439_C->T 16 74908439 74908439 C T snp 2447.77 1/1 99 85 0 85 1.0 intronic rs2870148 WDR59 AU NM_030581 exon1 c.236+97C>T 0.951278 1 Uncertain 16_74920374_C->T 16 74920374 74920374 C T snp 216.84 1/1 18 6 0 6 1.0 intronic rs4888305 WDR59 AU NM_030581 exon3 c.12188+80C>T 0.935903 1 Uncertain 16_74922016_AA->- 16 74922016 74922017 AA - indel 307.73 0/1 99 32 10 22 0.69 intronic rs758194040 WDR59 AU NM_030581 exon5 c.13960-50_13960-49delAA Uncertain 16_74923410_A->T 16 74923410 74923410 A T snp 303.78 1/1 24 8 0 8 1.0 intronic rs8049858 WDR59 AU NM_030581 exon6 c.15494-190A>T 0.964457 1 Uncertain 16_74943867_-->T 16 74943867 74943867 - T indel 164.82 0/1 28 43 5 38 0.88 intronic rs113238843 WDR59 AU NM_030581 exon12 c.35709+52insT 0.519369 0.5109 0.4304 0.4012 Uncertain 16_74943890_A->G 16 74943890 74943890 A G snp 461.77 1/1 39 20 0 20 1.0 intronic rs12325318 WDR59 AU NM_030581 exon12 c.35709+75A>G 0.991014 1 Uncertain 16_74985516_T->A 16 74985516 74985516 T A snp 2370.77 1/1 99 92 0 92 1.0 intronic rs3743921 WDR59 AU NM_030581 exon23 c.77335+75T>A 0.663139 0.756 Uncertain 16_74990545_C->T 16 74990545 74990545 C T snp 512.77 0/1 99 63 38 25 0.4 intronic rs201871399 WDR59 AU NM_030581 exon24 c.82402+37C>T 0.000199681 0.001 0.0003 0.0043 Uncertain 16_74999617_A->C 16 74999617 74999617 A C snp 6061.77 1/1 99 223 0 223 1.0 intronic rs4888324 WDR59 AU NM_030581 exon25 c.91564-53A>C 0.644569 0.756 0.523434 Uncertain 16_74999625_A->T 16 74999625 74999625 A T snp 6450.77 1/1 99 243 0 243 1.0 intronic rs4887796 WDR59 AU NM_030581 exon25 c.91564-45A>T 0.644968 0.756 0.534934 0.5309 0.7566 Uncertain 16_75034133_A->G 16 75034133 75034133 A G snp 7214.77 1/1 99 250 0 250 1.0 intronic rs6564195 ZNRF1 AU NM_032268 exon1 c.424+140A>G 0.947284 1 0.9876 1 Uncertain 16_75138927_A->G 16 75138927 75138927 A G snp 2019.77 1/1 99 67 0 67 1.0 intronic rs2287989 ZNRF1 AU NM_032268 exon3 c.105218+140A>G 0.703674 0.7976 Uncertain 16_75149619_C->T 16 75149619 75149619 C T snp 605.77 1/1 45 18 0 18 1.0 intronic rs13330129 LDHD AU NM_153486 exon10 c.3305+61C>T 0.258786 0.5744 Uncertain 16_75186727_G->A 16 75186727 75186727 G A snp 4152.77 1/1 99 144 0 144 1.0 intronic rs11859007 ZFP1 AU 0.74361 0.8016 Uncertain 16_75200378_T->C 16 75200378 75200378 T C snp 341.78 1/1 27 10 0 10 1.0 intronic rs9929570 ZFP1 AU NM_153688 exon3 c.13818-289T>C 0.922724 0.8194 Uncertain 16_75200407_G->C 16 75200407 75200407 G C snp 464.77 1/1 36 16 0 16 1.0 intronic rs11865310 ZFP1 AU NM_153688 exon3 c.13818-260G>C 0.744609 0.8105 Uncertain 16_75200416_T->C 16 75200416 75200416 T C snp 570.77 1/1 42 19 0 19 1.0 intronic rs7200789 ZFP1 AU NM_153688 exon3 c.13818-251T>C 0.922724 0.8194 Uncertain 16_75202998_A->C 16 75202998 75202998 A C snp 816.77 1/1 60 28 0 28 1.0 intronic rs12716783 ZFP1 AU NM_153688 exon4 c.16301-152A>C 0.748003 0.8135 Uncertain 16_75204282_C->A 16 75204282 75204282 C A snp 30.77 0/1 59 8 6 2 0.25 UTR3 rs764551 ZFP1 AU 0.242412 0.629 0.082370 0.1698 0.6288 Uncertain 16_75238103_C->T 16 75238103 75238103 C T snp 4212.77 1/1 99 164 0 164 1.0 exonic rs4737 CTRB2 AU nonsynonymous SNV NM_001025200 exon7 c.G748A p.A250T 0.828874 0.998 0.754463 0.8474 0.9977 1 T 0.000 P -0.906 T 0.0 T 0.001 T Pathogenic 16_75263974_T->C 16 75263974 75263974 T C snp 1140.77 1/1 84 40 0 40 1.0 intronic rs6564241 BCAR1 AU NM_014567 exon1 c.513+53T>C 0.939297 0.996 Uncertain 16_75267676_A->G 16 75267676 75267676 A G snp 904.77 1/1 66 27 0 27 1.0 intronic rs4888361 BCAR1 AU NM_014567 exon2 c.4335-67A>G 0.861222 0.996 Uncertain 16_75269267_A->G 16 75269267 75269267 A G snp 4884.77 1/1 99 179 0 179 1.0 exonic rs3169330 BCAR1 AU synonymous SNV NM_001170721 exon4 c.T900C p.A300A 0.926318 0.996 0.845487 0.8735 0.9962 Uncertain 16_75269534_C->T 16 75269534 75269534 C T snp 1685.77 0/1 99 152 84 68 0.45 exonic rs3743613 BCAR1 AU synonymous SNV NM_001170721 exon4 c.G633A p.P211P 0.471845 0.8512 0.304542 0.4260 0.8319 Uncertain 16_75269958_-->CA 16 75269958 75269958 - CA indel 552.73 0/1 99 47 16 31 0.66 intronic rs141406873 BCAR1 AU NM_014567 exon3 c.6476+74insCA 0.442292 0.7421 Uncertain 16_75270721_C->A 16 75270721 75270721 C A snp 1255.77 0/1 99 68 22 46 0.68 splicing rs2278020 BCAR1 AU NM_001170717 exon4 c.7317-4C>A 0.539337 0.8433 0.373412 0.4169 0.8229 Pathogenic 16_75276295_A->G 16 75276295 75276295 A G snp 783.77 1/1 57 27 0 27 1.0 intronic rs7195938 BCAR1 AU NM_014567 exon6 c.12959-72A>G 0.933706 0.9802 Uncertain 16_75276775_G->A 16 75276775 75276775 G A snp 1598.77 1/1 99 63 0 63 1.0 exonic rs1035539 BCAR1 AU nonsynonymous SNV NM_001170715 exon2 c.C280T p.P94S 0.59385 0.629 0.577142 0.6795 0.6362 0.5 T 0.000 P -0.944 T 0.008 T 0.007 T Pathogenic 16_75277344_A->T 16 75277344 75277344 A T snp 2281.77 1/1 99 84 0 84 1.0 intronic rs4888363 BCAR1 AU NM_014567 exon6 c.13580+356A>T 0.855831 0.9802 0.776182 0.8570 0.9821 Uncertain 16_75277480_C->A 16 75277480 75277480 C A snp 180.77 0/1 99 20 13 7 0.35 intronic rs4887810 BCAR1 AU NM_014567 exon6 c.13580+492C>A 0.515575 0.8343 Uncertain 16_75281964_A->C 16 75281964 75281964 A C snp 4971.77 1/1 99 191 1 190 0.99 UTR5 rs1862737 BCAR1 AU 0.507788 0.5923 0.478151 0.5537 0.5862 Uncertain 16_75285164_A->C 16 75285164 75285164 A C snp 268.8 1/1 21 10 0 10 1.0 intronic rs1862738 BCAR1 AU NM_014567 exon7 c.21960-204A>C 0.91893 0.9802 Uncertain 16_75300708_C->G 16 75300708 75300708 C G snp 1686.77 1/1 99 54 0 54 1.0 intronic rs11149811 BCAR1 AU NM_001170716 exon7 c.37299+1C>G 0.938299 0.996 0.859177 0.8851 0.9971 Uncertain 16_75301605_A->G 16 75301605 75301605 A G snp 245.8 1/1 21 8 0 8 1.0 intronic rs9319482 BCAR1 AU NM_001170715 exon7 c.38404-207A>G 0.794329 0.9286 Uncertain 16_75327916_A->G 16 75327916 75327916 A G snp 6742.77 1/1 99 248 0 248 1.0 exonic rs6624 CFDP1 AU synonymous SNV NM_006324 exon7 c.T834C p.L278L 0.785942 0.6002 0.834641 0.8427 0.5947 Uncertain 16_75338855_C->T 16 75338855 75338855 C T snp 4576.77 1/1 99 169 0 169 1.0 intronic rs3743607 CFDP1 AU NM_006324 exon2 c.11072-66C>T 0.327875 0.5248 Uncertain 16_75339131_T->G 16 75339131 75339131 T G snp 1085.77 1/1 78 38 0 38 1.0 intronic rs7192981 CFDP1 AU NM_006324 exon2 c.11231+51T>G 0.990016 1 0.975277 0.9797 1 Uncertain 16_75429252_T->C 16 75429252 75429252 T C snp 267.8 1/1 21 7 0 7 1.0 intronic rs2285225 CFDP1 AU NM_006324 exon3 c.101258+145T>C 0.497204 0.5466 Uncertain 16_75445605_G->A 16 75445605 75445605 G A snp 523.77 1/1 39 15 0 15 1.0 intronic rs1109341 CFDP1 AU NM_006324 exon4 c.117873-117G>A 0.497804 0.5456 Uncertain 16_75445675_G->A 16 75445675 75445675 G A snp 1187.77 1/1 84 48 0 48 1.0 intronic rs1109342 CFDP1 AU NM_006324 exon4 c.117873-47G>A 0.497404 0.5456 0.505541 0.5735 0.5266 Uncertain 16_75445906_C->T 16 75445906 75445906 C T snp 309.78 1/1 24 9 0 9 1.0 intronic rs247435 CFDP1 AU NM_006324 exon4 c.118001+56C>T 0.983626 1 Uncertain 16_75448273_C->T 16 75448273 75448273 C T snp 225.84 1/1 18 7 0 7 1.0 intronic rs8056236 CFDP1 AU NM_006324 exon6 c.120626-202C>T 0.497604 0.5456 Uncertain 16_75448659_A->G 16 75448659 75448659 A G snp 593.77 1/1 45 17 0 17 1.0 intronic rs8051407 CFDP1 AU NM_006324 exon6 c.120744+66A>G 0.497604 0.5456 Uncertain 16_75467076_-->C 16 75467076 75467076 - C indel 404.73 1/1 39 13 0 13 1.0 intronic rs3833048 CFDP1 AU NM_006324 exon7 c.139337-110insC Uncertain 16_75481771_A->G 16 75481771 75481771 A G snp 54.74 1/1 6 2 0 2 1.0 intronic rs2242405 TMEM170A AU NM_001304997 exon1 c.131+185A>G 0.690296 0.619 Uncertain 16_75498252_-->T 16 75498252 75498252 - T indel 3476.73 1/1 99 87 0 87 1.0 UTR5 rs150429885 TMEM170A AU 0.475439 0.5585 Uncertain 16_75498253_G->T 16 75498253 75498253 G T snp 2287.77 1/1 99 81 2 79 0.98 UTR5 rs34904236 TMEM170A AU 0.479233 0.5595 Uncertain 16_75538633_C->T 16 75538633 75538633 C T snp 337.77 0/1 99 76 50 26 0.34 intergenic rs552891659 CHST6 AR 0.00119808 0.005 Uncertain 16_75565420_A->G 16 75565420 75565420 A G snp 401.77 1/1 33 12 0 12 1.0 UTR5 rs2641806 CHST5 AU 0.635383 0.9474 Uncertain 16_75566879_C->T 16 75566879 75566879 C T snp 141.03 1/1 12 5 0 5 1.0 intronic rs3736377 CHST5 AU NM_024533 exon2 c.3940-107C>T 0.254593 0.6954 Uncertain 16_75574030_C->T 16 75574030 75574030 C T snp 2871.77 1/1 99 113 1 112 0.99 exonic rs2242406 TMEM231 AR synonymous SNV NM_001077416 exon6 c.G972A p.V324V 0.270168 0.7034 0.043729 0.1740 0.7586 Uncertain 16_75590092_G->C 16 75590092 75590092 G C snp 3045.77 1/1 99 112 0 112 1.0 exonic rs3743601 TMEM231 AR nonsynonymous SNV NM_001077416 exon1 c.C78G p.S26R 0.289137 0.6895 0.058091 0.2813 0.7762 1 T 0.015 P -0.915 T 0.021 T 0.022 T CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000118628.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 16_75600485_G->C 16 75600485 75600485 G C snp 1815.77 1/1 99 60 0 60 1.0 intronic rs8192516 GABARAPL2 AU NM_007285 exon1 c.34+67G>C 0.292732 0.7034 Uncertain 16_75646576_G->T 16 75646576 75646576 G T snp 3001.77 1/1 99 98 1 97 0.99 exonic rs3743599 ADAT1 AU nonsynonymous SNV NM_012091 exon7 c.C608A p.T203N 0.266174 0.6935 0.041243 0.1672 0.7343 0.49 T 0.0 P -0.948 T 0.326 T 0.091 T Pathogenic 16_75646685_G->T 16 75646685 75646685 G T snp 2704.77 1/1 99 99 0 99 1.0 exonic rs3743598 ADAT1 AU nonsynonymous SNV NM_012091 exon7 c.C499A p.H167N 0.570487 0.8165 0.364497 0.3692 0.8298 0.54 T 0.0 P -0.984 T 0.0 T 0.002 T Pathogenic 16_75651239_G->A 16 75651239 75651239 G A snp 1217.77 0/1 99 84 36 48 0.57 intronic rs189664256 ADAT1 AU NM_012091 exon6 c.17057+69G>A 0.00179712 0.0089 Uncertain 16_75652407_C->A 16 75652407 75652407 C A snp 751.77 0/1 99 42 12 30 0.71 intronic rs2117565 ADAT1 AU NM_012091 exon7 c.18370-76C>A 0.41274 0.7252 Uncertain 16_75652704_G->C 16 75652704 75652704 G C snp 220.84 1/1 18 6 0 6 1.0 intronic rs2164245 ADAT1 AU NM_012091 exon7 c.18425+166G>C 0.289137 0.7103 Uncertain 16_75661805_G->A 16 75661805 75661805 G A snp 1316.77 0/1 99 139 79 60 0.43 exonic rs191584337 KARS AR synonymous SNV NM_001130089 exon15 c.C1866T p.G622G 0.00119808 0.005 0.0006 0.0068 Uncertain 16_75664189_G->T 16 75664189 75664189 G T snp 476.77 0/1 99 62 39 23 0.37 intronic rs529675239 KARS AR NM_001130089 exon4 c.2528-131G>T 0.000998403 0.005 Uncertain 16_75665019_A->G 16 75665019 75665019 A G snp 2080.77 1/1 99 73 0 73 1.0 intronic rs7189895 KARS AR NM_001130089 exon5 c.3273-46A>G 0.610823 0.869 0.429594 0.4444 0.8922 Uncertain 16_75665228_G->- 16 75665228 75665228 G - indel 856.73 0/1 99 53 27 26 0.49 intronic rs3214635 KARS AR NM_001130089 exon5 c.3359+77delG 0.267772 0.7004 Uncertain 16_75670408_G->A 16 75670408 75670408 G A snp 1849.77 0/1 99 146 65 81 0.55 exonic rs181866651 KARS AR synonymous SNV NM_001130089 exon5 c.C510T p.L170L 0.00179712 0.0089 0.0005 0.0063 Uncertain 16_75670541_G->T 16 75670541 75670541 G T snp 32.77 0/1 61 8 6 2 0.25 intronic rs12596816 KARS AR NM_001130089 exon11 c.8653+96G>T Uncertain 16_75681743_C->G 16 75681743 75681743 C G snp 1956.77 1/1 99 59 0 59 1.0 UTR5 rs1865493 TERF2IP AU 0.438498 0.7173 0.226377 0.2546 0.7701 Uncertain 16_75703213_-->A 16 75703213 75703213 - A indel 502.73 0/1 32 43 7 36 0.84 intergenic rs199883674 TERF2IP AU 0.651558 0.8075 Uncertain 16_75728368_A->G 16 75728368 75728368 A G snp 2054.77 0/1 99 189 96 93 0.49 intergenic rs17697324 TERF2IP AU 0.253195 0.6131 0.1801 0.6717 0.18 T 0.0 P -0.970 T Uncertain 16_75730037_-->A 16 75730037 75730037 - A indel 3262.73 1/1 99 74 0 74 1.0 intergenic rs5817959 TERF2IP AU 0.742612 0.9702 0.5128 0.9343 Uncertain 16_75794738_T->C 16 75794738 75794738 T C snp 888.77 0/1 99 97 55 42 0.43 intergenic rs7205764 TERF2IP AU 0.492812 0.3502 0.3635 0.2121 Uncertain 16_76311602_-->T 16 76311602 76311602 - T indel 7643.73 1/1 99 183 0 183 1.0 exonic rs397777375 CNTNAP4 AU unknown 1 1 1.0000 1 Uncertain 16_76389498_A->T 16 76389498 76389498 A T snp 1774.77 1/1 99 59 0 59 1.0 intronic rs17699131 CNTNAP4 AU NM_138994 exon3 c.45615+90A>T 0.194688 0.4504 Uncertain 16_76389542_A->G 16 76389542 76389542 A G snp 818.77 1/1 60 26 0 26 1.0 intronic rs17699142 CNTNAP4 AU NM_138994 exon3 c.45615+134A>G 0.194489 0.4504 Uncertain 16_76389562_T->C 16 76389562 76389562 T C snp 493.77 1/1 39 13 0 13 1.0 intronic rs72628211 CNTNAP4 AU NM_138994 exon3 c.45615+154T>C 0.194688 0.4514 Uncertain 16_76461273_A->C 16 76461273 76461273 A C snp 1806.77 1/1 99 51 0 51 1.0 intronic rs7192076 CNTNAP4 AU NM_138994 exon4 c.117555-75A>C 0.704073 0.7956 Uncertain 16_76461519_C->A 16 76461519 76461519 C A snp 3274.77 1/1 99 109 0 109 1.0 intronic rs9927638 CNTNAP4 AU NM_138994 exon4 c.117703+23C>A 0.373403 0.4246 0.400816 0.4194 0.4175 Uncertain 16_76461588_A->G 16 76461588 76461588 A G snp 1010.77 1/1 75 32 0 32 1.0 intronic rs9938200 CNTNAP4 AU NM_138994 exon4 c.117703+92A>G 0.704673 0.7956 Uncertain 16_76482939_T->G 16 76482939 76482939 T G snp 108.77 0/1 99 9 5 4 0.44 intronic rs74795185 CNTNAP4 AU NM_138994 exon6 c.139055+91T>G 0.0233626 0.1161 Uncertain 16_76495842_C->A 16 76495842 76495842 C A snp 1331.77 1/1 93 54 0 54 1.0 intronic rs35994137 CNTNAP4 AU NM_138994 exon8 c.152059-10C>A 0.288139 0.371 0.302324 0.3613 0.375 Uncertain 16_76496131_C->T 16 76496131 76496131 C T snp 136.03 1/1 12 4 0 4 1.0 intronic rs34782687 CNTNAP4 AU NM_138994 exon8 c.152209+129C>T 0.638978 0.7649 Uncertain 16_76501542_A->G 16 76501542 76501542 A G snp 453.77 1/1 36 12 0 12 1.0 intronic rs1002974 CNTNAP4 AU NM_138994 exon9 c.157627+122A>G 0.645567 0.5863 Uncertain 16_76523792_A->G 16 76523792 76523792 A G snp 501.77 1/1 39 13 0 13 1.0 intronic rs7201030 CNTNAP4 AU NM_138994 exon12 c.179987+12A>G 0.603834 0.7986 0.655379 0.7953 0.7796 Uncertain 16_76528976_T->C 16 76528976 76528976 T C snp 883.77 1/1 69 23 0 23 1.0 intronic rs4268783 CNTNAP4 AU NM_138994 exon13 c.185170+13T>C 0.636581 0.7619 0.645606 0.6571 0.7667 Uncertain 16_76532392_C->T 16 76532392 76532392 C T snp 1664.77 1/1 99 54 0 54 1.0 intronic rs12932943 CNTNAP4 AU NM_138994 exon14 c.188670-71C>T 0.635982 0.7421 Uncertain 16_76532583_A->G 16 76532583 76532583 A G snp 3784.77 1/1 99 141 0 141 1.0 exonic rs12933808 CNTNAP4 AU unknown 0.839457 0.9712 0.840891 0.8820 0.9752 0.65 T 0.0 P -0.994 T 0.0 T 0.001 T Uncertain 16_76555016_T->- 16 76555016 76555016 T - indel 2415.73 1/1 99 99 6 93 0.94 intronic rs11353699 CNTNAP4 AU NM_138994 exon15 c.211243-20delT 0.985823 0.996 0.9575 0.9590 Uncertain 16_76569754_A->T 16 76569754 76569754 A T snp 911.77 1/1 66 34 0 34 1.0 intronic rs6564348 CNTNAP4 AU NM_138994 exon17 c.225888+73A>T 0.992812 1 Uncertain 16_76587647_G->C 16 76587647 76587647 G C snp 1634.77 1/1 99 56 0 56 1.0 intronic rs4243123 CNTNAP4 AU NM_138994 exon22 c.243939-85G>C 0.996805 1 Uncertain 16_76902722_C->G 16 76902722 76902722 C G snp 547.77 0/1 99 42 18 24 0.57 upstream rs34106659 MIR4719 AU 0.184505 0.3403 Uncertain 16_76902847_T->C 16 76902847 76902847 T C snp 841.77 1/1 60 31 0 31 1.0 ncRNA_exonic rs7500280 MIR4719 AU 0.670727 0.6379 1 . Uncertain 16_76902850_G->A 16 76902850 76902850 G A snp 795.77 1/1 57 30 0 30 1.0 ncRNA_exonic rs7499278 MIR4719 AU 0.752796 0.6419 1 . Uncertain 16_77225217_-->G 16 77225217 77225217 - G indel 935.73 0/1 99 76 37 39 0.51 intronic rs3214483 MON1B AU NM_001286640 exon1 c.37+62insG Uncertain 16_77228629_A->G 16 77228629 77228629 A G snp 7096.77 1/1 99 250 0 250 1.0 exonic rs2232503 MON1B AU synonymous SNV NM_001286640 exon2 c.A435G p.R145R 0.98722 0.999 0.989072 0.9972 1 Uncertain 16_77228866_T->C 16 77228866 77228866 T C snp 6837.77 1/1 99 249 0 249 1.0 exonic rs2232504 MON1B AU synonymous SNV NM_001286640 exon2 c.T672C p.V224V 0.778754 0.8651 0.687981 0.6785 0.8553 Uncertain 16_77228971_C->T 16 77228971 77228971 C T snp 1998.77 0/1 99 140 57 83 0.59 exonic rs2232506 MON1B AU synonymous SNV NM_001286640 exon2 c.C777T p.V259V 0.13119 0.2857 0.071637 0.1369 0.2953 Uncertain 16_77229657_C->T 16 77229657 77229657 C T snp 616.77 0/1 99 52 23 29 0.56 intronic rs2303259 MON1B AU NM_001286640 exon3 c.4461+78C>T 0.156749 0.2857 Uncertain 16_77233338_C->T 16 77233338 77233338 C T snp 728.77 0/1 99 68 35 33 0.49 UTR3 rs8398 MON1B AU 0.357827 0.4008 0.3365 0.3819 Uncertain 16_77233394_A->G 16 77233394 77233394 A G snp 1465.77 1/1 99 57 0 57 1.0 exonic rs4888607 SYCE1L AU nonsynonymous SNV NM_001129979 exon1 c.A46G p.T16A 0.98762 1 0.990145 0.9962 1 1 T 0.0 P -0.981 T 0.0 T 0.0 T Pathogenic 16_77240217_G->C 16 77240217 77240217 G C snp 149.77 0/1 99 13 8 5 0.38 intronic rs9928151 SYCE1L AU NM_001129979 exon2 c.6989-120G>C 0.507987 0.5962 Uncertain 16_77240623_C->G 16 77240623 77240623 C G snp 319.03 0/1 12 12 1 11 0.92 intronic rs72798552 SYCE1L AU NM_001129979 exon2 c.7049+226C>G 0.140375 0.2907 Uncertain 16_77242083_C->G 16 77242083 77242083 C G snp 1421.77 1/1 99 52 0 52 1.0 intronic rs9934426 SYCE1L AU NM_001129979 exon3 c.8758-23C>G 0.988818 1 0.990802 0.9972 1 Uncertain 16_77242233_A->G 16 77242233 77242233 A G snp 1665.77 0/1 99 147 79 68 0.46 intronic rs68164273 SYCE1L AU NM_001129979 exon3 c.8818+67A>G 0.139976 0.2897 0.091546 Uncertain 16_77242284_G->A 16 77242284 77242284 G A snp 5719.77 1/1 99 201 0 201 1.0 intronic rs1424146 SYCE1L AU NM_001129979 exon4 c.9013-77G>A 0.967851 1 Uncertain 16_77242513_C->T 16 77242513 77242513 C T snp 416.77 0/1 99 23 8 15 0.65 intronic rs2343035 SYCE1L AU NM_001129979 exon4 c.9088+77C>T 0.58746 0.5952 Uncertain 16_77242558_T->C 16 77242558 77242558 T C snp 41.77 0/1 70 4 2 2 0.5 intronic rs2343036 SYCE1L AU NM_001129979 exon4 c.9088+122T>C 0.507388 0.5952 Uncertain 16_77242854_T->C 16 77242854 77242854 T C snp 35.77 0/1 64 6 4 2 0.33 intronic rs55993423 SYCE1L AU NM_001129979 exon5 c.9645-139T>C 0.130791 0.2897 Uncertain 16_77245239_C->T 16 77245239 77245239 C T snp 2037.77 0/1 99 152 66 86 0.57 intronic rs746036 SYCE1L AU NM_001129979 exon7 c.11825+66C>T 0.138778 0.2847 0.091546 Uncertain 16_77246795_C->G 16 77246795 77246795 C G snp 1848.77 0/1 99 156 75 81 0.52 exonic rs2278049 SYCE1L AU synonymous SNV NM_001129979 exon11 c.C696G p.P232P 0.510583 0.5942 0.5966 0.6396 Uncertain 16_77246847_T->G 16 77246847 77246847 T G snp 2650.77 0/1 99 236 121 115 0.49 UTR3 rs2278048 SYCE1L AU 0.569688 0.5942 0.6148 0.6399 Uncertain 16_77246953_G->C 16 77246953 77246953 G C snp 1523.77 0/1 99 163 95 68 0.42 UTR3 rs2278047 SYCE1L AU 0.507588 0.5952 Uncertain 16_77246988_T->G 16 77246988 77246988 T G snp 3238.77 1/1 99 107 0 107 1.0 downstream rs7203616 SYCE1L AU Uncertain 16_77247077_C->T 16 77247077 77247077 C T snp 111.77 0/1 66 6 2 4 0.67 downstream rs2278046 SYCE1L AU 0.356829 0.4048 Uncertain 16_77323210_C->T 16 77323210 77323210 C T snp 2927.77 1/1 99 111 0 111 1.0 exonic rs3743750 ADAMTS18 AR synonymous SNV NM_199355 exon22 c.G3501A p.P1167P 0.00499201 0.0208 0.001154 0.0027 0.0163 Uncertain 16_77327226_C->A 16 77327226 77327226 C A snp 730.77 1/1 54 29 0 29 1.0 intronic rs4888618 ADAMTS18 AR NM_199355 exon4 c.9303+71C>A 0.899361 0.9881 Uncertain 16_77353973_G->T 16 77353973 77353973 G T snp 1928.77 1/1 99 66 0 66 1.0 exonic rs9930984 ADAMTS18 AR nonsynonymous SNV NM_199355 exon16 c.C2305A p.L769I 0.634984 0.8681 0.514389 0.4964 0.8818 0.11 T 0.0 P -0.987 T 0.001 T 0.005 T Pathogenic 16_77359919_A->T 16 77359919 77359919 A T snp 3898.77 1/1 99 142 0 142 1.0 exonic rs11640912 ADAMTS18 AR nonsynonymous SNV NM_199355 exon13 c.T1876A p.L626I 0.439497 0.8681 0.318867 0.4263 0.8837 0 D 0.0 P -1.056 T 0.015 T 0.006 T Pathogenic 16_77360019_G->T 16 77360019 77360019 G T snp 676.77 1/1 51 18 0 18 1.0 intronic rs62044892 ADAMTS18 AR NM_199355 exon11 c.42083+84G>T 0.432308 0.8671 Uncertain 16_77389762_C->T 16 77389762 77389762 C T snp 189.77 0/1 99 13 7 6 0.46 intronic rs8058333 ADAMTS18 AR NM_199355 exon15 c.71984-74C>T 0.410543 0.5625 Uncertain 16_77389956_A->G 16 77389956 77389956 A G snp 817.77 0/1 99 86 48 38 0.44 exonic rs8059275 ADAMTS18 AR synonymous SNV NM_199355 exon9 c.T1341C p.D447D 0.882188 0.8968 0.874731 0.8643 0.9078 Uncertain 16_77398386_A->T 16 77398386 77398386 A T snp 173.77 0/1 99 17 9 8 0.47 intronic rs2562119 ADAMTS18 AR NM_199355 exon19 c.80426+108A>T 0.908746 0.8948 Uncertain 16_77401545_A->G 16 77401545 77401545 A G snp 2223.77 0/1 99 175 89 86 0.49 exonic rs11643211 ADAMTS18 AR nonsynonymous SNV NM_199355 exon4 c.T571C p.Y191H 0.366813 0.5774 0.252616 0.3157 0.5734 0.53 T 1.000 P -1.062 T 0.599 T 0.345 P Pathogenic 16_77756613_G->A 16 77756613 77756613 G A snp 1193.77 1/1 90 35 0 35 1.0 intronic rs2914456 NUDT7 AU NM_001243661 exon1 c.35+99G>A 0.439896 0.5456 Uncertain 16_77769369_C->T 16 77769369 77769369 C T snp 371.78 1/1 27 17 0 17 1.0 intronic rs308926 NUDT7 AU NM_001243660 exon3 c.12925-35C>T 0.914137 0.9901 0.9696 0.9803 Uncertain 16_77769647_C->T 16 77769647 77769647 C T snp 1043.77 1/1 78 33 0 33 1.0 intronic rs186305 NUDT7 AU NM_001105663 exon3 c.13245-77C>T 0.906949 0.9901 Uncertain 16_77769834_G->A 16 77769834 77769834 G A snp 1364.77 0/1 99 83 30 53 0.64 exonic rs308925 NUDT7 AU nonsynonymous SNV NM_001105663 exon3 c.G299A p.R100H 0.232428 0.2778 0.150881 0.2113 0.2466 0.38 T 0.0 P -0.903 T 0.002 T 0.004 T Pathogenic 16_77775459_G->A 16 77775459 77775459 G A snp 1258.77 0/1 99 78 30 48 0.62 intronic rs11648791 NUDT7 AU NM_001243661 exon3 c.18999-19G>A 0.436901 0.374 0.561053 0.5732 0.3848 Uncertain 16_77775917_A->G 16 77775917 77775917 A G snp 44.77 0/1 33 3 1 2 0.67 UTR3 rs1133108 NUDT7 AU 0.325679 0.2897 Uncertain 16_77850966_T->C 16 77850966 77850966 T C snp 991.77 0/1 99 74 38 36 0.49 intronic rs2966053 VAT1L AU NM_020927 exon2 c.28368+19T>C 0.234824 0.1885 0.214912 0.2581 0.1842 Uncertain 16_77850999_A->G 16 77850999 77850999 A G snp 748.77 0/1 99 46 21 25 0.54 intronic rs2966052 VAT1L AU NM_020927 exon2 c.28368+52A>G 0.219449 0.1885 0.199807 0.2530 0.1846 Uncertain 16_77910418_A->G 16 77910418 77910418 A G snp 438.77 0/1 99 29 14 15 0.52 intronic rs3751765 VAT1L AU NM_020927 exon5 c.87791+48A>G 0.421925 0.5516 0.338566 0.3627 0.5711 Uncertain 16_77912966_T->C 16 77912966 77912966 T C snp 863.77 0/1 99 60 31 29 0.48 intronic rs3751767 VAT1L AU NM_020927 exon6 c.90486-99T>C 0.357827 0.4266 Uncertain 16_77913219_C->T 16 77913219 77913219 C T snp 1407.77 0/1 99 108 54 54 0.5 intronic rs9930395 VAT1L AU NM_020927 exon6 c.90542+98C>T 0.245607 0.3839 Uncertain 16_77918801_T->C 16 77918801 77918801 T C snp 356.77 0/1 99 16 4 12 0.75 intronic rs1864228 VAT1L AU NM_020927 exon7 c.96120+102T>C 0.494808 0.5486 Uncertain 16_78005701_A->G 16 78005701 78005701 A G snp 782.77 0/1 99 59 27 32 0.54 intronic rs147715665 VAT1L AU NM_020927 exon8 c.183167-45A>G 0.00878594 0.0427 0.000077 0.0030 0.0385 Uncertain 16_78062159_C->T 16 78062159 78062159 C T snp 1513.77 0/1 99 101 39 62 0.61 intronic rs2075738 CLEC3A AU NM_005752 exon2 c.5591+72C>T 0.379992 0.5089 Uncertain 16_78062190_T->C 16 78062190 78062190 T C snp 2011.77 1/1 99 65 0 65 1.0 intronic rs2735403 CLEC3A AU NM_005752 exon2 c.5591+103T>C 0.853834 0.9504 Uncertain 16_78062219_C->T 16 78062219 78062219 C T snp 983.77 1/1 72 29 0 29 1.0 intronic rs2204891 CLEC3A AU NM_005752 exon2 c.5591+132C>T 0.836861 0.9504 Uncertain 16_78063000_T->C 16 78063000 78063000 T C snp 978.77 0/1 99 94 49 45 0.48 intronic rs7197560 CLEC3A AU NM_005752 exon2 c.5591+913T>C 0.366014 0.506 0.4201 0.5152 Uncertain 16_78063064_G->T 16 78063064 78063064 G T snp 1020.77 0/1 99 108 62 46 0.43 intronic rs7190832 CLEC3A AU NM_001244755 exon1 c.43+20G>T 0.360224 0.506 0.4119 0.5152 Uncertain 16_78063143_C->T 16 78063143 78063143 C T snp 622.77 0/1 99 70 43 27 0.39 intronic rs7192416 CLEC3A AU NM_001244755 exon1 c.43+99C>T 0.583466 0.6905 Uncertain 16_78064220_T->G 16 78064220 78064220 T G snp 62.77 0/1 91 12 9 3 0.25 intronic rs12917942 CLEC3A AU NM_005752 exon3 c.7847-123T>G 0.579872 0.6935 Uncertain 16_78064733_C->A 16 78064733 78064733 C A snp 174.77 0/1 99 19 12 7 0.37 exonic rs2072663 CLEC3A AU nonsynonymous SNV NM_005752 exon3 c.C616A p.Q206K 0.13139 0.245 0.116207 0.1341 0.2380 0.41 T 0.000 P -1.026 T 0.001 T 0.0 T Pathogenic 16_78085754_C->A 16 78085754 78085754 C A snp 2997.77 1/1 99 116 1 115 0.99 intergenic rs2344923 CLEC3A AU 1 1 Uncertain 16_78085836_C->T 16 78085836 78085836 C T snp 2145.77 0/1 99 182 92 90 0.49 intergenic rs7203483 CLEC3A AU 0.206869 0.129 0.2667 0.2 Uncertain 16_78143607_C->T 16 78143607 78143607 C T snp 1469.77 0/1 99 105 45 60 0.57 intronic rs2287972 WWOX AR,AU NM_130791 exon3 c.9999-67C>T 0.466254 0.6667 0.389619 Uncertain 16_78148794_T->G 16 78148794 78148794 T G snp 43.77 0/1 70 4 2 2 0.5 intronic rs1469117 WWOX AR,AU NM_130791 exon4 c.15197-78T>G 0.820487 0.879 Uncertain 16_78198192_T->C 16 78198192 78198192 T C snp 4501.77 1/1 99 152 0 152 1.0 splicing rs2303191 WWOX AR,AU NM_130791 exon5 c.64511+6T>C 0.789137 0.9087 0.743452 0.7482 0.8907 Pathogenic 16_78312497_C->A 16 78312497 78312497 C A snp 721.77 0/1 99 74 43 31 0.42 splicing rs8050128 WWOX AR,AU NM_130791 exon6 c.178824-2C>A 0.472244 0.4494 0.461971 0.4595 0.4803 Pathogenic 16_78458750_G->A 16 78458750 78458750 G A snp 1731.77 0/1 99 179 102 77 0.43 intronic rs4130513 WWOX AR,AU NM_016373 exon7 c.325091-16G>A 0.292332 0.1944 0.230091 0.1447 0.1889 Uncertain 16_78466726_C->T 16 78466726 78466726 C T snp 344.77 0/1 99 26 13 13 0.5 intronic rs79481694 WWOX AR,AU NM_016373 exon8 c.332974+77C>T 0.0241613 0.0992 Uncertain 16_78466758_A->C 16 78466758 78466758 A C snp 301.78 1/1 24 9 0 9 1.0 intronic rs3764342 WWOX AR,AU NM_016373 exon8 c.332974+109A>C 0.308706 0.3006 Uncertain 16_78790765_C->T 16 78790765 78790765 C T snp 614.77 0/1 99 78 48 30 0.38 intronic rs7199110 WWOX AR,AU 0.546725 0.4802 Uncertain 16_79245439_G->A 16 79245439 79245439 G A snp 385.77 0/1 99 19 5 14 0.74 intronic rs78590104 WWOX AR,AU NM_016373 exon9 c.1111829-65G>A 0.0151757 0.0288 Uncertain 16_79245465_T->C 16 79245465 79245465 T C snp 495.77 0/1 99 27 9 18 0.67 intronic rs384216 WWOX AR,AU NM_016373 exon9 c.1111829-39T>C 0.347244 0.124 0.536141 0.4811 0.1397 Uncertain 16_79245820_G->T 16 79245820 79245820 G T snp 1749.77 0/1 99 122 54 68 0.56 UTR3 rs383362 WWOX AR,AU 0.322284 0.123 0.4794 0.1831 0.41 T 0.000 P -0.917 T 0.919 T 0.483 D Uncertain 16_79245956_C->G 16 79245956 79245956 C G snp 1110.77 0/1 99 92 45 47 0.51 UTR3 rs2288034 WWOX AR,AU 0.406949 0.3373 0.5032 0.3873 0.49 T 0.0 P -0.915 T 0.0 T 0.0 T Uncertain 16_79245961_T->C 16 79245961 79245961 T C snp 1090.77 0/1 99 90 42 48 0.53 UTR3 rs2288033 WWOX AR,AU 0.423123 0.3175 0.5101 0.385 0.5 T 0.0 P -0.937 T 0.002 T 0.007 T Uncertain 16_79246078_G->A 16 79246078 79246078 G A snp 306.77 0/1 99 23 11 12 0.52 UTR3 rs2288032 WWOX AR,AU 0.272764 0.123 0.4640 0.1825 Uncertain 16_79619728_AAA->- 16 79619728 79619730 AAA - indel 902.73 1/1 65 22 0 22 1.0 intergenic rs545566393 WWOX AR,AU 0.85623 0.9187 Uncertain 16_79619835_G->A 16 79619835 79619835 G A snp 1229.77 1/1 87 43 0 43 1.0 intergenic rs60533944 WWOX AR,AU 0.268371 0.4573 0.2483 0.3939 Uncertain 16_79633806_GCC->- 16 79633806 79633808 GCC - indel 1134.73 1/1 69 45 0 45 1.0 UTR5 rs3072011 MAF AD 0.808706 0.9534 0.7107 0.8912 Uncertain 16_79998075_T->G 16 79998075 79998075 T G snp 2083.77 0/1 99 161 81 80 0.5 intergenic rs66539665 LINC01229 AU 0.535743 0.4494 Uncertain 16_80574886_T->C 16 80574886 80574886 T C snp 5000.77 1/1 99 184 0 184 1.0 ncRNA_intronic rs9922406 LOC102724084 AU 0.976637 1 0.978419 Uncertain 16_80575167_C->G 16 80575167 80575167 C G snp 641.77 1/1 48 19 0 19 1.0 ncRNA_intronic rs7202313 LOC102724084 AU 0.979233 1 Uncertain 16_80575178_T->C 16 80575178 80575178 T C snp 510.77 1/1 39 15 0 15 1.0 ncRNA_intronic rs7185063 LOC102724084 AU 0.870208 0.8512 Uncertain 16_80577098_G->T 16 80577098 80577098 G T snp 1812.77 1/1 99 59 0 59 1.0 ncRNA_intronic rs8049769 LOC102724084 AU 0.859026 0.996 Uncertain 16_80581547_C->T 16 80581547 80581547 C T snp 3785.77 1/1 99 118 0 118 1.0 ncRNA_intronic rs6564762 LOC102724084 AU 0.608227 0.8304 Uncertain 16_80581580_A->C 16 80581580 80581580 A C snp 5078.77 1/1 99 182 1 181 0.99 ncRNA_intronic rs6564763 LOC102724084 AU 0.610623 0.8304 Uncertain 16_80581631_G->A 16 80581631 80581631 G A snp 6734.77 1/1 99 250 0 250 1.0 ncRNA_intronic rs6564764 LOC102724084 AU 0.759585 0.8423 0.9000 0.8535 Uncertain 16_80582624_A->C 16 80582624 80582624 A C snp 44.74 1/1 6 2 0 2 1.0 ncRNA_intronic LOC102724084 AU Uncertain 16_80583276_T->A 16 80583276 80583276 T A snp 388.77 1/1 30 11 0 11 1.0 ncRNA_intronic rs12934612 LOC102724084 AU 0.615815 0.8304 Uncertain 16_80641906_G->A 16 80641906 80641906 G A snp 530.77 0/1 99 33 13 20 0.61 intronic rs9940301 CDYL2 AU NM_152342 exon2 c.3704-82G>A 0.382987 0.2669 Uncertain 16_80641931_T->C 16 80641931 80641931 T C snp 600.77 0/1 99 40 19 21 0.53 intronic rs9933302 CDYL2 AU NM_152342 exon2 c.3704-57T>C 0.405751 0.2669 Uncertain 16_80641936_G->C 16 80641936 80641936 G C snp 604.77 0/1 99 40 19 21 0.53 intronic rs9940376 CDYL2 AU NM_152342 exon2 c.3704-52G>C 0.334665 0.2599 Uncertain 16_81015560_C->T 16 81015560 81015560 C T snp 1406.77 1/1 99 46 0 46 1.0 intronic rs2549822 CMC2 AU NM_020188 exon2 c.5493+78C>T 0.77516 0.749 Uncertain 16_81022204_A->- 16 81022204 81022204 A - indel 2188.73 1/1 99 72 0 72 1.0 intronic rs34522854 CMC2 AU NM_020188 exon2 c.5493+6722delA 0.604233 0.5675 0.7991 0.6288 Uncertain 16_81022232_T->C 16 81022232 81022232 T C snp 1802.77 1/1 99 62 0 62 1.0 intronic rs2549833 CMC2 AU NM_020188 exon2 c.5493+6750T>C 0.604433 0.5685 0.7992 0.6288 Uncertain 16_81025372_A->T 16 81025372 81025372 A T snp 690.77 1/1 51 20 0 20 1.0 intronic rs2244452 CMC2 AU NM_020188 exon3 c.20929-5546A>T 0.61222 0.5685 Uncertain 16_81025490_A->C 16 81025490 81025490 A C snp 3751.77 1/1 99 131 0 131 1.0 intronic rs2113196 CMC2 AU NM_020188 exon3 c.20929-5428A>C 0.604233 0.5685 0.7989 0.6288 Uncertain 16_81025506_T->A 16 81025506 81025506 T A snp 3966.77 1/1 99 142 0 142 1.0 intronic rs2113197 CMC2 AU NM_020188 exon3 c.20929-5412T>A 0.604233 0.5685 0.7993 0.6288 Uncertain 16_81050965_A->T 16 81050965 81050965 A T snp 1988.77 1/1 99 76 0 76 1.0 exonic rs935939 CENPN AU nonsynonymous SNV NM_001100624 exon4 c.A252T p.E84D 0.984026 1 0.984774 0.9950 1 1 T 0.000 P -0.970 T 0.0 T 0.0 T Pathogenic 16_81051327_C->T 16 81051327 81051327 C T snp 1244.77 1/1 90 49 0 49 1.0 intronic rs935940 CENPN AU NM_001100625 exon5 c.5818-35C>T 0.984026 1 0.985755 0.9954 1 Uncertain 16_81053683_T->- 16 81053683 81053683 T - indel 242.73 1/1 33 11 0 11 1.0 intronic rs10602593 CENPN AU NM_001100625 exon6 c.8160-21delT 0.760982 0.8254 0.7059 0.7126 Uncertain 16_81061827_G->A 16 81061827 81061827 G A snp 3082.77 1/1 99 121 0 121 1.0 exonic rs2549887 CENPN AU nonsynonymous SNV NM_001270473 exon9 c.G802A p.E268K 0.597244 0.5456 0.669604 0.7104 0.5617 0.74 T 0.000 P -1.025 T 0.001 T 0.007 T Pathogenic 16_81062030_G->T 16 81062030 81062030 G T snp 1014.77 1/1 75 32 0 32 1.0 intronic rs2549888 CENPN AU NM_001100625 exon10 c.16358+128G>T 0.613618 0.5427 Uncertain 16_81062152_TT->- 16 81062152 81062153 TT - indel 4843.73 1/1 99 120 1 119 0.99 intronic rs35608064 CENPN AU NM_001100624 exon11 c.16629-21_16629-20delTT 0.641973 0.5526 0.7373 0.5944 Uncertain 16_81062157_T->C 16 81062157 81062157 T C snp 3271.77 1/1 89 127 4 123 0.97 intronic rs114305409 CENPN AU NM_001100624 exon11 c.16629-16T>C 0.607428 0.5397 0.7141 0.5573 Uncertain 16_81062171_C->T 16 81062171 81062171 C T snp 4516.77 1/1 99 163 0 163 1.0 splicing rs2602428 CENPN AU NM_001100624 exon11 c.16629-2C>T 0.664936 0.5605 0.731116 0.7301 0.5680 Pathogenic 16_81066339_T->G 16 81066339 81066339 T G snp 363.77 0/1 99 47 28 19 0.4 UTR3 rs77874075 CENPN AU 0.113618 0.2054 0.068876 0.1053 0.2214 Uncertain 16_81075289_C->G 16 81075289 81075289 C G snp 96.28 1/1 9 3 0 3 1.0 intronic rs2602454 ATMIN AU NM_015251 exon2 c.5611+203C>G 0.971845 1 Uncertain 16_81076821_T->C 16 81076821 81076821 T C snp 2223.77 0/1 99 143 62 81 0.57 exonic rs2278022 ATMIN AU nonsynonymous SNV NM_001300728 exon4 c.T250C p.S84P 0.102835 0.1974 0.065518 0.0976 0.2159 0.06 T 0.0 P -1.090 T 0.003 T 0.003 T Pathogenic 16_81077915_T->C 16 81077915 81077915 T C snp 2936.77 0/1 99 250 130 120 0.48 exonic rs2257378 ATMIN AU synonymous SNV NM_001300728 exon4 c.T1344C p.A448A 0.702676 0.7202 0.743848 0.8206 0.7143 Uncertain 16_81087488_G->A 16 81087488 81087488 G A snp 377.77 0/1 99 32 20 12 0.38 UTR3 rs12927239 C16orf46 AU 0.210064 0.2758 Uncertain 16_81087886_C->A 16 81087886 81087886 C A snp 40.74 1/1 6 2 0 2 1.0 intronic rs78537381 C16orf46 AU NM_001100873 exon1 c.24+187C>A Uncertain 16_81094760_A->G 16 81094760 81094760 A G snp 2635.77 1/1 99 91 0 91 1.0 UTR3 rs804884 C16orf46 AU 0.984225 1 0.984005 0.9950 1 Uncertain 16_81094951_A->G 16 81094951 81094951 A G snp 2777.77 0/1 99 209 101 108 0.52 exonic rs10459872 C16orf46 AU nonsynonymous SNV NM_001100873 exon3 c.T1003C p.Y335H 0.104633 0.1944 0.065441 0.1022 0.2147 0.54 T 0.0 P -0.922 T 0.005 T 0.011 T Pathogenic 16_81095099_C->G 16 81095099 81095099 C G snp 2470.77 0/1 99 207 110 97 0.47 exonic rs2287995 C16orf46 AU synonymous SNV NM_001100873 exon3 c.G855C p.A285A 0.108027 0.1944 0.067441 0.1034 0.2143 Uncertain 16_81095363_C->T 16 81095363 81095363 C T snp 2955.77 0/1 99 245 121 124 0.51 exonic rs804885 C16orf46 AU synonymous SNV NM_001100873 exon3 c.G591A p.L197L 0.716054 0.7252 0.766610 0.8392 0.7166 Uncertain 16_81117806_A->G 16 81117806 81117806 A G snp 59.74 1/1 6 3 0 3 1.0 intronic rs56395947 GCSH AR NM_004483 exon2 c.1597-261A>G 0.148363 0.2063 Uncertain 16_81117906_A->C 16 81117906 81117906 A C snp 452.77 0/1 99 41 20 21 0.51 intronic rs56032321 GCSH AR NM_004483 exon2 c.1597-161A>C 0.148363 0.2063 Uncertain 16_81118266_C->T 16 81118266 81118266 C T snp 373.77 0/1 99 33 17 16 0.48 intronic rs56119129 GCSH AR NM_004483 exon2 c.1729+67C>T 0.148363 0.2063 Uncertain 16_81118289_C->T 16 81118289 81118289 C T snp 654.77 1/1 48 22 0 22 1.0 intronic rs7187102 GCSH AR NM_004483 exon2 c.1729+90C>T 0.961661 1 Uncertain 16_81121145_T->C 16 81121145 81121145 T C snp 385.77 1/1 30 11 0 11 1.0 intronic rs7200400 GCSH AR NM_004483 exon3 c.4735-60T>C 0.860623 0.9206 0.888962 Uncertain 16_81129822_G->A 16 81129822 81129822 G A snp 127.77 0/1 69 9 3 6 0.67 exonic rs8052579 GCSH AR nonsynonymous SNV NM_004483 exon1 c.C62T p.S21L 0.722644 0.7163 0.6481 . 0.67 T 0.0 P -1.011 T 0.0 T 0.0 T Pathogenic 16_81142257_T->C 16 81142257 81142257 T C snp 1753.77 0/1 99 168 87 81 0.48 exonic rs1869348 PKD1L2 AU unknown 0.582268 0.6657 0.539770 0.4995 0.6427 Uncertain 16_81142358_C->A 16 81142358 81142358 C A snp 657.77 0/1 99 43 19 24 0.56 intronic rs4520846 PKD1L2 AU NM_052892 exon2 c.7571+60C>A 0.45607 0.6141 Uncertain 16_81142719_C->T 16 81142719 81142719 C T snp 46.77 0/1 70 5 2 3 0.6 intronic rs73597265 PKD1L2 AU NM_052892 exon3 c.8071-79C>T 0.0876597 0.1786 Uncertain 16_81145630_C->G 16 81145630 81145630 C G snp 143.77 0/1 99 26 19 7 0.27 intronic rs8053975 PKD1L2 AU NM_052892 exon4 c.11040-137C>G 0.890176 0.8056 Uncertain 16_81145664_A->G 16 81145664 81145664 A G snp 369.77 0/1 99 49 34 15 0.31 intronic rs8054611 PKD1L2 AU NM_052892 exon4 c.11040-103A>G 0.839856 0.7976 Uncertain 16_81145675_T->C 16 81145675 81145675 T C snp 534.77 0/1 99 61 40 21 0.34 intronic rs8059153 PKD1L2 AU NM_052892 exon4 c.11040-92T>C 0.827276 0.7976 Uncertain 16_81145737_T->G 16 81145737 81145737 T G snp 1360.77 0/1 99 134 76 58 0.43 intronic rs8059318 PKD1L2 AU NM_052892 exon4 c.11040-30T>G 0.823482 0.7966 0.902500 0.9162 0.7822 Uncertain 16_81145755_A->T 16 81145755 81145755 A T snp 1657.77 0/1 99 150 80 70 0.47 intronic rs11647962 PKD1L2 AU NM_052892 exon4 c.11040-12A>T 0.518371 0.6409 0.480477 0.4948 0.6196 Uncertain 16_81145807_C->G 16 81145807 81145807 C G snp 2228.77 0/1 99 188 93 95 0.51 exonic rs8054182 PKD1L2 AU unknown 0.836661 0.7966 0.919543 0.9207 0.7827 Uncertain 16_81150938_G->C 16 81150938 81150938 G C snp 392.77 0/1 99 26 13 13 0.5 intronic rs6564824 PKD1L2 AU NM_052892 exon5 c.16248-37G>C 0.217053 0.2917 0.127884 0.1410 0.2895 Uncertain 16_81151122_A->C 16 81151122 81151122 A C snp 6854.77 1/1 99 250 0 250 1.0 exonic rs4889238 PKD1L2 AU unknown 0.985423 1 0.986316 0.9956 1 Uncertain 16_81151163_C->T 16 81151163 81151163 C T snp 2226.77 0/1 99 221 122 99 0.45 intronic rs8053191 PKD1L2 AU NM_052892 exon5 c.16409+27C>T 0.724641 0.7688 0.845461 0.8292 0.7396 Uncertain 16_81151177_C->T 16 81151177 81151177 C T snp 2465.77 0/1 99 188 79 109 0.58 intronic rs76667668 PKD1L2 AU NM_052892 exon5 c.16409+41C>T 0.115016 0.1895 0.029105 0.0916 0.2141 Uncertain 16_81157324_G->A 16 81157324 81157324 G A snp 1315.77 1/1 93 49 0 49 1.0 exonic rs4889241 PKD1L2 AU unknown 0.871805 0.9415 0.903341 0.9407 0.9271 Uncertain 16_81157422_T->A 16 81157422 81157422 T A snp 577.77 0/1 99 67 40 27 0.4 intronic rs79054096 PKD1L2 AU NM_052892 exon7 c.22662+33T>A 0.13758 0.1637 0.149829 0.1441 0.1755 Uncertain 16_81157521_G->A 16 81157521 81157521 G A snp 420.77 0/1 99 29 10 19 0.66 intronic rs4889242 PKD1L2 AU NM_052892 exon7 c.22662+132G>A 0.320088 0.3304 Uncertain 16_81161578_G->A 16 81161578 81161578 G A snp 3414.77 0/1 99 250 117 133 0.53 exonic rs7206183 PKD1L2 AU unknown 0.396166 0.5417 0.324386 0.3524 0.5296 Uncertain 16_81161737_C->T 16 81161737 81161737 C T snp 1207.77 0/1 99 77 29 48 0.62 intronic rs2084959 PKD1L2 AU NM_052892 exon8 c.26944+66C>T 0.400759 0.5427 Uncertain 16_81164274_C->G 16 81164274 81164274 C G snp 227.84 1/1 18 7 0 7 1.0 intronic rs11150345 PKD1L2 AU NM_052892 exon9 c.29522+25C>G 0.994409 1 0.994597 0.9982 1 Uncertain 16_81167342_T->G 16 81167342 81167342 T G snp 726.77 1/1 54 20 0 20 1.0 intronic rs11150346 PKD1L2 AU NM_052892 exon10 c.32578+37T>G 0.895767 0.9464 0.922919 0.9364 0.9485 Uncertain 16_81173030_A->G 16 81173030 81173030 A G snp 582.77 1/1 45 17 0 17 1.0 intronic rs4889243 PKD1L2 AU NM_052892 exon12 c.38385-82A>G 0.926917 0.9315 Uncertain 16_81173136_T->C 16 81173136 81173136 T C snp 2777.77 1/1 99 102 0 102 1.0 exonic rs12918619 PKD1L2 AU unknown 0.946286 0.9306 0.955584 0.9557 0.9306 Uncertain 16_81175103_G->A 16 81175103 81175103 G A snp 5999.77 1/1 99 227 0 227 1.0 exonic rs35941327 PKD1L2 AU unknown 0.134984 0.2282 0.103294 0.1568 0.2554 Uncertain 16_81175161_G->C 16 81175161 81175161 G C snp 4532.77 1/1 99 164 0 164 1.0 intronic rs34207532 PKD1L2 AU NM_052892 exon13 c.40403+31G>C 0.0998403 0.2282 0.067130 0.1184 0.2313 Uncertain 16_81180829_A->T 16 81180829 81180829 A T snp 431.77 1/1 33 15 0 15 1.0 intronic rs35667589 PKD1L2 AU NM_052892 exon14 c.46175-73A>T 0.104433 0.25 Uncertain 16_81180897_G->A 16 81180897 81180897 G A snp 1788.77 1/1 99 60 0 60 1.0 splicing rs35852981 PKD1L2 AU NM_052892 exon14 c.46175-5G>A 0.104433 0.25 0.065217 0.0942 0.2182 Pathogenic 16_81180995_T->C 16 81180995 81180995 T C snp 3033.77 1/1 99 120 0 120 1.0 exonic rs66463064 PKD1L2 AU unknown 0.104433 0.25 0.065632 0.0942 0.2183 Uncertain 16_81181066_G->A 16 81181066 81181066 G A snp 2015.77 1/1 99 72 0 72 1.0 exonic rs55991107 PKD1L2 AU unknown 0.104633 0.251 0.065447 0.0942 0.2184 Uncertain 16_81181783_T->C 16 81181783 81181783 T C snp 530.77 1/1 39 17 0 17 1.0 exonic rs9921748 PKD1L2 AU unknown 0.178315 0.3125 0.108238 0.1465 0.2862 Uncertain 16_81181869_T->C 16 81181869 81181869 T C snp 1366.77 1/1 98 50 1 49 0.98 exonic rs9921827 PKD1L2 AU unknown 0.178315 0.3125 0.109703 0.1332 0.2679 Uncertain 16_81181983_G->A 16 81181983 81181983 G A snp 782.77 1/1 57 33 0 33 1.0 intronic rs35424543 PKD1L2 AU NM_052892 exon15 c.47235+21G>A 0.102037 0.249 0.059752 0.0925 0.2214 Uncertain 16_81182108_A->G 16 81182108 81182108 A G snp 139.03 1/1 12 4 0 4 1.0 intronic rs9940095 PKD1L2 AU NM_052892 exon15 c.47235+146A>G 0.178315 0.3125 Uncertain 16_81183266_A->G 16 81183266 81183266 A G snp 433.77 1/1 33 14 0 14 1.0 intronic rs8044870 PKD1L2 AU NM_052892 exon16 c.48567-28A>G 0.904952 0.8889 0.909010 0.9368 0.8739 Uncertain 16_81183600_G->A 16 81183600 81183600 G A snp 620.77 1/1 48 17 0 17 1.0 intronic rs729265 PKD1L2 AU NM_052892 exon16 c.48767+106G>A 0.178315 0.3135 Uncertain 16_81185211_G->A 16 81185211 81185211 G A snp 214.84 1/1 18 8 0 8 1.0 intronic rs34110030 PKD1L2 AU NM_052892 exon17 c.50644-160G>A 0.171725 0.3095 Uncertain 16_81185280_G->A 16 81185280 81185280 G A snp 822.77 1/1 60 27 0 27 1.0 intronic rs35066366 PKD1L2 AU NM_052892 exon17 c.50644-91G>A 0.174321 0.3095 Uncertain 16_81185412_C->T 16 81185412 81185412 C T snp 2344.77 1/1 99 86 0 86 1.0 exonic rs34444956 PKD1L2 AU unknown 0.174121 0.3095 0.106200 0.2092 0.4109 Uncertain 16_81185416_A->G 16 81185416 81185416 A G snp 2324.77 1/1 99 86 0 86 1.0 exonic rs8061038 PKD1L2 AU unknown 0.940096 1 0.945328 0.9848 0.9998 Uncertain 16_81185419_G->C 16 81185419 81185419 G C snp 2304.77 1/1 99 84 0 84 1.0 exonic rs57461213 PKD1L2 AU unknown 0.174321 0.3095 0.105755 0.1328 0.2757 Uncertain 16_81190294_G->A 16 81190294 81190294 G A snp 182.9 1/1 15 6 0 6 1.0 intronic rs4889251 PKD1L2 AU NM_052892 exon20 c.55736-169G>A 0.896965 1 Uncertain 16_81190308_G->T 16 81190308 81190308 G T snp 304.78 1/1 24 11 0 11 1.0 intronic rs4889252 PKD1L2 AU NM_052892 exon20 c.55736-155G>T 0.94988 1 Uncertain 16_81190413_T->C 16 81190413 81190413 T C snp 2569.77 1/1 99 94 0 94 1.0 intronic rs35326835 PKD1L2 AU NM_052892 exon20 c.55736-50T>C 0.134185 0.3056 0.044577 Uncertain 16_81190598_T->C 16 81190598 81190598 T C snp 3865.77 1/1 99 138 0 138 1.0 exonic rs9938333 PKD1L2 AU unknown 0.21226 0.369 0.135064 0.1837 0.3361 Uncertain 16_81190601_T->C 16 81190601 81190601 T C snp 3831.77 1/1 99 141 0 141 1.0 exonic rs1453325 PKD1L2 AU unknown 0.969249 1 0.976842 0.9739 1 Uncertain 16_81193156_C->G 16 81193156 81193156 C G snp 3223.52 1/1 99 109 0 109 1.0 intronic rs10871403 PKD1L2 AU NM_052892 exon21 c.58501-72C>G 0.52476 0.6796 Uncertain 16_81193321_C->T 16 81193321 81193321 C T snp 1941.77 0/1 99 210 121 89 0.42 exonic rs72628271 PKD1L2 AU unknown 0.170927 0.2262 0.197409 0.2373 0.2269 Uncertain 16_81193433_G->C 16 81193433 81193433 G C snp 648.77 0/1 99 41 20 21 0.51 intronic rs734823 PKD1L2 AU NM_052892 exon21 c.58695+11G>C 0.353235 0.2579 0.386188 0.4888 0.3445 Uncertain 16_81194382_T->C 16 81194382 81194382 T C snp 1462.77 0/1 99 136 72 64 0.47 exonic rs2317117 PKD1L2 AU unknown 0.662939 0.625 0.796576 0.7889 0.6043 Uncertain 16_81197117_A->G 16 81197117 81197117 A G snp 1923.77 1/1 99 71 0 71 1.0 intronic rs4889255 PKD1L2 AU NM_052892 exon23 c.62477-87A>G 0.90615 0.9474 Uncertain 16_81198147_G->A 16 81198147 81198147 G A snp 535.77 0/1 99 42 18 24 0.57 intronic rs16954787 PKD1L2 AU NM_052892 exon24 c.63521-101G>A 0.14357 0.3234 Uncertain 16_81198182_G->C 16 81198182 81198182 G C snp 657.77 0/1 99 54 24 30 0.56 intronic rs10400941 PKD1L2 AU NM_052892 exon24 c.63521-66G>C 0.250799 0.4048 Uncertain 16_81198306_C->A 16 81198306 81198306 C A snp 623.77 0/1 99 63 37 26 0.41 exonic rs10400943 PKD1L2 AU unknown 0.232228 0.4018 0.102546 0.1403 0.4198 Uncertain 16_81198394_C->T 16 81198394 81198394 C T snp 304.77 0/1 99 31 16 15 0.48 intronic rs67137846 PKD1L2 AU NM_052892 exon24 c.63648+19C>T 0.13738 0.2758 0.085232 0.0834 0.2668 Uncertain 16_81198441_T->C 16 81198441 81198441 T C snp 319.78 1/1 24 12 0 12 1.0 intronic rs7191852 PKD1L2 AU NM_052892 exon24 c.63648+66T>C 0.878195 0.9653 Uncertain 16_81199429_G->A 16 81199429 81199429 G A snp 3818.77 1/1 99 145 0 145 1.0 intronic rs12925622 PKD1L2 AU NM_052892 exon25 c.64716-14G>A 0.363219 0.6687 0.252328 0.3349 0.6671 Uncertain 16_81199520_T->C 16 81199520 81199520 T C snp 2443.77 1/1 99 95 2 93 0.98 exonic rs12931217 PKD1L2 AU unknown 0.708067 0.6885 0.681400 0.7141 0.6900 Uncertain 16_81199538_T->C 16 81199538 81199538 T C snp 2178.77 1/1 99 80 2 78 0.97 exonic rs12931227 PKD1L2 AU unknown 0.376198 0.6687 0.239235 0.3399 0.6455 Uncertain 16_81199544_G->A 16 81199544 81199544 G A snp 1798.77 1/1 91 63 2 61 0.97 exonic rs12925771 PKD1L2 AU unknown 0.387181 0.6687 0.229890 0.3429 0.6387 Uncertain 16_81199554_C->T 16 81199554 81199554 C T snp 1426.77 1/1 68 52 2 50 0.96 exonic rs12926898 PKD1L2 AU unknown 0.390375 0.6696 0.3300 0.6242 Uncertain 16_81199555_A->G 16 81199555 81199555 A G snp 1479.77 1/1 70 51 2 49 0.96 exonic rs12597040 PKD1L2 AU unknown 0.392971 0.6696 0.3306 0.6251 Uncertain 16_81199572_A->G 16 81199572 81199572 A G snp 1153.77 1/1 46 38 2 36 0.95 splicing rs12927442 PKD1L2 AU NM_052892 exon25 c.64841+4A>G 0.713658 0.6935 0.669887 0.6929 0.6434 Pathogenic 16_81199600_G->A 16 81199600 81199600 G A snp 807.78 1/1 26 27 1 26 0.96 intronic rs12599110 PKD1L2 AU NM_052892 exon25 c.64841+32G>A 0.375998 0.6716 0.237010 0.3028 0.5832 Uncertain 16_81201419_G->T 16 81201419 81201419 G T snp 56.74 1/1 6 2 0 2 1.0 intronic rs11639507 PKD1L2 AU NM_052892 exon26 c.66796-104G>T 0.655351 0.6984 Uncertain 16_81201422_C->G 16 81201422 81201422 C G snp 126.03 1/1 12 4 0 4 1.0 intronic rs11639795 PKD1L2 AU NM_052892 exon26 c.66796-101C>G 0.708866 0.6984 Uncertain 16_81201441_G->- 16 81201441 81201441 G - indel 263.74 1/1 27 9 0 9 1.0 intronic rs35726804 PKD1L2 AU NM_052892 exon26 c.66796-82delG Uncertain 16_81201448_G->A 16 81201448 81201448 G A snp 345.78 1/1 27 11 0 11 1.0 intronic rs11313252 PKD1L2 AU NM_052892 exon26 c.66796-75G>A 0.657149 0.6984 Uncertain 16_81201507_C->A 16 81201507 81201507 C A snp 826.77 0/1 99 50 18 32 0.64 intronic rs34188236 PKD1L2 AU NM_052892 exon26 c.66796-16C>A 0.20028 0.2639 0.167985 0.3511 0.4038 Uncertain 16_81201899_T->C 16 81201899 81201899 T C snp 96.28 1/1 9 3 0 3 1.0 intronic rs7189244 PKD1L2 AU NM_052892 exon26 c.66979+193T>C 0.657149 0.6984 Uncertain 16_81204188_A->G 16 81204188 81204188 A G snp 180.9 1/1 15 5 0 5 1.0 UTR3 rs1901819 PKD1L2 AU 0.427915 0.6696 Uncertain 16_81204720_C->A 16 81204720 81204720 C A snp 706.77 0/1 99 48 19 29 0.6 intronic rs35271642 PKD1L2 AU NM_052892 exon27 c.69952+41C>A 0.199081 0.2619 0.168323 0.2426 0.2497 Uncertain 16_81204806_T->C 16 81204806 81204806 T C snp 46.77 0/1 33 3 1 2 0.67 intronic rs111775442 PKD1L2 AU NM_052892 exon27 c.69952+127T>C Uncertain 16_81208048_A->G 16 81208048 81208048 A G snp 276.77 0/1 99 23 14 9 0.39 intronic rs745210 PKD1L2 AU NM_052892 exon28 c.73597-276A>G 0.553115 0.7609 Uncertain 16_81208056_A->G 16 81208056 81208056 A G snp 421.77 0/1 99 36 21 15 0.42 intronic rs745209 PKD1L2 AU NM_052892 exon28 c.73597-268A>G 0.553714 0.7619 Uncertain 16_81208175_C->T 16 81208175 81208175 C T snp 2453.77 0/1 99 245 135 110 0.45 intronic rs11150361 PKD1L2 AU NM_052892 exon28 c.73597-149C>T 0.227835 0.3036 0.3344 0.3394 Uncertain 16_81208203_G->T 16 81208203 81208203 G T snp 2713.77 0/1 99 250 133 117 0.47 intronic rs11150362 PKD1L2 AU NM_052892 exon28 c.73597-121G>T 0.202676 0.256 0.2886 0.2491 0 D 0.000 P -1.059 T 0.998 D 0.865 D Uncertain 16_81208515_G->A 16 81208515 81208515 G A snp 1467.77 0/1 99 94 35 59 0.63 exonic rs12596941 PKD1L2 AU nonsynonymous SNV NM_001278423 exon5 c.C533T p.A178V 0.202276 0.3046 0.167309 0.2460 0.3146 0.14 T 0.0 P -0.988 T 0.228 T 0.083 T Pathogenic 16_81209207_T->C 16 81209207 81209207 T C snp 1623.77 1/1 99 54 0 54 1.0 splicing rs2317114 PKD1L2 AU NM_052892 exon29 c.74482-2T>C 0.551917 0.752 0.398304 0.4556 0.7791 Pathogenic 16_81209234_C->T 16 81209234 81209234 C T snp 729.77 0/1 99 66 36 30 0.45 exonic rs935933 PKD1L2 AU synonymous SNV NM_001278423 exon4 c.G504A p.T168T 0.200679 0.3075 0.129902 0.1388 0.2977 0.0 P -1.001 T Likely benign 16_81213081_G->A 16 81213081 81213081 G A snp 784.77 1/1 60 23 0 23 1.0 intronic rs4889259 PKD1L2 AU NM_052892 exon31 c.78522-168G>A 0.778155 0.9504 Uncertain 16_81213142_C->T 16 81213142 81213142 C T snp 1948.77 1/1 99 66 0 66 1.0 intronic rs4889260 PKD1L2 AU NM_052892 exon31 c.78522-107C>T 0.714856 0.9563 Uncertain 16_81213378_A->G 16 81213378 81213378 A G snp 4483.77 1/1 99 157 0 157 1.0 exonic rs4889261 PKD1L2 AU nonsynonymous SNV NM_001278423 exon2 c.T77C p.L26P 0.80012 0.9623 0.800639 0.8196 0.9624 1 T 0.999 P -0.941 T 0.0 T 0.0 T Pathogenic 16_81213422_C->T 16 81213422 81213422 C T snp 2500.77 1/1 99 81 0 81 1.0 intronic rs4889262 PKD1L2 AU NM_052892 exon31 c.78664+31C>T 0.778355 0.9593 0.782028 0.8132 0.9610 Uncertain 16_81219329_G->T 16 81219329 81219329 G T snp 5849.77 1/1 99 223 1 222 1.0 intronic rs9319563 PKD1L2 AU NM_052892 exon33 c.84577+25G>T 0.933706 1 0.938621 0.9828 1 Uncertain 16_81219396_T->A 16 81219396 81219396 T A snp 3004.77 1/1 99 101 0 101 1.0 intronic rs9674042 PKD1L2 AU NM_052892 exon33 c.84577+92T>A 0.709665 0.9514 Uncertain 16_81222448_A->- 16 81222448 81222448 A - indel 203.27 0/1 1 32 5 27 0.84 intronic rs10714779 PKD1L2 AU NM_052892 exon34 c.87758-37delA 0.688698 0.8026 0.1892 0.1589 Uncertain 16_81222672_T->C 16 81222672 81222672 T C snp 1290.77 1/1 96 41 0 41 1.0 intronic rs4889271 PKD1L2 AU NM_052892 exon34 c.87876+69T>C 0.707069 0.9534 Uncertain 16_81224234_T->C 16 81224234 81224234 T C snp 1927.77 1/1 99 64 0 64 1.0 intronic rs12716909 PKD1L2 AU NM_052892 exon35 c.89542-35T>C 0.735224 0.9534 0.744828 0.7991 0.9595 Uncertain 16_81224423_G->A 16 81224423 81224423 G A snp 3462.77 1/1 99 119 0 119 1.0 intronic rs11647179 PKD1L2 AU NM_052892 exon35 c.89592+104G>A 0.970847 1 Uncertain 16_81232275_G->A 16 81232275 81232275 G A snp 1045.77 1/1 75 35 0 35 1.0 exonic rs7205673 PKD1L2 AU nonsynonymous SNV NM_001076780 exon7 c.C1535T p.P512L 0.761182 0.9514 0.750814 0.7877 0.9566 0.06 T 0.603 P -1.047 T 1.0 D 0.947 D Pathogenic 16_81232564_T->G 16 81232564 81232564 T G snp 3084.77 1/1 99 103 0 103 1.0 exonic rs7194871 PKD1L2 AU nonsynonymous SNV NM_001076780 exon7 c.A1246C p.K416Q 0.787939 0.9544 0.778487 0.7965 0.9593 0.92 T 0.0 P -1.003 T 0.003 T 0.003 T Pathogenic 16_81235903_C->G 16 81235903 81235903 C G snp 220.84 1/1 18 6 0 6 1.0 intronic rs8045756 PKD1L2 AU NM_052892 exon38 c.101382-206C>G 0.809704 0.9524 Uncertain 16_81240912_G->C 16 81240912 81240912 G C snp 50.74 1/1 6 2 0 2 1.0 intronic rs12919179 PKD1L2 AU NM_052892 exon39 c.106365-180G>C 0.63738 0.869 Uncertain 16_81240931_T->C 16 81240931 81240931 T C snp 99.28 1/1 9 3 0 3 1.0 intronic rs11150368 PKD1L2 AU NM_052892 exon39 c.106365-161T>C 0.701877 0.8839 Uncertain 16_81241098_C->T 16 81241098 81241098 C T snp 2408.77 1/1 99 93 0 93 1.0 exonic rs11150369 PKD1L2 AU synonymous SNV NM_001076780 exon5 c.G903A p.P301P 0.701677 0.8839 0.742933 0.7912 0.8680 Uncertain 16_81241100_G->C 16 81241100 81241100 G C snp 2406.77 1/1 99 95 0 95 1.0 exonic rs11150370 PKD1L2 AU nonsynonymous SNV NM_001076780 exon5 c.C901G p.P301A 0.473642 0.8661 0.357973 0.4820 0.8485 0.03 T 0.412 P -0.975 T 1.0 D 0.977 D Pathogenic 16_81242102_G->A 16 81242102 81242102 G A snp 3177.77 1/1 99 112 0 112 1.0 exonic rs6420424 PKD1L2 AU nonsynonymous SNV NM_001076780 exon4 c.C754T p.R252W 0.565495 0.881 0.460199 0.5172 0.8653 0.1 T 0.0 P -1.009 T 0.015 T 0.003 T Pathogenic 16_81242149_TT->- 16 81242149 81242150 TT - indel 5897.73 1/1 99 121 0 121 1.0 exonic rs548490632 PKD1L2 AU frameshift deletion NM_001076780 exon4 c.706_707del p.N236fs 0.441494 0.8026 0.4641 0.8450 ID=COSM314178,COSM314177;OCCURENCE=1(ovary),1(large_intestine),2(breast),1(lung) Pathogenic 16_81242151_T->C 16 81242151 81242151 T C snp 3182.76 1/1 99 114 0 114 1.0 exonic rs5818326 PKD1L2 AU synonymous SNV NM_001076780 exon4 c.A705G p.G235G 0.441494 0.8026 0.4641 0.8436 Uncertain 16_81242194_T->C 16 81242194 81242194 T C snp 2870.77 1/1 99 100 0 100 1.0 exonic rs6564838 PKD1L2 AU nonsynonymous SNV NM_001076780 exon4 c.A662G p.E221G 0.732228 0.8839 0.771693 0.7986 0.8680 1 T 0.026 P -0.975 T 0.0 T 0.0 T Pathogenic 16_81242366_T->C 16 81242366 81242366 T C snp 422.77 1/1 33 14 0 14 1.0 intronic rs6564839 PKD1L2 AU NM_052892 exon40 c.107479+160T>C 0.729034 0.8839 Uncertain 16_81242386_T->G 16 81242386 81242386 T G snp 214.84 1/1 18 6 0 6 1.0 intronic rs6564840 PKD1L2 AU NM_052892 exon40 c.107479+180T>G 0.729433 0.8839 Uncertain 16_81248716_C->T 16 81248716 81248716 C T snp 799.77 0/1 99 71 38 33 0.46 exonic rs12933806 PKD1L2 AU nonsynonymous SNV NM_001076780 exon3 c.G547A p.V183I 0.224042 0.3423 0.193467 0.2584 0.3777 0.42 T 0.0 P -0.981 T 0.001 T 0.001 T Pathogenic 16_81248745_A->G 16 81248745 81248745 A G snp 1187.77 0/1 99 94 43 51 0.54 exonic rs8060294 PKD1L2 AU nonsynonymous SNV NM_001076780 exon3 c.T518C p.L173S 0.390176 0.4345 0.351165 0.3318 0.4238 1 T 0.039 P -0.928 T 0.0 T 0.0 T Pathogenic 16_81248935_T->G 16 81248935 81248935 T G snp 506.77 0/1 99 46 25 21 0.46 intronic rs8044334 PKD1L2 AU NM_052892 exon41 c.114072+136T>G 0.398562 0.4385 Uncertain 16_81249739_G->C 16 81249739 81249739 G C snp 48.74 1/1 6 2 0 2 1.0 intronic rs12919761 PKD1L2 AU NM_052892 exon42 c.115122-110G>C 0.229034 0.3522 Uncertain 16_81249760_A->G 16 81249760 81249760 A G snp 58.77 0/1 87 9 6 3 0.33 intronic rs7186108 PKD1L2 AU NM_052892 exon42 c.115122-89A>G 0.314297 0.4345 Uncertain 16_81249764_G->A 16 81249764 81249764 G A snp 65.77 0/1 94 11 8 3 0.27 intronic rs7206918 PKD1L2 AU NM_052892 exon42 c.115122-85G>A 0.463458 0.4435 Uncertain 16_81249954_T->A 16 81249954 81249954 T A snp 1743.77 0/1 99 147 70 77 0.52 exonic rs7191351 PKD1L2 AU nonsynonymous SNV NM_001076780 exon2 c.A359T p.Q120L 0.469449 0.4425 0.575728 0.5513 0.4117 0 D 0.0 P -0.995 T 0.763 T 0.463 P Pathogenic 16_81253637_A->G 16 81253637 81253637 A G snp 847.77 0/1 99 96 59 37 0.39 intronic rs9924275 PKD1L2 AU NM_052892 exon43 c.118947-37A>G 0.364816 0.4325 0.308097 0.2976 0.3933 Uncertain 16_81253642_A->T 16 81253642 81253642 A T snp 831.77 0/1 99 104 67 37 0.36 intronic rs62052455 PKD1L2 AU NM_052892 exon43 c.118947-32A>T 0.364816 0.4325 0.262323 0.2979 0.3926 Uncertain 16_81253643_G->C 16 81253643 81253643 G C snp 882.77 0/1 99 106 68 38 0.36 intronic rs9933579 PKD1L2 AU NM_052892 exon43 c.118947-31G>C 0.364816 0.4325 0.259402 0.2980 0.3931 Uncertain 16_81253745_C->G 16 81253745 81253745 C G snp 2620.77 0/1 99 231 125 106 0.46 exonic rs9934272 PKD1L2 AU nonsynonymous SNV NM_001076780 exon1 c.G231C p.K77N 0.307508 0.4306 0.275016 0.2835 0.4007 0.24 T 0.0 P -0.893 T 0.316 T 0.154 T Pathogenic 16_81253759_A->G 16 81253759 81253759 A G snp 2831.77 0/1 99 250 131 119 0.48 exonic rs9924371 PKD1L2 AU nonsynonymous SNV NM_001076780 exon1 c.T217C p.W73R 0.534545 0.4405 0.635337 0.5679 0.4074 0.54 T 0.0 P -0.983 T 0.0 T 0.0 T Pathogenic 16_81253917_A->G 16 81253917 81253917 A G snp 2000.77 0/1 99 172 84 88 0.51 exonic rs9924530 PKD1L2 AU nonsynonymous SNV NM_001076780 exon1 c.T59C p.V20A 0.535144 0.4405 0.635948 0.5683 0.4079 1 T 0.0 P -0.936 T 0.0 T 0.0 T Pathogenic 16_81254023_-->A 16 81254023 81254023 - A indel 135.73 0/1 99 18 13 5 0.28 upstream rs35807120 PKD1L2 AU 0.364417 0.4315 0.335926 0.2994 0.3981 Uncertain 16_81279120_T->C 16 81279120 81279120 T C snp 6124.77 1/1 99 223 0 223 1.0 exonic rs28370522 BCO1 AD synonymous SNV NM_017429 exon2 c.T105C p.N35N 0.379593 0.3472 0.387496 0.3405 0.3630 0 D 0.000 P -1.038 T 0.0 T 0.0 T Likely benign 16_81295902_T->C 16 81295902 81295902 T C snp 1987.77 0/1 99 148 65 83 0.56 intronic rs7500996 BCO1 AD NM_017429 exon4 c.23375+14T>C 0.241813 0.2163 0.237312 0.2121 0.2433 Uncertain 16_81301460_G->C 16 81301460 81301460 G C snp 441.77 1/1 36 12 0 12 1.0 intronic rs34500060 BCO1 AD NM_017429 exon6 c.28999-52G>C 0.295128 0.3175 Uncertain 16_81301694_A->T 16 81301694 81301694 A T snp 1180.77 0/1 99 86 39 47 0.55 exonic rs12934922 BCO1 AD nonsynonymous SNV NM_017429 exon6 c.A801T p.R267S 0.227236 0.128 0.352507 0.3574 0.1255 0.09 T 0.000 P -0.918 T 0.014 T 0.009 T ID=CM091857;DIS=Altered beta-carotene metabolism, association with;TAG=DP;PUB=19103647 DP Pathogenic 16_81303625_G->A 16 81303625 81303625 G A snp 120.78 0/1 27 5 1 4 0.8 intronic rs72628274 BCO1 AD NM_017429 exon7 c.31250-138G>A 0.0696885 0.1895 Uncertain 16_81303759_T->C 16 81303759 81303759 T C snp 1129.77 0/1 99 85 39 46 0.54 splicing rs4889294 BCO1 AD NM_017429 exon7 c.31250-4T>C 0.213059 0.1349 0.338050 0.3582 0.1291 Pathogenic 16_81304069_C->T 16 81304069 81304069 C T snp 418.77 0/1 99 30 14 16 0.53 intronic rs28504508 BCO1 AD NM_017429 exon7 c.31508+48C>T 0.182308 0.1915 0.129154 0.0754 0.2195 Uncertain 16_81314496_C->T 16 81314496 81314496 C T snp 797.77 0/1 99 93 56 37 0.4 exonic rs7501331 BCO1 AD nonsynonymous SNV NM_017429 exon8 c.C1136T p.A379V 0.152157 0.1875 0.171563 0.2125 0.1737 0.28 T 0.0 P -1.083 T 0.849 T 0.345 P ID=CM091858;DIS=Altered beta-carotene metabolism, association with;TAG=DP;PUB=19103647 DP Pathogenic 16_81320830_A->G 16 81320830 81320830 A G snp 904.77 1/1 69 36 0 36 1.0 intronic rs8048342 BCO1 AD NM_017429 exon10 c.48386-69A>G 0.984026 1 Uncertain 16_81397238_T->C 16 81397238 81397238 T C snp 307.78 1/1 24 8 0 8 1.0 intronic rs9933250 GAN AR NM_022041 exon7 c.48680-160T>C 0.370807 0.6905 Uncertain 16_81398520_G->A 16 81398520 81398520 G A snp 2957.77 1/1 99 107 0 107 1.0 intronic rs4889313 GAN AR NM_022041 exon8 c.49860-58G>A 0.739617 0.9167 Uncertain 16_81418477_T->G 16 81418477 81418477 T G snp 296.77 0/1 99 24 13 11 0.46 upstream rs76360207 MIR4720 AU 0.00479233 0.0218 Uncertain 16_81508244_T->G 16 81508244 81508244 T G snp 40.77 0/1 33 3 1 2 0.67 intronic rs80154255 CMIP AU NM_198390 exon1 c.300+29098T>G 0.0820687 0.0883 Uncertain 16_81508537_G->A 16 81508537 81508537 G A snp 825.77 0/1 99 49 16 33 0.67 intronic CMIP AU NM_198390 exon1 c.300+29391G>A Uncertain 16_81679151_A->G 16 81679151 81679151 A G snp 2760.77 0/1 99 249 140 109 0.44 intronic rs4889356 CMIP AU NM_030629 exon4 c.156726-6656A>G 0.552117 0.5744 0.4675 0.5591 Uncertain 16_81704014_C->G 16 81704014 81704014 C G snp 231.77 0/1 94 13 4 9 0.69 intronic rs12920501 CMIP AU NM_030629 exon8 c.174769+164C>G 0.185503 0.1081 Uncertain 16_81704033_C->G 16 81704033 81704033 C G snp 80.77 0/1 99 6 3 3 0.5 intronic rs8044418 CMIP AU NM_030629 exon8 c.174769+183C>G 0.518171 0.5625 Uncertain 16_81712240_-->C 16 81712240 81712240 - C indel 449.73 0/1 99 48 16 32 0.67 intronic rs370121347 CMIP AU NM_030629 exon10 c.183152+7insC 0.208267 0.1399 0.1742 0.1769 Uncertain 16_81712246_C->A 16 81712246 81712246 C A snp 415.77 0/1 99 41 24 17 0.41 intronic rs79505712 CMIP AU NM_030629 exon10 c.183152+13C>A 0.0209665 0.0724 0.001915 0.0254 0.1157 Uncertain 16_81712334_C->T 16 81712334 81712334 C T snp 46.77 0/1 33 3 1 2 0.67 intronic rs12446838 CMIP AU NM_030629 exon10 c.183152+101C>T 0.412141 0.7044 Uncertain 16_81726584_A->C 16 81726584 81726584 A C snp 225.77 0/1 55 11 3 8 0.73 intronic rs11642818 CMIP AU NM_030629 exon12 c.197681-178A>C 0.206869 0.1458 Uncertain 16_81726863_C->G 16 81726863 81726863 C G snp 1820.77 0/1 99 157 83 74 0.47 intronic rs2288011 CMIP AU NM_030629 exon12 c.197708+74C>G 0.356829 0.247 0.451599 0.4362 0.3379 Uncertain 16_81730381_C->A 16 81730381 81730381 C A snp 449.77 1/1 33 17 0 17 1.0 intronic rs9933631 CMIP AU NM_030629 exon14 c.201191+109C>A 0.900759 1 Uncertain 16_81736324_C->T 16 81736324 81736324 C T snp 677.77 0/1 99 47 21 26 0.55 intronic rs4888167 CMIP AU NM_030629 exon17 c.207193+50C>T 0.205072 0.1151 0.273763 0.2623 0.1364 Uncertain 16_81739376_T->A 16 81739376 81739376 T A snp 212.84 1/1 18 8 0 8 1.0 intronic rs3968320 CMIP AU NM_030629 exon19 c.210128+167T>A 0.660743 0.7966 Uncertain 16_81739404_T->C 16 81739404 81739404 T C snp 95.28 1/1 9 4 0 4 1.0 intronic rs9936604 CMIP AU NM_030629 exon19 c.210128+195T>C 0.483027 0.6042 Uncertain 16_81740829_T->C 16 81740829 81740829 T C snp 458.77 0/1 99 35 16 19 0.54 intronic rs67721827 CMIP AU NM_030629 exon20 c.211608+140T>C 0.328075 0.1796 Uncertain 16_81743328_A->G 16 81743328 81743328 A G snp 1209.77 0/1 99 134 75 59 0.44 intronic rs68116357 CMIP AU NM_030629 exon21 c.214269-22A>G 0.361222 0.256 0.369540 0.3422 0.2828 Uncertain 16_81816580_C->G 16 81816580 81816580 C G snp 96.28 1/1 9 3 0 3 1.0 intronic rs6564919 PLCG2 AD 0.78095 0.7619 Uncertain 16_81816733_C->T 16 81816733 81816733 C T snp 611.77 0/1 99 52 22 30 0.58 intronic rs8045964 PLCG2 AD 0.424121 0.2718 0.413264 0.5194 0.3754 Uncertain 16_81816787_T->A 16 81816787 81816787 T A snp 1318.77 1/1 93 52 0 52 1.0 intronic rs4476171 PLCG2 AD 0.998003 1 Uncertain 16_81816818_C->T 16 81816818 81816818 C T snp 361.77 0/1 99 41 22 19 0.46 intronic rs72834729 PLCG2 AD 0.352236 0.4901 Uncertain 16_81819486_C->G 16 81819486 81819486 C G snp 587.77 0/1 99 53 30 23 0.43 intronic rs4354929 PLCG2 AD 0.461262 0.2768 Uncertain 16_81819768_T->C 16 81819768 81819768 T C snp 2341.77 1/1 99 77 0 77 1.0 exonic rs1143685 PLCG2 AD synonymous SNV NM_002661 exon2 c.T174C p.A58A 0.733227 0.8591 0.667992 0.7248 0.8731 Uncertain 16_81819820_G->A 16 81819820 81819820 G A snp 282.77 0/1 99 34 23 11 0.32 intronic rs4294811 PLCG2 AD NM_002661 exon2 c.193+33G>A 0.286142 0.5794 0.227600 0.2818 0.5774 Uncertain 16_81891998_G->C 16 81891998 81891998 G C snp 1906.77 0/1 99 153 67 86 0.56 intronic rs4341734 PLCG2 AD NM_002661 exon4 c.72367+37G>C 0.708267 0.7014 0.753504 0.7903 0.7058 Uncertain 16_81892042_GGA->- 16 81892042 81892044 GGA - indel 3899.73 0/1 99 132 58 74 0.56 intronic rs5818357 PLCG2 AD NM_002661 exon4 c.72367+81_72367+83delGGA 0.450479 0.6181 Uncertain 16_81892044_A->- 16 81892044 81892044 A - indel 1844.73 1/1 99 129 9 120 0.93 intronic rs561704859 PLCG2 AD NM_002661 exon4 c.72367+83delA 0.0199681 0.0337 Uncertain 16_81892048_A->C 16 81892048 81892048 A C snp 1425.77 0/1 99 125 63 62 0.5 intronic rs5016604 PLCG2 AD NM_002661 exon4 c.72367+87A>C 0.450479 0.6181 Uncertain 16_81892708_T->A 16 81892708 81892708 T A snp 989.77 0/1 99 73 36 37 0.51 intronic rs4888183 PLCG2 AD NM_002661 exon5 c.73126-12T>A 0.541134 0.631 0.556959 0.5509 0.6215 Uncertain 16_81902730_C->- 16 81902730 81902730 C - indel 1371.73 1/1 93 31 0 31 1.0 intronic rs77062887 PLCG2 AD NM_002661 exon6 c.83224-88delC 0.221845 0.4831 Uncertain 16_81914303_C->A 16 81914303 81914303 C A snp 129.03 1/1 12 4 0 4 1.0 intronic rs9936650 PLCG2 AD NM_002661 exon8 c.94920-211C>A 0.859625 0.998 Uncertain 16_81914583_C->T 16 81914583 81914583 C T snp 2560.77 1/1 99 94 1 93 0.99 intronic rs11865395 PLCG2 AD NM_002661 exon8 c.94964+25C>T 0.274161 0.2907 0.276459 0.3126 0.3197 Uncertain 16_81929488_C->T 16 81929488 81929488 C T snp 3415.77 0/1 99 250 104 146 0.58 exonic rs1143688 PLCG2 AD synonymous SNV NM_002661 exon13 c.C1149T p.D383D 0.40655 0.7113 0.288480 0.4158 0.7058 Uncertain 16_81931362_T->C 16 81931362 81931362 T C snp 653.77 0/1 99 44 21 23 0.52 intronic rs8053636 PLCG2 AD NM_002661 exon13 c.109938+1830T>C 0.694089 0.7827 Uncertain 16_81931403_A->G 16 81931403 81931403 A G snp 1450.77 0/1 99 103 47 56 0.54 intronic rs8049305 PLCG2 AD NM_002661 exon13 c.109938+1871A>G 0.409545 0.7262 Uncertain 16_81939150_G->C 16 81939150 81939150 G C snp 1418.77 1/1 99 46 0 46 1.0 intronic rs4435248 PLCG2 AD NM_002661 exon15 c.119518+38G>C 0.795527 0.9554 0.746397 0.8227 0.9723 Uncertain 16_81939237_C->T 16 81939237 81939237 C T snp 139.03 1/1 12 4 0 4 1.0 intronic rs4264387 PLCG2 AD NM_002661 exon15 c.119518+125C>T 0.78115 0.9554 Uncertain 16_81941319_C->T 16 81941319 81941319 C T snp 2314.77 1/1 99 82 0 82 1.0 exonic rs1143689 PLCG2 AD synonymous SNV NM_002661 exon16 c.C1497T p.A499A 0.77496 0.9544 0.722519 0.7837 0.9736 Uncertain 16_81941444_C->T 16 81941444 81941444 C T snp 382.77 0/1 99 29 13 16 0.55 intronic rs71400183 PLCG2 AD NM_002661 exon16 c.121785+65C>T 0.191494 0.1339 Uncertain 16_81946423_C->T 16 81946423 81946423 C T snp 738.77 0/1 99 68 38 30 0.44 intronic rs4243222 PLCG2 AD NM_002661 exon19 c.126727+102C>T 0.503594 0.7748 Uncertain 16_81946471_G->T 16 81946471 81946471 G T snp 150.77 0/1 99 28 18 10 0.36 intronic rs4243223 PLCG2 AD NM_002661 exon19 c.126727+150G>T 0.503994 0.7748 Uncertain 16_81953081_T->C 16 81953081 81953081 T C snp 824.77 1/1 60 32 0 32 1.0 intronic rs12448130 PLCG2 AD NM_002661 exon20 c.133494-7T>C 0.988618 1 0.988431 0.9969 0.9997 Uncertain 16_81953368_A->G 16 81953368 81953368 A G snp 745.77 1/1 57 26 0 26 1.0 intronic rs12448152 PLCG2 AD NM_002661 exon20 c.133675+99A>G 1 1 Uncertain 16_81954789_C->G 16 81954789 81954789 C G snp 1248.77 0/1 99 132 80 52 0.39 intronic rs12446127 PLCG2 AD NM_002661 exon21 c.135208-13C>G 0.519768 0.7788 0.468146 0.5893 0.7825 Uncertain 16_81956927_C->G 16 81956927 81956927 C G snp 359.78 1/1 27 12 0 12 1.0 intronic rs4485360 PLCG2 AD NM_002661 exon22 c.137495-162C>G 0.992412 1 Uncertain 16_81962071_A->C 16 81962071 81962071 A C snp 1248.77 1/1 90 42 0 42 1.0 intronic rs4366702 PLCG2 AD NM_002661 exon24 c.142568-91A>C 0.688898 0.8145 Uncertain 16_81971403_T->C 16 81971403 81971403 T C snp 1767.77 0/1 99 122 49 73 0.6 exonic rs1071644 PLCG2 AD synonymous SNV NM_002661 exon28 c.T3093C p.N1031N 0.313898 0.3442 0.405602 0.4487 0.3646 Uncertain 16_81971582_A->G 16 81971582 81971582 A G snp 110.77 0/1 99 9 5 4 0.44 intronic rs4258608 PLCG2 AD NM_002661 exon28 c.151914+74A>G 0.370008 0.0665 Uncertain 16_81972289_A->C 16 81972289 81972289 A C snp 50.74 1/1 6 2 0 2 1.0 intronic rs4888192 PLCG2 AD NM_002661 exon29 c.152811-116A>C 0.390176 0.2103 Uncertain 16_81973474_C->A 16 81973474 81973474 C A snp 1095.77 1/1 81 38 0 38 1.0 intronic rs4405546 PLCG2 AD NM_002661 exon30 c.153902-22C>A 0.922125 1 0.915427 0.9296 0.9991 Uncertain 16_81973805_A->T 16 81973805 81973805 A T snp 185.77 0/1 99 17 8 9 0.53 intronic rs12923387 PLCG2 AD NM_002661 exon30 c.154070+141A>T 0.194089 0.0575 Uncertain 16_81973807_-->TGCA 16 81973807 81973807 - TGCA indel 411.73 0/1 99 16 8 8 0.5 intronic rs141767011 PLCG2 AD NM_002661 exon30 c.154070+143insTGCA 0.194289 0.0585 Uncertain 16_81991325_G->T 16 81991325 81991325 G T snp 46.77 0/1 33 3 1 2 0.67 intronic rs7201504 PLCG2 AD NM_002661 exon33 c.171966-235G>T 0.866214 0.9325 Uncertain 16_82124776_G->T 16 82124776 82124776 G T snp 2934.77 1/1 99 104 0 104 1.0 intronic rs2955154 HSD17B2 AU NM_002153 exon4 c.55615+132G>T 1 1 1 1 Uncertain 16_82182832_C->G 16 82182832 82182832 C G snp 1550.77 1/1 99 46 0 46 1.0 intronic rs11859599 MPHOSPH6 AU NM_005792 exon2 c.578-81C>G 0.842452 0.8155 Uncertain 16_82197883_G->A 16 82197883 82197883 G A snp 391.77 1/1 30 11 0 11 1.0 intronic rs2303266 MPHOSPH6 AU NM_005792 exon4 c.15464+84G>A 0.354633 0.4177 Uncertain 16_82203705_A->C 16 82203705 82203705 A C snp 4364.77 1/1 99 157 0 157 1.0 intronic rs2303265 MPHOSPH6 AU NM_005792 exon5 c.21394-24A>C 0.642971 0.7659 0.644431 0.6783 0.7407 Uncertain 16_82203711_G->T 16 82203711 82203711 G T snp 4311.77 1/1 99 166 0 166 1.0 intronic rs2303264 MPHOSPH6 AU NM_005792 exon5 c.21394-18G>T 0.724441 0.7659 0.714484 0.7332 0.7488 Uncertain 16_82203742_T->C 16 82203742 82203742 T C snp 5347.77 1/1 99 203 0 203 1.0 exonic rs1134847 MPHOSPH6 AU synonymous SNV NM_005792 exon1 c.A39G p.L13L 0.642572 0.7649 0.650377 0.7004 0.7665 Uncertain 16_82203758_C->T 16 82203758 82203758 C T snp 5041.77 1/1 99 193 0 193 1.0 exonic rs2303262 MPHOSPH6 AU nonsynonymous SNV NM_005792 exon1 c.G23A p.R8K 0.869409 0.8492 0.818966 0.7916 0.8320 1 T 0.000 P -0.969 T 0.0 T 0.0 T Pathogenic 16_82203768_G->T 16 82203768 82203768 G T snp 4890.77 1/1 99 190 0 190 1.0 exonic rs2303261 MPHOSPH6 AU synonymous SNV NM_005792 exon1 c.C13A p.R5R 0.642572 0.7649 0.643231 0.6841 0.7562 Uncertain 16_82203786_C->G 16 82203786 82203786 C G snp 1829.77 0/1 99 174 91 83 0.48 UTR5 rs2303260 MPHOSPH6 AU 0.23143 0.1716 0.335520 0.3420 0.1412 Uncertain 16_82672920_G->A 16 82672920 82672920 G A snp 2188.77 1/1 99 73 0 73 1.0 intronic rs12444222 CDH13 AU NM_001220488 exon2 c.12302-44G>A 0.416134 0.6865 0.4763 0.6462 Uncertain 16_82673047_C->T 16 82673047 82673047 C T snp 4383.77 1/1 99 161 0 161 1.0 intronic rs4782724 CDH13 AU NM_001220488 exon2 c.12408-23C>T 0.938698 1 0.9959 1 0.35 T 0.0 P -0.999 T Uncertain 16_82752831_G->T 16 82752831 82752831 G T snp 74.77 0/1 99 7 4 3 0.43 intronic rs9936126 CDH13 AU NM_001220488 exon2 c.12408+79761G>T 0.128794 0.256 Uncertain 16_82882118_A->G 16 82882118 82882118 A G snp 344.78 1/1 27 9 0 9 1.0 intronic rs1585533 CDH13 AU NM_001257 exon2 c.231269-9848A>G 0.675719 0.873 Uncertain 16_82882188_G->- 16 82882188 82882188 G - indel 1953.73 1/1 99 60 0 60 1.0 intronic rs35909991 CDH13 AU NM_001257 exon2 c.231269-9778delG 0.652157 0.87 Uncertain 16_82917768_G->C 16 82917768 82917768 G C snp 2102.77 1/1 99 72 0 72 1.0 intronic rs929847 CDH13 AU NM_001257 exon2 c.231381+25690G>C 0.801318 0.8889 0.7555 0.9091 Uncertain 16_82917852_T->C 16 82917852 82917852 T C snp 2960.77 1/1 99 110 0 110 1.0 intronic rs929848 CDH13 AU NM_001257 exon2 c.231381+25774T>C 0.804912 0.9018 Uncertain 16_83065664_G->A 16 83065664 83065664 G A snp 940.77 0/1 99 100 60 40 0.4 exonic rs6565105 CDH13 AU synonymous SNV NM_001257 exon3 c.G207A p.S69S 0.534145 0.4573 0.553459 0.5820 0.4932 Uncertain 16_83065904_T->C 16 83065904 83065904 T C snp 608.77 0/1 99 50 21 29 0.58 intronic rs7197530 CDH13 AU NM_001257 exon3 c.405126+81T>C 0.284145 0.1865 Uncertain 16_83065965_T->A 16 83065965 83065965 T A snp 193.77 0/1 99 15 7 8 0.53 intronic rs2228685 CDH13 AU NM_001257 exon3 c.405126+142T>A 0.529153 0.4663 Uncertain 16_83159350_A->C 16 83159350 83159350 A C snp 996.77 1/1 72 34 0 34 1.0 intronic rs7196370 CDH13 AU NM_001257 exon4 c.498409+244A>C 0.910144 0.9375 Uncertain 16_83205098_A->T 16 83205098 83205098 A T snp 365.77 0/1 99 35 21 14 0.4 intronic rs75527425 CDH13 AU NM_001220492 exon5 c.544429-28A>T 0.1248 0.1181 0.0345 0.1212 Uncertain 16_83205106_T->A 16 83205106 83205106 T A snp 453.77 0/1 99 43 26 17 0.4 intronic rs78371107 CDH13 AU NM_001220492 exon5 c.544429-20T>A 0.0367412 0.1181 0.0251 0.1212 Uncertain 16_83205185_G->T 16 83205185 83205185 G T snp 1181.77 0/1 99 147 88 59 0.4 intronic rs76964433 CDH13 AU NM_001220492 exon5 c.544475+13G>T 0.0854633 0.1181 0.0319 0.1212 Uncertain 16_83205228_G->C 16 83205228 83205228 G C snp 1410.77 0/1 99 170 102 68 0.4 intronic rs77405883 CDH13 AU NM_001220492 exon5 c.544475+56G>C 0.0852636 0.1171 Uncertain 16_83205290_G->T 16 83205290 83205290 G T snp 1143.77 0/1 99 129 78 51 0.4 intronic rs56165681 CDH13 AU NM_001220492 exon5 c.544475+118G>T 0.273762 0.256 Uncertain 16_83205395_C->G 16 83205395 83205395 C G snp 325.77 0/1 99 24 13 11 0.46 intronic rs80050029 CDH13 AU NM_001220492 exon5 c.544475+223C>G 0.0852636 0.1171 Uncertain 16_83205417_A->T 16 83205417 83205417 A T snp 182.77 0/1 99 12 6 6 0.5 intronic rs77782789 CDH13 AU NM_001220492 exon5 c.544475+245A>T 0.0852636 0.1171 Uncertain 16_83214480_C->A 16 83214480 83214480 C A snp 826.77 0/1 99 88 49 39 0.44 intronic rs7188594 CDH13 AU NM_001220491 exon5 c.553777+6C>A 0.45008 0.2708 0.3689 0.2660 Uncertain 16_83251210_G->A 16 83251210 83251210 G A snp 254.8 1/1 21 7 0 7 1.0 intronic rs4572385 CDH13 AU NM_001257 exon5 c.590405+108G>A 0.714257 0.9563 Uncertain 16_83541720_A->G 16 83541720 83541720 A G snp 49.74 1/1 6 2 0 2 1.0 intronic rs62042276 CDH13 AU NM_001257 exon7 c.859563+21460A>G Uncertain 16_83541724_A->G 16 83541724 83541724 A G snp 49.74 1/1 6 2 0 2 1.0 intronic rs62042277 CDH13 AU NM_001257 exon7 c.859563+21464A>G Uncertain 16_83542061_C->T 16 83542061 83542061 C T snp 219.84 1/1 18 7 0 7 1.0 intronic rs4782540 CDH13 AU NM_001257 exon7 c.859563+21801C>T 0.597444 0.8383 0.5537 0.8966 Uncertain 16_83658649_C->G 16 83658649 83658649 C G snp 3774.77 1/1 99 138 0 138 1.0 intronic rs11639522 CDH13 AU NM_001257 exon8 c.975502+22450C>G 0.476038 0.7679 Uncertain 16_83816828_A->G 16 83816828 83816828 A G snp 1719.77 1/1 99 49 0 49 1.0 intronic rs153654 CDH13 AU NM_001257 exon13 c.1156161-30A>G 0.849241 0.7917 0.859897 0.8577 0.8001 Uncertain 16_83817019_A->G 16 83817019 83817019 A G snp 1812.77 1/1 99 62 0 62 1.0 exonic rs1048612 CDH13 AU synonymous SNV NM_001257 exon13 c.A2076G p.A692A 0.816094 0.7788 0.814908 0.8108 0.7878 Uncertain 16_83841560_G->T 16 83841560 83841560 G T snp 96.28 1/1 9 3 0 3 1.0 UTR5 rs3743623 HSBP1 AU 0.32528 0.1359 Uncertain 16_83842521_A->C 16 83842521 83842521 A C snp 46.77 0/1 33 3 1 2 0.67 intronic rs76191599 HSBP1 AU NM_001537 exon2 c.670+170A>C 0.0421326 0.0833 Uncertain 16_83842792_G->T 16 83842792 83842792 G T snp 430.77 1/1 33 13 0 13 1.0 intronic rs8053753 HSBP1 AU NM_001537 exon3 c.1228-117G>T 0.57488 0.381 Uncertain 16_83873259_G->A 16 83873259 83873259 G A snp 547.77 1/1 42 16 0 16 1.0 intergenic rs435383 HSBP1 AU 0.986422 1 Uncertain 16_83873285_G->A 16 83873285 83873285 G A snp 650.77 1/1 48 20 0 20 1.0 intergenic rs435367 HSBP1 AU 0.98143 0.996 Uncertain 16_83873300_-->TG 16 83873300 83873300 - TG indel 566.9 0/1 14 25 8 17 0.68 intergenic rs146203605 HSBP1 AU Uncertain 16_83873471_G->A 16 83873471 83873471 G A snp 287.77 0/1 99 22 10 12 0.55 intergenic rs34854190 HSBP1 AU 0.33107 0.2679 Uncertain 16_83886469_TGCACACA->- 16 83886469 83886476 TGCACACA - indel 11618.7 1/1 99 124 0 124 1.0 intergenic rs150603407 HSBP1 AU 0.621206 0.7044 Uncertain 16_83933296_T->C 16 83933296 83933296 T C snp 1329.77 1/1 96 46 0 46 1.0 intronic rs446036 MLYCD AR NM_012213 exon1 c.528+19T>C 0.957069 1 0.967561 0.9959 1 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter|criteria_provided\x2c_single_submitter;CLNACC=RCV000081528.3|RCV000126780.1;CLNDSDB=MedGen|MedGen;CLNDSDBID=CN169374|CN221809 Uncertain 16_83940398_GAAA->- 16 83940398 83940401 GAAA - indel 640.73 0/1 96 13 2 11 0.85 intronic rs10584563 MLYCD AR NM_012213 exon2 c.7842-193_7842-190delGAAA 0.0980431 0.1121 Uncertain 16_83940480_A->G 16 83940480 83940480 A G snp 856.77 0/1 99 60 21 39 0.65 intronic rs3815804 MLYCD AR NM_012213 exon2 c.7842-111A>G 0.257987 0.2569 Uncertain 16_83940494_C->T 16 83940494 83940494 C T snp 679.77 0/1 99 68 44 24 0.35 intronic rs3815805 MLYCD AR NM_012213 exon2 c.7842-97C>T 0.222843 0.3601 Uncertain 16_83940584_C->T 16 83940584 83940584 C T snp 1510.77 0/1 99 128 66 62 0.48 intronic rs3815806 MLYCD AR NM_012213 exon2 c.7842-7C>T 0.0984425 0.1121 0.061804 0.0361 0.0800 Uncertain 16_83949765_C->T 16 83949765 83949765 C T snp 183.77 0/1 99 35 27 8 0.23 UTR3 rs74830340 MLYCD AR 0.0634984 0.1042 Uncertain 16_83949843_A->G 16 83949843 83949843 A G snp 450.77 0/1 99 61 41 20 0.33 downstream rs78662249 MLYCD AR 0.0632987 0.1062 Uncertain 16_83949964_TGTA->- 16 83949964 83949967 TGTA - indel 708.73 0/1 99 18 6 12 0.67 downstream rs142094163 MLYCD AR 0.0301518 0.1062 Uncertain 16_83950831_G->T 16 83950831 83950831 G T snp 158.77 0/1 99 8 3 5 0.63 intergenic MLYCD AR Uncertain 16_83950832_A->G 16 83950832 83950832 A G snp 156.77 0/1 92 8 3 5 0.63 intergenic MLYCD AR Uncertain 16_83950848_GTGC->- 16 83950848 83950851 GTGC - indel 669.73 0/1 99 20 8 12 0.6 intergenic MLYCD AR Uncertain 16_83950858_C->A 16 83950858 83950858 C A snp 545.77 0/1 99 31 13 18 0.58 intergenic rs112849523 MLYCD AR Uncertain 16_83982460_A->G 16 83982460 83982460 A G snp 921.77 1/1 69 26 0 26 1.0 intergenic rs4782863 MLYCD AR 0.788938 0.9058 0.6100 0.9130 Uncertain 16_83982960_C->T 16 83982960 83982960 C T snp 3082.77 1/1 99 115 1 114 0.99 intergenic rs4782864 MLYCD AR 0.578075 0.8075 0.6105 0.8035 Uncertain 16_83983071_C->T 16 83983071 83983071 C T snp 4146.77 1/1 99 156 0 156 1.0 intergenic rs4782865 MLYCD AR 0.571885 0.8056 0.510306 0.6083 0.8061 1 T 0.0 P -0.983 T 0.074 T 0.008 T Uncertain 16_83983755_G->A 16 83983755 83983755 G A snp 788.77 1/1 60 21 0 21 1.0 intergenic rs2245008 MLYCD AR 0.906749 0.999 Uncertain 16_83983775_T->C 16 83983775 83983775 T C snp 1196.77 1/1 87 35 0 35 1.0 intergenic rs12933677 MLYCD AR 0.459265 0.7788 Uncertain 16_83983867_C->T 16 83983867 83983867 C T snp 2330.77 1/1 99 84 0 84 1.0 intergenic rs2457543 MLYCD AR 0.689696 0.8909 Uncertain 16_83983892_C->T 16 83983892 83983892 C T snp 2152.77 1/1 99 75 1 74 0.99 intergenic rs62045882 MLYCD AR 0.760982 0.8948 Uncertain 16_83983893_A->G 16 83983893 83983893 A G snp 2165.77 1/1 99 75 0 75 1.0 intergenic rs2245005 MLYCD AR 0.914936 0.999 Uncertain 16_83983920_G->A 16 83983920 83983920 G A snp 1826.77 1/1 99 66 0 66 1.0 intergenic rs57653517 MLYCD AR 0.728834 0.8958 Uncertain 16_83983964_ACACAC->- 16 83983964 83983969 ACACAC - indel 1561.73 1/1 60 25 0 25 1.0 intergenic rs36209401 MLYCD AR Uncertain 16_83984009_C->T 16 83984009 83984009 C T snp 48.74 1/1 6 10 1 9 0.9 intergenic rs12932894 MLYCD AR Uncertain 16_83984544_G->A 16 83984544 83984544 G A snp 161.9 1/1 15 8 0 8 1.0 intergenic rs62045884 MLYCD AR 0.476038 0.4921 Uncertain 16_83984576_T->C 16 83984576 83984576 T C snp 272.03 0/1 12 15 2 13 0.87 intergenic MLYCD AR Uncertain 16_83984579_CA->- 16 83984579 83984580 CA - indel 451 0/1 12 12 1 11 0.92 intergenic MLYCD AR Uncertain 16_83984776_A->C 16 83984776 83984776 A C snp 3314.77 1/1 99 121 1 120 0.99 intergenic rs28555129 MLYCD AR 0.755791 0.8958 0.706989 0.6627 0.8952 1 T 0.000 P -0.989 T 0.0 T 0.0 T Uncertain 16_83984844_A->C 16 83984844 83984844 A C snp 1676.77 1/1 99 59 0 59 1.0 intergenic rs2244899 MLYCD AR 0.919928 0.999 0.863806 0.8603 0.9961 1 T 0.000 P -0.981 T 0.0 T 0.0 T Uncertain 16_83984850_C->G 16 83984850 83984850 C G snp 1540.77 1/1 99 57 1 56 0.98 intergenic rs2244898 MLYCD AR 0.919529 0.996 0.863559 0.8621 0.9964 1 T 0.0 P -0.870 T 0.0 T 0.0 T Uncertain 16_83986885_C->G 16 83986885 83986885 C G snp 5583.77 1/1 99 217 0 217 1.0 UTR5 rs7203516 OSGIN1 AU 0.611621 0.7887 0.6016 0.7101 Uncertain 16_83986888_G->A 16 83986888 83986888 G A snp 5589.77 1/1 99 221 0 221 1.0 UTR5 rs7203864 OSGIN1 AU 0.611621 0.7887 0.6014 0.7059 Uncertain 16_83992785_G->A 16 83992785 83992785 G A snp 2121.77 1/1 99 75 0 75 1.0 intronic rs2665296 OSGIN1 AU NM_182981 exon3 c.1588-79G>A 0.969249 1 Uncertain 16_83994569_G->T 16 83994569 83994569 G T snp 2387.77 1/1 99 86 0 86 1.0 intronic rs2136662 OSGIN1 AU NM_182981 exon5 c.3309-16G>T 0.71246 0.7937 0.648462 0.6449 0.8313 Uncertain 16_84035446_C->G 16 84035446 84035446 C G snp 2276.77 0/1 99 179 82 97 0.54 exonic rs2271298 NECAB2 AU nonsynonymous SNV NM_019065 exon12 c.C1057G p.L353V 0.390375 0.4683 0.295923 0.2084 0.4601 0.67 T 0.0 P -0.974 T 0.0 T 0.0 T Pathogenic 16_84050359_A->T 16 84050359 84050359 A T snp 357.77 0/1 99 32 18 14 0.44 intronic rs13380582 SLC38A8 AR NM_001080442 exon3 c.6944+27A>T 0.0904553 0.1488 0.069613 0.0666 0.1503 Uncertain 16_84050369_C->T 16 84050369 84050369 C T snp 240.77 0/1 99 23 14 9 0.39 intronic rs80036206 SLC38A8 AR NM_001080442 exon3 c.6944+37C>T 0.0732827 0.1438 0.050624 0.0620 0.1479 Uncertain 16_84050970_G->T 16 84050970 84050970 G T snp 480.77 0/1 99 45 24 21 0.47 intronic rs28669064 SLC38A8 AR NM_001080442 exon4 c.7504+78G>T 0.0820687 0.1409 Uncertain 16_84063420_G->A 16 84063420 84063420 G A snp 41.74 1/1 6 2 0 2 1.0 intronic rs4782578 SLC38A8 AR NM_001080442 exon6 c.19768+264G>A 0.306909 0.4177 Uncertain 16_84065339_C->T 16 84065339 84065339 C T snp 43.77 0/1 62 4 2 2 0.5 intronic rs11865522 SLC38A8 AR NM_001080442 exon7 c.22083-132C>T 0.185104 0.2986 Uncertain 16_84065710_A->G 16 84065710 84065710 A G snp 525.77 1/1 39 19 0 19 1.0 intronic rs907043 SLC38A8 AR NM_001080442 exon7 c.22185+137A>G 0.857228 0.8968 Uncertain 16_84065720_G->A 16 84065720 84065720 G A snp 475.77 1/1 36 16 0 16 1.0 intronic rs907044 SLC38A8 AR NM_001080442 exon7 c.22185+147G>A 0.420527 0.5665 Uncertain 16_84066739_G->A 16 84066739 84066739 G A snp 99.28 1/1 9 3 0 3 1.0 intronic rs62045931 SLC38A8 AR NM_001080442 exon8 c.23544-193G>A 0.26238 0.3829 Uncertain 16_84070238_C->A 16 84070238 84070238 C A snp 1082.77 1/1 78 38 0 38 1.0 intronic rs8057543 SLC38A8 AR NM_001080442 exon9 c.26918-68C>A 0.442692 0.5923 Uncertain 16_84070500_C->G 16 84070500 84070500 C G snp 581.77 1/1 45 21 0 21 1.0 exonic rs1317524 SLC38A8 AR synonymous SNV NM_001080442 exon2 c.G195C p.S65S 0.441094 0.5863 0.370308 0.3784 0.5788 Uncertain 16_84070510_G->A 16 84070510 84070510 G A snp 439.77 1/1 33 15 0 15 1.0 splicing rs1876962 SLC38A8 AR NM_001080442 exon9 c.27117+5G>A 0.445687 0.5893 0.309758 0.3866 0.5835 Pathogenic 16_84070514_A->C 16 84070514 84070514 A C snp 397.77 1/1 30 14 0 14 1.0 intronic rs1876960 SLC38A8 AR NM_001080442 exon9 c.27117+9A>C 0.442093 0.5893 0.296875 0.3850 0.5838 Uncertain 16_84075563_C->A 16 84075563 84075563 C A snp 196.77 0/1 99 16 7 9 0.56 intronic rs1105355 SLC38A8 AR NM_001080442 exon10 c.32185-10C>A 0.585064 0.6895 0.567692 0.5480 0.6641 Uncertain 16_84088047_C->T 16 84088047 84088047 C T snp 3902.77 1/1 99 135 0 135 1.0 UTR3 rs11607 MBTPS1 AU 0.36222 0.4107 0.337923 0.3727 0.4189 Uncertain 16_84088268_G->C 16 84088268 84088268 G C snp 464.77 0/1 99 51 33 18 0.35 intronic rs74035120 MBTPS1 AU NM_003791 exon1 c.197+18G>C 0.127995 0.0635 0.132385 0.1077 0.0724 Uncertain 16_84088968_T->C 16 84088968 84088968 T C snp 849.77 0/1 99 76 40 36 0.47 intronic rs8053890 MBTPS1 AU NM_003791 exon2 c.1556-641T>C 0.271366 0.3571 Uncertain 16_84089207_G->T 16 84089207 84089207 G T snp 534.77 0/1 99 57 34 23 0.4 intronic rs6563996 MBTPS1 AU NM_003791 exon2 c.1556-402G>T 0.351438 0.4137 Uncertain 16_84089767_C->T 16 84089767 84089767 C T snp 1053.77 1/1 75 38 0 38 1.0 intronic rs17849043 MBTPS1 AU NM_003791 exon2 c.1687+27C>T 0.365615 0.4137 0.341231 0.3616 0.4178 Uncertain 16_84093062_G->A 16 84093062 84093062 G A snp 1222.77 0/1 99 138 82 56 0.41 intronic rs2280024 MBTPS1 AU NM_003791 exon3 c.4980+29G>A 0.461661 0.5337 0.483000 0.5200 0.5091 Uncertain 16_84093152_T->G 16 84093152 84093152 T G snp 234.77 0/1 99 28 19 9 0.32 intronic rs2280023 MBTPS1 AU NM_003791 exon3 c.4980+119T>G 0.256589 0.3601 Uncertain 16_84101240_-->ACATTTT 16 84101240 84101240 - ACATTTT indel 2194.73 0/1 99 64 41 23 0.36 intronic rs3835163 MBTPS1 AU NM_003791 exon8 c.13218-31insACATTTT 0.505591 0.5823 0.492801 0.5277 0.5400 Uncertain 16_84101875_C->T 16 84101875 84101875 C T snp 83.77 0/1 69 5 2 3 0.6 intronic rs3817151 MBTPS1 AU NM_003791 exon9 c.13890-68C>T 0.406749 0.4613 Uncertain 16_84102135_G->C 16 84102135 84102135 G C snp 1048.77 0/1 99 92 47 45 0.49 intronic rs870584 MBTPS1 AU NM_003791 exon9 c.14006+76G>C 0.494209 0.5437 Uncertain 16_84104478_C->T 16 84104478 84104478 C T snp 269.8 1/1 21 9 0 9 1.0 intronic rs1980011 MBTPS1 AU NM_003791 exon11 c.16328+97C>T 0.708466 0.8919 Uncertain 16_84115279_T->C 16 84115279 84115279 T C snp 366.77 0/1 99 21 10 11 0.52 intronic rs3826139 MBTPS1 AU NM_003791 exon13 c.27298-72T>C 0.275759 0.4226 Uncertain 16_84115483_G->A 16 84115483 84115483 G A snp 5567.77 1/1 99 203 0 203 1.0 exonic rs3743631 MBTPS1 AU synonymous SNV NM_003791 exon11 c.C1317T p.P439P 0.529153 0.6974 0.455308 0.4785 0.7080 Uncertain 16_84115561_G->A 16 84115561 84115561 G A snp 1899.77 0/1 99 157 80 77 0.49 intronic rs3743632 MBTPS1 AU NM_003791 exon13 c.27460+48G>A 0.288938 0.4226 0.263077 0.3055 0.4212 Uncertain 16_84115610_G->A 16 84115610 84115610 G A snp 1282.77 0/1 99 82 33 49 0.6 intronic rs3743633 MBTPS1 AU NM_003791 exon13 c.27460+97G>A 0.228235 0.2768 Uncertain 16_84120784_C->T 16 84120784 84120784 C T snp 54.74 1/1 6 2 0 2 1.0 intronic rs869426 MBTPS1 AU NM_003791 exon15 c.32909-178C>T 0.248602 0.374 Uncertain 16_84121079_A->- 16 84121079 84121079 A - indel 202.77 1/1 20 39 2 37 0.95 intronic rs398030055 MBTPS1 AU NM_003791 exon15 c.33012+14delA 0.533946 0.619 0.4245 0.4178 Uncertain 16_84124602_G->A 16 84124602 84124602 G A snp 276.77 0/1 99 42 25 17 0.4 intronic rs8045891 MBTPS1 AU NM_003791 exon16 c.36494+55G>A 0.321086 0.4901 0.358395 Uncertain 16_84124605_A->- 16 84124605 84124605 A - indel 253.73 0/1 40 38 7 31 0.82 intronic rs11325729 MBTPS1 AU NM_003791 exon16 c.36494+58delA 0.500998 0.5992 Uncertain 16_84125270_A->G 16 84125270 84125270 A G snp 1071.77 0/1 99 101 55 46 0.46 intronic rs8050801 MBTPS1 AU NM_003791 exon17 c.37283-66A>G 0.215655 0.3264 Uncertain 16_84126695_C->T 16 84126695 84126695 C T snp 1611.77 0/1 99 128 61 67 0.52 intronic rs141089380 MBTPS1 AU NM_003791 exon18 c.38739-97C>T 0.00159744 0.005 Uncertain 16_84132533_G->A 16 84132533 84132533 G A snp 976.78 0/1 0 31 2 29 0.94 intronic rs4782584 MBTPS1 AU NM_003791 exon21 c.44604-124G>A 0.276957 0.4226 Uncertain 16_84132628_-->AC 16 84132628 84132628 - AC indel 7558.73 1/1 99 148 1 147 0.99 intronic rs10690442 MBTPS1 AU NM_003791 exon21 c.44604-29insAC 0.928914 0.9335 0.941773 0.9200 0.9427 Uncertain 16_84135493_A->G 16 84135493 84135493 A G snp 677.77 1/1 51 19 0 19 1.0 UTR5 rs907045 MBTPS1 AU 0.779752 0.8333 Uncertain 16_84158121_G->C 16 84158121 84158121 G C snp 1048.77 0/1 99 72 30 42 0.58 UTR3 rs143202733 HSDL1 AU 0.00159744 0.005 Uncertain 16_84158248_G->C 16 84158248 84158248 G C snp 1567.77 0/1 99 173 97 76 0.44 exonic rs4378600 HSDL1 AU nonsynonymous SNV NM_031463 exon6 c.C980G p.S327C 0.247204 0.2331 0.271231 0.2620 0.2041 0.05 T 0.0 P -1.102 T 0.938 T 0.319 D Pathogenic 16_84179205_G->A 16 84179205 84179205 G A snp 237.77 0/1 99 17 9 8 0.47 intronic rs200309272 DNAAF1 AR NM_178452 exon1 c.124+36G>A 0.00159744 0.005 0.0004 0.0079 Uncertain 16_84205691_G->A 16 84205691 84205691 G A snp 52.74 1/1 6 2 0 2 1.0 intronic rs60530305 DNAAF1 AR NM_178452 exon9 c.26820-174G>A 0.291534 0.4315 Uncertain 16_84205726_G->A 16 84205726 84205726 G A snp 65.77 0/1 94 10 7 3 0.3 intronic rs12926474 DNAAF1 AR NM_178452 exon9 c.26820-139G>A 0.560503 0.6329 Uncertain 16_84209815_C->G 16 84209815 84209815 C G snp 1296.77 0/1 99 126 71 55 0.44 exonic rs2288021 DNAAF1 AR nonsynonymous SNV NM_178452 exon11 c.C1975G p.L659V 0.13139 0.0972 0.159231 0.1979 0.1170 0.16 T 0.000 P -0.952 T 0.013 T 0.037 T CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000150419.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 16_84217062_C->T 16 84217062 84217062 C T snp 4574.77 1/1 99 150 0 150 1.0 exonic rs4782591 TAF1C AU nonsynonymous SNV NM_005679 exon4 c.G272A p.C91Y 0.9998 1 0.998230 0.9989 1 1 T 0.0 P -0.931 T 0.0 T 0.0 T Pathogenic 16_84270565_-->CCAGCTCCT 16 84270565 84270565 - CCAGCTCCT indel 4402.73 0/1 99 160 71 89 0.56 exonic rs199778793 KCNG4 AU nonframeshift insertion NM_172347 exon2 c.526_527insAGGAGCTGG p.A176delinsEELA 0.0309505 0.0694 0.017073 0.0104 0.0630 Uncertain 16_84270743_G->A 16 84270743 84270743 G A snp 6412.77 1/1 99 250 3 247 0.99 exonic rs3803641 KCNG4 AU nonsynonymous SNV NM_172347 exon2 c.C349T p.P117S 0.0980431 0.2163 0.021615 0.0542 0.2005 0 D 1.000 P -1.145 T 1.0 D 1.0 D Pathogenic 16_84271158_C->A 16 84271158 84271158 C A snp 1397.77 0/1 99 129 69 60 0.47 intronic rs3803640 KCNG4 AU NM_172347 exon2 c.15309+27C>A 0.269169 0.4077 Uncertain 16_84271281_A->T 16 84271281 84271281 A T snp 155.77 0/1 99 9 3 6 0.67 intronic rs4782598 KCNG4 AU NM_172347 exon2 c.15309+150A>T 0.17492 0.2123 Uncertain 16_84328494_C->T 16 84328494 84328494 C T snp 546.77 0/1 99 38 19 19 0.5 UTR5 rs400345 WFDC1 AU 0.308107 0.4087 Uncertain 16_84328752_G->T 16 84328752 84328752 G T snp 2584.77 1/1 99 95 0 95 1.0 intronic rs369797 WFDC1 AU NM_001282467 exon1 c.144+31G>T 0.923522 1 0.921462 0.9780 1 Uncertain 16_84328756_G->C 16 84328756 84328756 G C snp 2594.77 1/1 99 92 0 92 1.0 intronic rs401782 WFDC1 AU NM_001282467 exon1 c.144+35G>C 0.920527 1 0.917615 0.9769 1 Uncertain 16_84328826_A->G 16 84328826 84328826 A G snp 766.77 1/1 60 23 0 23 1.0 intronic rs429725 WFDC1 AU NM_001282467 exon1 c.144+105A>G 0.920327 1 Uncertain 16_84351828_G->A 16 84351828 84351828 G A snp 2510.77 1/1 99 97 0 97 1.0 intronic rs187372 WFDC1 AU NM_001282467 exon3 c.23300-49G>A 0.303514 0.5863 0.221923 0.2942 0.5841 Uncertain 16_84353291_C->A 16 84353291 84353291 C A snp 90.28 1/1 9 3 0 3 1.0 intronic rs370578 WFDC1 AU NM_001282467 exon4 c.24600+114C>A 0.664137 0.7639 Uncertain 16_84357925_G->T 16 84357925 84357925 G T snp 917.77 1/1 66 33 0 33 1.0 intronic rs244786 WFDC1 AU NM_001282467 exon5 c.29447-99G>T 0.947085 1 Uncertain 16_84358121_A->C 16 84358121 84358121 A C snp 689.77 1/1 51 22 0 22 1.0 intronic rs244787 WFDC1 AU NM_001282467 exon5 c.29489+55A>C 0.979034 1 0.975909 Uncertain 16_84438512_G->A 16 84438512 84438512 G A snp 2638.77 1/1 99 90 0 90 1.0 intronic rs11149650 ATP2C2 AU NM_001286527 exon3 c.36512-221G>A 0.985024 1 0.9975 1 Uncertain 16_84444113_C->T 16 84444113 84444113 C T snp 691.77 1/1 51 18 0 18 1.0 intronic rs2291006 ATP2C2 AU NM_001291454 exon3 c.2099-60C>T 0.577077 0.8175 0.504380 Uncertain 16_84444349_A->C 16 84444349 84444349 A C snp 3267.77 1/1 99 119 1 118 0.99 exonic rs247818 ATP2C2 AU nonsynonymous SNV NM_014861 exon6 c.A493C p.M165L 0.996206 1 0.997846 0.9990 1 1 T 0.000 P -0.941 T 0.0 T 0.0 T Pathogenic 16_84472972_G->A 16 84472972 84472972 G A snp 957.77 0/1 99 77 38 39 0.51 intronic rs247905 ATP2C2 AU NM_001291454 exon10 c.30958-60G>A 0.303914 0.3472 Uncertain 16_84473004_-->TT 16 84473004 84473004 - TT indel 1902.73 0/1 99 97 52 45 0.46 intronic rs3085208 ATP2C2 AU NM_001291454 exon10 c.30958-28insTT 0.542732 0.6121 0.464951 0.4769 0.6018 Uncertain 16_84473137_G->C 16 84473137 84473137 G C snp 2442.77 1/1 99 87 0 87 1.0 intronic rs247904 ATP2C2 AU NM_001291454 exon10 c.31056+7G>C 0.862819 0.9573 0.842959 0.8496 0.9532 Uncertain 16_84473192_A->G 16 84473192 84473192 A G snp 497.77 0/1 99 47 27 20 0.43 intronic rs931077 ATP2C2 AU NM_001291454 exon10 c.31056+62A>G 0.541534 0.6141 Uncertain 16_84473195_T->A 16 84473195 84473195 T A snp 1331.77 1/1 99 43 0 43 1.0 intronic rs247903 ATP2C2 AU NM_001291454 exon10 c.31056+65T>A 0.858227 0.9583 Uncertain 16_84476022_A->G 16 84476022 84476022 A G snp 1667.77 0/1 99 156 81 75 0.48 intronic rs2288582 ATP2C2 AU NM_001291454 exon12 c.34041-93A>G 0.283147 0.5208 Uncertain 16_84476200_A->T 16 84476200 84476200 A T snp 1537.77 0/1 99 142 75 67 0.47 exonic rs247897 ATP2C2 AU nonsynonymous SNV NM_014861 exon15 c.A1396T p.M466L 0.408147 0.4226 0.389593 0.3729 0.4265 0.34 T 0.998 P -1.002 T 0.193 T 0.147 T Pathogenic 16_84476224_G->T 16 84476224 84476224 G T snp 1238.77 0/1 99 100 47 53 0.53 intronic rs2288581 ATP2C2 AU NM_001291454 exon12 c.34131+19G>T 0.282748 0.5278 0.156667 0.2114 0.5134 Uncertain 16_84476297_G->C 16 84476297 84476297 G C snp 424.77 0/1 99 16 4 12 0.75 intronic rs2288580 ATP2C2 AU NM_001291454 exon12 c.34131+92G>C 0.389976 0.5337 Uncertain 16_84476301_G->A 16 84476301 84476301 G A snp 369.77 0/1 99 15 4 11 0.73 intronic rs2288579 ATP2C2 AU NM_001291454 exon12 c.34131+96G>A 0.282548 0.5258 Uncertain 16_84476334_C->A 16 84476334 84476334 C A snp 119.78 0/1 27 5 1 4 0.8 intronic rs2288578 ATP2C2 AU NM_001291454 exon12 c.34131+129C>A 0.240016 0.501 Uncertain 16_84481995_T->C 16 84481995 84481995 T C snp 639.77 1/1 48 18 0 18 1.0 intronic rs247891 ATP2C2 AU NM_001291454 exon14 c.40064-143T>C 0.898363 0.7798 Uncertain 16_84485573_C->A 16 84485573 84485573 C A snp 2967.77 1/1 99 115 2 113 0.98 exonic rs247885 ATP2C2 AU synonymous SNV NM_014861 exon18 c.C1707A p.L569L 0.998203 1 0.998203 0.9993 1 Uncertain 16_84485749_C->T 16 84485749 84485749 C T snp 897.77 0/1 99 87 46 41 0.47 intronic rs12149888 ATP2C2 AU NM_001291454 exon15 c.43623+52C>T 0.161542 0.0962 0.228073 0.2235 0.1163 Uncertain 16_84486700_G->A 16 84486700 84486700 G A snp 502.77 0/1 99 44 22 22 0.5 intronic rs193704 ATP2C2 AU NM_001291454 exon16 c.44669-43G>A 0.555112 0.6379 0.426961 0.5720 0.6625 Uncertain 16_84486867_A->G 16 84486867 84486867 A G snp 2892.77 1/1 99 102 0 102 1.0 intronic rs2435172 ATP2C2 AU NM_001291454 exon16 c.44767+26A>G 0.998003 1 0.997518 0.9992 0.9998 Uncertain 16_84487118_G->A 16 84487118 84487118 G A snp 40.77 0/1 69 5 3 2 0.4 intronic rs11859752 ATP2C2 AU NM_001291454 exon17 c.44903+141G>A 0.270367 0.5159 Uncertain 16_84488676_-->GG 16 84488676 84488676 - GG indel 541.73 0/1 99 42 15 27 0.64 intronic rs113623854 ATP2C2 AU NM_001291454 exon18 c.46516+86insGG Uncertain 16_84493032_C->T 16 84493032 84493032 C T snp 3336.77 1/1 99 117 0 117 1.0 intronic rs3743654 ATP2C2 AU NM_001291454 exon20 c.50918+40C>T 0.558506 0.6984 0.468616 0.5167 0.6980 Uncertain 16_84493144_C->G 16 84493144 84493144 C G snp 2829.77 1/1 99 107 0 107 1.0 intronic rs410388 ATP2C2 AU NM_001286527 exon24 c.90890+33C>G 0.998403 1 0.9991 0.9990 1 T 0.0 P -0.924 T 0.0 T 0.0 T Uncertain 16_84493927_G->A 16 84493927 84493927 G A snp 492.77 1/1 39 15 0 15 1.0 intronic rs35858301 ATP2C2 AU NM_001291454 exon21 c.52185-332G>A 0.46266 0.6359 Uncertain 16_84493954_-->A 16 84493954 84493954 - A indel 1053.73 1/1 72 24 0 24 1.0 intronic rs376234583 ATP2C2 AU NM_001291454 exon21 c.52185-305insA 0.470647 0.631 0.5121 0.6667 Uncertain 16_84494020_G->T 16 84494020 84494020 G T snp 1349.77 1/1 99 52 0 52 1.0 intronic rs393515 ATP2C2 AU NM_001291454 exon21 c.52185-239G>T 0.998602 1 0.9991 1 Uncertain 16_84494275_C->T 16 84494275 84494275 C T snp 4489.77 1/1 99 163 0 163 1.0 exonic rs2241640 ATP2C2 AU synonymous SNV NM_014861 exon24 c.C2349T p.P783P 0.472244 0.6349 0.429477 0.4511 0.6440 Uncertain 16_84495761_G->C 16 84495761 84495761 G C snp 580.77 0/1 99 38 18 20 0.53 intronic rs34205686 ATP2C2 AU NM_001291454 exon23 c.53661+26G>C 0.151558 0.1042 0.243418 0.2616 0.1189 Uncertain 16_84495825_G->A 16 84495825 84495825 G A snp 77.77 0/1 99 7 4 3 0.43 intronic rs12448746 ATP2C2 AU NM_001291454 exon23 c.53661+90G>A 0.150759 0.1022 Uncertain 16_84497064_T->C 16 84497064 84497064 T C snp 262.8 1/1 21 7 0 7 1.0 intronic rs691818 ATP2C2 AU NM_001291454 exon24 c.55145-155T>C 0.939696 1 Uncertain 16_84497212_C->T 16 84497212 84497212 C T snp 2770.77 0/1 99 233 101 132 0.57 intronic rs1560247 ATP2C2 AU NM_001291454 exon24 c.55145-7C>T 0.299121 0.5516 0.151167 0.1891 0.5482 Uncertain 16_84513463_T->G 16 84513463 84513463 T G snp 428.77 1/1 33 13 0 13 1.0 UTR3 rs899250 TLDC1 AU 0.77476 0.9306 Uncertain 16_84516090_A->G 16 84516090 84516090 A G snp 896.77 1/1 66 22 0 22 1.0 intronic rs392199 TLDC1 AU NM_020947 exon3 c.2679-107A>G 0.983427 0.999 Uncertain 16_84520396_A->G 16 84520396 84520396 A G snp 4340.77 1/1 99 157 0 157 1.0 exonic rs422145 TLDC1 AU nonsynonymous SNV NM_020947 exon5 c.T799C p.C267R 0.997604 1 0.998000 0.9993 1 1 T 0.292 P -0.985 T 0.0 T 0.0 T Pathogenic 16_84520537_T->C 16 84520537 84520537 T C snp 4067.77 1/1 99 149 0 149 1.0 exonic rs431818 TLDC1 AU nonsynonymous SNV NM_020947 exon5 c.A658G p.I220V 0.983027 1 0.982462 0.9937 1 1 T 0.0 P -0.995 T 0.0 T 0.0 T Pathogenic 16_84520780_G->C 16 84520780 84520780 G C snp 312.78 1/1 24 11 0 11 1.0 intronic rs378384 TLDC1 AU NM_020947 exon4 c.7147+115G>C 0.982428 1 Uncertain 16_84528235_T->C 16 84528235 84528235 T C snp 429.77 1/1 33 11 0 11 1.0 intronic rs62050761 TLDC1 AU NM_020947 exon6 c.15770-1053T>C 0.21845 0.126 Uncertain 16_84528293_C->T 16 84528293 84528293 C T snp 1195.77 1/1 87 40 0 40 1.0 intronic rs2082037 TLDC1 AU NM_020947 exon6 c.15770-995C>T 0.216254 0.0823 Uncertain 16_84528317_G->C 16 84528317 84528317 G C snp 1892.77 1/1 99 67 0 67 1.0 intronic rs2435171 TLDC1 AU NM_020947 exon6 c.15770-971G>C 0.926118 1 Uncertain 16_84600347_T->C 16 84600347 84600347 T C snp 246.77 0/1 99 24 13 11 0.46 UTR3 rs247860 COTL1 AU 0.405551 0.2411 Uncertain 16_84623989_T->C 16 84623989 84623989 T C snp 229.77 0/1 99 19 9 10 0.53 intronic rs2288584 COTL1 AU NM_021149 exon2 c.23418+121T>C 0.155351 0.2361 Uncertain 16_84651656_A->G 16 84651656 84651656 A G snp 54.74 1/1 6 2 0 2 1.0 UTR5 rs71390483 COTL1 AU 1 1 Uncertain 16_84733551_C->G 16 84733551 84733551 C G snp 176.9 1/1 15 5 0 5 1.0 upstream rs3751761 USP10 AU 0.148363 0.2867 Uncertain 16_84766970_T->C 16 84766970 84766970 T C snp 719.77 0/1 99 60 28 32 0.53 intronic rs958309 USP10 AU NM_005153 exon2 c.33344-70T>C 0.174121 0.2698 Uncertain 16_84774120_T->C 16 84774120 84774120 T C snp 1191.77 1/1 87 40 0 40 1.0 intronic rs4510001 USP10 AU NM_005153 exon3 c.40279+145T>C 0.826078 0.9583 Uncertain 16_84778685_A->G 16 84778685 84778685 A G snp 1817.77 0/1 99 158 79 79 0.5 exonic rs1862792 USP10 AU nonsynonymous SNV NM_005153 exon4 c.A598G p.M200V 0.203075 0.1458 0.225909 0.2304 0.1797 0.33 T 0.0 P -0.885 T 0.0 T 0.0 T Pathogenic 16_84778690_C->T 16 84778690 84778690 C T snp 1556.77 0/1 99 152 82 70 0.46 exonic rs1812062 USP10 AU synonymous SNV NM_005153 exon4 c.C603T p.P201P 0.280751 0.4107 0.157245 0.2053 0.3951 Uncertain 16_84778694_T->C 16 84778694 84778694 T C snp 1583.77 0/1 99 150 81 69 0.46 exonic rs2326391 USP10 AU nonsynonymous SNV NM_005153 exon4 c.T607C p.S203P 0.280751 0.4107 0.161293 0.2054 0.3952 0.14 T 0.0 P -0.910 T 0.001 T 0.003 T Pathogenic 16_84778697_G->C 16 84778697 84778697 G C snp 1567.77 0/1 99 152 81 71 0.47 exonic rs1812061 USP10 AU nonsynonymous SNV NM_005153 exon4 c.G610C p.V204L 0.280751 0.4107 0.163327 0.2054 0.3946 0.26 T 0.000 P -0.910 T 0.043 T 0.054 T Pathogenic 16_84793285_T->A 16 84793285 84793285 T A snp 110.77 0/1 99 10 6 4 0.4 intronic rs3764332 USP10 AU NM_005153 exon6 c.59382+207T>A 0.133786 0.2192 Uncertain 16_84798003_T->C 16 84798003 84798003 T C snp 1310.77 0/1 99 83 38 45 0.54 intronic rs35893650 USP10 AU NM_005153 exon10 c.64173+134T>C 0.254593 0.2639 Uncertain 16_84872051_G->C 16 84872051 84872051 G C snp 319.77 0/1 99 28 17 11 0.39 UTR5 rs1546124 CRISPLD2 AU 0.659944 0.4415 0.696030 0.6719 0.4087 Uncertain 16_84884072_T->G 16 84884072 84884072 T G snp 934.77 0/1 99 97 57 40 0.41 intronic rs4782673 CRISPLD2 AU NM_031476 exon5 c.12072-101T>G 0.64377 0.7847 Uncertain 16_84884116_A->G 16 84884116 84884116 A G snp 1470.77 0/1 99 159 95 64 0.4 intronic rs4783090 CRISPLD2 AU NM_031476 exon5 c.12072-57A>G 0.685903 0.7857 Uncertain 16_84888295_C->T 16 84888295 84888295 C T snp 746.77 0/1 99 69 39 30 0.43 intronic rs4782674 CRISPLD2 AU NM_031476 exon6 c.16233-39C>T 0.23722 0.4732 0.180874 0.2231 0.5178 Uncertain 16_84888310_C->T 16 84888310 84888310 C T snp 918.77 0/1 99 87 50 37 0.43 intronic rs4782675 CRISPLD2 AU NM_031476 exon6 c.16233-24C>T 0.255192 0.4752 0.202877 0.2297 0.5192 Uncertain 16_84888520_AAAG->- 16 84888520 84888523 AAAG - indel 5531.73 0/1 99 192 94 98 0.51 intronic rs373912201 CRISPLD2 AU NM_031476 exon6 c.16334+85_16334+88delAAAG 0.236621 0.4762 Uncertain 16_84888541_T->C 16 84888541 84888541 T C snp 1853.77 0/1 99 153 78 75 0.49 intronic rs2646127 CRISPLD2 AU NM_031476 exon6 c.16334+106T>C 0.724241 0.7946 Uncertain 16_84888597_C->G 16 84888597 84888597 C G snp 615.77 0/1 99 50 25 25 0.5 intronic rs2646126 CRISPLD2 AU NM_031476 exon6 c.16334+162C>G 0.640974 0.7857 Uncertain 16_84902549_A->G 16 84902549 84902549 A G snp 2515.77 1/1 99 83 0 83 1.0 intronic rs796487 CRISPLD2 AU NM_031476 exon8 c.30416+32A>G 0.453474 0.6409 0.386290 0.3528 0.6705 Uncertain 16_84906098_C->G 16 84906098 84906098 C G snp 3686.77 1/1 99 135 0 135 1.0 exonic rs721005 CRISPLD2 AU nonsynonymous SNV NM_031476 exon9 c.C965G p.T322S 0.485024 0.6488 0.441606 0.4080 0.6738 0.79 T 1.0 P -0.985 T 0.46 P 0.284 P Pathogenic 16_84906820_T->C 16 84906820 84906820 T C snp 1582.77 1/1 99 56 0 56 1.0 intronic rs2934490 CRISPLD2 AU NM_031476 exon10 c.34627+92T>C 0.480232 0.6508 Uncertain 16_84906909_G->C 16 84906909 84906909 G C snp 245.8 1/1 21 7 0 7 1.0 intronic rs2934489 CRISPLD2 AU NM_031476 exon10 c.34627+181G>C 0.542332 0.6448 Uncertain 16_84907450_G->A 16 84907450 84907450 G A snp 462.77 1/1 36 13 0 13 1.0 intronic rs2968143 CRISPLD2 AU NM_031476 exon11 c.35424-75G>A 0.423922 0.4831 0.397677 Uncertain 16_84907500_TT->- 16 84907500 84907501 TT - indel 501.74 1/1 30 30 3 27 0.9 intronic rs10600678 CRISPLD2 AU NM_031476 exon11 c.35424-25_35424-24delTT 0.634385 0.7887 0.2939 0.4099 Uncertain 16_84907670_G->C 16 84907670 84907670 G C snp 4227.77 1/1 99 166 0 166 1.0 intronic rs2934486 CRISPLD2 AU NM_031476 exon11 c.35468+101G>C 0.741613 0.874 Uncertain 16_84910912_G->C 16 84910912 84910912 G C snp 135.03 1/1 12 4 0 4 1.0 intronic rs2641662 CRISPLD2 AU NM_031476 exon12 c.38942-131G>C 0.878794 0.9653 Uncertain 16_84911195_G->C 16 84911195 84911195 G C snp 1842.77 1/1 99 68 0 68 1.0 intronic rs2244486 CRISPLD2 AU NM_031476 exon12 c.39015+79G>C 0.537939 0.6438 Uncertain 16_84911219_G->A 16 84911219 84911219 G A snp 1245.77 1/1 93 41 0 41 1.0 intronic rs2244487 CRISPLD2 AU NM_031476 exon12 c.39015+103G>A 0.476438 0.6409 Uncertain 16_84922859_C->T 16 84922859 84922859 C T snp 3122.77 1/1 99 115 0 115 1.0 exonic rs767050 CRISPLD2 AU synonymous SNV NM_031476 exon14 c.C1329T p.A443A 0.682708 0.8591 0.585013 0.5872 0.8549 Uncertain 16_84940172_C->A 16 84940172 84940172 C A snp 204.77 0/1 99 20 11 9 0.45 intronic rs3803630 CRISPLD2 AU NM_031476 exon15 c.68092-21C>A 0.090655 0.2054 0.039551 0.0610 0.1993 Uncertain 16_84940479_T->C 16 84940479 84940479 T C snp 1071.77 1/1 78 32 0 32 1.0 UTR3 rs1874008 CRISPLD2 AU 0.820288 0.7748 Uncertain 16_84940525_G->C 16 84940525 84940525 G C snp 83.77 0/1 67 5 2 3 0.6 UTR3 rs3803632 CRISPLD2 AU 0.0926518 0.2143 Uncertain 16_85009970_A->G 16 85009970 85009970 A G snp 2044.77 1/1 99 76 0 76 1.0 exonic rs7195377 ZDHHC7 AU synonymous SNV NM_017740 exon8 c.T906C p.G302G 0.701278 0.63 0.643484 0.5966 0.6125 Uncertain 16_85011480_T->C 16 85011480 85011480 T C snp 364.78 1/1 27 15 0 15 1.0 intronic rs8045409 ZDHHC7 AU NM_017740 exon3 c.1581-49T>C 0.699281 0.622 0.639714 0.5900 0.5958 Uncertain 16_85011622_G->A 16 85011622 85011622 G A snp 796.77 1/1 57 31 0 31 1.0 intronic rs8044638 ZDHHC7 AU NM_017740 exon3 c.1663+11G>A 0.677316 0.62 0.614171 0.5833 0.5939 Uncertain 16_85023855_C->T 16 85023855 85023855 C T snp 2198.77 1/1 99 76 0 76 1.0 intronic rs931713 ZDHHC7 AU NM_017740 exon6 c.13961-54C>T 0.694289 0.625 Uncertain 16_85105554_A->C 16 85105554 85105554 A C snp 612.77 0/1 99 61 33 28 0.46 intronic rs8058770 KIAA0513 AU NM_001286566 exon3 c.4811+66A>C 0.301518 0.2212 Uncertain 16_85105643_C->T 16 85105643 85105643 C T snp 510.77 1/1 39 15 0 15 1.0 intronic rs12597135 KIAA0513 AU NM_001286566 exon3 c.4811+155C>T 0.381989 0.373 Uncertain 16_85106356_C->T 16 85106356 85106356 C T snp 140.77 0/1 99 16 11 5 0.31 intronic rs146247975 KIAA0513 AU NM_001286566 exon4 c.5853-174C>T 0.000599042 0.003 Uncertain 16_85109328_A->G 16 85109328 85109328 A G snp 412.77 0/1 99 19 5 14 0.74 intronic rs16975200 KIAA0513 AU NM_001286566 exon5 c.8772-121A>G 0.347843 0.3204 Uncertain 16_85110903_C->G 16 85110903 85110903 C G snp 148.77 0/1 94 8 3 5 0.63 intronic rs12597000 KIAA0513 AU NM_001286566 exon6 c.10353-127C>G 0.345447 0.3214 Uncertain 16_85111943_A->G 16 85111943 85111943 A G snp 2961.77 0/1 99 219 97 122 0.56 intronic rs12932076 KIAA0513 AU NM_001286566 exon7 c.11343-77A>G 0.0563099 0.0575 0.063732 Uncertain 16_85111987_C->T 16 85111987 85111987 C T snp 2252.77 0/1 99 225 125 100 0.44 intronic rs2291968 KIAA0513 AU NM_001286566 exon7 c.11343-33C>T 0.104233 0.2391 0.046014 0.0701 0.2310 Uncertain 16_85112002_T->G 16 85112002 85112002 T G snp 5723.77 1/1 99 216 0 216 1.0 intronic rs2291967 KIAA0513 AU NM_001286566 exon7 c.11343-18T>G 0.602436 0.4633 0.584103 0.5256 0.4644 Uncertain 16_85112097_C->G 16 85112097 85112097 C G snp 1238.77 0/1 99 78 36 42 0.54 intronic rs12932461 KIAA0513 AU NM_001286566 exon7 c.11384+36C>G 0.288538 0.1399 0.372787 0.3632 0.1620 Uncertain 16_85120510_A->G 16 85120510 85120510 A G snp 248.77 0/1 99 15 7 8 0.53 intronic rs2291963 KIAA0513 AU NM_001286566 exon11 c.20000-167A>G 0.365815 0.2867 Uncertain 16_85120609_A->G 16 85120609 85120609 A G snp 3456.77 1/1 99 115 0 115 1.0 intronic rs2291962 KIAA0513 AU NM_001286566 exon11 c.20000-68A>G 0.753994 0.6736 Uncertain 16_85120648_C->T 16 85120648 85120648 C T snp 1911.77 0/1 99 173 94 79 0.46 intronic rs78833300 KIAA0513 AU NM_001286566 exon11 c.20000-29C>T 0.0345447 0.0556 0.014004 0.0223 0.0722 Uncertain 16_85120815_G->C 16 85120815 85120815 G C snp 1070.77 0/1 99 75 34 41 0.55 intronic rs79036243 KIAA0513 AU NM_001286566 exon11 c.20095+43G>C 0.0333466 0.0556 0.013081 0.0221 0.0726 Uncertain 16_85121733_C->A 16 85121733 85121733 C A snp 154.77 0/1 97 8 3 5 0.63 intronic rs3751753 KIAA0513 AU NM_001286566 exon12 c.21204-148C>A 0.301318 0.2063 Uncertain 16_85133872_G->C 16 85133872 85133872 G C snp 1176.77 0/1 99 108 56 52 0.48 intronic rs3764278 FAM92B AU NM_198491 exon2 c.1056+26G>C 0.383786 0.2887 0.318406 0.3166 0.3718 Uncertain 16_85682471_C->T 16 85682471 85682471 C T snp 433.77 1/1 33 12 0 12 1.0 intronic rs67659612 GSE1 AU NM_014615 exon3 c.35360+114C>T 0.373203 0.7083 Uncertain 16_85691294_A->G 16 85691294 85691294 A G snp 1152.77 1/1 84 40 0 40 1.0 intronic rs7404958 GSE1 AU NM_014615 exon8 c.44213+84A>G 0.935104 0.9097 Uncertain 16_85696412_C->T 16 85696412 85696412 C T snp 155.77 0/1 99 21 15 6 0.29 intronic rs55848771 GSE1 AU NM_014615 exon10 c.49589-174C>T 0.290335 0.4335 Uncertain 16_85699527_A->G 16 85699527 85699527 A G snp 1583.77 1/1 99 52 0 52 1.0 intronic rs7195186 GSE1 AU NM_014615 exon13 c.52584-54A>G 0.507987 0.6944 Uncertain 16_85704584_A->G 16 85704584 85704584 A G snp 561.77 0/1 99 54 28 26 0.48 intronic rs2303202 GSE1 AU NM_014615 exon15 c.57603-16A>G 0.379992 0.5069 0.348415 0.4019 0.5372 Uncertain 16_85705880_C->T 16 85705880 85705880 C T snp 330.77 0/1 99 21 10 11 0.52 intronic rs59013010 GSE1 AU NM_014615 exon16 c.59013-130C>T 0.0920527 0.1696 0.0740 0.2941 0.000 P -1.031 T Uncertain 16_85705901_G->A 16 85705901 85705901 G A snp 403.77 0/1 99 33 17 16 0.48 intronic rs61212986 GSE1 AU NM_014615 exon16 c.59013-109G>A 0.0882588 0.1736 0.1023 0.3224 0.0 P -1.045 T Uncertain 16_85706047_A->C 16 85706047 85706047 A C snp 2909.77 1/1 99 110 0 110 1.0 exonic rs9940601 GSE1 AU synonymous SNV NM_001134473 exon15 c.A3244C p.R1082R 0.681909 0.873 0.621884 0.6568 0.8839 1.000 P -0.930 T Likely benign 16_85711769_G->A 16 85711769 85711769 G A snp 248.84 0/1 18 10 1 9 0.9 UTR3 rs3751716 GINS2 AU 0.0804712 0.1935 0.020930 0.0359 0.1805 Uncertain 16_85711860_C->T 16 85711860 85711860 C T snp 378.77 0/1 99 41 23 18 0.44 exonic rs1053328 GINS2 AU synonymous SNV NM_016095 exon5 c.G516A p.T172T 0.3748 0.494 0.341490 0.3780 0.5240 Uncertain 16_85715120_G->T 16 85715120 85715120 G T snp 420.77 0/1 99 33 16 17 0.52 intronic rs73253274 GINS2 AU NM_016095 exon3 c.3370-67G>T 0.0936502 0.1786 Uncertain 16_85720945_C->T 16 85720945 85720945 C T snp 500.77 0/1 99 44 23 21 0.48 intronic rs3815796 GINS2 AU NM_016095 exon4 c.9248-120C>T 0.405152 0.4683 Uncertain 16_85721297_T->A 16 85721297 85721297 T A snp 651.77 1/1 48 20 0 20 1.0 intronic rs9930592 GINS2 AU NM_016095 exon4 c.9363+117T>A 0.981629 0.999 Uncertain 16_85722560_C->G 16 85722560 85722560 C G snp 1478.77 0/1 99 92 32 60 0.65 UTR5 rs58171120 GINS2 AU 0.329872 0.3274 Uncertain 16_85722696_C->G 16 85722696 85722696 C G snp 42.77 0/1 31 3 1 2 0.67 upstream rs57616317 GINS2 AU 0.170727 0.1875 Uncertain 16_85743732_C->G 16 85743732 85743732 C G snp 612.77 1/1 45 19 0 19 1.0 intronic rs2305357 C16orf74 AU NM_206967 exon2 c.2156-37C>G 0.754593 0.8661 0.713029 0.7456 0.8679 Uncertain 16_85768606_A->G 16 85768606 85768606 A G snp 141.03 1/1 12 4 0 4 1.0 intronic rs409342 C16orf74 AU NM_206967 exon3 c.27182-189A>G 0.967652 1 Uncertain 16_85775064_A->G 16 85775064 85775064 A G snp 303.78 1/1 24 10 0 10 1.0 intronic rs388855 C16orf74 AU NM_206967 exon3 c.27228+6223A>G 0.9998 1 Uncertain 16_85775175_G->A 16 85775175 85775175 G A snp 1779.77 1/1 99 63 0 63 1.0 intronic rs446444 C16orf74 AU NM_206967 exon3 c.27228+6334G>A 0.958666 1 0.955979 Uncertain 16_85813963_C->T 16 85813963 85813963 C T snp 3957.77 1/1 99 143 0 143 1.0 intronic rs301165 EMC8 AU NM_006067 exon2 c.671-21C>T 0.954673 1 0.942367 0.9845 0.9999 Uncertain 16_85814899_-->AGTC 16 85814899 85814899 - AGTC indel 11196.7 1/1 99 162 0 162 1.0 intronic rs3081701 EMC8 AU NM_001142288 exon2 c.1416+13insAGTC 1 1 0.999840 0.9999 1 Uncertain 16_85814995_A->G 16 85814995 85814995 A G snp 2480.77 1/1 99 77 0 77 1.0 intronic rs301166 EMC8 AU NM_001142288 exon2 c.1416+109A>G 0.996805 1 Uncertain 16_85815074_C->T 16 85815074 85815074 C T snp 143.03 1/1 12 5 0 5 1.0 intronic rs301167 EMC8 AU NM_001142288 exon2 c.1416+188C>T 0.998003 1 Uncertain 16_85838166_G->A 16 85838166 85838166 G A snp 190.9 1/1 15 9 0 9 1.0 intronic rs2599089 COX4I1 AU NM_001861 exon3 c.3731-376G>A 0.977037 1 1 . Uncertain 16_85838195_A->C 16 85838195 85838195 A C snp 269.8 1/1 21 12 0 12 1.0 intronic rs2733964 COX4I1 AU NM_001861 exon3 c.3731-347A>C 0.976837 1 1 . Uncertain 16_85838503_T->C 16 85838503 85838503 T C snp 818.77 1/1 60 27 0 27 1.0 intronic rs2599090 COX4I1 AU NM_001861 exon3 c.3731-39T>C 0.977037 1 0.972376 0.9918 1 Uncertain 16_85838532_A->G 16 85838532 85838532 A G snp 1258.77 1/1 90 43 0 43 1.0 intronic rs2733965 COX4I1 AU NM_001861 exon3 c.3731-10A>G 0.977037 1 0.972376 0.9920 1 Uncertain 16_85838653_T->C 16 85838653 85838653 T C snp 2357.77 1/1 99 89 0 89 1.0 exonic rs2599091 COX4I1 AU synonymous SNV NM_001861 exon3 c.T184C p.L62L 0.977037 1 0.972376 0.9921 1 Uncertain 16_85838804_-->A 16 85838804 85838804 - A indel 1632.73 1/1 99 39 0 39 1.0 intronic rs11419687 COX4I1 AU NM_001861 exon3 c.3899+94insA 0.977037 1 Uncertain 16_85839140_T->C 16 85839140 85839140 T C snp 1600.77 1/1 99 43 0 43 1.0 intronic rs2599092 COX4I1 AU NM_001861 exon4 c.4527-198T>C 0.977037 1 Uncertain 16_85839186_C->T 16 85839186 85839186 C T snp 2588.77 1/1 99 88 0 88 1.0 intronic rs2733966 COX4I1 AU NM_001861 exon4 c.4527-152C>T 0.977037 1 Uncertain 16_85839543_C->G 16 85839543 85839543 C G snp 1816.77 1/1 99 48 0 48 1.0 intronic rs2641797 COX4I1 AU NM_001861 exon4 c.4659+73C>G 0.977037 1 Uncertain 16_85840036_A->- 16 85840036 85840036 A - indel 4999.73 1/1 99 111 0 111 1.0 intronic rs5818557 COX4I1 AU NM_001861 exon5 c.5532-307delA 0.977037 1 0.9981 1 Uncertain 16_85945076_T->C 16 85945076 85945076 T C snp 1378.77 0/1 99 102 48 54 0.53 intronic rs2292980 IRF8 AR,AD NM_002163 exon4 c.8554-99T>C 0.389776 0.4296 Uncertain 16_86369306_C->A 16 86369306 86369306 C A snp 266.77 0/1 99 20 10 10 0.5 ncRNA_intronic rs3828516 LINC00917 AU 0.344449 0.5565 Uncertain 16_86369360_G->A 16 86369360 86369360 G A snp 552.77 0/1 99 54 30 24 0.44 ncRNA_intronic rs3762873 LINC00917 AU 0.157149 0.4514 0.1155 0.4009 Uncertain 16_86565826_C->G 16 86565826 86565826 C G snp 2013.77 0/1 99 154 71 83 0.54 exonic rs3751803 MTHFSD AU nonsynonymous SNV NM_001159377 exon8 c.G943C p.G315R 0.892772 0.8552 0.903559 0.9021 0.8680 0.75 T 0.0 P -1.033 T 0.001 T 0.004 T Pathogenic 16_86565882_G->C 16 86565882 86565882 G C snp 1953.77 0/1 99 176 90 86 0.49 exonic rs3751802 MTHFSD AU nonsynonymous SNV NM_001159377 exon8 c.C887G p.S296C 0.265974 0.3393 0.158455 0.2242 0.3743 0.07 T 0.0 P -0.934 T 0.002 T 0.002 T Pathogenic 16_86575460_C->G 16 86575460 86575460 C G snp 2482.77 0/1 99 193 96 97 0.5 intronic rs3213418 MTHFSD AU NM_001159380 exon2 c.9812+32C>G 0.83147 0.8383 0.835558 0.8817 0.8347 Uncertain 16_86585905_C->A 16 86585905 86585905 C A snp 1252.77 0/1 99 107 61 46 0.43 intronic rs8046613 MTHFSD AU NM_001159379 exon6 c.20282+7C>A 0.884185 0.8274 0.879325 0.9030 0.8440 Uncertain 16_86588655_G->C 16 86588655 86588655 G C snp 875.77 0/1 99 105 68 37 0.35 intronic rs2354022 MTHFSD AU NM_001159379 exon8 c.23158-119G>C 0.883586 0.8304 Uncertain 16_86588993_T->C 16 86588993 86588993 T C snp 2136.77 0/1 99 214 128 86 0.4 ncRNA_exonic rs3751796 FLJ30679 AU 0.225439 0.3254 0.2568 0.3538 Uncertain 16_86602643_C->T 16 86602643 86602643 C T snp 71.77 0/1 90 6 3 3 0.5 downstream rs3751794 FOXC2 AD 0.0702875 0.1935 Uncertain 16_87349333_A->G 16 87349333 87349333 A G snp 1515.77 1/1 99 47 0 47 1.0 intronic rs6540037 C16orf95 AU NM_001195124 exon6 c.12715-44A>G 0.849241 0.999 0.9504 1 Uncertain 16_87349386_G->A 16 87349386 87349386 G A snp 1199.77 0/1 99 91 38 53 0.58 exonic rs185262470 C16orf95 AU nonsynonymous SNV NM_001195124 exon2 c.C196T p.R66C 0.000399361 0.002 0.05 T -1.004 T 0.923 T 0.237 D Pathogenic 16_87349489_A->G 16 87349489 87349489 A G snp 2561.77 1/1 99 94 0 94 1.0 intronic rs7193801 C16orf95 AU NM_001195124 exon6 c.12767+60A>G 0.851238 0.999 Uncertain 16_87349529_T->C 16 87349529 87349529 T C snp 1898.77 1/1 99 65 0 65 1.0 intronic rs7198660 C16orf95 AU NM_001195124 exon6 c.12767+100T>C 0.944489 0.999 Uncertain 16_87350773_C->A 16 87350773 87350773 C A snp 3834.77 1/1 99 146 0 146 1.0 exonic rs3748393 C16orf95 AU nonsynonymous SNV NM_001195124 exon1 c.G76T p.A26S 0.419529 0.6339 0.4843 0.7296 0 D 0.999 P -0.945 T 0.418 T 0.051 T Pathogenic 16_87350997_A->G 16 87350997 87350997 A G snp 705.77 1/1 54 19 0 19 1.0 UTR5 rs4843592 C16orf95 AU 0.944089 0.999 Uncertain 16_87376605_C->T 16 87376605 87376605 C T snp 1481.77 1/1 67 63 2 61 0.97 intronic rs2303763 FBXO31 AR NM_001282683 exon5 c.11664+48C>T 0.64976 0.8829 0.498383 0.6592 0.8876 Uncertain 16_87376623_C->G 16 87376623 87376623 C G snp 1439.77 1/1 99 56 0 56 1.0 intronic rs4843237 FBXO31 AR NM_001282683 exon5 c.11664+66C>G 0.946685 1 Uncertain 16_87377455_G->C 16 87377455 87377455 G C snp 1566.77 1/1 99 49 0 49 1.0 intronic rs2303764 FBXO31 AR NM_001282683 exon6 c.12478+84G>C 0.658746 0.8839 Uncertain 16_87381066_T->C 16 87381066 87381066 T C snp 37.77 0/1 66 4 2 2 0.5 intronic rs8059409 FBXO31 AR NM_001282683 exon7 c.15963+210T>C 0.58746 0.7153 Uncertain 16_87426028_T->C 16 87426028 87426028 T C snp 1166.77 1/1 84 45 0 45 1.0 UTR5 rs8043569 MAP1LC3B AU 0.986422 1 0.988539 0.9971 1 Uncertain 16_87426256_A->G 16 87426256 87426256 A G snp 101.28 1/1 9 4 0 4 1.0 intronic rs72628299 MAP1LC3B AU NM_022818 exon1 c.40+183A>G 0.641374 0.996 0 . Uncertain 16_87436382_G->A 16 87436382 87436382 G A snp 291.78 1/1 24 8 0 8 1.0 intronic rs8044820 MAP1LC3B AU NM_022818 exon4 c.10495-146G>A 0.875599 0.7946 Uncertain 16_87436720_G->T 16 87436720 87436720 G T snp 4413.77 1/1 99 164 0 164 1.0 UTR3 rs1054521 MAP1LC3B AU 0.8127 1 0.764430 0.9075 0.9999 Uncertain 16_87436764_A->G 16 87436764 87436764 A G snp 3026.77 1/1 99 101 0 101 1.0 UTR3 rs1054528 MAP1LC3B AU Uncertain 16_87446368_C->T 16 87446368 87446368 C T snp 7550.77 1/1 99 250 0 250 1.0 exonic rs2241615 ZCCHC14 AU synonymous SNV NM_015144 exon12 c.G1548A p.P516P 0.194289 0.4256 0.114420 0.1515 0.4203 Uncertain 16_87452546_C->A 16 87452546 87452546 C A snp 989.77 1/1 72 37 0 37 1.0 intronic rs386462204 ZCCHC14 AU NM_015144 exon7 c.8622+39C>A 0.853435 1 0.854105 0.9462 1 Uncertain 16_87493577_C->A 16 87493577 87493577 C A snp 783.77 0/1 99 39 12 27 0.69 intronic rs147238446 ZCCHC14 AU NM_015144 exon12 c.49728-36C>A 0.00259585 0.0129 0.0015 0.0177 Uncertain 16_87637893_-->CTG 16 87637893 87637893 - CTG indel 1908.73 0/1 99 104 58 46 0.44 intronic rs543846456 JPH3 AD NM_001271604 exon2 c.1093+48insCTG 0.1195 0.1634 Uncertain 16_87677791_A->C 16 87677791 87677791 A C snp 1703.77 1/1 99 52 0 52 1.0 intronic rs918367 JPH3 AD NM_020655 exon2 c.41111-72A>C 0.653355 0.7133 Uncertain 16_87678144_T->C 16 87678144 87678144 T C snp 7284.77 1/1 99 249 0 249 1.0 exonic rs918368 JPH3 AD synonymous SNV NM_020655 exon2 c.T663C p.S221S 0.651757 0.7232 0.572253 0.5873 0.7517 Uncertain 16_87678165_G->A 16 87678165 87678165 G A snp 2620.77 0/1 99 250 153 97 0.39 exonic rs3751725 JPH3 AD synonymous SNV NM_020655 exon2 c.G684A p.S228S 0.185903 0.3204 0.176362 0.2208 0.3570 Uncertain 16_87723838_T->C 16 87723838 87723838 T C snp 2881.77 0/1 99 243 127 116 0.48 exonic rs34767155 JPH3 AD synonymous SNV NM_020655 exon4 c.T1872C p.H624H 0.442093 0.2659 0.404209 0.4383 0.325 Uncertain 16_87729334_-->A 16 87729334 87729334 - A indel 4638.73 0/1 99 225 106 119 0.53 intronic rs34111279 JPH3 AD NM_020655 exon5 c.93433-851insA 0.5157 0.4254 Uncertain 16_87729699_C->T 16 87729699 87729699 C T snp 721.77 0/1 99 47 18 29 0.62 intronic rs74589749 JPH3 AD NM_020655 exon5 c.93433-486C>T 0.155152 0.1121 0.1607 0.1544 0 D 0.0 P -0.995 T Uncertain 16_87729743_T->C 16 87729743 87729743 T C snp 289.77 0/1 99 17 6 11 0.65 intronic rs55681758 JPH3 AD NM_020655 exon5 c.93433-442T>C 0.226637 0.1379 0.1777 0.1618 0 D 0.0 P -0.937 T Uncertain 16_87734747_C->G 16 87734747 87734747 C G snp 64.77 0/1 93 7 4 3 0.43 intergenic rs35750555 JPH3 AD 0.360423 0.2341 Uncertain 16_87735527_G->A 16 87735527 87735527 G A snp 1537.77 0/1 99 124 58 66 0.53 intergenic rs7199037 JPH3 AD 0.178315 0.1319 0.2038 0.1812 Uncertain 16_87741662_C->A 16 87741662 87741662 C A snp 1039.77 0/1 99 107 58 49 0.46 UTR3 rs2290019 KLHDC4 AU 0.147165 0.12 0.2462 0.1422 0.31 T 0.0 P -0.981 T 0.0 T 0.0 T Uncertain 16_87742129_G->A 16 87742129 87742129 G A snp 761.77 0/1 99 57 27 30 0.53 intronic rs2290017 KLHDC4 AU NM_017566 exon2 c.116+57G>A 0.307308 0.1696 Uncertain 16_87743330_C->T 16 87743330 87743330 C T snp 1822.77 0/1 99 185 105 80 0.43 intronic rs3829507 KLHDC4 AU NM_017566 exon3 c.1317+57C>T 0.120208 0.2976 Uncertain 16_87748198_G->C 16 87748198 87748198 G C snp 1188.77 0/1 99 105 51 54 0.51 intronic rs2081981 KLHDC4 AU NM_017566 exon5 c.6223+19G>C 0.576078 0.4147 0.651739 0.6354 0.4000 Uncertain 16_87760337_A->C 16 87760337 87760337 A C snp 391.77 1/1 30 10 0 10 1.0 intronic rs67926154 KLHDC4 AU NM_017566 exon6 c.18414-33A>C 1 1 0.9983 0.9999 Uncertain 16_87764267_A->T 16 87764267 87764267 A T snp 2308.77 0/1 99 213 110 103 0.48 intronic rs9934565 KLHDC4 AU NM_017566 exon7 c.22294+17A>T 0.509585 0.4573 0.496537 0.4633 0.4272 Uncertain 16_87782258_G->A 16 87782258 87782258 G A snp 1405.77 0/1 99 116 58 58 0.5 intronic rs16943239 KLHDC4 AU NM_017566 exon8 c.40322-20G>A 0.250799 0.2044 0.205371 0.2119 0.2152 Uncertain 16_87788756_A->G 16 87788756 87788756 A G snp 517.77 1/1 39 15 0 15 1.0 intronic rs2303770 KLHDC4 AU NM_017566 exon9 c.46843-43A>G 0.772165 0.7688 0.679594 0.6774 0.7841 Uncertain 16_87788864_G->A 16 87788864 87788864 G A snp 913.77 0/1 99 75 40 35 0.47 exonic rs2303771 KLHDC4 AU nonsynonymous SNV NM_001184854 exon2 c.C134T p.T45I 0.407149 0.3403 0.360880 0.3918 0.3956 1 T 0.000 P -0.944 T 0.002 T 0.001 T Pathogenic 16_87867872_G->A 16 87867872 87867872 G A snp 38.77 0/1 31 3 1 2 0.67 intronic rs747578 SLC7A5 AU NM_003486 exon2 c.1444-147G>A 0.298722 0.5714 Uncertain 16_87871714_T->G 16 87871714 87871714 T G snp 905.77 1/1 66 29 0 29 1.0 intronic rs2287121 SLC7A5 AU NM_003486 exon4 c.4972+167T>G 0.771166 0.8581 Uncertain 16_87873247_A->C 16 87873247 87873247 A C snp 394.77 1/1 30 13 0 13 1.0 intronic rs750950 SLC7A5 AU NM_003486 exon6 c.6732-60A>C 0.474441 0.7966 Uncertain 16_87873471_G->A 16 87873471 87873471 G A snp 986.77 0/1 99 86 44 42 0.49 intronic rs33967518 SLC7A5 AU NM_003486 exon6 c.6856+40G>A 0.0988419 0.1329 0.060249 0.0658 0.1179 Uncertain 16_87874140_G->A 16 87874140 87874140 G A snp 1225.77 0/1 99 111 56 55 0.5 intronic rs11865049 SLC7A5 AU NM_003486 exon7 c.7504+61G>A 0.0982428 0.1329 0.062637 Uncertain 16_87921607_C->T 16 87921607 87921607 C T snp 37.77 0/1 66 6 4 2 0.33 downstream rs61607056 CA5A AR 0.334665 0.1597 Uncertain 16_87921654_G->A 16 87921654 87921654 G A snp 256.77 0/1 99 28 16 12 0.43 UTR3 rs58800453 CA5A AR 0.169928 0.1567 Uncertain 16_87921846_T->A 16 87921846 87921846 T A snp 686.77 0/1 99 86 52 34 0.4 exonic rs72816311 CA5A AR synonymous SNV NM_001739 exon7 c.A807T p.A269A 0.172524 0.1567 0.184518 0.1871 0.1435 Uncertain 16_87921935_T->C 16 87921935 87921935 T C snp 143.77 0/1 99 17 11 6 0.35 intronic rs60779524 CA5A AR NM_001739 exon1 c.144+57T>C 0.172524 0.1567 Uncertain 16_87935958_-->A 16 87935958 87935958 - A indel 580.73 0/1 99 61 28 33 0.54 intronic rs397717175 CA5A AR NM_001739 exon4 c.14296-72insA 0.214856 0.1657 Uncertain 16_87938398_G->A 16 87938398 87938398 G A snp 1254.77 0/1 99 123 69 54 0.44 exonic rs7186698 CA5A AR synonymous SNV NM_001739 exon3 c.C453T p.P151P 0.167133 0.1677 0.167051 0.1870 0.1691 Uncertain 16_88012150_T->G 16 88012150 88012150 T G snp 82.77 0/1 99 9 5 4 0.44 intronic rs8052854 BANP AU NM_001173542 exon3 c.5920-2491T>G 0.605431 0.5437 0.5127 0.5378 Uncertain 16_88014554_G->A 16 88014554 88014554 G A snp 364.77 0/1 99 27 14 13 0.48 intronic rs8052770 BANP AU NM_001173542 exon3 c.5920-87G>A 0.386981 0.4821 Uncertain 16_88017809_C->T 16 88017809 88017809 C T snp 1277.77 0/1 99 124 63 61 0.49 exonic rs3815820 BANP AU synonymous SNV NM_001173539 exon4 c.C306T p.V102V 0.58726 0.5218 0.5965 0.5432 Uncertain 16_88052161_C->A 16 88052161 88052161 C A snp 682.77 0/1 99 61 34 27 0.44 exonic rs7499814 BANP AU synonymous SNV NM_001173540 exon6 c.C684A p.L228L 0.580471 0.5159 0.673260 0.7242 0.5154 Uncertain 16_88061150_C->T 16 88061150 88061150 C T snp 820.77 0/1 99 75 38 37 0.49 exonic rs74740586 BANP AU synonymous SNV NM_001173540 exon7 c.C858T p.I286I 0.3748 0.5476 0.275700 0.3138 0.5803 Uncertain 16_88066655_A->G 16 88066655 88066655 A G snp 1029.77 1/1 75 36 0 36 1.0 intronic rs11641367 BANP AU NM_001173542 exon9 c.57993-59A>G 0.652556 0.8651 Uncertain 16_88066659_C->A 16 88066659 88066659 C A snp 1192.77 1/1 87 41 0 41 1.0 intronic rs11646301 BANP AU NM_001173542 exon9 c.57993-55C>A 0.652356 0.8651 Uncertain 16_88105053_T->A 16 88105053 88105053 T A snp 1607.77 0/1 99 158 87 71 0.45 intronic rs11117358 BANP AU NM_001173542 exon12 c.96953-621T>A 0.224441 0.245 0.2742 0.2879 0 D 0.0 P -1.032 T Uncertain 16_88123327_A->C 16 88123327 88123327 A C snp 174.9 1/1 15 5 0 5 1.0 intergenic rs6540168 BANP AU 0.959265 1 Uncertain 16_88123598_C->G 16 88123598 88123598 C G snp 2376.77 1/1 99 83 0 83 1.0 intergenic rs8063486 BANP AU 0.988219 1 0.9989 1 0 D 0.000 P -1.036 T Uncertain 16_88123697_C->A 16 88123697 88123697 C A snp 2805.77 1/1 99 97 0 97 1.0 intergenic rs8063654 BANP AU 0.988419 1 0.9989 1 0 D 0.0 P -1.018 T Uncertain 16_88124525_A->G 16 88124525 88124525 A G snp 52.77 0/1 33 5 1 4 0.8 intergenic rs28650772 BANP AU 0.667931 0.5407 0.8165 0.4844 Uncertain 16_88134285_A->G 16 88134285 88134285 A G snp 1350.77 1/1 99 52 0 52 1.0 ncRNA_intronic rs11860533 LOC400553 AU 0.976438 1 0.9962 1 Uncertain 16_88494747_C->T 16 88494747 88494747 C T snp 2501.77 0/1 99 199 88 111 0.56 exonic rs117501524 ZNF469 AR nonsynonymous SNV NM_001127464 exon1 c.C869T p.A290V 0.0103834 0.0496 0.0035 0.0823 0.05 T 1 N -0.928 T 0.016 T 0.001 T Pathogenic 16_88494947_T->C 16 88494947 88494947 T C snp 6967.77 1/1 99 250 1 249 1.0 exonic rs11648572 ZNF469 AR nonsynonymous SNV NM_001127464 exon1 c.T1069C p.S357P 0.989018 1 0.9827 1 0.52 T 0.0 P -1.054 T 0.0 T 0.0 T Pathogenic 16_88494976_A->C 16 88494976 88494976 A C snp 7290.77 1/1 99 250 0 250 1.0 exonic rs11640794 ZNF469 AR nonsynonymous SNV NM_001127464 exon1 c.A1098C p.R366S 0.855032 0.9147 0.9341 0.9257 1 T 0.000 P -0.994 T 0.003 T 0.0 T Pathogenic 16_88495407_G->C 16 88495407 88495407 G C snp 4398.77 1/1 99 153 0 153 1.0 exonic rs7199961 ZNF469 AR nonsynonymous SNV NM_001127464 exon1 c.G1529C p.G510A 0.991613 0.996 0.9996 1 0.66 T 0.0 P -1.033 T 0.0 T 0.0 T Pathogenic 16_88495654_A->G 16 88495654 88495654 A G snp 6946.77 1/1 99 240 0 240 1.0 exonic rs12927001 ZNF469 AR synonymous SNV NM_001127464 exon1 c.A1776G p.P592P 0.8748 0.9157 0.9444 0.9420 Uncertain 16_88496008_T->C 16 88496008 88496008 T C snp 2089.77 0/1 99 166 76 90 0.54 exonic rs12918876 ZNF469 AR synonymous SNV NM_001127464 exon1 c.T2130C p.P710P 0.604433 0.6052 0.7420 0.6425 Uncertain 16_88497031_T->C 16 88497031 88497031 T C snp 2619.77 1/1 99 101 0 101 1.0 exonic rs9924504 ZNF469 AR synonymous SNV NM_001127464 exon1 c.T3153C p.I1051I 1 1 1 1 Uncertain 16_88497400_G->A 16 88497400 88497400 G A snp 2317.77 1/1 99 84 0 84 1.0 exonic rs9938800 ZNF469 AR synonymous SNV NM_001127464 exon2 c.G3438A p.P1146P 0.902556 1 0.9603 1 Uncertain 16_88497446_A->G 16 88497446 88497446 A G snp 4185.77 1/1 99 144 1 143 0.99 exonic rs7197071 ZNF469 AR nonsynonymous SNV NM_001127464 exon2 c.A3484G p.K1162E 0.81889 0.9444 0.813995 0.9022 0.9679 1 T 0.0 P -0.974 T 0.023 T 0.012 T Pathogenic 16_88498221_C->T 16 88498221 88498221 C T snp 8350.77 1/1 99 250 0 250 1.0 exonic rs4782300 ZNF469 AR nonsynonymous SNV NM_001127464 exon2 c.C4259T p.P1420L 0.844249 0.8601 0.877247 0.8748 0.8795 1 T 0.108 P -1.020 T 0.0 T 0.0 T Pathogenic 16_88498297_T->G 16 88498297 88498297 T G snp 8330.77 1/1 99 250 1 249 1.0 exonic rs12445417 ZNF469 AR synonymous SNV NM_001127464 exon2 c.T4335G p.S1445S 0.846446 0.9514 0.839685 0.9278 0.9676 Uncertain 16_88499539_C->G 16 88499539 88499539 C G snp 5242.77 1/1 99 185 0 185 1.0 exonic rs9931465 ZNF469 AR synonymous SNV NM_001127464 exon2 c.C5577G p.T1859T 0.779553 0.8591 0.819658 0.8648 0.8813 Uncertain 16_88501435_A->C 16 88501435 88501435 A C snp 1264.77 0/1 99 123 70 53 0.43 exonic ZNF469 AR synonymous SNV NM_001127464 exon2 c.A7473C p.L2491L Uncertain 16_88502482_C->T 16 88502482 88502482 C T snp 3533.77 1/1 99 127 1 126 0.99 exonic rs3812953 ZNF469 AR synonymous SNV NM_001127464 exon2 c.C8520T p.R2840R 0.470048 0.4514 0.5345 0.4424 Uncertain 16_88502505_A->G 16 88502505 88502505 A G snp 2749.77 1/1 99 95 0 95 1.0 exonic rs1983014 ZNF469 AR nonsynonymous SNV NM_001127464 exon2 c.A8543G p.H2848R 0.996206 1 0.995175 0.9983 1 1 T 0.0 P -0.946 T 0.0 T 0.0 T Pathogenic 16_88504868_A->G 16 88504868 88504868 A G snp 5074.77 1/1 99 188 0 188 1.0 exonic rs904783 ZNF469 AR nonsynonymous SNV NM_001127464 exon2 c.A10906G p.T3636A 0.999201 1 0.999780 0.9998 1 0.02 T 0.0 P -1.030 T 0.0 T 0.0 T Pathogenic 16_88505635_A->G 16 88505635 88505635 A G snp 4091.77 1/1 99 144 0 144 1.0 exonic rs4782301 ZNF469 AR synonymous SNV NM_001127464 exon2 c.A11673G p.P3891P 0.796326 0.7748 0.775658 0.7885 0.7313 Uncertain 16_88505734_C->T 16 88505734 88505734 C T snp 2131.77 1/1 99 75 0 75 1.0 exonic rs4782362 ZNF469 AR synonymous SNV NM_001127464 exon2 c.C11772T p.S3924S 0.98722 1 0.987954 0.9957 1 Uncertain 16_88535242_C->T 16 88535242 88535242 C T snp 220.84 1/1 18 7 0 7 1.0 intronic rs55823018 ZFPM1 AU NM_153813 exon1 c.40+15156C>T 0.483227 0.5744 Uncertain 16_88535341_G->A 16 88535341 88535341 G A snp 1746.77 1/1 99 63 0 63 1.0 ncRNA_exonic rs56292801 MIR5189 AU 0.381989 0.5704 0.5333 . Uncertain 16_88535407_C->G 16 88535407 88535407 C G snp 3434.77 1/1 99 128 0 128 1.0 ncRNA_exonic rs35613341 MIR5189 AU 0.415136 0.5734 0.5667 0.75 Uncertain 16_88535591_C->T 16 88535591 88535591 C T snp 797.77 1/1 60 22 0 22 1.0 intronic rs36024491 ZFPM1 AU NM_153813 exon1 c.40+15505C>T 0.447085 0.4137 Uncertain 16_88535620_A->G 16 88535620 88535620 A G snp 493.77 1/1 39 13 0 13 1.0 intronic rs36049560 ZFPM1 AU NM_153813 exon1 c.40+15534A>G 0.521765 0.5724 Uncertain 16_88552370_A->G 16 88552370 88552370 A G snp 3340.77 1/1 99 115 0 115 1.0 exonic rs3751673 ZFPM1 AU nonsynonymous SNV NM_153813 exon2 c.A64G p.R22G 0.533746 0.4891 0.481681 0.4487 0.4964 1 T 0.0 P -0.965 T 0.0 T 0.0 T Pathogenic 16_88593211_T->- 16 88593211 88593211 T - indel 1319.73 1/1 99 43 0 43 1.0 intronic rs35678431 ZFPM1 AU NM_153813 exon5 c.73175-10delT 0.6252 0.6508 0.5895 0.57 Uncertain 16_88593212_C->G 16 88593212 88593212 C G snp 572.77 0/1 99 43 16 27 0.63 intronic rs776413606 ZFPM1 AU NM_153813 exon5 c.73175-9C>G 0.0091 0 Uncertain 16_88599697_A->C 16 88599697 88599697 A C snp 1372.77 1/1 99 42 1 41 0.98 exonic rs368520732 ZFPM1 AU nonsynonymous SNV NM_153813 exon10 c.A1331C p.E444A 0 . 0.93 T 1 N -0.945 T 0.0 T 0.0 T Pathogenic 16_88599698_G->C 16 88599698 88599698 G C snp 1408.77 1/1 99 42 0 42 1.0 exonic rs201915453 ZFPM1 AU nonsynonymous SNV NM_153813 exon10 c.G1332C p.E444D 0 . 0.6 T 1 N -0.932 T 0.0 T 0.0 T Pathogenic 16_88599700_CTCTGG->- 16 88599700 88599705 CTCTGG - indel 2840.73 1/1 99 42 0 42 1.0 exonic rs149145771 ZFPM1 AU nonframeshift deletion NM_153813 exon10 c.1334_1339del p.445_447del 0.951118 0 0 Uncertain 16_88600079_C->G 16 88600079 88600079 C G snp 2773.77 1/1 99 113 0 113 1.0 exonic rs13335396 ZFPM1 AU synonymous SNV NM_153813 exon10 c.C1713G p.P571P 0.917532 1 0.931075 0.9844 0.9995 Uncertain 16_88601481_C->T 16 88601481 88601481 C T snp 1029.77 1/1 78 32 0 32 1.0 UTR3 rs2279777 ZFPM1 AU 0.275759 0.2877 Uncertain 16_88633052_G->C 16 88633052 88633052 G C snp 4092.77 1/1 99 153 0 153 1.0 intergenic rs56983565 ZFPM1 AU 0.352037 0.3671 0.381575 0.4117 0.3884 0 D -0.956 T 0.0 T 0.0 T Uncertain 16_88643457_A->G 16 88643457 88643457 A G snp 2062.77 1/1 99 77 0 77 1.0 intronic rs936621 ZC3H18 AU 0.866214 0.9415 Uncertain 16_88644005_A->G 16 88644005 88644005 A G snp 814.77 1/1 60 29 0 29 1.0 exonic rs899728 ZC3H18 AU synonymous SNV NM_001294340 exon2 c.A474G p.K158K 0.862819 0.9405 0.888658 0.8917 0.9459 Uncertain 16_88666035_G->A 16 88666035 88666035 G A snp 633.77 1/1 48 17 0 17 1.0 intronic rs6500481 ZC3H18 AU NM_001294340 exon7 c.22667-163G>A 0.838059 0.9395 Uncertain 16_88666048_G->A 16 88666048 88666048 G A snp 839.77 1/1 63 23 0 23 1.0 intronic rs62050304 ZC3H18 AU NM_001294340 exon7 c.22667-150G>A 0.208466 0.3462 Uncertain 16_88675194_A->G 16 88675194 88675194 A G snp 1090.77 1/1 81 30 0 30 1.0 intronic rs9932692 ZC3H18 AU NM_001294340 exon8 c.31810-147A>G 0.870208 0.9444 Uncertain 16_88675529_C->T 16 88675529 88675529 C T snp 583.77 1/1 45 16 0 16 1.0 intronic rs9930974 ZC3H18 AU NM_001294340 exon8 c.31928+70C>T 0.995407 1 Uncertain 16_88677839_G->A 16 88677839 88677839 G A snp 822.77 0/1 99 63 27 36 0.57 exonic rs777943573 ZC3H18 AU nonsynonymous SNV NM_144604 exon8 c.G1370A p.R457Q 5.429e-05 0 0.07 T 1.000 D -0.644 T 0.998 D 0.979 D Pathogenic 16_88688547_T->C 16 88688547 88688547 T C snp 1184.77 1/1 49 42 2 40 0.95 intronic rs1111433 ZC3H18 AU NM_001294340 exon10 c.45073-57T>C 0.444688 0.5456 Uncertain 16_88688832_A->G 16 88688832 88688832 A G snp 2435.77 1/1 99 88 0 88 1.0 intronic rs3751675 ZC3H18 AU NM_001294340 exon10 c.45265+36A>G 0.487021 0.5456 0.435834 0.5283 0.5786 Uncertain 16_88690882_G->A 16 88690882 88690882 G A snp 323.77 0/1 99 24 11 13 0.54 intronic rs192050747 ZC3H18 AU NM_001294340 exon13 c.47478-127G>A Uncertain 16_88690882_-->AGC 16 88690882 88690882 - AGC indel 1310.73 1/1 72 24 0 24 1.0 intronic rs3830228 ZC3H18 AU NM_001294340 exon13 c.47478-127insAGC 0.261981 0.3482 Uncertain 16_88695332_G->C 16 88695332 88695332 G C snp 774.77 1/1 57 21 0 21 1.0 intronic rs4782306 ZC3H18 AU NM_001294340 exon17 c.51731+70G>C 0.877796 0.9058 Uncertain 16_88705804_T->C 16 88705804 88705804 T C snp 79.77 0/1 99 11 6 5 0.45 intronic rs2254073 IL17C AU NM_013278 exon2 c.668+87T>C 0.775958 0.7996 Uncertain 16_88709712_A->G 16 88709712 88709712 A G snp 437.77 0/1 99 37 19 18 0.49 UTR3 rs7195830 CYBA AR 0.739617 0.7371 0.768504 0.6718 0.6970 Uncertain 16_88709737_C->T 16 88709737 88709737 C T snp 603.77 0/1 99 50 24 26 0.52 UTR3 rs1049255 CYBA AR 0.469249 0.4365 0.5601 0.432 ID=CR995275;DIS=Coronary artery disease, increased risk, association with;TAG=DFP;PUB=10488959 DFP Uncertain 16_88709828_A->G 16 88709828 88709828 A G snp 515.77 0/1 99 42 17 25 0.6 exonic rs1049254 CYBA AR nonsynonymous SNV NM_000101 exon6 c.T521C p.V174A 0.73742 0.7371 0.684691 0.6892 0.75 1 T 0.000 P -0.991 T 0.0 T 0.0 T Pathogenic 16_88712731_C->T 16 88712731 88712731 C T snp 338.77 0/1 99 54 36 18 0.33 intronic rs13306294 CYBA AR NM_000101 exon2 c.2845+126C>T Uncertain 16_88712733_C->T 16 88712733 88712733 C T snp 65.77 0/1 94 53 43 10 0.19 intronic rs12926425 CYBA AR NM_000101 exon2 c.2845+128C>T Uncertain 16_88712767_A->G 16 88712767 88712767 A G snp 472.77 1/1 36 12 0 12 1.0 intronic rs12933505 CYBA AR NM_000101 exon2 c.2845+162A>G 0.647963 0.8641 Uncertain 16_88712780_A->C 16 88712780 88712780 A C snp 558.77 1/1 42 14 0 14 1.0 intronic rs12933512 CYBA AR NM_000101 exon2 c.2845+175A>C 0.646166 0.8641 Uncertain 16_88712782_A->G 16 88712782 88712782 A G snp 560.77 1/1 42 14 0 14 1.0 intronic rs12709103 CYBA AR NM_000101 exon2 c.2845+177A>G 0.646765 0.8661 Uncertain 16_88713236_A->G 16 88713236 88713236 A G snp 4776.77 1/1 99 184 0 184 1.0 exonic rs4673 CYBA AR nonsynonymous SNV NM_000101 exon4 c.T214C p.Y72H 0.664337 0.9157 0.621576 0.6908 0.9123 0.45 T 0.954 P -0.917 T 1.0 D 0.999 D CLINSIG=non-pathogenic;CLNDBN=CYBA_POLYMORPHISM;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000002351.1;CLNDSDB=.;CLNDSDBID=. ID=CM983302;DIS=Coronary artery disease, lower risk, association;TAG=DFP;PUB=9445163 DFP Pathogenic 16_88713473_G->A 16 88713473 88713473 G A snp 3366.77 1/1 99 131 0 131 1.0 intronic rs4782308 CYBA AR NM_000101 exon4 c.3748-35G>A 0.640974 0.8661 0.610014 0.6730 0.8509 Uncertain 16_88713501_A->G 16 88713501 88713501 A G snp 1673.77 0/1 99 177 99 78 0.44 intronic rs4782393 CYBA AR NM_000101 exon4 c.3748-7A>G 0.366014 0.2619 0.439954 0.4821 0.2614 Uncertain 16_88714559_C->T 16 88714559 88714559 C T snp 1307.77 0/1 99 114 57 57 0.5 intronic rs2306422 CYBA AR NM_000101 exon5 c.4762+37C>T 0.430711 0.3413 0.522279 0.5925 0.3585 Uncertain 16_88717074_G->A 16 88717074 88717074 G A snp 2572.77 0/1 99 222 113 109 0.49 intronic rs3794624 CYBA AR NM_000101 exon6 c.7603-289G>A 0.203075 0.1647 0.2529 0.1389 Uncertain 16_88717386_T->C 16 88717386 88717386 T C snp 2912.77 1/1 99 113 0 113 1.0 exonic rs8053867 CYBA AR synonymous SNV NM_000101 exon1 c.A36G p.E12E 0.995607 1 0.997217 0.9991 1 Uncertain 16_88719877_C->G 16 88719877 88719877 C G snp 2799.77 1/1 99 102 0 102 1.0 intronic rs12926212 MVD AD NM_002461 exon2 c.884+61C>G 0.521166 0.7708 Uncertain 16_88721012_G->A 16 88721012 88721012 G A snp 764.77 1/1 57 23 0 23 1.0 intronic rs12935454 MVD AD NM_002461 exon3 c.2167-87G>A 0.508586 0.7639 Uncertain 16_88723538_-->G 16 88723538 88723538 - G indel 520.73 1/1 57 19 0 19 1.0 intronic rs112485764 MVD AD NM_002461 exon7 c.4911-305insG 0.4991 0.5490 Uncertain 16_88724347_G->T 16 88724347 88724347 G T snp 1002.77 0/1 99 87 40 47 0.54 exonic rs2279258 MVD AD synonymous SNV NM_002461 exon3 c.C232A p.R78R 0.498403 0.6438 0.550562 0.6058 0.6191 Uncertain 16_88724851_G->T 16 88724851 88724851 G T snp 33.77 0/1 62 6 3 3 0.5 intronic MVD AD NM_002461 exon9 c.6125-206G>T Uncertain 16_88729573_C->T 16 88729573 88729573 C T snp 4032.77 1/1 99 149 0 149 1.0 upstream rs3794625 MVD AD 0.229433 0.3234 Uncertain 16_88744756_A->C 16 88744756 88744756 A C snp 180.9 1/1 15 5 0 5 1.0 ncRNA_intronic rs9931509 SNAI3-AS1 AU 0.448283 0.6121 Uncertain 16_88745088_C->A 16 88745088 88745088 C A snp 1090.77 0/1 99 98 51 47 0.48 ncRNA_intronic rs190768015 SNAI3-AS1 AU 0.0347444 0.0099 0.0123 0.0075 Uncertain 16_88745090_A->- 16 88745090 88745090 A - indel 1538.73 0/1 99 96 50 46 0.48 ncRNA_intronic rs147443970 SNAI3-AS1 AU 0.0347444 0.0099 0.031105 0.0122 0.0074 Uncertain 16_88748230_C->T 16 88748230 88748230 C T snp 141.77 0/1 99 25 17 8 0.32 ncRNA_intronic rs117653672 SNAI3-AS1 AU 0.0141773 0.0615 Uncertain 16_88752693_T->G 16 88752693 88752693 T G snp 3121.77 1/1 99 117 0 117 1.0 ncRNA_intronic rs11076698 SNAI3-AS1 AU 0.863818 0.995 0.866011 0.9031 0.9950 Uncertain 16_88762943_A->T 16 88762943 88762943 A T snp 1432.77 1/1 99 55 0 55 1.0 UTR3 rs1132579 RNF166 AU 0.70647 0.9494 0.5082 0.7453 Uncertain 16_88763151_G->A 16 88763151 88763151 G A snp 842.77 1/1 66 26 0 26 1.0 UTR3 rs13556 RNF166 AU 0.179712 0.2103 0.1769 0.1746 Uncertain 16_88766168_C->T 16 88766168 88766168 C T snp 1480.77 1/1 99 46 1 45 0.98 intronic rs55780854 RNF166 AU NM_178841 exon4 c.2165+28C>T 0.229633 0.3611 0.249769 0.2787 0.3662 Uncertain 16_88767769_G->C 16 88767769 88767769 G C snp 1613.77 1/1 99 62 0 62 1.0 exonic rs2306049 RNF166 AU synonymous SNV NM_178841 exon2 c.C213G p.L71L 0.388379 0.3194 0.493920 0.4881 0.3135 Uncertain 16_88767861_C->G 16 88767861 88767861 C G snp 258.8 1/1 21 7 0 7 1.0 intronic rs2306048 RNF166 AU NM_178841 exon5 c.3851+35C>G 0.503395 0.3254 0.533638 0.5515 0.3008 Uncertain 16_88772491_A->G 16 88772491 88772491 A G snp 709.77 1/1 54 22 0 22 1.0 intronic rs7194105 RNF166 AU NM_178841 exon6 c.8603-87A>G 0.803714 0.8958 Uncertain 16_88772815_C->T 16 88772815 88772815 C T snp 333.77 0/1 99 23 11 12 0.52 UTR5 rs880233 RNF166 AU 0.344848 0.7222 Uncertain 16_88773396_G->A 16 88773396 88773396 G A snp 1035.77 1/1 78 28 0 28 1.0 intronic rs2340973 CTU2 AU NM_001012759 exon2 c.605-147G>A 0.895767 0.9216 Uncertain 16_88773753_C->A 16 88773753 88773753 C A snp 548.77 0/1 99 38 18 20 0.53 intronic rs6500490 CTU2 AU NM_001012759 exon2 c.680+135C>A 0.339657 0.7292 Uncertain 16_88776141_G->A 16 88776141 88776141 G A snp 1379.77 1/1 99 40 0 40 1.0 intronic rs4598894 CTU2 AU NM_001012759 exon3 c.3407-204G>A 0.894569 0.9345 Uncertain 16_88776148_C->T 16 88776148 88776148 C T snp 570.77 0/1 99 45 25 20 0.44 intronic rs4377140 CTU2 AU NM_001012759 exon3 c.3407-197C>T 0.636382 0.7024 Uncertain 16_88776297_T->C 16 88776297 88776297 T C snp 6975.77 1/1 99 250 1 249 1.0 intronic rs4390574 CTU2 AU NM_001012759 exon3 c.3407-48T>C 0.854034 0.8889 0.895429 0.8819 0.8742 Uncertain 16_88778133_C->A 16 88778133 88778133 C A snp 1016.77 0/1 99 104 61 43 0.41 intronic rs2879902 CTU2 AU NM_001012759 exon5 c.5165+30C>A 0.607827 0.6865 0.598214 0.6412 0.6822 Uncertain 16_88778428_C->- 16 88778428 88778428 C - indel 4644.73 1/1 99 108 0 108 1.0 intronic rs11361741 CTU2 AU NM_001012759 exon6 c.5743-253delC 0.742013 0.9097 0.7682 0.8889 Uncertain 16_88778510_G->A 16 88778510 88778510 G A snp 2237.77 0/1 99 197 97 100 0.51 intronic rs72811472 CTU2 AU NM_001012759 exon6 c.5743-171G>A 0.0944489 0.127 0.1066 0.1653 Uncertain 16_88778615_G->A 16 88778615 88778615 G A snp 2001.77 0/1 99 167 80 87 0.52 intronic rs7205989 CTU2 AU NM_001012759 exon6 c.5743-66G>A 0.576278 0.6825 0.6018 0.7081 Uncertain 16_88778934_C->T 16 88778934 88778934 C T snp 192.77 0/1 60 8 2 6 0.75 intronic rs2290898 CTU2 AU NM_001012759 exon7 c.6091-95C>T 0.0944489 0.127 Uncertain 16_88779032_G->C 16 88779032 88779032 G C snp 647.77 0/1 99 54 26 28 0.52 exonic rs2290896 CTU2 AU synonymous SNV NM_001012759 exon7 c.G456C p.V152V 0.0946486 0.127 0.108023 0.1271 0.1277 Uncertain 16_88779329_C->- 16 88779329 88779329 C - indel 478.73 1/1 42 16 0 16 1.0 intronic rs67815044 CTU2 AU NM_001012759 exon7 c.6375+16delC 0.680112 0.9048 0.577088 0.3378 0.8037 Uncertain 16_88779739_A->G 16 88779739 88779739 A G snp 1386.77 0/1 99 113 54 59 0.52 exonic rs11549837 CTU2 AU nonsynonymous SNV NM_001012759 exon8 c.A757G p.M253V 0.452676 0.6637 0.366224 0.3996 0.6610 0.71 T 0.001 P -1.008 T 0.0 T 0.0 T Pathogenic 16_88779952_-->CT 16 88779952 88779952 - CT indel 1408.73 1/1 90 32 0 32 1.0 intronic rs397712941 CTU2 AU NM_001012759 exon8 c.6917+97insCT 0.861821 0.9395 Uncertain 16_88780305_C->T 16 88780305 88780305 C T snp 732.77 0/1 99 59 31 28 0.47 intronic rs2290903 CTU2 AU NM_001012759 exon9 c.7248+119C>T 0.0191693 0.0774 Uncertain 16_88780472_T->C 16 88780472 88780472 T C snp 2684.77 1/1 99 87 0 87 1.0 intronic rs7205626 CTU2 AU NM_001012759 exon10 c.7605-71T>C 0.877596 0.9395 Uncertain 16_88780518_A->G 16 88780518 88780518 A G snp 4752.77 1/1 99 187 1 186 0.99 intronic rs3826076 CTU2 AU NM_001012759 exon10 c.7605-25A>G 0.860623 0.9395 0.877834 0.8901 0.9208 Uncertain 16_88780635_GGTGTG->- 16 88780635 88780640 GGTGTG - indel 13417.7 1/1 99 182 0 182 1.0 exonic rs11278302 CTU2 AU frameshift deletion NM_001012759 exon10 c.1097_1097del p.R366fs 0.773762 0.9385 0.8037 0.9185 ID=COSM974742,COSM1380438;OCCURENCE=1(endometrium),2(large_intestine) Pathogenic 16_88780681_TGTGCGCGGG->- 16 88780681 88780690 TGTGCGCGGG - indel 4994.73 0/1 99 97 34 63 0.65 intronic rs145565756 CTU2 AU NM_001012759 exon10 c.7697+46_7697+55delTGTGCGCGGG 0.1097 0.0658 Uncertain 16_88780923_C->G 16 88780923 88780923 C G snp 4783.77 1/1 99 165 0 165 1.0 intronic rs8050715 CTU2 AU NM_001012759 exon11 c.7956+29C>G 0.860423 0.9405 0.876834 0.8896 0.9217 Uncertain 16_88781040_A->G 16 88781040 88781040 A G snp 2784.77 0/1 99 250 133 117 0.47 exonic rs8059048 CTU2 AU nonsynonymous SNV NM_001012759 exon12 c.A1247G p.Q416R 0.321885 0.6647 0.194697 0.2638 0.6633 0.17 T 0.000 P -0.979 T 0.013 T 0.021 T Pathogenic 16_88781125_T->C 16 88781125 88781125 T C snp 5399.77 1/1 99 182 0 182 1.0 exonic rs8043637 CTU2 AU synonymous SNV NM_001012759 exon12 c.T1332C p.C444C 0.871805 0.9405 0.887471 0.8929 0.9196 Uncertain 16_88781225_T->C 16 88781225 88781225 T C snp 950.77 0/1 99 88 50 38 0.43 intronic rs2306047 CTU2 AU NM_001012759 exon13 c.8329-42T>C 0.328474 0.6667 0.194612 0.2674 0.6632 Uncertain 16_88781384_-->TGT 16 88781384 88781384 - TGT indel 2549.73 0/1 99 99 53 46 0.46 intronic rs3217719 CTU2 AU NM_001012759 exon13 c.8396+50insTGT 0.384185 0.6617 0.231733 0.2993 0.6530 Uncertain 16_88781419_A->G 16 88781419 88781419 A G snp 2837.77 1/1 99 100 0 100 1.0 intronic rs2306046 CTU2 AU NM_001012759 exon14 c.8517-36A>G 0.878395 0.9405 0.895071 0.8956 0.9184 Uncertain 16_88781558_G->A 16 88781558 88781558 G A snp 1529.77 0/1 99 129 63 66 0.51 intronic rs2306045 CTU2 AU NM_001012759 exon15 c.8651-31G>A 0.0898562 0.124 0.100924 0.1202 0.1261 Uncertain 16_88782079_G->A 16 88782079 88782079 G A snp 1355.77 0/1 99 140 84 56 0.4 exonic rs1061228 PIEZO1 AR,AD synonymous SNV NM_001142864 exon51 c.C7500T p.Y2500Y 0.086262 0.126 0.0998 0.1211 0 D 0.092 P -1.071 T 0.001 T 0.001 T Likely benign 16_88782676_A->G 16 88782676 88782676 A G snp 2695.77 1/1 99 96 1 95 0.99 exonic rs2290902 PIEZO1 AR,AD synonymous SNV NM_001142864 exon49 c.T7059C p.P2353P 0.867812 0.9167 0.8896 0.8912 1.000 P Uncertain 16_88783374_A->G 16 88783374 88783374 A G snp 6252.77 1/1 99 212 0 212 1.0 intronic rs8044367 PIEZO1 AR,AD NM_001142864 exon7 c.1418-56A>G 0.891573 0.9246 Uncertain 16_88783449_C->G 16 88783449 88783449 C G snp 8224.77 1/1 99 250 1 249 1.0 exonic rs8057031 PIEZO1 AR,AD synonymous SNV NM_001142864 exon45 c.G6642C p.L2214L 0.685703 0.8313 0.631406 0.5922 0.8235 1.000 P -1.037 T Likely benign 16_88783521_T->C 16 88783521 88783521 T C snp 8090.77 1/1 99 250 0 250 1.0 exonic rs6500491 PIEZO1 AR,AD synonymous SNV NM_001142864 exon45 c.A6570G p.P2190P 0.891973 0.9256 0.906702 0.8965 0.9067 1.000 P -1.094 T Likely benign 16_88783738_A->G 16 88783738 88783738 A G snp 678.77 1/1 51 18 0 18 1.0 intronic rs4782432 PIEZO1 AR,AD NM_001142864 exon7 c.1607+119A>G 0.884984 0.9216 Uncertain 16_88783903_A->G 16 88783903 88783903 A G snp 370.77 1/1 30 10 0 10 1.0 intronic rs7186082 PIEZO1 AR,AD NM_001142864 exon7 c.1607+284A>G 0.598642 0.8373 0.4930 0.855 Uncertain 16_88784334_A->G 16 88784334 88784334 A G snp 40.74 1/1 6 2 0 2 1.0 intronic rs9924236 PIEZO1 AR,AD NM_001142864 exon7 c.1607+715A>G 0.47524 0.7748 Uncertain 16_88785126_A->G 16 88785126 88785126 A G snp 35.77 0/1 64 4 2 2 0.5 intronic rs4520817 PIEZO1 AR,AD NM_001142864 exon8 c.3969-855A>G 0.64976 0.7847 Uncertain 16_88786967_C->T 16 88786967 88786967 C T snp 2601.77 1/1 99 88 0 88 1.0 intronic rs4401037 PIEZO1 AR,AD NM_001142864 exon11 c.4928+27C>T 0.900759 0.9335 0.923346 0.8920 0.9366 Uncertain 16_88787504_A->G 16 88787504 88787504 A G snp 936.77 0/1 99 59 29 30 0.51 intronic PIEZO1 AR,AD NM_001142864 exon13 c.5561-69A>G Uncertain 16_88787704_G->C 16 88787704 88787704 G C snp 3795.77 1/1 99 137 1 136 0.99 exonic rs8043924 PIEZO1 AR,AD synonymous SNV NM_001142864 exon39 c.C5538G p.A1846A 0.852436 0.9325 0.878124 0.8361 0.9262 0.0 P -1.041 T Likely benign 16_88788477_A->G 16 88788477 88788477 A G snp 469.77 1/1 36 13 0 13 1.0 splicing rs9935872 PIEZO1 AR,AD NM_001142864 exon15 c.6462+3A>G 0.859625 0.9345 0.8316 0.9263 Pathogenic 16_88788903_T->G 16 88788903 88788903 T G snp 2533.77 1/1 99 87 0 87 1.0 intronic rs4238687 PIEZO1 AR,AD NM_001142864 exon17 c.6978-87T>G 0.896565 0.9603 Uncertain 16_88788934_A->G 16 88788934 88788934 A G snp 2242.77 1/1 99 74 0 74 1.0 intronic rs4238686 PIEZO1 AR,AD NM_001142864 exon17 c.6978-56A>G 0.661941 0.874 Uncertain 16_88788938_G->A 16 88788938 88788938 G A snp 1078.77 0/1 99 73 31 42 0.58 intronic rs2242167 PIEZO1 AR,AD NM_001142864 exon17 c.6978-52G>A 0.0816693 0.1141 Uncertain 16_88788960_C->A 16 88788960 88788960 C A snp 840.77 0/1 99 79 42 37 0.47 intronic rs3816618 PIEZO1 AR,AD NM_001142864 exon17 c.6978-30C>A 0.339457 0.6935 0.2685 0.6996 Uncertain 16_88789178_G->A 16 88789178 88789178 G A snp 777.77 0/1 99 60 31 29 0.48 intronic rs34745095 PIEZO1 AR,AD NM_001142864 exon18 c.7232-66G>A 0.326078 0.6925 Uncertain 16_88790147_G->T 16 88790147 88790147 G T snp 174.9 1/1 15 5 0 5 1.0 intronic rs8056374 PIEZO1 AR,AD NM_001142864 exon21 c.8266-131G>T 0.879992 0.8869 Uncertain 16_88790443_C->T 16 88790443 88790443 C T snp 1703.77 0/1 99 132 61 71 0.54 intronic rs186639135 PIEZO1 AR,AD NM_001142864 exon21 c.8367+64C>T 0.00119808 0.006 Uncertain 16_88791697_T->C 16 88791697 88791697 T C snp 160.77 0/1 99 22 15 7 0.32 intronic rs72811489 PIEZO1 AR,AD NM_001142864 exon23 c.9811-126T>C 0.10643 0.122 Uncertain 16_88791707_A->G 16 88791707 88791707 A G snp 423.77 0/1 99 20 7 13 0.65 intronic rs8050515 PIEZO1 AR,AD NM_001142864 exon23 c.9811-116A>G 0.320887 0.6736 Uncertain 16_88792047_A->G 16 88792047 88792047 A G snp 2516.77 1/1 99 96 0 96 1.0 exonic rs4782430 PIEZO1 AR,AD synonymous SNV NM_001142864 exon28 c.T4014C p.F1338F 0.872604 0.9296 0.904731 0.8510 0.9353 0.72 T 0.968 P -1.030 T Likely benign 16_88792097_A->G 16 88792097 88792097 A G snp 2025.77 1/1 99 68 0 68 1.0 splicing rs4782429 PIEZO1 AR,AD NM_001142864 exon24 c.10080+5A>G 0.872204 0.9296 0.904074 0.8492 0.9407 Pathogenic 16_88792933_C->T 16 88792933 88792933 C T snp 1169.77 0/1 99 97 48 49 0.51 intronic rs2247261 PIEZO1 AR,AD NM_001142864 exon26 c.10942-21C>T 0.313099 0.6478 0.187418 0.2288 0.6463 Uncertain 16_88793090_A->G 16 88793090 88793090 A G snp 3421.77 1/1 99 116 0 116 1.0 intronic rs4516218 PIEZO1 AR,AD NM_001142864 exon27 c.11110-32A>G 0.885583 0.9187 0.8174 0.8734 Uncertain 16_88793103_C->G 16 88793103 88793103 C G snp 4054.77 1/1 99 131 0 131 1.0 intronic rs4424896 PIEZO1 AR,AD NM_001142864 exon27 c.11110-19C>G 0.882987 0.9187 0.8160 0.8820 Uncertain 16_88793811_C->T 16 88793811 88793811 C T snp 79.77 0/1 99 9 5 4 0.44 intronic rs2340980 PIEZO1 AR,AD NM_001142864 exon29 c.11952-153C>T 0.216454 0.3214 Uncertain 16_88793813_T->C 16 88793813 88793813 T C snp 116.77 0/1 99 10 5 5 0.5 intronic rs8057198 PIEZO1 AR,AD NM_001142864 exon29 c.11952-151T>C 0.541334 0.2341 Uncertain 16_88793823_C->T 16 88793823 88793823 C T snp 268.77 0/1 99 17 6 11 0.65 intronic rs2879904 PIEZO1 AR,AD NM_001142864 exon29 c.11952-141C>T 0.258786 0.3433 Uncertain 16_88793843_C->T 16 88793843 88793843 C T snp 448.77 0/1 99 30 14 16 0.53 intronic rs2242169 PIEZO1 AR,AD NM_001142864 exon29 c.11952-121C>T 0.28754 0.3333 Uncertain 16_88793858_C->T 16 88793858 88793858 C T snp 513.77 0/1 99 37 18 19 0.51 intronic rs2242170 PIEZO1 AR,AD NM_001142864 exon29 c.11952-106C>T 0.527157 0.4206 Uncertain 16_88793910_C->T 16 88793910 88793910 C T snp 959.77 0/1 99 69 29 40 0.58 intronic rs2242171 PIEZO1 AR,AD NM_001142864 exon29 c.11952-54C>T 0.645367 0.747 Uncertain 16_88798341_T->C 16 88798341 88798341 T C snp 576.77 0/1 99 58 32 26 0.45 ncRNA_intronic rs76070043 LOC100289580 AU 0.465056 0.496 0.4812 0.5398 Uncertain 16_88798365_G->A 16 88798365 88798365 G A snp 632.77 0/1 53 29 5 24 0.83 ncRNA_intronic rs8055958 LOC100289580 AU 0.5959 0.6389 Uncertain 16_88799238_T->C 16 88799238 88799238 T C snp 216.84 1/1 18 6 0 6 1.0 ncRNA_intronic rs3214053 LOC100289580 AU 0.692891 0.8621 Uncertain 16_88800295_C->T 16 88800295 88800295 C T snp 188.77 0/1 99 12 5 7 0.58 ncRNA_intronic rs2306050 LOC100289580 AU 0.286542 0.5942 0.195077 0.2841 0.6005 Uncertain 16_88800546_GCTTCT->- 16 88800546 88800551 GCTTCT - indel 4071.73 0/1 99 139 79 60 0.43 ncRNA_intronic rs66935855 LOC100289580 AU 0.288139 0.6369 Uncertain 16_88801026_G->A 16 88801026 88801026 G A snp 1397.77 0/1 99 110 53 57 0.52 ncRNA_intronic rs3214056 LOC100289580 AU 0.257588 0.5536 0.1738 0.5757 Uncertain 16_88802494_G->A 16 88802494 88802494 G A snp 83.77 0/1 69 5 2 3 0.6 ncRNA_intronic rs2879906 LOC100289580 AU 0.289137 0.6002 Uncertain 16_88802540_G->C 16 88802540 88802540 G C snp 732.77 0/1 99 34 11 23 0.68 ncRNA_intronic rs734918 LOC100289580 AU 0.280551 0.6002 0.2545 0.6197 Uncertain 16_88802832_G->A 16 88802832 88802832 G A snp 708.77 0/1 99 51 25 26 0.51 ncRNA_intronic rs114153706 LOC100289580 AU 0.152556 0.13 0.2236 0.1290 Uncertain 16_88803124_T->C 16 88803124 88803124 T C snp 1094.77 1/1 78 41 0 41 1.0 exonic rs13333358 PIEZO1 AR,AD nonsynonymous SNV NM_001142864 exon11 c.A1219G p.R407G 0.430312 0.7163 0.350704 0.3243 0.7107 0.39 T 0.0 P -0.938 T 0.309 T 0.054 T Pathogenic 16_88803195_T->C 16 88803195 88803195 T C snp 1154.77 1/1 81 46 0 46 1.0 ncRNA_intronic rs4782410 LOC100289580 AU 0.999201 0.999 0.997801 0.9985 1 Uncertain 16_88803925_-->C 16 88803925 88803925 - C indel 1084.73 1/1 99 33 0 33 1.0 ncRNA_intronic rs66881450 LOC100289580 AU 0.529752 0.7837 0.380230 0.5125 0.7819 Uncertain 16_88803982_C->G 16 88803982 88803982 C G snp 1757.77 1/1 99 70 0 70 1.0 exonic rs6500493 PIEZO1 AR,AD nonsynonymous SNV NM_001142864 exon10 c.G1180C p.V394L 0.757188 0.8889 0.6942 0.9138 0.34 T 0.000 P -1.056 T 0.0 T 0.001 T Pathogenic 16_88804618_G->A 16 88804618 88804618 G A snp 1533.77 0/1 99 147 84 63 0.43 ncRNA_exonic rs8060643 LOC100289580 AU 0.36901 0.5655 0.2155 0.5533 Uncertain 16_88804734_A->G 16 88804734 88804734 A G snp 3660.77 1/1 99 136 1 135 0.99 exonic rs7184427 PIEZO1 AR,AD nonsynonymous SNV NM_001142864 exon7 c.T749C p.V250A 0.820288 0.9008 0.859334 0.7823 0.8854 0.33 T 1.0 P -0.995 T 0.03 T 0.014 T Pathogenic 16_88804856_G->A 16 88804856 88804856 G A snp 1660.77 0/1 99 100 36 64 0.64 ncRNA_intronic rs11076706 LOC100289580 AU 0.269968 0.5675 0.187143 0.1868 0.5613 Uncertain 16_88804925_C->- 16 88804925 88804925 C - indel 3087.73 1/1 99 77 0 77 1.0 ncRNA_exonic rs34600315 LOC100289580 AU 0.770767 0.8988 Uncertain 16_88805183_G->A 16 88805183 88805183 G A snp 1498.77 0/1 99 151 79 72 0.48 ncRNA_exonic rs7185630 LOC100289580 AU 0.269768 0.5675 0.188733 0.2104 0.5866 Uncertain 16_88805231_G->A 16 88805231 88805231 G A snp 969.77 0/1 99 83 46 37 0.45 ncRNA_exonic rs12443723 LOC100289580 AU 0.374002 0.5685 Uncertain 16_88805236_G->A 16 88805236 88805236 G A snp 929.77 0/1 99 77 42 35 0.45 ncRNA_exonic rs7185664 LOC100289580 AU 0.36881 0.5685 Uncertain 16_88807878_G->A 16 88807878 88807878 G A snp 768.77 0/1 99 79 42 37 0.47 intronic rs2242164 PIEZO1 AR,AD NM_001142864 exon47 c.25873-7G>A 0.291134 0.5744 0.1965 0.5581 Uncertain 16_88808111_T->C 16 88808111 88808111 T C snp 778.77 1/1 60 23 0 23 1.0 intronic rs11076707 PIEZO1 AR,AD NM_001142864 exon47 c.26012+87T>C Uncertain 16_88808141_T->C 16 88808141 88808141 T C snp 113.77 0/1 99 9 5 4 0.44 intronic rs11076708 PIEZO1 AR,AD NM_001142864 exon47 c.26012+117T>C Uncertain 16_88808257_G->T 16 88808257 88808257 G T snp 44.74 1/1 6 2 0 2 1.0 intronic rs62048192 PIEZO1 AR,AD NM_001142864 exon48 c.26448-203G>T Uncertain 16_88808287_A->G 16 88808287 88808287 A G snp 80.77 0/1 99 6 3 3 0.5 intronic rs8045899 PIEZO1 AR,AD NM_001142864 exon48 c.26448-173A>G Uncertain 16_88808291_T->C 16 88808291 88808291 T C snp 111.77 0/1 99 8 4 4 0.5 intronic rs62048193 PIEZO1 AR,AD NM_001142864 exon48 c.26448-169T>C 0.518371 0.4444 Uncertain 16_88808311_T->C 16 88808311 88808311 T C snp 254.77 0/1 99 13 5 8 0.62 intronic rs12924342 PIEZO1 AR,AD NM_001142864 exon48 c.26448-149T>C 0.522364 0.4494 Uncertain 16_88808743_A->G 16 88808743 88808743 A G snp 3766.77 1/1 99 140 0 140 1.0 exonic rs6500495 PIEZO1 AR,AD nonsynonymous SNV NM_001142864 exon3 c.T248C p.I83T 0.909345 0.9593 0.903374 0.8662 0.9568 0.6 T 1.0 P -0.975 T 0.0 T 0.0 T Pathogenic 16_88808862_C->T 16 88808862 88808862 C T snp 1777.77 1/1 99 59 0 59 1.0 intronic rs7201439 PIEZO1 AR,AD NM_001142864 exon49 c.26818+32C>T 0.837061 0.9593 0.856047 0.8211 0.9604 Uncertain 16_88808918_C->A 16 88808918 88808918 C A snp 287.77 0/1 99 20 10 10 0.5 intronic rs11648555 PIEZO1 AR,AD NM_001142864 exon49 c.26818+88C>A 0.495407 0.3938 Uncertain 16_88809368_G->T 16 88809368 88809368 G T snp 1673.77 0/1 99 189 116 73 0.39 ncRNA_exonic rs28525359 LOC339059 AU 0.509784 0.3859 0.5999 0.4136 Uncertain 16_88809434_A->G 16 88809434 88809434 A G snp 2383.77 0/1 99 250 145 105 0.42 ncRNA_exonic rs9925084 LOC339059 AU 0.525359 0.4554 0.6298 0.4596 Uncertain 16_88809480_A->G 16 88809480 88809480 A G snp 2225.77 0/1 99 241 141 100 0.41 ncRNA_exonic rs9925171 LOC339059 AU 0.525359 0.4544 0.6276 0.4596 0 D 0.0 P -0.950 T Uncertain 16_88809686_T->C 16 88809686 88809686 T C snp 2512.77 0/1 99 210 104 106 0.5 ncRNA_exonic rs9927855 LOC339059 AU 0.525958 0.4554 0.6364 0.4653 Uncertain 16_88809773_G->C 16 88809773 88809773 G C snp 4796.77 1/1 99 167 0 167 1.0 ncRNA_exonic rs8048714 LOC339059 AU 0.841454 0.9603 0.8475 0.95 Uncertain 16_88809893_G->A 16 88809893 88809893 G A snp 1767.77 0/1 99 139 75 64 0.46 ncRNA_exonic rs9933845 LOC339059 AU 0.442093 0.3849 0.5698 0.4124 Uncertain 16_88809894_G->C 16 88809894 88809894 G C snp 1809.77 0/1 99 138 75 63 0.46 ncRNA_exonic rs9933846 LOC339059 AU 0.441893 0.3839 0.5700 0.4124 0 D 0.000 P -0.911 T Uncertain 16_88810129_A->G 16 88810129 88810129 A G snp 2437.77 1/1 99 74 0 74 1.0 ncRNA_exonic rs8053135 LOC339059 AU 0.897364 0.9603 Uncertain 16_88815616_C->G 16 88815616 88815616 C G snp 326.77 0/1 99 17 4 13 0.76 intronic rs139681582 PIEZO1 AR,AD NM_001142864 exon50 c.33779-175C>G 0.0700879 0.1597 Uncertain 16_88815680_T->C 16 88815680 88815680 T C snp 956.77 0/1 99 73 32 41 0.56 intronic rs186263940 PIEZO1 AR,AD NM_001142864 exon50 c.33779-111T>C 0.00399361 0.0179 Uncertain 16_88851310_A->C 16 88851310 88851310 A C snp 451.77 1/1 33 18 0 18 1.0 exonic rs2911442 PIEZO1 AR,AD synonymous SNV NM_001142864 exon1 c.T63G p.A21A 0.299321 0.4067 0.3363 0.3984 Uncertain 16_88870099_T->C 16 88870099 88870099 T C snp 932.77 0/1 99 66 35 31 0.47 upstream rs865103 CDT1 AR 0.575679 0.6954 Uncertain 16_88872145_T->C 16 88872145 88872145 T C snp 3217.75 1/1 99 104 0 104 1.0 exonic rs507329 CDT1 AR nonsynonymous SNV NM_030928 exon5 c.T700C p.C234R 0.9998 1 0.999538 0.9993 1 1 T 0.894 P -0.972 T 0.001 T 0.0 T CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000116652.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 16_88872229_A->G 16 88872229 88872229 A G snp 1189.77 0/1 99 108 56 52 0.48 exonic rs480727 CDT1 AR nonsynonymous SNV NM_030928 exon5 c.A784G p.T262A 0.571286 0.7024 0.495457 0.4442 0.7242 0.52 T 0.0 P -1.004 T 0.003 T 0.007 T CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000116654.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 16_88872511_T->C 16 88872511 88872511 T C snp 2973.77 0/1 99 237 109 128 0.54 exonic rs510862 CDT1 AR synonymous SNV NM_030928 exon6 c.T915C p.H305H 0.870208 0.8819 0.847648 0.8183 0.8942 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000116655.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 16_88873108_C->T 16 88873108 88873108 C T snp 390.77 0/1 99 19 5 14 0.74 intronic rs75272861 CDT1 AR NM_030928 exon7 c.2843+26C>T 0.0101837 0.0506 0.0044 0.0626 Uncertain 16_88874632_C->G 16 88874632 88874632 C G snp 1676.77 0/1 99 150 74 76 0.51 exonic rs572275 CDT1 AR synonymous SNV NM_030928 exon10 c.C1587G p.L529L 0.552716 0.6637 0.483195 0.4737 0.7143 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000116645.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 16_88874778_C->T 16 88874778 88874778 C T snp 288.77 0/1 99 20 11 9 0.45 UTR3 rs15829 CDT1 AR 0.509784 0.6647 Uncertain 16_88875686_G->A 16 88875686 88875686 G A snp 143.77 0/1 97 8 3 5 0.63 downstream rs8191505 APRT AR 0.0309505 0.0992 Uncertain 16_88876666_C->G 16 88876666 88876666 C G snp 1150.77 0/1 99 121 72 49 0.4 intronic rs8191489 APRT AR NM_000485 exon2 c.451+110C>G 0.263179 0.5397 Uncertain 16_88880811_C->T 16 88880811 88880811 C T snp 214.77 0/1 99 25 15 10 0.4 UTR3 rs11076715 GALNS AR 0.285743 0.5446 0.213916 0.2549 0.5722 Uncertain 16_88880965_C->G 16 88880965 88880965 C G snp 336.77 0/1 99 37 20 17 0.46 intronic rs11076716 GALNS AR NM_000512 exon1 c.87+32C>G 0.251597 0.5218 0.166960 0.2171 0.5303 Uncertain 16_88884466_C->T 16 88884466 88884466 C T snp 1265.77 0/1 99 151 92 59 0.39 exonic rs2303271 GALNS AR synonymous SNV NM_000512 exon13 c.G1431A p.E477E 0.474241 0.627 0.399134 0.4829 0.6759 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000079026.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 16_88893013_C->G 16 88893013 88893013 C G snp 730.77 0/1 99 55 27 28 0.51 intronic rs3859024 GALNS AR NM_000512 exon5 c.12263-96C>G 0.404153 0.5685 Uncertain 16_88901850_T->A 16 88901850 88901850 T A snp 416.77 0/1 99 29 13 16 0.55 intronic rs11076721 GALNS AR NM_000512 exon7 c.20914+90T>A 0.453075 0.5694 Uncertain 16_88902183_G->A 16 88902183 88902183 G A snp 1385.77 0/1 99 122 59 63 0.52 exonic rs1064315 GALNS AR synonymous SNV NM_000512 exon7 c.C708T p.H236H 0.316693 0.5486 0.240459 0.2764 0.5754 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000079044.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 16_88902276_C->T 16 88902276 88902276 C T snp 869.77 0/1 99 74 36 38 0.51 intronic rs12934499 GALNS AR NM_000512 exon8 c.21411+19C>T 0.276757 0.5466 0.198830 0.2643 0.5747 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000079039.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 16_88902484_T->C 16 88902484 88902484 T C snp 33.77 0/1 62 6 4 2 0.33 intronic rs2269334 GALNS AR NM_000512 exon9 c.21762-124T>C 0.460064 0.5774 Uncertain 16_88902518_A->G 16 88902518 88902518 A G snp 388.77 0/1 99 28 13 15 0.54 intronic rs2269333 GALNS AR NM_000512 exon9 c.21762-90A>G 0.407149 0.5714 Uncertain 16_88902780_A->G 16 88902780 88902780 A G snp 1474.77 0/1 99 151 84 67 0.44 intronic rs12444543 GALNS AR NM_000512 exon9 c.21829+105A>G 0.357228 0.5714 Uncertain 16_88902820_T->C 16 88902820 88902820 T C snp 1105.77 0/1 99 92 46 46 0.5 intronic rs11076722 GALNS AR NM_000512 exon9 c.21829+145T>C 0.315096 0.5506 Uncertain 16_88902823_G->T 16 88902823 88902823 G T snp 1040.77 0/1 99 81 39 42 0.52 intronic rs11076723 GALNS AR NM_000512 exon9 c.21829+148G>T 0.314696 0.5486 Uncertain 16_88904025_A->G 16 88904025 88904025 A G snp 248.77 0/1 99 30 19 11 0.37 splicing rs3743545 GALNS AR NM_000512 exon10 c.23183-4A>G 0.0091853 0.0456 0.0035 0.0472 Pathogenic 16_88907283_G->T 16 88907283 88907283 G T snp 888.77 0/1 99 69 34 35 0.51 intronic rs8054994 GALNS AR NM_000512 exon11 c.26553-116G>T 0.472644 0.6081 Uncertain 16_88909028_C->T 16 88909028 88909028 C T snp 932.77 0/1 99 61 26 35 0.57 intronic rs71395332 GALNS AR NM_000512 exon13 c.28267-85C>T 0.273363 0.5357 Uncertain 16_88909788_C->T 16 88909788 88909788 C T snp 34.77 0/1 63 7 5 2 0.29 intronic rs12449164 GALNS AR NM_000512 exon13 c.28391+551C>T 0.273363 0.5377 Uncertain 16_88921493_C->A 16 88921493 88921493 C A snp 122.77 0/1 64 6 2 4 0.67 intronic rs12932588 GALNS AR NM_000512 exon14 c.42319-1672C>A 0.413738 0.4484 Uncertain 16_88921634_C->G 16 88921634 88921634 C G snp 1202.77 0/1 99 82 37 45 0.55 intronic rs34150867 GALNS AR NM_000512 exon14 c.42319-1531C>G 0.400759 0.4444 0.2676 0.4851 0.039 P Uncertain 16_88922989_-->C 16 88922989 88922989 - C indel 132.87 1/1 15 9 0 9 1.0 intronic rs113289677 GALNS AR NM_000512 exon14 c.42319-176insC 0.465256 0.5327 Uncertain 16_88925567_T->G 16 88925567 88925567 T G snp 88.28 1/1 9 3 0 3 1.0 intronic rs11076728 TRAPPC2L AU NM_016209 exon2 c.1641+368T>G 0.457069 0.5516 Uncertain 16_88927221_T->C 16 88927221 88927221 T C snp 1454.77 1/1 99 44 0 44 1.0 intronic rs3826061 TRAPPC2L AU NM_016209 exon5 c.3760-97T>C 0.434105 0.5516 Uncertain 16_88930140_CT->- 16 88930140 88930141 CT - indel 1935.73 0/1 99 93 42 51 0.55 UTR3 rs374605063 PABPN1L AU 0.00559105 0.0278 0.0008 0.025 Uncertain 16_88931363_-->GGGAG 16 88931363 88931363 - GGGAG indel 1985.73 0/1 99 94 53 41 0.44 intronic rs141563331 PABPN1L AU NM_001080487 exon3 c.1185+15insGGGAG 0.443642 0.3966 0.5432 Uncertain 16_88931914_T->C 16 88931914 88931914 T C snp 576.77 0/1 99 47 23 24 0.51 intronic rs889753 PABPN1L AU NM_001080487 exon5 c.1807-56T>C 0.522564 0.6419 Uncertain 16_88946955_A->G 16 88946955 88946955 A G snp 228.77 0/1 99 32 24 8 0.25 intronic rs564705 CBFA2T3 AU NM_005187 exon3 c.3744-172A>G 0.890974 0.8829 Uncertain 16_88948972_GCATGGCTGTGGGCGTGGCTGTGTGT->- 16 88948972 88948997 GCATGGCTGTGGGCGTGGCTGTGTGT - indel 2936.73 1/1 60 20 0 20 1.0 intronic rs375858248 CBFA2T3 AU NM_005187 exon5 c.5700-111_5700-86delGCATGGCTGTGGGCGTGGCTGTGTGT 0.207069 0.3929 Uncertain 16_88958282_C->G 16 88958282 88958282 C G snp 818.77 0/1 99 61 24 37 0.61 intronic rs3743541 CBFA2T3 AU NM_005187 exon8 c.14906-7C>G 0.38119 0.4891 0.319113 0.2566 0.4860 Uncertain 16_89160158_G->C 16 89160158 89160158 G C snp 146.03 1/1 12 6 0 6 1.0 upstream rs76688594 ACSF3 AU 0.679912 0.8155 Uncertain 16_89160329_C->G 16 89160329 89160329 C G snp 399.77 0/1 99 32 13 19 0.59 UTR5 rs145228567 ACSF3 AU 0.163538 0.1875 0.2011 0.2982 Uncertain 16_89160452_A->G 16 89160452 89160452 A G snp 284.8 1/1 21 14 0 14 1.0 intronic rs9938075 ACSF3 AU 0.676717 0.7917 Uncertain 16_89167066_C->G 16 89167066 89167066 C G snp 612.77 1/1 45 19 0 19 1.0 splicing rs57558972 ACSF3 AU 0.622604 0.4831 0.6160 0.3478 CLINSIG=non-pathogenic;CLNDBN=not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000123488.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Pathogenic 16_89167075_-->CCCAGGAGGCTCCCGGGAG 16 89167075 89167075 - CCCAGGAGGCTCCCGGGAG indel 4187.73 1/1 57 19 0 19 1.0 UTR5 rs11273288 ACSF3 AU 0.555112 0.3978 0.620671 0.6629 0.3978 Uncertain 16_89167094_T->C 16 89167094 89167094 T C snp 1992.77 1/1 99 68 0 68 1.0 exonic rs7188200 ACSF3 AU nonsynonymous SNV NM_174917 exon3 c.T5C p.L2P 0.624401 0.4841 0.6998 0.4295 0.28 T 0.0 P -0.998 T 0.0 T 0.001 T CLINSIG=non-pathogenic;CLNDBN=not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000123489.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Pathogenic 16_89167138_G->C 16 89167138 89167138 G C snp 1595.77 0/1 99 120 55 65 0.54 exonic rs11547019 ACSF3 AU nonsynonymous SNV NM_174917 exon3 c.G49C p.A17P 0.0563099 0.1597 0.028446 0.0513 0.1440 0.21 T 1 N -1.095 T 0.003 T 0.003 T CLINSIG=non-pathogenic;CLNDBN=not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000123490.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Pathogenic 16_89167140_G->C 16 89167140 89167140 G C snp 3380.77 1/1 99 125 0 125 1.0 exonic rs7201122 ACSF3 AU synonymous SNV NM_174917 exon3 c.G51C p.A17A 0.849241 0.6994 0.915179 0.8806 0.6768 CLINSIG=non-pathogenic;CLNDBN=not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000123491.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Uncertain 16_89167395_C->T 16 89167395 89167395 C T snp 4714.77 1/1 99 167 1 166 0.99 exonic rs6500526 ACSF3 AU synonymous SNV NM_174917 exon3 c.C306T p.C102C 0.61901 0.4821 0.724146 0.7072 0.4498 CLINSIG=non-pathogenic;CLNDBN=not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000123492.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Uncertain 16_89167404_T->C 16 89167404 89167404 T C snp 5119.77 1/1 99 181 0 181 1.0 exonic rs7193255 ACSF3 AU synonymous SNV NM_174917 exon3 c.T315C p.D105D 0.619808 0.4841 0.724685 0.7078 0.4496 CLINSIG=non-pathogenic;CLNDBN=not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000123493.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Uncertain 16_89167431_G->C 16 89167431 89167431 G C snp 4990.77 1/1 99 180 0 180 1.0 exonic rs6500527 ACSF3 AU synonymous SNV NM_174917 exon3 c.G342C p.A114A 0.619808 0.4821 0.722453 0.7105 0.4522 CLINSIG=non-pathogenic;CLNDBN=not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000123494.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Uncertain 16_89167443_T->C 16 89167443 89167443 T C snp 4927.77 1/1 99 175 0 175 1.0 exonic rs6500528 ACSF3 AU synonymous SNV NM_174917 exon3 c.T354C p.S118S 0.619808 0.4821 0.725454 0.7106 0.4520 CLINSIG=non-pathogenic;CLNDBN=not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000123495.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Uncertain 16_89167458_C->A 16 89167458 89167458 C A snp 4673.77 1/1 99 170 1 169 0.99 exonic rs6500529 ACSF3 AU synonymous SNV NM_174917 exon3 c.C369A p.V123V 0.619209 0.4792 0.7096 0.4497 CLINSIG=non-pathogenic;CLNDBN=not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000123496.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Uncertain 16_89167792_C->T 16 89167792 89167792 C T snp 2061.77 1/1 99 71 0 71 1.0 intronic rs8060043 ACSF3 AU NM_001243279 exon3 c.666+37C>T 0.615615 0.4821 0.751038 0.6539 0.4888 Uncertain 16_89168911_T->C 16 89168911 89168911 T C snp 225.84 1/1 18 7 0 7 1.0 intronic rs7200676 ACSF3 AU NM_001243279 exon4 c.1922-100T>C 0.618411 0.496 Uncertain 16_89168935_G->C 16 89168935 89168935 G C snp 277.8 1/1 21 11 0 11 1.0 intronic rs4782458 ACSF3 AU NM_001243279 exon4 c.1922-76G>C 0.622005 0.4931 Uncertain 16_89168981_T->C 16 89168981 89168981 T C snp 1036.77 1/1 78 34 1 33 0.97 intronic rs4782457 ACSF3 AU NM_001243279 exon4 c.1922-30T>C 0.617612 0.4931 0.713912 0.7044 0.4695 Uncertain 16_89169000_C->T 16 89169000 89169000 C T snp 453.77 0/1 99 52 34 18 0.35 intronic rs72817437 ACSF3 AU NM_001243279 exon4 c.1922-11C>T 0.0559105 0.1726 0.028086 0.0450 0.1510 CLINSIG=non-pathogenic;CLNDBN=not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000123497.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Uncertain 16_89169205_C->G 16 89169205 89169205 C G snp 3915.77 1/1 99 145 0 145 1.0 intronic rs4782456 ACSF3 AU NM_001243279 exon4 c.2078+38C>G 0.61901 0.4792 0.725566 0.7117 0.4607 Uncertain 16_89169220_CT->- 16 89169220 89169221 CT - indel 6901.73 1/1 99 133 0 133 1.0 intronic rs10578141 ACSF3 AU NM_001243279 exon4 c.2078+53_2078+54delCT 0.605232 0.4931 0.701358 0.6961 0.4603 Uncertain 16_89169284_G->A 16 89169284 89169284 G A snp 662.77 0/1 99 47 23 24 0.51 intronic rs72817438 ACSF3 AU NM_001243279 exon4 c.2078+117G>A 0.0559105 0.1726 Uncertain 16_89169312_T->C 16 89169312 89169312 T C snp 765.77 1/1 57 21 0 21 1.0 intronic rs4782455 ACSF3 AU NM_001243279 exon4 c.2078+145T>C 0.617013 0.4931 Uncertain 16_89178448_C->T 16 89178448 89178448 C T snp 150.77 0/1 99 10 5 5 0.5 intronic rs72817452 ACSF3 AU NM_001243279 exon5 c.11410-51C>T 0.0517173 0.1587 0.028078 Uncertain 16_89178773_A->G 16 89178773 89178773 A G snp 360.77 0/1 99 26 14 12 0.46 intronic rs4782449 ACSF3 AU NM_001243279 exon5 c.11565+119A>G 0.578874 0.3482 Uncertain 16_89178839_T->C 16 89178839 89178839 T C snp 117.03 1/1 12 4 0 4 1.0 intronic rs4782329 ACSF3 AU NM_001243279 exon5 c.11565+185T>C 0.694688 0.6438 Uncertain 16_89180664_C->G 16 89180664 89180664 C G snp 2899.77 1/1 99 101 0 101 1.0 intronic rs9940965 ACSF3 AU NM_001243279 exon6 c.13657-82C>G 0.840455 0.6647 Uncertain 16_89180883_G->A 16 89180883 89180883 G A snp 1216.77 0/1 99 95 49 46 0.48 exonic rs3743979 ACSF3 AU nonsynonymous SNV NM_174917 exon6 c.G1114A p.V372M 0.629593 0.4821 0.708141 0.7099 0.4849 0.0 P -0.992 T 0.022 T 0.012 T Pathogenic 16_89180935_G->T 16 89180935 89180935 G T snp 460.77 0/1 99 39 23 16 0.41 intronic rs3743980 ACSF3 AU NM_001243279 exon6 c.13806+40G>T 0.540735 0.3462 0.662665 0.6592 0.3564 Uncertain 16_89187378_G->C 16 89187378 89187378 G C snp 640.77 0/1 99 49 26 23 0.47 intronic rs3743983 ACSF3 AU NM_001243279 exon7 c.20232+57G>C 0.61901 0.4792 Uncertain 16_89188672_C->A 16 89188672 89188672 C A snp 593.77 0/1 99 39 18 21 0.54 intronic rs8058601 ACSF3 AU NM_001243279 exon7 c.20232+1351C>A 0.629593 0.4782 Uncertain 16_89188907_T->- 16 89188907 89188907 T - indel 1934.73 0/1 99 96 45 51 0.53 intronic rs148093859 ACSF3 AU NM_001243279 exon7 c.20232+1586delT 0.057508 0.1627 Uncertain 16_89212200_A->G 16 89212200 89212200 A G snp 218.77 0/1 99 19 10 9 0.47 intronic rs4302032 ACSF3 AU NM_001243279 exon10 c.45256-145A>G 0.656949 0.6716 Uncertain 16_89220473_C->T 16 89220473 89220473 C T snp 1250.77 0/1 99 117 66 51 0.44 intronic rs72819316 ACSF3 AU NM_001243279 exon11 c.53408-24C>T 0.063099 0.1607 0.033703 0.0596 0.1506 Uncertain 16_89234676_A->G 16 89234676 89234676 A G snp 1385.77 0/1 99 104 46 58 0.56 ncRNA_exonic rs12597281 LOC400558 AU 0.407947 0.6617 0.3502 0.7083 Uncertain 16_89234723_A->G 16 89234723 89234723 A G snp 2055.77 0/1 99 173 80 93 0.54 ncRNA_exonic rs72819343 LOC400558 AU 0.189097 0.3016 0.1748 0.3590 0 D -0.987 T Uncertain 16_89235258_C->A 16 89235258 89235258 C A snp 992.77 0/1 99 87 39 48 0.55 ncRNA_exonic rs72819344 LOC400558 AU 0.121006 0.3006 0.1016 0.2723 Uncertain 16_89245955_C->T 16 89245955 89245955 C T snp 2256.77 0/1 99 228 121 107 0.47 exonic rs2287358 CDH15 AU synonymous SNV NM_004933 exon2 c.C174T p.H58H 0.0688898 0.1885 0.029394 0.0599 0.1839 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000116617.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 16_89246670_T->C 16 89246670 89246670 T C snp 1085.77 0/1 99 90 43 47 0.52 exonic rs59865771 CDH15 AU synonymous SNV NM_004933 exon3 c.T264C p.D88D 0.430911 0.8224 0.267934 0.3565 0.7822 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000116623.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 16_89251798_C->T 16 89251798 89251798 C T snp 978.77 0/1 99 97 55 42 0.43 intronic rs2287356 CDH15 AU NM_004933 exon5 c.13502+57C>T 0.266174 0.3065 0.2839 0.4703 Uncertain 16_89251832_C->T 16 89251832 89251832 C T snp 501.77 0/1 99 53 30 23 0.43 intronic rs2287355 CDH15 AU NM_004933 exon5 c.13502+91C>T 0.0682907 0.1885 0.0326 0.2255 Uncertain 16_89251851_A->G 16 89251851 89251851 A G snp 194.77 0/1 99 31 23 8 0.26 intronic rs2287354 CDH15 AU NM_004933 exon5 c.13502+110A>G 0.503195 0.8353 0.5100 0.8227 Uncertain 16_89254814_G->A 16 89254814 89254814 G A snp 318.77 0/1 99 15 5 10 0.67 intronic rs183646377 CDH15 AU NM_004933 exon7 c.16454+121G>A Uncertain 16_89257915_T->C 16 89257915 89257915 T C snp 470.77 0/1 99 28 10 18 0.64 intronic rs80175346 CDH15 AU NM_004933 exon9 c.19641+35T>C 0.0507188 0.1806 0.000697 0.0259 0.1791 Uncertain 16_89259011_C->T 16 89259011 89259011 C T snp 80.77 0/1 98 8 3 5 0.63 intronic CDH15 AU NM_004933 exon11 c.20613+159C>T Uncertain 16_89259993_A->G 16 89259993 89259993 A G snp 1233.77 0/1 99 117 64 53 0.45 exonic rs3815615 CDH15 AU synonymous SNV NM_004933 exon12 c.A1971G p.Q657Q 0.4998 0.8333 0.396007 0.5074 0.7937 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000116619.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 16_89261482_C->A 16 89261482 89261482 C A snp 860.77 0/1 99 78 39 39 0.5 exonic rs2270416 CDH15 AU stopgain NM_004933 exon14 c.C2364A p.Y788X 0.0750799 0.1825 0.036486 0.0619 0.1896 0.43 T 0.895 P CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000116622.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 16_89262431_G->A 16 89262431 89262431 G A snp 136.77 0/1 99 23 15 8 0.35 exonic rs2287353 SLC22A31 AU synonymous SNV NM_001242757 exon8 c.C993T p.A331A 0.132588 0.1508 0.2302 0.2333 Uncertain 16_89263851_T->C 16 89263851 89263851 T C snp 1283.77 0/1 99 109 53 56 0.51 intronic rs3743986 SLC22A31 AU NM_001242757 exon2 c.1411+34T>C 0.423722 0.6905 0.3826 0.7030 Uncertain 16_89265049_A->G 16 89265049 89265049 A G snp 2793.77 0/1 99 235 111 124 0.53 intronic SLC22A31 AU NM_001242757 exon5 c.2653-10A>G Uncertain 16_89265095_C->T 16 89265095 89265095 C T snp 2562.77 0/1 99 220 110 110 0.5 exonic rs4785728 SLC22A31 AU nonsynonymous SNV NM_001242757 exon4 c.G239A p.G80E 0.0694888 0.1815 0.0306 0.2172 Pathogenic 16_89265101_C->A 16 89265101 89265101 C A snp 2525.77 0/1 99 218 108 110 0.5 exonic rs74640353 SLC22A31 AU nonsynonymous SNV NM_001242757 exon4 c.G233T p.G78V 0.0834665 0.1806 0.0330 0.2172 Pathogenic 16_89265466_A->G 16 89265466 89265466 A G snp 1987.77 0/1 99 164 75 89 0.54 exonic rs12926888 SLC22A31 AU synonymous SNV NM_001242757 exon3 c.T93C p.G31G 0.479832 0.8403 0.4450 0.8267 Uncertain 16_89267770_C->- 16 89267770 89267770 C - indel 410.73 1/1 33 12 0 12 1.0 intergenic rs34679577 SLC22A31 AU 1 1 Uncertain 16_89287247_T->C 16 89287247 89287247 T C snp 54.74 1/1 6 2 0 2 1.0 intronic rs4785773 ZNF778 AU 0.993011 1 Uncertain 16_89287614_AG->- 16 89287614 89287615 AG - indel 984.73 1/1 60 20 0 20 1.0 intronic rs10586525 ZNF778 AU NM_182531 exon2 c.25+54_25+55delAG 0.754393 0.8938 0.795629 Uncertain 16_89288418_A->G 16 89288418 89288418 A G snp 1946.77 1/1 99 71 0 71 1.0 intronic rs9931258 ZNF778 AU NM_182531 exon3 c.964-81A>G 0.753594 0.8948 Uncertain 16_89291210_-->GTGA 16 89291210 89291210 - GTGA indel 4050.73 1/1 99 60 0 60 1.0 intronic rs10625512 ZNF778 AU NM_001201407 exon5 c.3675insGTGA 0.750998 0.8929 0.8138 0.8689 ID=COSM1588601;OCCURENCE=2(endometrium) Uncertain 16_89291309_A->T 16 89291309 89291309 A T snp 93.28 1/1 9 3 0 3 1.0 intronic rs28533907 ZNF778 AU NM_001201407 exon5 c.3675+99A>T 0.990815 1 Uncertain 16_89291945_-->T 16 89291945 89291945 - T indel 1169.73 1/1 99 54 0 54 1.0 intronic rs11464538 ZNF778 AU NM_182531 exon5 c.4427-17insT 0.766973 0.8919 0.8449 0.8583 Uncertain 16_89291948_C->T 16 89291948 89291948 C T snp 1609.77 1/1 99 52 0 52 1.0 intronic rs12926996 ZNF778 AU NM_182531 exon5 c.4427-14C>T 0.769768 0.8948 0.8662 0.8787 Uncertain 16_89291951_C->T 16 89291951 89291951 C T snp 1551.77 1/1 99 50 0 50 1.0 intronic rs12926997 ZNF778 AU NM_182531 exon5 c.4427-11C>T 0.769768 0.8948 0.8663 0.8784 Uncertain 16_89292920_A->G 16 89292920 89292920 A G snp 139.03 1/1 12 4 0 4 1.0 intronic rs11642976 ZNF778 AU NM_182531 exon6 c.5566-181A>G 0.776158 0.8948 Uncertain 16_89293271_A->C 16 89293271 89293271 A C snp 3061.77 0/1 99 241 110 131 0.54 exonic rs28417933 ZNF778 AU nonsynonymous SNV NM_182531 exon6 c.A491C p.K164T 0.59405 0.5556 0.726689 0.7686 0.5572 0.02 T 0.003 P -1.071 T 0.736 T 0.094 P Pathogenic 16_89293614_A->G 16 89293614 89293614 A G snp 3590.77 1/1 99 128 0 128 1.0 exonic rs4785626 ZNF778 AU synonymous SNV NM_182531 exon6 c.A834G p.E278E 0.770168 0.8948 0.819015 0.8687 0.8848 Uncertain 16_89293730_C->T 16 89293730 89293730 C T snp 1689.77 0/1 99 151 75 76 0.5 exonic rs72819401 ZNF778 AU nonsynonymous SNV NM_182531 exon6 c.C950T p.A317V 0.0680911 0.1806 0.029152 0.0591 0.1779 0.21 T 0.0 P -1.031 T 0.031 T 0.063 T Pathogenic 16_89294184_G->A 16 89294184 89294184 G A snp 1423.77 1/1 99 38 0 38 1.0 exonic rs4785627 ZNF778 AU synonymous SNV NM_182531 exon6 c.G1404A p.A468A 0.76877 0.8948 0.806417 0.8668 0.8848 Uncertain 16_89294381_T->C 16 89294381 89294381 T C snp 2333.77 0/1 99 181 87 94 0.52 exonic rs28415940 ZNF778 AU nonsynonymous SNV NM_182531 exon6 c.T1601C p.I534T 0.701078 0.7123 0.782212 0.8086 0.7060 0.12 T 0.000 P -1.085 T 0.002 T 0.005 T Pathogenic 16_89294439_G->T 16 89294439 89294439 G T snp 2139.77 0/1 99 171 88 83 0.49 exonic rs9921361 ZNF778 AU nonsynonymous SNV NM_182531 exon6 c.G1659T p.Q553H 0.698083 0.7113 0.780735 0.8071 0.7057 0 D 0.000 P -1.008 T 0.002 T 0.001 T Pathogenic 16_89294511_C->T 16 89294511 89294511 C T snp 1423.77 0/1 99 128 67 61 0.48 exonic rs28638280 ZNF778 AU synonymous SNV NM_182531 exon6 c.C1731T p.T577T 0.76857 0.8948 0.806720 0.8672 0.8849 Uncertain 16_89294595_C->T 16 89294595 89294595 C T snp 923.77 0/1 99 87 51 36 0.41 exonic rs74466939 ZNF778 AU synonymous SNV NM_182531 exon6 c.C1815T p.I605I 0.16234 0.1746 0.109118 0.1478 0.2320 Uncertain 16_89294697_C->T 16 89294697 89294697 C T snp 1012.77 0/1 99 82 40 42 0.51 exonic rs60437616 ZNF778 AU synonymous SNV NM_182531 exon6 c.C1917T p.H639H 0.700479 0.7123 0.775147 0.8083 0.7046 Uncertain 16_89294827_A->G 16 89294827 89294827 A G snp 1073.77 0/1 99 89 45 44 0.49 exonic rs55974122 ZNF778 AU nonsynonymous SNV NM_182531 exon6 c.A2047G p.N683D 0.0686901 0.1825 0.029104 0.0595 0.1799 0.04 T 0.0 P -0.992 T 0.0 T 0.0 T Pathogenic 16_89299054_-->A 16 89299054 89299054 - A indel 663.73 1/1 45 17 1 16 0.94 intergenic rs71158785 ZNF778 AU 0.992212 1 Uncertain 16_89299200_C->A 16 89299200 89299200 C A snp 3085.77 0/1 99 250 127 123 0.49 intergenic rs61078268 ZNF778 AU 0.794728 0.7222 0.8406 0.6970 0.62 T -1.036 T Uncertain 16_89299227_C->T 16 89299227 89299227 C T snp 2976.77 0/1 99 250 131 119 0.48 intergenic rs62068537 ZNF778 AU 0.698682 0.7133 0.7771 0.6894 Uncertain 16_89299280_T->A 16 89299280 89299280 T A snp 2944.77 0/1 99 229 120 109 0.48 intergenic rs62068538 ZNF778 AU 0.699681 0.7143 0.7980 0.7 0.38 T -1.035 T Uncertain 16_89299353_T->A 16 89299353 89299353 T A snp 736.77 0/1 99 95 66 29 0.31 intergenic rs72821305 ZNF778 AU 0.0670927 0.1786 0.0179 0.1667 1 T Uncertain 16_89299383_G->C 16 89299383 89299383 G C snp 1375.77 1/1 99 39 0 39 1.0 intergenic rs62068539 ZNF778 AU 0.990815 1 0.9944 1 Uncertain 16_89299830_A->G 16 89299830 89299830 A G snp 423.77 0/1 99 56 33 23 0.41 intergenic rs34889096 ZNF778 AU 0.683706 0.6974 0.3820 0.32 1 T -0.950 T 0.003 T 0.005 T Uncertain 16_89299851_G->A 16 89299851 89299851 G A snp 74.77 0/1 99 101 82 19 0.19 intergenic rs35483107 ZNF778 AU 0.261382 0.2163 0.1219 0.1163 0 D -1.077 T 0.998 D 0.846 D Uncertain 16_89299853_G->A 16 89299853 89299853 G A snp 1377.77 0/1 99 102 49 53 0.52 intergenic rs34789784 ZNF778 AU 0.284345 0.2738 0.1225 0.1136 Uncertain 16_89299874_G->A 16 89299874 89299874 G A snp 1458.77 0/1 99 156 91 65 0.42 intergenic rs200501645 ZNF778 AU Uncertain 16_89299876_G->A 16 89299876 89299876 G A snp 1573.77 0/1 99 160 93 67 0.42 intergenic rs201707299 ZNF778 AU 1 T -0.986 T 0.0 T 0.0 T Uncertain 16_89300008_A->G 16 89300008 89300008 A G snp 2787.77 0/1 99 245 139 106 0.43 intergenic rs202032741 ZNF778 AU 0.0670927 0.1786 0.0259 0.1667 0.1 T -0.888 T 0.597 T 0.402 P Uncertain 16_89300009_T->C 16 89300009 89300009 T C snp 2799.77 0/1 99 246 139 107 0.43 intergenic rs117871132 ZNF778 AU 0.0670927 0.1786 0.0259 0.1667 Uncertain 16_89300015_A->G 16 89300015 89300015 A G snp 7640.77 1/1 99 250 3 247 0.99 intergenic rs62068548 ZNF778 AU 0.990216 0.999 0.9994 1 Uncertain 16_89300030_CA->- 16 89300030 89300031 CA - indel 4532.73 0/1 99 249 138 111 0.45 intergenic rs147567597 ZNF778 AU 0.066893 0.1786 0.0260 0.1667 Uncertain 16_89300147_A->G 16 89300147 89300147 A G snp 7407.77 1/1 99 250 2 248 0.99 intergenic rs62068549 ZNF778 AU 0.988219 1 0.9363 0.8365 Uncertain 16_89300182_A->G 16 89300182 89300182 A G snp 2279.77 0/1 99 250 145 105 0.42 intergenic rs200249085 ZNF778 AU 0.197684 0.2401 0.0091 0.0259 1 T -0.992 T 0.006 T 0.001 T Uncertain 16_89300228_A->C 16 89300228 89300228 A C snp 2999.77 0/1 99 248 125 123 0.5 intergenic ZNF778 AU 0 D -0.772 T 0.96 D 0.78 D Uncertain 16_89341168_C->G 16 89341168 89341168 C G snp 40.77 0/1 69 5 3 2 0.4 intronic rs12709112 ANKRD11 AD NM_013275 exon3 c.6336-53C>G 0.257388 0.4444 Uncertain 16_89345822_G->C 16 89345822 89345822 G C snp 111.77 0/1 99 18 9 9 0.5 exonic rs4785560 ANKRD11 AD nonsynonymous SNV NM_013275 exon9 c.C7128G p.D2376E 0.185903 0.4067 0.1635 0.4588 1 T 1.000 P -1.021 T 0.001 T 0.003 T Pathogenic 16_89346774_G->T 16 89346774 89346774 G T snp 1086.77 0/1 99 106 57 49 0.46 exonic rs117997391 ANKRD11 AD nonsynonymous SNV NM_013275 exon9 c.C6176A p.P2059H 0.0910543 0.2341 0.002326 0.0547 0.2566 0 D 1.0 P -1.113 T 0.988 D 0.436 D Pathogenic 16_89348038_G->C 16 89348038 89348038 G C snp 2100.77 0/1 99 186 101 85 0.46 exonic rs113527563 ANKRD11 AD nonsynonymous SNV NM_013275 exon9 c.C4912G p.P1638A 0.105232 0.245 0.012619 0.0569 0.2645 0.3 T 0.0 P -1.016 T 0.001 T 0.001 T ID=COSM148137;OCCURENCE=1(stomach) Pathogenic 16_89350178_G->A 16 89350178 89350178 G A snp 1378.77 0/1 99 105 55 50 0.48 exonic rs2279349 ANKRD11 AD synonymous SNV NM_013275 exon9 c.C2772T p.T924T 0.763578 0.6161 0.852185 0.7981 0.6153 Uncertain 16_89371827_G->A 16 89371827 89371827 G A snp 951.77 0/1 99 82 44 38 0.46 intronic rs3114912 ANKRD11 AD NM_013275 exon10 c.36867+75G>A 0.699681 0.5129 Uncertain 16_89371839_G->A 16 89371839 89371839 G A snp 884.77 0/1 99 63 32 31 0.49 intronic rs2277908 ANKRD11 AD NM_013275 exon10 c.36867+87G>A 0.696685 0.5139 Uncertain 16_89379936_T->C 16 89379936 89379936 T C snp 2736.77 1/1 99 106 0 106 1.0 intronic rs3102350 ANKRD11 AD NM_013275 exon11 c.48455-3404T>C 0.952875 0.9425 0.9705 0.9338 Uncertain 16_89389645_G->C 16 89389645 89389645 G C snp 1440.77 1/1 99 58 0 58 1.0 UTR5 rs3114900 LOC100287036 AU 0.984625 1 Uncertain 16_89592690_G->A 16 89592690 89592690 G A snp 476.77 1/1 36 13 0 13 1.0 intronic rs3935626 SPG7 AR,AD NM_199367 exon5 c.17911-46G>A 0.103435 0.1121 0.142121 0.1487 0.1268 Uncertain 16_89612980_C->- 16 89612980 89612980 C - indel 1169.73 0/1 99 107 42 65 0.61 intronic rs35936864 SPG7 AR,AD NM_003119 exon11 c.38240-85delC 0.743011 0.7361 Uncertain 16_89613037_G->A 16 89613037 89613037 G A snp 5275.77 1/1 99 202 0 202 1.0 intronic rs462464 SPG7 AR,AD NM_003119 exon11 c.38240-28G>A 0.19389 0.1508 0.212527 0.1980 0.1697 Uncertain 16_89613123_A->G 16 89613123 89613123 A G snp 6560.77 1/1 99 242 0 242 1.0 exonic rs2292954 SPG7 AR,AD nonsynonymous SNV NM_003119 exon11 c.A1507G p.T503A 0.10643 0.131 0.141120 0.1507 0.1478 0.27 T 1.000 P -0.928 T 0.0 T 0.002 T CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000118409.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 16_89613233_A->C 16 89613233 89613233 A C snp 2124.77 1/1 99 63 0 63 1.0 intronic rs461405 SPG7 AR,AD NM_003119 exon11 c.38343+65A>C 0.188898 0.1518 Uncertain 16_89615333_C->T 16 89615333 89615333 C T snp 56.74 1/1 6 2 0 2 1.0 intronic rs67643661 SPG7 AR,AD NM_003119 exon12 c.39696+812C>T 0.160144 0.131 Uncertain 16_89615453_A->C 16 89615453 89615453 A C snp 1747.77 1/1 99 62 0 62 1.0 intronic rs4325552 SPG7 AR,AD NM_003119 exon12 c.39696+932A>C 0.154752 0.1359 0.1577 0.1173 Uncertain 16_89615765_T->G 16 89615765 89615765 T G snp 4767.77 1/1 99 168 0 168 1.0 intronic rs2019604 SPG7 AR,AD NM_003119 exon13 c.42076-1136T>G 0.106629 0.1339 0.1375 0.0957 Uncertain 16_89616772_G->T 16 89616772 89616772 G T snp 419.77 1/1 33 14 0 14 1.0 intronic rs71396924 SPG7 AR,AD NM_003119 exon13 c.42076-129G>T 0.153355 0.125 Uncertain 16_89616790_G->A 16 89616790 89616790 G A snp 930.77 1/1 69 30 0 30 1.0 intronic rs66845605 SPG7 AR,AD NM_003119 exon13 c.42076-111G>A 0.146366 0.128 Uncertain 16_89617064_G->C 16 89617064 89617064 G C snp 2648.77 1/1 99 77 1 76 0.99 intronic rs3794632 SPG7 AR,AD NM_003119 exon13 c.42192+47G>C 0.169329 0.13 0.211888 0.1705 0.1464 Uncertain 16_89620148_A->G 16 89620148 89620148 A G snp 2648.77 1/1 99 99 0 99 1.0 intronic rs730264 SPG7 AR,AD NM_003119 exon15 c.45376-53A>G 0.180312 0.1359 0.1812 0.1519 Uncertain 16_89620328_G->A 16 89620328 89620328 G A snp 2384.77 1/1 99 86 0 86 1.0 exonic rs12960 SPG7 AR,AD nonsynonymous SNV NM_003119 exon15 c.G2063A p.R688Q 0.105831 0.131 0.140988 0.1509 0.1468 0.42 T 1.0 P -1.051 T 0.818 T 0.258 P CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000118410.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 16_89627460_T->G 16 89627460 89627460 T G snp 3164.77 1/1 99 116 0 116 1.0 exonic rs2280370 RPL13 AU synonymous SNV NM_033251 exon1 c.T93G p.R31R 0.190895 0.1458 0.204834 0.1904 0.1686 Uncertain 16_89627671_C->T 16 89627671 89627671 C T snp 532.77 1/1 42 14 0 14 1.0 exonic rs174035 RPL13 AU synonymous SNV NM_033251 exon2 c.C141T p.A47A 0.14377 0.13 0.146140 0.2621 0.2735 Uncertain 16_89628870_C->G 16 89628870 89628870 C G snp 2908.77 1/1 99 110 0 110 1.0 intronic rs885268 RPL13 AU NM_000977 exon5 c.1432+71C>G 0.148363 0.128 0.184625 0.1765 0.1624 Uncertain 16_89629218_A->G 16 89629218 89629218 A G snp 1129.77 1/1 81 39 0 39 1.0 intronic rs258327 RPL13 AU NM_000977 exon6 c.1924-73A>G 0.993211 1 Uncertain 16_89645437_G->T 16 89645437 89645437 G T snp 2379.77 1/1 99 72 0 72 1.0 intronic rs369230 CPNE7 AU NM_014427 exon3 c.3099+33G>T 0.629193 0.4762 0.648160 0.7101 0.5042 Uncertain 16_89649635_G->A 16 89649635 89649635 G A snp 54.74 1/1 6 3 0 3 1.0 intronic rs440729 CPNE7 AU NM_014427 exon4 c.7546-216G>A 0.6875 0.5833 Uncertain 16_89649675_G->A 16 89649675 89649675 G A snp 421.77 1/1 33 12 0 12 1.0 intronic rs455868 CPNE7 AU NM_014427 exon4 c.7546-176G>A 0.681709 0.5794 Uncertain 16_89650371_T->G 16 89650371 89650371 T G snp 1991.77 1/1 99 64 0 64 1.0 intronic rs408800 CPNE7 AU NM_153636 exon4 c.8130-64T>G 0.819688 0.7024 Uncertain 16_89653032_G->A 16 89653032 89653032 G A snp 2016.77 0/1 99 159 65 94 0.59 intronic rs452176 CPNE7 AU NM_153636 exon8 c.10772-45G>A 0.398163 0.3105 0.465836 0.5128 0.2891 Uncertain 16_89653816_G->A 16 89653816 89653816 G A snp 295.77 0/1 99 15 5 10 0.67 intronic rs74213330 CPNE7 AU NM_153636 exon9 c.11205+306G>A Uncertain 16_89654000_TGAG->- 16 89654000 89654003 TGAG - indel 1534.73 0/1 99 66 39 27 0.41 intronic rs140664874 CPNE7 AU NM_153636 exon9 c.11205+490_11205+493delTGAG 0.307907 0.1915 0.4330 0.1136 Uncertain 16_89656163_A->G 16 89656163 89656163 A G snp 727.77 0/1 99 50 24 26 0.52 intronic rs397564 CPNE7 AU NM_153636 exon11 c.13999-141A>G 0.59345 0.7302 Uncertain 16_89656251_T->C 16 89656251 89656251 T C snp 2226.77 0/1 99 184 90 94 0.51 intronic rs464349 CPNE7 AU NM_153636 exon11 c.13999-53T>C 0.59365 0.7312 0.512922 Uncertain 16_89656424_C->A 16 89656424 89656424 C A snp 1253.77 0/1 99 106 55 51 0.48 intronic rs74037233 CPNE7 AU NM_153636 exon11 c.14054+65C>A 0.227236 0.5863 0.079939 Uncertain 16_89657719_T->A 16 89657719 89657719 T A snp 276.77 0/1 99 21 10 11 0.52 intronic rs2292950 CPNE7 AU NM_153636 exon13 c.15363+51T>A 0.162939 0.5069 0.030395 0.1049 0.5073 Uncertain 16_89662063_T->C 16 89662063 89662063 T C snp 1271.77 0/1 99 103 56 47 0.46 intronic rs76970229 CPNE7 AU NM_153636 exon14 c.19706+52T>C 0.0636981 0.3085 0.000833 0.0249 0.2767 Uncertain 16_89662422_A->G 16 89662422 89662422 A G snp 605.77 0/1 99 36 15 21 0.58 intronic rs461227 CPNE7 AU NM_153636 exon14 c.19706+411A>G 0.471645 0.8373 Uncertain 16_89662875_G->C 16 89662875 89662875 G C snp 1443.77 0/1 99 120 58 62 0.52 intronic rs3751684 CPNE7 AU NM_153636 exon15 c.20586-16G>C 0.146166 0.4673 0.049800 0.0549 0.4566 Uncertain 16_89662990_T->C 16 89662990 89662990 T C snp 897.77 0/1 99 61 25 36 0.59 exonic rs694285 CPNE7 AU synonymous SNV NM_153636 exon15 c.T1638C p.G546G 0.472045 0.8333 0.286803 0.3098 0.8127 0.0 P -1.019 T Likely benign 16_89663025_C->T 16 89663025 89663025 C T snp 479.77 0/1 99 33 14 19 0.58 exonic rs3751682 CPNE7 AU nonsynonymous SNV NM_153636 exon15 c.C1673T p.P558L 0.0395367 0.1905 0.000385 0.0152 0.1630 0 D 1 N -1.048 T 0.999 D 0.849 D ID=COSM435940;OCCURENCE=1(breast),1(large_intestine),1(central_nervous_system) Pathogenic 16_89696999_C->T 16 89696999 89696999 C T snp 316.78 1/1 27 10 0 10 1.0 intronic rs395593 DPEP1 AU NM_004413 exon2 c.104+77C>T 0.975839 0.999 Uncertain 16_89702203_C->T 16 89702203 89702203 C T snp 549.77 1/1 42 15 0 15 1.0 intronic rs74736114 DPEP1 AU NM_004413 exon3 c.5497-112C>T 0.108626 0.5149 Uncertain 16_89702653_C->T 16 89702653 89702653 C T snp 2955.77 1/1 99 100 0 100 1.0 intronic rs2070993 DPEP1 AU NM_004413 exon4 c.5853-18C>T 0.108227 0.5119 0.002321 0.0559 0.5265 Uncertain 16_89703519_C->T 16 89703519 89703519 C T snp 1000.77 0/1 99 81 45 36 0.44 intronic rs461115 DPEP1 AU NM_004413 exon7 c.6793-92C>T Uncertain 16_89704365_G->C 16 89704365 89704365 G C snp 1366.77 0/1 99 141 83 58 0.41 exonic rs1126464 DPEP1 AU nonsynonymous SNV NM_001128141 exon10 c.G1051C p.E351Q 0.241813 0.3562 0.187394 0.2652 0.3527 0.24 T 0.0 P -0.925 T 0.046 T 0.03 T Pathogenic 16_89712138_T->G 16 89712138 89712138 T G snp 512.77 1/1 39 14 0 14 1.0 UTR3 rs3751692 CHMP1A AR 0.110423 0.5208 Uncertain 16_89712374_A->C 16 89712374 89712374 A C snp 3101.77 1/1 99 110 0 110 1.0 UTR3 rs117555004 CHMP1A AR 0.110823 0.5218 0.003081 0.0461 0.5090 0 D 0.0 P -0.907 T 0.021 T 0.017 T Uncertain 16_89712380_G->A 16 89712380 89712380 G A snp 2894.77 1/1 99 104 0 104 1.0 UTR3 rs116954456 CHMP1A AR 0.110623 0.5218 0.003077 0.0462 0.5092 0 D 0.0 P -0.922 T 0.958 D 0.242 D Uncertain 16_89712889_C->T 16 89712889 89712889 C T snp 723.77 1/1 54 20 0 20 1.0 intronic rs460879 CHMP1A AR NM_002768 exon2 c.461-45C>T 0.370008 0.5377 0.396931 0.4266 0.5667 Uncertain 16_89713423_C->T 16 89713423 89713423 C T snp 1079.77 1/1 78 35 0 35 1.0 intronic rs118148658 CHMP1A AR NM_002768 exon3 c.1137-187C>T 0.110823 0.5228 0.0312 0.5365 Uncertain 16_89713563_C->G 16 89713563 89713563 C G snp 2908.77 1/1 99 108 0 108 1.0 intronic rs79284383 CHMP1A AR NM_002768 exon3 c.1137-47C>G 0.110423 0.5208 0.003200 0.0775 0.5694 Uncertain 16_89715671_T->C 16 89715671 89715671 T C snp 309.78 1/1 24 9 0 9 1.0 intronic rs2303774 CHMP1A AR NM_002768 exon4 c.3285-87T>C 0.110823 0.5228 Uncertain 16_89715696_C->T 16 89715696 89715696 C T snp 631.77 1/1 48 18 0 18 1.0 intronic rs2303773 CHMP1A AR NM_002768 exon4 c.3285-62C>T 0.110823 0.5228 Uncertain 16_89715916_C->G 16 89715916 89715916 C G snp 5418.77 1/1 99 208 2 206 0.99 intronic rs3815949 CHMP1A AR NM_002768 exon4 c.3432+11C>G 0.111022 0.5228 0.003214 0.0442 0.5116 Uncertain 16_89718223_G->A 16 89718223 89718223 G A snp 50.74 1/1 6 2 0 2 1.0 intronic rs12599306 CHMP1A AR NM_002768 exon5 c.5581+169G>A 0.110224 0.5198 Uncertain 16_89720409_T->A 16 89720409 89720409 T A snp 2193.77 1/1 99 86 0 86 1.0 intronic rs258338 CHMP1A AR NM_002768 exon6 c.7858+78T>A 0.989417 1 0.987297 Uncertain 16_89724313_C->G 16 89724313 89724313 C G snp 2224.77 1/1 99 85 0 85 1.0 UTR5 rs11545432 SPATA33 AU 0.11242 0.5258 0.0204 0.5075 Uncertain 16_89724572_T->C 16 89724572 89724572 T C snp 797.77 1/1 60 24 0 24 1.0 UTR5 rs154664 SPATA33 AU 0.976038 1 Uncertain 16_89753971_T->C 16 89753971 89753971 T C snp 5262.77 1/1 99 189 0 189 1.0 intronic rs258325 CDK10 AU NM_052988 exon1 c.87+766T>C 0.985024 1 0.9976 1 Uncertain 16_89754255_T->G 16 89754255 89754255 T G snp 1163.77 1/1 84 41 0 41 1.0 intronic rs258324 CDK10 AU NM_052988 exon1 c.87+1050T>G 0.80651 0.7014 Uncertain 16_89758973_A->G 16 89758973 89758973 A G snp 4162.77 1/1 99 155 0 155 1.0 intronic rs187282 CDK10 AU NM_001160367 exon6 c.1911+49A>G 0.982029 1 0.981764 0.9938 1 Uncertain 16_89760552_T->C 16 89760552 89760552 T C snp 2531.77 1/1 99 95 0 95 1.0 intronic rs460057 CDK10 AU NM_001160367 exon9 c.3567-28T>C 0.981829 1 0.981841 0.9939 1 Uncertain 16_89760652_C->T 16 89760652 89760652 C T snp 1616.77 0/1 99 143 70 73 0.51 intronic rs2162943 CDK10 AU NM_001160367 exon9 c.3627+12C>T 0.468251 0.4236 0.452447 0.4039 0.4535 Uncertain 16_89760712_G->A 16 89760712 89760712 G A snp 1225.77 0/1 99 107 53 54 0.5 intronic rs2115400 CDK10 AU NM_001160367 exon9 c.3627+72G>A 0.475839 0.4246 0.450285 0.4504 0.4955 Uncertain 16_89761591_G->A 16 89761591 89761591 G A snp 950.77 0/1 99 71 38 33 0.46 intronic rs2235129 CDK10 AU NM_001160367 exon12 c.4687-109G>A 0.0563099 0.255 Uncertain 16_89763045_C->T 16 89763045 89763045 C T snp 1271.77 1/1 96 40 0 40 1.0 UTR3 rs460367 SPATA2L AU 0.984625 1 Uncertain 16_89763122_G->- 16 89763122 89763122 G - indel 1833.73 0/1 99 130 80 50 0.38 UTR3 rs78704865 SPATA2L AU 0.0517173 0.254 Uncertain 16_89763214_T->C 16 89763214 89763214 T C snp 1867.77 0/1 99 150 73 77 0.51 UTR3 rs4247353 SPATA2L AU 0.491414 0.4246 0.4715 0.4293 Uncertain 16_89763359_G->C 16 89763359 89763359 G C snp 511.77 0/1 99 62 41 21 0.34 UTR3 rs3803690 SPATA2L AU 0.48103 0.4286 Uncertain 16_89774396_G->A 16 89774396 89774396 G A snp 1543.77 0/1 99 130 65 65 0.5 intronic rs1110331 VPS9D1 AU NM_004913 exon1 c.94+34G>A 0.669728 0.7391 0.570110 0.6244 0.7824 Uncertain 16_89774411_T->C 16 89774411 89774411 T C snp 3318.77 1/1 99 123 0 123 1.0 intronic rs11860230 VPS9D1 AU NM_004913 exon1 c.94+49T>C 0.971446 1 0.972040 0.9909 1 Uncertain 16_89775422_C->G 16 89775422 89775422 C G snp 146.03 1/1 12 6 0 6 1.0 intronic rs59660050 VPS9D1 AU NM_004913 exon3 c.1096+58C>G 0.694289 0.7391 Uncertain 16_89775541_C->G 16 89775541 89775541 C G snp 354.77 0/1 99 32 19 13 0.41 intronic rs60990888 VPS9D1 AU NM_004913 exon4 c.1366-93C>G 0.0792732 0.2599 Uncertain 16_89778202_-->C 16 89778202 89778202 - C indel 336.73 1/1 33 11 0 11 1.0 intronic rs369262424 VPS9D1 AU NM_004913 exon8 c.4021-87insC Uncertain 16_89778219_A->T 16 89778219 89778219 A T snp 589.77 1/1 45 20 0 20 1.0 intronic rs28588261 VPS9D1 AU NM_004913 exon8 c.4021-70A>T 0.337859 0.5417 Uncertain 16_89778224_G->C 16 89778224 89778224 G C snp 656.77 1/1 48 24 0 24 1.0 intronic rs7206836 VPS9D1 AU NM_004913 exon8 c.4021-65G>C 0.976438 1 Uncertain 16_89782989_A->G 16 89782989 89782989 A G snp 1040.77 0/1 99 85 41 44 0.52 exonic rs7206570 VPS9D1 AU synonymous SNV NM_004913 exon4 c.T312C p.I104I 0.895168 0.7401 0.958300 0.9514 0.7710 Uncertain 16_89783187_C->T 16 89783187 89783187 C T snp 1133.77 1/1 84 42 0 42 1.0 exonic rs4785706 VPS9D1 AU synonymous SNV NM_004913 exon3 c.G219A p.K73K 0.97504 0.999 0.974901 0.9906 0.9999 Uncertain 16_89784065_C->T 16 89784065 89784065 C T snp 2913.77 0/1 99 250 124 126 0.5 ncRNA_exonic rs76378121 VPS9D1-AS1 AU 0.0519169 0.254 0.0068 0.2376 Uncertain 16_89784398_C->G 16 89784398 89784398 C G snp 2428.77 0/1 99 250 130 120 0.48 ncRNA_exonic rs4785707 VPS9D1-AS1 AU 0.205272 0.499 0.0264 0.2576 Uncertain 16_89784521_T->A 16 89784521 89784521 T A snp 6197.77 1/1 99 232 0 232 1.0 ncRNA_exonic rs10468304 VPS9D1-AS1 AU 0.957668 1 Uncertain 16_89784646_G->A 16 89784646 89784646 G A snp 153.77 0/1 99 9 4 5 0.56 intronic rs12597095 VPS9D1 AU NM_004913 exon14 c.11166-788G>A 0.0523163 0.256 Uncertain 16_89785603_A->C 16 89785603 89785603 A C snp 2276.77 0/1 99 205 105 100 0.49 intronic rs79957186 VPS9D1 AU NM_004913 exon14 c.11242+93A>C 0.053115 0.2599 0.0201 0.2513 1.000 N -1.011 T Uncertain 16_89787968_C->G 16 89787968 89787968 C G snp 343.77 0/1 99 31 16 15 0.48 UTR5 rs147792551 ZNF276 AU 0.0423323 0.1111 Uncertain 16_89789127_T->C 16 89789127 89789127 T C snp 2562.77 0/1 99 250 146 104 0.42 exonic ZNF276 AU nonsynonymous SNV NM_001113525 exon2 c.T394C p.S132P 0.52 T 1 D -0.878 T 0.001 T 0.005 T Pathogenic 16_89789898_T->C 16 89789898 89789898 T C snp 1914.77 0/1 99 163 82 81 0.5 exonic rs6500437 ZNF276 AU nonsynonymous SNV NM_001113525 exon4 c.T787C p.W263R 0.54353 0.7282 0.368628 0.4143 0.7622 0.81 T 1.0 P -0.996 T 0.016 T 0.008 T Pathogenic 16_89793555_T->C 16 89793555 89793555 T C snp 333.77 0/1 99 24 12 12 0.5 intronic rs2099105 ZNF276 AU NM_001113525 exon5 c.5638-131T>C 0.795727 0.7431 Uncertain 16_89795797_C->G 16 89795797 89795797 C G snp 489.77 0/1 99 33 14 19 0.58 intronic rs11640734 ZNF276 AU NM_001113525 exon6 c.7678+71C>G 0.0922524 0.256 Uncertain 16_89795813_A->C 16 89795813 89795813 A C snp 223.77 0/1 99 22 12 10 0.45 intronic rs34120897 ZNF276 AU NM_001113525 exon6 c.7678+87A>C 0.104034 0.2599 Uncertain 16_89795859_G->A 16 89795859 89795859 G A snp 44.77 0/1 33 3 1 2 0.67 intronic rs11640450 ZNF276 AU NM_001113525 exon6 c.7678+133G>A 0.0626997 0.244 Uncertain 16_89799950_C->T 16 89799950 89799950 C T snp 575.77 0/1 99 56 33 23 0.41 exonic rs17177891 ZNF276 AU synonymous SNV NM_001113525 exon8 c.C1341T p.G447G 0.0726837 0.2579 0.060566 0.0659 0.2240 Uncertain 16_89800058_C->T 16 89800058 89800058 C T snp 50.74 1/1 6 2 0 2 1.0 intronic rs3803689 ZNF276 AU NM_001113525 exon8 c.11917+93C>T 0.613818 0.7887 Uncertain 16_89800550_G->A 16 89800550 89800550 G A snp 1887.77 0/1 99 154 83 71 0.46 intronic rs7189734 ZNF276 AU NM_001113525 exon9 c.12398+104G>A 0.164736 0.2629 Uncertain 16_89804336_T->- 16 89804336 89804336 T - indel 10197.7 1/1 99 250 0 250 1.0 UTR3 rs17233826 FANCA AR 0.4862 0.9793 Uncertain 16_89805261_A->G 16 89805261 89805261 A G snp 5930.77 1/1 99 215 1 214 1.0 UTR3 rs1800359 ZNF276 AU 0.850839 0.9901 0.699061 0.7044 0.9872 Uncertain 16_89805794_A->G 16 89805794 89805794 A G snp 501.77 0/1 99 33 16 17 0.52 UTR3 rs9282682 ZNF276 AU 0.140575 0.2649 Uncertain 16_89805914_T->C 16 89805914 89805914 T C snp 393.77 0/1 99 30 12 18 0.6 exonic rs9282681 FANCA AR nonsynonymous SNV NM_000135 exon40 c.A3982G p.T1328A 0.0722843 0.2599 0.051315 0.0538 0.2774 0.3 T 0.000 P -1.102 T 0.005 T 0.003 T CLINSIG=untested;CLNDBN=not_specified;CLNREVSTAT=no_assertion_provided;CLNACC=RCV000120951.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 16_89805977_G->A 16 89805977 89805977 G A snp 377.77 0/1 99 38 22 16 0.42 UTR3 rs1061646 ZNF276 AU 0.538139 0.7073 0.347497 0.4098 0.7009 Uncertain 16_89806063_G->C 16 89806063 89806063 G C snp 318.77 0/1 99 28 12 16 0.57 UTR3 rs1061647 ZNF276 AU 0.0720847 0.2589 Uncertain 16_89806343_C->A 16 89806343 89806343 C A snp 1204.77 0/1 99 100 51 49 0.49 UTR3 rs11647746 ZNF276 AU 0.141174 0.2629 0.1000 0.2286 0 D 0.0 P -1.015 T 0.0 T 0.0 T CLINSIG=untested;CLNDBN=not_specified;CLNREVSTAT=no_assertion_provided;CLNACC=RCV000122400.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 16_89806347_A->T 16 89806347 89806347 A T snp 2828.77 1/1 99 104 0 104 1.0 UTR3 rs7195906 ZNF276 AU 0.70647 0.9871 0.5227 0.9832 0 D 0.000 P -1.005 T 0.0 T 0.0 T CLINSIG=untested;CLNDBN=not_specified;CLNREVSTAT=no_assertion_provided;CLNACC=RCV000122401.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 16_89807131_C->A 16 89807131 89807131 C A snp 112.77 0/1 99 37 29 8 0.22 UTR3 rs11649162 ZNF276 AU 0.0720847 0.2589 Uncertain 16_89807233_C->G 16 89807233 89807233 C G snp 781.77 0/1 99 97 62 35 0.36 exonic rs11649210 FANCA AR synonymous SNV NM_000135 exon38 c.G3807C p.L1269L 0.137979 0.2629 0.107956 0.0998 0.2315 Uncertain 16_89809171_C->T 16 89809171 89809171 C T snp 934.77 0/1 99 127 75 52 0.41 intronic rs34420680 FANCA AR NM_000135 exon7 c.4199-36C>T 0.071885 0.2579 0.059480 0.0650 0.2253 Uncertain 16_89809319_T->C 16 89809319 89809319 T C snp 1175.77 0/1 99 80 31 49 0.61 exonic rs1800358 FANCA AR synonymous SNV NM_000135 exon37 c.A3654G p.P1218P 0.157548 0.2629 0.131964 0.1041 0.2293 Uncertain 16_89811196_T->C 16 89811196 89811196 T C snp 379.77 1/1 30 12 0 12 1.0 intronic rs9923733 FANCA AR NM_000135 exon8 c.6358-170T>C 0.707268 0.9881 Uncertain 16_89811209_C->T 16 89811209 89811209 C T snp 302.77 0/1 99 19 8 11 0.58 intronic rs17233623 FANCA AR NM_000135 exon8 c.6358-157C>T 0.123802 0.2629 Uncertain 16_89811546_A->G 16 89811546 89811546 A G snp 1032.77 0/1 99 84 36 48 0.57 intronic rs2074904 FANCA AR NM_000135 exon8 c.6471+67A>G 0.071885 0.2579 Uncertain 16_89812852_TG->- 16 89812852 89812853 TG - indel 263.73 0/1 99 18 11 7 0.39 intronic rs17233602 FANCA AR NM_000135 exon9 c.7983-139_7983-138delTG 0.128195 0.2579 Uncertain 16_89813194_C->T 16 89813194 89813194 C T snp 1359.77 0/1 99 172 105 67 0.39 intronic rs1800355 FANCA AR NM_000135 exon10 c.8230-44C>T 0.0716853 0.2569 0.058891 0.0946 0.3055 Uncertain 16_89815217_C->T 16 89815217 89815217 C T snp 1064.77 0/1 99 57 19 38 0.67 intronic rs1800345 FANCA AR NM_000135 exon11 c.10167+42C>T 0.544928 0.7252 0.380370 0.4311 0.7715 ID=CS137887;DIS=Breast cancer, association with;TAG=DP;PUB=23021409 DP Uncertain 16_89816314_A->G 16 89816314 89816314 A G snp 752.77 0/1 99 48 22 26 0.54 splicing rs17227064 FANCA AR NM_000135 exon12 c.11302+4A>G 0.0716853 0.2579 0.058787 0.0652 0.2262 Pathogenic 16_89816333_C->T 16 89816333 89816333 C T snp 477.77 0/1 99 34 16 18 0.53 intronic rs17227057 FANCA AR NM_000135 exon12 c.11302+23C>T 0.0716853 0.2579 0.059557 0.0654 0.2265 Uncertain 16_89816367_T->G 16 89816367 89816367 T G snp 262.77 0/1 99 19 8 11 0.58 intronic rs1800344 FANCA AR NM_000135 exon12 c.11302+57T>G 0.0716853 0.2579 Uncertain 16_89816407_A->G 16 89816407 89816407 A G snp 80.77 0/1 70 6 3 3 0.5 intronic rs17233455 FANCA AR NM_000135 exon12 c.11302+97A>G 0.071885 0.2579 Uncertain 16_89818491_T->C 16 89818491 89818491 T C snp 565.77 0/1 99 50 25 25 0.5 intronic rs3743860 FANCA AR NM_000135 exon13 c.13537-54T>C 0.586462 0.7312 0.433859 Uncertain 16_89825065_G->A 16 89825065 89825065 G A snp 1559.77 0/1 99 172 100 72 0.42 exonic rs17226980 FANCA AR synonymous SNV NM_000135 exon30 c.C2901T p.S967S 0.0720847 0.2599 0.059403 0.0655 0.2322 Uncertain 16_89828220_A->G 16 89828220 89828220 A G snp 92.77 0/1 99 14 10 4 0.29 intronic rs12933317 FANCA AR NM_000135 exon15 c.23348-136A>G 0.0728834 0.2609 Uncertain 16_89828437_A->G 16 89828437 89828437 A G snp 1325.77 0/1 99 123 64 59 0.48 intronic rs17233253 FANCA AR NM_000135 exon15 c.23422+7A>G 0.0720847 0.2599 0.059403 0.0656 0.2322 Uncertain 16_89828484_C->T 16 89828484 89828484 C T snp 1013.77 0/1 99 71 32 39 0.55 intronic rs17226841 FANCA AR NM_000135 exon15 c.23422+54C>T 0.0720847 0.2599 0.064827 Uncertain 16_89829196_G->C 16 89829196 89829196 G C snp 282.77 0/1 99 22 12 10 0.45 intronic rs12598276 FANCA AR NM_000135 exon15 c.23422+766G>C 0.0722843 0.2609 0.0345 0.2941 Uncertain 16_89829201_G->C 16 89829201 89829201 G C snp 257.77 0/1 99 18 9 9 0.5 intronic rs9806894 FANCA AR NM_000135 exon15 c.23422+771G>C 0.56869 0.7272 0.4785 0.6940 Uncertain 16_89831243_C->A 16 89831243 89831243 C A snp 2827.77 0/1 99 206 88 118 0.57 intronic rs11076619 FANCA AR NM_000135 exon16 c.26289-54C>A 0.0714856 0.2579 0.0659 0.2306 Uncertain 16_89831520_A->T 16 89831520 89831520 A T snp 1165.77 0/1 99 91 44 47 0.52 intronic rs11076620 FANCA AR NM_000135 exon16 c.26466+46A>T 0.0716853 0.2589 0.059711 0.0657 0.2321 Uncertain 16_89831558_C->T 16 89831558 89831558 C T snp 651.77 0/1 99 46 23 23 0.5 intronic rs12600151 FANCA AR NM_000135 exon16 c.26466+84C>T 0.0716853 0.2589 Uncertain 16_89831630_G->A 16 89831630 89831630 G A snp 45.77 0/1 74 11 8 3 0.27 intronic rs12600047 FANCA AR NM_000135 exon16 c.26466+156G>A 0.0716853 0.2589 Uncertain 16_89836323_C->T 16 89836323 89836323 C T snp 4515.77 1/1 99 165 0 165 1.0 exonic rs7195066 FANCA AR nonsynonymous SNV NM_000135 exon26 c.G2426A p.G809D 0.666733 0.9881 0.430671 0.4690 0.9854 0.47 T 0.0 P -1.008 T 0.0 T 0.0 T CLINSIG=untested;CLNDBN=not_specified;CLNREVSTAT=no_assertion_provided;CLNACC=RCV000120927.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 ID=CM137288;DIS=Fanconi anaemia A;TAG=DM?;PUB=23898106 DM? Pathogenic 16_89836507_T->C 16 89836507 89836507 T C snp 6240.77 1/1 99 233 0 233 1.0 intronic rs7200990 FANCA AR NM_000135 exon19 c.31565-66T>C 0.988219 1 0.9705 0.9997 Uncertain 16_89836865_A->G 16 89836865 89836865 A G snp 375.77 1/1 30 11 0 11 1.0 intronic rs886951 FANCA AR NM_000135 exon20 c.31963-106A>G 0.688898 0.9861 Uncertain 16_89836872_T->C 16 89836872 89836872 T C snp 468.77 1/1 36 14 0 14 1.0 intronic rs886950 FANCA AR NM_000135 exon20 c.31963-99T>C 0.684505 0.9881 Uncertain 16_89837927_A->G 16 89837927 89837927 A G snp 123.78 0/1 25 5 1 4 0.8 intronic rs11076621 FANCA AR NM_000135 exon21 c.33077-158A>G 0.0722843 0.2619 Uncertain 16_89837951_T->C 16 89837951 89837951 T C snp 127.77 0/1 66 8 2 6 0.75 intronic rs11076622 FANCA AR NM_000135 exon21 c.33077-134T>C 0.072484 0.2629 Uncertain 16_89838078_A->G 16 89838078 89838078 A G snp 467.77 0/1 99 46 23 23 0.5 intronic rs1800340 FANCA AR NM_000135 exon21 c.33077-7A>G 0.559904 0.7242 0.374269 0.4315 0.7516 Uncertain 16_89839637_C->A 16 89839637 89839637 C A snp 149.77 0/1 99 10 5 5 0.5 intronic rs1800339 FANCA AR NM_000135 exon22 c.34670-41C>A 0.072484 0.2629 0.051800 0.0502 0.2657 Uncertain 16_89839766_G->C 16 89839766 89839766 G C snp 943.77 0/1 99 83 43 40 0.48 exonic rs17232910 FANCA AR nonsynonymous SNV NM_000135 exon22 c.C1927G p.P643A 0.0740815 0.2698 0.047659 0.0522 0.2703 0.85 T 0.000 P -1.101 T 0.002 T 0.001 T CLINSIG=untested;CLNDBN=not_specified;CLNREVSTAT=no_assertion_provided;CLNACC=RCV000120920.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 16_89839854_T->C 16 89839854 89839854 T C snp 747.77 0/1 99 61 30 31 0.51 intronic rs17226519 FANCA AR NM_000135 exon22 c.34784+62T>C 0.072484 0.2629 Uncertain 16_89839976_T->C 16 89839976 89839976 T C snp 137.77 0/1 99 9 4 5 0.56 intronic rs17226512 FANCA AR NM_000135 exon22 c.34784+184T>C 0.072484 0.2629 Uncertain 16_89842029_C->G 16 89842029 89842029 C G snp 443.77 0/1 99 40 20 20 0.5 intronic rs3785275 FANCA AR NM_000135 exon23 c.37141-120C>G 0.545128 0.7222 Uncertain 16_89845110_A->T 16 89845110 89845110 A T snp 610.77 1/1 45 18 0 18 1.0 intronic rs7187436 FANCA AR NM_000135 exon24 c.40200-98A>T 0.678315 0.9871 Uncertain 16_89845178_-->AC 16 89845178 89845178 - AC indel 1539.73 0/1 99 51 18 33 0.65 intronic rs1799742 FANCA AR NM_000135 exon24 c.40200-30insAC 0.0720847 0.2609 0.059026 0.0656 0.2341 Uncertain 16_89845194_A->G 16 89845194 89845194 A G snp 1736.77 1/1 99 64 0 64 1.0 intronic rs1800337 FANCA AR NM_000135 exon24 c.40200-14A>G 0.682508 0.9871 0.488150 0.5115 0.9845 Uncertain 16_89845287_A->G 16 89845287 89845287 A G snp 1254.77 0/1 99 101 44 57 0.56 intronic rs2302162 FANCA AR NM_000135 exon24 c.40250+29A>G 0.0722843 0.2619 0.059557 0.0657 0.2348 Uncertain 16_89846195_A->G 16 89846195 89846195 A G snp 178.9 1/1 15 6 0 6 1.0 intronic rs1800335 FANCA AR NM_000135 exon26 c.41268-81A>G 0.677516 0.9851 Uncertain 16_89849480_C->T 16 89849480 89849480 C T snp 1195.77 1/1 87 39 0 39 1.0 exonic rs2239359 FANCA AR nonsynonymous SNV NM_000135 exon16 c.G1501A p.G501S 0.624002 0.8671 0.482302 0.4995 0.8551 1 T 0.0 P -0.957 T 0.0 T 0.0 T CLINSIG=untested;CLNDBN=not_specified;CLNREVSTAT=no_assertion_provided;CLNACC=RCV000120917.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 ID=CM137880;DIS=Breast cancer, association with;TAG=DP;PUB=23021409 DP Pathogenic 16_89849583_C->T 16 89849583 89849583 C T snp 41.77 0/1 59 5 3 2 0.4 intronic rs2239360 FANCA AR NM_000135 exon28 c.44502+73C>T 0.612819 0.7272 Uncertain 16_89851179_C->T 16 89851179 89851179 C T snp 767.77 0/1 99 65 31 34 0.52 intronic rs17232630 FANCA AR NM_000135 exon29 c.46253-82C>T 0.0714856 0.2589 Uncertain 16_89857622_T->C 16 89857622 89857622 T C snp 111.77 0/1 99 9 5 4 0.44 intronic rs1057042 FANCA AR NM_000135 exon30 c.52802-188T>C 0.573083 0.7341 Uncertain 16_89857700_A->G 16 89857700 89857700 A G snp 950.77 0/1 99 93 52 41 0.44 intronic rs8049660 FANCA AR NM_000135 exon30 c.52802-110A>G 0.628994 0.7331 Uncertain 16_89857935_G->A 16 89857935 89857935 G A snp 1378.77 0/1 99 123 61 62 0.5 exonic rs11646374 FANCA AR nonsynonymous SNV NM_000135 exon14 c.C1235T p.A412V 0.0704872 0.254 0.059557 0.0651 0.2254 0.11 T 1.000 P -1.060 T 0.952 T 0.349 D CLINSIG=untested;CLNDBN=not_specified;CLNREVSTAT=no_assertion_provided;CLNACC=RCV000120915.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 ID=CM1313109;DIS=Fanconi anaemia;TAG=DM?;PUB=24286411 DM? Pathogenic 16_89857964_T->C 16 89857964 89857964 T C snp 977.77 0/1 99 64 32 32 0.5 intronic rs1800330 FANCA AR NM_000135 exon30 c.52936+20T>C 0.571885 0.7341 0.390659 0.4370 0.7611 Uncertain 16_89858024_A->G 16 89858024 89858024 A G snp 868.77 1/1 66 22 0 22 1.0 intronic rs6500450 FANCA AR NM_000135 exon30 c.52936+80A>G 0.703075 0.9881 Uncertain 16_89858417_C->A 16 89858417 89858417 C A snp 1283.77 0/1 99 150 88 62 0.41 exonic rs1800331 FANCA AR synonymous SNV NM_000135 exon13 c.G1143T p.T381T 0.071885 0.254 0.060634 0.0652 0.2249 Uncertain 16_89858505_T->C 16 89858505 89858505 T C snp 1564.77 0/1 99 127 61 66 0.52 intronic rs6500452 FANCA AR NM_000135 exon31 c.53468+29T>C 0.531749 0.7292 0.369960 0.4118 0.7576 Uncertain 16_89858525_C->G 16 89858525 89858525 C G snp 3095.77 1/1 99 115 0 115 1.0 intronic rs1800287 FANCA AR NM_000135 exon31 c.53468+49C>G 0.702676 0.9871 0.511850 0.5175 0.9845 Uncertain 16_89858657_C->G 16 89858657 89858657 C G snp 56.74 1/1 6 2 0 2 1.0 intronic rs6500453 FANCA AR NM_000135 exon31 c.53468+181C>G 0.703075 0.9881 Uncertain 16_89859008_G->A 16 89859008 89859008 G A snp 314.77 0/1 99 29 18 11 0.38 intronic rs3856 FANCA AR NM_000135 exon32 c.53947+53G>A 0.530152 0.7282 0.355672 Uncertain 16_89859016_T->- 16 89859016 89859016 T - indel 981.73 1/1 72 25 0 25 1.0 intronic rs35617323 FANCA AR NM_000135 exon32 c.53947+61delT 0.642971 0.9871 0.452350 Uncertain 16_89859035_G->A 16 89859035 89859035 G A snp 282.77 0/1 99 16 6 10 0.63 intronic rs17232533 FANCA AR NM_000135 exon32 c.53947+80G>A 0.071885 0.254 Uncertain 16_89862434_T->C 16 89862434 89862434 T C snp 904.77 0/1 99 89 48 41 0.46 intronic rs11648881 FANCA AR NM_000135 exon33 c.57418+8T>C 0.0754792 0.2728 0.060480 0.0717 0.2479 ID=CS137886;DIS=Breast cancer, association with;TAG=DP;PUB=23021409 DP Uncertain 16_89866043_T->C 16 89866043 89866043 T C snp 5101.77 1/1 99 192 1 191 0.99 exonic rs7190823 FANCA AR nonsynonymous SNV NM_000135 exon9 c.A796G p.T266A 0.690495 0.9871 0.506002 0.5166 0.9847 1 T 0.0 P -1.001 T 0.0 T 0.0 T CLINSIG=untested;CLNDBN=not_specified;CLNREVSTAT=no_assertion_provided;CLNACC=RCV000120967.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 ID=CM137879;DIS=Breast cancer, association with;TAG=DP;PUB=23021409 DP Pathogenic 16_89866160_A->G 16 89866160 89866160 A G snp 1910.77 1/1 99 57 0 57 1.0 intronic rs7186192 FANCA AR NM_000135 exon35 c.61038+114A>G 0.772963 0.9891 Uncertain 16_89869761_T->C 16 89869761 89869761 T C snp 6075.77 1/1 99 225 0 225 1.0 intronic rs1800286 FANCA AR NM_000135 exon36 c.64741+12T>C 0.842851 0.9911 0.695753 0.7013 0.9896 Uncertain 16_89874559_A->C 16 89874559 89874559 A C snp 788.77 1/1 60 21 0 21 1.0 intronic rs11076627 FANCA AR NM_000135 exon38 c.69693-142A>C 0.594449 0.9821 Uncertain 16_89874628_C->T 16 89874628 89874628 C T snp 2547.77 1/1 99 101 0 101 1.0 intronic rs1800285 FANCA AR NM_000135 exon38 c.69693-73C>T 0.6873 0.9871 Uncertain 16_89877269_T->C 16 89877269 89877269 T C snp 1821.77 0/1 99 153 76 77 0.5 intronic rs2074963 FANCA AR NM_000135 exon39 c.72202+59T>C 0.077476 0.2817 Uncertain 16_89882807_G->T 16 89882807 89882807 G T snp 104.28 1/1 9 5 0 5 1.0 intronic rs78004870 FANCA AR NM_000135 exon43 c.77936-137G>T 0.573682 0.9821 1 . Uncertain 16_89882826_C->T 16 89882826 89882826 C T snp 102.28 1/1 9 5 0 5 1.0 intronic rs72631431 FANCA AR NM_000135 exon43 c.77936-118C>T 0.573682 0.9821 0.7 . Uncertain 16_89902482_T->C 16 89902482 89902482 T C snp 599.77 1/1 45 16 0 16 1.0 intronic rs12598477 SPIRE2 AU NM_032451 exon1 c.244+7280T>C 0.78095 0.9881 Uncertain 16_89912000_C->T 16 89912000 89912000 C T snp 1892.77 0/1 99 140 56 84 0.6 intronic rs62056069 SPIRE2 AU NM_032451 exon2 c.16815+227C>T 0.0740815 0.2669 0.0415 0.3263 Uncertain 16_89912063_T->C 16 89912063 89912063 T C snp 745.77 0/1 99 87 54 33 0.38 intronic rs13331995 SPIRE2 AU NM_032451 exon2 c.16815+290T>C 0.589657 0.7212 0.4308 0.6839 Uncertain 16_89916391_G->A 16 89916391 89916391 G A snp 80.77 0/1 28 4 1 3 0.75 intronic rs12932219 SPIRE2 AU NM_032451 exon3 c.21753-320G>A 0.39397 0.374 Uncertain 16_89916600_C->A 16 89916600 89916600 C A snp 2050.77 0/1 99 130 45 85 0.65 intronic rs12598316 SPIRE2 AU NM_032451 exon3 c.21753-111C>A 0.0734824 0.2579 0.0553 0.3473 Uncertain 16_89916879_-->GAG 16 89916879 89916879 - GAG indel 5652.73 0/1 99 248 106 142 0.57 exonic rs146569219 SPIRE2 AU nonframeshift insertion NM_032451 exon3 c.456_457insGAG p.P152delinsPE 0.0740815 0.2679 0.1208 0.2941 ID=COSM1380574;OCCURENCE=3(large_intestine) Uncertain 16_89920957_A->G 16 89920957 89920957 A G snp 1732.77 0/1 99 164 91 73 0.45 exonic rs12598737 SPIRE2 AU synonymous SNV NM_032451 exon5 c.A789G p.Q263Q 0.0754792 0.2708 0.060450 0.0704 0.2390 Uncertain 16_89921119_A->C 16 89921119 89921119 A C snp 239.77 0/1 99 28 17 11 0.39 intronic rs12598756 SPIRE2 AU NM_032451 exon5 c.26101+60A>C 0.154353 0.252 Uncertain 16_89921126_T->G 16 89921126 89921126 T G snp 175.77 0/1 99 23 15 8 0.35 intronic rs12599205 SPIRE2 AU NM_032451 exon5 c.26101+67T>G 0.17492 0.2728 Uncertain 16_89921128_A->G 16 89921128 89921128 A G snp 173.77 0/1 99 23 15 8 0.35 intronic rs12598757 SPIRE2 AU NM_032451 exon5 c.26101+69A>G 0.17492 0.2728 Uncertain 16_89922485_T->C 16 89922485 89922485 T C snp 783.77 0/1 99 93 57 36 0.39 intronic rs1105691 SPIRE2 AU NM_032451 exon7 c.27562-35T>C 0.124201 0.3006 0.125771 0.1161 0.2271 Uncertain 16_89925556_G->A 16 89925556 89925556 G A snp 1850.77 0/1 99 153 70 83 0.54 intronic rs7200842 SPIRE2 AU NM_032451 exon9 c.30614-16G>A 0.641773 0.7123 0.551485 0.5993 0.7367 Uncertain 16_89927265_C->T 16 89927265 89927265 C T snp 336.77 0/1 99 27 15 12 0.44 intronic rs11641897 SPIRE2 AU NM_032451 exon10 c.32245+62C>T 0.0780751 0.2847 Uncertain 16_89930087_T->A 16 89930087 89930087 T A snp 1289.77 0/1 99 90 40 50 0.56 intronic rs62056090 SPIRE2 AU NM_032451 exon11 c.35060+69T>A 0.13119 0.2827 Uncertain 16_89930129_G->C 16 89930129 89930129 G C snp 882.77 0/1 99 78 44 34 0.44 intronic rs55999134 SPIRE2 AU NM_032451 exon12 c.35243-72G>C 0.282748 0.6141 Uncertain 16_89930325_G->A 16 89930325 89930325 G A snp 986.77 0/1 99 74 33 41 0.55 intronic rs78659316 SPIRE2 AU NM_032451 exon12 c.35311+56G>A 0.0327476 0.1597 Uncertain 16_89930414_G->A 16 89930414 89930414 G A snp 264.77 0/1 99 16 7 9 0.56 intronic rs62056091 SPIRE2 AU NM_032451 exon12 c.35311+145G>A 0.077476 0.2827 Uncertain 16_89930426_A->G 16 89930426 89930426 A G snp 192.77 0/1 61 10 4 6 0.6 intronic rs62056092 SPIRE2 AU NM_032451 exon12 c.35311+157A>G 0.131589 0.2827 Uncertain 16_89950901_G->A 16 89950901 89950901 G A snp 249.77 0/1 99 19 9 10 0.53 intronic rs62052174 TCF25 AU NM_014972 exon3 c.10914-88G>A 0.10603 0.2907 Uncertain 16_89952397_C->T 16 89952397 89952397 C T snp 670.77 0/1 99 86 59 27 0.31 intronic rs79441750 TCF25 AU NM_014972 exon4 c.12299+23C>T 0.177915 0.2788 0.125038 0.1186 0.2355 Uncertain 16_89954138_G->C 16 89954138 89954138 G C snp 1423.77 0/1 99 148 83 65 0.44 intronic rs9922515 TCF25 AU NM_014972 exon5 c.14050+13G>C 0.282748 0.2897 0.234534 0.1582 0.2658 Uncertain 16_89958538_G->A 16 89958538 89958538 G A snp 1747.77 0/1 99 155 80 75 0.48 intronic rs11647174 TCF25 AU NM_014972 exon6 c.18525-62G>A 0.0792732 0.2867 Uncertain 16_89961593_A->G 16 89961593 89961593 A G snp 857.77 0/1 99 94 56 38 0.4 intronic rs7186976 TCF25 AU NM_014972 exon8 c.21470+48A>G 0.179513 0.2887 0.109486 0.1129 0.2382 Uncertain 16_89961597_T->C 16 89961597 89961597 T C snp 819.77 0/1 99 92 54 38 0.41 intronic rs7191836 TCF25 AU NM_014972 exon8 c.21470+52T>C 0.179113 0.2887 0.112290 0.1082 0.2292 Uncertain 16_89961661_G->A 16 89961661 89961661 G A snp 425.77 0/1 99 40 23 17 0.42 intronic rs7184960 TCF25 AU NM_014972 exon8 c.21470+116G>A 0.179113 0.2887 Uncertain 16_89962394_A->G 16 89962394 89962394 A G snp 2680.77 0/1 99 237 120 117 0.49 splicing rs2293586 TCF25 AU NM_014972 exon9 c.22322-3A>G 0.286142 0.2887 0.240188 0.1583 0.2638 Pathogenic 16_89962635_C->A 16 89962635 89962635 C A snp 208.77 0/1 99 11 4 7 0.64 intronic rs75110337 TCF25 AU NM_014972 exon9 c.22416+144C>A 0.102835 0.2887 Uncertain 16_89965055_G->A 16 89965055 89965055 G A snp 2489.77 0/1 99 229 126 103 0.45 exonic rs11648433 TCF25 AU synonymous SNV NM_014972 exon10 c.G1113A p.L371L 0.0784744 0.2837 0.064251 0.0758 0.2637 Uncertain 16_89966921_C->A 16 89966921 89966921 C A snp 411.77 0/1 99 26 11 15 0.58 intronic rs62052183 TCF25 AU NM_014972 exon12 c.26967-121C>A 0.103035 0.2887 Uncertain 16_89967217_T->C 16 89967217 89967217 T C snp 537.77 0/1 99 64 42 22 0.34 intronic rs62052184 TCF25 AU NM_014972 exon12 c.27127+15T>C 0.228634 0.2887 0.175746 0.1415 0.2631 Uncertain 16_89970753_-->T 16 89970753 89970753 - T indel 513.73 0/1 99 48 21 27 0.56 intronic rs398078824 TCF25 AU NM_014972 exon13 c.30538+140insT 0.187899 0.2887 Uncertain 16_89972532_A->C 16 89972532 89972532 A C snp 397.77 0/1 99 28 9 19 0.68 intronic rs11862382 TCF25 AU NM_014972 exon15 c.32526-69A>C 0.291134 0.2887 Uncertain 16_89973795_C->T 16 89973795 89973795 C T snp 184.77 0/1 99 16 8 8 0.5 intronic rs548751922 TCF25 AU NM_014972 exon16 c.33655+65C>T 0.155351 0.2877 Uncertain 16_89973796_A->G 16 89973796 89973796 A G snp 392.89 1/1 2 16 3 13 0.81 intronic rs111916961 TCF25 AU NM_014972 exon16 c.33655+66A>G 0.476238 0.4802 Uncertain 16_89973812_C->T 16 89973812 89973812 C T snp 387.77 1/1 30 11 1 10 0.91 intronic rs570426774 TCF25 AU NM_014972 exon16 c.33655+82C>T 0.458067 0.4841 Uncertain 16_89973816_A->C 16 89973816 89973816 A C snp 371.77 1/1 30 10 0 10 1.0 intronic rs190789120 TCF25 AU NM_014972 exon16 c.33655+86A>C 0.928315 0.9643 Uncertain 16_89973821_T->C 16 89973821 89973821 T C snp 267.8 1/1 21 7 0 7 1.0 intronic rs568341410 TCF25 AU NM_014972 exon16 c.33655+91T>C 0.909744 0.9554 Uncertain 16_89973832_G->C 16 89973832 89973832 G C snp 133.03 1/1 12 4 0 4 1.0 intronic rs12927596 TCF25 AU NM_014972 exon16 c.33655+102G>C Uncertain 16_89975496_G->A 16 89975496 89975496 G A snp 1163.77 0/1 99 114 61 53 0.46 intronic rs57940434 TCF25 AU NM_014972 exon17 c.36923-1502G>A 0.156949 0.2877 0.0994 0.2921 Uncertain 16_89975555_G->C 16 89975555 89975555 G C snp 489.77 0/1 99 45 25 20 0.44 intronic rs62052189 TCF25 AU NM_014972 exon17 c.36923-1443G>C 0.156949 0.2877 0.1 0.29 Uncertain 16_89975572_A->G 16 89975572 89975572 A G snp 368.77 0/1 99 34 19 15 0.44 intronic rs57492102 TCF25 AU NM_014972 exon17 c.36923-1426A>G 0.156949 0.2877 Uncertain 16_89975638_A->G 16 89975638 89975638 A G snp 112.77 0/1 99 9 4 5 0.56 intronic rs1137042 TCF25 AU NM_014972 exon17 c.36923-1360A>G 0.294529 0.2877 Uncertain 16_89981303_G->T 16 89981303 89981303 G T snp 298.77 0/1 99 43 30 13 0.3 intergenic rs9796835 TCF25 AU 0.483626 0.623 Uncertain 16_89981345_-->TG 16 89981345 89981345 - TG indel 3512.73 ./1 99 99 4 95 0.96 intergenic rs397954270 TCF25 AU 0.497005 0.5099 Uncertain 16_89981346_TG->- 16 89981346 89981347 TG - indel 3512.73 ./1 99 99 4 95 0.96 intergenic rs576597378 TCF25 AU 0.151757 0.2837 Uncertain 16_89985940_G->A 16 89985940 89985940 G A snp 3300.77 0/1 99 250 123 127 0.51 exonic rs2228479 MC1R AU,AR nonsynonymous SNV NM_002386 exon1 c.G274A p.V92M 0.0796725 0.2887 0.063311 0.0764 0.2712 0.054 P -0.923 T 0.015 T 0.034 T CLINSIG=other|other;CLNDBN=Skin/hair/eye_pigmentation_2\x2c_red_hair/fair_skin|Skin/hair/eye_pigmentation_2\x2c_blond_hair/fair_skin;CLNREVSTAT=no_assertion_criteria_provided|no_assertion_criteria_provided;CLNACC=RCV000015378.25|RCV000015379.25;CLNDSDB=.|.;CLNDSDBID=.|. ID=CM014730;DIS=Ephelides, increased risk, association with;TAG=DFP;PUB=11487574 DFP Pathogenic 16_89986154_G->A 16 89986154 89986154 G A snp 3428.77 0/1 99 250 116 134 0.54 exonic rs885479 MC1R AU,AR nonsynonymous SNV NM_002386 exon1 c.G488A p.R163Q 0.191294 0.6161 0.037068 0.1358 0.6442 0.0 P -0.918 T 0.004 T 0.013 T ID=CM014731;DIS=Ephelides, increased risk, association with;TAG=DFP;PUB=11487574 DFP Pathogenic 16_89986608_A->G 16 89986608 89986608 A G snp 2864.77 0/1 99 234 126 108 0.46 exonic rs2228478 MC1R AU,AR synonymous SNV NM_002386 exon1 c.A942G p.T314T 0.258986 0.2927 0.208104 0.1502 0.2721 Uncertain 16_89987201_A->G 16 89987201 89987201 A G snp 1267.77 0/1 99 109 57 52 0.48 UTR3 rs3212371 MC1R AU,AR 0.214457 0.2917 0.1930 0.3148 Uncertain 16_89998157_G->A 16 89998157 89998157 G A snp 1432.77 0/1 99 141 77 64 0.45 intronic rs62052214 TUBB3 AD NM_006086 exon2 c.9169-821G>A 0.0728834 0.2837 Uncertain 16_89999668_G->A 16 89999668 89999668 G A snp 812.77 0/1 99 91 51 40 0.44 intronic rs550985703 TUBB3 AD NM_006086 exon3 c.10066-207G>A 0.00179712 0.006 0.0005 0.01 Uncertain 16_90000925_T->C 16 90000925 90000925 T C snp 2269.77 1/1 99 75 0 75 1.0 intronic rs4396536 TUBB3 AD NM_001197181 exon4 c.1211-211T>C 0.995208 1 0.9940 1 Uncertain 16_90002290_T->C 16 90002290 90002290 T C snp 892.77 1/1 66 27 0 27 1.0 UTR3 rs1135425 TUBB3 AD 0.732029 0.9127 Uncertain 16_90004868_C->T 16 90004868 90004868 C T snp 1411.77 0/1 99 109 56 53 0.49 intergenic rs56378598 TUBB3 AD 0.359225 0.6022 Uncertain 16_90015027_G->A 16 90015027 90015027 G A snp 196.77 0/1 99 17 7 10 0.59 upstream rs77901106 DEF8 AU 0.145168 0.2738 Uncertain 16_90015153_T->G 16 90015153 90015153 T G snp 255.77 0/1 99 39 25 14 0.36 UTR5 rs139533955 DEF8 AU 0.0716853 0.2698 Uncertain 16_90015201_A->G 16 90015201 90015201 A G snp 217.77 0/1 99 28 18 10 0.36 UTR5 rs144195940 DEF8 AU 0.0744808 0.2698 0 . Uncertain 16_90020861_C->T 16 90020861 90020861 C T snp 622.77 1/1 48 21 0 21 1.0 intronic rs7195043 DEF8 AU NM_001242821 exon2 c.124+77C>T 0.673522 0.8294 Uncertain 16_90021569_T->C 16 90021569 90021569 T C snp 1207.77 0/1 99 72 31 41 0.57 intronic rs62052225 DEF8 AU NM_001242821 exon3 c.916-7T>C 0.101837 0.2629 0.072869 0.0686 0.2508 Uncertain 16_90021685_A->G 16 90021685 90021685 A G snp 3682.77 0/1 99 249 101 148 0.59 intronic rs12597913 DEF8 AU NM_001242821 exon3 c.1014+11A>G 0.0950479 0.2728 0.064635 0.0660 0.2629 Uncertain 16_90023901_C->T 16 90023901 90023901 C T snp 1008.77 0/1 99 69 32 37 0.54 intronic rs12596872 DEF8 AU NM_001242821 exon4 c.3258-17C>T 0.215855 0.5417 0.084843 0.2664 0.6252 Uncertain 16_90024202_G->A 16 90024202 90024202 G A snp 80.77 0/1 69 5 2 3 0.6 intronic rs8049897 DEF8 AU NM_001242821 exon4 c.3408+134G>A 0.162939 0.2748 Uncertain 16_90024206_A->G 16 90024206 90024206 A G snp 41.77 0/1 70 4 2 2 0.5 intronic rs8051733 DEF8 AU NM_001242821 exon4 c.3408+138A>G 0.276558 0.2778 Uncertain 16_90025640_G->C 16 90025640 90025640 G C snp 1062.77 0/1 99 95 52 43 0.45 exonic rs8166 DEF8 AU nonsynonymous SNV NM_001242821 exon5 c.G591C p.M197I 0.121605 0.2688 0.081520 0.1095 0.2998 0.0 P -0.999 T 0.0 T 0.0 T Pathogenic 16_90027626_A->T 16 90027626 90027626 A T snp 456.77 0/1 99 37 19 18 0.49 intronic rs8063761 DEF8 AU NM_001242820 exon8 c.6843+123A>T 0.299121 0.2798 Uncertain 16_90030355_T->C 16 90030355 90030355 T C snp 546.77 0/1 99 81 50 31 0.38 intronic rs13330431 DEF8 AU NM_001242820 exon12 c.9917-222T>C 0.390575 0.2946 0.4812 0.3728 Uncertain 16_90030770_A->G 16 90030770 90030770 A G snp 712.77 0/1 99 88 51 37 0.42 intronic rs56219904 DEF8 AU NM_001242820 exon12 c.10058+52A>G 0.229633 0.5536 0.094051 0.1864 0.5584 Uncertain 16_90037828_G->A 16 90037828 90037828 G A snp 6036.77 1/1 99 207 0 207 1.0 exonic rs4785755 CENPBD1 AU nonsynonymous SNV NM_145039 exon1 c.C503T p.T168I 0.681909 0.7093 0.666197 0.7047 0.6939 0.18 T 0.0 P -1.037 T 0.277 T 0.03 T Pathogenic 16_90050880_A->C 16 90050880 90050880 A C snp 838.77 0/1 99 70 32 38 0.54 ncRNA_intronic rs4785759 AFG3L1P AU 0.406749 0.1815 0.485983 Uncertain 16_90075100_C->G 16 90075100 90075100 C G snp 34.77 0/1 63 8 6 2 0.25 intronic rs11642185 DBNDD1 AU NM_024043 exon2 c.2449-91C>G 0.286342 0.1558 Uncertain 16_90075412_T->C 16 90075412 90075412 T C snp 424.77 0/1 99 24 9 15 0.63 intronic rs2241084 DBNDD1 AU NM_024043 exon2 c.2590+80T>C 0.747804 0.3244 Uncertain 16_90085787_G->C 16 90085787 90085787 G C snp 93.77 0/1 30 7 1 6 0.86 UTR5 rs11076656 DBNDD1 AU 0.234225 0.6409 0 . Uncertain 16_90086314_T->G 16 90086314 90086314 T G snp 53.77 0/1 82 48 39 9 0.19 exonic DBNDD1 AU synonymous SNV NM_001288709 exon1 c.A213C p.P71P Uncertain 16_90089335_C->T 16 90089335 90089335 C T snp 130.78 0/1 25 8 1 7 0.88 intronic rs59443037 GAS8 AR NM_001481 exon1 c.3+203C>T 0.246006 0.63 Uncertain 16_90093969_T->C 16 90093969 90093969 T C snp 2641.77 1/1 99 93 0 93 1.0 intronic rs3743829 GAS8 AR NM_001481 exon2 c.4914-74T>C 0.643371 0.9444 Uncertain 16_90094169_G->A 16 90094169 90094169 G A snp 727.77 0/1 99 66 39 27 0.41 intronic rs3743828 GAS8 AR NM_001481 exon2 c.5001+39G>A 0.235024 0.625 0.090580 0.1787 0.6392 Uncertain 16_90094195_A->G 16 90094195 90094195 A G snp 1374.77 1/1 99 36 0 36 1.0 intronic rs3743827 GAS8 AR NM_001481 exon2 c.5001+65A>G 0.589257 0.7927 Uncertain 16_90094214_C->T 16 90094214 90094214 C T snp 219.77 0/1 99 15 8 7 0.47 intronic rs3743826 GAS8 AR NM_001481 exon2 c.5001+84C>T 0.243011 0.1677 Uncertain 16_90095277_T->A 16 90095277 90095277 T A snp 627.77 1/1 48 16 0 16 1.0 intronic rs7191175 GAS8 AR NM_001481 exon2 c.5001+1147T>A 0.639377 0.9444 Uncertain 16_90095484_C->T 16 90095484 90095484 C T snp 2395.77 0/1 99 193 93 100 0.52 ncRNA_exonic rs3785184 GAS8-AS1 AU 0.234824 0.62 0.080632 0.1248 0.6207 Uncertain 16_90095561_C->T 16 90095561 90095561 C T snp 1098.77 0/1 99 108 61 47 0.44 ncRNA_exonic rs3785183 GAS8-AS1 AU 0.33107 0.1687 0.3130 0.1305 0.0 P -0.922 T 0.13 T 0.003 T Uncertain 16_90095597_-->GGGGCAGCCTACGGGGCAGGCTGC 16 90095597 90095597 - GGGGCAGCCTACGGGGCAGGCTGC indel 12934.7 1/1 99 85 0 85 1.0 ncRNA_exonic rs71137702 GAS8-AS1 AU 0.4415 0.7760 Uncertain 16_90097544_C->T 16 90097544 90097544 C T snp 2365.77 0/1 99 156 59 97 0.62 intronic rs4608335 GAS8 AR NM_001481 exon3 c.8577-162C>T 0.254393 0.627 0.2038 0.6849 Uncertain 16_90097748_C->T 16 90097748 90097748 C T snp 1991.77 0/1 99 142 64 78 0.55 exonic rs2302513 GAS8 AR synonymous SNV NM_001481 exon3 c.C132T p.R44R 0.248403 0.627 0.103955 0.1836 0.6404 Uncertain 16_90097979_A->G 16 90097979 90097979 A G snp 299.78 1/1 24 9 0 9 1.0 intronic rs868371 GAS8 AR NM_001481 exon3 c.8775+75A>G 0.670927 0.9921 Uncertain 16_90097995_G->C 16 90097995 90097995 G C snp 43.77 0/1 72 5 3 2 0.4 intronic rs868372 GAS8 AR NM_001481 exon3 c.8775+91G>C 0.258187 0.1667 Uncertain 16_90099061_C->T 16 90099061 90099061 C T snp 3391.77 1/1 99 108 0 108 1.0 intronic rs4324129 GAS8 AR NM_001481 exon4 c.9996-64C>T 0.532149 0.7937 Uncertain 16_90099348_G->A 16 90099348 90099348 G A snp 557.77 0/1 99 37 17 20 0.54 intronic rs3785182 GAS8 AR NM_001481 exon4 c.10203+16G>A 0.248802 0.625 0.103233 0.1966 0.6389 Uncertain 16_90104019_G->A 16 90104019 90104019 G A snp 255.77 0/1 99 31 22 9 0.29 intronic rs2241036 GAS8 AR NM_001481 exon8 c.15040-150G>A 0.363618 0.1577 Uncertain 16_90109519_G->A 16 90109519 90109519 G A snp 1250.77 0/1 99 92 44 48 0.52 ncRNA_exonic rs2241032 URAHP AU 0.267173 0.622 Uncertain 16_90109711_A->G 16 90109711 90109711 A G snp 1384.77 0/1 99 149 85 64 0.43 exonic rs3743825 GAS8 AR synonymous SNV NM_001481 exon11 c.A1395G p.T465T 0.844249 0.8472 0.829178 0.7945 0.8181 Uncertain 16_90109756_-->C 16 90109756 90109756 - C indel 636.73 0/1 99 79 43 36 0.46 ncRNA_exonic rs3833069 URAHP AU 0.48742 0.6379 0.364951 0.3686 0.6529 Uncertain 16_90110027_G->A 16 90110027 90110027 G A snp 843.77 0/1 99 73 37 36 0.49 ncRNA_exonic rs3743824 URAHP AU 0.578075 0.8224 0.4783 0.8404 0.000 P -1.010 T 0.0 T 0.0 T Uncertain 16_90110284_G->A 16 90110284 90110284 G A snp 1938.77 0/1 99 170 89 81 0.48 ncRNA_exonic rs3743821 URAHP AU 0.221246 0.6042 0.1425 0.5962 Uncertain 16_90110289_C->A 16 90110289 90110289 C A snp 1789.77 0/1 99 166 86 80 0.48 ncRNA_exonic rs1048148 URAHP AU 0.58127 0.8244 0.4339 0.8174 0.0 P -1.019 T 0.0 T 0.0 T Uncertain 16_90110737_A->G 16 90110737 90110737 A G snp 1575.77 0/1 99 122 56 66 0.54 ncRNA_intronic rs3743817 URAHP AU 0.228435 0.6032 Uncertain 16_90127080_C->T 16 90127080 90127080 C T snp 4933.77 1/1 99 175 0 175 1.0 intronic rs3826200 PRDM7 AU NM_001098173 exon2 c.2335+49C>T 0.257388 0.5952 0.110205 0.1720 0.6016 Uncertain 16_90129970_C->A 16 90129970 90129970 C A snp 34.77 0/1 63 7 5 2 0.29 intronic rs4493039 PRDM7 AU NM_001098173 exon6 c.5323-49C>A 0.30631 0.7718 0.152313 0.2221 0.7462 Uncertain 16_90130136_C->T 16 90130136 90130136 C T snp 1476.77 0/1 99 111 47 64 0.58 exonic rs2078478 PRDM7 AU nonsynonymous SNV NM_001098173 exon5 c.G392A p.R131K 0.28754 0.7798 0.137810 0.2186 0.7553 0.000 P -1.052 T 0.0 T 0.0 T Pathogenic 16_90133035_T->G 16 90133035 90133035 T G snp 172.9 1/1 15 5 0 5 1.0 intronic rs12445466 PRDM7 AU NM_001098173 exon7 c.8572-233T>G 0.688698 0.8185 Uncertain 16_90133137_G->T 16 90133137 90133137 G T snp 4783.77 1/1 99 165 0 165 1.0 intronic rs16966444 PRDM7 AU NM_001098173 exon7 c.8572-131G>T 0.806709 0.996 Uncertain 16_90141355_A->C 16 90141355 90141355 A C snp 994.77 0/1 99 103 56 47 0.46 exonic rs12925933 PRDM7 AU nonsynonymous SNV NM_001098173 exon3 c.T270G p.D90E 0.390575 0.1905 0.542090 0.5567 0.2051 0.000 P -0.958 T 0.999 D 0.991 D Pathogenic 16_90141477_T->G 16 90141477 90141477 T G snp 1454.77 1/1 99 50 0 50 1.0 intronic rs7196459 PRDM7 AU NM_001098173 exon8 c.16735+46T>G 0.980431 1 0.940182 0.9436 1 Uncertain 16_90142087_G->A 16 90142087 90142087 G A snp 2204.77 0/1 99 199 110 89 0.45 intronic rs35256427 PRDM7 AU NM_001098173 exon10 c.17553-162G>A 0.385982 0.1885 Uncertain 16_90161034_C->A 16 90161034 90161034 C A snp 413.77 0/1 99 20 7 13 0.65 intergenic rs9935835 PRDM7 AU 0.233227 0.5972 0.1579 0.6033 Uncertain 16_90161065_A->T 16 90161065 90161065 A T snp 681.77 0/1 99 44 18 26 0.59 intergenic rs8051193 PRDM7 AU 0.5382 0.6477 Uncertain 16_90161231_T->C 16 90161231 90161231 T C snp 671.77 0/1 99 61 30 31 0.51 intergenic rs8055916 PRDM7 AU 0.285743 0.6141 0.2207 0.6197 Uncertain 17_6115_G->C 17 6115 6115 G C snp 5704.77 1/1 99 213 0 213 1.0 exonic DOC2B AU synonymous SNV NM_003585 exon6 c.C819G p.S273S 0.724441 0.8591 0.687473 0.7321 0.8623 Uncertain 17_6157_A->G 17 6157 6157 A G snp 3814.77 1/1 99 136 0 136 1.0 exonic DOC2B AU synonymous SNV NM_003585 exon6 c.T777C p.T259T 0.735224 0.8591 0.697766 0.7363 0.8614 Uncertain 17_11743_A->G 17 11743 11743 A G snp 224.84 1/1 18 6 0 6 1.0 intronic DOC2B AU NM_003585 exon3 c.5861-128A>G 0.785743 0.8591 Uncertain 17_11830_A->G 17 11830 11830 A G snp 643.77 1/1 48 19 0 19 1.0 intronic DOC2B AU NM_003585 exon3 c.5861-41A>G 0.823283 0.8581 0.819974 0.8293 0.8613 Uncertain 17_11837_G->A 17 11837 11837 G A snp 296.77 0/1 99 22 10 12 0.55 intronic DOC2B AU NM_003585 exon3 c.5861-34G>A 0.113419 0.2808 0.003942 0.0699 0.2669 Uncertain 17_11843_G->A 17 11843 11843 G A snp 291.77 0/1 99 24 13 11 0.46 intronic DOC2B AU NM_003585 exon3 c.5861-28G>A 0.113419 0.2808 0.004161 0.0698 0.2669 Uncertain 17_13905_G->A 17 13905 13905 G A snp 2555.77 1/1 99 91 0 91 1.0 intronic DOC2B AU NM_003585 exon4 c.7910-15G>A 0.747005 0.8522 0.728647 0.7693 0.8578 Uncertain 17_14008_G->C 17 14008 14008 G C snp 2836.77 1/1 99 101 0 101 1.0 intronic DOC2B AU NM_003585 exon4 c.7985+13G>C 0.806909 0.8571 0.810994 0.8250 0.8655 Uncertain 17_22211_G->A 17 22211 22211 G A snp 256.8 1/1 21 7 0 7 1.0 intronic DOC2B AU NM_003585 exon5 c.16317-116G>A 0.729832 0.8571 Uncertain 17_65632_C->T 17 65632 65632 C T snp 270.8 1/1 21 10 0 10 1.0 intronic RPH3AL AU NM_006987 exon2 c.1951+39C>T 0.51877 0.5208 0.375308 0.4682 0.5795 Uncertain 17_131709_A->G 17 131709 131709 A G snp 1893.77 1/1 99 72 0 72 1.0 intronic RPH3AL AU NM_006987 exon5 c.68003+64A>G 0.482428 0.7867 Uncertain 17_131756_T->G 17 131756 131756 T G snp 942.77 1/1 69 32 0 32 1.0 intronic RPH3AL AU NM_006987 exon5 c.68003+111T>G 0.437899 0.7629 Uncertain 17_169399_T->C 17 169399 169399 T C snp 251.77 0/1 99 28 16 12 0.43 intronic rs11654845 RPH3AL AU NM_006987 exon6 c.105698+59T>C 0.262979 0.1042 Uncertain 17_181474_T->C 17 181474 181474 T C snp 3565.77 1/1 99 136 0 136 1.0 exonic LOC100506388 AU synonymous SNV NM_001242780 exon1 c.T126C p.H42H 0.842452 0.9444 0.8773 0.9324 Uncertain 17_181479_C->A 17 181479 181479 C A snp 1570.77 0/1 99 136 63 73 0.54 exonic LOC100506388 AU nonsynonymous SNV NM_001242780 exon1 c.C131A p.P44Q 0.274561 0.2351 0.2677 0.1757 Pathogenic 17_182727_T->A 17 182727 182727 T A snp 1017.77 0/1 99 88 42 46 0.52 intronic LOC100506388 AU NM_001242780 exon3 c.1498-119T>A 0.264177 0.4067 Uncertain 17_182956_T->G 17 182956 182956 T G snp 840.77 0/1 99 73 39 34 0.47 exonic LOC100506388 AU nonsynonymous SNV NM_001242780 exon3 c.T341G p.V114G 0.0880591 0.2887 0.0004 0 Pathogenic 17_182990_A->C 17 182990 182990 A C snp 856.77 1/1 66 25 0 25 1.0 exonic LOC100506388 AU nonsynonymous SNV NM_001242780 exon3 c.A375C p.E125D 0.709065 0.9137 0.0017 0.2 Pathogenic 17_260457_C->T 17 260457 260457 C T snp 908.77 0/1 99 77 38 39 0.51 intronic rs537734547 C17orf97 AU NM_001013672 exon1 c.304+20C>T 0.000399361 0.002 Uncertain 17_295777_C->T 17 295777 295777 C T snp 348.78 1/1 27 11 0 11 1.0 upstream FAM101B AU 0.363419 0.5119 0.142105 0.2213 0.5038 Uncertain 17_422896_G->A 17 422896 422896 G A snp 154.77 0/1 99 11 4 7 0.64 intronic rs2034087 VPS53 AR NM_001128159 exon2 c.698-169G>A 0.253195 0.3006 Uncertain 17_423051_T->C 17 423051 423051 T C snp 1075.77 0/1 99 102 52 50 0.49 intronic rs2034088 VPS53 AR NM_001128159 exon2 c.698-14T>C 0.726637 0.8155 0.620675 0.6120 0.8521 Uncertain 17_440108_A->C 17 440108 440108 A C snp 503.77 0/1 73 18 3 15 0.83 intronic rs11653961 VPS53 AR NM_001128159 exon5 c.17900-159A>C 0.722644 0.8135 Uncertain 17_455451_C->A 17 455451 455451 C A snp 52.74 1/1 6 2 0 2 1.0 intronic rs9905044 VPS53 AR NM_001128159 exon6 c.32823+261C>A 0.622204 0.7669 Uncertain 17_463843_A->G 17 463843 463843 A G snp 606.77 0/1 99 68 42 26 0.38 intronic rs741677 VPS53 AR NM_001128159 exon8 c.41446+30A>G 0.511981 0.2808 0.524604 0.4587 0.2855 Uncertain 17_465775_G->A 17 465775 465775 G A snp 1413.77 0/1 99 121 56 65 0.54 exonic rs2075443 VPS53 AR synonymous SNV NM_001128159 exon14 c.C1524T p.Y508Y 0.348642 0.2163 0.334230 0.2784 0.1963 Uncertain 17_505162_A->G 17 505162 505162 A G snp 2231.77 1/1 99 80 0 80 1.0 intronic rs4968055 VPS53 AR NM_001128159 exon11 c.82769+26A>G 0.957867 0.9831 0.959480 0.9735 0.9825 Uncertain 17_505250_A->G 17 505250 505250 A G snp 958.77 1/1 69 30 0 30 1.0 intronic rs4968092 VPS53 AR NM_001128159 exon11 c.82769+114A>G 0.884185 0.9464 Uncertain 17_505310_C->A 17 505310 505310 C A snp 80.77 0/1 99 6 3 3 0.5 intronic rs12450945 VPS53 AR NM_001128159 exon11 c.82769+174C>A 0.230032 0.3482 Uncertain 17_530339_T->C 17 530339 530339 T C snp 922.77 0/1 99 84 46 38 0.45 intronic rs16954064 VPS53 AR NM_001128159 exon13 c.108046-74T>C 0.368411 0.2103 Uncertain 17_600502_C->T 17 600502 600502 C T snp 606.77 0/1 99 44 21 23 0.52 intronic rs2657633 VPS53 AR NM_001128159 exon19 c.178290-155C>T 0.311102 0.119 Uncertain 17_600663_G->A 17 600663 600663 G A snp 2858.77 0/1 99 250 116 134 0.54 exonic rs201414500 VPS53 AR nonsynonymous SNV NM_001128159 exon4 c.C280T p.R94W 0.0001 0.0006 0 D 1 D -0.734 T 1.0 D 0.978 D Pathogenic 17_600735_A->G 17 600735 600735 A G snp 1658.77 0/1 99 166 94 72 0.43 intronic rs4968100 VPS53 AR NM_001128159 exon19 c.178357+11A>G 0.221046 0.2123 0.188144 0.1863 0.1933 Uncertain 17_602469_G->C 17 602469 602469 G C snp 359.77 0/1 99 24 11 13 0.54 intronic rs2543781 VPS53 AR NM_001128159 exon20 c.180203-101G>C 0.313099 0.121 Uncertain 17_618039_G->A 17 618039 618039 G A snp 508.77 0/1 99 36 19 17 0.47 UTR5 rs2474694 VPS53 AR 0.512979 0.621 Uncertain 17_618100_C->G 17 618100 618100 C G snp 141.77 0/1 99 10 5 5 0.5 upstream rs2955626 VPS53 AR 0.667532 0.876 Uncertain 17_636266_-->GGGCC 17 636266 636266 - GGGCC indel 2867.73 1/1 99 45 0 45 1.0 intronic rs141977343 FAM57A AU NM_024792 exon2 c.450-71insGGGCC 0.486821 0.6022 0.5126 0.6236 Uncertain 17_636320_-->CTC 17 636320 636320 - CTC indel 2688.73 0/1 99 103 50 53 0.51 intronic rs111405529 FAM57A AU NM_024792 exon2 c.450-17insCTC 0.452077 0.2718 0.517752 0.6072 0.4337 Uncertain 17_648157_G->A 17 648157 648157 G A snp 517.77 0/1 99 49 27 22 0.45 exonic rs1045481 GEMIN4 AU synonymous SNV NM_015721 exon2 c.C3126T p.I1042I 0.158546 0.122 0.199106 0.2118 0.1172 Uncertain 17_648186_G->A 17 648186 648186 G A snp 823.77 0/1 99 72 35 37 0.51 exonic rs7813 GEMIN4 AU nonsynonymous SNV NM_015721 exon2 c.C3097T p.R1033C 0.707069 0.7232 0.651108 0.6245 0.7015 0.01 T 1.0 P -1.158 T 0.995 D 0.528 D ID=CM086125;DIS=Renal cell carcinoma, reduced risk, association with;TAG=DP;PUB=19047128 DP Pathogenic 17_648498_C->T 17 648498 648498 C T snp 3918.77 1/1 99 143 1 142 0.99 exonic rs2740349 GEMIN4 AU nonsynonymous SNV NM_015721 exon2 c.G2785A p.D929N 0.892173 0.8899 0.866788 0.8479 0.8881 1 T 0.000 P -0.991 T 0.0 T 0.0 T ID=CM108927;DIS=Ovarian cancer, reduced risk, association with;TAG=DP;PUB=21118967 DP Pathogenic 17_649232_C->T 17 649232 649232 C T snp 523.77 0/1 99 60 37 23 0.38 exonic rs3744741 GEMIN4 AU nonsynonymous SNV NM_015721 exon2 c.G2051A p.R684Q 0.276957 0.3571 0.183557 0.1965 0.3292 0.57 T 0.0 P -0.923 T 0.371 T 0.046 T Pathogenic 17_649505_T->A 17 649505 649505 T A snp 2262.77 0/1 99 192 93 99 0.52 exonic rs4968104 GEMIN4 AU nonsynonymous SNV NM_015721 exon2 c.A1778T p.E593V 0.158746 0.122 0.200423 0.2081 0.1170 0.2 T 1.000 P -0.981 T 0.279 T 0.086 T Pathogenic 17_649547_G->C 17 649547 649547 G C snp 2466.77 0/1 99 205 110 95 0.46 exonic rs910925 GEMIN4 AU nonsynonymous SNV NM_015721 exon2 c.C1736G p.A579G 0.710064 0.7232 0.650024 0.6244 0.7013 0.03 T 1.0 P -1.080 T 1.0 D 0.997 D Pathogenic 17_649935_G->C 17 649935 649935 G C snp 6316.77 1/1 99 233 1 232 1.0 exonic rs2740348 GEMIN4 AU nonsynonymous SNV NM_015721 exon2 c.C1348G p.Q450E 0.893371 0.8899 0.867837 0.8477 0.8873 1 T 0.000 P -0.971 T 0.0 T 0.0 T ID=CM086127;DIS=Renal cell carcinoma, reduced risk, association with;TAG=DP;PUB=19047128 DP Pathogenic 17_650206_C->T 17 650206 650206 C T snp 2412.77 0/1 99 205 101 104 0.51 exonic rs3744742 GEMIN4 AU synonymous SNV NM_015721 exon2 c.G1077A p.A359A 0.143171 0.3909 0.058758 0.1083 0.3383 Uncertain 17_673895_C->G 17 673895 673895 C G snp 181.9 1/1 15 7 0 7 1.0 intronic rs2644706 GLOD4 AU NM_016080 exon4 c.10335+148C>G 0.897564 0.9028 Uncertain 17_680299_T->C 17 680299 680299 T C snp 957.77 0/1 99 57 23 34 0.6 intronic rs2273453 GLOD4 AU NM_016080 exon7 c.16816+71T>C 0.148562 0.0952 Uncertain 17_685640_G->T 17 685640 685640 G T snp 3074.77 0/1 99 250 120 130 0.52 exonic rs2273454 RNMTL1 AU nonsynonymous SNV NM_018146 exon1 c.G22T p.A8S 0.264177 0.505 0.169486 0.2467 0.4429 0.83 T 0.0 P -0.940 T 0.0 T 0.001 T Pathogenic 17_685752_G->A 17 685752 685752 G A snp 2420.77 0/1 99 245 139 106 0.43 exonic rs2249542 RNMTL1 AU nonsynonymous SNV NM_018146 exon1 c.G134A p.G45E 0.152356 0.0923 0.202368 0.2129 0.1021 1 T 0.963 P -1.066 T 0.261 T 0.042 T Pathogenic 17_686297_T->- 17 686297 686297 T - indel 128.73 0/1 50 10 3 7 0.7 intronic rs34512506 RNMTL1 AU NM_018146 exon2 c.704-25delT 0.684105 0.7718 0.6146 0.7108 Uncertain 17_686589_-->T 17 686589 686589 - T indel 358.73 1/1 51 28 0 28 1.0 intronic rs35144249 RNMTL1 AU NM_018146 exon2 c.949+22insT 0.552316 0.5347 0.5062 0.5155 Uncertain 17_704480_C->A 17 704480 704480 C A snp 44.77 0/1 66 5 2 3 0.6 intronic rs570710 NXN AU NM_022463 exon1 c.183+109C>A 0.704673 0.8452 Uncertain 17_706862_G->C 17 706862 706862 G C snp 367.77 0/1 99 63 44 19 0.3 intronic rs598974 NXN AU NM_022463 exon2 c.2733-59G>C 0.473243 0.3661 Uncertain 17_725433_C->T 17 725433 725433 C T snp 256.8 1/1 21 8 0 8 1.0 intronic rs503779 NXN AU NM_022463 exon5 c.21408-163C>T 0.465256 0.5149 Uncertain 17_767315_A->G 17 767315 767315 A G snp 221.77 0/1 99 248 181 67 0.27 intronic rs12952871 NXN AU NM_001205319 exon8 c.63163-36A>G 0.0067 0.0385 Uncertain 17_767316_G->T 17 767316 767316 G T snp 119.77 0/1 99 248 198 50 0.2 intronic rs12946389 NXN AU NM_001205319 exon8 c.63163-35G>T Uncertain 17_767362_A->G 17 767362 767362 A G snp 635.77 0/1 99 240 195 45 0.19 intronic rs615148 NXN AU NM_001205319 exon8 c.63163+11A>G 0.312101 0.2708 Uncertain 17_767363_C->G 17 767363 767363 C G snp 598.77 0/1 99 239 199 40 0.17 intronic rs615149 NXN AU NM_001205319 exon8 c.63163+12C>G 0.312101 0.2708 Uncertain 17_767377_G->A 17 767377 767377 G A snp 739.77 0/1 99 237 196 41 0.17 intronic rs523626 NXN AU NM_001205319 exon8 c.63163+26G>A Uncertain 17_767384_C->T 17 767384 767384 C T snp 1665.77 0/1 99 237 134 103 0.43 intronic rs2644709 NXN AU NM_001205319 exon8 c.63163+33C>T Uncertain 17_767388_G->A 17 767388 767388 G A snp 1417.77 0/1 99 237 141 96 0.41 intronic rs2644710 NXN AU NM_001205319 exon8 c.63163+37G>A Uncertain 17_767395_G->A 17 767395 767395 G A snp 911.77 0/1 99 225 171 54 0.24 intronic rs2644711 NXN AU NM_001205319 exon8 c.63163+44G>A Uncertain 17_767396_G->C 17 767396 767396 G C snp 895.77 0/1 99 223 165 58 0.26 intronic rs2644712 NXN AU NM_001205319 exon8 c.63163+45G>C Uncertain 17_799933_A->G 17 799933 799933 A G snp 2547.77 1/1 99 88 0 88 1.0 intronic rs2467248 NXN AU NM_001205319 exon8 c.63163+32582A>G 0.467252 0.3254 Uncertain 17_800106_C->T 17 800106 800106 C T snp 2183.77 0/1 99 160 65 95 0.59 intronic rs57694836 NXN AU NM_001205319 exon8 c.63163+32755C>T 0.0511182 0.1974 0.0263 0.25 Uncertain 17_902322_A->G 17 902322 902322 A G snp 463.78 0/1 0 14 1 13 0.93 intronic rs2586238 TIMM22 AU NM_013337 exon2 c.1833+107A>G 0.5627 0.4673 Uncertain 17_902598_T->C 17 902598 902598 T C snp 90.28 1/1 9 3 0 3 1.0 intronic rs3031663 TIMM22 AU NM_013337 exon3 c.2369-153T>C 0.483626 0.3294 Uncertain 17_902850_T->C 17 902850 902850 T C snp 1875.77 0/1 99 146 67 79 0.54 intronic rs78236085 TIMM22 AU NM_013337 exon3 c.2442+26T>C 0.0940495 0.2073 0.039982 0.0672 0.2228 Uncertain 17_915368_A->G 17 915368 915368 A G snp 4910.77 1/1 99 168 0 168 1.0 intronic rs333652 ABR AU NM_001159746 exon5 c.5906+143A>G 0.830871 0.7827 0.8600 0.8194 Uncertain 17_916466_C->T 17 916466 916466 C T snp 1048.77 0/1 99 99 53 46 0.46 intronic rs4968074 ABR AU NM_001159746 exon7 c.7085+62C>T 0.348243 0.4286 0.345379 Uncertain 17_925764_A->G 17 925764 925764 A G snp 549.77 0/1 99 62 40 22 0.35 ncRNA_exonic rs2663345 MIR3183 AU 0.503594 0.4067 0.5275 0.4783 Uncertain 17_953456_C->T 17 953456 953456 C T snp 1003.77 0/1 99 82 45 37 0.45 intronic rs2257540 ABR AU NM_001159746 exon8 c.44102+35C>T 0.498003 0.5149 0.541519 0.5757 0.4775 Uncertain 17_953737_T->C 17 953737 953737 T C snp 955.77 0/1 99 96 53 43 0.45 intronic rs2257222 ABR AU NM_001159746 exon9 c.44457-39T>C 0.342252 0.3313 0.358527 0.3409 0.3122 Uncertain 17_959515_A->G 17 959515 959515 A G snp 126.03 1/1 12 4 0 4 1.0 intronic rs2304958 ABR AU NM_001159746 exon10 c.50030+166A>G 0.779952 0.8532 Uncertain 17_960221_C->G 17 960221 960221 C G snp 4927.77 1/1 99 188 0 188 1.0 intronic rs2304959 ABR AU NM_001159746 exon11 c.50918-16C>G 0.721446 0.8502 0.653083 0.6875 0.8430 Uncertain 17_961149_T->A 17 961149 961149 T A snp 739.77 1/1 54 21 0 21 1.0 intronic rs9912632 ABR AU NM_001159746 exon12 c.51890-60T>A 0.721046 0.8502 0.656592 Uncertain 17_961304_C->A 17 961304 961304 C A snp 1099.77 1/1 78 41 0 41 1.0 intronic rs2260448 ABR AU NM_001159746 exon12 c.51966+19C>A 0.854034 0.9643 0.754959 0.8018 0.9624 Uncertain 17_961900_G->A 17 961900 961900 G A snp 222.84 1/1 18 6 0 6 1.0 intronic rs2304961 ABR AU NM_001159746 exon13 c.52665-84G>A 0.720647 0.8502 Uncertain 17_970251_T->C 17 970251 970251 T C snp 641.77 1/1 48 19 0 19 1.0 intronic rs2258097 ABR AU NM_001159746 exon14 c.60997-65T>C 0.896965 0.9683 Uncertain 17_970252_G->A 17 970252 970252 G A snp 594.77 1/1 45 19 0 19 1.0 intronic rs7216092 ABR AU NM_001159746 exon14 c.60997-64G>A 0.733826 0.8512 Uncertain 17_970413_C->T 17 970413 970413 C T snp 971.77 1/1 69 37 0 37 1.0 exonic rs2262150 ABR AU synonymous SNV NM_001282149 exon5 c.G432A p.E144E 0.896965 0.9683 0.865754 0.9130 0.9626 Uncertain 17_970561_G->A 17 970561 970561 G A snp 99.28 1/1 9 3 0 3 1.0 intronic rs3826527 ABR AU NM_001159746 exon14 c.61163+79G>A 0.733826 0.8512 Uncertain 17_976711_T->C 17 976711 976711 T C snp 833.77 0/1 99 70 37 33 0.47 intronic rs2258893 ABR AU NM_001159746 exon17 c.67545-153T>C 0.961262 0.9613 Uncertain 17_986742_A->G 17 986742 986742 A G snp 620.77 0/1 99 54 28 26 0.48 intronic rs2257468 ABR AU NM_001159746 exon19 c.77440-17A>G 0.461462 0.4881 0.393895 0.4281 0.5164 Uncertain 17_1083083_A->G 17 1083083 1083083 A G snp 371.77 0/1 99 95 76 19 0.2 UTR5 rs62070499 ABR AU 0.746805 0.4931 Uncertain 17_1183354_T->C 17 1183354 1183354 T C snp 6454.77 1/1 99 243 0 243 1.0 exonic rs6502774 TUSC5 AU nonsynonymous SNV NM_172367 exon1 c.T59C p.F20S 0.849042 0.8819 0.795447 0.7904 0.9076 0.36 T 0.000 P -0.988 T 0.0 T 0.0 T Pathogenic 17_1183464_A->G 17 1183464 1183464 A G snp 6928.77 1/1 99 249 0 249 1.0 exonic rs6502776 TUSC5 AU nonsynonymous SNV NM_172367 exon1 c.A169G p.S57G 0.780152 0.8671 0.742068 0.7738 0.9004 1 T 0.001 P -0.950 T 0.0 T 0.0 T Pathogenic 17_1265325_T->A 17 1265325 1265325 T A snp 256.77 0/1 99 29 17 12 0.41 intronic rs3752827 YWHAE AU NM_006761 exon4 c.16562+23T>A 0.36262 0.3681 0.284122 0.4142 0.4449 Uncertain 17_1359363_T->G 17 1359363 1359363 T G snp 1356.77 0/1 99 128 62 66 0.52 exonic rs2229075 CRK AU synonymous SNV NM_005206 exon1 c.A49C p.R17R 0.727835 0.5149 0.776786 0.7162 0.5492 Uncertain 17_1370459_T->C 17 1370459 1370459 T C snp 429.77 0/1 99 46 27 19 0.41 intronic rs2302459 MYO1C AU NM_001080950 exon2 c.1516-76T>C 0.736621 0.5506 Uncertain 17_1371088_T->C 17 1371088 1371088 T C snp 77.77 0/1 72 6 3 3 0.5 intronic rs8069059 MYO1C AU NM_001080950 exon4 c.2114-45T>C 0.736621 0.5526 0.785579 0.7270 0.4628 Uncertain 17_1371123_T->C 17 1371123 1371123 T C snp 433.77 0/1 99 23 9 14 0.61 intronic rs8072859 MYO1C AU NM_001080950 exon4 c.2114-10T>C 0.736821 0.5546 0.784780 0.7301 0.5869 Uncertain 17_1371473_C->G 17 1371473 1371473 C G snp 1755.77 0/1 99 114 42 72 0.63 intronic rs8079811 MYO1C AU NM_001080950 exon5 c.2398+56C>G 0.634185 0.4167 Uncertain 17_1371818_C->T 17 1371818 1371818 C T snp 2790.77 1/1 99 110 0 110 1.0 intronic rs8080389 MYO1C AU NM_001080950 exon7 c.2771+28C>T 1 1 1.0000 0.9997 Uncertain 17_1372987_T->G 17 1372987 1372987 T G snp 2130.77 0/1 99 191 96 95 0.5 intronic rs9303175 MYO1C AU NM_001080950 exon8 c.3889+79T>G 0.574681 0.4494 Uncertain 17_1373518_T->C 17 1373518 1373518 T C snp 712.77 0/1 99 63 32 31 0.49 exonic rs9905106 MYO1C AU nonsynonymous SNV NM_033375 exon24 c.A2372G p.Q791R 0.711661 0.4196 0.790095 0.7252 0.4330 0.53 T 0.000 P -0.953 T 0.0 T 0.001 T Pathogenic 17_1373612_C->T 17 1373612 1373612 C T snp 463.77 0/1 99 39 21 18 0.46 exonic rs8081370 MYO1C AU nonsynonymous SNV NM_033375 exon24 c.G2278A p.V760I 0.820887 0.5308 0.936747 0.8632 0.5954 0.54 T 0.000 P -0.938 T 0.001 T 0.001 T Pathogenic 17_1377878_T->C 17 1377878 1377878 T C snp 2330.77 1/1 99 81 0 81 1.0 intronic rs2286871 MYO1C AU NM_001080950 exon16 c.8884-25T>C 0.811901 0.626 0.911733 0.8523 0.6413 Uncertain 17_1377884_C->T 17 1377884 1377884 C T snp 2787.77 1/1 99 94 0 94 1.0 intronic rs2286872 MYO1C AU NM_001080950 exon16 c.8884-19C>T 0.321885 0.3115 0.384746 0.4057 0.3251 Uncertain 17_1381005_T->C 17 1381005 1381005 T C snp 1192.77 1/1 87 38 0 38 1.0 intronic rs2286876 MYO1C AU NM_001080950 exon19 c.11871+115T>C 0.813698 0.6429 Uncertain 17_1384066_A->G 17 1384066 1384066 A G snp 4671.77 1/1 99 169 0 169 1.0 exonic rs4790518 MYO1C AU synonymous SNV NM_033375 exon6 c.T636C p.G212G 0.994409 0.9732 0.999923 0.9982 0.9762 Uncertain 17_1389006_C->T 17 1389006 1389006 C T snp 91.77 0/1 33 7 2 5 0.71 intronic rs139514137 MYO1C AU NM_001080950 exon32 c.19968+19C>T 0.0301518 0.128 0.0145 0.125 Uncertain 17_1410259_C->G 17 1410259 1410259 C G snp 1015.77 0/1 99 79 38 41 0.52 intronic rs2240999 INPP5K AU NM_016532 exon6 c.11157-14C>G 0.0996406 0.128 0.129325 0.1179 0.1542 Uncertain 17_1410393_A->C 17 1410393 1410393 A C snp 963.77 0/1 99 62 22 40 0.65 intronic rs34308535 INPP5K AU NM_016532 exon6 c.11267+10A>C 0.103235 0.128 0.132036 0.1115 0.1448 Uncertain 17_1410441_C->T 17 1410441 1410441 C T snp 730.77 0/1 99 37 12 25 0.68 intronic rs35417891 INPP5K AU NM_016532 exon6 c.11267+58C>T 0.103035 0.128 Uncertain 17_1411597_C->T 17 1411597 1411597 C T snp 551.77 0/1 99 60 39 21 0.35 intronic rs2286868 INPP5K AU NM_016532 exon7 c.12404+77C>T 0.0996406 0.128 Uncertain 17_1412456_C->- 17 1412456 1412456 C - indel 766.73 1/1 57 19 0 19 1.0 intronic rs398030149 INPP5K AU NM_016532 exon8 c.13355-15delC 1 1 0.9998 1 Uncertain 17_1424948_A->G 17 1424948 1424948 A G snp 1353.77 1/1 99 49 0 49 1.0 intronic rs2277669 PITPNA AU NM_006224 exon2 c.45+9A>G 0.534944 0.5883 0.522069 0.4982 0.5829 Uncertain 17_1425064_A->G 17 1425064 1425064 A G snp 158.79 0/1 22 7 1 6 0.86 intronic rs73294784 PITPNA AU NM_006224 exon2 c.45+125A>G 0.0738818 0.126 Uncertain 17_1437278_C->T 17 1437278 1437278 C T snp 817.77 0/1 99 42 15 27 0.64 intronic rs2270228 PITPNA AU NM_006224 exon3 c.12498-114C>T 0.162141 0.4147 Uncertain 17_1437334_A->C 17 1437334 1437334 A C snp 805.77 0/1 99 95 61 34 0.36 intronic rs2270229 PITPNA AU NM_006224 exon3 c.12498-58A>C 0.0732827 0.129 Uncertain 17_1442349_G->T 17 1442349 1442349 G T snp 399.77 0/1 99 21 9 12 0.57 intronic rs73296927 PITPNA AU NM_006224 exon6 c.17352+103G>T 0.0760783 0.1181 Uncertain 17_1444702_T->C 17 1444702 1444702 T C snp 44.74 1/1 6 2 0 2 1.0 intronic rs2302460 PITPNA AU NM_006224 exon7 c.19965-157T>C 0.584065 0.6696 Uncertain 17_1456507_G->A 17 1456507 1456507 G A snp 474.77 0/1 99 48 28 20 0.42 intronic rs9895971 PITPNA AU NM_006224 exon10 c.31549+64G>A 0.223642 0.4137 Uncertain 17_1478712_G->T 17 1478712 1478712 G T snp 110.78 0/1 27 5 1 4 0.8 UTR3 rs7342891 SLC43A2 AU 0.421925 0.3929 Uncertain 17_1480088_G->A 17 1480088 1480088 G A snp 326.77 0/1 99 18 8 10 0.56 intronic rs7222193 SLC43A2 AU NM_001284499 exon2 c.1117+74G>A 0.375599 0.381 Uncertain 17_1489088_C->G 17 1489088 1489088 C G snp 3537.77 1/1 99 128 0 128 1.0 intronic rs4790208 SLC43A2 AU NM_001284499 exon5 c.10309-118C>G 0.961462 0.9702 0.9878 0.9707 Uncertain 17_1490230_A->C 17 1490230 1490230 A C snp 41.77 0/1 70 81 56 25 0.31 intronic SLC43A2 AU NM_001284498 exon6 c.11345-12A>C 0.0117 0.1467 Uncertain 17_1490379_-->CACTGCGTTTCCCG 17 1490379 1490379 - CACTGCGTTTCCCG indel 6099.73 1/1 99 56 0 56 1.0 intronic rs143498029 SLC43A2 AU NM_001284498 exon6 c.11357+125insCACTGCGTTTCCCG 0.580671 0.6101 Uncertain 17_1490409_T->C 17 1490409 1490409 T C snp 554.77 1/1 42 18 0 18 1.0 intronic rs8078582 SLC43A2 AU NM_001284498 exon6 c.11357+155T>C 0.957268 0.9702 Uncertain 17_1493972_T->G 17 1493972 1493972 T G snp 114.77 0/1 99 9 5 4 0.44 intronic rs7210368 SLC43A2 AU NM_001284499 exon6 c.15198-123T>G 0.690296 0.6002 Uncertain 17_1493999_G->C 17 1493999 1493999 G C snp 208.77 0/1 99 16 9 7 0.44 intronic rs7406591 SLC43A2 AU NM_001284499 exon6 c.15198-96G>C 0.433906 0.4187 Uncertain 17_1494027_T->C 17 1494027 1494027 T C snp 1405.77 1/1 99 40 0 40 1.0 intronic rs4790668 SLC43A2 AU NM_001284499 exon6 c.15198-68T>C 0.969249 0.9702 Uncertain 17_1495023_G->A 17 1495023 1495023 G A snp 477.77 0/1 99 31 6 25 0.81 intronic rs2002673 SLC43A2 AU NM_001284499 exon8 c.16096+30G>A 0.133387 0.3006 0.0507 0.3379 Uncertain 17_1516267_A->G 17 1516267 1516267 A G snp 77.77 0/1 28 4 1 3 0.75 intronic rs7214201 SLC43A2 AU NM_001284498 exon11 c.37591-221A>G Uncertain 17_1516480_T->C 17 1516480 1516480 T C snp 3866.77 1/1 99 139 1 138 0.99 intronic rs7219369 SLC43A2 AU NM_001284498 exon11 c.37591-8T>C 0.96226 1 0.962012 0.9895 0.9997 Uncertain 17_1520237_C->A 17 1520237 1520237 C A snp 56.74 1/1 6 2 0 2 1.0 intronic rs7209071 SLC43A2 AU NM_001284498 exon13 c.41166+174C>A 0.531749 0.7341 Uncertain 17_1530979_-->C 17 1530979 1530979 - C indel 178.73 0/1 99 30 21 9 0.3 intronic rs397729487 SLC43A2 AU NM_001284498 exon14 c.52111-29insC 0.402756 0.2262 0.427099 0.4485 0.2957 Uncertain 17_1538546_C->T 17 1538546 1538546 C T snp 5124.77 1/1 99 191 0 191 1.0 exonic rs4790250 SCARF1 AU nonsynonymous SNV NM_003693 exon11 c.G1999A p.G667S 0.906749 0.9226 0.925550 0.9715 0.9313 0.86 T 0.0 P -0.917 T 0.084 T 0.022 T Pathogenic 17_1538628_C->G 17 1538628 1538628 C G snp 4140.77 1/1 99 139 1 138 0.99 exonic rs3744644 SCARF1 AU nonsynonymous SNV NM_003693 exon11 c.G1917C p.E639D 0.903754 0.9256 0.922858 0.9698 0.9332 0.56 T 0.0 P -0.907 T 0.925 T 0.616 D Pathogenic 17_1542153_G->A 17 1542153 1542153 G A snp 2379.77 1/1 99 89 0 89 1.0 exonic rs2272012 SCARF1 AU synonymous SNV NM_003693 exon8 c.C1311T p.G437G 0.645767 0.877 0.567902 0.6470 0.8789 Uncertain 17_1542190_G->A 17 1542190 1542190 G A snp 3325.77 1/1 99 122 0 122 1.0 exonic rs2272011 SCARF1 AU nonsynonymous SNV NM_003693 exon8 c.C1274T p.A425V 0.666733 0.878 0.576426 0.6402 0.8793 0.25 T 0.0 P -1.034 T 0.1 T 0.019 T Pathogenic 17_1550106_C->T 17 1550106 1550106 C T snp 1760.77 1/1 99 51 0 51 1.0 intronic rs2293067 RILP AU NM_031430 exon2 c.464-93C>T 0.490415 0.6429 Uncertain 17_1587639_T->C 17 1587639 1587639 T C snp 222.84 1/1 18 6 0 6 1.0 intronic rs7223663 PRPF8 AD NM_006445 exon42 c.33670-126T>C 0.709465 0.75 0.671047 Uncertain 17_1611433_A->G 17 1611433 1611433 A G snp 1049.77 0/1 99 88 46 42 0.48 exonic rs4790809 TLCD2 AU synonymous SNV NM_001164407 exon4 c.T426C p.S142S 0.754593 0.6161 0.875164 0.8147 0.5638 Uncertain 17_1611545_A->C 17 1611545 1611545 A C snp 731.77 1/1 54 25 0 25 1.0 intronic rs4790810 TLCD2 AU NM_001164407 exon1 c.453+29A>C 0.885783 0.8185 0.915681 0.9117 0.8471 Uncertain 17_1612777_G->C 17 1612777 1612777 G C snp 3075.77 1/1 99 109 0 109 1.0 intronic rs11078594 TLCD2 AU NM_001164407 exon2 c.1729-15G>C 0.237819 0.499 0.153526 0.2117 0.5240 Uncertain 17_1630208_C->T 17 1630208 1630208 C T snp 6897.77 1/1 99 250 0 250 1.0 exonic rs57207396 WDR81 AR nonsynonymous SNV NM_001163809 exon1 c.C1955T p.P652L 0.233227 0.4821 0.2606 0.4948 1 T 0.002 P -0.925 T CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000118850.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 17_1630395_T->C 17 1630395 1630395 T C snp 3454.77 1/1 99 107 0 107 1.0 exonic rs59643265 WDR81 AR synonymous SNV NM_001163809 exon1 c.T2142C p.G714G 0.267173 0.4861 0.229623 0.2698 0.4935 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000118851.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 17_1630584_A->G 17 1630584 1630584 A G snp 3787.77 1/1 99 134 0 134 1.0 exonic rs7221974 WDR81 AR synonymous SNV NM_001163809 exon1 c.A2331G p.L777L 0.298522 0.4861 0.265673 0.2774 0.5036 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000118852.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 17_1633868_C->T 17 1633868 1633868 C T snp 3926.77 1/1 99 132 0 132 1.0 intronic rs62090047 WDR81 AR NM_001163809 exon2 c.5528+87C>T 0.22524 0.4683 Uncertain 17_1635614_T->C 17 1635614 1635614 T C snp 3143.77 1/1 99 123 0 123 1.0 splicing rs62090048 WDR81 AR NM_001163809 exon5 c.7365-4T>C 0.245407 0.4831 0.224819 0.2854 0.5077 Pathogenic 17_1636934_A->G 17 1636934 1636934 A G snp 3626.77 1/1 99 115 0 115 1.0 exonic rs3809870 WDR81 AR nonsynonymous SNV NM_001163809 exon7 c.A4603G p.M1535V 0.278954 0.4861 0.236133 0.2811 0.5117 0.6 T 0.0 P -1.022 T 0.0 T 0.0 T CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000118855.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 17_1637074_A->G 17 1637074 1637074 A G snp 7035.77 1/1 99 250 0 250 1.0 exonic rs3809871 WDR81 AR synonymous SNV NM_001163809 exon7 c.A4743G p.P1581P 0.539537 0.7312 0.524180 0.5164 0.7582 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000118856.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 17_1637302_A->G 17 1637302 1637302 A G snp 7499.77 1/1 99 250 0 250 1.0 exonic rs3809872 WDR81 AR synonymous SNV NM_001163809 exon7 c.A4971G p.L1657L 0.76238 0.9157 0.722966 0.7526 0.9264 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000118857.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 17_1639458_A->G 17 1639458 1639458 A G snp 1770.77 1/1 99 72 0 72 1.0 exonic rs11549259 WDR81 AR synonymous SNV NM_001163809 exon9 c.A5451G p.T1817T 0.717652 0.8383 0.693787 0.7342 0.8613 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000118860.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 17_1649267_A->G 17 1649267 1649267 A G snp 3351.77 1/1 99 114 0 114 1.0 intronic rs7501729 SERPINF2 AR NM_000934 exon5 c.914+64A>G 0.749201 0.8393 Uncertain 17_1651780_A->G 17 1651780 1651780 A G snp 1554.77 1/1 99 45 0 45 1.0 intronic rs2277695 SERPINF2 AR NM_000934 exon8 c.3602-111A>G 0.71885 0.8393 Uncertain 17_1655924_T->G 17 1655924 1655924 T G snp 1323.77 0/1 99 120 57 63 0.53 exonic rs79211530 SERPINF2 AR synonymous SNV NM_000934 exon9 c.T903G p.L301L 0.014377 0.0615 0.000308 0.0063 0.0614 Uncertain 17_1673104_G->A 17 1673104 1673104 G A snp 1086.77 0/1 99 90 46 44 0.49 intronic rs11658342 SERPINF1 AU NM_002615 exon3 c.2941-41G>A 0.221845 0.2381 0.294095 0.3065 0.2962 Uncertain 17_1673276_C->T 17 1673276 1673276 C T snp 5322.77 1/1 99 201 0 201 1.0 exonic rs1136287 SERPINF1 AU nonsynonymous SNV NM_002615 exon3 c.C215T p.T72M 0.626198 0.4871 0.711825 0.6188 0.5376 0.18 T 0.000 P -0.955 T 0.005 T 0.006 T ID=CM081434;DIS=Wet age-related macular degeneration, association with;TAG=DP;PUB=18226801 DP Pathogenic 17_1673405_G->A 17 1673405 1673405 G A snp 392.77 0/1 99 25 12 13 0.52 intronic rs12603825 SERPINF1 AU NM_002615 exon3 c.3140+61G>A 0.300519 0.246 Uncertain 17_1675127_C->T 17 1675127 1675127 C T snp 345.78 1/1 27 9 0 9 1.0 intronic rs4274474 SERPINF1 AU NM_002615 exon5 c.4961-38C>T 0.757987 0.7758 0.753114 0.7208 0.7917 Uncertain 17_1675378_G->A 17 1675378 1675378 G A snp 1526.77 0/1 99 107 44 63 0.59 intronic rs12103559 SERPINF1 AU NM_002615 exon5 c.5165+9G>A 0.134784 0.127 0.106259 0.0794 0.1330 Uncertain 17_1675451_T->C 17 1675451 1675451 T C snp 377.77 1/1 30 12 0 12 1.0 intronic rs5008943 SERPINF1 AU NM_002615 exon5 c.5165+82T>C 0.652955 0.7778 Uncertain 17_1678256_G->C 17 1678256 1678256 G C snp 663.77 1/1 51 20 0 20 1.0 intronic rs2269344 SERPINF1 AU NM_002615 exon6 c.8147-95G>C 0.76857 0.7758 Uncertain 17_1678338_A->T 17 1678338 1678338 A T snp 904.77 0/1 99 77 33 44 0.57 intronic rs3891224 SERPINF1 AU NM_002615 exon6 c.8147-13A>T 0.163738 0.127 0.133708 0.0846 0.1317 Uncertain 17_1679805_A->G 17 1679805 1679805 A G snp 1417.77 1/1 99 47 0 47 1.0 intronic rs2071022 SERPINF1 AU NM_002615 exon7 c.9621-20A>G 0.776957 0.7768 0.769183 0.7294 0.7942 Uncertain 17_1680002_T->C 17 1680002 1680002 T C snp 3837.77 1/1 99 135 0 135 1.0 exonic rs6828 SERPINF1 AU synonymous SNV NM_002615 exon7 c.T963C p.Y321Y 0.776757 0.7758 0.770106 0.7292 0.7931 Uncertain 17_1680318_A->G 17 1680318 1680318 A G snp 77.77 0/1 30 4 1 3 0.75 intronic rs9889773 SERPINF1 AU NM_002615 exon8 c.10276-162A>G 0.435503 0.5347 Uncertain 17_1680832_G->A 17 1680832 1680832 G A snp 77.77 0/1 99 6 3 3 0.5 UTR3 rs551527709 SERPINF1 AU 0.000798722 0.004 Uncertain 17_1684605_G->T 17 1684605 1684605 G T snp 373.77 0/1 99 37 19 18 0.49 exonic rs58337165 SMYD4 AU nonsynonymous SNV NM_052928 exon11 c.C2390A p.P797H 0.136581 0.128 0.108642 0.0774 0.1314 0.21 T 0.0 P -0.943 T 0.997 D 0.781 D Pathogenic 17_1684772_T->C 17 1684772 1684772 T C snp 1810.77 1/1 99 66 0 66 1.0 intronic rs7224977 SMYD4 AU NM_052928 exon1 c.154+39T>C 0.776558 0.7758 0.769568 0.7310 0.7925 Uncertain 17_1686410_T->C 17 1686410 1686410 T C snp 1413.77 1/1 99 52 0 52 1.0 exonic rs9902398 SMYD4 AU nonsynonymous SNV NM_052928 exon10 c.A2180G p.Y727C 0.776757 0.7758 0.769645 0.7293 0.7928 0.15 T 0.0 P -0.910 T 0.037 T 0.004 T Pathogenic 17_1686600_G->A 17 1686600 1686600 G A snp 182.77 0/1 99 14 8 6 0.43 intronic rs12149986 SMYD4 AU NM_052928 exon3 c.2074-53G>A 0.210463 0.246 Uncertain 17_1687560_C->T 17 1687560 1687560 C T snp 1429.77 0/1 99 103 46 57 0.55 intronic rs9892714 SMYD4 AU NM_052928 exon4 c.3040-59C>T 0.133586 0.128 Uncertain 17_1687796_A->G 17 1687796 1687796 A G snp 1555.77 1/1 99 43 0 43 1.0 intronic rs3815612 SMYD4 AU NM_052928 exon4 c.3176+41A>G 0.778155 0.7768 0.772105 0.7309 0.7937 Uncertain 17_1690303_A->T 17 1690303 1690303 A T snp 498.77 0/1 99 41 23 18 0.44 intronic rs35569587 SMYD4 AU NM_052928 exon5 c.5688+36A>T 0.248602 0.2431 Uncertain 17_1690304_AG->- 17 1690304 1690305 AG - indel 1316.73 1/1 87 41 0 41 1.0 intronic rs113708090 SMYD4 AU NM_052928 exon5 c.5688+37_5688+38delAG 0.441893 0.5308 0.680911 0.5514 0.6250 Uncertain 17_1690752_G->A 17 1690752 1690752 G A snp 530.77 0/1 99 43 19 24 0.56 exonic rs11549830 SMYD4 AU nonsynonymous SNV NM_052928 exon6 c.C1684T p.R562W 0.440495 0.5268 0.350423 0.4339 0.5556 0.12 T 0.060 P -0.987 T 0.997 D 0.809 D Pathogenic 17_1703543_G->C 17 1703543 1703543 G C snp 3601.77 0/1 99 249 119 130 0.52 exonic rs3809875 SMYD4 AU nonsynonymous SNV NM_052928 exon5 c.C1145G p.P382R 0.279353 0.1905 0.331847 0.2779 0.1670 0.51 T 0.0 P -0.857 T 0.986 D 0.936 D Pathogenic 17_1704296_C->A 17 1704296 1704296 C A snp 725.77 0/1 99 80 49 31 0.39 exonic rs7224496 SMYD4 AU nonsynonymous SNV NM_052928 exon5 c.G392T p.R131I 0.28734 0.2688 0.399739 0.3875 0.3083 0.21 T 1.000 P -0.913 T 0.993 D 0.961 D Pathogenic 17_1704398_C->A 17 1704398 1704398 C A snp 271.77 0/1 99 16 6 10 0.63 intronic rs34564270 SMYD4 AU NM_052928 exon7 c.19739+80C>A 0.148962 0.127 Uncertain 17_1707762_A->G 17 1707762 1707762 A G snp 419.77 1/1 33 13 0 13 1.0 intronic rs8067685 SMYD4 AU NM_052928 exon8 c.23340-157A>G 0.598043 0.4593 Uncertain 17_1707893_T->A 17 1707893 1707893 T A snp 1100.77 0/1 99 84 38 46 0.55 intronic rs8072508 SMYD4 AU NM_052928 exon8 c.23340-26T>A 0.332668 0.1905 0.389205 0.2938 0.1677 Uncertain 17_1715435_G->A 17 1715435 1715435 G A snp 1420.77 1/1 99 55 0 55 1.0 intronic rs7503422 SMYD4 AU NM_052928 exon9 c.30830+26G>A 0.602236 0.4593 0.779025 0.6773 0.4764 Uncertain 17_1731268_T->C 17 1731268 1731268 T C snp 5276.77 1/1 99 187 0 187 1.0 exonic rs8067660 SMYD4 AU synonymous SNV NM_052928 exon2 c.A21G p.E7E 0.589257 0.4583 0.763571 0.6716 0.4771 Uncertain 17_1733210_C->T 17 1733210 1733210 C T snp 244.77 0/1 99 28 17 11 0.39 upstream rs17291738 RPA1 AU 0.197284 0.127 Uncertain 17_1733399_A->G 17 1733399 1733399 A G snp 3046.77 1/1 99 121 0 121 1.0 exonic rs5030749 RPA1 AU synonymous SNV NM_002945 exon1 c.A12G p.Q4Q 0.544129 0.3611 0.744588 0.7023 0.4413 Uncertain 17_1748028_A->G 17 1748028 1748028 A G snp 1005.77 0/1 99 83 44 39 0.47 intronic rs4790827 RPA1 AU NM_002945 exon4 c.14593+48A>G 0.789337 0.75 0.878038 0.8583 0.7879 Uncertain 17_1761232_A->T 17 1761232 1761232 A T snp 68.77 0/1 97 17 14 3 0.18 intronic RPA1 AU NM_002945 exon5 c.23096+4749A>T Uncertain 17_1761236_A->G 17 1761236 1761236 A G snp 68.77 0/1 97 18 15 3 0.17 intronic RPA1 AU NM_002945 exon5 c.23096+4753A>G Uncertain 17_1761248_T->G 17 1761248 1761248 T G snp 57.77 0/1 86 25 22 3 0.12 intronic RPA1 AU NM_002945 exon5 c.23096+4765T>G Uncertain 17_1761267_A->G 17 1761267 1761267 A G snp 47.77 0/1 76 39 36 3 0.08 intronic RPA1 AU NM_002945 exon5 c.23096+4784A>G Uncertain 17_1761322_G->A 17 1761322 1761322 G A snp 85.77 0/1 99 104 97 7 0.07 intronic RPA1 AU NM_002945 exon5 c.23096+4839G>A Uncertain 17_1761324_C->T 17 1761324 1761324 C T snp 32.77 0/1 61 106 99 7 0.07 intronic RPA1 AU NM_002945 exon5 c.23096+4841C>T Uncertain 17_1761328_T->A 17 1761328 1761328 T A snp 77.77 0/1 99 111 104 7 0.06 intronic RPA1 AU NM_002945 exon5 c.23096+4845T>A Uncertain 17_1761329_T->C 17 1761329 1761329 T C snp 76.77 0/1 99 111 103 8 0.07 intronic RPA1 AU NM_002945 exon5 c.23096+4846T>C Uncertain 17_1761351_C->T 17 1761351 1761351 C T snp 32.77 0/1 61 143 133 10 0.07 intronic RPA1 AU NM_002945 exon5 c.23096+4868C>T Uncertain 17_1761367_G->T 17 1761367 1761367 G T snp 46.77 0/1 75 157 146 11 0.07 intronic RPA1 AU NM_002945 exon5 c.23096+4884G>T Uncertain 17_1761373_A->G 17 1761373 1761373 A G snp 53.77 0/1 82 170 157 13 0.08 intronic RPA1 AU NM_002945 exon5 c.23096+4890A>G Uncertain 17_1761377_G->A 17 1761377 1761377 G A snp 47.77 0/1 76 184 167 17 0.09 intronic RPA1 AU NM_002945 exon5 c.23096+4894G>A Uncertain 17_1761383_C->T 17 1761383 1761383 C T snp 294.77 0/1 99 200 173 27 0.14 intronic rs375054050 RPA1 AU NM_002945 exon5 c.23096+4900C>T Uncertain 17_1761391_G->A 17 1761391 1761391 G A snp 280.77 0/1 99 205 176 29 0.14 intronic RPA1 AU NM_002945 exon5 c.23096+4908G>A Uncertain 17_1761401_G->T 17 1761401 1761401 G T snp 331.77 0/1 99 214 181 33 0.15 intronic RPA1 AU NM_002945 exon5 c.23096+4918G>T Uncertain 17_1761404_G->A 17 1761404 1761404 G A snp 379.77 0/1 99 209 177 32 0.15 intronic RPA1 AU NM_002945 exon5 c.23096+4921G>A Uncertain 17_1761423_T->C 17 1761423 1761423 T C snp 302.77 0/1 99 183 159 24 0.13 intronic RPA1 AU NM_002945 exon5 c.23096+4940T>C Uncertain 17_1761425_C->A 17 1761425 1761425 C A snp 286.77 0/1 99 182 158 24 0.13 intronic RPA1 AU NM_002945 exon5 c.23096+4942C>A Uncertain 17_1761428_G->T 17 1761428 1761428 G T snp 341.77 0/1 99 179 155 24 0.13 intronic RPA1 AU NM_002945 exon5 c.23096+4945G>T Uncertain 17_1761431_T->C 17 1761431 1761431 T C snp 2415.77 0/1 99 175 73 102 0.58 intronic rs3809874 RPA1 AU NM_002945 exon5 c.23096+4948T>C 0.765775 0.752 Uncertain 17_1761436_A->G 17 1761436 1761436 A G snp 345.77 0/1 99 171 147 24 0.14 intronic RPA1 AU NM_002945 exon5 c.23096+4953A>G Uncertain 17_1761445_C->T 17 1761445 1761445 C T snp 338.77 0/1 99 164 140 24 0.15 intronic RPA1 AU NM_002945 exon5 c.23096+4962C>T Uncertain 17_1761446_G->A 17 1761446 1761446 G A snp 1751.77 0/1 99 162 88 74 0.46 intronic rs11656253 RPA1 AU NM_002945 exon5 c.23096+4963G>A 0.195288 0.2232 Uncertain 17_1761447_G->A 17 1761447 1761447 G A snp 274.77 0/1 99 161 138 23 0.14 intronic RPA1 AU NM_002945 exon5 c.23096+4964G>A Uncertain 17_1761457_C->T 17 1761457 1761457 C T snp 329.77 0/1 99 146 122 24 0.16 intronic rs765634164 RPA1 AU NM_002945 exon5 c.23096+4974C>T Uncertain 17_1761482_C->T 17 1761482 1761482 C T snp 367.77 0/1 99 119 96 23 0.19 intronic RPA1 AU NM_002945 exon5 c.23096+4999C>T Uncertain 17_1761502_T->A 17 1761502 1761502 T A snp 386.77 0/1 99 87 66 21 0.24 intronic RPA1 AU NM_002945 exon5 c.23096+5019T>A Uncertain 17_1761504_G->A 17 1761504 1761504 G A snp 388.77 0/1 99 86 65 21 0.24 intronic RPA1 AU NM_002945 exon5 c.23096+5021G>A Uncertain 17_1798491_G->A 17 1798491 1798491 G A snp 215.77 0/1 99 20 13 7 0.35 intronic rs17292489 RPA1 AU NM_002945 exon16 c.65002+102G>A 0.0185703 0.0218 Uncertain 17_1800217_G->C 17 1800217 1800217 G C snp 240.77 0/1 99 18 10 8 0.44 intronic rs7406062 RPA1 AU NM_002945 exon17 c.66977-147G>C 0.695487 0.7986 Uncertain 17_1839674_G->C 17 1839674 1839674 G C snp 135.77 0/1 99 14 9 5 0.36 UTR3 rs9902457 RTN4RL1 AU 0.696486 0.6815 Uncertain 17_1840468_C->T 17 1840468 1840468 C T snp 946.77 0/1 99 81 42 39 0.48 exonic rs9903800 RTN4RL1 AU synonymous SNV NM_178568 exon2 c.G648A p.A216A 0.679113 0.6558 0.745421 0.6967 0.6317 Uncertain 17_1939503_G->T 17 1939503 1939503 G T snp 124.03 1/1 12 4 0 4 1.0 intronic rs3752963 DPH1 AR NM_001383 exon4 c.5937+118G>T 0.150359 0.4901 Uncertain 17_1942861_C->T 17 1942861 1942861 C T snp 595.28 1/1 9 17 1 16 0.94 intronic rs7207466 DPH1 AR NM_001383 exon7 c.9600-187C>T 0.757588 0.9236 Uncertain 17_1943888_T->C 17 1943888 1943888 T C snp 6212.77 1/1 99 221 0 221 1.0 exonic rs2236375 DPH1 AR synonymous SNV NM_001383 exon9 c.T1011C p.P337P 0.816693 0.9306 0.789222 0.7876 0.9342 Uncertain 17_1945041_A->G 17 1945041 1945041 A G snp 4997.77 1/1 99 197 0 197 1.0 intronic rs7216804 DPH1 AR NM_001383 exon12 c.11613-20A>G 0.821486 0.9306 0.793173 0.8053 0.9320 Uncertain 17_1945225_T->G 17 1945225 1945225 T G snp 776.77 1/1 57 25 0 25 1.0 intronic rs869020 DPH1 AR NM_001383 exon12 c.11721+56T>G 0.401158 0.631 Uncertain 17_1945621_G->T 17 1945621 1945621 G T snp 1036.77 1/1 75 43 0 43 1.0 intronic rs2015866 DPH1 AR NM_001383 exon13 c.12450-277G>T 0.739217 0.8234 Uncertain 17_1945746_A->G 17 1945746 1945746 A G snp 218.84 1/1 18 6 0 6 1.0 intronic rs66688148 DPH1 AR NM_001383 exon13 c.12450-152A>G 0.261781 0.5357 Uncertain 17_1953533_-->GCG 17 1953533 1953533 - GCG indel 606.73 1/1 36 12 0 12 1.0 upstream;downstream rs373858394 MIR132;MIR212 UN 0.138578 0.503 0.0848 0.25 Uncertain 17_1964759_-->G 17 1964759 1964759 - G indel 622.73 0/1 99 42 13 29 0.69 UTR3 rs145926620 SMG6 AU 0.538339 0.5923 0.5124 0.5719 Uncertain 17_1965085_C->T 17 1965085 1965085 C T snp 679.77 1/1 51 18 0 18 1.0 intronic rs7214308 SMG6 AU NM_017575 exon1 c.131+169C>T 0.821885 0.9325 Uncertain 17_1965096_C->T 17 1965096 1965096 C T snp 556.77 1/1 42 14 0 14 1.0 intronic rs12939002 SMG6 AU NM_017575 exon1 c.131+180C>T 0.820887 0.9325 Uncertain 17_1968983_T->C 17 1968983 1968983 T C snp 2371.77 1/1 99 88 0 88 1.0 intronic rs2232486 SMG6 AU NM_017575 exon3 c.4188+10T>C 0.823482 0.9306 0.781332 0.7794 0.9310 Uncertain 17_1968986_A->G 17 1968986 1968986 A G snp 2262.77 1/1 99 87 0 87 1.0 intronic rs2232485 SMG6 AU NM_017575 exon3 c.4188+13A>G 0.157748 0.5903 0.040212 0.1137 0.5944 Uncertain 17_1985050_T->C 17 1985050 1985050 T C snp 385.77 1/1 30 10 0 10 1.0 intronic rs8076897 SMG6 AU NM_017575 exon5 c.20318-53T>C 0.765974 0.9296 Uncertain 17_2139654_C->G 17 2139654 2139654 C G snp 261.8 1/1 21 7 0 7 1.0 intronic rs2273984 SMG6 AU NM_017575 exon10 c.175000-131C>G 0.59984 0.7609 Uncertain 17_2195934_A->- 17 2195934 2195934 A - indel 5011.73 1/1 99 155 1 154 0.99 intronic rs3215741 SMG6 AU NM_017575 exon14 c.231139+10delA 0.573882 0.7629 0.6292 0.7370 Uncertain 17_2196088_C->T 17 2196088 2196088 C T snp 1524.77 1/1 99 44 0 44 1.0 intronic rs216206 SMG6 AU NM_017575 exon15 c.231379-76C>T 0.574481 0.7629 Uncertain 17_2196150_C->T 17 2196150 2196150 C T snp 2426.77 1/1 99 82 0 82 1.0 intronic rs216205 SMG6 AU NM_017575 exon15 c.231379-14C>T 0.757788 0.7768 0.751961 0.7541 0.7480 Uncertain 17_2200434_A->C 17 2200434 2200434 A C snp 1229.77 1/1 87 43 0 43 1.0 intronic rs170043 SMG6 AU NM_017575 exon16 c.235751-102A>C 0.834864 0.8442 Uncertain 17_2202943_T->C 17 2202943 2202943 T C snp 4939.77 1/1 99 170 0 170 1.0 exonic rs216196 SMG6 AU synonymous SNV NM_017575 exon2 c.A1104G p.S368S 0.331669 0.5913 0.258881 0.2995 0.5734 Uncertain 17_2203167_T->G 17 2203167 2203167 T G snp 5513.77 1/1 99 184 0 184 1.0 exonic rs216195 SMG6 AU nonsynonymous SNV NM_017575 exon2 c.A880C p.K294Q 0.401358 0.6736 0.312164 0.3394 0.6292 0.17 T 0.301 P -1.073 T 0.307 T 0.038 T Pathogenic 17_2203348_T->C 17 2203348 2203348 T C snp 7437.77 1/1 99 250 1 249 1.0 exonic rs216194 SMG6 AU synonymous SNV NM_017575 exon2 c.A699G p.P233P 0.94369 1 0.886514 0.8904 1 Uncertain 17_2203453_A->G 17 2203453 2203453 A G snp 7208.77 1/1 99 250 0 250 1.0 exonic rs216193 SMG6 AU synonymous SNV NM_017575 exon2 c.T594C p.A198A 0.544529 0.6806 0.552745 0.6012 0.6809 Uncertain 17_2222325_C->T 17 2222325 2222325 C T snp 964.77 1/1 72 31 0 31 1.0 intronic rs8081273 SRR AU NM_021947 exon4 c.3369+102C>T 0.496406 0.6776 Uncertain 17_2234005_C->T 17 2234005 2234005 C T snp 3967.77 1/1 99 151 1 150 0.99 intronic rs2236376 TSR1 AU NM_018128 exon6 c.6430+86C>T 0.171925 0.5218 Uncertain 17_2236404_T->C 17 2236404 2236404 T C snp 5402.77 1/1 99 193 0 193 1.0 exonic rs2281726 TSR1 AU nonsynonymous SNV NM_018128 exon7 c.A1156G p.S386G 0.173522 0.5208 0.089574 0.1427 0.5088 0.44 T 0.000 P -0.944 T 0.0 T 0.001 T Pathogenic 17_2238741_T->A 17 2238741 2238741 T A snp 31.77 0/1 60 17 13 4 0.24 intronic TSR1 AU NM_018128 exon12 c.11199+53T>A Uncertain 17_2265113_C->A 17 2265113 2265113 C A snp 6931.77 1/1 99 250 0 250 1.0 intronic rs2429906 SGSM2 AU NM_001098509 exon3 c.24111+20C>A 0.35623 0.5456 0.337075 0.3822 0.5269 Uncertain 17_2266709_T->C 17 2266709 2266709 T C snp 1850.77 1/1 99 63 0 63 1.0 intronic rs2003969 SGSM2 AU NM_001098509 exon7 c.25776-49T>C 0.653554 0.7629 0.591920 0.5530 0.7496 Uncertain 17_2266799_G->A 17 2266799 2266799 G A snp 3618.77 1/1 99 133 0 133 1.0 exonic rs745400 SGSM2 AU nonsynonymous SNV NM_014853 exon7 c.G713A p.R238K 0.552117 0.7639 0.469457 0.4954 0.7436 0.35 T 0.982 P -1.054 T 0.006 T 0.01 T Pathogenic 17_2266812_T->C 17 2266812 2266812 T C snp 3655.77 1/1 99 133 0 133 1.0 exonic rs2003968 SGSM2 AU synonymous SNV NM_014853 exon7 c.T726C p.C242C 0.566294 0.7639 0.483928 0.4997 0.7415 CLINSIG=untested;CLNDBN=Malignant_melanoma;CLNREVSTAT=no_assertion_provided;CLNACC=RCV000071372.2;CLNDSDB=MedGen:SNOMED_CT;CLNDSDBID=C0025202:2092003 Uncertain 17_2267694_C->T 17 2267694 2267694 C T snp 837.77 1/1 63 22 0 22 1.0 intronic rs2286881 SGSM2 AU NM_001098509 exon9 c.26907-195C>T 0.427716 0.6141 Uncertain 17_2268139_G->C 17 2268139 2268139 G C snp 674.77 1/1 51 24 0 24 1.0 intronic rs2447099 SGSM2 AU NM_001098509 exon10 c.27208-51G>C 0.652955 0.7629 0.576588 Uncertain 17_2268311_G->A 17 2268311 2268311 G A snp 1283.77 0/1 99 107 51 56 0.52 exonic rs2248821 SGSM2 AU nonsynonymous SNV NM_014853 exon10 c.G1121A p.R374Q 0.563898 0.7619 0.484930 0.4987 0.7408 0.06 T 1.000 P -1.033 T 0.041 T 0.028 T Pathogenic 17_2268681_T->C 17 2268681 2268681 T C snp 829.77 1/1 63 23 0 23 1.0 intronic rs2429908 SGSM2 AU NM_001098509 exon11 c.27653+46T>C 0.564497 0.7629 0.464723 0.5221 0.7683 Uncertain 17_2270777_T->C 17 2270777 2270777 T C snp 483.77 1/1 36 14 0 14 1.0 intronic rs2429910 SGSM2 AU NM_014853 exon12 c.29717+78T>C 0.566094 0.7649 Uncertain 17_2276402_TGA->- 17 2276402 2276404 TGA - indel 12231.7 1/1 99 228 0 228 1.0 intronic rs571667188 SGSM2 AU NM_001098509 exon15 c.35393+27_35393+29delTGA 0.339657 0.502 0.295222 0.3492 0.4679 Uncertain 17_2318695_G->A 17 2318695 2318695 G A snp 2039.77 1/1 99 73 0 73 1.0 ncRNA_exonic rs4790335 LOC284009 AU 0.693091 0.9643 0.597126 0.7070 0.9775 Uncertain 17_2323953_-->A 17 2323953 2323953 - A indel 253.73 0/1 99 50 23 27 0.54 intronic rs11427343 METTL16 AU NM_024086 exon1 c.627+63insA Uncertain 17_2371000_G->A 17 2371000 2371000 G A snp 2670.77 1/1 99 86 0 86 1.0 intronic rs10163513 METTL16 AU NM_024086 exon6 c.47791-54G>A 0.521965 0.8224 Uncertain 17_2573652_C->T 17 2573652 2573652 C T snp 765.77 1/1 57 19 0 19 1.0 intronic rs3213696 PAFAH1B1 AO NM_000430 exon6 c.32043+27C>T 0.892372 0.9335 0.887283 0.9149 0.9386 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000147044.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 17_2595291_C->T 17 2595291 2595291 C T snp 259.8 1/1 21 10 0 10 1.0 intronic rs62068251 CLUH AU NM_015229 exon4 c.1410-6C>T 0.426717 0.502 0.400881 0.4569 0.5181 Uncertain 17_2595535_G->T 17 2595535 2595535 G T snp 212.84 1/1 18 7 0 7 1.0 intronic rs2240732 CLUH AU NM_015229 exon5 c.1767-119G>T 0.445088 0.5198 Uncertain 17_2597724_CAGCGGGGACA->- 17 2597724 2597734 CAGCGGGGACA - indel 15116.7 1/1 99 137 0 137 1.0 intronic rs58962366 CLUH AU NM_015229 exon10 c.3886-49_3886-39delCAGCGGGGACA 0.859821 Uncertain 17_2598627_T->C 17 2598627 2598627 T C snp 6545.77 1/1 99 232 0 232 1.0 intronic rs1003398 CLUH AU NM_015229 exon13 c.4780-40T>C 0.984625 1 0.979008 0.9943 1 Uncertain 17_2598639_C->G 17 2598639 2598639 C G snp 6266.77 1/1 99 222 0 222 1.0 intronic rs1003399 CLUH AU NM_015229 exon13 c.4780-28C>G 0.469848 0.5327 0.514786 0.5671 0.5003 Uncertain 17_2599612_C->G 17 2599612 2599612 C G snp 2492.77 1/1 99 75 0 75 1.0 intronic rs2302200 CLUH AU NM_015229 exon14 c.5666+59C>G 0.83147 0.9216 Uncertain 17_2604375_C->T 17 2604375 2604375 C T snp 1583.77 1/1 99 51 0 51 1.0 intronic rs758417 CLUH AU NM_015229 exon20 c.10546-58C>T 0.446685 0.5228 Uncertain 17_2606715_G->A 17 2606715 2606715 G A snp 6408.77 1/1 99 232 0 232 1.0 exonic rs1065479 CLUH AU synonymous SNV NM_015229 exon3 c.C258T p.R86R 0.488818 0.5248 0.527786 0.5735 0.4959 Uncertain 17_2607560_A->G 17 2607560 2607560 A G snp 1346.77 1/1 99 39 0 39 1.0 intronic rs12953041 CLUH AU NM_015229 exon25 c.13768-95A>G 0.822883 0.9137 Uncertain 17_2699935_T->C 17 2699935 2699935 T C snp 1462.77 1/1 99 59 0 59 1.0 intronic rs123059 RAP1GAP2 AU NM_001100398 exon1 c.44+70T>C 0.699081 0.5327 0.754052 Uncertain 17_2703722_GGCTGTCCCGGGGACTCCTCCA->- 17 2703722 2703743 GGCTGTCCCGGGGACTCCTCCA - indel 10969.7 0/1 99 77 33 44 0.57 intronic rs72122107 RAP1GAP2 AU NM_001100398 exon2 c.3987-86_3987-65delGGCTGTCCCGGGGACTCCTCCA 0.146166 0.2242 Uncertain 17_2703764_C->G 17 2703764 2703764 C G snp 1154.77 0/1 99 140 83 57 0.41 intronic rs11869022 RAP1GAP2 AU NM_001100398 exon2 c.3987-44C>G 0.121605 0.1419 0.180059 0.1974 0.1431 Uncertain 17_2868935_T->C 17 2868935 2868935 T C snp 1077.77 1/1 78 39 0 39 1.0 exonic rs12950923 RAP1GAP2 AU synonymous SNV NM_001100398 exon7 c.T549C p.L183L 0.801118 0.8819 0.802695 0.8251 0.8692 Uncertain 17_2883588_C->A 17 2883588 2883588 C A snp 2247.77 1/1 99 94 0 94 1.0 exonic rs17762452 RAP1GAP2 AU nonsynonymous SNV NM_001100398 exon8 c.C559A p.L187M 0.297125 0.3313 0.258143 0.3383 0.3283 0.26 T 0.001 P -1.104 T 0.173 T 0.174 T Pathogenic 17_2908816_A->G 17 2908816 2908816 A G snp 923.77 0/1 99 83 41 42 0.51 intronic rs2289648 RAP1GAP2 AU NM_001100398 exon14 c.208913+82A>G 0.30631 0.3343 Uncertain 17_2921210_-->GT 17 2921210 2921210 - GT indel 373.73 0/1 99 24 12 12 0.5 intronic rs56791699 RAP1GAP2 AU NM_001100398 exon17 c.221533-144insGT 0.444089 0.5139 Uncertain 17_2921251_A->G 17 2921251 2921251 A G snp 737.77 0/1 99 47 19 28 0.6 intronic rs8064800 RAP1GAP2 AU NM_001100398 exon17 c.221533-103A>G 0.846046 0.6835 Uncertain 17_2923597_C->A 17 2923597 2923597 C A snp 595.77 1/1 45 18 0 18 1.0 intronic rs2304981 RAP1GAP2 AU NM_001100398 exon18 c.223949-173C>A 0.876997 0.8581 Uncertain 17_2923767_A->G 17 2923767 2923767 A G snp 3978.77 1/1 99 149 0 149 1.0 splicing rs2304982 RAP1GAP2 AU NM_001100398 exon18 c.223949-3A>G 0.876797 0.8581 0.928748 0.9193 0.8580 Pathogenic 17_2924011_T->C 17 2924011 2924011 T C snp 810.77 1/1 60 23 0 23 1.0 intronic rs4790416 RAP1GAP2 AU NM_001100398 exon18 c.224068+122T>C 0.876797 0.8581 Uncertain 17_2929286_A->C 17 2929286 2929286 A C snp 605.77 0/1 99 64 37 27 0.42 intronic rs4072679 RAP1GAP2 AU NM_001100398 exon19 c.229480-15A>C 0.691294 0.6438 0.698070 0.6937 0.6512 Uncertain 17_2929392_G->A 17 2929392 2929392 G A snp 806.77 0/1 99 76 41 35 0.46 exonic rs55904912 RAP1GAP2 AU synonymous SNV NM_001100398 exon19 c.G1797A p.P599P 0.428514 0.5466 0.362427 0.4395 0.5425 Uncertain 17_2929674_T->C 17 2929674 2929674 T C snp 1543.77 0/1 99 120 60 60 0.5 exonic rs12941934 RAP1GAP2 AU synonymous SNV NM_001100398 exon20 c.T1851C p.R617R 0.581869 0.6429 0.566441 0.6078 0.6550 Uncertain 17_2930223_T->C 17 2930223 2930223 T C snp 633.77 0/1 99 63 37 26 0.41 intronic rs4790114 RAP1GAP2 AU NM_001100398 exon21 c.230416-14T>C 0.459065 0.5476 0.360000 0.4532 0.5507 Uncertain 17_2930339_G->A 17 2930339 2930339 G A snp 1806.77 0/1 99 162 81 81 0.5 exonic rs4790115 RAP1GAP2 AU synonymous SNV NM_001100398 exon21 c.G2037A p.P679P 0.427316 0.5486 0.362514 0.5130 0.6069 Uncertain 17_2935577_T->G 17 2935577 2935577 T G snp 482.77 1/1 36 17 0 17 1.0 intronic rs4239038 RAP1GAP2 AU NM_001100398 exon23 c.235883-127T>G 0.623602 0.7976 Uncertain 17_2935591_T->C 17 2935591 2935591 T C snp 780.77 1/1 57 28 0 28 1.0 intronic rs4239039 RAP1GAP2 AU NM_001100398 exon23 c.235883-113T>C 0.999601 0.999 Uncertain 17_2937663_-->A 17 2937663 2937663 - A indel 1288.73 0/1 99 81 44 37 0.46 UTR3 rs145323203 RAP1GAP2 AU 0.0271565 0.1131 Uncertain 17_3100827_T->C 17 3100827 3100827 T C snp 6519.77 1/1 99 243 0 243 1.0 exonic rs2241093 OR1A2 AU synonymous SNV NM_012352 exon1 c.T15C p.N5N 0.291534 0.5605 0.284253 0.3470 0.5565 Uncertain 17_3101076_G->C 17 3101076 3101076 G C snp 3612.77 1/1 99 109 0 109 1.0 exonic rs2241092 OR1A2 AU synonymous SNV NM_012352 exon1 c.G264C p.G88G 0.864217 0.8185 0.919422 0.8870 0.7995 Uncertain 17_3101578_G->T 17 3101578 3101578 G T snp 6700.77 1/1 99 225 0 225 1.0 exonic rs2241091 OR1A2 AU nonsynonymous SNV NM_012352 exon1 c.G766T p.G256C 0.28155 0.5595 0.276411 0.3404 0.5560 0 D 0.015 P -1.124 T 1.0 D 0.999 D Pathogenic 17_3101691_G->T 17 3101691 3101691 G T snp 4566.77 1/1 99 171 1 170 0.99 exonic rs12150427 OR1A2 AU nonsynonymous SNV NM_012352 exon1 c.G879T p.W293C 0.288938 0.5595 0.283485 0.3427 0.5558 0 D 0.013 P -0.924 T 0.007 T 0.002 T Pathogenic 17_3119008_T->C 17 3119008 3119008 T C snp 1487.77 0/1 99 155 94 61 0.39 exonic rs4325604 OR1A1 AU synonymous SNV NM_014565 exon1 c.T94C p.L32L 0.827276 0.7421 0.897586 0.8665 0.7087 Uncertain 17_3182309_G->T 17 3182309 3182309 G T snp 1138.77 1/1 87 33 0 33 1.0 upstream rs2014057 OR3A2 AU 0.556709 0.9256 Uncertain 17_3195503_C->T 17 3195503 3195503 C T snp 4150.77 1/1 99 146 0 146 1.0 exonic rs703903 OR3A1 AU nonsynonymous SNV NM_002550 exon1 c.G374A p.R125Q 0.55012 0.9266 0.459557 0.5614 0.9299 0 D 0.999 P -0.966 T 1.0 D 0.975 D Pathogenic 17_3213448_T->C 17 3213448 3213448 T C snp 139.03 1/1 12 4 0 4 1.0 upstream rs231679 OR3A4P AU 0.581669 0.9444 Uncertain 17_3213690_T->C 17 3213690 3213690 T C snp 2546.77 0/1 99 185 80 105 0.57 ncRNA_exonic rs61734050 OR3A4P AU 0.108626 0.1567 0.088651 0.1194 0.1619 Uncertain 17_3214181_T->G 17 3214181 3214181 T G snp 3313.77 0/1 99 250 126 124 0.5 ncRNA_exonic rs231678 OR3A4P AU 0.436901 0.4425 0.371367 0.4501 0.4763 Uncertain 17_3301549_G->A 17 3301549 3301549 G A snp 1678.77 0/1 99 154 86 68 0.44 exonic rs150988 OR1E1 AU synonymous SNV NM_003553 exon1 c.C156T p.D52D 0.446286 0.4315 0.383515 0.4506 0.4780 Uncertain 17_3324004_C->T 17 3324004 3324004 C T snp 568.77 1/1 45 250 112 138 0.55 exonic rs227789 OR3A3 AU nonsynonymous SNV NM_012373 exon1 c.C143T p.T48I 0.801318 0.6032 0.8143 0.6712 0.08 T 0.0 P -0.903 T 0.0 T 0.0 T Pathogenic 17_3324086_G->A 17 3324086 3324086 G A snp 155.84 1/1 18 250 104 146 0.58 exonic rs12451522 OR3A3 AU synonymous SNV NM_012373 exon1 c.G225A p.L75L 0.977636 0.994 0.9923 0.9944 Uncertain 17_3324255_C->T 17 3324255 3324255 C T snp 471.77 0/1 99 160 108 52 0.33 exonic rs61422980 OR3A3 AU nonsynonymous SNV NM_012373 exon1 c.C394T p.L132F 0.355631 0.128 0.4552 0.1215 0.67 T 0.000 P -0.925 T 0.0 T 0.0 T Pathogenic 17_3324810_A->G 17 3324810 3324810 A G snp 991.77 0/1 99 99 53 46 0.46 exonic rs227787 OR3A3 AU nonsynonymous SNV NM_012373 exon1 c.A949G p.K317E 0.34405 0.3819 0.229586 0.2905 0.3935 0.04 T 0.0 P -0.956 T 0.005 T 0.01 T Pathogenic 17_3324908_C->G 17 3324908 3324908 C G snp 711.77 0/1 99 57 28 29 0.51 downstream rs58126916 OR3A3 AU 0.0081869 0.0169 Uncertain 17_3343534_C->T 17 3343534 3343534 C T snp 2177.77 0/1 99 197 95 102 0.52 exonic rs9901726 SPATA22 AU synonymous SNV NM_001170696 exon8 c.G870A p.P290P 0.0726837 0.1131 0.045825 0.0347 0.1017 Uncertain 17_3349685_T->C 17 3349685 3349685 T C snp 115.77 0/1 99 14 8 6 0.43 intronic rs9900543 SPATA22 AU NM_032598 exon3 c.6325-80T>C 0.0746805 0.1151 Uncertain 17_3352438_C->G 17 3352438 3352438 C G snp 793.77 0/1 99 73 41 32 0.44 exonic rs2291604 SPATA22 AU nonsynonymous SNV NM_001170696 exon5 c.G206C p.R69T 0.0736821 0.1131 0.045846 0.0355 0.1021 0.12 T 0.0 P -0.999 T 0.024 T 0.01 T Pathogenic 17_3372800_G->A 17 3372800 3372800 G A snp 204.77 0/1 99 25 17 8 0.32 intronic rs9895581 SPATA22 AU NM_032598 exon8 c.29252+108G>A 0.0734824 0.1131 Uncertain 17_3402271_C->T 17 3402271 3402271 C T snp 1338.77 0/1 99 106 45 61 0.58 exonic rs78677072 ASPA AR synonymous SNV NM_000049 exon6 c.C831T p.T277T 0.00898562 0.0119 0.000077 0.0042 0.0103 ID=COSM148150;OCCURENCE=1(stomach) Uncertain 17_3402521_C->A 17 3402521 3402521 C A snp 44.74 1/1 6 2 0 2 1.0 UTR3 rs1552830 ASPA AR 0.999201 1 Uncertain 17_3417123_C->T 17 3417123 3417123 C T snp 1084.77 1/1 81 34 0 34 1.0 UTR3 rs906418 TRPV3 AD 0.996006 1 Uncertain 17_3417144_CA->- 17 3417144 3417145 CA - indel 882.73 0/1 99 48 27 21 0.44 UTR3 rs10573788 TRPV3 AD 0.209465 0.3135 Uncertain 17_3418104_G->A 17 3418104 3418104 G A snp 403.77 0/1 99 21 5 16 0.76 intronic rs78125306 TRPV3 AD NM_001258205 exon2 c.756+138G>A 0.0698882 0.25 Uncertain 17_3418120_GTT->- 17 3418120 3418122 GTT - indel 793.73 1/1 45 17 0 17 1.0 intronic rs10579788 TRPV3 AD NM_001258205 exon2 c.756+154_756+156delGTT 0.580272 0.3859 Uncertain 17_3419689_C->T 17 3419689 3419689 C T snp 633.77 0/1 99 66 40 26 0.39 intronic rs8081785 TRPV3 AD NM_001258205 exon3 c.2540-61C>T 0.588259 0.6349 Uncertain 17_3419690_A->G 17 3419690 3419690 A G snp 2261.77 1/1 99 70 0 70 1.0 intronic rs8082339 TRPV3 AD NM_001258205 exon3 c.2540-60A>G 0.936102 1 Uncertain 17_3422032_G->A 17 3422032 3422032 G A snp 2010.77 0/1 99 151 68 83 0.55 exonic rs7216486 TRPV3 AD synonymous SNV NM_145068 exon15 c.C1923T p.D641D 0.66893 0.9524 0.529448 0.5999 0.9530 Uncertain 17_3422077_G->A 17 3422077 3422077 G A snp 1513.77 0/1 99 118 56 62 0.53 exonic rs12946883 TRPV3 AD synonymous SNV NM_145068 exon15 c.C1878T p.S626S 0.327676 0.3333 0.296863 0.3045 0.3619 Uncertain 17_3424183_A->G 17 3424183 3424183 A G snp 355.78 1/1 27 13 0 13 1.0 intronic rs8079980 TRPV3 AD NM_001258205 exon5 c.7056-83A>G 0.959265 1 Uncertain 17_3424319_A->G 17 3424319 3424319 A G snp 697.77 0/1 99 77 45 32 0.42 exonic rs190807280 TRPV3 AD synonymous SNV NM_145068 exon14 c.T1758C p.D586D 0.000399361 0.002 8.415e-05 0.0008 Uncertain 17_3427442_A->G 17 3427442 3427442 A G snp 567.77 0/1 99 31 9 22 0.71 intronic rs62069862 TRPV3 AD NM_001258205 exon6 c.10281-49A>G 0.222244 0.0357 0.359449 0.3802 0.0400 Uncertain 17_3433543_A->G 17 3433543 3433543 A G snp 996.77 0/1 99 71 29 42 0.59 intronic rs4790510 TRPV3 AD NM_001258205 exon10 c.16287+46A>G 0.38119 0.5417 0.245348 0.2426 0.5134 Uncertain 17_3433549_A->C 17 3433549 3433549 A C snp 885.77 0/1 99 66 27 39 0.59 intronic rs4790511 TRPV3 AD NM_001258205 exon10 c.16287+52A>C 0.380791 0.5397 0.253575 0.2408 0.5104 Uncertain 17_3433595_C->T 17 3433595 3433595 C T snp 484.77 0/1 99 36 15 21 0.58 intronic rs4790512 TRPV3 AD NM_001258205 exon10 c.16287+98C>T 0.379792 0.5397 Uncertain 17_3435935_C->A 17 3435935 3435935 C A snp 1079.77 0/1 99 72 32 40 0.56 intronic rs454738 TRPV3 AD NM_001258205 exon11 c.18740-15C>A 0.605032 0.7083 0.578130 0.6274 0.6959 Uncertain 17_3445901_T->G 17 3445901 3445901 T G snp 7249.77 1/1 99 249 0 249 1.0 exonic rs11078458 TRPV3 AD synonymous SNV NM_145068 exon6 c.A558C p.I186I 0.579073 0.746 0.514686 0.6149 0.7247 Uncertain 17_3447914_C->T 17 3447914 3447914 C T snp 1115.77 1/1 78 45 0 45 1.0 exonic rs1039519 TRPV3 AD synonymous SNV NM_145068 exon4 c.G270A p.Q90Q 0.66254 0.7937 0.586191 0.6404 0.7874 Uncertain 17_3457878_T->C 17 3457878 3457878 T C snp 136.03 1/1 12 4 0 4 1.0 intronic rs322966 TRPV3 AD NM_001258205 exon17 c.40815-147T>C 0.720248 0.7679 Uncertain 17_3457893_G->A 17 3457893 3457893 G A snp 150.77 0/1 99 8 3 5 0.63 intronic rs117998375 TRPV3 AD NM_001258205 exon17 c.40815-132G>A 0.0109824 0.0278 Uncertain 17_3457954_-->G 17 3457954 3457954 - G indel 343.73 0/1 99 35 20 15 0.43 intronic rs11453205 TRPV3 AD NM_001258205 exon17 c.40815-71insG 0.528554 0.6944 Uncertain 17_3458072_T->C 17 3458072 3458072 T C snp 3176.77 1/1 99 109 0 109 1.0 exonic rs322965 TRPV3 AD nonsynonymous SNV NM_145068 exon2 c.A73G p.I25V 0.997204 1 0.998001 0.9994 1 0.56 T 0.0 P -1.024 T 0.0 T 0.0 T Pathogenic 17_3458073_G->A 17 3458073 3458073 G A snp 1272.77 0/1 99 110 55 55 0.5 exonic rs116068630 TRPV3 AD synonymous SNV NM_145068 exon2 c.C72T p.A24A 0.00938498 0.0278 0.000077 0.0045 0.0314 Uncertain 17_3475367_T->G 17 3475367 3475367 T G snp 2819.77 1/1 99 95 0 95 1.0 intronic rs224548 TRPV1 AU NM_080704 exon3 c.5307-48T>G 0.866214 1 0.869391 0.9620 0.9995 Uncertain 17_3475405_C->T 17 3475405 3475405 C T snp 3921.77 1/1 99 139 0 139 1.0 intronic rs224549 TRPV1 AU NM_080704 exon3 c.5307-10C>T 0.867612 1 0.871886 0.9636 1 Uncertain 17_3475564_C->T 17 3475564 3475564 C T snp 4649.77 1/1 99 167 1 166 0.99 intronic rs224550 TRPV1 AU NM_080704 exon3 c.5435+21C>T 0.866414 1 0.853713 0.9650 1 Uncertain 17_3476832_A->C 17 3476832 3476832 A C snp 201.84 1/1 18 6 0 6 1.0 intronic rs2456855 TRPV1 AU NM_080704 exon4 c.6818-94A>C 0.873802 0.9891 Uncertain 17_3476909_C->T 17 3476909 3476909 C T snp 573.77 0/1 99 53 27 26 0.49 intronic rs113287435 TRPV1 AU NM_080704 exon4 c.6818-17C>T 0.00838658 0.0278 0.002487 0.0062 0.0512 Uncertain 17_3477173_A->C 17 3477173 3477173 A C snp 1102.77 0/1 99 98 48 50 0.51 exonic rs375458057 TRPV1 AU synonymous SNV NM_080706 exon12 c.T1857G p.P619P 0.00738818 0.0278 0.0040 0.0381 Uncertain 17_3480396_C->T 17 3480396 3480396 C T snp 1728.77 0/1 99 167 87 80 0.48 intronic rs8078936 TRPV1 AU NM_080704 exon5 c.10311-23C>T 0.298522 0.5218 0.287648 0.4001 0.5923 Uncertain 17_3480447_T->C 17 3480447 3480447 T C snp 1710.77 0/1 99 169 88 81 0.48 exonic rs8065080 TRPV1 AU nonsynonymous SNV NM_080706 exon11 c.A1753G p.I585V 0.317692 0.5883 0.300307 0.4522 0.6665 0.2 T 0.0 P -0.914 T 0.002 T 0.001 T ID=CM105494;DIS=Asthma, decreased risk, association with;TAG=DFP;PUB=20639579 DFP Pathogenic 17_3486702_G->A 17 3486702 3486702 G A snp 1281.77 0/1 99 113 58 55 0.49 exonic rs224534 TRPV1 AU nonsynonymous SNV NM_080706 exon8 c.C1406T p.T469I 0.377995 0.7679 0.261995 0.4423 0.7758 0.14 T 0.0 P -0.886 T 0.44 T 0.123 T Pathogenic 17_3489244_G->A 17 3489244 3489244 G A snp 715.77 0/1 99 72 43 29 0.4 intronic rs161394 TRPV1 AU NM_080704 exon9 c.19112+24G>A 0.217053 0.4911 0.172557 0.2520 0.5129 Uncertain 17_3489351_A->C 17 3489351 3489351 A C snp 80.77 0/1 30 4 1 3 0.75 intronic rs74389246 TRPV1 AU NM_080704 exon9 c.19112+131A>C 0.195687 0.1845 Uncertain 17_3492002_A->G 17 3492002 3492002 A G snp 86.28 1/1 9 3 0 3 1.0 intronic rs161390 TRPV1 AU NM_080704 exon10 c.21553+341A>G 0.998003 1 Uncertain 17_3492057_G->A 17 3492057 3492057 G A snp 133.77 0/1 99 19 12 7 0.37 intronic rs161389 TRPV1 AU NM_080704 exon10 c.21553+396G>A 0.21266 0.4802 Uncertain 17_3492108_A->- 17 3492108 3492108 A - indel 477.73 1/1 33 35 3 32 0.91 intronic rs3837859 TRPV1 AU NM_080704 exon10 c.21553+447delA 0.612021 0.8135 Uncertain 17_3492120_A->C 17 3492120 3492120 A C snp 822.77 0/1 99 46 11 35 0.76 intronic rs520671 TRPV1 AU NM_080704 exon10 c.21553+459A>C 0.34365 0.5119 Uncertain 17_3493533_A->G 17 3493533 3493533 A G snp 2546.77 1/1 99 95 0 95 1.0 intronic rs161387 TRPV1 AU NM_080704 exon12 c.23437-12A>G 0.996605 1 0.996663 0.9987 1 Uncertain 17_3513719_G->A 17 3513719 3513719 G A snp 402.77 0/1 99 28 12 16 0.57 UTR3 rs465563 SHPK AU 0.48762 0.6478 Uncertain 17_3514028_G->C 17 3514028 3514028 G C snp 4488.77 1/1 99 151 0 151 1.0 exonic rs224496 SHPK AU nonsynonymous SNV NM_013276 exon7 c.C1263G p.D421E 0.999401 1 0.999769 0.9999 1 0.4 T 0.0 P -1.014 T 0.0 T 0.0 T Pathogenic 17_3524848_A->C 17 3524848 3524848 A C snp 166.9 1/1 15 5 0 5 1.0 intronic rs8079419 SHPK AU NM_013276 exon3 c.10853+142A>C 1 1 Uncertain 17_3533310_T->C 17 3533310 3533310 T C snp 354.78 1/1 27 10 0 10 1.0 intronic rs161362 SHPK AU NM_013276 exon6 c.19645-188T>C 0.998802 1 Uncertain 17_3533748_C->T 17 3533748 3533748 C T snp 176.9 1/1 15 5 0 5 1.0 intronic rs161361 SHPK AU NM_013276 exon6 c.19787+108C>T 0.390375 0.6647 Uncertain 17_3533759_C->T 17 3533759 3533759 C T snp 96.28 1/1 9 3 0 3 1.0 intronic rs161360 SHPK AU NM_013276 exon6 c.19787+119C>T 0.390375 0.6647 Uncertain 17_3552372_G->C 17 3552372 3552372 G C snp 640.77 1/1 48 19 0 19 1.0 intronic rs161351 CTNS AR NM_004937 exon5 c.8725+147G>C 0.277556 0.4931 Uncertain 17_3553526_A->G 17 3553526 3553526 A G snp 1577.77 1/1 99 62 0 62 1.0 intronic rs161350 CTNS AR NM_004937 exon5 c.8725+1301A>G 0.844649 0.9177 0.9626 0.9342 0 D 0.0 P -1.017 T Uncertain 17_3558417_C->G 17 3558417 3558417 C G snp 4222.77 1/1 99 146 0 146 1.0 intronic rs459613 CTNS AR NM_004937 exon6 c.14895+22C>G 0.845248 0.9256 0.863448 0.9538 0.9326 Uncertain 17_3558698_G->A 17 3558698 3558698 G A snp 794.77 1/1 60 23 0 23 1.0 intronic rs467277 CTNS AR NM_004937 exon7 c.15146+52G>A 0.571685 0.747 0.502889 0.5618 0.7457 Uncertain 17_3561396_C->T 17 3561396 3561396 C T snp 2703.77 1/1 99 98 0 98 1.0 exonic rs161400 CTNS AR nonsynonymous SNV NM_004937 exon10 c.C779T p.T260I 0.818291 0.9256 0.834922 0.9183 0.9313 0.78 T 0.930 P -0.948 T 0.001 T 0.001 T Pathogenic 17_3563963_C->G 17 3563963 3563963 C G snp 4596.77 1/1 99 177 0 177 1.0 UTR3 rs2873624 CTNS AR 0.228634 0.503 0.190451 0.2514 0.4967 0.63 T 0.0 P -1.009 T 0.006 T 0.004 T Uncertain 17_3567461_G->A 17 3567461 3567461 G A snp 1795.77 0/1 99 155 80 75 0.48 ncRNA_intronic rs2235107 P2RX5-TAX1BP3 AU 0.791933 0.6746 0.867984 0.8450 0.6923 Uncertain 17_3568012_A->G 17 3568012 3568012 A G snp 1631.77 0/1 99 190 116 74 0.39 exonic rs8278 TAX1BP3 AU synonymous SNV NM_014604 exon2 c.T120C p.D40D 0.792532 0.6746 0.868599 0.8451 0.6912 Uncertain 17_3577273_A->G 17 3577273 3577273 A G snp 568.77 0/1 99 47 23 24 0.51 ncRNA_intronic rs160587 P2RX5-TAX1BP3 AU 0.56849 0.5397 Uncertain 17_3582954_C->T 17 3582954 3582954 C T snp 1990.77 0/1 99 196 102 94 0.48 exonic rs61748727 P2RX5 AU nonsynonymous SNV NM_002561 exon11 c.G1189A p.E397K 0.0183706 0.0486 0.004844 0.0104 0.0511 0.14 T 1 N -1.021 T 0.009 T 0.005 T Pathogenic 17_3591453_A->C 17 3591453 3591453 A C snp 1750.77 0/1 99 137 68 69 0.5 ncRNA_intronic rs78411513 P2RX5-TAX1BP3 AU 0.0547125 0.0387 0.057381 Uncertain 17_3591822_A->G 17 3591822 3591822 A G snp 266.77 0/1 99 14 5 9 0.64 ncRNA_intronic rs220488 P2RX5-TAX1BP3 AU 0.180312 0.2857 Uncertain 17_3592740_T->C 17 3592740 3592740 T C snp 447.77 0/1 99 39 20 19 0.49 ncRNA_intronic rs220487 P2RX5-TAX1BP3 AU 0.200479 0.2897 0.174692 0.1759 0.2919 Uncertain 17_3593074_A->G 17 3593074 3593074 A G snp 227.84 1/1 18 7 0 7 1.0 ncRNA_intronic rs220486 P2RX5-TAX1BP3 AU 0.819289 1 Uncertain 17_3594277_G->- 17 3594277 3594277 G - indel 1707.73 0/1 99 133 77 56 0.42 exonic rs3215407 P2RX5 AU frameshift deletion NM_002561 exon3 c.333delC p.P111fs 0.573482 0.8145 0.543850 0.6676 0.8099 ID=COSM3722925;OCCURENCE=1(upper_aerodigestive_tract) Pathogenic 17_3599044_C->T 17 3599044 3599044 C T snp 203.77 0/1 99 23 16 7 0.3 ncRNA_intronic rs2293880 P2RX5-TAX1BP3 AU 0.253395 0.4266 Uncertain 17_3618298_C->T 17 3618298 3618298 C T snp 1502.77 0/1 99 117 56 61 0.52 intronic rs1367950 ITGAE AU NM_002208 exon1 c.96+62C>T 0.352436 0.3373 Uncertain 17_3620138_A->G 17 3620138 3620138 A G snp 435.77 0/1 99 61 43 18 0.3 intronic rs2293881 ITGAE AU NM_002208 exon2 c.1952+46A>G 0.610024 0.3433 0.5992 0.3777 Uncertain 17_3626816_G->A 17 3626816 3626816 G A snp 493.77 0/1 99 45 28 17 0.38 intronic rs16953429 ITGAE AU NM_002208 exon4 c.8537+139G>A 0.385184 0.6657 Uncertain 17_3627473_C->T 17 3627473 3627473 C T snp 2678.77 0/1 99 250 129 121 0.48 exonic rs9907144 GSG2 AU nonsynonymous SNV NM_031965 exon1 c.C244T p.R82C 0.527756 0.3363 0.588986 0.5497 0.4082 0 D 0.959 P -1.002 T 0.158 T 0.019 T Pathogenic 17_3627840_G->A 17 3627840 3627840 G A snp 1811.77 0/1 99 201 121 80 0.4 exonic rs220462 GSG2 AU nonsynonymous SNV NM_031965 exon1 c.G611A p.G204D 0.257788 0.3006 0.238890 0.3069 0.3263 0 D 0.0 P -0.904 T 0.001 T 0.003 T Pathogenic 17_3628212_T->C 17 3628212 3628212 T C snp 1061.77 0/1 99 105 58 47 0.45 exonic rs220461 GSG2 AU nonsynonymous SNV NM_031965 exon1 c.T983C p.I328T 0.253594 0.3006 0.234661 0.3046 0.3261 0 D 0.0 P -0.891 T 0.001 T 0.0 T Pathogenic 17_3628362_T->C 17 3628362 3628362 T C snp 1323.77 0/1 99 115 58 57 0.5 exonic rs3809806 GSG2 AU nonsynonymous SNV NM_031965 exon1 c.T1133C p.V378A 0.53135 0.3353 0.575196 0.5145 0.3662 0 D 0.0 P -0.977 T 0.0 T 0.0 T Pathogenic 17_3629698_A->G 17 3629698 3629698 A G snp 1676.77 0/1 99 116 55 61 0.53 UTR3 rs170208 GSG2 AU 0.369409 0.3363 Uncertain 17_3632836_G->A 17 3632836 3632836 G A snp 1836.77 0/1 99 157 67 90 0.57 exonic rs1716 ITGAE AU nonsynonymous SNV NM_002208 exon24 c.C2848T p.R950W 0.265375 0.2956 0.252806 0.3172 0.3178 0.02 T 0.0 P -1.044 T 0.999 D 0.825 D ID=CM065287;DIS=Colorectal cancer, increased risk, association with;TAG=DP;PUB=17000706 DP Pathogenic 17_3632952_C->T 17 3632952 3632952 C T snp 419.77 0/1 99 20 7 13 0.65 intronic rs2915554 ITGAE AU NM_002208 exon8 c.14709+103C>T 0.250599 0.2956 Uncertain 17_3635645_A->G 17 3635645 3635645 A G snp 253.77 0/1 99 26 17 9 0.35 intronic rs170209 ITGAE AU NM_002208 exon10 c.17521-16A>G 0.457867 0.5427 0.486314 0.5393 0.5252 Uncertain 17_3638037_C->T 17 3638037 3638037 C T snp 429.77 0/1 99 27 12 15 0.56 intronic rs184335 ITGAE AU NM_002208 exon11 c.19970-73C>T 0.663938 0.5694 Uncertain 17_3638344_G->A 17 3638344 3638344 G A snp 2325.77 1/1 99 73 0 73 1.0 intronic rs9674606 ITGAE AU NM_002208 exon11 c.20103+101G>A 0.336861 0.3026 Uncertain 17_3649214_G->A 17 3649214 3649214 G A snp 2352.77 1/1 99 89 0 89 1.0 exonic rs1183610 ITGAE AU synonymous SNV NM_002208 exon18 c.C2163T p.R721R 0.715056 0.4524 0.830078 0.7253 0.4422 Uncertain 17_3653531_A->G 17 3653531 3653531 A G snp 389.77 0/1 99 23 8 15 0.65 intronic rs66703183 ITGAE AU NM_002208 exon16 c.35505-114A>G 0.127196 0.1627 Uncertain 17_3654980_A->G 17 3654980 3654980 A G snp 1694.77 0/1 99 135 64 71 0.53 exonic rs11652878 ITGAE AU synonymous SNV NM_002208 exon15 c.T1857C p.N619N 0.141374 0.1687 0.119330 0.1235 0.1693 Uncertain 17_3657159_C->T 17 3657159 3657159 C T snp 1354.77 0/1 99 130 69 61 0.47 exonic rs2272606 ITGAE AU nonsynonymous SNV NM_002208 exon13 c.G1445A p.R482Q 0.554313 0.2341 0.725434 0.6073 0.2146 0 D 0.0 P -0.975 T 0.783 T 0.058 P Pathogenic 17_3657175_T->C 17 3657175 3657175 T C snp 3395.77 1/1 99 124 0 124 1.0 exonic rs220479 ITGAE AU nonsynonymous SNV NM_002208 exon13 c.A1429G p.I477V 0.710264 0.4058 0.863601 0.7359 0.3869 1 T 0.0 P -1.005 T 0.001 T 0.002 T Pathogenic 17_3664477_-->ATT 17 3664477 3664477 - ATT indel 2875.73 0/1 99 91 39 52 0.57 splicing rs10687117 ITGAE AU NM_002208 exon26 c.46331+6insATT 0.270367 0.1815 0.357188 0.3654 0.1754 Pathogenic 17_3664975_A->G 17 3664975 3664975 A G snp 46.77 0/1 33 3 1 2 0.67 intronic rs220470 ITGAE AU NM_002208 exon27 c.46674+161A>G 0.586262 0.1915 Uncertain 17_3665116_A->G 17 3665116 3665116 A G snp 547.77 0/1 99 38 16 22 0.58 intronic rs8080482 ITGAE AU NM_002208 exon28 c.47068-92A>G 0.492412 0.1815 Uncertain 17_3665160_C->G 17 3665160 3665160 C G snp 970.77 0/1 99 77 33 44 0.57 intronic rs220471 ITGAE AU NM_002208 exon28 c.47068-48C>G 0.561701 0.1875 0.739659 0.6091 0.1804 Uncertain 17_3687533_A->G 17 3687533 3687533 A G snp 59.74 1/1 6 3 0 3 1.0 intronic rs55722017 ITGAE AU NM_002208 exon30 c.62814+6579A>G 0.384385 0.3571 Uncertain 17_3704483_G->A 17 3704483 3704483 G A snp 1758.77 0/1 99 142 68 74 0.52 UTR5 rs3809805 ITGAE AU 0.161741 0.2212 0.117330 0.1733 0.2348 Uncertain 17_3717896_A->T 17 3717896 3717896 A T snp 88.28 1/1 9 3 0 3 1.0 intronic rs9897428 C17orf85 AU NM_001114118 exon2 c.1440+119A>T 0.384784 0.5933 Uncertain 17_3769357_G->A 17 3769357 3769357 G A snp 570.77 0/1 99 54 31 23 0.43 intronic rs2567875 CAMKK1 AU NM_172206 exon2 c.3801+52G>A 0.35024 0.3929 0.367024 0.3437 0.4092 Uncertain 17_3769379_G->A 17 3769379 3769379 G A snp 433.77 0/1 99 35 19 16 0.46 intronic rs2567874 CAMKK1 AU NM_172206 exon2 c.3801+74G>A 0.323283 0.3929 Uncertain 17_3769407_C->T 17 3769407 3769407 C T snp 138.77 0/1 99 14 9 5 0.36 intronic rs2532946 CAMKK1 AU NM_172206 exon2 c.3801+102C>T 0.35004 0.3929 Uncertain 17_3776555_T->C 17 3776555 3776555 T C snp 2413.77 1/1 99 80 0 80 1.0 intronic rs34231122 CAMKK1 AU NM_172206 exon6 c.11198-147T>C 0.461661 0.4147 Uncertain 17_3776867_C->T 17 3776867 3776867 C T snp 1318.77 1/1 96 38 0 38 1.0 intronic rs9904678 CAMKK1 AU NM_172206 exon6 c.11252+111C>T 0.641174 0.8095 Uncertain 17_3788841_C->A 17 3788841 3788841 C A snp 1667.77 0/1 99 146 77 69 0.47 exonic CAMKK1 AU synonymous SNV NM_032294 exon2 c.G141T p.R47R Uncertain 17_3801080_C->T 17 3801080 3801080 C T snp 36.77 0/1 65 13 9 4 0.31 UTR3 rs711174 P2RX1 AU 0.178315 0.0784 0.315777 0.2849 0.0733 Uncertain 17_3806794_C->G 17 3806794 3806794 C G snp 3003.77 0/1 99 237 108 129 0.54 intronic rs2074990 P2RX1 AU NM_002558 exon7 c.5737-50C>G 0.313498 0.499 0.242042 0.3349 0.5111 Uncertain 17_3807044_T->C 17 3807044 3807044 T C snp 791.77 0/1 99 45 16 29 0.64 intronic rs740794 P2RX1 AU NM_002558 exon7 c.5818+119T>C 0.58107 0.627 Uncertain 17_3808032_A->G 17 3808032 3808032 A G snp 516.77 0/1 99 40 20 20 0.5 intronic rs2074989 P2RX1 AU NM_002558 exon10 c.7044-119A>G 0.551318 0.622 Uncertain 17_3808254_T->G 17 3808254 3808254 T G snp 40.77 0/1 69 34 24 10 0.29 intronic P2RX1 AU NM_002558 exon10 c.7116+31T>G Uncertain 17_3808497_A->G 17 3808497 3808497 A G snp 1151.77 0/1 99 87 42 45 0.52 intronic rs12449598 P2RX1 AU NM_002558 exon11 c.7406-16A>G 0.360224 0.499 0.258957 0.3471 0.5025 Uncertain 17_3808498_A->C 17 3808498 3808498 A C snp 1163.77 0/1 99 87 42 45 0.52 intronic rs12449599 P2RX1 AU NM_002558 exon11 c.7406-15A>C 0.360224 0.499 0.257573 0.3471 0.5027 Uncertain 17_3808713_T->C 17 3808713 3808713 T C snp 1301.77 0/1 99 115 60 55 0.48 intronic rs2074988 P2RX1 AU NM_002558 exon11 c.7554+52T>C 0.584864 0.62 0.489684 0.4762 0.6243 Uncertain 17_3818443_G->A 17 3818443 3818443 G A snp 44.74 1/1 6 2 0 2 1.0 intronic rs938628 P2RX1 AU NM_002558 exon12 c.18275-939G>A 0.771565 0.9385 Uncertain 17_3818620_T->C 17 3818620 3818620 T C snp 2530.77 0/1 99 234 123 111 0.47 intronic rs10852862 P2RX1 AU NM_002558 exon12 c.18275-762T>C 0.771565 0.9385 0.7571 0.9535 Uncertain 17_3818788_G->A 17 3818788 3818788 G A snp 2019.77 0/1 99 165 85 80 0.48 intronic rs2875751 P2RX1 AU NM_002558 exon12 c.18275-594G>A 0.76857 0.9385 0.7671 0.9567 Uncertain 17_3818830_A->G 17 3818830 3818830 A G snp 2130.77 0/1 99 188 103 85 0.45 intronic rs2325788 P2RX1 AU NM_002558 exon12 c.18275-552A>G 0.772364 0.9385 0.7694 0.9563 Uncertain 17_3819002_T->C 17 3819002 3819002 T C snp 2241.77 0/1 99 161 72 89 0.55 intronic rs11078475 P2RX1 AU NM_002558 exon12 c.18275-380T>C 0.519369 0.8165 0.5792 0.7991 Uncertain 17_3828086_C->G 17 3828086 3828086 C G snp 1647.77 0/1 99 173 99 74 0.43 UTR3 rs1043246 ATP2A3 AU 0.20607 0.4702 0.1865 0.4596 0 D 0.115 P -0.977 T Uncertain 17_3828702_T->C 17 3828702 3828702 T C snp 929.77 0/1 99 102 58 44 0.43 UTR3 rs887387 ATP2A3 AU 0.286342 0.2857 0.326388 0.3520 0.2829 Uncertain 17_3828822_C->T 17 3828822 3828822 C T snp 446.77 0/1 99 59 40 19 0.32 intronic rs1076902 ATP2A3 AU NM_005173 exon1 c.20+87C>T 0.126997 0.2649 Uncertain 17_3832182_G->A 17 3832182 3832182 G A snp 684.77 0/1 99 51 26 25 0.49 intronic rs9747965 ATP2A3 AU NM_005173 exon2 c.3359+108G>A 0.36262 0.4861 Uncertain 17_3833563_G->A 17 3833563 3833563 G A snp 1660.77 0/1 99 121 47 74 0.61 intronic rs12453032 ATP2A3 AU NM_005173 exon4 c.4879-31G>A 0.184904 0.4871 0.074466 0.1458 0.5 Uncertain 17_3838626_T->C 17 3838626 3838626 T C snp 507.77 0/1 99 35 16 19 0.54 intronic rs2074991 ATP2A3 AU NM_005173 exon5 c.9856+55T>C 0.202676 0.5089 0.093517 Uncertain 17_3856615_A->G 17 3856615 3856615 A G snp 1237.77 0/1 99 121 65 56 0.46 intronic rs1800915 ATP2A3 AU NM_005173 exon19 c.27925-25A>G 0.54373 0.4276 0.602030 0.5525 0.4576 Uncertain 17_3985832_A->G 17 3985832 3985832 A G snp 5181.77 1/1 99 188 0 188 1.0 intronic rs2727061 ZZEF1 AU NM_015113 exon39 c.75615+34A>G 0.52476 0.752 0.478933 0.5923 0.7514 Uncertain 17_3989669_G->A 17 3989669 3989669 G A snp 741.77 1/1 57 24 0 24 1.0 intronic rs4790166 ZZEF1 AU NM_015113 exon41 c.79596-110G>A 0.848842 0.9117 Uncertain 17_3989968_C->T 17 3989968 3989968 C T snp 611.77 1/1 45 20 0 20 1.0 intronic rs2727060 ZZEF1 AU NM_015113 exon41 c.79766+19C>T 0.528754 0.752 0.480237 0.5903 0.7450 Uncertain 17_3994170_T->C 17 3994170 3994170 T C snp 2514.77 1/1 99 82 0 82 1.0 intronic rs2727075 ZZEF1 AU NM_015113 exon44 c.83941+46T>C 0.528554 0.752 0.481086 0.5936 0.7477 Uncertain 17_4005770_T->C 17 4005770 4005770 T C snp 4223.77 1/1 99 156 0 156 1.0 intronic rs1869493 ZZEF1 AU NM_015113 exon47 c.95526+61T>C 0.953474 1 Uncertain 17_4007875_C->T 17 4007875 4007875 C T snp 139.03 1/1 12 5 0 5 1.0 intronic rs9907500 ZZEF1 AU NM_015113 exon48 c.97743-51C>T 0.909944 1 0.908266 Uncertain 17_4027036_C->G 17 4027036 4027036 C G snp 133.03 1/1 12 4 0 4 1.0 intronic rs11078481 ZZEF1 AU NM_015113 exon54 c.117017-164C>G 0.796326 1 Uncertain 17_4027392_G->C 17 4027392 4027392 G C snp 600.77 1/1 45 19 0 19 1.0 intronic rs7208760 ZZEF1 AU NM_015113 exon54 c.117162+47G>C 0.910144 1 0.898662 0.9722 1 Uncertain 17_4045809_T->C 17 4045809 4045809 T C snp 2232.77 1/1 99 73 0 73 1.0 intronic rs4239043 ZZEF1 AU NM_015113 exon55 c.135652-26T>C 0.967053 1 0.964178 0.9910 1 Uncertain 17_4046101_A->G 17 4046101 4046101 A G snp 2253.77 1/1 99 86 0 86 1.0 exonic rs1454121 ZZEF1 AU nonsynonymous SNV NM_015113 exon1 c.T89C p.V30A 0.804313 1 0.8454 1 0.23 T 0.0 P -1.028 T 0.0 T 0.0 T Pathogenic 17_4046270_T->C 17 4046270 4046270 T C snp 1059.77 1/1 75 40 0 40 1.0 upstream rs1454122 CYB5D2 AU 0.952875 1 Uncertain 17_4060482_G->T 17 4060482 4060482 G T snp 50.74 1/1 6 2 0 2 1.0 UTR3 rs1049523 CYB5D2 AU 0.673323 0.9306 Uncertain 17_4071302_G->C 17 4071302 4071302 G C snp 792.77 1/1 60 22 0 22 1.0 intronic rs4790583 ANKFY1 AU NM_001257999 exon1 c.133+97G>C 0.608227 0.7718 Uncertain 17_4071326_C->G 17 4071326 4071326 C G snp 368.77 1/1 30 10 0 10 1.0 intronic rs4790178 ANKFY1 AU NM_001257999 exon1 c.133+121C>G 0.514177 0.7589 Uncertain 17_4074261_A->C 17 4074261 4074261 A C snp 687.77 1/1 51 19 0 19 1.0 intronic rs897030 ANKFY1 AU NM_001257999 exon3 c.3083+106A>C 0.995208 1 Uncertain 17_4077485_G->A 17 4077485 4077485 G A snp 95.28 1/1 9 4 0 4 1.0 intronic rs4790585 ANKFY1 AU NM_001257999 exon6 c.6279+134G>A 0.942093 1 Uncertain 17_4088291_C->T 17 4088291 4088291 C T snp 3637.77 1/1 99 119 0 119 1.0 exonic rs2020118 ANKFY1 AU synonymous SNV NM_001257999 exon12 c.G1647A p.T549T 0.774361 0.9534 0.792389 0.8652 0.9398 Uncertain 17_4098573_-->T 17 4098573 4098573 - T indel 2696.73 1/1 99 99 2 97 0.98 intronic rs397807636 ANKFY1 AU NM_001257999 exon16 c.27400+101insT 0.815695 0.9712 Uncertain 17_4100591_C->T 17 4100591 4100591 C T snp 90.28 1/1 9 3 0 3 1.0 intronic rs6502773 ANKFY1 AU NM_001257999 exon18 c.29595-76C>T 0.848842 0.9821 Uncertain 17_4166804_C->T 17 4166804 4166804 C T snp 3783.77 1/1 99 132 0 132 1.0 intronic rs2325881 ANKFY1 AU NM_001257999 exon25 c.95817-85C>T 0.547125 0.7966 Uncertain 17_4192402_ACAC->- 17 4192402 4192405 ACAC - indel 1057.73 1/1 54 18 0 18 1.0 intronic rs148114489 UBE2G1 AU NM_003342 exon3 c.6395-122_6395-119delACAC Uncertain 17_4402803_T->C 17 4402803 4402803 T C snp 562.77 1/1 42 18 0 18 1.0 intronic rs184566 SPNS2 AU NM_001124758 exon1 c.370+91T>C 0.999201 1 Uncertain 17_4436005_T->C 17 4436005 4436005 T C snp 2695.77 1/1 99 94 2 92 0.98 intronic rs9892232 SPNS2 AU NM_001124758 exon6 c.33637+26T>C 0.988618 1 0.993592 0.9975 0.9999 Uncertain 17_4436869_C->T 17 4436869 4436869 C T snp 181.77 0/1 99 12 6 6 0.5 intronic rs73335843 SPNS2 AU NM_001124758 exon8 c.34385+142C>T 0.253195 0.5367 Uncertain 17_4436897_G->A 17 4436897 4436897 G A snp 135.77 0/1 99 15 10 5 0.33 intronic rs12949158 SPNS2 AU NM_001124758 exon8 c.34385+170G>A 0.403355 0.4206 Uncertain 17_4437214_C->T 17 4437214 4437214 C T snp 916.77 0/1 99 87 44 43 0.49 intronic rs4790202 SPNS2 AU NM_001124758 exon9 c.34806+66C>T 0.408546 0.4236 0.442375 Uncertain 17_4439282_G->A 17 4439282 4439282 G A snp 197.82 0/1 19 8 1 7 0.88 intronic rs11078514 SPNS2 AU NM_001124758 exon10 c.37028-88G>A 0.236422 0.5565 Uncertain 17_4439313_A->G 17 4439313 4439313 A G snp 632.77 1/1 48 22 0 22 1.0 intronic rs1077200 SPNS2 AU NM_001124758 exon10 c.37028-57A>G 0.980431 0.997 Uncertain 17_4439496_C->A 17 4439496 4439496 C A snp 820.77 0/1 99 162 123 39 0.24 intronic rs143421804 SPNS2 AU NM_001124758 exon10 c.37127+27C>A 0.19389 0.3968 0.1967 0.4879 Uncertain 17_4439497_A->G 17 4439497 4439497 A G snp 816.77 0/1 99 166 128 38 0.23 intronic rs12945732 SPNS2 AU NM_001124758 exon10 c.37127+28A>G 0.372404 0.4395 0.4815 0.5378 Uncertain 17_4439501_C->G 17 4439501 4439501 C G snp 4893.77 1/1 99 169 0 169 1.0 intronic rs1076071 SPNS2 AU NM_001124758 exon10 c.37127+32C>G 0.961861 1 0.973244 0.9876 0.9998 Uncertain 17_4439512_A->G 17 4439512 4439512 A G snp 1283.77 0/1 99 195 137 58 0.3 intronic rs11658114 SPNS2 AU NM_001124758 exon10 c.37127+43A>G 0.34984 0.5466 0.295508 0.3373 0.5216 Uncertain 17_4439515_G->T 17 4439515 4439515 G T snp 1343.77 0/1 99 199 140 59 0.3 intronic rs9908450 SPNS2 AU NM_001124758 exon11 c.37215-42G>T 0.328474 0.5099 0.253256 0.3137 0.4774 Uncertain 17_4439532_T->C 17 4439532 4439532 T C snp 6922.77 1/1 99 246 0 246 1.0 intronic rs1076072 SPNS2 AU NM_001124758 exon11 c.37215-25T>C 0.732628 0.9683 0.654078 0.7218 0.9700 Uncertain 17_4439623_C->T 17 4439623 4439623 C T snp 2349.77 0/1 99 248 144 104 0.42 exonic rs147208913 SPNS2 AU synonymous SNV NM_001124758 exon11 c.C1509T p.Y503Y 0.00698882 0.0298 0.000097 0.0027 0.0241 Uncertain 17_4439731_-->A 17 4439731 4439731 - A indel 991.73 0/1 99 76 48 28 0.37 intronic rs148088156 SPNS2 AU NM_001124758 exon11 c.37379+10insA 0.1344 0.4062 Uncertain 17_4439828_A->C 17 4439828 4439828 A C snp 152.98 0/1 13 6 1 5 0.83 intronic rs747256 SPNS2 AU NM_001124758 exon11 c.37379+107A>C 0.229034 0.2629 Uncertain 17_4440907_A->G 17 4440907 4440907 A G snp 2761.77 0/1 99 249 135 114 0.46 UTR3 rs34901192 SPNS2 AU 0.357428 0.4286 0.4253 0.3838 Uncertain 17_4441309_C->A 17 4441309 4441309 C A snp 1186.77 0/1 99 87 47 40 0.46 UTR3 rs10521140 SPNS2 AU 0.22484 0.5417 Uncertain 17_4443470_T->C 17 4443470 4443470 T C snp 230.77 0/1 88 10 3 7 0.7 intronic rs12162152 MYBBP1A AU NM_014520 exon2 c.933-172T>C 0.308906 0.5714 Uncertain 17_4444635_G->C 17 4444635 4444635 G C snp 153.77 0/1 51 7 2 5 0.71 intronic rs12450708 MYBBP1A AU NM_014520 exon3 c.2048-122G>C 0.451078 0.5397 Uncertain 17_4446457_G->A 17 4446457 4446457 G A snp 1211.77 0/1 99 96 46 50 0.52 exonic rs751670 MYBBP1A AU synonymous SNV NM_001105538 exon20 c.C2643T p.H881H 0.232628 0.5496 0.118901 0.2060 0.5512 Uncertain 17_4448853_C->T 17 4448853 4448853 C T snp 119.77 0/1 99 13 5 8 0.62 intronic rs2306267 MYBBP1A AU NM_014520 exon12 c.6195-51C>T 0.35004 0.2004 0.517115 Uncertain 17_4451453_C->T 17 4451453 4451453 C T snp 2854.77 0/1 99 250 132 118 0.47 exonic rs56716962 MYBBP1A AU nonsynonymous SNV NM_001105538 exon12 c.G1709A p.R570H 0.0886581 0.3433 0.006843 0.0424 0.3419 0.11 T 0.899 P -1.058 T 1.0 D 0.987 D Pathogenic 17_4455166_A->G 17 4455166 4455166 A G snp 1490.77 1/1 99 50 0 50 1.0 intronic rs3816686 MYBBP1A AU NM_014520 exon19 c.12465-8A>G 0.291933 0.5605 0.178099 0.2465 0.5495 Uncertain 17_4455500_T->C 17 4455500 4455500 T C snp 6352.77 1/1 99 233 0 233 1.0 exonic rs7206974 MYBBP1A AU synonymous SNV NM_001105538 exon7 c.A825G p.A275A 0.992812 1 0.990620 0.9977 1 Uncertain 17_4458029_T->A 17 4458029 4458029 T A snp 192.84 1/1 18 7 0 7 1.0 intronic rs6502797 MYBBP1A AU NM_014520 exon25 c.15446-126T>A 0.990216 1 Uncertain 17_4458302_C->A 17 4458302 4458302 C A snp 6750.77 1/1 99 244 4 240 0.98 intronic rs1871348 MYBBP1A AU NM_014520 exon25 c.15542+51C>A 0.78135 0.8948 0.765267 0.7997 0.9084 Uncertain 17_4458314_C->T 17 4458314 4458314 C T snp 7667.77 1/1 99 246 0 246 1.0 intronic rs1871347 MYBBP1A AU NM_014520 exon25 c.15542+63C>T Uncertain 17_4461748_G->A 17 4461748 4461748 G A snp 2763.77 1/1 99 87 0 87 1.0 exonic rs7215121 GGT6 AU stopgain NM_001288704 exon3 c.C358T p.R120X 0.496805 0.7421 0.382575 0.4423 0.7120 Pathogenic 17_4463023_G->A 17 4463023 4463023 G A snp 1414.77 1/1 99 52 0 52 1.0 exonic rs11657054 GGT6 AU nonsynonymous SNV NM_001122890 exon2 c.C173T p.A58V 0.755391 0.8909 0.743334 0.7666 0.9147 0.05 T 1.000 P -1.097 T 0.86 T 0.453 P Pathogenic 17_4488414_C->G 17 4488414 4488414 C G snp 56.74 1/1 6 2 0 2 1.0 intronic rs872980 SMTNL2 AU NM_001114974 exon1 c.399+115C>G 0.346446 0.4544 Uncertain 17_4495740_G->A 17 4495740 4495740 G A snp 1250.77 1/1 93 49 0 49 1.0 exonic rs12449695 SMTNL2 AU nonsynonymous SNV NM_001114974 exon2 c.G484A p.A162T 0.331869 0.5813 0.246271 0.3378 0.6049 0.31 T 0.000 P -0.934 T 0.038 T 0.006 T Pathogenic 17_4497160_T->C 17 4497160 4497160 T C snp 3316.77 1/1 99 126 0 126 1.0 exonic rs8080130 SMTNL2 AU synonymous SNV NM_001114974 exon4 c.T774C p.Y258Y 0.682708 0.8462 0.619791 0.6834 0.8744 Uncertain 17_4498682_C->G 17 4498682 4498682 C G snp 443.77 1/1 33 15 0 15 1.0 intronic rs4790655 SMTNL2 AU NM_198501 exon5 c.2934+60C>G 0.946086 0.9385 Uncertain 17_4500304_C->T 17 4500304 4500304 C T snp 1684.77 1/1 99 66 0 66 1.0 intronic rs72634012 SMTNL2 AU NM_198501 exon6 c.4584+32C>T 0.285144 0.5813 0.163413 0.3536 0.6423 Uncertain 17_4500700_G->A 17 4500700 4500700 G A snp 1146.77 0/1 99 93 55 38 0.41 intronic rs77390201 SMTNL2 AU NM_198501 exon7 c.4930+82G>A 0.00638978 0.0317 Uncertain 17_4510600_-->T 17 4510600 4510600 - T indel 6042.73 1/1 99 144 0 144 1.0 intronic rs11374633 SMTNL2 AU NM_198501 exon8 c.14967-55insT 0.236222 0.506 Uncertain 17_4535385_A->G 17 4535385 4535385 A G snp 7477.77 1/1 99 242 0 242 1.0 intronic rs2619112 ALOX15 AU NM_001140 exon2 c.457+34A>G 0.552316 0.5625 0.536522 0.5339 0.5804 Uncertain 17_4535413_T->C 17 4535413 4535413 T C snp 6545.77 1/1 99 220 0 220 1.0 intronic rs6502804 ALOX15 AU NM_001140 exon3 c.581-62T>C 0.532348 0.5129 Uncertain 17_4540704_T->- 17 4540704 4540704 T - indel 180.73 0/1 99 31 6 25 0.81 intronic rs76563019 ALOX15 AU NM_001140 exon8 c.5659+151delT Uncertain 17_4541744_T->C 17 4541744 4541744 T C snp 57.77 0/1 86 8 5 3 0.38 intronic rs899452 ALOX15 AU NM_001140 exon9 c.6778+72T>C 0.874601 0.8512 Uncertain 17_4542548_C->T 17 4542548 4542548 C T snp 516.77 0/1 99 44 23 21 0.48 intronic rs11568100 ALOX15 AU NM_001140 exon12 c.7533+121C>T 0.0461262 0.1468 Uncertain 17_4544641_G->A 17 4544641 4544641 G A snp 188.77 0/1 99 19 10 9 0.47 intronic rs11568075 ALOX15 AU NM_001140 exon14 c.9917-170G>A 0.115615 0.1498 Uncertain 17_4544729_A->G 17 4544729 4544729 A G snp 2025.77 1/1 99 73 0 73 1.0 intronic rs9906597 ALOX15 AU NM_001140 exon14 c.9917-82A>G 0.995807 1 Uncertain 17_4544978_-->AGA 17 4544978 4544978 - AGA indel 2888.73 1/1 99 56 0 56 1.0 upstream rs369435246 ALOX15 AU 0.849641 0.9534 0.9703 0.9999 Uncertain 17_4545581_C->T 17 4545581 4545581 C T snp 2409.77 1/1 99 92 0 92 1.0 upstream rs2255888 ALOX15 AU 0.741014 0.9861 0.8555 0.9789 ID=CR088432;DIS=Carotid plaque, in coronary heart disease, association with;TAG=DFP;PUB=18392641 DFP Uncertain 17_4575283_A->G 17 4575283 4575283 A G snp 1309.77 1/1 93 44 0 44 1.0 exonic rs3862485 PELP1 AU synonymous SNV NM_014389 exon16 c.T3153C p.P1051P 0.842252 1 0.836673 0.9229 0.9989 Uncertain 17_4577112_G->A 17 4577112 4577112 G A snp 874.77 1/1 63 29 0 29 1.0 intronic rs11658808 PELP1 AU NM_014389 exon4 c.2236+143G>A 0.745607 0.997 Uncertain 17_4578007_C->G 17 4578007 4578007 C G snp 7177.77 1/1 99 250 1 249 1.0 intronic rs4790673 PELP1 AU NM_014389 exon5 c.3231+43C>G 0.957069 1 0.955458 0.9870 1 Uncertain 17_4579638_G->A 17 4579638 4579638 G A snp 2327.77 1/1 99 81 0 81 1.0 intronic rs8071990 PELP1 AU NM_014389 exon11 c.4918-13G>A 0.745407 0.997 0.642421 0.7521 0.9986 Uncertain 17_4580137_A->G 17 4580137 4580137 A G snp 2192.77 1/1 99 87 1 86 0.99 intronic rs6502806 PELP1 AU NM_014389 exon12 c.5374+30A>G 0.976637 0.999 0.978939 0.9931 1 Uncertain 17_4580224_C->T 17 4580224 4580224 C T snp 1039.77 1/1 75 35 0 35 1.0 intronic rs11078530 PELP1 AU NM_014389 exon12 c.5374+117C>T 0.892572 1 Uncertain 17_4586254_A->- 17 4586254 4586254 A - indel 1195.73 1/1 99 37 0 37 1.0 intronic rs34352526 PELP1 AU NM_014389 exon14 c.11514+7delA 0.958267 1 0.954640 0.9869 1 Uncertain 17_4594847_T->C 17 4594847 4594847 T C snp 1501.77 1/1 99 45 0 45 1.0 intronic rs7226084 PELP1 AU NM_014389 exon16 c.20004+110T>C 0.976837 1 Uncertain 17_4620367_G->A 17 4620367 4620367 G A snp 291.77 0/1 99 21 10 11 0.52 intronic rs139976852 ARRB2 AU NM_199004 exon5 c.6495-144G>A 0.00119808 0.006 Uncertain 17_4620497_C->T 17 4620497 4620497 C T snp 3733.77 1/1 99 141 0 141 1.0 intronic rs7208257 ARRB2 AU NM_199004 exon5 c.6495-14C>T 0.91873 1 0.901046 0.9364 0.9990 Uncertain 17_4621773_T->G 17 4621773 4621773 T G snp 96.28 1/1 9 4 0 4 1.0 intronic rs4522461 ARRB2 AU NM_199004 exon9 c.7890-133T>G 0.90016 0.997 Uncertain 17_4622071_C->G 17 4622071 4622071 C G snp 1160.77 1/1 87 37 0 37 1.0 intronic rs2036656 ARRB2 AU NM_001257329 exon11 c.7967+88C>G 0.670927 0.8264 Uncertain 17_4622638_C->T 17 4622638 4622638 C T snp 5749.77 1/1 99 212 0 212 1.0 exonic rs1045280 ARRB2 AU synonymous SNV NM_001257328 exon11 c.C903T p.S301S 0.669529 0.8254 0.599493 0.7048 0.8100 Uncertain 17_4637886_G->A 17 4637886 4637886 G A snp 2032.77 1/1 99 68 0 68 1.0 UTR3 rs1051009 CXCL16 AU 0.295327 0.4752 0.254190 0.3439 0.5051 Uncertain 17_4638010_T->G 17 4638010 4638010 T G snp 4678.77 1/1 99 177 1 176 0.99 intronic rs3744700 CXCL16 AU NM_001100812 exon1 c.47+63T>G 0.746406 0.8849 0.632939 ID=CS102618;DIS=Coronary heart disease, increased risk, association with;TAG=DP;PUB=19954776 DP Uncertain 17_4638484_T->C 17 4638484 4638484 T C snp 2770.77 1/1 99 95 0 95 1.0 exonic rs1876444 CXCL16 AU synonymous SNV NM_022059 exon4 c.A678G p.P226P 0.530751 0.5933 0.506151 0.5576 0.5873 Uncertain 17_4638563_G->A 17 4638563 4638563 G A snp 4013.77 1/1 99 145 0 145 1.0 exonic rs2277680 CXCL16 AU nonsynonymous SNV NM_022059 exon4 c.C599T p.A200V 0.461462 0.5804 0.394664 0.4612 0.5830 0.46 T 0.0 P -0.928 T 0.0 T 0.004 T ID=CM057933;DIS=Atherosclerotic stenosis, increased severity, association with;TAG=DP;PUB=15836657 DP Pathogenic 17_4638737_A->G 17 4638737 4638737 A G snp 3307.77 1/1 99 120 0 120 1.0 exonic rs1050998 CXCL16 AU nonsynonymous SNV NM_022059 exon4 c.T425C p.I142T 0.463259 0.5883 0.394741 0.4574 0.5876 0.43 T 0.0 P -0.994 T 0.002 T 0.003 T Pathogenic 17_4641755_C->T 17 4641755 4641755 C T snp 1389.77 1/1 63 56 1 55 0.98 exonic rs1050997 CXCL16 AU synonymous SNV NM_022059 exon3 c.G306A p.G102G 0.624002 0.6944 0.666154 0.7082 0.6892 Uncertain 17_4642069_A->G 17 4642069 4642069 A G snp 5305.77 1/1 99 190 1 189 0.99 intronic rs2250333 CXCL16 AU NM_001100812 exon4 c.4176-7A>G 0.674521 0.7034 0.737429 0.7565 0.6951 Uncertain 17_4642787_C->A 17 4642787 4642787 C A snp 164.9 1/1 15 6 0 6 1.0 UTR5 rs2304970 CXCL16 AU 0.579473 0.5903 Uncertain 17_4644491_A->G 17 4644491 4644491 A G snp 482.77 1/1 36 16 0 16 1.0 intronic rs9903643 ZMYND15 AR NM_001267822 exon2 c.592+56A>G 0.902955 0.9673 Uncertain 17_4645994_C->A 17 4645994 4645994 C A snp 50.74 1/1 6 2 0 2 1.0 intronic rs4790698 ZMYND15 AR NM_001267822 exon5 c.1943+208C>A 0.398363 0.4613 Uncertain 17_4646480_C->T 17 4646480 4646480 C T snp 422.77 1/1 36 16 0 16 1.0 intronic rs12451720 ZMYND15 AR NM_001267822 exon6 c.2754-117C>T 0.672524 0.6389 Uncertain 17_4646533_-->AA 17 4646533 4646533 - AA indel 587.74 1/1 30 33 1 32 0.97 intronic rs369534237 ZMYND15 AR NM_001267822 exon6 c.2754-64insAA 0.388778 0.4623 Uncertain 17_4647002_A->G 17 4647002 4647002 A G snp 2211.77 1/1 99 79 0 79 1.0 intronic rs8082690 ZMYND15 AR NM_001267822 exon7 c.3218-59A>G 0.688898 0.6081 0.674770 Uncertain 17_4648262_T->G 17 4648262 4648262 T G snp 3284.77 1/1 99 117 0 117 1.0 intronic rs58866259 ZMYND15 AR NM_001267822 exon12 c.4380+39T>G 0.200679 0.376 0.133016 0.1168 0.4081 Uncertain 17_4686340_T->G 17 4686340 4686340 T G snp 4080.77 1/1 99 135 0 135 1.0 intronic rs3853643 TM4SF5 AU NM_003963 exon4 c.11115+8T>G 0.984625 1 0.983930 0.9958 1 Uncertain 17_4686341_T->G 17 4686341 4686341 T G snp 4111.77 1/1 99 135 0 135 1.0 intronic rs3853644 TM4SF5 AU NM_003963 exon4 c.11115+9T>G 0.984625 1 0.984007 0.9958 1 Uncertain 17_4686414_A->C 17 4686414 4686414 A C snp 971.77 0/1 99 72 37 35 0.49 exonic rs3851 TM4SF5 AU synonymous SNV NM_003963 exon5 c.A585C p.T195T 0.409744 0.4504 0.367907 0.4212 0.4219 Uncertain 17_4689195_C->- 17 4689195 4689195 C - indel 2754.73 0/1 99 116 42 74 0.64 splicing rs3215170 VMO1 AU NM_182566 exon2 c.575-36delC 0.425719 0.4514 0.378994 0.4705 0.4404 Pathogenic 17_4689313_G->C 17 4689313 4689313 G C snp 2512.77 0/1 99 250 146 104 0.42 exonic rs2279961 VMO1 AU nonsynonymous SNV NM_001144939 exon2 c.C230G p.T77S 0.0946486 0.0992 0.112640 0.1043 0.1055 0.02 T 1.0 P -0.929 T 1.0 D 1.0 D Pathogenic 17_4689572_T->C 17 4689572 4689572 T C snp 5936.77 1/1 99 222 0 222 1.0 exonic rs4790706 VMO1 AU nonsynonymous SNV NM_001144939 exon1 c.A76G p.T26A 0.533546 0.5516 0.503384 0.5720 0.5387 0.6 T 0.0 P -0.946 T 0.0 T 0.0 T Pathogenic 17_4692559_G->T 17 4692559 4692559 G T snp 3371.77 1/1 99 125 0 125 1.0 exonic rs2304969 GLTPD2 AU nonsynonymous SNV NM_001014985 exon2 c.G145T p.V49F 0.273562 0.506 0.142670 0.2605 0.5129 0.04 T 0.0 P -0.926 T 0.866 T 0.364 P Pathogenic 17_4693170_T->C 17 4693170 4693170 T C snp 1886.77 1/1 99 63 0 63 1.0 exonic rs34850425 GLTPD2 AU nonsynonymous SNV NM_001014985 exon4 c.T455C p.V152A 0.989018 1 0.991133 0.9977 1 0.74 T 0.0 P -1.024 T 0.0 T 0.0 T Pathogenic 17_4693342_C->A 17 4693342 4693342 C A snp 1243.77 1/1 90 48 0 48 1.0 exonic rs35910358 GLTPD2 AU nonsynonymous SNV NM_001014985 exon4 c.C627A p.D209E 0.979233 1 0.991148 0.9963 1 0.63 T 0.0 P -0.982 T 0.064 T 0.133 T Pathogenic 17_4693508_G->C 17 4693508 4693508 G C snp 1910.77 1/1 99 73 0 73 1.0 exonic rs34421346 GLTPD2 AU nonsynonymous SNV NM_001014985 exon4 c.G793C p.V265L 0.979233 1 0.991737 0.9990 1 0.31 T 0.000 P -1.034 T 0.0 T 0.0 T Pathogenic 17_4699947_T->G 17 4699947 4699947 T G snp 1661.77 0/1 99 147 73 74 0.5 intronic rs2241933 PSMB6 AU NM_001270481 exon2 c.533-75T>G 0.782348 0.9216 Uncertain 17_4700621_A->G 17 4700621 4700621 A G snp 254.77 0/1 99 22 12 10 0.45 intronic rs60892224 PSMB6 AU NM_001270481 exon3 c.1243-111A>G 0.20647 0.4802 Uncertain 17_4701019_C->T 17 4701019 4701019 C T snp 1115.77 0/1 99 134 78 56 0.42 exonic rs2304975 PSMB6 AU synonymous SNV NM_001270481 exon4 c.C345T p.S115S 0.205072 0.4812 0.052284 0.1504 0.4610 Uncertain 17_4710957_G->T 17 4710957 4710957 G T snp 318.78 1/1 27 10 0 10 1.0 intronic rs3867173 PLD2 AU 0.686102 0.6329 Uncertain 17_4711798_C->T 17 4711798 4711798 C T snp 55.77 0/1 84 12 9 3 0.25 intronic rs2302327 PLD2 AU NM_002663 exon4 c.644+87C>T 0.207668 0.4871 Uncertain 17_4712617_C->T 17 4712617 4712617 C T snp 2299.77 0/1 99 194 95 99 0.51 exonic rs2286672 PLD2 AU nonsynonymous SNV NM_002663 exon6 c.C514T p.R172C 0.192292 0.4177 0.055052 0.1472 0.3967 0.05 T 0.971 P -0.962 T 0.006 T 0.003 T ID=CM109942;DIS=Hypertension, association with;TAG=DP;PUB=20147969 DP Pathogenic 17_4712757_G->A 17 4712757 4712757 G A snp 1552.77 0/1 99 133 70 63 0.47 intronic rs2286671 PLD2 AU NM_002663 exon7 c.1720-30G>A 0.39357 0.1488 0.550523 0.5529 0.1440 Uncertain 17_4713335_C->T 17 4713335 4713335 C T snp 437.77 0/1 99 38 19 19 0.5 intronic rs74909490 PLD2 AU NM_002663 exon9 c.2257+11C>T 0.00998403 0.0486 0.000384 0.0034 0.0450 Uncertain 17_4714021_-->GAAA 17 4714021 4714021 - GAAA indel 5007.73 1/1 99 76 0 76 1.0 intronic rs3081314 PLD2 AU NM_002663 exon10 c.3029-75insGAAA 0.95008 0.9603 Uncertain 17_4718776_G->A 17 4718776 4718776 G A snp 1890.77 1/1 99 75 0 75 1.0 exonic rs1132448 PLD2 AU synonymous SNV NM_002663 exon13 c.G1179A p.E393E 0.6252 0.6349 0.627018 0.7128 0.6205 Uncertain 17_4720131_C->G 17 4720131 4720131 C G snp 1932.77 0/1 99 151 70 81 0.54 intronic rs2302325 PLD2 AU NM_002663 exon15 c.8974+90C>G 0.517772 0.4067 Uncertain 17_4722299_T->C 17 4722299 4722299 T C snp 787.77 1/1 60 21 0 21 1.0 intronic rs2326097 PLD2 AU NM_002663 exon22 c.11311-79T>C 0.996406 1 Uncertain 17_4722606_G->A 17 4722606 4722606 G A snp 1501.77 0/1 99 97 46 51 0.53 intronic rs3764899 PLD2 AU NM_002663 exon22 c.11446+93G>A 0.442891 0.7133 Uncertain 17_4722619_G->- 17 4722619 4722619 G - indel 1615.73 0/1 99 89 39 50 0.56 intronic rs3835027 PLD2 AU NM_002663 exon23 c.11656-104delG 0.140575 0.3333 Uncertain 17_4722785_G->A 17 4722785 4722785 G A snp 2988.77 0/1 99 250 125 125 0.5 exonic rs1052751 PLD2 AU synonymous SNV NM_002663 exon23 c.G2370A p.L790L 0.120807 0.0427 0.151392 0.1426 0.0406 Uncertain 17_4722876_G->A 17 4722876 4722876 G A snp 1897.77 0/1 99 169 85 84 0.5 exonic rs3764897 PLD2 AU nonsynonymous SNV NM_002663 exon23 c.G2461A p.G821S 0.183307 0.1071 0.196909 0.1598 0.0950 0.41 T 1.0 P -0.955 T 0.0 T 0.0 T Pathogenic 17_4724936_T->G 17 4724936 4724936 T G snp 358.77 1/1 30 10 0 10 1.0 intronic rs4790233 PLD2 AU NM_002663 exon24 c.14020-151T>G 0.722444 0.9345 Uncertain 17_4724942_A->G 17 4724942 4724942 A G snp 450.77 1/1 36 12 0 12 1.0 intronic rs4790234 PLD2 AU NM_002663 exon24 c.14020-145A>G 0.723043 0.9345 Uncertain 17_4725211_T->C 17 4725211 4725211 T C snp 548.77 0/1 99 58 31 27 0.47 intronic rs79836609 PLD2 AU NM_002663 exon24 c.14135+9T>C 0.230431 0.501 0.079502 0.1679 0.4814 Uncertain 17_4725920_T->C 17 4725920 4725920 T C snp 457.77 0/1 99 28 12 16 0.57 intronic rs2875840 PLD2 AU NM_002663 exon25 c.14867-14T>C 0.298123 0.1379 0.328233 0.2441 0.1226 Uncertain 17_4736838_G->A 17 4736838 4736838 G A snp 574.77 0/1 99 49 24 25 0.51 UTR5 rs75987362 MINK1 AU 0.232827 0.5188 0.066562 0.2809 0.5222 Uncertain 17_4737042_T->C 17 4737042 4737042 T C snp 277.77 0/1 99 20 8 12 0.6 intronic rs75002361 MINK1 AU NM_015716 exon1 c.57+107T>C 0.350839 0.7599 Uncertain 17_4758174_C->A 17 4758174 4758174 C A snp 3755.77 1/1 99 139 0 139 1.0 intronic rs73341669 MINK1 AU NM_015716 exon1 c.57+21239C>A 0.970647 1 Uncertain 17_4758244_A->G 17 4758244 4758244 A G snp 612.77 0/1 99 39 16 23 0.59 intronic rs12602414 MINK1 AU NM_015716 exon1 c.57+21309A>G 0.229633 0.0685 Uncertain 17_4778487_G->A 17 4778487 4778487 G A snp 1127.77 0/1 99 95 48 47 0.49 intronic rs8078776 MINK1 AU NM_015716 exon2 c.44733-3124G>A 0.463059 0.1339 0.646299 Uncertain 17_4790801_-->C 17 4790801 4790801 - C indel 1493.73 0/1 99 69 28 41 0.59 intronic rs3214299 MINK1 AU NM_015716 exon12 c.53996-73insC 0.218251 0.506 Uncertain 17_4794492_C->T 17 4794492 4794492 C T snp 96.28 1/1 9 3 0 3 1.0 intronic rs2246656 MINK1 AU NM_015716 exon15 c.57541+73C>T 0.457468 0.1339 Uncertain 17_4795307_C->T 17 4795307 4795307 C T snp 2149.77 0/1 99 186 95 91 0.49 intronic rs2586532 MINK1 AU NM_015716 exon17 c.58565-136C>T 0.438498 0.1121 Uncertain 17_4795620_G->- 17 4795620 4795620 G - indel 492.73 1/1 36 31 3 28 0.9 intronic rs36079581 MINK1 AU NM_153827 exon18 c.58818-76delG Uncertain 17_4796274_T->C 17 4796274 4796274 T C snp 4456.77 1/1 99 176 0 176 1.0 exonic rs11556634 MINK1 AU nonsynonymous SNV NM_015716 exon19 c.T2201C p.V734A 0.706669 0.9266 0.529115 0.5484 0.8822 0.342 P -0.967 T 0.0 T 0.0 T Pathogenic 17_4796286_C->T 17 4796286 4796286 C T snp 4539.77 1/1 99 174 0 174 1.0 exonic rs11556635 MINK1 AU nonsynonymous SNV NM_015716 exon19 c.C2213T p.P738L 0.70028 0.9246 0.488488 0.5470 0.9001 0.27 T 0.008 P -0.971 T 0.0 T 0.0 T Pathogenic 17_4796441_G->C 17 4796441 4796441 G C snp 686.77 0/1 99 44 22 22 0.5 intronic rs77185535 MINK1 AU NM_015716 exon19 c.59484+79G>C 0.222045 0.5149 Uncertain 17_4796521_T->G 17 4796521 4796521 T G snp 1003.77 0/1 99 101 56 45 0.45 intronic rs3815382 MINK1 AU NM_170663 exon20 c.59702-59T>G 0.0623003 0.091546 Uncertain 17_4796656_T->C 17 4796656 4796656 T C snp 1910.77 0/1 99 144 67 77 0.53 intronic rs2302320 MINK1 AU NM_170663 exon20 c.59726+52T>C 0.310703 0.1855 0.303823 Uncertain 17_4797305_G->A 17 4797305 4797305 G A snp 2144.77 0/1 99 181 84 97 0.54 exonic rs2302319 MINK1 AU nonsynonymous SNV NM_015716 exon21 c.G2476A p.V826I 0.208666 0.5069 0.055956 0.2051 0.5430 0.04 T 0.833 P -0.972 T 0.0 T 0.001 T Pathogenic 17_4797718_C->T 17 4797718 4797718 C T snp 972.77 0/1 99 57 23 34 0.6 intronic rs2286668 MINK1 AU NM_015716 exon23 c.60941-101C>T 0.230032 0.0665 Uncertain 17_4799236_C->T 17 4799236 4799236 C T snp 1199.77 0/1 99 82 40 42 0.51 intronic rs2270158 MINK1 AU NM_015716 exon27 c.62419-61C>T 0.165935 0.0645 Uncertain 17_4799897_C->T 17 4799897 4799897 C T snp 2014.77 0/1 99 153 74 79 0.52 intronic rs2302318 MINK1 AU NM_015716 exon29 c.63005+14C>T 0.207069 0.5139 0.050359 0.1416 0.4887 Uncertain 17_4800290_C->T 17 4800290 4800290 C T snp 924.77 1/1 69 27 0 27 1.0 intronic rs2302317 MINK1 AU NM_015716 exon30 c.63230+182C>T 0.576478 0.8383 Uncertain 17_4800304_G->A 17 4800304 4800304 G A snp 1424.77 1/1 69 44 1 43 0.98 intronic rs2302316 MINK1 AU NM_015716 exon31 c.63620-194G>A 0.492612 0.6458 Uncertain 17_4801887_A->G 17 4801887 4801887 A G snp 258.8 1/1 21 7 0 7 1.0 UTR3 rs12936083 CHRNE AR,AD 0.584065 0.6905 Uncertain 17_4801970_G->A 17 4801970 4801970 G A snp 661.77 0/1 99 47 20 27 0.57 UTR3 rs12940036 CHRNE AR,AD 0.1877 0.0704 Uncertain 17_4802256_GCCTCTGCCTCGCTCCACCC->- 17 4802256 4802275 GCCTCTGCCTCGCTCCACCC - indel 25964.7 1/1 99 145 0 145 1.0 intronic rs147753790 CHRNE AR,AD NM_000080 exon2 c.265-39_265-20delGCCTCTGCCTCGCTCCACCC 0.055991 0.2696 0.5926 Uncertain 17_4802447_G->A 17 4802447 4802447 G A snp 3165.77 1/1 99 120 0 120 1.0 intronic rs75492003 CHRNE AR,AD NM_000080 exon3 c.462-45G>A 0.226038 0.5109 0.068264 0.1851 0.5242 Uncertain 17_4806249_C->T 17 4806249 4806249 C T snp 4283.77 1/1 99 151 0 151 1.0 intronic rs12602789 CHRNE AR,AD NM_000080 exon12 c.4282-63C>T 0.21905 0.5218 0.069645 Uncertain 17_4835852_A->T 17 4835852 4835852 A T snp 239.77 0/1 99 25 15 10 0.4 intronic rs81663 GP1BA AR,AD 0.177117 0.1042 0.265230 0.3016 0.1074 Uncertain 17_4837952_-->G 17 4837952 4837952 - G indel 199.8 1/1 18 9 0 9 1.0 UTR3 rs199616811 GP1BA AR,AD 0.999401 0.999 Uncertain 17_4845768_G->A 17 4845768 4845768 G A snp 1754.77 0/1 99 165 88 77 0.47 intronic rs238247 RNF167 AU NM_015528 exon4 c.1557+7G>A 0.322085 0.1478 0.478702 0.4763 0.1464 Uncertain 17_4849413_G->C 17 4849413 4849413 G C snp 40.77 0/1 69 54 40 14 0.26 intronic PFN1 AU NM_005022 exon1 c.98+121G>C Uncertain 17_4856376_A->G 17 4856376 4856376 A G snp 1283.77 0/1 99 96 42 54 0.56 exonic rs238238 ENO3 AR nonsynonymous SNV NM_053013 exon4 c.A212G p.N71S 0.564097 0.3988 0.669076 0.6493 0.3875 0.24 T 0.021 P -1.022 T 0.0 T 0.001 T Pathogenic 17_4856580_T->C 17 4856580 4856580 T C snp 2943.77 0/1 99 239 108 131 0.55 exonic rs238239 ENO3 AR nonsynonymous SNV NM_053013 exon5 c.T254C p.V85A 0.303914 0.1548 0.450100 0.4606 0.1489 0.04 T 0.999 P -0.951 T 0.0 T 0.019 T Pathogenic 17_4859112_C->T 17 4859112 4859112 C T snp 590.77 0/1 99 44 18 26 0.59 intronic rs2309347 ENO3 AR NM_053013 exon9 c.4112-124C>T 0.542133 0.4038 Uncertain 17_4859123_T->C 17 4859123 4859123 T C snp 457.77 0/1 99 32 13 19 0.59 intronic rs111645512 ENO3 AR NM_053013 exon9 c.4112-113T>C Uncertain 17_4859134_C->T 17 4859134 4859134 C T snp 411.77 0/1 99 26 11 15 0.58 intronic rs117488294 ENO3 AR NM_053013 exon9 c.4112-102C>T Uncertain 17_4859156_C->T 17 4859156 4859156 C T snp 89.77 0/1 99 18 14 4 0.22 intronic rs146545678 ENO3 AR NM_053013 exon9 c.4112-80C>T Uncertain 17_4859167_T->C 17 4859167 4859167 T C snp 254.77 0/1 99 17 9 8 0.47 intronic rs1008510 ENO3 AR NM_053013 exon9 c.4112-69T>C Uncertain 17_4863310_A->T 17 4863310 4863310 A T snp 1861.77 0/1 99 146 68 78 0.53 intronic rs75170185 SPAG7 AU NM_004890 exon3 c.488-6A>T 0.0567093 0.1081 0.037052 0.0184 0.1064 Uncertain 17_4863410_A->G 17 4863410 4863410 A G snp 2352.77 0/1 99 158 62 96 0.61 splicing rs238224 SPAG7 AU NM_004890 exon3 c.578+4A>G 0.702875 0.4702 0.847103 0.7838 0.4678 Pathogenic 17_4875566_T->C 17 4875566 4875566 T C snp 1969.77 0/1 99 164 82 82 0.5 exonic rs238230 CAMTA2 AU synonymous SNV NM_015099 exon16 c.A2769G p.P923P 0.576877 0.4028 0.673689 0.5839 0.4035 Uncertain 17_4877120_G->A 17 4877120 4877120 G A snp 1823.77 0/1 99 152 78 74 0.49 intronic rs238229 CAMTA2 AU NM_001171166 exon10 c.5014+56G>A 0.719848 0.501 Uncertain 17_4877807_C->T 17 4877807 4877807 C T snp 1270.77 0/1 99 128 70 58 0.45 intronic rs75066890 CAMTA2 AU NM_001171166 exon11 c.5745+12C>T 0.00738818 0.0357 0.000384 0.0038 0.0437 ID=COSN165311;OCCURENCE=1(breast) Uncertain 17_4881776_C->G 17 4881776 4881776 C G snp 1691.77 0/1 99 139 70 69 0.5 intronic rs376516 CAMTA2 AU NM_001171166 exon13 c.9748-22C>G 0.540136 0.4018 0.633016 0.5653 0.4010 Uncertain 17_4882952_G->A 17 4882952 4882952 G A snp 872.77 0/1 99 73 35 38 0.52 intronic rs1859434 CAMTA2 AU NM_001171166 exon14 c.10928-26G>A 0.71845 0.498 0.848993 0.7613 0.4898 Uncertain 17_4883818_C->G 17 4883818 4883818 C G snp 398.77 0/1 99 44 28 16 0.36 exonic rs238234 CAMTA2 AU nonsynonymous SNV NM_015099 exon9 c.G799C p.A267P 0.71865 0.499 0.849496 0.7511 0.4892 0.38 T 0.0 P -1.043 T 0.0 T 0.0 T Pathogenic 17_4885982_G->A 17 4885982 4885982 G A snp 351.77 0/1 99 34 22 12 0.35 intronic rs238233 CAMTA2 AU NM_001171166 exon18 c.14001-69G>A 0.542133 0.4067 Uncertain 17_4886037_A->G 17 4886037 4886037 A G snp 814.77 0/1 99 80 48 32 0.4 intronic rs238232 CAMTA2 AU NM_001171166 exon18 c.14001-14A>G 0.719249 0.499 0.849223 0.7530 0.4874 Uncertain 17_4890843_T->C 17 4890843 4890843 T C snp 916.77 0/1 99 91 51 40 0.44 intronic rs8071428 CAMTA2 AU NM_001171166 exon21 c.18837-44T>C 0.579073 0.4385 0.5965 0.5190 Uncertain 17_4891956_G->A 17 4891956 4891956 G A snp 645.77 0/1 99 55 26 29 0.53 intronic rs426475 INCA1 AU NM_213726 exon1 c.150+107G>A 0.308906 0.1478 Uncertain 17_4893357_G->C 17 4893357 4893357 G C snp 1454.77 0/1 99 138 77 61 0.44 intronic rs427703 INCA1 AU NM_213726 exon5 c.1747-89G>C 0.48722 0.245 Uncertain 17_4905991_A->G 17 4905991 4905991 A G snp 3185.74 0/1 99 245 123 122 0.5 intronic rs116908728 KIF1C AR NM_006612 exon8 c.2484-34A>G 0.0133786 0.0655 0.000615 0.0046 0.0590 Uncertain 17_4926126_C->T 17 4926126 4926126 C T snp 144.77 0/1 99 12 7 5 0.42 intronic rs35748479 KIF1C AR NM_006612 exon22 c.22463+122C>T 0.290735 0.5119 Uncertain 17_4926882_A->G 17 4926882 4926882 A G snp 2055.77 1/1 99 72 0 72 1.0 exonic rs346828 KIF1C AR synonymous SNV NM_006612 exon23 c.A2748G p.P916P 0.67512 0.6627 0.664355 0.7143 0.6593 Uncertain 17_4936898_C->T 17 4936898 4936898 C T snp 2369.77 0/1 99 207 104 103 0.5 exonic rs2304445 SLC52A1 AD nonsynonymous SNV NM_017986 exon3 c.G886A p.V296M 0.30651 0.506 0.154467 0.2482 0.5059 0.05 T 0.999 P -0.957 T 1.0 D 0.983 D Pathogenic 17_4936972_G->A 17 4936972 4936972 G A snp 2430.77 0/1 99 188 90 98 0.52 exonic rs346821 SLC52A1 AD nonsynonymous SNV NM_017986 exon3 c.C812T p.A271V 0.529153 0.2331 0.688221 0.5893 0.2253 0.35 T 0.834 P -0.927 T 0.046 T 0.059 T Pathogenic 17_4937575_T->C 17 4937575 4937575 T C snp 5130.77 1/1 99 183 0 183 1.0 exonic rs346822 SLC52A1 AD nonsynonymous SNV NM_017986 exon3 c.A209G p.Q70R 0.923522 0.8204 0.955021 0.9401 0.8092 1 T 0.0 P -0.973 T 0.0 T 0.0 T Pathogenic 17_4937982_T->C 17 4937982 4937982 T C snp 790.77 0/1 99 54 22 32 0.59 UTR5 rs346824 SLC52A1 AD 0.560104 0.2361 Uncertain 17_5015129_C->A 17 5015129 5015129 C A snp 2422.77 0/1 99 192 88 104 0.54 UTR5 rs117858664 ZNF232 AU 0.0167732 0.0744 0.000769 0.0072 0.0664 Uncertain 17_5036191_G->A 17 5036191 5036191 G A snp 103.77 0/1 99 78 70 8 0.1 intronic rs75631218 USP6 AU NM_001304284 exon13 c.2542-13G>A 0.3433 0.2742 Uncertain 17_5036205_A->C 17 5036205 5036205 A C snp 85.77 0/1 99 87 78 9 0.1 exonic rs80328123 USP6 AU nonsynonymous SNV NM_004505 exon5 c.A196C p.K66Q 0.3633 0.3006 1 D -0.941 T 0.0 T 0.0 T Pathogenic 17_5036210_T->G 17 5036210 5036210 T G snp 91.77 0/1 99 91 81 10 0.11 exonic rs762931474 USP6 AU nonsynonymous SNV NM_004505 exon5 c.T201G p.I67M 0.3645 0.3012 0 D 0.779 N -1.007 T 0.932 T 0.137 D Pathogenic 17_5036211_C->T 17 5036211 5036211 C T snp 85.77 0/1 99 92 83 9 0.1 exonic rs201674756 USP6 AU nonsynonymous SNV NM_004505 exon5 c.C202T p.R68W 0.3514 0.2858 0 D 0.986 N -1.015 T 0.997 D 0.428 D Pathogenic 17_5036214_C->T 17 5036214 5036214 C T snp 67.77 0/1 96 100 90 10 0.1 exonic rs114647990 USP6 AU nonsynonymous SNV NM_004505 exon5 c.C205T p.R69W 0.3498 0.2844 0 D 0.999 N -0.997 T 0.899 T 0.042 P Pathogenic 17_5036224_C->G 17 5036224 5036224 C G snp 160.77 0/1 99 115 98 17 0.15 exonic rs72830922 USP6 AU nonsynonymous SNV NM_004505 exon5 c.C215G p.T72R 0.3646 0.2969 0 D 1 D -0.991 T 0.007 T 0.002 T Pathogenic 17_5036274_C->A 17 5036274 5036274 C A snp 226.77 0/1 99 130 108 22 0.17 exonic rs78465432 USP6 AU nonsynonymous SNV NM_004505 exon5 c.C265A p.H89N 0.4532 0.4137 0.43 T 1 D -0.943 T 0.0 T 0.0 T Pathogenic 17_5036281_G->C 17 5036281 5036281 G C snp 221.77 0/1 99 128 105 23 0.18 exonic rs76236903 USP6 AU nonsynonymous SNV NM_004505 exon5 c.G272C p.S91T 0.4553 0.4155 0.52 T 1 D -0.664 T 0.013 T 0.003 T Pathogenic 17_5036329_A->G 17 5036329 5036329 A G snp 268.77 0/1 99 97 80 17 0.18 intronic rs72830923 USP6 AU NM_001304284 exon13 c.2623+44A>G 0.4558 0.4171 Uncertain 17_5036383_C->T 17 5036383 5036383 C T snp 41.77 0/1 70 38 34 4 0.11 intronic rs76207017 USP6 AU NM_001304284 exon13 c.2623+98C>T Uncertain 17_5039138_C->T 17 5039138 5039138 C T snp 34.77 0/1 63 9 7 2 0.22 exonic rs3213878 USP6 AU synonymous SNV NM_004505 exon9 c.C579T p.T193T 0.0978435 0.0774 0.125404 0.1013 0.0693 Uncertain 17_5042241_G->A 17 5042241 5042241 G A snp 49.77 0/1 33 5 1 4 0.8 intronic rs28645497 USP6 AU NM_001304284 exon22 c.8887-308G>A 0.247005 0.4425 0.046220 0.3733 0.4851 Uncertain 17_5042346_C->A 17 5042346 5042346 C A snp 174.77 0/1 99 30 20 10 0.33 intronic rs11870506 USP6 AU NM_001304284 exon22 c.8887-203C>A 0.350439 0.6032 0.152166 0.3670 0.6469 Uncertain 17_5042422_G->A 17 5042422 5042422 G A snp 291.77 0/1 99 31 19 12 0.39 intronic rs4080179 USP6 AU NM_001304284 exon22 c.8887-127G>A 0.418131 0.6032 0.219219 0.3069 0.6126 0 D 0.0 P -0.865 T 0.0 T 0.0 T Uncertain 17_5042715_G->A 17 5042715 5042715 G A snp 453.77 0/1 99 26 10 16 0.62 exonic rs61740308 USP6 AU nonsynonymous SNV NM_004505 exon14 c.G1244A p.C415Y 0.101637 0.0784 0.127633 0.1018 0.0686 0.01 T 0.0 P -1.016 T 0.782 T 0.588 P Pathogenic 17_5042837_C->T 17 5042837 5042837 C T snp 495.77 0/1 99 40 18 22 0.55 exonic rs61745111 USP6 AU nonsynonymous SNV NM_004505 exon14 c.C1366T p.R456W 0.101637 0.0784 0.127710 0.1019 0.0688 0 D 0.0 P -0.966 T 0.0 T 0.0 T ID=COSM25356;OCCURENCE=1(lung) Pathogenic 17_5042894_T->C 17 5042894 5042894 T C snp 1280.77 1/1 90 50 0 50 1.0 exonic rs8073787 USP6 AU nonsynonymous SNV NM_004505 exon14 c.T1423C p.W475R 0.77496 0.9087 0.637706 0.6492 0.9109 0.46 T 0.0 P -1.065 T 0.006 T 0.001 T Pathogenic 17_5048207_A->G 17 5048207 5048207 A G snp 896.77 0/1 99 64 29 35 0.55 intronic rs2304447 USP6 AU NM_001304284 exon26 c.14496+49A>G 0.591054 0.3958 0.778948 0.7044 0.3849 Uncertain 17_5050609_A->G 17 5050609 5050609 A G snp 155.77 0/1 99 9 4 5 0.56 intronic rs56143992 USP6 AU NM_001304284 exon29 c.16827+120A>G 0.102037 0.0784 Uncertain 17_5051848_T->C 17 5051848 5051848 T C snp 1725.77 0/1 99 175 104 71 0.41 splicing rs112209972 USP6 AU NM_001304284 exon30 c.18188-2T>C 0.102236 0.0784 0.127864 0.1020 0.0689 Pathogenic 17_5066305_A->T 17 5066305 5066305 A T snp 1041.77 0/1 99 106 56 50 0.47 splicing rs2307138 USP6 AU NM_001304284 exon33 c.32637+6A>T 0.577276 0.3968 0.771029 0.6994 0.3900 Pathogenic 17_5074832_C->T 17 5074832 5074832 C T snp 411.77 0/1 99 37 22 15 0.41 intronic rs2309368 USP6 AU NM_001304284 exon37 c.41219-49C>T 0.00299521 0.0119 0.0009 0.0082 Uncertain 17_5084763_G->A 17 5084763 5084763 G A snp 7310.77 1/1 99 250 0 250 1.0 UTR3 rs1689965 ZNF594 AU 0.974441 1 0.9938 1 1 T 0.156 P -0.948 T Uncertain 17_5085857_C->T 17 5085857 5085857 C T snp 2713.77 0/1 99 250 134 116 0.46 exonic rs1730488 ZNF594 AU synonymous SNV NM_032530 exon2 c.G1695A p.A565A 0.246006 0.4415 0.058339 0.1778 0.4564 Uncertain 17_5126768_G->A 17 5126768 5126768 G A snp 1049.77 0/1 99 92 42 50 0.54 ncRNA_exonic rs78015303 LOC100130950 AU 0.0603035 0.0704 0.082574 0.0763 0.0777 Uncertain 17_5185664_T->C 17 5185664 5185664 T C snp 1923.77 1/1 99 73 0 73 1.0 UTR5 rs11538946 RABEP1 AU 0.748602 0.9563 Uncertain 17_5249998_G->A 17 5249998 5249998 G A snp 388.77 0/1 99 29 12 17 0.59 intronic rs11871517 RABEP1 AU NM_001083585 exon6 c.64303-86G>A 0.483027 0.4742 Uncertain 17_5254009_A->G 17 5254009 5254009 A G snp 111.77 0/1 64 6 2 4 0.67 intronic rs562722126 RABEP1 AU NM_001083585 exon7 c.68143+85A>G 0.000199681 0.001 Uncertain 17_5280440_T->C 17 5280440 5280440 T C snp 1266.77 0/1 99 131 73 58 0.44 exonic rs3026101 RABEP1 AU synonymous SNV NM_001291581 exon13 c.T1926C p.R642R 0.391973 0.6012 0.284093 0.3577 0.6336 Uncertain 17_5281758_G->A 17 5281758 5281758 G A snp 204.77 0/1 99 16 9 7 0.44 intronic rs3026105 RABEP1 AU NM_001083585 exon15 c.95746+231G>A 0.262979 0.5655 Uncertain 17_5283617_A->T 17 5283617 5283617 A T snp 1001.77 1/1 72 38 0 38 1.0 intronic rs11868032 RABEP1 AU NM_004703 exon16 c.97877-41A>T 0.579473 0.8244 0.414344 0.5219 0.8527 Uncertain 17_5284480_T->C 17 5284480 5284480 T C snp 252.8 1/1 21 7 0 7 1.0 intronic rs3026109 RABEP1 AU NM_001083585 exon16 c.98902-203T>C 0.552316 0.8254 Uncertain 17_5284544_AA->- 17 5284544 5284545 AA - indel 2830.73 1/1 99 55 0 55 1.0 intronic rs56804522 RABEP1 AU NM_001083585 exon16 c.98902-139_98902-138delAA 0.552316 0.8254 Uncertain 17_5284698_A->G 17 5284698 5284698 A G snp 5631.77 1/1 99 203 0 203 1.0 exonic rs1143206 RABEP1 AU synonymous SNV NM_001083585 exon16 c.A2286G p.Q762Q 0.552117 0.8254 0.397540 0.4738 0.8429 Uncertain 17_5284719_T->C 17 5284719 5284719 T C snp 5633.77 1/1 99 206 0 206 1.0 exonic rs1065482 RABEP1 AU synonymous SNV NM_001083585 exon16 c.T2307C p.N769N 0.552117 0.8254 0.397479 0.4737 0.8429 Uncertain 17_5284770_G->A 17 5284770 5284770 G A snp 4827.77 1/1 99 172 0 172 1.0 exonic rs1065483 RABEP1 AU synonymous SNV NM_001083585 exon16 c.G2358A p.R786R 0.677516 0.9623 0.466422 0.5331 0.9730 Uncertain 17_5286692_T->C 17 5286692 5286692 T C snp 135.03 1/1 12 4 0 4 1.0 UTR3 rs8703 RABEP1 AU 0.678315 0.9633 Uncertain 17_5289580_A->G 17 5289580 5289580 A G snp 6563.77 1/1 99 236 0 236 1.0 exonic rs11209 NUP88 AU synonymous SNV NM_002532 exon17 c.T2172C p.H724H 0.576478 0.8244 0.420421 0.4690 0.8428 Uncertain 17_5289676_C->T 17 5289676 5289676 C T snp 2185.77 1/1 99 63 0 63 1.0 intronic rs1806222 NUP88 AU NM_002532 exon1 c.64+87C>T 0.552316 0.8244 Uncertain 17_5289866_AT->- 17 5289866 5289867 AT - indel 1099.73 1/1 66 22 0 22 1.0 intronic rs61075007 NUP88 AU NM_002532 exon2 c.502-161_502-160delAT 0.552316 0.8234 Uncertain 17_5290033_T->C 17 5290033 5290033 T C snp 5755.77 1/1 99 223 0 223 1.0 exonic rs1071705 NUP88 AU synonymous SNV NM_002532 exon16 c.A2157G p.K719K 0.552716 0.8244 0.403045 0.4736 0.8436 Uncertain 17_5290599_G->A 17 5290599 5290599 G A snp 123.03 1/1 12 4 0 4 1.0 intronic rs739766 NUP88 AU NM_002532 exon4 c.1180-106G>A 0.552117 0.8234 Uncertain 17_5290681_A->C 17 5290681 5290681 A C snp 1840.77 1/1 99 53 0 53 1.0 intronic rs739767 NUP88 AU NM_002532 exon4 c.1180-24A>C 0.552316 0.8244 0.401046 0.4735 0.8432 Uncertain 17_5290703_G->A 17 5290703 5290703 G A snp 2782.77 1/1 99 87 0 87 1.0 splicing rs739768 NUP88 AU NM_002532 exon4 c.1180-2G>A 0.552316 0.8244 0.402276 0.4733 0.8426 Pathogenic 17_5290824_C->A 17 5290824 5290824 C A snp 4437.77 1/1 99 166 1 165 0.99 intronic rs748486 NUP88 AU NM_002532 exon4 c.1261+38C>A 0.552516 0.8244 0.402430 0.4735 0.8434 Uncertain 17_5291277_AAAT->- 17 5291277 5291280 AAAT - indel 742.73 1/1 36 17 0 17 1.0 intronic rs142820374 NUP88 AU NM_002532 exon6 c.1699+53_1699+56delAAAT 0.552716 0.8254 0.392851 0.4900 0.8433 Uncertain 17_5294976_T->A 17 5294976 5294976 T A snp 2157.77 1/1 99 81 0 81 1.0 exonic rs14231 NUP88 AU synonymous SNV NM_002532 exon10 c.A1389T p.P463P 0.552316 0.8254 0.402583 0.4749 0.8444 Uncertain 17_5298320_C->T 17 5298320 5298320 C T snp 1719.77 1/1 99 54 0 54 1.0 intronic rs1806240 NUP88 AU NM_002532 exon9 c.8776+19C>T 0.552117 0.8244 0.402737 0.4748 0.8427 Uncertain 17_5298396_G->A 17 5298396 5298396 G A snp 182.9 1/1 15 5 0 5 1.0 intronic rs2309372 NUP88 AU NM_002532 exon9 c.8776+95G>A 0.552117 0.8244 Uncertain 17_5302778_T->C 17 5302778 5302778 T C snp 672.77 1/1 51 17 0 17 1.0 intronic rs12602074 NUP88 AU NM_002532 exon10 c.13346-93T>C 0.552117 0.8244 Uncertain 17_5308279_G->A 17 5308279 5308279 G A snp 136.03 1/1 12 4 0 4 1.0 intronic rs2301738 NUP88 AU NM_002532 exon12 c.18851-97G>A 0.579473 0.8244 Uncertain 17_5308603_G->A 17 5308603 5308603 G A snp 1614.77 1/1 99 59 0 59 1.0 intronic rs3026133 NUP88 AU NM_002532 exon12 c.19038+40G>A 0.781949 0.9633 0.612794 0.6197 0.9735 Uncertain 17_5312271_A->G 17 5312271 5312271 A G snp 1462.77 1/1 99 51 0 51 1.0 intronic rs929262 NUP88 AU NM_002532 exon13 c.22704+42A>G 0.552316 0.8244 0.403092 0.4781 0.8452 Uncertain 17_5314188_G->A 17 5314188 5314188 G A snp 1795.77 0/1 99 152 77 75 0.49 intronic rs1806254 NUP88 AU NM_002532 exon14 c.24584+79G>A 0.0551118 0.1677 Uncertain 17_5314263_G->C 17 5314263 5314263 G C snp 1160.77 1/1 84 33 0 33 1.0 intronic rs1806255 NUP88 AU NM_002532 exon14 c.24584+154G>C 0.679912 0.9623 Uncertain 17_5317492_C->A 17 5317492 5317492 C A snp 1140.77 0/1 99 62 21 41 0.66 intronic rs1806263 NUP88 AU NM_002532 exon15 c.27929+38C>A 0.387979 0.6052 0.272189 0.3544 0.6308 Uncertain 17_5319748_A->C 17 5319748 5319748 A C snp 44.77 0/1 33 3 1 2 0.67 intronic rs1806264 NUP88 AU NM_002532 exon16 c.30307-84A>C 0.282149 0.5972 Uncertain 17_5320044_T->A 17 5320044 5320044 T A snp 962.77 1/1 69 36 0 36 1.0 intronic rs1806265 NUP88 AU NM_002532 exon16 c.30477+42T>A 0.579473 0.8244 0.424579 0.4809 0.84 Uncertain 17_5320082_-->T 17 5320082 5320082 - T indel 613.73 1/1 48 21 0 21 1.0 intronic rs35036161 NUP88 AU NM_002532 exon16 c.30477+80insT 0.59385 0.8244 Uncertain 17_5323206_T->G 17 5323206 5323206 T G snp 272.8 1/1 21 9 0 9 1.0 UTR5 rs1058117 RPAIN AU 0.572085 0.9563 Uncertain 17_5323269_C->T 17 5323269 5323269 C T snp 1459.77 1/1 99 42 0 42 1.0 UTR5 rs1058115 RPAIN AU 0.571486 0.9563 Uncertain 17_5323631_A->G 17 5323631 5323631 A G snp 1622.77 1/1 99 49 0 49 1.0 intronic rs9908179 RPAIN AU NM_001160266 exon1 c.81+20A>G 0.573882 0.9603 0.349608 0.4730 0.9721 Uncertain 17_5324431_G->A 17 5324431 5324431 G A snp 43.77 0/1 66 4 2 2 0.5 intronic rs4578712 RPAIN AU NM_001160266 exon2 c.1085-184G>A 0.438299 0.7946 Uncertain 17_5324588_C->T 17 5324588 5324588 C T snp 815.77 0/1 99 118 78 40 0.34 intronic rs4444392 RPAIN AU NM_001160266 exon2 c.1085-27C>T 0.436502 0.7907 0.155215 0.3177 0.7157 Uncertain 17_5324836_C->T 17 5324836 5324836 C T snp 223.77 0/1 99 18 9 9 0.5 intronic rs9303192 RPAIN AU NM_001160266 exon2 c.1256+50C>T 0.438498 0.7946 0.249500 0.3657 0.8273 Uncertain 17_5326089_C->T 17 5326089 5326089 C T snp 794.77 0/1 99 60 26 34 0.57 exonic rs1071648 RPAIN AU synonymous SNV NM_001033002 exon3 c.C253T p.L85L 0.445887 0.7937 0.255882 0.3654 0.8241 Uncertain 17_5326145_C->G 17 5326145 5326145 C G snp 731.77 0/1 99 47 20 27 0.57 exonic rs12761 RPAIN AU nonsynonymous SNV NM_001033002 exon3 c.C309G p.N103K 0.446086 0.7946 0.255959 0.3651 0.8245 0.85 T 0.0 P -0.954 T 0.039 T 0.023 T Pathogenic 17_5326162_G->A 17 5326162 5326162 G A snp 1221.77 1/1 87 45 0 45 1.0 intronic rs2189336 RPAIN AU NM_001160266 exon3 c.2619+13G>A 0.778754 0.9613 0.605720 0.6134 0.9725 Uncertain 17_5326178_C->T 17 5326178 5326178 C T snp 497.77 0/1 99 39 18 21 0.54 intronic rs2189337 RPAIN AU NM_001160266 exon3 c.2619+29C>T 0.446086 0.7946 0.252960 0.3624 0.8213 Uncertain 17_5326341_C->T 17 5326341 5326341 C T snp 56.74 1/1 6 2 0 2 1.0 intronic rs2189338 RPAIN AU NM_001160266 exon3 c.2619+192C>T 0.659944 0.9603 Uncertain 17_5328633_G->A 17 5328633 5328633 G A snp 470.77 0/1 99 41 21 20 0.49 intronic rs8080400 RPAIN AU NM_001160266 exon4 c.5760-657G>A 0.419129 0.7956 0.4123 0.7791 0.49 T 0.0 P -1.009 T Uncertain 17_5328661_T->C 17 5328661 5328661 T C snp 438.77 0/1 99 35 16 19 0.54 intronic rs8067738 RPAIN AU NM_001160266 exon4 c.5760-629T>C 0.417931 0.7847 0.4501 0.4846 0.0 P Uncertain 17_5328748_T->C 17 5328748 5328748 T C snp 154.77 0/1 37 11 3 8 0.73 intronic rs8067894 RPAIN AU NM_001160266 exon4 c.5760-542T>C 0.419129 0.7956 0.3996 0.7818 0.56 T 0.0 P -0.982 T Uncertain 17_5329821_T->G 17 5329821 5329821 T G snp 254.77 0/1 99 14 6 8 0.57 intronic rs77921709 RPAIN AU NM_001160243 exon5 c.6089+202T>G 0.135583 0.1647 Uncertain 17_5334850_G->A 17 5334850 5334850 G A snp 1164.77 0/1 99 96 51 45 0.47 intronic rs72634034 RPAIN AU NM_001160266 exon5 c.12331-1011G>A 0.285942 0.6567 0.2573 0.6392 1 T 0.000 P -0.930 T Uncertain 17_5334874_A->- 17 5334874 5334874 A - indel 2071.73 0/1 99 122 61 61 0.5 intronic rs34134819 RPAIN AU NM_001160266 exon5 c.12331-987delA 0.387979 0.7837 0.3523 0.7727 ID=COSM1479754;OCCURENCE=1(breast) Uncertain 17_5335752_C->T 17 5335752 5335752 C T snp 723.77 0/1 99 41 14 27 0.66 intronic rs8072363 RPAIN AU NM_001160266 exon5 c.12331-109C>T 0.390375 0.7808 Uncertain 17_5336058_G->A 17 5336058 5336058 G A snp 158.77 0/1 99 8 3 5 0.63 UTR3 rs1050390 RPAIN AU 0.390575 0.7798 Uncertain 17_5336791_G->T 17 5336791 5336791 G T snp 839.77 0/1 99 76 39 37 0.49 intronic rs4790264 C1QBP AU NM_001212 exon2 c.401+56G>T 0.389377 0.7798 Uncertain 17_5338059_-->A 17 5338059 5338059 - A indel 344.74 1/1 27 9 0 9 1.0 intronic rs34312464 C1QBP AU NM_001212 exon4 c.1858-133insA 0.145367 0.2024 Uncertain 17_5341749_A->G 17 5341749 5341749 A G snp 528.77 1/1 39 16 0 16 1.0 intronic rs1805435 C1QBP AU NM_001212 exon5 c.5259+156A>G 0.46905 0.8363 Uncertain 17_5347956_A->T 17 5347956 5347956 A T snp 351.78 1/1 27 10 0 10 1.0 intronic rs12603094 DHX33 AU NM_020162 exon1 c.309+123A>T 0.17472 0.2143 Uncertain 17_5356913_C->T 17 5356913 5356913 C T snp 2145.77 0/1 99 208 112 96 0.46 exonic rs16954697 DHX33 AU synonymous SNV NM_001199699 exon7 c.G864A p.S288S 0.208067 0.2331 0.168768 0.1585 0.2142 Uncertain 17_5358671_C->T 17 5358671 5358671 C T snp 726.77 1/1 54 25 0 25 1.0 intronic rs11867311 DHX33 AU NM_020162 exon7 c.11067+80C>T 0.458466 0.3661 Uncertain 17_5366650_C->G 17 5366650 5366650 C G snp 50.74 1/1 6 2 0 2 1.0 intronic rs8070008 DHX33 AU NM_020162 exon11 c.19324-198C>G 0.461661 0.3651 Uncertain 17_5372259_G->A 17 5372259 5372259 G A snp 1717.77 1/1 99 62 0 62 1.0 UTR5 rs28372907 DHX33 AU 0.346645 0.3591 0.2781 0.3353 Uncertain 17_5388568_-->CAAC 17 5388568 5388568 - CAAC indel 2084.73 1/1 93 31 0 31 1.0 intronic rs16710 DERL2 AU NM_016041 exon6 c.10533+32insCAAC 0.465256 0.372 0.447970 0.3515 0.3389 Uncertain 17_5392161_C->T 17 5392161 5392161 C T snp 1565.77 0/1 99 159 87 72 0.45 UTR5 rs929261 MIS12 AU 0.352436 0.3036 0.334000 0.2685 0.2754 Uncertain 17_5392173_A->C 17 5392173 5392173 A C snp 2195.77 0/1 99 175 82 93 0.53 UTR5 rs1805464 MIS12 AU 0.0615016 0.0694 0.049285 0.0417 0.0650 Uncertain 17_5403957_G->A 17 5403957 5403957 G A snp 1485.77 0/1 99 110 47 63 0.57 exonic LOC728392 AU nonsynonymous SNV NM_001162371 exon1 c.C320T p.T107I Pathogenic 17_5404011_T->C 17 5404011 5404011 T C snp 1095.77 0/1 99 131 82 49 0.37 exonic rs73973816 LOC728392 AU nonsynonymous SNV NM_001162371 exon1 c.A266G p.D89G 0.0974441 0.1577 0.034604 0.0632 0.1532 Pathogenic 17_5404062_C->T 17 5404062 5404062 C T snp 1626.77 0/1 99 111 41 70 0.63 exonic rs116516994 LOC728392 AU nonsynonymous SNV NM_001162371 exon1 c.G215A p.R72H 0.122005 0.0685 0.120018 0.1017 0.0825 Pathogenic 17_5418107_G->A 17 5418107 5418107 G A snp 1281.77 0/1 99 122 59 63 0.52 exonic rs74929853 NLRP1 AU,AD synonymous SNV NM_033004 exon17 c.C4389T p.G1463G 0.0696885 0.1429 0.001463 0.0328 0.1325 Uncertain 17_5418799_G->A 17 5418799 5418799 G A snp 1011.77 0/1 99 108 58 50 0.46 exonic rs2137722 NLRP1 AU,AD nonsynonymous SNV NM_033004 exon16 c.C4096T p.R1366C 0.101238 0.1429 0.051542 0.0777 0.1347 0.2 T 0.0 P -1.106 T 0.002 T 0.001 T Pathogenic 17_5421005_T->A 17 5421005 5421005 T A snp 2437.77 1/1 99 83 0 83 1.0 intronic rs56750129 NLRP1 AU,AD NM_033004 exon3 c.2992-60T>A 0.335463 0.2649 Uncertain 17_5421006_C->A 17 5421006 5421006 C A snp 2498.77 1/1 99 84 0 84 1.0 intronic rs59564976 NLRP1 AU,AD NM_033004 exon3 c.2992-59C>A 0.335463 0.2649 Uncertain 17_5424886_G->A 17 5424886 5424886 G A snp 471.77 0/1 99 58 35 23 0.4 exonic rs2301583 NLRP1 AU,AD synonymous SNV NM_033004 exon13 c.C3741T p.T1247T 0.0688898 0.1438 0.0322 0.1326 Uncertain 17_5425077_T->C 17 5425077 5425077 T C snp 296.78 1/1 24 9 0 9 1.0 exonic rs11651270 NLRP1 AU,AD nonsynonymous SNV NM_033004 exon13 c.A3550G p.M1184V 0.417931 0.2768 0.482623 0.4549 0.2487 1 T 0.0 P -0.940 T 0.0 T 0.0 T ID=CM1212937;DIS=Increased IL-1b release;TAG=FP;PUB=22665479 FP Pathogenic 17_5436343_G->A 17 5436343 5436343 G A snp 1504.77 0/1 99 126 62 64 0.51 intronic rs117932123 NLRP1 AU,AD NM_033004 exon7 c.18231+39G>A 0.0776757 0.1458 0.008688 0.0325 0.1356 Uncertain 17_5437186_C->T 17 5437186 5437186 C T snp 441.77 0/1 99 40 22 18 0.45 intronic rs35568355 NLRP1 AU,AD NM_033004 exon9 c.19143-30C>T 0.123403 0.1587 0.069968 0.0799 0.1410 Uncertain 17_5440197_T->C 17 5440197 5440197 T C snp 2023.77 0/1 99 174 88 86 0.49 exonic rs7215856 NLRP1 AU,AD synonymous SNV NM_033004 exon8 c.A2934G p.K978K 0.119209 0.1587 0.065893 0.0795 0.1414 Uncertain 17_5442686_C->- 17 5442686 5442686 C - indel 496.73 0/1 99 45 26 19 0.42 intronic rs575738077 NLRP1 AU,AD NM_033004 exon11 c.24661-48delC 0.00139776 0.006 0.002955 0.0011 0.0109 Uncertain 17_5462805_C->T 17 5462805 5462805 C T snp 2839.77 0/1 99 248 130 118 0.48 exonic rs3744718 NLRP1 AU,AD nonsynonymous SNV NM_033004 exon4 c.G1211A p.R404Q 0.00459265 0.0169 0.001307 0.0016 0.0138 0.09 T 1 N -0.846 T 0.197 T 0.039 T Pathogenic 17_5487164_C->G 17 5487164 5487164 C G snp 1521.77 0/1 99 139 73 66 0.47 exonic rs884367 NLRP1 AU,AD synonymous SNV NM_033004 exon1 c.G114C p.S38S 0.283147 0.6587 0.129909 0.3234 0.6890 Uncertain 17_5984445_C->- 17 5984445 5984445 C - indel 1487.73 0/1 99 110 46 64 0.58 intronic rs3214409 WSCD1 AU NM_015253 exon2 c.427+40delC 0.00559105 0.0238 0.0032 0.0330 Uncertain 17_5984451_A->G 17 5984451 5984451 A G snp 1222.77 0/1 99 96 46 50 0.52 intronic rs532636767 WSCD1 AU NM_015253 exon2 c.427+46A>G 0.00559105 0.0238 0.0038 0.0374 Uncertain 17_5991344_C->T 17 5991344 5991344 C T snp 808.77 0/1 99 80 44 36 0.45 exonic rs2302836 WSCD1 AU synonymous SNV NM_015253 exon3 c.C462T p.H154H 0.526757 0.8204 0.427879 0.5546 0.8209 Uncertain 17_5998691_C->G 17 5998691 5998691 C G snp 480.77 0/1 99 31 15 16 0.52 intronic rs41314095 WSCD1 AU NM_015253 exon5 c.14565+148C>G 0.132588 0.0843 Uncertain 17_6014176_A->G 17 6014176 6014176 A G snp 2312.77 0/1 99 162 67 95 0.59 exonic rs2302837 WSCD1 AU synonymous SNV NM_015253 exon7 c.A1095G p.T365T 0.901757 0.9504 0.891127 0.9203 0.9539 Uncertain 17_6021541_C->T 17 6021541 6021541 C T snp 437.77 0/1 99 28 13 15 0.54 intronic rs2302838 WSCD1 AU NM_015253 exon8 c.37530+33C>T 0.586262 0.8373 0.484699 0.5891 0.8755 Uncertain 17_6329846_G->A 17 6329846 6329846 G A snp 37.77 0/1 66 6 4 2 0.33 intronic rs71370441 AIPL1 AR NM_001285399 exon2 c.1155-88G>A 0.204673 0.3363 Uncertain 17_6330068_T->C 17 6330068 6330068 T C snp 5881.77 1/1 99 206 0 206 1.0 exonic rs2292546 AIPL1 AR synonymous SNV NM_014336 exon5 c.A651G p.P217P 0.713658 0.6716 0.738659 0.7250 0.6680 CLINSIG=untested;CLNDBN=not_provided;CLNREVSTAT=no_assertion_provided;CLNACC=RCV000086230.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Uncertain 17_6330109_G->A 17 6330109 6330109 G A snp 2331.77 0/1 99 176 83 93 0.53 intronic rs2292545 AIPL1 AR NM_001285399 exon2 c.1297+33G>A 0.204872 0.3363 0.217207 0.2525 0.3254 Uncertain 17_6330153_C->T 17 6330153 6330153 C T snp 2303.77 0/1 99 191 91 100 0.52 intronic rs925616 AIPL1 AR NM_001285399 exon3 c.1421-47C>T 0.356629 0.4812 0.363371 0.3615 0.4632 Uncertain 17_6331803_T->C 17 6331803 6331803 T C snp 4939.77 1/1 99 182 0 182 1.0 exonic rs8075035 AIPL1 AR synonymous SNV NM_014336 exon3 c.A300G p.L100L 0.575879 0.5367 0.605259 0.6346 0.5400 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000152749.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 17_6331836_T->G 17 6331836 6331836 T G snp 4377.77 1/1 99 162 0 162 1.0 intronic rs12453262 AIPL1 AR NM_001285399 exon4 c.3047+10T>G 0.491014 0.499 0.513455 0.5550 0.4973 CLINSIG=untested|non-pathogenic;CLNDBN=not_provided|not_specified;CLNREVSTAT=no_assertion_provided|criteria_provided\x2c_single_submitter;CLNACC=RCV000086219.1|RCV000152751.2;CLNDSDB=MedGen|MedGen;CLNDSDBID=CN221809|CN169374 Uncertain 17_6337247_C->G 17 6337247 6337247 C G snp 736.77 0/1 99 53 26 27 0.51 exonic rs12449580 AIPL1 AR nonsynonymous SNV NM_014336 exon2 c.G268C p.D90H 0.179912 0.3462 0.165385 0.2058 0.3300 0.45 T 1.000 P -1.180 T 1.0 D 0.999 D CLINSIG=untested;CLNDBN=not_provided;CLNREVSTAT=no_assertion_provided;CLNACC=RCV000086217.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Pathogenic 17_6338530_G->T 17 6338530 6338530 G T snp 559.77 0/1 99 50 26 24 0.48 upstream rs7211442 AIPL1 AR 0.134585 0.3105 Uncertain 17_6348823_A->G 17 6348823 6348823 A G snp 490.77 0/1 99 49 31 18 0.37 intronic rs7220100 FAM64A AU NM_001195228 exon2 c.294+99A>G 0.254593 0.1647 Uncertain 17_6350727_C->T 17 6350727 6350727 C T snp 976.77 0/1 99 84 38 46 0.55 intronic rs12947546 FAM64A AU NM_001195228 exon3 c.2352-55C>T 0.284345 0.2321 Uncertain 17_6352863_C->T 17 6352863 6352863 C T snp 599.77 0/1 99 36 14 22 0.61 intronic rs34107703 FAM64A AU NM_001195228 exon4 c.4297+136C>T 0.285743 0.2331 Uncertain 17_6353679_A->C 17 6353679 6353679 A C snp 1479.77 0/1 99 115 54 61 0.53 splicing rs7218283 FAM64A AU NM_001195228 exon5 c.5251-2A>C 0.890575 0.8433 0.906239 0.8824 0.8854 Pathogenic 17_6358989_G->C 17 6358989 6358989 G C snp 845.77 0/1 99 45 15 30 0.67 intronic rs73346328 PITPNM3 AD NM_001165966 exon1 c.306+26G>C 0.355631 0.5327 0.256923 0.3035 0.4738 Uncertain 17_6359038_A->G 17 6359038 6359038 A G snp 46.77 0/1 33 3 1 2 0.67 intronic rs578081392 PITPNM3 AD NM_001165966 exon1 c.306+75A>G 0.210663 0.3304 Uncertain 17_6359042_G->T 17 6359042 6359042 G T snp 46.77 0/1 33 3 1 2 0.67 intronic PITPNM3 AD NM_001165966 exon1 c.306+79G>T Uncertain 17_6364753_A->G 17 6364753 6364753 A G snp 4529.77 1/1 99 156 0 156 1.0 exonic rs11654099 PITPNM3 AD synonymous SNV NM_031220 exon18 c.T2430C p.D810D 0.913938 0.9058 0.889051 0.8687 0.9160 Uncertain 17_6366943_A->G 17 6366943 6366943 A G snp 44.77 0/1 33 3 1 2 0.67 intronic rs73975549 PITPNM3 AD NM_001165966 exon4 c.8394-108A>G 0.169728 0.1647 Uncertain 17_6371501_G->A 17 6371501 6371501 G A snp 376.77 0/1 99 29 14 15 0.52 intronic rs142106905 PITPNM3 AD NM_001165966 exon7 c.12887-43G>A 0.00399361 0.0198 0.0014 0.0167 Uncertain 17_6377999_G->A 17 6377999 6377999 G A snp 356.77 0/1 99 27 15 12 0.44 intronic rs79010537 PITPNM3 AD NM_001165966 exon11 c.19267+75G>A 0.136981 0.1657 Uncertain 17_6406731_T->C 17 6406731 6406731 T C snp 40.77 0/1 69 5 3 2 0.4 intronic rs3809836 PITPNM3 AD NM_001165966 exon17 c.48189-115T>C 0.385783 0.373 Uncertain 17_6428620_C->G 17 6428620 6428620 C G snp 436.77 0/1 99 31 15 16 0.52 intronic rs3809834 PITPNM3 AD NM_031220 exon18 c.70018-55C>G 0.24381 0.3363 Uncertain 17_6441164_T->C 17 6441164 6441164 T C snp 372.77 0/1 99 18 6 12 0.67 intronic rs165106 PITPNM3 AD NM_001165966 exon18 c.82649-142T>C 0.753994 0.6548 Uncertain 17_6483046_T->C 17 6483046 6483046 T C snp 2073.77 1/1 99 78 0 78 1.0 UTR3 rs3744720 KIAA0753 AR 0.689097 0.7093 0.641304 0.6228 0.6972 Uncertain 17_6493056_T->C 17 6493056 6493056 T C snp 700.77 1/1 51 25 0 25 1.0 intronic rs367918 KIAA0753 AR NM_014804 exon2 c.10032-42T>C 0.958267 0.8304 0.993605 0.9772 0.8409 Uncertain 17_6493198_T->C 17 6493198 6493198 T C snp 2485.77 1/1 99 94 0 94 1.0 exonic rs1443417 KIAA0753 AR nonsynonymous SNV NM_014804 exon18 c.A2687G p.Q896R 0.688898 0.7093 0.638635 0.6225 0.6972 0.42 T 0.000 P -1.018 T 0.0 T 0.0 T Pathogenic 17_6493391_C->T 17 6493391 6493391 C T snp 208.77 0/1 99 28 18 10 0.36 intronic rs2278646 KIAA0753 AR NM_014804 exon2 c.10257+68C>T 0.284345 0.3562 Uncertain 17_6503518_C->T 17 6503518 6503518 C T snp 186.77 0/1 99 11 5 6 0.55 intronic rs2289640 KIAA0753 AR NM_014804 exon7 c.20633-181C>T 0.284545 0.3562 Uncertain 17_6511781_A->G 17 6511781 6511781 A G snp 2867.77 1/1 99 107 0 107 1.0 exonic rs4796519 KIAA0753 AR synonymous SNV NM_014804 exon10 c.T1716C p.A572A 0.663339 0.7103 0.617589 0.6178 0.6969 Uncertain 17_6513329_G->A 17 6513329 6513329 G A snp 1304.77 0/1 99 91 37 54 0.59 exonic rs2304977 KIAA0753 AR nonsynonymous SNV NM_014804 exon9 c.C1697T p.P566L 0.271765 0.3562 0.283719 0.3575 0.3350 0.31 T 1.000 P -1.136 T 0.979 D 0.747 D Pathogenic 17_6515387_A->G 17 6515387 6515387 A G snp 5838.77 1/1 99 212 1 211 1.0 exonic rs2289642 KIAA0753 AR nonsynonymous SNV NM_014804 exon8 c.T1397C p.L466P 0.689097 0.7103 0.639864 0.6224 0.6970 0.43 T 0.000 P -1.017 T 0.0 T 0.0 T Pathogenic 17_6515454_C->T 17 6515454 6515454 C T snp 3133.77 1/1 99 105 0 105 1.0 exonic rs2289643 KIAA0753 AR nonsynonymous SNV NM_014804 exon8 c.G1330A p.D444N 0.536342 0.7103 0.484856 0.5595 0.6974 0.41 T 0.000 P -0.948 T 0.025 T 0.005 T Pathogenic 17_6524298_T->A 17 6524298 6524298 T A snp 562.77 0/1 99 44 20 24 0.55 exonic rs9889363 KIAA0753 AR nonsynonymous SNV NM_014804 exon7 c.A1125T p.E375D 0.307907 0.3562 0.323270 0.3695 0.3375 0.03 T 1.000 P -1.146 T 0.999 D 0.994 D Pathogenic 17_6524358_G->A 17 6524358 6524358 G A snp 432.77 1/1 33 13 0 13 1.0 intronic rs8074991 KIAA0753 AR NM_014804 exon13 c.41252+40G>A 0.689097 0.7103 0.637052 0.6310 0.7061 Uncertain 17_6531648_A->G 17 6531648 6531648 A G snp 5442.77 1/1 99 186 0 186 1.0 exonic rs2072149 KIAA0753 AR synonymous SNV NM_014804 exon3 c.T507C p.S169S 0.697085 0.7103 0.654314 0.6255 0.6971 Uncertain 17_6544275_T->C 17 6544275 6544275 T C snp 54.74 1/1 6 2 0 2 1.0 UTR5 rs1157901 TXNDC17 AU 0.716254 0.6438 Uncertain 17_6545464_G->T 17 6545464 6545464 G T snp 560.77 0/1 99 51 25 26 0.51 intronic rs2285998 TXNDC17 AU NM_032731 exon3 c.1166-104G>T 0.216653 0.3433 Uncertain 17_6546259_T->C 17 6546259 6546259 T C snp 448.77 0/1 99 47 27 20 0.43 intronic rs2285999 TXNDC17 AU NM_032731 exon4 c.1868-11T>C 0.716054 0.6448 0.703829 0.6402 0.6669 Uncertain 17_6555546_-->G 17 6555546 6555546 - G indel 9064.73 1/1 99 230 0 230 1.0 exonic rs397697335 C17orf100 AU frameshift insertion NM_001105520 exon1 c.314dupG p.R105fs 0.9998 1 0.9991 1 ID=COSM1385595;OCCURENCE=2(large_intestine),3(upper_aerodigestive_tract) Pathogenic 17_6558645_G->A 17 6558645 6558645 G A snp 99.28 1/1 9 3 0 3 1.0 upstream;downstream rs8077691 MIR4520-2;MIR4520-1 UN 0.598442 0.7083 Uncertain 17_6558768_C->T 17 6558768 6558768 C T snp 824.77 1/1 60 27 0 27 1.0 ncRNA_exonic rs8078913 MIR4520-1 AU 0.60024 0.7083 0.5 . Uncertain 17_6562141_G->A 17 6562141 6562141 G A snp 345.77 0/1 99 80 30 50 0.63 ncRNA_exonic rs17842437 ALOX15P1 AU Uncertain 17_6591098_A->T 17 6591098 6591098 A T snp 129.03 1/1 12 4 0 4 1.0 intronic rs218692 SLC13A5 AR NM_177550 exon2 c.1460+113A>T 0.693291 0.8125 Uncertain 17_6593922_T->C 17 6593922 6593922 T C snp 93.28 1/1 9 3 0 3 1.0 intronic rs218696 SLC13A5 AR NM_177550 exon3 c.4572-175T>C 0.710663 0.8165 Uncertain 17_6599365_T->C 17 6599365 6599365 T C snp 139.03 1/1 12 4 0 4 1.0 intronic rs7220915 SLC13A5 AR NM_177550 exon6 c.9735+105T>C 0.363419 0.6101 Uncertain 17_6606554_C->T 17 6606554 6606554 C T snp 738.77 0/1 99 62 34 28 0.45 intronic rs148741545 SLC13A5 AR NM_177550 exon8 c.16932+97C>T 0.0103834 0.0486 Uncertain 17_6606576_C->T 17 6606576 6606576 C T snp 1284.77 1/1 93 37 0 37 1.0 intronic rs16956170 SLC13A5 AR NM_177550 exon8 c.16932+119C>T 0.17472 0.3948 Uncertain 17_6659269_T->G 17 6659269 6659269 T G snp 180.77 0/1 99 21 13 8 0.38 UTR5 rs3785792 XAF1 AU 0.160543 0.1746 Uncertain 17_6659324_A->G 17 6659324 6659324 A G snp 1129.77 1/1 81 40 0 40 1.0 UTR5 rs3785793 XAF1 AU 0.607228 0.6071 0.536575 Uncertain 17_6661584_T->C 17 6661584 6661584 T C snp 556.77 1/1 42 14 0 14 1.0 intronic rs4796550 XAF1 AU NM_017523 exon2 c.2146+41T>C 0.597244 0.6419 0.498385 0.4533 0.6490 Uncertain 17_6662320_G->T 17 6662320 6662320 G T snp 352.78 1/1 27 15 0 15 1.0 intronic rs67528158 XAF1 AU NM_017523 exon3 c.3583-660G>T 0.228035 0.2877 0.3119 0.2895 0.44 T 0.0 P -0.929 T Uncertain 17_6663145_T->- 17 6663145 6663145 T - indel 3623.73 1/1 99 99 0 99 1.0 intronic rs398030250 XAF1 AU NM_017523 exon3 c.3640+108delT 0.313498 0.2937 0.3152 0.3455 Uncertain 17_6663895_C->G 17 6663895 6663895 C G snp 554.77 1/1 42 17 0 17 1.0 exonic rs2271231 XAF1 AU synonymous SNV NM_017523 exon4 c.C396G p.R132R 0.52496 0.5813 0.409888 0.3964 0.5676 Uncertain 17_6683215_C->T 17 6683215 6683215 C T snp 5916.77 1/1 99 214 0 214 1.0 exonic rs4796555 FBXO39 AU nonsynonymous SNV NM_153230 exon2 c.C28T p.P10S 0.324681 0.6151 0.218130 0.2652 0.6123 0.67 T 0.005 P -0.934 T 0.022 T 0.01 T Pathogenic 17_6689975_G->A 17 6689975 6689975 G A snp 332.78 1/1 27 9 0 9 1.0 intronic rs7207814 FBXO39 AU NM_153230 exon3 c.6911-123G>A 0.372604 0.5804 Uncertain 17_6690161_C->T 17 6690161 6690161 C T snp 3910.77 1/1 99 147 0 147 1.0 exonic rs17853331 FBXO39 AU synonymous SNV NM_153230 exon3 c.C1086T p.I362I 0.308307 0.5823 0.204598 0.2561 0.5977 Uncertain 17_6690354_T->A 17 6690354 6690354 T A snp 509.77 1/1 39 13 0 13 1.0 intronic rs28407857 FBXO39 AU NM_153230 exon3 c.7088+79T>A 0.310903 0.5823 Uncertain 17_6690557_A->G 17 6690557 6690557 A G snp 1268.77 1/1 93 40 0 40 1.0 intronic rs60016604 FBXO39 AU NM_153230 exon4 c.7431-61A>G 0.446486 0.5813 Uncertain 17_6690564_T->C 17 6690564 6690564 T C snp 50.77 0/1 79 41 36 5 0.12 intronic FBXO39 AU NM_153230 exon4 c.7431-54T>C Uncertain 17_6690564_-->GC 17 6690564 6690564 - GC indel 292.73 0/1 99 41 13 28 0.68 intronic FBXO39 AU NM_153230 exon4 c.7431-54insGC Uncertain 17_6690566_T->C 17 6690566 6690566 T C snp 832.77 0/1 99 41 9 32 0.78 intronic rs113898791 FBXO39 AU NM_153230 exon4 c.7431-52T>C Uncertain 17_6690568_T->C 17 6690568 6690568 T C snp 1162.77 1/1 47 41 3 38 0.93 intronic rs74442331 FBXO39 AU NM_153230 exon4 c.7431-50T>C 0.291733 0.5556 0.0285 0.1075 Uncertain 17_6690570_T->C 17 6690570 6690570 T C snp 1151.77 1/1 46 41 3 38 0.93 intronic rs74809992 FBXO39 AU NM_153230 exon4 c.7431-48T>C 0.305112 0.5794 0.2069 0.5083 Uncertain 17_6690572_T->C 17 6690572 6690572 T C snp 1231.77 1/1 52 43 3 40 0.93 intronic rs72836242 FBXO39 AU NM_153230 exon4 c.7431-46T>C 0.332867 0.5794 Uncertain 17_6690583_G->A 17 6690583 6690583 G A snp 2548.77 1/1 99 85 0 85 1.0 intronic rs5016848 FBXO39 AU NM_153230 exon4 c.7431-35G>A 0.30631 0.5813 0.205290 0.2552 0.5955 Uncertain 17_6690829_G->A 17 6690829 6690829 G A snp 1811.77 1/1 99 59 0 59 1.0 UTR3 rs4239266 FBXO39 AU 0.386581 0.5813 Uncertain 17_6690854_T->- 17 6690854 6690854 T - indel 1248.73 1/1 90 34 0 34 1.0 UTR3 rs67163717 FBXO39 AU 0.311302 0.5823 Uncertain 17_6690857_A->G 17 6690857 6690857 A G snp 929.77 1/1 69 28 0 28 1.0 UTR3 rs111623068 FBXO39 AU 0.30611 0.5813 Uncertain 17_6690865_-->TC 17 6690865 6690865 - TC indel 1123.73 1/1 72 24 0 24 1.0 UTR3 rs113985581 FBXO39 AU 0.30611 0.5813 Uncertain 17_6704273_G->A 17 6704273 6704273 G A snp 1803.77 0/1 99 157 74 83 0.53 intronic rs2136282 TEKT1 AU NM_053285 exon2 c.917+11G>A 0.236821 0.4157 0.164539 0.2299 0.4242 Uncertain 17_6716242_G->A 17 6716242 6716242 G A snp 1093.77 0/1 99 94 43 51 0.54 exonic rs3744395 TEKT1 AU nonsynonymous SNV NM_053285 exon6 c.C760T p.R254C 0.246406 0.4365 0.178456 0.2285 0.4509 0.12 T 0.998 P -0.939 T 0.037 T 0.035 T Pathogenic 17_6716385_T->C 17 6716385 6716385 T C snp 1564.77 1/1 99 57 0 57 1.0 intronic rs8081510 TEKT1 AU NM_053285 exon3 c.13027+13T>C 0.633586 0.62 0.610026 0.5986 0.6310 Uncertain 17_6719020_A->G 17 6719020 6719020 A G snp 209.77 0/1 99 26 17 9 0.35 intronic rs7213619 TEKT1 AU NM_053285 exon5 c.15807-132A>G 0.152955 0.129 Uncertain 17_6733672_T->C 17 6733672 6733672 T C snp 2936.77 1/1 99 103 0 103 1.0 exonic rs8078571 TEKT1 AU synonymous SNV NM_053285 exon2 c.A24G p.P8P 0.604832 0.5615 0.587267 0.5065 0.5676 Uncertain 17_6899559_C->G 17 6899559 6899559 C G snp 815.77 1/1 60 32 0 32 1.0 exonic rs312467 ALOX12 AU synonymous SNV NM_000697 exon1 c.C123G p.P41P 0.949281 0.996 0.9736 0.9821 Uncertain 17_6900076_G->A 17 6900076 6900076 G A snp 3560.77 1/1 99 120 0 120 1.0 ncRNA_intronic rs2073438 ALOX12-AS1 AU 0.176717 0.3492 Uncertain 17_6900383_T->C 17 6900383 6900383 T C snp 390.77 1/1 30 14 0 14 1.0 ncRNA_intronic rs312468 ALOX12-AS1 AU 0.950479 0.996 0.962504 0.9815 0.9955 Uncertain 17_6902179_G->A 17 6902179 6902179 G A snp 3500.77 1/1 99 122 0 122 1.0 ncRNA_intronic rs312470 ALOX12-AS1 AU 0.79972 0.874 0.840304 0.8592 0.8772 Uncertain 17_6904934_A->G 17 6904934 6904934 A G snp 2527.77 1/1 99 98 0 98 1.0 exonic rs434473 ALOX12 AU nonsynonymous SNV NM_000697 exon8 c.A965G p.N322S 0.341254 0.4712 0.345072 0.3844 0.4915 0.8 T 0.001 P -1.019 T 0.0 T 0.004 T Pathogenic 17_6909379_C->G 17 6909379 6909379 C G snp 315.78 1/1 27 9 0 9 1.0 ncRNA_intronic rs3934010 ALOX12-AS1 AU 0.935304 0.996 0.9345 0.9483 Uncertain 17_6917703_C->T 17 6917703 6917703 C T snp 250.8 1/1 21 8 0 8 1.0 ncRNA_exonic rs7338 RNASEK-C17orf49 AU 0.763778 0.877 0.8393 0.8844 Uncertain 17_6919093_T->C 17 6919093 6919093 T C snp 3073.77 1/1 99 105 0 105 1.0 exonic rs14309 C17orf49 AU synonymous SNV NM_001142798 exon3 c.T117C p.G39G 0.757388 0.877 0.772259 0.8132 0.8826 0.711 P -1.043 T Likely benign 17_6919232_A->C 17 6919232 6919232 A C snp 1067.77 0/1 99 76 33 43 0.57 ncRNA_exonic rs1530377 MIR497HG AU 0.019369 0.0952 0.000308 0.0069 0.0966 Uncertain 17_6927350_A->G 17 6927350 6927350 A G snp 1010.77 1/1 72 35 0 35 1.0 intronic rs312461 BCL6B AU NM_181844 exon3 c.411-51A>G 0.964856 0.996 0.970352 Uncertain 17_6928019_-->CAG 17 6928019 6928019 - CAG indel 4623.73 1/1 99 137 1 136 0.99 exonic rs146207245 BCL6B AU nonframeshift insertion NM_181844 exon4 c.701_702insCAG p.S234delinsSS 0.66234 0.7232 0.5955 0.6380 ID=COSM983707,COSM983708;OCCURENCE=5(endometrium),6(breast) Uncertain 17_6929924_T->C 17 6929924 6929924 T C snp 6532.77 1/1 99 232 0 232 1.0 exonic rs379478 BCL6B AU synonymous SNV NM_181844 exon6 c.T1038C p.H346H 0.959864 0.996 0.962474 0.9877 0.9961 Uncertain 17_6933217_T->G 17 6933217 6933217 T G snp 868.77 1/1 63 30 0 30 1.0 downstream rs421264 BCL6B AU 0.960463 0.996 Uncertain 17_6940065_G->A 17 6940065 6940065 G A snp 1975.77 0/1 99 149 72 77 0.52 exonic rs3744396 SLC16A13 AU synonymous SNV NM_201566 exon2 c.G219A p.L73L 0.0219649 0.1062 0.000308 0.0078 0.1056 Uncertain 17_6940393_G->A 17 6940393 6940393 G A snp 44.74 1/1 6 2 0 2 1.0 intronic rs312457 SLC16A13 AU NM_201566 exon2 c.488+204G>A 0.908546 0.9008 Uncertain 17_6942108_C->T 17 6942108 6942108 C T snp 2968.77 0/1 99 250 134 116 0.46 exonic rs11078663 SLC16A13 AU synonymous SNV NM_201566 exon3 c.C981T p.S327S 0.352037 0.5149 0.441489 0.5024 0.5089 Uncertain 17_6943266_G->A 17 6943266 6943266 G A snp 1674.77 1/1 99 59 0 59 1.0 exonic rs4796576 SLC16A13 AU synonymous SNV NM_201566 exon4 c.G1266A p.G422G 0.559704 0.7758 0.597878 0.6160 0.7740 Uncertain 17_6981397_A->G 17 6981397 6981397 A G snp 1499.77 0/1 99 147 82 65 0.44 exonic rs90951 CLEC10A AU nonsynonymous SNV NM_006344 exon3 c.T103C p.C35R 0.519968 0.4702 0.512148 0.3944 0.4919 0.19 T 0.0 P -1.072 T 0.003 T 0.036 T Pathogenic 17_7011065_CACACTACACACACCGCACACGTA->- 17 7011065 7011088 CACACTACACACACCGCACACGTA - indel 10334.7 1/1 99 89 0 89 1.0 intronic rs199979065 ASGR2 AU NM_080912 exon5 c.6261-89_6261-66delCACACTACACACACCGCACACGTA 0.5702 0.5267 Uncertain 17_7011144_G->A 17 7011144 7011144 G A snp 4046.77 1/1 99 152 0 152 1.0 intronic rs62058755 ASGR2 AU NM_080912 exon5 c.6261-10G>A 0.294928 0.3333 0.340228 0.3576 0.3025 Uncertain 17_7011722_G->A 17 7011722 7011722 G A snp 1026.77 1/1 75 35 0 35 1.0 intronic rs62061385 ASGR2 AU NM_080912 exon6 c.6887-58G>A 0.19389 0.3105 Uncertain 17_7017350_A->G 17 7017350 7017350 A G snp 1725.77 1/1 99 59 0 59 1.0 intronic rs10459915 ASGR2 AU NM_080912 exon8 c.12542-85A>G 0.138379 0.2212 Uncertain 17_7017420_G->A 17 7017420 7017420 G A snp 2501.77 1/1 99 96 1 95 0.99 intronic rs10459916 ASGR2 AU NM_080912 exon8 c.12542-15G>A 0.302915 0.378 0.309780 0.2824 0.3595 Uncertain 17_7080111_-->CA 17 7080111 7080111 - CA indel 512.73 0/1 99 32 15 17 0.53 intronic rs145025195 ASGR1 AU NM_001197216 exon5 c.3171-37insCA 0.0486 0.1289 Uncertain 17_7127937_A->C 17 7127937 7127937 A C snp 51.77 0/1 80 30 18 12 0.4 intronic ACADVL AR NM_000018 exon18 c.4657-23A>C 0.0012 0.0038 Uncertain 17_7139238_G->A 17 7139238 7139238 G A snp 3222.65 0/1 99 250 122 128 0.51 intronic rs222851 PHF23 AU NM_001284517 exon2 c.304-10G>A 0.513978 0.623 0.446861 0.4236 0.6283 Uncertain 17_7140606_A->G 17 7140606 7140606 A G snp 801.77 0/1 99 64 31 33 0.52 intronic rs222852 PHF23 AU NM_001284517 exon3 c.1759-97A>G 0.534944 0.623 Uncertain 17_7145492_-->A 17 7145492 7145492 - A indel 2114.73 0/1 99 141 83 58 0.41 intronic rs58574748 GABARAP AU NM_007278 exon4 c.1387-67insA 0.842053 0.7619 Uncertain 17_7150552_A->G 17 7150552 7150552 A G snp 870.77 0/1 99 77 36 41 0.53 intronic rs2074217 CTDNEP1 AU NM_001143775 exon7 c.3092-43A>G 0.611222 0.3909 0.667999 0.6154 0.3852 Uncertain 17_7154534_G->A 17 7154534 7154534 G A snp 1825.77 0/1 99 192 108 84 0.44 exonic rs414206 CTDNEP1 AU synonymous SNV NM_001143775 exon1 c.C82T p.L28L 0.701078 0.6498 0.693799 0.6607 0.6522 Uncertain 17_7156186_A->G 17 7156186 7156186 A G snp 2856.77 0/1 99 250 138 112 0.45 intronic rs2074218 ELP5 AU NM_015362 exon3 c.328+37A>G 0.483427 0.3889 0.540289 0.5765 0.3798 Uncertain 17_7156447_A->G 17 7156447 7156447 A G snp 660.77 0/1 99 43 22 21 0.49 intronic rs2074219 ELP5 AU NM_015362 exon4 c.496+130A>G 0.701478 0.6498 Uncertain 17_7158203_T->G 17 7158203 7158203 T G snp 2108.77 0/1 99 183 100 83 0.45 intronic rs402514 ELP5 AU NM_015362 exon5 c.2301+81T>G 0.702676 0.6498 0.6865 0.6739 Uncertain 17_7163739_A->G 17 7163739 7163739 A G snp 2011.77 0/1 99 179 93 86 0.48 exonic rs4562 CLDN7 AU nonsynonymous SNV NM_001307 exon4 c.T590C p.V197A 0.703674 0.6488 0.696755 0.6591 0.6527 0.57 T 0.000 P -0.952 T 0.0 T 0.0 T Pathogenic 17_7165396_G->- 17 7165396 7165396 G - indel 688.73 0/1 99 55 25 30 0.55 UTR5 rs56219105 CLDN7 AU 0.583866 0.3879 0.642018 0.6512 0.4487 Uncertain 17_7185062_C->A 17 7185062 7185062 C A snp 128.03 1/1 12 4 0 4 1.0 UTR5 rs5417 SLC2A4 AU 0.424321 0.3849 Uncertain 17_7185092_G->A 17 7185092 7185092 G A snp 487.77 0/1 59 18 3 15 0.83 UTR5 rs5418 SLC2A4 AU 0.423722 0.3819 Uncertain 17_7185788_T->C 17 7185788 7185788 T C snp 3576.77 1/1 99 130 0 130 1.0 intronic rs222848 SLC2A4 AU NM_001042 exon1 c.33+502T>C 0.999201 1 0.9994 1 Uncertain 17_7185861_T->C 17 7185861 7185861 T C snp 1110.77 0/1 99 125 72 53 0.42 intronic rs222849 SLC2A4 AU NM_001042 exon1 c.33+575T>C 0.696885 0.624 Uncertain 17_7187123_T->C 17 7187123 7187123 T C snp 2057.77 0/1 99 176 91 85 0.48 exonic rs5435 SLC2A4 AU synonymous SNV NM_001042 exon4 c.T390C p.N130N 0.697484 0.625 0.698062 0.6525 0.6401 Uncertain 17_7192091_C->T 17 7192091 7192091 C T snp 853.77 0/1 99 76 36 40 0.53 UTR3 rs222842 YBX2 AU 0.473442 0.3571 0.604413 0.6292 0.3385 Uncertain 17_7192198_T->G 17 7192198 7192198 T G snp 971.77 0/1 99 61 22 39 0.64 intronic rs222841 YBX2 AU NM_015982 exon2 c.51+41T>G 0.473842 0.3601 0.604183 0.6315 0.3542 Uncertain 17_7192696_G->A 17 7192696 7192696 G A snp 43.77 0/1 72 4 2 2 0.5 intronic rs1910323 YBX2 AU NM_015982 exon3 c.742-152G>A 0.354233 0.3373 Uncertain 17_7192701_G->T 17 7192701 7192701 G T snp 43.77 0/1 72 4 2 2 0.5 intronic rs222839 YBX2 AU NM_015982 exon3 c.742-147G>T 0.473043 0.3562 Uncertain 17_7193060_A->G 17 7193060 7193060 A G snp 346.77 0/1 99 60 45 15 0.25 intronic rs55781423 YBX2 AU NM_015982 exon3 c.938+16A>G 0.503195 0.3562 0.634210 0.6358 0.3358 Uncertain 17_7193255_G->A 17 7193255 7193255 G A snp 135.77 0/1 99 34 27 7 0.21 intronic rs3744405 YBX2 AU NM_015982 exon4 c.1180-31G>A 0.363219 0.3373 0.447352 0.4538 0.3246 Uncertain 17_7193448_A->G 17 7193448 7193448 A G snp 1422.77 0/1 99 127 62 65 0.51 intronic rs222838 YBX2 AU NM_015982 exon4 c.1284+58A>G 0.472843 0.3562 Uncertain 17_7194010_C->T 17 7194010 7194010 C T snp 58.77 0/1 87 11 8 3 0.27 intronic rs2521992 YBX2 AU NM_015982 exon5 c.1748+156C>T 0.480831 0.3532 Uncertain 17_7213579_A->G 17 7213579 7213579 A G snp 1020.77 0/1 99 94 53 41 0.44 intronic rs73977632 EIF5A AU NM_001970 exon2 c.165+460A>G 0.141973 0.2014 0.1118 0.1667 Uncertain 17_7213694_C->A 17 7213694 7213694 C A snp 244.77 0/1 99 23 12 11 0.48 intronic rs4796399 EIF5A AU NM_001970 exon2 c.165+575C>A 0.386581 0.4931 Uncertain 17_7214824_C->T 17 7214824 7214824 C T snp 4638.77 1/1 99 172 1 171 0.99 intronic rs11658072 EIF5A AU NM_001970 exon4 c.1846+24C>T 0.732428 0.9464 0.618253 0.6773 0.9561 Uncertain 17_7217367_C->T 17 7217367 7217367 C T snp 1148.77 0/1 99 103 53 50 0.49 intronic rs57589460 GPS2 AU NM_004489 exon7 c.1324-31C>T 0.00159744 0.0079 0.0005 0.0065 Uncertain 17_7217463_T->C 17 7217463 7217463 T C snp 2915.77 1/1 99 103 0 103 1.0 exonic rs2292064 GPS2 AU synonymous SNV NM_004489 exon5 c.A333G p.L111L 0.57488 0.6796 0.509380 0.5535 0.6649 Uncertain 17_7217498_G->- 17 7217498 7217498 G - indel 1230.73 0/1 99 100 63 37 0.37 intronic rs3215130 GPS2 AU NM_004489 exon7 c.1404+20delG 0.11861 0.1815 0.073003 0.0732 0.1739 Uncertain 17_7218538_G->A 17 7218538 7218538 G A snp 43.77 0/1 72 6 3 3 0.5 intronic rs2279818 GPS2 AU NM_004489 exon10 c.2364+100G>A 0.21266 0.3819 Uncertain 17_7221385_G->A 17 7221385 7221385 G A snp 5749.77 1/1 99 185 0 185 1.0 exonic rs1127440 NEURL4 AU synonymous SNV NM_001005408 exon25 c.C4053T p.P1351P 0.705272 0.9286 0.589160 0.6311 0.9348 Uncertain 17_7221539_G->C 17 7221539 7221539 G C snp 2024.77 0/1 99 154 77 77 0.5 intronic rs73977637 NEURL4 AU NM_032442 exon6 c.2146-48G>C 0.114018 0.1835 0.065290 0.0724 0.1796 Uncertain 17_7221544_T->C 17 7221544 7221544 T C snp 4762.77 1/1 99 153 0 153 1.0 intronic rs7222233 NEURL4 AU NM_032442 exon6 c.2146-43T>C 0.70607 0.9306 0.590320 0.6321 0.9364 Uncertain 17_7221707_G->T 17 7221707 7221707 G T snp 7779.77 1/1 99 248 0 248 1.0 intronic rs7216490 NEURL4 AU NM_032442 exon6 c.2234+32G>T 0.549321 0.6746 0.473254 0.5460 0.6526 Uncertain 17_7224319_T->C 17 7224319 7224319 T C snp 1021.77 1/1 75 28 0 28 1.0 intronic rs3809811 NEURL4 AU NM_032442 exon9 c.4801+77T>C 0.578075 0.6736 Uncertain 17_7224921_C->G 17 7224921 7224921 C G snp 2249.77 0/1 99 206 113 93 0.45 exonic rs3809813 NEURL4 AU nonsynonymous SNV NM_001005408 exon18 c.G3051C p.Q1017H 0.205471 0.3819 0.098987 0.1931 0.3664 0.55 T 0.119 P -0.915 T 0.79 T 0.135 P Pathogenic 17_7225149_C->G 17 7225149 7225149 C G snp 3147.77 0/1 99 250 128 122 0.49 intronic rs3809814 NEURL4 AU NM_032442 exon13 c.5742-34C>G 0.370282 0.4630 0.4728 Uncertain 17_7225425_T->C 17 7225425 7225425 T C snp 2758.77 1/1 99 85 0 85 1.0 intronic rs2062771 NEURL4 AU NM_032442 exon13 c.5888+96T>C 0.994808 1 Uncertain 17_7226712_T->C 17 7226712 7226712 T C snp 807.77 0/1 99 63 32 31 0.49 intronic rs2270982 NEURL4 AU NM_032442 exon16 c.7362-91T>C 0.115415 0.1845 Uncertain 17_7228479_C->T 17 7228479 7228479 C T snp 41.74 1/1 6 2 0 2 1.0 intronic rs201566486 NEURL4 AU NM_032442 exon22 c.9086-48C>T 0.45647 0.5992 0.103526 0.6009 0.7064 Uncertain 17_7229545_C->T 17 7229545 7229545 C T snp 770.77 0/1 99 72 40 32 0.44 intronic rs59200234 NEURL4 AU NM_032442 exon24 c.10132-28C>T 0.11881 0.1845 0.068711 0.0833 0.2084 Uncertain 17_7231236_T->C 17 7231236 7231236 T C snp 715.77 0/1 99 43 18 25 0.58 intronic rs33998041 NEURL4 AU NM_032442 exon28 c.11762+33T>C 0.261781 0.377 0.143404 0.2756 0.4632 Uncertain 17_7246851_C->T 17 7246851 7246851 C T snp 1336.77 0/1 99 86 33 53 0.62 exonic rs3809828 ACAP1 AU synonymous SNV NM_014716 exon6 c.C498T p.Y166Y 0.0533147 0.127 0.042750 0.0651 0.1517 Uncertain 17_7246940_T->G 17 7246940 7246940 T G snp 2897.77 1/1 99 103 0 103 1.0 intronic rs3809829 ACAP1 AU NM_014716 exon6 c.6828+59T>G 0.597644 0.4415 Uncertain 17_7251605_G->C 17 7251605 7251605 G C snp 2520.77 0/1 99 182 80 102 0.56 intronic rs2292066 ACAP1 AU NM_014716 exon17 c.11571-19G>C 0.494609 0.1845 0.622405 0.5657 0.2172 Uncertain 17_7253659_T->C 17 7253659 7253659 T C snp 83.77 0/1 69 5 2 3 0.6 intronic rs2292068 ACAP1 AU NM_014716 exon20 c.13503+103T>C 0.50639 0.1786 Uncertain 17_7258861_C->A 17 7258861 7258861 C A snp 804.77 0/1 99 64 32 32 0.5 intronic rs9895595 TMEM95 AU NM_198154 exon2 c.381-43C>A 0.0960463 0.1448 0.074957 0.0735 0.1641 Uncertain 17_7259073_C->T 17 7259073 7259073 C T snp 311.77 0/1 99 24 13 11 0.46 intronic rs6503016 TMEM95 AU NM_198154 exon3 c.633-83C>T 0.500998 0.3661 Uncertain 17_7259083_-->G 17 7259083 7259083 - G indel 330.73 0/1 99 28 15 13 0.46 intronic rs144825300 TMEM95 AU NM_198154 exon3 c.633-73insG 0.346645 0.3641 Uncertain 17_7259668_T->C 17 7259668 7259668 T C snp 1242.77 0/1 99 112 64 48 0.43 intronic rs3744406 TMEM95 AU NM_198154 exon6 c.1187-42T>C 0.102037 0.1419 0.089805 0.0800 0.1783 Uncertain 17_7286266_C->T 17 7286266 7286266 C T snp 4494.77 1/1 99 158 1 157 0.99 exonic rs1554947 TNK1 AU synonymous SNV NM_001251902 exon2 c.C21T p.S7S 0.273962 0.4593 0.293480 0.3601 0.4754 Uncertain 17_7288085_C->T 17 7288085 7288085 C T snp 1279.77 0/1 99 93 45 48 0.52 intronic rs7223885 TNK1 AU NM_003985 exon7 c.1828+12C>T 0.140575 0.3016 0.082381 0.1620 0.3946 Uncertain 17_7288228_C->T 17 7288228 7288228 C T snp 221.77 0/1 99 14 7 7 0.5 intronic rs7208523 TNK1 AU NM_003985 exon7 c.1828+155C>T 0.179313 0.3006 Uncertain 17_7290695_A->G 17 7290695 7290695 A G snp 1960.77 0/1 99 157 76 81 0.52 splicing rs7220814 TNK1 AU NM_003985 exon10 c.4451-1A>G 0.0772764 0.1786 0.044760 0.0932 0.2384 1.0 P Pathogenic 17_7290821_T->C 17 7290821 7290821 T C snp 1614.77 0/1 99 121 55 66 0.55 intronic rs968580 TNK1 AU NM_003985 exon10 c.4531+45T>C 0.437101 0.6458 0.398069 0.4799 0.6045 Uncertain 17_7292107_G->A 17 7292107 7292107 G A snp 1623.77 0/1 99 141 76 65 0.46 exonic rs6503018 TNK1 AU nonsynonymous SNV NM_001251902 exon12 c.G1792A p.V598M 0.725639 0.7718 0.821759 0.8661 0.7625 0.998 P -1.020 T 0.208 T 0.179 T Pathogenic 17_7292381_G->A 17 7292381 7292381 G A snp 765.77 0/1 99 69 37 32 0.46 exonic rs559780862 TNK1 AU nonsynonymous SNV NM_001251902 exon13 c.G1979A p.R660H 0.000399361 9.522e-05 0 0.05 T 0.949 D 0.098 D 1.0 D 0.966 D Pathogenic 17_7297121_G->A 17 7297121 7297121 G A snp 118.77 0/1 99 13 7 6 0.46 exonic rs2277641 PLSCR3 AU synonymous SNV NM_001201576 exon3 c.C42T p.P14P 0.033746 0.0863 0.015700 0.0307 0.1346 Uncertain 17_7317647_-->C 17 7317647 7317647 - C indel 3757.73 1/1 99 107 0 107 1.0 intronic rs397729020 NLGN2 AU NM_020795 exon3 c.6088-15insC 1 1 0.999840 0.9999 1 Uncertain 17_7318396_C->T 17 7318396 7318396 C T snp 3841.77 1/1 99 137 0 137 1.0 exonic rs2241233 NLGN2 AU synonymous SNV NM_020795 exon5 c.C966T p.S322S 0.76897 0.9534 0.743580 0.8283 0.9405 Uncertain 17_7318559_G->A 17 7318559 7318559 G A snp 949.77 1/1 72 30 0 30 1.0 intronic rs6503019 NLGN2 AU NM_020795 exon5 c.6893+92G>A 0.956869 1 Uncertain 17_7318935_C->T 17 7318935 7318935 C T snp 3519.77 0/1 99 250 109 141 0.56 exonic rs12947017 NLGN2 AU synonymous SNV NM_020795 exon6 c.C1143T p.G381G 0.192292 0.1835 0.309780 0.2983 0.1890 Uncertain 17_7320142_C->T 17 7320142 7320142 C T snp 332.77 0/1 99 14 4 10 0.71 intronic rs3752031 NLGN2 AU NM_020795 exon7 c.8670-102C>T 0.423722 0.7738 Uncertain 17_7349646_C->G 17 7349646 7349646 C G snp 90.28 1/1 9 3 0 3 1.0 intronic rs5025361 CHRNB1 AR,AD NM_000747 exon3 c.986+214C>G Uncertain 17_7349650_G->C 17 7349650 7349650 G C snp 96.28 1/1 9 3 0 3 1.0 intronic rs199646245 CHRNB1 AR,AD NM_000747 exon3 c.986+218G>C Uncertain 17_7358803_G->A 17 7358803 7358803 G A snp 1210.77 1/1 87 43 0 43 1.0 intronic rs7214344 CHRNB1 AR,AD NM_000747 exon9 c.10329+28G>A 0.967053 1 0.967092 0.9909 1 Uncertain 17_7360110_T->C 17 7360110 7360110 T C snp 4032.77 1/1 99 123 0 123 1.0 UTR3 rs2302764 CHRNB1 AR,AD 0.305711 0.6538 Uncertain 17_7367365_G->A 17 7367365 7367365 G A snp 50.74 1/1 6 2 0 2 1.0 intronic rs3867593 ZBTB4 AU NM_020899 exon1 c.1951+156G>A 0.732827 0.8185 Uncertain 17_7385174_G->C 17 7385174 7385174 G C snp 344.78 1/1 27 9 0 9 1.0 intronic rs8065577 SLC35G6 AU NM_001102614 exon2 c.471-132G>C 0.746406 0.9187 Uncertain 17_7400041_C->T 17 7400041 7400041 C T snp 3312.77 1/1 99 112 0 112 1.0 intronic rs9890920 POLR2A AU NM_000937 exon5 c.11999-41C>T 0.741014 0.9187 0.700523 0.7603 0.9093 Uncertain 17_7400137_T->C 17 7400137 7400137 T C snp 6988.77 1/1 99 250 0 250 1.0 exonic rs9898024 POLR2A AU synonymous SNV NM_000937 exon5 c.T592C p.L198L 0.973243 1 0.975012 0.9930 1 Uncertain 17_7400448_G->C 17 7400448 7400448 G C snp 244.8 1/1 21 7 0 7 1.0 intronic rs4632183 POLR2A AU NM_000937 exon5 c.12281+84G>C 0.728834 0.9187 Uncertain 17_7401335_-->GCTCTGGGGT 17 7401335 7401335 - GCTCTGGGGT indel 4203.73 0/1 99 104 69 35 0.34 intronic rs111845660 POLR2A AU NM_000937 exon8 c.13313-61insGCTCTGGGGT Uncertain 17_7402137_T->C 17 7402137 7402137 T C snp 164.9 1/1 15 6 0 6 1.0 intronic rs4796431 POLR2A AU NM_000937 exon9 c.14274-220T>C 0.973243 1 Uncertain 17_7402556_G->A 17 7402556 7402556 G A snp 7415.77 1/1 99 250 0 250 1.0 intronic rs2277638 POLR2A AU NM_000937 exon10 c.14516-43G>A 0.738019 0.9236 0.704982 0.7572 0.9125 Uncertain 17_7402600_T->C 17 7402600 7402600 T C snp 7904.77 1/1 99 250 0 250 1.0 exonic rs2228129 POLR2A AU synonymous SNV NM_000937 exon10 c.T1461C p.S487S 0.740016 0.9236 0.705982 0.7569 0.9135 Uncertain 17_7403942_A->C 17 7403942 7403942 A C snp 393.77 1/1 30 14 0 14 1.0 intronic rs12936464 POLR2A AU NM_000937 exon11 c.15874-15A>C 0.772963 0.9772 0.736660 0.7866 0.9674 Uncertain 17_7404107_T->C 17 7404107 7404107 T C snp 5938.77 1/1 99 223 0 223 1.0 exonic rs7217707 POLR2A AU synonymous SNV NM_000937 exon11 c.T1821C p.S607S 0.973243 1 0.974935 0.9930 1 Uncertain 17_7404209_G->A 17 7404209 7404209 G A snp 5552.77 1/1 99 194 0 194 1.0 intronic rs6503030 POLR2A AU NM_000937 exon11 c.16084+42G>A 0.972045 1 0.974550 0.9928 1 Uncertain 17_7404991_T->C 17 7404991 7404991 T C snp 3435.77 1/1 99 123 0 123 1.0 exonic rs2228130 POLR2A AU synonymous SNV NM_000937 exon14 c.T2292C p.N764N 0.913738 0.9464 0.911425 0.9561 0.9455 Uncertain 17_7405074_C->T 17 7405074 7405074 C T snp 2223.77 1/1 99 75 0 75 1.0 intronic rs8075218 POLR2A AU NM_000937 exon14 c.16965+26C>T 0.74361 0.9236 0.705231 0.7598 0.9131 Uncertain 17_7406134_A->G 17 7406134 7406134 A G snp 224.84 1/1 18 6 0 6 1.0 intronic rs11658168 POLR2A AU NM_000937 exon16 c.17937+114A>G 0.59405 0.7887 Uncertain 17_7406343_T->C 17 7406343 7406343 T C snp 556.77 1/1 42 15 0 15 1.0 intronic rs9890028 POLR2A AU NM_000937 exon17 c.18356-96T>C 0.973043 1 Uncertain 17_7411855_A->G 17 7411855 7411855 A G snp 891.77 1/1 69 26 0 26 1.0 intronic rs4796432 POLR2A AU NM_000937 exon20 c.23711+61A>G 0.870208 0.9474 Uncertain 17_7412212_A->G 17 7412212 7412212 A G snp 2475.77 1/1 99 75 0 75 1.0 intronic rs9889368 POLR2A AU NM_000937 exon21 c.24179-50A>G 0.724641 0.9722 0.680763 0.7569 0.9638 Uncertain 17_7413038_A->G 17 7413038 7413038 A G snp 1046.77 0/1 99 83 38 45 0.54 intronic rs2269459 POLR2A AU NM_000937 exon22 c.24868+87A>G 0.424121 0.1637 Uncertain 17_7413057_C->T 17 7413057 7413057 C T snp 1864.77 1/1 99 64 0 64 1.0 intronic rs7213878 POLR2A AU NM_000937 exon22 c.24868+106C>T 0.736621 0.9931 Uncertain 17_7413120_A->G 17 7413120 7413120 A G snp 437.53 0/1 3 14 1 13 0.93 intronic rs7218412 POLR2A AU NM_000937 exon22 c.24868+169A>G 1 1 Uncertain 17_7414958_G->C 17 7414958 7414958 G C snp 43.77 0/1 66 4 2 2 0.5 intronic rs2071502 POLR2A AU NM_000937 exon24 c.26824+51G>C 0.488419 0.6151 0.522224 0.5613 0.5555 Uncertain 17_7416683_A->G 17 7416683 7416683 A G snp 8118.77 1/1 99 250 1 249 1.0 exonic rs9894023 POLR2A AU synonymous SNV NM_000937 exon29 c.A5100G p.S1700S 1 1 0.999231 0.9999 1 Uncertain 17_7417086_G->A 17 7417086 7417086 G A snp 5328.77 1/1 99 196 2 194 0.99 exonic rs4344809 POLR2A AU nonsynonymous SNV NM_000937 exon29 c.G5503A p.A1835T 0.9998 1 0.999923 0.9999 0.9999 1 T 1.000 P -0.960 T 0.0 T 0.0 T Pathogenic 17_7417551_T->C 17 7417551 7417551 T C snp 1078.77 1/1 81 32 0 32 1.0 UTR3 rs9533 POLR2A AU 0.745208 0.9782 Uncertain 17_7452542_C->T 17 7452542 7452542 C T snp 580.77 0/1 99 40 15 25 0.63 exonic rs77711855 TNFSF12 AU synonymous SNV NM_003809 exon1 c.C72T p.L24L 0.111821 0.1151 0.079946 0.2338 0.2857 Uncertain 17_7452977_C->T 17 7452977 7452977 C T snp 1379.77 1/1 99 49 0 49 1.0 intronic rs9899183 TNFSF12 AU NM_003809 exon2 c.368+139C>T 0.836861 0.999 Uncertain 17_7460517_G->C 17 7460517 7460517 G C snp 1010.77 0/1 99 88 49 39 0.44 exonic rs3803798 TNFSF12 AU synonymous SNV NM_003809 exon7 c.G600C p.A200A 0.547524 0.6458 0.500384 0.5437 0.6084 Uncertain 17_7460559_T->G 17 7460559 7460559 T G snp 2673.77 1/1 99 89 0 89 1.0 exonic rs4968189 TNFSF12 AU synonymous SNV NM_003809 exon7 c.T642G p.G214G 0.980032 1 0.980163 0.9947 0.9999 Uncertain 17_7460758_G->A 17 7460758 7460758 G A snp 128.77 0/1 99 16 9 7 0.44 UTR3 rs28362665 TNFSF12 AU 0.0672923 0.1131 Uncertain 17_7462555_G->A 17 7462555 7462555 G A snp 737.77 1/1 54 24 0 24 1.0 exonic rs11552708 TNFSF13 AU nonsynonymous SNV NM_003808 exon1 c.G199A p.G67R 0.13778 0.3026 0.101115 0.1414 0.3425 0.58 T 0.000 P -0.972 T 0.001 T 0.002 T ID=CM129977;DIS=Serum IgM levels, association with;TAG=DP;PUB=23118916 DP Pathogenic 17_7462969_A->G 17 7462969 7462969 A G snp 3745.77 1/1 99 137 0 137 1.0 exonic rs3803800 TNFSF12-TNFSF13 AU nonsynonymous SNV NM_003808 exon2 c.A287G p.N96S 0.559704 0.6498 0.646778 0.6949 0.6315 1 T 1.000 P -0.902 T 0.036 T 0.03 T Pathogenic 17_7463645_CAA->- 17 7463645 7463647 CAA - indel 3107.73 0/1 99 108 47 61 0.56 intronic rs58840546 TNFSF12-TNFSF13 AU NM_172089 exon10 c.11196-21_11196-19delCAA 0.126997 0.1548 0.079978 0.0875 0.1569 Uncertain 17_7468216_T->C 17 7468216 7468216 T C snp 2233.77 0/1 99 177 80 97 0.55 ncRNA_intronic rs4968212 SENP3-EIF4A1 AU 0.586661 0.5615 0.642636 0.6666 0.5645 Uncertain 17_7469229_C->T 17 7469229 7469229 C T snp 215.77 0/1 99 18 11 7 0.39 ncRNA_intronic rs11078697 SENP3-EIF4A1 AU 0.0617013 0.2063 Uncertain 17_7470286_A->- 17 7470286 7470286 A - indel 4251.73 1/1 99 107 0 107 1.0 ncRNA_exonic;splicing rs398030265 SENP3-EIF4A1;SENP3 UN 1 1 Uncertain 17_7474277_C->T 17 7474277 7474277 C T snp 328.77 0/1 99 24 12 12 0.5 ncRNA_intronic rs4968213 SENP3-EIF4A1 AU 0.727835 0.5615 0.874736 0.8558 0.5743 Uncertain 17_7477938_G->C 17 7477938 7477938 G C snp 300.78 1/1 24 11 0 11 1.0 exonic rs1057086 EIF4A1 AU synonymous SNV NM_001204510 exon3 c.G147C p.A49A 0.796725 0.7688 0.882728 0.8952 0.7878 Uncertain 17_7479892_C->T 17 7479892 7479892 C T snp 1192.77 0/1 99 117 66 51 0.44 exonic rs11078698 EIF4A1 AU synonymous SNV NM_001204510 exon5 c.C396T p.H132H 0.0642971 0.2054 0.015301 0.0464 0.2225 Uncertain 17_7480547_T->A 17 7480547 7480547 T A snp 1478.77 0/1 99 125 54 71 0.57 ncRNA_intronic rs2270341 SENP3-EIF4A1 AU 0.450479 0.4692 Uncertain 17_7484101_C->A 17 7484101 7484101 C A snp 2303.77 0/1 99 202 109 93 0.46 exonic rs9901673 CD68 AU nonsynonymous SNV NM_001040059 exon4 c.C679A p.Q227K 0.157548 0.1567 0.171459 0.1545 0.1605 0.14 T 0.121 P -1.089 T 0.012 T 0.023 T Pathogenic 17_7487108_A->G 17 7487108 7487108 A G snp 798.77 0/1 99 48 24 24 0.5 UTR5 rs2075230 MPDU1 AR 0.240615 0.3056 0.1955 0.3571 Uncertain 17_7490379_G->C 17 7490379 7490379 G C snp 1167.77 0/1 99 84 43 41 0.49 intronic rs2302661 MPDU1 AR NM_004870 exon5 c.3155+44G>C 0.446486 0.4673 0.484385 0.5415 0.4470 Uncertain 17_7490810_G->A 17 7490810 7490810 G A snp 2106.77 0/1 99 183 88 95 0.52 exonic rs10852891 MPDU1 AR nonsynonymous SNV NM_004870 exon7 c.G685A p.A229T 0.15615 0.1567 0.170460 0.1540 0.1596 0.2 T 1.000 P -1.090 T 0.602 T 0.043 P CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000081188.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 17_7491177_G->T 17 7491177 7491177 G T snp 141.03 1/1 12 4 0 4 1.0 UTR3 rs4227 MPDU1 AR 0.681909 0.7609 0.8095 0.7907 Uncertain 17_7499382_A->G 17 7499382 7499382 A G snp 299.77 0/1 99 18 7 11 0.61 intronic rs858526 FXR2 AU NM_004860 exon10 c.4165+70A>G 0.444688 0.4722 Uncertain 17_7504858_G->A 17 7504858 7504858 G A snp 289.77 0/1 99 36 22 14 0.39 intronic rs17643401 FXR2 AU NM_004860 exon11 c.9696+15G>A 0.150359 0.1587 0.173884 0.1647 0.1604 Uncertain 17_7531252_-->C 17 7531252 7531252 - C indel 341.73 0/1 99 49 30 19 0.39 upstream rs148963195 SAT2 AU 0.403554 0.5437 0.3292 0.4808 Uncertain 17_7534271_C->T 17 7534271 7534271 C T snp 82.28 1/1 9 3 0 3 1.0 intronic rs858517 SHBG AU NM_001040 exon3 c.697+84C>T 0.979034 1 Uncertain 17_7536527_G->A 17 7536527 7536527 G A snp 945.77 0/1 99 119 74 45 0.38 exonic rs6259 SHBG AU nonsynonymous SNV NM_001040 exon8 c.G1066A p.D356N 0.0652955 0.1161 0.092419 0.0899 0.1170 0.5 T 0.000 P -1.060 T 0.006 T 0.002 T ID=CM994728;DIS=Breast cancer, oestrogen-dependence, association with;TAG=DP;PUB=10424400 DP Pathogenic 17_7554772_C->T 17 7554772 7554772 C T snp 234.77 0/1 99 26 13 13 0.5 UTR5 rs1642762 ATP1B2 AU 0.383786 0.4891 Uncertain 17_7557419_A->G 17 7557419 7557419 A G snp 2851.77 0/1 99 229 110 119 0.52 exonic rs1642763 ATP1B2 AU synonymous SNV NM_001303263 exon3 c.A150G p.G50G 0.789936 0.6687 0.800554 0.7709 0.6642 Uncertain 17_7557657_G->C 17 7557657 7557657 G C snp 94.77 0/1 99 10 6 4 0.4 intronic ATP1B2 AU NM_001303263 exon3 c.412+82G>C Uncertain 17_7557834_C->T 17 7557834 7557834 C T snp 355.77 0/1 99 33 19 14 0.42 intronic rs1642764 ATP1B2 AU NM_001303263 exon4 c.782-111C>T 0.419129 0.5853 Uncertain 17_7577407_A->C 17 7577407 7577407 A C snp 115.77 0/1 99 18 12 6 0.33 intronic rs12951053 TP53 AR,AD,AO,AU NM_001276761 exon5 c.4572-91A>C 0.178315 0.3234 Uncertain 17_7577427_G->A 17 7577427 7577427 G A snp 301.77 0/1 99 30 18 12 0.4 intronic rs12947788 TP53 AR,AD,AO,AU NM_001276761 exon5 c.4572-71G>A 0.178315 0.3234 Uncertain 17_7578115_T->C 17 7578115 7578115 T C snp 1569.77 1/1 99 57 0 57 1.0 intronic rs1625895 TP53 AR,AD,AO,AU NM_001276761 exon6 c.5250-61T>C 0.833666 0.9762 0.8613 0.9667 Uncertain 17_7578645_C->T 17 7578645 7578645 C T snp 995.77 1/1 72 30 0 30 1.0 intronic rs2909430 TP53 AR,AD,AO,AU NM_001276761 exon7 c.5628+91C>T 0.842851 0.9762 Uncertain 17_7579644_CCCCAGCCCTCCAGGT->- 17 7579644 7579659 CCCCAGCCCTCCAGGT - indel 22710.7 1/1 99 157 0 157 1.0 intronic rs146534833 TP53 AR,AD,AO,AU NM_001276761 exon8 c.6664+54_6773-40delCCCCAGCCCTCCAGGT 0.586462 0.6815 0.748677 CLINSIG=non-pathogenic;CLNDBN=Hereditary_cancer-predisposing_syndrome;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000161045.1;CLNDSDB=MedGen:SNOMED_CT;CLNDSDBID=C0027672:699346009 Uncertain 17_7580500_C->T 17 7580500 7580500 C T snp 1014.77 1/1 75 29 0 29 1.0 intronic rs12944939 TP53 AR,AD,AO,AU NM_001276760 exon10 c.7014+560C>T 0.169728 0.3115 Uncertain 17_7592168_C->G 17 7592168 7592168 C G snp 2555.77 0/1 99 235 122 113 0.48 exonic rs2287499 WRAP53 AR nonsynonymous SNV NM_018081 exon1 c.C202G p.R68G 0.406749 0.2996 0.327772 0.2115 0.2946 0.65 T 0.0 P -1.002 T 0.0 T 0.0 T ID=CM077855;DIS=Breast cancer, ER negative, association with;TAG=DP;PUB=17683073 DP Pathogenic 17_7592482_C->T 17 7592482 7592482 C T snp 3022.77 0/1 99 249 129 120 0.48 intronic rs17885803 WRAP53 AR NM_001143992 exon3 c.575-59C>T 0.0870607 0.0853 Uncertain 17_7592560_C->T 17 7592560 7592560 C T snp 3192.79 0/1 99 249 117 132 0.53 exonic rs2287498 WRAP53 AR synonymous SNV NM_018081 exon2 c.C450T p.F150F 0.222244 0.2996 0.130555 0.1331 0.2936 Uncertain 17_7592780_G->A 17 7592780 7592780 G A snp 788.77 0/1 99 48 22 26 0.54 intronic rs2287497 WRAP53 AR NM_001143992 exon4 c.941-127G>A 0.335264 0.3016 Uncertain 17_7605547_G->C 17 7605547 7605547 G C snp 389.77 0/1 85 17 3 14 0.82 intronic WRAP53 AR NM_001143992 exon8 c.13695-114G>C Uncertain 17_7606722_C->G 17 7606722 7606722 C G snp 3639.77 1/1 99 133 1 132 0.99 exonic rs7640 WRAP53 AR nonsynonymous SNV NM_018081 exon10 c.C1565G p.A522G 0.511182 0.4077 0.395587 0.3123 0.4125 1 T 0.0 P -0.993 T 0.0 T 0.0 T Pathogenic 17_7646166_A->G 17 7646166 7646166 A G snp 263.8 1/1 21 8 0 8 1.0 intronic rs2642160 DNAH2 AU NM_020877 exon12 c.23193-79A>G 0.888179 0.999 Uncertain 17_7673928_C->G 17 7673928 7673928 C G snp 2639.77 1/1 99 85 0 85 1.0 exonic rs9909288 DNAH2 AU synonymous SNV NM_020877 exon26 c.C4152G p.P1384P 0.358027 0.374 0.277487 0.3170 0.4067 Uncertain 17_7674850_C->T 17 7674850 7674850 C T snp 372.77 1/1 30 12 0 12 1.0 intronic rs7212989 DNAH2 AU NM_020877 exon28 c.51734+64C>T 0.468051 0.375 Uncertain 17_7677927_A->G 17 7677927 7677927 A G snp 143.03 1/1 12 5 0 5 1.0 intronic rs4791759 DNAH2 AU NM_020877 exon29 c.55024-149A>G 0.813299 0.8095 Uncertain 17_7680322_C->T 17 7680322 7680322 C T snp 466.77 1/1 36 12 0 12 1.0 intronic rs9303221 DNAH2 AU NM_020877 exon32 c.57155+115C>T 0.807109 0.7956 Uncertain 17_7681412_C->G 17 7681412 7681412 C G snp 2758.77 1/1 99 102 0 102 1.0 exonic rs7359662 DNAH2 AU synonymous SNV NM_020877 exon34 c.C5265G p.V1755V 0.761382 0.7976 0.792173 0.8742 0.8037 Uncertain 17_7691628_T->C 17 7691628 7691628 T C snp 90.28 1/1 9 3 0 3 1.0 intronic rs8070826 DNAH2 AU NM_020877 exon44 c.68510+66T>C 0.499002 0.5635 Uncertain 17_7697412_A->G 17 7697412 7697412 A G snp 54.74 1/1 6 2 0 2 1.0 intronic rs9903135 DNAH2 AU NM_020877 exon49 c.74519-159A>G 0.988219 1 Uncertain 17_7700712_C->T 17 7700712 7700712 C T snp 6718.77 1/1 99 249 0 249 1.0 splicing rs1565817 DNAH2 AU NM_020877 exon52 c.77665-5C>T 0.533946 0.6181 0.520529 0.6027 0.6304 Pathogenic 17_7702357_C->T 17 7702357 7702357 C T snp 1746.77 1/1 99 55 0 55 1.0 intronic rs12949280 DNAH2 AU NM_020877 exon56 c.79368-63C>T 0.729433 0.621 Uncertain 17_7705089_C->G 17 7705089 7705089 C G snp 1578.77 1/1 99 46 0 46 1.0 intronic rs4791834 DNAH2 AU NM_020877 exon57 c.81976+61C>G 0.464657 0.5744 Uncertain 17_7708096_G->A 17 7708096 7708096 G A snp 174.9 1/1 15 5 0 5 1.0 intronic rs9889268 DNAH2 AU NM_020877 exon60 c.85223-179G>A 0.522963 0.5823 Uncertain 17_7720091_G->C 17 7720091 7720091 G C snp 389.77 1/1 30 10 0 10 1.0 intronic rs11078708 DNAH2 AU NM_020877 exon64 c.97001+38G>C 0.187899 0.2113 0.152468 0.2043 0.2379 Uncertain 17_7720858_A->T 17 7720858 7720858 A T snp 2334.77 0/1 99 209 112 97 0.46 intronic rs872345 DNAH2 AU NM_020877 exon66 c.97826-20A>T 0.240615 0.251 0.195371 0.2180 0.2744 Uncertain 17_7721231_T->C 17 7721231 7721231 T C snp 2422.77 0/1 99 208 102 106 0.51 intronic rs9916791 DNAH2 AU NM_020877 exon68 c.98211-32T>C 0.355831 0.5843 0.261572 0.3174 0.5951 Uncertain 17_7721542_G->A 17 7721542 7721542 G A snp 44.77 0/1 31 3 1 2 0.67 intronic rs1105813 DNAH2 AU NM_020877 exon69 c.98577-87G>A 0.336062 0.4435 Uncertain 17_7722047_C->A 17 7722047 7722047 C A snp 1364.77 0/1 99 133 71 62 0.47 exonic rs150927708 DNAH2 AU synonymous SNV NM_020877 exon70 c.C10623A p.I3541I 0.00279553 0.0139 0.0013 0.0177 Uncertain 17_7722365_C->T 17 7722365 7722365 C T snp 814.77 0/1 99 62 28 34 0.55 exonic rs7213894 DNAH2 AU nonsynonymous SNV NM_020877 exon71 c.C10799T p.T3600I 0.611022 0.3522 0.649854 0.6059 0.3520 1 T 1.0 P -0.947 T 0.0 T 0.0 T Pathogenic 17_7726665_-->AGAG 17 7726665 7726665 - AGAG indel 522.73 0/1 99 18 8 10 0.56 intronic rs55758061 DNAH2 AU NM_020877 exon74 c.103707-94insAGAG 0.317692 0.2847 Uncertain 17_7728246_C->G 17 7728246 7728246 C G snp 40.77 0/1 33 3 1 2 0.67 intronic rs2279621 DNAH2 AU NM_020877 exon77 c.104993+201C>G 0.582268 0.3849 Uncertain 17_7733555_A->G 17 7733555 7733555 A G snp 1405.77 1/1 99 39 0 39 1.0 intronic rs7405476 DNAH2 AU NM_020877 exon78 c.110565-62A>G 0.971845 1 Uncertain 17_7735063_T->G 17 7735063 7735063 T G snp 1018.77 0/1 99 100 53 47 0.47 exonic rs57985356 DNAH2 AU nonsynonymous SNV NM_020877 exon82 c.T12696G p.F4232L 0.150759 0.2837 0.065354 0.1227 0.2455 1.0 P -0.913 T 0.003 T 0.01 T Pathogenic 17_7735934_G->A 17 7735934 7735934 G A snp 2900.77 0/1 99 191 72 119 0.62 exonic rs61745181 DNAH2 AU nonsynonymous SNV NM_020877 exon83 c.G12764A p.R4255Q 0.114816 0.1409 0.057819 0.1078 0.1281 0.59 T 1.0 P -0.878 T 0.955 T 0.658 D Pathogenic 17_7736480_T->A 17 7736480 7736480 T A snp 867.77 0/1 99 95 61 34 0.36 exonic rs78354379 DNAH2 AU nonsynonymous SNV NM_020877 exon85 c.T13070A p.V4357D 0.0467252 0.1746 0.008073 0.0282 0.2145 0.03 T 1.0 P -1.078 T 0.986 D 0.873 D Pathogenic 17_7737142_C->T 17 7737142 7737142 C T snp 678.77 0/1 99 38 17 21 0.55 downstream rs2291664 DNAH2 AU 0.0417332 0.1657 Uncertain 17_7749710_A->C 17 7749710 7749710 A C snp 70.77 0/1 99 76 58 18 0.24 intronic rs556227638 KDM6B AU NM_001080424 exon7 c.845-7A>C 0.0091853 0.003 0.0007 0.0013 Uncertain 17_7750178_ACCACC->- 17 7750178 7750183 ACCACC - indel 2463.73 0/1 99 69 9 60 0.87 exonic rs761977797 KDM6B AU nonframeshift deletion NM_001080424 exon9 c.753_758del p.251_253del 0.1355 0.1948 Uncertain 17_7750232_T->C 17 7750232 7750232 T C snp 3086.77 1/1 99 89 0 89 1.0 exonic rs11078709 KDM6B AU synonymous SNV NM_001080424 exon9 c.T807C p.A269A 0.429113 0.7917 0.246961 0.3129 0.8227 Uncertain 17_7750847_T->C 17 7750847 7750847 T C snp 4905.77 1/1 99 182 0 182 1.0 intronic rs2270517 KDM6B AU NM_001080424 exon11 c.1991-16T>C 0.489417 0.8026 0.292910 0.3594 0.8272 Uncertain 17_7751050_C->T 17 7751050 7751050 C T snp 295.77 0/1 99 21 10 11 0.52 exonic rs62059713 KDM6B AU nonsynonymous SNV NM_001080424 exon11 c.C1444T p.P482S 0.167532 0.2748 0.111253 0.1868 0.3571 0.49 T 0.0 P -0.898 T 0.573 P 0.199 P Pathogenic 17_7751138_C->A 17 7751138 7751138 C A snp 439.77 0/1 47 26 5 21 0.81 exonic rs61031471 KDM6B AU nonsynonymous SNV NM_001080424 exon11 c.C1532A p.P511H 0.0519169 0.1657 0.005724 0.0727 0.3548 0.43 T 0.241 P -0.894 T 0.226 T 0.224 T Pathogenic 17_7751778_G->A 17 7751778 7751778 G A snp 1427.77 0/1 99 158 88 70 0.44 exonic rs3744249 KDM6B AU synonymous SNV NM_001080424 exon11 c.G2172A p.P724P 0.252196 0.2758 0.170767 0.1733 0.2407 Uncertain 17_7751859_CACCAC->- 17 7751859 7751864 CACCAC - indel 1182.73 0/1 99 53 9 44 0.83 exonic rs377654044 KDM6B AU nonframeshift deletion NM_001080424 exon11 c.2253_2258del p.751_753del 0.14976 0.2827 0.1160 0.2207 ID=COSM985382;OCCURENCE=1(endometrium) Uncertain 17_7754460_C->A 17 7754460 7754460 C A snp 2829.77 0/1 99 250 139 111 0.44 exonic rs3736306 KDM6B AU synonymous SNV NM_001080424 exon14 c.C3795A p.I1265I 0.0417332 0.1657 0.002768 0.0230 0.2037 Uncertain 17_7755732_G->A 17 7755732 7755732 G A snp 35.77 0/1 64 7 5 2 0.29 intronic rs3736305 KDM6B AU NM_001080424 exon19 c.6782+78G>A 0.280751 0.3373 Uncertain 17_7758522_C->T 17 7758522 7758522 C T snp 1173.77 0/1 99 125 66 59 0.47 exonic rs2270518 TMEM88 AU nonsynonymous SNV NM_203411 exon1 c.C130T p.L44F 0.0415335 0.1657 0.002691 0.0286 0.2299 0.08 T 0.648 P -1.105 T 0.665 T 0.444 P Pathogenic 17_7760397_G->A 17 7760397 7760397 G A snp 1900.77 0/1 99 179 93 86 0.48 exonic rs4724 NAA38 AU synonymous SNV NM_032356 exon1 c.C345T p.F115F 0.252995 0.2748 0.172459 0.1740 0.2376 Uncertain 17_7760704_A->G 17 7760704 7760704 A G snp 7336.77 1/1 99 250 0 250 1.0 exonic rs8522 NAA38 AU nonsynonymous SNV NM_032356 exon1 c.T38C p.L13P 0.436302 0.7956 0.263417 0.3241 0.8232 0.64 T 1.000 P -0.992 T 0.0 T 0.0 T Pathogenic 17_7761512_C->A 17 7761512 7761512 C A snp 2239.77 0/1 99 234 132 102 0.44 exonic rs12453250 CYB5D1 AU nonsynonymous SNV NM_144607 exon1 c.C60A p.F20L 0.25639 0.2728 0.176073 0.1741 0.2366 0.03 T 0.017 P -1.111 T 0.964 D 0.665 D Pathogenic 17_7788409_C->G 17 7788409 7788409 C G snp 99.28 1/1 9 3 0 3 1.0 intronic rs201772788 CHD3 AU NM_001005271 exon1 c.277+8C>G 1 . Uncertain 17_7794202_C->G 17 7794202 7794202 C G snp 2462.77 1/1 99 94 0 94 1.0 intronic rs12450454 CHD3 AU NM_005852 exon4 c.1939-55C>G 0.720248 0.9732 Uncertain 17_7797265_G->A 17 7797265 7797265 G A snp 472.77 0/1 99 37 17 20 0.54 intronic rs75122325 CHD3 AU NM_005852 exon6 c.4935+12G>A 0.0327476 0.0933 0.012225 0.0235 0.1153 Uncertain 17_7801509_C->A 17 7801509 7801509 C A snp 423.77 1/1 33 14 0 14 1.0 intronic rs9889962 CHD3 AU NM_005852 exon12 c.9102+89C>A 0.638578 0.9653 Uncertain 17_7804405_G->C 17 7804405 7804405 G C snp 723.77 0/1 99 51 24 27 0.53 intronic rs62062524 CHD3 AU NM_005852 exon19 c.11993+94G>C 0.241014 0.4395 Uncertain 17_7806346_T->C 17 7806346 7806346 T C snp 2635.77 0/1 99 244 124 120 0.49 exonic rs74903197 CHD3 AU synonymous SNV NM_001005271 exon22 c.T3639C p.F1213F 0.00758786 0.0367 0.000077 0.0036 0.0487 Uncertain 17_7806529_A->G 17 7806529 7806529 A G snp 1093.77 1/1 81 31 0 31 1.0 intronic rs7222046 CHD3 AU NM_005852 exon23 c.14271-60A>G 0.750799 0.999 Uncertain 17_7811998_T->C 17 7811998 7811998 T C snp 4901.77 1/1 99 169 0 169 1.0 intronic rs4239111 CHD3 AU NM_005852 exon35 c.19696-16T>C 0.944888 1 0.880209 0.8852 0.9994 Uncertain 17_7812871_A->- 17 7812871 7812871 A - indel 377.73 0/1 97 13 3 10 0.77 intronic rs5819185 CHD3 AU NM_005852 exon36 c.20338+215delA 0.248003 0.4425 Uncertain 17_7828275_A->G 17 7828275 7828275 A G snp 564.77 1/1 42 19 0 19 1.0 intronic rs4444395 KCNAB3 AU NM_004732 exon7 c.1995-139A>G 0.682907 0.9931 Uncertain 17_7828558_G->T 17 7828558 7828558 G T snp 718.77 1/1 54 22 0 22 1.0 intronic rs10852894 KCNAB3 AU NM_004732 exon7 c.2082+57G>T 0.682708 0.9931 0.490583 Uncertain 17_7828870_G->A 17 7828870 7828870 G A snp 969.77 1/1 75 29 0 29 1.0 intronic rs4396585 KCNAB3 AU NM_004732 exon8 c.2581-130G>A 0.65595 0.8234 Uncertain 17_7830610_G->A 17 7830610 7830610 G A snp 623.77 1/1 45 23 0 23 1.0 intronic rs9908139 KCNAB3 AU NM_004732 exon11 c.4242-51G>A 0.547923 0.8036 0.428155 Uncertain 17_7832766_A->G 17 7832766 7832766 A G snp 389.77 1/1 30 14 0 14 1.0 upstream;downstream rs9898955 KCNAB3;TRAPPC1 UN 0.677316 0.9504 0.6478 0.9432 Uncertain 17_7840679_G->A 17 7840679 7840679 G A snp 720.77 1/1 54 21 0 21 1.0 intronic rs4791987 CNTROB AU NM_001037144 exon7 c.4183+99G>A 0.621605 0.8016 Uncertain 17_7843053_C->T 17 7843053 7843053 C T snp 2715.77 1/1 99 99 0 99 1.0 exonic rs11078719 CNTROB AU synonymous SNV NM_053051 exon8 c.C1150T p.L384L 0.594848 0.8016 0.445171 0.5297 0.7554 Uncertain 17_7846684_G->A 17 7846684 7846684 G A snp 1124.77 1/1 81 37 0 37 1.0 intronic rs7207022 CNTROB AU NM_001037144 exon10 c.10311-24G>A 0.595447 0.8016 0.445256 0.5322 0.7549 Uncertain 17_7847955_C->A 17 7847955 7847955 C A snp 1248.77 1/1 93 35 0 35 1.0 exonic rs11650083 CNTROB AU nonsynonymous SNV NM_053051 exon12 c.C1733A p.P578Q 0.604633 0.8016 0.463940 0.5490 0.7558 0.67 T 0.0 P -0.955 T 0.005 T 0.007 T Pathogenic 17_7849087_C->G 17 7849087 7849087 C G snp 2896.77 1/1 99 113 0 113 1.0 exonic rs4462665 CNTROB AU synonymous SNV NM_053051 exon13 c.C1776G p.P592P 0.63099 0.8016 0.491773 0.5562 0.7561 0.32 T 0.0 P -1.049 T Likely benign 17_7852528_C->T 17 7852528 7852528 C T snp 1847.77 1/1 99 63 0 63 1.0 intronic rs7211792 CNTROB AU NM_001037144 exon18 c.16078+53C>T 0.630391 0.8016 0.484450 Uncertain 17_7852887_T->G 17 7852887 7852887 T G snp 1764.77 1/1 99 57 1 56 0.98 UTR3 rs7217194 CNTROB AU 0.76238 0.9563 Uncertain 17_7906519_G->T 17 7906519 7906519 G T snp 713.77 1/1 54 30 0 30 1.0 exonic rs61749665 GUCY2D AR,AD nonsynonymous SNV NM_000180 exon2 c.G154T p.A52S 0.415935 0.6935 0.205580 0.5211 0.7661 0.72 T 0.0 P -0.901 T 0.168 T 0.035 T CLINSIG=unknown|non-pathogenic|probable-non-pathogenic;CLNDBN=Leber_congenital_amaurosis_1|not_specified|not_provided;CLNREVSTAT=no_assertion_criteria_provided|criteria_provided\x2c_single_submitter|no_assertion_criteria_provided;CLNACC=RCV000009947.1|RCV000078318.3|RCV000084835.2;CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet|MedGen|MedGen;CLNDSDBID=NBK1298:C2931258:204000:ORPHA65|CN169374|CN221809 Pathogenic 17_7918490_T->C 17 7918490 7918490 T C snp 1219.77 1/1 87 39 0 39 1.0 intronic rs3813585 GUCY2D AR,AD NM_000180 exon14 c.12004+121T>C 0.542332 0.8085 Uncertain 17_7948175_C->T 17 7948175 7948175 C T snp 1625.77 0/1 99 116 49 67 0.58 exonic rs6503070 ALOX15B AU synonymous SNV NM_001039130 exon6 c.C705T p.D235D 0.597244 0.4087 0.554283 0.4986 0.4081 Uncertain 17_7950377_C->T 17 7950377 7950377 C T snp 931.77 0/1 99 67 30 37 0.55 exonic rs11541083 ALOX15B AU synonymous SNV NM_001039130 exon9 c.C1353T p.I451I 0.248403 0.2192 0.264109 0.3176 0.2068 Uncertain 17_7950952_C->A 17 7950952 7950952 C A snp 734.77 0/1 99 69 40 29 0.42 exonic rs9898751 ALOX15B AU synonymous SNV NM_001039131 exon10 c.C1428A p.S476S 0.447484 0.3423 0.446486 0.4369 0.3504 Uncertain 17_7951819_A->G 17 7951819 7951819 A G snp 1383.77 0/1 99 119 54 65 0.55 exonic rs4792147 ALOX15B AU nonsynonymous SNV NM_001039131 exon12 c.A1745G p.Q582R 0.650359 0.5506 0.604798 0.5591 0.5689 0.34 T 0.0 P -0.954 T 0.001 T 0.005 T Pathogenic 17_7960380_T->C 17 7960380 7960380 T C snp 269.77 0/1 99 13 4 9 0.69 intergenic rs8072641 ALOX15B AU 0.305511 0.2202 Uncertain 17_7960625_C->T 17 7960625 7960625 C T snp 1332.77 0/1 99 104 46 58 0.56 intergenic rs9896256 ALOX15B AU 0.460264 0.3304 0.4961 0.2879 Uncertain 17_7961115_G->C 17 7961115 7961115 G C snp 310.77 0/1 99 23 10 13 0.57 intergenic rs7214969 ALOX15B AU 0.197085 0.2192 Uncertain 17_7977105_A->G 17 7977105 7977105 A G snp 1490.77 0/1 99 107 52 55 0.51 intronic rs12937410 ALOX12B AR NM_001139 exon3 c.987+30A>G 0.850839 0.8135 0.856528 0.8265 0.8206 Uncertain 17_7979463_A->G 17 7979463 7979463 A G snp 2638.77 0/1 99 203 90 113 0.56 intronic rs2289586 ALOX12B AR NM_001139 exon5 c.3404-29A>G 0.867212 0.8224 0.860757 0.8421 0.8314 Uncertain 17_7983799_A->G 17 7983799 7983799 A G snp 1157.77 0/1 99 115 64 51 0.44 intronic rs2304907 ALOX12B AR NM_001139 exon10 c.7568+143A>G 0.459864 0.4365 0.4174 0.4704 Uncertain 17_7983969_G->C 17 7983969 7983969 G C snp 446.77 0/1 99 29 11 18 0.62 intronic rs2304908 ALOX12B AR NM_001139 exon11 c.7887-6G>C 0.454473 0.3909 0.409350 0.3760 0.3873 Uncertain 17_7990548_ACACACAGACACACACACACACACACACAG->- 17 7990548 7990577 ACACACAGACACACACACACACACACACAG - indel 6699.73 0/1 99 72 26 46 0.64 intronic ALOX12B AR NM_001139 exon15 c.14525-65_14525-36delACACACAGACACACACACACACACACACAG Uncertain 17_7991330_T->G 17 7991330 7991330 T G snp 354.78 1/1 27 10 0 10 1.0 upstream rs9909784 ALOX12B AR 1 1 1 1 Uncertain 17_7991628_C->A 17 7991628 7991628 C A snp 88.28 1/1 9 3 0 3 1.0 upstream;downstream rs9903712 ALOX12B;MIR4314 UN 0.979832 0.9921 Uncertain 17_7999957_G->A 17 7999957 7999957 G A snp 1666.77 1/1 99 60 0 60 1.0 exonic rs3809881 ALOXE3 AR synonymous SNV NM_021628 exon16 c.C2124T p.S708S 0.42472 0.6022 0.368445 0.4464 0.6315 Uncertain 17_8007416_G->T 17 8007416 8007416 G T snp 1977.77 1/1 99 75 0 75 1.0 intronic rs3027288 ALOXE3 AR NM_001165960 exon3 c.7488-16G>T 0.142772 0.4345 0.034215 0.1066 0.4324 Uncertain 17_8007650_T->C 17 8007650 8007650 T C snp 747.77 1/1 57 22 0 22 1.0 intronic rs2289587 ALOXE3 AR NM_001165960 exon3 c.7589+117T>C 0.486022 0.6736 Uncertain 17_8007683_C->T 17 8007683 8007683 C T snp 383.77 1/1 30 10 0 10 1.0 intronic rs2289588 ALOXE3 AR NM_001165960 exon3 c.7589+150C>T 0.476637 0.6528 Uncertain 17_8013197_G->C 17 8013197 8013197 G C snp 1124.77 0/1 99 80 33 47 0.59 intronic rs76606011 ALOXE3 AR NM_001165960 exon6 c.13289-36G>C 0.268371 0.4623 0.124147 0.2302 0.4735 Uncertain 17_8015552_G->A 17 8015552 8015552 G A snp 792.77 0/1 99 63 29 34 0.54 intronic rs112949520 ALOXE3 AR NM_001165960 exon10 c.15570+38G>A 0.0391374 0.1101 0.001768 0.0271 0.0879 Uncertain 17_8015579_G->C 17 8015579 8015579 G C snp 541.77 0/1 99 40 20 20 0.5 intronic rs894505 ALOXE3 AR NM_001165960 exon10 c.15570+65G>C 0.504992 0.373 Uncertain 17_8019125_C->T 17 8019125 8019125 C T snp 379.77 1/1 30 12 0 12 1.0 intronic rs3027218 ALOXE3 AR NM_001165960 exon13 c.19062+119C>T 0.361022 0.4683 Uncertain 17_8021946_C->T 17 8021946 8021946 C T snp 2846.77 0/1 99 250 136 114 0.46 upstream rs3027231 ALOXE3 AR 0.0449281 0.131 Uncertain 17_8022065_G->A 17 8022065 8022065 G A snp 6479.77 1/1 99 221 0 221 1.0 upstream rs3027232 ALOXE3 AR 0.374002 0.4722 0.3332 0.4464 0 D 0.0 P -0.957 T 0.001 T 0.001 T Uncertain 17_8026364_C->T 17 8026364 8026364 C T snp 4129.77 1/1 99 159 1 158 0.99 exonic rs61731639 HES7 AR synonymous SNV NM_032580 exon2 c.G123A p.E41E 0.140176 0.375 0.031781 0.1831 0.4844 Uncertain 17_8027318_A->G 17 8027318 8027318 A G snp 1891.77 1/1 99 70 0 70 1.0 intronic rs1372869 HES7 AR NM_032580 exon4 c.2472-42A>G 0.59405 0.5794 0.470632 0.4782 0.5887 Uncertain 17_8027644_G->A 17 8027644 8027644 G A snp 178.9 1/1 15 5 0 5 1.0 upstream rs1372868 HES7 AR 0.988618 1 Uncertain 17_8045007_CCCTTGAACTTGAGCTCAATTCTTTTTTCTCC->- 17 8045007 8045038 CCCTTGAACTTGAGCTCAATTCTTTTTTCTCC - indel 5374.73 1/1 51 32 0 32 1.0 intronic PER1 AU NM_002616 exon2 c.737-115_737-84delCCCTTGAACTTGAGCTCAATTCTTTTTTCTCC Uncertain 17_8046772_C->G 17 8046772 8046772 C G snp 1640.77 1/1 99 65 0 65 1.0 exonic rs2585405 PER1 AU nonsynonymous SNV NM_002616 exon19 c.G2884C p.A962P 0.771765 0.5337 0.859197 0.8544 0.5219 0.52 T 0.000 P -1.042 T 0.0 T 0.0 T ID=CM087381;DIS=Increased sex hormone-binding globulin levels;TAG=FP;PUB=18990770 FP Pathogenic 17_8050979_A->G 17 8050979 8050979 A G snp 6657.77 1/1 99 244 0 244 1.0 intronic rs2304911 PER1 AU NM_002616 exon13 c.6606-12A>G 0.165136 0.253 0.075504 0.1109 0.2196 Uncertain 17_8052532_-->AAAAC 17 8052532 8052532 - AAAAC indel 2429.73 1/1 99 39 0 39 1.0 intronic rs144904249 PER1 AU NM_002616 exon17 c.8191-44insAAAAC 0.0686901 0.13 0.4153 0.4298 Uncertain 17_8053085_T->G 17 8053085 8053085 T G snp 3440.77 1/1 99 114 0 114 1.0 exonic rs3027178 PER1 AU synonymous SNV NM_002616 exon5 c.A639C p.T213T 0.286741 0.2738 0.289789 0.2937 0.2719 Uncertain 17_8064083_T->G 17 8064083 8064083 T G snp 338.78 1/1 27 11 0 11 1.0 UTR3 rs1061032 VAMP2 AU 0.740216 0.5258 Uncertain 17_8066107_G->A 17 8066107 8066107 G A snp 144.03 1/1 12 6 0 6 1.0 intronic rs2304909 VAMP2 AU NM_014232 exon5 c.2023-88G>A 0.573482 0.494 Uncertain 17_8076778_C->T 17 8076778 8076778 C T snp 554.77 1/1 42 15 0 15 1.0 UTR3 rs9894790 TMEM107 AU 0.630192 0.495 0.648064 0.6692 0.4684 Uncertain 17_8076802_T->A 17 8076802 8076802 T A snp 987.77 1/1 72 29 0 29 1.0 UTR3 rs9901637 TMEM107 AU 0.56869 0.4931 0.586327 0.6407 0.4682 Uncertain 17_8076911_A->G 17 8076911 8076911 A G snp 2326.77 1/1 99 92 0 92 1.0 UTR3 rs11655582 TMEM107 AU 0.66853 0.5238 0.8109 0.5043 Uncertain 17_8076916_C->T 17 8076916 8076916 C T snp 2263.77 1/1 99 93 0 93 1.0 UTR3 rs11650713 TMEM107 AU 0.586661 0.494 0.6425 0.4600 Uncertain 17_8078765_T->C 17 8078765 8078765 T C snp 301.78 1/1 24 8 0 8 1.0 intronic rs8069739 TMEM107 AU NM_032354 exon3 c.1554-309T>C 0.632388 0.495 Uncertain 17_8079029_G->C 17 8079029 8079029 G C snp 5350.77 1/1 99 194 0 194 1.0 intronic rs8064449 TMEM107 AU NM_032354 exon3 c.1554-45G>C 0.588059 0.496 0.589574 0.6426 0.4702 0 D 0.000 P -0.956 T Uncertain 17_8092694_T->G 17 8092694 8092694 T G snp 2055.77 0/1 99 159 77 82 0.52 exonic rs8531 C17orf59 AU synonymous SNV NM_017622 exon1 c.A765C p.P255P 0.600639 0.2887 0.768650 0.7515 0.3607 Uncertain 17_8108331_A->G 17 8108331 8108331 A G snp 5699.77 1/1 99 217 0 217 1.0 exonic rs1059476 AURKB AU nonsynonymous SNV NM_004217 exon9 c.T893C p.M298T 0.736022 0.5516 0.821851 0.8306 0.5485 0.39 T 0.000 P -0.992 T 0.0 T 0.0 T Pathogenic 17_8108339_G->A 17 8108339 8108339 G A snp 5952.77 1/1 99 227 0 227 1.0 exonic rs2241909 AURKB AU synonymous SNV NM_004217 exon9 c.C885T p.S295S 0.620807 0.5179 0.618330 0.6547 0.5039 Uncertain 17_8110764_C->A 17 8110764 8110764 C A snp 777.77 0/1 99 72 40 32 0.44 intronic rs2289590 AURKB AU NM_001284526 exon5 c.2500+76C>A 0.453275 0.1964 Uncertain 17_8132247_A->C 17 8132247 8132247 A C snp 307.77 0/1 99 23 10 13 0.57 intronic rs73244850 CTC1 AR NM_025099 exon3 c.713+37A>C 0.0537141 0.0099 0.043811 0.0325 0.0084 Uncertain 17_8132763_T->C 17 8132763 8132763 T C snp 1193.77 1/1 87 39 0 39 1.0 exonic rs3826543 CTC1 AR nonsynonymous SNV NM_025099 exon19 c.A3013G p.I1005V 0.663538 0.3611 0.800866 0.7509 0.3844 1 T 0.0 P -0.919 T 0.0 T 0.0 T CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000116841.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 17_8133460_C->G 17 8133460 8133460 C G snp 110.77 0/1 99 8 4 4 0.5 intronic CTC1 AR NM_025099 exon7 c.2114-151C>G Uncertain 17_8134514_A->G 17 8134514 8134514 A G snp 827.77 0/1 99 49 20 29 0.59 intronic rs3027240 CTC1 AR NM_025099 exon9 c.3096-79A>G 0.043131 0.0099 Uncertain 17_8135061_T->C 17 8135061 8135061 T C snp 2256.77 0/1 99 215 112 103 0.48 exonic rs3027238 CTC1 AR nonsynonymous SNV NM_025099 exon14 c.A2458G p.I820V 0.9373 0.9881 0.953007 0.9507 0.9920 1 T 0.0 P -0.953 T 0.0 T 0.001 T CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000116840.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 17_8135146_A->C 17 8135146 8135146 A C snp 2661.77 0/1 99 236 115 121 0.51 intronic rs3027237 CTC1 AR NM_025099 exon10 c.3636+13A>C 0.043131 0.0099 0.032069 0.0281 0.0077 Uncertain 17_8135184_G->A 17 8135184 8135184 G A snp 2574.77 0/1 99 210 100 110 0.52 intronic rs3027236 CTC1 AR NM_025099 exon11 c.3723-36G>A 0.0429313 0.0099 0.032102 0.0280 0.0076 Uncertain 17_8135446_G->A 17 8135446 8135446 G A snp 1336.77 0/1 99 111 52 59 0.53 exonic rs3027235 CTC1 AR synonymous SNV NM_025099 exon13 c.C2160T p.T720T 0.0433307 0.0099 0.031403 0.0310 0.0091 Uncertain 17_8137737_G->A 17 8137737 8137737 G A snp 1933.77 1/1 99 68 0 68 1.0 intronic rs4792621 CTC1 AR NM_025099 exon14 c.6275-35G>A 0.785543 0.6498 0.855288 0.8245 0.6372 Uncertain 17_8138643_A->C 17 8138643 8138643 A C snp 953.77 0/1 99 67 26 41 0.61 intronic rs12603646 CTC1 AR NM_025099 exon16 c.7106+40A>C 0.285743 0.3313 0.259631 0.3117 0.3258 Uncertain 17_8139327_A->G 17 8139327 8139327 A G snp 6322.77 1/1 99 230 0 230 1.0 intronic rs4791626 CTC1 AR NM_025099 exon18 c.7878-48A>G 0.992212 1 0.989692 0.9891 0.9999 Uncertain 17_8139339_T->C 17 8139339 8139339 T C snp 2975.77 0/1 99 236 111 125 0.53 intronic rs66582670 CTC1 AR NM_025099 exon18 c.7878-36T>C 0.307907 0.3343 0.293440 0.3128 0.3252 Uncertain 17_8139760_T->C 17 8139760 8139760 T C snp 70.77 0/1 65 5 2 3 0.6 intronic rs58532865 CTC1 AR NM_025099 exon18 c.8163+100T>C 0.285743 0.3313 Uncertain 17_8140937_C->A 17 8140937 8140937 C A snp 360.77 0/1 99 23 12 11 0.48 intronic rs117819634 CTC1 AR NM_025099 exon19 c.9340+100C>A 0.149361 0.2946 Uncertain 17_8141324_T->C 17 8141324 8141324 T C snp 104.77 0/1 99 13 8 5 0.38 intronic rs11655903 CTC1 AR NM_025099 exon20 c.9851-24T>C 0.285942 0.3313 0.266383 0.3080 0.3240 Uncertain 17_8141707_T->C 17 8141707 8141707 T C snp 4853.77 1/1 99 179 0 179 1.0 splicing rs6503093 CTC1 AR NM_025099 exon21 c.10212-2T>C 1 1 1.0000 1 Pathogenic 17_8157310_C->T 17 8157310 8157310 C T snp 2940.77 0/1 99 249 135 114 0.46 exonic rs9891699 PFAS AU nonsynonymous SNV NM_012393 exon2 c.C55T p.P19S 0.634784 0.5595 0.702599 0.7432 0.5534 0.59 T 0.000 P -1.038 T 0.0 T 0.0 T Pathogenic 17_8158273_A->G 17 8158273 8158273 A G snp 1298.77 0/1 99 96 43 53 0.55 intronic rs6503094 PFAS AU NM_012393 exon4 c.1089-71A>G 0.642173 0.5605 Uncertain 17_8159232_A->G 17 8159232 8159232 A G snp 2205.77 1/1 99 73 1 72 0.99 splicing rs7221716 PFAS AU NM_012393 exon6 c.1973+4A>G 0.784345 0.6468 0.830770 0.8363 0.6530 Pathogenic 17_8166378_T->C 17 8166378 8166378 T C snp 1663.77 0/1 99 142 74 68 0.48 intronic rs7206953 PFAS AU NM_012393 exon13 c.9171-48T>C 0.583466 0.5645 0.634246 0.6945 0.5532 Uncertain 17_8167600_T->C 17 8167600 8167600 T C snp 1828.77 0/1 99 134 64 70 0.52 exonic rs11078738 PFAS AU nonsynonymous SNV NM_012393 exon16 c.T1862C p.L621P 0.525759 0.2708 0.690297 0.6513 0.2870 1 T 0.0 P -0.946 T 0.0 T 0.0 T Pathogenic 17_8168224_T->C 17 8168224 8168224 T C snp 660.77 0/1 99 48 23 25 0.52 exonic rs9902252 PFAS AU synonymous SNV NM_012393 exon18 c.T2061C p.S687S 0.529353 0.2708 0.697910 0.7059 0.4058 Uncertain 17_8168805_A->G 17 8168805 8168805 A G snp 2304.77 0/1 99 174 78 96 0.55 intronic rs9897842 PFAS AU NM_012393 exon19 c.11531+19A>G 0.547923 0.2768 0.709442 0.6706 0.2902 Uncertain 17_8169006_T->C 17 8169006 8169006 T C snp 3713.77 1/1 99 128 2 126 0.98 intronic rs11655563 PFAS AU NM_012393 exon20 c.11702+49T>C 0.634585 0.3591 0.768415 0.7437 0.3838 Uncertain 17_8170580_C->T 17 8170580 8170580 C T snp 2158.77 0/1 99 175 87 88 0.5 intronic rs62063140 PFAS AU NM_012393 exon24 c.13298+27C>T 0.0880591 0.0794 0.058778 0.0760 0.0969 Uncertain 17_8172732_A->G 17 8172732 8172732 A G snp 77.77 0/1 99 7 4 3 0.43 UTR3 rs12951103 PFAS AU 0.544329 0.2758 Uncertain 17_8194319_T->C 17 8194319 8194319 T C snp 2514.77 1/1 99 95 0 95 1.0 intronic rs6503098 SLC25A35 AU NM_201520 exon3 c.1361+25T>C 0.598442 0.3502 0.733046 0.7196 0.3766 Uncertain 17_8215534_C->T 17 8215534 8215534 C T snp 3121.77 0/1 99 247 104 143 0.58 exonic rs3744651 ARHGEF15 AU synonymous SNV NM_173728 exon2 c.C177T p.T59T 0.416933 0.6468 0.347686 0.3756 0.6675 0.02 T 1.000 P -0.951 T Likely benign 17_8216468_T->C 17 8216468 8216468 T C snp 7699.77 1/1 99 250 0 250 1.0 exonic rs871841 ARHGEF15 AU nonsynonymous SNV NM_173728 exon3 c.T830C p.L277P 0.621006 0.7431 0.563432 0.5541 0.7603 1 T 0.471 P -0.965 T 0.0 T 0.0 T Pathogenic 17_8216737_A->G 17 8216737 8216737 A G snp 408.77 0/1 99 25 8 17 0.68 intronic rs2302867 ARHGEF15 AU NM_025014 exon4 c.1461-81A>G 0.417532 0.6488 Uncertain 17_8219478_A->G 17 8219478 8219478 A G snp 794.77 1/1 57 28 0 28 1.0 intronic rs2270445 ARHGEF15 AU NM_025014 exon9 c.4109+12A>G 0.629792 0.744 0.574886 0.5551 0.7576 Uncertain 17_8222777_G->T 17 8222777 8222777 G T snp 880.77 0/1 99 74 36 38 0.51 intronic rs76317718 ARHGEF15 AU NM_025014 exon15 c.7459-39G>T 0.0810703 0.3026 0.010380 0.0454 0.3218 Uncertain 17_8224276_T->C 17 8224276 8224276 T C snp 2161.77 0/1 99 215 115 100 0.47 exonic rs3744647 ARHGEF15 AU nonsynonymous SNV NM_173728 exon16 c.T2491C p.S831P 0.577875 0.4256 0.643011 0.6114 0.4181 0.36 T 0.0 P -0.939 T 0.0 T 0.0 T Pathogenic 17_8243598_C->T 17 8243598 8243598 C T snp 2021.77 0/1 99 158 76 82 0.52 exonic rs73250854 ODF4 AU nonsynonymous SNV NM_153007 exon1 c.C229T p.R77C 0.0982428 0.0139 0.122097 0.1018 0.0142 0 D 0.000 P -1.082 T 0.997 D 0.833 D Pathogenic 17_8243661_G->A 17 8243661 8243661 G A snp 2207.77 0/1 99 182 91 91 0.5 exonic rs12601097 ODF4 AU nonsynonymous SNV NM_153007 exon1 c.G292A p.V98M 0.538938 0.3214 0.635322 0.5915 0.3246 1 T 1.000 P -0.943 T 0.0 T 0.0 T Pathogenic 17_8243785_A->G 17 8243785 8243785 A G snp 1164.77 0/1 99 93 46 47 0.51 exonic rs12936935 ODF4 AU nonsynonymous SNV NM_153007 exon1 c.A416G p.Y139C 0.538938 0.3214 0.635553 0.5895 0.3216 1 T 0.000 P -0.935 T 0.0 T 0.0 T Pathogenic 17_8249116_C->T 17 8249116 8249116 C T snp 792.77 0/1 99 90 52 38 0.42 exonic rs2302869 ODF4 AU synonymous SNV NM_153007 exon3 c.C720T p.T240T 0.155751 0.3006 0.069814 0.0860 0.3472 Uncertain 17_8275023_T->G 17 8275023 8275023 T G snp 77.77 0/1 30 4 1 3 0.75 intronic rs1004151 KRBA2 AU NM_213597 exon2 c.2407+165T>G 0.610423 0.3482 Uncertain 17_8296440_G->A 17 8296440 8296440 G A snp 1085.77 0/1 99 68 28 40 0.59 exonic rs12601265 RNF222 AU nonsynonymous SNV NM_001146684 exon3 c.C340T p.P114S 0.652556 0.3502 0.7207 0.4025 0.81 T 0.0 P -0.955 T 0.0 T 0.001 T Pathogenic 17_8339103_C->T 17 8339103 8339103 C T snp 357.77 1/1 30 12 0 12 1.0 upstream rs8065181 NDEL1 AU 0.91893 1 Uncertain 17_8339283_C->T 17 8339283 8339283 C T snp 2458.77 1/1 99 97 0 97 1.0 UTR5 rs3744652 NDEL1 AU 0.426717 0.4405 0.4315 0.4767 Uncertain 17_8339307_G->A 17 8339307 8339307 G A snp 2236.77 1/1 99 85 0 85 1.0 UTR5 rs8064417 NDEL1 AU 0.98762 1 0.9980 1 0.63 T 1.000 P -0.989 T Uncertain 17_8339494_C->T 17 8339494 8339494 C T snp 82.28 1/1 9 3 0 3 1.0 intronic rs8065812 NDEL1 AU 0.425319 0.4405 Uncertain 17_8349984_-->C 17 8349984 8349984 - C indel 189.77 1/1 21 7 0 7 1.0 intronic rs386364879 NDEL1 AU NM_030808 exon4 c.2482-87insC Uncertain 17_8378932_A->G 17 8378932 8378932 A G snp 94.28 1/1 9 3 0 3 1.0 UTR3 rs961 MYH10 AU 0.414537 0.4395 Uncertain 17_8383253_G->C 17 8383253 8383253 G C snp 99.28 1/1 9 3 0 3 1.0 intronic rs4791316 MYH10 AU NM_001256012 exon4 c.4306-174G>C 0.946286 0.999 Uncertain 17_8383344_-->C 17 8383344 8383344 - C indel 1355.73 1/1 99 44 0 44 1.0 intronic rs3215073 MYH10 AU NM_001256012 exon4 c.4306-83insC 0.41893 0.4325 Uncertain 17_8383894_A->G 17 8383894 8383894 A G snp 1281.77 1/1 93 49 1 48 0.98 intronic rs6503120 MYH10 AU NM_001256012 exon5 c.4722+51A>G 0.946486 1 0.939788 0.9831 1 Uncertain 17_8384875_T->G 17 8384875 8384875 T G snp 1139.77 1/1 84 29 0 29 1.0 intronic rs904417 MYH10 AU NM_001256012 exon6 c.5607+147T>G 0.946486 1 Uncertain 17_8387438_-->ATGA 17 8387438 8387438 - ATGA indel 7023.73 1/1 99 100 0 100 1.0 intronic rs113838551 MYH10 AU NM_001256012 exon7 c.8334-17insATGA 0.971246 1 0.961821 0.9900 0.9999 Uncertain 17_8390655_C->T 17 8390655 8390655 C T snp 478.77 1/1 36 14 0 14 1.0 intronic rs7219356 MYH10 AU NM_001256012 exon8 c.11629-95C>T 0.409145 0.4315 Uncertain 17_8393900_G->C 17 8393900 8393900 G C snp 2363.77 1/1 99 82 0 82 1.0 intronic rs2270744 MYH10 AU NM_001256012 exon9 c.14749+30G>C 0.379393 0.4177 0.335922 0.3610 0.4074 Uncertain 17_8393979_C->T 17 8393979 8393979 C T snp 422.77 1/1 33 14 1 13 0.93 intronic rs2270743 MYH10 AU NM_001256012 exon9 c.14749+109C>T 0.450879 0.4355 Uncertain 17_8395894_T->C 17 8395894 8395894 T C snp 3673.77 1/1 99 134 0 134 1.0 intronic rs904416 MYH10 AU NM_001256012 exon10 c.16706+67T>C 0.973642 1 Uncertain 17_8396010_A->G 17 8396010 8396010 A G snp 483.77 1/1 36 16 0 16 1.0 intronic rs3744653 MYH10 AU NM_001256012 exon11 c.16972-83A>G 0.432708 0.4385 Uncertain 17_8397315_C->T 17 8397315 8397315 C T snp 991.77 1/1 75 33 0 33 1.0 intronic rs2277670 MYH10 AU NM_001256012 exon12 c.18082+112C>T 0.415335 0.4375 Uncertain 17_8412133_A->G 17 8412133 8412133 A G snp 1474.77 1/1 99 49 0 49 1.0 intronic rs9889907 MYH10 AU NM_001256012 exon18 c.32874+138A>G 0.96845 1 Uncertain 17_8416901_C->T 17 8416901 8416901 C T snp 2016.77 1/1 99 69 0 69 1.0 exonic rs11374 MYH10 AU synonymous SNV NM_001256012 exon23 c.G2700A p.T900T 0.423323 0.502 0.383208 0.4031 0.4949 Uncertain 17_8417007_T->- 17 8417007 8417007 T - indel 2283.73 1/1 99 108 3 105 0.97 intronic rs66631876 MYH10 AU NM_001256012 exon21 c.37866+20delT 0.3986 0.4586 Uncertain 17_8424270_G->A 17 8424270 8424270 G A snp 3619.77 1/1 99 122 0 122 1.0 exonic rs8067456 MYH10 AU synonymous SNV NM_001256012 exon19 c.C2199T p.N733N 0.979433 1 0.970014 0.9923 1 Uncertain 17_8449767_A->G 17 8449767 8449767 A G snp 2989.77 1/1 99 103 1 102 0.99 intronic rs4791724 MYH10 AU NM_001256012 exon32 c.70740-94A>G 0.969249 1 Uncertain 17_8451745_A->- 17 8451745 8451745 A - indel 471.73 1/1 51 20 0 20 1.0 intronic rs398030289 MYH10 AU NM_001256012 exon33 c.72605+19delA 0.97484 1 0.9907 0.9994 Uncertain 17_8455532_G->A 17 8455532 8455532 G A snp 435.77 1/1 33 16 0 16 1.0 intronic rs883811 MYH10 AU NM_001256012 exon35 c.76341+70G>A 0.426118 0.505 Uncertain 17_8473182_G->A 17 8473182 8473182 G A snp 2034.77 1/1 99 75 0 75 1.0 intronic rs422173 MYH10 AU NM_001256012 exon37 c.94009+52G>A 0.442891 0.502 0.424505 0.4218 0.4908 Uncertain 17_8478587_AAT->- 17 8478587 8478589 AAT - indel 2748.73 1/1 99 46 0 46 1.0 intronic rs10573578 MYH10 AU NM_001256012 exon38 c.100839-1373_100839-1371delAAT 0.411542 0.4901 Uncertain 17_8478605_C->T 17 8478605 8478605 C T snp 1173.77 1/1 84 40 0 40 1.0 intronic rs268460 MYH10 AU NM_001256012 exon38 c.100839-1355C>T 0.965056 1 Uncertain 17_8633563_C->A 17 8633563 8633563 C A snp 464.77 0/1 99 48 24 24 0.5 intronic rs202245633 CCDC42 AU NM_001158261 exon1 c.78+38C>A 1.815e-05 0.0002 Uncertain 17_8647181_T->C 17 8647181 8647181 T C snp 46.77 0/1 33 3 1 2 0.67 intronic rs9902109 CCDC42 AU NM_001158261 exon4 c.13601+133T>C 0.790136 0.6468 Uncertain 17_8647337_A->G 17 8647337 8647337 A G snp 612.77 0/1 99 52 21 31 0.6 intronic rs7218546 CCDC42 AU NM_001158261 exon5 c.13949-59A>G 0.793331 0.6637 Uncertain 17_8656609_A->C 17 8656609 8656609 A C snp 52.77 0/1 81 47 36 11 0.23 intronic rs764660808 SPDYE4 AU NM_001128076 exon2 c.183-29A>C 0.0130 0.0077 Uncertain 17_8701116_G->A 17 8701116 8701116 G A snp 3382.77 0/1 99 250 115 135 0.54 exonic rs2242374 MFSD6L AU synonymous SNV NM_152599 exon1 c.C1323T p.L441L 0.19389 0.2748 0.138321 0.1370 0.3065 Uncertain 17_8701799_G->T 17 8701799 8701799 G T snp 2655.77 0/1 99 200 95 105 0.53 exonic rs17854013 MFSD6L AU nonsynonymous SNV NM_152599 exon1 c.C640A p.P214T 0.26857 0.4256 0.199754 0.2190 0.4539 0.66 T 0.000 P -0.963 T 0.922 T 0.598 D Pathogenic 17_8725214_-->G 17 8725214 8725214 - G indel 7393.73 1/1 99 189 1 188 0.99 exonic rs397775164 PIK3R6 AU unknown 0.999601 1 1.0000 1 Uncertain 17_8726160_A->G 17 8726160 8726160 A G snp 184.77 0/1 99 18 10 8 0.44 intronic rs2074258 PIK3R6 AU NM_001290211 exon6 c.19722-152A>G 0.727236 0.6567 Uncertain 17_8726845_A->C 17 8726845 8726845 A C snp 556.77 0/1 99 69 44 25 0.36 intronic rs2074257 PIK3R6 AU NM_001290211 exon7 c.20224+31A>C 0.194688 0.3413 0.059292 0.1200 0.3523 Uncertain 17_8731710_G->- 17 8731710 8731710 G - indel 229.73 0/1 99 22 9 13 0.59 intronic rs143782173 PIK3R6 AU NM_001290211 exon10 c.25293-173delG 0.107827 0.3115 Uncertain 17_8731711_G->C 17 8731711 8731711 G C snp 331.77 0/1 99 21 9 12 0.57 intronic rs561323992 PIK3R6 AU NM_001290211 exon10 c.25293-172G>C 0.107827 0.3115 Uncertain 17_8731712_G->A 17 8731712 8731712 G A snp 344.77 0/1 99 21 9 12 0.57 intronic rs531891787 PIK3R6 AU NM_001290211 exon10 c.25293-171G>A 0.107827 0.3115 Uncertain 17_8731741_A->G 17 8731741 8731741 A G snp 177.82 0/1 19 7 1 6 0.86 intronic rs73973230 PIK3R6 AU NM_001290211 exon10 c.25293-142A>G 0.116014 0.3115 Uncertain 17_8732382_T->C 17 8732382 8732382 T C snp 411.77 0/1 99 30 16 14 0.47 intronic rs72848129 PIK3R6 AU NM_001290211 exon10 c.25717+75T>C 0.142971 0.3284 Uncertain 17_8736394_T->C 17 8736394 8736394 T C snp 648.77 0/1 99 41 20 21 0.51 intronic rs12945801 PIK3R6 AU NM_001290211 exon12 c.29772+32T>C 0.47504 0.5397 0.398259 0.4764 0.6140 Uncertain 17_8736459_C->T 17 8736459 8736459 C T snp 57.77 0/1 86 10 7 3 0.3 intronic rs71371873 PIK3R6 AU NM_001290211 exon12 c.29772+97C>T 0.200679 0.3333 Uncertain 17_8738575_A->G 17 8738575 8738575 A G snp 166.77 0/1 99 12 5 7 0.58 intronic rs1005898 PIK3R6 AU NM_001290211 exon13 c.31999-14A>G 0.483027 0.5427 0.423650 0.5057 0.6433 Uncertain 17_8738831_C->T 17 8738831 8738831 C T snp 510.77 0/1 99 70 43 27 0.39 intronic rs2072088 PIK3R6 AU NM_001290211 exon13 c.32183+58C>T 0.102636 0.3105 Uncertain 17_8739821_G->C 17 8739821 8739821 G C snp 1122.77 0/1 99 80 37 43 0.54 intronic rs12948724 PIK3R6 AU NM_001290211 exon14 c.33273-42G>C 0.475839 0.5367 0.420023 0.4113 0.5862 Uncertain 17_8741377_T->G 17 8741377 8741377 T G snp 32.77 0/1 61 7 5 2 0.29 intronic rs8064777 PIK3R6 AU NM_001290211 exon16 c.34598+189T>G 0.322484 0.4494 Uncertain 17_8742052_C->A 17 8742052 8742052 C A snp 340.77 0/1 99 37 24 13 0.35 intronic rs117173485 PIK3R6 AU NM_001290211 exon17 c.35382+80C>A 0.00579073 0.0258 Uncertain 17_8742812_T->C 17 8742812 8742812 T C snp 44.77 0/1 33 3 1 2 0.67 intronic rs57194775 PIK3R6 AU NM_001290211 exon18 c.36340-118T>C 0.120008 0.0258 Uncertain 17_8742830_C->T 17 8742830 8742830 C T snp 83.77 0/1 69 5 2 3 0.6 intronic rs9910718 PIK3R6 AU NM_001290211 exon18 c.36340-100C>T 0.316494 0.129 Uncertain 17_8742862_C->T 17 8742862 8742862 C T snp 115.77 0/1 99 12 6 6 0.5 intronic rs9910741 PIK3R6 AU NM_001290211 exon18 c.36340-68C>T 0.15635 0.0377 Uncertain 17_8742864_C->T 17 8742864 8742864 C T snp 102.77 0/1 99 12 6 6 0.5 intronic rs60199991 PIK3R6 AU NM_001290211 exon18 c.36340-66C>T 0.0123802 0.0248 Uncertain 17_8743025_G->A 17 8743025 8743025 G A snp 1714.77 0/1 99 168 90 78 0.46 intronic rs149979813 PIK3R6 AU NM_001290211 exon18 c.36424+11G>A 0.00559105 0.0248 0.0047 0.0629 Uncertain 17_8743118_G->A 17 8743118 8743118 G A snp 1285.77 0/1 99 121 65 56 0.46 intronic rs16957654 PIK3R6 AU NM_001290211 exon18 c.36424+104G>A 0.351837 0.129 Uncertain 17_8792742_G->T 17 8792742 8792742 G T snp 270.77 0/1 94 12 3 9 0.75 intronic rs61759657 PIK3R5 AR NM_001251852 exon11 c.8584+203G>T 0.077476 0.2282 Uncertain 17_8812683_T->C 17 8812683 8812683 T C snp 34.77 0/1 33 3 1 2 0.67 intronic rs181534 PIK3R5 AR NM_001251852 exon17 c.28536+192T>C 0.615815 0.5327 Uncertain 17_9066001_C->T 17 9066001 9066001 C T snp 80.77 0/1 30 4 1 3 0.75 intronic rs2072321 NTN1 AU NM_004822 exon3 c.140439-128C>T 0.338259 0.3532 Uncertain 17_9066098_C->T 17 9066098 9066098 C T snp 695.77 0/1 99 49 21 28 0.57 intronic rs2286510 NTN1 AU NM_004822 exon3 c.140439-31C>T 0.332268 0.3482 0.362804 0.3710 0.3723 Uncertain 17_9066254_T->C 17 9066254 9066254 T C snp 1441.77 0/1 99 127 63 64 0.5 exonic rs2286511 NTN1 AU synonymous SNV NM_004822 exon3 c.T1143C p.H381H 0.126597 0.3423 0.031139 0.0799 0.3747 Uncertain 17_9086338_G->T 17 9086338 9086338 G T snp 2732.77 1/1 99 102 0 102 1.0 intronic rs11078789 NTN1 AU NM_004822 exon5 c.160596+52G>T 0.32528 0.5298 0.287541 0.3648 0.5473 Uncertain 17_9086712_C->T 17 9086712 9086712 C T snp 826.77 1/1 60 31 1 30 0.97 intronic rs56113014 NTN1 AU NM_004822 exon5 c.160596+426C>T 0.209864 0.4097 0.1769 0.4253 0.03 T 0.0 P -0.954 T Uncertain 17_9124464_T->- 17 9124464 9124464 T - indel 839.73 0/1 99 57 28 29 0.51 intronic rs3214279 NTN1 AU NM_004822 exon6 c.198794-20delT 0.088738 0.0705 0.1656 Uncertain 17_9142846_G->C 17 9142846 9142846 G C snp 191.77 0/1 99 13 6 7 0.54 intronic rs56235417 NTN1 AU NM_004822 exon7 c.217266-110G>C 0.145367 0.1667 Uncertain 17_9154103_T->C 17 9154103 9154103 T C snp 1101.77 0/1 99 57 22 35 0.61 intronic rs2072322 STX8 AU NM_004853 exon1 c.68+141T>C 0.142173 0.1617 Uncertain 17_9395034_T->C 17 9395034 9395034 T C snp 320.77 0/1 78 15 3 12 0.8 intronic rs7222078 STX8 AU NM_004853 exon3 c.241251-111T>C 0.190096 0.1538 Uncertain 17_9395231_G->A 17 9395231 9395231 G A snp 129.77 0/1 99 19 14 5 0.26 exonic rs9893664 STX8 AU synonymous SNV NM_004853 exon6 c.C456T p.D152D 0.71226 0.8462 0.730586 0.7856 0.8332 Uncertain 17_9408594_A->C 17 9408594 9408594 A C snp 257.77 0/1 99 17 7 10 0.59 intronic rs2249929 STX8 AU NM_004853 exon4 c.254585+115A>C 0.710463 0.8442 Uncertain 17_9408609_A->G 17 9408609 9408609 A G snp 107.77 0/1 99 13 8 5 0.38 intronic rs2125348 STX8 AU NM_004853 exon4 c.254585+130A>G 0.709465 0.8442 Uncertain 17_9471711_T->G 17 9471711 9471711 T G snp 882.77 1/1 63 35 0 35 1.0 exonic rs1133295 STX8 AU synonymous SNV NM_004853 exon2 c.A94C p.R32R 0.680112 0.9891 0.639090 0.7574 0.9854 Uncertain 17_9479048_T->C 17 9479048 9479048 T C snp 600.77 1/1 45 20 0 20 1.0 intronic rs7210038 STX8 AU NM_004853 exon8 c.325214-60T>C 0.751398 0.9871 0.745934 Uncertain 17_9479098_C->A 17 9479098 9479098 C A snp 1081.77 1/1 81 38 0 38 1.0 intronic rs7224817 STX8 AU NM_004853 exon8 c.325214-10C>A 0.667332 0.9871 0.629630 0.7103 0.9638 Uncertain 17_9479364_T->C 17 9479364 9479364 T C snp 955.77 1/1 72 29 0 29 1.0 upstream rs6503230 CFAP52 AU 0.729633 0.9871 Uncertain 17_9515777_G->A 17 9515777 9515777 G A snp 1728.77 0/1 99 193 114 79 0.41 exonic rs6503235 CFAP52 AU nonsynonymous SNV NM_001080556 exon7 c.G802A p.E268K 0.599641 0.5714 0.638013 0.7106 0.5709 0.75 T 0.000 P -0.914 T 0.001 T 0.002 T Pathogenic 17_9546551_G->A 17 9546551 9546551 G A snp 146.77 0/1 99 23 17 6 0.26 UTR3 rs274899 CFAP52 AU 0.632788 0.9325 0.414501 0.3887 0.9188 Uncertain 17_9559656_C->T 17 9559656 9559656 C T snp 476.77 0/1 99 44 25 19 0.43 intronic rs55968714 USP43 AU NM_001267576 exon2 c.10770-63C>T 0.116414 0.0794 Uncertain 17_9586165_C->T 17 9586165 9586165 C T snp 2819.77 0/1 99 222 91 131 0.59 exonic rs12453943 USP43 AU synonymous SNV NM_001267576 exon7 c.C1131T p.S377S 0.45008 0.6488 0.300212 0.3132 0.6040 Uncertain 17_9590319_T->G 17 9590319 9590319 T G snp 77.77 0/1 99 7 4 3 0.43 intronic rs7220651 USP43 AU NM_001267576 exon8 c.41277+93T>G 0.450679 0.6478 Uncertain 17_9613458_G->A 17 9613458 9613458 G A snp 120.77 0/1 69 7 3 4 0.57 intronic rs78155361 USP43 AU NM_001267576 exon13 c.64482+27G>A 0.071885 0.0427 0.055902 0.0469 0.0369 Uncertain 17_9632247_A->G 17 9632247 9632247 A G snp 1543.77 0/1 99 162 93 69 0.43 exonic rs12450515 USP43 AU synonymous SNV NM_001267576 exon15 c.A3297G p.R1099R 0.123003 0.3095 0.046619 0.0747 0.3401 Uncertain 17_9680451_T->C 17 9680451 9680451 T C snp 2127.77 1/1 99 66 0 66 1.0 intronic rs2272033 DHRS7C AU NM_001105571 exon3 c.5705-58T>C 0.258387 0.3433 Uncertain 17_9680679_C->T 17 9680679 9680679 C T snp 2277.77 1/1 99 69 0 69 1.0 intronic rs2272032 DHRS7C AU NM_001105571 exon3 c.5798+77C>T 0.23742 0.3423 Uncertain 17_9680710_C->T 17 9680710 9680710 C T snp 1378.77 1/1 99 39 0 39 1.0 intronic rs3817431 DHRS7C AU NM_001105571 exon3 c.5798+108C>T 0.165335 0.3085 Uncertain 17_9683087_G->C 17 9683087 9683087 G C snp 2389.77 1/1 99 90 0 90 1.0 intronic rs11078817 DHRS7C AU NM_001105571 exon4 c.8337-54G>C 0.4377 0.4405 Uncertain 17_9712092_G->A 17 9712092 9712092 G A snp 387.77 0/1 99 30 15 15 0.5 intergenic rs56256681 DHRS7C AU 0.480831 0.497 Uncertain 17_9712255_G->A 17 9712255 9712255 G A snp 1624.77 0/1 99 144 68 76 0.53 intergenic rs9908677 DHRS7C AU 0.514976 0.497 0.4203 0.5198 Uncertain 17_9714009_C->A 17 9714009 9714009 C A snp 1512.77 0/1 99 96 33 63 0.66 intergenic rs4079466 DHRS7C AU 0.74361 0.8591 Uncertain 17_9760716_G->T 17 9760716 9760716 G T snp 1006.77 0/1 99 90 41 49 0.54 intronic rs2293100 GLP2R AU NM_004246 exon6 c.31359-23G>T 0.277556 0.2867 0.186299 0.1891 0.2650 Uncertain 17_9763575_C->A 17 9763575 9763575 C A snp 45.77 0/1 74 8 4 4 0.5 intronic rs2272034 GLP2R AU NM_004246 exon7 c.34038+157C>A 0.373203 0.2867 Uncertain 17_9764531_A->G 17 9764531 9764531 A G snp 585.77 0/1 99 60 34 26 0.43 intronic rs2001486 GLP2R AU NM_004246 exon8 c.35136+15A>G 0.455671 0.2897 0.450792 0.3720 0.2712 Uncertain 17_9764613_A->G 17 9764613 9764613 A G snp 627.77 0/1 99 47 20 27 0.57 intronic rs2280493 GLP2R AU NM_004246 exon8 c.35136+97A>G 0.224441 0.4901 Uncertain 17_9768941_A->G 17 9768941 9768941 A G snp 426.77 0/1 99 29 15 14 0.48 intronic rs756224 GLP2R AU NM_004246 exon9 c.36027+3534A>G 0.46246 0.2956 Uncertain 17_9769199_T->C 17 9769199 9769199 T C snp 2540.77 0/1 99 187 89 98 0.52 intronic rs756223 GLP2R AU NM_004246 exon9 c.36027+3792T>C 0.342053 0.2927 0.2272 0.2737 0.02 T 0.0 P -0.967 T Uncertain 17_9769278_G->C 17 9769278 9769278 G C snp 1276.77 0/1 99 92 41 51 0.55 intronic rs4791896 GLP2R AU NM_004246 exon9 c.36027+3871G>C 0.342053 0.2927 Uncertain 17_9769372_T->C 17 9769372 9769372 T C snp 66.77 0/1 95 7 4 3 0.43 intronic rs75228212 GLP2R AU NM_004246 exon9 c.36027+3965T>C 0.227636 0.4861 Uncertain 17_9769373_G->T 17 9769373 9769373 G T snp 77.77 0/1 99 7 4 3 0.43 intronic rs79341611 GLP2R AU NM_004246 exon9 c.36027+3966G>T 0.227835 0.4861 Uncertain 17_9769374_T->A 17 9769374 9769374 T A snp 77.77 0/1 99 7 4 3 0.43 intronic rs76936762 GLP2R AU NM_004246 exon9 c.36027+3967T>A 0.227835 0.4861 Uncertain 17_9769376_C->A 17 9769376 9769376 C A snp 74.77 0/1 99 7 4 3 0.43 intronic rs71369636 GLP2R AU NM_004246 exon9 c.36027+3969C>A 0.227835 0.4861 Uncertain 17_9783566_G->C 17 9783566 9783566 G C snp 871.77 0/1 99 67 34 33 0.49 intronic rs4791903 GLP2R AU NM_004246 exon11 c.54314-128G>C 0.477835 0.2917 Uncertain 17_9783855_A->G 17 9783855 9783855 A G snp 1845.77 0/1 99 113 42 71 0.63 intronic rs2277690 GLP2R AU NM_004246 exon11 c.54453+22A>G 0.46226 0.2917 0.492004 0.4370 0.2780 Uncertain 17_9791159_G->A 17 9791159 9791159 G A snp 1159.77 0/1 99 95 46 49 0.52 intronic rs2240737 GLP2R AU NM_004246 exon12 c.61868-89G>A 0.225839 0.2847 Uncertain 17_9793232_C->T 17 9793232 9793232 C T snp 410.77 0/1 99 43 28 15 0.35 UTR3 GLP2R AU Uncertain 17_9801299_-->TGTGTGTG 17 9801299 9801299 - TGTGTGTG indel 470.73 0/1 99 15 9 6 0.4 UTR3 rs150159863 RCVRN AU Uncertain 17_9801351_A->G 17 9801351 9801351 A G snp 1274.77 0/1 99 88 44 44 0.5 UTR3 rs17744264 RCVRN AU 0.091853 0.0377 Uncertain 17_9801370_A->G 17 9801370 9801370 A G snp 1428.77 0/1 99 126 70 56 0.44 UTR3 rs16958933 RCVRN AU 0.158946 0.0377 0.261187 0.1958 0.0461 Uncertain 17_9801532_G->C 17 9801532 9801532 G C snp 2550.77 0/1 99 221 115 106 0.48 intronic rs76286617 RCVRN AU NM_002903 exon1 c.110+11G>C 0.190374 0.1763 0.0461 Uncertain 17_9801635_A->G 17 9801635 9801635 A G snp 1046.77 0/1 99 79 38 41 0.52 intronic rs62064489 RCVRN AU NM_002903 exon1 c.110+114A>G 0.091853 0.0377 Uncertain 17_9808571_T->G 17 9808571 9808571 T G snp 578.77 0/1 99 56 28 28 0.5 UTR5 rs2286531 RCVRN AU 0.293331 0.372 Uncertain 17_9820695_C->T 17 9820695 9820695 C T snp 5401.77 1/1 99 202 0 202 1.0 intronic rs4791910 GAS7 AU NM_003644 exon1 c.114+37C>T 0.465256 0.5417 0.529064 0.5263 0.5750 Uncertain 17_9821474_C->T 17 9821474 9821474 C T snp 2028.77 0/1 99 199 113 86 0.43 intronic rs2270122 GAS7 AU NM_003644 exon2 c.872+58C>T 0.272564 0.2927 Uncertain 17_9821614_-->A 17 9821614 9821614 - A indel 533.73 1/1 45 21 0 21 1.0 intronic rs397765699 GAS7 AU NM_003644 exon2 c.872+198insA Uncertain 17_9821618_T->G 17 9821618 9821618 T G snp 598.77 1/1 45 15 0 15 1.0 intronic rs55976773 GAS7 AU NM_003644 exon2 c.872+202T>G Uncertain 17_9828749_CTT->- 17 9828749 9828751 CTT - indel 2186.73 0/1 99 87 45 42 0.48 intronic rs10615654 GAS7 AU NM_003644 exon4 c.8248-43_8248-41delCTT 0.14377 0.0913 0.134904 0.1377 0.0848 Uncertain 17_9829886_G->T 17 9829886 9829886 G T snp 750.77 0/1 99 46 21 25 0.54 intronic rs7216815 GAS7 AU NM_003644 exon5 c.9413-71G>T 0.143171 0.0913 Uncertain 17_9830100_A->G 17 9830100 9830100 A G snp 1908.77 0/1 99 201 116 85 0.42 intronic rs7218907 GAS7 AU NM_003644 exon5 c.9542+14A>G 0.0607029 0.0843 0.027141 0.0273 0.0765 ID=COSN165330;OCCURENCE=1(breast) Uncertain 17_9846365_G->A 17 9846365 9846365 G A snp 267.77 0/1 99 16 6 10 0.63 intronic rs2240740 GAS7 AU NM_003644 exon8 c.25893-72G>A 0.107228 0.0694 Uncertain 17_9846389_G->A 17 9846389 9846389 G A snp 364.77 0/1 99 28 14 14 0.5 intronic rs2240741 GAS7 AU NM_003644 exon8 c.25893-48G>A 0.110024 0.0694 0.084423 0.0517 0.0657 Uncertain 17_9850129_A->G 17 9850129 9850129 A G snp 74.77 0/1 99 7 4 3 0.43 intronic rs9901715 GAS7 AU NM_003644 exon9 c.29666-81A>G 0.103435 0.0694 Uncertain 17_10101431_G->C 17 10101431 10101431 G C snp 649.77 1/1 48 21 0 21 1.0 intronic rs544167147 GAS7 AU NM_201433 exon14 c.280980-93G>C 0.00359425 0.0179 Uncertain 17_10205067_C->T 17 10205067 10205067 C T snp 4314.77 1/1 99 160 0 160 1.0 intronic rs2008528 MYH13 AU NM_003802 exon2 c.753+47C>T 0.997005 1 0.996827 0.9993 1 Uncertain 17_10214628_C->T 17 10214628 10214628 C T snp 3327.77 1/1 99 117 0 117 1.0 intronic rs2074867 MYH13 AU NM_003802 exon9 c.10277+84C>T 0.570687 0.3958 Uncertain 17_10216442_C->A 17 10216442 10216442 C A snp 2031.77 1/1 99 80 0 80 1.0 intronic rs4239113 MYH13 AU NM_003802 exon12 c.12207-32C>A 0.645966 0.4931 0.733046 0.6802 0.5191 Uncertain 17_10216510_G->A 17 10216510 10216510 G A snp 1074.77 0/1 99 85 44 41 0.48 exonic rs4791401 MYH13 AU synonymous SNV NM_003802 exon30 c.C4146T p.D1382D 0.305312 0.2312 0.384054 0.3596 0.2463 Uncertain 17_10219113_C->T 17 10219113 10219113 C T snp 1826.77 0/1 99 148 74 74 0.5 exonic rs17690195 MYH13 AU nonsynonymous SNV NM_003802 exon29 c.G3881A p.R1294Q 0.143171 0.1567 0.122707 0.1645 0.1730 1 T 0.002 P -1.069 T 0.0 T 0.001 T Pathogenic 17_10219366_C->T 17 10219366 10219366 C T snp 2814.77 1/1 99 104 1 103 0.99 intronic rs2240577 MYH13 AU NM_003802 exon14 c.15075+24C>T 0.826478 0.8175 0.815266 0.7973 0.8345 Uncertain 17_10219470_A->T 17 10219470 10219470 A T snp 612.77 1/1 45 18 0 18 1.0 intronic rs2240578 MYH13 AU NM_003802 exon14 c.15075+128A>T 0.57508 0.4911 Uncertain 17_10222061_G->A 17 10222061 10222061 G A snp 538.77 0/1 99 34 10 24 0.71 intronic rs2074872 MYH13 AU NM_003802 exon15 c.17839-45G>A 0.308307 0.2341 0.383213 0.3623 0.2466 Uncertain 17_10223714_T->C 17 10223714 10223714 T C snp 3713.77 1/1 99 134 0 134 1.0 exonic rs2074877 MYH13 AU nonsynonymous SNV NM_003802 exon25 c.A3211G p.M1071V 0.544928 0.4087 0.635487 0.6006 0.4546 0.2 T 0.091 P -0.937 T 0.0 T 0.002 T ID=CM071869;DIS=Alzheimer disease, late-onset, association with;TAG=DP;PUB=17317784 DP Pathogenic 17_10227708_C->T 17 10227708 10227708 C T snp 525.77 0/1 99 36 18 18 0.5 intronic rs3826442 MYH13 AU NM_003802 exon19 c.23314+127C>T 0.496605 0.3909 Uncertain 17_10231417_C->T 17 10231417 10231417 C T snp 887.77 0/1 99 100 58 42 0.42 exonic rs2277644 MYH13 AU synonymous SNV NM_003802 exon22 c.G2457A p.Q819Q 0.275359 0.5159 0.181993 0.2306 0.5257 Uncertain 17_10231498_A->C 17 10231498 10231498 A C snp 1118.77 1/1 84 35 0 35 1.0 intronic rs2277645 MYH13 AU NM_003802 exon20 c.27171+60A>C 0.727037 0.9127 Uncertain 17_10235360_G->C 17 10235360 10235360 G C snp 393.77 1/1 30 13 0 13 1.0 intronic rs8064714 MYH13 AU NM_003802 exon22 c.31148-55G>C 0.773163 0.9623 Uncertain 17_10236199_A->C 17 10236199 10236199 A C snp 153.77 0/1 99 11 6 5 0.45 intronic rs11654733 MYH13 AU NM_003802 exon23 c.32123-191A>C 0.313698 0.5139 Uncertain 17_10236465_G->A 17 10236465 10236465 G A snp 1410.77 0/1 99 124 69 55 0.44 exonic rs2240579 MYH13 AU synonymous SNV NM_003802 exon19 c.C2100T p.N700N 0.428514 0.3968 0.556069 0.5302 0.4412 Uncertain 17_10243589_C->A 17 10243589 10243589 C A snp 4892.77 1/1 99 178 0 178 1.0 intronic rs4445936 MYH13 AU NM_003802 exon24 c.39287+35C>A 0.754792 0.8909 0.787418 0.8072 0.8819 Uncertain 17_10243717_G->A 17 10243717 10243717 G A snp 1169.77 1/1 87 36 0 36 1.0 exonic rs3760423 MYH13 AU synonymous SNV NM_003802 exon17 c.C1896T p.G632G 0.763978 0.9395 0.788387 0.8124 0.9386 Uncertain 17_10243789_T->C 17 10243789 10243789 T C snp 182.9 1/1 15 5 0 5 1.0 intronic rs3760424 MYH13 AU NM_003802 exon25 c.39451+71T>C 0.754992 0.8909 Uncertain 17_10249087_G->A 17 10249087 10249087 G A snp 157.77 0/1 99 19 12 7 0.37 intronic rs1812043 MYH13 AU NM_003802 exon28 c.44666+154G>A 0.317891 0.5427 Uncertain 17_10249888_-->A 17 10249888 10249888 - A indel 1843.73 1/1 99 48 0 48 1.0 intronic rs34168540 MYH13 AU NM_003802 exon29 c.45729-108insA 0.758387 0.8889 Uncertain 17_10254197_A->G 17 10254197 10254197 A G snp 1934.77 1/1 99 62 0 62 1.0 intronic rs2108568 MYH13 AU NM_003802 exon30 c.49744+186A>G 0.99361 1 Uncertain 17_10258154_T->- 17 10258154 10258154 T - indel 1524.73 0/1 99 104 35 69 0.66 intronic rs3214260 MYH13 AU NM_003802 exon31 c.53833+54delT 0.00439297 Uncertain 17_10258155_T->C 17 10258155 10258155 T C snp 1316.77 0/1 99 103 44 59 0.57 intronic rs5010940 MYH13 AU NM_003802 exon31 c.53833+55T>C 0.00439297 Uncertain 17_10314375_G->A 17 10314375 10314375 G A snp 566.77 1/1 42 18 0 18 1.0 ncRNA_intronic rs12601552 MYHAS AU 0.503195 0.876 Uncertain 17_10314395_C->T 17 10314395 10314395 C T snp 354.78 1/1 27 11 0 11 1.0 ncRNA_intronic rs12601678 MYHAS AU 0.503195 0.876 Uncertain 17_10317831_A->G 17 10317831 10317831 A G snp 871.77 1/1 63 32 0 32 1.0 ncRNA_intronic rs4791406 MYHAS AU 0.525759 0.876 0.373433 0.5289 0.8890 Uncertain 17_10317842_A->G 17 10317842 10317842 A G snp 839.77 1/1 60 31 0 31 1.0 ncRNA_intronic rs4791407 MYHAS AU 0.525759 0.876 0.375891 0.5307 0.8885 Uncertain 17_10317940_A->G 17 10317940 10317940 A G snp 261.8 1/1 21 8 0 8 1.0 ncRNA_intronic rs4791408 MYHAS AU 0.536542 0.876 Uncertain 17_10318636_A->G 17 10318636 10318636 A G snp 3348.77 1/1 99 113 0 113 1.0 exonic rs8068729 MYH8 AU,AD synonymous SNV NM_002472 exon8 c.T714C p.T238T 0.86242 0.998 0.856682 0.9224 0.9998 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000117694.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 17_10319148_A->G 17 10319148 10319148 A G snp 141.03 1/1 12 4 0 4 1.0 ncRNA_intronic rs7216301 MYHAS AU 0.535543 0.877 Uncertain 17_10346781_T->C 17 10346781 10346781 T C snp 2693.77 1/1 99 98 0 98 1.0 exonic rs3744554 MYH4 AU nonsynonymous SNV NM_017533 exon40 c.A5731G p.K1911E 0.533147 0.8631 0.395356 0.4950 0.8732 1 T 0.000 P -0.931 T 0.0 T 0.0 T Pathogenic 17_10348354_T->C 17 10348354 10348354 T C snp 3193.69 1/1 99 105 0 105 1.0 exonic rs2277649 MYH4 AU nonsynonymous SNV NM_017533 exon37 c.A5405G p.D1802G 0.454872 0.8214 0.321928 0.4282 0.8417 0 D 1.000 P -0.909 T 0.993 D 0.969 D Pathogenic 17_10348705_-->GAAGC 17 10348705 10348705 - GAAGC indel 4347.73 1/1 99 61 0 61 1.0 ncRNA_intronic rs3833153 MYHAS AU 0.447684 0.8214 0.4251 0.8402 Uncertain 17_10355371_C->T 17 10355371 10355371 C T snp 2611.77 1/1 99 98 0 98 1.0 exonic rs11651295 MYH4 AU nonsynonymous SNV NM_017533 exon27 c.G3625A p.E1209K 0.507987 0.8631 0.347609 0.4522 0.8730 0 D 1.000 P -0.903 T 0.984 D 0.911 D Pathogenic 17_10355763_T->C 17 10355763 10355763 T C snp 2416.77 1/1 99 90 0 90 1.0 exonic rs917361 MYH4 AU nonsynonymous SNV NM_017533 exon26 c.A3318G p.I1106M 0.533946 0.8631 0.396894 0.4930 0.8731 0.22 T 0.000 P -0.964 T 0.0 T 0.003 T Pathogenic 17_10356816_C->G 17 10356816 10356816 C G snp 645.77 1/1 48 18 0 18 1.0 ncRNA_intronic rs3744557 MYHAS AU 0.533347 0.8621 Uncertain 17_10360016_C->G 17 10360016 10360016 C G snp 1228.77 1/1 90 35 0 35 1.0 ncRNA_intronic rs2041123 MYHAS AU 0.43131 0.8214 Uncertain 17_10360065_T->G 17 10360065 10360065 T G snp 408.77 1/1 33 11 0 11 1.0 ncRNA_intronic rs2041124 MYHAS AU 0.512181 0.8631 Uncertain 17_10362746_A->G 17 10362746 10362746 A G snp 3217.75 1/1 99 114 0 114 1.0 ncRNA_intronic rs2058099 MYHAS AU 0.532947 0.8631 0.394741 0.4939 0.8734 Uncertain 17_10363410_A->G 17 10363410 10363410 A G snp 6924.77 1/1 99 249 0 249 1.0 exonic rs3744561 MYH4 AU synonymous SNV NM_017533 exon14 c.T1275C p.N425N 0.535543 0.8601 0.397893 0.4949 0.8732 Uncertain 17_10364191_T->C 17 10364191 10364191 T C snp 648.77 1/1 48 19 0 19 1.0 ncRNA_intronic rs1029665 MYHAS AU 0.536342 0.8631 0.397893 0.4950 0.8732 Uncertain 17_10399897_A->G 17 10399897 10399897 A G snp 6564.77 1/1 99 237 1 236 1.0 ncRNA_intronic rs3744563 MYHAS AU 0.523163 0.8641 0.385497 0.4920 0.8744 Uncertain 17_10404118_A->G 17 10404118 10404118 A G snp 1438.77 0/1 99 100 42 58 0.58 ncRNA_intronic rs72816758 MYHAS AU 0.11901 0.254 0.088036 0.1286 0.2764 Uncertain 17_10408221_T->A 17 10408221 10408221 T A snp 2068.77 0/1 99 202 108 94 0.47 exonic MYH1 AU nonsynonymous SNV NM_005963 exon22 c.A2597T p.E866V 0.16 T 1 N -0.695 T 0.021 T 0.049 T Pathogenic 17_10411335_-->T 17 10411335 10411335 - T indel 885.73 1/1 46 49 3 46 0.94 ncRNA_intronic rs571060607 MYHAS AU 0.522963 0.8522 0.369871 Uncertain 17_10411370_T->C 17 10411370 10411370 T C snp 520.77 1/1 45 17 0 17 1.0 ncRNA_intronic rs4791995 MYHAS AU 0.455072 0.8214 Uncertain 17_10411397_G->A 17 10411397 10411397 G A snp 255.8 1/1 21 10 0 10 1.0 ncRNA_intronic rs4791996 MYHAS AU 0.548323 0.8631 Uncertain 17_10411632_A->G 17 10411632 10411632 A G snp 757.77 1/1 57 23 0 23 1.0 ncRNA_intronic rs35152572 MYHAS AU 0.523163 0.8631 0.384657 0.4885 0.8736 Uncertain 17_10414284_C->A 17 10414284 10414284 C A snp 589.77 1/1 51 27 0 27 1.0 ncRNA_intronic rs8082000 MYHAS AU 0.507987 0.8621 Uncertain 17_10415840_A->G 17 10415840 10415840 A G snp 5668.77 1/1 99 203 1 202 1.0 exonic rs2007027 MYH1 AU synonymous SNV NM_005963 exon12 c.T1032C p.F344F 0.88139 0.998 0.875903 0.9288 0.9998 Uncertain 17_10418275_T->G 17 10418275 10418275 T G snp 2289.77 1/1 99 86 0 86 1.0 ncRNA_intronic rs1017068 MYHAS AU 0.51238 0.8631 0.363935 Uncertain 17_10427924_G->A 17 10427924 10427924 G A snp 3404.77 1/1 99 111 0 111 1.0 exonic rs1042236 MYH2 AR,AD synonymous SNV NM_017534 exon35 c.C5034T p.A1678A 0.31889 0.7302 0.142242 0.2561 0.7535 Uncertain 17_10431275_A->G 17 10431275 10431275 A G snp 126.03 1/1 12 4 0 4 1.0 ncRNA_intronic rs12952334 MYHAS AU 0.51897 0.8343 Uncertain 17_10431877_-->T 17 10431877 10431877 - T indel 642.73 1/1 60 20 0 20 1.0 ncRNA_intronic rs11372676 MYHAS AU 0.510383 0.8343 Uncertain 17_10432638_T->C 17 10432638 10432638 T C snp 5136.77 1/1 99 166 0 166 1.0 ncRNA_intronic rs2277651 MYHAS AU 0.449081 0.8016 0.314547 0.4196 0.8293 Uncertain 17_10434925_T->C 17 10434925 10434925 T C snp 7263.77 1/1 99 250 0 250 1.0 ncRNA_intronic rs3744565 MYHAS AU 0.510184 0.8333 0.375519 0.4794 0.8527 Uncertain 17_10435325_-->A 17 10435325 10435325 - A indel 741.73 1/1 69 33 0 33 1.0 ncRNA_intronic rs11379780 MYHAS AU 0.880791 0.998 Uncertain 17_10442977_T->C 17 10442977 10442977 T C snp 2221.77 1/1 99 74 0 74 1.0 ncRNA_intronic rs2277653 MYHAS AU 0.522764 0.8492 Uncertain 17_10446182_C->T 17 10446182 10446182 C T snp 1552.77 1/1 99 56 0 56 1.0 ncRNA_intronic rs719277 MYHAS AU 0.510783 0.8333 0.373730 0.4994 0.8546 Uncertain 17_10446508_T->G 17 10446508 10446508 T G snp 467.77 1/1 36 15 0 15 1.0 ncRNA_intronic rs11078849 MYHAS AU 0.522764 0.8492 0.382138 0.4929 0.8668 Uncertain 17_10448769_A->T 17 10448769 10448769 A T snp 1428.77 1/1 99 60 0 60 1.0 exonic rs11078850 MYH2 AR,AD synonymous SNV NM_017534 exon5 c.T399A p.P133P 0.516773 0.8333 0.382439 0.4808 0.8526 Uncertain 17_10450816_T->C 17 10450816 10450816 T C snp 2726.77 1/1 99 82 0 82 1.0 exonic rs12600539 MYH2 AR,AD synonymous SNV NM_017534 exon4 c.A324G p.E108E 0.54353 0.8492 0.408427 0.4922 0.8665 Uncertain 17_10533595_-->T 17 10533595 10533595 - T indel 1735.73 0/1 99 71 24 47 0.66 intronic rs3216886 MYH3 AD NM_002470 exon5 c.1635-9insT 0.513578 0.5367 0.585783 0.6413 0.5262 Uncertain 17_10535349_C->G 17 10535349 10535349 C G snp 78.78 0/1 24 5 1 4 0.8 intronic rs2239936 MYH3 AD NM_002470 exon7 c.3364+16C>G 0.723842 0.5536 0.798416 0.7591 0.5454 Uncertain 17_10535761_G->A 17 10535761 10535761 G A snp 226.77 0/1 99 12 5 7 0.58 intronic rs4792008 MYH3 AD NM_002470 exon8 c.3823-31G>A 0.466853 0.3849 0.581193 0.6095 0.3646 Uncertain 17_10536018_G->A 17 10536018 10536018 G A snp 2524.77 0/1 99 193 82 111 0.58 exonic rs2285479 MYH3 AD synonymous SNV NM_002470 exon34 c.C4731T p.I1577I 0.469649 0.3849 0.583807 0.6089 0.3640 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000117675.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 17_10536184_A->G 17 10536184 10536184 A G snp 661.77 0/1 99 29 6 23 0.79 intronic rs2285478 MYH3 AD NM_002470 exon8 c.4132+83A>G 0.469449 0.3849 Uncertain 17_10536235_T->C 17 10536235 10536235 T C snp 80.77 0/1 53 5 2 3 0.6 intronic rs1981514 MYH3 AD NM_002470 exon8 c.4132+134T>C 0.55611 0.3899 Uncertain 17_10541515_C->T 17 10541515 10541515 C T snp 1483.77 0/1 99 110 46 64 0.58 exonic rs2285477 MYH3 AD nonsynonymous SNV NM_002470 exon27 c.G3574A p.A1192T 0.586462 0.3929 0.716285 0.6902 0.3770 0.68 T 0.000 P -0.969 T 0.014 T 0.02 T CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000117670.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 17_10541741_A->G 17 10541741 10541741 A G snp 666.77 0/1 99 67 38 29 0.43 exonic rs201626 MYH3 AD synonymous SNV NM_002470 exon27 c.T3348C p.I1116I 0.260982 0.5923 0.102486 0.1888 0.6097 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000117669.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 17_10542471_T->G 17 10542471 10542471 T G snp 2456.77 0/1 99 191 98 93 0.49 exonic rs2285475 MYH3 AD synonymous SNV NM_002470 exon25 c.A3138C p.R1046R 0.466454 0.3839 0.581655 0.6085 0.3634 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000117668.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 17_10542765_A->G 17 10542765 10542765 A G snp 475.77 0/1 99 35 17 18 0.51 exonic rs2285474 MYH3 AD synonymous SNV NM_002470 exon24 c.T2952C p.S984S 0.466454 0.3839 0.581962 0.6094 0.3671 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000117665.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 17_10542803_T->C 17 10542803 10542803 T C snp 444.77 0/1 99 35 19 16 0.46 intronic rs2285473 MYH3 AD NM_002470 exon18 c.10822+12T>C 0.466454 0.3839 0.581962 0.6088 0.3641 Uncertain 17_10542886_T->C 17 10542886 10542886 T C snp 407.77 0/1 99 40 20 20 0.5 exonic rs2285472 MYH3 AD synonymous SNV NM_002470 exon23 c.A2916G p.T972T 0.466254 0.3839 0.582039 0.6085 0.3638 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000117664.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 17_10543183_A->G 17 10543183 10543183 A G snp 168.77 0/1 99 16 10 6 0.38 intronic rs2285471 MYH3 AD NM_002470 exon19 c.11150+64A>G 0.466454 0.3839 Uncertain 17_10543218_A->G 17 10543218 10543218 A G snp 97.77 0/1 99 13 9 4 0.31 intronic rs2285470 MYH3 AD NM_002470 exon20 c.11343-94A>G 0.466454 0.3839 Uncertain 17_10543282_AA->- 17 10543282 10543283 AA - indel 405.73 0/1 99 23 7 16 0.7 intronic rs138188093 MYH3 AD NM_002470 exon20 c.11343-30_11343-29delAA 0.438498 0.3611 0.5535 0.3904 Uncertain 17_10543463_T->C 17 10543463 10543463 T C snp 1670.77 0/1 99 112 46 66 0.59 exonic rs2285469 MYH3 AD synonymous SNV NM_002470 exon22 c.A2532G p.A844A 0.466454 0.3839 0.582039 0.6085 0.3634 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000117662.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 17_10544018_T->C 17 10544018 10544018 T C snp 566.77 0/1 99 49 29 20 0.41 intronic rs876660 MYH3 AD NM_002470 exon22 c.12034+15T>C 0.466653 0.3839 0.582193 0.6140 0.3754 Uncertain 17_10544416_G->T 17 10544416 10544416 G T snp 118.77 0/1 99 12 6 6 0.5 exonic rs876657 MYH3 AD synonymous SNV NM_002470 exon19 c.C2151A p.G717G 0.581732 0.6092 0.3634 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000117661.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 17_10544697_A->- 17 10544697 10544697 A - indel 416.73 0/1 99 46 23 23 0.5 intronic rs3216884 MYH3 AD NM_002470 exon24 c.12720+8delA 0.467252 0.3829 0.6242 0.3886 Uncertain 17_10546130_T->G 17 10546130 10546130 T G snp 1599.77 0/1 99 114 45 69 0.61 intronic rs2285468 MYH3 AD NM_002470 exon27 c.14173-12T>G 0.525958 0.3859 0.6505 0.3645 Uncertain 17_10548992_C->T 17 10548992 10548992 C T snp 37.77 0/1 66 6 4 2 0.33 intronic rs2239934 MYH3 AD NM_002470 exon30 c.17054-31C>T 0.466054 0.373 0.581578 0.6075 0.3494 Uncertain 17_10549184_G->A 17 10549184 10549184 G A snp 2625.77 0/1 99 202 93 109 0.54 intronic rs2239933 MYH3 AD NM_002470 exon30 c.17193+22G>A 0.464257 0.375 0.581424 0.6073 0.3506 Uncertain 17_10553046_A->G 17 10553046 10553046 A G snp 655.77 0/1 99 57 29 28 0.49 intronic rs1989810 MYH3 AD NM_002470 exon35 c.21033+44A>G 0.525759 0.3849 0.650930 0.6505 0.3633 Uncertain 17_10555028_G->A 17 10555028 10555028 G A snp 366.77 0/1 99 33 19 14 0.42 intronic rs2285466 MYH3 AD NM_002470 exon37 c.23016+43G>A 0.464058 0.375 0.581424 0.6076 0.3511 Uncertain 17_10595388_A->G 17 10595388 10595388 A G snp 2393.77 1/1 99 77 0 77 1.0 intronic rs2520178 SCO1 AR,AO NM_004589 exon3 c.10846+107A>G 0.998802 1 Uncertain 17_10599294_A->C 17 10599294 10599294 A C snp 43.77 0/1 72 4 2 2 0.5 intronic rs4792018 SCO1 AR,AO NM_004589 exon5 c.14713+146A>C 0.468251 0.5546 Uncertain 17_10599304_T->C 17 10599304 10599304 T C snp 43.77 0/1 72 4 2 2 0.5 intronic rs4792019 SCO1 AR,AO NM_004589 exon5 c.14713+156T>C 0.468251 0.5546 Uncertain 17_10614052_T->- 17 10614052 10614052 T - indel 191.73 0/1 99 20 11 9 0.45 intronic rs3215180 ADPRM AU NM_020233 exon4 c.5907-98delT 0.497604 0.4117 Uncertain 17_10614442_A->G 17 10614442 10614442 A G snp 936.77 0/1 99 71 30 41 0.58 exonic rs406446 ADPRM AU nonsynonymous SNV NM_020233 exon4 c.A1010G p.E337G 0.48722 0.3938 0.512302 0.4396 0.3784 0.1 T 1.000 P -0.942 T 0.18 T 0.035 T Pathogenic 17_10618665_-->AACT 17 10618665 10618665 - AACT indel 305.73 0/1 99 8 3 5 0.63 UTR3 rs10676707 TMEM220 AU Uncertain 17_10628207_C->G 17 10628207 10628207 C G snp 71.77 0/1 99 7 4 3 0.43 intronic rs434603 TMEM220 AU NM_001004313 exon3 c.9558-120C>G 0.539936 0.5615 Uncertain 17_10629579_C->T 17 10629579 10629579 C T snp 1227.77 0/1 99 123 70 53 0.43 exonic rs80037051 TMEM220 AU synonymous SNV NM_001004313 exon3 c.G105A p.V35V 0.00159744 0.0079 0.0003 0.0037 Uncertain 17_10632174_A->G 17 10632174 10632174 A G snp 149.77 0/1 99 13 6 7 0.54 intronic rs453318 TMEM220 AU NM_001004313 exon5 c.13578-173A>G 0.443091 0.3958 Uncertain 17_10632499_G->A 17 10632499 10632499 G A snp 493.77 0/1 99 27 10 17 0.63 intronic rs421541 TMEM220 AU NM_001004313 exon5 c.13608+122G>A 0.539936 0.5615 Uncertain 17_10632535_C->T 17 10632535 10632535 C T snp 295.77 0/1 99 15 5 10 0.67 intronic rs378707 TMEM220 AU NM_001004313 exon5 c.13608+158C>T 0.532548 0.5605 Uncertain 17_10633181_A->G 17 10633181 10633181 A G snp 840.77 0/1 99 95 56 39 0.41 ncRNA_exonic rs3826448 TMEM220-AS1 AU 0.538538 0.5615 0.377927 0.4921 0.4219 Uncertain 17_10633245_T->C 17 10633245 10633245 T C snp 2300.77 1/1 99 87 0 87 1.0 ncRNA_intronic rs202312 TMEM220-AS1 AU 0.999601 1 Uncertain 17_10633321_C->T 17 10633321 10633321 C T snp 277.77 0/1 99 36 22 14 0.39 ncRNA_intronic TMEM220-AS1 AU Uncertain 17_10633321_-->G 17 10633321 10633321 - G indel 1476.73 1/1 99 36 0 36 1.0 ncRNA_intronic rs369235656 TMEM220-AS1 AU Uncertain 17_10633358_C->T 17 10633358 10633358 C T snp 134.77 0/1 99 11 6 5 0.45 ncRNA_intronic rs202311 TMEM220-AS1 AU 0.498602 0.4157 Uncertain 17_11145535_T->G 17 11145535 11145535 T G snp 86.28 1/1 9 3 0 3 1.0 intronic rs72635524 SHISA6 AU NM_001173462 exon1 c.638+158T>G 0.392173 0.4286 Uncertain 17_11166782_G->A 17 11166782 11166782 G A snp 1108.77 0/1 99 97 48 49 0.51 exonic rs62000368 SHISA6 AU synonymous SNV NM_001173461 exon2 c.G738A p.T246T 0.10024 0.1677 0.081472 0.0813 0.1608 Uncertain 17_11455359_C->T 17 11455359 11455359 C T snp 4134.77 1/1 99 140 0 140 1.0 intronic rs2969191 SHISA6 AU NM_207386 exon4 c.310530+90C>T 0.629393 0.6756 Uncertain 17_11459012_G->C 17 11459012 11459012 G C snp 592.77 1/1 45 15 0 15 1.0 intronic rs1030055 SHISA6 AU NM_001173462 exon4 c.314317-44G>C 0.774361 0.878 0.663820 0.6868 0.8968 Uncertain 17_11501730_C->A 17 11501730 11501730 C A snp 39.74 1/1 6 3 0 3 1.0 upstream rs917507 DNAH9 AU 0.996805 1 Uncertain 17_11511412_A->G 17 11511412 11511412 A G snp 1129.77 1/1 84 32 0 32 1.0 intronic rs4792156 DNAH9 AU NM_001372 exon2 c.9630-33A>G 0.990216 1 0.991927 0.9974 0.9999 Uncertain 17_11511457_C->T 17 11511457 11511457 C T snp 861.77 0/1 99 69 35 34 0.49 exonic rs11078022 DNAH9 AU synonymous SNV NM_001372 exon2 c.C429T p.P143P 0.443291 0.5417 0.345994 0.4522 0.5467 Uncertain 17_11513661_C->T 17 11513661 11513661 C T snp 394.77 1/1 30 15 0 15 1.0 intronic rs2191072 DNAH9 AU NM_001372 exon3 c.11897-51C>T 0.990216 1 0.992326 Uncertain 17_11522764_G->A 17 11522764 11522764 G A snp 1298.77 1/1 93 43 0 43 1.0 intronic rs10852799 DNAH9 AU NM_001372 exon6 c.21049-100G>A 0.972644 0.999 Uncertain 17_11523082_A->G 17 11523082 11523082 A G snp 2409.77 1/1 99 84 0 84 1.0 exonic rs9892256 DNAH9 AU nonsynonymous SNV NM_001372 exon6 c.A1334G p.Q445R 0.990216 1 0.991773 0.9975 1 1 T 0.034 P -0.966 T 0.0 T 0.0 T Pathogenic 17_11555990_T->C 17 11555990 11555990 T C snp 210.84 1/1 18 6 0 6 1.0 intronic rs4792159 DNAH9 AU NM_001372 exon14 c.54262-87T>C 0.65595 0.6944 Uncertain 17_11583089_T->C 17 11583089 11583089 T C snp 4613.77 1/1 99 172 0 172 1.0 exonic rs8071438 DNAH9 AU synonymous SNV NM_001372 exon18 c.T3369C p.D1123D 0.947883 0.9147 0.968322 0.9722 0.9149 Uncertain 17_11597930_T->G 17 11597930 11597930 T G snp 136.03 1/1 12 4 0 4 1.0 intronic rs12946303 DNAH9 AU NM_001372 exon22 c.95949+166T>G 0.805511 0.9117 Uncertain 17_11602870_C->T 17 11602870 11602870 C T snp 326.77 0/1 99 24 12 12 0.5 intronic rs76631889 DNAH9 AU NM_001372 exon23 c.101232-177C>T 0.0253594 0.0635 Uncertain 17_11603300_G->T 17 11603300 11603300 G T snp 94.28 1/1 9 3 0 3 1.0 intronic rs887233 DNAH9 AU NM_001372 exon23 c.101385+100G>T 0.75 0.87 Uncertain 17_11604598_T->A 17 11604598 11604598 T A snp 727.77 1/1 54 22 0 22 1.0 intronic rs7214186 DNAH9 AU NM_001372 exon24 c.102749+34T>A 0.923722 0.8998 0.945794 0.9650 0.9007 Uncertain 17_11608475_G->A 17 11608475 11608475 G A snp 1188.77 0/1 99 125 69 56 0.45 exonic rs184471981 DNAH9 AU nonsynonymous SNV NM_001372 exon26 c.G5525A p.R1842H 0.000399361 0.002 0.0002 0.0029 0 D 1 D -0.477 T 1.0 D 0.998 D ID=COSM1163138;OCCURENCE=1(pancreas) Pathogenic 17_11622460_C->T 17 11622460 11622460 C T snp 298.78 1/1 24 8 0 8 1.0 intronic rs12945440 DNAH9 AU NM_001372 exon27 c.120835-190C>T 0.843051 0.8978 Uncertain 17_11622494_A->G 17 11622494 11622494 A G snp 913.77 1/1 69 25 0 25 1.0 intronic rs12945437 DNAH9 AU NM_001372 exon27 c.120835-156A>G 0.780351 0.872 Uncertain 17_11622953_G->A 17 11622953 11622953 G A snp 297.78 1/1 24 8 0 8 1.0 intronic rs8076210 DNAH9 AU NM_001372 exon27 c.120992+146G>A 0.924121 0.8998 Uncertain 17_11645786_T->A 17 11645786 11645786 T A snp 126.03 1/1 12 4 0 4 1.0 intronic rs8082578 DNAH9 AU NM_001372 exon30 c.143815+156T>A 0.942891 1 Uncertain 17_11648332_C->T 17 11648332 11648332 C T snp 7088.77 1/1 99 246 0 246 1.0 exonic rs3744578 DNAH9 AU synonymous SNV NM_001372 exon31 c.C6330T p.N2110N 0.770168 0.9345 0.735891 0.7938 0.9103 Uncertain 17_11648444_T->C 17 11648444 11648444 T C snp 3294.77 1/1 99 104 0 104 1.0 intronic rs3744580 DNAH9 AU NM_001372 exon31 c.146586+43T>C 0.6252 0.6706 0.610949 0.6775 0.6829 Uncertain 17_11651057_A->G 17 11651057 11651057 A G snp 503.77 0/1 99 74 50 24 0.32 exonic rs3744581 DNAH9 AU nonsynonymous SNV NM_001372 exon32 c.A6584G p.N2195S 0.224641 0.3294 0.216131 0.2213 0.3799 0.08 T 1.0 P -1.295 T 0.874 T 0.734 P ID=CM065137;DIS=Colorectal cancer, increased risk, association with;TAG=DP;PUB=17000706 DP Pathogenic 17_11660722_G->T 17 11660722 11660722 G T snp 439.77 1/1 33 15 0 15 1.0 intronic rs11078030 DNAH9 AU NM_001372 exon35 c.159046-139G>T 0.903754 0.9067 Uncertain 17_11666674_T->C 17 11666674 11666674 T C snp 146.77 0/1 99 12 6 6 0.5 intronic rs2277657 DNAH9 AU NM_001372 exon36 c.164941-82T>C 0.526558 0.5913 Uncertain 17_11687521_G->T 17 11687521 11687521 G T snp 430.77 0/1 99 36 20 16 0.44 intronic rs7215021 DNAH9 AU NM_001372 exon41 c.185801-95G>T 0.135982 0.121 Uncertain 17_11725631_A->G 17 11725631 11725631 A G snp 265.9 0/1 15 10 1 9 0.9 intronic rs58355168 DNAH9 AU NM_001372 exon47 c.223939-123A>G 0.0607029 0.1637 Uncertain 17_11737899_T->G 17 11737899 11737899 T G snp 352.78 1/1 27 12 0 12 1.0 intronic rs3744584 DNAH9 AU NM_001372 exon49 c.236139-55T>G 0.35643 0.4276 Uncertain 17_11737938_G->A 17 11737938 11737938 G A snp 736.77 1/1 54 20 0 20 1.0 intronic rs3744585 DNAH9 AU NM_001372 exon49 c.236139-16G>A 0.353435 0.4137 0.312548 0.3471 0.4195 Uncertain 17_11737941_C->T 17 11737941 11737941 C T snp 758.77 1/1 57 21 0 21 1.0 intronic rs3744586 DNAH9 AU NM_001372 exon49 c.236139-13C>T 0.353435 0.4137 0.309165 0.3469 0.4203 Uncertain 17_11738314_A->G 17 11738314 11738314 A G snp 50.74 1/1 6 2 0 2 1.0 intronic rs12942631 DNAH9 AU NM_001372 exon49 c.236400+99A>G 0.391174 0.4286 Uncertain 17_11757556_C->G 17 11757556 11757556 C G snp 2034.77 0/1 99 219 131 88 0.4 exonic rs12449553 DNAH9 AU synonymous SNV NM_001372 exon50 c.C9744G p.P3248P 0.403554 0.3403 0.396048 0.4193 0.3732 Uncertain 17_11778577_-->C 17 11778577 11778577 - C indel 2523.73 1/1 99 74 0 74 1.0 intronic rs11396360 DNAH9 AU NM_001372 exon53 c.276686+76insC 0.696685 0.6577 Uncertain 17_11786951_T->C 17 11786951 11786951 T C snp 860.77 0/1 99 88 53 35 0.4 exonic rs8070256 DNAH9 AU synonymous SNV NM_001372 exon56 c.T10855C p.L3619L 0.385982 0.4643 0.406043 0.4528 0.4901 Uncertain 17_11786983_C->T 17 11786983 11786983 C T snp 1111.77 0/1 99 75 28 47 0.63 exonic rs61742982 DNAH9 AU synonymous SNV NM_001372 exon56 c.C10887T p.S3629S 0.0315495 0.0268 0.030986 0.0150 0.0395 Uncertain 17_11787936_A->G 17 11787936 11787936 A G snp 1413.77 0/1 99 127 71 56 0.44 intronic rs11868929 DNAH9 AU NM_001372 exon56 c.285252+869A>G 0.392173 0.4653 0.5026 0.5076 Uncertain 17_11787975_T->C 17 11787975 11787975 T C snp 2642.77 1/1 99 101 0 101 1.0 intronic rs11078042 DNAH9 AU NM_001372 exon56 c.285252+908T>C 0.835064 0.8929 Uncertain 17_11806266_T->C 17 11806266 11806266 T C snp 39.77 0/1 68 4 2 2 0.5 intronic rs3815269 DNAH9 AU NM_001372 exon60 c.304414+37T>C 0.686502 0.6558 0.751807 0.8178 0.6518 Uncertain 17_11827113_C->A 17 11827113 11827113 C A snp 1118.77 0/1 99 118 67 51 0.43 intronic rs28703615 DNAH9 AU NM_001372 exon62 c.325315-17C>A 0.207268 0.2708 0.156159 0.1846 0.2666 Uncertain 17_11827353_T->C 17 11827353 11827353 T C snp 1586.77 1/1 99 53 0 53 1.0 intronic rs2286300 DNAH9 AU NM_001372 exon62 c.325443+95T>C 0.643371 0.6825 Uncertain 17_11833287_A->G 17 11833287 11833287 A G snp 2302.77 0/1 99 208 111 97 0.47 exonic rs2286303 DNAH9 AU synonymous SNV NM_001372 exon63 c.A11982G p.P3994P 0.222444 0.1815 0.257497 0.2897 0.1960 Uncertain 17_11833365_G->A 17 11833365 11833365 G A snp 2582.77 0/1 99 239 125 114 0.48 exonic rs1859887 DNAH9 AU synonymous SNV NM_001372 exon63 c.G12060A p.T4020T 0.221446 0.1796 0.257266 0.2886 0.1964 Uncertain 17_11833473_-->G 17 11833473 11833473 - G indel 2998.73 0/1 99 221 102 119 0.54 intronic rs3217010 DNAH9 AU NM_001372 exon63 c.331595+63insG 0.0267572 0.0427 Uncertain 17_11835304_A->T 17 11835304 11835304 A T snp 532.77 0/1 99 49 24 25 0.51 intronic rs2286304 DNAH9 AU NM_001372 exon64 c.333515-26A>T 0.0101837 0.0417 0.001538 0.0059 0.0594 Uncertain 17_11835331_G->A 17 11835331 11835331 G A snp 571.77 0/1 99 59 32 27 0.46 exonic rs17612861 DNAH9 AU nonsynonymous SNV NM_001372 exon64 c.G12106A p.D4036N 0.210064 0.1806 0.249577 0.2865 0.1968 1.0 P -0.903 T 0.19 T 0.248 T Pathogenic 17_11837161_T->C 17 11837161 11837161 T C snp 301.77 0/1 99 20 8 12 0.6 intronic rs12948962 DNAH9 AU NM_001372 exon65 c.335381-35T>C 0.210863 0.1806 0.250577 0.2890 0.1976 Uncertain 17_11840528_A->C 17 11840528 11840528 A C snp 503.77 1/1 39 15 0 15 1.0 intronic rs2240521 DNAH9 AU NM_001372 exon66 c.338853-140A>C 0.466853 0.4097 Uncertain 17_11865110_G->A 17 11865110 11865110 G A snp 530.77 0/1 99 40 23 17 0.42 intronic rs11656157 DNAH9 AU NM_001372 exon68 c.363368-73G>A 0.173323 0.2163 Uncertain 17_11886542_C->T 17 11886542 11886542 C T snp 210.77 0/1 99 20 10 10 0.5 intronic rs34660389 ZNF18 AU NM_144680 exon2 c.5340-71C>T 0.205471 0.1875 Uncertain 17_11886864_T->C 17 11886864 11886864 T C snp 520.77 1/1 39 17 0 17 1.0 intronic rs17613212 ZNF18 AU NM_144680 exon2 c.5451+140T>C 0.448283 0.4028 Uncertain 17_11887519_A->- 17 11887519 11887519 A - indel 496.73 0/1 99 68 19 49 0.72 splicing rs34299203 ZNF18 AU NM_144680 exon3 c.6241+5delA 0.480431 0.4762 0.4484 0.4486 Pathogenic 17_11894195_C->T 17 11894195 11894195 C T snp 149.77 0/1 99 12 7 5 0.42 intronic rs35075542 ZNF18 AU NM_144680 exon5 c.13017-95C>T 0.204273 0.1835 Uncertain 17_11973133_C->T 17 11973133 11973133 C T snp 884.77 0/1 99 57 23 34 0.6 intronic rs565750970 MAP2K4 AU NM_001281435 exon4 c.60469-11539C>T Uncertain 17_11999147_G->A 17 11999147 11999147 G A snp 206.84 1/1 18 6 0 6 1.0 intronic rs3730339 MAP2K4 AU NM_001281435 exon5 c.74808+136G>A 0.872404 1 Uncertain 17_12619065_G->A 17 12619065 12619065 G A snp 748.77 0/1 99 63 37 26 0.41 intronic rs78710738 MYOCD AU NM_153604 exon3 c.49386+174G>A 0.0483227 0.0962 Uncertain 17_12620761_A->G 17 12620761 12620761 A G snp 2219.77 0/1 99 199 100 99 0.5 intronic rs12944823 MYOCD AU NM_153604 exon4 c.51233+23A>G 0.702676 0.7272 0.750961 0.7388 0.7114 Uncertain 17_12620897_G->A 17 12620897 12620897 G A snp 1092.77 1/1 81 31 0 31 1.0 intronic rs12602716 MYOCD AU NM_153604 exon4 c.51233+159G>A 0.749601 0.8234 Uncertain 17_12647490_T->C 17 12647490 12647490 T C snp 1380.77 0/1 99 114 57 57 0.5 intronic rs12709295 MYOCD AU NM_153604 exon8 c.77994-9T>C 0.755791 0.7173 0.814932 0.8101 0.7453 Uncertain 17_12655789_C->T 17 12655789 12655789 C T snp 3409.77 0/1 99 250 130 120 0.48 exonic MYOCD AU nonsynonymous SNV NM_001146312 exon10 c.C1184T p.T395M 0.21 T 1.000 D -0.772 T 1.0 D 0.996 D Pathogenic 17_12656111_T->C 17 12656111 12656111 T C snp 2123.77 0/1 99 158 72 86 0.54 exonic rs12453883 MYOCD AU synonymous SNV NM_001146312 exon10 c.T1506C p.N502N 0.0617013 0.1905 0.013225 0.0366 0.1917 Uncertain 17_12664170_C->T 17 12664170 12664170 C T snp 582.77 0/1 99 50 26 24 0.48 ncRNA_exonic rs12449924 LOC100128006 AU 0.0632987 0.1677 Uncertain 17_12798396_C->T 17 12798396 12798396 C T snp 759.77 0/1 99 60 31 29 0.48 intronic rs72813190 ARHGAP44 AU NM_014859 exon2 c.105141+100C>T 0.241613 0.3552 Uncertain 17_12799985_G->A 17 12799985 12799985 G A snp 1303.77 0/1 99 97 48 49 0.51 intronic rs2302068 ARHGAP44 AU NM_014859 exon3 c.106673+157G>A 0.490016 0.5179 Uncertain 17_12812343_C->T 17 12812343 12812343 C T snp 822.77 0/1 99 70 34 36 0.51 intronic rs66643297 ARHGAP44 AU NM_014859 exon4 c.119135+53C>T 0.253395 0.3562 0.157468 Uncertain 17_12820421_T->C 17 12820421 12820421 T C snp 481.77 1/1 36 14 0 14 1.0 intronic rs35221864 ARHGAP44 AU NM_014859 exon5 c.126173+1093T>C 0.807708 0.9831 Uncertain 17_12820632_A->C 17 12820632 12820632 A C snp 85.77 0/1 99 8 3 5 0.63 ncRNA_exonic rs12451747 MIR1269B AU 0.394968 0.499 0.75 1 Uncertain 17_12820646_G->C 17 12820646 12820646 G C snp 40.77 0/1 69 6 4 2 0.33 ncRNA_exonic rs7210937 MIR1269B AU 0.352037 0.4554 0.375 0 Uncertain 17_12822892_G->A 17 12822892 12822892 G A snp 62.77 0/1 91 11 8 3 0.27 intronic rs3826375 ARHGAP44 AU NM_014859 exon6 c.129916-179G>A 0.297324 0.4544 Uncertain 17_12822905_A->G 17 12822905 12822905 A G snp 93.77 0/1 99 17 13 4 0.24 intronic rs3826374 ARHGAP44 AU NM_014859 exon6 c.129916-166A>G 0.322684 0.4544 Uncertain 17_12823271_A->G 17 12823271 12823271 A G snp 562.77 0/1 99 35 15 20 0.57 intronic rs56974323 ARHGAP44 AU NM_014859 exon6 c.129993+123A>G 0.323083 0.4544 Uncertain 17_12846708_G->A 17 12846708 12846708 G A snp 332.78 1/1 27 11 0 11 1.0 intronic rs767574 ARHGAP44 AU NM_014859 exon9 c.153749-196G>A 0.719848 0.7232 Uncertain 17_12852224_C->A 17 12852224 12852224 C A snp 56.74 1/1 6 2 0 2 1.0 intronic rs2270051 ARHGAP44 AU NM_014859 exon11 c.159301-232C>A 0.730831 0.751 Uncertain 17_12855719_G->A 17 12855719 12855719 G A snp 964.77 0/1 99 86 46 40 0.47 intronic rs2072253 ARHGAP44 AU NM_014859 exon13 c.162662-98G>A 0.536142 0.6865 Uncertain 17_12856005_A->G 17 12856005 12856005 A G snp 186.77 0/1 99 15 8 7 0.47 intronic rs2072252 ARHGAP44 AU NM_014859 exon13 c.162743+107A>G 0.215455 0.3879 Uncertain 17_12859125_-->G 17 12859125 12859125 - G indel 1432.73 0/1 99 79 31 48 0.61 intronic rs3214256 ARHGAP44 AU NM_014859 exon14 c.166028-58insG 0.256789 0.5119 Uncertain 17_12859149_C->T 17 12859149 12859149 C T snp 1399.77 0/1 99 97 39 58 0.6 intronic rs2190698 ARHGAP44 AU NM_014859 exon14 c.166028-34C>T 0.176518 0.5119 0.074669 0.1496 0.5200 Uncertain 17_12862359_G->A 17 12862359 12862359 G A snp 435.77 0/1 99 32 16 16 0.5 intronic rs9904572 ARHGAP44 AU NM_014859 exon16 c.169059+145G>A 0.430312 0.7034 Uncertain 17_12876431_A->G 17 12876431 12876431 A G snp 228.77 0/1 99 15 7 8 0.53 intronic rs878065 ARHGAP44 AU NM_014859 exon17 c.183463-187A>G 0.147764 0.0962 Uncertain 17_12897293_A->C 17 12897293 12897293 A C snp 438.77 0/1 99 25 12 13 0.52 intronic rs9915058 ELAC2 AR,AU NM_018127 exon2 c.1014+145A>C 0.476637 0.5298 Uncertain 17_12898994_C->G 17 12898994 12898994 C G snp 615.77 1/1 48 17 0 17 1.0 intronic rs2286338 ELAC2 AR,AU NM_018127 exon6 c.2885-25C>G 0.591853 0.5952 0.627519 0.6639 0.6416 Uncertain 17_13399486_-->TT 17 13399486 13399486 - TT indel 229.73 0/1 99 23 11 12 0.52 UTR3 rs200853608 HS3ST3A1 AU 0.407548 0.5446 0.3984 0.4834 Uncertain 17_13399616_A->T 17 13399616 13399616 A T snp 1057.77 0/1 99 249 162 87 0.35 exonic rs62057033 HS3ST3A1 AU synonymous SNV NM_006042 exon2 c.T1119A p.P373P 0.417532 0.5585 0.4086 0.5378 Uncertain 17_13928093_G->A 17 13928093 13928093 G A snp 837.77 0/1 99 141 93 48 0.34 ncRNA_exonic rs62052313 CDRT15P1 AU Uncertain 17_13928124_A->G 17 13928124 13928124 A G snp 1162.77 0/1 99 116 57 59 0.51 ncRNA_exonic rs62052314 CDRT15P1 AU 0.273363 0.4792 Uncertain 17_13972811_G->A 17 13972811 13972811 G A snp 669.77 1/1 51 20 0 20 1.0 UTR5 rs6502330 COX10 AR,AO 0.995607 1 Uncertain 17_13977462_G->A 17 13977462 13977462 G A snp 109.77 0/1 66 6 2 4 0.67 intronic rs11870213 COX10 AR,AO NM_001303 exon2 c.4717-177G>A 0.41853 0.5069 Uncertain 17_13977813_-->TTTA 17 13977813 13977813 - TTTA indel 3682.73 1/1 99 58 0 58 1.0 intronic rs143814384 COX10 AR,AO NM_001303 exon2 c.4851+40insTTTA 0.982827 0.9841 0.988729 0.9894 0.9845 Uncertain 17_13980350_G->A 17 13980350 13980350 G A snp 958.77 0/1 99 101 65 36 0.36 exonic rs2072279 COX10 AR,AO nonsynonymous SNV NM_001303 exon3 c.G476A p.R159Q 0.463858 0.375 0.490389 0.4945 0.3777 0.01 T 1.0 P -0.932 T 0.178 T 0.025 T CLINSIG=non-pathogenic;CLNDBN=not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000124574.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Pathogenic 17_14005373_C->T 17 14005373 14005373 C T snp 1099.77 1/1 78 42 0 42 1.0 intronic rs1017076 COX10 AR,AO NM_001303 exon4 c.32512-61C>T 0.969249 1 Uncertain 17_14063389_G->T 17 14063389 14063389 G T snp 524.77 1/1 39 18 0 18 1.0 intronic rs7212977 COX10 AR,AO NM_001303 exon5 c.90342+125G>T 0.99401 1 Uncertain 17_14063394_A->C 17 14063394 14063394 A C snp 360.77 0/1 51 16 3 13 0.81 intronic rs78809149 COX10 AR,AO NM_001303 exon5 c.90342+130A>C 0.172724 0.1488 Uncertain 17_14095309_A->G 17 14095309 14095309 A G snp 1184.77 0/1 99 140 83 57 0.41 exonic rs2230354 COX10 AR,AO synonymous SNV NM_001303 exon6 c.A699G p.P233P 0.548323 0.619 0.553437 0.5850 0.6026 CLINSIG=non-pathogenic;CLNDBN=not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000124560.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Uncertain 17_14095550_G->A 17 14095550 14095550 G A snp 932.77 0/1 99 250 193 57 0.23 intronic rs200573622 COX10 AR,AO NM_001303 exon6 c.122616+12G>A 0.146702 0.1871 0.1521 CLINSIG=non-pathogenic;CLNDBN=not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000124563.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Uncertain 17_14095566_T->C 17 14095566 14095566 T C snp 1120.77 0/1 99 250 180 70 0.28 intronic rs151441 COX10 AR,AO NM_001303 exon6 c.122616+28T>C 0.2681 0.3078 Uncertain 17_14095639_A->G 17 14095639 14095639 A G snp 1147.77 0/1 99 245 188 57 0.23 intronic rs373313742 COX10 AR,AO NM_001303 exon6 c.122616+101A>G Uncertain 17_14095682_T->C 17 14095682 14095682 T C snp 1684.77 0/1 99 153 75 78 0.51 intronic rs2158978 COX10 AR,AO NM_001303 exon6 c.122616+144T>C 0.553914 0.619 Uncertain 17_14110041_G->A 17 14110041 14110041 G A snp 568.77 0/1 99 52 27 25 0.48 intronic rs4792446 COX10 AR,AO NM_001303 exon7 c.137204-85G>A 0.229633 0.4077 Uncertain 17_14139414_C->G 17 14139414 14139414 C G snp 311.77 0/1 99 29 14 15 0.52 intronic rs146117581 CDRT15 AU NM_001007530 exon1 c.156+86C>G Uncertain 17_14139565_T->C 17 14139565 14139565 T C snp 272.8 1/1 21 10 0 10 1.0 intronic rs4791563 CDRT15 AU NM_001007530 exon2 c.426-33T>C 0.6308 0.6176 Uncertain 17_14139774_C->A 17 14139774 14139774 C A snp 939.77 1/1 75 45 0 45 1.0 intronic rs4791564 CDRT15 AU NM_001007530 exon2 c.575+27C>A 0.990815 1 0.9944 1 Uncertain 17_14139891_A->C 17 14139891 14139891 A C snp 1345.77 1/1 99 77 0 77 1.0 exonic rs4791565 CDRT15 AU nonsynonymous SNV NM_001007530 exon1 c.T260G p.L87R 0.96905 0.9405 0.9739 0.9174 0.35 T 0.0 P -0.994 T 0.0 T 0.0 T Pathogenic 17_14140103_A->G 17 14140103 14140103 A G snp 291.78 1/1 24 13 0 13 1.0 exonic rs4792453 CDRT15 AU synonymous SNV NM_001007530 exon1 c.T48C p.N16N 0.991014 1 0.988055 0.9966 1 Uncertain 17_14248423_T->C 17 14248423 14248423 T C snp 4497.77 1/1 99 186 0 186 1.0 exonic rs9906855 HS3ST3B1 AU synonymous SNV NM_006041 exon2 c.T633C p.P211P 0.5707 0.5476 Uncertain 17_14673431_C->A 17 14673431 14673431 C A snp 785.77 0/1 99 59 26 33 0.56 intergenic rs72815721 HS3ST3B1 AU 0.291733 0.37 0.320631 Uncertain 17_14673667_T->C 17 14673667 14673667 T C snp 1302.77 0/1 99 102 50 52 0.51 intergenic rs142442473 HS3ST3B1 AU 0.00419329 0.0198 Uncertain 17_14683545_G->A 17 14683545 14683545 G A snp 124.77 0/1 99 10 4 6 0.6 intergenic rs62060073 HS3ST3B1 AU 0.196086 0.2411 Uncertain 17_15134175_T->G 17 15134175 15134175 T G snp 2332.77 1/1 99 81 0 81 1.0 UTR3 rs13422 PMP22 AR,AD,AO 0.595447 0.6012 0.5351 0.6140 Uncertain 17_15143011_A->G 17 15143011 15143011 A G snp 176.9 1/1 15 5 0 5 1.0 intronic rs230950 PMP22 AR,AD,AO NM_001281455 exon2 c.8695+83A>G 0.596645 0.5883 Uncertain 17_15154966_T->A 17 15154966 15154966 T A snp 1029.77 1/1 75 35 0 35 1.0 ncRNA_exonic rs66507245 MIR4731 AU 0.43131 0.4563 0 . Uncertain 17_15162389_T->C 17 15162389 15162389 T C snp 1526.77 1/1 99 51 0 51 1.0 intronic rs231020 PMP22 AR,AD,AO NM_001281455 exon3 c.28177-21T>C 0.610423 0.5992 0.605105 0.5502 0.6037 Uncertain 17_15207364_T->G 17 15207364 15207364 T G snp 1204.77 0/1 99 121 70 51 0.42 exonic rs13961 TEKT3 AU synonymous SNV NM_031898 exon9 c.A1362C p.T454T 0.786741 0.7232 0.786637 0.7737 0.6867 Uncertain 17_15217389_G->A 17 15217389 15217389 G A snp 1476.77 0/1 99 107 52 55 0.51 intronic rs230897 TEKT3 AU NM_031898 exon4 c.10151-14G>A 0.535743 0.6081 0.499692 0.4952 0.5809 Uncertain 17_15217437_C->G 17 15217437 15217437 C G snp 2797.77 0/1 99 212 86 126 0.59 exonic rs230898 TEKT3 AU nonsynonymous SNV NM_031898 exon6 c.G845C p.G282A 0.427516 0.4732 0.428571 0.4566 0.4340 0.61 T 0.872 P -0.938 T 0.001 T 0.004 T Pathogenic 17_15222535_-->A 17 15222535 15222535 - A indel 514.73 1/1 42 15 0 15 1.0 intronic rs11387328 TEKT3 AU NM_031898 exon5 c.15212+71insA 0.68111 0.7431 Uncertain 17_15231266_A->G 17 15231266 15231266 A G snp 2608.77 0/1 99 250 135 115 0.46 intronic rs230901 TEKT3 AU NM_031898 exon6 c.24056-42A>G 0.132788 0.244 0.085345 0.1203 0.2198 Uncertain 17_15234232_G->A 17 15234232 15234232 G A snp 397.77 0/1 99 31 16 15 0.48 intronic rs2305959 TEKT3 AU NM_031898 exon7 c.27071-91G>A 0.195088 0.2202 Uncertain 17_15234895_C->T 17 15234895 15234895 C T snp 1031.77 0/1 99 88 40 48 0.55 exonic rs7226363 TEKT3 AU nonsynonymous SNV NM_031898 exon3 c.G8A p.R3H 0.195088 0.2212 0.213209 0.2204 0.2667 0.18 T 0.0 P -1.052 T 0.208 T 0.009 T Pathogenic 17_15341022_T->G 17 15341022 15341022 T G snp 1298.77 0/1 99 89 41 48 0.54 UTR3 rs2954757 CDRT4 AU 0.370407 0.499 Uncertain 17_15341023_T->C 17 15341023 15341023 T C snp 1267.77 0/1 99 94 46 48 0.51 UTR3 rs76787574 CDRT4 AU 0.370407 0.499 Uncertain 17_15341183_A->C 17 15341183 15341183 A C snp 2188.77 0/1 99 208 119 89 0.43 exonic rs2954759 CDRT4 AU nonsynonymous SNV NM_001204477 exon4 c.T366G p.H122Q 0.320088 0.4583 0.180686 0.1978 0.4933 0.31 T 0.0 P -0.940 T 0.001 T 0.003 T Pathogenic 17_15342305_G->A 17 15342305 15342305 G A snp 560.77 0/1 99 55 32 23 0.42 intronic rs2906988 CDRT4 AU NM_001204477 exon1 c.431+785G>A 0.158546 0.379 Uncertain 17_15342591_A->- 17 15342591 15342591 A - indel 745.73 0/1 99 48 8 40 0.83 intronic rs10707095 CDRT4 AU NM_001204477 exon2 c.2435-933delA Uncertain 17_15342606_G->A 17 15342606 15342606 G A snp 718.77 0/1 99 39 9 30 0.77 intronic rs2906987 CDRT4 AU NM_001204477 exon2 c.2435-918G>A 0.355032 0.499 Uncertain 17_15342653_C->T 17 15342653 15342653 C T snp 397.77 0/1 73 15 3 12 0.8 intronic rs2954761 CDRT4 AU NM_001204477 exon2 c.2435-871C>T 0.324081 0.4563 Uncertain 17_15343524_-->CTT 17 15343524 15343524 - CTT indel 5191.73 1/1 99 92 0 92 1.0 splicing rs397729402 CDRT4 AU NM_001204477 exon2 c.2435insCTT 0.970447 1 0.969409 0.9910 1 Pathogenic 17_15343740_T->C 17 15343740 15343740 T C snp 185.77 0/1 99 19 11 8 0.42 intronic rs2954764 CDRT4 AU NM_001204477 exon2 c.2510+141T>C 0.33766 0.4563 Uncertain 17_15443734_A->G 17 15443734 15443734 A G snp 1685.77 1/1 99 121 45 76 0.63 exonic rs200768112 TVP23C AU nonsynonymous SNV NM_001135036 exon6 c.T604C p.W202R 0.428315 0.5308 0.3881 0.5502 0.04 T 1.000 P -0.941 T 0.078 T 0.037 T Pathogenic 17_15443742_C->G 17 15443742 15443742 C G snp 1991.77 1/1 99 129 44 85 0.66 exonic rs138309602 TVP23C AU nonsynonymous SNV NM_001135036 exon6 c.G596C p.S199T 0.428315 0.5308 0.3847 0.5474 0.56 T 1.000 P -0.960 T 0.058 T 0.069 T Pathogenic 17_15457054_A->G 17 15457054 15457054 A G snp 1340.77 0/1 99 145 83 62 0.43 exonic rs143992471 TVP23C AU nonsynonymous SNV NM_001135036 exon3 c.T185C p.I62T 0.00778754 0.0387 0.000154 0.0029 0.0385 0.09 T 1 D -0.914 T 0.998 D 0.982 D Pathogenic 17_15458722_T->C 17 15458722 15458722 T C snp 4377.77 1/1 99 151 0 151 1.0 intronic rs148282820 TVP23C AU NM_001135036 exon5 c.14953+44T>C 0.289537 0.5119 0.213517 0.2848 0.5163 Uncertain 17_15469278_C->G 17 15469278 15469278 C G snp 1015.77 1/1 99 220 0 220 1.0 UTR3 rs201538928 CDRT1 AU 0.376797 0.4444 0.0502 0.1197 0.77 T 1.000 P -0.786 T Uncertain 17_15469661_G->A 17 15469661 15469661 G A snp 466.77 1/1 45 33 0 33 1.0 UTR3 rs199530718 CDRT1 AU 0.104832 0.1319 Uncertain 17_15477358_C->G 17 15477358 15477358 C G snp 1341.77 1/1 99 47 0 47 1.0 intronic rs236801 CDRT1 AU NM_001282540 exon2 c.139+5014C>G 0.189097 0.4444 Uncertain 17_15477417_A->G 17 15477417 15477417 A G snp 1978.77 1/1 99 75 0 75 1.0 intronic rs28420774 CDRT1 AU NM_001282540 exon2 c.139+5073A>G 0.48762 0.5476 0.3288 0.5082 0.000 P -1.004 T Uncertain 17_15492110_C->T 17 15492110 15492110 C T snp 1077.77 1/1 81 33 0 33 1.0 UTR3 rs151443 CDRT1 AU 0.996006 1 Uncertain 17_15492409_T->C 17 15492409 15492409 T C snp 1653.77 1/1 99 89 0 89 1.0 exonic rs151442 CDRT1 AU synonymous SNV NM_006382 exon12 c.A2139G p.A713A 0.99381 1 0.9932 0.9985 Uncertain 17_15492410_G->A 17 15492410 15492410 G A snp 442.77 0/1 99 87 59 28 0.32 exonic rs76213106 CDRT1 AU nonsynonymous SNV NM_006382 exon12 c.C2138T p.A713V 0.160743 0.1468 0.0934 0.0558 0.53 T 0.0 P -1.098 T 0.002 T 0.001 T Pathogenic 17_15492426_C->T 17 15492426 15492426 C T snp 2280.77 1/1 99 109 24 85 0.78 exonic rs28445278 CDRT1 AU nonsynonymous SNV NM_006382 exon12 c.G2122A p.V708M 0.673323 0.5972 0.5065 0.4632 0.25 T 0.0 P -0.952 T 0.438 T 0.016 T Pathogenic 17_15499737_A->G 17 15499737 15499737 A G snp 85.77 0/1 99 19 15 4 0.21 intronic rs762697 CDRT1 AU NM_006382 exon4 c.7539-90A>G 0.604633 0.5863 Uncertain 17_15499802_G->A 17 15499802 15499802 G A snp 749.77 0/1 99 93 47 46 0.49 intronic rs374886509 CDRT1 AU NM_006382 exon4 c.7539-25G>A 0.00159744 0.0079 0.000078 0.0011 0.0141 Uncertain 17_15500032_A->- 17 15500032 15500032 A - indel 1191.73 0/1 99 66 24 42 0.64 intronic rs3217025 CDRT1 AU NM_006382 exon4 c.7688+56delA 0.228834 0.1964 Uncertain 17_15516147_C->A 17 15516147 15516147 C A snp 623.77 0/1 99 87 46 41 0.47 intronic rs377185946 CDRT1 AU NM_006382 exon8 c.23849+10C>A 0.0385383 0.1042 0.0140 0.1043 Uncertain 17_15516157_C->A 17 15516157 15516157 C A snp 441.77 0/1 99 68 41 27 0.4 intronic rs201310265 CDRT1 AU NM_006382 exon8 c.23849+20C>A 0.150559 0.1319 0.008853 0.0603 0.1349 Uncertain 17_15604395_T->C 17 15604395 15604395 T C snp 547.77 0/1 99 49 27 22 0.45 intronic rs77257979 ZNF286A AU NM_001130842 exon3 c.822-70T>C 0.617612 0.6508 Uncertain 17_15604396_G->A 17 15604396 15604396 G A snp 544.77 0/1 99 50 28 22 0.44 intronic rs4792654 ZNF286A AU NM_001130842 exon3 c.822-69G>A 0.525359 0.6419 Uncertain 17_15604444_A->G 17 15604444 15604444 A G snp 991.77 0/1 99 100 55 45 0.45 intronic rs4792655 ZNF286A AU NM_001130842 exon3 c.822-21A>G 0.494849 0.5122 0.6371 Uncertain 17_15607777_A->G 17 15607777 15607777 A G snp 68.77 0/1 97 8 4 4 0.5 intronic rs62071718 ZNF286A AU NM_001130842 exon4 c.6057-1923A>G 0.399561 0.4762 Uncertain 17_15611495_T->C 17 15611495 15611495 T C snp 1179.77 0/1 99 125 71 54 0.43 exonic rs3760299 ZNF286A AU nonsynonymous SNV NM_001288644 exon3 c.T175C p.Y59H 0.508187 0.626 0.432185 0.4247 0.6348 0.03 T 0.001 P -1.062 T 0.001 T 0.001 T Pathogenic 17_15620647_G->A 17 15620647 15620647 G A snp 450.77 0/1 99 99 74 25 0.25 UTR3 rs61435333 ZNF286A AU 0.82528 0.7956 0.4475 0.5109 Uncertain 17_15639007_C->T 17 15639007 15639007 C T snp 48.77 0/1 77 226 126 100 0.44 intronic rs201255243 TBC1D26 AU NM_178571 exon4 c.331+14C>T 0.4163 0.4942 Uncertain 17_15640815_A->G 17 15640815 15640815 A G snp 226.77 0/1 99 49 17 32 0.65 exonic rs201215351 TBC1D26 AU nonsynonymous SNV NM_178571 exon5 c.A176G p.H59R 0.447085 0.4454 0.0404 0.0372 0.5 T 0.0 P -1.029 T 0.0 T 0.0 T Pathogenic 17_15641540_G->C 17 15641540 15641540 G C snp 589.77 0/1 99 56 33 23 0.41 intronic rs201334897 TBC1D26 AU NM_178571 exon7 c.2931-53G>C Uncertain 17_15643382_A->- 17 15643382 15643382 A - indel 1786.73 0/1 99 143 68 75 0.52 intronic rs58354673 TBC1D26 AU NM_178571 exon9 c.4751-31delA 0.4230 0.4185 Uncertain 17_15644506_C->T 17 15644506 15644506 C T snp 1621.77 0/1 99 115 45 70 0.61 exonic rs11650318 TBC1D26 AU nonsynonymous SNV NM_178571 exon10 c.C617T p.A206V 0.246605 0.255 0.309112 0.3445 0.2622 Pathogenic 17_15645289_G->A 17 15645289 15645289 G A snp 772.77 0/1 99 80 44 36 0.45 exonic rs17855672 TBC1D26 AU nonsynonymous SNV NM_178571 exon11 c.G700A p.G234S 0.246206 0.254 0.309328 0.3445 0.2618 Pathogenic 17_15668330_G->C 17 15668330 15668330 G C snp 1156.77 0/1 99 86 40 46 0.53 ncRNA_intronic rs2955833 CDRT15P2 AU 0.603035 0.5853 Uncertain 17_15668720_C->G 17 15668720 15668720 C G snp 404.77 0/1 99 47 28 19 0.4 ncRNA_intronic rs935147 CDRT15P2 AU 0.601438 0.5883 Uncertain 17_15668775_A->G 17 15668775 15668775 A G snp 949.77 0/1 99 71 35 36 0.51 ncRNA_intronic rs1814454 CDRT15P2 AU 0.602835 0.5893 Uncertain 17_15690211_C->- 17 15690211 15690211 C - indel 500.73 1/1 42 15 0 15 1.0 ncRNA_exonic rs376068178 MEIS3P1 AU 0.9998 1 0 . Uncertain 17_15690220_C->T 17 15690220 15690220 C T snp 376.77 0/1 99 44 17 27 0.61 ncRNA_exonic rs62070981 MEIS3P1 AU 0.172524 0.1885 0.0429 0 Uncertain 17_15690281_C->T 17 15690281 15690281 C T snp 2698.77 1/1 99 116 0 116 1.0 ncRNA_exonic rs62070982 MEIS3P1 AU 0.497804 0.5367 0.5074 0.5669 Uncertain 17_15690295_CTT->- 17 15690295 15690297 CTT - indel 2293.73 0/1 99 107 61 46 0.43 ncRNA_exonic rs200526826 MEIS3P1 AU 0.152756 0.1687 0.1478 0.1559 ID=COSN228792;OCCURENCE=1(skin) Uncertain 17_15690793_T->C 17 15690793 15690793 T C snp 5789.77 1/1 99 210 0 210 1.0 ncRNA_exonic rs534861 MEIS3P1 AU 0.538339 0.5556 0.4434 0.5926 Uncertain 17_15690888_C->G 17 15690888 15690888 C G snp 2151.77 0/1 99 222 122 100 0.45 ncRNA_exonic rs4791638 MEIS3P1 AU 0.171326 0.1895 0.2235 0.2090 Uncertain 17_15690928_G->C 17 15690928 15690928 G C snp 1945.77 0/1 99 157 79 78 0.5 ncRNA_exonic rs533242 MEIS3P1 AU 0.151558 0.1706 0.1295 0.1733 Uncertain 17_15691119_C->A 17 15691119 15691119 C A snp 133.77 0/1 99 19 13 6 0.32 ncRNA_exonic rs1054119 MEIS3P1 AU 0.173922 0.1885 Uncertain 17_16052606_-->AT 17 16052606 16052606 - AT indel 265.14 0/1 10 10 2 8 0.8 intronic rs71299857 NCOR1 AU NM_006311 exon38 c.117155-158insAT Uncertain 17_16221271_-->C 17 16221271 16221271 - C indel 823.73 1/1 69 27 0 27 1.0 intronic rs397934001 PIGL AR NM_004278 exon6 c.100682+49insC 0.972644 0.9484 0.991214 0.9813 0.9420 Uncertain 17_16251859_A->G 17 16251859 16251859 A G snp 2007.77 1/1 99 67 0 67 1.0 intronic rs2286666 CENPV AU NM_181716 exon3 c.5799-70A>G 0.936701 0.9454 Uncertain 17_16256240_C->A 17 16256240 16256240 C A snp 503.77 1/1 39 17 0 17 1.0 intronic rs3095172 CENPV AU NM_181716 exon5 c.10210-100C>A 0.839856 0.9236 Uncertain 17_16256686_-->CGGAGGCCC 17 16256686 16256686 - CGGAGGCCC indel 1315.73 1/1 36 18 0 18 1.0 exonic rs539910742 CENPV AU nonframeshift insertion NM_181716 exon1 c.64_65insGGGCCTCCG p.A22delinsGASA 0.533746 0.8006 0.268166 0.3125 0 Uncertain 17_16326807_C->T 17 16326807 16326807 C T snp 1923.77 0/1 99 144 70 74 0.51 exonic rs776422024 TRPV2 AU nonsynonymous SNV NM_016113 exon5 c.C650T p.A217V 1.712e-05 0.0002 0.03 T 1 D -0.635 T 0.961 D 0.545 D Pathogenic 17_16527795_C->A 17 16527795 16527795 C A snp 1217.77 0/1 99 113 59 54 0.48 exonic rs8065506 ZNF624 AU nonsynonymous SNV NM_020787 exon6 c.G405T p.K135N 0.487819 0.5347 0.397893 0.3637 0.5675 0.51 T 0.0 P -1.063 T 0.0 T 0.0 T ID=CM067489;DIS=Lung cancer, susceptibility to, association with;TAG=DP;PUB=16741161 DP Pathogenic 17_16537373_A->- 17 16537373 16537373 A - indel 1285.73 0/1 99 86 50 36 0.42 intronic rs60858649 ZNF624 AU NM_020787 exon2 c.11670+102delA 0.174121 0.3333 Uncertain 17_16537397_T->C 17 16537397 16537397 T C snp 573.77 0/1 99 59 36 23 0.39 intronic rs9911677 ZNF624 AU NM_020787 exon2 c.11670+126T>C 0.38139 0.369 Uncertain 17_16538181_C->T 17 16538181 16538181 C T snp 40.77 0/1 69 5 3 2 0.4 intronic rs8075988 ZNF624 AU NM_020787 exon3 c.12469+111C>T 0.2502 0.3333 Uncertain 17_16550817_C->T 17 16550817 16550817 C T snp 948.77 0/1 99 71 33 38 0.54 intronic rs7218241 ZNF624 AU NM_020787 exon4 c.25107+109C>T 0.247204 0.3333 Uncertain 17_16552913_C->A 17 16552913 16552913 C A snp 170.77 0/1 99 24 15 9 0.38 intronic rs28626982 ZNF624 AU NM_020787 exon5 c.27370-58C>A 0.251797 0.3333 Uncertain 17_16624049_T->C 17 16624049 16624049 T C snp 797.77 0/1 99 153 112 41 0.27 intronic CCDC144A AU NM_014695 exon8 c.30258+77T>C Uncertain 17_16624102_A->G 17 16624102 16624102 A G snp 177.77 0/1 99 25 14 11 0.44 intronic CCDC144A AU NM_014695 exon8 c.30258+130A>G Uncertain 17_16734809_A->G 17 16734809 16734809 A G snp 847.77 1/1 66 50 0 50 1.0 ncRNA_exonic rs2688010 KRT16P2 AU 0.941094 1 0.6205 0.9939 Uncertain 17_16734869_A->G 17 16734869 16734869 A G snp 628.77 1/1 48 36 0 36 1.0 ncRNA_exonic rs2688009 KRT16P2 AU 0.9072 0.9995 Uncertain 17_16734971_A->T 17 16734971 16734971 A T snp 68.28 1/1 9 7 0 7 1.0 ncRNA_intronic rs2688008 KRT16P2 AU 0.832867 0.9325 0.7422 0.8442 Uncertain 17_16836425_G->A 17 16836425 16836425 G A snp 2265.77 0/1 99 215 117 98 0.46 intergenic rs3751987 KRT16P2 AU 0.389577 0.4921 0.4154 0.4924 0.01 T 0.0 P -1.103 T Uncertain 17_16842912_A->G 17 16842912 16842912 A G snp 3696.77 1/1 99 146 0 146 1.0 exonic rs11078355 TNFRSF13B AR,AD,AU synonymous SNV NM_012452 exon5 c.T831C p.S277S 0.595248 0.7976 0.479006 0.4943 0.7921 Uncertain 17_16842991_G->A 17 16842991 16842991 G A snp 1096.77 0/1 99 97 49 48 0.49 exonic rs34562254 TNFRSF13B AR,AD,AU nonsynonymous SNV NM_012452 exon5 c.C752T p.P251L 0.190695 0.4236 0.117946 0.1418 0.3985 1 T 0.0 P -0.915 T 0.728 T 0.476 P Pathogenic 17_16843197_C->T 17 16843197 16843197 C T snp 187.77 0/1 99 12 4 8 0.67 intronic rs56936345 TNFRSF13B AR,AD,AU NM_012452 exon1 c.251+86C>T 0.0209665 0.0625 Uncertain 17_16843874_G->A 17 16843874 16843874 G A snp 1621.77 0/1 99 153 80 73 0.48 intronic rs56223325 TNFRSF13B AR,AD,AU NM_012452 exon2 c.965+49G>A 0.0469249 0.0645 0.021635 0.0321 0.0806 Uncertain 17_16843992_G->A 17 16843992 16843992 G A snp 40.77 0/1 69 14 11 3 0.21 intronic rs17793572 TNFRSF13B AR,AD,AU NM_012452 exon2 c.965+167G>A 0.159345 0.0655 Uncertain 17_16844863_C->A 17 16844863 16844863 C A snp 687.77 0/1 99 62 37 25 0.4 intronic rs11654431 TNFRSF13B AR,AD,AU NM_012452 exon2 c.965+1038C>A 0.159345 0.0655 Uncertain 17_16844876_G->A 17 16844876 16844876 G A snp 462.77 0/1 99 45 26 19 0.42 intronic rs58928848 TNFRSF13B AR,AD,AU NM_012452 exon2 c.965+1051G>A 0.159145 0.0655 Uncertain 17_16852027_T->G 17 16852027 16852027 T G snp 456.77 0/1 99 26 11 15 0.58 intronic rs2274892 TNFRSF13B AR,AD,AU NM_012452 exon3 c.9191-24T>G 0.40635 0.6538 0.355759 0.3886 0.6526 Uncertain 17_16855878_C->T 17 16855878 16855878 C T snp 4132.77 1/1 99 166 0 166 1.0 exonic rs8072293 TNFRSF13B AR,AD,AU synonymous SNV NM_012452 exon2 c.G81A p.T27T 0.899561 0.999 0.809626 0.8112 0.9993 CLINSIG=non-pathogenic;CLNDBN=Common_variable_immunodeficiency_2;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000030561.1;CLNDSDB=MedGen:OMIM:Orphanet;CLNDSDBID=C3150354:240500:ORPHA1572 Uncertain 17_16946343_G->C 17 16946343 16946343 G C snp 1434.77 1/1 99 54 1 53 0.98 intronic rs61242604 MPRIP AU NM_201274 exon1 c.123+58G>C 0.451677 0.7282 Uncertain 17_17035036_A->G 17 17035036 17035036 A G snp 2329.77 1/1 99 81 0 81 1.0 intronic rs2271520 MPRIP AU NM_201274 exon5 c.88853+21A>G 0.874002 0.994 0.815008 0.8445 0.9973 Uncertain 17_17039562_CAG->- 17 17039562 17039564 CAG - indel 2686.73 1/1 99 97 0 97 1.0 exonic rs113250356 MPRIP AU nonframeshift deletion NM_015134 exon6 c.534_536del p.178_179del 0.6827 0.8337 ID=COSM249625;OCCURENCE=1(kidney),1(urinary_tract),1(biliary_tract),1(breast),2(endometrium),1(ovary),1(haematopoietic_and_lymphoid_tissue) Uncertain 17_17046024_C->A 17 17046024 17046024 C A snp 434.77 1/1 33 20 0 20 1.0 exonic rs3744137 MPRIP AU nonsynonymous SNV NM_015134 exon8 c.C980A p.P327Q 0.444688 0.7113 0.396279 0.5060 0.6762 0.25 T 0.0 P -0.989 T 0.018 T 0.011 T Pathogenic 17_17046736_T->G 17 17046736 17046736 T G snp 807.77 1/1 60 25 0 25 1.0 intronic rs6502563 MPRIP AU NM_201274 exon9 c.100707-133T>G 0.873203 0.994 Uncertain 17_17050573_G->A 17 17050573 17050573 G A snp 3143.77 1/1 99 115 0 115 1.0 intronic rs3744134 MPRIP AU NM_201274 exon11 c.104470-59G>A 0.497204 0.7153 0.501752 Uncertain 17_17062241_C->G 17 17062241 17062241 C G snp 1137.77 1/1 84 38 0 38 1.0 exonic rs11551189 MPRIP AU synonymous SNV NM_015134 exon14 c.C1971G p.A657A 0.453075 0.7113 0.404824 0.5233 0.6763 1.000 P -0.963 T Likely benign 17_17064775_-->C 17 17064775 17064775 - C indel 4283.73 1/1 99 96 0 96 1.0 intronic rs5819603 MPRIP AU NM_201274 exon15 c.118508+105insC 0.816294 0.9921 Uncertain 17_17069105_G->A 17 17069105 17069105 G A snp 7993.77 1/1 99 250 0 250 1.0 intronic rs3744131 MPRIP AU NM_201274 exon15 c.118508+4435G>A 0.504593 0.7113 0.6035 0.7003 1.000 P -0.980 T Uncertain 17_17070856_G->A 17 17070856 17070856 G A snp 2342.77 0/1 99 170 70 100 0.59 intronic rs3744128 MPRIP AU NM_201274 exon16 c.128869-4175G>A 0.0163738 0.0556 0.0039 0.0597 0.536 N -0.960 T Uncertain 17_17075318_A->G 17 17075318 17075318 A G snp 704.77 1/1 51 23 0 23 1.0 intronic rs2292530 MPRIP AU NM_201274 exon16 c.129017+139A>G 0.445288 0.7113 Uncertain 17_17087880_T->G 17 17087880 17087880 T G snp 90.28 1/1 9 3 0 3 1.0 intronic rs4985741 MPRIP AU NM_201274 exon24 c.141974-256T>G 0.504792 0.7113 Uncertain 17_17120668_G->C 17 17120668 17120668 G C snp 345.78 1/1 27 10 0 10 1.0 intronic rs4985705 FLCN AU,AD NM_144997 exon5 c.3528+172G>C 0.531949 0.6974 Uncertain 17_17122286_C->T 17 17122286 17122286 C T snp 374.77 1/1 30 11 0 11 1.0 intronic rs8065572 FLCN AU,AD NM_144997 exon6 c.5364-46C>T 0.995807 1 0.998308 0.9937 0.9999 Uncertain 17_17122327_G->A 17 17122327 17122327 G A snp 892.77 1/1 66 31 0 31 1.0 splicing rs8065832 FLCN AU,AD NM_144997 exon6 c.5364-5G>A 0.502995 0.6974 0.449100 0.5023 0.6547 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_multiple_submitters\x2c_no_conflicts;CLNACC=RCV000082618.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 ID=CS033516;DIS=Colorectal cancer, reduced risk, association;TAG=DP;PUB=14627671 DP Pathogenic 17_17127471_G->A 17 17127471 17127471 G A snp 1535.77 1/1 99 44 0 44 1.0 intronic rs1736219 FLCN AU,AD NM_144606 exon3 c.2765+14G>A 0.405152 0.6954 0.373807 0.4841 0.6861 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_multiple_submitters\x2c_no_conflicts;CLNACC=RCV000082638.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 17_17165136_C->A 17 17165136 17165136 C A snp 1095.77 1/1 78 41 0 41 1.0 intronic rs1736210 COPS3 AU NM_003653 exon6 c.14868-143C>A 0.403155 0.6558 Uncertain 17_17168164_G->A 17 17168164 17168164 G A snp 1736.77 1/1 90 74 2 72 0.97 exonic rs3182911 COPS3 AU synonymous SNV NM_001199125 exon6 c.C513T p.I171I 0.486222 0.6558 0.440412 0.4980 0.6179 Uncertain 17_17179299_C->G 17 17179299 17179299 C G snp 805.77 1/1 60 24 0 24 1.0 intronic rs4985760 COPS3 AU NM_003653 exon11 c.28937-49C>G 0.751398 0.8462 0.697755 0.7032 0.8551 Uncertain 17_17179481_G->A 17 17179481 17179481 G A snp 4225.77 1/1 99 161 0 161 1.0 splicing rs4985761 COPS3 AU NM_003653 exon11 c.29067+3G>A 0.400559 0.6548 0.378748 0.4708 0.6179 Pathogenic 17_17184033_G->T 17 17184033 17184033 G T snp 187.9 1/1 15 7 0 7 1.0 intronic rs3853545 COPS3 AU NM_001199125 exon12 c.33601+21G>T 0.400759 0.6528 0.3988 0.6389 Uncertain 17_17184080_G->C 17 17184080 17184080 G C snp 139.03 1/1 12 4 0 4 1.0 intronic rs1029829 COPS3 AU NM_001199125 exon12 c.33601+68G>C 0.402556 0.6528 Uncertain 17_17184097_C->A 17 17184097 17184097 C A snp 92.28 1/1 9 3 0 3 1.0 intronic rs1029830 COPS3 AU NM_001199125 exon12 c.33601+85C>A 0.525559 0.6538 Uncertain 17_17184399_A->C 17 17184399 17184399 A C snp 4776.77 1/1 99 183 2 181 0.99 intronic rs2012954 COPS3 AU NM_003653 exon12 c.34034-46A>C 0.749201 0.8442 0.695830 0.7081 0.8567 Uncertain 17_17250159_C->T 17 17250159 17250159 C T snp 793.77 0/1 99 80 45 35 0.44 exonic rs2240876 NT5M AU synonymous SNV NM_020201 exon5 c.C585T p.T195T 0.133586 0.376 0.043365 0.1027 0.3675 0.02 T 0.005 P -1.008 T 0.017 T 0.004 T Likely benign 17_17394611_G->A 17 17394611 17394611 G A snp 400.77 0/1 99 35 20 15 0.43 exonic rs1242489 MED9 AU synonymous SNV NM_018019 exon2 c.G243A p.P81P 0.159944 0.1409 0.225973 0.2500 0.1609 Uncertain 17_17409401_G->A 17 17409401 17409401 G A snp 1250.77 1/1 93 36 0 36 1.0 intronic rs3816511 PEMT AU NM_007169 exon2 c.436-139G>A 0.398363 0.2093 Uncertain 17_17409560_C->T 17 17409560 17409560 C T snp 1566.77 0/1 99 130 69 61 0.47 exonic rs7946 PEMT AU nonsynonymous SNV NM_007169 exon6 c.G523A p.V175M 0.424521 0.1716 0.615474 0.6375 0.3336 0.55 T 0.0 P -0.971 T 0.004 T 0.009 T ID=CM054062;DIS=Non-alcoholic fatty liver disease, association with;TAG=DFP;PUB=16051693 DFP Pathogenic 17_17409709_T->A 17 17409709 17409709 T A snp 589.77 0/1 99 32 13 19 0.59 intronic rs1918249 PEMT AU NM_007169 exon2 c.511+94T>A 0.447085 0.1736 Uncertain 17_17412032_G->C 17 17412032 17412032 G C snp 1925.77 0/1 99 165 80 85 0.52 intronic rs4646407 PEMT AU NM_007169 exon3 c.3643-715G>C 0.759185 0.5188 Uncertain 17_17425517_A->G 17 17425517 17425517 A G snp 198.77 0/1 99 17 10 7 0.41 intronic rs3744120 PEMT AU NM_007169 exon5 c.16489-76A>G 0.072484 0.1994 Uncertain 17_17682484_G->A 17 17682484 17682484 G A snp 1936.77 1/1 99 67 0 67 1.0 ncRNA_exonic rs1006656 SMCR5 AU 0.901558 0.9921 Uncertain 17_17696531_G->C 17 17696531 17696531 G C snp 2571.77 1/1 99 91 0 91 1.0 exonic rs3803763 RAI1 AD,AO nonsynonymous SNV NM_030665 exon3 c.G269C p.G90A 0.666933 0.9167 0.412178 0.4882 0.9238 0.26 T 0.000 P -1.029 T 0.0 T 0.0 T Pathogenic 17_17696755_C->A 17 17696755 17696755 C A snp 1843.77 0/1 99 142 65 77 0.54 exonic rs11649804 RAI1 AD,AO nonsynonymous SNV NM_030665 exon3 c.C493A p.P165T 0.563698 0.8353 0.337152 0.4417 0.8511 0.09 T 0.252 P -0.995 T 1.0 D 0.997 D Pathogenic 17_17697094_CAGCAGCAG->- 17 17697094 17697102 CAGCAGCAG - indel 7574.73 ./1 99 126 0 126 1.0 exonic rs749836416 RAI1 AD,AO nonframeshift deletion NM_030665 exon3 c.832_840del p.278_280del 0.0133 0.2750 Uncertain 17_17697094_CAG->- 17 17697094 17697096 CAG - indel 7574.73 ./1 99 126 0 126 1.0 exonic rs113303801 RAI1 AD,AO nonframeshift deletion NM_030665 exon3 c.832_834del p.278_278del 0.2141 0.0779 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000157078.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 ID=COSM1479304;OCCURENCE=1(breast) Uncertain 17_17698254_G->A 17 17698254 17698254 G A snp 3030.77 0/1 99 216 101 115 0.53 exonic rs8067439 RAI1 AD,AO synonymous SNV NM_030665 exon3 c.G1992A p.P664P 0.39976 0.1617 0.601107 0.5069 0.1494 Uncertain 17_17699244_G->T 17 17699244 17699244 G T snp 2484.77 0/1 99 176 75 101 0.57 exonic rs529394637 RAI1 AD,AO synonymous SNV NM_030665 exon3 c.G2982T p.R994R 0.000199681 8.185e-05 0.0006 Uncertain 17_17712527_-->GTGGA 17 17712527 17712527 - GTGGA indel 1086.73 0/1 99 52 29 23 0.44 intronic rs140447784 RAI1 AD,AO NM_030665 exon5 c.16441-176insGTGGA 0.00738818 0.002 0.0049 0.0061 Uncertain 17_17714851_G->- 17 17714851 17714851 G - indel 125.8 1/1 18 6 0 6 1.0 UTR3 rs11304210 SREBF1 AU 0.666134 0.9256 Uncertain 17_17715022_C->A 17 17715022 17715022 C A snp 787.77 0/1 99 106 65 41 0.39 UTR3 rs13306741 SREBF1 AU 0.0103834 0.0476 0.0019 0.0354 Uncertain 17_17715101_G->A 17 17715101 17715101 G A snp 1609.77 0/1 99 97 29 68 0.7 UTR3 rs11868035 SREBF1 AU 0.51238 0.8353 0.5484 0.86 Uncertain 17_17715317_C->G 17 17715317 17715317 C G snp 638.77 0/1 99 67 37 30 0.45 UTR3 rs2297508 SREBF1 AU 0.414736 0.1627 0.4387 0.1429 Uncertain 17_17719503_G->T 17 17719503 17719503 G T snp 84.28 1/1 9 3 0 3 1.0 intronic rs7501788 SREBF1 AU NM_004176 exon9 c.3585-17G>T 0.573882 0.5933 0.0795 0 Uncertain 17_17720838_G->A 17 17720838 17720838 G A snp 1395.77 0/1 99 113 55 58 0.51 intronic rs2282180 SREBF1 AU NM_004176 exon12 c.4836+67G>A 0.0197684 0.0754 0.0097 0.1166 Uncertain 17_17721457_A->G 17 17721457 17721457 A G snp 97.77 0/1 99 7 3 4 0.57 intronic rs4925115 SREBF1 AU NM_004176 exon14 c.5638-116A>G 0.451478 0.1617 Uncertain 17_17739958_G->A 17 17739958 17739958 G A snp 1111.77 0/1 99 90 41 49 0.54 intronic rs3785497 SREBF1 AU NM_004176 exon19 c.24105-82G>A 0.0171725 0.0774 Uncertain 17_17752002_G->A 17 17752002 17752002 G A snp 82.77 0/1 96 7 3 4 0.57 intronic rs79886927 TOM1L2 AU NM_001288789 exon2 c.1188-134G>A 0.0225639 0.0655 Uncertain 17_17752392_T->C 17 17752392 17752392 T C snp 97.77 0/1 99 12 7 5 0.42 intronic rs3737122 TOM1L2 AU NM_001288789 exon2 c.1225+219T>C 0.0557109 0.0923 Uncertain 17_17766253_T->C 17 17766253 17766253 T C snp 569.77 0/1 99 46 20 26 0.57 intronic rs73979209 TOM1L2 AU NM_001288789 exon6 c.15214+91T>C 0.0826677 0.0942 Uncertain 17_17766436_C->A 17 17766436 17766436 C A snp 829.77 0/1 99 73 39 34 0.47 intronic rs73299873 TOM1L2 AU NM_001288789 exon6 c.15214+274C>A 0.0401358 0.0764 Uncertain 17_17774118_C->T 17 17774118 17774118 C T snp 574.77 0/1 99 50 25 25 0.5 intronic rs9907287 TOM1L2 AU NM_001288789 exon9 c.21839+1331C>T 0.410942 0.1528 Uncertain 17_17787880_T->C 17 17787880 17787880 T C snp 367.77 0/1 99 40 23 17 0.42 intronic rs56160247 TOM1L2 AU NM_001082968 exon11 c.36999-67T>C 0.0385383 0.0764 Uncertain 17_17875342_A->G 17 17875342 17875342 A G snp 104.28 1/1 9 5 0 5 1.0 intronic rs57728924 TOM1L2 AU NM_001288789 exon13 c.124627-233A>G 0.664936 0.9167 Uncertain 17_17875407_A->G 17 17875407 17875407 A G snp 356.78 1/1 27 16 0 16 1.0 intronic rs59304093 TOM1L2 AU NM_001288789 exon13 c.124627-168A>G 0.664936 0.9167 Uncertain 17_17880877_A->G 17 17880877 17880877 A G snp 1360.77 1/1 96 53 0 53 1.0 intronic rs7219320 LRRC48 AU 0.665535 0.9187 0.423496 0.4955 0.9176 Uncertain 17_17891197_C->T 17 17891197 17891197 C T snp 703.77 0/1 99 55 30 25 0.45 intronic rs74721735 LRRC48 AU NM_001130092 exon5 c.10333-48C>T 0.0109824 0.0407 0.003357 0.0046 0.0284 Uncertain 17_17896090_C->T 17 17896090 17896090 C T snp 963.77 0/1 99 101 57 44 0.44 exonic rs4368210 LRRC48 AU synonymous SNV NM_001130092 exon6 c.C456T p.L152L 0.581869 0.8641 0.353835 0.4657 0.8795 Uncertain 17_17896205_C->T 17 17896205 17896205 C T snp 995.77 0/1 99 108 63 45 0.42 exonic rs4584886 LRRC48 AU nonsynonymous SNV NM_001130092 exon6 c.C571T p.R191W 0.582069 0.8641 0.350987 0.4613 0.8804 0.01 T 1.000 P -1.057 T 1.0 D 0.984 D Pathogenic 17_17897739_T->C 17 17897739 17897739 T C snp 3313.77 1/1 99 114 0 114 1.0 intronic rs4924832 LRRC48 AU NM_001130092 exon7 c.16820+7T>C 0.632588 0.9048 0.360627 0.5336 0.8914 Uncertain 17_17898243_C->T 17 17898243 17898243 C T snp 74.77 0/1 99 6 3 3 0.5 intronic rs9899355 LRRC48 AU NM_001130092 exon8 c.17400-69C>T 0.486821 0.5853 Uncertain 17_17898531_T->C 17 17898531 17898531 T C snp 869.77 0/1 99 74 37 37 0.5 intronic rs118118204 LRRC48 AU NM_001130092 exon8 c.17513+106T>C 0.0109824 0.0407 Uncertain 17_17900990_T->C 17 17900990 17900990 T C snp 104.77 0/1 64 6 2 4 0.67 intronic rs8071238 LRRC48 AU NM_001130092 exon9 c.20036+42T>C 0.589058 0.8661 0.373926 0.4800 0.8882 Uncertain 17_17910477_T->G 17 17910477 17910477 T G snp 135.79 0/1 22 6 1 5 0.83 intronic rs535141650 LRRC48 AU NM_001130092 exon12 c.29549+16T>G 0.058107 0.0397 Uncertain 17_17910680_A->G 17 17910680 17910680 A G snp 1253.77 0/1 99 118 65 53 0.45 intronic rs117656857 LRRC48 AU NM_001130092 exon13 c.29799-31A>G 0.00898562 0.0407 0.000219 0.0027 0.0274 Uncertain 17_17910991_C->T 17 17910991 17910991 C T snp 37.77 0/1 66 4 2 2 0.5 UTR3 rs78284818 LRRC48 AU 0.0107827 0.0407 Uncertain 17_17911014_G->A 17 17911014 17911014 G A snp 128.03 1/1 12 4 0 4 1.0 UTR3 rs12150369 LRRC48 AU 0.630791 0.9048 Uncertain 17_17919749_G->T 17 17919749 17919749 G T snp 497.77 1/1 39 16 0 16 1.0 intronic rs9913277 LRRC48 AU NM_001130090 exon15 c.38959-122G>T 0.663139 0.9048 Uncertain 17_17922200_A->G 17 17922200 17922200 A G snp 150.77 0/1 99 10 5 5 0.5 intronic rs113260817 ATPAF2 AR NM_145691 exon1 c.138+200A>G 0.0175719 0.0407 Uncertain 17_17931884_-->AA 17 17931884 17931884 - AA indel 173.5 1/1 3 26 1 25 0.96 intronic rs10652393 ATPAF2 AR NM_145691 exon7 c.10066-44insAA 0.1737 0.2971 Uncertain 17_17942293_C->T 17 17942293 17942293 C T snp 1220.77 0/1 99 104 48 56 0.54 exonic rs149036879 ATPAF2 AR nonsynonymous SNV NM_145691 exon1 c.G35A p.G12E 0.00898562 0.0407 0.000231 0.0046 0.0365 0.27 T 1 N -0.885 T 0.866 T 0.578 P CLINSIG=non-pathogenic;CLNDBN=not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000123786.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Pathogenic 17_17942474_C->T 17 17942474 17942474 C T snp 370.77 0/1 99 30 15 15 0.5 UTR5 rs75249497 ATPAF2 AR 0.0109824 0.0407 Uncertain 17_17997146_C->G 17 17997146 17997146 C G snp 1317.77 0/1 99 98 45 53 0.54 exonic rs2230315 DRG2 AU synonymous SNV NM_001388 exon2 c.C84G p.G28G 0.0253594 0.1042 0.004690 0.0115 0.1099 Uncertain 17_18003648_G->A 17 18003648 18003648 G A snp 403.77 0/1 99 28 13 15 0.54 intronic rs854814 DRG2 AU NM_001388 exon6 c.12339-28G>A 0.555911 0.6597 0.390512 0.4416 0.6448 Uncertain 17_18003671_T->G 17 18003671 18003671 T G snp 1455.77 1/1 99 46 0 46 1.0 splicing rs2272570 DRG2 AU NM_001388 exon6 c.12339-5T>G 0.904952 0.8284 0.923804 0.9095 0.8251 Pathogenic 17_18005073_A->G 17 18005073 18005073 A G snp 1496.77 0/1 99 114 54 60 0.53 intronic rs721669 DRG2 AU NM_001388 exon9 c.13897-161A>G 0.520367 0.6597 Uncertain 17_18007034_C->T 17 18007034 18007034 C T snp 928.77 0/1 99 81 46 35 0.43 intronic rs118144387 DRG2 AU NM_001388 exon10 c.15777-80C>T 0.0253594 0.1042 Uncertain 17_18009843_A->G 17 18009843 18009843 A G snp 1434.77 0/1 99 126 65 61 0.48 intronic rs112916480 DRG2 AU NM_001388 exon12 c.18463+43A>G 0.0301518 0.1042 0.009227 0.0128 0.1104 Uncertain 17_18022039_A->C 17 18022039 18022039 A C snp 116.77 0/1 99 11 7 4 0.36 UTR5 rs854818 MYO15A AR 0.607029 0.6567 Uncertain 17_18023897_G->A 17 18023897 18023897 G A snp 1047.77 0/1 99 127 72 55 0.43 exonic rs2955365 MYO15A AR nonsynonymous SNV NM_016239 exon2 c.G1783A p.A595T 0.553514 0.6567 0.335434 0.5289 0.6756 0.05 T 1.000 P -0.899 T 0.689 T 0.186 P ID=CM1411115;DIS=Deafness;TAG=DM?;PUB=25342930 DM? Pathogenic 17_18024013_A->G 17 18024013 18024013 A G snp 665.77 0/1 99 52 24 28 0.54 exonic rs2955366 MYO15A AR synonymous SNV NM_016239 exon2 c.A1899G p.P633P 0.565895 0.6567 0.303644 0.5258 0.6579 Uncertain 17_18024266_T->G 17 18024266 18024266 T G snp 340.77 0/1 99 24 9 15 0.63 exonic rs2955367 MYO15A AR nonsynonymous SNV NM_016239 exon2 c.T2152G p.W718G 0.496006 0.6567 0.6112 0.5821 0.2 T 1.000 P -0.890 T 0.808 T 0.161 P ID=CM1411116;DIS=Deafness;TAG=DM?;PUB=25342930 DM? Pathogenic 17_18025527_A->G 17 18025527 18025527 A G snp 2885.77 0/1 99 250 133 117 0.47 exonic rs76468019 MYO15A AR nonsynonymous SNV NM_016239 exon2 c.A3413G p.Q1138R 0.0385383 0.1042 0.014576 0.0142 0.1092 0.65 T 1.000 N -1.024 T 0.0 T 0.0 T Pathogenic 17_18025744_C->G 17 18025744 18025744 C G snp 1307.77 1/1 96 35 0 35 1.0 intronic rs712268 MYO15A AR NM_016239 exon2 c.3609+21C>G 0.603435 0.7609 0.390439 0.4600 0.7387 Uncertain 17_18028234_T->A 17 18028234 18028234 T A snp 114.8 0/1 21 5 1 4 0.8 intronic rs79489518 MYO15A AR NM_016239 exon4 c.6367-247T>A 0.0385383 0.1042 Uncertain 17_18028318_C->G 17 18028318 18028318 C G snp 861.77 0/1 99 69 37 32 0.46 intronic rs854790 MYO15A AR NM_016239 exon4 c.6367-163C>G 0.539936 0.6567 Uncertain 17_18029857_C->T 17 18029857 18029857 C T snp 263.77 0/1 99 17 6 11 0.65 intronic rs854791 MYO15A AR NM_016239 exon5 c.7656+87C>T 0.494609 0.6567 Uncertain 17_18030240_T->C 17 18030240 18030240 T C snp 1467.77 0/1 99 136 75 61 0.45 intronic rs854792 MYO15A AR NM_016239 exon6 c.8065+61T>C 0.401757 0.3333 0.302234 Uncertain 17_18030524_G->A 17 18030524 18030524 G A snp 2544.77 0/1 99 224 115 109 0.49 intronic rs854793 MYO15A AR NM_016239 exon7 c.8369+41G>A 0.375399 0.2996 0.280220 0.3045 0.2965 Uncertain 17_18039263_A->T 17 18039263 18039263 A T snp 146.77 0/1 99 13 8 5 0.38 intronic rs854785 MYO15A AR NM_016239 exon12 c.17024+125A>T 0.511581 0.6627 Uncertain 17_18041507_C->T 17 18041507 18041507 C T snp 2588.77 0/1 99 203 100 103 0.51 exonic rs2280777 MYO15A AR synonymous SNV NM_016239 exon16 c.C4954T p.L1652L 0.478634 0.5933 0.501389 0.5194 0.5997 Uncertain 17_18042276_A->C 17 18042276 18042276 A C snp 1346.77 0/1 99 93 41 52 0.56 intronic rs2075658 MYO15A AR NM_016239 exon17 c.20136+26A>C 0.685703 0.5982 0.765657 0.7092 0.6056 Uncertain 17_18042527_A->G 17 18042527 18042527 A G snp 696.77 0/1 99 59 27 32 0.54 intronic rs854783 MYO15A AR NM_016239 exon17 c.20136+277A>G 0.685903 0.5972 Uncertain 17_18042536_C->G 17 18042536 18042536 C G snp 655.77 0/1 99 61 29 32 0.52 intronic rs192642129 MYO15A AR NM_016239 exon17 c.20136+286C>G 0.00219649 0.0099 Uncertain 17_18042976_C->A 17 18042976 18042976 C A snp 944.77 0/1 99 58 20 38 0.66 intronic rs854782 MYO15A AR NM_016239 exon18 c.20811+51C>A 0.449481 0.5843 0.472501 0.5015 0.5920 Uncertain 17_18043766_C->G 17 18043766 18043766 C G snp 952.77 0/1 99 101 59 42 0.42 intronic rs854780 MYO15A AR NM_016239 exon19 c.21716-64C>G 0.680312 0.5972 Uncertain 17_18043817_C->T 17 18043817 18043817 C T snp 1489.77 0/1 99 129 67 62 0.48 intronic rs2072652 MYO15A AR NM_016239 exon19 c.21716-13C>T 0.236821 0.5149 0.123227 0.1775 0.5046 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000038971.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 17_18044592_C->T 17 18044592 18044592 C T snp 108.77 0/1 99 9 5 4 0.44 intronic rs2075659 MYO15A AR NM_016239 exon21 c.22343+135C>T 0.236821 0.5129 Uncertain 17_18045098_G->A 17 18045098 18045098 G A snp 2401.77 0/1 99 214 107 107 0.5 intronic rs2072653 MYO15A AR NM_016239 exon22 c.22970+14G>A 0.236621 0.5129 0.123804 0.1753 0.4993 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000038973.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 17_18045641_G->A 17 18045641 18045641 G A snp 80.77 0/1 99 6 3 3 0.5 intronic rs12449609 MYO15A AR NM_016239 exon23 c.23454+73G>A 0.23722 0.5169 Uncertain 17_18046058_A->C 17 18046058 18046058 A C snp 1335.77 0/1 99 120 62 58 0.48 intronic rs854778 MYO15A AR NM_016239 exon24 c.23955-11A>C 0.684305 0.6012 0.769006 0.7131 0.6021 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000038974.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 17_18046898_T->C 17 18046898 18046898 T C snp 543.77 0/1 99 40 20 20 0.5 exonic rs854777 MYO15A AR nonsynonymous SNV NM_016239 exon25 c.T5929C p.C1977R 0.718051 0.619 0.803406 0.7395 0.6729 0.77 T 1.000 P -0.959 T 0.0 T 0.0 T CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000038976.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 17_18047189_G->A 17 18047189 18047189 G A snp 1373.77 0/1 99 130 68 62 0.48 exonic rs2272571 MYO15A AR nonsynonymous SNV NM_016239 exon27 c.G6052A p.G2018R 0.238219 0.5179 0.122405 0.2572 0.5718 1 T 0.999 P -0.964 T 0.0 T 0.0 T CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000038977.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 17_18047671_-->C 17 18047671 18047671 - C indel 962.73 1/1 75 25 0 25 1.0 intronic rs11421905 MYO15A AR NM_016239 exon28 c.25696-139insC 1 1 Uncertain 17_18047772_-->C 17 18047772 18047772 - C indel 899.73 0/1 99 94 64 30 0.32 intronic rs11421904 MYO15A AR NM_016239 exon28 c.25696-38insC 0.683906 0.5982 0.767135 0.7149 0.6060 Uncertain 17_18051975_T->C 17 18051975 18051975 T C snp 1007.77 0/1 99 141 95 46 0.33 intronic rs854774 MYO15A AR NM_016239 exon31 c.29768+93T>C 0.683706 0.6012 Uncertain 17_18052466_A->G 17 18052466 18052466 A G snp 2203.77 1/1 99 74 0 74 1.0 intronic rs4303606 MYO15A AR NM_016239 exon33 c.30415-63A>G 1 1 Uncertain 17_18052867_T->C 17 18052867 18052867 T C snp 2592.77 1/1 99 93 0 93 1.0 exonic rs2955379 MYO15A AR synonymous SNV NM_016239 exon34 c.T7185C p.F2395F 0.989816 1 0.999518 0.9895 0.9998 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000038982.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 17_18054692_G->A 17 18054692 18054692 G A snp 3520.77 0/1 99 250 112 138 0.55 intronic rs2056841 MYO15A AR NM_016239 exon39 c.32594-16G>A 0.239617 0.5208 0.126457 0.1769 0.5050 Uncertain 17_18054868_G->T 17 18054868 18054868 G T snp 1727.77 0/1 99 137 62 75 0.55 intronic rs854773 MYO15A AR NM_016239 exon39 c.32727+27G>T 0.681909 0.6022 0.772403 0.7178 0.6121 Uncertain 17_18057272_A->G 17 18057272 18057272 A G snp 996.77 0/1 99 80 40 40 0.5 intronic rs712271 MYO15A AR NM_016239 exon42 c.35096+62A>G 0.681909 0.6022 Uncertain 17_18059454_G->A 17 18059454 18059454 G A snp 674.77 0/1 99 37 14 23 0.62 intronic rs2242595 MYO15A AR NM_016239 exon47 c.37394-54G>A 0.240615 0.5228 Uncertain 17_18069628_G->T 17 18069628 18069628 G T snp 385.77 0/1 99 34 20 14 0.41 intronic rs72827432 MYO15A AR NM_016239 exon60 c.47560-46G>T 0.239417 0.5387 0.115925 0.1775 0.5263 Uncertain 17_18070761_G->A 17 18070761 18070761 G A snp 557.77 0/1 99 37 16 21 0.57 intronic rs854796 MYO15A AR NM_016239 exon61 c.48789-142G>A 0.697484 0.627 Uncertain 17_18077175_T->C 17 18077175 18077175 T C snp 1760.77 0/1 99 154 79 75 0.49 exonic rs854800 MYO15A AR synonymous SNV NM_016239 exon64 c.T10431C p.Y3477Y 0.721446 0.6319 0.794923 0.7312 0.6431 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000038967.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 17_18087299_C->T 17 18087299 18087299 C T snp 1168.77 0/1 99 94 40 54 0.57 UTR5 rs1064629 ALKBH5 AU 0.235024 0.5417 0.1571 0.5070 0 D 1.000 P -0.938 T Uncertain 17_18133495_G->A 17 18133495 18133495 G A snp 876.77 1/1 66 29 0 29 1.0 intronic rs2290502 LLGL1 AU NM_004140 exon2 c.4356+143G>A 0.774161 0.6736 Uncertain 17_18135753_T->C 17 18135753 18135753 T C snp 1774.77 1/1 99 58 0 58 1.0 intronic rs2290503 LLGL1 AU NM_004140 exon3 c.6812-55T>C 0.777157 0.6786 0.779676 Uncertain 17_18136988_T->C 17 18136988 18136988 T C snp 380.77 1/1 30 10 0 10 1.0 intronic rs2290504 LLGL1 AU NM_004140 exon5 c.8095-103T>C 0.777356 0.6786 Uncertain 17_18137141_A->G 17 18137141 18137141 A G snp 5682.77 1/1 99 210 0 210 1.0 exonic rs2290505 LLGL1 AU nonsynonymous SNV NM_004140 exon5 c.A442G p.S148G 0.782348 0.6786 0.780332 0.7588 0.6920 0.51 T 0.0 P -1.076 T 0.0 T 0.0 T Pathogenic 17_18139896_G->T 17 18139896 18139896 G T snp 903.77 1/1 66 33 0 33 1.0 intronic rs2746028 LLGL1 AU NM_004140 exon12 c.10924-24G>T 0.467452 0.5982 0.356682 0.4318 0.5910 Uncertain 17_18141705_C->T 17 18141705 18141705 C T snp 1446.77 0/1 99 132 67 65 0.49 intronic rs2245430 LLGL1 AU NM_004140 exon16 c.12773-64C>T 0.288938 0.3641 Uncertain 17_18149221_TGCCCGCC->- 17 18149221 18149228 TGCCCGCC - indel 11116.7 0/1 99 249 125 124 0.5 intronic rs201849922 FLII AU NM_002018 exon5 c.796-26_796-19delTGCCCGCC 0.00219649 0.0099 0.000559 0.0017 0.0116 Uncertain 17_18149854_A->G 17 18149854 18149854 A G snp 2067.77 0/1 99 184 103 81 0.44 intronic rs2856289 FLII AU NM_002018 exon8 c.1456-53A>G 0.726038 0.629 Uncertain 17_18150393_G->A 17 18150393 18150393 G A snp 2508.77 1/1 99 86 2 84 0.98 intronic rs116865265 FLII AU NM_002018 exon9 c.1915+27G>A 0.0355431 0.1389 0.001154 0.0200 0.1397 Uncertain 17_18194362_C->T 17 18194362 18194362 C T snp 1450.77 1/1 99 50 0 50 1.0 intronic rs6502645 TOP3A AU NM_004618 exon8 c.16226+21C>T 0.993411 1 0.984622 0.9871 1 Uncertain 17_18286742_G->- 17 18286742 18286742 G - indel 91.73 0/1 99 14 8 6 0.43 intronic rs749776003 EVPLL AU NM_001145127 exon8 c.2441+50delG 0.028182 0.0092 0.0299 Uncertain 17_18286916_-->G 17 18286916 18286916 - G indel 3863.73 1/1 99 95 0 95 1.0 intronic rs112094897 EVPLL AU NM_001145127 exon9 c.2650+15insG 0.9998 1 0.3182 0 Uncertain 17_18286922_-->G 17 18286922 18286922 - G indel 2958.73 1/1 99 88 2 86 0.98 intronic rs111736884 EVPLL AU NM_001145127 exon9 c.2650+21insG 0.9998 1 1 . Uncertain 17_18286930_-->G 17 18286930 18286930 - G indel 2996.73 1/1 99 80 0 80 1.0 intronic rs200680358 EVPLL AU NM_001145127 exon9 c.2650+29insG 1 1 0.999493 0 . Uncertain 17_18286938_-->G 17 18286938 18286938 - G indel 2824.73 1/1 99 73 0 73 1.0 intronic rs145486982 EVPLL AU NM_001145127 exon9 c.2650+37insG 0.999378 1 . Uncertain 17_18314913_T->C 17 18314913 18314913 T C snp 368.77 0/1 99 103 78 25 0.24 ncRNA_exonic rs62074237 FLJ35934 AU 0.4116 0.3793 0 D -0.913 T Uncertain 17_18314964_T->G 17 18314964 18314964 T G snp 1770.77 0/1 99 187 107 80 0.43 ncRNA_exonic rs62074238 FLJ35934 AU 0.4991 0.5 0 D -0.809 T Uncertain 17_18380135_C->G 17 18380135 18380135 C G snp 633.77 0/1 99 81 43 38 0.47 UTR5 rs4924879 LGALS9C AU 0.4044 0.3981 Uncertain 17_18380154_A->G 17 18380154 18380154 A G snp 688.77 0/1 99 83 44 39 0.47 UTR5 rs1682220 LGALS9C AU 0.5112 0.3992 Uncertain 17_18380260_C->A 17 18380260 18380260 C A snp 166.77 0/1 99 22 12 10 0.45 intronic rs77759205 LGALS9C AU NM_001040078 exon1 c.39+53C>A Uncertain 17_18394010_G->A 17 18394010 18394010 G A snp 36.77 0/1 65 123 101 22 0.18 intronic rs62076329 LGALS9C AU NM_001040078 exon6 c.13878-36G>A 0.3947 0.2368 Uncertain 17_18394056_G->A 17 18394056 18394056 G A snp 39.77 0/1 68 168 139 29 0.17 exonic rs201967116 LGALS9C AU nonsynonymous SNV NM_001040078 exon6 c.G550A p.V184M 0.043029 0.1776 0.1667 0.22 T 1 N -1.000 T 0.962 D 0.296 D Pathogenic 17_18445547_G->A 17 18445547 18445547 G A snp 32.77 0/1 61 11 7 4 0.36 ncRNA_intronic rs1725682 CCDC144B AU Uncertain 17_18498059_-->A 17 18498059 18498059 - A indel 598.73 1/1 45 15 0 15 1.0 ncRNA_exonic rs66528329 CCDC144B AU 0.759984 0.9365 0.561376 0.3978 0.7936 Uncertain 17_18498497_-->A 17 18498497 18498497 - A indel 625.73 1/1 56 35 1 34 0.97 ncRNA_splicing rs397961350 CCDC144B AU 0.522764 0.6756 0.5231 0.6815 Uncertain 17_18528623_A->G 17 18528623 18528623 A G snp 2364.77 1/1 99 85 0 85 1.0 ncRNA_exonic rs34925025 CCDC144B AU 0.738818 0.9554 0.526628 0.5978 0.9386 Uncertain 17_18541296_G->A 17 18541296 18541296 G A snp 862.77 1/1 66 62 0 62 1.0 intronic rs2386412 TBC1D28 AU NM_001039397 exon2 c.1512+10G>A 0.1197 0.5536 Uncertain 17_18541775_A->G 17 18541775 18541775 A G snp 2686.77 1/1 99 88 0 88 1.0 intronic rs9902086 TBC1D28 AU NM_001039397 exon3 c.1959+42A>G 0.717652 0.9583 0.581494 0.6023 0.9420 Uncertain 17_18541852_-->GATGGTG 17 18541852 18541852 - GATGGTG indel 5578.73 1/1 99 54 0 54 1.0 intronic TBC1D28 AU NM_001039397 exon4 c.2159-81insGATGGTG Uncertain 17_18541853_CCCAC->- 17 18541853 18541857 CCCAC - indel 3949.73 1/1 99 49 0 49 1.0 intronic TBC1D28 AU NM_001039397 exon4 c.2159-80_2159-76delCCCAC Uncertain 17_18541868_A->G 17 18541868 18541868 A G snp 3601.77 1/1 99 122 0 122 1.0 intronic rs55807264 TBC1D28 AU NM_001039397 exon4 c.2159-65A>G 0.709864 0.9583 Uncertain 17_18542074_G->A 17 18542074 18542074 G A snp 4202.77 1/1 99 146 0 146 1.0 intronic rs9908833 TBC1D28 AU NM_001039397 exon4 c.2240+60G>A 0.709265 0.9583 0.580377 Uncertain 17_18542107_G->A 17 18542107 18542107 G A snp 1364.77 0/1 99 98 42 56 0.57 intronic rs80078274 TBC1D28 AU NM_001039397 exon4 c.2240+93G>A 0.167732 0.1806 Uncertain 17_18542432_T->C 17 18542432 18542432 T C snp 468.77 1/1 42 38 0 38 1.0 intronic rs201342024 TBC1D28 AU NM_001039397 exon5 c.2713-55T>C Uncertain 17_18542519_T->G 17 18542519 18542519 T G snp 479.77 0/1 99 55 14 41 0.75 exonic rs3852810 TBC1D28 AU nonsynonymous SNV NM_001039397 exon6 c.A167C p.E56A 0.4409 0.5855 0.04 T 0.0 P -0.974 T 0.035 T 0.003 T Pathogenic 17_18544520_G->A 17 18544520 18544520 G A snp 922.77 1/1 72 102 39 63 0.62 intronic rs61214560 TBC1D28 AU NM_001039397 exon7 c.4816-70G>A 0.602037 0.9573 Uncertain 17_18653021_T->C 17 18653021 18653021 T C snp 331.77 0/1 99 141 94 47 0.33 intronic rs199551168 FBXW10 AU NM_001267586 exon3 c.5477-13T>C 0.0026 0.0061 Uncertain 17_18671733_C->A 17 18671733 18671733 C A snp 1181.77 1/1 87 36 1 35 0.97 intronic rs10775382 FBXW10 AU NM_001267586 exon10 c.24289-113C>A 0.804912 0.755 Uncertain 17_18694277_G->A 17 18694277 18694277 G A snp 3415.77 1/1 99 158 0 158 1.0 exonic rs61075345 TVP23B AU nonsynonymous SNV NM_016078 exon3 c.G164A p.G55E 0.843051 0.8948 0.816316 0.8392 0.9049 0.95 T 1.0 P -0.959 T 0.0 T 0.002 T Pathogenic 17_18702220_T->C 17 18702220 18702220 T C snp 6706.77 1/1 99 246 0 246 1.0 exonic rs8080471 TVP23B AU synonymous SNV NM_016078 exon5 c.T426C p.A142A 0.677516 0.8284 0.674535 0.6925 0.8210 Uncertain 17_18707275_A->G 17 18707275 18707275 A G snp 294.78 1/1 24 8 0 8 1.0 intronic rs201831386 TVP23B AU NM_016078 exon6 c.22844-175A>G 0.285144 0.5615 Uncertain 17_18708830_-->T 17 18708830 18708830 - T indel 2741.73 1/1 99 161 5 156 0.97 intronic rs397792848 TVP23B AU NM_016078 exon7 c.24247-23insT 0.4653 0.5113 Uncertain 17_18709003_TT->- 17 18709003 18709004 TT - indel 558.73 1/1 36 13 0 13 1.0 UTR3 rs59912867 TVP23B AU 0.284345 0.5615 Uncertain 17_18769349_T->C 17 18769349 18769349 T C snp 374.77 1/1 30 10 0 10 1.0 intronic rs2386404 PRPSAP2 AU NM_001243940 exon2 c.119+84T>C 0.470647 0.3323 Uncertain 17_18770733_G->A 17 18770733 18770733 G A snp 4467.77 1/1 99 162 1 161 0.99 intronic rs2305064 PRPSAP2 AU NM_001243940 exon3 c.1501+86G>A 0.46845 0.3323 Uncertain 17_18775900_A->G 17 18775900 18775900 A G snp 3003.77 1/1 99 119 0 119 1.0 exonic rs4393623 PRPSAP2 AU synonymous SNV NM_001243940 exon4 c.A177G p.T59T 0.46246 0.3294 0.558204 0.4998 0.3318 Uncertain 17_18776020_A->T 17 18776020 18776020 A T snp 2584.77 1/1 99 87 0 87 1.0 intronic rs7503678 PRPSAP2 AU NM_001243940 exon4 c.6816+58A>T 0.46266 0.3294 0.561350 Uncertain 17_18793061_C->T 17 18793061 18793061 C T snp 2140.77 1/1 99 79 0 79 1.0 intronic rs3803835 PRPSAP2 AU NM_001243942 exon7 c.12105-73C>T 0.46246 0.3284 Uncertain 17_18793225_A->G 17 18793225 18793225 A G snp 1948.77 1/1 99 66 0 66 1.0 intronic rs3826380 PRPSAP2 AU NM_001243942 exon7 c.12161+35A>G 0.46246 0.3284 0.559588 0.5005 0.3319 Uncertain 17_18814661_-->TA 17 18814661 18814661 - TA indel 1563.73 1/1 99 33 0 33 1.0 intronic rs55971101 PRPSAP2 AU NM_001243942 exon8 c.33535+97insTA 0.800919 0.5516 Uncertain 17_18827349_TTGA->- 17 18827349 18827352 TTGA - indel 2316.73 1/1 99 67 0 67 1.0 intronic rs145452716 PRPSAP2 AU NM_001243942 exon9 c.46268+52_46268+55delTTGA 0.0648962 0.0526 0.0791 0.0642 Uncertain 17_18855486_G->A 17 18855486 18855486 G A snp 785.77 0/1 99 90 54 36 0.4 UTR5 rs2073078 SLC5A10 AU 0.153355 0.4058 0.071597 0.1608 0.4716 Uncertain 17_18855807_G->C 17 18855807 18855807 G C snp 161.77 0/1 63 7 2 5 0.71 intronic rs2258367 SLC5A10 AU NM_152351 exon1 c.111+178G>C 0.845447 0.6845 Uncertain 17_18863105_C->T 17 18863105 18863105 C T snp 735.77 1/1 54 26 0 26 1.0 intronic rs2074276 SLC5A10 AU NM_152351 exon4 c.7458+129C>T 0.378594 0.5218 Uncertain 17_18872337_T->C 17 18872337 18872337 T C snp 3153.77 1/1 99 113 0 113 1.0 intronic rs8415 SLC5A10 AU NM_152351 exon6 c.16846-27T>C 0.525759 0.6052 0.523528 0.5319 0.5933 Uncertain 17_18874685_-->GGT 17 18874685 18874685 - GGT indel 5699.73 1/1 99 103 0 103 1.0 exonic rs3071666 FAM83G AU nonframeshift insertion NM_001039999 exon6 c.2458_2459insACC p.R820delinsHR 0.651757 0.6349 0.595543 0.6077 0.6320 ID=COSM1381396;OCCURENCE=1(large_intestine),2(upper_aerodigestive_tract) Uncertain 17_18874720_C->G 17 18874720 18874720 C G snp 3719.77 1/1 99 139 0 139 1.0 exonic rs916823 FAM83G AU synonymous SNV NM_001039999 exon6 c.G2424C p.S808S 0.674321 0.6329 0.626516 0.6139 0.6356 Uncertain 17_18880268_C->A 17 18880268 18880268 C A snp 1922.77 0/1 99 138 57 81 0.59 exonic rs2472715 SLC5A10 AU synonymous SNV NM_001270648 exon8 c.C867A p.I289I 0.26877 0.3671 0.317546 0.3270 0.3722 Uncertain 17_18881596_C->T 17 18881596 18881596 C T snp 1328.77 0/1 99 123 68 55 0.45 exonic rs199770299 FAM83G AU synonymous SNV NM_001039999 exon5 c.G1383A p.L461L 0.000798722 0.004 0.000079 0.0005 0.0049 Uncertain 17_18882991_T->A 17 18882991 18882991 T A snp 1645.77 1/1 99 55 0 55 1.0 splicing rs2472714 FAM83G AU NM_001039999 exon3 c.8315+5T>A 0.990815 0.996 0.9830 0.9936 Pathogenic 17_18907029_A->G 17 18907029 18907029 A G snp 1303.77 0/1 99 127 72 55 0.43 exonic rs2074283 FAM83G AU nonsynonymous SNV NM_001039999 exon2 c.T326C p.I109T 0.282947 0.3998 0.114260 0.1377 0.4149 0.59 T 0.0 P -0.914 T 0.0 T 0.0 T Pathogenic 17_18916893_T->C 17 18916893 18916893 T C snp 316.78 1/1 24 11 0 11 1.0 intronic rs11652575 SLC5A10 AU NM_152351 exon10 c.61312+63T>C 0.510184 0.3006 Uncertain 17_18918396_G->C 17 18918396 18918396 G C snp 1286.77 0/1 99 111 46 65 0.59 exonic rs2074279 SLC5A10 AU synonymous SNV NM_001270648 exon10 c.G1044C p.A348A 0.199081 0.3413 0.107335 0.0862 0.3557 Uncertain 17_18923124_G->A 17 18923124 18923124 G A snp 1619.77 0/1 99 154 82 72 0.47 exonic rs61224181 SLC5A10 AU synonymous SNV NM_001270648 exon12 c.G1428A p.T476T 0.047524 0.2063 0.001384 0.0205 0.2018 Uncertain 17_18923681_C->T 17 18923681 18923681 C T snp 920.77 0/1 99 106 66 40 0.38 exonic rs117355297 SLC5A10 AU synonymous SNV NM_001270648 exon14 c.C1647T p.V549V 0.0195687 0.004 0.022144 0.0270 0.0094 Uncertain 17_18996788_G->C 17 18996788 18996788 G C snp 1214.77 0/1 99 132 80 52 0.39 exonic rs546142633 LOC388436 AU synonymous SNV NM_001291904 exon2 c.G78C p.V26V 0.00179712 0.0079 0.0010 0.0224 Uncertain 17_18997015_T->C 17 18997015 18997015 T C snp 683.77 1/1 57 19 0 19 1.0 intronic rs73982623 LOC388436 AU NM_001291905 exon2 c.387+76T>C 0.625799 0.9683 0.3205 0.9898 0 D -0.851 T Uncertain 17_19216917_T->C 17 19216917 19216917 T C snp 1091.77 0/1 99 109 63 46 0.42 intronic rs3826405 EPN2 AU NM_001102664 exon4 c.3306+325T>C 0.903155 0.8542 Uncertain 17_19231898_T->C 17 19231898 19231898 T C snp 426.77 0/1 99 22 8 14 0.64 intronic rs7206963 EPN2 AU NM_001102664 exon5 c.18737-125T>C 0.903554 0.8542 Uncertain 17_19232078_T->C 17 19232078 19232078 T C snp 2191.77 0/1 99 176 82 94 0.53 exonic rs6587220 EPN2 AU nonsynonymous SNV NM_001102664 exon5 c.T347C p.V116A 0.903355 0.8542 0.989851 0.9276 0.8419 0.55 T 0.0 P -0.983 T 0.0 T 0.0 T Pathogenic 17_19233096_T->C 17 19233096 19233096 T C snp 1082.77 0/1 99 75 35 40 0.53 intronic rs2296979 EPN2 AU NM_001102664 exon6 c.19674+136T>C 0.903155 0.8542 Uncertain 17_19240972_G->A 17 19240972 19240972 G A snp 863.77 0/1 99 77 40 37 0.48 downstream rs11652712 EPN2 AU 0.900759 0.8542 0.8740 0.8214 Uncertain 17_19250679_G->A 17 19250679 19250679 G A snp 1632.77 0/1 99 129 58 71 0.55 intronic rs7221299 B9D1 AR NM_015681 exon3 c.4013+35G>A 0.29972 0.6052 0.153929 0.1868 0.5950 Uncertain 17_19314611_T->C 17 19314611 19314611 T C snp 1245.77 0/1 99 102 48 54 0.53 UTR5 rs739830 RNF112 AU 0.567093 0.4048 Uncertain 17_19314918_TT->- 17 19314918 19314919 TT - indel 116.73 0/1 99 34 19 15 0.44 intronic rs749683503 RNF112 AU NM_007148 exon2 c.221-24_221-23delTT 0.2285 0.1984 Uncertain 17_19318031_A->G 17 19318031 19318031 A G snp 3115.77 0/1 99 250 124 126 0.5 intronic rs1295330 RNF112 AU NM_007148 exon10 c.3361-51A>G 0.568291 0.4048 0.676741 Uncertain 17_19319374_T->C 17 19319374 19319374 T C snp 698.77 0/1 99 53 26 27 0.51 exonic rs76138388 RNF112 AU synonymous SNV NM_007148 exon14 c.T1782C p.A594A 0.229633 0.2847 0.084586 0.1974 0.3979 Uncertain 17_19445923_A->G 17 19445923 19445923 A G snp 442.77 0/1 99 30 14 16 0.53 intronic rs12451696 SLC47A1 AU NM_018242 exon2 c.8555+116A>G 0.443091 0.4127 Uncertain 17_19451139_G->A 17 19451139 19451139 G A snp 80.77 0/1 67 5 2 3 0.6 intronic rs2453575 SLC47A1 AU NM_018242 exon4 c.14045-158G>A 0.184704 0.3145 Uncertain 17_19452711_T->C 17 19452711 19452711 T C snp 353.77 0/1 99 20 6 14 0.7 intronic rs2453572 SLC47A1 AU NM_018242 exon5 c.15695-236T>C 0.210663 0.4038 Uncertain 17_19452712_A->G 17 19452712 19452712 A G snp 345.77 0/1 99 20 6 14 0.7 intronic rs2453571 SLC47A1 AU NM_018242 exon5 c.15695-235A>G 0.211462 0.4038 Uncertain 17_19454575_A->C 17 19454575 19454575 A C snp 285.77 0/1 99 21 12 9 0.43 intronic rs2247518 SLC47A1 AU NM_018242 exon6 c.17484-161A>C 0.251198 0.4028 Uncertain 17_19454725_G->C 17 19454725 19454725 G C snp 1540.77 0/1 99 156 90 66 0.42 intronic rs2247437 SLC47A1 AU NM_018242 exon6 c.17484-11G>C 0.183706 0.3185 0.170897 0.1867 0.3237 Uncertain 17_19454733_G->A 17 19454733 19454733 G A snp 1629.77 0/1 99 155 88 67 0.43 splicing rs2247436 SLC47A1 AU NM_018242 exon6 c.17484-3G>A 0.208267 0.4028 0.175023 0.1995 0.4043 Pathogenic 17_19458777_G->C 17 19458777 19458777 G C snp 924.77 1/1 69 25 0 25 1.0 intronic rs2440149 SLC47A1 AU NM_018242 exon8 c.21653-128G>C 0.709864 0.9276 Uncertain 17_19535920_C->A 17 19535920 19535920 C A snp 1998.77 1/1 99 71 0 71 1.0 intergenic rs28672254 SLC47A1 AU 0.351438 0.5704 Uncertain 17_19552476_C->T 17 19552476 19552476 C T snp 2921.77 1/1 99 111 0 111 1.0 intronic rs4646793 ALDH3A2 AR NM_000382 exon1 c.153+39C>T 0.335264 0.5238 0.245141 0.3983 0.5713 Uncertain 17_19555976_T->C 17 19555976 19555976 T C snp 2443.77 1/1 99 89 0 89 1.0 intronic rs1004491 ALDH3A2 AR NM_000382 exon3 c.3661+31T>C 0.327476 0.5258 0.249885 0.3310 0.5139 Uncertain 17_19559623_G->A 17 19559623 19559623 G A snp 2205.77 1/1 99 66 0 66 1.0 intronic rs2072332 ALDH3A2 AR NM_000382 exon4 c.7394-55G>A 0.336262 0.5248 Uncertain 17_19561012_ACTGAATT->- 17 19561012 19561019 ACTGAATT - indel 14193.7 1/1 99 138 0 138 1.0 intronic rs3034928 ALDH3A2 AR NM_000382 exon5 c.8773-45_8773-38delACTGAATT 0.604433 0.9018 0.468116 0.5735 0.9092 Uncertain 17_19568487_T->- 17 19568487 19568487 T - indel 1140.73 1/1 90 32 0 32 1.0 intronic rs398030497 ALDH3A2 AR NM_000382 exon8 c.16076+127delT 0.678514 0.9861 Uncertain 17_19578873_A->T 17 19578873 19578873 A T snp 4319.77 1/1 99 159 0 159 1.0 exonic rs7216 ALDH3A2 AR synonymous SNV NM_000382 exon10 c.A1446T p.A482A 0.678514 0.9861 0.550669 0.6154 0.9911 Uncertain 17_19608773_G->A 17 19608773 19608773 G A snp 1763.77 1/1 99 72 0 72 1.0 exonic rs4925042 SLC47A2 AU synonymous SNV NM_152908 exon10 c.C993T p.Y331Y 0.426518 0.6081 0.344918 0.3867 0.5935 Uncertain 17_19609947_C->G 17 19609947 19609947 C G snp 4662.77 1/1 99 171 0 171 1.0 intronic rs12942065 SLC47A2 AU NM_152908 exon9 c.27962-13C>G 0.759185 0.9544 0.663617 0.6932 0.9493 Uncertain 17_19642268_-->G 17 19642268 19642268 - G indel 4118.73 1/1 99 115 2 113 0.98 intronic rs11385990 ALDH3A1 AU NM_000691 exon3 c.775-40insG 0.348642 0.4504 0.329446 0.4023 0.5075 Uncertain 17_19643810_G->A 17 19643810 19643810 G A snp 6872.77 1/1 99 248 0 248 1.0 intronic rs3826507 ALDH3A1 AU NM_000691 exon5 c.2257+20G>A 0.294129 0.3274 0.297171 0.3562 0.3524 Uncertain 17_19644226_C->G 17 19644226 19644226 C G snp 185.9 1/1 15 6 0 6 1.0 intronic rs3786036 ALDH3A1 AU NM_000691 exon6 c.2872-179C>G 0.361821 0.5099 Uncertain 17_19644472_A->T 17 19644472 19644472 A T snp 2024.77 1/1 99 72 0 72 1.0 exonic rs2072330 ALDH3A1 AU synonymous SNV NM_001135168 exon5 c.T741A p.P247P 0.290735 0.2956 0.301861 0.3549 0.3229 Uncertain 17_19645938_A->C 17 19645938 19645938 A C snp 7009.77 1/1 99 250 1 249 1.0 exonic rs887241 ALDH3A1 AU nonsynonymous SNV NM_001135168 exon3 c.T400G p.S134A 0.744609 0.9524 0.653314 0.7042 0.9474 0.47 T 0.0 P -0.969 T 0.0 T 0.0 T Pathogenic 17_19699358_T->C 17 19699358 19699358 T C snp 3611.77 1/1 99 129 0 129 1.0 intronic rs192511 ULK2 AU NM_001142610 exon10 c.19746-49T>C 0.752596 0.5923 0.862141 0.8878 0.6171 Uncertain 17_19699606_AT->- 17 19699606 19699607 AT - indel 990.73 1/1 72 35 0 35 1.0 intronic rs10587010 ULK2 AU NM_001142610 exon10 c.19934+11_19934+12delAT 0.874401 0.7331 0.8094 0.7212 Uncertain 17_19713740_C->T 17 19713740 19713740 C T snp 2676.77 1/1 99 107 1 106 0.99 exonic rs150122 ULK2 AU nonsynonymous SNV NM_001142610 exon14 c.G1108A p.V370M 0.886581 0.7401 0.966246 0.9325 0.7703 0.29 T 0.0 P -1.015 T 0.0 T 0.0 T Pathogenic 17_19729495_T->C 17 19729495 19729495 T C snp 1669.77 1/1 99 70 0 70 1.0 exonic rs157397 ULK2 AU synonymous SNV NM_001142610 exon11 c.A792G p.A264A 0.794129 0.5923 0.909434 0.9010 0.6169 Uncertain 17_19812541_T->C 17 19812541 19812541 T C snp 2345.77 0/1 99 235 129 106 0.45 exonic rs203462 AKAP10 AD nonsynonymous SNV NM_007202 exon14 c.A1936G p.I646V 0.39397 0.1895 0.450408 0.3737 0.1824 1 T 0.000 P -0.969 T 0.0 T 0.0 T CLINSIG=other;CLNDBN=Cardiac_conduction_defect\x2c_susceptibility_to;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000005735.1;CLNDSDB=.;CLNDSDBID=. ID=CM030773;DIS=Cardiac disease, susceptibility to, association;TAG=DP;PUB=12646697 DP Pathogenic 17_19835112_C->T 17 19835112 19835112 C T snp 246.77 0/1 99 37 21 16 0.43 splicing rs61749865 AKAP10 AD NM_007202 exon6 c.25578-5C>T 0.0802716 0.0794 0.095802 0.1042 0.0783 Pathogenic 17_19839571_G->A 17 19839571 19839571 G A snp 786.77 0/1 99 78 41 37 0.47 intronic rs200013546 AKAP10 AD NM_007202 exon7 c.30059-27G>A 0.000599042 0.003 0.0001 0.0015 Uncertain 17_19861458_C->T 17 19861458 19861458 C T snp 2334.77 0/1 99 224 124 100 0.45 exonic rs2108978 AKAP10 AD nonsynonymous SNV NM_007202 exon4 c.G746A p.R249H 0.389577 0.1895 0.444948 0.3717 0.1836 0.78 T 0.0 P -0.973 T 0.0 T 0.0 T ID=CM067336;DIS=Lung cancer, susceptibility to, association with;TAG=DP;PUB=16741161 DP Pathogenic 17_19871922_T->C 17 19871922 19871922 T C snp 152.77 0/1 98 8 3 5 0.63 intronic rs11658169 AKAP10 AD NM_007202 exon14 c.62235+148T>C 0.300319 0.4653 Uncertain 17_20000131_G->T 17 20000131 20000131 G T snp 985.77 0/1 99 77 34 43 0.56 intronic rs4925085 SPECC1 AU NM_152904 exon2 c.147+20G>T 0.413938 0.2083 0.524912 0.4945 0.1973 Uncertain 17_20013802_G->A 17 20013802 20013802 G A snp 2297.77 0/1 99 182 79 103 0.57 exonic rs3764436 SPECC1 AU synonymous SNV NM_001033553 exon3 c.G210A p.V70V 0.108826 0.0962 0.118022 0.1155 0.1066 Uncertain 17_20059591_-->C 17 20059591 20059591 - C indel 802.73 0/1 99 82 41 41 0.5 intronic rs3833861 SPECC1 AU NM_001033555 exon1 c.40+42insC 0.407548 0.1696 0.508408 0.4666 0.2024 Uncertain 17_20107773_T->C 17 20107773 20107773 T C snp 1788.77 0/1 99 163 87 76 0.47 exonic rs2703805 SPECC1 AU synonymous SNV NM_001033554 exon2 c.T168C p.S56S 0.539936 0.7937 0.398201 0.4782 0.8089 Uncertain 17_20108184_C->G 17 20108184 20108184 C G snp 2147.77 0/1 99 153 65 88 0.58 exonic rs9908032 SPECC1 AU nonsynonymous SNV NM_001033554 exon2 c.C579G p.S193R 0.113618 0.0942 0.127633 0.1182 0.1063 0.04 T 1.0 P -0.961 T 1.0 D 0.999 D Pathogenic 17_20108239_A->T 17 20108239 20108239 A T snp 4799.77 1/1 99 170 1 169 0.99 exonic rs2703806 SPECC1 AU nonsynonymous SNV NM_001033554 exon2 c.A634T p.M212L 0.819289 0.9861 0.689835 0.6741 0.9898 1 T 0.000 P -0.902 T 0.0 T 0.0 T Pathogenic 17_20109189_C->T 17 20109189 20109189 C T snp 492.77 0/1 99 32 15 17 0.53 exonic rs2703807 SPECC1 AU synonymous SNV NM_001033554 exon2 c.C1584T p.N528N 0.522764 0.7927 0.380493 0.4747 0.8070 Uncertain 17_20160925_C->T 17 20160925 20160925 C T snp 3086.77 0/1 99 246 118 128 0.52 splicing rs3751979 SPECC1 AU NM_001033555 exon9 c.101411+5C>T 0.251398 0.1012 0.279179 0.1892 0.1095 Pathogenic 17_20163529_A->G 17 20163529 20163529 A G snp 2029.77 1/1 99 73 0 73 1.0 exonic rs2703791 SPECC1 AU synonymous SNV NM_001033555 exon10 c.A2619G p.A873A 0.819289 0.9861 0.689605 0.6741 0.9897 Uncertain 17_20163616_C->T 17 20163616 20163616 C T snp 1017.77 0/1 99 96 50 46 0.48 intronic rs11868429 SPECC1 AU NM_001033555 exon10 c.104098+9C>T 0.242612 0.1012 0.271490 0.1858 0.1093 Uncertain 17_20209474_C->T 17 20209474 20209474 C T snp 1692.77 1/1 99 62 0 62 1.0 intronic rs2120282 SPECC1 AU NM_001033555 exon12 c.149886+79C>T 0.81889 0.9861 0.6761 0.9897 Uncertain 17_20254598_A->G 17 20254598 20254598 A G snp 1603.77 0/1 99 164 88 76 0.46 ncRNA_exonic rs143042302 CCDC144CP AU 0.250799 0.1012 Uncertain 17_20254786_T->C 17 20254786 20254786 T C snp 273.77 1/1 30 33 0 33 1.0 ncRNA_intronic rs2649256 CCDC144CP AU 0.747204 0.9772 Uncertain 17_20261101_A->G 17 20261101 20261101 A G snp 746.77 0/1 99 53 25 28 0.53 ncRNA_intronic rs111285254 CCDC144CP AU 0.521565 0.7857 Uncertain 17_20297545_T->G 17 20297545 20297545 T G snp 45.77 0/1 74 49 37 12 0.24 ncRNA_intronic rs3874846 CCDC144CP AU 0.473243 0.2093 0.1766 0.0623 Uncertain 17_20355058_T->G 17 20355058 20355058 T G snp 139.77 0/1 99 13 5 8 0.62 intronic rs149394454 LGALS9B AU NM_001042685 exon3 c.1822-49T>G 0.770567 0.5675 0.4442 0.3488 Uncertain 17_20361768_G->A 17 20361768 20361768 G A snp 153.77 0/1 99 19 10 9 0.47 intronic rs202049390 LGALS9B AU NM_001042685 exon9 c.8412+71G>A Uncertain 17_20370735_T->C 17 20370735 20370735 T C snp 97.28 1/1 9 7 0 7 1.0 intronic rs4985833 LGALS9B AU NM_001042685 exon11 c.17459-9T>C 0.953075 0.8185 0.9098 0.5645 Uncertain 17_20370767_G->C 17 20370767 20370767 G C snp 315.78 1/1 24 15 0 15 1.0 exonic rs4985834 LGALS9B AU nonsynonymous SNV NM_001042685 exon1 c.C17G p.S6C 0.807708 0.5913 0.7878 0.3036 0.13 T 0.0 P -0.940 T 0.0 T 0.001 T Pathogenic 17_20370796_T->C 17 20370796 20370796 T C snp 398.77 1/1 30 22 1 21 0.95 UTR5 rs28699183 LGALS9B AU 0.8752 0.6538 0.8371 0.3348 Uncertain 17_20370806_G->A 17 20370806 20370806 G A snp 402.77 1/1 30 23 1 22 0.96 UTR5 rs8080001 LGALS9B AU 0.846645 0.6458 0.6766 0.3064 Uncertain 17_20435927_C->G 17 20435927 20435927 C G snp 159.9 1/1 15 5 0 5 1.0 intergenic rs200997592 KRT16P3 AU Uncertain 17_20436054_-->AGA 17 20436054 20436054 - AGA indel 530.74 1/1 30 10 0 10 1.0 intergenic rs530922061 KRT16P3 AU Uncertain 17_20459595_A->G 17 20459595 20459595 A G snp 547.77 0/1 99 37 16 21 0.57 intergenic rs57570943 KRT16P3 AU 0.312899 0.3829 Uncertain 17_20492807_C->G 17 20492807 20492807 C G snp 442.77 0/1 99 51 33 18 0.35 intergenic rs199914815 CDRT15L2 AU Uncertain 17_20492893_C->T 17 20492893 20492893 C T snp 438.77 0/1 99 188 150 38 0.2 intergenic rs113834250 CDRT15L2 AU Uncertain 17_20492954_C->T 17 20492954 20492954 C T snp 877.77 0/1 99 249 188 61 0.24 intergenic rs367956889 CDRT15L2 AU Uncertain 17_20768587_C->A 17 20768587 20768587 C A snp 137.77 0/1 99 11 5 6 0.55 UTR3 rs62066972 CCDC144NL AU Uncertain 17_20768601_C->T 17 20768601 20768601 C T snp 136.77 0/1 99 21 13 8 0.38 UTR3 rs62066973 CCDC144NL AU Uncertain 17_20768691_C->T 17 20768691 20768691 C T snp 81.77 0/1 99 161 133 28 0.17 UTR3 rs75640454 CCDC144NL AU 0.1222 0.1158 Uncertain 17_20768692_A->G 17 20768692 20768692 A G snp 93.77 0/1 99 165 140 25 0.15 UTR3 rs4629022 CCDC144NL AU 0.3713 0.4199 Uncertain 17_20768730_A->G 17 20768730 20768730 A G snp 186.77 0/1 99 219 187 32 0.15 exonic rs4605228 CCDC144NL AU stoploss NM_001004306 exon4 c.T664C p.X222Q 0.0101837 0.0532 0.0245 0.0 P Uncertain 17_20768744_G->T 17 20768744 20768744 G T snp 191.77 0/1 99 229 199 30 0.13 exonic rs62066974 CCDC144NL AU nonsynonymous SNV NM_001004306 exon4 c.C650A p.S217Y 0.0109 0.0067 0 D 0.0 P -0.990 T 0.002 T 0.0 T Pathogenic 17_20768757_T->C 17 20768757 20768757 T C snp 136.77 0/1 99 247 221 26 0.11 exonic rs62066975 CCDC144NL AU nonsynonymous SNV NM_001004306 exon4 c.A637G p.K213E 0.0009 0.0006 0 D 1 N -0.993 T 0.002 T 0.001 T Pathogenic 17_20768761_C->T 17 20768761 20768761 C T snp 54.77 0/1 83 250 226 24 0.1 exonic rs770600634 CCDC144NL AU synonymous SNV NM_001004306 exon4 c.G633A p.K211K 1.653e-05 0 Uncertain 17_20768762_T->C 17 20768762 20768762 T C snp 101.77 0/1 99 250 227 23 0.09 exonic rs149760777 CCDC144NL AU nonsynonymous SNV NM_001004306 exon4 c.A632G p.K211R 0.00658946 0.001615 0.0027 0 0.99 T 1 N -0.977 T 0.003 T 0.002 T Pathogenic 17_20768788_G->T 17 20768788 20768788 G T snp 387.77 0/1 99 248 208 40 0.16 exonic rs78365129 CCDC144NL AU nonsynonymous SNV NM_001004306 exon4 c.C606A p.H202Q 0.0264 0.0207 0 D 1 N -1.002 T 0.597 T 0.402 P Pathogenic 17_20768803_C->T 17 20768803 20768803 C T snp 474.77 0/1 99 248 201 47 0.19 exonic rs76135364 CCDC144NL AU synonymous SNV NM_001004306 exon4 c.G591A p.E197E 0.0472 0.0399 Uncertain 17_20768816_C->T 17 20768816 20768816 C T snp 442.77 0/1 99 240 188 52 0.22 exonic rs73298040 CCDC144NL AU nonsynonymous SNV NM_001004306 exon4 c.G578A p.C193Y 0.0843 0.0616 0 D 1 N -1.019 T 0.782 T 0.588 P Pathogenic 17_20768850_G->T 17 20768850 20768850 G T snp 370.77 0/1 99 167 131 36 0.22 intronic rs114103783 CCDC144NL AU NM_001004306 exon1 c.95+28G>T 0.1509 0.0995 Uncertain 17_20768867_A->C 17 20768867 20768867 A C snp 719.77 0/1 99 139 86 53 0.38 intronic rs9906896 CCDC144NL AU NM_001004306 exon1 c.95+45A>C 0.0461262 0.4861 0.4894 Uncertain 17_20768912_C->G 17 20768912 20768912 C G snp 31.77 0/1 60 65 58 7 0.11 intronic rs186155723 CCDC144NL AU NM_001004306 exon1 c.95+90C>G Uncertain 17_20768929_AT->- 17 20768929 20768930 AT - indel 521.73 0/1 99 36 16 20 0.56 intronic rs141057464 CCDC144NL AU NM_001004306 exon1 c.95+107_95+108delAT Uncertain 17_20768931_A->G 17 20768931 20768931 A G snp 330.77 0/1 99 31 16 15 0.48 intronic rs76382049 CCDC144NL AU NM_001004306 exon1 c.95+109A>G Uncertain 17_20768950_G->A 17 20768950 20768950 G A snp 92.77 0/1 99 18 13 5 0.28 intronic rs75319658 CCDC144NL AU NM_001004306 exon1 c.95+128G>A Uncertain 17_20799119_A->G 17 20799119 20799119 A G snp 705.77 0/1 99 70 42 28 0.4 exonic rs2279263 CCDC144NL AU nonsynonymous SNV NM_001004306 exon1 c.T215C p.L72P 0.539736 0.5258 0.4889 0.4784 1 T 0.0 P -0.956 T 0.0 T 0.0 T Pathogenic 17_20799329_G->A 17 20799329 20799329 G A snp 163.77 0/1 99 20 13 7 0.35 exonic rs138436312 CCDC144NL AU nonsynonymous SNV NM_001004306 exon1 c.C5T p.A2V 0.00519169 0.0248 0.0020 0.0198 0.03 T 1 N -1.051 T 0.988 D 0.866 D Pathogenic 17_20907710_C->T 17 20907710 20907710 C T snp 1010.77 0/1 99 82 41 41 0.5 intronic rs147231893 USP22 AU NM_015276 exon2 c.1321+46C>T 0.00179712 0.0089 0.0010 0.0129 Uncertain 17_21156530_-->C 17 21156530 21156530 - C indel 2036.73 1/1 99 53 0 53 1.0 exonic rs201190568 NATD1 AU unknown 1 1 0.996719 1 . Uncertain 17_21194658_-->ACAACACAACACAACACAAC 17 21194658 21194658 - ACAACACAACACAACACAAC indel 3448.73 1/1 48 18 0 18 1.0 intronic MAP2K3 AU NM_145109 exon1 c.49+6377insACAACACAACACAACACAAC Uncertain 17_21194690_C->T 17 21194690 21194690 C T snp 34.77 0/1 63 69 62 7 0.1 intronic rs75133351 MAP2K3 AU NM_145109 exon1 c.49+6409C>T Uncertain 17_21194769_C->T 17 21194769 21194769 C T snp 2151.77 0/1 99 239 135 104 0.44 intronic rs72840055 MAP2K3 AU NM_145109 exon1 c.49+6488C>T 0.489816 0.4792 0.4921 0.4925 Uncertain 17_21194771_A->T 17 21194771 21194771 A T snp 2181.77 0/1 99 244 138 106 0.43 intronic rs114473529 MAP2K3 AU NM_145109 exon1 c.49+6490A>T 0.391773 0.377 0.3836 0.3692 Uncertain 17_21194785_T->C 17 21194785 21194785 T C snp 2227.77 0/1 99 246 134 112 0.46 intronic rs72840057 MAP2K3 AU NM_145109 exon1 c.49+6504T>C 0.4874 0.4925 Uncertain 17_21194820_G->A 17 21194820 21194820 G A snp 2146.77 0/1 99 247 151 96 0.39 intronic rs66503560 MAP2K3 AU NM_145109 exon1 c.49+6539G>A 0.4845 0.5 Uncertain 17_21194843_T->C 17 21194843 21194843 T C snp 1763.77 0/1 99 221 145 76 0.34 intronic rs75693966 MAP2K3 AU NM_145109 exon1 c.49+6562T>C 0.4893 0.5 Uncertain 17_21194852_G->A 17 21194852 21194852 G A snp 1640.77 0/1 99 205 141 64 0.31 intronic rs72840058 MAP2K3 AU NM_145109 exon1 c.49+6571G>A 0.4884 0.5 Uncertain 17_21194859_G->A 17 21194859 21194859 G A snp 1403.77 0/1 99 190 133 57 0.3 intronic rs62056394 MAP2K3 AU NM_145109 exon1 c.49+6578G>A 0.4864 0.5 Uncertain 17_21195039_G->A 17 21195039 21195039 G A snp 43.77 0/1 70 4 2 2 0.5 intronic rs73309659 MAP2K3 AU NM_145109 exon2 c.13492-6685G>A Uncertain 17_21198863_T->A 17 21198863 21198863 T A snp 31.77 0/1 60 8 5 3 0.38 intronic rs939166 MAP2K3 AU NM_145109 exon2 c.13492-2861T>A 0.000399361 Uncertain 17_21198877_G->A 17 21198877 21198877 G A snp 136.77 0/1 99 14 8 6 0.43 intronic rs2363223 MAP2K3 AU NM_145109 exon2 c.13492-2847G>A Uncertain 17_21198887_A->G 17 21198887 21198887 A G snp 253.77 0/1 99 18 9 9 0.5 intronic rs2363222 MAP2K3 AU NM_145109 exon2 c.13492-2837A>G Uncertain 17_21198972_T->C 17 21198972 21198972 T C snp 2201.77 1/1 99 77 0 77 1.0 intronic rs2363221 MAP2K3 AU NM_145109 exon2 c.13492-2752T>C 0.36901 0.2163 0.6049 0.5203 Uncertain 17_21198978_C->T 17 21198978 21198978 C T snp 1080.77 0/1 99 82 39 43 0.52 intronic rs2363220 MAP2K3 AU NM_145109 exon2 c.13492-2746C>T 0.5001 0.5 Uncertain 17_21199022_A->T 17 21199022 21199022 A T snp 1137.77 0/1 99 126 71 55 0.44 intronic rs35804189 MAP2K3 AU NM_145109 exon2 c.13492-2702A>T 0.4210 0.4167 Uncertain 17_21199037_G->A 17 21199037 21199037 G A snp 2043.77 0/1 99 134 43 91 0.68 intronic rs2885719 MAP2K3 AU NM_145109 exon2 c.13492-2687G>A 0.5002 0.5 Uncertain 17_21199051_T->C 17 21199051 21199051 T C snp 633.77 0/1 99 126 94 32 0.25 intronic rs56020453 MAP2K3 AU NM_145109 exon2 c.13492-2673T>C 0.2797 0.1875 0 D 1.000 N -1.081 T Uncertain 17_21199083_T->A 17 21199083 21199083 T A snp 1165.77 0/1 99 142 78 64 0.45 intronic rs4442881 MAP2K3 AU NM_145109 exon2 c.13492-2641T>A 0.4861 0.475 1 N Uncertain 17_21199106_GG->- 17 21199106 21199107 GG - indel 2841.73 ./1 99 129 12 117 0.91 intronic rs549548300 MAP2K3 AU NM_145109 exon2 c.13492-2618_13492-2617delGG 0.0935 0.1139 Uncertain 17_21199106_G->- 17 21199106 21199106 G - indel 2841.73 ./1 99 129 12 117 0.91 intronic rs3035435 MAP2K3 AU NM_145109 exon2 c.13492-2618delG 0.4075 0.3861 Uncertain 17_21199111_G->A 17 21199111 21199111 G A snp 569.77 0/1 99 123 94 29 0.24 intronic rs55963016 MAP2K3 AU NM_145109 exon2 c.13492-2613G>A 0.307708 0.2153 0.2758 0.1899 Uncertain 17_21199236_C->T 17 21199236 21199236 C T snp 719.77 0/1 99 50 24 26 0.52 intronic rs2363219 MAP2K3 AU NM_145109 exon2 c.13492-2488C>T Uncertain 17_21199275_G->T 17 21199275 21199275 G T snp 456.77 0/1 99 41 23 18 0.44 intronic rs2363218 MAP2K3 AU NM_145109 exon2 c.13492-2449G>T 0.0107827 Uncertain 17_21199277_G->A 17 21199277 21199277 G A snp 496.77 0/1 99 43 23 20 0.47 intronic rs2363217 MAP2K3 AU NM_145109 exon2 c.13492-2447G>A 0.0107827 Uncertain 17_21199376_-->T 17 21199376 21199376 - T indel 423.73 0/1 99 83 51 32 0.39 intronic rs5819736 MAP2K3 AU NM_145109 exon2 c.13492-2348insT 0.4866 0.4853 Uncertain 17_21199390_C->T 17 21199390 21199390 C T snp 624.77 0/1 99 89 55 34 0.38 intronic rs4997717 MAP2K3 AU NM_145109 exon2 c.13492-2334C>T 0.4720 0.4855 Uncertain 17_21199403_C->T 17 21199403 21199403 C T snp 861.77 0/1 99 98 58 40 0.41 intronic rs4997718 MAP2K3 AU NM_145109 exon2 c.13492-2321C>T 0.4722 0.4853 0 D 1.000 N -0.965 T Uncertain 17_21199499_G->A 17 21199499 21199499 G A snp 513.77 0/1 99 45 21 24 0.53 intronic rs2885718 MAP2K3 AU NM_145109 exon2 c.13492-2225G>A 0.5 0.5 Uncertain 17_21199515_C->T 17 21199515 21199515 C T snp 235.77 0/1 99 37 26 11 0.3 intronic rs5025581 MAP2K3 AU NM_145109 exon2 c.13492-2209C>T 0.4244 0.4225 Uncertain 17_21201550_T->C 17 21201550 21201550 T C snp 215.77 0/1 99 18 11 7 0.39 intronic rs8072228 MAP2K3 AU NM_145109 exon2 c.13492-174T>C Uncertain 17_21201579_C->T 17 21201579 21201579 C T snp 289.77 0/1 99 38 27 11 0.29 intronic rs11651154 MAP2K3 AU NM_145109 exon2 c.13492-145C>T Uncertain 17_21201719_T->C 17 21201719 21201719 T C snp 3432.77 0/1 99 250 120 130 0.52 splicing rs8076154 MAP2K3 AU NM_145109 exon2 c.13492-5T>C 0.5 0.5 0.68 T 1 N -0.955 T Pathogenic 17_21201851_A->G 17 21201851 21201851 A G snp 2946.77 0/1 99 220 100 120 0.55 intronic rs8072386 MAP2K3 AU NM_145109 exon2 c.13559+60A>G 0.000599042 Uncertain 17_21201884_T->C 17 21201884 21201884 T C snp 802.77 0/1 99 138 101 37 0.27 intronic rs2305875 MAP2K3 AU NM_145109 exon2 c.13559+93T>C Uncertain 17_21201890_A->G 17 21201890 21201890 A G snp 1783.77 0/1 99 119 56 63 0.53 intronic rs8072401 MAP2K3 AU NM_145109 exon2 c.13559+99A>G Uncertain 17_21201894_C->T 17 21201894 21201894 C T snp 1628.77 0/1 99 105 47 58 0.55 intronic rs8071865 MAP2K3 AU NM_145109 exon2 c.13559+103C>T 0.000199681 0.001 Uncertain 17_21201907_G->A 17 21201907 21201907 G A snp 540.77 0/1 99 82 61 21 0.26 intronic rs2305874 MAP2K3 AU NM_145109 exon2 c.13559+116G>A Uncertain 17_21201934_T->C 17 21201934 21201934 T C snp 739.77 0/1 99 36 15 21 0.58 intronic rs4986015 MAP2K3 AU NM_145109 exon2 c.13559+143T>C 0.0483227 0.001 Uncertain 17_21201981_A->G 17 21201981 21201981 A G snp 64.77 0/1 67 5 2 3 0.6 intronic rs8072533 MAP2K3 AU NM_145109 exon2 c.13559+190A>G 0.000199681 0.001 Uncertain 17_21202015_G->A 17 21202015 21202015 G A snp 434.77 0/1 99 26 11 15 0.58 intronic rs34956489 MAP2K3 AU NM_145109 exon3 c.13957-174G>A 0.000599042 Uncertain 17_21202056_G->A 17 21202056 21202056 G A snp 1344.77 0/1 99 82 38 44 0.54 intronic rs34676150 MAP2K3 AU NM_145109 exon3 c.13957-133G>A Uncertain 17_21202063_G->C 17 21202063 21202063 G C snp 1404.77 0/1 99 94 45 49 0.52 intronic rs77850849 MAP2K3 AU NM_145109 exon3 c.13957-126G>C Uncertain 17_21202067_A->G 17 21202067 21202067 A G snp 1660.77 0/1 99 106 47 59 0.56 intronic rs76764437 MAP2K3 AU NM_145109 exon3 c.13957-122A>G Uncertain 17_21202078_G->A 17 21202078 21202078 G A snp 2146.77 0/1 99 142 65 77 0.54 intronic rs35477472 MAP2K3 AU NM_145109 exon3 c.13957-111G>A Uncertain 17_21202102_C->T 17 21202102 21202102 C T snp 3258.77 0/1 99 227 101 126 0.56 intronic rs35701021 MAP2K3 AU NM_145109 exon3 c.13957-87C>T 0.0061901 0.006 Uncertain 17_21202123_A->G 17 21202123 21202123 A G snp 1019.77 0/1 99 250 200 50 0.2 intronic rs68151103 MAP2K3 AU NM_145109 exon3 c.13957-66A>G 0.000599042 0.001 Uncertain 17_21202191_C->A 17 21202191 21202191 C A snp 1408.77 0/1 99 250 179 71 0.28 exonic rs33911218 MAP2K3 AU nonsynonymous SNV NM_145109 exon3 c.C118A p.P40T 0.000199681 0.5000 0.5 0.15 T 1 D -0.940 T 0.734 T 0.326 P Pathogenic 17_21202237_G->C 17 21202237 21202237 G C snp 3476.77 0/1 99 250 129 121 0.48 exonic rs36047035 MAP2K3 AU nonsynonymous SNV NM_145109 exon3 c.G164C p.R55T 0.000199681 0.5 0.5 0.1 T 0.970 D -0.968 T 0.087 T 0.03 T Pathogenic 17_21202272_C->G 17 21202272 21202272 C G snp 3055.77 0/1 99 245 126 119 0.49 intronic rs34880480 MAP2K3 AU NM_145109 exon3 c.14006+34C>G 0.00119808 0.004 0.5000 0.5 Uncertain 17_21202310_G->A 17 21202310 21202310 G A snp 2606.77 0/1 99 224 118 106 0.47 intronic rs77343934 MAP2K3 AU NM_145109 exon3 c.14006+72G>A Uncertain 17_21202311_C->T 17 21202311 21202311 C T snp 2537.77 0/1 99 223 119 104 0.47 intronic rs75476957 MAP2K3 AU NM_145109 exon3 c.14006+73C>T Uncertain 17_21202316_T->C 17 21202316 21202316 T C snp 2646.77 0/1 99 223 117 106 0.48 intronic rs78463537 MAP2K3 AU NM_145109 exon3 c.14006+78T>C Uncertain 17_21202318_G->T 17 21202318 21202318 G T snp 2571.77 0/1 99 222 118 104 0.47 intronic rs77591777 MAP2K3 AU NM_145109 exon3 c.14006+80G>T Uncertain 17_21202370_G->A 17 21202370 21202370 G A snp 1410.77 0/1 99 88 45 43 0.49 intronic rs34794731 MAP2K3 AU NM_145109 exon3 c.14006+132G>A Uncertain 17_21202383_G->- 17 21202383 21202383 G - indel 1130.73 0/1 99 65 31 34 0.52 intronic rs35763451 MAP2K3 AU NM_145109 exon3 c.14006+145delG Uncertain 17_21202435_A->T 17 21202435 21202435 A T snp 249.77 0/1 99 15 7 8 0.53 intronic rs35935588 MAP2K3 AU NM_145109 exon3 c.14006+197A>T Uncertain 17_21202440_C->T 17 21202440 21202440 C T snp 132.77 0/1 99 12 7 5 0.42 intronic rs12103593 MAP2K3 AU NM_145109 exon3 c.14006+202C>T 0.00539137 0.001 Uncertain 17_21203673_T->A 17 21203673 21203673 T A snp 146.77 0/1 66 8 3 5 0.63 intronic rs79762169 MAP2K3 AU NM_145109 exon4 c.15624-183T>A Uncertain 17_21203675_G->- 17 21203675 21203675 G - indel 165.73 0/1 99 8 3 5 0.63 intronic rs67627398 MAP2K3 AU NM_145109 exon4 c.15624-181delG Uncertain 17_21203689_G->A 17 21203689 21203689 G A snp 119.77 0/1 99 16 11 5 0.31 intronic rs71207220 MAP2K3 AU NM_145109 exon4 c.15624-167G>A Uncertain 17_21203711_C->T 17 21203711 21203711 C T snp 323.77 0/1 99 29 16 13 0.45 intronic rs73311537 MAP2K3 AU NM_145109 exon4 c.15624-145C>T Uncertain 17_21203820_G->C 17 21203820 21203820 G C snp 1686.77 0/1 99 177 100 77 0.44 intronic rs78304829 MAP2K3 AU NM_145109 exon4 c.15624-36G>C 0.4996 0.4987 Uncertain 17_21203825_C->G 17 21203825 21203825 C G snp 1856.77 0/1 99 183 103 80 0.44 intronic rs75854955 MAP2K3 AU NM_145109 exon4 c.15624-31C>G 0.4995 0.4990 Uncertain 17_21203893_T->C 17 21203893 21203893 T C snp 2349.77 0/1 99 211 114 97 0.46 exonic rs34105301 MAP2K3 AU nonsynonymous SNV NM_145109 exon4 c.T202C p.S68P 0.4995 0.4990 0.05 T 1 N -1.097 T 0.266 T 0.056 T Pathogenic 17_21203907_T->C 17 21203907 21203907 T C snp 754.77 0/1 99 208 167 41 0.2 exonic rs73311539 MAP2K3 AU synonymous SNV NM_145109 exon4 c.T216C p.R72R 0.2230 0.2473 Uncertain 17_21203934_G->A 17 21203934 21203934 G A snp 1936.77 0/1 99 174 93 81 0.47 exonic rs62057672 MAP2K3 AU synonymous SNV NM_145109 exon4 c.G243A p.V81V 0.4966 0.4949 Uncertain 17_21203941_G->A 17 21203941 21203941 G A snp 589.77 0/1 99 161 124 37 0.23 exonic rs2305873 MAP2K3 AU nonsynonymous SNV NM_145109 exon4 c.G250A p.A84T 0.2022 0.2109 0.4 T 0.999 D -1.015 T 0.867 T 0.338 P Pathogenic 17_21203949_C->T 17 21203949 21203949 C T snp 1575.77 0/1 99 152 82 70 0.46 exonic rs62057673 MAP2K3 AU synonymous SNV NM_145109 exon4 c.C258T p.S86S 0.4970 0.4958 Uncertain 17_21203964_C->G 17 21203964 21203964 C G snp 591.77 0/1 99 122 90 32 0.26 exonic rs34458870 MAP2K3 AU synonymous SNV NM_145109 exon4 c.C273G p.A91A 0.1024 0.1226 Uncertain 17_21203998_G->A 17 21203998 21203998 G A snp 1034.77 0/1 99 76 38 38 0.5 intronic rs62057674 MAP2K3 AU NM_145109 exon4 c.15738+28G>A 0.4988 0.4986 Uncertain 17_21204067_G->A 17 21204067 21204067 G A snp 391.77 0/1 99 22 10 12 0.55 intronic rs73982730 MAP2K3 AU NM_145109 exon4 c.15738+97G>A Uncertain 17_21204074_G->A 17 21204074 21204074 G A snp 350.77 0/1 99 23 11 12 0.52 intronic rs73982732 MAP2K3 AU NM_145109 exon4 c.15738+104G>A Uncertain 17_21204153_C->T 17 21204153 21204153 C T snp 1074.77 0/1 99 104 63 41 0.39 intronic rs66883103 MAP2K3 AU NM_145109 exon5 c.15953-32C>T 0.4998 0.4980 Uncertain 17_21204187_G->T 17 21204187 21204187 G T snp 1798.77 0/1 99 189 109 80 0.42 exonic rs56067280 MAP2K3 AU nonsynonymous SNV NM_145109 exon5 c.G281T p.R94L 0.4998 0.4986 0.01 T 1.000 P -1.001 T 0.982 D 0.671 D Pathogenic 17_21204192_C->T 17 21204192 21204192 C T snp 2015.77 0/1 99 200 113 87 0.43 exonic rs56216806 MAP2K3 AU nonsynonymous SNV NM_145109 exon5 c.C286T p.R96W 0.4998 0.4986 0.01 T 1.000 D -0.944 T 1.0 D 0.994 D Pathogenic 17_21204210_C->T 17 21204210 21204210 C T snp 2775.77 0/1 99 248 135 113 0.46 exonic rs55796947 MAP2K3 AU stopgain NM_145109 exon5 c.C304T p.Q102X 0.4997 0.4984 0.74 T 1 A Pathogenic 17_21204257_G->A 17 21204257 21204257 G A snp 3325.77 0/1 99 250 129 121 0.48 exonic rs56166328 MAP2K3 AU synonymous SNV NM_145109 exon5 c.G351A p.T117T 0.4999 0.4991 Uncertain 17_21204266_T->C 17 21204266 21204266 T C snp 8054.77 1/1 99 250 0 250 1.0 exonic rs2230435 MAP2K3 AU synonymous SNV NM_145109 exon5 c.T360C p.C120C 0.306909 0.2183 0.524220 0.5397 0.5230 Uncertain 17_21204290_G->C 17 21204290 21204290 G C snp 654.77 0/1 99 250 214 36 0.14 exonic rs2305872 MAP2K3 AU synonymous SNV NM_145109 exon5 c.G384C p.G128G 0.2229 0.2179 Uncertain 17_21204308_G->T 17 21204308 21204308 G T snp 3098.77 0/1 99 250 141 109 0.44 splicing rs55777930 MAP2K3 AU NM_145109 exon5 c.16073+3G>T 0.4998 0.4998 Pathogenic 17_21204315_T->C 17 21204315 21204315 T C snp 2746.77 0/1 99 247 148 99 0.4 intronic rs77379486 MAP2K3 AU NM_145109 exon5 c.16073+10T>C 0.4434 0.4363 Uncertain 17_21204316_G->A 17 21204316 21204316 G A snp 1529.77 0/1 99 249 189 60 0.24 intronic rs35769673 MAP2K3 AU NM_145109 exon5 c.16073+11G>A 5.535e-05 0 Uncertain 17_21204318_A->G 17 21204318 21204318 A G snp 2822.77 0/1 99 250 151 99 0.4 intronic rs74869330 MAP2K3 AU NM_145109 exon5 c.16073+13A>G 0.1216 0.1202 Uncertain 17_21204428_G->T 17 21204428 21204428 G T snp 1097.77 0/1 99 187 133 54 0.29 intronic rs36191822 MAP2K3 AU NM_145109 exon5 c.16073+123G>T Uncertain 17_21204437_T->C 17 21204437 21204437 T C snp 1872.77 0/1 99 153 78 75 0.49 intronic rs76549047 MAP2K3 AU NM_145109 exon5 c.16073+132T>C Uncertain 17_21204441_T->C 17 21204441 21204441 T C snp 1802.77 0/1 99 140 70 70 0.5 intronic rs78162711 MAP2K3 AU NM_145109 exon5 c.16073+136T>C Uncertain 17_21205354_G->A 17 21205354 21205354 G A snp 154.77 0/1 99 20 14 6 0.3 intronic rs73982738 MAP2K3 AU NM_145109 exon6 c.17222-100G>A Uncertain 17_21205355_A->G 17 21205355 21205355 A G snp 173.77 0/1 99 20 14 6 0.3 intronic rs73982739 MAP2K3 AU NM_145109 exon6 c.17222-99A>G Uncertain 17_21205396_C->A 17 21205396 21205396 C A snp 753.77 0/1 99 82 53 29 0.35 intronic rs75974715 MAP2K3 AU NM_145109 exon6 c.17222-58C>A Uncertain 17_21205406_A->G 17 21205406 21205406 A G snp 1045.77 0/1 99 99 59 40 0.4 intronic rs72831582 MAP2K3 AU NM_145109 exon6 c.17222-48A>G 0.5000 0.5 Uncertain 17_21205460_C->T 17 21205460 21205460 C T snp 2175.77 0/1 99 208 116 92 0.44 exonic rs62057721 MAP2K3 AU synonymous SNV NM_145109 exon6 c.C405T p.D135D 0.4993 0.4993 Uncertain 17_21205593_GC->- 17 21205593 21205594 GC - indel 2540.73 0/1 99 140 72 68 0.49 intronic rs66644302 MAP2K3 AU NM_145109 exon6 c.17339+22_17339+23delGC 0.498403 0.4999 0.4999 Uncertain 17_21205604_T->C 17 21205604 21205604 T C snp 1661.77 0/1 99 131 63 68 0.52 intronic rs62057722 MAP2K3 AU NM_145109 exon6 c.17339+33T>C 0.4999 0.4998 Uncertain 17_21205606_G->C 17 21205606 21205606 G C snp 1403.77 0/1 99 127 65 62 0.49 intronic rs2305871 MAP2K3 AU NM_145109 exon6 c.17339+35G>C 0.251597 0.2173 0.2007 0.1953 Uncertain 17_21205642_T->G 17 21205642 21205642 T G snp 1204.77 0/1 99 63 24 39 0.62 intronic rs62057723 MAP2K3 AU NM_145109 exon6 c.17339+71T>G Uncertain 17_21205654_A->G 17 21205654 21205654 A G snp 827.77 0/1 99 44 18 26 0.59 intronic rs72831585 MAP2K3 AU NM_145109 exon6 c.17339+83A>G Uncertain 17_21205655_T->A 17 21205655 21205655 T A snp 805.77 0/1 99 44 18 26 0.59 intronic rs76165275 MAP2K3 AU NM_145109 exon6 c.17339+84T>A Uncertain 17_21206229_T->C 17 21206229 21206229 T C snp 40.77 0/1 69 6 4 2 0.33 intronic rs72838540 MAP2K3 AU NM_145109 exon7 c.18262-265T>C Uncertain 17_21206230_G->C 17 21206230 21206230 G C snp 40.77 0/1 69 6 4 2 0.33 intronic rs72838542 MAP2K3 AU NM_145109 exon7 c.18262-264G>C Uncertain 17_21206249_C->G 17 21206249 21206249 C G snp 110.77 0/1 99 11 7 4 0.36 intronic rs73982748 MAP2K3 AU NM_145109 exon7 c.18262-245C>G Uncertain 17_21206269_G->A 17 21206269 21206269 G A snp 284.77 0/1 99 25 14 11 0.44 intronic rs73982750 MAP2K3 AU NM_145109 exon7 c.18262-225G>A Uncertain 17_21206294_C->T 17 21206294 21206294 C T snp 518.77 0/1 99 47 27 20 0.43 intronic rs73311581 MAP2K3 AU NM_145109 exon7 c.18262-200C>T Uncertain 17_21206360_A->G 17 21206360 21206360 A G snp 1363.77 0/1 99 121 64 57 0.47 intronic rs67280439 MAP2K3 AU NM_145109 exon7 c.18262-134A>G 0.000199681 Uncertain 17_21206372_G->C 17 21206372 21206372 G C snp 1405.77 0/1 99 139 76 63 0.45 intronic rs72838545 MAP2K3 AU NM_145109 exon7 c.18262-122G>C Uncertain 17_21206385_C->T 17 21206385 21206385 C T snp 1372.77 0/1 99 150 82 68 0.45 intronic rs72838547 MAP2K3 AU NM_145109 exon7 c.18262-109C>T 0.00858626 Uncertain 17_21206444_A->G 17 21206444 21206444 A G snp 2253.77 0/1 99 244 144 100 0.41 intronic rs62057728 MAP2K3 AU NM_145109 exon7 c.18262-50A>G 0.00139776 0.5000 0.5001 Uncertain 17_21206556_C->T 17 21206556 21206556 C T snp 5224.77 1/1 99 200 0 200 1.0 intronic rs736103 MAP2K3 AU NM_145109 exon7 c.18314+10C>T 0.210663 0.2163 0.519606 0.5249 0.5236 Uncertain 17_21206616_G->A 17 21206616 21206616 G A snp 663.77 0/1 99 78 52 26 0.33 intronic rs57761454 MAP2K3 AU NM_145109 exon7 c.18314+70G>A 0.00239617 Uncertain 17_21206635_T->A 17 21206635 21206635 T A snp 365.77 0/1 99 46 32 14 0.3 intronic rs77285979 MAP2K3 AU NM_145109 exon7 c.18314+89T>A Uncertain 17_21206642_G->A 17 21206642 21206642 G A snp 212.77 0/1 99 35 24 11 0.31 intronic rs59259996 MAP2K3 AU NM_145109 exon7 c.18314+96G>A 0.00419329 0.0179 Uncertain 17_21206654_G->T 17 21206654 21206654 G T snp 172.77 0/1 99 28 19 9 0.32 intronic rs56821097 MAP2K3 AU NM_145109 exon7 c.18314+108G>T Uncertain 17_21207582_T->C 17 21207582 21207582 T C snp 416.77 0/1 99 22 9 13 0.59 intronic rs61142877 MAP2K3 AU NM_145109 exon8 c.19505-155T>C Uncertain 17_21207602_C->G 17 21207602 21207602 C G snp 856.77 0/1 99 44 18 26 0.59 intronic rs55677712 MAP2K3 AU NM_145109 exon8 c.19505-135C>G Uncertain 17_21207649_C->T 17 21207649 21207649 C T snp 1891.77 0/1 99 131 56 75 0.57 intronic rs56342308 MAP2K3 AU NM_145109 exon8 c.19505-88C>T Uncertain 17_21207813_T->G 17 21207813 21207813 T G snp 674.77 0/1 99 249 199 50 0.2 exonic rs74575904 MAP2K3 AU nonsynonymous SNV NM_145109 exon8 c.T644G p.L215W 0.2846 0.3280 0 D 1 D 0.047 D 1.0 D 1.0 D Pathogenic 17_21207834_C->T 17 21207834 21207834 C T snp 675.77 0/1 99 250 214 36 0.14 exonic rs58609466 MAP2K3 AU nonsynonymous SNV NM_145109 exon8 c.C665T p.T222M 0.2940 0.2946 0.01 T 1 D -1.151 T 1.0 D 1.0 D Pathogenic 17_21207835_G->A 17 21207835 21207835 G A snp 781.77 0/1 99 250 194 56 0.22 exonic rs76111309 MAP2K3 AU synonymous SNV NM_145109 exon8 c.G666A p.T222T 0.000199681 0.3622 0.4015 Uncertain 17_21207844_C->T 17 21207844 21207844 C T snp 751.77 0/1 99 247 205 42 0.17 exonic rs2230436 MAP2K3 AU synonymous SNV NM_145109 exon8 c.C675T p.A225A 0.4204 0.4168 Uncertain 17_21207909_G->A 17 21207909 21207909 G A snp 1652.77 0/1 99 169 100 69 0.41 intronic rs41301807 MAP2K3 AU NM_145109 exon8 c.19633+44G>A 0.3644 0.4801 Uncertain 17_21207916_A->G 17 21207916 21207916 A G snp 5037.77 1/1 99 151 0 151 1.0 intronic rs7209761 MAP2K3 AU NM_145109 exon8 c.19633+51A>G 0.64976 0.5754 0.709672 0.6664 0.6768 Uncertain 17_21207938_C->T 17 21207938 21207938 C T snp 376.77 0/1 99 94 73 21 0.22 intronic rs75147012 MAP2K3 AU NM_145109 exon8 c.19633+73C>T Uncertain 17_21207939_G->T 17 21207939 21207939 G T snp 109.77 0/1 99 89 80 9 0.1 intronic rs41309278 MAP2K3 AU NM_145109 exon8 c.19633+74G>T Uncertain 17_21207945_A->G 17 21207945 21207945 A G snp 1313.77 0/1 99 77 33 44 0.57 intronic rs9896440 MAP2K3 AU NM_145109 exon8 c.19633+80A>G Uncertain 17_21207982_G->A 17 21207982 21207982 G A snp 95.77 0/1 99 26 21 5 0.19 intronic rs76436552 MAP2K3 AU NM_145109 exon8 c.19633+117G>A 0.0109824 Uncertain 17_21207989_G->A 17 21207989 21207989 G A snp 370.77 0/1 99 17 6 11 0.65 intronic rs9893916 MAP2K3 AU NM_145109 exon8 c.19633+124G>A 0.0181709 Uncertain 17_21207992_G->A 17 21207992 21207992 G A snp 218.77 0/1 99 15 7 8 0.53 intronic rs9893917 MAP2K3 AU NM_145109 exon8 c.19633+127G>A Uncertain 17_21208203_C->A 17 21208203 21208203 C A snp 187.77 0/1 99 11 5 6 0.55 intronic rs28568964 MAP2K3 AU NM_145109 exon9 c.20130-159C>A Uncertain 17_21208221_G->A 17 21208221 21208221 G A snp 111.77 0/1 99 16 10 6 0.38 intronic rs7208462 MAP2K3 AU NM_145109 exon9 c.20130-141G>A Uncertain 17_21208292_T->C 17 21208292 21208292 T C snp 1131.77 0/1 99 168 122 46 0.27 intronic rs7214432 MAP2K3 AU NM_145109 exon9 c.20130-70T>C Uncertain 17_21208317_G->A 17 21208317 21208317 G A snp 4211.77 0/1 99 250 89 161 0.64 intronic rs4456559 MAP2K3 AU NM_145109 exon9 c.20130-45G>A 0.000399361 0.001 0.5000 0.5 Uncertain 17_21208347_C->A 17 21208347 21208347 C A snp 2993.77 0/1 99 250 132 118 0.47 intronic rs4559960 MAP2K3 AU NM_145109 exon9 c.20130-15C>A 0.000798722 0.004 0.5000 0.4999 Uncertain 17_21208349_C->G 17 21208349 21208349 C G snp 1872.77 0/1 99 250 169 81 0.32 intronic rs7209860 MAP2K3 AU NM_145109 exon9 c.20130-13C>G 0.4999 0.4987 Uncertain 17_21208413_C->T 17 21208413 21208413 C T snp 1881.77 0/1 99 250 164 86 0.34 exonic rs1657695 MAP2K3 AU synonymous SNV NM_145109 exon9 c.C747T p.S249S 0.4998 0.4995 Uncertain 17_21208449_G->T 17 21208449 21208449 G T snp 1760.77 0/1 99 243 158 85 0.35 intronic rs1657694 MAP2K3 AU NM_145109 exon9 c.20208+9G>T 0.4996 0.4983 Uncertain 17_21208456_A->G 17 21208456 21208456 A G snp 1835.77 0/1 99 240 159 81 0.34 intronic rs1657693 MAP2K3 AU NM_145109 exon9 c.20208+16A>G 0.4998 0.4990 Uncertain 17_21215434_-->C 17 21215434 21215434 - C indel 1886.73 0/1 99 119 55 64 0.54 intronic rs113634008 MAP2K3 AU NM_145109 exon10 c.27221-19insC 0.491534 0.4925 0.5 Uncertain 17_21215446_C->T 17 21215446 21215446 C T snp 2181.77 0/1 99 152 71 81 0.53 intronic rs62055363 MAP2K3 AU NM_145109 exon10 c.27221-7C>T 0.5000 0.5 Uncertain 17_21215483_C->T 17 21215483 21215483 C T snp 3022.77 0/1 99 250 133 117 0.47 exonic rs55935757 MAP2K3 AU synonymous SNV NM_145109 exon10 c.C804T p.Y268Y 0.00798722 0.0357 0.4935 0.5005 Uncertain 17_21215537_C->A 17 21215537 21215537 C A snp 3381.77 0/1 99 250 122 128 0.51 exonic rs55736474 MAP2K3 AU synonymous SNV NM_145109 exon10 c.C858A p.S286S 0.00219649 0.4999 0.4995 Uncertain 17_21215552_C->T 17 21215552 21215552 C T snp 3222.65 0/1 99 250 131 119 0.48 exonic rs56369732 MAP2K3 AU synonymous SNV NM_145109 exon10 c.C873T p.A291A 0.4999 0.5 Uncertain 17_21215557_G->A 17 21215557 21215557 G A snp 2990.77 0/1 99 250 136 114 0.46 exonic rs35206134 MAP2K3 AU nonsynonymous SNV NM_145109 exon10 c.G878A p.R293H 0.4999 0.5 0.09 T 0.991 N -0.952 T 0.991 D 0.836 D Pathogenic 17_21215637_G->A 17 21215637 21215637 G A snp 2664.77 0/1 99 245 138 107 0.44 intronic rs66486636 MAP2K3 AU NM_145109 exon10 c.27361+44G>A 0.4998 0.4998 Uncertain 17_21215643_A->G 17 21215643 21215643 A G snp 2665.77 0/1 99 241 135 106 0.44 intronic rs73302034 MAP2K3 AU NM_145109 exon10 c.27361+50A>G 0.4998 0.4998 Uncertain 17_21215682_G->A 17 21215682 21215682 G A snp 1766.77 0/1 99 194 116 78 0.4 intronic rs73302038 MAP2K3 AU NM_145109 exon10 c.27361+89G>A Uncertain 17_21215700_T->G 17 21215700 21215700 T G snp 1259.77 0/1 99 139 87 52 0.37 intronic rs73302043 MAP2K3 AU NM_145109 exon10 c.27361+107T>G Uncertain 17_21216608_T->C 17 21216608 21216608 T C snp 62.77 0/1 91 11 8 3 0.27 intronic rs1866005 MAP2K3 AU NM_145109 exon11 c.28571-195T>C Uncertain 17_21216609_G->A 17 21216609 21216609 G A snp 65.77 0/1 94 11 8 3 0.27 intronic rs4994552 MAP2K3 AU NM_145109 exon11 c.28571-194G>A Uncertain 17_21216661_C->T 17 21216661 21216661 C T snp 964.77 0/1 99 63 31 32 0.51 intronic rs4994551 MAP2K3 AU NM_145109 exon11 c.28571-142C>T Uncertain 17_21216664_A->G 17 21216664 21216664 A G snp 992.77 0/1 99 66 32 34 0.52 intronic rs4081986 MAP2K3 AU NM_145109 exon11 c.28571-139A>G Uncertain 17_21216686_C->A 17 21216686 21216686 C A snp 1290.77 0/1 99 101 51 50 0.5 intronic rs4994549 MAP2K3 AU NM_145109 exon11 c.28571-117C>A Uncertain 17_21216710_T->C 17 21216710 21216710 T C snp 1613.77 0/1 99 149 83 66 0.44 intronic rs4994548 MAP2K3 AU NM_145109 exon11 c.28571-93T>C Uncertain 17_21216758_-->CTTC 17 21216758 21216758 - CTTC indel 5686.73 0/1 99 248 144 104 0.42 intronic rs199962728 MAP2K3 AU NM_145109 exon11 c.28571-45insCTTC 0.477236 0.4983 0.4985 Uncertain 17_21216788_C->T 17 21216788 21216788 C T snp 2748.77 0/1 99 250 145 105 0.42 intronic rs1673840 MAP2K3 AU NM_145109 exon11 c.28571-15C>T 0.4998 0.4997 Uncertain 17_21216846_G->C 17 21216846 21216846 G C snp 2479.77 0/1 99 247 131 116 0.47 exonic rs1657688 MAP2K3 AU synonymous SNV NM_145109 exon11 c.G957C p.L319L 0.4999 0.4998 Uncertain 17_21216951_C->G 17 21216951 21216951 C G snp 969.77 0/1 99 65 32 33 0.51 intronic rs1673839 MAP2K3 AU NM_145109 exon11 c.28617+102C>G 0.000199681 0.4975 0.4976 Uncertain 17_21216964_T->C 17 21216964 21216964 T C snp 1506.77 1/1 99 42 0 42 1.0 intronic rs1657686 MAP2K3 AU NM_145109 exon11 c.28617+115T>C 0.64397 0.5724 0.6763 0.6813 Uncertain 17_21217011_C->A 17 21217011 21217011 C A snp 74.77 0/1 99 7 4 3 0.43 intronic rs1319880 MAP2K3 AU NM_145109 exon11 c.28617+162C>A 0.4407 0.4091 Uncertain 17_21217238_G->C 17 21217238 21217238 G C snp 167.77 0/1 99 18 11 7 0.39 intronic rs1673838 MAP2K3 AU NM_145109 exon12 c.29226-220G>C Uncertain 17_21217239_G->A 17 21217239 21217239 G A snp 174.77 0/1 99 18 11 7 0.39 intronic rs4114291 MAP2K3 AU NM_145109 exon12 c.29226-219G>A Uncertain 17_21217258_A->G 17 21217258 21217258 A G snp 354.77 0/1 99 32 19 13 0.41 intronic rs4114290 MAP2K3 AU NM_145109 exon12 c.29226-200A>G 0.00139776 0.002 Uncertain 17_21217290_G->A 17 21217290 21217290 G A snp 748.77 0/1 99 70 42 28 0.4 intronic rs1673837 MAP2K3 AU NM_145109 exon12 c.29226-168G>A Uncertain 17_21217397_A->G 17 21217397 21217397 A G snp 2814.77 0/1 99 247 131 116 0.47 intronic rs1657685 MAP2K3 AU NM_145109 exon12 c.29226-61A>G 0.00259585 Uncertain 17_21217400_G->A 17 21217400 21217400 G A snp 2640.77 0/1 99 249 133 116 0.47 intronic rs1622401 MAP2K3 AU NM_145109 exon12 c.29226-58G>A 0.00259585 Uncertain 17_21217411_T->C 17 21217411 21217411 T C snp 2817.77 0/1 99 250 130 120 0.48 intronic rs1657684 MAP2K3 AU NM_145109 exon12 c.29226-47T>C 0.00199681 0.5000 0.5 Uncertain 17_21217513_G->A 17 21217513 21217513 G A snp 3224.61 0/1 99 243 120 123 0.51 exonic rs2363198 MAP2K3 AU nonsynonymous SNV NM_145109 exon12 c.G1015A p.V339M 0.5 0.5 0 D 1.000 D -0.986 T 0.997 D 0.789 D Pathogenic 17_21217547_T->C 17 21217547 21217547 T C snp 2507.77 0/1 99 192 96 96 0.5 UTR3 rs2363197 MAP2K3 AU 0.000199681 0.5000 0.5 Uncertain 17_21217554_C->T 17 21217554 21217554 C T snp 2384.77 0/1 99 178 87 91 0.51 UTR3 rs2363196 MAP2K3 AU 0.5000 0.5 Uncertain 17_21217566_C->T 17 21217566 21217566 C T snp 2115.77 0/1 99 163 77 86 0.53 UTR3 rs2363375 MAP2K3 AU 0.000599042 0.5000 0.5 Uncertain 17_21217586_G->T 17 21217586 21217586 G T snp 1516.77 0/1 99 121 60 61 0.5 UTR3 rs2363374 MAP2K3 AU 0.4999 0.5 Uncertain 17_21217596_C->G 17 21217596 21217596 C G snp 1293.77 0/1 99 97 48 49 0.51 UTR3 rs2363373 MAP2K3 AU 0.000199681 Uncertain 17_21217660_C->T 17 21217660 21217660 C T snp 280.77 0/1 99 16 7 9 0.56 UTR3 rs2363195 MAP2K3 AU Uncertain 17_21318482_C->T 17 21318482 21318482 C T snp 43.77 0/1 70 4 2 2 0.5 intronic KCNJ12 AU 0.51877 0.5486 Uncertain 17_21318486_C->T 17 21318486 21318486 C T snp 71.77 0/1 99 6 3 3 0.5 intronic KCNJ12 AU 0.51877 0.5486 Uncertain 17_21318495_A->G 17 21318495 21318495 A G snp 77.77 0/1 99 7 4 3 0.43 intronic rs375809157 KCNJ12 AU 0.00559105 Uncertain 17_21318498_A->G 17 21318498 21318498 A G snp 77.77 0/1 99 7 4 3 0.43 intronic rs368914395 KCNJ12 AU Uncertain 17_21318499_G->A 17 21318499 21318499 G A snp 107.77 0/1 99 9 5 4 0.44 intronic rs371385014 KCNJ12 AU Uncertain 17_21318509_G->A 17 21318509 21318509 G A snp 264.77 0/1 99 14 6 8 0.57 intronic rs553201234 KCNJ12 AU 0.00758786 0.003 Uncertain 17_21318521_C->T 17 21318521 21318521 C T snp 326.77 0/1 99 18 8 10 0.56 intronic KCNJ12 AU Uncertain 17_21318546_A->G 17 21318546 21318546 A G snp 864.77 0/1 99 48 22 26 0.54 intronic KCNJ12 AU Uncertain 17_21318552_G->A 17 21318552 21318552 G A snp 979.77 0/1 99 56 27 29 0.52 intronic KCNJ12 AU Uncertain 17_21318555_C->T 17 21318555 21318555 C T snp 437.77 0/1 99 65 48 17 0.26 intronic KCNJ12 AU 0.501797 0.501 Uncertain 17_21318569_C->T 17 21318569 21318569 C T snp 1618.77 0/1 99 100 43 57 0.57 intronic KCNJ12 AU Uncertain 17_21318586_G->C 17 21318586 21318586 G C snp 3151.77 0/1 99 137 29 108 0.79 intronic KCNJ12 AU 0.501198 0.504 Uncertain 17_21318588_C->G 17 21318588 21318588 C G snp 1961.77 0/1 99 140 67 73 0.52 intronic KCNJ12 AU Uncertain 17_21318595_G->C 17 21318595 21318595 G C snp 970.77 0/1 99 166 122 44 0.27 splicing KCNJ12 AU 0.502196 0.5069 Pathogenic 17_21318603_C->T 17 21318603 21318603 C T snp 2299.77 0/1 99 195 100 95 0.49 UTR5 KCNJ12 AU Uncertain 17_21318629_C->A 17 21318629 21318629 C A snp 3045.77 ./1 99 250 66 184 0.74 UTR5 KCNJ12 AU 0.3096 0.3303 Uncertain 17_21318629_C->T 17 21318629 21318629 C T snp 3045.77 ./1 99 250 66 184 0.74 UTR5 KCNJ12 AU 0.2657 0.2381 Uncertain 17_21318663_G->A 17 21318663 21318663 G A snp 2317.77 0/1 99 250 162 88 0.35 exonic KCNJ12 AU synonymous SNV NM_001194958 exon3 c.G9A p.A3A 0.4979 0.4972 Uncertain 17_21318698_C->T 17 21318698 21318698 C T snp 2251.77 0/1 99 250 166 84 0.34 exonic KCNJ12 AU nonsynonymous SNV NM_001194958 exon3 c.C44T p.S15L 0.4992 0.4994 0.12 T 1.000 D -0.798 T 0.88 T 0.179 P Pathogenic 17_21318770_G->A 17 21318770 21318770 G A snp 2018.77 0/1 99 250 176 74 0.3 exonic KCNJ12 AU nonsynonymous SNV NM_001194958 exon3 c.G116A p.R39Q 0.346246 0.4812 0.216823 0.3538 0.4786 0.14 T 1.000 D -0.936 T 0.589 P 0.232 P Pathogenic 17_21318773_G->A 17 21318773 21318773 G A snp 1793.77 0/1 99 249 181 68 0.27 exonic KCNJ12 AU nonsynonymous SNV NM_001194958 exon3 c.G119A p.R40H 0.346246 0.4812 0.251346 0.3528 0.4826 0.03 T 1.000 D -0.887 T 0.048 T 0.035 T Pathogenic 17_21318782_G->A 17 21318782 21318782 G A snp 2310.77 0/1 99 249 168 81 0.33 exonic KCNJ12 AU nonsynonymous SNV NM_001194958 exon3 c.G128A p.R43H 0.4863 0.4899 0.06 T 1.000 D -0.850 T 0.182 T 0.028 T Pathogenic 17_21318867_G->A 17 21318867 21318867 G A snp 1510.77 0/1 99 250 183 67 0.27 exonic KCNJ12 AU nonsynonymous SNV NM_001194958 exon3 c.G213A p.M71I 0.4926 0.4924 1 T 0.999 D -0.909 T 0.0 T 0.0 T Pathogenic 17_21318897_G->C 17 21318897 21318897 G C snp 2246.77 0/1 99 250 170 80 0.32 exonic KCNJ12 AU synonymous SNV NM_001194958 exon3 c.G243C p.R81R 0.4993 0.4992 Uncertain 17_21318912_C->A 17 21318912 21318912 C A snp 1368.77 0/1 99 249 190 59 0.24 exonic KCNJ12 AU synonymous SNV NM_001194958 exon3 c.C258A p.I86I 0.2284 0.4038 Uncertain 17_21318918_G->A 17 21318918 21318918 G A snp 1379.77 0/1 99 250 189 61 0.24 exonic KCNJ12 AU synonymous SNV NM_001194958 exon3 c.G264A p.S88S 0.4945 0.4945 Uncertain 17_21318948_C->T 17 21318948 21318948 C T snp 1797.77 0/1 99 250 181 69 0.28 exonic KCNJ12 AU synonymous SNV NM_001194958 exon3 c.C294T p.F98F 0.4706 0.4649 Uncertain 17_21318951_C->T 17 21318951 21318951 C T snp 1672.77 0/1 99 249 183 66 0.27 exonic rs75757803 KCNJ12 AU synonymous SNV NM_001194958 exon3 c.C297T p.G99G 0.00499201 0.4699 0.4640 Uncertain 17_21318952_A->G 17 21318952 21318952 A G snp 4479.77 0/1 99 250 100 150 0.6 exonic KCNJ12 AU nonsynonymous SNV NM_001194958 exon3 c.A298G p.I100V 0.4998 0.5 0.5000 0.5 0.48 T 1 N -0.935 T 0.0 T 0.001 T Pathogenic 17_21318969_C->T 17 21318969 21318969 C T snp 1838.77 0/1 99 250 179 71 0.28 exonic KCNJ12 AU synonymous SNV NM_001194958 exon3 c.C315T p.I105I 0.000199681 0.4580 0.4547 Uncertain 17_21318981_C->T 17 21318981 21318981 C T snp 1517.77 0/1 99 249 183 66 0.27 exonic KCNJ12 AU synonymous SNV NM_001194958 exon3 c.C327T p.H109H 0.4679 0.4640 Uncertain 17_21319007_G->A 17 21319007 21319007 G A snp 2089.77 0/1 99 250 162 88 0.35 exonic KCNJ12 AU nonsynonymous SNV NM_001194958 exon3 c.G353A p.R118Q 0.498203 0.5 0.4994 0.4997 0.58 T 1 N -0.463 T 0.216 T 0.108 T Pathogenic 17_21319008_G->C 17 21319008 21319008 G C snp 4481.77 0/1 99 250 89 161 0.64 exonic KCNJ12 AU synonymous SNV NM_001194958 exon3 c.G354C p.R118R 0.498802 0.5 0.5002 0.5007 Uncertain 17_21319069_G->A 17 21319069 21319069 G A snp 1525.77 0/1 99 250 183 67 0.27 exonic KCNJ12 AU nonsynonymous SNV NM_001194958 exon3 c.G415A p.E139K 0.4898 0.4871 0.01 T 1 D 1.098 D 1.0 D 1.0 D Pathogenic 17_21319079_C->A 17 21319079 21319079 C A snp 1541.77 0/1 99 250 184 66 0.26 exonic KCNJ12 AU nonsynonymous SNV NM_001194958 exon3 c.C425A p.T142N 0.3608 0.4885 0.06 T 1 D 1.091 D 0.997 D 0.95 D Pathogenic 17_21319087_G->A 17 21319087 21319087 G A snp 1580.77 0/1 99 250 186 64 0.26 exonic KCNJ12 AU nonsynonymous SNV NM_001194958 exon3 c.G433A p.G145S 0.000199681 0.001 0.4905 0.4897 0.01 T 1 D 0.899 D 1.0 D 1.0 D Pathogenic 17_21319110_G->A 17 21319110 21319110 G A snp 1288.77 0/1 99 250 190 60 0.24 exonic KCNJ12 AU synonymous SNV NM_001194958 exon3 c.G456A p.T152T 0.4944 0.4968 Uncertain 17_21319121_C->T 17 21319121 21319121 C T snp 3031.77 0/1 99 249 146 103 0.41 exonic KCNJ12 AU nonsynonymous SNV NM_001194958 exon3 c.C467T p.P156L 0.4997 0.5 0.01 T 1 D -1.369 T 1.0 D 1.0 D Pathogenic 17_21319171_G->A 17 21319171 21319171 G A snp 1158.77 0/1 99 250 189 61 0.24 exonic KCNJ12 AU nonsynonymous SNV NM_001194958 exon3 c.G517A p.D173N 0.4731 0.4624 0.56 T 1 D 0.661 D 1.0 D 1.0 D Pathogenic 17_21319208_C->T 17 21319208 21319208 C T snp 1308.77 0/1 99 249 187 62 0.25 exonic KCNJ12 AU nonsynonymous SNV NM_001194958 exon3 c.C554T p.A185V 0.4643 0.4489 0.02 T 1 D 0.890 D 0.984 D 0.435 D Pathogenic 17_21319230_G->C 17 21319230 21319230 G C snp 2491.77 0/1 99 250 159 91 0.36 exonic KCNJ12 AU nonsynonymous SNV NM_001194958 exon3 c.G576C p.Q192H 0.4975 0.4990 0.03 T 0.998 D 0.178 D 0.004 T 0.009 T Pathogenic 17_21319251_C->T 17 21319251 21319251 C T snp 1891.77 0/1 99 250 175 75 0.3 exonic KCNJ12 AU synonymous SNV NM_001194958 exon3 c.C597T p.N199N 0.000399361 0.002 0.4935 0.4906 Uncertain 17_21319272_C->T 17 21319272 21319272 C T snp 1615.77 0/1 99 250 183 67 0.27 exonic KCNJ12 AU synonymous SNV NM_001194958 exon3 c.C618T p.D206D 0.4916 0.4879 Uncertain 17_21319285_C->T 17 21319285 21319285 C T snp 1822.77 0/1 99 250 179 71 0.28 exonic KCNJ12 AU nonsynonymous SNV NM_001194958 exon3 c.C631T p.L211F 0.4935 0.4901 0.13 T 1.000 D 0.714 D 0.946 T 0.618 D Pathogenic 17_21319302_T->C 17 21319302 21319302 T C snp 5137.77 0/1 99 250 87 163 0.65 exonic KCNJ12 AU synonymous SNV NM_001194958 exon3 c.T648C p.G216G 0.5001 0.5002 Uncertain 17_21319311_C->T 17 21319311 21319311 C T snp 1639.77 0/1 99 250 186 64 0.26 exonic KCNJ12 AU synonymous SNV NM_001194958 exon3 c.C657T p.R219R 0.4846 0.4777 Uncertain 17_21319369_G->A 17 21319369 21319369 G A snp 1985.77 0/1 99 250 175 75 0.3 exonic KCNJ12 AU nonsynonymous SNV NM_001194958 exon3 c.G715A p.E239K 0.2807 0.3854 1 T 1.000 D -0.010 T 0.606 T 0.207 P Pathogenic 17_21319392_G->A 17 21319392 21319392 G A snp 1484.77 0/1 99 249 181 68 0.27 exonic KCNJ12 AU synonymous SNV NM_001194958 exon3 c.G738A p.L246L 0.4039 0.3369 Uncertain 17_21319399_A->G 17 21319399 21319399 A G snp 1952.77 0/1 99 250 176 74 0.3 exonic KCNJ12 AU nonsynonymous SNV NM_001194958 exon3 c.A745G p.I249V 0.252114 0.3636 0.4801 0.56 T 0.997 P -1.016 T 0.001 T 0.001 T Pathogenic 17_21319407_C->T 17 21319407 21319407 C T snp 1517.77 0/1 99 250 183 67 0.27 exonic KCNJ12 AU synonymous SNV NM_001194958 exon3 c.C753T p.I251I 0.2069 0.3094 Uncertain 17_21319436_G->A 17 21319436 21319436 G A snp 1473.77 0/1 99 248 188 60 0.24 exonic KCNJ12 AU nonsynonymous SNV NM_001194958 exon3 c.G782A p.R261H 0.1802 0.0990 0.01 T 1 D 1.047 D 1.0 D 0.997 D Pathogenic 17_21319439_T->G 17 21319439 21319439 T G snp 1548.77 0/1 99 250 189 61 0.24 exonic KCNJ12 AU nonsynonymous SNV NM_001194958 exon3 c.T785G p.I262S 0.1970 0.1195 0.01 T 1 D 1.054 D 0.999 D 0.99 D Pathogenic 17_21319452_G->A 17 21319452 21319452 G A snp 1411.77 0/1 99 250 193 57 0.23 exonic KCNJ12 AU synonymous SNV NM_001194958 exon3 c.G798A p.S266S 0.00319489 0.1881 0.1241 Uncertain 17_21319465_T->C 17 21319465 21319465 T C snp 1444.77 0/1 99 250 193 57 0.23 exonic rs77724065 KCNJ12 AU synonymous SNV NM_001194958 exon3 c.T811C p.L271L 0.1827 0.1261 Uncertain 17_21319470_T->C 17 21319470 21319470 T C snp 1487.77 0/1 99 250 193 57 0.23 exonic rs76493573 KCNJ12 AU synonymous SNV NM_001194958 exon3 c.T816C p.H272H 0.1758 0.1232 Uncertain 17_21319473_G->A 17 21319473 21319473 G A snp 2075.77 0/1 99 250 166 84 0.34 exonic KCNJ12 AU synonymous SNV NM_001194958 exon3 c.G819A p.E273E 0.4999 0.5 Uncertain 17_21319488_C->T 17 21319488 21319488 C T snp 1315.77 0/1 99 250 195 55 0.22 exonic KCNJ12 AU synonymous SNV NM_001194958 exon3 c.C834T p.S278S 0.1649 0.1089 Uncertain 17_21319519_G->C 17 21319519 21319519 G C snp 1341.77 0/1 99 249 195 54 0.22 exonic KCNJ12 AU nonsynonymous SNV NM_001194958 exon3 c.G865C p.E289Q 0.2888 0.2124 0.5 T 1 D 0.116 D 0.022 T 0.023 T Pathogenic 17_21319523_C->T 17 21319523 21319523 C T snp 1349.77 0/1 99 250 197 53 0.21 exonic KCNJ12 AU nonsynonymous SNV NM_001194958 exon3 c.C869T p.T290M 0.000199681 0.2975 0.2306 0.09 T 1 D 0.728 D 0.97 D 0.479 D Pathogenic 17_21319527_C->T 17 21319527 21319527 C T snp 1398.77 0/1 99 249 194 55 0.22 exonic KCNJ12 AU synonymous SNV NM_001194958 exon3 c.C873T p.D291D 0.000399361 0.1513 0.2306 Uncertain 17_21319543_G->A 17 21319543 21319543 G A snp 1255.77 0/1 99 250 196 54 0.22 exonic KCNJ12 AU nonsynonymous SNV NM_001194958 exon3 c.G889A p.V297I 0.3346 0.2786 0.05 T 1 D 0.685 D 0.25 T 0.169 T Pathogenic 17_21319560_G->T 17 21319560 21319560 G T snp 1165.77 0/1 99 250 199 51 0.2 exonic KCNJ12 AU nonsynonymous SNV NM_001194958 exon3 c.G906T p.M302I 0.4071 0.3813 0.34 T 1 D 0.475 D 0.908 T 0.681 P Pathogenic 17_21319651_GAG->- 17 21319651 21319653 GAG - indel 3256.73 0/1 99 250 176 74 0.3 exonic rs112163749 KCNJ12 AU nonframeshift deletion NM_001194958 exon3 c.997_999del p.333_333del 0.4945 0.4948 ID=COSM278475;OCCURENCE=1(large_intestine) Uncertain 17_21319682_C->T 17 21319682 21319682 C T snp 1500.77 0/1 99 249 178 71 0.29 exonic KCNJ12 AU nonsynonymous SNV NM_001194958 exon3 c.C1028T p.S343L 0.4826 0.4903 0.03 T 1 D 0.428 D 0.166 T 0.058 T ID=COSM77932;OCCURENCE=2(ovary),1(large_intestine) Pathogenic 17_21319716_G->A 17 21319716 21319716 G A snp 1619.77 0/1 99 249 174 75 0.3 exonic KCNJ12 AU synonymous SNV NM_001194958 exon3 c.G1062A p.T354T 0.4851 0.4848 Uncertain 17_21319728_T->C 17 21319728 21319728 T C snp 1740.77 0/1 99 250 173 77 0.31 exonic KCNJ12 AU synonymous SNV NM_001194958 exon3 c.T1074C p.S358S 0.4837 0.4833 Uncertain 17_21319743_A->G 17 21319743 21319743 A G snp 1627.77 0/1 99 246 171 75 0.3 exonic KCNJ12 AU synonymous SNV NM_001194958 exon3 c.A1089G p.V363V 0.4848 0.4855 Uncertain 17_21319767_C->G 17 21319767 21319767 C G snp 1548.77 0/1 99 218 85 133 0.61 exonic rs1612176 KCNJ12 AU nonsynonymous SNV NM_001194958 exon3 c.C1113G p.S371R 0.2554 0.2743 0.51 T 0.964 D 0.274 D 0.872 T 0.734 P CLINSIG=untested;CLNDBN=Malignant_melanoma;CLNREVSTAT=no_assertion_provided;CLNACC=RCV000071369.2;CLNDSDB=MedGen:SNOMED_CT;CLNDSDBID=C0025202:2092003 Pathogenic 17_21319785_C->T 17 21319785 21319785 C T snp 1259.77 0/1 99 178 120 58 0.33 exonic KCNJ12 AU synonymous SNV NM_001194958 exon3 c.C1131T p.Y377Y 0.5000 0.5 Uncertain 17_21319786_G->A 17 21319786 21319786 G A snp 1365.77 0/1 99 176 121 55 0.31 exonic KCNJ12 AU nonsynonymous SNV NM_001194958 exon3 c.G1132A p.E378K 0.4918 0.4919 0.13 T 1 D 0.946 D 0.986 D 0.876 D Pathogenic 17_21319845_C->T 17 21319845 21319845 C T snp 592.77 0/1 99 111 79 32 0.29 exonic rs72846670 KCNJ12 AU synonymous SNV NM_001194958 exon3 c.C1191T p.D397D 0.000199681 0.4952 0.4963 CLINSIG=untested;CLNDBN=Malignant_melanoma;CLNREVSTAT=no_assertion_provided;CLNACC=RCV000071370.2;CLNDSDB=MedGen:SNOMED_CT;CLNDSDBID=C0025202:2092003 Uncertain 17_21319860_C->T 17 21319860 21319860 C T snp 810.77 0/1 99 99 36 63 0.64 exonic KCNJ12 AU synonymous SNV NM_001194958 exon3 c.C1206T p.D402D 0.3322 0.2970 Uncertain 17_21319868_G->T 17 21319868 21319868 G T snp 517.77 0/1 99 92 69 23 0.25 exonic rs73979902 KCNJ12 AU nonsynonymous SNV NM_001194958 exon3 c.G1214T p.S405I 0.4841 0.4884 0.08 T 1.000 P -0.369 T 0.085 T 0.027 T CLINSIG=untested;CLNDBN=Malignant_melanoma;CLNREVSTAT=no_assertion_provided;CLNACC=RCV000071371.2;CLNDSDB=MedGen:SNOMED_CT;CLNDSDBID=C0025202:2092003 Pathogenic 17_21319908_C->T 17 21319908 21319908 C T snp 311.77 0/1 99 65 51 14 0.22 exonic KCNJ12 AU synonymous SNV NM_001194958 exon3 c.C1254T p.G418G 0.000399361 0.4862 0.4885 Uncertain 17_21319943_A->G 17 21319943 21319943 A G snp 377.77 0/1 99 54 34 20 0.37 exonic KCNJ12 AU nonsynonymous SNV NM_001194958 exon3 c.A1289G p.E430G 0.4972 0.4972 0.04 T 1.000 D 0.810 D 1.0 D 0.999 D Pathogenic 17_21319955_G->A 17 21319955 21319955 G A snp 165.77 0/1 99 49 40 9 0.18 exonic KCNJ12 AU synonymous SNV NM_001194958 exon3 c.G1301A p.X434X 0.4858 0.4865 Uncertain 17_21319989_C->T 17 21319989 21319989 C T snp 213.77 0/1 99 27 13 14 0.52 UTR3 KCNJ12 AU 0.500399 0.498 0.3289 0.3098 Uncertain 17_21319993_T->C 17 21319993 21319993 T C snp 339.77 0/1 99 25 10 15 0.6 UTR3 KCNJ12 AU 0.4998 0.498 0.5004 0.5005 Uncertain 17_21320025_C->T 17 21320025 21320025 C T snp 97.77 0/1 99 11 6 5 0.45 UTR3 KCNJ12 AU Uncertain 17_21535937_T->C 17 21535937 21535937 T C snp 169.77 0/1 99 23 13 10 0.43 intergenic C17orf51 AU 0.435903 0.3383 Uncertain 17_21535972_A->G 17 21535972 21535972 A G snp 163.77 0/1 99 51 40 11 0.22 intergenic C17orf51 AU Uncertain 17_21536022_T->G 17 21536022 21536022 T G snp 435.77 0/1 99 137 95 42 0.31 intergenic C17orf51 AU Uncertain 17_21536065_A->G 17 21536065 21536065 A G snp 922.77 0/1 99 241 153 88 0.37 intergenic C17orf51 AU Uncertain 17_21536106_T->C 17 21536106 21536106 T C snp 1051.77 0/1 99 250 144 106 0.42 intergenic C17orf51 AU Uncertain 17_21536168_G->A 17 21536168 21536168 G A snp 1072.77 0/1 99 216 110 106 0.49 intergenic C17orf51 AU 0.000798722 Uncertain 17_21544462_G->A 17 21544462 21544462 G A snp 353.77 0/1 99 23 10 13 0.57 intergenic C17orf51 AU Uncertain 17_21544470_A->G 17 21544470 21544470 A G snp 403.77 0/1 99 30 14 16 0.53 intergenic C17orf51 AU 0.000199681 Uncertain 17_21544587_A->G 17 21544587 21544587 A G snp 1290.77 0/1 99 127 63 64 0.5 intergenic C17orf51 AU 0.00179712 Uncertain 17_21544646_T->C 17 21544646 21544646 T C snp 919.77 0/1 99 101 57 44 0.44 intergenic C17orf51 AU Uncertain 17_21544674_T->A 17 21544674 21544674 T A snp 803.77 0/1 99 75 42 33 0.44 intergenic C17orf51 AU Uncertain 17_21825565_G->T 17 21825565 21825565 G T snp 836.77 1/1 60 32 0 32 1.0 ncRNA_exonic rs12453514 FAM27L AU 0.403954 0.5903 0.320943 0.3505 0.6205 0.52 T 0.718 P -0.899 T Uncertain 17_21825993_T->G 17 21825993 21825993 T G snp 130.78 1/1 12 5 0 5 1.0 ncRNA_intronic rs9989453 FAM27L AU 0.408946 0.5913 Uncertain 17_21826038_T->C 17 21826038 21826038 T C snp 736.77 1/1 54 24 0 24 1.0 ncRNA_intronic rs9989454 FAM27L AU 0.459665 0.5913 Uncertain 17_21826256_A->G 17 21826256 21826256 A G snp 1734.77 1/1 99 63 0 63 1.0 ncRNA_exonic rs9989450 FAM27L AU 0.447284 0.5923 0.360742 0.3755 0.6188 1 T 1.000 P -0.893 T Uncertain 17_22066692_T->A 17 22066692 22066692 T A snp 46.77 0/1 75 31 24 7 0.23 intergenic rs377358618 MTRNR2L1 AU Uncertain 17_22066702_T->C 17 22066702 22066702 T C snp 229.77 0/1 99 53 36 17 0.32 intergenic rs370317040 MTRNR2L1 AU Uncertain 17_22066735_C->G 17 22066735 22066735 C G snp 429.77 0/1 99 92 63 29 0.32 intergenic rs780200333 MTRNR2L1 AU Uncertain 17_22066736_A->G 17 22066736 22066736 A G snp 427.77 0/1 99 93 65 28 0.3 intergenic rs749392075 MTRNR2L1 AU Uncertain 17_22066745_C->G 17 22066745 22066745 C G snp 523.77 0/1 99 115 74 41 0.36 intergenic rs78440652 MTRNR2L1 AU Uncertain 17_22066776_T->C 17 22066776 22066776 T C snp 1044.77 0/1 99 170 49 121 0.71 intergenic rs75644031 MTRNR2L1 AU Uncertain 17_22066780_C->T 17 22066780 22066780 C T snp 1009.77 0/1 99 174 102 72 0.41 intergenic rs78507742 MTRNR2L1 AU Uncertain 17_22066807_G->T 17 22066807 22066807 G T snp 1077.77 0/1 99 183 104 79 0.43 intergenic rs78727354 MTRNR2L1 AU Uncertain 17_22066822_C->T 17 22066822 22066822 C T snp 1101.77 0/1 99 185 102 83 0.45 intergenic rs137955476 MTRNR2L1 AU Uncertain 17_22066835_C->T 17 22066835 22066835 C T snp 1097.77 0/1 99 180 98 82 0.46 intergenic rs147079852 MTRNR2L1 AU Uncertain 17_22066857_AG->- 17 22066857 22066858 AG - indel 1623.73 0/1 99 122 70 52 0.43 intergenic rs138169151 MTRNR2L1 AU Uncertain 17_22066870_G->T 17 22066870 22066870 G T snp 821.77 0/1 99 124 65 59 0.48 intergenic rs79914182 MTRNR2L1 AU 0.000199681 0.001 Uncertain 17_22066929_C->T 17 22066929 22066929 C T snp 112.77 0/1 99 29 17 12 0.41 intergenic rs750361549 MTRNR2L1 AU Uncertain 17_22066932_A->C 17 22066932 22066932 A C snp 88.77 0/1 99 25 14 11 0.44 intergenic rs767425741 MTRNR2L1 AU Uncertain 17_22066950_A->G 17 22066950 22066950 A G snp 30.77 0/1 59 15 8 7 0.47 intergenic MTRNR2L1 AU Uncertain 17_22066960_C->G 17 22066960 22066960 C G snp 73.77 0/1 99 13 5 8 0.62 intergenic rs202064499 MTRNR2L1 AU Uncertain 17_25628820_T->C 17 25628820 25628820 T C snp 1445.77 0/1 99 148 82 66 0.45 exonic rs6561 WSB1 AU nonsynonymous SNV NM_015626 exon2 c.T47C p.L16S 0.45607 0.2609 0.492081 0.4372 0.2718 0.32 T 1.000 P -0.989 T 0.0 T 0.0 T Pathogenic 17_25630388_T->C 17 25630388 25630388 T C snp 2080.77 0/1 99 158 77 81 0.51 splicing rs2270761 WSB1 AU NM_015626 exon3 c.8971-4T>C 0.511981 0.2609 0.549054 0.4537 0.2732 Pathogenic 17_25630752_C->G 17 25630752 25630752 C G snp 113.77 0/1 99 7 3 4 0.57 intronic rs2270760 WSB1 AU NM_015626 exon3 c.9240+91C>G 0.0103834 0.0516 Uncertain 17_25636449_C->T 17 25636449 25636449 C T snp 42.79 0/1 23 4 1 3 0.75 intronic rs33949241 WSB1 AU NM_015626 exon6 c.14877+151C>T 0.3123 0.2569 Uncertain 17_25636954_T->G 17 25636954 25636954 T G snp 63.77 0/1 92 11 8 3 0.27 intronic rs11080131 WSB1 AU NM_015626 exon7 c.15665-132T>G 0.297923 0.2569 Uncertain 17_25637343_G->A 17 25637343 25637343 G A snp 133.03 1/1 12 4 0 4 1.0 intronic rs6505199 WSB1 AU NM_015626 exon7 c.15779+143G>A 0.45647 0.2619 Uncertain 17_25639105_T->- 17 25639105 25639105 T - indel 209.73 0/1 99 16 9 7 0.44 intronic rs11305587 WSB1 AU NM_015626 exon9 c.17814-130delT 0.3123 0.2569 Uncertain 17_25753033_T->C 17 25753033 25753033 T C snp 1704.77 1/1 99 67 0 67 1.0 ncRNA_exonic rs13341669 TBC1D3P5 AU 0.582668 0.6845 Uncertain 17_25887530_G->C 17 25887530 25887530 G C snp 1668.77 0/1 99 166 92 74 0.45 intronic rs2945397 KSR1 AU 0.582268 0.5982 0.553191 0.6026 0.6394 Uncertain 17_25887541_C->T 17 25887541 25887541 C T snp 1591.77 0/1 99 156 87 69 0.44 intronic rs2948526 KSR1 AU 0.561302 0.5982 Uncertain 17_25887571_T->C 17 25887571 25887571 T C snp 1222.77 0/1 99 127 73 54 0.43 intronic rs61054489 KSR1 AU 0.264377 0.4067 Uncertain 17_25909850_G->T 17 25909850 25909850 G T snp 755.77 0/1 99 92 55 37 0.4 exonic rs2293181 KSR1 AU synonymous SNV NM_014238 exon5 c.G288T p.L96L 0.383187 0.4067 0.408126 0.4341 0.4062 Uncertain 17_25912828_A->G 17 25912828 25912828 A G snp 1314.77 0/1 99 149 89 60 0.4 intronic rs2945373 KSR1 AU NM_014238 exon6 c.10941-2669A>G 0.752995 0.6448 Uncertain 17_25917810_A->G 17 25917810 25917810 A G snp 952.77 0/1 99 124 83 41 0.33 intronic rs1403321 KSR1 AU NM_014238 exon7 c.13280-26A>G 0.572284 0.6062 0.567710 0.6353 0.6776 Uncertain 17_25924596_C->T 17 25924596 25924596 C T snp 825.77 0/1 99 47 15 32 0.68 intronic rs16966333 KSR1 AU NM_014238 exon10 c.19906+134C>T 0.397564 0.3988 Uncertain 17_25931637_G->T 17 25931637 25931637 G T snp 1548.77 0/1 99 121 53 68 0.56 intronic rs2289567 KSR1 AU NM_014238 exon14 c.27149-68G>T 0.0932508 0.0516 0.142138 Uncertain 17_25944235_A->G 17 25944235 25944235 A G snp 1793.77 1/1 99 50 0 50 1.0 intronic rs4267373 KSR1 AU NM_014238 exon20 c.39764-85A>G 1 1 Uncertain 17_25944596_A->C 17 25944596 25944596 A C snp 187.9 0/1 15 7 1 6 0.86 intronic rs4268811 KSR1 AU NM_014238 exon20 c.39898+142A>C 0.438698 0.4236 Uncertain 17_25950175_C->T 17 25950175 25950175 C T snp 147.77 0/1 99 13 8 5 0.38 UTR3 rs2241906 KSR1 AU 0.209465 0.2361 Uncertain 17_25950220_G->A 17 25950220 25950220 G A snp 562.77 0/1 99 41 19 22 0.54 UTR3 rs1075952 KSR1 AU 0.210663 0.2361 Uncertain 17_25958064_G->C 17 25958064 25958064 G C snp 77.77 0/1 99 6 3 3 0.5 upstream rs3751091 LGALS9 AU 0.235024 0.2093 Uncertain 17_25958091_A->G 17 25958091 25958091 A G snp 173.77 0/1 99 17 11 6 0.35 upstream rs3751092 LGALS9 AU 0.318291 0.253 Uncertain 17_25958304_G->A 17 25958304 25958304 G A snp 1005.77 0/1 99 110 67 43 0.39 exonic rs3751093 LGALS9 AU nonsynonymous SNV NM_002308 exon1 c.G13A p.G5S 0.202476 0.2331 0.182685 0.2203 0.2654 0.77 T 0.000 P -0.918 T 0.009 T 0.012 T Pathogenic 17_25972157_A->G 17 25972157 25972157 A G snp 203.77 0/1 99 17 6 11 0.65 intronic rs72845102 LGALS9 AU NM_002308 exon5 c.14048-182A>G 0.313299 0.4028 Uncertain 17_25972311_C->T 17 25972311 25972311 C T snp 1221.77 0/1 99 206 142 64 0.31 intronic rs2304886 LGALS9 AU NM_002308 exon5 c.14048-28C>T 0.2074 0.1677 Uncertain 17_25974545_T->G 17 25974545 25974545 T G snp 762.77 0/1 99 82 47 35 0.43 intronic rs4794976 LGALS9 AU NM_002308 exon9 c.16167+87T>G 0.403155 0.4752 Uncertain 17_25982119_T->C 17 25982119 25982119 T C snp 553.77 0/1 99 35 18 17 0.49 intergenic rs4795843 LGALS9 AU 0.3123 0.2817 Uncertain 17_26073050_T->G 17 26073050 26073050 T G snp 327.77 0/1 99 25 11 14 0.56 intergenic rs2241902 LGALS9 AU Uncertain 17_26073136_T->G 17 26073136 26073136 T G snp 931.77 1/1 69 75 8 67 0.89 intergenic rs142859551 LGALS9 AU Uncertain 17_26079737_T->G 17 26079737 26079737 T G snp 299.77 1/1 30 16 0 16 1.0 intergenic rs2304887 LGALS9 AU 0.634185 0.5992 Uncertain 17_26079849_T->C 17 26079849 26079849 T C snp 257.77 0/1 99 83 70 13 0.16 intergenic rs2304885 LGALS9 AU 0.392572 0.3294 Uncertain 17_26080008_G->A 17 26080008 26080008 G A snp 289.77 0/1 99 67 49 18 0.27 intergenic rs4796027 LGALS9 AU Uncertain 17_26089867_T->C 17 26089867 26089867 T C snp 604.77 1/1 45 18 0 18 1.0 exonic rs1060826 NOS2 AU,AO synonymous SNV NM_000625 exon22 c.A2757G p.T919T 0.729832 0.6696 0.665585 0.7239 0.7451 Uncertain 17_26091227_C->T 17 26091227 26091227 C T snp 220.84 1/1 18 12 0 12 1.0 intronic rs2297511 NOS2 AU,AO NM_000625 exon7 c.6899+57C>T 0.728435 0.6696 Uncertain 17_26092555_G->A 17 26092555 26092555 G A snp 472.77 1/1 36 18 0 18 1.0 splicing rs2297512 NOS2 AU,AO NM_000625 exon8 c.8289-5G>A 0.730032 0.6706 0.666589 0.6582 0.7006 Pathogenic 17_26092631_A->G 17 26092631 26092631 A G snp 1090.77 1/1 78 36 0 36 1.0 exonic rs1060822 NOS2 AU,AO synonymous SNV NM_000625 exon20 c.T2358C p.G786G 0.730831 0.6706 0.667488 0.6637 0.7009 Uncertain 17_26096473_C->A 17 26096473 26096473 C A snp 46.77 0/1 31 3 1 2 0.67 intronic rs9282801 NOS2 AU,AO NM_000625 exon12 c.12289-87C>A 0.291933 0.1935 Uncertain 17_26099171_T->G 17 26099171 26099171 T G snp 730.77 1/1 54 21 0 21 1.0 intronic rs2274894 NOS2 AU,AO NM_000625 exon14 c.15062-162T>G 0.732228 0.6617 Uncertain 17_26100321_A->G 17 26100321 26100321 A G snp 1476.77 1/1 99 52 0 52 1.0 intronic rs2248814 NOS2 AU,AO NM_000625 exon15 c.15998+52A>G 0.727636 0.6567 0.678905 0.6565 0.6916 Uncertain 17_26101237_G->A 17 26101237 26101237 G A snp 297.77 0/1 99 19 10 9 0.47 intronic rs3729966 NOS2 AU,AO NM_000625 exon16 c.17011-45G>A 0.21266 0.2649 0.181224 0.2225 0.3127 Uncertain 17_26108040_T->C 17 26108040 26108040 T C snp 5941.77 1/1 99 205 0 205 1.0 intronic rs2297520 NOS2 AU,AO NM_000625 exon20 c.23790-21T>C 0.686102 0.5 0.662692 0.6447 0.5481 Uncertain 17_26109030_T->C 17 26109030 26109030 T C snp 4902.77 1/1 99 180 0 180 1.0 intronic rs3729508 NOS2 AU,AO NM_000625 exon21 c.24769-10T>C 0.682308 0.4921 0.663924 0.6457 0.5323 Uncertain 17_26125918_G->A 17 26125918 26125918 G A snp 3259.77 1/1 99 124 3 121 0.98 intronic rs3730013 NOS2 AU,AO NM_000625 exon26 c.41637+10G>A 0.339058 0.2937 0.4125 0.3946 Uncertain 17_26206414_C->A 17 26206414 26206414 C A snp 710.77 1/1 51 26 0 26 1.0 UTR3 rs3751972 LYRM9 AU 0.786142 0.5179 0.793473 Uncertain 17_26646434_-->C 17 26646434 26646434 - C indel 3704.73 1/1 99 85 0 85 1.0 intronic rs5819836 TMEM97 AU NM_014573 exon1 c.126+43insC 0.9998 0.999 0.999829 1.0000 0.9995 Uncertain 17_26669245_-->G 17 26669245 26669245 - G indel 1573.73 1/1 99 38 0 38 1.0 intronic TNFAIP1 AU NM_021137 exon6 c.2725-27insG 1 1 1.0000 1 Uncertain 17_26676135_C->T 17 26676135 26676135 C T snp 3782.77 1/1 99 142 0 142 1.0 exonic POLDIP2 AU unknown 0.505192 0.7073 0.467009 0.5226 0.7187 Uncertain 17_26678960_G->C 17 26678960 26678960 G C snp 225.84 1/1 18 7 0 7 1.0 intronic POLDIP2 AU NM_015584 exon5 c.3684+134G>C 0.551917 0.7083 Uncertain 17_26684284_T->- 17 26684284 26684284 T - indel 1405.73 1/1 99 34 0 34 1.0 intronic POLDIP2 AU NM_015584 exon11 c.9171-29delT 1 1 1 1 Uncertain 17_26684390_-->C 17 26684390 26684390 - C indel 957.73 1/1 86 31 0 31 1.0 exonic POLDIP2 AU unknown 1 1 0.996455 1.0000 1 ID=COSN215832;OCCURENCE=1(central_nervous_system) Uncertain 17_26684394_T->G 17 26684394 26684394 T G snp 581.53 1/1 3 27 2 25 0.93 exonic POLDIP2 AU unknown 0.998602 0.999 1.0000 1 Uncertain 17_26684449_G->C 17 26684449 26684449 G C snp 382.77 1/1 30 13 0 13 1.0 exonic POLDIP2 AU unknown 1 1 0.9999 1 Uncertain 17_26687484_-->C 17 26687484 26687484 - C indel 1427.73 1/1 99 36 0 36 1.0 intronic TMEM199 AR NM_152464 exon4 c.2858-67insC 1 1 Uncertain 17_26687898_-->C 17 26687898 26687898 - C indel 1094.73 1/1 87 31 0 31 1.0 intronic TMEM199 AR NM_152464 exon5 c.3177+28insC 1 1 1.0000 0.9997 Uncertain 17_26691321_A->G 17 26691321 26691321 A G snp 1958.77 1/1 99 74 1 73 0.99 exonic SEBOX AU nonsynonymous SNV NM_001080837 exon3 c.T542C p.L181S 0.879193 0.9921 0.837075 0.8073 0.9949 0.93 T 0.0 P -0.922 T 0.001 T 0.0 T Pathogenic 17_26692224_-->G 17 26692224 26692224 - G indel 7648.73 1/1 99 191 0 191 1.0 upstream SEBOX AU 0.9998 1 0.9999 1 Uncertain 17_26694861_G->A 17 26694861 26694861 G A snp 6521.77 1/1 99 232 0 232 1.0 exonic VTN AU nonsynonymous SNV NM_000638 exon7 c.C1199T p.T400M 0.555112 0.7083 0.509534 0.5082 0.7239 0.22 T 0.0 P -0.902 T 0.943 T 0.115 D ID=CM093744;DIS=Hemangioblastoma in VHL, association with;TAG=DP;PUB=19288063 DP Pathogenic 17_26695704_A->G 17 26695704 26695704 A G snp 822.77 1/1 60 25 0 25 1.0 intronic VTN AU NM_000638 exon3 c.1305+10A>G 0.978634 1 0.962018 0.9632 0.9999 Uncertain 17_26695832_A->G 17 26695832 26695832 A G snp 3214.74 1/1 99 115 0 115 1.0 intronic VTN AU NM_000638 exon4 c.1503-60A>G 0.763978 0.9514 Uncertain 17_26699121_G->C 17 26699121 26699121 G C snp 1471.77 1/1 99 56 0 56 1.0 exonic SARM1 AU nonsynonymous SNV NM_015077 exon1 c.G68C p.R23P 1 1 0.9999 1 1 T 0.001 P -0.965 T Pathogenic 17_26699195_-->G 17 26699195 26699195 - G indel 1910.73 1/1 99 43 0 43 1.0 exonic SARM1 AU frameshift insertion NM_015077 exon1 c.142_143insG p.P48fs 1 1 0.987943 1 . Pathogenic 17_26699199_-->C 17 26699199 26699199 - C indel 1524.73 1/1 99 42 0 42 1.0 exonic SARM1 AU frameshift insertion NM_015077 exon1 c.147dupC p.G49fs 0.994808 1 0.991601 1 . Pathogenic 17_26699206_A->- 17 26699206 26699206 A - indel 1589.73 1/1 99 40 0 40 1.0 exonic;splicing SARM1;SARM1 UN frameshift deletion NM_015077 exon2 c.152delA p.E51fs 0.997714 1 . Pathogenic 17_26699367_-->C 17 26699367 26699367 - C indel 3822.73 1/1 99 91 0 91 1.0 exonic SARM1 AU frameshift insertion NM_015077 exon2 c.314dupC p.A105fs 1 1 0.998547 1 1 ID=COSM976864;OCCURENCE=1(endometrium) Pathogenic 17_26708300_T->C 17 26708300 26708300 T C snp 7002.77 1/1 99 244 4 240 0.98 exonic SARM1 AU synonymous SNV NM_015077 exon3 c.T546C p.S182S 1 1 0.0769 0 0.96 T 1.000 P -0.934 T 0.0 T 0.0 T Likely benign 17_26708302_G->T 17 26708302 26708302 G T snp 6778.77 1/1 99 242 4 238 0.98 exonic SARM1 AU nonsynonymous SNV NM_015077 exon3 c.G548T p.G183V 0.999401 0.998 0.880963 9.192e-06 0.0001 0.64 T 0.565 P -1.045 T 0.0 T 0.0 T Pathogenic 17_26708304_T->G 17 26708304 26708304 T G snp 7127.77 1/1 99 243 0 243 1.0 exonic SARM1 AU nonsynonymous SNV NM_015077 exon3 c.T550G p.S184A 1 1 0.989457 0.0833 0.5 0.63 T 0.000 P -0.973 T 0.0 T 0.0 T Pathogenic 17_26708550_T->C 17 26708550 26708550 T C snp 6171.77 1/1 99 233 4 229 0.98 exonic SARM1 AU nonsynonymous SNV NM_015077 exon3 c.T796C p.S266P 0.966254 0.9355 0.995884 1.0000 1 0.46 T 0.000 P -1.047 T 0.0 T 0.0 T Pathogenic 17_26708551_C->G 17 26708551 26708551 C G snp 6032.77 1/1 99 231 4 227 0.98 exonic SARM1 AU nonsynonymous SNV NM_015077 exon3 c.C797G p.S266W 1 1 0.995643 1.0000 1 0.3 T 0.035 P -1.072 T 0.0 T 0.0 T Pathogenic 17_26716821_C->T 17 26716821 26716821 C T snp 1002.77 1/1 72 38 0 38 1.0 intronic SARM1 AU NM_015077 exon8 c.16505+1263C>T 0.610224 0.7054 Uncertain 17_26716917_G->T 17 26716917 26716917 G T snp 1052.77 1/1 78 39 0 39 1.0 intronic SARM1 AU NM_015077 exon8 c.16505+1359G>T 0.605631 0.7054 Uncertain 17_26727722_A->- 17 26727722 26727722 A - indel 1728.73 1/1 99 42 0 42 1.0 splicing rs5819844 SLC46A1 AR NM_001242366 exon3 c.1051delA 1 1 0.999668 1 1 Pathogenic 17_26729428_C->T 17 26729428 26729428 C T snp 1791.77 1/1 99 61 0 61 1.0 intronic SLC46A1 AR NM_080669 exon4 c.2668+89C>T 0.85603 0.755 Uncertain 17_26816365_-->C 17 26816365 26816365 - C indel 1280.73 0/1 99 95 43 52 0.55 splicing SLC13A2 AU NM_001145975 exon2 c.15630+5insC 0.427716 0.3016 0.409984 0.4105 0.3131 Pathogenic 17_26818620_A->G 17 26818620 26818620 A G snp 3134.77 0/1 99 250 129 121 0.48 exonic SLC13A2 AU nonsynonymous SNV NM_001145975 exon5 c.A887G p.Q296R 0.53 T 0.987 D -0.913 T 0.939 T 0.676 D Pathogenic 17_26818676_T->C 17 26818676 26818676 T C snp 7670.77 1/1 99 250 0 250 1.0 intronic SLC13A2 AU NM_001145975 exon5 c.17905+41T>C 0.955072 0.875 0.972167 0.9604 0.9057 Uncertain 17_26821570_T->A 17 26821570 26821570 T A snp 950.77 0/1 99 65 30 35 0.54 intronic SLC13A2 AU NM_001145975 exon9 c.20800+40T>A 0.0285543 0.0109 0.018222 0.0222 0.0175 Uncertain 17_26822556_T->G 17 26822556 26822556 T G snp 218.77 0/1 99 19 12 7 0.37 intronic SLC13A2 AU NM_001145975 exon10 c.21942-116T>G 0.0321486 0.0109 Uncertain 17_26822872_C->T 17 26822872 26822872 C T snp 1045.77 0/1 99 83 39 44 0.53 intronic SLC13A2 AU NM_001145975 exon10 c.22104+38C>T 0.0315495 0.0109 0.021452 0.0238 0.0175 Uncertain 17_26824156_A->G 17 26824156 26824156 A G snp 2017.77 0/1 99 171 81 90 0.53 exonic SLC13A2 AU nonsynonymous SNV NM_001145975 exon12 c.A1795G p.I599V 0.473442 0.3452 0.424958 0.4042 0.3641 1 T 0.000 P -1.008 T 0.0 T 0.001 T Pathogenic 17_26850811_TCTCTCTCTCTCTCTC->- 17 26850811 26850826 TCTCTCTCTCTCTCTC - indel 1457.73 0/1 99 11 2 9 0.82 upstream rs10527420 FOXN1 AR Uncertain 17_26850929_A->C 17 26850929 26850929 A C snp 2505.77 1/1 99 93 0 93 1.0 upstream rs483434 FOXN1 AR 0.898562 0.9712 Uncertain 17_26851370_-->CTT 17 26851370 26851370 - CTT indel 337.8 1/1 18 6 0 6 1.0 intronic rs10638362 FOXN1 AR NM_003593 exon2 c.533-150insCTT 0.947484 0.9742 Uncertain 17_26851501_G->A 17 26851501 26851501 G A snp 4288.77 1/1 99 156 0 156 1.0 intronic rs614434 FOXN1 AR NM_003593 exon2 c.533-19G>A 0.650759 0.8909 0.630248 0.7149 0.9023 Uncertain 17_26856125_G->A 17 26856125 26856125 G A snp 1343.77 0/1 99 108 57 51 0.47 exonic rs188424977 FOXN1 AR nonsynonymous SNV NM_003593 exon4 c.G713A p.G238D 0.000399361 0.002 0.0003 0.0037 0.08 T 0.712 N 0.294 D 0.916 T 0.545 D Pathogenic 17_26856261_A->G 17 26856261 26856261 A G snp 2594.77 0/1 99 250 145 105 0.42 intronic rs548973 FOXN1 AR NM_003593 exon4 c.5255+19A>G 0.430711 0.3204 0.420652 0.3860 0.3304 Uncertain 17_26864302_G->C 17 26864302 26864302 G C snp 2121.77 0/1 99 197 106 91 0.46 exonic rs532648 FOXN1 AR nonsynonymous SNV NM_003593 exon8 c.G1795C p.A599P 0.392772 0.2212 0.378671 0.3229 0.2171 1 T 0.0 P -0.949 T 0.0 T 0.0 T Pathogenic 17_26883313_A->G 17 26883313 26883313 A G snp 2127.77 0/1 99 174 78 96 0.55 intronic rs631905 PIGS AU NM_033198 exon3 c.2047+29A>G 0.487021 0.3294 0.485391 0.3893 0.3635 Uncertain 17_26890950_A->G 17 26890950 26890950 A G snp 556.77 0/1 99 53 29 24 0.45 intronic rs3764865 PIGS AU NM_033198 exon9 c.9688+25A>G 0.0257588 0.0417 0.004613 0.0179 0.0472 Uncertain 17_26906295_-->A 17 26906295 26906295 - A indel 1891.73 0/1 99 105 51 54 0.51 intronic rs750261574 SPAG5 AU NM_006461 exon6 c.1554+25insA 8.246e-06 0.0001 Uncertain 17_26944341_-->ATAT 17 26944341 26944341 - ATAT indel 3886.73 0/1 99 138 77 61 0.44 ncRNA_exonic;splicing rs765312316 SPAG5-AS1;KIAA0100 UN 1.665e-05 0.0002 Uncertain 17_27000391_A->G 17 27000391 27000391 A G snp 1055.77 1/1 75 37 0 37 1.0 UTR5 rs9904043 SUPT6H AU 0.771965 0.8343 0.743349 0.7744 0.8360 Uncertain 17_27002402_A->G 17 27002402 27002402 A G snp 3341.77 1/1 99 129 1 128 0.99 intronic rs9892089 SUPT6H AU NM_003170 exon6 c.1999-16A>G 0.770966 0.8343 0.742657 0.7662 0.8316 Uncertain 17_27004703_C->A 17 27004703 27004703 C A snp 2589.77 1/1 99 88 0 88 1.0 intronic rs7207976 SUPT6H AU NM_003170 exon8 c.4313-29C>A 0.622604 0.7748 0.607720 0.6677 0.7782 Uncertain 17_27009749_C->T 17 27009749 27009749 C T snp 2215.77 1/1 99 75 0 75 1.0 exonic rs12051648 SUPT6H AU synonymous SNV NM_003170 exon14 c.C1602T p.G534G 0.402955 0.5962 0.423036 0.5099 0.5792 Uncertain 17_27038036_A->G 17 27038036 27038036 A G snp 86.28 1/1 9 3 0 3 1.0 UTR5 PROCA1 AU Uncertain 17_27044237_C->T 17 27044237 27044237 C T snp 1758.77 0/1 99 137 58 79 0.58 exonic rs143463372 NARR AU nonsynonymous SNV NM_001256281 exon1 c.G490A p.A164T 0.00638978 0.0079 0.003862 0.0130 0.0144 -0.674 T Pathogenic 17_27053568_G->A 17 27053568 27053568 G A snp 216.84 1/1 18 6 0 6 1.0 intronic rs12952249 TLCD1 AU NM_001160407 exon4 c.2246-205G>A 0.502396 0.6607 Uncertain 17_27093542_G->A 17 27093542 27093542 G A snp 3204.83 1/1 99 106 0 106 1.0 intronic rs9900141 FAM222B AU NM_001288631 exon3 c.8316-61G>A 0.780152 0.8373 Uncertain 17_27183155_C->G 17 27183155 27183155 C G snp 550.77 1/1 42 14 0 14 1.0 intronic rs9916866 ERAL1 AU NM_005702 exon2 c.1229-126C>G 0.669529 0.6925 Uncertain 17_27185827_C->T 17 27185827 27185827 C T snp 4076.77 1/1 99 137 0 137 1.0 exonic rs2242345 ERAL1 AU synonymous SNV NM_005702 exon7 c.C945T p.D315D 0.771166 0.749 0.824004 0.7794 0.7259 Uncertain 17_27187636_G->T 17 27187636 27187636 G T snp 3387.77 1/1 99 105 0 105 1.0 UTR3 rs9279 ERAL1 AU 0.663538 0.6925 0.7442 0.6783 Uncertain 17_27188296_A->C 17 27188296 27188296 A C snp 163.9 1/1 15 6 0 6 1.0 upstream;downstream rs28448745 MIR451B;ERAL1 UN 0.678315 0.6925 Uncertain 17_27225937_C->T 17 27225937 27225937 C T snp 744.77 1/1 57 21 0 21 1.0 intronic rs4795473 DHRS13 AU NM_144683 exon1 c.452+27C>T 0.761382 0.7202 0.767117 0.7762 0.7187 Uncertain 17_27246369_CTCCCCTCCTTGATCCTAACATT->- 17 27246369 27246391 CTCCCCTCCTTGATCCTAACATT - indel 6752.73 1/1 84 105 0 105 1.0 intronic rs397785853 PHF12 AU NM_020889 exon4 c.6820+76_6820+98delCTCCCCTCCTTGATCCTAACATT 0.653554 0.6181 Uncertain 17_27382061_C->A 17 27382061 27382061 C A snp 2468.77 1/1 99 79 0 79 1.0 intronic rs68136852 PIPOX AU NM_016518 exon6 c.11837-19C>A 0.227037 0.5952 0.118638 0.1828 0.5575 Uncertain 17_27412805_T->G 17 27412805 27412805 T G snp 701.77 1/1 54 19 0 19 1.0 intronic rs7209661 MYO18A AU NM_078471 exon3 c.10879+139T>G 0.526158 0.8581 Uncertain 17_27413403_T->C 17 27413403 27413403 T C snp 809.77 1/1 60 23 0 23 1.0 intronic rs8080570 MYO18A AU NM_078471 exon4 c.11668-52T>C 0.527955 0.8601 Uncertain 17_27413908_C->G 17 27413908 27413908 C G snp 433.77 1/1 33 11 0 11 1.0 intronic rs4795495 MYO18A AU NM_078471 exon5 c.12166-45C>G 0.735024 0.9127 0.641264 0.6178 0.8792 Uncertain 17_27416860_T->C 17 27416860 27416860 T C snp 588.77 1/1 45 15 0 15 1.0 intronic rs4965416 MYO18A AU NM_078471 exon6 c.15191-118T>C 0.52476 0.8571 Uncertain 17_27418106_C->T 17 27418106 27418106 C T snp 54.74 1/1 6 2 0 2 1.0 intronic rs4965417 MYO18A AU NM_078471 exon8 c.16157+162C>T 0.73762 0.9127 Uncertain 17_27420304_G->C 17 27420304 27420304 G C snp 1939.77 1/1 99 60 1 59 0.98 intronic rs12603438 MYO18A AU NM_078471 exon11 c.18553-36G>C 0.527157 0.8571 0.403210 0.4329 0.8380 Uncertain 17_27421911_T->G 17 27421911 27421911 T G snp 2928.77 1/1 99 106 0 106 1.0 intronic rs2019988 MYO18A AU NM_078471 exon14 c.20166-42T>G 0.507388 0.8571 0.384831 0.3938 0.8370 Uncertain 17_27422053_C->T 17 27422053 27422053 C T snp 2161.77 1/1 99 79 0 79 1.0 exonic rs2320786 MYO18A AU synonymous SNV NM_078471 exon29 c.G4410A p.A1470A 0.508187 0.8571 0.387561 0.4760 0.8557 Uncertain 17_27424163_A->C 17 27424163 27424163 A C snp 432.77 1/1 33 12 0 12 1.0 intronic rs748737 MYO18A AU NM_078471 exon16 c.22453-77A>C 0.526158 0.8571 Uncertain 17_27424316_G->A 17 27424316 27424316 G A snp 2718.77 1/1 99 95 0 95 1.0 exonic rs8067806 MYO18A AU synonymous SNV NM_078471 exon27 c.C4155T p.T1385T 0.263578 0.5833 0.160766 0.1919 0.5346 Uncertain 17_27425793_A->G 17 27425793 27425793 A G snp 3121.77 1/1 99 112 0 112 1.0 intronic rs12450936 MYO18A AU NM_078471 exon20 c.24056-50A>G 0.525958 0.8571 0.404090 Uncertain 17_27437134_A->G 17 27437134 27437134 A G snp 3157.77 1/1 99 118 0 118 1.0 intronic rs2279958 MYO18A AU NM_078471 exon24 c.35332+15A>G 0.684305 0.9127 0.579406 0.5693 0.8815 Uncertain 17_27437208_A->G 17 27437208 27437208 A G snp 1391.77 1/1 99 42 0 42 1.0 intronic rs2279959 MYO18A AU NM_078471 exon24 c.35332+89A>G 0.664736 0.9127 Uncertain 17_27437710_C->G 17 27437710 27437710 C G snp 1897.77 1/1 99 70 0 70 1.0 intronic rs1994663 MYO18A AU NM_078471 exon25 c.35853+70C>G 0.528754 0.8671 Uncertain 17_27438469_G->A 17 27438469 27438469 G A snp 2662.77 1/1 99 97 1 96 0.99 exonic rs8076604 MYO18A AU nonsynonymous SNV NM_078471 exon17 c.C2873T p.A958V 0.528355 0.8671 0.434515 0.4925 0.8461 0.76 T 1.000 P -0.904 T 1.0 D 0.997 D Pathogenic 17_27441077_C->G 17 27441077 27441077 C G snp 5680.77 1/1 99 215 0 215 1.0 exonic rs12601535 MYO18A AU synonymous SNV NM_078471 exon15 c.G2550C p.P850P 0.685304 0.9127 0.576030 0.6174 0.8826 Uncertain 17_27442561_A->G 17 27442561 27442561 A G snp 254.8 1/1 21 7 0 7 1.0 intronic rs12936218 MYO18A AU NM_078471 exon30 c.40672+102A>G 0.684305 0.9127 Uncertain 17_27447905_C->T 17 27447905 27447905 C T snp 174.9 1/1 15 5 0 5 1.0 intronic rs12601994 MYO18A AU NM_078471 exon37 c.46228-110C>T 0.252596 0.5913 Uncertain 17_27449059_C->A 17 27449059 27449059 C A snp 3067.77 1/1 99 109 1 108 0.99 intronic rs877492 MYO18A AU NM_078471 exon39 c.47188+84C>A 0.548323 0.8671 Uncertain 17_27455708_C->- 17 27455708 27455708 C - indel 159.87 1/1 15 8 0 8 1.0 intronic rs55939148 MYO18A AU NM_078471 exon40 c.47484+6437delC 0.356629 0.5942 Uncertain 17_27455736_A->G 17 27455736 27455736 A G snp 56.74 1/1 6 2 0 2 1.0 intronic rs8075284 MYO18A AU NM_078471 exon40 c.47484+6465A>G 0.701677 0.9127 Uncertain 17_27455746_C->T 17 27455746 27455746 C T snp 46.74 1/1 6 2 0 2 1.0 intronic rs8074732 MYO18A AU NM_078471 exon40 c.47484+6475C>T 0.97504 0.9345 Uncertain 17_27456255_G->C 17 27456255 27456255 G C snp 543.77 1/1 42 14 0 14 1.0 intronic rs11080078 MYO18A AU NM_078471 exon40 c.47484+6984G>C 0.529752 0.8671 Uncertain 17_27492869_A->G 17 27492869 27492869 A G snp 2092.77 1/1 99 72 0 72 1.0 intronic rs6505113 MYO18A AU NM_078471 exon41 c.91172-90A>G 0.72524 0.9018 Uncertain 17_27778834_G->A 17 27778834 27778834 G A snp 136.03 1/1 12 4 0 4 1.0 intronic rs4795510 TAOK1 AU NM_025142 exon2 c.132+136G>A 0.728435 0.9692 Uncertain 17_27835138_C->T 17 27835138 27835138 C T snp 3592.77 1/1 99 126 0 126 1.0 exonic rs508706 TAOK1 AU synonymous SNV NM_020791 exon14 c.C1563T p.A521A 0.829872 0.7768 0.871060 0.8385 0.7663 Uncertain 17_27861329_T->C 17 27861329 27861329 T C snp 567.77 1/1 42 22 0 22 1.0 intronic rs3744624 TAOK1 AU NM_025142 exon17 c.82752+11T>C 0.255591 0.6627 0.142550 0.2240 0.6602 Uncertain 17_27889578_T->C 17 27889578 27889578 T C snp 2599.77 1/1 99 99 0 99 1.0 UTR3 rs539307 ABHD15 AU 0.744609 0.9385 0.669153 0.6571 0.9324 Uncertain 17_27889963_C->G 17 27889963 27889963 C G snp 1994.77 0/1 99 174 85 89 0.51 exonic rs721479 ABHD15 AU synonymous SNV NM_198147 exon2 c.G1023C p.P341P 0.222843 0.2044 0.223282 0.1723 0.2095 Uncertain 17_27889986_T->C 17 27889986 27889986 T C snp 4302.77 1/1 99 162 0 162 1.0 exonic rs542939 ABHD15 AU nonsynonymous SNV NM_198147 exon2 c.A1000G p.T334A 0.767971 0.8998 0.694295 0.6950 0.8995 0.37 T 0.003 P -1.065 T 0.04 T 0.028 T Pathogenic 17_27893015_G->A 17 27893015 27893015 G A snp 1598.77 1/1 99 55 0 55 1.0 intronic rs2292973 ABHD15 AU NM_198147 exon2 c.3525-88G>A 0.383586 0.6825 Uncertain 17_27895683_C->- 17 27895683 27895683 C - indel 317.75 1/1 24 8 0 8 1.0 upstream rs200199476 TP53I13 AU 0.650759 0.7937 Uncertain 17_27898828_T->C 17 27898828 27898828 T C snp 6375.77 1/1 99 214 0 214 1.0 intronic rs565977 TP53I13 AU NM_138349 exon5 c.3098-46T>C 0.670727 0.7986 0.671006 0.6647 0.7510 Uncertain 17_27901975_A->G 17 27901975 27901975 A G snp 5006.77 1/1 99 184 2 182 0.99 intronic rs550818 GIT1 AU NM_014030 exon1 c.213+43A>G 0.795128 0.9385 0.762966 0.7677 0.9178 Uncertain 17_27902541_G->A 17 27902541 27902541 G A snp 1164.77 1/1 84 40 1 39 0.97 intronic rs138460252 GIT1 AU NM_014030 exon3 c.769+53G>A 0.00319489 0.0159 Uncertain 17_27904322_A->G 17 27904322 27904322 A G snp 4395.77 1/1 99 157 0 157 1.0 intronic rs601364 GIT1 AU NM_014030 exon10 c.2546+57A>G 0.982628 1 Uncertain 17_27904617_C->A 17 27904617 27904617 C A snp 3032.77 1/1 99 112 0 112 1.0 intronic rs2278217 GIT1 AU NM_014030 exon11 c.2943-45C>A 0.386581 0.6855 0.328771 0.4206 0.6476 Uncertain 17_27904711_G->A 17 27904711 27904711 G A snp 4632.77 1/1 99 180 0 180 1.0 exonic rs11080105 GIT1 AU synonymous SNV NM_001085454 exon11 c.C960T p.A320A 0.385982 0.6845 0.328464 0.4210 0.6473 Uncertain 17_27905673_A->G 17 27905673 27905673 A G snp 1597.77 1/1 99 48 0 48 1.0 intronic rs563976 GIT1 AU NM_014030 exon13 c.4029-75A>G 0.792532 0.9385 0.750548 Uncertain 17_27910706_C->T 17 27910706 27910706 C T snp 1546.77 1/1 99 46 0 46 1.0 intronic rs2303623 GIT1 AU NM_014030 exon19 c.8915+72C>T 0.388179 0.6458 Uncertain 17_27949934_-->C 17 27949934 27949934 - C indel 682.73 1/1 51 17 0 17 1.0 intergenic rs386385872 CORO6 AU 1 1 1 1 Uncertain 17_27959264_G->A 17 27959264 27959264 G A snp 1767.77 0/1 99 117 47 70 0.6 exonic rs117633958 SSH2 AU nonsynonymous SNV NM_033389 exon15 c.C2867T p.A956V 0.00599042 0.0248 0.000077 0.0023 0.0294 0.01 T 1 N -1.027 T 0.003 T 0.006 T ID=COSM148224;OCCURENCE=1(stomach) Pathogenic 17_28011504_A->T 17 28011504 28011504 A T snp 74.77 0/1 99 39 34 5 0.13 intronic SSH2 AU NM_033389 exon11 c.53722-76A>T Uncertain 17_28029938_T->C 17 28029938 28029938 T C snp 2625.77 1/1 99 98 0 98 1.0 intronic rs3102560 SSH2 AU NM_033389 exon13 c.72118-38T>C 0.615815 0.7222 0.554590 0.5632 0.6910 Uncertain 17_28268800_A->C 17 28268800 28268800 A C snp 1368.77 1/1 99 51 0 51 1.0 intronic rs4567782 EFCAB5 AU NM_198529 exon1 c.42-56A>C 0.546326 0.7143 0.474141 0.5739 0.7038 Uncertain 17_28296327_T->G 17 28296327 28296327 T G snp 4108.77 1/1 99 147 1 146 0.99 exonic rs9897794 EFCAB5 AU nonsynonymous SNV NM_001145053 exon4 c.T541G p.L181V 0.542332 0.7133 0.469093 0.5288 0.6847 0.6 T 1.000 P -1.020 T 0.0 T 0.0 T Pathogenic 17_28320248_T->A 17 28320248 28320248 T A snp 4160.77 1/1 99 154 0 154 1.0 exonic rs4795524 EFCAB5 AU nonsynonymous SNV NM_001145053 exon5 c.T665A p.I222K 0.98742 1 0.978606 0.9818 1 1 T 1.000 P -0.921 T 0.0 T 0.0 T Pathogenic 17_28320473_G->T 17 28320473 28320473 G T snp 241.8 1/1 21 7 0 7 1.0 intronic rs12150261 EFCAB5 AU NM_001145053 exon5 c.49694+134G>T 0.428714 0.7113 Uncertain 17_28405273_C->T 17 28405273 28405273 C T snp 1154.77 0/1 99 83 35 48 0.58 intergenic rs12600352 EFCAB5 AU 0.0247604 0.1131 0.000251 0.0094 0.1246 Uncertain 17_28434827_CTTTT->- 17 28434827 28434831 CTTTT - indel 829.73 1/1 39 13 0 13 1.0 intergenic rs571568028 EFCAB5 AU 0.633986 0.8165 0.537073 0.6130 0.8065 Uncertain 17_28444183_A->C 17 28444183 28444183 A C snp 642.77 1/1 48 21 0 21 1.0 ncRNA_exonic rs6505162 MIR423 AU 0.497804 0.8165 0.378193 0.5283 0.7915 Uncertain 17_28505024_G->A 17 28505024 28505024 G A snp 1008.77 1/1 72 38 0 38 1.0 intronic rs7221154 NSRP1 AU NM_032141 exon4 c.61227-64G>A 0.582268 0.8224 Uncertain 17_28511978_G->A 17 28511978 28511978 G A snp 2966.77 1/1 99 109 0 109 1.0 exonic rs1979572 NSRP1 AU synonymous SNV NM_001261467 exon6 c.G801A p.Q267Q 0.58127 0.8224 0.478010 0.5173 0.8085 Uncertain 17_28538532_C->T 17 28538532 28538532 C T snp 1424.77 1/1 99 50 0 50 1.0 intronic rs140701 SLC6A4 AU,AD NM_001045 exon6 c.12969+90C>T 0.498203 0.8185 Uncertain 17_28549898_G->T 17 28549898 28549898 G T snp 3854.77 1/1 99 145 0 145 1.0 UTR5 rs6354 SLC6A4 AU,AD 0.796326 0.881 Uncertain 17_28549978_G->T 17 28549978 28549978 G T snp 991.77 1/1 75 29 0 29 1.0 intronic rs25528 SLC6A4 AU,AD NM_001045 exon14 c.24460+45G>T 0.728035 0.8829 Uncertain 17_28646137_T->C 17 28646137 28646137 T C snp 141.03 1/1 12 4 0 4 1.0 intronic rs6505174 TMIGD1 AU NM_206832 exon3 c.2227+206T>C 1 1 Uncertain 17_28706114_C->T 17 28706114 28706114 C T snp 1893.77 0/1 99 198 109 89 0.45 exonic rs184488188 CPD AU nonsynonymous SNV NM_001304 exon1 c.C116T p.A39V 0.00259585 0.0119 0.0043 0.0564 0.27 T 1 D -1.131 T 0.998 D 0.691 D Pathogenic 17_28771097_G->A 17 28771097 28771097 G A snp 421.77 1/1 33 11 0 11 1.0 intronic rs1057993 CPD AU NM_001199775 exon11 c.63334+108G>A 0.580471 0.8224 Uncertain 17_28778720_G->C 17 28778720 28778720 G C snp 3144.77 1/1 99 124 0 124 1.0 intronic rs2253256 CPD AU NM_001199775 exon14 c.71073-8G>C 0.68131 0.8224 0.616869 0.5848 0.8193 Uncertain 17_28791619_G->A 17 28791619 28791619 G A snp 3222.65 0/1 99 250 121 129 0.52 exonic rs75135188 CPD AU synonymous SNV NM_001199775 exon21 c.G3189A p.S1063S 0.014976 0.0724 0.000308 0.0062 0.0755 Uncertain 17_28811658_-->T 17 28811658 28811658 - T indel 386.27 1/1 1 20 2 18 0.9 intronic rs397737698 GOSR1 AU NM_001007025 exon4 c.7229-22insT 0.565296 0.7847 0.5138 0.7227 Uncertain 17_28887667_T->C 17 28887667 28887667 T C snp 93.77 0/1 99 69 47 22 0.32 exonic rs78888987 TBC1D29 AU synonymous SNV NM_015594 exon3 c.T111C p.D37D 0.0847 0.1810 Uncertain 17_28890203_T->C 17 28890203 28890203 T C snp 861.77 1/1 63 29 0 29 1.0 intronic rs216455 TBC1D29 AU NM_015594 exon5 c.3485-14T>C 0.561901 0.7629 0.485769 0.5761 0.7839 Uncertain 17_28900708_G->T 17 28900708 28900708 G T snp 237.84 1/1 18 12 0 12 1.0 intergenic rs3764416 TBC1D29 AU 0.828674 0.8591 0.8281 0.8755 Uncertain 17_28901098_T->C 17 28901098 28901098 T C snp 116.77 0/1 99 11 6 5 0.45 intergenic rs117033446 TBC1D29 AU 0.0123802 0.0585 Uncertain 17_28901151_G->C 17 28901151 28901151 G C snp 99.28 1/1 9 4 0 4 1.0 intergenic rs11080128 TBC1D29 AU 0.409345 0.7411 Uncertain 17_29221227_A->T 17 29221227 29221227 A T snp 1040.77 1/1 75 32 0 32 1.0 intronic rs9898911 ATAD5 AU NM_024857 exon21 c.61803+59A>T 0.889976 0.999 Uncertain 17_29221277_C->T 17 29221277 29221277 C T snp 218.77 0/1 99 13 5 8 0.62 intronic rs62070652 ATAD5 AU NM_024857 exon21 c.61803+109C>T 0.175319 0.0972 Uncertain 17_29226630_T->A 17 29226630 29226630 T A snp 342.77 0/1 99 25 12 13 0.52 splicing rs28539246 TEFM AU NM_024683 exon1 c.438+6T>A 0.479433 0.2331 0.427905 0.4035 0.2364 Pathogenic 17_29226652_A->G 17 29226652 29226652 A G snp 198.77 0/1 99 12 4 8 0.67 intronic rs9897628 TEFM AU NM_024683 exon1 c.438+28A>G 0.479433 0.2331 0.475749 0.4097 0.2419 Uncertain 17_29258847_A->- 17 29258847 29258847 A - indel 56.73 0/1 94 14 8 6 0.43 intronic rs369963418 ADAP2 AU NM_018404 exon4 c.9874-59delA Uncertain 17_29486152_G->A 17 29486152 29486152 G A snp 2233.77 0/1 99 209 109 100 0.48 intronic rs2952976 NF1 AD,AO NM_001042492 exon3 c.63784+41G>A 0.509784 0.5486 0.574142 0.6230 0.5588 Uncertain 17_29496819_C->T 17 29496819 29496819 C T snp 153.77 0/1 99 9 4 5 0.56 intronic rs2905807 NF1 AD,AO NM_001042492 exon5 c.74581-89C>T 0.488419 0.5506 Uncertain 17_29508775_G->A 17 29508775 29508775 G A snp 450.77 0/1 99 42 24 18 0.43 exonic rs1801052 NF1 AD,AO synonymous SNV NM_000267 exon7 c.G702A p.L234L 0.511781 0.5506 0.574396 0.6228 0.5566 CLINSIG=non-pathogenic;CLNDBN=Hereditary_cancer-predisposing_syndrome;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000162647.1;CLNDSDB=MedGen:SNOMED_CT;CLNDSDBID=C0027672:699346009 ID=COSM3755378;OCCURENCE=1(large_intestine) Uncertain 17_29508819_-->T 17 29508819 29508819 - T indel 86.73 0/1 99 47 17 30 0.64 intronic rs373999174 NF1 AD,AO NM_001042492 exon7 c.86476+16insT 0.3108 0.2859 Uncertain 17_29509791_C->T 17 29509791 29509791 C T snp 98.77 0/1 99 9 5 4 0.44 intronic rs2953000 NF1 AD,AO NM_001042492 exon8 c.87356+108C>T 0.478035 0.4702 Uncertain 17_29545987_-->T 17 29545987 29545987 - T indel 419.73 0/1 99 42 24 18 0.43 intronic rs112806382 NF1 AD,AO NM_001042492 exon14 c.123695-35insT 0.51877 0.5516 0.6585 0.6139 Uncertain 17_29546175_T->C 17 29546175 29546175 T C snp 1079.77 0/1 99 90 45 45 0.5 intronic rs2905880 NF1 AD,AO NM_001042492 exon14 c.123809+39T>C 0.473442 0.5516 0.535983 0.6340 0.5833 Uncertain 17_29553336_-->AC 17 29553336 29553336 - AC indel 197.73 0/1 99 14 5 9 0.64 intronic rs141114572 NF1 AD,AO NM_001042492 exon18 c.131125-116insAC 0.403954 0.3671 Uncertain 17_29553485_G->A 17 29553485 29553485 G A snp 2623.77 0/1 99 211 99 112 0.53 exonic rs2285892 NF1 AD,AO synonymous SNV NM_000267 exon18 c.G2034A p.P678P 0.496805 0.5258 0.416346 0.3827 0.5333 CLINSIG=non-pathogenic;CLNDBN=Hereditary_cancer-predisposing_syndrome;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000162648.1;CLNDSDB=MedGen:SNOMED_CT;CLNDSDBID=C0027672:699346009 Uncertain 17_29558082_T->C 17 29558082 29558082 T C snp 379.77 0/1 99 21 9 12 0.57 intronic rs2071009 NF1 AD,AO NM_001042492 exon24 c.135616+139T>C 0.546126 0.5526 Uncertain 17_29559588_G->C 17 29559588 29559588 G C snp 139.03 1/1 12 4 0 4 1.0 intronic rs2072131 NF1 AD,AO NM_001042492 exon26 c.137390-129G>C 0.526158 0.4504 Uncertain 17_29559932_C->A 17 29559932 29559932 C A snp 843.77 0/1 99 96 64 32 0.33 intronic rs2066736 NF1 AD,AO NM_001042492 exon26 c.137572+33C>A 0.458067 0.4474 0.390358 0.3676 0.4415 Uncertain 17_29563073_-->TG 17 29563073 29563073 - TG indel 1356.73 0/1 99 69 25 44 0.64 intronic rs371036783 NF1 AD,AO NM_001042492 exon29 c.140712+34insTG 0.00998403 0.0169 0.0010 0.0008 Uncertain 17_29563085_T->G 17 29563085 29563085 T G snp 786.77 0/1 99 55 24 31 0.56 intronic rs72813695 NF1 AD,AO NM_001042492 exon29 c.140712+46T>G 0.0988419 0.0536 0.0054 0.0056 Uncertain 17_29646032_G->A 17 29646032 29646032 G A snp 2965.77 0/1 99 240 124 116 0.48 exonic rs1129506 EVI2A AU synonymous SNV NM_001003927 exon3 c.C69T p.S23S 0.591853 0.4474 0.666077 0.5966 0.4391 Uncertain 17_29647362_A->T 17 29647362 29647362 A T snp 39.77 0/1 68 30 22 8 0.27 intronic rs34004645 EVI2A AU NM_001003927 exon2 c.2070-28A>T 0.2300 0.1658 Uncertain 17_29653293_T->C 17 29653293 29653293 T C snp 1538.77 0/1 99 124 60 64 0.52 intronic rs9894648 NF1 AD,AO NM_001042492 exon37 c.230943+23T>C 0.605831 0.4494 0.676688 0.6001 0.4444 Uncertain 17_29654876_T->A 17 29654876 29654876 T A snp 410.77 0/1 99 21 8 13 0.62 intronic rs2285894 NF1 AD,AO NM_001042492 exon38 c.232530+19T>A 0.431909 0.371 0.516223 0.5364 0.3533 ID=CS1111793;DIS=Neurofibromatosis 1;TAG=R;PUB=22155606 R Uncertain 17_29663625_T->A 17 29663625 29663625 T A snp 30.77 0/1 33 7 3 4 0.57 intronic rs7406039 NF1 AD,AO NM_001042492 exon42 c.241325-27T>A 0.473442 0.4464 0.004586 0.5556 0.4020 Uncertain 17_29670190_C->G 17 29670190 29670190 C G snp 1193.77 1/1 87 37 0 37 1.0 intronic rs7405740 NF1 AD,AO NM_001042492 exon48 c.247826+37C>G 0.873802 0.9028 0.883118 0.9069 0.8881 Uncertain 17_29675971_T->A 17 29675971 29675971 T A snp 158.77 0/1 97 8 3 5 0.63 intronic rs2525569 NF1 AD,AO NM_001042492 exon49 c.253810-166T>A 0.424521 0.369 Uncertain 17_29679246_G->A 17 29679246 29679246 G A snp 465.77 0/1 99 61 39 22 0.36 intronic rs964288 NF1 AD,AO NM_001042492 exon51 c.256947-28G>A 0.430911 0.369 0.513378 0.5334 0.3477 Uncertain 17_29684553_C->T 17 29684553 29684553 C T snp 294.77 0/1 99 21 10 11 0.52 intronic rs7350943 NF1 AD,AO NM_001042492 exon54 c.262060+166C>T 0.402356 0.3681 Uncertain 17_29705947_T->C 17 29705947 29705947 T C snp 3018.77 0/1 99 248 119 129 0.52 intergenic rs2525574 NF1 AD,AO 0.426318 0.3631 0.5923 0.3824 0.000 P Uncertain 17_29815385_G->T 17 29815385 29815385 G T snp 968.77 0/1 99 88 46 42 0.48 intronic rs57391434 RAB11FIP4 AU NM_001303542 exon1 c.30+95G>T 0.327276 0.4405 0.5 . Uncertain 17_29815404_T->G 17 29815404 29815404 T G snp 2204.77 1/1 99 88 0 88 1.0 intronic rs8075239 RAB11FIP4 AU NM_001303542 exon1 c.30+114T>G 0.885982 0.9345 0.8333 . Uncertain 17_29844658_C->G 17 29844658 29844658 C G snp 1111.77 0/1 99 86 45 41 0.48 intronic rs3744619 RAB11FIP4 AU NM_032932 exon4 c.125798-10C>G 0.513179 0.5615 0.354901 0.4946 0.6491 Uncertain 17_29844909_A->G 17 29844909 29844909 A G snp 1412.77 0/1 99 137 78 59 0.43 intronic rs3744618 RAB11FIP4 AU NM_032932 exon4 c.126025+14A>G 0.455272 0.5585 0.257740 0.4161 0.5540 Uncertain 17_29850691_G->A 17 29850691 29850691 G A snp 1251.77 0/1 99 131 75 56 0.43 intronic rs2074146 RAB11FIP4 AU NM_032932 exon8 c.131759+62G>A 0.150359 0.3165 Uncertain 17_29852092_A->G 17 29852092 29852092 A G snp 1290.77 0/1 99 117 57 60 0.51 intronic rs2023795 RAB11FIP4 AU NM_032932 exon10 c.133237-15A>G 0.732428 0.8016 0.746722 0.6733 0.7949 Uncertain 17_30183663_-->C 17 30183663 30183663 - C indel 132.73 0/1 99 14 9 5 0.36 intronic rs71142094 COPRS AU NM_018405 exon3 c.4660-154insC 0.757188 0.8492 0.8158 0.8513 Uncertain 17_30183857_T->C 17 30183857 30183857 T C snp 614.77 0/1 99 47 21 26 0.55 exonic rs8068049 COPRS AU nonsynonymous SNV NM_018405 exon2 c.A127G p.S43G 0.903954 0.8681 0.907581 0.8826 0.8757 1 T 0.0 P -0.990 T 0.0 T 0.0 T Pathogenic 17_30185565_G->A 17 30185565 30185565 G A snp 379.77 0/1 85 16 3 13 0.81 intronic rs9906443 COPRS AU NM_018405 exon4 c.6962-554G>A 0.764177 0.8472 Uncertain 17_30185892_A->G 17 30185892 30185892 A G snp 739.77 0/1 99 60 29 31 0.52 intronic rs11542477 COPRS AU NM_018405 exon4 c.6962-227A>G 0.886382 0.8671 Uncertain 17_30192244_C->T 17 30192244 30192244 C T snp 43.77 0/1 60 4 2 2 0.5 intronic rs62062387 UTP6 AU NM_018428 exon2 c.2007-140C>T 0.66274 0.8433 Uncertain 17_30192245_T->G 17 30192245 30192245 T G snp 43.77 0/1 68 4 2 2 0.5 intronic rs9913612 UTP6 AU NM_018428 exon2 c.2007-139T>G 0.722843 0.8442 Uncertain 17_30192249_C->T 17 30192249 30192249 C T snp 40.77 0/1 69 5 3 2 0.4 intronic rs9906822 UTP6 AU NM_018428 exon2 c.2007-135C>T 0.722244 0.8442 Uncertain 17_30219500_C->G 17 30219500 30219500 C G snp 122.77 0/1 66 7 2 5 0.71 intronic rs1034626 UTP6 AU NM_018428 exon14 c.28965+158C>G 0.144768 0.1339 Uncertain 17_30222002_T->C 17 30222002 30222002 T C snp 806.77 0/1 99 67 31 36 0.54 exonic rs3760454 UTP6 AU nonsynonymous SNV NM_018428 exon3 c.A206G p.Q69R 0.355431 0.6458 0.330896 0.4413 0.6636 1 T 0.786 P -0.988 T 0.075 T 0.029 T Pathogenic 17_30228656_G->A 17 30228656 30228656 G A snp 1070.77 0/1 99 106 59 47 0.44 UTR5 rs2074101 UTP6 AU 0.296925 0.1528 0.284407 0.2508 0.1498 Uncertain 17_30376268_T->C 17 30376268 30376268 T C snp 372.77 0/1 99 248 187 61 0.25 exonic rs139379458 LRRC37B AU nonsynonymous SNV NM_052888 exon10 c.T2531C p.L844S 0.000538 0.0049 0.0096 0.67 T 1 N -0.970 T 0.0 T 0.0 T Pathogenic 17_30469471_CCG->- 17 30469471 30469473 CCG - indel 497.73 1/1 33 19 0 19 1.0 UTR5 rs754162268 RHOT1 AU 0 0 Uncertain 17_30509939_C->G 17 30509939 30509939 C G snp 770.77 1/1 57 22 0 22 1.0 intronic rs6505286 RHOT1 AU NM_018307 exon7 c.40173+55C>G 0.999401 0.997 Uncertain 17_30625205_G->A 17 30625205 30625205 G A snp 878.77 0/1 99 70 29 41 0.59 exonic rs4795690 RHBDL3 AU nonsynonymous SNV NM_138328 exon6 c.G763A p.V255M 0.260383 0.4167 0.159696 0.2057 0.3980 0.19 T 0.999 P -0.929 T 0.931 T 0.403 D Pathogenic 17_30643361_A->G 17 30643361 30643361 A G snp 807.77 1/1 60 25 0 25 1.0 intronic rs2344973 RHBDL3 AU NM_138328 exon8 c.50103+50A>G 0.814097 0.619 0.835922 0.7961 0.5997 Uncertain 17_30659006_T->A 17 30659006 30659006 T A snp 515.77 1/1 39 15 0 15 1.0 intronic rs1019152 C17orf75 AU NM_022344 exon1 c.216+9T>A 0.821286 0.6865 0.819503 0.7837 0.6527 Uncertain 17_30696575_C->T 17 30696575 30696575 C T snp 2111.77 0/1 99 155 75 80 0.52 intronic rs752902684 ZNF207 AU NM_003457 exon11 c.19313-42C>T 9.012e-06 0 Uncertain 17_30800763_A->T 17 30800763 30800763 A T snp 548.77 0/1 99 38 13 25 0.66 intronic rs147620379 PSMD11 AU NM_002815 exon7 c.29277-55A>T 0.00798722 0.0129 Uncertain 17_30806461_C->T 17 30806461 30806461 C T snp 555.77 0/1 99 32 14 18 0.56 intronic rs191761038 PSMD11 AU NM_002815 exon10 c.34853+67C>T 0.000399361 0.002 Uncertain 17_30980972_G->A 17 30980972 30980972 G A snp 729.77 0/1 99 95 61 34 0.36 intronic rs2249638 MYO1D AU NM_015194 exon4 c.159189+7G>A 0.646765 0.7361 0.654621 0.6826 0.7631 Uncertain 17_31039255_T->C 17 31039255 31039255 T C snp 651.77 0/1 99 54 29 25 0.46 intronic rs11080184 MYO1D AU NM_015194 exon7 c.217437+42T>C 0.507388 0.7242 0.430724 0.4833 0.7548 Uncertain 17_31072453_A->G 17 31072453 31072453 A G snp 191.77 0/1 99 16 8 8 0.5 intronic rs6505311 MYO1D AU NM_015194 exon10 c.250527+150A>G 0.485823 0.7212 Uncertain 17_31082747_T->C 17 31082747 31082747 T C snp 120.77 0/1 99 18 13 5 0.28 intronic rs4548927 MYO1D AU NM_015194 exon12 c.260904+67T>C 0.581669 0.7242 Uncertain 17_31107845_A->G 17 31107845 31107845 A G snp 801.77 0/1 99 50 24 26 0.52 intronic rs10512439 MYO1D AU NM_015194 exon21 c.286026+43A>G 0.491414 0.7242 0.414642 0.4875 0.7553 Uncertain 17_31204005_G->C 17 31204005 31204005 G C snp 498.77 0/1 99 25 8 17 0.68 UTR5 rs118039764 MYO1D AU 0.321885 0.3294 Uncertain 17_31266419_T->C 17 31266419 31266419 T C snp 387.77 0/1 99 59 38 21 0.36 intronic rs2726134 TMEM98 AD NM_015544 exon7 c.7948-75T>C 0.706669 0.4792 Uncertain 17_31266438_-->AAGG 17 31266438 31266438 - AAGG indel 1687.73 0/1 99 112 67 45 0.4 intronic rs377006515 TMEM98 AD NM_015544 exon7 c.7948-56insAAGG 0.505591 0.3978 Uncertain 17_31319160_T->C 17 31319160 31319160 T C snp 459.77 1/1 36 14 0 14 1.0 intronic rs2346391 SPACA3 AU NM_173847 exon1 c.34+170T>C 0.414337 0.5685 Uncertain 17_31323728_-->G 17 31323728 31323728 - G indel 1670.73 1/1 99 42 0 42 1.0 intronic rs140981292 SPACA3 AU NM_173847 exon3 c.4904-132insG Uncertain 17_31324077_C->A 17 31324077 31324077 C A snp 691.77 0/1 99 34 11 23 0.68 intronic rs28904 SPACA3 AU NM_173847 exon3 c.5063+58C>A 0.215455 0.3929 Uncertain 17_31324362_-->GTGTAG 17 31324362 31324362 - GTGTAG indel 2579.73 0/1 99 67 29 38 0.57 intronic rs140846693 SPACA3 AU NM_173847 exon4 c.5506-100insGTGTAG Uncertain 17_31324657_T->C 17 31324657 31324657 T C snp 1609.77 0/1 99 128 62 66 0.52 intronic rs28958 SPACA3 AU NM_173847 exon5 c.5773-72T>C 0.508387 0.4226 Uncertain 17_31344549_T->C 17 31344549 31344549 T C snp 490.77 0/1 99 48 26 22 0.46 intronic rs2074215 ASIC2 AU NM_001094 exon3 c.3640-73T>C 0.597444 0.5079 Uncertain 17_31351121_A->G 17 31351121 31351121 A G snp 40.77 0/1 33 3 1 2 0.67 intronic rs16569 ASIC2 AU NM_001094 exon5 c.10050+89A>G 0.616414 0.5655 Uncertain 17_31355227_-->G 17 31355227 31355227 - G indel 1420.73 1/1 99 37 0 37 1.0 intronic rs397708703 ASIC2 AU NM_001094 exon7 c.14277-32insG 1 1 1.0000 1 Uncertain 17_31618732_A->G 17 31618732 31618732 A G snp 6515.77 1/1 99 232 0 232 1.0 exonic rs9893935 ASIC2 AU synonymous SNV NM_183377 exon1 c.T402C p.T134T 0.559904 0.7649 0.515722 0.5165 0.7458 Uncertain 17_31618997_C->A 17 31618997 31618997 C A snp 319.77 0/1 99 26 15 11 0.42 exonic rs112647385 ASIC2 AU nonsynonymous SNV NM_183377 exon1 c.G137T p.R46L 0.217851 0.3194 0.4020 0.625 0.29 T 0.000 P -1.036 T 0.02 T 0.005 T Pathogenic 17_32364722_T->C 17 32364722 32364722 T C snp 946.77 0/1 99 101 43 58 0.57 intergenic rs4795846 AA06 AU 0.57528 0.495 Uncertain 17_32583132_G->C 17 32583132 32583132 G C snp 478.77 0/1 99 33 17 16 0.48 intronic rs2857657 CCL2 AU,AD NM_002982 exon2 c.872-108G>C 0.904952 0.9286 Uncertain 17_32583269_T->C 17 32583269 32583269 T C snp 1728.77 0/1 99 180 105 75 0.42 exonic rs4586 CCL2 AU,AD synonymous SNV NM_002982 exon2 c.T105C p.C35C 0.542332 0.5456 0.464017 0.4420 0.5627 Uncertain 17_32583911_C->T 17 32583911 32583911 C T snp 1883.77 0/1 99 148 66 82 0.55 UTR3 rs13900 CCL2 AU,AD 0.363219 0.5466 Uncertain 17_32598293_G->A 17 32598293 32598293 G A snp 422.77 0/1 99 42 26 16 0.38 intronic rs2302160 CCL7 AU NM_006273 exon2 c.973+11G>A 0.00658946 0.0317 0.000154 0.0029 0.0381 Uncertain 17_32613132_A->T 17 32613132 32613132 A T snp 101.77 0/1 99 13 9 4 0.31 intronic rs1860184 CCL11 AU,AD NM_002986 exon1 c.76+229A>T 0.384585 0.5605 Uncertain 17_32614442_T->C 17 32614442 32614442 T C snp 167.77 0/1 99 22 14 8 0.36 intronic rs4795898 CCL11 AU,AD NM_002986 exon3 c.1776-161T>C 0.105631 0.1349 Uncertain 17_32647544_A->G 17 32647544 32647544 A G snp 534.77 0/1 99 32 12 20 0.63 intronic rs3138036 CCL8 AU NM_005623 exon2 c.885+139A>G 0.226038 0.2986 Uncertain 17_32647744_T->C 17 32647744 32647744 T C snp 543.77 0/1 99 21 6 15 0.71 intronic rs3138037 CCL8 AU NM_005623 exon3 c.1300-76T>C 0.227236 0.2986 Uncertain 17_32647831_A->C 17 32647831 32647831 A C snp 1016.77 0/1 99 75 32 43 0.57 exonic rs1133763 CCL8 AU nonsynonymous SNV NM_005623 exon3 c.A205C p.K69Q 0.227236 0.2986 0.130863 0.2046 0.3169 0.06 T 0.0 P -0.917 T 0.871 T 0.588 P Pathogenic 17_32684991_G->A 17 32684991 32684991 G A snp 559.77 1/1 42 17 0 17 1.0 intronic rs2072069 CCL13 AU NM_005408 exon3 c.1499-53G>A 0.439497 0.4643 Uncertain 17_32688712_T->C 17 32688712 32688712 T C snp 505.77 1/1 39 16 0 16 1.0 intronic rs159271 CCL1 AU NM_002981 exon2 c.1226-91T>C 0.902756 1 Uncertain 17_32904480_G->A 17 32904480 32904480 G A snp 1113.77 0/1 99 102 57 45 0.44 UTR3 rs887231 C17orf102 AU 0.629593 0.5258 Uncertain 17_32904586_C->T 17 32904586 32904586 C T snp 4971.77 1/1 99 187 0 187 1.0 exonic rs887230 C17orf102 AU nonsynonymous SNV NM_207454 exon2 c.G464A p.R155K 0.796526 0.7778 0.857522 0.8248 0.7667 0 D 0.0 P -1.048 T 0.0 T 0.0 T Pathogenic 17_32906008_C->G 17 32906008 32906008 C G snp 2796.77 0/1 99 243 121 122 0.5 exonic rs58529418 C17orf102 AU nonsynonymous SNV NM_207454 exon1 c.G292C p.G98R 0.15016 0.2361 0.078779 0.1115 0.2320 0 D 0.0 P -1.033 T 0.538 P 0.322 P Pathogenic 17_32908064_T->C 17 32908064 32908064 T C snp 3584.77 1/1 99 143 0 143 1.0 UTR5 rs4795938 TMEM132E AU 0.865415 0.8562 0.894694 0.8465 0.8443 Uncertain 17_32908210_T->C 17 32908210 32908210 T C snp 814.77 0/1 99 67 33 34 0.51 intronic rs7218304 TMEM132E AU NM_207313 exon1 c.67+48T>C 0.623203 0.5496 0.811423 0.5867 0.4944 Uncertain 17_32908217_G->A 17 32908217 32908217 G A snp 781.77 0/1 99 66 35 31 0.47 intronic rs7212426 TMEM132E AU NM_207313 exon1 c.67+55G>A 0.195487 0.2421 Uncertain 17_32953258_G->A 17 32953258 32953258 G A snp 727.77 0/1 99 72 38 34 0.47 exonic rs4795954 TMEM132E AU synonymous SNV NM_001304438 exon2 c.G180A p.E60E 0.178315 0.3403 0.102464 0.2548 0.4605 Uncertain 17_32955463_G->A 17 32955463 32955463 G A snp 750.77 0/1 99 55 23 32 0.58 intronic rs56245017 TMEM132E AU NM_207313 exon4 c.47486-118G>A 0.178714 0.3403 Uncertain 17_32956286_G->A 17 32956286 32956286 G A snp 40.77 0/1 31 3 1 2 0.67 intronic rs758403 TMEM132E AU NM_207313 exon5 c.48128+63G>A 0.470847 0.5129 Uncertain 17_32956933_-->G 17 32956933 32956933 - G indel 117.87 1/1 15 5 0 5 1.0 intronic rs375949886 TMEM132E AU NM_207313 exon6 c.48931-93insG 0.564097 0.6181 Uncertain 17_32956955_T->C 17 32956955 32956955 T C snp 224.77 0/1 99 17 9 8 0.47 intronic rs56187143 TMEM132E AU NM_207313 exon6 c.48931-71T>C 0.247404 0.3452 Uncertain 17_32961751_C->A 17 32961751 32961751 C A snp 704.77 1/1 54 22 0 22 1.0 intronic rs2058164 TMEM132E AU NM_207313 exon8 c.53722-66C>A 0.737819 0.8601 Uncertain 17_32965285_C->A 17 32965285 32965285 C A snp 508.77 0/1 99 42 17 25 0.6 UTR3 rs11080288 TMEM132E AU 0.3686 0.4214 Uncertain 17_32965285_-->CA 17 32965285 32965285 - CA indel 680.74 0/1 26 42 7 35 0.83 UTR3 rs368775416 TMEM132E AU 0.056523 0.0756 0.0702 Uncertain 17_33286664_A->G 17 33286664 33286664 A G snp 6587.77 1/1 99 244 0 244 1.0 exonic rs2230552 CCT6B AU nonsynonymous SNV NM_001193529 exon2 c.T143C p.V48A 0.290935 0.5278 0.182685 0.2447 0.5562 0 D 1.000 P -1.028 T 0.999 D 0.979 D Pathogenic 17_33286848_A->C 17 33286848 33286848 A C snp 466.77 1/1 36 12 0 12 1.0 intronic rs4796025 CCT6B AU NM_001193529 exon12 c.31603+179A>C 1 1 Uncertain 17_33288363_C->T 17 33288363 33288363 C T snp 2025.77 1/1 99 87 0 87 1.0 exonic rs9635769 CCT6B AU nonsynonymous SNV NM_001193529 exon1 c.G50A p.R17Q 0.548722 0.8353 0.490082 0.5612 0.8369 0.39 T 0.000 P -1.079 T 0.0 T 0.0 T Pathogenic 17_33288882_T->G 17 33288882 33288882 T G snp 7403.77 1/1 99 250 0 250 1.0 exonic rs931196 ZNF830 AU nonsynonymous SNV NM_052857 exon1 c.T297G p.H99Q 0.881989 0.9286 0.887975 0.9431 0.9244 1 T 0.0 P -0.983 T 0.0 T 0.0 T Pathogenic 17_33289046_G->C 17 33289046 33289046 G C snp 2654.77 0/1 99 245 127 118 0.48 exonic rs3744355 ZNF830 AU nonsynonymous SNV NM_052857 exon1 c.G461C p.S154T 0.127196 0.3214 0.078272 0.0996 0.3025 0.61 T 0.000 P -0.919 T 0.002 T 0.002 T Pathogenic 17_33307701_C->- 17 33307701 33307701 C - indel 1299.73 1/1 99 36 0 36 1.0 intronic rs57311484 LIG3 AU 1 1 Uncertain 17_33325605_TCTT->- 17 33325605 33325608 TCTT - indel 11346.7 1/1 99 163 0 163 1.0 intronic rs147265750 LIG3 AU NM_013975 exon14 c.15598-17_15598-14delTCTT 0.0227636 0.0853 0.003514 0.0116 0.0985 Uncertain 17_33326780_G->A 17 33326780 33326780 G A snp 5337.77 1/1 99 194 0 194 1.0 intronic rs2066505 LIG3 AU NM_013975 exon16 c.16776-20G>A 0.283347 0.1498 0.281793 0.1720 0.1541 Uncertain 17_33330150_A->C 17 33330150 33330150 A C snp 1392.77 1/1 99 52 0 52 1.0 intronic rs4796030 LIG3 AU NM_002311 exon20 c.20167-41A>C 0.616014 0.4603 Uncertain 17_33339283_G->C 17 33339283 33339283 G C snp 294.78 1/1 24 9 0 9 1.0 ncRNA_intronic rs2074520 RAD51L3-RFFL AU 0.247204 0.1548 Uncertain 17_33341834_T->C 17 33341834 33341834 T C snp 4172.77 1/1 99 160 0 160 1.0 ncRNA_intronic rs2074519 RAD51L3-RFFL AU 0.609625 0.4524 0.661854 0.5989 0.4466 Uncertain 17_33342022_C->G 17 33342022 33342022 C G snp 96.28 1/1 9 3 0 3 1.0 ncRNA_intronic rs2269857 RAD51L3-RFFL AU 0.277756 0.1508 Uncertain 17_33353332_T->C 17 33353332 33353332 T C snp 170.9 1/1 15 6 0 6 1.0 ncRNA_intronic rs3926358 RAD51L3-RFFL AU 0.685104 0.6062 Uncertain 17_33433820_A->G 17 33433820 33433820 A G snp 535.77 1/1 42 16 0 16 1.0 ncRNA_intronic rs936656 RAD51L3-RFFL AU 0.553115 0.5298 Uncertain 17_33443770_C->T 17 33443770 33443770 C T snp 2015.77 1/1 99 61 0 61 1.0 ncRNA_intronic rs9915609 RAD51L3-RFFL AU 0.0914537 0.1508 Uncertain 17_33445549_G->A 17 33445549 33445549 G A snp 4496.77 1/1 99 179 2 177 0.99 exonic rs9901455 RAD51D AU synonymous SNV NM_002878 exon3 c.C234T p.S78S 0.1875 0.2262 0.158542 0.1184 0.2331 CLINSIG=non-pathogenic;CLNDBN=Hereditary_cancer-predisposing_syndrome;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000162563.1;CLNDSDB=MedGen:SNOMED_CT;CLNDSDBID=C0027672:699346009 Uncertain 17_33448818_T->C 17 33448818 33448818 T C snp 6078.77 1/1 99 233 0 233 1.0 exonic rs1871892 FNDC8 AU nonsynonymous SNV NM_017559 exon1 c.T106C p.S36P 0.840256 0.9137 0.741350 0.7532 0.9028 1 T 0.000 P -0.988 T 0.0 T 0.0 T Pathogenic 17_33454415_C->A 17 33454415 33454415 C A snp 4091.77 1/1 99 137 2 135 0.99 exonic rs2306508 FNDC8 AU synonymous SNV NM_017559 exon2 c.C564A p.T188T 0.444489 0.7123 0.334384 0.4577 0.7020 Uncertain 17_33463447_C->T 17 33463447 33463447 C T snp 1036.77 0/1 99 88 42 46 0.52 exonic NLE1 AU nonsynonymous SNV NM_001014445 exon7 c.G22A p.A8T 0.23 T 0.990 D -0.904 T 0.656 T 0.328 P Pathogenic 17_33463568_C->T 17 33463568 33463568 C T snp 391.77 1/1 30 10 0 10 1.0 intronic rs3736143 NLE1 AU NM_018096 exon6 c.4061+52C>T 0.566693 0.7857 0.463696 0.5222 0.7741 Uncertain 17_33464864_C->T 17 33464864 33464864 C T snp 1268.77 1/1 93 45 0 45 1.0 exonic rs7215209 NLE1 AU nonsynonymous SNV NM_018096 exon5 c.G506A p.R169K 0.848842 0.9137 0.770567 0.7800 0.9023 1 T 1.000 P -0.961 T 0.0 T 0.001 T Pathogenic 17_33469279_G->C 17 33469279 33469279 G C snp 1467.77 1/1 99 51 0 51 1.0 exonic rs1471615 NLE1 AU nonsynonymous SNV NM_018096 exon1 c.C16G p.P6A 0.993411 1 0.986745 0.9897 1 0.47 T 0.0 P -0.984 T 0.0 T 0.0 T Pathogenic 17_33478112_T->C 17 33478112 33478112 T C snp 173.8 0/1 21 7 1 6 0.86 intronic rs142128004 UNC45B AD NM_173167 exon4 c.1960+870T>C Uncertain 17_33478128_T->G 17 33478128 33478128 T G snp 7972.77 1/1 99 250 1 249 1.0 intronic rs62062407 UNC45B AD NM_173167 exon4 c.1960+886T>G Uncertain 17_33478140_A->G 17 33478140 33478140 A G snp 8420.77 1/1 99 250 1 249 1.0 intronic rs8078358 UNC45B AD NM_173167 exon4 c.1960+898A>G Uncertain 17_33478187_A->G 17 33478187 33478187 A G snp 8605.77 1/1 99 250 1 249 1.0 intronic rs62062408 UNC45B AD NM_173167 exon4 c.1960+945A>G 0 0 Uncertain 17_33478216_T->C 17 33478216 33478216 T C snp 3133.77 0/1 99 249 138 111 0.45 intronic rs12165042 UNC45B AD NM_173167 exon4 c.1960+974T>C Uncertain 17_33478229_A->T 17 33478229 33478229 A T snp 7579.77 1/1 99 240 4 236 0.98 intronic rs28625679 UNC45B AD NM_173167 exon4 c.1960+987A>T 0.0027 0 Uncertain 17_33478303_A->C 17 33478303 33478303 A C snp 4209.77 1/1 99 130 2 128 0.98 intronic rs62062409 UNC45B AD NM_173167 exon4 c.1960+1061A>C Uncertain 17_33478323_T->C 17 33478323 33478323 T C snp 4151.77 1/1 99 130 2 128 0.98 intronic rs62062410 UNC45B AD NM_173167 exon4 c.1960+1081T>C Uncertain 17_33478344_T->G 17 33478344 33478344 T G snp 4112.77 1/1 99 124 2 122 0.98 intronic rs62062411 UNC45B AD NM_173167 exon4 c.1960+1102T>G ID=COSN138707;OCCURENCE=1(skin) Likely pathogenic 17_33478356_A->G 17 33478356 33478356 A G snp 3798.77 1/1 99 116 1 115 0.99 intronic rs62062412 UNC45B AD NM_173167 exon4 c.1960+1114A>G Uncertain 17_33495341_G->A 17 33495341 33495341 G A snp 2062.77 0/1 99 172 80 92 0.53 exonic rs35879240 UNC45B AD synonymous SNV NM_173167 exon10 c.G1413A p.K471K 0.0648962 0.2212 0.007151 0.0319 0.1919 Uncertain 17_33497331_A->G 17 33497331 33497331 A G snp 236.77 0/1 99 16 6 10 0.63 intronic rs7213921 UNC45B AD NM_173167 exon12 c.21998+51A>G 0.501398 0.5149 0.507775 0.5116 0.5255 Uncertain 17_33501432_C->T 17 33501432 33501432 C T snp 71.77 0/1 99 9 6 3 0.33 intronic rs1384220 UNC45B AD NM_173167 exon14 c.26106+44C>T 0.571486 0.7202 0.528295 0.5625 0.6935 Uncertain 17_33504809_C->T 17 33504809 33504809 C T snp 215.77 0/1 99 15 6 9 0.6 intronic rs4795065 UNC45B AD NM_173167 exon17 c.29347+180C>T 0.608027 0.7192 Uncertain 17_33513649_A->G 17 33513649 33513649 A G snp 473.77 0/1 99 43 24 19 0.44 UTR3 rs3744366 UNC45B AD 0.507388 0.5575 Uncertain 17_33679204_-->A 17 33679204 33679204 - A indel 908.73 1/1 72 24 0 24 1.0 UTR3 rs397766128 SLFN11 AU 0.98762 1 Uncertain 17_33680807_G->A 17 33680807 33680807 G A snp 812.77 1/1 63 48 14 34 0.71 exonic rs9897352 SLFN11 AU synonymous SNV NM_152270 exon4 c.C1470T p.T490T 0.755391 0.9107 0.7331 0.9352 Uncertain 17_33680840_T->C 17 33680840 33680840 T C snp 1716.77 1/1 99 55 0 55 1.0 exonic rs28571667 SLFN11 AU synonymous SNV NM_152270 exon4 c.A1437G p.Q479Q 0.9956 1 Uncertain 17_33689926_T->C 17 33689926 33689926 T C snp 7111.77 1/1 99 250 1 249 1.0 exonic rs4796077 SLFN11 AU nonsynonymous SNV NM_152270 exon2 c.A901G p.N301D 0.961462 0.9653 0.960095 0.9656 0.9797 1 T 0.0 P -0.951 T 0.0 T 0.0 T Pathogenic 17_33690466_C->A 17 33690466 33690466 C A snp 6858.77 1/1 99 229 0 229 1.0 exonic rs12453150 SLFN11 AU nonsynonymous SNV NM_152270 exon2 c.G361T p.V121F 0.416134 0.4821 0.441335 0.5002 0.4961 0.77 T 0.0 P -0.923 T 0.001 T 0.002 T Pathogenic 17_33690863_G->T 17 33690863 33690863 G T snp 1565.77 1/1 99 57 0 57 1.0 intronic rs4796078 SLFN11 AU NM_001104589 exon4 c.11471+18G>T 0.98762 1 0.986148 0.9956 1 Uncertain 17_33768199_G->A 17 33768199 33768199 G A snp 4957.77 1/1 99 170 0 170 1.0 exonic rs1822403 SLFN13 AU synonymous SNV NM_144682 exon6 c.C2109T p.D703D 0.370208 0.3849 0.409503 0.3555 0.4101 Uncertain 17_33768354_C->T 17 33768354 33768354 C T snp 1880.77 1/1 99 66 0 66 1.0 exonic rs3744371 SLFN13 AU nonsynonymous SNV NM_144682 exon6 c.G1954A p.E652K 0.648962 0.6508 0.580947 0.5536 0.6457 1 T 0.0 P -0.955 T 0.0 T 0.0 T Pathogenic 17_33769034_G->A 17 33769034 33769034 G A snp 1391.77 0/1 99 200 110 90 0.45 exonic rs62078110 SLFN13 AU synonymous SNV NM_144682 exon5 c.C1470T p.T490T 0.45607 0.4921 0.4515 0.5050 Uncertain 17_33770706_G->A 17 33770706 33770706 G A snp 487.77 0/1 99 31 15 16 0.52 intronic rs16970975 SLFN13 AU NM_144682 exon3 c.3194-101G>A 0.360623 0.6042 Uncertain 17_33770802_C->T 17 33770802 33770802 C T snp 2044.77 0/1 99 154 65 89 0.58 splicing rs10512469 SLFN13 AU NM_144682 exon3 c.3194-5C>T 0.330471 0.6052 0.234123 0.2490 0.6375 Pathogenic 17_33772658_G->T 17 33772658 33772658 G T snp 1513.77 0/1 99 171 100 71 0.42 exonic rs8072510 SLFN13 AU stopgain NM_144682 exon3 c.C42A p.Y14X 0.0926518 0.1329 0.100108 0.0953 0.1350 1 T 1.000 P Pathogenic 17_33772796_C->T 17 33772796 33772796 C T snp 282.77 0/1 99 24 14 10 0.42 intronic rs8073820 SLFN13 AU NM_144682 exon4 c.5099+84C>T 0.272963 0.4325 Uncertain 17_33805150_T->C 17 33805150 33805150 T C snp 1489.77 0/1 99 180 115 65 0.36 exonic rs2304968 SLFN12L AU nonsynonymous SNV NM_001195790 exon3 c.A1148G p.Y383C 0.754792 0.6587 0.731932 0.7304 0.6511 0.14 T 0.0 P -1.097 T 0.0 T 0.0 T Pathogenic 17_33807250_T->A 17 33807250 33807250 T A snp 774.77 0/1 99 65 34 31 0.48 intronic rs9905892 SLFN12L AU NM_001195790 exon3 c.5273+36T>A 0.771765 0.6587 0.749124 0.7298 0.6794 Uncertain 17_33814735_-->AA 17 33814735 33814735 - AA indel 3692.73 0/1 99 189 107 82 0.43 intronic rs10626701 SLFN12L AU NM_001195790 exon4 c.12803-9insAA 0.772364 0.6667 0.7294 0.6162 Uncertain 17_33814758_T->C 17 33814758 33814758 T C snp 2329.77 0/1 99 229 124 105 0.46 exonic rs4796089 SLFN12L AU nonsynonymous SNV NM_001195790 exon1 c.A1G p.M1V 0.111621 0.1885 0.0698 0.1919 0.03 T 0.0 P -0.917 T Pathogenic 17_33876083_G->A 17 33876083 33876083 G A snp 2128.77 0/1 99 174 85 89 0.51 exonic rs1001441 SLFN14 AD synonymous SNV NM_001129820 exon4 c.C1914T p.T638T 0.189696 0.2976 0.124179 0.1233 0.3215 Uncertain 17_33876129_A->G 17 33876129 33876129 A G snp 1040.77 0/1 99 88 44 44 0.5 intronic rs1531057 SLFN14 AD NM_001129820 exon1 c.835+37A>G 0.0497204 0.1597 0.013798 0.0333 0.1838 Uncertain 17_33879682_C->T 17 33879682 33879682 C T snp 86.77 0/1 28 5 2 3 0.6 intronic rs9913515 SLFN14 AD NM_001129820 exon2 c.4491-66C>T Uncertain 17_33880003_C->G 17 33880003 33880003 C G snp 1616.77 0/1 99 170 97 73 0.43 exonic rs28498569 SLFN14 AD synonymous SNV NM_001129820 exon3 c.G1650C p.V550V 0.232428 0.2976 0.153526 0.1357 0.3226 Uncertain 17_33881453_T->G 17 33881453 33881453 T G snp 178.9 1/1 15 5 0 5 1.0 intronic rs321611 SLFN14 AD NM_001129820 exon3 c.6337-141T>G 0.786342 0.8383 Uncertain 17_33881631_T->C 17 33881631 33881631 T C snp 5602.77 1/1 99 242 0 242 1.0 exonic rs321612 SLFN14 AD nonsynonymous SNV NM_001129820 exon2 c.A1153G p.K385E 0.627196 0.6885 0.630092 0.5782 0.7210 1 T 0.0 P -0.937 T 0.0 T 0.0 T Pathogenic 17_33881718_G->A 17 33881718 33881718 G A snp 4177.77 1/1 99 154 1 153 0.99 exonic rs321613 SLFN14 AD nonsynonymous SNV NM_001129820 exon2 c.C1066T p.P356S 0.627396 0.6895 0.629654 0.5795 0.7175 1 T 0.0 P -0.933 T 0.0 T 0.0 T Pathogenic 17_33881734_A->G 17 33881734 33881734 A G snp 1689.77 0/1 99 120 51 69 0.57 intronic rs321614 SLFN14 AD NM_001129820 exon3 c.6466+11A>G 0.394569 0.3919 0.477004 0.4450 0.3937 Uncertain 17_33881770_AAA->- 17 33881770 33881772 AAA - indel 464.74 1/1 27 37 1 36 0.97 intronic rs10578465 SLFN14 AD NM_001129820 exon3 c.6466+47_6466+49delAAA 0.4432 0.5094 Uncertain 17_33884804_T->C 17 33884804 33884804 T C snp 2839.77 0/1 99 241 130 111 0.46 exonic rs10512472 SLFN14 AD nonsynonymous SNV NM_001129820 exon1 c.A278G p.Q93R 0.235224 0.3056 0.183311 0.2048 0.3280 0.03 T 0.001 P -0.855 T 0.799 T 0.188 P Pathogenic 17_33902635_G->T 17 33902635 33902635 G T snp 274.77 0/1 99 26 14 12 0.46 UTR3 rs1037590 PEX12 AU,AR 0.242212 0.3026 Uncertain 17_33921160_C->T 17 33921160 33921160 C T snp 765.77 1/1 57 24 0 24 1.0 intronic rs225305 AP2B1 AU NM_001282 exon2 c.37+74C>T 0.864417 0.9653 0.861805 Uncertain 17_33933006_A->C 17 33933006 33933006 A C snp 679.77 0/1 99 47 23 24 0.51 intronic rs225284 AP2B1 AU NM_001282 exon4 c.11810+147A>C 0.447684 0.5298 Uncertain 17_33963612_T->- 17 33963612 33963612 T - indel 1437.73 1/1 99 38 0 38 1.0 intronic rs11345348 AP2B1 AU NM_001282 exon10 c.42426+137delT 0.878994 0.9653 Uncertain 17_33966629_C->T 17 33966629 33966629 C T snp 833.77 0/1 99 49 20 29 0.59 exonic rs117652210 AP2B1 AU synonymous SNV NM_001030006 exon11 c.C1287T p.I429I 0.0135783 0.0655 0.0052 0.0578 Uncertain 17_33968871_A->T 17 33968871 33968871 A T snp 2365.77 1/1 99 71 0 71 1.0 intronic rs225270 AP2B1 AU NM_001282 exon12 c.47846-24A>T 0.879193 0.9653 0.873059 0.8333 0.9660 Uncertain 17_33998802_G->C 17 33998802 33998802 G C snp 266.77 0/1 99 31 21 10 0.32 exonic rs1049379 AP2B1 AU synonymous SNV NM_001282 exon15 c.G2019C p.V673V 0.471046 0.5317 0.493541 0.4880 0.5079 Uncertain 17_34067892_G->A 17 34067892 34067892 G A snp 177.77 0/1 99 15 8 7 0.47 intronic RASL10B AU NM_033315 exon4 c.5850-161G>A 0.305112 0.2629 Uncertain 17_34072074_C->T 17 34072074 34072074 C T snp 1613.77 0/1 99 146 81 65 0.45 exonic GAS2L2 AU synonymous SNV NM_139285 exon6 c.G2442A p.R814R 0.00359425 0.0179 0.0007 0.0090 Uncertain 17_34072555_G->A 17 34072555 34072555 G A snp 3384.77 0/1 99 249 126 123 0.49 exonic GAS2L2 AU nonsynonymous SNV NM_139285 exon6 c.C1961T p.A654V 0.201877 0.127 0.271413 0.2109 0.1449 1 T 0.000 P -0.924 T 0.0 T 0.0 T Pathogenic 17_34073301_C->T 17 34073301 34073301 C T snp 1767.77 0/1 99 132 55 77 0.58 exonic GAS2L2 AU synonymous SNV NM_139285 exon6 c.G1215A p.E405E 0.0511182 0.1726 0.016531 0.0351 0.1826 Uncertain 17_34076098_G->- 17 34076098 34076098 G - indel 3565.73 0/1 99 250 131 119 0.48 intronic GAS2L2 AU NM_139285 exon4 c.4256-30delG 0.0301518 0.1161 0.017891 0.0319 0.1677 Uncertain 17_34077412_T->G 17 34077412 34077412 T G snp 898.77 0/1 99 94 59 35 0.37 intronic GAS2L2 AU NM_139285 exon5 c.5465+75T>G 0.0307508 0.1181 Uncertain 17_34077428_A->C 17 34077428 34077428 A C snp 752.77 0/1 99 71 45 26 0.37 intronic GAS2L2 AU NM_139285 exon5 c.5465+91A>C 0.18131 0.2778 Uncertain 17_34088036_-->T 17 34088036 34088036 - T indel 399.73 0/1 99 36 23 13 0.36 intronic rs79845981 C17orf50 AU NM_145272 exon1 c.13+63insT 0.0265575 0.0972 0.017585 Uncertain 17_34100350_-->C 17 34100350 34100350 - C indel 7399.73 1/1 99 166 0 166 1.0 exonic rs58543174 MMP28 AU unknown 1 1 0.9998 0.9999 Uncertain 17_34171590_A->G 17 34171590 34171590 A G snp 696.77 0/1 99 56 27 29 0.52 exonic TAF15 AU synonymous SNV NM_139215 exon15 c.A1287G p.G429G 0.204073 0.1548 0.136937 0.1423 0.1314 Uncertain 17_34195813_G->A 17 34195813 34195813 G A snp 779.77 0/1 99 73 39 34 0.47 UTR5 rs139675602 HEATR9 AU 0.00319489 0.0119 Uncertain 17_34261711_GA->- 17 34261711 34261712 GA - indel 614.73 0/1 99 29 15 14 0.48 UTR3 rs140946550 LYZL6 AU 0.00878594 0.0437 Uncertain 17_34264862_T->C 17 34264862 34264862 T C snp 1735.77 0/1 99 157 77 80 0.51 exonic rs1052266 LYZL6 AU synonymous SNV NM_020426 exon2 c.A198G p.A66A 0.086861 0.1637 0.063970 0.1004 0.1345 Uncertain 17_34324617_C->T 17 34324617 34324617 C T snp 41.77 0/1 70 4 2 2 0.5 ncRNA_intronic rs41389847 CCL15-CCL14 AU 0.156749 0.37 Uncertain 17_34325532_T->C 17 34325532 34325532 T C snp 703.77 0/1 99 53 28 25 0.47 ncRNA_intronic rs2075746 CCL15-CCL14 AU 0.771965 0.7599 Uncertain 17_34325770_C->T 17 34325770 34325770 C T snp 68.77 0/1 97 9 6 3 0.33 ncRNA_intronic rs864104 CCL15-CCL14 AU 0.500399 0.4871 Uncertain 17_34340161_T->A 17 34340161 34340161 T A snp 4033.77 1/1 99 141 0 141 1.0 UTR3 rs1734953 CCL23 AU 0.96905 1 Uncertain 17_34340284_C->T 17 34340284 34340284 C T snp 1911.77 0/1 99 174 98 76 0.44 exonic rs1003645 CCL23 AU nonsynonymous SNV NM_005064 exon4 c.G367A p.V123M 0.520767 0.5744 0.605951 0.7125 0.5913 1 T 0.0 P -1.006 T 0.007 T 0.015 T Pathogenic 17_34341082_C->G 17 34341082 34341082 C G snp 43.77 0/1 72 12 9 3 0.25 intronic rs1719204 CCL23 AU NM_005064 exon2 c.713+133C>G 0.523163 0.5804 Uncertain 17_34398495_C->T 17 34398495 34398495 C T snp 887.77 0/1 99 54 20 34 0.63 UTR3 rs14304 CCL18 AU 0.204273 0.3294 Uncertain 17_34416486_C->A 17 34416486 34416486 C A snp 60.77 0/1 89 8 5 3 0.38 intronic rs184293561 CCL3 AU NM_002983 exon2 c.511-42C>A 0.00219649 0.0079 0.000231 0.0012 0.0096 Uncertain 17_34416499_A->C 17 34416499 34416499 A C snp 86.77 0/1 99 17 13 4 0.24 intronic rs118134981 CCL3 AU NM_002983 exon2 c.511-29A>C 0.00199681 0.0089 0.000308 0.0013 0.0102 Uncertain 17_34416665_A->G 17 34416665 34416665 A G snp 2927.77 1/1 99 109 0 109 1.0 intronic rs1719133 CCL3 AU NM_002983 exon2 c.626+22A>G 0.979832 1 0.980701 0.9937 1 Uncertain 17_34431287_G->T 17 34431287 34431287 G T snp 4562.77 1/1 99 161 0 161 1.0 UTR5 rs1049750 CCL4 AU 0.955671 0.994 0.9876 0.9964 Uncertain 17_34431961_T->C 17 34431961 34431961 T C snp 622.77 1/1 45 30 8 22 0.73 exonic rs1719146 CCL4 AU synonymous SNV NM_002984 exon2 c.T117C p.T39T 0.91274 0.7768 0.9655 0.7400 Uncertain 17_34432125_A->G 17 34432125 34432125 A G snp 1022.77 1/1 75 33 0 33 1.0 intronic rs1719147 CCL4 AU NM_002984 exon2 c.737+90A>G 0.786741 0.9345 Uncertain 17_34432237_G->A 17 34432237 34432237 G A snp 50.74 1/1 6 2 0 2 1.0 intronic rs72833526 CCL4 AU NM_002984 exon2 c.737+202G>A 0.332468 0.504 Uncertain 17_34539552_G->A 17 34539552 34539552 G A snp 181.77 0/1 99 38 12 26 0.68 UTR3 CCL4L2 AU 0.0515 0.125 Uncertain 17_34611381_A->G 17 34611381 34611381 A G snp 80.28 1/1 9 3 0 3 1.0 intergenic TBC1D3H AU Uncertain 17_34640784_C->T 17 34640784 34640784 C T snp 345.77 1/1 36 35 22 13 0.37 exonic CCL4L1 AU synonymous SNV NM_001291468 exon2 c.C117T p.T39T Uncertain 17_34641085_G->A 17 34641085 34641085 G A snp 221.77 0/1 99 50 23 27 0.54 intronic rs201212247 CCL4L1 AU NM_207007 exon2 c.749+227G>A Uncertain 17_34641118_G->A 17 34641118 34641118 G A snp 123.77 0/1 85 40 11 29 0.72 intronic rs139880913 CCL4L1 AU NM_207007 exon2 c.749+260G>A 0.334265 0.6022 Uncertain 17_34641570_T->C 17 34641570 34641570 T C snp 1076.77 0/1 99 210 136 74 0.35 UTR3 rs201331353 CCL4L1 AU 0.100639 0.2808 0.021843 0.0678 0.3256 Uncertain 17_34842521_A->G 17 34842521 34842521 A G snp 3624.77 0/1 99 250 122 128 0.51 UTR5 rs4796224 ZNHIT3 AU 0.508586 0.4534 0.485391 0.4999 0.4842 Uncertain 17_34848796_-->GAAAG 17 34848796 34848796 - GAAAG indel 3142.73 0/1 99 112 65 47 0.42 intronic rs3830269 ZNHIT3 AU NM_001281433 exon3 c.6200+53insGAAAG 0.251797 0.3244 0.184644 0.1705 0.3383 Uncertain 17_34848874_T->C 17 34848874 34848874 T C snp 107.77 0/1 99 29 23 6 0.21 intronic rs2306589 ZNHIT3 AU NM_001281433 exon3 c.6200+131T>C 0.508586 0.6706 Uncertain 17_34849525_C->A 17 34849525 34849525 C A snp 54.74 1/1 6 2 0 2 1.0 intronic rs4795138 ZNHIT3 AU NM_001281432 exon4 c.7226-244C>A 0.982428 1 Uncertain 17_34849697_C->G 17 34849697 34849697 C G snp 1612.77 0/1 99 136 70 66 0.49 intronic rs2277662 ZNHIT3 AU NM_001281432 exon4 c.7226-72C>G 0.2502 0.3244 Uncertain 17_34855069_C->G 17 34855069 34855069 C G snp 972.77 0/1 99 87 45 42 0.48 UTR3 rs2005488 ZNHIT3 AU 0.250998 0.3244 Uncertain 17_34861303_G->A 17 34861303 34861303 G A snp 228.77 0/1 99 18 9 9 0.5 intronic rs2242308 MYO19 AU NM_001163735 exon8 c.9149+60G>A 0.176717 0.2986 Uncertain 17_34862220_T->C 17 34862220 34862220 T C snp 1306.77 0/1 99 106 50 56 0.53 intronic rs1109442 MYO19 AU NM_001163735 exon9 c.10200-74T>C 0.461861 0.3294 Uncertain 17_34862257_TT->- 17 34862257 34862258 TT - indel 3017.73 0/1 99 149 80 69 0.46 intronic rs3050532 MYO19 AU NM_001163735 exon9 c.10200-37_10200-36delTT 0.250599 0.3244 0.185896 0.1640 0.3346 Uncertain 17_34862577_T->C 17 34862577 34862577 T C snp 74.77 0/1 99 6 3 3 0.5 intronic rs2242309 MYO19 AU NM_001163735 exon9 c.10353+130T>C 0.250399 0.3244 Uncertain 17_34863624_G->A 17 34863624 34863624 G A snp 468.77 0/1 99 36 14 22 0.61 intronic rs56037528 MYO19 AU NM_001163735 exon12 c.11547-17G>A 0.0740815 0.1587 0.042707 0.0868 0.2156 Uncertain 17_34866546_C->T 17 34866546 34866546 C T snp 826.77 0/1 99 51 19 32 0.63 intronic rs2306593 MYO19 AU NM_001163735 exon14 c.14490-38C>T 0.412939 0.5595 0.423715 0.5006 0.5874 Uncertain 17_34866915_A->G 17 34866915 34866915 A G snp 86.77 0/1 30 4 1 3 0.75 intronic rs8070260 MYO19 AU NM_001163735 exon14 c.14662+159A>G 0.511781 0.6716 Uncertain 17_34867415_-->GT 17 34867415 34867415 - GT indel 439.73 0/1 99 38 21 17 0.45 intronic rs34476742 MYO19 AU NM_001163735 exon15 c.15200+121insGT 0.508187 0.6677 Uncertain 17_34869150_C->A 17 34869150 34869150 C A snp 830.77 1/1 60 29 0 29 1.0 UTR3 rs6607296 MYO19 AU 0.968051 1 Uncertain 17_34869155_G->A 17 34869155 34869155 G A snp 298.77 0/1 99 31 17 14 0.45 UTR3 rs8882 MYO19 AU 0.450679 0.4206 Uncertain 17_34871721_T->C 17 34871721 34871721 T C snp 837.77 0/1 99 75 37 38 0.51 exonic rs2306595 MYO19 AU nonsynonymous SNV NM_001033580 exon8 c.A527G p.N176S 0.0706869 0.1597 0.037677 0.0620 0.1750 0.04 T 1 D -0.821 T 1.0 D 1.0 D Pathogenic 17_34893326_A->G 17 34893326 34893326 A G snp 3197.84 0/1 99 250 122 128 0.51 exonic rs72818370 PIGW AR nonsynonymous SNV NM_178517 exon2 c.A376G p.N126D 0.0752796 0.1617 0.038674 0.0639 0.1779 1 N -1.077 T 0.023 T 0.012 T Pathogenic 17_34912744_G->C 17 34912744 34912744 G C snp 46.77 0/1 33 3 1 2 0.67 intronic rs2285642 GGNBP2 AU NM_024835 exon4 c.11349-178G>C 0.592652 0.6706 Uncertain 17_34938050_C->A 17 34938050 34938050 C A snp 48.74 1/1 6 3 0 3 1.0 intronic GGNBP2 AU NM_024835 exon9 c.36395+82C>A 0.0714856 0.1607 Uncertain 17_34958598_G->C 17 34958598 34958598 G C snp 829.77 0/1 99 75 43 32 0.43 exonic MRM1 AU nonsynonymous SNV NM_024864 exon1 c.G359C p.C120S 0.0708866 0.1627 0.032885 0.0613 0.1817 0 D 1 D -1.222 T 0.971 D 0.898 D Pathogenic 17_35299463_C->T 17 35299463 35299463 C T snp 258.77 0/1 99 33 20 13 0.39 intronic rs79002248 LHX1 AU NM_005568 exon4 c.4002-33C>T 0.123203 0.122 0.073963 0.1023 0.1816 Uncertain 17_35299688_A->G 17 35299688 35299688 A G snp 661.77 0/1 99 62 33 29 0.47 intronic rs8075125 LHX1 AU NM_005568 exon4 c.4168+26A>G 0.314297 0.1409 0.242186 0.2135 0.1667 Uncertain 17_35306312_G->C 17 35306312 35306312 G C snp 709.77 0/1 99 69 39 30 0.43 UTR5 rs2306658 AATF AU 0.271965 0.1815 Uncertain 17_35307774_T->C 17 35307774 35307774 T C snp 938.77 0/1 99 95 56 39 0.41 intronic rs9905926 AATF AU NM_012138 exon2 c.1280+69T>C 0.280152 0.12 Uncertain 17_35378121_G->A 17 35378121 35378121 G A snp 143.77 0/1 99 14 9 5 0.36 intronic rs2301685 AATF AU NM_012138 exon10 c.71807-111G>A 0.128594 0.131 Uncertain 17_35378217_C->A 17 35378217 35378217 C A snp 817.77 0/1 99 83 47 36 0.43 intronic rs2301686 AATF AU NM_012138 exon10 c.71807-15C>A 0.126997 0.131 0.158773 0.1499 0.1455 Uncertain 17_35470230_A->T 17 35470230 35470230 A T snp 3668.77 1/1 99 131 0 131 1.0 intronic rs3815059 ACACA AR NM_198836 exon6 c.25950+30A>T 0.397364 0.3075 0.326388 0.2712 0.3082 Uncertain 17_35478362_T->C 17 35478362 35478362 T C snp 2972.77 1/1 99 114 0 114 1.0 exonic rs1470452 ACACA AR synonymous SNV NM_198839 exon54 c.A6078G p.T2026T 1 1 0.998924 0.9995 0.9997 Uncertain 17_35486486_C->T 17 35486486 35486486 C T snp 516.77 1/1 39 17 0 17 1.0 intronic rs9789070 ACACA AR NM_198836 exon10 c.42161+75C>T 0.739018 0.5437 Uncertain 17_35486495_A->G 17 35486495 35486495 A G snp 475.77 1/1 36 15 0 15 1.0 intronic rs17848779 ACACA AR NM_198836 exon10 c.42161+84A>G 0.261981 0.252 Uncertain 17_35549275_T->C 17 35549275 35549275 T C snp 1347.77 0/1 99 101 46 55 0.54 intronic rs2305099 ACACA AR NM_198836 exon20 c.104996+29T>C 0.741014 0.748 0.802476 0.7809 0.7595 Uncertain 17_35550158_C->T 17 35550158 35550158 C T snp 200.77 0/1 99 22 10 12 0.55 intronic rs12603097 ACACA AR NM_198836 exon21 c.106064-156C>T 0.587061 0.6915 Uncertain 17_35550179_C->T 17 35550179 35550179 C T snp 200.77 0/1 99 23 11 12 0.52 intronic rs12603098 ACACA AR NM_198836 exon21 c.106064-135C>T 0.646366 0.6915 Uncertain 17_35550416_A->G 17 35550416 35550416 A G snp 395.77 0/1 99 40 19 21 0.53 intronic rs2305098 ACACA AR NM_198836 exon21 c.106106+60A>G 0.210863 0.4534 0.093819 Uncertain 17_35550448_C->A 17 35550448 35550448 C A snp 381.77 0/1 99 32 13 19 0.59 intronic rs2305097 ACACA AR NM_198836 exon21 c.106106+92C>A 0.684105 0.748 Uncertain 17_35562546_C->T 17 35562546 35562546 C T snp 117.77 0/1 99 7 3 4 0.57 intronic rs2278679 ACACA AR NM_198836 exon24 c.118428-132C>T 0.589257 0.6905 Uncertain 17_35581888_TA->- 17 35581888 35581889 TA - indel 255.77 1/1 21 7 0 7 1.0 intronic ACACA AR NM_198836 exon30 c.137662-24_137662-23delTA 0.462061 0.4474 0.3405 0.3073 Uncertain 17_35583434_T->A 17 35583434 35583434 T A snp 425.77 0/1 99 21 6 15 0.71 intronic rs17848762 ACACA AR NM_198836 exon31 c.139123+61T>A 0.00139776 0.006 Uncertain 17_35608782_CT->- 17 35608782 35608783 CT - indel 880.73 0/1 99 45 23 22 0.49 intronic rs36093723 ACACA AR NM_198836 exon41 c.164680-148_164680-147delCT 0.56849 0.6925 Uncertain 17_35608889_G->A 17 35608889 35608889 G A snp 1368.77 0/1 99 153 86 67 0.44 intronic rs1519091 ACACA AR NM_198836 exon41 c.164680-41G>A 0.66893 0.751 0.722128 0.7515 0.7579 Uncertain 17_35609746_G->A 17 35609746 35609746 G A snp 399.77 0/1 99 31 18 13 0.42 intronic rs2252757 ACACA AR NM_198836 exon42 c.165561-65G>A 0.727636 0.751 Uncertain 17_35609866_C->T 17 35609866 35609866 C T snp 2888.77 0/1 99 249 130 119 0.48 exonic rs2229416 ACACA AR synonymous SNV NM_198839 exon19 c.G1812A p.Q604Q 0.219848 0.4534 0.097263 0.1769 0.4573 Uncertain 17_35615194_G->A 17 35615194 35615194 G A snp 2042.77 0/1 99 216 121 95 0.44 exonic rs145228147 ACACA AR synonymous SNV NM_198839 exon17 c.C1491T p.H497H 0.00419329 0.0208 0.000077 0.0020 0.0280 Uncertain 17_35630997_T->C 17 35630997 35630997 T C snp 1326.77 0/1 99 111 57 54 0.49 intronic rs2542659 ACACA AR NM_198836 exon48 c.186833-86T>C 0.209465 0.4444 Uncertain 17_35632979_C->A 17 35632979 35632979 C A snp 975.77 0/1 99 120 74 46 0.38 intronic rs2542660 ACACA AR NM_198836 exon49 c.188692+37C>A 0.684305 0.753 0.738275 0.7564 0.7590 Uncertain 17_35634023_A->G 17 35634023 35634023 A G snp 2663.77 0/1 99 242 125 117 0.48 intronic rs2302803 ACACA AR NM_198836 exon50 c.189757+16A>G 0.141573 0.3611 0.059203 0.1133 0.3746 Uncertain 17_35696804_G->A 17 35696804 35696804 G A snp 218.77 0/1 99 22 13 9 0.41 UTR5 rs58654829 ACACA AR 0.585463 0.6915 0.652237 0.7173 0.7016 Uncertain 17_35696821_AAAG->- 17 35696821 35696824 AAAG - indel 620.73 0/1 99 20 10 10 0.5 intronic rs147333574 ACACA AR NM_198836 exon55 c.252560+11_252560+14delAAAG 0.585463 0.6915 0.646811 0.7116 0.6924 Uncertain 17_35800919_A->G 17 35800919 35800919 A G snp 54.74 1/1 6 2 0 2 1.0 intronic rs853229 TADA2A AU NM_001291918 exon6 c.29311+156A>G 0.801717 0.9683 Uncertain 17_35818740_TGTGTG->- 17 35818740 35818745 TGTGTG - indel 1654.73 1/1 48 39 1 38 0.97 intronic rs72377203 TADA2A AU NM_001291918 exon9 c.47237+51_47237+56delTGTGTG 0.2371 0.3553 Uncertain 17_35821931_G->C 17 35821931 35821931 G C snp 180.9 1/1 15 5 0 5 1.0 intronic rs853192 TADA2A AU NM_001291918 exon10 c.50729-250G>C 0.801318 0.9683 Uncertain 17_35898342_G->T 17 35898342 35898342 G T snp 74.77 0/1 99 8 5 3 0.38 intronic rs2074409 SYNRG AU NM_001163544 exon5 c.19383-83G>T 0.395966 0.5665 Uncertain 17_35899141_T->A 17 35899141 35899141 T A snp 955.77 0/1 99 68 29 39 0.57 intronic rs1034686 SYNRG AU NM_001163544 exon6 c.20251-152T>A 0.766174 0.9514 Uncertain 17_35936594_T->C 17 35936594 35936594 T C snp 1015.77 1/1 75 31 0 31 1.0 intronic rs11654048 SYNRG AU NM_001163544 exon15 c.57474+78T>C 0.197883 0.0923 Uncertain 17_35944539_C->A 17 35944539 35944539 C A snp 48.74 1/1 6 2 0 2 1.0 intronic rs4239215 SYNRG AU NM_001163544 exon16 c.65713-216C>A 0.995208 1 Uncertain 17_35956263_T->C 17 35956263 35956263 T C snp 3502.77 1/1 99 130 0 130 1.0 intronic rs4795207 SYNRG AU NM_001163544 exon19 c.77227-6T>C 0.991813 1 0.989851 0.9975 1 Uncertain 17_35984410_T->C 17 35984410 35984410 T C snp 1501.77 1/1 99 61 0 61 1.0 exonic rs7216445 DDX52 AU nonsynonymous SNV NM_007010 exon9 c.A1207G p.M403V 0.574481 0.5605 0.697294 0.7145 0.5662 0.18 T 0.999 P -1.097 T 0.004 T 0.009 T Pathogenic 17_35988672_C->T 17 35988672 35988672 C T snp 2712.77 1/1 99 105 0 105 1.0 exonic rs7224513 DDX52 AU synonymous SNV NM_007010 exon6 c.G792A p.R264R 0.567891 0.5526 0.687836 0.7049 0.5633 Uncertain 17_35995638_T->A 17 35995638 35995638 T A snp 1879.77 1/1 99 71 0 71 1.0 intronic rs4622555 DDX52 AU NM_007010 exon13 c.19108+2190T>A 0.508187 0.5605 0.6013 0.6212 Uncertain 17_36003275_T->A 17 36003275 36003275 T A snp 595.77 1/1 45 19 0 19 1.0 intronic rs3813911 DDX52 AU NM_007010 exon15 c.29022-87T>A 0.751198 0.7024 Uncertain 17_36003359_A->G 17 36003359 36003359 A G snp 4832.77 1/1 99 168 0 168 1.0 splicing rs3813910 DDX52 AU NM_007010 exon15 c.29022-3A>G 0.585264 0.5615 0.707289 0.7111 0.5692 Pathogenic 17_36003613_-->T 17 36003613 36003613 - T indel 81.8 1/1 18 16 0 16 1.0 upstream DDX52 AU Uncertain 17_36047275_C->T 17 36047275 36047275 C T snp 1322.77 0/1 99 110 53 57 0.52 UTR3 rs1800929 HNF1B AU,AD 0.780351 0.8363 0.8524 0.8351 Uncertain 17_36047417_A->G 17 36047417 36047417 A G snp 1617.77 0/1 99 160 89 71 0.44 intronic rs3110641 HNF1B AU,AD NM_000458 exon1 c.21+22A>G 0.654952 0.7659 0.671075 0.7331 0.7508 CLINSIG=non-pathogenic;CLNDBN=Familial_hypoplastic\x2c_glomerulocystic_kidney;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000030524.1;CLNDSDB=MedGen:OMIM:SNOMED_CT;CLNDSDBID=C0431693:137920:253864004 Uncertain 17_36058980_C->T 17 36058980 36058980 C T snp 116.77 0/1 99 11 5 6 0.55 intronic rs2269843 HNF1B AU,AD NM_000458 exon2 c.11707-101C>T 0.717851 0.5992 Uncertain 17_36059246_A->C 17 36059246 36059246 A C snp 698.77 0/1 99 66 36 30 0.45 intronic rs2269842 HNF1B AU,AD NM_000458 exon2 c.11826+46A>C 0.344848 0.2639 0.347993 0.2920 0.2618 Uncertain 17_36059377_A->G 17 36059377 36059377 A G snp 287.77 0/1 99 18 8 10 0.56 intronic rs2269841 HNF1B AU,AD NM_000458 exon2 c.11826+177A>G 0.344848 0.2649 Uncertain 17_36061297_C->T 17 36061297 36061297 C T snp 41.77 0/1 70 5 3 2 0.4 intronic rs2074429 HNF1B AU,AD NM_000458 exon3 c.13808+115C>T 0.804313 0.6161 Uncertain 17_36104904_A->G 17 36104904 36104904 A G snp 90.77 0/1 99 47 31 16 0.34 UTR5 HNF1B AU,AD Uncertain 17_36104910_T->G 17 36104910 36104910 T G snp 71.77 0/1 99 40 27 13 0.33 UTR5 HNF1B AU,AD Uncertain 17_36104914_T->G 17 36104914 36104914 T G snp 75.77 0/1 99 37 25 12 0.32 UTR5 rs769034021 HNF1B AU,AD 1.161e-05 0 Uncertain 17_36352408_-->T 17 36352408 36352408 - T indel 3274.73 0/1 99 247 80 167 0.68 ncRNA_intronic rs11407739 LOC440434 AU 0.508586 0.5149 0.5545 0.5329 Uncertain 17_36352537_A->G 17 36352537 36352537 A G snp 2326.77 0/1 99 192 99 93 0.48 ncRNA_intronic LOC440434 AU 0.5658 0.5160 Uncertain 17_36352572_C->T 17 36352572 36352572 C T snp 704.77 0/1 99 115 75 40 0.35 ncRNA_intronic LOC440434 AU 0.3551 0.3382 Uncertain 17_36353560_C->T 17 36353560 36353560 C T snp 893.77 1/1 81 48 0 48 1.0 ncRNA_intronic LOC440434 AU 0.4879 0.6036 Uncertain 17_36357295_A->G 17 36357295 36357295 A G snp 353.77 0/1 99 117 98 19 0.16 ncRNA_intronic LOC440434 AU 0.00279553 0.001 0.4102 0.3533 Uncertain 17_36357835_G->A 17 36357835 36357835 G A snp 3295.77 0/1 99 195 83 112 0.57 ncRNA_intronic LOC440434 AU 0.372804 0.3403 Uncertain 17_36358680_A->G 17 36358680 36358680 A G snp 539.77 1/1 42 14 0 14 1.0 ncRNA_intronic LOC440434 AU 0.808706 0.8343 Uncertain 17_36358847_T->A 17 36358847 36358847 T A snp 9143.77 1/1 99 250 1 249 1.0 ncRNA_exonic LOC440434 AU 0.829473 0.8502 0.7460 0.8040 1 T -0.988 T Uncertain 17_36361992_C->T 17 36361992 36361992 C T snp 1007.77 0/1 99 160 111 49 0.31 ncRNA_intronic LOC440434 AU Uncertain 17_36365172_C->T 17 36365172 36365172 C T snp 250.77 0/1 99 226 199 27 0.12 ncRNA_exonic LOC440434 AU 0.1420 0.1992 -0.933 T Uncertain 17_36365191_A->T 17 36365191 36365191 A T snp 2441.77 0/1 99 207 107 100 0.48 ncRNA_intronic LOC440434 AU 0.1210 0.2818 Uncertain 17_36374964_A->- 17 36374964 36374964 A - indel 79.73 0/1 99 33 24 9 0.27 ncRNA_intronic LOC440434 AU 0.469649 0.4147 Uncertain 17_36375227_C->T 17 36375227 36375227 C T snp 2927.77 0/1 99 197 86 111 0.56 ncRNA_intronic LOC440434 AU 0.212061 0.2867 0.1629 0.3102 Uncertain 17_36384823_-->AGACA 17 36384823 36384823 - AGACA indel 3525.73 0/1 99 113 56 57 0.5 ncRNA_intronic LOC440434 AU 0.217053 0.2619 Uncertain 17_36455198_A->G 17 36455198 36455198 A G snp 74.77 0/1 30 7 3 4 0.57 intronic MRPL45 AU NM_001278279 exon3 c.2167-118A>G Uncertain 17_36484102_G->T 17 36484102 36484102 G T snp 1587.77 0/1 99 107 49 58 0.54 exonic GPR179 AR nonsynonymous SNV NM_001004334 exon11 c.C5350A p.P1784T 0.00219649 0.0079 0.0003 0.0030 0.58 T 1 N -1.038 T 0.483 P 0.084 P Pathogenic 17_36492115_C->T 17 36492115 36492115 C T snp 769.77 0/1 99 58 30 28 0.48 intronic GPR179 AR NM_001004334 exon7 c.9680+88C>T 0.00259585 0.0119 Uncertain 17_36614524_G->A 17 36614524 36614524 G A snp 2532.77 0/1 99 182 77 105 0.58 intronic ARHGAP23 AU NM_001199417 exon2 c.29778+17G>A 0.301318 0.4097 0.3202 0.4880 Uncertain 17_36614563_C->T 17 36614563 36614563 C T snp 1620.77 0/1 99 121 54 67 0.55 intronic ARHGAP23 AU NM_001199417 exon2 c.29778+56C>T 0.313299 0.4087 Uncertain 17_36617210_A->G 17 36617210 36617210 A G snp 1073.77 0/1 99 112 68 44 0.39 intronic ARHGAP23 AU NM_001199417 exon3 c.32447+34A>G 0.627396 0.4365 0.5104 0.5099 Uncertain 17_36638179_G->A 17 36638179 36638179 G A snp 37.77 0/1 66 8 4 4 0.5 intronic ARHGAP23 AU NM_001199417 exon15 c.53533-83G>A 0.265775 0.3978 Uncertain 17_36638255_C->T 17 36638255 36638255 C T snp 251.77 0/1 99 25 14 11 0.44 intronic ARHGAP23 AU NM_001199417 exon15 c.53533-7C>T 0.364816 0.4097 0.374507 0.4060 0.3820 Uncertain 17_36638388_A->G 17 36638388 36638388 A G snp 194.77 0/1 99 16 8 8 0.5 splicing ARHGAP23 AU NM_001199417 exon15 c.53655+4A>G 0.270966 0.3978 0.3046 0.4247 Pathogenic 17_36638695_G->T 17 36638695 36638695 G T snp 517.77 0/1 99 37 16 21 0.57 intronic ARHGAP23 AU NM_001199417 exon16 c.54034-68G>T 0.265775 0.3978 Uncertain 17_36642474_T->- 17 36642474 36642474 T - indel 273.92 1/1 5 22 2 20 0.91 intronic ARHGAP23 AU NM_001199417 exon17 c.57652+93delT 0.802915 0.8671 Uncertain 17_36646291_A->G 17 36646291 36646291 A G snp 2102.77 1/1 99 81 0 81 1.0 intronic ARHGAP23 AU NM_001199417 exon18 c.61613-51A>G 0.690495 0.9226 0.652431 Uncertain 17_36646386_A->G 17 36646386 36646386 A G snp 2116.77 1/1 99 74 0 74 1.0 exonic ARHGAP23 AU synonymous SNV NM_001199417 exon18 c.A3030G p.A1010A 0.990815 1 0.979851 0.9837 1 Uncertain 17_36666551_T->C 17 36666551 36666551 T C snp 2719.77 1/1 99 106 0 106 1.0 exonic ARHGAP23 AU synonymous SNV NM_001199417 exon24 c.T3819C p.D1273D 0.83746 0.9365 0.8083 0.9028 Uncertain 17_36718610_T->A 17 36718610 36718610 T A snp 2647.77 1/1 99 99 1 98 0.99 intronic rs6503709 SRCIN1 AU NM_025248 exon13 c.29033+46T>A 0.988219 1 0.977243 0.9710 1 Uncertain 17_36734700_T->C 17 36734700 36734700 T C snp 1592.77 1/1 99 54 1 53 0.98 intronic rs7503695 SRCIN1 AU NM_025248 exon18 c.45211-42T>C 0.827082 0.8943 0.9725 Uncertain 17_36734707_AGCCGG->- 17 36734707 36734712 AGCCGG - indel 4760.73 1/1 99 59 0 59 1.0 intronic rs144253512 SRCIN1 AU NM_025248 exon18 c.45211-35_45211-30delAGCCGG 0.909545 0.9722 0.822127 0.8777 0.9708 Uncertain 17_36760878_C->T 17 36760878 36760878 C T snp 490.77 1/1 36 20 0 20 1.0 intronic rs62077547 SRCIN1 AU NM_025248 exon19 c.72405-1058C>T 0.181909 0.5496 0.1505 0.5412 Uncertain 17_36830562_G->C 17 36830562 36830562 G C snp 1481.77 1/1 99 54 0 54 1.0 exonic rs79676758 C17orf96 AU nonsynonymous SNV NM_001130677 exon1 c.C187G p.L63V 0.192692 0.2004 0.1977 0.2431 0 D 0.040 P -1.061 T 0.935 T 0.518 D Pathogenic 17_36861983_T->C 17 36861983 36861983 T C snp 1248.77 1/1 87 53 0 53 1.0 exonic rs17855918 MLLT6 AU nonsynonymous SNV NM_005937 exon1 c.T98C p.V33A 1 1 1 1 1 T 0.000 P -0.947 T 0.0 T 0.002 T Pathogenic 17_36887066_C->T 17 36887066 36887066 C T snp 2828.77 0/1 99 249 127 122 0.49 intronic CISD3 AU NM_001136498 exon2 c.437+18C>T Uncertain 17_36889466_-->CCTGC 17 36889466 36889466 - CCTGC indel 2182.73 0/1 99 80 46 34 0.42 intronic rs25605 CISD3 AU NM_001136498 exon4 c.2917-62insCCTGC 0.505791 0.3532 Uncertain 17_36894839_G->A 17 36894839 36894839 G A snp 892.77 0/1 99 81 48 33 0.41 exonic rs1138349 PCGF2 AU synonymous SNV NM_007144 exon8 c.C435T p.D145D 0.433706 0.2758 0.476703 0.4423 0.3012 Uncertain 17_36895206_A->G 17 36895206 36895206 A G snp 40.77 0/1 69 7 4 3 0.43 intronic rs2075056 PCGF2 AU NM_007144 exon5 c.3639+92A>G 0.458866 0.2698 Uncertain 17_36896746_T->C 17 36896746 36896746 T C snp 513.77 1/1 39 13 0 13 1.0 intronic rs12601476 PCGF2 AU NM_007144 exon9 c.5220+51T>C 0.504193 0.7917 Uncertain 17_36909061_A->G 17 36909061 36909061 A G snp 921.77 1/1 66 31 0 31 1.0 UTR5 rs228274 PSMB3 AU 0.784944 0.9008 0.793787 0.8172 0.8814 Uncertain 17_36925750_G->A 17 36925750 36925750 G A snp 224.84 1/1 18 6 0 6 1.0 UTR3 rs2075060 PIP4K2B AU 0.34405 0.2371 Uncertain 17_36932200_C->G 17 36932200 36932200 C G snp 584.77 1/1 45 15 0 15 1.0 intronic rs228293 PIP4K2B AU NM_003559 exon4 c.7996-1739C>G 0.951078 0.997 Uncertain 17_36932891_A->G 17 36932891 36932891 A G snp 45.77 0/1 74 7 3 4 0.57 intronic rs228294 PIP4K2B AU NM_003559 exon4 c.7996-1048A>G 0.279952 0.37 0.2526 0.3939 Uncertain 17_36934124_C->T 17 36934124 36934124 C T snp 1085.77 1/1 81 30 0 30 1.0 intronic rs2075061 PIP4K2B AU NM_003559 exon4 c.8110+71C>T 0.588059 0.5883 Uncertain 17_36966701_G->T 17 36966701 36966701 G T snp 1263.77 0/1 99 133 77 56 0.42 intronic rs3744073 CWC25 AU NM_017748 exon6 c.8376-19G>T 0.114816 0.381 0.049192 0.1852 0.4942 Uncertain 17_36981915_C->T 17 36981915 36981915 C T snp 120.77 0/1 66 6 2 4 0.67 upstream rs12941407 CWC25 AU 0.447284 0.3373 Uncertain 17_36993655_T->C 17 36993655 36993655 T C snp 799.77 1/1 60 21 0 21 1.0 intronic rs645686 C17orf98 AU NM_001080465 exon2 c.2052+162T>C 0.963259 0.997 Uncertain 17_37010150_G->A 17 37010150 37010150 G A snp 577.77 1/1 45 17 0 17 1.0 upstream rs923370 RPL23 AU 0.84984 0.7728 Uncertain 17_37070658_A->G 17 37070658 37070658 A G snp 173.77 0/1 99 27 17 10 0.37 exonic rs525989 LASP1 AU synonymous SNV NM_001271608 exon4 c.A270G p.S90S 0.676717 0.5933 0.726469 0.6445 0.6138 Uncertain 17_37071189_C->T 17 37071189 37071189 C T snp 457.77 0/1 99 64 41 23 0.36 intronic rs2241009 LASP1 AU NM_006148 exon6 c.44853-106C>T 0.675319 0.5913 0.6455 0.6149 Uncertain 17_37075286_-->GGGCGAGGCCCGTGG 17 37075286 37075286 - GGGCGAGGCCCGTGG indel 17555.7 0/1 99 229 119 110 0.48 UTR3 rs11270367 LASP1 AU Uncertain 17_37076331_G->A 17 37076331 37076331 G A snp 568.77 0/1 99 44 21 23 0.52 UTR3 rs646097 LASP1 AU 0.685703 0.6022 0.7554 0.5786 Uncertain 17_37100166_C->T 17 37100166 37100166 C T snp 119.77 0/1 99 8 4 4 0.5 intronic rs9908180 FBXO47 AU NM_001008777 exon4 c.6562+177C>T 0.396765 0.5 Uncertain 17_37101380_T->C 17 37101380 37101380 T C snp 4402.77 1/1 99 153 0 153 1.0 exonic rs9906595 FBXO47 AU nonsynonymous SNV NM_001008777 exon7 c.A626G p.Q209R 0.972045 1 0.942027 0.9505 0.9999 0.71 T 0.000 P -0.965 T 0.0 T 0.0 T Pathogenic 17_37224288_G->A 17 37224288 37224288 G A snp 353.77 0/1 99 19 7 12 0.63 ncRNA_intronic rs4405583 LOC100131347 AU 0.288538 0.3492 Uncertain 17_37226045_G->A 17 37226045 37226045 G A snp 189.8 0/1 21 7 1 6 0.86 ncRNA_intronic rs142200407 LOC100131347 AU 0.00319489 0.0149 Uncertain 17_37228765_A->G 17 37228765 37228765 A G snp 441.77 0/1 99 56 34 22 0.39 ncRNA_exonic rs9907595 LOC100131347 AU 0.761382 0.6379 0.814823 0.7920 0.6796 Uncertain 17_37234111_G->A 17 37234111 37234111 G A snp 96.77 0/1 99 14 8 6 0.43 ncRNA_intronic rs3744078 LOC100131347 AU 0.483027 0.4107 Uncertain 17_37239671_A->G 17 37239671 37239671 A G snp 521.77 0/1 99 49 24 25 0.51 intronic rs9891236 PLXDC1 AU NM_020405 exon6 c.15619-40A>G 0.853834 0.6558 0.912117 0.8606 0.6800 Uncertain 17_37243927_A->G 17 37243927 37243927 A G snp 1480.77 0/1 99 116 56 60 0.52 exonic rs12602945 PLXDC1 AU synonymous SNV NM_020405 exon8 c.T840C p.Y280Y 0.291334 0.3492 0.242888 0.3175 0.3348 Uncertain 17_37244004_G->A 17 37244004 37244004 G A snp 1167.77 0/1 99 86 37 49 0.57 intronic rs12600774 PLXDC1 AU NM_020405 exon7 c.19863+49G>A 0.261981 0.3472 0.196401 0.2788 0.3294 Uncertain 17_37253064_T->G 17 37253064 37253064 T G snp 1516.77 0/1 99 119 53 66 0.55 intronic rs4795348 PLXDC1 AU NM_020405 exon8 c.38014-9042T>G 0.307508 0.2887 Uncertain 17_37253316_G->A 17 37253316 37253316 G A snp 1978.77 1/1 99 66 0 66 1.0 intronic rs4795349 PLXDC1 AU NM_020405 exon8 c.38014-8790G>A 0.830671 0.751 Uncertain 17_37262059_C->T 17 37262059 37262059 C T snp 1359.77 0/1 99 124 66 58 0.47 intronic rs3744352 PLXDC1 AU NM_020405 exon8 c.38014-47C>T 0.151757 0.2123 0.099493 0.1180 0.2113 Uncertain 17_37262180_G->A 17 37262180 37262180 G A snp 2497.77 0/1 99 212 102 110 0.52 exonic rs114059806 PLXDC1 AU synonymous SNV NM_020405 exon7 c.C738T p.S246S 0.000998403 0.005 0.0003 0.0046 1 D -0.949 T Likely benign 17_37262374_C->T 17 37262374 37262374 C T snp 93.28 1/1 9 4 0 4 1.0 intronic rs1989955 PLXDC1 AU NM_020405 exon8 c.38114+168C>T 0.730631 0.7173 Uncertain 17_37265378_C->T 17 37265378 37265378 C T snp 1717.77 1/1 99 48 0 48 1.0 intronic rs16490 PLXDC1 AU NM_020405 exon12 c.41408-122C>T 0.78734 0.7163 Uncertain 17_37265812_C->A 17 37265812 37265812 C A snp 531.77 0/1 99 32 14 18 0.56 intronic rs192780224 PLXDC1 AU NM_020405 exon12 c.41552+168C>A 0.00139776 0.0069 Uncertain 17_37296026_G->A 17 37296026 37296026 G A snp 495.77 0/1 99 62 40 22 0.35 exonic rs76011501 PLXDC1 AU nonsynonymous SNV NM_020405 exon2 c.C136T p.R46W 0.00339457 0.0169 0.000077 0.0010 0.0135 0 D 0.997 N -1.075 T 0.997 D 0.635 D Pathogenic 17_37316988_T->C 17 37316988 37316988 T C snp 624.77 0/1 99 59 33 26 0.44 exonic rs16522 ARL5C AU nonsynonymous SNV NM_001143968 exon5 c.A347G p.Q116R 0.139377 0.2609 0.123084 0.1515 0.2404 1 T 0.0 P -1.075 T 0.0 T 0.004 T Pathogenic 17_37317672_C->G 17 37317672 37317672 C G snp 909.77 1/1 66 29 0 29 1.0 intronic rs511163 ARL5C AU NM_001143968 exon3 c.4458+68C>G 0.821685 0.7837 Uncertain 17_37319029_T->G 17 37319029 37319029 T G snp 693.77 0/1 99 54 24 30 0.56 exonic rs544198 ARL5C AU nonsynonymous SNV NM_001143968 exon3 c.A190C p.M64L 0.235224 0.256 0.228866 0.2046 0.2546 0 D 0.837 P -1.032 T 0.095 T 0.255 T Pathogenic 17_37319065_C->T 17 37319065 37319065 C T snp 479.77 0/1 99 38 19 19 0.5 exonic rs657672 ARL5C AU nonsynonymous SNV NM_001143968 exon3 c.G154A p.V52M 0.132188 0.256 0.113009 0.1437 0.2508 0 D 1.000 P -1.058 T 0.959 D 0.66 D Pathogenic 17_37319103_T->C 17 37319103 37319103 T C snp 289.77 0/1 99 17 6 11 0.65 exonic rs657723 ARL5C AU nonsynonymous SNV NM_001143968 exon3 c.A116G p.N39S 0.333067 0.256 0.320631 0.2447 0.2523 0 D 0.906 P -0.958 T 0.006 T 0.009 T Pathogenic 17_37321538_G->A 17 37321538 37321538 G A snp 248.77 0/1 99 26 16 10 0.38 intronic rs520054 ARL5C AU NM_001143968 exon5 c.8246+146G>A 0.336062 0.255 Uncertain 17_37321961_C->T 17 37321961 37321961 C T snp 3222.65 0/1 99 250 115 135 0.54 intronic rs593772 ARL5C AU NM_001143968 exon6 c.8821-6C>T 0.0750799 0.127 0.073149 0.0846 0.1339 Uncertain 17_37322080_T->C 17 37322080 37322080 T C snp 2187.77 0/1 99 170 81 89 0.52 UTR5 rs16527 ARL5C AU 0.336462 0.256 0.322821 Uncertain 17_37332036_A->G 17 37332036 37332036 A G snp 525.77 0/1 99 34 16 18 0.53 intronic rs529955 CACNB1 AU NM_000723 exon1 c.465+126A>G 0.317692 0.249 Uncertain 17_37343983_T->C 17 37343983 37343983 T C snp 604.77 0/1 99 43 23 20 0.47 intronic rs16968669 CACNB1 AU NM_199248 exon10 c.10357+129T>C 0.0471246 0.1409 Uncertain 17_37369416_G->A 17 37369416 37369416 G A snp 1083.77 0/1 99 94 48 46 0.49 intronic rs1859262 STAC2 AU NM_198993 exon2 c.841+31G>A 0.370807 0.4167 0.383674 0.3967 0.3756 Uncertain 17_37371519_T->C 17 37371519 37371519 T C snp 331.77 0/1 99 35 21 14 0.4 intronic rs11078892 STAC2 AU NM_198993 exon7 c.2939+36T>C 0.628195 0.7024 0.573274 0.5668 0.6873 Uncertain 17_37396201_G->T 17 37396201 37396201 G T snp 4683.77 1/1 99 171 2 169 0.99 intergenic rs34473775 STAC2 AU 0.621006 0.7361 Uncertain 17_37399364_T->G 17 37399364 37399364 T G snp 738.77 1/1 54 26 0 26 1.0 intergenic rs2338795 STAC2 AU 0.627596 0.7361 Uncertain 17_37399379_G->T 17 37399379 37399379 G T snp 1164.77 1/1 84 37 0 37 1.0 intergenic rs2879258 STAC2 AU 0.874002 0.7569 Uncertain 17_37401051_A->G 17 37401051 37401051 A G snp 803.77 1/1 60 24 0 24 1.0 intergenic rs11078895 STAC2 AU 0.779752 0.7569 Uncertain 17_37410700_C->T 17 37410700 37410700 C T snp 434.77 1/1 33 12 0 12 1.0 UTR3 rs752314 FBXL20 AU 0.627596 0.7361 Uncertain 17_37410892_C->G 17 37410892 37410892 C G snp 4948.77 1/1 99 186 0 186 1.0 UTR3 rs2879259 FBXL20 AU 0.770367 0.7579 Uncertain 17_37417575_C->G 17 37417575 37417575 C G snp 881.77 1/1 66 24 0 24 1.0 UTR3 rs3744348 FBXL20 AU 0.620407 0.7371 Uncertain 17_37421767_T->C 17 37421767 37421767 T C snp 408.77 1/1 33 13 0 13 1.0 intronic rs2061338 FBXL20 AU NM_001184906 exon3 c.3994+61T>C 0.627995 0.7361 0.598993 Uncertain 17_37425238_T->G 17 37425238 37425238 T G snp 326.78 1/1 27 10 0 10 1.0 intronic rs1966916 FBXL20 AU NM_001184906 exon4 c.7412+114T>G 0.627596 0.7361 Uncertain 17_37425262_A->C 17 37425262 37425262 A C snp 96.28 1/1 9 3 0 3 1.0 intronic rs1966915 FBXL20 AU NM_001184906 exon4 c.7412+138A>C 0.627596 0.7361 Uncertain 17_37427115_A->- 17 37427115 37427115 A - indel 155.73 0/1 76 31 9 22 0.71 splicing rs11307198 FBXL20 AU NM_001184906 exon5 c.9397+6delA 0.554513 0.5833 0.4991 0.4973 Pathogenic 17_37587535_T->- 17 37587535 37587535 T - indel 414.73 1/1 51 36 0 36 1.0 intronic rs35691977 MED1 AU NM_004774 exon9 c.23714+94delT 0.607428 0.6071 Uncertain 17_37657460_-->T 17 37657460 37657460 - T indel 286.73 0/1 99 43 25 18 0.42 intronic rs11406230 CDK12 AU NM_016507 exon6 c.39178-42insT 0.260383 0.254 0.264842 0.3545 0.3021 Uncertain 17_37671910_G->A 17 37671910 37671910 G A snp 1074.77 1/1 78 32 0 32 1.0 intronic rs8070799 CDK12 AU NM_016507 exon9 c.53659-73G>A 0.982428 1 Uncertain 17_37825089_A->G 17 37825089 37825089 A G snp 227.84 1/1 18 7 0 7 1.0 intronic rs200173 PNMT AU NM_002686 exon1 c.202+159A>G 0.994409 1 Uncertain 17_37866005_C->T 17 37866005 37866005 C T snp 2585.77 0/1 99 249 132 117 0.47 intronic rs1810132 ERBB2 AU NM_004448 exon5 c.9574-60C>T 0.583666 0.4048 0.635567 Uncertain 17_37868715_C->T 17 37868715 37868715 C T snp 320.77 0/1 99 39 23 16 0.41 intronic rs4252627 ERBB2 AU NM_004448 exon9 c.12210+14C>T 0.444489 0.3988 0.512302 0.6058 0.3811 ID=COSN165414;OCCURENCE=1(breast) Uncertain 17_37872146_G->A 17 37872146 37872146 G A snp 3173.77 0/1 99 244 102 142 0.58 exonic rs147076339 ERBB2 AU synonymous SNV NM_004448 exon12 c.G1467A p.P489P 0.000399361 0.002 0.000231 0.0005 0.0027 Uncertain 17_37879588_A->G 17 37879588 37879588 A G snp 623.77 0/1 99 91 58 33 0.36 exonic rs1136201 ERBB2 AU nonsynonymous SNV NM_004448 exon17 c.A1963G p.I655V 0.121406 0.124 0.168538 0.1964 0.1258 0.39 T 1.0 P -1.086 T 0.679 T 0.255 P CLINSIG=non-pathogenic|untested;CLNDBN=ERBB2_POLYMORPHISM|not_specified;CLNREVSTAT=no_assertion_criteria_provided|no_assertion_provided;CLNACC=RCV000014887.1|RCV000120744.1;CLNDSDB=.|MedGen;CLNDSDBID=.|CN169374 ID=CM004332;DIS=Breast cancer, increased risk, association with;TAG=DP;PUB=10699071 DP Pathogenic 17_37879762_G->A 17 37879762 37879762 G A snp 1149.77 0/1 99 138 84 54 0.39 intronic rs903506 ERBB2 AU NM_004448 exon18 c.23299-28G>A 0.451278 0.4018 0.513613 0.6155 0.3896 Uncertain 17_37884037_C->G 17 37884037 37884037 C G snp 1499.77 0/1 99 113 56 57 0.5 exonic rs1058808 ERBB2 AU nonsynonymous SNV NM_004448 exon27 c.C3508G p.P1170A 0.452077 0.4018 0.513532 0.6070 0.3758 0.03 T 1.0 P -0.881 T 0.953 T 0.607 D CLINSIG=untested;CLNDBN=not_specified;CLNREVSTAT=no_assertion_provided;CLNACC=RCV000120753.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 ID=CM087578;DIS=Lung cancer, increased risk in females, non-smokers and non-drinkers;TAG=DP;PUB=19055823 DP Pathogenic 17_37898543_T->C 17 37898543 37898543 T C snp 3856.77 1/1 99 145 0 145 1.0 exonic rs2952142 GRB7 AU nonsynonymous SNV NM_001242442 exon2 c.T58C p.C20R 0.998602 1 0.997847 0.9994 1 0.26 T 0.000 P -1.011 T Pathogenic 17_37921899_C->T 17 37921899 37921899 C T snp 638.77 1/1 48 16 0 16 1.0 UTR3 rs2952141 IKZF3 AU 0.998602 1 Uncertain 17_37922259_G->A 17 37922259 37922259 G A snp 2080.77 0/1 99 177 95 82 0.46 exonic rs907092 IKZF3 AU synonymous SNV NM_012481 exon8 c.C1314T p.S438S 0.298722 0.2937 0.356374 0.4006 0.2749 1.000 P -0.873 T Likely benign 17_37985801_A->G 17 37985801 37985801 A G snp 392.77 0/1 99 25 9 16 0.64 intronic rs3816470 IKZF3 AU NM_183230 exon5 c.63699+60A>G 0.466254 0.2827 Uncertain 17_38020141_C->T 17 38020141 38020141 C T snp 39.77 0/1 68 4 2 2 0.5 intronic rs9635726 IKZF3 AU NM_183230 exon7 c.98330-231C>T 0.280351 0.6438 Uncertain 17_38020419_T->C 17 38020419 38020419 T C snp 1157.77 0/1 99 111 64 47 0.42 UTR5 rs1453559 IKZF3 AU 0.457069 0.2827 0.527226 0.4716 0.2554 Uncertain 17_38024626_C->T 17 38024626 38024626 C T snp 704.77 0/1 99 58 29 29 0.5 exonic rs11557466 ZPBP2 AU synonymous SNV NM_199321 exon1 c.C19T p.L7L 0.290535 0.2827 0.349070 0.3960 0.2545 Uncertain 17_38028634_G->T 17 38028634 38028634 G T snp 598.77 0/1 99 73 42 31 0.42 exonic rs11557467 ZPBP2 AU nonsynonymous SNV NM_199321 exon5 c.G518T p.S173I 0.379593 0.2817 0.432800 0.4459 0.2589 0.02 T 0.000 P -0.920 T 0.295 T 0.266 T ID=CM1111300;DIS=Asthma, association with;TAG=DP;PUB=21985515 DP Pathogenic 17_38031674_C->T 17 38031674 38031674 C T snp 1842.77 0/1 99 150 72 78 0.52 exonic rs10852935 ZPBP2 AU synonymous SNV NM_199321 exon7 c.C876T p.C292C 0.290136 0.2827 0.347609 0.3957 0.2569 Uncertain 17_38031714_C->T 17 38031714 38031714 C T snp 828.77 0/1 99 62 27 35 0.56 intronic rs10852936 ZPBP2 AU NM_199321 exon7 c.7080+27C>T 0.334265 0.2817 0.364583 0.3834 0.2246 Uncertain 17_38062196_G->A 17 38062196 38062196 G A snp 1283.77 0/1 99 120 64 56 0.47 exonic rs2305480 GSDMB AU nonsynonymous SNV NM_001042471 exon8 c.C892T p.P298S 0.286741 0.2817 0.342534 0.3900 0.2581 0.57 T 0.0 P -0.950 T 0.877 T 0.675 P Pathogenic 17_38062217_C->T 17 38062217 38062217 C T snp 1508.77 0/1 99 142 79 63 0.44 exonic rs2305479 GSDMB AU nonsynonymous SNV NM_001042471 exon8 c.G871A p.G291R 0.311102 0.2817 0.380594 0.4222 0.2586 0.06 T 0.0 P -0.969 T 1.0 D 0.999 D Pathogenic 17_38063381_C->T 17 38063381 38063381 C T snp 388.77 0/1 99 41 22 19 0.46 intronic rs883770 GSDMB AU NM_001165958 exon5 c.2176+141C>T 0.310703 0.2817 Uncertain 17_38064405_C->T 17 38064405 38064405 C T snp 2400.77 0/1 99 228 118 110 0.48 intronic rs11078927 GSDMB AU NM_001165959 exon5 c.3364-23C>T 0.285942 0.2817 0.3921 0.3030 Uncertain 17_38064469_T->C 17 38064469 38064469 T C snp 2128.77 0/1 99 217 117 100 0.46 intronic rs11078928 GSDMB AU NM_001165959 exon5 c.3403+2T>C 0.285543 0.2817 0.345379 0.3926 0.3043 0.0 P ID=CS1414002;DIS=Altered splicing;TAG=FP;PUB=24044605 FP Uncertain 17_38066240_T->C 17 38066240 38066240 T C snp 656.77 0/1 99 43 19 24 0.56 intronic rs2290400 GSDMB AU NM_001165959 exon7 c.5113+63T>C 0.420527 0.2937 Uncertain 17_38066267_G->T 17 38066267 38066267 G T snp 360.77 0/1 99 25 13 12 0.48 intronic rs1008723 GSDMB AU NM_001165959 exon7 c.5113+90G>T 0.353634 0.2877 Uncertain 17_38068514_T->C 17 38068514 38068514 T C snp 83.77 0/1 74 7 4 3 0.43 intronic rs1011082 GSDMB AU NM_001165959 exon8 c.7514-64T>C 0.637979 0.7103 Uncertain 17_38100134_G->C 17 38100134 38100134 G C snp 857.77 0/1 99 61 29 32 0.52 intronic rs4795406 LRRC3C AU NM_001195545 exon2 c.2409-51G>C 0.486821 0.5675 Uncertain 17_38121993_G->A 17 38121993 38121993 G A snp 2799.77 0/1 99 249 125 124 0.5 exonic rs3894194 GSDMA AU nonsynonymous SNV NM_178171 exon2 c.G53A p.R18Q 0.430911 0.5397 0.404068 0.4824 0.5768 0.44 T 0.059 P -0.939 T 0.016 T 0.01 T ID=CM073116;DIS=Asthma, increased risk, association with;TAG=DP;PUB=17611496 DP Pathogenic 17_38122200_G->A 17 38122200 38122200 G A snp 68.77 0/1 97 8 5 3 0.38 intronic rs8069202 GSDMA AU NM_178171 exon2 c.214+46G>A 0.434105 0.5397 0.371334 0.4395 0.5757 Uncertain 17_38122680_G->T 17 38122680 38122680 G T snp 454.77 0/1 99 30 12 18 0.6 exonic rs7212938 GSDMA AU nonsynonymous SNV NM_178171 exon3 c.G382T p.V128L 0.602465 0.5269 0.5003 1 T 0.0 P -1.033 T 0.0 T 0.0 T Pathogenic 17_38122686_G->A 17 38122686 38122686 G A snp 470.77 0/1 99 27 10 17 0.63 exonic rs7212944 GSDMA AU nonsynonymous SNV NM_178171 exon3 c.G388A p.E130K 0.31849 0.38 0.332017 0.3264 0.3767 0.76 T 0.001 P -0.914 T 0.037 T 0.062 T Pathogenic 17_38122708_T->C 17 38122708 38122708 T C snp 427.77 0/1 73 18 4 14 0.78 intronic rs9914973 GSDMA AU NM_178171 exon3 c.750+18T>C 0.289537 0.3829 0.298545 0.3197 0.3873 Uncertain 17_38126912_ACACACAC->- 17 38126912 38126919 ACACACAC - indel 1857.73 1/1 44 30 1 29 0.97 intronic rs150060808 GSDMA AU NM_178171 exon4 c.4960+12_4960+19delACACACAC 0.36901 0.4762 0.4090 0.5046 Uncertain 17_38127713_A->G 17 38127713 38127713 A G snp 1248.77 1/1 93 45 0 45 1.0 intronic rs3916061 GSDMA AU NM_178171 exon5 c.5836-63A>G 0.89357 0.8879 Uncertain 17_38128584_-->G 17 38128584 38128584 - G indel 350.74 1/1 30 10 0 10 1.0 intronic rs397713502 GSDMA AU NM_178171 exon6 c.6489+155insG 0.791134 0.881 Uncertain 17_38128648_C->T 17 38128648 38128648 C T snp 1011.77 1/1 75 31 0 31 1.0 intronic rs3859192 GSDMA AU NM_178171 exon7 c.6899-191C>T 0.387181 0.497 Uncertain 17_38128714_G->A 17 38128714 38128714 G A snp 3069.77 1/1 99 107 0 107 1.0 intronic rs3859191 GSDMA AU NM_178171 exon7 c.6899-125G>A 0.381789 0.4762 Uncertain 17_38129996_A->T 17 38129996 38129996 A T snp 1732.77 1/1 99 54 0 54 1.0 intronic rs60137005 GSDMA AU NM_178171 exon8 c.8122-66A>T 0.381989 0.4742 0.436487 Uncertain 17_38130139_C->T 17 38130139 38130139 C T snp 2031.77 1/1 99 78 0 78 1.0 intronic rs56326707 GSDMA AU NM_178171 exon8 c.8143+56C>T 0.381989 0.4742 0.436049 Uncertain 17_38130492_T->C 17 38130492 38130492 T C snp 2215.77 1/1 99 76 0 76 1.0 intronic rs62066853 GSDMA AU NM_178171 exon9 c.8585-33T>C 0.202276 0.4276 0.179217 0.2531 0.4924 Uncertain 17_38131187_C->A 17 38131187 38131187 C A snp 1731.77 1/1 99 66 0 66 1.0 exonic rs56030650 GSDMA AU nonsynonymous SNV NM_178171 exon10 c.C941A p.T314N 0.382788 0.4742 0.427905 0.4271 0.5069 0.34 T 0.383 P -0.893 T 0.968 D 0.637 D Pathogenic 17_38137364_G->A 17 38137364 38137364 G A snp 895.77 0/1 99 112 66 46 0.41 exonic rs3087852 PSMD3 AU synonymous SNV NM_002809 exon1 c.G141A p.S47S 0.52516 0.4325 0.557823 0.5441 0.4646 Uncertain 17_38140524_T->C 17 38140524 38140524 T C snp 869.77 1/1 63 28 0 28 1.0 intronic rs3816471 PSMD3 AU NM_002809 exon2 c.3323-22T>C 0.886781 0.8819 0.930263 0.9053 0.8971 Uncertain 17_38142677_A->C 17 38142677 38142677 A C snp 373.77 0/1 99 23 10 13 0.57 intronic rs3816472 PSMD3 AU NM_002809 exon3 c.5604-150A>C 0.551917 0.4325 Uncertain 17_38145088_C->G 17 38145088 38145088 C G snp 456.77 0/1 99 27 10 17 0.63 intronic rs9915252 PSMD3 AU NM_002809 exon4 c.7849+16C>G 0.550919 0.4315 0.569429 0.5455 0.4179 Uncertain 17_38145828_A->G 17 38145828 38145828 A G snp 281.9 0/1 15 12 2 10 0.83 intronic rs57968500 PSMD3 AU NM_002809 exon5 c.8768-163A>G 0.336661 0.4504 Uncertain 17_38146264_A->- 17 38146264 38146264 A - indel 853.73 0/1 99 51 28 23 0.45 intronic rs3217173 PSMD3 AU NM_002809 exon6 c.9123-82delA 0.336462 0.4494 Uncertain 17_38153473_C->T 17 38153473 38153473 C T snp 495.77 0/1 99 27 9 18 0.67 intronic rs12453334 PSMD3 AU NM_002809 exon11 c.16359-109C>T 0.30651 0.4256 Uncertain 17_38153554_G->C 17 38153554 38153554 G C snp 1581.77 0/1 99 154 85 69 0.45 intronic rs2241244 PSMD3 AU NM_002809 exon11 c.16359-28G>C 0.550519 0.4335 0.568891 0.5447 0.4189 Uncertain 17_38153714_-->GA 17 38153714 38153714 - GA indel 9713.73 1/1 99 217 0 217 1.0 intronic rs10671123 PSMD3 AU NM_002809 exon12 c.16533-42insGA 0.88758 0.8829 0.930431 0.9035 0.8963 Uncertain 17_38153875_T->A 17 38153875 38153875 T A snp 1021.77 0/1 99 65 24 41 0.63 UTR3 rs7021 PSMD3 AU 0.336262 0.4494 0.355304 0.3711 0.4920 Uncertain 17_38171668_C->G 17 38171668 38171668 C G snp 835.77 0/1 99 82 48 34 0.41 UTR5 rs2227322 CSF3 AU 0.339058 0.4276 Uncertain 17_38172192_G->A 17 38172192 38172192 G A snp 477.77 1/1 36 16 0 16 1.0 intronic rs2227324 CSF3 AU NM_172220 exon2 c.380+85G>A 0.863219 0.8611 Uncertain 17_38172305_T->C 17 38172305 38172305 T C snp 59.74 1/1 6 3 0 3 1.0 intronic rs2071369 CSF3 AU NM_172219 exon3 c.758-180T>C 0.863219 0.8601 Uncertain 17_38172452_T->C 17 38172452 38172452 T C snp 989.77 1/1 72 35 0 35 1.0 intronic rs2071370 CSF3 AU NM_172219 exon3 c.758-33T>C 0.885583 0.8601 0.938976 0.8977 0.8760 Uncertain 17_38172942_A->G 17 38172942 38172942 A G snp 2028.77 1/1 99 53 0 53 1.0 intronic rs2227338 CSF3 AU NM_172220 exon3 c.1157+58A>G 0.863019 0.8601 Uncertain 17_38172973_-->G 17 38172973 38172973 - G indel 886.73 1/1 63 22 0 22 1.0 intronic rs563103855 CSF3 AU NM_172220 exon4 c.1320-74insG 0.863219 0.8601 Uncertain 17_38173143_G->A 17 38173143 38173143 G A snp 468.77 0/1 99 40 17 23 0.57 exonic rs25645 CSF3 AU synonymous SNV NM_001178147 exon4 c.G438A p.L146L 0.313698 0.4276 0.279486 0.3816 0.4129 Uncertain 17_38176256_A->T 17 38176256 38176256 A T snp 712.77 0/1 99 57 28 29 0.51 intronic rs2270401 MED24 AU NM_001079518 exon2 c.405+70A>T 0.313698 0.4266 0.4102 0.4326 Uncertain 17_38176476_A->G 17 38176476 38176476 A G snp 2016.77 1/1 99 69 0 69 1.0 intronic rs9899955 MED24 AU NM_001079518 exon3 c.744-49A>G 0.863419 0.8611 0.914687 0.9113 0.8710 Uncertain 17_38178149_A->G 17 38178149 38178149 A G snp 177.77 0/1 99 20 14 6 0.3 intronic rs2302776 MED24 AU NM_001079518 exon4 c.2426-58A>G 0.44988 0.4464 Uncertain 17_38178627_A->G 17 38178627 38178627 A G snp 1633.77 0/1 99 153 78 75 0.49 intronic rs3213762 MED24 AU NM_001079518 exon5 c.2865-19A>G 0.335863 0.4375 0.323873 0.4304 0.5422 Uncertain 17_38179275_G->T 17 38179275 38179275 G T snp 185.77 0/1 99 15 8 7 0.47 intronic rs12451897 MED24 AU NM_001079518 exon7 c.3602-108G>T 0.314696 0.4226 Uncertain 17_38179290_G->A 17 38179290 38179290 G A snp 403.77 0/1 99 25 12 13 0.52 intronic rs4794824 MED24 AU NM_001079518 exon7 c.3602-93G>A 0.359824 0.4325 Uncertain 17_38179492_A->G 17 38179492 38179492 A G snp 2474.77 0/1 99 226 115 111 0.49 exonic rs2302777 MED24 AU synonymous SNV NM_001079518 exon19 c.T2103C p.I701I 0.314497 0.4226 0.283485 0.3820 0.4088 Uncertain 17_38179667_A->G 17 38179667 38179667 A G snp 1945.77 1/1 99 71 0 71 1.0 intronic rs2302778 MED24 AU NM_001079518 exon7 c.3867+19A>G 0.735623 0.8562 0.727371 0.7663 0.8833 Uncertain 17_38183090_G->T 17 38183090 38183090 G T snp 2997.77 0/1 99 228 102 126 0.55 intronic rs2302774 MED24 AU NM_001079518 exon10 c.7327-18G>T 0.31869 0.4226 0.286483 0.3876 0.4067 Uncertain 17_38188419_C->T 17 38188419 38188419 C T snp 330.77 0/1 99 33 19 14 0.42 intronic rs3935281 MED24 AU NM_001079518 exon17 c.12562+76C>T 0.318291 0.4246 0.288436 Uncertain 17_38188844_A->G 17 38188844 38188844 A G snp 173.77 0/1 99 20 13 7 0.35 intronic rs7502514 MED24 AU NM_001079518 exon18 c.13120-57A>G 0.64976 0.5625 Uncertain 17_38189049_G->A 17 38189049 38189049 G A snp 2051.77 0/1 99 165 75 90 0.55 intronic rs4072639 MED24 AU NM_001079518 exon18 c.13234+34G>A 0.318291 0.4246 0.284792 0.3810 0.4081 Uncertain 17_38189055_A->G 17 38189055 38189055 A G snp 1977.77 0/1 99 158 72 86 0.54 intronic rs3935280 MED24 AU NM_001079518 exon18 c.13234+40A>G 0.626997 0.5625 0.605259 0.6290 0.5156 Uncertain 17_38189793_T->C 17 38189793 38189793 T C snp 856.77 0/1 99 57 24 33 0.58 intronic rs11078934 MED24 AU NM_001079518 exon20 c.13928+84T>C 0.664736 0.5625 Uncertain 17_38192137_T->G 17 38192137 38192137 T G snp 370.77 0/1 99 26 10 16 0.62 intronic rs11078935 MED24 AU NM_001079518 exon22 c.16267+89T>G 0.315495 0.4226 Uncertain 17_38252582_-->T 17 38252582 38252582 - T indel 1598.73 1/1 99 36 0 36 1.0 intronic rs369097446 NR1D1 AU NM_021724 exon5 c.3360-113insT 0.639976 0.7589 Uncertain 17_38252660_G->A 17 38252660 38252660 G A snp 2521.77 1/1 99 94 0 94 1.0 intronic rs883871 NR1D1 AU NM_021724 exon5 c.3360-35G>A 0.302316 0.5833 0.185145 0.1903 0.5712 Uncertain 17_38252667_G->A 17 38252667 38252667 G A snp 2527.77 1/1 99 93 0 93 1.0 intronic rs939346 NR1D1 AU NM_021724 exon5 c.3360-28G>A 0.996605 1 0.993618 0.9949 0.9999 Uncertain 17_38253212_C->T 17 38253212 38253212 C T snp 264.8 1/1 21 7 0 7 1.0 intronic rs2314339 NR1D1 AU NM_021724 exon7 c.3982-105C>T 0.294129 0.5833 Uncertain 17_38253228_T->C 17 38253228 38253228 T C snp 508.77 1/1 39 15 0 15 1.0 intronic rs2102928 NR1D1 AU NM_021724 exon7 c.3982-89T>C 0.8127 0.8284 Uncertain 17_38256185_A->C 17 38256185 38256185 A C snp 292.77 0/1 99 25 12 13 0.52 intronic rs4795424 NR1D1 AU NM_021724 exon8 c.6981-131A>C 0.345847 0.5675 Uncertain 17_38296627_ACAC->- 17 38296627 38296630 ACAC - indel 618.74 1/1 26 14 1 13 0.93 UTR5 rs61449096 CASC3 AU Uncertain 17_38324767_T->- 17 38324767 38324767 T - indel 711.73 1/1 57 22 0 22 1.0 intronic rs11327454 CASC3 AU NM_007359 exon11 c.27869+97delT 1 1 Uncertain 17_38334359_-->G 17 38334359 38334359 - G indel 1150.73 1/1 84 28 0 28 1.0 UTR5 rs398030836 RAPGEFL1 AU 1 1 1 1 Uncertain 17_38345274_AG->- 17 38345274 38345275 AG - indel 1319.73 0/1 99 59 30 29 0.49 intronic rs137956498 RAPGEFL1 AU NM_016339 exon5 c.4746+44_4746+45delAG 0.16234 0.2837 0.126857 0.1291 0.2948 Uncertain 17_38348353_T->C 17 38348353 38348353 T C snp 379.77 0/1 99 24 9 15 0.63 intronic rs55772196 RAPGEFL1 AU NM_016339 exon11 c.7980-111T>C 0.168131 0.2877 Uncertain 17_38349127_G->A 17 38349127 38349127 G A snp 1239.77 0/1 99 106 53 53 0.5 intronic rs2280400 RAPGEFL1 AU NM_016339 exon13 c.8693-50G>A 0.163738 0.2857 0.130324 0.1378 0.3007 Uncertain 17_38430100_A->C 17 38430100 38430100 A C snp 53.77 0/1 82 32 24 8 0.25 exonic rs766911887 WIPF2 AU synonymous SNV NM_133264 exon6 c.A1029C p.P343P 0.0043 0.0003 Uncertain 17_38434251_T->C 17 38434251 38434251 T C snp 382.77 0/1 99 28 15 13 0.46 intronic rs112148679 WIPF2 AU NM_133264 exon8 c.21725-185T>C 0.147165 0.2877 Uncertain 17_38457151_G->A 17 38457151 38457151 G A snp 1148.77 0/1 99 96 43 53 0.55 exonic rs13706 CDC6 AR nonsynonymous SNV NM_001254 exon10 c.G1321A p.V441I 0.279952 0.3482 0.227895 0.1585 0.3512 0.5 T 0.994 P -0.891 T 0.838 T 0.444 P CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000116607.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 ID=CM065057;DIS=Colorectal cancer, increased risk, association with;TAG=DP;PUB=17000706 DP Pathogenic 17_38519291_C->G 17 38519291 38519291 C G snp 569.77 0/1 99 69 43 26 0.38 exonic rs502041 GJD3 AU synonymous SNV NM_152219 exon1 c.G777C p.P259P 0.787141 0.7827 1 . Uncertain 17_38548889_G->A 17 38548889 38548889 G A snp 1857.77 0/1 99 141 64 77 0.55 exonic rs190200755 TOP2A AU synonymous SNV NM_001067 exon30 c.C3912T p.D1304D 0.000399361 0.002 0.000083 0.0004 0.0057 Uncertain 17_38556770_T->C 17 38556770 38556770 T C snp 2326.77 0/1 99 201 95 106 0.53 intronic rs471692 TOP2A AU NM_001067 exon14 c.11010-10T>C 0.812899 0.7867 0.861545 0.7958 0.7315 Uncertain 17_38563710_C->G 17 38563710 38563710 C G snp 155.77 0/1 99 9 3 6 0.67 intronic rs558068 TOP2A AU NM_001067 exon23 c.18030-90C>G 0.810104 0.7778 Uncertain 17_38566396_G->A 17 38566396 38566396 G A snp 185.9 1/1 15 9 0 9 1.0 intronic rs2715548 TOP2A AU NM_001067 exon26 c.21590-964G>A 0.9998 1 Uncertain 17_38600092_G->A 17 38600092 38600092 G A snp 104.28 1/1 9 5 0 5 1.0 exonic rs598892 IGFBP4 AU synonymous SNV NM_001552 exon1 c.G105A p.L35L 0.357827 0.4752 0.236818 0.4982 0.5933 Uncertain 17_38609187_G->A 17 38609187 38609187 G A snp 1038.77 0/1 99 97 50 47 0.48 intronic rs1009727 IGFBP4 AU NM_001552 exon2 c.9249-49G>A 0.336062 0.5298 0.278256 0.3227 0.5227 Uncertain 17_38609207_T->C 17 38609207 38609207 T C snp 1374.77 0/1 99 120 64 56 0.47 intronic rs1009728 IGFBP4 AU NM_001552 exon2 c.9249-29T>C 0.34365 0.5317 0.286791 0.3309 0.5267 Uncertain 17_38609431_-->AC 17 38609431 38609431 - AC indel 1386.73 1/1 99 48 0 48 1.0 intronic rs3055243 IGFBP4 AU NM_001552 exon2 c.9407+37insAC 0.889577 0.9058 0.7961 0.8007 Uncertain 17_38640605_C->T 17 38640605 38640605 C T snp 160.77 0/1 99 17 9 8 0.47 intronic rs4890115 TNS4 AU NM_032865 exon8 c.6896-130C>T 0.19349 0.4038 Uncertain 17_38640744_C->T 17 38640744 38640744 C T snp 1398.77 0/1 99 132 74 58 0.44 exonic rs2290207 TNS4 AU nonsynonymous SNV NM_032865 exon6 c.G1493A p.S498N 0.276757 0.3562 0.218515 0.2720 0.3693 0.65 T 0.0 P -0.900 T 0.001 T 0.003 T Pathogenic 17_38640992_A->G 17 38640992 38640992 A G snp 321.77 0/1 99 22 9 13 0.59 intronic rs2290206 TNS4 AU NM_032865 exon8 c.7022+131A>G 0.272165 0.3591 Uncertain 17_38641382_C->T 17 38641382 38641382 C T snp 145.77 0/1 99 12 6 6 0.5 intronic rs35260012 TNS4 AU NM_032865 exon9 c.7420+123C>T 0.273163 0.3581 Uncertain 17_38643780_G->A 17 38643780 38643780 G A snp 216.77 0/1 99 14 7 7 0.5 intronic rs3764423 TNS4 AU NM_032865 exon10 c.9873+68G>A 0.192292 0.4028 Uncertain 17_38644752_G->A 17 38644752 38644752 G A snp 1098.77 0/1 99 93 48 45 0.48 intronic rs34377860 TNS4 AU NM_032865 exon11 c.10958-45G>A 0.345048 0.3571 0.284484 0.2853 0.3700 Uncertain 17_38645125_A->G 17 38645125 38645125 A G snp 807.77 0/1 99 72 42 30 0.42 exonic rs3764424 TNS4 AU nonsynonymous SNV NM_032865 exon3 c.T536C p.L179P 0.348243 0.3601 0.272734 0.2926 0.3683 1 T 0.324 P -0.955 T 0.0 T 0.0 T Pathogenic 17_38645331_C->T 17 38645331 38645331 C T snp 633.77 0/1 99 39 14 25 0.64 intronic rs34879399 TNS4 AU NM_032865 exon11 c.11382+110C>T 0.272165 0.3571 Uncertain 17_38652102_G->A 17 38652102 38652102 G A snp 278.77 0/1 99 32 20 12 0.38 intronic rs77828379 TNS4 AU NM_032865 exon12 c.18399-136G>A 0.00778754 0.0357 Uncertain 17_38784927_G->A 17 38784927 38784927 G A snp 2001.77 1/1 99 69 0 69 1.0 UTR3 rs757412 SMARCE1 AD 0.265575 0.3462 Uncertain 17_38786451_A->T 17 38786451 38786451 A T snp 335.78 1/1 27 11 0 11 1.0 intronic rs4890092 SMARCE1 AD NM_003079 exon2 c.1929-514A>T 0.731829 0.7679 0.6295 0.7850 Uncertain 17_38788153_T->C 17 38788153 38788153 T C snp 174.9 1/1 15 5 0 5 1.0 intronic rs16966018 SMARCE1 AD NM_003079 exon3 c.2909+208T>C 0.190296 0.3492 Uncertain 17_38813824_G->A 17 38813824 38813824 G A snp 479.77 1/1 36 15 0 15 1.0 intronic rs8068721 KRT222 AU NM_152349 exon2 c.1086+85G>A 0.707867 0.7222 Uncertain 17_38813828_-->T 17 38813828 38813828 - T indel 381.73 1/1 42 15 0 15 1.0 intronic rs11412331 KRT222 AU NM_152349 exon2 c.1086+89insT 0.717851 0.7212 Uncertain 17_38816526_A->G 17 38816526 38816526 A G snp 687.77 1/1 51 21 0 21 1.0 intronic rs917593 KRT222 AU NM_152349 exon4 c.3806+67A>G 0.707867 0.7222 Uncertain 17_38816595_T->C 17 38816595 38816595 T C snp 57.74 1/1 6 3 0 3 1.0 intronic rs2008469 KRT222 AU NM_152349 exon4 c.3806+136T>C 0.707867 0.7222 Uncertain 17_38855772_T->C 17 38855772 38855772 T C snp 1018.77 0/1 99 108 64 44 0.41 exonic rs2462961 KRT24 AU nonsynonymous SNV NM_019016 exon6 c.A1285G p.K429E 0.580671 0.5823 0.486929 0.5219 0.5982 0.84 T 0.0 P -0.950 T 0.0 T 0.0 T Pathogenic 17_38856662_T->C 17 38856662 38856662 T C snp 783.77 0/1 99 52 23 29 0.56 intronic rs887376 KRT24 AU NM_019016 exon5 c.2147+27T>C 0.478634 0.5823 0.382285 0.4887 0.5966 Uncertain 17_38857446_C->A 17 38857446 38857446 C A snp 1239.77 0/1 99 149 93 56 0.38 exonic rs874889 KRT24 AU nonsynonymous SNV NM_019016 exon3 c.G801T p.M267I 0.476837 0.5823 0.380901 0.4860 0.5965 0.37 T 0.007 P -0.903 T 0.0 T 0.002 T Pathogenic 17_38858029_A->T 17 38858029 38858029 A T snp 37.77 0/1 66 6 4 2 0.33 intronic rs6416908 KRT24 AU NM_019016 exon7 c.3614-73A>T 0.65016 0.6081 Uncertain 17_38858135_A->- 17 38858135 38858135 A - indel 2982.73 0/1 99 182 103 79 0.43 exonic rs11309872 KRT24 AU frameshift deletion NM_019016 exon2 c.666delT p.N222fs 0.464856 0.5952 0.368530 0.4839 0.6114 ID=COSM1684505;OCCURENCE=1(haematopoietic_and_lymphoid_tissue) Pathogenic 17_38905477_T->G 17 38905477 38905477 T G snp 1817.77 0/1 99 147 75 72 0.49 intronic rs10491127 KRT25 AR NM_181534 exon2 c.981-32T>G 0.500998 0.7292 0.448101 0.4887 0.7248 Uncertain 17_38911212_G->A 17 38911212 38911212 G A snp 2727.77 1/1 99 100 0 100 1.0 exonic rs12951078 KRT25 AR synonymous SNV NM_181534 exon1 c.C312T p.N104N 0.467452 0.8224 0.428879 0.5219 0.8503 Uncertain 17_38911327_C->G 17 38911327 38911327 C G snp 3294.77 1/1 99 114 0 114 1.0 exonic rs35076248 KRT25 AR nonsynonymous SNV NM_181534 exon1 c.G197C p.G66A 0.165335 0.1657 0.141166 0.1442 0.1933 0.33 T 0.403 P -1.124 T 0.003 T 0.003 T Pathogenic 17_38923933_T->- 17 38923933 38923933 T - indel 1222.73 1/1 99 46 0 46 1.0 intronic rs5820359 KRT26 AU NM_181539 exon2 c.1139+28delT 0.168331 0.1677 0.144994 0.1529 0.1967 Uncertain 17_38923986_G->A 17 38923986 38923986 G A snp 643.77 1/1 48 18 0 18 1.0 intronic rs975079 KRT26 AU NM_181539 exon2 c.1139+81G>A 0.150559 0.1667 Uncertain 17_38926002_G->A 17 38926002 38926002 G A snp 4655.77 1/1 99 172 0 172 1.0 splicing rs16966256 KRT26 AU NM_181539 exon4 c.3239-3G>A 0.173722 0.1667 0.147855 0.1502 0.1930 Pathogenic 17_38928014_A->G 17 38928014 38928014 A G snp 6501.77 1/1 99 231 0 231 1.0 exonic rs9898164 KRT26 AU nonsynonymous SNV NM_181539 exon1 c.T352C p.W118R 0.155751 0.1667 0.129863 0.1411 0.1930 0.1 T 0.999 P -1.329 T 0.997 D 0.976 D Pathogenic 17_38935812_A->G 17 38935812 38935812 A G snp 4710.77 1/1 99 184 0 184 1.0 exonic rs981684 KRT27 AU nonsynonymous SNV NM_181537 exon5 c.T914C p.I305T 0.555711 0.8254 0.517761 0.5581 0.8527 1 T 0.000 P -0.949 T 0.0 T 0.0 T Pathogenic 17_38935899_G->C 17 38935899 38935899 G C snp 4313.77 1/1 99 152 0 152 1.0 intronic rs118014684 KRT27 AU NM_181537 exon4 c.2629+20G>C 0.0654952 0.1627 0.005382 0.0479 0.1901 Uncertain 17_38938316_C->T 17 38938316 38938316 C T snp 2629.77 1/1 99 100 0 100 1.0 exonic rs12453124 KRT27 AU nonsynonymous SNV NM_181537 exon1 c.G430A p.E144K 0.148562 0.1617 0.124173 0.1397 0.1913 0.01 T 0.996 P -1.100 T 0.538 P 0.228 P Pathogenic 17_38938591_C->G 17 38938591 38938591 C G snp 4426.77 1/1 99 158 0 158 1.0 exonic rs2469826 KRT27 AU nonsynonymous SNV NM_181537 exon1 c.G155C p.S52T 0.308107 0.2361 0.295095 0.2806 0.2408 0.32 T 0.141 P -1.066 T 0.325 T 0.15 T Pathogenic 17_38950239_C->T 17 38950239 38950239 C T snp 1650.77 0/1 99 136 68 68 0.5 exonic rs2270153 KRT28 AU synonymous SNV NM_181535 exon6 c.G1038A p.A346A 0.0980431 0.1687 0.043980 0.0569 0.1861 Uncertain 17_38950251_A->G 17 38950251 38950251 A G snp 1747.77 0/1 99 144 72 72 0.5 exonic rs2270154 KRT28 AU synonymous SNV NM_181535 exon6 c.T1026C p.C342C 0.0980431 0.1687 0.044057 0.0569 0.1860 Uncertain 17_38950272_T->C 17 38950272 38950272 T C snp 1680.77 0/1 99 147 70 77 0.52 exonic rs2250671 KRT28 AU synonymous SNV NM_181535 exon6 c.A1005G p.T335T 0.618411 0.4196 0.646240 0.5807 0.3927 Uncertain 17_38953540_A->G 17 38953540 38953540 A G snp 2713.77 0/1 99 250 138 112 0.45 intronic rs3813038 KRT28 AU NM_181535 exon5 c.4855+7A>G 0.698283 0.4702 0.743657 0.6621 0.4502 Uncertain 17_38954687_C->T 17 38954687 38954687 C T snp 649.77 0/1 99 67 36 31 0.46 intronic rs9914044 KRT28 AU NM_181535 exon6 c.5965+44C>T 0.743501 0.6603 0.4418 Uncertain 17_38955337_G->A 17 38955337 38955337 G A snp 150.77 0/1 99 14 8 6 0.43 intronic rs72824010 KRT28 AU NM_181535 exon7 c.6573+86G>A 0.0640974 0.1925 Uncertain 17_38955961_G->A 17 38955961 38955961 G A snp 2706.77 0/1 99 224 115 109 0.49 exonic rs4624233 KRT28 AU nonsynonymous SNV NM_181535 exon1 c.C185T p.A62V 0.292532 0.4077 0.220898 0.2203 0.3769 0.5 T 0.0 P -0.994 T 0.0 T 0.005 T Pathogenic 17_38975252_CCGCCGCCGGAGCTT->- 17 38975252 38975266 CCGCCGCCGGAGCTT - indel 953.73 0/1 99 19 8 11 0.58 exonic rs570853437 KRT10 AD nonframeshift deletion NM_000421 exon7 c.1521_1535del p.507_512del 0.0255591 0.0893 0.0350 0.15 Uncertain 17_38975328_G->A 17 38975328 38975328 G A snp 850.77 0/1 99 62 25 37 0.6 exonic rs17855579 KRT10 AD nonsynonymous SNV NM_000421 exon7 c.C1459T p.H487Y 0.697085 0.4653 0.7110 0.4574 0.05 T 0.0 P -0.955 T 0.0 T 0.0 T CLINSIG=non-pathogenic;CLNDBN=not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000126523.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Pathogenic 17_38976998_G->A 17 38976998 38976998 G A snp 552.77 0/1 99 48 25 23 0.48 intronic rs1799873 KRT10 AD NM_000421 exon6 c.2192+79G>A 0.696685 0.4643 Uncertain 17_38978536_A->C 17 38978536 38978536 A C snp 3097.77 1/1 99 109 0 109 1.0 exonic rs4261597 KRT10 AD nonsynonymous SNV NM_000421 exon1 c.T302G p.I101S 0.999201 1 0.998308 0.9988 1 0.52 T 1.0 P -0.959 T 0.0 T 0.0 T Pathogenic 17_38990834_G->C 17 38990834 38990834 G C snp 1248.77 0/1 99 99 47 52 0.53 exonic rs2240078 TMEM99 AU synonymous SNV NM_001195386 exon3 c.G66C p.V22V 0.901558 0.8056 0.966878 0.9263 0.7926 Uncertain 17_38991003_T->C 17 38991003 38991003 T C snp 2521.77 0/1 99 250 148 102 0.41 exonic rs10558 TMEM99 AU nonsynonymous SNV NM_001195386 exon3 c.T235C p.Y79H 0.33746 0.4077 0.246147 0.2191 0.3768 0 D 0.0 P -0.926 T 0.138 T 0.03 T Pathogenic 17_38991032_T->A 17 38991032 38991032 T A snp 2633.77 0/1 99 250 139 111 0.44 exonic rs6694 TMEM99 AU synonymous SNV NM_001195386 exon3 c.T264A p.G88G 0.583067 0.4494 0.622632 0.5719 0.4275 Uncertain 17_39023396_G->A 17 39023396 39023396 G A snp 1602.77 0/1 99 122 58 64 0.52 exonic rs11650915 KRT12 AD nonsynonymous SNV NM_000223 exon1 c.C43T p.P15S 0.309505 0.5407 0.271259 0.3560 0.5623 1 T 0.0 P -0.958 T 0.0 T 0.0 T CLINSIG=untested;CLNDBN=not_provided;CLNREVSTAT=no_assertion_provided;CLNACC=RCV000056428.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Pathogenic 17_39032768_A->T 17 39032768 39032768 A T snp 760.77 0/1 99 45 17 28 0.62 intronic KRT20 AU NM_019010 exon1 c.98+58A>T 0.353634 0.5417 Uncertain 17_39033467_T->C 17 39033467 39033467 T C snp 160.77 0/1 99 14 6 8 0.57 intronic KRT20 AU NM_019010 exon2 c.1019-164T>C 0.241214 0.4345 Uncertain 17_39039025_G->A 17 39039025 39039025 G A snp 96.28 1/1 9 3 0 3 1.0 intronic KRT20 AU NM_019010 exon7 c.6294+119G>A 0.615216 0.9762 Uncertain 17_39081546_A->G 17 39081546 39081546 A G snp 50.74 1/1 6 2 0 2 1.0 intronic KRT23 AU NM_001282433 exon3 c.2365-59A>G 0.449081 0.5903 Uncertain 17_39081713_A->G 17 39081713 39081713 A G snp 1501.77 1/1 72 60 1 59 0.98 exonic KRT23 AU synonymous SNV NM_001282433 exon6 c.T624C p.H208H 0.570887 0.7083 0.441027 0.4813 0.7130 Uncertain 17_39084504_T->C 17 39084504 39084504 T C snp 2401.77 1/1 99 72 0 72 1.0 exonic KRT23 AU nonsynonymous SNV NM_001282433 exon5 c.A496G p.T166A 0.583267 0.7083 0.450023 0.4850 0.7131 0.85 T 0.000 P -0.970 T 0.0 T 0.0 T Pathogenic 17_39092868_G->A 17 39092868 39092868 G A snp 1034.77 1/1 75 38 0 38 1.0 UTR5 KRT23 AU 0.322484 0.4246 0.238295 0.3023 0.4597 Uncertain 17_39122564_A->T 17 39122564 39122564 A T snp 486.77 0/1 99 31 14 17 0.55 intronic KRT39 AU NM_213656 exon7 c.7788-76A>T 0.214257 0.252 Uncertain 17_39134590_G->C 17 39134590 39134590 G C snp 2212.77 0/1 99 207 110 97 0.47 intronic KRT40 AU NM_182497 exon1 c.100+42G>C 0.699081 0.5863 0.628463 0.5969 0.6015 Uncertain 17_39134659_C->T 17 39134659 39134659 C T snp 1456.77 0/1 99 115 59 56 0.49 intronic KRT40 AU NM_182497 exon1 c.100+111C>T 0.216054 0.251 Uncertain 17_39135205_A->G 17 39135205 39135205 A G snp 849.77 0/1 99 87 49 38 0.44 exonic KRT40 AU synonymous SNV NM_182497 exon8 c.T1047C p.C349C 0.699081 0.5863 0.635776 0.5992 0.6023 Uncertain 17_39135207_A->G 17 39135207 39135207 A G snp 885.77 0/1 99 88 48 40 0.45 exonic KRT40 AU nonsynonymous SNV NM_182497 exon8 c.T1045C p.C349R 0.216054 0.251 0.176339 0.2432 0.2433 0.36 T 0.999 P -1.107 T 0.009 T 0.02 T Pathogenic 17_39137297_C->T 17 39137297 39137297 C T snp 2574.77 0/1 99 209 109 100 0.48 exonic KRT40 AU nonsynonymous SNV NM_182497 exon6 c.G794A p.C265Y 0.69389 0.5843 0.626578 0.5977 0.6002 1 T 0.021 P -0.919 T 0.0 T 0.0 T Pathogenic 17_39139256_A->T 17 39139256 39139256 A T snp 189.77 0/1 99 12 4 8 0.67 intronic KRT40 AU NM_182497 exon6 c.4849-41A>T 0.694089 0.5853 0.618179 0.6058 0.6098 Uncertain 17_39150167_G->A 17 39150167 39150167 G A snp 1299.77 0/1 99 109 51 58 0.53 exonic KRTAP3-3 AU synonymous SNV NM_033185 exon1 c.C183T p.C61C 0.241613 0.3234 0.226797 0.2861 0.3192 Uncertain 17_39150284_A->G 17 39150284 39150284 A G snp 2300.77 0/1 99 249 147 102 0.41 exonic KRTAP3-3 AU synonymous SNV NM_033185 exon1 c.T66C p.S22S 0.47504 0.5 0.368057 0.3587 0.5115 Uncertain 17_39150357_A->G 17 39150357 39150357 A G snp 1506.77 0/1 99 187 114 73 0.39 UTR5 KRTAP3-3 AU 0.53774 0.5278 0.429297 0.4286 0.5419 Uncertain 17_39150443_G->A 17 39150443 39150443 G A snp 447.77 0/1 99 42 26 16 0.38 upstream KRTAP3-3 AU 0.634784 0.5823 Uncertain 17_39156027_G->A 17 39156027 39156027 G A snp 2663.77 0/1 99 250 141 109 0.44 exonic KRTAP3-2 AU nonsynonymous SNV NM_031959 exon1 c.C79T p.R27C 0.174121 0.2629 0.129712 0.1853 0.2487 0 D 0.999 P -1.096 T 1.0 D 0.998 D Pathogenic 17_39156224_C->G 17 39156224 39156224 C G snp 408.77 0/1 99 33 20 13 0.39 upstream KRTAP3-2 AU 0.603634 0.5813 Uncertain 17_39186031_C->T 17 39186031 39186031 C T snp 164.77 0/1 99 30 22 8 0.27 exonic KRTAP1-4 AU synonymous SNV NM_001257305 exon1 c.G300A p.P100P 0.341454 0.3085 0.3075 0.2997 Uncertain 17_39186168_A->C 17 39186168 39186168 A C snp 338.77 0/1 99 30 15 15 0.5 exonic KRTAP1-4 AU nonsynonymous SNV NM_001257305 exon1 c.T163G p.S55A 0.447883 0.4692 0.3275 0.4210 0.7 T -0.942 T Pathogenic 17_39186220_G->A 17 39186220 39186220 G A snp 411.77 0/1 99 42 24 18 0.43 exonic KRTAP1-4 AU synonymous SNV NM_001257305 exon1 c.C111T p.T37T 0.352037 0.3065 0.3019 0.2919 Uncertain 17_39186382_G->A 17 39186382 39186382 G A snp 554.77 0/1 99 48 20 28 0.58 upstream KRTAP1-4 AU 0.341054 0.3065 Uncertain 17_39190758_T->C 17 39190758 39190758 T C snp 864.77 0/1 99 58 23 35 0.6 exonic KRTAP1-3 AU nonsynonymous SNV NM_030966 exon1 c.A316G p.I106V 0.147670 0.1987 0.2643 0.19 T 0.0 P -0.973 T 0.178 T 0.105 T Pathogenic 17_39190953_G->C 17 39190953 39190953 G C snp 366.77 0/1 99 115 88 27 0.23 exonic KRTAP1-3 AU nonsynonymous SNV NM_030966 exon1 c.C121G p.Q41E 1 T 0.968 N -1.079 T 0.884 T 0.587 P Pathogenic 17_39190954_G->A 17 39190954 39190954 G A snp 345.77 0/1 99 116 88 28 0.24 exonic KRTAP1-3 AU synonymous SNV NM_030966 exon1 c.C120T p.C40C Uncertain 17_39197176_G->A 17 39197176 39197176 G A snp 623.77 0/1 99 62 33 29 0.47 exonic KRTAP1-1 AU synonymous SNV NM_030967 exon1 c.C474T p.Y158Y 0.222045 0.2817 0.160488 0.1995 0.2650 Uncertain 17_39197499_G->A 17 39197499 39197499 G A snp 1960.77 0/1 99 185 99 86 0.46 exonic KRTAP1-1 AU stopgain NM_030967 exon1 c.C151T p.Q51X 0.163323 0.1957 0.2663 0.88 T 1.000 P Pathogenic 17_39197760_C->T 17 39197760 39197760 C T snp 1063.77 0/1 99 69 34 35 0.51 upstream KRTAP1-1 AU 0.222045 0.2817 Uncertain 17_39197849_A->G 17 39197849 39197849 A G snp 42.77 0/1 31 3 1 2 0.67 upstream KRTAP1-1 AU 0.366613 0.4454 Uncertain 17_39261933_C->A 17 39261933 39261933 C A snp 1157.77 0/1 99 107 56 51 0.48 exonic KRTAP4-9 AU nonsynonymous SNV NM_001146041 exon1 c.C293A p.A98E 3.467e-05 0.0005 0.09 T 1 N -1.035 T 0.004 T 0.002 T Pathogenic 17_39324229_-->GCAGCAGGTGGTCAG 17 39324229 39324229 - GCAGCAGGTGGTCAG indel 2666.73 0/1 99 32 13 19 0.59 exonic rs747800907 KRTAP4-3 AU nonframeshift insertion NM_033187 exon1 c.195_196insCTGACCACCTGCTGC p.R66delinsLTTCCR 0.132381 ID=COSM1383099;OCCURENCE=11(large_intestine) Uncertain 17_39333956_T->C 17 39333956 39333956 T C snp 392.77 1/1 30 12 0 12 1.0 UTR3 rs377518 KRTAP4-2 AU 0.952077 0.9484 0.930662 0.9388 0.9422 Uncertain 17_39334133_T->C 17 39334133 39334133 T C snp 1258.77 1/1 93 43 0 43 1.0 exonic rs389784 KRTAP4-2 AU nonsynonymous SNV NM_033062 exon1 c.A284G p.Y95C 0.952077 0.9484 0.929506 0.9399 0.9421 1 T 0.060 P -0.981 T 0.001 T 0.0 T Pathogenic 17_39334456_G->A 17 39334456 39334456 G A snp 3448.77 1/1 99 117 0 117 1.0 UTR5 rs493514 KRTAP4-2 AU 0.952077 0.9484 0.930002 0.9387 0.9424 Uncertain 17_39340597_G->A 17 39340597 39340597 G A snp 2826.77 1/1 99 94 0 94 1.0 UTR3 rs452216 KRTAP4-1 AU 0.945288 0.9484 Uncertain 17_39340707_C->T 17 39340707 39340707 C T snp 4205.77 1/1 99 157 0 157 1.0 exonic rs398825 KRTAP4-1 AU nonsynonymous SNV NM_033060 exon2 c.G343A p.A115T 0.952077 0.9484 0.929803 0.9396 0.9425 0.16 T 0.0 P -1.049 T 0.0 T 0.0 T Pathogenic 17_39340812_T->C 17 39340812 39340812 T C snp 1623.77 1/1 99 52 0 52 1.0 intronic rs483929 KRTAP4-1 AU NM_033060 exon1 c.139+8T>C 0.952077 0.9484 0.7944 0.8009 0.6 T 0.0 P -1.010 T Uncertain 17_39340826_T->C 17 39340826 39340826 T C snp 1324.77 1/1 99 47 0 47 1.0 intronic rs483893 KRTAP4-1 AU NM_033060 exon1 c.139+22T>C 0.951278 0.9474 0.7760 0.7985 1 T 0.000 P -1.018 T Uncertain 17_39340843_G->A 17 39340843 39340843 G A snp 1410.77 1/1 99 53 0 53 1.0 intronic rs2320229 KRTAP4-1 AU NM_033060 exon2 c.196-18G>A 0.923323 0.8978 0.1067 0.0357 Uncertain 17_39340848_G->C 17 39340848 39340848 G C snp 298.77 0/1 99 53 36 17 0.32 intronic rs79048996 KRTAP4-1 AU NM_033060 exon2 c.196-13G>C 0.0598 0.0175 0.84 T 1 N -0.940 T Uncertain 17_39340852_G->A 17 39340852 39340852 G A snp 916.77 0/1 99 51 15 36 0.71 intronic rs2320230 KRTAP4-1 AU NM_033060 exon2 c.196-9G>A 0.583267 0.5536 Uncertain 17_39340910_T->C 17 39340910 39340910 T C snp 1868.77 1/1 99 67 0 67 1.0 exonic rs2320231 KRTAP4-1 AU nonsynonymous SNV NM_033060 exon1 c.A197G p.H66R 0.952077 0.9484 0.929586 0.9466 0.9486 0.57 T 0.000 P -1.000 T 0.0 T 0.0 T Pathogenic 17_39341158_G->A 17 39341158 39341158 G A snp 2676.77 1/1 99 95 0 95 1.0 upstream rs452531 KRTAP4-1 AU 0.952077 0.9484 0.933485 0.9411 0.9438 Uncertain 17_39341266_A->G 17 39341266 39341266 A G snp 911.77 1/1 66 29 0 29 1.0 upstream rs449817 KRTAP4-1 AU 0.952077 0.9484 0.9487 0.9444 Uncertain 17_39341294_T->A 17 39341294 39341294 T A snp 500.77 1/1 39 13 0 13 1.0 upstream rs385122 KRTAP4-1 AU 0.952077 0.9484 Uncertain 17_39346518_T->C 17 39346518 39346518 T C snp 7282.77 1/1 99 248 0 248 1.0 exonic rs238824 KRTAP9-1 AU nonsynonymous SNV NM_001190460 exon1 c.T380C p.I127T 0.955671 0.9484 0.9422 0.9442 0.66 T 0.0 P -1.036 T Pathogenic 17_39346595_-->GCTGTGGGTCCAGCTGCTGCCAGCCTA 17 39346595 39346595 - GCTGTGGGTCCAGCTGCTGCCAGCCTA indel 39479.7 1/1 99 216 0 216 1.0 exonic rs11283848 KRTAP9-1 AU nonframeshift insertion NM_001190460 exon1 c.457_458insGCTGTGGGTCCAGCTGCTGCCAGCCTA p.C153delinsCCGSSCCQPS 0.907149 0.8512 0.9308 0.9267 Uncertain 17_39388852_T->C 17 39388852 39388852 T C snp 88.28 1/1 9 3 0 3 1.0 exonic KRTAP9-3 AU synonymous SNV NM_031962 exon1 c.T99C p.C33C 0.958866 0.9504 0.934336 0.9446 0.9543 Uncertain 17_39406409_C->A 17 39406409 39406409 C A snp 1201.77 0/1 99 149 96 53 0.36 exonic KRTAP9-4 AU nonsynonymous SNV NM_033191 exon1 c.C437A p.S146Y 0.675919 0.631 0.655082 0.7369 0.6528 0.17 T 0.0 P -1.137 T 0.339 T 0.093 T Pathogenic 17_39406447_A->G 17 39406447 39406447 A G snp 948.77 0/1 99 128 81 47 0.37 UTR3 KRTAP9-4 AU 0.623403 0.5516 0.5323 0.4618 Uncertain 17_39406567_C->A 17 39406567 39406567 C A snp 108.77 0/1 99 8 4 4 0.5 UTR3 KRTAP9-4 AU 0.720048 0.631 Uncertain 17_39406589_A->G 17 39406589 39406589 A G snp 52.74 1/1 6 2 0 2 1.0 UTR3 KRTAP9-4 AU 0.955272 0.9504 Uncertain 17_39432562_A->T 17 39432562 39432562 A T snp 599.77 0/1 99 49 22 27 0.55 downstream KRTAP9-7 AU 0.674321 0.63 Uncertain 17_39458476_A->T 17 39458476 39458476 A T snp 2589.77 0/1 99 207 99 108 0.52 exonic KRTAP29-1 AU nonsynonymous SNV NM_001257309 exon1 c.T628A p.C210S 0.23143 0.3204 0.1743 0.3094 0.14 T -1.061 T Pathogenic 17_39458574_GTACAGATGGTTG->- 17 39458574 39458586 GTACAGATGGTTG - indel 7518.73 0/1 99 162 99 63 0.39 exonic KRTAP29-1 AU frameshift deletion NM_001257309 exon1 c.518_530del p.P173fs 0.158347 0.3194 0.1610 0.2938 ID=COSM1610224;OCCURENCE=1(liver) Pathogenic 17_39458765_A->G 17 39458765 39458765 A G snp 1644.77 0/1 99 158 92 66 0.42 exonic KRTAP29-1 AU synonymous SNV NM_001257309 exon1 c.T339C p.S113S 0.678315 0.629 0.7661 0.6565 Uncertain 17_39458893_G->A 17 39458893 39458893 G A snp 2501.77 0/1 99 200 107 93 0.47 exonic KRTAP29-1 AU nonsynonymous SNV NM_001257309 exon1 c.C211T p.R71C 0.232428 0.3204 0.1753 0.3053 1 T -0.965 T Pathogenic 17_39459167_G->A 17 39459167 39459167 G A snp 280.77 0/1 99 21 12 9 0.43 upstream KRTAP29-1 AU 0.678315 0.629 Uncertain 17_39464046_G->C 17 39464046 39464046 G C snp 845.77 0/1 99 69 35 34 0.49 exonic KRTAP16-1 AU nonsynonymous SNV NM_001146182 exon1 c.C1460G p.A487G 0.320887 0.371 0.2412 0.3482 0.28 T 0.0 P -1.156 T Pathogenic 17_39464487_G->C 17 39464487 39464487 G C snp 1915.77 0/1 99 158 74 84 0.53 exonic KRTAP16-1 AU nonsynonymous SNV NM_001146182 exon1 c.C1019G p.P340R 0.379193 0.3968 0.2818 0.3755 0.56 T 0.0 P -1.119 T Pathogenic 17_39464736_C->G 17 39464736 39464736 C G snp 2405.77 0/1 99 211 113 98 0.46 exonic KRTAP16-1 AU nonsynonymous SNV NM_001146182 exon1 c.G770C p.S257T 0.320487 0.371 0.2389 0.3510 0.37 T 0.000 P -1.031 T Pathogenic 17_39465094_C->T 17 39465094 39465094 C T snp 3540.77 0/1 99 250 124 126 0.5 exonic KRTAP16-1 AU nonsynonymous SNV NM_001146182 exon1 c.G412A p.V138I 0.230232 0.3204 0.1740 0.3069 0.17 T 0.0 P -0.871 T Pathogenic 17_39465389_T->A 17 39465389 39465389 T A snp 2171.77 0/1 99 177 91 86 0.49 exonic KRTAP16-1 AU synonymous SNV NM_001146182 exon1 c.A117T p.T39T 0.230232 0.3204 0.1825 0.3053 Uncertain 17_39471753_GCCCCCGCAGCCAGA->- 17 39471753 39471767 GCCCCCGCAGCCAGA - indel 4482.73 0/1 99 76 38 38 0.5 exonic KRTAP17-1 AU nonframeshift deletion NM_031964 exon1 c.136_150del p.46_50del 0.232428 0.3185 0.210118 0.2042 0.3435 ID=COSM1479556;OCCURENCE=2(breast) Uncertain 17_39471778_C->T 17 39471778 39471778 C T snp 908.77 0/1 99 86 45 41 0.48 exonic KRTAP17-1 AU nonsynonymous SNV NM_031964 exon1 c.G125A p.G42D 0.187899 0.3165 0.1916 0.3380 0 D 0.001 P -1.042 T 0.015 T 0.018 T Pathogenic 17_39471929_G->A 17 39471929 39471929 G A snp 1115.77 0/1 99 111 57 54 0.49 UTR5 KRTAP17-1 AU 0.188299 0.3175 0.158055 0.1753 0.3067 Uncertain 17_39471972_T->G 17 39471972 39471972 T G snp 903.77 0/1 99 75 40 35 0.47 upstream KRTAP17-1 AU 0.188299 0.3175 Uncertain 17_39472018_G->A 17 39472018 39472018 G A snp 301.77 0/1 99 33 22 11 0.33 upstream KRTAP17-1 AU 0.188498 0.3175 Uncertain 17_39506659_G->A 17 39506659 39506659 G A snp 1567.77 0/1 99 148 81 67 0.45 intronic KRT33A AU NM_004138 exon7 c.4301-12G>A 0.159744 0.3204 0.140089 0.1629 0.3057 Uncertain 17_39507115_T->C 17 39507115 39507115 T C snp 98.77 0/1 99 35 28 7 0.2 upstream KRT33A AU 0.175519 0.2103 Uncertain 17_39520001_C->T 17 39520001 39520001 C T snp 317.77 0/1 99 17 5 12 0.71 UTR3 KRT33B AU 0.01877 0.0804 Uncertain 17_39535859_A->G 17 39535859 39535859 A G snp 2870.77 0/1 99 227 111 116 0.51 exonic KRT34 AU nonsynonymous SNV NM_021013 exon4 c.T839C p.I280T 0.744609 0.5873 0.739582 0.6983 0.6055 1 T 0.000 P -0.978 T 0.0 T 0.0 T Pathogenic 17_39551676_G->A 17 39551676 39551676 G A snp 1232.77 0/1 99 117 59 58 0.5 intronic KRT31 AU NM_002277 exon4 c.1446-37G>A 0.00159744 0.004 0.000231 0.0016 0.0034 Uncertain 17_39553811_G->T 17 39553811 39553811 G T snp 596.77 0/1 99 45 16 29 0.64 UTR5 KRT31 AU 0.331869 0.3988 0.336862 0.3261 0.4306 Uncertain 17_39578424_G->T 17 39578424 39578424 G T snp 3259.77 0/1 99 250 125 125 0.5 exonic KRT37 AU nonsynonymous SNV NM_003770 exon5 c.C917A p.A306D 0.172524 0.3224 0.135707 0.1636 0.3043 0.06 T 0.000 P -1.044 T 0.007 T 0.015 T Pathogenic 17_39579010_C->T 17 39579010 39579010 C T snp 143.77 0/1 99 14 8 6 0.43 intronic KRT37 AU NM_003770 exon5 c.1900-19C>T 0.164137 0.3075 0.005478 0.0016 0.0005 Uncertain 17_39579016_A->G 17 39579016 39579016 A G snp 137.77 0/1 99 19 13 6 0.32 intronic KRT37 AU NM_003770 exon5 c.1900-13A>G 0.161142 0.3075 3.699e-05 0.0004 Uncertain 17_39579017_G->C 17 39579017 39579017 G C snp 170.77 0/1 99 20 13 7 0.35 intronic KRT37 AU NM_003770 exon5 c.1900-12G>C 0.161142 0.3075 6.227e-05 0.0005 Uncertain 17_39579059_G->A 17 39579059 39579059 G A snp 953.77 0/1 99 69 33 36 0.52 exonic KRT37 AU stopgain NM_003770 exon3 c.C703T p.Q235X 0.172125 0.3214 0.1619 0.3007 0 D 1.000 P Pathogenic 17_39579112_G->A 17 39579112 39579112 G A snp 1924.77 0/1 99 159 76 83 0.52 exonic KRT37 AU nonsynonymous SNV NM_003770 exon3 c.C650T p.A217V 0.173323 0.3224 0.136629 0.1638 0.3047 0.01 T 0.000 P -1.055 T 0.003 T 0.003 T Pathogenic 17_39580130_G->A 17 39580130 39580130 G A snp 3710.77 0/1 99 250 110 140 0.56 intronic KRT37 AU NM_003770 exon6 c.2967+34G>A 0.172324 0.3224 0.135860 0.1634 0.3043 Uncertain 17_39580559_T->A 17 39580559 39580559 T A snp 1623.77 0/1 99 174 98 76 0.44 exonic KRT37 AU nonsynonymous SNV NM_003770 exon1 c.A217T p.S73C 0.391374 0.4067 0.396894 0.4372 0.4007 1 T 0.000 P -0.927 T 0.0 T 0.0 T Pathogenic 17_39580562_T->C 17 39580562 39580562 T C snp 1630.77 0/1 99 171 96 75 0.44 exonic KRT37 AU nonsynonymous SNV NM_003770 exon1 c.A214G p.T72A 0.391374 0.4067 0.396740 0.4373 0.4005 0.08 T 0.001 P -0.978 T 0.019 T 0.004 T Pathogenic 17_39580660_T->C 17 39580660 39580660 T C snp 1262.77 0/1 99 91 38 53 0.58 exonic KRT37 AU nonsynonymous SNV NM_003770 exon1 c.A116G p.N39S 0.391374 0.4067 0.396202 0.4381 0.4019 0.69 T 0.0 P -0.977 T 0.0 T 0.0 T Pathogenic 17_39580816_G->C 17 39580816 39580816 G C snp 235.77 0/1 60 13 3 10 0.77 UTR5 KRT37 AU 0.172324 0.3224 0.133626 0.1614 0.3041 Uncertain 17_39593768_A->G 17 39593768 39593768 A G snp 341.78 1/1 27 10 0 10 1.0 exonic rs897416 KRT38 AU nonsynonymous SNV NM_006771 exon7 c.T1267C p.S423P 0.933706 0.999 0.912733 0.9134 0.9996 0.55 T 0.0 P -1.006 T 0.0 T 0.0 T Pathogenic 17_39594935_C->- 17 39594935 39594935 C - indel 7988.73 1/1 99 250 0 250 1.0 intronic rs398030861 KRT38 AU NM_006771 exon4 c.1285-13delC 0.596645 0.8462 0.6041 0.8287 Uncertain 17_39595661_T->A 17 39595661 39595661 T A snp 3320.77 1/1 99 122 0 122 1.0 intronic rs2071611 KRT38 AU NM_006771 exon5 c.1948+50T>A 0.595847 0.8452 0.520068 0.6051 0.8289 Uncertain 17_39596393_C->A 17 39596393 39596393 C A snp 1103.77 0/1 99 98 51 47 0.48 intronic rs12601328 KRT38 AU NM_006771 exon6 c.2749-19C>A 0.423522 0.5238 0.384130 0.4439 0.5287 Uncertain 17_39596402_G->A 17 39596402 39596402 G A snp 2885.77 1/1 99 101 0 101 1.0 intronic rs2071610 KRT38 AU NM_006771 exon6 c.2749-10G>A 0.596046 0.8452 0.520452 0.6045 0.8296 Uncertain 17_39596538_C->T 17 39596538 39596538 C T snp 2540.77 0/1 99 200 101 99 0.49 intronic rs2071609 KRT38 AU NM_006771 exon6 c.2832+43C>T 0.423522 0.5238 0.384054 0.4393 0.5277 Uncertain 17_39596611_T->C 17 39596611 39596611 T C snp 7453.77 1/1 99 250 0 250 1.0 intronic rs1350046 KRT38 AU NM_006771 exon7 c.3018-70T>C 0.866414 0.9802 Uncertain 17_39616430_G->T 17 39616430 39616430 G T snp 900.77 0/1 99 87 48 39 0.45 exonic rs2604953 KRT32 AU nonsynonymous SNV NM_002278 exon7 c.C1279A p.P427T 0.819489 0.7748 0.888556 0.8829 0.7793 0.22 T 0.0 P -0.986 T 0.295 T 0.055 T Pathogenic 17_39619193_C->T 17 39619193 39619193 C T snp 1128.77 0/1 99 99 51 48 0.48 exonic rs11078993 KRT32 AU nonsynonymous SNV NM_002278 exon6 c.G1106A p.R369Q 0.119209 0.2073 0.052899 0.1005 0.2222 0 D 0.983 P -1.057 T 1.0 D 1.0 D Pathogenic 17_39620565_C->T 17 39620565 39620565 C T snp 2577.77 0/1 99 224 118 106 0.47 exonic rs72830046 KRT32 AU nonsynonymous SNV NM_002278 exon4 c.G839A p.R280H 0.179513 0.1141 0.228125 0.2576 0.1227 0.05 T 0.000 P -0.978 T 0.205 T 0.179 T Pathogenic 17_39622068_G->T 17 39622068 39622068 G T snp 1593.77 1/1 99 47 1 46 0.98 exonic rs2071561 KRT32 AU nonsynonymous SNV NM_002278 exon3 c.C665A p.S222Y 0.499601 0.6369 0.427187 0.5120 0.6348 0 D 0.732 P -1.064 T 0.983 D 0.977 D Pathogenic 17_39623363_T->C 17 39623363 39623363 T C snp 2372.77 1/1 99 88 0 88 1.0 exonic rs3744786 KRT32 AU nonsynonymous SNV NM_002278 exon1 c.A215G p.Q72R 0.325479 0.3413 0.281947 0.3502 0.3574 0.37 T 0.0 P -1.025 T 0.0 T 0.0 T Pathogenic 17_39623622_A->C 17 39623622 39623622 A C snp 2558.77 1/1 99 95 0 95 1.0 UTR5 rs1807434 KRT32 AU 0.325479 0.3413 0.257502 0.3581 0.3649 Uncertain 17_39623708_C->T 17 39623708 39623708 C T snp 574.77 1/1 45 16 0 16 1.0 upstream rs737487 KRT32 AU 0.325479 0.3413 Uncertain 17_39633317_A->G 17 39633317 39633317 A G snp 915.77 1/1 66 35 0 35 1.0 exonic rs2239711 KRT35 AU synonymous SNV NM_002280 exon7 c.T1359C p.G453G 0.73103 0.6419 0.724155 0.7288 0.6388 Uncertain 17_39633349_G->C 17 39633349 39633349 G C snp 1219.77 1/1 87 48 0 48 1.0 exonic rs2071601 KRT35 AU nonsynonymous SNV NM_002280 exon7 c.C1327G p.P443A 0.548323 0.3462 0.567760 0.5675 0.3590 0.08 T 0.979 P -0.897 T 0.038 T 0.022 T Pathogenic 17_39634576_T->G 17 39634576 39634576 T G snp 492.77 1/1 39 13 0 13 1.0 intronic rs7220061 KRT35 AU NM_002280 exon4 c.1305-36T>G 0.575879 0.3403 0.596648 0.5820 0.3631 Uncertain 17_39634625_A->G 17 39634625 39634625 A G snp 1738.77 1/1 99 46 0 46 1.0 exonic rs7216017 KRT35 AU synonymous SNV NM_002280 exon5 c.T987C p.A329A 0.576078 0.3403 0.598109 0.5784 0.3633 Uncertain 17_39636044_G->A 17 39636044 39636044 G A snp 2036.77 1/1 99 80 0 80 1.0 intronic rs2011243 KRT35 AU NM_002280 exon7 c.2726+11G>A 0.949081 0.9494 0.922822 0.9300 0.9542 Uncertain 17_39637244_A->G 17 39637244 39637244 A G snp 2252.77 1/1 99 86 1 85 0.99 exonic rs743686 KRT35 AU nonsynonymous SNV NM_002280 exon1 c.T106C p.S36P 0.574481 0.3333 0.600466 0.5732 0.3535 0.07 T 0.468 P -0.853 T 0.999 D 0.933 D Pathogenic 17_39643646_G->A 17 39643646 39643646 G A snp 1746.77 1/1 99 53 0 53 1.0 exonic rs2301354 KRT36 AU nonsynonymous SNV NM_003771 exon5 c.C944T p.T315M 0.484425 0.3323 0.501768 0.5506 0.3511 0.01 T 0.000 P -0.929 T 0.818 T 0.36 P Pathogenic 17_39644057_G->A 17 39644057 39644057 G A snp 1655.77 1/1 99 47 0 47 1.0 intronic rs2301353 KRT36 AU NM_003771 exon4 c.1362+68G>A 0.766973 0.7361 Uncertain 17_39645003_C->G 17 39645003 39645003 C G snp 1034.77 0/1 99 79 33 46 0.58 intronic rs60125824 KRT36 AU NM_003771 exon6 c.2349+27C>G 0.116214 0.2083 0.044364 0.1006 0.2195 Uncertain 17_39646021_A->G 17 39646021 39646021 A G snp 3582.77 1/1 99 138 0 138 1.0 exonic rs1003842 KRT36 AU synonymous SNV NM_003771 exon1 c.T96C p.R32R 0.767572 0.7361 0.731124 0.7519 0.7472 Uncertain 17_39659183_G->A 17 39659183 39659183 G A snp 6036.77 1/1 99 215 1 214 1.0 splicing rs4796698 KRT13 AD NM_002274 exon4 c.1593-5G>A 0.79992 0.9692 0.807550 0.9060 0.9668 Pathogenic 17_39659194_T->C 17 39659194 39659194 T C snp 6041.77 1/1 99 208 0 208 1.0 exonic rs4796697 KRT13 AD nonsynonymous SNV NM_002274 exon4 c.A892G p.T298A 0.903954 0.999 0.915039 0.9685 0.9993 0.28 T 0.0 P -0.964 T 0.008 T 0.034 T Pathogenic 17_39659529_T->C 17 39659529 39659529 T C snp 2521.77 1/1 99 90 0 90 1.0 intronic rs7211835 KRT13 AD NM_002274 exon5 c.1943-9T>C 0.821086 0.9702 0.833461 0.9139 0.9673 Uncertain 17_39659913_G->A 17 39659913 39659913 G A snp 519.77 1/1 39 18 0 18 1.0 exonic rs9891361 KRT13 AD nonsynonymous SNV NM_002274 exon2 c.C560T p.A187V 0.705272 0.9048 0.695141 0.8509 0.9152 0.02 T 1.000 P -0.915 T 0.99 D 0.811 D Pathogenic 17_39661689_G->A 17 39661689 39661689 G A snp 2404.77 1/1 99 89 0 89 1.0 exonic rs8182306 KRT13 AD synonymous SNV NM_002274 exon1 c.C114T p.S38S 0.855032 0.9712 0.867523 0.9248 0.9676 Uncertain 17_39670912_G->C 17 39670912 39670912 G C snp 2115.77 1/1 99 72 0 72 1.0 exonic rs897420 KRT15 AU nonsynonymous SNV NM_002275 exon7 c.C1262G p.A421G 0.972843 1 0.972090 0.9915 1 0.17 T 0.000 P -0.971 T 0.001 T 0.001 T Pathogenic 17_39671045_T->C 17 39671045 39671045 T C snp 1834.77 1/1 99 65 0 65 1.0 intronic rs897421 KRT15 AU NM_002275 exon2 c.652+119T>C 0.985224 1 Uncertain 17_39674407_G->A 17 39674407 39674407 G A snp 427.77 1/1 33 11 0 11 1.0 intronic rs9303311 KRT15 AU NM_002275 exon8 c.4307-174G>A 0.732628 0.9147 Uncertain 17_39674641_T->C 17 39674641 39674641 T C snp 4733.77 1/1 99 171 0 171 1.0 exonic rs1050784 KRT15 AU nonsynonymous SNV NM_002275 exon1 c.A439G p.T147A 0.732827 0.9147 0.620329 0.6864 0.9192 0.52 T 0.000 P -0.995 T 0.001 T 0.006 T Pathogenic 17_39680580_A->C 17 39680580 39680580 A C snp 5935.77 1/1 99 222 1 221 1.0 intronic rs1869719 KRT19 AU NM_002276 exon3 c.636-50A>C 0.967053 1 0.969014 0.9908 1 Uncertain 17_39680796_T->A 17 39680796 39680796 T A snp 3681.77 1/1 99 127 0 127 1.0 splicing rs1869720 KRT19 AU NM_002276 exon3 c.798+4T>A 0.967053 1 0.969091 0.9909 1 Pathogenic 17_39680935_A->G 17 39680935 39680935 A G snp 182.9 1/1 15 5 0 5 1.0 intronic rs4796780 KRT19 AU NM_002276 exon3 c.798+143A>G 0.732029 0.9137 Uncertain 17_39681475_A->G 17 39681475 39681475 A G snp 1121.77 1/1 81 37 0 37 1.0 exonic rs4601 KRT19 AU synonymous SNV NM_002276 exon2 c.T471C p.N157N 0.731829 0.9137 0.620098 0.6857 0.9192 CLINSIG=untested;CLNDBN=not_provided;CLNREVSTAT=no_assertion_provided;CLNACC=RCV000056946.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Uncertain 17_39684321_G->C 17 39684321 39684321 G C snp 1656.77 1/1 99 63 0 63 1.0 exonic rs4602 KRT19 AU nonsynonymous SNV NM_002276 exon1 c.C179G p.A60G 0.748003 0.9187 0.631921 0.6944 0.9215 0.58 T 0.000 P -0.958 T 0.0 T 0.0 T CLINSIG=untested;CLNDBN=not_provided;CLNREVSTAT=no_assertion_provided;CLNACC=RCV000056945.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Pathogenic 17_39684410_G->A 17 39684410 39684410 G A snp 1300.77 1/1 93 50 0 50 1.0 exonic rs11550883 KRT19 AU synonymous SNV NM_002276 exon1 c.C90T p.A30A 0.684105 0.9177 0.586036 0.6890 0.9197 CLINSIG=untested;CLNDBN=not_provided;CLNREVSTAT=no_assertion_provided;CLNACC=RCV000056950.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Uncertain 17_39723451_A->G 17 39723451 39723451 A G snp 347.78 1/1 27 9 0 9 1.0 intronic rs6503636 KRT9 AD 0.665735 0.9444 Uncertain 17_39723990_T->A 17 39723990 39723990 T A snp 1616.77 1/1 99 65 0 65 1.0 exonic rs3890472 KRT9 AD synonymous SNV NM_000226 exon7 c.A1407T p.G469G 0.647364 0.9444 0.498924 0.6241 0.9445 Uncertain 17_39724047_T->C 17 39724047 39724047 T C snp 1226.77 1/1 87 45 0 45 1.0 intronic rs1008753 KRT9 AD NM_000226 exon2 c.478+45T>C 0.666134 0.9444 0.522321 0.6314 0.9449 Uncertain 17_39726276_C->A 17 39726276 39726276 C A snp 3025.77 1/1 99 94 1 93 0.99 intronic rs3816510 KRT9 AD NM_000226 exon6 c.2743+9C>A 0.663139 0.9444 0.516992 0.6289 0.9442 Uncertain 17_39727816_T->G 17 39727816 39727816 T G snp 1937.77 1/1 99 64 0 64 1.0 exonic rs8075921 KRT9 AD synonymous SNV NM_000226 exon1 c.A429C p.G143G 0.501615 0.6325 0.9448 CLINSIG=untested;CLNDBN=not_provided;CLNREVSTAT=no_assertion_provided;CLNACC=RCV000056452.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Uncertain 17_39728050_G->A 17 39728050 39728050 G A snp 2829.77 1/1 99 118 0 118 1.0 exonic rs8070680 KRT9 AD synonymous SNV NM_000226 exon1 c.C195T p.G65G 0.78095 1 0.640166 0.7292 0.9990 Uncertain 17_39740321_C->T 17 39740321 39740321 C T snp 212.77 0/1 99 17 9 8 0.47 intronic rs28391845 KRT14 AR,AD NM_000526 exon5 c.1487+148C>T Uncertain 17_39740323_T->C 17 39740323 39740323 T C snp 169.77 0/1 99 11 5 6 0.55 intronic rs2320456 KRT14 AR,AD NM_000526 exon5 c.1487+150T>C Uncertain 17_39742718_A->G 17 39742718 39742718 A G snp 383.77 1/1 30 12 0 12 1.0 exonic rs3826549 KRT14 AR,AD synonymous SNV NM_000526 exon1 c.T369C p.N123N 0.680511 0.9425 0.6375 0.9478 CLINSIG=untested,untested;CLNDBN=not_provided,not_provided;CLNREVSTAT=no_assertion_provided,no_assertion_provided;CLNACC=RCV000056715.1,RCV000056714.1;CLNDSDB=MedGen,MedGen;CLNDSDBID=CN221809,CN221809 Uncertain 17_39742894_G->A 17 39742894 39742894 G A snp 308.78 1/1 24 13 0 13 1.0 exonic rs3826551 KRT14 AR,AD synonymous SNV NM_000526 exon1 c.C193T p.L65L 0.680711 0.9425 0.517910 0.5977 0.9410 CLINSIG=untested;CLNDBN=not_provided;CLNREVSTAT=no_assertion_provided;CLNACC=RCV000056698.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Uncertain 17_39742898_G->A 17 39742898 39742898 G A snp 303.78 1/1 24 12 0 12 1.0 exonic rs11551758 KRT14 AR,AD synonymous SNV NM_000526 exon1 c.C189T p.C63C 0.680711 0.9425 0.5911 0.9403 CLINSIG=untested;CLNDBN=not_provided;CLNREVSTAT=no_assertion_provided;CLNACC=RCV000056697.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Uncertain 17_39742899_C->T 17 39742899 39742899 C T snp 344.78 1/1 27 12 0 12 1.0 exonic rs6503640 KRT14 AR,AD nonsynonymous SNV NM_000526 exon1 c.G188A p.C63Y 0.992612 0.998 0.9971 0.9989 0.11 T 0.0 P -1.013 T 0.0 T 0.0 T CLINSIG=untested;CLNDBN=not_provided;CLNREVSTAT=no_assertion_provided;CLNACC=RCV000056696.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Pathogenic 17_39766504_A->G 17 39766504 39766504 A G snp 1599.77 1/1 99 66 0 66 1.0 intronic rs7406899 KRT16 AD NM_005557 exon2 c.302+16A>G 0.98742 1 0.966626 0.9679 1 Uncertain 17_39767744_A->G 17 39767744 39767744 A G snp 1300.77 1/1 93 43 0 43 1.0 exonic rs4796681 KRT16 AD synonymous SNV NM_005557 exon3 c.T624C p.H208H 0.774161 1 0.628325 0.6833 0.9986 Uncertain 17_39767836_G->A 17 39767836 39767836 G A snp 135.03 1/1 12 6 0 6 1.0 intronic rs2100509 KRT16 AD NM_005557 exon7 c.1704-54G>A 0.718051 0.9296 0.566360 Uncertain 17_39871700_G->A 17 39871700 39871700 G A snp 3296.77 1/1 99 131 0 131 1.0 exonic GAST AU synonymous SNV NM_000805 exon2 c.G12A p.L4L 0.847045 0.9028 0.840612 0.8516 0.8882 Uncertain 17_39872023_T->A 17 39872023 39872023 T A snp 2640.77 0/1 99 216 98 118 0.55 intronic GAST AU NM_000805 exon3 c.341-6T>A 0.000599042 0.003 0.000231 0.0010 0.0025 Uncertain 17_39872024_C->A 17 39872024 39872024 C A snp 2628.77 0/1 99 216 98 118 0.55 splicing GAST AU NM_000805 exon3 c.341-5C>A 0.000599042 0.003 0.000154 0.0010 0.0025 Pathogenic 17_39874075_C->A 17 39874075 39874075 C A snp 2285.77 1/1 99 82 0 82 1.0 intergenic GAST AU 0.839457 0.8978 Uncertain 17_39874137_G->A 17 39874137 39874137 G A snp 3868.77 1/1 99 143 1 142 0.99 intergenic GAST AU 0.839657 0.8978 Uncertain 17_39874267_T->A 17 39874267 39874267 T A snp 2100.77 1/1 99 77 1 76 0.99 intergenic GAST AU 0.839856 0.8988 0.8806 0.9095 0 D 0.000 P -1.009 T Uncertain 17_39874283_T->A 17 39874283 39874283 T A snp 1641.77 1/1 84 54 1 53 0.98 intergenic GAST AU 0.839856 0.8988 0.8802 0.9095 Uncertain 17_39881289_G->C 17 39881289 39881289 G C snp 7132.77 1/1 99 249 0 249 1.0 exonic HAP1 AU nonsynonymous SNV NM_177977 exon11 c.C1524G p.F508L 0.896565 0.8968 0.893972 0.8668 0.8834 1 T 0.0 P -0.960 T 0.0 T 0.0 T Pathogenic 17_39881487_T->C 17 39881487 39881487 T C snp 311.78 1/1 24 10 0 10 1.0 intronic HAP1 AU NM_001079871 exon1 c.454+81T>C 0.896166 0.8968 Uncertain 17_39883350_G->A 17 39883350 39883350 G A snp 2622.77 1/1 99 93 0 93 1.0 exonic HAP1 AU nonsynonymous SNV NM_177977 exon9 c.C1322T p.T441M 0.198882 0.249 0.160695 0.3240 0.3080 0.3 T 0.0 P -0.902 T 0.44 T 0.037 T ID=CM088454;DIS=Huntington disease, delayed age-at-onset;TAG=DFP;PUB=18192679 DFP Pathogenic 17_39883559_G->A 17 39883559 39883559 G A snp 2374.77 1/1 99 84 0 84 1.0 intronic HAP1 AU NM_001079871 exon3 c.2444+163G>A 0.461462 0.6736 0.324850 0.4414 0.6576 Uncertain 17_39883595_T->C 17 39883595 39883595 T C snp 1835.77 1/1 99 64 0 64 1.0 intronic HAP1 AU NM_001079871 exon3 c.2444+199T>C 0.734026 0.7421 0.692834 0.6948 0.7349 Uncertain 17_39883789_A->G 17 39883789 39883789 A G snp 54.74 1/1 6 2 0 2 1.0 intronic HAP1 AU NM_177977 exon4 c.3061-224A>G 0.891773 0.9067 Uncertain 17_39883972_C->T 17 39883972 39883972 C T snp 1513.77 1/1 99 41 0 41 1.0 intronic HAP1 AU NM_177977 exon4 c.3061-41C>T 0.868211 0.9028 0.822258 0.8175 0.8954 Uncertain 17_39884091_G->C 17 39884091 39884091 G C snp 7184.77 1/1 99 250 0 250 1.0 splicing HAP1 AU NM_177977 exon4 c.3136+3G>C 0.834065 0.9048 0.777641 0.7914 0.8956 Pathogenic 17_39884246_G->A 17 39884246 39884246 G A snp 2806.77 1/1 99 80 0 80 1.0 intronic HAP1 AU NM_177977 exon4 c.3136+158G>A 0.894569 0.9038 Uncertain 17_39884419_C->T 17 39884419 39884419 C T snp 5900.77 1/1 99 210 0 210 1.0 intronic HAP1 AU NM_001079871 exon4 c.3500-33C>T 0.809505 0.9028 0.754076 0.7980 0.8957 Uncertain 17_39884583_G->A 17 39884583 39884583 G A snp 4231.77 1/1 99 150 0 150 1.0 exonic HAP1 AU nonsynonymous SNV NM_177977 exon7 c.C1070T p.S357L 0.773163 0.9018 0.716592 0.7759 0.8957 0.5 T 0.098 P -0.982 T 0.992 D 0.709 D Pathogenic 17_39884684_C->T 17 39884684 39884684 C T snp 800.77 1/1 60 23 0 23 1.0 intronic HAP1 AU NM_001079871 exon4 c.3631+101C>T 0.773363 0.9018 Uncertain 17_39888102_A->G 17 39888102 39888102 A G snp 309.78 1/1 24 8 0 8 1.0 intronic HAP1 AU NM_001079871 exon7 c.7236-86A>G 0.870008 0.9028 Uncertain 17_39888455_G->C 17 39888455 39888455 G C snp 5292.77 1/1 99 196 1 195 0.99 intronic HAP1 AU NM_001079871 exon8 c.7529-26G>C 0.867812 0.8929 0.823620 0.8177 0.8819 Uncertain 17_39890715_A->T 17 39890715 39890715 A T snp 2760.77 1/1 99 100 1 99 0.99 exonic HAP1 AU nonsynonymous SNV NM_177977 exon1 c.T172A p.S58T 0.769968 0.8998 0.721837 0.7927 0.8938 0.48 T 0.0 P -1.003 T 0.859 T 0.451 P Pathogenic 17_39890876_T->C 17 39890876 39890876 T C snp 966.77 1/1 72 34 0 34 1.0 exonic HAP1 AU nonsynonymous SNV NM_177977 exon1 c.A11G p.K4R 0.547125 0.7073 0.392430 0.5886 0.7282 0.73 T 0.0 P -1.014 T 0.004 T 0.007 T Pathogenic 17_39912145_T->A 17 39912145 39912145 T A snp 1913.77 1/1 99 72 0 72 1.0 exonic rs1126821 JUP AR,AD nonsynonymous SNV NM_002230 exon14 c.A2089T p.M697L 0.58726 0.3452 0.696986 0.6592 0.3439 0.73 T 1.000 P -0.959 T 0.0 T 0.0 T CLINSIG=non-pathogenic|non-pathogenic|non-pathogenic;CLNDBN=Naxos_disease|not_specified|not_provided;CLNREVSTAT=no_assertion_criteria_provided|criteria_provided\x2c_multiple_submitters\x2c_no_conflicts|criteria_provided\x2c_single_submitter;CLNACC=RCV000020467.1|RCV000039075.3|RCV000126389.1;CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet|MedGen|MedGen;CLNDSDBID=NBK1131:C1832600:601214:ORPHA34217|CN169374|CN221809 ID=CM150228;DIS=Arrhythmogenic right ventricular cardiomyopathy;TAG=DM?;PUB=25445213 DM? Pathogenic 17_39912259_-->C 17 39912259 39912259 - C indel 299.74 1/1 27 10 0 10 1.0 intronic rs141010071 JUP AR,AD NM_021991 exon2 c.152+112insC 0.678914 0.3452 Uncertain 17_39912581_A->G 17 39912581 39912581 A G snp 453.77 1/1 33 18 0 18 1.0 intronic JUP AR,AD NM_021991 exon3 c.471+115A>G 0.636581 0.3452 Uncertain 17_39913645_T->C 17 39913645 39913645 T C snp 4627.77 1/1 99 173 0 173 1.0 intronic JUP AR,AD NM_021991 exon4 c.1671-21T>C 0.717252 0.5099 0.793557 0.7100 0.5053 Uncertain 17_39914070_G->T 17 39914070 39914070 G T snp 418.77 1/1 33 13 0 13 1.0 intronic JUP AR,AD NM_021991 exon5 c.2041+34G>T 0.638978 0.4653 0.734664 0.6784 0.4611 Uncertain 17_39923614_A->G 17 39923614 39923614 A G snp 1662.77 1/1 99 61 0 61 1.0 intronic JUP AR,AD NM_021991 exon11 c.11635-16A>G 0.744209 0.5119 0.834307 0.7638 0.5023 Uncertain 17_39925925_A->G 17 39925925 39925925 A G snp 2314.77 1/1 99 77 0 77 1.0 exonic JUP AR,AD synonymous SNV NM_002230 exon3 c.T213C p.D71D 0.715655 0.5238 0.795556 0.7364 0.5325 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000039076.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 17_39959189_C->G 17 39959189 39959189 C G snp 2710.77 1/1 99 105 0 105 1.0 UTR3 P3H4 AU 0.911142 1 0.876134 0.9022 0.9999 Uncertain 17_39959511_C->T 17 39959511 39959511 C T snp 877.77 0/1 99 49 18 31 0.63 intronic P3H4 AU NM_006455 exon2 c.330-27C>T 0.490615 0.4306 0.532985 0.5399 0.4661 Uncertain 17_39966168_T->G 17 39966168 39966168 T G snp 624.77 0/1 99 54 30 24 0.44 intronic P3H4 AU NM_006455 exon5 c.6878+82T>G 0.385383 0.4544 Uncertain 17_39967087_C->G 17 39967087 39967087 C G snp 387.77 0/1 99 158 130 28 0.18 intronic P3H4 AU NM_006455 exon6 c.7906-27C>G Uncertain 17_39967442_T->C 17 39967442 39967442 T C snp 1375.77 0/1 99 121 67 54 0.45 exonic P3H4 AU nonsynonymous SNV NM_006455 exon2 c.A557G p.Q186R 0.369209 0.4544 0.319314 0.3741 0.4575 0.72 T 0.000 P -0.919 T 0.0 T 0.0 T Pathogenic 17_39977862_C->T 17 39977862 39977862 C T snp 600.77 1/1 45 16 0 16 1.0 intronic FKBP10 AR NM_021939 exon9 c.8619-43C>T 0.91853 1 0.892280 0.9192 0.9999 Uncertain 17_39983644_A->C 17 39983644 39983644 A C snp 311.78 1/1 24 9 0 9 1.0 intronic NT5C3B AU NM_052935 exon2 c.1903-33A>C 0.786142 0.8323 0.760572 0.7770 0.8294 Uncertain 17_39983808_G->C 17 39983808 39983808 G C snp 3479.77 1/1 99 128 0 128 1.0 exonic NT5C3B AU nonsynonymous SNV NM_052935 exon8 c.C638G p.S213C 0.786142 0.8323 0.760572 0.7770 0.8302 0.16 T 1.000 P -0.902 T 0.991 D 0.852 D Pathogenic 17_39983820_G->A 17 39983820 39983820 G A snp 3454.77 1/1 99 133 2 131 0.98 exonic NT5C3B AU nonsynonymous SNV NM_052935 exon8 c.C626T p.A209V 0.786142 0.8323 0.760572 0.7770 0.8298 1 T 0.000 P -0.934 T 0.001 T 0.001 T Pathogenic 17_39983849_G->C 17 39983849 39983849 G C snp 3499.77 1/1 99 137 0 137 1.0 exonic NT5C3B AU synonymous SNV NM_052935 exon8 c.C597G p.L199L 0.701877 0.8323 0.675457 0.7531 0.8289 Uncertain 17_39987130_T->C 17 39987130 39987130 T C snp 5008.77 1/1 99 186 1 185 0.99 exonic NT5C3B AU synonymous SNV NM_052935 exon6 c.A327G p.A109A 0.917332 1 0.889128 0.9179 0.9999 Uncertain 17_39988601_C->T 17 39988601 39988601 C T snp 1165.77 1/1 84 40 0 40 1.0 intronic NT5C3B AU NM_052935 exon5 c.6869-42C>T 0.699081 0.8323 0.674919 0.7509 0.8285 Uncertain 17_39991790_C->T 17 39991790 39991790 C T snp 1766.77 1/1 99 65 0 65 1.0 intronic rs1319763 NT5C3B AU NM_052935 exon7 c.9750+266C>T 0.783946 0.8323 Uncertain 17_39991867_-->TATC 17 39991867 39991867 - TATC indel 5869.73 1/1 99 79 0 79 1.0 intronic rs3039772 NT5C3B AU NM_052935 exon8 c.10336-243insTATC 0.783946 0.8323 0.8032 0.8243 Uncertain 17_39991988_G->A 17 39991988 39991988 G A snp 1492.77 1/1 99 50 0 50 1.0 intronic rs1865841 NT5C3B AU NM_052935 exon8 c.10336-122G>A 0.784145 0.8323 Uncertain 17_39998141_C->T 17 39998141 39998141 C T snp 3877.77 1/1 99 141 0 141 1.0 exonic rs1529933 KLHL10 AD synonymous SNV NM_152467 exon2 c.C261T p.P87P 0.778155 0.8323 0.760321 0.7827 0.8242 Uncertain 17_40003421_C->T 17 40003421 40003421 C T snp 359.78 1/1 27 13 0 13 1.0 intronic rs4796721 KLHL10 AD NM_152467 exon4 c.9328-91C>T 0.716254 0.8323 Uncertain 17_40010979_G->A 17 40010979 40010979 G A snp 6818.77 1/1 99 242 0 242 1.0 exonic KLHL11 AU synonymous SNV NM_018143 exon2 c.C1140T p.Y380Y 0.778554 0.8313 0.755113 0.7823 0.8240 Uncertain 17_40024023_A->T 17 40024023 40024023 A T snp 1364.77 1/1 99 49 0 49 1.0 UTR3 rs7217218 ACLY AU 0.923522 1 0.898278 0.9278 0.9999 Uncertain 17_40024869_G->- 17 40024869 40024869 G - indel 203.77 1/1 21 7 0 7 1.0 intronic rs57604811 ACLY AU NM_001096 exon2 c.899-92delG 0.773962 0.8323 Uncertain 17_40024895_A->G 17 40024895 40024895 A G snp 1133.77 1/1 84 34 0 34 1.0 intronic rs8079008 ACLY AU NM_001096 exon2 c.899-66A>G 0.923522 1 Uncertain 17_40025264_G->T 17 40025264 40025264 G T snp 5305.77 1/1 99 198 0 198 1.0 intronic rs9912300 ACLY AU NM_001096 exon3 c.1233-31G>T 0.777356 0.8313 0.754113 0.7819 0.8235 Uncertain 17_40025285_A->G 17 40025285 40025285 A G snp 6210.77 1/1 99 234 0 234 1.0 intronic rs9914829 ACLY AU NM_001096 exon3 c.1233-10A>G 0.923522 1 0.898278 0.9280 0.9999 Uncertain 17_40025453_T->C 17 40025453 40025453 T C snp 1992.77 1/1 99 56 0 56 1.0 intronic rs3744779 ACLY AU NM_001096 exon3 c.1316+75T>C 0.778954 0.8313 Uncertain 17_40025670_G->A 17 40025670 40025670 G A snp 477.77 1/1 36 16 0 16 1.0 intronic rs3744780 ACLY AU NM_001096 exon4 c.1664-56G>A 0.778954 0.8313 Uncertain 17_40027869_A->T 17 40027869 40027869 A T snp 670.77 1/1 51 21 0 21 1.0 intronic rs1808787 ACLY AU NM_001096 exon5 c.3879-72A>T 0.777556 0.8313 Uncertain 17_40028450_A->T 17 40028450 40028450 A T snp 5703.77 1/1 99 219 0 219 1.0 intronic rs8071627 ACLY AU NM_001096 exon6 c.4373+15A>T 0.777356 0.8313 0.754729 0.7819 0.8230 Uncertain 17_40028541_A->G 17 40028541 40028541 A G snp 1950.77 1/1 99 53 0 53 1.0 intronic rs8071753 ACLY AU NM_001096 exon6 c.4373+106A>G 0.779153 0.8313 Uncertain 17_40028568_C->G 17 40028568 40028568 C G snp 971.77 1/1 72 28 0 28 1.0 intronic rs8071234 ACLY AU NM_001096 exon6 c.4373+133C>G 0.777356 0.8313 Uncertain 17_40048613_A->G 17 40048613 40048613 A G snp 2728.77 1/1 99 102 0 102 1.0 exonic rs8065502 ACLY AU synonymous SNV NM_001096 exon16 c.T1689C p.H563H 0.904353 1 0.875211 0.9216 0.9999 Uncertain 17_40049171_G->A 17 40049171 40049171 G A snp 426.77 1/1 33 14 0 14 1.0 intronic rs4796735 ACLY AU NM_001096 exon15 c.25223-114G>A 0.904153 1 Uncertain 17_40049473_A->G 17 40049473 40049473 A G snp 1571.77 1/1 75 60 1 59 0.98 intronic rs4796736 ACLY AU NM_001096 exon15 c.25365+46A>G 0.904353 1 0.875288 0.9203 0.9999 Uncertain 17_40053021_T->C 17 40053021 40053021 T C snp 516.77 1/1 39 14 0 14 1.0 intronic rs11652326 ACLY AU NM_001096 exon16 c.28840+119T>C 0.904553 1 Uncertain 17_40058204_C->A 17 40058204 40058204 C A snp 1620.77 1/1 99 54 0 54 1.0 intronic rs3816121 ACLY AU NM_001096 exon19 c.34004+138C>A 0.701278 0.8313 Uncertain 17_40058212_G->A 17 40058212 40058212 G A snp 1203.77 1/1 87 41 1 40 0.98 intronic rs3816122 ACLY AU NM_001096 exon19 c.34004+146G>A 0.74361 0.8313 Uncertain 17_40060850_G->A 17 40060850 40060850 G A snp 50.74 1/1 6 2 0 2 1.0 intronic rs9916650 ACLY AU NM_001096 exon20 c.36919-131G>A 0.744409 0.8313 Uncertain 17_40063083_A->C 17 40063083 40063083 A C snp 56.74 1/1 6 2 0 2 1.0 intronic rs11079024 ACLY AU NM_001096 exon22 c.38837+184A>C 0.862021 1 Uncertain 17_40068613_G->A 17 40068613 40068613 G A snp 875.77 1/1 66 23 0 23 1.0 intronic rs2304499 ACLY AU NM_001096 exon27 c.44610-59G>A 0.747404 0.8313 Uncertain 17_40105401_-->ATG 17 40105401 40105401 - ATG indel 7533.73 1/1 99 131 0 131 1.0 intronic rs60375891 TTC25 AU NM_031421 exon9 c.20256-1831insATG 0.691294 0.8343 Uncertain 17_40106869_A->- 17 40106869 40106869 A - indel 99.73 0/1 99 22 9 13 0.59 intronic TTC25 AU NM_031421 exon9 c.20256-363delA Uncertain 17_40118807_C->T 17 40118807 40118807 C T snp 139.03 1/1 12 4 0 4 1.0 UTR5 CNP AU 0.688698 0.8363 Uncertain 17_40123829_G->A 17 40123829 40123829 G A snp 2750.77 1/1 99 80 1 79 0.99 intronic CNP AU NM_033133 exon3 c.5007-80G>A 0.688498 0.8343 Uncertain 17_40125864_G->A 17 40125864 40125864 G A snp 1104.77 0/1 99 124 74 50 0.4 exonic CNP AU synonymous SNV NM_033133 exon4 c.G1188A p.G396G 0.27516 0.4157 0.248434 0.3091 0.4103 Uncertain 17_40139766_G->A 17 40139766 40139766 G A snp 261.77 0/1 99 14 6 8 0.57 intronic DNAJC7 AU NM_003315 exon6 c.11086-70G>A 0.0373403 0.1488 Uncertain 17_40146970_G->A 17 40146970 40146970 G A snp 4615.77 1/1 99 153 0 153 1.0 intronic DNAJC7 AU NM_003315 exon10 c.18212+8G>A 0.738419 0.876 0.748093 0.8279 0.8636 Uncertain 17_40152432_T->- 17 40152432 40152432 T - indel 386.74 1/1 30 10 0 10 1.0 intronic DNAJC7 AU NM_003315 exon13 c.23749-67delT 1 1 Uncertain 17_40169519_G->T 17 40169519 40169519 G T snp 1987.77 1/1 99 59 0 59 1.0 UTR5 DNAJC7 AU 0.76238 0.876 Uncertain 17_40173851_A->C 17 40173851 40173851 A C snp 5001.77 1/1 99 194 0 194 1.0 intronic NKIRAS2 AU NM_001144928 exon2 c.94+162A>C 0.785543 0.872 0.785141 0.8302 0.8631 Uncertain 17_40186128_C->A 17 40186128 40186128 C A snp 436.77 1/1 33 12 0 12 1.0 intronic ZNF385C AU NM_001242704 exon6 c.7328-114C>A 0.943291 0.8581 Uncertain 17_40215180_A->G 17 40215180 40215180 A G snp 908.77 1/1 66 31 0 31 1.0 intergenic ZNF385C AU 0.86262 0.8512 Uncertain 17_40314213_A->C 17 40314213 40314213 A C snp 1699.77 0/1 99 124 54 70 0.56 intronic rs60075634 KCNH4 AU NM_012285 exon3 c.2208-52A>C 0.219649 0.3948 0.135786 Uncertain 17_40314498_A->G 17 40314498 40314498 A G snp 197.8 0/1 21 7 1 6 0.86 intronic rs61160591 KCNH4 AU NM_012285 exon3 c.2282+159A>G 0.16853 0.3492 Uncertain 17_40318296_A->G 17 40318296 40318296 A G snp 1066.77 0/1 99 81 41 40 0.49 intronic rs28459794 KCNH4 AU NM_012285 exon8 c.6257-18A>G 0.267173 0.4038 0.187375 0.2681 0.4943 Uncertain 17_40318734_A->G 17 40318734 40318734 A G snp 101.77 0/1 99 9 5 4 0.44 intronic rs9912576 KCNH4 AU NM_012285 exon8 c.6507+170A>G 0.267572 0.4058 Uncertain 17_40322252_T->C 17 40322252 40322252 T C snp 3178.77 0/1 99 249 123 126 0.51 exonic rs939881 KCNH4 AU synonymous SNV NM_012285 exon8 c.A1263G p.S421S 0.169529 0.3522 0.082500 0.1393 0.3676 Uncertain 17_40344442_G->A 17 40344442 40344442 G A snp 2532.77 0/1 99 250 145 105 0.42 exonic rs190646764 GHDC AU nonsynonymous SNV NM_001142623 exon5 c.C706T p.R236W 0.000599042 0.003 6.777e-05 0.0005 0.19 T 0.939 D -0.597 T 1.0 D 1.0 D Pathogenic 17_40359506_CACA->- 17 40359506 40359509 CACA - indel 1238.73 ./1 99 37 2 35 0.95 intronic rs377476267 STAT5B AU NM_012448 exon4 c.5820-69_5820-66delCACA Uncertain 17_40359506_CA->- 17 40359506 40359507 CA - indel 1238.73 ./1 99 37 2 35 0.95 intronic rs397837160 STAT5B AU NM_012448 exon4 c.5820-69_5820-68delCA Uncertain 17_40481529_G->C 17 40481529 40481529 G C snp 1652.77 0/1 99 117 40 77 0.66 intronic rs2293152 STAT3 AD NM_003150 exon12 c.13809-42G>C 0.653754 0.5198 0.687913 0.6025 0.5190 Uncertain 17_40490559_G->T 17 40490559 40490559 G T snp 361.77 1/1 30 10 0 10 1.0 intronic rs62075768 STAT3 AD NM_003150 exon19 c.22986-189G>T Uncertain 17_40574520_G->C 17 40574520 40574520 G C snp 258.8 1/1 21 7 0 7 1.0 intronic rs7222739 PTRF AR NM_012232 exon2 c.17940-124G>C 0.84365 0.9841 Uncertain 17_40619937_A->G 17 40619937 40619937 A G snp 417.77 1/1 33 14 0 14 1.0 intronic rs4796668 ATP6V0A1 AU NM_001130020 exon4 c.7115-90A>G 0.999201 1 Uncertain 17_40639422_G->A 17 40639422 40639422 G A snp 167.9 1/1 15 5 0 5 1.0 intronic rs8069972 ATP6V0A1 AU NM_001130020 exon10 c.26473+37G>A 0.337061 0.5516 0.306705 0.3780 0.5724 Uncertain 17_40642452_T->C 17 40642452 40642452 T C snp 4194.77 1/1 99 142 0 142 1.0 intronic rs9899168 ATP6V0A1 AU NM_001130020 exon11 c.29592-52T>C 0.954473 1 Uncertain 17_40659408_A->T 17 40659408 40659408 A T snp 62.77 0/1 91 9 6 3 0.33 intronic rs16967806 ATP6V0A1 AU NM_001130020 exon18 c.46625-129A>T 0.0161741 0.0446 Uncertain 17_40659743_T->G 17 40659743 40659743 T G snp 458.77 0/1 99 34 18 16 0.47 intronic rs2239970 ATP6V0A1 AU NM_001130020 exon18 c.46733+98T>G 0.104034 0.1835 Uncertain 17_40689455_T->C 17 40689455 40689455 T C snp 4508.77 1/1 99 179 0 179 1.0 exonic rs659497 NAGLU AR,AD synonymous SNV NM_000263 exon2 c.T423C p.S141S 0.997604 1 0.994772 0.9947 1 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000078458.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 17_40689613_G->C 17 40689613 40689613 G C snp 143.77 0/1 99 18 12 6 0.33 intronic rs2071046 NAGLU AR,AD NM_000263 exon2 c.1273+50G>C 0.720048 0.7212 0.745422 0.7325 0.7336 Uncertain 17_40696233_C->G 17 40696233 40696233 C G snp 3586.77 1/1 99 132 0 132 1.0 exonic rs86312 NAGLU AR,AD nonsynonymous SNV NM_000263 exon6 c.C2209G p.R737G 0.859225 0.999 0.848839 0.9055 0.9984 0.21 T 0.006 P -0.902 T 0.678 T 0.128 P CLINSIG=non-pathogenic,non-pathogenic;CLNDBN=not_specified,not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter,criteria_provided\x2c_single_submitter;CLNACC=RCV000078456.3,RCV000078457.3;CLNDSDB=MedGen,MedGen;CLNDSDBID=CN169374,CN169374 Pathogenic 17_40699291_G->A 17 40699291 40699291 G A snp 5569.77 1/1 99 197 0 197 1.0 intergenic rs607740 NAGLU AR,AD 0.936102 0.999 0.9475 0.9987 1 T 1.000 P -0.922 T Uncertain 17_40699332_T->C 17 40699332 40699332 T C snp 5693.77 1/1 99 209 0 209 1.0 intergenic rs607795 NAGLU AR,AD 0.947684 0.999 0.9497 0.9989 Uncertain 17_40699475_-->C 17 40699475 40699475 - C indel 1812.73 1/1 99 55 0 55 1.0 intergenic rs398100513 NAGLU AR,AD 0.947484 0.999 0.9482 0.9988 Uncertain 17_40700448_C->G 17 40700448 40700448 C G snp 1820.77 1/1 99 52 0 52 1.0 intergenic rs2854973 NAGLU AR,AD 0.932708 0.999 Uncertain 17_40705100_C->T 17 40705100 40705100 C T snp 1923.77 0/1 99 149 73 76 0.51 intronic rs597255 HSD17B1 AU NM_000413 exon2 c.190-41C>T 0.573482 0.4534 0.579656 0.5577 0.4363 Uncertain 17_40706906_G->A 17 40706906 40706906 G A snp 1069.77 0/1 99 74 29 45 0.61 exonic rs605059 HSD17B1 AU nonsynonymous SNV NM_000413 exon6 c.G937A p.G313S 0.522564 0.4534 0.593025 0.6371 0.5285 0.53 T 0.0 P -0.889 T 0.002 T 0.0 T ID=CM057951;DIS=Endometriosis, association with;TAG=DP;PUB=15640252 DP Pathogenic 17_40714804_C->A 17 40714804 40714804 C A snp 1964.77 0/1 99 128 55 73 0.57 exonic rs615942 COASY AR nonsynonymous SNV NM_025233 exon1 c.C164A p.S55Y 0.506989 0.4524 0.505001 0.5390 0.4387 0.01 T 1.0 P -0.903 T 0.944 T 0.66 D Pathogenic 17_40716235_C->T 17 40716235 40716235 C T snp 1214.77 0/1 99 144 86 58 0.4 intronic rs668799 COASY AR NM_025233 exon2 c.1553+42C>T 0.316494 0.4355 0.240992 0.3328 0.4617 Uncertain 17_40716520_A->G 17 40716520 40716520 A G snp 2523.77 0/1 99 187 92 95 0.51 exonic rs598126 COASY AR synonymous SNV NM_025233 exon3 c.A972G p.T324T 0.504593 0.4534 0.501615 0.5361 0.4394 Uncertain 17_40720605_G->A 17 40720605 40720605 G A snp 960.77 0/1 99 79 39 40 0.51 intronic rs646174 MLX AU NM_198204 exon3 c.1435+28G>A 0.523562 0.4534 0.525142 0.5439 0.4406 Uncertain 17_40720632_G->A 17 40720632 40720632 G A snp 810.77 0/1 99 63 32 31 0.49 intronic rs646123 MLX AU NM_198204 exon3 c.1435+55G>A 0.319289 0.4355 0.258432 Uncertain 17_40721360_C->A 17 40721360 40721360 C A snp 2137.77 0/1 99 164 77 87 0.53 intronic rs632758 MLX AU NM_198205 exon4 c.2179+39C>A 0.585463 0.4534 0.590804 0.5622 0.4418 Uncertain 17_40722029_A->G 17 40722029 40722029 A G snp 927.77 0/1 99 84 44 40 0.48 exonic rs665268 MLX AU nonsynonymous SNV NM_198205 exon6 c.A416G p.Q139R 0.321486 0.4355 0.248116 0.2903 0.4224 0.35 T 1.000 P -1.047 T 1.0 D 0.982 D Pathogenic 17_40723391_C->T 17 40723391 40723391 C T snp 387.77 0/1 99 22 9 13 0.59 intronic rs2010750 MLX AU NM_198205 exon7 c.4422-173C>T 0.357228 0.5258 Uncertain 17_40725379_A->T 17 40725379 40725379 A T snp 1382.77 0/1 99 165 104 61 0.37 exonic rs2292754 PSMC3IP AR nonsynonymous SNV NM_016556 exon6 c.T487A p.Y163N 0.0898562 0.1855 0.036752 0.0379 0.1649 0.53 T 1.000 P -1.063 T 0.028 T 0.029 T Pathogenic 17_40725656_G->C 17 40725656 40725656 G C snp 1499.77 0/1 99 105 44 61 0.58 intronic rs2292752 PSMC3IP AR NM_016556 exon4 c.656+15G>C 0.585264 0.4534 0.589958 0.5617 0.4424 Uncertain 17_40725742_A->G 17 40725742 40725742 A G snp 209.77 0/1 99 26 16 10 0.38 intronic rs75716493 PSMC3IP AR NM_016556 exon4 c.656+101A>G 0.0115815 0.0258 Uncertain 17_40735469_T->G 17 40735469 40735469 T G snp 912.77 0/1 99 96 54 42 0.44 intronic rs1517002 FAM134C AU NM_178126 exon3 c.1685-46T>G 0.530351 0.4692 0.530601 0.5477 0.4580 Uncertain 17_40735641_C->T 17 40735641 40735641 C T snp 740.77 0/1 99 51 21 30 0.59 intronic rs10454087 FAM134C AU NM_178126 exon3 c.1768+43C>T 0.324481 0.4514 0.247809 0.2924 0.4416 Uncertain 17_40737043_G->C 17 40737043 40737043 G C snp 1128.77 0/1 99 71 30 41 0.58 intronic rs9889580 FAM134C AU NM_178126 exon4 c.3312-99G>C 0.590855 0.4692 Uncertain 17_40737117_G->A 17 40737117 40737117 G A snp 2556.77 0/1 99 236 129 107 0.45 intronic rs4792992 FAM134C AU NM_178126 exon4 c.3312-25G>A 0.35643 0.5298 0.334538 0.3833 0.5421 Uncertain 17_40738610_T->C 17 40738610 40738610 T C snp 40.77 0/1 69 5 3 2 0.4 intronic rs55985470 FAM134C AU NM_178126 exon6 c.4952-172T>C 0.33107 0.5298 Uncertain 17_40744320_A->G 17 40744320 40744320 A G snp 427.77 0/1 99 34 16 18 0.53 intronic rs4793253 FAM134C AU NM_178126 exon8 c.10350+140A>G 0.357029 0.5317 Uncertain 17_40761628_A->G 17 40761628 40761628 A G snp 323.78 1/1 27 9 0 9 1.0 UTR5 rs1878388 TUBG1 AD 0.979233 0.999 0.9647 0.9686 Uncertain 17_40766546_C->G 17 40766546 40766546 C G snp 1467.77 0/1 99 126 69 57 0.45 exonic rs1045710 TUBG1 AD synonymous SNV NM_001070 exon10 c.C1029G p.R343R 0.591054 0.4673 0.577521 0.5582 0.4470 Uncertain 17_40811781_C->T 17 40811781 40811781 C T snp 3026.77 0/1 99 250 132 118 0.47 intronic rs2292750 TUBG2 AU NM_016437 exon2 c.330-70C>T 0.609425 0.4623 Uncertain 17_40811919_A->G 17 40811919 40811919 A G snp 2333.77 0/1 99 190 96 94 0.49 exonic rs525911 TUBG2 AU synonymous SNV NM_016437 exon2 c.A117G p.E39E 0.5645 0.4441 Uncertain 17_40811997_G->T 17 40811997 40811997 G T snp 154.77 0/1 99 18 11 7 0.39 intronic rs526779 TUBG2 AU NM_016437 exon2 c.443+33G>T 0.609425 0.4623 0.5298 0.4176 Uncertain 17_40812797_-->T 17 40812797 40812797 - T indel 1217.73 0/1 99 61 22 39 0.64 intronic rs3835175 TUBG2 AU NM_016437 exon4 c.1204+72insT 0.390775 0.5278 Uncertain 17_40817448_G->A 17 40817448 40817448 G A snp 384.77 0/1 99 20 7 13 0.65 intronic rs3817331 TUBG2 AU NM_016437 exon7 c.5972-45G>A 0.423722 0.5337 0.403199 0.4027 0.5455 Uncertain 17_40817990_G->A 17 40817990 40817990 G A snp 1154.77 1/1 84 38 0 38 1.0 intronic rs7225374 TUBG2 AU NM_016437 exon9 c.6583-114G>A 0.976438 0.998 Uncertain 17_40818451_G->A 17 40818451 40818451 G A snp 3233.06 0/1 99 250 128 122 0.49 exonic rs1554227 TUBG2 AU synonymous SNV NM_016437 exon10 c.G1107A p.S369S 0.503794 0.4633 0.5313 0.4505 Uncertain 17_40818584_C->T 17 40818584 40818584 C T snp 2891.77 0/1 99 250 146 104 0.42 intronic rs2292749 TUBG2 AU NM_016437 exon11 c.7099-36C>T 0.330471 0.4474 0.263340 0.3034 0.4375 Uncertain 17_40818699_A->G 17 40818699 40818699 A G snp 2954.77 0/1 99 250 136 114 0.46 exonic rs1046097 TUBG2 AU nonsynonymous SNV NM_016437 exon11 c.A1237G p.M413V 0.477835 0.4643 0.475396 0.5287 0.4518 0.66 T 0.845 P -0.986 T 0.0 T 0.0 T Pathogenic 17_40822308_C->A 17 40822308 40822308 C A snp 601.77 1/1 45 23 0 23 1.0 exonic rs8071056 PLEKHH3 AU nonsynonymous SNV NM_024927 exon11 c.G1641T p.Q547H 0.977835 0.999 0.9755 0.9706 0.53 T 1.000 P -1.015 T 0.0 T 0.0 T Pathogenic 17_40822678_C->T 17 40822678 40822678 C T snp 1309.77 0/1 99 124 66 58 0.47 exonic rs2277618 PLEKHH3 AU synonymous SNV NM_024927 exon10 c.G1467A p.G489G 0.212859 0.5347 0.094034 0.1847 0.5459 Uncertain 17_40826526_AGG->- 17 40826526 40826528 AGG - indel 712.73 1/1 39 17 0 17 1.0 intronic rs10566217 PLEKHH3 AU NM_024927 exon12 c.6283+99_6283+101delAGG 0.977835 0.999 Uncertain 17_40834631_G->C 17 40834631 40834631 G C snp 35.77 0/1 64 6 4 2 0.33 upstream rs12947031 CCR10 AU 0.511781 0.4633 Uncertain 17_40835819_-->T 17 40835819 40835819 - T indel 1964.73 0/1 99 138 84 54 0.39 intronic rs36108420 CNTNAP1 AR NM_003632 exon2 c.991-19insT 0.547324 0.4663 0.565426 0.5941 0.4592 Uncertain 17_40835922_A->C 17 40835922 40835922 A C snp 1820.77 0/1 99 208 128 80 0.38 exonic rs2271029 CNTNAP1 AR synonymous SNV NM_003632 exon2 c.A151C p.R51R 0.578275 0.4663 0.598493 0.5981 0.4521 Uncertain 17_40836374_T->C 17 40836374 40836374 T C snp 349.78 1/1 27 10 0 10 1.0 intronic rs6503718 CNTNAP1 AR NM_003632 exon3 c.1400+127T>C 1 1 Uncertain 17_40836975_A->G 17 40836975 40836975 A G snp 860.77 0/1 99 71 37 34 0.48 intronic rs9889373 CNTNAP1 AR NM_003632 exon4 c.2161-33A>G 0.670527 0.4653 0.695986 0.6245 0.4518 Uncertain 17_40841397_C->T 17 40841397 40841397 C T snp 408.77 0/1 99 22 10 12 0.55 intronic rs2271028 CNTNAP1 AR NM_003632 exon11 c.6691-141C>T 0.487819 0.4702 Uncertain 17_40842084_G->A 17 40842084 40842084 G A snp 1077.77 0/1 99 112 61 51 0.46 intronic rs3760386 CNTNAP1 AR NM_003632 exon12 c.7258-21G>A 0.553315 0.4702 0.544749 0.5219 0.4611 Uncertain 17_40849842_A->G 17 40849842 40849842 A G snp 3238.77 0/1 99 250 129 121 0.48 intronic rs1553468 CNTNAP1 AR NM_003632 exon22 c.14970+25A>G 0.614417 0.503 0.621867 0.5459 0.4899 Uncertain 17_40854534_-->T 17 40854534 40854534 - T indel 1620.73 0/1 99 97 51 46 0.47 UTR3 rs3841620 EZH1 AU 0.482228 0.4395 0.513933 0.5419 0.5036 Uncertain 17_40912760_A->G 17 40912760 40912760 A G snp 121.77 0/1 99 26 20 6 0.23 ncRNA_intronic rs1078523 RAMP2-AS1 AU 0.372204 0.5198 0.4487 0.5448 Uncertain 17_40926695_A->T 17 40926695 40926695 A T snp 1419.77 0/1 99 121 53 68 0.56 exonic rs2305218 VPS25 AU synonymous SNV NM_032353 exon3 c.A231T p.V77V 0.103435 0.1825 0.048824 0.0602 0.1725 Uncertain 17_40939945_-->A 17 40939945 40939945 - A indel 3578.73 0/1 99 203 102 101 0.5 intronic rs146980074 WNK4 AD NM_032387 exon8 c.7201+28insA 0.0141773 0.0397 0.009917 0.0173 0.0557 Uncertain 17_40947440_C->T 17 40947440 40947440 C T snp 1957.77 0/1 99 197 114 83 0.42 intronic rs2290040 WNK4 AD NM_032387 exon15 c.14762-38C>T 0.0407348 0.1776 0.001153 0.0176 0.1689 ID=CS045336;DIS=Hypertension, in men, association with;TAG=DP;PUB=15309683 DP Uncertain 17_40996563_A->G 17 40996563 40996563 A G snp 799.77 0/1 99 56 28 28 0.5 upstream;downstream rs16968038 AOC2;PSME3 UN 0.0726837 0.1815 Uncertain 17_41046440_T->G 17 41046440 41046440 T G snp 743.77 1/1 57 24 0 24 1.0 ncRNA_intronic rs324079 LINC00671 AU 0.793131 0.4544 Uncertain 17_41063466_T->C 17 41063466 41063466 T C snp 3052.77 1/1 99 85 0 85 1.0 UTR3 rs2229611 G6PC AR 0.638379 0.4623 0.754439 0.7124 0.4492 Uncertain 17_41103938_T->C 17 41103938 41103938 T C snp 3369.77 1/1 99 132 0 132 1.0 intronic rs534720 AARSD1 AU NM_001261434 exon2 c.1302+27T>C 0.991214 1 0.994232 0.9984 1 Uncertain 17_41113132_A->- 17 41113132 41113132 A - indel 268.73 0/1 99 20 11 9 0.45 intronic rs35166621 AARSD1 AU NM_001261434 exon10 c.10599-76delA 0.613818 0.8472 Uncertain 17_41113543_C->G 17 41113543 41113543 C G snp 139.03 1/1 12 4 0 4 1.0 intronic rs2670865 AARSD1 AU NM_001261434 exon10 c.10759+175C>G 0.929513 1 Uncertain 17_41116234_G->A 17 41116234 41116234 G A snp 6646.77 1/1 99 242 0 242 1.0 exonic rs690941 AARSD1 AU synonymous SNV NM_001261434 exon2 c.C60T p.S20S 0.929513 1 0.925035 0.9794 0.9995 -1.002 T Likely benign 17_41116292_AGCCCT->- 17 41116292 41116297 AGCCCT - indel 7702.73 1/1 99 125 0 125 1.0 intronic rs11278824 AARSD1 AU NM_001261434 exon11 c.13645+38_13645+43delAGCCCT 0.9998 1 0.998794 0.9998 0.9999 Uncertain 17_41116565_G->T 17 41116565 41116565 G T snp 2070.77 1/1 99 85 1 84 0.99 intronic rs690971 PTGES3L-AARSD1 AU NM_001136042 exon11 c.13645+311G>T 0.929712 1 0.9860 1 Uncertain 17_41116723_G->A 17 41116723 41116723 G A snp 96.28 1/1 9 3 0 3 1.0 intronic rs690979 PTGES3L-AARSD1 AU NM_001136042 exon11 c.13645+469G>A 0.929513 1 Uncertain 17_41121210_GC->- 17 41121210 41121211 GC - indel 3034.73 1/1 99 110 0 110 1.0 intronic PTGES3L AU NM_001142654 exon1 c.39+7_39+8delGC 0.1103 0.0916 Uncertain 17_41121211_C->- 17 41121211 41121211 C - indel 2539.73 1/1 99 111 1 110 0.99 intronic rs113173233 PTGES3L AU NM_001142654 exon1 c.39+8delC 0.999201 1 0.6339 0.7644 Uncertain 17_41121217_G->A 17 41121217 41121217 G A snp 2517.77 1/1 99 107 2 105 0.98 intronic rs7217553 PTGES3L AU NM_001142654 exon1 c.39+14G>A 0.898962 0.9871 0.6112 0.8390 Uncertain 17_41121218_G->A 17 41121218 41121218 G A snp 1418.77 0/1 99 106 45 61 0.58 intronic rs74698098 PTGES3L AU NM_001142654 exon1 c.39+15G>A 0.336062 0.1528 0.0063 0 Uncertain 17_41121263_G->A 17 41121263 41121263 G A snp 791.77 0/1 99 82 47 35 0.43 intronic rs4793187 PTGES3L AU NM_001142654 exon1 c.39+60G>A 0.61881 0.8472 Uncertain 17_41122443_T->C 17 41122443 41122443 T C snp 1790.77 1/1 99 70 0 70 1.0 intronic rs2670866 PTGES3L AU NM_001142654 exon2 c.1195+84T>C 0.977236 1 Uncertain 17_41132578_T->C 17 41132578 41132578 T C snp 912.77 1/1 66 33 0 33 1.0 upstream rs692074 PTGES3L AU 0.977436 1 0.980868 0.9944 1 Uncertain 17_41133071_T->C 17 41133071 41133071 T C snp 3974.77 1/1 99 151 1 150 0.99 exonic rs1708875 RUNDC1 AU nonsynonymous SNV NM_173079 exon1 c.T478C p.W160R 0.926917 1 0.937123 0.9866 1 0.73 T 0.0 P -0.996 T 0.0 T 0.0 T Pathogenic 17_41133242_G->A 17 41133242 41133242 G A snp 2115.77 1/1 99 81 0 81 1.0 intronic rs550285 RUNDC1 AU NM_173079 exon1 c.498+151G>A 0.926518 1 Uncertain 17_41143379_C->G 17 41143379 41143379 C G snp 3039.77 0/1 99 250 135 115 0.46 exonic rs777111760 RUNDC1 AU synonymous SNV NM_173079 exon5 c.C1488G p.L496L 6.591e-05 0.0009 Uncertain 17_41150983_T->C 17 41150983 41150983 T C snp 2286.77 1/1 99 73 0 73 1.0 intronic rs691954 RPL27 AU NM_000988 exon2 c.81+135T>C 0.977037 1 Uncertain 17_41154817_A->C 17 41154817 41154817 A C snp 741.77 0/1 99 89 54 35 0.39 intronic rs11871636 RPL27 AU NM_000988 exon4 c.4033+17A>C 0.749002 0.8472 0.754498 0.7815 0.8499 Uncertain 17_41164126_A->C 17 41164126 41164126 A C snp 294.78 1/1 24 9 0 9 1.0 intronic rs692651 IFI35 AU NM_005533 exon2 c.5231-69A>C 0.999401 1 Uncertain 17_41165493_A->G 17 41165493 41165493 A G snp 5820.77 1/1 99 203 0 203 1.0 exonic rs588703 IFI35 AU nonsynonymous SNV NM_005533 exon5 c.A382G p.M128V 0.975439 1 0.975857 0.9935 1 0.000 P -0.971 T Pathogenic 17_41165734_C->T 17 41165734 41165734 C T snp 1325.77 0/1 99 105 51 54 0.51 intronic rs443759 IFI35 AU NM_005533 exon5 c.6715+55C>T 0.749601 0.9177 Uncertain 17_41165878_C->T 17 41165878 41165878 C T snp 1504.77 1/1 99 51 0 51 1.0 exonic rs13229 IFI35 AU synonymous SNV NM_005533 exon6 c.C654T p.N218N 0.97524 1 0.976011 0.9936 1 Uncertain 17_41167957_C->A 17 41167957 41167957 C A snp 992.77 0/1 99 81 41 40 0.49 UTR3 rs455055 VAT1 AU 0.625 0.9177 Uncertain 17_41170898_T->C 17 41170898 41170898 T C snp 639.77 0/1 99 50 22 28 0.56 intronic rs429464 VAT1 AU NM_006373 exon5 c.2739+82T>C 0.800319 0.9187 Uncertain 17_41170944_TAA->- 17 41170944 41170946 TAA - indel 757.73 1/1 45 22 0 22 1.0 intronic rs149502667 VAT1 AU NM_006373 exon5 c.2739+128_2739+130delTAA 0.975839 1 Uncertain 17_41174025_A->C 17 41174025 41174025 A C snp 1727.77 1/1 99 62 1 61 0.98 exonic rs2070835 VAT1 AU synonymous SNV NM_006373 exon1 c.T315G p.P105P 0.342652 0.374 0.271085 0.3594 0.3916 Uncertain 17_41180772_C->T 17 41180772 41180772 C T snp 255.8 1/1 21 8 0 8 1.0 UTR3 rs12944458 RND2 AU 0.342252 0.371 Uncertain 17_41215825_C->T 17 41215825 41215825 C T snp 795.77 1/1 60 25 0 25 1.0 intronic rs3092994 BRCA1 AU,AD,AO NM_007300 exon7 c.18196-65C>T 0.342452 0.371 CLINSIG=untested|untested;CLNDBN=Familial_cancer_of_breast|Breast-ovarian_cancer\x2c_familial_1;CLNREVSTAT=no_assertion_provided|no_assertion_provided;CLNACC=RCV000048825.3|RCV000112521.1;CLNDSDB=GeneReviews:MedGen:OMIM:SNOMED_CT|GeneReviews:MedGen:OMIM:Orphanet;CLNDSDBID=NBK1247:C0346153:114480:254843006|NBK1247:C2676676:604370:ORPHA145 ID=CS045209;DIS=Breast cancer;TAG=DM?;PUB=15564800 DM? Uncertain 17_41219560_C->T 17 41219560 41219560 C T snp 3078.77 1/1 99 113 0 113 1.0 intronic rs8176235 BRCA1 AU,AD,AO NM_007300 exon8 c.21930-64C>T 0.306909 0.372 CLINSIG=untested;CLNDBN=Familial_cancer_of_breast;CLNREVSTAT=no_assertion_provided;CLNACC=RCV000114978.1;CLNDSDB=GeneReviews:MedGen:OMIM:SNOMED_CT;CLNDSDBID=NBK1247:C0346153:114480:254843006 ID=COSN165430;OCCURENCE=1(breast) Uncertain 17_41219780_T->C 17 41219780 41219780 T C snp 478.77 1/1 36 14 0 14 1.0 intronic rs8176234 BRCA1 AU,AD,AO NM_007300 exon8 c.22018+68T>C 0.354633 0.372 CLINSIG=untested;CLNDBN=Breast-ovarian_cancer\x2c_familial_1;CLNREVSTAT=no_assertion_provided;CLNACC=RCV000112451.1;CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet;CLNDSDBID=NBK1247:C2676676:604370:ORPHA145 Uncertain 17_41219804_T->C 17 41219804 41219804 T C snp 339.78 1/1 27 9 0 9 1.0 intronic rs8176233 BRCA1 AU,AD,AO NM_007300 exon8 c.22018+92T>C 0.354633 0.372 CLINSIG=untested;CLNDBN=Breast-ovarian_cancer\x2c_familial_1;CLNREVSTAT=no_assertion_provided;CLNACC=RCV000112454.1;CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet;CLNDSDBID=NBK1247:C2676676:604370:ORPHA145 Uncertain 17_41223094_T->C 17 41223094 41223094 T C snp 5230.77 1/1 99 182 0 182 1.0 exonic rs1799966 BRCA1 AU,AD,AO nonsynonymous SNV NM_007294 exon15 c.A4837G p.S1613G 0.355831 0.372 0.298170 0.3496 0.3805 0.05 T 0.0 P -1.080 T 0.459 P 0.115 P CLINSIG=probable-non-pathogenic|probable-non-pathogenic|probable-non-pathogenic,non-pathogenic|non-pathogenic|non-pathogenic|non-pathogenic|non-pathogenic|non-pathogenic;CLNDBN=Familial_cancer_of_breast|Hereditary_cancer-predisposing_syndrome|BRCA1_and_BRCA2_Hereditary_Breast_and_Ovarian_Cancer,not_provided|Familial_cancer_of_breast|Breast-ovarian_cancer\x2c_familial_1|BRCA1_and_BRCA2_Hereditary_Breast_and_Ovarian_Cancer|not_specified|Hereditary_cancer-predisposing_syndrome;CLNREVSTAT=criteria_provided\x2c_single_submitter|criteria_provided\x2c_single_submitter|no_assertion_criteria_provided,no_assertion_criteria_provided|criteria_provided\x2c_single_submitter|criteria_provided\x2c_single_submitter|no_assertion_criteria_provided|criteria_provided\x2c_single_submitter|criteria_provided\x2c_single_submitter;CLNACC=RCV000048673.4|RCV000130704.2|RCV000167795.1,RCV000034753.3|RCV000048672.5|RCV000112410.3|RCV000119096.1|RCV000120260.3|RCV000128996.2;CLNDSDB=GeneReviews:MedGen:OMIM:SNOMED_CT|MedGen:SNOMED_CT|GeneReviews:MedGen,MedGen|GeneReviews:MedGen:OMIM:SNOMED_CT|GeneReviews:MedGen:OMIM:Orphanet|GeneReviews:MedGen|MedGen|MedGen:SNOMED_CT;CLNDSDBID=NBK1247:C0346153:114480:254843006|C0027672:699346009|NBK1247:C0677776,CN221809|NBK1247:C0346153:114480:254843006|NBK1247:C2676676:604370:ORPHA145|NBK1247:C0677776|CN169374|C0027672:699346009 ID=COSM3755560;OCCURENCE=1(large_intestine) ID=CM1210129;DIS=Breast cancer;TAG=R;PUB=22921312 R Pathogenic 17_41226601_G->C 17 41226601 41226601 G C snp 906.77 1/1 69 23 0 23 1.0 intronic rs273900734 BRCA1 AU,AD,AO NM_007300 exon10 c.28844+63G>C 0.353435 0.371 Uncertain 17_41234470_A->G 17 41234470 41234470 A G snp 4069.77 1/1 99 151 0 151 1.0 exonic rs1060915 BRCA1 AU,AD,AO synonymous SNV NM_007294 exon12 c.T4308C p.S1436S 0.336262 0.371 0.279563 0.3431 0.3777 0.0 P -0.931 T CLINSIG=non-pathogenic|non-pathogenic|non-pathogenic|non-pathogenic;CLNDBN=Breast-ovarian_cancer\x2c_familial_1|Familial_cancer_of_breast|Hereditary_cancer-predisposing_syndrome|not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter|criteria_provided\x2c_single_submitter|criteria_provided\x2c_single_submitter|criteria_provided\x2c_single_submitter;CLNACC=RCV000112313.3|RCV000114988.2|RCV000128938.2|RCV000152866.2;CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet|GeneReviews:MedGen:OMIM:SNOMED_CT|MedGen:SNOMED_CT|MedGen;CLNDSDBID=NBK1247:C2676676:604370:ORPHA145|NBK1247:C0346153:114480:254843006|C0027672:699346009|CN169374 Likely benign 17_41243190_T->G 17 41243190 41243190 T G snp 212.84 1/1 18 6 0 6 1.0 intronic rs799916 BRCA1 AU,AD,AO NM_007300 exon14 c.45355+141T>G 0.502396 0.371 CLINSIG=unknown|untested;CLNDBN=Breast-ovarian_cancer\x2c_familial_1|Familial_cancer_of_breast;CLNREVSTAT=no_assertion_criteria_provided|no_assertion_provided;CLNACC=RCV000112254.1|RCV000114977.1;CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet|GeneReviews:MedGen:OMIM:SNOMED_CT;CLNDSDBID=NBK1247:C2676676:604370:ORPHA145|NBK1247:C0346153:114480:254843006 Uncertain 17_41244000_T->C 17 41244000 41244000 T C snp 6620.77 1/1 99 228 0 228 1.0 exonic rs16942 BRCA1 AU,AD,AO nonsynonymous SNV NM_007294 exon10 c.A3548G p.K1183R 0.352636 0.371 0.295248 0.3490 0.3827 1 T 0.0 P -1.024 T 0.0 T 0.002 T CLINSIG=non-pathogenic|non-pathogenic|non-pathogenic|non-pathogenic|non-pathogenic|non-pathogenic;CLNDBN=not_provided|BRCA1_and_BRCA2_Hereditary_Breast_and_Ovarian_Cancer|Breast-ovarian_cancer\x2c_familial_1|not_specified|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast;CLNREVSTAT=no_assertion_criteria_provided|no_assertion_criteria_provided|criteria_provided\x2c_single_submitter|criteria_provided\x2c_single_submitter|criteria_provided\x2c_single_submitter|criteria_provided\x2c_single_submitter;CLNACC=RCV000034742.3|RCV000048229.3|RCV000112115.3|RCV000120278.3|RCV000128991.2|RCV000157734.1;CLNDSDB=MedGen|GeneReviews:MedGen|GeneReviews:MedGen:OMIM:Orphanet|MedGen|MedGen:SNOMED_CT|GeneReviews:MedGen:OMIM:SNOMED_CT;CLNDSDBID=CN221809|NBK1247:C0677776|NBK1247:C2676676:604370:ORPHA145|CN169374|C0027672:699346009|NBK1247:C0346153:114480:254843006 ID=COSM148277;OCCURENCE=1(stomach),1(thyroid),1(large_intestine) ID=CM058359;DIS=Breast cancer, protection against, association with;TAG=DP;PUB=16026807 DP Pathogenic 17_41244435_T->C 17 41244435 41244435 T C snp 7212.77 1/1 99 246 0 246 1.0 exonic rs16941 BRCA1 AU,AD,AO nonsynonymous SNV NM_007294 exon10 c.A3113G p.E1038G 0.335663 0.371 0.279025 0.3429 0.3777 0.04 T 0.0 P -1.094 T 0.936 T 0.606 D CLINSIG=non-pathogenic|non-pathogenic|non-pathogenic|non-pathogenic|non-pathogenic;CLNDBN=not_provided|Breast-ovarian_cancer\x2c_familial_1|Familial_cancer_of_breast|not_specified|Hereditary_cancer-predisposing_syndrome;CLNREVSTAT=no_assertion_criteria_provided|criteria_provided\x2c_single_submitter|criteria_provided\x2c_single_submitter|criteria_provided\x2c_single_submitter|criteria_provided\x2c_single_submitter;CLNACC=RCV000034738.3|RCV000112006.3|RCV000114987.2|RCV000120276.3|RCV000128978.2;CLNDSDB=MedGen|GeneReviews:MedGen:OMIM:Orphanet|GeneReviews:MedGen:OMIM:SNOMED_CT|MedGen|MedGen:SNOMED_CT;CLNDSDBID=CN221809|NBK1247:C2676676:604370:ORPHA145|NBK1247:C0346153:114480:254843006|CN169374|C0027672:699346009 ID=COSM3755563;OCCURENCE=1(large_intestine) ID=CM032861;DIS=Endometriosis, association with;TAG=DP;PUB=12568865 DP Pathogenic 17_41244936_G->A 17 41244936 41244936 G A snp 7949.77 1/1 99 250 0 250 1.0 exonic rs799917 BRCA1 AU,AD,AO nonsynonymous SNV NM_007294 exon10 c.C2612T p.P871L 0.54393 0.371 0.493157 0.4100 0.3780 1 T 0.004 P -0.937 T 0.0 T 0.0 T CLINSIG=non-pathogenic|non-pathogenic|non-pathogenic|non-pathogenic|non-pathogenic,probable-non-pathogenic,untested|unknown;CLNDBN=not_provided|Breast-ovarian_cancer\x2c_familial_1|Familial_cancer_of_breast|not_specified|Hereditary_cancer-predisposing_syndrome,Breast-ovarian_cancer\x2c_familial_1,Familial_cancer_of_breast|Breast-ovarian_cancer\x2c_familial_1;CLNREVSTAT=no_assertion_criteria_provided|criteria_provided\x2c_single_submitter|criteria_provided\x2c_single_submitter|criteria_provided\x2c_single_submitter|criteria_provided\x2c_single_submitter,no_assertion_criteria_provided,no_assertion_provided|no_assertion_criteria_provided;CLNACC=RCV000034735.3|RCV000111903.3|RCV000114986.2|RCV000120285.3|RCV000132149.2,RCV000077111.2,RCV000047899.2|RCV000111902.1;CLNDSDB=MedGen|GeneReviews:MedGen:OMIM:Orphanet|GeneReviews:MedGen:OMIM:SNOMED_CT|MedGen|MedGen:SNOMED_CT,GeneReviews:MedGen:OMIM:Orphanet,GeneReviews:MedGen:OMIM:SNOMED_CT|GeneReviews:MedGen:OMIM:Orphanet;CLNDSDBID=CN221809|NBK1247:C2676676:604370:ORPHA145|NBK1247:C0346153:114480:254843006|CN169374|C0027672:699346009,NBK1247:C2676676:604370:ORPHA145,NBK1247:C0346153:114480:254843006|NBK1247:C2676676:604370:ORPHA145 ID=COSM148278;OCCURENCE=1(large_intestine),1(stomach) ID=CM096315;DIS=Cervical cancer, decreased risk, association with;TAG=DFP;PUB=19482343 DFP Pathogenic 17_41245237_A->G 17 41245237 41245237 A G snp 7993.77 1/1 99 249 0 249 1.0 exonic rs16940 BRCA1 AU,AD,AO synonymous SNV NM_007294 exon10 c.T2311C p.L771L 0.335264 0.371 0.277641 0.3420 0.3785 CLINSIG=non-pathogenic|non-pathogenic|non-pathogenic|non-pathogenic;CLNDBN=Breast-ovarian_cancer\x2c_familial_1|Familial_cancer_of_breast|Hereditary_cancer-predisposing_syndrome|not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter|criteria_provided\x2c_single_submitter|criteria_provided\x2c_single_submitter|criteria_provided\x2c_single_submitter;CLNACC=RCV000111822.3|RCV000114985.2|RCV000128982.2|RCV000152867.2;CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet|GeneReviews:MedGen:OMIM:SNOMED_CT|MedGen:SNOMED_CT|MedGen;CLNDSDBID=NBK1247:C2676676:604370:ORPHA145|NBK1247:C0346153:114480:254843006|C0027672:699346009|CN169374 ID=COSM3755566;OCCURENCE=1(large_intestine) Uncertain 17_41245466_G->A 17 41245466 41245466 G A snp 6467.77 1/1 99 239 0 239 1.0 exonic rs1799949 BRCA1 AU,AD,AO synonymous SNV NM_007294 exon10 c.C2082T p.S694S 0.336462 0.371 0.295678 0.3483 0.3783 CLINSIG=non-pathogenic|non-pathogenic|non-pathogenic|non-pathogenic;CLNDBN=Breast-ovarian_cancer\x2c_familial_1|Familial_cancer_of_breast|Hereditary_cancer-predisposing_syndrome|not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter|criteria_provided\x2c_single_submitter|criteria_provided\x2c_single_submitter|criteria_provided\x2c_single_submitter;CLNACC=RCV000111763.3|RCV000114984.2|RCV000128966.2|RCV000152868.2;CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet|GeneReviews:MedGen:OMIM:SNOMED_CT|MedGen:SNOMED_CT|MedGen;CLNDSDBID=NBK1247:C2676676:604370:ORPHA145|NBK1247:C0346153:114480:254843006|C0027672:699346009|CN169374 ID=COSM148280;OCCURENCE=1(large_intestine),1(stomach) Uncertain 17_41249094_A->G 17 41249094 41249094 A G snp 56.74 1/1 6 2 0 2 1.0 intronic rs8176145 BRCA1 AU,AD,AO NM_007300 exon17 c.51566-166A>G 0.352636 0.371 Uncertain 17_41249364_A->- 17 41249364 41249364 A - indel 810.73 1/1 72 29 0 29 1.0 intronic rs273902772 BRCA1 AU,AD,AO NM_007300 exon17 c.51612+58delA 0.334864 0.371 0.278330 CLINSIG=non-pathogenic;CLNDBN=Breast-ovarian_cancer\x2c_familial_1;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000112738.2;CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet;CLNDSDBID=NBK1247:C2676676:604370:ORPHA145 Uncertain 17_41256076_AAAAAAAAAAAG->- 17 41256076 41256087 AAAAAAAAAAAG - indel 1060.75 1/1 24 8 0 8 1.0 intronic rs536390258 BRCA1 AU,AD,AO NM_007300 exon19 c.58444-62_58444-51delAAAAAAAAAAAG 0.394768 0.3899 Uncertain 17_41256101_AAG->- 17 41256101 41256103 AAG - indel 1194.73 1/1 72 24 0 24 1.0 intronic rs147856441 BRCA1 AU,AD,AO NM_007300 exon19 c.58444-37_58444-35delAAG 0.394768 0.3899 0.0074 0.0100 CLINSIG=non-pathogenic;CLNDBN=Familial_cancer_of_breast;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000159863.1;CLNDSDB=GeneReviews:MedGen:OMIM:SNOMED_CT;CLNDSDBID=NBK1247:C0346153:114480:254843006 Uncertain 17_41277187_G->C 17 41277187 41277187 G C snp 2619.77 1/1 99 84 1 83 0.99 intronic rs799905 BRCA1 AU,AD,AO NM_007300 exon24 c.79593-100G>C 0.545128 0.371 0.4805 0.4403 CLINSIG=non-pathogenic;CLNDBN=Breast-ovarian_cancer\x2c_familial_1;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000169537.1;CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet;CLNDSDBID=NBK1247:C2676676:604370:ORPHA145 Uncertain 17_41291779_G->T 17 41291779 41291779 G T snp 596.77 1/1 45 16 0 16 1.0 ncRNA_intronic rs4792978 NBR2 AU 0.353235 0.372 Uncertain 17_41291953_C->G 17 41291953 41291953 C G snp 5096.77 1/1 99 201 2 199 0.99 ncRNA_exonic rs11657835 NBR2 AU 0.335264 0.372 0.279720 0.4271 0.4525 1 T 0.0 P -0.952 T Uncertain 17_41296197_A->G 17 41296197 41296197 A G snp 842.77 1/1 60 33 0 33 1.0 ncRNA_intronic rs35170910 NBR2 AU 0.352636 0.372 0.4575 0.4408 Uncertain 17_41327621_A->G 17 41327621 41327621 A G snp 1536.77 1/1 99 42 0 42 1.0 intronic rs2271573 NBR1 AU 0.334665 0.37 Uncertain 17_41327648_T->C 17 41327648 41327648 T C snp 2032.77 1/1 99 60 0 60 1.0 intronic rs2271574 NBR1 AU 0.352835 0.371 Uncertain 17_41327650_-->T 17 41327650 41327650 - T indel 2581.73 1/1 99 62 0 62 1.0 intronic rs3215228 NBR1 AU 0.336062 0.371 Uncertain 17_41327684_-->TG 17 41327684 41327684 - TG indel 5990.73 1/1 99 122 0 122 1.0 intronic rs10684756 NBR1 AU 0.990615 0.9871 Uncertain 17_41330024_T->C 17 41330024 41330024 T C snp 1414.77 1/1 99 49 0 49 1.0 intronic rs11657883 NBR1 AU NM_005899 exon3 c.2199+9T>C 0.336062 0.371 0.283484 0.3905 0.4081 Uncertain 17_41330265_A->G 17 41330265 41330265 A G snp 133.03 1/1 12 4 0 4 1.0 intronic rs11656945 NBR1 AU NM_005899 exon3 c.2199+250A>G 0.336062 0.371 Uncertain 17_41331306_C->T 17 41331306 41331306 C T snp 4396.77 1/1 99 160 0 160 1.0 intronic rs11653460 NBR1 AU NM_005899 exon4 c.3594-104C>T 0.33766 0.371 Uncertain 17_41331460_G->A 17 41331460 41331460 G A snp 2176.77 1/1 99 73 1 72 0.99 intronic rs11653231 NBR1 AU NM_005899 exon4 c.3613+31G>A 0.352835 0.371 0.296068 0.3540 0.3779 Uncertain 17_41332804_T->C 17 41332804 41332804 T C snp 388.77 1/1 30 18 0 18 1.0 intronic rs9904555 NBR1 AU NM_005899 exon5 c.4995-7T>C 0.961661 1 0.963017 0.9904 1 Uncertain 17_41346283_G->A 17 41346283 41346283 G A snp 864.77 1/1 63 25 0 25 1.0 intronic rs4793217 NBR1 AU NM_005899 exon13 c.18550-83G>A 0.336262 0.37 Uncertain 17_41346798_T->C 17 41346798 41346798 T C snp 56.74 1/1 6 2 0 2 1.0 intronic rs3744242 NBR1 AU NM_005899 exon14 c.19164-182T>C 0.336462 0.371 Uncertain 17_41352643_C->T 17 41352643 41352643 C T snp 2627.77 1/1 99 95 0 95 1.0 intronic rs35995789 NBR1 AU NM_005899 exon17 c.24809+18C>T 0.336262 0.371 0.285728 0.3453 0.3780 Uncertain 17_41353806_C->T 17 41353806 41353806 C T snp 2600.77 1/1 99 92 0 92 1.0 intronic rs2306829 NBR1 AU NM_005899 exon18 c.25981+9C>T 0.336262 0.371 0.286602 0.3590 0.3887 Uncertain 17_41353919_A->G 17 41353919 41353919 A G snp 319.78 1/1 27 9 0 9 1.0 intronic rs36107656 NBR1 AU NM_005899 exon18 c.25981+122A>G 0.401158 0.371 Uncertain 17_41354541_T->A 17 41354541 41354541 T A snp 93.28 1/1 9 3 0 3 1.0 intronic rs34999923 NBR1 AU NM_005899 exon19 c.26855-130T>A 0.300919 0.3105 Uncertain 17_41354888_A->G 17 41354888 41354888 A G snp 1557.77 1/1 99 52 0 52 1.0 intronic rs17527933 NBR1 AU NM_005899 exon19 c.26913+159A>G 0.401158 0.371 Uncertain 17_41361751_C->T 17 41361751 41361751 C T snp 776.77 0/1 99 74 39 35 0.47 UTR3 rs148832066 NBR1 AU 0.00638978 0.0089 Uncertain 17_41361882_T->- 17 41361882 41361882 T - indel 42.73 0/1 80 26 14 12 0.46 intronic rs11322550 NBR1 AU NM_001291571 exon21 c.34060+6delT 0.450479 0.3462 0.2877 0.3645 Uncertain 17_41361960_A->G 17 41361960 41361960 A G snp 3109.77 1/1 99 110 0 110 1.0 exonic rs8482 NBR1 AU nonsynonymous SNV NM_005899 exon21 c.A2768G p.H923R 0.357029 0.373 0.305631 0.4349 0.4430 0.57 T 0.457 P -0.905 T 0.968 D 0.4 D Pathogenic 17_41364910_A->G 17 41364910 41364910 A G snp 263.8 1/1 21 8 0 8 1.0 intronic rs3803871 TMEM106A AU 0.336262 0.371 Uncertain 17_41454935_T->C 17 41454935 41454935 T C snp 1030.77 0/1 99 61 21 40 0.66 ncRNA_exonic rs2061873 LINC00910 AU 0.353834 0.2798 0.2346 0.3458 Uncertain 17_41456413_A->G 17 41456413 41456413 A G snp 215.77 0/1 99 15 8 7 0.47 ncRNA_intronic rs56799554 LINC00910 AU 0.227236 0.2798 Uncertain 17_41465877_A->C 17 41465877 41465877 A C snp 4632.77 0/1 99 250 72 178 0.71 ncRNA_exonic rs77516390 LINC00910 AU Uncertain 17_41465893_C->A 17 41465893 41465893 C A snp 4720.77 0/1 99 244 72 172 0.7 ncRNA_exonic rs75477609 LINC00910 AU Uncertain 17_41465894_T->C 17 41465894 41465894 T C snp 4720.77 0/1 99 243 73 170 0.7 ncRNA_exonic rs77055481 LINC00910 AU Uncertain 17_41466019_T->G 17 41466019 41466019 T G snp 1997.77 0/1 99 151 74 77 0.51 ncRNA_exonic rs756100328 LINC00910 AU Uncertain 17_41466022_G->C 17 41466022 41466022 G C snp 2102.77 0/1 99 149 71 78 0.52 ncRNA_exonic rs79526563 LINC00910 AU Uncertain 17_41466035_A->C 17 41466035 41466035 A C snp 2480.77 0/1 99 155 59 96 0.62 ncRNA_exonic rs79889672 LINC00910 AU Uncertain 17_41466049_A->G 17 41466049 41466049 A G snp 2665.77 0/1 99 161 52 109 0.68 ncRNA_exonic rs62080661 LINC00910 AU Uncertain 17_41466055_G->C 17 41466055 41466055 G C snp 2522.77 0/1 99 153 49 104 0.68 ncRNA_exonic rs62080662 LINC00910 AU Uncertain 17_41466096_A->G 17 41466096 41466096 A G snp 2577.77 0/1 99 130 22 108 0.83 ncRNA_exonic rs62080664 LINC00910 AU Uncertain 17_41466108_G->C 17 41466108 41466108 G C snp 2394.77 0/1 99 121 20 101 0.83 ncRNA_exonic rs62080665 LINC00910 AU Uncertain 17_41466121_CGGCGCATGGA->- 17 41466121 41466131 CGGCGCATGGA - indel 10815.7 0/1 99 110 15 95 0.86 ncRNA_exonic rs201706976 LINC00910 AU Uncertain 17_41466210_T->G 17 41466210 41466210 T G snp 735.77 0/1 99 32 6 26 0.81 ncRNA_exonic rs4792984 LINC00910 AU Uncertain 17_41466224_A->C 17 41466224 41466224 A C snp 529.77 0/1 99 22 4 18 0.82 ncRNA_exonic rs667082 LINC00910 AU 0.000199681 0.001 Uncertain 17_41466230_T->C 17 41466230 41466230 T C snp 418.77 0/1 71 17 3 14 0.82 ncRNA_exonic rs62080667 LINC00910 AU Uncertain 17_41466239_T->C 17 41466239 41466239 T C snp 273.77 0/1 52 10 2 8 0.8 ncRNA_exonic rs62080668 LINC00910 AU 0.000798722 0.004 Uncertain 17_41561602_GGAAGGA->- 17 41561602 41561608 GGAAGGA - indel 18563.7 1/1 99 221 0 221 1.0 intronic rs11279905 DHX8 AU NM_004941 exon1 c.148+49_148+55delGGAAGGA 0.897364 0.9841 0.859362 0.8907 0.9892 Uncertain 17_41566969_T->G 17 41566969 41566969 T G snp 268.77 0/1 99 14 5 9 0.64 intronic rs1807204 DHX8 AU NM_004941 exon2 c.5497+67T>G 0.241014 0.3254 Uncertain 17_41570427_T->C 17 41570427 41570427 T C snp 407.77 0/1 99 41 24 17 0.41 intronic rs2279191 DHX8 AU NM_004941 exon6 c.9003+19T>C 0.226438 0.3254 0.213671 0.2463 0.3109 Uncertain 17_41573730_T->C 17 41573730 41573730 T C snp 873.77 0/1 99 70 34 36 0.51 intronic rs12602059 DHX8 AU NM_004941 exon9 c.12231+94T>C 0.225839 0.3244 Uncertain 17_41582284_A->G 17 41582284 41582284 A G snp 420.77 0/1 99 36 17 19 0.53 intronic rs55956367 DHX8 AU NM_004941 exon12 c.20788+91A>G 0.225439 0.3244 Uncertain 17_41585657_G->A 17 41585657 41585657 G A snp 1282.77 1/1 93 42 0 42 1.0 intronic rs2293014 DHX8 AU NM_004941 exon16 c.24301-49G>A 0.667133 0.7212 0.5636 0.7347 Uncertain 17_41590928_C->T 17 41590928 41590928 C T snp 1394.77 0/1 99 136 78 58 0.43 intronic rs9893137 DHX8 AU NM_004941 exon17 c.29465+58C>T 0.226438 0.3244 Uncertain 17_41598940_T->C 17 41598940 41598940 T C snp 1527.77 0/1 99 131 64 67 0.51 intronic rs2271957 DHX8 AU NM_004941 exon21 c.37528+7T>C 0.279553 0.3244 0.285253 0.2698 0.3107 Uncertain 17_41599383_G->A 17 41599383 41599383 G A snp 778.77 0/1 99 66 35 31 0.47 intronic rs2271958 DHX8 AU NM_004941 exon22 c.38009-31G>A 0.226438 0.3244 0.217669 0.2509 0.3112 Uncertain 17_41599690_G->A 17 41599690 41599690 G A snp 32.77 0/1 61 5 3 2 0.4 intronic rs72833136 DHX8 AU NM_004941 exon22 c.38189+96G>A 0.210863 0.3244 Uncertain 17_41603882_T->C 17 41603882 41603882 T C snp 792.77 0/1 99 69 35 34 0.49 exonic rs9915640 DHX8 AU synonymous SNV NM_001302623 exon23 c.T3462C p.P1154P 0.293131 0.3234 0.2725 0.2687 Uncertain 17_41606248_T->C 17 41606248 41606248 T C snp 158.77 0/1 99 8 3 5 0.63 intronic rs55989313 ETV4 AU NM_001986 exon1 c.225+137T>C 0.227236 0.3244 Uncertain 17_41610398_C->T 17 41610398 41610398 C T snp 258.77 0/1 99 23 12 11 0.48 intronic rs2242598 ETV4 AU NM_001986 exon6 c.4421+91C>T 0.230631 0.3244 Uncertain 17_41613691_G->T 17 41613691 41613691 G T snp 1115.77 0/1 99 100 53 47 0.47 intronic rs56357945 ETV4 AU NM_001986 exon9 c.7907-102G>T 0.23103 0.3244 Uncertain 17_41622507_A->G 17 41622507 41622507 A G snp 362.77 0/1 99 25 14 11 0.44 intronic rs79868029 ETV4 AU NM_001986 exon10 c.16504+117A>G 0.234625 0.3194 Uncertain 17_41622740_G->T 17 41622740 41622740 G T snp 1705.77 0/1 99 134 62 72 0.54 splicing rs2271959 ETV4 AU NM_001986 exon11 c.16849+5G>T 0.234625 0.3194 0.236695 0.3688 0.3982 Pathogenic 17_41719127_CAGGAATGCTGGGCAGTTT->- 17 41719127 41719145 CAGGAATGCTGGGCAGTTT - indel 1244.73 0/1 99 14 8 6 0.43 UTR3 rs536283503 MEOX1 AR 0.00638978 0.0149 Uncertain 17_41846964_T->C 17 41846964 41846964 T C snp 430.77 1/1 33 12 0 12 1.0 UTR3 rs1230403 DUSP3 AU 0.988618 1 0.966241 0.9746 0.9994 Uncertain 17_41855072_T->C 17 41855072 41855072 T C snp 1385.77 1/1 99 40 0 40 1.0 intronic rs7225685 DUSP3 AU NM_004090 exon3 c.9191-1095T>C 0.176318 0.131 Uncertain 17_41858026_G->T 17 41858026 41858026 G T snp 2866.77 1/1 99 97 0 97 1.0 intronic rs2301682 C17orf105 AU NM_001136483 exon1 c.124+72G>T 0.118011 0.1339 Uncertain 17_41858322_T->A 17 41858322 41858322 T A snp 2543.77 1/1 99 72 0 72 1.0 intronic rs76293039 C17orf105 AU NM_001136483 exon2 c.656-164T>A 0.119209 0.1339 Uncertain 17_41860755_G->A 17 41860755 41860755 G A snp 478.77 1/1 36 13 0 13 1.0 intronic rs2301683 C17orf105 AU NM_001136483 exon4 c.2841+84G>A 0.176518 0.1319 Uncertain 17_41955158_A->G 17 41955158 41955158 A G snp 5902.77 1/1 99 220 1 219 1.0 UTR3 rs231521 MPP2 AU 0.910743 1 0.864985 0.8875 0.9997 Uncertain 17_41959808_T->C 17 41959808 41959808 T C snp 7875.77 1/1 99 250 0 250 1.0 exonic rs124721 MPP2 AU synonymous SNV NM_001278371 exon5 c.A492G p.Q164Q 0.920927 1 0.877749 0.8908 0.9997 Uncertain 17_41960343_T->C 17 41960343 41960343 T C snp 799.77 1/1 57 30 0 30 1.0 exonic rs124719 MPP2 AU synonymous SNV NM_001278371 exon4 c.A348G p.T116T 0.826278 1 0.779871 0.8611 0.9997 Uncertain 17_41960633_C->G 17 41960633 41960633 C G snp 2315.77 1/1 99 87 0 87 1.0 exonic rs412849 MPP2 AU nonsynonymous SNV NM_001278371 exon3 c.G208C p.V70L 1 1 1 1 0.83 T 0.000 P -0.992 T 0.0 T 0.002 T Pathogenic 17_41960634_G->C 17 41960634 41960634 G C snp 2348.77 1/1 99 88 0 88 1.0 exonic rs440755 MPP2 AU nonsynonymous SNV NM_001278371 exon3 c.C207G p.H69Q 1 1 1 1 0.73 T 0.000 P -0.994 T 0.001 T 0.001 T Pathogenic 17_41961451_T->C 17 41961451 41961451 T C snp 2787.77 1/1 99 106 0 106 1.0 splicing rs231518 MPP2 AU NM_001278372 exon11 c.6277T>C 0.921126 1 0.8831 1 0.0 P Pathogenic 17_41982012_G->A 17 41982012 41982012 G A snp 133.03 1/1 12 4 0 4 1.0 intronic rs231485 MPP2 AU NM_001278374 exon11 c.26687+151G>A 0.544329 0.6538 Uncertain 17_41994794_C->T 17 41994794 41994794 C T snp 1458.77 1/1 99 48 0 48 1.0 ncRNA_exonic rs231458 FAM215A AU 0.588259 0.8244 0.5235 0.7985 Uncertain 17_42018471_T->C 17 42018471 42018471 T C snp 2876.77 1/1 99 110 0 110 1.0 intronic rs231473 PPY AU NM_002722 exon2 c.215-39T>C 0.671725 0.9008 0.553730 0.6154 0.9039 Uncertain 17_42030175_G->T 17 42030175 42030175 G T snp 1084.77 1/1 81 37 0 37 1.0 UTR3 rs162431 PYY AU ID=CR097754;DIS=Metabolic syndrome traits, association with;TAG=DFP;PUB=19820027 DFP Likely pathogenic 17_42030409_G->A 17 42030409 42030409 G A snp 7621.77 1/1 99 250 0 250 1.0 intronic rs162430 PYY AU NM_004160 exon1 c.25+61G>A 0.365415 0.6627 0.199080 ID=CS035721;DIS=Diabetes, type 2, association with;TAG=DP;PUB=14551916 DP Uncertain 17_42030743_G->C 17 42030743 42030743 G C snp 6576.77 1/1 99 225 0 225 1.0 exonic rs229969 PYY AU nonsynonymous SNV NM_004160 exon5 c.C109G p.R37G 1 1 1.0000 1 1 T 0.0 P -0.955 T 0.0 T 0.0 T Pathogenic 17_42083840_T->C 17 42083840 42083840 T C snp 1527.77 1/1 99 50 0 50 1.0 intronic rs228770 NAGS AR NM_153006 exon4 c.1865-56T>C 0.947085 0.997 Uncertain 17_42085150_T->C 17 42085150 42085150 T C snp 2572.77 1/1 99 86 0 86 1.0 intronic rs228773 NAGS AR NM_153006 exon6 c.3110+9T>C 0.960264 0.999 0.922702 0.9432 0.9995 Uncertain 17_42090587_G->C 17 42090587 42090587 G C snp 93.28 1/1 9 4 0 4 1.0 intronic rs228778 TMEM101 AU NM_032376 exon2 c.1228+64G>C 0.652157 0.9286 Uncertain 17_42152103_G->A 17 42152103 42152103 G A snp 4898.77 1/1 99 187 1 186 0.99 exonic rs3815076 G6PC3 AR synonymous SNV NM_138387 exon3 c.G381A p.T127T 0.269968 0.7093 0.085345 0.1768 0.7288 Uncertain 17_42156471_A->C 17 42156471 42156471 A C snp 2570.77 1/1 99 94 0 94 1.0 intronic rs376816 HDAC5 AU NM_005474 exon4 c.768-40A>C 0.781749 0.9306 0.707058 0.7904 0.9075 Uncertain 17_42157739_C->T 17 42157739 42157739 C T snp 6919.77 1/1 99 250 0 250 1.0 intronic rs850856 HDAC5 AU NM_005474 exon6 c.2025-29C>T 0.769369 0.9256 0.694602 0.7856 0.9060 Uncertain 17_42158310_T->G 17 42158310 42158310 T G snp 1497.77 1/1 99 47 0 47 1.0 intronic rs377963 HDAC5 AU NM_005474 exon7 c.2507+60T>G 0.66274 0.9286 Uncertain 17_42164885_G->C 17 42164885 42164885 G C snp 944.77 0/1 99 110 67 43 0.39 exonic rs228757 HDAC5 AU nonsynonymous SNV NM_001015053 exon13 c.C1782G p.D594E 0.754593 0.8403 0.683223 0.7619 0.8307 1 T 0.000 P -1.015 T 0.0 T 0.0 T Pathogenic 17_42170182_G->- 17 42170182 42170182 G - indel 890.73 1/1 53 49 4 45 0.92 intronic rs398030911 HDAC5 AU NM_005474 exon21 c.14431+8delG 0.9142 0.9495 Uncertain 17_42170289_G->A 17 42170289 42170289 G A snp 71.77 0/1 99 9 6 3 0.33 intronic rs368328 HDAC5 AU NM_005474 exon21 c.14431+115G>A 0.728435 0.8274 Uncertain 17_42171206_T->C 17 42171206 42171206 T C snp 913.77 0/1 99 105 64 41 0.39 splicing rs454192 HDAC5 AU NM_005474 exon24 c.15459+4T>C 0.809704 0.9157 0.741552 0.7999 0.9141 Pathogenic 17_42188311_C->G 17 42188311 42188311 C G snp 273.77 0/1 99 13 4 9 0.69 intronic rs228767 HDAC5 AU NM_001015053 exon25 c.32428+140C>G 0.639577 0.8393 Uncertain 17_42225547_A->C 17 42225547 42225547 A C snp 2590.77 0/1 99 248 140 108 0.44 exonic rs227584 C17orf53 AU nonsynonymous SNV NM_024032 exon3 c.A376C p.T126P 0.576478 0.7589 0.473858 0.4020 0.7852 1 T 0.0 P -0.987 T 0.0 T 0.0 T ID=CM093418;DIS=Hip bone mineral density, association with;TAG=DP;PUB=19079262 DP Pathogenic 17_42232442_C->G 17 42232442 42232442 C G snp 881.77 0/1 99 71 32 39 0.55 intronic rs2246287 C17orf53 AU NM_024032 exon7 c.12796+136C>G 0.576278 0.7589 Uncertain 17_42239349_T->C 17 42239349 42239349 T C snp 2415.77 0/1 99 166 76 90 0.54 UTR3 rs730228 C17orf53 AU 0.534145 0.6944 0.433492 0.3910 0.7306 Uncertain 17_42248346_A->T 17 42248346 42248346 A T snp 2518.77 1/1 99 107 0 107 1.0 exonic rs7218599 ASB16 AU nonsynonymous SNV NM_080863 exon1 c.A189T p.Q63H 0.926518 0.9881 0.898508 0.8813 0.9925 0.55 T 0.000 P -0.992 T 0.0 T 0.0 T Pathogenic 17_42254011_C->G 17 42254011 42254011 C G snp 1298.77 0/1 99 120 65 55 0.46 ncRNA_exonic;splicing rs7220138 ASB16-AS1;ASB16-AS1 UN 0.520168 0.752 0.416269 0.3854 0.7822 Uncertain 17_42254281_A->G 17 42254281 42254281 A G snp 997.77 0/1 99 91 49 42 0.46 exonic rs7212573 ASB16 AU nonsynonymous SNV NM_080863 exon3 c.A745G p.T249A 0.517971 0.752 0.394496 0.4497 0.7908 0 D 0.000 P -0.951 T 0.0 T 0.0 T Pathogenic 17_42254417_A->G 17 42254417 42254417 A G snp 386.77 0/1 99 42 27 15 0.36 exonic rs7212854 ASB16 AU nonsynonymous SNV NM_080863 exon3 c.A881G p.N294S 0.454273 0.6925 0.159879 0.2866 0.675 0.17 T 0.998 P -0.903 T 0.126 T 0.077 T Pathogenic 17_42254527_T->G 17 42254527 42254527 T G snp 435.77 0/1 99 57 35 22 0.39 exonic rs7217858 ASB16 AU nonsynonymous SNV NM_080863 exon3 c.T991G p.S331A 0.519169 0.752 0.360722 0.4662 0.8232 0.31 T 0.0 P -0.987 T 0.0 T 0.0 T Pathogenic 17_42255097_T->C 17 42255097 42255097 T C snp 2795.77 0/1 99 205 90 115 0.56 ncRNA_exonic rs3826412 ASB16-AS1 AU 0.573682 0.752 0.472782 0.4036 0.7824 Uncertain 17_42264962_A->G 17 42264962 42264962 A G snp 2797.77 1/1 99 95 0 95 1.0 UTR5 rs4793082 TMUB2 AU 0.997604 1 Uncertain 17_42266224_G->C 17 42266224 42266224 G C snp 391.77 1/1 30 10 0 10 1.0 intronic rs8073555 TMUB2 AU NM_001076674 exon3 c.1313-165G>C 0.919529 0.9891 Uncertain 17_42267949_G->A 17 42267949 42267949 G A snp 2962.77 0/1 99 250 126 124 0.5 exonic rs9895154 TMUB2 AU nonsynonymous SNV NM_024107 exon3 c.G623A p.R208H 0.0459265 0.0476 0.040520 0.0191 0.0497 0.21 T 0.907 N -1.153 T 0.808 T 0.413 P Pathogenic 17_42268274_C->T 17 42268274 42268274 C T snp 1630.77 1/1 99 53 0 53 1.0 UTR3 rs757430 TMUB2 AU 0.929113 0.997 0.901968 0.8859 0.9949 Uncertain 17_42287519_C->T 17 42287519 42287519 C T snp 1484.77 0/1 99 145 83 62 0.43 exonic rs2071167 UBTF AU synonymous SNV NM_001076683 exon14 c.G1488A p.K496K 0.451478 0.6915 0.346686 0.3232 0.7153 Uncertain 17_42289872_A->G 17 42289872 42289872 A G snp 60.77 0/1 89 19 13 6 0.32 intronic rs773555115 UBTF AU NM_014233 exon14 c.5213+50A>G 0.0014 0 Uncertain 17_42294198_G->C 17 42294198 42294198 G C snp 1146.77 0/1 99 64 19 45 0.7 intronic rs2269908 UBTF AU NM_014233 exon19 c.9463+126G>C 0.590855 0.753 Uncertain 17_42294215_G->A 17 42294215 42294215 G A snp 837.77 0/1 99 44 13 31 0.7 intronic rs2269907 UBTF AU NM_014233 exon19 c.9463+143G>A 0.590855 0.753 Uncertain 17_42329004_A->C 17 42329004 42329004 A C snp 828.77 0/1 99 75 41 34 0.45 intronic rs13306780 SLC4A1 AR,AD,AU NM_000342 exon3 c.1131+48A>C 0.488818 0.247 0.579325 0.6271 0.2389 Uncertain 17_42332152_T->C 17 42332152 42332152 T C snp 43.77 0/1 72 5 2 3 0.6 intronic SLC4A1 AR,AD,AU NM_000342 exon5 c.4205+122T>C Uncertain 17_42337091_C->T 17 42337091 42337091 C T snp 1061.77 0/1 99 110 67 43 0.39 intronic rs2857082 SLC4A1 AR,AD,AU NM_000342 exon14 c.9351-85C>T 0.307708 0.623 Uncertain 17_42386316_C->G 17 42386316 42386316 C G snp 1682.77 0/1 99 137 68 69 0.5 intronic rs144462046 RUNDC3A AU NM_006695 exon1 c.107+9C>G 0.0183706 0.0288 0.012433 0.0208 0.0460 Uncertain 17_42392077_T->C 17 42392077 42392077 T C snp 1022.77 1/1 75 34 0 34 1.0 intronic rs68030960 RUNDC3A AU NM_006695 exon5 c.5902-25T>C 0.675919 0.9256 0.484851 0.5678 0.9264 Uncertain 17_42392622_T->C 17 42392622 42392622 T C snp 4363.77 1/1 99 168 0 168 1.0 exonic rs708386 RUNDC3A AU synonymous SNV NM_001144825 exon7 c.T729C p.D243D 0.63139 0.9097 0.434303 0.5030 0.9102 Uncertain 17_42398052_A->G 17 42398052 42398052 A G snp 3780.77 1/1 99 132 0 132 1.0 exonic rs2011951 SLC25A39 AU nonsynonymous SNV NM_001143780 exon9 c.T739C p.F247L 0.68111 0.9266 0.503921 0.5225 0.9245 0.74 T 0.0 P -0.971 T 0.0 T 0.0 T Pathogenic 17_42398757_C->A 17 42398757 42398757 C A snp 5558.77 1/1 99 189 0 189 1.0 intronic rs2011895 SLC25A39 AU NM_016016 exon6 c.1433-44C>A 0.68111 0.9266 0.502153 0.5252 0.9244 Uncertain 17_42400329_C->T 17 42400329 42400329 C T snp 298.77 0/1 99 20 10 10 0.5 intronic rs112560326 SLC25A39 AU NM_016016 exon9 c.2852+109C>T 0.0974441 0.2847 Uncertain 17_42449789_G->A 17 42449789 42449789 G A snp 2100.77 0/1 99 189 99 90 0.48 exonic rs5910 ITGA2B AR,AD,AU synonymous SNV NM_000419 exon30 c.C3063T p.V1021V 0.397364 0.4484 0.382439 0.3869 0.4263 Uncertain 17_42453065_A->C 17 42453065 42453065 A C snp 1453.77 0/1 99 136 69 67 0.49 exonic rs5911 ITGA2B AR,AD,AU nonsynonymous SNV NM_000419 exon26 c.T2621G p.I874S 0.400359 0.4563 0.379605 0.4359 0.4753 0.66 T 1.000 P -0.918 T 0.001 T 0.0 T CLINSIG=other;CLNDBN=Bak_platelet-specific_antigen;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000003025.2;CLNDSDB=.;CLNDSDBID=. ID=CM994214;DIS=Reduced post-stroke mortality, association with;TAG=DP;PUB=10582985 DP Pathogenic 17_42454270_T->C 17 42454270 42454270 T C snp 74.77 0/1 99 8 5 3 0.38 intronic rs850731 ITGA2B AR,AD,AU NM_000419 exon9 c.4645-106T>C 0.52496 0.4563 Uncertain 17_42454463_G->C 17 42454463 42454463 G C snp 1106.77 0/1 99 101 50 51 0.5 intronic rs850730 ITGA2B AR,AD,AU NM_000419 exon9 c.4725+7G>C 0.397364 0.4563 0.377906 0.4255 0.4910 Uncertain 17_42455023_GAGCCCCTG->- 17 42455023 42455031 GAGCCCCTG - indel 457.73 0/1 99 10 5 5 0.5 intronic rs25552 ITGA2B AR,AD,AU NM_000419 exon10 c.5334-42_5334-34delGAGCCCCTG 0.394169 0.4534 0.365246 0.3824 0.4207 Uncertain 17_42634736_C->T 17 42634736 42634736 C T snp 108.77 0/1 99 10 6 4 0.4 upstream FZD2 AU Uncertain 17_42751604_A->G 17 42751604 42751604 A G snp 163.77 0/1 99 10 3 7 0.7 UTR3 rs77266579 C17orf104 AU 0.0179712 0.0367 0.0166 0.0477 Uncertain 17_42751607_C->T 17 42751607 42751607 C T snp 159.77 0/1 99 10 3 7 0.7 UTR3 rs6416902 C17orf104 AU 0.867013 0.8601 0.888256 0.8980 0.8506 Uncertain 17_42786213_G->C 17 42786213 42786213 G C snp 722.77 0/1 99 72 43 29 0.4 splicing rs61749923 DBF4B AU NM_145663 exon1 c.19+6G>C 0.154553 0.0794 0.122936 0.1991 0.0870 Pathogenic 17_42824402_C->A 17 42824402 42824402 C A snp 1596.77 0/1 99 164 90 74 0.45 intronic rs4793144 DBF4B AU NM_145663 exon11 c.38262-48C>A 0.419529 0.5714 0.4624 0.7037 Uncertain 17_42824648_T->C 17 42824648 42824648 T C snp 852.77 1/1 63 22 0 22 1.0 intronic rs9893320 DBF4B AU NM_145663 exon11 c.38371+89T>C 0.919129 0.876 Uncertain 17_42824731_G->A 17 42824731 42824731 G A snp 513.77 0/1 99 83 57 26 0.31 intronic rs9912745 DBF4B AU NM_145663 exon12 c.38570-27G>A 0.471446 0.7232 0.383977 0.4735 0.7158 Uncertain 17_42846994_T->C 17 42846994 42846994 T C snp 267.8 1/1 21 7 0 7 1.0 intronic rs8070918 ADAM11 AU NM_002390 exon3 c.10518-91T>C 0.908746 0.878 Uncertain 17_42847033_C->G 17 42847033 42847033 C G snp 166.77 0/1 99 20 13 7 0.35 intronic rs58726064 ADAM11 AU NM_002390 exon3 c.10518-52C>G 0.460064 0.7232 0.378887 Uncertain 17_42850352_T->C 17 42850352 42850352 T C snp 2823.77 0/1 99 225 107 118 0.52 intronic rs68017435 ADAM11 AU NM_002390 exon10 c.13814-29T>C 0.323882 0.1915 0.325850 0.3459 0.1846 Uncertain 17_42851634_G->A 17 42851634 42851634 G A snp 140.03 1/1 12 7 0 7 1.0 intronic rs62066014 ADAM11 AU NM_002390 exon12 c.15095-28G>A 0.648562 0.7708 0.597831 0.6357 0.7271 Uncertain 17_42851729_C->T 17 42851729 42851729 C T snp 1703.77 1/1 99 55 0 55 1.0 exonic rs35936481 ADAM11 AU synonymous SNV NM_002390 exon12 c.C1059T p.H353H 0.645567 0.7708 0.590170 0.6774 0.7772 Uncertain 17_42852604_G->T 17 42852604 42852604 G T snp 4738.77 1/1 99 178 1 177 0.99 exonic rs1558083 ADAM11 AU synonymous SNV NM_002390 exon15 c.G1245T p.S415S 0.645567 0.7688 0.580501 0.6412 0.7774 Uncertain 17_42852610_T->C 17 42852610 42852610 T C snp 4931.77 1/1 99 178 0 178 1.0 exonic rs1558084 ADAM11 AU synonymous SNV NM_002390 exon15 c.T1251C p.C417C 0.904952 0.874 0.894818 0.8922 0.8634 Uncertain 17_42853427_A->G 17 42853427 42853427 A G snp 1704.77 1/1 99 56 0 56 1.0 intronic rs4792955 ADAM11 AU NM_002390 exon18 c.16927-67A>G 0.65016 0.7698 Uncertain 17_42853694_C->T 17 42853694 42853694 C T snp 2063.77 0/1 99 156 72 84 0.54 intronic rs4793151 ADAM11 AU NM_002390 exon18 c.17008+119C>T 0.460663 0.7242 Uncertain 17_42854053_G->A 17 42854053 42854053 G A snp 421.77 0/1 99 21 7 14 0.67 intronic rs55752145 ADAM11 AU NM_002390 exon19 c.17545-59G>A 0.157548 0.0456 0.174551 Uncertain 17_42854208_G->A 17 42854208 42854208 G A snp 2623.77 0/1 99 238 117 121 0.51 intronic rs1558085 ADAM11 AU NM_002390 exon19 c.17596+45G>A 0.460663 0.7242 0.372828 0.4695 0.7212 Uncertain 17_42854502_G->A 17 42854502 42854502 G A snp 249.77 0/1 99 26 15 11 0.42 intronic rs1558086 ADAM11 AU NM_002390 exon21 c.17966-31G>A 0.460663 0.7242 0.372751 0.4739 0.7209 Uncertain 17_42854610_T->C 17 42854610 42854610 T C snp 2085.77 1/1 99 84 0 84 1.0 exonic rs8075210 ADAM11 AU synonymous SNV NM_002390 exon21 c.T1758C p.S586S 0.645367 0.7698 0.580271 0.6412 0.7764 Uncertain 17_42855248_T->C 17 42855248 42855248 T C snp 5755.77 1/1 99 185 0 185 1.0 intronic rs2070603 ADAM11 AU NM_002390 exon23 c.18664+17T>C 0.645367 0.7698 0.579502 0.6410 0.7762 Uncertain 17_42855472_T->C 17 42855472 42855472 T C snp 4584.77 1/1 99 171 3 168 0.98 intronic rs2070604 ADAM11 AU NM_002390 exon24 c.18867+38T>C 0.669529 0.7708 0.634400 0.6946 0.7768 Uncertain 17_42855554_T->C 17 42855554 42855554 T C snp 2526.77 1/1 99 85 2 83 0.98 exonic rs2070605 ADAM11 AU synonymous SNV NM_002390 exon25 c.T2220C p.I740I 0.645367 0.7698 0.580040 0.6433 0.7780 Uncertain 17_42857430_G->A 17 42857430 42857430 G A snp 7396.77 1/1 99 248 0 248 1.0 UTR3 rs35504352 ADAM11 AU 0.645367 0.7698 0.6679 0.7885 Uncertain 17_42857517_C->T 17 42857517 42857517 C T snp 4332.77 1/1 99 145 0 145 1.0 UTR3 rs16970986 ADAM11 AU 0.645367 0.7698 0.6680 0.8020 Uncertain 17_42925559_C->T 17 42925559 42925559 C T snp 1473.77 1/1 99 55 0 55 1.0 exonic rs12164 HIGD1B AU synonymous SNV NM_016438 exon1 c.C39T p.D13D 0.652556 0.5446 0.676688 0.6287 0.5534 Uncertain 17_42926773_G->T 17 42926773 42926773 G T snp 1727.77 0/1 99 137 66 71 0.52 intronic rs2231646 HIGD1B AU NM_016438 exon2 c.1236+17G>T 0.061901 0.0506 0.033907 0.0375 0.0447 Uncertain 17_42927628_A->G 17 42927628 42927628 A G snp 564.77 1/1 42 19 0 19 1.0 intronic rs2231647 HIGD1B AU NM_016438 exon3 c.2179-71A>G 0.680312 0.5506 Uncertain 17_42929970_T->C 17 42929970 42929970 T C snp 926.77 1/1 66 36 0 36 1.0 intronic rs2289673 EFTUD2 AD NM_001258353 exon3 c.1289+40T>C 0.665535 0.5496 0.685068 0.6389 0.5652 Uncertain 17_42930859_G->A 17 42930859 42930859 G A snp 2151.77 0/1 99 211 120 91 0.43 intronic rs78620114 EFTUD2 AD NM_001258353 exon5 c.2243-25G>A 0.0976438 0.1339 0.095264 0.1090 0.1431 Uncertain 17_42932244_C->T 17 42932244 42932244 C T snp 341.77 0/1 99 25 12 13 0.52 intronic rs2289672 EFTUD2 AD NM_001258353 exon8 c.3644-41C>T 0.13738 0.1369 0.152007 0.1165 0.1473 Uncertain 17_42934372_A->G 17 42934372 42934372 A G snp 820.77 1/1 60 25 0 25 1.0 intronic rs6503405 EFTUD2 AD NM_001258353 exon9 c.5801-70A>G 0.696885 0.5645 Uncertain 17_42934415_T->C 17 42934415 42934415 T C snp 818.77 0/1 99 54 24 30 0.56 intronic rs58089352 EFTUD2 AD NM_001258353 exon9 c.5801-27T>C 0.13119 0.0843 0.083269 0.0744 0.0792 Uncertain 17_42934694_T->C 17 42934694 42934694 T C snp 1331.77 1/1 96 41 0 41 1.0 intronic rs2277615 EFTUD2 AD NM_001258353 exon9 c.5884+169T>C 0.702276 0.5595 Uncertain 17_42940059_C->T 17 42940059 42940059 C T snp 707.77 0/1 99 43 19 24 0.56 intronic rs57404744 EFTUD2 AD NM_001258353 exon13 c.11439-21C>T 0.100439 0.0853 0.034292 0.0833 0.0990 Uncertain 17_42945296_A->G 17 42945296 42945296 A G snp 2423.77 1/1 99 89 0 89 1.0 intronic rs2120276 EFTUD2 AD NM_001258353 exon16 c.16624+31A>G 0.668131 0.5565 0.683975 0.6730 0.5909 Uncertain 17_42945867_A->G 17 42945867 42945867 A G snp 2975.77 1/1 99 96 0 96 1.0 intronic rs3785890 EFTUD2 AD NM_001258353 exon17 c.17077+149A>G 0.702077 0.5565 0.6981 0.6401 Uncertain 17_42953409_A->G 17 42953409 42953409 A G snp 450.77 0/1 99 44 24 20 0.45 exonic rs2289674 EFTUD2 AD synonymous SNV NM_004247 exon10 c.T762C p.T254T 0.170527 0.1369 0.219514 0.1743 0.1476 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000116955.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 17_42957139_C->T 17 42957139 42957139 C T snp 1563.77 1/1 99 53 0 53 1.0 intronic rs2289676 EFTUD2 AD NM_001258353 exon20 c.28365+133C>T 0.67512 0.5575 Uncertain 17_42957855_A->G 17 42957855 42957855 A G snp 1769.77 1/1 99 69 0 69 1.0 intronic rs1443463 EFTUD2 AD NM_001258353 exon21 c.29280-66A>G 0.667532 0.5575 Uncertain 17_42961009_C->T 17 42961009 42961009 C T snp 1616.77 0/1 99 175 96 79 0.45 intronic rs2289677 EFTUD2 AD NM_001258353 exon24 c.32375-7C>T 0.560503 0.4712 0.643088 0.5693 0.4919 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000116954.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 17_42962568_C->T 17 42962568 42962568 C T snp 2445.77 0/1 99 241 121 120 0.5 intronic rs3803870 EFTUD2 AD NM_001258353 exon25 c.33982-55C>T 0.0746805 0.0516 0.032413 Uncertain 17_42962793_T->C 17 42962793 42962793 T C snp 379.77 0/1 99 25 13 12 0.48 intronic rs75343286 EFTUD2 AD NM_001258353 exon25 c.34061+91T>C 0.104633 0.0863 Uncertain 17_42979592_G->A 17 42979592 42979592 G A snp 964.77 0/1 99 57 23 34 0.6 intronic rs12451394 CCDC103 AR NM_001258397 exon4 c.1319-93G>A 0.169129 0.1369 Uncertain 17_42981114_C->T 17 42981114 42981114 C T snp 56.74 1/1 6 2 0 2 1.0 downstream rs60238918 CCDC103 AR 0.0978435 0.0853 Uncertain 17_42985210_A->C 17 42985210 42985210 A C snp 706.77 0/1 99 57 29 28 0.49 intronic rs74378074 GFAP AD NM_002055 exon2 c.717-221A>C 0.102636 0.0853 0.1099 0.0949 Uncertain 17_42989063_C->T 17 42989063 42989063 C T snp 574.77 0/1 99 81 53 28 0.35 exonic rs1126642 GFAP AD nonsynonymous SNV NM_001131019 exon5 c.G883A p.D295N 0.0573083 0.1359 0.032457 0.0453 0.1467 0 D 1.000 P -0.651 T 1.0 D 0.98 D CLINSIG=untested;CLNDBN=not_provided;CLNREVSTAT=no_assertion_provided;CLNACC=RCV000056913.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Pathogenic 17_42989088_C->T 17 42989088 42989088 C T snp 809.77 0/1 99 104 66 38 0.37 exonic rs2289681 GFAP AD synonymous SNV NM_001131019 exon5 c.G858A p.R286R 0.140775 0.1359 0.156082 0.1163 0.1469 CLINSIG=untested;CLNDBN=not_provided;CLNREVSTAT=no_assertion_provided;CLNACC=RCV000056912.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Uncertain 17_43004541_G->T 17 43004541 43004541 G T snp 105.77 0/1 99 26 20 6 0.23 intronic rs8079709 KIF18B AU NM_001265577 exon3 c.999+95G>T 0.0644968 0.1329 Uncertain 17_43101701_GTGTGTGG->- 17 43101701 43101708 GTGTGTGG - indel 931.73 1/1 54 18 0 18 1.0 UTR3 rs763548769 DCAKD AU Uncertain 17_43111162_A->G 17 43111162 43111162 A G snp 980.77 0/1 99 67 29 38 0.57 intronic rs9303432 DCAKD AU NM_001288655 exon3 c.9754-392A>G 0.971246 0.8621 Uncertain 17_43111688_G->A 17 43111688 43111688 G A snp 3468.77 0/1 99 236 89 147 0.62 exonic rs9900173 DCAKD AU synonymous SNV NM_024819 exon3 c.C183T p.N61N 0.255791 0.2738 0.296171 0.2947 0.2510 Uncertain 17_43170907_C->T 17 43170907 43170907 C T snp 896.77 0/1 99 72 37 35 0.49 intronic rs2239921 NMT1 AU NM_021079 exon4 c.32355-145C>T 0.913538 0.7421 Uncertain 17_43176804_C->T 17 43176804 43176804 C T snp 1838.77 0/1 99 163 80 83 0.51 exonic rs2239923 NMT1 AU synonymous SNV NM_021079 exon8 c.C916T p.L306L 0.224042 0.2748 0.222436 0.2516 0.2472 Uncertain 17_43181287_A->G 17 43181287 43181287 A G snp 4026.77 1/1 99 138 0 138 1.0 intronic rs4793167 NMT1 AU NM_021079 exon10 c.42547+43A>G 0.989816 1 0.980855 0.9786 1 Uncertain 17_43183028_G->A 17 43183028 43183028 G A snp 1911.77 1/1 99 70 0 70 1.0 UTR3 rs1053733 NMT1 AU 0.50599 0.7946 0.400815 0.4574 0.7698 Uncertain 17_43183108_G->A 17 43183108 43183108 G A snp 429.77 1/1 33 12 0 12 1.0 UTR3 rs1053739 NMT1 AU 0.310304 0.5278 Uncertain 17_43191099_T->C 17 43191099 43191099 T C snp 301.78 1/1 24 9 0 9 1.0 intronic rs2864881 PLCD3 AU NM_133373 exon4 c.990+126T>C 0.791334 0.9355 Uncertain 17_43192549_-->C 17 43192549 43192549 - C indel 3059.73 1/1 99 74 0 74 1.0 exonic rs35911033 PLCD3 AU unknown 0.9998 1 0.999666 0.9969 1 Uncertain 17_43192681_C->A 17 43192681 43192681 C A snp 360.77 0/1 99 61 36 25 0.41 intronic rs713102 PLCD3 AU NM_133373 exon7 c.2727-29C>A 0.200879 0.2669 0.167836 0.2663 0.2654 Uncertain 17_43192821_A->G 17 43192821 43192821 A G snp 1532.77 1/1 99 58 0 58 1.0 exonic rs713101 PLCD3 AU unknown 0.543331 0.6746 0.544369 0.5748 0.6940 Uncertain 17_43195981_T->C 17 43195981 43195981 T C snp 34.77 0/1 63 5 3 2 0.4 intronic rs3744760 PLCD3 AU NM_133373 exon10 c.5876+122T>C 0.419329 0.5565 Uncertain 17_43196546_G->A 17 43196546 43196546 G A snp 1200.77 0/1 99 84 41 43 0.51 intronic rs4362432 PLCD3 AU NM_133373 exon11 c.6427+136G>A 0.113019 0.2192 Uncertain 17_43196584_T->C 17 43196584 43196584 T C snp 426.77 0/1 99 32 16 16 0.5 intronic rs12603813 PLCD3 AU NM_133373 exon11 c.6427+174T>C 0.201478 0.2252 Uncertain 17_43198166_-->G 17 43198166 43198166 - G indel 1262.73 1/1 99 33 0 33 1.0 intronic rs11382448 PLCD3 AU NM_133373 exon13 c.8285-102insG 1 1 Uncertain 17_43213772_A->C 17 43213772 43213772 A C snp 3747.77 1/1 99 118 0 118 1.0 intronic rs2306828 ACBD4 AU NM_001135706 exon3 c.355-94A>C 0.867612 0.9206 Uncertain 17_43219912_A->G 17 43219912 43219912 A G snp 52.77 0/1 33 6 2 4 0.67 intronic rs72628318 ACBD4 AU NM_001135707 exon10 c.6438-37A>G 0.135383 0.3036 0.0963 0.2982 Uncertain 17_43226887_A->G 17 43226887 43226887 A G snp 2510.77 0/1 99 249 150 99 0.4 exonic rs12051846 HEXIM1 AU synonymous SNV NM_006460 exon1 c.A330G p.E110E 0.198882 0.2183 0.168028 0.2407 0.2035 Uncertain 17_43227214_T->C 17 43227214 43227214 T C snp 3227.04 0/1 99 250 116 134 0.54 exonic rs1044977 HEXIM1 AU synonymous SNV NM_006460 exon1 c.T657C p.D219D 0.198682 0.2183 0.186837 0.2275 0.1947 Uncertain 17_43227766_-->TTGG 17 43227766 43227766 - TTGG indel 1234.73 1/1 57 35 0 35 1.0 UTR3 rs71136073 HEXIM1 AU 0.995208 0.998 Uncertain 17_43316520_T->C 17 43316520 43316520 T C snp 1659.77 1/1 99 47 0 47 1.0 intronic rs1023995 FMNL1 AU NM_005892 exon11 c.16941+88T>C 0.712061 0.5456 Uncertain 17_43318778_G->C 17 43318778 43318778 G C snp 1465.77 1/1 71 56 1 55 0.98 exonic rs7218169 FMNL1 AU synonymous SNV NM_005892 exon14 c.G1362C p.G454G 0.987819 0.994 0.994998 1 1 Uncertain 17_43318779_C->G 17 43318779 43318779 C G snp 1450.77 1/1 72 55 1 54 0.98 exonic rs7219366 FMNL1 AU nonsynonymous SNV NM_005892 exon14 c.C1363G p.P455A 0.988818 0.994 0.995075 1 1 0.77 T 0.0 P -1.009 T 0.0 T 0.0 T Pathogenic 17_43319770_C->T 17 43319770 43319770 C T snp 2277.77 1/1 99 84 0 84 1.0 exonic rs1801353 FMNL1 AU synonymous SNV NM_005892 exon16 c.C1948T p.L650L 0.321086 0.2837 0.385284 0.4290 0.2938 Uncertain 17_43333125_C->T 17 43333125 43333125 C T snp 7024.77 1/1 99 248 0 248 1.0 exonic rs11651968 SPATA32 AU nonsynonymous SNV NM_152343 exon4 c.G424A p.V142M 0.311102 0.3046 0.356066 0.4067 0.3239 0.21 T 0.0 P -1.026 T 0.894 T 0.247 P Pathogenic 17_43333786_AGAC->- 17 43333786 43333789 AGAC - indel 1898.73 0/1 99 81 47 34 0.42 splicing rs548780248 SPATA32 AU NM_152343 exon3 c.1990+4_1990+7delAGAC 0.374201 0.2837 0.445288 0.4511 0.2932 Pathogenic 17_43334649_C->A 17 43334649 43334649 C A snp 497.77 0/1 99 61 35 26 0.43 ncRNA_intronic rs60163605 MAP3K14-AS1 AU 0.358626 0.2788 0.421156 Uncertain 17_43334653_T->C 17 43334653 43334653 T C snp 498.77 0/1 99 59 33 26 0.44 ncRNA_intronic rs58314091 MAP3K14-AS1 AU 0.358626 0.2788 Uncertain 17_43342141_G->C 17 43342141 43342141 G C snp 1200.77 0/1 99 108 52 56 0.52 exonic rs1047833 MAP3K14 AU unknown 0.718251 0.7073 0.747087 0.7173 0.7308 Uncertain 17_43342306_C->A 17 43342306 43342306 C A snp 98.77 0/1 99 15 10 5 0.33 ncRNA_intronic rs2285674 MAP3K14-AS1 AU 0.478634 0.5159 Uncertain 17_43344073_G->A 17 43344073 43344073 G A snp 1483.77 0/1 99 135 65 70 0.52 ncRNA_intronic rs2074293 MAP3K14-AS1 AU 0.538938 0.619 0.558992 0.5835 0.6359 Uncertain 17_43350817_G->T 17 43350817 43350817 G T snp 272.77 0/1 99 37 23 14 0.38 intronic rs544735072 MAP3K14 AU NM_003954 exon8 c.8867-52G>T 0.00139776 0.0069 Uncertain 17_43351127_G->C 17 43351127 43351127 G C snp 669.77 0/1 99 61 37 24 0.39 intronic rs2072090 MAP3K14 AU NM_003954 exon8 c.8972+153G>C 0.504593 0.5079 0.5324 0.5429 Uncertain 17_43364293_-->G 17 43364293 43364293 - G indel 10522.7 1/1 99 250 0 250 1.0 exonic rs386386166 MAP3K14 AU unknown 1 1 0.999828 1.0000 1 Uncertain 17_43474440_C->G 17 43474440 43474440 C G snp 782.77 0/1 99 64 33 31 0.48 intronic rs1230095 ARHGAP27 AU NM_199282 exon7 c.1569+50C>G 0.366014 0.5625 0.291942 0.3428 0.5434 Uncertain 17_43507008_G->C 17 43507008 43507008 G C snp 2272.77 0/1 99 186 96 90 0.48 intergenic ARHGAP27 AU 0.619609 0.4425 0.722359 0.6868 0.5208 0.4 T 0.0 P -0.969 T 0.0 T 0.001 T Uncertain 17_43507445_C->T 17 43507445 43507445 C T snp 516.77 0/1 99 37 18 19 0.51 intergenic ARHGAP27 AU 0.000399361 0.002 0.0002 0 Uncertain 17_43516738_A->C 17 43516738 43516738 A C snp 112.77 0/1 99 23 17 6 0.26 intergenic ARHGAP27 AU 0.669529 0.4454 Uncertain 17_43530550_G->A 17 43530550 43530550 G A snp 77.77 0/1 99 8 3 5 0.63 intergenic ARHGAP27 AU 0.440296 0.4385 Uncertain 17_43553150_T->C 17 43553150 43553150 T C snp 1714.77 0/1 99 150 76 74 0.49 upstream MIR4315-2 AU 0.49361 0.4385 Uncertain 17_43910455_G->A 17 43910455 43910455 G A snp 3746.77 1/1 99 138 0 138 1.0 intergenic MIR4315-2 AU 0.639776 0.8115 0.540432 0.6292 0.8189 Uncertain 17_43910653_T->C 17 43910653 43910653 T C snp 1901.77 1/1 99 54 0 54 1.0 intergenic MIR4315-2 AU 0.915136 1 Uncertain 17_43912294_G->A 17 43912294 43912294 G A snp 254.77 0/1 99 24 13 11 0.46 intergenic MIR4315-2 AU 0.0938498 0.2361 Uncertain 17_43923180_G->A 17 43923180 43923180 G A snp 2279.77 0/1 99 210 113 97 0.46 intergenic MIR4315-2 AU 0.609225 0.7986 0.501768 0.6209 0.8090 0.18 T 0.000 P -1.016 T 0.026 T 0.021 T Uncertain 17_43923898_A->G 17 43923898 43923898 A G snp 4400.77 1/1 99 131 0 131 1.0 intergenic MIR4315-2 AU 0.885383 1 0.841919 0.9058 0.9997 Uncertain 17_43924412_T->C 17 43924412 43924412 T C snp 1481.77 1/1 99 42 0 42 1.0 intergenic MIR4315-2 AU 0.853834 0.9345 Uncertain 17_44061025_C->T 17 44061025 44061025 C T snp 1702.77 0/1 99 171 87 84 0.49 exonic rs63750222 MAPT AR,AD,AO synonymous SNV NM_001123066 exon6 c.C855T p.D285D 0.109625 0.2054 0.095417 0.1232 0.2166 CLINSIG=untested;CLNDBN=not_provided;CLNREVSTAT=no_assertion_provided;CLNACC=RCV000084504.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Uncertain 17_44067382_T->C 17 44067382 44067382 T C snp 3978.77 1/1 99 133 0 133 1.0 exonic rs2258689 MAPT AR,AD,AO nonsynonymous SNV NM_001123066 exon8 c.T1321C p.Y441H 0.312899 0.628 0.181301 0.2752 0.6411 0.26 T 1.000 P -0.978 T 0.001 T 0.001 T CLINSIG=untested;CLNDBN=not_provided;CLNREVSTAT=no_assertion_provided;CLNACC=RCV000084507.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Pathogenic 17_44067847_G->T 17 44067847 44067847 G T snp 141.03 1/1 12 5 0 5 1.0 intronic rs2435213 MAPT AR,AD,AO NM_016835 exon8 c.27738+406G>T 0.289537 0.6022 0.3189 0.5606 Uncertain 17_44077044_T->C 17 44077044 44077044 T C snp 2418.77 1/1 99 88 0 88 1.0 intronic rs71375329 MAPT AR,AD,AO NM_001203251 exon7 c.34327+3014T>C 0.964058 0.999 0.964859 0.9909 0.9981 Uncertain 17_44091780_G->A 17 44091780 44091780 G A snp 1005.77 1/1 75 28 0 28 1.0 intronic rs66499584 MAPT AR,AD,AO NM_001203251 exon8 c.51987+90G>A 0.214856 0.495 Uncertain 17_44109843_A->G 17 44109843 44109843 A G snp 379.77 1/1 30 11 0 11 1.0 intronic rs1078997 KANSL1 AD NM_001193465 exon2 c.824+178A>G 0.205671 0.4831 Uncertain 17_44144013_C->T 17 44144013 44144013 C T snp 819.77 0/1 99 76 38 38 0.5 exonic rs117412152 KANSL1 AD nonsynonymous SNV NM_001193466 exon6 c.G1738A p.V580I 0.00319489 0.0109 0.000538 0.0011 0.0106 0.28 T 1 D -1.157 T 0.997 D 0.913 D Pathogenic 17_44144993_C->G 17 44144993 44144993 C G snp 5337.77 1/1 99 196 0 196 1.0 exonic rs144838667 KANSL1 AD nonsynonymous SNV NM_001193466 exon5 c.G1574C p.R525P 0.999401 1 0.998924 0.9997 1 0.51 T 0.000 P -0.982 T 0.001 T 0.0 T Pathogenic 17_44336866_T->C 17 44336866 44336866 T C snp 779.77 1/1 57 27 0 27 1.0 intergenic KANSL1 AD 0.917732 1 Uncertain 17_44336976_C->T 17 44336976 44336976 C T snp 1411.77 1/1 99 53 0 53 1.0 intergenic KANSL1 AD 0.825679 0.996 Uncertain 17_44408776_T->C 17 44408776 44408776 T C snp 97.03 1/1 12 15 0 15 1.0 exonic rs273532 LRRC37A AU nonsynonymous SNV NM_014834 exon9 c.T4133C p.L1378P 0.0010 0.0016 0.95 T 1.000 N -1.053 T 0.0 T 0.0 T Pathogenic 17_44408795_G->A 17 44408795 44408795 G A snp 269.8 1/1 21 24 1 23 0.96 exonic rs2667848 LRRC37A AU synonymous SNV NM_014834 exon9 c.G4152A p.E1384E 0.370407 0.1746 0.0086 0.0020 Uncertain 17_44632540_T->C 17 44632540 44632540 T C snp 811.77 1/1 81 59 0 59 1.0 intronic rs144051917 ARL17A AU NM_001288813 exon2 c.41907-15584T>C 0.715256 0.5754 0.9376 0.6663 1 T 0.0 P -0.978 T 0.0 T 0.0 T Uncertain 17_44788253_G->A 17 44788253 44788253 G A snp 133.03 1/1 12 5 0 5 1.0 intronic rs78850923 NSF AU NM_006178 exon14 c.120187-75G>A 0.970847 1 Uncertain 17_44929325_C->A 17 44929325 44929325 C A snp 88.28 1/1 9 3 0 3 1.0 intronic rs56344308 WNT9B AU NM_003396 exon1 c.77+244C>A 0.207668 0.379 Uncertain 17_44950122_T->C 17 44950122 44950122 T C snp 287.77 0/1 99 32 15 17 0.53 exonic rs4968281 WNT9B AU nonsynonymous SNV NM_003396 exon2 c.T317C p.M106T 0.707069 0.4643 0.791454 0.7147 0.4460 0.0 P -0.995 T 0.0 T 0.0 T Pathogenic 17_44950237_G->A 17 44950237 44950237 G A snp 59.74 1/1 6 3 0 3 1.0 intronic rs11654422 WNT9B AU NM_003396 exon2 c.21135+98G>A 0.296725 0.4514 Uncertain 17_44952374_T->C 17 44952374 44952374 T C snp 3615.77 0/1 99 250 111 139 0.56 intronic rs376037136 WNT9B AU NM_003396 exon3 c.23462-92T>C 0.00159744 0.0079 0.0007 0.0086 0.04 T 1 N -0.973 T Uncertain 17_45000529_G->C 17 45000529 45000529 G C snp 1228.77 0/1 99 135 81 54 0.4 UTR5 rs189899 GOSR2 AR 0.373203 0.4226 0.300227 0.3961 0.4301 CLINSIG=non-pathogenic;CLNDBN=not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000125250.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Uncertain 17_45000547_G->C 17 45000547 45000547 G C snp 4166.77 1/1 99 152 0 152 1.0 UTR5 rs183199 GOSR2 AR 0.953674 1 0.950960 0.9793 1 Uncertain 17_45008570_G->A 17 45008570 45008570 G A snp 757.77 0/1 99 74 40 34 0.46 exonic rs197922 GOSR2 AR nonsynonymous SNV NM_004287 exon3 c.G200A p.R67K 0.346046 0.3621 0.324773 0.3510 0.3688 1 T 0.002 P -0.963 T 0.001 T 0.002 T ID=CM091892;DIS=Hypertension, association with;TAG=DP;PUB=19057520 DP Pathogenic 17_45008742_G->C 17 45008742 45008742 G C snp 270.77 0/1 99 18 7 11 0.61 intronic rs197923 GOSR2 AR NM_004287 exon3 c.8015+169G>C 0.298522 0.3621 Uncertain 17_45012248_T->G 17 45012248 45012248 T G snp 461.77 1/1 36 13 0 13 1.0 intronic rs169126 GOSR2 AR NM_004287 exon5 c.11836-146T>G 1 1 Uncertain 17_45017859_A->G 17 45017859 45017859 A G snp 1082.77 0/1 99 89 45 44 0.49 UTR3 rs758392 GOSR2 AR 0.411342 0.376 0.420718 Uncertain 17_45044147_C->A 17 45044147 45044147 C A snp 862.77 0/1 99 79 42 37 0.47 intergenic rs11079745 GOSR2 AR 0.439896 0.5694 Uncertain 17_45050533_T->C 17 45050533 45050533 T C snp 2055.77 1/1 99 83 0 83 1.0 downstream rs11079746 MIR5089 AU 0.728634 0.8343 Uncertain 17_45209503_G->A 17 45209503 45209503 G A snp 303.78 1/1 24 9 0 9 1.0 intronic rs11570546 CDC27 AU NM_001293091 exon5 c.11322-119G>A 0.197085 0.4762 Uncertain 17_45214283_G->A 17 45214283 45214283 G A snp 70.77 0/1 67 5 2 3 0.6 intronic rs76250140 CDC27 AU NM_001293091 exon6 c.16217-234G>A Uncertain 17_45214316_-->ACG 17 45214316 45214316 - ACG indel 446.73 0/1 99 15 4 11 0.73 intronic rs374897480 CDC27 AU NM_001293091 exon6 c.16217-201insACG Uncertain 17_45214318_T->C 17 45214318 45214318 T C snp 97.77 0/1 99 20 14 6 0.3 intronic rs79259606 CDC27 AU NM_001293091 exon6 c.16217-199T>C Uncertain 17_45214319_T->G 17 45214319 45214319 T G snp 347.77 0/1 99 20 5 15 0.75 intronic rs80202554 CDC27 AU NM_001293091 exon6 c.16217-198T>G Uncertain 17_45214325_T->G 17 45214325 45214325 T G snp 343.77 0/1 99 22 7 15 0.68 intronic rs76575872 CDC27 AU NM_001293091 exon6 c.16217-192T>G Uncertain 17_45214330_A->C 17 45214330 45214330 A C snp 341.77 0/1 99 22 7 15 0.68 intronic rs199588648 CDC27 AU NM_001293091 exon6 c.16217-187A>C Uncertain 17_45214332_T->C 17 45214332 45214332 T C snp 318.77 0/1 99 25 10 15 0.6 intronic rs377129069 CDC27 AU NM_001293091 exon6 c.16217-185T>C Uncertain 17_45214335_A->C 17 45214335 45214335 A C snp 334.77 0/1 99 26 11 15 0.58 intronic rs371540265 CDC27 AU NM_001293091 exon6 c.16217-182A>C Uncertain 17_45214346_A->C 17 45214346 45214346 A C snp 1709.77 0/1 99 72 16 56 0.78 intronic rs144353263 CDC27 AU NM_001293091 exon6 c.16217-171A>C Uncertain 17_45214352_G->A 17 45214352 45214352 G A snp 1710.77 0/1 99 78 22 56 0.72 intronic rs111624338 CDC27 AU NM_001293091 exon6 c.16217-165G>A Uncertain 17_45214356_A->G 17 45214356 45214356 A G snp 1684.77 0/1 99 79 23 56 0.71 intronic rs112067488 CDC27 AU NM_001293091 exon6 c.16217-161A>G Uncertain 17_45214361_A->G 17 45214361 45214361 A G snp 1651.77 0/1 99 82 27 55 0.67 intronic rs112513055 CDC27 AU NM_001293091 exon6 c.16217-156A>G Uncertain 17_45214366_A->G 17 45214366 45214366 A G snp 1596.77 0/1 99 91 35 56 0.62 intronic rs112119468 CDC27 AU NM_001293091 exon6 c.16217-151A>G Uncertain 17_45214373_T->C 17 45214373 45214373 T C snp 3853.77 0/1 99 160 40 120 0.75 intronic rs77659049 CDC27 AU NM_001293091 exon6 c.16217-144T>C Uncertain 17_45214390_G->C 17 45214390 45214390 G C snp 5440.77 0/1 99 214 53 161 0.75 intronic rs77532061 CDC27 AU NM_001293091 exon6 c.16217-127G>C Uncertain 17_45214392_C->G 17 45214392 45214392 C G snp 5365.77 0/1 99 217 56 161 0.74 intronic rs78002830 CDC27 AU NM_001293091 exon6 c.16217-125C>G Uncertain 17_45214398_T->G 17 45214398 45214398 T G snp 6696.77 0/1 99 250 55 195 0.78 intronic rs79972073 CDC27 AU NM_001293091 exon6 c.16217-119T>G Uncertain 17_45214416_A->T 17 45214416 45214416 A T snp 6185.77 0/1 99 240 57 183 0.76 intronic rs187747232 CDC27 AU NM_001293091 exon6 c.16217-101A>T Uncertain 17_45214417_A->T 17 45214417 45214417 A T snp 6224.77 0/1 99 242 60 182 0.75 intronic CDC27 AU NM_001293091 exon6 c.16217-100A>T Uncertain 17_45214418_G->T 17 45214418 45214418 G T snp 6220.77 0/1 99 243 61 182 0.75 intronic CDC27 AU NM_001293091 exon6 c.16217-99G>T Uncertain 17_45214420_A->C 17 45214420 45214420 A C snp 5912.77 0/1 99 248 61 187 0.75 intronic CDC27 AU NM_001293091 exon6 c.16217-97A>C Uncertain 17_45214430_A->G 17 45214430 45214430 A G snp 6255.77 0/1 99 247 59 188 0.76 intronic rs78332669 CDC27 AU NM_001293091 exon6 c.16217-87A>G Uncertain 17_45214434_T->C 17 45214434 45214434 T C snp 6099.77 0/1 99 242 56 186 0.77 intronic rs74648663 CDC27 AU NM_001293091 exon6 c.16217-83T>C Uncertain 17_45214453_A->C 17 45214453 45214453 A C snp 6520.77 0/1 99 250 58 192 0.77 intronic rs76499169 CDC27 AU NM_001293091 exon6 c.16217-64A>C Uncertain 17_45214465_T->C 17 45214465 45214465 T C snp 6403.77 0/1 99 249 63 186 0.75 intronic rs79881964 CDC27 AU NM_001293091 exon6 c.16217-52T>C Uncertain 17_45214466_A->G 17 45214466 45214466 A G snp 6637.77 0/1 99 249 53 196 0.79 intronic rs76285115 CDC27 AU NM_001293091 exon6 c.16217-51A>G Uncertain 17_45214473_A->G 17 45214473 45214473 A G snp 6018.77 0/1 99 245 62 183 0.75 intronic rs146006352 CDC27 AU NM_001293091 exon6 c.16217-44A>G Uncertain 17_45214482_A->C 17 45214482 45214482 A C snp 5922.77 0/1 99 238 64 174 0.73 intronic rs372605318 CDC27 AU NM_001293091 exon6 c.16217-35A>C Uncertain 17_45214486_C->G 17 45214486 45214486 C G snp 5931.77 0/1 99 242 56 186 0.77 intronic rs144880397 CDC27 AU NM_001293091 exon6 c.16217-31C>G Uncertain 17_45214488_A->G 17 45214488 45214488 A G snp 5666.77 0/1 99 242 74 168 0.69 intronic rs147721623 CDC27 AU NM_001293091 exon6 c.16217-29A>G Uncertain 17_45214499_G->A 17 45214499 45214499 G A snp 6218.77 0/1 99 237 55 182 0.77 intronic rs79590719 CDC27 AU NM_001293091 exon6 c.16217-18G>A 0.0583 0.0788 Uncertain 17_45214500_T->C 17 45214500 45214500 T C snp 5971.77 0/1 99 236 61 175 0.74 intronic rs80219523 CDC27 AU NM_001293091 exon6 c.16217-17T>C 0.0318 0.0409 Uncertain 17_45214501_A->G 17 45214501 45214501 A G snp 5696.77 0/1 99 240 76 164 0.68 intronic CDC27 AU NM_001293091 exon6 c.16217-16A>G Uncertain 17_45214510_C->G 17 45214510 45214510 C G snp 6626.77 0/1 99 249 57 192 0.77 intronic rs112530322 CDC27 AU NM_001293091 exon6 c.16217-7C>G 9.415e-06 0 Uncertain 17_45214523_A->C 17 45214523 45214523 A C snp 6149.77 0/1 99 242 51 191 0.79 exonic rs62075617 CDC27 AU nonsynonymous SNV NM_001293091 exon13 c.T1725G p.N575K 0.03 T 1 D -0.482 T 0.913 T 0.606 D Pathogenic 17_45214527_T->C 17 45214527 45214527 T C snp 6230.77 0/1 99 249 45 204 0.82 exonic rs62075618 CDC27 AU nonsynonymous SNV NM_001293091 exon13 c.A1721G p.Y574C 0.4763 0.4817 0 D 1.000 P 0.329 D 0.985 D 0.79 D Pathogenic 17_45214544_T->C 17 45214544 45214544 T C snp 6020.77 0/1 99 250 44 206 0.82 exonic rs62075619 CDC27 AU synonymous SNV NM_001293091 exon13 c.A1704G p.R568R Uncertain 17_45214582_A->G 17 45214582 45214582 A G snp 5888.77 0/1 99 250 36 214 0.86 exonic rs75731161 CDC27 AU synonymous SNV NM_001293091 exon13 c.T1666C p.L556L 0.0001 0.0017 Uncertain 17_45214592_T->G 17 45214592 45214592 T G snp 5590.77 0/1 99 246 34 212 0.86 exonic rs79285536 CDC27 AU nonsynonymous SNV NM_001293091 exon13 c.A1656C p.L552F 0.32 T 1.000 D -0.983 T 0.075 T 0.109 T ID=COSM4130188,COSM4130187;OCCURENCE=1(thyroid) Pathogenic 17_45214600_A->G 17 45214600 45214600 A G snp 5341.77 0/1 99 240 38 202 0.84 exonic rs112627286 CDC27 AU nonsynonymous SNV NM_001293091 exon13 c.T1648C p.F550L 0.63 T 1.000 D -1.028 T 0.002 T 0.007 T Pathogenic 17_45214605_T->C 17 45214605 45214605 T C snp 5183.77 0/1 99 236 34 202 0.86 exonic rs76926116 CDC27 AU nonsynonymous SNV NM_001293091 exon13 c.A1643G p.H548R 0.4987 0.4998 0 D 1 D -0.114 T 0.848 T 0.513 P Pathogenic 17_45214614_A->G 17 45214614 45214614 A G snp 4465.77 0/1 99 215 40 175 0.81 exonic CDC27 AU nonsynonymous SNV NM_001293091 exon13 c.T1634C p.L545P 0 D 1 D -0.131 T 1.0 D 0.996 D Pathogenic 17_45214615_G->C 17 45214615 45214615 G C snp 4412.77 0/1 99 214 39 175 0.82 exonic CDC27 AU nonsynonymous SNV NM_001293091 exon13 c.C1633G p.L545V 0 D 1 D -0.136 T 1.0 D 0.966 D Pathogenic 17_45214616_A->G 17 45214616 45214616 A G snp 4462.77 0/1 99 214 39 175 0.82 exonic CDC27 AU synonymous SNV NM_001293091 exon13 c.T1632C p.T544T Uncertain 17_45214617_G->C 17 45214617 45214617 G C snp 4331.77 0/1 99 214 39 175 0.82 exonic CDC27 AU nonsynonymous SNV NM_001293091 exon13 c.C1631G p.T544S 0.01 T 1 D -0.052 T 0.982 D 0.822 D Pathogenic 17_45214631_G->A 17 45214631 45214631 G A snp 5225.77 0/1 99 241 26 215 0.89 exonic rs11570544 CDC27 AU synonymous SNV NM_001293091 exon13 c.C1617T p.Y539Y 0.0141773 0.4747 0.4813 Uncertain 17_45214633_A->C 17 45214633 45214633 A C snp 4908.77 0/1 99 240 35 205 0.85 exonic rs148087250 CDC27 AU nonsynonymous SNV NM_001293091 exon13 c.T1615G p.Y539D 0 D 1.000 D -0.847 T 0.008 T 0.006 T ID=COSM4130194,COSM4130193;OCCURENCE=1(thyroid) Pathogenic 17_45214643_A->C 17 45214643 45214643 A C snp 5047.77 0/1 99 235 24 211 0.9 exonic rs138020641 CDC27 AU synonymous SNV NM_001293091 exon13 c.T1605G p.V535V 0.0191 0.0122 Uncertain 17_45214648_G->C 17 45214648 45214648 G C snp 4899.77 0/1 99 229 27 202 0.88 exonic CDC27 AU nonsynonymous SNV NM_001293091 exon13 c.C1600G p.Q534E 0 D 1 D -0.520 T 0.96 D 0.647 D ID=COSM4130196,COSM4130195;OCCURENCE=2(thyroid) Pathogenic 17_45214651_T->G 17 45214651 45214651 T G snp 4888.77 0/1 99 227 26 201 0.89 exonic CDC27 AU nonsynonymous SNV NM_001293091 exon13 c.A1597C p.I533L 0.09 T 1 D -1.019 T 0.276 T 0.137 T ID=COSM4130197,COSM4130198;OCCURENCE=2(thyroid) Pathogenic 17_45214654_C->T 17 45214654 45214654 C T snp 4866.77 0/1 99 227 26 201 0.89 exonic rs775321736 CDC27 AU nonsynonymous SNV NM_001293091 exon13 c.G1594A p.A532T 2.478e-05 0 0 D 1 D 0.834 D 0.992 D 0.931 D Pathogenic 17_45214669_T->G 17 45214669 45214669 T G snp 4703.77 0/1 99 221 28 193 0.87 exonic rs62075620 CDC27 AU nonsynonymous SNV NM_001293091 exon13 c.A1579C p.K527Q 0.04 T 1 D -0.260 T 0.999 D 0.923 D ID=COSM4130202,COSM4130201;OCCURENCE=1(thyroid) Pathogenic 17_45214673_T->C 17 45214673 45214673 T C snp 4699.77 0/1 99 219 29 190 0.87 exonic rs62075621 CDC27 AU synonymous SNV NM_001293091 exon13 c.A1575G p.A525A Uncertain 17_45214682_A->G 17 45214682 45214682 A G snp 4624.77 0/1 99 211 23 188 0.89 exonic rs62075622 CDC27 AU synonymous SNV NM_001293091 exon13 c.T1566C p.H522H 0.4919 0.4947 Uncertain 17_45214699_T->C 17 45214699 45214699 T C snp 4021.77 0/1 99 194 29 165 0.85 exonic rs62075623 CDC27 AU nonsynonymous SNV NM_001293091 exon13 c.A1549G p.S517G 0.01 T 1 D -0.499 T 0.957 D 0.589 D ID=COSM4130206,COSM4130205;OCCURENCE=4(thyroid) Pathogenic 17_45216132_T->G 17 45216132 45216132 T G snp 339.77 0/1 54 49 3 46 0.94 exonic rs62075657 CDC27 AU nonsynonymous SNV NM_001293091 exon12 c.A1494C p.L498F 0 D 1.000 D 0.103 D 1.0 D 0.995 D ID=COSM4130207,COSM4130208;OCCURENCE=1(thyroid) Pathogenic 17_45216141_T->G 17 45216141 45216141 T G snp 339.77 0/1 54 49 3 46 0.94 exonic rs62075658 CDC27 AU synonymous SNV NM_001293091 exon12 c.A1485C p.S495S ID=COSM4130209,COSM4130210;OCCURENCE=1(thyroid) Likely pathogenic 17_45216162_A->C 17 45216162 45216162 A C snp 339.77 0/1 56 50 4 46 0.92 exonic rs111227623 CDC27 AU nonsynonymous SNV NM_001293091 exon12 c.T1464G p.D488E 1 T 1.000 D -0.976 T 0.171 T 0.082 T ID=COSM41553;OCCURENCE=2(large_intestine),1(ovary),1(lung),3(thyroid) Pathogenic 17_45216168_T->C 17 45216168 45216168 T C snp 336.77 0/1 96 51 5 46 0.9 exonic rs146997390 CDC27 AU synonymous SNV NM_001293091 exon12 c.A1458G p.Q486Q 8.308e-06 0 Uncertain 17_45216169_T->G 17 45216169 45216169 T G snp 336.77 0/1 96 51 5 46 0.9 exonic rs77891297 CDC27 AU nonsynonymous SNV NM_001293091 exon12 c.A1457C p.Q486P 0.01 T 1 D 0.093 D 1.0 D 0.992 D Pathogenic 17_45216172_A->G 17 45216172 45216172 A G snp 327.77 0/1 96 51 5 46 0.9 exonic rs76836152 CDC27 AU nonsynonymous SNV NM_001293091 exon12 c.T1454C p.L485P 0 D 1 D 0.345 D 1.0 D 0.998 D Pathogenic 17_45216210_A->G 17 45216210 45216210 A G snp 672.77 0/1 99 65 8 57 0.88 exonic rs62075659 CDC27 AU synonymous SNV NM_001293091 exon12 c.T1416C p.V472V Uncertain 17_45216216_A->G 17 45216216 45216216 A G snp 672.77 0/1 99 65 9 56 0.86 exonic rs62077260 CDC27 AU synonymous SNV NM_001293091 exon12 c.T1410C p.Y470Y ID=COSM287920,COSM287919;OCCURENCE=1(large_intestine) Likely pathogenic 17_45216231_T->C 17 45216231 45216231 T C snp 649.77 0/1 99 58 11 47 0.81 exonic rs76715333 CDC27 AU synonymous SNV NM_001293091 exon12 c.A1395G p.R465R Uncertain 17_45216247_A->T 17 45216247 45216247 A T snp 509.77 0/1 99 39 11 28 0.72 exonic rs201607934 CDC27 AU nonsynonymous SNV NM_001293091 exon12 c.T1379A p.I460K 0.13 T 1 D -0.407 T 0.832 T 0.354 P Pathogenic 17_45216248_T->G 17 45216248 45216248 T G snp 505.77 0/1 99 37 11 26 0.7 exonic rs199927167 CDC27 AU nonsynonymous SNV NM_001293091 exon12 c.A1378C p.I460L 0.48 T 1.000 D -0.938 T 0.001 T 0.004 T Pathogenic 17_45219226_T->G 17 45219226 45219226 T G snp 61.77 0/1 61 7 2 5 0.71 exonic rs75729335 CDC27 AU nonsynonymous SNV NM_001293091 exon11 c.A1361C p.Y454S 0 D 1 D 0.386 D 1.0 D 0.998 D Pathogenic 17_45219239_C->T 17 45219239 45219239 C T snp 841.77 0/1 46 53 4 49 0.92 exonic rs79201963 CDC27 AU nonsynonymous SNV NM_001293091 exon11 c.G1348A p.E450K 0 D 1 D 0.381 D 1.0 D 0.999 D ID=COSM436752,COSM436751;OCCURENCE=1(thyroid),1(breast) Pathogenic 17_45219241_A->C 17 45219241 45219241 A C snp 843.77 0/1 99 57 5 52 0.91 exonic rs80029043 CDC27 AU nonsynonymous SNV NM_001293091 exon11 c.T1346G p.F449C 0.06 T 1 D -0.164 T 0.9 T 0.32 P ID=COSM349353,COSM349352;OCCURENCE=1(lung),1(cervix) Pathogenic 17_45219255_A->G 17 45219255 45219255 A G snp 875.77 0/1 99 76 8 68 0.89 exonic rs79415072 CDC27 AU synonymous SNV NM_001293091 exon11 c.T1332C p.I444I ID=COSM292501,COSM292500;OCCURENCE=1(large_intestine) Likely pathogenic 17_45219276_A->G 17 45219276 45219276 A G snp 907.77 0/1 99 79 10 69 0.87 exonic rs74771330 CDC27 AU synonymous SNV NM_001293091 exon11 c.T1311C p.T437T ID=COSM4130219,COSM4130220;OCCURENCE=2(thyroid) Likely pathogenic 17_45219283_T->C 17 45219283 45219283 T C snp 908.77 0/1 99 83 13 70 0.84 exonic rs76995821 CDC27 AU nonsynonymous SNV NM_001293091 exon11 c.A1304G p.Y435C 0.03 T 1 D 0.181 D 1.0 D 0.983 D ID=COSM1521346,COSM1521347;OCCURENCE=1(thyroid),1(lung) Pathogenic 17_45219296_G->C 17 45219296 45219296 G C snp 898.77 0/1 99 89 20 69 0.78 exonic rs79487913 CDC27 AU nonsynonymous SNV NM_001293091 exon11 c.C1291G p.P431A 0.01 T 1 D 0.224 D 1.0 D 0.981 D ID=COSM4130221,COSM4130222;OCCURENCE=1(thyroid) Pathogenic 17_45219309_A->G 17 45219309 45219309 A G snp 892.77 0/1 99 96 27 69 0.72 exonic CDC27 AU synonymous SNV NM_001293091 exon11 c.T1278C p.I426I Uncertain 17_45219312_A->G 17 45219312 45219312 A G snp 850.77 0/1 99 97 29 68 0.7 exonic CDC27 AU synonymous SNV NM_001293091 exon11 c.T1275C p.N425N Uncertain 17_45219313_T->C 17 45219313 45219313 T C snp 892.77 0/1 99 97 28 69 0.71 exonic CDC27 AU nonsynonymous SNV NM_001293091 exon11 c.A1274G p.N425S 0.5 T 0.999 D -1.013 T 0.001 T 0.001 T Pathogenic 17_45219315_T->G 17 45219315 45219315 T G snp 898.77 0/1 99 97 28 69 0.71 exonic CDC27 AU synonymous SNV NM_001293091 exon11 c.A1272C p.I424I Uncertain 17_45219329_A->C 17 45219329 45219329 A C snp 871.77 0/1 99 106 37 69 0.65 exonic CDC27 AU nonsynonymous SNV NM_001293091 exon11 c.T1258G p.C420G 0.01 T 1 D 0.047 D 0.999 D 0.963 D Pathogenic 17_45219332_T->G 17 45219332 45219332 T G snp 853.77 0/1 99 111 42 69 0.62 exonic rs62077261 CDC27 AU nonsynonymous SNV NM_001293091 exon11 c.A1255C p.N419H 0.0008 0.0009 0.05 T 1 D -0.076 T 0.997 D 0.878 D Pathogenic 17_45219336_T->A 17 45219336 45219336 T A snp 787.77 0/1 99 111 44 67 0.6 exonic CDC27 AU synonymous SNV NM_001293091 exon11 c.A1251T p.S417S Uncertain 17_45219364_A->C 17 45219364 45219364 A C snp 490.77 0/1 99 101 50 51 0.5 exonic rs74496366 CDC27 AU nonsynonymous SNV NM_001293091 exon11 c.T1223G p.M408R 0 0 0 D 1.000 D -0.605 T 0.718 T 0.251 P Pathogenic 17_45219387_A->G 17 45219387 45219387 A G snp 39.77 0/1 68 65 49 16 0.25 exonic rs77870608 CDC27 AU synonymous SNV NM_001293091 exon11 c.T1200C p.G400G Uncertain 17_45221273_A->C 17 45221273 45221273 A C snp 1620.77 0/1 99 117 33 84 0.72 exonic rs1141701 CDC27 AU nonsynonymous SNV NM_001293091 exon9 c.T963G p.F321L 0.22 T 1.000 D -0.659 T 0.944 T 0.548 D Pathogenic 17_45221286_C->T 17 45221286 45221286 C T snp 1615.77 0/1 99 119 31 88 0.74 exonic rs77440865 CDC27 AU nonsynonymous SNV NM_001293091 exon9 c.G950A p.S317N 0.0003 0.0004 0.03 T 1 D 0.475 D 0.998 D 0.895 D Pathogenic 17_45221298_A->G 17 45221298 45221298 A G snp 1668.77 0/1 99 118 27 91 0.77 exonic rs80120716 CDC27 AU nonsynonymous SNV NM_001293091 exon9 c.T938C p.L313P 0.28 T 1 D -0.982 T 0.01 T 0.004 T Pathogenic 17_45221303_G->A 17 45221303 45221303 G A snp 1569.77 0/1 99 113 24 89 0.79 exonic rs76836956 CDC27 AU synonymous SNV NM_001293091 exon9 c.C933T p.N311N 0.000199681 0.0001 0 Uncertain 17_45221317_T->C 17 45221317 45221317 T C snp 1650.77 0/1 99 107 19 88 0.82 exonic rs79454290 CDC27 AU nonsynonymous SNV NM_001293091 exon9 c.A919G p.T307A 0.66 T 0.984 N -1.029 T 0.0 T 0.0 T Pathogenic 17_45221318_A->C 17 45221318 45221318 A C snp 1675.77 0/1 99 107 17 90 0.84 exonic rs77739281 CDC27 AU nonsynonymous SNV NM_001293091 exon9 c.T918G p.I306M 0.0002 0 0.12 T 1.000 D -1.024 T 0.04 T 0.011 T Pathogenic 17_45229200_G->T 17 45229200 45229200 G T snp 241.77 0/1 99 116 77 39 0.34 exonic rs186608264 CDC27 AU nonsynonymous SNV NM_001293091 exon8 c.C859A p.Q287K 0.9 T 1.000 D -0.934 T 0.014 T 0.004 T Pathogenic 17_45229207_A->G 17 45229207 45229207 A G snp 173.77 0/1 99 128 88 40 0.31 exonic rs200836601 CDC27 AU synonymous SNV NM_001293091 exon8 c.T852C p.I284I Uncertain 17_45229209_T->C 17 45229209 45229209 T C snp 203.77 0/1 99 128 89 39 0.3 exonic rs201447460 CDC27 AU nonsynonymous SNV NM_001293091 exon8 c.A850G p.I284V 0.58 T 0.836 N -1.008 T 0.0 T 0.001 T Pathogenic 17_45229221_C->T 17 45229221 45229221 C T snp 185.77 0/1 99 157 116 41 0.26 exonic CDC27 AU nonsynonymous SNV NM_001293091 exon8 c.G838A p.E280K 0.87 T 1.000 D -0.913 T 0.005 T 0.005 T Pathogenic 17_45229228_A->C 17 45229228 45229228 A C snp 107.77 0/1 99 175 133 42 0.24 exonic CDC27 AU nonsynonymous SNV NM_001293091 exon8 c.T831G p.N277K 0.48 T 1.000 D -0.859 T 0.991 D 0.785 D Pathogenic 17_45229234_A->C 17 45229234 45229234 A C snp 152.77 0/1 99 182 140 42 0.23 exonic CDC27 AU nonsynonymous SNV NM_001293091 exon8 c.T825G p.S275R 0.35 T 0.998 D -0.995 T 0.915 T 0.411 D Pathogenic 17_45229240_T->C 17 45229240 45229240 T C snp 131.77 0/1 99 193 151 42 0.22 exonic CDC27 AU synonymous SNV NM_001293091 exon8 c.A819G p.S273S Uncertain 17_45229253_T->G 17 45229253 45229253 T G snp 79.77 0/1 99 218 176 42 0.19 exonic rs200834582 CDC27 AU nonsynonymous SNV NM_001293091 exon8 c.A806C p.K269T 0.32 T 1.000 D -0.793 T 0.919 T 0.523 D Pathogenic 17_45229254_T->G 17 45229254 45229254 T G snp 94.77 0/1 99 219 177 42 0.19 exonic rs201804958 CDC27 AU nonsynonymous SNV NM_001293091 exon8 c.A805C p.K269Q 0.32 T 1.000 D -0.793 T 0.919 T 0.523 D Pathogenic 17_45229261_A->G 17 45229261 45229261 A G snp 82.77 0/1 99 229 187 42 0.18 exonic rs111414808 CDC27 AU synonymous SNV NM_001293091 exon8 c.T798C p.T266T 3.301e-05 0 Uncertain 17_45234278_C->A 17 45234278 45234278 C A snp 71.77 0/1 99 127 115 12 0.09 splicing rs201613328 CDC27 AU NM_001293091 exon13 c.35978C>A 0.0001 0 1 D Pathogenic 17_45234298_G->C 17 45234298 45234298 G C snp 4349.77 0/1 99 250 68 182 0.73 exonic rs62077263 CDC27 AU nonsynonymous SNV NM_001293091 exon6 c.C640G p.L214V 0.51 T 1.000 D -0.646 T 0.997 D 0.942 D Pathogenic 17_45234343_T->G 17 45234343 45234343 T G snp 4863.77 0/1 99 250 40 210 0.84 exonic rs3208659 CDC27 AU nonsynonymous SNV NM_001293091 exon6 c.A595C p.N199H 0.18 T 1 D -0.742 T 0.948 T 0.54 D Pathogenic 17_45234360_A->C 17 45234360 45234360 A C snp 4838.77 0/1 99 249 33 216 0.87 exonic rs62077264 CDC27 AU stopgain NM_001293091 exon6 c.T578G p.L193X 0.75 T 1 A Pathogenic 17_45234403_T->G 17 45234403 45234403 T G snp 4484.77 0/1 99 221 26 195 0.88 exonic rs75184508 CDC27 AU nonsynonymous SNV NM_001293091 exon6 c.A535C p.I179L 0.78 T 1.000 D -0.937 T 0.042 T 0.015 T CLINSIG=untested;CLNDBN=Malignant_melanoma;CLNREVSTAT=no_assertion_provided;CLNACC=RCV000071527.2;CLNDSDB=MedGen:SNOMED_CT;CLNDSDBID=C0025202:2092003 Pathogenic 17_45234404_T->G 17 45234404 45234404 T G snp 4520.77 0/1 99 220 27 193 0.88 exonic rs74925848 CDC27 AU synonymous SNV NM_001293091 exon6 c.A534C p.V178V CLINSIG=untested;CLNDBN=Malignant_melanoma;CLNREVSTAT=no_assertion_provided;CLNACC=RCV000071528.2;CLNDSDB=MedGen:SNOMED_CT;CLNDSDBID=C0025202:2092003 Likely pathogenic 17_45234416_A->G 17 45234416 45234416 A G snp 3942.77 0/1 99 197 29 168 0.85 exonic rs74628496 CDC27 AU synonymous SNV NM_001293091 exon6 c.T522C p.I174I Uncertain 17_45234420_T->G 17 45234420 45234420 T G snp 3703.77 0/1 99 185 26 159 0.86 exonic rs78493795 CDC27 AU nonsynonymous SNV NM_001293091 exon6 c.A518C p.Y173S 0.4898 0.4973 0.4 T 1.000 P -0.853 T 0.003 T 0.006 T Pathogenic 17_45234430_A->G 17 45234430 45234430 A G snp 2854.77 0/1 99 155 30 125 0.81 exonic rs78072949 CDC27 AU nonsynonymous SNV NM_001293091 exon6 c.T508C p.S170P 0.0108 0.0066 0.29 T 1 D -0.910 T 0.014 T 0.01 T Pathogenic 17_45234434_A->G 17 45234434 45234434 A G snp 2718.77 0/1 99 154 33 121 0.79 exonic rs75241171 CDC27 AU synonymous SNV NM_001293091 exon6 c.T504C p.D168D Uncertain 17_45234477_A->C 17 45234477 45234477 A C snp 483.77 0/1 99 77 52 25 0.32 exonic rs77095606 CDC27 AU nonsynonymous SNV NM_001293091 exon6 c.T461G p.L154W 0.02 T 1.000 D -0.413 T 0.997 D 0.908 D Pathogenic 17_45234481_T->C 17 45234481 45234481 T C snp 308.77 0/1 99 67 51 16 0.24 exonic rs78043820 CDC27 AU nonsynonymous SNV NM_001293091 exon6 c.A457G p.R153G 0.45 T 1.000 D -0.904 T 0.257 T 0.074 T Pathogenic 17_45234486_A->C 17 45234486 45234486 A C snp 58.77 0/1 87 57 49 8 0.14 exonic rs75204938 CDC27 AU stopgain NM_001293091 exon6 c.T452G p.L151X 0.71 T 1 A Pathogenic 17_45234626_T->G 17 45234626 45234626 T G snp 248.77 0/1 99 45 28 17 0.38 exonic rs76359747 CDC27 AU synonymous SNV NM_001293091 exon5 c.A417C p.T139T 0.0057 0.0046 Uncertain 17_45234632_A->G 17 45234632 45234632 A G snp 191.77 0/1 99 47 34 13 0.28 exonic rs75175938 CDC27 AU synonymous SNV NM_001293091 exon5 c.T411C p.P137P Uncertain 17_45234645_G->C 17 45234645 45234645 G C snp 272.77 0/1 99 52 35 17 0.33 exonic rs75990396 CDC27 AU nonsynonymous SNV NM_001293091 exon5 c.C398G p.S133C 0.0267 0.0125 0.06 T 0.625 N -0.798 T 0.007 T 0.006 T Pathogenic 17_45234654_T->G 17 45234654 45234654 T G snp 185.77 0/1 99 53 39 14 0.26 exonic rs374614181 CDC27 AU nonsynonymous SNV NM_001293091 exon5 c.A389C p.H130P 0.28 T 1.000 D -0.957 T 0.478 P 0.134 P Pathogenic 17_45234657_T->C 17 45234657 45234657 T C snp 227.77 0/1 99 55 40 15 0.27 exonic rs78108688 CDC27 AU nonsynonymous SNV NM_001293091 exon5 c.A386G p.N129S 0.0445 0.0337 1 T 0.667 D -0.965 T 0.001 T 0.002 T Pathogenic 17_45234658_T->G 17 45234658 45234658 T G snp 211.77 0/1 99 56 41 15 0.27 exonic rs368750026 CDC27 AU nonsynonymous SNV NM_001293091 exon5 c.A385C p.N129H 8.24e-06 0 0.46 T 0.871 D -0.812 T 0.845 T 0.254 P Pathogenic 17_45234663_A->C 17 45234663 45234663 A C snp 168.77 0/1 99 59 45 14 0.24 exonic rs370261409 CDC27 AU nonsynonymous SNV NM_001293091 exon5 c.T380G p.V127G 0.48 T 1.000 D -0.958 T 0.051 T 0.016 T Pathogenic 17_45234665_T->A 17 45234665 45234665 T A snp 168.77 0/1 99 60 47 13 0.22 exonic rs374472811 CDC27 AU nonsynonymous SNV NM_001293091 exon5 c.A378T p.Q126H 0.16 T 0.984 N -0.991 T 0.0 T 0.001 T Pathogenic 17_45234666_T->A 17 45234666 45234666 T A snp 163.77 0/1 99 60 47 13 0.22 exonic rs367644695 CDC27 AU nonsynonymous SNV NM_001293091 exon5 c.A377T p.Q126L 0.35 T 0.996 N -1.029 T 0.0 T 0.0 T Pathogenic 17_45234678_G->C 17 45234678 45234678 G C snp 213.77 0/1 99 64 49 15 0.23 exonic rs376818791 CDC27 AU nonsynonymous SNV NM_001293091 exon5 c.C365G p.S122C 0.05 T 0.749 N -0.805 T 0.002 T 0.002 T Pathogenic 17_45234680_G->C 17 45234680 45234680 G C snp 212.77 0/1 99 64 49 15 0.23 exonic rs368304141 CDC27 AU nonsynonymous SNV NM_001293091 exon5 c.C363G p.N121K 0.46 T 0.993 D -1.048 T 0.001 T 0.003 T Pathogenic 17_45234685_G->A 17 45234685 45234685 G A snp 215.77 0/1 99 64 49 15 0.23 exonic rs149474782 CDC27 AU nonsynonymous SNV NM_001293091 exon5 c.C358T p.P120S 0.74 T 1.000 D -0.917 T 0.003 T 0.004 T Pathogenic 17_45234689_A->G 17 45234689 45234689 A G snp 165.77 0/1 99 65 52 13 0.2 exonic rs140171160 CDC27 AU synonymous SNV NM_001293091 exon5 c.T354C p.C118C Uncertain 17_45234702_T->C 17 45234702 45234702 T C snp 214.77 0/1 99 70 51 19 0.27 exonic rs147617501 CDC27 AU nonsynonymous SNV NM_001293091 exon5 c.A341G p.N114S 0.76 T 1.000 D -0.944 T 0.004 T 0.014 T Pathogenic 17_45234706_G->C 17 45234706 45234706 G C snp 211.77 0/1 99 72 52 20 0.28 exonic rs143453365 CDC27 AU nonsynonymous SNV NM_001293091 exon5 c.C337G p.Q113E 1 T 1.000 D -0.964 T 0.013 T 0.008 T Pathogenic 17_45234709_A->G 17 45234709 45234709 A G snp 205.77 0/1 99 74 55 19 0.26 exonic rs142987740 CDC27 AU synonymous SNV NM_001293091 exon5 c.T334C p.L112L Uncertain 17_45234713_T->G 17 45234713 45234713 T G snp 202.77 0/1 99 75 56 19 0.25 exonic CDC27 AU synonymous SNV NM_001293091 exon5 c.A330C p.T110T Uncertain 17_45234720_T->C 17 45234720 45234720 T C snp 205.77 0/1 99 76 57 19 0.25 exonic rs202182614 CDC27 AU nonsynonymous SNV NM_001293091 exon5 c.A323G p.K108R 0.54 T 0.998 D -0.976 T 0.007 T 0.006 T Pathogenic 17_45234721_T->A 17 45234721 45234721 T A snp 200.77 0/1 99 76 55 21 0.28 exonic rs199899451 CDC27 AU stopgain NM_001293091 exon5 c.A322T p.K108X 1 T 1 A Pathogenic 17_45249306_T->C 17 45249306 45249306 T C snp 256.77 0/1 99 56 22 34 0.61 exonic rs62077265 CDC27 AU synonymous SNV NM_001114091 exon3 c.A228G p.A76A Uncertain 17_45249316_T->C 17 45249316 45249316 T C snp 245.77 0/1 99 63 29 34 0.54 exonic rs62077266 CDC27 AU nonsynonymous SNV NM_001114091 exon3 c.A218G p.Y73C 0 D 1 D -0.365 T 0.267 T 0.096 T Pathogenic 17_45249330_T->G 17 45249330 45249330 T G snp 235.77 0/1 99 71 37 34 0.48 exonic rs1058201 CDC27 AU synonymous SNV NM_001114091 exon3 c.A204C p.T68T Uncertain 17_45249365_C->T 17 45249365 45249365 C T snp 226.77 0/1 99 81 47 34 0.42 exonic rs62077268 CDC27 AU nonsynonymous SNV NM_001114091 exon3 c.G169A p.A57T 0.05 T 1 D 0.378 D 0.982 D 0.758 D Pathogenic 17_45249372_T->G 17 45249372 45249372 T G snp 214.77 0/1 99 84 50 34 0.4 exonic rs62077269 CDC27 AU synonymous SNV NM_001114091 exon3 c.A162C p.A54A 0.0006 0.0005 Uncertain 17_45249391_T->G 17 45249391 45249391 T G snp 193.77 0/1 99 89 55 34 0.38 exonic rs62077270 CDC27 AU nonsynonymous SNV NM_001114091 exon3 c.A143C p.Y48S 0.06 T 1 D 0.137 D 0.999 D 0.957 D Pathogenic 17_45249399_T->C 17 45249399 45249399 T C snp 189.77 0/1 99 89 55 34 0.38 exonic rs62077271 CDC27 AU synonymous SNV NM_001114091 exon3 c.A135G p.A45A 1.235e-05 0 Uncertain 17_45249408_A->G 17 45249408 45249408 A G snp 202.77 0/1 99 90 56 34 0.38 exonic rs62077272 CDC27 AU synonymous SNV NM_001114091 exon3 c.T126C p.F42F Uncertain 17_45266510_A->G 17 45266510 45266510 A G snp 60.77 0/1 89 112 103 9 0.08 splicing CDC27 AU NM_001293091 exon18 c.68211-1A>G 1 D Pathogenic 17_45266522_T->C 17 45266522 45266522 T C snp 5510.77 0/1 99 249 72 177 0.71 exonic rs62077279 CDC27 AU nonsynonymous SNV NM_001114091 exon1 c.A17G p.E6G 0.31 T 1 D -0.537 T 1.0 D 0.976 D Pathogenic 17_45266535_T->C 17 45266535 45266535 T C snp 5978.77 0/1 99 250 67 183 0.73 exonic rs62077280 CDC27 AU nonsynonymous SNV NM_001114091 exon1 c.A4G p.T2A 0.4 T 1 D -0.721 T 0.99 D 0.971 D Pathogenic 17_45266571_T->A 17 45266571 45266571 T A snp 4247.77 0/1 99 249 64 185 0.74 UTR5 rs62077281 CDC27 AU Uncertain 17_45266575_-->CACCCCC 17 45266575 45266575 - CACCCCC indel 14570.7 0/1 99 246 59 187 0.76 UTR5 CDC27 AU Uncertain 17_45266583_T->C 17 45266583 45266583 T C snp 5912.77 0/1 99 238 62 176 0.74 UTR5 rs79580708 CDC27 AU 2.566e-05 0 Uncertain 17_45266584_G->A 17 45266584 45266584 G A snp 5007.77 0/1 99 238 66 172 0.72 UTR5 rs74720779 CDC27 AU Uncertain 17_45266610_T->G 17 45266610 45266610 T G snp 6877.77 0/1 99 236 39 197 0.83 UTR5 rs73319515 CDC27 AU Uncertain 17_45266622_C->G 17 45266622 45266622 C G snp 6882.77 0/1 99 226 34 192 0.85 UTR5 rs78501339 CDC27 AU Uncertain 17_45266623_T->G 17 45266623 45266623 T G snp 6779.77 0/1 99 226 34 192 0.85 UTR5 rs143786623 CDC27 AU Uncertain 17_45266631_G->C 17 45266631 45266631 G C snp 6794.77 0/1 99 221 31 190 0.86 UTR5 CDC27 AU Uncertain 17_45266632_A->G 17 45266632 45266632 A G snp 6567.77 0/1 99 220 30 190 0.86 UTR5 CDC27 AU Uncertain 17_45266655_G->T 17 45266655 45266655 G T snp 5772.77 0/1 99 193 24 169 0.88 UTR5 rs113690642 CDC27 AU Uncertain 17_45291104_G->- 17 45291104 45291104 G - indel 2445.73 1/1 99 68 0 68 1.0 intronic rs11327482 MYL4 AU NM_002476 exon2 c.4376-60delG 0.740016 0.8472 Uncertain 17_45297113_G->T 17 45297113 45297113 G T snp 56.74 1/1 6 2 0 2 1.0 intronic rs3785874 MYL4 AU NM_002476 exon3 c.10481-156G>T 0.204273 0.4524 Uncertain 17_45300218_C->T 17 45300218 45300218 C T snp 499.77 1/1 39 15 0 15 1.0 intronic rs4968309 MYL4 AU NM_002476 exon6 c.13591-161C>T 0.707867 0.8403 Uncertain 17_45331358_C->G 17 45331358 45331358 C G snp 1151.77 0/1 99 103 51 52 0.5 intronic rs11871407 ITGB3 AR,AD,AU NM_000212 exon1 c.79+52C>G 0.301318 0.4643 0.155919 0.2818 0.5737 Uncertain 17_45331427_G->A 17 45331427 45331427 G A snp 552.77 0/1 99 41 22 19 0.46 intronic rs11871251 ITGB3 AR,AD,AU NM_000212 exon1 c.79+121G>A 0.291933 0.4643 Uncertain 17_45363546_G->T 17 45363546 45363546 G T snp 483.77 0/1 99 40 20 20 0.5 intronic rs35265764 ITGB3 AR,AD,AU NM_000212 exon5 c.32398-79G>T 0.129393 0.2183 Uncertain 17_45364722_C->T 17 45364722 45364722 C T snp 82.77 0/1 99 9 4 5 0.56 intronic rs2292865 ITGB3 AR,AD,AU NM_000212 exon6 c.33370+125C>T 0.430312 0.5575 Uncertain 17_45367681_C->T 17 45367681 45367681 C T snp 365.77 0/1 99 24 11 13 0.54 intronic rs2292864 ITGB3 AR,AD,AU NM_000212 exon8 c.36413+41C>T 0.129393 0.2173 0.108796 0.1147 0.2329 Uncertain 17_45368337_A->C 17 45368337 45368337 A C snp 1109.77 0/1 99 140 85 55 0.39 exonic rs15908 ITGB3 AR,AD,AU synonymous SNV NM_000212 exon9 c.A1143C p.V381V 0.43111 0.5476 0.385053 0.3902 0.5880 Uncertain 17_45369777_A->G 17 45369777 45369777 A G snp 2178.77 0/1 99 199 110 89 0.45 exonic rs4642 ITGB3 AR,AD,AU synonymous SNV NM_000212 exon10 c.A1533G p.E511E 0.28734 0.3313 0.283946 0.2871 0.3472 Uncertain 17_45369789_G->A 17 45369789 45369789 G A snp 2422.77 0/1 99 226 119 107 0.47 exonic rs4634 ITGB3 AR,AD,AU synonymous SNV NM_000212 exon10 c.G1545A p.R515R 0.28734 0.3313 0.283869 0.2873 0.3475 Uncertain 17_45379886_A->G 17 45379886 45379886 A G snp 56.74 1/1 6 2 0 2 1.0 intronic rs9906248 ITGB3 AR,AD,AU NM_000212 exon13 c.48859-200A>G 0.973243 1 Uncertain 17_45380002_T->C 17 45380002 45380002 T C snp 622.77 0/1 99 40 14 26 0.65 intronic rs3760372 ITGB3 AR,AD,AU NM_000212 exon13 c.48859-84T>C 0.742013 0.7986 Uncertain 17_45425287_C->T 17 45425287 45425287 C T snp 444.77 0/1 99 37 19 18 0.49 exonic rs71377306 EFCAB13 AU stopgain NM_152347 exon9 c.C631T p.R211X 0.0916534 0.2252 0.039775 0.0743 0.2358 1 T 0.021 P ID=CM134299;DIS=Autism spectrum disorder;TAG=DM?;PUB=23352160 DM? Pathogenic 17_45600307_T->- 17 45600307 45600307 T - indel 6906.73 1/1 99 171 0 171 1.0 intergenic rs201678252 MRPL45P2 AU 0.342652 0.4008 0.4199 0.2803 Uncertain 17_45623439_-->GTGAGAGA 17 45623439 45623439 - GTGAGAGA indel 4649.73 ./1 99 62 2 60 0.97 intronic rs60359036 NPEPPS AU NM_006310 exon2 c.14693+80insGTGAGAGA Uncertain 17_45623439_-->GTGTGAGAGA 17 45623439 45623439 - GTGTGAGAGA indel 4649.73 ./1 99 62 2 60 0.97 intronic NPEPPS AU NM_006310 exon2 c.14693+80insGTGTGAGAGA Uncertain 17_45663681_TA->- 17 45663681 45663682 TA - indel 123.73 0/1 99 20 12 8 0.4 intronic rs372546318 NPEPPS AU NM_006310 exon8 c.55064-49_55064-48delTA Uncertain 17_45668339_T->G 17 45668339 45668339 T G snp 845.77 0/1 99 72 17 55 0.76 intronic rs2610294 NPEPPS AU NM_006310 exon10 c.59581+92T>G Uncertain 17_45669428_-->A 17 45669428 45669428 - A indel 1863.73 1/1 99 123 0 123 1.0 splicing rs59875832 NPEPPS AU NM_006310 exon11 c.60760+2insA 0.544529 0.6647 0.5138 0.6196 Pathogenic 17_45669524_A->C 17 45669524 45669524 A C snp 283.78 1/1 24 8 0 8 1.0 intronic rs3865314 NPEPPS AU NM_006310 exon11 c.60760+98A>C 0.447684 0.5476 Uncertain 17_45677193_T->- 17 45677193 45677193 T - indel 536.73 1/1 63 37 0 37 1.0 intronic rs34538095 NPEPPS AU NM_006310 exon14 c.68439+88delT 0.442492 0.5506 Uncertain 17_45695832_C->T 17 45695832 45695832 C T snp 6775.77 1/1 99 250 2 248 0.99 intronic rs3760370 NPEPPS AU NM_006310 exon20 c.87157+9C>T 0.457468 0.5565 0.435142 0.5088 0.5535 Uncertain 17_45695914_T->C 17 45695914 45695914 T C snp 5141.77 1/1 99 181 2 179 0.99 intronic rs3760371 NPEPPS AU NM_006310 exon20 c.87157+91T>C 0.379393 0.4067 Uncertain 17_45700384_-->CTA 17 45700384 45700384 - CTA indel 1780.73 1/1 93 42 0 42 1.0 UTR3 rs3065062 NPEPPS AU 0.574281 0.6667 Uncertain 17_45734210_TTT->- 17 45734210 45734212 TTT - indel 5033.73 1/1 99 92 0 92 1.0 intronic rs398058740 KPNB1 AU NM_002265 exon4 c.6615-15_6615-13delTTT 0.485304 0.5709 0.6835 Uncertain 17_45735706_T->C 17 45735706 45735706 T C snp 175.9 1/1 15 5 0 5 1.0 intronic rs8078686 KPNB1 AU NM_002265 exon5 c.8263-167T>C 0.538339 0.6825 Uncertain 17_45750596_G->A 17 45750596 45750596 G A snp 2422.77 1/1 99 72 0 72 1.0 intronic rs3809868 KPNB1 AU NM_002265 exon13 c.22921+65G>A 0.544529 0.6657 Uncertain 17_45754570_C->- 17 45754570 45754570 C - indel 1386.73 1/1 99 38 0 38 1.0 intronic rs11301979 KPNB1 AU NM_002265 exon17 c.26883+77delC 1 1 Uncertain 17_45757598_G->A 17 45757598 45757598 G A snp 1920.77 1/1 99 70 0 70 1.0 intronic rs7210738 KPNB1 AU NM_002265 exon20 c.29890+98G>A 0.544129 0.6657 Uncertain 17_45885687_A->G 17 45885687 45885687 A G snp 184.77 0/1 99 21 12 9 0.43 exonic rs9907142 OSBPL7 AU synonymous SNV NM_145798 exon23 c.T2499C p.Y833Y 0.836661 0.8165 0.907812 0.9032 0.8089 Uncertain 17_45887951_G->T 17 45887951 45887951 G T snp 723.77 0/1 99 53 25 28 0.53 intronic rs2074189 OSBPL7 AU NM_145798 exon6 c.2303-8G>T 0.408546 0.2817 0.478548 0.4510 0.3128 Uncertain 17_45888251_C->G 17 45888251 45888251 C G snp 768.77 0/1 99 80 51 29 0.36 intronic rs2074188 OSBPL7 AU NM_145798 exon7 c.2545+50C>G 0.573083 0.7153 0.506306 0.5408 0.6949 Uncertain 17_45894735_A->G 17 45894735 45894735 A G snp 878.77 0/1 99 77 38 39 0.51 intronic rs9914156 OSBPL7 AU NM_145798 exon16 c.9069+10A>G 0.842053 0.8125 0.913732 0.9059 0.8111 Uncertain 17_45896478_T->C 17 45896478 45896478 T C snp 840.77 0/1 99 88 47 41 0.47 intronic rs878171 OSBPL7 AU NM_145798 exon19 c.10809+13T>C 0.734026 0.7272 0.816085 0.8343 0.7011 Uncertain 17_45897531_C->A 17 45897531 45897531 C A snp 1925.77 0/1 99 166 77 89 0.54 intronic rs1985407 OSBPL7 AU NM_145798 exon22 c.11913-38C>A 0.733826 0.7282 0.816008 0.8344 0.6981 Uncertain 17_45904163_A->G 17 45904163 45904163 A G snp 1460.77 0/1 99 143 76 67 0.47 intronic rs3809869 MRPL10 AU NM_145255 exon2 c.2577+16A>G 0.334665 0.6419 0.261418 0.3593 0.6200 Uncertain 17_45905850_C->T 17 45905850 45905850 C T snp 612.77 1/1 45 23 0 23 1.0 intronic rs4793671 MRPL10 AU NM_145255 exon4 c.4296-16C>T 0.982628 0.998 0.985391 0.9736 0.9981 Uncertain 17_45915788_T->C 17 45915788 45915788 T C snp 5695.77 1/1 99 215 0 215 1.0 exonic rs7350974 SCRN2 AU nonsynonymous SNV NM_001145023 exon7 c.A967G p.M323V 0.983027 0.998 0.985441 0.9747 0.9981 0.37 T 0.0 P -0.996 T 0.0 T 0.0 T Pathogenic 17_45992580_-->A 17 45992580 45992580 - A indel 470.73 1/1 32 29 2 27 0.93 ncRNA_intronic rs397751881 SP2-AS1 AU Uncertain 17_45994044_C->T 17 45994044 45994044 C T snp 6192.77 1/1 99 206 0 206 1.0 exonic rs2228253 SP2 AU synonymous SNV NM_003110 exon3 c.C607T p.L203L 0.567891 0.7748 0.486929 0.4818 0.7599 Uncertain 17_45994094_T->C 17 45994094 45994094 T C snp 6236.77 1/1 99 217 0 217 1.0 exonic rs2228251 SP2 AU synonymous SNV NM_003110 exon3 c.T657C p.L219L 0.568091 0.7758 0.487160 0.4824 0.7618 Uncertain 17_45994154_G->A 17 45994154 45994154 G A snp 5788.77 1/1 99 234 1 233 1.0 exonic rs2229358 SP2 AU synonymous SNV NM_003110 exon3 c.G717A p.P239P 0.49381 0.7748 0.411656 0.4601 0.7625 Uncertain 17_46002744_G->T 17 46002744 46002744 G T snp 3056.77 1/1 99 114 0 114 1.0 exonic rs1130932 SP2 AU synonymous SNV NM_003110 exon6 c.G1578T p.V526V 0.502796 0.7708 0.421267 0.4628 0.7606 Uncertain 17_46022889_C->T 17 46022889 46022889 C T snp 2734.77 1/1 99 100 0 100 1.0 intronic rs2002136 PNPO AR NM_018129 exon4 c.3883-35C>T 0.386581 0.5496 0.348685 0.3736 0.5360 Uncertain 17_46048157_A->G 17 46048157 46048157 A G snp 229.84 1/1 18 8 0 8 1.0 upstream rs2525084 CDK5RAP3 AU 0.690895 0.7847 Uncertain 17_46048165_T->C 17 46048165 46048165 T C snp 180.9 1/1 15 5 0 5 1.0 upstream rs2597168 CDK5RAP3 AU 0.648363 0.7857 Uncertain 17_46048168_C->T 17 46048168 46048168 C T snp 180.9 1/1 15 5 0 5 1.0 upstream rs2255697 CDK5RAP3 AU 0.648363 0.7857 Uncertain 17_46048592_A->G 17 46048592 46048592 A G snp 2764.77 1/1 99 104 0 104 1.0 intronic rs2905846 CDK5RAP3 AU NM_176096 exon1 c.6+74A>G 0.691494 0.7847 0.699956 0.7137 0.7739 Uncertain 17_46048858_C->G 17 46048858 46048858 C G snp 3853.77 1/1 99 139 0 139 1.0 intronic rs2525085 CDK5RAP3 AU NM_176096 exon2 c.261+85C>G 0.691893 0.7847 Uncertain 17_46052793_A->G 17 46052793 46052793 A G snp 1095.77 1/1 81 33 0 33 1.0 intronic rs2597172 CDK5RAP3 AU NM_176096 exon7 c.4367-86A>G 0.689097 0.7847 Uncertain 17_46054264_C->A 17 46054264 46054264 C A snp 2476.77 1/1 99 95 0 95 1.0 intronic rs2525087 CDK5RAP3 AU NM_176096 exon9 c.5676+76C>A 0.697284 0.7847 Uncertain 17_46055106_C->T 17 46055106 46055106 C T snp 1689.77 1/1 99 59 0 59 1.0 intronic rs2597173 CDK5RAP3 AU NM_176096 exon10 c.6685-91C>T 0.653155 0.7847 Uncertain 17_46055347_A->G 17 46055347 46055347 A G snp 1550.77 1/1 99 51 0 51 1.0 intronic rs2875746 CDK5RAP3 AU NM_176096 exon10 c.6764+71A>G 0.663139 0.7847 Uncertain 17_46059071_T->C 17 46059071 46059071 T C snp 3388.77 1/1 99 127 2 125 0.98 UTR3 rs2737 CDK5RAP3 AU 0.252995 0.5347 0.2406 0.5773 ID=CR115817;DIS=Colorectal cancer, late-onset, association with;TAG=DFP;PUB=21394385 DFP Uncertain 17_46115072_-->G 17 46115072 46115072 - G indel 1009.73 1/1 78 28 0 28 1.0 exonic rs199699704 COPZ2 AU unknown 0.999601 1 0.976471 1 . Uncertain 17_46115084_-->GG 17 46115084 46115084 - GG indel 1218.73 1/1 72 24 0 24 1.0 exonic rs201261614 COPZ2 AU unknown 0.997804 0.998 1 . ID=COSM1610412;OCCURENCE=1(liver) Uncertain 17_46115122_-->G 17 46115122 46115122 - G indel 503.73 1/1 39 13 0 13 1.0 exonic rs587693257 COPZ2 AU unknown 0.992212 1 0.960000 0 . Uncertain 17_46132212_-->G 17 46132212 46132212 - G indel 776.73 1/1 60 21 0 21 1.0 intronic rs373501023 NFE2L1 AU NM_003204 exon3 c.5267-1535insG 1 1 Uncertain 17_46132455_G->A 17 46132455 46132455 G A snp 1228.77 0/1 99 65 15 50 0.77 intronic rs372911662 NFE2L1 AU NM_003204 exon3 c.5267-1292G>A 0.00259585 0.0129 0.0012 0 Uncertain 17_46153296_C->T 17 46153296 46153296 C T snp 1175.77 1/1 87 39 0 39 1.0 intronic rs2240123 CBX1 AU NM_001127228 exon3 c.4566-66C>T 0.200479 0.4325 Uncertain 17_46190819_G->A 17 46190819 46190819 G A snp 2803.77 1/1 99 103 0 103 1.0 intronic rs8080662 SNX11 AU NM_013323 exon4 c.1358+56G>A 0.733826 0.8075 Uncertain 17_46195926_C->T 17 46195926 46195926 C T snp 560.77 1/1 42 19 0 19 1.0 intronic rs8071267 SNX11 AU NM_013323 exon5 c.6660-139C>T 0.534545 0.7183 Uncertain 17_46198876_G->C 17 46198876 46198876 G C snp 468.77 1/1 36 15 0 15 1.0 UTR3 rs3744346 SNX11 AU 0.735623 0.8085 0.713440 0.7723 0.8041 Uncertain 17_46214476_A->G 17 46214476 46214476 A G snp 2394.77 1/1 99 78 0 78 1.0 intronic rs12600464 SKAP1 AU 0.199481 0.4415 Uncertain 17_46239985_A->G 17 46239985 46239985 A G snp 1602.77 1/1 99 48 0 48 1.0 intronic rs208005 SKAP1 AU NM_003726 exon3 c.25334+54A>G 0.878594 0.8155 Uncertain 17_46262171_C->T 17 46262171 46262171 C T snp 1339.77 1/1 96 44 0 44 1.0 exonic rs2278868 SKAP1 AU nonsynonymous SNV NM_001075099 exon7 c.G481A p.G161S 0.607029 0.7827 0.533831 0.6226 0.7593 1 T 0.000 P -0.929 T 0.0 T 0.002 T Pathogenic 17_46265433_G->C 17 46265433 46265433 G C snp 745.77 1/1 57 21 0 21 1.0 intronic rs2305433 SKAP1 AU NM_001075099 exon8 c.50691+145G>C 0.581669 0.7827 Uncertain 17_46607021_T->C 17 46607021 46607021 T C snp 5009.77 1/1 99 177 0 177 1.0 exonic rs7226137 HOXB1 AR nonsynonymous SNV NM_002144 exon2 c.A794G p.E265G 0.986621 1 0.984007 0.9955 1 1 T 1.0 P -0.935 T 0.0 T 0.0 T Pathogenic 17_46620288_G->A 17 46620288 46620288 G A snp 1227.77 1/1 90 35 0 35 1.0 UTR3 rs1042815 HOXB2 AU 0.544129 0.6409 Uncertain 17_46622292_A->G 17 46622292 46622292 A G snp 38.77 0/1 67 19 14 5 0.26 ncRNA_intronic HOXB-AS1 AU 0.0021 0.0004 Uncertain 17_46622335_-->C 17 46622335 46622335 - C indel 132.87 1/1 15 8 0 8 1.0 ncRNA_intronic rs111979968 HOXB-AS1 AU Uncertain 17_46629232_G->A 17 46629232 46629232 G A snp 304.78 1/1 24 8 0 8 1.0 intronic rs890432 HOXB3 AU NM_002146 exon2 c.1693-156G>A 0.598642 0.7966 Uncertain 17_46629593_G->T 17 46629593 46629593 G T snp 2890.77 1/1 99 103 1 102 0.99 exonic rs2229304 HOXB3 AU nonsynonymous SNV NM_002146 exon3 c.C244A p.P82T 0.603435 0.7976 0.612188 0.6686 0.7968 0.63 T 1.0 P -0.964 T 0.072 T 0.021 T Pathogenic 17_46632725_A->G 17 46632725 46632725 A G snp 141.03 1/1 12 5 0 5 1.0 intronic rs79077418 HOXB3 AU NM_002146 exon3 c.5197-167A>G Uncertain 17_46632727_G->A 17 46632727 46632727 G A snp 214.84 1/1 18 6 0 6 1.0 intronic rs9913170 HOXB3 AU NM_002146 exon3 c.5197-165G>A Uncertain 17_46632731_G->A 17 46632731 46632731 G A snp 222.84 1/1 18 6 0 6 1.0 intronic HOXB3 AU NM_002146 exon3 c.5197-161G>A Uncertain 17_46651061_T->C 17 46651061 46651061 T C snp 513.77 1/1 39 22 0 22 1.0 intronic rs2288277 HOXB3 AU NM_002146 exon4 c.23503-137T>C 0.809704 0.8641 Uncertain 17_46669430_C->T 17 46669430 46669430 C T snp 133.03 1/1 12 4 0 4 1.0 ncRNA_intronic rs9299 HOXB-AS3 AU 0.485623 0.5407 ID=CR128492;DIS=Bladder cancer, increased risk, association with;TAG=DP;PUB=22768238 DP Uncertain 17_46670520_T->C 17 46670520 46670520 T C snp 865.77 1/1 63 27 0 27 1.0 exonic rs7406798 HOXB5 AU synonymous SNV NM_002147 exon1 c.A525G p.Q175Q 0.936302 1 0.937625 0.9820 1 Uncertain 17_46673723_T->G 17 46673723 46673723 T G snp 6720.77 1/1 99 246 1 245 1.0 ncRNA_intronic rs12949148 HOXB-AS3 AU 0.426917 0.5208 0.233868 Uncertain 17_46673724_C->T 17 46673724 46673724 C T snp 6704.77 1/1 99 248 1 247 1.0 ncRNA_intronic rs12940530 HOXB-AS3 AU 0.426917 0.5208 0.147547 0.5233 0.5073 Uncertain 17_46688256_T->C 17 46688256 46688256 T C snp 6093.77 1/1 99 234 0 234 1.0 exonic rs7406910 HOXB7 AU nonsynonymous SNV NM_004502 exon1 c.A25G p.T9A 0.834265 0.8562 0.886474 0.8795 0.8535 1 T 0.000 P -0.970 T 0.0 T 0.0 T Pathogenic 17_46691587_-->GGCCCCCTGCCC 17 46691587 46691587 - GGCCCCCTGCCC indel 1292.74 1/1 27 9 0 9 1.0 intronic rs11267100 HOXB8 AU NM_024016 exon2 c.1079-55insGGCCCCCTGCCC 0.404153 0.4554 Uncertain 17_46709835_A->G 17 46709835 46709835 A G snp 301.77 0/1 99 17 6 11 0.65 downstream rs718079 MIR196A1 AU 0.555511 0.5863 0.574412 0.6437 0.5923 Uncertain 17_46862675_T->A 17 46862675 46862675 T A snp 328.78 1/1 27 11 0 11 1.0 intronic rs507973 TTLL6 AU NM_001130918 exon4 c.16213+112T>A 0.309105 0.7034 Uncertain 17_46862711_T->C 17 46862711 46862711 T C snp 54.74 1/1 6 2 0 2 1.0 intronic rs508696 TTLL6 AU NM_001130918 exon4 c.16213+148T>C 0.857428 0.9167 Uncertain 17_46877063_G->A 17 46877063 46877063 G A snp 1945.77 0/1 99 167 82 85 0.51 exonic rs61739953 TTLL6 AU nonsynonymous SNV NM_001130918 exon6 c.C671T p.P224L 0.0780751 0.0952 0.035480 0.0763 0.1045 0.01 T 1 D -0.078 T 1.0 D 0.998 D Pathogenic 17_46881748_T->C 17 46881748 46881748 T C snp 2625.77 1/1 99 98 0 98 1.0 intronic rs489005 TTLL6 AU NM_001130918 exon15 c.35783-385T>C 0.871006 0.9167 0.9062 0.9235 1 T 0.0 P -0.959 T Uncertain 17_46881973_A->- 17 46881973 46881973 A - indel 124.73 0/1 99 12 7 5 0.42 intronic rs34841989 TTLL6 AU NM_001130918 exon15 c.35783-160delA 0.40016 0.7103 Uncertain 17_46923384_G->A 17 46923384 46923384 G A snp 1228.77 0/1 99 108 50 58 0.54 intronic rs533842 CALCOCO2 AU NM_001261391 exon3 c.4326-11G>A 0.260383 0.6538 0.1928 0.7121 Uncertain 17_46923914_A->- 17 46923914 46923914 A - indel 2513.73 0/1 99 148 76 72 0.49 intronic rs34967264 CALCOCO2 AU NM_001261390 exon3 c.4807+38delA 0.150958 0.0675 0.1095 0.0379 Uncertain 17_46925859_G->A 17 46925859 46925859 G A snp 1503.77 0/1 99 101 42 59 0.58 intronic rs3744604 CALCOCO2 AU NM_005831 exon4 c.6748+42G>A 0.150958 0.0675 0.115793 0.0787 0.0459 Uncertain 17_46926615_G->A 17 46926615 46926615 G A snp 318.77 0/1 99 45 29 16 0.36 exonic rs550510 CALCOCO2 AU nonsynonymous SNV NM_001261390 exon6 c.G491A p.G164E 0.243211 0.6538 0.105336 0.1934 0.6790 1 T 0.242 P -0.932 T 0.133 T 0.19 T Pathogenic 17_46926772_A->G 17 46926772 46926772 A G snp 141.03 1/1 12 4 0 4 1.0 intronic rs551605 CALCOCO2 AU NM_005831 exon5 c.7670+33A>G 0.979233 1 0.976549 0.9936 1 Uncertain 17_46929908_T->C 17 46929908 46929908 T C snp 1929.77 0/1 99 198 109 89 0.45 exonic rs2303015 CALCOCO2 AU nonsynonymous SNV NM_001261390 exon9 c.T815C p.V272A 0.150958 0.0675 0.115870 0.0790 0.0463 0.74 T 0.0 P -0.902 T 0.309 T 0.138 T ID=CM139746;DIS=Crohn's disease, increased risk, association with;TAG=DFP;PUB=23624108 DFP Pathogenic 17_46930529_A->G 17 46930529 46930529 A G snp 426.77 0/1 99 41 25 16 0.39 intronic rs73989219 CALCOCO2 AU NM_005831 exon9 c.11305+155A>G 0.150958 0.0675 Uncertain 17_46934007_A->C 17 46934007 46934007 A C snp 652.77 0/1 99 56 32 24 0.43 intronic rs2546495 CALCOCO2 AU NM_005831 exon10 c.14480+458A>C 0.571486 0.8333 0.5470 0.8561 Uncertain 17_46939495_G->A 17 46939495 46939495 G A snp 515.77 0/1 99 67 42 25 0.37 intronic rs12451265 CALCOCO2 AU NM_005831 exon12 c.20568-142G>A 0.144968 0.0675 Uncertain 17_46940416_A->G 17 46940416 46940416 A G snp 1214.77 0/1 99 90 44 46 0.51 UTR3 rs3744605 CALCOCO2 AU 0.0660942 0.0675 0.027064 0.0564 0.0488 Uncertain 17_46941578_G->A 17 46941578 46941578 G A snp 46.77 0/1 33 3 1 2 0.67 UTR3 rs7216848 CALCOCO2 AU 0.151358 0.1002 Uncertain 17_46941682_G->C 17 46941682 46941682 G C snp 386.77 0/1 99 32 15 17 0.53 UTR3 rs7217035 CALCOCO2 AU 0.150958 0.0675 Uncertain 17_46941817_C->T 17 46941817 46941817 C T snp 266.77 0/1 99 49 35 14 0.29 UTR3 rs7222365 CALCOCO2 AU 0.151158 0.0675 Uncertain 17_46970836_A->G 17 46970836 46970836 A G snp 1347.77 1/1 96 47 0 47 1.0 intronic rs684682 ATP5G1 AU NM_005175 exon2 c.39+18A>G 0.982827 1 0.980086 0.9944 1 Uncertain 17_46971832_T->C 17 46971832 46971832 T C snp 61.77 0/1 90 11 8 3 0.27 intronic rs149151254 ATP5G1 AU NM_005175 exon3 c.1032+21T>C 0.00219649 0.0109 0.0009 0.0126 Uncertain 17_46972480_TCTC->- 17 46972480 46972483 TCTC - indel 6185.73 0/1 99 237 130 107 0.45 intronic rs3080082 ATP5G1 AU NM_005175 exon4 c.1738-37_1738-34delTCTC 0.42512 0.6845 0.401502 0.4959 0.7046 Uncertain 17_46972865_C->T 17 46972865 46972865 C T snp 31.77 0/1 60 8 6 2 0.25 intronic rs832410 ATP5G1 AU NM_005175 exon5 c.2237-151C>T 0.42512 0.6845 Uncertain 17_46973140_G->- 17 46973140 46973140 G - indel 843.73 1/1 75 31 0 31 1.0 UTR3 rs35074390 ATP5G1 AU 0.982827 1 0.9943 1 Uncertain 17_46985757_G->- 17 46985757 46985757 G - indel 846.73 1/1 69 23 0 23 1.0 UTR5 rs398030994 UBE2Z AU 0.976038 0.9742 Uncertain 17_46993370_G->A 17 46993370 46993370 G A snp 173.77 0/1 99 24 17 7 0.29 intronic rs4378658 UBE2Z AU NM_023079 exon4 c.7572-67G>A 0.422923 0.6835 Uncertain 17_46993397_T->- 17 46993397 46993397 T - indel 789.73 0/1 99 36 13 23 0.64 intronic rs142959616 UBE2Z AU NM_023079 exon4 c.7572-40delT 0.179313 0.0635 0.138818 0.0942 0.0487 Uncertain 17_47000110_C->T 17 47000110 47000110 C T snp 94.77 0/1 99 18 10 8 0.44 intronic rs2088139 UBE2Z AU NM_023079 exon6 c.14343-98C>T 0.422923 0.6825 Uncertain 17_47000251_C->T 17 47000251 47000251 C T snp 1066.77 1/1 75 44 0 44 1.0 exonic rs1058018 UBE2Z AU synonymous SNV NM_023079 exon6 c.C846T p.Y282Y 0.634784 0.747 0.564970 0.5959 0.7471 Uncertain 17_47010796_AG->- 17 47010796 47010797 AG - indel 990.73 0/1 99 67 39 28 0.42 intronic rs3837847 SNF8 AU NM_007241 exon3 c.2872+88_2872+89delAG 0.423123 0.6835 Uncertain 17_47011897_C->T 17 47011897 47011897 C T snp 209.77 0/1 57 13 3 10 0.77 intronic rs57901004 SNF8 AU NM_007241 exon3 c.2872+1189C>T 0.422923 0.6835 0.7292 0.8571 0.13 T 0.0 P -1.029 T Uncertain 17_47013382_-->TTTGT 17 47013382 47013382 - TTTGT indel 526.73 0/1 99 14 6 8 0.57 intronic rs140139274 SNF8 AU NM_007241 exon4 c.5695-149insTTTGT Uncertain 17_47013393_-->T 17 47013393 47013393 - T indel 104.73 0/1 99 21 13 8 0.38 intronic rs397755841 SNF8 AU NM_007241 exon4 c.5695-138insT 0.251398 0.1677 Uncertain 17_47013718_T->- 17 47013718 47013718 T - indel 309.73 0/1 99 27 11 16 0.59 intronic rs3215074 SNF8 AU NM_007241 exon4 c.5768+114delT 0.422724 0.6786 Uncertain 17_47014571_T->C 17 47014571 47014571 T C snp 3588.77 0/1 99 250 120 130 0.52 intronic rs73332250 SNF8 AU NM_007241 exon5 c.6650+85T>C 0.210863 0.0645 Uncertain 17_47014675_C->T 17 47014675 47014675 C T snp 6597.77 1/1 99 217 0 217 1.0 intronic rs2132201 SNF8 AU NM_007241 exon5 c.6650+189C>T 0.983027 1 0.9965 1 Uncertain 17_47014754_T->C 17 47014754 47014754 T C snp 1791.77 1/1 99 53 0 53 1.0 intronic rs2132200 SNF8 AU NM_007241 exon5 c.6650+268T>C 0.983027 1 Uncertain 17_47021418_A->C 17 47021418 47021418 A C snp 371.77 0/1 99 20 9 11 0.55 intronic rs12603612 SNF8 AU NM_007241 exon7 c.13501+81A>C 0.424121 0.6825 Uncertain 17_47021428_C->G 17 47021428 47021428 C G snp 174.77 0/1 99 14 8 6 0.43 intronic rs2411375 SNF8 AU NM_007241 exon7 c.13501+91C>G 0.424121 0.6825 Uncertain 17_47021429_G->A 17 47021429 47021429 G A snp 144.77 0/1 99 13 8 5 0.38 intronic rs60968027 SNF8 AU NM_007241 exon7 c.13501+92G>A 0.236022 0.6667 Uncertain 17_47035869_T->C 17 47035869 47035869 T C snp 304.77 0/1 99 23 12 11 0.48 downstream rs4793605 GIP AU 0.422923 0.6825 Uncertain 17_47038391_T->C 17 47038391 47038391 T C snp 1063.77 1/1 78 33 0 33 1.0 intronic rs6504587 GIP AU NM_004123 exon2 c.2281+42T>C 0.983626 1 0.980757 0.9932 1 Uncertain 17_47039132_T->C 17 47039132 47039132 T C snp 709.77 0/1 99 109 72 37 0.34 exonic rs2291725 GIP AU nonsynonymous SNV NM_004123 exon4 c.A307G p.S103G 0.422524 0.6835 0.402276 0.4953 0.7083 0.65 T 0.0 P -0.974 T 0.0 T 0.0 T ID=CM110492;DIS=Increased bioactivity;TAG=FP;PUB=20978139 FP Pathogenic 17_47039254_T->C 17 47039254 47039254 T C snp 713.77 0/1 99 46 14 32 0.7 intronic rs2291726 GIP AU NM_004123 exon3 c.3113+73T>C 0.547524 0.3145 Uncertain 17_47044463_C->T 17 47044463 47044463 C T snp 1529.77 0/1 99 119 52 67 0.56 intronic rs62078384 GIP AU NM_004123 exon5 c.8440-45C>T 0.421925 0.6806 0.398893 0.4899 0.7045 Uncertain 17_47076551_G->T 17 47076551 47076551 G T snp 59.77 0/1 88 11 7 4 0.36 intronic rs2411760 IGF2BP1 AU NM_001160423 exon2 c.1424+20G>T 0.929592 0.9496 0.8402 Uncertain 17_47104005_T->G 17 47104005 47104005 T G snp 77.77 0/1 30 4 1 3 0.75 intronic rs8073725 IGF2BP1 AU NM_001160423 exon4 c.28772+126T>G 0.222843 0.1746 Uncertain 17_47109369_G->- 17 47109369 47109369 G - indel 1440.73 0/1 99 129 57 72 0.56 intronic rs34685424 IGF2BP1 AU NM_001160423 exon5 c.34228+34delG 0.248003 0.1756 0.260824 0.2220 0.2372 Uncertain 17_47109427_C->G 17 47109427 47109427 C G snp 597.77 0/1 99 43 24 19 0.44 intronic rs8079385 IGF2BP1 AU NM_001160423 exon5 c.34228+92C>G 0.210463 0.1746 Uncertain 17_47118995_G->C 17 47118995 47118995 G C snp 571.77 0/1 99 39 19 20 0.51 intronic rs62078404 IGF2BP1 AU NM_001160423 exon6 c.43755+133G>C 0.0145767 0.0248 Uncertain 17_47119832_C->T 17 47119832 47119832 C T snp 449.77 0/1 99 37 18 19 0.51 intronic rs2289637 IGF2BP1 AU NM_001160423 exon7 c.44632+93C>T 0.216853 0.1736 Uncertain 17_47120776_T->C 17 47120776 47120776 T C snp 664.77 0/1 99 51 24 27 0.53 intronic rs2289636 IGF2BP1 AU NM_001160423 exon8 c.45682-13T>C 0.513179 0.2272 0.585422 0.4751 0.2410 Uncertain 17_47121551_G->C 17 47121551 47121551 G C snp 1448.77 0/1 99 103 47 56 0.54 intronic rs62078405 IGF2BP1 AU NM_001160423 exon9 c.46341+103G>C 0.0451278 0.1091 Uncertain 17_47123887_C->G 17 47123887 47123887 C G snp 231.77 0/1 99 13 5 8 0.62 intronic rs58631313 IGF2BP1 AU NM_001160423 exon12 c.48628+152C>G 0.0682907 0.1091 Uncertain 17_47126795_C->T 17 47126795 47126795 C T snp 757.77 0/1 99 74 45 29 0.39 exonic rs149888111 IGF2BP1 AU nonsynonymous SNV NM_001160423 exon13 c.C1306T p.R436W 0.000077 5.87e-05 0.0005 0 D 0.993 D -0.935 T 0.999 D 0.852 D Pathogenic 17_47210429_A->G 17 47210429 47210429 A G snp 1326.77 0/1 99 126 68 58 0.46 exonic rs7207842 B4GALNT2 AU synonymous SNV NM_153446 exon1 c.A42G p.E14E 0.742212 0.5179 0.805214 0.7859 0.5204 Uncertain 17_47219542_G->A 17 47219542 47219542 G A snp 701.77 0/1 99 70 39 31 0.44 intronic rs12453819 B4GALNT2 AU NM_001159387 exon3 c.9380+8G>A 0.360823 0.4494 0.321467 0.3162 0.4657 Uncertain 17_47234117_T->G 17 47234117 47234117 T G snp 96.28 1/1 9 3 0 3 1.0 intronic rs2293217 B4GALNT2 AU NM_001159387 exon5 c.23811+152T>G 0.341853 0.2768 Uncertain 17_47237802_A->G 17 47237802 47237802 A G snp 301.78 1/1 24 8 0 8 1.0 intronic rs1523137 B4GALNT2 AU NM_001159387 exon7 c.27762-114A>G 0.9998 1 Uncertain 17_47238028_C->T 17 47238028 47238028 C T snp 2734.77 1/1 99 100 0 100 1.0 intronic rs8071836 B4GALNT2 AU NM_001159387 exon7 c.27849+25C>T 0.996006 1 0.994387 0.9985 1 Uncertain 17_47241604_T->C 17 47241604 47241604 T C snp 3293.77 1/1 99 126 0 126 1.0 exonic rs8074457 B4GALNT2 AU synonymous SNV NM_001159387 exon8 c.T921C p.N307N 0.996206 1 0.994464 0.9986 1 Uncertain 17_47245887_G->A 17 47245887 47245887 G A snp 80.77 0/1 99 6 3 3 0.5 intronic rs16946907 B4GALNT2 AU NM_001159387 exon10 c.35888-155G>A 0.122005 0.0218 Uncertain 17_47245929_C->T 17 47245929 47245929 C T snp 188.77 0/1 99 20 11 9 0.45 intronic rs59809949 B4GALNT2 AU NM_001159387 exon10 c.35888-113C>T 0.145168 0.0218 Uncertain 17_47246163_T->C 17 47246163 47246163 T C snp 803.77 0/1 99 65 28 37 0.57 exonic rs7224888 B4GALNT2 AU nonsynonymous SNV NM_001159387 exon10 c.T1216C p.C406R 0.131989 0.0218 0.130324 0.1185 0.0304 0 D 1.000 P -1.093 T 1.0 D 0.999 D Pathogenic 17_47246979_A->G 17 47246979 47246979 A G snp 247.77 0/1 99 33 21 12 0.36 exonic rs16946912 B4GALNT2 AU synonymous SNV NM_001159387 exon11 c.A1410G p.E470E 0.122005 0.0218 0.115408 0.1150 0.0306 Uncertain 17_47280301_T->C 17 47280301 47280301 T C snp 3559.77 1/1 99 131 0 131 1.0 intergenic rs4794029 B4GALNT2 AU 0.814497 0.7609 0.8263 0.7761 Uncertain 17_47280536_A->G 17 47280536 47280536 A G snp 37.77 0/1 66 4 2 2 0.5 intergenic rs6504602 B4GALNT2 AU 0.280351 0.4514 Uncertain 17_47284621_A->G 17 47284621 47284621 A G snp 109.77 0/1 99 12 7 5 0.42 intronic rs56042984 GNGT2 AU NM_001198754 exon2 c.582-79A>G 0.105431 0.0258 Uncertain 17_47284683_C->T 17 47284683 47284683 C T snp 484.77 0/1 99 46 22 24 0.52 intronic rs2293215 GNGT2 AU NM_001198754 exon2 c.582-17C>T 0.258986 0.4514 0.187375 0.2166 0.4429 Uncertain 17_47295008_C->A 17 47295008 47295008 C A snp 344.77 0/1 99 22 7 15 0.68 intronic rs117745330 ABI3 AU NM_016428 exon3 c.7014-92C>A 0.138778 0.2153 Uncertain 17_47295148_C->T 17 47295148 47295148 C T snp 2010.77 0/1 99 201 111 90 0.45 exonic rs117896869 ABI3 AU synonymous SNV NM_001135186 exon3 c.C315T p.T105T 0.000798722 0.004 0.0003 0.0042 Uncertain 17_47295356_-->CTC 17 47295356 47295356 - CTC indel 728.73 0/1 99 44 26 18 0.41 intronic rs139428883 ABI3 AU NM_016428 exon3 c.7191+79insCTC 0.14357 0.2143 Uncertain 17_47297297_T->C 17 47297297 47297297 T C snp 1717.77 1/1 99 62 0 62 1.0 exonic rs616338 ABI3 AU nonsynonymous SNV NM_001135186 exon5 c.T608C p.F203S 0.998403 1 0.992993 0.9943 1 0.47 T 0.0 P -1.001 T 0.0 T 0.0 T Pathogenic 17_47297537_C->A 17 47297537 47297537 C A snp 322.77 0/1 99 21 7 14 0.67 exonic rs76617033 ABI3 AU synonymous SNV NM_001135186 exon6 c.C633A p.A211A 0.0151757 0.0635 0.000769 0.0059 0.0545 Uncertain 17_47376440_A->G 17 47376440 47376440 A G snp 54.74 1/1 6 2 0 2 1.0 intronic rs2960168 ZNF652 AU NM_001145365 exon1 c.512+154A>G 0.312899 0.246 Uncertain 17_47390014_G->C 17 47390014 47390014 G C snp 139.03 1/1 12 4 0 4 1.0 intronic rs2072153 ZNF652 AU NM_001145365 exon4 c.14285-45G>C 0.324481 0.3016 0.297632 0.3268 0.2966 Uncertain 17_47583581_A->G 17 47583581 47583581 A G snp 1762.77 0/1 99 120 53 67 0.56 ncRNA_exonic rs55759007 LOC100288866 AU 0.113618 0.1032 Uncertain 17_47588000_C->T 17 47588000 47588000 C T snp 2601.77 0/1 99 246 128 118 0.48 exonic rs11466155 NGFR AU synonymous SNV NM_002507 exon4 c.C795T p.G265G 0.229832 0.0823 0.249577 0.3060 0.0846 Uncertain 17_47688881_-->AGAG 17 47688881 47688881 - AGAG indel 448.73 0/1 99 25 15 10 0.4 intronic rs140209761 SPOP AU NM_003563 exon5 c.11080+62insAGAG 0.734425 0.7917 Uncertain 17_47696820_G->A 17 47696820 47696820 G A snp 179.77 0/1 99 16 9 7 0.44 intronic rs7219984 SPOP AU NM_003563 exon7 c.19008+73G>A 0.215455 0.3433 Uncertain 17_47700315_G->A 17 47700315 47700315 G A snp 298.77 0/1 99 22 11 11 0.5 intronic rs3815474 SPOP AU NM_003563 exon9 c.22499+77G>A 0.216254 0.3462 Uncertain 17_47779289_A->- 17 47779289 47779289 A - indel 150.73 0/1 99 40 21 19 0.47 intronic rs753505334 SLC35B1 AU NM_005827 exon1 c.53+417delA 0.2832 0.25 Uncertain 17_47780711_CA->- 17 47780711 47780712 CA - indel 456.73 1/1 36 27 0 27 1.0 intronic rs10595474 SLC35B1 AU NM_005827 exon3 c.1837+55_1837+56delCA 0.461462 0.505 0.181949 Uncertain 17_47785064_C->A 17 47785064 47785064 C A snp 290.78 1/1 24 9 0 9 1.0 intronic rs9908959 SLC35B1 AU NM_005827 exon9 c.6272-27C>A 0.997404 1 0.996573 0.9988 0.9999 Uncertain 17_47801651_A->G 17 47801651 47801651 A G snp 232.77 0/1 99 13 5 8 0.62 intronic rs11079874 FAM117A AU NM_030802 exon6 c.11340+1695A>G 0.885583 0.7302 Uncertain 17_47841303_G->A 17 47841303 47841303 G A snp 49.77 0/1 33 4 1 3 0.75 exonic rs542973117 FAM117A AU synonymous SNV NM_030802 exon1 c.C147T p.P49P 0.00339457 0.0119 0 . Uncertain 17_47888852_A->G 17 47888852 47888852 A G snp 4986.77 1/1 99 199 0 199 1.0 exonic rs4462645 KAT7 AU synonymous SNV NM_001199158 exon4 c.A261G p.R87R 0.997204 0.999 0.995387 0.9988 1 Uncertain 17_47903381_C->T 17 47903381 47903381 C T snp 944.77 0/1 99 71 36 35 0.49 exonic rs61749929 KAT7 AU synonymous SNV NM_001199158 exon10 c.C993T p.V331V 0.202676 0.4792 0.090420 0.1721 0.475 Uncertain 17_47924267_G->C 17 47924267 47924267 G C snp 1223.77 0/1 99 112 62 50 0.45 intronic rs56186849 FLJ45513 AU NM_001242791 exon3 c.727-26G>C 0.0748802 0.2629 0.0753 0.3852 Uncertain 17_48068720_T->A 17 48068720 48068720 T A snp 441.77 1/1 36 13 0 13 1.0 UTR3 rs8081044 DLX3 AD 0.923323 1 Uncertain 17_48069288_G->C 17 48069288 48069288 G C snp 134.77 0/1 99 9 4 5 0.56 intronic rs9899645 DLX3 AD NM_005220 exon1 c.348+60G>C 0.268371 0.497 Uncertain 17_48070741_G->A 17 48070741 48070741 G A snp 563.77 0/1 99 37 18 19 0.51 intronic rs2303467 DLX3 AD NM_005220 exon2 c.1883-22G>A 0.226637 0.4732 0.146771 0.3250 0.6046 Uncertain 17_48070878_C->T 17 48070878 48070878 C T snp 3137.77 0/1 99 250 133 117 0.47 exonic rs2303466 DLX3 AD synonymous SNV NM_005220 exon2 c.G402A p.T134T 0.226438 0.4722 0.164693 0.2117 0.5102 Uncertain 17_48141334_G->A 17 48141334 48141334 G A snp 480.77 0/1 99 38 20 18 0.47 intronic rs55827079 ITGA3 AR NM_002204 exon2 c.7637-106G>A 0.193291 0.3244 Uncertain 17_48149386_C->T 17 48149386 48149386 C T snp 1549.77 0/1 99 128 64 64 0.5 exonic rs2269772 ITGA3 AR synonymous SNV NM_002204 exon7 c.C996T p.F332F 0.246605 0.2778 0.171844 0.1682 0.3244 Uncertain 17_48151353_T->C 17 48151353 48151353 T C snp 2075.77 0/1 99 164 79 85 0.52 exonic rs2285524 ITGA3 AR synonymous SNV NM_002204 exon8 c.T1230C p.L410L 0.305312 0.3085 0.217669 0.2116 0.3443 Uncertain 17_48151908_T->C 17 48151908 48151908 T C snp 2348.77 0/1 99 184 85 99 0.54 intronic rs4793639 ITGA3 AR NM_002204 exon10 c.18095+10T>C 0.76278 0.5268 0.885822 0.8553 0.5516 Uncertain 17_48153906_GGG->- 17 48153906 48153908 GGG - indel 4521.73 0/1 99 191 82 109 0.57 intronic rs3216895 ITGA3 AR NM_002204 exon14 c.20144-41_20144-39delGGG 0.180711 0.2798 0.096487 0.1510 0.3335 Uncertain 17_48153924_T->C 17 48153924 48153924 T C snp 2553.77 0/1 99 183 82 101 0.55 intronic rs2301627 ITGA3 AR NM_002204 exon14 c.20144-23T>C 0.302516 0.2966 0.215077 0.2126 0.3426 Uncertain 17_48155425_G->A 17 48155425 48155425 G A snp 1328.77 0/1 99 124 71 53 0.43 exonic rs2230392 ITGA3 AR nonsynonymous SNV NM_002204 exon17 c.G2155A p.A719T 0.154553 0.2808 0.066354 0.1385 0.3270 0.59 T 1.000 P -0.972 T 0.384 T 0.072 T Pathogenic 17_48157501_A->T 17 48157501 48157501 A T snp 1094.77 0/1 99 77 35 42 0.55 intronic rs2301625 ITGA3 AR NM_002204 exon22 c.23822-124A>T 0.180112 0.2867 Uncertain 17_48157608_G->A 17 48157608 48157608 G A snp 2355.77 0/1 99 205 97 108 0.53 intronic rs1107439 ITGA3 AR NM_002204 exon22 c.23822-17G>A 0.177316 0.2857 0.092726 0.1614 0.3428 Uncertain 17_48157827_-->GGGT 17 48157827 48157827 - GGGT indel 429.73 0/1 99 35 23 12 0.34 intronic ITGA3 AR NM_002204 exon22 c.23936+88insGGGT Uncertain 17_48157869_T->A 17 48157869 48157869 T A snp 108.77 0/1 99 12 8 4 0.33 intronic rs2018134 ITGA3 AR NM_002204 exon22 c.23936+130T>A Uncertain 17_48158587_G->- 17 48158587 48158587 G - indel 203.73 0/1 99 11 4 7 0.64 intronic rs3834595 ITGA3 AR NM_002204 exon23 c.24870-86delG 0.176917 0.2867 Uncertain 17_48158843_G->C 17 48158843 48158843 G C snp 1353.77 0/1 99 104 50 54 0.52 intronic rs3785925 ITGA3 AR NM_002204 exon23 c.24969+71G>C 0.278754 0.3036 Uncertain 17_48172779_A->C 17 48172779 48172779 A C snp 2282.77 1/1 99 86 0 86 1.0 UTR5 rs7221362 PDK2 AU 0.838059 0.9524 0.730519 0.7537 0.9539 Uncertain 17_48174908_C->T 17 48174908 48174908 C T snp 2515.77 0/1 99 194 89 105 0.54 exonic rs9839 PDK2 AU synonymous SNV NM_001199899 exon2 c.C48T p.S16S 0.435104 0.38 0.355528 0.3581 0.3930 Uncertain 17_48184288_G->A 17 48184288 48184288 G A snp 3426.77 1/1 99 104 0 104 1.0 intronic rs847694 PDK2 AU NM_002611 exon5 c.11448+41G>A 0.816094 0.9762 0.714132 0.7513 0.9736 Uncertain 17_48184377_A->G 17 48184377 48184377 A G snp 5138.77 1/1 99 180 0 180 1.0 intronic rs847693 PDK2 AU NM_002611 exon6 c.11640-62A>G 0.816693 0.9752 Uncertain 17_48186131_-->CTC 17 48186131 48186131 - CTC indel 2913.73 1/1 99 71 0 71 1.0 intronic rs112609935 PDK2 AU NM_002611 exon9 c.13284+48insCTC 0.848043 0.9762 0.7609 0.9779 Uncertain 17_48186942_G->A 17 48186942 48186942 G A snp 77.77 0/1 99 7 4 3 0.43 intronic rs9899056 PDK2 AU NM_002611 exon10 c.13965+178G>A 0.404952 0.5685 Uncertain 17_48193184_C->A 17 48193184 48193184 C A snp 1593.77 0/1 99 146 79 67 0.46 intronic rs2293534 SAMD14 AU NM_174920 exon6 c.2937-9C>A 0.0477236 0.2351 0.000923 0.0164 0.2188 Uncertain 17_48212648_A->- 17 48212648 48212648 A - indel 978.73 1/1 72 24 0 24 1.0 UTR3 rs11317638 PPP1R9B AU 1 1 1.0000 1 Uncertain 17_48226445_-->C 17 48226445 48226445 - C indel 429.73 1/1 33 11 0 11 1.0 intronic rs112058541 PPP1R9B AU NM_032595 exon10 c.13812-62insC 1 1 Uncertain 17_48226811_C->T 17 48226811 48226811 C T snp 2173.77 0/1 99 163 65 98 0.6 exonic rs74676292 PPP1R9B AU unknown 0.169529 0.3333 0.130133 0.2190 0.4186 Uncertain 17_48227384_-->GC 17 48227384 48227384 - GC indel 4900.73 1/1 99 91 0 91 1.0 exonic rs10669850 PPP1R9B AU unknown 1 1 0.996537 0.9999 1 Uncertain 17_48227403_-->GC 17 48227403 48227403 - GC indel 3604.73 1/1 99 69 0 69 1.0 exonic rs10669851 PPP1R9B AU unknown 1 1 0.998592 1 1 Uncertain 17_48243504_C->T 17 48243504 48243504 C T snp 2541.77 1/1 99 97 0 97 1.0 intronic rs9911548 SGCA AR NM_000023 exon1 c.37+66C>T 0.988618 1 0.988830 0.9974 1 Uncertain 17_48245180_C->T 17 48245180 48245180 C T snp 2475.77 1/1 99 80 0 80 1.0 intronic rs2696297 SGCA AR NM_000023 exon3 c.1696+83C>T 0.867013 0.9653 Uncertain 17_48248267_A->T 17 48248267 48248267 A T snp 96.28 1/1 9 3 0 3 1.0 intronic rs2696294 SGCA AR NM_000023 exon8 c.4626+240A>T 0.948482 0.9831 Uncertain 17_48249450_C->G 17 48249450 48249450 C G snp 6587.77 1/1 99 232 0 232 1.0 ncRNA_exonic rs2696293 HILS1 AU 0.733227 0.9563 0.7988 0.955 Uncertain 17_48249801_C->A 17 48249801 48249801 C A snp 292.77 0/1 99 17 7 10 0.59 ncRNA_exonic rs2696292 HILS1 AU 0.167931 0.2897 Uncertain 17_48252804_T->C 17 48252804 48252804 T C snp 4982.77 1/1 99 194 0 194 1.0 UTR3 rs2696288 SGCA AR 0.921925 1 0.904920 0.9566 0.9998 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000153940.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 17_48258140_T->C 17 48258140 48258140 T C snp 791.77 1/1 57 34 1 33 0.97 intergenic rs2586484 SGCA AR 0.977236 1 0.9934 1 Uncertain 17_48258321_C->T 17 48258321 48258321 C T snp 2010.77 1/1 99 69 2 67 0.97 intergenic rs2586485 SGCA AR 0.78135 0.9563 0.8202 0.9563 Uncertain 17_48263021_C->T 17 48263021 48263021 C T snp 1237.77 0/1 99 94 41 53 0.56 intronic rs2249492 COL1A1 AD NM_000088 exon1 c.147+12C>T 0.485024 0.496 0.510303 0.5828 0.5189 Uncertain 17_48264717_C->T 17 48264717 48264717 C T snp 249.8 1/1 21 7 0 7 1.0 intronic rs2696245 COL1A1 AD NM_000088 exon6 c.1982-127C>T 0.975839 1 Uncertain 17_48265426_A->G 17 48265426 48265426 A G snp 2685.77 0/1 99 215 106 109 0.51 intronic rs2586488 COL1A1 AD NM_000088 exon8 c.2594-30A>G 0.611222 0.5 0.658465 0.6727 0.5375 Uncertain 17_48265495_T->C 17 48265495 48265495 T C snp 2482.77 1/1 99 82 0 82 1.0 exonic rs1800215 COL1A1 AD nonsynonymous SNV NM_000088 exon44 c.A3223G p.T1075A 0.978834 1 0.970952 0.9848 1 1 T 0.000 P -0.936 T 0.0 T 0.0 T Pathogenic 17_48266669_G->C 17 48266669 48266669 G C snp 6490.77 1/1 99 223 0 223 1.0 intronic rs2586489 COL1A1 AD NM_000088 exon12 c.3774+33G>C 0.9998 1 0.999846 0.9999 1 Uncertain 17_48268223_A->G 17 48268223 48268223 A G snp 4516.77 1/1 99 171 0 171 1.0 exonic rs2734272 COL1A1 AD synonymous SNV NM_000088 exon33 c.T2298C p.T766T 0.9998 1 0.999846 0.9998 0.9995 Uncertain 17_48268626_A->G 17 48268626 48268626 A G snp 3786.77 1/1 99 124 0 124 1.0 intronic rs2696246 COL1A1 AD NM_000088 exon20 c.5881-117A>G 0.9998 1 Uncertain 17_48269302_G->A 17 48269302 48269302 G A snp 7128.77 1/1 99 250 0 250 1.0 intronic rs2857396 COL1A1 AD NM_000088 exon22 c.6478-38G>A 0.908347 0.9851 0.851069 0.8735 0.9844 Uncertain 17_48269428_C->G 17 48269428 48269428 C G snp 3717.77 1/1 99 127 1 126 0.99 intronic rs117746137 COL1A1 AD NM_000088 exon22 c.6523+43C>G 0.0459265 0.124 0.008462 0.0211 0.1285 Uncertain 17_48270117_C->G 17 48270117 48270117 C G snp 4106.77 1/1 99 140 0 140 1.0 intronic rs41316671 COL1A1 AD NM_000088 exon25 c.7295-40C>G 0.0455272 0.123 0.009227 0.0196 0.1179 Uncertain 17_48271433_A->G 17 48271433 48271433 A G snp 869.77 0/1 99 57 23 34 0.6 intronic rs1007086 COL1A1 AD NM_000088 exon27 c.8540+31A>G 0.575879 0.5169 0.639859 0.6569 0.5405 Uncertain 17_48272055_C->T 17 48272055 48272055 C T snp 3089.77 1/1 99 111 1 110 0.99 intronic rs2253369 COL1A1 AD NM_000088 exon31 c.9219-26C>T 0.697284 0.6091 0.722179 0.6946 0.6576 Uncertain 17_48273464_T->C 17 48273464 48273464 T C snp 932.77 0/1 99 85 46 39 0.46 intronic rs2141279 COL1A1 AD NM_000088 exon37 c.10653-51T>C 0.842452 0.7133 0.875461 Uncertain 17_48274090_A->T 17 48274090 48274090 A T snp 952.77 0/1 99 86 48 38 0.44 intronic rs41317355 COL1A1 AD NM_000088 exon40 c.11169+59A>T 0.0091853 0.0437 Uncertain 17_48274291_T->G 17 48274291 48274291 T G snp 305.77 0/1 99 18 7 11 0.61 intronic rs2075555 COL1A1 AD NM_000088 exon41 c.11508-79T>G 0.744609 0.6756 Uncertain 17_48274309_T->C 17 48274309 48274309 T C snp 464.77 0/1 99 27 9 18 0.67 intronic rs2075554 COL1A1 AD NM_000088 exon41 c.11508-61T>C 0.744609 0.6766 0.829610 Uncertain 17_48276004_-->C 17 48276004 48276004 - C indel 2418.73 1/1 99 60 0 60 1.0 intronic rs397784761 COL1A1 AD NM_000088 exon46 c.13003+139insC 0.998602 1 Uncertain 17_48276971_G->C 17 48276971 48276971 G C snp 781.77 0/1 99 64 31 33 0.52 intronic rs2256835 COL1A1 AD NM_000088 exon49 c.14089+20G>C 0.518171 0.6478 0.553052 0.6187 0.6164 Uncertain 17_48277060_GCCCCAGGCCCCAGGCCCCAG->- 17 48277060 48277080 GCCCCAGGCCCCAGGCCCCAG - indel 2898.73 ./1 99 33 0 33 1.0 intronic rs150854949 COL1A1 AD NM_000088 exon50 c.14251-53_14251-33delGCCCCAGGCCCCAGGCCCCAG 0.514377 0.6518 Uncertain 17_48277060_GCCCCAG->- 17 48277060 48277066 GCCCCAG - indel 2898.73 ./1 99 33 0 33 1.0 intronic rs543074471 COL1A1 AD NM_000088 exon50 c.14251-53_14251-47delGCCCCAG 0.215056 0.121 Uncertain 17_48356260_G->A 17 48356260 48356260 G A snp 5546.77 ./1 99 227 0 227 1.0 exonic rs6504642 TMEM92 AU nonsynonymous SNV NM_001168215 exon5 c.G269A p.S90N 0.142772 0.1468 0.0918 0.1436 0.21 T 1 N -0.950 T 0.037 T 0.006 T Pathogenic 17_48356260_G->C 17 48356260 48356260 G C snp 5546.77 ./1 99 227 0 227 1.0 exonic rs6504642 TMEM92 AU nonsynonymous SNV NM_001168215 exon5 c.G269C p.S90T 0.543331 0.5982 0.596494 0.5438 0.6100 1 T 0.0 P -0.987 T 0.0 T 0.0 T Pathogenic 17_48356768_T->C 17 48356768 48356768 T C snp 288.77 0/1 99 13 4 9 0.69 UTR3 rs62060068 TMEM92 AU 0.0828674 0.1508 Uncertain 17_48432042_-->A 17 48432042 48432042 - A indel 2867.73 1/1 99 66 0 66 1.0 intronic rs11430429 XYLT2 AR NM_022167 exon3 c.8443+98insA 0.988019 1 Uncertain 17_48432681_G->A 17 48432681 48432681 G A snp 135.03 1/1 12 4 0 4 1.0 intronic rs2526538 XYLT2 AR NM_022167 exon5 c.9360-180G>A 0.567891 0.8889 Uncertain 17_48440522_-->CCA 17 48440522 48440522 - CCA indel 5581.73 1/1 99 112 0 112 1.0 intergenic rs10656180 XYLT2 AR 0.991414 0.996 Uncertain 17_48445699_C->T 17 48445699 48445699 C T snp 1811.77 1/1 99 66 0 66 1.0 intronic rs2586438 MRPL27 AU NM_016504 exon1 c.207+40C>T 0.598043 0.8889 0.514246 0.6094 0.8889 Uncertain 17_48560550_A->G 17 48560550 48560550 A G snp 95.28 1/1 9 4 0 4 1.0 intronic rs111413847 RSAD1 AU NM_018346 exon6 c.4455-150A>G Uncertain 17_48596444_T->C 17 48596444 48596444 T C snp 1465.77 0/1 99 149 85 64 0.43 exonic rs562003040 MYCBPAP AU synonymous SNV NM_032133 exon6 c.T891C p.D297D 0.000199681 0.001 8.338e-06 0.0001 Uncertain 17_48596499_-->G 17 48596499 48596499 - G indel 860.73 1/1 78 38 0 38 1.0 intronic rs398100536 MYCBPAP AU NM_032133 exon6 c.10544+49insG 0.230032 0.503 0.1277 0.4737 Uncertain 17_48598785_G->A 17 48598785 48598785 G A snp 2608.77 1/1 99 91 0 91 1.0 exonic rs1380657 MYCBPAP AU nonsynonymous SNV NM_032133 exon9 c.G1270A p.A424T 0.810703 0.8879 0.781716 0.7575 0.8790 0.66 T 0.0 P -1.003 T 0.0 T 0.0 T Pathogenic 17_48599195_T->C 17 48599195 48599195 T C snp 325.78 1/1 27 9 0 9 1.0 intronic rs9893172 MYCBPAP AU NM_032133 exon10 c.13427-138T>C 0.993011 1 Uncertain 17_48599450_A->T 17 48599450 48599450 A T snp 1580.77 1/1 99 54 0 54 1.0 intronic rs7216625 MYCBPAP AU NM_032133 exon10 c.13536+8A>T 0.810503 0.8879 0.782639 0.7457 0.8783 Uncertain 17_48602098_-->GTGAGAGA 17 48602098 48602098 - GTGAGAGA indel 1677.73 1/1 69 23 0 23 1.0 intronic rs373928628 MYCBPAP AU NM_032133 exon13 c.16331-139insGTGAGAGA 0.423522 0.5099 Uncertain 17_48603503_C->T 17 48603503 48603503 C T snp 3454.77 1/1 99 123 0 123 1.0 exonic rs9890721 MYCBPAP AU nonsynonymous SNV NM_032133 exon14 c.C2173T p.R725W 0.53774 0.8363 0.447716 0.5479 0.8360 0.08 T 0.0 P -0.958 T 0.001 T 0.001 T Pathogenic 17_48605419_G->A 17 48605419 48605419 G A snp 136.03 1/1 12 4 0 4 1.0 intronic rs898452 MYCBPAP AU NM_032133 exon16 c.19609-96G>A 0.735224 0.8859 Uncertain 17_48605780_C->G 17 48605780 48605780 C G snp 1581.77 1/1 99 48 0 48 1.0 intronic rs8067733 MYCBPAP AU NM_032133 exon16 c.19725+149C>G 0.769569 0.8859 Uncertain 17_48605826_G->C 17 48605826 48605826 G C snp 549.77 1/1 42 15 0 15 1.0 intronic rs8070515 MYCBPAP AU NM_032133 exon16 c.19725+195G>C 0.769768 0.8859 Uncertain 17_48606313_G->A 17 48606313 48606313 G A snp 819.77 1/1 60 31 0 31 1.0 intronic rs2290864 MYCBPAP AU NM_032133 exon18 c.20472-65G>A 0.76897 0.8859 Uncertain 17_48606537_C->G 17 48606537 48606537 C G snp 724.77 1/1 54 23 0 23 1.0 exonic rs1133818 MYCBPAP AU nonsynonymous SNV NM_032133 exon18 c.C2841G p.S947R 0.810104 0.8819 0.783561 0.7458 0.8726 1 T 0.000 P -0.968 T 0.0 T 0.0 T Pathogenic 17_48606606_G->A 17 48606606 48606606 G A snp 211.84 1/1 18 6 0 6 1.0 intronic rs4793659 MYCBPAP AU NM_032133 exon18 c.20643+57G>A 0.812101 0.8859 0.7441 0.8718 Uncertain 17_48607280_G->C 17 48607280 48607280 G C snp 4330.77 1/1 99 152 0 152 1.0 intronic rs6504671 MYCBPAP AU NM_032133 exon18 c.20643+731G>C 0.8127 0.8849 Uncertain 17_48607614_G->A 17 48607614 48607614 G A snp 549.77 1/1 42 17 0 17 1.0 intronic rs4794156 MYCBPAP AU NM_032133 exon18 c.20643+1065G>A 0.538938 0.8373 0.6409 0.8378 Uncertain 17_48608717_T->C 17 48608717 48608717 T C snp 1312.77 1/1 93 52 0 52 1.0 exonic rs1064055 MYCBPAP AU synonymous SNV NM_032133 exon19 c.T2883C p.T961T 0.814896 0.8859 0.786560 0.7483 0.8771 Uncertain 17_48608951_C->T 17 48608951 48608951 C T snp 54.74 1/1 6 2 0 2 1.0 downstream rs2277627 MYCBPAP AU 0.758387 0.8859 Uncertain 17_48610098_A->G 17 48610098 48610098 A G snp 56.74 1/1 6 2 0 2 1.0 UTR5 rs936451 EPN3 AU 0.760783 0.8859 Uncertain 17_48610272_G->C 17 48610272 48610272 G C snp 1086.77 1/1 78 39 0 39 1.0 UTR5 rs755046 EPN3 AU 0.804313 0.8859 0.7587 0.8712 0.47 T 0.000 P -1.052 T 0.0 T 0.0 T Uncertain 17_48613837_A->G 17 48613837 48613837 A G snp 4271.77 1/1 99 147 0 147 1.0 UTR5 rs3785915 EPN3 AU 0.800719 0.9097 0.7528 0.9194 1 T 0.000 P -0.983 T 0.0 T 0.001 T Uncertain 17_48617493_A->G 17 48617493 48617493 A G snp 1450.77 1/1 99 56 0 56 1.0 intronic rs62059698 EPN3 AU NM_017957 exon6 c.3690-114A>G 0.34984 0.8363 Uncertain 17_48625543_G->A 17 48625543 48625543 G A snp 2568.77 1/1 99 91 0 91 1.0 intronic rs12943759 SPATA20 AU NM_001258372 exon2 c.1074-100G>A 0.429712 0.8562 0.5261 0.8798 Uncertain 17_48629458_A->G 17 48629458 48629458 A G snp 3260.77 1/1 99 121 0 121 1.0 exonic rs8065903 SPATA20 AU nonsynonymous SNV NM_001258372 exon13 c.A1826G p.K609R 0.860623 0.9623 0.811625 0.7864 0.9660 0.61 T 0.000 P -0.994 T 0.0 T 0.001 T Pathogenic 17_48646376_-->GTGTGTGTGTGTTG 17 48646376 48646376 - GTGTGTGTGTGTTG indel 1909.73 1/1 91 31 0 31 1.0 intronic rs58450142 CACNA1G AD NM_198380 exon2 c.7522+34insGTGTGTGTGTGTTG Uncertain 17_48647011_T->G 17 48647011 48647011 T G snp 5411.77 1/1 99 210 0 210 1.0 intronic rs12946808 CACNA1G AD NM_198380 exon4 c.8246-55T>G 0.551717 0.9127 Uncertain 17_48649777_C->G 17 48649777 48649777 C G snp 141.03 1/1 12 4 0 4 1.0 intronic rs916979 CACNA1G AD NM_198380 exon6 c.11094-137C>G 0.526957 0.9117 Uncertain 17_48652833_C->T 17 48652833 48652833 C T snp 258.8 1/1 21 7 0 7 1.0 intronic rs16949166 CACNA1G AD NM_198380 exon8 c.14083-70C>T 0.60603 0.9167 Uncertain 17_48652875_A->G 17 48652875 48652875 A G snp 728.77 1/1 54 19 0 19 1.0 intronic rs198550 CACNA1G AD NM_198380 exon8 c.14083-28A>G 0.696086 0.9355 0.574247 0.6267 0.9392 Uncertain 17_48653354_C->A 17 48653354 48653354 C A snp 4210.77 1/1 99 158 0 158 1.0 exonic rs12449998 CACNA1G AD synonymous SNV NM_018896 exon8 c.C1591A p.R531R 0.523962 0.9177 0.374232 0.5554 0.9191 Uncertain 17_48655493_A->G 17 48655493 48655493 A G snp 246.8 1/1 21 7 0 7 1.0 intronic rs198551 CACNA1G AD NM_198380 exon9 c.16728-55A>G 0.69369 0.9355 Uncertain 17_48656088_G->A 17 48656088 48656088 G A snp 80.28 1/1 9 3 0 3 1.0 intronic rs198552 CACNA1G AD NM_198380 exon9 c.17105+163G>A 0.698682 0.9345 Uncertain 17_48667734_A->G 17 48667734 48667734 A G snp 130.03 1/1 12 4 0 4 1.0 intronic rs12936750 CACNA1G AD NM_198380 exon10 c.29011-97A>G 0.586661 0.9008 Uncertain 17_48668013_G->C 17 48668013 48668013 G C snp 2401.77 1/1 99 92 0 92 1.0 intronic rs8064333 CACNA1G AD NM_198380 exon10 c.29163+30G>C 0.565495 0.9008 0.395161 0.4568 0.8851 Uncertain 17_48668022_T->- 17 48668022 48668022 T - indel 3841.73 1/1 99 90 0 90 1.0 intronic rs34926473 CACNA1G AD NM_198380 exon10 c.29163+39delT 0.565495 0.9008 0.399359 0.4550 0.8845 Uncertain 17_48668091_A->C 17 48668091 48668091 A C snp 687.77 1/1 51 21 0 21 1.0 intronic rs8066026 CACNA1G AD NM_198380 exon10 c.29163+108A>C 0.565495 0.9008 Uncertain 17_48668653_A->G 17 48668653 48668653 A G snp 354.78 1/1 27 11 0 11 1.0 intronic rs7359536 CACNA1G AD NM_198380 exon11 c.29975-142A>G 0.565895 0.9008 Uncertain 17_48668720_C->A 17 48668720 48668720 C A snp 956.77 1/1 69 35 0 35 1.0 intronic rs7359527 CACNA1G AD NM_198380 exon11 c.29975-75C>A 0.565895 0.9008 Uncertain 17_48669026_T->C 17 48669026 48669026 T C snp 3725.77 1/1 99 120 0 120 1.0 intronic rs11079918 CACNA1G AD NM_198380 exon11 c.30161+45T>C 0.451078 0.9018 0.279764 0.4324 0.8924 Uncertain 17_48678325_A->T 17 48678325 48678325 A T snp 3855.77 1/1 99 124 0 124 1.0 intronic rs198530 CACNA1G AD NM_198380 exon19 c.39591-86A>T 0.998203 1 Uncertain 17_48683200_G->C 17 48683200 48683200 G C snp 912.77 0/1 99 53 18 35 0.66 intronic rs3744521 CACNA1G AD NM_198380 exon23 c.44438-58G>C 0.413339 0.8849 Uncertain 17_48696879_-->TGTGTGTGTGTTTGTG 17 48696879 48696879 - TGTGTGTGTGTTTGTG indel 1507.73 0/1 99 29 20 9 0.31 intronic rs372507478 CACNA1G AD NM_198380 exon33 c.58223-164insTGTGTGTGTGTTTGTG 0.101238 0.0853 Uncertain 17_48701692_A->C 17 48701692 48701692 A C snp 242.77 0/1 99 113 69 44 0.39 intronic rs771401599 CACNA1G AD NM_198380 exon35 c.62900-28A>C 0.0006 0.0036 Uncertain 17_48701697_T->C 17 48701697 48701697 T C snp 430.77 0/1 99 116 63 53 0.46 intronic rs775057923 CACNA1G AD NM_198380 exon35 c.62900-23T>C 0.0004 0.0042 Uncertain 17_48701800_C->T 17 48701800 48701800 C T snp 2551.77 0/1 99 210 104 106 0.5 exonic rs2301835 CACNA1G AD synonymous SNV NM_018896 exon37 c.C6309T p.L2103L 0.115815 0.0982 0.098050 0.1374 0.1507 Uncertain 17_48703752_T->C 17 48703752 48703752 T C snp 3562.77 0/1 99 250 120 130 0.52 exonic rs739925 CACNA1G AD synonymous SNV NM_018896 exon38 c.T6774C p.P2258P 0.367212 0.1786 0.457224 0.4165 0.1804 Uncertain 17_48712705_G->A 17 48712705 48712705 G A snp 3841.77 1/1 99 133 0 133 1.0 intronic rs12604031 ABCC3 AU NM_003786 exon1 c.45+363G>A 0.763778 0.9147 0.7832 0.8462 0 D 0.000 P -0.961 T Uncertain 17_48712711_C->G 17 48712711 48712711 C G snp 3955.77 1/1 99 133 0 133 1.0 intronic rs9890046 ABCC3 AU NM_003786 exon1 c.45+369C>G 0.877396 0.999 0.8513 1 0 D 0.000 P -1.020 T Uncertain 17_48713096_C->T 17 48713096 48713096 C T snp 174.9 1/1 15 5 0 5 1.0 intronic rs8070592 ABCC3 AU NM_003786 exon1 c.45+754C>T 0.787939 0.9494 Uncertain 17_48720808_G->T 17 48720808 48720808 G T snp 292.77 0/1 99 21 12 9 0.43 intronic rs78873696 ABCC3 AU NM_003786 exon1 c.45+8466G>T 0.0521166 0.0823 Uncertain 17_48746135_C->T 17 48746135 48746135 C T snp 610.77 0/1 99 41 19 22 0.54 intronic rs879459 ABCC3 AU NM_003786 exon15 c.33916-78C>T 0.796526 0.6667 Uncertain 17_48746923_G->C 17 48746923 48746923 G C snp 1440.77 0/1 99 120 63 57 0.47 intronic rs4794176 ABCC3 AU NM_003786 exon17 c.34592+34G>C 0.833466 0.6746 0.866139 0.8486 0.6902 Uncertain 17_48750802_G->A 17 48750802 48750802 G A snp 2532.77 0/1 99 231 122 109 0.47 intronic rs2240801 ABCC3 AU NM_003786 exon19 c.38532-27G>A 0.00599042 0.0238 0.000615 0.0032 0.0225 Uncertain 17_48752890_G->A 17 48752890 48752890 G A snp 539.77 0/1 99 33 9 24 0.73 intronic rs2072366 ABCC3 AU NM_003786 exon20 c.40540+53G>A 0.630391 0.7222 Uncertain 17_48755002_G->A 17 48755002 48755002 G A snp 656.77 0/1 99 60 37 23 0.38 intronic rs2240802 ABCC3 AU NM_003786 exon24 c.42807-102G>A 0.241414 0.1458 Uncertain 17_48761105_C->T 17 48761105 48761105 C T snp 2341.77 0/1 99 190 91 99 0.52 exonic rs2277624 ABCC3 AU synonymous SNV NM_003786 exon27 c.C3942T p.H1314H 0.286941 0.2411 0.264647 0.2478 0.2487 Uncertain 17_48776886_A->G 17 48776886 48776886 A G snp 1076.77 0/1 99 103 56 47 0.46 exonic rs142677234 ANKRD40 AU nonsynonymous SNV NM_052855 exon3 c.T652C p.S218P 0.00758786 0.0268 0.000769 0.0054 0.0290 0.21 T 1 N -1.020 T 0.006 T 0.005 T Pathogenic 17_48777822_G->- 17 48777822 48777822 G - indel 187.73 0/1 99 20 11 9 0.45 intronic rs200307796 ANKRD40 AU NM_052855 exon4 c.4571-106delG 0.316693 0.246 Uncertain 17_48785100_C->A 17 48785100 48785100 C A snp 438.77 0/1 99 22 7 15 0.68 UTR5 rs3744519 ANKRD40 AU 0.236821 0.1548 Uncertain 17_48797210_-->G 17 48797210 48797210 - G indel 4524.73 1/1 99 119 0 119 1.0 intronic rs11398903 LUC7L3 AU NM_016424 exon1 c.99+18insG 0.9998 1 0.999435 1.0000 1 Uncertain 17_48801314_C->T 17 48801314 48801314 C T snp 683.77 0/1 99 57 31 26 0.46 intronic rs12449971 LUC7L3 AU NM_016424 exon1 c.99+4122C>T 0.309505 0.3552 0.3342 0.4259 Uncertain 17_48821201_T->C 17 48821201 48821201 T C snp 800.77 0/1 99 81 49 32 0.4 intronic rs9894501 LUC7L3 AU NM_016424 exon6 c.24078+30T>C 0.669329 0.625 0.667769 0.5917 0.6390 Uncertain 17_48821207_T->C 17 48821207 48821207 T C snp 727.77 0/1 99 74 45 29 0.39 intronic rs9894508 LUC7L3 AU NM_016424 exon6 c.24078+36T>C 0.447883 0.4018 0.497155 0.4813 0.4044 Uncertain 17_48823815_C->T 17 48823815 48823815 C T snp 273.77 0/1 54 11 2 9 0.82 intronic rs2302288 LUC7L3 AU NM_016424 exon9 c.26809-87C>T 0.589058 0.4038 Uncertain 17_48834023_A->G 17 48834023 48834023 A G snp 96.28 1/1 9 4 0 4 1.0 intergenic rs3760403 LUC7L3 AU 0.388179 0.4097 0.4054 0.3692 Uncertain 17_48834032_G->A 17 48834032 48834032 G A snp 125.8 0/1 21 5 1 4 0.8 intergenic rs3760402 LUC7L3 AU 0.369409 0.4067 0.3470 0.3692 Uncertain 17_48844891_G->A 17 48844891 48844891 G A snp 111.77 0/1 60 6 2 4 0.67 upstream rs3744518 LINC00483 AU 0.0754792 0.1171 Uncertain 17_48913571_C->T 17 48913571 48913571 C T snp 517.77 0/1 99 51 29 22 0.43 intronic rs4420571 WFIKKN2 AU NM_175575 exon1 c.210+63C>T 0.107428 0.0873 Uncertain 17_48940422_T->C 17 48940422 48940422 T C snp 1580.77 0/1 99 135 70 65 0.48 exonic rs4626 TOB1 AU synonymous SNV NM_001243885 exon2 c.A540G p.K180K 0.63139 0.501 0.704213 0.6776 0.4660 Uncertain 17_49054439_T->C 17 49054439 49054439 T C snp 1082.77 0/1 99 97 54 43 0.44 intronic rs9332407 SPAG9 AU NM_003971 exon4 c.10836-29T>C 0.344848 0.2312 0.426265 0.4246 0.2196 Uncertain 17_49060107_T->G 17 49060107 49060107 T G snp 332.77 0/1 99 29 14 15 0.52 intronic rs12453116 SPAG9 AU NM_003971 exon6 c.16401+74T>G 0.211062 0.2302 Uncertain 17_49067763_T->C 17 49067763 49067763 T C snp 198.77 0/1 99 32 23 9 0.28 intronic rs9899816 SPAG9 AU NM_003971 exon11 c.24178-47T>C 0.439896 0.4246 0.475550 0.4652 0.4125 Uncertain 17_49072331_A->G 17 49072331 49072331 A G snp 115.77 0/1 99 9 3 6 0.67 intronic rs117191412 SPAG9 AU NM_003971 exon13 c.28785-86A>G 0.0201677 0.0972 Uncertain 17_49076908_A->- 17 49076908 49076908 A - indel 51.73 0/1 89 19 12 7 0.37 intronic rs61490626 SPAG9 AU NM_001130527 exon17 c.33216+60delA 0.251597 0.2421 Uncertain 17_49082554_T->A 17 49082554 49082554 T A snp 1155.77 0/1 99 117 63 54 0.46 intronic rs200037489 SPAG9 AU NM_003971 exon19 c.38940-18T>A 0.000599042 0.002 0.000231 0.0006 0.0034 Uncertain 17_49084471_-->GT 17 49084471 49084471 - GT indel 214.73 0/1 99 12 4 8 0.67 intronic rs3075108 SPAG9 AU NM_003971 exon21 c.40997-158insGT Uncertain 17_49097501_C->A 17 49097501 49097501 C A snp 916.77 0/1 99 132 85 47 0.36 intronic rs2286649 SPAG9 AU NM_003971 exon23 c.53887-18C>A 0.209864 0.2302 0.223700 0.2860 0.2202 Uncertain 17_49124845_-->A 17 49124845 49124845 - A indel 220.73 0/1 99 26 14 12 0.46 intronic rs11400140 SPAG9 AU NM_003971 exon26 c.81198+15insA 0.541933 0.4345 0.606845 0.5515 0.4286 Uncertain 17_49156907_A->G 17 49156907 49156907 A G snp 687.77 0/1 99 63 30 33 0.52 intronic rs8081821 SPAG9 AU NM_003971 exon28 c.113312-37A>G 0.279353 0.2341 0.306781 0.3075 0.2253 Uncertain 17_49197654_-->C 17 49197654 49197654 - C indel 1011.73 1/1 84 28 0 28 1.0 intronic rs397805057 SPAG9 AU NM_003971 exon29 c.154082-60insC Uncertain 17_49231623_C->G 17 49231623 49231623 C G snp 455.77 0/1 99 38 17 21 0.55 intronic rs34431255 NME1 AD,AO 0.362819 0.3849 Uncertain 17_49231627_G->A 17 49231627 49231627 G A snp 545.77 0/1 99 42 19 23 0.55 intronic rs11556835 NME1 AD,AO 0.489018 0.4008 Uncertain 17_49237562_C->T 17 49237562 49237562 C T snp 760.77 0/1 99 66 33 33 0.5 intronic rs2041296 NME1 AD,AO NM_198175 exon4 c.5708+120C>T 0.214856 0.244 0.2365 0.2951 Uncertain 17_49239036_C->A 17 49239036 49239036 C A snp 790.77 0/1 99 67 33 34 0.51 intronic rs2159359 NME1 AD,AO NM_198175 exon6 c.7354-52C>A 0.234824 0.2431 Uncertain 17_49245901_G->A 17 49245901 49245901 G A snp 216.77 0/1 99 12 5 7 0.58 intronic rs3744660 NME1-NME2 AU NM_001018136 exon6 c.12689+197G>A 0.141973 0.1796 Uncertain 17_49271018_G->A 17 49271018 49271018 G A snp 38.77 0/1 33 3 1 2 0.67 intronic rs12453388 MBTD1 AU NM_017643 exon4 c.12935+147G>A 0.342252 0.3452 Uncertain 17_49281133_G->A 17 49281133 49281133 G A snp 1017.77 0/1 99 125 77 48 0.38 intronic rs17574235 MBTD1 AU NM_017643 exon10 c.23215-18G>A 0.425519 0.6091 0.368984 0.4745 0.5986 Uncertain 17_49338257_C->T 17 49338257 49338257 C T snp 533.77 0/1 99 50 25 25 0.5 exonic rs14180 UTP18 AU synonymous SNV NM_016001 exon1 c.C312T p.D104D 0.058107 0.0873 0.077447 0.1370 0.1837 Uncertain 17_49346457_G->A 17 49346457 49346457 G A snp 83.77 0/1 63 5 2 3 0.6 intronic rs11079953 UTP18 AU NM_016001 exon4 c.8320+192G>A 0.425519 0.6071 Uncertain 17_49350802_A->C 17 49350802 49350802 A C snp 1566.77 0/1 99 132 65 67 0.51 exonic rs2318789 UTP18 AU synonymous SNV NM_016001 exon5 c.A702C p.G234G 0.426118 0.6071 0.373747 0.4553 0.5944 Uncertain 17_49371230_G->C 17 49371230 49371230 G C snp 178.77 0/1 99 18 10 8 0.44 intronic rs12940196 UTP18 AU NM_016001 exon12 c.33318-33G>C 0.423323 0.6071 0.374383 0.4555 0.5917 Uncertain 17_49371505_C->G 17 49371505 49371505 C G snp 161.77 0/1 61 7 2 5 0.71 intronic rs917654 UTP18 AU NM_016001 exon12 c.33461+99C>G 0.676917 0.6508 Uncertain 17_49710713_G->A 17 49710713 49710713 G A snp 392.77 0/1 99 35 20 15 0.43 intronic rs3815371 CA10 AU NM_020178 exon2 c.1892-123G>A 0.363818 0.3452 Uncertain 17_49711045_A->G 17 49711045 49711045 A G snp 188.77 0/1 99 14 5 9 0.64 intronic rs2286634 CA10 AU NM_020178 exon2 c.2067+34A>G 0.286542 0.372 0.2661 0.3784 Uncertain 17_49713205_G->T 17 49713205 49713205 G T snp 1219.77 0/1 99 107 55 52 0.49 intronic rs10514986 CA10 AU NM_020178 exon3 c.4271-10G>T 0.359824 0.3234 0.414193 0.4414 0.3149 Uncertain 17_49713300_G->A 17 49713300 49713300 G A snp 1517.77 0/1 99 149 78 71 0.48 exonic rs11870209 CA10 AU synonymous SNV NM_001082533 exon8 c.C705T p.Y235Y 0.364018 0.3442 0.414885 0.4424 0.3408 Uncertain 17_49726454_C->T 17 49726454 49726454 C T snp 1055.77 0/1 99 109 63 46 0.42 intronic rs537833515 CA10 AU NM_020178 exon4 c.17598-88C>T 0.000199681 0.001 Uncertain 17_50149899_-->T 17 50149899 50149899 - T indel 214.74 1/1 27 17 0 17 1.0 intronic rs397691215 CA10 AU NM_020178 exon8 c.440809+146insT 0.798522 0.8433 Uncertain 17_50212157_C->T 17 50212157 50212157 C T snp 415.77 0/1 99 25 10 15 0.6 intronic rs77598338 CA10 AU NM_020178 exon9 c.526141-22928C>T 0.00738818 0.0288 Uncertain 17_50234899_G->C 17 50234899 50234899 G C snp 224.84 1/1 18 6 0 6 1.0 intronic rs2938135 CA10 AU NM_020178 exon9 c.526141-186G>C 0.736621 0.6954 Uncertain 17_51062875_G->T 17 51062875 51062875 G T snp 323.77 0/1 99 23 12 11 0.48 upstream C17orf112 AU Uncertain 17_51900265_G->A 17 51900265 51900265 G A snp 895.77 1/1 66 24 0 24 1.0 UTR5 rs7215075 KIF2B AU 0.338259 0.5843 Uncertain 17_51900433_C->G 17 51900433 51900433 C G snp 2920.77 0/1 99 237 114 123 0.52 exonic rs7216557 KIF2B AU synonymous SNV NM_032559 exon1 c.C39G p.L13L 0.00299521 0.0139 0.0006 0.0073 Uncertain 17_51901084_A->G 17 51901084 51901084 A G snp 4993.77 1/1 99 170 0 170 1.0 exonic rs3803825 KIF2B AU synonymous SNV NM_032559 exon1 c.A690G p.L230L 0.762181 0.8145 0.835537 0.8062 0.8066 Uncertain 17_51901385_C->T 17 51901385 51901385 C T snp 6453.77 1/1 99 212 0 212 1.0 exonic rs3803826 KIF2B AU synonymous SNV NM_032559 exon1 c.C991T p.L331L 0.334465 0.5863 0.286868 0.3572 0.6043 Uncertain 17_51901643_C->T 17 51901643 51901643 C T snp 1985.77 1/1 99 63 0 63 1.0 exonic rs4561518 KIF2B AU nonsynonymous SNV NM_032559 exon1 c.C1249T p.P417S 0.760184 0.8145 0.827003 0.7988 0.8062 1 T 0.004 P -0.940 T 0.0 T 0.0 T Pathogenic 17_51901703_C->G 17 51901703 51901703 C G snp 1569.77 1/1 99 53 0 53 1.0 exonic rs4561519 KIF2B AU nonsynonymous SNV NM_032559 exon1 c.C1309G p.R437G 0.76238 0.8145 0.835384 0.8060 0.8066 1 T 0.000 P -0.959 T 0.0 T 0.0 T Pathogenic 17_51902252_C->T 17 51902252 51902252 C T snp 3650.77 1/1 99 128 0 128 1.0 exonic rs3826355 KIF2B AU synonymous SNV NM_032559 exon1 c.C1858T p.L620L 0.760184 0.8145 0.827234 0.7991 0.8065 Uncertain 17_51902492_-->AAT 17 51902492 51902492 - AAT indel 1700.73 1/1 93 33 0 33 1.0 UTR3 rs10693171 KIF2B AU Uncertain 17_52989920_G->A 17 52989920 52989920 G A snp 152.77 0/1 99 12 6 6 0.5 intronic rs72829469 TOM1L1 AU NM_005486 exon4 c.11800-106G>A 0.204273 0.1052 Uncertain 17_52991027_AAAAAA->- 17 52991027 52991032 AAAAAA - indel 991.73 0/1 99 22 5 17 0.77 intronic rs571197770 TOM1L1 AU NM_005486 exon5 c.12882-81_12882-76delAAAAAA 0.265375 0.1845 Uncertain 17_52992129_A->- 17 52992129 52992129 A - indel 3981.73 0/1 99 227 110 117 0.52 intronic rs3834969 TOM1L1 AU NM_005486 exon6 c.13878+25delA 0.240815 0.244 0.290176 0.2712 0.2374 Uncertain 17_52992268_G->A 17 52992268 52992268 G A snp 117.77 0/1 97 7 3 4 0.57 intronic rs9910653 TOM1L1 AU NM_005486 exon6 c.13878+164G>A 0.241014 0.244 Uncertain 17_52993346_G->A 17 52993346 52993346 G A snp 932.77 1/1 69 24 0 24 1.0 intronic rs2934935 TOM1L1 AU NM_005486 exon7 c.14997+123G>A 0.990216 0.9534 Uncertain 17_53007655_T->G 17 53007655 53007655 T G snp 847.77 1/1 63 23 0 23 1.0 intronic rs12939352 TOM1L1 AU NM_005486 exon8 c.29341+88T>G 0.506789 0.3601 Uncertain 17_53013980_A->G 17 53013980 53013980 A G snp 194.77 0/1 99 21 10 11 0.52 intronic rs17745189 TOM1L1 AU NM_005486 exon9 c.35783-29A>G 0.152157 0.131 0.210275 0.2407 0.1536 Uncertain 17_53026824_AAAAG->- 17 53026824 53026828 AAAAG - indel 2882.73 0/1 99 76 35 41 0.54 intronic rs71159274 TOM1L1 AU NM_005486 exon13 c.48652-54_48652-50delAAAAG 0.151558 0.129 Uncertain 17_53027561_T->A 17 53027561 53027561 T A snp 270.77 0/1 99 30 17 13 0.43 intronic rs17745201 TOM1L1 AU NM_005486 exon14 c.49261+74T>A 0.0688898 0.0526 Uncertain 17_53038430_A->G 17 53038430 53038430 A G snp 809.77 1/1 60 24 0 24 1.0 intronic rs4793784 TOM1L1 AU NM_005486 exon16 c.60369-165A>G 0.414537 0.2341 Uncertain 17_53038654_A->C 17 53038654 53038654 A C snp 1309.77 0/1 99 103 55 48 0.47 exonic rs1802212 COX11 AU nonsynonymous SNV NM_001162861 exon4 c.T682G p.S228A 0.151558 0.129 0.2067 0.1246 Pathogenic 17_53038745_A->G 17 53038745 53038745 A G snp 561.77 0/1 99 58 32 26 0.45 UTR3 rs17817901 COX11 AU 0.151558 0.129 Uncertain 17_53038783_G->A 17 53038783 53038783 G A snp 480.77 0/1 99 36 18 18 0.5 UTR3 rs1057980 COX11 AU 0.247005 0.1052 Uncertain 17_53041965_T->C 17 53041965 53041965 T C snp 345.77 0/1 99 21 8 13 0.62 intronic rs12951542 COX11 AU NM_001162862 exon3 c.3432-92T>C 0.151558 0.129 Uncertain 17_53042017_C->G 17 53042017 53042017 C G snp 372.77 0/1 99 52 31 21 0.4 intronic rs55801837 COX11 AU NM_001162862 exon3 c.3432-40C>G 0.26238 0.1052 0.313125 0.2731 0.0821 Uncertain 17_53042024_A->- 17 53042024 53042024 A - indel 616.73 0/1 99 54 33 21 0.39 intronic rs56131849 COX11 AU NM_001162862 exon3 c.3432-33delA 0.190895 0.1052 0.238932 0.2519 0.0821 Uncertain 17_53063743_C->T 17 53063743 53063743 C T snp 139.03 1/1 12 4 0 4 1.0 intronic rs958556 STXBP4 AU NM_178509 exon3 c.47+116C>T 0.926717 0.999 Uncertain 17_53076799_G->A 17 53076799 53076799 G A snp 1066.77 0/1 99 102 55 47 0.46 exonic rs1156287 STXBP4 AU nonsynonymous SNV NM_178509 exon5 c.G274A p.G92R 0.852436 0.8958 0.780870 0.7803 0.8976 1 T 0.0 P -0.968 T 0.0 T 0.0 T Pathogenic 17_53076986_G->A 17 53076986 53076986 G A snp 1690.77 0/1 99 164 91 73 0.45 intronic rs11658717 STXBP4 AU NM_178509 exon6 c.13412-6G>A 0.771366 0.8958 0.692556 0.7559 0.8973 0.002 P Uncertain 17_53111383_A->C 17 53111383 53111383 A C snp 83.77 0/1 30 4 1 3 0.75 intronic rs1484776 STXBP4 AU NM_178509 exon10 c.47948-145A>C 0.78135 0.8958 Uncertain 17_53120855_A->G 17 53120855 53120855 A G snp 329.77 0/1 99 24 12 12 0.5 intronic rs1894936 STXBP4 AU NM_178509 exon11 c.57106+169A>G 0.204473 0.1518 Uncertain 17_53158361_G->A 17 53158361 53158361 G A snp 481.77 0/1 99 47 26 21 0.45 intronic rs2628302 STXBP4 AU NM_178509 exon16 c.94830-49G>A 0.492212 0.3879 0.523066 0.5086 0.3747 Uncertain 17_53342796_-->TTTC 17 53342796 53342796 - TTTC indel 11622.7 1/1 99 182 0 182 1.0 UTR5 rs10635027 HLF AU 0.755391 0.7252 0.694541 0.7421 0.6221 Uncertain 17_53343044_C->A 17 53343044 53343044 C A snp 204.77 0/1 99 20 11 9 0.45 intronic rs2302738 HLF AU NM_002126 exon1 c.115+84C>A 0.109425 0.2242 Uncertain 17_53392544_T->C 17 53392544 53392544 T C snp 34.77 0/1 63 7 5 2 0.29 intronic rs2287222 HLF AU NM_002126 exon3 c.49742-43T>C 0.201677 0.499 0.047993 0.1171 0.4936 Uncertain 17_53392852_G->A 17 53392852 53392852 G A snp 694.77 0/1 99 78 50 28 0.36 intronic rs2287223 HLF AU NM_002126 exon3 c.49963+44G>A 0.573882 0.8135 0.442949 0.4519 0.7984 Uncertain 17_53392909_A->- 17 53392909 53392909 A - indel 360.73 0/1 99 24 12 12 0.5 intronic rs3841527 HLF AU NM_002126 exon3 c.49963+101delA 0.223243 0.498 Uncertain 17_53478675_A->G 17 53478675 53478675 A G snp 137.03 1/1 12 5 0 5 1.0 intronic rs3744308 MMD AU NM_012329 exon2 c.7135-154A>G 0.792133 0.5556 Uncertain 17_53485186_C->T 17 53485186 53485186 C T snp 2034.77 1/1 99 81 0 81 1.0 splicing rs2286806 MMD AU NM_012329 exon4 c.13487+5C>T 0.477037 0.5992 0.483854 0.5275 0.5844 Pathogenic 17_53498846_C->T 17 53498846 53498846 C T snp 629.77 1/1 48 19 0 19 1.0 intronic rs75646226 MMD AU NM_012329 exon7 c.27336-184C>T 0.189497 0.1627 Uncertain 17_53498990_T->C 17 53498990 53498990 T C snp 4504.77 1/1 99 165 0 165 1.0 intronic rs78612327 MMD AU NM_012329 exon7 c.27336-40T>C 0.178115 0.1637 0.236466 0.2748 0.1642 Uncertain 17_53828706_C->G 17 53828706 53828706 C G snp 1297.77 1/1 96 41 0 41 1.0 UTR5 rs890488 PCTP AU 0.837061 0.9415 Uncertain 17_53844525_C->T 17 53844525 53844525 C T snp 363.77 1/1 30 11 0 11 1.0 intronic rs12452118 PCTP AU NM_021213 exon2 c.16231-170C>T 0.618011 0.8522 Uncertain 17_53844834_T->- 17 53844834 53844834 T - indel 2724.73 1/1 99 95 0 95 1.0 intronic rs57156382 PCTP AU NM_021213 exon2 c.16349+21delT 0.932708 0.9296 0.923482 0.9293 0.9486 Uncertain 17_53844847_C->T 17 53844847 53844847 C T snp 2368.77 1/1 99 85 0 85 1.0 intronic rs35430620 PCTP AU NM_021213 exon2 c.16349+34C>T 0.619609 0.8571 0.615408 0.7549 0.8758 Uncertain 17_53851071_A->G 17 53851071 53851071 A G snp 998.77 1/1 72 37 0 37 1.0 intronic rs2960063 PCTP AU NM_021213 exon4 c.22620-13A>G 0.777955 0.9405 0.808165 0.9078 0.9365 Uncertain 17_53851078_T->C 17 53851078 53851078 T C snp 1040.77 1/1 75 38 1 37 0.97 intronic rs2912558 PCTP AU NM_021213 exon4 c.22620-6T>C 0.777955 0.9405 0.808165 0.9073 0.9362 Uncertain 17_53851228_C->T 17 53851228 53851228 C T snp 2013.77 1/1 99 78 0 78 1.0 exonic rs2960062 PCTP AU synonymous SNV NM_001102402 exon4 c.C267T p.I89I 0.777955 0.9405 0.808165 0.9098 0.9380 Uncertain 17_53852111_T->C 17 53852111 53852111 T C snp 1679.77 1/1 99 67 0 67 1.0 intronic rs2960061 PCTP AU NM_021213 exon5 c.23688-41T>C 0.670128 0.9276 0.673074 0.8095 0.9260 Uncertain 17_54305550_G->C 17 54305550 54305550 G C snp 290.77 0/1 99 16 6 10 0.63 intronic rs741126 ANKFN1 AU NM_153228 exon2 c.74448+232G>C 0.211462 0.2232 Uncertain 17_54428067_C->T 17 54428067 54428067 C T snp 201.77 0/1 99 18 7 11 0.61 intronic rs2215756 ANKFN1 AU NM_153228 exon4 c.197256-59C>T 0.469249 0.5585 Uncertain 17_54428436_A->G 17 54428436 54428436 A G snp 64.77 0/1 93 15 11 4 0.27 intronic rs17759670 ANKFN1 AU NM_153228 exon4 c.197458+108A>G 0.469848 0.5585 Uncertain 17_54450038_C->A 17 54450038 54450038 C A snp 886.77 1/1 63 34 0 34 1.0 exonic rs957724 ANKFN1 AU synonymous SNV NM_153228 exon6 c.C642A p.L214L 0.615615 0.9573 0.535676 0.6653 0.9689 Uncertain 17_54450134_G->A 17 54450134 54450134 G A snp 1862.77 1/1 99 68 0 68 1.0 exonic rs8069322 ANKFN1 AU synonymous SNV NM_153228 exon6 c.G738A p.K246K 0.672324 0.9583 0.605259 0.7162 0.9691 Uncertain 17_54517855_T->C 17 54517855 54517855 T C snp 607.77 1/1 45 17 0 17 1.0 intronic rs7224536 ANKFN1 AU NM_153228 exon8 c.286915+70T>C 0.855831 0.9732 Uncertain 17_54526301_C->T 17 54526301 54526301 C T snp 934.77 0/1 99 58 22 36 0.62 intronic rs2024316 ANKFN1 AU NM_153228 exon10 c.295569-138C>T 0.54972 0.88 Uncertain 17_54534634_G->A 17 54534634 54534634 G A snp 1455.77 1/1 99 52 0 52 1.0 exonic rs10852985 ANKFN1 AU nonsynonymous SNV NM_153228 exon12 c.G1333A p.V445I 0.751597 0.9732 0.695970 0.7430 0.9734 0.01 T 0.012 P -1.039 T 0.659 T 0.076 P Pathogenic 17_54534678_T->C 17 54534678 54534678 T C snp 1035.77 0/1 99 78 34 44 0.56 exonic rs75599990 ANKFN1 AU synonymous SNV NM_153228 exon12 c.T1377C p.D459D 0.00459265 0.0089 0.0021 0.0094 Uncertain 17_54558283_TA->- 17 54558283 54558284 TA - indel 239.87 1/1 15 8 1 7 0.88 intronic rs68128704 ANKFN1 AU NM_153228 exon16 c.327309+104_327309+105delTA Uncertain 17_54559800_C->T 17 54559800 54559800 C T snp 1250.77 0/1 99 124 73 51 0.41 exonic rs146193202 ANKFN1 AU synonymous SNV NM_153228 exon17 c.C2184T p.D728D 0.00459265 0.0099 0.000077 0.0022 0.0097 Uncertain 17_54588211_T->C 17 54588211 54588211 T C snp 2941.77 0/1 99 248 130 118 0.48 intergenic rs2241935 ANKFN1 AU 0.104433 0.0774 0.0883 0.0758 Uncertain 17_54892126_A->G 17 54892126 54892126 A G snp 815.77 1/1 60 23 0 23 1.0 intronic rs4794668 C17orf67 AU NM_001085430 exon3 c.19805-103A>G 0.774561 0.8571 Uncertain 17_54893180_G->T 17 54893180 54893180 G T snp 1494.77 0/1 99 158 87 71 0.45 UTR5 rs180874207 C17orf67 AU 0.00239617 0.0099 0.0003 0.0038 0.93 T 1 N -0.994 T 0.0 T 0.0 T Uncertain 17_54893302_G->A 17 54893302 54893302 G A snp 283.77 0/1 99 23 13 10 0.43 UTR5 rs17220376 C17orf67 AU 0.0135783 0.0476 Uncertain 17_54912737_A->G 17 54912737 54912737 A G snp 1187.77 1/1 87 33 0 33 1.0 intronic rs7225724 DGKE AR NM_003647 exon2 c.464+117A>G 0.838858 0.9335 0.8681 0.9438 Uncertain 17_54921322_G->A 17 54921322 54921322 G A snp 578.77 1/1 45 18 0 18 1.0 intronic rs3760157 DGKE AR NM_003647 exon3 c.9223-57G>A 0.696086 0.9157 Uncertain 17_54921494_A->C 17 54921494 54921494 A C snp 1074.77 1/1 81 39 0 39 1.0 exonic rs3760158 DGKE AR synonymous SNV NM_003647 exon3 c.A579C p.T193T 0.698283 0.9157 0.696907 0.7223 0.9235 Uncertain 17_54925262_G->T 17 54925262 54925262 G T snp 815.77 1/1 60 25 0 25 1.0 intronic rs6503775 DGKE AR NM_003647 exon5 c.13126-20G>T 0.842452 0.9335 0.862448 0.8643 0.9412 Uncertain 17_54926338_C->T 17 54926338 54926338 C T snp 178.9 1/1 15 5 0 5 1.0 intronic rs2271898 DGKE AR NM_003647 exon6 c.14058+124C>T 0.726038 0.9157 Uncertain 17_54926825_G->A 17 54926825 54926825 G A snp 139.03 1/1 12 4 0 4 1.0 intronic rs12601782 DGKE AR NM_003647 exon7 c.14437+232G>A 0.69988 0.9157 Uncertain 17_54939715_T->C 17 54939715 54939715 T C snp 1865.77 1/1 99 50 0 50 1.0 intronic rs9911560 DGKE AR NM_003647 exon11 c.27456+103T>C 0.70028 0.9157 Uncertain 17_54939737_T->A 17 54939737 54939737 T A snp 1065.77 1/1 78 28 0 28 1.0 intronic rs3826295 DGKE AR NM_003647 exon11 c.27456+125T>A 0.70028 0.9157 Uncertain 17_54976337_A->G 17 54976337 54976337 A G snp 165.9 1/1 15 5 0 5 1.0 intronic rs2525995 TRIM25 AU NM_005082 exon5 c.7415-138A>G 0.796526 0.8125 Uncertain 17_54978794_G->A 17 54978794 54978794 G A snp 1591.77 1/1 99 59 0 59 1.0 exonic rs205498 TRIM25 AU nonsynonymous SNV NM_005082 exon4 c.C1073T p.P358L 0.774361 0.8095 0.762494 0.7485 0.8267 0.33 T 0.994 P -0.956 T 0.05 T 0.019 T Pathogenic 17_55019580_A->G 17 55019580 55019580 A G snp 478.77 1/1 36 14 0 14 1.0 intronic rs2240214 COIL AU NM_004645 exon2 c.3053+96A>G 0.16873 0.1875 Uncertain 17_55026912_A->G 17 55026912 55026912 A G snp 2329.77 1/1 99 81 0 81 1.0 intronic rs12942251 COIL AU NM_004645 exon4 c.10364+117A>G 0.604233 0.7748 Uncertain 17_55027850_T->C 17 55027850 55027850 T C snp 4076.77 1/1 99 154 0 154 1.0 exonic rs8071691 COIL AU synonymous SNV NM_004645 exon2 c.A753G p.E251E 0.923522 0.998 0.866677 0.8579 0.9994 Uncertain 17_55038062_T->C 17 55038062 55038062 T C snp 421.77 1/1 33 12 0 12 1.0 intronic rs9899845 COIL AU NM_004645 exon7 c.21704-73T>C 0.820887 0.9911 Uncertain 17_55055742_T->- 17 55055742 55055742 T - indel 470.7 1/1 6 48 4 44 0.92 intronic rs398031155 SCPEP1 AU NM_021626 exon1 c.76+146delT 0.54992 0.7212 Uncertain 17_55058689_G->C 17 55058689 55058689 G C snp 434.77 1/1 33 12 0 12 1.0 intronic rs3095499 SCPEP1 AU NM_021626 exon2 c.3071+98G>C 0.823482 0.9911 Uncertain 17_55065530_A->G 17 55065530 55065530 A G snp 1630.77 1/1 99 58 0 58 1.0 intronic rs12453004 SCPEP1 AU NM_021626 exon5 c.10056-46A>G 0.541534 0.7669 0.482547 0.5634 0.8051 Uncertain 17_55065558_-->A 17 55065558 55065558 - A indel 2866.73 1/1 99 73 0 73 1.0 intronic rs11437466 SCPEP1 AU NM_021626 exon5 c.10056-18insA 0.827077 0.7778 0.825879 0.8499 0.8169 Uncertain 17_55075582_A->G 17 55075582 55075582 A G snp 378.77 1/1 33 14 1 13 0.93 intronic rs1811258 SCPEP1 AU NM_021626 exon10 c.20225-163A>G 0.466653 0.2966 Uncertain 17_55075928_C->T 17 55075928 55075928 C T snp 1790.77 1/1 99 61 0 61 1.0 intronic rs12941709 SCPEP1 AU NM_021626 exon10 c.20339+69C>T 0.458067 0.2976 Uncertain 17_55123748_C->T 17 55123748 55123748 C T snp 2519.77 0/1 99 187 86 101 0.54 ncRNA_exonic rs3213728 RNF126P1 AU 0.3123 0.5923 Uncertain 17_55123867_-->GACT 17 55123867 55123867 - GACT indel 2532.73 0/1 99 83 38 45 0.54 ncRNA_exonic rs3217120 RNF126P1 AU 0.323083 0.5873 Uncertain 17_55182812_T->- 17 55182812 55182812 T - indel 2084.73 1/1 99 50 0 50 1.0 UTR5 rs3833091 AKAP1 AU 0.450879 0.8046 0.363339 0.4418 0.8136 Uncertain 17_55183203_T->C 17 55183203 55183203 T C snp 6212.77 1/1 99 224 0 224 1.0 exonic rs2230772 AKAP1 AU synonymous SNV NM_003488 exon2 c.T378C p.D126D 0.478235 0.8046 0.391358 0.4491 0.8132 Uncertain 17_55183716_T->C 17 55183716 55183716 T C snp 1813.77 1/1 99 62 0 62 1.0 exonic rs1050515 AKAP1 AU synonymous SNV NM_003488 exon2 c.T891C p.D297D 0.590655 0.8115 0.540827 0.5579 0.8195 Uncertain 17_55184680_T->G 17 55184680 55184680 T G snp 139.03 1/1 12 4 0 4 1.0 intronic rs2241073 AKAP1 AU NM_003488 exon2 c.1714+141T>G 0.589657 0.8115 Uncertain 17_55189723_T->G 17 55189723 55189723 T G snp 1473.77 1/1 99 39 0 39 1.0 intronic rs3094444 AKAP1 AU NM_003488 exon5 c.7026-128T>G 0.997204 1 Uncertain 17_55195559_C->T 17 55195559 55195559 C T snp 391.77 1/1 30 11 0 11 1.0 intronic rs2301702 AKAP1 AU NM_003488 exon9 c.12916-182C>T 0.221246 0.3869 Uncertain 17_55197914_G->C 17 55197914 55197914 G C snp 554.77 1/1 42 14 0 14 1.0 UTR3 rs3095505 AKAP1 AU 0.866813 0.998 Uncertain 17_55335439_C->T 17 55335439 55335439 C T snp 56.74 1/1 6 2 0 2 1.0 intronic rs77438988 MSI2 AU NM_170721 exon3 c.1222-191C>T 0.096246 0.2242 Uncertain 17_55363421_G->C 17 55363421 55363421 G C snp 748.77 0/1 99 67 30 37 0.55 intronic rs11079286 MSI2 AU NM_170721 exon4 c.5145+23868G>C 0.790535 0.874 0.7811 0.8898 Uncertain 17_55363455_TTTC->- 17 55363455 55363458 TTTC - indel 818.73 0/1 99 43 19 24 0.56 intronic MSI2 AU NM_170721 exon4 c.5145+23902_5145+23905delTTTC Uncertain 17_55704465_A->G 17 55704465 55704465 A G snp 1685.77 1/1 99 63 0 63 1.0 intronic rs1861474 MSI2 AU NM_170721 exon9 c.370181-124A>G 0.906749 0.8948 Uncertain 17_55917353_C->G 17 55917353 55917353 C G snp 2176.77 1/1 99 76 0 76 1.0 intronic rs2099914 MRPS23 AU NM_016070 exon1 c.153+57C>G 0.650559 0.8075 Uncertain 17_55950888_G->A 17 55950888 55950888 G A snp 687.77 0/1 99 71 43 28 0.39 intronic rs2304945 CUEDC1 AU NM_001271875 exon8 c.7114-63G>A 0.00958466 0.0456 Uncertain 17_55962465_T->C 17 55962465 55962465 T C snp 417.77 1/1 33 11 0 11 1.0 intronic rs2586051 CUEDC1 AU NM_001271875 exon10 c.18752-124T>C 0.732628 0.9931 Uncertain 17_56056604_-->TGC 17 56056604 56056604 - TGC indel 1429.73 0/1 99 79 39 40 0.51 exonic rs780474852 VEZF1 AU nonframeshift insertion NM_007146 exon5 c.1046_1047insGCA p.Q349delinsQQ ID=COSM1479777;OCCURENCE=1(liver),5(breast) Likely pathogenic 17_56083934_G->A 17 56083934 56083934 G A snp 1081.77 1/1 78 36 0 36 1.0 intronic rs2233911 SRSF1 AU NM_001078166 exon2 c.781+46G>A 0.546725 0.7748 0.509337 0.6530 0.7579 Uncertain 17_56232460_TTTG->- 17 56232460 56232463 TTTG - indel 2486.73 0/1 99 80 35 45 0.56 upstream rs145787234 OR4D1 AU 0.362021 0.1468 Uncertain 17_56233034_C->A 17 56233034 56233034 C A snp 3704.77 0/1 99 250 97 153 0.61 exonic rs7218964 OR4D1 AU nonsynonymous SNV NM_012374 exon1 c.C520A p.L174I 0.265375 0.1478 0.262187 0.2146 0.1669 1 T 0.247 P -1.097 T 0.329 T 0.536 T Pathogenic 17_56233499_C->T 17 56233499 56233499 C T snp 513.77 0/1 99 36 17 19 0.53 upstream;downstream rs3863502 MSX2P1;OR4D1 UN 0.23762 0.1478 0.164240 0.2111 0.1697 Uncertain 17_56235104_C->A 17 56235104 56235104 C A snp 1292.77 0/1 99 117 63 54 0.46 ncRNA_exonic rs3863503 MSX2P1 AU 0.427516 0.7351 Uncertain 17_56235322_G->A 17 56235322 56235322 G A snp 520.77 1/1 39 14 0 14 1.0 ncRNA_exonic rs1987665 MSX2P1 AU 0.784944 0.8819 Uncertain 17_56270121_T->C 17 56270121 56270121 T C snp 108.77 0/1 99 11 7 4 0.36 UTR5 rs12602891 EPX AR 0.373203 0.2976 Uncertain 17_56272390_A->G 17 56272390 56272390 A G snp 2371.77 0/1 99 246 139 107 0.43 exonic rs2240815 EPX AR synonymous SNV NM_000502 exon6 c.A660G p.R220R 0.501398 0.244 0.555513 0.4639 0.2401 Uncertain 17_56274781_-->G 17 56274781 56274781 - G indel 193.73 0/1 99 22 15 7 0.32 intronic rs34415223 EPX AR NM_000502 exon7 c.4411+163insG 0.336062 0.2202 Uncertain 17_56282763_C->T 17 56282763 56282763 C T snp 260.77 0/1 99 12 4 8 0.67 downstream rs2302312 EPX AR 0.0856629 0.1141 Uncertain 17_56283026_G->A 17 56283026 56283026 G A snp 954.77 0/1 99 72 33 39 0.54 UTR3 rs2302313 MKS1 AR 0.086262 0.1171 0.1028 0.1074 Uncertain 17_56283365_G->A 17 56283365 56283365 G A snp 38.77 0/1 67 5 3 2 0.4 UTR3 rs35184412 MKS1 AR 0.086262 0.1171 Uncertain 17_56287892_G->A 17 56287892 56287892 G A snp 761.77 0/1 99 55 28 27 0.49 intronic rs72839966 MKS1 AR NM_001165927 exon8 c.4580-127G>A 0.086262 0.1151 Uncertain 17_56289545_T->C 17 56289545 56289545 T C snp 417.77 0/1 99 29 12 17 0.59 intronic rs3213698 MKS1 AR NM_001165927 exon10 c.6299-193T>C 0.480032 0.2183 Uncertain 17_56289718_GCA->- 17 56289718 56289720 GCA - indel 2696.73 0/1 99 125 67 58 0.46 intronic rs3217067 MKS1 AR NM_001165927 exon10 c.6299-20_6299-18delGCA 0.0860623 0.1151 0.081527 0.0940 0.1030 Uncertain 17_56290334_T->C 17 56290334 56290334 T C snp 598.77 0/1 99 57 30 27 0.47 intronic rs3826300 MKS1 AR NM_001165927 exon11 c.6903-8T>C 0.480831 0.2212 0.555804 0.4466 0.2050 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000114214.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 17_56290556_A->G 17 56290556 56290556 A G snp 370.77 0/1 99 19 5 14 0.74 intronic rs3744105 MKS1 AR NM_001165927 exon11 c.7012+105A>G 0.480631 0.2212 Uncertain 17_56296236_C->G 17 56296236 56296236 C G snp 141.03 1/1 12 4 0 4 1.0 intronic rs12051662 MKS1 AR NM_001165927 exon17 c.12651+146C>G 0.115016 0.1141 Uncertain 17_56321452_ACACACACACAC->- 17 56321452 56321463 ACACACACACAC - indel 1962.73 0/1 99 72 11 61 0.85 intronic rs778835717 LPO AU NM_006151 exon3 c.1102+10_1102+21delACACACACACAC 0.0597 0.0937 Uncertain 17_56327999_A->G 17 56327999 56327999 A G snp 373.77 0/1 99 32 16 16 0.5 intronic rs7208924 LPO AU NM_006151 exon7 c.7642+17A>G 0.348842 0.2381 0.382900 0.3465 0.2352 Uncertain 17_56332327_G->A 17 56332327 56332327 G A snp 1099.77 0/1 99 104 54 50 0.48 exonic rs2301870 LPO AU nonsynonymous SNV NM_001160102 exon7 c.G1012A p.V338M 0.161342 0.1151 0.165693 0.1371 0.1020 0.83 T 0.0 P -1.098 T 0.642 T 0.223 P Pathogenic 17_56344656_A->G 17 56344656 56344656 A G snp 1194.77 0/1 99 73 26 47 0.64 intronic rs8178407 LPO AU NM_006151 exon12 c.24369-53A>G 0.469449 0.244 Uncertain 17_56384928_C->T 17 56384928 56384928 C T snp 337.77 0/1 99 46 31 15 0.33 intronic rs36057095 BZRAP1 AU NM_004758 exon9 c.3241-43C>T 0.284744 0.252 0.316441 0.3160 0.2484 Uncertain 17_56388416_C->T 17 56388416 56388416 C T snp 615.77 0/1 99 62 35 27 0.44 exonic rs3744098 BZRAP1 AU synonymous SNV NM_004758 exon19 c.G3240A p.P1080P 0.0071885 0.001 0.019623 0.0235 0.0031 Uncertain 17_56435885_G->T 17 56435885 56435885 G T snp 4807.77 1/1 99 168 1 167 0.99 exonic rs2526374 RNF43 AU nonsynonymous SNV NM_017763 exon9 c.C1252A p.L418M 0.399561 0.4494 0.373751 0.3972 0.4664 0.08 T 0.0 P -0.917 T 0.99 D 0.836 D ID=COSM4130449;OCCURENCE=1(thyroid) Pathogenic 17_56492800_T->C 17 56492800 56492800 T C snp 7184.77 1/1 99 250 0 250 1.0 exonic rs3744093 RNF43 AU nonsynonymous SNV NM_017763 exon2 c.A139G p.I47V 0.373802 0.5258 0.328310 0.4048 0.5249 0.49 T 0.007 P -0.954 T 0.002 T 0.003 T Pathogenic 17_56536034_T->A 17 56536034 56536034 T A snp 371.77 0/1 99 49 33 16 0.33 intronic HSF5 AU NM_001080439 exon2 c.36408-94T>A Uncertain 17_56536035_G->T 17 56536035 56536035 G T snp 371.77 0/1 99 50 34 16 0.32 intronic HSF5 AU NM_001080439 exon2 c.36408-93G>T Uncertain 17_56544280_T->G 17 56544280 56544280 T G snp 5844.77 1/1 99 231 0 231 1.0 exonic rs1017089 HSF5 AU nonsynonymous SNV NM_001080439 exon3 c.A986C p.N329T 1 1 0.999769 0.9998 1 1 T 0.000 P -0.933 T 0.0 T 0.0 T Pathogenic 17_56569842_-->GA 17 56569842 56569842 - GA indel 8643.73 1/1 99 170 0 170 1.0 intronic rs5821234 MTMR4 AU NM_004687 exon2 c.848-29insGA 0.91234 1 0.841613 0.8467 0.9995 Uncertain 17_56580997_T->C 17 56580997 56580997 T C snp 1031.77 1/1 75 36 0 36 1.0 intronic rs1860262 MTMR4 AU NM_004687 exon5 c.12081-107T>C 0.91274 1 Uncertain 17_56581651_C->G 17 56581651 56581651 C G snp 4935.77 1/1 99 166 1 165 0.99 intronic rs4277402 MTMR4 AU NM_004687 exon7 c.12640-12C>G 0.910942 1 0.838459 0.8461 0.9994 Uncertain 17_56583098_A->G 17 56583098 56583098 A G snp 57.74 1/1 6 3 0 3 1.0 intronic rs4793591 MTMR4 AU NM_004687 exon9 c.13921+154A>G 0.414936 0.5188 Uncertain 17_56584205_A->C 17 56584205 56584205 A C snp 2922.77 1/1 99 115 0 115 1.0 exonic rs2302189 MTMR4 AU nonsynonymous SNV NM_004687 exon10 c.T890G p.V297G 0.397165 0.5298 0.343226 0.4180 0.5386 0.28 T 1.000 P -1.043 T 0.891 T 0.628 P Pathogenic 17_56585314_A->T 17 56585314 56585314 A T snp 224.84 1/1 18 6 0 6 1.0 intronic rs72628393 MTMR4 AU NM_004687 exon12 c.16498-207A>T 0.39996 0.5198 Uncertain 17_56585872_G->C 17 56585872 56585872 G C snp 4592.77 1/1 99 157 0 157 1.0 exonic rs3744108 MTMR4 AU nonsynonymous SNV NM_004687 exon7 c.C508G p.L170V 0.394968 0.5188 0.343688 0.4093 0.5204 0.21 T 0.999 P -0.971 T 0.25 T 0.1 T Pathogenic 17_56594197_C->T 17 56594197 56594197 C T snp 162.9 1/1 15 5 0 5 1.0 intronic rs3744109 MTMR4 AU NM_004687 exon18 c.24956+218C>T 0.39357 0.5198 Uncertain 17_56598214_A->- 17 56598214 56598214 A - indel 1965.73 1/1 99 53 0 53 1.0 ncRNA_intronic rs10719315 SEPT4-AS1 AU 0.402756 0.5198 0.359744 0.4118 0.5208 Uncertain 17_56598439_T->C 17 56598439 56598439 T C snp 3087.77 1/1 99 102 0 102 1.0 exonic rs1057068 SEPT4 AU synonymous SNV NM_001198713 exon10 c.A1173G p.T391T 0.400759 0.5188 0.354836 0.4131 0.5211 Uncertain 17_56603935_AC->- 17 56603935 56603936 AC - indel 179.73 0/1 99 24 12 12 0.5 ncRNA_intronic SEPT4-AS1 AU Uncertain 17_56603978_G->A 17 56603978 56603978 G A snp 877.77 1/1 69 33 0 33 1.0 ncRNA_intronic rs2079703 SEPT4-AS1 AU 0.393171 0.5198 Uncertain 17_56609525_G->A 17 56609525 56609525 G A snp 56.74 1/1 6 2 0 2 1.0 ncRNA_intronic rs11869828 SEPT4-AS1 AU 0.392772 0.5188 Uncertain 17_56621286_G->T 17 56621286 56621286 G T snp 5307.77 1/1 99 170 0 170 1.0 exonic rs8071623 C17orf47 AU nonsynonymous SNV NM_001038704 exon1 c.C262A p.P88T 0.896366 1 0.823927 0.8410 0.9997 1 T 0.0 P -0.989 T 0.0 T 0.0 T Pathogenic 17_56621359_T->C 17 56621359 56621359 T C snp 6804.77 1/1 99 247 0 247 1.0 exonic rs6503867 C17orf47 AU synonymous SNV NM_001038704 exon1 c.A189G p.S63S 0.910343 0.999 0.838382 0.8450 0.9995 Uncertain 17_56636854_T->C 17 56636854 56636854 T C snp 4365.77 1/1 99 171 0 171 1.0 exonic rs7225128 TEX14 AU synonymous SNV NM_031272 exon30 c.A4227G p.E1409E 0.896965 1 0.824235 0.8413 0.9997 Uncertain 17_56654690_T->C 17 56654690 56654690 T C snp 1642.77 1/1 99 67 0 67 1.0 intronic rs1267542 TEX14 AU NM_031272 exon12 c.20364-45T>C 0.392372 0.5188 0.345970 0.4236 0.5281 Uncertain 17_57076893_T->A 17 57076893 57076893 T A snp 253.8 1/1 21 8 0 8 1.0 intronic rs4598970 TRIM37 AR NM_015294 exon1 c.83+73T>A 0.358027 0.5456 Uncertain 17_57089588_-->CAGCAGCAGCAGCAGCAC 17 57089588 57089588 - CAGCAGCAGCAGCAGCAC indel 3422.74 1/1 25 22 1 21 0.95 intronic rs3217009 TRIM37 AR NM_015294 exon3 c.12951-100insCAGCAGCAGCAGCAGCAC Uncertain 17_57094617_T->C 17 57094617 57094617 T C snp 1795.77 1/1 99 58 0 58 1.0 intronic rs4932691 TRIM37 AR NM_015294 exon5 c.17919-39T>C 0.705072 0.7153 0.679917 0.6519 0.7047 Uncertain 17_57140034_ATCCCAAG->- 17 57140034 57140041 ATCCCAAG - indel 7378.73 0/1 99 183 96 87 0.48 intronic rs533635114 TRIM37 AR NM_015294 exon14 c.63272+25_63272+32delATCCCAAG 0.00199681 0.0089 0.0010 0.0128 Uncertain 17_57344328_C->T 17 57344328 57344328 C T snp 1236.77 0/1 99 79 37 42 0.53 intronic rs534709890 GDPD1 AU NM_182569 exon7 c.46431-73C>T 0.000399361 0.002 Uncertain 17_57642847_G->- 17 57642847 57642847 G - indel 612.73 0/1 99 41 20 21 0.51 upstream rs10713316 DHX40 AU 0.509984 0.5446 Uncertain 17_57663597_A->- 17 57663597 57663597 A - indel 366.73 0/1 99 72 14 58 0.81 splicing rs58298344 DHX40 AU NM_001166301 exon10 c.20562+3delA 0.507188 0.5268 0.4721 0.4797 Pathogenic 17_57683041_-->A 17 57683041 57683041 - A indel 1474.73 0/1 99 114 62 52 0.46 splicing rs150025878 DHX40 AU NM_001166301 exon16 c.40003+6insA 0.217851 0.4851 0.067822 0.1732 0.5059 Pathogenic 17_57717737_C->G 17 57717737 57717737 C G snp 1280.77 1/1 93 47 1 46 0.98 intronic rs9910530 CLTC AU NM_001288653 exon2 c.24144-3899C>G 0.802716 0.9425 Uncertain 17_57719366_T->G 17 57719366 57719366 T G snp 562.77 0/1 99 62 34 28 0.45 intronic rs9899439 CLTC AU NM_001288653 exon2 c.24144-2270T>G Uncertain 17_57719367_T->G 17 57719367 57719367 T G snp 141.77 0/1 99 63 51 12 0.19 intronic CLTC AU NM_001288653 exon2 c.24144-2269T>G Uncertain 17_57725043_T->G 17 57725043 57725043 T G snp 3041.77 1/1 99 108 0 108 1.0 intronic rs8071749 CLTC AU NM_001288653 exon3 c.27535+16T>G 0.895367 0.9425 0.862217 0.8708 0.9309 Uncertain 17_57725481_G->A 17 57725481 57725481 G A snp 224.84 1/1 18 6 0 6 1.0 intronic rs2136694 CLTC AU NM_001288653 exon4 c.28108-119G>A 0.802716 0.9425 Uncertain 17_57733479_T->A 17 57733479 57733479 T A snp 1032.77 1/1 75 33 0 33 1.0 intronic rs4349212 CLTC AU NM_001288653 exon6 c.35896+91T>A 0.894569 0.9425 Uncertain 17_57743691_G->A 17 57743691 57743691 G A snp 3200.06 1/1 99 100 0 100 1.0 intronic rs9893154 CLTC AU NM_001288653 exon11 c.46109+90G>A 0.854433 0.9425 Uncertain 17_57744412_G->A 17 57744412 57744412 G A snp 431.77 1/1 33 13 0 13 1.0 intronic rs7221815 CLTC AU NM_001288653 exon13 c.46846+74G>A 0.854233 0.9425 Uncertain 17_57746107_A->G 17 57746107 57746107 A G snp 462.77 0/1 99 42 22 20 0.48 intronic rs2272411 CLTC AU NM_001288653 exon14 c.48645-30A>G 0.30611 0.4792 0.164206 0.2035 0.4698 Uncertain 17_57750982_T->C 17 57750982 57750982 T C snp 1184.77 1/1 84 49 0 49 1.0 intronic rs8065248 CLTC AU NM_001288653 exon15 c.53515-25T>C 0.919728 0.9504 0.888179 0.8802 0.9343 Uncertain 17_57754591_A->G 17 57754591 57754591 A G snp 455.77 0/1 99 37 17 20 0.54 intronic rs28465103 CLTC AU NM_001288653 exon17 c.57057+42A>G 0.307308 0.4812 0.164231 0.2075 0.4879 Uncertain 17_57761385_AT->- 17 57761385 57761386 AT - indel 589.73 0/1 99 35 18 17 0.49 intronic rs3215190 CLTC AU NM_001288653 exon28 c.63854+39_63854+40delAT 0.22524 0.4792 0.085737 0.1999 0.5006 Uncertain 17_57762871_T->C 17 57762871 57762871 T C snp 152.77 0/1 99 10 5 5 0.5 intronic rs2271303 CLTC AU NM_001288653 exon30 c.65455-76T>C 0.307708 0.4812 Uncertain 17_57776475_T->C 17 57776475 57776475 T C snp 99.28 1/1 9 3 0 3 1.0 intronic rs4968335 PTRH2 AR NM_016077 exon1 c.540+1136T>C 0.802316 0.9435 Uncertain 17_57886125_T->G 17 57886125 57886125 T G snp 303.77 0/1 99 29 15 14 0.48 intronic rs2645487 VMP1 AU NM_030938 exon8 c.77349-31T>G 0.32528 0.4563 0.247232 0.2659 0.4632 Uncertain 17_57889192_T->G 17 57889192 57889192 T G snp 1869.77 0/1 99 132 62 70 0.53 intronic rs2063353 VMP1 AU NM_030938 exon9 c.80340+45T>G 0.358027 0.3829 0.407350 0.4868 0.3841 Uncertain 17_57951973_G->A 17 57951973 57951973 G A snp 159.77 0/1 99 29 21 8 0.28 exonic rs2250526 TUBD1 AU synonymous SNV NM_001193613 exon3 c.C213T p.Y71Y 0.232228 0.4107 0.183684 0.2069 0.4051 Uncertain 17_57958124_C->T 17 57958124 57958124 C T snp 37.77 0/1 66 6 4 2 0.33 intronic rs1292057 TUBD1 AU NM_016261 exon6 c.20572-130C>T 0.233626 0.4157 Uncertain 17_57963537_A->G 17 57963537 57963537 A G snp 1422.77 0/1 99 131 65 66 0.5 exonic rs1292053 TUBD1 AU nonsynonymous SNV NM_001193609 exon3 c.T227C p.M76T 0.48123 0.5754 0.451638 0.4462 0.5814 0.65 T 0.000 P -0.926 T 0.0 T 0.0 T Pathogenic 17_58011498_G->T 17 58011498 58011498 G T snp 2709.77 0/1 99 224 109 115 0.51 intronic rs180524 RPS6KB1 AU NM_001272044 exon9 c.23590-32G>T 0.583466 0.5764 0.563923 0.4781 0.5813 Uncertain 17_58012768_-->A 17 58012768 58012768 - A indel 215.73 0/1 99 23 8 15 0.65 intronic rs11459613 RPS6KB1 AU NM_001272044 exon11 c.24721+107insA 0.583067 0.5764 Uncertain 17_58014014_A->T 17 58014014 58014014 A T snp 61.77 0/1 90 8 4 4 0.5 intronic rs568198178 RPS6KB1 AU NM_001272044 exon13 c.25962+112A>T 0.000199681 0.001 Uncertain 17_58024224_-->AA 17 58024224 58024224 - AA indel 1799.73 0/1 99 88 46 42 0.48 UTR3 rs76853887 RPS6KB1 AU 0.339457 0.4633 Uncertain 17_58024275_A->G 17 58024275 58024275 A G snp 449.77 0/1 99 42 26 16 0.38 UTR3 rs180515 RPS6KB1 AU 0.339257 0.4633 Uncertain 17_58024324_A->G 17 58024324 58024324 A G snp 117.78 0/1 27 5 1 4 0.8 UTR3 rs1051424 RPS6KB1 AU 0.180112 0.4137 Uncertain 17_58030552_T->- 17 58030552 58030552 T - indel 370.73 0/1 99 63 16 47 0.75 intronic rs34068842 RNFT1 AU NM_016125 exon1 c.135+80delT 0.553315 0.5595 Uncertain 17_58031412_A->G 17 58031412 58031412 A G snp 180.9 1/1 15 5 0 5 1.0 exonic rs11368 RNFT1 AU synonymous SNV NM_016125 exon8 c.T1167C p.I389I 0.579273 0.5764 0.551992 0.4785 0.5819 Uncertain 17_58037374_T->C 17 58037374 58037374 T C snp 556.77 0/1 99 45 24 21 0.47 intronic rs12600680 RNFT1 AU NM_016125 exon6 c.7091-54T>C 0.203874 0.4137 Uncertain 17_58037690_T->A 17 58037690 58037690 T A snp 93.28 1/1 9 3 0 3 1.0 intronic rs8075105 RNFT1 AU NM_016125 exon6 c.7192+161T>A 0.89357 0.9504 Uncertain 17_58040730_T->C 17 58040730 58040730 T C snp 500.77 0/1 99 30 9 21 0.7 intronic rs4968401 RNFT1 AU NM_016125 exon8 c.10308+85T>C 0.421126 0.4256 Uncertain 17_58042126_T->C 17 58042126 58042126 T C snp 557.77 0/1 99 40 17 23 0.57 upstream rs76419616 LOC101927755 AU 0.232029 0.4127 Uncertain 17_58149745_G->A 17 58149745 58149745 G A snp 2853.77 1/1 99 108 0 108 1.0 intronic rs3744375 HEATR6 AU NM_022070 exon16 c.28767+55G>A 0.454273 0.5337 Uncertain 17_58180062_T->C 17 58180062 58180062 T C snp 6363.77 1/1 99 241 0 241 1.0 ncRNA_exonic rs8075626 LOC653653 AU 0.628594 0.5506 0.5363 0.1602 Uncertain 17_58180079_C->G 17 58180079 58180079 C G snp 6144.77 1/1 99 231 0 231 1.0 ncRNA_exonic rs8074512 LOC653653 AU 0.628794 0.5526 0.7134 0.4 Uncertain 17_58180172_T->C 17 58180172 58180172 T C snp 1557.77 1/1 99 45 0 45 1.0 ncRNA_exonic rs8075789 LOC653653 AU 0.628195 0.5506 0.7882 0.5147 Uncertain 17_58236563_G->T 17 58236563 58236563 G T snp 1691.77 0/1 99 174 96 78 0.45 intronic rs146362767 CA4 AD NM_000717 exon8 c.9195-27G>T 0.00239617 0.0119 0.000154 0.0017 0.0313 Uncertain 17_58288658_G->A 17 58288658 58288658 G A snp 121.77 0/1 99 112 73 39 0.35 intronic rs2668977 USP32 AU NM_032582 exon15 c.32121-78G>A Uncertain 17_58529179_T->A 17 58529179 58529179 T A snp 124.77 0/1 99 10 4 6 0.6 intronic rs148076552 APPBP2 AU NM_001282476 exon2 c.4299-61T>A 0.000998403 0.005 Uncertain 17_58761590_T->C 17 58761590 58761590 T C snp 148.77 0/1 99 10 5 5 0.5 intronic rs75323917 BCAS3 AU NM_001099432 exon3 c.4579+193T>C 0.0145767 0.0258 Uncertain 17_58786625_A->G 17 58786625 58786625 A G snp 2588.77 0/1 99 223 112 111 0.5 exonic rs2643103 BCAS3 AU nonsynonymous SNV NM_001099432 exon5 c.A260G p.N87S 0.748802 0.8958 0.805847 0.9258 0.9122 0.86 T 1.0 P -0.906 T 0.206 T 0.054 T Pathogenic 17_58824567_T->C 17 58824567 58824567 T C snp 2538.77 1/1 99 98 0 98 1.0 exonic rs7501675 BCAS3 AU synonymous SNV NM_001099432 exon6 c.T330C p.G110G 0.993411 1 0.994195 0.9980 1 Uncertain 17_58969056_T->C 17 58969056 58969056 T C snp 806.77 0/1 99 79 45 34 0.43 intronic rs9303430 BCAS3 AU NM_001099432 exon10 c.210314+1924T>C 0.308107 0.12 0.0892 0.1136 Uncertain 17_58969070_A->G 17 58969070 58969070 A G snp 794.77 0/1 99 84 51 33 0.39 intronic rs78676245 BCAS3 AU NM_001099432 exon10 c.210314+1938A>G 0.0557109 0.1022 0.0206 0.0833 0.01 T 0.0 P -1.026 T Uncertain 17_59104073_A->G 17 59104073 59104073 A G snp 37.77 0/1 66 7 4 3 0.43 intronic rs117271624 BCAS3 AU NM_001099432 exon17 c.347408-153A>G 0.0117812 0.0149 Uncertain 17_59161646_A->G 17 59161646 59161646 A G snp 225.77 0/1 55 9 2 7 0.78 intronic rs2052074 BCAS3 AU NM_001099432 exon23 c.405009-181A>G 0.365815 0.1617 Uncertain 17_59477903_C->A 17 59477903 59477903 C A snp 748.77 0/1 99 83 49 34 0.41 exonic rs75743672 TBX2 AU synonymous SNV NM_005994 exon1 c.C366A p.G122G 0.14976 0.2847 0.069388 0.1587 0.3672 Uncertain 17_59480291_T->G 17 59480291 59480291 T G snp 391.77 1/1 30 11 0 11 1.0 intronic rs12937792 TBX2 AU NM_005994 exon3 c.2884-130T>G 0.741414 0.7143 Uncertain 17_59480312_AGAGAGAGAGAGAGAGAGAGA->- 17 59480312 59480332 AGAGAGAGAGAGAGAGAGAGA - indel 2304.73 0/1 99 29 15 14 0.48 intronic rs202026270 TBX2 AU NM_005994 exon3 c.2884-109_2884-89delAGAGAGAGAGAGAGAGAGAGA Uncertain 17_59480332_-->G 17 59480332 59480332 - G indel 1744.73 1/1 99 52 0 52 1.0 intronic rs11445838 TBX2 AU NM_005994 exon3 c.2884-89insG Uncertain 17_59482166_C->- 17 59482166 59482166 C - indel 1032.73 0/1 99 70 34 36 0.51 intronic rs66504335 TBX2 AU NM_005994 exon5 c.4593+36delC 0.410942 0.3542 0.589631 0.6162 0.3917 Uncertain 17_59482169_C->G 17 59482169 59482169 C G snp 809.77 0/1 99 69 36 33 0.48 intronic rs35619711 TBX2 AU NM_005994 exon5 c.4593+39C>G 0.428714 0.3651 0.6214 0.4530 Uncertain 17_59482173_G->A 17 59482173 59482173 G A snp 808.77 0/1 99 76 42 34 0.45 intronic rs9891115 TBX2 AU NM_005994 exon5 c.4593+43G>A 0.428714 0.3651 0.030803 0.6170 0.4406 Uncertain 17_59482300_G->C 17 59482300 59482300 G C snp 2890.77 0/1 99 233 111 122 0.52 intronic rs8080990 TBX2 AU NM_005994 exon5 c.4593+170G>C 0.151757 0.2847 0.1036 0.2905 Uncertain 17_59485393_C->T 17 59485393 59485393 C T snp 3014.77 0/1 99 250 121 129 0.52 intronic rs2240736 TBX2 AU NM_005994 exon7 c.7877-21C>T 0.56849 0.4177 0.704290 0.6489 0.4239 Uncertain 17_59485555_C->T 17 59485555 59485555 C T snp 2924.77 0/1 99 224 104 120 0.54 exonic rs1057987 TBX2 AU synonymous SNV NM_005994 exon7 c.C1827T p.S609S 0.424321 0.369 0.576840 0.6044 0.3638 Uncertain 17_59489893_T->C 17 59489893 59489893 T C snp 5524.77 1/1 99 195 0 195 1.0 exonic rs9907379 C17orf82 AU nonsynonymous SNV NM_203425 exon1 c.T557C p.L186P 0.723442 0.7004 0.796812 0.7674 0.7363 0.17 T 0.024 P -1.026 T 0.0 T 0.0 T Pathogenic 17_59533868_G->C 17 59533868 59533868 G C snp 2178.77 1/1 99 83 0 83 1.0 exonic rs3744448 TBX4 AD nonsynonymous SNV NM_018488 exon1 c.G17C p.G6A 0.180112 0.3016 0.118403 0.2344 0.3992 0.300 P -1.103 T 0.349 T 0.147 T Pathogenic 17_59534987_T->G 17 59534987 59534987 T G snp 4674.77 1/1 99 171 1 170 0.99 exonic rs3744447 TBX4 AD synonymous SNV NM_018488 exon2 c.T276G p.A92A 0.202676 0.3353 0.146471 0.1876 0.3331 Uncertain 17_59543090_T->C 17 59543090 59543090 T C snp 776.77 1/1 57 21 0 21 1.0 intronic rs35279830 TBX4 AD NM_018488 exon3 c.9328-89T>C 0.17492 0.2331 Uncertain 17_59544716_C->T 17 59544716 59544716 C T snp 172.9 1/1 15 5 0 5 1.0 intronic rs1009962 TBX4 AD NM_018488 exon4 c.11019-154C>T 0.146166 0.1964 Uncertain 17_59544775_C->T 17 59544775 59544775 C T snp 1789.77 1/1 99 58 0 58 1.0 intronic rs1009961 TBX4 AD NM_018488 exon4 c.11019-95C>T 0.146166 0.1964 Uncertain 17_59544810_G->A 17 59544810 59544810 G A snp 2837.77 1/1 99 104 0 104 1.0 intronic rs3744442 TBX4 AD NM_018488 exon4 c.11019-60G>A 0.119209 0.1964 Uncertain 17_59760996_A->G 17 59760996 59760996 A G snp 1530.77 0/1 99 127 68 59 0.46 exonic rs4986763 BRIP1 AU,AD synonymous SNV NM_032043 exon20 c.T3411C p.Y1137Y 0.620807 0.754 0.606044 0.5941 0.7230 CLINSIG=non-pathogenic;CLNDBN=Hereditary_cancer-predisposing_syndrome;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000162378.1;CLNDSDB=MedGen:SNOMED_CT;CLNDSDBID=C0027672:699346009 Uncertain 17_59763114_A->T 17 59763114 59763114 A T snp 70.77 0/1 99 16 11 5 0.31 intronic rs4988357 BRIP1 AU,AD NM_032043 exon2 c.2540-82A>T 0.343051 0.5089 0.3937 0.5686 Uncertain 17_59763347_A->G 17 59763347 59763347 A G snp 1639.77 0/1 99 140 70 70 0.5 exonic rs4986764 BRIP1 AU,AD nonsynonymous SNV NM_032043 exon19 c.T2755C p.S919P 0.627796 0.755 0.613409 0.5972 0.7235 0.0 P -0.937 T 0.0 T 0.0 T CLINSIG=untested|non-pathogenic;CLNDBN=not_specified|Hereditary_cancer-predisposing_syndrome;CLNREVSTAT=no_assertion_provided|criteria_provided\x2c_single_submitter;CLNACC=RCV000120400.1|RCV000132148.2;CLNDSDB=MedGen|MedGen:SNOMED_CT;CLNDSDBID=CN169374|C0027672:699346009 ID=CM046104;DIS=Breast cancer, association with;TAG=DP;PUB=15113441 DP Pathogenic 17_59763465_T->C 17 59763465 59763465 T C snp 2470.77 0/1 99 250 145 105 0.42 exonic rs4986765 BRIP1 AU,AD synonymous SNV NM_032043 exon19 c.A2637G p.E879E 0.815096 0.9127 0.734276 0.7188 0.8933 CLINSIG=non-pathogenic;CLNDBN=Hereditary_cancer-predisposing_syndrome;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000162379.1;CLNDSDB=MedGen:SNOMED_CT;CLNDSDBID=C0027672:699346009 Uncertain 17_59857809_C->G 17 59857809 59857809 C G snp 422.77 1/1 33 14 0 14 1.0 intronic rs4988351 BRIP1 AU,AD NM_032043 exon8 c.97106+47C>G 0.789736 0.8026 0.785879 0.7476 0.8267 Uncertain 17_59876352_C->T 17 59876352 59876352 C T snp 71.77 0/1 99 7 4 3 0.43 intronic rs2191248 BRIP1 AU,AD NM_032043 exon12 c.115804-108C>T 0.1873 0.1121 Uncertain 17_59878522_-->A 17 59878522 59878522 - A indel 117.87 1/1 15 5 0 5 1.0 intronic rs11390869 BRIP1 AU,AD NM_032043 exon13 c.117957-91insA Uncertain 17_59885813_A->T 17 59885813 59885813 A T snp 1092.77 0/1 99 97 45 52 0.54 intronic rs117820198 BRIP1 AU,AD NM_032043 exon14 c.125171-14A>T 0.00858626 0.0427 0.0029 0.0395 CLINSIG=non-pathogenic;CLNDBN=Hereditary_cancer-predisposing_syndrome;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000124033.2;CLNDSDB=MedGen:SNOMED_CT;CLNDSDBID=C0027672:699346009 Uncertain 17_59924612_G->C 17 59924612 59924612 G C snp 650.77 0/1 99 74 44 30 0.41 intronic rs4988344 BRIP1 AU,AD NM_032043 exon15 c.163925+31G>C 0.215655 0.5625 0.129248 0.1899 0.5547 Uncertain 17_59955426_T->G 17 59955426 59955426 T G snp 5581.77 1/1 99 190 0 190 1.0 exonic rs606072 INTS2 AU nonsynonymous SNV NM_020748 exon18 c.A2302C p.N768H 0.997005 1 0.992951 0.9984 1 0.000 P -1.011 T 0.0 T 0.0 T Pathogenic 17_59958635_G->T 17 59958635 59958635 G T snp 1432.77 0/1 99 139 74 65 0.47 intronic rs73332565 INTS2 AU NM_020748 exon9 c.13615+103G>T 0.243411 0.5526 Uncertain 17_59989126_A->C 17 59989126 59989126 A C snp 1288.77 0/1 99 77 34 43 0.56 intronic rs3744434 INTS2 AU NM_020748 exon19 c.44137+72A>C 0.230431 0.5635 Uncertain 17_60032650_A->T 17 60032650 60032650 A T snp 302.78 1/1 24 9 0 9 1.0 intronic rs4968463 MED13 AU NM_005121 exon5 c.8914-92A>T 0.216853 0.5258 Uncertain 17_60040329_C->T 17 60040329 60040329 C T snp 2616.77 1/1 99 93 0 93 1.0 exonic rs2278812 MED13 AU synonymous SNV NM_005121 exon21 c.G4848A p.T1616T 0.284944 0.5248 0.184454 0.1854 0.5155 Uncertain 17_60043884_G->A 17 60043884 60043884 G A snp 6986.77 1/1 99 249 0 249 1.0 exonic rs671347 MED13 AU synonymous SNV NM_005121 exon19 c.C4320T p.D1440D 0.996206 1 0.993147 0.9983 1 Uncertain 17_60043929_T->C 17 60043929 60043929 T C snp 7049.77 1/1 99 244 0 244 1.0 exonic rs76432344 MED13 AU synonymous SNV NM_005121 exon19 c.A4275G p.K1425K 0.119409 0.5 0.003843 0.0507 0.4802 Uncertain 17_60070111_-->T 17 60070111 60070111 - T indel 299.75 1/1 24 8 0 8 1.0 intronic rs11375626 MED13 AU NM_005121 exon20 c.46154+129insT 1 1 Uncertain 17_60070140_-->T 17 60070140 60070140 - T indel 116.87 1/1 15 5 0 5 1.0 intronic rs11375627 MED13 AU NM_005121 exon20 c.46154+158insT 0.999401 1 Uncertain 17_60111468_A->C 17 60111468 60111468 A C snp 54.74 1/1 6 2 0 2 1.0 intronic rs7218724 MED13 AU NM_005121 exon26 c.87517+123A>C 0.217252 0.5258 Uncertain 17_60129875_C->T 17 60129875 60129875 C T snp 1820.77 1/1 99 57 0 57 1.0 intronic rs4968467 MED13 AU NM_005121 exon28 c.106069-22C>T 0.217252 0.5248 0.133095 0.1980 0.5189 Uncertain 17_60215386_T->C 17 60215386 60215386 T C snp 651.77 0/1 99 59 28 31 0.53 intergenic rs3803868 MED13 AU 0.134784 0.2044 Uncertain 17_60215748_T->C 17 60215748 60215748 T C snp 230.84 1/1 18 9 0 9 1.0 intergenic rs11079465 MED13 AU 0.907348 0.9504 Uncertain 17_60215768_G->A 17 60215768 60215768 G A snp 152.77 0/1 99 11 5 6 0.55 intergenic rs59589773 MED13 AU 0.340256 0.6071 Uncertain 17_60217236_A->G 17 60217236 60217236 A G snp 917.77 1/1 66 32 0 32 1.0 intergenic rs56068498 MED13 AU 0.833666 0.9484 Uncertain 17_60217757_A->G 17 60217757 60217757 A G snp 96.28 1/1 9 3 0 3 1.0 intergenic rs7221377 MED13 AU 0.91893 0.9484 Uncertain 17_60318733_C->A 17 60318733 60318733 C A snp 74.77 0/1 99 7 4 3 0.43 intergenic rs62069062 MED13 AU 0.449081 0.4474 Uncertain 17_60318736_A->G 17 60318736 60318736 A G snp 77.77 0/1 99 7 4 3 0.43 intergenic rs62069063 MED13 AU 0.449081 0.4474 Uncertain 17_60324448_C->T 17 60324448 60324448 C T snp 956.77 0/1 99 59 21 38 0.64 intergenic rs12325728 MED13 AU 0.295927 0.5506 Uncertain 17_60324593_C->T 17 60324593 60324593 C T snp 347.77 0/1 99 22 10 12 0.55 intergenic rs11079467 MED13 AU 0.483427 0.5556 Uncertain 17_60351336_C->T 17 60351336 60351336 C T snp 76.77 0/1 99 7 3 4 0.57 ncRNA_intronic rs117392685 TBC1D3P2 AU 0.111621 0.124 Uncertain 17_60360238_A->G 17 60360238 60360238 A G snp 2593.77 0/1 99 240 104 136 0.57 intergenic rs10163525 TBC1D3P2 AU 0.788139 0.8185 0.8554 0.7764 Uncertain 17_60360261_T->C 17 60360261 60360261 T C snp 2340.77 0/1 99 204 91 113 0.55 intergenic rs62069132 TBC1D3P2 AU 0.785543 0.8185 0.8544 0.7758 Uncertain 17_60360410_A->C 17 60360410 60360410 A C snp 115.77 0/1 66 6 2 4 0.67 intergenic rs3968037 TBC1D3P2 AU 0.442292 0.6438 Uncertain 17_60363906_G->T 17 60363906 60363906 G T snp 215.77 0/1 83 35 21 14 0.4 intergenic rs202158824 TBC1D3P2 AU 0.812101 0.8185 Uncertain 17_60363941_G->C 17 60363941 60363941 G C snp 492.77 0/1 99 83 53 30 0.36 intergenic rs148555715 TBC1D3P2 AU 0.811901 0.8175 Uncertain 17_60364233_A->T 17 60364233 60364233 A T snp 1034.77 0/1 99 72 34 38 0.53 intergenic rs4968513 TBC1D3P2 AU 0.311302 0.6458 Uncertain 17_60365992_C->G 17 60365992 60365992 C G snp 1740.77 1/1 99 74 1 73 0.99 intergenic rs2668978 TBC1D3P2 AU 0.988019 1 Uncertain 17_60366741_C->G 17 60366741 60366741 C G snp 357.77 0/1 99 39 25 14 0.36 intergenic rs2668983 TBC1D3P2 AU 0.787939 0.8204 Uncertain 17_60366788_T->- 17 60366788 60366788 T - indel 113.73 0/1 99 31 14 17 0.55 intergenic rs200284807 TBC1D3P2 AU 0.523962 0.6905 Uncertain 17_60366800_T->A 17 60366800 60366800 T A snp 214.77 0/1 99 24 14 10 0.42 intergenic rs11658000 TBC1D3P2 AU 0.354433 0.6528 Uncertain 17_60464688_C->T 17 60464688 60464688 C T snp 1712.77 1/1 99 64 0 64 1.0 intronic rs9909704 EFCAB3 AU NM_173503 exon3 c.4360-12C>T 0.925319 1 0.924035 0.9790 1 Uncertain 17_60472623_C->T 17 60472623 60472623 C T snp 688.77 0/1 99 97 66 31 0.32 intronic rs11079476 EFCAB3 AU NM_173503 exon6 c.12209+74C>T 0.604633 0.4335 Uncertain 17_60491298_G->T 17 60491298 60491298 G T snp 461.77 0/1 99 19 4 15 0.79 intronic rs9913294 EFCAB3 AU NM_173503 exon9 c.30875+83G>T 0.226238 0.1815 Uncertain 17_60501409_A->G 17 60501409 60501409 A G snp 657.77 0/1 99 55 28 27 0.49 intronic rs11543000 METTL2A AU NM_181725 exon1 c.110+36A>G 0.354034 0.5446 0.175646 0.2010 0.5545 Uncertain 17_60503892_A->G 17 60503892 60503892 A G snp 3546.77 1/1 99 139 1 138 0.99 exonic rs2543409 METTL2A AU synonymous SNV NM_181725 exon3 c.A435G p.S145S 0.932708 0.999 0.9783 0.9996 Uncertain 17_60503921_T->C 17 60503921 60503921 T C snp 2295.77 1/1 99 89 0 89 1.0 exonic rs2319055 METTL2A AU nonsynonymous SNV NM_181725 exon3 c.T464C p.L155P 0.921326 1 0.8218 0.9984 0.27 T 0.0 P -0.959 T 0.0 T 0.001 T Pathogenic 17_60512432_G->A 17 60512432 60512432 G A snp 47.77 0/1 76 44 30 14 0.32 intronic METTL2A AU NM_181725 exon5 c.11329-160G>A Uncertain 17_60512662_A->G 17 60512662 60512662 A G snp 414.77 0/1 99 165 121 44 0.27 intronic rs768335986 METTL2A AU NM_181725 exon5 c.11390+9A>G 8.249e-06 0 Uncertain 17_60525047_C->T 17 60525047 60525047 C T snp 2070.77 0/1 99 184 97 87 0.47 intronic rs3750154 METTL2A AU NM_181725 exon8 c.23798-14C>T 0.189896 0.4226 0.080040 0.0783 0.4224 Uncertain 17_60598038_A->- 17 60598038 60598038 A - indel 41.15 0/1 10 9 2 7 0.78 intronic rs748022122 TLK2 AU NM_001284333 exon3 c.39647-95delA Uncertain 17_60599797_G->A 17 60599797 60599797 G A snp 169.9 1/1 15 5 0 5 1.0 intronic rs2111809 TLK2 AU NM_001284333 exon4 c.41148+163G>A 0.957268 1 Uncertain 17_60613812_A->T 17 60613812 60613812 A T snp 49.77 0/1 33 5 2 3 0.6 intronic rs3764388 TLK2 AU NM_001284333 exon7 c.55212+114A>T 0.117612 0.4167 Uncertain 17_60657334_C->T 17 60657334 60657334 C T snp 776.77 0/1 99 77 43 34 0.44 intronic rs12451705 TLK2 AU NM_001284333 exon16 c.98985-137C>T 0.399361 0.6984 Uncertain 17_60683503_A->G 17 60683503 60683503 A G snp 733.77 0/1 99 67 37 30 0.45 exonic rs8078132 TLK2 AU synonymous SNV NM_006852 exon20 c.A1872G p.P624P 0.526358 0.8135 0.489697 0.5926 0.8291 Uncertain 17_60742348_G->T 17 60742348 60742348 G T snp 657.77 0/1 99 63 35 28 0.44 intronic rs2252814 MRC2 AU NM_006039 exon2 c.37147+38G>T 0.433506 0.5883 0.467435 0.5457 0.5775 Uncertain 17_60748926_C->T 17 60748926 60748926 C T snp 152.77 0/1 99 27 20 7 0.26 intronic rs729647 MRC2 AU NM_006039 exon7 c.43846-83C>T 0.434904 0.5833 Uncertain 17_60753904_A->C 17 60753904 60753904 A C snp 3304.77 0/1 99 239 107 132 0.55 intronic rs4968617 MRC2 AU NM_006039 exon11 c.48729+12A>C 0.481829 0.5794 0.396048 0.4111 0.6115 Uncertain 17_60757983_G->C 17 60757983 60757983 G C snp 44.74 1/1 6 2 0 2 1.0 intronic rs2109080 MRC2 AU NM_006039 exon16 c.52651+169G>C 0.609625 0.7877 Uncertain 17_60758273_G->C 17 60758273 60758273 G C snp 6138.77 1/1 99 235 0 235 1.0 exonic rs2245463 MRC2 AU synonymous SNV NM_006039 exon17 c.G2586C p.S862S 0.847444 0.9286 0.891435 0.9382 0.9194 Uncertain 17_60759340_A->G 17 60759340 60759340 A G snp 2341.77 1/1 99 85 0 85 1.0 intronic rs2429389 MRC2 AU NM_006039 exon19 c.54135+42A>G 0.823882 0.9425 0.863755 0.9337 0.9376 Uncertain 17_60759347_A->G 17 60759347 60759347 A G snp 2395.77 1/1 99 86 0 86 1.0 intronic rs2460300 MRC2 AU NM_006039 exon19 c.54135+49A>G 0.821685 0.9415 0.860889 0.9327 0.9365 Uncertain 17_60759952_A->C 17 60759952 60759952 A C snp 96.28 1/1 9 3 0 3 1.0 intronic rs2465454 MRC2 AU NM_006039 exon20 c.54575+214A>C 0.814497 0.9415 Uncertain 17_60766224_A->G 17 60766224 60766224 A G snp 2000.77 1/1 99 72 0 72 1.0 exonic rs2465430 MRC2 AU synonymous SNV NM_006039 exon23 c.A3237G p.A1079A 0.877796 0.9375 0.920575 0.9507 0.9357 0.82 T 0.0 P -1.014 T 0.0 T 0.0 T Likely benign 17_60766483_A->G 17 60766483 60766483 A G snp 860.77 1/1 63 26 0 26 1.0 intronic rs2465429 MRC2 AU NM_006039 exon23 c.61158+162A>G 0.813898 0.9415 Uncertain 17_60767015_G->A 17 60767015 60767015 G A snp 3643.77 1/1 99 141 0 141 1.0 exonic rs2429387 MRC2 AU nonsynonymous SNV NM_006039 exon24 c.G3467A p.R1156H 0.798722 0.9435 0.837846 0.9291 0.9387 0.58 T 1.000 P -0.998 T 0.005 T 0.004 T Pathogenic 17_60767151_C->T 17 60767151 60767151 C T snp 3123.77 1/1 99 109 0 109 1.0 intronic rs740698 MRC2 AU NM_006039 exon24 c.61958+30C>T 0.4998 0.6647 0.531077 0.6155 0.7122 Uncertain 17_60767461_C->G 17 60767461 60767461 C G snp 2159.77 1/1 99 76 0 76 1.0 intronic rs2465426 MRC2 AU NM_006039 exon25 c.62260+38C>G 0.801717 0.9435 0.844101 0.9285 0.9375 Uncertain 17_60767954_C->- 17 60767954 60767954 C - indel 5736.73 1/1 99 175 0 175 1.0 intronic rs11357719 MRC2 AU NM_006039 exon27 c.62839-48delC 0.852636 0.9435 0.890398 0.9426 0.9376 Uncertain 17_60768243_A->G 17 60768243 60768243 A G snp 2813.77 1/1 99 86 0 86 1.0 intronic rs2465425 MRC2 AU NM_006039 exon28 c.63146-66A>G 0.978235 0.9663 Uncertain 17_60778932_G->A 17 60778932 60778932 G A snp 1113.77 1/1 81 38 0 38 1.0 UTR3 rs2251393 MARCH10 AU 0.813099 0.8978 0.8494 0.9067 Uncertain 17_60779025_A->G 17 60779025 60779025 A G snp 1945.77 1/1 99 72 0 72 1.0 UTR3 rs2251391 MARCH10 AU 0.955072 0.9018 0.976011 0.9703 0.8999 Uncertain 17_60814181_T->C 17 60814181 60814181 T C snp 1759.77 0/1 99 166 89 77 0.46 exonic rs538070926 MARCH10 AU nonsynonymous SNV NM_001100875 exon6 c.A1048G p.S350G 0.000199681 8.26e-05 0.0009 0.18 T 1 N -1.043 T 0.001 T 0.002 T Pathogenic 17_60837034_G->A 17 60837034 60837034 G A snp 168.9 1/1 15 5 0 5 1.0 ncRNA_intronic rs7221784 MIR548W AU 0.531949 0.7302 Uncertain 17_61315272_G->A 17 61315272 61315272 G A snp 2761.77 0/1 99 227 97 130 0.57 exonic rs2460111 TANC2 AU synonymous SNV NM_025185 exon6 c.G645A p.Q215Q 0.534545 0.1667 0.619164 0.5969 0.3145 Uncertain 17_61432774_A->G 17 61432774 61432774 A G snp 246.77 0/1 99 24 14 10 0.42 intronic rs4968765 TANC2 AU NM_025185 exon12 c.345831+23A>G 0.528554 0.1587 0.613514 0.5292 0.1746 Uncertain 17_61457217_G->C 17 61457217 61457217 G C snp 2926.77 0/1 99 233 104 129 0.55 intronic rs8065950 TANC2 AU NM_025185 exon13 c.370267+30G>C 0.52516 0.1587 0.605355 0.4937 0.1484 Uncertain 17_61473325_C->A 17 61473325 61473325 C A snp 1666.77 0/1 99 133 59 74 0.56 intronic rs2270133 TANC2 AU NM_025185 exon16 c.386369+36C>A 0.52496 0.1587 0.609724 0.5652 0.2257 Uncertain 17_61548918_C->T 17 61548918 61548918 C T snp 2825.77 1/1 99 108 0 108 1.0 intergenic rs4277405 CYB561 AU 0.645367 0.6508 Uncertain 17_61548948_C->A 17 61548948 61548948 C A snp 3233.06 1/1 99 118 0 118 1.0 intergenic rs4459609 CYB561 AU 0.646765 0.6498 Uncertain 17_61549171_T->A 17 61549171 61549171 T A snp 383.77 0/1 99 32 20 12 0.38 intergenic CYB561 AU Uncertain 17_61556178_T->C 17 61556178 61556178 T C snp 38.77 0/1 67 5 3 2 0.4 intronic ACE AR,AU NM_000789 exon3 c.1912-189T>C Uncertain 17_61556298_C->G 17 61556298 61556298 C G snp 3566.77 1/1 99 121 1 120 0.99 intronic rs4295 ACE AR,AU NM_000789 exon3 c.1912-69C>G 0.633387 0.6538 Uncertain 17_61556527_A->G 17 61556527 61556527 A G snp 1627.77 1/1 99 47 0 47 1.0 intronic rs4296 ACE AR,AU NM_000789 exon3 c.2006+66A>G 0.994609 0.9772 Uncertain 17_61559923_C->T 17 61559923 61559923 C T snp 5054.77 1/1 99 184 0 184 1.0 exonic rs4309 ACE AR,AU synonymous SNV NM_000789 exon8 c.C1215T p.P405P 0.423522 0.6468 0.335691 0.4492 0.6439 Uncertain 17_61560763_T->C 17 61560763 61560763 T C snp 3558.77 1/1 99 125 0 125 1.0 intronic rs4311 ACE AR,AU NM_000789 exon10 c.6365-57T>C 0.665735 0.6736 Uncertain 17_61562309_C->T 17 61562309 61562309 C T snp 3187.75 1/1 99 114 0 114 1.0 intronic rs4316 ACE AR,AU NM_001178057 exon1 c.199-118C>T 0.519169 0.6746 0.426747 0.5435 0.6773 Uncertain 17_61562490_-->G 17 61562490 61562490 - G indel 943.73 1/1 75 27 0 27 1.0 intronic rs397693855 ACE AR,AU NM_001178057 exon1 c.199+63insG 0.527556 0.6746 0.5153 0.6639 Uncertain 17_61562553_G->A 17 61562553 61562553 G A snp 1408.77 1/1 99 39 0 39 1.0 intronic rs4320 ACE AR,AU NM_001178057 exon2 c.368-43G>A 0.52516 0.6746 0.437567 0.4986 0.6625 Uncertain 17_61562774_T->C 17 61562774 61562774 T C snp 6503.77 1/1 99 235 0 235 1.0 intronic rs4321 ACE AR,AU NM_001178057 exon2 c.505+41T>C 0.529752 0.6756 0.444026 0.5098 0.6733 Uncertain 17_61564052_A->G 17 61564052 61564052 A G snp 6978.77 1/1 99 249 0 249 1.0 exonic rs4331 ACE AR,AU synonymous SNV NM_000789 exon14 c.A2193G p.A731A 0.529553 0.6736 0.443257 0.4999 0.6608 Uncertain 17_61564281_T->C 17 61564281 61564281 T C snp 3463.77 1/1 99 125 1 124 0.99 intronic rs4332 ACE AR,AU NM_001178057 exon4 c.2118-65T>C 0.529752 0.6746 Uncertain 17_61564522_T->C 17 61564522 61564522 T C snp 1755.77 1/1 99 52 0 52 1.0 intronic rs4333 ACE AR,AU NM_001178057 exon4 c.2206+88T>C 0.542931 0.6756 Uncertain 17_61565990_G->C 17 61565990 61565990 G C snp 4576.77 1/1 99 165 0 165 1.0 intronic rs4341 ACE AR,AU NM_001178057 exon5 c.3780-18G>C 0.529952 0.6746 0.439489 0.4997 0.6595 Uncertain 17_61565998_A->C 17 61565998 61565998 A C snp 4695.77 1/1 99 175 0 175 1.0 intronic rs4342 ACE AR,AU NM_001178057 exon5 c.3780-10A>C 0.529952 0.6746 0.416193 0.4996 0.6591 Uncertain 17_61566031_G->A 17 61566031 61566031 G A snp 5996.77 1/1 99 224 0 224 1.0 exonic rs4343 ACE AR,AU synonymous SNV NM_000789 exon16 c.G2328A p.T776T 0.643171 0.6796 0.560126 0.5373 0.6620 Uncertain 17_61573761_T->C 17 61573761 61573761 T C snp 6569.77 1/1 99 249 0 249 1.0 exonic rs4362 ACE AR,AU synonymous SNV NM_000789 exon23 c.T3387C p.F1129F 0.58746 0.6081 0.505305 0.5233 0.6056 Uncertain 17_61574492_G->A 17 61574492 61574492 G A snp 810.77 1/1 60 28 0 28 1.0 splicing rs4363 ACE AR,AU NM_001178057 exon13 c.12269-5G>A 0.581869 0.6071 0.491760 0.5562 0.6303 Pathogenic 17_61600717_A->G 17 61600717 61600717 A G snp 601.77 0/1 99 45 19 26 0.58 UTR5 rs71376915 KCNH6 AU 0.491813 0.255 0.609868 Uncertain 17_61607708_T->C 17 61607708 61607708 T C snp 2712.77 0/1 99 238 126 112 0.47 exonic rs7221517 KCNH6 AU synonymous SNV NM_030779 exon4 c.T480C p.H160H 0.28734 0.2252 0.336845 0.3173 0.2144 Uncertain 17_61611423_T->C 17 61611423 61611423 T C snp 2497.77 0/1 99 229 123 106 0.46 exonic rs7225568 KCNH6 AU synonymous SNV NM_030779 exon5 c.T852C p.D284D 0.447484 0.2599 0.573274 0.5174 0.2596 Uncertain 17_61615371_T->G 17 61615371 61615371 T G snp 1164.77 0/1 99 106 60 46 0.43 intronic rs4465659 KCNH6 AU NM_173092 exon8 c.14651-54T>G 0.54373 0.3403 Uncertain 17_61621000_T->C 17 61621000 61621000 T C snp 2047.77 0/1 99 185 95 90 0.49 exonic KCNH6 AU nonsynonymous SNV NM_030779 exon10 c.T2212C p.F738L 0.7 T 0.924 N 0.509 D 0.0 T 0.002 T Pathogenic 17_61621805_T->G 17 61621805 61621805 T G snp 1416.77 0/1 99 107 47 60 0.56 intronic rs8070334 KCNH6 AU NM_173092 exon12 c.20998+33T>G 0.558906 0.3413 0.665126 0.5838 0.3834 Uncertain 17_61622703_A->G 17 61622703 61622703 A G snp 1410.77 1/1 99 45 0 45 1.0 intronic rs12603614 KCNH6 AU NM_173092 exon13 c.21851+78A>G 0.276757 0.3254 Uncertain 17_61660890_G->- 17 61660890 61660890 G - indel 6056.73 1/1 99 172 0 172 1.0 splicing rs398031306 DCAF7 AU NM_005828 exon6 c.32852delG 1 1 0.999745 1.0000 1 Pathogenic 17_61710010_G->A 17 61710010 61710010 G A snp 541.77 0/1 99 61 38 23 0.38 intronic rs6504171 MAP3K3 AU NM_002401 exon2 c.9921-30G>A 0.337859 0.0496 0.422882 0.2769 0.0505 Uncertain 17_61729882_A->G 17 61729882 61729882 A G snp 814.77 0/1 99 66 34 32 0.48 intronic rs8080211 MAP3K3 AU NM_002401 exon4 c.29797-34A>G 0.15595 0.0496 0.234123 0.2340 0.0571 Uncertain 17_61735056_T->C 17 61735056 61735056 T C snp 158.77 0/1 99 9 3 6 0.67 intronic rs6504173 MAP3K3 AU NM_002401 exon5 c.35034-97T>C 0.33746 0.0496 Uncertain 17_61763031_G->C 17 61763031 61763031 G C snp 276.77 0/1 99 33 21 12 0.36 intronic rs11658329 MAP3K3 AU NM_002401 exon8 c.62831+81G>C 0.335863 0.0496 Uncertain 17_61766880_C->A 17 61766880 61766880 C A snp 906.77 0/1 99 119 77 42 0.35 intronic rs1877316 MAP3K3 AU NM_002401 exon11 c.66784-23C>A 0.230631 0.0496 0.302322 0.2807 0.0662 Uncertain 17_61769456_T->C 17 61769456 61769456 T C snp 175.77 0/1 99 13 6 7 0.54 intronic rs7211213 MAP3K3 AU NM_002401 exon15 c.69482-145T>C 0.322883 0.0685 Uncertain 17_61776479_T->C 17 61776479 61776479 T C snp 586.77 0/1 99 33 11 22 0.67 intronic rs1877317 LIMD2 AU NM_030576 exon3 c.518+50T>C 0.738219 0.5724 0.731434 0.6695 0.6100 Uncertain 17_61776538_G->C 17 61776538 61776538 G C snp 708.77 0/1 99 55 27 28 0.51 intronic rs3817181 LIMD2 AU NM_030576 exon4 c.705-78G>C 0.183307 0.0496 Uncertain 17_61781981_G->- 17 61781981 61781981 G - indel 577.86 0/1 2 36 3 33 0.92 intronic rs398031309 STRADA AU NM_001165969 exon3 c.558+39delG 0.807109 0.6319 0.5596 0.4182 Uncertain 17_61781983_G->T 17 61781983 61781983 G T snp 50.77 0/1 79 32 25 7 0.22 intronic rs77344145 STRADA AU NM_001165969 exon3 c.558+41G>T 0.0017 0.0005 Uncertain 17_61781984_G->T 17 61781984 61781984 G T snp 398.77 0/1 99 32 11 21 0.66 intronic rs372457035 STRADA AU NM_001165969 exon3 c.558+42G>T 0.807109 0.6319 0.2682 0.0585 Uncertain 17_61782325_T->C 17 61782325 61782325 T C snp 722.77 0/1 99 55 29 26 0.47 intronic rs9897229 STRADA AU NM_001165969 exon3 c.558+383T>C 0.734425 0.5585 Uncertain 17_61783908_A->G 17 61783908 61783908 A G snp 158.77 0/1 99 9 4 5 0.56 intronic rs3817182 STRADA AU NM_001165969 exon4 c.2610-86A>G 0.716853 0.5665 Uncertain 17_61784963_C->A 17 61784963 61784963 C A snp 80.77 0/1 69 5 2 3 0.6 intronic rs9912557 STRADA AU NM_001165969 exon5 c.3394+185C>A 0.732228 0.5585 Uncertain 17_61805607_G->A 17 61805607 61805607 G A snp 1306.77 0/1 99 111 52 59 0.53 intronic rs2137144 STRADA AU NM_001165969 exon10 c.24309-86G>A 0.710064 0.5585 Uncertain 17_61805747_G->A 17 61805747 61805747 G A snp 518.77 0/1 99 48 27 21 0.44 UTR5 rs4968597 STRADA AU 0.725839 0.5585 0.703291 0.6583 0.5875 Uncertain 17_61829157_-->TAGTGTT 17 61829157 61829157 - TAGTGTT indel 2486.73 0/1 99 58 30 28 0.48 intronic rs11283431 CCDC47 AU NM_020198 exon2 c.5059-142insTAGTGTT 0.69349 0.5565 Uncertain 17_61829989_C->T 17 61829989 61829989 C T snp 372.77 0/1 99 25 11 14 0.56 intronic rs3785572 CCDC47 AU NM_020198 exon4 c.5860-111C>T 0.726238 0.5565 Uncertain 17_61838259_G->A 17 61838259 61838259 G A snp 1109.77 0/1 99 101 49 52 0.51 intronic rs11654841 CCDC47 AU NM_020198 exon8 c.14033-14G>A 0.726438 0.5565 0.703598 0.6584 0.5860 Uncertain 17_61841236_G->A 17 61841236 61841236 G A snp 143.77 0/1 63 7 2 5 0.71 intronic rs67905415 CCDC47 AU NM_020198 exon10 c.17135-139G>A 0.726438 0.5565 Uncertain 17_61842408_A->T 17 61842408 61842408 A T snp 41.77 0/1 70 4 2 2 0.5 intronic rs6504184 CCDC47 AU NM_020198 exon11 c.17967+201A>T 0.732827 0.5565 Uncertain 17_61843130_G->A 17 61843130 61843130 G A snp 46.77 0/1 33 3 1 2 0.67 intronic rs58269663 CCDC47 AU NM_020198 exon12 c.19031-141G>A 0.732827 0.5565 Uncertain 17_61864403_T->A 17 61864403 61864403 T A snp 1146.77 0/1 99 114 64 50 0.44 UTR5 rs138078243 DDX42 AU 0.0139776 0.0238 0.000615 0.0088 0.0210 ID=COSN165496;OCCURENCE=1(NS) Uncertain 17_61884120_G->A 17 61884120 61884120 G A snp 179.77 0/1 99 14 7 7 0.5 intronic rs2251164 DDX42 AU NM_203499 exon8 c.19605+106G>A 0.726438 0.5546 Uncertain 17_61888693_T->A 17 61888693 61888693 T A snp 469.77 1/1 36 12 0 12 1.0 intronic rs2584629 DDX42 AU NM_203499 exon13 c.24124+160T>A 0.987021 1 Uncertain 17_61889213_-->A 17 61889213 61889213 - A indel 2659.73 0/1 99 168 84 84 0.5 intronic rs3217509 DDX42 AU NM_203499 exon14 c.24882-78insA 0.731829 0.5536 0.6598 0.5853 Uncertain 17_61897575_A->C 17 61897575 61897575 A C snp 39.77 0/1 68 56 40 16 0.29 intronic FTSJ3 AU NM_017647 exon3 c.453-39A>C 0.0717 0.0152 Uncertain 17_61898135_C->A 17 61898135 61898135 C A snp 350.77 0/1 99 51 32 19 0.37 intronic rs2665836 FTSJ3 AU NM_017647 exon4 c.1037-63C>A 0.732428 0.5556 Uncertain 17_61901197_T->A 17 61901197 61901197 T A snp 1762.77 0/1 99 130 53 77 0.59 exonic rs2727288 FTSJ3 AU nonsynonymous SNV NM_017647 exon13 c.A1270T p.S424C 0.726438 0.5556 0.703983 0.6580 0.5814 0.01 T 0.0 P -1.032 T 0.681 T 0.215 P Pathogenic 17_61901439_T->C 17 61901439 61901439 T C snp 1673.77 0/1 99 153 84 69 0.45 splicing rs2584627 FTSJ3 AU NM_017647 exon10 c.4282-4T>C 0.732428 0.5556 0.709596 0.6598 0.5817 Pathogenic 17_61901641_T->C 17 61901641 61901641 T C snp 1602.77 0/1 99 139 70 69 0.5 intronic rs894407 FTSJ3 AU NM_017647 exon10 c.4438+42T>C 0.726438 0.5556 0.703983 0.6581 0.5822 Uncertain 17_61901657_A->G 17 61901657 61901657 A G snp 1718.77 0/1 99 154 79 75 0.49 intronic rs894406 FTSJ3 AU NM_017647 exon11 c.4529-33A>G 0.726438 0.5556 0.703983 0.6581 0.5814 Uncertain 17_61901880_G->C 17 61901880 61901880 G C snp 530.77 0/1 99 46 26 20 0.43 intronic rs752621 FTSJ3 AU NM_017647 exon11 c.4610+109G>C 0.183107 0.0506 Uncertain 17_61902822_C->G 17 61902822 61902822 C G snp 3221.92 0/1 99 250 130 120 0.48 intronic rs716880 FTSJ3 AU NM_017647 exon15 c.5635+26C>G 0.726438 0.5556 0.703983 0.6584 0.5814 Uncertain 17_61903445_G->C 17 61903445 61903445 G C snp 716.77 0/1 99 52 28 24 0.46 exonic rs2584625 FTSJ3 AU nonsynonymous SNV NM_017647 exon5 c.C271G p.Q91E 0.732827 0.5556 0.709672 0.6597 0.5808 1 T 0.000 P -0.955 T 0.0 T 0.0 T Pathogenic 17_61904338_CCACTTCCAGTTTC->- 17 61904338 61904351 CCACTTCCAGTTTC - indel 2939.73 0/1 99 72 34 38 0.53 intronic rs141581810 FTSJ3 AU NM_017647 exon20 c.7127+50_7250-60delCCACTTCCAGTTTC 0.526757 0.4425 Uncertain 17_61904465_-->G 17 61904465 61904465 - G indel 289.73 0/1 99 12 4 8 0.67 UTR5 rs28362566 FTSJ3 AU Uncertain 17_61904724_T->C 17 61904724 61904724 T C snp 1409.77 0/1 99 93 37 56 0.6 UTR5 rs2665834 FTSJ3 AU 0.726438 0.5556 Uncertain 17_61904728_G->A 17 61904728 61904728 G A snp 1543.77 0/1 99 100 38 62 0.62 UTR5 rs2727287 FTSJ3 AU 0.724241 0.5556 Uncertain 17_61906846_T->C 17 61906846 61906846 T C snp 1038.77 0/1 99 101 55 46 0.46 intronic rs2665833 PSMC5 AU NM_002805 exon3 c.2003-7T>C 0.726837 0.5556 0.712680 0.6918 0.5735 Uncertain 17_61908056_T->- 17 61908056 61908056 T - indel 282.73 0/1 99 40 23 17 0.42 intronic rs553724685 PSMC5 AU NM_002805 exon7 c.3318-112delT 0.619209 0.5377 Uncertain 17_61908271_C->T 17 61908271 61908271 C T snp 1385.77 0/1 99 118 63 55 0.47 exonic rs968719 PSMC5 AU synonymous SNV NM_001199163 exon7 c.C631T p.L211L 0.732628 0.5556 0.709596 0.6598 0.5813 Uncertain 17_61908316_G->A 17 61908316 61908316 G A snp 1452.77 0/1 99 137 76 61 0.45 intronic rs7220892 PSMC5 AU NM_002805 exon7 c.3445+21G>A 0.239816 0.0506 0.312548 0.2481 0.0504 Uncertain 17_61912261_C->T 17 61912261 61912261 C T snp 373.77 0/1 99 26 11 15 0.58 intronic rs2665832 SMARCD2 AU NM_001098426 exon8 c.1863+101C>T 0.727236 0.5556 Uncertain 17_61950749_G->A 17 61950749 61950749 G A snp 68.77 0/1 97 48 39 9 0.19 intronic CSH2 AU NM_022644 exon3 c.811+50G>A Uncertain 17_61958556_A->G 17 61958556 61958556 A G snp 1927.77 0/1 99 119 56 63 0.53 intronic rs143223560 GH2 AU NM_002059 exon3 c.828+48A>G 0.0139776 0.0228 0.000769 0.0092 0.0220 ID=COSN165500;OCCURENCE=1(NS) Uncertain 17_61958669_G->T 17 61958669 61958669 G T snp 3228.29 0/1 99 250 130 120 0.48 intronic rs2006123 GH2 AU NM_022556 exon4 c.1038-49G>T 0.337061 0.0486 0.420757 0.2764 0.0481 Uncertain 17_61973645_G->A 17 61973645 61973645 G A snp 30.77 0/1 59 8 5 3 0.38 intronic CSH1 AU NM_001317 exon4 c.1214+50G>A Uncertain 17_61986027_A->G 17 61986027 61986027 A G snp 793.77 0/1 99 49 21 28 0.57 downstream rs2854152 CSHL1 AU 0.618411 0.504 Uncertain 17_61987405_A->T 17 61987405 61987405 A T snp 817.77 0/1 99 75 45 30 0.4 intronic rs2006122 CSHL1 AU NM_022580 exon2 c.451-116A>T 0.197085 0.0794 0.2296 0.0729 Uncertain 17_62006497_A->G 17 62006497 62006497 A G snp 55.77 0/1 84 14 11 3 0.21 UTR3 rs1051684 CD79B AR 0.561901 0.4891 Uncertain 17_62006997_T->C 17 62006997 62006997 T C snp 362.77 0/1 99 23 12 11 0.48 intronic rs9893518 CD79B AR NM_021602 exon3 c.544-132T>C 0.19988 0.0565 Uncertain 17_62007498_A->G 17 62007498 62007498 A G snp 2841.77 0/1 99 250 142 108 0.43 exonic rs2070776 CD79B AR synonymous SNV NM_000626 exon3 c.T366C p.C122C 0.561701 0.4881 0.659619 0.5952 0.4596 ID=COSM148316;OCCURENCE=1(stomach) Uncertain 17_62019103_G->T 17 62019103 62019103 G T snp 3253.77 0/1 99 250 131 119 0.48 exonic rs56342400 SCN4A AR,AD synonymous SNV NM_000334 exon24 c.C4539A p.I1513I 0.140176 0.1062 0.174535 0.1639 0.0975 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_multiple_submitters\x2c_no_conflicts;CLNACC=RCV000078661.4;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 17_62020348_T->C 17 62020348 62020348 T C snp 2850.77 0/1 99 250 127 123 0.49 exonic rs2058194 SCN4A AR,AD nonsynonymous SNV NM_000334 exon23 c.A4126G p.N1376D 0.561502 0.5377 0.599339 0.5237 0.5118 1 T 0.000 P -0.914 T 0.0 T 0.0 T CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_multiple_submitters\x2c_no_conflicts;CLNACC=RCV000118272.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 17_62022659_-->G 17 62022659 62022659 - G indel 2031.73 1/1 99 51 0 51 1.0 intronic rs397956644 SCN4A AR,AD NM_000334 exon6 c.4589-60insG 1 1 Uncertain 17_62025238_G->T 17 62025238 62025238 G T snp 480.77 0/1 99 45 24 21 0.47 intronic rs13341114 SCN4A AR,AD NM_000334 exon8 c.7119-11G>T 0.254393 0.4127 0.263655 0.3155 0.4130 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000153908.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 17_62041068_T->C 17 62041068 62041068 T C snp 1908.77 1/1 99 65 0 65 1.0 exonic rs6504191 SCN4A AR,AD nonsynonymous SNV NM_000334 exon10 c.A1570G p.S524G 0.944289 1 0.915375 0.9288 0.9994 0.46 T 0.000 P -0.934 T 0.0 T 0.0 T CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_multiple_submitters\x2c_no_conflicts;CLNACC=RCV000118264.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 17_62041317_G->T 17 62041317 62041317 G T snp 439.77 1/1 33 15 0 15 1.0 intronic rs2331408 SCN4A AR,AD NM_000334 exon15 c.23055+132G>T 0.775759 0.9732 Uncertain 17_62042078_T->C 17 62042078 62042078 T C snp 54.74 1/1 6 2 0 2 1.0 intronic rs2877373 SCN4A AR,AD NM_000334 exon16 c.23907+41T>C 0.808307 0.9742 0.801456 0.8843 0.9730 Uncertain 17_62043357_C->G 17 62043357 62043357 C G snp 330.78 1/1 27 9 0 9 1.0 intronic rs2009051 SCN4A AR,AD NM_000334 exon17 c.25331-104C>G 0.876797 1 Uncertain 17_62048467_A->G 17 62048467 62048467 A G snp 2677.77 1/1 99 99 0 99 1.0 intronic rs2302236 SCN4A AR,AD NM_000334 exon20 c.30391-54A>G 0.816094 0.7569 0.872755 Uncertain 17_62049235_A->G 17 62049235 62049235 A G snp 1857.77 1/1 99 69 0 69 1.0 intronic rs9892013 SCN4A AR,AD NM_000334 exon21 c.31080+25A>G 0.994808 1 0.989066 0.9878 0.9997 Uncertain 17_62075994_-->A 17 62075994 62075994 - A indel 660.73 0/1 99 36 18 18 0.5 ncRNA_exonic rs76735942 LOC400612 AU 0.734625 0.7688 Uncertain 17_62076053_G->A 17 62076053 62076053 G A snp 59.77 0/1 88 14 11 3 0.21 ncRNA_exonic rs558598382 LOC400612 AU 0.00179712 0.0069 0.0008 0 Uncertain 17_62076077_C->G 17 62076077 62076077 C G snp 487.77 0/1 99 24 6 18 0.75 exonic rs62070903 PRR29 AU nonsynonymous SNV NM_001164257 exon2 c.C71G p.T24S 0.253395 0.2351 0.3047 0.2917 0.55 T 1.000 P -1.006 T 0.987 D 0.841 D Pathogenic 17_62076164_A->C 17 62076164 62076164 A C snp 125.77 0/1 99 41 23 18 0.44 ncRNA_exonic rs762598715 LOC400612 AU 0.0002 0 Uncertain 17_62076169_A->C 17 62076169 62076169 A C snp 154.77 0/1 99 44 25 19 0.43 ncRNA_exonic rs751292114 LOC400612 AU 0.0002 0 Uncertain 17_62076509_G->T 17 62076509 62076509 G T snp 171.77 0/1 99 13 7 6 0.46 ncRNA_exonic rs3181027 LOC400612 AU 0.156749 0.3026 Uncertain 17_62080969_A->C 17 62080969 62080969 A C snp 4603.77 1/1 99 168 0 168 1.0 UTR3 rs4141180 PRR29 AU 0.950479 1 0.952945 0.9862 1 Uncertain 17_62083929_A->G 17 62083929 62083929 A G snp 4430.77 1/1 99 168 0 168 1.0 intronic rs6504194 ICAM2 AU NM_001099786 exon4 c.3884-61A>G 0.894968 1 0.906264 Uncertain 17_62121480_T->C 17 62121480 62121480 T C snp 2368.77 0/1 99 228 121 107 0.47 exonic rs196912 ERN1 AU synonymous SNV NM_001433 exon22 c.A2802G p.T934T 0.581869 0.6806 0.615770 0.6968 0.6550 Uncertain 17_62122145_A->G 17 62122145 62122145 A G snp 1075.77 1/1 78 37 0 37 1.0 intronic rs196915 ERN1 AU NM_001433 exon2 c.872-74A>G 0.937101 1 Uncertain 17_62122451_A->G 17 62122451 62122451 A G snp 52.74 1/1 6 2 0 2 1.0 intronic rs196916 ERN1 AU NM_001433 exon2 c.940+164A>G 0.945288 1 Uncertain 17_62122677_G->A 17 62122677 62122677 G A snp 1429.77 1/1 99 46 0 46 1.0 intronic rs196917 ERN1 AU NM_001433 exon3 c.1371-41G>A 0.909744 1 0.913996 0.9761 1 Uncertain 17_62123022_C->T 17 62123022 62123022 C T snp 163.9 1/1 15 6 0 6 1.0 intronic rs196918 ERN1 AU NM_001433 exon3 c.1495+180C>T 0.945887 1 Uncertain 17_62125272_A->G 17 62125272 62125272 A G snp 4253.77 1/1 99 163 0 163 1.0 exonic rs196923 ERN1 AU synonymous SNV NM_001433 exon19 c.T2475C p.H825H 0.951478 1 0.956347 0.9873 1 Uncertain 17_62125503_A->T 17 62125503 62125503 A T snp 129.03 1/1 12 5 0 5 1.0 intronic rs196924 ERN1 AU NM_001433 exon4 c.3998+158A>T 0.974441 1 Uncertain 17_62130389_-->CCT 17 62130389 62130389 - CCT indel 1222.73 1/1 69 33 0 33 1.0 intronic rs10689374 ERN1 AU NM_001433 exon6 c.8992+50insCCT 0.951677 1 0.953055 0.9833 1 Uncertain 17_62131445_A->G 17 62131445 62131445 A G snp 54.74 1/1 6 2 0 2 1.0 intronic rs169063 ERN1 AU NM_001433 exon8 c.10262-164A>G 0.94988 1 Uncertain 17_62132309_C->T 17 62132309 62132309 C T snp 728.77 1/1 54 26 0 26 1.0 intronic rs196931 ERN1 AU NM_001433 exon9 c.10841+121C>T 0.9373 1 Uncertain 17_62132330_G->A 17 62132330 62132330 G A snp 155.77 0/1 99 14 6 8 0.57 intronic rs4968607 ERN1 AU NM_001433 exon9 c.10841+142G>A 0.221845 0.3462 Uncertain 17_62141455_A->G 17 62141455 62141455 A G snp 2632.77 1/1 99 99 0 99 1.0 exonic rs187826 ERN1 AU synonymous SNV NM_001433 exon10 c.T978C p.I326I 0.952077 1 0.957278 0.9882 0.9999 Uncertain 17_62142339_T->C 17 62142339 62142339 T C snp 139.03 1/1 12 5 0 5 1.0 intronic rs196938 ERN1 AU NM_001433 exon14 c.21221-229T>C 0.97524 1 Uncertain 17_62144344_C->A 17 62144344 62144344 C A snp 1589.77 0/1 99 121 59 62 0.51 intronic rs16947425 ERN1 AU NM_001433 exon15 c.22945+52C>A 0.215655 0.3333 0.152945 Uncertain 17_62145672_A->G 17 62145672 62145672 A G snp 896.77 0/1 99 65 26 39 0.6 intronic rs196939 ERN1 AU NM_001433 exon16 c.24304+21A>G 0.547923 0.6617 0.593672 0.7110 0.6683 Uncertain 17_62145728_A->G 17 62145728 62145728 A G snp 575.77 0/1 99 43 20 23 0.53 intronic rs196940 ERN1 AU NM_001433 exon16 c.24304+77A>G 0.548522 0.6617 Uncertain 17_62156933_T->C 17 62156933 62156933 T C snp 488.77 1/1 36 16 0 16 1.0 intronic rs196947 ERN1 AU NM_001433 exon19 c.35674-88T>C 0.973642 0.999 Uncertain 17_62157307_T->C 17 62157307 62157307 T C snp 179.9 1/1 15 6 0 6 1.0 intronic rs196948 ERN1 AU NM_001433 exon19 c.35747+213T>C 0.597644 0.6776 Uncertain 17_62158012_T->C 17 62158012 62158012 T C snp 2478.77 1/1 99 84 0 84 1.0 intronic rs196950 ERN1 AU NM_001433 exon20 c.36787-122T>C 0.550319 0.6935 Uncertain 17_62158278_T->C 17 62158278 62158278 T C snp 1984.77 1/1 99 57 1 56 0.98 intronic rs196951 ERN1 AU NM_001433 exon20 c.36821+110T>C 0.552117 0.6935 Uncertain 17_62158300_C->T 17 62158300 62158300 C T snp 1268.77 1/1 93 34 0 34 1.0 intronic rs196952 ERN1 AU NM_001433 exon20 c.36821+132C>T 0.547324 0.6776 Uncertain 17_62158319_T->C 17 62158319 62158319 T C snp 819.77 1/1 63 21 0 21 1.0 intronic rs196953 ERN1 AU NM_001433 exon20 c.36821+151T>C 0.54972 0.6776 Uncertain 17_62232073_A->T 17 62232073 62232073 A T snp 1587.77 0/1 99 131 65 66 0.5 intronic rs4968693 TEX2 AU NM_018469 exon4 c.5873-128A>T 0.566094 0.7927 Uncertain 17_62254983_G->A 17 62254983 62254983 G A snp 354.78 1/1 27 10 0 10 1.0 intronic rs1967130 TEX2 AU NM_018469 exon7 c.28503+152G>A 1 1 Uncertain 17_62265839_C->- 17 62265839 62265839 C - indel 1126.73 0/1 99 77 39 38 0.49 intronic rs36104018 TEX2 AU NM_018469 exon8 c.39468+43delC 0.805112 0.8462 0.791967 0.8246 0.8544 Uncertain 17_62270743_C->G 17 62270743 62270743 C G snp 160.77 0/1 99 20 13 7 0.35 intronic rs4968702 TEX2 AU NM_018469 exon9 c.44590-175C>G 0.853435 0.8472 Uncertain 17_62270785_T->C 17 62270785 62270785 T C snp 753.77 0/1 99 67 39 28 0.42 intronic rs2166290 TEX2 AU NM_018469 exon9 c.44590-133T>C 0.804113 0.8462 Uncertain 17_62291496_A->G 17 62291496 62291496 A G snp 1336.77 0/1 99 95 43 52 0.55 exonic TEX2 AU nonsynonymous SNV NM_001288732 exon2 c.T82C p.S28P 0 D 1 D -0.562 T 1.0 D 0.998 D Pathogenic 17_62385609_-->AAACAAAC 17 62385609 62385609 - AAACAAAC indel 1057.73 0/1 99 41 28 13 0.32 intergenic TEX2 AU Uncertain 17_62386078_T->C 17 62386078 62386078 T C snp 591.77 0/1 99 45 17 28 0.62 intergenic TEX2 AU 0.752396 0.7907 0.7165 0.7997 Uncertain 17_62401118_T->C 17 62401118 62401118 T C snp 1215.77 0/1 99 109 58 51 0.47 UTR3 PECAM1 AU 0.548722 0.6865 0.466491 Uncertain 17_62406971_A->G 17 62406971 62406971 A G snp 1190.77 1/1 84 45 0 45 1.0 intronic PECAM1 AU NM_000442 exon2 c.5884-88A>G 0.61262 0.7262 0.530223 Uncertain 17_62463825_-->G 17 62463825 62463825 - G indel 2293.73 1/1 99 56 0 56 1.0 intronic rs199721035 MILR1 AU NM_001291316 exon4 c.2194+63insG 1 1 1 1 Uncertain 17_62479273_A->C 17 62479273 62479273 A C snp 46.77 0/1 33 3 1 2 0.67 intronic POLG2 AD NM_007215 exon3 c.5177+157A>C 0.28135 0.4137 Uncertain 17_62502435_A->G 17 62502435 62502435 A G snp 278.77 0/1 99 31 20 11 0.35 UTR5 rs1991401 DDX5 AU 0.297923 0.4127 Uncertain 17_62528856_A->G 17 62528856 62528856 A G snp 337.77 0/1 99 39 25 14 0.36 intronic CEP95 AU NM_138363 exon15 c.25741-100A>G Uncertain 17_62541852_G->A 17 62541852 62541852 G A snp 153.77 0/1 63 8 3 5 0.63 UTR3 SMURF2 AU Uncertain 17_62754586_T->C 17 62754586 62754586 T C snp 7319.77 1/1 99 250 0 250 1.0 ncRNA_intronic rs9908143 LOC146880 AU 0.852835 0.8423 Uncertain 17_62758984_-->C 17 62758984 62758984 - C indel 507.73 1/1 36 12 0 12 1.0 ncRNA_intronic rs11374577 LOC146880 AU 1 1 Uncertain 17_62759007_A->C 17 62759007 62759007 A C snp 174.9 1/1 15 5 0 5 1.0 ncRNA_intronic rs7406203 LOC146880 AU 1 1 Uncertain 17_62782689_T->C 17 62782689 62782689 T C snp 2367.77 1/1 99 78 0 78 1.0 ncRNA_exonic rs6504255 PLEKHM1P AU 1 1 0.9998 0.9993 Uncertain 17_62782876_C->A 17 62782876 62782876 C A snp 763.77 0/1 99 61 32 29 0.48 ncRNA_intronic rs190405490 PLEKHM1P AU 0.00199681 0.0099 0.0007 0.0084 Uncertain 17_62825154_A->G 17 62825154 62825154 A G snp 518.77 0/1 99 86 62 24 0.28 ncRNA_intronic rs71244261 PLEKHM1P AU Uncertain 17_62924044_G->A 17 62924044 62924044 G A snp 499.77 1/1 39 13 0 13 1.0 intergenic rs6504263 LRRC37A3 AU 0.988219 1 Uncertain 17_62949856_-->A 17 62949856 62949856 - A indel 1874.73 0/1 99 99 46 53 0.54 intergenic LRRC37A3 AU Uncertain 17_62952689_C->G 17 62952689 62952689 C G snp 3255.77 1/1 99 210 46 164 0.78 intergenic rs3960389 LRRC37A3 AU 0.799321 0.8938 0.9106 0.8957 Uncertain 17_63052344_G->T 17 63052344 63052344 G T snp 190.9 1/1 15 8 0 8 1.0 intronic rs12945514 GNA13 AU NM_006572 exon4 c.42054-84G>T 0.771765 0.9802 Uncertain 17_63052361_C->G 17 63052361 63052361 C G snp 302.78 1/1 24 14 0 14 1.0 intronic rs7216195 GNA13 AU NM_006572 exon4 c.42054-67C>G 0.982827 1 Uncertain 17_63133804_A->G 17 63133804 63133804 A G snp 1077.77 1/1 78 39 0 39 1.0 intronic rs2585858 RGS9 AU NM_003835 exon1 c.57+89A>G 0.995407 1 Uncertain 17_63149361_A->C 17 63149361 63149361 A C snp 298.78 1/1 24 8 0 8 1.0 intronic rs16960673 RGS9 AU NM_003835 exon2 c.15881-178A>C 0.192292 0.5169 Uncertain 17_63156209_C->G 17 63156209 63156209 C G snp 387.77 1/1 30 10 0 10 1.0 intronic rs8069964 RGS9 AU NM_003835 exon4 c.22692-141C>G 0.477436 0.5228 Uncertain 17_63532517_G->A 17 63532517 63532517 G A snp 3037.77 1/1 99 100 0 100 1.0 exonic rs35415678 AXIN2 AU,AD synonymous SNV NM_004655 exon8 c.C2062T p.L688L 0.164337 0.2887 0.096663 0.0905 0.2786 ID=CM067349;DIS=Selective tooth agenesis, association with;TAG=DP;PUB=16432638 DP Uncertain 17_63532948_A->T 17 63532948 63532948 A T snp 695.77 1/1 51 25 0 25 1.0 intronic rs9906513 AXIN2 AU,AD NM_004655 exon5 c.6893-38A>T 0.164137 0.2937 0.094586 0.0877 0.2815 Uncertain 17_63533789_T->C 17 63533789 63533789 T C snp 2451.77 1/1 99 87 0 87 1.0 exonic rs9915936 AXIN2 AU,AD synonymous SNV NM_004655 exon6 c.A1365G p.P455P 0.909744 0.8264 0.910880 0.9144 0.8484 Uncertain 17_63534250_T->C 17 63534250 63534250 T C snp 1388.77 1/1 99 48 0 48 1.0 intronic rs8078753 AXIN2 AU,AD NM_004655 exon7 c.8227-70T>C 0.903954 0.8264 0.9006 0.8301 Uncertain 17_63545622_T->C 17 63545622 63545622 T C snp 1370.77 1/1 99 44 0 44 1.0 intronic rs35285779 AXIN2 AU,AD NM_004655 exon9 c.19544-15T>C 0.146965 0.2907 0.069506 0.0851 0.2919 Uncertain 17_63554307_A->G 17 63554307 63554307 A G snp 3264.77 0/1 99 250 120 130 0.52 exonic rs2240307 AXIN2 AU,AD synonymous SNV NM_004655 exon2 c.T432C p.I144I 0.0786741 0.1399 0.028372 0.0400 0.1657 Uncertain 17_63633073_T->C 17 63633073 63633073 T C snp 115.77 0/1 99 12 7 5 0.42 intronic rs2107654 CEP112 AU NM_001302891 exon2 c.1153-168T>C 0.489217 0.4583 Uncertain 17_63633218_A->G 17 63633218 63633218 A G snp 1350.77 0/1 99 119 58 61 0.51 intronic rs145652326 CEP112 AU NM_001302891 exon2 c.1153-23A>G 0.000798722 0.004 0.0003 0.0026 Uncertain 17_63685473_C->T 17 63685473 63685473 C T snp 50.74 1/1 6 2 0 2 1.0 intronic rs232123 CEP112 AU NM_001302891 exon4 c.53248+137C>T 0.48742 0.3512 Uncertain 17_63898157_C->T 17 63898157 63898157 C T snp 41.77 0/1 70 4 2 2 0.5 intronic rs2241008 CEP112 AU NM_001302891 exon8 c.266181-112C>T 0.607228 0.2421 Uncertain 17_63923713_C->T 17 63923713 63923713 C T snp 891.77 0/1 99 78 34 44 0.56 exonic rs74475221 CEP112 AU nonsynonymous SNV NM_001302891 exon17 c.G1841A p.R614Q 0.00599042 0.0169 0.000615 0.0051 0.0300 0.1 T 0.918 N -0.986 T 0.994 D 0.795 D Pathogenic 17_64001925_G->A 17 64001925 64001925 G A snp 818.77 1/1 60 30 0 30 1.0 intronic rs1015098 CEP112 AU NM_001302891 exon11 c.369799+38G>A 0.536342 0.875 0.361782 0.4984 0.8758 Uncertain 17_64023483_A->G 17 64023483 64023483 A G snp 516.77 1/1 39 20 0 20 1.0 intronic rs11079627 CEP112 AU NM_001302891 exon12 c.391530-135A>G 0.536342 0.875 Uncertain 17_64023493_-->A 17 64023493 64023493 - A indel 519.73 1/1 57 22 0 22 1.0 intronic rs35334393 CEP112 AU NM_001302891 exon12 c.391530-125insA 0.530152 0.8621 Uncertain 17_64023642_A->G 17 64023642 64023642 A G snp 1145.77 1/1 81 46 0 46 1.0 exonic rs11079628 CEP112 AU synonymous SNV NM_001302891 exon14 c.T1507C p.L503L 0.536342 0.873 0.344360 0.5026 0.8612 Uncertain 17_64025069_G->A 17 64025069 64025069 G A snp 59.74 1/1 6 3 0 3 1.0 intronic rs11079632 CEP112 AU NM_001302891 exon14 c.393152-171G>A 0.536342 0.875 Uncertain 17_64025926_G->T 17 64025926 64025926 G T snp 708.77 1/1 54 18 0 18 1.0 intronic rs9908964 CEP112 AU NM_001302891 exon15 c.393898-60G>T 0.997604 1 Uncertain 17_64050007_G->A 17 64050007 64050007 G A snp 1245.77 1/1 90 38 0 38 1.0 intronic rs11079637 CEP112 AU NM_001302891 exon16 c.417909+10G>A 0.536342 0.875 0.355451 0.4924 0.8758 Uncertain 17_64062830_T->A 17 64062830 64062830 T A snp 1694.77 1/1 99 64 0 64 1.0 intronic rs908713 CEP112 AU NM_001302891 exon18 c.430807-65T>A 0.992412 1 Uncertain 17_64128760_A->T 17 64128760 64128760 A T snp 2309.77 1/1 99 76 0 76 1.0 intronic rs229854 CEP112 AU NM_001302891 exon21 c.496699-27A>T 0.511981 0.8363 0.279486 0.3594 0.8416 Uncertain 17_64208230_G->A 17 64208230 64208230 G A snp 3891.77 1/1 99 143 0 143 1.0 UTR3 rs6933 APOH AU 0.76238 0.9087 0.646086 0.6307 0.9291 Uncertain 17_64208396_G->A 17 64208396 64208396 G A snp 857.77 1/1 63 28 0 28 1.0 intronic rs1558359 APOH AU NM_000042 exon1 c.56+90G>A 0.761781 0.9067 Uncertain 17_64210403_G->C 17 64210403 64210403 G C snp 56.74 1/1 6 2 0 2 1.0 intronic rs1971682 APOH AU NM_000042 exon2 c.2320-167G>C 0.767173 0.9077 Uncertain 17_64210757_C->A 17 64210757 64210757 C A snp 1495.77 1/1 99 54 0 54 1.0 exonic rs4581 APOH AU nonsynonymous SNV NM_000042 exon7 c.G796T p.V266L 0.541534 0.754 0.329694 0.3738 0.7668 0.78 T 0.0 P -0.992 T 0.0 T 0.001 T CLINSIG=non-pathogenic;CLNDBN=APOH_POLYMORPHISM;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000017417.1;CLNDSDB=.;CLNDSDBID=. ID=CM993913;DIS=Antiphospholipid syndrome, association with;TAG=DP;PUB=10446865 DP Pathogenic 17_64216644_G->A 17 64216644 64216644 G A snp 4007.77 1/1 99 133 0 133 1.0 intronic rs3744317 APOH AU NM_000042 exon4 c.8421-27G>A 0.791134 0.9077 0.691143 0.6707 0.9104 Uncertain 17_64225484_A->G 17 64225484 64225484 A G snp 2183.77 0/1 99 192 96 96 0.5 exonic rs3826358 APOH AU nonsynonymous SNV NM_000042 exon1 c.T14C p.V5A 0.00499201 0.0169 0.000846 0.0040 0.0133 0.19 T 1 N -1.052 T 0.003 T 0.003 T Pathogenic 17_64298959_-->G 17 64298959 64298959 - G indel 2132.73 0/1 99 175 89 86 0.49 UTR5 rs3833857 PRKCA AU 0.2217 0.2737 Uncertain 17_64728707_C->T 17 64728707 64728707 C T snp 742.77 0/1 99 64 33 31 0.48 intronic rs9912154 PRKCA AU NM_002737 exon9 c.429836-98C>T 0.228634 0.3859 Uncertain 17_64735035_-->T 17 64735035 64735035 - T indel 5012.73 1/1 99 165 0 165 1.0 intronic rs397816341 PRKCA AU NM_002737 exon11 c.436004+62insT 0.99361 1 Uncertain 17_64735143_G->A 17 64735143 64735143 G A snp 834.77 0/1 99 47 17 30 0.64 intronic rs4324167 PRKCA AU NM_002737 exon11 c.436004+170G>A 0.161741 0.123 Uncertain 17_64735157_T->C 17 64735157 64735157 T C snp 291.77 0/1 99 35 23 12 0.34 intronic rs9892696 PRKCA AU NM_002737 exon11 c.436004+184T>C 0.407149 0.5883 Uncertain 17_64737717_T->A 17 64737717 64737717 T A snp 3072.77 1/1 99 117 0 117 1.0 intronic rs3803821 PRKCA AU NM_002737 exon12 c.438807-59T>A 0.546725 0.5337 0.581691 Uncertain 17_64738635_G->A 17 64738635 64738635 G A snp 414.77 0/1 99 47 31 16 0.34 intronic rs61761552 PRKCA AU NM_002737 exon13 c.439770-104G>A 0.16254 0.1161 Uncertain 17_64738988_G->A 17 64738988 64738988 G A snp 262.8 1/1 21 7 0 7 1.0 intronic rs9894851 PRKCA AU NM_002737 exon13 c.439909+110G>A 0.898762 0.9147 Uncertain 17_64783081_G->A 17 64783081 64783081 G A snp 7139.77 1/1 99 250 0 250 1.0 exonic rs6504459 PRKCA AU nonsynonymous SNV NM_002737 exon15 c.G1702A p.V568I 0.992013 0.999 0.980163 0.9799 0.9999 1 T 0.003 P -0.919 T 0.0 T 0.0 T Pathogenic 17_64784939_T->C 17 64784939 64784939 T C snp 1772.77 0/1 99 180 101 79 0.44 intronic rs73994621 PRKCA AU NM_002737 exon16 c.485987-17T>C 0.170128 0.1597 0.158388 0.1005 0.1787 Uncertain 17_64785022_G->A 17 64785022 64785022 G A snp 1933.77 0/1 99 177 96 81 0.46 exonic rs2228945 PRKCA AU synonymous SNV NM_002737 exon16 c.G1779A p.E593E 0.16853 0.1607 0.158312 0.0993 0.1778 ID=COSM35750;OCCURENCE=2(central_nervous_system),1(large_intestine) Uncertain 17_64785191_-->G 17 64785191 64785191 - G indel 1201.73 1/1 90 32 0 32 1.0 intronic rs11420909 PRKCA AU NM_002737 exon16 c.486128+94insG 1 1 Uncertain 17_64785203_G->A 17 64785203 64785203 G A snp 170.77 0/1 99 19 11 8 0.42 intronic rs9898776 PRKCA AU NM_002737 exon16 c.486128+106G>A 0.16873 0.1597 Uncertain 17_64961274_-->CACACACA 17 64961274 64961274 - CACACACA indel 389.14 1/1 10 26 2 24 0.92 intronic rs756757561 CACNG4 AU NM_014405 exon1 c.220+27insCACACACA 0.269923 Uncertain 17_64961276_C->A 17 64961276 64961276 C A snp 636.77 1/1 51 22 0 22 1.0 intronic rs112802203 CACNG4 AU NM_014405 exon1 c.220+29C>A 0.0508 0.1154 Uncertain 17_64961305_T->C 17 64961305 64961305 T C snp 56.74 1/1 6 3 1 2 0.67 intronic rs56193061 CACNG4 AU NM_014405 exon1 c.220+58T>C 0.467053 0.5635 Uncertain 17_65026515_A->G 17 65026515 65026515 A G snp 617.77 0/1 99 28 9 19 0.68 intronic rs2240648 CACNG4 AU NM_014405 exon4 c.65554-66A>G 0.472644 0.6835 Uncertain 17_65027740_G->C 17 65027740 65027740 G C snp 7464.77 1/1 99 250 0 250 1.0 UTR3 rs740555 CACNG4 AU 0.34984 0.6954 0.3783 0.6814 0 D 0.001 P -0.971 T Uncertain 17_65050305_T->C 17 65050305 65050305 T C snp 216.84 1/1 18 6 0 6 1.0 intronic rs2270084 CACNG1 AU NM_000727 exon2 c.9410+119T>C 0.846046 0.9762 Uncertain 17_65051105_A->- 17 65051105 65051105 A - indel 2576.73 1/1 99 62 0 62 1.0 intronic rs11322532 CACNG1 AU NM_000727 exon3 c.10442-113delA 0.577276 0.8611 Uncertain 17_65051180_A->G 17 65051180 65051180 A G snp 3960.77 1/1 99 154 0 154 1.0 intronic rs2363844 CACNG1 AU NM_000727 exon3 c.10442-38A>G 0.717053 0.869 0.606028 0.6470 0.8734 Uncertain 17_65074354_-->A 17 65074354 65074354 - A indel 1337.73 1/1 99 48 0 48 1.0 UTR3 rs35467630 HELZ AU 0.378594 0.6528 0.3769 0.6055 Uncertain 17_65104666_T->G 17 65104666 65104666 T G snp 2444.77 1/1 99 82 0 82 1.0 exonic rs11657929 HELZ AU synonymous SNV NM_014877 exon30 c.A4666C p.R1556R 0.71865 0.881 0.563210 0.6049 0.8898 Uncertain 17_65104743_G->A 17 65104743 65104743 G A snp 2853.77 1/1 99 101 1 100 0.99 exonic rs11653020 HELZ AU nonsynonymous SNV NM_014877 exon30 c.C4589T p.A1530V 0.976038 1 0.951135 0.9538 1 0.32 T 0.0 P -0.974 T 0.0 T 0.0 T Pathogenic 17_65116491_T->C 17 65116491 65116491 T C snp 2046.77 1/1 99 74 0 74 1.0 intronic rs12709454 HELZ AU NM_014877 exon7 c.42153-29T>C 0.869609 0.9812 0.778573 0.7817 0.9748 Uncertain 17_65119931_-->TGTGTGTG 17 65119931 65119931 - TGTGTGTG indel 1620.73 1/1 57 21 0 21 1.0 intronic rs148790310 HELZ AU NM_014877 exon9 c.45711-147insTGTGTGTG Uncertain 17_65142070_-->A 17 65142070 65142070 - A indel 1045.73 1/1 99 52 0 52 1.0 intronic rs34812114 HELZ AU NM_014877 exon13 c.67639+64insA 0.402556 0.6806 Uncertain 17_65145874_A->G 17 65145874 65145874 A G snp 695.77 1/1 51 21 0 21 1.0 intronic rs3213754 HELZ AU NM_014877 exon15 c.71615-108A>G 0.404553 0.6845 Uncertain 17_65156919_G->C 17 65156919 65156919 G C snp 814.77 1/1 60 27 0 27 1.0 intronic rs1035176 HELZ AU NM_014877 exon18 c.82645-93G>C 0.609625 0.8829 Uncertain 17_65157277_A->T 17 65157277 65157277 A T snp 571.77 1/1 45 18 0 18 1.0 intronic rs2287127 HELZ AU NM_014877 exon18 c.82825+85A>T 0.401757 0.6845 Uncertain 17_65211876_A->C 17 65211876 65211876 A C snp 544.77 1/1 42 20 0 20 1.0 intronic rs10512514 HELZ AU NM_014877 exon29 c.137647-138A>C 0.398363 0.6835 Uncertain 17_65340620_C->A 17 65340620 65340620 C A snp 267.8 1/1 21 7 0 7 1.0 intronic rs4791292 PSMD12 AU NM_002816 exon3 c.3763-101C>A 0.649361 0.4931 Uncertain 17_65467631_TG->- 17 65467631 65467632 TG - indel 197.73 0/1 33 6 1 5 0.83 intronic rs199538666 PITPNC1 AU NM_012417 exon2 c.154647-61286_154647-61285delTG 0.00279553 0.0139 0.004906 0.0037 0.0654 Uncertain 17_65528801_C->T 17 65528801 65528801 C T snp 300.77 0/1 99 21 10 11 0.52 intronic rs2304278 PITPNC1 AU NM_012417 exon2 c.154647-116C>T 0.827476 0.8135 Uncertain 17_65548540_G->T 17 65548540 65548540 G T snp 2765.77 1/1 99 99 0 99 1.0 intronic rs2916133 PITPNC1 AU NM_012417 exon3 c.174191+79G>T 0.81849 0.8621 Uncertain 17_65549847_A->G 17 65549847 65549847 A G snp 455.77 1/1 36 18 0 18 1.0 intronic rs2570046 PITPNC1 AU NM_012417 exon4 c.175463+114A>G 0.854832 0.8641 Uncertain 17_65574283_A->G 17 65574283 65574283 A G snp 7634.77 1/1 99 250 0 250 1.0 intronic rs2570035 PITPNC1 AU NM_012417 exon5 c.200031-18A>G 0.845847 0.873 0.847945 0.8444 0.8905 Uncertain 17_65574437_A->G 17 65574437 65574437 A G snp 3295.77 1/1 99 100 0 100 1.0 intronic rs8082003 PITPNC1 AU NM_012417 exon5 c.200103+64A>G 0.555911 0.7599 0.397807 Uncertain 17_65714359_G->A 17 65714359 65714359 G A snp 1443.77 1/1 99 39 0 39 1.0 intronic rs3760226 NOL11 AU NM_015462 exon1 c.141+155G>A 0.922324 0.9494 Uncertain 17_65717525_T->C 17 65717525 65717525 T C snp 623.77 0/1 99 37 12 25 0.68 exonic rs2291284 NOL11 AU nonsynonymous SNV NM_015462 exon4 c.T344C p.V115A 0.0626997 0.2411 0.001461 0.0323 0.2760 0.33 T 0.001 P -0.945 T 0.189 T 0.058 T Pathogenic 17_65718799_A->- 17 65718799 65718799 A - indel 106.74 0/1 29 12 2 10 0.83 intronic rs546398341 NOL11 AU NM_015462 exon5 c.4690+46delA 0.720647 0.6548 0.8032 0.6511 Uncertain 17_65720346_A->G 17 65720346 65720346 A G snp 636.77 0/1 99 60 32 28 0.47 intronic rs11654692 NOL11 AU NM_001303272 exon5 c.118+37A>G 0.465056 0.5188 0.464731 0.5392 0.4838 Uncertain 17_65722849_G->A 17 65722849 65722849 G A snp 244.77 0/1 99 24 15 9 0.38 intronic rs3744268 NOL11 AU NM_001303272 exon6 c.2573+85G>A 0.758387 0.6835 Uncertain 17_65730404_G->A 17 65730404 65730404 G A snp 1835.77 1/1 99 67 0 67 1.0 intronic rs4790943 NOL11 AU NM_001303272 exon7 c.10287-74G>A 0.869609 0.9286 Uncertain 17_65732959_A->G 17 65732959 65732959 A G snp 45.77 0/1 74 8 4 4 0.5 intronic rs7223990 NOL11 AU NM_001303272 exon9 c.12679+89A>G 0.738818 0.6855 Uncertain 17_65733119_T->C 17 65733119 65733119 T C snp 344.77 0/1 99 31 15 16 0.52 intronic rs3752647 NOL11 AU NM_001303272 exon10 c.12995-67T>C 0.463059 0.5069 Uncertain 17_65734514_A->G 17 65734514 65734514 A G snp 3817.77 1/1 99 134 0 134 1.0 intronic rs1542610 NOL11 AU NM_001303272 exon13 c.14280+43A>G 0.896765 0.9504 0.883657 0.8911 0.9511 Uncertain 17_65734828_A->G 17 65734828 65734828 A G snp 120.78 0/1 27 5 1 4 0.8 intronic rs7215206 NOL11 AU NM_001303272 exon14 c.14856-219A>G 0.713059 0.6677 Uncertain 17_65735563_G->A 17 65735563 65735563 G A snp 348.77 0/1 99 30 14 16 0.53 intronic rs2286916 NOL11 AU NM_001303272 exon15 c.15440-68G>A 0.493211 0.5069 Uncertain 17_65737017_T->- 17 65737017 65737017 T - indel 344.73 1/1 39 18 0 18 1.0 intronic rs34886243 NOL11 AU NM_001303272 exon15 c.15533+1293delT 0.834065 0.9494 Uncertain 17_65739627_A->G 17 65739627 65739627 A G snp 705.77 0/1 99 40 12 28 0.7 exonic rs10127 NOL11 AU synonymous SNV NM_001303272 exon16 c.A1422G p.A474A 0.48742 0.5069 0.499923 0.5316 0.4596 Uncertain 17_65739789_A->G 17 65739789 65739789 A G snp 1625.77 0/1 99 124 52 72 0.58 intronic rs2286917 NOL11 AU NM_001303272 exon17 c.19667-69A>G 0.714457 0.6746 Uncertain 17_65739797_A->T 17 65739797 65739797 A T snp 1656.77 0/1 99 126 55 71 0.56 intronic rs2286918 NOL11 AU NM_001303272 exon17 c.19667-61A>T 0.581869 0.6438 Uncertain 17_65821481_C->T 17 65821481 65821481 C T snp 680.77 1/1 51 24 0 24 1.0 upstream rs12945266 BPTF AU 0.761981 0.8056 Uncertain 17_65849927_T->G 17 65849927 65849927 T G snp 98.77 0/1 99 10 6 4 0.4 intronic rs2046323 BPTF AU NM_004459 exon2 c.28215-128T>G 0.296526 0.6796 Uncertain 17_65862853_G->A 17 65862853 65862853 G A snp 734.77 0/1 99 59 32 27 0.46 intronic rs76871039 BPTF AU NM_004459 exon3 c.40963+50G>A 0.0872604 0.3413 0.019535 0.0477 0.3255 Uncertain 17_65871559_G->A 17 65871559 65871559 G A snp 129.77 0/1 99 17 12 5 0.29 intronic rs9890629 BPTF AU NM_004459 exon5 c.49831-112G>A 0.402955 0.6796 Uncertain 17_65871598_G->A 17 65871598 65871598 G A snp 491.77 0/1 99 53 31 22 0.42 intronic rs12451707 BPTF AU NM_004459 exon5 c.49831-73G>A 0.295327 0.6796 Uncertain 17_65882172_A->G 17 65882172 65882172 A G snp 598.77 0/1 99 37 15 22 0.59 intronic rs4318247 BPTF AU NM_004459 exon6 c.60403-71A>G 0.296526 0.6796 Uncertain 17_65882457_T->A 17 65882457 65882457 T A snp 858.77 1/1 63 28 0 28 1.0 intronic rs8072824 BPTF AU NM_004459 exon6 c.60592+25T>A 0.868211 0.881 0.889589 0.9377 0.8933 Uncertain 17_65887896_A->G 17 65887896 65887896 A G snp 885.77 0/1 99 67 34 33 0.49 intronic rs8079754 BPTF AU NM_004459 exon7 c.66119-63A>G 0.296725 0.6796 Uncertain 17_65918807_A->G 17 65918807 65918807 A G snp 40.77 0/1 31 3 1 2 0.67 intronic rs12600941 BPTF AU NM_004459 exon16 c.97115-148A>G 0.273363 0.6786 Uncertain 17_65944515_A->C 17 65944515 65944515 A C snp 1315.77 0/1 99 96 43 53 0.55 intronic BPTF AU NM_004459 exon25 c.122582+93A>C 0.316094 0.6935 Uncertain 17_65955651_T->C 17 65955651 65955651 T C snp 3312.77 1/1 99 127 0 127 1.0 splicing BPTF AU NM_004459 exon26 c.133816-5T>C 0.874201 1 0.871538 0.9621 1 Pathogenic 17_65959300_A->G 17 65959300 65959300 A G snp 387.77 1/1 30 10 0 10 1.0 intronic BPTF AU NM_004459 exon27 c.138487-1027A>G 0.970847 1 Uncertain 17_65962538_-->T 17 65962538 65962538 - T indel 1046.73 0/1 99 59 28 31 0.53 intronic BPTF AU NM_004459 exon28 c.140847-149insT 0.540935 0.3036 Uncertain 17_65988049_T->C 17 65988049 65988049 T C snp 1335.77 0/1 99 131 71 60 0.46 exonic C17orf58 AU nonsynonymous SNV NM_181655 exon3 c.A274G p.I92V 0.487021 0.2659 0.622208 0.6389 0.2758 1 T 0.0 P -0.970 T 0.0 T 0.0 T Pathogenic 17_65989048_T->C 17 65989048 65989048 T C snp 4771.77 1/1 99 183 1 182 0.99 exonic C17orf58 AU nonsynonymous SNV NM_181656 exon2 c.A215G p.E72G 0.919928 1 0.927064 0.9781 1 0.12 T 0.0 P -1.070 T 0.0 T 0.0 T Pathogenic 17_66036934_-->T 17 66036934 66036934 - T indel 1034.73 0/1 99 86 33 53 0.62 intronic rs35884438 KPNA2 AU NM_002266 exon4 c.3634+52insT 0.3600 0.6787 Uncertain 17_66036943_-->G 17 66036943 66036943 - G indel 994.73 0/1 99 84 41 43 0.51 intronic rs141699894 KPNA2 AU NM_002266 exon4 c.3634+61insG 0.413339 0.2569 Uncertain 17_66038181_C->G 17 66038181 66038181 C G snp 1257.77 0/1 99 101 46 55 0.54 intronic KPNA2 AU NM_002266 exon5 c.4952-19C>G 0.517971 0.2847 0.640615 0.6583 0.2855 Uncertain 17_66038556_G->A 17 66038556 66038556 G A snp 1783.77 0/1 99 118 45 73 0.62 intronic KPNA2 AU NM_002266 exon5 c.5221+87G>A 0.292133 0.6796 Uncertain 17_66039350_A->G 17 66039350 66039350 A G snp 1917.77 0/1 99 172 89 83 0.48 exonic KPNA2 AU synonymous SNV NM_002266 exon7 c.A801G p.V267V 0.51857 0.2847 0.641396 0.6544 0.2820 Uncertain 17_66039618_G->A 17 66039618 66039618 G A snp 260.77 0/1 99 15 5 10 0.67 intronic KPNA2 AU NM_002266 exon7 c.6231+139G>A 0.501398 0.2847 Uncertain 17_66039668_A->G 17 66039668 66039668 A G snp 50.74 1/1 6 3 1 2 0.67 intronic KPNA2 AU NM_002266 exon7 c.6231+189A>G 0.518171 0.2847 Uncertain 17_66122977_C->A 17 66122977 66122977 C A snp 189.77 0/1 99 12 5 7 0.58 ncRNA_exonic LINC00674 AU 0.241214 0.2073 Uncertain 17_66124328_C->T 17 66124328 66124328 C T snp 2462.77 0/1 99 182 81 101 0.55 ncRNA_exonic LINC00674 AU 0.0930511 0.1478 Uncertain 17_66246416_A->G 17 66246416 66246416 A G snp 2404.77 1/1 99 77 0 77 1.0 exonic AMZ2 AU nonsynonymous SNV NM_001033574 exon2 c.A88G p.N30D 0.797923 0.7619 0.758727 0.7180 0.7766 1 T 0.0 P -1.015 T 0.0 T 0.0 T Pathogenic 17_66253095_T->A 17 66253095 66253095 T A snp 1526.77 1/1 99 47 0 47 1.0 exonic AMZ2 AU synonymous SNV NM_001033574 exon6 c.T894A p.A298A 0.370607 0.4762 0.313317 0.3492 0.5134 Uncertain 17_66267650_T->G 17 66267650 66267650 T G snp 454.77 0/1 99 46 26 20 0.43 exonic SLC16A6 AU nonsynonymous SNV NM_004694 exon5 c.A651C p.E217D 0.160743 0.1319 0.179917 0.1687 0.1702 0.25 T 0.000 P -1.055 T 0.351 T 0.131 T Pathogenic 17_66270082_A->G 17 66270082 66270082 A G snp 2869.77 0/1 99 250 126 124 0.5 exonic SLC16A6 AU nonsynonymous SNV NM_004694 exon3 c.T362C p.I121T 0.116613 0.1438 0.115408 0.1243 0.1664 0.22 T 0.999 P -1.061 T 0.033 T 0.063 T Pathogenic 17_66352611_A->G 17 66352611 66352611 A G snp 182.9 1/1 15 5 0 5 1.0 intronic rs2041982 ARSG AU NM_014960 exon6 c.49173-196A>G 0.455272 0.2242 Uncertain 17_66364749_T->C 17 66364749 66364749 T C snp 1107.77 0/1 99 91 52 39 0.43 exonic rs1558877 ARSG AU synonymous SNV NM_014960 exon7 c.T765C p.P255P 0.511382 0.2708 0.560357 0.5229 0.2867 Uncertain 17_66364804_T->C 17 66364804 66364804 T C snp 1782.77 0/1 99 187 104 83 0.44 exonic rs1558878 ARSG AU nonsynonymous SNV NM_014960 exon7 c.T820C p.W274R 0.359425 0.2351 0.445948 0.4439 0.2435 0.54 T 0.0 P -0.914 T 0.0 T 0.0 T Pathogenic 17_66366739_C->T 17 66366739 66366739 C T snp 454.77 0/1 99 25 8 17 0.68 intronic rs3744301 ARSG AU NM_014960 exon8 c.63031+74C>T 0.0832668 0.1091 Uncertain 17_66381403_A->G 17 66381403 66381403 A G snp 708.77 0/1 99 41 13 28 0.68 intronic rs3744302 ARSG AU NM_014960 exon9 c.77679+90A>G 0.0513179 0.1657 Uncertain 17_66391276_G->A 17 66391276 66391276 G A snp 1306.77 0/1 99 124 72 52 0.42 exonic rs9972951 ARSG AU nonsynonymous SNV NM_014960 exon10 c.G1154A p.R385H 0.111821 0.2153 0.035445 0.0681 0.2249 0.62 T 0.001 P -0.991 T 0.006 T 0.004 T Pathogenic 17_66420766_T->C 17 66420766 66420766 T C snp 673.77 1/1 51 18 0 18 1.0 intronic rs3785605 WIPI1 AU NM_017983 exon2 c.4302-1449T>C 0.803914 0.6885 0.795445 Uncertain 17_66422065_C->A 17 66422065 66422065 C A snp 187.77 0/1 99 16 8 8 0.5 intronic rs56196726 WIPI1 AU NM_017983 exon2 c.4302-150C>A 0.0926518 0.1647 Uncertain 17_66422158_A->G 17 66422158 66422158 A G snp 393.77 0/1 99 33 14 19 0.58 intronic rs12946747 WIPI1 AU NM_017983 exon2 c.4302-57A>G 0.197284 0.0486 0.2383 0.0565 Uncertain 17_66424923_C->T 17 66424923 66424923 C T snp 219.77 0/1 99 31 19 12 0.39 intronic rs1002446 WIPI1 AU NM_017983 exon4 c.7056-46C>T 0.208067 0.0437 0.257420 0.2519 0.0484 Uncertain 17_66425995_T->G 17 66425995 66425995 T G snp 1277.77 1/1 93 40 0 40 1.0 intronic rs3785610 WIPI1 AU NM_017983 exon5 c.8223-141T>G 0.775559 0.6865 Uncertain 17_66425997_C->T 17 66425997 66425997 C T snp 1368.77 1/1 99 42 0 42 1.0 intronic rs3785611 WIPI1 AU NM_017983 exon5 c.8223-139C>T 0.775559 0.6865 Uncertain 17_66430889_G->A 17 66430889 66430889 G A snp 827.77 0/1 99 87 52 35 0.4 intronic rs16972958 WIPI1 AU NM_017983 exon7 c.12854+122G>A 0.108027 0.1607 Uncertain 17_66519857_-->T 17 66519857 66519857 - T indel 453.73 0/1 99 64 43 21 0.33 intronic rs35723852 PRKAR1A AU,AD,AR NM_002734 exon4 c.8325-8insT 0.22524 0.1845 0.226757 0.2224 0.1520 Uncertain 17_66524987_G->A 17 66524987 66524987 G A snp 3667.77 1/1 99 138 0 138 1.0 intronic rs2302230 PRKAR1A AU,AD,AR NM_002734 exon9 c.13470-23G>A 0.804113 0.8909 0.729971 0.7145 0.9031 Uncertain 17_66526027_G->T 17 66526027 66526027 G T snp 3114.77 1/1 99 118 0 118 1.0 intronic rs2302231 PRKAR1A AU,AD,AR NM_002734 exon10 c.14520-33G>T 0.780551 0.8909 0.704982 0.7069 0.9030 Uncertain 17_66533655_A->G 17 66533655 66533655 A G snp 4393.77 1/1 99 162 1 161 0.99 exonic rs2907373 FAM20A AR nonsynonymous SNV NM_017565 exon11 c.T1589C p.L530S 0.797125 0.8958 0.719745 0.7115 0.9048 0.76 T 0.0 P -1.000 T 0.0 T 0.0 T Pathogenic 17_66533979_C->G 17 66533979 66533979 C G snp 186.77 0/1 99 14 5 9 0.64 intronic rs2286556 FAM20A AR NM_017565 exon1 c.265+97C>G 0.357228 0.5427 Uncertain 17_66535374_G->A 17 66535374 66535374 G A snp 852.77 0/1 99 83 48 35 0.42 intronic rs193135974 FAM20A AR NM_017565 exon2 c.1860-103G>A 0.000798722 0.004 Uncertain 17_66536213_AG->- 17 66536213 66536214 AG - indel 582.73 0/1 99 33 17 16 0.48 intronic rs3214285 FAM20A AR NM_017565 exon3 c.2490+106_2490+107delAG 0.215655 0.1845 Uncertain 17_66536219_G->C 17 66536219 66536219 G C snp 852.77 1/1 63 24 0 24 1.0 intronic rs2286558 FAM20A AR NM_017565 exon3 c.2490+112G>C 0.796326 0.8929 Uncertain 17_66538239_G->T 17 66538239 66538239 G T snp 2177.77 0/1 99 210 115 95 0.45 exonic rs2302234 FAM20A AR nonsynonymous SNV NM_017565 exon7 c.C996A p.N332K 0.357827 0.5446 0.293249 0.3236 0.5731 0.79 T 1.000 P -0.988 T 0.811 T 0.341 P Pathogenic 17_66539847_C->T 17 66539847 66539847 C T snp 900.77 0/1 99 80 43 37 0.46 exonic rs2286562 FAM20A AR synonymous SNV NM_017565 exon5 c.G735A p.E245E 0.234026 0.4534 0.154313 0.2079 0.4659 Uncertain 17_66547249_G->A 17 66547249 66547249 G A snp 2993.77 0/1 99 250 124 126 0.5 intronic rs9789047 FAM20A AR NM_017565 exon8 c.14396-764G>A 0.147963 0.1131 0.1521 0.0909 Uncertain 17_66547409_G->C 17 66547409 66547409 G C snp 1200.77 0/1 99 84 38 46 0.55 intronic rs11657445 FAM20A AR NM_017565 exon8 c.14396-604G>C 0.0898562 0.0625 Uncertain 17_66547865_T->C 17 66547865 66547865 T C snp 120.77 0/1 69 7 3 4 0.57 intronic rs190872111 FAM20A AR NM_017565 exon8 c.14396-148T>C 0.148762 0.1131 Uncertain 17_66550887_G->A 17 66550887 66550887 G A snp 592.77 0/1 99 43 21 22 0.51 intronic rs35495396 FAM20A AR NM_017565 exon9 c.17300-30G>A 0.144768 0.1131 0.154852 0.1600 0.0958 Uncertain 17_66872802_G->C 17 66872802 66872802 G C snp 4233.77 1/1 99 150 0 150 1.0 exonic rs1481 ABCA8 AU synonymous SNV NM_007168 exon32 c.C4122G p.P1374P 0.813498 0.9871 0.730201 0.7890 0.9919 Uncertain 17_66880081_A->G 17 66880081 66880081 A G snp 347.78 1/1 27 10 0 10 1.0 intronic rs8080098 ABCA8 AU NM_007168 exon12 c.15798+58A>G 0.898363 0.997 Uncertain 17_66880371_G->A 17 66880371 66880371 G A snp 182.9 1/1 15 6 0 6 1.0 intronic rs1470293 ABCA8 AU NM_007168 exon13 c.16246-100G>A 0.898363 0.997 Uncertain 17_66880405_T->C 17 66880405 66880405 T C snp 71.77 0/1 99 10 7 3 0.3 intronic rs3744492 ABCA8 AU NM_007168 exon13 c.16246-66T>C 0.447484 0.5774 0.379991 Uncertain 17_66881125_C->T 17 66881125 66881125 C T snp 67.78 1/1 6 3 0 3 1.0 intronic rs3744493 ABCA8 AU NM_007168 exon14 c.17111-211C>T 0.441893 0.5585 Uncertain 17_66883719_A->G 17 66883719 66883719 A G snp 2345.77 1/1 99 76 2 74 0.97 intronic rs6501839 ABCA8 AU NM_007168 exon16 c.19422+72A>G 0.898363 0.997 Uncertain 17_66890117_C->G 17 66890117 66890117 C G snp 351.77 0/1 99 18 6 12 0.67 intronic rs4148000 ABCA8 AU NM_007168 exon18 c.26088-196C>G 0.428115 0.4266 Uncertain 17_66890118_A->G 17 66890118 66890118 A G snp 140.77 0/1 99 18 12 6 0.33 intronic rs4147999 ABCA8 AU NM_007168 exon18 c.26088-195A>G 0.467252 0.5704 Uncertain 17_66899710_C->G 17 66899710 66899710 C G snp 467.77 0/1 99 32 16 16 0.5 intronic rs3744494 ABCA8 AU NM_007168 exon21 c.35415+70C>G 0.453674 0.5694 Uncertain 17_66899725_C->G 17 66899725 66899725 C G snp 333.77 0/1 99 22 11 11 0.5 intronic rs3744495 ABCA8 AU NM_007168 exon21 c.35415+85C>G 0.442093 0.5595 Uncertain 17_66899733_C->T 17 66899733 66899733 C T snp 241.77 0/1 99 17 9 8 0.47 intronic rs3744496 ABCA8 AU NM_007168 exon21 c.35415+93C>T 0.441893 0.5595 Uncertain 17_66913372_T->G 17 66913372 66913372 T G snp 149.77 0/1 99 9 4 5 0.56 intronic rs4147991 ABCA8 AU NM_007168 exon24 c.49276-129T>G 0.139976 0.1974 Uncertain 17_66917399_C->T 17 66917399 66917399 C T snp 68.77 0/1 97 8 5 3 0.38 intronic rs143330466 ABCA8 AU NM_007168 exon27 c.53297-123C>T 0.0547125 0.1954 Uncertain 17_66925923_C->T 17 66925923 66925923 C T snp 541.77 0/1 99 34 12 22 0.65 intronic rs4147976 ABCA8 AU NM_007168 exon32 c.61618+80C>T 0.51877 0.3909 Uncertain 17_66928229_C->T 17 66928229 66928229 C T snp 41.77 0/1 62 4 2 2 0.5 intronic rs4147971 ABCA8 AU NM_007168 exon33 c.64203-199C>T 0.596046 0.37 Uncertain 17_66928434_C->T 17 66928434 66928434 C T snp 2118.77 0/1 99 175 86 89 0.51 exonic rs3826430 ABCA8 AU synonymous SNV NM_007168 exon6 c.G792A p.A264A 0.0599042 0.1984 0.016838 0.0431 0.2049 Uncertain 17_66933003_C->T 17 66933003 66933003 C T snp 263.77 0/1 99 27 14 13 0.48 intronic rs4147967 ABCA8 AU NM_007168 exon35 c.68866-88C>T 0.268171 0.5437 Uncertain 17_66938232_A->G 17 66938232 66938232 A G snp 285.77 0/1 99 27 16 11 0.41 intronic rs4147958 ABCA8 AU NM_007168 exon37 c.73955+52A>G 0.635982 0.3948 Uncertain 17_66938260_A->G 17 66938260 66938260 A G snp 144.77 0/1 99 14 8 6 0.43 intronic rs4147957 ABCA8 AU NM_007168 exon37 c.73955+80A>G 0.486821 0.374 Uncertain 17_66986162_A->C 17 66986162 66986162 A C snp 3305.77 1/1 99 109 0 109 1.0 intronic rs9902444 ABCA9 AU NM_080283 exon10 c.14016+91A>C 0.998403 1 Uncertain 17_67004169_C->T 17 67004169 67004169 C T snp 457.77 0/1 99 23 8 15 0.65 ncRNA_intronic ABCA9-AS1 AU Uncertain 17_67013621_A->G 17 67013621 67013621 A G snp 129.77 0/1 99 17 11 6 0.35 ncRNA_intronic rs201591588 ABCA9-AS1 AU Uncertain 17_67031369_T->C 17 67031369 67031369 T C snp 2714.77 1/1 99 102 0 102 1.0 intronic rs1860448 ABCA9 AU NM_080283 exon32 c.59331-17T>C 0.948882 1 0.943565 0.9571 0.9996 Uncertain 17_67031457_C->T 17 67031457 67031457 C T snp 3172.77 1/1 99 121 0 121 1.0 exonic rs1860447 ABCA9 AU nonsynonymous SNV NM_080283 exon8 c.G1058A p.R353H 0.857827 1 0.856374 0.9204 0.9994 0.52 T 0.000 P -0.986 T 0.0 T 0.004 T Pathogenic 17_67041608_T->C 17 67041608 67041608 T C snp 423.77 1/1 36 12 0 12 1.0 intronic rs9789083 ABCA9 AU NM_080283 exon36 c.69422+131T>C 0.260583 0.5843 Uncertain 17_67047048_T->- 17 67047048 67047048 T - indel 535.73 1/1 42 14 0 14 1.0 intronic rs35873471 ABCA9 AU NM_080283 exon38 c.75116-123delT 0.323882 0.6379 Uncertain 17_67047428_G->A 17 67047428 67047428 G A snp 499.77 1/1 39 13 0 13 1.0 intronic rs8067578 ABCA9 AU NM_080283 exon38 c.75225+148G>A 0.424521 0.6736 Uncertain 17_67075294_C->T 17 67075294 67075294 C T snp 1332.77 0/1 99 172 105 67 0.39 intronic rs2302289 ABCA6 AU NM_080284 exon2 c.237-56C>T 0.750399 0.8819 0.790407 Uncertain 17_67077473_C->T 17 67077473 67077473 C T snp 56.74 1/1 6 2 0 2 1.0 intronic rs8082114 ABCA6 AU NM_080284 exon3 c.2173+187C>T 0.7502 0.8819 Uncertain 17_67080770_A->G 17 67080770 67080770 A G snp 768.77 0/1 99 52 21 31 0.6 intronic rs11657954 ABCA6 AU NM_080284 exon7 c.5535+122A>G 0.606629 0.3194 Uncertain 17_67081732_C->T 17 67081732 67081732 C T snp 696.77 0/1 99 53 21 32 0.6 intronic rs2302133 ABCA6 AU NM_080284 exon9 c.6652-33C>T 0.482428 0.3194 0.552822 0.5825 0.2659 Uncertain 17_67081830_T->C 17 67081830 67081830 T C snp 1443.77 0/1 99 113 48 65 0.58 exonic rs2302134 ABCA6 AU nonsynonymous SNV NM_080284 exon31 c.A3965G p.N1322S 0.459864 0.375 0.514609 0.5867 0.3270 0 D 1.000 P -1.011 T 0.841 T 0.45 P Pathogenic 17_67085457_A->G 17 67085457 67085457 A G snp 200.77 0/1 99 26 18 8 0.31 intronic rs16973562 ABCA6 AU NM_080284 exon13 c.10492-148A>G 0.0569089 0.1161 Uncertain 17_67085508_A->G 17 67085508 67085508 A G snp 609.77 0/1 99 80 56 24 0.3 intronic rs12602396 ABCA6 AU NM_080284 exon13 c.10492-97A>G 0.0571086 0.1161 Uncertain 17_67099129_A->G 17 67099129 67099129 A G snp 140.77 0/1 99 19 14 5 0.26 intronic rs2364315 ABCA6 AU NM_080284 exon19 c.23996+20A>G 0.430911 0.3185 0.507875 0.5602 0.2747 Uncertain 17_67101718_C->T 17 67101718 67101718 C T snp 132.77 0/1 30 9 2 7 0.78 exonic rs7212506 ABCA6 AU nonsynonymous SNV NM_080284 exon20 c.G2625A p.M875I 0.747804 0.881 0.779419 0.8772 0.8520 0.48 T 0.0 P -0.955 T 0.0 T 0.002 T Pathogenic 17_67108362_C->G 17 67108362 67108362 C G snp 1482.77 0/1 99 123 61 62 0.5 exonic rs9282553 ABCA6 AU nonsynonymous SNV NM_080284 exon16 c.G2094C p.M698I 0.207668 0.12 0.172920 0.1091 0.1459 0.16 T 1.000 P -0.927 T 0.0 T 0.0 T Pathogenic 17_67108577_T->C 17 67108577 67108577 T C snp 143.77 0/1 99 9 4 5 0.56 intronic rs9889289 ABCA6 AU NM_080284 exon24 c.33301+163T>C 0.240016 0.12 Uncertain 17_67109662_G->A 17 67109662 67109662 G A snp 46.77 0/1 72 5 2 3 0.6 intronic rs11659091 ABCA6 AU NM_080284 exon26 c.34645-96G>A 0.447684 0.3472 Uncertain 17_67109673_A->G 17 67109673 67109673 A G snp 120.77 0/1 66 7 2 5 0.71 intronic rs7504026 ABCA6 AU NM_080284 exon26 c.34645-85A>G 0.371805 0.3423 Uncertain 17_67109833_T->A 17 67109833 67109833 T A snp 860.77 0/1 99 89 48 41 0.46 exonic rs9282554 ABCA6 AU nonsynonymous SNV NM_080284 exon14 c.A1828T p.N610Y 0.0934505 0.12 0.057743 0.0772 0.1476 0.07 T 0.0 P -0.686 T 0.222 T 0.392 T Pathogenic 17_67109894_C->T 17 67109894 67109894 C T snp 612.77 0/1 99 46 25 21 0.46 intronic rs9282552 ABCA6 AU NM_080284 exon26 c.34765+16C>T 0.455072 0.3472 0.535989 0.5939 0.3361 Uncertain 17_67119593_G->C 17 67119593 67119593 G C snp 425.77 1/1 33 12 0 12 1.0 intronic rs4603621 ABCA6 AU NM_080284 exon30 c.44435+45G>C 0.552316 0.4673 0.596293 0.6615 0.4627 Uncertain 17_67125840_C->T 17 67125840 67125840 C T snp 1048.77 1/1 75 42 0 42 1.0 exonic rs4968839 ABCA6 AU nonsynonymous SNV NM_080284 exon7 c.G844A p.V282I 0.555112 0.4673 0.599015 0.6563 0.4518 0.33 T 0.004 P -0.903 T 0.0 T 0.002 T Pathogenic 17_67132022_T->C 17 67132022 67132022 T C snp 2749.77 1/1 99 84 0 84 1.0 intronic rs7219200 ABCA6 AU NM_080284 exon36 c.57119-210T>C 0.697284 0.4683 Uncertain 17_67145191_GA->- 17 67145191 67145192 GA - indel 2247.73 0/1 99 117 57 60 0.51 exonic rs3842375 ABCA10 AU frameshift deletion NM_080282 exon39 c.4515_4516del p.S1505fs 0.0880591 0.1111 0.060224 0.0745 0.1379 ID=COSM150869;OCCURENCE=1(stomach) Pathogenic 17_67145241_G->A 17 67145241 67145241 G A snp 1505.77 0/1 99 125 63 62 0.5 intronic rs75706760 ABCA10 AU NM_080282 exon2 c.262+12G>A 0.0880591 0.1111 0.059742 0.0745 0.1380 Uncertain 17_67149557_A->T 17 67149557 67149557 A T snp 1386.77 0/1 99 128 65 63 0.49 intronic rs12601012 ABCA10 AU NM_080282 exon6 c.4573+17A>T 0.0880591 0.1111 0.060049 0.0749 0.1384 Uncertain 17_67149973_G->A 17 67149973 67149973 G A snp 439.77 0/1 99 53 33 20 0.38 exonic rs10491178 ABCA10 AU stopgain NM_080282 exon33 c.C3964T p.R1322X 0.0886581 0.1111 0.060049 0.0757 0.1383 1 T 0.765 P ID=CM118828;DIS=Potential protein deficiency;TAG=DM?;PUB=21984973 DM? Pathogenic 17_67150118_C->T 17 67150118 67150118 C T snp 1041.77 0/1 99 129 78 51 0.4 exonic rs16973656 ABCA10 AU synonymous SNV NM_080282 exon33 c.G3819A p.R1273R 0.0878594 0.1111 0.060049 0.0747 0.1378 Uncertain 17_67150176_T->C 17 67150176 67150176 T C snp 2028.77 1/1 99 74 0 74 1.0 intronic rs2886232 ABCA10 AU NM_080282 exon8 c.5183+26T>C 0.963059 1 0.913796 0.9208 0.9998 Uncertain 17_67160186_T->C 17 67160186 67160186 T C snp 845.77 0/1 99 74 41 33 0.45 intronic rs7208382 ABCA10 AU NM_080282 exon13 c.15247-28T>C 0.488219 0.3631 0.568217 0.6134 0.3347 Uncertain 17_67170736_A->G 17 67170736 67170736 A G snp 1168.77 1/1 50 41 1 40 0.98 intronic rs740520 ABCA10 AU NM_080282 exon16 c.25780-11A>G 0.707668 0.4742 0.754775 0.7130 0.4529 Uncertain 17_67171748_A->G 17 67171748 67171748 A G snp 99.77 0/1 99 10 6 4 0.4 intronic rs12940557 ABCA10 AU NM_080282 exon17 c.26687+94A>G 0.488419 0.3641 Uncertain 17_67178316_A->G 17 67178316 67178316 A G snp 590.77 1/1 42 25 0 25 1.0 exonic rs4968849 ABCA10 AU nonsynonymous SNV NM_080282 exon23 c.T2747C p.M916T 0.711262 0.4742 0.756958 0.7118 0.4521 0.96 T 0.0 P -0.971 T 0.001 T 0.0 T Pathogenic 17_67178954_C->T 17 67178954 67178954 C T snp 582.77 1/1 48 29 0 29 1.0 splicing rs4968851 ABCA10 AU NM_080282 exon19 c.33982+5C>T 0.685703 0.4742 0.730432 0.7031 0.4517 Pathogenic 17_67178977_AA->- 17 67178977 67178978 AA - indel 362.73 0/1 47 25 4 21 0.84 intronic rs200637080 ABCA10 AU NM_080282 exon19 c.33982+28_33982+29delAA 0.232428 0.13 0.2351 0.1761 Uncertain 17_67181540_C->A 17 67181540 67181540 C A snp 39.77 0/1 68 13 8 5 0.38 intronic rs11658738 ABCA10 AU NM_080282 exon20 c.36650-77C>A 0.482228 0.3631 Uncertain 17_67181548_T->G 17 67181548 67181548 T G snp 139.77 0/1 99 16 9 7 0.44 intronic rs11655199 ABCA10 AU NM_080282 exon20 c.36650-69T>G 0.482228 0.3631 Uncertain 17_67188545_G->C 17 67188545 67188545 G C snp 86.77 0/1 30 4 1 3 0.75 intronic rs8068468 ABCA10 AU NM_080282 exon24 c.43736-158G>C 0.233626 0.1111 Uncertain 17_67188565_A->G 17 67188565 67188565 A G snp 123.78 0/1 27 5 1 4 0.8 intronic rs12602962 ABCA10 AU NM_080282 exon24 c.43736-138A>G 0.0988419 0.1111 Uncertain 17_67188576_A->G 17 67188576 67188576 A G snp 179.9 1/1 15 6 0 6 1.0 intronic rs8070232 ABCA10 AU NM_080282 exon24 c.43736-127A>G 0.913538 0.9464 Uncertain 17_67188668_T->C 17 67188668 67188668 T C snp 1474.77 1/1 99 53 0 53 1.0 intronic rs8074259 ABCA10 AU NM_080282 exon24 c.43736-35T>C 0.995607 1 0.996232 0.9968 1 Uncertain 17_67190537_ACAG->- 17 67190537 67190540 ACAG - indel 3821.73 0/1 99 133 67 66 0.5 exonic rs113082690 ABCA10 AU frameshift deletion NM_080282 exon13 c.1331_1334del p.S444fs 0.0884585 0.1111 0.111555 0.0743 0.1375 Pathogenic 17_67212031_A->G 17 67212031 67212031 A G snp 2521.77 0/1 99 223 112 111 0.5 exonic rs11077414 ABCA10 AU synonymous SNV NM_080282 exon9 c.T783C p.Y261Y 0.471446 0.3502 0.575350 0.5919 0.3004 Uncertain 17_67212423_G->A 17 67212423 67212423 G A snp 938.77 0/1 99 81 41 40 0.49 exonic rs9909216 ABCA10 AU nonsynonymous SNV NM_080282 exon8 c.C607T p.P203S 0.580671 0.3492 0.654852 0.6209 0.2993 0.87 T 0.000 P -0.965 T 0.013 T 0.029 T Pathogenic 17_67212574_A->C 17 67212574 67212574 A C snp 1224.77 1/1 90 40 0 40 1.0 intronic rs9912127 ABCA10 AU NM_080282 exon33 c.67532+75A>C 0.667332 0.4583 Uncertain 17_67215712_C->T 17 67215712 67215712 C T snp 313.77 0/1 99 26 12 14 0.54 exonic rs12941264 ABCA10 AU synonymous SNV NM_080282 exon7 c.G504A p.V168V 0.598442 0.3462 0.672411 0.6294 0.2984 Uncertain 17_67217796_C->G 17 67217796 67217796 C G snp 99.28 1/1 9 3 0 3 1.0 intronic rs10775359 ABCA10 AU NM_080282 exon35 c.72965-136C>G 0.689097 0.4683 Uncertain 17_67218197_A->G 17 67218197 67218197 A G snp 46.77 0/1 31 3 1 2 0.67 intronic rs11659119 ABCA10 AU NM_080282 exon35 c.73069+161A>G 0.471046 0.3601 Uncertain 17_67219703_G->A 17 67219703 67219703 G A snp 1288.77 1/1 93 42 0 42 1.0 intronic rs11655507 ABCA10 AU NM_080282 exon36 c.73871+865G>A 0.690695 0.4583 Uncertain 17_67220060_T->G 17 67220060 67220060 T G snp 77.77 0/1 72 6 3 3 0.5 intronic rs1468513 ABCA10 AU NM_080282 exon36 c.73871+1222T>G 0.484625 0.4147 Uncertain 17_67221314_T->C 17 67221314 67221314 T C snp 168.9 1/1 15 5 0 5 1.0 intronic rs1034877 ABCA10 AU NM_080282 exon37 c.76498-151T>C 0.998602 1 Uncertain 17_67245941_G->A 17 67245941 67245941 G A snp 388.77 1/1 30 13 0 13 1.0 intronic rs1420904 ABCA5 AU NM_018672 exon3 c.2368-104G>A 0.914736 0.9306 Uncertain 17_67252275_C->T 17 67252275 67252275 C T snp 1438.77 0/1 99 128 69 59 0.46 intronic rs80160851 ABCA5 AU NM_018672 exon11 c.8620-22C>T 0.0704872 0.0526 0.090804 0.0844 0.0740 Uncertain 17_67260926_A->G 17 67260926 67260926 A G snp 205.77 0/1 99 40 29 11 0.28 exonic rs12449649 ABCA5 AU synonymous SNV NM_018672 exon23 c.T3265C p.L1089L 0.379393 0.4058 0.391137 0.4368 0.3810 Uncertain 17_67267317_T->C 17 67267317 67267317 T C snp 1498.77 0/1 99 130 65 65 0.5 exonic rs557491 ABCA5 AU nonsynonymous SNV NM_018672 exon20 c.A2878G p.M960V 0.497404 0.6002 0.457942 0.4946 0.6242 0.000 P -0.919 T 0.0 T 0.001 T Pathogenic 17_67273882_C->A 17 67273882 67273882 C A snp 2615.77 1/1 99 102 0 102 1.0 exonic rs536009 ABCA5 AU nonsynonymous SNV NM_018672 exon18 c.G2494T p.A832S 0.801717 0.9464 0.778231 0.8472 0.9483 0.0 P -0.959 T 0.0 T 0.001 T Pathogenic 17_67274054_C->A 17 67274054 67274054 C A snp 46.77 0/1 33 3 1 2 0.67 intronic rs12452340 ABCA5 AU NM_018672 exon21 c.30306+71C>A 0.375799 0.3909 Uncertain 17_67280310_A->C 17 67280310 67280310 A C snp 56.74 1/1 6 2 0 2 1.0 intronic rs564426 ABCA5 AU NM_018672 exon22 c.36536+97A>C 0.967452 1 Uncertain 17_67282332_T->C 17 67282332 67282332 T C snp 1831.77 0/1 99 133 56 77 0.58 intronic rs1550828 ABCA5 AU NM_018672 exon24 c.38684-29T>C 0.383387 0.4058 0.395202 0.4437 0.3907 Uncertain 17_67287327_-->T 17 67287327 67287327 - T indel 273.73 0/1 99 23 10 13 0.57 intronic rs34164530 ABCA5 AU NM_018672 exon28 c.43679-29insT 0.357428 0.3819 0.4761 0.4753 Uncertain 17_67290644_C->A 17 67290644 67290644 C A snp 34.77 0/1 63 9 7 2 0.22 intronic rs2441358 ABCA5 AU NM_018672 exon29 c.47118-151C>A 0.350639 0.5506 Uncertain 17_67293535_A->G 17 67293535 67293535 A G snp 962.77 1/1 69 34 0 34 1.0 intronic rs487382 ABCA5 AU NM_018672 exon30 c.49823+35A>G 0.95647 1 0.958263 0.9884 1 Uncertain 17_67293580_C->G 17 67293580 67293580 C G snp 144.77 0/1 99 14 9 5 0.36 intronic rs568536 ABCA5 AU NM_018672 exon30 c.49823+80C>G 0.353634 0.5496 Uncertain 17_67502138_G->A 17 67502138 67502138 G A snp 1054.77 1/1 78 29 0 29 1.0 intronic rs2074027 MAP2K6 AU NM_002758 exon2 c.90862+151G>A 0.664137 0.6915 Uncertain 17_67512924_-->TT 17 67512924 67512924 - TT indel 5497.73 0/1 99 228 114 114 0.5 intronic rs35105918 MAP2K6 AU NM_002758 exon3 c.101870-71insTT 0.464257 0.4573 0.467077 Uncertain 17_67513003_C->A 17 67513003 67513003 C A snp 3387.77 0/1 99 250 122 128 0.51 exonic rs1133228 MAP2K6 AU synonymous SNV NM_002758 exon3 c.C91A p.R31R 0.427316 0.4573 0.430263 0.4364 0.4707 Uncertain 17_67513055_A->G 17 67513055 67513055 A G snp 2852.77 0/1 99 237 124 113 0.48 intronic rs2251855 MAP2K6 AU NM_002758 exon3 c.101919+11A>G 0.428514 0.4573 0.429406 0.4367 0.4711 Uncertain 17_67519542_G->A 17 67519542 67519542 G A snp 1302.77 0/1 99 84 35 49 0.58 intronic rs2251160 MAP2K6 AU NM_002758 exon8 c.108529-112G>A 0.585863 0.4722 Uncertain 17_67521241_C->A 17 67521241 67521241 C A snp 1531.77 1/1 99 47 0 47 1.0 intronic rs2716206 MAP2K6 AU NM_002758 exon9 c.109994+122C>A 0.632788 0.502 Uncertain 17_67522919_C->T 17 67522919 67522919 C T snp 394.77 0/1 99 26 10 16 0.62 intronic rs2074030 MAP2K6 AU NM_002758 exon10 c.111725+69C>T 0.564297 0.4712 Uncertain 17_67522975_T->C 17 67522975 67522975 T C snp 80.77 0/1 99 8 3 5 0.63 intronic rs2074031 MAP2K6 AU NM_002758 exon10 c.111725+125T>C 0.419529 0.4712 Uncertain 17_67523025_A->G 17 67523025 67523025 A G snp 48.74 1/1 6 3 0 3 1.0 intronic rs2521359 MAP2K6 AU NM_002758 exon10 c.111725+175A>G 0.433506 0.4712 Uncertain 17_69334553_G->C 17 69334553 69334553 G C snp 1396.77 1/1 99 54 0 54 1.0 intergenic rs4401085 CASC17 AU 0.839856 0.8115 Uncertain 17_69334972_A->C 17 69334972 69334972 A C snp 896.77 1/1 66 29 0 29 1.0 intergenic rs4996843 CASC17 AU 0.851637 0.8135 Uncertain 17_69334992_C->T 17 69334992 69334992 C T snp 476.77 1/1 36 13 0 13 1.0 intergenic rs4996844 CASC17 AU 0.58107 0.6052 Uncertain 17_69334996_C->T 17 69334996 69334996 C T snp 390.77 1/1 30 11 0 11 1.0 intergenic rs4996845 CASC17 AU 0.58107 0.6062 Uncertain 17_70119245_C->G 17 70119245 70119245 C G snp 104.77 0/1 99 15 11 4 0.27 intronic rs12950966 SOX9 AD NM_000346 exon2 c.1581+132C>G 0.320487 0.5337 Uncertain 17_70120551_A->C 17 70120551 70120551 A C snp 881.77 0/1 99 96 58 38 0.4 UTR3 rs1042667 SOX9 AD 0.354433 0.5298 0.364518 0.4011 0.5343 Uncertain 17_70845688_C->A 17 70845688 70845688 C A snp 176.77 0/1 99 19 12 7 0.37 intronic rs12449747 SLC39A11 AU NM_001159770 exon5 c.202050-84C>A 0.879792 0.9633 Uncertain 17_70845950_AA->- 17 70845950 70845951 AA - indel 1923.73 1/1 99 89 7 82 0.92 intronic rs34998299 SLC39A11 AU NM_001159770 exon5 c.202221+7_202221+8delAA 0.573682 0.6647 0.3863 0.3751 Uncertain 17_70846027_G->A 17 70846027 70846027 G A snp 406.77 0/1 99 39 24 15 0.38 intronic rs4998297 SLC39A11 AU NM_001159770 exon5 c.202221+84G>A 0.455272 0.3373 Uncertain 17_70943990_T->C 17 70943990 70943990 T C snp 2915.77 1/1 99 106 0 106 1.0 exonic rs2466517 SLC39A11 AU nonsynonymous SNV NM_001159770 exon5 c.A331G p.T111A 0.88758 0.9901 0.894049 0.9668 0.9883 0.78 T 0.000 P -0.956 T 0.0 T 0.001 T Pathogenic 17_71027543_G->A 17 71027543 71027543 G A snp 360.56 0/1 7 13 1 12 0.92 intronic rs9912666 SLC39A11 AU NM_001159770 exon7 c.383972-151G>A 0.641773 0.7758 Uncertain 17_71080747_C->T 17 71080747 71080747 C T snp 93.28 1/1 9 3 0 3 1.0 intronic rs8079240 SLC39A11 AU NM_001159770 exon8 c.437224-199C>T 0.808706 0.8829 Uncertain 17_71081078_G->A 17 71081078 71081078 G A snp 2844.77 1/1 99 98 0 98 1.0 intronic rs9891809 SLC39A11 AU NM_001159770 exon8 c.437263+93G>A 0.808506 0.8819 Uncertain 17_71166701_A->G 17 71166701 71166701 A G snp 1490.77 0/1 99 159 94 65 0.41 UTR3 rs7220818 SSTR2 AU 0.341454 0.3373 Uncertain 17_71189076_C->T 17 71189076 71189076 C T snp 133.03 1/1 12 4 0 4 1.0 upstream rs7503166 COG1 AU 0.521366 0.6171 Uncertain 17_71189155_-->GG 17 71189155 71189155 - GG indel 880.73 0/1 99 35 12 23 0.66 upstream rs3071285 COG1 AU Uncertain 17_71189182_A->G 17 71189182 71189182 A G snp 597.77 0/1 99 49 21 28 0.57 UTR5 rs3764359 COG1 AU 0.525958 0.6171 0.537879 0.5277 0.6147 Uncertain 17_71192468_C->T 17 71192468 71192468 C T snp 108.77 0/1 99 7 3 4 0.57 intronic rs1052705 COG1 AU NM_018714 exon2 c.3437-177C>T 0.521565 0.6171 Uncertain 17_71192663_G->A 17 71192663 71192663 G A snp 1321.77 0/1 99 101 47 54 0.53 exonic rs1052706 COG1 AU synonymous SNV NM_018714 exon2 c.G333A p.Q111Q 0.449481 0.6171 0.446794 0.4969 0.6142 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000081966.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 17_71192873_A->G 17 71192873 71192873 A G snp 1167.77 0/1 99 87 41 46 0.53 exonic rs11544800 COG1 AU synonymous SNV NM_018714 exon2 c.A543G p.A181A 0.451278 0.6181 0.448716 0.5013 0.6144 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000081968.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 17_71192955_C->T 17 71192955 71192955 C T snp 464.77 0/1 99 32 13 19 0.59 intronic rs1010442 COG1 AU NM_018714 exon2 c.3682+65C>T 0.523962 0.6171 Uncertain 17_71193594_G->A 17 71193594 71193594 G A snp 895.77 0/1 99 83 47 36 0.43 intronic rs7221701 COG1 AU NM_018714 exon4 c.4327+59G>A 0.521565 0.6171 Uncertain 17_71195949_C->T 17 71195949 71195949 C T snp 402.77 0/1 99 38 24 14 0.37 intronic rs1009110 COG1 AU NM_018714 exon5 c.6795-54C>T 0.525958 0.6171 Uncertain 17_71196809_A->G 17 71196809 71196809 A G snp 1493.77 0/1 99 111 46 65 0.59 exonic rs1026128 COG1 AU nonsynonymous SNV NM_018714 exon6 c.A1175G p.N392S 0.520966 0.6171 0.532139 0.5231 0.6143 1 T 0.002 P -0.964 T 0.0 T 0.001 T CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000081960.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 17_71196821_A->G 17 71196821 71196821 A G snp 1178.77 0/1 99 114 66 48 0.42 exonic rs537525479 COG1 AU nonsynonymous SNV NM_018714 exon6 c.A1187G p.N396S 8.237e-06 0.0001 1 T 1 N -0.945 T 0.0 T 0.0 T Pathogenic 17_71196995_G->A 17 71196995 71196995 G A snp 193.77 0/1 99 17 8 9 0.53 intronic rs1026129 COG1 AU NM_018714 exon6 c.7707+80G>A 0.520966 0.6171 Uncertain 17_71197200_T->C 17 71197200 71197200 T C snp 718.77 1/1 54 18 0 18 1.0 intronic rs1026130 COG1 AU NM_018714 exon7 c.8039-47T>C 0.983027 1 0.978933 0.9943 0.9994 Uncertain 17_71197748_G->A 17 71197748 71197748 G A snp 2780.77 0/1 99 248 140 108 0.44 exonic rs1037256 COG1 AU synonymous SNV NM_018714 exon7 c.G1782A p.E594E 0.525359 0.6171 0.535061 0.5235 0.6133 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000081963.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 17_71201675_T->C 17 71201675 71201675 T C snp 890.77 0/1 99 84 43 41 0.49 intronic rs3829571 COG1 AU NM_018714 exon10 c.12483-16T>C 0.863618 0.8185 0.916269 0.9442 0.8451 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000081965.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 17_71205854_A->G 17 71205854 71205854 A G snp 1037.77 0/1 99 91 47 44 0.48 exonic rs8387 FAM104A AU nonsynonymous SNV NM_001289410 exon2 c.T275C p.I92T 0.576078 0.6171 0.621657 0.5853 0.6336 Pathogenic 17_71208648_C->- 17 71208648 71208648 C - indel 699.73 0/1 99 37 17 20 0.54 intronic rs10717516 FAM104A AU NM_001098832 exon2 c.3149-168delC 0.571086 0.6171 Uncertain 17_71231604_A->C 17 71231604 71231604 A C snp 1978.77 0/1 99 167 88 79 0.47 intronic rs3751925 C17orf80 AU 0.519968 0.6379 0.529294 0.5315 0.6341 Uncertain 17_71232687_T->C 17 71232687 71232687 T C snp 1974.77 0/1 99 141 64 77 0.55 exonic rs745143 C17orf80 AU nonsynonymous SNV NM_001100621 exon3 c.T1066C p.F356L 0.519369 0.6329 0.530909 0.5234 0.6256 0.31 T 0.0 P -1.019 T 0.001 T 0.004 T Pathogenic 17_71232804_C->A 17 71232804 71232804 C A snp 4838.77 1/1 99 171 0 171 1.0 exonic rs904384 C17orf80 AU nonsynonymous SNV NM_001100621 exon3 c.C1183A p.H395N 0.990415 1 0.992157 0.9975 0.9999 1 T 0.0 P -0.944 T 0.0 T 0.0 T Pathogenic 17_71232807_T->C 17 71232807 71232807 T C snp 1787.77 0/1 99 169 98 71 0.42 exonic rs904383 C17orf80 AU nonsynonymous SNV NM_001100621 exon3 c.T1186C p.C396R 0.522364 0.6329 0.533523 0.5259 0.6253 1 T 0.0 P -0.940 T 0.0 T 0.0 T Pathogenic 17_71232881_G->C 17 71232881 71232881 G C snp 2106.77 0/1 99 211 117 94 0.45 exonic rs745142 C17orf80 AU nonsynonymous SNV NM_001100621 exon3 c.G1260C p.Q420H 0.521765 0.6329 0.533677 0.5259 0.6260 0.3 T 0.0 P -0.946 T 0.786 T 0.413 P Pathogenic 17_71233130_A->G 17 71233130 71233130 A G snp 2768.77 0/1 99 249 132 117 0.47 exonic rs11869253 C17orf80 AU synonymous SNV NM_001100621 exon3 c.A1509G p.S503S 0.519569 0.6329 0.537845 0.5337 0.6280 Uncertain 17_71238433_G->A 17 71238433 71238433 G A snp 1500.77 0/1 99 152 83 69 0.45 exonic rs1566286 C17orf80 AU nonsynonymous SNV NM_001100622 exon4 c.G1564A p.A522T 0.515974 0.6379 0.526449 0.5217 0.6339 1 T 0.0 P -0.924 T 0.0 T 0.001 T Pathogenic 17_71238491_G->A 17 71238491 71238491 G A snp 1807.77 0/1 99 134 61 73 0.54 splicing rs3764365 C17orf80 AU NM_017941 exon4 c.6869+1G>A 0.00219649 0.0099 0.000231 0.0019 0.0116 1 D ID=COSM148331;OCCURENCE=1(stomach) Pathogenic 17_71238525_A->G 17 71238525 71238525 A G snp 1068.77 0/1 99 108 63 45 0.42 intronic rs1566287 C17orf80 AU NM_017941 exon4 c.6869+35A>G 0.515974 0.6389 0.526142 0.5219 0.6340 Uncertain 17_71238693_T->C 17 71238693 71238693 T C snp 58.77 0/1 87 10 6 4 0.4 intronic rs1566288 C17orf80 AU NM_017941 exon4 c.6869+203T>C 0.515974 0.6389 Uncertain 17_71239000_T->C 17 71239000 71239000 T C snp 196.77 0/1 99 14 6 8 0.57 intronic rs2270726 C17orf80 AU NM_017941 exon5 c.7413-34T>C 0.515974 0.6389 0.526757 0.5384 0.6463 Uncertain 17_71239016_C->T 17 71239016 71239016 C T snp 192.77 0/1 99 19 9 10 0.53 intronic rs2270727 C17orf80 AU NM_017941 exon5 c.7413-18C>T 0.516174 0.6389 0.526449 0.5382 0.6450 Uncertain 17_71239190_A->T 17 71239190 71239190 A T snp 296.77 0/1 99 25 12 13 0.52 intronic rs2270728 C17orf80 AU NM_017941 exon5 c.7521+48A>T 0.516573 0.6389 0.524758 0.5344 0.6422 Uncertain 17_71239223_-->TTG 17 71239223 71239223 - TTG indel 38.73 0/1 76 12 7 5 0.42 intronic rs201445905 C17orf80 AU NM_017941 exon5 c.7521+81insTTG 0.103235 0.1032 Uncertain 17_71239234_T->G 17 71239234 71239234 T G snp 110.77 0/1 99 10 5 5 0.5 intronic rs12945160 C17orf80 AU NM_017941 exon5 c.7521+92T>G 0.00978435 0.0198 0.0013 0.0063 Uncertain 17_71244630_C->T 17 71244630 71244630 C T snp 1166.77 0/1 99 105 58 47 0.45 UTR3 rs8915 C17orf80 AU 0.698083 0.7976 0.748795 0.7255 0.8183 Uncertain 17_71250407_A->G 17 71250407 71250407 A G snp 226.8 1/1 21 7 0 7 1.0 intronic rs11077676 CPSF4L AU NM_001129885 exon3 c.5533+242A>G 0.988219 1 Uncertain 17_71344584_G->A 17 71344584 71344584 G A snp 3483.77 1/1 99 112 0 112 1.0 intronic rs4969105 SDK2 AU NM_001144952 exon2 c.10012-153G>A 0.975639 1 Uncertain 17_71344889_C->T 17 71344889 71344889 C T snp 835.77 1/1 63 23 0 23 1.0 intronic rs9905883 SDK2 AU NM_001144952 exon2 c.10139+25C>T 0.858626 0.8849 0.886343 0.9568 0.8770 Uncertain 17_71346329_-->GGGCACTGCTGGGCCTGGCCCCCCACCC 17 71346329 71346329 - GGGCACTGCTGGGCCTGGCCCCCCACCC indel 4217.73 1/1 45 15 0 15 1.0 intronic rs149822544 SDK2 AU NM_001144952 exon3 c.11650-46insGGGCACTGCTGGGCCTGGCCCCCCACCC 0.740815 0.8403 0.678969 Uncertain 17_71346353_A->C 17 71346353 71346353 A C snp 3255.77 1/1 99 99 0 99 1.0 intronic rs9748160 SDK2 AU NM_001144952 exon3 c.11650-22A>C 0.859026 0.8859 0.884710 Uncertain 17_71346750_C->G 17 71346750 71346750 C G snp 1668.77 1/1 99 66 0 66 1.0 intronic rs1995163 SDK2 AU NM_001144952 exon4 c.12063-38C>G 0.859026 0.8859 0.887590 0.9552 0.8772 Uncertain 17_71346943_A->G 17 71346943 71346943 A G snp 805.77 1/1 63 28 0 28 1.0 intronic rs4969107 SDK2 AU NM_001144952 exon4 c.12204+14A>G 0.859225 0.8859 0.887513 0.9561 0.8777 Uncertain 17_71357810_G->A 17 71357810 71357810 G A snp 5184.77 1/1 99 191 0 191 1.0 intronic rs2279732 SDK2 AU NM_001144952 exon7 c.23097-12G>A 0.311701 0.4216 0.296863 0.3828 0.4343 Uncertain 17_71358045_T->C 17 71358045 71358045 T C snp 1870.77 1/1 99 63 0 63 1.0 intronic rs11657033 SDK2 AU NM_001144952 exon7 c.23259+61T>C 0.800719 0.9772 Uncertain 17_71365314_A->G 17 71365314 71365314 A G snp 1703.77 1/1 99 65 0 65 1.0 intronic rs867998 SDK2 AU NM_001144952 exon9 c.30007+582A>G 0.739018 0.9077 0.7668 0.8877 Uncertain 17_71365461_T->A 17 71365461 71365461 T A snp 99.28 1/1 9 3 0 3 1.0 intronic rs868000 SDK2 AU NM_001144952 exon9 c.30007+729T>A 0.752596 0.9087 Uncertain 17_71380087_G->C 17 71380087 71380087 G C snp 2969.77 0/1 99 249 124 125 0.5 exonic rs2270716 SDK2 AU nonsynonymous SNV NM_001144952 exon33 c.C4633G p.L1545V 0.0397364 0.0873 0.031678 0.0489 0.0944 0.28 T 0.596 P -1.095 T 0.001 T 0.005 T Pathogenic 17_71382078_T->C 17 71382078 71382078 T C snp 775.77 0/1 99 73 38 35 0.48 intronic rs201358824 SDK2 AU NM_001144952 exon14 c.47331+22T>C 0.00119808 0.0022 0.0002 Uncertain 17_71382166_G->A 17 71382166 71382166 G A snp 363.77 0/1 99 25 10 15 0.6 intronic rs2270720 SDK2 AU NM_001144952 exon14 c.47331+110G>A 0.193291 0.2698 Uncertain 17_71382747_T->C 17 71382747 71382747 T C snp 2083.77 1/1 99 76 0 76 1.0 intronic rs7212508 SDK2 AU NM_001144952 exon15 c.47962+60T>C 0.994409 1 Uncertain 17_71386577_G->T 17 71386577 71386577 G T snp 2283.77 0/1 99 196 99 97 0.49 exonic rs61752521 SDK2 AU synonymous SNV NM_001144952 exon29 c.C4041A p.T1347T 0.238818 0.1925 0.2128 0.2080 Uncertain 17_71394066_C->G 17 71394066 71394066 C G snp 123.77 0/1 30 6 2 4 0.67 intronic rs7224026 SDK2 AU NM_001144952 exon22 c.59448-107C>G 0.484425 0.6389 Uncertain 17_71394443_G->A 17 71394443 71394443 G A snp 965.77 0/1 99 110 66 44 0.4 intronic rs2291847 SDK2 AU NM_001144952 exon23 c.59733-15G>A 0.0461262 0.0982 0.038136 0.0552 0.0911 Uncertain 17_71397085_C->A 17 71397085 71397085 C A snp 86.77 0/1 30 4 1 3 0.75 intronic rs7221062 SDK2 AU NM_001144952 exon25 c.62433-73C>A 0.433906 0.2421 Uncertain 17_71397366_G->A 17 71397366 71397366 G A snp 1102.77 0/1 99 104 56 48 0.46 intronic rs11653524 SDK2 AU NM_001144952 exon25 c.62625+16G>A 0.304712 0.4435 0.201073 0.3007 0.4660 Uncertain 17_71397375_T->G 17 71397375 71397375 T G snp 1350.77 0/1 99 99 45 54 0.55 intronic rs7226251 SDK2 AU NM_001144952 exon25 c.62625+25T>G 0.433706 0.245 0.613550 0.5572 0.2548 Uncertain 17_71398170_G->C 17 71398170 71398170 G C snp 2289.77 0/1 99 194 100 94 0.48 exonic rs9302962 SDK2 AU synonymous SNV NM_001144952 exon19 c.C2595G p.T865T 0.381989 0.2133 0.477011 0.3694 0.2149 Uncertain 17_71420371_G->A 17 71420371 71420371 G A snp 231.77 0/1 99 11 4 7 0.64 intronic rs141708953 SDK2 AU NM_001144952 exon33 c.85506+140G>A 0.00239617 0.006 Uncertain 17_71437093_G->A 17 71437093 71437093 G A snp 938.77 0/1 99 62 20 42 0.68 intronic rs118118340 SDK2 AU NM_001144952 exon40 c.102337+31G>A 0.0533147 0.1677 0.012046 0.0368 0.1332 Uncertain 17_71452208_C->T 17 71452208 71452208 C T snp 1791.77 0/1 99 172 90 82 0.48 intronic rs34494368 SDK2 AU NM_001144952 exon42 c.117467+16C>T 0.175719 0.1508 0.215506 0.2142 0.1555 Uncertain 17_71503828_A->G 17 71503828 71503828 A G snp 601.77 0/1 99 41 17 24 0.59 intronic rs9890342 SDK2 AU NM_001144952 exon44 c.169011+92A>G 0.034345 0.0456 Uncertain 17_72209858_A->G 17 72209858 72209858 A G snp 3389.77 1/1 99 130 0 130 1.0 splicing rs7206926 TTYH2 AU NM_032646 exon1 c.129+3A>G 0.797125 0.7262 0.785538 0.7422 0.7464 Pathogenic 17_72245987_CACTGTGGGGCTCCTGGGAGACGGAGCCT->- 17 72245987 72246015 CACTGTGGGGCTCCTGGGAGACGGAGCCT - indel 8001.73 1/1 78 26 0 26 1.0 intronic rs33961893 TTYH2 AU NM_032646 exon9 c.36348-87_36348-59delCACTGTGGGGCTCCTGGGAGACGGAGCCT 0.694688 0.6974 Uncertain 17_72277879_A->G 17 72277879 72277879 A G snp 425.77 0/1 99 27 9 18 0.67 intronic rs3803792 DNAI2 AU 0.479233 0.7758 0.4285 0.7801 Uncertain 17_72281367_A->G 17 72281367 72281367 A G snp 6900.77 1/1 99 234 0 234 1.0 intronic rs6501706 DNAI2 AU NM_001172810 exon3 c.3384+27A>G 0.961462 1 0.954175 0.9875 1 Uncertain 17_72285660_A->- 17 72285660 72285660 A - indel 131.73 0/1 39 14 3 11 0.79 intronic rs35604335 DNAI2 AU NM_001172810 exon5 c.7776-72delA Uncertain 17_72297104_C->T 17 72297104 72297104 C T snp 177.77 0/1 99 12 6 6 0.5 intronic rs34880269 DNAI2 AU NM_001172810 exon8 c.19228-80C>T 0.252196 0.1895 Uncertain 17_72297180_A->G 17 72297180 72297180 A G snp 462.77 0/1 99 47 27 20 0.43 splicing rs8076337 DNAI2 AU NM_001172810 exon8 c.19228-4A>G 0.261182 0.1915 0.345302 0.3474 0.2103 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000155524.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 17_72301432_A->G 17 72301432 72301432 A G snp 3680.77 0/1 99 250 112 138 0.55 exonic rs8073660 DNAI2 AU synonymous SNV NM_023036 exon9 c.A1062G p.E354E 0.398762 0.254 0.534523 0.5233 0.2567 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000150499.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 17_72303449_G->A 17 72303449 72303449 G A snp 1656.77 0/1 99 140 69 71 0.51 intronic rs11867486 DNAI2 AU NM_001172810 exon9 c.23625+1868G>A 0.345847 0.253 0.5446 0.2121 Uncertain 17_72305534_C->T 17 72305534 72305534 C T snp 2856.77 0/1 99 227 112 115 0.51 intronic rs2290955 DNAI2 AU NM_001172810 exon10 c.27571+7C>T 0.355431 0.25 0.493157 0.5274 0.2585 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000150500.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 17_72305688_T->C 17 72305688 72305688 T C snp 1319.77 0/1 99 78 29 49 0.63 intronic rs2290956 DNAI2 AU NM_001172810 exon10 c.27571+161T>C 0.407348 0.2639 0.5237 0.3132 Uncertain 17_72305753_C->T 17 72305753 72305753 C T snp 904.77 1/1 66 27 0 27 1.0 intronic rs2290957 DNAI2 AU NM_001172810 exon10 c.27571+226C>T 0.836062 0.9375 0.8925 0.9383 Uncertain 17_72305793_C->T 17 72305793 72305793 C T snp 239.77 0/1 99 15 5 10 0.67 intronic rs12051676 DNAI2 AU NM_001172810 exon10 c.27571+266C>T 0.509385 0.7381 Uncertain 17_72306117_CT->- 17 72306117 72306118 CT - indel 4014.73 1/1 99 87 0 87 1.0 intronic rs35732837 DNAI2 AU NM_023036 exon11 c.28199-38_28199-37delCT 0.757788 0.9306 0.768014 0.8746 0.9322 Uncertain 17_72308219_G->A 17 72308219 72308219 G A snp 199.77 0/1 99 21 10 11 0.52 exonic rs2279122 DNAI2 AU synonymous SNV NM_023036 exon12 c.G1572A p.K524K 0.00539137 0.0268 0.0025 0.0303 Uncertain 17_72308319_G->A 17 72308319 72308319 G A snp 789.77 1/1 57 27 0 27 1.0 exonic rs1979370 DNAI2 AU nonsynonymous SNV NM_023036 exon12 c.G1672A p.A558T 0.740815 0.8512 0.770260 0.8581 0.8515 0.59 T 0.0 P -0.996 T 0.002 T 0.0 T CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_multiple_submitters\x2c_no_conflicts;CLNACC=RCV000150502.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 17_72308403_G->A 17 72308403 72308403 G A snp 266.79 1/1 23 13 2 11 0.85 intronic rs4239008 DNAI2 AU NM_001172810 exon12 c.30413+34G>A 0.722644 0.8512 0.774338 0.8568 0.8769 Uncertain 17_72308410_C->T 17 72308410 72308410 C T snp 248.8 1/1 21 12 0 12 1.0 intronic rs4239009 DNAI2 AU NM_001172810 exon12 c.30413+41C>T 0.840655 0.8929 0.864626 0.9154 0.9244 Uncertain 17_72308447_G->A 17 72308447 72308447 G A snp 99.28 1/1 9 3 0 3 1.0 intronic rs1979371 DNAI2 AU NM_001172810 exon12 c.30413+78G>A 0.95647 1 Uncertain 17_72310476_G->A 17 72310476 72310476 G A snp 3010.77 1/1 99 96 0 96 1.0 intronic rs2054400 DNAI2 AU NM_001172810 exon13 c.32454+66G>A 0.870607 0.9792 Uncertain 17_72321928_T->C 17 72321928 72321928 T C snp 832.77 1/1 60 29 0 29 1.0 upstream rs7207519 KIF19 AU 0.903554 0.9633 Uncertain 17_72322881_G->A 17 72322881 72322881 G A snp 4443.77 1/1 99 152 1 151 0.99 intronic rs8082699 KIF19 AU NM_153209 exon1 c.39+354G>A 0.859824 0.9702 Uncertain 17_72332849_A->G 17 72332849 72332849 A G snp 1084.77 1/1 78 43 0 43 1.0 intronic rs1111596 KIF19 AU NM_153209 exon3 c.15526-5165A>G 0.916534 0.9683 Uncertain 17_72336957_T->G 17 72336957 72336957 T G snp 837.77 0/1 99 101 62 39 0.39 intronic rs9892531 KIF19 AU NM_153209 exon3 c.15526-1057T>G 0.124601 0.0714 Uncertain 17_72338165_C->- 17 72338165 72338165 C - indel 2798.73 1/1 99 83 0 83 1.0 intronic rs11285065 KIF19 AU NM_153209 exon3 c.15637+40delC 1 1 1.0000 1 Uncertain 17_72358170_G->A 17 72358170 72358170 G A snp 2854.77 0/1 99 249 126 123 0.49 upstream rs111792213 BTBD17 AU 0.0529153 0.0476 Uncertain 17_72358459_G->A 17 72358459 72358459 G A snp 104.77 0/1 99 15 10 5 0.33 upstream rs117268812 BTBD17 AU 0.0061901 0.0298 Uncertain 17_72366484_G->A 17 72366484 72366484 G A snp 40.77 0/1 69 5 3 2 0.4 intronic rs62063609 GPR142 AU NM_181790 exon3 c.3015-175G>A 0.179712 0.0754 Uncertain 17_72366695_C->A 17 72366695 72366695 C A snp 3036.77 1/1 99 106 0 106 1.0 exonic rs2382647 GPR142 AU nonsynonymous SNV NM_181790 exon3 c.C394A p.H132N 0.954473 1 0.960557 0.9822 0.9994 1 T 0.000 P -0.937 T 0.0 T 0.0 T Pathogenic 17_72368550_T->C 17 72368550 72368550 T C snp 2658.77 0/1 99 249 134 115 0.46 exonic rs11658891 GPR142 AU synonymous SNV NM_181790 exon4 c.T1200C p.N400N 0.595647 0.4067 0.641012 0.5901 0.3857 Uncertain 17_72369704_G->A 17 72369704 72369704 G A snp 214.77 0/1 99 19 10 9 0.47 downstream rs12451435 GPR142 AU 0.386581 0.5903 Uncertain 17_72429954_A->G 17 72429954 72429954 A G snp 1356.77 0/1 99 114 56 58 0.51 intronic rs116300127 GPRC5C AU NM_018653 exon1 c.4+58A>G 0.0315495 0.0823 0.010512 Uncertain 17_72439700_T->G 17 72439700 72439700 T G snp 2028.77 1/1 99 76 0 76 1.0 intronic rs9893663 GPRC5C AU NM_018653 exon3 c.10064-256T>G 0.972644 1 0.9291 1 Uncertain 17_72439809_G->- 17 72439809 72439809 G - indel 1655.73 0/1 99 111 61 50 0.45 intronic rs3840056 GPRC5C AU NM_018653 exon3 c.10064-147delG 0.580072 0.7708 0.7237 0.7996 Uncertain 17_72443192_G->T 17 72443192 72443192 G T snp 1528.77 0/1 99 141 79 62 0.44 UTR3 rs2706527 GPRC5C AU 0.83127 0.8542 0.8717 0.8400 Uncertain 17_72443287_C->G 17 72443287 72443287 C G snp 121.77 0/1 99 19 13 6 0.32 UTR3 rs6980 GPRC5C AU 0.839856 0.8552 Uncertain 17_72469958_A->G 17 72469958 72469958 A G snp 1491.77 0/1 99 193 123 70 0.36 exonic rs1127737 CD300A AU synonymous SNV NM_007261 exon2 c.A324G p.P108P 0.687101 0.7212 0.587037 0.5384 0.7228 Uncertain 17_72469966_G->A 17 72469966 72469966 G A snp 1460.77 0/1 99 189 122 67 0.35 exonic rs2272111 CD300A AU nonsynonymous SNV NM_007261 exon2 c.G332A p.R111Q 0.345647 0.1964 0.347839 0.2451 0.2150 0.63 T 0.000 P -1.058 T 0.013 T 0.015 T Pathogenic 17_72473553_T->C 17 72473553 72473553 T C snp 482.77 0/1 99 41 22 19 0.46 intronic rs7209406 CD300A AU NM_001256841 exon3 c.10732-21T>C 0.711661 0.8095 0.587344 0.5471 0.8170 Uncertain 17_72473774_C->A 17 72473774 72473774 C A snp 373.77 1/1 30 10 0 10 1.0 intronic rs7224429 CD300A AU NM_001256841 exon3 c.10827+105C>A 0.984625 0.998 Uncertain 17_72477385_A->G 17 72477385 72477385 A G snp 1532.77 0/1 99 151 88 63 0.42 intronic rs1879967 CD300A AU NM_001256841 exon4 c.14585-42A>G 0.69369 0.8085 0.564662 0.5279 0.8045 Uncertain 17_72478025_C->G 17 72478025 72478025 C G snp 235.77 0/1 99 29 17 12 0.41 intronic rs79524136 CD300A AU NM_001256841 exon5 c.15130+53C>G 0.0621006 0.0754 Uncertain 17_72480270_T->C 17 72480270 72480270 T C snp 686.77 0/1 99 60 28 32 0.53 UTR3 rs143465736 CD300A AU 0.00159744 0.0069 0.000077 0.0010 0.0091 Uncertain 17_72519798_C->T 17 72519798 72519798 C T snp 850.77 0/1 99 79 40 39 0.49 intronic rs1472726 CD300LB AU NM_174892 exon2 c.914+8C>T 0.448083 0.2302 0.545748 0.5141 0.2272 Uncertain 17_72521897_G->A 17 72521897 72521897 G A snp 1575.77 0/1 99 147 79 68 0.46 exonic rs17553512 CD300LB AU synonymous SNV NM_174892 exon2 c.C360T p.I120I 0.30631 0.2242 0.403275 0.4531 0.2206 Uncertain 17_72527718_A->G 17 72527718 72527718 A G snp 1177.77 0/1 99 80 35 45 0.56 upstream rs965229 CD300LB AU 0.733427 0.5675 Uncertain 17_72537894_A->G 17 72537894 72537894 A G snp 1375.77 0/1 99 102 50 52 0.51 intronic rs2140253 CD300C AU NM_006678 exon1 c.148+19A>G 0.536342 0.2639 0.587294 0.5316 0.3008 Uncertain 17_72538917_A->G 17 72538917 72538917 A G snp 77.77 0/1 99 7 4 3 0.43 intronic rs7215669 CD300C AU NM_006678 exon2 c.1272-82A>G 0.283147 0.2579 Uncertain 17_72541713_A->G 17 72541713 72541713 A G snp 46.77 0/1 33 3 1 2 0.67 intronic rs1719493 CD300C AU NM_006678 exon4 c.4133-147A>G 0.631589 0.5823 Uncertain 17_72541838_A->G 17 72541838 72541838 A G snp 941.77 0/1 99 74 33 41 0.55 intronic rs809740 CD300C AU NM_006678 exon4 c.4133-22A>G 0.723842 0.5823 0.746460 0.7014 0.5928 Uncertain 17_72541980_A->G 17 72541980 72541980 A G snp 1245.77 0/1 99 128 71 57 0.45 UTR5 rs783230 CD300C AU 0.725839 0.5823 0.729742 Uncertain 17_72588217_C->T 17 72588217 72588217 C T snp 1859.77 0/1 99 168 81 87 0.52 exonic rs68124408 C17orf77 AU nonsynonymous SNV NM_001302809 exon3 c.C32T p.T11I 0.0523163 0.0923 0.035830 0.0198 0.0803 0 D 1 N -1.097 T 0.946 T 0.271 D Pathogenic 17_72588326_A->C 17 72588326 72588326 A C snp 1932.77 0/1 99 190 113 77 0.41 exonic rs493430 C17orf77 AU nonsynonymous SNV NM_001115152 exon1 c.T16G p.S6A 0.674321 0.5714 0.715055 0.6633 0.5230 1 T 0.0 P -1.010 T 0.0 T 0.0 T Pathogenic 17_72608834_G->A 17 72608834 72608834 G A snp 1463.77 0/1 99 136 69 67 0.49 exonic rs579238 CD300E AU synonymous SNV NM_181449 exon4 c.C576T p.V192V 0.263379 0.1042 0.304936 0.2802 0.1077 Uncertain 17_72608926_G->A 17 72608926 72608926 G A snp 1474.77 0/1 99 157 84 73 0.46 intronic rs509574 CD300E AU NM_181449 exon1 c.121+14G>A 0.203874 0.0863 0.253883 0.2598 0.0916 Uncertain 17_72610089_C->T 17 72610089 72610089 C T snp 4254.77 1/1 99 165 0 165 1.0 exonic rs1878061 CD300E AU nonsynonymous SNV NM_181449 exon3 c.G472A p.G158R 0.220048 0.0794 0.319237 0.3321 0.0833 0.51 T 0.0 P -0.883 T 0.84 T 0.166 P Pathogenic 17_72691928_T->C 17 72691928 72691928 T C snp 1165.77 0/1 99 99 50 49 0.49 exonic rs2034310 CD300LF AU nonsynonymous SNV NM_139018 exon6 c.A653G p.Q218R 0.705072 0.6647 0.755882 0.7736 0.6726 0.78 T 0.0 P -1.005 T 0.001 T 0.001 T Pathogenic 17_72700943_A->G 17 72700943 72700943 A G snp 6823.77 1/1 99 240 0 240 1.0 exonic rs35489971 CD300LF AU nonsynonymous SNV NM_139018 exon2 c.T56C p.V19A 0.609026 0.7351 0.658312 0.7295 0.7437 1 T 0.0 P -0.996 T 0.003 T 0.006 T Pathogenic 17_72709195_T->C 17 72709195 72709195 T C snp 272.77 0/1 99 19 7 12 0.63 intronic rs67406906 RAB37 AU NM_175738 exon2 c.57669-16199T>C 0.204273 0.3274 Uncertain 17_72709210_C->T 17 72709210 72709210 C T snp 197.77 0/1 99 15 6 9 0.6 intronic rs71380839 RAB37 AU NM_175738 exon2 c.57669-16184C>T 0.181709 0.3075 Uncertain 17_72733082_C->T 17 72733082 72733082 C T snp 730.77 0/1 99 48 19 29 0.6 UTR5 rs117125167 RAB37 AU 0.0507188 0.1716 Uncertain 17_72736755_A->G 17 72736755 72736755 A G snp 871.77 1/1 66 23 0 23 1.0 intronic rs11651291 RAB37 AU NM_001163989 exon2 c.3758-151A>G 0.989217 1 Uncertain 17_72740598_G->A 17 72740598 72740598 G A snp 1586.77 0/1 99 231 153 78 0.34 intronic rs12601879 RAB37 AU NM_175738 exon6 c.72787+86G>A 0.0539137 0.2103 0.0328 0.2729 0.000 P -1.008 T 0.001 T 0.002 T Uncertain 17_72744798_G->C 17 72744798 72744798 G C snp 2734.77 1/1 99 108 0 108 1.0 ncRNA_exonic rs745666 MIR3615 AU 0.409744 0.4038 0.5563 0.625 Uncertain 17_72762901_A->T 17 72762901 72762901 A T snp 199.77 0/1 63 11 3 8 0.73 intronic rs4788849 SLC9A3R1 AD NM_004252 exon4 c.18089-173A>T 0.304912 0.2698 Uncertain 17_72768970_G->A 17 72768970 72768970 G A snp 356.77 0/1 99 28 15 13 0.46 intronic rs2305214 NAT9 AU NM_001305077 exon4 c.1172-64G>A 0.291733 0.2589 Uncertain 17_72769694_A->G 17 72769694 72769694 A G snp 796.77 0/1 99 89 50 39 0.44 intronic rs878907 NAT9 AU NM_001305077 exon5 c.1852-20A>G 0.460064 0.2897 0.495848 0.5028 0.3171 Uncertain 17_72771637_C->T 17 72771637 72771637 C T snp 486.77 0/1 99 36 19 17 0.47 intronic rs750018 NAT9 AU NM_001305087 exon5 c.3793-100C>T 0.3125 0.2688 Uncertain 17_72773387_G->A 17 72773387 72773387 G A snp 306.77 0/1 99 20 9 11 0.55 intronic rs8074137 TMEM104 AU 0.424521 0.3085 Uncertain 17_72773794_C->A 17 72773794 72773794 C A snp 1191.77 0/1 99 95 44 51 0.54 intronic rs9910691 TMEM104 AU NM_017728 exon2 c.45+280C>A 0.528155 0.3165 0.5600 0.3636 Uncertain 17_72781812_G->A 17 72781812 72781812 G A snp 316.78 1/1 24 11 0 11 1.0 intronic rs2166703 TMEM104 AU NM_017728 exon3 c.8273+70G>A 0.531949 0.3423 Uncertain 17_72784932_G->A 17 72784932 72784932 G A snp 3094.77 0/1 99 249 123 126 0.51 exonic rs2016126 TMEM104 AU nonsynonymous SNV NM_017728 exon4 c.G172A p.V58M 0.546326 0.3968 0.643088 0.5845 0.4083 0.47 T 0.973 P -0.959 T 0.76 T 0.074 P Pathogenic 17_72791088_-->G 17 72791088 72791088 - G indel 1649.73 1/1 99 41 0 41 1.0 intronic rs3830567 TMEM104 AU NM_017728 exon7 c.17681-62insG 0.633187 0.63 Uncertain 17_72791266_G->A 17 72791266 72791266 G A snp 1474.77 1/1 99 46 0 46 1.0 intronic rs9910463 TMEM104 AU NM_017728 exon7 c.17781+16G>A 0.70607 0.9752 0.660695 0.7980 0.9910 Uncertain 17_72791618_A->G 17 72791618 72791618 A G snp 933.77 0/1 99 81 43 38 0.47 intronic rs7221435 TMEM104 AU NM_017728 exon8 c.18193-44A>G 0.788738 0.744 0.825863 0.8574 0.7785 Uncertain 17_72832032_C->G 17 72832032 72832032 C G snp 652.77 0/1 99 33 12 21 0.64 intronic rs72851753 TMEM104 AU NM_017728 exon10 c.58596-33C>G 0.263978 0.379 0.259034 0.2765 0.4209 Uncertain 17_72832928_G->A 17 72832928 72832928 G A snp 960.77 0/1 99 53 20 33 0.62 UTR3 rs11558036 TMEM104 AU 0.215256 0.376 Uncertain 17_72832982_-->C 17 72832982 72832982 - C indel 172.73 0/1 86 11 3 8 0.73 UTR3 rs11389066 TMEM104 AU 0.305312 0.3978 Uncertain 17_72834954_C->A 17 72834954 72834954 C A snp 474.77 0/1 99 34 17 17 0.5 UTR3 rs3826320 TMEM104 AU 0.305511 0.4008 Uncertain 17_72838481_C->T 17 72838481 72838481 C T snp 549.77 1/1 42 14 0 14 1.0 UTR3 rs939536 GRIN2C AU 1 1 Uncertain 17_72838649_C->A 17 72838649 72838649 C A snp 2603.77 0/1 99 218 104 114 0.52 exonic rs3744215 GRIN2C AU nonsynonymous SNV NM_000835 exon13 c.G3627T p.R1209S 0.289537 0.381 0.291462 0.2987 0.4342 0.04 T 1.000 P -0.907 T 0.001 T 0.001 T Pathogenic 17_72839130_-->GCTCCGGGG 17 72839130 72839130 - GCTCCGGGG indel 3205.73 1/1 87 32 0 32 1.0 exonic rs139495021 GRIN2C AU nonframeshift insertion NM_000835 exon13 c.3145_3146insCCCCGGAGC p.L1049delinsPPEL 0.796326 0.7391 0.829135 0.7857 0.2857 Uncertain 17_72843378_C->T 17 72843378 72843378 C T snp 565.77 0/1 99 47 22 25 0.53 intronic rs3826314 GRIN2C AU NM_000835 exon5 c.4873-68C>T 0.305911 0.379 Uncertain 17_72843412_C->- 17 72843412 72843412 C - indel 308.73 0/1 99 46 26 20 0.43 intronic rs3833106 GRIN2C AU NM_000835 exon5 c.4873-34delC 0.309904 0.3948 0.3611 0.4911 Uncertain 17_72843923_G->A 17 72843923 72843923 G A snp 128.77 0/1 99 20 14 6 0.3 intronic rs3744192 GRIN2C AU NM_000835 exon6 c.5417-67G>A 0.21266 0.379 Uncertain 17_72844165_C->T 17 72844165 72844165 C T snp 1054.77 0/1 99 108 61 47 0.44 intronic rs3744193 GRIN2C AU NM_000835 exon6 c.5543+49C>T 0.273363 0.379 0.275950 0.2759 0.4189 Uncertain 17_72847548_G->T 17 72847548 72847548 G T snp 284.77 0/1 99 24 13 11 0.46 intronic rs3744194 GRIN2C AU NM_000835 exon10 c.9142-167G>T 0.273363 0.379 Uncertain 17_72848758_-->G 17 72848758 72848758 - G indel 4187.73 1/1 99 119 0 119 1.0 intronic rs75018418 GRIN2C AU NM_000835 exon11 c.10177+8insG 0.998003 1 0.997953 1 1 Uncertain 17_72848772_-->C 17 72848772 72848772 - C indel 3365.73 1/1 99 86 0 86 1.0 intronic rs112724484 GRIN2C AU NM_000835 exon11 c.10177+22insC 0.998403 1 0.996333 0 . Uncertain 17_72848778_-->G 17 72848778 72848778 - G indel 2399.73 1/1 99 74 0 74 1.0 intronic rs201209302 GRIN2C AU NM_000835 exon11 c.10177+28insG 1 1 0 . Uncertain 17_72848800_C->G 17 72848800 72848800 C G snp 805.77 0/1 99 49 22 27 0.55 intronic rs117147802 GRIN2C AU NM_000835 exon11 c.10177+50C>G 0.291733 0.3819 0 . Uncertain 17_72848828_A->G 17 72848828 72848828 A G snp 486.77 0/1 99 26 10 16 0.62 intronic rs116833065 GRIN2C AU NM_000835 exon11 c.10177+78A>G 0.282348 0.3859 Uncertain 17_72851133_A->G 17 72851133 72851133 A G snp 1730.77 1/1 99 65 0 65 1.0 exonic rs689730 GRIN2C AU synonymous SNV NM_000835 exon2 c.T99C p.A33A 0.795927 0.7341 0.876270 0.8568 0.7401 Uncertain 17_72859078_A->G 17 72859078 72859078 A G snp 2254.77 0/1 99 187 92 95 0.51 intronic rs690371 FDXR AU NM_001258015 exon1 c.131+9A>G 0.297724 0.4732 0.263571 0.2694 0.5017 Uncertain 17_72860253_A->G 17 72860253 72860253 A G snp 1809.77 0/1 99 173 99 74 0.43 intronic rs552432 FDXR AU NM_001258015 exon4 c.1331-16A>G 0.286941 0.4673 0.262033 0.2657 0.5015 0.000 P -0.923 T Uncertain 17_72861974_G->A 17 72861974 72861974 G A snp 515.77 0/1 99 52 31 21 0.4 intronic rs2467577 FDXR AU NM_001258015 exon7 c.3004+32G>A 0.184105 0.379 0.162744 0.2236 0.4332 Uncertain 17_72861991_C->T 17 72861991 72861991 C T snp 486.77 0/1 99 52 30 22 0.42 intronic rs2070919 FDXR AU NM_001258015 exon7 c.3004+49C>T 0.184105 0.379 0.163025 0.2114 0.4206 Uncertain 17_72862155_T->G 17 72862155 72862155 T G snp 191.77 0/1 99 11 4 7 0.64 intronic rs516035 FDXR AU NM_001258015 exon8 c.3314-97T>G 0.189297 0.375 Uncertain 17_72862593_C->T 17 72862593 72862593 C T snp 1169.77 0/1 99 88 42 46 0.52 exonic rs690514 FDXR AU nonsynonymous SNV NM_001258016 exon3 c.G212A p.R71Q 0.185104 0.378 0.167795 0.2103 0.4153 0.31 T 0.999 P -0.966 T 0.062 T 0.02 T Pathogenic 17_72862705_G->A 17 72862705 72862705 G A snp 1426.77 0/1 99 135 67 68 0.5 intronic rs2070918 FDXR AU NM_001258013 exon9 c.3752+15G>A 0.449481 0.2589 0.573769 0.5912 0.2413 Uncertain 17_72862809_T->C 17 72862809 72862809 T C snp 742.77 0/1 99 57 31 26 0.46 intronic rs509911 FDXR AU NM_001258015 exon9 c.3967-96T>C 0.187101 0.38 Uncertain 17_72863030_T->C 17 72863030 72863030 T C snp 1313.77 0/1 99 96 42 54 0.56 exonic rs1688149 FDXR AU nonsynonymous SNV NM_001258012 exon3 c.A275G p.D92G 0.1875 0.38 0.168308 0.2555 0.4604 0.0 P -0.904 T 0.0 T 0.0 T Pathogenic 17_72863278_A->G 17 72863278 72863278 A G snp 123.78 0/1 25 5 1 4 0.8 intronic rs2460857 FDXR AU NM_001258012 exon10 c.4189+151A>G 0.1873 0.379 Uncertain 17_72864407_C->T 17 72864407 72864407 C T snp 102.77 0/1 99 10 6 4 0.4 intronic rs563297 FDXR AU NM_001258016 exon11 c.5729-260C>T 0.183706 0.377 Uncertain 17_72864768_A->G 17 72864768 72864768 A G snp 1617.77 0/1 99 105 43 62 0.59 UTR5 rs560323 FDXR AU 0.188299 0.3958 Uncertain 17_72869078_A->G 17 72869078 72869078 A G snp 457.77 0/1 99 38 18 20 0.53 UTR5 rs492095 FDXR AU 0.19988 0.374 0.157019 0.2672 0.4274 Uncertain 17_72877271_C->G 17 72877271 72877271 C G snp 898.77 0/1 99 72 31 41 0.57 exonic FADS6 AU nonsynonymous SNV NM_178128 exon4 c.G653C p.S218T 0.48 T 1 N -0.997 T 0.003 T 0.005 T Pathogenic 17_72888542_C->- 17 72888542 72888542 C - indel 293.74 1/1 27 9 0 9 1.0 intronic rs10715050 FADS6 AU NM_178128 exon5 c.14190-107delC Uncertain 17_72888836_G->A 17 72888836 72888836 G A snp 4086.77 1/1 99 147 0 147 1.0 intronic rs489152 FADS6 AU NM_178128 exon5 c.14357+20G>A 0.878395 0.9187 0.895440 0.9308 0.9361 Uncertain 17_72889031_C->A 17 72889031 72889031 C A snp 44.74 1/1 6 2 0 2 1.0 intronic rs490985 FADS6 AU NM_178128 exon5 c.14357+215C>A 0.204473 0.3512 Uncertain 17_72889676_G->C 17 72889676 72889676 G C snp 1125.77 0/1 99 177 104 73 0.41 exonic rs4319809 FADS6 AU synonymous SNV NM_178128 exon1 c.C18G p.P6P Uncertain 17_72889685_G->A 17 72889685 72889685 G A snp 1573.77 0/1 99 172 76 96 0.56 exonic rs2683274 FADS6 AU synonymous SNV NM_178128 exon1 c.C9T p.P3P 0.4994 0.4869 Uncertain 17_72927123_G->T 17 72927123 72927123 G T snp 2161.77 0/1 99 212 118 94 0.44 exonic rs6501741 OTOP2 AU nonsynonymous SNV NM_178160 exon6 c.G1393T p.G465W 0.544728 0.5645 0.534907 0.6390 0.5588 0.03 T 0.0 P -0.966 T 0.993 D 0.663 D Pathogenic 17_72929380_G->C 17 72929380 72929380 G C snp 515.77 0/1 99 30 14 16 0.53 intronic rs2035835 OTOP2 AU NM_178160 exon7 c.8742-89G>C 0.769768 0.6329 Uncertain 17_72937605_G->A 17 72937605 72937605 G A snp 4536.77 1/1 99 161 0 161 1.0 exonic rs7210616 OTOP3 AU nonsynonymous SNV NM_001272005 exon2 c.G137A p.R46Q 0.5627 0.5665 0.614165 0.6686 0.5918 0.32 T 0.0 P -0.988 T 0.008 T 0.001 T Pathogenic 17_72937851_G->A 17 72937851 72937851 G A snp 2292.77 0/1 99 199 95 104 0.52 exonic rs9890664 OTOP3 AU nonsynonymous SNV NM_001272005 exon2 c.G383A p.R128Q 0.653754 0.7341 0.631862 0.6817 0.7003 0.53 T 0.0 P -1.005 T 0.0 T 0.001 T Pathogenic 17_72938100_T->C 17 72938100 72938100 T C snp 4582.77 1/1 99 172 0 172 1.0 exonic rs1542752 OTOP3 AU nonsynonymous SNV NM_001272005 exon3 c.T541C p.S181P 0.90615 0.9603 0.866831 0.8660 0.9517 1 T 0.000 P -1.015 T 0.0 T 0.0 T Pathogenic 17_72939446_C->T 17 72939446 72939446 C T snp 2539.77 0/1 99 233 119 114 0.49 intronic rs4789110 OTOP3 AU NM_178233 exon4 c.7543+7C>T 0.541334 0.4911 0.546748 0.5693 0.4713 Uncertain 17_72939663_G->A 17 72939663 72939663 G A snp 977.77 0/1 99 56 20 36 0.64 intronic rs8069015 OTOP3 AU NM_178233 exon5 c.7804-37G>A 0.526558 0.4911 0.527910 0.5637 0.4648 Uncertain 17_72939855_AC->- 17 72939855 72939856 AC - indel 399.73 0/1 99 45 14 31 0.69 intronic rs35254855 OTOP3 AU NM_178233 exon5 c.7923+36_7923+37delAC 0.3089 0.4050 Uncertain 17_72943126_G->A 17 72943126 72943126 G A snp 1851.77 0/1 99 168 89 79 0.47 exonic rs8066909 OTOP3 AU synonymous SNV NM_001272005 exon6 c.G1122A p.A374A 0.290735 0.0655 0.4232 0.0807 Uncertain 17_72948369_A->G 17 72948369 72948369 A G snp 2130.77 1/1 99 80 0 80 1.0 exonic rs17853024 HID1 AU synonymous SNV NM_030630 exon17 c.T2139C p.I713I 0.954872 1 0.940787 0.9533 0.9998 Uncertain 17_72949167_T->C 17 72949167 72949167 T C snp 929.77 0/1 99 62 24 38 0.61 exonic rs2307011 HID1 AU synonymous SNV NM_030630 exon16 c.A1986G p.A662A 0.226837 0.505 0.100385 0.1394 0.5187 Uncertain 17_72949649_C->T 17 72949649 72949649 C T snp 1256.77 0/1 99 110 58 52 0.47 exonic rs2087718 HID1 AU synonymous SNV NM_030630 exon15 c.G1962A p.P654P 0.145367 0.503 0.018761 0.0873 0.4914 Uncertain 17_72950472_G->A 17 72950472 72950472 G A snp 955.77 0/1 99 101 58 43 0.43 intronic rs3816876 HID1 AU NM_030630 exon6 c.2796+12G>A 0.155152 0.502 0.026013 0.1026 0.5387 Uncertain 17_72951823_C->T 17 72951823 72951823 C T snp 1687.77 1/1 99 60 0 60 1.0 intronic rs9899490 HID1 AU NM_030630 exon7 c.4222-63C>T 0.964657 1 Uncertain 17_72951845_G->A 17 72951845 72951845 G A snp 942.77 0/1 99 85 40 45 0.53 intronic rs9903414 HID1 AU NM_030630 exon7 c.4222-41G>A 0.670327 0.4901 0.780529 0.8324 0.5201 Uncertain 17_72952017_A->G 17 72952017 72952017 A G snp 1362.77 1/1 96 51 0 51 1.0 exonic rs9906160 HID1 AU synonymous SNV NM_030630 exon13 c.T1506C p.T502T 0.920727 1 0.906505 0.9453 0.9990 Uncertain 17_72955227_C->G 17 72955227 72955227 C G snp 250.84 0/1 18 12 1 11 0.92 intronic rs902727 HID1 AU NM_030630 exon11 c.7482+81C>G 0.681709 0.9385 Uncertain 17_72956124_G->A 17 72956124 72956124 G A snp 2641.77 0/1 99 227 118 109 0.48 exonic rs3744198 HID1 AU synonymous SNV NM_030630 exon7 c.C948T p.A316A 0.244209 0.0615 0.394356 0.3712 0.0593 Uncertain 17_72956399_C->A 17 72956399 72956399 C A snp 74.77 0/1 99 8 5 3 0.38 intronic rs3744199 HID1 AU NM_030630 exon13 c.8679+56C>A 0.339657 0.754 Uncertain 17_72957963_T->- 17 72957963 72957963 T - indel 1924.73 0/1 99 111 55 56 0.5 splicing rs10719287 HID1 AU NM_030630 exon14 c.10303-4delT 0.688299 0.9375 0.524042 0.5797 0.9405 Pathogenic 17_72995377_C->A 17 72995377 72995377 C A snp 175.9 1/1 15 5 0 5 1.0 intronic rs4789124 CDR2L AU NM_014603 exon2 c.11460-221C>A 0.919129 1 Uncertain 17_72995412_G->C 17 72995412 72995412 G C snp 584.77 1/1 45 18 0 18 1.0 intronic rs4789125 CDR2L AU NM_014603 exon2 c.11460-186G>C 0.557708 0.7649 Uncertain 17_72995420_-->ACACAA 17 72995420 72995420 - ACACAA indel 602.73 0/1 99 22 9 13 0.59 intronic rs368672422 CDR2L AU NM_014603 exon2 c.11460-178insACACAA Uncertain 17_72997648_G->A 17 72997648 72997648 G A snp 266.77 0/1 99 17 7 10 0.59 intronic rs3765123 CDR2L AU NM_014603 exon3 c.13446+64G>A 0.173123 0.5208 Uncertain 17_73038746_T->C 17 73038746 73038746 T C snp 1035.77 1/1 75 42 0 42 1.0 UTR5 rs9660 ATP5H AU 0.368211 0.5585 0.280255 0.2184 0.5621 Uncertain 17_73049228_G->A 17 73049228 73049228 G A snp 2608.77 1/1 99 84 0 84 1.0 intronic rs60660596 KCTD2 AU NM_015353 exon3 c.5855+28G>A 0.210863 0.6002 0.069506 0.1326 0.6245 Uncertain 17_73089852_T->C 17 73089852 73089852 T C snp 2776.77 0/1 99 250 141 109 0.44 exonic rs4788863 SLC16A5 AU synonymous SNV NM_001271765 exon3 c.T121C p.L41L 0.625399 0.3442 0.730432 0.6986 0.3527 Uncertain 17_73094073_CTC->- 17 73094073 73094075 CTC - indel 271.73 0/1 99 11 5 6 0.55 intronic rs10598249 SLC16A5 AU NM_004695 exon4 c.4401-59_4401-57delCTC 0.35004 0.1865 Uncertain 17_73096951_A->G 17 73096951 73096951 A G snp 1050.77 1/1 78 32 0 32 1.0 intronic rs4238978 SLC16A5 AU NM_004695 exon5 c.7180+40A>G 0.491014 0.7619 0.431064 0.5123 0.7579 Uncertain 17_73110144_G->T 17 73110144 73110144 G T snp 410.77 0/1 99 38 21 17 0.45 intronic rs1531565 ARMC7 AU NM_001304273 exon3 c.3880-119G>T 0.49361 0.4216 Uncertain 17_73110279_C->T 17 73110279 73110279 C T snp 990.77 0/1 99 89 42 47 0.53 UTR3 rs1531564 ARMC7 AU 0.523762 0.4236 0.5889 0.4242 Uncertain 17_73126747_T->- 17 73126747 73126747 T - indel 9301.73 1/1 99 210 0 210 1.0 intronic rs10715821 NT5C AU NM_014595 exon1 c.155+10delT 0.921326 1 0.910942 0.9753 1 Uncertain 17_73127024_C->G 17 73127024 73127024 C G snp 2999.77 1/1 99 97 0 97 1.0 intronic rs9910084 NT5C AU NM_014595 exon2 c.380+62C>G 0.978834 1 Uncertain 17_73127035_G->A 17 73127035 73127035 G A snp 1063.77 0/1 99 90 47 43 0.48 intronic rs138058467 NT5C AU NM_014595 exon2 c.380+73G>A 0.00938498 0.0446 Uncertain 17_73127217_G->C 17 73127217 73127217 G C snp 2778.77 1/1 99 92 0 92 1.0 intronic rs3736075 NT5C AU NM_001252377 exon2 c.618+17G>C 0.331869 0.6538 0.249692 0.3168 0.6626 Uncertain 17_73138751_G->A 17 73138751 73138751 G A snp 419.77 1/1 33 14 2 12 0.86 intronic rs111454348 HN1 AU NM_001288611 exon2 c.10454-4005G>A 0.464457 0.7153 Uncertain 17_73143574_T->A 17 73143574 73143574 T A snp 392.77 1/1 30 12 0 12 1.0 intronic rs1382508 HN1 AU NM_001002032 exon2 c.11554-76T>A 0.957867 0.9881 Uncertain 17_73177444_C->A 17 73177444 73177444 C A snp 767.77 1/1 57 25 0 25 1.0 intronic rs1471453 SUMO2 AU NM_006937 exon3 c.12850+161C>A 0.983227 1 Uncertain 17_73204530_T->C 17 73204530 73204530 T C snp 90.28 1/1 9 3 0 3 1.0 intronic rs899326 NUP85 AU NM_024844 exon2 c.2765-91T>C 0.733626 0.8343 Uncertain 17_73208182_C->T 17 73208182 73208182 C T snp 4258.77 1/1 99 139 0 139 1.0 intronic rs12946479 NUP85 AU NM_001303276 exon3 c.2229+25C>T 0.663139 0.8373 0.6910 0.8027 Uncertain 17_73208205_-->TGTT 17 73208205 73208205 - TGTT indel 4945.73 1/1 99 78 1 77 0.99 intronic rs56406015 NUP85 AU NM_001303276 exon3 c.2229+48insTGTT 0.364816 0.4534 0.5166 0.5658 Uncertain 17_73208206_G->T 17 73208206 73208206 G T snp 31.77 0/1 60 67 60 7 0.1 intronic rs766371023 NUP85 AU NM_001303276 exon3 c.2229+49G>T 0.0478 0.0526 Uncertain 17_73211584_A->C 17 73211584 73211584 A C snp 96.28 1/1 9 3 0 3 1.0 intronic rs12453288 NUP85 AU NM_001303276 exon5 c.5920-264A>C 0.865815 0.9018 Uncertain 17_73211585_A->G 17 73211585 73211585 A G snp 99.28 1/1 9 3 0 3 1.0 intronic rs12453289 NUP85 AU NM_001303276 exon5 c.5920-263A>G 0.865815 0.9018 Uncertain 17_73211642_A->G 17 73211642 73211642 A G snp 1232.77 1/1 90 37 0 37 1.0 intronic rs9909306 NUP85 AU NM_001303276 exon5 c.5920-206A>G 0.771166 0.8383 Uncertain 17_73221439_C->T 17 73221439 73221439 C T snp 5771.77 1/1 99 204 0 204 1.0 exonic rs2291029 NUP85 AU synonymous SNV NM_001303276 exon8 c.C597T p.P199P 0.86901 0.9018 0.912886 0.9558 0.9340 Uncertain 17_73222847_C->T 17 73222847 73222847 C T snp 3772.77 1/1 99 131 0 131 1.0 intronic rs1551967 NUP85 AU NM_001303276 exon10 c.16324+595C>T 0.980032 1 0.9991 1 0.08 T 0.0 P -1.049 T Uncertain 17_73222865_G->A 17 73222865 73222865 G A snp 3816.77 1/1 99 146 1 145 0.99 intronic rs1478785 NUP85 AU NM_001303276 exon10 c.16324+613G>A 0.593251 0.8343 0.7838 0.8939 Uncertain 17_73228101_T->C 17 73228101 73228101 T C snp 2145.77 1/1 99 66 0 66 1.0 intronic rs899318 NUP85 AU NM_001303276 exon13 c.22146+27T>C 0.980431 1 0.978702 0.9938 0.9999 Uncertain 17_73230856_C->T 17 73230856 73230856 C T snp 6787.77 1/1 99 248 0 248 1.0 exonic rs9988 NUP85 AU synonymous SNV NM_001303276 exon16 c.C1602T p.D534D 0.883986 0.9306 0.835922 0.8600 0.9416 Uncertain 17_73231818_T->- 17 73231818 73231818 T - indel 2918.73 1/1 99 97 0 97 1.0 UTR3 rs3841603 NUP85 AU 0.885583 0.9296 0.837360 0.8612 0.9432 Uncertain 17_73236605_C->A 17 73236605 73236605 C A snp 267.8 1/1 21 8 0 8 1.0 intronic rs11077781 GGA3 AU NM_001172703 exon6 c.2134+112C>A 0.885184 0.9315 Uncertain 17_73240559_A->G 17 73240559 73240559 A G snp 711.77 1/1 54 18 0 18 1.0 intronic rs2306216 GGA3 AU NM_001172703 exon14 c.6340-140A>G 0.884185 0.9306 0.8612 0.9425 Uncertain 17_73240836_T->C 17 73240836 73240836 T C snp 1781.77 1/1 99 63 0 63 1.0 intronic rs4789156 GGA3 AU NM_001172703 exon14 c.6439+38T>C 0.982029 1 0.979779 0.9941 1 Uncertain 17_73242895_A->G 17 73242895 73242895 A G snp 4789.77 1/1 99 175 0 175 1.0 intronic rs2242230 GGA3 AU NM_001172703 exon16 c.8518+18A>G 0.709864 0.8304 0.705444 0.8033 0.8758 Uncertain 17_73242935_A->G 17 73242935 73242935 A G snp 3165.77 1/1 99 104 1 103 0.99 intronic rs2242231 GGA3 AU NM_001172703 exon16 c.8518+58A>G 0.721446 0.8304 0.724266 Uncertain 17_73257830_C->T 17 73257830 73257830 C T snp 3292.77 1/1 99 116 0 116 1.0 UTR5 rs2279161 MRPS7 AU 0.834465 0.9266 Uncertain 17_73257986_C->T 17 73257986 73257986 C T snp 5501.77 1/1 99 205 0 205 1.0 exonic rs8075276 MRPS7 AU nonsynonymous SNV NM_015971 exon1 c.C5T p.A2V 0.657348 0.8284 0.659948 0.7958 0.8707 0.04 T 1.0 P -1.015 T 0.029 T 0.013 T Pathogenic 17_73258086_GC->- 17 73258086 73258087 GC - indel 3924.73 1/1 99 87 0 87 1.0 intronic rs201061936 MRPS7 AU NM_015971 exon1 c.83+22_83+23delGC 0.829473 0.9266 0.8630 0.9368 Uncertain 17_73258479_C->T 17 73258479 73258479 C T snp 7720.77 1/1 99 250 1 249 1.0 intronic rs6501772 MRPS7 AU NM_015971 exon2 c.596-98C>T 0.888778 0.9286 0.8613 0.9377 Uncertain 17_73259083_C->T 17 73259083 73259083 C T snp 587.77 1/1 45 16 0 16 1.0 intronic rs2279162 MRPS7 AU NM_015971 exon3 c.967+135C>T 0.53095 0.8264 Uncertain 17_73268801_C->T 17 73268801 73268801 C T snp 1367.77 1/1 99 48 0 48 1.0 ncRNA_exonic rs3744231 LOC100287042 AU 0.536741 0.8264 0.6524 0.875 Uncertain 17_73268904_C->T 17 73268904 73268904 C T snp 220.84 1/1 18 6 0 6 1.0 ncRNA_exonic rs3744230 LOC100287042 AU 0.536542 0.8264 Uncertain 17_73268906_G->C 17 73268906 73268906 G C snp 77.77 0/1 99 6 3 3 0.5 ncRNA_exonic rs3744229 LOC100287042 AU Uncertain 17_73269530_A->G 17 73269530 73269530 A G snp 1837.77 1/1 99 68 0 68 1.0 ncRNA_exonic rs1809352 LOC100287042 AU 0.90016 1 0.869752 0.9290 0.9996 Uncertain 17_73269676_C->T 17 73269676 73269676 C T snp 865.77 1/1 63 29 0 29 1.0 exonic rs4789164 SLC25A19 AR synonymous SNV NM_021734 exon8 c.G819A p.L273L 0.530152 0.8264 0.503076 0.6517 0.8673 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000118371.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 17_73279624_A->G 17 73279624 73279624 A G snp 2309.77 1/1 99 84 0 84 1.0 exonic rs7213318 SLC25A19 AR synonymous SNV NM_021734 exon5 c.T339C p.Y113Y 0.889577 0.9008 0.936030 0.9617 0.9266 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000118368.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 17_73279700_C->T 17 73279700 73279700 C T snp 2751.77 1/1 99 105 0 105 1.0 intronic rs4788882 SLC25A19 AR NM_021734 exon4 c.10143+26C>T 0.992412 1 0.991312 0.9976 1 Uncertain 17_73282299_C->T 17 73282299 73282299 C T snp 407.77 1/1 33 11 0 11 1.0 intronic rs2306218 SLC25A19 AR NM_021734 exon5 c.12853-85C>T 0.546725 0.8393 Uncertain 17_73282636_C->T 17 73282636 73282636 C T snp 3446.77 1/1 99 118 0 118 1.0 intronic rs2306219 SLC25A19 AR NM_021734 exon6 c.13182-77C>T 0.692292 0.8403 Uncertain 17_73316679_G->C 17 73316679 73316679 G C snp 1110.77 1/1 81 34 0 34 1.0 intronic rs8079197 GRB2 AU NM_002086 exon1 c.186+45G>C 0.558107 0.8274 0.558385 0.6965 0.8818 Uncertain 17_73317644_C->T 17 73317644 73317644 C T snp 626.77 1/1 48 21 0 21 1.0 intronic rs12946365 GRB2 AU NM_002086 exon2 c.1291-95C>T 0.590056 0.8284 Uncertain 17_73328773_T->C 17 73328773 73328773 T C snp 1491.77 1/1 99 60 0 60 1.0 intronic rs1529844 GRB2 AU NM_002086 exon4 c.12332-7T>C 0.992013 1 0.988082 0.9969 1 Uncertain 17_73389446_A->G 17 73389446 73389446 A G snp 639.77 1/1 48 17 0 17 1.0 intronic rs4788890 GRB2 AU NM_002086 exon5 c.73183-185A>G 0.61861 0.9454 Uncertain 17_73402246_C->A 17 73402246 73402246 C A snp 1358.77 1/1 96 52 0 52 1.0 upstream;downstream rs7220246 GRB2;MIR3678 UN 1 1 1 1 Uncertain 17_73482111_C->- 17 73482111 73482111 C - indel 1685.73 1/1 99 42 0 42 1.0 intronic rs11331365 KIAA0195 AU NM_014738 exon4 c.14093+32delC 0.735623 0.5754 0.832529 0.7973 0.5505 Uncertain 17_73482664_T->C 17 73482664 73482664 T C snp 179.9 1/1 15 6 0 6 1.0 intronic rs9899149 KIAA0195 AU NM_014738 exon5 c.14521+157T>C 0.780751 0.5794 Uncertain 17_73484753_C->G 17 73484753 73484753 C G snp 2783.77 1/1 99 104 0 104 1.0 intronic rs11652993 KIAA0195 AU NM_014738 exon7 c.16853-86C>G 0.816693 0.5794 Uncertain 17_73485033_T->C 17 73485033 73485033 T C snp 2085.77 1/1 99 72 0 72 1.0 intronic rs11867527 KIAA0195 AU NM_014738 exon7 c.17005+42T>C 0.781749 0.5794 0.897554 0.8252 0.5400 Uncertain 17_73485781_C->T 17 73485781 73485781 C T snp 5567.77 1/1 99 199 0 199 1.0 intronic rs8079362 KIAA0195 AU NM_014738 exon9 c.17757+38C>T 0.437101 0.4653 0.515685 0.5893 0.4650 Uncertain 17_73486626_G->A 17 73486626 73486626 G A snp 499.77 1/1 39 14 0 14 1.0 intronic rs6501812 KIAA0195 AU NM_014738 exon11 c.18796-156G>A 0.777756 0.5784 Uncertain 17_73488794_C->T 17 73488794 73488794 C T snp 6312.77 1/1 99 206 0 206 1.0 exonic rs4078259 KIAA0195 AU synonymous SNV NM_014738 exon15 c.C1836T p.I612I 0.635783 0.4673 0.749346 0.7554 0.4502 Uncertain 17_73489220_T->C 17 73489220 73489220 T C snp 3455.77 1/1 99 120 0 120 1.0 intronic rs7215753 KIAA0195 AU NM_014738 exon16 c.21197+37T>C 0.9998 0.999 0.9999 0.9980 Uncertain 17_73489567_C->G 17 73489567 73489567 C G snp 7340.77 1/1 99 250 0 250 1.0 splicing rs4078474 KIAA0195 AU NM_014738 exon17 c.21585-4C>G 0.591454 0.4911 0.714439 0.7199 0.4759 Pathogenic 17_73489991_T->C 17 73489991 73489991 T C snp 328.77 0/1 99 48 32 16 0.33 exonic KIAA0195 AU nonsynonymous SNV NM_014738 exon18 c.T2401C p.S801P 0.24 T 1 D -0.718 T 1.0 D 0.997 D Pathogenic 17_73490611_A->G 17 73490611 73490611 A G snp 396.77 1/1 30 12 0 12 1.0 intronic rs8078131 KIAA0195 AU NM_014738 exon19 c.22721-96A>G 0.785743 0.5992 Uncertain 17_73491894_G->A 17 73491894 73491894 G A snp 509.77 1/1 39 17 0 17 1.0 intronic rs11077792 KIAA0195 AU NM_014738 exon23 c.24060-152G>A 0.780152 0.5774 Uncertain 17_73494963_G->A 17 73494963 73494963 G A snp 1362.77 1/1 99 37 0 37 1.0 intronic rs9894026 KIAA0195 AU NM_014738 exon31 c.27006-29G>A 0.779553 0.5784 0.895356 0.8243 0.5406 Uncertain 17_73497415_T->C 17 73497415 73497415 T C snp 776.77 1/1 57 21 0 21 1.0 intronic rs8081353 CASKIN2 AU NM_001142643 exon2 c.388-133T>C 0.779752 0.5694 Uncertain 17_73497417_T->C 17 73497417 73497417 T C snp 774.77 1/1 57 21 0 21 1.0 intronic rs8081354 CASKIN2 AU NM_001142643 exon2 c.388-131T>C 0.779752 0.5694 Uncertain 17_73497439_G->A 17 73497439 73497439 G A snp 932.77 1/1 69 30 0 30 1.0 intronic rs8075850 CASKIN2 AU NM_001142643 exon2 c.388-109G>A 0.776558 0.5694 Uncertain 17_73497794_T->C 17 73497794 73497794 T C snp 3042.77 1/1 99 110 0 110 1.0 intronic rs9892311 CASKIN2 AU NM_001142643 exon2 c.611+23T>C 0.815296 0.5724 0.929838 0.8336 0.5365 Uncertain 17_73498483_T->C 17 73498483 73498483 T C snp 662.77 0/1 99 48 24 24 0.5 exonic rs7503373 CASKIN2 AU nonsynonymous SNV NM_001142643 exon17 c.A2426G p.E809G 0.797524 0.5159 0.944239 0.8539 0.5436 0.54 T 0.003 P -1.017 T 0.0 T 0.0 T Pathogenic 17_73499697_T->C 17 73499697 73499697 T C snp 4044.77 1/1 99 145 0 145 1.0 intronic rs7207376 CASKIN2 AU NM_001142643 exon5 c.2579-42T>C 0.788339 0.5754 0.903953 0.8308 0.5289 Uncertain 17_73501752_G->A 17 73501752 73501752 G A snp 556.77 1/1 42 16 0 16 1.0 intronic rs8069700 CASKIN2 AU NM_001142643 exon11 c.4572+20G>A 0.515775 0.4812 0.609949 0.6536 0.4651 Uncertain 17_73502118_G->A 17 73502118 73502118 G A snp 2474.77 1/1 99 84 0 84 1.0 intronic rs28558885 CASKIN2 AU NM_001142643 exon12 c.4850+108G>A 0.640974 0.4812 Uncertain 17_73504416_T->C 17 73504416 73504416 T C snp 3613.77 1/1 99 130 0 130 1.0 intronic rs6501815 CASKIN2 AU NM_001142643 exon18 c.7206+50T>C 0.819888 0.5913 0.924923 0.8397 0.5377 Uncertain 17_73510012_A->T 17 73510012 73510012 A T snp 1658.77 1/1 99 44 0 44 1.0 UTR5 rs4789206 CASKIN2 AU 0.645367 0.5734 Uncertain 17_73512653_G->T 17 73512653 73512653 G T snp 46.74 1/1 6 2 0 2 1.0 exonic rs7216673 TSEN54 AR nonsynonymous SNV NM_207346 exon1 c.G12T p.E4D 0.54373 0.5327 0 . 0.25 T 0.000 P -0.998 T 0.0 T 0.001 T CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_multiple_submitters\x2c_no_conflicts;CLNACC=RCV000082837.4;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 17_73513185_C->A 17 73513185 73513185 C A snp 3682.77 1/1 99 139 0 139 1.0 intronic rs7218675 TSEN54 AR NM_207346 exon3 c.512+32C>A 0.455272 0.4474 0.7074 0.5536 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000147779.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 17_73518203_G->C 17 73518203 73518203 G C snp 5625.77 1/1 99 196 0 196 1.0 exonic rs9911502 TSEN54 AR nonsynonymous SNV NM_207346 exon8 c.G1041C p.K347N 0.444688 0.4425 0.540399 0.6414 0.5197 0.07 T 0.999 P -0.942 T 0.969 D 0.642 D CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_multiple_submitters\x2c_no_conflicts;CLNACC=RCV000147767.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 17_73518284_G->C 17 73518284 73518284 G C snp 3303.77 1/1 99 122 0 122 1.0 exonic rs6501820 TSEN54 AR synonymous SNV NM_207346 exon8 c.G1122C p.R374R 0.814297 0.5655 0.935031 0.8717 0.5943 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_multiple_submitters\x2c_no_conflicts;CLNACC=RCV000082834.4;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 17_73519413_C->T 17 73519413 73519413 C T snp 2669.77 1/1 99 98 0 98 1.0 exonic rs8064529 TSEN54 AR nonsynonymous SNV NM_207346 exon9 c.C1310T p.A437V 0.561302 0.4415 0.660695 0.6241 0.4407 0.32 T 0.0 P -0.921 T 0.698 T 0.118 P CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000147771.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 17_73519798_C->T 17 73519798 73519798 C T snp 1203.77 0/1 99 106 50 56 0.53 exonic rs138560086 TSEN54 AR synonymous SNV NM_207346 exon10 c.C1368T p.D456D 0.00339457 0.0159 0.000308 0.0012 0.0142 Uncertain 17_73539385_T->C 17 73539385 73539385 T C snp 80.77 0/1 99 7 4 3 0.43 intronic rs62088546 LLGL2 AU 0.344249 0.4504 Uncertain 17_73539631_A->G 17 73539631 73539631 A G snp 1520.77 0/1 99 107 46 61 0.57 intronic rs6501822 LLGL2 AU NM_004524 exon2 c.75+49A>G 0.789537 0.7262 0.867984 0.8427 0.6518 Uncertain 17_73539795_G->C 17 73539795 73539795 G C snp 116.77 0/1 99 8 4 4 0.5 intronic rs6501823 LLGL2 AU NM_004524 exon2 c.75+213G>C 0.852236 0.7252 Uncertain 17_73552062_G->C 17 73552062 73552062 G C snp 203.77 0/1 99 26 19 7 0.27 intronic rs2305528 LLGL2 AU NM_004524 exon3 c.12619-64G>C 0.450679 0.4683 Uncertain 17_73552185_G->A 17 73552185 73552185 G A snp 1184.77 0/1 99 139 83 56 0.4 exonic rs1671036 LLGL2 AU nonsynonymous SNV NM_001031803 exon3 c.G134A p.R45H 0.409145 0.4683 0.423420 0.5026 0.4534 0.1 T 0.128 P -0.921 T 0.054 T 0.031 T Pathogenic 17_73565262_T->A 17 73565262 73565262 T A snp 2289.77 0/1 99 210 111 99 0.47 intronic rs2305526 LLGL2 AU NM_004524 exon14 c.25794-39T>A 0.841454 0.622 0.977703 0.8818 0.5494 Uncertain 17_73587640_T->C 17 73587640 73587640 T C snp 2404.77 1/1 99 93 0 93 1.0 ncRNA_intronic rs707709 MYO15B AU 0.932308 1 0.9803 1 Uncertain 17_73587784_A->G 17 73587784 73587784 A G snp 1294.77 0/1 99 150 87 63 0.42 ncRNA_exonic rs936056 MYO15B AU 0.611821 0.6855 0.6569 0.6584 Uncertain 17_73587910_C->T 17 73587910 73587910 C T snp 1686.77 1/1 99 52 0 52 1.0 ncRNA_intronic rs12449676 MYO15B AU 0.402356 0.506 Uncertain 17_73588199_T->C 17 73588199 73588199 T C snp 1355.77 0/1 99 75 27 48 0.64 ncRNA_intronic rs736525 MYO15B AU 0.388578 0.2212 0.4024 0.2188 Uncertain 17_73588233_G->T 17 73588233 73588233 G T snp 1201.77 0/1 99 67 27 40 0.6 ncRNA_intronic rs56298033 MYO15B AU 0.236222 0.2123 Uncertain 17_73590436_A->G 17 73590436 73590436 A G snp 1632.77 1/1 99 55 0 55 1.0 ncRNA_intronic rs820254 MYO15B AU 0.619609 0.7748 Uncertain 17_73590830_T->G 17 73590830 73590830 T G snp 4416.77 1/1 99 152 0 152 1.0 ncRNA_exonic rs820256 MYO15B AU 0.905351 0.9306 0.9208 0.9242 Uncertain 17_73601755_G->A 17 73601755 73601755 G A snp 793.77 1/1 57 30 0 30 1.0 ncRNA_intronic rs936054 MYO15B AU 1 1 Uncertain 17_73606412_C->T 17 73606412 73606412 C T snp 113.77 0/1 99 14 8 6 0.43 ncRNA_intronic rs141257065 MYO15B AU 0.00638978 0.001 Uncertain 17_73607804_T->C 17 73607804 73607804 T C snp 258.77 0/1 99 23 12 11 0.48 ncRNA_intronic rs3743991 MYO15B AU 0.214856 0.2619 Uncertain 17_73609139_C->T 17 73609139 73609139 C T snp 4995.77 1/1 99 172 0 172 1.0 ncRNA_exonic rs3803728 MYO15B AU 0.400559 0.5903 0.4313 0.61 Uncertain 17_73610203_C->T 17 73610203 73610203 C T snp 326.78 1/1 27 11 0 11 1.0 ncRNA_intronic rs4789221 MYO15B AU 0.413139 0.5903 Uncertain 17_73611467_A->G 17 73611467 73611467 A G snp 719.77 0/1 99 53 29 24 0.45 ncRNA_intronic rs3803729 MYO15B AU 0.392772 0.3383 0.4234 0.2857 Uncertain 17_73612642_-->T 17 73612642 73612642 - T indel 10556.7 1/1 99 250 0 250 1.0 ncRNA_exonic rs11439064 MYO15B AU 1 1 1 1 Uncertain 17_73616212_G->- 17 73616212 73616212 G - indel 1579.73 0/1 99 85 39 46 0.54 ncRNA_intronic rs3840857 MYO15B AU 0.47484 0.4881 Uncertain 17_73616239_C->G 17 73616239 73616239 C G snp 699.77 0/1 99 55 28 27 0.49 ncRNA_intronic rs820153 MYO15B AU 0.455471 0.4931 Uncertain 17_73619953_C->G 17 73619953 73619953 C G snp 3725.77 1/1 99 127 0 127 1.0 ncRNA_intronic rs55841054 MYO15B AU 0.96266 1 Uncertain 17_73619954_T->G 17 73619954 73619954 T G snp 3712.77 1/1 99 126 0 126 1.0 ncRNA_intronic rs55894182 MYO15B AU 0.96266 1 Uncertain 17_73619956_CTG->- 17 73619956 73619958 CTG - indel 6200.73 1/1 99 130 0 130 1.0 ncRNA_intronic rs10578377 MYO15B AU 0.962859 1 Uncertain 17_73620804_C->A 17 73620804 73620804 C A snp 3019.77 1/1 99 99 0 99 1.0 ncRNA_intronic rs820187 MYO15B AU 0.986621 1 0.9973 1 Uncertain 17_73621432_A->G 17 73621432 73621432 A G snp 1794.77 1/1 99 55 0 55 1.0 ncRNA_intronic rs820188 MYO15B AU 0.865415 0.994 Uncertain 17_73624584_T->G 17 73624584 73624584 T G snp 43.77 0/1 55 4 2 2 0.5 intronic rs549306508 RECQL5 AU NM_004259 exon3 c.1021+62T>G 0.000998403 Uncertain 17_73625430_G->A 17 73625430 73625430 G A snp 3465.77 1/1 99 125 0 125 1.0 exonic rs4788902 RECQL5 AU synonymous SNV NM_004259 exon16 c.C2073T p.H691H 0.525958 0.8085 0.475210 0.6127 0.8209 Uncertain 17_73625478_T->C 17 73625478 73625478 T C snp 4019.77 1/1 99 143 0 143 1.0 exonic rs820191 RECQL5 AU synonymous SNV NM_004259 exon16 c.A2025G p.T675T 0.989217 1 0.989555 0.9968 1 Uncertain 17_73625629_A->C 17 73625629 73625629 A C snp 2395.77 1/1 99 74 0 74 1.0 intronic rs820192 RECQL5 AU NM_004259 exon5 c.2054+74A>C 0.951278 1 Uncertain 17_73626208_G->C 17 73626208 73626208 G C snp 821.77 1/1 63 23 0 23 1.0 intronic rs820193 RECQL5 AU NM_004259 exon7 c.2762-55G>C 0.990216 1 Uncertain 17_73626817_G->A 17 73626817 73626817 G A snp 996.77 0/1 99 81 41 40 0.49 intronic rs820194 RECQL5 AU NM_004259 exon9 c.3357-41G>A 0.39397 0.4851 0.347632 0.4253 0.5213 Uncertain 17_73626829_C->G 17 73626829 73626829 C G snp 2390.77 1/1 99 77 0 77 1.0 intronic rs820195 RECQL5 AU NM_004259 exon9 c.3357-29C>G 0.989018 1 0.989860 0.9966 0.9988 Uncertain 17_73626918_-->TG 17 73626918 73626918 - TG indel 775.73 0/1 99 76 43 33 0.43 splicing rs142406301 RECQL5 AU NM_004259 exon9 c.3416+1insTG 0.0004 0 ID=COSM127072;OCCURENCE=1(upper_aerodigestive_tract),1(haematopoietic_and_lymphoid_tissue) Pathogenic 17_73626983_G->C 17 73626983 73626983 G C snp 1188.77 0/1 99 133 80 53 0.4 intronic rs9896073 RECQL5 AU NM_004259 exon9 c.3416+66G>C 0.514776 0.5704 0.583005 Uncertain 17_73627539_T->C 17 73627539 73627539 T C snp 1326.77 0/1 99 129 75 54 0.42 exonic rs820196 RECQL5 AU nonsynonymous SNV NM_004259 exon9 c.A1439G p.D480G 0.265775 0.2758 0.201253 0.2536 0.2803 0.53 T 1.0 P -1.019 T 0.0 T 0.0 T Pathogenic 17_73627565_A->G 17 73627565 73627565 A G snp 3572.77 1/1 99 126 0 126 1.0 exonic rs820197 RECQL5 AU synonymous SNV NM_004259 exon9 c.T1413C p.Y471Y 0.988618 1 0.989622 0.9968 1 Uncertain 17_73643769_T->C 17 73643769 73643769 T C snp 99.28 1/1 9 3 0 3 1.0 UTR3 rs820207 SMIM6 AU 0.964058 1 Uncertain 17_73647138_C->T 17 73647138 73647138 C T snp 675.77 0/1 99 33 14 19 0.58 UTR3 rs1661744 RECQL5 AU 0.413139 0.5109 Uncertain 17_73647139_A->G 17 73647139 73647139 A G snp 677.77 0/1 99 33 14 19 0.58 UTR3 rs1661745 RECQL5 AU 0.502995 0.5109 Uncertain 17_73658489_T->C 17 73658489 73658489 T C snp 429.77 1/1 33 11 0 11 1.0 intronic rs820159 RECQL5 AU NM_004259 exon17 c.35057-69T>C 0.967851 1 Uncertain 17_73663296_C->A 17 73663296 73663296 C A snp 319.77 0/1 99 28 16 12 0.43 UTR5 rs2165635 SAP30BP AU 0.381989 0.5109 Uncertain 17_73663297_T->G 17 73663297 73663297 T G snp 356.77 0/1 99 31 18 13 0.42 UTR5 rs2165634 SAP30BP AU 0.381989 0.5109 Uncertain 17_73663313_C->A 17 73663313 73663313 C A snp 718.77 0/1 99 51 26 25 0.49 UTR5 rs864234 SAP30BP AU 0.38139 0.5109 Uncertain 17_73668107_A->G 17 73668107 73668107 A G snp 86.77 0/1 30 4 1 3 0.75 intronic rs820129 SAP30BP AU NM_013260 exon3 c.4491+164A>G 0.488019 0.5109 Uncertain 17_73686730_G->T 17 73686730 73686730 G T snp 397.77 0/1 99 40 23 17 0.42 intronic rs78863853 SAP30BP AU NM_001301855 exon4 c.23298-20G>T 0.0355431 0.1548 0.0027 0.1061 Uncertain 17_73698481_G->C 17 73698481 73698481 G C snp 101.77 0/1 99 13 9 4 0.31 intronic rs6501830 SAP30BP AU NM_013260 exon6 c.35107-78G>C 0.221645 0.3482 Uncertain 17_73698557_C->T 17 73698557 73698557 C T snp 1418.77 1/1 99 50 0 50 1.0 splicing rs820232 SAP30BP AU NM_013260 exon6 c.35107-2C>T 0.979832 1 0.977087 0.9937 1 Pathogenic 17_73699546_G->C 17 73699546 73699546 G C snp 259.77 0/1 99 15 6 9 0.6 intronic rs3743999 SAP30BP AU NM_013260 exon7 c.35999+95G>C 0.0353435 0.1538 Uncertain 17_73700131_G->- 17 73700131 73700131 G - indel 311.73 0/1 99 20 11 9 0.45 intronic rs78580953 SAP30BP AU NM_013260 exon8 c.36487+192delG 0.385783 0.4683 Uncertain 17_73702253_G->A 17 73702253 73702253 G A snp 1002.77 0/1 99 54 22 32 0.59 intronic rs2305529 SAP30BP AU NM_013260 exon10 c.38720+81G>A 0.386981 0.4663 Uncertain 17_73702317_A->G 17 73702317 73702317 A G snp 887.77 1/1 66 27 1 26 0.96 intronic rs820230 SAP30BP AU NM_013260 exon11 c.38967-102A>G 0.96885 1 Uncertain 17_73702402_T->C 17 73702402 73702402 T C snp 3065.77 1/1 99 109 0 109 1.0 intronic rs820229 SAP30BP AU NM_013260 exon11 c.38967-17T>C 0.951877 0.994 0.955098 0.9846 0.9986 Uncertain 17_73720638_C->T 17 73720638 73720638 C T snp 1334.77 0/1 99 82 31 51 0.62 intronic rs820166 ITGB4 AR,AD 0.738618 0.8948 Uncertain 17_73720727_G->A 17 73720727 73720727 G A snp 2459.77 0/1 99 241 133 108 0.45 intronic rs3862481 ITGB4 AR,AD 0.0986422 0.1052 0.134691 Uncertain 17_73720900_A->G 17 73720900 73720900 A G snp 3153.77 1/1 99 104 1 103 0.99 intronic rs820167 ITGB4 AR,AD NM_000213 exon2 c.79+38A>G 0.976438 1 0.971628 0.9924 1 Uncertain 17_73723454_C->- 17 73723454 73723454 C - indel 4232.73 1/1 99 124 0 124 1.0 intronic rs34275940 ITGB4 AR,AD NM_000213 exon4 c.2701-30delC 1 1 0.999920 1.0000 1 Uncertain 17_73725298_C->T 17 73725298 73725298 C T snp 1690.77 0/1 99 120 57 63 0.53 intronic rs1661674 ITGB4 AR,AD NM_000213 exon7 c.4562-47C>T 0.340256 0.3899 0.258419 0.2955 0.4193 Uncertain 17_73725301_C->T 17 73725301 73725301 C T snp 1767.77 0/1 99 122 59 63 0.52 intronic rs34598265 ITGB4 AR,AD NM_000213 exon7 c.4562-44C>T 0.340455 0.3899 0.258881 0.2953 0.4191 Uncertain 17_73725304_C->G 17 73725304 73725304 C G snp 1807.77 0/1 99 132 67 65 0.49 intronic rs1661675 ITGB4 AR,AD NM_000213 exon7 c.4562-41C>G 0.340056 0.3899 0.258573 0.2949 0.4186 Uncertain 17_73732025_C->T 17 73732025 73732025 C T snp 774.77 0/1 99 64 34 30 0.47 intronic rs820174 ITGB4 AR,AD NM_000213 exon14 c.11348-106C>T 0.697284 0.5962 Uncertain 17_73732045_T->C 17 73732045 73732045 T C snp 934.77 0/1 99 87 50 37 0.43 intronic rs820175 ITGB4 AR,AD NM_000213 exon14 c.11348-86T>C 0.705072 0.5962 Uncertain 17_73732428_G->A 17 73732428 73732428 G A snp 2613.77 0/1 99 182 71 111 0.61 exonic rs2290460 ITGB4 AR,AD synonymous SNV NM_001005731 exon15 c.G1821A p.S607S 0.146366 0.2788 0.035907 0.0914 0.3212 Uncertain 17_73732522_T->G 17 73732522 73732522 T G snp 549.77 0/1 99 69 47 22 0.32 intronic rs820176 ITGB4 AR,AD NM_000213 exon15 c.11684+55T>G 0.689896 0.5952 Uncertain 17_73732810_A->C 17 73732810 73732810 A C snp 1836.77 0/1 99 157 77 80 0.51 intronic rs820177 ITGB4 AR,AD NM_000213 exon16 c.11992+35A>C 0.69349 0.5972 0.772538 0.7320 0.5616 Uncertain 17_73733315_G->C 17 73733315 73733315 G C snp 775.77 0/1 99 57 29 28 0.49 intronic rs820179 ITGB4 AR,AD NM_000213 exon17 c.12619-87G>C 0.69349 0.5972 Uncertain 17_73733776_CAA->- 17 73733776 73733778 CAA - indel 497.73 0/1 99 24 14 10 0.42 intronic rs144838111 ITGB4 AR,AD NM_000213 exon18 c.12942+51_12942+53delCAA 0.00798722 0.0387 0.0027 0.0348 Uncertain 17_73735920_G->A 17 73735920 73735920 G A snp 1637.77 0/1 99 114 53 61 0.54 intronic rs2290459 ITGB4 AR,AD NM_000213 exon20 c.15177-40G>A 0.157149 0.2758 0.049900 0.0991 0.3223 Uncertain 17_73736740_G->C 17 73736740 73736740 G C snp 94.77 0/1 99 11 7 4 0.36 intronic rs2290457 ITGB4 AR,AD NM_000213 exon22 c.16090-133G>C 0.157947 0.2758 Uncertain 17_73738615_T->C 17 73738615 73738615 T C snp 2877.77 0/1 99 228 112 116 0.51 intronic rs2290456 ITGB4 AR,AD NM_000213 exon24 c.17787+45T>C 0.163339 0.2768 0.054513 0.1028 0.3242 Uncertain 17_73739605_C->T 17 73739605 73739605 C T snp 115.77 0/1 99 8 3 5 0.63 intronic rs56893346 ITGB4 AR,AD NM_000213 exon26 c.19010-188C>T 0.161342 0.2758 Uncertain 17_73746146_T->C 17 73746146 73746146 T C snp 2159.77 0/1 99 178 87 91 0.51 intronic rs820387 ITGB4 AR,AD NM_000213 exon28 c.25408-45T>C 0.740615 0.7927 0.786868 0.8070 0.7836 Uncertain 17_73746370_T->C 17 73746370 73746370 T C snp 471.77 0/1 99 33 18 15 0.45 intronic rs820388 ITGB4 AR,AD NM_000213 exon28 c.25566+21T>C 0.520567 0.628 0.495847 0.5536 0.6499 Uncertain 17_73746427_A->G 17 73746427 73746427 A G snp 287.78 1/1 24 8 0 8 1.0 intronic rs820389 ITGB4 AR,AD NM_000213 exon28 c.25566+78A>G 0.753794 0.8006 Uncertain 17_73752999_C->G 17 73752999 73752999 C G snp 1571.77 0/1 99 134 65 69 0.51 intronic rs2249613 ITGB4 AR,AD NM_000213 exon38 c.32240-24C>G 0.686102 0.6567 0.669231 0.6484 0.6227 Uncertain 17_73753503_T->C 17 73753503 73753503 T C snp 1814.77 0/1 99 183 107 76 0.42 exonic rs871443 ITGB4 AR,AD nonsynonymous SNV NM_001005731 exon39 c.T5126C p.L1709P 0.571486 0.631 0.603568 0.7144 0.6420 0.11 T 1.000 P -0.927 T 0.998 D 0.958 D Pathogenic 17_73753661_C->T 17 73753661 73753661 C T snp 1648.77 0/1 99 125 56 69 0.55 UTR3 rs9367 ITGB4 AR,AD 0.652955 0.5655 0.709519 0.7379 0.5618 Uncertain 17_73759039_C->- 17 73759039 73759039 C - indel 5845.73 1/1 99 147 0 147 1.0 intronic rs35008831 GALK1 AR NM_000154 exon5 c.4958-55delC 1 1 Uncertain 17_73759304_G->T 17 73759304 73759304 G T snp 2692.77 1/1 99 89 0 89 1.0 intronic rs820386 GALK1 AR NM_000154 exon5 c.5094+74G>T 0.967452 1 0.9634 0.9999 Uncertain 17_73759552_G->A 17 73759552 73759552 G A snp 1017.77 1/1 75 35 0 35 1.0 intronic rs7209235 GALK1 AR NM_000154 exon6 c.5384+32G>A 0.692891 0.8244 0.658021 0.7135 0.8242 Uncertain 17_73774841_G->A 17 73774841 73774841 G A snp 2205.77 0/1 99 202 108 94 0.47 intronic rs2071654 H3F3B AU NM_005324 exon1 c.129+37G>A 0.108626 0.3482 0.032754 0.0645 0.3589 Uncertain 17_73780506_G->A 17 73780506 73780506 G A snp 566.77 0/1 99 32 9 23 0.72 upstream;downstream rs11655389 UNK;MIR4738 UN 0.465655 0.501 Uncertain 17_73781076_C->- 17 73781076 73781076 C - indel 195.74 1/1 29 14 0 14 1.0 intronic rs11335367 UNK AU NM_001080419 exon1 c.104+11delC 0.823083 0.8909 0.2704 0.2812 Uncertain 17_73808087_AAC->- 17 73808087 73808089 AAC - indel 561.73 0/1 99 29 16 13 0.45 intronic rs149206483 UNK AU NM_001080419 exon3 c.27231-105_27231-103delAAC 0.174521 0.3839 Uncertain 17_73808780_C->T 17 73808780 73808780 C T snp 80.77 0/1 99 7 3 4 0.57 intronic rs8067328 UNK AU NM_001080419 exon4 c.27705+114C>T 0.174121 0.3829 Uncertain 17_73812909_A->G 17 73812909 73812909 A G snp 744.77 0/1 99 80 46 34 0.42 exonic rs9908146 UNK AU synonymous SNV NM_001080419 exon8 c.A1020G p.P340P 0.823283 0.6161 0.896018 0.9038 0.6130 Uncertain 17_73816026_A->G 17 73816026 73816026 A G snp 1394.77 0/1 99 138 83 55 0.4 exonic rs11868471 UNK AU synonymous SNV NM_001080419 exon13 c.A1674G p.A558A 0.864816 0.6954 0.924932 0.9151 0.6671 Uncertain 17_73819525_C->T 17 73819525 73819525 C T snp 906.77 0/1 99 89 52 37 0.42 exonic rs8078208 UNK AU synonymous SNV NM_001080419 exon15 c.C2199T p.S733S 0.40655 0.4226 0.358618 0.3238 0.5045 Uncertain 17_73824121_T->C 17 73824121 73824121 T C snp 906.77 0/1 99 80 39 41 0.51 exonic rs7210574 UNC13D AU synonymous SNV NM_199242 exon32 c.A3198G p.E1066E 0.526158 0.4365 0.519481 0.4844 0.5316 Uncertain 17_73826611_G->A 17 73826611 73826611 G A snp 844.77 0/1 99 56 17 39 0.7 intronic rs2290768 UNC13D AU NM_199242 exon5 c.2613-47G>A 0.252995 0.3095 0.186205 0.2250 0.4304 Uncertain 17_73827205_T->C 17 73827205 73827205 T C snp 2135.77 0/1 99 159 76 83 0.52 exonic rs1135688 UNC13D AU nonsynonymous SNV NM_199242 exon27 c.A2599G p.K867E 0.499401 0.4266 0.493079 0.3666 0.4454 1 T 0.0 P -0.948 T 0.0 T 0.001 T Pathogenic 17_73827436_-->G 17 73827436 73827436 - G indel 1087.73 0/1 99 101 46 55 0.54 intronic rs3217698 UNC13D AU NM_199242 exon7 c.3384+7insG 0.310104 0.3214 0.249800 0.1615 0.3579 Uncertain 17_73830270_G->A 17 73830270 73830270 G A snp 1193.77 0/1 99 126 74 52 0.41 intronic rs7212635 UNC13D AU NM_199242 exon9 c.6179+46G>A 0.254193 0.3323 0.187836 0.1356 0.3612 Uncertain 17_73831016_G->A 17 73831016 73831016 G A snp 891.77 0/1 99 85 43 42 0.49 exonic rs2290770 UNC13D AU synonymous SNV NM_199242 exon21 c.C1977T p.T659T 0.0798722 0.2837 0.017607 0.0318 0.2968 Uncertain 17_73831658_A->G 17 73831658 73831658 A G snp 932.77 0/1 99 80 46 34 0.42 intronic rs3744024 UNC13D AU NM_199242 exon13 c.7565+48A>G 0.302516 0.3323 0.238809 0.1770 0.3957 Uncertain 17_73831900_T->C 17 73831900 73831900 T C snp 3001.77 0/1 99 226 105 121 0.54 intronic rs3744026 UNC13D AU NM_199242 exon15 c.7890-35T>C 0.308307 0.3323 0.244810 0.1525 0.3571 Uncertain 17_73836162_C->G 17 73836162 73836162 C G snp 1368.77 0/1 99 114 58 56 0.49 exonic rs7223416 UNC13D AU synonymous SNV NM_199242 exon11 c.G888C p.P296P 0.490216 0.4246 0.484082 0.3706 0.4367 Uncertain 17_73837142_A->C 17 73837142 73837142 A C snp 1831.77 0/1 99 150 76 74 0.49 intronic rs8067076 UNC13D AU NM_199242 exon26 c.13037+60A>C 0.501997 0.4246 0.485764 Uncertain 17_73838322_A->G 17 73838322 73838322 A G snp 41.77 0/1 70 5 3 2 0.4 intronic rs8066943 UNC13D AU NM_199242 exon27 c.14468-191A>G 0.216653 0.3095 Uncertain 17_73838816_G->A 17 73838816 73838816 G A snp 650.77 0/1 99 43 20 23 0.53 intronic rs3744006 UNC13D AU NM_199242 exon28 c.14892-121G>A 0.493011 0.4246 Uncertain 17_73839137_G->A 17 73839137 73839137 G A snp 1364.77 0/1 99 115 60 55 0.48 exonic rs3744007 UNC13D AU synonymous SNV NM_199242 exon4 c.C279T p.P93P 0.10004 0.2827 0.035621 0.0517 0.2946 Uncertain 17_73840272_C->T 17 73840272 73840272 C T snp 1197.77 0/1 99 111 54 57 0.51 intronic rs3744011 UNC13D AU NM_199242 exon32 c.16256-29C>T 0.16234 0.3165 0.100877 0.0908 0.3338 Uncertain 17_73842892_C->T 17 73842892 73842892 C T snp 1122.77 0/1 99 107 58 49 0.46 intronic rs2305914 WBP2 AU NM_012478 exon1 c.54+24C>T 0.235623 0.3204 0.165923 0.2115 0.4218 Uncertain 17_73847798_G->A 17 73847798 73847798 G A snp 1463.77 0/1 99 132 65 67 0.51 intronic rs936392 WBP2 AU NM_012478 exon7 c.4943+41G>A 0.0597045 0.0427 0.013532 0.0546 0.0524 Uncertain 17_73871911_G->A 17 73871911 73871911 G A snp 129.77 0/1 99 16 11 5 0.31 intronic rs3744021 TRIM47 AU NM_033452 exon3 c.1418-70G>A 0.419529 0.2232 Uncertain 17_73872948_A->G 17 73872948 73872948 A G snp 411.77 0/1 99 26 11 15 0.58 intronic rs1055129 TRIM47 AU NM_033452 exon5 c.2331+54A>G 0.422923 0.2232 0.438896 Uncertain 17_73874656_C->G 17 73874656 73874656 C G snp 165.77 0/1 99 17 8 9 0.53 UTR5 rs56082951 TRIM47 AU 0.173922 0.119 0.116663 0.2495 0.2065 Uncertain 17_73886888_A->G 17 73886888 73886888 A G snp 676.77 0/1 99 60 31 29 0.48 exonic rs3760128 TRIM65 AU nonsynonymous SNV NM_001256124 exon5 c.T1460C p.L487P 0.464856 0.2222 0.504468 0.5119 0.3788 0.66 T 0.0 P -0.991 T 0.0 T 0.0 T Pathogenic 17_73887996_A->G 17 73887996 73887996 A G snp 1052.77 0/1 99 97 53 44 0.45 intronic rs4393627 TRIM65 AU NM_173547 exon2 c.1100+37A>G 0.165335 0.0923 0.167282 0.1447 0.1212 Uncertain 17_73888273_C->T 17 73888273 73888273 C T snp 1833.77 0/1 99 174 89 85 0.49 intronic rs4398150 TRIM65 AU NM_173547 exon3 c.1407+7C>T 0.119409 0.0923 0.118437 0.1666 0.1628 Uncertain 17_73888423_A->G 17 73888423 73888423 A G snp 1402.77 0/1 99 153 92 61 0.4 exonic rs7222755 TRIM65 AU synonymous SNV NM_001256124 exon3 c.T669C p.H223H 0.408147 0.2212 0.435538 0.3140 0.2268 1.000 P -1.015 T Likely benign 17_73888427_A->C 17 73888427 73888427 A C snp 1517.77 0/1 99 159 94 65 0.41 exonic rs7222757 TRIM65 AU nonsynonymous SNV NM_001256124 exon3 c.T665G p.V222G 0.408147 0.2212 0.435000 0.3144 0.2273 0.39 T 0.000 P -0.979 T 0.0 T 0.0 T Pathogenic 17_73894804_G->A 17 73894804 73894804 G A snp 190.77 0/1 99 19 8 11 0.58 UTR3 rs7370 MRPL38 AU 0.20607 0.1548 Uncertain 17_73897033_-->C 17 73897033 73897033 - C indel 1947.73 0/1 99 187 111 76 0.41 intronic rs111405920 MRPL38 AU NM_032478 exon4 c.2132-29insC 0.400958 0.1984 0.431175 0.3141 0.1919 Uncertain 17_73897046_A->G 17 73897046 73897046 A G snp 1451.77 0/1 99 185 110 75 0.41 intronic rs9902371 MRPL38 AU NM_032478 exon4 c.2132-16A>G 0.336262 0.1736 0.368308 0.2807 0.1673 Uncertain 17_73900688_T->C 17 73900688 73900688 T C snp 696.77 0/1 99 84 46 38 0.45 exonic rs3744015 MRPL38 AU synonymous SNV NM_032478 exon2 c.A180G p.R60R 0.446486 0.2123 0.472948 0.3965 0.2607 Uncertain 17_73906934_G->A 17 73906934 73906934 G A snp 654.77 0/1 99 47 20 27 0.57 intronic rs9302994 FBF1 AU NM_001080542 exon1 c.84+47G>A 0.466254 0.2212 0.484087 0.3814 0.2438 Uncertain 17_73908566_A->C 17 73908566 73908566 A C snp 119.78 0/1 27 5 1 4 0.8 intronic rs9895947 FBF1 AU NM_001080542 exon2 c.1585+178A>C 0.449481 0.2212 Uncertain 17_73909948_C->T 17 73909948 73909948 C T snp 2042.77 0/1 99 198 98 100 0.51 intronic rs55793071 FBF1 AU NM_001080542 exon4 c.3190-45C>T 0.177716 0.1617 0.203944 0.2490 0.2329 Uncertain 17_73910395_G->A 17 73910395 73910395 G A snp 751.77 0/1 99 60 29 31 0.52 intronic rs3826274 FBF1 AU NM_001080542 exon5 c.3576+16G>A 0.110024 0.0823 0.105707 0.1384 0.1031 Uncertain 17_73913729_C->G 17 73913729 73913729 C G snp 56.74 1/1 6 2 0 2 1.0 intronic rs4788912 FBF1 AU NM_001080542 exon8 c.7009-83C>G 1 1 Uncertain 17_73913966_C->- 17 73913966 73913966 C - indel 2442.73 1/1 99 66 0 66 1.0 intronic rs11288315 FBF1 AU NM_001080542 exon8 c.7128+35delC 1 1 0.999657 1.0000 1 Uncertain 17_73922941_T->C 17 73922941 73922941 T C snp 760.77 0/1 99 44 12 32 0.73 exonic rs2305913 FBF1 AU nonsynonymous SNV NM_001080542 exon9 c.A451G p.R151G 0.452276 0.2202 0.473997 0.3901 0.2505 0.12 T 0.000 P -1.066 T 0.0 T 0.0 T Pathogenic 17_73926121_C->A 17 73926121 73926121 C A snp 34.77 0/1 63 5 3 2 0.4 exonic rs1135889 FBF1 AU nonsynonymous SNV NM_001080542 exon6 c.G194T p.G65V 0.177117 0.1597 0.202175 0.2551 0.2681 0.07 T 0.0 P -0.953 T 0.919 T 0.369 D Pathogenic 17_73931787_G->A 17 73931787 73931787 G A snp 949.77 0/1 99 85 42 43 0.51 intronic rs59867239 FBF1 AU NM_001080542 exon27 c.26843-1859G>A 0.179313 0.1706 0.214849 0.1909 0.1606 Uncertain 17_73931847_C->G 17 73931847 73931847 C G snp 281.77 0/1 99 32 21 11 0.34 intronic rs7218498 FBF1 AU NM_001080542 exon27 c.26843-1799C>G 0.45028 0.2212 0.479194 Uncertain 17_73934130_G->A 17 73934130 73934130 G A snp 1572.77 0/1 99 125 59 66 0.53 intronic rs2608882 FBF1 AU NM_001080542 exon28 c.27424-97G>A 0.179313 0.1706 0.214411 0.2918 0.3124 Uncertain 17_73942976_G->A 17 73942976 73942976 G A snp 225.77 0/1 99 15 6 9 0.6 intronic rs2666003 ACOX1 AR NM_004035 exon1 c.48+100G>A 0.451078 0.2212 Uncertain 17_73944596_T->G 17 73944596 73944596 T G snp 127.78 0/1 27 6 1 5 0.83 intronic rs2666005 ACOX1 AR NM_004035 exon2 c.1710+58T>G 0.217053 0.1706 Uncertain 17_73949540_G->C 17 73949540 73949540 G C snp 662.77 0/1 99 67 42 25 0.37 exonic rs1135640 ACOX1 AR nonsynonymous SNV NM_004035 exon7 c.C936G p.I312M 0.550719 0.7877 0.508688 0.6424 0.7919 0.21 T 0.998 P -0.914 T 0.007 T 0.004 T Pathogenic 17_73951864_T->C 17 73951864 73951864 T C snp 2894.77 0/1 99 250 136 114 0.46 intronic rs10852766 ACOX1 AR NM_004035 exon10 c.9080-44T>C 0.549521 0.7877 0.506766 0.6422 0.7928 Uncertain 17_73953404_T->C 17 73953404 73953404 T C snp 122.77 0/1 66 6 2 4 0.67 intronic rs11077798 ACOX1 AR NM_004035 exon11 c.10711-135T>C 0.822484 0.8343 Uncertain 17_73969953_A->G 17 73969953 73969953 A G snp 743.77 0/1 99 49 23 26 0.53 intronic rs3744033 ACOX1 AR NM_007292 exon12 c.27038+87A>G 0.159545 0.1131 Uncertain 17_73982127_T->A 17 73982127 73982127 T A snp 34.77 0/1 63 6 4 2 0.33 ncRNA_intronic rs8073730 TEN1-CDK3 AU 0.183506 0.0536 Uncertain 17_73987373_T->C 17 73987373 73987373 T C snp 135.03 1/1 12 4 0 4 1.0 ncRNA_intronic rs6501847 TEN1-CDK3 AU 0.486621 0.2579 Uncertain 17_73997474_G->A 17 73997474 73997474 G A snp 2669.77 1/1 99 99 0 99 1.0 ncRNA_exonic rs2069528 TEN1-CDK3 AU 0.842053 0.8829 0.803214 0.7845 0.8677 Uncertain 17_74007574_A->G 17 74007574 74007574 A G snp 733.77 0/1 99 71 38 33 0.46 intronic rs2290252 EVPL AU NM_001988 exon2 c.4473-82A>G 0.174521 0.0546 Uncertain 17_74007846_A->G 17 74007846 74007846 A G snp 1983.77 1/1 99 69 2 67 0.97 intronic rs2290251 EVPL AU NM_001988 exon3 c.4669-6A>G 0.278355 0.2183 0.312932 0.2926 0.2109 Uncertain 17_74014634_G->T 17 74014634 74014634 G T snp 1581.77 0/1 99 143 67 76 0.53 exonic rs7218767 EVPL AU nonsynonymous SNV NM_001988 exon12 c.C1332A p.D444E 0.0924521 0.0744 0.080348 0.0508 0.0713 0.23 T 0.301 P -1.084 T 0.732 T 0.166 P Pathogenic 17_74015028_G->A 17 74015028 74015028 G A snp 452.77 0/1 99 41 20 21 0.51 exonic rs2290250 EVPL AU synonymous SNV NM_001988 exon11 c.C1251T p.H417H 0.00998403 0.0476 0.000461 0.0059 0.0565 Uncertain 17_74017501_G->C 17 74017501 74017501 G C snp 43.77 0/1 72 17 14 3 0.18 intronic EVPL AU NM_001988 exon14 c.14365-47G>C 0.0102 0.0007 Uncertain 17_74017554_G->T 17 74017554 74017554 G T snp 93.77 0/1 99 31 23 8 0.26 exonic rs74955334 EVPL AU nonsynonymous SNV NM_001988 exon9 c.C1006A p.R336S 0.2059 0.1652 0.11 T 0.587 P -1.003 T 0.023 T 0.013 T Pathogenic 17_74017573_C->G 17 74017573 74017573 C G snp 93.77 0/1 99 31 23 8 0.26 exonic rs78569674 EVPL AU synonymous SNV NM_001988 exon9 c.G987C p.L329L 0.1218 0.1105 Uncertain 17_74017594_A->G 17 74017594 74017594 A G snp 93.77 0/1 99 32 24 8 0.25 exonic rs193119748 EVPL AU synonymous SNV NM_001988 exon9 c.T966C p.C322C 0.0315 0.0300 Uncertain 17_74018655_C->T 17 74018655 74018655 C T snp 754.77 0/1 99 73 46 27 0.37 intronic rs2598417 EVPL AU NM_001988 exon18 c.15436+36C>T 0.827077 0.8353 0.797394 0.7685 0.8001 Uncertain 17_74019356_G->A 17 74019356 74019356 G A snp 566.77 0/1 99 70 46 24 0.34 intronic rs60346043 EVPL AU NM_001988 exon19 c.16189-16G>A 0.0952476 0.1022 0.076964 0.0503 0.0960 Uncertain 17_74019572_T->C 17 74019572 74019572 T C snp 904.77 0/1 99 87 47 40 0.46 intronic rs2257388 EVPL AU NM_001988 exon20 c.16397-8T>C 0.829473 0.8413 0.795812 0.7636 0.8104 Uncertain 17_74035543_T->C 17 74035543 74035543 T C snp 709.77 0/1 99 50 23 27 0.54 UTR3 rs7409 SRP68 AU 0.390575 0.4663 Uncertain 17_74036468_C->T 17 74036468 74036468 C T snp 1641.77 0/1 99 145 76 69 0.48 intronic rs2305346 SRP68 AU NM_014230 exon2 c.713-31C>T 0.25599 0.4256 0.202829 0.2790 0.3744 Uncertain 17_74036573_A->T 17 74036573 74036573 A T snp 1564.77 0/1 99 159 90 69 0.43 intronic rs2260516 SRP68 AU NM_014230 exon2 c.769+18A>T 0.141374 0.1567 0.167999 0.1786 0.1796 Uncertain 17_74036912_A->G 17 74036912 74036912 A G snp 302.77 0/1 99 25 13 12 0.48 intronic rs2598444 SRP68 AU NM_014230 exon3 c.1197-71A>G 0.560104 0.4673 Uncertain 17_74037208_G->A 17 74037208 74037208 G A snp 793.77 0/1 99 68 33 35 0.51 intronic rs2598445 SRP68 AU NM_014230 exon3 c.1273+149G>A 0.553115 0.4673 Uncertain 17_74039867_T->C 17 74039867 74039867 T C snp 435.77 0/1 99 42 25 17 0.4 intronic rs1530834 SRP68 AU NM_014230 exon4 c.4123-42T>C 0.557708 0.4702 0.550515 0.4577 0.5246 Uncertain 17_74046672_A->G 17 74046672 74046672 A G snp 837.77 0/1 99 103 59 44 0.43 intronic rs2665972 SRP68 AU NM_014230 exon8 c.10821+65A>G 0.559704 0.4712 Uncertain 17_74056413_C->T 17 74056413 74056413 C T snp 1305.77 0/1 99 93 39 54 0.58 exonic rs2665998 SRP68 AU synonymous SNV NM_001260502 exon6 c.G699A p.E233E 0.553914 0.4722 0.547055 0.4529 0.5244 Uncertain 17_74057091_A->G 17 74057091 74057091 A G snp 641.77 0/1 99 60 34 26 0.43 intronic SRP68 AU NM_014230 exon11 c.21404-99A>G Uncertain 17_74063523_G->A 17 74063523 74063523 G A snp 938.77 0/1 99 78 42 36 0.46 intronic rs4789241 SRP68 AU NM_014230 exon14 c.27625+112G>A 0.561901 0.4722 Uncertain 17_74066447_T->A 17 74066447 74066447 T A snp 2720.77 0/1 99 249 132 117 0.47 intronic rs2443168 SRP68 AU NM_014230 exon15 c.30672-11T>A 0.563099 0.4792 0.556743 0.4579 0.5368 Uncertain 17_74076128_C->- 17 74076128 74076128 C - indel 457.73 0/1 99 42 24 18 0.43 intronic rs34700740 ZACN AU NM_180990 exon4 c.730+53delC 0.433506 0.5188 0.438988 0.5549 0.4692 Uncertain 17_74076415_G->A 17 74076415 74076415 G A snp 2867.77 0/1 99 250 135 115 0.46 exonic rs2257020 ZACN AU nonsynonymous SNV NM_180990 exon5 c.G454A p.A152T 0.605032 0.5188 0.614870 0.6008 0.4656 0.32 T 1.000 P -0.915 T 0.0 T 0.0 T Pathogenic 17_74076642_G->A 17 74076642 74076642 G A snp 2809.77 0/1 99 250 132 118 0.47 intronic rs2257028 ZACN AU NM_180990 exon5 c.1160+137G>A 0.432708 0.5188 0.6144 0.4831 Uncertain 17_74077497_G->C 17 74077497 74077497 G C snp 2181.77 0/1 99 198 111 87 0.44 UTR3 rs8836 EXOC7 AU 0.433107 0.5159 0.437952 0.5418 0.4639 Uncertain 17_74079838_A->G 17 74079838 74079838 A G snp 617.77 0/1 99 40 13 27 0.68 intronic rs2665986 EXOC7 AU NM_001145298 exon1 c.103+7A>G 0.611022 0.5238 0.619022 0.6062 0.4773 Uncertain 17_74080871_T->C 17 74080871 74080871 T C snp 44.77 0/1 33 3 1 2 0.67 intronic rs2665985 EXOC7 AU NM_001145298 exon4 c.933+210T>C 0.599241 0.5149 Uncertain 17_74081345_C->T 17 74081345 74081345 C T snp 299.77 0/1 99 21 11 10 0.48 intronic rs2246277 EXOC7 AU NM_001145298 exon5 c.1666-49C>T 0.578075 0.5149 0.591155 0.6211 0.4773 Uncertain 17_74081618_C->T 17 74081618 74081618 C T snp 944.77 0/1 99 45 15 30 0.67 intronic rs2598450 EXOC7 AU NM_001145298 exon5 c.1762+128C>T 0.577077 0.5089 Uncertain 17_74083905_C->T 17 74083905 74083905 C T snp 146.77 0/1 99 13 8 5 0.38 intronic rs2243481 EXOC7 AU NM_001145298 exon8 c.4073+104C>T 0.518171 0.4931 Uncertain 17_74084029_C->T 17 74084029 74084029 C T snp 554.77 0/1 99 33 14 19 0.58 intronic rs2243486 EXOC7 AU NM_001145298 exon9 c.4412-111C>T 0.522165 0.5179 Uncertain 17_74084428_C->G 17 74084428 74084428 C G snp 292.77 0/1 99 20 11 9 0.45 intronic rs2305348 EXOC7 AU NM_001145298 exon10 c.4816-116C>G 0.335863 0.4524 Uncertain 17_74084441_C->T 17 74084441 74084441 C T snp 308.77 0/1 99 24 14 10 0.42 intronic rs2246621 EXOC7 AU NM_001145298 exon10 c.4816-103C>T 0.532548 0.5169 Uncertain 17_74084449_C->T 17 74084449 74084449 C T snp 361.77 0/1 99 25 14 11 0.44 intronic rs2246623 EXOC7 AU NM_001145298 exon10 c.4816-95C>T 0.533147 0.5169 Uncertain 17_74084737_T->C 17 74084737 74084737 T C snp 812.77 0/1 99 58 26 32 0.55 intronic rs2246632 EXOC7 AU NM_001145298 exon10 c.4915+94T>C 0.533946 0.5169 Uncertain 17_74085012_G->A 17 74085012 74085012 G A snp 669.77 0/1 99 56 26 30 0.54 intronic rs2084666 EXOC7 AU NM_001145298 exon11 c.5276+8G>A 0.533746 0.5169 0.487852 0.4836 0.4663 Uncertain 17_74086633_C->G 17 74086633 74086633 C G snp 396.77 0/1 99 27 14 13 0.48 intronic rs2598451 EXOC7 AU NM_001145297 exon13 c.6834+71C>G 0.534345 0.5179 Uncertain 17_74090385_G->A 17 74090385 74090385 G A snp 43.77 0/1 72 4 2 2 0.5 intronic rs2243538 EXOC7 AU NM_001145298 exon14 c.10766-109G>A 0.534145 0.5169 Uncertain 17_74090700_G->A 17 74090700 74090700 G A snp 31.77 0/1 60 11 8 3 0.27 intronic rs2250081 EXOC7 AU NM_001145298 exon14 c.10934+38G>A 0.534345 0.5169 0.488851 0.4796 0.4671 Uncertain 17_74094105_C->G 17 74094105 74094105 C G snp 1763.77 0/1 99 122 51 71 0.58 ncRNA_exonic;splicing rs7208391 MIR6868;EXOC7 UN 0.533946 0.5129 0.488544 0.4831 0.4638 Uncertain 17_74133974_C->T 17 74133974 74133974 C T snp 651.77 0/1 99 58 31 27 0.47 exonic rs894542 FOXJ1 AU synonymous SNV NM_001454 exon3 c.G726A p.T242T 0.076877 0.0347 0.069958 0.1368 0.0411 Uncertain 17_74134318_-->G 17 74134318 74134318 - G indel 221.73 0/1 34 16 2 14 0.88 intronic rs34418968 FOXJ1 AU NM_001454 exon1 c.768+117insG Uncertain 17_74151456_C->T 17 74151456 74151456 C T snp 1810.77 0/1 99 169 94 75 0.44 intronic rs894544 RNF157 AU NM_052916 exon4 c.10083+58C>T 0.0786741 0.0308 0.080596 Uncertain 17_74152366_A->G 17 74152366 74152366 A G snp 1740.77 0/1 99 158 79 79 0.5 exonic rs881502 RNF157 AU synonymous SNV NM_052916 exon14 c.T1450C p.L484L 0.311102 0.2163 0.328925 0.3328 0.2029 Uncertain 17_74158801_C->T 17 74158801 74158801 C T snp 1207.77 0/1 99 102 51 51 0.5 intronic rs4788915 RNF157 AU NM_052916 exon11 c.17389+97C>T 0.0764776 0.0308 Uncertain 17_74162997_A->G 17 74162997 74162997 A G snp 523.77 0/1 73 18 3 15 0.83 intronic rs2278826 RNF157 AU NM_052916 exon15 c.21774-92A>G 0.318291 0.1706 Uncertain 17_74169890_AGG->- 17 74169890 74169892 AGG - indel 735.73 0/1 99 54 37 17 0.31 intronic rs376988448 RNF157 AU NM_052916 exon17 c.28556+19_28556+21delAGG 0.047524 0.0308 0.047444 0.0592 0.0304 Uncertain 17_74208424_G->A 17 74208424 74208424 G A snp 2091.77 0/1 99 181 91 90 0.5 intronic rs9911122 RNF157 AU NM_052916 exon18 c.67129-20G>A 0.271765 0.4603 0.278410 0.3149 0.4501 Uncertain 17_74208622_-->A 17 74208622 74208622 - A indel 188.73 0/1 99 45 13 32 0.71 intronic rs35372072 RNF157 AU NM_052916 exon18 c.67248+59insA 0.298722 0.4365 Uncertain 17_74222320_C->T 17 74222320 74222320 C T snp 221.84 1/1 18 7 0 7 1.0 intronic rs7210049 RNF157 AU NM_052916 exon18 c.67248+13757C>T 0.633387 0.5704 Uncertain 17_74236115_G->C 17 74236115 74236115 G C snp 100.77 0/1 99 30 24 6 0.2 intronic rs8070711 RNF157 AU NM_052916 exon19 c.94918-118G>C 0.0866613 0.0347 Uncertain 17_74261677_T->C 17 74261677 74261677 T C snp 1447.77 1/1 99 56 0 56 1.0 exonic rs2585751 UBALD2 AU synonymous SNV NM_182565 exon1 c.T91C p.L31L 0.714457 0.7024 0.667861 0.6417 0.7356 Uncertain 17_74261929_A->G 17 74261929 74261929 A G snp 1881.77 1/1 99 67 0 67 1.0 intronic rs71382201 UBALD2 AU NM_182565 exon2 c.401-58A>G 0.562101 0.505 0.571397 Uncertain 17_74266322_T->C 17 74266322 74266322 T C snp 1621.77 0/1 99 136 62 74 0.54 exonic rs712833 UBALD2 AU synonymous SNV NM_182565 exon3 c.T231C p.D77D 0.124401 0.0387 0.114077 0.0528 0.0409 Uncertain 17_74270069_T->C 17 74270069 74270069 T C snp 227.77 0/1 99 19 9 10 0.53 downstream rs71815 QRICH2 AU 0.467053 0.5883 Uncertain 17_74273070_G->A 17 74273070 74273070 G A snp 158.77 0/1 99 8 3 5 0.63 intronic rs75047164 QRICH2 AU NM_032134 exon4 c.2927-173G>A 0.0221645 0.0367 Uncertain 17_74273299_G->A 17 74273299 74273299 G A snp 1489.77 0/1 99 102 38 64 0.63 exonic rs73350377 QRICH2 AU nonsynonymous SNV NM_032134 exon16 c.C4712T p.P1571L 0.132788 0.0367 0.126941 0.0527 0.0401 0.76 T 0.787 P -0.948 T 0.004 T 0.001 T Pathogenic 17_74274998_G->A 17 74274998 74274998 G A snp 974.77 0/1 99 64 31 33 0.52 intronic rs347676 QRICH2 AU NM_032134 exon6 c.4805-123G>A 0.461062 0.5843 Uncertain 17_74275030_T->C 17 74275030 74275030 T C snp 2855.77 1/1 99 94 0 94 1.0 intronic rs182972 QRICH2 AU NM_032134 exon6 c.4805-91T>C 0.607827 0.6329 Uncertain 17_74275031_G->A 17 74275031 74275031 G A snp 1288.77 0/1 99 95 49 46 0.48 intronic rs4789266 QRICH2 AU NM_032134 exon6 c.4805-90G>A 0.321086 0.373 Uncertain 17_74276067_C->T 17 74276067 74276067 C T snp 284.77 0/1 99 23 12 11 0.48 intronic rs164010 QRICH2 AU NM_032134 exon8 c.5797-46C>T 0.461861 0.5843 0.404962 0.4220 0.5811 Uncertain 17_74276315_G->A 17 74276315 74276315 G A snp 2241.77 0/1 99 169 78 91 0.54 intronic rs73350386 QRICH2 AU NM_032134 exon9 c.6051-52G>A 0.137979 0.0337 Uncertain 17_74276902_G->A 17 74276902 74276902 G A snp 1723.77 0/1 99 153 76 77 0.5 intronic rs770460110 QRICH2 AU NM_032134 exon11 c.6595-9G>A 8.25e-06 0 Uncertain 17_74283143_ACACACACACACACACACACACACACAT->- 17 74283143 74283170 ACACACACACACACACACACACACACAT - indel 2051.73 1/1 84 28 0 28 1.0 intronic rs11271405 QRICH2 AU NM_032134 exon13 c.12956-129_12956-102delACACACACACACACACACACACACACAT Uncertain 17_74283214_C->A 17 74283214 74283214 C A snp 2654.77 1/1 99 84 0 84 1.0 intronic rs346786 QRICH2 AU NM_032134 exon13 c.12956-58C>A 0.0870607 0.0595 Uncertain 17_74283253_A->G 17 74283253 74283253 A G snp 4422.77 1/1 99 162 0 162 1.0 intronic rs8072620 QRICH2 AU NM_032134 exon13 c.12956-19A>G 0.452875 0.5724 0.394510 0.3401 0.5645 Uncertain 17_74283535_C->T 17 74283535 74283535 C T snp 474.77 1/1 36 13 0 13 1.0 intronic rs9905488 QRICH2 AU NM_032134 exon13 c.13071+148C>T 0.408746 0.5724 Uncertain 17_74283769_T->C 17 74283769 74283769 T C snp 497.77 1/1 39 14 0 14 1.0 intronic rs346785 QRICH2 AU NM_032134 exon14 c.13564-111T>C 0.615216 0.6508 Uncertain 17_74286082_C->T 17 74286082 74286082 C T snp 3053.77 1/1 99 107 0 107 1.0 exonic rs4789273 QRICH2 AU synonymous SNV NM_032134 exon5 c.G3291A p.E1097E 0.453874 0.5724 0.398201 0.3437 0.5642 Uncertain 17_74286106_C->T 17 74286106 74286106 C T snp 2945.77 1/1 99 107 0 107 1.0 exonic rs4789274 QRICH2 AU synonymous SNV NM_032134 exon5 c.G3267A p.T1089T 0.454073 0.5724 0.398739 0.3438 0.5646 Uncertain 17_74286173_A->G 17 74286173 74286173 A G snp 2629.77 1/1 99 105 0 105 1.0 intronic rs17509527 QRICH2 AU NM_032134 exon15 c.15842+15A>G 0.616014 0.6508 0.534753 0.4829 0.6672 Uncertain 17_74287204_C->G 17 74287204 74287204 C G snp 3299.77 1/1 99 127 0 127 1.0 exonic rs2279052 QRICH2 AU nonsynonymous SNV NM_032134 exon4 c.G3106C p.E1036Q 0.415735 0.5734 0.356912 0.3320 0.5655 0.12 T 0.088 P -0.895 T 0.972 D 0.932 D Pathogenic 17_74287389_T->C 17 74287389 74287389 T C snp 2438.77 1/1 99 83 0 83 1.0 exonic rs2279053 QRICH2 AU nonsynonymous SNV NM_032134 exon4 c.A2921G p.H974R 0.469249 0.5734 0.415962 0.3483 0.5654 0.46 T 0.0 P -0.993 T 0.0 T 0.0 T Pathogenic 17_74287594_G->A 17 74287594 74287594 G A snp 3528.77 1/1 99 125 0 125 1.0 exonic rs2279054 QRICH2 AU nonsynonymous SNV NM_032134 exon4 c.C2716T p.H906Y 0.407947 0.5714 0.348147 0.3255 0.5649 0.05 T 0.0 P -1.014 T 0.898 T 0.434 P Pathogenic 17_74288565_TGA->- 17 74288565 74288567 TGA - indel 11265.7 1/1 99 196 0 196 1.0 exonic rs34007000 QRICH2 AU nonframeshift deletion NM_032134 exon4 c.1743_1745del p.581_582del 0.469649 0.5734 0.416134 0.3478 0.5641 ID=COSM1318448;OCCURENCE=1(haematopoietic_and_lymphoid_tissue) Uncertain 17_74289242_T->C 17 74289242 74289242 T C snp 4707.77 1/1 99 165 0 165 1.0 exonic rs3803736 QRICH2 AU synonymous SNV NM_032134 exon4 c.A1068G p.Q356Q 0.0860623 0.0605 0.079809 0.0459 0.0563 Uncertain 17_74289500_G->A 17 74289500 74289500 G A snp 5142.77 1/1 99 178 0 178 1.0 exonic rs3803737 QRICH2 AU synonymous SNV NM_032134 exon4 c.C810T p.V270V 0.469449 0.5724 0.415808 0.3482 0.5664 Uncertain 17_74289705_A->G 17 74289705 74289705 A G snp 7833.77 1/1 99 250 0 250 1.0 exonic rs6501880 QRICH2 AU nonsynonymous SNV NM_032134 exon4 c.T605C p.L202S 0.46266 0.5724 0.409273 0.3474 0.5657 0.8 T 0.0 P -0.978 T 0.002 T 0.002 T Pathogenic 17_74289839_G->A 17 74289839 74289839 G A snp 7179.77 1/1 99 246 0 246 1.0 exonic rs6501881 QRICH2 AU synonymous SNV NM_032134 exon4 c.C471T p.G157G 0.469449 0.5724 0.416039 0.3484 0.5651 Uncertain 17_74289875_C->T 17 74289875 74289875 C T snp 6251.77 1/1 99 210 0 210 1.0 exonic rs6501882 QRICH2 AU synonymous SNV NM_032134 exon4 c.G435A p.G145G 0.469449 0.5724 0.415962 0.3489 0.5653 Uncertain 17_74289908_A->G 17 74289908 74289908 A G snp 6449.77 1/1 99 216 0 216 1.0 exonic rs6501883 QRICH2 AU synonymous SNV NM_032134 exon4 c.T402C p.S134S 0.469449 0.5724 0.416039 0.3491 0.5657 Uncertain 17_74290097_T->A 17 74290097 74290097 T A snp 2722.77 1/1 99 98 0 98 1.0 exonic rs7225131 QRICH2 AU synonymous SNV NM_032134 exon4 c.A213T p.S71S 0.469649 0.5724 0.416013 0.3549 0.5663 Uncertain 17_74300497_G->A 17 74300497 74300497 G A snp 1742.77 1/1 99 59 0 59 1.0 exonic rs73996306 QRICH2 AU nonsynonymous SNV NM_032134 exon3 c.C206T p.A69V 0.086262 0.0605 0.080348 0.0497 0.0595 0.27 T 0.0 P -1.078 T 0.216 T 0.039 T Pathogenic 17_74300916_G->C 17 74300916 74300916 G C snp 996.77 1/1 72 36 0 36 1.0 intronic rs8068457 QRICH2 AU NM_032134 exon18 c.30646-46G>C 0.13778 0.0605 0.136629 0.0612 0.0563 Uncertain 17_74301070_G->A 17 74301070 74301070 G A snp 1337.77 1/1 96 51 0 51 1.0 intronic rs8068763 QRICH2 AU NM_032134 exon18 c.30706+48G>A 0.138379 0.0605 0.136629 0.0611 0.0563 Uncertain 17_74303370_G->A 17 74303370 74303370 G A snp 90.28 1/1 9 3 0 3 1.0 intronic rs443970 QRICH2 AU NM_032134 exon19 c.33229-175G>A 0.617212 0.6488 Uncertain 17_74303379_G->A 17 74303379 74303379 G A snp 136.03 1/1 12 4 0 4 1.0 intronic rs73996309 QRICH2 AU NM_032134 exon19 c.33229-166G>A 0.086262 0.0605 Uncertain 17_74307506_A->G 17 74307506 74307506 A G snp 258.8 1/1 21 7 0 7 1.0 UTR3 rs9498 PRPSAP1 AU 0.148562 0.0605 Uncertain 17_74307737_T->C 17 74307737 74307737 T C snp 4281.77 1/1 99 155 0 155 1.0 exonic rs10459 PRPSAP1 AU synonymous SNV NM_002766 exon10 c.A1044G p.Q348Q 0.25639 0.4444 0.206751 0.1919 0.4288 Uncertain 17_74308891_T->G 17 74308891 74308891 T G snp 2735.77 1/1 99 100 0 100 1.0 intronic rs61440609 PRPSAP1 AU NM_002766 exon2 c.1328-59T>G 0.148363 0.0605 Uncertain 17_74310084_A->C 17 74310084 74310084 A C snp 425.77 1/1 33 12 0 12 1.0 intronic rs56194157 PRPSAP1 AU NM_002766 exon3 c.2350+112A>C 0.139377 0.0605 Uncertain 17_74324729_C->A 17 74324729 74324729 C A snp 811.77 1/1 60 29 0 29 1.0 intronic rs346791 PRPSAP1 AU NM_002766 exon4 c.17175-68C>A 0.790935 0.6171 Uncertain 17_74326553_G->A 17 74326553 74326553 G A snp 1800.77 1/1 99 63 0 63 1.0 intronic rs449114 PRPSAP1 AU NM_002766 exon6 c.19009-78G>A 0.811102 0.625 Uncertain 17_74326556_A->T 17 74326556 74326556 A T snp 1805.77 1/1 99 63 0 63 1.0 intronic rs399029 PRPSAP1 AU NM_002766 exon6 c.19009-75A>T 0.810503 0.625 Uncertain 17_74344578_A->C 17 74344578 74344578 A C snp 44.78 0/1 27 3 1 2 0.67 intronic rs148245058 PRPSAP1 AU NM_002766 exon9 c.36987-31A>C 0.00399361 0.0198 0.0032 0.0342 Uncertain 17_74349515_G->A 17 74349515 74349515 G A snp 99.28 1/1 9 3 0 3 1.0 intronic rs114276513 PRPSAP1 AU NM_002766 exon10 c.41992-99G>A 0.101637 0.0536 Uncertain 17_74349586_C->A 17 74349586 74349586 C A snp 232.84 1/1 18 10 1 9 0.9 intronic rs141639978 PRPSAP1 AU NM_002766 exon10 c.41992-28C>A 0.0638978 0.0536 0.043072 0.0596 0.0274 Uncertain 17_74349834_T->G 17 74349834 74349834 T G snp 127.77 0/1 66 8 2 6 0.75 UTR5 rs372518573 PRPSAP1 AU 0.00878594 0.0208 0.0098 0 Uncertain 17_74381567_G->A 17 74381567 74381567 G A snp 272.8 1/1 21 10 0 10 1.0 exonic rs346803 SPHK1 AU nonsynonymous SNV NM_182965 exon2 c.G100A p.A34T 0.902157 0.999 0.895861 0.9179 0.9968 1 T 0.053 P -0.973 T 0.0 T 0.004 T Pathogenic 17_74383475_T->C 17 74383475 74383475 T C snp 2030.77 0/1 99 167 88 79 0.47 exonic rs3744037 SPHK1 AU synonymous SNV NM_001142602 exon5 c.T963C p.Y321Y 0.214257 0.4028 0.180532 0.1763 0.4058 Uncertain 17_74394934_G->A 17 74394934 74394934 G A snp 2681.77 0/1 99 229 103 126 0.55 exonic rs3744043 UBE2O AU synonymous SNV NM_022066 exon10 c.C1767T p.F589F 0.0467252 0.0863 0.015070 0.0358 0.0792 Uncertain 17_74395148_C->T 17 74395148 74395148 C T snp 120.77 0/1 99 17 11 6 0.35 intronic rs180953077 UBE2O AU NM_022066 exon9 c.8049+76C>T 0.000798722 0.004 Uncertain 17_74396421_G->C 17 74396421 74396421 G C snp 5601.77 1/1 99 192 0 192 1.0 intronic rs3809691 UBE2O AU NM_022066 exon11 c.9355+43G>C 0.348442 0.4891 0.291404 0.2704 0.4876 Uncertain 17_74397026_G->A 17 74397026 74397026 G A snp 817.77 1/1 60 24 0 24 1.0 intronic rs3809693 UBE2O AU NM_022066 exon13 c.10068-65G>A 0.348243 0.4881 Uncertain 17_74398505_A->T 17 74398505 74398505 A T snp 554.77 1/1 42 15 0 15 1.0 intronic rs435892 UBE2O AU NM_022066 exon15 c.11659-177A>T 0.904153 0.999 Uncertain 17_74401406_G->- 17 74401406 74401406 G - indel 7438.73 1/1 99 199 0 199 1.0 intronic rs11290311 UBE2O AU NM_022066 exon16 c.14374+9delG 1 1 1 1 Uncertain 17_74401522_C->T 17 74401522 74401522 C T snp 3045.77 1/1 99 92 0 92 1.0 intronic rs445683 UBE2O AU NM_022066 exon17 c.14571-72C>T 0.495807 0.6032 Uncertain 17_74465448_T->A 17 74465448 74465448 T A snp 843.77 0/1 99 54 25 29 0.54 intronic rs4646261 AANAT AU NM_001088 exon3 c.581+39T>A 0.0826677 0.0754 0.040372 0.0455 0.0542 Uncertain 17_74467664_C->G 17 74467664 74467664 C G snp 467.77 0/1 99 35 17 18 0.51 UTR3 rs76764510 RHBDF2 AD 0.0732827 0.0764 0.026027 0.0362 0.0520 Uncertain 17_74468552_A->G 17 74468552 74468552 A G snp 3356.77 0/1 99 250 112 138 0.55 intronic rs12942767 RHBDF2 AD NM_024599 exon2 c.1053-215A>G 0.839856 0.9236 Uncertain 17_74472998_G->A 17 74472998 74472998 G A snp 1270.77 0/1 99 127 68 59 0.46 exonic rs61742551 RHBDF2 AD synonymous SNV NM_024599 exon9 c.C1116T p.G372G 0.0886581 0.0764 0.044986 0.0486 0.0553 Uncertain 17_74475024_G->A 17 74475024 74475024 G A snp 1300.77 0/1 99 110 54 56 0.51 exonic rs3744045 RHBDF2 AD nonsynonymous SNV NM_024599 exon6 c.C623T p.P208L 0.765176 0.9226 0.795248 0.8787 0.9453 0.11 T 1.000 P -1.042 T 0.375 T 0.141 T Pathogenic 17_74475975_C->A 17 74475975 74475975 C A snp 1263.77 0/1 99 87 30 57 0.66 exonic rs3809694 RHBDF2 AD nonsynonymous SNV NM_024599 exon4 c.G199T p.A67S 0.45627 0.6052 0.404092 0.5083 0.6475 0.45 T 0.0 P -0.948 T 0.001 T 0.004 T Pathogenic 17_74476045_G->C 17 74476045 74476045 G C snp 841.77 0/1 99 55 16 39 0.71 intronic rs3826287 RHBDF2 AD NM_024599 exon16 c.8309+22G>C 0.45647 0.6052 0.399491 0.4898 0.6368 Uncertain 17_74477340_A->G 17 74477340 74477340 A G snp 646.77 0/1 99 59 28 31 0.53 intronic rs3826288 RHBDF2 AD NM_024599 exon17 c.9742-116A>G 0.667931 0.7054 Uncertain 17_74533347_T->C 17 74533347 74533347 T C snp 86.28 1/1 9 3 0 3 1.0 intronic rs9914096 CYGB AU NM_134268 exon4 c.8822-134T>C 0.977236 1 Uncertain 17_74534650_G->T 17 74534650 74534650 G T snp 2997.77 1/1 99 113 1 112 0.99 upstream rs9914222 CYGB AU 0.206869 0.12 Uncertain 17_74536333_C->G 17 74536333 74536333 C G snp 1069.77 1/1 81 32 1 31 0.97 intronic rs77817682 PRCD AU NM_001077620 exon1 c.74+36C>G 0.966054 1 0.9381 0.9705 Uncertain 17_74536335_-->T 17 74536335 74536335 - T indel 1076.73 1/1 49 34 4 30 0.88 intronic rs201716822 PRCD AU NM_001077620 exon1 c.74+38insT 0.236563 0.2078 0.0674 Uncertain 17_74536762_G->T 17 74536762 74536762 G T snp 514.77 1/1 39 14 0 14 1.0 intronic rs2289607 PRCD AU NM_001077620 exon2 c.432+107G>T 0.205272 0.127 Uncertain 17_74539092_C->T 17 74539092 74539092 C T snp 7267.77 1/1 99 249 0 249 1.0 intronic rs4318240 PRCD AU NM_001077620 exon4 c.2887-18C>T 0.975639 1 0.9946 1 Uncertain 17_74540492_C->T 17 74540492 74540492 C T snp 320.78 1/1 27 10 0 10 1.0 UTR3 rs2278639 PRCD AU 0.27516 0.1677 0.3442 0.1809 Uncertain 17_74540917_A->C 17 74540917 74540917 A C snp 2638.77 0/1 99 209 99 110 0.53 UTR3 rs895157 PRCD AU 0.197883 0.1081 0.2292 0.095 Uncertain 17_74541137_C->T 17 74541137 74541137 C T snp 938.77 1/1 72 43 1 42 0.98 UTR3 rs4648339 PRCD AU 0.30651 0.127 0.3403 0.1289 Uncertain 17_74541171_T->C 17 74541171 74541171 T C snp 1795.77 1/1 99 57 0 57 1.0 UTR3 rs5742903 PRCD AU 0.243411 0.127 0.3320 0.1313 Uncertain 17_74554739_C->G 17 74554739 74554739 C G snp 2309.77 1/1 99 70 0 70 1.0 ncRNA_intronic rs4648343 SNHG16 AU 0.403554 0.4851 Uncertain 17_74555106_T->C 17 74555106 74555106 T C snp 2569.77 1/1 99 82 0 82 1.0 ncRNA_exonic rs4647885 SNHG16 AU 0.241014 0.1419 0.2946 0.1583 Uncertain 17_74557681_A->C 17 74557681 74557681 A C snp 4538.77 1/1 99 171 0 171 1.0 ncRNA_intronic rs4510053 SNHG16 AU 0.991613 1 0.993024 0.9979 1 Uncertain 17_74557804_T->- 17 74557804 74557804 T - indel 3293.73 1/1 99 140 1 139 0.99 ncRNA_intronic rs60161580 SNHG16 AU 0.972644 0.999 0.9726 0.9994 Uncertain 17_74559287_T->C 17 74559287 74559287 T C snp 295.78 1/1 24 9 0 9 1.0 ncRNA_exonic rs4451979 SNHG16 AU 0.4246 0.4979 Uncertain 17_74563653_A->G 17 74563653 74563653 A G snp 5748.77 1/1 99 210 2 208 0.99 intronic rs2241918 ST6GALNAC2 AU NM_006456 exon2 c.1449+19A>G 0.742412 0.8819 0.734077 0.7694 0.8749 Uncertain 17_74566524_G->T 17 74566524 74566524 G T snp 93.28 1/1 9 3 0 3 1.0 intronic rs4789314 ST6GALNAC2 AU NM_006456 exon4 c.4461-122G>T 0.975439 1 Uncertain 17_74566530_A->G 17 74566530 74566530 A G snp 43.77 0/1 66 4 2 2 0.5 intronic rs3744054 ST6GALNAC2 AU NM_006456 exon4 c.4461-116A>G 0.676318 0.7798 Uncertain 17_74570245_T->C 17 74570245 74570245 T C snp 96.28 1/1 9 3 0 3 1.0 intronic rs2304923 ST6GALNAC2 AU NM_006456 exon7 c.8261-201T>C 0.753594 0.7877 Uncertain 17_74570408_A->G 17 74570408 74570408 A G snp 4203.77 1/1 99 149 0 149 1.0 intronic rs7207173 ST6GALNAC2 AU NM_006456 exon7 c.8261-38A>G 0.78095 0.8869 0.750423 0.7875 0.8857 Uncertain 17_74574826_C->T 17 74574826 74574826 C T snp 1544.77 0/1 99 118 53 65 0.55 intronic rs2304921 ST6GALNAC2 AU NM_006456 exon8 c.12652-11C>T 0.0894569 0.124 0.051438 0.0838 0.1158 Uncertain 17_74581914_C->G 17 74581914 74581914 C G snp 311.77 0/1 99 24 9 15 0.63 UTR5 rs3135934 ST6GALNAC2 AU 0.391374 0.5496 0.359495 0.4608 0.6261 Uncertain 17_74581945_A->G 17 74581945 74581945 A G snp 480.77 1/1 36 16 0 16 1.0 UTR5 rs12449329 ST6GALNAC2 AU 0.755591 0.8274 Uncertain 17_74581946_A->C 17 74581946 74581946 A C snp 439.77 1/1 33 15 0 15 1.0 UTR5 rs9889807 ST6GALNAC2 AU 0.755391 0.8274 Uncertain 17_74582025_G->C 17 74582025 74582025 G C snp 99.28 1/1 9 3 0 3 1.0 UTR5 rs1867561 ST6GALNAC2 AU 0.754992 0.8274 Uncertain 17_74621635_C->T 17 74621635 74621635 C T snp 667.77 0/1 99 36 10 26 0.72 intronic rs2286595 ST6GALNAC1 AU NM_018414 exon1 c.198+26C>T 0.384784 0.2331 0.501153 0.4710 0.2335 Uncertain 17_74625870_-->G 17 74625870 74625870 - G indel 513.73 0/1 99 33 17 16 0.48 intronic rs11404475 ST6GALNAC1 AU NM_018414 exon8 c.4382+77insG 0.173922 0.3651 Uncertain 17_74639530_T->C 17 74639530 74639530 T C snp 910.77 0/1 99 80 43 37 0.46 intronic rs719430 ST6GALNAC1 AU NM_018414 exon9 c.18178-59T>C 0.311102 0.2688 Uncertain 17_74677156_C->T 17 74677156 74677156 C T snp 252.77 0/1 99 16 8 8 0.5 intronic rs11869629 MXRA7 AU NM_198530 exon1 c.13+195C>T 0.633586 0.4861 Uncertain 17_74681435_A->G 17 74681435 74681435 A G snp 102.77 0/1 99 12 8 4 0.33 intronic rs2286593 MXRA7 AU NM_001008528 exon2 c.7578+188A>G 0.596645 0.4851 Uncertain 17_74684598_C->T 17 74684598 74684598 C T snp 1759.77 0/1 99 144 70 74 0.51 intronic rs4788942 MXRA7 AU NM_001008528 exon3 c.10589+340C>T 0.650359 0.499 0.775 0.5 Uncertain 17_74684858_T->C 17 74684858 74684858 T C snp 118.77 0/1 99 23 16 7 0.3 intronic rs7219390 MXRA7 AU NM_001008528 exon3 c.10589+600T>C 0.35024 0.3492 Uncertain 17_74716759_A->G 17 74716759 74716759 A G snp 424.77 1/1 33 14 0 14 1.0 intronic rs12943725 JMJD6 AU NM_001081461 exon3 c.3813+179A>G 0.714257 0.8581 Uncertain 17_74716790_T->C 17 74716790 74716790 T C snp 56.74 1/1 6 2 0 2 1.0 intronic rs9915282 JMJD6 AU NM_001081461 exon3 c.3813+210T>C 0.990415 1 Uncertain 17_74718155_C->T 17 74718155 74718155 C T snp 291.77 0/1 99 14 4 10 0.71 intronic rs2240769 JMJD6 AU NM_001081461 exon4 c.5248+140C>T 0.25639 0.2688 Uncertain 17_74728938_C->T 17 74728938 74728938 C T snp 222.84 1/1 18 6 0 6 1.0 intronic rs4789351 METTL23 AR NM_001080510 exon3 c.3267-121C>T 0.888978 0.996 Uncertain 17_74732507_A->G 17 74732507 74732507 A G snp 7193.77 1/1 99 238 0 238 1.0 exonic rs237058 SRSF2 AU synonymous SNV NM_001195427 exon2 c.T402C p.S134S 0.990615 1 0.991081 0.9973 1 0.56 T 1.0 P -0.962 T ID=COSM4130674;OCCURENCE=1(thyroid) Likely benign 17_74733099_G->A 17 74733099 74733099 G A snp 6087.77 1/1 99 228 0 228 1.0 exonic rs237057 SRSF2 AU synonymous SNV NM_001195427 exon1 c.C144T p.D48D 0.785543 0.9157 0.796969 0.8886 0.9218 Uncertain 17_74733403_G->A 17 74733403 74733403 G A snp 467.77 1/1 36 14 0 14 1.0 UTR5 rs3744061 SRSF2 AU 0.359026 0.4802 Uncertain 17_74734323_G->A 17 74734323 74734323 G A snp 570.77 1/1 42 18 0 18 1.0 UTR5 rs237054 MFSD11 AU 0.888978 0.996 0.9625 0.9965 Uncertain 17_74734598_C->T 17 74734598 74734598 C T snp 4115.77 1/1 99 140 0 140 1.0 intronic rs237053 MFSD11 AU NM_001242533 exon2 c.96+68C>T 0.888778 0.996 0.9625 0.9956 Uncertain 17_74737000_T->- 17 74737000 74737000 T - indel 98.73 0/1 99 25 11 14 0.56 intronic rs750624428 MFSD11 AU NM_001242533 exon4 c.2604-38delT 0.4542 0.4699 Uncertain 17_74750215_-->T 17 74750215 74750215 - T indel 8287.73 1/1 99 201 0 201 1.0 intronic rs11399997 MFSD11 AU NM_001242533 exon9 c.15735+46insT 0.990815 1 0.991294 0.9975 0.9998 Uncertain 17_74750331_C->T 17 74750331 74750331 C T snp 2049.77 1/1 99 66 0 66 1.0 intronic rs116719 MFSD11 AU NM_001242533 exon9 c.15735+162C>T 0.88738 0.997 Uncertain 17_74846348_G->C 17 74846348 74846348 G C snp 101.28 1/1 9 4 0 4 1.0 intergenic rs72631398 LOC101928514 AU 0.148562 0.3333 Uncertain 17_74846671_C->A 17 74846671 74846671 C A snp 2908.77 1/1 99 116 0 116 1.0 intergenic rs72631399 LOC101928514 AU 0.148363 0.3333 0.0941 0.285 Uncertain 17_74857515_A->C 17 74857515 74857515 A C snp 86.28 1/1 9 4 0 4 1.0 intergenic rs499828 LOC101928514 AU 0.794529 0.997 0.7127 1 Uncertain 17_74857676_A->G 17 74857676 74857676 A G snp 124.77 0/1 99 11 5 6 0.55 intergenic rs13342029 LOC101928514 AU 0.29353 0.5883 0.2923 0.5896 Uncertain 17_74878128_-->G 17 74878128 74878128 - G indel 519.73 0/1 99 42 21 21 0.5 intronic rs11386896 MGAT5B AU NM_001199172 exon3 c.13121-104insG 0.476637 0.5516 Uncertain 17_74878259_G->A 17 74878259 74878259 G A snp 1316.77 0/1 99 110 55 55 0.5 exonic rs571264 MGAT5B AU nonsynonymous SNV NM_198955 exon2 c.G241A p.V81I 0.400359 0.3839 0.280735 0.2608 0.3953 0.14 T 0.012 P -0.956 T 0.023 T 0.007 T Pathogenic 17_74878420_C->T 17 74878420 74878420 C T snp 516.77 0/1 99 40 22 18 0.45 intronic rs1663456 MGAT5B AU NM_001199172 exon3 c.13269+40C>T 0.472644 0.5516 0.324388 0.4554 0.6325 Uncertain 17_74898557_T->C 17 74898557 74898557 T C snp 792.77 0/1 99 65 35 30 0.46 intronic rs485262 MGAT5B AU NM_001199172 exon4 c.33525-79T>C 0.146366 0.0873 Uncertain 17_74898598_G->A 17 74898598 74898598 G A snp 1499.77 0/1 99 125 57 68 0.54 intronic rs485153 MGAT5B AU NM_001199172 exon4 c.33525-38G>A 0.146366 0.0873 0.118572 0.1379 0.1219 Uncertain 17_74898813_G->C 17 74898813 74898813 G C snp 881.77 0/1 99 72 37 35 0.49 intronic rs572008 MGAT5B AU NM_001199172 exon4 c.33641+61G>C 0.141174 0.0873 Uncertain 17_74898843_T->C 17 74898843 74898843 T C snp 697.77 0/1 99 45 22 23 0.51 intronic rs655690 MGAT5B AU NM_001199172 exon4 c.33641+91T>C 0.146366 0.0873 Uncertain 17_74899234_T->A 17 74899234 74899234 T A snp 1643.77 1/1 99 51 0 51 1.0 intronic rs568277 MGAT5B AU NM_001199172 exon5 c.34273-150T>A 0.782149 0.9573 Uncertain 17_74899320_G->C 17 74899320 74899320 G C snp 3878.77 1/1 99 139 0 139 1.0 intronic rs567361 MGAT5B AU NM_001199172 exon5 c.34273-64G>C 0.782149 0.9573 Uncertain 17_74899373_C->T 17 74899373 74899373 C T snp 1460.77 0/1 99 166 94 72 0.43 intronic rs567207 MGAT5B AU NM_001199172 exon5 c.34273-11C>T 0.146366 0.0873 0.126173 0.1216 0.0972 Uncertain 17_74900300_C->T 17 74900300 74900300 C T snp 613.77 0/1 99 64 38 26 0.41 intronic rs537905 MGAT5B AU NM_001199172 exon6 c.35222-33C>T 0.146565 0.0883 0.123865 0.1637 0.1422 Uncertain 17_74900585_C->A 17 74900585 74900585 C A snp 237.77 0/1 57 9 2 7 0.78 intronic rs535136 MGAT5B AU NM_001199172 exon6 c.35393+81C>A 0.279553 0.0992 Uncertain 17_74901177_C->G 17 74901177 74901177 C G snp 811.77 0/1 99 65 35 30 0.46 intronic rs508628 MGAT5B AU NM_001199172 exon7 c.36139-73C>G 0.146565 0.0873 Uncertain 17_74902069_T->C 17 74902069 74902069 T C snp 84.77 0/1 99 22 16 6 0.27 intronic rs600212 MGAT5B AU NM_001199172 exon8 c.36988-30T>C 0.148962 0.0873 0.127038 0.1251 0.0981 Uncertain 17_74920957_G->T 17 74920957 74920957 G T snp 529.77 0/1 99 61 35 26 0.43 intronic rs3889146 MGAT5B AU NM_001199172 exon9 c.55936-90G>T 0.638179 0.7381 Uncertain 17_74921257_G->A 17 74921257 74921257 G A snp 1291.77 1/1 96 45 0 45 1.0 intronic rs8067585 MGAT5B AU NM_001199172 exon9 c.56068+78G>A 0.383187 0.5873 Uncertain 17_74922578_T->C 17 74922578 74922578 T C snp 133.03 1/1 12 4 0 4 1.0 intronic rs12453844 MGAT5B AU NM_001199172 exon10 c.57567-100T>C 0.67472 0.7639 Uncertain 17_74922636_G->A 17 74922636 74922636 G A snp 603.77 1/1 45 17 0 17 1.0 intronic rs12450749 MGAT5B AU NM_001199172 exon10 c.57567-42G>A 0.674321 0.7639 0.687597 0.7226 0.7695 Uncertain 17_74922652_C->T 17 74922652 74922652 C T snp 961.77 1/1 72 27 0 27 1.0 intronic rs11653088 MGAT5B AU NM_001199172 exon10 c.57567-26C>T 0.674321 0.7639 0.688820 0.7328 0.7797 Uncertain 17_74922706_C->T 17 74922706 74922706 C T snp 2861.77 1/1 99 98 2 96 0.98 exonic rs33966966 MGAT5B AU synonymous SNV NM_198955 exon9 c.C1218T p.F406F 0.24361 0.4117 0.161176 0.2121 0.4147 Uncertain 17_74928565_A->G 17 74928565 74928565 A G snp 508.77 1/1 39 14 0 14 1.0 intronic rs1562085 MGAT5B AU NM_001199172 exon11 c.63615-161A>G 0.94389 0.9831 Uncertain 17_74928758_C->T 17 74928758 74928758 C T snp 3336.77 0/1 99 250 115 135 0.54 exonic rs79286496 MGAT5B AU synonymous SNV NM_198955 exon10 c.C1356T p.F452F 0.210463 0.3631 0.154313 0.1887 0.3824 Uncertain 17_74928921_C->T 17 74928921 74928921 C T snp 779.77 0/1 99 33 9 24 0.73 intronic rs77352627 MGAT5B AU NM_001199172 exon11 c.63746+64C>T 0.210264 0.373 Uncertain 17_74928931_C->T 17 74928931 74928931 C T snp 743.77 0/1 99 31 8 23 0.74 intronic rs8078608 MGAT5B AU NM_001199172 exon11 c.63746+74C>T 0.466853 0.63 Uncertain 17_74929442_A->G 17 74929442 74929442 A G snp 828.77 0/1 99 76 43 33 0.43 intronic rs12600695 MGAT5B AU NM_001199172 exon11 c.63746+585A>G 0.46885 0.626 Uncertain 17_74936576_G->A 17 74936576 74936576 G A snp 3220.76 0/1 99 249 112 137 0.55 exonic rs8081793 MGAT5B AU synonymous SNV NM_198955 exon12 c.G1704A p.P568P 0.264976 0.371 0.252191 0.2567 0.3607 Uncertain 17_74937066_C->G 17 74937066 74937066 C G snp 239.77 0/1 92 12 3 9 0.75 intronic rs9900337 MGAT5B AU NM_001199172 exon14 c.71819+136C>G 0.264976 0.369 Uncertain 17_74942478_C->T 17 74942478 74942478 C T snp 1909.77 0/1 99 141 62 79 0.56 exonic rs8067984 MGAT5B AU synonymous SNV NM_198955 exon14 c.C1896T p.Y632Y 0.35623 0.5357 0.347686 0.3779 0.5615 Uncertain 17_74944709_T->C 17 74944709 74944709 T C snp 6658.77 1/1 99 250 0 250 1.0 intronic rs9894270 MGAT5B AU NM_001199172 exon17 c.79610-12T>C 0.917133 0.9137 0.937779 0.9443 0.9010 Uncertain 17_75085227_C->- 17 75085227 75085227 C - indel 1710.73 1/1 99 46 0 46 1.0 ncRNA_intronic rs3214724 SNHG20 AU 0.561901 0.6151 Uncertain 17_75085260_C->G 17 75085260 75085260 C G snp 3174.77 1/1 99 104 0 104 1.0 ncRNA_exonic rs2247814 SNHG20 AU 0.558706 0.6151 Uncertain 17_75085434_G->A 17 75085434 75085434 G A snp 6708.77 1/1 99 230 0 230 1.0 ncRNA_exonic rs2678770 SCARNA16 AU 0.561901 0.6151 0.589815 0.5172 0.6263 Uncertain 17_75190846_A->C 17 75190846 75190846 A C snp 3182.76 1/1 99 120 0 120 1.0 exonic rs673918 SEC14L1 AU nonsynonymous SNV NM_001144001 exon5 c.A460C p.T154P 0.988019 1 0.986237 0.9964 1 0.71 T 0.000 P -0.977 T 0.0 T 0.003 T Pathogenic 17_75190962_C->T 17 75190962 75190962 C T snp 1140.77 0/1 99 131 78 53 0.4 exonic rs674402 SEC14L1 AU synonymous SNV NM_001144001 exon5 c.C576T p.S192S 0.358227 0.3433 0.353990 0.3672 0.3617 Uncertain 17_75207966_A->G 17 75207966 75207966 A G snp 114.77 0/1 99 9 4 5 0.56 intronic rs2280269 SEC14L1 AU NM_001144001 exon13 c.21108-65A>G 0.638778 0.6607 Uncertain 17_75209816_G->C 17 75209816 75209816 G C snp 1914.77 0/1 99 172 90 82 0.48 intronic rs78521769 SEC14L1 AU NM_001144001 exon15 c.23076-183G>C 0.100839 0.252 0.0856 0.3966 Uncertain 17_75303298_T->C 17 75303298 75303298 T C snp 3659.77 1/1 99 121 0 121 1.0 intergenic rs4789439 SEC14L1 AU 0.91873 0.9901 0.862330 0.8853 0.9904 Uncertain 17_75393267_C->A 17 75393267 75393267 C A snp 1281.77 1/1 90 53 0 53 1.0 intronic rs434143 SEPT9 AU,AD NM_006640 exon2 c.81732-4873C>A 0.357628 0.6617 Uncertain 17_75478481_C->T 17 75478481 75478481 C T snp 2511.77 0/1 99 249 134 115 0.46 intronic rs425139 SEPT9 AU,AD NM_006640 exon3 c.162009+64C>T 0.613818 0.5079 0.6024 0.6077 Uncertain 17_75483719_A->G 17 75483719 75483719 A G snp 110.77 0/1 99 11 7 4 0.36 intronic rs9902607 SEPT9 AU,AD NM_006640 exon4 c.167226+85A>G 0.513978 0.4504 Uncertain 17_75484156_C->T 17 75484156 75484156 C T snp 255.77 0/1 99 16 8 8 0.5 intronic rs441670 SEPT9 AU,AD NM_006640 exon5 c.167913-165C>T 0.548123 0.4931 Uncertain 17_75484201_C->- 17 75484201 75484201 C - indel 1305.73 0/1 99 65 27 38 0.58 intronic rs35261301 SEPT9 AU,AD NM_006640 exon5 c.167913-120delC 0.516773 0.4931 Uncertain 17_75484700_A->G 17 75484700 75484700 A G snp 732.77 0/1 99 41 17 24 0.59 intronic rs378578 SEPT9 AU,AD NM_006640 exon6 c.168400-108A>G 0.582268 0.5179 Uncertain 17_75484781_T->C 17 75484781 75484781 T C snp 2515.77 0/1 99 182 82 100 0.55 intronic rs370531 SEPT9 AU,AD NM_006640 exon6 c.168400-27T>C 0.558506 0.4931 0.595722 0.4940 0.5327 Uncertain 17_75485014_A->C 17 75485014 75485014 A C snp 751.77 0/1 99 52 26 26 0.5 intronic rs426885 SEPT9 AU,AD NM_006640 exon6 c.168538+68A>C 0.548722 0.4931 Uncertain 17_75488973_C->T 17 75488973 75488973 C T snp 1379.77 0/1 99 84 32 52 0.62 intronic rs2627198 SEPT9 AU,AD NM_006640 exon9 c.172653-88C>T 0.515775 0.4931 Uncertain 17_75489015_T->C 17 75489015 75489015 T C snp 2143.77 0/1 99 156 68 88 0.56 intronic rs188747 SEPT9 AU,AD NM_006640 exon9 c.172653-46T>C 0.510583 0.4931 0.543009 0.5175 0.5277 Uncertain 17_75489216_C->T 17 75489216 75489216 C T snp 1050.77 0/1 99 88 43 45 0.51 intronic rs312797 SEPT9 AU,AD NM_006640 exon9 c.172750+58C>T 0.515775 0.4931 Uncertain 17_75489244_A->G 17 75489244 75489244 A G snp 812.77 0/1 99 55 27 28 0.51 intronic rs167498 SEPT9 AU,AD NM_006640 exon9 c.172750+86A>G 0.516374 0.4931 Uncertain 17_75489282_-->A 17 75489282 75489282 - A indel 393.73 0/1 99 27 14 13 0.48 intronic rs397687537 SEPT9 AU,AD NM_006640 exon9 c.172750+124insA 0.510383 0.4931 Uncertain 17_75494705_A->G 17 75494705 75494705 A G snp 978.77 1/1 69 42 0 42 1.0 exonic rs2627223 SEPT9 AU,AD nonsynonymous SNV NM_006640 exon11 c.A1672G p.M558V 0.90655 1 0.892325 0.9371 0.9992 1 T 0.0 P -0.966 T 0.001 T 0.0 T Pathogenic 17_75494746_A->G 17 75494746 75494746 A G snp 735.77 1/1 54 33 0 33 1.0 UTR3 rs1059485 SEPT9 AU,AD 0.561701 0.9177 0.393670 0.5267 0.8998 Uncertain 17_75495065_T->C 17 75495065 75495065 T C snp 4247.77 1/1 99 156 0 156 1.0 UTR3 rs448203 SEPT9 AU,AD 0.699281 0.9325 0.6119 0.9118 0.0 P Uncertain 17_75495397_T->C 17 75495397 75495397 T C snp 3543.77 1/1 99 125 0 125 1.0 UTR3 rs9038 SEPT9 AU,AD 0.629393 0.9355 0.418528 0.5501 0.9231 0.01 T 0.000 P -1.028 T Uncertain 17_75834770_A->G 17 75834770 75834770 A G snp 783.77 0/1 99 77 43 34 0.44 intergenic rs9910282 LOC100132174 AU 0.397165 0.3423 0.390928 0.4765 0.4508 Uncertain 17_76087407_-->A 17 76087407 76087407 - A indel 98.73 0/1 99 27 16 11 0.41 intronic rs397951200 TNRC6C AU NM_001142640 exon15 c.42377-113insA Uncertain 17_76098518_G->A 17 76098518 76098518 G A snp 564.77 0/1 99 83 53 30 0.36 intronic rs34988207 TNRC6C AU NM_001142640 exon20 c.53411-36G>A 0.00599042 0.001 0.016771 0.0262 0 Uncertain 17_76114963_C->G 17 76114963 76114963 C G snp 440.77 1/1 33 16 0 16 1.0 intronic rs2748430 TMC6 AR NM_007267 exon6 c.5823-88C>G 0.607628 0.6865 Uncertain 17_76114975_G->T 17 76114975 76114975 G T snp 536.77 1/1 39 21 0 21 1.0 intronic rs2748429 TMC6 AR NM_007267 exon6 c.5823-76G>T 0.60603 0.6865 Uncertain 17_76115353_T->C 17 76115353 76115353 T C snp 2659.77 1/1 99 90 0 90 1.0 intronic rs2748428 TMC6 AR NM_007267 exon7 c.6149-24T>C 0.758786 0.8571 0.621944 0.6211 0.8348 Uncertain 17_76115479_T->- 17 76115479 76115479 T - indel 6266.73 1/1 99 142 1 141 0.99 splicing rs3841687 TMC6 AR NM_007267 exon7 c.6245+6delT 0.102236 0.2331 0.032668 0.0817 0.2327 Pathogenic 17_76116496_C->T 17 76116496 76116496 C T snp 583.77 0/1 99 48 20 28 0.58 intronic rs150155192 TMC6 AR NM_007267 exon8 c.7505-237C>T 0.048123 0.1022 Uncertain 17_76117361_T->C 17 76117361 76117361 T C snp 31.77 0/1 60 8 5 3 0.38 intronic rs2073285 TMC6 AR NM_007267 exon9 c.8017+116T>C 0.79393 0.6597 Uncertain 17_76117971_G->A 17 76117971 76117971 G A snp 1259.77 0/1 99 69 24 45 0.65 intronic rs1997978 TMC6 AR NM_007267 exon10 c.8564+179G>A 0.801118 0.6696 Uncertain 17_76120065_A->G 17 76120065 76120065 A G snp 917.77 0/1 99 113 67 46 0.41 splicing rs2613522 TMC6 AR NM_007267 exon12 c.10841-4A>G 0.473642 0.506 0.390973 0.3484 0.4864 Pathogenic 17_76121031_C->T 17 76121031 76121031 C T snp 768.77 0/1 99 53 22 31 0.58 exonic rs34712518 TMC6 AR nonsynonymous SNV NM_007267 exon7 c.G572A p.G191D 0.103834 0.1161 0.092107 0.1085 0.1368 0.2 T 0.000 P -1.087 T 0.008 T 0.01 T Pathogenic 17_76121318_G->A 17 76121318 76121318 G A snp 905.77 0/1 99 84 40 44 0.52 exonic rs12449858 TMC6 AR nonsynonymous SNV NM_007267 exon6 c.C457T p.L153F 0.105032 0.2063 0.070790 0.1842 0.3486 0.02 T 1.0 P -1.066 T 1.0 D 0.989 D ID=CM152561;DIS=Psoriasis, association with;TAG=DP;PUB=25854761 DP Pathogenic 17_76121864_A->G 17 76121864 76121864 A G snp 1572.77 0/1 99 152 82 70 0.46 exonic rs2748427 TMC6 AR nonsynonymous SNV NM_007267 exon5 c.T373C p.W125R 0.334864 0.2907 0.273203 0.3212 0.3669 1 T 1.0 P -0.913 T 0.0 T 0.0 T Pathogenic 17_76129360_C->T 17 76129360 76129360 C T snp 665.77 0/1 99 52 26 26 0.5 intronic rs9889313 TMC8 AR NM_152468 exon6 c.1817-126C>T 0.195288 0.1438 Uncertain 17_76130575_A->T 17 76130575 76130575 A T snp 6816.77 1/1 99 250 0 250 1.0 exonic rs7208422 TMC8 AR nonsynonymous SNV NM_152468 exon8 c.A917T p.N306I 0.552316 0.4236 0.555897 0.5148 0.4293 0.56 T 0.000 P -0.941 T 0.0 T 0.0 T ID=CM091876;DIS=Epidermodysplasia verruciformis, susceptibility in HIV, association;TAG=DP;PUB=19005244 DP Pathogenic 17_76130947_G->T 17 76130947 76130947 G T snp 473.77 0/1 99 49 28 21 0.43 splicing rs62079073 TMC8 AR NM_152468 exon9 c.3281-3G>T 0.0776757 0.0804 0.082731 0.0783 0.0968 Pathogenic 17_76131070_G->A 17 76131070 76131070 G A snp 4918.77 1/1 99 183 0 183 1.0 exonic rs12452890 TMC8 AR synonymous SNV NM_152468 exon9 c.G1107A p.E369E 0.540335 0.3938 0.576503 0.5343 0.4197 Uncertain 17_76133693_C->T 17 76133693 76133693 C T snp 334.78 1/1 27 11 0 11 1.0 intronic rs55694641 TMC8 AR NM_152468 exon11 c.6128-104C>T 0.171925 0.2143 Uncertain 17_76133746_A->G 17 76133746 76133746 A G snp 1026.77 1/1 75 32 0 32 1.0 intronic rs12449680 TMC8 AR NM_152468 exon11 c.6128-51A>G 0.375998 0.3968 0.286214 Uncertain 17_76134828_C->A 17 76134828 76134828 C A snp 2316.77 1/1 99 77 0 77 1.0 intronic rs7221365 TMC8 AR NM_152468 exon14 c.7144+15C>A 0.601837 0.4167 0.623020 0.5816 0.4487 Uncertain 17_76135412_G->T 17 76135412 76135412 G T snp 96.28 1/1 9 3 0 3 1.0 intronic rs17773854 TMC8 AR NM_152468 exon15 c.7652+91G>T 0.366414 0.2312 Uncertain 17_76137198_T->G 17 76137198 76137198 T G snp 218.84 1/1 18 6 0 6 1.0 UTR3 rs369764 TMC8 AR 0.998602 1 0.995282 0.9955 1 Uncertain 17_76142402_G->A 17 76142402 76142402 G A snp 406.77 1/1 30 17 0 17 1.0 upstream rs2310998 C17orf99 AU 0.543331 0.2768 Uncertain 17_76142795_G->A 17 76142795 76142795 G A snp 211.77 0/1 99 25 15 10 0.4 intronic rs748708 C17orf99 AU NM_001163075 exon2 c.471-164G>A 0.118411 0.1111 Uncertain 17_76143009_G->A 17 76143009 76143009 G A snp 977.77 0/1 99 68 23 45 0.66 intronic rs7217374 C17orf99 AU NM_001163075 exon2 c.504+17G>A 0.383187 0.1369 0.4641 0.1597 Uncertain 17_76156344_C->T 17 76156344 76156344 C T snp 74.77 0/1 99 6 3 3 0.5 intronic rs34983589 C17orf99 AU NM_001163075 exon3 c.14547-691C>T 0.177117 0.1954 Uncertain 17_76157266_T->C 17 76157266 76157266 T C snp 4535.77 1/1 99 159 0 159 1.0 exonic rs4071641 C17orf99 AU nonsynonymous SNV NM_001163075 exon3 c.T301C p.W101R 0.751398 0.6677 0.6931 0.6987 1 T 0.000 P -0.974 T 0.0 T 0.0 T Pathogenic 17_76157271_G->A 17 76157271 76157271 G A snp 1629.77 0/1 99 146 72 74 0.51 exonic rs72898212 C17orf99 AU synonymous SNV NM_001163075 exon3 c.G306A p.A102A 0.1248 0.2937 0.048182 0.1161 0.2853 Uncertain 17_76157343_C->A 17 76157343 76157343 C A snp 764.77 0/1 99 51 24 27 0.53 intronic rs72898214 C17orf99 AU NM_001163075 exon3 c.14847+8C>A 0.229034 0.4177 0.115418 0.1614 0.4231 Uncertain 17_76157348_G->A 17 76157348 76157348 G A snp 496.77 0/1 99 43 24 19 0.44 intronic rs12951279 C17orf99 AU NM_001163075 exon3 c.14847+13G>A 0.164537 0.2192 0.116075 0.1572 0.2476 Uncertain 17_76160881_C->A 17 76160881 76160881 C A snp 88.28 1/1 9 3 0 3 1.0 intronic rs2292235 C17orf99 AU NM_001163075 exon4 c.17957+436C>A 0.604034 0.6587 Uncertain 17_76166689_C->A 17 76166689 76166689 C A snp 56.74 1/1 6 2 0 2 1.0 intronic rs4583318 SYNGR2 AU NM_004710 exon2 c.2200-208C>A 0.503195 0.5109 0.4707 0.5296 Uncertain 17_76170830_C->T 17 76170830 76170830 C T snp 1878.77 1/1 99 62 0 62 1.0 UTR3 rs1065768 TK1 AU 0.318291 0.4286 0.177290 0.3144 0.5225 Uncertain 17_76171330_C->T 17 76171330 76171330 C T snp 935.77 1/1 69 34 0 34 1.0 intronic rs2854702 TK1 AU NM_003258 exon2 c.411+80C>T 0.31849 0.4276 Uncertain 17_76178748_T->C 17 76178748 76178748 T C snp 2897.77 1/1 99 106 0 106 1.0 exonic rs1143697 TK1 AU synonymous SNV NM_003258 exon4 c.A225G p.A75A 0.682109 0.622 0.571583 0.6099 0.6700 Uncertain 17_76182766_A->G 17 76182766 76182766 A G snp 35.77 0/1 64 4 2 2 0.5 intronic rs555322756 TK1 AU NM_003258 exon6 c.12028-101A>G Uncertain 17_76183043_A->G 17 76183043 76183043 A G snp 2570.77 0/1 99 199 94 105 0.53 exonic rs1071664 TK1 AU synonymous SNV NM_003258 exon1 c.T33C p.P11P 0.553115 0.5873 0.464523 0.5302 0.6711 Uncertain 17_76198458_C->T 17 76198458 76198458 C T snp 238.77 0/1 99 18 8 10 0.56 intronic rs11649894 AFMID AU NM_001145526 exon3 c.15128-121C>T 0.326877 0.1498 Uncertain 17_76198754_T->C 17 76198754 76198754 T C snp 2636.77 1/1 99 96 0 96 1.0 intronic rs35822441 AFMID AU NM_001145526 exon4 c.15332-29T>C 0.754992 0.6885 0.680316 0.7234 0.7581 Uncertain 17_76210367_G->C 17 76210367 76210367 G C snp 1870.77 0/1 99 153 73 80 0.52 UTR5 rs9904341 BIRC5 AU 0.388578 0.5288 0.311505 0.4671 0.5852 ID=CR087414;DIS=Lung cancer, lower risk, association with;TAG=DFP;PUB=17961802 DFP Uncertain 17_76211079_T->C 17 76211079 76211079 T C snp 273.77 0/1 99 24 14 10 0.42 intronic rs4789551 BIRC5 AU NM_001168 exon2 c.473+209T>C 0.119609 0.0972 Uncertain 17_76218720_A->T 17 76218720 76218720 A T snp 50.74 1/1 6 2 0 2 1.0 intronic rs2661693 BIRC5 AU NM_001168 exon4 c.9148-825A>T 0.628395 0.6071 Uncertain 17_76218857_G->A 17 76218857 76218857 G A snp 2720.77 1/1 99 101 0 101 1.0 intronic rs4789559 BIRC5 AU NM_001168 exon4 c.9148-688G>A 0.390176 0.3442 Uncertain 17_76219591_G->A 17 76219591 76219591 G A snp 1700.77 1/1 99 65 0 65 1.0 exonic rs2071214 BIRC5 AU nonsynonymous SNV NM_001168 exon4 c.G385A p.E129K 0.929113 0.7728 0.965862 0.9359 0.7843 1 T 0.000 P -0.986 T 0.0 T 0.001 T Pathogenic 17_76228088_T->A 17 76228088 76228088 T A snp 310.78 1/1 24 12 0 12 1.0 UTR5 rs8068943 TMEM235 AU 1 . Uncertain 17_76235015_G->A 17 76235015 76235015 G A snp 571.77 0/1 99 52 30 22 0.42 intronic rs880190 TMEM235 AU NM_001204212 exon3 c.7000-89G>A 0.440096 0.3343 Uncertain 17_76267779_A->C 17 76267779 76267779 A C snp 1771.77 0/1 99 159 85 74 0.47 ncRNA_exonic rs872358 LOC100996291 AU 0.153754 0.1796 0.1358 0.1392 0 D -1.057 T Uncertain 17_76354380_T->G 17 76354380 76354380 T G snp 481.77 0/1 99 38 21 17 0.45 UTR3 rs2280148 SOCS3 AU 0.0746805 0.1994 Uncertain 17_76394195_T->C 17 76394195 76394195 T C snp 5599.77 1/1 99 203 0 203 1.0 intronic rs2292645 PGS1 AU NM_024419 exon4 c.19586-137T>C 0.203674 0.2212 0.3030 0.3360 Uncertain 17_76400251_C->G 17 76400251 76400251 C G snp 773.77 1/1 60 23 0 23 1.0 intronic rs3744218 PGS1 AU NM_024419 exon7 c.25424+81C>G 0.203674 0.2222 Uncertain 17_76410871_G->A 17 76410871 76410871 G A snp 3323.77 1/1 99 123 0 123 1.0 intronic rs3744216 PGS1 AU NM_024419 exon8 c.36213-88G>A 0.807708 0.9157 Uncertain 17_76411154_-->G 17 76411154 76411154 - G indel 744.73 1/1 66 28 0 28 1.0 intronic rs3833108 PGS1 AU NM_024419 exon8 c.36362+46insG 0.694089 0.9405 0.640681 0.7368 0.9277 Uncertain 17_76420074_G->A 17 76420074 76420074 G A snp 2178.77 0/1 99 243 147 96 0.4 exonic rs190586281 DNAH17 AU synonymous SNV NM_173628 exon81 c.C13302T p.P4434P 0.00119808 0.005 0.0009 0.0116 Uncertain 17_76422473_T->C 17 76422473 76422473 T C snp 1451.77 1/1 99 46 0 46 1.0 intronic rs4969188 DNAH17 AU NM_173628 exon3 c.2551-64T>C 0.766174 0.9712 0.7863 0.9758 Uncertain 17_76423097_G->A 17 76423097 76423097 G A snp 4616.77 1/1 99 175 0 175 1.0 exonic rs2271613 DNAH17 AU synonymous SNV NM_173628 exon78 c.C12681T p.Y4227Y 0.684505 0.9425 0.622482 0.7446 0.9356 Uncertain 17_76424482_A->G 17 76424482 76424482 A G snp 1449.77 1/1 99 46 0 46 1.0 intronic rs651806 DNAH17 AU NM_173628 exon5 c.4619-123A>G 0.966853 1 Uncertain 17_76433685_A->G 17 76433685 76433685 A G snp 851.77 1/1 63 24 0 24 1.0 intronic rs2289757 DNAH17 AU NM_173628 exon8 c.13736-37A>G 0.66873 0.8829 0.623842 0.7474 0.8899 Uncertain 17_76433898_T->C 17 76433898 76433898 T C snp 3544.77 1/1 99 130 0 130 1.0 exonic rs12941494 DNAH17 AU nonsynonymous SNV NM_173628 exon74 c.A11858G p.H3953R 0.950879 0.999 0.947154 0.9851 0.9998 1 T 0.000 P -0.931 T 0.0 T 0.0 T Pathogenic 17_76435421_A->G 17 76435421 76435421 A G snp 356.78 1/1 27 11 0 11 1.0 intronic rs77752353 DNAH17 AU NM_173628 exon9 c.15313+122A>G 0.0640974 0.1488 Uncertain 17_76435448_C->T 17 76435448 76435448 C T snp 185.9 1/1 15 7 0 7 1.0 intronic rs12150123 DNAH17 AU NM_173628 exon9 c.15313+149C>T 0.601238 0.8085 Uncertain 17_76446689_A->G 17 76446689 76446689 A G snp 96.28 1/1 9 3 0 3 1.0 intronic rs676696 DNAH17 AU NM_173628 exon15 c.26777-74A>G 0.92512 0.9415 Uncertain 17_76449505_G->C 17 76449505 76449505 G C snp 6512.77 1/1 99 235 0 235 1.0 exonic rs2289751 DNAH17 AU synonymous SNV NM_173628 exon65 c.C10449G p.T3483T 0.466454 0.6042 0.485161 0.5174 0.6277 Uncertain 17_76449517_C->G 17 76449517 76449517 C G snp 1594.77 0/1 99 203 135 68 0.33 exonic rs773220705 DNAH17 AU synonymous SNV NM_173628 exon65 c.G10437C p.S3479S 5.807e-05 0.0008 Uncertain 17_76451921_A->G 17 76451921 76451921 A G snp 1854.77 1/1 99 65 0 65 1.0 splicing rs8069561 DNAH17 AU NM_173628 exon19 c.31932+3A>G 0.935503 0.9911 0.904967 0.9125 0.9860 Pathogenic 17_76456352_T->C 17 76456352 76456352 T C snp 5852.77 1/1 99 221 0 221 1.0 intronic rs623336 DNAH17 AU NM_173628 exon23 c.36353+13T>C 0.999401 0.999 0.998692 0.9991 1 Uncertain 17_76457559_T->G 17 76457559 76457559 T G snp 1543.77 1/1 99 49 0 49 1.0 intronic rs692529 DNAH17 AU NM_173628 exon24 c.37639-66T>G 0.947484 0.9911 Uncertain 17_76457910_G->C 17 76457910 76457910 G C snp 391.77 1/1 30 10 0 10 1.0 intronic rs640292 DNAH17 AU NM_173628 exon24 c.37804+120G>C 0.580272 0.6756 Uncertain 17_76462770_G->A 17 76462770 76462770 G A snp 3836.77 1/1 99 136 0 136 1.0 exonic rs691225 DNAH17 AU synonymous SNV NM_173628 exon56 c.C8907T p.S2969S 0.65016 0.8442 0.670019 0.7312 0.8199 Uncertain 17_76468992_T->C 17 76468992 76468992 T C snp 1354.77 0/1 99 162 96 66 0.41 intronic rs573341513 DNAH17 AU NM_173628 exon28 c.51373-2367T>C 0.000199681 0.001 Uncertain 17_76481997_T->C 17 76481997 76481997 T C snp 639.77 0/1 99 53 29 24 0.45 ncRNA_intronic rs12944880 DNAH17-AS1 AU 0.671526 0.6667 0.654372 0.6878 0.6455 Uncertain 17_76486569_T->C 17 76486569 76486569 T C snp 174.9 1/1 15 5 0 5 1.0 ncRNA_intronic rs691279 DNAH17-AS1 AU 0.972045 0.999 Uncertain 17_76488894_C->T 17 76488894 76488894 C T snp 1621.77 0/1 99 126 60 66 0.52 ncRNA_intronic rs115013583 DNAH17-AS1 AU 0.0593051 0.1012 0.014754 0.0299 0.1074 Uncertain 17_76490083_G->A 17 76490083 76490083 G A snp 507.77 0/1 99 47 30 17 0.36 ncRNA_intronic rs691912 DNAH17-AS1 AU 0.358626 0.4107 0.300322 0.3170 0.4116 Uncertain 17_76490318_-->GGCTGGGG 17 76490318 76490318 - GGCTGGGG indel 5869.73 0/1 99 160 65 95 0.59 ncRNA_intronic rs201388001 DNAH17-AS1 AU 0.00758786 0.0288 Uncertain 17_76491127_T->C 17 76491127 76491127 T C snp 2076.77 1/1 99 70 0 70 1.0 exonic rs691652 DNAH17 AU nonsynonymous SNV NM_173628 exon39 c.A5956G p.M1986V 0.93131 0.9712 0.865268 0.8638 0.9754 1 T 0.185 P -0.929 T Pathogenic 17_76491128_G->C 17 76491128 76491128 G C snp 2058.77 1/1 99 69 0 69 1.0 exonic rs606944 DNAH17 AU synonymous SNV NM_173628 exon39 c.C5955G p.L1985L 0.93131 0.9712 0.864707 0.8634 0.9753 Uncertain 17_76491258_G->A 17 76491258 76491258 G A snp 108.77 0/1 99 8 4 4 0.5 ncRNA_intronic rs9897263 DNAH17-AS1 AU 0.138578 0.2579 Uncertain 17_76495050_C->T 17 76495050 76495050 C T snp 4035.77 1/1 99 164 0 164 1.0 ncRNA_exonic rs691291 DNAH17-AS1 AU 0.915535 0.9702 0.848504 0.8630 0.981 Uncertain 17_76496350_A->C 17 76496350 76496350 A C snp 3796.77 1/1 99 143 0 143 1.0 ncRNA_exonic rs35901117 DNAH17-AS1 AU 0.431909 0.6865 0.350692 0.4650 0.6989 Uncertain 17_76496361_C->G 17 76496361 76496361 C G snp 4170.77 1/1 99 156 0 156 1.0 ncRNA_exonic rs34124297 DNAH17-AS1 AU 0.429113 0.6865 0.344477 0.4622 0.7165 Uncertain 17_76496492_A->G 17 76496492 76496492 A G snp 4158.77 1/1 99 160 0 160 1.0 exonic rs2028734 DNAH17 AU synonymous SNV NM_173628 exon36 c.T5535C p.P1845P 0.929712 0.9702 0.856953 0.8625 0.9770 Uncertain 17_76496577_C->T 17 76496577 76496577 C T snp 2283.77 1/1 99 79 0 79 1.0 ncRNA_exonic rs2028735 DNAH17-AS1 AU 0.896765 0.9702 0.829911 0.8500 0.9763 Uncertain 17_76496665_A->G 17 76496665 76496665 A G snp 301.78 1/1 24 8 0 8 1.0 ncRNA_exonic rs2588550 DNAH17-AS1 AU 0.429313 0.6865 Uncertain 17_76497114_A->G 17 76497114 76497114 A G snp 322.78 1/1 27 9 0 9 1.0 ncRNA_exonic rs691127 DNAH17-AS1 AU 0.93111 0.9702 Uncertain 17_76497778_T->C 17 76497778 76497778 T C snp 3367.77 1/1 99 106 0 106 1.0 ncRNA_exonic rs671899 DNAH17-AS1 AU 0.434305 0.6875 0.349759 0.4003 0.6908 Uncertain 17_76497920_C->A 17 76497920 76497920 C A snp 7099.77 1/1 99 250 0 250 1.0 exonic rs690844 DNAH17 AU nonsynonymous SNV NM_173628 exon34 c.G5226T p.M1742I 0.738818 0.9435 0.642956 0.6823 0.9499 0.58 T 0.012 P -1.025 T Pathogenic 17_76498692_C->T 17 76498692 76498692 C T snp 6119.77 1/1 99 237 0 237 1.0 exonic rs930571 DNAH17 AU nonsynonymous SNV NM_173628 exon33 c.G5171A p.R1724K 0.930911 0.9702 0.862819 0.8652 0.9768 1 T 0.001 P -0.929 T Pathogenic 17_76503624_C->T 17 76503624 76503624 C T snp 6282.77 1/1 99 203 0 203 1.0 exonic rs626439 DNAH17 AU synonymous SNV NM_173628 exon28 c.G4500A p.E1500E 0.323682 0.4583 0.216229 0.2912 0.4697 Uncertain 17_76503678_C->A 17 76503678 76503678 C A snp 2479.77 0/1 99 211 115 96 0.45 exonic rs59853990 DNAH17 AU synonymous SNV NM_173628 exon28 c.G4446T p.A1482A 0.10004 0.1944 0.046293 0.0839 0.1891 Uncertain 17_76511271_G->A 17 76511271 76511271 G A snp 37.77 0/1 66 6 4 2 0.33 intronic rs691710 DNAH17 AU NM_173628 exon56 c.91118+167G>A 0.295927 0.4623 Uncertain 17_76521349_C->A 17 76521349 76521349 C A snp 257.77 0/1 99 17 8 9 0.53 intronic rs75793624 DNAH17 AU NM_173628 exon57 c.101257+106C>A 0.236821 0.4722 Uncertain 17_76522895_C->T 17 76522895 76522895 C T snp 455.77 0/1 99 35 18 17 0.49 intronic rs117792178 DNAH17 AU NM_173628 exon59 c.102975-66C>T 0.0111821 0.0427 Uncertain 17_76525475_T->G 17 76525475 76525475 T G snp 559.77 0/1 99 37 15 22 0.59 intronic rs884714 DNAH17 AU NM_173628 exon60 c.105567-78T>G 0.595048 0.5933 Uncertain 17_76525565_A->G 17 76525565 76525565 A G snp 1962.77 0/1 99 164 75 89 0.54 exonic rs4273108 DNAH17 AU synonymous SNV NM_173628 exon22 c.T3496C p.L1166L 0.595048 0.5933 0.626563 0.5904 0.6044 Uncertain 17_76525805_C->G 17 76525805 76525805 C G snp 1774.77 0/1 99 112 48 64 0.57 intronic rs4969212 DNAH17 AU NM_173628 exon60 c.105790+29C>G 0.59405 0.5933 0.625021 0.5946 0.6076 Uncertain 17_76525864_G->A 17 76525864 76525864 G A snp 515.77 0/1 99 26 9 17 0.65 intronic rs4597380 DNAH17 AU NM_173628 exon60 c.105790+88G>A 0.309305 0.4325 Uncertain 17_76525901_T->C 17 76525901 76525901 T C snp 40.77 0/1 69 5 3 2 0.4 intronic rs4246439 DNAH17 AU NM_173628 exon60 c.105790+125T>C 0.59405 0.5942 Uncertain 17_76528591_C->T 17 76528591 76528591 C T snp 591.77 0/1 99 47 21 26 0.55 exonic rs11868065 DNAH17 AU synonymous SNV NM_173628 exon20 c.G3087A p.P1029P 0.460663 0.4167 0.526253 0.5101 0.4414 Uncertain 17_76528790_A->G 17 76528790 76528790 A G snp 415.77 0/1 99 48 30 18 0.38 exonic rs11651537 DNAH17 AU nonsynonymous SNV NM_173628 exon20 c.T2888C p.I963T 0.458866 0.4157 0.520745 0.5236 0.4663 0.52 T 0.0 P -0.926 T Pathogenic 17_76528831_G->A 17 76528831 76528831 G A snp 242.77 0/1 99 35 23 12 0.34 intronic rs11077379 DNAH17 AU NM_173628 exon62 c.108832+13G>A 0.474241 0.4702 0.520533 0.5299 0.5076 Uncertain 17_76533269_-->AAAG 17 76533269 76533269 - AAAG indel 1106.73 0/1 99 41 14 27 0.66 intronic rs111781371 DNAH17 AU NM_173628 exon63 c.113394-111insAAAG 0.579872 0.5506 Uncertain 17_76535759_T->C 17 76535759 76535759 T C snp 389.77 0/1 99 18 5 13 0.72 intronic rs7220871 DNAH17 AU NM_173628 exon64 c.115832-59T>C 0.644569 0.6488 Uncertain 17_76535948_T->C 17 76535948 76535948 T C snp 1024.77 0/1 99 107 61 46 0.43 exonic rs7221209 DNAH17 AU synonymous SNV NM_173628 exon18 c.A2547G p.L849L 0.738019 0.7381 0.764148 0.7506 0.7522 Uncertain 17_76554114_A->G 17 76554114 76554114 A G snp 1834.77 0/1 99 141 69 72 0.51 intronic rs62075923 DNAH17 AU NM_173628 exon68 c.134203-75A>G 0.525958 0.5883 Uncertain 17_76554147_A->G 17 76554147 76554147 A G snp 2813.77 0/1 99 220 105 115 0.52 intronic rs4969171 DNAH17 AU NM_173628 exon68 c.134203-42A>G 0.655551 0.6895 0.660541 0.6622 0.6785 Uncertain 17_76556811_C->T 17 76556811 76556811 C T snp 237.77 0/1 99 25 17 8 0.32 intronic rs78321431 DNAH17 AU NM_173628 exon69 c.136835-10C>T 0.347644 0.4038 0.298071 0.4355 0.4195 Uncertain 17_76557862_T->C 17 76557862 76557862 T C snp 3738.77 1/1 99 120 1 119 0.99 exonic rs894966 DNAH17 AU synonymous SNV NM_173628 exon12 c.A1770G p.K590K 0.940096 0.9236 0.951176 0.9462 0.9063 Uncertain 17_76557943_G->A 17 76557943 76557943 G A snp 2307.77 0/1 99 235 125 110 0.47 exonic rs1108366 DNAH17 AU synonymous SNV NM_173628 exon12 c.C1689T p.Y563Y 0.141174 0.2897 0.127787 0.1536 0.2905 Uncertain 17_76558159_T->C 17 76558159 76558159 T C snp 839.77 1/1 63 22 0 22 1.0 intronic rs2376587 DNAH17 AU NM_173628 exon70 c.138076+97T>C 0.999401 1 Uncertain 17_76565341_G->A 17 76565341 76565341 G A snp 2004.77 0/1 99 165 77 88 0.53 intronic rs72920970 DNAH17 AU NM_173628 exon73 c.145348+7G>A 0.285942 0.2956 0.291173 0.3618 0.3415 Uncertain 17_76566964_AAAAG->- 17 76566964 76566968 AAAAG - indel 234.73 0/1 99 10 5 5 0.5 intronic DNAH17 AU NM_173628 exon76 c.147043-65_147043-61delAAAAG 0.229854 Uncertain 17_76567013_C->T 17 76567013 76567013 C T snp 1115.77 0/1 99 95 47 48 0.51 intronic rs12948559 DNAH17 AU NM_173628 exon76 c.147043-16C>T 0.292732 0.3194 0.289109 0.3856 0.4134 Uncertain 17_76567332_C->A 17 76567332 76567332 C A snp 358.77 0/1 99 30 18 12 0.4 intronic rs12949510 DNAH17 AU NM_173628 exon77 c.147374-28C>A 0.321286 0.3413 0.300078 0.3798 0.3936 Uncertain 17_76567707_T->C 17 76567707 76567707 T C snp 2801.77 1/1 99 106 0 106 1.0 exonic rs894968 DNAH17 AU nonsynonymous SNV NM_173628 exon4 c.A697G p.T233A 0.989018 0.999 0.972209 0.9784 0.9990 0.84 T 0.0 P -0.993 T Pathogenic 17_76567883_G->C 17 76567883 76567883 G C snp 428.77 0/1 99 36 18 18 0.5 intronic rs4969148 DNAH17 AU NM_173628 exon78 c.147878+19G>C 0.289736 0.3214 0.291097 0.3413 0.3212 Uncertain 17_76567910_G->A 17 76567910 76567910 G A snp 221.77 0/1 99 19 11 8 0.42 intronic rs4969149 DNAH17 AU NM_173628 exon78 c.147878+46G>A 0.351438 0.3383 0.348692 0.3610 0.3448 Uncertain 17_76568716_G->T 17 76568716 76568716 G T snp 148.77 0/1 63 8 3 5 0.63 intronic rs8073667 DNAH17 AU NM_173628 exon79 c.148796-66G>T 0.296126 0.5308 Uncertain 17_76569056_G->T 17 76569056 76569056 G T snp 143.77 0/1 99 12 6 6 0.5 intronic rs12951733 DNAH17 AU NM_173628 exon79 c.148990+80G>T 0.325479 0.5278 Uncertain 17_76570771_G->A 17 76570771 76570771 G A snp 249.77 0/1 99 21 13 8 0.38 intronic rs12946156 DNAH17 AU NM_173628 exon80 c.150808-23G>A 0.291134 0.499 0.189305 0.2619 0.5148 Uncertain 17_76571269_A->C 17 76571269 76571269 A C snp 31.77 0/1 60 9 7 2 0.22 intronic rs9903478 DNAH17 AU NM_173628 exon80 c.151178+105A>C 0.402356 0.5506 Uncertain 17_76672903_G->A 17 76672903 76672903 G A snp 718.77 0/1 99 41 15 26 0.63 intronic rs4796806 CYTH1 AU NM_017456 exon1 c.79+652G>A 0.00638978 0.0208 Uncertain 17_76698146_T->C 17 76698146 76698146 T C snp 210.77 0/1 99 21 13 8 0.38 intronic rs78994692 CYTH1 AU NM_017456 exon9 c.26031-57T>C 0.0265575 0.12 ID=COSN165538;OCCURENCE=1(NS) Uncertain 17_76794774_T->C 17 76794774 76794774 T C snp 604.77 0/1 99 31 12 19 0.61 intronic rs3744799 USP36 AU NM_025090 exon1 c.132+141T>C 0.545727 0.623 Uncertain 17_76794981_A->G 17 76794981 76794981 A G snp 2079.77 0/1 99 215 122 93 0.43 intronic rs2279308 USP36 AU NM_025090 exon2 c.488-8A>G 0.540735 0.62 0.543980 0.5572 0.6049 Uncertain 17_76795805_G->C 17 76795805 76795805 G C snp 1462.77 0/1 99 141 80 61 0.43 exonic rs75462245 USP36 AU nonsynonymous SNV NM_025090 exon18 c.C3068G p.S1023C 0.0255591 0.1171 0.000769 0.0106 0.1160 0.11 T 0.0 P -1.083 T 0.023 T 0.023 T Pathogenic 17_76798371_C->T 17 76798371 76798371 C T snp 131.77 0/1 99 9 4 5 0.56 intronic rs2306525 USP36 AU NM_025090 exon4 c.3904-34C>T 0.0259585 0.119 0.000707 0.0077 0.1194 Uncertain 17_76798700_G->A 17 76798700 76798700 G A snp 36.77 0/1 65 12 8 4 0.33 intronic rs57490171 USP36 AU NM_025090 exon4 c.4116+83G>A 0.0259585 0.119 Uncertain 17_76799835_C->A 17 76799835 76799835 C A snp 365.77 0/1 99 55 34 21 0.38 exonic rs3744797 USP36 AU nonsynonymous SNV NM_025090 exon16 c.G2442T p.K814N 0.0253594 0.1161 0.000698 0.0112 0.1146 0.1 T 0.000 P -1.073 T 0.023 T 0.027 T Pathogenic 17_76799860_T->C 17 76799860 76799860 T C snp 439.77 0/1 99 62 41 21 0.34 exonic rs3088040 USP36 AU nonsynonymous SNV NM_025090 exon16 c.A2417G p.Q806R 0.570288 0.6111 0.553902 0.5500 0.6002 0.56 T 0.000 P -0.949 T 0.0 T 0.001 T Pathogenic 17_76799898_A->G 17 76799898 76799898 A G snp 521.77 0/1 99 66 42 24 0.36 exonic rs9302885 USP36 AU synonymous SNV NM_025090 exon16 c.T2379C p.S793S 0.566294 0.6081 0.554878 0.5479 0.6 Uncertain 17_76816199_G->A 17 76816199 76816199 G A snp 838.77 0/1 99 85 48 37 0.44 intronic rs7222131 USP36 AU NM_025090 exon12 c.21593+105G>A 0.215256 0.1696 Uncertain 17_76817939_C->T 17 76817939 76817939 C T snp 1337.77 0/1 99 113 55 58 0.51 intronic rs74833171 USP36 AU NM_025090 exon14 c.23517-79C>T 0.0239617 0.1111 Uncertain 17_76823227_T->G 17 76823227 76823227 T G snp 1409.77 0/1 99 110 54 56 0.51 intronic rs3744792 USP36 AU NM_025090 exon15 c.28825-99T>G 0.0267572 0.125 0.0090 0.175 Uncertain 17_76823260_A->C 17 76823260 76823260 A C snp 1123.77 0/1 99 82 40 42 0.51 intronic rs3744791 USP36 AU NM_025090 exon15 c.28825-66A>C 0.0267572 0.125 0.0222 0.2703 Uncertain 17_76867185_G->T 17 76867185 76867185 G T snp 383.77 0/1 99 30 14 16 0.53 intronic rs55743137 TIMP2 AU NM_003255 exon3 c.15340+97G>T 0.646166 0.5308 Uncertain 17_76897733_G->T 17 76897733 76897733 G T snp 768.77 1/1 57 25 0 25 1.0 intronic rs12941365 KIAA1731NL AU NM_001243541 exon2 c.11147-133G>T 0.444688 0.2649 Uncertain 17_76897974_C->T 17 76897974 76897974 C T snp 1039.77 1/1 75 34 0 34 1.0 UTR5 rs4789936 KIAA1731NL AU 0.440695 0.2659 Uncertain 17_76970879_A->G 17 76970879 76970879 A G snp 3836.77 1/1 99 150 0 150 1.0 exonic rs3744166 LGALS3BP AU synonymous SNV NM_005567 exon4 c.T267C p.D89D 0.920128 0.8194 0.987544 0.9529 0.8247 1.000 P Uncertain 17_77039835_G->A 17 77039835 77039835 G A snp 1282.77 0/1 99 119 70 49 0.41 intronic rs386462331 C1QTNF1 AU 0.53734 0.6726 0.4259 0.6697 Uncertain 17_77039852_G->A 17 77039852 77039852 G A snp 1541.77 0/1 99 154 90 64 0.42 intronic rs4789854 C1QTNF1 AU 0.516374 0.6726 0.4332 0.6724 Uncertain 17_77040128_T->C 17 77040128 77040128 T C snp 841.77 0/1 99 85 50 35 0.41 exonic rs4789922 C1QTNF1 AU synonymous SNV NM_030968 exon2 c.T78C p.R26R 0.317292 0.5248 0.193372 0.2561 0.5392 Uncertain 17_77040185_G->C 17 77040185 77040185 G C snp 301.77 0/1 99 43 26 17 0.4 exonic rs4789853 C1QTNF1 AU synonymous SNV NM_030968 exon2 c.G135C p.S45S 0.459864 0.5387 0.369599 0.3899 0.5592 Uncertain 17_77042718_C->T 17 77042718 77042718 C T snp 1019.77 0/1 99 109 64 45 0.41 exonic rs11077409 C1QTNF1 AU synonymous SNV NM_030968 exon3 c.C237T p.P79P 0.325679 0.5704 0.180686 0.2526 0.5740 Uncertain 17_77043574_T->C 17 77043574 77043574 T C snp 255.77 0/1 99 26 16 10 0.38 intronic rs11077410 C1QTNF1 AU NM_030968 exon4 c.3569-45T>C 0.361022 0.5724 0.212522 0.2665 0.5755 Uncertain 17_77071002_C->G 17 77071002 77071002 C G snp 545.77 0/1 99 38 16 22 0.58 upstream rs8076010 ENGASE AU 0.392772 0.5724 0.214412 0.4110 0.6397 Uncertain 17_77071040_C->A 17 77071040 77071040 C A snp 575.77 0/1 99 44 18 26 0.59 exonic rs56107536 ENGASE AU nonsynonymous SNV NM_001042573 exon1 c.C14A p.A5E 0.164337 0.2917 0.084638 0.2774 0.3807 0.09 T 0.612 P -1.013 T 0.698 T 0.478 P Pathogenic 17_77076926_CT->- 17 77076926 77076927 CT - indel 486.73 0/1 99 28 17 11 0.39 intronic rs3833105 ENGASE AU NM_001042573 exon6 c.5980-80_5980-79delCT 0.0465256 0.2034 Uncertain 17_77097811_G->C 17 77097811 77097811 G C snp 790.77 0/1 99 59 29 30 0.51 intronic rs2612798 RBFOX3 AU NM_001082575 exon7 c.10762+85G>C 0.401158 0.2986 Uncertain 17_77099116_C->G 17 77099116 77099116 C G snp 83.77 0/1 67 5 2 3 0.6 intronic rs7208334 RBFOX3 AU NM_001082575 exon8 c.12279-127C>G 0.533347 0.4196 Uncertain 17_77102966_-->C 17 77102966 77102966 - C indel 674.73 1/1 57 20 0 20 1.0 intronic rs36122090 RBFOX3 AU NM_001082575 exon10 c.15906+96insC 0.926518 0.9563 Uncertain 17_77111732_G->A 17 77111732 77111732 G A snp 817.77 0/1 99 52 21 31 0.6 exonic rs80198744 RBFOX3 AU synonymous SNV NM_001082575 exon5 c.C66T p.Y22Y 0.188498 0.2649 0.172580 0.1867 0.2926 Uncertain 17_77704912_T->C 17 77704912 77704912 T C snp 569.77 1/1 42 21 0 21 1.0 exonic rs8074547 ENPP7 AU nonsynonymous SNV NM_178543 exon1 c.T11C p.L4P 0.502796 0.5159 0.429932 0.4562 0.5452 0.09 T 0.0 P -1.020 T 0.0 T 0.0 T Pathogenic 17_77705045_T->C 17 77705045 77705045 T C snp 2757.77 1/1 99 97 0 97 1.0 exonic rs8074728 ENPP7 AU synonymous SNV NM_178543 exon1 c.T144C p.D48D 0.514976 0.5129 0.471167 0.4272 0.5059 Uncertain 17_77707120_A->G 17 77707120 77707120 A G snp 139.03 1/1 12 4 0 4 1.0 intronic rs3923265 ENPP7 AU NM_178543 exon2 c.2404-185A>G 0.566094 0.496 Uncertain 17_77707492_G->C 17 77707492 77707492 G C snp 389.77 1/1 30 10 0 10 1.0 intronic rs11150740 ENPP7 AU NM_178543 exon2 c.2550+41G>C 0.159744 0.4048 0.053555 0.1257 0.3994 Uncertain 17_77710817_G->T 17 77710817 77710817 G T snp 6364.77 1/1 99 240 0 240 1.0 intronic ENPP7 AU NM_178543 exon4 c.5938-22G>T 0.117612 0.373 0.020913 0.0676 0.3748 Uncertain 17_77751983_C->G 17 77751983 77751983 C G snp 143.03 1/1 12 5 0 5 1.0 UTR5 CBX2 AR 0.996805 0.9841 Uncertain 17_77752963_T->A 17 77752963 77752963 T A snp 85.77 0/1 67 6 2 4 0.67 intronic CBX2 AR NM_005189 exon3 c.1126-197T>A Uncertain 17_77812919_A->C 17 77812919 77812919 A C snp 34.77 0/1 63 139 110 29 0.21 intronic CBX4 AU NM_003655 exon5 c.5224-62A>C Uncertain 17_77914561_C->T 17 77914561 77914561 C T snp 51.77 0/1 80 19 16 3 0.16 UTR3 rs2241950 TBC1D16 AU 0.254193 0.4058 Uncertain 17_77916134_G->A 17 77916134 77916134 G A snp 313.77 0/1 99 25 14 11 0.44 intronic rs2650236 TBC1D16 AU NM_019020 exon2 c.1348+129G>A 0.415735 0.4792 Uncertain 17_77918921_G->A 17 77918921 77918921 G A snp 711.77 0/1 99 53 24 29 0.55 intronic rs77152956 TBC1D16 AU NM_019020 exon3 c.4229+35G>A 0.0271565 0.12 0.000700 0.0200 0.1820 Uncertain 17_77923478_G->A 17 77923478 77923478 G A snp 959.77 1/1 72 27 0 27 1.0 intronic rs894858 TBC1D16 AU NM_019020 exon6 c.8858-37G>A 0.257987 0.4891 0.143821 0.2198 0.4686 Uncertain 17_77925393_G->A 17 77925393 77925393 G A snp 1207.77 0/1 99 124 69 55 0.44 exonic rs35286723 TBC1D16 AU synonymous SNV NM_019020 exon5 c.C945T p.D315D 0.150958 0.1885 0.100338 0.1505 0.2162 Uncertain 17_77926293_T->C 17 77926293 77926293 T C snp 263.77 0/1 99 17 8 9 0.53 intronic rs1696772 TBC1D16 AU NM_019020 exon9 c.11798-162T>C 0.913938 0.9464 Uncertain 17_78010548_C->A 17 78010548 78010548 C A snp 1507.77 0/1 99 129 62 67 0.52 intronic rs3752041 CCDC40 AU NM_001243342 exon1 c.29+58C>A 0.209864 0.3343 Uncertain 17_78013724_G->C 17 78013724 78013724 G C snp 2635.77 1/1 99 89 0 89 1.0 exonic rs2289527 CCDC40 AU synonymous SNV NM_017950 exon3 c.G207C p.V69V 0.957268 0.8968 0.993784 0.9693 0.9021 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_multiple_submitters\x2c_no_conflicts;CLNACC=RCV000152942.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 17_78022378_C->G 17 78022378 78022378 C G snp 548.77 0/1 99 30 8 22 0.73 splicing rs2289530 CCDC40 AU NM_001243342 exon5 c.11920-3C>G 0.175160 0.2376 0.3904 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000150251.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 17_78024094_C->T 17 78024094 78024094 C T snp 50.74 1/1 6 2 0 2 1.0 intronic rs2289533 CCDC40 AU NM_001243342 exon7 c.13621+12C>T 0.211661 0.3611 0.159476 0.2327 0.4011 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000150252.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 17_78032915_C->T 17 78032915 78032915 C T snp 649.77 0/1 99 60 38 22 0.37 intronic rs11654770 CCDC40 AU NM_001243342 exon9 c.22318+136C>T 0.201478 0.3611 Uncertain 17_78058432_G->A 17 78058432 78058432 G A snp 220.77 0/1 99 16 6 10 0.63 intronic rs715041 CCDC40 AU NM_001243342 exon13 c.48080-109G>A 0.16893 0.2292 Uncertain 17_78061317_A->C 17 78061317 78061317 A C snp 143.77 0/1 99 16 10 6 0.38 intronic rs11150839 CCDC40 AU NM_001243342 exon15 c.50944-88A>C 0.64996 0.6081 Uncertain 17_78061353_G->A 17 78061353 78061353 G A snp 371.77 0/1 99 47 31 16 0.34 intronic rs11150840 CCDC40 AU NM_001243342 exon15 c.50944-52G>A 0.651158 0.6111 Uncertain 17_78064015_G->C 17 78064015 78064015 G C snp 1557.77 0/1 99 138 57 81 0.59 intronic rs4889953 CCDC40 AU NM_001243342 exon18 c.53476+78G>C 0.672524 0.6052 0.6809 0.5230 0.5 T 0.0 P -0.939 T Uncertain 17_78064064_G->A 17 78064064 78064064 G A snp 906.77 0/1 99 105 42 63 0.6 intronic rs7207166 CCDC40 AU NM_001243342 exon18 c.53476+127G>A 0.75599 0.6052 0.2485 0.1190 0.52 T 0.0 P -0.984 T Uncertain 17_78064145_-->CAC 17 78064145 78064145 - CAC indel 1171.73 0/1 99 49 28 21 0.43 intronic rs10693712 CCDC40 AU NM_001243342 exon18 c.53476+208insCAC 0.654752 0.6062 0.2267 0.0789 Uncertain 17_78069324_C->A 17 78069324 78069324 C A snp 2131.77 0/1 99 193 103 90 0.47 intronic rs1561810 CCDC40 AU NM_017950 exon18 c.58789+74C>A 0.238419 0.2431 Uncertain 17_78069367_G->A 17 78069367 78069367 G A snp 1221.77 0/1 99 106 58 48 0.45 intronic rs12601244 CCDC40 AU NM_017950 exon18 c.58789+117G>A 0.103834 0.244 Uncertain 17_78071052_T->C 17 78071052 78071052 T C snp 2230.77 0/1 99 182 90 92 0.51 exonic rs12952612 CCDC40 AU synonymous SNV NM_017950 exon19 c.T3030C p.D1010D 0.714257 0.6567 0.737195 0.7331 0.6375 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000155469.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 17_78071247_A->G 17 78071247 78071247 A G snp 1339.77 0/1 99 103 53 50 0.49 intronic rs59252872 CCDC40 AU NM_017950 exon19 c.60741+45A>G 0.337061 0.2956 0.321111 0.2764 0.2836 Uncertain 17_78071327_C->A 17 78071327 78071327 C A snp 74.77 0/1 99 8 4 4 0.5 intronic rs56968343 CCDC40 AU NM_017950 exon19 c.60741+125C>A 0.391174 0.4335 0.352606 Uncertain 17_78073201_G->A 17 78073201 78073201 G A snp 224.77 0/1 99 19 10 9 0.47 intronic rs55990144 CCDC40 AU NM_017950 exon20 c.62864-124G>A 0.385982 0.4395 Uncertain 17_78073355_A->G 17 78073355 78073355 A G snp 1080.77 0/1 99 77 36 41 0.53 exonic rs56407805 CCDC40 AU synonymous SNV NM_017950 exon20 c.A3210G p.T1070T 0.394569 0.4335 0.347727 0.3142 0.4100 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_multiple_submitters\x2c_no_conflicts;CLNACC=RCV000150257.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 17_78073562_A->G 17 78073562 78073562 A G snp 1810.77 0/1 99 174 93 81 0.47 exonic rs2304854 CCDC40 AU synonymous SNV NM_017950 exon20 c.A3417G p.P1139P 0.501597 0.4355 0.491954 0.4633 0.4107 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_multiple_submitters\x2c_no_conflicts;CLNACC=RCV000155470.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 17_78073589_T->C 17 78073589 78073589 T C snp 1242.77 0/1 99 120 65 55 0.46 UTR3 rs2304853 CCDC40 AU 0.395567 0.4335 0.348116 0.3147 0.4087 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_multiple_submitters\x2c_no_conflicts;CLNACC=RCV000150258.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 17_78078709_T->C 17 78078709 78078709 T C snp 2283.77 0/1 99 198 96 102 0.52 exonic rs1800300 GAA AR synonymous SNV NM_000152 exon2 c.T324C p.C108C 0.714457 0.6518 0.731580 0.7367 0.6370 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_multiple_submitters\x2c_no_conflicts;CLNACC=RCV000078180.4;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 17_78079481_C->G 17 78079481 78079481 C G snp 843.77 0/1 99 72 30 42 0.58 intronic rs8069491 GAA AR NM_000152 exon3 c.1162-66C>G 0.602436 0.5437 Uncertain 17_78079509_T->G 17 78079509 78079509 T G snp 915.77 0/1 99 89 45 44 0.49 intronic rs12452721 GAA AR NM_000152 exon3 c.1162-38T>G 0.605631 0.5437 0.669153 0.6758 0.5267 Uncertain 17_78079544_C->G 17 78079544 78079544 C G snp 1160.77 0/1 99 110 57 53 0.48 splicing rs3816256 GAA AR NM_000152 exon3 c.1162-3C>G 0.602835 0.5437 0.672690 0.6759 0.5294 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_multiple_submitters\x2c_no_conflicts;CLNACC=RCV000078182.4;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 17_78079597_A->G 17 78079597 78079597 A G snp 1120.77 0/1 99 99 53 46 0.46 exonic rs1042393 GAA AR nonsynonymous SNV NM_000152 exon3 c.A596G p.H199R 0.600839 0.5437 0.672536 0.6746 0.5293 0.71 T 0.0 P -0.892 T 0.0 T 0.0 T CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_multiple_submitters\x2c_no_conflicts;CLNACC=RCV000078183.4;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 17_78079669_G->A 17 78079669 78079669 G A snp 566.77 0/1 99 50 24 26 0.52 exonic rs1042395 GAA AR nonsynonymous SNV NM_000152 exon3 c.G668A p.R223H 0.602436 0.5437 0.672408 0.6760 0.5291 0.58 T 0.0 P -0.910 T 0.206 T 0.022 T CLINSIG=non-pathogenic|probable-non-pathogenic;CLNDBN=not_specified|Glycogen_storage_disease\x2c_type_II;CLNREVSTAT=criteria_provided\x2c_multiple_submitters\x2c_no_conflicts|criteria_provided\x2c_single_submitter;CLNACC=RCV000078185.4|RCV000169616.1;CLNDSDB=MedGen|GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT:SNOMED_CT;CLNDSDBID=CN169374|NBK1261:C0017921:232300:ORPHA365:124462004:237967002 Pathogenic 17_78081526_-->GCAGCGG 17 78081526 78081526 - GCAGCGG indel 3674.73 0/1 99 126 74 52 0.41 splicing rs3071247 GAA AR NM_000152 exon4 c.3136+5insGCAGCGG 0.592851 0.5337 0.6724 0.5262 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000078186.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 17_78081551_T->C 17 78081551 78081551 T C snp 1325.77 0/1 99 119 63 56 0.47 intronic rs2304845 GAA AR NM_000152 exon4 c.3136+30T>C 0.601038 0.5437 0.663603 0.6741 0.5324 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000153287.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 17_78081707_G->A 17 78081707 78081707 G A snp 754.77 0/1 99 56 28 28 0.5 intronic rs2252455 GAA AR NM_000152 exon5 c.3310+12G>A 0.604433 0.5446 0.690763 0.7503 0.6317 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000078188.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 17_78081982_G->A 17 78081982 78081982 G A snp 507.77 0/1 99 43 23 20 0.47 intronic rs2241888 GAA AR NM_000152 exon6 c.3703-106G>A 0.71246 0.6498 Uncertain 17_78082005_C->T 17 78082005 78082005 C T snp 954.77 0/1 99 70 33 37 0.53 intronic rs2241887 GAA AR NM_000152 exon6 c.3703-83C>T 0.603634 0.5437 Uncertain 17_78082504_G->A 17 78082504 78082504 G A snp 1650.77 0/1 99 124 57 67 0.54 exonic rs1800304 GAA AR synonymous SNV NM_000152 exon8 c.G1203A p.Q401Q 0.602835 0.5427 0.670769 0.6784 0.5320 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_multiple_submitters\x2c_no_conflicts;CLNACC=RCV000078155.4;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 17_78083726_A->G 17 78083726 78083726 A G snp 2432.77 0/1 99 240 129 111 0.46 intronic rs2278619 GAA AR NM_000152 exon9 c.5358-17A>G 0.711661 0.6488 0.730201 0.7312 0.6277 CLINSIG=non-pathogenic|probable-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter|criteria_provided\x2c_single_submitter;CLNACC=RCV000078156.3|RCV000171487.1;CLNDSDB=MedGen|MedGen;CLNDSDBID=CN169374|CN221809 Uncertain 17_78084507_G->C 17 78084507 78084507 G C snp 174.77 0/1 99 22 14 8 0.36 intronic rs2304844 GAA AR NM_000152 exon10 c.6140-18G>C 0.603035 0.5417 0.670306 0.6760 0.5284 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000078158.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 17_78084688_C->A 17 78084688 78084688 C A snp 2931.77 0/1 99 249 122 127 0.51 intronic rs2304843 GAA AR NM_000152 exon10 c.6254+49C>A 0.599241 0.5427 0.669845 0.6748 0.5303 Uncertain 17_78085871_G->A 17 78085871 78085871 G A snp 2822.77 0/1 99 249 140 109 0.44 exonic rs1800307 GAA AR nonsynonymous SNV NM_000152 exon12 c.G1726A p.G576S 0.0371406 0.1468 0.000769 0.0179 0.1444 0 D 1.000 P -1.202 T 1.0 D 0.996 D ID=CM036025;DIS=Reduced activity;TAG=FP;PUB=14643388 FP Pathogenic 17_78086003_C->G 17 78086003 78086003 C G snp 1285.77 0/1 99 90 46 44 0.49 intronic rs2304839 GAA AR NM_000152 exon12 c.7514+104C>G 0.0794728 0.2381 Uncertain 17_78086531_G->A 17 78086531 78086531 G A snp 1204.77 0/1 99 108 55 53 0.49 intronic rs2304837 GAA AR NM_000152 exon13 c.8125+21G>A 0.0778754 0.2391 0.027052 0.0728 0.2801 Uncertain 17_78086846_A->G 17 78086846 78086846 A G snp 1399.77 0/1 99 140 74 66 0.47 intronic rs2304836 GAA AR NM_000152 exon14 c.8441+20A>G 0.715056 0.6508 0.733364 0.7441 0.6412 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000078164.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 ID=CS152218;DIS=Glycogen storage disease 2;TAG=DM?;PUB=25626711 DM? Uncertain 17_78087041_G->A 17 78087041 78087041 G A snp 983.77 0/1 99 96 50 46 0.48 exonic rs1800309 GAA AR nonsynonymous SNV NM_000152 exon15 c.G2065A p.E689K 0.0780751 0.2401 0.029561 0.0880 0.3103 0.71 T 0.000 P -1.054 T 0.092 T 0.072 T CLINSIG=non-pathogenic;CLNDBN=Acid_alpha-glucosidase\x2c_allele_4;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000004245.1;CLNDSDB=.;CLNDSDBID=. ID=CM088196;DIS=Reduced activity;TAG=FP;PUB=18301443 FP Pathogenic 17_78087109_A->G 17 78087109 78087109 A G snp 1413.77 0/1 99 114 52 62 0.54 exonic rs1800310 GAA AR synonymous SNV NM_000152 exon15 c.A2133G p.T711T 0.241613 0.3819 0.225528 0.3423 0.4253 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_multiple_submitters\x2c_no_conflicts;CLNACC=RCV000078168.4;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 17_78087260_C->T 17 78087260 78087260 C T snp 316.77 0/1 93 16 4 12 0.75 intronic rs72850840 GAA AR NM_000152 exon15 c.8780+95C>T 0.0778754 0.2391 Uncertain 17_78090928_G->A 17 78090928 78090928 G A snp 620.77 0/1 99 49 22 27 0.55 intronic rs2304832 GAA AR NM_000152 exon16 c.12523+20G>A 0.789337 0.6498 0.819160 0.7570 0.6202 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000078169.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 17_78090932_T->C 17 78090932 78090932 T C snp 621.77 0/1 99 44 21 23 0.52 intronic rs2304831 GAA AR NM_000152 exon16 c.12523+24T>C 0.207069 0.3611 0.128479 0.1553 0.3411 Uncertain 17_78091201_A->T 17 78091201 78091201 A T snp 77.77 0/1 54 5 2 3 0.6 intronic rs2304830 GAA AR NM_000152 exon17 c.13013-197A>T 0.714257 0.6498 Uncertain 17_78091405_G->A 17 78091405 78091405 G A snp 719.77 0/1 99 58 26 32 0.55 exonic rs1126690 GAA AR nonsynonymous SNV NM_000152 exon17 c.G2338A p.V780I 0.711861 0.6498 0.733195 0.7296 0.6212 0.48 T 0.0 P -0.975 T 0.001 T 0.003 T CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_multiple_submitters\x2c_no_conflicts;CLNACC=RCV000078171.4;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 17_78111449_A->C 17 78111449 78111449 A C snp 266.77 0/1 99 21 10 11 0.52 intronic rs2289535 EIF4A3 AR NM_014740 exon4 c.2012+149A>C 0.399161 0.505 Uncertain 17_78111877_T->C 17 78111877 78111877 T C snp 2012.77 0/1 99 138 58 80 0.58 intronic rs2361710 EIF4A3 AR NM_014740 exon5 c.2652-63T>C 0.522364 0.6022 Uncertain 17_78114991_T->C 17 78114991 78114991 T C snp 1110.77 0/1 99 72 35 37 0.51 intronic rs8082247 EIF4A3 AR NM_014740 exon9 c.5829-126T>C 0.229633 0.25 Uncertain 17_78115484_A->C 17 78115484 78115484 A C snp 605.77 0/1 99 37 14 23 0.62 intronic rs935117 EIF4A3 AR NM_014740 exon10 c.6292-96A>C 0.283147 0.3601 Uncertain 17_78155182_A->C 17 78155182 78155182 A C snp 799.77 0/1 99 56 26 30 0.54 intronic rs9906472 CARD14 AD 0.638179 0.6597 Uncertain 17_78157592_C->T 17 78157592 78157592 C T snp 233.88 0/1 16 12 2 10 0.83 intronic rs11656949 CARD14 AD NM_024110 exon4 c.2474-119C>T 0.479832 0.504 Uncertain 17_78158063_G->A 17 78158063 78158063 G A snp 489.77 0/1 99 30 13 17 0.57 intronic rs4889991 CARD14 AD NM_024110 exon4 c.2800+26G>A 0.794928 0.6706 0.854415 0.8441 0.7366 Uncertain 17_78162170_G->A 17 78162170 78162170 G A snp 1716.77 0/1 99 147 70 77 0.52 splicing rs28674001 CARD14 AD NM_024110 exon5 c.6938-5G>A 0.301318 0.3849 0.298401 0.3481 0.4252 Pathogenic 17_78164427_-->G 17 78164427 78164427 - G indel 236.73 0/1 99 18 9 9 0.5 intronic rs375041213 CARD14 AD NM_024110 exon7 c.9335-145insG Uncertain 17_78169636_G->A 17 78169636 78169636 G A snp 149.77 0/1 99 10 4 6 0.6 intronic rs750541 CARD14 AD NM_024110 exon11 c.14214+185G>A 0.352636 0.4167 Uncertain 17_78171944_G->C 17 78171944 78171944 G C snp 548.77 0/1 99 69 44 25 0.36 exonic rs2066964 CARD14 AD nonsynonymous SNV NM_024110 exon12 c.G1641C p.R547S 0.370208 0.4554 0.359142 0.3772 0.4560 0.9 T 0.0 P -0.922 T 0.001 T 0.0 T Pathogenic 17_78177805_C->G 17 78177805 78177805 C G snp 224.77 0/1 99 14 6 8 0.57 intronic rs2289540 CARD14 AD NM_024110 exon16 c.22447+121C>G 0.0764776 0.0972 Uncertain 17_78178916_C->T 17 78178916 78178916 C T snp 862.77 0/1 99 70 34 36 0.51 exonic rs61757652 CARD14 AD synonymous SNV NM_024110 exon18 c.C2481T p.P827P 0.10004 0.1042 0.065508 0.0975 0.1108 Uncertain 17_78180587_A->G 17 78180587 78180587 A G snp 253.77 0/1 99 16 8 8 0.5 intronic rs4889837 CARD14 AD NM_024110 exon20 c.25531-181A>G 0.45008 0.5744 Uncertain 17_78180618_A->C 17 78180618 78180618 A C snp 760.77 0/1 99 56 31 25 0.45 intronic rs4889998 CARD14 AD NM_024110 exon20 c.25531-150A>C 0.458267 0.5744 Uncertain 17_78184393_C->T 17 78184393 78184393 C T snp 1598.77 0/1 99 153 81 72 0.47 exonic rs7503034 SGSH AR nonsynonymous SNV NM_000199 exon8 c.G1367A p.R456H 0.345847 0.3998 0.293941 0.3592 0.4139 0.12 T 0.000 P -1.062 T 0.0 T 0.0 T CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000078352.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 17_78187720_A->G 17 78187720 78187720 A G snp 1851.77 0/1 99 170 92 78 0.46 intronic rs35087113 SGSH AR NM_000199 exon3 c.3434+36A>G 0.349441 0.4028 0.3830 0.4273 Uncertain 17_78187722_AG->- 17 78187722 78187723 AG - indel 3401.73 0/1 99 168 91 77 0.46 intronic rs34029730 SGSH AR NM_000199 exon3 c.3434+38_3434+39delAG 0.350839 0.4018 0.294288 0.3817 0.4254 Uncertain 17_78187954_A->G 17 78187954 78187954 A G snp 2307.77 0/1 99 190 92 98 0.52 intronic rs6565647 SGSH AR NM_000199 exon4 c.3720-16A>G 0.514177 0.4137 0.465491 0.5193 0.4861 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000078355.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 17_78188963_G->A 17 78188963 78188963 G A snp 1577.77 0/1 99 156 82 74 0.47 intronic rs4889839 SGSH AR NM_000199 exon6 c.4687+26G>A 0.556909 0.6181 0.549808 0.5356 0.6314 Uncertain 17_78189009_C->T 17 78189009 78189009 C T snp 904.77 0/1 99 89 47 42 0.47 intronic rs4889840 SGSH AR NM_000199 exon6 c.4687+72C>T 0.466653 0.6131 Uncertain 17_78193831_T->C 17 78193831 78193831 T C snp 37.77 0/1 66 6 3 3 0.5 intronic rs4889841 SGSH AR NM_000199 exon8 c.9774-193T>C 0.534345 0.4008 Uncertain 17_78195772_C->T 17 78195772 78195772 C T snp 379.77 1/1 30 11 0 11 1.0 intronic rs12946329 SLC26A11 AU NM_001166348 exon2 c.234+179C>T 0.404952 0.3929 Uncertain 17_78196742_-->GTG 17 78196742 78196742 - GTG indel 774.73 1/1 39 15 0 15 1.0 intronic rs56237371 SLC26A11 AU NM_001166348 exon3 c.1287+96insGTG 0.535543 0.4127 Uncertain 17_78199903_A->G 17 78199903 78199903 A G snp 56.74 1/1 6 2 0 2 1.0 intronic rs7224212 SLC26A11 AU NM_001166348 exon5 c.4356+188A>G 0.316494 0.38 Uncertain 17_78201554_T->C 17 78201554 78201554 T C snp 978.77 1/1 72 29 0 29 1.0 intronic rs6565652 SLC26A11 AU NM_001166348 exon6 c.6257-62T>C 0.727835 0.9752 Uncertain 17_78201783_T->G 17 78201783 78201783 T G snp 2235.77 1/1 99 80 0 80 1.0 intronic rs6565653 SLC26A11 AU NM_001166348 exon6 c.6400+24T>G 0.73762 0.9752 0.588832 0.6315 0.9796 Uncertain 17_78210944_G->A 17 78210944 78210944 G A snp 1232.77 1/1 90 39 0 39 1.0 intronic rs8070283 SLC26A11 AU NM_001166348 exon7 c.15543+42G>A 0.774361 0.9851 0.681175 0.7497 0.9855 Uncertain 17_78215441_A->G 17 78215441 78215441 A G snp 1680.77 1/1 99 49 0 49 1.0 intronic rs12943906 SLC26A11 AU NM_001166348 exon9 c.20210-128A>G 0.383586 0.3651 Uncertain 17_78215566_T->G 17 78215566 78215566 T G snp 5838.77 1/1 99 214 0 214 1.0 splicing rs12942462 SLC26A11 AU NM_001166348 exon9 c.20210-3T>G 0.244808 0.3462 0.189297 0.2677 0.3700 Pathogenic 17_78219065_C->A 17 78219065 78219065 C A snp 3797.77 1/1 99 139 0 139 1.0 intronic rs7406843 SLC26A11 AU NM_001166348 exon10 c.23696+10C>A 0.608427 0.9464 0.500077 0.6460 0.9521 Uncertain 17_78219100_C->T 17 78219100 78219100 C T snp 2998.77 1/1 99 111 0 111 1.0 intronic rs7406844 SLC26A11 AU NM_001166348 exon10 c.23696+45C>T 0.757987 0.9683 0.669691 0.7443 0.9705 Uncertain 17_78219908_T->C 17 78219908 78219908 T C snp 7055.77 1/1 99 249 0 249 1.0 intronic rs34818744 SLC26A11 AU NM_001166348 exon11 c.24593-44T>C 0.292532 0.3462 0.232420 0.2841 0.3718 Uncertain 17_78222235_A->G 17 78222235 78222235 A G snp 252.8 1/1 21 7 0 7 1.0 intronic rs7501789 SLC26A11 AU NM_001166348 exon14 c.27014-138A>G 0.280152 0.3661 Uncertain 17_78222280_A->G 17 78222280 78222280 A G snp 488.77 1/1 36 16 0 16 1.0 intronic rs7209848 SLC26A11 AU NM_001166348 exon14 c.27014-93A>G 0.816693 0.9831 Uncertain 17_78222565_A->G 17 78222565 78222565 A G snp 1127.77 1/1 81 41 0 41 1.0 intronic rs7214131 SLC26A11 AU NM_001166348 exon14 c.27114+92A>G 0.847244 0.9821 Uncertain 17_78222661_C->T 17 78222661 78222661 C T snp 257.8 1/1 21 9 0 9 1.0 intronic rs9904116 SLC26A11 AU NM_001166348 exon14 c.27114+188C>T 0.677516 0.9454 Uncertain 17_78223103_C->A 17 78223103 78223103 C A snp 1281.77 1/1 90 48 0 48 1.0 intronic rs8064518 SLC26A11 AU NM_001166348 exon15 c.27727+17C>A 0.798522 0.994 0.717976 0.7792 0.9950 Uncertain 17_78223238_T->C 17 78223238 78223238 T C snp 56.74 1/1 6 2 0 2 1.0 intronic rs6565661 SLC26A11 AU NM_001166348 exon15 c.27727+152T>C 0.85024 0.994 Uncertain 17_78224945_A->T 17 78224945 78224945 A T snp 54.74 1/1 6 3 0 3 1.0 intronic rs11868423 SLC26A11 AU NM_001166348 exon16 c.29768-182A>T 0.00139776 Uncertain 17_78225055_G->T 17 78225055 78225055 G T snp 2728.77 1/1 99 100 0 100 1.0 intronic rs8078855 SLC26A11 AU NM_001166348 exon16 c.29768-72G>T 0.447484 0.5615 Uncertain 17_78252770_T->C 17 78252770 78252770 T C snp 3777.77 1/1 99 125 0 125 1.0 intronic rs7219131 RNF213 AU NM_001256071 exon3 c.9723+5567T>C 0.572085 0.6349 Uncertain 17_78292945_G->A 17 78292945 78292945 G A snp 907.77 0/1 99 57 22 35 0.61 intronic rs6565666 RNF213 AU NM_001256071 exon17 c.55509-44G>A 0.211062 0.1468 0.229663 0.1769 0.1407 Uncertain 17_78293189_A->T 17 78293189 78293189 A T snp 2321.77 0/1 99 221 124 97 0.44 intronic rs55996424 RNF213 AU NM_001256071 exon17 c.55632+77A>T 0.329673 0.6121 0.189451 0.2373 0.6125 0.0 P -0.963 T 0.957 D 0.327 D Uncertain 17_78298938_A->G 17 78298938 78298938 A G snp 4612.77 1/1 99 176 1 175 0.99 exonic rs6565674 RNF213 AU nonsynonymous SNV NM_001256071 exon18 c.A3133G p.N1045D 0.999401 0.998 0.9999 0.9970 1 T 0.997 P -0.957 T Pathogenic 17_78302157_C->A 17 78302157 78302157 C A snp 1470.77 0/1 99 148 79 69 0.47 exonic rs8082521 RNF213 AU nonsynonymous SNV NM_001256071 exon20 c.C3397A p.Q1133K 0.558307 0.2262 0.700832 0.6362 0.2083 0.96 T 0.0 P -1.007 T Pathogenic 17_78305871_G->A 17 78305871 78305871 G A snp 1580.77 0/1 99 147 77 70 0.48 exonic rs10782008 RNF213 AU nonsynonymous SNV NM_001256071 exon21 c.G3583A p.V1195M 0.488818 0.3879 0.590670 0.5764 0.4715 0.13 T 0.0 P -0.996 T Pathogenic 17_78306102_G->C 17 78306102 78306102 G C snp 3002.77 0/1 99 232 110 122 0.53 exonic rs9913636 RNF213 AU nonsynonymous SNV NM_001256071 exon21 c.G3814C p.E1272Q 0.343251 0.3552 0.386553 0.4389 0.4379 0.42 T 0.000 P -0.918 T Pathogenic 17_78306280_A->G 17 78306280 78306280 A G snp 2588.77 0/1 99 215 108 107 0.5 exonic rs8074015 RNF213 AU nonsynonymous SNV NM_001256071 exon21 c.A3992G p.D1331G 0.596645 0.3948 0.703241 0.6440 0.4601 0.2 T 0.0 P -1.081 T Pathogenic 17_78306308_C->G 17 78306308 78306308 C G snp 1970.77 0/1 99 180 94 86 0.48 exonic rs9908287 RNF213 AU synonymous SNV NM_001256071 exon21 c.C4020G p.V1340V 0.48742 0.3819 0.590670 0.5725 0.4509 Uncertain 17_78308136_G->A 17 78308136 78308136 G A snp 139.77 0/1 99 14 9 5 0.36 intronic rs11658902 RNF213 AU NM_001256071 exon22 c.70590+66G>A 0.492212 0.37 Uncertain 17_78311360_C->T 17 78311360 78311360 C T snp 918.77 0/1 99 60 26 34 0.57 intronic rs7211876 RNF213 AU NM_001256071 exon24 c.73905-25C>T 0.192492 0.3214 0.164258 0.2050 0.4214 Uncertain 17_78311508_G->A 17 78311508 78311508 G A snp 3014.77 0/1 99 218 108 110 0.5 exonic rs4890009 RNF213 AU synonymous SNV NM_001256071 exon24 c.G4650A p.A1550A 0.598043 0.375 0.708060 0.6463 0.4337 Uncertain 17_78319136_G->A 17 78319136 78319136 G A snp 2386.77 0/1 99 186 89 97 0.52 exonic rs9674961 RNF213 AU nonsynonymous SNV NM_001256071 exon29 c.G7001A p.S2334N 0.558506 0.376 0.660464 0.6081 0.3537 0.81 T 0.0 P -0.981 T 0.0 T 0.0 T Pathogenic 17_78319380_G->C 17 78319380 78319380 G C snp 1623.77 0/1 99 133 72 61 0.46 exonic rs4890012 RNF213 AU synonymous SNV NM_001256071 exon29 c.G7245C p.P2415P 0.473243 0.378 0.572505 0.5673 0.3673 Uncertain 17_78323445_T->A 17 78323445 78323445 T A snp 712.77 0/1 99 37 13 24 0.65 intronic rs35993981 RNF213 AU NM_001256071 exon30 c.86089-124T>A 0.400359 0.3462 Uncertain 17_78323757_T->C 17 78323757 78323757 T C snp 307.77 0/1 99 15 5 10 0.67 intronic rs7223115 RNF213 AU NM_001256071 exon30 c.86226+51T>C 0.644169 0.5665 0.718284 0.6661 0.5389 Uncertain 17_78324048_T->A 17 78324048 78324048 T A snp 401.77 0/1 99 37 21 16 0.43 intronic rs9944443 RNF213 AU NM_001256071 exon31 c.86620-52T>A 0.414936 0.3472 0.452256 Uncertain 17_78324259_G->T 17 78324259 78324259 G T snp 565.77 0/1 99 50 25 25 0.5 intronic rs12051723 RNF213 AU NM_001256071 exon31 c.86716+63G>T 0.119209 0.248 Uncertain 17_78327358_G->A 17 78327358 78327358 G A snp 1112.77 0/1 99 89 44 45 0.51 exonic rs7216493 RNF213 AU synonymous SNV NM_001256071 exon34 c.G10470A p.E3490E 0.628994 0.5486 0.709365 0.6657 0.5286 Uncertain 17_78329171_A->G 17 78329171 78329171 A G snp 34.77 0/1 63 7 5 2 0.29 ncRNA_intronic rs7217256 LOC100294362 AU 0.538538 0.4792 Uncertain 17_78332396_A->G 17 78332396 78332396 A G snp 649.77 0/1 99 50 28 22 0.44 ncRNA_intronic rs9915562 LOC100294362 AU 0.670727 0.5625 Uncertain 17_78333840_T->C 17 78333840 78333840 T C snp 1571.77 0/1 99 165 94 71 0.43 ncRNA_intronic rs8067292 LOC100294362 AU 0.409944 0.3423 0.506151 0.5210 0.3406 Uncertain 17_78348200_C->T 17 78348200 78348200 C T snp 503.77 0/1 99 32 16 16 0.5 ncRNA_intronic rs569471551 LOC100294362 AU 0.000199681 Uncertain 17_78348494_A->G 17 78348494 78348494 A G snp 567.77 0/1 99 26 8 18 0.69 ncRNA_intronic rs6565681 LOC100294362 AU 0.742612 0.5972 0.7988 0.6421 Uncertain 17_78354661_C->T 17 78354661 78354661 C T snp 2697.77 0/1 99 250 137 113 0.45 exonic rs4889848 RNF213 AU synonymous SNV NM_001256071 exon56 c.C13671T p.H4557H 0.759385 0.5794 0.881747 0.7762 0.5544 Uncertain 17_78355176_A->G 17 78355176 78355176 A G snp 107.77 0/1 99 11 6 5 0.45 ncRNA_intronic rs7224239 LOC100294362 AU 0.382788 0.4077 Uncertain 17_78359214_C->T 17 78359214 78359214 C T snp 125.78 0/1 27 5 1 4 0.8 ncRNA_intronic LOC100294362 AU Uncertain 17_78360124_C->T 17 78360124 78360124 C T snp 3295.77 0/1 99 249 116 133 0.53 exonic rs757880599 RNF213 AU nonsynonymous SNV NM_001256071 exon62 c.C14614T p.R4872C 1.651e-05 0 0.01 T 0.976 D -0.816 T 1.0 D 0.973 D Pathogenic 17_78362300_A->T 17 78362300 78362300 A T snp 405.77 0/1 99 41 22 19 0.46 ncRNA_intronic rs6565683 LOC100294362 AU 0.743411 0.6012 Uncertain 17_78389156_G->T 17 78389156 78389156 G T snp 192.77 0/1 99 15 8 7 0.47 intronic rs143877265 ENDOV AU NM_001164638 exon1 c.56+106G>T 0.00439297 0.0218 Uncertain 17_78396091_C->G 17 78396091 78396091 C G snp 777.77 0/1 99 75 41 34 0.45 intronic rs9907097 ENDOV AU NM_001164638 exon3 c.7051+46C>G 0.458666 0.3958 0.534423 0.5408 0.3993 Uncertain 17_78401588_G->T 17 78401588 78401588 G T snp 1446.77 0/1 99 108 47 61 0.56 intronic rs8065290 ENDOV AU NM_001164638 exon7 c.13401-807G>T 0.763379 0.6508 0.7144 0.6970 0.16 T 0.0 P -1.014 T Uncertain 17_78404176_TTTG->- 17 78404176 78404179 TTTG - indel 2894.73 0/1 99 104 39 65 0.63 intronic rs113730607 ENDOV AU NM_001164638 exon8 c.15177+5_15177+8delTTTG 0.4333 0.335 Uncertain 17_78406974_G->A 17 78406974 78406974 G A snp 1720.77 0/1 99 168 93 75 0.45 intronic rs41301932 ENDOV AU NM_001164638 exon8 c.15177+2803G>A 0.0599042 0.0556 0.047069 0.0702 0.0657 Uncertain 17_78410050_A->G 17 78410050 78410050 A G snp 200.77 0/1 99 17 9 8 0.47 UTR3 rs7207961 ENDOV AU 0.721645 0.5813 Uncertain 17_78444658_T->G 17 78444658 78444658 T G snp 592.77 0/1 99 61 39 22 0.36 exonic rs12943620 NPTX1 AU synonymous SNV NM_002522 exon5 c.A1254C p.G418G 0.837061 0.7629 0.835999 0.8028 0.7647 Uncertain 17_78444679_T->C 17 78444679 78444679 T C snp 910.77 0/1 99 84 48 36 0.43 exonic rs28364735 NPTX1 AU synonymous SNV NM_002522 exon5 c.A1233G p.E411E 0.192692 0.3175 0.217207 0.2501 0.3515 Uncertain 17_78445702_A->G 17 78445702 78445702 A G snp 1347.77 0/1 99 106 47 59 0.56 exonic rs1131609 NPTX1 AU synonymous SNV NM_002522 exon4 c.T907C p.L303L 0.775359 0.7649 0.784682 0.7767 0.7714 Uncertain 17_78617439_T->C 17 78617439 78617439 T C snp 368.77 0/1 99 53 37 16 0.3 intronic rs6565469 RPTOR AU NM_001163034 exon3 c.98098-88T>C 0.697085 0.5833 Uncertain 17_78681590_A->G 17 78681590 78681590 A G snp 737.77 0/1 99 70 35 35 0.5 intronic rs2306690 RPTOR AU NM_001163034 exon4 c.162211-50A>G 0.673123 0.63 0.719360 0.6239 0.6270 Uncertain 17_78765219_A->G 17 78765219 78765219 A G snp 3046.77 1/1 99 112 0 112 1.0 intronic rs4969429 RPTOR AU NM_001163034 exon7 c.245820-30A>G 0.73762 0.75 0.749346 0.7235 0.7376 Uncertain 17_78820212_G->A 17 78820212 78820212 G A snp 1102.77 0/1 99 96 52 44 0.46 intronic rs3829572 RPTOR AU NM_001163034 exon11 c.300843-60G>A 0.423123 0.4306 Uncertain 17_78820329_C->T 17 78820329 78820329 C T snp 1672.77 0/1 99 163 91 72 0.44 exonic rs3751945 RPTOR AU synonymous SNV NM_020761 exon11 c.C1269T p.G423G 0.436701 0.4345 0.496156 0.5777 0.4448 Uncertain 17_78854056_A->G 17 78854056 78854056 A G snp 628.77 0/1 99 56 33 23 0.41 intronic rs6420478 RPTOR AU NM_020761 exon14 c.334785-158A>G 0.539936 0.4147 Uncertain 17_78854223_A->G 17 78854223 78854223 A G snp 2562.77 0/1 99 248 137 111 0.45 exonic rs2289759 RPTOR AU synonymous SNV NM_020761 exon14 c.A1518G p.Q506Q 0.248003 0.3879 0.223051 0.2540 0.3847 ID=CM092499;DIS=Altered splicing;TAG=FP;PUB=19388141 FP Uncertain 17_78854316_C->T 17 78854316 78854316 C T snp 1140.77 0/1 99 131 78 53 0.4 intronic rs2289760 RPTOR AU NM_020761 exon14 c.334860+27C>T 0.25 0.377 0.220548 0.2602 0.3796 Uncertain 17_78857885_G->A 17 78857885 78857885 G A snp 330.77 0/1 99 21 9 12 0.57 intronic rs11656246 RPTOR AU NM_020761 exon16 c.338343+113G>A 0.238019 0.4048 Uncertain 17_78859004_C->T 17 78859004 78859004 C T snp 358.77 0/1 99 28 13 15 0.54 intronic rs2016817 RPTOR AU NM_020761 exon17 c.339519+56C>T 0.25 0.4048 Uncertain 17_78865491_C->G 17 78865491 78865491 C G snp 728.77 0/1 99 56 25 31 0.55 intronic rs2289763 RPTOR AU NM_001163034 exon14 c.346090-28C>G 0.127596 0.1448 0.092573 0.1305 0.1301 Uncertain 17_78865546_T->C 17 78865546 78865546 T C snp 998.77 0/1 99 83 40 43 0.52 exonic rs2289764 RPTOR AU synonymous SNV NM_020761 exon18 c.T2010C p.L670L 0.38139 0.2262 0.371751 0.2833 0.2147 Uncertain 17_78865630_A->G 17 78865630 78865630 A G snp 898.77 0/1 99 77 40 37 0.48 exonic rs2289765 RPTOR AU synonymous SNV NM_020761 exon18 c.A2094G p.A698A 0.230032 0.2321 0.182531 0.1701 0.2181 Uncertain 17_78867733_A->G 17 78867733 78867733 A G snp 1022.77 0/1 99 105 63 42 0.4 intronic rs3751943 RPTOR AU NM_001163034 exon16 c.348236+68A>G 0.427915 0.2659 Uncertain 17_78867822_C->T 17 78867822 78867822 C T snp 191.77 0/1 99 9 3 6 0.67 intronic rs17848656 RPTOR AU NM_001163034 exon16 c.348236+157C>T 0.314497 0.2609 Uncertain 17_78882825_A->G 17 78882825 78882825 A G snp 80.77 0/1 69 5 2 3 0.6 intronic rs6420479 RPTOR AU NM_001163034 exon17 c.363300+96A>G 0.864018 0.7758 Uncertain 17_78896529_C->T 17 78896529 78896529 C T snp 3032.77 0/1 99 246 123 123 0.5 exonic rs2271603 RPTOR AU synonymous SNV NM_020761 exon22 c.C2526T p.T842T 0.245407 0.1964 0.272608 0.3670 0.2743 Uncertain 17_78897547_C->T 17 78897547 78897547 C T snp 555.77 0/1 99 50 30 20 0.4 intronic rs7217786 RPTOR AU NM_001163034 exon19 c.378044+74C>T 0.249201 0.1994 0.3335 0.2168 ID=COSN159556;OCCURENCE=1(breast) Uncertain 17_78897561_C->T 17 78897561 78897561 C T snp 473.77 0/1 99 30 15 15 0.5 intronic rs6565491 RPTOR AU NM_001163034 exon19 c.378044+88C>T 0.852436 0.747 0.8823 0.7595 Uncertain 17_78897587_A->G 17 78897587 78897587 A G snp 100.77 0/1 99 11 7 4 0.36 intronic rs6565492 RPTOR AU NM_001163034 exon19 c.378044+114A>G 0.852436 0.747 0.8823 0.76 Uncertain 17_78921117_C->T 17 78921117 78921117 C T snp 651.77 0/1 99 47 17 30 0.64 exonic rs4969231 RPTOR AU synonymous SNV NM_020761 exon27 c.C3231T p.N1077N 0.197684 0.2044 0.236737 0.2749 0.1957 Uncertain 17_78934238_A->G 17 78934238 78934238 A G snp 56.74 1/1 6 2 0 2 1.0 intronic rs117004772 RPTOR AU NM_001163034 exon26 c.414576+233A>G 0.000599042 0.003 Uncertain 17_78937925_C->T 17 78937925 78937925 C T snp 209.77 0/1 99 19 12 7 0.37 intronic rs3751938 RPTOR AU NM_001163034 exon30 c.418632-136C>T 0.669129 0.6577 Uncertain 17_78938204_G->C 17 78938204 78938204 G C snp 1896.77 0/1 99 166 85 81 0.49 UTR3 rs3751936 RPTOR AU 0.208666 0.2688 Uncertain 17_78968524_C->T 17 78968524 78968524 C T snp 328.77 0/1 99 39 26 13 0.33 intronic rs56236825 CHMP6 AU NM_024591 exon2 c.2772+34C>T 0.118982 0.2370 0.2724 Uncertain 17_78972040_G->A 17 78972040 78972040 G A snp 83.81 0/1 20 4 1 3 0.75 intronic rs143106846 CHMP6 AU NM_024591 exon7 c.6447-125G>A 0.00299521 0.0149 Uncertain 17_78972326_A->G 17 78972326 78972326 A G snp 936.77 1/1 69 33 0 33 1.0 intronic rs10871491 CHMP6 AU NM_024591 exon7 c.6502+106A>G 0.996006 0.9812 0.9987 0.9825 Uncertain 17_79006850_T->C 17 79006850 79006850 T C snp 3233.06 0/1 99 250 118 132 0.53 ncRNA_exonic rs11870986 BAIAP2-AS1 AU 0.530351 0.377 0.5257 0.4040 Uncertain 17_79007075_C->A 17 79007075 79007075 C A snp 604.77 0/1 99 59 32 27 0.46 ncRNA_exonic rs11150764 BAIAP2-AS1 AU 0.682109 0.6706 0.7624 0.7222 Uncertain 17_79009153_T->C 17 79009153 79009153 T C snp 2319.77 1/1 99 80 0 80 1.0 intronic rs8073224 BAIAP2 AU NM_017451 exon1 c.54+45T>C 0.902556 0.9395 0.884343 0.9064 0.9256 Uncertain 17_79010533_G->A 17 79010533 79010533 G A snp 695.77 0/1 99 63 32 31 0.49 intronic rs4969350 BAIAP2 AU NM_017451 exon1 c.54+1425G>A 0.737021 0.6508 Uncertain 17_79010544_A->G 17 79010544 79010544 A G snp 1129.77 0/1 99 84 39 45 0.54 intronic rs4969239 BAIAP2 AU NM_017451 exon1 c.54+1436A>G 0.16873 0.2907 Uncertain 17_79010609_A->T 17 79010609 79010609 A T snp 1561.77 0/1 99 135 61 74 0.55 intronic rs28585511 BAIAP2 AU NM_017451 exon1 c.54+1501A>T 0.0936502 0.2579 Uncertain 17_79010839_A->C 17 79010839 79010839 A C snp 539.77 1/1 42 15 0 15 1.0 intronic rs6565527 BAIAP2 AU NM_017451 exon1 c.54+1731A>C 0.923722 0.9087 Uncertain 17_79031774_CCC->- 17 79031774 79031776 CCC - indel 703.73 0/1 99 60 14 46 0.77 intronic rs60972273 BAIAP2 AU NM_017451 exon3 c.22713+7_22713+9delCCC 0.0458 0.01 Uncertain 17_79031825_G->A 17 79031825 79031825 G A snp 332.77 0/1 99 20 5 15 0.75 intronic rs9898347 BAIAP2 AU NM_017451 exon3 c.22713+58G>A 0.283347 0.4048 Uncertain 17_79059230_C->T 17 79059230 79059230 C T snp 2551.77 0/1 99 232 125 107 0.46 intronic rs8080815 BAIAP2 AU NM_017451 exon5 c.50399-223C>T 0.266773 0.5119 0.3589 0.6107 Uncertain 17_79060474_C->G 17 79060474 79060474 C G snp 154.9 1/1 15 5 0 5 1.0 intronic rs41292398 BAIAP2 AU NM_017451 exon6 c.51326+94C>G 0.267173 0.5119 Uncertain 17_79072011_A->G 17 79072011 79072011 A G snp 4079.77 1/1 99 157 0 157 1.0 intronic rs72634327 BAIAP2 AU NM_017451 exon7 c.64673-1716A>G 0.253594 0.5139 0.3218 0.6441 Uncertain 17_79077957_T->C 17 79077957 79077957 T C snp 3344.77 1/1 99 120 0 120 1.0 intronic rs34057293 BAIAP2 AU NM_017451 exon9 c.68854+49T>C 0.800319 0.8641 0.742189 0.7664 0.8668 Uncertain 17_79077971_C->T 17 79077971 79077971 C T snp 1362.77 0/1 99 102 48 54 0.53 intronic rs150419871 BAIAP2 AU NM_017451 exon9 c.68854+63C>T 0.00958466 0.0456 Uncertain 17_79077980_A->C 17 79077980 79077980 A C snp 2747.77 1/1 99 88 0 88 1.0 intronic rs57792378 BAIAP2 AU NM_017451 exon9 c.68854+72A>C 0.806709 0.8651 Uncertain 17_79082862_G->A 17 79082862 79082862 G A snp 5335.77 1/1 99 217 1 216 1.0 intronic rs11664 BAIAP2 AU NM_017450 exon14 c.73713+95G>A 0.283546 0.5119 0.253287 Uncertain 17_79089428_A->C 17 79089428 79089428 A C snp 847.77 1/1 63 25 0 25 1.0 intronic rs12450670 BAIAP2 AU NM_017451 exon14 c.80515-141A>C 0.825679 0.879 Uncertain 17_79090198_C->T 17 79090198 79090198 C T snp 645.77 1/1 48 22 0 22 1.0 UTR3 rs62073016 BAIAP2 AU 0.35603 0.5367 Uncertain 17_79092463_C->T 17 79092463 79092463 C T snp 54.74 1/1 6 2 0 2 1.0 intronic rs62073017 AATK AU NM_001080395 exon1 c.41+221C>T 0.367812 0.5407 Uncertain 17_79093142_-->CGCGTGCCCTACCTCT 17 79093142 79093142 - CGCGTGCCCTACCTCT indel 3845.73 1/1 63 22 0 22 1.0 intronic rs11275051 AATK AU NM_001080395 exon2 c.978-37insCGCGTGCCCTACCTCT 0.7188 0.7234 Uncertain 17_79093427_C->T 17 79093427 79093427 C T snp 475.77 1/1 36 18 0 18 1.0 intronic rs62073018 AATK AU NM_001080395 exon2 c.1179+47C>T 0.48762 0.7222 0.421872 0.6043 0.7761 Uncertain 17_79093822_A->G 17 79093822 79093822 A G snp 1735.77 1/1 99 63 0 63 1.0 exonic rs36000545 AATK AU nonsynonymous SNV NM_004920 exon11 c.T3488C p.F1163S 0.359824 0.5437 0.278901 0.4890 0.6369 0.55 T 0.0 P -0.920 T 0.001 T 0.001 T Pathogenic 17_79095144_G->A 17 79095144 79095144 G A snp 2510.77 1/1 99 86 0 86 1.0 exonic rs8073904 AATK AU synonymous SNV NM_004920 exon10 c.C2283T p.A761A 0.805312 0.8611 0.850751 0.8247 0.8681 1.000 P -1.098 T Likely benign 17_79095629_C->A 17 79095629 79095629 C A snp 2074.77 1/1 99 81 0 81 1.0 exonic rs7503604 AATK AU nonsynonymous SNV NM_004920 exon10 c.G1798T p.G600C 0.55651 0.6419 0.464545 0.6021 0.6537 0.18 T 0.0 P -1.000 T 0.002 T 0.001 T Pathogenic 17_79098839_GCAGGGTGA->- 17 79098839 79098847 GCAGGGTGA - indel 2686.73 1/1 75 38 0 38 1.0 intronic rs141491493 AATK AU NM_001080395 exon7 c.6613+25_6613+33delGCAGGGTGA 0.859824 0.9881 0.796026 0.7607 0.9722 Uncertain 17_79098926_G->A 17 79098926 79098926 G A snp 289.78 1/1 24 9 0 9 1.0 intronic rs12950045 AATK AU NM_001080395 exon7 c.6613+112G>A 0.425319 0.7351 Uncertain 17_79102194_AGG->- 17 79102194 79102196 AGG - indel 538.74 1/1 30 10 0 10 1.0 intronic rs398031756 AATK AU NM_001080395 exon11 c.10068-75_10068-73delAGG 0.482228 0.7738 Uncertain 17_79104762_C->T 17 79104762 79104762 C T snp 52.74 1/1 6 2 0 2 1.0 intronic rs8073182 AATK AU NM_001080395 exon12 c.12659-98C>T 0.439297 0.7212 Uncertain 17_79105850_T->C 17 79105850 79105850 T C snp 1557.77 1/1 99 56 0 56 1.0 intronic rs4969253 AATK AU NM_004920 exon13 c.13547+102T>C 0.858227 0.9891 Uncertain 17_79106280_G->A 17 79106280 79106280 G A snp 56.74 1/1 6 2 0 2 1.0 intronic rs4075839 AATK AU NM_004920 exon13 c.13547+532G>A 0.604233 0.9038 Uncertain 17_79108141_A->G 17 79108141 79108141 A G snp 4699.77 1/1 99 172 0 172 1.0 intronic rs4969397 AATK AU NM_001080395 exon13 c.15966-26A>G 0.858826 0.9891 0.8406 0.9845 Uncertain 17_79139473_C->G 17 79139473 79139473 C G snp 900.77 0/1 99 83 43 40 0.48 ncRNA_exonic rs2659034 AATK-AS1 AU 0.282947 0.4256 0.259860 0.3237 0.5174 Uncertain 17_79155116_A->G 17 79155116 79155116 A G snp 2497.77 0/1 99 231 124 107 0.46 ncRNA_exonic rs906180 AATK-AS1 AU 0.816294 0.8363 0.823040 0.8405 0.8593 Uncertain 17_79163649_G->A 17 79163649 79163649 G A snp 450.77 0/1 99 48 27 21 0.44 splicing rs2292182 CEP131 AU NM_014984 exon1 c.75+6G>A 0.202276 0.1925 0.200907 0.2438 0.1565 Pathogenic 17_79164390_G->A 17 79164390 79164390 G A snp 80.78 0/1 24 5 1 4 0.8 intronic rs112626893 CEP131 AU NM_014984 exon3 c.870-48G>A 0.125399 0.1359 0.075724 0.0814 0.1396 Uncertain 17_79164950_G->C 17 79164950 79164950 G C snp 1826.77 0/1 99 148 69 79 0.53 intronic rs79050108 CEP131 AU NM_014984 exon5 c.1424-42G>C 0.124601 0.1389 0.089819 0.0739 0.1153 Uncertain 17_79165171_G->A 17 79165171 79165171 G A snp 2014.77 0/1 99 161 78 83 0.52 intronic rs869370 CEP131 AU NM_014984 exon5 c.1567+36G>A 0.436102 0.6667 0.362937 0.5076 0.6992 Uncertain 17_79165225_C->T 17 79165225 79165225 C T snp 669.77 0/1 99 51 28 23 0.45 intronic rs113931593 CEP131 AU NM_014984 exon5 c.1567+90C>T 0.1252 0.1389 Uncertain 17_79166103_T->C 17 79166103 79166103 T C snp 159.77 0/1 99 20 11 9 0.45 intronic rs870187 CEP131 AU NM_014984 exon6 c.2549-14T>C 0.415735 0.1558 0.545184 0.4129 0.1653 Uncertain 17_79166201_C->T 17 79166201 79166201 C T snp 438.77 0/1 99 57 34 23 0.4 intronic rs2279916 CEP131 AU NM_014984 exon6 c.2624+9C>T 0.125 0.1389 0.088013 0.0929 0.1376 Uncertain 17_79166384_C->T 17 79166384 79166384 C T snp 419.77 0/1 99 29 14 15 0.52 exonic rs3744150 CEP131 AU synonymous SNV NM_001009811 exon19 c.G2331A p.A777A 0.154353 0.1389 0.119809 0.0977 0.1204 Uncertain 17_79166468_G->- 17 79166468 79166468 G - indel 311.73 0/1 99 18 6 12 0.67 intronic rs3833101 CEP131 AU NM_014984 exon8 c.2967-67delG 0.125 0.1389 Uncertain 17_79166473_C->T 17 79166473 79166473 C T snp 233.03 0/1 99 26 6 20 0.77 intronic rs3744149 CEP131 AU NM_014984 exon8 c.2967-62C>T 0.15655 0.1389 Uncertain 17_79168912_-->ACACATGCCAGCTCCAG 17 79168912 79168912 - ACACATGCCAGCTCCAG indel 1889.73 0/1 99 21 7 14 0.67 intronic rs143947172 CEP131 AU NM_014984 exon10 c.5204+140insACACATGCCAGCTCCAG 0.124002 0.1379 Uncertain 17_79169552_G->A 17 79169552 79169552 G A snp 108.77 0/1 99 8 4 4 0.5 intronic rs79578325 CEP131 AU NM_014984 exon11 c.6066-82G>A 0.111222 0.1379 Uncertain 17_79169641_G->A 17 79169641 79169641 G A snp 718.77 0/1 99 59 27 32 0.54 exonic rs61741559 CEP131 AU synonymous SNV NM_001009811 exon16 c.C2010T p.H670H 0.123602 0.1379 0.087883 0.0738 0.1157 Uncertain 17_79169837_G->C 17 79169837 79169837 G C snp 1573.77 0/1 99 130 58 72 0.55 intronic rs79037566 CEP131 AU NM_014984 exon11 c.6183+86G>C 0.124002 0.1379 Uncertain 17_79169944_C->T 17 79169944 79169944 C T snp 114.78 0/1 27 5 1 4 0.8 intronic rs8071693 CEP131 AU NM_014984 exon11 c.6183+193C>T 0.124201 0.1379 Uncertain 17_79170578_C->T 17 79170578 79170578 C T snp 937.77 0/1 99 82 42 40 0.49 exonic rs4613097 CEP131 AU nonsynonymous SNV NM_001009811 exon15 c.G1822A p.A608T 0.111422 0.1379 0.082870 0.0876 0.1462 0.32 T 0.899 P -1.019 T 0.763 T 0.364 P Pathogenic 17_79171967_A->G 17 79171967 79171967 A G snp 1927.77 1/1 99 66 0 66 1.0 exonic rs2659016 CEP131 AU nonsynonymous SNV NM_001009811 exon12 c.T1418C p.V473A 0.967652 1 0.969456 0.9900 0.9997 0.65 T 0.0 P -0.962 T 0.0 T 0.001 T Pathogenic 17_79173184_T->C 17 79173184 79173184 T C snp 1492.77 1/1 99 48 0 48 1.0 exonic rs2659015 CEP131 AU nonsynonymous SNV NM_001009811 exon10 c.A1189G p.T397A 0.940695 0.9623 0.944367 0.9606 0.9612 1 T 0.0 P -0.924 T 0.0 T 0.002 T Pathogenic 17_79173224_T->C 17 79173224 79173224 T C snp 1977.77 1/1 99 74 0 74 1.0 exonic rs2725419 CEP131 AU synonymous SNV NM_001009811 exon10 c.A1149G p.T383T 0.909345 0.9157 0.917758 0.9466 0.9137 Uncertain 17_79173398_A->G 17 79173398 79173398 A G snp 435.77 0/1 99 34 18 16 0.47 intronic rs906176 CEP131 AU NM_014984 exon17 c.9781+49A>G 0.461262 0.6319 0.375907 0.5208 0.6754 Uncertain 17_79173462_C->T 17 79173462 79173462 C T snp 369.77 0/1 99 33 15 18 0.55 intronic rs906175 CEP131 AU NM_014984 exon18 c.9950-56C>T 0.420128 0.63 Uncertain 17_79174221_T->C 17 79174221 79174221 T C snp 1724.77 1/1 99 66 0 66 1.0 exonic rs2466773 CEP131 AU nonsynonymous SNV NM_001009811 exon8 c.A814G p.T272A 0.944089 0.9623 0.947447 0.9589 0.9624 1 T 0.000 P -0.961 T 0.0 T 0.0 T Pathogenic 17_79180369_C->G 17 79180369 79180369 C G snp 1264.77 0/1 99 79 35 44 0.56 intronic rs55844247 CEP131 AU NM_014984 exon22 c.16975-174C>G 0.343051 0.1845 Uncertain 17_79180775_A->G 17 79180775 79180775 A G snp 3454.77 1/1 99 107 0 107 1.0 intronic rs2256881 CEP131 AU NM_014984 exon22 c.17103+104A>G 0.90016 0.881 Uncertain 17_79182667_A->G 17 79182667 79182667 A G snp 561.77 1/1 42 16 0 16 1.0 intronic rs9896314 CEP131 AU NM_014984 exon24 c.19159-60A>G 0.897364 0.871 Uncertain 17_79182778_T->C 17 79182778 79182778 T C snp 943.77 0/1 99 79 39 40 0.51 exonic rs62075318 CEP131 AU synonymous SNV NM_001009811 exon3 c.A222G p.R74R 0.41853 0.626 0.346225 0.4904 0.6567 Uncertain 17_79202956_T->C 17 79202956 79202956 T C snp 1376.77 0/1 99 139 75 64 0.46 exonic rs2048057 ENTHD2 AU synonymous SNV NM_144679 exon12 c.A1350G p.P450P 0.460863 0.6756 0.363601 0.5180 0.6977 Uncertain 17_79204661_C->G 17 79204661 79204661 C G snp 43.77 0/1 72 4 2 2 0.5 intronic rs12937612 ENTHD2 AU NM_144679 exon2 c.1751+183C>G 0.358626 0.1944 Uncertain 17_79213141_C->T 17 79213141 79213141 C T snp 50.74 1/1 6 2 0 2 1.0 UTR5 rs74778772 C17orf89 AU 0.0800719 0.1548 0.052048 0.0909 0.2179 Uncertain 17_79213305_G->A 17 79213305 79213305 G A snp 241.77 0/1 99 26 14 12 0.46 intronic rs2659009 C17orf89 AU NM_001086521 exon1 c.84+58G>A 0.623802 0.7907 Uncertain 17_79213562_T->C 17 79213562 79213562 T C snp 598.77 0/1 99 56 30 26 0.46 intronic rs2255166 C17orf89 AU NM_001086521 exon2 c.315+84T>C 0.434105 0.6905 Uncertain 17_79219501_ATG->- 17 79219501 79219503 ATG - indel 2657.73 0/1 99 110 57 53 0.48 exonic rs10569617 SLC38A10 AU nonframeshift deletion NM_001037984 exon16 c.3213_3215del p.1071_1072del 0.422125 0.6776 0.331628 0.4777 0.7039 ID=COSM437767;OCCURENCE=4(breast),1(endometrium) Uncertain 17_79220016_T->C 17 79220016 79220016 T C snp 1779.77 0/1 99 155 79 76 0.49 exonic rs61740863 SLC38A10 AU synonymous SNV NM_001037984 exon16 c.A2700G p.A900A 0.0832668 0.1587 0.071149 0.0787 0.1374 Uncertain 17_79220224_G->C 17 79220224 79220224 G C snp 947.77 0/1 99 66 29 37 0.56 exonic rs2725405 SLC38A10 AU nonsynonymous SNV NM_001037984 exon16 c.C2492G p.A831G 0.428514 0.7004 0.328726 0.4905 0.7394 0.19 T 0.0 P -0.926 T 0.666 T 0.162 P Pathogenic 17_79226362_G->A 17 79226362 79226362 G A snp 2684.77 0/1 99 240 125 115 0.48 exonic rs3803767 SLC38A10 AU synonymous SNV NM_001037984 exon13 c.C1578T p.H526H 0.0682907 0.1488 0.066354 0.0760 0.1261 Uncertain 17_79227075_C->G 17 79227075 79227075 C G snp 1091.77 0/1 99 80 31 49 0.61 intronic rs72860029 SLC38A10 AU NM_001037984 exon5 c.7685+35C>G 0.0720847 0.1548 0.065970 0.0769 0.1315 Uncertain 17_79244802_T->C 17 79244802 79244802 T C snp 1574.77 0/1 99 139 68 71 0.51 exonic rs2292184 SLC38A10 AU synonymous SNV NM_001037984 exon10 c.A1047G p.T349T 0.429113 0.1825 0.533446 0.3999 0.1593 Uncertain 17_79244950_C->T 17 79244950 79244950 C T snp 497.77 0/1 99 34 15 19 0.56 intronic rs111873357 SLC38A10 AU NM_001037984 exon7 c.25469+126C>T 0.0676917 0.1458 Uncertain 17_79246270_-->C 17 79246270 79246270 - C indel 279.73 0/1 99 19 9 10 0.53 intronic rs3841622 SLC38A10 AU NM_001037984 exon8 c.26960-45insC 0.440695 0.1835 0.541134 0.4080 0.1607 Uncertain 17_79246605_A->G 17 79246605 79246605 A G snp 146.77 0/1 99 11 5 6 0.55 intronic rs2271090 SLC38A10 AU NM_001037984 exon8 c.27072+178A>G 0.451278 0.1835 Uncertain 17_79249997_C->T 17 79249997 79249997 C T snp 1918.77 0/1 99 147 69 78 0.53 intronic rs9898133 SLC38A10 AU NM_001037984 exon9 c.30596+46C>T 0.427915 0.1825 0.533071 0.4650 0.2106 Uncertain 17_79254485_G->A 17 79254485 79254485 G A snp 1151.77 0/1 99 96 48 48 0.5 exonic rs200753630 SLC38A10 AU nonsynonymous SNV NM_001037984 exon6 c.C550T p.R184W 0.00399361 0.0198 0.0020 0.0242 0.03 T 0.986 N -0.849 T 0.977 D 0.663 D Pathogenic 17_79255912_C->T 17 79255912 79255912 C T snp 1610.77 0/1 99 150 83 67 0.45 intronic rs7213540 SLC38A10 AU NM_001037984 exon12 c.36633-76C>T 0.52476 0.3065 Uncertain 17_79258615_G->A 17 79258615 79258615 G A snp 1068.77 0/1 99 92 45 47 0.51 intronic rs80261071 SLC38A10 AU NM_001037984 exon14 c.39294-34G>A 0.0690895 0.1458 0.059264 0.1087 0.2299 Uncertain 17_79258787_A->G 17 79258787 79258787 A G snp 1642.77 0/1 99 122 56 66 0.54 intronic rs8077394 SLC38A10 AU NM_001037984 exon14 c.39340+92A>G 0.539936 0.3125 Uncertain 17_79268562_A->G 17 79268562 79268562 A G snp 889.77 0/1 99 89 49 40 0.45 intronic rs8064597 SLC38A10 AU NM_001037984 exon16 c.49267-60A>G 0.567093 0.3175 Uncertain 17_79278357_C->G 17 79278357 79278357 C G snp 1769.77 0/1 99 152 75 77 0.51 ncRNA_exonic rs11871509 LINC00482 AU 0.330671 0.2887 0.311660 0.3805 0.3999 Uncertain 17_79287971_C->T 17 79287971 79287971 C T snp 80.77 0/1 92 6 3 3 0.5 intronic rs60414480 TMEM105 AU NM_178520 exon1 c.335+186C>T 0.161142 0.1577 Uncertain 17_79288124_C->T 17 79288124 79288124 C T snp 649.77 0/1 99 54 26 28 0.52 intronic rs9891595 TMEM105 AU NM_178520 exon2 c.757-83C>T 0.311302 0.2401 Uncertain 17_79288337_C->G 17 79288337 79288337 C G snp 107.77 0/1 99 14 10 4 0.29 intronic rs78567895 TMEM105 AU NM_178520 exon2 c.831+56C>G 0.170527 0.1607 0.183749 Uncertain 17_79288355_C->T 17 79288355 79288355 C T snp 71.77 0/1 99 9 6 3 0.33 intronic TMEM105 AU NM_178520 exon2 c.831+74C>T Uncertain 17_79372928_-->GT 17 79372928 79372928 - GT indel 1651.73 ./1 99 37 2 35 0.95 upstream BAHCC1 AU 0.0863 0.2407 Uncertain 17_79372928_-->GTGT 17 79372928 79372928 - GTGT indel 1651.73 ./1 99 37 2 35 0.95 upstream BAHCC1 AU 0.566693 0.8839 0.2598 0.4815 Uncertain 17_79373203_C->A 17 79373203 79373203 C A snp 35.74 1/1 6 3 0 3 1.0 upstream rs182760976 BAHCC1 AU 0.635982 0.9028 Uncertain 17_79380547_T->C 17 79380547 79380547 T C snp 50.74 1/1 6 2 0 2 1.0 intronic rs1531554 BAHCC1 AU NM_001291324 exon1 c.178+6830T>C 0.569888 0.6905 Uncertain 17_79384819_A->G 17 79384819 79384819 A G snp 596.77 0/1 99 64 41 23 0.36 intronic BAHCC1 AU NM_001291324 exon1 c.178+11102A>G 0.279153 0.5069 Uncertain 17_79385044_C->T 17 79385044 79385044 C T snp 117.77 0/1 99 20 13 7 0.35 intronic BAHCC1 AU NM_001291324 exon1 c.178+11327C>T 0.252995 0.4891 Uncertain 17_79389251_C->T 17 79389251 79389251 C T snp 3515.77 1/1 99 130 0 130 1.0 intronic BAHCC1 AU NM_001291324 exon2 c.28936-13224C>T 0.880591 0.999 0.807730 0.8238 0.9988 Uncertain 17_79389486_G->A 17 79389486 79389486 G A snp 366.77 1/1 30 10 0 10 1.0 intronic BAHCC1 AU NM_001291324 exon2 c.28936-12989G>A 0.714657 0.8968 Uncertain 17_79390270_T->C 17 79390270 79390270 T C snp 83.77 0/1 52 6 3 3 0.5 intronic BAHCC1 AU NM_001291324 exon2 c.28936-12205T>C Uncertain 17_79390271_G->A 17 79390271 79390271 G A snp 43.77 0/1 51 6 4 2 0.33 intronic BAHCC1 AU NM_001291324 exon2 c.28936-12204G>A Uncertain 17_79390277_G->A 17 79390277 79390277 G A snp 812.53 1/1 3 32 3 29 0.91 intronic BAHCC1 AU NM_001291324 exon2 c.28936-12198G>A Uncertain 17_79390298_-->GC 17 79390298 79390298 - GC indel 2032.73 1/1 99 45 3 42 0.93 intronic BAHCC1 AU NM_001291324 exon2 c.28936-12177insGC 0.481629 0.494 Uncertain 17_79390371_GT->- 17 79390371 79390372 GT - indel 2219.73 0/1 99 107 46 61 0.57 intronic rs36169187 BAHCC1 AU NM_001291324 exon2 c.28936-12104_28936-12103delGT Uncertain 17_79395814_-->T 17 79395814 79395814 - T indel 1473.73 1/1 99 68 1 67 0.99 intronic rs34098647 BAHCC1 AU NM_001291324 exon2 c.28936-6661insT 0.644968 0.8135 0.5013 0.5417 Uncertain 17_79409309_A->G 17 79409309 79409309 A G snp 2629.77 1/1 99 103 0 103 1.0 exonic BAHCC1 AU unknown 1 1 1 1 0.8 T 0.0 P -1.007 T 0.0 T 0.0 T Uncertain 17_79409358_C->G 17 79409358 79409358 C G snp 635.77 0/1 99 73 43 30 0.41 exonic rs782779018 BAHCC1 AU unknown 0.0008 0 0.51 T 1 N -0.931 T 0.127 T 0.029 T Uncertain 17_79409434_A->G 17 79409434 79409434 A G snp 522.77 0/1 99 35 16 19 0.54 exonic rs12939225 BAHCC1 AU unknown 0.494609 0.1984 0.611483 0.4826 0.2234 Uncertain 17_79410256_G->A 17 79410256 79410256 G A snp 2600.77 0/1 99 204 93 111 0.54 exonic rs79567715 BAHCC1 AU unknown 0.118211 0.1667 0.025854 0.0603 0.1438 Uncertain 17_79414307_A->G 17 79414307 79414307 A G snp 1365.77 0/1 99 106 53 53 0.5 exonic BAHCC1 AU unknown 0.672324 0.4702 0.784746 0.7481 0.5309 0.91 T 0.0 P -1.009 T 0.0 T 0.0 T Uncertain 17_79414914_A->G 17 79414914 79414914 A G snp 886.77 0/1 99 77 44 33 0.43 intronic BAHCC1 AU NM_001291324 exon11 c.41335+40A>G 0.665335 0.4593 0.789728 0.6764 0.4598 Uncertain 17_79418260_A->G 17 79418260 79418260 A G snp 1227.77 0/1 99 116 62 54 0.47 intronic BAHCC1 AU NM_001291324 exon12 c.45154-433A>G 0.66254 0.4554 0.7497 0.4677 Uncertain 17_79418770_C->T 17 79418770 79418770 C T snp 970.77 0/1 99 68 33 35 0.51 exonic BAHCC1 AU unknown 0.163339 0.2788 0.151462 0.2058 0.3087 Uncertain 17_79418983_-->C 17 79418983 79418983 - C indel 409.73 0/1 99 59 37 22 0.37 intronic rs34593866 BAHCC1 AU NM_001291324 exon13 c.45457-13insC 0.243011 0.2788 0.2839 0.3529 Uncertain 17_79424516_A->G 17 79424516 79424516 A G snp 772.77 0/1 99 92 55 37 0.4 exonic BAHCC1 AU unknown 0.645767 0.4266 0.792281 0.7368 0.4881 0.52 T 0.0 P -1.024 T 0.0 T 0.0 T Uncertain 17_79425141_C->T 17 79425141 79425141 C T snp 145.77 0/1 99 16 9 7 0.44 intronic BAHCC1 AU NM_001291324 exon18 c.51651-49C>T 0.161941 0.2708 0.126405 0.1585 0.2820 Uncertain 17_79426481_A->G 17 79426481 79426481 A G snp 1148.77 0/1 99 72 31 41 0.57 intronic BAHCC1 AU NM_001291324 exon23 c.52982-40A>G 0.655351 0.4355 0.786316 0.7282 0.4377 Uncertain 17_79426708_C->G 17 79426708 79426708 C G snp 3689.77 1/1 99 125 0 125 1.0 intronic BAHCC1 AU NM_001291324 exon23 c.53091+78C>G 0.339856 0.5804 Uncertain 17_79427258_G->A 17 79427258 79427258 G A snp 527.77 0/1 99 43 22 21 0.49 intronic BAHCC1 AU NM_001291324 exon24 c.53763-44G>A 0.190495 0.4365 0.095096 0.1982 0.4609 Uncertain 17_79427794_C->G 17 79427794 79427794 C G snp 690.77 0/1 99 54 30 24 0.44 intronic BAHCC1 AU NM_001291324 exon25 c.54193+62C>G 0.139577 0.2589 Uncertain 17_79427822_C->T 17 79427822 79427822 C T snp 1854.77 1/1 99 70 0 70 1.0 intronic BAHCC1 AU NM_001291324 exon26 c.54352-69C>T 0.486621 0.8919 Uncertain 17_79428835_C->G 17 79428835 79428835 C G snp 1495.77 0/1 99 121 59 62 0.51 exonic BAHCC1 AU unknown Uncertain 17_79429228_A->G 17 79429228 79429228 A G snp 43.77 0/1 72 4 2 2 0.5 intronic BAHCC1 AU NM_001291324 exon26 c.55533+156A>G 0.389976 0.6875 Uncertain 17_79429711_C->T 17 79429711 79429711 C T snp 1626.77 1/1 99 58 0 58 1.0 intronic BAHCC1 AU NM_001291324 exon27 c.56226-54C>T 0.503994 0.8294 Uncertain 17_79429852_C->T 17 79429852 79429852 C T snp 1773.77 0/1 99 158 78 80 0.51 exonic BAHCC1 AU unknown 0.140375 0.254 0.136313 0.1598 0.2845 Uncertain 17_79477899_C->- 17 79477899 79477899 C - indel 5916.73 1/1 99 165 0 165 1.0 intronic ACTG1 AD NM_001199954 exon1 c.144+40delC 0.439097 0.8254 0.245927 0.3470 0.8623 Uncertain 17_79478019_G->A 17 79478019 79478019 G A snp 2270.77 1/1 99 68 0 68 1.0 exonic ACTG1 AD synonymous SNV NM_001614 exon5 c.C918T p.Y306Y 0.75619 0.8433 0.754575 0.7902 0.8763 Uncertain 17_79478870_C->A 17 79478870 79478870 C A snp 1096.77 1/1 78 40 0 40 1.0 intronic ACTG1 AD NM_001199954 exon4 c.1213-58C>A 0.425319 0.8254 0.3278 0.8580 Uncertain 17_79478871_C->T 17 79478871 79478871 C T snp 1096.77 1/1 78 40 0 40 1.0 intronic ACTG1 AD NM_001199954 exon4 c.1213-57C>T 0.442093 0.8254 0.3484 0.8583 Uncertain 17_79478903_G->A 17 79478903 79478903 G A snp 584.77 0/1 99 50 22 28 0.56 intronic ACTG1 AD NM_001199954 exon4 c.1213-25G>A 1.665e-05 0 Uncertain 17_79478916_G->T 17 79478916 79478916 G T snp 1314.77 1/1 96 49 0 49 1.0 intronic ACTG1 AD NM_001199954 exon4 c.1213-12G>T 0.558906 0.8413 0.419365 0.4989 0.8739 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000037123.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 17_79495519_C->T 17 79495519 79495519 C T snp 4047.77 1/1 99 144 0 144 1.0 UTR5 FSCN2 AU 0.72484 0.7669 0.756180 0.7948 0.7953 Uncertain 17_79502316_A->C 17 79502316 79502316 A C snp 182.9 1/1 15 7 0 7 1.0 intronic rs138055235 FSCN2 AU NM_012418 exon2 c.6677+82A>C 0.744609 0.8333 Uncertain 17_79502346_C->A 17 79502346 79502346 C A snp 48.74 1/1 6 2 0 2 1.0 intronic rs149535219 FSCN2 AU NM_012418 exon2 c.6677+112C>A Uncertain 17_79508263_A->G 17 79508263 79508263 A G snp 855.77 1/1 63 29 0 29 1.0 intronic rs62076028 C17orf70 AU NM_025161 exon2 c.490-71A>G 0.619409 0.6171 Uncertain 17_79508400_T->C 17 79508400 79508400 T C snp 2342.77 1/1 99 87 0 87 1.0 exonic rs14422 C17orf70 AU nonsynonymous SNV NM_025161 exon8 c.A2449G p.T817A 0.946486 0.999 0.923888 0.9258 0.9998 1 T 0.000 P -1.002 T 0.0 T 0.0 T Pathogenic 17_79508484_G->A 17 79508484 79508484 G A snp 1418.77 1/1 99 53 0 53 1.0 intronic rs58483803 C17orf70 AU NM_025161 exon2 c.577+63G>A 0.561901 0.6171 Uncertain 17_79508506_G->T 17 79508506 79508506 G T snp 1198.77 1/1 87 43 0 43 1.0 intronic rs2228698 C17orf70 AU NM_025161 exon2 c.577+85G>T 0.764776 0.7312 Uncertain 17_79510899_A->G 17 79510899 79510899 A G snp 1438.77 1/1 99 49 0 49 1.0 intronic rs7406506 C17orf70 AU NM_025161 exon3 c.3185-130A>G 0.597843 0.619 Uncertain 17_79511135_A->G 17 79511135 79511135 A G snp 3842.77 1/1 99 138 0 138 1.0 exonic rs8077430 C17orf70 AU synonymous SNV NM_025161 exon7 c.T2322C p.T774T 0.704473 0.7371 0.697138 0.7571 0.7522 Uncertain 17_79513882_A->- 17 79513882 79513882 A - indel 142.73 0/1 99 35 18 17 0.49 intronic rs369579337 C17orf70 AU NM_025161 exon5 c.6090-52delA Uncertain 17_79514129_G->A 17 79514129 79514129 G A snp 4525.77 1/1 99 163 1 162 0.99 exonic rs11552304 C17orf70 AU nonsynonymous SNV NM_025161 exon5 c.C1979T p.P660L 0.55631 0.621 0.578048 0.6217 0.6550 0.64 T 0.0 P -0.955 T 0.65 T 0.103 P Pathogenic 17_79514832_G->A 17 79514832 79514832 G A snp 4491.77 1/1 99 154 0 154 1.0 intronic rs7224579 C17orf70 AU NM_025161 exon5 c.6860+128G>A 0.55631 0.62 0.6728 0.6855 0.0 P -0.940 T 0.0 T 0.0 T Uncertain 17_79515075_A->G 17 79515075 79515075 A G snp 934.77 1/1 69 27 0 27 1.0 intronic rs6565593 C17orf70 AU NM_025161 exon5 c.6860+371A>G 0.599042 0.619 0.6861 0.6263 Uncertain 17_79518369_A->G 17 79518369 79518369 A G snp 41.77 0/1 70 4 2 2 0.5 intronic rs3924327 C17orf70 AU NM_025161 exon7 c.10385+140A>G 0.219848 0.5169 Uncertain 17_79519382_G->A 17 79519382 79519382 G A snp 1053.77 1/1 78 31 1 30 0.97 UTR5 rs4076968 C17orf70 AU 0.553514 0.6071 0.7583 . Uncertain 17_79573860_-->TTAA 17 79573860 79573860 - TTAA indel 1337.73 0/1 99 40 17 23 0.57 intronic rs10695650 NPLOC4 AU NM_017921 exon11 c.47556+20insTTAA 0.357628 0.2242 0.4534 0.2375 Uncertain 17_79580173_C->T 17 79580173 79580173 C T snp 173.77 0/1 99 14 8 6 0.43 intronic rs6565601 NPLOC4 AU NM_017921 exon14 c.54059-170C>T 0.643371 0.7758 Uncertain 17_79580457_C->A 17 79580457 79580457 C A snp 1292.77 0/1 99 118 69 49 0.42 exonic rs17852306 NPLOC4 AU synonymous SNV NM_017921 exon4 c.G273T p.T91T 0.0854633 0.2212 0.039115 0.0511 0.2291 Uncertain 17_79589242_G->A 17 79589242 79589242 G A snp 1315.77 0/1 99 141 80 61 0.43 exonic rs6565604 NPLOC4 AU synonymous SNV NM_017921 exon3 c.C159T p.T53T 0.642772 0.7768 0.527075 0.5472 0.7704 Uncertain 17_79589359_C->T 17 79589359 79589359 C T snp 668.77 0/1 99 59 31 28 0.47 intronic rs6565605 NPLOC4 AU NM_017921 exon15 c.63020+55C>T 0.629792 0.7768 Uncertain 17_79589371_A->G 17 79589371 79589371 A G snp 479.77 0/1 99 45 23 22 0.49 intronic rs6565606 NPLOC4 AU NM_017921 exon15 c.63020+67A>G 0.428115 0.6944 Uncertain 17_79596811_C->T 17 79596811 79596811 C T snp 2711.77 0/1 99 226 111 115 0.51 exonic rs9894429 NPLOC4 AU synonymous SNV NM_017921 exon2 c.G36A p.P12P 0.674121 0.7768 0.557792 0.5550 0.7705 Uncertain 17_79603741_T->C 17 79603741 79603741 T C snp 56.74 1/1 6 2 0 2 1.0 intronic rs7502346 NPLOC4 AU NM_017921 exon17 c.77657-200T>C 0.760383 0.996 Uncertain 17_79603831_A->G 17 79603831 79603831 A G snp 362.78 1/1 27 14 0 14 1.0 intronic rs9895741 NPLOC4 AU NM_017921 exon17 c.77657-110A>G 0.844649 0.996 Uncertain 17_79604478_TTTTT->- 17 79604478 79604482 TTTTT - indel 7264.73 ./1 99 174 0 174 1.0 intronic rs57463122 TSPAN10 AU NM_001290212 exon1 c.8+46_8+50delTTTTT 0.585663 0.7758 0.5672 0.7692 Uncertain 17_79604478_T->- 17 79604478 79604478 T - indel 7264.73 ./1 99 174 0 174 1.0 intronic rs538824329 TSPAN10 AU NM_001290212 exon1 c.8+46delT 0.0880591 0.2202 0.0573 0.2154 Uncertain 17_79604494_T->C 17 79604494 79604494 T C snp 3321.77 1/1 99 124 0 124 1.0 intronic rs28660208 TSPAN10 AU NM_001290212 exon1 c.8+62T>C 0.671526 0.996 Uncertain 17_79604511_A->C 17 79604511 79604511 A C snp 495.77 0/1 99 100 73 27 0.27 intronic rs61252917 TSPAN10 AU NM_001290212 exon1 c.8+79A>C 0.0846645 0.2202 Uncertain 17_79609272_C->T 17 79609272 79609272 C T snp 117.77 0/1 99 15 8 7 0.47 intronic rs60389196 TSPAN10 AU NM_001290212 exon2 c.4908-60C>T 0.0846645 0.2163 Uncertain 17_79609410_G->T 17 79609410 79609410 G T snp 944.77 0/1 99 72 29 43 0.6 exonic rs7406219 TSPAN10 AU unknown 0.584465 0.7798 0.420591 0.4684 0.7820 Uncertain 17_79609550_C->T 17 79609550 79609550 C T snp 1379.77 1/1 99 50 0 50 1.0 intronic rs7406636 TSPAN10 AU NM_001290212 exon2 c.5050+76C>T 0.670128 0.996 0.468025 Uncertain 17_79609654_G->A 17 79609654 79609654 G A snp 56.74 1/1 6 3 0 3 1.0 intronic rs9912071 TSPAN10 AU NM_001290212 exon2 c.5050+180G>A 0.773962 0.997 Uncertain 17_79611924_G->A 17 79611924 79611924 G A snp 79.28 1/1 9 3 0 3 1.0 intronic rs7406705 TSPAN10 AU NM_001290212 exon3 c.7593-93G>A 0.701877 0.996 Uncertain 17_79612161_C->T 17 79612161 79612161 C T snp 2750.77 0/1 99 244 122 122 0.5 exonic rs6565616 TSPAN10 AU unknown 0.577276 0.7798 0.414403 0.4710 0.7818 Uncertain 17_79612333_G->A 17 79612333 79612333 G A snp 1508.77 0/1 99 165 94 71 0.43 exonic rs6565617 TSPAN10 AU unknown 0.585463 0.7808 0.418547 0.4662 0.7832 0.53 T 0.0 P -0.942 T 0.003 T 0.002 T Uncertain 17_79612382_T->C 17 79612382 79612382 T C snp 1308.77 0/1 99 125 71 54 0.43 exonic rs7210026 TSPAN10 AU unknown 0.585064 0.7798 0.414263 0.4688 0.7814 0.06 T 0.004 P -1.191 T 0.757 T 0.429 P Uncertain 17_79612397_A->G 17 79612397 79612397 A G snp 3789.77 1/1 99 125 0 125 1.0 exonic rs6420484 TSPAN10 AU unknown 0.844649 0.997 0.731004 0.7303 0.9973 1 T 0.286 P -0.927 T 0.0 T 0.0 T Uncertain 17_79612413_T->C 17 79612413 79612413 T C snp 3862.77 1/1 99 129 0 129 1.0 exonic rs7210043 TSPAN10 AU unknown 0.669928 0.996 0.456644 0.5229 0.9962 Uncertain 17_79612443_T->C 17 79612443 79612443 T C snp 4320.77 1/1 99 146 0 146 1.0 exonic rs7210193 TSPAN10 AU unknown 0.669728 0.996 0.455856 0.5276 0.9958 Uncertain 17_79612633_T->C 17 79612633 79612633 T C snp 2013.77 0/1 99 171 81 90 0.53 exonic rs34379910 TSPAN10 AU unknown 0.0848642 0.2163 0.037805 0.0537 0.2202 0.03 T 0.071 P -1.120 T 1.0 D 1.0 D Uncertain 17_79614286_C->T 17 79614286 79614286 C T snp 109.78 0/1 25 5 1 4 0.8 intronic rs73371237 TSPAN10 AU NM_001290212 exon4 c.10512-650C>T 0.0842652 0.2173 Uncertain 17_79614481_A->G 17 79614481 79614481 A G snp 4455.77 1/1 99 168 1 167 0.99 intronic rs9906358 TSPAN10 AU NM_001290212 exon4 c.10512-455A>G 0.665535 0.996 0.5598 0.9855 0.0 P Uncertain 17_79614933_TAAC->- 17 79614933 79614936 TAAC - indel 11010.7 1/1 99 168 0 168 1.0 splicing rs10536197 TSPAN10 AU NM_001290212 exon4 c.10512-3_10512+0delTAAC 0.844249 0.997 0.709242 0.7385 0.9972 ID=COSM1480170;OCCURENCE=1(breast) Pathogenic 17_79615225_G->T 17 79615225 79615225 G T snp 658.77 1/1 51 19 0 19 1.0 exonic rs7406494 TSPAN10 AU unknown 0.983826 1 0.9955 1 0.18 T 0.0 P -0.897 T Uncertain 17_79618059_C->T 17 79618059 79618059 C T snp 403.77 0/1 99 52 33 19 0.37 UTR3 rs8477 PDE6G AR 0.585064 0.7778 0.434184 0.4747 0.7808 Uncertain 17_79618252_G->A 17 79618252 79618252 G A snp 481.77 0/1 99 33 15 18 0.55 intronic rs7217415 PDE6G AR NM_002602 exon1 c.77+72G>A 0.583067 0.7778 Uncertain 17_79618834_G->C 17 79618834 79618834 G C snp 2762.77 0/1 99 198 88 110 0.56 intronic rs12603868 PDE6G AR NM_002602 exon2 c.612+119G>C 0.570088 0.7788 Uncertain 17_79623666_G->C 17 79623666 79623666 G C snp 825.77 0/1 99 81 48 33 0.41 upstream rs66656434 PDE6G AR 0.090655 0.2232 Uncertain 17_79623697_A->G 17 79623697 79623697 A G snp 684.77 0/1 99 64 38 26 0.41 upstream rs66517022 PDE6G AR 0.090655 0.2232 Uncertain 17_79632363_C->T 17 79632363 79632363 C T snp 1132.77 0/1 99 101 55 46 0.46 exonic rs1128812 OXLD1 AU synonymous SNV NM_001039842 exon2 c.G312A p.A104A 0.126198 0.2183 0.081655 0.0710 0.2161 Uncertain 17_79637349_T->C 17 79637349 79637349 T C snp 3739.77 1/1 99 150 1 149 0.99 exonic rs10438817 CCDC137 AU synonymous SNV NM_199287 exon3 c.T363C p.S121S 0.98722 1 0.969737 0.9732 1 Uncertain 17_79637367_C->G 17 79637367 79637367 C G snp 1756.77 0/1 99 138 57 81 0.59 exonic rs7226091 CCDC137 AU nonsynonymous SNV NM_199287 exon3 c.C381G p.H127Q 0.239217 0.2252 0.253391 0.2046 0.2188 0.56 T 0.0 P -0.925 T 0.0 T 0.0 T Pathogenic 17_79637474_C->A 17 79637474 79637474 C A snp 51.77 0/1 80 50 45 5 0.1 exonic CCDC137 AU nonsynonymous SNV NM_199287 exon3 c.C488A p.A163E 0.74 T 0.996 N -0.612 T 0.358 T 0.167 T Pathogenic 17_79638635_G->A 17 79638635 79638635 G A snp 68.77 0/1 97 11 8 3 0.27 intronic rs58358515 CCDC137 AU NM_199287 exon4 c.4977-138G>A 0.117412 0.2232 Uncertain 17_79638637_G->A 17 79638637 79638637 G A snp 71.77 0/1 99 11 8 3 0.27 intronic rs60041560 CCDC137 AU NM_199287 exon4 c.4977-136G>A 0.131589 0.2232 Uncertain 17_79639045_C->G 17 79639045 79639045 C G snp 1190.77 0/1 99 80 32 48 0.6 intronic rs12940151 CCDC137 AU NM_199287 exon5 c.5309-60C>G 0.131589 0.2232 0.074682 Uncertain 17_79639198_C->T 17 79639198 79639198 C T snp 1031.77 0/1 99 104 62 42 0.4 intronic rs7502870 CCDC137 AU NM_199287 exon5 c.5389+13C>T 0.239217 0.2252 0.253156 0.2077 0.2216 Uncertain 17_79639310_G->A 17 79639310 79639310 G A snp 218.77 0/1 99 29 20 9 0.31 intronic rs12938873 CCDC137 AU NM_199287 exon5 c.5389+125G>A 0.131589 0.2232 Uncertain 17_79639550_G->A 17 79639550 79639550 G A snp 1177.77 0/1 99 121 67 54 0.45 exonic rs11546630 CCDC137 AU nonsynonymous SNV NM_199287 exon6 c.G686A p.R229Q 0.131589 0.2232 0.078060 0.1129 0.3585 0.51 T 0.0 P -1.038 T 0.759 T 0.174 P Pathogenic 17_79639708_C->T 17 79639708 79639708 C T snp 596.77 0/1 99 47 22 25 0.53 exonic rs11546631 CCDC137 AU nonsynonymous SNV NM_199287 exon6 c.C844T p.R282W 0.131589 0.2232 0.075684 0.1048 0.2885 0.06 T 0.0 P -0.903 T 0.001 T 0.001 T Pathogenic 17_79649304_A->G 17 79649304 79649304 A G snp 448.77 0/1 99 46 28 18 0.39 intronic rs3205137 ARL16 AU NM_001040025 exon2 c.442+125A>G 0.250599 0.2302 Uncertain 17_79650181_A->G 17 79650181 79650181 A G snp 728.77 0/1 99 52 26 26 0.5 intronic rs34815730 ARL16 AU NM_001040025 exon3 c.1419+25A>G 0.25 0.2292 0.265202 0.2199 0.2231 Uncertain 17_79650675_C->G 17 79650675 79650675 C G snp 1907.77 0/1 99 164 83 81 0.49 intronic rs8080624 ARL16 AU NM_001040025 exon5 c.1985-47C>G 0.248203 0.2292 0.256144 0.2626 0.2913 Uncertain 17_79650828_T->G 17 79650828 79650828 T G snp 3711.77 0/1 99 250 114 136 0.54 exonic rs8066889 ARL16 AU nonsynonymous SNV NM_001040025 exon1 c.A28C p.S10R 0.248203 0.2292 0.257550 0.2175 0.2282 0.01 T 0.000 P -1.011 T 0.0 T 0.0 T Pathogenic 17_79650992_T->A 17 79650992 79650992 T A snp 1640.77 0/1 99 121 64 57 0.47 UTR5 rs77511372 HGS AU 0.0175719 0.0734 Uncertain 17_79652487_C->T 17 79652487 79652487 C T snp 972.77 0/1 99 68 31 37 0.54 intronic rs34730558 HGS AU NM_004712 exon2 c.1538-147C>T 0.0846645 0.2272 Uncertain 17_79653206_C->A 17 79653206 79653206 C A snp 268.77 0/1 99 43 30 13 0.3 intronic rs66508304 HGS AU NM_004712 exon3 c.2245-135C>A 0.0988419 0.2272 Uncertain 17_79653259_C->T 17 79653259 79653259 C T snp 793.77 0/1 99 84 54 30 0.36 intronic rs67703038 HGS AU NM_004712 exon3 c.2245-82C>T 0.0836661 0.2272 Uncertain 17_79653311_T->C 17 79653311 79653311 T C snp 1214.77 0/1 99 135 78 57 0.42 intronic rs72858892 HGS AU NM_004712 exon3 c.2245-30T>C 0.111422 0.2282 0.079154 0.0940 0.2427 Uncertain 17_79653321_T->C 17 79653321 79653321 T C snp 1359.77 0/1 99 144 81 63 0.44 intronic rs72858893 HGS AU NM_004712 exon3 c.2245-20T>C 0.0990415 0.2272 0.058547 0.0736 0.2365 Uncertain 17_79653859_T->A 17 79653859 79653859 T A snp 55.77 0/1 84 7 4 3 0.43 intronic rs112851192 HGS AU NM_004712 exon4 c.2936-173T>A 0.102436 0.2292 Uncertain 17_79657107_T->C 17 79657107 79657107 T C snp 890.77 0/1 99 67 32 35 0.52 intronic rs12952375 HGS AU NM_004712 exon6 c.6115-104T>C 0.0988419 0.2252 Uncertain 17_79657840_A->G 17 79657840 79657840 A G snp 787.77 0/1 99 89 54 35 0.39 intronic rs34203932 HGS AU NM_004712 exon7 c.6676+68A>G 0.0992412 0.2262 0.050175 Uncertain 17_79658412_T->G 17 79658412 79658412 T G snp 1916.77 0/1 99 146 75 71 0.49 intronic rs34784238 HGS AU NM_004712 exon8 c.7380-64T>G 0.114018 0.2262 Uncertain 17_79662067_A->G 17 79662067 79662067 A G snp 3228.29 0/1 99 210 95 115 0.55 exonic rs34384005 HGS AU synonymous SNV NM_004712 exon13 c.A1089G p.E363E 0.113618 0.2232 0.073285 0.0746 0.2230 Uncertain 17_79662749_C->T 17 79662749 79662749 C T snp 468.77 0/1 99 39 21 18 0.46 intronic rs35646762 HGS AU NM_004712 exon15 c.11719-66C>T 0.0900559 0.2232 Uncertain 17_79663880_T->C 17 79663880 79663880 T C snp 1774.77 0/1 99 157 85 72 0.46 exonic rs12951171 HGS AU synonymous SNV NM_004712 exon18 c.T1734C p.G578G 0.104034 0.2232 0.064846 0.0725 0.2218 Uncertain 17_79663931_T->C 17 79663931 79663931 T C snp 1647.77 0/1 99 133 69 64 0.48 exonic rs8070488 HGS AU synonymous SNV NM_004712 exon18 c.T1785C p.P595P 0.253794 0.2252 0.266513 0.2155 0.2230 Uncertain 17_79668135_G->T 17 79668135 79668135 G T snp 2653.77 0/1 99 208 91 117 0.56 exonic rs56058441 HGS AU nonsynonymous SNV NM_004712 exon21 c.G2197T p.A733S 0.103235 0.2232 0.065508 0.0718 0.2216 0.89 T 0.0 P -1.097 T 0.0 T 0.001 T Pathogenic 17_79668226_A->G 17 79668226 79668226 A G snp 789.77 0/1 99 52 27 25 0.48 intronic rs55837949 HGS AU NM_004712 exon21 c.17065+65A>G 0.26258 0.2272 0.2660 0.2700 Uncertain 17_79668552_C->T 17 79668552 79668552 C T snp 993.77 0/1 99 70 35 35 0.5 exonic rs34897798 HGS AU synonymous SNV NM_004712 exon22 c.C2238T p.G746G 0.0896565 0.2222 0.047146 0.1229 0.3721 Uncertain 17_79668664_C->T 17 79668664 79668664 C T snp 2382.77 0/1 99 206 104 102 0.5 UTR3 rs1128805 HGS AU 0.104034 0.2232 0.062324 0.1033 0.3301 Uncertain 17_79670386_A->G 17 79670386 79670386 A G snp 480.77 0/1 99 41 22 19 0.46 upstream rs1132803 MRPL12 AU 0.25599 0.2262 Uncertain 17_79670642_G->A 17 79670642 79670642 G A snp 340.77 0/1 99 26 11 15 0.58 intronic rs34724580 MRPL12 AU NM_002949 exon1 c.74+37G>A 0.104233 0.2242 0.047635 0.1281 0.2857 Uncertain 17_79671714_T->C 17 79671714 79671714 T C snp 1209.77 0/1 99 114 59 55 0.48 exonic rs11546280 MRPL12 AU nonsynonymous SNV NM_002949 exon3 c.T313C p.S105P 0.101438 0.2242 0.064278 0.0716 0.2226 0.89 T 1.000 P -1.027 T 0.0 T 0.0 T Pathogenic 17_79674094_G->A 17 79674094 79674094 G A snp 2168.77 0/1 99 204 109 95 0.47 intronic rs139488734 MRPL12 AU NM_002949 exon4 c.3539+24G>A 0.013778 0.0169 0.001000 0.0125 0.0182 Uncertain 17_79767056_CTGT->- 17 79767056 79767059 CTGT - indel 357.73 0/1 99 23 12 11 0.48 intronic rs567365898 GCGR AD NM_000160 exon2 c.60+102_60+105delCTGT 0.0081869 0.002 Uncertain 17_79767618_T->C 17 79767618 79767618 T C snp 1108.77 0/1 99 96 52 44 0.46 intronic rs13306386 GCGR AD NM_000160 exon3 c.763-39T>C 0.0654952 0.2093 0.003723 0.0282 0.1812 Uncertain 17_79784102_CA->- 17 79784102 79784103 CA - indel 1209.73 0/1 99 87 50 37 0.43 intronic FAM195B AU NM_001288798 exon6 c.3133-153_3133-152delCA Uncertain 17_79791597_A->G 17 79791597 79791597 A G snp 99.77 0/1 99 23 16 7 0.3 UTR3 rs35031019 PPP1R27 AU 0.260184 0.2778 0.222288 0.2026 0.2927 Uncertain 17_79801977_C->T 17 79801977 79801977 C T snp 811.77 0/1 99 79 43 36 0.46 intronic rs138348620 P4HB AD NM_000918 exon1 c.81+9C>T 0.0974441 0.1915 0.045979 0.0454 0.1842 Uncertain 17_79803101_A->G 17 79803101 79803101 A G snp 1896.77 0/1 99 177 96 81 0.46 exonic rs1130674 P4HB AD synonymous SNV NM_000918 exon10 c.T1365C p.I455I 0.250998 0.2857 0.239117 0.2225 0.2979 1.000 P Uncertain 17_79804721_A->G 17 79804721 79804721 A G snp 136.03 1/1 12 4 0 4 1.0 intronic rs2070872 P4HB AD NM_000918 exon6 c.2935-101A>G 0.265775 0.2867 Uncertain 17_79805003_A->G 17 79805003 79805003 A G snp 2206.77 0/1 99 154 67 87 0.56 intronic rs111301737 P4HB AD NM_000918 exon6 c.3061+55A>G 0.238419 0.2877 Uncertain 17_79805369_A->G 17 79805369 79805369 A G snp 237.77 0/1 99 23 15 8 0.35 intronic rs138516145 P4HB AD NM_000918 exon7 c.3336+146A>G 0.0984425 0.1964 Uncertain 17_79816926_C->T 17 79816926 79816926 C T snp 199.77 0/1 99 12 4 8 0.67 intronic rs1533756 P4HB AD NM_000918 exon10 c.15169-130C>T 0.456869 0.5139 Uncertain 17_79818360_T->G 17 79818360 79818360 T G snp 902.77 0/1 99 81 40 41 0.51 UTR5 rs1130664 P4HB AD 0.27496 0.2937 0.197651 0.3625 0.4745 Uncertain 17_79818420_G->C 17 79818420 79818420 G C snp 294.77 0/1 99 24 13 11 0.46 UTR5 rs577326892 P4HB AD 0.000798722 0.004 Uncertain 17_79827863_C->G 17 79827863 79827863 C G snp 167.77 0/1 99 12 6 6 0.5 intronic rs113241788 ARHGDIA AR NM_001185078 exon5 c.1082+30C>G 0.0742812 0.1905 Uncertain 17_79862882_C->G 17 79862882 79862882 C G snp 6223.77 1/1 99 219 0 219 1.0 intronic rs146889521 PCYT2 AU NM_001256435 exon2 c.233-59C>G 0.986422 1 Uncertain 17_79872129_A->G 17 79872129 79872129 A G snp 7494.77 1/1 99 250 0 250 1.0 intronic rs1879568 SIRT7 AU NM_016538 exon4 c.1878-40A>G 1 1 0.999616 0.9999 1 Uncertain 17_79872241_A->G 17 79872241 79872241 A G snp 7168.77 1/1 99 250 0 250 1.0 exonic rs1879569 SIRT7 AU synonymous SNV NM_016538 exon7 c.T745C p.L249L 0.986222 1 0.981239 0.9950 1 Uncertain 17_79891147_T->C 17 79891147 79891147 T C snp 4279.77 1/1 99 158 0 158 1.0 exonic rs61747618 PYCR1 AR,AU synonymous SNV NM_006907 exon7 c.A903G p.S301S 0.986022 1 0.981467 0.9951 1 Uncertain 17_79893962_G->A 17 79893962 79893962 G A snp 2244.77 0/1 99 197 98 99 0.5 intronic rs34419046 PYCR1 AR,AU NM_001282281 exon6 c.2909-36G>A 0.741014 0.7302 0.803091 0.8776 0.7130 Uncertain 17_79898550_T->C 17 79898550 79898550 T C snp 93.28 1/1 9 3 0 3 1.0 UTR3 rs4796857 MYADML2 AU 0.989217 1 Uncertain 17_79898964_G->A 17 79898964 79898964 G A snp 2562.77 0/1 99 233 121 112 0.48 exonic rs373462435 MYADML2 AU synonymous SNV NM_001145113 exon3 c.C654T p.G218G 0.000399361 0.002 0.0001 0.0039 Uncertain 17_79914392_C->T 17 79914392 79914392 C T snp 592.77 0/1 99 40 20 20 0.5 intronic rs368596733 NOTUM AU NM_178493 exon4 c.3689-133C>T 0.000599042 0.003 Uncertain 17_79937011_G->A 17 79937011 79937011 G A snp 1337.77 0/1 99 118 58 60 0.51 intronic rs148233930 ASPSCR1 AU NM_024083 exon2 c.1537-48G>A 0.00199681 0.0099 0.0004 0.0051 Uncertain 17_79977813_C->G 17 79977813 79977813 C G snp 1103.77 0/1 99 80 33 47 0.59 intronic rs4969471 STRA13 AU NM_144998 exon3 c.705+28C>G 0.70028 0.4375 0.775469 0.7137 0.4625 Uncertain 17_79990973_G->- 17 79990973 79990973 G - indel 1014.73 1/1 78 29 0 29 1.0 intronic rs10708637 RAC3 AU NM_005052 exon4 c.1248+88delG 0.9998 1 Uncertain 17_79993919_C->T 17 79993919 79993919 C T snp 2435.77 0/1 99 180 80 100 0.56 exonic rs61746217 DCXR AR nonsynonymous SNV NM_016286 exon8 c.G652A p.A218T 0.0443291 0.1379 0.003460 0.0308 0.1403 0.000 P -1.123 T 0.378 T 0.15 T Pathogenic 17_79995616_A->G 17 79995616 79995616 A G snp 378.77 0/1 99 52 33 19 0.37 upstream rs57552134 DCXR AR 0.311102 0.2272 Uncertain 17_80006504_T->C 17 80006504 80006504 T C snp 40.77 0/1 69 5 3 2 0.4 UTR3 rs1128009 RFNG AU 0.574281 0.3085 Uncertain 17_80006812_C->T 17 80006812 80006812 C T snp 155.77 0/1 99 14 8 6 0.43 intronic rs8069068 RFNG AU NM_002917 exon2 c.305-94C>T 0.292931 0.1875 Uncertain 17_80006957_A->C 17 80006957 80006957 A C snp 711.77 0/1 99 53 24 29 0.55 exonic rs12948507 RFNG AU nonsynonymous SNV NM_002917 exon7 c.T864G p.H288Q 0.530551 0.3085 0.657004 0.6313 0.3162 0.3 T 0.000 P -0.986 T 0.021 T 0.033 T Pathogenic 17_80007018_T->C 17 80007018 80007018 T C snp 1244.77 0/1 99 108 53 55 0.51 intronic rs12939972 RFNG AU NM_002917 exon2 c.391+26T>C 0.589457 0.3065 0.718702 0.6527 0.3522 Uncertain 17_80007055_T->C 17 80007055 80007055 T C snp 1919.77 0/1 99 158 77 81 0.51 intronic rs62078730 RFNG AU NM_002917 exon2 c.391+63T>C 0.579073 0.3085 0.6551 0.3743 Uncertain 17_80007080_T->C 17 80007080 80007080 T C snp 2345.77 0/1 99 190 97 93 0.49 intronic rs28404464 RFNG AU NM_002917 exon2 c.391+88T>C 0.578474 0.3065 0.6363 0.3557 Uncertain 17_80007088_C->G 17 80007088 80007088 C G snp 2315.77 0/1 99 199 104 95 0.48 intronic rs28696285 RFNG AU NM_002917 exon2 c.391+96C>G 0.578275 0.3056 0.6274 0.3548 Uncertain 17_80007307_A->G 17 80007307 80007307 A G snp 3853.77 0/1 99 250 123 127 0.51 intronic rs11653935 RFNG AU NM_002917 exon3 c.951-245A>G 0.360623 0.1895 0.3914 0.2027 Uncertain 17_80007887_A->G 17 80007887 80007887 A G snp 3163.77 0/1 99 249 118 131 0.53 splicing rs9915228 RFNG AU NM_002917 exon4 c.1281+5A>G 0.541933 0.3115 0.663919 0.6333 0.3718 Pathogenic 17_80007897_G->T 17 80007897 80007897 G T snp 3330.77 0/1 99 250 116 134 0.54 intronic rs9915742 RFNG AU NM_002917 exon4 c.1281+15G>T 0.552117 0.3095 0.676298 0.6362 0.3757 Uncertain 17_80008018_A->G 17 80008018 80008018 A G snp 1828.77 0/1 99 151 83 68 0.45 intronic rs9893491 RFNG AU NM_002917 exon4 c.1281+136A>G 0.541334 0.3095 Uncertain 17_80008392_G->T 17 80008392 80008392 G T snp 2323.77 0/1 99 210 115 95 0.45 exonic rs9916764 RFNG AU synonymous SNV NM_002917 exon4 c.C459A p.A153A 0.541334 0.3085 0.654491 0.6036 0.3156 Uncertain 17_80008676_A->C 17 80008676 80008676 A C snp 5910.77 1/1 99 208 0 208 1.0 intronic rs4464142 RFNG AU NM_002917 exon6 c.2039+36A>C 0.985623 0.999 0.984149 0.9814 0.9994 Uncertain 17_80009156_T->G 17 80009156 80009156 T G snp 1618.77 0/1 99 144 72 72 0.5 intronic rs28552909 RFNG AU NM_002917 exon7 c.2568-13T>G 0.444888 0.2242 0.623221 0.5606 0.2801 Uncertain 17_80009668_C->G 17 80009668 80009668 C G snp 591.77 0/1 99 44 20 24 0.55 upstream rs117999554 GPS1 AU 0.540935 0.3065 0 . Uncertain 17_80013235_A->G 17 80013235 80013235 A G snp 1689.77 1/1 99 57 0 57 1.0 intronic rs4969464 GPS1 AU NM_004127 exon6 c.3291+137A>G 0.973243 0.998 0.9531 0.9964 Uncertain 17_80014861_T->G 17 80014861 80014861 T G snp 2616.77 0/1 99 197 90 107 0.54 intronic rs4969484 GPS1 AU NM_004127 exon12 c.5043+11T>G 0.58726 0.3095 0.702553 0.6176 0.3172 Uncertain 17_80016452_C->A 17 80016452 80016452 C A snp 48.74 1/1 6 2 0 2 1.0 intronic rs4280314 DUS1L AU NM_022156 exon2 c.302+160C>A 0.962061 0.998 0.9503 0.9986 Uncertain 17_80018714_C->T 17 80018714 80018714 C T snp 1211.77 0/1 99 125 69 56 0.45 intronic rs58204115 DUS1L AU NM_022156 exon6 c.2750-26C>T 0.327476 0.1806 0.472055 0.4679 0.1806 Uncertain 17_80021897_G->A 17 80021897 80021897 G A snp 855.77 0/1 99 47 20 27 0.57 intronic rs117831598 DUS1L AU NM_022156 exon12 c.6011-104G>A 0.00579073 0.0248 Uncertain 17_80022656_-->G 17 80022656 80022656 - G indel 175.73 0/1 99 21 14 7 0.33 intronic rs34249409 DUS1L AU NM_022156 exon13 c.6708-42insG 0.722551 0.6373 0.3164 Uncertain 17_80023023_C->T 17 80023023 80023023 C T snp 1055.77 0/1 99 104 54 50 0.48 intronic rs58112725 DUS1L AU NM_022156 exon13 c.6955+78C>T 0.185503 0.0476 Uncertain 17_80023050_T->C 17 80023050 80023050 T C snp 829.77 0/1 99 68 35 33 0.49 intronic rs28374526 DUS1L AU NM_022156 exon13 c.6955+105T>C 0.0896565 0.0476 Uncertain 17_80037191_A->G 17 80037191 80037191 A G snp 2069.77 0/1 99 184 103 81 0.44 intronic rs4075080 FASN AU NM_004104 exon1 c.138+35A>G 0.219249 0.1111 0.214429 0.2253 0.1080 Uncertain 17_80038952_T->G 17 80038952 80038952 T G snp 121.77 0/1 99 12 6 6 0.5 intronic rs4246444 FASN AU NM_004104 exon6 c.2021-87T>G 0.663738 0.4246 Uncertain 17_80039028_A->G 17 80039028 80039028 A G snp 826.77 0/1 99 61 26 35 0.57 intronic rs4246445 FASN AU NM_004104 exon6 c.2021-11A>G 0.664337 0.4236 0.754530 0.6901 0.5108 Uncertain 17_80040607_T->C 17 80040607 80040607 T C snp 172.77 0/1 99 12 6 6 0.5 intronic rs4969465 FASN AU NM_004104 exon10 c.3536+53T>C 0.622804 0.4236 Uncertain 17_80040781_C->T 17 80040781 80040781 C T snp 1958.77 0/1 99 190 104 86 0.45 intronic rs140072817 FASN AU NM_004104 exon11 c.3771-8C>T 0.000599042 0.003 0.0004 0.0050 Uncertain 17_80041362_C->T 17 80041362 80041362 C T snp 3404.77 0/1 99 250 118 132 0.53 intronic rs45591642 FASN AU NM_004104 exon13 c.4374-30C>T 0.0161741 0.0437 0.000924 0.0119 0.0415 Uncertain 17_80042631_G->A 17 80042631 80042631 G A snp 1548.77 0/1 99 121 58 63 0.52 intronic rs191483572 FASN AU NM_004104 exon17 c.5574+39G>A 0.000798722 0.004 0.0005 0.0114 Uncertain 17_80045086_G->C 17 80045086 80045086 G C snp 1318.77 0/1 99 105 44 61 0.58 exonic rs4485435 FASN AU synonymous SNV NM_004104 exon21 c.C3267G p.A1089A 0.223043 0.1121 0.2016 0.1306 Uncertain 17_80046215_G->C 17 80046215 80046215 G C snp 2407.77 0/1 99 206 104 102 0.5 intronic rs192897796 FASN AU NM_004104 exon27 c.9165+32G>C 0.00658946 0.0317 0.0021 0.0284 Uncertain 17_80047647_G->A 17 80047647 80047647 G A snp 1606.77 0/1 99 115 42 73 0.63 intronic rs12937862 FASN AU NM_004104 exon32 c.10584+45G>A 0.0335463 0.1141 0.000747 0.0115 0.1299 Uncertain 17_80049486_C->T 17 80049486 80049486 C T snp 2664.77 0/1 99 231 111 120 0.52 exonic rs373141943 FASN AU synonymous SNV NM_004104 exon9 c.G1104A p.A368A 0.000199681 0.001 0.0002 0.0003 Uncertain 17_80050555_GG->- 17 80050555 80050556 GG - indel 1423.73 1/1 62 58 2 56 0.97 intronic rs10591316 FASN AU NM_004104 exon37 c.13554-17_13554-16delGG 0.8259 0.8387 Uncertain 17_80091941_G->A 17 80091941 80091941 G A snp 944.77 1/1 69 32 0 32 1.0 intronic rs4789754 CCDC57 AU NM_198082 exon3 c.26916+5468G>A 0.585264 0.8631 0.5405 0.9106 Uncertain 17_80092131_T->C 17 80092131 80092131 T C snp 1896.77 1/1 99 70 0 70 1.0 intronic rs4789753 CCDC57 AU NM_198082 exon3 c.26916+5658T>C 0.82508 0.9435 Uncertain 17_80092171_A->G 17 80092171 80092171 A G snp 1023.77 1/1 72 42 0 42 1.0 intronic rs4789752 CCDC57 AU NM_198082 exon3 c.26916+5698A>G 0.969249 1 Uncertain 17_80103737_T->C 17 80103737 80103737 T C snp 4172.77 1/1 99 162 0 162 1.0 intronic rs6502066 CCDC57 AU NM_198082 exon4 c.56066-11886T>C 0.584864 0.8631 0.5582 0.9104 Uncertain 17_80104593_G->A 17 80104593 80104593 G A snp 2312.77 1/1 99 88 0 88 1.0 intronic rs12600852 CCDC57 AU NM_198082 exon4 c.56066-11030G>A 0.585463 0.8631 Uncertain 17_80104631_A->G 17 80104631 80104631 A G snp 2077.77 1/1 99 72 0 72 1.0 intronic rs12603050 CCDC57 AU NM_198082 exon4 c.56066-10992A>G 0.585264 0.8631 Uncertain 17_80104762_C->T 17 80104762 80104762 C T snp 683.77 1/1 51 23 0 23 1.0 intronic rs12602320 CCDC57 AU NM_198082 exon4 c.56066-10861C>T 0.541733 0.756 Uncertain 17_80104764_T->C 17 80104764 80104764 T C snp 702.77 1/1 51 23 0 23 1.0 intronic rs12603584 CCDC57 AU NM_198082 exon4 c.56066-10859T>C 0.541733 0.756 Uncertain 17_80109326_T->C 17 80109326 80109326 T C snp 208.84 1/1 18 6 0 6 1.0 intronic rs76421195 CCDC57 AU NM_198082 exon4 c.56066-6297T>C 0.586062 0.8631 Uncertain 17_80121275_A->G 17 80121275 80121275 A G snp 6681.77 1/1 99 243 0 243 1.0 intronic rs34448080 CCDC57 AU NM_198082 exon5 c.61676+42A>G 0.585264 0.8631 0.426672 0.5138 0.8889 Uncertain 17_80121358_T->C 17 80121358 80121358 T C snp 2422.77 1/1 99 77 0 77 1.0 intronic rs34867501 CCDC57 AU NM_198082 exon5 c.61676+125T>C 0.584665 0.8631 Uncertain 17_80129485_T->C 17 80129485 80129485 T C snp 476.77 1/1 36 14 0 14 1.0 intronic rs12945993 CCDC57 AU NM_198082 exon6 c.70019-91T>C 0.591853 0.8631 Uncertain 17_80129888_TCTG->- 17 80129888 80129891 TCTG - indel 1058.73 0/1 99 42 18 24 0.57 intronic rs144477175 CCDC57 AU NM_198082 exon6 c.70172+159_70172+162delTCTG 0.00139776 0.0069 Uncertain 17_80136418_C->T 17 80136418 80136418 C T snp 6742.77 1/1 99 248 0 248 1.0 exonic rs7209474 CCDC57 AU nonsynonymous SNV NM_198082 exon10 c.G1438A p.V480M 0.572684 0.8631 0.414478 0.5103 0.8887 0.12 T 0.000 P -0.989 T 0.757 T 0.173 P Pathogenic 17_80137173_C->T 17 80137173 80137173 C T snp 1233.77 1/1 90 39 0 39 1.0 intronic rs3935816 CCDC57 AU NM_198082 exon9 c.77508+108C>T 0.582867 0.8631 Uncertain 17_80141905_G->A 17 80141905 80141905 G A snp 263.77 0/1 99 47 34 13 0.28 intronic rs59638220 CCDC57 AU NM_198082 exon10 c.82251+97G>A 0.684505 0.7808 Uncertain 17_80141907_G->A 17 80141907 80141907 G A snp 771.77 0/1 95 42 11 31 0.74 intronic rs12953056 CCDC57 AU NM_198082 exon10 c.82251+99G>A 0.684505 0.7808 Uncertain 17_80145983_T->A 17 80145983 80145983 T A snp 93.28 1/1 9 3 0 3 1.0 intronic rs4789730 CCDC57 AU NM_198082 exon11 c.86537-111T>A 0.572484 0.8631 Uncertain 17_80146089_G->A 17 80146089 80146089 G A snp 895.77 1/1 66 31 0 31 1.0 splicing rs4789729 CCDC57 AU NM_198082 exon11 c.86537-5G>A 0.81869 0.9276 0.755657 0.7761 0.9458 Pathogenic 17_80151501_A->G 17 80151501 80151501 A G snp 378.77 1/1 30 12 0 12 1.0 intronic rs56193110 CCDC57 AU NM_198082 exon12 c.92074-130A>G 0.58107 0.8631 Uncertain 17_80151805_T->C 17 80151805 80151805 T C snp 3552.77 1/1 99 122 0 122 1.0 intronic rs4789670 CCDC57 AU NM_198082 exon13 c.92300-52T>C 0.599042 0.8631 Uncertain 17_80151881_G->A 17 80151881 80151881 G A snp 2916.77 1/1 99 100 0 100 1.0 exonic rs4789722 CCDC57 AU synonymous SNV NM_198082 exon5 c.C753T p.D251D 0.598642 0.8631 0.432284 0.5186 0.8883 Uncertain 17_80152919_G->A 17 80152919 80152919 G A snp 50.74 1/1 6 3 0 3 1.0 intronic rs4482345 CCDC57 AU NM_198082 exon14 c.93581-219G>A 0.598642 0.8631 Uncertain 17_80159566_T->C 17 80159566 80159566 T C snp 4655.77 1/1 99 154 0 154 1.0 exonic rs8072670 CCDC57 AU synonymous SNV NM_198082 exon2 c.A255G p.E85E 0.823482 0.9276 0.749570 0.7464 0.9366 Uncertain 17_80195582_T->C 17 80195582 80195582 T C snp 6714.77 1/1 99 241 0 241 1.0 exonic rs9303026 SLC16A3 AU synonymous SNV NM_001042422 exon4 c.T936C p.G312G 0.999201 1 0.999461 0.9987 0.9999 Uncertain 17_80198007_G->C 17 80198007 80198007 G C snp 2120.77 0/1 99 222 122 100 0.45 downstream rs9901910 SLC16A3 AU 0.886981 0.7183 Uncertain 17_80218800_G->A 17 80218800 80218800 G A snp 1399.77 1/1 99 38 0 38 1.0 intronic rs35693344 CSNK1D AD NM_001893 exon8 c.20905-4761G>A 0.561701 0.9603 0.4677 0.9375 Uncertain 17_80275253_T->C 17 80275253 80275253 T C snp 677.77 1/1 48 28 0 28 1.0 intronic rs3176829 CD7 AU NM_006137 exon4 c.2093-36T>C 0.886981 0.997 0.846809 0.8339 0.9960 Uncertain 17_80280865_G->A 17 80280865 80280865 G A snp 7293.77 1/1 99 244 1 243 1.0 exonic rs11077986 SECTM1 AU synonymous SNV NM_003004 exon4 c.C426T p.P142P 0.327276 0.5635 0.383036 0.4526 0.5765 Uncertain 17_80320561_G->A 17 80320561 80320561 G A snp 1396.77 0/1 99 119 64 55 0.46 UTR3 rs7502620 TEX19 AU 0.417931 0.3413 0.300295 0.3423 0.3299 Uncertain 17_80333346_C->G 17 80333346 80333346 C G snp 294.77 0/1 99 33 19 14 0.42 exonic rs568196624 UTS2R AU synonymous SNV NM_018949 exon1 c.C1146G p.P382P 0.000199681 0.001 0.0003 0.0040 Uncertain 17_80350331_G->A 17 80350331 80350331 G A snp 2012.77 1/1 99 74 0 74 1.0 exonic rs11903 OGFOD3 AU synonymous SNV NM_024648 exon9 c.C903T p.I301I 0.319888 0.3581 0.199169 0.2910 0.3539 Uncertain 17_80352138_T->C 17 80352138 80352138 T C snp 1115.77 1/1 43 37 2 35 0.95 intronic rs6502106 OGFOD3 AU NM_024648 exon1 c.137+1728T>C 0.555711 0.3631 Uncertain 17_80356019_C->G 17 80356019 80356019 C G snp 1085.77 1/1 81 30 0 30 1.0 intronic rs9905077 OGFOD3 AU NM_175902 exon3 c.3825-52C>G 0.552316 0.3681 Uncertain 17_80356315_A->G 17 80356315 80356315 A G snp 443.77 1/1 33 14 0 14 1.0 intronic rs6502107 OGFOD3 AU NM_175902 exon3 c.3949+120A>G 0.992812 1 Uncertain 17_80367353_G->A 17 80367353 80367353 G A snp 2233.77 1/1 99 79 0 79 1.0 intronic rs7211306 OGFOD3 AU NM_175902 exon7 c.15040+67G>A 0.504393 0.8889 0.309242 Uncertain 17_80369128_G->A 17 80369128 80369128 G A snp 303.78 1/1 24 8 0 8 1.0 intronic rs9916119 OGFOD3 AU NM_175902 exon8 c.17084-202G>A 0.495407 0.8929 Uncertain 17_80391684_A->G 17 80391684 80391684 A G snp 6908.77 1/1 99 249 0 249 1.0 exonic rs4789773 HEXDC AU nonsynonymous SNV NM_173620 exon5 c.A433G p.I145V 0.563299 0.9018 0.381670 0.4440 0.9125 0.19 T 0.006 P -0.962 T 0.106 T 0.137 T Pathogenic 17_80391881_G->A 17 80391881 80391881 G A snp 824.77 1/1 63 22 0 22 1.0 intronic rs4789774 HEXDC AU NM_173620 exon5 c.14023+183G>A 0.491414 0.9018 Uncertain 17_80394530_G->T 17 80394530 80394530 G T snp 4842.77 1/1 99 184 0 184 1.0 intronic rs4789777 HEXDC AU NM_173620 exon7 c.16867-12G>T 0.492812 0.9018 0.307830 0.4586 0.9133 Uncertain 17_80397484_A->G 17 80397484 80397484 A G snp 2087.77 1/1 99 77 0 77 1.0 intronic rs28561791 HEXDC AU NM_173620 exon9 c.19831-22A>G 0.598243 0.9048 0.418989 0.4634 0.9132 Uncertain 17_80399193_C->T 17 80399193 80399193 C T snp 453.77 1/1 42 17 0 17 1.0 intronic rs7501824 HEXDC AU NM_173620 exon10 c.21467+51C>T 0.491214 0.9028 0.289031 0.4105 0.9093 Uncertain 17_80401946_A->G 17 80401946 80401946 A G snp 2329.77 1/1 99 89 0 89 1.0 exonic rs2306758 C17orf62 AU synonymous SNV NM_001100408 exon6 c.T456C p.L152L 0.183307 0.3095 0.078195 0.1500 0.3296 0.06 T 0.0 P -1.022 T 0.201 T 0.123 T Likely benign 17_80402045_T->C 17 80402045 80402045 T C snp 1743.77 1/1 99 63 0 63 1.0 intronic rs67228117 C17orf62 AU NM_001193657 exon1 c.121+45T>C 0.245607 0.2986 0.150930 0.1910 0.3202 Uncertain 17_80402296_G->A 17 80402296 80402296 G A snp 3871.77 1/1 99 125 0 125 1.0 intronic rs7221125 C17orf62 AU NM_001193657 exon2 c.443-26G>A 0.45627 0.8522 0.303091 0.3654 0.8598 Uncertain 17_80403894_G->A 17 80403894 80403894 G A snp 2551.77 1/1 99 91 0 91 1.0 intronic rs2291394 C17orf62 AU NM_001193657 exon3 c.1957+58G>A 0.223842 0.25 Uncertain 17_80405269_G->A 17 80405269 80405269 G A snp 41.77 0/1 70 4 2 2 0.5 intronic C17orf62 AU NM_001193657 exon5 c.3576-186G>A Uncertain 17_80405436_T->G 17 80405436 80405436 T G snp 129.77 0/1 99 47 29 18 0.38 intronic rs768779674 C17orf62 AU NM_001193657 exon5 c.3576-19T>G 3.573e-05 0 Uncertain 17_80405552_T->C 17 80405552 80405552 T C snp 612.77 1/1 45 23 0 23 1.0 intronic rs3751913 C17orf62 AU NM_001193657 exon5 c.3618+55T>C 0.248003 0.25 0.165134 0.2083 0.2809 Uncertain 17_80426551_A->- 17 80426551 80426551 A - indel 2508.73 1/1 99 60 0 60 1.0 intronic rs3214988 NARF AU NM_031968 exon4 c.9960-88delA 0.584065 0.8938 Uncertain 17_80438165_-->CA 17 80438165 80438165 - CA indel 811.73 0/1 99 31 8 23 0.74 intronic rs3068087 NARF AU NM_031968 exon7 c.22278-792insCA 0.091254 0.1389 Uncertain 17_80439607_A->- 17 80439607 80439607 A - indel 184.73 1/1 32 12 0 12 1.0 intronic rs61126963 NARF AU NM_031968 exon7 c.22408+520delA 0.324681 0.2788 Uncertain 17_80439733_C->T 17 80439733 80439733 C T snp 4009.77 1/1 99 161 0 161 1.0 intronic rs9909476 NARF AU NM_031968 exon7 c.22408+646C>T 0.174521 0.2302 0.1785 0.2108 Uncertain 17_80439907_A->G 17 80439907 80439907 A G snp 133.03 1/1 12 4 0 4 1.0 intronic rs9898723 NARF AU NM_031968 exon7 c.22408+820A>G 0.195288 0.2302 Uncertain 17_80443296_-->A 17 80443296 80443296 - A indel 1117.73 1/1 66 50 3 47 0.94 intronic rs11453409 NARF AU NM_031968 exon11 c.26693-76insA 0.404353 0.6359 Uncertain 17_80443309_G->A 17 80443309 80443309 G A snp 2324.77 1/1 99 79 1 78 0.99 intronic rs9890316 NARF AU NM_031968 exon11 c.26693-63G>A 0.567093 0.9048 Uncertain 17_80517489_G->C 17 80517489 80517489 G C snp 363.77 0/1 99 20 8 12 0.6 intronic rs72861098 FOXK2 AU NM_004514 exon2 c.43465-3740G>C 0.177516 0.3105 Uncertain 17_80540585_A->G 17 80540585 80540585 A G snp 1147.77 0/1 99 83 34 49 0.59 intronic rs2306759 FOXK2 AU NM_004514 exon5 c.62852-31A>G 0.3123 0.3373 0.339122 0.4031 0.4008 Uncertain 17_80544120_G->C 17 80544120 80544120 G C snp 204.77 0/1 99 14 7 7 0.5 intronic rs12602563 FOXK2 AU NM_004514 exon7 c.66312+44G>C 0.358227 0.3829 0.2321 0.3464 Uncertain 17_80544132_G->- 17 80544132 80544132 G - indel 150.25 1/1 9 10 4 6 0.6 intronic rs376080437 FOXK2 AU NM_004514 exon7 c.66312+56delG 0.735224 0.7778 Uncertain 17_80544855_T->C 17 80544855 80544855 T C snp 761.77 0/1 99 55 20 35 0.64 intronic rs1387545 FOXK2 AU NM_004514 exon8 c.67174-83T>C 0.619609 0.4931 Uncertain 17_80545156_A->G 17 80545156 80545156 A G snp 1075.77 1/1 78 32 0 32 1.0 intronic rs6502124 FOXK2 AU NM_004514 exon8 c.67384+8A>G 0.961262 1 0.953447 0.9815 0.9994 Uncertain 17_80574082_T->G 17 80574082 80574082 T G snp 149.77 0/1 99 16 9 7 0.44 intronic rs753569 WDR45B AU NM_019613 exon1 c.107+181T>G 0.863219 0.8036 Uncertain 17_80574090_T->G 17 80574090 80574090 T G snp 427.77 1/1 33 12 0 12 1.0 intronic rs4789813 WDR45B AU NM_019613 exon1 c.107+189T>G 0.944688 0.999 Uncertain 17_80574532_A->G 17 80574532 80574532 A G snp 782.77 0/1 99 98 59 39 0.4 intronic rs12950772 WDR45B AU NM_019613 exon2 c.727+11A>G 0.194289 0.1558 0.207750 0.2305 0.1423 Uncertain 17_80577127_TCT->- 17 80577127 80577129 TCT - indel 241.73 0/1 99 16 11 5 0.31 intronic rs59969975 WDR45B AU NM_019613 exon4 c.3210+123_3210+125delTCT 0.188299 0.1548 Uncertain 17_80583230_A->G 17 80583230 80583230 A G snp 3356.77 0/1 99 250 120 130 0.52 intronic rs3826309 WDR45B AU NM_019613 exon6 c.9470-34A>G 0.202676 0.1607 0.204367 0.2319 0.1525 Uncertain 17_80585033_T->A 17 80585033 80585033 T A snp 83.77 0/1 69 6 3 3 0.5 intronic rs2291392 WDR45B AU NM_019613 exon7 c.11285-46T>A 0.860823 0.8026 0.823312 0.8133 0.7809 Uncertain 17_80585094_C->T 17 80585094 80585094 C T snp 447.77 0/1 99 33 16 17 0.52 exonic rs2291393 WDR45B AU synonymous SNV NM_019613 exon4 c.G318A p.K106K 0.200679 0.1548 0.204290 0.2315 0.1425 Uncertain 17_80601770_A->- 17 80601770 80601770 A - indel 1021.73 0/1 99 83 52 31 0.37 intronic rs398031787 WDR45B AU NM_019613 exon9 c.28030-54delA 0.867812 0.7996 0.825541 Uncertain 17_80602050_C->G 17 80602050 80602050 C G snp 106.77 0/1 99 13 8 5 0.38 intronic rs11649788 WDR45B AU NM_019613 exon9 c.28105+151C>G 0.21885 0.1647 Uncertain 17_80617552_G->A 17 80617552 80617552 G A snp 1038.77 0/1 99 96 49 47 0.49 intronic rs2279395 RAB40B AU NM_006822 exon3 c.1795+19G>A 0.122204 0.1796 0.159080 0.1679 0.1985 Uncertain 17_80619080_T->C 17 80619080 80619080 T C snp 343.78 1/1 27 10 0 10 1.0 intronic rs4789706 RAB40B AU NM_006822 exon4 c.3185+157T>C 0.969848 1 Uncertain 17_80622676_G->C 17 80622676 80622676 G C snp 77.77 0/1 69 5 2 3 0.6 intronic rs79751177 RAB40B AU NM_006822 exon5 c.6694+244G>C 0.116613 0.1796 Uncertain 17_80626055_C->T 17 80626055 80626055 C T snp 1952.77 0/1 99 132 54 78 0.59 intronic rs72853027 RAB40B AU NM_006822 exon5 c.6694+3623C>T 0.117612 0.1845 Uncertain 17_80626104_T->C 17 80626104 80626104 T C snp 2418.77 0/1 99 238 137 101 0.42 intronic rs12952159 RAB40B AU NM_006822 exon5 c.6694+3672T>C 0.202676 0.1597 0.25 . Uncertain 17_80626210_T->C 17 80626210 80626210 T C snp 6179.77 1/1 99 234 0 234 1.0 intronic rs7221877 RAB40B AU NM_006822 exon5 c.6694+3778T>C 0.999002 1 1 1 Uncertain 17_80656616_T->G 17 80656616 80656616 T G snp 436.77 1/1 33 11 0 11 1.0 upstream rs2243606 RAB40B AU 0.770168 0.8452 0.6667 . Uncertain 17_80674643_C->G 17 80674643 80674643 C G snp 1718.77 1/1 99 63 0 63 1.0 exonic rs2250000 FN3KRP AU synonymous SNV NM_024619 exon1 c.C12G p.L4L 0.99381 1 0.992728 0.9982 1 Uncertain 17_80674840_G->- 17 80674840 80674840 G - indel 1060.73 0/1 99 75 34 41 0.55 intronic rs10714010 FN3KRP AU NM_024619 exon1 c.141+68delG 0.363618 0.4087 Uncertain 17_80676946_-->CCACCCC 17 80676946 80676946 - CCACCCC indel 1354.73 1/1 45 30 0 30 1.0 intronic rs111661651 FN3KRP AU NM_024619 exon2 c.2302+13insCCACCCC 0.980717 0.9941 0.9997 Uncertain 17_80676971_C->G 17 80676971 80676971 C G snp 65.77 0/1 94 13 10 3 0.23 intronic rs7207719 FN3KRP AU NM_024619 exon2 c.2302+38C>G 0.348023 0.4714 0.5733 Uncertain 17_80677005_T->C 17 80677005 80677005 T C snp 143.03 1/1 12 5 0 5 1.0 intronic rs2247055 FN3KRP AU NM_024619 exon2 c.2302+72T>C 0.988219 1 Uncertain 17_80680589_G->A 17 80680589 80680589 G A snp 108.77 0/1 99 11 3 8 0.73 intronic rs3748812 FN3KRP AU NM_024619 exon4 c.6048-90G>A 0.415136 0.5268 Uncertain 17_80680760_C->A 17 80680760 80680760 C A snp 871.77 0/1 99 83 46 37 0.45 exonic rs191683466 FN3KRP AU nonsynonymous SNV NM_024619 exon4 c.C466A p.Q156K 0.000798722 0.004 0.0003 0.0031 0.02 T 1 D -0.245 T 0.851 T 0.785 P Pathogenic 17_80684638_T->C 17 80684638 80684638 T C snp 2398.77 1/1 99 83 0 83 1.0 intronic rs2246103 FN3KRP AU NM_024619 exon6 c.10077-70T>C 0.995008 1 Uncertain 17_80685126_T->C 17 80685126 80685126 T C snp 1047.77 1/1 78 28 0 28 1.0 UTR3 rs2243446 FN3KRP AU 0.994808 1 Uncertain 17_80693705_A->G 17 80693705 80693705 A G snp 409.77 1/1 30 16 0 16 1.0 intronic rs2256322 FN3K AU NM_022158 exon1 c.141+52A>G 0.995008 1 0.9989 1 Uncertain 17_80693805_C->G 17 80693805 80693805 C G snp 40.77 0/1 33 3 1 2 0.67 intronic rs2256316 FN3K AU NM_022158 exon1 c.141+152C>G 0.104233 0.0853 Uncertain 17_80696410_A->C 17 80696410 80696410 A C snp 1803.77 1/1 99 69 0 69 1.0 exonic rs2253149 FN3K AU synonymous SNV NM_022158 exon2 c.A187C p.R63R 0.995008 1 0.992542 0.9980 1 Uncertain 17_80696542_G->A 17 80696542 80696542 G A snp 2073.77 1/1 99 84 0 84 1.0 intronic rs2253132 FN3K AU NM_022158 exon2 c.3004+26G>A 0.999002 1 0.997847 0.9995 1 Uncertain 17_80696547_T->A 17 80696547 80696547 T A snp 749.77 0/1 99 83 47 36 0.43 intronic rs2253131 FN3K AU NM_022158 exon2 c.3004+31T>A 0.0952476 0.0863 0.152161 0.1460 0.0796 Uncertain 17_80696622_A->C 17 80696622 80696622 A C snp 450.77 0/1 99 27 12 15 0.56 intronic rs7216058 FN3K AU NM_022158 exon2 c.3004+106A>C 0.295128 0.495 Uncertain 17_80696692_C->T 17 80696692 80696692 C T snp 38.77 0/1 31 3 1 2 0.67 intronic rs7208565 FN3K AU NM_022158 exon2 c.3004+176C>T 0.392372 0.5298 Uncertain 17_80699093_A->G 17 80699093 80699093 A G snp 465.77 1/1 36 13 0 13 1.0 intronic rs2252848 FN3K AU NM_022158 exon4 c.5674-93A>G 0.719649 0.6984 Uncertain 17_80700592_T->C 17 80700592 80700592 T C snp 4888.77 1/1 99 186 0 186 1.0 intronic rs1994554 FN3K AU NM_022158 exon4 c.5757+1323T>C 0.995008 1 0.9996 1 Uncertain 17_80700712_T->C 17 80700712 80700712 T C snp 3444.77 1/1 99 125 0 125 1.0 intronic rs1994553 FN3K AU NM_022158 exon4 c.5757+1443T>C 0.995008 1 Uncertain 17_80706928_G->A 17 80706928 80706928 G A snp 3064.77 1/1 99 118 0 118 1.0 intronic rs2243416 FN3K AU NM_022158 exon5 c.13341+75G>A 0.687899 0.6865 0.6819 0.6946 Uncertain 17_80708601_C->G 17 80708601 80708601 C G snp 3684.77 1/1 99 133 1 132 0.99 exonic rs1056534 FN3K AU synonymous SNV NM_022158 exon6 c.C900G p.S300S 0.655152 0.6518 0.618561 0.6226 0.6327 Uncertain 17_80710278_G->C 17 80710278 80710278 G C snp 133.03 1/1 12 4 0 4 1.0 intronic rs2451217 TBCD AU NM_005993 exon1 c.184+25G>C 0.435104 0.5823 0.6 . Uncertain 17_80730527_T->C 17 80730527 80730527 T C snp 577.77 0/1 99 37 13 24 0.65 intronic rs615630 TBCD AU NM_005993 exon6 c.20314+144T>C 0.934704 0.9177 Uncertain 17_80785875_A->G 17 80785875 80785875 A G snp 2038.77 0/1 99 186 101 85 0.46 intronic rs8067667 TBCD AU NM_005993 exon13 c.62741+13065A>G 0.29373 0.4782 Uncertain 17_80786008_G->A 17 80786008 80786008 G A snp 6077.77 1/1 99 229 1 228 1.0 intronic rs6502134 TBCD AU NM_005993 exon13 c.62741+13198G>A 0.949081 1 Uncertain 17_80786027_ACAG->- 17 80786027 80786030 ACAG - indel 6120.73 0/1 99 198 91 107 0.54 intronic rs377710792 TBCD AU NM_005993 exon13 c.62741+13217_62741+13220delACAG 0.28115 0.4792 Uncertain 17_80786261_-->ACAC 17 80786261 80786261 - ACAC indel 7593.73 1/1 99 112 0 112 1.0 intronic rs138156874 TBCD AU NM_005993 exon13 c.62741+13451insACAC 0.469249 0.5605 Uncertain 17_80786428_C->- 17 80786428 80786428 C - indel 6497.73 1/1 99 221 2 219 0.99 intronic rs11364632 TBCD AU NM_005993 exon13 c.62741+13618delC 0.862819 0.9266 Uncertain 17_80786641_C->T 17 80786641 80786641 C T snp 1140.77 1/1 84 43 0 43 1.0 intronic rs7207932 TBCD AU NM_005993 exon13 c.62741+13831C>T 0.420527 0.5605 Uncertain 17_80789628_T->C 17 80789628 80789628 T C snp 2063.77 0/1 99 167 82 85 0.51 exonic rs8074277 ZNF750 AU nonsynonymous SNV NM_024702 exon2 c.A703G p.M235V 0.124601 0.0833 0.162310 0.1693 0.0800 0.022 P -0.948 T 0.001 T 0.003 T Pathogenic 17_80790388_G->A 17 80790388 80790388 G A snp 670.77 0/1 99 53 32 21 0.4 UTR5 rs12450046 ZNF750 AU 0.123203 0.0823 Uncertain 17_80790442_T->G 17 80790442 80790442 T G snp 394.77 1/1 30 11 0 11 1.0 UTR5 rs3744165 ZNF750 AU 0.790136 0.9296 Uncertain 17_80827903_C->T 17 80827903 80827903 C T snp 139.03 1/1 12 4 0 4 1.0 intronic rs9892064 TBCD AU NM_005993 exon14 c.118030-196C>T 0.566893 0.7371 Uncertain 17_80827955_A->G 17 80827955 80827955 A G snp 1868.77 1/1 99 52 0 52 1.0 intronic rs7222931 TBCD AU NM_005993 exon14 c.118030-144A>G 0.994808 1 Uncertain 17_80828057_G->A 17 80828057 80828057 G A snp 7212.77 1/1 99 250 0 250 1.0 intronic rs3744161 TBCD AU NM_005993 exon14 c.118030-42G>A 0.521565 0.7371 0.509038 0.5547 0.7252 Uncertain 17_80828303_G->A 17 80828303 80828303 G A snp 2195.77 0/1 99 174 89 85 0.49 intronic rs3744160 TBCD AU NM_005993 exon14 c.118187+47G>A 0.283347 0.4782 0.211532 0.2673 0.4623 Uncertain 17_80858669_G->A 17 80858669 80858669 G A snp 5203.77 1/1 99 191 0 191 1.0 intronic rs9891862 TBCD AU NM_005993 exon18 c.148538+62G>A 0.508586 0.7391 0.496934 Uncertain 17_80861206_A->G 17 80861206 80861206 A G snp 1614.77 0/1 99 175 107 68 0.39 intronic rs2271918 TBCD AU NM_005993 exon19 c.151211-74A>G 0.220048 0.2589 Uncertain 17_80864123_T->C 17 80864123 80864123 T C snp 171.9 1/1 15 5 0 5 1.0 intronic rs8068572 TBCD AU NM_005993 exon20 c.153860+194T>C 0.994409 1 Uncertain 17_80878389_A->G 17 80878389 80878389 A G snp 465.77 1/1 36 14 0 14 1.0 intronic rs1471197 TBCD AU NM_005993 exon24 c.168362-42A>G 0.994808 1 0.994132 0.9974 1 Uncertain 17_80878673_C->A 17 80878673 80878673 C A snp 52.78 0/1 27 5 1 4 0.8 intronic rs188326333 TBCD AU NM_005993 exon24 c.168425+179C>A Uncertain 17_80884247_T->C 17 80884247 80884247 T C snp 1777.77 0/1 99 165 88 77 0.47 intronic rs1078334 TBCD AU NM_005993 exon28 c.174206-28T>C 0.424521 0.5268 0.384378 0.3630 0.5016 Uncertain 17_80887206_A->G 17 80887206 80887206 A G snp 3483.77 0/1 99 249 110 139 0.56 intronic rs729124 TBCD AU NM_005993 exon32 c.177168-31A>G 0.317093 0.4712 0.276515 0.3012 0.4373 Uncertain 17_80887451_A->G 17 80887451 80887451 A G snp 1336.77 0/1 99 105 52 53 0.5 intronic rs2034962 TBCD AU NM_005993 exon32 c.177307+75A>G 0.659944 0.6468 0.6245 0.6466 Uncertain 17_80890638_T->C 17 80890638 80890638 T C snp 867.77 0/1 99 88 46 42 0.48 intronic rs898095 TBCD AU NM_005993 exon34 c.180542+27T>C 0.541733 0.6637 0.481883 0.5305 0.6398 Uncertain 17_80895061_G->A 17 80895061 80895061 G A snp 1303.77 0/1 99 72 28 44 0.61 intronic rs181670332 TBCD AU NM_005993 exon35 c.185077-85G>A 0.000399361 0.002 Uncertain 17_80895253_G->A 17 80895253 80895253 G A snp 1659.77 0/1 99 128 60 68 0.53 intronic rs8079398 TBCD AU NM_005993 exon35 c.185167+17G>A 0.620407 0.5764 0.552240 0.4761 0.5607 Uncertain 17_80895745_T->C 17 80895745 80895745 T C snp 1506.77 0/1 99 192 125 67 0.35 intronic rs3785520 TBCD AU NM_005993 exon36 c.185855-179T>C 0.803714 0.7381 0.7887 0.7823 0.0 P -1.038 T 0.0 T 0.0 T Uncertain 17_80895769_A->G 17 80895769 80895769 A G snp 1687.77 0/1 99 212 139 73 0.34 intronic rs3785521 TBCD AU NM_005993 exon36 c.185855-155A>G 0.798522 0.7421 0.7763 0.7793 0.0 P -1.017 T 0.0 T 0.0 T Uncertain 17_80895933_A->G 17 80895933 80895933 A G snp 1000.77 0/1 99 95 53 42 0.44 exonic rs3785522 TBCD AU nonsynonymous SNV NM_005993 exon36 c.A3290G p.E1097G 0.930911 0.9355 0.865979 0.8615 0.9343 1.0 P -0.977 T 0.0 T 0.0 T Pathogenic 17_80899281_G->A 17 80899281 80899281 G A snp 1966.77 0/1 99 182 91 91 0.5 exonic rs9390 TBCD AU synonymous SNV NM_005993 exon38 c.G3486A p.A1162A 0.429912 0.5486 0.397093 0.5224 0.5681 Uncertain 17_80904564_G->A 17 80904564 80904564 G A snp 83.77 0/1 30 5 1 4 0.8 intronic rs898098 B3GNTL1 AU 0.640775 0.7103 Uncertain 17_80923432_T->C 17 80923432 80923432 T C snp 113.77 0/1 99 9 5 4 0.44 intronic rs7217917 B3GNTL1 AU NM_001009905 exon7 c.18748-94T>C 0.601438 0.5774 Uncertain 17_80923536_C->T 17 80923536 80923536 C T snp 1126.77 0/1 99 100 49 51 0.51 exonic rs4986144 B3GNTL1 AU synonymous SNV NM_001009905 exon7 c.G591A p.E197E 0.223043 0.3214 0.270378 0.3087 0.3983 Uncertain 17_80962888_C->T 17 80962888 80962888 C T snp 46.77 0/1 33 3 1 2 0.67 intronic rs62076016 B3GNTL1 AU NM_001009905 exon8 c.58212-102C>T 0.234824 0.254 Uncertain 17_80963331_C->T 17 80963331 80963331 C T snp 2033.77 1/1 99 68 0 68 1.0 intronic rs9901757 B3GNTL1 AU NM_001009905 exon8 c.58308+245C>T 0.501398 0.4841 Uncertain 17_80992932_A->C 17 80992932 80992932 A C snp 816.77 0/1 99 72 37 35 0.49 exonic rs16940609 B3GNTL1 AU synonymous SNV NM_001009905 exon4 c.T321G p.S107S 0.174521 0.2093 0.213209 0.2042 0.1978 Uncertain 17_80993059_T->- 17 80993059 80993059 T - indel 178.73 0/1 55 27 4 23 0.85 intronic rs10717152 B3GNTL1 AU NM_001009905 exon10 c.88197+84delT 0.364417 0.3681 Uncertain 17_80993076_A->G 17 80993076 80993076 A G snp 232.03 0/1 12 12 2 10 0.83 intronic rs7405848 B3GNTL1 AU NM_001009905 exon10 c.88197+101A>G 0.174521 0.2093 Uncertain 17_81006629_C->T 17 81006629 81006629 C T snp 1336.77 0/1 99 122 62 60 0.49 exonic rs7406119 B3GNTL1 AU synonymous SNV NM_001009905 exon2 c.G93A p.P31P 0.193291 0.2073 0.227741 0.2023 0.1978 Uncertain 17_81009462_C->T 17 81009462 81009462 C T snp 107.77 0/1 99 11 5 6 0.55 intronic rs60886174 B3GNTL1 AU NM_001009905 exon13 c.104834-150C>T 0.0936502 0.1478 Uncertain 17_81009582_A->G 17 81009582 81009582 A G snp 587.77 0/1 99 41 16 25 0.61 intronic rs60997109 B3GNTL1 AU NM_001009905 exon13 c.104834-30A>G 0.163139 0.2093 0.0799 0.2024 Uncertain 17_81009595_C->T 17 81009595 81009595 C T snp 322.77 0/1 99 42 27 15 0.36 intronic rs11868631 B3GNTL1 AU NM_001009905 exon13 c.104834-17C>T 0.19369 0.2024 0.186981 0.2677 0.1792 Uncertain 17_81009636_T->G 17 81009636 81009636 T G snp 581.77 0/1 99 39 15 24 0.62 exonic rs57923322 B3GNTL1 AU nonsynonymous SNV NM_001009905 exon1 c.A37C p.S13R 0.237021 0.3393 0.145161 0.2430 0.3881 0.0 P -1.017 T 0.0 T 0.0 T Pathogenic 17_81009813_C->A 17 81009813 81009813 C A snp 74.77 0/1 99 9 4 5 0.56 upstream rs112877732 B3GNTL1 AU 0.149361 0.2024 Uncertain 17_81043039_A->G 17 81043039 81043039 A G snp 4128.77 1/1 99 140 0 140 1.0 exonic rs9908756 METRNL AU synonymous SNV NM_001004431 exon2 c.A396G p.P132P 0.786741 0.9167 0.685222 0.6889 0.9099 Uncertain 17_81050833_-->G 17 81050833 81050833 - G indel 3572.73 0/1 99 219 117 102 0.47 intronic rs74775917 METRNL AU NM_001004431 exon3 c.13220-78insG 0.677117 0.4583 Uncertain 17_81050982_G->C 17 81050982 81050982 G C snp 1926.77 0/1 99 164 80 84 0.51 intronic rs7501742 METRNL AU NM_001004431 exon3 c.13280+11G>C 0.565495 0.4415 0.637419 0.6240 0.4234 Uncertain 17_81051007_G->T 17 81051007 81051007 G T snp 1416.77 0/1 99 121 61 60 0.5 intronic rs7502442 METRNL AU NM_001004431 exon3 c.13280+36G>T 0.609425 0.4633 0.689817 0.6743 0.4640 Uncertain 17_81051887_T->G 17 81051887 81051887 T G snp 403.77 0/1 99 28 14 14 0.5 intronic rs7223467 METRNL AU NM_001004431 exon4 c.14309-113T>G 0.572484 0.4216 Uncertain 17_81052423_G->A 17 81052423 81052423 G A snp 472.77 0/1 99 29 14 15 0.52 UTR3 rs8269 METRNL AU 0.547324 0.4077 Uncertain 17_81083419_G->A 17 81083419 81083419 G A snp 693.56 0/1 7 34 5 29 0.85 intergenic rs28399067 METRNL AU 0.315296 0.244 Uncertain 18_117394_G->A 18 117394 117394 G A snp 339.77 0/1 99 15 4 11 0.73 ncRNA_intronic rs79595028 ROCK1P1 AU 0.153954 0.4831 Uncertain 18_118273_-->T 18 118273 118273 - T indel 68.73 0/1 99 22 14 8 0.36 ncRNA_intronic rs201349371 ROCK1P1 AU Uncertain 18_120645_C->T 18 120645 120645 C T snp 331.77 0/1 99 25 12 13 0.52 ncRNA_intronic rs8096198 ROCK1P1 AU 0.397165 0.496 Uncertain 18_120684_C->- 18 120684 120684 C - indel 803.73 0/1 99 50 22 28 0.56 ncRNA_intronic rs11284195 ROCK1P1 AU Uncertain 18_196829_G->A 18 196829 196829 G A snp 634.77 0/1 99 56 29 27 0.48 intronic rs655781 USP14 AU NM_005151 exon7 c.38069+62G>A 0.686901 0.5268 Uncertain 18_197742_T->- 18 197742 197742 T - indel 181.73 0/1 99 18 6 12 0.67 intronic rs35489764 USP14 AU NM_005151 exon8 c.38998+46delT 0.371605 0.2133 0.353064 0.4169 0.2485 Uncertain 18_203081_A->C 18 203081 203081 A C snp 2502.77 0/1 99 179 75 104 0.58 intronic rs471274 USP14 AU NM_005151 exon12 c.44399-16A>C 0.653155 0.5397 0.600108 0.6471 0.5653 Uncertain 18_204780_A->G 18 204780 204780 A G snp 469.77 0/1 99 50 27 23 0.46 intronic rs61607000 USP14 AU NM_005151 exon13 c.45994+88A>G 0.226438 0.2044 Uncertain 18_204815_T->A 18 204815 204815 T A snp 139.77 0/1 99 28 17 11 0.39 intronic rs56806027 USP14 AU NM_005151 exon13 c.45994+123T>A 0.68111 0.5377 Uncertain 18_204816_-->AAAAA 18 204816 204816 - AAAAA indel 804.73 0/1 99 28 17 11 0.39 intronic rs57035428 USP14 AU NM_005151 exon13 c.45994+124insAAAAA Uncertain 18_219029_G->A 18 219029 219029 G A snp 58.77 0/1 87 14 11 3 0.21 intronic rs1784834 THOC1 AU NM_005131 exon4 c.4344+60G>A Uncertain 18_224184_C->G 18 224184 224184 C G snp 2100.77 0/1 99 186 92 94 0.51 splicing rs631343 THOC1 AU NM_005131 exon6 c.9554+5C>G 0.701078 0.5317 0.664862 0.7068 0.5983 Pathogenic 18_252559_G->A 18 252559 252559 G A snp 3786.77 1/1 99 150 0 150 1.0 exonic rs657138 THOC1 AU synonymous SNV NM_005131 exon9 c.C657T p.D219D 0.954673 1 0.951748 0.9862 1 Uncertain 18_260140_T->A 18 260140 260140 T A snp 109.77 0/1 99 15 10 5 0.33 intronic rs72856275 THOC1 AU NM_005131 exon17 c.45560-45T>A 0.229034 0.2014 0.203459 0.2712 0.2198 Uncertain 18_319935_T->C 18 319935 319935 T C snp 523.77 1/1 39 17 0 17 1.0 UTR3 rs12190 COLEC12 AU 0.265575 0.0883 Uncertain 18_331827_C->T 18 331827 331827 C T snp 653.77 0/1 99 59 34 25 0.42 intronic rs9947291 COLEC12 AU NM_130386 exon3 c.11733+50C>T 0.0888578 0.003 0.100108 0.0875 0.0012 Uncertain 18_334742_C->T 18 334742 334742 C T snp 184.77 0/1 99 22 14 8 0.36 exonic rs2305027 COLEC12 AU nonsynonymous SNV NM_130386 exon6 c.G1816A p.G606S 0.367612 0.4563 0.425880 0.4353 0.4394 1.000 P -0.898 T 1.0 D 0.998 D Pathogenic 18_334758_T->C 18 334758 334758 T C snp 545.77 1/1 39 23 0 23 1.0 exonic rs2305026 COLEC12 AU synonymous SNV NM_130386 exon6 c.A1800G p.P600P 0.884984 0.9861 0.856374 0.8588 0.9920 Uncertain 18_334994_A->G 18 334994 334994 A G snp 1237.77 1/1 90 47 0 47 1.0 exonic rs2305025 COLEC12 AU nonsynonymous SNV NM_130386 exon6 c.T1564C p.S522P 0.6252 0.7907 0.619119 0.6262 0.7962 0.48 T 0.0 P -0.905 T 0.0 T 0.0 T Pathogenic 18_335244_-->A 18 335244 335244 - A indel 1089.73 0/1 99 88 48 40 0.45 intronic rs397707628 COLEC12 AU NM_130386 exon5 c.15186+14insA 0.227037 0.4008 0.144748 0.1661 0.3769 Uncertain 18_618124_T->C 18 618124 618124 T C snp 1409.77 0/1 99 108 55 53 0.49 intronic rs518471 CLUL1 AU NM_014410 exon2 c.106+18T>C 0.493211 0.4722 0.579527 0.6228 0.4425 Uncertain 18_619050_G->T 18 619050 619050 G T snp 154.77 0/1 99 13 6 7 0.54 intronic rs546696 CLUL1 AU NM_014410 exon3 c.1212-162G>T 0.566294 0.497 Uncertain 18_624783_A->G 18 624783 624783 A G snp 992.77 1/1 72 35 0 35 1.0 intronic rs495688 CLUL1 AU NM_014410 exon4 c.6864-81A>G 0.991414 1 Uncertain 18_624824_T->C 18 624824 624824 T C snp 1506.77 1/1 99 55 0 55 1.0 intronic rs495799 CLUL1 AU NM_014410 exon4 c.6864-40T>C 0.948482 1 0.949523 0.9859 1 Uncertain 18_625070_G->A 18 625070 625070 G A snp 1086.77 1/1 78 37 0 37 1.0 intronic rs498466 CLUL1 AU NM_014410 exon4 c.7032+38G>A 0.991414 1 0.994305 0.9984 1 Uncertain 18_627023_G->A 18 627023 627023 G A snp 50.77 0/1 79 16 13 3 0.19 intronic rs202242852 CLUL1 AU NM_014410 exon5 c.9096-73G>A Uncertain 18_627023_-->A 18 627023 627023 - A indel 533.73 1/1 45 16 0 16 1.0 intronic CLUL1 AU NM_014410 exon5 c.9096-73insA Uncertain 18_627030_A->G 18 627030 627030 A G snp 36.77 0/1 65 37 33 4 0.11 intronic rs201845141 CLUL1 AU NM_014410 exon5 c.9096-66A>G 0.693291 0.745 Uncertain 18_627030_-->AAG 18 627030 627030 - AAG indel 1148.73 0/1 43 37 6 31 0.84 intronic CLUL1 AU NM_014410 exon5 c.9096-66insAAG Uncertain 18_627044_C->T 18 627044 627044 C T snp 1989.77 1/1 99 68 1 67 0.99 intronic rs66514874 CLUL1 AU NM_014410 exon5 c.9096-52C>T Uncertain 18_645176_C->A 18 645176 645176 C A snp 1984.77 1/1 99 59 0 59 1.0 intronic rs565034 CLUL1 AU NM_014410 exon8 c.27097+79C>A 0.997804 1 Uncertain 18_658064_G->C 18 658064 658064 G C snp 7948.77 1/1 99 250 0 250 1.0 exonic rs2853533 TYMSOS AU nonsynonymous SNV NM_001012716 exon1 c.C184G p.R62G 0.339058 0.5476 0.202619 0.3546 0.6048 0 D 0.000 P -0.934 T 0.974 D 0.681 D Pathogenic 18_658332_C->T 18 658332 658332 C T snp 1864.77 1/1 99 61 0 61 1.0 UTR5 rs72634355 TYMSOS AU 0.321086 0.5843 Uncertain 18_658430_G->C 18 658430 658430 G C snp 50.74 1/1 6 2 0 2 1.0 intronic rs2847612 TYMS AU NM_001071 exon1 c.205+483G>C 0.326478 0.5149 Uncertain 18_659829_A->G 18 659829 659829 A G snp 800.77 1/1 60 20 0 20 1.0 intronic rs2853539 TYMS AU NM_001071 exon2 c.1972+115A>G 0.61901 0.6935 Uncertain 18_662103_G->A 18 662103 662103 G A snp 565.77 1/1 42 20 0 20 1.0 intronic rs1001761 TYMS AU NM_001071 exon3 c.4403-42G>A 0.614217 0.6905 0.561741 0.5137 0.6926 Uncertain 18_662370_T->C 18 662370 662370 T C snp 721.77 1/1 54 25 0 25 1.0 intronic rs2612095 TYMS AU NM_001071 exon3 c.4578+50T>C 0.614417 0.6915 0.561895 0.5137 0.6921 Uncertain 18_662414_A->G 18 662414 662414 A G snp 74.77 0/1 99 10 7 3 0.3 intronic rs539787729 TYMS AU NM_001071 exon3 c.4578+94A>G 0.000199681 0.001 Uncertain 18_669293_TTGA->- 18 669293 669296 TTGA - indel 2880.73 1/1 99 55 0 55 1.0 intronic rs147919381 TYMS AU NM_001071 exon4 c.11431+120_11431+123delTTGA 0.494808 0.6845 Uncertain 18_670541_A->G 18 670541 670541 A G snp 676.77 1/1 51 21 0 21 1.0 UTR3 rs2847609 ENOSF1 AU 0.495208 0.6835 Uncertain 18_670551_G->A 18 670551 670551 G A snp 167.77 0/1 99 22 15 7 0.32 UTR3 rs36005458 ENOSF1 AU 0.00159744 0.0069 Uncertain 18_671520_C->T 18 671520 671520 C T snp 5261.77 1/1 99 178 0 178 1.0 UTR3 rs2853536 ENOSF1 AU 0.497804 0.6944 Uncertain 18_671648_A->T 18 671648 671648 A T snp 1093.77 1/1 81 32 0 32 1.0 UTR3 rs2853537 ENOSF1 AU Uncertain 18_672792_C->T 18 672792 672792 C T snp 1665.77 1/1 99 54 0 54 1.0 UTR3 rs1059394 ENOSF1 AU 0.497804 0.6944 Uncertain 18_673016_C->T 18 673016 673016 C T snp 5479.77 1/1 99 199 0 199 1.0 UTR3 rs699517 ENOSF1 AU 0.498003 0.6944 0.392204 0.3867 0.6927 Uncertain 18_673086_A->G 18 673086 673086 A G snp 2303.77 1/1 99 82 0 82 1.0 UTR3 rs2790 ENOSF1 AU 0.29393 0.3909 Uncertain 18_674440_A->C 18 674440 674440 A C snp 6370.77 1/1 99 238 0 238 1.0 intronic rs11081251 ENOSF1 AU NM_017512 exon1 c.102+34A>C 0.449481 0.6944 0.340151 0.3732 0.6947 Uncertain 18_674535_T->C 18 674535 674535 T C snp 2594.77 1/1 99 100 5 95 0.95 intronic rs2847172 ENOSF1 AU NM_017512 exon1 c.102+129T>C 0.559505 0.6895 Uncertain 18_674645_T->C 18 674645 674645 T C snp 54.74 1/1 6 2 0 2 1.0 intronic rs9953424 ENOSF1 AU NM_017512 exon1 c.102+239T>C 0.4998 0.6944 Uncertain 18_675307_A->G 18 675307 675307 A G snp 418.77 0/1 99 40 20 20 0.5 intronic rs3819102 ENOSF1 AU NM_017512 exon2 c.1016-13A>G 0.0786741 0.2331 0.027761 0.0577 0.3044 Uncertain 18_677214_G->A 18 677214 677214 G A snp 1839.77 1/1 99 60 0 60 1.0 intronic rs7229142 ENOSF1 AU NM_017512 exon3 c.3040-130G>A 0.392372 0.4583 Uncertain 18_677240_G->A 18 677240 677240 G A snp 2669.77 1/1 99 88 0 88 1.0 intronic rs3819101 ENOSF1 AU NM_017512 exon3 c.3040-104G>A 0.392772 0.4593 Uncertain 18_677302_G->A 18 677302 677302 G A snp 3948.77 1/1 99 144 1 143 0.99 intronic rs2298583 ENOSF1 AU NM_017512 exon3 c.3040-42G>A 0.392372 0.4583 0.343764 0.3463 0.4489 Uncertain 18_677931_C->G 18 677931 677931 C G snp 2068.77 1/1 99 69 0 69 1.0 intronic rs2298581 ENOSF1 AU NM_017512 exon4 c.3568+59C>G 0.285743 0.3889 Uncertain 18_678947_A->G 18 678947 678947 A G snp 769.77 1/1 57 24 0 24 1.0 intronic rs2741186 ENOSF1 AU NM_017512 exon5 c.4433+210A>G 0.657748 0.7034 Uncertain 18_683441_G->A 18 683441 683441 G A snp 797.77 1/1 60 26 0 26 1.0 intronic rs11081266 ENOSF1 AU NM_017512 exon6 c.9076+61G>A 0.30012 0.379 Uncertain 18_685797_C->T 18 685797 685797 C T snp 2122.77 1/1 99 68 0 68 1.0 intronic rs2847329 ENOSF1 AU NM_017512 exon7 c.11616-123C>T 0.65635 0.6845 Uncertain 18_688463_G->T 18 688463 688463 G T snp 1254.77 1/1 90 44 0 44 1.0 intronic rs2612088 ENOSF1 AU NM_017512 exon8 c.14269-110G>T 0.654353 0.6806 Uncertain 18_691173_G->A 18 691173 691173 G A snp 4109.77 1/1 99 154 0 154 1.0 intronic rs2612087 ENOSF1 AU NM_017512 exon11 c.16899-30G>A 0.655351 0.6806 0.634553 0.5931 0.6851 Uncertain 18_693977_G->A 18 693977 693977 G A snp 4060.77 1/1 99 148 0 148 1.0 intronic rs2305995 ENOSF1 AU NM_017512 exon12 c.19604+69G>A 0.400359 0.5873 0.287998 Uncertain 18_693987_CT->- 18 693987 693988 CT - indel 6480.73 1/1 99 136 0 136 1.0 intronic rs3217714 ENOSF1 AU NM_017512 exon12 c.19604+79_19604+80delCT 0.655551 0.6815 0.636146 Uncertain 18_694206_A->G 18 694206 694206 A G snp 4305.77 1/1 99 143 0 143 1.0 intronic rs2847602 ENOSF1 AU NM_017512 exon13 c.19943-41A>G 0.667931 0.6825 0.663796 0.6265 0.6887 Uncertain 18_706322_-->ACTG 18 706322 706322 - ACTG indel 1245.73 1/1 51 17 0 17 1.0 intronic rs3831414 ENOSF1 AU NM_017512 exon15 c.32165-147insACTG 0.629593 0.6815 Uncertain 18_706589_A->G 18 706589 706589 A G snp 4608.77 1/1 99 152 0 152 1.0 intronic rs2612102 ENOSF1 AU NM_017512 exon15 c.32274+11A>G 0.646366 0.6815 0.625404 0.5877 0.6831 Uncertain 18_712320_CGG->- 18 712320 712322 CGG - indel 960.73 1/1 51 17 0 17 1.0 intronic rs201400136 ENOSF1 AU NM_202758 exon15 c.38055-39_38055-37delCGG 0.644968 0.748 0.454485 0.5529 0.6768 Uncertain 18_724612_A->G 18 724612 724612 A G snp 3635.77 1/1 99 136 0 136 1.0 exonic rs537141 YES1 AU synonymous SNV NM_005433 exon12 c.T1444C p.L482L 0.989816 1 0.991312 0.9973 1 Uncertain 18_739919_T->- 18 739919 739919 T - indel 198.77 1/1 21 7 0 7 1.0 intronic rs3840903 YES1 AU NM_005433 exon4 c.15388+108delT Uncertain 18_742858_C->T 18 742858 742858 C T snp 1011.77 1/1 75 30 0 30 1.0 intronic rs9961743 YES1 AU NM_005433 exon5 c.18494-59C>T 0.616214 0.7014 Uncertain 18_743226_A->G 18 743226 743226 A G snp 135.03 1/1 12 4 0 4 1.0 intronic rs3786347 YES1 AU NM_005433 exon6 c.18836-33A>G 0.617412 0.7014 0.565970 0.5596 0.7055 Uncertain 18_743436_T->C 18 743436 743436 T C snp 730.77 1/1 54 26 0 26 1.0 intronic rs3786348 YES1 AU NM_005433 exon6 c.18992+21T>C 0.617212 0.7014 0.566221 0.5642 0.7094 Uncertain 18_751880_-->A 18 751880 751880 - A indel 115.73 0/1 43 15 3 12 0.8 intronic rs34440107 YES1 AU NM_005433 exon10 c.27381+76insA Uncertain 18_904766_G->C 18 904766 904766 G C snp 914.77 0/1 99 74 37 37 0.5 upstream rs2231181 ADCYAP1 AU 0.544529 0.3333 0.6570 0.3971 1 T -0.957 T Uncertain 18_905125_A->G 18 905125 905125 A G snp 882.77 1/1 66 29 0 29 1.0 intronic rs1893154 ADCYAP1 AU 0.753794 0.9058 Uncertain 18_905537_T->C 18 905537 905537 T C snp 2972.77 1/1 99 100 0 100 1.0 intronic rs2231183 ADCYAP1 AU NM_001099733 exon2 c.110+40T>C 0.924521 0.994 0.925561 0.9603 0.9933 Uncertain 18_907675_G->A 18 907675 907675 G A snp 4199.77 1/1 99 163 0 163 1.0 exonic rs8192597 ADCYAP1 AU synonymous SNV NM_001099733 exon3 c.G126A p.A42A 0.702077 0.8492 0.651984 0.7364 0.8453 Uncertain 18_909561_A->G 18 909561 909561 A G snp 2798.77 1/1 99 103 0 103 1.0 exonic rs2231187 ADCYAP1 AU synonymous SNV NM_001099733 exon5 c.A456G p.K152K 0.202476 0.2411 0.257266 0.2785 0.2291 Uncertain 18_1278665_C->T 18 1278665 1278665 C T snp 1585.77 0/1 99 110 44 66 0.6 ncRNA_intronic rs1595005 LINC00470 AU 0.35623 0.4335 0.4264 0.4604 Uncertain 18_2539016_C->G 18 2539016 2539016 C G snp 4731.77 1/1 99 188 0 188 1.0 exonic rs8084295 METTL4 AU nonsynonymous SNV NM_022840 exon9 c.G1402C p.V468L 0.973642 1 0.976626 0.9934 0.9999 1 T 0.0 P -0.985 T 0.0 T 0.0 T Pathogenic 18_2544356_T->C 18 2544356 2544356 T C snp 71.77 0/1 99 8 5 3 0.38 intronic rs2176451 METTL4 AU NM_022840 exon2 c.5287+71T>C 0.214856 0.0486 Uncertain 18_2547500_G->T 18 2547500 2547500 G T snp 4534.77 1/1 99 165 0 165 1.0 exonic rs2677879 METTL4 AU nonsynonymous SNV NM_022840 exon6 c.C928A p.Q310K 0.593051 0.3462 0.679917 0.5865 0.3421 1 T 0.000 P -0.905 T 0.0 T 0.0 T Pathogenic 18_2575272_C->T 18 2575272 2575272 C T snp 72.77 0/1 99 8 5 3 0.38 intronic rs12960772 NDC80 AU NM_006101 exon3 c.2081+207C>T 0.161142 0.126 Uncertain 18_2585077_G->A 18 2585077 2585077 G A snp 373.77 0/1 99 33 18 15 0.45 intronic rs6506019 NDC80 AU NM_006101 exon7 c.12127-34G>A 0.391573 0.2609 0.436558 0.3475 0.2680 Uncertain 18_2590334_T->C 18 2590334 2590334 T C snp 69.77 0/1 98 6 3 3 0.5 intronic rs7241590 NDC80 AU NM_006101 exon10 c.17177+173T>C 0.751597 0.875 Uncertain 18_2610978_G->A 18 2610978 2610978 G A snp 130.78 0/1 27 7 1 6 0.86 intronic rs3817350 NDC80 AU NM_006101 exon16 c.37876+118G>A 0.830272 0.9583 Uncertain 18_2616457_G->C 18 2616457 2616457 G C snp 231.77 0/1 99 25 13 12 0.48 exonic rs9051 NDC80 AU nonsynonymous SNV NM_006101 exon17 c.G1813C p.A605P 0.183506 0.125 0.205334 0.2151 0.1293 0.26 T 0.000 P -1.027 T 0.162 T 0.062 T Pathogenic 18_2656248_G->C 18 2656248 2656248 G C snp 908.77 0/1 99 94 52 42 0.45 exonic rs2430853 SMCHD1 AU synonymous SNV NM_015295 exon1 c.G174C p.A58A 0.630591 0.3274 0.643195 0.5757 0.3429 Uncertain 18_2666046_A->C 18 2666046 2666046 A C snp 116.77 0/1 99 8 4 4 0.5 intronic rs9947882 SMCHD1 AU NM_015295 exon2 c.10081-109A>C 0.21885 0.2907 Uncertain 18_2688798_G->A 18 2688798 2688798 G A snp 349.78 1/1 27 10 0 10 1.0 intronic rs637651 SMCHD1 AU NM_015295 exon7 c.32671+53G>A 0.814696 1 Uncertain 18_2698125_T->C 18 2698125 2698125 T C snp 263.8 1/1 21 8 0 8 1.0 intronic rs626994 SMCHD1 AU NM_015295 exon10 c.41965+86T>C 0.814696 1 Uncertain 18_2705633_T->A 18 2705633 2705633 T A snp 54.74 1/1 6 3 0 3 1.0 intronic rs8090967 SMCHD1 AU NM_015295 exon14 c.49617-58T>A 0.404952 0.378 Uncertain 18_2705675_T->A 18 2705675 2705675 T A snp 112.77 0/1 99 10 4 6 0.6 intronic rs8090988 SMCHD1 AU NM_015295 exon14 c.49617-16T>A 0.325879 0.3433 0.239276 0.2954 0.3555 Uncertain 18_2705700_A->G 18 2705700 2705700 A G snp 281.77 0/1 99 27 15 12 0.44 exonic rs635132 SMCHD1 AU synonymous SNV NM_015295 exon14 c.A1851G p.T617T 0.584665 0.7103 0.608304 0.6857 0.6741 Uncertain 18_2722330_G->T 18 2722330 2722330 G T snp 83.28 1/1 9 3 0 3 1.0 intronic SMCHD1 AU NM_015295 exon20 c.66442-186G>T Uncertain 18_2722331_G->T 18 2722331 2722331 G T snp 56.74 1/1 6 3 0 3 1.0 intronic SMCHD1 AU NM_015295 exon20 c.66442-185G>T Uncertain 18_2726365_C->G 18 2726365 2726365 C G snp 408.77 0/1 99 41 24 17 0.41 intronic rs16943716 SMCHD1 AU NM_015295 exon22 c.70375-84C>G 0.215855 0.2877 Uncertain 18_2738352_-->AGAC 18 2738352 2738352 - AGAC indel 777.73 0/1 99 25 12 13 0.52 intronic rs10638660 SMCHD1 AU NM_015295 exon26 c.82320-42insAGAC 0.387181 0.5228 0.275378 0.3407 0.5098 Uncertain 18_2738580_C->T 18 2738580 2738580 C T snp 1599.77 0/1 99 148 78 70 0.47 intronic rs8094260 SMCHD1 AU NM_015295 exon26 c.82469+37C>T 0.387181 0.5228 0.274416 0.3429 0.5041 Uncertain 18_2740714_A->G 18 2740714 2740714 A G snp 229.77 0/1 99 23 12 11 0.48 exonic rs12327477 SMCHD1 AU synonymous SNV NM_015295 exon28 c.A3528G p.T1176T 0.386182 0.5228 0.277027 0.3382 0.5043 Uncertain 18_2750204_C->T 18 2750204 2750204 C T snp 1160.77 0/1 99 109 61 48 0.44 intronic rs2304861 SMCHD1 AU NM_015295 exon31 c.94046+84C>T 0.173323 0.4355 Uncertain 18_2750238_A->G 18 2750238 2750238 A G snp 1103.77 0/1 99 75 37 38 0.51 intronic rs2304860 SMCHD1 AU NM_015295 exon32 c.94273-109A>G 0.216054 0.2877 Uncertain 18_2750477_A->G 18 2750477 2750477 A G snp 879.77 0/1 99 67 28 39 0.58 exonic rs2304859 SMCHD1 AU synonymous SNV NM_015295 exon32 c.A4137G p.A1379A 0.385982 0.5218 0.275173 0.3782 0.5328 Uncertain 18_2751475_A->G 18 2751475 2751475 A G snp 772.77 1/1 57 24 0 24 1.0 intronic rs300293 SMCHD1 AU NM_015295 exon33 c.95317+84A>G 0.959665 1 Uncertain 18_2771516_G->T 18 2771516 2771516 G T snp 1103.77 1/1 42 46 1 45 0.98 intronic rs300291 SMCHD1 AU NM_015295 exon40 c.115456-14G>T 0.980431 1 0.982198 0.9949 1 Uncertain 18_2771643_-->T 18 2771643 2771643 - T indel 437.73 0/1 99 29 7 22 0.76 intronic rs3214732 SMCHD1 AU NM_015295 exon40 c.115542+27insT 0.376597 0.5327 0.271977 0.3351 0.5155 Uncertain 18_2777923_A->G 18 2777923 2777923 A G snp 667.77 0/1 99 78 46 32 0.41 intronic rs3213926 SMCHD1 AU NM_015295 exon43 c.121839+10A>G 0.376597 0.5327 0.257510 0.3443 0.5657 Uncertain 18_2784405_GAAA->- 18 2784405 2784408 GAAA - indel 1121.73 0/1 99 41 24 17 0.41 intronic rs35853884 SMCHD1 AU NM_015295 exon45 c.128373-42_128373-39delGAAA 0.270767 0.2738 0.242181 0.2988 0.3512 Uncertain 18_2795852_A->G 18 2795852 2795852 A G snp 510.77 0/1 99 25 10 15 0.6 intronic rs2298498 SMCHD1 AU NM_015295 exon46 c.139872-94A>G 0.376398 0.5327 Uncertain 18_2847361_C->G 18 2847361 2847361 C G snp 45.77 0/1 74 8 4 4 0.5 intronic rs112881773 EMILIN2 AU NM_032048 exon1 c.134+41C>G 0.184704 0.1567 0.4266 0.2895 Uncertain 18_2847730_C->G 18 2847730 2847730 C G snp 700.77 1/1 51 24 0 24 1.0 intronic rs2289687 EMILIN2 AU NM_032048 exon2 c.620-76C>G 0.359625 0.4504 Uncertain 18_2847744_C->T 18 2847744 2847744 C T snp 328.77 0/1 99 31 19 12 0.39 intronic rs2289686 EMILIN2 AU NM_032048 exon2 c.620-62C>T 0.128195 0.2847 Uncertain 18_2892474_G->A 18 2892474 2892474 G A snp 1533.77 1/1 99 54 0 54 1.0 exonic rs16943989 EMILIN2 AU synonymous SNV NM_032048 exon4 c.G2349A p.Q783Q 0.158546 0.1111 0.132939 0.1623 0.1143 Uncertain 18_2892562_A->C 18 2892562 2892562 A C snp 520.77 1/1 39 18 0 18 1.0 intronic rs9956161 EMILIN2 AU NM_032048 exon4 c.45298+78A>C 0.157149 0.1171 Uncertain 18_2909831_C->G 18 2909831 2909831 C G snp 4817.77 1/1 99 174 0 174 1.0 intronic rs607411 EMILIN2 AU NM_032048 exon7 c.62631+14C>G 0.707668 0.8214 0.703829 0.7869 0.8004 Uncertain 18_2920288_G->A 18 2920288 2920288 G A snp 926.77 0/1 99 80 40 40 0.5 UTR3 rs3745012 LPIN2 AU 0.36222 0.5635 0.247424 0.3131 0.6068 ID=CR076713;DIS=Diabetes, type 2, association with;TAG=DP;PUB=17804763 DP Uncertain 18_2920725_A->T 18 2920725 2920725 A T snp 943.77 0/1 99 81 44 37 0.46 intronic rs3737514 LPIN2 AU NM_014646 exon2 c.485-50A>T 0.283147 0.5685 0.146778 0.1907 0.5971 Uncertain 18_2920933_C->G 18 2920933 2920933 C G snp 1219.77 0/1 99 75 29 46 0.61 intronic rs147371751 LPIN2 AU NM_014646 exon2 c.589+54C>G 0.00459265 0.0218 Uncertain 18_2921444_T->C 18 2921444 2921444 T C snp 1749.77 0/1 99 138 69 69 0.5 intronic rs2282635 LPIN2 AU NM_014646 exon3 c.1240-86T>C 0.40595 0.621 Uncertain 18_2927023_G->T 18 2927023 2927023 G T snp 141.03 1/1 12 4 0 4 1.0 intronic rs602233 LPIN2 AU NM_014646 exon8 c.6513+220G>T 0.436701 0.372 Uncertain 18_2946291_C->T 18 2946291 2946291 C T snp 6958.77 1/1 99 237 0 237 1.0 ncRNA_exonic rs643507 LOC727896 AU 0.900359 0.9931 0.9579 0.9946 Uncertain 18_2951460_A->T 18 2951460 2951460 A T snp 31.77 0/1 60 4 2 2 0.5 intronic LPIN2 AU NM_014646 exon17 c.31064+106A>T Uncertain 18_2954439_C->T 18 2954439 2954439 C T snp 1476.77 0/1 99 118 57 61 0.52 intronic rs7226624 LPIN2 AU NM_014646 exon18 c.34211-62C>T 0.510783 0.5992 Uncertain 18_2960970_TATTAA->- 18 2960970 2960975 TATTAA - indel 746.73 0/1 99 15 4 11 0.73 intronic rs17881253 LPIN2 AU NM_014646 exon19 c.40557+123_40557+128delTATTAA 0.474042 0.3978 Uncertain 18_2982817_C->A 18 2982817 2982817 C A snp 886.77 1/1 66 28 0 28 1.0 intronic rs1539792 LPIN2 AU NM_014646 exon19 c.40557+21970C>A 1 1 1 1 Uncertain 18_3067278_A->G 18 3067278 3067278 A G snp 529.77 0/1 99 32 13 19 0.59 exonic rs2230164 MYOM1 AU synonymous SNV NM_003803 exon38 c.T5040C p.G1680G 0.594449 0.5308 0.570654 0.5696 0.5810 Uncertain 18_3075503_-->AAA 18 3075503 3075503 - AAA indel 12551.7 1/1 99 196 0 196 1.0 intronic rs10667835 MYOM1 AU NM_019856 exon3 c.8215+29insAAA 0.992612 0.999 0.995255 0.9961 1 Uncertain 18_3084152_C->T 18 3084152 3084152 C T snp 570.77 1/1 45 16 0 16 1.0 intronic rs8096747 MYOM1 AU NM_019856 exon7 c.16766+127C>T 0.863019 0.7411 Uncertain 18_3085192_T->- 18 3085192 3085192 T - indel 723.73 1/1 78 38 0 38 1.0 intronic rs148266515 MYOM1 AU NM_019856 exon8 c.17871+62delT Uncertain 18_3089522_G->T 18 3089522 3089522 G T snp 1717.77 1/1 99 60 1 59 0.98 intronic rs948298 MYOM1 AU NM_019856 exon11 c.22275-12G>T 0.800319 0.7411 0.807304 0.8092 0.7246 Uncertain 18_3100051_T->C 18 3100051 3100051 T C snp 93.28 1/1 9 3 0 3 1.0 intronic rs6506059 MYOM1 AU NM_019856 exon14 c.32897-105T>C 0.913339 0.9683 Uncertain 18_3100429_G->A 18 3100429 3100429 G A snp 2094.77 0/1 99 201 108 93 0.46 splicing rs7232329 MYOM1 AU NM_019856 exon15 c.33165+5G>A 0.348043 0.3562 0.366976 0.4422 0.3853 Pathogenic 18_3102257_C->G 18 3102257 3102257 C G snp 44.74 1/1 6 2 0 2 1.0 intronic rs35205553 MYOM1 AU NM_019856 exon16 c.35212-214C>G 0.449681 0.5099 Uncertain 18_3112096_G->T 18 3112096 3112096 G T snp 54.74 1/1 6 2 0 2 1.0 intronic rs8096115 MYOM1 AU NM_019856 exon17 c.45036-199G>T 0.599241 0.7748 Uncertain 18_3112120_T->C 18 3112120 3112120 T C snp 99.28 1/1 9 3 0 3 1.0 intronic rs8084318 MYOM1 AU NM_019856 exon17 c.45036-175T>C 0.59984 0.7728 Uncertain 18_3112231_G->C 18 3112231 3112231 G C snp 1496.77 1/1 99 48 0 48 1.0 intronic rs8096379 MYOM1 AU NM_019856 exon17 c.45036-64G>C 0.596046 0.7738 Uncertain 18_3120060_G->A 18 3120060 3120060 G A snp 159.9 1/1 15 11 0 11 1.0 intronic rs6506068 MYOM1 AU NM_019856 exon19 c.52734+67G>A 0.852436 0.9762 Uncertain 18_3126632_C->T 18 3126632 3126632 C T snp 546.77 1/1 42 14 0 14 1.0 intronic rs7505167 MYOM1 AU NM_019856 exon20 c.59439-66C>T 0.813698 0.9494 Uncertain 18_3126811_A->G 18 3126811 3126811 A G snp 7069.77 1/1 99 250 0 250 1.0 exonic rs1071600 MYOM1 AU nonsynonymous SNV NM_003803 exon19 c.T2879C p.I960T 0.254393 0.3204 0.179584 0.1997 0.3306 0.63 T 0.000 P -0.949 T 0.0 T 0.002 T Pathogenic 18_3129131_T->C 18 3129131 3129131 T C snp 93.28 1/1 9 3 0 3 1.0 intronic rs8089599 MYOM1 AU NM_003803 exon21 c.61970-98T>C 0.796326 0.9494 Uncertain 18_3134555_T->A 18 3134555 3134555 T A snp 222.84 1/1 18 6 0 6 1.0 intronic rs7505171 MYOM1 AU NM_019856 exon22 c.67388-92T>A 0.660743 0.9067 Uncertain 18_3134610_A->G 18 3134610 3134610 A G snp 210.77 0/1 99 22 14 8 0.36 intronic rs17177458 MYOM1 AU NM_019856 exon22 c.67388-37A>G 0.238019 0.3175 0.161449 0.1978 0.3158 Uncertain 18_3176040_C->G 18 3176040 3176040 C G snp 765.77 0/1 99 78 45 33 0.42 exonic rs8099021 MYOM1 AU nonsynonymous SNV NM_003803 exon6 c.G1022C p.G341A 0.757188 0.7421 0.745627 0.7384 0.7506 0.0 P -0.916 T 0.0 T 0.001 T Pathogenic 18_3188976_A->G 18 3188976 3188976 A G snp 2679.77 0/1 99 234 124 110 0.47 exonic rs1962519 MYOM1 AU nonsynonymous SNV NM_003803 exon4 c.T541C p.S181P 0.443291 0.8363 0.341325 0.4374 0.8196 0.32 T 0.000 P -0.993 T 0.978 D 0.719 D Pathogenic 18_3215230_C->T 18 3215230 3215230 C T snp 1145.77 0/1 99 81 33 48 0.59 UTR5 rs1662315 MYOM1 AU 0.335663 0.6131 0.242201 0.3041 0.6376 Uncertain 18_3252130_T->C 18 3252130 3252130 T C snp 1511.77 1/1 99 44 0 44 1.0 intronic rs16944555 MYL12A AU 0.163339 0.2768 Uncertain 18_3252391_C->A 18 3252391 3252391 C A snp 1593.77 1/1 99 49 0 49 1.0 intronic rs56309710 MYL12A AU NM_001303049 exon1 c.3+68C>A 0.163139 0.2768 Uncertain 18_3253048_T->C 18 3253048 3253048 T C snp 258.8 1/1 21 7 0 7 1.0 intronic rs716351 MYL12A AU NM_001303049 exon2 c.910-182T>C 0.685304 0.8165 Uncertain 18_3253569_C->T 18 3253569 3253569 C T snp 806.77 1/1 60 21 0 21 1.0 intronic rs6417016 MYL12A AU NM_001303048 exon2 c.181+143C>T 0.685104 0.8165 Uncertain 18_3255700_C->T 18 3255700 3255700 C T snp 5019.77 1/1 99 181 0 181 1.0 ncRNA_exonic rs12606445 LOC104968399 AU 0.163738 0.2768 0.123328 0.1452 0.2512 Uncertain 18_3272744_A->G 18 3272744 3272744 A G snp 182.9 1/1 15 5 0 5 1.0 intronic rs7242012 MYL12B AU 0.933307 0.8938 Uncertain 18_3272798_A->T 18 3272798 3272798 A T snp 398.77 1/1 30 13 0 13 1.0 intronic rs6506097 MYL12B AU 0.921925 0.8661 Uncertain 18_3272799_G->A 18 3272799 3272799 G A snp 385.77 1/1 30 13 0 13 1.0 intronic rs6506098 MYL12B AU 0.928514 0.8839 Uncertain 18_3272855_C->T 18 3272855 3272855 C T snp 982.77 1/1 72 39 0 39 1.0 intronic rs6506099 MYL12B AU 0.930511 0.8938 0.973935 0.9535 0.8638 Uncertain 18_3272874_T->A 18 3272874 3272874 T A snp 1345.77 1/1 71 53 1 52 0.98 intronic rs7407072 MYL12B AU 0.928914 0.8938 0.971321 0.9512 0.8626 Uncertain 18_3273153_C->T 18 3273153 3273153 C T snp 895.77 1/1 66 31 0 31 1.0 intronic rs7407045 MYL12B AU NM_001144944 exon2 c.184+73C>T 0.933307 0.8938 Uncertain 18_3277237_G->T 18 3277237 3277237 G T snp 949.77 1/1 72 25 0 25 1.0 intronic rs10853294 MYL12B AU NM_001144944 exon3 c.4354-13G>T 0.927516 0.8938 0.969937 0.9520 0.8634 Uncertain 18_3277466_T->C 18 3277466 3277466 T C snp 4793.77 1/1 99 171 0 171 1.0 intronic rs6506100 MYL12B AU NM_001144944 exon3 c.4516+54T>C 0.927516 0.8938 Uncertain 18_3277467_G->A 18 3277467 3277467 G A snp 4896.77 1/1 99 171 0 171 1.0 intronic rs6506101 MYL12B AU NM_001144944 exon3 c.4516+55G>A 0.927516 0.8938 Uncertain 18_3277691_A->T 18 3277691 3277691 A T snp 2292.77 1/1 99 79 0 79 1.0 intronic rs6506102 MYL12B AU NM_001144944 exon4 c.4866-71A>T 0.934305 0.8938 Uncertain 18_3447725_C->T 18 3447725 3447725 C T snp 1460.77 0/1 99 113 62 51 0.45 intergenic rs238137 MYL12B AU 0.0836661 0.0923 0.068738 0.0481 0.0911 Uncertain 18_3447871_T->C 18 3447871 3447871 T C snp 2086.77 0/1 99 192 107 85 0.44 intergenic rs151472 MYL12B AU 0.633187 0.3988 Uncertain 18_3457185_T->G 18 3457185 3457185 T G snp 170.77 0/1 99 18 11 7 0.39 intronic rs11661340 TGIF1 AD NM_173210 exon3 c.967-177T>G 0.127396 0.2748 Uncertain 18_3457244_G->C 18 3457244 3457244 G C snp 798.77 0/1 99 64 33 31 0.48 intronic rs451488 TGIF1 AD NM_173210 exon3 c.967-118G>C 0.245807 0.2728 Uncertain 18_3457539_A->G 18 3457539 3457539 A G snp 792.77 0/1 99 75 42 33 0.44 exonic rs2229337 TGIF1 AD synonymous SNV NM_173208 exon4 c.A420G p.P140P 0.191494 0.2778 0.145318 0.1072 0.2884 Uncertain 18_3534175_G->A 18 3534175 3534175 G A snp 3233.06 0/1 99 250 124 126 0.5 intronic rs2072389 DLGAP1 AU NM_001242763 exon4 c.35009-16G>A 0.147165 0.1647 0.199446 0.1980 0.1624 Uncertain 18_3580742_A->G 18 3580742 3580742 A G snp 1032.77 0/1 99 93 50 43 0.46 intronic rs475528 DLGAP1 AU NM_001242763 exon6 c.82690-1130A>G 0.120008 0.1746 Uncertain 18_3580849_G->A 18 3580849 3580849 G A snp 125.85 0/1 17 5 1 4 0.8 intronic rs655787 DLGAP1 AU NM_001242763 exon6 c.82690-1023G>A 0.379393 0.6835 Uncertain 18_3582272_A->C 18 3582272 3582272 A C snp 948.77 0/1 99 63 29 34 0.54 intronic rs11662259 DLGAP1 AU NM_001242763 exon6 c.83064+26A>C 0.179912 0.1558 0.183377 0.1955 0.1796 Uncertain 18_3596818_T->A 18 3596818 3596818 T A snp 2794.77 1/1 99 92 0 92 1.0 ncRNA_exonic rs76573302 DLGAP1-AS1 AU 0.113019 0.1528 0.082988 0.1224 0.1680 Uncertain 18_3597155_TCTG->- 18 3597155 3597158 TCTG - indel 6863.73 1/1 99 112 0 112 1.0 ncRNA_exonic rs35111168 DLGAP1-AS1 AU 0.113419 0.1538 0.111590 0.1225 0.1674 Uncertain 18_3729175_C->T 18 3729175 3729175 C T snp 1182.77 0/1 99 118 67 51 0.43 exonic rs3745051 DLGAP1 AU synonymous SNV NM_004746 exon7 c.G1551A p.P517P 0.254593 0.3581 0.173870 0.1679 0.3382 Uncertain 18_5196981_G->A 18 5196981 5196981 G A snp 700.77 0/1 99 64 35 29 0.45 intronic rs292285 C18orf42 AU NM_001145194 exon2 c.51476-55G>A 0.459065 0.5506 0.493868 Uncertain 18_5196992_T->C 18 5196992 5196992 T C snp 1839.77 1/1 99 70 0 70 1.0 intronic rs292286 C18orf42 AU NM_001145194 exon2 c.51476-44T>C 0.96226 0.998 0.942838 0.9414 0.9984 Uncertain 18_5232843_C->T 18 5232843 5232843 C T snp 3823.77 1/1 99 150 0 150 1.0 intergenic rs9963665 C18orf42 AU 0.679513 0.755 0.6357 0.7937 Uncertain 18_5238208_C->T 18 5238208 5238208 C T snp 3056.77 1/1 99 90 1 89 0.99 ncRNA_exonic rs1061666 LINC00667 AU 0.691494 0.7569 0.5996 0.7761 Uncertain 18_5238442_G->C 18 5238442 5238442 G C snp 3328.77 1/1 99 113 1 112 0.99 ncRNA_exonic rs11795 LINC00667 AU 0.580671 0.7034 Uncertain 18_5238499_C->T 18 5238499 5238499 C T snp 774.79 1/1 23 23 1 22 0.96 ncRNA_exonic rs12163 LINC00667 AU 0.268171 0.6935 Uncertain 18_5292030_A->G 18 5292030 5292030 A G snp 4843.77 1/1 99 176 0 176 1.0 exonic rs620652 ZBTB14 AU synonymous SNV NM_003409 exon3 c.T177C p.T59T 0.84345 0.8254 0.860910 0.8255 0.8185 Uncertain 18_5407839_C->T 18 5407839 5407839 C T snp 1937.77 1/1 99 67 0 67 1.0 intronic rs2874686 EPB41L3 AU NM_001281533 exon8 c.14264+104C>T 0.671126 0.9177 Uncertain 18_5407911_A->G 18 5407911 5407911 A G snp 547.77 1/1 42 15 0 15 1.0 intronic rs2322093 EPB41L3 AU NM_001281533 exon8 c.14264+176A>G 0.901757 0.9484 Uncertain 18_5410574_A->G 18 5410574 5410574 A G snp 4504.77 1/1 99 166 1 165 0.99 exonic rs3817466 EPB41L3 AU synonymous SNV NM_001281533 exon13 c.T1605C p.T535T 0.711661 0.9177 0.8531 0.9181 Uncertain 18_5420021_A->G 18 5420021 5420021 A G snp 467.77 0/1 39 16 2 14 0.88 intronic rs3752061 EPB41L3 AU NM_001281535 exon9 c.25249+91A>G 0.582069 0.5685 Uncertain 18_5423631_A->T 18 5423631 5423631 A T snp 167.77 0/1 99 22 16 6 0.27 intronic rs12607210 EPB41L3 AU NM_001281535 exon10 c.28871+79A>T 0.526158 0.5645 Uncertain 18_5433570_A->C 18 5433570 5433570 A C snp 1714.77 0/1 99 154 77 77 0.5 intronic rs2272130 EPB41L3 AU NM_001281535 exon13 c.38874+15A>C 0.514976 0.5685 0.578348 0.6690 0.5509 Uncertain 18_5433722_C->T 18 5433722 5433722 C T snp 683.77 1/1 51 21 0 21 1.0 intronic rs3931700 EPB41L3 AU NM_001281535 exon13 c.38874+167C>T 0.999601 1 Uncertain 18_5437961_-->C 18 5437961 5437961 - C indel 5521.73 1/1 99 132 0 132 1.0 intronic rs397716774 EPB41L3 AU NM_001281535 exon15 c.43352-72insC 0.749002 0.8224 Uncertain 18_5577258_T->C 18 5577258 5577258 T C snp 1358.77 1/1 99 45 0 45 1.0 intronic rs11876037 EPB41L3 AU NM_012307 exon23 c.149628+32949T>C 0.623003 0.5913 Uncertain 18_5630531_G->A 18 5630531 5630531 G A snp 1387.77 1/1 99 55 0 55 1.0 intergenic rs4083186 EPB41L3 AU 0.911142 0.9722 0.892222 0.8831 0.9707 0 D 0.0 P -1.054 T Uncertain 18_5630689_G->C 18 5630689 5630689 G C snp 56.74 1/1 6 2 0 2 1.0 intergenic rs9952048 EPB41L3 AU 0.440695 0.625 0.4211 0.6947 Uncertain 18_5956145_T->C 18 5956145 5956145 T C snp 32.77 0/1 61 7 5 2 0.29 UTR3 rs3737352 L3MBTL4 AU 0.384784 0.4742 Uncertain 18_5956238_C->T 18 5956238 5956238 C T snp 443.77 0/1 99 34 16 18 0.53 exonic rs3737353 L3MBTL4 AU nonsynonymous SNV NM_173464 exon20 c.G1853A p.G618D 0.384784 0.4742 0.356044 0.3812 0.4929 0.17 T 0.0 P -0.922 T 0.053 T 0.043 T Pathogenic 18_5956425_C->T 18 5956425 5956425 C T snp 1306.77 0/1 99 118 61 57 0.48 intronic rs3737354 L3MBTL4 AU NM_173464 exon1 c.168+39C>T 0.386581 0.4742 0.355627 0.3835 0.4939 Uncertain 18_5956470_T->C 18 5956470 5956470 T C snp 953.77 0/1 99 79 37 42 0.53 intronic rs3737355 L3MBTL4 AU NM_173464 exon1 c.168+84T>C 0.0880591 0.1319 Uncertain 18_5956483_G->C 18 5956483 5956483 G C snp 849.77 0/1 99 69 35 34 0.49 intronic rs3737357 L3MBTL4 AU NM_173464 exon1 c.168+97G>C 0.384784 0.4742 Uncertain 18_5956503_CT->- 18 5956503 5956504 CT - indel 1073.73 0/1 99 52 25 27 0.52 intronic rs34046077 L3MBTL4 AU NM_173464 exon1 c.168+117_168+118delCT 0.384784 0.4742 Uncertain 18_5960165_G->A 18 5960165 5960165 G A snp 1965.77 1/1 99 84 0 84 1.0 intronic rs505559 L3MBTL4 AU NM_173464 exon2 c.3937+10G>A 0.76278 0.9266 0.610408 0.5825 0.9193 Uncertain 18_6046717_T->C 18 6046717 6046717 T C snp 799.77 0/1 99 69 30 39 0.57 intronic rs7234770 L3MBTL4 AU NM_173464 exon4 c.90508-9T>C 0.578474 0.6438 0.509562 0.4810 0.5923 Uncertain 18_6264213_A->G 18 6264213 6264213 A G snp 34.77 0/1 63 6 4 2 0.33 intronic rs80294394 L3MBTL4 AU NM_173464 exon16 c.307819+176A>G 0.0081869 0.0238 Uncertain 18_6302059_C->T 18 6302059 6302059 C T snp 2473.77 0/1 99 232 119 113 0.49 intronic rs7241792 L3MBTL4 AU NM_173464 exon17 c.345738+103C>T 0.195887 0.2173 Uncertain 18_6302077_C->T 18 6302077 6302077 C T snp 1845.77 0/1 99 197 108 89 0.45 intronic rs7241798 L3MBTL4 AU NM_173464 exon17 c.345738+121C>T 0.195687 0.2173 Uncertain 18_6511473_C->T 18 6511473 6511473 C T snp 1451.77 1/1 99 45 0 45 1.0 ncRNA_exonic rs4798453 LINC01387 AU 0.957468 0.8988 0.9635 0.8636 Uncertain 18_6511669_T->G 18 6511669 6511669 T G snp 2792.77 1/1 99 100 0 100 1.0 ncRNA_intronic rs4798454 LINC01387 AU 0.969249 0.8968 Uncertain 18_6511759_-->A 18 6511759 6511759 - A indel 604.73 0/1 99 25 9 16 0.64 ncRNA_intronic rs58594073 LINC01387 AU 0.334665 0.4117 Uncertain 18_6513805_T->C 18 6513805 6513805 T C snp 624.77 0/1 99 53 26 27 0.51 ncRNA_intronic rs61455548 LINC01387 AU 0.0892572 0.0466 Uncertain 18_6513872_G->A 18 6513872 6513872 G A snp 181.77 0/1 99 13 7 6 0.46 ncRNA_intronic rs73379446 LINC01387 AU 0.189497 0.3204 Uncertain 18_6576274_T->C 18 6576274 6576274 T C snp 170.9 1/1 15 5 0 5 1.0 ncRNA_intronic rs8098828 LINC01387 AU 0.535942 0.5952 Uncertain 18_6851058_C->G 18 6851058 6851058 C G snp 3526.77 1/1 99 134 0 134 1.0 exonic rs6506448 ARHGAP28 AU nonsynonymous SNV NM_001010000 exon3 c.C92G p.T31S 0.08127 0.2698 0.004690 0.0420 0.2739 0.74 T 0.0 P -0.971 T 0.007 T 0.006 T Pathogenic 18_6851267_G->A 18 6851267 6851267 G A snp 296.78 1/1 24 8 0 8 1.0 intronic rs8087719 ARHGAP28 AU NM_001010000 exon3 c.13778+142G>A 0.761781 0.8611 Uncertain 18_6870524_T->C 18 6870524 6870524 T C snp 597.77 1/1 45 17 0 17 1.0 intronic rs62082833 ARHGAP28 AU NM_001010000 exon6 c.33241-64T>C 0.236621 0.2113 Uncertain 18_6873354_G->A 18 6873354 6873354 G A snp 337.77 0/1 99 39 25 14 0.36 intronic rs2282522 ARHGAP28 AU NM_001010000 exon7 c.36060-53G>A 0.297923 0.249 Uncertain 18_6889973_A->G 18 6889973 6889973 A G snp 6568.77 1/1 99 250 0 250 1.0 exonic rs4239328 ARHGAP28 AU synonymous SNV NM_001010000 exon12 c.A1146G p.P382P 0.560903 0.6052 0.570660 0.5705 0.6385 Uncertain 18_6890434_A->G 18 6890434 6890434 A G snp 4612.77 1/1 99 181 1 180 0.99 exonic rs1116757 ARHGAP28 AU synonymous SNV NM_001010000 exon13 c.A1263G p.P421P 0.563099 0.6052 0.566046 0.5692 0.6437 Uncertain 18_6890591_C->T 18 6890591 6890591 C T snp 1314.77 1/1 96 40 0 40 1.0 intronic rs1116756 ARHGAP28 AU NM_001010000 exon13 c.53195+49C>T 0.562101 0.6052 0.565615 0.5671 0.6460 Uncertain 18_6896450_C->T 18 6896450 6896450 C T snp 1497.77 1/1 99 49 0 49 1.0 intronic rs11081282 ARHGAP28 AU NM_001010000 exon15 c.59153-50C>T 0.569660 0.5629 0.6379 Uncertain 18_6898415_C->T 18 6898415 6898415 C T snp 1088.77 1/1 78 36 0 36 1.0 intronic rs12185460 ARHGAP28 AU NM_001010000 exon15 c.59278+1790C>T 0.528355 0.6052 0.532985 0.5607 0.6447 Uncertain 18_6908726_A->G 18 6908726 6908726 A G snp 54.74 1/1 6 2 0 2 1.0 intronic rs12454415 ARHGAP28 AU NM_001010000 exon16 c.71611-232A>G 0.442093 0.3016 Uncertain 18_6912004_G->A 18 6912004 6912004 G A snp 5799.77 1/1 99 232 2 230 0.99 intronic rs1346931 ARHGAP28 AU NM_001010000 exon17 c.74711-54G>A 0.728834 0.626 Uncertain 18_6912143_A->C 18 6912143 6912143 A C snp 3044.77 1/1 99 111 0 111 1.0 exonic rs1056408 ARHGAP28 AU nonsynonymous SNV NM_001010000 exon17 c.A1703C p.Q568P 0.729233 0.627 0.835922 0.7949 0.6784 1 T 0.576 P -0.999 T 0.0 T 0.0 T Pathogenic 18_6927348_G->A 18 6927348 6927348 G A snp 1130.77 0/1 99 100 52 48 0.48 ncRNA_exonic rs2282629 LINC00668 AU 0.240415 0.3194 Uncertain 18_6927352_T->C 18 6927352 6927352 T C snp 1174.77 0/1 99 101 53 48 0.48 ncRNA_exonic rs2282630 LINC00668 AU 0.244209 0.3194 Uncertain 18_6927353_G->A 18 6927353 6927353 G A snp 1175.77 0/1 99 104 54 50 0.48 ncRNA_exonic rs2282631 LINC00668 AU 0.240415 0.3194 Uncertain 18_6947013_C->T 18 6947013 6947013 C T snp 111.77 0/1 99 8 4 4 0.5 intronic rs489023 LAMA1 AR NM_005559 exon3 c.5084-148C>T 0.832268 0.8562 Uncertain 18_6956415_T->C 18 6956415 6956415 T C snp 829.77 0/1 99 61 33 28 0.46 ncRNA_exonic rs16950875 LOC101927188 AU 0.184704 0.1498 0.1394 0.2881 Uncertain 18_6956505_CAGCTCCAGCTC->- 18 6956505 6956516 CAGCTCCAGCTC - indel 8021.73 0/1 99 161 88 73 0.45 ncRNA_exonic rs11270496 LOC101927188 AU 0.235224 0.1716 0.2218 0.1766 Uncertain 18_6974840_G->A 18 6974840 6974840 G A snp 1936.77 0/1 99 183 102 81 0.44 intronic rs147153419 LAMA1 AR NM_005559 exon18 c.32824-61G>A 0.00139776 0.0069 Uncertain 18_6977719_A->G 18 6977719 6977719 A G snp 722.77 0/1 99 70 37 33 0.47 intronic rs10164200 LAMA1 AR NM_005559 exon20 c.35648-6A>G 0.106629 0.0883 0.124558 0.1179 0.0877 Uncertain 18_6977844_A->G 18 6977844 6977844 A G snp 1497.77 0/1 99 109 46 63 0.58 exonic rs671871 LAMA1 AR nonsynonymous SNV NM_005559 exon44 c.T6227C p.I2076T 0.273962 0.0893 0.301630 0.1947 0.0883 0.53 T 0.000 P -0.943 T 0.0 T 0.0 T Pathogenic 18_6977966_T->C 18 6977966 6977966 T C snp 560.77 0/1 99 47 24 23 0.49 intronic rs672721 LAMA1 AR NM_005559 exon20 c.35803+86T>C 0.283946 0.0903 Uncertain 18_6980457_T->C 18 6980457 6980457 T C snp 1484.77 1/1 99 55 0 55 1.0 intronic rs693360 LAMA1 AR NM_005559 exon22 c.38442-62T>C 0.848243 0.9891 Uncertain 18_6980487_C->T 18 6980487 6980487 C T snp 518.77 0/1 99 69 42 27 0.39 intronic rs74938552 LAMA1 AR NM_005559 exon22 c.38442-32C>T 0.145367 0.1647 0.143417 0.1289 0.1562 Uncertain 18_6980523_T->C 18 6980523 6980523 T C snp 810.77 0/1 99 66 30 36 0.55 exonic rs607230 LAMA1 AR nonsynonymous SNV NM_005559 exon42 c.A6004G p.K2002E 0.69369 0.8244 0.660052 0.7278 0.8308 1 T 0.000 P -0.994 T 0.0 T 0.0 T Pathogenic 18_6982443_C->T 18 6982443 6982443 C T snp 646.77 0/1 99 62 32 30 0.48 intronic rs538815 LAMA1 AR NM_005559 exon23 c.40418-52C>T 0.699081 0.8591 0.660753 Uncertain 18_6985506_T->C 18 6985506 6985506 T C snp 4208.77 1/1 99 156 0 156 1.0 intronic rs616722 LAMA1 AR NM_005559 exon26 c.43448-19T>C 0.851438 0.9891 0.811010 0.8666 0.9868 Uncertain 18_6985507_G->A 18 6985507 6985507 G A snp 1975.77 0/1 99 156 68 88 0.56 intronic rs523711 LAMA1 AR NM_005559 exon26 c.43448-18G>A 0.552316 0.6687 0.413271 0.5152 0.6921 Uncertain 18_6985631_C->T 18 6985631 6985631 C T snp 1313.77 0/1 99 100 47 53 0.53 exonic rs617206 LAMA1 AR synonymous SNV NM_005559 exon38 c.G5391A p.L1797L 0.552117 0.6687 0.451099 0.5151 0.6903 Uncertain 18_6985655_C->T 18 6985655 6985655 C T snp 2133.77 1/1 99 70 0 70 1.0 intronic rs617573 LAMA1 AR NM_005559 exon26 c.43565+13C>T 0.851637 0.9891 0.819237 0.8667 0.9865 Uncertain 18_6985729_G->C 18 6985729 6985729 G C snp 158.77 0/1 99 8 3 5 0.63 intronic rs617659 LAMA1 AR NM_005559 exon26 c.43565+87G>C 0.570288 0.6706 Uncertain 18_6986050_C->A 18 6986050 6986050 C A snp 71.77 0/1 99 14 9 5 0.36 intronic rs59480422 LAMA1 AR NM_005559 exon27 c.44058-85C>A 0.381789 0.6677 Uncertain 18_6986227_G->A 18 6986227 6986227 G A snp 1193.77 0/1 99 94 48 46 0.49 exonic rs12607841 LAMA1 AR nonsynonymous SNV NM_005559 exon37 c.C5288T p.A1763V 0.141573 0.128 0.152545 0.1360 0.1136 0.05 T 0.0 P -0.967 T 0.021 T 0.008 T Pathogenic 18_6992509_C->T 18 6992509 6992509 C T snp 1264.77 0/1 99 130 74 56 0.43 intronic rs7243349 LAMA1 AR NM_005559 exon28 c.50482-50C>T 0.490016 0.6875 0.357681 0.4441 0.7127 Uncertain 18_6995512_G->A 18 6995512 6995512 G A snp 686.77 1/1 51 23 0 23 1.0 intronic rs4798524 LAMA1 AR NM_005559 exon30 c.53368+67G>A 0.482029 0.7976 Uncertain 18_6999628_T->C 18 6999628 6999628 T C snp 1088.77 0/1 99 88 37 51 0.58 exonic rs625106 LAMA1 AR synonymous SNV NM_005559 exon32 c.A4479G p.S1493S 0.466254 0.2708 0.522144 0.4507 0.3193 Uncertain 18_6999694_T->C 18 6999694 6999694 T C snp 378.77 0/1 99 28 13 15 0.54 intronic rs693754 LAMA1 AR NM_005559 exon32 c.57560+57T>C 0.446086 0.2738 Uncertain 18_7008583_A->C 18 7008583 7008583 A C snp 1560.77 0/1 99 150 84 66 0.44 exonic rs73938538 LAMA1 AR synonymous SNV NM_005559 exon28 c.T4026G p.V1342V 0.171725 0.1091 0.156159 0.1249 0.1028 ID=CM151643;DIS=Alzheimer disease, in Amish, association with;TAG=DP;PUB=25668194 DP Uncertain 18_7011413_G->A 18 7011413 7011413 G A snp 1313.77 0/1 99 136 70 66 0.49 exonic rs619106 LAMA1 AR synonymous SNV NM_005559 exon25 c.C3573T p.T1191T 0.364617 0.12 0.411489 0.3366 0.1252 Uncertain 18_7011490_A->G 18 7011490 7011490 A G snp 1107.77 0/1 99 108 53 55 0.51 intronic rs61695598 LAMA1 AR NM_005559 exon39 c.69401+12A>G 0.096246 0.1052 0.073385 0.1028 0.1106 Uncertain 18_7011959_T->A 18 7011959 7011959 T A snp 351.77 0/1 99 26 14 12 0.46 intronic rs496865 LAMA1 AR NM_005559 exon40 c.69916-34T>A 0.320487 0.1181 0.351524 0.3006 0.1306 Uncertain 18_7035915_A->C 18 7035915 7035915 A C snp 810.77 0/1 99 72 39 33 0.46 intronic rs677136 LAMA1 AR NM_005559 exon51 c.93908-70A>C 0.396166 0.2847 Uncertain 18_7037866_T->C 18 7037866 7037866 T C snp 392.77 1/1 30 12 0 12 1.0 intronic rs647595 LAMA1 AR NM_005559 exon52 c.95673+116T>C 0.989417 1 Uncertain 18_7040277_A->G 18 7040277 7040277 A G snp 1512.77 0/1 99 121 58 63 0.52 intronic rs4798530 LAMA1 AR NM_005559 exon54 c.98158+42A>G 0.0678914 0.2123 0.025373 0.0493 0.2068 Uncertain 18_7042402_A->G 18 7042402 7042402 A G snp 37.77 0/1 66 6 4 2 0.33 intronic rs648161 LAMA1 AR NM_005559 exon55 c.100172+153A>G 0.558307 0.4752 Uncertain 18_7080135_A->C 18 7080135 7080135 A C snp 413.77 0/1 99 23 9 14 0.61 intronic rs16951199 LAMA1 AR NM_005559 exon61 c.138009+49A>C 0.0720847 0.1429 0.057358 0.0711 0.1464 Uncertain 18_7117623_G->C 18 7117623 7117623 G C snp 1216.77 1/1 87 46 0 46 1.0 intronic rs334406 LAMA1 AR NM_005559 exon63 c.175581-35G>C 0.516374 0.6002 0.392175 0.5571 0.5951 Uncertain 18_7117782_A->G 18 7117782 7117782 A G snp 1222.77 1/1 87 45 0 45 1.0 UTR5 rs334407 LAMA1 AR 0.518171 0.5982 Uncertain 18_7567803_C->G 18 7567803 7567803 C G snp 2234.77 1/1 99 85 0 85 1.0 UTR5 rs67536179 PTPRM AU 0.52496 0.7153 0.360428 0.3367 0.7296 Uncertain 18_7774104_T->C 18 7774104 7774104 T C snp 1812.77 1/1 99 59 0 59 1.0 intronic rs875530 PTPRM AU NM_002845 exon2 c.206330-42T>C 0.532348 0.8472 0.438182 0.5461 0.8487 Uncertain 18_7955525_A->G 18 7955525 7955525 A G snp 117.77 0/1 99 7 3 4 0.57 intronic rs3786153 PTPRM AU NM_002845 exon7 c.387596+113A>G 0.437899 0.2063 Uncertain 18_8143570_G->T 18 8143570 8143570 G T snp 843.77 0/1 99 48 16 32 0.67 intronic rs142466030 PTPRM AU NM_002845 exon14 c.575828-74G>T 0.000798722 0.004 Uncertain 18_8343333_G->A 18 8343333 8343333 G A snp 207.77 0/1 99 14 6 8 0.57 intronic rs2246146 PTPRM AU NM_002845 exon21 c.775604-87G>A 0.498203 0.5496 Uncertain 18_8379046_A->G 18 8379046 8379046 A G snp 264.77 0/1 99 17 8 9 0.53 intronic rs3826631 PTPRM AU NM_002845 exon26 c.811348-118A>G 0.689896 0.7401 Uncertain 18_8379048_G->C 18 8379048 8379048 G C snp 263.77 0/1 99 18 9 9 0.5 intronic rs9789240 PTPRM AU NM_002845 exon26 c.811348-116G>C 0.394968 0.504 Uncertain 18_8379095_G->C 18 8379095 8379095 G C snp 707.77 0/1 99 53 27 26 0.49 intronic rs3819095 PTPRM AU NM_002845 exon26 c.811348-69G>C 0.688898 0.7401 Uncertain 18_8380473_T->A 18 8380473 8380473 T A snp 1198.77 0/1 99 97 52 45 0.46 intronic rs657374 PTPRM AU NM_002845 exon27 c.812609+48T>A 0.703874 0.7401 0.697294 0.6988 0.7351 Uncertain 18_8387058_T->G 18 8387058 8387058 T G snp 1655.77 0/1 99 146 73 73 0.5 intronic rs664201 PTPRM AU NM_002845 exon29 c.819253-11T>G 0.728035 0.8145 0.710057 0.7403 0.8292 Uncertain 18_8387065_C->T 18 8387065 8387065 C T snp 1651.77 0/1 99 152 76 76 0.5 splicing rs594742 PTPRM AU NM_002845 exon29 c.819253-4C>T 0.792332 0.8145 0.776257 0.7569 0.8289 Pathogenic 18_8387195_G->A 18 8387195 8387195 G A snp 587.77 0/1 99 72 46 26 0.36 exonic rs593978 PTPRM AU synonymous SNV NM_002845 exon29 c.G4131A p.E1377E 0.634385 0.7361 0.630863 0.6840 0.7319 Uncertain 18_8387219_G->C 18 8387219 8387219 G C snp 202.77 0/1 99 40 29 11 0.28 exonic rs593950 PTPRM AU synonymous SNV NM_002845 exon29 c.G4155C p.T1385T 0.737819 0.7917 0.728510 0.7416 0.8010 Uncertain 18_8609437_G->C 18 8609437 8609437 G C snp 46.77 0/1 69 6 3 3 0.5 upstream rs576909446 RAB12 AU 0.000199681 0 . Uncertain 18_8705679_C->T 18 8705679 8705679 C T snp 205.77 0/1 99 40 28 12 0.3 ncRNA_intronic rs8089706 GACAT2 AU 0.426518 0.3274 0.5 . Uncertain 18_8705701_G->A 18 8705701 8705701 G A snp 281.77 0/1 99 46 31 15 0.33 ncRNA_intronic rs555768720 GACAT2 AU 0.000199681 0.001 Uncertain 18_8705871_T->G 18 8705871 8705871 T G snp 183.77 0/1 99 21 12 9 0.43 ncRNA_intronic rs142882599 GACAT2 AU 0.421725 0.3244 0 . Uncertain 18_8706143_C->T 18 8706143 8706143 C T snp 49.77 0/1 78 28 22 6 0.21 ncRNA_intronic rs11661625 GACAT2 AU 0.326278 0.3244 0 . Uncertain 18_8706186_C->T 18 8706186 8706186 C T snp 309.77 0/1 99 44 31 13 0.3 ncRNA_intronic rs11661629 GACAT2 AU 0.235423 0.2123 0 . Uncertain 18_8783835_T->C 18 8783835 8783835 T C snp 1844.77 0/1 99 151 74 77 0.51 exonic rs35739383 MTCL1 AU nonsynonymous SNV NM_015210 exon6 c.T725C p.M242T 0.411741 0.5397 0.456435 0.5187 0.5365 0.13 T 1.0 P -0.967 T 0.339 T 0.104 T Pathogenic 18_8784370_A->G 18 8784370 8784370 A G snp 5648.77 1/1 99 186 0 186 1.0 exonic rs918272 MTCL1 AU synonymous SNV NM_015210 exon6 c.A1260G p.E420E 0.915935 0.9623 0.939086 0.9574 0.9564 Uncertain 18_8784574_G->A 18 8784574 8784574 G A snp 1915.77 0/1 99 184 105 79 0.43 exonic rs189259523 MTCL1 AU synonymous SNV NM_015210 exon6 c.G1464A p.A488A 0.00239617 0.0109 0.0011 0.0140 Uncertain 18_8784723_A->G 18 8784723 8784723 A G snp 3036.77 0/1 99 250 128 122 0.49 exonic rs3744979 MTCL1 AU nonsynonymous SNV NM_015210 exon6 c.A1613G p.D538G 0.167732 0.2907 0.159311 0.1481 0.2982 0.67 T 1.0 P -1.026 T 0.947 T 0.62 D Pathogenic 18_8786117_-->CCA 18 8786117 8786117 - CCA indel 911.73 1/1 44 44 10 34 0.77 intronic rs555665585 MTCL1 AU NM_015210 exon7 c.67641+28insCCA 0.2889 0.2637 Uncertain 18_8793236_T->C 18 8793236 8793236 T C snp 3087.77 1/1 99 114 0 114 1.0 intronic rs556991 MTCL1 AU NM_015210 exon8 c.74670+118T>C 0.939497 0.9187 Uncertain 18_8796509_C->T 18 8796509 8796509 C T snp 493.77 0/1 99 31 11 20 0.65 intronic rs77711321 MTCL1 AU NM_015210 exon9 c.78012+49C>T 0.0439297 0.1042 0.009995 0.0210 0.0987 Uncertain 18_8797912_G->C 18 8797912 8797912 G C snp 188.77 0/1 99 12 6 6 0.5 intronic rs574163 MTCL1 AU NM_015210 exon10 c.79646-182G>C 0.783746 0.6518 Uncertain 18_8806815_A->G 18 8806815 8806815 A G snp 789.77 0/1 99 62 28 34 0.55 intronic rs11877424 MTCL1 AU NM_015210 exon11 c.88442-75A>G 0.119609 0.1062 Uncertain 18_8809273_C->T 18 8809273 8809273 C T snp 41.77 0/1 66 4 2 2 0.5 intronic rs633286 MTCL1 AU NM_015210 exon11 c.88610+2215C>T 0.325479 0.3631 Uncertain 18_8809419_CA->- 18 8809419 8809420 CA - indel 2128.73 0/1 99 110 55 55 0.5 intronic rs10583994 MTCL1 AU NM_015210 exon11 c.88610+2361_88610+2362delCA 0.323482 0.3631 0.3403 0.4409 Uncertain 18_8809445_G->C 18 8809445 8809445 G C snp 3408.77 1/1 99 131 3 128 0.98 intronic rs632423 MTCL1 AU NM_015210 exon11 c.88610+2387G>C 0.502596 0.5675 0.4523 0.6394 0.000 P Uncertain 18_8809568_G->A 18 8809568 8809568 G A snp 844.77 0/1 99 71 35 36 0.51 intronic rs690079 MTCL1 AU NM_015210 exon11 c.88610+2510G>A 0.347444 0.5456 0.4255 0.5442 Uncertain 18_8809664_G->A 18 8809664 8809664 G A snp 37.77 0/1 66 6 4 2 0.33 intronic rs115613764 MTCL1 AU NM_015210 exon11 c.88610+2606G>A 0.0425319 0.0982 Uncertain 18_8813046_A->C 18 8813046 8813046 A C snp 1984.77 0/1 99 155 67 88 0.57 exonic rs11874468 MTCL1 AU nonsynonymous SNV NM_015210 exon12 c.A2674C p.K892Q 0.0421326 0.0952 0.007151 0.0203 0.0932 0.13 T 1 N -1.097 T 0.651 T 0.216 P Pathogenic 18_8821301_T->C 18 8821301 8821301 T C snp 399.77 0/1 99 27 13 14 0.52 intronic rs656602 MTCL1 AU NM_015210 exon14 c.103016-163T>C 0.508387 0.3075 Uncertain 18_8821556_G->T 18 8821556 8821556 G T snp 154.77 0/1 99 14 7 7 0.5 intronic rs629142 MTCL1 AU NM_015210 exon14 c.103048+60G>T 0.393171 0.249 Uncertain 18_8824590_C->A 18 8824590 8824590 C A snp 330.77 0/1 99 29 17 12 0.41 intronic rs610915 MTCL1 AU NM_015210 exon15 c.106248-106C>A 0.369209 0.2192 Uncertain 18_8826083_G->C 18 8826083 8826083 G C snp 4453.77 1/1 99 149 0 149 1.0 exonic rs3744977 MTCL1 AU synonymous SNV NM_015210 exon15 c.G4575C p.T1525T 0.892173 0.8899 0.920871 0.9439 0.8962 Uncertain 18_8828952_C->T 18 8828952 8828952 C T snp 1078.77 0/1 99 91 43 48 0.53 UTR3 rs2242273 MTCL1 AU 0.107628 0.1062 0.115024 0.1161 0.1171 Uncertain 18_8829035_G->A 18 8829035 8829035 G A snp 261.77 0/1 99 19 9 10 0.53 intronic rs2170297 MTCL1 AU NM_015210 exon16 c.110514+73G>A 0.0860623 0.1042 Uncertain 18_9104283_G->A 18 9104283 9104283 G A snp 792.77 0/1 99 79 46 33 0.42 intronic rs78247459 NDUFV2 AR,XD,AO NM_021074 exon1 c.54+1488G>A 0.17492 0.2589 Uncertain 18_9105108_C->T 18 9105108 9105108 C T snp 453.77 0/1 99 34 16 18 0.53 intronic rs1396740 NDUFV2 AR,XD,AO NM_021074 exon1 c.54+2313C>T 0.742812 0.6915 Uncertain 18_9117867_T->C 18 9117867 9117867 T C snp 1130.77 1/1 81 44 0 44 1.0 exonic rs906807 NDUFV2 AR,XD,AO nonsynonymous SNV NM_021074 exon2 c.T86C p.V29A 0.778954 0.7063 0.799538 0.8001 0.7098 1 T 0.000 P -0.966 T 0.0 T 0.0 T CLINSIG=unknown|probable-non-pathogenic|non-pathogenic;CLNDBN=Parkinson_disease\x2c_mitochondrial|not_specified|not_provided;CLNREVSTAT=no_assertion_criteria_provided|no_assertion_criteria_provided|criteria_provided\x2c_single_submitter;CLNACC=RCV000009621.1|RCV000117718.2|RCV000127170.1;CLNDSDB=GeneReviews:MedGen:OMIM|MedGen|MedGen;CLNDSDBID=NBK1223:C1838867:556500|CN169374|CN221809 ID=CM983407;DIS=Parkinson disease, susceptibility to, association;TAG=DP;PUB=9570948 DP Pathogenic 18_9182331_-->ACTTCAGGTAGGT 18 9182331 9182331 - ACTTCAGGTAGGT indel 858.8 1/1 18 6 0 6 1.0 intronic rs59801599 ANKRD12 AU Uncertain 18_9182332_C->T 18 9182332 9182332 C T snp 182.9 1/1 15 6 0 6 1.0 intronic rs112685892 ANKRD12 AU Uncertain 18_9208972_A->G 18 9208972 9208972 A G snp 119.8 0/1 21 5 1 4 0.8 intronic rs34742526 ANKRD12 AU NM_001204056 exon4 c.26371+171A>G 0.283546 0.2609 Uncertain 18_9255982_A->G 18 9255982 9255982 A G snp 1223.77 1/1 87 46 1 45 0.98 exonic rs4798791 ANKRD12 AU nonsynonymous SNV NM_001083625 exon8 c.A2648G p.K883R 0.613419 0.6607 0.545280 0.6565 0.6840 0.08 T 1.000 P -0.999 T 0.859 T 0.391 P Pathogenic 18_9512985_G->A 18 9512985 9512985 G A snp 1438.77 0/1 99 139 70 69 0.5 splicing rs1813100 RALBP1 AU 0.480831 0.5407 Pathogenic 18_9522606_G->A 18 9522606 9522606 G A snp 2083.77 0/1 99 162 80 82 0.51 intronic rs329007 RALBP1 AU NM_006788 exon4 c.9464+99G>A 0.723043 0.5913 Uncertain 18_9522666_A->G 18 9522666 9522666 A G snp 522.77 0/1 99 36 19 17 0.47 intronic rs2241943 RALBP1 AU NM_006788 exon4 c.9464+159A>G 0.467252 0.5218 Uncertain 18_9549876_A->G 18 9549876 9549876 A G snp 101.28 1/1 9 4 0 4 1.0 intronic rs9965762 PPP4R1 AU NM_005134 exon3 c.2263-173A>G 0.266973 0.5159 Uncertain 18_9553179_A->G 18 9553179 9553179 A G snp 146.77 0/1 99 13 8 5 0.38 intronic rs403093 PPP4R1 AU NM_005134 exon5 c.5533-140A>G 0.541334 0.5694 Uncertain 18_9562042_C->T 18 9562042 9562042 C T snp 2051.77 0/1 99 134 48 86 0.64 exonic rs2306134 PPP4R1 AU nonsynonymous SNV NM_001042388 exon13 c.G1778A p.S593N 0.277756 0.5099 0.168201 0.2206 0.4842 0.0 P -0.954 T 0.0 T 0.001 T Pathogenic 18_9577352_C->T 18 9577352 9577352 C T snp 133.03 1/1 12 4 0 4 1.0 intronic rs329000 PPP4R1 AU NM_005134 exon11 c.29403+163C>T 0.9998 1 Uncertain 18_9583428_G->A 18 9583428 9583428 G A snp 224.84 1/1 18 6 0 6 1.0 intronic rs329035 PPP4R1 AU NM_005134 exon12 c.35487+155G>A 0.741613 0.6448 Uncertain 18_9594877_G->A 18 9594877 9594877 G A snp 48.74 1/1 6 2 0 2 1.0 intronic rs1275666 PPP4R1 AU NM_005134 exon18 c.47229-138G>A 0.741813 0.6448 Uncertain 18_9614096_C->G 18 9614096 9614096 C G snp 34.77 0/1 63 10 7 3 0.3 intronic rs71360847 PPP4R1 AU NM_005134 exon19 c.66437-127C>G 0.196685 0.0694 Uncertain 18_9708279_A->G 18 9708279 9708279 A G snp 168.77 0/1 99 17 9 8 0.47 UTR5 rs28364845 RAB31 AU 0.0978435 0.2966 Uncertain 18_9708582_C->T 18 9708582 9708582 C T snp 785.77 1/1 60 25 2 23 0.92 intronic rs62078920 RAB31 AU NM_006868 exon1 c.39+141C>T 0.411941 0.4087 Uncertain 18_9775372_A->G 18 9775372 9775372 A G snp 2027.77 1/1 99 70 0 70 1.0 intronic rs6506697 RAB31 AU NM_006868 exon2 c.66952+18A>G 0.696885 0.6647 0.683484 0.6628 0.6698 Uncertain 18_9775411_A->G 18 9775411 9775411 A G snp 1164.77 1/1 84 38 0 38 1.0 intronic rs6506698 RAB31 AU NM_006868 exon2 c.66952+57A>G 0.70627 0.6657 0.683530 Uncertain 18_9814187_C->T 18 9814187 9814187 C T snp 1688.77 1/1 99 56 0 56 1.0 intronic rs16955689 RAB31 AU NM_006868 exon4 c.105686+99C>T 0.114417 0.3105 Uncertain 18_9815347_C->G 18 9815347 9815347 C G snp 252.8 1/1 21 7 0 7 1.0 intronic rs369779130 RAB31 AU NM_006868 exon5 c.106817+128C>G 0.140575 0.2321 Uncertain 18_9859134_-->AATATT 18 9859134 9859134 - AATATT indel 1398.73 0/1 99 35 18 17 0.49 intronic rs10695443 RAB31 AU NM_006868 exon7 c.150822-90insAATATT 0.722644 0.7579 Uncertain 18_9886567_T->G 18 9886567 9886567 T G snp 504.77 0/1 99 44 18 26 0.59 intronic rs62078799 TXNDC2 AU NM_001098529 exon2 c.414-18T>G 0.4780 0.7574 Uncertain 18_9886569_TATG->- 18 9886569 9886572 TATG - indel 1393.73 0/1 82 45 19 26 0.58 intronic rs112324257 TXNDC2 AU NM_001098529 exon2 c.414-16_414-13delTATG 0.4663 0.7411 Uncertain 18_9886572_-->T 18 9886572 9886572 - T indel 1508.73 1/1 99 46 0 46 1.0 intronic rs398100700 TXNDC2 AU NM_001098529 exon2 c.414-13insT 0.452343 0.0441 0.0574 Uncertain 18_9887394_C->T 18 9887394 9887394 C T snp 3850.77 1/1 99 154 9 145 0.94 exonic rs2240910 TXNDC2 AU synonymous SNV NM_001098529 exon2 c.C918T p.A306A 0.518371 0.8155 0.458327 0.5149 0.8298 Uncertain 18_9887497_G->A 18 9887497 9887497 G A snp 5960.77 1/1 99 248 18 230 0.93 exonic rs11081510 TXNDC2 AU nonsynonymous SNV NM_001098529 exon2 c.G1021A p.E341K 0.800319 0.999 0.717823 0.7640 0.9988 0.0 P -1.010 T 0.028 T 0.021 T Pathogenic 18_9887546_G->A 18 9887546 9887546 G A snp 5767.77 1/1 99 247 13 234 0.95 exonic rs2240906 TXNDC2 AU nonsynonymous SNV NM_001098529 exon2 c.G1070A p.G357D 0.481629 0.8155 0.407120 0.4480 0.8287 0.0 P -1.039 T 0.023 T 0.051 T Pathogenic 18_9888069_A->G 18 9888069 9888069 A G snp 1675.77 1/1 99 57 0 57 1.0 exonic rs2240905 TXNDC2 AU synonymous SNV NM_001098529 exon2 c.A1593G p.E531E 0.554712 0.8175 0.490082 0.5268 0.8309 Uncertain 18_10454456_C->G 18 10454456 10454456 C G snp 44.74 1/1 6 2 0 2 1.0 upstream rs62093479 APCDD1 AU 1 1 Uncertain 18_10454960_C->G 18 10454960 10454960 C G snp 1801.77 1/1 99 71 0 71 1.0 UTR5 rs28769876 APCDD1 AU 1 1 1 1 Uncertain 18_10455077_A->G 18 10455077 10455077 A G snp 1130.77 1/1 81 42 0 42 1.0 intronic rs28379930 APCDD1 AU NM_153000 exon1 c.58+41A>G 0.554113 0.4583 0.626145 0.5110 0.4682 Uncertain 18_10455133_C->T 18 10455133 10455133 C T snp 508.77 1/1 39 17 0 17 1.0 intronic rs28484275 APCDD1 AU NM_153000 exon1 c.58+97C>T 0.551318 0.4534 Uncertain 18_10468453_C->T 18 10468453 10468453 C T snp 1236.77 1/1 87 45 0 45 1.0 intronic rs539412 APCDD1 AU NM_153000 exon2 c.13487-12C>T 0.424121 0.6389 0.332462 0.3789 0.6521 Uncertain 18_10471521_G->A 18 10471521 10471521 G A snp 1062.77 0/1 99 98 52 46 0.47 splicing rs78536172 APCDD1 AU NM_153000 exon3 c.16548-5G>A 0.00658946 0.0179 0.001461 0.0040 0.0169 Pathogenic 18_10485357_T->C 18 10485357 10485357 T C snp 830.77 0/1 99 84 49 35 0.42 intronic rs489837 APCDD1 AU NM_153000 exon4 c.30480-101T>C 0.571685 0.6419 Uncertain 18_10485363_T->C 18 10485363 10485363 T C snp 964.77 0/1 99 92 53 39 0.42 intronic rs91958 APCDD1 AU NM_153000 exon4 c.30480-95T>C 0.5623 0.6419 Uncertain 18_10485369_G->A 18 10485369 10485369 G A snp 1180.77 0/1 99 103 58 45 0.44 intronic rs91959 APCDD1 AU NM_153000 exon4 c.30480-89G>A 0.5625 0.6419 Uncertain 18_10487918_C->T 18 10487918 10487918 C T snp 1934.77 0/1 99 151 67 84 0.56 exonic rs3185480 APCDD1 AU synonymous SNV NM_153000 exon5 c.C1428T p.L476L 0.409944 0.6181 0.352760 0.4297 0.6395 Uncertain 18_10488064_C->T 18 10488064 10488064 C T snp 228.77 0/1 99 26 14 12 0.46 UTR3 rs3811368 APCDD1 AU 0.108027 0.1954 0.082255 0.1315 0.2137 Uncertain 18_10488091_G->T 18 10488091 10488091 G T snp 109.77 0/1 99 17 11 6 0.35 UTR3 rs1045584 APCDD1 AU 0.50639 0.62 Uncertain 18_10530928_T->C 18 10530928 10530928 T C snp 139.77 0/1 99 10 3 7 0.7 intronic rs509370 NAPG AU NM_003826 exon2 c.4735+94T>C 0.615815 0.6776 Uncertain 18_10677881_A->- 18 10677881 10677881 A - indel 450.73 1/1 51 24 0 24 1.0 intronic rs556729557 PIEZO2 AD NM_022068 exon4 c.6349+9delA 0.528954 0.629 0.5852 0.6513 Uncertain 18_10677979_T->C 18 10677979 10677979 T C snp 50.74 1/1 6 2 0 2 1.0 intronic rs600419 PIEZO2 AD NM_022068 exon4 c.6349+107T>C 0.491414 0.628 Uncertain 18_10680104_C->T 18 10680104 10680104 C T snp 546.77 1/1 42 14 0 14 1.0 intronic rs1944383 PIEZO2 AD NM_022068 exon5 c.8672-91C>T 0.666534 0.6885 Uncertain 18_10680132_C->T 18 10680132 10680132 C T snp 1086.77 1/1 81 32 0 32 1.0 intronic rs688237 PIEZO2 AD NM_022068 exon5 c.8672-63C>T 0.665935 0.6885 Uncertain 18_10680142_T->A 18 10680142 10680142 T A snp 1314.77 1/1 96 41 0 41 1.0 intronic rs688222 PIEZO2 AD NM_022068 exon5 c.8672-53T>A 0.666733 0.6885 Uncertain 18_10680163_G->A 18 10680163 10680163 G A snp 1900.77 1/1 99 61 0 61 1.0 intronic rs487037 PIEZO2 AD NM_022068 exon5 c.8672-32G>A 0.67472 0.6875 0.698447 0.7796 0.6714 Uncertain 18_10681929_A->G 18 10681929 10681929 A G snp 267.8 1/1 21 7 0 7 1.0 intronic rs545618 PIEZO2 AD NM_022068 exon7 c.10577-171A>G 0.954872 0.875 Uncertain 18_10689479_C->T 18 10689479 10689479 C T snp 210.84 1/1 18 6 0 6 1.0 intronic rs7235212 PIEZO2 AD NM_022068 exon8 c.18129-173C>T 0.426318 0.4167 Uncertain 18_10691109_C->T 18 10691109 10691109 C T snp 182.9 1/1 15 6 0 6 1.0 intronic rs8091383 PIEZO2 AD NM_022068 exon9 c.19699-113C>T 0.860423 0.9792 Uncertain 18_10697627_C->T 18 10697627 10697627 C T snp 56.74 1/1 6 2 0 2 1.0 intronic rs2277859 PIEZO2 AD NM_022068 exon12 c.26222-118C>T 0.110224 0.1855 Uncertain 18_10697657_C->T 18 10697657 10697657 C T snp 86.77 0/1 30 5 1 4 0.8 intronic rs875956 PIEZO2 AD NM_022068 exon12 c.26222-88C>T 0.146166 0.1855 Uncertain 18_10697681_T->C 18 10697681 10697681 T C snp 142.77 0/1 99 10 5 5 0.5 intronic rs2277858 PIEZO2 AD NM_022068 exon12 c.26222-64T>C 0.081869 0.1855 Uncertain 18_10697708_C->A 18 10697708 10697708 C A snp 221.77 0/1 99 17 9 8 0.47 intronic rs875957 PIEZO2 AD NM_022068 exon12 c.26222-37C>A 0.146166 0.1855 0.102030 0.0799 0.2231 Uncertain 18_10697913_G->A 18 10697913 10697913 G A snp 869.77 0/1 99 85 44 41 0.48 intronic rs2277857 PIEZO2 AD NM_022068 exon12 c.26355+35G>A 0.146166 0.1855 0.090889 0.0973 0.2715 Uncertain 18_10705744_G->A 18 10705744 10705744 G A snp 863.77 0/1 99 62 29 33 0.53 exonic rs7227022 PIEZO2 AD synonymous SNV NM_022068 exon37 c.C5250T p.S1750S 0.298123 0.3661 0.3569 0.4764 Uncertain 18_10715851_A->G 18 10715851 10715851 A G snp 57.77 0/1 86 14 11 3 0.21 intronic rs28712767 PIEZO2 AD NM_022068 exon18 c.44291+37A>G 0.189696 0.2589 0.124836 0.1070 0.2417 Uncertain 18_10731666_T->- 18 10731666 10731666 T - indel 85.73 0/1 58 10 3 7 0.7 intronic rs3034920 PIEZO2 AD NM_022068 exon20 c.59996+147delT 0.359425 0.5357 Uncertain 18_10741011_G->A 18 10741011 10741011 G A snp 1508.77 0/1 99 132 65 67 0.51 intronic rs5024299 PIEZO2 AD NM_022068 exon22 c.69505-17G>A 0.84365 0.9137 0.842751 0.8004 0.9277 Uncertain 18_10743986_C->T 18 10743986 10743986 C T snp 371.77 0/1 99 32 17 15 0.47 intronic rs7233917 PIEZO2 AD NM_022068 exon24 c.72616-153C>T 0.646765 0.7133 Uncertain 18_10744108_G->A 18 10744108 10744108 G A snp 1445.77 0/1 99 129 65 64 0.5 intronic rs8093389 PIEZO2 AD NM_022068 exon24 c.72616-31G>A 0.646765 0.7133 0.657468 0.5552 0.6886 Uncertain 18_10748603_A->T 18 10748603 10748603 A T snp 1199.77 0/1 99 98 51 47 0.48 exonic rs8096037 PIEZO2 AD synonymous SNV NM_022068 exon28 c.T4215A p.L1405L 0.646965 0.7143 0.656373 0.6001 0.6955 Uncertain 18_10757868_A->G 18 10757868 10757868 A G snp 237.77 0/1 57 10 2 8 0.8 intronic rs7242408 PIEZO2 AD NM_022068 exon28 c.86443-98A>G 0.822684 0.9147 Uncertain 18_10758023_G->A 18 10758023 10758023 G A snp 1267.77 0/1 99 120 66 54 0.45 exonic rs7407105 PIEZO2 AD synonymous SNV NM_022068 exon25 c.C3792T p.N1264N 0.823083 0.9157 0.823916 0.7962 0.9320 Uncertain 18_10759840_C->A 18 10759840 10759840 C A snp 1169.77 0/1 99 143 90 53 0.37 exonic rs35033671 PIEZO2 AD nonsynonymous SNV NM_022068 exon23 c.G3443T p.C1148F 0.15655 0.0843 0.156592 0.2042 0.0693 0.23 T 1.0 P -1.117 T 0.0 T 0.001 T Pathogenic 18_10759935_A->G 18 10759935 10759935 A G snp 1399.77 0/1 99 113 52 61 0.54 intronic rs2865119 PIEZO2 AD NM_022068 exon30 c.88384+28A>G 0.821486 0.9157 0.826106 0.7979 0.9290 Uncertain 18_10759961_G->A 18 10759961 10759961 G A snp 1084.77 0/1 99 82 36 46 0.56 intronic rs2865118 PIEZO2 AD NM_022068 exon30 c.88384+54G>A 0.821286 0.9167 Uncertain 18_10762647_A->- 18 10762647 10762647 A - indel 640.73 0/1 99 45 15 30 0.67 intronic rs145636374 PIEZO2 AD NM_022068 exon32 c.91100+24delA 0.0483227 0.0317 0.041824 0.0162 0.0233 Uncertain 18_10762658_G->C 18 10762658 10762658 G C snp 619.77 0/1 99 39 15 24 0.62 intronic rs111396956 PIEZO2 AD NM_022068 exon32 c.91100+35G>C 0.0283546 0.0298 0.014017 0.0066 0.0211 Uncertain 18_10762699_C->T 18 10762699 10762699 C T snp 465.77 0/1 99 22 6 16 0.73 intronic rs9951309 PIEZO2 AD NM_022068 exon32 c.91100+76C>T 0.0473243 0.0298 Uncertain 18_10762810_G->A 18 10762810 10762810 G A snp 107.77 0/1 99 9 5 4 0.44 intronic rs73389085 PIEZO2 AD NM_022068 exon33 c.91396-109G>A 0.0453275 0.0298 Uncertain 18_10763007_T->C 18 10763007 10763007 T C snp 1461.77 0/1 99 141 77 64 0.45 exonic rs7227167 PIEZO2 AD synonymous SNV NM_022068 exon20 c.A2961G p.T987T 0.838059 0.9157 0.836399 0.8011 0.9341 Uncertain 18_10763218_T->C 18 10763218 10763218 T C snp 981.77 1/1 72 30 0 30 1.0 intronic rs2865131 PIEZO2 AD NM_022068 exon33 c.91573+122T>C 1 1 Uncertain 18_10784734_A->- 18 10784734 10784734 A - indel 407.74 1/1 30 10 0 10 1.0 intronic rs3830641 PIEZO2 AD NM_022068 exon36 c.113258-47delA 0.860224 0.9355 0.830821 0.8525 0.9567 Uncertain 18_10785070_A->C 18 10785070 10785070 A C snp 349.78 1/1 27 10 0 10 1.0 intronic rs12604151 PIEZO2 AD NM_022068 exon36 c.113432+115A>C 0.866214 0.9355 Uncertain 18_10785101_T->C 18 10785101 10785101 T C snp 136.03 1/1 12 4 0 4 1.0 intronic rs28605566 PIEZO2 AD NM_022068 exon36 c.113432+146T>C 0.553315 0.6696 Uncertain 18_10787047_G->A 18 10787047 10787047 G A snp 1220.77 1/1 87 49 0 49 1.0 exonic rs6505592 PIEZO2 AD synonymous SNV NM_022068 exon16 c.C2305T p.L769L 0.86242 0.9345 0.836766 0.8538 0.9556 Uncertain 18_10789014_G->A 18 10789014 10789014 G A snp 776.77 1/1 57 24 0 24 1.0 intronic rs2870106 PIEZO2 AD NM_022068 exon38 c.117553-62G>A 0.860024 0.9385 Uncertain 18_10795051_C->A 18 10795051 10795051 C A snp 308.77 0/1 99 39 24 15 0.38 intronic rs7236574 PIEZO2 AD NM_022068 exon40 c.123477+51C>A 0.252396 0.3889 Uncertain 18_10795057_C->G 18 10795057 10795057 C G snp 269.77 0/1 99 37 24 13 0.35 intronic rs7236576 PIEZO2 AD NM_022068 exon40 c.123477+57C>G 0.251597 0.3869 Uncertain 18_10795128_T->C 18 10795128 10795128 T C snp 120.77 0/1 69 7 3 4 0.57 intronic rs7237911 PIEZO2 AD NM_022068 exon40 c.123477+128T>C 0.252995 0.3889 Uncertain 18_10797362_T->G 18 10797362 10797362 T G snp 1150.77 0/1 99 108 60 48 0.44 intronic rs7407224 PIEZO2 AD NM_022068 exon41 c.125848-9T>G 0.251398 0.3631 0.230500 0.2549 0.3413 Uncertain 18_10911051_C->T 18 10911051 10911051 C T snp 107.03 1/1 12 10 0 10 1.0 intronic PIEZO2 AD NM_022068 exon49 c.239660-132C>T Uncertain 18_11066010_T->C 18 11066010 11066010 T C snp 347.78 1/1 27 9 0 9 1.0 intronic rs7236754 PIEZO2 AD NM_022068 exon51 c.394602-115T>C 0.804113 0.9653 Uncertain 18_11609754_G->A 18 11609754 11609754 G A snp 300.77 0/1 99 22 10 12 0.55 exonic rs74496495 SLC35G4 AU nonsynonymous SNV NM_001282300 exon1 c.G160A p.V54M 0.205072 0.3274 0.1567 0.3621 0.08 T 0.831 P -0.985 T Pathogenic 18_11609863_G->A 18 11609863 11609863 G A snp 2611.77 0/1 99 248 135 113 0.46 exonic rs112705545 SLC35G4 AU nonsynonymous SNV NM_001282300 exon1 c.G269A p.R90H 0.177516 0.3274 0.1485 0.3631 0.49 T 0.976 P -0.930 T Pathogenic 18_11609903_C->G 18 11609903 11609903 C G snp 7109.77 1/1 99 243 0 243 1.0 exonic rs8087561 SLC35G4 AU synonymous SNV NM_001282300 exon1 c.C309G p.R103R 0.853834 0.879 0.8407 0.8784 Uncertain 18_11609904_A->G 18 11609904 11609904 A G snp 7261.77 1/1 99 243 0 243 1.0 exonic rs8087447 SLC35G4 AU nonsynonymous SNV NM_001282300 exon1 c.A310G p.T104A 0.889776 0.8968 0.8537 0.8920 0.33 T 1.000 P -1.000 T Pathogenic 18_11610052_T->C 18 11610052 11610052 T C snp 1426.77 0/1 99 93 42 51 0.55 exonic rs74410464 SLC35G4 AU nonsynonymous SNV NM_001282300 exon1 c.T458C p.V153A 0.18111 0.3284 0.1491 0.3628 0.4 T 1.000 P -0.934 T Pathogenic 18_11610073_G->A 18 11610073 11610073 G A snp 1011.77 0/1 99 63 28 35 0.56 exonic rs75301503 SLC35G4 AU nonsynonymous SNV NM_001282300 exon1 c.G479A p.C160Y 0.180312 0.3274 0.1490 0.3614 1 T 0.255 P -1.000 T Pathogenic 18_11610163_G->C 18 11610163 11610163 G C snp 125.03 1/1 12 4 0 4 1.0 exonic rs62084100 SLC35G4 AU nonsynonymous SNV NM_001282300 exon1 c.G569C p.G190A 0.624401 0.7222 0.6634 0.7401 1 T -0.952 T Pathogenic 18_11619800_TGT->- 18 11619800 11619802 TGT - indel 2148.06 1/1 11 46 2 44 0.96 intergenic rs112261054 SLC35G4 AU 0.929912 0.9802 0.9788 0.9804 Uncertain 18_11752943_C->A 18 11752943 11752943 C A snp 2842.77 1/1 99 115 0 115 1.0 intronic rs1895689 GNAL AD NM_001142339 exon3 c.492+19C>A 0.348043 0.3284 0.351299 0.2968 0.3486 Uncertain 18_11753068_G->- 18 11753068 11753068 G - indel 599.73 1/1 45 19 0 19 1.0 intronic rs397858143 GNAL AD NM_001142339 exon3 c.492+144delG 0.340056 0.3284 Uncertain 18_11753716_G->A 18 11753716 11753716 G A snp 3013.77 1/1 99 112 0 112 1.0 intronic rs8095592 GNAL AD NM_001142339 exon4 c.1249+35G>A 0.349042 0.3294 0.350584 0.2937 0.3456 Uncertain 18_11754034_T->C 18 11754034 11754034 T C snp 1156.77 1/1 87 33 0 33 1.0 intronic rs72865259 GNAL AD NM_001142339 exon5 c.1512+90T>C 0.158746 0.2758 Uncertain 18_11824879_-->T 18 11824879 11824879 - T indel 779.73 ./1 99 34 0 34 1.0 intronic rs200508915 GNAL AD NM_001142339 exon6 c.72484-37insT 0.218051 0.2986 0.1748 0.2794 Uncertain 18_11824879_-->TT 18 11824879 11824879 - TT indel 779.73 ./1 99 34 0 34 1.0 intronic rs200508915 GNAL AD NM_001142339 exon6 c.72484-37insTT 0.0117812 0.0079 0.0062 0.0114 Uncertain 18_11851480_C->A 18 11851480 11851480 C A snp 1763.77 1/1 99 57 0 57 1.0 UTR5 rs16976750 CHMP1B AU 0.168131 0.3651 0.114642 0.2479 0.4595 Uncertain 18_11867297_C->T 18 11867297 11867297 C T snp 885.77 0/1 99 92 55 37 0.4 intronic rs2855646 GNAL AD NM_001142339 exon9 c.114793+72C>T 0.254193 0.127 0.265221 Uncertain 18_11872174_G->T 18 11872174 11872174 G T snp 46.77 0/1 70 5 2 3 0.6 intronic rs2855639 GNAL AD NM_001142339 exon11 c.119834-92G>T 0.146765 0.0933 Uncertain 18_11872516_T->C 18 11872516 11872516 T C snp 222.84 1/1 18 6 0 6 1.0 intronic rs2071140 GNAL AD NM_001142339 exon11 c.119965+119T>C 0.244609 0.128 Uncertain 18_11884435_G->A 18 11884435 11884435 G A snp 473.77 0/1 99 41 21 20 0.49 UTR3 rs149502185 GNAL AD 0.000599042 0.001 0.000077 0.0003 0.0007 Uncertain 18_11884670_C->G 18 11884670 11884670 C G snp 213.77 0/1 99 24 16 8 0.33 UTR3 rs643652 GNAL AD 0.68111 0.8859 0.607643 0.5922 0.9007 Uncertain 18_11897016_T->C 18 11897016 11897016 T C snp 699.77 0/1 99 82 44 38 0.46 exonic rs138456014 MPPE1 AU nonsynonymous SNV NM_001242904 exon2 c.A248G p.E83G 0.0207668 0.0456 0.000384 0.0157 0.0594 0.15 T 0.512 D -1.045 T 0.975 D 0.591 D Pathogenic 18_12012457_A->C 18 12012457 12012457 A C snp 376.77 1/1 30 10 0 10 1.0 intronic rs635370 IMPA2 AU NM_014214 exon4 c.30546+243A>C 0.942692 1 Uncertain 18_12012467_A->C 18 12012467 12012467 A C snp 254.8 1/1 21 7 0 7 1.0 intronic rs16976956 IMPA2 AU NM_014214 exon4 c.30546+253A>C 0.197883 0.4425 Uncertain 18_12012516_G->A 18 12012516 12012516 G A snp 56.74 1/1 6 2 0 2 1.0 intronic rs16976957 IMPA2 AU NM_014214 exon4 c.30546+302G>A 0.197085 0.4425 Uncertain 18_12014220_G->A 18 12014220 12014220 G A snp 2441.77 1/1 99 87 0 87 1.0 intronic rs45512594 IMPA2 AU NM_014214 exon5 c.32595-43G>A 0.198083 0.4444 0.087806 0.1698 0.4478 Uncertain 18_12014411_T->G 18 12014411 12014411 T G snp 2697.77 1/1 99 94 0 94 1.0 intronic rs643107 IMPA2 AU NM_014214 exon5 c.32704+39T>G 0.990415 1 0.989177 0.9965 1 Uncertain 18_12027942_T->- 18 12027942 12027942 T - indel 799.73 0/1 99 34 13 21 0.62 intronic rs45446291 IMPA2 AU NM_014214 exon6 c.46373-99delT 0.355631 0.7212 Uncertain 18_12028247_A->G 18 12028247 12028247 A G snp 40.77 0/1 69 5 3 2 0.4 intronic rs612599 IMPA2 AU NM_014214 exon6 c.46482+97A>G 0.80651 0.8988 Uncertain 18_12028249_G->A 18 12028249 12028249 G A snp 40.77 0/1 69 5 3 2 0.4 intronic rs2075826 IMPA2 AU NM_014214 exon6 c.46482+99G>A 0.339257 0.7202 Uncertain 18_12028749_T->C 18 12028749 12028749 T C snp 37.77 0/1 66 6 4 2 0.33 intronic rs549069546 IMPA2 AU NM_014214 exon7 c.47172-91T>C 0.000199681 0.001 Uncertain 18_12057195_A->G 18 12057195 12057195 A G snp 394.77 0/1 99 37 21 16 0.43 intergenic rs9959517 IMPA2 AU 0.575479 0.255 Uncertain 18_12057389_C->G 18 12057389 12057389 C G snp 2823.77 0/1 99 218 96 122 0.56 intergenic rs9959781 IMPA2 AU 0.57528 0.256 0.7652 0.4958 Uncertain 18_12057403_A->G 18 12057403 12057403 A G snp 2952.77 0/1 99 233 106 127 0.55 intergenic rs9959774 IMPA2 AU 0.570887 0.255 0.7676 0.4896 0.97 T -0.939 T Uncertain 18_12057809_G->C 18 12057809 12057809 G C snp 203.77 0/1 99 18 10 8 0.44 intergenic rs9960429 IMPA2 AU 0.628594 0.2649 Uncertain 18_12067762_C->T 18 12067762 12067762 C T snp 615.77 0/1 99 76 48 28 0.37 intergenic rs7506731 IMPA2 AU 0.550319 0.256 Uncertain 18_12067777_T->C 18 12067777 12067777 T C snp 400.77 0/1 99 68 48 20 0.29 intergenic rs6505712 IMPA2 AU 0.63738 0.2847 Uncertain 18_12067919_G->A 18 12067919 12067919 G A snp 405.77 0/1 99 59 37 22 0.37 intergenic rs12966234 IMPA2 AU 0.550719 0.256 Uncertain 18_12068078_G->T 18 12068078 12068078 G T snp 1815.77 0/1 99 170 88 82 0.48 intergenic rs34203217 IMPA2 AU 0.189696 0.0784 Uncertain 18_12076504_A->C 18 12076504 12076504 A C snp 101.28 1/1 9 4 0 4 1.0 intergenic rs12966109 IMPA2 AU 0.901158 0.7887 Uncertain 18_12094006_C->T 18 12094006 12094006 C T snp 326.77 0/1 99 18 8 10 0.56 UTR5 rs9964971 ANKRD62 AU 0.525958 0.2391 0.6046 0.2071 Uncertain 18_12094031_G->T 18 12094031 12094031 G T snp 330.77 0/1 99 30 18 12 0.4 exonic rs11664969 ANKRD62 AU synonymous SNV NM_001277333 exon1 c.G15T p.G5G 0.29393 0.5347 0.2881 0.6068 Uncertain 18_12096249_G->T 18 12096249 12096249 G T snp 1146.77 0/1 99 120 70 50 0.42 exonic rs1986751 ANKRD62 AU nonsynonymous SNV NM_001277333 exon4 c.G562T p.A188S 0.524561 0.2391 0.6040 0.228 0 D 0.0 P -0.927 T Pathogenic 18_12097547_A->G 18 12097547 12097547 A G snp 110.77 0/1 99 17 12 5 0.29 intronic rs4796945 ANKRD62 AU NM_001277333 exon5 c.3622-91A>G 0.524361 0.2391 Uncertain 18_12099654_T->C 18 12099654 12099654 T C snp 613.77 0/1 99 53 27 26 0.49 exonic rs6505715 ANKRD62 AU nonsynonymous SNV NM_001277333 exon6 c.T793C p.C265R 0.524361 0.2391 0.6014 0.2143 0.34 T 0.0 P -0.972 T Pathogenic 18_12107493_G->A 18 12107493 12107493 G A snp 409.77 0/1 99 39 21 18 0.46 intronic rs77270132 ANKRD62 AU NM_001277333 exon8 c.13450+27G>A 0.107029 0.0873 0.2084 0.0632 Uncertain 18_12115002_A->G 18 12115002 12115002 A G snp 56.74 1/1 6 2 0 2 1.0 intronic rs9959641 ANKRD62 AU NM_001277333 exon9 c.21070-84A>G 0.547125 0.252 Uncertain 18_12115310_C->T 18 12115310 12115310 C T snp 802.77 0/1 99 50 18 32 0.64 intronic rs8091585 ANKRD62 AU NM_001277333 exon10 c.21375-81C>T 0.547524 0.254 Uncertain 18_12115339_A->G 18 12115339 12115339 A G snp 845.77 0/1 99 55 25 30 0.55 intronic rs8091463 ANKRD62 AU NM_001277333 exon10 c.21375-52A>G 0.547324 0.253 Uncertain 18_12115509_G->A 18 12115509 12115509 G A snp 292.77 0/1 99 30 18 12 0.4 exonic rs4519391 ANKRD62 AU nonsynonymous SNV NM_001277333 exon10 c.G1216A p.E406K 0.527356 0.252 0.6094 0.2490 0.17 T 0.0 P -0.972 T 0.98 D 0.855 D Pathogenic 18_12124152_C->G 18 12124152 12124152 C G snp 533.77 0/1 99 43 18 25 0.58 exonic rs11873244 ANKRD62 AU nonsynonymous SNV NM_001277333 exon12 c.C1471G p.Q491E 0.235423 0.0675 0.2987 0.0777 1 T 0.000 P -0.949 T 0.0 T 0.0 T Pathogenic 18_12125657_G->A 18 12125657 12125657 G A snp 1270.77 0/1 99 112 55 57 0.51 exonic rs7243248 ANKRD62 AU nonsynonymous SNV NM_001277333 exon13 c.G1837A p.A613T 0.546526 0.249 0.6118 0.2518 1 T 0.000 P -0.971 T 0.0 T 0.0 T Pathogenic 18_12126407_T->A 18 12126407 12126407 T A snp 325.77 0/1 99 24 11 13 0.54 intronic rs9303759 ANKRD62 AU NM_001277333 exon13 c.32366+25T>A 0.546725 0.25 0.6032 0.2301 Uncertain 18_12254956_G->A 18 12254956 12254956 G A snp 358.77 0/1 99 22 10 12 0.55 intronic rs34939372 CIDEA AU NM_001279 exon1 c.38+536G>A 0.15595 0.2183 0.127099 0.3121 0.3524 Uncertain 18_12263067_A->G 18 12263067 12263067 A G snp 158.77 0/1 99 8 3 5 0.63 intronic rs8090997 CIDEA AU NM_001279 exon2 c.8586+99A>G 0.604034 0.3889 Uncertain 18_12264493_C->- 18 12264493 12264493 C - indel 647.73 0/1 99 31 13 18 0.58 intronic rs34567652 CIDEA AU NM_001279 exon3 c.10070+41delC 0.135783 0.1498 0.094808 0.0942 0.1579 Uncertain 18_12264512_T->C 18 12264512 12264512 T C snp 684.77 1/1 51 17 0 17 1.0 intronic rs6505738 CIDEA AU NM_001279 exon3 c.10070+60T>C 0.971645 0.999 Uncertain 18_12274104_G->T 18 12274104 12274104 G T snp 1631.77 0/1 99 138 68 70 0.51 exonic rs11545881 CIDEA AU nonsynonymous SNV NM_001279 exon4 c.G343T p.V115F 0.364217 0.5278 0.305936 0.3702 0.5251 0.7 T 0.0 P -1.006 T 0.528 P 0.088 P ID=CM053175;DIS=Obesity, association with;TAG=DP;PUB=16186410 DP Pathogenic 18_12308273_G->T 18 12308273 12308273 G T snp 85.77 0/1 99 10 5 5 0.5 UTR5 rs11548177 TUBB6 AU 0.128994 0.1488 0.094599 0.1616 0.2112 Uncertain 18_12308608_C->T 18 12308608 12308608 C T snp 503.77 0/1 99 26 10 16 0.62 intronic rs77669770 TUBB6 AU NM_001303525 exon2 c.394-77C>T 0.129193 0.1488 Uncertain 18_12308793_G->C 18 12308793 12308793 G C snp 3215.74 0/1 99 249 129 120 0.48 exonic rs11267036 TUBB6 AU synonymous SNV NM_001303525 exon2 c.G165C p.S55S 0.129393 0.1478 0.101799 0.1243 0.1641 Uncertain 18_12329536_C->G 18 12329536 12329536 C G snp 754.77 1/1 57 27 0 27 1.0 UTR3 rs1129115 AFG3L2 AR,AD 0.335863 0.375 0.277180 0.2631 0.3845 Uncertain 18_12353178_A->T 18 12353178 12353178 A T snp 753.77 0/1 99 56 26 30 0.54 intronic rs9966470 AFG3L2 AR,AD NM_006796 exon8 c.23594+21A>T 0.123003 0.1478 0.094956 0.1233 0.1615 Uncertain 18_12363683_C->T 18 12363683 12363683 C T snp 269.8 1/1 21 8 0 8 1.0 intronic rs2298543 AFG3L2 AR,AD NM_006796 exon12 c.34217-97C>T 0.271965 0.3909 Uncertain 18_12367442_T->C 18 12367442 12367442 T C snp 2096.77 0/1 99 217 122 95 0.44 intronic rs8093375 AFG3L2 AR,AD NM_006796 exon14 c.37818+61T>C 0.170727 0.254 Uncertain 18_12370981_G->A 18 12370981 12370981 G A snp 80.77 0/1 99 7 4 3 0.43 intronic rs191943275 AFG3L2 AR,AD NM_006796 exon15 c.41362+56G>A 0.000199681 0.001 Uncertain 18_12377177_C->G 18 12377177 12377177 C G snp 371.77 0/1 99 30 10 20 0.67 UTR5 rs12327346 AFG3L2 AR,AD 0.188299 0.1369 0.1032 0.1698 0.73 T 0.000 P -0.922 T Uncertain 18_12421442_T->A 18 12421442 12421442 T A snp 721.77 1/1 54 20 0 20 1.0 intronic rs3906620 SLMO1 AU NM_006553 exon3 c.13564-96T>A 0.751398 0.9802 Uncertain 18_12429313_C->T 18 12429313 12429313 C T snp 1442.77 1/1 99 54 0 54 1.0 intronic rs3760550 SLMO1 AU NM_006553 exon6 c.21374-35C>T 0.400958 0.5 0.421113 0.4748 0.4999 Uncertain 18_12453005_A->G 18 12453005 12453005 A G snp 412.77 0/1 99 38 20 18 0.47 intronic rs499013 SPIRE1 AU NM_001128626 exon4 c.3430-61A>G 0.792732 0.8591 0.744079 Uncertain 18_12512386_A->- 18 12512386 12512386 A - indel 594.73 0/1 99 60 25 35 0.58 intronic rs527373683 SPIRE1 AU NM_001128626 exon13 c.62816-66delA 0.342652 0.3641 Uncertain 18_12512559_C->A 18 12512559 12512559 C A snp 2250.77 0/1 99 203 107 96 0.47 intronic rs550613 SPIRE1 AU NM_001128626 exon13 c.62894+29C>A 0.824281 0.7728 0.837921 0.7991 0.7521 Uncertain 18_12512574_T->C 18 12512574 12512574 T C snp 4462.77 1/1 99 134 0 134 1.0 intronic rs567709 SPIRE1 AU NM_001128626 exon13 c.62894+44T>C 0.999601 1 0.996539 0.9958 0.9999 Uncertain 18_12634935_A->- 18 12634935 12634935 A - indel 80.73 0/1 99 17 9 8 0.47 intronic rs35302137 SPIRE1 AU NM_001128626 exon16 c.185424-125delA Uncertain 18_12634986_T->G 18 12634986 12634986 T G snp 576.77 0/1 99 46 19 27 0.59 intronic rs12454931 SPIRE1 AU NM_001128626 exon16 c.185424-74T>G 0.416733 0.5942 0.392685 Uncertain 18_12658556_G->T 18 12658556 12658556 G T snp 1875.77 0/1 99 169 87 82 0.49 upstream rs182085739 PSMG2 AU 0.00159744 0.0079 0.0003 0.0085 0 D -0.835 T Uncertain 18_12700092_A->G 18 12700092 12700092 A G snp 99.28 1/1 9 3 0 3 1.0 intronic rs2542173 CEP76 AU NM_024899 exon10 c.26541+188A>G 0.984625 1 Uncertain 18_12702610_G->A 18 12702610 12702610 G A snp 1479.77 0/1 99 94 38 56 0.6 UTR5 rs4797701 CEP76 AU 0.176318 0.2212 0.141788 Uncertain 18_12951738_G->A 18 12951738 12951738 G A snp 1222.77 1/1 87 42 0 42 1.0 intronic rs1474043 SEH1L AU NM_031216 exon2 c.3733-115G>A 0.769968 0.7837 Uncertain 18_12955440_T->- 18 12955440 12955440 T - indel 185.75 1/1 24 9 0 9 1.0 intronic rs11286163 SEH1L AU NM_031216 exon3 c.7341-21delT 0.570687 0.5764 0.5117 0.5130 Uncertain 18_12979056_C->T 18 12979056 12979056 C T snp 93.28 1/1 9 3 0 3 1.0 intronic rs62095802 SEH1L AU NM_031216 exon6 c.30771+165C>T 0.0780751 0.1786 Uncertain 18_12982760_G->A 18 12982760 12982760 G A snp 1468.77 1/1 99 45 0 45 1.0 intronic rs12955780 SEH1L AU NM_031216 exon7 c.34554+86G>A 0.78155 0.8085 Uncertain 18_12984144_C->A 18 12984144 12984144 C A snp 4471.77 1/1 99 160 0 160 1.0 exonic rs6505776 SEH1L AU nonsynonymous SNV NM_001013437 exon8 c.C1025A p.T342N 0.782149 0.8105 0.722547 0.6769 0.7916 0.69 T 0.000 P -0.992 T 0.0 T 0.0 T Pathogenic 18_12984271_G->A 18 12984271 12984271 G A snp 892.77 1/1 66 24 0 24 1.0 intronic rs62095825 SEH1L AU NM_031216 exon8 c.36069+82G>A 0.077476 0.1786 0.047785 0.0582 0.1667 Uncertain 18_12984340_A->C 18 12984340 12984340 A C snp 56.74 1/1 6 2 0 2 1.0 intronic rs2902856 SEH1L AU NM_031216 exon8 c.36069+151A>C 0.77476 0.8105 Uncertain 18_12986802_-->TT 18 12986802 12986802 - TT indel 256.75 1/1 24 8 0 8 1.0 UTR3 rs113784266 SEH1L AU 0.210264 0.3125 Uncertain 18_12999754_C->T 18 12999754 12999754 C T snp 548.77 1/1 45 15 0 15 1.0 intronic rs9949589 CEP192 AU NM_032142 exon2 c.164+167C>T 0.76877 0.8095 Uncertain 18_13001512_G->C 18 13001512 13001512 G C snp 238.77 0/1 99 42 27 15 0.36 exonic rs4499304 CEP192 AU nonsynonymous SNV NM_032142 exon3 c.G221C p.G74A 0.430711 0.3552 0.3980 0.3252 1 T 0.000 P -0.956 T 0.001 T 0.001 T Pathogenic 18_13008369_A->G 18 13008369 13008369 A G snp 303.78 1/1 24 10 0 10 1.0 intronic rs6505777 CEP192 AU NM_032142 exon4 c.9031-85A>G 0.769369 0.8085 Uncertain 18_13015625_A->G 18 13015625 13015625 A G snp 1001.77 0/1 99 47 16 31 0.66 intronic rs77392474 CEP192 AU NM_032142 exon6 c.16024+178A>G 0.0543131 0.1528 Uncertain 18_13017462_G->A 18 13017462 13017462 G A snp 79.77 0/1 99 8 4 4 0.5 intronic rs60444886 CEP192 AU NM_032142 exon7 c.17912+127G>A 0.161542 0.2986 Uncertain 18_13018667_T->- 18 13018667 13018667 T - indel 226.73 0/1 99 21 7 14 0.67 intronic rs148297078 CEP192 AU NM_032142 exon8 c.19191+53delT 0.120807 0.2391 0.096273 Uncertain 18_13030383_G->A 18 13030383 13030383 G A snp 250.8 1/1 21 10 0 10 1.0 intronic rs9964466 CEP192 AU NM_032142 exon11 c.31040-80G>A 0.768371 0.8085 Uncertain 18_13037432_A->G 18 13037432 13037432 A G snp 40.77 0/1 69 7 4 3 0.43 intronic rs74368882 CEP192 AU NM_032142 exon12 c.37877+132A>G 0.063099 0.1528 Uncertain 18_13038431_A->G 18 13038431 13038431 A G snp 1809.77 0/1 99 197 114 83 0.42 exonic rs16940057 CEP192 AU synonymous SNV NM_032142 exon13 c.A1662G p.T554T 0.063099 0.1528 0.039422 0.0518 0.1158 Uncertain 18_13048796_G->A 18 13048796 13048796 G A snp 774.77 0/1 99 63 35 28 0.44 intronic rs68169869 CEP192 AU NM_032142 exon16 c.49434-61G>A 0.190096 0.2996 Uncertain 18_13049948_-->A 18 13049948 13049948 - A indel 707.73 1/1 69 31 0 31 1.0 intronic rs11441028 CEP192 AU NM_032142 exon17 c.50467+58insA 0.769768 0.8095 Uncertain 18_13052894_GTGTGAGC->- 18 13052894 13052901 GTGTGAGC - indel 808.73 0/1 99 24 16 8 0.33 intronic rs367807750 CEP192 AU NM_032142 exon18 c.53494-23_53494-16delGTGTGAGC Uncertain 18_13052902_-->CCTTCA 18 13052902 13052902 - CCTTCA indel 663.73 0/1 99 31 22 9 0.29 intronic CEP192 AU NM_032142 exon18 c.53494-15insCCTTCA Uncertain 18_13056682_G->A 18 13056682 13056682 G A snp 1656.77 0/1 99 181 107 74 0.41 exonic rs2282542 CEP192 AU nonsynonymous SNV NM_032142 exon19 c.G4093A p.V1365M 0.192292 0.3016 0.124577 0.1537 0.3084 1 T 0.0 P -0.966 T 0.005 T 0.002 T Pathogenic 18_13059326_A->G 18 13059326 13059326 A G snp 1866.77 0/1 99 164 81 83 0.51 intronic rs16940075 CEP192 AU NM_032142 exon21 c.59888+15A>G 0.063099 0.1528 0.042211 0.0473 0.1323 Uncertain 18_13067727_G->T 18 13067727 13067727 G T snp 164.77 0/1 59 9 2 7 0.78 intronic rs7243536 CEP192 AU NM_032142 exon22 c.68406-102G>T 0.187101 0.2986 Uncertain 18_13068109_G->A 18 13068109 13068109 G A snp 1927.77 0/1 99 166 84 82 0.49 exonic rs7228940 CEP192 AU nonsynonymous SNV NM_032142 exon23 c.G4631A p.R1544H 0.187101 0.2986 0.122866 0.1494 0.3075 0 D 1.000 P -1.166 T 0.958 D 0.485 D Pathogenic 18_13068132_T->C 18 13068132 13068132 T C snp 4250.77 1/1 99 160 0 160 1.0 exonic rs578208 CEP192 AU nonsynonymous SNV NM_032142 exon23 c.T4654C p.S1552P 0.747204 0.8105 0.683761 0.6623 0.7960 1 T 0.007 P -0.962 T 0.0 T 0.0 T Pathogenic 18_13069221_C->T 18 13069221 13069221 C T snp 1255.77 0/1 99 119 63 56 0.47 intronic rs3809910 CEP192 AU NM_032142 exon26 c.69757+41C>T 0.0688898 0.1528 0.048977 0.0493 0.1330 Uncertain 18_13069782_C->T 18 13069782 13069782 C T snp 3891.77 1/1 99 150 2 148 0.99 exonic rs6505780 CEP192 AU nonsynonymous SNV NM_032142 exon27 c.C5101T p.L1701F 0.770168 0.8105 0.708519 0.6697 0.7956 1 T 0.000 P -0.955 T 0.0 T 0.0 T Pathogenic 18_13072702_G->A 18 13072702 13072702 G A snp 1258.77 0/1 99 58 20 38 0.66 intronic rs12607682 CEP192 AU NM_032142 exon29 c.73330-51G>A 0.19369 0.3006 0.126651 Uncertain 18_13073264_C->T 18 13073264 13073264 C T snp 1371.77 0/1 99 101 52 49 0.49 intronic rs3809908 CEP192 AU NM_032142 exon30 c.73761+80C>T 0.1877 0.2986 Uncertain 18_13073287_C->A 18 13073287 13073287 C A snp 910.77 0/1 99 63 33 30 0.48 intronic rs3809907 CEP192 AU NM_032142 exon30 c.73761+103C>A 0.187899 0.2986 Uncertain 18_13087789_A->G 18 13087789 13087789 A G snp 610.77 1/1 45 18 0 18 1.0 intronic rs472992 CEP192 AU NM_032142 exon32 c.88222+144A>G 0.769968 0.8085 Uncertain 18_13087815_G->A 18 13087815 13087815 G A snp 294.78 1/1 24 8 0 8 1.0 intronic rs527839 CEP192 AU NM_032142 exon32 c.88222+170G>A 0.752396 0.8085 Uncertain 18_13088673_T->C 18 13088673 13088673 T C snp 137.77 0/1 99 11 6 5 0.45 intronic rs498685 CEP192 AU NM_032142 exon33 c.90031-781T>C 0.690296 0.6577 Uncertain 18_13089029_C->T 18 13089029 13089029 C T snp 74.77 0/1 99 9 6 3 0.33 intronic rs11080624 CEP192 AU NM_032142 exon33 c.90031-425C>T 0.189896 0.2986 Uncertain 18_13092424_G->A 18 13092424 13092424 G A snp 614.77 0/1 99 51 23 28 0.55 exonic rs2027698 CEP192 AU nonsynonymous SNV NM_032142 exon34 c.G6152A p.S2051N 0.063099 0.1528 0.042064 0.0473 0.1320 1 T 0.223 P -0.963 T 0.001 T 0.001 T Pathogenic 18_13095591_G->A 18 13095591 13095591 G A snp 2049.77 0/1 99 155 59 96 0.62 exonic rs56913743 CEP192 AU nonsynonymous SNV NM_032142 exon35 c.G6344A p.R2115Q 0.189896 0.2986 0.124789 0.1502 0.3075 1 T 0.0 P -0.974 T 0.003 T 0.0 T Pathogenic 18_13095609_T->C 18 13095609 13095609 T C snp 4539.77 1/1 99 171 0 171 1.0 exonic rs474337 CEP192 AU nonsynonymous SNV NM_032142 exon35 c.T6362C p.L2121P 0.769968 0.8105 0.708673 0.6697 0.7961 0.29 T 0.017 P -1.032 T 0.003 T 0.003 T Pathogenic 18_13095626_G->A 18 13095626 13095626 G A snp 1631.77 0/1 99 180 108 72 0.4 exonic rs140871219 CEP192 AU nonsynonymous SNV NM_032142 exon35 c.G6379A p.E2127K 0.000798722 0.004 0.000154 0.0004 0.0031 0.1 T 1 N -1.024 T 0.116 T 0.019 T ID=COSM986728,COSM986729;OCCURENCE=1(endometrium) Pathogenic 18_13096403_G->A 18 13096403 13096403 G A snp 627.77 0/1 99 57 29 28 0.49 intronic rs12607152 CEP192 AU NM_032142 exon36 c.96883+97G>A 0.189696 0.2986 Uncertain 18_13096436_T->C 18 13096436 13096436 T C snp 1158.77 1/1 84 38 0 38 1.0 intronic rs556371 CEP192 AU NM_032142 exon36 c.96883+130T>C 0.769968 0.8105 Uncertain 18_13100451_A->G 18 13100451 13100451 A G snp 1619.77 0/1 99 126 60 66 0.52 exonic rs3737379 CEP192 AU nonsynonymous SNV NM_032142 exon38 c.A6811G p.K2271E 0.0632987 0.1528 0.042211 0.0473 0.1322 0.13 T 0.978 P -0.934 T 0.971 D 0.54 D Pathogenic 18_13114046_A->G 18 13114046 13114046 A G snp 437.77 0/1 99 32 17 15 0.47 intronic rs2298595 CEP192 AU NM_032142 exon42 c.114705-82A>G 0.0638978 0.1538 Uncertain 18_13116235_C->T 18 13116235 13116235 C T snp 96.77 0/1 99 12 8 4 0.33 intronic rs3786163 CEP192 AU NM_032142 exon43 c.116952-140C>T 0.188898 0.2976 Uncertain 18_13116432_G->T 18 13116432 13116432 G T snp 4676.77 1/1 99 184 0 184 1.0 exonic rs1786263 CEP192 AU nonsynonymous SNV NM_032142 exon43 c.G7346T p.R2449L 0.775559 0.8075 0.719130 0.6709 0.7950 1 T 0.000 P -1.000 T 0.001 T 0.0 T Pathogenic 18_13124609_T->C 18 13124609 13124609 T C snp 475.77 0/1 99 51 30 21 0.41 intronic rs11080628 CEP192 AU NM_032142 exon45 c.125207-21T>C 0.138778 0.2401 0.091419 0.1217 0.2583 Uncertain 18_13438063_C->T 18 13438063 13438063 C T snp 34.77 0/1 63 6 4 2 0.33 intronic rs114846826 LDLRAD4 AU NM_181481 exon3 c.50521-179C>T 0.00778754 0.005 Uncertain 18_13459766_A->G 18 13459766 13459766 A G snp 71.77 0/1 99 10 6 4 0.4 intronic rs11661042 LDLRAD4 AU NM_181481 exon3 c.50662+21383A>G 0.246805 0.371 Uncertain 18_13460037_G->A 18 13460037 13460037 G A snp 631.77 0/1 99 52 27 25 0.48 intronic rs59728040 LDLRAD4 AU NM_181481 exon3 c.50662+21654G>A 0.262181 0.372 0.5 . Uncertain 18_13460078_T->C 18 13460078 13460078 T C snp 412.77 0/1 99 38 20 18 0.47 intronic rs59719495 LDLRAD4 AU NM_181481 exon3 c.50662+21695T>C 0.247005 0.372 Uncertain 18_13611175_A->G 18 13611175 13611175 A G snp 1420.77 0/1 99 119 59 60 0.5 ncRNA_exonic rs370878033 MIR4526 AU 0.0123802 0.0327 Uncertain 18_13621342_A->C 18 13621342 13621342 A C snp 320.77 0/1 99 30 18 12 0.4 intronic rs8087610 LDLRAD4 AU NM_181481 exon4 c.233549+72A>C 0.0359425 0.0427 Uncertain 18_13643441_G->C 18 13643441 13643441 G C snp 592.77 0/1 99 40 19 21 0.53 intronic rs201167215 LDLRAD4 AU NM_181481 exon5 c.255690+30G>C 0.0103834 0.0446 0.0098 0.1020 Uncertain 18_13666768_A->G 18 13666768 13666768 A G snp 1332.77 0/1 99 82 28 54 0.66 intronic rs1149356 FAM210A AU NM_152352 exon1 c.234+56A>G 0.622404 0.88 Uncertain 18_13671977_A->- 18 13671977 13671977 A - indel 356.73 0/1 99 67 26 41 0.61 splicing rs369611940 FAM210A AU NM_152352 exon2 c.5494+5delA 0.2420 0.2137 ID=COSM1611078;OCCURENCE=1(liver) Pathogenic 18_13672065_A->C 18 13672065 13672065 A C snp 111.77 0/1 99 9 5 4 0.44 intronic rs76578337 FAM210A AU NM_152352 exon2 c.5494+93A>C 0.0421326 0.0188 Uncertain 18_13740011_G->A 18 13740011 13740011 G A snp 245.77 0/1 99 22 13 9 0.41 intronic rs78751194 RNMT AU NM_003799 exon6 c.8649-154G>A 0.00678914 0.0179 Uncertain 18_13741449_A->G 18 13741449 13741449 A G snp 810.77 0/1 99 48 20 28 0.58 intronic rs115115381 RNMT AU NM_003799 exon7 c.9992-59A>G 0.014377 0.0159 Uncertain 18_13742365_A->C 18 13742365 13742365 A C snp 54.74 1/1 6 3 1 2 0.67 intronic rs4239313 RNMT AU NM_003799 exon8 c.10970-121A>C 0.923323 0.9792 Uncertain 18_13759816_T->C 18 13759816 13759816 T C snp 309.78 1/1 24 8 0 8 1.0 intronic rs4797812 RNMT AU NM_003799 exon12 c.28424-124T>C 0.892772 0.9782 Uncertain 18_13759820_G->T 18 13759820 13759820 G T snp 307.78 1/1 24 8 0 8 1.0 intronic rs4797813 RNMT AU NM_003799 exon12 c.28424-120G>T 0.892772 0.9782 Uncertain 18_13762011_C->A 18 13762011 13762011 C A snp 1457.77 1/1 99 50 0 50 1.0 UTR3 rs4461147 RNMT AU 0.892173 0.9792 0.8587 0.985 Uncertain 18_14105016_C->A 18 14105016 14105016 C A snp 1836.77 0/1 99 135 67 68 0.5 exonic rs61609068 ZNF519 AU nonsynonymous SNV NM_145287 exon3 c.G1523T p.R508I 0.292133 0.6597 0.188759 0.2535 0.6811 0.24 T 0.925 P -0.928 T 0.857 T 0.299 P Pathogenic 18_14105923_T->C 18 14105923 14105923 T C snp 2049.77 1/1 99 76 0 76 1.0 exonic rs2159940 ZNF519 AU nonsynonymous SNV NM_145287 exon3 c.A616G p.K206E 0.980232 1 0.979241 0.9942 1 1 T 0.0 P -0.985 T 0.063 T 0.012 T Pathogenic 18_14106039_T->C 18 14106039 14106039 T C snp 567.77 0/1 99 43 20 23 0.53 exonic rs62086326 ZNF519 AU nonsynonymous SNV NM_145287 exon3 c.A500G p.N167S 0.193091 0.2381 0.177941 0.2478 0.2213 0.77 T 0.0 P -0.966 T 0.283 T 0.099 T Pathogenic 18_14156143_A->G 18 14156143 14156143 A G snp 390.77 1/1 33 22 0 22 1.0 intergenic rs2847004 ZNF519 AU 0.952276 1 Uncertain 18_14156241_A->T 18 14156241 14156241 A T snp 1664.77 1/1 99 74 0 74 1.0 intergenic rs4528647 ZNF519 AU 0.953474 0.999 Uncertain 18_14157291_A->T 18 14157291 14157291 A T snp 2242.77 0/1 99 175 84 91 0.52 intergenic rs9959262 ZNF519 AU 0.509585 0.4167 Uncertain 18_14157373_T->A 18 14157373 14157373 T A snp 1127.77 1/1 81 35 0 35 1.0 intergenic rs7505684 ZNF519 AU 0.973243 1 Uncertain 18_14179603_A->G 18 14179603 14179603 A G snp 70.77 0/1 69 6 2 4 0.67 ncRNA_intronic rs4797872 ANKRD20A5P AU 0.586861 0.4177 0.7513 0.3915 Uncertain 18_14378446_A->G 18 14378446 14378446 A G snp 443.77 1/1 33 14 0 14 1.0 intergenic rs12604202 CYP4F35P AU 0.214457 0.5585 Uncertain 18_14378533_G->C 18 14378533 14378533 G C snp 961.77 1/1 69 36 0 36 1.0 intergenic rs2137484 CYP4F35P AU Uncertain 18_14378579_C->T 18 14378579 14378579 C T snp 943.77 1/1 66 40 0 40 1.0 intergenic rs12604237 CYP4F35P AU 0.204073 0.5556 Uncertain 18_14393807_C->G 18 14393807 14393807 C G snp 172.78 0/1 27 10 2 8 0.8 intergenic rs62080576 CYP4F35P AU 0.214257 0.1835 Uncertain 18_14393945_G->C 18 14393945 14393945 G C snp 154.78 0/1 27 8 2 6 0.75 intergenic rs56386651 CYP4F35P AU Uncertain 18_14542909_G->A 18 14542909 14542909 G A snp 285.77 0/1 99 37 19 18 0.49 exonic rs370268513 POTEC AU synonymous SNV NM_001137671 exon1 c.C237T p.N79N 0.4785 0.4951 Uncertain 18_14542931_C->T 18 14542931 14542931 C T snp 359.77 0/1 99 60 47 13 0.22 exonic rs45554841 POTEC AU nonsynonymous SNV NM_001137671 exon1 c.G215A p.C72Y 0.1715 0.3677 0 D 0.0 P -1.048 T 0.992 D 0.982 D Pathogenic 18_14542949_T->C 18 14542949 14542949 T C snp 439.77 0/1 99 83 62 21 0.25 exonic rs9807555 POTEC AU nonsynonymous SNV NM_001137671 exon1 c.A197G p.H66R 0.1760 0.3605 0.31 T 1 N -1.003 T 0.001 T 0.001 T Pathogenic 18_14542979_A->G 18 14542979 14542979 A G snp 393.77 0/1 99 133 104 29 0.22 exonic rs200806970 POTEC AU nonsynonymous SNV NM_001137671 exon1 c.T167C p.M56T 0.4864 0.4979 0.5 T 0.0 P -0.945 T 0.0 T 0.0 T Pathogenic 18_14543057_T->G 18 14543057 14543057 T G snp 1545.77 0/1 99 178 107 71 0.4 exonic rs9807633 POTEC AU nonsynonymous SNV NM_001137671 exon1 c.A89C p.H30P 0.288139 0.4544 0.2092 0.4499 0.01 T 0.0 P -0.925 T 0.981 D 0.439 D Pathogenic 18_14543098_C->T 18 14543098 14543098 C T snp 1377.77 0/1 99 139 75 64 0.46 exonic rs11873462 POTEC AU synonymous SNV NM_001137671 exon1 c.G48A p.K16K 0.273762 0.4216 0.2150 0.4882 Uncertain 18_14543139_T->C 18 14543139 14543139 T C snp 863.77 0/1 99 82 42 40 0.49 exonic rs28535987 POTEC AU nonsynonymous SNV NM_001137671 exon1 c.A7G p.T3A 0.878195 0.7718 0.8995 0.7111 1 T 0.0 P -0.993 T 0.0 T 0.0 T Pathogenic 18_14752739_A->T 18 14752739 14752739 A T snp 823.77 0/1 99 61 29 32 0.52 intronic rs45487996 ANKRD30B AU NM_001145029 exon2 c.4261+60A>T 0.0826677 0.1329 Uncertain 18_14752768_G->A 18 14752768 14752768 G A snp 506.77 0/1 99 36 17 19 0.53 intronic rs45620343 ANKRD30B AU NM_001145029 exon3 c.4419-69G>A 0.465455 0.5913 Uncertain 18_14752957_G->A 18 14752957 14752957 G A snp 1740.77 0/1 99 155 80 75 0.48 exonic rs12457503 ANKRD30B AU synonymous SNV NM_001145029 exon3 c.G456A p.L152L 0.519968 0.5883 0.484888 0.5297 0.6025 Uncertain 18_14779969_C->G 18 14779969 14779969 C G snp 566.77 0/1 99 37 11 26 0.7 exonic rs9675365 ANKRD30B AU nonsynonymous SNV NM_001145029 exon11 c.C1431G p.F477L 0.465655 0.4187 0.4174 0.3542 0.79 T 0.0 P -0.903 T 0.286 T 0.041 T Pathogenic 18_14780082_G->A 18 14780082 14780082 G A snp 35.77 0/1 64 8 6 2 0.25 intronic rs11080793 ANKRD30B AU NM_001145029 exon11 c.31602+62G>A 0.427716 0.5764 Uncertain 18_14796214_G->T 18 14796214 14796214 G T snp 516.77 0/1 99 64 37 27 0.42 splicing rs9303863 ANKRD30B AU NM_001145029 exon17 c.47801-5G>T 0.539137 0.4226 0.5255 0.4154 Pathogenic 18_14796443_G->T 18 14796443 14796443 G T snp 54.74 1/1 6 2 0 2 1.0 intronic rs9676173 ANKRD30B AU NM_001145029 exon18 c.47996+29G>T 0.425519 0.5764 0.4588 0.5901 Uncertain 18_14830262_C->T 18 14830262 14830262 C T snp 169.77 0/1 99 22 14 8 0.36 intronic rs777277173 ANKRD30B AU NM_001145029 exon28 c.82963-1119C>T 0.0266 0.0294 Uncertain 18_14837169_T->- 18 14837169 14837169 T - indel 463.73 0/1 99 40 18 22 0.55 intronic rs56391489 ANKRD30B AU NM_001145029 exon29 c.88791-40delT 0.459465 0.4157 0.5415 0.4390 Uncertain 18_14842846_G->A 18 14842846 14842846 G A snp 52.77 0/1 81 38 26 12 0.32 intronic rs34926676 ANKRD30B AU NM_001145029 exon32 c.94477-49G>A 0.0128 0.0112 Uncertain 18_14848820_C->T 18 14848820 14848820 C T snp 1019.77 0/1 99 79 33 46 0.58 exonic rs4090319 ANKRD30B AU nonsynonymous SNV NM_001145029 exon34 c.C2930T p.T977M 0.400759 0.5685 0.6318 0.7476 1 T 1.000 P -0.926 T 0.006 T 0.001 T Pathogenic 18_14848821_G->A 18 14848821 14848821 G A snp 592.77 0/1 99 79 48 31 0.39 exonic rs28555630 ANKRD30B AU synonymous SNV NM_001145029 exon34 c.G2931A p.T977T 0.469649 0.4127 0.3205 0.2388 Uncertain 18_14848935_C->T 18 14848935 14848935 C T snp 232.77 0/1 99 21 11 10 0.48 intronic rs3878726 ANKRD30B AU NM_001145029 exon34 c.100510+7C>T 0.472444 0.4157 0.4889 0.4135 Uncertain 18_14850375_G->A 18 14850375 14850375 G A snp 899.77 0/1 99 66 27 39 0.59 exonic rs3126404 ANKRD30B AU synonymous SNV NM_001145029 exon35 c.G3201A p.L1067L 0.472444 0.4157 0.5318 0.4497 Uncertain 18_14851756_G->A 18 14851756 14851756 G A snp 202.77 0/1 99 92 70 22 0.24 exonic rs9676225 ANKRD30B AU synonymous SNV NM_001145029 exon36 c.G3456A p.T1152T 0.528554 0.4157 0.2273 0.1708 Uncertain 18_14852335_C->A 18 14852335 14852335 C A snp 3049.77 1/1 99 125 0 125 1.0 exonic rs12386087 ANKRD30B AU nonsynonymous SNV NM_001145029 exon36 c.C4035A p.N1345K 0.968251 1 0.9927 1 0.2 T 0.000 P -1.071 T 0.0 T 0.0 T Pathogenic 18_14866250_G->T 18 14866250 14866250 G T snp 83.77 0/1 30 4 1 3 0.75 intergenic rs35608903 ANKRD30B AU Uncertain 18_14866355_T->C 18 14866355 14866355 T C snp 112.77 0/1 99 15 10 5 0.33 intergenic rs1770756 ANKRD30B AU 0.504393 0.4167 Uncertain 18_14866373_G->C 18 14866373 14866373 G C snp 151.77 0/1 99 19 11 8 0.42 intergenic rs1713892 ANKRD30B AU 0.472644 0.4177 Uncertain 18_14866442_G->A 18 14866442 14866442 G A snp 570.77 0/1 99 52 23 29 0.56 intergenic rs75468016 ANKRD30B AU Uncertain 18_14866449_G->A 18 14866449 14866449 G A snp 659.77 0/1 99 60 25 35 0.58 intergenic rs79572304 ANKRD30B AU Uncertain 18_14866465_T->G 18 14866465 14866465 T G snp 672.77 0/1 99 62 25 37 0.6 intergenic rs77587164 ANKRD30B AU Uncertain 18_14866502_C->T 18 14866502 14866502 C T snp 145.77 0/1 99 59 47 12 0.2 intergenic ANKRD30B AU Uncertain 18_14866503_A->G 18 14866503 14866503 A G snp 588.77 0/1 99 59 26 33 0.56 intergenic rs77420911 ANKRD30B AU Uncertain 18_14866532_G->A 18 14866532 14866532 G A snp 111.77 0/1 99 48 38 10 0.21 intergenic rs77706021 ANKRD30B AU Uncertain 18_14866541_G->A 18 14866541 14866541 G A snp 533.77 0/1 99 44 16 28 0.64 intergenic ANKRD30B AU Uncertain 18_14866547_A->G 18 14866547 14866547 A G snp 572.77 0/1 99 40 10 30 0.75 intergenic rs72873757 ANKRD30B AU Uncertain 18_14866566_A->G 18 14866566 14866566 A G snp 399.77 0/1 99 29 9 20 0.69 intergenic ANKRD30B AU Uncertain 18_14866567_T->C 18 14866567 14866567 T C snp 364.77 0/1 99 29 11 18 0.62 intergenic rs78004225 ANKRD30B AU Uncertain 18_14866579_T->C 18 14866579 14866579 T C snp 332.77 0/1 99 22 6 16 0.73 intergenic rs79979456 ANKRD30B AU Uncertain 18_14866583_G->A 18 14866583 14866583 G A snp 189.77 0/1 99 16 6 10 0.63 intergenic rs576144842 ANKRD30B AU 0.000199681 Uncertain 18_14866589_T->A 18 14866589 14866589 T A snp 238.77 0/1 81 14 3 11 0.79 intergenic rs75913281 ANKRD30B AU Uncertain 18_14866596_A->G 18 14866596 14866596 A G snp 187.77 0/1 54 10 2 8 0.8 intergenic rs75392666 ANKRD30B AU Uncertain 18_14866631_A->G 18 14866631 14866631 A G snp 56.74 1/1 6 2 0 2 1.0 intergenic rs76108816 ANKRD30B AU Uncertain 18_15004470_C->T 18 15004470 15004470 C T snp 699.77 0/1 99 69 39 30 0.43 intergenic rs142502162 LINC01443 AU 0.0407348 0.1012 Uncertain 18_15004525_C->T 18 15004525 15004525 C T snp 445.77 0/1 99 47 27 20 0.43 intergenic rs117306905 LINC01443 AU 0.0435304 0.1022 Uncertain 18_15004578_C->A 18 15004578 15004578 C A snp 337.77 0/1 99 37 20 17 0.46 intergenic rs150938604 LINC01443 AU 0.0409345 0.1012 Uncertain 18_15005736_G->A 18 15005736 15005736 G A snp 610.77 1/1 45 20 0 20 1.0 intergenic rs4890719 LINC01443 AU 0.702676 0.7431 Uncertain 18_18534702_T->C 18 18534702 18534702 T C snp 430.77 0/1 99 114 87 27 0.24 intronic rs2663699 ROCK1 AU NM_005406 exon3 c.3399-41T>C 0.2707 0.3626 Uncertain 18_19065494_C->G 18 19065494 19065494 C G snp 1847.77 1/1 99 65 0 65 1.0 intronic rs7234335 GREB1L AU NM_001142966 exon18 c.102101-86C>G 0.979633 1 Uncertain 18_19079537_A->G 18 19079537 19079537 A G snp 339.78 1/1 27 9 0 9 1.0 intronic rs8087553 GREB1L AU NM_001142966 exon22 c.116210-152A>G 0.981629 1 Uncertain 18_19079853_A->G 18 19079853 19079853 A G snp 4545.77 1/1 99 161 0 161 1.0 exonic rs4800747 GREB1L AU synonymous SNV NM_001142966 exon22 c.A3555G p.E1185E 0.98143 1 0.987735 0.9947 1 Uncertain 18_19100517_T->C 18 19100517 19100517 T C snp 2466.77 1/1 99 80 0 80 1.0 intronic rs1395251 GREB1L AU NM_001142966 exon32 c.137169-131T>C 0.991214 1 Uncertain 18_19100758_-->TCT 18 19100758 19100758 - TCT indel 5160.73 1/1 99 116 0 116 1.0 exonic rs10654340 GREB1L AU nonframeshift insertion NM_001142966 exon32 c.5582_5583insTCT p.D1861delinsDL 0.995407 0.999 0.996671 0.9988 1 Uncertain 18_19100854_A->G 18 19100854 19100854 A G snp 438.77 1/1 33 12 0 12 1.0 intronic rs9947441 GREB1L AU NM_001142966 exon32 c.137305+70A>G 0.389177 0.5089 Uncertain 18_19115896_A->T 18 19115896 19115896 A T snp 430.77 1/1 33 13 0 13 1.0 intronic rs4800780 ESCO1 AU NM_052911 exon3 c.5699-106A>T 0.980232 1 Uncertain 18_19119801_C->T 18 19119801 19119801 C T snp 1228.77 1/1 93 47 1 46 0.98 intronic rs1818274 ESCO1 AU NM_052911 exon4 c.9577-79C>T 0.868011 0.9762 Uncertain 18_19119975_AT->- 18 19119975 19119976 AT - indel 1971.73 1/1 99 73 1 72 0.99 splicing rs35031202 ESCO1 AU NM_052911 exon4 c.9667+5_9667+6delAT 0.5627 0.6052 0.6053 0.6602 Pathogenic 18_19153494_C->T 18 19153494 19153494 C T snp 5364.77 1/1 99 191 0 191 1.0 exonic rs973730 ESCO1 AU synonymous SNV NM_052911 exon4 c.G1311A p.T437T 0.867812 0.9762 0.825850 0.8321 0.9709 Uncertain 18_19383993_A->G 18 19383993 19383993 A G snp 1261.77 1/1 90 43 0 43 1.0 intronic rs12605999 MIB1 AD NM_020774 exon10 c.62431+18A>G 0.0321486 0.1518 0.000231 0.0194 0.1893 Uncertain 18_19399738_T->A 18 19399738 19399738 T A snp 50.74 1/1 6 2 0 2 1.0 intronic rs8098807 MIB1 AD NM_020774 exon12 c.78063+131T>A 0.960663 1 Uncertain 18_19408950_C->T 18 19408950 19408950 C T snp 2320.77 1/1 99 92 0 92 1.0 ncRNA_exonic rs9989532 MIR133A1HG AU 0.940296 0.9425 0.951860 0.9617 0.9160 Uncertain 18_19423964_T->- 18 19423964 19423964 T - indel 727.73 1/1 51 17 0 17 1.0 intronic rs3216119 MIB1 AD NM_020774 exon15 c.102508-88delT 0.831869 0.9127 Uncertain 18_19780528_C->- 18 19780528 19780528 C - indel 4095.73 1/1 99 105 0 105 1.0 intronic rs11352746 GATA6 AU,AD NM_005257 exon7 c.29513-90delC 1 1 Uncertain 18_19780858_G->A 18 19780858 19780858 G A snp 216.84 1/1 18 6 0 6 1.0 UTR3 rs1941084 GATA6 AU,AD 0.51857 0.4633 Uncertain 18_19996011_G->A 18 19996011 19996011 G A snp 1444.77 1/1 99 48 0 48 1.0 exonic rs7227477 CTAGE1 AU synonymous SNV NM_172241 exon1 c.C1764T p.L588L 0.494209 0.5655 0.457099 0.4999 0.6152 Uncertain 18_20555219_T->C 18 20555219 20555219 T C snp 1366.77 1/1 96 55 0 55 1.0 intronic rs2336916 RBBP8 AR,AU NM_002894 exon6 c.38368+37T>C 0.915735 0.9256 0.941433 0.9626 0.9196 Uncertain 18_20586245_C->T 18 20586245 20586245 C T snp 197.77 0/1 99 13 4 9 0.69 intronic rs72889626 RBBP8 AR,AU NM_002894 exon16 c.69511-80C>T 0.192692 0.3631 Uncertain 18_20715656_G->A 18 20715656 20715656 G A snp 40.77 0/1 69 10 7 3 0.3 intronic rs113232639 CABLES1 AU 0.346845 0.4821 Uncertain 18_20715729_GGCGGC->- 18 20715729 20715734 GGCGGC - indel 435.73 0/1 99 12 5 7 0.58 exonic CABLES1 AU nonframeshift deletion NM_001100619 exon1 c.3_8del p.1_3del Uncertain 18_20716015_GGCGCCGGC->- 18 20716015 20716023 GGCGCCGGC - indel 1986.73 0/1 99 37 17 20 0.54 exonic rs139352344 CABLES1 AU nonframeshift deletion NM_001100619 exon1 c.289_297del p.97_99del 0.224241 0.244 0.421925 0.6205 0.6316 ID=COSM1611112;OCCURENCE=1(liver) Uncertain 18_20793995_G->A 18 20793995 20793995 G A snp 2282.77 0/1 99 210 114 96 0.46 exonic rs2304301 CABLES1 AU synonymous SNV NM_001100619 exon4 c.G1065A p.P355P 0.038139 0.0456 0.029554 0.0268 0.0452 Uncertain 18_20932384_A->G 18 20932384 20932384 A G snp 116.77 0/1 99 9 5 4 0.44 intronic rs8084251 TMEM241 AU NM_032933 exon3 c.54283+131A>G 0.246605 0.4097 Uncertain 18_20936378_G->A 18 20936378 20936378 G A snp 46.78 0/1 27 3 1 2 0.67 intronic rs34317927 TMEM241 AU NM_032933 exon4 c.58587-179G>A 0.242412 0.4097 Uncertain 18_20953485_C->A 18 20953485 20953485 C A snp 251.77 0/1 99 22 13 9 0.41 intronic rs9944662 TMEM241 AU NM_032933 exon9 c.75705-190C>A 0.253794 0.4097 Uncertain 18_20953720_G->A 18 20953720 20953720 G A snp 1153.77 0/1 99 89 42 47 0.53 exonic rs8099409 TMEM241 AU nonsynonymous SNV NM_032933 exon7 c.C391T p.L131F 0.410543 0.4147 0.488928 0.4377 0.4122 0.3 T 1.000 P -0.923 T 0.0 T 0.001 T Pathogenic 18_20964769_A->G 18 20964769 20964769 A G snp 828.77 1/1 60 26 0 26 1.0 intronic rs8094375 TMEM241 AU NM_032933 exon11 c.86983-184A>G 0.973043 1 Uncertain 18_21017836_T->C 18 21017836 21017836 T C snp 3874.77 1/1 99 136 0 136 1.0 UTR5 rs7226498 TMEM241 AU 0.916933 0.9435 0.940181 0.9249 0.9405 0 D 0.000 P -1.028 T Uncertain 18_21033582_G->C 18 21033582 21033582 G C snp 3243.77 1/1 99 113 1 112 0.99 intronic rs8086258 RIOK3 AU NM_003831 exon1 c.63+116G>C 0.997204 1 Uncertain 18_21044607_G->A 18 21044607 21044607 G A snp 686.77 0/1 99 61 33 28 0.46 intronic rs2291993 RIOK3 AU NM_003831 exon5 c.11189+15G>A 0.285343 0.3948 0.302630 0.3125 0.3966 Uncertain 18_21046250_T->C 18 21046250 21046250 T C snp 908.77 0/1 99 44 12 32 0.73 intronic rs4800486 RIOK3 AU NM_003831 exon6 c.12837+10T>C 0.259585 0.3244 0.162694 0.1776 0.3847 Uncertain 18_21046256_T->- 18 21046256 21046256 T - indel 430.73 0/1 91 39 6 33 0.85 intronic rs34308695 RIOK3 AU NM_003831 exon6 c.12837+16delT 0.292133 0.3323 0.2919 0.4660 Uncertain 18_21055092_A->C 18 21055092 21055092 A C snp 826.77 1/1 60 29 0 29 1.0 intronic rs7235571 RIOK3 AU NM_003831 exon9 c.21668+21A>C 0.919928 0.9435 0.956161 0.9320 0.9374 Uncertain 18_21057420_T->C 18 21057420 21057420 T C snp 46.74 1/1 6 2 0 2 1.0 intronic rs57220112 RIOK3 AU NM_003831 exon11 c.23829+188T>C 0.257388 0.3115 Uncertain 18_21083554_G->A 18 21083554 21083554 G A snp 1805.77 0/1 99 132 53 79 0.6 UTR5 rs118114626 C18orf8 AU 0.0904553 0.2907 0.006830 0.0537 0.3097 Uncertain 18_21084098_T->C 18 21084098 21084098 T C snp 506.77 1/1 39 13 0 13 1.0 intronic rs303759 C18orf8 AU NM_013326 exon2 c.752-236T>C 1 1 Uncertain 18_21088081_T->C 18 21088081 21088081 T C snp 867.77 1/1 63 27 0 27 1.0 intronic rs1652381 C18orf8 AU NM_013326 exon4 c.4423+76T>C 1 1 Uncertain 18_21089320_-->AT 18 21089320 21089320 - AT indel 149.73 0/1 99 12 4 8 0.67 intronic rs10688887 C18orf8 AU NM_013326 exon5 c.5661+77insAT 0.109225 0.2708 Uncertain 18_21100240_C->T 18 21100240 21100240 C T snp 3729.77 1/1 99 128 0 128 1.0 exonic rs1367083 C18orf8 AU synonymous SNV NM_001276342 exon8 c.C780T p.P260P 0.619409 0.8849 0.497847 0.5444 0.9074 Uncertain 18_21103909_T->C 18 21103909 21103909 T C snp 702.77 1/1 54 20 0 20 1.0 intronic rs891387 C18orf8 AU NM_013326 exon11 c.20511-184T>C 0.654752 0.8988 Uncertain 18_21104283_C->T 18 21104283 21104283 C T snp 977.77 0/1 99 84 44 40 0.48 intronic rs3745022 C18orf8 AU NM_013326 exon12 c.20810-109C>T 0.0892572 0.2887 Uncertain 18_21107628_-->TATTGTATTTCT 18 21107628 21107628 - TATTGTATTTCT indel 8061.73 1/1 99 54 0 54 1.0 intronic rs111369676 C18orf8 AU NM_013326 exon14 c.24176-130insTATTGTATTTCT 0.797724 0.8988 Uncertain 18_21109250_T->C 18 21109250 21109250 T C snp 2435.77 1/1 99 86 0 86 1.0 exonic rs1788825 C18orf8 AU synonymous SNV NM_001276342 exon13 c.T1260C p.F420F 0.830471 0.9236 0.736276 0.7199 0.9313 Uncertain 18_21109269_T->C 18 21109269 21109269 T C snp 2352.77 1/1 99 77 0 77 1.0 intronic rs1652375 C18orf8 AU NM_013326 exon15 c.25680+7T>C 0.83107 0.9236 0.736199 0.7214 0.9324 Uncertain 18_21109466_G->T 18 21109466 21109466 G T snp 1733.77 1/1 99 53 0 53 1.0 intronic rs1652376 C18orf8 AU NM_013326 exon16 c.26016-132G>T 0.610224 0.878 Uncertain 18_21109873_CTT->- 18 21109873 21109875 CTT - indel 291.73 0/1 99 9 3 6 0.67 intronic rs58993935 C18orf8 AU NM_013326 exon17 c.26409-118_26409-116delCTT 0.146965 0.1895 Uncertain 18_21111431_G->- 18 21111431 21111431 G - indel 504.73 0/1 99 31 17 14 0.45 intronic rs3835321 C18orf8 AU NM_013326 exon20 c.28006-157delG 0.0836661 0.2837 Uncertain 18_21112206_C->T 18 21112206 21112206 C T snp 2982.77 0/1 99 248 127 121 0.49 exonic rs1805084 NPC1 AR nonsynonymous SNV NM_000271 exon25 c.G3797A p.R1266Q 0.15016 0.1895 0.098032 0.0731 0.2080 0.33 T 0.999 P -1.077 T 0.003 T 0.004 T CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=Niemann-Pick_disease_type_C1|not_specified;CLNREVSTAT=no_assertion_criteria_provided|criteria_provided\x2c_single_submitter;CLNACC=RCV000020233.2|RCV000078483.3;CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet|MedGen;CLNDSDBID=NBK1296:C3179455:257220:ORPHA646|CN169374 Pathogenic 18_21113285_T->C 18 21113285 21113285 T C snp 1615.77 0/1 99 151 76 75 0.5 intronic rs2510344 NPC1 AR NM_000271 exon2 c.1153-33T>C 0.522165 0.6111 0.474473 0.5011 0.6251 Uncertain 18_21113551_A->G 18 21113551 21113551 A G snp 277.77 0/1 99 24 15 9 0.38 intronic rs1652377 NPC1 AR NM_000271 exon2 c.1316+70A>G 0.108626 0.2847 Uncertain 18_21119291_A->G 18 21119291 21119291 A G snp 2139.77 0/1 99 193 97 96 0.5 intronic rs6507720 NPC1 AR NM_000271 exon7 c.7153-27A>G 0.58766 0.6111 0.548285 0.5398 0.6376 Uncertain 18_21119777_G->A 18 21119777 21119777 G A snp 722.77 0/1 99 73 41 32 0.44 exonic rs1140458 NPC1 AR synonymous SNV NM_000271 exon18 c.C2793T p.N931N 0.484026 0.6111 0.442027 0.4902 0.6266 CLINSIG=non-pathogenic;CLNDBN=Niemann-Pick_disease_type_C1;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000020228.2;CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet;CLNDSDBID=NBK1296:C3179455:257220:ORPHA646 Uncertain 18_21120035_T->C 18 21120035 21120035 T C snp 109.77 0/1 99 12 7 5 0.42 intronic rs7239575 NPC1 AR NM_000271 exon8 c.7800+70T>C 0.586661 0.6111 Uncertain 18_21120444_T->C 18 21120444 21120444 T C snp 2356.77 0/1 99 205 110 95 0.46 exonic rs1805082 NPC1 AR nonsynonymous SNV NM_000271 exon17 c.A2572G p.I858V 0.485823 0.6111 0.442719 0.4947 0.6302 0.52 T 1.000 P -0.952 T 0.047 T 0.034 T CLINSIG=non-pathogenic;CLNDBN=Niemann-Pick_disease_type_C1;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000020227.2;CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet;CLNDSDBID=NBK1296:C3179455:257220:ORPHA646 Pathogenic 18_21120869_A->G 18 21120869 21120869 A G snp 56.74 1/1 6 2 0 2 1.0 intronic rs1788821 NPC1 AR NM_000271 exon10 c.8866-162A>G 0.831869 0.9226 Uncertain 18_21123537_A->- 18 21123537 21123537 A - indel 223.73 1/1 10 24 2 22 0.92 splicing rs11299077 NPC1 AR NM_000271 exon12 c.11368+4delA 0.502196 0.5258 0.4575 0.4749 Pathogenic 18_21124801_A->C 18 21124801 21124801 A C snp 74.77 0/1 99 6 3 3 0.5 intronic rs3745023 NPC1 AR NM_000271 exon14 c.12758-122A>C 0.11881 0.1895 Uncertain 18_21124907_-->CC 18 21124907 21124907 - CC indel 670.73 0/1 99 87 53 34 0.39 intronic rs3837910 NPC1 AR NM_000271 exon14 c.12758-16insCC 0.0976438 0.1111 0.085409 Uncertain 18_21124910_C->A 18 21124910 21124910 C A snp 1285.77 0/1 99 98 44 54 0.55 intronic rs3745024 NPC1 AR NM_000271 exon14 c.12758-13C>A 0.0874601 0.2877 0.0459 0.3208 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000078470.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 18_21124945_C->G 18 21124945 21124945 C G snp 3373.77 1/1 99 130 0 130 1.0 exonic rs1788799 NPC1 AR nonsynonymous SNV NM_000271 exon12 c.G1926C p.M642I 0.831669 0.9226 0.734661 0.7177 0.9320 1 T 0.000 P -0.936 T 0.0 T 0.0 T CLINSIG=non-pathogenic;CLNDBN=Niemann-Pick_disease_type_C1;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000020225.2;CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet;CLNDSDBID=NBK1296:C3179455:257220:ORPHA646 Pathogenic 18_21127910_C->T 18 21127910 21127910 C T snp 1877.77 0/1 99 164 79 85 0.52 intronic rs2435307 NPC1 AR NM_000271 exon15 c.15804-59C>T 0.491014 0.5903 Uncertain 18_21136135_G->A 18 21136135 21136135 G A snp 1089.77 0/1 99 90 47 43 0.48 intronic rs74486453 NPC1 AR NM_000271 exon18 c.24041-71G>A 0.0133786 0.0635 Uncertain 18_21166329_T->G 18 21166329 21166329 T G snp 269.77 0/1 99 34 19 15 0.44 UTR5 rs2303880 NPC1 AR 0.173123 0.3363 0.048356 0.075 0.3028 Uncertain 18_21192171_G->A 18 21192171 21192171 G A snp 1186.77 0/1 99 108 59 49 0.45 intronic ANKRD29 AU NM_173505 exon2 c.10965+17G>A Uncertain 18_21192261_G->T 18 21192261 21192261 G T snp 2093.77 1/1 99 73 0 73 1.0 intronic rs1652366 ANKRD29 AU NM_173505 exon2 c.10965+107G>T 0.729433 0.878 Uncertain 18_21209988_G->A 18 21209988 21209988 G A snp 610.77 0/1 99 33 9 24 0.73 intronic rs11660305 ANKRD29 AU NM_173505 exon5 c.28726+73G>A 0.442492 0.3175 Uncertain 18_21328088_G->T 18 21328088 21328088 G T snp 1388.77 0/1 99 105 49 56 0.53 intronic rs9955745 LAMA3 AR NM_001302996 exon3 c.58377+64G>T 0.265176 0.5516 Uncertain 18_21333518_T->C 18 21333518 21333518 T C snp 65.77 0/1 94 10 7 3 0.3 intronic rs7230939 LAMA3 AR NM_001302996 exon6 c.64037-166T>C 0.276957 0.5546 Uncertain 18_21338276_C->T 18 21338276 21338276 C T snp 1378.77 1/1 99 49 1 48 0.98 intronic rs6507894 LAMA3 AR NM_001302996 exon7 c.68712-83C>T 0.717851 0.7302 Uncertain 18_21338516_C->- 18 21338516 21338516 C - indel 1103.73 1/1 93 33 0 33 1.0 intronic rs11308832 LAMA3 AR NM_001302996 exon7 c.68828+41delC 1 1 0.999914 1.0000 0.9999 Uncertain 18_21343354_A->G 18 21343354 21343354 A G snp 1038.77 0/1 99 120 73 47 0.39 intronic rs7232856 LAMA3 AR NM_001302996 exon8 c.73721-14A>G 0.266374 0.5486 0.138525 0.1618 0.5839 Uncertain 18_21353351_C->T 18 21353351 21353351 C T snp 347.77 0/1 99 35 20 15 0.43 intronic rs6507907 LAMA3 AR NM_001302996 exon9 c.83813-109C>T 0.275559 0.5456 Uncertain 18_21393229_-->T 18 21393229 21393229 - T indel 183.75 1/1 24 16 0 16 1.0 intronic rs11420756 LAMA3 AR NM_001127717 exon14 c.123420+162insT 0.696286 0.7956 Uncertain 18_21395358_G->C 18 21395358 21395358 G C snp 2456.77 1/1 99 76 0 76 1.0 intronic rs2155841 LAMA3 AR NM_001127717 exon17 c.125784-73G>C 0.824481 0.8065 Uncertain 18_21396557_C->T 18 21396557 21396557 C T snp 1308.77 0/1 99 123 67 56 0.46 intronic rs12608087 LAMA3 AR NM_001127717 exon18 c.126804+106C>T 0.228235 0.5417 Uncertain 18_21400005_A->C 18 21400005 21400005 A C snp 730.77 0/1 99 54 26 28 0.52 intronic rs7244406 LAMA3 AR NM_001127717 exon19 c.130314+44A>C 0.345847 0.2014 0.517020 0.4971 0.1886 Uncertain 18_21400028_G->T 18 21400028 21400028 G T snp 1132.77 1/1 84 33 0 33 1.0 intronic rs6507956 LAMA3 AR NM_001127717 exon19 c.130314+67G>T 0.825679 0.8065 Uncertain 18_21404334_A->G 18 21404334 21404334 A G snp 2473.77 1/1 99 86 0 86 1.0 intronic rs1941521 LAMA3 AR NM_001127717 exon21 c.134739-52A>G 0.720447 0.8065 Uncertain 18_21413869_T->C 18 21413869 21413869 T C snp 2621.77 1/1 99 96 1 95 0.99 exonic rs9962023 LAMA3 AR synonymous SNV NM_198129 exon24 c.T2901C p.A967A 0.624401 0.7431 0.649544 0.6631 0.7650 Uncertain 18_21414100_G->A 18 21414100 21414100 G A snp 197.77 0/1 99 14 5 9 0.64 intronic rs1109949 LAMA3 AR NM_001127717 exon24 c.144305+148G>A 0.339657 0.1746 Uncertain 18_21414110_G->A 18 21414110 21414110 G A snp 312.78 1/1 24 11 0 11 1.0 intronic rs1109950 LAMA3 AR NM_001127717 exon24 c.144305+158G>A 0.827875 0.8056 Uncertain 18_21437721_A->G 18 21437721 21437721 A G snp 2214.77 0/1 99 158 73 85 0.54 intronic rs867448 LAMA3 AR NM_001127717 exon33 c.168160-86A>G 0.344449 0.1736 Uncertain 18_21437931_G->C 18 21437931 21437931 G C snp 2620.77 0/1 99 222 110 112 0.5 exonic rs867449 LAMA3 AR synonymous SNV NM_198129 exon33 c.G4260C p.G1420G 0.34365 0.1736 0.517283 0.4962 0.1594 Uncertain 18_21441717_C->T 18 21441717 21441717 C T snp 1711.77 0/1 99 148 78 70 0.47 exonic rs12965685 LAMA3 AR synonymous SNV NM_198129 exon35 c.C4530T p.P1510P 0.340655 0.1746 0.503146 0.4995 0.1620 Uncertain 18_21453118_T->G 18 21453118 21453118 T G snp 3330.77 0/1 99 250 123 127 0.51 exonic rs138914132 LAMA3 AR nonsynonymous SNV NM_000227 exon1 c.T110G p.F37C 0.0101837 0.0258 0.000154 0.0068 0.0381 0.45 T 1.000 N -0.924 T 0.947 T 0.319 D Pathogenic 18_21483218_A->T 18 21483218 21483218 A T snp 135.03 1/1 12 4 0 4 1.0 intronic rs891277 LAMA3 AR NM_001127717 exon48 c.213442+129A>T 1 1 Uncertain 18_21495483_T->C 18 21495483 21495483 T C snp 392.77 0/1 99 22 8 14 0.64 intronic rs1541836 LAMA3 AR NM_001127717 exon58 c.225739+97T>C 0.521166 0.3641 Uncertain 18_21511089_A->G 18 21511089 21511089 A G snp 6197.77 1/1 99 232 0 232 1.0 exonic rs1154233 LAMA3 AR nonsynonymous SNV NM_000227 exon28 c.A3673G p.S1225G 1 1 1.0000 1 0.49 T 0.0 P -0.965 T 0.0 T 0.001 T Pathogenic 18_21511172_G->C 18 21511172 21511172 G C snp 2946.77 1/1 99 101 0 101 1.0 intronic rs1258107 LAMA3 AR NM_001127717 exon64 c.241518+7G>C 0.948882 0.997 0.960787 0.9732 0.9999 Uncertain 18_21519222_C->T 18 21519222 21519222 C T snp 2434.77 0/1 99 189 87 102 0.54 exonic rs141164795 LAMA3 AR synonymous SNV NM_000227 exon31 c.C4071T p.S1357S 0.00499201 0.0218 0.000154 0.0029 0.0324 Uncertain 18_21526087_C->T 18 21526087 21526087 C T snp 406.77 0/1 99 44 26 18 0.41 intronic rs2288592 LAMA3 AR NM_001127717 exon69 c.256460-20C>T 0.359625 0.1776 0.546440 0.5363 0.1623 Uncertain 18_21529722_G->A 18 21529722 21529722 G A snp 450.77 0/1 99 27 11 16 0.59 intronic rs2241643 LAMA3 AR NM_001127717 exon70 c.260081-6G>A 0.359026 0.1776 0.544595 0.5377 0.1629 Uncertain 18_21531512_T->C 18 21531512 21531512 T C snp 434.77 0/1 99 26 13 13 0.5 intronic rs2288593 LAMA3 AR NM_001127717 exon72 c.262000-135T>C 0.297923 0.5804 Uncertain 18_21531906_C->T 18 21531906 21531906 C T snp 402.77 0/1 99 19 7 12 0.63 intronic rs11873358 LAMA3 AR NM_001127717 exon72 c.262094+165C>T 0.360623 0.1766 Uncertain 18_21534701_C->A 18 21534701 21534701 C A snp 203.77 0/1 99 29 22 7 0.24 UTR3 rs1051149 LAMA3 AR 0.359625 0.1776 Uncertain 18_21534703_C->T 18 21534703 21534703 C T snp 201.77 0/1 99 28 21 7 0.25 UTR3 rs1051150 LAMA3 AR 0.359625 0.1776 Uncertain 18_21644242_A->T 18 21644242 21644242 A T snp 263.77 0/1 99 23 12 11 0.48 intronic rs2298596 TTC39C AU NM_001135993 exon2 c.49317+90A>T 0.0501198 0.1925 Uncertain 18_21662816_A->C 18 21662816 21662816 A C snp 3325.77 1/1 99 110 0 110 1.0 intronic rs2305024 TTC39C AU NM_001135993 exon6 c.68041-60A>C 0.753395 0.7837 Uncertain 18_21663141_C->A 18 21663141 21663141 C A snp 54.74 1/1 6 2 0 2 1.0 intronic rs9304423 TTC39C AU NM_001135993 exon6 c.68210+96C>A 0.966054 0.9395 Uncertain 18_21693671_G->A 18 21693671 21693671 G A snp 5177.77 1/1 99 192 0 192 1.0 intronic rs894931 TTC39C AU NM_001292030 exon1 c.63+42G>A 0.989018 1 0.9992 1 Uncertain 18_21694618_G->A 18 21694618 21694618 G A snp 6577.77 1/1 99 240 0 240 1.0 intronic rs4800176 TTC39C AU NM_001135993 exon7 c.99776+7G>A 1 1 0.999923 1.0000 1 Uncertain 18_21696599_A->C 18 21696599 21696599 A C snp 554.77 1/1 42 19 0 19 1.0 intronic rs28582690 TTC39C AU NM_001135993 exon8 c.103253-1489A>C 0.449081 0.4087 Uncertain 18_21698540_C->T 18 21698540 21698540 C T snp 2955.77 1/1 99 112 0 112 1.0 intronic rs8083625 TTC39C AU NM_001135993 exon8 c.103361+344C>T 0.266374 0.1587 Uncertain 18_21698619_T->- 18 21698619 21698619 T - indel 209.73 1/1 28 22 0 22 1.0 intronic rs10537168 TTC39C AU NM_001135993 exon8 c.103361+423delT 0.495607 0.4603 Uncertain 18_21703649_A->G 18 21703649 21703649 A G snp 178.9 1/1 15 5 0 5 1.0 intronic rs9956079 TTC39C AU NM_001135993 exon9 c.108962-148A>G 0.991214 1 Uncertain 18_21708999_G->A 18 21708999 21708999 G A snp 1350.77 1/1 96 48 0 48 1.0 intronic rs3816822 TTC39C AU NM_001135993 exon11 c.114112+52G>A 0.165735 0.1528 0.167079 0.1749 0.1862 Uncertain 18_21710321_C->T 18 21710321 21710321 C T snp 3863.77 1/1 99 135 0 135 1.0 exonic rs12970083 TTC39C AU synonymous SNV NM_001292030 exon7 c.C642T p.N214N 0.991613 1 0.991926 0.9974 1 Uncertain 18_21714222_TTTT->- 18 21714222 21714225 TTTT - indel 370.74 1/1 27 9 0 9 1.0 UTR3 TTC39C AU Uncertain 18_21739725_T->C 18 21739725 21739725 T C snp 4678.77 1/1 99 161 1 160 0.99 exonic rs1049684 CABYR AU synonymous SNV NM_138643 exon3 c.T537C p.P179P 0.471246 0.4444 0.417884 0.4195 0.4814 Uncertain 18_21751296_G->A 18 21751296 21751296 G A snp 607.77 1/1 45 16 0 16 1.0 intronic rs12455391 OSBPL1A AU NM_001242508 exon6 c.8230-76G>A 0.199281 0.373 Uncertain 18_21938384_T->C 18 21938384 21938384 T C snp 697.77 1/1 51 24 0 24 1.0 intronic rs7226913 OSBPL1A AU NM_080597 exon25 c.203713-8471T>C 0.707668 0.8403 Uncertain 18_21938396_T->C 18 21938396 21938396 T C snp 897.77 1/1 66 29 0 29 1.0 intronic rs7226922 OSBPL1A AU NM_080597 exon25 c.203713-8459T>C 0.739217 0.8403 Uncertain 18_21938658_T->G 18 21938658 21938658 T G snp 1112.77 1/1 81 39 0 39 1.0 intronic rs7227401 OSBPL1A AU NM_080597 exon25 c.203713-8197T>G 0.74381 0.8403 Uncertain 18_21946572_T->A 18 21946572 21946572 T A snp 1725.77 1/1 87 67 1 66 0.99 intronic rs656487 OSBPL1A AU NM_080597 exon25 c.203713-283T>A 0.673522 0.7589 Uncertain 18_22008913_C->T 18 22008913 22008913 C T snp 1547.77 1/1 99 54 0 54 1.0 intronic rs582358 IMPACT AU NM_018439 exon3 c.2165+28C>T 0.86901 0.6607 0.924419 0.9030 0.6627 Uncertain 18_22010421_C->T 18 22010421 22010421 C T snp 1119.77 1/1 81 38 0 38 1.0 intronic rs9783924 IMPACT AU NM_018439 exon4 c.3628+73C>T 0.639177 0.6111 Uncertain 18_22017752_C->A 18 22017752 22017752 C A snp 101.28 1/1 9 4 0 4 1.0 intronic rs1941814 IMPACT AU NM_018439 exon5 c.11198-166C>A 0.789537 0.6419 Uncertain 18_22020543_C->G 18 22020543 22020543 C G snp 3160.77 1/1 99 122 0 122 1.0 exonic rs677688 IMPACT AU nonsynonymous SNV NM_018439 exon6 c.C451G p.L151V 0.871206 0.6607 0.926419 0.9035 0.6615 0.38 T 0.0 P -1.026 T 0.0 T 0.0 T Pathogenic 18_22030600_C->T 18 22030600 22030600 C T snp 46.74 1/1 6 2 0 2 1.0 intronic rs11662233 IMPACT AU NM_018439 exon11 c.24022-142C>T 0.0672923 0.0357 Uncertain 18_22056615_C->T 18 22056615 22056615 C T snp 120.77 0/1 69 8 3 5 0.63 intronic rs17259800 HRH4 AU NM_001160166 exon2 c.16018-95C>T 0.253195 0.4226 Uncertain 18_22056766_C->T 18 22056766 22056766 C T snp 990.77 0/1 99 114 71 43 0.38 exonic rs11665084 HRH4 AU nonsynonymous SNV NM_021624 exon3 c.C413T p.A138V 0.0571086 0.0347 0.073120 0.0799 0.0324 1 T 1.000 P -1.072 T 0.167 T 0.119 T Pathogenic 18_22056970_A->G 18 22056970 22056970 A G snp 2114.77 0/1 99 220 130 90 0.41 exonic rs11662595 HRH4 AU nonsynonymous SNV NM_021624 exon3 c.A617G p.H206R 0.0626997 0.0347 0.076119 0.0826 0.0326 1 T 0.0 P -1.042 T 0.001 T 0.001 T Pathogenic 18_22804244_T->C 18 22804244 22804244 T C snp 396.77 1/1 30 11 0 11 1.0 intronic rs4129657 ZNF521 AU NM_015461 exon5 c.161633-64T>C 0.360224 0.5079 Uncertain 18_23872238_A->C 18 23872238 23872238 A C snp 1046.77 0/1 99 118 72 46 0.39 exonic rs200126045 TAF4B AR nonsynonymous SNV NM_005640 exon8 c.A1619C p.E540A 0.000399361 0.002 0.000166 0.0004 0.0052 1 T 1 N -1.002 T 0.0 T 0.0 T Pathogenic 18_23873463_T->C 18 23873463 23873463 T C snp 1095.77 1/1 78 50 0 50 1.0 exonic rs1677016 TAF4B AR synonymous SNV NM_005640 exon9 c.T1800C p.N600N 0.507987 0.7996 0.455129 0.5906 0.8325 Uncertain 18_23875336_T->A 18 23875336 23875336 T A snp 894.77 1/1 66 27 0 27 1.0 intronic rs1382260 TAF4B AR NM_001293725 exon9 c.66598+1841T>A 0.919329 0.9891 Uncertain 18_23901222_C->T 18 23901222 23901222 C T snp 532.77 0/1 99 55 33 22 0.4 intronic TAF4B AR NM_001293725 exon11 c.94267+58C>T Uncertain 18_24039489_A->C 18 24039489 24039489 A C snp 349.78 1/1 27 9 0 9 1.0 intronic rs752856 KCTD1 AD NM_001136205 exon2 c.3877-94A>C 0.924321 0.9504 Uncertain 18_24039965_T->- 18 24039965 24039965 T - indel 802.73 1/1 72 26 0 26 1.0 intronic rs3835044 KCTD1 AD NM_001136205 exon2 c.4183+76delT 0.751198 0.9365 Uncertain 18_24436519_A->G 18 24436519 24436519 A G snp 643.77 0/1 99 53 31 22 0.42 intronic rs68006382 AQP4 AU NM_004028 exon1 c.279+66A>G 0.23722 0.4067 Uncertain 18_24441215_C->T 18 24441215 24441215 C T snp 1797.77 0/1 99 146 73 73 0.5 exonic rs1839318 AQP4 AU synonymous SNV NM_001650 exon3 c.G492A p.L164L 0.0411342 0.004 0.022374 0.0300 0.0025 Uncertain 18_24442227_C->T 18 24442227 24442227 C T snp 1787.77 0/1 99 161 82 79 0.49 exonic rs72557968 AQP4 AU synonymous SNV NM_001650 exon2 c.G366A p.Q122Q 0.0315495 0.004 0.015378 0.0272 0.0025 Uncertain 18_24445433_T->C 18 24445433 24445433 T C snp 474.77 0/1 99 30 15 15 0.5 ncRNA_intronic rs3875089 AQP4-AS1 AU 0.163738 0.005 Uncertain 18_24445627_C->A 18 24445627 24445627 C A snp 2525.77 0/1 99 246 136 110 0.45 exonic rs190801689 AQP4 AU synonymous SNV NM_001650 exon1 c.G27T p.R9R 0.000798722 0.004 0.0003 0.0035 Uncertain 18_24524561_A->T 18 24524561 24524561 A T snp 112.77 0/1 99 9 4 5 0.56 intronic rs16943019 CHST9 AU NM_031422 exon2 c.28108+231A>T 0.130791 0.2034 Uncertain 18_24603853_T->A 18 24603853 24603853 T A snp 430.77 1/1 33 13 0 13 1.0 intronic rs71353424 CHST9 AU NM_031422 exon3 c.107857-226T>A 0.131789 0.2302 Uncertain 18_24628305_C->T 18 24628305 24628305 C T snp 59.74 1/1 6 3 0 3 1.0 intronic rs12458504 CHST9 AU NM_031422 exon4 c.132206-123C>T 0.237021 0.2817 Uncertain 18_24628679_A->T 18 24628679 24628679 A T snp 937.77 1/1 69 26 0 26 1.0 intronic rs12456126 CHST9 AU NM_031422 exon4 c.132245+212A>T 0.236222 0.2788 Uncertain 18_25543387_G->A 18 25543387 25543387 G A snp 697.77 0/1 99 54 24 30 0.56 exonic rs1041985 CDH2 AU synonymous SNV NM_001792 exon15 c.C2448T p.A816A 0.327476 0.4216 0.267184 0.3339 0.4133 Uncertain 18_25562831_C->T 18 25562831 25562831 C T snp 105.77 0/1 99 14 10 4 0.29 intronic rs8092870 CDH2 AU NM_001792 exon3 c.30791-76C>T 0.241613 0.1657 Uncertain 18_25565082_A->G 18 25565082 25565082 A G snp 4629.77 1/1 99 174 0 174 1.0 exonic rs1220144 CDH2 AU synonymous SNV NM_001792 exon13 c.T2091C p.R697R 0.990016 1 0.990005 0.9971 1 Uncertain 18_25568716_T->C 18 25568716 25568716 T C snp 83.77 0/1 69 5 2 3 0.6 intronic rs80084416 CDH2 AU NM_001792 exon6 c.36514+86T>C 0.00239617 0.0119 Uncertain 18_25570228_G->C 18 25570228 25570228 G C snp 6630.77 1/1 99 235 0 235 1.0 exonic rs1628684 CDH2 AU synonymous SNV NM_001792 exon10 c.C1431G p.P477P 0.99361 1 0.993618 0.9982 1 Uncertain 18_25572837_G->A 18 25572837 25572837 G A snp 2247.77 1/1 99 81 0 81 1.0 intronic rs1662733 CDH2 AU NM_001792 exon8 c.40688+33G>A 0.990216 1 0.990158 0.9971 1 Uncertain 18_25573308_C->T 18 25573308 25573308 C T snp 1568.77 1/1 99 44 0 44 1.0 intronic rs1662734 CDH2 AU NM_001792 exon9 c.41347-155C>T 0.98742 1 Uncertain 18_25573622_G->C 18 25573622 25573622 G C snp 2209.77 1/1 99 68 0 68 1.0 intronic rs2957286 CDH2 AU NM_001792 exon9 c.41485+21G>C 0.99401 1 0.994541 0.9985 1 Uncertain 18_28586964_A->G 18 28586964 28586964 A G snp 756.77 0/1 99 114 75 39 0.34 exonic rs1313586 DSC3 AR synonymous SNV NM_024423 exon12 c.T1797C p.P599P 0.594249 0.7917 0.469476 0.4109 0.7327 Uncertain 18_28588537_C->T 18 28588537 28588537 C T snp 883.77 0/1 99 78 44 34 0.44 intronic rs1313587 DSC3 AR NM_024423 exon8 c.14056+46C>T 0.342252 0.6141 0.257767 0.2748 0.5812 Uncertain 18_28598867_TG->- 18 28598867 28598868 TG - indel 699.73 1/1 48 18 0 18 1.0 intronic rs374940241 DSC3 AR NM_024423 exon10 c.24331+101_24331+102delTG 0.571086 0.8819 Uncertain 18_28605715_A->T 18 28605715 28605715 A T snp 1085.77 1/1 78 41 1 40 0.98 intronic rs202439 DSC3 AR NM_024423 exon13 c.31290-10A>T 0.572484 0.8839 0.418333 0.5045 0.8946 Uncertain 18_28610877_A->C 18 28610877 28610877 A C snp 157.77 0/1 51 7 2 5 0.71 intronic rs2850324 DSC3 AR NM_024423 exon15 c.36503-61A>C 0.144768 0.2054 Uncertain 18_28610887_A->G 18 28610887 28610887 A G snp 101.77 0/1 99 10 6 4 0.4 intronic rs276939 DSC3 AR NM_024423 exon15 c.36503-51A>G 0.453075 0.6806 0.338050 Uncertain 18_28610901_-->A 18 28610901 28610901 - A indel 540.73 1/1 51 17 0 17 1.0 intronic rs34818241 DSC3 AR NM_024423 exon15 c.36503-37insA 0.612021 0.8859 0.455819 0.5201 0.8886 Uncertain 18_28610988_C->T 18 28610988 28610988 C T snp 736.77 0/1 99 117 79 38 0.32 exonic rs276938 DSC3 AR nonsynonymous SNV NM_024423 exon3 c.G305A p.R102K 0.435503 0.6776 0.327387 0.3948 0.7008 0.25 T 0.0 P -0.966 T 0.0 T 0.004 T Pathogenic 18_28611061_A->T 18 28611061 28611061 A T snp 951.77 0/1 99 148 101 47 0.32 exonic rs276937 DSC3 AR nonsynonymous SNV NM_024423 exon3 c.T232A p.S78T 0.434904 0.6835 0.325158 0.3937 0.7053 0.33 T 0.000 P -0.974 T 0.627 T 0.344 P Pathogenic 18_28611139_A->C 18 28611139 28611139 A C snp 1631.77 1/1 99 63 1 62 0.98 splicing rs276936 DSC3 AR NM_024423 exon15 c.36703+1A>C 1 1 0.999923 1.0000 1 1.0 P Pathogenic 18_28622524_C->T 18 28622524 28622524 C T snp 1048.77 0/1 99 127 75 52 0.41 intronic rs276924 DSC3 AR NM_024423 exon17 c.48122-33C>T 0.389976 0.4167 0.271299 0.4379 0.4218 Uncertain 18_28647935_T->A 18 28647935 28647935 T A snp 440.77 0/1 99 38 18 20 0.53 UTR3 rs77431927 DSC2 AR,AD 0.00519169 0.0169 0.0045 0.0219 Uncertain 18_28659724_T->C 18 28659724 28659724 T C snp 474.77 1/1 36 13 0 13 1.0 intronic rs1658128 DSC2 AR,AD NM_004949 exon7 c.11538-88T>C 0.996006 1 Uncertain 18_28662776_G->A 18 28662776 28662776 G A snp 141.03 1/1 12 4 0 4 1.0 intronic rs1790702 DSC2 AR,AD NM_004949 exon10 c.14617-115G>A 0.380391 0.5605 Uncertain 18_28666526_-->TAA 18 28666526 28666526 - TAA indel 4243.73 1/1 99 69 0 69 1.0 intronic rs35717505 DSC2 AR,AD NM_004949 exon11 c.18264-12insTAA 0.996006 1 0.996725 0.9992 0.9999 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000039446.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 18_28666826_T->C 18 28666826 28666826 T C snp 419.77 0/1 99 21 8 13 0.62 intronic rs17799745 DSC2 AR,AD NM_004949 exon11 c.18431+121T>C 0.149361 0.1905 Uncertain 18_28667898_G->A 18 28667898 28667898 G A snp 74.77 0/1 99 6 3 3 0.5 intronic rs189476020 DSC2 AR,AD NM_004949 exon12 c.19502+122G>A 0.00139776 0.0069 Uncertain 18_28669667_A->T 18 28669667 28669667 A T snp 72.77 0/1 67 5 2 3 0.6 intronic rs201790482 DSC2 AR,AD NM_004949 exon13 c.21283+110A>T Uncertain 18_28673565_T->C 18 28673565 28673565 T C snp 1698.77 0/1 99 151 77 74 0.49 exonic rs12954874 DSC2 AR,AD synonymous SNV NM_024422 exon2 c.A111G p.L37L 0.123602 0.1399 0.107104 0.1127 0.1332 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter|criteria_provided\x2c_single_submitter;CLNACC=RCV000039403.2|RCV000124790.1;CLNDSDB=MedGen|MedGen;CLNDSDBID=CN169374|CN221809 Uncertain 18_28711519_C->T 18 28711519 28711519 C T snp 3463.77 1/1 99 122 0 122 1.0 ncRNA_intronic rs1789072 DSCAS AU 0.591653 0.5129 0.677533 0.7466 0.5232 Uncertain 18_28719674_A->G 18 28719674 28719674 A G snp 1036.77 1/1 75 38 0 38 1.0 ncRNA_intronic rs1789043 DSCAS AU 0.740815 0.5198 0.826201 0.8185 0.5369 Uncertain 18_28721882_T->C 18 28721882 28721882 T C snp 110.78 0/1 25 5 1 4 0.8 ncRNA_intronic rs12455973 DSCAS AU 0.345647 0.5665 Uncertain 18_28721913_C->T 18 28721913 28721913 C T snp 258.77 0/1 99 15 6 9 0.6 ncRNA_intronic rs12458870 DSCAS AU 0.344649 0.5665 0.259769 0.2613 0.5563 Uncertain 18_28721922_G->A 18 28721922 28721922 G A snp 300.77 0/1 99 19 9 10 0.53 ncRNA_intronic rs12458919 DSCAS AU 0.344848 0.5665 0.256769 0.2621 0.5571 Uncertain 18_28722039_G->A 18 28722039 28722039 G A snp 1662.77 0/1 99 124 57 67 0.54 exonic rs2577075 DSC1 AU synonymous SNV NM_004948 exon9 c.C1183T p.L395L 0.344649 0.5655 0.259880 0.2591 0.5602 Uncertain 18_28722103_T->C 18 28722103 28722103 T C snp 1757.77 0/1 99 131 55 76 0.58 exonic rs2577074 DSC1 AU synonymous SNV NM_004948 exon9 c.A1119G p.L373L 0.344649 0.5655 0.260034 0.2591 0.5601 Uncertain 18_28723596_G->C 18 28723596 28723596 G C snp 329.77 0/1 99 29 16 13 0.45 ncRNA_intronic rs2577072 DSCAS AU 0.346645 0.5685 0.261458 0.2664 0.5605 Uncertain 18_28723832_G->A 18 28723832 28723832 G A snp 647.77 0/1 99 43 18 25 0.58 ncRNA_intronic rs12454773 DSCAS AU 0.334665 0.5685 Uncertain 18_28723835_C->T 18 28723835 28723835 C T snp 572.77 0/1 99 38 16 22 0.58 ncRNA_intronic rs12454734 DSCAS AU 0.345647 0.5685 Uncertain 18_28728384_C->T 18 28728384 28728384 C T snp 190.77 0/1 99 26 17 9 0.35 ncRNA_intronic rs2577067 DSCAS AU 0.632987 0.8115 Uncertain 18_28728411_C->T 18 28728411 28728411 C T snp 756.77 0/1 99 59 31 28 0.47 ncRNA_intronic rs3213883 DSCAS AU 0.297125 0.5675 0.202061 0.2435 0.5613 Uncertain 18_28728693_-->A 18 28728693 28728693 - A indel 338.73 0/1 99 38 14 24 0.63 ncRNA_intronic rs3217442 DSCAS AU 0.270966 0.4851 Uncertain 18_28734749_A->G 18 28734749 28734749 A G snp 1865.77 0/1 99 158 76 82 0.52 exonic rs2249810 DSC1 AU synonymous SNV NM_004948 exon5 c.T615C p.Y205Y 0.478634 0.6657 0.474166 0.5621 0.6570 Uncertain 18_28737160_G->A 18 28737160 28737160 G A snp 46.77 0/1 33 3 1 2 0.67 ncRNA_intronic rs2246737 DSCAS AU 0.49381 0.6647 Uncertain 18_28737198_C->T 18 28737198 28737198 C T snp 110.77 0/1 99 8 4 4 0.5 ncRNA_intronic rs2246736 DSCAS AU 0.494209 0.6667 Uncertain 18_28737299_T->G 18 28737299 28737299 T G snp 811.77 0/1 99 77 40 37 0.48 ncRNA_intronic rs2118342 DSCAS AU 0.583466 0.8125 0.549054 0.6527 0.8041 Uncertain 18_28935375_C->T 18 28935375 28935375 C T snp 762.77 1/1 57 23 0 23 1.0 ncRNA_intronic rs8099566 DSG1-AS1 AU 0.842652 0.9812 Uncertain 18_28966518_G->C 18 28966518 28966518 G C snp 225.84 1/1 18 7 0 7 1.0 ncRNA_intronic rs1460597 DSG1-AS1 AU 0.720647 0.8839 Uncertain 18_28968371_G->A 18 28968371 28968371 G A snp 5147.77 1/1 99 193 0 193 1.0 exonic rs16959856 DSG4 AR synonymous SNV NM_177986 exon4 c.G258A p.R86R 0.720647 0.8839 0.694325 0.7453 0.9020 Uncertain 18_28968959_C->T 18 28968959 28968959 C T snp 3197.84 1/1 99 114 0 114 1.0 exonic rs9956865 DSG4 AR synonymous SNV NM_177986 exon5 c.C495T p.S165S 0.804912 0.9375 0.778760 0.7743 0.9558 Uncertain 18_28969008_C->T 18 28969008 28969008 C T snp 1383.77 1/1 99 47 0 47 1.0 ncRNA_intronic rs16959863 DSG1-AS1 AU 0.715855 0.8839 0.688557 0.7436 0.9013 Uncertain 18_28986333_A->C 18 28986333 28986333 A C snp 2191.77 1/1 99 75 0 75 1.0 exonic rs4799570 DSG4 AR nonsynonymous SNV NM_177986 exon12 c.A1930C p.I644L 0.965855 1 0.924343 0.9203 0.9998 1 T 0.000 P -0.968 T 0.0 T 0.0 T Pathogenic 18_28993183_A->G 18 28993183 28993183 A G snp 8005.77 1/1 99 250 0 250 1.0 exonic rs12960081 DSG4 AR synonymous SNV NM_177986 exon16 c.A2748G p.P916P 0.393371 0.5139 0.391742 0.4430 0.5208 Uncertain 18_28993501_C->A 18 28993501 28993501 C A snp 2997.77 1/1 99 103 0 103 1.0 exonic rs7234288 DSG4 AR synonymous SNV NM_177986 exon16 c.C3066A p.P1022P 0.743211 0.8988 0.721932 0.7239 0.8865 Uncertain 18_29027745_C->T 18 29027745 29027745 C T snp 209.77 0/1 99 22 14 8 0.36 UTR5 rs10084010 DSG3 AU 0.195487 0.1419 Uncertain 18_29027757_C->T 18 29027757 29027757 C T snp 257.77 0/1 99 32 22 10 0.31 UTR5 rs8085523 DSG3 AU 0.294728 0.1419 Uncertain 18_29027771_C->T 18 29027771 29027771 C T snp 345.77 0/1 99 46 30 16 0.35 UTR5 rs8085532 DSG3 AU 0.294728 0.1419 0.275296 Uncertain 18_29036316_A->G 18 29036316 29036316 A G snp 380.77 0/1 99 34 15 19 0.56 intronic rs3848485 DSG3 AU NM_001944 exon2 c.8562-86A>G 0.303115 0.1468 Uncertain 18_29055957_A->G 18 29055957 29055957 A G snp 3460.77 1/1 99 115 0 115 1.0 exonic rs1380866 DSG3 AU nonsynonymous SNV NM_001944 exon16 c.A2734G p.T912A 0.999201 1 0.998155 0.9985 1 0.33 T 0.0 P -1.029 T 0.0 T 0.0 T Pathogenic 18_29078121_G->C 18 29078121 29078121 G C snp 192.77 0/1 99 13 5 8 0.62 UTR5 rs149048465 DSG2 AU,AD 0.00738818 0.0298 Uncertain 18_29098323_G->A 18 29098323 29098323 G A snp 1437.77 0/1 99 117 54 63 0.54 intronic rs2276149 DSG2 AU,AD NM_001943 exon2 c.20023+86G>A 0.369209 0.3294 Uncertain 18_29098345_C->T 18 29098345 29098345 C T snp 1188.77 0/1 99 109 59 50 0.46 intronic rs9807377 DSG2 AU,AD NM_001943 exon2 c.20023+108C>T 0.219848 0.2867 Uncertain 18_29098474_A->G 18 29098474 29098474 A G snp 147.77 0/1 99 11 6 5 0.45 intronic rs9807379 DSG2 AU,AD NM_001943 exon2 c.20023+237A>G 0.225639 0.2937 Uncertain 18_29104564_C->A 18 29104564 29104564 C A snp 921.77 0/1 99 70 36 34 0.49 intronic rs3737378 DSG2 AU,AD NM_001943 exon7 c.26334+16C>A 0.211462 0.2847 0.218238 0.2513 0.2973 Uncertain 18_29104698_C->T 18 29104698 29104698 C T snp 2379.77 0/1 99 200 97 103 0.52 exonic rs2230233 DSG2 AU,AD synonymous SNV NM_001943 exon8 c.C861T p.N287N 0.526558 0.502 0.505877 0.4116 0.4927 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000037317.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 18_29104878_G->A 18 29104878 29104878 G A snp 1561.77 0/1 99 107 47 60 0.56 intronic rs62095194 DSG2 AU,AD NM_001943 exon8 c.26637+27G>A 0.216254 0.2847 0.220366 0.2541 0.2989 Uncertain 18_29122799_G->A 18 29122799 29122799 G A snp 214.77 0/1 99 26 15 11 0.42 exonic rs2278792 DSG2 AU,AD nonsynonymous SNV NM_001943 exon14 c.G2318A p.R773K 0.240016 0.4643 0.197289 0.2676 0.4748 0.85 T 0.000 P -0.946 T 0.026 T 0.027 T CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_multiple_submitters\x2c_no_conflicts;CLNACC=RCV000037285.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 18_29126670_T->C 18 29126670 29126670 T C snp 1910.77 0/1 99 156 77 79 0.51 exonic rs1791235 DSG2 AU,AD synonymous SNV NM_001943 exon15 c.T3321C p.V1107V 0.542931 0.7361 0.473094 0.4233 0.7075 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000037303.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 18_29237765_T->A 18 29237765 29237765 T A snp 191.84 1/1 18 6 0 6 1.0 intronic rs1449086 B4GALT6 AU NM_004775 exon7 c.32362-173T>A 0.706869 0.7579 Uncertain 18_29237860_C->T 18 29237860 29237860 C T snp 2410.77 1/1 99 87 0 87 1.0 intronic rs1449087 B4GALT6 AU NM_004775 exon7 c.32362-78C>T 0.47504 0.6964 Uncertain 18_29238077_A->- 18 29238077 29238077 A - indel 180.5 1/1 3 29 2 27 0.93 intronic rs397704070 B4GALT6 AU NM_004775 exon7 c.32476+25delA 0.4355 0.4656 Uncertain 18_29264182_G->A 18 29264182 29264182 G A snp 655.77 1/1 51 18 0 18 1.0 intronic rs1449081 B4GALT6 AU NM_004775 exon9 c.58698-92G>A 0.851238 0.8363 Uncertain 18_29339910_G->T 18 29339910 29339910 G T snp 220.84 1/1 18 6 0 6 1.0 exonic rs3859364 SLC25A52 AU nonsynonymous SNV NM_001034172 exon1 c.C745A p.L249I 1 1 0.999923 1.0000 1 1 T 0.000 P -0.930 T 0.0 T 0.005 T Pathogenic 18_29419462_C->A 18 29419462 29419462 C A snp 705.77 1/1 54 24 0 24 1.0 intronic rs7226615 TRAPPC8 AU NM_014939 exon3 c.8703+42C>A 0.332668 0.5069 0.231287 0.3158 0.4877 Uncertain 18_29426868_A->T 18 29426868 29426868 A T snp 827.77 1/1 60 28 0 28 1.0 intronic rs682279 TRAPPC8 AU NM_014939 exon4 c.16063+88A>T 0.993211 1 Uncertain 18_29432304_C->G 18 29432304 29432304 C G snp 56.74 1/1 6 2 0 2 1.0 intronic rs11081719 TRAPPC8 AU NM_014939 exon6 c.21691-104C>G 0.310104 0.5069 Uncertain 18_29432332_G->A 18 29432332 29432332 G A snp 335.78 1/1 27 10 0 10 1.0 intronic rs7239629 TRAPPC8 AU NM_014939 exon6 c.21691-76G>A 0.332867 0.5069 Uncertain 18_29432368_C->- 18 29432368 29432368 C - indel 916.73 1/1 63 21 0 21 1.0 intronic rs3841748 TRAPPC8 AU NM_014939 exon6 c.21691-40delC 0.309704 0.5069 0.210383 0.2984 0.4873 Uncertain 18_29432624_T->C 18 29432624 29432624 T C snp 1692.77 1/1 99 60 0 60 1.0 exonic rs3737374 TRAPPC8 AU nonsynonymous SNV NM_014939 exon23 c.A3436G p.T1146A 0.4375 0.5188 0.362350 0.3822 0.5027 1 T 1.000 P -0.910 T 0.0 T 0.001 T Pathogenic 18_29437400_A->G 18 29437400 29437400 A G snp 99.28 1/1 9 3 0 3 1.0 intronic rs3810001 TRAPPC8 AU NM_014939 exon10 c.26785-102A>G 0.346645 0.5079 Uncertain 18_29438021_-->T 18 29438021 29438021 - T indel 99.74 0/1 0 15 1 14 0.93 intronic rs34631623 TRAPPC8 AU NM_014939 exon10 c.27228+76insT 0.26238 0.3542 Uncertain 18_29444811_A->G 18 29444811 29444811 A G snp 2038.77 1/1 99 61 0 61 1.0 intronic rs2291239 TRAPPC8 AU NM_014939 exon11 c.34027+67A>G 0.310703 0.506 Uncertain 18_29454781_G->A 18 29454781 29454781 G A snp 640.77 1/1 48 16 0 16 1.0 intronic rs2276144 TRAPPC8 AU NM_014939 exon17 c.43950+114G>A 0.309904 0.5069 Uncertain 18_29477698_A->- 18 29477698 29477698 A - indel 1499.73 1/1 99 50 0 50 1.0 intronic rs398100776 TRAPPC8 AU NM_014939 exon19 c.67031-50delA 0.34365 0.504 Uncertain 18_29481078_-->T 18 29481078 29481078 - T indel 270.73 1/1 33 15 0 15 1.0 intronic rs3833187 TRAPPC8 AU NM_014939 exon20 c.70271+90insT 0.352636 0.502 Uncertain 18_29493533_T->A 18 29493533 29493533 T A snp 441.77 1/1 33 16 0 16 1.0 intronic rs11659244 TRAPPC8 AU NM_014939 exon25 c.82768+48T>A 0.309505 0.506 0.203541 0.3230 0.4991 Uncertain 18_29496218_C->T 18 29496218 29496218 C T snp 727.77 1/1 54 24 0 24 1.0 intronic rs62093869 TRAPPC8 AU NM_014939 exon26 c.85517-16C>T 0.346446 0.5069 0.242844 0.3338 0.4896 Uncertain 18_29497573_A->G 18 29497573 29497573 A G snp 3616.77 1/1 99 144 0 144 1.0 exonic rs6506948 TRAPPC8 AU nonsynonymous SNV NM_014939 exon3 c.T410C p.L137S 0.9998 1 0.999616 1.0000 1 1 T 0.072 P -0.940 T 0.0 T 0.0 T Pathogenic 18_29598847_C->T 18 29598847 29598847 C T snp 1142.77 0/1 99 97 56 41 0.42 exonic rs34097443 RNF125 AD synonymous SNV NM_017831 exon1 c.C21T p.T7T 0.0656949 0.2361 0.016728 0.0719 0.3632 Uncertain 18_29617255_T->G 18 29617255 29617255 T G snp 840.77 0/1 99 82 48 34 0.41 intronic rs9947278 RNF125 AD NM_017831 exon2 c.18406+23T>G 0.674321 0.4216 0.750807 0.6839 0.4127 Uncertain 18_29621951_C->T 18 29621951 29621951 C T snp 80.77 0/1 67 5 2 3 0.6 intronic rs336276 RNF125 AD NM_017831 exon3 c.23315-190C>T 0.644968 0.4196 Uncertain 18_29672559_A->G 18 29672559 29672559 A G snp 313.77 0/1 99 23 9 14 0.61 intronic rs8095867 RNF138 AU 0.669529 0.6716 Uncertain 18_29672593_G->- 18 29672593 29672593 G - indel 504.73 0/1 99 34 18 16 0.47 UTR5 rs28364713 RNF138 AU 0.0722843 0.252 0.0667 0.3313 Uncertain 18_29708920_G->C 18 29708920 29708920 G C snp 128.77 0/1 99 16 11 5 0.31 intronic rs74893619 RNF138 AU NM_001191324 exon7 c.36342-161G>C 0.00459265 0.0228 Uncertain 18_29708981_G->A 18 29708981 29708981 G A snp 2022.77 1/1 99 72 0 72 1.0 intronic rs684359 RNF138 AU NM_001191324 exon7 c.36342-100G>A 0.971046 1 Uncertain 18_29793526_C->T 18 29793526 29793526 C T snp 6589.77 1/1 99 218 0 218 1.0 splicing rs335518 MEP1B AU NM_005925 exon11 c.23489+4C>T 0.601038 0.871 0.509205 0.6149 0.8828 Pathogenic 18_29795076_T->C 18 29795076 29795076 T C snp 2910.77 1/1 99 112 0 112 1.0 exonic rs173032 MEP1B AU synonymous SNV NM_005925 exon12 c.T1611C p.S537S 0.69349 0.873 0.617801 0.6808 0.8833 Uncertain 18_29795101_T->C 18 29795101 29795101 T C snp 3327.77 1/1 99 135 0 135 1.0 exonic rs233223 MEP1B AU nonsynonymous SNV NM_005925 exon12 c.T1636C p.S546P 0.83147 0.995 0.748227 0.7700 0.9966 0.42 T 0.000 P -0.965 T 0.0 T 0.0 T Pathogenic 18_30050356_C->T 18 30050356 30050356 C T snp 2416.77 1/1 99 96 0 96 1.0 exonic rs11664566 GAREM AU synonymous SNV NM_001242409 exon1 c.G36A p.K12K 0.255591 0.3869 0.196827 0.2454 0.4250 Uncertain 18_30257000_C->G 18 30257000 30257000 C G snp 189.77 0/1 99 13 6 7 0.54 intronic rs1523580 KLHL14 AU NM_020805 exon2 c.2516-135C>G 0.227236 0.245 Uncertain 18_30257367_-->A 18 30257367 30257367 - A indel 141.73 0/1 99 14 5 9 0.64 intronic rs11386624 KLHL14 AU NM_020805 exon2 c.2674+74insA 0.271765 0.2649 Uncertain 18_30349691_C->T 18 30349691 30349691 C T snp 1306.77 0/1 99 99 41 58 0.59 exonic rs17851892 KLHL14 AU synonymous SNV NM_020805 exon2 c.G864A p.P288P 0.326278 0.3452 0.298646 0.3744 0.3721 Uncertain 18_30351955_G->A 18 30351955 30351955 G A snp 691.77 0/1 99 81 46 35 0.43 intronic rs7234849 KLHL14 AU NM_020805 exon9 c.98010-674G>A 0.330471 0.3472 Uncertain 18_30352058_CGCCGGCC->- 18 30352058 30352065 CGCCGGCC - indel 2993.73 0/1 99 73 28 45 0.62 intronic rs200605696 KLHL14 AU NM_020805 exon9 c.98010-571_98010-564delCGCCGGCC 0.7271 0.2833 Uncertain 18_30672631_G->A 18 30672631 30672631 G A snp 1170.77 1/1 84 42 0 42 1.0 intronic rs1995096 CCDC178 AU NM_198995 exon3 c.154750-93G>A 0.761781 0.9048 Uncertain 18_30804756_C->T 18 30804756 30804756 C T snp 1999.77 1/1 99 68 0 68 1.0 exonic rs466113 CCDC178 AU nonsynonymous SNV NM_001105528 exon16 c.G1801A p.D601N 0.995407 1 0.995232 0.9987 1 0.53 T 0.0 P -1.032 T 0.001 T 0.0 T Pathogenic 18_30846895_A->T 18 30846895 30846895 A T snp 1188.77 1/1 87 43 0 43 1.0 exonic rs9965081 CCDC178 AU nonsynonymous SNV NM_001105528 exon13 c.T1394A p.V465E 0.932508 0.999 0.904054 0.9398 0.9999 1 T 0.0 P -0.995 T 0.0 T 0.0 T Pathogenic 18_30950168_T->C 18 30950168 30950168 T C snp 4654.77 1/1 99 167 0 167 1.0 intronic rs9965655 CCDC178 AU NM_198995 exon17 c.432179+15T>C 0.901957 1 0.900507 0.9724 1 Uncertain 18_30976968_C->G 18 30976968 30976968 C G snp 165.9 1/1 15 6 0 6 1.0 intronic rs4447495 CCDC178 AU NM_198995 exon19 c.459138-144C>G 0.916933 1 Uncertain 18_30977255_G->A 18 30977255 30977255 G A snp 678.77 1/1 51 24 0 24 1.0 intronic rs6507018 CCDC178 AU NM_198995 exon19 c.459198+83G>A 0.876198 1 Uncertain 18_31187706_G->A 18 31187706 31187706 G A snp 422.77 0/1 99 27 12 15 0.56 intronic rs4799350 ASXL3 AU NM_030632 exon2 c.29045+66G>A 0.203874 0.1359 Uncertain 18_31225030_G->T 18 31225030 31225030 G T snp 770.77 0/1 99 56 27 29 0.52 intronic rs4799705 ASXL3 AU NM_030632 exon3 c.66371+64G>T 0.502396 0.7748 Uncertain 18_31241497_C->G 18 31241497 31241497 C G snp 404.77 0/1 99 24 11 13 0.54 intronic rs9304126 ASXL3 AU NM_030632 exon5 c.82984-82C>G 0.683506 0.877 Uncertain 18_31263320_G->A 18 31263320 31263320 G A snp 4954.77 1/1 99 173 0 173 1.0 intronic rs8086318 ASXL3 AU NM_030632 exon8 c.104773-48G>A 0.757388 0.9861 0.655693 0.6638 0.9811 Uncertain 18_31312106_T->C 18 31312106 31312106 T C snp 1022.77 1/1 75 28 0 28 1.0 intronic rs10432168 ASXL3 AU NM_030632 exon9 c.153433+78T>C 0.798323 0.9772 Uncertain 18_31312148_A->G 18 31312148 31312148 A G snp 96.28 1/1 9 3 0 3 1.0 intronic rs7504560 ASXL3 AU NM_030632 exon9 c.153433+120A>G 0.687101 0.8978 Uncertain 18_31314196_A->G 18 31314196 31314196 A G snp 441.77 1/1 33 15 0 15 1.0 intronic rs34501189 ASXL3 AU NM_030632 exon10 c.155678-77A>G 0.678315 0.8948 Uncertain 18_31318336_T->C 18 31318336 31318336 T C snp 99.28 1/1 9 4 0 4 1.0 intronic rs1845385 ASXL3 AU NM_030632 exon11 c.159855-114T>C 0.671126 0.8968 Uncertain 18_31318376_A->G 18 31318376 31318376 A G snp 446.77 1/1 33 16 0 16 1.0 intronic rs1493910 ASXL3 AU NM_030632 exon11 c.159855-74A>G 0.671126 0.8968 Uncertain 18_31320229_A->G 18 31320229 31320229 A G snp 5412.77 1/1 99 200 0 200 1.0 exonic rs2282632 ASXL3 AU nonsynonymous SNV NM_030632 exon11 c.A2861G p.N954S 0.703275 0.8988 0.600706 0.6029 0.9087 0.8 T 0.003 P -0.979 T 0.003 T 0.002 T Pathogenic 18_31324934_A->G 18 31324934 31324934 A G snp 5306.77 1/1 99 185 2 183 0.99 exonic rs7232237 ASXL3 AU nonsynonymous SNV NM_030632 exon12 c.A5122G p.M1708V 0.679113 0.8988 0.586535 0.5863 0.9062 0.62 T 0.0 P -1.037 T 0.0 T 0.0 T Pathogenic 18_32346149_G->T 18 32346149 32346149 G T snp 224.84 1/1 18 7 0 7 1.0 intronic rs1383288 DTNA AD NM_001198939 exon4 c.10065+144G>T Uncertain 18_32373873_T->C 18 32373873 32373873 T C snp 258.77 0/1 99 17 9 8 0.47 intronic rs9989533 DTNA AD NM_001198939 exon5 c.38060-127T>C 0.230032 0.4881 Uncertain 18_32585367_C->T 18 32585367 32585367 C T snp 335.77 0/1 99 32 19 13 0.41 intronic rs80105629 MAPRE2 AD NM_001143827 exon2 c.26974-88C>T 0.141174 0.1141 Uncertain 18_32650341_A->G 18 32650341 32650341 A G snp 978.77 1/1 72 29 0 29 1.0 intronic rs3744923 MAPRE2 AD NM_014268 exon2 c.28783+55A>G 0.297524 0.2907 Uncertain 18_32720189_A->G 18 32720189 32720189 A G snp 2107.77 1/1 99 68 0 68 1.0 intronic rs3786314 MAPRE2 AD NM_001256420 exon6 c.98724-69A>G 0.314497 0.3105 Uncertain 18_32822382_G->T 18 32822382 32822382 G T snp 393.77 0/1 99 37 24 13 0.35 UTR5 rs4799374 ZNF397 AU 0.792931 0.5804 Uncertain 18_32823757_A->C 18 32823757 32823757 A C snp 1235.77 0/1 99 86 35 51 0.59 intronic rs62096496 ZNF397 AU NM_032347 exon3 c.823+500A>C 0.253594 0.1637 Uncertain 18_32823905_T->C 18 32823905 32823905 T C snp 1333.77 0/1 99 112 59 53 0.47 intronic rs1054890 ZNF397 AU NM_032347 exon3 c.823+648T>C 0.718251 0.37 Uncertain 18_32824285_G->A 18 32824285 32824285 G A snp 65.77 0/1 94 8 5 3 0.38 intronic rs4799375 ZNF397 AU NM_032347 exon4 c.2791-940G>A 0.659545 0.3591 Uncertain 18_32826088_A->G 18 32826088 32826088 A G snp 812.77 0/1 99 81 48 33 0.41 exonic rs2278463 ZNF397 AU synonymous SNV NM_001135178 exon4 c.A1419G p.R473R 0.349441 0.2073 0.438677 0.4418 0.1878 Uncertain 18_32886528_-->AGTC 18 32886528 32886528 - AGTC indel 679.73 0/1 99 20 9 11 0.55 ncRNA_exonic rs147217916 ZNF271P AU 0.791733 0.5228 Uncertain 18_32887914_A->G 18 32887914 32887914 A G snp 411.77 0/1 99 46 30 16 0.35 ncRNA_exonic rs1131709 ZNF271P AU 0.488618 0.372 Uncertain 18_32887933_A->G 18 32887933 32887933 A G snp 249.77 0/1 99 36 24 12 0.33 ncRNA_exonic rs9963614 ZNF271P AU 0.79992 0.5228 Uncertain 18_32917780_-->A 18 32917780 32917780 - A indel 224.73 0/1 99 29 16 13 0.45 intronic rs397951479 ZNF24 AU NM_006965 exon1 c.539+46insA 0.797324 0.5298 0.925914 0.8640 0.5168 Uncertain 18_33077660_A->G 18 33077660 33077660 A G snp 1180.77 1/1 87 42 0 42 1.0 intronic rs189576 INO80C AU NM_194281 exon5 c.29108-22A>G 0.376398 0.5099 0.339517 0.4104 0.5402 Uncertain 18_33078046_A->G 18 33078046 33078046 A G snp 209.84 1/1 18 6 0 6 1.0 upstream rs191649 INO80C AU 0.417931 0.5099 Uncertain 18_33647254_A->C 18 33647254 33647254 A C snp 7275.77 1/1 99 250 0 250 1.0 exonic rs1789517 RPRD1A AU synonymous SNV NM_001303413 exon1 c.T114G p.R38R 0.936102 1 0.912077 0.9407 1 Uncertain 18_33691313_T->G 18 33691313 33691313 T G snp 357.77 0/1 99 28 17 11 0.39 intronic rs1540043 SLC39A6 AU NM_012319 exon2 c.1657+101T>G 0.500599 0.629 Uncertain 18_33692654_T->C 18 33692654 33692654 T C snp 344.77 0/1 99 15 5 10 0.67 intronic rs1789514 SLC39A6 AU NM_012319 exon3 c.2989+110T>C 0.274561 0.1925 Uncertain 18_33694120_G->A 18 33694120 33694120 G A snp 1150.77 0/1 99 111 59 52 0.47 exonic rs1050631 SLC39A6 AU synonymous SNV NM_012319 exon7 c.C1783T p.L595L 0.26278 0.1925 0.300233 0.3225 0.1826 Uncertain 18_33696772_A->C 18 33696772 33696772 A C snp 798.77 0/1 99 44 15 29 0.66 intronic rs1789504 SLC39A6 AU NM_012319 exon5 c.7187+30A>C 0.26278 0.1925 0.306213 0.3319 0.1915 Uncertain 18_33706614_C->G 18 33706614 33706614 C G snp 7500.77 1/1 99 248 0 248 1.0 exonic rs1789528 SLC39A6 AU nonsynonymous SNV NM_012319 exon2 c.G357C p.E119D 0.961462 1 0.961460 0.9887 0.9996 0.85 T 1.000 P -0.998 T 0.0 T 0.0 T Pathogenic 18_33709762_G->C 18 33709762 33709762 G C snp 916.77 0/1 99 71 36 35 0.49 upstream rs1632169 ELP2 AU 0.245407 0.1746 Uncertain 18_33713132_T->C 18 33713132 33713132 T C snp 68.77 0/1 97 13 9 4 0.31 intronic rs1785904 ELP2 AU NM_001242876 exon2 c.3304-68T>C 0.320487 0.2014 Uncertain 18_33713287_T->A 18 33713287 33713287 T A snp 598.77 0/1 99 64 36 28 0.44 intronic rs1785905 ELP2 AU NM_001242876 exon2 c.3383+8T>A 0.320487 0.2014 0.369599 0.3443 0.1889 Uncertain 18_33718201_-->C 18 33718201 33718201 - C indel 1075.73 0/1 99 50 20 30 0.6 intronic rs397734289 ELP2 AU NM_001242876 exon4 c.8336-31insC 0.466653 0.6399 0.398243 0.4912 0.6600 Uncertain 18_33718326_A->C 18 33718326 33718326 A C snp 1000.77 0/1 99 96 50 46 0.48 exonic rs1785934 ELP2 AU nonsynonymous SNV NM_001242875 exon4 c.A382C p.T128P 0.320487 0.2024 0.369599 0.3427 0.1893 0.28 T 0.000 P -0.949 T 0.011 T 0.02 T Pathogenic 18_33719434_C->T 18 33719434 33719434 C T snp 571.77 0/1 99 59 29 30 0.51 exonic rs1785932 ELP2 AU synonymous SNV NM_001242875 exon6 c.C576T p.A192A 0.245208 0.1756 0.2372 0.1567 Uncertain 18_33721325_C->T 18 33721325 33721325 C T snp 1532.77 0/1 99 138 71 67 0.49 intronic rs3819174 ELP2 AU NM_001242876 exon6 c.11268+161C>T 0.375 0.5357 0.5263 0.6554 Uncertain 18_33722107_T->C 18 33722107 33722107 T C snp 120.77 0/1 66 6 2 4 0.67 intronic rs1785931 ELP2 AU NM_001242876 exon7 c.12347-136T>C 0.320687 0.2014 Uncertain 18_33722425_A->G 18 33722425 33722425 A G snp 387.77 0/1 99 25 10 15 0.6 intronic rs1789549 ELP2 AU NM_001242876 exon7 c.12414+115A>G 0.320687 0.2014 Uncertain 18_33725705_C->T 18 33725705 33725705 C T snp 44.77 0/1 33 3 1 2 0.67 intronic rs1789547 ELP2 AU NM_001242876 exon10 c.16014-205C>T 0.245008 0.1756 Uncertain 18_33725874_T->G 18 33725874 33725874 T G snp 975.77 0/1 99 78 38 40 0.51 intronic rs1789546 ELP2 AU NM_001242876 exon10 c.16014-36T>G 0.245208 0.1756 0.311395 0.3184 0.1701 Uncertain 18_33725931_G->A 18 33725931 33725931 G A snp 1124.77 0/1 99 104 53 51 0.49 exonic rs1785928 ELP2 AU nonsynonymous SNV NM_001242875 exon11 c.G1108A p.V370M 0.321685 0.2014 0.370444 0.3427 0.1889 0.14 T 0.000 P -0.918 T 0.0 T 0.004 T Pathogenic 18_33726447_C->G 18 33726447 33726447 C G snp 282.77 0/1 99 22 11 11 0.5 intronic rs1785927 ELP2 AU NM_001242877 exon10 c.16448+103C>G 0.245208 0.1756 Uncertain 18_33744677_T->C 18 33744677 33744677 T C snp 304.77 0/1 99 29 19 10 0.34 intronic rs684890 ELP2 AU NM_001242876 exon17 c.34734+47T>C 0.320288 0.2014 0.368215 0.3479 0.1923 Uncertain 18_33749871_C->T 18 33749871 33749871 C T snp 56.74 1/1 6 2 0 2 1.0 intronic rs607962 ELP2 AU NM_001242876 exon19 c.40129-154C>T 0.979832 1 Uncertain 18_33750046_C->T 18 33750046 33750046 C T snp 1507.77 0/1 99 132 68 64 0.48 exonic rs8299 ELP2 AU synonymous SNV NM_001242875 exon21 c.C2292T p.C764C 0.323682 0.2014 0.379056 0.3507 0.1889 Uncertain 18_33750783_A->G 18 33750783 33750783 A G snp 269.8 1/1 21 8 0 8 1.0 intronic rs635908 ELP2 AU NM_001242876 exon20 c.41113-226A>G Uncertain 18_33767479_G->A 18 33767479 33767479 G A snp 176.77 0/1 99 21 13 8 0.38 upstream rs11665282 MOCOS AR 0.666334 0.8601 0.712722 0.7285 0.9222 Uncertain 18_33767749_G->A 18 33767749 33767749 G A snp 820.77 0/1 99 74 38 36 0.49 intronic rs4267398 MOCOS AR NM_017947 exon1 c.142+105G>A 0.230431 0.1687 Uncertain 18_33778607_C->A 18 33778607 33778607 C A snp 4494.77 1/1 99 168 1 167 0.99 intronic rs596644 MOCOS AR NM_017947 exon3 c.11150-45C>A 0.993411 1 0.991004 0.9976 1 Uncertain 18_33779821_C->A 18 33779821 33779821 C A snp 7468.77 1/1 99 250 0 250 1.0 exonic rs646424 MOCOS AR synonymous SNV NM_017947 exon4 c.C475A p.R159R 0.995407 1 0.992773 0.9982 1 Uncertain 18_33779855_C->T 18 33779855 33779855 C T snp 8200.77 1/1 99 250 1 249 1.0 exonic rs623053 MOCOS AR nonsynonymous SNV NM_017947 exon4 c.C509T p.T170I 0.864417 0.8631 0.912348 0.9134 0.8917 0.56 T 0.0 P -1.031 T 0.001 T 0.008 T Pathogenic 18_33779896_A->G 18 33779896 33779896 A G snp 7931.77 1/1 99 250 0 250 1.0 exonic rs540967 MOCOS AR nonsynonymous SNV NM_017947 exon4 c.A550G p.S184G 0.993411 1 0.991235 0.9977 1 0.4 T 0.0 P -0.938 T 0.0 T 0.0 T Pathogenic 18_33780020_A->G 18 33780020 33780020 A G snp 7914.77 1/1 99 250 0 250 1.0 exonic rs623558 MOCOS AR nonsynonymous SNV NM_017947 exon4 c.A674G p.H225R 0.992612 0.996 0.991235 0.9975 0.9990 0.73 T 0.0 P -0.983 T 0.0 T 0.0 T Pathogenic 18_33783030_T->C 18 33783030 33783030 T C snp 2825.77 0/1 99 234 109 125 0.53 intronic rs579596 MOCOS AR NM_017947 exon5 c.15573-45T>C 0.461062 0.5476 0.440105 0.5039 0.5621 Uncertain 18_33785093_G->A 18 33785093 33785093 G A snp 939.77 1/1 66 41 0 41 1.0 exonic rs678560 MOCOS AR nonsynonymous SNV NM_017947 exon6 c.G1072A p.V358M 0.855032 0.8611 0.903967 0.9096 0.8927 0.12 T 0.0 P -0.902 T 0.002 T 0.001 T Pathogenic 18_33785185_A->G 18 33785185 33785185 A G snp 640.77 1/1 48 19 0 19 1.0 exonic rs667667 MOCOS AR synonymous SNV NM_017947 exon6 c.A1164G p.P388P 0.992812 1 0.991158 0.9976 1 Uncertain 18_33785304_T->C 18 33785304 33785304 T C snp 56.74 1/1 6 2 0 2 1.0 intronic rs667195 MOCOS AR NM_017947 exon6 c.17737+65T>C 0.997005 1 Uncertain 18_33793511_T->C 18 33793511 33793511 T C snp 553.77 1/1 42 16 0 16 1.0 intronic rs687387 MOCOS AR NM_017947 exon7 c.25943+66T>C 0.937899 0.9782 Uncertain 18_33795425_G->A 18 33795425 33795425 G A snp 445.77 1/1 36 13 0 13 1.0 intronic rs631108 MOCOS AR NM_017947 exon8 c.27976-53G>A 0.835463 0.8125 Uncertain 18_33877687_T->C 18 33877687 33877687 T C snp 512.77 1/1 39 14 0 14 1.0 UTR5 rs188660514 FHOD3 AU 0.908746 0.998 Uncertain 18_33935699_A->G 18 33935699 33935699 A G snp 243.77 0/1 99 17 8 9 0.53 intronic rs79498577 FHOD3 AU NM_001281740 exon2 c.57810+91A>G 0.0605032 0.2728 Uncertain 18_34092327_G->C 18 34092327 34092327 G C snp 1126.77 0/1 99 95 48 47 0.49 intronic rs12454451 FHOD3 AU NM_001281740 exon5 c.214602-73G>C 0.0934505 0.0427 Uncertain 18_34156277_C->T 18 34156277 34156277 C T snp 56.74 1/1 6 2 0 2 1.0 intronic rs76147471 FHOD3 AU NM_001281740 exon6 c.278615-136C>T 0.0946486 0.1567 Uncertain 18_34156278_T->G 18 34156278 34156278 T G snp 56.74 1/1 6 2 0 2 1.0 intronic rs74599520 FHOD3 AU NM_001281740 exon6 c.278615-135T>G 0.0946486 0.1567 Uncertain 18_34156497_A->G 18 34156497 34156497 A G snp 2087.77 0/1 99 204 108 96 0.47 exonic rs61735987 FHOD3 AU nonsynonymous SNV NM_025135 exon6 c.A595G p.I199V 0.0660942 0.1567 0.009918 0.0325 0.1450 0.56 T 0.989 N -0.971 T 0.034 T 0.035 T Pathogenic 18_34174958_T->C 18 34174958 34174958 T C snp 1207.77 1/1 87 42 0 42 1.0 intronic rs8087763 FHOD3 AU NM_001281740 exon7 c.297063+97T>C 0.719848 0.8998 Uncertain 18_34205385_A->G 18 34205385 34205385 A G snp 449.77 1/1 36 15 0 15 1.0 intronic rs2644253 FHOD3 AU NM_001281740 exon10 c.327675-88A>G 0.842053 0.998 Uncertain 18_34205551_C->T 18 34205551 34205551 C T snp 1151.77 0/1 99 106 56 50 0.47 exonic rs60414347 FHOD3 AU synonymous SNV NM_025135 exon10 c.C1035T p.S345S 0.0872604 0.2262 0.065615 0.0669 0.2172 Uncertain 18_34233231_C->T 18 34233231 34233231 C T snp 2102.77 0/1 99 176 95 81 0.46 intronic rs1893434 FHOD3 AU NM_001281740 exon13 c.355506-73C>T 0.571086 0.4256 Uncertain 18_34261559_T->A 18 34261559 34261559 T A snp 1204.77 1/1 87 41 0 41 1.0 intronic rs542241 FHOD3 AU NM_001281740 exon15 c.383735+26T>A 0.460264 0.6438 0.403199 0.4873 0.6646 Uncertain 18_34261582_G->- 18 34261582 34261582 G - indel 1143.73 1/1 84 30 0 30 1.0 intronic rs34100890 FHOD3 AU NM_001281740 exon15 c.383735+49delG 0.63099 0.6448 0.672579 0.6295 0.6496 Uncertain 18_34273039_T->C 18 34273039 34273039 T C snp 99.28 1/1 9 3 0 3 1.0 intronic rs479570 FHOD3 AU NM_001281740 exon17 c.395373-132T>C 0.654752 0.6587 Uncertain 18_34273440_C->T 18 34273440 34273440 C T snp 331.78 1/1 27 10 0 10 1.0 intronic rs483351 FHOD3 AU NM_001281740 exon17 c.395588+54C>T 0.476238 0.6488 Uncertain 18_34298333_A->C 18 34298333 34298333 A C snp 46.77 0/1 75 40 27 13 0.33 exonic FHOD3 AU synonymous SNV NM_025135 exon16 c.A2547C p.P849P 0.0558 0.0328 Uncertain 18_34398883_G->A 18 34398883 34398883 G A snp 2440.77 0/1 99 174 70 104 0.6 exonic rs2303507 TPGS2 AU nonsynonymous SNV NM_001271949 exon2 c.C139T p.R47C 0.0309505 0.1498 0.002614 0.0133 0.1507 0 D 1.000 P -1.022 T 0.858 T 0.11 P Pathogenic 18_34408969_C->G 18 34408969 34408969 C G snp 103.77 0/1 99 18 12 6 0.33 UTR5 rs9958080 TPGS2 AU 0.836262 0.9315 Uncertain 18_34539578_A->G 18 34539578 34539578 A G snp 222.84 1/1 18 7 0 7 1.0 intronic rs3744904 KIAA1328 AU NM_020776 exon6 c.130297+180A>G 0.738818 0.8899 Uncertain 18_34801866_A->G 18 34801866 34801866 A G snp 290.77 0/1 99 21 9 12 0.57 intronic rs3747897 KIAA1328 AU NM_020776 exon10 c.392878-113A>G 0.112021 0.1815 Uncertain 18_35065375_G->- 18 35065375 35065375 G - indel 238.77 1/1 21 7 0 7 1.0 intronic rs5824066 CELF4 AU NM_001025089 exon11 c.231714-112delG Uncertain 18_35065396_T->C 18 35065396 35065396 T C snp 396.77 1/1 30 12 0 12 1.0 intronic rs4799451 CELF4 AU NM_001025089 exon11 c.231714-91T>C 1 1 Uncertain 18_35145660_-->CTCG 18 35145660 35145660 - CTCG indel 897.73 1/1 48 28 0 28 1.0 UTR5 rs10681496 CELF4 AU 0.827676 0.8819 Uncertain 18_37201910_G->A 18 37201910 37201910 G A snp 961.77 1/1 72 29 0 29 1.0 ncRNA_intronic rs2852341 LINC00669 AU 0.284345 0.3681 Uncertain 18_39535169_-->C 18 39535169 39535169 - C indel 479.73 0/1 99 31 16 15 0.48 upstream rs3833864 PIK3C3 AU 0.240615 0.2927 Uncertain 18_39542408_AT->- 18 39542408 39542409 AT - indel 1079.73 1/1 75 25 0 25 1.0 intronic rs33946724 PIK3C3 AU NM_002647 exon3 c.7197-45_7197-44delAT 0.566494 0.6022 0.497512 0.5209 0.6824 Uncertain 18_39600755_A->G 18 39600755 39600755 A G snp 46.77 0/1 36 4 2 2 0.5 intronic rs8095411 PIK3C3 AU NM_002647 exon13 c.65413+86A>G 0.203075 0.2937 Uncertain 18_39623942_A->G 18 39623942 39623942 A G snp 261.8 1/1 21 7 0 7 1.0 intronic rs534507 PIK3C3 AU NM_002647 exon20 c.88525+161A>G 0.994808 1 Uncertain 18_40323497_G->T 18 40323497 40323497 G T snp 3880.77 1/1 99 132 0 132 1.0 exonic rs1804730 RIT2 AU synonymous SNV NM_002930 exon5 c.C615A p.L205L 0.589856 0.6984 0.491850 0.4541 0.7215 Uncertain 18_40554120_A->G 18 40554120 40554120 A G snp 728.77 0/1 99 68 34 34 0.5 intronic rs16977171 RIT2 AU NM_001272077 exon4 c.53423+8A>G 0.101438 0.1815 0.067430 0.1088 0.1905 Uncertain 18_40850296_G->A 18 40850296 40850296 G A snp 540.77 0/1 99 30 12 18 0.6 UTR3 rs3744959 SYT4 AU 0.141374 0.3849 0.058896 0.1235 0.4050 Uncertain 18_41559268_T->G 18 41559268 41559268 T G snp 1437.77 1/1 99 41 0 41 1.0 intergenic rs7230555 SYT4 AU 0.710863 0.8611 Uncertain 18_41559321_C->G 18 41559321 41559321 C G snp 2761.77 1/1 99 105 0 105 1.0 intergenic rs7229587 SYT4 AU 0.710863 0.8611 0.6253 0.7939 Uncertain 18_42456653_G->A 18 42456653 42456653 G A snp 1658.77 1/1 99 61 0 61 1.0 intronic rs663651 SETBP1 AD NM_001130110 exon4 c.175218+124G>A 0.493011 0.4762 0.5073 0.5129 0.11 T 0.0 P -0.932 T 0.0 T 0.0 T CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000147471.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 18_42456670_-->TCTT 18 42456670 42456670 - TCTT indel 4545.73 1/1 99 63 0 63 1.0 intronic rs3085861 SETBP1 AD NM_001130110 exon4 c.175218+141insTCTT 0.49381 0.4762 0.534764 0.5146 0.5195 ID=COSM1480329;OCCURENCE=1(breast) Uncertain 18_42532693_C->A 18 42532693 42532693 C A snp 1583.77 0/1 99 125 66 59 0.47 exonic rs1064204 SETBP1 AD nonsynonymous SNV NM_015559 exon4 c.C3388A p.P1130T 0.11861 0.1895 0.095494 0.1288 0.1896 0.17 T 0.408 P -1.087 T 0.0 T 0.003 T CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000147460.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 18_42533130_A->G 18 42533130 42533130 A G snp 1346.77 0/1 99 107 54 53 0.5 exonic rs8096662 SETBP1 AD synonymous SNV NM_015559 exon4 c.A3825G p.S1275S 0.906949 0.9405 0.899585 0.8775 0.9578 CLINSIG=unknown,non-pathogenic,unknown;CLNDBN=Schinzel-Giedion_syndrome,not_specified,Schinzel-Giedion_syndrome;CLNREVSTAT=criteria_provided\x2c_single_submitter,criteria_provided\x2c_single_submitter,criteria_provided\x2c_single_submitter;CLNACC=RCV000147461.1,RCV000147462.1,RCV000147463.1;CLNDSDB=MedGen:OMIM:Orphanet:SNOMED_CT,MedGen,MedGen:OMIM:Orphanet:SNOMED_CT;CLNDSDBID=C1849294:269150:ORPHA798:18899000,CN169374,C1849294:269150:ORPHA798:18899000 Uncertain 18_42533315_T->A 18 42533315 42533315 T A snp 1195.77 0/1 99 118 62 56 0.47 intronic rs3786177 SETBP1 AD NM_015559 exon4 c.251994+10T>A 0.11861 0.1895 0.096033 0.1390 0.2032 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000147464.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 18_43206985_A->G 18 43206985 43206985 A G snp 701.77 1/1 51 25 0 25 1.0 exonic rs1484873 SLC14A2 AU nonsynonymous SNV NM_007163 exon4 c.A394G p.I132V 0.892971 0.8532 0.926342 0.9136 0.8580 1 T 0.000 P -0.951 T 0.0 T 0.0 T Pathogenic 18_43221341_T->C 18 43221341 43221341 T C snp 3506.77 1/1 99 128 0 128 1.0 intronic rs7233416 SLC14A2 AU NM_001242692 exon9 c.16679+33T>C 0.897963 0.7837 0.945256 0.9210 0.7618 Uncertain 18_43243679_A->G 18 43243679 43243679 A G snp 172.9 1/1 15 6 0 6 1.0 intronic rs8092227 SLC14A2 AU NM_001242692 exon12 c.39120-70A>G 0.866414 0.6528 Uncertain 18_43245986_T->G 18 43245986 43245986 T G snp 833.77 1/1 63 31 0 31 1.0 intronic rs7234198 SLC14A2 AU NM_001242692 exon13 c.41472-115T>G 0.644369 0.4067 Uncertain 18_43246156_G->A 18 43246156 43246156 G A snp 3233.06 1/1 99 129 0 129 1.0 exonic rs9960464 SLC14A2 AU nonsynonymous SNV NM_007163 exon12 c.G1529A p.R510Q 0.373403 0.3423 0.407043 0.4424 0.3210 0.6 T 0.0 P -0.954 T 0.0 T 0.0 T Pathogenic 18_43246329_G->T 18 43246329 43246329 G T snp 99.28 1/1 9 3 0 3 1.0 intronic rs2170972 SLC14A2 AU NM_001242692 exon13 c.41555+145G>T 0.644768 0.4058 Uncertain 18_43246779_C->T 18 43246779 43246779 C T snp 772.77 1/1 57 24 0 24 1.0 intronic rs2170973 SLC14A2 AU NM_001242692 exon14 c.42270-120C>T 0.699281 0.4067 Uncertain 18_43247001_C->G 18 43247001 43247001 C G snp 1406.77 1/1 99 51 1 50 0.98 exonic rs2156609 SLC14A2 AU synonymous SNV NM_007163 exon13 c.C1659G p.V553V 0.65016 0.4296 0.764109 0.7684 0.4042 Uncertain 18_43247784_C->T 18 43247784 43247784 C T snp 1947.77 1/1 99 65 0 65 1.0 intronic rs9964193 SLC14A2 AU NM_001242692 exon15 c.43168-13C>T 0.363818 0.3641 0.391588 0.4409 0.3383 Uncertain 18_43248212_C->T 18 43248212 43248212 C T snp 84.28 1/1 9 3 0 3 1.0 intronic rs3737475 SLC14A2 AU NM_001242692 exon16 c.43684-101C>T 0.703674 0.4276 Uncertain 18_43248504_T->C 18 43248504 43248504 T C snp 3360.77 1/1 99 129 0 129 1.0 intronic rs6507631 SLC14A2 AU NM_001242692 exon16 c.43813+62T>C 0.703474 0.4226 Uncertain 18_43248509_T->C 18 43248509 43248509 T C snp 3311.77 1/1 99 122 0 122 1.0 intronic rs10451385 SLC14A2 AU NM_001242692 exon16 c.43813+67T>C 0.634585 0.4226 Uncertain 18_43248578_C->A 18 43248578 43248578 C A snp 1610.77 1/1 99 49 0 49 1.0 intronic rs9304319 SLC14A2 AU NM_001242692 exon16 c.43813+136C>A 0.635583 0.4226 Uncertain 18_43252786_A->G 18 43252786 43252786 A G snp 2080.77 1/1 99 73 0 73 1.0 intronic rs1531926 SLC14A2 AU NM_001242692 exon18 c.48235-78A>G 0.996805 1 Uncertain 18_43307455_C->T 18 43307455 43307455 C T snp 676.77 1/1 51 24 0 24 1.0 intronic rs3861806 SLC14A1 AU NM_001146037 exon1 c.147+72C>T 0.946685 1 Uncertain 18_43310415_G->A 18 43310415 43310415 G A snp 1063.77 0/1 99 118 67 51 0.43 exonic rs2298720 SLC14A1 AU nonsynonymous SNV NM_015865 exon3 c.G130A p.E44K 0.235423 0.4038 0.108181 0.1475 0.3918 0.05 T 1.0 P -0.968 T 0.873 T 0.298 P Pathogenic 18_43310851_G->A 18 43310851 43310851 G A snp 187.77 0/1 94 11 3 8 0.73 intronic rs12963324 SLC14A1 AU NM_001146037 exon3 c.3743-128G>A 0.179113 0.0774 Uncertain 18_43314401_-->A 18 43314401 43314401 - A indel 105.73 0/1 35 11 2 9 0.82 intronic rs35812340 SLC14A1 AU NM_001146037 exon4 c.7131+34insA 0.594848 0.5704 0.672604 0.6980 0.5729 Uncertain 18_43316538_A->G 18 43316538 43316538 A G snp 2149.77 0/1 99 181 87 94 0.52 exonic rs2298718 SLC14A1 AU synonymous SNV NM_015865 exon6 c.A588G p.P196P 0.711262 0.9315 0.581347 0.6357 0.9288 Uncertain 18_43319060_T->C 18 43319060 43319060 T C snp 3532.77 1/1 99 127 0 127 1.0 intronic rs473429 SLC14A1 AU NM_001146037 exon6 c.11891-67T>C 0.489617 0.4732 Uncertain 18_43319359_C->T 18 43319359 43319359 C T snp 1883.77 1/1 99 51 0 51 1.0 intronic rs531281 SLC14A1 AU NM_001146037 exon6 c.12039+84C>T 0.948482 1 Uncertain 18_43328295_G->A 18 43328295 43328295 G A snp 1356.77 0/1 99 165 102 63 0.38 intronic rs474270 SLC14A1 AU NM_001146037 exon8 c.21104-45G>A 0.176717 0.0675 0.268261 0.2890 0.0714 Uncertain 18_43329719_G->A 18 43329719 43329719 G A snp 1271.77 0/1 99 84 36 48 0.57 intronic rs1032119 SLC14A1 AU NM_001146037 exon9 c.22506-23G>A 0.253794 0.4256 0.114178 0.1628 0.4133 Uncertain 18_43416974_T->A 18 43416974 43416974 T A snp 837.77 0/1 99 69 31 38 0.55 intronic rs9950673 SIGLEC15 AU NM_213602 exon2 c.11300-19T>A 0.320487 0.374 0.192527 0.2179 0.3513 Uncertain 18_43417752_C->G 18 43417752 43417752 C G snp 1403.77 0/1 99 124 58 66 0.53 exonic rs78530686 SIGLEC15 AU synonymous SNV NM_213602 exon3 c.C387G p.V129V 0.236222 0.37 0.080277 0.3331 0.5109 Uncertain 18_43419003_T->C 18 43419003 43419003 T C snp 641.77 0/1 99 72 44 28 0.39 exonic rs2919643 SIGLEC15 AU nonsynonymous SNV NM_213602 exon4 c.T817C p.F273L 0.396565 0.3849 0.224855 0.3155 0.4349 0.91 T 1.000 P -0.925 T 0.0 T 0.0 T Pathogenic 18_43420177_G->A 18 43420177 43420177 G A snp 2206.77 0/1 99 217 117 100 0.46 exonic rs61104666 SIGLEC15 AU synonymous SNV NM_213602 exon5 c.G876A p.E292E 0.252995 0.371 0.126711 0.1965 0.3456 Uncertain 18_43422280_T->C 18 43422280 43422280 T C snp 210.77 0/1 99 14 7 7 0.5 UTR3 rs500899 SIGLEC15 AU 0.389177 0.381 Uncertain 18_43435738_A->C 18 43435738 43435738 A C snp 462.77 0/1 99 28 7 21 0.75 intronic rs514001 EPG5 AR NM_020964 exon2 c.3221+86A>C 0.844249 0.9196 Uncertain 18_43445816_G->C 18 43445816 43445816 G C snp 43.77 0/1 72 4 2 2 0.5 intronic rs8099496 EPG5 AR NM_020964 exon6 c.13293+92G>C 0.222644 0.3671 Uncertain 18_43446734_T->C 18 43446734 43446734 T C snp 1101.77 0/1 99 89 45 44 0.49 intronic rs3826633 EPG5 AR NM_020964 exon7 c.14331-28T>C 0.84385 0.9196 0.792620 0.7632 0.9017 Uncertain 18_43480926_A->G 18 43480926 43480926 A G snp 1750.77 0/1 99 110 47 63 0.57 intronic rs3826634 EPG5 AR NM_020964 exon19 c.48529-34A>G 0.270567 0.3046 0.178824 0.2203 0.2887 Uncertain 18_43481075_G->A 18 43481075 43481075 G A snp 2740.77 0/1 99 234 120 114 0.49 exonic rs1893523 EPG5 AR nonsynonymous SNV NM_020964 exon26 c.C4532T p.A1511V 0.320288 0.3046 0.225433 0.2332 0.2887 0.36 T 0.0 P -0.922 T 0.0 T 0.0 T Pathogenic 18_43487886_AA->- 18 43487886 43487887 AA - indel 188.73 0/1 60 19 5 14 0.74 intronic rs764705751 EPG5 AR NM_020964 exon21 c.55491-36_55491-35delAA 0.2407 0.2672 Uncertain 18_43490602_G->A 18 43490602 43490602 G A snp 841.77 0/1 99 78 43 35 0.45 exonic rs3744996 EPG5 AR synonymous SNV NM_020964 exon23 c.C4089T p.H1363H 0.266374 0.3095 0.175394 0.2185 0.2994 Uncertain 18_43496097_G->C 18 43496097 43496097 G C snp 641.77 0/1 99 76 48 28 0.37 exonic rs750634776 EPG5 AR synonymous SNV NM_020964 exon19 c.C3459G p.L1153L 8.287e-06 0.0001 Uncertain 18_43505558_C->G 18 43505558 43505558 C G snp 366.77 0/1 99 25 13 12 0.48 intronic rs4476262 EPG5 AR NM_020964 exon31 c.73272-145C>G 0.85004 0.9077 Uncertain 18_43508800_G->A 18 43508800 43508800 G A snp 948.77 0/1 99 86 47 39 0.45 intronic rs9965433 EPG5 AR NM_020964 exon32 c.76403-34G>A 0.271965 0.3056 0.164115 0.1641 0.2964 Uncertain 18_43509045_A->G 18 43509045 43509045 A G snp 633.77 0/1 99 37 17 20 0.54 intronic rs73953914 EPG5 AR NM_020964 exon32 c.76544+70A>G 0.235823 0.3065 Uncertain 18_43519441_A->G 18 43519441 43519441 A G snp 50.74 1/1 6 2 0 2 1.0 intronic rs8098175 EPG5 AR NM_020964 exon35 c.87134-124A>G 0.371006 0.3313 Uncertain 18_43523312_G->A 18 43523312 43523312 G A snp 664.77 0/1 99 59 36 23 0.39 intronic rs3745000 EPG5 AR NM_020964 exon36 c.90846+35G>A 0.377196 0.3333 0.278004 0.2482 0.3239 Uncertain 18_43547128_G->- 18 43547128 43547128 G - indel 3692.73 1/1 99 98 0 98 1.0 intronic rs11301517 EPG5 AR NM_020964 exon44 c.114711-14delG 1 1 0.999663 1 1 Uncertain 18_43573649_A->G 18 43573649 43573649 A G snp 3450.77 0/1 99 250 113 137 0.55 exonic rs116067668 PSTPIP2 AU synonymous SNV NM_024430 exon10 c.T663C p.C221C 0.0403355 0.0198 0.023143 0.0433 0.0159 Uncertain 18_43595802_C->T 18 43595802 43595802 C T snp 908.77 0/1 99 72 32 40 0.56 intronic rs73438258 PSTPIP2 AU NM_024430 exon12 c.27193-66C>T 0.111022 0.0268 0.110162 Uncertain 18_43595851_A->- 18 43595851 43595851 A - indel 1193.73 0/1 99 95 41 54 0.57 intronic rs11349070 PSTPIP2 AU NM_024430 exon12 c.27193-17delA 0.354633 0.4008 0.3097 0.4748 Uncertain 18_43678035_T->C 18 43678035 43678035 T C snp 452.77 0/1 99 24 11 13 0.54 intronic rs3753069 ATP5A1 AR NM_001001937 exon12 c.13890-102T>C 0.550519 0.4563 0.6472 0.615 Uncertain 18_43684657_C->A 18 43684657 43684657 C A snp 264.77 0/1 99 13 4 9 0.69 intronic rs3744992 HAUS1 AU NM_138443 exon1 c.30+250C>A 0.277756 0.4067 Uncertain 18_43685516_A->G 18 43685516 43685516 A G snp 83.77 0/1 30 4 1 3 0.75 intronic rs12604094 HAUS1 AU NM_138443 exon2 c.957+182A>G Uncertain 18_43698309_C->T 18 43698309 43698309 C T snp 616.77 0/1 99 52 24 28 0.54 intronic rs1866321 HAUS1 AU NM_138443 exon3 c.13905+27C>T 0.555112 0.4563 0.609565 0.5444 0.4479 Uncertain 18_43698447_A->G 18 43698447 43698447 A G snp 80.77 0/1 99 7 4 3 0.43 intronic rs1866322 HAUS1 AU NM_138443 exon3 c.13905+165A>G 0.214058 0.3948 Uncertain 18_43702733_C->T 18 43702733 43702733 C T snp 393.77 0/1 99 29 15 14 0.48 intronic rs9965812 HAUS1 AU NM_138443 exon5 c.18179+177C>T 0.557907 0.4573 Uncertain 18_43703223_C->G 18 43703223 43703223 C G snp 152.77 0/1 99 12 5 7 0.58 intronic rs12954742 HAUS1 AU NM_138443 exon6 c.18887-41C>G 0.459665 0.4554 0.494387 0.4918 0.4471 Uncertain 18_43705523_A->T 18 43705523 43705523 A T snp 30.77 0/1 31 3 1 2 0.67 intronic rs78226023 HAUS1 AU NM_138443 exon8 c.21332-186A>T 0.178514 0.3948 Uncertain 18_43707880_A->G 18 43707880 43707880 A G snp 82.77 0/1 99 10 5 5 0.5 intronic rs4243278 HAUS1 AU NM_138443 exon9 c.23663-160A>G 0.309704 0.4216 Uncertain 18_43833701_-->CTG 18 43833701 43833701 - CTG indel 1994.73 0/1 99 76 37 39 0.51 exonic rs34068795 C18orf25 AU nonframeshift insertion NM_001008239 exon3 c.754_755insCTG p.S252delinsSA 0.692692 0.6022 0.7156 0.5756 Uncertain 18_43914140_C->T 18 43914140 43914140 C T snp 96.77 0/1 99 12 7 5 0.42 upstream RNF165 AU Uncertain 18_43914438_A->C 18 43914438 43914438 A C snp 822.77 1/1 60 25 0 25 1.0 intronic rs8084936 RNF165 AU NM_152470 exon1 c.61+140A>C 0.790136 0.9137 0.7858 0.9435 Uncertain 18_44012970_G->A 18 44012970 44012970 G A snp 520.77 1/1 39 14 0 14 1.0 intronic rs12966506 RNF165 AU NM_152470 exon2 c.98915-182G>A 0.427716 0.7242 Uncertain 18_44063598_G->A 18 44063598 44063598 G A snp 1987.77 1/1 99 75 0 75 1.0 exonic rs1377016 LOXHD1 AR nonsynonymous SNV NM_001145472 exon22 c.C2960T p.A987V 0.378994 0.7292 0.3217 0.7315 0.51 T 0.0 P -0.955 T 0.0 T 0.0 T CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000041221.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 18_44109033_T->C 18 44109033 44109033 T C snp 133.03 1/1 12 4 0 4 1.0 intronic rs1450425 LOXHD1 AR NM_001145472 exon14 c.51994-106T>C 0.620208 0.5883 CLINSIG=probable-pathogenic;CLNDBN=not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000171270.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Uncertain 18_44109115_G->A 18 44109115 44109115 G A snp 2030.77 1/1 99 67 0 67 1.0 intronic rs59252058 LOXHD1 AR NM_001145472 exon14 c.51994-24G>A 0.322883 0.5585 0.302453 0.3116 0.5723 Uncertain 18_44114473_T->C 18 44114473 44114473 T C snp 3306.77 1/1 99 113 0 113 1.0 intronic rs436433 LOXHD1 AR NM_001145472 exon16 c.57269+59T>C 0.973043 1 Uncertain 18_44122010_T->C 18 44122010 44122010 T C snp 1806.77 1/1 99 56 0 56 1.0 intronic rs10775482 LOXHD1 AR NM_001145472 exon18 c.64758+107T>C 0.654553 0.4752 Uncertain 18_44124967_A->G 18 44124967 44124967 A G snp 697.77 1/1 51 21 0 21 1.0 intronic rs988213 LOXHD1 AR NM_001145472 exon20 c.68134-312A>G 0.326078 0.5704 Uncertain 18_44124980_C->T 18 44124980 44124980 C T snp 143.77 0/1 99 14 8 6 0.43 intronic rs149969877 LOXHD1 AR NM_001145472 exon20 c.68134-299C>T 0.00399361 0.0129 Uncertain 18_44126909_T->C 18 44126909 44126909 T C snp 6863.77 1/1 99 248 0 248 1.0 exonic rs1893566 LOXHD1 AR nonsynonymous SNV NM_001145472 exon4 c.A130G p.R44G 0.694688 0.6677 0.771572 0.7675 0.68 0.26 T 0.0 P -1.022 T 0.006 T 0.007 T CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000041206.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 18_44135027_A->G 18 44135027 44135027 A G snp 1734.77 1/1 99 65 0 65 1.0 intronic rs732108 LOXHD1 AR NM_001145472 exon22 c.80173-2291A>G 0.531949 0.5188 Uncertain 18_44135050_G->A 18 44135050 44135050 G A snp 2252.77 1/1 99 86 0 86 1.0 intronic rs732109 LOXHD1 AR NM_001145472 exon22 c.80173-2268G>A 0.44369 0.4583 0.4919 0.4650 Uncertain 18_44135143_T->C 18 44135143 44135143 T C snp 2900.77 1/1 99 104 0 104 1.0 intronic rs11665444 LOXHD1 AR NM_001145472 exon22 c.80173-2175T>C 0.541933 0.5595 0.6254 0.5556 0.05 T 0.0 P -0.996 T Uncertain 18_44135328_C->T 18 44135328 44135328 C T snp 341.78 1/1 27 10 0 10 1.0 intronic rs62097104 LOXHD1 AR NM_001145472 exon22 c.80173-1990C>T 0.44389 0.4583 Uncertain 18_44138902_C->T 18 44138902 44138902 C T snp 1176.77 1/1 87 34 0 34 1.0 intronic rs4243280 LOXHD1 AR NM_001145472 exon24 c.81987-230C>T 0.8123 0.9752 Uncertain 18_44152028_C->A 18 44152028 44152028 C A snp 1317.77 0/1 99 102 48 54 0.53 intronic rs116877421 LOXHD1 AR NM_144612 exon26 c.94614-20C>A 0.00599042 0.0268 0.000657 0.0017 0.0323 Uncertain 18_44157478_G->A 18 44157478 44157478 G A snp 161.77 0/1 63 8 2 6 0.75 intronic rs75732171 LOXHD1 AR NM_144612 exon27 c.100235-191G>A 0.0129792 0.0526 Uncertain 18_44157489_G->T 18 44157489 44157489 G T snp 159.77 0/1 63 8 2 6 0.75 intronic rs328167 LOXHD1 AR NM_144612 exon27 c.100235-180G>T 0.280751 0.3462 Uncertain 18_44157506_G->T 18 44157506 44157506 G T snp 195.77 0/1 99 13 5 8 0.62 intronic rs328166 LOXHD1 AR NM_144612 exon27 c.100235-163G>T 0.334265 0.3393 Uncertain 18_44171827_G->A 18 44171827 44171827 G A snp 475.77 0/1 99 47 29 18 0.38 intronic rs12606558 LOXHD1 AR NM_144612 exon29 c.114461-68G>A 0.283347 0.3621 Uncertain 18_44173449_A->C 18 44173449 44173449 A C snp 641.77 1/1 48 18 0 18 1.0 intronic rs328145 LOXHD1 AR NM_144612 exon31 c.116128-113A>C 0.717252 0.7649 Uncertain 18_44174499_G->T 18 44174499 44174499 G T snp 226.77 0/1 97 12 3 9 0.75 intronic rs12608365 LOXHD1 AR NM_144612 exon32 c.116995+70G>T 0.257788 0.2808 Uncertain 18_44181596_G->A 18 44181596 44181596 G A snp 83.77 0/1 69 6 2 4 0.67 intronic rs674948 LOXHD1 AR NM_144612 exon33 c.123996+166G>A 0.838458 0.8333 Uncertain 18_44197963_A->C 18 44197963 44197963 A C snp 80.77 0/1 98 6 3 3 0.5 intronic rs328130 LOXHD1 AR NM_144612 exon36 c.140720-191A>C 0.288339 0.4206 Uncertain 18_44228959_A->G 18 44228959 44228959 A G snp 94.28 1/1 9 3 0 3 1.0 intronic rs328179 LOXHD1 AR NM_144612 exon39 c.171683-158A>G 0.8125 0.8899 Uncertain 18_44272034_A->C 18 44272034 44272034 A C snp 818.77 1/1 60 26 0 26 1.0 intronic rs533027 ST8SIA5 AU NM_013305 exon5 c.12127-97A>C 0.895367 0.871 Uncertain 18_44272090_G->A 18 44272090 44272090 G A snp 669.77 0/1 99 58 29 29 0.5 intronic rs532849 ST8SIA5 AU NM_013305 exon5 c.12127-41G>A 0.13758 0.3492 0.072813 0.0935 0.3259 Uncertain 18_44284529_A->G 18 44284529 44284529 A G snp 196.77 0/1 99 24 15 9 0.38 splicing ST8SIA5 AU NM_013305 exon6 c.24530-5A>G Pathogenic 18_44424105_-->A 18 44424105 44424105 - A indel 103.73 0/1 99 20 8 12 0.6 intronic rs34052557 PIAS2 AU NM_004671 exon7 c.31695+15insA 0.458466 0.3879 0.6384 0.4670 Uncertain 18_44426877_C->T 18 44426877 44426877 C T snp 158.77 0/1 99 20 13 7 0.35 intronic rs644731 PIAS2 AU NM_004671 exon9 c.34409+73C>T 0.41254 0.3353 Uncertain 18_44470706_G->A 18 44470706 44470706 G A snp 2090.77 0/1 99 151 71 80 0.53 exonic rs113887072 PIAS2 AU synonymous SNV NM_004671 exon2 c.C336T p.H112H 0.0231629 0.0407 0.012994 0.0067 0.0392 Uncertain 18_44526798_A->C 18 44526798 44526798 A C snp 834.77 0/1 99 65 32 33 0.51 UTR5 rs2187092 KATNAL2 AU 0.472444 0.3571 0.4775 0.4184 Uncertain 18_44560300_C->T 18 44560300 44560300 C T snp 392.77 0/1 99 38 23 15 0.39 exonic rs3744863 TCEB3B AU nonsynonymous SNV NM_016427 exon1 c.G1336A p.A446T 0.534145 0.6448 0.450923 0.5060 0.6476 0.36 T 0.0 P -0.975 T 0.999 D 0.895 D Pathogenic 18_44560429_C->A 18 44560429 44560429 C A snp 1373.77 0/1 99 98 43 55 0.56 exonic rs892586 TCEB3B AU nonsynonymous SNV NM_016427 exon1 c.G1207T p.A403S 0.596845 0.6518 0.547517 0.5710 0.6537 1 T 0.0 P -0.960 T 0.0 T 0.0 T Pathogenic 18_44560875_C->A 18 44560875 44560875 C A snp 2814.77 0/1 99 244 118 126 0.52 exonic rs2010834 TCEB3B AU nonsynonymous SNV NM_016427 exon1 c.G761T p.C254F 0.534145 0.6448 0.450484 0.5058 0.6472 0.44 T 0.0 P -0.936 T 0.115 T 0.03 T Pathogenic 18_44561100_C->G 18 44561100 44561100 C G snp 192.77 0/1 99 15 8 7 0.47 exonic rs2571028 TCEB3B AU nonsynonymous SNV NM_016427 exon1 c.G536C p.R179P 0.564097 0.6518 0.510025 0.5614 0.6567 0.62 T 0.0 P -0.965 T 0.0 T 0.0 T Pathogenic 18_44561516_C->G 18 44561516 44561516 C G snp 145.77 0/1 99 15 8 7 0.47 exonic rs2571027 TCEB3B AU synonymous SNV NM_016427 exon1 c.G120C p.T40T 0.535144 0.6448 0.5086 0.6507 Uncertain 18_44561795_C->T 18 44561795 44561795 C T snp 44.77 0/1 33 3 1 2 0.67 UTR5 rs2571026 TCEB3B AU 0.533746 0.6448 Uncertain 18_44580919_C->T 18 44580919 44580919 C T snp 966.77 0/1 99 100 59 41 0.41 intronic rs2576041 KATNAL2 AU NM_031303 exon3 c.1465+110C>T 0.478235 0.4762 Uncertain 18_44584864_C->- 18 44584864 44584864 C - indel 232.73 0/1 99 26 15 11 0.42 intronic rs142505186 KATNAL2 AU NM_031303 exon4 c.5379+141delC 0.024361 0.0397 Uncertain 18_44585955_G->A 18 44585955 44585955 G A snp 1038.77 0/1 99 107 59 48 0.45 exonic rs7233515 KATNAL2 AU nonsynonymous SNV NM_031303 exon5 c.G263A p.S88N 0.435304 0.4752 0.381901 0.4236 0.4936 0.38 T 0.0 P -1.049 T 0.001 T 0.003 T Pathogenic 18_44595809_A->T 18 44595809 44595809 A T snp 3121.77 1/1 99 101 0 101 1.0 intronic rs2289036 KATNAL2 AU NM_031303 exon10 c.16508-43A>T 0.497204 0.4772 0.569814 0.5530 0.4578 Uncertain 18_44601611_A->G 18 44601611 44601611 A G snp 2487.77 0/1 99 216 109 107 0.5 intronic rs3816125 KATNAL2 AU NM_031303 exon11 c.22303-36A>G 0.292133 0.1766 0.397339 0.4170 0.2154 Uncertain 18_44610670_G->C 18 44610670 44610670 G C snp 895.77 0/1 99 87 43 44 0.51 intronic rs61316646 KATNAL2 AU NM_031303 exon12 c.24488+6838G>C 0.0698882 0.1359 0.0677 0.0867 Uncertain 18_44610718_T->C 18 44610718 44610718 T C snp 3258.77 1/1 99 117 0 117 1.0 intronic rs16954999 KATNAL2 AU NM_031303 exon12 c.24488+6886T>C 0.477835 0.3502 0.5085 0.29 Uncertain 18_44610879_A->G 18 44610879 44610879 A G snp 877.77 0/1 99 78 41 37 0.47 intronic rs7504798 KATNAL2 AU NM_031303 exon12 c.24488+7047A>G 0.318291 0.1895 Uncertain 18_44626462_TCTCTTCC->- 18 44626462 44626469 TCTCTTCC - indel 475.73 0/1 99 13 8 5 0.38 intronic rs3217429 KATNAL2 AU NM_031303 exon14 c.47280-162_47280-155delTCTCTTCC 0.0716853 0.1458 Uncertain 18_44626630_T->G 18 44626630 44626630 T G snp 990.77 0/1 99 89 46 43 0.48 exonic rs2289130 KATNAL2 AU synonymous SNV NM_031303 exon14 c.T1164G p.T388T 0.0716853 0.1458 0.059742 0.0818 0.1222 Uncertain 18_44627200_C->T 18 44627200 44627200 C T snp 1217.77 0/1 99 136 80 56 0.41 intronic rs117014566 KATNAL2 AU NM_031303 exon15 c.47892-36C>T 0.00379393 0.0159 0.000308 0.0015 0.0115 Uncertain 18_44635048_C->T 18 44635048 44635048 C T snp 2915.77 1/1 99 108 0 108 1.0 UTR3 rs2635058 HDHD2 AU 0.996605 1 0.996156 0.9991 0.9999 Uncertain 18_44641466_G->C 18 44641466 44641466 G C snp 224.77 0/1 99 15 8 7 0.47 intronic rs62096470 HDHD2 AU NM_032124 exon3 c.6450-36G>C 0.071885 0.1458 0.059077 0.0832 0.1226 Uncertain 18_44656759_A->T 18 44656759 44656759 A T snp 518.77 0/1 99 43 21 22 0.51 intronic rs78904615 HDHD2 AU NM_032124 exon4 c.21647+60A>T 0.072484 0.1468 0.043802 Uncertain 18_44693042_C->T 18 44693042 44693042 C T snp 1096.77 0/1 99 99 49 50 0.51 intronic rs75808931 IER3IP1 AR NM_016097 exon2 c.1361+9134C>T 0.0547125 0.1052 Uncertain 18_44693711_T->C 18 44693711 44693711 T C snp 56.74 1/1 6 2 0 2 1.0 intronic rs2668759 IER3IP1 AR NM_016097 exon3 c.20010-8846T>C 0.466653 0.3204 Uncertain 18_44702502_A->C 18 44702502 44702502 A C snp 1446.77 1/1 99 45 0 45 1.0 intronic rs12968552 IER3IP1 AR NM_016097 exon3 c.20010-55A>C 0.464058 0.3204 Uncertain 18_44702718_C->A 18 44702718 44702718 C A snp 1156.77 0/1 99 91 40 51 0.56 UTR5 rs2277717 IER3IP1 AR 0.33127 0.1825 Uncertain 18_44746460_A->T 18 44746460 44746460 A T snp 556.77 0/1 99 40 18 22 0.55 intronic rs1355593 SKOR2 AU NM_001278063 exon2 c.7922+79A>T 0.351438 0.2659 Uncertain 18_44757226_G->T 18 44757226 44757226 G T snp 399.77 0/1 99 36 20 16 0.44 intronic rs7236105 SKOR2 AU NM_001278063 exon4 c.18846-79G>T 0.315695 0.1845 Uncertain 18_44771481_C->T 18 44771481 44771481 C T snp 524.77 0/1 99 36 17 19 0.53 intronic rs17723754 SKOR2 AU NM_001278063 exon5 c.32894+128C>T 0.309105 0.1806 Uncertain 18_44773382_A->T 18 44773382 44773382 A T snp 1329.77 1/1 99 46 0 46 1.0 exonic rs9956387 SKOR2 AU nonsynonymous SNV NM_001278063 exon1 c.T2173A p.C725S 0.415935 0.2996 0.4925 0.2921 1 T 1.000 P -0.930 T Pathogenic 18_44774351_C->T 18 44774351 44774351 C T snp 2025.77 0/1 99 166 70 96 0.58 exonic rs536799808 SKOR2 AU nonsynonymous SNV NM_001278063 exon1 c.G1204A p.G402S 0.00279553 0.0139 0.0006 0.0147 0 D 1 D -0.860 T Pathogenic 18_45395846_A->- 18 45395846 45395846 A - indel 131.9 1/1 14 24 1 23 0.96 intronic rs34501809 SMAD2 AU NM_001135937 exon8 c.27610+39delA 0.520168 0.5526 0.4489 0.4936 Uncertain 18_45555613_G->C 18 45555613 45555613 G C snp 1079.77 1/1 78 39 0 39 1.0 UTR3 rs55732061 ZBTB7C AU 0.173722 0.2411 0.138036 0.2241 0.4016 Uncertain 18_45555829_T->C 18 45555829 45555829 T C snp 6841.77 1/1 99 250 1 249 1.0 exonic rs7231151 ZBTB7C AU synonymous SNV NM_001039360 exon3 c.A1662G p.T554T 0.411542 0.4673 0.340192 0.3740 0.4917 Uncertain 18_45566276_G->A 18 45566276 45566276 G A snp 1752.77 1/1 99 54 0 54 1.0 exonic rs45501996 ZBTB7C AU synonymous SNV NM_001039360 exon2 c.C1203T p.F401F 0.196486 0.2252 0.196832 0.1811 0.2530 Uncertain 18_45566669_C->T 18 45566669 45566669 C T snp 2459.77 0/1 99 197 95 102 0.52 exonic rs61729533 ZBTB7C AU synonymous SNV NM_001039360 exon2 c.G810A p.L270L 0.0209665 0.0873 0.001231 0.0171 0.0930 Uncertain 18_45691715_T->C 18 45691715 45691715 T C snp 584.77 0/1 99 41 15 26 0.63 intergenic rs9646522 ZBTB7C AU 0.368411 0.5308 Uncertain 18_45706604_TCCT->- 18 45706604 45706607 TCCT - indel 3462.73 0/1 99 116 54 62 0.53 intergenic rs146826971 ZBTB7C AU 0.0417332 0.0714 Uncertain 18_45711740_T->C 18 45711740 45711740 T C snp 1381.77 0/1 99 116 49 67 0.58 intergenic rs12455480 ZBTB7C AU 0.203075 0.1786 0.2906 0.1842 Uncertain 18_46146221_G->A 18 46146221 46146221 G A snp 340.78 1/1 27 9 0 9 1.0 intronic rs2306514 CTIF AU NM_001142397 exon3 c.180+105G>A 0.542133 0.8383 Uncertain 18_46196857_C->- 18 46196857 46196857 C - indel 730.73 1/1 78 26 0 26 1.0 intronic rs3830253 CTIF AU NM_001142397 exon7 c.51103-182delC Uncertain 18_46196880_T->G 18 46196880 46196880 T G snp 1421.77 1/1 99 42 0 42 1.0 intronic rs2279304 CTIF AU NM_001142397 exon7 c.51103-159T>G 0.727636 0.8512 Uncertain 18_46284587_T->C 18 46284587 46284587 T C snp 4455.77 1/1 99 158 0 158 1.0 exonic rs1038308 CTIF AU synonymous SNV NM_014772 exon8 c.T882C p.L294L 0.859026 0.8889 0.835922 0.8081 0.9001 Uncertain 18_46284840_T->C 18 46284840 46284840 T C snp 2171.77 1/1 99 73 0 73 1.0 intronic rs4556859 CTIF AU NM_001142397 exon9 c.138846+58T>C Uncertain 18_46343818_T->C 18 46343818 46343818 T C snp 755.77 0/1 99 63 34 29 0.46 intronic rs9951895 CTIF AU NM_001142397 exon11 c.197811+71T>C 0.60623 0.6389 Uncertain 18_46383785_T->C 18 46383785 46383785 T C snp 347.78 1/1 27 9 0 9 1.0 intronic rs937023 CTIF AU NM_001142397 exon12 c.238022-173T>C 0.316494 0.2421 Uncertain 18_46384073_A->G 18 46384073 46384073 A G snp 3348.77 1/1 99 111 0 111 1.0 intronic rs937021 CTIF AU NM_001142397 exon12 c.238076+61A>G 0.385583 0.2292 0.501971 Uncertain 18_46385948_A->G 18 46385948 46385948 A G snp 3879.77 1/1 99 134 0 134 1.0 UTR3 rs3752082 CTIF AU 0.573882 0.2698 0.666077 0.5362 0.2528 0.67 T 1.000 P -0.993 T Uncertain 18_46447817_G->C 18 46447817 46447817 G C snp 1764.77 0/1 99 194 112 82 0.42 exonic rs3809923 SMAD7 AU synonymous SNV NM_005904 exon4 c.C1206G p.G402G 0.0355431 0.122 0.001384 0.0289 0.1498 Uncertain 18_46448129_G->A 18 46448129 46448129 G A snp 2411.77 0/1 99 188 89 99 0.53 exonic rs3809922 SMAD7 AU synonymous SNV NM_005904 exon4 c.C894T p.L298L 0.0365415 0.121 0.001076 0.0287 0.1458 Uncertain 18_46474746_C->T 18 46474746 46474746 C T snp 2408.77 1/1 99 86 0 86 1.0 intronic rs3736242 SMAD7 AU NM_001190822 exon3 c.27012-7C>T 0.208466 0.254 0.208705 0.2261 0.2782 Uncertain 18_46645374_C->G 18 46645374 46645374 C G snp 1271.77 0/1 99 98 49 49 0.5 intronic rs7240784 DYM AR NM_017653 exon3 c.74872+78C>G 0.161142 0.0962 Uncertain 18_46808323_-->A 18 46808323 46808323 - A indel 70.73 0/1 99 13 8 5 0.38 intronic rs199585077 DYM AR NM_017653 exon8 c.237942-43insA 0.00219649 0.0109 0.0014 0.0167 Uncertain 18_46889624_-->T 18 46889624 46889624 - T indel 2753.73 1/1 99 111 0 111 1.0 intronic rs3840892 DYM AR NM_017653 exon12 c.319179+21insT 0.225439 0.2817 0.207268 0.1963 0.2729 Uncertain 18_47093790_C->T 18 47093790 47093790 C T snp 2753.77 1/1 99 103 0 103 1.0 intronic rs2000812 LIPG AU NM_006033 exon3 c.5133-21C>T 0.790136 0.5546 0.857989 0.7773 0.5493 Uncertain 18_47102102_A->G 18 47102102 47102102 A G snp 86.77 0/1 30 4 1 3 0.75 intronic rs3819166 LIPG AU NM_006033 exon5 c.13282+142A>G 0.797923 0.5605 Uncertain 18_47318079_T->G 18 47318079 47318079 T G snp 358.77 0/1 99 41 26 15 0.37 intronic rs2298629 ACAA2 AU NM_006111 exon4 c.7753+110T>G 0.134984 0.2728 Uncertain 18_47318503_T->A 18 47318503 47318503 T A snp 1120.77 0/1 99 96 43 53 0.55 intronic rs10502901 ACAA2 AU NM_006111 exon5 c.8305-18T>A 0.164736 0.2758 0.044518 0.1253 0.3001 Uncertain 18_47318626_T->C 18 47318626 47318626 T C snp 635.77 0/1 99 51 26 25 0.49 exonic rs11549285 ACAA2 AU nonsynonymous SNV NM_006111 exon6 c.A649G p.M217V 0.0599042 0.1885 0.015685 0.0395 0.1840 0.54 T 1.000 P -1.088 T 0.001 T 0.003 T Pathogenic 18_47320851_AT->- 18 47320851 47320852 AT - indel 184.73 0/1 99 21 15 6 0.29 intronic rs34944087 ACAA2 AU NM_006111 exon6 c.10581+54_10581+55delAT 0.239217 0.4058 Uncertain 18_47352732_T->- 18 47352732 47352732 T - indel 990.73 0/1 99 48 22 26 0.54 ncRNA_intronic rs34922262 SNHG22 AU 0.134984 0.2728 Uncertain 18_47361960_G->T 18 47361960 47361960 G T snp 763.77 0/1 99 61 31 30 0.49 ncRNA_intronic rs9955148 SNHG22 AU 0.16234 0.2758 Uncertain 18_47369758_C->T 18 47369758 47369758 C T snp 2076.77 0/1 99 189 97 92 0.49 exonic rs2276170 MYO5B AR synonymous SNV NM_001080467 exon34 c.G4464A p.L1488L 0.14377 0.2748 0.049021 0.1102 0.2944 Uncertain 18_47373397_AG->- 18 47373397 47373398 AG - indel 401.73 0/1 99 18 8 10 0.56 ncRNA_intronic rs145206431 SNHG22 AU 0.00239617 0.0089 Uncertain 18_47373466_G->A 18 47373466 47373466 G A snp 659.77 0/1 99 64 34 30 0.47 ncRNA_intronic rs3017176 SNHG22 AU 0.476238 0.3958 0.513653 0.5133 0.4107 Uncertain 18_47376128_A->G 18 47376128 47376128 A G snp 1227.77 1/1 87 43 0 43 1.0 ncRNA_exonic rs490697 SNHG22 AU 0.90016 0.9613 Uncertain 18_47383243_C->T 18 47383243 47383243 C T snp 1330.77 0/1 99 164 99 65 0.4 exonic rs1942418 MYO5B AR nonsynonymous SNV NM_001080467 exon30 c.G3962A p.G1321E 0.144369 0.2788 0.050571 0.1087 0.2997 1 T 1.0 P -0.901 T 0.049 T 0.016 T Pathogenic 18_47398504_T->C 18 47398504 47398504 T C snp 469.77 0/1 99 50 30 20 0.4 intronic rs3826580 MYO5B AR NM_001080467 exon14 c.45696-32T>C 0.29972 0.4246 0.215819 0.2534 0.4201 Uncertain 18_47398549_G->A 18 47398549 47398549 G A snp 673.77 0/1 99 74 39 35 0.47 exonic rs3826579 MYO5B AR synonymous SNV NM_001080467 exon27 c.C3591T p.Y1197Y 0.29992 0.4256 0.214509 0.2534 0.4200 Uncertain 18_47401935_C->T 18 47401935 47401935 C T snp 627.77 0/1 99 51 27 24 0.47 intronic rs2276172 MYO5B AR NM_001080467 exon15 c.49216-121C>T 0.301118 0.4276 Uncertain 18_47401999_A->T 18 47401999 47401999 A T snp 1566.77 0/1 99 135 64 71 0.53 intronic rs2276173 MYO5B AR NM_001080467 exon15 c.49216-57A>T 0.301318 0.4276 Uncertain 18_47402280_A->C 18 47402280 47402280 A C snp 629.77 1/1 48 18 0 18 1.0 intronic rs657424 MYO5B AR NM_001080467 exon15 c.49357+83A>C 0.883786 0.9583 Uncertain 18_47404399_A->G 18 47404399 47404399 A G snp 532.77 0/1 99 44 22 22 0.5 intronic rs2276175 MYO5B AR NM_001080467 exon16 c.51412+147A>G 0.301118 0.4276 Uncertain 18_47405198_C->T 18 47405198 47405198 C T snp 34.77 0/1 63 7 4 3 0.43 intronic rs596778 MYO5B AR NM_001080467 exon17 c.52474-116C>T 0.475639 0.3889 Uncertain 18_47405304_A->G 18 47405304 47405304 A G snp 831.77 0/1 99 75 41 34 0.45 intronic rs2276176 MYO5B AR NM_001080467 exon17 c.52474-10A>G 0.289736 0.4276 0.202624 0.2496 0.4183 Uncertain 18_47405425_-->GAG 18 47405425 47405425 - GAG indel 5133.73 0/1 99 207 106 101 0.49 exonic rs3841750 MYO5B AR nonframeshift insertion NM_001080467 exon24 c.3165_3166insCTC p.M1056delinsLM 0.404752 0.5685 0.301872 0.3420 0.5461 Uncertain 18_47405525_T->C 18 47405525 47405525 T C snp 1151.77 0/1 99 110 59 51 0.46 intronic rs4939602 MYO5B AR NM_001080467 exon17 c.52620+65T>C 0.301917 0.4276 Uncertain 18_47405530_C->T 18 47405530 47405530 C T snp 1128.77 0/1 99 103 55 48 0.47 intronic rs4939603 MYO5B AR NM_001080467 exon17 c.52620+70C>T 0.301118 0.4276 Uncertain 18_47406913_A->G 18 47406913 47406913 A G snp 1013.77 0/1 99 86 45 41 0.48 intronic rs1217632 MYO5B AR NM_001080467 exon18 c.53985+88A>G 0.593251 0.5308 Uncertain 18_47406938_T->C 18 47406938 47406938 T C snp 650.77 0/1 99 64 37 27 0.42 intronic rs1217633 MYO5B AR NM_001080467 exon18 c.53985+113T>C 0.59345 0.5327 Uncertain 18_47406943_T->G 18 47406943 47406943 T G snp 868.77 0/1 99 58 25 33 0.57 intronic rs2276177 MYO5B AR NM_001080467 exon18 c.53985+118T>G 0.229433 0.4206 Uncertain 18_47438660_C->T 18 47438660 47438660 C T snp 141.03 1/1 12 4 0 4 1.0 intronic rs2276167 MYO5B AR NM_001080467 exon23 c.85703+117C>T 0.129393 0.2698 Uncertain 18_47455783_T->C 18 47455783 47455783 T C snp 93.28 1/1 9 3 0 3 1.0 intronic rs2298627 MYO5B AR NM_001080467 exon24 c.103041-98T>C 0.146565 0.2837 Uncertain 18_47455805_-->A 18 47455805 47455805 - A indel 259.77 1/1 21 7 0 7 1.0 intronic rs3831421 MYO5B AR NM_001080467 exon24 c.103041-76insA 0.145966 0.2808 Uncertain 18_47455856_A->G 18 47455856 47455856 A G snp 151.03 1/1 12 9 0 9 1.0 intronic rs10853588 MYO5B AR NM_001080467 exon24 c.103041-25A>G 0.130591 0.2808 0.034446 0.1578 0.3773 Uncertain 18_47500836_G->A 18 47500836 47500836 G A snp 3379.77 0/1 99 250 126 124 0.5 exonic rs11082795 MYO5B AR synonymous SNV NM_001080467 exon10 c.C1206T p.N402N 0.0836661 0.2222 0.013622 0.0585 0.2565 Uncertain 18_47563299_T->C 18 47563299 47563299 T C snp 4332.77 1/1 99 162 0 162 1.0 exonic rs1815930 MYO5B AR nonsynonymous SNV NM_001080467 exon4 c.A376G p.T126A 0.973442 1 0.977207 0.9931 1 1 T 1.0 P -0.930 T 0.0 T 0.0 T Pathogenic 18_47563534_A->G 18 47563534 47563534 A G snp 99.28 1/1 9 3 0 3 1.0 intronic rs9955800 MYO5B AR NM_001080467 exon37 c.210524+170A>G 0.973442 1 Uncertain 18_47583036_C->A 18 47583036 47583036 C A snp 2759.77 1/1 99 93 0 93 1.0 intronic rs2852104 MYO5B AR NM_001080467 exon39 c.228908+1288C>A 0.480831 0.5952 Uncertain 18_47778188_C->G 18 47778188 47778188 C G snp 1553.77 0/1 99 101 42 59 0.58 intronic rs117097265 CFAP53 AR NM_145020 exon5 c.24404+34C>G 0.00599042 0.0288 0.000329 0.0027 0.0327 Uncertain 18_47787402_G->A 18 47787402 47787402 G A snp 1438.77 1/1 99 53 0 53 1.0 intronic rs1899671 CFAP53 AR NM_145020 exon6 c.33683-31G>A 0.669928 0.7917 0.636766 0.6972 0.8008 Uncertain 18_47788256_C->T 18 47788256 47788256 C T snp 309.78 1/1 24 8 0 8 1.0 intronic rs698617 CFAP53 AR NM_145020 exon7 c.34609-103C>T 0.902157 0.9702 Uncertain 18_47802971_A->G 18 47802971 47802971 A G snp 3243.77 1/1 99 106 0 106 1.0 intronic rs10775495 MBD1 AU NM_001204136 exon12 c.7033-60A>G 0.687101 0.7897 Uncertain 18_47803354_C->T 18 47803354 47803354 C T snp 6143.77 1/1 99 207 0 207 1.0 exonic rs140686 MBD1 AU synonymous SNV NM_015846 exon4 c.G240A p.A80A 0.221046 0.5784 0.061587 0.1655 0.6146 Uncertain 18_47806092_A->G 18 47806092 47806092 A G snp 965.77 1/1 72 27 0 27 1.0 intronic rs1562004 MBD1 AU NM_001204136 exon15 c.10254-160A>G 0.407548 0.5893 Uncertain 18_47810251_C->G 18 47810251 47810251 C G snp 6282.77 1/1 99 220 0 220 1.0 intronic rs3819217 CXXC1 AU NM_001101654 exon6 c.1301-12C>G 0.402955 0.5903 0.290558 0.3743 0.6255 Uncertain 18_47810351_A->G 18 47810351 47810351 A G snp 5920.77 1/1 99 211 0 211 1.0 exonic rs7228084 CXXC1 AU synonymous SNV NM_001101654 exon10 c.T1338C p.T446T 0.714457 0.7907 0.686299 0.7266 0.8031 Uncertain 18_47810731_T->C 18 47810731 47810731 T C snp 1305.77 1/1 93 47 0 47 1.0 intronic rs2276367 CXXC1 AU NM_001101654 exon7 c.1785-16T>C 0.911142 0.9702 0.880055 0.9181 0.9799 Uncertain 18_47902337_A->G 18 47902337 47902337 A G snp 957.77 1/1 69 34 1 33 0.97 intronic rs1970679 SKA1 AU NM_145060 exon2 c.88+49A>G 0.752396 0.8115 0.720274 0.7237 0.8066 Uncertain 18_47906416_A->G 18 47906416 47906416 A G snp 319.78 1/1 24 12 0 12 1.0 intronic rs1441293 SKA1 AU NM_145060 exon3 c.4295-79A>G 0.751597 0.8075 Uncertain 18_47906690_T->C 18 47906690 47906690 T C snp 1054.77 1/1 75 40 0 40 1.0 intronic rs1441294 SKA1 AU NM_145060 exon3 c.4420+70T>C 0.751597 0.8075 Uncertain 18_47906719_T->G 18 47906719 47906719 T G snp 915.77 1/1 66 31 0 31 1.0 intronic rs1441295 SKA1 AU NM_145060 exon3 c.4420+99T>G 0.751597 0.8075 Uncertain 18_47908556_G->A 18 47908556 47908556 G A snp 2240.77 1/1 99 76 0 76 1.0 exonic rs6507992 SKA1 AU nonsynonymous SNV NM_001039535 exon4 c.G271A p.V91I 0.804113 0.88 0.698831 0.6898 0.9026 1 T 1.000 P -0.953 T 0.0 T 0.003 T Pathogenic 18_47911438_C->A 18 47911438 47911438 C A snp 218.84 1/1 18 6 0 6 1.0 intronic rs7234010 SKA1 AU NM_145060 exon5 c.9385-147C>A 0.661142 0.7282 Uncertain 18_47917735_A->C 18 47917735 47917735 A C snp 1091.77 1/1 81 34 0 34 1.0 intronic rs2044012 SKA1 AU NM_145060 exon6 c.15463+72A>C 0.488019 0.6091 Uncertain 18_47918639_A->C 18 47918639 47918639 A C snp 1109.77 1/1 81 37 0 37 1.0 UTR3 rs10460085 SKA1 AU 0.4373 0.6091 0.329310 0.4000 0.6375 Uncertain 18_48190271_T->G 18 48190271 48190271 T G snp 550.77 0/1 99 49 29 20 0.41 UTR5 rs3752085 MAPK4 AU 0.659944 0.753 Uncertain 18_48190440_G->A 18 48190440 48190440 G A snp 2470.77 0/1 99 228 122 106 0.46 exonic rs3752087 MAPK4 AU nonsynonymous SNV NM_001292040 exon2 c.G112A p.V38M 0.307508 0.4187 0.314672 0.3656 0.3857 0.08 T 0.0 P -0.996 T 0.939 T 0.729 D Pathogenic 18_48326315_G->A 18 48326315 48326315 G A snp 376.77 0/1 99 34 17 17 0.5 intronic rs16960483 MRO AU NM_031939 exon2 c.699-90G>A 0.219449 0.256 Uncertain 18_48326378_G->T 18 48326378 48326378 G T snp 729.77 0/1 99 71 35 36 0.51 intronic rs2586778 MRO AU NM_031939 exon2 c.699-27G>T 0.439297 0.3631 0.440566 0.5005 0.3600 Uncertain 18_48327815_G->A 18 48327815 48327815 G A snp 552.77 0/1 99 69 42 27 0.39 exonic rs2276186 MRO AU synonymous SNV NM_001127176 exon5 c.C531T p.A177A 0.429513 0.3512 0.433031 0.4941 0.3471 Uncertain 18_48331524_G->A 18 48331524 48331524 G A snp 481.77 0/1 99 39 20 19 0.49 exonic rs2586776 MRO AU synonymous SNV NM_001127174 exon4 c.C429T p.D143D 0.452875 0.3363 0.468322 0.4736 0.3648 Uncertain 18_48331553_T->C 18 48331553 48331553 T C snp 700.77 0/1 99 63 31 32 0.51 exonic rs2849233 MRO AU nonsynonymous SNV NM_001127174 exon4 c.A400G p.T134A 0.25639 0.2798 0.304552 0.3613 0.3075 1 T 0.806 P -0.919 T 0.978 D 0.719 D Pathogenic 18_48333203_C->G 18 48333203 48333203 C G snp 2027.77 0/1 99 153 68 85 0.56 exonic rs4940019 MRO AU nonsynonymous SNV NM_001127174 exon3 c.G117C p.R39S 0.463059 0.4673 0.400661 0.5139 0.4933 0.72 T 0.0 P -0.911 T 0.519 P 0.251 P Pathogenic 18_48446953_C->T 18 48446953 48446953 C T snp 439.77 0/1 99 60 40 20 0.33 intronic rs674210 ME2 AU NM_002396 exon8 c.24745+18C>T 0.729233 0.6498 0.669334 0.6789 0.6574 Uncertain 18_48577782_G->C 18 48577782 48577782 G C snp 509.77 0/1 99 52 28 24 0.46 intronic rs7229678 SMAD4 AU,AD NM_005359 exon4 c.2278+2088G>C 0.376398 0.4583 0.2970 0.5455 0.4 T 0.0 P -0.955 T Uncertain 18_48723146_GCCGCCGCG->- 18 48723146 48723154 GCCGCCGCG - indel 3938.73 0/1 99 81 28 53 0.65 exonic rs147438518 MEX3C AU nonframeshift deletion NM_016626 exon1 c.537_545del p.179_182del 0.402724 0.4212 0.2913 ID=COSM1589468;OCCURENCE=1(endometrium) Uncertain 18_48723217_C->T 18 48723217 48723217 C T snp 1407.77 1/1 99 49 0 49 1.0 exonic rs35675106 MEX3C AU synonymous SNV NM_016626 exon1 c.G474A p.P158P 0.949281 1 0.955417 0.9849 1 Uncertain 18_48723439_C->T 18 48723439 48723439 C T snp 89.77 0/1 28 8 2 6 0.75 exonic rs4396619 MEX3C AU synonymous SNV NM_016626 exon1 c.G252A p.A84A 0.28774 0.2202 0.5332 0.4565 Uncertain 18_49867224_T->C 18 49867224 49867224 T C snp 3718.77 1/1 99 130 0 130 1.0 exonic rs9951523 DCC AU,AD nonsynonymous SNV NM_005215 exon1 c.T67C p.F23L 0.995807 0.998 0.989159 0.9862 0.9998 0.65 T 1.000 P -0.966 T 0.0 T 0.0 T Pathogenic 18_50432602_C->G 18 50432602 50432602 C G snp 1149.77 0/1 99 93 46 47 0.51 exonic rs2229080 DCC AU,AD nonsynonymous SNV NM_005215 exon3 c.C601G p.R201G 0.477436 0.5387 0.359373 0.4447 0.5527 0.03 T 1.000 P -0.913 T 0.798 T 0.483 P ID=CM973390;DIS=Colorectal cancer, risk, association with;TAG=DP;PUB=9440618 DP Pathogenic 18_50450240_T->G 18 50450240 50450240 T G snp 1090.77 0/1 99 106 55 51 0.48 intronic rs2276204 DCC AU,AD NM_005215 exon4 c.583070+13T>G 0.289137 0.2123 0.421652 0.3735 0.2161 Uncertain 18_50451500_A->C 18 50451500 50451500 A C snp 43.77 0/1 66 4 2 2 0.5 intronic rs2298655 DCC AU,AD NM_005215 exon5 c.584446-103A>C 0.289736 0.2123 Uncertain 18_50451821_T->G 18 50451821 50451821 T G snp 1806.77 0/1 99 125 50 75 0.6 intronic rs2298654 DCC AU,AD NM_005215 exon5 c.584583+81T>G 0.289337 0.2123 Uncertain 18_50592640_A->G 18 50592640 50592640 A G snp 447.77 0/1 99 43 25 18 0.42 intronic rs28683803 DCC AU,AD NM_005215 exon7 c.725379+104A>G 0.273562 0.3819 Uncertain 18_50683691_G->A 18 50683691 50683691 G A snp 329.77 0/1 99 24 12 12 0.5 intronic rs2276147 DCC AU,AD NM_005215 exon8 c.816568-34G>A 0.0790735 0.127 0.054436 0.0468 0.1233 Uncertain 18_50731823_T->C 18 50731823 50731823 T C snp 287.77 0/1 99 32 21 11 0.34 intronic rs2298606 DCC AU,AD NM_005215 exon10 c.864577+89T>C 0.340056 0.1548 Uncertain 18_50731829_A->G 18 50731829 50731829 A G snp 789.77 1/1 57 27 0 27 1.0 intronic rs4497763 DCC AU,AD NM_005215 exon10 c.864577+95A>G 0.996206 1 Uncertain 18_50831933_C->T 18 50831933 50831933 C T snp 688.77 0/1 99 69 38 31 0.45 intronic rs1431195 DCC AU,AD NM_005215 exon13 c.964790-14C>T 0.166134 0.1567 0.153077 0.1065 0.1499 Uncertain 18_51052896_T->A 18 51052896 51052896 T A snp 1074.77 0/1 99 88 45 43 0.49 intronic rs2270952 DCC AU,AD NM_005215 exon28 c.1185829-90T>A 0.172324 0.1865 Uncertain 18_51056915_G->T 18 51056915 51056915 G T snp 1734.77 0/1 99 147 72 75 0.51 intronic rs2270953 DCC AU,AD NM_005215 exon29 c.1189776-18G>T 0.182109 0.1865 0.124250 0.1585 0.1961 Uncertain 18_51686057_G->C 18 51686057 51686057 G C snp 817.77 0/1 99 43 16 27 0.63 intronic rs9946304 MBD2 AU 0.246805 0.4127 Uncertain 18_51731308_G->A 18 51731308 51731308 G A snp 411.77 0/1 99 21 9 12 0.57 intronic rs140691 MBD2 AU NM_003927 exon6 c.45221-59G>A 0.36881 0.5486 Uncertain 18_51795847_G->T 18 51795847 51795847 G T snp 181.77 0/1 99 28 16 12 0.43 upstream rs3730668 POLI AU 0.434704 0.6687 Uncertain 18_51795958_CGA->- 18 51795958 51795960 CGA - indel 927.73 0/1 99 59 34 25 0.42 exonic rs10584411 POLI AU nonframeshift deletion NM_007195 exon1 c.42_44del p.14_15del 0.783946 0.7054 0.761172 0.7635 0.7187 ID=COSM288348;OCCURENCE=1(endometrium),1(pancreas),10(large_intestine),2(upper_aerodigestive_tract) Uncertain 18_51820805_G->A 18 51820805 51820805 G A snp 1357.77 0/1 99 106 53 53 0.5 exonic rs8305 POLI AU nonsynonymous SNV NM_007195 exon10 c.G2191A p.A731T 0.789137 0.7054 0.778034 0.7282 0.7238 0.92 T 0.000 P -0.992 T 0.001 T 0.001 T ID=CM058421;DIS=Adenocarcinoma/squamous cell carcinoma, association with;TAG=DP;PUB=15609317 DP Pathogenic 18_51880841_C->T 18 51880841 51880841 C T snp 365.77 0/1 99 50 30 20 0.4 intronic rs7242085 STARD6 AU NM_139171 exon6 c.29792-12C>T 0.393371 0.6736 0.321665 0.4263 0.6970 Uncertain 18_51880986_C->T 18 51880986 51880986 C T snp 118.77 0/1 99 30 23 7 0.23 upstream rs1370363 STARD6 AU 0.781949 0.7083 0.764321 0.7194 0.7230 Uncertain 18_51889056_A->G 18 51889056 51889056 A G snp 71.77 0/1 99 10 7 3 0.3 intronic rs6508290 C18orf54 AU NM_173529 exon4 c.2198-84A>G 0.760383 0.7044 Uncertain 18_51900788_-->TTAA 18 51900788 51900788 - TTAA indel 1030.73 0/1 99 39 20 19 0.49 intronic rs5825070 C18orf54 AU NM_173529 exon7 c.13712+134insTTAA 0.760783 0.7054 Uncertain 18_51904461_-->TTTA 18 51904461 51904461 - TTTA indel 1643.73 1/1 78 26 0 26 1.0 intronic rs35286005 C18orf54 AU NM_173529 exon8 c.17601-82insTTTA 0.946685 0.996 Uncertain 18_51904498_G->A 18 51904498 51904498 G A snp 823.77 0/1 99 60 29 31 0.52 intronic rs3753057 C18orf54 AU NM_173529 exon8 c.17601-45G>A 0.178115 0.2877 0.187663 0.2254 0.2733 Uncertain 18_51904641_A->G 18 51904641 51904641 A G snp 1325.77 0/1 99 140 76 64 0.46 UTR3 rs3753056 C18orf54 AU 0.760583 0.7054 0.741811 0.7152 0.7147 Uncertain 18_51904644_G->A 18 51904644 51904644 G A snp 1335.77 0/1 99 138 76 62 0.45 UTR3 rs3753055 C18orf54 AU 0.761781 0.7054 0.742888 0.7153 0.7143 Uncertain 18_52265117_T->C 18 52265117 52265117 T C snp 221.77 0/1 99 227 197 30 0.13 exonic rs79727013 DYNAP AU nonsynonymous SNV NM_173629 exon3 c.T374C p.M125T 1 T 0.999 N -0.960 T 0.001 T 0.0 T Pathogenic 18_52265308_A->C 18 52265308 52265308 A C snp 1928.77 0/1 99 180 93 87 0.48 exonic rs9947055 DYNAP AU nonsynonymous SNV NM_173629 exon3 c.A565C p.T189P 0.536741 0.7054 0.516074 0.5334 0.7095 0.08 T 0.0 P -0.961 T 0.023 T 0.01 T Pathogenic 18_52555398_G->A 18 52555398 52555398 G A snp 2985.77 1/1 99 103 0 103 1.0 intronic rs4343367 RAB27B AU NM_004163 exon5 c.10533+49G>A 0.961661 0.9931 0.967323 0.9877 0.9954 Uncertain 18_52571434_T->C 18 52571434 52571434 T C snp 337.78 1/1 27 10 0 10 1.0 UTR3 rs4801109 CCDC68 AU 0.775958 0.994 Uncertain 18_52571741_C->T 18 52571741 52571741 C T snp 807.77 1/1 63 21 0 21 1.0 intronic rs4801110 CCDC68 AU NM_001143829 exon1 c.58+95C>T 0.977037 1 Uncertain 18_52575002_G->A 18 52575002 52575002 G A snp 3345.77 1/1 99 133 1 132 0.99 intronic rs1944382 CCDC68 AU NM_001143829 exon2 c.3428-14G>A 0.976038 1 0.979548 0.9942 1 Uncertain 18_52585072_ACACACAC->- 18 52585072 52585079 ACACACAC - indel 3119.73 1/1 99 35 0 35 1.0 intronic rs138785518 CCDC68 AU NM_001143829 exon3 c.13555-71_13555-64delACACACAC Uncertain 18_52586691_A->G 18 52586691 52586691 A G snp 182.9 1/1 15 5 0 5 1.0 intronic rs8090983 CCDC68 AU NM_001143829 exon4 c.15019+84A>G 0.333866 0.5397 Uncertain 18_52595968_G->A 18 52595968 52595968 G A snp 772.77 0/1 99 86 51 35 0.41 intronic CCDC68 AU NM_001143829 exon5 c.24442-62G>A Uncertain 18_52608329_C->A 18 52608329 52608329 C A snp 2560.77 1/1 99 97 0 97 1.0 intronic rs8087479 CCDC68 AU NM_001143829 exon9 c.36726+15C>A 0.985423 1 0.983541 0.9955 0.9998 Uncertain 18_52895531_T->C 18 52895531 52895531 T C snp 1674.77 0/1 99 135 64 71 0.53 exonic rs8766 TCF4 AD synonymous SNV NM_001243232 exon15 c.A1728G p.S576S 0.342452 0.4008 0.364678 0.3714 0.4446 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=criteria_provided\x2c_multiple_submitters\x2c_no_conflicts|criteria_provided\x2c_single_submitter;CLNACC=RCV000079460.4|RCV000128388.1;CLNDSDB=MedGen|MedGen;CLNDSDBID=CN169374|CN221809 Uncertain 18_52895657_C->T 18 52895657 52895657 C T snp 222.77 0/1 99 16 7 9 0.56 intronic rs10221362 TCF4 AD NM_001083962 exon2 c.137+65C>T 0.22504 0.3958 Uncertain 18_52896509_G->A 18 52896509 52896509 G A snp 77.77 0/1 69 5 2 3 0.6 intronic rs2276195 TCF4 AD NM_001083962 exon3 c.852+202G>A 0.246805 0.3958 Uncertain 18_52921606_C->T 18 52921606 52921606 C T snp 151.77 0/1 99 8 3 5 0.63 intronic rs1539950 TCF4 AD NM_001083962 exon6 c.26272-121C>T 0.220847 0.3036 Uncertain 18_52921673_T->C 18 52921673 52921673 T C snp 332.77 0/1 99 36 21 15 0.42 intronic rs1539951 TCF4 AD NM_001083962 exon6 c.26272-54T>C 0.221845 0.3065 Uncertain 18_52922000_T->C 18 52922000 52922000 T C snp 198.77 0/1 60 8 2 6 0.75 intronic rs62092442 TCF4 AD NM_001083962 exon6 c.26476+69T>C 0.306909 0.3115 Uncertain 18_52928505_G->A 18 52928505 52928505 G A snp 120.78 0/1 25 5 1 4 0.8 intronic rs3817527 TCF4 AD NM_001083962 exon9 c.33241-191G>A 0.113618 0.2232 Uncertain 18_52942827_G->A 18 52942827 52942827 G A snp 1739.77 1/1 99 60 0 60 1.0 intronic rs1788027 TCF4 AD NM_001083962 exon11 c.47394-22G>A 0.570288 0.5635 0.533446 0.4892 0.5778 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000147727.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 18_53070914_G->A 18 53070914 53070914 G A snp 2017.77 1/1 99 69 0 69 1.0 exonic rs17522826 TCF4 AD nonsynonymous SNV NM_001243232 exon1 c.C32T p.A11V 0.192292 0.4464 0.2173 0.5260 0 D 1.000 P -0.939 T 0.034 T 0.032 T CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000147721.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 18_53131203_GTGTGTGA->- 18 53131203 53131210 GTGTGTGA - indel 2655.73 1/1 55 29 1 28 0.97 intronic rs143184224 TCF4 AD NM_001083962 exon17 c.235851-103_235851-96delGTGTGTGA Uncertain 18_53131488_C->A 18 53131488 53131488 C A snp 56.74 1/1 6 2 0 2 1.0 intronic rs3760600 TCF4 AD NM_001083962 exon17 c.235913+120C>A 0.545128 0.4157 Uncertain 18_53146303_T->C 18 53146303 53146303 T C snp 59.74 1/1 6 3 0 3 1.0 intronic rs2924331 TCF4 AD NM_001083962 exon17 c.235913+14935T>C 0.663538 0.9901 Uncertain 18_53177670_T->C 18 53177670 53177670 T C snp 54.74 1/1 6 2 0 2 1.0 intronic rs9957668 TCF4 AD NM_001243231 exon18 c.282354-139T>C 0.346046 0.495 Uncertain 18_53177740_A->T 18 53177740 53177740 A T snp 211.77 0/1 99 20 11 9 0.45 intronic rs9954890 TCF4 AD NM_001243231 exon18 c.282354-69A>T 0.342652 0.495 Uncertain 18_53177774_G->C 18 53177774 53177774 G C snp 384.77 0/1 99 31 14 17 0.55 intronic rs9964328 TCF4 AD NM_001243231 exon18 c.282354-35G>C 0.342652 0.495 0.3558 0.5253 Uncertain 18_53252388_G->A 18 53252388 53252388 G A snp 343.78 1/1 27 9 0 9 1.0 intronic rs599550 TCF4 AD NM_001083962 exon18 c.357055-122G>A 0.93151 0.996 Uncertain 18_53298626_G->T 18 53298626 53298626 G T snp 949.77 0/1 99 105 61 44 0.42 intergenic rs774975346 TCF4 AD Uncertain 18_53302845_C->T 18 53302845 53302845 C T snp 1131.77 1/1 84 34 0 34 1.0 intergenic rs610362 TCF4 AD 0.996805 1 Uncertain 18_53303101_C->G 18 53303101 53303101 C G snp 2490.77 1/1 99 84 0 84 1.0 intergenic rs611326 TCF4 AD 0.996805 1 0.998774 0.9994 1 1 T 0.0 P -0.967 T 0.0 T 0.0 T Uncertain 18_53727502_T->C 18 53727502 53727502 T C snp 4811.77 1/1 99 166 0 166 1.0 intergenic rs2535724 LOC101927273 AU 0.815296 0.9444 Uncertain 18_54270044_A->T 18 54270044 54270044 A T snp 298.78 1/1 24 8 0 8 1.0 downstream rs661981 TXNL1 AU 0.932708 1 Uncertain 18_54339818_C->G 18 54339818 54339818 C G snp 3485.77 1/1 99 137 0 137 1.0 exonic rs568078 WDR7 AU synonymous SNV NM_015285 exon2 c.C72G p.A24A 0.90016 1 0.907889 0.9728 1 Uncertain 18_54339977_A->G 18 54339977 54339977 A G snp 227.84 1/1 18 7 0 7 1.0 intronic rs566956 WDR7 AU NM_052834 exon2 c.159+72A>G 0.89996 1 Uncertain 18_54346482_T->G 18 54346482 54346482 T G snp 1308.77 1/1 96 38 0 38 1.0 intronic rs683248 WDR7 AU NM_052834 exon3 c.6816-80T>G 0.90016 0.999 Uncertain 18_54346510_G->A 18 54346510 54346510 G A snp 2468.77 1/1 99 82 0 82 1.0 intronic rs597585 WDR7 AU NM_052834 exon3 c.6816-52G>A 0.900359 1 Uncertain 18_54346745_-->T 18 54346745 54346745 - T indel 661.73 1/1 52 42 1 41 0.98 intronic rs11452823 WDR7 AU NM_052834 exon3 c.6923+76insT 0.758586 0.8373 Uncertain 18_54346804_T->G 18 54346804 54346804 T G snp 368.77 1/1 30 11 0 11 1.0 intronic rs525682 WDR7 AU NM_052834 exon3 c.6923+135T>G 0.900958 1 Uncertain 18_54348514_C->T 18 54348514 54348514 C T snp 1455.77 1/1 99 59 0 59 1.0 intronic rs605067 WDR7 AU NM_052834 exon4 c.8797-29C>T 0.900958 1 0.907966 0.9729 1 Uncertain 18_54348650_T->C 18 54348650 54348650 T C snp 486.77 1/1 36 16 0 16 1.0 intronic rs474607 WDR7 AU NM_052834 exon4 c.8876+28T>C 0.900958 1 0.908273 0.9730 1 Uncertain 18_54353382_A->T 18 54353382 54353382 A T snp 762.77 1/1 57 21 0 21 1.0 intronic rs609195 WDR7 AU NM_052834 exon6 c.13517+119A>T 0.901358 1 Uncertain 18_54354074_C->T 18 54354074 54354074 C T snp 1188.77 1/1 84 44 0 44 1.0 intronic rs1943016 WDR7 AU NM_052834 exon7 c.14339-11C>T 0.730431 0.9573 0.8554 0.9656 Uncertain 18_54354076_-->TC 18 54354076 54354076 - TC indel 2111.73 1/1 99 44 0 44 1.0 intronic rs397693910 WDR7 AU NM_052834 exon7 c.14339-9insTC 0.901558 1 0.9723 0.9998 Uncertain 18_54354239_T->C 18 54354239 54354239 T C snp 436.77 1/1 33 14 0 14 1.0 intronic rs576095 WDR7 AU NM_052834 exon7 c.14459+34T>C 0.901358 1 0.907978 0.9735 1 Uncertain 18_54359062_G->A 18 54359062 54359062 G A snp 606.77 1/1 45 25 0 25 1.0 intronic rs2110414 WDR7 AU NM_052834 exon9 c.19302+14G>A 0.730831 0.9573 0.691296 0.8378 0.9634 Uncertain 18_54363747_A->G 18 54363747 54363747 A G snp 381.77 1/1 30 11 0 11 1.0 intronic rs1468742 WDR7 AU NM_052834 exon12 c.23947+54A>G 0.556909 0.5923 Uncertain 18_54426268_TTTG->- 18 54426268 54426271 TTTG - indel 1429.73 1/1 66 30 0 30 1.0 intronic rs58166764 WDR7 AU NM_052834 exon16 c.86438+84_86438+87delTTTG Uncertain 18_54605698_A->G 18 54605698 54605698 A G snp 935.77 0/1 99 81 43 38 0.47 intronic rs3213880 WDR7 AU NM_052834 exon23 c.266017-65A>G 0.0527157 0.2133 Uncertain 18_54694452_C->T 18 54694452 54694452 C T snp 3906.77 1/1 99 136 0 136 1.0 UTR3 rs3745033 WDR7 AU 0.348842 0.4752 0.277496 0.4105 0.5509 Uncertain 18_54815025_G->T 18 54815025 54815025 G T snp 911.77 0/1 99 67 30 37 0.55 exonic rs11151997 BOD1L2 AU nonsynonymous SNV NM_001257964 exon1 c.G482T p.G161V 0.568091 0.5794 0.5502 0.5508 0.13 T 0.0 P -0.935 T 0.148 T 0.012 T Pathogenic 18_55019964_CA->- 18 55019964 55019965 CA - indel 340.73 0/1 98 20 8 12 0.6 UTR5 ST8SIA3 AU Uncertain 18_55027212_T->G 18 55027212 55027212 T G snp 3485.77 1/1 99 122 1 121 0.99 intronic rs1942964 ST8SIA3 AU NM_015879 exon4 c.7148-13T>G 0.328275 0.4008 0.370291 0.4426 0.3865 Uncertain 18_55134346_A->G 18 55134346 55134346 A G snp 1598.77 0/1 99 130 63 67 0.52 intronic rs76994448 ONECUT2 AU NM_004852 exon2 c.40720-9322A>G 0.104034 0.3641 0.0251 0.3333 Uncertain 18_55134359_A->G 18 55134359 55134359 A G snp 1602.77 0/1 99 139 71 68 0.49 intronic rs75667305 ONECUT2 AU NM_004852 exon2 c.40720-9309A>G 0.104034 0.3641 0.0254 0.3333 Uncertain 18_55143589_A->G 18 55143589 55143589 A G snp 1612.77 1/1 99 57 0 57 1.0 intronic rs618953 ONECUT2 AU NM_004852 exon2 c.40720-79A>G 0.931709 1 Uncertain 18_55143766_C->T 18 55143766 55143766 C T snp 2392.77 0/1 99 214 114 100 0.47 exonic rs3745074 ONECUT2 AU synonymous SNV NM_004852 exon2 c.C1326T p.F442F 0.392372 0.4673 0.285839 0.2964 0.4573 1.000 P -1.060 T Likely benign 18_55144025_A->- 18 55144025 55144025 A - indel 124.73 0/1 99 14 5 9 0.64 UTR3 rs3833204 ONECUT2 AU 0.391573 0.4663 Uncertain 18_55144035_C->T 18 55144035 55144035 C T snp 152.77 0/1 99 10 5 5 0.5 UTR3 rs3745072 ONECUT2 AU 0.391573 0.4663 Uncertain 18_55144045_G->A 18 55144045 55144045 G A snp 153.77 0/1 57 7 2 5 0.71 UTR3 rs3745071 ONECUT2 AU 0.391773 0.4663 Uncertain 18_55221457_G->A 18 55221457 55221457 G A snp 2104.77 0/1 99 220 122 98 0.45 intronic rs77695117 FECH AR NM_000140 exon3 c.3548-34G>A 0.0219649 0.0923 0.000308 0.0088 0.0891 Uncertain 18_55221648_T->C 18 55221648 55221648 T C snp 1115.77 0/1 99 107 59 48 0.45 exonic rs536560 FECH AR synonymous SNV NM_000140 exon9 c.A921G p.P307P 0.757588 0.628 0.764647 0.7030 0.6666 Uncertain 18_55221983_A->T 18 55221983 55221983 A T snp 292.77 0/1 99 28 16 12 0.43 intronic rs28617328 FECH AR NM_000140 exon4 c.4133-93A>T 0.135982 0.0952 Uncertain 18_55226383_G->C 18 55226383 55226383 G C snp 2054.77 0/1 99 218 123 95 0.44 exonic rs536765 FECH AR synonymous SNV NM_000140 exon7 c.C798G p.P266P 0.749601 0.6081 0.763648 0.6973 0.6411 Uncertain 18_55226552_T->C 18 55226552 55226552 T C snp 148.77 0/1 99 16 9 7 0.44 intronic rs76807808 FECH AR NM_000140 exon5 c.8532+77T>C 0.0219649 0.0923 Uncertain 18_55240455_T->C 18 55240455 55240455 T C snp 2996.77 1/1 99 107 0 107 1.0 intronic rs577152 FECH AR NM_000140 exon9 c.22534-22T>C 0.982428 0.999 0.985930 0.9951 1 Uncertain 18_55253710_G->A 18 55253710 55253710 G A snp 1750.77 1/1 99 59 0 59 1.0 intronic rs317815 FECH AR NM_000140 exon11 c.35842-75G>A 0.792931 0.9871 Uncertain 18_55272865_A->G 18 55272865 55272865 A G snp 141.03 1/1 12 6 1 5 0.83 intronic rs317829 NARS AU NM_004539 exon4 c.4205-223A>G Uncertain 18_55287739_A->C 18 55287739 55287739 A C snp 1663.77 1/1 99 59 0 59 1.0 intronic rs388644 NARS AU NM_004539 exon13 c.18917-61A>C 0.813898 0.6706 Uncertain 18_55288007_G->A 18 55288007 55288007 G A snp 655.77 1/1 48 21 0 21 1.0 intronic rs389031 NARS AU NM_004539 exon13 c.19000+124G>A 0.537939 0.6528 Uncertain 18_55288790_C->G 18 55288790 55288790 C G snp 56.74 1/1 6 2 0 2 1.0 intronic rs446777 NARS AU NM_004539 exon14 c.20056-149C>G 0.955072 1 Uncertain 18_55288879_A->G 18 55288879 55288879 A G snp 4024.77 1/1 99 138 0 138 1.0 intronic rs368935 NARS AU NM_004539 exon14 c.20056-60A>G 0.982628 1 0.982698 Uncertain 18_55317676_C->T 18 55317676 55317676 C T snp 4950.77 1/1 99 190 0 190 1.0 exonic rs222581 ATP8B1 AR,AD nonsynonymous SNV NM_005603 exon27 c.G3454A p.A1152T 0.9998 1 0.998770 0.9997 1 1 T 0.000 P -0.960 T 0.0 T 0.0 T Pathogenic 18_55317904_G->A 18 55317904 55317904 G A snp 149.77 0/1 99 9 4 5 0.56 intronic rs167603 ATP8B1 AR,AD NM_005603 exon2 c.2010+175G>A 0.339257 0.3839 Uncertain 18_55335412_A->G 18 55335412 55335412 A G snp 2427.77 1/1 99 80 0 80 1.0 UTR3 rs317845 LOC100505549 AU 0.391174 0.6538 0.3317 0.6211 Uncertain 18_55335495_A->G 18 55335495 55335495 A G snp 2529.77 1/1 99 72 0 72 1.0 UTR3 rs317844 LOC100505549 AU 0.993011 1 Uncertain 18_55338656_G->A 18 55338656 55338656 G A snp 4458.77 1/1 99 136 0 136 1.0 intronic rs317838 ATP8B1 AR,AD NM_005603 exon12 c.22980-43G>A 0.476438 0.6627 0.373866 0.4226 0.6492 Uncertain 18_55352436_G->A 18 55352436 55352436 G A snp 3551.77 1/1 99 119 0 119 1.0 intronic rs319459 ATP8B1 AR,AD NM_005603 exon15 c.36628+89G>A 0.979233 0.9484 Uncertain 18_55352471_TTA->- 18 55352471 55352473 TTA - indel 2957.73 1/1 99 62 0 62 1.0 intronic rs10594129 ATP8B1 AR,AD NM_005603 exon15 c.36628+124_36628+126delTTA 0.720847 0.7778 Uncertain 18_55355822_G->A 18 55355822 55355822 G A snp 500.77 0/1 99 36 16 20 0.56 intronic rs17759405 ATP8B1 AR,AD NM_005603 exon16 c.40020+83G>A 0.0952476 0.2688 Uncertain 18_55358917_G->A 18 55358917 55358917 G A snp 141.03 1/1 12 4 0 4 1.0 intronic rs317809 ATP8B1 AR,AD NM_005603 exon17 c.43319-121G>A 0.431709 0.6667 Uncertain 18_55362532_T->G 18 55362532 55362532 T G snp 1806.77 1/1 99 67 0 67 1.0 exonic rs319443 ATP8B1 AR,AD synonymous SNV NM_005603 exon10 c.A811C p.R271R 0.992612 1 0.989695 0.9972 0.9998 Uncertain 18_55362816_G->A 18 55362816 55362816 G A snp 227.84 1/1 18 8 0 8 1.0 intronic rs319442 ATP8B1 AR,AD NM_005603 exon20 c.47045+52G>A 0.992612 1 0.988577 0.9971 0.9999 Uncertain 18_55364830_G->A 18 55364830 55364830 G A snp 524.77 0/1 99 41 21 20 0.49 intronic rs319439 ATP8B1 AR,AD NM_005603 exon21 c.49130-19G>A 0.442093 0.6706 0.411810 0.4763 0.6836 Uncertain 18_55364852_A->G 18 55364852 55364852 A G snp 2045.77 1/1 99 66 0 66 1.0 exonic rs319438 ATP8B1 AR,AD synonymous SNV NM_005603 exon8 c.T696C p.D232D 0.994609 1 0.993080 0.9980 0.9998 Uncertain 18_55397512_T->G 18 55397512 55397512 T G snp 869.77 1/1 63 28 0 28 1.0 intronic rs319432 ATP8B1 AR,AD NM_005603 exon27 c.83139-1346T>G 0.983626 1 Uncertain 18_55397625_ATA->- 18 55397625 55397627 ATA - indel 9781.73 1/1 99 169 0 169 1.0 intronic rs33926894 ATP8B1 AR,AD NM_005603 exon27 c.83139-1233_83139-1231delATA 0.983626 1 Uncertain 18_55397674_G->C 18 55397674 55397674 G C snp 5195.77 1/1 99 196 0 196 1.0 intronic rs319433 ATP8B1 AR,AD NM_005603 exon27 c.83139-1184G>C 0.983626 1 Uncertain 18_55397871_T->C 18 55397871 55397871 T C snp 4619.77 1/1 99 178 0 178 1.0 intronic rs319434 ATP8B1 AR,AD NM_005603 exon27 c.83139-987T>C 0.983626 1 Uncertain 18_55398606_T->C 18 55398606 55398606 T C snp 117.03 1/1 12 4 0 4 1.0 intronic rs12606420 ATP8B1 AR,AD NM_005603 exon27 c.83139-252T>C 0.983626 1 Uncertain 18_55398756_T->C 18 55398756 55398756 T C snp 2593.77 1/1 99 95 0 95 1.0 intronic rs651867 ATP8B1 AR,AD NM_005603 exon27 c.83139-102T>C 0.983626 1 Uncertain 18_55832896_C->T 18 55832896 55832896 C T snp 107.77 0/1 99 9 5 4 0.44 intronic rs564442 NEDD4L AU NM_015277 exon2 c.121127-123C>T 0.463259 0.3532 Uncertain 18_55862847_G->A 18 55862847 55862847 G A snp 2232.77 0/1 99 158 66 92 0.58 intronic rs1008899 NEDD4L AU NM_015277 exon2 c.121201+29754G>A 0.270367 0.501 0.214684 0.3166 0.4873 Uncertain 18_55863159_A->G 18 55863159 55863159 A G snp 89.77 0/1 99 11 6 5 0.45 intronic rs4941364 NEDD4L AU NM_015277 exon2 c.121201+30066A>G 0.432308 0.5099 Uncertain 18_55983330_T->C 18 55983330 55983330 T C snp 430.77 0/1 99 34 18 16 0.47 intronic rs2288774 NEDD4L AU NM_015277 exon6 c.271372+66T>C 0.492612 0.3591 0.539203 Uncertain 18_56008148_A->G 18 56008148 56008148 A G snp 473.77 1/1 36 12 0 12 1.0 intronic rs4149609 NEDD4L AU NM_015277 exon13 c.296377-121A>G 0.533147 0.6657 Uncertain 18_56024397_T->- 18 56024397 56024397 T - indel 355.73 0/1 73 38 10 28 0.74 intronic rs745959415 NEDD4L AU NM_015277 exon18 c.312533-28delT 0.2738 0.2843 Uncertain 18_56037488_T->C 18 56037488 56037488 T C snp 141.77 0/1 94 8 3 5 0.63 intronic rs2075404 NEDD4L AU NM_015277 exon22 c.325736-140T>C 0.176917 0.1062 Uncertain 18_56040649_T->C 18 56040649 56040649 T C snp 2603.77 1/1 99 82 0 82 1.0 intronic rs1943994 NEDD4L AU NM_015277 exon23 c.328609+148T>C 0.976238 0.998 Uncertain 18_56118493_C->T 18 56118493 56118493 C T snp 644.77 1/1 48 21 0 21 1.0 upstream;downstream rs17669 MIR3591;MIR122 UN 0.702476 0.8323 Uncertain 18_56149048_A->G 18 56149048 56149048 A G snp 1132.77 0/1 99 69 27 42 0.61 UTR3 rs3744867 ALPK2 AU 0.36222 0.2143 0.419960 0.3975 0.2209 Uncertain 18_56149099_T->C 18 56149099 56149099 T C snp 4659.77 1/1 99 165 0 165 1.0 exonic rs7240666 ALPK2 AU nonsynonymous SNV NM_052947 exon13 c.A6469G p.I2157V 0.921526 1 0.832462 0.8683 0.9998 1 T 0.0 P -0.924 T 0.0 T 0.0 T Pathogenic 18_56182174_T->C 18 56182174 56182174 T C snp 1354.77 1/1 99 38 0 38 1.0 intronic rs7505023 ALPK2 AU NM_052947 exon4 c.33170-50T>C 0.922724 1 0.924343 0.9783 1 Uncertain 18_56182489_G->T 18 56182489 56182489 G T snp 1069.77 1/1 78 31 0 31 1.0 intronic rs4310952 ALPK2 AU NM_052947 exon4 c.33259+176G>T 0.185903 0.2371 Uncertain 18_56182507_C->G 18 56182507 56182507 C G snp 565.77 1/1 42 16 0 16 1.0 intronic rs4940399 ALPK2 AU NM_052947 exon4 c.33259+194C>G 0.78774 0.9772 Uncertain 18_56191351_C->T 18 56191351 56191351 C T snp 218.84 1/1 18 6 0 6 1.0 intronic rs7228617 ALPK2 AU NM_052947 exon7 c.42240+57C>T 0.932708 1 Uncertain 18_56196492_G->A 18 56196492 56196492 G A snp 1001.77 0/1 99 61 22 39 0.64 intronic rs10451415 ALPK2 AU NM_052947 exon8 c.47416+22G>A 0.182907 0.1915 0.131170 0.1278 0.2066 Uncertain 18_56201944_A->C 18 56201944 56201944 A C snp 116.77 0/1 99 8 4 4 0.5 intronic rs17065123 ALPK2 AU NM_052947 exon9 c.53011-121A>C 0.0571086 0.0268 Uncertain 18_56202059_A->G 18 56202059 56202059 A G snp 5393.77 1/1 99 201 1 200 1.0 intronic rs10469211 ALPK2 AU NM_052947 exon9 c.53011-6A>G 0.99401 1 0.996002 0.9989 1 Uncertain 18_56202231_T->C 18 56202231 56202231 T C snp 3115.77 0/1 99 242 118 124 0.51 exonic rs17065127 ALPK2 AU nonsynonymous SNV NM_052947 exon5 c.A5188G p.K1730E 0.057508 0.0268 0.049823 0.0300 0.0278 0.02 T 0.769 D -0.847 T 0.998 D 0.978 D Pathogenic 18_56202418_T->C 18 56202418 56202418 T C snp 6063.77 1/1 99 219 0 219 1.0 exonic rs10469212 ALPK2 AU synonymous SNV NM_052947 exon5 c.A5001G p.K1667K 0.930511 1 0.931262 0.9777 1 Uncertain 18_56202982_A->T 18 56202982 56202982 A T snp 2493.77 0/1 99 189 87 102 0.54 exonic rs3826594 ALPK2 AU synonymous SNV NM_052947 exon5 c.T4437A p.A1479A 0.672923 0.7966 0.683684 0.7467 0.7840 Uncertain 18_56203411_G->C 18 56203411 56203411 G C snp 1411.77 0/1 99 133 74 59 0.44 exonic rs3809980 ALPK2 AU synonymous SNV NM_052947 exon5 c.C4008G p.P1336P 0.671526 0.7966 0.683223 0.7461 0.7835 Uncertain 18_56203447_A->G 18 56203447 56203447 A G snp 1252.77 0/1 99 130 73 57 0.44 exonic rs3809979 ALPK2 AU synonymous SNV NM_052947 exon5 c.T3972C p.H1324H 0.671725 0.7966 0.683223 0.7463 0.7837 Uncertain 18_56203837_G->A 18 56203837 56203837 G A snp 1997.77 0/1 99 172 85 87 0.51 exonic rs17065139 ALPK2 AU synonymous SNV NM_052947 exon5 c.C3582T p.S1194S 0.0553115 0.0268 0.048747 0.0289 0.0278 Uncertain 18_56203891_G->T 18 56203891 56203891 G T snp 1654.77 0/1 99 149 78 71 0.48 exonic rs3809978 ALPK2 AU synonymous SNV NM_052947 exon5 c.C3528A p.P1176P 0.671725 0.7966 0.682916 0.7458 0.7827 Uncertain 18_56203898_T->G 18 56203898 56203898 T G snp 1650.77 0/1 99 144 72 72 0.5 exonic rs3809977 ALPK2 AU nonsynonymous SNV NM_052947 exon5 c.A3521C p.H1174P 0.671725 0.7966 0.682531 0.7457 0.7826 0.14 T 0.0 P -0.891 T 0.994 D 0.906 D Pathogenic 18_56204250_A->C 18 56204250 56204250 A C snp 2931.77 0/1 99 241 115 126 0.52 exonic rs3809976 ALPK2 AU nonsynonymous SNV NM_052947 exon5 c.T3169G p.L1057V 0.672125 0.7976 0.683223 0.7463 0.7845 1 T 0.0 P -0.844 T 0.782 T 0.26 P Pathogenic 18_56204644_T->G 18 56204644 56204644 T G snp 1856.77 0/1 99 132 70 62 0.47 exonic rs12963422 ALPK2 AU synonymous SNV NM_052947 exon5 c.A2775C p.V925V 0.33746 0.5734 0.287406 0.3815 0.5753 Uncertain 18_56204747_G->A 18 56204747 56204747 G A snp 4904.77 1/1 99 166 0 166 1.0 exonic rs3826593 ALPK2 AU nonsynonymous SNV NM_052947 exon5 c.C2672T p.T891I 0.798522 0.8363 0.843764 0.8801 0.8226 0.26 T 0.0 P -0.976 T 0.0 T 0.0 T Pathogenic 18_56204768_G->A 18 56204768 56204768 G A snp 2527.77 0/1 99 190 85 105 0.55 exonic rs3809974 ALPK2 AU nonsynonymous SNV NM_052947 exon5 c.C2651T p.S884L 0.0549121 0.0268 0.048593 0.0288 0.0278 0.18 T 1 N -1.078 T 0.089 T 0.057 T Pathogenic 18_56245965_-->ACACACAC 18 56245965 56245965 - ACACACAC indel 822.86 1/1 2 16 1 15 0.94 intronic ALPK2 AU NM_052947 exon10 c.96991-80insACACACAC Uncertain 18_56246442_T->C 18 56246442 56246442 T C snp 2429.77 0/1 99 232 123 109 0.47 exonic rs12606191 ALPK2 AU synonymous SNV NM_052947 exon4 c.A1566G p.G522G 0.373403 0.6022 0.295863 0.3710 0.6083 Uncertain 18_56247180_T->C 18 56247180 56247180 T C snp 2517.77 0/1 99 175 81 94 0.54 exonic rs9958735 ALPK2 AU synonymous SNV NM_052947 exon4 c.A828G p.L276L 0.510184 0.6022 0.479317 0.5073 0.6077 Uncertain 18_56247567_A->G 18 56247567 56247567 A G snp 2586.77 0/1 99 250 146 104 0.42 exonic rs9956630 ALPK2 AU synonymous SNV NM_052947 exon4 c.T441C p.Y147Y 0.482827 0.6022 0.450518 0.5003 0.6072 Uncertain 18_56247600_C->A 18 56247600 56247600 C A snp 2868.77 0/1 99 249 133 116 0.47 exonic rs9944810 ALPK2 AU nonsynonymous SNV NM_052947 exon4 c.G408T p.R136S 0.482827 0.6022 0.449187 0.5001 0.6059 0.5 T 0.0 P -0.943 T 0.0 T 0.0 T Pathogenic 18_56274514_A->G 18 56274514 56274514 A G snp 4781.77 1/1 99 173 0 173 1.0 intronic rs6566986 ALPK2 AU NM_052947 exon11 c.125499-39A>G 0.936901 1 0.838107 0.8619 0.9998 Uncertain 18_56279025_T->G 18 56279025 56279025 T G snp 857.77 1/1 63 30 0 30 1.0 exonic rs6566987 ALPK2 AU nonsynonymous SNV NM_052947 exon2 c.A5C p.K2T 0.940695 1 0.841931 0.8647 0.9998 1 T 0.0 P -0.956 T 0.0 T 0.0 T Pathogenic 18_56390553_A->G 18 56390553 56390553 A G snp 54.74 1/1 6 2 0 2 1.0 intronic rs4940744 MALT1 AR NM_173844 exon9 c.51608+70A>G 0.951278 1 Uncertain 18_56412784_C->T 18 56412784 56412784 C T snp 216.77 0/1 99 14 7 7 0.5 intronic rs58993112 MALT1 AR NM_173844 exon15 c.74022-113C>T 0.169728 0.3135 Uncertain 18_56587802_A->C 18 56587802 56587802 A C snp 2234.77 0/1 99 164 76 88 0.54 exonic rs3737506 ZNF532 AU nonsynonymous SNV NM_018181 exon4 c.A2283C p.E761D 0.152756 0.3968 0.023297 0.0998 0.4026 0 D 0.992 P -0.974 T 0.985 D 0.785 D Pathogenic 18_56649060_C->T 18 56649060 56649060 C T snp 40.77 0/1 33 3 1 2 0.67 intronic rs76084836 ZNF532 AU NM_018181 exon10 c.63330+211C>T 0.152955 0.4117 Uncertain 18_56703194_A->C 18 56703194 56703194 A C snp 2234.77 1/1 99 79 0 79 1.0 ncRNA_intronic rs9961940 OACYLP AU 0.852236 0.7748 Uncertain 18_56711225_A->C 18 56711225 56711225 A C snp 894.77 1/1 69 25 0 25 1.0 ncRNA_intronic rs11152115 OACYLP AU 0.826877 0.7649 Uncertain 18_56711284_C->T 18 56711284 56711284 C T snp 2359.77 1/1 99 88 0 88 1.0 ncRNA_intronic rs11152116 OACYLP AU 0.827476 0.7639 0.8286 0.7652 Uncertain 18_56719082_T->G 18 56719082 56719082 T G snp 198.77 0/1 60 8 2 6 0.75 ncRNA_intronic rs9957764 OACYLP AU 0.422324 0.3542 Uncertain 18_56719092_G->C 18 56719092 56719092 G C snp 157.77 0/1 57 7 2 5 0.71 ncRNA_intronic rs9965858 OACYLP AU 0.283147 0.2956 Uncertain 18_56807308_C->G 18 56807308 56807308 C G snp 2527.77 1/1 99 97 0 97 1.0 intronic rs3744890 SEC11C AU NM_033280 exon1 c.87+41C>G 0.585264 0.8661 0.458230 0.5075 0.8448 Uncertain 18_56807339_T->G 18 56807339 56807339 T G snp 1933.77 1/1 99 75 0 75 1.0 intronic rs3744891 SEC11C AU NM_033280 exon1 c.87+72T>G 0.584864 0.8661 Uncertain 18_56823071_T->A 18 56823071 56823071 T A snp 2201.77 1/1 99 75 0 75 1.0 intronic rs4940848 SEC11C AU NM_033280 exon4 c.15859+32T>A 0.218251 0.626 0.098109 0.1675 0.5835 Uncertain 18_56887507_C->A 18 56887507 56887507 C A snp 496.77 0/1 99 43 19 24 0.56 exonic rs1062557 GRP AU nonsynonymous SNV NM_001012512 exon1 c.C10A p.R4S 0.708866 0.744 0.814780 0.6823 0.8246 0.77 T 0.000 P -0.987 T 0.067 T 0.016 T Pathogenic 18_56963742_C->T 18 56963742 56963742 C T snp 114.77 0/1 66 7 2 5 0.71 UTR3 rs4940456 CPLX4 AU 0.45627 0.5317 Uncertain 18_57000303_G->A 18 57000303 57000303 G A snp 603.77 0/1 99 65 37 28 0.43 intronic rs2298712 LMAN1 AR NM_005570 exon3 c.1998-19G>A 0.35603 0.2778 0.349531 0.3163 0.2714 Uncertain 18_57026573_-->C 18 57026573 57026573 - C indel 448.73 0/1 99 33 11 22 0.67 upstream rs140141851 LMAN1 AR Uncertain 18_57115133_T->C 18 57115133 57115133 T C snp 261.8 1/1 21 7 0 7 1.0 intronic rs3809990 CCBE1 AR NM_133459 exon5 c.12075-81T>C 0.694289 0.7341 Uncertain 18_57115532_G->A 18 57115532 57115532 G A snp 37.77 0/1 60 4 2 2 0.5 intronic rs75346177 CCBE1 AR NM_133459 exon5 c.12196+197G>A 0.109824 0.0357 Uncertain 18_57134152_A->G 18 57134152 57134152 A G snp 818.77 1/1 60 30 0 30 1.0 intronic rs4940876 CCBE1 AR NM_133459 exon7 c.30984+29A>G 0.95627 1 0.954098 0.9873 1 Uncertain 18_57136869_A->G 18 57136869 57136869 A G snp 586.77 0/1 99 56 32 24 0.43 intronic rs632899 CCBE1 AR NM_133459 exon8 c.33700+30A>G 0.432308 0.4266 0.455021 0.4530 0.4232 Uncertain 18_57136902_C->A 18 57136902 57136902 C A snp 394.77 0/1 99 37 21 16 0.43 intronic rs663452 CCBE1 AR NM_133459 exon8 c.33700+63C>A 0.413738 0.4266 Uncertain 18_57147351_G->A 18 57147351 57147351 G A snp 532.77 1/1 39 21 0 21 1.0 intronic rs1663548 CCBE1 AR NM_133459 exon9 c.44278-66G>A 0.721246 0.8204 Uncertain 18_57147390_C->G 18 57147390 57147390 C G snp 667.77 1/1 48 25 0 25 1.0 intronic rs1790508 CCBE1 AR NM_133459 exon9 c.44278-27C>G 0.711661 0.8204 0.623399 0.6399 0.8380 Uncertain 18_57147679_C->A 18 57147679 57147679 C A snp 113.77 0/1 99 9 5 4 0.44 intronic rs12457023 CCBE1 AR NM_133459 exon9 c.44331+209C>A 0.160343 0.3442 Uncertain 18_57364063_G->A 18 57364063 57364063 G A snp 542.77 0/1 99 23 4 19 0.83 intronic CCBE1 AR NM_133459 exon10 c.260802+122G>A Uncertain 18_57364089_G->C 18 57364089 57364089 G C snp 470.77 1/1 36 13 0 13 1.0 intronic rs3114280 CCBE1 AR NM_133459 exon10 c.260802+148G>C 0.317492 0.2956 Uncertain 18_57567638_G->C 18 57567638 57567638 G C snp 969.77 0/1 99 103 61 42 0.41 intronic rs11663656 PMAIP1 AU NM_021127 exon1 c.58+171G>C 0.234625 0.3889 0.2343 0.4110 Uncertain 18_57570059_A->G 18 57570059 57570059 A G snp 1037.77 0/1 99 96 56 40 0.42 UTR3 rs111493733 PMAIP1 AU 0.00239617 0.006 0.0026 0.0170 Uncertain 18_57637560_-->CA 18 57637560 57637560 - CA indel 2791.73 0/1 99 146 81 65 0.45 intergenic rs112843209 PMAIP1 AU 0.152955 0.1379 Uncertain 18_57637765_C->T 18 57637765 57637765 C T snp 2754.77 0/1 99 185 91 94 0.51 intergenic rs114758346 PMAIP1 AU 0.0405351 0.0625 Uncertain 18_57638330_G->A 18 57638330 57638330 G A snp 852.77 0/1 99 86 48 38 0.44 intergenic rs10871774 PMAIP1 AU 0.6873 0.8601 Uncertain 18_58290330_A->T 18 58290330 58290330 A T snp 2018.77 1/1 99 74 0 74 1.0 intergenic rs1560400 MC4R AR,AD,AO 0.464058 0.5813 Uncertain 18_58291479_T->C 18 58291479 58291479 T C snp 6785.77 1/1 99 219 0 219 1.0 intergenic rs9947661 MC4R AR,AD,AO 0.629593 0.6508 Uncertain 18_58291654_C->T 18 58291654 58291654 C T snp 2954.77 0/1 99 223 98 125 0.56 intergenic rs754820660 MC4R AR,AD,AO Uncertain 18_58310604_C->T 18 58310604 58310604 C T snp 224.84 1/1 18 6 0 6 1.0 intergenic rs11659206 MC4R AR,AD,AO 0.45028 0.5585 Uncertain 18_59157764_T->C 18 59157764 59157764 T C snp 5423.77 1/1 99 206 0 206 1.0 upstream rs680530 CDH20 AU 0.992013 1 0.990158 0.9971 1 Uncertain 18_59158065_T->G 18 59158065 59158065 T G snp 913.77 1/1 69 26 0 26 1.0 intronic rs681902 CDH20 AU NM_031891 exon1 c.246+33T>G 0.992013 1 0.990235 0.9973 1 Uncertain 18_59170304_C->G 18 59170304 59170304 C G snp 2234.77 1/1 99 85 0 85 1.0 exonic rs595093 CDH20 AU synonymous SNV NM_031891 exon4 c.C780G p.V260V 0.995807 1 0.995387 0.9987 1 Uncertain 18_59174817_C->A 18 59174817 59174817 C A snp 549.77 1/1 42 18 0 18 1.0 intronic rs1547956 CDH20 AU NM_031891 exon5 c.17007+24C>A 0.71865 0.751 0.730970 0.7786 0.7988 Uncertain 18_59206197_-->T 18 59206197 59206197 - T indel 1742.73 1/1 99 59 0 59 1.0 intronic rs398120544 CDH20 AU NM_031891 exon8 c.48470-59insT 0.814297 0.8879 Uncertain 18_59217504_T->A 18 59217504 59217504 T A snp 1465.77 1/1 99 49 0 49 1.0 intronic rs10439060 CDH20 AU NM_031891 exon10 c.59676+42T>A 0.270168 0.5 0.172025 0.2320 0.5337 Uncertain 18_59217513_A->G 18 59217513 59217513 A G snp 597.77 0/1 99 40 16 24 0.6 intronic rs118049869 CDH20 AU NM_031891 exon10 c.59676+51A>G 0.0219649 0.0655 0.000939 0.0145 0.0894 Uncertain 18_59739962_-->A 18 59739962 59739962 - A indel 46.73 0/1 84 24 14 10 0.42 splicing rs112622481 PIGN AR NM_012327 exon2 c.26870+4insA 0.3125 0.494 0.2424 0.4308 Pathogenic 18_59751715_T->C 18 59751715 59751715 T C snp 235.77 0/1 99 21 11 10 0.48 intronic rs1560502 PIGN AR NM_012327 exon5 c.38675-48T>C 0.363019 0.5853 0.246244 0.3402 0.5848 Uncertain 18_59768117_G->A 18 59768117 59768117 G A snp 48.74 1/1 6 2 0 2 1.0 intronic rs684944 PIGN AR NM_012327 exon10 c.55219-190G>A 0.984425 0.998 Uncertain 18_59777011_T->C 18 59777011 59777011 T C snp 1347.77 0/1 99 92 40 52 0.57 intronic rs2163518 PIGN AR NM_012327 exon15 c.63978-55T>C 0.419728 0.6448 Uncertain 18_59805532_T->C 18 59805532 59805532 T C snp 1442.77 1/1 99 52 0 52 1.0 splicing rs9959632 PIGN AR NM_012327 exon18 c.92443+1T>C 1 1 1 1 1.0 P Pathogenic 18_59806190_C->T 18 59806190 59806190 C T snp 83.77 0/1 30 5 2 3 0.6 intronic rs2298779 PIGN AR NM_012327 exon19 c.93127-25C>T 0.441494 0.628 0.337035 0.4784 0.6562 Uncertain 18_59807635_T->C 18 59807635 59807635 T C snp 79.77 0/1 99 13 8 5 0.38 intronic rs12608212 PIGN AR NM_012327 exon20 c.94564-17T>C 0.392772 0.5655 0.289056 0.4566 0.6309 Uncertain 18_59814268_G->A 18 59814268 59814268 G A snp 1257.77 0/1 99 92 42 50 0.54 exonic rs9320000 PIGN AR synonymous SNV NM_176787 exon9 c.C741T p.H247H 0.590655 0.6974 0.569534 0.6135 0.6685 Uncertain 18_59814324_G->C 18 59814324 59814324 G C snp 629.77 0/1 99 47 22 25 0.53 exonic rs9320001 PIGN AR nonsynonymous SNV NM_176787 exon9 c.C685G p.H229D 0.847244 0.9345 0.790991 0.7845 0.9052 0.000 P -0.980 T 0.0 T 0.0 T Pathogenic 18_59815284_G->C 18 59815284 59815284 G C snp 37.77 0/1 66 7 5 2 0.29 intronic rs7243994 PIGN AR NM_012327 exon24 c.102358-162G>C 0.820288 0.9345 Uncertain 18_59821949_G->A 18 59821949 59821949 G A snp 110.77 0/1 99 10 6 4 0.4 intronic rs11659731 PIGN AR NM_012327 exon25 c.108796+65G>A 0.516573 0.6438 Uncertain 18_59824209_A->T 18 59824209 59824209 A T snp 155.77 0/1 99 11 5 6 0.55 intronic rs1021952 PIGN AR NM_012327 exon26 c.111273-152A>T 0.565296 0.7996 Uncertain 18_59824490_A->T 18 59824490 59824490 A T snp 1228.77 0/1 99 91 48 43 0.47 intronic rs1021953 PIGN AR NM_012327 exon26 c.111372+30A>T 0.565695 0.7996 0.522139 0.6317 0.7781 Uncertain 18_59947118_G->A 18 59947118 59947118 G A snp 1575.77 0/1 99 160 89 71 0.44 intronic rs2980981 KIAA1468 AU NM_020854 exon23 c.92854-474G>A 0.705471 0.9147 0.6859 0.8673 Uncertain 18_59949699_T->C 18 59949699 59949699 T C snp 2433.77 0/1 99 223 121 102 0.46 intronic rs117792984 KIAA1468 AU NM_020854 exon25 c.94939+22T>C 0.00419329 0.0198 0.000154 0.0021 0.0274 Uncertain 18_59954811_G->A 18 59954811 59954811 G A snp 681.77 0/1 99 38 14 24 0.63 intronic rs12969851 KIAA1468 AU NM_020854 exon26 c.99962+111G>A 0.0455272 0.0754 Uncertain 18_59958678_G->A 18 59958678 59958678 G A snp 388.77 0/1 99 36 22 14 0.39 intronic rs2980983 KIAA1468 AU NM_020854 exon27 c.104037-97G>A 0.357628 0.5923 Uncertain 18_60027078_G->A 18 60027078 60027078 G A snp 1339.77 0/1 99 95 46 49 0.52 intronic rs17069876 TNFRSF11A AU,AD NM_003839 exon6 c.34602-109G>A 0.0409345 0.1696 Uncertain 18_60028858_C->T 18 60028858 60028858 C T snp 1162.77 0/1 99 114 68 46 0.4 intronic rs17069895 TNFRSF11A AU,AD NM_003839 exon7 c.36327-54C>T 0.0399361 0.1696 Uncertain 18_60036083_A->G 18 60036083 60036083 A G snp 4148.77 1/1 99 139 0 139 1.0 exonic rs8092336 TNFRSF11A AU,AD synonymous SNV NM_003839 exon9 c.A933G p.T311T 0.980831 1 0.953483 0.9562 1 Uncertain 18_60191428_G->A 18 60191428 60191428 G A snp 1828.77 0/1 99 175 95 80 0.46 exonic rs7229802 ZCCHC2 AU synonymous SNV NM_017742 exon1 c.G771A p.E257E 0.707668 0.7907 0.744853 0.7288 0.796 Uncertain 18_60212014_TG->- 18 60212014 60212015 TG - indel 1290.73 0/1 99 68 34 34 0.5 intronic rs143702074 ZCCHC2 AU NM_017742 exon4 c.21377-20_21377-19delTG 0.235224 0.2331 0.188742 0.2351 0.2650 Uncertain 18_60225865_G->C 18 60225865 60225865 G C snp 176.9 1/1 15 5 0 5 1.0 intronic rs72941651 ZCCHC2 AU NM_017742 exon7 c.35262-54G>C 0.30012 0.2351 0.229512 Uncertain 18_60232405_C->T 18 60232405 60232405 C T snp 963.77 1/1 69 33 0 33 1.0 intronic rs4940561 ZCCHC2 AU NM_017742 exon11 c.41672+76C>T 0.992412 1 Uncertain 18_60237388_A->G 18 60237388 60237388 A G snp 3736.77 1/1 99 139 0 139 1.0 exonic rs8096750 ZCCHC2 AU synonymous SNV NM_017742 exon12 c.A1899G p.S633S 0.870407 0.997 0.742852 0.7582 0.9980 Uncertain 18_60241732_C->T 18 60241732 60241732 C T snp 2788.77 0/1 99 210 104 106 0.5 exonic rs3744926 ZCCHC2 AU synonymous SNV NM_017742 exon13 c.C2418T p.P806P 0.482228 0.7817 0.356115 0.4447 0.7740 Uncertain 18_60243876_G->A 18 60243876 60243876 G A snp 1868.77 0/1 99 163 79 84 0.52 UTR3 rs11557713 ZCCHC2 AU 0.347045 0.7411 0.222076 Uncertain 18_60491365_A->- 18 60491365 60491365 A - indel 139.73 0/1 99 28 14 14 0.5 intronic rs34639796 PHLPP1 AU NM_194449 exon2 c.114351-5902delA Uncertain 18_60562298_A->T 18 60562298 60562298 A T snp 2264.77 1/1 99 89 0 89 1.0 exonic rs624821 PHLPP1 AU synonymous SNV NM_194449 exon5 c.A2121T p.P707P 0.486222 0.3621 0.587319 0.5547 0.3819 Uncertain 18_60572438_T->- 18 60572438 60572438 T - indel 758.73 1/1 37 33 2 31 0.94 intronic rs3217528 PHLPP1 AU NM_194449 exon8 c.189540-18delT 0.41893 0.3571 0.5439 0.4901 Uncertain 18_60612536_T->G 18 60612536 60612536 T G snp 887.77 0/1 99 89 46 43 0.48 intronic rs525092 PHLPP1 AU NM_194449 exon12 c.229588+32T>G 0.496605 0.6994 0.387375 0.4450 0.6787 Uncertain 18_60630531_T->C 18 60630531 60630531 T C snp 1174.77 0/1 99 93 48 45 0.48 intronic rs547690 PHLPP1 AU NM_194449 exon14 c.247684-69T>C 0.60603 0.6339 Uncertain 18_61022634_T->C 18 61022634 61022634 T C snp 4360.77 1/1 99 136 0 136 1.0 intronic rs1809319 KDSR AU NM_002035 exon7 c.23716-96T>C 0.578275 0.4335 Uncertain 18_61022791_C->T 18 61022791 61022791 C T snp 2178.77 1/1 99 77 0 77 1.0 exonic rs2003149 KDSR AU synonymous SNV NM_002035 exon4 c.G261A p.V87V 0.556909 0.4335 0.601876 0.6270 0.4527 Uncertain 18_61026945_T->C 18 61026945 61026945 T C snp 217.77 0/1 99 31 20 11 0.35 intronic rs61758852 KDSR AU NM_002035 exon8 c.27954-23T>C 0.117612 0.2609 0.003153 0.0591 0.2699 Uncertain 18_61034175_A->G 18 61034175 61034175 A G snp 2983.77 1/1 99 108 0 108 1.0 intronic rs427065 KDSR AU NM_002035 exon10 c.35229-68A>G 0.771765 0.9593 Uncertain 18_61060873_G->A 18 61060873 61060873 G A snp 82.77 0/1 99 9 4 5 0.56 intronic rs898890 VPS4B AU NM_004869 exon2 c.2575+91G>A 0.64377 0.8829 Uncertain 18_61066463_A->G 18 61066463 61066463 A G snp 1305.77 0/1 99 102 46 56 0.55 intronic rs2276317 VPS4B AU NM_004869 exon4 c.8267-11A>G 0.64397 0.8819 0.507151 0.5679 0.9055 Uncertain 18_61067959_T->C 18 61067959 61067959 T C snp 1239.77 0/1 99 82 31 51 0.62 intronic rs952245 VPS4B AU NM_004869 exon6 c.9729+23T>C 0.533347 0.8413 0.389188 0.5150 0.8666 Uncertain 18_61077757_T->C 18 61077757 61077757 T C snp 80.77 0/1 61 5 2 3 0.6 intronic rs9952252 VPS4B AU NM_004869 exon9 c.19472+78T>C 0.644569 0.8829 Uncertain 18_61154043_T->C 18 61154043 61154043 T C snp 953.77 0/1 99 85 44 41 0.48 intronic rs34587228 SERPINB5 AU NM_002639 exon3 c.2517-135T>C 0.382388 0.3988 Uncertain 18_61156606_G->C 18 61156606 61156606 G C snp 1373.77 0/1 99 111 57 54 0.49 exonic rs12454742 SERPINB5 AU synonymous SNV NM_002639 exon4 c.G333C p.P111P 0.714457 0.621 0.739659 0.6696 0.6062 Uncertain 18_61160035_G->A 18 61160035 61160035 G A snp 197.8 0/1 21 7 1 6 0.86 intronic rs1858143 SERPINB5 AU NM_002639 exon5 c.8524-150G>A 0.738618 0.621 Uncertain 18_61160287_T->C 18 61160287 61160287 T C snp 2723.77 0/1 99 233 115 118 0.51 exonic rs2289519 SERPINB5 AU nonsynonymous SNV NM_002639 exon5 c.T526C p.S176P 0.715455 0.622 0.741350 0.6716 0.6084 0.38 T 0.000 P -0.944 T 0.0 T 0.0 T ID=CM083559;DIS=Decreased apoptosis and increased colony formation in vitro;TAG=FP;PUB=18698492 FP Pathogenic 18_61160385_T->C 18 61160385 61160385 T C snp 1066.77 0/1 99 102 59 43 0.42 intronic rs2289521 SERPINB5 AU NM_002639 exon5 c.8667+57T>C 0.383387 0.3998 0.5216 0.3757 Uncertain 18_61166256_G->A 18 61166256 61166256 G A snp 245.84 0/1 18 9 1 8 0.89 intronic rs71366963 SERPINB5 AU NM_002639 exon6 c.14691-96G>A 0.153355 0.1101 Uncertain 18_61166268_GC->- 18 61166268 61166269 GC - indel 311.73 1/1 33 11 0 11 1.0 intronic rs71821111 SERPINB5 AU NM_002639 exon6 c.14691-84_14691-83delGC Uncertain 18_61170500_T->C 18 61170500 61170500 T C snp 335.78 1/1 27 10 0 10 1.0 intronic rs1455557 SERPINB5 AU NM_002639 exon7 c.18901-62T>C 0.498802 0.5982 Uncertain 18_61170721_T->C 18 61170721 61170721 T C snp 4879.77 1/1 99 163 0 163 1.0 exonic rs1455556 SERPINB5 AU synonymous SNV NM_002639 exon7 c.T894C p.S298S 0.525759 0.5972 0.586883 0.6163 0.5577 Uncertain 18_61170782_A->G 18 61170782 61170782 A G snp 2421.77 0/1 99 178 83 95 0.53 exonic rs1455555 SERPINB5 AU nonsynonymous SNV NM_002639 exon7 c.A955G p.I319V 0.364816 0.4871 0.404967 0.4297 0.4583 1 T 0.998 P -1.015 T 0.0 T 0.002 T Pathogenic 18_61170925_T->C 18 61170925 61170925 T C snp 4402.77 1/1 99 150 0 150 1.0 exonic rs8093128 SERPINB5 AU synonymous SNV NM_002639 exon7 c.T1098C p.I366I 0.999401 1 0.996771 0.9976 1 Uncertain 18_61225801_C->T 18 61225801 61225801 C T snp 1825.77 0/1 99 157 79 78 0.5 intronic rs7244584 SERPINB12 AU NM_080474 exon2 c.2267+142C>T 0.495008 0.4147 Uncertain 18_61226694_G->A 18 61226694 61226694 G A snp 478.77 1/1 36 12 0 12 1.0 intronic rs11152391 SERPINB12 AU NM_080474 exon3 c.3418-116G>A 0.665136 0.6984 Uncertain 18_61226740_G->A 18 61226740 61226740 G A snp 886.77 0/1 99 49 19 30 0.61 intronic rs12103954 SERPINB12 AU NM_080474 exon3 c.3418-70G>A Uncertain 18_61228248_T->C 18 61228248 61228248 T C snp 309.78 1/1 24 10 0 10 1.0 intronic rs9676250 SERPINB12 AU NM_080474 exon4 c.4925-69T>C 0.625799 0.6974 Uncertain 18_61231145_AAAT->- 18 61231145 61231148 AAAT - indel 478.73 0/1 99 24 11 13 0.54 intronic SERPINB12 AU NM_080474 exon5 c.7818-65_7818-62delAAAT Uncertain 18_61231417_A->G 18 61231417 61231417 A G snp 3924.77 1/1 99 129 0 129 1.0 intronic rs9957786 SERPINB12 AU NM_080474 exon5 c.7961+64A>G 0.627196 0.6984 Uncertain 18_61233739_T->C 18 61233739 61233739 T C snp 341.78 1/1 27 10 0 10 1.0 intronic rs2077549 SERPINB12 AU NM_080474 exon7 c.10447-100T>C 0.66274 0.6984 Uncertain 18_61233907_C->T 18 61233907 61233907 C T snp 1814.77 0/1 99 168 88 80 0.48 exonic rs61751994 SERPINB12 AU nonsynonymous SNV NM_080474 exon7 c.C881T p.S294L 0.0794728 0.2827 0.016992 0.0443 0.2875 0.08 T 0.0 P -1.083 T 0.269 T 0.034 T Pathogenic 18_61234004_G->C 18 61234004 61234004 G C snp 2832.77 0/1 99 225 103 122 0.54 exonic rs61751995 SERPINB12 AU synonymous SNV NM_080474 exon7 c.G978C p.T326T 0.0800719 0.2827 0.016992 0.0443 0.2879 Uncertain 18_61256112_A->T 18 61256112 61256112 A T snp 144.77 0/1 99 10 5 5 0.5 intronic rs59160527 SERPINB13 AU NM_012397 exon2 c.165+46A>T 0.10643 0.2798 0.053001 0.1385 0.3756 Uncertain 18_61261515_T->C 18 61261515 61261515 T C snp 4792.77 1/1 99 169 0 169 1.0 intronic rs11152394 SERPINB13 AU NM_012397 exon6 c.5687-73T>C 0.850439 0.875 0.8070 0.8713 Uncertain 18_61261540_T->C 18 61261540 61261540 T C snp 4860.77 1/1 99 168 1 167 0.99 intronic rs11152395 SERPINB13 AU NM_012397 exon6 c.5687-48T>C 0.850639 0.875 0.829310 0.8031 0.8763 Uncertain 18_61261565_C->G 18 61261565 61261565 C G snp 4590.77 1/1 99 151 0 151 1.0 intronic rs11152396 SERPINB13 AU NM_012397 exon6 c.5687-23C>G 0.785743 0.875 0.769568 0.7859 0.8761 Uncertain 18_61264298_G->A 18 61264298 61264298 G A snp 3736.77 1/1 99 146 1 145 0.99 exonic rs1020694 SERPINB13 AU nonsynonymous SNV NM_012397 exon8 c.G877A p.G293S 0.860224 0.875 0.838613 0.8075 0.8769 1 T 0.0 P -0.957 T 0.003 T 0.001 T Pathogenic 18_61264468_C->T 18 61264468 61264468 C T snp 8224.77 1/1 99 250 0 250 1.0 exonic rs1020693 SERPINB13 AU synonymous SNV NM_012397 exon8 c.C1047T p.T349T 0.78754 0.875 0.770567 0.7870 0.8772 Uncertain 18_61271065_G->A 18 61271065 61271065 G A snp 849.77 1/1 63 24 0 24 1.0 intergenic rs7229459 SERPINB13 AU 0.78774 0.875 Uncertain 18_61306690_G->A 18 61306690 61306690 G A snp 442.77 0/1 99 23 8 15 0.65 intronic rs2276203 SERPINB4 AU NM_002974 exon2 c.1622+116G>A 0.391174 0.619 Uncertain 18_61308895_A->G 18 61308895 61308895 A G snp 3615.77 1/1 99 116 0 116 1.0 intronic rs2518061 SERPINB4 AU NM_002974 exon5 c.4041-98A>G 0.995208 1 Uncertain 18_61310585_G->A 18 61310585 61310585 G A snp 1920.77 0/1 99 133 63 70 0.53 intronic SERPINB4 AU NM_002974 exon7 c.5694-61G>A Uncertain 18_61322995_T->C 18 61322995 61322995 T C snp 3136.77 0/1 99 250 124 126 0.5 exonic rs1065205 SERPINB3 AU nonsynonymous SNV NM_006919 exon8 c.A1069G p.T357A 0.192492 0.4405 0.085038 0.1439 0.4360 0.94 T 0.0 P -1.075 T 0.0 T 0.001 T Pathogenic 18_61324033_T->C 18 61324033 61324033 T C snp 65.77 0/1 94 10 7 3 0.3 intronic rs3786333 SERPINB3 AU NM_006919 exon2 c.1174-31T>C 0.399161 0.6171 0.292250 0.3197 0.6061 Uncertain 18_61325905_T->G 18 61325905 61325905 T G snp 441.77 0/1 99 48 26 22 0.46 intronic rs7228687 SERPINB3 AU NM_006919 exon4 c.2974+41T>G 0.317093 0.255 0.400354 0.4432 0.2782 Uncertain 18_61326505_T->A 18 61326505 61326505 T A snp 2694.77 1/1 99 93 0 93 1.0 intronic rs8089032 SERPINB3 AU NM_006919 exon5 c.3742-127T>A 0.966054 0.9861 0.9882 0.9921 Uncertain 18_61326597_A->C 18 61326597 61326597 A C snp 5367.77 1/1 99 189 1 188 0.99 intronic rs8085479 SERPINB3 AU NM_006919 exon5 c.3742-35A>C 0.993011 1 0.9853 0.9959 Uncertain 18_61326602_A->G 18 61326602 61326602 A G snp 5351.77 1/1 99 187 0 187 1.0 intronic rs8085482 SERPINB3 AU NM_006919 exon5 c.3742-30A>G 0.994409 1 0.9858 0.9962 Uncertain 18_61326609_T->G 18 61326609 61326609 T G snp 5481.77 1/1 99 193 0 193 1.0 intronic rs8089201 SERPINB3 AU NM_006919 exon5 c.3742-23T>G 0.993411 0.996 0.9855 0.9934 Uncertain 18_61326628_-->T 18 61326628 61326628 - T indel 8484.73 1/1 99 213 0 213 1.0 splicing rs11370831 SERPINB3 AU NM_006919 exon5 c.3742-4insT 0.994808 1 0.9977 0.9994 Pathogenic 18_61377579_A->C 18 61377579 61377579 A C snp 2590.77 1/1 99 92 0 92 1.0 exonic rs1395268 SERPINB11 AU unknown 0.832867 0.9008 0.818562 0.8364 0.9043 1 T 1.000 P -0.937 T 0.0 T 0.0 T Uncertain 18_61377644_T->G 18 61377644 61377644 T G snp 864.77 1/1 63 25 0 25 1.0 intronic rs1395269 SERPINB11 AU NM_080475 exon3 c.168+49T>G 0.471645 0.6429 0.365463 0.3852 0.6284 Uncertain 18_61378743_G->T 18 61378743 61378743 G T snp 2626.77 1/1 99 95 0 95 1.0 intronic rs1506424 SERPINB11 AU NM_080475 exon4 c.1201+115G>T 0.451278 0.628 Uncertain 18_61379838_T->G 18 61379838 61379838 T G snp 6274.77 1/1 99 224 0 224 1.0 exonic rs4940595 SERPINB11 AU unknown 0.340010 0.3614 0.6099 0.000 P ID=CM074501;DIS=Non-inhibitory variant;TAG=FP;PUB=17562709 FP Uncertain 18_61383160_G->A 18 61383160 61383160 G A snp 211.84 1/1 18 6 0 6 1.0 intronic rs8085655 SERPINB11 AU NM_080475 exon6 c.5841-108G>A 0.470847 0.6429 Uncertain 18_61387312_G->A 18 61387312 61387312 G A snp 1234.77 1/1 87 46 0 46 1.0 exonic rs1506418 SERPINB11 AU unknown 0.451078 0.627 0.340339 0.3615 0.6082 0.08 T 0.215 P -0.950 T 0.998 D 0.83 D Uncertain 18_61387333_T->A 18 61387333 61387333 T A snp 972.77 1/1 69 38 0 38 1.0 exonic rs1506419 SERPINB11 AU unknown 0.450879 0.627 0.340285 0.3615 0.6083 0.01 T 0.942 P -1.059 T 1.0 D 0.999 D Uncertain 18_61387389_G->A 18 61387389 61387389 G A snp 527.77 1/1 39 21 0 21 1.0 exonic rs1506420 SERPINB11 AU unknown 0.451278 0.627 0.337316 0.3647 0.6085 Uncertain 18_61387984_T->C 18 61387984 61387984 T C snp 141.03 1/1 12 4 0 4 1.0 intronic rs7239198 SERPINB11 AU NM_080475 exon8 c.10637-80T>C 0.451078 0.627 Uncertain 18_61388052_T->C 18 61388052 61388052 T C snp 625.77 1/1 45 23 0 23 1.0 intronic rs7239229 SERPINB11 AU NM_080475 exon8 c.10637-12T>C 0.451278 0.627 0.328278 0.3921 0.6290 Uncertain 18_61390305_T->A 18 61390305 61390305 T A snp 2493.77 0/1 99 201 91 110 0.55 exonic rs77251255 SERPINB11 AU unknown 0.00299521 0.0139 0.0017 0.0220 0 D 0.528 D 0.814 D 1.0 D 0.982 D Uncertain 18_61390316_C->A 18 61390316 61390316 C A snp 5132.77 1/1 99 198 1 197 0.99 exonic rs1395265 SERPINB11 AU unknown 0.722444 0.8512 0.699419 0.7257 0.8425 Uncertain 18_61390332_C->T 18 61390332 61390332 C T snp 5233.77 1/1 99 193 1 192 0.99 exonic rs1395266 SERPINB11 AU unknown 0.722444 0.8512 0.701128 0.7209 0.8375 0.1 T 0.0 P -0.976 T 0.0 T 0.0 T Uncertain 18_61390361_T->C 18 61390361 61390361 T C snp 5488.77 1/1 99 203 1 202 1.0 exonic rs1395267 SERPINB11 AU unknown 0.754792 0.8819 0.725565 0.7356 0.8719 0.13 T 0.0 P -0.989 T 0.958 D 0.563 D ID=CM074499;DIS=Non-inhibitory variant;TAG=FP;PUB=17562709 FP Uncertain 18_61390570_T->G 18 61390570 61390570 T G snp 4339.77 1/1 99 159 0 159 1.0 exonic rs953695 SERPINB11 AU unknown 0.704273 0.8522 0.681734 0.7207 0.8486 Uncertain 18_61390649_C->T 18 61390649 61390649 C T snp 2634.77 1/1 99 90 0 90 1.0 UTR3 rs953696 SERPINB11 AU 0.704273 0.8522 0.688721 0.7229 0.8474 Uncertain 18_61391228_T->C 18 61391228 61391228 T C snp 1826.77 1/1 99 75 0 75 1.0 downstream rs2089318 SERPINB11 AU Uncertain 18_61391324_TCT->- 18 61391324 61391326 TCT - indel 1714.73 1/1 99 48 0 48 1.0 downstream rs147160513 SERPINB11 AU ID=COSM438313;OCCURENCE=1(breast) Likely pathogenic 18_61391449_-->TCT 18 61391449 61391449 - TCT indel 588.73 1/1 36 13 0 13 1.0 downstream rs144614464 SERPINB11 AU ID=COSM1480425;OCCURENCE=1(breast) Likely pathogenic 18_61391506_TCT->- 18 61391506 61391508 TCT - indel 3167.73 1/1 99 58 0 58 1.0 downstream rs144622175 SERPINB11 AU Uncertain 18_61391697_A->G 18 61391697 61391697 A G snp 1480.77 1/1 99 55 0 55 1.0 downstream rs12326861 SERPINB11 AU 0.704673 0.8542 Uncertain 18_61393442_T->C 18 61393442 61393442 T C snp 408.77 1/1 33 13 0 13 1.0 intergenic rs9965604 SERPINB11 AU 0.757987 0.8849 Uncertain 18_61393644_T->A 18 61393644 61393644 T A snp 1339.77 1/1 96 49 0 49 1.0 intergenic rs1893563 SERPINB11 AU 0.704673 0.8542 0.7060 0.9010 Uncertain 18_61393834_C->T 18 61393834 61393834 C T snp 56.74 1/1 6 2 0 2 1.0 intergenic rs931850 SERPINB11 AU 0.704673 0.8542 Uncertain 18_61394140_T->C 18 61394140 61394140 T C snp 96.28 1/1 9 3 0 3 1.0 intergenic rs8097905 SERPINB11 AU 0.704872 0.8542 Uncertain 18_61394143_C->G 18 61394143 61394143 C G snp 99.28 1/1 9 3 0 3 1.0 intergenic rs8093673 SERPINB11 AU 0.705471 0.8552 Uncertain 18_61394300_C->T 18 61394300 61394300 C T snp 1775.77 1/1 99 65 1 64 0.98 intergenic rs8097334 SERPINB11 AU 0.698882 0.8542 Uncertain 18_61394403_A->G 18 61394403 61394403 A G snp 2396.77 1/1 99 89 0 89 1.0 intergenic rs8098025 SERPINB11 AU 0.704673 0.8542 Uncertain 18_61394522_A->G 18 61394522 61394522 A G snp 553.77 1/1 42 16 0 16 1.0 intergenic rs6567386 SERPINB11 AU 0.757987 0.8849 Uncertain 18_61463784_G->T 18 61463784 61463784 G T snp 37.77 0/1 66 7 5 2 0.29 intronic rs1701648 SERPINB7 AR NM_003784 exon5 c.14011+167G>T 0.440296 0.4931 Uncertain 18_61465810_A->G 18 61465810 61465810 A G snp 1256.77 1/1 93 43 0 43 1.0 intronic rs1720858 SERPINB7 AR NM_003784 exon6 c.16231-27A>G 0.653155 0.7183 0.590574 0.5836 0.7317 Uncertain 18_61465822_-->T 18 61465822 61465822 - T indel 419.73 0/1 99 53 30 23 0.43 intronic rs113041735 SERPINB7 AR NM_003784 exon6 c.16231-15insT 0.435104 0.4931 0.3419 0.5145 Uncertain 18_61466024_C->T 18 61466024 61466024 C T snp 684.77 0/1 99 74 44 30 0.41 intronic rs1720857 SERPINB7 AR NM_003784 exon6 c.16374+44C>T 0.211462 0.4117 0.109103 0.1126 0.4424 Uncertain 18_61466058_T->C 18 61466058 61466058 T C snp 412.77 0/1 99 36 23 13 0.36 intronic rs1720856 SERPINB7 AR NM_003784 exon6 c.16374+78T>C 0.213658 0.4117 Uncertain 18_61468085_T->A 18 61468085 61468085 T A snp 1506.77 0/1 99 120 54 66 0.55 intronic rs2658459 SERPINB7 AR NM_003784 exon7 c.18493-14T>A 0.211661 0.4117 0.109027 0.1132 0.4428 Uncertain 18_61468306_G->C 18 61468306 61468306 G C snp 1059.77 1/1 78 31 0 31 1.0 intronic rs2689399 SERPINB7 AR NM_003784 exon7 c.18640+60G>C 0.665535 0.7192 Uncertain 18_61471887_G->A 18 61471887 61471887 G A snp 798.77 0/1 99 79 45 34 0.43 UTR3 rs1625353 SERPINB7 AR 0.313898 0.4355 0.204598 0.1638 0.4672 Uncertain 18_61558656_C->G 18 61558656 61558656 C G snp 1151.77 0/1 99 131 69 62 0.47 intronic rs6095 SERPINB2 AU 0.444888 0.499 0.360218 0.3056 0.4621 Uncertain 18_61558878_C->T 18 61558878 61558878 C T snp 393.77 0/1 99 35 22 13 0.37 intronic rs6093 SERPINB2 AU NM_002575 exon2 c.168+32C>T 0.327077 0.499 0.236968 0.2725 0.4566 Uncertain 18_61558882_T->G 18 61558882 61558882 T G snp 383.77 0/1 99 32 20 12 0.38 intronic rs6094 SERPINB2 AU NM_002575 exon2 c.168+36T>G 0.327077 0.499 0.236737 0.2707 0.4536 Uncertain 18_61562371_T->C 18 61562371 61562371 T C snp 251.77 0/1 99 24 14 10 0.42 intronic rs7233370 SERPINB2 AU NM_002575 exon3 c.3819-126T>C 0.326677 0.499 Uncertain 18_61562391_A->C 18 61562391 61562391 A C snp 358.77 0/1 99 34 21 13 0.38 intronic rs7229383 SERPINB2 AU NM_002575 exon3 c.3819-106A>C 0.326677 0.499 Uncertain 18_61562690_C->T 18 61562690 61562690 C T snp 579.77 0/1 99 52 28 24 0.46 intronic rs3942631 SERPINB2 AU NM_002575 exon3 c.3939+73C>T 0.473243 0.499 Uncertain 18_61562789_C->T 18 61562789 61562789 C T snp 54.74 1/1 6 2 0 2 1.0 intronic rs2140453 SERPINB2 AU NM_002575 exon3 c.3939+172C>T 0.327276 0.502 Uncertain 18_61564394_A->G 18 61564394 61564394 A G snp 1439.77 0/1 99 173 106 67 0.39 exonic rs6098 SERPINB2 AU nonsynonymous SNV NM_001143818 exon5 c.A358G p.N120D 0.349042 0.499 0.269414 0.2788 0.4629 0.0 P -0.975 T 0.0 T 0.0 T Pathogenic 18_61564513_A->G 18 61564513 61564513 A G snp 685.77 0/1 99 70 43 27 0.39 intronic rs2278180 SERPINB2 AU NM_002575 exon4 c.5775+60A>G 0.349241 0.499 Uncertain 18_61564532_A->T 18 61564532 61564532 A T snp 492.77 0/1 99 50 30 20 0.4 intronic rs2278179 SERPINB2 AU NM_002575 exon4 c.5775+79A>T 0.349241 0.499 Uncertain 18_61564589_G->A 18 61564589 61564589 G A snp 219.77 0/1 99 15 7 8 0.53 intronic rs2278178 SERPINB2 AU NM_002575 exon4 c.5775+136G>A 0.444489 0.499 Uncertain 18_61564610_C->T 18 61564610 61564610 C T snp 117.77 0/1 66 7 3 4 0.57 intronic rs2278177 SERPINB2 AU NM_002575 exon4 c.5775+157C>T 0.349042 0.499 Uncertain 18_61565208_T->C 18 61565208 61565208 T C snp 46.77 0/1 33 3 1 2 0.67 intronic rs1916659 SERPINB2 AU NM_002575 exon5 c.6400+130T>C 0.348842 0.499 Uncertain 18_61568869_A->T 18 61568869 61568869 A T snp 192.77 0/1 99 13 6 7 0.54 intronic rs1916660 SERPINB2 AU NM_002575 exon6 c.10295-104A>T 0.444289 0.498 Uncertain 18_61569543_T->A 18 61569543 61569543 T A snp 311.77 0/1 99 15 4 11 0.73 intronic rs1863583 SERPINB2 AU NM_002575 exon7 c.10959-94T>A 0.349042 0.499 Uncertain 18_61569820_TTAAGTTTCTGGGGC->- 18 61569820 61569834 TTAAGTTTCTGGGGC - indel 6605.73 0/1 99 110 58 52 0.47 intronic rs200726702 SERPINB2 AU NM_002575 exon7 c.11124+18_11124+32delTTAAGTTTCTGGGGC 0.347843 0.498 0.252837 0.2673 0.4326 Uncertain 18_61569850_TGAGA->- 18 61569850 61569854 TGAGA - indel 2159.73 0/1 99 78 33 45 0.58 intronic rs3217292 SERPINB2 AU NM_002575 exon7 c.11124+48_11124+52delTGAGA 0.381989 0.499 0.278704 0.2697 0.4321 Uncertain 18_61570503_C->G 18 61570503 61570503 C G snp 562.77 0/1 99 75 46 29 0.39 exonic rs6103 SERPINB2 AU nonsynonymous SNV NM_001143818 exon9 c.C1212G p.N404K 0.349441 0.499 0.269183 0.2829 0.4608 0.75 T 0.000 P -0.960 T 0.0 T 0.001 T Pathogenic 18_61570529_C->G 18 61570529 61570529 C G snp 607.77 0/1 99 80 47 33 0.41 exonic rs6104 SERPINB2 AU nonsynonymous SNV NM_001143818 exon9 c.C1238G p.S413C 0.349042 0.499 0.268568 0.2811 0.4602 1 T 1.000 P -1.004 T 0.003 T 0.005 T Pathogenic 18_61575232_A->G 18 61575232 61575232 A G snp 119.77 0/1 99 11 5 6 0.55 intergenic rs1006961 SERPINB2 AU 0.349042 0.499 0.2672 0.4938 1.000 P -0.915 T Uncertain 18_61582867_A->G 18 61582867 61582867 A G snp 1119.77 0/1 99 105 60 45 0.43 exonic rs8097425 SERPINB10 AU nonsynonymous SNV NM_005024 exon1 c.A123G p.I41M 0.472444 0.4623 0.385822 0.3012 0.4274 1 T 0.000 P -0.977 T 0.0 T 0.0 T Pathogenic 18_61582879_C->T 18 61582879 61582879 C T snp 1138.77 0/1 99 104 60 44 0.42 exonic rs35980016 SERPINB10 AU synonymous SNV NM_005024 exon1 c.C135T p.G45G 0.0317492 0.0208 0.022989 0.0103 0.0136 1 D -1.053 T ID=COSM2151311;OCCURENCE=1(central_nervous_system) Likely benign 18_61587053_G->A 18 61587053 61587053 G A snp 784.77 0/1 99 119 79 40 0.34 exonic rs17072146 SERPINB10 AU nonsynonymous SNV NM_005024 exon4 c.G404A p.G135D 0.171326 0.2123 0.107736 0.0709 0.2151 0.48 T 0.002 P -1.063 T 0.235 T 0.146 T Pathogenic 18_61587067_C->T 18 61587067 61587067 C T snp 910.77 0/1 99 132 85 47 0.36 exonic rs9967382 SERPINB10 AU nonsynonymous SNV NM_005024 exon4 c.C418T p.P140S 0.450879 0.4623 0.365503 0.2955 0.4260 0.69 T 0.000 P -0.931 T 0.0 T 0.0 T Pathogenic 18_61587241_G->A 18 61587241 61587241 G A snp 401.77 0/1 99 34 18 16 0.47 intronic rs17072152 SERPINB10 AU NM_005024 exon4 c.4395+102G>A 0.171326 0.2123 Uncertain 18_61597534_C->T 18 61597534 61597534 C T snp 40.77 0/1 69 5 2 3 0.6 intronic rs3786340 SERPINB10 AU NM_005024 exon5 c.14677+113C>T 0.472644 0.4623 Uncertain 18_61600384_C->T 18 61600384 61600384 C T snp 1212.77 0/1 99 135 74 61 0.45 exonic rs963075 SERPINB10 AU nonsynonymous SNV NM_005024 exon6 c.C736T p.R246C 0.472644 0.4623 0.406582 0.3358 0.4268 0.07 T 0.0 P -0.950 T 0.068 T 0.013 T Pathogenic 18_61647069_G->A 18 61647069 61647069 G A snp 2194.77 0/1 99 195 98 97 0.5 exonic rs1944270 SERPINB8 AU nonsynonymous SNV NM_001031848 exon3 c.G203A p.R68Q 0.325879 0.1944 0.379440 0.3009 0.1844 1 T 0.000 P -1.015 T 0.0 T 0.001 T Pathogenic 18_61654297_A->G 18 61654297 61654297 A G snp 2816.77 0/1 99 217 104 113 0.52 exonic rs3169983 SERPINB8 AU nonsynonymous SNV NM_001276490 exon6 c.A364G p.T122A 0.177516 0.1756 0.132708 0.1135 0.1759 0.73 T 0.0 P -1.111 T 0.0 T 0.004 T Pathogenic 18_61654463_A->G 18 61654463 61654463 A G snp 3043.77 1/1 99 92 0 92 1.0 exonic rs3826616 SERPINB8 AU nonsynonymous SNV NM_001276490 exon6 c.A530G p.H177R 0.548522 0.5446 0.527680 0.5834 0.5411 0 D 1.000 P -0.890 T 0.998 D 0.98 D Pathogenic 18_63477318_A->- 18 63477318 63477318 A - indel 303.73 1/1 41 18 0 18 1.0 intronic rs11332924 CDH7 AU NM_004361 exon3 c.47156+84delA 0.732428 0.7847 Uncertain 18_63489378_C->T 18 63489378 63489378 C T snp 4466.77 1/1 99 165 0 165 1.0 exonic rs8097752 CDH7 AU synonymous SNV NM_004361 exon5 c.C687T p.V229V 0.852835 0.9831 0.860833 0.9245 0.9911 Uncertain 18_63492151_A->G 18 63492151 63492151 A G snp 133.03 1/1 12 4 0 4 1.0 intronic rs140155897 CDH7 AU NM_004361 exon6 c.61989+84A>G 0.00119808 0.002 Uncertain 18_63511410_-->ATTTATATATAT 18 63511410 63511410 - ATTTATATATAT indel 276.87 1/1 15 8 0 8 1.0 intronic rs145270355 CDH7 AU NM_004361 exon7 c.81223+109insATTTATATATAT 0.635783 0.879 Uncertain 18_63530016_A->G 18 63530016 63530016 A G snp 5487.77 1/1 99 196 0 196 1.0 exonic rs2291343 CDH7 AU nonsynonymous SNV NM_004361 exon11 c.A1727G p.N576S 0.629593 0.9196 0.589497 0.7023 0.9206 1 T 1.000 P -0.952 T 0.022 T 0.027 T Pathogenic 18_64179076_-->T 18 64179076 64179076 - T indel 365.73 1/1 36 15 0 15 1.0 intronic rs3831434 CDH19 AU NM_021153 exon3 c.6874+154insT 0.2502 0.4415 Uncertain 18_64748928_-->T 18 64748928 64748928 - T indel 907.73 0/1 99 107 63 44 0.41 downstream rs11423865 MIR5011 AU 0.555312 0.5784 0.75 . Uncertain 18_65178103_-->CA 18 65178103 65178103 - CA indel 158.74 0/1 25 6 1 5 0.83 UTR3 DSEL AU Uncertain 18_65179829_G->A 18 65179829 65179829 G A snp 2146.77 0/1 99 197 100 97 0.49 exonic DSEL AU nonsynonymous SNV NM_032160 exon2 c.C2047T p.P683S 0.435503 0.498 0.451407 0.4941 0.5245 1 T 0.0 P -0.930 T 0.0 T 0.0 T Pathogenic 18_66358403_G->T 18 66358403 66358403 G T snp 445.77 0/1 99 58 36 22 0.38 intronic rs309228 TMX3 AU NM_019022 exon8 c.14362-128G>T 0.231629 0.1677 Uncertain 18_66358515_AA->- 18 66358515 66358516 AA - indel 674.73 0/1 99 40 22 18 0.45 intronic rs143627864 TMX3 AU NM_019022 exon8 c.14362-16_14362-15delAA 0.0662939 0.1042 0.068379 0.1264 0.1571 Uncertain 18_66365129_T->G 18 66365129 66365129 T G snp 377.77 0/1 99 27 10 17 0.63 intronic rs433550 TMX3 AU NM_019022 exon10 c.20999-39T>G 0.270966 0.1667 0.254961 0.1768 0.1988 Uncertain 18_66368825_A->C 18 66368825 66368825 A C snp 442.77 0/1 99 45 26 19 0.42 intronic rs3745058 TMX3 AU NM_019022 exon12 c.24812-156A>C 0.0836661 0.1042 0.1003 0.1169 Uncertain 18_66382474_T->C 18 66382474 66382474 T C snp 34.77 0/1 31 3 1 2 0.67 upstream rs309248 CCDC102B AU 0.29393 0.1954 Uncertain 18_66504093_A->C 18 66504093 66504093 A C snp 4594.77 1/1 99 167 0 167 1.0 exonic rs485613 CCDC102B AU synonymous SNV NM_024781 exon2 c.A93C p.A31A 0.920927 1 0.924623 0.9783 1 Uncertain 18_66504459_A->T 18 66504459 66504459 A T snp 2716.77 1/1 99 97 0 97 1.0 exonic rs572020 CCDC102B AU nonsynonymous SNV NM_024781 exon2 c.A459T p.K153N 0.920927 1 0.927714 0.9785 1 0.18 T 0.0 P -0.945 T 0.002 T 0.005 T Pathogenic 18_66504715_T->C 18 66504715 66504715 T C snp 56.74 1/1 6 2 0 2 1.0 intronic rs569403 CCDC102B AU NM_024781 exon2 c.606+109T>C 0.96905 1 Uncertain 18_66513471_C->G 18 66513471 66513471 C G snp 54.74 1/1 6 2 0 2 1.0 intronic rs1954878 CCDC102B AU NM_024781 exon4 c.9549-78C>G 0.941693 1 Uncertain 18_66513615_A->G 18 66513615 66513615 A G snp 2382.77 1/1 99 88 0 88 1.0 exonic rs2187094 CCDC102B AU nonsynonymous SNV NM_024781 exon4 c.A893G p.K298R 0.367812 0.6438 0.296017 0.3888 0.6591 0.47 T 1.0 P -1.060 T 0.889 T 0.399 P Pathogenic 18_66513787_A->G 18 66513787 66513787 A G snp 1711.77 1/1 99 59 0 59 1.0 intronic rs67139927 CCDC102B AU NM_024781 exon4 c.9658+129A>G 0.385783 0.6438 Uncertain 18_66678131_A->G 18 66678131 66678131 A G snp 342.78 1/1 27 12 0 12 1.0 intronic rs7234663 CCDC102B AU NM_024781 exon7 c.174170-39A>G 0.99381 1 0.994679 0.9982 1 Uncertain 18_66678326_T->C 18 66678326 66678326 T C snp 839.77 0/1 99 85 48 37 0.44 exonic rs3763951 CCDC102B AU synonymous SNV NM_024781 exon7 c.T1419C p.N473N 0.0836661 0.2341 0.031755 0.0536 0.2219 Uncertain 18_66678453_A->G 18 66678453 66678453 A G snp 116.77 0/1 66 7 2 5 0.71 intronic rs930164 CCDC102B AU NM_024781 exon7 c.174341+112A>G 0.801518 0.7659 Uncertain 18_67345034_T->C 18 67345034 67345034 T C snp 2161.77 1/1 99 78 0 78 1.0 exonic rs8099030 DOK6 AU synonymous SNV NM_152721 exon4 c.T354C p.D118D 0.793131 0.9573 0.764186 0.8033 0.9615 Uncertain 18_67365585_A->G 18 67365585 67365585 A G snp 4471.77 1/1 99 157 0 157 1.0 intronic rs4581806 DOK6 AU NM_152721 exon5 c.297159-54A>G 0.698283 0.9464 Uncertain 18_67365668_A->G 18 67365668 67365668 A G snp 5906.77 1/1 99 235 0 235 1.0 exonic rs4426448 DOK6 AU synonymous SNV NM_152721 exon5 c.A438G p.T146T 0.485024 0.7331 0.459173 0.4675 0.7528 Uncertain 18_67406465_G->T 18 67406465 67406465 G T snp 182.9 1/1 15 6 0 6 1.0 intronic rs2164489 DOK6 AU NM_152721 exon6 c.337859+126G>T 0.500998 0.6855 Uncertain 18_67531642_T->C 18 67531642 67531642 T C snp 6956.77 1/1 99 250 1 249 1.0 exonic rs763361 CD226 AU nonsynonymous SNV NM_006566 exon7 c.A919G p.S307G 0.469449 0.6121 0.452099 0.5104 0.6367 0.06 T 0.0 P -0.940 T 0.001 T 0.002 T ID=CM097950;DIS=Autoimmune disease, association with;TAG=DP;PUB=18971939 DP Pathogenic 18_67563309_A->C 18 67563309 67563309 A C snp 1792.77 1/1 99 65 0 65 1.0 intronic rs1630425 CD226 AU NM_006566 exon4 c.31732+28A>C 0.960264 1 0.959935 0.9888 1 Uncertain 18_67563348_T->C 18 67563348 67563348 T C snp 1153.77 1/1 84 39 0 39 1.0 intronic rs1788115 CD226 AU NM_006566 exon4 c.31732+67T>C 0.899361 0.9702 Uncertain 18_67613926_A->G 18 67613926 67613926 A G snp 342.78 1/1 27 13 0 13 1.0 intronic rs10782036 CD226 AU NM_006566 exon5 c.82420-43A>G 0.896166 1 0.896199 0.9624 1 Uncertain 18_67614674_-->A 18 67614674 67614674 - A indel 840.73 1/1 99 37 0 37 1.0 splicing rs3214811 CD226 AU NM_006566 exon6 c.83120+5insA 0.60643 0.7837 0.7188 0.8004 Pathogenic 18_67718688_A->G 18 67718688 67718688 A G snp 5163.77 1/1 99 198 1 197 0.99 exonic rs4891392 RTTN AR nonsynonymous SNV NM_173630 exon39 c.T5282C p.F1761S 0.790735 1 0.802692 0.9184 0.9994 0.55 T 0.0 P -1.032 T 0.0 T 0.001 T CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000118217.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 18_67724802_A->G 18 67724802 67724802 A G snp 264.8 1/1 21 7 0 7 1.0 intronic rs12968602 RTTN AR NM_173630 exon13 c.53591-175A>G 0.748602 0.996 Uncertain 18_67726975_A->G 18 67726975 67726975 A G snp 511.77 1/1 39 16 0 16 1.0 intronic rs11876398 RTTN AR NM_173630 exon14 c.55699-110A>G 0.707668 0.994 Uncertain 18_67727003_A->T 18 67727003 67727003 A T snp 867.77 1/1 63 28 0 28 1.0 intronic rs1435086 RTTN AR NM_173630 exon14 c.55699-82A>T 0.912141 1 Uncertain 18_67733234_T->A 18 67733234 67733234 T A snp 699.77 1/1 51 21 0 21 1.0 intronic rs11151561 RTTN AR NM_173630 exon15 c.61772+76T>A 0.727236 0.994 Uncertain 18_67741117_G->A 18 67741117 67741117 G A snp 2644.77 1/1 99 94 0 94 1.0 intronic rs1369292 RTTN AR NM_173630 exon16 c.69755-24G>A 0.726238 0.994 0.737284 0.8623 0.9977 Uncertain 18_67741309_G->A 18 67741309 67741309 G A snp 986.77 1/1 72 28 0 28 1.0 intronic rs1369293 RTTN AR NM_173630 exon16 c.69844+79G>A 0.789137 1 Uncertain 18_67742801_G->A 18 67742801 67742801 G A snp 2106.77 1/1 99 74 0 74 1.0 intronic rs285228 RTTN AR NM_173630 exon17 c.71391+24G>A 0.857827 1 0.868570 0.9430 0.9993 Uncertain 18_67759549_C->A 18 67759549 67759549 C A snp 474.77 1/1 36 15 0 15 1.0 intronic rs4891394 RTTN AR NM_173630 exon20 c.88070+93C>A 0.783347 0.996 Uncertain 18_67809647_A->C 18 67809647 67809647 A C snp 427.77 0/1 42 19 5 14 0.74 intronic rs11665653 RTTN AR NM_173630 exon31 c.138237+24A>C 0.811302 0.9861 0.5998 0.6111 Uncertain 18_67812773_G->A 18 67812773 67812773 G A snp 375.77 1/1 30 11 0 11 1.0 intronic rs11662011 RTTN AR NM_173630 exon32 c.141461-74G>A 0.704273 0.994 Uncertain 18_67817711_A->G 18 67817711 67817711 A G snp 111.77 0/1 99 12 7 5 0.42 intronic rs78448243 RTTN AR NM_173630 exon35 c.146457-132A>G 0.0131789 0.0565 Uncertain 18_67817744_T->C 18 67817744 67817744 T C snp 601.77 1/1 45 20 0 20 1.0 intronic rs12606964 RTTN AR NM_173630 exon35 c.146457-99T>C 0.841653 1 Uncertain 18_67817961_T->G 18 67817961 67817961 T G snp 704.77 0/1 99 44 17 27 0.61 exonic RTTN AR nonsynonymous SNV NM_173630 exon15 c.A1938C p.L646F 0.01 T 1.000 D -0.321 T 1.0 D 0.999 D Pathogenic 18_67818046_C->T 18 67818046 67818046 C T snp 266.8 1/1 21 9 0 9 1.0 intronic rs12604751 RTTN AR NM_173630 exon35 c.146583+77C>T 0.991613 1 Uncertain 18_67818066_T->C 18 67818066 67818066 T C snp 143.03 1/1 12 5 0 5 1.0 intronic rs12607032 RTTN AR NM_173630 exon35 c.146583+97T>C 0.803115 0.996 Uncertain 18_67860719_T->C 18 67860719 67860719 T C snp 702.77 1/1 54 25 0 25 1.0 intronic rs283250 RTTN AR NM_173630 exon42 c.189303+30T>C 0.948083 1 0.949193 0.9800 1 Uncertain 18_67863773_A->G 18 67863773 67863773 A G snp 1310.77 0/1 99 141 80 61 0.43 exonic rs141156594 RTTN AR nonsynonymous SNV NM_173630 exon7 c.T805C p.F269L 0.00738818 0.0347 0.0029 0.0378 0.04 T 1.000 D -0.406 T 1.0 D 0.999 D CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000118227.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 18_67863850_-->CTC 18 67863850 67863850 - CTC indel 6790.73 1/1 99 131 0 131 1.0 exonic rs58913700 RTTN AR nonframeshift insertion NM_173630 exon7 c.727_728insGAG p.D243delinsGD 0.952676 1 0.954577 0.9870 1 Uncertain 18_67871343_A->C 18 67871343 67871343 A C snp 4039.77 1/1 99 157 0 157 1.0 exonic rs3911730 RTTN AR nonsynonymous SNV NM_173630 exon3 c.T376G p.S126A 0.71226 0.994 0.727273 0.8654 0.9976 0.85 T 0.0 P -0.920 T 0.0 T 0.002 T CLINSIG=probable-non-pathogenic,probable-non-pathogenic;CLNDBN=not_specified,not_specified;CLNREVSTAT=no_assertion_criteria_provided,no_assertion_criteria_provided;CLNACC=RCV000118208.2,RCV000118207.2;CLNDSDB=MedGen,MedGen;CLNDSDBID=CN169374,CN169374 Pathogenic 18_70208898_G->T 18 70208898 70208898 G T snp 141.03 1/1 12 4 0 4 1.0 intronic rs1223504 CBLN2 AU NM_182511 exon3 c.3628-140G>T 0.583666 0.381 Uncertain 18_70209321_C->A 18 70209321 70209321 C A snp 374.77 1/1 30 14 0 14 1.0 exonic rs7237888 CBLN2 AU synonymous SNV NM_182511 exon3 c.G75T p.P25P 0.563099 0.381 0.758595 0.8421 0.4347 Uncertain 18_70416367_-->A 18 70416367 70416367 - A indel 443.73 0/1 99 69 35 34 0.49 intronic rs35742923 NETO1 AU NM_001201465 exon2 c.61+44insA 0.676917 0.4534 0.741054 0.6867 0.4307 Uncertain 18_70417396_C->T 18 70417396 70417396 C T snp 2043.77 1/1 99 68 1 67 0.99 exonic rs922999 NETO1 AU nonsynonymous SNV NM_001201465 exon9 c.G1442A p.S481N 0.988419 1 0.989466 0.9973 1 0.41 T 1.0 P -0.919 T 0.991 D 0.632 D Pathogenic 18_70531818_C->T 18 70531818 70531818 C T snp 99.28 1/1 9 3 0 3 1.0 intronic rs948877 NETO1 AU NM_001201465 exon9 c.115780-224C>T 0.322085 0.6071 Uncertain 18_70532186_A->- 18 70532186 70532186 A - indel 503.73 1/1 72 39 0 39 1.0 splicing rs567519288 NETO1 AU NM_001201465 exon9 c.115918+6delA 0.46865 0.5694 0.4799 0.5318 Pathogenic 18_70532840_T->G 18 70532840 70532840 T G snp 1476.77 1/1 99 58 0 58 1.0 UTR5 rs10164255 NETO1 AU 0.710863 0.877 0.660234 0.6366 0.8799 Uncertain 18_70532977_A->G 18 70532977 70532977 A G snp 439.77 1/1 33 18 0 18 1.0 intronic rs10163845 NETO1 AU NM_138999 exon5 c.30385+43A>G 0.646965 0.7262 Uncertain 18_71442075_T->C 18 71442075 71442075 T C snp 504.77 0/1 99 72 48 24 0.33 intergenic rs11872509 LOC100505817 AU 0.434305 0.5437 0.431810 0.5825 0.5768 Uncertain 18_71442077_G->T 18 71442077 71442077 G T snp 541.77 0/1 99 74 48 26 0.35 intergenic rs11875403 LOC100505817 AU 0.433906 0.5437 0.5826 0.5767 Uncertain 18_71749154_-->T 18 71749154 71749154 - T indel 508.73 0/1 99 32 14 18 0.56 intronic rs3831448 FBXO15 AU NM_001142958 exon2 c.8466-7insT 0.313299 0.2609 0.275292 0.2150 0.2845 Uncertain 18_71749359_G->A 18 71749359 71749359 G A snp 1829.77 0/1 99 176 101 75 0.43 intronic rs12962744 FBXO15 AU NM_001142958 exon2 c.8591+73G>A 0.241613 0.2857 Uncertain 18_71749506_T->A 18 71749506 71749506 T A snp 150.77 0/1 97 8 3 5 0.63 intronic rs74378884 FBXO15 AU NM_001142958 exon2 c.8591+220T>A 0.0720847 0.129 Uncertain 18_71803119_G->A 18 71803119 71803119 G A snp 157.77 0/1 99 82 67 15 0.18 intronic rs199793563 FBXO15 AU NM_001142958 exon8 c.62406+18G>A 4.532e-05 0 Uncertain 18_71803119_-->A 18 71803119 71803119 - A indel 578.73 0/1 99 82 31 51 0.62 intronic rs397807232 FBXO15 AU NM_001142958 exon8 c.62406+18insA 0.228035 0.3492 0.184265 0.1958 0.3630 Uncertain 18_71815140_G->A 18 71815140 71815140 G A snp 315.77 0/1 99 30 20 10 0.33 upstream rs3813113 FBXO15 AU 0.125399 0.13 Uncertain 18_71815143_T->C 18 71815143 71815143 T C snp 313.77 0/1 99 29 19 10 0.34 upstream rs3813112 FBXO15 AU 0.0726837 0.13 Uncertain 18_71815145_C->G 18 71815145 71815145 C G snp 319.77 0/1 99 29 19 10 0.34 upstream rs3813111 FBXO15 AU 0.1252 0.13 Uncertain 18_71815214_C->G 18 71815214 71815214 C G snp 43.77 0/1 66 4 2 2 0.5 upstream rs3813110 FBXO15 AU 0.0728834 0.131 Uncertain 18_71815965_C->A 18 71815965 71815965 C A snp 398.77 0/1 99 23 7 16 0.7 UTR5 rs3737510 TIMM21 AU 0.125399 0.1319 Uncertain 18_71815969_C->G 18 71815969 71815969 C G snp 415.77 0/1 99 23 7 16 0.7 UTR5 rs3737511 TIMM21 AU 0.0732827 0.1319 Uncertain 18_71816278_G->A 18 71816278 71816278 G A snp 524.77 0/1 99 61 40 21 0.34 exonic rs3737512 TIMM21 AU nonsynonymous SNV NM_014177 exon1 c.G235A p.G79S 0.125599 0.1319 0.094802 0.0565 0.1151 0.64 T 0.0 P -0.950 T 0.0 T 0.0 T Pathogenic 18_71920966_T->C 18 71920966 71920966 T C snp 3094.77 1/1 99 117 0 117 1.0 intronic rs1790871 CYB5A AR NM_001190807 exon1 c.82+66T>C 0.983027 1 Uncertain 18_71930734_T->C 18 71930734 71930734 T C snp 2293.77 1/1 99 87 0 87 1.0 intronic rs2032262 CYB5A AR NM_001190807 exon3 c.9894+22T>C 0.922125 0.994 0.937721 0.9695 0.9968 Uncertain 18_71930758_G->A 18 71930758 71930758 G A snp 1617.77 1/1 99 60 0 60 1.0 intronic rs2032263 CYB5A AR NM_001190807 exon3 c.9894+46G>A 0.526358 0.5268 0.595476 0.6325 0.4880 Uncertain 18_71930834_-->TG 18 71930834 71930834 - TG indel 633.73 1/1 39 13 0 13 1.0 intronic rs144732931 CYB5A AR NM_001190807 exon3 c.9894+122insTG 0.922324 0.994 Uncertain 18_71930844_C->G 18 71930844 71930844 C G snp 172.9 1/1 15 6 0 6 1.0 intronic rs2032264 CYB5A AR NM_001190807 exon3 c.9894+132C>G 0.922324 0.994 Uncertain 18_71930889_A->G 18 71930889 71930889 A G snp 48.74 1/1 6 2 0 2 1.0 intronic rs2032265 CYB5A AR NM_001190807 exon3 c.9894+177A>G 0.841254 0.9583 Uncertain 18_72020895_C->T 18 72020895 72020895 C T snp 1970.77 0/1 99 168 86 82 0.49 exonic rs79227042 C18orf63 AU stopgain NM_001174123 exon12 c.C1393T p.Q465X 0.000199681 0.001 0.0006 0.0051 0.2 T 1 A Pathogenic 18_72021717_T->C 18 72021717 72021717 T C snp 3455.77 1/1 99 125 0 125 1.0 exonic rs12606060 C18orf63 AU nonsynonymous SNV NM_001174123 exon13 c.T2027C p.L676P 0.998203 1 0.9996 1 0.28 T 0.000 P -1.009 T 0.0 T 0.0 T Pathogenic 18_72109174_C->A 18 72109174 72109174 C A snp 1729.77 1/1 99 60 0 60 1.0 intronic rs1559805 FAM69C AU NM_001044369 exon2 c.5451-12C>A 0.501198 0.7044 0.384991 0.4705 0.7365 Uncertain 18_72113730_A->G 18 72113730 72113730 A G snp 1783.77 1/1 99 63 0 63 1.0 intronic rs3861310 FAM69C AU NM_001044369 exon3 c.10105-110A>G 0.9375 1 Uncertain 18_72114455_C->T 18 72114455 72114455 C T snp 4410.77 1/1 99 163 1 162 0.99 exonic rs8087020 FAM69C AU nonsynonymous SNV NM_001044369 exon2 c.G262A p.E88K 0.983227 1 0.983786 0.9951 1 1 T 0.0 P -0.989 T 0.0 T 0.001 T Pathogenic 18_72167124_C->G 18 72167124 72167124 C G snp 1814.77 1/1 99 58 0 58 1.0 UTR5 rs3764509 CNDP2 AU 0.359026 0.2986 Uncertain 18_72168608_G->A 18 72168608 72168608 G A snp 1562.77 1/1 99 60 0 60 1.0 exonic rs2303463 CNDP2 AU synonymous SNV NM_018235 exon3 c.G105A p.P35P 0.246206 0.2956 0.196832 0.2147 0.2957 Uncertain 18_72173271_C->- 18 72173271 72173271 C - indel 1183.73 1/1 90 33 0 33 1.0 intronic rs35061137 CNDP2 AU NM_018235 exon4 c.6038+25delC 0.214457 0.2917 0.171381 0.2104 0.2929 Uncertain 18_72173278_G->A 18 72173278 72173278 G A snp 826.77 1/1 60 30 0 30 1.0 intronic rs34780792 CNDP2 AU NM_018235 exon4 c.6038+32G>A 0.215056 0.2937 0.169205 0.2110 0.2936 Uncertain 18_72176083_T->C 18 72176083 72176083 T C snp 2682.77 1/1 99 95 0 95 1.0 exonic rs2278161 CNDP2 AU nonsynonymous SNV NM_018235 exon5 c.T376C p.Y126H 0.215855 0.3006 0.187606 0.2269 0.3018 0.01 T 1.0 P -1.136 T 0.535 P 0.778 P Pathogenic 18_72178161_T->C 18 72178161 72178161 T C snp 1970.77 1/1 99 74 0 74 1.0 exonic rs2278159 CNDP2 AU synonymous SNV NM_018235 exon6 c.T570C p.Y190Y 0.202276 0.2986 0.163540 0.2032 0.2992 Uncertain 18_72178300_G->T 18 72178300 72178300 G T snp 602.77 1/1 45 20 0 20 1.0 intronic rs2278158 CNDP2 AU NM_001168499 exon3 c.11040+52G>T 0.202276 0.2986 0.159653 0.2019 0.2995 Uncertain 18_72179579_G->A 18 72179579 72179579 G A snp 3040.77 1/1 99 114 0 114 1.0 intronic rs734559 CNDP2 AU NM_001168499 exon4 c.12474-103G>A 0.216054 0.3006 Uncertain 18_72180739_G->A 18 72180739 72180739 G A snp 1632.77 1/1 99 50 0 50 1.0 intronic rs2241510 CNDP2 AU NM_001168499 exon5 c.13585-54G>A 0.213259 0.3075 Uncertain 18_72183695_T->A 18 72183695 72183695 T A snp 1169.77 1/1 87 31 0 31 1.0 intronic rs2241509 CNDP2 AU NM_001168499 exon6 c.16419+68T>A 0.383786 0.3244 Uncertain 18_72185972_G->A 18 72185972 72185972 G A snp 592.77 1/1 45 15 0 15 1.0 intronic rs890337 CNDP2 AU NM_001168499 exon7 c.18667+97G>A 0.882987 0.8899 Uncertain 18_72186059_G->A 18 72186059 72186059 G A snp 2380.77 1/1 99 80 0 80 1.0 intronic rs733062 CNDP2 AU NM_001168499 exon8 c.18975-124G>A 0.972244 1 Uncertain 18_72186175_-->C 18 72186175 72186175 - C indel 5225.73 1/1 99 161 0 161 1.0 intronic rs397956366 CNDP2 AU NM_001168499 exon8 c.18975-8insC 0.798123 0.8938 0.707668 0.7647 0.8912 Uncertain 18_72186404_G->A 18 72186404 72186404 G A snp 726.77 1/1 54 29 0 29 1.0 intronic rs2241508 CNDP2 AU NM_001168499 exon8 c.19123+73G>A 0.596446 0.876 Uncertain 18_72187612_C->T 18 72187612 72187612 C T snp 224.84 1/1 18 6 0 6 1.0 UTR3 rs890336 CNDP2 AU 0.889377 0.9038 Uncertain 18_72201918_G->A 18 72201918 72201918 G A snp 812.77 0/1 99 62 26 36 0.58 exonic rs11151964 CNDP1 AU nonsynonymous SNV NM_032649 exon1 c.G16A p.G6R 0.113818 0.0923 0.129171 0.1128 0.1012 0.01 T 0.0 P -0.952 T 0.001 T 0.001 T Pathogenic 18_72223591_-->TGC 18 72223591 72223591 - TGC indel 2222.73 0/1 99 114 61 53 0.46 exonic rs10663835 CNDP1 AU nonframeshift insertion NM_032649 exon2 c.43_44insTGC p.V15delinsVL 0.4196 0.8627 ID=COSM307404;OCCURENCE=1(kidney),1(large_intestine) Uncertain 18_72226455_A->T 18 72226455 72226455 A T snp 981.77 1/1 72 30 0 30 1.0 intronic rs12605490 CNDP1 AU NM_032649 exon3 c.24655-102A>T 0.758387 0.9345 Uncertain 18_72226539_T->C 18 72226539 72226539 T C snp 2870.77 1/1 99 101 0 101 1.0 intronic rs12607796 CNDP1 AU NM_032649 exon3 c.24655-18T>C 0.757188 0.9335 0.729279 0.7963 0.9346 Uncertain 18_72226809_C->A 18 72226809 72226809 C A snp 77.77 0/1 69 5 2 3 0.6 intronic rs7239132 CNDP1 AU NM_032649 exon3 c.24805+102C>A 0.386182 0.376 Uncertain 18_72227920_A->G 18 72227920 72227920 A G snp 59.77 0/1 88 10 7 3 0.3 intronic rs142520270 CNDP1 AU NM_032649 exon4 c.26188-170A>G 0.00998403 0.0169 Uncertain 18_72228124_A->G 18 72228124 72228124 A G snp 5155.77 1/1 99 185 0 185 1.0 exonic rs4263028 CNDP1 AU nonsynonymous SNV NM_032649 exon4 c.A337G p.I113V 0.981629 1 0.982547 0.9949 1 1 T 0.008 P -0.898 T 0.0 T 0.0 T Pathogenic 18_72228269_G->A 18 72228269 72228269 G A snp 879.77 0/1 99 48 18 30 0.63 intronic rs4329999 CNDP1 AU NM_032649 exon4 c.26351+16G>A 0.270567 0.4474 0.202061 0.2944 0.4274 Uncertain 18_72229068_G->A 18 72229068 72229068 G A snp 148.77 0/1 63 7 2 5 0.71 intronic rs188196608 CNDP1 AU NM_032649 exon5 c.27379-213G>A Uncertain 18_72229212_G->A 18 72229212 72229212 G A snp 1548.77 0/1 99 164 91 73 0.45 intronic rs9967490 CNDP1 AU NM_032649 exon5 c.27379-69G>A 0.345048 0.1171 Uncertain 18_72238282_C->T 18 72238282 72238282 C T snp 254.77 0/1 99 21 12 9 0.43 intronic CNDP1 AU NM_032649 exon7 c.36518-138C>T Uncertain 18_72238283_A->G 18 72238283 72238283 A G snp 655.77 1/1 48 21 0 21 1.0 intronic rs4892244 CNDP1 AU NM_032649 exon7 c.36518-137A>G 0.987021 1 Uncertain 18_72245660_-->G 18 72245660 72245660 - G indel 1589.73 0/1 99 82 36 46 0.56 intronic rs141377822 CNDP1 AU NM_032649 exon9 c.43660+98insG 0.306709 0.3065 Uncertain 18_72245760_A->G 18 72245760 72245760 A G snp 74.77 0/1 99 6 3 3 0.5 intronic rs6566814 CNDP1 AU NM_032649 exon9 c.43660+198A>G 0.504992 0.4405 Uncertain 18_72247278_C->T 18 72247278 72247278 C T snp 846.77 1/1 63 23 0 23 1.0 intronic rs4892247 CNDP1 AU NM_032649 exon10 c.45463-87C>T 0.722244 0.8115 Uncertain 18_72250762_T->C 18 72250762 72250762 T C snp 1891.77 0/1 99 157 75 82 0.52 intronic rs11659237 CNDP1 AU NM_032649 exon11 c.48894-34T>C 0.619209 0.6726 0.590727 0.6610 0.6529 Uncertain 18_72264397_A->C 18 72264397 72264397 A C snp 1682.77 1/1 99 55 0 55 1.0 ncRNA_exonic rs7505285 LINC00909 AU 0.735224 0.9395 Uncertain 18_72264406_A->G 18 72264406 72264406 A G snp 1956.77 1/1 99 65 0 65 1.0 ncRNA_exonic rs7505289 LINC00909 AU 0.804313 0.9534 Uncertain 18_72264473_C->T 18 72264473 72264473 C T snp 3782.77 1/1 99 142 1 141 0.99 ncRNA_exonic rs7505334 LINC00909 AU 0.734824 0.9395 Uncertain 18_72343008_T->C 18 72343008 72343008 T C snp 7219.77 1/1 99 250 0 250 1.0 exonic rs7243081 ZNF407 AU synonymous SNV NM_017757 exon1 c.T33C p.D11D 0.99361 1 0.998746 0.9898 1 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000118938.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 18_72493314_G->T 18 72493314 72493314 G T snp 224.84 1/1 18 6 0 6 1.0 intronic rs7228438 ZNF407 AU NM_001146190 exon3 c.150408-69G>T 0.678514 0.9484 Uncertain 18_72589058_T->C 18 72589058 72589058 T C snp 138.77 0/1 99 10 4 6 0.6 intronic rs2303440 ZNF407 AU NM_001146189 exon4 c.246177-94T>C 0.135783 0.1329 Uncertain 18_72593097_G->A 18 72593097 72593097 G A snp 560.77 0/1 99 57 30 27 0.47 intronic rs75375525 ZNF407 AU NM_001146189 exon5 c.250100+22G>A 0.0978435 0.1131 0.093021 0.1483 0.1743 Uncertain 18_72593118_C->T 18 72593118 72593118 C T snp 1259.77 1/1 93 39 0 39 1.0 intronic rs2628126 ZNF407 AU NM_001146189 exon5 c.250100+43C>T 0.930511 0.996 0.946229 0.9781 0.9989 Uncertain 18_72593197_G->A 18 72593197 72593197 G A snp 31.77 0/1 60 6 4 2 0.33 intronic rs12953433 ZNF407 AU NM_001146189 exon5 c.250100+122G>A 0.366214 0.3958 Uncertain 18_72776121_G->A 18 72776121 72776121 G A snp 4374.77 1/1 99 150 0 150 1.0 exonic rs3744913 ZNF407 AU synonymous SNV NM_017757 exon8 c.G6444A p.T2148T 0.760383 0.9167 0.761511 0.8322 0.9017 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000118943.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 18_72914280_G->A 18 72914280 72914280 G A snp 847.77 0/1 99 94 56 38 0.4 exonic rs7230037 ZADH2 AU synonymous SNV NM_175907 exon2 c.C225T p.N75N 0.297524 0.4563 0.313240 0.3816 0.4771 Uncertain 18_72998899_G->A 18 72998899 72998899 G A snp 1853.77 0/1 99 177 99 78 0.44 exonic rs33930274 TSHZ1 AD nonsynonymous SNV NM_005786 exon2 c.G1402A p.A468T 0.0261581 0.0605 0.030755 0.0327 0.0817 0.31 T 1 N -0.969 T 0.0 T 0.0 T Pathogenic 18_72999777_C->T 18 72999777 72999777 C T snp 3459.77 0/1 99 250 115 135 0.54 exonic rs3744910 TSHZ1 AD synonymous SNV NM_005786 exon2 c.C2280T p.N760N 0.00958466 0.0427 0.000231 0.0053 0.0546 Uncertain 18_73130653_-->T 18 73130653 73130653 - T indel 455.73 1/1 51 17 0 17 1.0 intronic rs3214645 SMIM21 AU NM_001037331 exon2 c.7922-87insT 0.585463 0.7837 Uncertain 18_73130706_T->- 18 73130706 73130706 T - indel 1908.73 1/1 99 61 0 61 1.0 intronic rs33995140 SMIM21 AU NM_001037331 exon2 c.7922-34delT 0.598043 0.7857 0.4416 0.8039 Uncertain 18_74074707_C->T 18 74074707 74074707 C T snp 248.8 1/1 21 7 0 7 1.0 intronic rs11150946 ZNF516 AU NM_014643 exon1 c.60+195C>T 0.586062 0.6161 Uncertain 18_74090958_G->- 18 74090958 74090958 G - indel 4567.73 1/1 99 144 0 144 1.0 splicing rs398033573 ZNF516 AU NM_014643 exon5 c.16506delG 1 1 0.996267 0.9998 1 ID=COSM1389770;OCCURENCE=5(upper_aerodigestive_tract),23(large_intestine) Pathogenic 18_74092366_G->A 18 74092366 74092366 G A snp 1083.77 1/1 78 34 0 34 1.0 intronic rs12970367 ZNF516 AU NM_014643 exon5 c.17807+107G>A 0.700679 0.9375 Uncertain 18_74153146_G->A 18 74153146 74153146 G A snp 550.77 0/1 99 50 27 23 0.46 intronic rs59762437 ZNF516 AU NM_014643 exon6 c.78748-54G>A 0.251997 0.4345 Uncertain 18_74208486_G->- 18 74208486 74208486 G - indel 506.73 0/1 99 53 23 30 0.57 splicing rs3841258 C18orf65 AU NM_001272093 exon3 c.822delG 0.791933 0.5952 0.7914 0.5130 Pathogenic 18_74208573_G->A 18 74208573 74208573 G A snp 83.28 1/1 9 3 0 3 1.0 exonic rs4891164 C18orf65 AU nonsynonymous SNV NM_001272093 exon3 c.G416A p.R139K 0.878395 0.9444 Pathogenic 18_74591992_-->T 18 74591992 74591992 - T indel 290 0/1 12 22 3 19 0.86 intronic rs397802243 ZNF236 AU NM_007345 exon8 c.55755-76insT 0.698283 0.7222 Uncertain 18_74610875_G->A 18 74610875 74610875 G A snp 144.77 0/1 99 12 7 5 0.42 intronic rs609684 ZNF236 AU NM_007345 exon11 c.74661-99G>A 0.348442 0.499 Uncertain 18_74611127_A->G 18 74611127 74611127 A G snp 4224.77 1/1 99 148 0 148 1.0 exonic rs608433 ZNF236 AU nonsynonymous SNV NM_007345 exon11 c.A1837G p.I613V 0.917732 0.8631 0.945359 0.9463 0.8889 1 T 0.0 P -0.995 T 0.0 T 0.0 T Pathogenic 18_74622529_A->G 18 74622529 74622529 A G snp 31.77 0/1 60 10 7 3 0.3 intronic rs684192 ZNF236 AU NM_007345 exon16 c.86302-86A>G 0.354633 0.499 Uncertain 18_74627577_C->T 18 74627577 74627577 C T snp 295.77 0/1 99 15 5 10 0.67 intronic rs537945 ZNF236 AU NM_007345 exon19 c.91289-25C>T 0.352037 0.499 0.317224 0.3809 0.5232 Uncertain 18_74638978_T->C 18 74638978 74638978 T C snp 762.77 0/1 99 69 40 29 0.42 intronic rs72985226 ZNF236 AU NM_007345 exon23 c.102679-14T>C 0.109625 0.0913 0.111019 0.1392 0.0996 Uncertain 18_74648108_GT->- 18 74648108 74648109 GT - indel 990.73 0/1 99 77 44 33 0.43 intronic rs34003753 ZNF236 AU NM_007345 exon26 c.112798-1003_112798-1002delGT 0.357228 0.499 Uncertain 18_74648536_G->T 18 74648536 74648536 G T snp 932.77 1/1 69 26 0 26 1.0 intronic rs630229 ZNF236 AU NM_007345 exon26 c.112798-575G>T 0.998802 1 Uncertain 18_74671768_T->C 18 74671768 74671768 T C snp 692.77 0/1 99 61 33 28 0.46 exonic rs470403 ZNF236 AU synonymous SNV NM_007345 exon29 c.T5232C p.H1744H 0.587061 0.6587 0.612763 0.6387 0.6531 Uncertain 18_74680259_C->T 18 74680259 74680259 C T snp 3147.77 1/1 99 125 0 125 1.0 exonic rs657066 ZNF236 AU synonymous SNV NM_007345 exon31 c.C5502T p.A1834A 0.892173 0.9772 0.895232 0.9531 0.9872 Uncertain 18_74680369_C->T 18 74680369 74680369 C T snp 1648.77 1/1 99 57 0 57 1.0 UTR3 rs470774 ZNF236 AU 0.969848 0.999 Uncertain 18_74680470_A->G 18 74680470 74680470 A G snp 56.74 1/1 6 2 0 2 1.0 UTR3 rs470224 ZNF236 AU 0.970447 1 Uncertain 18_74692336_A->G 18 74692336 74692336 A G snp 416.77 0/1 99 50 28 22 0.44 UTR3 rs9199 MBP AU 0.306909 0.3294 0.289789 0.3287 0.3429 Uncertain 18_74701984_G->A 18 74701984 74701984 G A snp 875.77 1/1 63 32 0 32 1.0 exonic rs470797 MBP AU synonymous SNV NM_001025101 exon5 c.C609T p.Y203Y 0.232827 0.3204 0.171536 0.1927 0.3464 Uncertain 18_74702113_-->T 18 74702113 74702113 - T indel 272.73 1/1 36 14 0 14 1.0 intronic rs35688328 MBP AU NM_001025090 exon5 c.9634+97insT 0.335463 0.3988 Uncertain 18_74778056_C->T 18 74778056 74778056 C T snp 141.77 0/1 99 14 9 5 0.36 intronic rs12327285 MBP AU NM_001025100 exon2 c.49484-197C>T 0.0890575 0.0883 Uncertain 18_74778515_G->T 18 74778515 74778515 G T snp 4276.77 1/1 99 169 1 168 0.99 intronic rs7241461 MBP AU NM_001025100 exon2 c.49572+174G>T 0.49381 0.6052 0.454831 0.4868 0.5965 Uncertain 18_74962447_A->G 18 74962447 74962447 A G snp 56.77 0/1 85 15 12 3 0.2 UTR5 rs13306375 GALR1 AU 0.35024 0.2986 Uncertain 18_74962645_T->C 18 74962645 74962645 T C snp 1855.77 0/1 99 162 84 78 0.48 exonic rs5374 GALR1 AU synonymous SNV NM_001480 exon1 c.T141C p.G47G 0.489816 0.374 0.588127 0.5824 0.3660 Uncertain 18_74980498_-->CCT 18 74980498 74980498 - CCT indel 1151.73 0/1 99 45 18 27 0.6 intronic rs138695316 GALR1 AU NM_001480 exon3 c.18036-42insCCT 0.183706 0.1935 0.1230 0.2108 Uncertain 18_74980809_G->A 18 74980809 74980809 G A snp 6148.77 1/1 99 223 0 223 1.0 exonic rs5376 GALR1 AU nonsynonymous SNV NM_001480 exon3 c.G1001A p.S334N 0.90615 1 0.895571 0.9731 1 0.68 T 0.0 P -0.988 T 0.0 T 0.0 T Pathogenic 18_76740515_C->A 18 76740515 76740515 C A snp 130.03 1/1 12 4 0 4 1.0 intronic SALL3 AU NM_171999 exon1 c.82+159C>A 0.981629 1 Uncertain 18_76753588_A->G 18 76753588 76753588 A G snp 2904.77 1/1 99 92 0 92 1.0 exonic SALL3 AU nonsynonymous SNV NM_171999 exon2 c.A1597G p.T533A 0.71885 0.9127 0.690387 0.7993 0.9229 0.14 T 1.000 P -1.060 T 0.954 T 0.437 D Pathogenic 18_76753768_C->G 18 76753768 76753768 C G snp 2806.77 1/1 99 107 0 107 1.0 exonic SALL3 AU nonsynonymous SNV NM_171999 exon2 c.C1777G p.L593V 0.793331 0.9226 0.820336 0.8494 0.9261 0.56 T 0.0 P -0.976 T 0.013 T 0.022 T Pathogenic 18_76754466_C->T 18 76754466 76754466 C T snp 5617.77 1/1 99 192 1 191 0.99 exonic SALL3 AU synonymous SNV NM_171999 exon2 c.C2475T p.Y825Y 0.778954 0.9187 0.780354 0.8245 0.9225 Uncertain 18_76829525_A->G 18 76829525 76829525 A G snp 818.77 1/1 60 27 0 27 1.0 exonic ATP9B AU nonsynonymous SNV NM_198531 exon1 c.A115G p.S39G 0.314297 0.4494 0.171215 0.3669 0.5308 0.38 T 1.000 P -0.953 T 0.0 T 0.0 T Pathogenic 18_76933569_T->C 18 76933569 76933569 T C snp 387.77 1/1 30 10 0 10 1.0 intronic rs11665148 ATP9B AU NM_198531 exon8 c.107402-3243T>C 0.315495 0.4494 Uncertain 18_76934104_C->A 18 76934104 76934104 C A snp 558.77 1/1 42 15 0 15 1.0 intronic rs9954209 ATP9B AU NM_198531 exon8 c.107402-2708C>A 0.307508 0.4494 Uncertain 18_77102181_C->T 18 77102181 77102181 C T snp 2111.77 0/1 99 173 81 92 0.53 intronic rs572786037 ATP9B AU NM_198531 exon20 c.272857-86C>T 0.000399361 0.002 Uncertain 18_77102423_G->T 18 77102423 77102423 G T snp 1132.77 1/1 84 34 0 34 1.0 intronic rs11659393 ATP9B AU NM_198531 exon20 c.272956+57G>T 0.272165 0.4871 Uncertain 18_77107934_C->T 18 77107934 77107934 C T snp 1630.77 1/1 99 69 0 69 1.0 intronic rs9965202 ATP9B AU NM_198531 exon24 c.278515+9C>T 0.905551 0.999 0.856451 0.8881 0.9993 Uncertain 18_77132755_T->G 18 77132755 77132755 T G snp 1416.77 1/1 99 54 0 54 1.0 intronic rs2271392 ATP9B AU NM_198531 exon27 c.303414-69T>G 0.28095 0.4911 0.224266 Uncertain 18_77132793_G->A 18 77132793 77132793 G A snp 1342.77 1/1 96 53 0 53 1.0 intronic rs3817178 ATP9B AU NM_198531 exon27 c.303414-31G>A 0.283746 0.4911 0.213901 0.2873 0.5203 Uncertain 18_77134252_G->A 18 77134252 77134252 G A snp 211.84 1/1 18 6 0 6 1.0 intronic rs3786181 ATP9B AU NM_198531 exon28 c.304691+151G>A 0.280751 0.4911 Uncertain 18_77134275_G->A 18 77134275 77134275 G A snp 94.28 1/1 9 3 0 3 1.0 intronic rs3786182 ATP9B AU NM_198531 exon28 c.304691+174G>A 0.278155 0.4881 Uncertain 18_77135472_A->G 18 77135472 77135472 A G snp 1182.77 1/1 87 37 0 37 1.0 intronic rs2280058 ATP9B AU NM_198531 exon29 c.306016+46A>G 0.28115 0.4921 0.211627 0.2842 0.5204 Uncertain 18_77137202_A->G 18 77137202 77137202 A G snp 3614.77 1/1 99 129 1 128 0.99 intronic rs1110784 ATP9B AU NM_198531 exon30 c.307836-44A>G 0.932308 0.999 0.884054 0.8980 0.9997 Uncertain 18_77156171_G->C 18 77156171 77156171 G C snp 773.77 1/1 57 28 0 28 1.0 UTR5 rs74183647 NFATC1 AU 0.232827 0.4355 Uncertain 18_77156449_G->C 18 77156449 77156449 G C snp 44.74 1/1 6 2 0 2 1.0 intronic rs58346397 NFATC1 AU NM_006162 exon1 c.127+98G>C 0.909145 0.999 Uncertain 18_77160601_C->A 18 77160601 77160601 C A snp 99.28 1/1 9 3 0 3 1.0 intronic rs62096871 NFATC1 AU NM_172389 exon1 c.88+122C>A 0.950679 0.999 Uncertain 18_77170006_C->T 18 77170006 77170006 C T snp 1934.77 1/1 99 73 0 73 1.0 intronic rs182507 NFATC1 AU NM_006162 exon2 c.14178-396C>T 0.73103 0.9355 Uncertain 18_77171061_T->G 18 77171061 77171061 T G snp 6326.77 1/1 99 227 1 226 1.0 exonic rs2230112 NFATC1 AU synonymous SNV NM_006162 exon2 c.T786G p.P262P 0.590655 0.8562 0.548815 0.6820 0.8468 Uncertain 18_77208922_C->T 18 77208922 77208922 C T snp 1839.77 0/1 99 192 105 87 0.45 exonic rs25657 NFATC1 AU synonymous SNV NM_006162 exon4 c.C1527T p.A509A 0.0820687 0.0863 0.071659 0.0717 0.0874 Uncertain 18_77209015_A->G 18 77209015 77209015 A G snp 1165.77 0/1 99 76 34 42 0.55 intronic rs2278801 NFATC1 AU NM_006162 exon4 c.52760+31A>G 0.451278 0.3839 0.467155 0.3740 0.4055 Uncertain 18_77210902_C->T 18 77210902 77210902 C T snp 1854.77 1/1 99 61 0 61 1.0 intronic rs680802 NFATC1 AU NM_006162 exon5 c.54729-51C>T 0.996006 1 0.995117 Uncertain 18_77211175_T->C 18 77211175 77211175 T C snp 529.77 0/1 99 24 8 16 0.67 intronic rs2290154 NFATC1 AU NM_006162 exon5 c.54902+49T>C 0.442891 0.4028 0.470312 0.3726 0.4031 Uncertain 18_77211195_G->T 18 77211195 77211195 G T snp 427.77 1/1 33 11 0 11 1.0 intronic rs160191 NFATC1 AU NM_006162 exon5 c.54902+69G>T 0.996406 1 Uncertain 18_77211764_T->C 18 77211764 77211764 T C snp 2836.77 0/1 99 249 123 126 0.51 exonic rs15350 NFATC1 AU synonymous SNV NM_006162 exon6 c.T1851C p.S617S 0.284545 0.3849 0.240274 0.1920 0.3853 Uncertain 18_77221207_C->A 18 77221207 77221207 C A snp 585.77 0/1 99 51 30 21 0.41 intronic rs2304738 NFATC1 AU NM_006162 exon7 c.65086-103C>A 0.276158 0.373 Uncertain 18_77221264_C->T 18 77221264 77221264 C T snp 1057.77 0/1 99 115 65 50 0.43 intronic rs2304739 NFATC1 AU NM_006162 exon7 c.65086-46C>T 0.275958 0.371 0.238659 0.1959 0.3742 Uncertain 18_77221278_G->A 18 77221278 77221278 G A snp 1138.77 0/1 99 124 71 53 0.43 intronic rs56112793 NFATC1 AU NM_006162 exon7 c.65086-32G>A 0.287939 0.371 0.252268 0.2010 0.3748 Uncertain 18_77227476_A->G 18 77227476 77227476 A G snp 1293.77 0/1 99 118 60 58 0.49 exonic rs25656 NFATC1 AU synonymous SNV NM_006162 exon8 c.A1986G p.P662P 0.404952 0.374 0.419114 0.3331 0.3832 Uncertain 18_77246978_G->A 18 77246978 77246978 G A snp 2361.77 0/1 99 173 74 99 0.57 intronic rs754096 NFATC1 AU NM_001278669 exon9 c.90713+41G>A 0.40595 0.4653 0.389482 0.4735 0.4702 Uncertain 18_77287385_T->C 18 77287385 77287385 T C snp 530.77 1/1 39 19 0 19 1.0 intronic rs451691 NFATC1 AU NM_006162 exon10 c.131303-142T>C 0.725639 0.9167 Uncertain 18_77401892_G->A 18 77401892 77401892 G A snp 119.77 0/1 99 7 3 4 0.57 intergenic rs59657947 NFATC1 AU 0.179912 0.248 Uncertain 18_77420703_C->G 18 77420703 77420703 C G snp 1574.77 1/1 99 58 0 58 1.0 intergenic rs868678 NFATC1 AU 0.73762 0.7153 0.7896 0.7424 0 D -0.898 T Uncertain 18_77439258_A->G 18 77439258 77439258 A G snp 285.77 0/1 99 18 8 10 0.56 upstream rs978579 CTDP1 AR 0.738219 0.7054 Uncertain 18_77439532_T->C 18 77439532 77439532 T C snp 1893.77 0/1 99 119 50 69 0.58 upstream rs3826573 CTDP1 AR 0.655351 0.5685 0.6863 0.6364 0 D -0.955 T Uncertain 18_77439844_G->T 18 77439844 77439844 G T snp 69.77 0/1 98 8 3 5 0.63 UTR5 rs56006341 CTDP1 AR 0.298123 0.3998 Uncertain 18_77440128_T->G 18 77440128 77440128 T G snp 365.77 0/1 99 33 14 19 0.58 exonic rs17855830 CTDP1 AR nonsynonymous SNV NM_004715 exon1 c.T181G p.S61A 0.655351 0.5685 0.6792 0.62 0.92 T 0.0 P -0.950 T 0.0 T 0.0 T Pathogenic 18_77455871_C->T 18 77455871 77455871 C T snp 1057.77 0/1 99 109 67 42 0.39 intronic rs558700 CTDP1 AR NM_004715 exon3 c.16029-105C>T 0.508586 0.5258 Uncertain 18_77456172_A->G 18 77456172 77456172 A G snp 117.78 0/1 27 5 1 4 0.8 intronic rs655609 CTDP1 AR NM_004715 exon3 c.16123+102A>G 0.744808 0.7173 Uncertain 18_77458037_T->C 18 77458037 77458037 T C snp 1918.77 0/1 99 165 83 82 0.5 intronic rs2242174 CTDP1 AR NM_004715 exon4 c.18041+49T>C 0.296925 0.3998 0.286143 0.3653 0.4339 Uncertain 18_77474626_C->T 18 77474626 77474626 C T snp 1491.77 0/1 99 89 33 56 0.63 exonic rs144647072 CTDP1 AR nonsynonymous SNV NM_004715 exon8 c.C1166T p.A389V 0.0127796 0.0228 0.001310 0.0163 0.0352 0.25 T 1 N -0.961 T 0.024 T 0.01 T Pathogenic 18_77475187_-->GGA 18 77475187 77475187 - GGA indel 4990.73 0/1 99 224 98 126 0.56 exonic rs35893234 CTDP1 AR nonframeshift insertion NM_004715 exon8 c.1727_1728insGGA p.M576delinsME 0.0597045 0.1736 0.0490 0.1913 Uncertain 18_77477822_T->C 18 77477822 77477822 T C snp 2980.77 0/1 99 250 121 129 0.52 exonic rs77320492 CTDP1 AR synonymous SNV NM_004715 exon10 c.T2223C p.P741P 0.0081869 0.0367 0.000461 0.0040 0.0367 Uncertain 18_77513495_C->T 18 77513495 77513495 C T snp 1074.77 0/1 99 80 40 40 0.5 intronic rs578051 CTDP1 AR NM_004715 exon13 c.73704-156C>T 0.195487 0.3631 Uncertain 18_77513721_T->C 18 77513721 77513721 T C snp 6321.77 1/1 99 220 0 220 1.0 exonic rs626169 CTDP1 AR synonymous SNV NM_004715 exon13 c.T2817C p.D939D 0.895168 1 0.896432 0.9666 0.9998 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000116845.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 18_77663940_G->A 18 77663940 77663940 G A snp 83.77 0/1 67 6 2 4 0.67 UTR3 rs3744881 PQLC1 AU 0.278155 0.2778 0.321818 0.3959 0.3489 Uncertain 18_77679503_G->A 18 77679503 77679503 G A snp 141.77 0/1 99 11 6 5 0.45 intronic rs12607405 PQLC1 AU NM_025078 exon2 c.15425+103G>A 0.614816 0.6954 Uncertain 18_77679519_G->A 18 77679519 77679519 G A snp 80.77 0/1 69 5 2 3 0.6 intronic rs12607407 PQLC1 AU NM_025078 exon2 c.15425+119G>A 0.351038 0.4544 Uncertain 18_77694129_A->- 18 77694129 77694129 A - indel 1259.73 1/1 85 81 4 77 0.95 intronic rs202000055 PQLC1 AU NM_025078 exon3 c.30047+107delA 0.6252 0.6508 Uncertain 18_77694168_T->G 18 77694168 77694168 T G snp 369.77 0/1 99 25 13 12 0.48 intronic rs2277725 PQLC1 AU NM_025078 exon3 c.30047+146T>G 0.389976 0.499 Uncertain 18_77724637_C->A 18 77724637 77724637 C A snp 70.77 0/1 99 13 9 4 0.31 UTR5 rs75395155 HSBP1L1 AU 0.177316 0.2679 Uncertain 18_77728045_C->T 18 77728045 77728045 C T snp 2058.77 1/1 99 74 0 74 1.0 intronic rs2298644 HSBP1L1 AU NM_001136180 exon3 c.3353-43C>T 0.564297 0.6508 0.592860 0.6222 0.6186 Uncertain 18_77728135_G->T 18 77728135 77728135 G T snp 3956.77 1/1 99 139 0 139 1.0 exonic rs2298645 HSBP1L1 AU nonsynonymous SNV NM_001136180 exon3 c.G165T p.K55N 0.798522 0.9167 0.768068 0.8227 0.8887 0.57 T 0.0 P -1.016 T 0.0 T 0.0 T Pathogenic 18_77730586_T->- 18 77730586 77730586 T - indel 493.73 1/1 39 13 0 13 1.0 UTR3 rs34938590 HSBP1L1 AU 0.789337 0.9167 Uncertain 18_77736735_T->C 18 77736735 77736735 T C snp 5561.77 1/1 99 211 1 210 1.0 intronic rs4799116 TXNL4A AR NM_006701 exon2 c.3913-862T>C 0.784545 0.9216 0.8400 0.885 Uncertain 18_77794810_G->A 18 77794810 77794810 G A snp 210.84 1/1 18 7 0 7 1.0 intronic rs12964779 RBFA AU NM_024805 exon1 c.158+157G>A 0.576478 0.752 Uncertain 18_77796574_C->T 18 77796574 77796574 C T snp 956.77 1/1 69 30 0 30 1.0 intronic rs12957601 RBFA AU NM_024805 exon2 c.2172-93C>T 0.579073 0.752 Uncertain 18_77797321_C->T 18 77797321 77797321 C T snp 312.78 1/1 24 11 0 11 1.0 intronic rs748337 RBFA AU NM_024805 exon3 c.2834-8C>T 0.783147 0.9216 0.737275 0.8123 0.9238 Uncertain 18_77798450_TGTC->- 18 77798450 77798453 TGTC - indel 718.73 0/1 99 29 16 13 0.45 intronic rs3833183 RBFA AU NM_024805 exon4 c.4009-54_4009-51delTGTC 0.151957 0.2718 Uncertain 18_77798461_C->A 18 77798461 77798461 C A snp 1147.77 1/1 84 34 0 34 1.0 intronic rs3744870 RBFA AU NM_024805 exon4 c.4009-43C>A 0.577276 0.752 0.408119 0.5377 0.7582 Uncertain 18_77802297_C->T 18 77802297 77802297 C T snp 59.74 1/1 6 3 0 3 1.0 intronic rs66538525 RBFA AU NM_024805 exon5 c.7724+78C>T 0.577276 0.752 Uncertain 18_77805715_G->A 18 77805715 77805715 G A snp 312.77 0/1 99 20 9 11 0.55 intronic rs3744871 RBFA AU NM_024805 exon7 c.11278-58G>A 0.188898 0.2708 Uncertain 18_77805856_A->C 18 77805856 77805856 A C snp 1164.77 0/1 99 113 62 51 0.45 exonic rs3744872 RBFA AU nonsynonymous SNV NM_024805 exon7 c.A733C p.N245H 0.389776 0.4821 0.272182 0.3714 0.4762 0.16 T 1.000 P -0.896 T 0.788 T 0.257 P Pathogenic 18_77894844_G->A 18 77894844 77894844 G A snp 2591.77 0/1 99 250 139 111 0.44 exonic rs3744877 ADNP2 AU synonymous SNV NM_014913 exon4 c.G1548A p.P516P 0.41873 0.5764 0.384130 0.4610 0.5584 Uncertain 18_77896242_C->T 18 77896242 77896242 C T snp 1981.77 0/1 99 172 92 80 0.47 exonic rs3826595 ADNP2 AU synonymous SNV NM_014913 exon4 c.C2946T p.D982D 0.29393 0.498 0.121329 0.2146 0.4567 Uncertain 18_77918221_C->T 18 77918221 77918221 C T snp 2526.77 0/1 99 222 122 100 0.45 exonic rs2280349 PARD6G AU synonymous SNV NM_032510 exon3 c.G564A p.E188E 0.247005 0.494 0.091091 0.1688 0.4626 Uncertain 18_77927028_A->G 18 77927028 77927028 A G snp 688.77 0/1 99 63 33 30 0.48 ncRNA_exonic rs1879105 PARD6G-AS1 AU 0.797923 0.6796 0.8446 0.6856 Uncertain 18_77927112_G->A 18 77927112 77927112 G A snp 105.77 0/1 99 11 7 4 0.36 ncRNA_exonic rs4239348 PARD6G-AS1 AU 0.80012 0.6796 Uncertain 19_282753_G->A 19 282753 282753 G A snp 949.77 0/1 99 93 45 48 0.52 exonic rs1138439 PPAP2C AU nonsynonymous SNV NM_003712 exon4 c.C539T p.A180V 0.364617 0.1181 0.443872 0.4121 0.1169 0.24 T 0.999 P -0.941 T 0.054 T 0.05 T Pathogenic 19_287970_-->T 19 287970 287970 - T indel 446.73 0/1 99 20 8 12 0.6 intronic rs370002930 PPAP2C AU NM_177543 exon5 c.6632-49insT 0.104832 0.0119 0.688529 0.6395 0.2406 Uncertain 19_290947_C->A 19 290947 290947 C A snp 238.77 0/1 99 21 10 11 0.52 splicing rs8111051 PPAP2C AU NM_177543 exon6 c.9564-4C>A 0.349441 0.2073 0.6135 0.5147 Pathogenic 19_312020_A->G 19 312020 312020 A G snp 1515.77 0/1 99 118 61 57 0.48 intronic rs8104600 MIER2 AU NM_017550 exon5 c.5250+81A>G 0.420327 0.6716 Uncertain 19_312143_T->C 19 312143 312143 T C snp 2955.77 1/1 99 92 0 92 1.0 intronic rs10416918 MIER2 AU NM_017550 exon6 c.5501-47T>C 0.993011 0.9683 0.9476 0.9539 Uncertain 19_325481_C->T 19 325481 325481 C T snp 373.77 0/1 99 21 9 12 0.57 intronic rs62103705 MIER2 AU NM_017550 exon8 c.18945-153C>T 0.285144 0.4554 Uncertain 19_326481_G->A 19 326481 326481 G A snp 1170.77 0/1 99 99 49 50 0.51 intronic rs4897949 MIER2 AU NM_017550 exon9 c.19817-25G>A 0.285144 0.4454 0.193987 0.2555 0.4550 Uncertain 19_327998_G->T 19 327998 327998 G T snp 1125.77 0/1 99 98 49 49 0.5 intronic rs2305113 MIER2 AU NM_017550 exon11 c.21300+9G>T 0.400759 0.6558 0.260341 0.2946 0.6558 Uncertain 19_335946_G->A 19 335946 335946 G A snp 481.77 0/1 99 39 22 17 0.44 intronic rs3816322 MIER2 AU NM_017550 exon13 c.29393-136G>A 0.51258 0.7034 Uncertain 19_367313_G->A 19 367313 367313 G A snp 895.77 0/1 99 56 21 35 0.63 intronic rs585487 THEG AU NM_016585 exon2 c.5025+89G>A 0.519968 0.4683 Uncertain 19_371369_G->T 19 371369 371369 G T snp 1359.77 0/1 99 113 59 54 0.48 intronic rs644609 THEG AU NM_016585 exon3 c.9123+47G>T 0.244808 0.2381 0.057598 0.2456 0.1776 Uncertain 19_371396_G->C 19 371396 371396 G C snp 2226.77 1/1 99 69 2 67 0.97 intronic rs644644 THEG AU NM_016585 exon3 c.9123+74G>C 0.830072 0.7817 Uncertain 19_372551_A->G 19 372551 372551 A G snp 1808.77 1/1 99 63 0 63 1.0 intronic rs652081 THEG AU NM_016585 exon4 c.10431-79A>G 0.939497 0.8452 Uncertain 19_372661_C->A 19 372661 372661 C A snp 1509.77 0/1 99 146 76 70 0.48 exonic rs2303810 THEG AU nonsynonymous SNV NM_199202 exon4 c.G533T p.R178I 0.1252 0.4623 0.041904 0.0781 0.4538 0.03 T 0.999 P -0.973 T 0.996 D 0.931 D Pathogenic 19_372867_T->C 19 372867 372867 T C snp 174.9 1/1 15 5 0 5 1.0 intronic rs671915 THEG AU NM_016585 exon4 c.10501+167T>C 0.944089 0.8472 Uncertain 19_373619_C->- 19 373619 373619 C - indel 739.73 0/1 99 38 17 21 0.55 intronic rs3214576 THEG AU NM_016585 exon5 c.11332+88delC 0.258986 0.5079 Uncertain 19_373673_G->A 19 373673 373673 G A snp 286.77 0/1 99 17 7 10 0.59 intronic rs2303814 THEG AU NM_016585 exon5 c.11332+142G>A 0.164736 0.0942 Uncertain 19_373897_G->C 19 373897 373897 G C snp 1121.77 0/1 99 113 66 47 0.42 intronic rs668447 THEG AU NM_016585 exon6 c.11740-42G>C 0.158546 0.1161 0.170486 0.1975 0.1328 Uncertain 19_374492_G->C 19 374492 374492 G C snp 2349.77 1/1 99 82 0 82 1.0 intronic rs10410345 THEG AU NM_016585 exon7 c.12222+71G>C 0.571685 0.7897 0.5123 0.7677 Uncertain 19_406991_G->C 19 406991 406991 G C snp 52.74 1/1 6 2 0 2 1.0 UTR3 rs12984921 C2CD4C AU 0.832867 0.8026 Uncertain 19_407900_A->G 19 407900 407900 A G snp 832.77 0/1 99 107 69 38 0.36 exonic rs10411998 C2CD4C AU synonymous SNV NM_001136263 exon2 c.T462C p.A154A 0.742812 0.6141 0.6565 0.6197 Uncertain 19_408497_G->A 19 408497 408497 G A snp 219.77 0/1 99 13 5 8 0.62 intronic rs74451437 C2CD4C AU NM_001136263 exon1 c.1306+96G>A 0.171925 0.2758 Uncertain 19_418786_G->A 19 418786 418786 G A snp 492.77 1/1 39 15 0 15 1.0 intronic rs1115033 SHC2 AU 0.241613 0.2262 Uncertain 19_419075_G->A 19 419075 419075 G A snp 337.77 0/1 99 32 16 16 0.5 intronic rs3764573 SHC2 AU NM_012435 exon2 c.129+19G>A 0.0838658 0.1825 0.008070 0.0803 0.2304 Uncertain 19_422481_G->A 19 422481 422481 G A snp 549.77 0/1 99 43 21 22 0.51 intronic rs2287959 SHC2 AU NM_012435 exon3 c.3529+25G>A 0.106629 0.2073 0.011326 0.0944 0.3295 Uncertain 19_422534_G->A 19 422534 422534 G A snp 99.77 0/1 99 10 5 5 0.5 intronic rs12984753 SHC2 AU NM_012435 exon3 c.3529+78G>A 0.46246 0.4385 Uncertain 19_422543_G->A 19 422543 422543 G A snp 263.8 1/1 21 8 0 8 1.0 intronic rs2287958 SHC2 AU NM_012435 exon3 c.3529+87G>A 0.673123 0.6508 Uncertain 19_422555_G->A 19 422555 422555 G A snp 182.9 1/1 15 5 0 5 1.0 intronic rs2287957 SHC2 AU NM_012435 exon3 c.3529+99G>A 0.674521 0.6538 Uncertain 19_434718_G->A 19 434718 434718 G A snp 2724.77 1/1 99 88 1 87 0.99 exonic rs61749991 SHC2 AU synonymous SNV NM_012435 exon8 c.C1101T p.A367A 0.0928514 0.1776 0.014989 0.0572 0.1970 ID=COSM3362896;OCCURENCE=1(kidney) Uncertain 19_434971_A->- 19 434971 434971 A - indel 2298.73 1/1 99 56 0 56 1.0 intronic rs66515471 SHC2 AU NM_012435 exon6 c.15938+106delA 0.0928514 0.1776 Uncertain 19_436690_C->T 19 436690 436690 C T snp 1292.77 0/1 99 109 52 57 0.52 intronic rs2066959 SHC2 AU NM_012435 exon9 c.17756+7C>T 0.101837 0.1835 0.019575 0.0667 0.2147 Uncertain 19_438911_C->T 19 438911 438911 C T snp 2177.77 0/1 99 208 112 96 0.46 intronic rs117033020 SHC2 AU NM_012435 exon11 c.20042-58C>T 0.142772 0.1151 0.126918 Uncertain 19_438915_C->T 19 438915 438915 C T snp 2167.77 0/1 99 208 108 100 0.48 intronic rs117388952 SHC2 AU NM_012435 exon11 c.20042-54C>T 0.103035 0.119 0.064007 Uncertain 19_460515_T->G 19 460515 460515 T G snp 37.77 0/1 33 9 5 4 0.44 intronic rs775248125 SHC2 AU NM_012435 exon13 c.41601-13T>G 0.0068 0 Uncertain 19_460668_C->G 19 460668 460668 C G snp 315.78 1/1 24 16 0 16 1.0 exonic rs189741717 SHC2 AU nonsynonymous SNV NM_012435 exon1 c.G329C p.G110A 0.7693 0.875 0.7 T 0.001 P -1.016 T 0.0 T 0.0 T Pathogenic 19_463811_C->- 19 463811 463811 C - indel 293.74 1/1 27 9 0 9 1.0 UTR3 rs398079668 ODF3L2 AU 0.890775 0.996 0.825215 0.8591 0.9921 Uncertain 19_464310_A->G 19 464310 464310 A G snp 655.77 0/1 99 54 28 26 0.48 exonic rs34551779 ODF3L2 AU nonsynonymous SNV NM_182577 exon4 c.T404C p.V135A 0.436901 0.6637 0.357901 0.4168 0.6693 0.56 T 0.0 P -0.945 T 0.009 T 0.012 T Pathogenic 19_472218_C->G 19 472218 472218 C G snp 257.77 0/1 99 14 6 8 0.57 intronic rs73503325 ODF3L2 AU NM_182577 exon3 c.8550-175C>G 0.156749 0.2173 Uncertain 19_474588_A->G 19 474588 474588 A G snp 1619.77 0/1 99 122 53 69 0.57 intronic rs12610594 ODF3L2 AU NM_182577 exon4 c.10777-32A>G 0.167133 0.2173 0.099062 0.0859 0.2028 Uncertain 19_474607_C->G 19 474607 474607 C G snp 1477.77 0/1 99 114 51 63 0.55 intronic rs12610013 ODF3L2 AU NM_182577 exon4 c.10777-13C>G 0.164337 0.2173 0.097985 0.0880 0.2057 Uncertain 19_496532_G->A 19 496532 496532 G A snp 1151.77 0/1 99 81 30 51 0.63 exonic rs78668504 MADCAM1 AU synonymous SNV NM_130760 exon1 c.G33A p.G11G 0.154553 0.1002 0.124111 0.1450 0.1222 Uncertain 19_496652_A->G 19 496652 496652 A G snp 31.77 0/1 60 8 4 4 0.5 intronic rs114840310 MADCAM1 AU NM_130762 exon1 c.52+101A>G 0.340855 0.4306 Uncertain 19_498212_A->C 19 498212 498212 A C snp 1404.77 1/1 99 50 0 50 1.0 intronic rs12461640 MADCAM1 AU NM_130762 exon2 c.1618+95A>C 1 1 Uncertain 19_498524_A->G 19 498524 498524 A G snp 2215.77 1/1 99 83 0 83 1.0 exonic rs2302217 MADCAM1 AU synonymous SNV NM_130760 exon3 c.A366G p.P122P 0.633586 0.753 0.563529 0.5284 0.7733 Uncertain 19_499426_ACAC->- 19 499426 499429 ACAC - indel 2877.73 0/1 99 145 63 82 0.57 intronic rs34283757 MADCAM1 AU NM_130762 exon3 c.2326+601_2326+604delACAC Uncertain 19_500215_C->A 19 500215 500215 C A snp 767.77 0/1 99 62 28 34 0.55 intronic rs74361302 MADCAM1 AU NM_130762 exon3 c.2326+1390C>A 0.109824 0.1062 Uncertain 19_501695_C->T 19 501695 501695 C T snp 34.77 0/1 63 11 7 4 0.36 exonic rs77685069 MADCAM1 AU nonsynonymous SNV NM_130760 exon4 c.C694T p.P232S 2.629e-05 0 0.55 T 1 N -1.008 T 0.437 T 0.131 T Pathogenic 19_501714_C->A 19 501714 501714 C A snp 271.77 0/1 99 20 10 10 0.5 exonic rs78071082 MADCAM1 AU nonsynonymous SNV NM_130760 exon4 c.C713A p.P238Q 4.583e-05 0 0.22 T 1 N -1.020 T 0.85 T 0.32 P Pathogenic 19_501719_T->C 19 501719 501719 T C snp 304.77 0/1 99 20 9 11 0.55 exonic rs62130832 MADCAM1 AU nonsynonymous SNV NM_130760 exon4 c.T718C p.S240P 0.3585 0.4167 0.34 T 0.0 P -0.923 T 0.0 T 0.0 T Pathogenic 19_501738_C->A 19 501738 501738 C A snp 523.77 0/1 99 32 10 22 0.69 exonic rs1063736 MADCAM1 AU nonsynonymous SNV NM_130760 exon4 c.C737A p.P246Q 0.0481 0.0781 0.14 T 0.0 P -0.947 T 0.042 T 0.038 T Pathogenic 19_501743_T->C 19 501743 501743 T C snp 648.78 0/1 24 34 6 28 0.82 exonic rs1140822 MADCAM1 AU nonsynonymous SNV NM_130760 exon4 c.T742C p.S248P 0.0610 0.1062 0.23 T 0.000 P -0.932 T 0.0 T 0.0 T Pathogenic 19_501786_C->A 19 501786 501786 C A snp 44.77 0/1 73 48 41 7 0.15 exonic rs77264553 MADCAM1 AU nonsynonymous SNV NM_130760 exon4 c.C785A p.P262Q 0.2660 0.3880 0.01 T 0.0 P -1.016 T 0.396 T 0.008 T Pathogenic 19_501900_C->A 19 501900 501900 C A snp 534.77 0/1 99 51 26 25 0.49 exonic rs3745925 MADCAM1 AU nonsynonymous SNV NM_130760 exon4 c.C899A p.P300H 0.217252 0.3224 0.201011 0.3232 0.4435 0.11 T 0.0 P -1.003 T 0.996 D 0.506 D Pathogenic 19_505071_T->C 19 505071 505071 T C snp 240.77 0/1 99 30 19 11 0.37 UTR3 rs1140823 MADCAM1 AU 0.632987 0.6855 Uncertain 19_507444_-->GG 19 507444 507444 - GG indel 906.73 0/1 99 47 18 29 0.62 upstream rs76411702 TPGS1 AU 0.0934505 0.2411 Uncertain 19_507450_G->T 19 507450 507450 G T snp 569.77 0/1 99 51 30 21 0.41 upstream rs7246920 TPGS1 AU 0.467053 0.3423 Uncertain 19_536068_G->A 19 536068 536068 G A snp 578.77 0/1 99 23 5 18 0.78 intronic rs4541184 CDC34 AU NM_004359 exon2 c.3992+145G>A Uncertain 19_536088_C->T 19 536088 536088 C T snp 1248.77 1/1 57 39 1 38 0.97 intronic rs4264506 CDC34 AU NM_004359 exon3 c.4311-154C>T 0.375399 0.6171 Uncertain 19_536437_A->G 19 536437 536437 A G snp 264.8 1/1 21 7 0 7 1.0 intronic rs2396295 CDC34 AU NM_004359 exon3 c.4409+97A>G 0.893171 1 Uncertain 19_536878_G->A 19 536878 536878 G A snp 169.9 1/1 15 5 0 5 1.0 intronic rs1108114 CDC34 AU NM_004359 exon4 c.5081-134G>A 0.367612 0.5893 Uncertain 19_536900_G->A 19 536900 536900 G A snp 618.77 1/1 48 17 0 17 1.0 intronic rs892204 CDC34 AU NM_004359 exon4 c.5081-112G>A 0.893371 1 Uncertain 19_541685_C->T 19 541685 541685 C T snp 201.84 1/1 18 7 0 7 1.0 UTR3 rs7150 CDC34 AU 0.367612 0.5893 Uncertain 19_544315_A->G 19 544315 544315 A G snp 309.77 0/1 99 40 26 14 0.35 intronic rs3760874 GZMM AU NM_005317 exon1 c.55+189A>G 0.598442 0.628 Uncertain 19_547224_A->G 19 547224 547224 A G snp 3338.77 1/1 99 126 0 126 1.0 intronic rs4919846 GZMM AU NM_005317 exon2 c.3208-55A>G 0.998602 1 Uncertain 19_547491_C->T 19 547491 547491 C T snp 110.77 0/1 99 16 9 7 0.44 intronic rs2070795 GZMM AU NM_001258351 exon2 c.95+55C>T 0.457069 0.5615 Uncertain 19_548865_C->T 19 548865 548865 C T snp 139.03 1/1 12 4 0 4 1.0 intronic rs12972174 GZMM AU NM_001258351 exon4 c.1580-56C>T Uncertain 19_549492_A->G 19 549492 549492 A G snp 94.28 1/1 9 3 0 3 1.0 intronic rs1599884 GZMM AU NM_001258351 exon5 c.2288-137A>G 0.969848 1 Uncertain 19_549595_T->C 19 549595 549595 T C snp 1476.77 1/1 99 49 0 49 1.0 intronic rs1599883 GZMM AU NM_001258351 exon5 c.2288-34T>C 0.94349 1 0.924746 0.9589 0.9999 Uncertain 19_549678_A->G 19 549678 549678 A G snp 3245.77 1/1 99 123 0 123 1.0 exonic rs1599882 GZMM AU nonsynonymous SNV NM_001258351 exon5 c.A544G p.R182G 0.997204 1 0.992849 0.9929 1 1 T 0.0 P -0.906 T 0.0 T 0.0 T Pathogenic 19_571770_C->T 19 571770 571770 C T snp 257.77 0/1 99 23 11 12 0.52 upstream rs55706133 BSG AU 0.00479233 0.0238 Uncertain 19_578239_C->T 19 578239 578239 C T snp 346.77 0/1 99 24 9 15 0.63 intronic rs2283571 BSG AU NM_001728 exon2 c.5487+118C>T 0.530751 0.5278 Uncertain 19_579010_G->A 19 579010 579010 G A snp 1054.77 0/1 99 74 33 41 0.55 intronic rs7253615 BSG AU NM_001728 exon3 c.6865-489G>A 0.710463 0.752 0.6573 0.7263 Uncertain 19_579432_G->C 19 579432 579432 G C snp 1473.77 0/1 99 150 88 62 0.41 intronic rs10416405 BSG AU NM_001728 exon3 c.6865-67G>C 0.0628994 0.0417 0.0558 0.0502 Uncertain 19_580154_A->G 19 580154 580154 A G snp 264.77 0/1 72 11 3 8 0.73 intronic rs2041192 BSG AU NM_198591 exon2 c.8831-224A>G 0.71266 0.752 Uncertain 19_580164_A->- 19 580164 580164 A - indel 329.73 0/1 99 17 7 10 0.59 intronic rs397859967 BSG AU NM_198591 exon2 c.8831-214delA 0.745607 0.752 Uncertain 19_580793_A->C 19 580793 580793 A C snp 1875.77 0/1 99 189 108 81 0.43 intronic rs10416339 BSG AU NM_198591 exon3 c.9235+11A>C 0.519369 0.5188 0.427385 0.3979 0.5032 Uncertain 19_580810_T->C 19 580810 580810 T C snp 1373.77 0/1 99 158 98 60 0.38 intronic rs10422916 BSG AU NM_198591 exon3 c.9235+28T>C 0.751597 0.753 0.603419 0.5581 0.7179 Uncertain 19_580822_T->G 19 580822 580822 T G snp 881.77 0/1 99 126 83 43 0.34 intronic rs10422922 BSG AU NM_198591 exon3 c.9235+40T>G 0.08127 0.0417 0.087030 0.0655 0.0462 Uncertain 19_582253_T->C 19 582253 582253 T C snp 1768.77 0/1 99 154 76 78 0.51 intronic rs4919862 BSG AU NM_198591 exon5 c.10758-52T>C 0.857029 0.7808 0.809263 Uncertain 19_582468_A->G 19 582468 582468 A G snp 936.77 0/1 99 90 47 43 0.48 intronic rs2074962 BSG AU NM_198591 exon6 c.10966-45A>G 0.716454 0.751 0.572778 0.5751 0.7345 Uncertain 19_582775_A->G 19 582775 582775 A G snp 737.77 0/1 99 48 19 29 0.6 UTR3 rs8637 BSG AU 0.756589 0.755 Uncertain 19_603460_T->C 19 603460 603460 T C snp 266.77 0/1 99 19 10 9 0.47 intronic rs11881654 HCN2 AU NM_001194 exon2 c.13598-83T>C 0.237819 0.2837 Uncertain 19_603625_T->C 19 603625 603625 T C snp 1027.77 0/1 99 129 82 47 0.36 exonic rs56342526 HCN2 AU synonymous SNV NM_001194 exon2 c.T714C p.D238D 0.236022 0.2837 0.146475 0.1624 0.2676 Uncertain 19_603634_T->C 19 603634 603634 T C snp 1386.77 0/1 99 141 85 56 0.4 exonic rs56131056 HCN2 AU synonymous SNV NM_001194 exon2 c.T723C p.T241T 0.239018 0.2877 0.148299 0.1631 0.2729 Uncertain 19_603769_T->C 19 603769 603769 T C snp 2183.77 0/1 99 229 130 99 0.43 exonic rs55659726 HCN2 AU synonymous SNV NM_001194 exon2 c.T858C p.Y286Y 0.238618 0.2897 0.155687 0.1671 0.2823 Uncertain 19_603826_C->T 19 603826 603826 C T snp 1802.77 0/1 99 175 98 77 0.44 exonic rs56170955 HCN2 AU synonymous SNV NM_001194 exon2 c.C915T p.F305F 0.236821 0.2897 0.155379 0.1663 0.2820 Uncertain 19_603832_C->T 19 603832 603832 C T snp 2269.77 0/1 99 167 71 96 0.57 exonic rs56180027 HCN2 AU synonymous SNV NM_001194 exon2 c.C921T p.I307I 0.0810703 0.0367 0.076947 0.1095 0.0449 Uncertain 19_603874_C->T 19 603874 603874 C T snp 1145.77 0/1 99 114 63 51 0.45 exonic rs55780677 HCN2 AU synonymous SNV NM_001194 exon2 c.C963T p.R321R 0.233027 0.2897 0.154119 0.1628 0.2816 Uncertain 19_605255_C->T 19 605255 605255 C T snp 232.84 1/1 18 10 0 10 1.0 intronic rs12977789 HCN2 AU NM_001194 exon3 c.15277+33C>T 0.532748 0.3472 0.483300 0.4253 0.3590 Uncertain 19_605316_C->G 19 605316 605316 C G snp 139.03 1/1 12 5 0 5 1.0 intronic rs116852794 HCN2 AU NM_001194 exon3 c.15277+94C>G 0.0690895 0.0397 Uncertain 19_613307_C->T 19 613307 613307 C T snp 1145.77 0/1 99 109 61 48 0.44 exonic rs2301778 HCN2 AU synonymous SNV NM_001194 exon6 c.C1644T p.A548A 0.285144 0.2659 0.287066 0.2910 0.2753 Uncertain 19_613507_CGCCTGGAGGGGGAGGGGGCA->- 19 613507 613527 CGCCTGGAGGGGGAGGGGGCA - indel 7837.73 0/1 99 111 53 58 0.52 intronic rs548550471 HCN2 AU NM_001194 exon6 c.23543+19_23543+39delCGCCTGGAGGGGGAGGGGGCA 0.0820687 0.0169 0.109648 0.1388 0.0259 Uncertain 19_613583_A->C 19 613583 613583 A C snp 71.77 0/1 99 10 6 4 0.4 intronic rs535731820 HCN2 AU NM_001194 exon6 c.23543+95A>C 0.26278 0.254 Uncertain 19_613828_C->- 19 613828 613828 C - indel 129.87 1/1 15 5 0 5 1.0 intronic rs397897595 HCN2 AU NM_001194 exon7 c.23906-23delC 0.239617 0.0248 0.3169 0.0352 Uncertain 19_613898_T->C 19 613898 613898 T C snp 978.77 1/1 72 36 0 36 1.0 exonic rs1054786 HCN2 AU synonymous SNV NM_001194 exon7 c.T1872C p.A624A 0.821685 0.8958 0.690773 0.6699 0.8940 Uncertain 19_616509_G->A 19 616509 616509 G A snp 169.78 0/1 27 12 2 10 0.83 UTR3 rs55810748 HCN2 AU 0.202676 0.2302 0.4375 . Uncertain 19_617195_C->T 19 617195 617195 C T snp 256.77 0/1 99 15 7 8 0.53 downstream rs11670098 HCN2 AU 0.228634 0.246 Uncertain 19_617205_T->C 19 617205 617205 T C snp 646.77 1/1 48 20 0 20 1.0 downstream rs2072122 HCN2 AU 0.653355 0.5804 0.583224 Uncertain 19_617379_G->A 19 617379 617379 G A snp 1205.77 0/1 99 87 35 52 0.6 intronic rs62132647 POLRMT AU NM_005035 exon2 c.145-39G>A 0.0447284 0.0179 0.069538 0.0695 0.0253 Uncertain 19_617528_-->G 19 617528 617528 - G indel 241.73 0/1 99 34 17 17 0.5 intronic rs55716325 POLRMT AU NM_005035 exon3 c.296-41insG 0.0495208 0.0486 0.0724 0.0547 Uncertain 19_617963_T->G 19 617963 617963 T G snp 357.77 0/1 99 38 23 15 0.39 intronic rs41546612 POLRMT AU NM_005035 exon4 c.576+114T>G 0.219848 0.255 Uncertain 19_619021_G->C 19 619021 619021 G C snp 738.77 1/1 54 24 0 24 1.0 exonic rs14155 POLRMT AU synonymous SNV NM_005035 exon15 c.C3243G p.P1081P 0.622404 0.5823 0.553033 0.5435 0.5953 Uncertain 19_619408_A->G 19 619408 619408 A G snp 77.77 0/1 99 7 4 3 0.43 intronic rs10853989 POLRMT AU NM_005035 exon8 c.2023+112A>G 0.370607 0.3313 Uncertain 19_619574_T->G 19 619574 619574 T G snp 1577.77 1/1 99 61 0 61 1.0 intronic rs10853990 POLRMT AU NM_005035 exon9 c.2312-11T>G 0.579273 0.5823 0.513081 0.5181 0.5897 Uncertain 19_619772_G->C 19 619772 619772 G C snp 654.77 1/1 48 23 0 23 1.0 intronic rs11669381 POLRMT AU NM_005035 exon9 c.2492+7G>C 0.578674 0.5823 0.510023 0.5074 0.5906 Uncertain 19_620243_C->T 19 620243 620243 C T snp 528.77 0/1 99 50 30 20 0.4 intronic rs766351002 POLRMT AU NM_005035 exon11 c.3091-121C>T Uncertain 19_620504_T->C 19 620504 620504 T C snp 667.77 0/1 99 59 29 30 0.51 intronic rs41549114 POLRMT AU NM_005035 exon11 c.3214+17T>C 0.0411342 0.0169 0.063412 0.1039 0.0352 Uncertain 19_621020_T->C 19 621020 621020 T C snp 294.78 1/1 24 9 0 9 1.0 intronic rs111437074 POLRMT AU NM_005035 exon12 c.3784-37T>C 0.682308 0.6637 0.612869 0.2200 0.1412 Uncertain 19_621063_A->G 19 621063 621063 A G snp 164.77 0/1 99 35 26 9 0.26 exonic rs76890343 POLRMT AU synonymous SNV NM_005035 exon10 c.T2635C p.L879L 0.221446 0.249 0.156896 0.1990 0.2476 Uncertain 19_621070_G->A 19 621070 621070 G A snp 202.77 0/1 99 36 26 10 0.28 exonic rs77809401 POLRMT AU synonymous SNV NM_005035 exon10 c.C2628T p.D876D 0.204872 0.25 0.162791 0.1941 0.2447 Uncertain 19_621712_A->G 19 621712 621712 A G snp 1291.77 1/1 93 41 0 41 1.0 exonic rs2238547 POLRMT AU synonymous SNV NM_005035 exon10 c.T1986C p.A662A 0.620008 0.5813 0.5494 0.6031 Uncertain 19_621925_G->A 19 621925 621925 G A snp 559.77 0/1 99 45 23 22 0.49 intronic rs144900221 POLRMT AU NM_005035 exon12 c.4573+79G>A 0.00299521 0.0129 Uncertain 19_622000_C->G 19 622000 622000 C G snp 266.8 1/1 21 9 0 9 1.0 intronic rs2238548 POLRMT AU NM_005035 exon13 c.4875-148C>G 0.617612 0.5823 Uncertain 19_622336_T->G 19 622336 622336 T G snp 976.77 1/1 69 38 0 38 1.0 exonic rs2238549 POLRMT AU nonsynonymous SNV NM_005035 exon9 c.A1664C p.E555A 0.620407 0.5804 0.451182 0.6119 0.5804 0.84 T 0.0 P -0.961 T 0.0 T 0.0 T Pathogenic 19_623065_C->- 19 623065 623065 C - indel 1353.73 0/1 99 96 51 45 0.47 intronic rs398048312 POLRMT AU NM_005035 exon15 c.5712+80delC 0.0666933 0.0169 Uncertain 19_623080_-->T 19 623080 623080 - T indel 1474.73 0/1 99 78 34 44 0.56 intronic rs398048311 POLRMT AU NM_005035 exon15 c.5712+95insT 0.201078 0.245 Uncertain 19_623670_G->A 19 623670 623670 G A snp 501.77 0/1 99 61 37 24 0.39 intronic rs41554313 POLRMT AU NM_005035 exon16 c.6330+67G>A 0.0838658 0.0169 Uncertain 19_623728_C->T 19 623728 623728 C T snp 194.77 0/1 99 26 16 10 0.38 intronic rs41542013 POLRMT AU NM_005035 exon16 c.6330+125C>T 0.0670927 0.0188 Uncertain 19_624683_A->G 19 624683 624683 A G snp 237.8 1/1 21 7 0 7 1.0 intronic rs2285853 POLRMT AU NM_005035 exon17 c.7445-35A>G 0.620607 0.5823 0.550669 0.5265 0.5900 Uncertain 19_625081_G->C 19 625081 625081 G C snp 96.28 1/1 9 3 0 3 1.0 intronic rs2285855 POLRMT AU NM_005035 exon18 c.7850-42G>C 0.620607 0.5823 0.546176 0.5222 0.5757 Uncertain 19_625198_A->G 19 625198 625198 A G snp 3977.77 1/1 99 148 0 148 1.0 exonic rs1056766 POLRMT AU synonymous SNV NM_005035 exon4 c.T879C p.T293T 0.602199 0.5476 0.5899 Uncertain 19_629438_G->C 19 629438 629438 G C snp 39.77 0/1 68 4 2 2 0.5 intronic rs2283576 POLRMT AU NM_005035 exon19 c.12266-101G>C 0.207468 0.2391 Uncertain 19_629503_G->A 19 629503 629503 G A snp 76.77 0/1 99 13 9 4 0.31 intronic rs2283577 POLRMT AU NM_005035 exon19 c.12266-36G>A 0.207668 0.2391 0.170515 0.1931 0.2435 Uncertain 19_633013_G->A 19 633013 633013 G A snp 450.77 0/1 99 44 24 20 0.45 intronic rs56090114 POLRMT AU NM_005035 exon20 c.15665+75G>A 0.146166 0.2887 Uncertain 19_633381_A->G 19 633381 633381 A G snp 3057.77 1/1 99 112 0 112 1.0 intronic rs11669858 POLRMT AU NM_005035 exon21 c.16151-43A>G 0.653155 0.6052 0.583697 0.6600 0.6880 Uncertain 19_633529_-->GCGCCGCCGCCGCCGCCGCC 19 633529 633529 - GCGCCGCCGCCGCCGCCGCC indel 9764.73 ./1 99 54 0 54 1.0 UTR5 rs144095976 POLRMT AU 0.229433 0.0496 0.035752 0.2104 0.0451 Uncertain 19_633529_-->GCGCCGCCGCCGCCGCCGCCGCC 19 633529 633529 - GCGCCGCCGCCGCCGCCGCCGCC indel 9764.73 ./1 99 54 0 54 1.0 UTR5 rs144095976 POLRMT AU 0.0894569 0.1062 0.028181 0.0373 0.075 Uncertain 19_633618_C->A 19 633618 633618 C A snp 65.77 0/1 94 10 6 4 0.4 upstream rs9304925 POLRMT AU 0.27496 0.3462 Uncertain 19_641215_T->C 19 641215 641215 T C snp 670.77 0/1 99 71 39 32 0.45 intronic rs7246140 FGF22 AU NM_020637 exon1 c.214+1076T>C 0.411941 0.6181 0.4183 0.5859 0.12 T 0.0 P -0.953 T Uncertain 19_643093_C->T 19 643093 643093 C T snp 365.77 1/1 30 10 0 10 1.0 intronic rs62134262 FGF22 AU NM_020637 exon2 c.3309-141C>T Uncertain 19_643103_G->A 19 643103 643103 G A snp 425.77 1/1 33 11 0 11 1.0 intronic rs4919818 FGF22 AU NM_020637 exon2 c.3309-131G>A 0.471645 0.502 Uncertain 19_643104_G->T 19 643104 643104 G T snp 433.77 1/1 33 11 0 11 1.0 intronic rs4919819 FGF22 AU NM_020637 exon2 c.3309-130G>T 0.471645 0.502 Uncertain 19_646638_C->T 19 646638 646638 C T snp 70.77 0/1 33 6 2 4 0.67 downstream RNF126 AU Uncertain 19_646891_G->A 19 646891 646891 G A snp 4311.77 1/1 99 163 0 163 1.0 downstream rs10403235 RNF126 AU 0.421326 0.5933 0.354910 Uncertain 19_647039_T->C 19 647039 647039 T C snp 1515.77 1/1 99 49 0 49 1.0 downstream rs2074460 RNF126 AU 0.895168 0.9613 0.865966 Uncertain 19_648185_C->G 19 648185 648185 C G snp 1807.77 0/1 99 170 86 84 0.49 exonic rs143060769 RNF126 AU synonymous SNV NM_194460 exon9 c.G879C p.S293S 0.000399361 0.000308 0.0005 0.0028 Uncertain 19_649110_G->C 19 649110 649110 G C snp 50.74 1/1 6 2 0 2 1.0 intronic rs2040736 RNF126 AU NM_194460 exon3 c.848+135G>C 0.900759 0.998 Uncertain 19_651587_C->T 19 651587 651587 C T snp 176.77 0/1 99 16 9 7 0.44 intronic rs117074311 RNF126 AU NM_194460 exon6 c.3483-23C>T 0.0738818 0.2073 0.001878 0.0691 0.2473 Uncertain 19_652206_G->A 19 652206 652206 G A snp 2029.77 1/1 99 72 0 72 1.0 intronic rs8102953 RNF126 AU NM_194460 exon7 c.4105-26G>A 0.986222 0.999 0.972777 0.9774 1 Uncertain 19_652739_C->G 19 652739 652739 C G snp 2508.77 1/1 99 78 0 78 1.0 intronic rs12973146 RNF126 AU NM_194460 exon8 c.4698-86C>G 0.669728 0.5595 Uncertain 19_652948_T->G 19 652948 652948 T G snp 3504.77 1/1 99 124 0 124 1.0 intronic rs10153505 RNF126 AU NM_194460 exon8 c.4757+64T>G 0.94349 0.998 0.883655 Uncertain 19_676559_G->A 19 676559 676559 G A snp 483.77 1/1 39 16 0 16 1.0 intronic rs62134281 FSTL3 AU NM_005860 exon1 c.103+33G>A 0.301118 0.2321 0.5375 0.1667 Uncertain 19_680378_C->T 19 680378 680378 C T snp 1122.77 1/1 81 43 0 43 1.0 exonic rs7246311 FSTL3 AU synonymous SNV NM_005860 exon3 c.C394T p.L132L 0.348842 0.248 0.5719 0.25 Uncertain 19_685985_G->C 19 685985 685985 G C snp 1190.77 1/1 87 39 0 39 1.0 intronic rs62131270 PRSS57 AU NM_214710 exon1 c.207+63G>C 0.330871 0.2421 Uncertain 19_687142_G->A 19 687142 687142 G A snp 2392.77 1/1 99 85 0 85 1.0 exonic rs8102982 PRSS57 AU nonsynonymous SNV NM_214710 exon4 c.C428T p.P143L 0.997204 1 0.993763 0.9960 1 1 T 0.005 P -0.918 T 0.002 T 0.0 T Pathogenic 19_691909_T->C 19 691909 691909 T C snp 2861.77 1/1 99 110 0 110 1.0 exonic rs4375794 PRSS57 AU synonymous SNV NM_214710 exon3 c.A330G p.T110T 0.677716 0.6329 0.754267 0.7338 0.6480 Uncertain 19_725939_C->T 19 725939 725939 C T snp 365.77 0/1 99 25 12 13 0.52 intronic rs3787017 PALM AU NM_002579 exon2 c.16991-198C>T 0.520767 0.4554 Uncertain 19_727105_G->A 19 727105 727105 G A snp 937.77 0/1 99 70 34 36 0.51 intronic rs113692988 PALM AU NM_002579 exon3 c.17942+17G>A 0.158347 0.0615 0.141003 0.1722 0.0932 Uncertain 19_727226_G->A 19 727226 727226 G A snp 562.77 0/1 57 28 4 24 0.86 intronic rs113794178 PALM AU NM_002579 exon3 c.17942+138G>A Uncertain 19_727249_C->T 19 727249 727249 C T snp 105.77 0/1 99 13 6 7 0.54 intronic rs117660285 PALM AU NM_002579 exon3 c.17942+161C>T Uncertain 19_727255_T->C 19 727255 727255 T C snp 113.77 0/1 99 10 6 4 0.4 intronic rs375523149 PALM AU NM_002579 exon3 c.17942+167T>C Uncertain 19_727310_C->A 19 727310 727310 C A snp 54.74 1/1 6 2 0 2 1.0 intronic rs35790456 PALM AU NM_002579 exon3 c.17942+222C>A 0.69349 0.7202 Uncertain 19_727401_C->G 19 727401 727401 C G snp 943.77 0/1 99 49 17 32 0.65 intronic rs77432625 PALM AU NM_002579 exon4 c.18417-162C>G 0.0539137 0.0764 Uncertain 19_731055_G->C 19 731055 731055 G C snp 652.77 0/1 99 50 26 24 0.48 intronic rs10405821 PALM AU NM_002579 exon5 c.21948-39G>C 0.518171 0.5446 0.477908 0.3842 0.4296 Uncertain 19_731077_G->C 19 731077 731077 G C snp 736.77 0/1 99 59 31 28 0.47 intronic rs10405836 PALM AU NM_002579 exon5 c.21948-17G>C 0.518171 0.5446 0.466847 0.4323 0.4753 Uncertain 19_731078_G->T 19 731078 731078 G T snp 665.77 0/1 99 60 31 29 0.48 intronic rs2074355 PALM AU NM_002579 exon5 c.21948-16G>T 0.518171 0.5446 0.466076 0.4334 0.4761 Uncertain 19_731144_A->G 19 731144 731144 A G snp 1055.77 0/1 99 83 35 48 0.58 exonic rs1050457 PALM AU nonsynonymous SNV NM_001040134 exon5 c.A319G p.T107A 0.546326 0.5446 0.526044 0.4753 0.5164 1 T 0.0 P -0.957 T 0.001 T 0.009 T Pathogenic 19_731384_G->A 19 731384 731384 G A snp 50.74 1/1 6 2 0 2 1.0 intronic rs11670501 PALM AU NM_002579 exon5 c.22099+139G>A 0.5 0.5456 Uncertain 19_734077_C->G 19 734077 734077 C G snp 1678.77 0/1 99 138 72 66 0.48 intronic rs147537473 PALM AU NM_002579 exon6 c.25026-95C>G 0.0397364 0.0764 Uncertain 19_736116_C->T 19 736116 736116 C T snp 1491.77 0/1 99 104 46 58 0.56 intronic rs201178484 PALM AU NM_002579 exon7 c.26932+38C>T 0.000199681 0.001 4.229e-05 0 Uncertain 19_740272_C->T 19 740272 740272 C T snp 1075.77 0/1 99 94 51 43 0.46 intronic rs7245884 PALM AU NM_002579 exon8 c.31205-79C>T 0.205072 0.1806 Uncertain 19_740312_G->A 19 740312 740312 G A snp 1917.77 0/1 99 181 93 88 0.49 intronic rs142889233 PALM AU NM_002579 exon8 c.31205-39G>A 0.0159744 0.0546 0.000160 0.0074 0.0651 Uncertain 19_740560_T->C 19 740560 740560 T C snp 1484.77 1/1 99 43 0 43 1.0 intronic rs10419493 PALM AU NM_002579 exon8 c.31337+77T>C 0.967652 0.997 Uncertain 19_740582_A->- 19 740582 740582 A - indel 361.73 0/1 99 21 10 11 0.52 intronic rs139099272 PALM AU NM_002579 exon8 c.31337+99delA 0.0934505 0.3363 Uncertain 19_746206_C->T 19 746206 746206 C T snp 141.77 0/1 99 30 21 9 0.3 intronic rs2384776 PALM AU NM_002579 exon9 c.37138-78C>T 0.271965 0.1964 Uncertain 19_746409_G->A 19 746409 746409 G A snp 1374.77 0/1 99 98 47 51 0.52 exonic rs2238567 PALM AU synonymous SNV NM_001040134 exon8 c.G627A p.A209A 0.0952476 0.3323 0.010018 0.0492 0.3288 Uncertain 19_756985_T->G 19 756985 756985 T G snp 1511.77 0/1 99 156 86 70 0.45 exonic rs8110536 MISP AU synonymous SNV NM_173481 exon2 c.T39G p.P13P 0.1877 0.3552 0.135042 0.2533 0.4403 Uncertain 19_757399_A->C 19 757399 757399 A C snp 1399.77 0/1 99 125 64 61 0.49 exonic rs3746172 MISP AU synonymous SNV NM_173481 exon2 c.A453C p.A151A 0.243411 0.3542 0.162481 0.1650 0.3746 Uncertain 19_757412_A->G 19 757412 757412 A G snp 1425.77 0/1 99 120 56 64 0.53 exonic rs3746173 MISP AU nonsynonymous SNV NM_173481 exon2 c.A466G p.S156G 0.248003 0.3542 0.176022 0.1762 0.3698 0.68 T 0.0 P -0.951 T 0.0 T 0.0 T Pathogenic 19_757606_T->C 19 757606 757606 T C snp 1408.77 0/1 99 138 76 62 0.45 exonic rs3746174 MISP AU synonymous SNV NM_173481 exon2 c.T660C p.P220P 0.201278 0.376 0.099198 0.0891 0.3935 Uncertain 19_799568_T->C 19 799568 799568 T C snp 540.77 0/1 99 32 13 19 0.59 intronic rs142107622 PTBP1 AU NM_031991 exon2 c.1946+125T>C 0.000599042 0.002 Uncertain 19_804456_G->A 19 804456 804456 G A snp 488.77 0/1 99 67 45 22 0.33 intronic rs351980 PTBP1 AU NM_031991 exon5 c.6941+18G>A 0.21246 0.2401 0.166564 0.1380 0.2307 Uncertain 19_806256_A->G 19 806256 806256 A G snp 40.77 0/1 33 3 1 2 0.67 intronic rs351978 PTBP1 AU NM_031991 exon9 c.8910-151A>G 0.67492 0.4276 Uncertain 19_815086_A->G 19 815086 815086 A G snp 2319.77 0/1 99 171 72 99 0.58 splicing rs351988 LPPR3 AU NM_024888 exon3 c.2512+5A>G 0.671126 0.4494 0.678115 0.6045 0.4367 0.000 P Pathogenic 19_827975_T->C 19 827975 827975 T C snp 78.77 0/1 99 25 18 7 0.28 intronic rs649411 AZU1 AU NM_001700 exon1 c.58+71T>C 0.632188 0.4901 0.575418 Uncertain 19_829568_C->T 19 829568 829568 C T snp 2065.77 0/1 99 173 85 88 0.51 exonic rs12460890 AZU1 AU synonymous SNV NM_001700 exon3 c.C222T p.P74P 0.330272 0.4702 0.260572 0.3203 0.4493 Uncertain 19_829723_A->G 19 829723 829723 A G snp 2361.77 0/1 99 226 121 105 0.46 intronic rs678976 AZU1 AU NM_001700 exon3 c.1860+17A>G 0.63139 0.4851 0.577733 0.5290 0.4607 Uncertain 19_829824_C->T 19 829824 829824 C T snp 560.77 0/1 99 25 8 17 0.68 intronic rs6510980 AZU1 AU NM_001700 exon3 c.1860+118C>T 0.252596 0.4216 Uncertain 19_830621_A->C 19 830621 830621 A C snp 696.77 0/1 99 61 34 27 0.44 intronic rs653847 AZU1 AU NM_001700 exon4 c.2861-86A>C 0.60643 0.4841 Uncertain 19_830854_T->C 19 830854 830854 T C snp 3791.77 0/1 99 250 120 130 0.52 exonic rs595844 AZU1 AU synonymous SNV NM_001700 exon4 c.T507C p.F169F 0.666933 0.495 0.650777 0.5828 0.4677 Uncertain 19_840839_T->C 19 840839 840839 T C snp 167.9 1/1 15 5 0 5 1.0 upstream rs2074638 PRTN3 AU 0.691094 0.5486 Uncertain 19_840984_C->T 19 840984 840984 C T snp 2336.77 1/1 99 86 0 86 1.0 upstream rs2074639 PRTN3 AU 0.182109 0.2688 0.172332 0.2293 0.2830 Uncertain 19_844020_G->A 19 844020 844020 G A snp 3440.77 1/1 99 137 0 137 1.0 exonic rs351111 PRTN3 AU nonsynonymous SNV NM_002777 exon3 c.G355A p.V119I 0.44389 0.3512 0.450000 0.5121 0.4244 1 T 0.0 P -0.994 T 0.278 T 0.086 T Pathogenic 19_844077_A->C 19 844077 844077 A C snp 2344.77 1/1 99 87 0 87 1.0 intronic rs351112 PRTN3 AU NM_002777 exon3 c.3026+43A>C 0.627596 0.5635 0.543640 0.6477 0.6525 Uncertain 19_847674_G->A 19 847674 847674 G A snp 251.8 1/1 21 7 0 7 1.0 intronic rs71335273 PRTN3 AU NM_002777 exon5 c.6790-124G>A 0.36901 0.5675 Uncertain 19_862024_C->G 19 862024 862024 C G snp 271.77 0/1 99 24 12 12 0.5 intronic rs1683561 CFD AR NM_001928 exon4 c.2267+68C>G 0.504593 0.4286 Uncertain 19_863356_C->T 19 863356 863356 C T snp 2516.77 0/1 99 152 56 96 0.63 UTR3 rs10506 CFD AR 0.275359 0.5417 Uncertain 19_871447_A->G 19 871447 871447 A G snp 444.77 0/1 99 49 29 20 0.41 intronic rs1683570 MED16 AU NM_005481 exon4 c.3153+194A>G 0.680911 0.624 Uncertain 19_872255_G->A 19 872255 872255 G A snp 78.77 0/1 69 5 2 3 0.6 intronic rs891206 MED16 AU NM_005481 exon5 c.4018+137G>A 0.441693 0.5873 Uncertain 19_876911_G->A 19 876911 876911 G A snp 172.77 0/1 99 12 6 6 0.5 intronic rs10414386 MED16 AU NM_005481 exon8 c.8873-62G>A Uncertain 19_876929_A->- 19 876929 876929 A - indel 332.73 0/1 99 22 11 11 0.5 intronic rs372224598 MED16 AU NM_005481 exon8 c.8873-44delA 0.194289 0.3403 0.086750 0.0004 0.0003 Uncertain 19_876933_C->G 19 876933 876933 C G snp 308.77 0/1 99 24 11 13 0.54 intronic MED16 AU NM_005481 exon8 c.8873-40C>G 0.0004 0.0004 Uncertain 19_880066_G->A 19 880066 880066 G A snp 1444.77 0/1 99 155 83 72 0.46 exonic rs34799086 MED16 AU synonymous SNV NM_005481 exon8 c.C1224T p.S408S 0.277556 0.5863 0.135150 0.2190 0.6023 Uncertain 19_884782_C->G 19 884782 884782 C G snp 926.77 0/1 99 80 38 42 0.53 intronic rs2965294 MED16 AU NM_005481 exon11 c.16802-120C>G 0.555911 0.6062 Uncertain 19_885118_T->C 19 885118 885118 T C snp 216.77 0/1 99 16 9 7 0.44 intronic rs73492577 MED16 AU NM_005481 exon11 c.16908+110T>C 0.28754 0.6071 Uncertain 19_885706_G->C 19 885706 885706 G C snp 520.77 0/1 99 48 26 22 0.46 intronic rs7253460 MED16 AU NM_005481 exon12 c.17669-63G>C 0.279752 0.5903 Uncertain 19_885818_A->G 19 885818 885818 A G snp 1989.77 0/1 99 197 110 87 0.44 exonic rs1060442 MED16 AU synonymous SNV NM_005481 exon5 c.T831C p.F277F 0.621206 0.6667 0.618253 0.6015 0.6727 Uncertain 19_886106_C->T 19 886106 886106 C T snp 2195.77 0/1 99 180 86 94 0.52 exonic rs745687807 MED16 AU synonymous SNV NM_005481 exon5 c.G543A p.A181A 9.921e-06 0 Uncertain 19_899978_G->A 19 899978 899978 G A snp 667.77 0/1 99 56 30 26 0.46 intronic rs2306718 R3HDM4 AU NM_138774 exon4 c.2624-82G>A 0.2502 0.2688 Uncertain 19_901856_C->T 19 901856 901856 C T snp 1019.77 0/1 99 100 54 46 0.46 intronic rs150267626 R3HDM4 AU NM_138774 exon7 c.4539-119C>T 0.0165735 0.0734 Uncertain 19_913048_G->C 19 913048 913048 G C snp 322.78 1/1 24 13 0 13 1.0 intronic rs1683587 R3HDM4 AU NM_138774 exon8 c.15650-38G>C 0.576478 0.4762 0.5 . Uncertain 19_913051_C->G 19 913051 913051 C G snp 322.78 1/1 24 13 0 13 1.0 intronic rs1623302 R3HDM4 AU NM_138774 exon8 c.15650-35C>G 0 . Uncertain 19_917380_C->T 19 917380 917380 C T snp 101.28 1/1 9 4 0 4 1.0 UTR5 rs3810423 KISS1R AR,AD 0.0497204 0.0585 Uncertain 19_917526_A->G 19 917526 917526 A G snp 806.77 0/1 99 57 26 31 0.54 exonic rs10407968 KISS1R AR,AD synonymous SNV NM_032551 exon1 c.A24G p.G8G 0.186302 0.1339 0.121228 0.2591 0.125 Uncertain 19_917874_C->T 19 917874 917874 C T snp 211.77 0/1 99 15 8 7 0.47 intronic rs350129 KISS1R AR,AD NM_032551 exon1 c.244+128C>T 0.564297 0.6151 Uncertain 19_920170_G->T 19 920170 920170 G T snp 274.77 0/1 99 17 6 11 0.65 intronic rs350131 KISS1R AR,AD NM_032551 exon4 c.2604+64G>T 0.526158 0.6141 Uncertain 19_920252_C->A 19 920252 920252 C A snp 129.77 0/1 99 15 10 5 0.33 intronic rs73507529 KISS1R AR,AD NM_032551 exon5 c.2787-37C>A 0.100439 0.0585 0.060687 0.0408 0.0994 Uncertain 19_920642_T->A 19 920642 920642 T A snp 2273.77 1/1 99 77 0 77 1.0 exonic rs350132 KISS1R AR,AD nonsynonymous SNV NM_032551 exon5 c.T1091A p.L364H 0.783946 0.7589 0.7827 0.8788 0.6 T 0.0 P -0.992 T 0.0 T 0.0 T Pathogenic 19_920868_C->G 19 920868 920868 C G snp 173.77 0/1 99 19 13 6 0.32 UTR3 rs3746146 KISS1R AR,AD 0.0129792 0.0585 Uncertain 19_929678_G->A 19 929678 929678 G A snp 955.77 1/1 69 38 0 38 1.0 exonic rs3826948 ARID3A AU synonymous SNV NM_005224 exon2 c.G150A p.E50E 0.460863 0.6756 0.423504 0.6249 0.6897 Uncertain 19_929753_A->G 19 929753 929753 A G snp 1315.77 1/1 93 50 0 50 1.0 exonic rs1799595 ARID3A AU synonymous SNV NM_005224 exon2 c.A225G p.P75P 0.884185 0.998 0.875131 0.8572 0.9996 Uncertain 19_960187_G->C 19 960187 960187 G C snp 3023.77 1/1 99 104 0 104 1.0 intronic rs1637993 ARID3A AU NM_005224 exon4 c.30636+23G>C 0.932508 0.9891 0.946025 0.9529 0.9853 Uncertain 19_960297_G->A 19 960297 960297 G A snp 324.77 0/1 99 16 6 10 0.63 intronic rs59831715 ARID3A AU NM_005224 exon4 c.30636+133G>A 0.000998403 0.005 Uncertain 19_965043_T->C 19 965043 965043 T C snp 1961.77 1/1 99 67 0 67 1.0 exonic rs12608658 ARID3A AU synonymous SNV NM_005224 exon6 c.T1161C p.N387N 0.938898 1 0.948332 0.9575 0.9999 Uncertain 19_993883_C->T 19 993883 993883 C T snp 153.77 0/1 99 10 5 5 0.5 intronic rs574451808 WDR18 AU NM_024100 exon9 c.9665-135C>T 0.000399361 0.001 Uncertain 19_1003172_C->T 19 1003172 1003172 C T snp 1415.77 1/1 99 48 0 48 1.0 exonic rs2240154 GRIN3B AU nonsynonymous SNV NM_138690 exon2 c.C470T p.T157M 0.180511 0.4415 0.101240 0.2698 0.5123 0.02 T 0.002 P -0.903 T 1.0 D 0.925 D Pathogenic 19_1011215_G->A 19 1011215 1011215 G A snp 4311.77 1/1 99 158 1 157 0.99 intronic rs2240160 TMEM259 AU NM_001033026 exon2 c.846+21G>A 0.275759 0.4663 0.209850 0.3072 0.5515 Uncertain 19_1011823_A->G 19 1011823 1011823 A G snp 2402.77 0/1 99 200 105 95 0.47 intronic rs2240161 TMEM259 AU NM_033420 exon4 c.913+26A>G 0.674321 0.5308 0.715322 0.7045 0.6065 Uncertain 19_1031212_A->G 19 1031212 1031212 A G snp 2724.77 1/1 99 106 0 106 1.0 intronic rs7247087 CNN2 AU NM_004368 exon2 c.4531+21A>G 0.812899 0.8938 0.775146 0.8042 0.8861 Uncertain 19_1031329_G->A 19 1031329 1031329 G A snp 343.78 1/1 27 10 0 10 1.0 intronic rs56707950 CNN2 AU NM_004368 exon2 c.4531+138G>A 0.373602 0.3591 Uncertain 19_1031340_C->G 19 1031340 1031340 C G snp 96.28 1/1 9 3 0 3 1.0 intronic rs12978059 CNN2 AU NM_004368 exon2 c.4531+149C>G Uncertain 19_1032369_C->T 19 1032369 1032369 C T snp 731.77 1/1 54 26 0 26 1.0 intronic rs10401325 CNN2 AU NM_004368 exon3 c.5730-21C>T 0.770966 0.8948 0.745887 0.8256 0.8917 Uncertain 19_1036552_T->C 19 1036552 1036552 T C snp 4761.77 1/1 99 175 0 175 1.0 exonic rs2304262 CNN2 AU synonymous SNV NM_004368 exon6 c.T645C p.C215C 0.832069 0.8393 0.836768 0.8521 0.8401 Uncertain 19_1037640_C->T 19 1037640 1037640 C T snp 31.77 0/1 60 9 7 2 0.22 exonic rs200303627 CNN2 AU nonsynonymous SNV NM_004368 exon7 c.C671T p.P224L 0.0010 0 0.11 T 1 D -0.924 T 0.709 T 0.521 P Pathogenic 19_1037670_A->G 19 1037670 1037670 A G snp 92.77 0/1 99 24 18 6 0.25 exonic rs199840457 CNN2 AU nonsynonymous SNV NM_004368 exon7 c.A701G p.K234R 0.0004 0 0.13 T 0.994 D -0.856 T 1.0 D 0.987 D ID=COSM1599995;OCCURENCE=1(central_nervous_system) Pathogenic 19_1037679_C->T 19 1037679 1037679 C T snp 93.77 0/1 99 27 20 7 0.26 exonic rs200505828 CNN2 AU nonsynonymous SNV NM_004368 exon7 c.C710T p.T237I 0.0003 0 0.27 T 0.985 D -1.076 T 0.38 T 0.091 T Pathogenic 19_1037681_G->A 19 1037681 1037681 G A snp 90.77 0/1 99 28 21 7 0.25 exonic rs200699249 CNN2 AU nonsynonymous SNV NM_004368 exon7 c.G712A p.D238N 0.0004 0 0.03 T 0.502 D -1.028 T 0.163 T 0.022 T Pathogenic 19_1037715_T->C 19 1037715 1037715 T C snp 81.77 0/1 99 33 26 7 0.21 exonic rs200177867 CNN2 AU nonsynonymous SNV NM_004368 exon7 c.T746C p.M249T 6.856e-05 0 0 D 0.999 D -0.200 T 0.986 D 0.899 D Pathogenic 19_1037716_G->A 19 1037716 1037716 G A snp 81.77 0/1 99 33 26 7 0.21 exonic rs201532581 CNN2 AU nonsynonymous SNV NM_004368 exon7 c.G747A p.M249I 6.856e-05 0 0 D 1.000 D 0.103 D 0.993 D 0.938 D Pathogenic 19_1037718_G->T 19 1037718 1037718 G T snp 76.77 0/1 99 34 27 7 0.21 exonic rs199741851 CNN2 AU nonsynonymous SNV NM_004368 exon7 c.G749T p.G250V 6.855e-05 0 0 D 1 D 1.073 D 1.0 D 0.989 D Pathogenic 19_1037731_C->T 19 1037731 1037731 C T snp 81.77 0/1 99 36 29 7 0.19 exonic rs75808449 CNN2 AU synonymous SNV NM_004368 exon7 c.C762T p.G254G 0.000199681 7.713e-05 0 Uncertain 19_1037749_G->A 19 1037749 1037749 G A snp 109.77 0/1 99 40 32 8 0.2 exonic rs77454210 CNN2 AU synonymous SNV NM_004368 exon7 c.G780A p.Q260Q 0.0001 0 Uncertain 19_1037756_G->A 19 1037756 1037756 G A snp 114.77 0/1 99 41 32 9 0.22 exonic rs77830704 CNN2 AU nonsynonymous SNV NM_004368 exon7 c.G787A p.G263S 0.0003 0 0 D 1.000 D 0.987 D 0.997 D 0.927 D Pathogenic 19_1037766_G->A 19 1037766 1037766 G A snp 123.77 0/1 99 42 32 10 0.24 exonic rs78386506 CNN2 AU nonsynonymous SNV NM_004368 exon7 c.G797A p.R266Q 0.0002 0 0 D 0.991 D 0.703 D 0.846 T 0.327 P Pathogenic 19_1037781_C->A 19 1037781 1037781 C A snp 120.77 0/1 99 38 29 9 0.24 exonic rs75676484 CNN2 AU nonsynonymous SNV NM_004368 exon7 c.C812A p.P271H 8.565e-05 0 0 D 0.990 D -0.888 T 0.999 D 0.95 D Pathogenic 19_1037791_C->T 19 1037791 1037791 C T snp 76.77 0/1 99 36 30 6 0.17 exonic rs75577125 CNN2 AU synonymous SNV NM_004368 exon7 c.C822T p.C274C 7.72e-05 0 Uncertain 19_1037801_A->C 19 1037801 1037801 A C snp 82.77 0/1 99 34 27 7 0.21 exonic rs78797154 CNN2 AU nonsynonymous SNV NM_004368 exon7 c.A832C p.T278P 4.299e-05 0 1 T 1 N -0.989 T 0.006 T 0.02 T Pathogenic 19_1037807_G->A 19 1037807 1037807 G A snp 40.77 0/1 69 29 25 4 0.14 exonic rs78288829 CNN2 AU nonsynonymous SNV NM_004368 exon7 c.G838A p.A280T 2.58e-05 0 0.39 T 1 N -1.066 T 0.651 T 0.159 P Pathogenic 19_1037932_G->C 19 1037932 1037932 G C snp 141.03 1/1 12 4 0 4 1.0 UTR3 rs3848639 CNN2 AU 0.833666 0.8512 0.862890 0.8520 0.8538 Uncertain 19_1042809_A->G 19 1042809 1042809 A G snp 1963.77 1/1 99 76 0 76 1.0 exonic rs3764645 ABCA7 AD nonsynonymous SNV NM_019112 exon7 c.A563G p.E188G 0.399561 0.4355 0.388667 0.4838 0.4379 0.49 T 0.0 P -0.953 T 0.358 T 0.058 T Pathogenic 19_1043864_G->C 19 1043864 1043864 G C snp 2713.77 1/1 99 100 0 100 1.0 intronic rs4622634 ABCA7 AD NM_019112 exon10 c.2480+24G>C 0.358626 0.4246 0.349762 0.4302 0.4254 Uncertain 19_1044753_T->C 19 1044753 1044753 T C snp 601.77 1/1 45 18 0 18 1.0 intronic rs3764648 ABCA7 AD NM_019112 exon11 c.3383+10T>C 0.698641 0.7166 0.6896 Uncertain 19_1047002_A->G 19 1047002 1047002 A G snp 3414.77 1/1 99 104 0 104 1.0 exonic rs3752234 ABCA7 AD synonymous SNV NM_019112 exon14 c.A1824G p.A608A 0.578874 0.75 0.533654 0.5547 0.7103 Uncertain 19_1047161_A->G 19 1047161 1047161 A G snp 6469.77 1/1 99 242 0 242 1.0 exonic rs3752237 ABCA7 AD synonymous SNV NM_019112 exon15 c.A1851G p.G617G 0.695288 0.8056 0.624095 0.6784 0.8154 Uncertain 19_1049012_A->C 19 1049012 1049012 A C snp 1085.77 1/1 78 39 0 39 1.0 intronic rs4147912 ABCA7 AD NM_019112 exon17 c.7644+8A>C 0.819688 0.8046 0.775529 0.8030 0.8210 Uncertain 19_1049165_C->T 19 1049165 1049165 C T snp 206.84 1/1 18 6 0 6 1.0 intronic rs4147913 ABCA7 AD NM_019112 exon18 c.7904-99C>T 0.406749 0.7083 Uncertain 19_1049305_C->A 19 1049305 1049305 C A snp 2124.77 1/1 99 83 0 83 1.0 exonic rs4147915 ABCA7 AD synonymous SNV NM_019112 exon18 c.C2421A p.V807V 0.19988 0.371 0.131846 0.1792 0.3766 Uncertain 19_1049471_-->CA 19 1049471 1049471 - CA indel 788.25 1/1 9 23 3 20 0.87 intronic rs372218127 ABCA7 AD NM_019112 exon18 c.8076+35insCA 0.43111 0.6111 0.302987 0.0373 0.3824 Uncertain 19_1049480_A->T 19 1049480 1049480 A T snp 482.77 1/1 39 14 0 14 1.0 intronic rs75864702 ABCA7 AD NM_019112 exon18 c.8076+44A>T 0.429313 0.5952 0.0824 0.4449 Uncertain 19_1049490_C->- 19 1049490 1049490 C - indel 284.74 1/1 27 13 0 13 1.0 intronic ABCA7 AD NM_019112 exon18 c.8076+54delC Uncertain 19_1049491_C->G 19 1049491 1049491 C G snp 297.77 0/1 47 11 2 9 0.82 intronic rs530260102 ABCA7 AD NM_019112 exon18 c.8076+55C>G 0.748403 0.8313 Uncertain 19_1049515_G->A 19 1049515 1049515 G A snp 165.9 1/1 15 5 0 5 1.0 intronic ABCA7 AD NM_019112 exon18 c.8076+79G>A Uncertain 19_1050836_T->A 19 1050836 1050836 T A snp 37.77 0/1 66 7 5 2 0.29 intronic rs55999131 ABCA7 AD NM_019112 exon19 c.9559-83T>A 0.240415 0.1121 Uncertain 19_1050874_A->G 19 1050874 1050874 A G snp 1484.77 1/1 99 44 0 44 1.0 intronic rs12151021 ABCA7 AD NM_019112 exon19 c.9559-45A>G 0.63099 0.4911 0.653900 0.6893 0.5033 Uncertain 19_1051214_A->G 19 1051214 1051214 A G snp 998.77 0/1 99 72 30 42 0.58 exonic rs3752240 ABCA7 AD synonymous SNV NM_019112 exon20 c.A2745G p.V915V 0.289137 0.1101 0.365462 0.3361 0.1292 Uncertain 19_1051751_A->G 19 1051751 1051751 A G snp 80.77 0/1 98 6 3 3 0.5 intronic rs3764651 ABCA7 AD NM_019112 exon21 c.10225+166A>G 0.509984 0.3591 Uncertain 19_1052005_C->T 19 1052005 1052005 C T snp 1083.77 0/1 99 87 38 49 0.56 exonic rs3764652 ABCA7 AD synonymous SNV NM_019112 exon22 c.C3027T p.A1009A 0.379393 0.3353 0.401544 0.4256 0.3341 Uncertain 19_1053677_G->A 19 1053677 1053677 G A snp 501.77 0/1 99 44 25 19 0.43 intronic rs3752242 ABCA7 AD NM_019112 exon25 c.12426-109G>A 0.382388 0.3512 Uncertain 19_1054060_A->G 19 1054060 1054060 A G snp 3578.77 0/1 99 250 116 134 0.54 exonic rs3752243 ABCA7 AD synonymous SNV NM_019112 exon26 c.A3528G p.L1176L 0.536142 0.3819 0.526449 0.4723 0.3704 Uncertain 19_1055191_G->A 19 1055191 1055191 G A snp 1410.77 0/1 99 143 74 69 0.48 exonic rs3745842 ABCA7 AD nonsynonymous SNV NM_019112 exon30 c.G4046A p.R1349Q 0.390575 0.3482 0.406467 0.4433 0.3601 0.61 T 0.0 P -1.065 T 0.008 T 0.004 T Pathogenic 19_1056019_C->- 19 1056019 1056019 C - indel 785.73 0/1 99 61 27 34 0.56 intronic rs3833881 ABCA7 AD NM_019112 exon32 c.14704-45delC 0.535743 0.376 0.533168 0.4789 0.3731 Uncertain 19_1056065_A->G 19 1056065 1056065 A G snp 961.77 0/1 99 64 27 37 0.58 exonic rs881768 ABCA7 AD synonymous SNV NM_019112 exon32 c.A4239G p.R1413R 0.442093 0.3552 0.459372 0.4451 0.3479 Uncertain 19_1056492_G->C 19 1056492 1056492 G C snp 5527.77 1/1 99 196 0 196 1.0 exonic rs3752246 ABCA7 AD nonsynonymous SNV NM_019112 exon33 c.G4580C p.G1527A 0.825479 0.6478 0.872116 0.8405 0.6552 0.79 T 0.000 P -0.989 T 0.0 T 0.0 T ID=CM112762;DIS=Alzheimer disease, late-onset, association with;TAG=DP;PUB=21460841 DP Pathogenic 19_1059004_A->G 19 1059004 1059004 A G snp 1384.77 0/1 99 122 60 62 0.51 intronic rs2279796 ABCA7 AD NM_019112 exon40 c.17661-17A>G 0.574681 0.3641 0.576899 0.4856 0.3587 Uncertain 19_1062370_T->C 19 1062370 1062370 T C snp 559.77 0/1 99 43 25 18 0.42 intronic rs34606911 ABCA7 AD NM_019112 exon42 c.20952+58T>C 0.233427 0.1121 Uncertain 19_1063443_A->G 19 1063443 1063443 A G snp 56.74 1/1 6 2 0 2 1.0 intronic rs4147929 ABCA7 AD NM_019112 exon43 c.22182-99A>G 0.82488 0.6468 Uncertain 19_1063930_C->T 19 1063930 1063930 C T snp 1402.77 0/1 99 105 47 58 0.55 intronic rs4807499 ABCA7 AD NM_019112 exon44 c.22502+68C>T 0.201877 0.1111 Uncertain 19_1064193_G->A 19 1064193 1064193 G A snp 1912.77 1/1 99 72 0 72 1.0 exonic rs4147930 ABCA7 AD synonymous SNV NM_019112 exon45 c.G5985A p.L1995L 0.60643 0.4365 0.704341 0.7303 0.5413 Uncertain 19_1064453_G->C 19 1064453 1064453 G C snp 74.77 0/1 99 8 4 4 0.5 intronic rs4147931 ABCA7 AD NM_019112 exon45 c.22892+201G>C 0.199681 0.1111 Uncertain 19_1064485_C->T 19 1064485 1064485 C T snp 137.03 1/1 12 5 0 5 1.0 intronic rs4147932 ABCA7 AD NM_019112 exon45 c.22892+233C>T 0.605431 0.4355 Uncertain 19_1065018_G->T 19 1065018 1065018 G T snp 2440.77 1/1 99 83 0 83 1.0 exonic rs4147934 ABCA7 AD nonsynonymous SNV NM_019112 exon46 c.G6133T p.A2045S 0.605032 0.4325 0.749744 0.7317 0.5440 0.97 T 0.0 P -0.933 T 0.057 T 0.052 T Pathogenic 19_1065044_C->T 19 1065044 1065044 C T snp 1508.77 0/1 99 117 51 66 0.56 exonic rs4147935 ABCA7 AD synonymous SNV NM_019112 exon46 c.C6159T p.G2053G 0.261408 0.4049 0.2483 Uncertain 19_1065197_G->C 19 1065197 1065197 G C snp 7502.77 1/1 99 250 0 250 1.0 intronic rs4147936 ABCA7 AD NM_019112 exon46 c.23810+27G>C 0.605831 0.4355 0.705605 0.7220 0.4937 Uncertain 19_1065945_C->T 19 1065945 1065945 C T snp 83.77 0/1 69 5 2 3 0.6 downstream rs2242436 ABCA7 AD 0.186901 0.3214 Uncertain 19_1066256_G->A 19 1066256 1066256 G A snp 152.98 1/1 13 10 1 9 0.9 upstream;downstream rs4147938 HMHA1;ABCA7 UN 0.598842 0.4395 Uncertain 19_1068734_T->C 19 1068734 1068734 T C snp 5495.77 1/1 99 208 1 207 1.0 exonic rs3764653 HMHA1 AU synonymous SNV NM_012292 exon2 c.T412C p.L138L 0.404752 0.3611 0.403402 0.3822 0.3474 Uncertain 19_1068738_G->A 19 1068738 1068738 G A snp 5321.77 1/1 99 202 1 201 1.0 exonic rs1801284 HMHA1 AU nonsynonymous SNV NM_012292 exon2 c.G416A p.R139H 0.404752 0.3611 0.404450 0.3823 0.3470 0.15 T 0.000 P -0.946 T 0.008 T 0.002 T ID=CM982053;DIS=Graft versus host disease, association with;TAG=DP;PUB=9461441 DP Pathogenic 19_1071312_C->T 19 1071312 1071312 C T snp 1225.77 1/1 87 48 0 48 1.0 intronic rs4807506 HMHA1 AU NM_001282335 exon1 c.70-45C>T 0.620407 0.4474 0.7366 0.4623 0.57 T 0.000 P -1.021 T 0.17 T 0.015 T Uncertain 19_1073073_A->G 19 1073073 1073073 A G snp 235.8 1/1 21 7 0 7 1.0 intronic rs2072102 HMHA1 AU NM_001282335 exon2 c.1860-74A>G 0.741214 0.6409 Uncertain 19_1073409_C->G 19 1073409 1073409 C G snp 2541.77 1/1 99 86 0 86 1.0 intronic rs2074441 HMHA1 AU NM_001282335 exon3 c.2217-95C>G 0.773363 0.6409 Uncertain 19_1074000_A->T 19 1074000 1074000 A T snp 1550.77 1/1 99 53 0 53 1.0 exonic rs2074442 HMHA1 AU nonsynonymous SNV NM_012292 exon6 c.A777T p.E259D 0.776558 0.6498 0.804361 0.7901 0.7078 0.74 T 0.0 P -0.946 T 0.004 T 0.003 T Pathogenic 19_1074064_C->G 19 1074064 1074064 C G snp 1959.77 1/1 99 77 0 77 1.0 intronic rs12610818 HMHA1 AU NM_001282335 exon6 c.2815-38C>G 0.989217 1 0.987272 0.9873 0.9998 Uncertain 19_1074252_T->G 19 1074252 1074252 T G snp 2917.77 1/1 99 109 0 109 1.0 intronic rs11084881 HMHA1 AU NM_001282335 exon6 c.2953+12T>G 0.782947 0.6478 0.812029 0.7834 0.6622 Uncertain 19_1077985_A->G 19 1077985 1077985 A G snp 2254.77 1/1 99 74 1 73 0.99 exonic rs7251797 HMHA1 AU nonsynonymous SNV NM_012292 exon11 c.A1315G p.S439G 0.466653 0.3343 0.458597 0.4524 0.3842 0.37 T 0.0 P -1.020 T 0.001 T 0.003 T Pathogenic 19_1080189_G->C 19 1080189 1080189 G C snp 2836.77 0/1 99 250 132 118 0.47 intronic rs2074453 HMHA1 AU NM_001282335 exon13 c.8966-64G>C 0.438299 0.5198 Uncertain 19_1080311_G->C 19 1080311 1080311 G C snp 3471.77 0/1 99 249 105 144 0.58 exonic rs2074454 HMHA1 AU synonymous SNV NM_012292 exon14 c.G1761C p.P587P 0.742212 0.6548 0.773427 0.7693 0.6690 Uncertain 19_1081120_A->G 19 1081120 1081120 A G snp 389.77 0/1 99 25 9 16 0.64 intronic rs8113708 HMHA1 AU NM_001282335 exon16 c.9776+57A>G 0.751198 0.6637 Uncertain 19_1081617_A->G 19 1081617 1081617 A G snp 1353.77 0/1 99 123 63 60 0.49 exonic rs10404947 HMHA1 AU synonymous SNV NM_012292 exon18 c.A2259G p.Q753Q 0.760184 0.6607 0.799024 0.8065 0.7063 Uncertain 19_1090021_G->- 19 1090021 1090021 G - indel 1979.73 1/1 99 66 1 65 0.98 intronic rs398033675 POLR2E AU NM_002695 exon3 c.477+60delG 0.817292 0.8571 Uncertain 19_1094004_G->A 19 1094004 1094004 G A snp 4129.77 1/1 99 154 0 154 1.0 exonic rs12459404 POLR2E AU nonsynonymous SNV NM_002695 exon2 c.C131T p.S44F 1 1 0.999923 0.9999 1 1 T 0.001 P -0.975 T 0.0 T 0.0 T Pathogenic 19_1095151_A->G 19 1095151 1095151 A G snp 786.77 1/1 57 25 0 25 1.0 intronic rs10416031 POLR2E AU NM_002695 exon8 c.5773-106A>G 0.777756 0.9742 Uncertain 19_1095336_C->T 19 1095336 1095336 C T snp 2893.77 1/1 99 119 0 119 1.0 UTR5 rs1046041 POLR2E AU 0.642572 0.622 0.599363 0.5505 0.6690 Uncertain 19_1105840_GGGGTG->- 19 1105840 1105845 GGGGTG - indel 1328.73 0/1 99 42 10 32 0.76 intronic rs146333943 GPX4 AR NM_002085 exon4 c.1766+32_1766+37delGGGGTG 0.130391 0.1687 0.131885 0.1346 0.1634 Uncertain 19_1106615_T->C 19 1106615 1106615 T C snp 4132.77 1/1 99 152 0 152 1.0 UTR3 rs713041 GPX4 AR 0.599042 0.5387 0.592023 0.5960 0.5980 ID=CR025893;DIS=Increased 5-lipoxygenase metabolism;TAG=FP;PUB=12490284 FP Uncertain 19_1109213_A->G 19 1109213 1109213 A G snp 6322.77 1/1 99 208 0 208 1.0 splicing rs2159133 SBNO2 AU NM_014963 exon3 c.992+3A>G 0.59345 0.4712 0.443287 0.5741 0.5477 Pathogenic 19_1110829_G->A 19 1110829 1110829 G A snp 7440.77 1/1 99 250 0 250 1.0 exonic rs2302109 SBNO2 AU synonymous SNV NM_001100122 exon23 c.C2772T p.N924N 0.558307 0.4405 0.555731 0.5352 0.4804 Uncertain 19_1110976_GA->- 19 1110976 1110977 GA - indel 4580.73 0/1 99 243 127 116 0.48 intronic rs146515706 SBNO2 AU NM_014963 exon8 c.2799-41_2799-40delGA 0.0746805 0.2004 0.031894 0.0701 0.2473 Uncertain 19_1112579_C->T 19 1112579 1112579 C T snp 329.77 0/1 99 22 8 14 0.64 intronic rs62131217 SBNO2 AU NM_014963 exon12 c.4318+43C>T 0.144169 0.126 0.157678 0.2190 0.1500 Uncertain 19_1112943_G->C 19 1112943 1112943 G C snp 1201.77 0/1 99 149 89 60 0.4 exonic rs7249065 SBNO2 AU synonymous SNV NM_001100122 exon17 c.C2082G p.T694T 0.0782748 0.2163 0.025905 0.0981 0.3065 Uncertain 19_1113701_G->A 19 1113701 1113701 G A snp 507.77 0/1 99 54 30 24 0.44 exonic rs2302110 SBNO2 AU nonsynonymous SNV NM_001100122 exon16 c.C1909T p.P637S 0.154353 0.125 0.166275 0.2547 0.1722 0.85 T 0.0 P -1.032 T 0.001 T 0.004 T Pathogenic 19_1114119_C->T 19 1114119 1114119 C T snp 331.77 0/1 99 27 13 14 0.52 intronic rs3746162 SBNO2 AU NM_014963 exon15 c.6011-110C>T 0.157149 0.125 Uncertain 19_1115782_G->A 19 1115782 1115782 G A snp 1902.77 1/1 99 69 0 69 1.0 intronic rs2072281 SBNO2 AU NM_014963 exon16 c.7801-237G>A 0.567692 0.4643 0.5820 0.6852 Uncertain 19_1115789_A->G 19 1115789 1115789 A G snp 2010.77 1/1 99 74 0 74 1.0 intronic rs2072282 SBNO2 AU NM_014963 exon16 c.7801-230A>G 0.596645 0.4673 0.6035 0.7115 Uncertain 19_1116117_C->T 19 1116117 1116117 C T snp 587.77 0/1 99 48 19 29 0.6 intronic rs2072283 SBNO2 AU NM_014963 exon16 c.7884+15C>T 0.0796725 0.2252 0.028697 0.0599 0.2320 Uncertain 19_1116935_G->A 19 1116935 1116935 G A snp 3484.77 1/1 99 128 0 128 1.0 intronic rs7251039 SBNO2 AU NM_014963 exon17 c.8707+10G>A 0.572085 0.4573 0.566815 0.5602 0.5519 Uncertain 19_1117007_T->C 19 1117007 1117007 T C snp 1021.77 1/1 39 36 1 35 0.97 intronic rs8112247 SBNO2 AU NM_014963 exon17 c.8707+82T>C 0.598642 0.4593 Uncertain 19_1118909_G->A 19 1118909 1118909 G A snp 261.77 0/1 87 11 3 8 0.73 intronic rs3826954 SBNO2 AU NM_014963 exon19 c.10791-100G>A 0.440495 0.2371 Uncertain 19_1119019_C->T 19 1119019 1119019 C T snp 1716.77 0/1 99 153 75 78 0.51 exonic rs2074920 SBNO2 AU synonymous SNV NM_001100122 exon11 c.G1347A p.A449A 0.489018 0.2371 0.537020 0.5329 0.3500 Uncertain 19_1119699_A->G 19 1119699 1119699 A G snp 3878.77 1/1 99 135 1 134 0.99 intronic rs7249751 SBNO2 AU NM_014963 exon20 c.11402+79A>G 0.535343 0.5109 Uncertain 19_1119876_T->G 19 1119876 1119876 T G snp 761.77 0/1 99 54 30 24 0.44 intronic rs8107205 SBNO2 AU NM_014963 exon21 c.11686-28T>G 0.432708 0.2381 0.4158 0.2469 Uncertain 19_1119963_A->G 19 1119963 1119963 A G snp 2576.77 0/1 99 229 116 113 0.49 exonic rs2074921 SBNO2 AU synonymous SNV NM_001100122 exon9 c.T1038C p.A346A 0.440296 0.2371 0.438759 0.4559 0.3064 Uncertain 19_1120101_C->G 19 1120101 1120101 C G snp 2506.77 0/1 99 187 82 105 0.56 intronic rs2074922 SBNO2 AU NM_014963 exon21 c.11804+79C>G 0.440495 0.2371 Uncertain 19_1120192_G->A 19 1120192 1120192 G A snp 113.77 0/1 99 17 12 5 0.29 intronic rs12610007 SBNO2 AU NM_014963 exon21 c.11804+170G>A 0.0794728 0.2192 Uncertain 19_1122147_G->A 19 1122147 1122147 G A snp 2083.77 0/1 99 143 68 75 0.52 exonic rs2072280 SBNO2 AU synonymous SNV NM_001100122 exon8 c.C969T p.F323F 0.440096 0.2371 0.447113 0.5053 0.3281 Uncertain 19_1123113_C->T 19 1123113 1123113 C T snp 112.77 0/1 99 13 7 6 0.46 intronic rs75919268 SBNO2 AU NM_014963 exon25 c.14826+69C>T 0.0790735 0.2183 Uncertain 19_1124053_A->G 19 1124053 1124053 A G snp 657.77 0/1 99 77 44 33 0.43 intronic rs2024093 SBNO2 AU NM_014963 exon27 c.15803+32A>G 0.497204 0.2391 0.535737 0.5174 0.3221 0.0 P -1.036 T Uncertain 19_1127842_T->C 19 1127842 1127842 T C snp 565.77 0/1 99 40 17 23 0.57 intronic rs2074917 SBNO2 AU NM_014963 exon28 c.19546+78T>C 0.118211 0.1518 Uncertain 19_1127876_T->C 19 1127876 1127876 T C snp 239.77 0/1 99 16 6 10 0.63 intronic rs2074918 SBNO2 AU NM_014963 exon28 c.19546+112T>C 0.117812 0.1518 Uncertain 19_1128312_A->G 19 1128312 1128312 A G snp 690.77 0/1 99 56 29 27 0.48 intronic rs10412207 SBNO2 AU NM_014963 exon28 c.19546+548A>G 0.311302 0.3452 0.222016 0.4159 0.4983 Uncertain 19_1131981_G->A 19 1131981 1131981 G A snp 582.77 0/1 99 54 31 23 0.43 intronic rs2286399 SBNO2 AU NM_001100122 exon29 c.23870-107G>A 0.107827 0.1429 Uncertain 19_1132007_G->T 19 1132007 1132007 G T snp 1063.77 0/1 99 105 57 48 0.46 intronic rs2286400 SBNO2 AU NM_001100122 exon29 c.23870-81G>T 0.192492 0.1518 Uncertain 19_1207238_G->T 19 1207238 1207238 G T snp 1006.77 0/1 99 84 42 42 0.5 intronic rs3764640 STK11 AU,AD,AO NM_000455 exon1 c.290+36G>T 0.353435 0.7004 0.229514 0.3247 0.6762 Uncertain 19_1219274_G->A 19 1219274 1219274 G A snp 917.77 0/1 99 93 48 45 0.48 intronic rs34928889 STK11 AU,AD,AO NM_000455 exon3 c.12410-48G>A 0.530152 0.8522 0.423644 0.4661 0.8146 Uncertain 19_1220321_T->C 19 1220321 1220321 T C snp 1038.77 0/1 99 77 40 37 0.48 intronic rs2075606 STK11 AU,AD,AO NM_000455 exon4 c.13459-50T>C 0.359625 0.5417 0.268410 Uncertain 19_1221161_C->T 19 1221161 1221161 C T snp 2591.77 0/1 99 217 102 115 0.53 intronic rs9282860 STK11 AU,AD,AO NM_000455 exon6 c.14299-50C>T 0.101038 0.1389 0.044889 Uncertain 19_1231142_T->C 19 1231142 1231142 T C snp 3499.77 1/1 99 125 0 125 1.0 exonic rs8110590 C19orf26 AU nonsynonymous SNV NM_152769 exon9 c.A1112G p.H371R 0.651358 0.9911 0.520691 0.5551 0.9851 0.69 T 0.0 P -0.986 T 0.0 T 0.001 T Pathogenic 19_1233706_G->C 19 1233706 1233706 G C snp 56.74 1/1 6 2 0 2 1.0 intronic rs2890122 C19orf26 AU NM_152769 exon2 c.2744+71G>C Uncertain 19_1234397_A->G 19 1234397 1234397 A G snp 40.77 0/1 69 5 3 2 0.4 intronic rs75522877 C19orf26 AU NM_152769 exon3 c.3439+67A>G 0.100639 0.1438 Uncertain 19_1235487_G->A 19 1235487 1235487 G A snp 749.77 0/1 99 64 31 33 0.52 intronic rs3213645 C19orf26 AU NM_152769 exon6 c.4608-12G>A 0.130192 0.1448 0.075943 0.1165 0.2324 Uncertain 19_1244518_G->C 19 1244518 1244518 G C snp 158.77 0/1 99 9 3 6 0.67 UTR3 rs735524 ATP5D AU 0.091254 0.1607 Uncertain 19_1251781_A->G 19 1251781 1251781 A G snp 6012.77 1/1 99 230 0 230 1.0 intronic rs2285811 MIDN AU NM_177401 exon4 c.1542-56A>G 0.590256 0.6161 0.526938 Uncertain 19_1254122_G->A 19 1254122 1254122 G A snp 936.77 1/1 30 35 2 33 0.94 intronic rs2301761 MIDN AU NM_177401 exon5 c.3870-43G>A 0.382588 0.506 0.343629 0.5479 0.6360 Uncertain 19_1255253_C->T 19 1255253 1255253 C T snp 96.28 1/1 9 3 0 3 1.0 intronic rs10412640 MIDN AU NM_177401 exon7 c.5125-167C>T 0.378594 0.5069 Uncertain 19_1256998_C->T 19 1256998 1256998 C T snp 4269.77 1/1 99 167 0 167 1.0 exonic rs9823 MIDN AU synonymous SNV NM_177401 exon8 c.C1134T p.D378D 0.301917 0.4901 0.267827 0.3374 0.5072 Uncertain 19_1268178_G->A 19 1268178 1268178 G A snp 274.8 1/1 21 10 0 10 1.0 ncRNA_exonic rs12975875 CIRBP-AS1 AU 0.789137 0.9653 Uncertain 19_1270232_C->- 19 1270232 1270232 C - indel 1162.73 1/1 94 59 1 58 0.98 ncRNA_exonic rs398033678 CIRBP-AS1 AU 0.797524 0.9623 Uncertain 19_1271274_C->T 19 1271274 1271274 C T snp 6416.77 1/1 99 250 0 250 1.0 intronic rs12609287 CIRBP AU NM_001280 exon3 c.313+29C>T 0.768171 0.9663 0.712902 0.7849 0.9773 Uncertain 19_1271529_C->T 19 1271529 1271529 C T snp 1500.77 1/1 99 50 0 50 1.0 intronic rs4807050 CIRBP AU NM_001280 exon5 c.617-20C>T 0.778754 0.9762 0.718726 0.7890 0.9789 Uncertain 19_1272040_T->C 19 1272040 1272040 T C snp 4633.77 1/1 99 153 0 153 1.0 exonic rs12488 CIRBP AU synonymous SNV NM_001280 exon6 c.T492C p.Y164Y 0.800919 0.9673 0.742042 0.7969 0.9795 Uncertain 19_1274539_T->C 19 1274539 1274539 T C snp 711.77 1/1 54 22 0 22 1.0 UTR3 rs8108009 CIRBP AU 0.828674 0.9702 Uncertain 19_1277275_G->C 19 1277275 1277275 G C snp 3027.77 1/1 99 115 1 114 0.99 exonic rs757292 C19orf24 AU synonymous SNV NM_017914 exon2 c.G375C p.V125V 0.850639 0.9722 0.792816 0.8222 0.9662 Uncertain 19_1277427_T->C 19 1277427 1277427 T C snp 82.28 1/1 9 3 0 3 1.0 intronic rs757293 C19orf24 AU NM_017914 exon2 c.1750+129T>C 0.97484 0.999 Uncertain 19_1298385_AG->- 19 1298385 1298386 AG - indel 239.87 1/1 15 5 0 5 1.0 intronic rs78378035 EFNA2 AU NM_001405 exon3 c.12382-164_12382-163delAG 0.0171725 0.0774 Uncertain 19_1354984_GCG->- 19 1354984 1354986 GCG - indel 273.8 1/1 18 6 0 6 1.0 UTR5 rs371221738 MUM1 AU 0.57488 0.376 0 . Uncertain 19_1356768_C->T 19 1356768 1356768 C T snp 88.28 1/1 9 3 0 3 1.0 intronic rs185053345 MUM1 AU NM_032853 exon3 c.619-239C>T 0.000599042 0.003 Uncertain 19_1357082_T->C 19 1357082 1357082 T C snp 3566.77 1/1 99 122 0 122 1.0 exonic rs713042 MUM1 AU synonymous SNV NM_032853 exon3 c.T135C p.S45S 0.71266 0.5565 0.781101 0.7492 0.5372 Uncertain 19_1358726_C->T 19 1358726 1358726 C T snp 3931.77 1/1 99 138 0 138 1.0 intronic rs2285972 MUM1 AU NM_032853 exon4 c.2075+263C>T 0.390575 0.3869 0.5476 0.4071 Uncertain 19_1360575_G->A 19 1360575 1360575 G A snp 5677.77 1/1 99 198 0 198 1.0 exonic rs3826942 MUM1 AU nonsynonymous SNV NM_032853 exon5 c.G658A p.G220R 0.672923 0.5149 0.732662 0.7086 0.4876 0.82 T 0.0 P -1.004 T 0.0 T 0.0 T Pathogenic 19_1364306_A->G 19 1364306 1364306 A G snp 561.77 1/1 42 17 0 17 1.0 intronic rs17673260 MUM1 AU NM_032853 exon7 c.8119-201A>G 0.357029 0.4067 Uncertain 19_1366180_GCTGGGGTCACCCCCAGA->- 19 1366180 1366197 GCTGGGGTCACCCCCAGA - indel 8984.73 1/1 99 51 0 51 1.0 intronic rs58113700 MUM1 AU NM_032853 exon8 c.9915-123_9915-106delGCTGGGGTCACCCCCAGA 0.577875 0.5317 Uncertain 19_1366422_C->G 19 1366422 1366422 C G snp 3018.77 1/1 99 106 0 106 1.0 intronic rs2668418 MUM1 AU NM_032853 exon8 c.9992+42C>G 0.697085 0.5397 0.7185 0.5286 Uncertain 19_1370675_C->G 19 1370675 1370675 C G snp 1170.77 1/1 84 41 0 41 1.0 exonic rs12608765 MUM1 AU synonymous SNV NM_032853 exon12 c.C1587G p.V529V 0.328275 0.369 0.359357 0.4139 0.4080 Uncertain 19_1383649_G->T 19 1383649 1383649 G T snp 1294.77 1/1 59 45 1 44 0.98 upstream rs3848638 NDUFS7 AR,AO 0.38119 0.3046 Uncertain 19_1388538_C->T 19 1388538 1388538 C T snp 727.77 1/1 54 23 0 23 1.0 exonic rs1142530 NDUFS7 AR,AO nonsynonymous SNV NM_024407 exon3 c.C68T p.P23L 0.455671 0.3264 0.540622 0.5502 0.3044 0.49 T 0.0 P -0.919 T 0.01 T 0.001 T CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000117716.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 19_1389064_G->T 19 1389064 1389064 G T snp 4700.77 1/1 99 179 4 175 0.98 intronic rs7258846 NDUFS7 AR,AO NM_024407 exon4 c.5012+127G>T 0.455671 0.3274 0.5774 0.3831 0.000 P -0.914 T Uncertain 19_1389325_CT->- 19 1389325 1389326 CT - indel 6246.73 1/1 99 123 0 123 1.0 intronic rs35005907 NDUFS7 AR,AO NM_024407 exon4 c.5012+388_5012+389delCT 0.45647 0.3274 0.5821 0.3526 ID=COSM1589761,COSM1589760;OCCURENCE=1(endometrium) Uncertain 19_1389517_C->A 19 1389517 1389517 C A snp 6183.77 1/1 99 250 1 249 1.0 intronic rs11666067 NDUFS7 AR,AO NM_024407 exon4 c.5012+580C>A 0.459864 0.3274 0.5865 0.36 0.000 P -0.953 T Uncertain 19_1391235_G->A 19 1391235 1391235 G A snp 699.77 1/1 51 27 0 27 1.0 intronic rs2074897 NDUFS7 AR,AO NM_024407 exon6 c.7239+71G>A 0.297125 0.3016 0.363158 Uncertain 19_1407619_GCC->- 19 1407619 1407621 GCC - indel 238.25 0/1 9 7 1 6 0.86 UTR5 DAZAP1 AU Uncertain 19_1421047_CT->- 19 1421047 1421048 CT - indel 307.73 0/1 99 20 12 8 0.4 intronic rs72458772 DAZAP1 AU NM_018959 exon5 c.13374-99_13374-98delCT 0.0780751 0.1032 Uncertain 19_1422299_T->C 19 1422299 1422299 T C snp 486.77 0/1 99 33 15 18 0.55 intronic rs2271055 DAZAP1 AU NM_018959 exon6 c.14574-47T>C 0.499601 0.3661 0.513763 0.4155 0.3640 Uncertain 19_1434842_C->T 19 1434842 1434842 C T snp 1064.77 0/1 99 103 59 44 0.43 exonic rs61735591 DAZAP1 AU synonymous SNV NM_018959 exon12 c.C1155T p.P385P 0.04373 0.0685 0.031056 0.0543 0.0749 Uncertain 19_1452935_G->A 19 1452935 1452935 G A snp 77.77 0/1 99 7 4 3 0.43 intronic APC2 AU Uncertain 19_1453705_T->C 19 1453705 1453705 T C snp 636.77 1/1 48 20 0 20 1.0 intronic rs12985827 APC2 AU NM_005883 exon4 c.610+95T>C 0.601238 0.7133 Uncertain 19_1455933_-->AGAGTCAGAGCCCAGGGCGAAGTCATCCCAGGA 19 1455933 1455933 - AGAGTCAGAGCCCAGGGCGAAGTCATCCCAGGA indel 2826.75 1/1 24 8 0 8 1.0 intronic rs146334923 APC2 AU NM_005883 exon7 c.3074-141insAGAGTCAGAGCCCAGGGCGAAGTCATCCCAGGA 0.59385 0.6746 Uncertain 19_1456544_A->G 19 1456544 1456544 A G snp 354.78 1/1 27 12 0 12 1.0 intronic rs2656869 APC2 AU NM_005883 exon8 c.3403+141A>G 0.664137 0.7272 Uncertain 19_1456595_G->C 19 1456595 1456595 G C snp 59.74 1/1 6 3 0 3 1.0 intronic rs3896894 APC2 AU NM_005883 exon8 c.3403+192G>C 0.567492 0.7183 Uncertain 19_1456730_G->T 19 1456730 1456730 G T snp 141.03 1/1 12 4 0 4 1.0 intronic rs3896893 APC2 AU NM_005883 exon9 c.3851-121G>T 0.47524 0.6825 Uncertain 19_1457875_G->A 19 1457875 1457875 G A snp 56.74 1/1 6 2 0 2 1.0 intronic rs12005 APC2 AU NM_005883 exon10 c.4963-88G>A 0.66254 0.7192 Uncertain 19_1460473_G->A 19 1460473 1460473 G A snp 414.77 0/1 99 33 18 15 0.45 intronic rs11668593 APC2 AU NM_005883 exon11 c.7319+154G>A 0.180312 0.2639 Uncertain 19_1467684_A->C 19 1467684 1467684 A C snp 1182.77 1/1 87 38 0 38 1.0 exonic rs265273 APC2 AU synonymous SNV NM_005883 exon15 c.A4384C p.R1462R 0.975839 1 0.9536 1 Uncertain 19_1483044_T->G 19 1483044 1483044 T G snp 56.77 0/1 85 72 44 28 0.39 intronic rs747682523 PCSK4 AU NM_017573 exon3 c.1262+25T>G 0.0005 0.0013 Uncertain 19_1487083_C->T 19 1487083 1487083 C T snp 1955.77 0/1 99 191 106 85 0.45 intronic rs4807119 PCSK4 AU NM_017573 exon8 c.5307+19C>T 0.195780 0.2414 0.2108 Uncertain 19_1488147_C->T 19 1488147 1488147 C T snp 4159.77 1/1 99 144 0 144 1.0 intronic rs4807120 PCSK4 AU NM_017573 exon13 c.6429-39C>T 0.432508 0.5139 0.443094 0.5266 0.4939 Uncertain 19_1495526_G->C 19 1495526 1495526 G C snp 3113.77 0/1 99 249 132 117 0.47 exonic rs76079175 REEP6 AU nonsynonymous SNV NM_138393 exon3 c.G268C p.V90L 0.00459265 0.0208 0.000154 0.0013 0.0116 0.22 T 1 D 0.744 D 1.0 D 0.999 D Pathogenic 19_1496700_TG->- 19 1496700 1496701 TG - indel 447.73 0/1 99 56 24 32 0.57 intronic rs753233393 REEP6 AU NM_138393 exon4 c.5184+248_5184+249delTG 0.189659 0.0302 0.0618 Uncertain 19_1508737_C->T 19 1508737 1508737 C T snp 1243.77 1/1 90 37 0 37 1.0 intronic rs55810939 ADAMTSL5 AU NM_213604 exon7 c.2556+168C>T 0.39397 0.8036 Uncertain 19_1508757_G->C 19 1508757 1508757 G C snp 808.77 1/1 60 22 0 22 1.0 intronic rs56135389 ADAMTSL5 AU NM_213604 exon7 c.2556+188G>C 0.403954 0.8036 Uncertain 19_1510661_A->G 19 1510661 1510661 A G snp 580.77 1/1 42 22 0 22 1.0 exonic rs265291 ADAMTSL5 AU synonymous SNV NM_213604 exon3 c.T168C p.S56S 0.935703 0.999 0.931002 0.9146 1 Uncertain 19_1526931_A->C 19 1526931 1526931 A C snp 4842.77 1/1 99 185 2 183 0.99 UTR5 rs2656858 PLK5 AU 0.689097 0.7192 Uncertain 19_1527052_G->- 19 1527052 1527052 G - indel 2090.73 1/1 99 71 0 71 1.0 intronic rs11288093 PLK5 AU NM_001243079 exon6 c.2+55delG 0.767572 0.7312 Uncertain 19_1527772_G->A 19 1527772 1527772 G A snp 337.78 1/1 27 10 0 10 1.0 intronic rs7254681 PLK5 AU NM_001243079 exon7 c.939-162G>A 0.375998 0.7272 Uncertain 19_1527806_G->A 19 1527806 1527806 G A snp 1128.77 1/1 84 33 1 32 0.97 intronic rs7254791 PLK5 AU NM_001243079 exon7 c.939-128G>A 0.370208 0.7272 Uncertain 19_1528231_T->C 19 1528231 1528231 T C snp 3811.77 1/1 99 131 0 131 1.0 intronic rs2668408 PLK5 AU NM_001243079 exon8 c.1305-69T>C 0.761581 0.7351 Uncertain 19_1528500_C->T 19 1528500 1528500 C T snp 141.03 1/1 12 4 0 4 1.0 intronic rs150382869 PLK5 AU NM_001243079 exon8 c.1432+73C>T Uncertain 19_1528504_G->A 19 1528504 1528504 G A snp 126.03 1/1 12 4 0 4 1.0 intronic rs62128511 PLK5 AU NM_001243079 exon8 c.1432+77G>A Uncertain 19_1528780_A->C 19 1528780 1528780 A C snp 224.84 1/1 18 6 0 6 1.0 intronic rs2656861 PLK5 AU NM_001243079 exon9 c.1901-116A>C 0.524561 0.7312 Uncertain 19_1529527_G->C 19 1529527 1529527 G C snp 1715.77 1/1 99 61 0 61 1.0 intronic rs2668409 PLK5 AU NM_001243079 exon10 c.2494+38G>C 0.82488 0.8145 0.7987 0.8535 Uncertain 19_1529550_A->G 19 1529550 1529550 A G snp 1795.77 1/1 99 58 0 58 1.0 intronic rs2656863 PLK5 AU NM_001243079 exon10 c.2494+61A>G 0.882188 0.8958 Uncertain 19_1530015_C->G 19 1530015 1530015 C G snp 349.78 1/1 27 9 0 9 1.0 intronic rs2668410 PLK5 AU NM_001243079 exon11 c.2828+192C>G 0.821286 0.9266 Uncertain 19_1530033_C->G 19 1530033 1530033 C G snp 218.84 1/1 18 6 0 6 1.0 intronic rs2656864 PLK5 AU NM_001243079 exon11 c.2828+210C>G 0.644569 0.7411 Uncertain 19_1531512_G->A 19 1531512 1531512 G A snp 178.9 1/1 15 5 0 5 1.0 intronic rs11667051 PLK5 AU NM_001243079 exon12 c.4741-224G>A 0.575479 0.8452 Uncertain 19_1533883_T->G 19 1533883 1533883 T G snp 40.77 0/1 69 5 3 2 0.4 intronic PLK5 AU NM_001243079 exon13 c.6934-46T>G Uncertain 19_1533972_C->G 19 1533972 1533972 C G snp 97.77 0/1 99 22 15 7 0.32 exonic rs11084897 PLK5 AU nonsynonymous SNV NM_001243079 exon13 c.C757G p.L253V 0.40595 0.625 0.3451 0.605 Pathogenic 19_1534042_T->C 19 1534042 1534042 T C snp 127.77 0/1 99 48 40 8 0.17 splicing rs10853954 PLK5 AU NM_001243079 exon13 c.7045+2T>C 0.40635 0.626 0.3459 0.6010 Pathogenic 19_1534157_A->G 19 1534157 1534157 A G snp 42.77 0/1 71 20 16 4 0.2 intronic PLK5 AU NM_001243079 exon13 c.7045+117A>G Uncertain 19_1534191_C->T 19 1534191 1534191 C T snp 122.77 0/1 66 7 3 4 0.57 intronic rs10775585 PLK5 AU NM_001243079 exon13 c.7045+151C>T 0.405551 0.627 Uncertain 19_1534198_A->G 19 1534198 1534198 A G snp 116.77 0/1 66 7 2 5 0.71 intronic rs12608783 PLK5 AU NM_001243079 exon13 c.7045+158A>G 0.23123 0.3968 Uncertain 19_1534215_T->C 19 1534215 1534215 T C snp 80.77 0/1 69 5 2 3 0.6 intronic rs11084899 PLK5 AU NM_001243079 exon13 c.7045+175T>C 0.40615 0.627 Uncertain 19_1535084_G->A 19 1535084 1535084 G A snp 988.77 0/1 99 73 31 42 0.58 exonic rs12984316 PLK5 AU synonymous SNV NM_001243079 exon14 c.G846A p.P282P 0.407748 0.629 0.3389 0.6214 Uncertain 19_1535179_G->A 19 1535179 1535179 G A snp 879.77 0/1 99 83 45 38 0.46 exonic rs55953917 PLK5 AU nonsynonymous SNV NM_001243079 exon14 c.G941A p.R314Q 0.239617 0.1528 0.3637 0.1515 Pathogenic 19_1535194_CCC->- 19 1535194 1535196 CCC - indel 1965.73 0/1 99 86 43 43 0.5 exonic rs58035688 PLK5 AU nonframeshift deletion NM_001243079 exon14 c.956_958del p.319_320del 0.458666 0.628 0.3347 0.61 Uncertain 19_1535205_G->C 19 1535205 1535205 G C snp 878.77 0/1 99 81 43 38 0.47 exonic rs265282 PLK5 AU nonsynonymous SNV NM_001243079 exon14 c.G967C p.G323R 0.507788 0.629 0.3419 0.61 Pathogenic 19_1535291_G->A 19 1535291 1535291 G A snp 536.77 0/1 99 53 27 26 0.49 UTR3 rs12462146 PLK5 AU 0.385783 0.629 0.3329 0.6127 Uncertain 19_1535349_G->A 19 1535349 1535349 G A snp 477.77 1/1 36 16 0 16 1.0 UTR3 rs265281 PLK5 AU 0.768171 0.7808 Uncertain 19_1555434_-->C 19 1555434 1555434 - C indel 210.73 0/1 99 22 8 14 0.64 UTR3 rs200001023 MEX3D AU 0.427316 0.3204 0.3213 0.3015 Uncertain 19_1611917_G->T 19 1611917 1611917 G T snp 1003.77 1/1 78 31 1 30 0.97 intronic rs2302086 TCF3 AD NM_003200 exon1 c.143+69G>T 0.112819 0.37 Uncertain 19_1611941_T->G 19 1611941 1611941 T G snp 118.77 0/1 94 23 12 11 0.48 intronic TCF3 AD NM_003200 exon1 c.143+93T>G Uncertain 19_1615796_G->A 19 1615796 1615796 G A snp 3417.77 1/1 99 125 0 125 1.0 exonic rs2074888 TCF3 AD nonsynonymous SNV NM_003200 exon17 c.C1475T p.A492V 0.113618 0.374 0.013455 0.0527 0.4020 0.38 T 0.0 P -0.910 T 0.012 T 0.004 T Pathogenic 19_1619339_T->C 19 1619339 1619339 T C snp 1010.77 1/1 72 34 0 34 1.0 exonic rs8140 TCF3 AD synonymous SNV NM_003200 exon15 c.A1302G p.S434S 0.623802 0.8839 0.490172 0.4963 0.8709 Uncertain 19_1619749_-->GGGTG 19 1619749 1619749 - GGGTG indel 1268.73 1/1 54 21 0 21 1.0 intronic rs10648013 TCF3 AD NM_003200 exon6 c.8073-29insGGGTG 0.314297 0.5645 0.215011 0.2448 0.5920 Uncertain 19_1623850_G->C 19 1623850 1623850 G C snp 1082.77 1/1 81 30 0 30 1.0 intronic rs2240592 TCF3 AD NM_003200 exon12 c.12244-99G>C 0.114018 0.3671 Uncertain 19_1624007_A->G 19 1624007 1624007 A G snp 6885.77 1/1 99 250 1 249 1.0 intronic rs55677929 TCF3 AD NM_003200 exon12 c.12294+8A>G 0.366813 0.6716 0.247232 0.2663 0.6777 Uncertain 19_1625811_T->C 19 1625811 1625811 T C snp 1181.77 1/1 84 43 0 43 1.0 intronic rs11084904 TCF3 AD NM_003200 exon13 c.14002+104T>C 0.380591 0.6746 Uncertain 19_1646221_C->T 19 1646221 1646221 C T snp 2041.77 1/1 99 72 0 72 1.0 intronic rs2302419 TCF3 AD NM_003200 exon17 c.34648-132C>T 0.308307 0.4573 Uncertain 19_1650134_A->G 19 1650134 1650134 A G snp 1585.77 1/1 99 57 0 57 1.0 intronic rs1860661 TCF3 AD NM_003200 exon18 c.38470-41A>G 0.740415 0.9028 0.456399 0.5724 0.8679 Uncertain 19_1789556_C->T 19 1789556 1789556 C T snp 2955.77 1/1 99 104 0 104 1.0 exonic rs12978609 ATP8B3 AU synonymous SNV NM_001178002 exon23 c.G2538A p.Q846Q 0.309704 0.4395 0.254849 0.3169 0.4851 Uncertain 19_1792190_A->C 19 1792190 1792190 A C snp 322.78 1/1 27 9 0 9 1.0 intronic rs2286004 ATP8B3 AU NM_001178002 exon11 c.9108+56A>C 0.330072 0.4534 Uncertain 19_1795784_ACACACACACACACAC->- 19 1795784 1795799 ACACACACACACACAC - indel 2311.73 ./1 99 28 5 23 0.82 intronic ATP8B3 AU NM_001178002 exon12 c.12847-89_12847-74delACACACACACACACAC Uncertain 19_1795784_ACACACACACACAC->- 19 1795784 1795797 ACACACACACACAC - indel 2311.73 ./1 99 28 5 23 0.82 intronic rs10526864 ATP8B3 AU NM_001178002 exon12 c.12847-89_12847-76delACACACACACACAC Uncertain 19_1796166_C->T 19 1796166 1796166 C T snp 4147.77 1/1 99 161 0 161 1.0 exonic rs8100856 ATP8B3 AU nonsynonymous SNV NM_001178002 exon17 c.G1711A p.V571I 0.266374 0.5784 0.145726 0.2107 0.5964 1 T 0.001 P -0.907 T 0.002 T 0.005 T Pathogenic 19_1802433_T->C 19 1802433 1802433 T C snp 1353.77 1/1 99 38 0 38 1.0 intronic rs10418344 ATP8B3 AU NM_001178002 exon19 c.19459-52T>C 0.286542 0.5804 Uncertain 19_1806210_A->C 19 1806210 1806210 A C snp 1582.77 1/1 99 58 0 58 1.0 intronic rs7252063 ATP8B3 AU NM_001178002 exon22 c.23142+42A>C 1 1 1.0000 1 Uncertain 19_1806748_C->T 19 1806748 1806748 C T snp 1219.77 0/1 99 93 47 46 0.49 intronic rs7252279 ATP8B3 AU NM_001178002 exon23 c.23662+60C>T 0.107628 0.249 0.051451 Uncertain 19_1808451_ACAC->- 19 1808451 1808454 ACAC - indel 373.8 1/1 18 10 0 10 1.0 intronic rs10596010 ATP8B3 AU NM_001178002 exon25 c.25308+117_25308+120delACAC 0.837859 0.8899 Uncertain 19_1809598_C->T 19 1809598 1809598 C T snp 3773.77 1/1 99 132 0 132 1.0 intronic rs9941464 ATP8B3 AU NM_001178002 exon26 c.26615-43C>T 0.330272 0.4712 0.232480 0.2848 0.5259 Uncertain 19_1809836_T->C 19 1809836 1809836 T C snp 1367.77 1/1 99 41 0 41 1.0 intronic rs8107742 ATP8B3 AU NM_001178002 exon26 c.26707+103T>C 0.848642 0.8929 Uncertain 19_1810399_A->G 19 1810399 1810399 A G snp 93.28 1/1 9 3 0 3 1.0 intronic rs2018612 ATP8B3 AU NM_001178002 exon27 c.27594-221A>G 0.853634 0.8929 Uncertain 19_1810605_T->C 19 1810605 1810605 T C snp 3940.77 1/1 99 138 0 138 1.0 intronic rs716993 ATP8B3 AU NM_001178002 exon27 c.27594-15T>C 0.853035 0.8859 0.852372 0.8338 0.8783 Uncertain 19_1811547_A->G 19 1811547 1811547 A G snp 3898.77 1/1 99 140 0 140 1.0 exonic rs12609187 ATP8B3 AU synonymous SNV NM_001178002 exon2 c.T30C p.P10P 0.829673 0.7758 0.858557 0.8245 0.7887 0.000 P -1.046 T Likely benign 19_1811603_C->T 19 1811603 1811603 C T snp 4943.77 1/1 99 186 0 186 1.0 exonic rs7250872 ATP8B3 AU nonsynonymous SNV NM_138813 exon2 c.G133A p.G45R 0.396166 0.374 0.350860 0.3454 0.4166 0.08 T 0.0 P -0.954 T 0.013 T 0.003 T Pathogenic 19_1817113_A->C 19 1817113 1817113 A C snp 429.77 1/1 33 11 0 11 1.0 intronic rs12976128 REXO1 AU NM_020695 exon5 c.1153-104A>C 0.307308 0.3819 Uncertain 19_1817134_-->CCAGATGGGG 19 1817134 1817134 - CCAGATGGGG indel 1914.73 1/1 48 16 0 16 1.0 intronic rs371332447 REXO1 AU NM_020695 exon5 c.1153-83insCCAGATGGGG 0.751398 0.7639 Uncertain 19_1817866_C->T 19 1817866 1817866 C T snp 440.77 1/1 33 15 0 15 1.0 intronic rs2304612 REXO1 AU NM_020695 exon6 c.1715+87C>T 0.358626 0.381 Uncertain 19_1818403_A->G 19 1818403 1818403 A G snp 99.28 1/1 9 3 0 3 1.0 intronic rs1610105 REXO1 AU NM_020695 exon7 c.2416-77A>G 0.797524 0.7688 Uncertain 19_1818459_A->G 19 1818459 1818459 A G snp 625.77 1/1 45 24 0 24 1.0 intronic rs1610106 REXO1 AU NM_020695 exon7 c.2416-21A>G 0.767173 0.7688 0.757719 0.7650 0.7987 Uncertain 19_1818952_C->G 19 1818952 1818952 C G snp 1734.77 1/1 99 62 0 62 1.0 intronic rs893538 REXO1 AU NM_020695 exon9 c.2952-64C>G 0.813299 0.7688 Uncertain 19_1819125_T->C 19 1819125 1819125 T C snp 3414.77 1/1 99 126 0 126 1.0 exonic rs2396359 REXO1 AU nonsynonymous SNV NM_020695 exon8 c.A2656G p.S886G 0.380791 0.3819 0.320686 0.2868 0.4280 0.2 T 0.098 P -0.981 T 0.067 T 0.016 T Pathogenic 19_1819912_C->A 19 1819912 1819912 C A snp 1057.77 0/1 99 97 48 49 0.51 intronic rs181016325 REXO1 AU NM_020695 exon10 c.3868-20C>A 0.00219649 0.0109 0.0013 0.0159 Uncertain 19_1821457_T->A 19 1821457 1821457 T A snp 1249.77 0/1 99 84 33 51 0.61 intronic rs117283114 REXO1 AU NM_020695 exon12 c.5453-60T>A 0.0145767 0.0714 Uncertain 19_1821637_A->G 19 1821637 1821637 A G snp 2989.77 1/1 99 105 0 105 1.0 exonic rs4807145 REXO1 AU nonsynonymous SNV NM_020695 exon5 c.T2275C p.S759P 0.764177 0.7649 0.761572 0.7429 0.7842 0.43 T 0.0 P -1.022 T 0.0 T 0.001 T Pathogenic 19_1825928_CTC->- 19 1825928 1825930 CTC - indel 4642.73 1/1 99 72 0 72 1.0 exonic rs149465929 REXO1 AU nonframeshift deletion NM_020695 exon3 c.1924_1926del p.642_642del 0.30012 0.3829 0.241933 0.2530 0.4233 ID=COSM1600367;OCCURENCE=1(central_nervous_system) Uncertain 19_1827565_A->G 19 1827565 1827565 A G snp 2363.77 0/1 99 166 70 96 0.58 exonic rs10415018 REXO1 AU nonsynonymous SNV NM_020695 exon2 c.T1223C p.V408A 0.246805 0.2629 0.177876 0.1724 0.3041 0.76 T 0.0 P -0.925 T 0.0 T 0.0 T Pathogenic 19_1848243_A->G 19 1848243 1848243 A G snp 968.77 1/1 69 40 0 40 1.0 exonic rs12984809 REXO1 AU nonsynonymous SNV NM_020695 exon1 c.T115C p.S39P 0.79373 0.7599 0.7375 1 0.49 T 0.000 P -1.034 T 0.0 T 0.0 T Pathogenic 19_1854451_G->A 19 1854451 1854451 G A snp 88.77 0/1 69 7 2 5 0.71 UTR3 rs3746044 KLF16 AU 0.00419329 0.0208 0.0011 0.0145 Uncertain 19_1854557_A->G 19 1854557 1854557 A G snp 324.77 0/1 99 32 19 13 0.41 exonic rs3746045 KLF16 AU synonymous SNV NM_031918 exon2 c.T660C p.P220P 0.423123 0.3829 0.328651 0.4124 0.5326 Uncertain 19_1863628_A->C 19 1863628 1863628 A C snp 143.03 1/1 12 5 0 5 1.0 upstream rs112570276 KLF16 AU 1 1 Uncertain 19_1880950_T->C 19 1880950 1880950 T C snp 815.77 0/1 99 97 58 39 0.4 exonic rs4807160 ABHD17A AU nonsynonymous SNV NM_031213 exon3 c.A430G p.K144E 0.63099 0.5913 0.633385 0.6274 0.6185 0.91 T 0.0 P -0.979 T 0.0 T 0.0 T Pathogenic 19_1905356_G->A 19 1905356 1905356 G A snp 996.77 0/1 99 110 63 47 0.43 upstream rs754066 ADAT3 AR 0.353435 0.3542 0.2637 0.3703 Uncertain 19_1905559_G->C 19 1905559 1905559 G C snp 286.77 0/1 99 37 23 14 0.38 intronic rs754065 ADAT3 AR 0.204073 0.2252 Uncertain 19_1908423_T->C 19 1908423 1908423 T C snp 327.77 0/1 99 29 16 13 0.45 intronic rs10408061 ADAT3 AR 0.362021 0.3681 0.2646 0.3545 Uncertain 19_1908694_C->T 19 1908694 1908694 C T snp 151.77 0/1 99 16 8 8 0.5 intronic rs4806818 ADAT3 AR 0.336661 0.3274 Uncertain 19_1912934_T->C 19 1912934 1912934 T C snp 2477.77 0/1 99 222 117 105 0.47 exonic rs12984675 ADAT3 AR synonymous SNV NM_138422 exon2 c.T888C p.T296T 0.363219 0.4038 0.246227 0.2555 0.4393 Uncertain 19_1912986_C->T 19 1912986 1912986 C T snp 1896.77 0/1 99 156 79 77 0.49 exonic rs76159002 ADAT3 AR synonymous SNV NM_138422 exon2 c.C940T p.L314L 0.237021 0.2252 0.173411 0.1720 0.2490 Uncertain 19_1914795_C->T 19 1914795 1914795 C T snp 111.77 0/1 69 9 3 6 0.67 intronic rs11666645 SCAMP4 AU 0.627196 0.6319 Uncertain 19_1914940_A->G 19 1914940 1914940 A G snp 2841.77 1/1 99 105 0 105 1.0 intronic rs11084918 SCAMP4 AU 0.881589 0.8819 0.915900 0.9061 0.8788 Uncertain 19_1915118_A->C 19 1915118 1915118 A C snp 767.77 1/1 57 24 0 24 1.0 intronic rs10853957 SCAMP4 AU NM_079834 exon2 c.7+93A>C 0.894569 0.8819 0.929260 Uncertain 19_1917925_T->C 19 1917925 1917925 T C snp 50.74 1/1 6 2 0 2 1.0 intronic rs10410479 SCAMP4 AU NM_079834 exon3 c.2803+104T>C 0.895567 0.8829 Uncertain 19_1918023_T->C 19 1918023 1918023 T C snp 688.77 1/1 51 19 0 19 1.0 intronic rs10415845 SCAMP4 AU NM_079834 exon4 c.3107-102T>C 0.882188 0.8829 Uncertain 19_1923385_T->C 19 1923385 1923385 T C snp 93.28 1/1 9 3 0 3 1.0 intronic rs4806820 SCAMP4 AU NM_079834 exon6 c.8168+199T>C 0.889377 0.8522 Uncertain 19_1924005_T->C 19 1924005 1924005 T C snp 470.77 1/1 36 14 0 14 1.0 intronic rs10526851 SCAMP4 AU NM_079834 exon7 c.9088-101T>C 0.675319 0.8056 Uncertain 19_1924050_T->C 19 1924050 1924050 T C snp 1966.77 1/1 99 63 0 63 1.0 intronic rs4807170 SCAMP4 AU NM_079834 exon7 c.9088-56T>C 0.439297 0.6855 Uncertain 19_1952812_A->G 19 1952812 1952812 A G snp 1788.77 0/1 99 146 74 72 0.49 ncRNA_exonic rs117450701 CSNK1G2-AS1 AU 0.0359425 0.0585 Uncertain 19_1952841_T->C 19 1952841 1952841 T C snp 1728.77 0/1 99 162 85 77 0.48 ncRNA_exonic rs2396366 CSNK1G2-AS1 AU 0.375 0.2976 0.466286 0.5596 0.3780 Uncertain 19_1953637_C->T 19 1953637 1953637 C T snp 309.77 0/1 99 18 6 12 0.67 ncRNA_intronic rs35628322 CSNK1G2-AS1 AU 0.345248 0.2927 Uncertain 19_1954126_-->A 19 1954126 1954126 - A indel 7209.73 1/1 99 165 0 165 1.0 ncRNA_exonic rs34622118 CSNK1G2-AS1 AU 0.500998 0.4752 Uncertain 19_1954128_T->C 19 1954128 1954128 T C snp 4326.77 1/1 99 151 0 151 1.0 ncRNA_exonic rs34797288 CSNK1G2-AS1 AU 0.501198 0.4752 Uncertain 19_1978397_G->C 19 1978397 1978397 G C snp 2055.77 0/1 99 152 65 87 0.57 intronic rs2277736 CSNK1G2 AU NM_001319 exon4 c.8669-43G>C 0.0233626 0.0446 0.012165 0.0265 0.0462 Uncertain 19_1978833_C->T 19 1978833 1978833 C T snp 2047.77 0/1 99 184 88 96 0.52 intronic rs2277737 CSNK1G2 AU NM_001319 exon6 c.9086-24C>T 0.024361 0.0446 0.012141 0.0299 0.0484 Uncertain 19_1990309_T->C 19 1990309 1990309 T C snp 105.77 0/1 64 6 2 4 0.67 intronic rs4807191 BTBD2 AU NM_017797 exon5 c.3714+109T>C 0.680711 0.7877 Uncertain 19_1990666_CCCGCCGAGGC->- 19 1990666 1990676 CCCGCCGAGGC - indel 2463.73 0/1 99 38 19 19 0.5 intronic rs150224120 BTBD2 AU NM_017797 exon6 c.4229-49_4229-39delCCCGCCGAGGC 0.0241613 0.0466 0.013891 0.0281 0.0594 Uncertain 19_1990825_G->A 19 1990825 1990825 G A snp 553.77 0/1 99 39 19 20 0.51 splicing rs8102506 BTBD2 AU NM_017797 exon6 c.4335+4G>A 0.240415 0.1716 0.228821 0.2005 0.2278 Pathogenic 19_1997363_A->G 19 1997363 1997363 A G snp 2014.77 0/1 99 160 73 87 0.54 exonic rs1610045 BTBD2 AU synonymous SNV NM_017797 exon2 c.T507C p.A169A 0.454673 0.4891 0.403506 0.3770 0.4594 Uncertain 19_2037846_A->C 19 2037846 2037846 A C snp 125.78 0/1 27 6 2 4 0.67 UTR3 rs1064543 MKNK2 AU 0.4310 0.5093 Uncertain 19_2040061_T->C 19 2040061 2040061 T C snp 4341.77 1/1 99 166 0 166 1.0 intronic rs56197957 MKNK2 AU NM_017572 exon2 c.2395-71T>C 0.238419 0.1677 0.274441 Uncertain 19_2041032_T->C 19 2041032 2041032 T C snp 4223.77 1/1 99 140 0 140 1.0 intronic rs2287003 MKNK2 AU NM_017572 exon3 c.3301-6T>C 0.717652 0.6806 0.658927 0.6062 0.6909 Uncertain 19_2042886_A->G 19 2042886 2042886 A G snp 2103.77 1/1 99 68 0 68 1.0 intronic rs7253052 MKNK2 AU NM_017572 exon7 c.5132+17A>G 0.714856 0.6806 0.655319 0.6456 0.7069 Uncertain 19_2043087_C->T 19 2043087 2043087 C T snp 1497.77 0/1 99 132 63 69 0.52 intronic rs144045684 MKNK2 AU NM_017572 exon8 c.5385-35C>T 0.00179712 0.0089 0.0007 0.0091 Uncertain 19_2043271_G->A 19 2043271 2043271 G A snp 2055.77 1/1 99 70 0 70 1.0 intronic rs2302585 MKNK2 AU NM_017572 exon8 c.5459+75G>A 0.427716 0.5327 Uncertain 19_2073466_T->C 19 2073466 2073466 T C snp 2834.77 0/1 99 249 131 118 0.47 intronic rs758145 MOB3A AU NM_130807 exon1 c.30+43T>C 0.50619 0.4137 0.502614 0.4414 0.4056 Uncertain 19_2078221_G->C 19 2078221 2078221 G C snp 1516.77 0/1 99 164 96 68 0.41 exonic rs11541046 MOB3A AU synonymous SNV NM_130807 exon3 c.C339G p.L113L 0.152756 0.0804 0.163924 0.1480 0.0910 Uncertain 19_2078409_A->G 19 2078409 2078409 A G snp 2645.77 0/1 99 206 95 111 0.54 exonic rs2074893 MOB3A AU synonymous SNV NM_130807 exon3 c.T151C p.L51L 0.407748 0.1964 0.444718 0.3496 0.2044 Uncertain 19_2078488_T->C 19 2078488 2078488 T C snp 2505.77 0/1 99 221 117 104 0.47 exonic rs2074894 MOB3A AU synonymous SNV NM_130807 exon3 c.A72G p.P24P 0.39397 0.1835 0.440181 0.3465 0.1935 Uncertain 19_2097832_C->T 19 2097832 2097832 C T snp 107.77 0/1 99 10 5 5 0.5 intronic rs12104154 IZUMO4 AU NM_001039846 exon4 c.983-95C>T 0.129193 0.0565 Uncertain 19_2097986_T->C 19 2097986 2097986 T C snp 3117.77 0/1 99 244 113 131 0.54 intronic rs7250336 IZUMO4 AU NM_001039846 exon4 c.1010+32T>C 0.243011 0.122 0.252191 0.2208 0.1468 Uncertain 19_2098015_T->C 19 2098015 2098015 T C snp 3402.77 0/1 99 250 119 131 0.52 intronic rs7253456 IZUMO4 AU NM_001039846 exon5 c.1106-35T>C 0.254593 0.2054 0.212627 0.2085 0.2415 Uncertain 19_2099109_G->T 19 2099109 2099109 G T snp 732.77 0/1 99 51 27 24 0.47 intronic rs2240649 IZUMO4 AU NM_001039846 exon9 c.2084+81G>T 0.303115 0.3978 Uncertain 19_2099111_T->G 19 2099111 2099111 T G snp 800.77 0/1 99 51 27 24 0.47 intronic rs12984606 IZUMO4 AU NM_001039846 exon9 c.2084+83T>G 0.298722 0.3552 Uncertain 19_2109019_T->C 19 2109019 2109019 T C snp 748.77 0/1 99 74 43 31 0.42 intronic rs2072306 AP3D1 AR NM_003938 exon3 c.6913-65T>C 0.326677 0.3343 Uncertain 19_2110019_T->C 19 2110019 2110019 T C snp 1018.77 0/1 99 74 37 37 0.5 intronic rs2074958 AP3D1 AR NM_003938 exon4 c.7786+62T>C 0.27496 0.3343 Uncertain 19_2110746_G->A 19 2110746 2110746 G A snp 775.77 0/1 99 65 32 33 0.51 exonic rs20567 AP3D1 AR synonymous SNV NM_001261826 exon27 c.C3135T p.S1045S 0.32508 0.3333 0.298637 0.3110 0.4318 Uncertain 19_2111649_T->C 19 2111649 2111649 T C snp 380.77 0/1 99 24 12 12 0.5 intronic rs2074959 AP3D1 AR NM_003938 exon8 c.9506-28T>C 0.326478 0.3363 0.268219 0.3212 0.4440 Uncertain 19_2113518_G->A 19 2113518 2113518 G A snp 147.77 0/1 99 25 16 9 0.36 intronic rs2240652 AP3D1 AR NM_001261826 exon10 c.11241+106G>A 0.114217 0.1419 Uncertain 19_2115493_A->G 19 2115493 2115493 A G snp 2271.77 0/1 99 210 107 103 0.49 intronic rs2066775 AP3D1 AR NM_003938 exon12 c.13365-43A>G 0.328874 0.3373 0.293681 0.2711 0.3944 Uncertain 19_2116281_T->C 19 2116281 2116281 T C snp 1517.77 0/1 99 120 61 59 0.49 splicing rs2240656 AP3D1 AR NM_003938 exon13 c.14106+4T>C 0.249401 0.3373 0.159787 0.1470 0.3987 Pathogenic 19_2116400_C->T 19 2116400 2116400 C T snp 1424.77 0/1 99 130 63 67 0.52 intronic rs9676693 AP3D1 AR NM_003938 exon13 c.14106+123C>T 0.326677 0.3373 Uncertain 19_2116466_G->C 19 2116466 2116466 G C snp 581.77 0/1 99 43 23 20 0.47 intronic rs734727 AP3D1 AR NM_003938 exon14 c.14432-137G>C 0.326677 0.3373 Uncertain 19_2116833_T->C 19 2116833 2116833 T C snp 461.77 0/1 99 28 10 18 0.64 intronic rs2240657 AP3D1 AR NM_003938 exon14 c.14574+88T>C 0.113618 0.1448 Uncertain 19_2119013_G->A 19 2119013 2119013 G A snp 333.78 1/1 27 9 0 9 1.0 intronic rs10408693 AP3D1 AR NM_003938 exon16 c.16660+182G>A 0.971446 1 Uncertain 19_2123516_A->G 19 2123516 2123516 A G snp 852.77 0/1 99 84 46 38 0.45 intronic rs2072304 AP3D1 AR NM_003938 exon20 c.21234+111A>G 0.191893 0.1419 Uncertain 19_2123712_G->C 19 2123712 2123712 G C snp 546.77 0/1 99 39 20 19 0.49 intronic rs2072305 AP3D1 AR NM_003938 exon21 c.21657-116G>C 0.276558 0.3353 Uncertain 19_2127272_A->G 19 2127272 2127272 A G snp 1632.77 0/1 99 137 67 70 0.51 intronic rs4807203 AP3D1 AR NM_003938 exon22 c.25029+72A>G 0.341653 0.3353 0.312308 Uncertain 19_2128975_C->T 19 2128975 2128975 C T snp 141.77 0/1 99 12 7 5 0.42 intronic rs576047925 AP3D1 AR NM_003938 exon23 c.26917-113C>T Uncertain 19_2128982_C->- 19 2128982 2128982 C - indel 139.73 0/1 99 15 9 6 0.4 intronic AP3D1 AR NM_003938 exon23 c.26917-106delC Uncertain 19_2128987_G->A 19 2128987 2128987 G A snp 282.77 0/1 99 21 11 10 0.48 intronic AP3D1 AR NM_003938 exon23 c.26917-101G>A Uncertain 19_2128989_C->A 19 2128989 2128989 C A snp 242.77 0/1 99 23 14 9 0.39 intronic rs58813039 AP3D1 AR NM_003938 exon23 c.26917-99C>A Uncertain 19_2137000_G->C 19 2137000 2137000 G C snp 1513.77 0/1 99 138 73 65 0.47 intronic rs61583847 AP3D1 AR NM_003938 exon27 c.34838-9G>C 0.101837 0.1468 0.047797 0.0949 0.2541 Uncertain 19_2137695_C->- 19 2137695 2137695 C - indel 761.73 0/1 99 49 25 24 0.49 intronic rs35577553 AP3D1 AR NM_003938 exon28 c.35554-30delC 0.053257 0.0556 0.1709 Uncertain 19_2138507_A->G 19 2138507 2138507 A G snp 164.77 0/1 55 8 2 6 0.75 intronic rs12460763 AP3D1 AR NM_003938 exon29 c.36446-110A>G 0.473642 0.4722 Uncertain 19_2138842_C->T 19 2138842 2138842 C T snp 310.77 0/1 99 22 12 10 0.45 intronic rs56694471 AP3D1 AR NM_003938 exon29 c.36542+129C>T 0.105631 0.1458 Uncertain 19_2189749_G->A 19 2189749 2189749 G A snp 2646.77 0/1 99 230 111 119 0.52 exonic rs150316325 DOT1L AU synonymous SNV NM_032482 exon4 c.G219A p.R73R 0.00179712 0.0079 0.002121 0.0031 0.0172 Uncertain 19_2190948_TGG->- 19 2190948 2190950 TGG - indel 877.73 0/1 99 32 14 18 0.56 intronic rs35301355 DOT1L AU NM_032482 exon5 c.26827-62_26827-60delTGG Uncertain 19_2194657_C->T 19 2194657 2194657 C T snp 212.77 0/1 99 17 10 7 0.41 intronic rs4807212 DOT1L AU NM_032482 exon7 c.30393+81C>T 0.326677 0.3224 Uncertain 19_2199814_C->T 19 2199814 2199814 C T snp 541.77 0/1 99 49 23 26 0.53 intronic rs117020388 DOT1L AU NM_032482 exon8 c.35699-68C>T 0.0111821 0.0506 Uncertain 19_2208859_T->C 19 2208859 2208859 T C snp 900.77 0/1 99 77 42 35 0.45 intronic rs2301799 DOT1L AU NM_032482 exon12 c.44750-74T>C 0.411342 0.4454 0.453789 Uncertain 19_2214057_C->T 19 2214057 2214057 C T snp 104.77 0/1 99 11 7 4 0.36 intronic rs2074552 DOT1L AU NM_032482 exon18 c.49802+72C>T 0.461661 0.4752 Uncertain 19_2221792_T->C 19 2221792 2221792 T C snp 71.77 0/1 99 6 3 3 0.5 intronic rs12462556 DOT1L AU NM_032482 exon24 c.57791-182T>C 0.286941 0.256 Uncertain 19_2223327_G->A 19 2223327 2223327 G A snp 2061.77 0/1 99 178 89 89 0.5 exonic rs2286329 DOT1L AU synonymous SNV NM_032482 exon25 c.G3438A p.P1146P 0.124002 0.122 0.077004 0.0601 0.1466 1.000 P -1.117 T Likely benign 19_2226728_C->G 19 2226728 2226728 C G snp 1511.77 0/1 99 147 80 67 0.46 exonic rs200561588 DOT1L AU nonsynonymous SNV NM_032482 exon27 c.C4208G p.T1403S 0.000399361 0.002 8.62e-05 0.0004 0 D 1 N -1.016 T 0.009 T 0.01 T Pathogenic 19_2226772_G->C 19 2226772 2226772 G C snp 1716.77 0/1 99 141 66 75 0.53 exonic rs2302061 DOT1L AU nonsynonymous SNV NM_032482 exon27 c.G4252C p.V1418L 0.255791 0.25 0.189426 0.1885 0.2832 0 D 0.0 P -0.908 T 0.0 T 0.0 T Pathogenic 19_2244903_T->G 19 2244903 2244903 T G snp 1679.77 1/1 99 48 0 48 1.0 intronic rs6510652 SF3A2 AU NM_007165 exon4 c.1361+125T>G 0.809904 0.7242 Uncertain 19_2247086_C->T 19 2247086 2247086 C T snp 489.77 0/1 99 22 8 14 0.64 intronic rs59357019 SF3A2 AU NM_007165 exon7 c.3604+65C>T 0.0890575 0.1151 Uncertain 19_2247733_C->T 19 2247733 2247733 C T snp 1251.77 0/1 99 140 84 56 0.4 intronic rs77542691 SF3A2 AU NM_007165 exon9 c.4348-32C>T 0.0621006 0.12 0.033682 0.0561 0.1408 Uncertain 19_2248020_G->A 19 2248020 2248020 G A snp 120.77 0/1 51 9 2 7 0.78 exonic rs60862139 SF3A2 AU synonymous SNV NM_007165 exon9 c.G870A p.P290P 0.0888578 0.119 0.038051 0.0672 0.1951 Uncertain 19_2248152_T->C 19 2248152 2248152 T C snp 68.77 0/1 97 11 8 3 0.27 exonic rs59267791 SF3A2 AU synonymous SNV NM_007165 exon9 c.T1002C p.P334P 0.104433 0.131 0.035672 0.1065 0.2434 Uncertain 19_2249477_G->T 19 2249477 2249477 G T snp 1351.77 0/1 99 96 40 56 0.58 exonic rs10407022 AMH AR nonsynonymous SNV NM_000479 exon1 c.G146T p.S49I 0.675919 0.5863 0.739452 0.7876 0.6450 0.04 T 0.0 P -0.951 T 0.838 T 0.367 P ID=CM081156;DIS=Follicle number, association with;TAG=DFP;PUB=18230658 DFP Pathogenic 19_2249583_G->A 19 2249583 2249583 G A snp 881.77 0/1 99 67 37 30 0.45 exonic rs61736572 AMH AR synonymous SNV NM_000479 exon1 c.G252A p.L84L 0.0595048 0.129 0.024571 0.0859 0.2051 Uncertain 19_2249634_G->A 19 2249634 2249634 G A snp 923.77 0/1 99 85 45 40 0.47 exonic rs61736575 AMH AR synonymous SNV NM_000479 exon1 c.G303A p.G101G 0.0638978 0.129 0.028859 0.1075 0.2239 Uncertain 19_2250236_G->A 19 2250236 2250236 G A snp 194.77 0/1 99 15 5 10 0.67 intronic rs77671243 AMH AR NM_000479 exon2 c.1004-99G>A 0.0698882 0.129 Uncertain 19_2251512_T->A 19 2251512 2251512 T A snp 1306.77 1/1 96 45 0 45 1.0 exonic rs7252789 AMH AR synonymous SNV NM_000479 exon5 c.T1239A p.G413G 0.91893 0.9683 0.8226 0.9211 Uncertain 19_2251817_T->C 19 2251817 2251817 T C snp 6527.77 1/1 99 223 0 223 1.0 exonic rs10417628 AMH AR nonsynonymous SNV NM_000479 exon5 c.T1544C p.V515A 0.990016 1 0.982016 0.9799 1 0.77 T 0.0 P -0.993 T 0.015 T 0.001 T Pathogenic 19_2252838_C->G 19 2252838 2252838 C G snp 1950.77 0/1 99 146 68 78 0.53 intronic rs199620290 JSRP1 AU NM_144616 exon1 c.468+43C>G 0.000399361 0.002 1.938e-05 0.0003 Uncertain 19_2255336_A->G 19 2255336 2255336 A G snp 415.77 0/1 99 22 9 13 0.59 UTR5 rs886363 JSRP1 AU 0.913339 0.9246 0.856944 0.8322 0.9114 Uncertain 19_2269829_C->T 19 2269829 2269829 C T snp 311.77 0/1 99 20 8 12 0.6 intronic rs4806836 OAZ1 AU NM_001301020 exon1 c.146+86C>T 0.275359 0.5516 Uncertain 19_2271282_T->C 19 2271282 2271282 T C snp 378.77 0/1 99 19 5 14 0.74 intronic rs2074457 OAZ1 AU NM_004152 exon2 c.1786-101T>C 0.787939 0.8948 Uncertain 19_2271323_A->G 19 2271323 2271323 A G snp 611.77 0/1 99 37 12 25 0.68 intronic rs2523175 OAZ1 AU NM_004152 exon2 c.1786-60A>G 0.898562 0.8948 Uncertain 19_2271578_T->- 19 2271578 2271578 T - indel 1114.73 0/1 99 77 43 34 0.44 intronic rs28384674 OAZ1 AU NM_001301020 exon2 c.1932+49delT 0.787939 0.8948 0.725954 0.7849 0.8838 Uncertain 19_2278508_A->G 19 2278508 2278508 A G snp 453.77 0/1 99 48 26 22 0.46 intronic rs78048915 C19orf35 AU NM_198532 exon2 c.2904-74A>G 0.229633 0.3631 Uncertain 19_2278509_T->C 19 2278509 2278509 T C snp 448.77 0/1 99 48 26 22 0.46 intronic rs12460882 C19orf35 AU NM_198532 exon2 c.2904-73T>C 0.229433 0.3631 Uncertain 19_2278755_C->T 19 2278755 2278755 C T snp 436.77 0/1 99 73 53 20 0.27 exonic rs73518414 C19orf35 AU nonsynonymous SNV NM_198532 exon3 c.G440A p.R147H 0.356629 0.5496 0.181933 0.2953 0.5488 0.01 T 0.0 P -0.970 T 0.001 T 0.001 T Pathogenic 19_2280796_C->A 19 2280796 2280796 C A snp 92.77 0/1 99 13 9 4 0.31 intronic rs12460518 C19orf35 AU NM_198532 exon3 c.5170-52C>A 0.109225 0.2847 0.0502 0.1869 Uncertain 19_2280885_G->A 19 2280885 2280885 G A snp 492.77 0/1 99 49 28 21 0.43 exonic rs55662626 C19orf35 AU nonsynonymous SNV NM_198532 exon2 c.C46T p.P16S 0.199481 0.3284 0.086371 0.1336 0.2968 0.22 T 0.0 P -0.913 T 0.936 T 0.475 D Pathogenic 19_2290499_C->T 19 2290499 2290499 C T snp 7746.77 1/1 99 250 0 250 1.0 exonic rs7258841 LINGO3 AU nonsynonymous SNV NM_001101391 exon2 c.G1277A p.R426H 0.28754 0.3363 0.3525 0.3958 0.67 T 0.083 P -1.003 T 0.005 T 0.007 T Pathogenic 19_2321854_C->G 19 2321854 2321854 C G snp 2131.77 1/1 99 79 0 79 1.0 intronic rs886881 LSM7 AU NM_016199 exon1 c.143+33C>G 0.558107 0.6944 0.375042 0.3852 0.6653 Uncertain 19_2321939_G->A 19 2321939 2321939 G A snp 733.77 1/1 54 28 0 28 1.0 intronic rs77028998 LSM7 AU NM_016199 exon1 c.143+118G>A 0.161741 0.2669 Uncertain 19_2324060_G->A 19 2324060 2324060 G A snp 133.77 0/1 99 13 7 6 0.46 intronic rs2302057 LSM7 AU NM_016199 exon2 c.2445-63G>A 0.195288 0.2252 Uncertain 19_2324113_-->C 19 2324113 2324113 - C indel 1281.73 0/1 99 96 53 43 0.45 intronic rs140121434 LSM7 AU NM_016199 exon2 c.2445-10insC 0.182708 0.2252 0.188687 0.2370 0.3786 Uncertain 19_2324384_A->G 19 2324384 2324384 A G snp 1219.77 1/1 90 32 1 31 0.97 intronic rs10404826 LSM7 AU NM_016199 exon2 c.2517+189A>G 0.628594 0.5595 Uncertain 19_2328281_G->A 19 2328281 2328281 G A snp 461.77 1/1 36 12 0 12 1.0 intronic rs11666344 LSM7 AU NM_016199 exon3 c.6707-104G>A 0.613618 0.5575 Uncertain 19_2337377_C->G 19 2337377 2337377 C G snp 2040.77 1/1 99 67 0 67 1.0 intronic rs3752204 SPPL2B AU NM_152988 exon3 c.8733-64C>G 0.979633 0.9673 Uncertain 19_2339693_A->G 19 2339693 2339693 A G snp 605.77 1/1 48 16 0 16 1.0 intronic rs10445607 SPPL2B AU NM_152988 exon6 c.11114-129A>G 0.980431 0.9702 Uncertain 19_2339949_T->C 19 2339949 2339949 T C snp 2758.77 0/1 99 225 110 115 0.51 exonic rs3746285 SPPL2B AU unknown 0.621006 0.3323 0.775601 0.6914 0.3734 Uncertain 19_2339958_T->C 19 2339958 2339958 T C snp 6260.77 1/1 99 217 0 217 1.0 exonic rs1609752 SPPL2B AU unknown 0.980032 0.9683 0.972082 0.9710 0.9754 Uncertain 19_2340050_C->T 19 2340050 2340050 C T snp 1549.77 0/1 99 127 65 62 0.49 intronic rs1609753 SPPL2B AU NM_152988 exon7 c.11366-24C>T 0.355631 0.6359 0.183396 0.3161 0.6807 Uncertain 19_2340154_-->C 19 2340154 2340154 - C indel 3662.73 1/1 99 92 0 92 1.0 exonic rs5826760 SPPL2B AU unknown 1 1 0.999752 0.9999 1 ID=COSM994061;OCCURENCE=1(endometrium) Uncertain 19_2340736_T->C 19 2340736 2340736 T C snp 204.84 1/1 18 6 0 6 1.0 intronic rs1609754 SPPL2B AU NM_152988 exon8 c.12187-159T>C 0.958866 0.9673 Uncertain 19_2341047_C->T 19 2341047 2341047 C T snp 2193.77 0/1 99 204 106 98 0.48 intronic rs55818311 SPPL2B AU NM_152988 exon8 c.12304+35C>T 0.528754 0.3403 0.659348 0.6224 0.3343 Uncertain 19_2341059_G->A 19 2341059 2341059 G A snp 2080.77 0/1 99 197 97 100 0.51 intronic rs11880345 SPPL2B AU NM_152988 exon8 c.12304+47G>A 0.56889 0.5615 0.598388 0.6603 0.5569 Uncertain 19_2341060_T->C 19 2341060 2341060 T C snp 5005.77 1/1 99 197 0 197 1.0 intronic rs7245824 SPPL2B AU NM_152988 exon8 c.12304+48T>C 0.986422 0.996 0.970321 0.9673 1 Uncertain 19_2341094_CTCCCTGGA->- 19 2341094 2341102 CTCCCTGGA - indel 6758.73 0/1 99 174 91 83 0.48 intronic rs547300749 SPPL2B AU NM_152988 exon8 c.12304+82_12304+90delCTCCCTGGA Uncertain 19_2341103_G->A 19 2341103 2341103 G A snp 1438.77 0/1 99 151 87 64 0.42 intronic rs745964036 SPPL2B AU NM_152988 exon8 c.12304+91G>A 9.448e-05 0 Uncertain 19_2341301_G->A 19 2341301 2341301 G A snp 1710.77 0/1 99 160 87 73 0.46 intronic rs147464402 SPPL2B AU NM_152988 exon8 c.12304+289G>A 0.0383387 0.0565 0.0230 0.075 Uncertain 19_2343142_G->A 19 2343142 2343142 G A snp 457.77 0/1 99 49 29 20 0.41 intronic rs3746289 SPPL2B AU NM_152988 exon9 c.14500-66G>A 0.370008 0.6359 Uncertain 19_2344022_G->A 19 2344022 2344022 G A snp 108.77 0/1 99 22 15 7 0.32 exonic rs1128392 SPPL2B AU unknown 0.104034 0.2262 0.036581 0.0796 0.2363 Uncertain 19_2351702_G->A 19 2351702 2351702 G A snp 1105.77 0/1 99 74 31 43 0.58 intronic rs3746290 SPPL2B AU NM_001077238 exon14 c.22947+47G>A 0.0403355 0.0575 Uncertain 19_2353150_C->A 19 2353150 2353150 C A snp 1066.77 0/1 99 98 51 47 0.48 exonic rs1128402 SPPL2B AU unknown 0.345647 0.6538 0.186177 0.2832 0.6612 Uncertain 19_2382368_G->A 19 2382368 2382368 G A snp 43.77 0/1 70 4 2 2 0.5 intergenic rs7260028 SPPL2B AU 0.453874 0.619 Uncertain 19_2382603_-->ACAC 19 2382603 2382603 - ACAC indel 4105.73 0/1 99 156 66 90 0.58 intergenic rs145510194 SPPL2B AU Uncertain 19_2382679_ACAC->- 19 2382679 2382682 ACAC - indel 701.73 0/1 99 33 13 20 0.61 intergenic rs148093377 SPPL2B AU Uncertain 19_2389872_G->C 19 2389872 2389872 G C snp 2437.77 0/1 99 220 109 111 0.5 exonic rs891174 TMPRSS9 AU nonsynonymous SNV NM_182973 exon1 c.G89C p.S30T 0.583466 0.4474 0.649085 0.6218 0.4283 0.37 T 0.0 P -0.945 T 0.0 T 0.0 T Pathogenic 19_2389954_G->A 19 2389954 2389954 G A snp 1281.77 0/1 99 123 70 53 0.43 intronic rs891175 TMPRSS9 AU NM_182973 exon1 c.142+29G>A 0.584065 0.4474 0.650392 0.6208 0.4263 Uncertain 19_2389958_T->A 19 2389958 2389958 T A snp 1255.77 0/1 99 122 70 52 0.43 intronic rs891176 TMPRSS9 AU NM_182973 exon1 c.142+33T>A 0.584065 0.4474 0.650238 0.6205 0.4263 Uncertain 19_2396556_C->T 19 2396556 2396556 C T snp 2779.77 1/1 99 103 0 103 1.0 exonic rs7252886 TMPRSS9 AU synonymous SNV NM_182973 exon2 c.C162T p.G54G 0.430711 0.504 0.342380 0.3909 0.5789 Uncertain 19_2396611_C->T 19 2396611 2396611 C T snp 2611.77 1/1 99 102 0 102 1.0 exonic rs17685098 TMPRSS9 AU nonsynonymous SNV NM_182973 exon2 c.C217T p.R73W 0.389377 0.504 0.294448 0.3590 0.5664 0.01 T 0.016 P -0.986 T 0.997 D 0.817 D Pathogenic 19_2398849_A->G 19 2398849 2398849 A G snp 3614.77 1/1 99 128 0 128 1.0 intronic rs10407225 TMPRSS9 AU NM_182973 exon3 c.9266-200A>G 0.530351 0.5823 0.3760 0.6587 Uncertain 19_2405641_C->T 19 2405641 2405641 C T snp 3200.06 1/1 99 116 0 116 1.0 intronic rs4807260 TMPRSS9 AU NM_182973 exon6 c.15760+98C>T 0.658946 0.6409 Uncertain 19_2410484_G->A 19 2410484 2410484 G A snp 2570.77 1/1 99 89 0 89 1.0 intronic rs4806846 TMPRSS9 AU NM_182973 exon8 c.20609+92G>A 0.152756 0.2411 Uncertain 19_2417933_C->T 19 2417933 2417933 C T snp 109.77 0/1 99 14 8 6 0.43 intronic rs144934932 TMPRSS9 AU NM_182973 exon12 c.28216-66C>T 0.00179712 0.0079 Uncertain 19_2426828_G->C 19 2426828 2426828 G C snp 2213.77 1/1 99 76 0 76 1.0 UTR3 rs6945 TIMM13 AU 0.649361 0.6409 Uncertain 19_2433890_A->G 19 2433890 2433890 A G snp 7067.77 1/1 99 245 0 245 1.0 exonic rs11084940 LMNB2 AR,AD synonymous SNV NM_032737 exon8 c.T1416C p.G472G 0.63758 0.6349 0.571055 0.5461 0.6427 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000117495.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 19_2514967_AG->- 19 2514967 2514968 AG - indel 252.73 0/1 99 19 11 8 0.42 UTR3 rs34865250 GNG7 AU 0.305112 0.3472 Uncertain 19_2520472_G->C 19 2520472 2520472 G C snp 133.03 1/1 12 4 0 4 1.0 intronic rs3764583 GNG7 AU NM_052847 exon2 c.5586-133G>C 0.567492 0.5694 Uncertain 19_2520716_T->C 19 2520716 2520716 T C snp 1773.77 1/1 99 67 0 67 1.0 UTR5 rs1133692 GNG7 AU 0.566494 0.5694 0.594467 0.5842 0.6038 Uncertain 19_2520791_C->A 19 2520791 2520791 C A snp 439.77 1/1 33 16 0 16 1.0 intronic rs3764585 GNG7 AU NM_052847 exon2 c.5704+68C>A 0.566494 0.5694 Uncertain 19_2524477_T->C 19 2524477 2524477 T C snp 1378.77 0/1 99 111 55 56 0.5 intronic rs4807289 GNG7 AU NM_052847 exon2 c.5704+3754T>C 0.571086 0.6716 Uncertain 19_2538074_-->AAACAAAACA 19 2538074 2538074 - AAACAAAACA indel 1355.73 ./1 99 14 0 14 1.0 intronic rs71337145 GNG7 AU NM_052847 exon3 c.40127-17072insAAACAAAACA 0.0242 0.0274 Uncertain 19_2538074_-->AAACA 19 2538074 2538074 - AAACA indel 1355.73 ./1 99 14 0 14 1.0 intronic rs398071131 GNG7 AU NM_052847 exon3 c.40127-17072insAAACA 0.692093 0.9147 0.6025 0.8973 Uncertain 19_2538140_C->T 19 2538140 2538140 C T snp 582.77 0/1 99 58 28 30 0.52 intronic rs2072348 GNG7 AU NM_052847 exon3 c.40127-17006C>T 0.0998403 0.2302 0.0360 0.2020 Uncertain 19_2538760_A->T 19 2538760 2538760 A T snp 581.77 0/1 99 63 38 25 0.4 intronic rs7250546 GNG7 AU NM_052847 exon3 c.40127-16386A>T 0.463259 0.2827 0.4243 0.2376 0.18 T 0.0 P -0.968 T Uncertain 19_2538808_C->T 19 2538808 2538808 C T snp 141.77 0/1 99 14 9 5 0.36 intronic rs142216309 GNG7 AU NM_052847 exon3 c.40127-16338C>T 0.185503 0.2679 0.1610 0.2652 Uncertain 19_2557392_C->G 19 2557392 2557392 C G snp 2252.77 1/1 99 89 0 89 1.0 intronic rs10421267 GNG7 AU NM_052847 exon3 c.40167+2206C>G 0.528954 0.4544 Uncertain 19_2576272_T->C 19 2576272 2576272 T C snp 1851.77 1/1 99 54 0 54 1.0 intronic rs1029753 GNG7 AU NM_052847 exon3 c.40167+21086T>C 0.882188 0.998 Uncertain 19_2643436_C->T 19 2643436 2643436 C T snp 519.77 0/1 99 187 141 46 0.25 intronic rs7247161 GNG7 AU NM_052847 exon4 c.131202-2785C>T Uncertain 19_2643563_C->T 19 2643563 2643563 C T snp 82.77 0/1 99 155 127 28 0.18 intronic rs8101531 GNG7 AU NM_052847 exon4 c.131202-2658C>T 0.0064 0.0253 Uncertain 19_2717256_C->G 19 2717256 2717256 C G snp 1022.77 0/1 99 114 75 39 0.34 exonic rs3745812 DIRAS1 AU synonymous SNV NM_145173 exon2 c.G549C p.G183G 0.197284 0.494 0.112983 0.1844 0.5038 Uncertain 19_2717880_A->G 19 2717880 2717880 A G snp 324.77 0/1 99 32 19 13 0.41 intronic rs7343093 DIRAS1 AU NM_145173 exon1 c.666+7A>G 0.679113 0.626 0.6897 0.6746 Uncertain 19_2732741_G->A 19 2732741 2732741 G A snp 458.77 0/1 99 44 24 20 0.45 UTR3 rs9160 SLC39A3 AU 0.172524 0.3294 0.096700 0.1296 0.3525 Uncertain 19_2732986_T->C 19 2732986 2732986 T C snp 1817.77 0/1 99 130 63 67 0.52 exonic rs759073 SLC39A3 AU synonymous SNV NM_144564 exon3 c.A708G p.V236V 0.625399 0.6468 0.581855 0.5234 0.6471 Uncertain 19_2755339_G->A 19 2755339 2755339 G A snp 2081.77 0/1 99 190 99 91 0.48 UTR3 rs2238614 SGTA AU 0.277556 0.5198 Uncertain 19_2759107_A->G 19 2759107 2759107 A G snp 81.77 0/1 99 13 9 4 0.31 intronic rs9304899 SGTA AU NM_003021 exon4 c.1914-147A>G 0.499201 0.6488 Uncertain 19_2759513_C->T 19 2759513 2759513 C T snp 143.77 0/1 50 7 2 5 0.71 intronic rs12459369 SGTA AU NM_003021 exon4 c.1952+221C>T 0.422724 0.6637 Uncertain 19_2761358_G->A 19 2761358 2761358 G A snp 171.77 0/1 99 20 14 6 0.3 intronic rs3745814 SGTA AU NM_003021 exon5 c.4117-99G>A 0.254593 0.5169 Uncertain 19_2761603_C->T 19 2761603 2761603 C T snp 969.77 0/1 99 100 56 44 0.44 intronic rs3745815 SGTA AU NM_003021 exon5 c.4180+83C>T 0.253594 0.5169 Uncertain 19_2762395_C->T 19 2762395 2762395 C T snp 189.77 0/1 99 12 6 6 0.5 intronic rs45459194 SGTA AU NM_003021 exon6 c.5163-108C>T 0.208267 0.4246 Uncertain 19_2762585_A->C 19 2762585 2762585 A C snp 1098.77 0/1 99 198 141 57 0.29 exonic rs2302491 SGTA AU synonymous SNV NM_003021 exon7 c.T555G p.A185A 0.478035 0.6647 0.336306 0.3302 0.6441 Uncertain 19_2765328_G->C 19 2765328 2765328 G C snp 345.77 0/1 99 20 8 12 0.6 intronic rs2302494 SGTA AU NM_003021 exon8 c.7943+45G>C 0.340256 0.5179 0.254310 0.2205 0.4758 Uncertain 19_2767192_G->T 19 2767192 2767192 G T snp 602.77 0/1 99 69 38 31 0.45 exonic rs1128925 SGTA AU synonymous SNV NM_003021 exon4 c.C234A p.P78P 0.282548 0.5169 0.202139 0.2700 0.5108 Uncertain 19_2790394_G->A 19 2790394 2790394 G A snp 669.77 0/1 99 48 25 23 0.48 intronic rs1736176 THOP1 AU NM_003249 exon2 c.4758-24G>A 0.364617 0.4911 0.332231 0.3297 0.4888 Uncertain 19_2796021_G->A 19 2796021 2796021 G A snp 1512.77 0/1 99 119 53 66 0.55 intronic rs1736180 THOP1 AU NM_003249 exon4 c.10418-57G>A 0.361422 0.4911 0.3427 0.5003 Uncertain 19_2810248_G->A 19 2810248 2810248 G A snp 300.77 0/1 99 32 17 15 0.47 intronic rs1736184 THOP1 AU NM_003249 exon10 c.24641-53G>A 0.350839 0.502 Uncertain 19_2811788_T->C 19 2811788 2811788 T C snp 172.77 0/1 99 18 10 8 0.44 intronic rs2004186 THOP1 AU NM_003249 exon12 c.26072+56T>C Uncertain 19_2812153_A->G 19 2812153 2812153 A G snp 3166.77 0/1 99 250 115 135 0.54 intronic rs941407 THOP1 AU NM_003249 exon12 c.26072+421A>G 0.456669 0.4881 0.4842 0.5833 Uncertain 19_2813000_A->G 19 2813000 2813000 A G snp 461.77 0/1 99 38 23 15 0.39 intronic rs1736185 THOP1 AU NM_003249 exon13 c.27452-112A>G 0.454073 0.4881 Uncertain 19_2820105_G->A 19 2820105 2820105 G A snp 118.77 0/1 99 12 6 6 0.5 exonic rs2537856 ZNF554 AU synonymous SNV NM_001102651 exon1 c.G36A p.R12R 0.362819 0.4246 0.5833 0.5 Uncertain 19_2823257_C->A 19 2823257 2823257 C A snp 489.77 0/1 99 32 16 16 0.5 intronic rs6510702 ZNF554 AU NM_001102651 exon2 c.3041+147C>A 0.43111 0.2996 Uncertain 19_2823258_T->C 19 2823258 2823258 T C snp 439.77 0/1 99 32 16 16 0.5 intronic rs6510703 ZNF554 AU NM_001102651 exon2 c.3041+148T>C 0.43111 0.2996 Uncertain 19_2823269_G->A 19 2823269 2823269 G A snp 406.77 0/1 99 26 12 14 0.54 intronic rs6510704 ZNF554 AU NM_001102651 exon2 c.3041+159G>A 0.438698 0.2966 Uncertain 19_2833562_A->G 19 2833562 2833562 A G snp 594.77 0/1 99 32 14 18 0.56 intronic rs17685286 ZNF554 AU NM_001102651 exon5 c.13609-116A>G 0.11242 0.2173 Uncertain 19_2833576_G->A 19 2833576 2833576 G A snp 1346.77 1/1 99 40 0 40 1.0 intronic rs8107668 ZNF554 AU NM_001102651 exon5 c.13609-102G>A 0.516573 0.5575 Uncertain 19_2833617_G->A 19 2833617 2833617 G A snp 2706.77 1/1 99 97 0 97 1.0 intronic rs8107771 ZNF554 AU NM_001102651 exon5 c.13609-61G>A 0.516573 0.5575 Uncertain 19_2834808_T->C 19 2834808 2834808 T C snp 2657.77 0/1 99 209 95 114 0.55 exonic rs8102063 ZNF554 AU synonymous SNV NM_001102651 exon5 c.T1575C p.C525C 0.394169 0.3413 0.427682 0.4455 0.3416 Uncertain 19_2841360_G->A 19 2841360 2841360 G A snp 491.77 0/1 99 49 29 20 0.41 upstream rs1006717 ZNF555 AU 0.395966 0.3403 Uncertain 19_2851678_A->T 19 2851678 2851678 A T snp 1812.77 0/1 99 134 54 80 0.6 intronic rs11880407 ZNF555 AU NM_001172775 exon3 c.10079+29A>T 0.405751 0.3353 0.430955 0.4385 0.3424 Uncertain 19_2853566_A->G 19 2853566 2853566 A G snp 6543.77 1/1 99 238 1 237 1.0 exonic rs10412087 ZNF555 AU synonymous SNV NM_001172775 exon4 c.A1500G p.R500R 0.876198 0.999 0.811318 0.8718 0.9999 Uncertain 19_2867583_C->A 19 2867583 2867583 C A snp 248.8 1/1 21 9 0 9 1.0 intronic rs8104536 ZNF556 AU NM_024967 exon1 c.3+161C>A 0.818091 0.999 Uncertain 19_2873323_C->T 19 2873323 2873323 C T snp 54.74 1/1 6 2 0 2 1.0 intronic rs1558360 ZNF556 AU NM_024967 exon2 c.6074-170C>T 0.374401 0.8234 Uncertain 19_2877597_G->A 19 2877597 2877597 G A snp 1308.77 0/1 99 104 50 54 0.52 exonic rs61033781 ZNF556 AU nonsynonymous SNV NM_001300843 exon4 c.G638A p.R213H 0.0101837 0.002 0.008842 0.0029 0.0027 0.57 T 1 N -0.999 T 0.982 D 0.776 D Pathogenic 19_2878397_A->G 19 2878397 2878397 A G snp 1367.77 1/1 99 40 0 40 1.0 UTR3 rs11084965 ZNF556 AU 0.629393 0.7788 Uncertain 19_2896818_C->T 19 2896818 2896818 C T snp 3920.77 1/1 99 150 0 150 1.0 intergenic rs8100809 ZNF556 AU 0.793131 0.8403 0.8312 0.8396 0.33 T -1.024 T Uncertain 19_2896948_T->C 19 2896948 2896948 T C snp 3504.77 1/1 99 123 0 123 1.0 intergenic rs8104326 ZNF556 AU 0.755192 0.7669 0.8432 0.8688 0.02 T -1.043 T Uncertain 19_2896953_A->G 19 2896953 2896953 A G snp 3267.77 1/1 99 119 0 119 1.0 intergenic rs8101379 ZNF556 AU 0.820687 0.7669 0.8905 0.8735 1 T -0.963 T Uncertain 19_2900841_G->A 19 2900841 2900841 G A snp 54.74 1/1 6 2 0 2 1.0 upstream rs12979208 ZNF57 AU 0.745607 0.7212 Uncertain 19_2900865_G->A 19 2900865 2900865 G A snp 182.9 1/1 15 5 0 5 1.0 upstream rs10420989 ZNF57 AU 0.842252 0.7202 Uncertain 19_2900915_G->A 19 2900915 2900915 G A snp 554.03 1/1 12 19 1 18 0.95 UTR5 rs7255359 ZNF57 AU 0.464058 0.6409 Uncertain 19_2900916_A->T 19 2900916 2900916 A T snp 573.03 1/1 12 19 1 18 0.95 UTR5 rs7256762 ZNF57 AU 0.464058 0.6409 Uncertain 19_2900930_C->T 19 2900930 2900930 C T snp 887.77 1/1 66 32 0 32 1.0 UTR5 rs12981209 ZNF57 AU 0.745208 0.7192 Uncertain 19_2901115_GCCGAAGTCT->- 19 2901115 2901124 GCCGAAGTCT - indel 3921.73 1/1 93 42 0 42 1.0 intronic rs11279103 ZNF57 AU NM_173480 exon1 c.3+69_3+78delGCCGAAGTCT 0.745407 0.7212 Uncertain 19_2915738_T->A 19 2915738 2915738 T A snp 1621.77 0/1 99 140 70 70 0.5 intronic rs2043336 ZNF57 AU NM_173480 exon2 c.14603+92T>A 0.792732 0.7063 0.8468 0.7196 0.0 P Uncertain 19_2916048_T->A 19 2916048 2916048 T A snp 1170.77 0/1 99 114 68 46 0.4 intronic rs2043335 ZNF57 AU NM_173480 exon3 c.15032-27T>A 0.892572 0.7063 0.974320 0.9416 0.7103 Uncertain 19_2917186_T->C 19 2917186 2917186 T C snp 1753.77 0/1 99 169 97 72 0.43 exonic rs2288959 ZNF57 AU synonymous SNV NM_173480 exon4 c.T567C p.T189T 0.813698 0.7063 0.856374 0.8691 0.7099 Uncertain 19_2917287_C->A 19 2917287 2917287 C A snp 2108.77 0/1 99 182 89 93 0.51 exonic rs2288958 ZNF57 AU nonsynonymous SNV NM_173480 exon4 c.C668A p.T223N 0.468251 0.631 0.388205 0.4831 0.6389 0.02 T 0.0 P -0.962 T 0.002 T 0.003 T Pathogenic 19_2917612_T->C 19 2917612 2917612 T C snp 1790.77 0/1 99 147 76 71 0.48 exonic rs10410539 ZNF57 AU synonymous SNV NM_173480 exon4 c.T993C p.T331T 0.784944 0.7083 0.829310 0.8408 0.7108 Uncertain 19_2917689_C->T 19 2917689 2917689 C T snp 1896.77 0/1 99 159 80 79 0.5 exonic rs55682587 ZNF57 AU nonsynonymous SNV NM_173480 exon4 c.C1070T p.T357M 0.0816693 0.1349 0.016761 0.0578 0.0942 0.06 T 0.0 P -1.068 T 1.0 D 0.947 D Pathogenic 19_2933480_C->T 19 2933480 2933480 C T snp 212.77 0/1 99 18 11 7 0.39 UTR3 rs3786948 ZNF77 AU 0.667732 0.5784 0.743042 0.7784 0.5375 Uncertain 19_2934282_T->C 19 2934282 2934282 T C snp 958.77 0/1 99 77 38 39 0.51 exonic rs3746073 ZNF77 AU synonymous SNV NM_021217 exon4 c.A843G p.S281S 0.839657 0.5804 0.944641 0.8904 0.5384 Uncertain 19_2936443_A->G 19 2936443 2936443 A G snp 127.77 0/1 99 15 9 6 0.4 intronic rs7251272 ZNF77 AU NM_021217 exon2 c.3035-78A>G 0.835463 0.5774 Uncertain 19_2936623_C->T 19 2936623 2936623 C T snp 650.77 0/1 99 74 46 28 0.38 exonic rs4807371 ZNF77 AU synonymous SNV NM_021217 exon3 c.G210A p.E70E 0.842851 0.5774 0.950254 0.8894 0.5361 Uncertain 19_2978135_G->C 19 2978135 2978135 G C snp 2838.77 1/1 99 98 0 98 1.0 intronic rs445657 TLE6 AR 0.776957 0.9891 Uncertain 19_2980269_G->A 19 2980269 2980269 G A snp 107.77 0/1 99 10 5 5 0.5 intronic rs4807380 TLE6 AR NM_001143986 exon3 c.1949+89G>A 0.296326 0.3323 Uncertain 19_2981487_G->C 19 2981487 2981487 G C snp 811.77 0/1 99 80 46 34 0.42 intronic rs10407929 TLE6 AR NM_001143986 exon4 c.3304-48G>C 0.353235 0.3343 0.4447 0.3376 Uncertain 19_2989810_G->T 19 2989810 2989810 G T snp 721.77 0/1 99 89 53 36 0.4 intronic rs504199 TLE6 AR NM_024760 exon12 c.2719+27G>T 0.529553 0.5149 0.543826 0.4746 0.4784 Uncertain 19_2991814_T->C 19 2991814 2991814 T C snp 5489.77 1/1 99 209 0 209 1.0 intronic rs428113 TLE6 AR NM_024760 exon13 c.4776-26T>C 0.97524 1 0.976319 0.9708 0.9995 Uncertain 19_2993427_T->C 19 2993427 2993427 T C snp 886.77 0/1 99 82 44 38 0.46 splicing rs435806 TLE6 AR NM_024760 exon14 c.6365-2T>C 0.466454 0.5278 0.386360 0.3356 0.5209 Pathogenic 19_2993946_G->A 19 2993946 2993946 G A snp 529.77 1/1 42 18 0 18 1.0 intronic rs35271493 TLE6 AR NM_024760 exon15 c.6952-70G>A 0.668131 0.9732 Uncertain 19_2994107_-->T 19 2994107 2994107 - T indel 896.73 1/1 69 25 0 25 1.0 intronic rs34438430 TLE6 AR NM_024760 exon15 c.7029+14insT 0.740216 0.9712 0.709958 0.8142 0.9819 Uncertain 19_2994814_T->C 19 2994814 2994814 T C snp 2125.77 1/1 99 70 0 70 1.0 intronic rs439808 TLE6 AR NM_024760 exon16 c.7833-83T>C 1 1 Uncertain 19_2994837_A->G 19 2994837 2994837 A G snp 2449.77 1/1 99 90 0 90 1.0 intronic rs401886 TLE6 AR NM_024760 exon16 c.7833-60A>G 0.888379 0.9583 Uncertain 19_2994903_T->C 19 2994903 2994903 T C snp 2387.77 1/1 99 98 0 98 1.0 exonic rs34831575 TLE6 AR synonymous SNV NM_024760 exon16 c.T1251C p.P417P 0.317093 0.3353 0.266497 0.2928 0.3734 0.998 P Uncertain 19_2994921_G->A 19 2994921 2994921 G A snp 2551.77 1/1 99 101 0 101 1.0 exonic rs34551565 TLE6 AR synonymous SNV NM_024760 exon16 c.G1269A p.T423T 0.290735 0.3343 0.248424 0.2806 0.3763 Uncertain 19_2995054_-->CC 19 2995054 2995054 - CC indel 339.73 0/1 99 25 9 16 0.64 UTR3 rs144994820 TLE6 AR 0.0124 0.0608 Uncertain 19_2997897_G->A 19 2997897 2997897 G A snp 1065.77 0/1 99 90 42 48 0.53 exonic rs11150 TLE2 AU synonymous SNV NM_001144762 exon18 c.C1815T p.I605I 0.173922 0.248 0.135296 0.1802 0.2846 Uncertain 19_3006236_-->AT 19 3006236 3006236 - AT indel 2439.73 1/1 99 45 0 45 1.0 intronic rs3050847 TLE2 AU NM_001144761 exon5 c.8496-181insAT 0.670527 0.7173 Uncertain 19_3006274_C->T 19 3006274 3006274 C T snp 716.77 1/1 57 19 0 19 1.0 intronic rs83488 TLE2 AU NM_001144761 exon5 c.8496-143C>T 0.877995 0.9593 Uncertain 19_3009788_T->C 19 3009788 3009788 T C snp 1038.77 1/1 75 32 0 32 1.0 intronic rs216284 TLE2 AU NM_001144761 exon7 c.11779+88T>C 0.832069 0.9603 Uncertain 19_3013616_G->A 19 3013616 3013616 G A snp 278.77 0/1 99 18 6 12 0.67 intronic rs216271 TLE2 AU NM_001144761 exon9 c.15745-50G>A 0.498602 0.3224 0.469997 Uncertain 19_3014639_A->G 19 3014639 3014639 A G snp 1767.77 0/1 99 153 74 79 0.52 intronic rs216273 TLE2 AU NM_001144761 exon10 c.16691+27A>G 0.347444 0.2728 0.308624 0.2764 0.3199 Uncertain 19_3014647_C->A 19 3014647 3014647 C A snp 1587.77 0/1 99 149 78 71 0.48 intronic rs1844880 TLE2 AU NM_001144761 exon10 c.16691+35C>A 0.376997 0.6369 0.353027 0.4629 0.6390 Uncertain 19_3019986_T->G 19 3019986 3019986 T G snp 236.77 0/1 99 12 4 8 0.67 intronic rs59931576 TLE2 AU NM_001144761 exon14 c.21850+215T>G 0.202676 0.3552 Uncertain 19_3056285_G->C 19 3056285 3056285 G C snp 125.78 0/1 25 6 1 5 0.83 intronic rs58280427 AES AU NM_001130 exon4 c.2493-24G>C 0.391573 0.5149 0.317244 0.3479 0.5889 Uncertain 19_3062693_C->T 19 3062693 3062693 C T snp 237.77 0/1 99 12 4 8 0.67 splicing rs145188743 AES AU NM_198969 exon7 c.8881-4C>T 0.0267572 0.0536 0.0974 0.0727 Pathogenic 19_3062857_T->C 19 3062857 3062857 T C snp 1324.77 0/1 99 147 80 67 0.46 exonic rs11539938 AES AU synonymous SNV NM_198969 exon1 c.A69G p.L23L 0.385383 0.5169 0.350798 0.4016 0.5742 Uncertain 19_3062986_C->G 19 3062986 3062986 C G snp 86.77 0/1 99 16 12 4 0.25 upstream rs56193569 AES AU 0.277955 0.4504 Uncertain 19_3110349_T->G 19 3110349 3110349 T G snp 3154.77 0/1 99 226 89 137 0.61 intronic rs11085000 GNA11 AD NM_002067 exon2 c.15682+18T>G 0.344249 0.4048 0.366077 0.4198 0.4145 Uncertain 19_3110487_A->G 19 3110487 3110487 A G snp 164.77 0/1 99 18 12 6 0.33 intronic rs7257368 GNA11 AD NM_002067 exon2 c.15682+156A>G 0.214657 0.1746 Uncertain 19_3113305_G->C 19 3113305 3113305 G C snp 1755.77 1/1 99 56 0 56 1.0 intronic rs1682811 GNA11 AD NM_002067 exon3 c.18678-22G>C 0.835663 0.7659 0.874885 0.8500 0.7660 Uncertain 19_3114864_C->T 19 3114864 3114864 C T snp 1423.77 0/1 99 115 57 58 0.5 intronic rs3746069 GNA11 AD NM_002067 exon4 c.20292-77C>T 0.169928 0.252 Uncertain 19_3115124_C->T 19 3115124 3115124 C T snp 1717.77 0/1 99 120 56 64 0.53 intronic rs10407783 GNA11 AD NM_002067 exon4 c.20421+54C>T 0.183107 0.1746 Uncertain 19_3119184_T->G 19 3119184 3119184 T G snp 3341.77 1/1 99 99 0 99 1.0 intronic rs308046 GNA11 AD NM_002067 exon6 c.24554-19T>G 0.773562 0.7659 0.815931 0.8340 0.7651 Uncertain 19_3119239_C->T 19 3119239 3119239 C T snp 1226.77 0/1 99 147 89 58 0.39 exonic rs4900 GNA11 AD synonymous SNV NM_002067 exon6 c.C771T p.T257T 0.348842 0.4058 0.382208 0.4263 0.4165 ID=COSM3756588;OCCURENCE=1(large_intestine) Uncertain 19_3119405_T->G 19 3119405 3119405 T G snp 2532.77 1/1 99 87 2 85 0.98 intronic rs370286 GNA11 AD NM_002067 exon6 c.24708+48T>G 0.856829 0.7669 0.858625 0.8562 0.7644 Uncertain 19_3119406_G->T 19 3119406 3119406 G T snp 884.77 0/1 99 86 47 39 0.45 intronic rs451778 GNA11 AD NM_002067 exon6 c.24708+49G>T 0.349042 0.4048 0.4369 0.4169 Uncertain 19_3148819_G->T 19 3148819 3148819 G T snp 1202.77 1/1 87 41 0 41 1.0 ncRNA_exonic rs8113569 LOC100996351 AU 0.601038 0.7063 0.546566 0.5821 0.7147 Uncertain 19_3149990_G->C 19 3149990 3149990 G C snp 418.77 1/1 33 12 0 12 1.0 ncRNA_intronic rs170159 LOC100996351 AU 0.79972 0.7768 Uncertain 19_3150238_A->G 19 3150238 3150238 A G snp 4199.77 1/1 99 146 0 146 1.0 exonic rs310680 GNA15 AU nonsynonymous SNV NM_002068 exon3 c.A440G p.Y147C 1 1 1.0000 1 1 T 0.012 P -0.940 T 0.0 T 0.0 T Pathogenic 19_3155902_G->A 19 3155902 3155902 G A snp 6754.77 1/1 99 250 1 249 1.0 exonic rs2074865 GNA15 AU synonymous SNV NM_002068 exon5 c.G696A p.L232L 0.327276 0.5377 0.161387 0.2319 0.5769 Uncertain 19_3179992_G->A 19 3179992 3179992 G A snp 2036.77 0/1 99 130 55 75 0.58 UTR3 rs138596662 S1PR4 AU 0.00259585 0.0129 0.0008 0.0107 Uncertain 19_3186085_G->T 19 3186085 3186085 G T snp 3066.77 1/1 99 122 1 121 0.99 exonic rs11551095 NCLN AU synonymous SNV NM_020170 exon1 c.G57T p.P19P 0.553315 0.5238 0.553898 0.5434 0.5542 Uncertain 19_3193146_C->G 19 3193146 3193146 C G snp 41.77 0/1 70 4 2 2 0.5 intronic rs496342 NCLN AU NM_020170 exon3 c.7253-135C>G 0.481829 0.6389 Uncertain 19_3193180_C->G 19 3193180 3193180 C G snp 333.77 0/1 99 15 5 10 0.67 intronic rs538197 NCLN AU NM_020170 exon3 c.7253-101C>G 0.489816 0.6379 Uncertain 19_3193484_A->G 19 3193484 3193484 A G snp 354.77 0/1 99 35 21 14 0.4 intronic rs499877 NCLN AU NM_020170 exon3 c.7398+58A>G 0.619209 0.9157 Uncertain 19_3196122_T->C 19 3196122 3196122 T C snp 1091.77 0/1 99 100 54 46 0.46 intronic rs311615 NCLN AU NM_020170 exon4 c.10152-58T>C 0.636382 0.9157 Uncertain 19_3196439_C->G 19 3196439 3196439 C G snp 68.77 0/1 69 5 2 3 0.6 intronic rs3826932 NCLN AU NM_020170 exon4 c.10247+164C>G 0.125599 0.1736 Uncertain 19_3198695_C->G 19 3198695 3198695 C G snp 91.77 0/1 99 13 8 5 0.38 intronic rs311620 NCLN AU NM_020170 exon5 c.12786-119C>G 0.411342 0.4891 Uncertain 19_3198755_C->T 19 3198755 3198755 C T snp 604.77 0/1 99 64 36 28 0.44 intronic rs2304247 NCLN AU NM_020170 exon5 c.12786-59C>T 0.125399 0.1736 0.124836 Uncertain 19_3198777_A->G 19 3198777 3198777 A G snp 1002.77 0/1 99 87 46 41 0.47 intronic rs311621 NCLN AU NM_020170 exon5 c.12786-37A>G 0.452276 0.4891 0.426572 0.4330 0.4918 Uncertain 19_3201323_C->T 19 3201323 3201323 C T snp 261.77 0/1 99 16 6 10 0.63 intronic rs311624 NCLN AU NM_020170 exon6 c.15492-197C>T 0.266573 0.4077 Uncertain 19_3201695_A->G 19 3201695 3201695 A G snp 38.77 0/1 67 8 5 3 0.38 intronic rs311625 NCLN AU NM_020170 exon6 c.15596+71A>G 0.655551 0.9147 Uncertain 19_3204172_A->G 19 3204172 3204172 A G snp 708.77 0/1 99 53 21 32 0.6 intronic rs8106438 NCLN AU NM_020170 exon8 c.18114+30A>G 0.653954 0.9147 0.496070 0.5368 0.9117 Uncertain 19_3206235_A->G 19 3206235 3206235 A G snp 256.77 0/1 99 13 5 8 0.62 intronic rs482758 NCLN AU NM_020170 exon12 c.20231-24A>G 0.659145 0.9335 0.548089 0.6161 0.9434 Uncertain 19_3207287_C->G 19 3207287 3207287 C G snp 2931.77 0/1 99 250 127 123 0.49 intronic rs74788223 NCLN AU NM_020170 exon13 c.21221+38C>G 0.0435304 0.1776 0.000692 0.0234 0.1782 Uncertain 19_3207338_T->C 19 3207338 3207338 T C snp 6393.77 1/1 99 227 0 227 1.0 intronic rs312068 NCLN AU NM_020170 exon14 c.21360-50T>C 0.675519 0.9435 0.511456 0.5593 0.95 Uncertain 19_3207348_G->C 19 3207348 3207348 G C snp 2739.77 0/1 99 219 105 114 0.52 intronic rs312069 NCLN AU NM_020170 exon14 c.21360-40G>C 0.67472 0.8909 0.567430 0.5919 0.8901 Uncertain 19_3251116_C->A 19 3251116 3251116 C A snp 1157.77 0/1 99 92 41 51 0.55 intronic rs72987040 CELF5 AU NM_001172673 exon2 c.26328+51C>A 0.0914537 0.1062 0.106489 0.1059 0.1113 Uncertain 19_3273818_T->C 19 3273818 3273818 T C snp 2500.77 1/1 99 90 0 90 1.0 intronic rs312928 CELF5 AU NM_001172673 exon3 c.49132-51T>C 0.866414 0.9484 0.810194 Uncertain 19_3278206_G->A 19 3278206 3278206 G A snp 43.77 0/1 68 4 2 2 0.5 intronic rs11879556 CELF5 AU NM_001172673 exon5 c.53371+98G>A 0.540535 0.7272 Uncertain 19_3281944_G->T 19 3281944 3281944 G T snp 409.77 0/1 99 21 9 12 0.57 intronic rs34139199 CELF5 AU NM_001172673 exon7 c.57386-179G>T 0.414137 0.1478 Uncertain 19_3284819_T->C 19 3284819 3284819 T C snp 757.77 0/1 99 56 24 32 0.57 intronic rs3746064 CELF5 AU NM_001172673 exon9 c.60162-80T>C 0.417332 0.1508 Uncertain 19_3285012_T->C 19 3285012 3285012 T C snp 257.77 0/1 99 19 8 11 0.58 intronic rs59656659 CELF5 AU NM_001172673 exon9 c.60225+50T>C 0.417532 0.1508 0.552031 0.4672 0.1245 Uncertain 19_3285042_C->T 19 3285042 3285042 C T snp 80.77 0/1 99 9 5 4 0.44 intronic rs113646375 CELF5 AU NM_001172673 exon9 c.60225+80C>T 0.183307 0.12 Uncertain 19_3285864_T->C 19 3285864 3285864 T C snp 32.77 0/1 61 12 6 6 0.5 intronic CELF5 AU NM_001172673 exon10 c.61202-75T>C Uncertain 19_3293593_A->G 19 3293593 3293593 A G snp 228.77 0/1 99 13 6 7 0.54 UTR3 rs313784 CELF5 AU 0.61222 0.2391 Uncertain 19_3366786_G->T 19 3366786 3366786 G T snp 80.77 0/1 30 5 1 4 0.8 intronic rs3764589 NFIC AU NM_001245002 exon1 c.30+122G>T 0.260583 0.1974 Uncertain 19_3433695_C->- 19 3433695 3433695 C - indel 373.73 0/1 99 34 15 19 0.56 intronic rs3833877 NFIC AU NM_205843 exon4 c.73910+105delC 0.358626 0.5933 Uncertain 19_3434413_C->G 19 3434413 3434413 C G snp 1356.77 0/1 99 123 64 59 0.48 intronic rs2302220 NFIC AU NM_205843 exon5 c.74718+15C>G 0.386981 0.7242 0.244426 0.3517 0.7683 Uncertain 19_3435254_T->C 19 3435254 3435254 T C snp 433.77 0/1 99 41 25 16 0.39 intronic rs2072349 NFIC AU NM_205843 exon6 c.75525+49T>C 0.559704 0.7252 0.411069 0.4314 0.7568 Uncertain 19_3448842_T->C 19 3448842 3448842 T C snp 372.77 0/1 99 19 8 11 0.58 intronic rs4807472 NFIC AU NM_205843 exon7 c.89331-169T>C 0.609824 0.3571 Uncertain 19_3448869_A->G 19 3448869 3448869 A G snp 554.77 0/1 99 31 14 17 0.55 intronic rs4807473 NFIC AU NM_205843 exon7 c.89331-142A>G 0.343051 0.2202 Uncertain 19_3452683_A->G 19 3452683 3452683 A G snp 2009.77 0/1 99 179 99 80 0.45 intronic rs8105687 NFIC AU NM_205843 exon8 c.92984+19A>G 0.583666 0.3681 0.681713 0.6320 0.3342 Uncertain 19_3456738_T->C 19 3456738 3456738 T C snp 715.77 0/1 99 50 27 23 0.46 intronic rs2240665 NFIC AU NM_205843 exon10 c.96953+105T>C 0.637979 0.7579 Uncertain 19_3457058_G->A 19 3457058 3457058 G A snp 306.77 0/1 99 16 6 10 0.63 intronic rs12980469 NFIC AU NM_205843 exon10 c.96953+425G>A 0.403954 0.7173 Uncertain 19_3478646_C->G 19 3478646 3478646 C G snp 174.9 1/1 15 6 0 6 1.0 intronic rs10413312 SMIM24 AU NM_001136503 exon3 c.3975-169C>G 0.696486 0.8552 Uncertain 19_3478968_G->A 19 3478968 3478968 G A snp 1033.77 0/1 99 107 65 42 0.39 intronic SMIM24 AU NM_001136503 exon3 c.4087+41G>A Uncertain 19_3480232_A->G 19 3480232 3480232 A G snp 399.77 1/1 30 15 0 15 1.0 intronic rs2240666 SMIM24 AU NM_001136503 exon4 c.5554-162A>G 0.653954 0.8085 Uncertain 19_3480358_T->C 19 3480358 3480358 T C snp 1161.77 1/1 81 49 0 49 1.0 intronic rs2074961 SMIM24 AU NM_001136503 exon4 c.5554-36T>C 0.649161 0.8085 0.5581 0.7861 Uncertain 19_3491368_A->G 19 3491368 3491368 A G snp 86.28 1/1 9 3 0 3 1.0 UTR3 rs10126 DOHH AU 0.627596 0.8591 Uncertain 19_3492243_C->T 19 3492243 3492243 C T snp 1418.77 0/1 99 120 57 63 0.53 intronic rs78690374 DOHH AU NM_001145165 exon2 c.770-16C>T 0.0852636 0.1518 0.020098 0.1435 0.3108 Uncertain 19_3526452_A->G 19 3526452 3526452 A G snp 733.77 1/1 54 23 0 23 1.0 intronic rs2286543 FZR1 AU NM_001136197 exon4 c.3397+68A>G 0.686701 0.8244 Uncertain 19_3526498_G->A 19 3526498 3526498 G A snp 269.8 1/1 21 8 0 8 1.0 intronic rs2286544 FZR1 AU NM_001136197 exon4 c.3397+114G>A 0.348043 0.8026 Uncertain 19_3526786_G->A 19 3526786 3526786 G A snp 139.03 1/1 12 6 0 6 1.0 intronic rs2286546 FZR1 AU NM_016263 exon6 c.3990-191G>A 0.348243 0.8026 Uncertain 19_3533274_G->A 19 3533274 3533274 G A snp 601.77 1/1 45 25 0 25 1.0 intronic rs740681 FZR1 AU NM_001136197 exon9 c.10304-17G>A 0.353435 0.8016 0.200246 0.3405 0.8397 Uncertain 19_3534268_T->C 19 3534268 3534268 T C snp 126.03 1/1 12 4 0 4 1.0 intronic rs2369190 FZR1 AU NM_001136197 exon10 c.11431-150T>C 0.716653 0.8214 Uncertain 19_3534842_G->A 19 3534842 3534842 G A snp 7057.77 1/1 99 248 1 247 1.0 UTR3 rs10155 FZR1 AU 0.348043 0.7976 0.200092 0.3344 0.8322 Uncertain 19_3538638_G->A 19 3538638 3538638 G A snp 1130.77 1/1 81 37 0 37 1.0 upstream rs8644 C19orf71 AU 0.353435 0.7946 Uncertain 19_3538646_A->G 19 3538646 3538646 A G snp 1130.77 1/1 81 37 0 37 1.0 upstream rs114420443 C19orf71 AU 0.717851 0.8214 Uncertain 19_3538647_-->GTGGGTGCGTG 19 3538647 3538647 - GTGGGTGCGTG indel 5230.73 1/1 99 37 0 37 1.0 upstream rs113259909 C19orf71 AU Uncertain 19_3538654_G->C 19 3538654 3538654 G C snp 2203.77 1/1 99 73 0 73 1.0 upstream rs1128872 C19orf71 AU 0.717851 0.8214 0.527595 Uncertain 19_3539444_T->G 19 3539444 3539444 T G snp 657.77 1/1 48 20 0 20 1.0 intronic rs7258234 C19orf71 AU NM_001135580 exon1 c.83+186T>G Uncertain 19_3542983_C->T 19 3542983 3542983 C T snp 1474.77 0/1 99 164 96 68 0.41 intronic rs12608592 C19orf71 AU NM_001135580 exon2 c.4057-249C>T 0.0728834 0.252 0.006899 0.0518 0.2600 Uncertain 19_3543397_C->T 19 3543397 3543397 C T snp 1561.77 1/1 99 59 0 59 1.0 exonic rs12608919 C19orf71 AU nonsynonymous SNV NM_001135580 exon2 c.C248T p.P83L 0.367212 0.7986 0.3361 0.8293 1 T 0.0 P -0.967 T 0.011 T 0.005 T Pathogenic 19_3544971_C->T 19 3544971 3544971 C T snp 1138.77 1/1 81 41 0 41 1.0 intronic rs12976454 MFSD12 AU NM_001287529 exon2 c.230+34C>T 0.365815 0.8075 0.215081 0.4119 0.8605 Uncertain 19_3548057_T->C 19 3548057 3548057 T C snp 5580.77 1/1 99 218 0 218 1.0 intronic rs6510759 MFSD12 AU NM_001287529 exon7 c.3321+29T>C 0.719848 0.8234 0.583375 0.5964 0.8547 Uncertain 19_3548231_A->G 19 3548231 3548231 A G snp 763.77 0/1 99 62 29 33 0.53 exonic rs2240751 MFSD12 AU nonsynonymous SNV NM_001287529 exon3 c.T517C p.Y173H 0.0810703 0.2688 0.005226 0.0319 0.2997 0.01 T 1.000 P -1.248 T 1.0 D 0.999 D Pathogenic 19_3548313_T->C 19 3548313 3548313 T C snp 683.77 1/1 51 20 0 20 1.0 intronic rs2240752 MFSD12 AU NM_001287529 exon8 c.3558+48T>C 0.720248 0.8224 0.615296 0.6214 0.8571 Uncertain 19_3550926_T->G 19 3550926 3550926 T G snp 310.77 0/1 49 11 2 9 0.82 intronic rs75555084 MFSD12 AU NM_001287529 exon9 c.6274-55T>G 0.0728834 0.2391 Uncertain 19_3557005_A->G 19 3557005 3557005 A G snp 54.74 1/1 6 2 0 2 1.0 intronic rs1715092 MFSD12 AU NM_174983 exon10 c.12396-98A>G 0.723043 0.8254 Uncertain 19_3574073_G->A 19 3574073 3574073 G A snp 286.77 0/1 99 18 8 10 0.56 intronic rs117786787 HMG20B AU NM_006339 exon3 c.491+275G>A 0.0607029 0.0893 Uncertain 19_3576315_CTT->- 19 3576315 3576317 CTT - indel 5349.73 0/1 99 248 138 110 0.44 intronic rs3217053 HMG20B AU NM_006339 exon6 c.2998+10_2998+12delCTT 0.328674 0.8542 0.263109 0.3407 0.8480 Uncertain 19_3586471_A->G 19 3586471 3586471 A G snp 1039.77 0/1 99 90 45 45 0.5 intronic rs8100350 GIPC3 AR NM_133261 exon2 c.897-21A>G 0.371206 0.2073 0.356736 0.2997 0.2400 Uncertain 19_3595923_G->A 19 3595923 3595923 G A snp 1567.77 1/1 99 48 0 48 1.0 exonic rs1131882 TBXA2R AD synonymous SNV NM_001060 exon3 c.C795T p.I265I 0.234625 0.5883 0.120778 0.2652 0.6319 ID=CM022851;DIS=Elevated IgE level in atopic dermatitis patients, association;TAG=DP;PUB=11922633 DP Uncertain 19_3612819_G->A 19 3612819 3612819 G A snp 6150.77 1/1 99 228 0 228 1.0 ncRNA_exonic rs62130601 CACTIN-AS1 AU 0.131589 0.3244 0.0992 0.3561 Uncertain 19_3614403_T->C 19 3614403 3614403 T C snp 3764.77 1/1 99 113 0 113 1.0 exonic rs7255692 CACTIN AU synonymous SNV NM_001080543 exon7 c.A1347G p.A449A 0.985823 1 0.968104 0.9646 0.9995 Uncertain 19_3633192_A->G 19 3633192 3633192 A G snp 1339.77 0/1 99 128 63 65 0.51 intronic rs542462 PIP5K1C AR NM_001195733 exon1 c.3+25A>G 0.168131 0.3155 0.126334 0.1893 0.3724 Uncertain 19_3647440_A->G 19 3647440 3647440 A G snp 1564.77 1/1 99 61 0 61 1.0 intronic rs4806948 PIP5K1C AR NM_001195733 exon8 c.14220+56A>G 0.836661 0.9058 0.842751 Uncertain 19_3653525_C->T 19 3653525 3653525 C T snp 5262.77 1/1 99 193 2 191 0.99 exonic rs2074957 PIP5K1C AR synonymous SNV NM_012398 exon7 c.G684A p.S228S 0.542931 0.6865 0.529448 0.5603 0.7002 Uncertain 19_3656652_G->A 19 3656652 3656652 G A snp 650.77 1/1 48 19 0 19 1.0 intronic rs10432303 PIP5K1C AR NM_001195733 exon12 c.23391+97G>A 0.343051 0.4315 Uncertain 19_3660944_G->A 19 3660944 3660944 G A snp 5946.77 1/1 99 217 1 216 1.0 intronic rs3826944 PIP5K1C AR NM_001195733 exon13 c.27799-19G>A 0.558506 0.6974 0.540212 0.5644 0.7116 Uncertain 19_3667461_T->C 19 3667461 3667461 T C snp 1683.77 1/1 99 50 0 50 1.0 intronic rs7257360 PIP5K1C AR NM_001195733 exon16 c.34187+110T>C 1 1 Uncertain 19_3722080_GCGTCCGC->- 19 3722080 3722087 GCGTCCGC - indel 1429.73 1/1 42 19 0 19 1.0 intronic rs113181248 TJP3 AU NM_001267561 exon1 c.18+172_18+179delGCGTCCGC 0.313498 0.4712 Uncertain 19_3730041_C->T 19 3730041 3730041 C T snp 2663.77 0/1 99 224 110 114 0.51 exonic rs7258176 TJP3 AU synonymous SNV NM_001267560 exon4 c.C174T p.I58I 0.70647 0.6429 0.673151 0.6675 0.6748 Uncertain 19_3731753_G->A 19 3731753 3731753 G A snp 114.77 0/1 99 9 5 4 0.44 intronic rs8101518 TJP3 AU NM_001267561 exon6 c.10042-179G>A 0.131989 0.1419 Uncertain 19_3731783_G->A 19 3731783 3731783 G A snp 384.77 0/1 99 25 12 13 0.52 intronic rs8101530 TJP3 AU NM_001267561 exon6 c.10042-149G>A 0.150759 0.1419 Uncertain 19_3731847_C->T 19 3731847 3731847 C T snp 1402.77 0/1 99 122 68 54 0.44 intronic rs1879039 TJP3 AU NM_001267561 exon6 c.10042-85C>T 0.150759 0.1419 Uncertain 19_3731985_G->A 19 3731985 3731985 G A snp 2358.77 0/1 99 216 115 101 0.47 exonic rs1879040 TJP3 AU synonymous SNV NM_001267560 exon6 c.G666A p.S222S 0.328275 0.2768 0.320544 0.3453 0.2720 Uncertain 19_3738649_A->C 19 3738649 3738649 A C snp 832.77 0/1 99 62 28 34 0.55 exonic rs599587 TJP3 AU synonymous SNV NM_001267560 exon12 c.A1381C p.R461R 0.705272 0.6181 0.687298 0.6782 0.6440 Uncertain 19_3738971_A->G 19 3738971 3738971 A G snp 2038.77 0/1 99 185 91 94 0.51 exonic rs600986 TJP3 AU synonymous SNV NM_001267560 exon13 c.A1470G p.P490P 0.698482 0.6181 0.680917 0.6770 0.6445 Uncertain 19_3744159_C->T 19 3744159 3744159 C T snp 172.9 1/1 15 5 0 5 1.0 intronic rs614717 TJP3 AU NM_001267561 exon15 c.22142+127C>T 0.805312 0.8343 Uncertain 19_3746087_G->A 19 3746087 3746087 G A snp 999.77 0/1 99 106 55 51 0.48 intronic rs501168 TJP3 AU NM_001267561 exon16 c.24189+8G>A 0.426917 0.4563 0.435943 0.4877 0.5109 Uncertain 19_3746207_T->C 19 3746207 3746207 T C snp 95.77 0/1 99 16 12 4 0.25 intronic rs624300 TJP3 AU NM_001267561 exon16 c.24189+128T>C 0.46885 0.4593 Uncertain 19_3748243_G->A 19 3748243 3748243 G A snp 158.77 0/1 63 9 3 6 0.67 intronic rs68095746 TJP3 AU NM_001267561 exon19 c.26189+164G>A 0.327077 0.4554 Uncertain 19_3749971_A->G 19 3749971 3749971 A G snp 320.77 0/1 99 19 9 10 0.53 intronic rs7257905 TJP3 AU NM_001267561 exon20 c.28245-164A>G 0.516773 0.6399 Uncertain 19_3750205_-->GG 19 3750205 3750205 - GG indel 4167.73 0/1 99 217 104 113 0.52 intronic rs10692689 TJP3 AU NM_001267561 exon20 c.28292+23insGG 0.517971 0.6399 0.460064 0.5450 0.6625 Uncertain 19_3750615_T->C 19 3750615 3750615 T C snp 1883.77 0/1 99 169 87 82 0.49 exonic rs1046268 TJP3 AU nonsynonymous SNV NM_001267560 exon21 c.T2693C p.M898T 0.533347 0.6389 0.486464 0.5862 0.6726 1 T 0.0 P -1.002 T 0.0 T 0.0 T Pathogenic 19_3750622_A->C 19 3750622 3750622 A C snp 1631.77 0/1 99 158 85 73 0.46 exonic rs1046271 TJP3 AU synonymous SNV NM_001267560 exon21 c.A2700C p.V900V 0.596246 0.6409 0.549608 0.6012 0.6721 Uncertain 19_3750690_A->C 19 3750690 3750690 A C snp 594.77 0/1 99 57 32 25 0.44 UTR3 rs1046278 TJP3 AU 0.576478 0.6399 0.526777 0.5922 0.6720 Uncertain 19_3752563_G->A 19 3752563 3752563 G A snp 416.77 0/1 99 62 39 23 0.37 exonic rs80066100 APBA3 AU synonymous SNV NM_004886 exon8 c.C1338T p.A446A 0.048722 0.1349 0.004997 0.0615 0.2252 ID=COSM3692697;OCCURENCE=1(large_intestine) Uncertain 19_3752874_A->G 19 3752874 3752874 A G snp 1985.77 0/1 99 196 107 89 0.45 exonic rs8102086 APBA3 AU nonsynonymous SNV NM_004886 exon7 c.T1126C p.C376R 0.539337 0.63 0.503538 0.5633 0.6541 0.09 T 0.016 P -1.055 T 0.0 T 0.0 T Pathogenic 19_3752947_G->T 19 3752947 3752947 G T snp 2232.77 0/1 99 191 95 96 0.5 exonic rs368458103 APBA3 AU synonymous SNV NM_004886 exon7 c.C1053A p.A351A 0.000998403 0.004 0.0005 0.0054 Uncertain 19_3753148_A->C 19 3753148 3753148 A C snp 379.77 0/1 99 21 5 16 0.76 intronic rs10414283 APBA3 AU NM_004886 exon5 c.1965+160A>C 0.38139 0.4464 Uncertain 19_3753152_G->A 19 3753152 3753152 G A snp 320.77 0/1 99 18 5 13 0.72 intronic rs10411927 APBA3 AU NM_004886 exon5 c.1965+164G>A 0.339856 0.4464 Uncertain 19_3753656_T->A 19 3753656 3753656 T A snp 903.77 0/1 99 50 19 31 0.62 intronic rs12609548 APBA3 AU NM_004886 exon6 c.2739-106T>A 0.574481 0.6319 Uncertain 19_3753769_C->T 19 3753769 3753769 C T snp 3031.77 0/1 99 250 116 134 0.54 exonic rs3746120 APBA3 AU synonymous SNV NM_004886 exon6 c.G1005A p.A335A 0.340056 0.4474 0.322260 0.4445 0.4938 Uncertain 19_3767265_C->T 19 3767265 3767265 C T snp 594.77 0/1 99 78 47 31 0.4 exonic rs7239 MRPL54 AU synonymous SNV NM_172251 exon3 c.C291T p.F97F 0.607827 0.8026 0.545517 0.5995 0.8100 Uncertain 19_3771111_G->A 19 3771111 3771111 G A snp 59.74 1/1 6 3 0 3 1.0 intronic rs79850405 RAX2 AU,AD NM_032753 exon1 c.339+154G>A 0.0648962 0.1726 Uncertain 19_3771880_C->T 19 3771880 3771880 C T snp 199.77 0/1 99 16 6 10 0.63 intronic rs11085039 RAX2 AU,AD NM_032753 exon2 c.1131+131C>T 0.61222 0.8046 0.6085 0.6727 Uncertain 19_3772325_T->C 19 3772325 3772325 T C snp 818.77 1/1 60 28 0 28 1.0 upstream rs10419790 RAX2 AU,AD 0.623602 0.8373 Uncertain 19_3779250_C->G 19 3779250 3779250 C G snp 1251.77 0/1 99 77 32 45 0.58 intronic MATK AU NM_139354 exon3 c.1005+65C>G Uncertain 19_3779584_G->A 19 3779584 3779584 G A snp 1725.77 0/1 99 130 63 67 0.52 exonic rs55662903 MATK AU synonymous SNV NM_139354 exon9 c.C751T p.L251L 0.00379393 0.0169 0.0017 0.0213 Uncertain 19_3779859_A->C 19 3779859 3779859 A C snp 490.77 0/1 99 53 32 21 0.4 intronic rs373897217 MATK AU NM_139354 exon6 c.1615+64A>C 0.000998403 0.004 Uncertain 19_3779934_A->C 19 3779934 3779934 A C snp 77.77 0/1 99 9 6 3 0.33 intronic rs12610723 MATK AU NM_139354 exon6 c.1615+139A>C 0.892971 0.756 Uncertain 19_3781557_C->T 19 3781557 3781557 C T snp 1763.77 0/1 99 167 87 80 0.48 intronic rs12610731 MATK AU NM_139354 exon7 c.3424-47C>T 0.122005 0.247 0.088344 0.1135 0.2351 Uncertain 19_3784757_T->G 19 3784757 3784757 T G snp 1093.77 0/1 99 88 41 47 0.53 intronic rs2074976 MATK AU NM_139354 exon12 c.6642-65T>G 0.882388 0.756 0.911958 Uncertain 19_3785223_T->G 19 3785223 3785223 T G snp 1260.77 1/1 90 42 0 42 1.0 UTR5 rs4807509 MATK AU 0.882388 0.756 0.9144 0.7767 Uncertain 19_3806162_T->C 19 3806162 3806162 T C snp 2104.77 1/1 99 82 0 82 1.0 intronic rs8109765 ZFR2 AU NM_015174 exon1 c.177+39T>C 0.548722 0.5456 0.403269 0.4525 0.4872 Uncertain 19_3807276_C->G 19 3807276 3807276 C G snp 1117.77 0/1 99 95 42 53 0.56 intronic rs56083710 ZFR2 AU NM_015174 exon2 c.1321+9C>G 0.170527 0.1607 0.116266 0.1113 0.1787 Uncertain 19_3811457_G->C 19 3811457 3811457 G C snp 195.77 0/1 99 25 15 10 0.4 intronic rs10413220 ZFR2 AU NM_015174 exon5 c.5418+93G>C 0.747404 0.5754 Uncertain 19_3817001_C->T 19 3817001 3817001 C T snp 108.77 0/1 99 9 5 4 0.44 intronic rs3746113 ZFR2 AU NM_015174 exon7 c.10897+158C>T 0.000199681 0.001 Uncertain 19_3819275_A->T 19 3819275 3819275 A T snp 496.77 1/1 39 14 0 14 1.0 intronic rs2301840 ZFR2 AU NM_015174 exon8 c.13287+42A>T 0.636781 0.748 0.612032 0.6134 0.8066 Uncertain 19_3820050_G->C 19 3820050 3820050 G C snp 306.77 0/1 99 20 10 10 0.5 intronic rs3815185 ZFR2 AU NM_015174 exon9 c.14233-129G>C 0.380791 0.4296 Uncertain 19_3820191_C->T 19 3820191 3820191 C T snp 1764.77 0/1 99 213 121 92 0.43 exonic rs2301843 ZFR2 AU nonsynonymous SNV NM_015174 exon11 c.G1729A p.A577T 0.380391 0.4296 0.365298 0.3725 0.4772 0.44 T 0.0 P -0.961 T 0.003 T 0.001 T Pathogenic 19_3820293_A->G 19 3820293 3820293 A G snp 3019.77 1/1 99 104 0 104 1.0 splicing rs2301844 ZFR2 AU NM_015174 exon9 c.14342+5A>G 0.626398 0.749 0.601305 0.5268 0.7287 Pathogenic 19_3820305_T->G 19 3820305 3820305 T G snp 2472.77 1/1 99 78 0 78 1.0 intronic rs2301845 ZFR2 AU NM_015174 exon9 c.14342+17T>G 0.626797 0.748 0.604178 0.5218 0.7179 Uncertain 19_3820389_A->C 19 3820389 3820389 A C snp 644.77 0/1 99 45 18 27 0.6 intronic rs2301846 ZFR2 AU NM_015174 exon9 c.14342+101A>C 0.392372 0.4494 Uncertain 19_3820441_A->G 19 3820441 3820441 A G snp 536.77 1/1 39 20 0 20 1.0 intronic rs2301847 ZFR2 AU NM_015174 exon9 c.14342+153A>G 0.619209 0.7292 Uncertain 19_3822008_C->G 19 3822008 3822008 C G snp 853.77 1/1 66 25 0 25 1.0 intronic rs28510805 ZFR2 AU NM_015174 exon11 c.16132-70C>G 0.614617 0.748 Uncertain 19_3823192_T->C 19 3823192 3823192 T C snp 1935.77 0/1 99 155 75 80 0.52 intronic rs34503630 ZFR2 AU NM_015174 exon12 c.17297-51T>C 0.189896 0.2679 Uncertain 19_3823237_G->A 19 3823237 3823237 G A snp 2849.77 0/1 99 234 112 122 0.52 intronic rs2240231 ZFR2 AU NM_015174 exon12 c.17297-6G>A 0.370407 0.4117 0.395676 0.3751 0.4168 Uncertain 19_3825034_G->A 19 3825034 3825034 G A snp 37.77 0/1 66 4 2 2 0.5 intronic rs12611253 ZFR2 AU NM_015174 exon13 c.19281-193G>A 0.365415 0.4077 Uncertain 19_3827734_G->T 19 3827734 3827734 G T snp 380.77 0/1 99 21 5 16 0.76 intronic rs62132979 ZFR2 AU NM_015174 exon14 c.21705+83G>T 0.175519 0.256 Uncertain 19_3831198_A->G 19 3831198 3831198 A G snp 502.77 0/1 99 38 18 20 0.53 intronic rs12461577 ZFR2 AU NM_015174 exon15 c.25354-102A>G 0.367812 0.4177 Uncertain 19_3831449_G->A 19 3831449 3831449 G A snp 1073.77 0/1 99 56 17 39 0.7 exonic rs2240232 ZFR2 AU nonsynonymous SNV NM_015174 exon5 c.C704T p.P235L 0.365016 0.4206 0.374724 0.4020 0.5899 0.11 T 0.0 P -0.918 T 0.007 T 0.001 T Pathogenic 19_3831525_C->A 19 3831525 3831525 C A snp 1257.77 0/1 99 98 44 54 0.55 exonic rs2240233 ZFR2 AU nonsynonymous SNV NM_015174 exon5 c.G628T p.V210L 0.367412 0.4157 0.385840 0.4449 0.5314 0.51 T 0.0 P -0.914 T 0.006 T 0.003 T Pathogenic 19_3831765_G->A 19 3831765 3831765 G A snp 672.77 0/1 99 53 26 27 0.51 exonic rs2240235 ZFR2 AU nonsynonymous SNV NM_015174 exon4 c.C491T p.S164L 0.367212 0.4196 0.394288 0.3897 0.4287 0.59 T 0.005 P -0.914 T 0.035 T 0.003 T Pathogenic 19_3833553_A->G 19 3833553 3833553 A G snp 342.77 0/1 99 37 19 18 0.49 intronic rs375539629 ZFR2 AU NM_015174 exon17 c.27715-108A>G 0.00419329 0.0109 Uncertain 19_3833573_A->- 19 3833573 3833573 A - indel 630.74 1/1 25 47 4 43 0.91 intronic rs398033740 ZFR2 AU NM_015174 exon17 c.27715-88delA 0.885184 0.9762 Uncertain 19_3869128_C->T 19 3869128 3869128 C T snp 512.77 1/1 39 19 2 17 0.89 upstream rs35860262 ZFR2 AU 0.365815 0.4127 Uncertain 19_3902722_C->G 19 3902722 3902722 C G snp 2371.77 1/1 99 67 0 67 1.0 intronic rs2060247 ATCAY AR NM_033064 exon3 c.16778+179C>G 0.845447 0.8165 Uncertain 19_3908201_T->C 19 3908201 3908201 T C snp 1743.77 1/1 99 58 0 58 1.0 intronic rs3810373 ATCAY AR NM_033064 exon6 c.22500-64T>C 0.810903 0.9613 Uncertain 19_3910933_G->A 19 3910933 3910933 G A snp 6059.77 1/1 99 219 1 218 1.0 intronic rs4807527 ATCAY AR NM_033064 exon8 c.25122+46G>A 0.698882 0.9415 0.525391 0.5912 0.9464 Uncertain 19_3911012_T->A 19 3911012 3911012 T A snp 1562.77 1/1 99 41 0 41 1.0 intronic rs4807528 ATCAY AR NM_033064 exon8 c.25122+125T>A 0.697484 0.9425 Uncertain 19_3918721_A->G 19 3918721 3918721 A G snp 864.77 1/1 63 29 0 29 1.0 intronic rs11667520 ATCAY AR NM_033064 exon11 c.33038-82A>G 0.655551 0.9415 Uncertain 19_3920616_T->C 19 3920616 3920616 T C snp 99.28 1/1 9 3 0 3 1.0 intronic rs8108660 ATCAY AR NM_033064 exon12 c.34998-147T>C 0.989816 1 Uncertain 19_3938842_G->T 19 3938842 3938842 G T snp 82.28 1/1 9 3 0 3 1.0 intronic rs7508648 NMRK2 AU NM_170678 exon5 c.5088+85G>T Uncertain 19_3939703_G->A 19 3939703 3939703 G A snp 216.84 1/1 18 6 0 6 1.0 intronic rs4806966 NMRK2 AU NM_170678 exon6 c.6228-194G>A 0.896965 0.994 Uncertain 19_3958324_C->G 19 3958324 3958324 C G snp 785.77 0/1 99 53 23 30 0.57 downstream rs3745980 DAPK3 AU 0.518371 0.7718 Uncertain 19_3958397_A->G 19 3958397 3958397 A G snp 4222.77 1/1 99 156 0 156 1.0 downstream rs7255123 DAPK3 AU 0.823882 0.9702 Uncertain 19_3960020_C->T 19 3960020 3960020 C T snp 960.77 0/1 99 120 74 46 0.38 intronic rs2304193 DAPK3 AU NM_001348 exon2 c.958-36C>T 0.201478 0.1984 0.193372 0.1797 0.1880 Uncertain 19_3960111_C->A 19 3960111 3960111 C A snp 1962.77 0/1 99 139 51 88 0.63 intronic rs112514343 DAPK3 AU NM_001348 exon2 c.1004+9C>A 0.00279553 0.0129 0.0009 0.0060 Uncertain 19_3963724_G->A 19 3963724 3963724 G A snp 1663.77 0/1 99 135 66 69 0.51 intronic rs2278437 DAPK3 AU NM_001348 exon4 c.4569+57G>A 0.486821 0.7589 0.450504 Uncertain 19_3963744_C->G 19 3963744 3963744 C G snp 1216.77 0/1 99 105 52 53 0.5 intronic rs34381972 DAPK3 AU NM_001348 exon4 c.4569+77C>G 0.198283 0.2113 0.196233 Uncertain 19_3964106_C->G 19 3964106 3964106 C G snp 248.77 0/1 99 17 8 9 0.53 intronic rs2278438 DAPK3 AU NM_001348 exon6 c.5143-135C>G 0.248203 0.2123 Uncertain 19_3964438_AACCTCACCCTCACGCTCCCCGC->- 19 3964438 3964460 AACCTCACCCTCACGCTCCCCGC - indel 749.73 0/1 99 27 11 16 0.59 intronic rs758458962 DAPK3 AU NM_001348 exon6 c.5273+67_5273+89delAACCTCACCCTCACGCTCCCCGC Uncertain 19_3969505_G->A 19 3969505 3969505 G A snp 140.77 0/1 99 19 13 6 0.32 intronic rs2304194 DAPK3 AU NM_001348 exon8 c.10573-166G>A 0.493011 0.7698 Uncertain 19_3977486_A->G 19 3977486 3977486 A G snp 2295.77 1/1 99 87 0 87 1.0 exonic rs36527 EEF2 AD synonymous SNV NM_001961 exon13 c.T2190C p.Y730Y 0.913139 0.995 0.853484 0.8499 0.9975 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000116940.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 19_3979408_A->G 19 3979408 3979408 A G snp 4267.77 1/1 99 160 0 160 1.0 exonic rs36526 EEF2 AD synonymous SNV NM_001961 exon11 c.T1632C p.H544H 0.913139 0.9931 0.853529 0.8493 0.9980 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000116939.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 19_3980824_A->G 19 3980824 3980824 A G snp 3492.77 1/1 99 117 0 117 1.0 intronic rs36525 EEF2 AD NM_001961 exon8 c.4287-14A>G 0.913538 0.995 0.854057 0.8534 0.9972 Uncertain 19_3985573_-->C 19 3985573 3985573 - C indel 191.73 0/1 99 14 5 9 0.64 upstream rs575526261 EEF2 AD 0.000798722 Uncertain 19_4024020_G->A 19 4024020 4024020 G A snp 6058.77 1/1 99 228 0 228 1.0 intronic rs2028827 PIAS4 AU NM_015897 exon3 c.16275-13G>A 0.83127 0.9534 0.844841 0.8960 0.9592 Uncertain 19_4028067_C->T 19 4028067 4028067 C T snp 4726.77 1/1 99 181 0 181 1.0 intronic rs4520954 PIAS4 AU NM_015897 exon4 c.20385-76C>T 0.846046 0.9554 0.862681 Uncertain 19_4028783_C->T 19 4028783 4028783 C T snp 4645.77 1/1 99 168 0 168 1.0 exonic rs2289863 PIAS4 AU synonymous SNV NM_015897 exon6 c.C738T p.T246T 0.590655 0.9147 0.568122 0.6961 0.9136 Uncertain 19_4032949_A->G 19 4032949 4032949 A G snp 2099.77 1/1 99 64 0 64 1.0 intronic rs895333 PIAS4 AU NM_015897 exon8 c.25339-148A>G 0.897963 0.9514 Uncertain 19_4033244_G->C 19 4033244 4033244 G C snp 1747.77 1/1 99 49 0 49 1.0 intronic rs749449 PIAS4 AU NM_015897 exon8 c.25413+73G>C 0.622404 0.9375 Uncertain 19_4033301_G->A 19 4033301 4033301 G A snp 613.77 1/1 48 16 0 16 1.0 intronic rs895332 PIAS4 AU NM_015897 exon9 c.25659-116G>A 0.897963 0.9514 Uncertain 19_4033462_T->C 19 4033462 4033462 T C snp 5752.77 1/1 99 223 0 223 1.0 exonic rs7255988 PIAS4 AU synonymous SNV NM_015897 exon9 c.T1026C p.C342C 0.898163 0.9514 0.907304 0.9038 0.9570 Uncertain 19_4033614_G->A 19 4033614 4033614 G A snp 3039.77 1/1 99 105 0 105 1.0 intronic rs12460140 PIAS4 AU NM_015897 exon9 c.25820+36G>A 0.650359 0.9444 0.631443 0.7529 0.9545 Uncertain 19_4033718_C->T 19 4033718 4033718 C T snp 136.03 1/1 12 5 0 5 1.0 intronic rs1545347 PIAS4 AU NM_015897 exon9 c.25820+140C>T 0.622204 0.9375 Uncertain 19_4037525_C->T 19 4037525 4037525 C T snp 2865.77 0/1 99 250 126 124 0.5 intronic rs2305106 PIAS4 AU NM_015897 exon10 c.29744+23C>T 0.428514 0.7034 0.455764 0.5596 0.7168 Uncertain 19_4042077_C->A 19 4042077 4042077 C A snp 1045.77 1/1 75 39 0 39 1.0 intergenic rs4410205 PIAS4 AU 0.907748 0.9514 0.9408 0.875 Uncertain 19_4097365_T->G 19 4097365 4097365 T G snp 698.77 0/1 99 65 32 33 0.51 intronic rs146376140 MAP2K2 AU NM_030662 exon4 c.6746+24T>G 0.0001 0.0014 Uncertain 19_4099187_T->C 19 4099187 4099187 T C snp 340.77 0/1 99 19 7 12 0.63 intronic rs350911 MAP2K2 AU NM_030662 exon5 c.8603-11T>C 0.773562 0.9216 0.744129 0.7718 0.9304 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter|criteria_provided\x2c_single_submitter;CLNACC=RCV000039497.2|RCV000126678.1;CLNDSDB=MedGen|MedGen;CLNDSDBID=CN169374|CN221809 Uncertain 19_4101062_G->T 19 4101062 4101062 G T snp 933.77 0/1 99 59 25 34 0.58 exonic rs10250 MAP2K2 AU synonymous SNV NM_030662 exon6 c.C660A p.I220I 0.433307 0.625 0.417937 0.5472 0.6616 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|Rasopathy;CLNREVSTAT=criteria_provided\x2c_single_submitter|no_assertion_criteria_provided;CLNACC=RCV000039490.2|RCV000149846.1;CLNDSDB=MedGen|MedGen;CLNDSDBID=CN169374|CN166718 ID=COSM1481088;OCCURENCE=1(breast) Uncertain 19_4117705_T->C 19 4117705 4117705 T C snp 1823.77 1/1 99 60 0 60 1.0 intronic rs350890 MAP2K2 AU NM_030662 exon10 c.27032+78T>C 0.795727 0.9107 Uncertain 19_4153659_G->A 19 4153659 4153659 G A snp 1710.77 1/1 99 59 0 59 1.0 UTR5 rs350879 CREB3L3 AU 0.868211 0.9196 0.808585 Uncertain 19_4153856_T->C 19 4153856 4153856 T C snp 1308.77 0/1 99 149 92 57 0.38 intronic rs350878 CREB3L3 AU NM_032607 exon1 c.27+85T>C 0.126797 0.252 0.077530 Uncertain 19_4156841_G->A 19 4156841 4156841 G A snp 465.77 0/1 99 30 14 16 0.53 intronic rs350872 CREB3L3 AU NM_032607 exon3 c.3247-150G>A 0.378794 0.2004 Uncertain 19_4156867_C->- 19 4156867 4156867 C - indel 829.73 0/1 99 59 34 25 0.42 intronic rs112691598 CREB3L3 AU NM_032607 exon3 c.3247-124delC 0.485024 0.7192 Uncertain 19_4156869_C->T 19 4156869 4156869 C T snp 705.77 0/1 99 67 39 28 0.42 intronic rs63310862 CREB3L3 AU NM_032607 exon3 c.3247-122C>T 0.488618 0.7183 Uncertain 19_4156881_G->A 19 4156881 4156881 G A snp 921.77 0/1 99 92 54 38 0.41 intronic rs350871 CREB3L3 AU NM_032607 exon3 c.3247-110G>A 0.493011 0.7192 Uncertain 19_4159509_C->T 19 4159509 4159509 C T snp 502.77 0/1 99 26 7 19 0.73 intronic rs66603362 CREB3L3 AU NM_032607 exon4 c.5916-151C>T 0.104233 0.0536 Uncertain 19_4169998_G->A 19 4169998 4169998 G A snp 296.78 1/1 24 8 0 8 1.0 intronic rs350852 CREB3L3 AU NM_032607 exon7 c.16392-138G>A 0.852037 0.6746 Uncertain 19_4170378_G->A 19 4170378 4170378 G A snp 1562.77 1/1 99 50 0 50 1.0 intronic rs350851 CREB3L3 AU NM_032607 exon7 c.16461+173G>A 0.841254 0.6518 Uncertain 19_4171972_G->A 19 4171972 4171972 G A snp 478.77 0/1 99 29 10 19 0.66 UTR3 rs352117 CREB3L3 AU 0.155152 0.2996 0.045189 0.1771 0.4012 Uncertain 19_4174950_A->G 19 4174950 4174950 A G snp 3653.77 1/1 99 138 0 138 1.0 intronic rs350845 SIRT6 AU NM_016539 exon1 c.330+7A>G 0.85643 0.6935 0.906053 0.8643 0.7110 Uncertain 19_4176085_T->C 19 4176085 4176085 T C snp 455.77 1/1 36 13 0 13 1.0 intronic rs107251 SIRT6 AU NM_016539 exon4 c.1321+151T>C 0.855032 0.6935 Uncertain 19_4177051_A->G 19 4177051 4177051 A G snp 1852.77 1/1 99 65 0 65 1.0 intronic rs350844 SIRT6 AU NM_016539 exon5 c.2462-24A>G 0.855831 0.6935 0.906274 0.8683 0.7123 Uncertain 19_4177331_A->C 19 4177331 4177331 A C snp 549.77 1/1 42 17 0 17 1.0 intronic rs350843 SIRT6 AU NM_016539 exon5 c.2522+196A>C 0.851038 0.6647 Uncertain 19_4180690_T->G 19 4180690 4180690 T G snp 1732.77 0/1 99 145 75 70 0.48 intronic rs7260071 SIRT6 AU NM_016539 exon7 c.6165-88T>G 0.73103 0.7014 Uncertain 19_4180836_C->T 19 4180836 4180836 C T snp 1943.77 0/1 99 145 70 75 0.52 exonic rs352493 SIRT6 AU nonsynonymous SNV NM_016539 exon2 c.G137A p.S46N 0.840855 0.7093 0.943411 0.8903 0.7181 0.53 T 0.000 P -1.056 T 0.0 T 0.001 T Pathogenic 19_4198463_G->A 19 4198463 4198463 G A snp 360.78 1/1 27 16 0 16 1.0 intronic rs74178438 ANKRD24 AU NM_133475 exon3 c.13257-1216G>A 0.202875 0.3452 0.3064 0.3934 Uncertain 19_4202683_T->C 19 4202683 4202683 T C snp 317.78 1/1 24 13 0 13 1.0 intronic rs352513 ANKRD24 AU NM_133475 exon7 c.16443-182T>C 0.998403 1 Uncertain 19_4207161_A->T 19 4207161 4207161 A T snp 550.77 1/1 42 15 0 15 1.0 intronic rs34976536 ANKRD24 AU NM_133475 exon8 c.20816-77A>T 0.402356 0.3462 0.4775 0.4573 Uncertain 19_4207940_G->A 19 4207940 4207940 G A snp 4624.77 1/1 99 180 0 180 1.0 exonic rs2240669 ANKRD24 AU synonymous SNV NM_133475 exon10 c.G807A p.A269A 0.195687 0.3423 0.136468 0.2833 0.4013 Uncertain 19_4208082_T->C 19 4208082 4208082 T C snp 1183.77 1/1 87 38 0 38 1.0 intronic rs2240670 ANKRD24 AU NM_133475 exon10 c.21543+117T>C 0.747005 0.6726 Uncertain 19_4209918_C->G 19 4209918 4209918 C G snp 222.84 1/1 18 6 0 6 1.0 intronic rs10402675 ANKRD24 AU NM_133475 exon12 c.23632-136C>G 0.726837 0.6706 Uncertain 19_4209930_GCT->- 19 4209930 4209932 GCT - indel 488.74 1/1 27 9 0 9 1.0 intronic rs55840328 ANKRD24 AU NM_133475 exon12 c.23632-124_23632-122delGCT 0.726637 0.6696 Uncertain 19_4210356_G->A 19 4210356 4210356 G A snp 1720.77 1/1 99 67 0 67 1.0 exonic rs12978469 ANKRD24 AU nonsynonymous SNV NM_133475 exon13 c.G1046A p.R349Q 0.612819 0.6687 0.620048 0.6317 0.6922 0.09 T 0.0 P -0.984 T 0.109 T 0.009 T Pathogenic 19_4210401_-->A 19 4210401 4210401 - A indel 1735.73 1/1 99 45 0 45 1.0 intronic rs397942985 ANKRD24 AU NM_133475 exon13 c.23947+32insA 0.726837 0.6706 0.760601 0.7541 0.6777 Uncertain 19_4210465_A->G 19 4210465 4210465 A G snp 432.77 1/1 33 16 0 16 1.0 intronic rs12710072 ANKRD24 AU NM_133475 exon13 c.23947+96A>G 0.726637 0.6706 Uncertain 19_4216269_G->A 19 4216269 4216269 G A snp 2211.77 1/1 99 81 0 81 1.0 intronic rs12459920 ANKRD24 AU NM_133475 exon17 c.29858-11G>A 0.205671 0.3343 0.138870 0.2308 0.3371 Uncertain 19_4216910_G->A 19 4216910 4216910 G A snp 1437.77 1/1 99 50 0 50 1.0 exonic rs10413818 ANKRD24 AU nonsynonymous SNV NM_133475 exon18 c.G1753A p.E585K 0.711661 0.8006 0.723845 0.7513 0.8109 0.36 T 0.0 P -0.965 T 0.053 T 0.008 T Pathogenic 19_4217207_T->G 19 4217207 4217207 T G snp 2737.77 1/1 99 94 0 94 1.0 exonic rs353693 ANKRD24 AU nonsynonymous SNV NM_133475 exon18 c.T2050G p.S684A 0.97504 1 0.943187 0.9473 0.9999 1 T 0.0 P -0.996 T 0.0 T 0.0 T Pathogenic 19_4217510_A->T 19 4217510 4217510 A T snp 889.77 1/1 66 31 0 31 1.0 exonic rs12980998 ANKRD24 AU nonsynonymous SNV NM_133475 exon18 c.A2353T p.T785S 0.269768 0.3373 0.2961 . 0.68 T 0.0 P -0.915 T 0.003 T 0.003 T Pathogenic 19_4217956_A->G 19 4217956 4217956 A G snp 480.77 0/1 99 50 27 23 0.46 exonic rs6510794 ANKRD24 AU synonymous SNV NM_133475 exon18 c.A2799G p.A933A 0.450479 0.4692 0.379112 0.4253 0.5425 Uncertain 19_4229635_A->G 19 4229635 4229635 A G snp 2802.77 1/1 99 106 0 106 1.0 intronic rs400089 EBI3 AU NM_005755 exon1 c.67+21A>G 0.631789 0.5258 0.643693 0.5870 0.5365 Uncertain 19_4247005_G->C 19 4247005 4247005 G C snp 1090.77 0/1 99 86 40 46 0.53 upstream rs2302164 CCDC94 AU 0.126398 0.2163 Uncertain 19_4297968_C->T 19 4297968 4297968 C T snp 3320.77 1/1 99 119 0 119 1.0 intronic rs6510801 TMIGD2 AU NM_144615 exon4 c.5387-14C>T 0.466054 0.5585 0.433492 0.3796 0.5775 Uncertain 19_4304774_G->A 19 4304774 4304774 G A snp 472.77 0/1 99 30 13 17 0.57 intronic rs17523436 FSD1 AU NM_024333 exon1 c.15+16G>A 0.519169 0.4306 0.6522 . Uncertain 19_4304855_A->G 19 4304855 4304855 A G snp 236.77 0/1 99 13 4 9 0.69 intronic rs62129299 FSD1 AU NM_024333 exon1 c.15+97A>G 0.546725 0.4286 Uncertain 19_4306311_T->C 19 4306311 4306311 T C snp 1279.77 0/1 99 95 42 53 0.56 exonic rs4807578 FSD1 AU synonymous SNV NM_024333 exon3 c.T228C p.R76R 0.583267 0.4107 0.620790 0.6221 0.3978 Uncertain 19_4312103_C->A 19 4312103 4312103 C A snp 452.77 0/1 99 25 8 17 0.68 intronic rs3745989 FSD1 AU NM_024333 exon7 c.7305+55C>A 0.21905 0.5486 Uncertain 19_4325115_G->A 19 4325115 4325115 G A snp 137.03 1/1 12 5 0 5 1.0 intronic rs2002349 STAP2 AU NM_017720 exon3 c.1083-97G>A 0.46905 0.6329 Uncertain 19_4325327_G->A 19 4325327 4325327 G A snp 4242.77 1/1 99 159 0 159 1.0 intronic rs10411394 STAP2 AU NM_017720 exon3 c.1176+22G>A 0.519968 0.6329 0.483546 0.4614 0.6161 Uncertain 19_4325433_G->A 19 4325433 4325433 G A snp 3561.77 1/1 99 133 0 133 1.0 exonic rs1138253 STAP2 AU synonymous SNV NM_001013841 exon10 c.C939T p.P313P 0.519968 0.6339 0.483700 0.4613 0.6168 Uncertain 19_4328860_T->C 19 4328860 4328860 T C snp 3446.77 1/1 99 127 0 127 1.0 intronic rs11882358 STAP2 AU NM_017720 exon8 c.4677+54T>C 0.613618 0.6478 Uncertain 19_4330195_G->C 19 4330195 4330195 G C snp 195.77 0/1 99 12 5 7 0.58 intronic rs372250169 STAP2 AU NM_017720 exon9 c.5929+137G>C 0.00419329 0.0188 Uncertain 19_4331941_AAAG->- 19 4331941 4331944 AAAG - indel 1698.73 1/1 84 30 0 30 1.0 intronic rs145454096 STAP2 AU NM_017720 exon10 c.7889-77_7889-74delAAAG 0.389776 0.5982 ID=COSN168926;OCCURENCE=1(large_intestine) Uncertain 19_4332105_A->T 19 4332105 4332105 A T snp 1575.77 1/1 99 62 0 62 1.0 intronic rs7258060 STAP2 AU NM_017720 exon10 c.7942+34A>T 0.369409 0.5982 0.342534 0.3267 0.5800 Uncertain 19_4333666_T->C 19 4333666 4333666 T C snp 379.77 1/1 30 12 0 12 1.0 intronic rs10413905 STAP2 AU NM_017720 exon11 c.9557-20T>C 0.371206 0.5982 0.344380 0.3309 0.5761 Uncertain 19_4333711_C->T 19 4333711 4333711 C T snp 562.77 1/1 42 20 0 20 1.0 exonic rs7247504 STAP2 AU nonsynonymous SNV NM_001013841 exon3 c.G277A p.D93N 0.655551 0.7044 0.609103 0.5880 0.7060 0 D 0.0 P -1.005 T 0.0 T 0.001 T Pathogenic 19_4338587_AGAG->- 19 4338587 4338590 AGAG - indel 2153.73 1/1 93 31 0 31 1.0 intronic rs35303066 STAP2 AU NM_017720 exon13 c.14519-61_14519-58delAGAG 0.304113 0.5704 Uncertain 19_4357555_A->G 19 4357555 4357555 A G snp 1710.77 1/1 99 58 0 58 1.0 exonic rs4807583 MPND AU synonymous SNV NM_001159846 exon8 c.A1059G p.S353S 0.989816 1 0.984009 0.9827 0.9999 Uncertain 19_4402840_G->A 19 4402840 4402840 G A snp 139.03 1/1 12 5 0 5 1.0 intronic rs77734548 CHAF1A AU NM_005483 exon1 c.52+29G>A 0.295327 0.2857 0 . Uncertain 19_4408751_A->G 19 4408751 4408751 A G snp 1031.77 1/1 78 31 1 30 0.97 intronic rs243347 CHAF1A AU NM_005483 exon3 c.6140-148A>G 0.967652 0.9484 Uncertain 19_4442999_T->G 19 4442999 4442999 T G snp 2819.77 1/1 99 99 0 99 1.0 exonic rs243383 CHAF1A AU nonsynonymous SNV NM_005483 exon15 c.T2848G p.S950A 0.969848 0.9494 0.982913 0.9809 0.9680 0 D 0.0 P -0.962 T 0.0 T 0.0 T Pathogenic 19_4453235_C->T 19 4453235 4453235 C T snp 509.77 1/1 39 13 0 13 1.0 intronic rs72990638 UBXN6 AU NM_001171091 exon9 c.7960-219C>T 0.304113 0.2857 Uncertain 19_4453324_T->C 19 4453324 4453324 T C snp 2248.77 1/1 99 82 0 82 1.0 intronic rs376965 UBXN6 AU NM_001171091 exon9 c.7960-130T>C 0.969649 0.9494 Uncertain 19_4454000_G->A 19 4454000 4454000 G A snp 2531.77 1/1 99 101 0 101 1.0 exonic rs11909 UBXN6 AU synonymous SNV NM_025241 exon2 c.C174T p.A58A 0.312101 0.2867 0.365580 0.3798 0.3156 Uncertain 19_4457457_C->G 19 4457457 4457457 C G snp 141.03 1/1 12 4 0 4 1.0 intronic rs10425294 UBXN6 AU NM_025241 exon11 c.12117-154C>G 1 1 Uncertain 19_4457458_G->C 19 4457458 4457458 G C snp 176.9 1/1 15 5 0 5 1.0 intronic rs10423797 UBXN6 AU NM_025241 exon11 c.12117-153G>C 1 1 Uncertain 19_4457496_C->G 19 4457496 4457496 C G snp 881.77 1/1 68 28 1 27 0.96 intronic rs10425328 UBXN6 AU NM_025241 exon11 c.12117-115C>G 0.9998 1 Uncertain 19_4457497_G->C 19 4457497 4457497 G C snp 933.77 1/1 69 29 1 28 0.97 intronic rs10423822 UBXN6 AU NM_025241 exon11 c.12117-114G>C 1 1 Uncertain 19_4472322_C->T 19 4472322 4472322 C T snp 587.77 0/1 99 52 22 30 0.58 UTR5 rs61606737 HDGFRP2 AU 0.286542 0.0883 0.278670 0.3058 0.1694 Uncertain 19_4475362_T->G 19 4475362 4475362 T G snp 2434.77 0/1 99 217 109 108 0.5 intronic rs2288932 HDGFRP2 AU NM_032631 exon2 c.3001+14T>G 0.176118 0.0883 0.184946 0.1784 0.0933 Uncertain 19_4488632_C->T 19 4488632 4488632 C T snp 101.77 0/1 99 8 4 4 0.5 intronic rs10422594 HDGFRP2 AU NM_032631 exon4 c.16325-40C>T 0.173323 0.0843 0.151086 0.2349 0.0649 Uncertain 19_4488926_G->A 19 4488926 4488926 G A snp 986.77 0/1 99 68 31 37 0.54 intronic rs10421685 HDGFRP2 AU NM_032631 exon4 c.16526+53G>A 0.637979 0.4296 Uncertain 19_4491476_G->C 19 4491476 4491476 G C snp 289.77 0/1 99 22 12 10 0.45 intronic rs11878416 HDGFRP2 AU NM_032631 exon5 c.19215-86G>C 0.644169 0.4296 Uncertain 19_4493708_A->G 19 4493708 4493708 A G snp 509.77 0/1 99 42 23 19 0.45 exonic rs892161 HDGFRP2 AU synonymous SNV NM_001001520 exon7 c.A687G p.P229P 0.582069 0.4236 0.644705 0.6431 0.4797 Uncertain 19_4496198_A->G 19 4496198 4496198 A G snp 778.77 0/1 99 64 31 33 0.52 intronic rs2288930 HDGFRP2 AU NM_032631 exon10 c.23951-100A>G 0.641374 0.4266 Uncertain 19_4498212_A->C 19 4498212 4498212 A C snp 173.77 0/1 99 16 9 7 0.44 intronic rs2288927 HDGFRP2 AU NM_032631 exon12 c.25955-90A>C 0.135982 0.0843 Uncertain 19_4498245_A->G 19 4498245 4498245 A G snp 262.77 0/1 99 22 11 11 0.5 intronic rs2288926 HDGFRP2 AU NM_032631 exon12 c.25955-57A>G 0.640775 0.4385 0.704555 Uncertain 19_4498440_T->C 19 4498440 4498440 T C snp 841.77 0/1 99 83 43 40 0.48 intronic rs2288924 HDGFRP2 AU NM_032631 exon12 c.26026+67T>C 0.496406 0.5923 0.441305 Uncertain 19_4498700_A->T 19 4498700 4498700 A T snp 187.77 0/1 99 11 5 6 0.55 intronic rs10406139 HDGFRP2 AU NM_032631 exon13 c.26463-110A>T 0.795128 0.9147 Uncertain 19_4499023_C->T 19 4499023 4499023 C T snp 435.77 0/1 99 31 17 14 0.45 intronic rs67274054 HDGFRP2 AU NM_032631 exon13 c.26565+111C>T 0.367612 0.5754 Uncertain 19_4499633_AGCTGGCCGGGGAGG->- 19 4499633 4499647 AGCTGGCCGGGGAGG - indel 8168.73 1/1 99 135 0 135 1.0 exonic rs34068770 HDGFRP2 AU frameshift deletion NM_001001520 exon14 c.1721_1722del p.K574fs 0.517772 0.5476 0.967614 0.9710 0.9724 ID=COSM1325270;OCCURENCE=2(breast),1(ovary) Pathogenic 19_4502079_C->T 19 4502079 4502079 C T snp 441.77 0/1 99 37 17 20 0.54 UTR3 rs77573115 HDGFRP2 AU 0.00479233 0.0208 0.0004 0.0227 Uncertain 19_4508945_A->G 19 4508945 4508945 A G snp 4346.77 1/1 99 165 0 165 1.0 exonic rs8105775 PLIN4 AU synonymous SNV NM_001080400 exon4 c.T3495C p.P1165P 0.998403 1 0.998686 0.9975 1 Uncertain 19_4510560_C->T 19 4510560 4510560 C T snp 5857.77 1/1 99 220 2 218 0.99 exonic rs7251858 PLIN4 AU nonsynonymous SNV NM_001080400 exon3 c.G3370A p.A1124T 0.354633 0.5645 0.297433 0.3540 0.5423 0.32 T 0.0 P -0.996 T 0.9 T 0.452 P Pathogenic 19_4511140_C->G 19 4511140 4511140 C G snp 7742.77 1/1 99 250 2 248 0.99 exonic rs7255715 PLIN4 AU synonymous SNV NM_001080400 exon3 c.G2790C p.G930G 0.611222 0.6577 0.580839 0.5680 0.6645 Uncertain 19_4511278_C->T 19 4511278 4511278 C T snp 2264.77 0/1 99 123 50 73 0.59 exonic rs10422078 PLIN4 AU synonymous SNV NM_001080400 exon3 c.G2652A p.V884V 0.00119808 0.3956 0.4448 Uncertain 19_4511281_G->A 19 4511281 4511281 G A snp 1686.77 0/1 99 124 63 61 0.49 exonic rs7254934 PLIN4 AU synonymous SNV NM_001080400 exon3 c.C2649T p.A883A 0.25619 0.2073 0.4875 0.4915 Uncertain 19_4511283_C->T 19 4511283 4511283 C T snp 1673.77 0/1 99 122 64 58 0.48 exonic rs80238130 PLIN4 AU nonsynonymous SNV NM_001080400 exon3 c.G2647A p.A883T 0.00159744 0.3949 0.4416 0.63 T 1 N -0.938 T 0.0 T 0.001 T Pathogenic 19_4511284_A->G 19 4511284 4511284 A G snp 1737.77 0/1 99 123 65 58 0.47 exonic rs10422854 PLIN4 AU synonymous SNV NM_001080400 exon3 c.T2646C p.D882D 0.00678914 0.3966 0.4447 Uncertain 19_4511350_T->A 19 4511350 4511350 T A snp 7506.77 1/1 99 242 2 240 0.99 exonic rs7259721 PLIN4 AU nonsynonymous SNV NM_001080400 exon3 c.A2580T p.K860N 0.6638 0.7376 1 T 0.0 P -0.935 T 0.0 T 0.0 T Pathogenic 19_4511453_G->A 19 4511453 4511453 G A snp 8022.77 1/1 99 249 0 249 1.0 exonic rs7255187 PLIN4 AU nonsynonymous SNV NM_001080400 exon3 c.C2477T p.A826V 0.892372 0.9752 0.869801 0.8851 0.9782 0.82 T 0.0 P -1.011 T 0.0 T 0.001 T Pathogenic 19_4511491_A->G 19 4511491 4511491 A G snp 1764.77 0/1 99 248 166 82 0.33 exonic rs10423324 PLIN4 AU synonymous SNV NM_001080400 exon3 c.T2439C p.G813G 0.0043 0.0109 Uncertain 19_4511525_A->G 19 4511525 4511525 A G snp 7916.77 1/1 99 249 1 248 1.0 exonic rs7256712 PLIN4 AU nonsynonymous SNV NM_001080400 exon3 c.T2405C p.M802T 0.932109 0.9762 0.8974 0.9782 0.6 T 0.0 P -0.946 T 0.0 T 0.0 T Pathogenic 19_4511575_C->G 19 4511575 4511575 C G snp 998.77 0/1 99 236 193 43 0.18 exonic rs62115185 PLIN4 AU synonymous SNV NM_001080400 exon3 c.G2355C p.V785V 0.266773 0.3204 0.2531 0.3521 Uncertain 19_4511578_A->G 19 4511578 4511578 A G snp 1058.77 0/1 99 240 189 51 0.21 exonic rs62115186 PLIN4 AU synonymous SNV NM_001080400 exon3 c.T2352C p.A784A 0.266773 0.3204 0.2259 0.3394 Uncertain 19_4511580_C->T 19 4511580 4511580 C T snp 947.77 0/1 99 244 204 40 0.16 exonic rs78884463 PLIN4 AU nonsynonymous SNV NM_001080400 exon3 c.G2350A p.A784T 0.266773 0.3204 0.2144 0.3220 1 T 1 N -0.923 T 0.0 T 0.001 T Pathogenic 19_4511581_A->G 19 4511581 4511581 A G snp 988.77 0/1 99 246 202 44 0.18 exonic rs75029810 PLIN4 AU synonymous SNV NM_001080400 exon3 c.T2349C p.D783D 0.266773 0.3204 0.2180 0.3288 Uncertain 19_4511598_A->G 19 4511598 4511598 A G snp 510.77 0/1 99 238 204 34 0.14 exonic rs76022477 PLIN4 AU synonymous SNV NM_001080400 exon3 c.T2332C p.L778L 0.0672923 0.0516 0.0884 0.1594 Uncertain 19_4511599_C->G 19 4511599 4511599 C G snp 404.77 0/1 99 237 211 26 0.11 exonic rs78467378 PLIN4 AU synonymous SNV NM_001080400 exon3 c.G2331C p.V777V 0.053115 0.0516 0.0880 0.1588 Uncertain 19_4511647_C->G 19 4511647 4511647 C G snp 6795.77 1/1 99 241 1 240 1.0 exonic rs7256387 PLIN4 AU nonsynonymous SNV NM_001080400 exon3 c.G2283C p.K761N 0.841853 0.9752 0.820552 0.8443 0.9603 1 T 0.0 P -0.876 T 0.0 T 0.0 T Pathogenic 19_4511674_C->T 19 4511674 4511674 C T snp 1103.77 0/1 99 209 159 50 0.24 exonic rs775085816 PLIN4 AU synonymous SNV NM_001080400 exon3 c.G2256A p.V752V 0.0013 0.0008 Uncertain 19_4511677_A->G 19 4511677 4511677 A G snp 1101.77 0/1 99 203 154 49 0.24 exonic rs28546567 PLIN4 AU synonymous SNV NM_001080400 exon3 c.T2253C p.A751A 0.0245607 0.0107 0.0047 Uncertain 19_4511679_C->T 19 4511679 4511679 C T snp 1099.77 0/1 99 199 150 49 0.25 exonic rs200355083 PLIN4 AU nonsynonymous SNV NM_001080400 exon3 c.G2251A p.A751T 0.0043 0.0047 0.69 T 1 N -0.912 T 0.0 T 0.001 T Pathogenic 19_4511680_A->G 19 4511680 4511680 A G snp 1221.77 0/1 99 202 148 54 0.27 exonic rs759223445 PLIN4 AU synonymous SNV NM_001080400 exon3 c.T2250C p.D750D 0.0046 0.0053 Uncertain 19_4511725_T->C 19 4511725 4511725 T C snp 7304.77 1/1 99 250 1 249 1.0 exonic rs73920825 PLIN4 AU synonymous SNV NM_001080400 exon3 c.A2205G p.Q735Q 0.874002 0.9762 0.8536 0.9613 Uncertain 19_4511730_T->C 19 4511730 4511730 T C snp 6983.77 1/1 99 243 1 242 1.0 exonic rs62115190 PLIN4 AU nonsynonymous SNV NM_001080400 exon3 c.A2200G p.I734V 0.842252 0.9752 0.8447 0.9611 0.89 T 0.0 P -1.006 T 0.0 T 0.001 T Pathogenic 19_4511737_T->C 19 4511737 4511737 T C snp 6762.77 0/1 99 250 25 225 0.9 exonic rs57610751 PLIN4 AU synonymous SNV NM_001080400 exon3 c.A2193G p.K731K 0.4759 0.5201 Uncertain 19_4511830_A->G 19 4511830 4511830 A G snp 3715.77 0/1 99 250 111 139 0.56 exonic rs7257142 PLIN4 AU synonymous SNV NM_001080400 exon3 c.T2100C p.T700T 0.5003 0.4999 Uncertain 19_4511908_C->T 19 4511908 4511908 C T snp 5860.77 0/1 99 250 48 202 0.81 exonic rs10423606 PLIN4 AU synonymous SNV NM_001080400 exon3 c.G2022A p.T674T 0.3373 0.4033 Uncertain 19_4511920_T->C 19 4511920 4511920 T C snp 762.77 0/1 99 250 208 42 0.17 exonic rs28460600 PLIN4 AU synonymous SNV NM_001080400 exon3 c.A2010G p.T670T 0.4520 0.4629 Uncertain 19_4511927_G->A 19 4511927 4511927 G A snp 7777.77 1/1 99 244 1 243 1.0 exonic rs10422025 PLIN4 AU nonsynonymous SNV NM_001080400 exon3 c.C2003T p.A668V 0.572284 0.6716 0.5530 0.6459 1 T 0.0 P -1.000 T 0.0 T 0.001 T Pathogenic 19_4511929_A->G 19 4511929 4511929 A G snp 8077.77 1/1 99 246 2 244 0.99 exonic rs10424401 PLIN4 AU synonymous SNV NM_001080400 exon3 c.T2001C p.A667A 0.623403 0.6845 0.5644 0.6667 Uncertain 19_4511935_T->C 19 4511935 4511935 T C snp 200.77 0/1 99 250 225 25 0.1 exonic rs113821070 PLIN4 AU synonymous SNV NM_001080400 exon3 c.A1995G p.K665K 0.3191 0.3994 Uncertain 19_4511955_T->C 19 4511955 4511955 T C snp 8452.77 1/1 99 250 1 249 1.0 exonic rs7260518 PLIN4 AU nonsynonymous SNV NM_001080400 exon3 c.A1975G p.S659G 0.879992 0.9345 0.889085 0.8060 0.7743 1 T 0.0 P -1.034 T 0.0 T 0.0 T Pathogenic 19_4512669_T->C 19 4512669 4512669 T C snp 7362.77 1/1 99 248 1 247 1.0 exonic rs55901236 PLIN4 AU nonsynonymous SNV NM_001080400 exon3 c.A1261G p.T421A 0.454073 0.7153 0.430920 0.5265 0.6838 0.16 T 0.0 P -1.028 T 0.009 T 0.008 T Pathogenic 19_4513143_C->T 19 4513143 4513143 C T snp 4358.77 1/1 99 208 16 192 0.92 exonic rs4807595 PLIN4 AU nonsynonymous SNV NM_001080400 exon3 c.G787A p.G263S 0.911741 0.9117 0.9286 0.9563 0.01 T 0.000 P -1.066 T 0.576 P 0.203 P Pathogenic 19_4513144_A->G 19 4513144 4513144 A G snp 4369.77 1/1 99 209 17 192 0.92 exonic rs4807596 PLIN4 AU synonymous SNV NM_001080400 exon3 c.T786C p.T262T 0.917532 0.9147 0.9297 0.9557 Uncertain 19_4513559_A->G 19 4513559 4513559 A G snp 4664.77 1/1 99 153 0 153 1.0 exonic rs4807597 PLIN4 AU nonsynonymous SNV NM_001080400 exon3 c.T371C p.V124A 0.962061 0.9772 0.965904 0.9546 0.9797 0.62 T 0.0 P -0.994 T 0.0 T 0.002 T Pathogenic 19_4529622_-->ACAC 19 4529622 4529622 - ACAC indel 258.87 1/1 15 5 0 5 1.0 intronic rs533772328 PLIN5 AU NM_001013706 exon5 c.6256-173insACAC 0.205471 0.2232 0.0301 0.0385 Uncertain 19_4538599_G->A 19 4538599 4538599 G A snp 1101.77 0/1 99 93 44 49 0.53 exonic rs966384 LRG1 AU nonsynonymous SNV NM_052972 exon2 c.C397T p.P133S 0.320288 0.5308 0.257613 0.3624 0.5375 0.4 T 0.0 P -0.992 T 0.267 T 0.116 T Pathogenic 19_4544579_G->T 19 4544579 4544579 G T snp 234.77 0/1 99 27 16 11 0.41 intronic rs747645668 SEMA6B AU NM_032108 exon1 c.929+38G>T 0.0002 0.0025 Uncertain 19_4547898_G->C 19 4547898 4547898 G C snp 44.74 1/1 6 2 0 2 1.0 intronic rs4807600 SEMA6B AU NM_032108 exon4 c.4426-140G>C 0.721446 0.8948 Uncertain 19_4547917_A->G 19 4547917 4547917 A G snp 136.03 1/1 12 5 0 5 1.0 intronic rs4807601 SEMA6B AU NM_032108 exon4 c.4426-121A>G 0.697284 0.8948 Uncertain 19_4548015_G->A 19 4548015 4548015 G A snp 890.77 1/1 66 32 0 32 1.0 intronic rs4807602 SEMA6B AU NM_032108 exon4 c.4426-23G>A 0.63099 0.8938 0.515630 0.5979 0.8945 Uncertain 19_4548245_C->A 19 4548245 4548245 C A snp 7764.77 1/1 99 250 1 249 1.0 intronic rs10853972 SEMA6B AU NM_032108 exon5 c.4662-29C>A 0.502796 0.8938 0.367523 0.5006 0.8939 Uncertain 19_4550698_C->T 19 4550698 4550698 C T snp 390.77 1/1 30 12 0 12 1.0 intronic rs2043328 SEMA6B AU NM_032108 exon7 c.7198-112C>T 0.942093 0.9831 Uncertain 19_4552673_C->T 19 4552673 4552673 C T snp 614.77 0/1 99 48 26 22 0.46 intronic rs45579944 SEMA6B AU NM_032108 exon8 c.9039+22C>T 0.161342 0.1429 0.095345 0.0965 0.1598 Uncertain 19_4554583_A->C 19 4554583 4554583 A C snp 2190.77 1/1 99 70 0 70 1.0 intronic rs1610094 SEMA6B AU NM_032108 exon9 c.10876+95A>C 0.719848 0.8383 Uncertain 19_4554886_T->C 19 4554886 4554886 T C snp 1733.77 0/1 99 143 70 73 0.51 intronic rs10408176 SEMA6B AU NM_032108 exon10 c.11375-101T>C 0.319289 0.2659 Uncertain 19_4555310_T->C 19 4555310 4555310 T C snp 570.77 1/1 42 18 0 18 1.0 intronic rs10853973 SEMA6B AU NM_032108 exon11 c.11873-175T>C 0.870208 0.8938 Uncertain 19_4556816_C->A 19 4556816 4556816 C A snp 41.77 0/1 70 4 2 2 0.5 intronic rs62115778 SEMA6B AU NM_032108 exon13 c.13350-146C>A 0.182907 0.2242 Uncertain 19_4557056_A->C 19 4557056 4557056 A C snp 3730.77 1/1 99 129 0 129 1.0 intronic rs10422881 SEMA6B AU NM_032108 exon13 c.13413+31A>C 0.827476 0.8254 0.804876 0.7665 0.8127 Uncertain 19_4557299_C->T 19 4557299 4557299 C T snp 1700.77 0/1 99 130 55 75 0.58 intronic rs17434453 SEMA6B AU NM_032108 exon14 c.13623+64C>T 0.139976 0.1865 0.120253 Uncertain 19_4557437_C->T 19 4557437 4557437 C T snp 199.77 0/1 99 14 5 9 0.64 intronic rs11673058 SEMA6B AU NM_032108 exon14 c.13623+202C>T 0.163938 0.119 Uncertain 19_4558431_C->G 19 4558431 4558431 C G snp 354.77 0/1 99 26 14 12 0.46 exonic rs2304213 SEMA6B AU synonymous SNV NM_032108 exon2 c.G39C p.L13L 0.466454 0.5952 0.372188 0.5782 0.6528 Uncertain 19_4660075_C->T 19 4660075 4660075 C T snp 2672.77 0/1 99 235 116 119 0.51 intronic rs60519817 MYDGF AU NM_019107 exon2 c.1999+60C>T 0.028754 0.123 0.001752 Uncertain 19_4714044_T->C 19 4714044 4714044 T C snp 128.77 0/1 99 20 14 6 0.3 intronic rs2277733 DPP9 AU NM_139159 exon19 c.37517-48T>C 0.439696 0.2927 0.381302 0.3322 0.3090 Uncertain 19_4720031_-->CCT 19 4720031 4720031 - CCT indel 404.73 0/1 99 27 12 15 0.56 intronic rs113207929 DPP9 AU NM_139159 exon20 c.43378+78insCCT 0.616813 0.4276 Uncertain 19_4720042_G->T 19 4720042 4720042 G T snp 209.77 0/1 99 20 11 9 0.45 intronic rs11672100 DPP9 AU NM_139159 exon20 c.43378+89G>T 0.617412 0.4276 Uncertain 19_4720052_-->C 19 4720052 4720052 - C indel 155.73 0/1 99 17 8 9 0.53 intronic rs3833277 DPP9 AU NM_139159 exon20 c.43378+99insC 0.594449 0.4276 Uncertain 19_4723670_C->A 19 4723670 4723670 C A snp 506.77 1/1 39 16 1 15 0.94 intronic rs2277732 DPP9 AU NM_139159 exon22 c.47110-15C>A 0.179912 0.1409 0.5 . Uncertain 19_4769740_C->A 19 4769740 4769740 C A snp 4763.77 1/1 99 178 1 177 0.99 ncRNA_exonic rs11878617 MIR7-3HG AU 0.388379 0.6677 0.292378 0.3305 0.7318 Uncertain 19_4772449_C->T 19 4772449 4772449 C T snp 1769.77 1/1 99 50 0 50 1.0 ncRNA_exonic rs2885717 MIR7-3HG AU 0.448283 0.6746 Uncertain 19_4772463_C->T 19 4772463 4772463 C T snp 1059.77 1/1 78 28 0 28 1.0 ncRNA_exonic rs3760951 MIR7-3HG AU 0.465855 0.6746 Uncertain 19_4816241_G->A 19 4816241 4816241 G A snp 454.77 0/1 99 52 32 20 0.38 UTR3 rs1046673 TICAM1 AU 0.163938 0.0675 0.199370 0.1449 0.0852 Uncertain 19_4817288_-->AGG 19 4817288 4817288 - AGG indel 814.73 0/1 99 56 21 35 0.63 exonic rs11466722 TICAM1 AU nonframeshift insertion NM_182919 exon2 c.1101_1102insCCT p.S368delinsPS 0.159345 0.0665 0.1391 0.0879 Uncertain 19_4818378_T->C 19 4818378 4818378 T C snp 1348.77 0/1 99 104 47 57 0.55 exonic rs7255265 TICAM1 AU synonymous SNV NM_182919 exon2 c.A12G p.T4T 0.725639 0.5893 0.731510 0.6652 0.5743 Uncertain 19_4847713_A->G 19 4847713 4847713 A G snp 1774.77 1/1 99 59 0 59 1.0 exonic rs9973235 PLIN3 AU nonsynonymous SNV NM_001164189 exon6 c.T824C p.V275A 0.895168 0.8948 0.873230 0.8666 0.8996 0.45 T 0.0 P -1.058 T 0.0 T 0.0 T Pathogenic 19_4847733_A->G 19 4847733 4847733 A G snp 954.77 0/1 99 79 40 39 0.49 exonic rs201725222 PLIN3 AU synonymous SNV NM_001164189 exon6 c.T804C p.A268A 0.000599042 0.003 0.0001 0.0016 Uncertain 19_4847874_A->G 19 4847874 4847874 A G snp 4263.77 1/1 99 157 0 157 1.0 exonic rs9304915 PLIN3 AU synonymous SNV NM_001164189 exon6 c.T663C p.F221F 0.865815 0.8948 0.852914 0.8581 0.9071 Uncertain 19_4852106_A->G 19 4852106 4852106 A G snp 7573.77 1/1 99 250 0 250 1.0 exonic rs2271058 PLIN3 AU synonymous SNV NM_001164189 exon5 c.T556C p.L186L 0.879792 0.8938 0.860757 0.8686 0.9072 Uncertain 19_4852137_C->T 19 4852137 4852137 C T snp 7425.77 1/1 99 250 0 250 1.0 exonic rs1055919 PLIN3 AU synonymous SNV NM_001164189 exon5 c.G525A p.S175S 0.48143 0.4821 0.426957 0.4706 0.4955 Uncertain 19_4852337_A->C 19 4852337 4852337 A C snp 3089.77 1/1 99 105 0 105 1.0 intronic rs2271057 PLIN3 AU NM_001164189 exon4 c.13110+24A>C 0.282947 0.4712 0.207366 0.2567 0.4883 Uncertain 19_4909629_C->G 19 4909629 4909629 C G snp 1121.77 0/1 99 100 54 46 0.46 UTR5 rs8103849 UHRF1 AU 0.350639 0.1151 0.4604 0.125 Uncertain 19_4910889_G->T 19 4910889 4910889 G T snp 1983.77 0/1 99 184 95 89 0.48 exonic rs2261988 UHRF1 AU unknown 0.319888 0.1161 0.378041 0.3318 0.1039 0.19 T 1.000 P -0.914 T Uncertain 19_4910924_C->T 19 4910924 4910924 C T snp 2060.77 0/1 99 178 88 90 0.51 exonic rs2261986 UHRF1 AU unknown 0.31849 0.1161 0.379677 0.3311 0.1038 Uncertain 19_4941456_C->T 19 4941456 4941456 C T snp 2619.77 1/1 99 74 0 74 1.0 intronic rs2251519 UHRF1 AU NM_013282 exon5 c.30681-83C>T 0.288139 0.5714 Uncertain 19_4944555_G->A 19 4944555 4944555 G A snp 6524.77 1/1 99 230 0 230 1.0 intronic rs2602730 UHRF1 AU NM_013282 exon8 c.33604+93G>A 0.859824 0.997 Uncertain 19_4944596_T->C 19 4944596 4944596 T C snp 4158.77 1/1 99 139 0 139 1.0 intronic rs2251117 UHRF1 AU NM_013282 exon8 c.33604+134T>C 0.303115 0.5764 Uncertain 19_4945914_A->C 19 4945914 4945914 A C snp 101.28 1/1 9 4 0 4 1.0 exonic rs2250982 UHRF1 AU unknown 0.660543 0.6806 0.530504 0.5734 0.6297 Uncertain 19_4945917_C->T 19 4945917 4945917 C T snp 99.28 1/1 9 4 0 4 1.0 exonic rs2250981 UHRF1 AU unknown 0.545727 0.6687 0.312642 0.3955 0.6190 Uncertain 19_4945974_T->C 19 4945974 4945974 T C snp 333.78 1/1 27 10 0 10 1.0 exonic rs2250978 UHRF1 AU unknown 0.956669 0.999 0.948262 0.9536 0.9997 Uncertain 19_4954454_C->T 19 4954454 4954454 C T snp 2101.77 1/1 99 79 0 79 1.0 exonic rs2247238 UHRF1 AU unknown 0.28734 0.6736 0.173759 0.2707 0.6996 Uncertain 19_4954679_-->C 19 4954679 4954679 - C indel 3797.73 1/1 99 91 0 91 1.0 exonic rs397767650 UHRF1 AU unknown 0.999461 0.9988 0.9999 ID=COSM1394330;OCCURENCE=12(large_intestine) Uncertain 19_5041178_T->C 19 5041178 5041178 T C snp 5000.77 1/1 99 188 0 188 1.0 exonic rs2240678 KDM4B AU synonymous SNV NM_015015 exon5 c.T348C p.D116D 0.880192 0.7569 0.926495 0.8791 0.7348 Uncertain 19_5041316_T->G 19 5041316 5041316 T G snp 2326.77 1/1 99 76 0 76 1.0 intronic rs2240679 KDM4B AU NM_015015 exon5 c.8361+54T>G 0.300919 0.6577 Uncertain 19_5070809_C->T 19 5070809 5070809 C T snp 1023.77 1/1 75 31 0 31 1.0 intronic rs730291 KDM4B AU NM_015015 exon7 c.38119-211C>T 0.303315 0.6528 Uncertain 19_5110794_A->G 19 5110794 5110794 A G snp 1671.77 1/1 99 58 0 58 1.0 exonic rs2613739 KDM4B AU synonymous SNV NM_015015 exon10 c.A1080G p.A360A 0.634585 0.6677 0.582269 0.6063 0.6579 Uncertain 19_5111994_A->G 19 5111994 5111994 A G snp 1343.77 1/1 99 45 0 45 1.0 intronic rs2613736 KDM4B AU NM_015015 exon10 c.77928+1165A>G 0.979034 1 Uncertain 19_5114116_T->G 19 5114116 5114116 T G snp 6895.77 1/1 99 250 0 250 1.0 intronic rs1017820 KDM4B AU NM_015015 exon10 c.77928+3287T>G 0.275359 0.63 0.2696 0.5859 Uncertain 19_5119544_C->T 19 5119544 5119544 C T snp 1145.77 1/1 84 30 0 30 1.0 intronic rs2256523 KDM4B AU NM_015015 exon11 c.86762-119C>T 0.340855 0.6399 Uncertain 19_5132051_G->A 19 5132051 5132051 G A snp 1058.77 1/1 78 34 0 34 1.0 intronic rs2620839 KDM4B AU NM_015015 exon13 c.99117+33G>A 1 1 1.0000 1 Uncertain 19_5134096_C->T 19 5134096 5134096 C T snp 509.77 0/1 99 26 10 16 0.62 intronic rs2251561 KDM4B AU NM_015015 exon14 c.101171+24C>T 0.320288 0.4742 0.251809 0.2730 0.4456 Uncertain 19_5135392_A->G 19 5135392 5135392 A G snp 4761.77 1/1 99 182 0 182 1.0 exonic rs2620836 KDM4B AU nonsynonymous SNV NM_015015 exon15 c.A2128G p.K710E 1 1 1.0000 1 1 T 0.0 P -0.987 T 0.0 T 0.0 T Pathogenic 19_5137192_C->T 19 5137192 5137192 C T snp 1597.77 1/1 99 61 0 61 1.0 intronic rs2613790 KDM4B AU NM_015015 exon16 c.104371-80C>T 0.580671 0.6657 Uncertain 19_5137199_-->C 19 5137199 5137199 - C indel 784.73 0/1 99 63 33 30 0.48 intronic rs113545259 KDM4B AU NM_015015 exon16 c.104371-73insC 0.0892572 0.1627 Uncertain 19_5137846_G->A 19 5137846 5137846 G A snp 753.77 1/1 57 20 0 20 1.0 intronic rs2613786 KDM4B AU NM_015015 exon18 c.105071-126G>A 0.590655 0.6667 Uncertain 19_5138229_T->C 19 5138229 5138229 T C snp 94.28 1/1 9 3 0 3 1.0 intronic rs2251127 KDM4B AU NM_015015 exon18 c.105180+148T>C 0.621406 0.6667 Uncertain 19_5144486_T->C 19 5144486 5144486 T C snp 93.28 1/1 9 3 0 3 1.0 intronic rs2446962 KDM4B AU NM_015015 exon20 c.111522+63T>C 0.350639 0.3562 Uncertain 19_5174025_A->G 19 5174025 5174025 A G snp 657.77 0/1 99 56 29 27 0.48 intergenic rs12975415 KDM4B AU 0.225839 0.1776 0.3606 0.2561 Uncertain 19_5174030_A->G 19 5174030 5174030 A G snp 1824.77 1/1 99 61 0 61 1.0 intergenic rs2620822 KDM4B AU 0.672324 0.6786 0.6483 0.6983 0.17 T 0.0 P -0.984 T Uncertain 19_5174180_C->T 19 5174180 5174180 C T snp 2070.77 1/1 99 68 0 68 1.0 intergenic rs2620821 KDM4B AU 0.68111 0.6706 Uncertain 19_5206775_A->G 19 5206775 5206775 A G snp 1522.77 0/1 99 136 67 69 0.51 UTR3 rs1143700 PTPRS AU 0.832668 0.6657 0.863448 0.8125 0.6748 Uncertain 19_5211568_G->A 19 5211568 5211568 G A snp 486.77 0/1 99 47 28 19 0.4 intronic rs55858361 PTPRS AU NM_002850 exon6 c.4816-32G>A 0.340455 0.5694 0.343380 0.4203 0.5726 Uncertain 19_5214533_A->G 19 5214533 5214533 A G snp 3148.77 0/1 99 250 120 130 0.52 intronic rs9304921 PTPRS AU NM_002850 exon10 c.7787-38A>G 0.795727 0.6726 0.797247 0.7337 0.6761 Uncertain 19_5214697_A->G 19 5214697 5214697 A G snp 5814.77 1/1 99 208 2 206 0.99 exonic rs4807697 PTPRS AU nonsynonymous SNV NM_002850 exon29 c.T4369C p.C1457R 0.999002 1 0.998770 0.9992 1 0.4 T 0.367 P -0.973 T 0.001 T 0.001 T Pathogenic 19_5216574_C->A 19 5216574 5216574 C A snp 79.77 0/1 99 9 5 4 0.44 intronic rs117078276 PTPRS AU NM_002850 exon13 c.9946-156C>A 0.0197684 0.0952 Uncertain 19_5220900_T->C 19 5220900 5220900 T C snp 148.77 0/1 99 18 9 9 0.5 intronic rs10412973 PTPRS AU NM_002850 exon19 c.14226-110T>C 0.835863 0.7192 Uncertain 19_5222071_G->C 19 5222071 5222071 G C snp 703.77 0/1 99 81 53 28 0.35 intronic rs3746132 PTPRS AU NM_002850 exon20 c.15349-62G>C 0.823283 0.7143 Uncertain 19_5222365_C->G 19 5222365 5222365 C G snp 292.77 0/1 99 19 10 9 0.47 intronic PTPRS AU NM_002850 exon20 c.15447+134C>G Uncertain 19_5225558_G->C 19 5225558 5225558 G C snp 193.77 0/1 99 18 11 7 0.39 intronic rs186870819 PTPRS AU NM_002850 exon22 c.18953-179G>C 0.0319489 0.1151 Uncertain 19_5239175_-->GA 19 5239175 5239175 - GA indel 185.73 0/1 48 16 3 13 0.81 intronic rs369714869 PTPRS AU NM_002850 exon26 c.32290+101insGA 0.550919 0.619 Uncertain 19_5240392_C->T 19 5240392 5240392 C T snp 1309.77 1/1 93 53 0 53 1.0 intronic rs3746130 PTPRS AU NM_002850 exon27 c.33559+49C>T 0.209265 0.6518 0.073871 0.1837 0.6611 Uncertain 19_5260878_T->C 19 5260878 5260878 T C snp 1328.77 0/1 99 113 48 65 0.58 intronic rs36016542 PTPRS AU NM_002850 exon32 c.54049+45T>C 0.678115 0.7897 0.6567 0.7558 Uncertain 19_5260880_T->- 19 5260880 5260880 T - indel 2376.73 0/1 99 112 45 67 0.6 intronic rs10708972 PTPRS AU NM_002850 exon32 c.54049+47delT 0.627596 0.7877 0.624825 0.6449 0.7567 Uncertain 19_5260933_A->T 19 5260933 5260933 A T snp 1070.77 0/1 99 87 38 49 0.56 intronic rs7246162 PTPRS AU NM_002850 exon32 c.54049+100A>T 0.605831 0.8254 Uncertain 19_5263061_G->T 19 5263061 5263061 G T snp 179.77 0/1 99 13 6 7 0.54 intronic rs55840918 PTPRS AU NM_002850 exon33 c.56199+78G>T 0.620407 0.8274 0.593736 Uncertain 19_5264967_A->G 19 5264967 5264967 A G snp 619.77 0/1 99 57 34 23 0.4 intronic rs4807017 PTPRS AU NM_002850 exon34 c.58234-51A>G 0.677716 0.8343 0.654691 Uncertain 19_5265222_G->A 19 5265222 5265222 G A snp 763.77 0/1 99 52 26 26 0.5 intronic rs4807703 PTPRS AU NM_002850 exon34 c.58423+15G>A 0.458666 0.7937 0.387590 0.4630 0.7629 Uncertain 19_5274384_C->T 19 5274384 5274384 C T snp 686.77 0/1 99 75 43 32 0.43 intronic rs1034917 PTPRS AU NM_002850 exon36 c.67571+29C>T 0.161542 0.1349 0.139929 0.1552 0.1053 Uncertain 19_5455422_T->C 19 5455422 5455422 T C snp 521.77 1/1 39 16 0 16 1.0 upstream rs4375786 ZNRF4 AU 0.717452 0.8621 Uncertain 19_5455611_C->T 19 5455611 5455611 C T snp 1684.77 0/1 99 159 87 72 0.45 exonic rs2240743 ZNRF4 AU nonsynonymous SNV NM_181710 exon1 c.C109T p.P37S 0.534744 0.756 0.449728 0.5380 0.7597 0.19 T 0.0 P -1.067 T 0.009 T 0.007 T Pathogenic 19_5455796_A->G 19 5455796 5455796 A G snp 5727.77 1/1 99 197 0 197 1.0 exonic rs420325 ZNRF4 AU synonymous SNV NM_181710 exon1 c.A294G p.A98A 0.732029 0.8621 0.642216 0.6234 0.8585 Uncertain 19_5455971_G->T 19 5455971 5455971 G T snp 2044.77 0/1 99 181 92 89 0.49 exonic rs8103406 ZNRF4 AU nonsynonymous SNV NM_181710 exon1 c.G469T p.A157S 0.541733 0.753 0.453880 0.5297 0.7537 0.43 T 0.0 P -1.097 T 0.507 P 0.328 P Pathogenic 19_5455978_T->C 19 5455978 5455978 T C snp 2203.77 0/1 99 185 92 93 0.5 exonic rs8107825 ZNRF4 AU nonsynonymous SNV NM_181710 exon1 c.T476C p.V159A 0.544329 0.752 0.446541 0.5305 0.7536 1 T 0.0 P -0.963 T 0.003 T 0.011 T Pathogenic 19_5455990_G->A 19 5455990 5455990 G A snp 2610.77 0/1 99 205 97 108 0.53 exonic rs17304380 ZNRF4 AU nonsynonymous SNV NM_181710 exon1 c.G488A p.R163H 0.186701 0.3671 0.127718 0.1944 0.4062 0.03 T 0.0 P -1.008 T 1.0 D 0.984 D Pathogenic 19_5456450_T->C 19 5456450 5456450 T C snp 8437.77 1/1 99 250 0 250 1.0 exonic rs8111108 ZNRF4 AU synonymous SNV NM_181710 exon1 c.T948C p.Y316Y 0.704673 0.8581 0.617832 0.6184 0.8602 Uncertain 19_5456930_A->C 19 5456930 5456930 A C snp 116.77 0/1 99 11 6 5 0.45 downstream rs2240747 ZNRF4 AU 0.207468 0.3601 Uncertain 19_5595354_T->C 19 5595354 5595354 T C snp 190.9 1/1 15 10 0 10 1.0 intronic rs10413286 SAFB2 AU NM_014649 exon8 c.8118-17T>C 0.809305 0.8879 0.721898 0.7299 0.8851 Uncertain 19_5653972_G->A 19 5653972 5653972 G A snp 141.03 1/1 12 6 0 6 1.0 intronic rs11085146 SAFB AU NM_001201340 exon11 c.30855-99G>A 0.197883 0.5317 Uncertain 19_5707204_T->C 19 5707204 5707204 T C snp 2498.77 1/1 99 91 0 91 1.0 intronic rs945828 LONP1 AR NM_004793 exon12 c.15112+50T>C 0.782149 0.8333 0.777855 0.8015 0.8367 Uncertain 19_5713291_T->C 19 5713291 5713291 T C snp 2490.77 0/1 99 228 124 104 0.46 intronic rs778293034 LONP1 AR NM_004793 exon16 c.21222+27T>C 8.239e-06 0.0001 Uncertain 19_5746121_-->A 19 5746121 5746121 - A indel 1106.73 1/1 81 27 0 27 1.0 intronic rs77656808 CATSPERD AU NM_152784 exon9 c.25326+47insA 0.361022 0.6657 0.275510 0.3540 0.6943 Uncertain 19_5748440_G->A 19 5748440 5748440 G A snp 96.28 1/1 9 3 0 3 1.0 intronic rs72983135 CATSPERD AU NM_152784 exon10 c.27518+174G>A 0.36262 0.6637 Uncertain 19_5749070_C->T 19 5749070 5749070 C T snp 6010.77 1/1 99 235 1 234 1.0 intronic rs58136456 CATSPERD AU NM_152784 exon11 c.28363-41C>T 0.364217 0.6647 0.278384 0.3603 0.6983 Uncertain 19_5759231_T->G 19 5759231 5759231 T G snp 1359.77 1/1 99 42 0 42 1.0 intronic rs11879365 CATSPERD AU NM_152784 exon15 c.38407+76T>G 0.802117 0.6558 Uncertain 19_5766090_T->C 19 5766090 5766090 T C snp 1700.77 1/1 99 67 1 66 0.99 intronic rs2446200 CATSPERD AU NM_152784 exon17 c.45365-23T>C 0.755192 0.6597 0.816836 0.8172 0.6402 Uncertain 19_5772950_G->A 19 5772950 5772950 G A snp 3585.77 1/1 99 126 1 125 0.99 exonic rs61180947 CATSPERD AU nonsynonymous SNV NM_152784 exon20 c.G1915A p.G639R 0.229633 0.3839 0.165031 0.2569 0.3906 0.14 T 0.0 P -0.973 T 0.999 D 0.764 D Pathogenic 19_5783634_T->C 19 5783634 5783634 T C snp 590.77 0/1 99 54 31 23 0.43 exonic rs2446210 PRR22 AU synonymous SNV NM_001134316 exon3 c.A624G p.P208P 0.451078 0.5496 0.349044 0.3289 0.5562 Uncertain 19_5783700_T->G 19 5783700 5783700 T G snp 76.77 0/1 99 54 40 14 0.26 exonic rs753231853 PRR22 AU synonymous SNV NM_001134316 exon3 c.A558C p.P186P 0.0161 0.0040 Uncertain 19_5783712_C->T 19 5783712 5783712 C T snp 686.77 0/1 99 59 26 33 0.56 exonic rs2446211 PRR22 AU synonymous SNV NM_001134316 exon3 c.G546A p.P182P 0.336861 0.5456 0.179958 0.3139 0.5928 Uncertain 19_5783905_G->A 19 5783905 5783905 G A snp 1000.77 0/1 99 90 50 40 0.44 exonic rs3745640 PRR22 AU nonsynonymous SNV NM_001134316 exon3 c.C353T p.P118L 0.307508 0.5437 0.173210 0.3324 0.5798 0.01 T 0.916 P -0.900 T 0.98 D 0.68 D Pathogenic 19_5784314_G->A 19 5784314 5784314 G A snp 1857.77 0/1 99 169 93 76 0.45 intronic rs10410693 PRR22 AU NM_001134316 exon2 c.1399-73G>A 0.153554 0.2163 Uncertain 19_5784370_C->T 19 5784370 5784370 C T snp 1847.77 0/1 99 182 103 79 0.43 intronic rs2446212 PRR22 AU NM_001134316 exon2 c.1399-17C>T 0.446685 0.5486 0.343189 0.3013 0.5392 Uncertain 19_5785113_C->T 19 5785113 5785113 C T snp 612.77 0/1 99 32 7 25 0.78 upstream;downstream rs3826798 PRR22;DUS3L UN 0.311502 0.5427 Uncertain 19_5786718_A->G 19 5786718 5786718 A G snp 699.77 0/1 99 62 32 30 0.48 intronic rs2305927 DUS3L AU NM_020175 exon5 c.1546-41A>G 0.311701 0.5437 0.199507 0.2397 0.5286 Uncertain 19_5786815_G->A 19 5786815 5786815 G A snp 888.77 0/1 99 74 34 40 0.54 exonic rs10811 DUS3L AU synonymous SNV NM_001161619 exon8 c.C705T p.A235A 0.312899 0.5437 0.206915 0.2454 0.5353 Uncertain 19_5786901_C->T 19 5786901 5786901 C T snp 541.77 0/1 99 49 27 22 0.45 intronic rs1128792 DUS3L AU NM_020175 exon5 c.1643+45C>T 0.138578 0.2272 0.108131 0.1815 0.2226 Uncertain 19_5787214_T->C 19 5787214 5787214 T C snp 510.77 0/1 99 78 49 29 0.37 intronic rs28420751 DUS3L AU NM_020175 exon6 c.1969+32T>C 0.0410 0.0455 Uncertain 19_5787215_G->A 19 5787215 5787215 G A snp 503.77 0/1 99 79 54 25 0.32 intronic rs28427521 DUS3L AU NM_020175 exon6 c.1969+33G>A Uncertain 19_5787225_G->C 19 5787225 5787225 G C snp 759.77 0/1 99 87 49 38 0.44 intronic rs10406477 DUS3L AU NM_020175 exon6 c.1969+43G>C 0.3169 0.2852 Uncertain 19_5787234_C->T 19 5787234 5787234 C T snp 634.77 0/1 99 90 56 34 0.38 intronic rs10408042 DUS3L AU NM_020175 exon6 c.1969+52C>T 0.3664 0.3179 Uncertain 19_5787245_G->A 19 5787245 5787245 G A snp 253.77 0/1 99 88 58 30 0.34 intronic rs11670495 DUS3L AU NM_020175 exon7 c.2093-61G>A Uncertain 19_5789565_T->C 19 5789565 5789565 T C snp 984.77 0/1 99 103 65 38 0.37 exonic rs2436487 DUS3L AU nonsynonymous SNV NM_020175 exon3 c.A553G p.R185G 0.460064 0.5496 0.342734 0.3194 0.5398 0.61 T 0.000 P -1.038 T 0.0 T 0.0 T Pathogenic 19_5791167_T->C 19 5791167 5791167 T C snp 535.77 0/1 99 54 29 25 0.46 UTR5 rs2290776 DUS3L AU 0.454073 0.5466 0.358550 0.3777 0.5856 Uncertain 19_5827620_C->T 19 5827620 5827620 C T snp 749.77 1/1 57 23 0 23 1.0 intronic rs8106995 NRTN AU NM_004558 exon2 c.3583-139C>T 0.671925 0.873 Uncertain 19_5827765_G->A 19 5827765 5827765 G A snp 1649.77 0/1 99 150 78 72 0.48 exonic rs79744308 NRTN AU nonsynonymous SNV NM_004558 exon2 c.G175A p.A59T 0.0854633 0.129 0.037709 0.1078 0.1559 0.62 T 1 N -1.114 T 0.442 T 0.076 T Pathogenic 19_5828064_G->C 19 5828064 5828064 G C snp 1059.77 0/1 99 83 36 47 0.57 exonic rs7255720 NRTN AU synonymous SNV NM_004558 exon2 c.G474C p.R158R 0.0980 0.0732 Uncertain 19_5831577_G->C 19 5831577 5831577 G C snp 830.77 0/1 99 73 37 36 0.49 exonic rs61740561 FUT6 AU synonymous SNV NM_000150 exon3 c.C1002G p.L334L 0.0738818 0.0327 0.078656 0.0504 0.0361 Uncertain 19_5831602_C->T 19 5831602 5831602 C T snp 525.77 0/1 99 58 31 27 0.47 exonic rs61739552 FUT6 AU nonsynonymous SNV NM_000150 exon3 c.G977A p.R326Q 0.0339457 0.0327 0.036368 0.0391 0.0357 0.33 T 1 N -0.998 T 0.053 T 0.025 T Pathogenic 19_5831634_G->T 19 5831634 5831634 G T snp 530.77 0/1 99 34 15 19 0.56 exonic rs145035679 FUT6 AU stopgain NM_000150 exon3 c.C945A p.Y315X 0.0289537 0.0774 0.005616 0.0177 0.0690 1 T 1 D ID=CM940796;DIS=Fucosyltransferase deficiency;TAG=DM;PUB=8175676 DM Pathogenic 19_5831724_T->C 19 5831724 5831724 T C snp 676.77 1/1 54 26 0 26 1.0 exonic rs112313064 FUT6 AU synonymous SNV NM_000150 exon3 c.A855G p.P285P 0.589657 0.6468 0.4840 0.6304 Uncertain 19_5831840_C->T 19 5831840 5831840 C T snp 1464.77 0/1 99 130 65 65 0.5 exonic rs17855739 FUT6 AU nonsynonymous SNV NM_000150 exon3 c.G739A p.E247K 0.160743 0.1319 0.127826 0.0833 0.1004 0.01 T 0.948 P -1.117 T 0.951 T 0.832 D CLINSIG=pathogenic;CLNDBN=Fucosyltransferase_6_deficiency;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000017626.26;CLNDSDB=MedGen:OMIM;CLNDSDBID=C3151219:613852 ID=CM940795;DIS=Fucosyltransferase deficiency;TAG=DM;PUB=8175676 DM Pathogenic 19_5831841_G->A 19 5831841 5831841 G A snp 1365.77 0/1 99 132 72 60 0.45 exonic rs141349215 FUT6 AU synonymous SNV NM_000150 exon3 c.C738T p.F246F 0.0233626 0.0327 0.026996 0.0360 0.0357 Uncertain 19_5832209_G->A 19 5832209 5832209 G A snp 2469.77 0/1 99 250 136 114 0.46 exonic rs778805 FUT6 AU nonsynonymous SNV NM_000150 exon3 c.C370T p.P124S 0.495208 0.6121 0.419883 0.4109 0.5948 0.15 T 0.0 P -0.991 T 0.035 T 0.102 T ID=CM940794;DIS=Fucosyltransferase deficiency;TAG=DM;PUB=8175676 DM Pathogenic 19_5832589_A->C 19 5832589 5832589 A C snp 2743.77 0/1 99 222 107 115 0.52 UTR5 rs9807877 FUT6 AU 0.322883 0.2927 0.370960 0.3811 0.3027 Uncertain 19_5832692_A->T 19 5832692 5832692 A T snp 935.77 1/1 72 26 0 26 1.0 intronic rs778804 FUT6 AU NM_000150 exon1 c.1092+102A>T 0.823682 0.9067 Uncertain 19_5843609_T->C 19 5843609 5843609 T C snp 101.28 1/1 9 4 0 4 1.0 UTR3 rs874232 FUT3 AU 0.526757 0.7083 Uncertain 19_5843784_A->T 19 5843784 5843784 A T snp 551.77 0/1 99 52 25 27 0.52 exonic rs3894326 FUT3 AU nonsynonymous SNV NM_000149 exon3 c.T1067A p.I356K 0.096246 0.1478 0.059203 0.0865 0.1293 0.01 T 0.993 D -1.036 T 0.981 D 0.938 D ID=CM940793;DIS=Lewis antigen, absence;TAG=FP;PUB=8063716 FP Pathogenic 19_5844537_A->G 19 5844537 5844537 A G snp 6830.77 1/1 99 246 0 246 1.0 exonic rs778986 FUT3 AU nonsynonymous SNV NM_000149 exon3 c.T314C p.M105T 0.888379 0.9692 0.838844 0.8368 0.9735 0.02 T 0.0 P -1.087 T 0.0 T 0.0 T ID=CM930259;DIS=Lewis antigen, absence;TAG=FP;PUB=8240322 FP Pathogenic 19_5844649_G->A 19 5844649 5844649 G A snp 3888.77 1/1 99 107 0 107 1.0 exonic rs812936 FUT3 AU nonsynonymous SNV NM_000149 exon3 c.C202T p.R68W 0.881589 0.9692 0.829617 0.8277 0.9733 1 T 0.000 P -0.958 T 0.0 T 0.0 T ID=CM970545;DIS=Lewis antigen, absence;TAG=FP;PUB=9268337 FP Pathogenic 19_5844792_A->C 19 5844792 5844792 A C snp 2401.77 0/1 99 220 111 109 0.5 exonic rs28362459 FUT3 AU nonsynonymous SNV NM_000149 exon3 c.T59G p.L20R 0.252796 0.2956 0.160695 0.1752 0.3058 0.29 T 0.573 P -1.023 T 0.997 D 0.968 D CLINSIG=other;CLNDBN=Le(-)_PHENOTYPE;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000019289.23;CLNDSDB=.;CLNDSDBID=. ID=CM930258;DIS=Lewis antigen, absence;TAG=FP;PUB=8219240 FP Pathogenic 19_5866585_C->T 19 5866585 5866585 C T snp 1143.77 1/1 81 44 0 44 1.0 UTR3 rs778982 FUT5 AU 0.838259 0.8938 0.793986 0.8066 0.8905 Uncertain 19_5866654_A->G 19 5866654 5866654 A G snp 1085.77 1/1 78 48 0 48 1.0 exonic rs778983 FUT5 AU synonymous SNV NM_002034 exon2 c.T1083C p.S361S 0.84345 0.8948 0.806799 0.8018 0.8900 Uncertain 19_5866724_G->A 19 5866724 5866724 G A snp 33.77 0/1 62 26 17 9 0.35 exonic rs4807054 FUT5 AU nonsynonymous SNV NM_002034 exon2 c.C1013T p.T338M 0.40016 0.5516 0.326308 0.4085 0.5367 0.08 T 0.000 P -0.915 T 0.64 T 0.219 P Pathogenic 19_5866736_T->C 19 5866736 5866736 T C snp 261.8 1/1 21 22 0 22 1.0 exonic rs778984 FUT5 AU nonsynonymous SNV NM_002034 exon2 c.A1001G p.H334R 0.7708 0.8676 1 T 0.0 P -0.977 T Pathogenic 19_5866816_G->A 19 5866816 5866816 G A snp 113.03 1/1 12 21 8 13 0.62 exonic rs28541500 FUT5 AU synonymous SNV NM_002034 exon2 c.C921T p.D307D 0.817492 0.8413 0.7188 0.7723 Uncertain 19_5866840_T->C 19 5866840 5866840 T C snp 599.77 1/1 51 36 0 36 1.0 exonic rs13346240 FUT5 AU synonymous SNV NM_002034 exon2 c.A897G p.P299P 0.76877 0.8819 0.6191 0.8217 Uncertain 19_5867177_G->A 19 5867177 5867177 G A snp 1341.77 0/1 99 97 40 57 0.59 exonic rs778970 FUT5 AU nonsynonymous SNV NM_002034 exon2 c.C560T p.P187L 0.446885 0.5863 0.4637 0.5767 0.39 T 0.000 P -0.941 T 0.881 T 0.493 P Pathogenic 19_5867748_G->T 19 5867748 5867748 G T snp 5993.77 1/1 99 227 1 226 1.0 UTR5 rs778971 FUT5 AU 0.638778 0.8065 0.534714 0.6098 0.7800 Uncertain 19_5892317_C->T 19 5892317 5892317 C T snp 311.78 1/1 24 9 0 9 1.0 intergenic rs1626918 FUT5 AU 0.640974 0.744 Uncertain 19_5892382_C->T 19 5892382 5892382 C T snp 770.77 1/1 57 26 0 26 1.0 intergenic rs1678867 FUT5 AU 0.727236 0.756 Uncertain 19_5892433_C->T 19 5892433 5892433 C T snp 1787.77 1/1 99 59 0 59 1.0 intergenic rs1627779 FUT5 AU 0.474241 0.7302 Uncertain 19_5892486_C->T 19 5892486 5892486 C T snp 2584.77 1/1 99 91 0 91 1.0 intergenic rs1628564 FUT5 AU 0.583866 0.7421 Uncertain 19_5892568_G->T 19 5892568 5892568 G T snp 3370.77 1/1 99 125 1 124 0.99 intergenic rs1629368 FUT5 AU 0.575879 0.7421 Uncertain 19_5892743_C->T 19 5892743 5892743 C T snp 2495.77 1/1 99 86 0 86 1.0 intergenic rs10432306 FUT5 AU 0.41274 0.7312 Uncertain 19_5892770_C->T 19 5892770 5892770 C T snp 2814.77 1/1 99 93 1 92 0.99 intergenic rs1631032 FUT5 AU 0.585863 0.7421 Uncertain 19_5892954_T->C 19 5892954 5892954 T C snp 3092.77 1/1 99 103 0 103 1.0 intergenic rs1678868 FUT5 AU 0.477037 0.7312 0.5216 0.7736 0 D 0.000 P -1.007 T 0.0 T 0.0 T Uncertain 19_5903807_G->T 19 5903807 5903807 G T snp 3954.77 1/1 99 151 0 151 1.0 UTR5 rs8108064 NDUFA11 AR,XD,AO 0.68151 0.7351 0.6750 0.7247 Uncertain 19_5903936_T->C 19 5903936 5903936 T C snp 258.8 1/1 21 7 0 7 1.0 UTR5 rs1056987 NDUFA11 AR,XD,AO 0.726637 0.7371 0.7489 0.7069 Uncertain 19_5905141_G->A 19 5905141 5905141 G A snp 1022.77 1/1 72 42 0 42 1.0 intronic rs10406399 VMAC AU NM_001017921 exon1 c.191+49G>A 0.680911 0.7361 0.719027 0.7323 0.7222 Uncertain 19_5925594_C->T 19 5925594 5925594 C T snp 271.77 0/1 99 34 18 16 0.47 intronic rs778847987 RANBP3 AU NM_007320 exon8 c.8024-50C>T 5.978e-05 0.0007 Uncertain 19_5928185_T->C 19 5928185 5928185 T C snp 817.77 1/1 60 28 0 28 1.0 intronic rs274793 RANBP3 AU NM_007320 exon9 c.10478+87T>C 0.714657 0.7778 Uncertain 19_5962530_C->T 19 5962530 5962530 C T snp 307.78 1/1 24 8 0 8 1.0 intronic rs639251 RANBP3 AU NM_007320 exon15 c.40364+4546C>T 0.742612 0.7688 Uncertain 19_6004105_G->A 19 6004105 6004105 G A snp 260.8 1/1 21 7 0 7 1.0 ncRNA_intronic rs530942 LOC100128568 AU 0.830871 0.754 Uncertain 19_6042059_C->T 19 6042059 6042059 C T snp 1691.77 0/1 99 152 75 77 0.51 exonic rs2288846 RFX2 AU nonsynonymous SNV NM_134433 exon4 c.G256A p.A86T 0.225639 0.2183 0.225358 0.2540 0.2594 0.45 T 0.972 P -0.972 T 0.003 T 0.02 T Pathogenic 19_6141471_C->A 19 6141471 6141471 C A snp 457.77 0/1 99 41 19 22 0.54 intronic rs10853992 ACSBG2 AU 0.607228 0.6885 Uncertain 19_6141758_G->T 19 6141758 6141758 G T snp 207.77 0/1 99 26 16 10 0.38 intronic rs9304926 ACSBG2 AU NM_030924 exon2 c.67+137G>T 0.626597 0.6954 Uncertain 19_6141809_G->A 19 6141809 6141809 G A snp 76.77 0/1 99 11 6 5 0.45 intronic rs9304927 ACSBG2 AU NM_030924 exon2 c.67+188G>A 0.570088 0.6776 Uncertain 19_6147743_G->C 19 6147743 6147743 G C snp 875.77 0/1 99 70 39 31 0.44 intronic rs9304929 ACSBG2 AU NM_030924 exon3 c.6132+57G>C 0.732228 0.7163 Uncertain 19_6151549_T->C 19 6151549 6151549 T C snp 254.77 0/1 99 21 11 10 0.48 intronic rs10422296 ACSBG2 AU NM_030924 exon4 c.10163-168T>C 0.666534 0.6944 Uncertain 19_6151703_C->T 19 6151703 6151703 C T snp 613.77 0/1 99 73 45 28 0.38 intronic rs7252466 ACSBG2 AU NM_030924 exon4 c.10163-14C>T 0.600639 0.6825 0.595139 0.6986 0.7016 Uncertain 19_6156483_T->C 19 6156483 6156483 T C snp 1996.77 0/1 99 228 136 92 0.4 exonic rs4807840 ACSBG2 AU nonsynonymous SNV NM_001289177 exon5 c.T428C p.V143A 0.712061 0.7153 0.700062 0.7088 0.6933 1 T 0.001 P -0.928 T 0.0 T 0.0 T Pathogenic 19_6306971_G->A 19 6306971 6306971 G A snp 454.77 0/1 99 30 11 19 0.63 intronic rs4807863 ACER1 AU NM_133492 exon1 c.169+78G>A 0.616613 0.7054 Uncertain 19_6309687_G->A 19 6309687 6309687 G A snp 474.77 0/1 99 41 22 19 0.46 intronic rs28666483 ACER1 AU NM_133492 exon3 c.2983-20G>A 0.105232 0.1022 0.092573 0.0906 0.1244 Uncertain 19_6333290_T->C 19 6333290 6333290 T C snp 1895.77 1/1 99 53 0 53 1.0 intronic rs2335192 ACER1 AU NM_133492 exon6 c.26745-179T>C Uncertain 19_6361845_-->C 19 6361845 6361845 - C indel 7366.73 1/1 99 202 0 202 1.0 intronic rs397829807 CLPP AR NM_006012 exon2 c.294-34insC 1 1 0.997437 0.9999 1 Uncertain 19_6366149_C->T 19 6366149 6366149 C T snp 463.77 0/1 99 41 22 19 0.46 intronic rs2860168 CLPP AR NM_006012 exon5 c.4683-119C>T 0.213059 0.3958 Uncertain 19_6366230_A->G 19 6366230 6366230 A G snp 1699.77 0/1 99 154 84 70 0.45 intronic rs10420388 CLPP AR NM_006012 exon5 c.4683-38A>G 0.4375 0.3968 0.344509 0.3237 0.4617 Uncertain 19_6366481_G->A 19 6366481 6366481 G A snp 411.77 0/1 99 23 8 15 0.65 intronic rs10418574 CLPP AR NM_006012 exon5 c.4789+107G>A 0.438099 0.3958 Uncertain 19_6368386_T->C 19 6368386 6368386 T C snp 143.77 0/1 99 11 6 5 0.45 intronic rs7251613 CLPP AR NM_006012 exon6 c.6963-162T>C 0.433307 0.3968 Uncertain 19_6374813_T->C 19 6374813 6374813 T C snp 869.77 0/1 99 78 41 37 0.47 intronic rs10421175 ALKBH7 AU NM_032306 exon4 c.1990-8T>C 0.440895 0.3929 0.363678 0.2560 0.3879 Uncertain 19_6375831_G->A 19 6375831 6375831 G A snp 1619.77 0/1 99 141 74 67 0.48 exonic rs2304198 PSPN AU synonymous SNV NM_004158 exon1 c.C30T p.S10S 0.440096 0.3889 0.363525 0.2559 0.3859 Uncertain 19_6383537_G->A 19 6383537 6383537 G A snp 1126.77 0/1 99 96 49 47 0.49 intronic rs3745573 GTF2F1 AU NM_002096 exon8 c.3215+31G>A 0.223442 0.3889 0.095187 0.1278 0.3840 Uncertain 19_6391847_C->T 19 6391847 6391847 C T snp 803.77 0/1 99 124 81 43 0.35 intronic rs6510895 GTF2F1 AU NM_002096 exon11 c.11621-65C>T 0.447684 0.3929 Uncertain 19_6392006_T->C 19 6392006 6392006 T C snp 486.77 0/1 99 64 41 23 0.36 intronic rs2304196 GTF2F1 AU NM_002096 exon11 c.11694+21T>C 0.260783 0.3919 0.131652 0.2103 0.4430 Uncertain 19_6392078_A->G 19 6392078 6392078 A G snp 552.77 0/1 99 45 27 18 0.4 intronic rs2247785 GTF2F1 AU NM_002096 exon11 c.11694+93A>G 0.426518 0.3929 Uncertain 19_6412120_C->A 19 6412120 6412120 C A snp 154.77 0/1 97 8 3 5 0.63 downstream rs4807085 KHSRP AU 0.298922 0.4276 Uncertain 19_6415443_T->C 19 6415443 6415443 T C snp 6506.77 1/1 99 249 0 249 1.0 exonic rs1616305 KHSRP AU synonymous SNV NM_003685 exon18 c.A1914G p.A638A 0.978235 1 0.974321 0.9806 1 Uncertain 19_6415795_T->C 19 6415795 6415795 T C snp 1168.77 0/1 99 111 56 55 0.5 intronic rs8103311 KHSRP AU NM_003685 exon5 c.1696-23T>C 0.467851 0.4613 0.391807 0.4662 0.5700 Uncertain 19_6416123_A->G 19 6416123 6416123 A G snp 275.78 1/1 24 8 0 8 1.0 intronic rs2305058 KHSRP AU NM_003685 exon6 c.2186-185A>G 0.68111 0.6538 Uncertain 19_6417855_G->A 19 6417855 6417855 G A snp 2165.77 0/1 99 142 61 81 0.57 splicing rs2258496 KHSRP AU NM_003685 exon10 c.3730+3G>A 0.422923 0.4603 0.367832 0.3867 0.4681 Pathogenic 19_6419275_A->G 19 6419275 6419275 A G snp 2090.77 0/1 99 174 84 90 0.52 splicing rs2305059 KHSRP AU NM_003685 exon14 c.5149+4A>G 0.46845 0.4613 0.413742 0.4670 0.555 Pathogenic 19_6430106_C->T 19 6430106 6430106 C T snp 2504.77 0/1 99 208 93 115 0.55 exonic rs34488963 SLC25A41 AU nonsynonymous SNV NM_173637 exon3 c.G430A p.G144S 0.101637 0.1538 0.062790 0.0737 0.1348 0.01 T 1.0 P -0.675 T 1.0 D 0.993 D Pathogenic 19_6436304_T->C 19 6436304 6436304 T C snp 610.9 1/1 15 19 1 18 0.95 intergenic rs2860182 SLC25A41 AU 0.609625 0.6935 0.6025 0.7727 Uncertain 19_6436305_C->T 19 6436305 6436305 C T snp 608.1 1/1 11 19 1 18 0.95 intergenic rs2860181 SLC25A41 AU 0.599042 0.6766 0.6056 0.7727 Uncertain 19_6456019_T->C 19 6456019 6456019 T C snp 587.77 0/1 99 63 37 26 0.41 intronic rs10424879 SLC25A23 AU NM_024103 exon7 c.14445-411T>C 0.189297 0.1786 0.1745 0.1881 0.55 T 0.0 P -1.083 T Uncertain 19_6456021_C->A 19 6456021 6456021 C A snp 515.77 0/1 99 63 37 26 0.41 intronic rs10418566 SLC25A23 AU NM_024103 exon7 c.14445-409C>A 0.188898 0.1776 0.1750 0.1863 0.75 T 0.0 P -1.104 T Uncertain 19_6456062_C->T 19 6456062 6456062 C T snp 1143.77 0/1 99 103 52 51 0.5 intronic rs10418596 SLC25A23 AU NM_024103 exon7 c.14445-368C>T 0.107029 0.1508 0.0842 0.1381 Uncertain 19_6456324_T->C 19 6456324 6456324 T C snp 813.77 0/1 99 62 35 27 0.44 intronic rs10425555 SLC25A23 AU NM_024103 exon7 c.14445-106T>C 0.191693 0.1935 Uncertain 19_6456339_T->C 19 6456339 6456339 T C snp 1009.77 0/1 99 88 50 38 0.43 intronic rs10425567 SLC25A23 AU NM_024103 exon7 c.14445-91T>C 0.203474 0.1935 Uncertain 19_6456603_G->A 19 6456603 6456603 G A snp 1681.77 0/1 99 117 50 67 0.57 intronic rs10418327 SLC25A23 AU NM_024103 exon7 c.14557+61G>A 0.0908546 0.1488 Uncertain 19_6457367_T->C 19 6457367 6457367 T C snp 325.77 0/1 99 23 12 11 0.48 intronic rs348370 SLC25A23 AU NM_024103 exon8 c.15528-146T>C 0.45028 0.1964 Uncertain 19_6464936_G->T 19 6464936 6464936 G T snp 601.77 0/1 99 60 34 26 0.43 intronic rs348359 CRB3 AU NM_174881 exon2 c.82+142G>T 0.195687 0.1389 Uncertain 19_6466482_A->G 19 6466482 6466482 A G snp 1670.77 0/1 99 159 92 67 0.42 exonic rs348362 CRB3 AU synonymous SNV NM_139161 exon4 c.A162G p.P54P 0.423323 0.1875 0.558281 0.4545 0.1861 Uncertain 19_6466745_C->T 19 6466745 6466745 C T snp 40.79 0/1 23 3 1 2 0.67 UTR3 rs348363 CRB3 AU 0.135982 0.1399 Uncertain 19_6471203_A->G 19 6471203 6471203 A G snp 631.77 0/1 99 60 32 28 0.47 intronic rs10415980 DENND1C AU NM_001290331 exon7 c.3761-72A>G 0.146965 0.1419 0.090889 Uncertain 19_6477256_G->T 19 6477256 6477256 G T snp 1070.77 0/1 99 77 31 46 0.6 exonic rs348398 DENND1C AU synonymous SNV NM_001290331 exon6 c.C354A p.P118P 0.644569 0.4722 0.731971 0.6459 0.4489 Uncertain 19_6477324_G->C 19 6477324 6477324 G C snp 1132.77 0/1 99 89 43 46 0.52 intronic rs348399 DENND1C AU NM_001290331 exon16 c.9780+30G>C 0.644768 0.4732 0.731028 0.6486 0.4518 Uncertain 19_6478925_C->G 19 6478925 6478925 C G snp 6424.77 1/1 99 247 2 245 0.99 intronic rs3745570 DENND1C AU NM_001290331 exon19 c.11433-22C>G 0.364617 0.4206 0.262735 0.2443 0.4471 Uncertain 19_6535080_T->C 19 6535080 6535080 T C snp 2057.77 1/1 99 72 0 72 1.0 UTR3 rs2234182 TNFSF9 AU 0.645367 0.7619 0.597875 0.6622 0.7702 Uncertain 19_6585921_G->C 19 6585921 6585921 G C snp 102.28 1/1 9 5 0 5 1.0 UTR3 rs453462 CD70 AU 0.9998 0.999 Uncertain 19_6586268_G->A 19 6586268 6586268 G A snp 2198.77 1/1 99 80 0 80 1.0 exonic rs1862511 CD70 AU synonymous SNV NM_001252 exon3 c.C345T p.C115C 0.350639 0.6756 0.263186 0.3201 0.6912 Uncertain 19_6589945_TCTC->- 19 6589945 6589948 TCTC - indel 1038.73 1/1 48 16 0 16 1.0 intronic rs3055535 CD70 AU NM_001252 exon2 c.4083-168_4083-165delTCTC 0.555312 0.749 Uncertain 19_6665020_T->C 19 6665020 6665020 T C snp 7717.77 1/1 99 249 0 249 1.0 exonic rs344560 TNFSF14 AU nonsynonymous SNV NM_003807 exon5 c.A640G p.K214E 0.959665 0.9405 0.958173 0.9484 0.9208 1 T 0.000 P -0.941 T 0.0 T 0.0 T ID=CM105032;DIS=Altered receptor binding;TAG=FP;PUB=20592286 FP Pathogenic 19_6669934_G->A 19 6669934 6669934 G A snp 1363.77 0/1 99 106 46 60 0.57 exonic rs2291668 TNFSF14 AU synonymous SNV NM_003807 exon2 c.C147T p.A49A 0.176318 0.2788 0.142396 0.1806 0.2851 Uncertain 19_6686659_T->C 19 6686659 6686659 T C snp 309.78 1/1 24 8 0 8 1.0 intronic rs237554 C3 AR,AD,AU NM_000064 exon14 c.8864-97T>C 0.897764 0.9871 Uncertain 19_6689342_C->A 19 6689342 6689342 C A snp 902.77 0/1 99 70 29 41 0.59 intronic rs73498313 C3 AR,AD,AU NM_000064 exon15 c.12747-1297C>A Uncertain 19_6689346_C->A 19 6689346 6689346 C A snp 676.77 0/1 99 62 28 34 0.55 intronic rs141412883 C3 AR,AD,AU NM_000064 exon15 c.12747-1293C>A Uncertain 19_6689350_C->A 19 6689350 6689350 C A snp 476.77 0/1 99 51 25 26 0.51 intronic rs142473167 C3 AR,AD,AU NM_000064 exon15 c.12747-1289C>A Uncertain 19_6689371_C->T 19 6689371 6689371 C T snp 204.77 0/1 99 33 24 9 0.27 intronic rs13345176 C3 AR,AD,AU NM_000064 exon15 c.12747-1268C>T Uncertain 19_6690461_G->A 19 6690461 6690461 G A snp 122.77 0/1 66 6 2 4 0.67 intronic rs6417195 C3 AR,AD,AU NM_000064 exon15 c.12747-178G>A 0.39377 0.2956 Uncertain 19_6693163_G->A 19 6693163 6693163 G A snp 679.77 0/1 99 46 20 26 0.57 intronic rs10414623 C3 AR,AD,AU NM_000064 exon16 c.15202+69G>A 0.138978 0.2937 Uncertain 19_6693571_C->T 19 6693571 6693571 C T snp 415.77 0/1 99 48 27 21 0.44 intronic rs11085194 C3 AR,AD,AU NM_000064 exon17 c.15606+73C>T 0.390575 0.2946 Uncertain 19_6696342_A->G 19 6696342 6696342 A G snp 594.77 1/1 45 16 0 16 1.0 intronic rs2287848 C3 AR,AD,AU NM_000064 exon19 c.18497-47A>G 0.780152 0.8512 0.697569 0.6925 0.8483 Uncertain 19_6696496_T->C 19 6696496 6696496 T C snp 5328.77 1/1 99 199 0 199 1.0 intronic rs2287847 C3 AR,AD,AU NM_000064 exon19 c.18584+20T>C 0.815296 0.9127 0.755574 0.7892 0.9121 Uncertain 19_6696557_C->G 19 6696557 6696557 C G snp 5626.77 1/1 99 210 0 210 1.0 intronic rs2287846 C3 AR,AD,AU NM_000064 exon20 c.18711-46C>G 0.756789 0.8512 0.673612 0.6742 0.8377 Uncertain 19_6696597_G->A 19 6696597 6696597 G A snp 4689.77 1/1 99 172 1 171 0.99 intronic rs2287845 C3 AR,AD,AU NM_000064 exon20 c.18711-6G>A 0.732428 0.8512 0.647317 0.6666 0.8381 Uncertain 19_6696691_G->T 19 6696691 6696691 G T snp 2047.77 1/1 99 71 0 71 1.0 intronic rs2355315 C3 AR,AD,AU NM_000064 exon20 c.18778+21G>T 0.732428 0.8512 0.647317 0.6665 0.8377 Uncertain 19_6696699_G->A 19 6696699 6696699 G A snp 1930.77 1/1 99 65 0 65 1.0 intronic rs2253756 C3 AR,AD,AU NM_000064 exon20 c.18778+29G>A 0.732428 0.8512 0.647317 0.6666 0.8375 Uncertain 19_6696789_G->A 19 6696789 6696789 G A snp 514.77 1/1 39 17 0 17 1.0 intronic rs2355316 C3 AR,AD,AU NM_000064 exon20 c.18778+119G>A 0.732428 0.8512 Uncertain 19_6696835_G->A 19 6696835 6696835 G A snp 83.28 1/1 9 3 0 3 1.0 intronic rs408004 C3 AR,AD,AU NM_000064 exon20 c.18778+165G>A 0.732428 0.8512 Uncertain 19_6697215_T->- 19 6697215 6697215 T - indel 556.73 1/1 42 14 0 14 1.0 intronic rs5826946 C3 AR,AD,AU NM_000064 exon21 c.19462-139delT 0.731829 0.8512 Uncertain 19_6697406_A->G 19 6697406 6697406 A G snp 7350.77 1/1 99 250 0 250 1.0 exonic rs423490 C3 AR,AD,AU synonymous SNV NM_000064 exon21 c.T2745C p.A915A 0.814896 0.9127 0.755805 0.7889 0.9118 Uncertain 19_6697829_G->T 19 6697829 6697829 G T snp 854.77 1/1 63 26 0 26 1.0 intronic rs366510 C3 AR,AD,AU NM_000064 exon22 c.19913+24G>T 0.732029 0.8512 0.646932 0.6665 0.8359 Uncertain 19_6702022_G->C 19 6702022 6702022 G C snp 96.28 1/1 9 3 0 3 1.0 intronic rs408290 C3 AR,AD,AU NM_000064 exon23 c.24245-115G>C 0.732428 0.8512 Uncertain 19_6702042_A->G 19 6702042 6702042 A G snp 266.8 1/1 21 10 0 10 1.0 intronic rs433594 C3 AR,AD,AU NM_000064 exon23 c.24245-95A>G 0.732428 0.8512 Uncertain 19_6702157_C->G 19 6702157 6702157 C G snp 1396.77 1/1 99 51 0 51 1.0 exonic rs428453 C3 AR,AD,AU synonymous SNV NM_000064 exon19 c.G2421C p.V807V 0.732428 0.8512 0.647009 0.6664 0.8375 Uncertain 19_6702246_T->C 19 6702246 6702246 T C snp 1235.77 1/1 87 49 0 49 1.0 intronic rs432823 C3 AR,AD,AU NM_000064 exon23 c.24331+23T>C 0.732628 0.8522 0.647009 0.6671 0.8381 Uncertain 19_6702455_G->C 19 6702455 6702455 G C snp 1349.77 0/1 99 127 72 55 0.43 intronic rs11569450 C3 AR,AD,AU NM_000064 exon24 c.24589-26G>C 0.181909 0.4266 0.090266 0.1385 0.4054 Uncertain 19_6702598_G->A 19 6702598 6702598 G A snp 4782.77 1/1 99 180 0 180 1.0 intronic rs406514 C3 AR,AD,AU NM_000064 exon24 c.24698+8G>A 0.814896 0.9127 0.754959 0.7888 0.9119 Uncertain 19_6707197_C->T 19 6707197 6707197 C T snp 1760.77 0/1 99 175 88 87 0.5 exonic rs773113880 C3 AR,AD,AU nonsynonymous SNV NM_000064 exon17 c.G2135A p.R712H 8.498e-06 0.0001 0.12 T 1 N -1.010 T 0.967 D 0.717 D Pathogenic 19_6708107_-->TCTC 19 6708107 6708107 - TCTC indel 1255.73 1/1 60 31 0 31 1.0 intronic rs10659507 C3 AR,AD,AU NM_000064 exon27 c.30048+167insTCTC Uncertain 19_6709704_C->T 19 6709704 6709704 C T snp 1818.77 0/1 99 182 109 73 0.4 exonic rs2230205 C3 AR,AD,AU synonymous SNV NM_000064 exon14 c.G1836A p.T612T 0.21845 0.4425 0.125019 0.1744 0.4316 Uncertain 19_6709848_C->T 19 6709848 6709848 C T snp 1123.77 0/1 99 108 61 47 0.44 exonic rs2230204 C3 AR,AD,AU synonymous SNV NM_000064 exon14 c.G1692A p.V564V 0.435304 0.4613 0.360449 0.3520 0.4710 Uncertain 19_6710572_G->A 19 6710572 6710572 G A snp 820.77 1/1 63 25 0 25 1.0 intronic rs189367 C3 AR,AD,AU NM_000064 exon29 c.32757-77G>A 0.999002 0.999 Uncertain 19_6710585_GA->- 19 6710585 6710586 GA - indel 1370.73 1/1 99 34 0 34 1.0 intronic rs112132860 C3 AR,AD,AU NM_000064 exon29 c.32757-64_32757-63delGA 0.606829 0.7609 Uncertain 19_6710948_G->A 19 6710948 6710948 G A snp 2251.77 0/1 99 183 95 88 0.48 intronic rs10411506 C3 AR,AD,AU NM_000064 exon30 c.33105-49G>A 0.216454 0.4365 0.124558 0.1729 0.4304 Uncertain 19_6713291_C->T 19 6713291 6713291 C T snp 2073.77 0/1 99 152 71 81 0.53 exonic rs2230201 C3 AR,AD,AU synonymous SNV NM_000064 exon9 c.G912A p.R304R 0.227835 0.4464 0.145856 0.1953 0.4437 Uncertain 19_6718042_C->T 19 6718042 6718042 C T snp 487.77 0/1 99 34 15 19 0.56 intronic rs11569411 C3 AR,AD,AU NM_000064 exon38 c.40212-62C>T 0.21226 0.4395 0.121332 Uncertain 19_6731057_T->C 19 6731057 6731057 T C snp 1301.77 0/1 99 111 49 62 0.56 exonic rs2279624 GPR108 AU synonymous SNV NM_001080452 exon17 c.A1500G p.G500G 0.741414 0.6687 0.801069 0.7550 0.6431 Uncertain 19_6731304_G->A 19 6731304 6731304 G A snp 775.77 0/1 99 77 39 38 0.49 intronic rs2279626 GPR108 AU NM_001080452 exon3 c.971+11G>A 0.35004 0.4534 0.354803 0.3860 0.4183 Uncertain 19_6731766_C->A 19 6731766 6731766 C A snp 86.77 0/1 33 6 2 4 0.67 intronic rs1702375 GPR108 AU NM_001080452 exon5 c.1579-135C>A 0.696286 0.6181 Uncertain 19_6732018_C->T 19 6732018 6732018 C T snp 3236.77 0/1 99 250 131 119 0.48 intronic rs2291666 GPR108 AU NM_001080452 exon6 c.1713-17C>T 0.510783 0.5635 0.562607 0.5991 0.5230 Uncertain 19_6732241_C->T 19 6732241 6732241 C T snp 2952.77 0/1 99 250 126 124 0.5 intronic rs344618 GPR108 AU NM_001080452 exon7 c.1951-32C>T 0.263379 0.3909 0.154053 0.1985 0.4254 Uncertain 19_6732615_T->C 19 6732615 6732615 T C snp 1138.77 1/1 84 38 0 38 1.0 intronic rs2047139 GPR108 AU NM_001080452 exon8 c.2238+55T>C 0.483826 0.7639 0.442181 Uncertain 19_6732982_G->A 19 6732982 6732982 G A snp 749.77 1/1 54 27 0 27 1.0 intronic rs2012357 GPR108 AU NM_001080452 exon9 c.2675-15G>A 0.504193 0.7688 0.418456 0.5505 0.7769 Uncertain 19_6733517_A->G 19 6733517 6733517 A G snp 1569.77 0/1 99 113 51 62 0.55 intronic rs339395 GPR108 AU NM_001080452 exon11 c.3258-63A>G 0.582668 0.5694 Uncertain 19_6734131_C->G 19 6734131 6734131 C G snp 3420.77 0/1 99 250 109 141 0.56 intronic rs339397 GPR108 AU NM_001080452 exon14 c.3871-62C>G 0.551118 0.5665 0.545116 Uncertain 19_6737481_T->C 19 6737481 6737481 T C snp 2057.77 1/1 99 77 0 77 1.0 exonic rs340138 GPR108 AU nonsynonymous SNV NM_001080452 exon1 c.A107G p.Q36R 0.886581 0.9861 0.885285 0.8804 0.9788 0.51 T 1.000 P -0.973 T 0.0 T 0.0 T Pathogenic 19_6737509_G->A 19 6737509 6737509 G A snp 2323.77 1/1 99 89 0 89 1.0 exonic rs339401 GPR108 AU synonymous SNV NM_001080452 exon1 c.C79T p.L27L 0.905551 0.9861 0.897210 0.8855 0.9793 0.000 P -1.076 T Likely benign 19_6737644_G->A 19 6737644 6737644 G A snp 124.77 0/1 99 31 23 8 0.26 upstream rs3745556 GPR108 AU 0.198283 0.2748 Uncertain 19_6739710_G->T 19 6739710 6739710 G T snp 127.77 0/1 30 7 2 5 0.71 UTR5 rs2303109 TRIP10 AU 0.346845 0.5099 Uncertain 19_6743399_A->T 19 6743399 6743399 A T snp 165.77 0/1 99 19 13 6 0.32 intronic rs381897 TRIP10 AU NM_004240 exon6 c.3732-105A>T 0.621206 0.5675 Uncertain 19_6743634_G->C 19 6743634 6743634 G C snp 3581.77 1/1 99 165 41 124 0.75 intronic rs339407 TRIP10 AU NM_004240 exon6 c.3837+25G>C 0.51238 0.6528 0.5195 0.6639 Uncertain 19_6744762_A->C 19 6744762 6744762 A C snp 6282.77 1/1 99 214 0 214 1.0 intronic rs339405 TRIP10 AU NM_004240 exon9 c.5038-48A>C 0.779353 0.7421 0.837767 0.8080 0.7304 Uncertain 19_6750204_C->T 19 6750204 6750204 C T snp 613.77 1/1 48 17 0 17 1.0 intronic rs339402 TRIP10 AU NM_004240 exon12 c.10530-98C>T 0.203474 0.2054 Uncertain 19_6754188_T->C 19 6754188 6754188 T C snp 2285.77 0/1 99 203 103 100 0.49 intronic rs2305807 SH2D3A AU NM_005490 exon3 c.1571+14T>C 0.344249 0.3671 0.347839 0.3251 0.3367 0.0 P -0.887 T 0.0 T 0.0 T Uncertain 19_6754774_C->A 19 6754774 6754774 C A snp 5129.77 1/1 99 188 0 188 1.0 intronic rs168129 SH2D3A AU NM_005490 exon5 c.2139+32C>A 0.997604 0.9881 0.9994 0.9925 Uncertain 19_6755007_T->C 19 6755007 6755007 T C snp 2432.77 0/1 99 233 125 108 0.46 exonic rs2305806 SH2D3A AU synonymous SNV NM_005490 exon5 c.A816G p.T272T 0.33746 0.37 0.339665 0.3044 0.3176 Uncertain 19_6755155_T->C 19 6755155 6755155 T C snp 1628.77 0/1 99 193 120 73 0.38 exonic rs12608960 SH2D3A AU nonsynonymous SNV NM_005490 exon5 c.A668G p.D223G 0.0670927 0.0546 0.096725 0.0898 0.0635 0.4 T 0.0 P -1.060 T 0.961 D 0.616 D Pathogenic 19_6760499_G->A 19 6760499 6760499 G A snp 41.77 0/1 62 4 2 2 0.5 intronic rs10417123 SH2D3A AU NM_005490 exon8 c.8045-149G>A 0.0784744 0.0536 Uncertain 19_6760520_A->G 19 6760520 6760520 A G snp 60.77 0/1 89 7 4 3 0.43 intronic rs10419595 SH2D3A AU NM_005490 exon8 c.8045-128A>G 0.115415 0.0536 Uncertain 19_6760974_T->C 19 6760974 6760974 T C snp 1930.77 0/1 99 130 54 76 0.58 exonic rs7258236 SH2D3A AU nonsynonymous SNV NM_005490 exon3 c.A94G p.N32D 0.260383 0.0565 0.283692 0.2381 0.0695 1 T 1.000 P -0.961 T 0.0 T 0.001 T Pathogenic 19_6761011_T->G 19 6761011 6761011 T G snp 1151.77 0/1 99 78 35 43 0.55 intronic rs7246122 SH2D3A AU NM_005490 exon8 c.8395+13T>G 0.260383 0.0575 0.271660 0.2657 0.0828 Uncertain 19_6763718_A->G 19 6763718 6763718 A G snp 583.77 0/1 99 68 40 28 0.41 exonic rs2305805 SH2D3A AU synonymous SNV NM_005490 exon2 c.T42C p.P14P 0.260184 0.0565 0.286714 0.2317 0.0682 0.975 P -0.906 T 0.0 T 0.0 T Likely benign 19_6820951_C->T 19 6820951 6820951 C T snp 253.77 0/1 99 22 13 9 0.41 intronic rs164016 VAV1 AU NM_005428 exon2 c.48011+122C>T 0.651158 0.5278 Uncertain 19_6821931_G->C 19 6821931 6821931 G C snp 1699.77 0/1 99 148 72 76 0.51 intronic rs906331 VAV1 AU NM_005428 exon4 c.49052+61G>C 0.245407 0.2351 0.241009 Uncertain 19_6822219_T->C 19 6822219 6822219 T C snp 160.77 0/1 99 16 8 8 0.5 intronic rs347033 VAV1 AU NM_005428 exon5 c.49413-12T>C 0.211262 0.2361 0.221434 0.2609 0.3080 Uncertain 19_6825030_T->C 19 6825030 6825030 T C snp 559.77 0/1 99 52 29 23 0.44 intronic rs55745738 VAV1 AU NM_005428 exon7 c.52245-33T>C 0.0457268 0.126 0.001845 0.0282 0.1409 ID=COSN165698;OCCURENCE=1(breast) Uncertain 19_6825307_C->T 19 6825307 6825307 C T snp 112.77 0/1 99 12 6 6 0.5 intronic rs2288545 VAV1 AU NM_005428 exon8 c.52495-6C>T 0.0459265 0.125 0.002230 0.0283 0.1389 Uncertain 19_6833072_C->T 19 6833072 6833072 C T snp 99.28 1/1 9 3 0 3 1.0 intronic rs308200 VAV1 AU NM_005428 exon16 c.60376-122C>T 0.640775 0.6776 Uncertain 19_6833777_A->G 19 6833777 6833777 A G snp 2316.77 1/1 99 79 0 79 1.0 intronic rs186295 VAV1 AU NM_005428 exon18 c.60926+33A>G 0.840655 0.7599 0.877672 0.8539 0.7402 Uncertain 19_6833989_G->T 19 6833989 6833989 G T snp 1210.77 1/1 87 44 0 44 1.0 intronic rs308199 VAV1 AU NM_005428 exon19 c.61146+25G>T 0.630192 0.7321 0.668307 0.7848 0.7097 Uncertain 19_6836271_A->C 19 6836271 6836271 A C snp 341.78 1/1 27 9 0 9 1.0 intronic rs308196 VAV1 AU NM_005428 exon20 c.63624-171A>C 0.823083 0.7589 Uncertain 19_6836836_G->A 19 6836836 6836836 G A snp 733.77 1/1 57 20 0 20 1.0 intronic rs308194 VAV1 AU NM_005428 exon21 c.64177-159G>A 0.639976 0.752 Uncertain 19_6836845_ACACACACACACACACACACAC->- 19 6836845 6836866 ACACACACACACACACACACAC - indel 4746.73 1/1 60 20 0 20 1.0 intronic rs72488791 VAV1 AU NM_005428 exon21 c.64177-150_64177-129delACACACACACACACACACACAC Uncertain 19_6847974_A->G 19 6847974 6847974 A G snp 477.77 0/1 99 29 12 17 0.59 intronic rs331680 VAV1 AU NM_005428 exon23 c.75190-34A>G 0.391973 0.369 0.314009 0.2493 0.4001 Uncertain 19_6848220_G->A 19 6848220 6848220 G A snp 189.77 0/1 99 27 16 11 0.41 intronic rs331679 VAV1 AU NM_005428 exon23 c.75307+95G>A 0.5 0.3581 Uncertain 19_6887736_G->A 19 6887736 6887736 G A snp 790.77 1/1 60 25 0 25 1.0 intronic rs3826782 ADGRE1 AU NM_001256252 exon1 c.31+86G>A 0.128195 0.3065 0.064827 Uncertain 19_6896483_G->A 19 6896483 6896483 G A snp 4206.77 1/1 99 143 0 143 1.0 exonic rs330877 ADGRE1 AU nonsynonymous SNV NM_001256253 exon3 c.G169A p.A57T 0.338059 0.3403 0.315777 0.3091 0.3605 0.99 T 0.0 P -1.097 T 0.001 T 0.001 T Pathogenic 19_6897392_G->A 19 6897392 6897392 G A snp 4662.77 1/1 99 164 0 164 1.0 intronic rs330879 ADGRE1 AU NM_001256252 exon4 c.9819-46G>A 0.478435 0.4821 0.428418 0.3672 0.5118 Uncertain 19_6897464_C->G 19 6897464 6897464 C G snp 4502.77 1/1 99 174 0 174 1.0 exonic rs330880 ADGRE1 AU nonsynonymous SNV NM_001256253 exon5 c.C420G p.S140R 0.501797 0.4831 0.449100 0.3780 0.5127 0.54 T 0.000 P -0.968 T 0.001 T 0.007 T Pathogenic 19_6898219_C->T 19 6898219 6898219 C T snp 136.03 1/1 12 5 0 5 1.0 intronic rs330881 ADGRE1 AU NM_001256252 exon4 c.9939+661C>T 0.321286 0.4633 Uncertain 19_6898487_G->T 19 6898487 6898487 G T snp 3765.77 1/1 99 131 0 131 1.0 intronic rs330882 ADGRE1 AU NM_001256252 exon4 c.9939+929G>T 0.436102 0.4544 Uncertain 19_6901891_G->A 19 6901891 6901891 G A snp 3147.77 1/1 99 124 0 124 1.0 exonic rs897738 ADGRE1 AU nonsynonymous SNV NM_001256253 exon6 c.G520A p.D174N 0.433307 0.4563 0.369522 0.3231 0.4802 0.48 T 1.000 P -0.926 T 0.033 T 0.03 T Pathogenic 19_6903920_A->G 19 6903920 6903920 A G snp 5438.77 1/1 99 199 0 199 1.0 exonic rs443658 ADGRE1 AU nonsynonymous SNV NM_001256253 exon7 c.A761G p.N254S 0.432708 0.4554 0.369445 0.3229 0.4796 1 T 0.000 P -0.903 T 0.998 D 0.994 D Pathogenic 19_6904137_C->T 19 6904137 6904137 C T snp 3724.77 1/1 99 135 0 135 1.0 exonic rs370094 ADGRE1 AU nonsynonymous SNV NM_001256253 exon8 c.C893T p.A298V 0.432708 0.4554 0.369522 0.3229 0.4787 0.1 T 0.0 P -1.044 T 0.001 T 0.006 T Pathogenic 19_6906239_C->A 19 6906239 6906239 C A snp 219.84 1/1 18 7 0 7 1.0 intronic rs415188 ADGRE1 AU NM_001256252 exon8 c.18824-204C>A 0.432907 0.4554 Uncertain 19_6906321_T->C 19 6906321 6906321 T C snp 1339.77 1/1 96 48 0 48 1.0 intronic rs447684 ADGRE1 AU NM_001256252 exon8 c.18824-122T>C 0.31869 0.4554 Uncertain 19_6906357_C->G 19 6906357 6906357 C G snp 2140.77 1/1 99 79 0 79 1.0 intronic rs366181 ADGRE1 AU NM_001256252 exon8 c.18824-86C>G 0.498602 0.4841 Uncertain 19_6908290_C->T 19 6908290 6908290 C T snp 182.9 1/1 15 5 0 5 1.0 intronic rs396827 ADGRE1 AU NM_001256252 exon9 c.21080-409C>T 0.431909 0.4563 Uncertain 19_6908456_A->G 19 6908456 6908456 A G snp 3332.77 1/1 99 120 0 120 1.0 intronic rs452907 ADGRE1 AU NM_001256252 exon9 c.21080-243A>G 0.431909 0.4563 Uncertain 19_6908557_G->A 19 6908557 6908557 G A snp 3312.77 1/1 99 120 0 120 1.0 intronic rs8113805 ADGRE1 AU NM_001256252 exon9 c.21080-142G>A 0.431909 0.4563 Uncertain 19_6913811_A->G 19 6913811 6913811 A G snp 4182.77 1/1 99 140 0 140 1.0 exonic rs457857 ADGRE1 AU nonsynonymous SNV NM_001256253 exon11 c.A1270G p.I424V 0.706669 0.7679 0.707366 0.7523 0.7687 0.33 T 0.0 P -0.965 T 0.0 T 0.0 T Pathogenic 19_6913878_G->T 19 6913878 6913878 G T snp 1210.77 1/1 90 31 0 31 1.0 intronic rs462913 ADGRE1 AU NM_001256252 exon10 c.26222+37G>T 0.706669 0.7679 0.707366 0.7524 0.7673 Uncertain 19_6916493_G->A 19 6916493 6916493 G A snp 354.78 1/1 27 10 0 10 1.0 intronic rs467439 ADGRE1 AU NM_001256252 exon11 c.28760+114G>A 0.492013 0.7629 Uncertain 19_6919529_T->C 19 6919529 6919529 T C snp 256.8 1/1 21 8 0 8 1.0 intronic rs171674 ADGRE1 AU NM_001256252 exon12 c.31939-29T>C 0.747604 0.7827 0.758804 0.7756 0.7879 Uncertain 19_6919624_A->C 19 6919624 6919624 A C snp 1750.77 1/1 99 64 0 64 1.0 exonic rs373533 ADGRE1 AU nonsynonymous SNV NM_001256253 exon13 c.A1486C p.K496Q 0.725839 0.7867 0.728279 0.7682 0.7859 0.58 T 0.0 P -0.980 T 0.0 T 0.002 T Pathogenic 19_6919753_A->G 19 6919753 6919753 A G snp 1598.77 1/1 99 60 0 60 1.0 exonic rs461645 ADGRE1 AU nonsynonymous SNV NM_001256253 exon13 c.A1615G p.I539V 0.721246 0.7808 0.726203 0.7649 0.7838 0.69 T 0.000 P -0.957 T 0.006 T 0.007 T Pathogenic 19_6919879_C->T 19 6919879 6919879 C T snp 205.84 1/1 18 6 0 6 1.0 intronic rs252566 ADGRE1 AU NM_001256252 exon12 c.32139+121C>T 0.714257 0.7768 Uncertain 19_6921713_-->T 19 6921713 6921713 - T indel 333.73 0/1 99 69 45 24 0.35 intronic rs34941944 ADGRE1 AU NM_001256252 exon13 c.34104-10insT 0.323403 0.2844 0.0027 Uncertain 19_6928358_C->T 19 6928358 6928358 C T snp 897.77 1/1 66 26 0 26 1.0 intronic rs376217414 ADGRE1 AU NM_001256252 exon16 c.40702+37C>T 0.00179712 0.0089 0.0009 0.0157 Uncertain 19_6935113_C->T 19 6935113 6935113 C T snp 4847.77 1/1 99 180 0 180 1.0 intronic rs252551 ADGRE1 AU NM_001256252 exon17 c.47470+24C>T 0.66853 0.6746 0.729971 0.7480 0.6788 Uncertain 19_6935121_-->AA 19 6935121 6935121 - AA indel 8843.73 1/1 99 179 0 179 1.0 intronic rs1160969 ADGRE1 AU NM_001256252 exon17 c.47470+32insAA 0.723722 0.7459 0.6782 Uncertain 19_6935290_C->T 19 6935290 6935290 C T snp 262.8 1/1 21 7 0 7 1.0 intronic rs252552 ADGRE1 AU NM_001256252 exon17 c.47470+201C>T 0.435903 0.6726 Uncertain 19_6937683_A->G 19 6937683 6937683 A G snp 3847.77 1/1 99 145 1 144 0.99 intronic rs388711 ADGRE1 AU NM_001256252 exon19 c.50040+24A>G 0.651757 0.6756 0.689220 0.7115 0.6803 Uncertain 19_6939910_G->A 19 6939910 6939910 G A snp 1764.77 1/1 99 55 0 55 1.0 intronic rs463891 ADGRE1 AU NM_001256252 exon20 c.52415-124G>A 0.664736 0.6726 Uncertain 19_6940189_G->C 19 6940189 6940189 G C snp 1148.77 1/1 84 34 0 34 1.0 UTR3 rs464849 ADGRE1 AU 0.651558 0.6538 Uncertain 19_6954725_G->A 19 6954725 6954725 G A snp 5400.77 1/1 99 201 1 200 1.0 ncRNA_intronic rs11085209 ADGRE4P AU 0.732428 0.7083 0.7776 0.7525 Uncertain 19_6960834_A->C 19 6960834 6960834 A C snp 666.77 1/1 51 19 0 19 1.0 ncRNA_intronic rs459883 ADGRE4P AU 0.730032 0.9137 Uncertain 19_6961182_G->A 19 6961182 6961182 G A snp 759.77 1/1 57 20 0 20 1.0 ncRNA_intronic rs460698 ADGRE4P AU 0.720847 0.9117 Uncertain 19_6963455_A->G 19 6963455 6963455 A G snp 93.28 1/1 9 3 0 3 1.0 ncRNA_intronic rs670152 ADGRE4P AU 0.732228 0.9137 Uncertain 19_6974564_C->T 19 6974564 6974564 C T snp 3727.77 1/1 99 140 1 139 0.99 ncRNA_exonic rs466123 ADGRE4P AU 0.641374 0.6508 0.626150 0.6967 0.6763 Uncertain 19_6977118_C->A 19 6977118 6977118 C A snp 784.77 1/1 60 20 0 20 1.0 ncRNA_intronic rs4807918 ADGRE4P AU 0.607029 0.6419 Uncertain 19_6977211_A->G 19 6977211 6977211 A G snp 5404.77 1/1 99 192 0 192 1.0 ncRNA_intronic rs4807919 ADGRE4P AU 0.607228 0.6438 0.597522 0.6512 0.6454 Uncertain 19_6977409_C->T 19 6977409 6977409 C T snp 4646.77 1/1 99 152 1 151 0.99 ncRNA_intronic rs7255801 ADGRE4P AU 0.588658 0.6319 0.575910 0.6451 0.6371 Uncertain 19_6977500_G->C 19 6977500 6977500 G C snp 546.77 1/1 42 15 0 15 1.0 ncRNA_intronic rs7254998 ADGRE4P AU 0.60643 0.6419 Uncertain 19_6980939_T->C 19 6980939 6980939 T C snp 692.77 1/1 51 20 0 20 1.0 ncRNA_intronic rs2035972 ADGRE4P AU 0.982029 0.999 Uncertain 19_6981582_A->T 19 6981582 6981582 A T snp 1696.77 1/1 99 46 0 46 1.0 ncRNA_intronic rs2035971 ADGRE4P AU 0.59984 0.6419 Uncertain 19_6981763_G->A 19 6981763 6981763 G A snp 6278.77 1/1 99 228 0 228 1.0 ncRNA_exonic rs2035970 ADGRE4P AU 0.154153 0.2411 0.104784 0.1425 0.2521 Uncertain 19_6981849_T->C 19 6981849 6981849 T C snp 2053.77 1/1 99 64 0 64 1.0 ncRNA_intronic rs1874003 ADGRE4P AU 0.983626 1 0.985326 Uncertain 19_6981885_T->C 19 6981885 6981885 T C snp 939.77 1/1 69 25 0 25 1.0 ncRNA_intronic rs1874002 ADGRE4P AU 0.59984 0.6429 Uncertain 19_6984708_G->A 19 6984708 6984708 G A snp 4401.77 1/1 99 156 0 156 1.0 ncRNA_exonic rs7247453 ADGRE4P AU 0.597244 0.6419 0.582645 0.6554 0.6481 Uncertain 19_6984927_T->C 19 6984927 6984927 T C snp 903.77 1/1 66 24 0 24 1.0 ncRNA_intronic rs34752448 ADGRE4P AU 0.60004 0.6419 Uncertain 19_6988662_T->C 19 6988662 6988662 T C snp 603.77 1/1 45 18 0 18 1.0 ncRNA_intronic rs8107779 ADGRE4P AU 0.597244 0.6419 Uncertain 19_6988791_G->C 19 6988791 6988791 G C snp 2974.77 1/1 99 109 0 109 1.0 ncRNA_intronic rs8103492 ADGRE4P AU 0.597045 0.6419 0.582132 0.6460 0.6410 Uncertain 19_6988914_A->G 19 6988914 6988914 A G snp 1322.77 1/1 96 43 0 43 1.0 ncRNA_intronic rs1466715 ADGRE4P AU 0.597244 0.6419 0.585633 Uncertain 19_6990537_C->T 19 6990537 6990537 C T snp 50.74 1/1 6 2 0 2 1.0 ncRNA_intronic rs8105054 ADGRE4P AU 0.534744 0.4276 Uncertain 19_6991010_C->T 19 6991010 6991010 C T snp 139.03 1/1 12 4 0 4 1.0 upstream rs8108538 ADGRE4P AU 0.978435 1 Uncertain 19_6991022_C->T 19 6991022 6991022 C T snp 90.28 1/1 9 3 0 3 1.0 upstream rs4807921 ADGRE4P AU 0.980032 1 Uncertain 19_6994987_C->A 19 6994987 6994987 C A snp 6930.77 1/1 99 250 0 250 1.0 intergenic rs6510937 ADGRE4P AU 0.216054 0.2917 Uncertain 19_7005905_T->A 19 7005905 7005905 T A snp 367.77 1/1 30 47 0 47 1.0 ncRNA_exonic rs6510941 FLJ25758 AU 0.985423 1 Uncertain 19_7011766_T->C 19 7011766 7011766 T C snp 541.77 0/1 99 44 20 24 0.55 intergenic rs6510942 FLJ25758 AU 0.910942 0.9008 Uncertain 19_7012026_A->G 19 7012026 7012026 A G snp 34.77 0/1 63 56 29 27 0.48 intergenic rs8108169 FLJ25758 AU 0.325679 0.1954 0.1580 0.1271 Uncertain 19_7075697_AGA->- 19 7075697 7075699 AGA - indel 2030.73 0/1 99 80 41 39 0.49 exonic rs202050084 ZNF557 AU nonframeshift deletion NM_001044387 exon4 c.63_65del p.21_22del 0.00678914 0.0337 0.000160 0.0027 0.0363 Uncertain 19_7075804_T->C 19 7075804 7075804 T C snp 2732.77 1/1 99 101 0 101 1.0 intronic rs79153078 ZNF557 AU NM_024341 exon4 c.669+50T>C 0.0529153 0.1855 0.008919 0.0236 0.2015 Uncertain 19_7083629_A->G 19 7083629 7083629 A G snp 2485.77 1/1 99 79 0 79 1.0 exonic rs966591 ZNF557 AU synonymous SNV NM_001044387 exon8 c.A1167G p.S389S 0.445687 0.5218 0.425984 0.4150 0.5454 Uncertain 19_7083761_A->G 19 7083761 7083761 A G snp 2942.77 1/1 99 111 1 110 0.99 UTR3 rs8110740 ZNF557 AU 0.445687 0.5218 0.426500 0.4189 0.5470 Uncertain 19_7116963_T->C 19 7116963 7116963 T C snp 414.77 1/1 33 11 0 11 1.0 UTR3 rs1051690 INSR AU,AD,AR 0.877396 0.9484 ID=CR082021;DIS=Colorectal cancer, increased risk, association with;TAG=DFP;PUB=18192692 DFP Uncertain 19_7122495_-->A 19 7122495 7122495 - A indel 78.73 0/1 64 8 3 5 0.63 intronic rs540270997 INSR AU,AD,AR NM_000208 exon4 c.5558-129insA 0.0181709 0.0149 Uncertain 19_7122512_T->- 19 7122512 7122512 T - indel 326.73 0/1 99 15 6 9 0.6 intronic rs34073323 INSR AU,AD,AR NM_000208 exon4 c.5558-112delT Uncertain 19_7132080_G->T 19 7132080 7132080 G T snp 1099.77 0/1 99 75 33 42 0.56 intronic rs546068630 INSR AU,AD,AR NM_000208 exon9 c.15102-88G>T 0.000798722 0.004 Uncertain 19_7132081_C->T 19 7132081 7132081 C T snp 1132.77 0/1 99 76 33 43 0.57 intronic rs2860175 INSR AU,AD,AR NM_000208 exon9 c.15102-87C>T 0.158746 0.1181 Uncertain 19_7150418_C->G 19 7150418 7150418 C G snp 462.77 0/1 99 21 7 14 0.67 intronic rs2252673 INSR AU,AD,AR NM_000208 exon12 c.33441-89C>G 0.660144 0.3671 Uncertain 19_7152703_C->T 19 7152703 7152703 C T snp 356.77 0/1 99 22 7 15 0.68 intronic rs3745548 INSR AU,AD,AR NM_000208 exon13 c.35670-33C>T 0.136182 0.4871 0.004383 0.0738 0.5088 Uncertain 19_7166109_A->G 19 7166109 7166109 A G snp 1062.77 0/1 99 80 37 43 0.54 intronic rs2059807 INSR AU,AD,AR NM_000208 exon15 c.49098-55A>G 0.614617 0.3671 Uncertain 19_7166138_G->A 19 7166138 7166138 G A snp 1222.77 0/1 99 104 50 54 0.52 intronic rs3815902 INSR AU,AD,AR NM_000208 exon15 c.49098-26G>A 0.204273 0.2312 0.202061 0.2392 0.2070 Uncertain 19_7166376_C->T 19 7166376 7166376 C T snp 1760.77 0/1 99 180 105 75 0.42 exonic rs2059806 INSR AU,AD,AR synonymous SNV NM_000208 exon8 c.G1650A p.A550A 0.244808 0.2798 0.225511 0.2549 0.2493 ID=CM004252;DIS=Reduced diastolic blood pressure, association with;TAG=DP;PUB=10933564 DP Uncertain 19_7167951_T->G 19 7167951 7167951 T G snp 683.77 0/1 99 33 11 22 0.67 intronic rs2860177 INSR AU,AD,AR NM_000208 exon16 c.50912-27T>G 0.247804 0.2589 0.231432 0.2570 0.2422 Uncertain 19_7168213_C->G 19 7168213 7168213 C G snp 1616.77 0/1 99 128 59 69 0.54 intronic rs2245143 INSR AU,AD,AR NM_000208 exon16 c.51039+108C>G 0.247604 0.2589 Uncertain 19_7170517_A->G 19 7170517 7170517 A G snp 96.28 1/1 9 3 0 3 1.0 intronic rs2860178 INSR AU,AD,AR NM_000208 exon17 c.53481-30A>G 0.54972 0.3442 0.541827 0.4722 0.3118 Uncertain 19_7184275_C->T 19 7184275 7184275 C T snp 304.77 0/1 99 19 8 11 0.58 intronic rs2860179 INSR AU,AD,AR NM_000208 exon20 c.67260-51C>T 0.163339 0.0942 0.126090 Uncertain 19_7184518_G->A 19 7184518 7184518 G A snp 1060.77 0/1 99 95 46 49 0.52 exonic rs891087 INSR AU,AD,AR synonymous SNV NM_000208 exon3 c.C783T p.D261D 0.138578 0.0486 0.125481 0.1029 0.0404 Uncertain 19_7267939_G->A 19 7267939 7267939 G A snp 906.77 0/1 99 58 23 35 0.6 intronic rs3745544 INSR AU,AD,AR NM_000208 exon21 c.150841+32G>A 0.0507188 0.1845 0.001076 0.0357 0.2175 Uncertain 19_7293898_G->C 19 7293898 7293898 G C snp 146.03 1/1 12 7 0 7 1.0 exonic rs7508518 INSR AU,AD,AR nonsynonymous SNV NM_000208 exon1 c.C5G p.A2G 1 1 1 . 1 T 0.0 P -0.961 T 0.0 T 0.0 T Pathogenic 19_7427607_T->C 19 7427607 7427607 T C snp 2228.77 1/1 99 76 0 76 1.0 intergenic rs11260007 INSR AU,AD,AR 0.762979 0.8581 Uncertain 19_7504767_G->T 19 7504767 7504767 G T snp 81.77 0/1 69 6 2 4 0.67 UTR5 rs10401415 ARHGEF18 AU 0.348842 0.4206 Uncertain 19_7504982_C->T 19 7504982 7504982 C T snp 1554.77 0/1 99 138 76 62 0.45 exonic rs10422503 ARHGEF18 AU synonymous SNV NM_001130955 exon1 c.C156T p.G52G 0.344848 0.4196 0.3705 0.4215 Uncertain 19_7506448_C->T 19 7506448 7506448 C T snp 1398.77 0/1 99 115 55 60 0.52 intronic rs182934371 ARHGEF18 AU NM_015318 exon3 c.1238-90C>T 0.000998403 0.005 Uncertain 19_7506668_T->G 19 7506668 7506668 T G snp 1556.77 0/1 99 129 65 64 0.5 intronic rs2287909 ARHGEF18 AU NM_015318 exon3 c.1351+17T>G 0.371206 0.4216 0.339459 0.3620 0.4277 Uncertain 19_7506755_A->G 19 7506755 7506755 A G snp 426.77 0/1 99 38 22 16 0.42 intronic rs2287910 ARHGEF18 AU NM_015318 exon4 c.1497-42A>G 0.48742 0.6012 0.415731 0.4057 0.6013 Uncertain 19_7506982_C->G 19 7506982 7506982 C G snp 471.77 0/1 99 35 19 16 0.46 intronic rs10424311 ARHGEF18 AU NM_015318 exon4 c.1638+44C>G 0.484625 0.6012 0.412733 0.4053 0.6016 Uncertain 19_7509436_G->A 19 7509436 7509436 G A snp 459.77 0/1 99 49 28 21 0.43 intronic rs12983399 ARHGEF18 AU NM_015318 exon5 c.4040+96G>A 0.182508 0.1319 Uncertain 19_7509492_G->A 19 7509492 7509492 G A snp 94.77 0/1 99 16 11 5 0.31 intronic rs12983450 ARHGEF18 AU NM_015318 exon5 c.4040+152G>A 0.182508 0.1319 Uncertain 19_7512065_T->A 19 7512065 7512065 T A snp 465.77 0/1 99 43 24 19 0.44 intronic rs59050162 ARHGEF18 AU NM_015318 exon6 c.6754+11T>A 0.170128 0.1319 0.160720 0.3030 0.2378 Uncertain 19_7516243_A->G 19 7516243 7516243 A G snp 37.77 0/1 66 8 6 2 0.25 intronic rs12610760 ARHGEF18 AU NM_015318 exon7 c.10852+91A>G 0.250799 0.2778 Uncertain 19_7518268_-->C 19 7518268 7518268 - C indel 857.73 1/1 66 22 0 22 1.0 intronic rs11463454 ARHGEF18 AU NM_015318 exon8 c.13052-84insC 0.836661 0.8492 Uncertain 19_7524727_G->A 19 7524727 7524727 G A snp 1973.77 0/1 99 168 85 83 0.49 intronic rs34322626 ARHGEF18 AU NM_015318 exon11 c.19488-61G>A 0.157548 0.12 Uncertain 19_7524743_G->C 19 7524743 7524743 G C snp 2000.77 0/1 99 176 88 88 0.5 intronic rs11259996 ARHGEF18 AU NM_015318 exon11 c.19488-45G>C 0.511981 0.5645 0.478843 0.5549 0.5357 Uncertain 19_7524846_C->T 19 7524846 7524846 C T snp 1331.77 0/1 99 111 60 51 0.46 exonic rs2287914 ARHGEF18 AU synonymous SNV NM_001130955 exon10 c.C1854T p.V618V 0.1873 0.12 0.205674 0.3022 0.2334 Uncertain 19_7524855_C->T 19 7524855 7524855 C T snp 1259.77 0/1 99 103 54 49 0.48 exonic rs2287915 ARHGEF18 AU synonymous SNV NM_001130955 exon10 c.C1863T p.R621R 0.227037 0.2728 0.211974 0.3075 0.3877 Uncertain 19_7528734_A->G 19 7528734 7528734 A G snp 2048.77 1/1 99 76 0 76 1.0 exonic rs2287918 ARHGEF18 AU nonsynonymous SNV NM_001130955 exon12 c.A2102G p.Q701R 0.832468 0.8333 0.808962 0.7741 0.8311 0.71 T 0.0 P -1.021 T 0.0 T 0.001 T Pathogenic 19_7529415_C->T 19 7529415 7529415 C T snp 1787.77 0/1 99 154 85 69 0.45 intronic rs2287919 ARHGEF18 AU NM_015318 exon14 c.24145-30C>T 0.155152 0.119 0.176380 0.1985 0.1413 Uncertain 19_7532252_G->C 19 7532252 7532252 G C snp 486.77 0/1 99 62 39 23 0.37 exonic rs2303142 ARHGEF18 AU synonymous SNV NM_001130955 exon16 c.G2598C p.A866A 0.228235 0.12 0.191085 0.2205 0.1647 Uncertain 19_7533767_T->G 19 7533767 7533767 T G snp 2755.77 1/1 99 101 0 101 1.0 exonic rs10405143 ARHGEF18 AU synonymous SNV NM_001130955 exon17 c.T2973G p.R991R 0.790535 0.8115 0.770136 0.7236 0.7778 Uncertain 19_7533850_A->G 19 7533850 7533850 A G snp 2146.77 1/1 99 79 1 78 0.99 exonic rs9329368 ARHGEF18 AU nonsynonymous SNV NM_001130955 exon17 c.A3056G p.N1019S 0.834265 0.8433 0.812169 0.7700 0.8273 0.83 T 0.0 P -0.997 T 0.0 T 0.0 T Pathogenic 19_7534075_C->T 19 7534075 7534075 C T snp 149.77 0/1 55 7 2 5 0.71 intronic rs2241396 ARHGEF18 AU NM_015318 exon18 c.28717+58C>T 0.369609 0.4494 Uncertain 19_7535249_C->A 19 7535249 7535249 C A snp 220.77 0/1 99 21 11 10 0.48 intronic rs12972299 ARHGEF18 AU NM_015318 exon20 c.29901+48C>A 0.155152 0.1141 Uncertain 19_7538039_A->G 19 7538039 7538039 A G snp 4188.77 1/1 99 149 2 147 0.99 ncRNA_exonic rs11880122 LOC100128573 AU 0.821685 0.8651 0.7989 0.7826 Uncertain 19_7538117_A->G 19 7538117 7538117 A G snp 1581.77 0/1 99 148 80 68 0.46 ncRNA_exonic rs11880140 LOC100128573 AU 0.647364 0.7599 0.6125 0.6765 Uncertain 19_7542118_G->A 19 7542118 7542118 G A snp 1158.77 0/1 99 95 45 50 0.53 exonic rs7256275 PEX11G AU synonymous SNV NM_001270539 exon5 c.C513T p.A171A 0.141374 0.1389 0.108900 0.2270 0.2516 Uncertain 19_7543080_T->A 19 7543080 7543080 T A snp 172.77 0/1 99 17 10 7 0.41 intronic rs7251754 PEX11G AU NM_080662 exon2 c.1112-119T>A 0.376198 0.3254 Uncertain 19_7543113_T->C 19 7543113 7543113 T C snp 339.77 0/1 99 27 14 13 0.48 intronic rs7251857 PEX11G AU NM_080662 exon2 c.1112-86T>C 0.353435 0.3829 Uncertain 19_7547074_A->C 19 7547074 7547074 A C snp 1651.77 0/1 99 173 96 77 0.45 exonic rs2303146 PEX11G AU nonsynonymous SNV NM_001270539 exon3 c.T273G p.C91W 0.457468 0.4435 0.419843 0.4174 0.4515 0.33 T 0.0 P -0.962 T 0.0 T 0.002 T Pathogenic 19_7550844_G->A 19 7550844 7550844 G A snp 838.77 0/1 99 55 25 30 0.55 exonic rs34970001 PEX11G AU synonymous SNV NM_001270539 exon2 c.C129T p.S43S 0.255192 0.2083 0.272259 0.2643 0.1760 Uncertain 19_7565823_A->G 19 7565823 7565823 A G snp 974.77 0/1 99 95 51 44 0.46 exonic rs140134109 C19orf45 AU nonsynonymous SNV NM_198534 exon2 c.A115G p.M39V 0.0101837 0.0496 0.0062 0.0706 0.06 T 1 N -0.986 T 0.034 T 0.027 T Pathogenic 19_7568966_-->TCTCTCTCTCTC 19 7568966 7568966 - TCTCTCTCTCTC indel 1610.73 0/1 99 25 13 12 0.48 intronic rs113706007 C19orf45 AU NM_198534 exon3 c.3298-40insTCTCTCTCTCTC 0.266773 0.1706 0.2623 0.1345 Uncertain 19_7569282_A->G 19 7569282 7569282 A G snp 960.77 0/1 99 99 54 45 0.45 exonic rs484870 C19orf45 AU nonsynonymous SNV NM_198534 exon4 c.A767G p.D256G 0.348442 0.1736 0.408273 0.3499 0.1555 1 T 0.000 P -0.957 T 0.0 T 0.0 T Pathogenic 19_7570729_G->A 19 7570729 7570729 G A snp 424.77 0/1 99 19 6 13 0.68 intronic rs683729 C19orf45 AU NM_198534 exon7 c.5141-120G>A 0.576078 0.3165 Uncertain 19_7570978_T->C 19 7570978 7570978 T C snp 1084.77 0/1 99 127 76 51 0.4 exonic rs685034 C19orf45 AU synonymous SNV NM_198534 exon7 c.T1134C p.P378P 0.636781 0.4544 0.689220 0.6261 0.4187 Uncertain 19_7570990_A->G 19 7570990 7570990 A G snp 1057.77 0/1 99 119 68 51 0.43 exonic rs685048 C19orf45 AU synonymous SNV NM_198534 exon7 c.A1146G p.R382R 0.342851 0.1736 0.402814 0.3429 0.1557 Uncertain 19_7571030_T->A 19 7571030 7571030 T A snp 873.77 0/1 99 83 48 35 0.42 exonic rs3826736 C19orf45 AU nonsynonymous SNV NM_198534 exon7 c.T1186A p.Y396N 0.403554 0.3165 0.423574 0.3678 0.2794 0.35 T 0.0 P -0.957 T 0.0 T 0.0 T Pathogenic 19_7572169_G->C 19 7572169 7572169 G C snp 1223.77 0/1 99 81 39 42 0.52 intronic rs505570 C19orf45 AU NM_198534 exon8 c.6319+142G>C 0.301318 0.1746 Uncertain 19_7573098_T->A 19 7573098 7573098 T A snp 589.77 0/1 99 73 42 31 0.42 exonic rs475923 C19orf45 AU nonsynonymous SNV NM_198534 exon9 c.T1300A p.Y434N 0.288339 0.1746 0.341741 0.3270 0.1578 0.8 T 0.444 P -0.972 T 1.0 D 0.999 D Pathogenic 19_7573287_C->T 19 7573287 7573287 C T snp 432.77 0/1 99 34 17 17 0.5 exonic rs1133378 C19orf45 AU nonsynonymous SNV NM_198534 exon9 c.C1489T p.P497S 0.239217 0.1746 0.283836 0.2889 0.1544 0.15 T 0.0 P -0.905 T 0.992 D 0.876 D Pathogenic 19_7573297_T->C 19 7573297 7573297 T C snp 392.77 0/1 99 28 14 14 0.5 exonic rs608144 C19orf45 AU nonsynonymous SNV NM_198534 exon9 c.T1499C p.L500P 0.300919 0.1746 0.348585 0.3254 0.1555 1 T 0.049 P -0.934 T 0.0 T 0.0 T Pathogenic 19_7573301_C->T 19 7573301 7573301 C T snp 400.77 0/1 99 27 14 13 0.48 exonic rs1133380 C19orf45 AU synonymous SNV NM_198534 exon9 c.C1503T p.C501C 0.239417 0.1756 0.274992 0.2926 0.1566 Uncertain 19_7593169_A->G 19 7593169 7593169 A G snp 1501.77 0/1 99 109 49 60 0.55 intronic rs2305889 MCOLN1 AR NM_020533 exon7 c.5507+26A>G 0.282149 0.3393 0.269337 0.2949 0.3084 Uncertain 19_7606737_G->C 19 7606737 7606737 G C snp 587.77 0/1 99 59 34 25 0.42 intronic rs492092 PNPLA6 AR NM_001166113 exon13 c.6433-132G>C 0.696286 0.5615 Uncertain 19_7607023_T->C 19 7607023 7607023 T C snp 116.77 0/1 99 11 6 5 0.45 intronic rs577866 PNPLA6 AR NM_001166113 exon13 c.6517+70T>C 0.4377 0.5595 Uncertain 19_7607564_T->C 19 7607564 7607564 T C snp 1324.77 0/1 99 113 58 55 0.49 intronic rs620744 PNPLA6 AR NM_001166113 exon14 c.7120+8T>C 0.694489 0.5615 0.699644 0.6385 0.5247 Uncertain 19_7615585_T->G 19 7615585 7615585 T G snp 234.77 0/1 88 11 4 7 0.64 intronic rs577219 PNPLA6 AR NM_001166113 exon19 c.15090+59T>G 0.66853 0.5694 Uncertain 19_7616347_G->A 19 7616347 7616347 G A snp 2107.77 0/1 99 181 88 93 0.51 intronic rs473899 PNPLA6 AR NM_001166113 exon21 c.15887+24G>A 0.552117 0.5675 0.491695 0.5561 0.5574 Uncertain 19_7616474_C->G 19 7616474 7616474 C G snp 255.77 0/1 99 19 9 10 0.53 intronic rs661825 PNPLA6 AR NM_001166113 exon21 c.15887+151C>G 0.556909 0.5893 Uncertain 19_7616519_G->A 19 7616519 7616519 G A snp 50.74 1/1 6 2 0 2 1.0 intronic rs496380 PNPLA6 AR NM_001166113 exon21 c.15887+196G>A 0.54992 0.5883 Uncertain 19_7618660_A->G 19 7618660 7618660 A G snp 1267.77 0/1 99 122 68 54 0.44 intronic rs508740 PNPLA6 AR NM_001166113 exon22 c.18321-97A>G 0.411941 0.371 Uncertain 19_7619199_C->G 19 7619199 7619199 C G snp 851.77 0/1 99 108 73 35 0.32 intronic rs534464 PNPLA6 AR NM_001166113 exon23 c.18722+41C>G 0.753395 0.5962 0.765032 0.7912 0.5929 Uncertain 19_7619229_T->C 19 7619229 7619229 T C snp 647.77 0/1 99 99 68 31 0.31 intronic rs563266 PNPLA6 AR NM_001166113 exon23 c.18722+71T>C 0.40635 0.3452 Uncertain 19_7619239_T->C 19 7619239 7619239 T C snp 683.77 0/1 99 95 62 33 0.35 intronic rs597582 PNPLA6 AR NM_001166113 exon23 c.18722+81T>C 0.753994 0.5992 Uncertain 19_7619329_G->A 19 7619329 7619329 G A snp 1022.77 0/1 99 70 32 38 0.54 intronic rs598023 PNPLA6 AR NM_001166113 exon24 c.19004-111G>A 0.753395 0.5962 Uncertain 19_7619338_G->C 19 7619338 7619338 G C snp 1046.77 0/1 99 68 30 38 0.56 intronic rs598028 PNPLA6 AR NM_001166113 exon24 c.19004-102G>C 0.753395 0.5962 Uncertain 19_7619647_G->C 19 7619647 7619647 G C snp 544.77 0/1 99 51 31 20 0.39 intronic rs599328 PNPLA6 AR NM_001166113 exon24 c.19173+38G>C 0.752196 0.5933 0.807793 0.7866 0.5833 Uncertain 19_7619648_T->C 19 7619648 7619648 T C snp 540.77 0/1 99 51 31 20 0.39 intronic rs599330 PNPLA6 AR NM_001166113 exon24 c.19173+39T>C 0.753594 0.5962 0.735792 0.7870 0.5831 Uncertain 19_7619700_G->A 19 7619700 7619700 G A snp 730.77 0/1 99 43 16 27 0.63 intronic rs524530 PNPLA6 AR NM_001166113 exon25 c.19342-78G>A 0.753395 0.5962 Uncertain 19_7621648_C->T 19 7621648 7621648 C T snp 411.77 0/1 99 23 9 14 0.61 intronic rs489056 PNPLA6 AR NM_001166113 exon29 c.21174+38C>T 0.379593 0.2034 0.495387 0.5143 0.1867 Uncertain 19_7621981_A->G 19 7621981 7621981 A G snp 485.77 0/1 99 25 10 15 0.6 intronic rs2446176 PNPLA6 AR NM_001166113 exon30 c.21617-72A>G 0.80012 0.5923 Uncertain 19_7622226_G->A 19 7622226 7622226 G A snp 1175.77 0/1 99 130 75 55 0.42 intronic rs1645800 PNPLA6 AR NM_001166113 exon30 c.21734+56G>A 0.533347 0.3482 Uncertain 19_7623700_G->A 19 7623700 7623700 G A snp 326.77 0/1 99 29 14 15 0.52 intronic rs535208 PNPLA6 AR NM_001166113 exon31 c.23299-35G>A 0.538339 0.3462 0.587152 0.6295 0.3945 Uncertain 19_7624078_C->T 19 7624078 7624078 C T snp 2224.77 0/1 99 209 116 93 0.44 intronic rs538850 PNPLA6 AR NM_001166113 exon31 c.23601+41C>T 0.41274 0.3462 0.406735 0.4638 0.3318 Uncertain 19_7625864_-->C 19 7625864 7625864 - C indel 1464.73 0/1 99 105 48 57 0.54 intronic rs35902090 PNPLA6 AR NM_001166113 exon33 c.25463-35insC 0.183307 0.4048 0.2269 0.4410 Uncertain 19_7626014_C->- 19 7626014 7626014 C - indel 3370.73 0/1 99 229 103 126 0.55 intronic rs11307097 PNPLA6 AR NM_001166113 exon33 c.25560+18delC 0.586462 0.6548 0.5645 0.6799 Uncertain 19_7626669_G->A 19 7626669 7626669 G A snp 1273.77 0/1 99 117 61 56 0.48 downstream rs2303178 PNPLA6 AR 0.307308 0.4038 Uncertain 19_7670033_-->GTGTGT 19 7670033 7670033 - GTGTGT indel 1491.73 0/1 99 72 44 28 0.39 intronic CAMSAP3 AU NM_020902 exon2 c.9223-78insGTGTGT Uncertain 19_7682112_A->C 19 7682112 7682112 A C snp 191.77 0/1 99 11 5 6 0.55 intronic rs794077 CAMSAP3 AU NM_020902 exon15 c.21323-99A>C 0.738419 0.8095 Uncertain 19_7693231_C->T 19 7693231 7693231 C T snp 830.77 0/1 99 40 9 31 0.78 intronic rs4134819 XAB2 AU NM_020196 exon18 c.8713+47C>T 0.171526 0.4712 0.048216 0.0755 0.4794 Uncertain 19_7694662_T->C 19 7694662 7694662 T C snp 2047.77 0/1 99 209 117 92 0.44 upstream rs3760675 PET100 AR,AO 0.172125 0.4742 Uncertain 19_7696187_G->A 19 7696187 7696187 G A snp 71.77 0/1 96 6 3 3 0.5 intronic rs150825159 PET100 AR,AO NM_001171155 exon4 c.1639-171G>A 0.000798722 0.004 Uncertain 19_7703605_C->T 19 7703605 7703605 C T snp 910.77 0/1 99 88 46 42 0.48 intronic rs8104339 STXBP2 AU NM_001127396 exon2 c.1576-6C>T 0.482428 0.6835 0.426572 0.4044 0.6627 Uncertain 19_7705440_-->TG 19 7705440 7705440 - TG indel 840.73 0/1 99 55 29 26 0.47 intronic rs34833262 STXBP2 AU NM_001272034 exon5 c.3548-143insTG 0.155152 0.4772 0.0674 0.5467 Uncertain 19_7708214_G->A 19 7708214 7708214 G A snp 121.77 0/1 99 9 3 6 0.67 intronic rs2303115 STXBP2 AU NM_001127396 exon13 c.6096+83G>A 0.522764 0.7024 Uncertain 19_7710040_T->C 19 7710040 7710040 T C snp 835.77 0/1 99 92 52 40 0.43 intronic rs929807 STXBP2 AU NM_001127396 exon15 c.8047-42T>C 0.526957 0.7034 0.419431 0.3932 0.6931 Uncertain 19_7710210_A->G 19 7710210 7710210 A G snp 905.77 0/1 99 61 29 32 0.52 intronic rs889187 STXBP2 AU NM_001127396 exon15 c.8157+18A>G 0.516374 0.7034 0.425430 0.4620 0.7122 Uncertain 19_7710269_A->G 19 7710269 7710269 A G snp 143.77 0/1 99 17 10 7 0.41 intronic rs710951 STXBP2 AU NM_001127396 exon15 c.8157+77A>G 0.711661 0.8204 Uncertain 19_7711221_T->C 19 7711221 7711221 T C snp 1495.77 0/1 99 127 59 68 0.54 exonic rs10001 STXBP2 AU synonymous SNV NM_006949 exon16 c.T1443C p.D481D 0.504193 0.7034 0.415564 0.4626 0.7061 Uncertain 19_7712277_A->G 19 7712277 7712277 A G snp 1191.77 0/1 99 109 59 50 0.46 exonic rs6791 STXBP2 AU nonsynonymous SNV NM_006949 exon18 c.A1576G p.I526V 0.70607 0.8185 0.667309 0.6352 0.8211 0.68 T 0.0 P -0.992 T 0.0 T 0.0 T Pathogenic 19_7712417_A->G 19 7712417 7712417 A G snp 668.77 0/1 99 74 44 30 0.41 intronic rs2303113 STXBP2 AU NM_001127396 exon18 c.10362+20A>G 0.196086 0.4861 0.063560 0.0832 0.5003 Uncertain 19_7712585_T->G 19 7712585 7712585 T G snp 442.77 0/1 99 41 23 18 0.44 intronic rs794073 STXBP2 AU NM_001127396 exon19 c.10575-25T>G 0.666385 0.6343 0.8250 Uncertain 19_7734511_G->A 19 7734511 7734511 G A snp 372.77 1/1 30 11 0 11 1.0 intronic rs3745367 RETN AD NM_001193374 exon2 c.118+181G>A 0.434704 0.3313 Uncertain 19_7735297_G->A 19 7735297 7735297 G A snp 519.77 0/1 99 31 13 18 0.58 UTR3 rs3745368 RETN AD 0.090655 0.1577 ID=CR032443;DIS=Insulin resistance hypertension, reduced risk, association;TAG=DP;PUB=12629116 DP Uncertain 19_7735319_GATGATGAT->- 19 7735319 7735327 GATGATGAT - indel 668.77 1/1 21 15 0 15 1.0 UTR3 rs112669651 RETN AD Uncertain 19_7742345_G->A 19 7742345 7742345 G A snp 115.77 0/1 97 8 3 5 0.63 intronic rs8107661 MCEMP1 AU NM_174918 exon2 c.555-177G>A 0.483826 0.494 Uncertain 19_7743821_A->G 19 7743821 7743821 A G snp 292.77 0/1 99 31 18 13 0.42 exonic rs72996468 MCEMP1 AU nonsynonymous SNV NM_174918 exon6 c.A499G p.I167V 0.0924521 0.1052 0.123443 0.1834 0.1964 0.25 T 0.0 P -0.993 T 0.008 T 0.007 T Pathogenic 19_7743879_C->T 19 7743879 7743879 C T snp 815.77 0/1 99 71 37 34 0.48 intronic rs4804766 MCEMP1 AU NM_174918 exon6 c.1902+10C>T 0.279153 0.2292 0.304184 0.3776 0.3076 Uncertain 19_7744076_CC->- 19 7744076 7744077 CC - indel 521.73 ./1 99 25 0 25 1.0 UTR3 rs112807024 MCEMP1 AU Uncertain 19_7744076_C->- 19 7744076 7744076 C - indel 521.73 ./1 99 25 0 25 1.0 UTR3 rs369820452 MCEMP1 AU Uncertain 19_7747293_T->G 19 7747293 7747293 T G snp 821.77 0/1 99 100 61 39 0.39 exonic rs6952 TRAPPC5 AU nonsynonymous SNV NM_001042461 exon2 c.T154G p.S52A 0.358027 0.2669 0.328579 0.3848 0.3382 0.64 T 0.000 P -0.919 T 0.0 T 0.002 T Pathogenic 19_7754912_G->A 19 7754912 7754912 G A snp 268.77 0/1 99 36 24 12 0.33 intronic rs4996980 FCER2 AU NM_002002 exon2 c.966-132G>A 0.440296 0.3423 Uncertain 19_7754917_T->C 19 7754917 7754917 T C snp 303.77 0/1 99 39 24 15 0.38 intronic rs4996979 FCER2 AU NM_002002 exon2 c.966-127T>C 0.440296 0.3423 Uncertain 19_7754942_A->C 19 7754942 7754942 A C snp 468.77 0/1 99 54 34 20 0.37 intronic rs4996978 FCER2 AU NM_002002 exon2 c.966-102A>C 0.414337 0.3423 Uncertain 19_7754964_T->C 19 7754964 7754964 T C snp 602.77 0/1 99 65 37 28 0.43 intronic rs4996977 FCER2 AU NM_002002 exon2 c.966-80T>C 0.414137 0.3413 Uncertain 19_7754968_A->G 19 7754968 7754968 A G snp 600.77 0/1 99 65 38 27 0.42 intronic rs4996976 FCER2 AU NM_002002 exon2 c.966-76A>G 0.414137 0.3413 Uncertain 19_7754971_C->T 19 7754971 7754971 C T snp 583.77 0/1 99 66 38 28 0.42 intronic rs4996975 FCER2 AU NM_002002 exon2 c.966-73C>T 0.414137 0.3413 Uncertain 19_7755056_G->A 19 7755056 7755056 G A snp 851.77 0/1 99 72 37 35 0.49 exonic rs2228138 FCER2 AU synonymous SNV NM_002002 exon10 c.C717T p.H239H 0.398363 0.3403 0.372443 0.3087 0.3636 Uncertain 19_7755159_A->G 19 7755159 7755159 A G snp 951.77 0/1 99 84 47 37 0.44 intronic rs4996973 FCER2 AU NM_002002 exon2 c.1073+8A>G 0.398962 0.3403 0.369502 0.3085 0.3634 Uncertain 19_7755213_C->T 19 7755213 7755213 C T snp 1173.77 0/1 99 108 65 43 0.4 intronic rs4996972 FCER2 AU NM_002002 exon2 c.1073+62C>T 0.398363 0.3403 Uncertain 19_7755285_A->G 19 7755285 7755285 A G snp 1901.77 0/1 99 164 87 77 0.47 intronic rs28364072 FCER2 AU NM_002002 exon3 c.1213-6A>G 0.397764 0.3413 0.369368 0.3043 0.3644 Uncertain 19_7755469_T->C 19 7755469 7755469 T C snp 1261.77 0/1 99 83 37 46 0.55 intronic rs2277995 FCER2 AU NM_002002 exon3 c.1365+26T>C 0.388978 0.3403 0.342587 0.3072 0.3622 Uncertain 19_7755472_G->T 19 7755472 7755472 G T snp 1095.77 0/1 99 79 37 42 0.53 intronic rs74927160 FCER2 AU NM_002002 exon3 c.1365+29G>T 0.389776 0.3403 0.3036 0.3559 Uncertain 19_7755478_T->C 19 7755478 7755478 T C snp 1019.77 0/1 99 69 32 37 0.54 intronic rs75584211 FCER2 AU NM_002002 exon3 c.1365+35T>C 0.389776 0.3403 0.3036 0.3546 Uncertain 19_7755479_G->A 19 7755479 7755479 G A snp 969.77 0/1 99 69 31 38 0.55 intronic rs78283814 FCER2 AU NM_002002 exon3 c.1365+36G>A 0.389776 0.3403 0.3029 0.3546 Uncertain 19_7755482_A->G 19 7755482 7755482 A G snp 1002.77 0/1 99 69 32 37 0.54 intronic rs77121754 FCER2 AU NM_002002 exon3 c.1365+39A>G 0.389776 0.3403 0.3019 0.3549 Uncertain 19_7755485_G->A 19 7755485 7755485 G A snp 968.77 0/1 99 64 27 37 0.58 intronic rs76013233 FCER2 AU NM_002002 exon3 c.1365+42G>A 0.389776 0.3403 0.286002 0.2993 0.3502 Uncertain 19_7755486_C->T 19 7755486 7755486 C T snp 960.77 0/1 99 62 25 37 0.6 intronic rs201782305 FCER2 AU NM_002002 exon3 c.1365+43C>T 0.161142 0.256 0.1378 0.2733 Uncertain 19_7755518_A->G 19 7755518 7755518 A G snp 622.77 0/1 99 37 16 21 0.57 intronic rs2277994 FCER2 AU NM_002002 exon3 c.1365+75A>G 0.389776 0.3403 Uncertain 19_7755571_G->A 19 7755571 7755571 G A snp 86.78 0/1 24 4 1 3 0.75 intronic rs2277993 FCER2 AU NM_002002 exon3 c.1365+128G>A 0.389776 0.3403 Uncertain 19_7761456_G->A 19 7761456 7761456 G A snp 86.77 0/1 30 4 1 3 0.75 intronic rs12984649 FCER2 AU NM_002002 exon4 c.7632-254G>A 0.159944 0.244 Uncertain 19_7761812_A->G 19 7761812 7761812 A G snp 1023.77 0/1 99 100 61 39 0.39 intronic rs2277989 FCER2 AU NM_002002 exon4 c.7722+12A>G 0.607628 0.4395 0.601739 0.5921 0.4864 Uncertain 19_7763703_A->G 19 7763703 7763703 A G snp 1488.77 1/1 99 58 0 58 1.0 exonic rs2287866 FCER2 AU synonymous SNV NM_002002 exon3 c.T60C p.R20R 0.175319 0.253 0.102896 0.1319 0.2719 Uncertain 19_7764157_A->G 19 7764157 7764157 A G snp 639.77 0/1 99 39 15 24 0.62 intronic rs12984870 FCER2 AU NM_001207019 exon10 c.10184-105A>G 0.515176 0.4623 Uncertain 19_7764364_TTTTT->- 19 7764364 7764368 TTTTT - indel 1687.73 1/1 87 39 0 39 1.0 intronic rs61499635 FCER2 AU NM_001207019 exon10 c.10287-1_10287+3delTTTTT 0.743411 0.9097 Uncertain 19_7764436_G->T 19 7764436 7764436 G T snp 301.78 1/1 24 9 0 9 1.0 intronic rs12980031 FCER2 AU NM_001207019 exon10 c.10287+71G>T 0.728235 0.8929 Uncertain 19_7764545_-->C 19 7764545 7764545 - C indel 1273.73 1/1 99 35 0 35 1.0 intronic rs3214456 FCER2 AU NM_002002 exon10 c.10546-79insC 0.693091 0.8631 0.612141 Uncertain 19_7764741_G->A 19 7764741 7764741 G A snp 1352.77 1/1 96 47 0 47 1.0 intronic rs2287867 FCER2 AU NM_002002 exon10 c.10653+10G>A 0.527356 0.6498 Uncertain 19_7764772_T->C 19 7764772 7764772 T C snp 1028.77 1/1 75 33 0 33 1.0 intronic rs2287868 FCER2 AU NM_002002 exon10 c.10653+41T>C 0.553514 0.6498 Uncertain 19_7794605_T->C 19 7794605 7794605 T C snp 3892.77 1/1 99 133 0 133 1.0 intronic rs2277997 CLEC4G AU NM_001244856 exon2 c.455-101T>C 0.809904 0.6766 Uncertain 19_7795813_G->A 19 7795813 7795813 G A snp 210.84 1/1 18 8 0 8 1.0 intronic rs6603117 CLEC4G AU NM_001244856 exon5 c.1494+68G>A 0.868411 0.6766 Uncertain 19_7796497_C->G 19 7796497 7796497 C G snp 3848.77 1/1 99 142 0 142 1.0 intronic rs11260026 CLEC4G AU NM_001244856 exon8 c.2295-49C>G 0.871206 0.6776 0.948324 0.9344 0.7023 Uncertain 19_7830662_A->G 19 7830662 7830662 A G snp 1190.77 0/1 99 134 80 54 0.4 exonic rs113080783 CLEC4M AU nonsynonymous SNV NM_014257 exon4 c.A353G p.Q118R 0.013385 0.0005 0.0001 0.2 T 1 N -0.999 T 0.452 T 0.465 P Pathogenic 19_7830685_T->C 19 7830685 7830685 T C snp 612.77 0/1 99 84 52 32 0.38 exonic rs751939355 CLEC4M AU synonymous SNV NM_014257 exon4 c.T376C p.L126L 6.651e-05 0 Uncertain 19_7830687_G->C 19 7830687 7830687 G C snp 552.77 0/1 99 79 53 26 0.33 exonic CLEC4M AU nonsynonymous SNV NM_014257 exon4 c.G378C p.L126F 0 D 1 N -0.995 T 1.0 D 0.999 D Pathogenic 19_7830688_C->T 19 7830688 7830688 C T snp 501.77 0/1 99 79 51 28 0.35 exonic CLEC4M AU nonsynonymous SNV NM_014257 exon4 c.C379T p.P127S 0.45 T 1 N -1.020 T 1.0 D 0.999 D Pathogenic 19_7830936_G->C 19 7830936 7830936 G C snp 97.77 0/1 99 34 27 7 0.21 exonic rs59003279 CLEC4M AU synonymous SNV NM_014257 exon4 c.G627C p.T209T 0.0217652 0.0109 Uncertain 19_7830937_G->C 19 7830937 7830937 G C snp 119.77 0/1 99 34 26 8 0.24 exonic rs59002457 CLEC4M AU nonsynonymous SNV NM_014257 exon4 c.G628C p.E210Q 0.0213658 0.0109 1 T 1 N -0.955 T 0.001 T 0.026 T Pathogenic 19_7830938_A->G 19 7830938 7830938 A G snp 152.77 0/1 99 36 27 9 0.25 exonic rs145645281 CLEC4M AU nonsynonymous SNV NM_014257 exon4 c.A629G p.E210G 0.0213658 0.0109 0.12 T 1 N -0.907 T 0.144 T 0.379 T Pathogenic 19_7831166_A->G 19 7831166 7831166 A G snp 719.77 0/1 99 36 11 25 0.69 intronic rs868875 CLEC4M AU NM_001144910 exon5 c.2941+73A>G 0.208067 0.1915 0.245050 0.2869 0.2023 Uncertain 19_7831226_A->T 19 7831226 7831226 A T snp 231.77 0/1 99 12 5 7 0.58 intronic rs868876 CLEC4M AU NM_001144910 exon5 c.2941+133A>T 0.200479 0.1895 Uncertain 19_7831429_C->G 19 7831429 7831429 C G snp 388.77 0/1 99 32 19 13 0.41 intronic rs475896 CLEC4M AU NM_001144910 exon6 c.3389-112C>G 0.293131 0.1419 Uncertain 19_7831628_G->A 19 7831628 7831628 G A snp 2585.77 0/1 99 243 138 105 0.43 exonic rs2277998 CLEC4M AU nonsynonymous SNV NM_014257 exon5 c.G871A p.D291N 0.177117 0.1389 0.231124 0.2651 0.1579 0.16 T 0.0 P -1.013 T 0.1 T 0.027 T ID=CM078342;DIS=HIV infection, susceptibility to, association;TAG=DFP;PUB=17530994 DFP Pathogenic 19_7831700_G->C 19 7831700 7831700 G C snp 3543.77 1/1 99 116 0 116 1.0 intronic rs562607 CLEC4M AU NM_001144910 exon6 c.3541+7G>C 0.720647 0.5327 0.872136 0.7886 0.5403 Uncertain 19_7832664_T->C 19 7832664 7832664 T C snp 593.77 0/1 99 40 20 20 0.5 intronic rs2161525 CLEC4M AU NM_001144910 exon7 c.4362+150T>C 0.398762 0.3452 Uncertain 19_7911342_C->T 19 7911342 7911342 C T snp 61.77 0/1 90 8 5 3 0.38 upstream rs2307001 EVI5L AU 0.699281 0.6042 Uncertain 19_7911343_T->A 19 7911343 7911343 T A snp 81.77 0/1 99 9 5 4 0.44 upstream rs2307002 EVI5L AU 0.773163 0.7034 Uncertain 19_7913974_T->C 19 7913974 7913974 T C snp 3749.77 0/1 99 250 114 136 0.54 exonic rs555609 EVI5L AU synonymous SNV NM_001159944 exon3 c.T495C p.H165H 0.701677 0.5923 0.715516 0.7626 0.6033 Uncertain 19_7916475_T->C 19 7916475 7916475 T C snp 2329.77 0/1 99 192 100 92 0.48 intronic rs2452012 EVI5L AU NM_001159944 exon6 c.5035+12T>C 0.768171 0.7034 0.792865 0.8341 0.7001 Uncertain 19_7916620_A->G 19 7916620 7916620 A G snp 563.77 0/1 99 61 37 24 0.39 exonic rs580790 EVI5L AU synonymous SNV NM_001159944 exon7 c.A951G p.A317A 0.767772 0.7014 0.792942 0.8324 0.6979 Uncertain 19_7918103_A->G 19 7918103 7918103 A G snp 6887.77 1/1 99 233 0 233 1.0 intronic rs526464 EVI5L AU NM_001159944 exon8 c.6641+34A>G 0.898363 0.8532 0.925727 0.9657 0.8366 Uncertain 19_7926938_C->- 19 7926938 7926938 C - indel 1031.73 0/1 99 94 57 37 0.39 intronic rs3217320 EVI5L AU NM_001159944 exon14 c.15476+34delC 0.1252 0.1498 0.133025 0.1492 0.1967 Uncertain 19_7928342_G->A 19 7928342 7928342 G A snp 908.77 0/1 99 78 42 36 0.46 exonic rs535201190 EVI5L AU synonymous SNV NM_001159944 exon19 c.G2172A p.E724E 0.000199681 0.001 0 0 Uncertain 19_7928462_T->C 19 7928462 7928462 T C snp 3975.77 1/1 99 156 0 156 1.0 exonic rs10410459 EVI5L AU synonymous SNV NM_001159944 exon19 c.T2292C p.Y764Y 0.9998 0.999 1.0000 0.9997 Uncertain 19_7938306_-->G 19 7938306 7938306 - G indel 2970.73 1/1 99 76 0 76 1.0 exonic rs397747741 PRR36 AU unknown 0.999601 1 0.9999 1 Uncertain 19_7944349_C->- 19 7944349 7944349 C - indel 5933.73 1/1 99 141 0 141 1.0 ncRNA_exonic rs398033833 LYPLA2P2 AU 0.999401 1 0.9999 1 Uncertain 19_7963914_A->C 19 7963914 7963914 A C snp 7113.77 1/1 99 249 0 249 1.0 exonic rs524029 LRRC8E AU synonymous SNV NM_001268285 exon2 c.A120C p.V40V 0.992812 0.9702 0.9964 0.9537 Uncertain 19_7963949_A->G 19 7963949 7963949 A G snp 7093.77 1/1 99 242 0 242 1.0 exonic rs2042919 LRRC8E AU nonsynonymous SNV NM_001268285 exon2 c.A155G p.E52G 0.232827 0.2292 0.242692 0.2327 0.2283 0.4 T 0.0 P -0.918 T 0.731 T 0.225 P Pathogenic 19_7963976_T->C 19 7963976 7963976 T C snp 5750.77 1/1 99 189 0 189 1.0 exonic rs2115108 LRRC8E AU nonsynonymous SNV NM_001268285 exon2 c.T182C p.M61T 0.28095 0.2629 0.320784 0.2863 0.2583 0.6 T 0.0 P -0.912 T 0.0 T 0.0 T Pathogenic 19_7964481_C->T 19 7964481 7964481 C T snp 3813.77 0/1 99 249 112 137 0.55 exonic LRRC8E AU synonymous SNV NM_001268285 exon2 c.C687T p.D229D Uncertain 19_7964727_G->A 19 7964727 7964727 G A snp 6130.77 1/1 99 223 1 222 1.0 exonic rs3745382 LRRC8E AU synonymous SNV NM_001268285 exon2 c.G933A p.E311E 0.16274 0.1339 0.220889 0.2126 0.1223 Uncertain 19_7965339_C->T 19 7965339 7965339 C T snp 5961.77 1/1 99 205 0 205 1.0 exonic rs3745383 LRRC8E AU synonymous SNV NM_001268285 exon2 c.C1545T p.Y515Y 0.0748802 0.125 0.098109 0.1071 0.1134 Uncertain 19_7969486_C->T 19 7969486 7969486 C T snp 987.77 1/1 72 30 0 30 1.0 intronic rs3810211 MAP2K7 AU NM_145185 exon1 c.124+533C>T 0.160743 0.1359 Uncertain 19_7970635_A->G 19 7970635 7970635 A G snp 3019.77 1/1 99 112 0 112 1.0 intronic rs4804833 MAP2K7 AU NM_001297555 exon2 c.1863-57A>G 0.541933 0.5704 Uncertain 19_7975464_A->C 19 7975464 7975464 A C snp 6685.77 1/1 99 250 0 250 1.0 intronic rs11879199 MAP2K7 AU NM_145185 exon5 c.6628+7A>C 0.188898 0.1419 0.261775 0.2586 0.1304 Uncertain 19_7976127_C->G 19 7976127 7976127 C G snp 844.77 0/1 99 82 49 33 0.4 intronic rs56358830 MAP2K7 AU NM_145185 exon8 c.7305-7C>G 0.103235 0.1954 0.080473 0.1167 0.2443 Uncertain 19_7976529_T->C 19 7976529 7976529 T C snp 529.77 1/1 42 17 0 17 1.0 intronic rs2303700 MAP2K7 AU NM_145185 exon9 c.7634+66T>C 0.602436 0.5883 Uncertain 19_7982638_G->A 19 7982638 7982638 G A snp 278.77 0/1 99 22 10 12 0.55 exonic rs374527539 TGFBR3L AU synonymous SNV NM_001195259 exon4 c.G777A p.P259P 0.00119808 0.006 0.0013 0.0417 Uncertain 19_7986398_C->T 19 7986398 7986398 C T snp 663.77 0/1 99 53 28 25 0.47 exonic rs199650219 SNAPC2 AU nonsynonymous SNV NM_003083 exon2 c.C274T p.R92W 0.000998403 0.005 0.0006 0.0076 0.08 T 1 N -1.020 T 0.009 T 0.006 T Pathogenic 19_7986638_C->G 19 7986638 7986638 C G snp 3108.77 1/1 99 117 0 117 1.0 exonic rs475002 SNAPC2 AU nonsynonymous SNV NM_003083 exon3 c.C352G p.L118V 0.41274 0.5169 0.465241 0.4983 0.5101 0.06 T 0.000 P -0.928 T 0.992 D 0.912 D Pathogenic 19_7990134_T->G 19 7990134 7990134 T G snp 613.77 0/1 99 38 15 23 0.61 UTR3 rs112578370 CTXN1 AU 0.263778 0.4812 0.4303 0.625 Uncertain 19_7997676_G->A 19 7997676 7997676 G A snp 2530.77 0/1 99 230 114 116 0.5 intronic rs2279528 TIMM44 AU NM_006351 exon5 c.5565+40G>A 0.223642 0.4484 0.185222 0.2442 0.4691 Uncertain 19_8000104_A->G 19 8000104 8000104 A G snp 361.77 0/1 99 31 17 14 0.45 intronic rs3745387 TIMM44 AU NM_006351 exon10 c.7959+74A>G 0.421126 0.494 0.4836 0.5708 Uncertain 19_8032432_G->A 19 8032432 8032432 G A snp 221.77 0/1 99 21 12 9 0.43 intronic rs3826740 ELAVL1 AU NM_001419 exon2 c.4082-16G>A 0.22504 0.4782 0.186068 0.2711 0.5092 Uncertain 19_8122737_G->A 19 8122737 8122737 G A snp 3957.77 1/1 99 146 0 146 1.0 exonic rs2303164 CCL25 AU synonymous SNV NM_001201359 exon5 c.G375A p.S125S 0.646565 0.7679 0.624919 0.6441 0.7571 1 T 0.0 P -0.941 T 0.259 T 0.007 T Likely benign 19_8122767_T->C 19 8122767 8122767 T C snp 3983.77 1/1 99 147 0 147 1.0 exonic rs2303165 CCL25 AU synonymous SNV NM_001201359 exon5 c.T405C p.S135S 0.934704 0.8938 0.945863 0.9221 0.8917 Uncertain 19_8131240_G->A 19 8131240 8131240 G A snp 912.77 1/1 66 31 0 31 1.0 intronic rs12460243 FBN3 AU NM_032447 exon1 c.342+96G>A 0.183706 0.4435 Uncertain 19_8137102_G->T 19 8137102 8137102 G T snp 5004.77 1/1 99 191 1 190 0.99 intronic rs7256904 FBN3 AU NM_032447 exon2 c.6280+20G>T 0.633387 0.7103 0.577810 0.6190 0.7071 Uncertain 19_8137851_GTGT->- 19 8137851 8137854 GTGT - indel 1616.73 ./1 99 44 2 42 0.95 intronic FBN3 AU NM_032447 exon3 c.7144-95_7144-92delGTGT Uncertain 19_8137851_GT->- 19 8137851 8137852 GT - indel 1616.73 ./1 99 44 2 42 0.95 intronic FBN3 AU NM_032447 exon3 c.7144-95_7144-94delGT Uncertain 19_8140232_G->A 19 8140232 8140232 G A snp 1853.77 0/1 99 129 54 75 0.58 exonic rs145316149 FBN3 AU nonsynonymous SNV NM_032447 exon59 c.C7517T p.P2506L 0.000798722 0.004 0.000077 0.0004 0.0047 0.43 T 1 D 0.237 D 0.998 D 0.917 D Pathogenic 19_8151239_G->C 19 8151239 8151239 G C snp 1024.77 0/1 99 78 35 43 0.55 intronic rs8103000 FBN3 AU NM_032447 exon10 c.20407+30G>C 0.334065 0.3641 0.283328 0.3096 0.4010 Uncertain 19_8152725_A->G 19 8152725 8152725 A G snp 1305.77 0/1 99 116 62 54 0.47 exonic rs12460643 FBN3 AU synonymous SNV NM_032447 exon52 c.T6603C p.D2201D 0.669129 0.4633 0.788790 0.6849 0.5064 Uncertain 19_8154984_G->A 19 8154984 8154984 G A snp 2906.77 0/1 99 200 84 116 0.58 exonic rs56194853 FBN3 AU synonymous SNV NM_032447 exon48 c.C6183T p.S2061S 0.119609 0.2361 0.006766 0.0648 0.1876 ID=COSM1397716;OCCURENCE=1(large_intestine) Uncertain 19_8156221_A->G 19 8156221 8156221 A G snp 897.77 0/1 99 82 44 38 0.46 intronic rs12981294 FBN3 AU NM_032447 exon17 c.25546-127A>G 0.173123 0.122 Uncertain 19_8156260_C->T 19 8156260 8156260 C T snp 1331.77 0/1 99 137 77 60 0.44 intronic rs12984611 FBN3 AU NM_032447 exon17 c.25546-88C>T 0.169529 0.122 Uncertain 19_8156290_A->G 19 8156290 8156290 A G snp 1794.77 0/1 99 169 90 79 0.47 intronic rs8104453 FBN3 AU NM_032447 exon17 c.25546-58A>G 0.671126 0.4623 Uncertain 19_8156523_T->C 19 8156523 8156523 T C snp 479.77 0/1 99 33 16 17 0.52 intronic rs34758775 FBN3 AU NM_032447 exon17 c.25672+49T>C 0.169329 0.122 0.202291 0.2097 0.1382 Uncertain 19_8159362_G->T 19 8159362 8159362 G T snp 1575.77 0/1 99 134 65 69 0.51 exonic rs7245429 FBN3 AU nonsynonymous SNV NM_032447 exon46 c.C5873A p.P1958H 0.485823 0.7331 0.335691 0.4553 0.7166 0.22 T 1.000 P -0.891 T 0.958 D 0.641 D Pathogenic 19_8159409_G->T 19 8159409 8159409 G T snp 2622.77 1/1 99 87 0 87 1.0 exonic rs7245552 FBN3 AU synonymous SNV NM_032447 exon46 c.C5826A p.P1942P 0.686102 0.9018 0.560357 0.6732 0.8932 0.15 T 1.0 P -1.061 T Likely benign 19_8160334_G->A 19 8160334 8160334 G A snp 2004.77 0/1 99 187 100 87 0.47 exonic rs12608849 FBN3 AU nonsynonymous SNV NM_032447 exon45 c.C5710T p.L1904F 0.309505 0.4881 0.198831 0.3020 0.4559 0.32 T 0.094 P -0.988 T 0.059 T 0.045 T Pathogenic 19_8160517_A->G 19 8160517 8160517 A G snp 1419.77 1/1 99 43 0 43 1.0 intronic rs10413994 FBN3 AU NM_032447 exon19 c.29585+130A>G 0.946286 0.9722 Uncertain 19_8160812_C->T 19 8160812 8160812 C T snp 2266.77 1/1 99 83 0 83 1.0 intronic rs10404258 FBN3 AU NM_032447 exon20 c.30045-35C>T 0.719848 0.9018 0.587729 0.6968 0.8971 Uncertain 19_8161126_A->G 19 8161126 8161126 A G snp 351.78 1/1 27 9 0 9 1.0 intronic rs12151307 FBN3 AU NM_032447 exon20 c.30162+162A>G 0.92472 0.9722 Uncertain 19_8161450_C->T 19 8161450 8161450 C T snp 940.77 0/1 99 83 49 34 0.41 exonic rs3829817 FBN3 AU nonsynonymous SNV NM_032447 exon43 c.G5417A p.R1806Q 0.183706 0.1687 0.201830 0.2144 0.1768 0.33 T 0.999 P -1.089 T 0.017 T 0.009 T Pathogenic 19_8165868_G->A 19 8165868 8165868 G A snp 669.77 0/1 99 70 38 32 0.46 intronic rs56182050 FBN3 AU NM_032447 exon24 c.35054+12G>A 0.316693 0.5179 0.197986 0.3005 0.4847 Uncertain 19_8167830_A->G 19 8167830 8167830 A G snp 1523.77 1/1 99 52 0 52 1.0 intronic rs12986396 FBN3 AU NM_032447 exon25 c.36955+73A>G 0.660144 0.7272 Uncertain 19_8167873_A->G 19 8167873 8167873 A G snp 430.77 0/1 99 30 12 18 0.6 intronic rs56921504 FBN3 AU NM_032447 exon25 c.36955+116A>G 0.330272 0.5179 Uncertain 19_8168326_G->A 19 8168326 8168326 G A snp 141.03 1/1 12 5 0 5 1.0 intronic rs3865463 FBN3 AU NM_032447 exon26 c.37643-119G>A 0.666933 0.7272 Uncertain 19_8168340_T->A 19 8168340 8168340 T A snp 38.77 0/1 67 6 4 2 0.33 intronic rs3865464 FBN3 AU NM_032447 exon26 c.37643-105T>A 0.103834 0.1617 Uncertain 19_8168399_G->A 19 8168399 8168399 G A snp 374.77 0/1 99 28 13 15 0.54 intronic rs4289098 FBN3 AU NM_032447 exon26 c.37643-46G>A 0.334265 0.2093 0.489159 0.4911 0.2307 Uncertain 19_8171252_A->G 19 8171252 8171252 A G snp 1016.77 1/1 75 31 0 31 1.0 intronic rs2126971 FBN3 AU NM_032447 exon27 c.40315+135A>G 0.989217 0.9742 Uncertain 19_8174650_A->G 19 8174650 8174650 A G snp 824.77 0/1 99 69 36 33 0.48 intronic rs3813779 FBN3 AU NM_032447 exon30 c.43835+13A>G 0.557308 0.7659 0.439566 0.5482 0.7519 Uncertain 19_8174724_C->T 19 8174724 8174724 C T snp 229.77 0/1 99 13 5 8 0.62 intronic rs11672038 FBN3 AU NM_032447 exon30 c.43835+87C>T 0.426518 0.5139 Uncertain 19_8175595_C->T 19 8175595 8175595 C T snp 208.77 0/1 99 16 9 7 0.44 intronic rs12981571 FBN3 AU NM_032447 exon31 c.44926-133C>T 0.122204 0.1617 Uncertain 19_8176009_C->T 19 8176009 8176009 C T snp 3080.77 0/1 99 250 122 128 0.51 exonic rs17160196 FBN3 AU synonymous SNV NM_032447 exon32 c.G4143A p.A1381A 0.0992412 0.128 0.102491 0.1059 0.1331 Uncertain 19_8176463_A->G 19 8176463 8176463 A G snp 1525.77 0/1 99 128 61 67 0.52 intronic rs11260057 FBN3 AU NM_032447 exon33 c.45729-68A>G 0.866014 0.8502 Uncertain 19_8176569_G->A 19 8176569 8176569 G A snp 1731.77 0/1 99 146 79 67 0.46 exonic rs35306870 FBN3 AU synonymous SNV NM_032447 exon31 c.C4047T p.C1349C 0.256989 0.4226 0.217823 0.2492 0.4433 Uncertain 19_8176640_C->T 19 8176640 8176640 C T snp 984.77 0/1 99 77 35 42 0.55 exonic rs12975322 FBN3 AU nonsynonymous SNV NM_032447 exon31 c.G3976A p.V1326I 0.282748 0.4206 0.246502 0.2565 0.4435 0.19 T 0.0 P -0.977 T 0.557 P 0.102 P Pathogenic 19_8176919_C->T 19 8176919 8176919 C T snp 2215.77 1/1 99 80 0 80 1.0 exonic rs4804264 FBN3 AU synonymous SNV NM_032447 exon30 c.G3903A p.P1301P 0.689297 0.7847 0.564047 0.6180 0.7980 Uncertain 19_8176945_T->C 19 8176945 8176945 T C snp 1305.77 0/1 99 94 32 62 0.66 exonic rs4804063 FBN3 AU nonsynonymous SNV NM_032447 exon30 c.A3877G p.S1293G 0.307708 0.369 0.206059 0.2520 0.3528 0.38 T 0.0 P -1.066 T 0.001 T 0.001 T Pathogenic 19_8181483_C->T 19 8181483 8181483 C T snp 1166.77 0/1 99 118 68 50 0.42 intronic rs1038081 FBN3 AU NM_032447 exon36 c.50755-74C>T 0.379992 0.3562 Uncertain 19_8186281_-->G 19 8186281 8186281 - G indel 898.73 0/1 99 82 36 46 0.56 intronic rs397770725 FBN3 AU NM_032447 exon40 c.55468+11insG 0.449081 0.379 0.377677 0.3813 0.3832 Uncertain 19_8188250_G->A 19 8188250 8188250 G A snp 101.77 0/1 99 17 13 4 0.24 intronic rs10419582 FBN3 AU NM_032447 exon41 c.57545-97G>A 0.459864 0.379 Uncertain 19_8188935_G->A 19 8188935 8188935 G A snp 957.77 0/1 99 83 45 38 0.46 intronic rs4804064 FBN3 AU NM_032447 exon42 c.58090+43G>A 0.385783 0.379 0.322873 0.3590 0.4028 Uncertain 19_8188999_T->A 19 8188999 8188999 T A snp 137.77 0/1 99 18 12 6 0.33 intronic rs4804269 FBN3 AU NM_032447 exon42 c.58090+107T>A 0.378794 0.379 Uncertain 19_8190568_A->C 19 8190568 8190568 A C snp 30.77 0/1 31 3 1 2 0.67 intronic rs62126087 FBN3 AU NM_032447 exon43 c.59973-207A>C 0.391973 0.379 Uncertain 19_8190750_T->C 19 8190750 8190750 T C snp 1068.77 0/1 99 90 45 45 0.5 intronic rs35988441 FBN3 AU NM_032447 exon43 c.59973-25T>C 0.1877 0.3234 0.146263 0.1837 0.3414 Uncertain 19_8191184_C->T 19 8191184 8191184 C T snp 930.77 0/1 99 65 29 36 0.55 exonic rs35025963 FBN3 AU nonsynonymous SNV NM_032447 exon20 c.G2602A p.D868N 0.299521 0.379 0.226053 0.3457 0.3777 0.26 T 0.006 P -1.071 T 0.117 T 0.017 T Pathogenic 19_8191238_C->T 19 8191238 8191238 C T snp 2853.77 1/1 99 104 0 104 1.0 intronic rs10906993 FBN3 AU NM_032447 exon44 c.60429+7C>T 0.991214 0.9772 0.998845 0.9934 0.9803 Uncertain 19_8191248_A->G 19 8191248 8191248 A G snp 2861.77 1/1 99 105 0 105 1.0 intronic rs10906994 FBN3 AU NM_032447 exon44 c.60429+17A>G 0.985823 0.9613 0.997225 0.9891 0.9615 Uncertain 19_8191323_T->C 19 8191323 8191323 T C snp 3257.77 1/1 99 123 0 123 1.0 intronic rs7260558 FBN3 AU NM_032447 exon45 c.60549-28T>C 0.990216 0.9772 0.997765 0.9936 0.9806 Uncertain 19_8194363_T->G 19 8194363 8194363 T G snp 592.77 1/1 45 15 0 15 1.0 intronic rs4804270 FBN3 AU NM_032447 exon48 c.63447+114T>G 0.971645 0.9772 Uncertain 19_8196073_G->A 19 8196073 8196073 G A snp 276.77 0/1 99 23 9 14 0.61 intronic rs67775982 FBN3 AU NM_032447 exon49 c.65316-45G>A 0.235823 0.378 0.130943 0.2325 0.3722 Uncertain 19_8196222_T->C 19 8196222 8196222 T C snp 800.77 0/1 99 83 44 39 0.47 intronic rs3813777 FBN3 AU NM_032447 exon49 c.65370+50T>C 0.252995 0.378 0.150853 0.2455 0.3829 Uncertain 19_8196444_C->T 19 8196444 8196444 C T snp 2526.77 1/1 99 90 0 90 1.0 exonic rs4804271 FBN3 AU nonsynonymous SNV NM_032447 exon14 c.G1984A p.D662N 0.988019 0.9772 0.995387 0.9936 0.9803 1 T 0.000 P -0.942 T 0.0 T 0.0 T Pathogenic 19_8197782_G->A 19 8197782 8197782 G A snp 105.77 0/1 99 9 5 4 0.44 intronic rs66925881 FBN3 AU NM_032447 exon51 c.67065-85G>A 0.238618 0.379 Uncertain 19_8198103_G->C 19 8198103 8198103 G C snp 710.77 0/1 99 38 15 23 0.61 intronic rs12975055 FBN3 AU NM_032447 exon51 c.67188+113G>C 0.110024 0.127 Uncertain 19_8201051_T->C 19 8201051 8201051 T C snp 7602.77 1/1 99 249 4 245 0.98 intronic rs8112525 FBN3 AU NM_032447 exon53 c.70271-22T>C 0.900759 0.7599 0.933174 0.9116 0.7483 Uncertain 19_8201249_C->A 19 8201249 8201249 C A snp 1578.77 0/1 99 120 57 63 0.53 intronic rs9749144 FBN3 AU NM_032447 exon54 c.70469-22C>A 0.325479 0.4425 0.215549 0.2710 0.4352 Uncertain 19_8202944_G->C 19 8202944 8202944 G C snp 594.77 1/1 45 18 0 18 1.0 intronic rs1531547 FBN3 AU NM_032447 exon55 c.72222-80G>C 0.89976 0.7599 Uncertain 19_8203328_G->A 19 8203328 8203328 G A snp 1070.77 0/1 99 122 74 48 0.39 exonic rs7246376 FBN3 AU nonsynonymous SNV NM_032447 exon8 c.C986T p.P329L 0.327276 0.4712 0.207583 0.2662 0.4703 0.3 T 0.0 P -1.028 T 0.031 T 0.011 T Pathogenic 19_8206748_G->A 19 8206748 8206748 G A snp 2481.77 0/1 99 249 137 112 0.45 intronic rs12162233 FBN3 AU NM_032447 exon57 c.75924+22G>A 0.592851 0.4881 0.530678 0.5229 0.4955 Uncertain 19_8207070_G->A 19 8207070 8207070 G A snp 1481.77 0/1 99 158 94 64 0.41 intronic rs12162237 FBN3 AU NM_032447 exon58 c.76219+49G>A 0.592851 0.4891 0.528999 0.5435 0.5234 Uncertain 19_8209926_T->C 19 8209926 8209926 T C snp 119.77 0/1 99 16 11 5 0.31 intronic rs899208 FBN3 AU NM_032447 exon59 c.79054+70T>C 0.627396 0.497 Uncertain 19_8209981_A->G 19 8209981 8209981 A G snp 35.77 0/1 64 6 4 2 0.33 intronic rs2008549 FBN3 AU NM_032447 exon59 c.79054+125A>G 0.626997 0.497 Uncertain 19_8212263_G->A 19 8212263 8212263 G A snp 1017.77 0/1 99 88 42 46 0.52 exonic rs11878432 FBN3 AU synonymous SNV NM_032447 exon1 c.C102T p.D34D 0.211262 0.2163 0.279960 0.3743 0.2871 Uncertain 19_8315847_A->G 19 8315847 8315847 A G snp 434.77 0/1 99 27 13 14 0.52 intronic rs379983 CERS4 AU 0.779153 0.7996 Uncertain 19_8319455_C->T 19 8319455 8319455 C T snp 668.77 0/1 99 62 38 24 0.39 exonic rs11881630 CERS4 AU synonymous SNV NM_024552 exon4 c.C246T p.A82A 0.102037 0.127 0.071429 0.0566 0.1630 Uncertain 19_8320555_G->A 19 8320555 8320555 G A snp 502.77 0/1 99 53 31 22 0.42 exonic rs17159388 CERS4 AU nonsynonymous SNV NM_024552 exon5 c.G356A p.R119Q 0.102636 0.129 0.069825 0.0517 0.1562 0.05 T 1.000 P -1.055 T 0.985 D 0.604 D Pathogenic 19_8321937_C->T 19 8321937 8321937 C T snp 1206.77 0/1 99 90 43 47 0.52 exonic rs1127912 CERS4 AU synonymous SNV NM_024552 exon9 c.C717T p.H239H 0.228035 0.1964 0.232201 0.2125 0.2101 Uncertain 19_8322060_T->C 19 8322060 8322060 T C snp 43.77 0/1 66 4 2 2 0.5 intronic rs59141216 CERS4 AU NM_024552 exon9 c.6001+99T>C 0.179113 0.1796 Uncertain 19_8322594_G->A 19 8322594 8322594 G A snp 192.77 0/1 99 25 17 8 0.32 intronic rs36250 CERS4 AU NM_024552 exon10 c.6802-168G>A 0.546526 0.5258 Uncertain 19_8326904_G->A 19 8326904 8326904 G A snp 1579.77 0/1 99 138 70 68 0.49 exonic rs36259 CERS4 AU nonsynonymous SNV NM_024552 exon12 c.G1096A p.A366T 0.752995 0.7986 0.739421 0.7499 0.8040 0.66 T 0.0 P -0.986 T 0.012 T 0.01 T Pathogenic 19_8367033_T->C 19 8367033 8367033 T C snp 436.77 1/1 33 12 0 12 1.0 UTR3 rs250510 CD320 AU 0.927716 0.8958 0.9684 0.88 Uncertain 19_8370120_T->C 19 8370120 8370120 T C snp 531.77 0/1 99 33 12 21 0.64 intronic rs2232778 CD320 AU NM_016579 exon4 c.2694+80T>C 0.697883 0.5546 Uncertain 19_8376431_G->A 19 8376431 8376431 G A snp 605.77 0/1 99 50 24 26 0.52 exonic rs561 NDUFA7 AU synonymous SNV NM_005001 exon4 c.C300T p.P100P 0.138179 0.2083 0.145893 0.1750 0.2136 Uncertain 19_8381435_G->C 19 8381435 8381435 G C snp 1619.77 0/1 99 153 78 75 0.49 exonic rs2288415 NDUFA7 AU nonsynonymous SNV NM_005001 exon3 c.C196G p.P66A 0.0135783 0.0625 0.0055 0.0708 0.1 T 1.000 D -1.100 T 0.604 T 0.212 P Pathogenic 19_8386688_C->G 19 8386688 8386688 C G snp 2302.77 0/1 99 221 115 106 0.48 intronic rs17160415 RPS28 AD NM_001031 exon2 c.173+101C>G 0.00239617 0.0119 0.0012 0.0248 Uncertain 19_8386998_T->C 19 8386998 8386998 T C snp 1177.77 0/1 99 114 65 49 0.43 intronic rs4147644 RPS28 AD NM_001031 exon3 c.561+23T>C 0.267173 0.2867 0.242232 0.2442 0.3064 Uncertain 19_8387207_G->A 19 8387207 8387207 G A snp 355.77 0/1 99 35 20 15 0.43 UTR3 rs1057232 RPS28 AD 0.582468 0.4474 0.5416 0.4773 Uncertain 19_8389164_C->T 19 8389164 8389164 C T snp 56.74 1/1 6 2 0 2 1.0 intronic rs10416635 KANK3 AU NM_198471 exon2 c.1610-168C>T 0.317492 0.2927 Uncertain 19_8389769_TCACAGGTTGAC->- 19 8389769 8389780 TCACAGGTTGAC - indel 12251.7 0/1 99 197 105 92 0.47 intronic rs111756439 KANK3 AU NM_198471 exon3 c.1992+55_2112-54delTCACAGGTTGAC 0.268171 0.2887 Uncertain 19_8397856_A->C 19 8397856 8397856 A C snp 35.77 0/1 64 18 12 6 0.33 intronic KANK3 AU NM_198471 exon5 c.10175-41A>C Uncertain 19_8398714_A->G 19 8398714 8398714 A G snp 404.77 0/1 99 70 50 20 0.29 intronic rs2009733 KANK3 AU NM_198471 exon6 c.10970+22A>G 0.472644 0.3829 0.456715 0.4833 0.4415 Uncertain 19_8398950_TCGCTGTCGCCA->- 19 8398950 8398961 TCGCTGTCGCCA - indel 1754.73 0/1 99 33 18 15 0.45 exonic rs111751275 KANK3 AU nonframeshift deletion NM_198471 exon5 c.1467_1478del p.489_493del 0.351438 0.2927 0.220795 0.3387 0.3244 ID=COSM296007;OCCURENCE=1(haematopoietic_and_lymphoid_tissue),1(endometrium),1(large_intestine),1(breast) Uncertain 19_8399628_A->G 19 8399628 8399628 A G snp 67.77 0/1 96 12 8 4 0.33 exonic rs710949 KANK3 AU synonymous SNV NM_198471 exon3 c.T1083C p.S361S 0.602436 0.4147 0.723609 0.5860 0.4571 Uncertain 19_8399635_C->T 19 8399635 8399635 C T snp 58.77 0/1 87 12 9 3 0.25 exonic rs890853 KANK3 AU nonsynonymous SNV NM_198471 exon3 c.G1076A p.R359H 0.192093 0.2113 0.1680 0.2206 0.06 T 0.000 P -0.987 T 0.017 T 0.004 T Pathogenic 19_8429680_G->A 19 8429680 8429680 G A snp 35.77 0/1 64 6 4 2 0.33 intronic rs12609364 ANGPTL4 AD NM_139314 exon1 c.318+157G>A 0.204073 0.2827 Uncertain 19_8454236_A->G 19 8454236 8454236 A G snp 182.9 1/1 15 6 0 6 1.0 ncRNA_exonic rs72996752 MIR4999 AU 0.204473 0.2837 0 . Uncertain 19_8464653_G->A 19 8464653 8464653 G A snp 663.77 0/1 99 39 18 21 0.54 intronic rs2913970 RAB11B AU NM_004218 exon2 c.9446-93G>A 0.206869 0.2927 Uncertain 19_8466792_G->A 19 8466792 8466792 G A snp 44.74 1/1 6 2 0 2 1.0 intronic rs11670119 RAB11B AU NM_004218 exon3 c.11669-177G>A 0.359026 0.5873 Uncertain 19_8467235_T->C 19 8467235 8467235 T C snp 412.77 0/1 99 31 17 14 0.45 intronic rs2913968 RAB11B AU NM_004218 exon3 c.11863+72T>C 0.359425 0.5873 Uncertain 19_8467574_T->G 19 8467574 8467574 T G snp 96.28 1/1 9 3 0 3 1.0 intronic rs8107834 RAB11B AU NM_004218 exon4 c.12149+125T>G 0.959465 1 Uncertain 19_8468337_C->T 19 8468337 8468337 C T snp 3143.77 0/1 99 249 125 124 0.5 exonic rs2230876 RAB11B AU synonymous SNV NM_004218 exon5 c.C552T p.R184R 0.330072 0.5188 0.274642 0.2898 0.5221 Uncertain 19_8468485_C->T 19 8468485 8468485 C T snp 823.77 0/1 99 56 21 35 0.63 UTR3 rs2241588 RAB11B AU 0.249201 0.5754 0.128099 0.1972 0.5862 Uncertain 19_8495765_G->A 19 8495765 8495765 G A snp 550.77 0/1 99 63 38 25 0.4 intronic rs2303180 MARCH2 AU NM_016496 exon5 c.9027+14G>A 0.288339 0.1736 0.275123 0.3452 0.1947 Uncertain 19_8503574_A->G 19 8503574 8503574 A G snp 626.77 1/1 48 20 0 20 1.0 UTR3 rs11259981 MARCH2 AU 0.854832 0.9812 Uncertain 19_8510144_T->C 19 8510144 8510144 T C snp 96.28 1/1 9 3 0 3 1.0 intronic rs11881939 HNRNPM AU NM_005968 exon1 c.113+149T>C 0.86881 0.9812 Uncertain 19_8528277_A->G 19 8528277 8528277 A G snp 514.77 0/1 99 30 14 16 0.53 intronic rs3764570 HNRNPM AU NM_005968 exon4 c.18498-103A>G 0.243411 0.505 Uncertain 19_8528310_A->G 19 8528310 8528310 A G snp 2281.77 1/1 99 73 0 73 1.0 intronic rs8102587 HNRNPM AU NM_005968 exon4 c.18498-70A>G 0.86861 0.9812 0.862024 Uncertain 19_8533504_T->C 19 8533504 8533504 T C snp 1245.77 1/1 90 38 0 38 1.0 intronic rs7258281 HNRNPM AU NM_005968 exon9 c.23775-153T>C 0.867612 0.9812 Uncertain 19_8533509_C->T 19 8533509 8533509 C T snp 613.77 0/1 99 47 26 21 0.45 intronic rs59319088 HNRNPM AU NM_005968 exon9 c.23775-148C>T 0.338858 0.4048 Uncertain 19_8536373_A->G 19 8536373 8536373 A G snp 922.77 1/1 66 35 0 35 1.0 intronic rs12973706 HNRNPM AU NM_005968 exon10 c.26429+62A>G 0.940695 1 Uncertain 19_8548175_A->C 19 8548175 8548175 A C snp 1008.77 0/1 99 81 39 42 0.52 intronic rs1599871 HNRNPM AU NM_005968 exon13 c.38213+80A>C 0.521765 0.4752 Uncertain 19_8551094_T->C 19 8551094 8551094 T C snp 7140.77 1/1 99 250 0 250 1.0 exonic rs2230647 HNRNPM AU synonymous SNV NM_001297418 exon12 c.T1377C p.P459P 0.867612 0.9812 0.854819 0.9450 0.9871 Uncertain 19_8551852_A->G 19 8551852 8551852 A G snp 2647.77 1/1 99 90 0 90 1.0 intronic rs11669139 HNRNPM AU NM_005968 exon15 c.42025-55A>G 0.882788 0.9812 0.880640 Uncertain 19_8553400_G->A 19 8553400 8553400 G A snp 95.77 0/1 99 10 6 4 0.4 intronic rs1599870 HNRNPM AU NM_005968 exon16 c.43692-174G>A 0.252396 0.506 Uncertain 19_8553630_C->T 19 8553630 8553630 C T snp 2350.77 1/1 99 87 0 87 1.0 exonic rs6992 HNRNPM AU synonymous SNV NM_001297418 exon14 c.C1680T p.G560G 0.875998 0.9802 0.865139 0.9414 0.9871 Uncertain 19_8555886_G->C 19 8555886 8555886 G C snp 3126.77 0/1 99 249 128 121 0.49 intronic rs2303110 PRAM1 AU NM_032152 exon5 c.807+7G>C 0.6873 0.4772 0.732430 0.7265 0.4799 Uncertain 19_8563456_C->G 19 8563456 8563456 C G snp 1810.77 1/1 99 61 0 61 1.0 exonic rs2910435 PRAM1 AU synonymous SNV NM_032152 exon2 c.G1236C p.A412A 0.998403 1 0.994490 0.9951 1 Uncertain 19_8576307_A->G 19 8576307 8576307 A G snp 185.77 0/1 99 21 10 11 0.52 UTR3 rs2910443 ZNF414 AU 0.633786 0.7103 0.587685 0.5368 0.7257 Uncertain 19_8576888_C->G 19 8576888 8576888 C G snp 100.77 0/1 99 21 15 6 0.29 intronic rs2042302 ZNF414 AU NM_001146175 exon4 c.1270+44C>G 0.635783 0.7093 0.601367 0.5736 0.7072 Uncertain 19_8578035_T->C 19 8578035 8578035 T C snp 638.77 0/1 99 45 21 24 0.53 exonic rs8100431 ZNF414 AU nonsynonymous SNV NM_001146175 exon2 c.A194G p.Q65R 0.308307 0.5357 0.231797 0.3478 0.5848 0.02 T 0.0 P -0.912 T 0.981 D 0.969 D Pathogenic 19_8579081_C->T 19 8579081 8579081 C T snp 479.77 0/1 99 30 10 20 0.67 upstream rs2287862 ZNF414 AU 0.286741 0.5347 Uncertain 19_8587782_T->C 19 8587782 8587782 T C snp 56.74 1/1 6 2 0 2 1.0 intronic rs10408143 MYO1F AU NM_012335 exon3 c.1302+69T>C 0.470447 0.6359 Uncertain 19_8642160_T->C 19 8642160 8642160 T C snp 2066.77 0/1 99 162 76 86 0.53 intronic MYO1F AU NM_012335 exon28 c.55779-30T>C 0.58766 0.7401 0.483322 0.5272 0.7553 Uncertain 19_8642401_A->G 19 8642401 8642401 A G snp 53.77 0/1 82 15 9 6 0.4 upstream MYO1F AU Uncertain 19_8645786_A->C 19 8645786 8645786 A C snp 2677.77 1/1 99 99 0 99 1.0 exonic ADAMTS10 AR nonsynonymous SNV NM_030957 exon26 c.T3303G p.H1101Q 0.9998 1 0.999846 0.9999 0.9999 1 T 0.000 P -0.958 T 0.001 T 0.004 T Pathogenic 19_8649879_C->T 19 8649879 8649879 C T snp 724.77 0/1 99 71 42 29 0.41 exonic ADAMTS10 AR synonymous SNV NM_030957 exon25 c.G3102A p.T1034T 0.0379393 0.0139 0.0045 0 ID=COSM3693251;OCCURENCE=1(large_intestine) Uncertain 19_8651082_C->A 19 8651082 8651082 C A snp 524.77 0/1 99 52 29 23 0.44 exonic ADAMTS10 AR nonsynonymous SNV NM_030957 exon22 c.G2584T p.A862S 0.0373403 0.0139 0.032687 0.0106 0.0106 0.93 T 0.699 N -1.065 T 0.059 T 0.026 T Pathogenic 19_8654916_G->A 19 8654916 8654916 G A snp 935.77 0/1 99 64 26 38 0.59 intronic ADAMTS10 AR NM_030957 exon11 c.9099+41G>A 0.195687 0.4802 0.055376 0.1459 0.5366 Uncertain 19_8669931_G->C 19 8669931 8669931 G C snp 3513.77 1/1 99 128 0 128 1.0 exonic ADAMTS10 AR nonsynonymous SNV NM_030957 exon4 c.C401G p.T134S 0.89397 0.9702 0.781702 0.7994 0.9733 1 T 0.0 P -0.952 T 0.0 T 0.002 T Pathogenic 19_8808373_G->T 19 8808373 8808373 G T snp 2369.77 0/1 99 178 86 92 0.52 exonic rs4804079 ACTL9 AU nonsynonymous SNV NM_178525 exon1 c.C679A p.H227N 0.60004 0.6825 0.527987 0.5524 0.6857 0 D 0.605 P -1.092 T 0.98 D 0.871 D Pathogenic 19_8808900_A->G 19 8808900 8808900 A G snp 5079.77 1/1 99 183 0 183 1.0 exonic rs10410943 ACTL9 AU nonsynonymous SNV NM_178525 exon1 c.T152C p.V51A 0.791733 0.874 0.720744 0.7357 0.8598 1 T 0.0 P -0.957 T 0.0 T 0.0 T Pathogenic 19_8808942_A->G 19 8808942 8808942 A G snp 5067.77 1/1 99 182 0 182 1.0 exonic rs2340550 ACTL9 AU nonsynonymous SNV NM_178525 exon1 c.T110C p.F37S 0.791733 0.874 0.715529 0.7357 0.8608 0.03 T 0.0 P -0.870 T 0.0 T 0.0 T Pathogenic 19_8841558_T->C 19 8841558 8841558 T C snp 1318.77 0/1 99 124 68 56 0.45 exonic rs28324 OR2Z1 AU synonymous SNV NM_001004699 exon1 c.T168C p.H56H 0.639377 0.4563 0.725204 0.6119 0.4832 Uncertain 19_8923117_A->G 19 8923117 8923117 A G snp 637.77 0/1 99 42 19 23 0.55 intronic ZNF558 AU NM_001304350 exon2 c.1280-119A>G 0.851637 0.749 Uncertain 19_8932524_T->C 19 8932524 8932524 T C snp 101.77 0/1 99 10 6 4 0.4 UTR5 rs12978839 ZNF558 AU 0.148363 0.251 Uncertain 19_8933061_A->C 19 8933061 8933061 A C snp 44.77 0/1 31 3 1 2 0.67 intronic rs11665827 ZNF558 AU NM_144693 exon6 c.11348-243A>C 0.148562 0.25 Uncertain 19_8953801_T->C 19 8953801 8953801 T C snp 1541.77 0/1 99 119 62 57 0.48 exonic rs2969292 MBD3L1 AU synonymous SNV NM_145208 exon1 c.T447C p.V149V 0.911741 0.9107 0.923497 0.9224 0.9024 Uncertain 19_8953922_C->T 19 8953922 8953922 C T snp 1273.77 0/1 99 130 68 62 0.48 exonic rs2972588 MBD3L1 AU nonsynonymous SNV NM_145208 exon1 c.C568T p.R190C 0.889776 0.9048 0.902370 0.9148 0.8991 0.2 T 0.0 P -1.036 T 0.0 T 0.0 T Pathogenic 19_8961981_C->G 19 8961981 8961981 C G snp 2344.77 0/1 99 250 146 104 0.42 exonic rs1035442 MUC16 AU nonsynonymous SNV NM_024690 exon83 c.G43396C p.V14466L 0.911741 0.9107 0.925908 0.9214 0.9033 1 T -1.009 T 0.0 T 0.0 T Pathogenic 19_8962315_C->A 19 8962315 8962315 C A snp 330.77 0/1 99 46 29 17 0.37 intronic rs2910353 MUC16 AU NM_024690 exon3 c.2746-38C>A 0.234824 0.256 0.247493 0.3140 0.2577 Uncertain 19_8974237_G->C 19 8974237 8974237 G C snp 436.77 0/1 99 29 13 16 0.55 intronic rs11670820 MUC16 AU NM_024690 exon9 c.14495+135G>C 0.2502 0.254 Uncertain 19_8976075_G->A 19 8976075 8976075 G A snp 227.77 0/1 99 11 4 7 0.64 intronic rs1833776 MUC16 AU NM_024690 exon10 c.16652-184G>A 0.248602 0.2579 Uncertain 19_8976471_G->A 19 8976471 8976471 G A snp 228.77 0/1 99 28 20 8 0.29 intronic rs3764554 MUC16 AU NM_024690 exon10 c.16825+39G>A 0.284944 0.255 0.322605 0.3529 0.2812 Uncertain 19_8976504_G->A 19 8976504 8976504 G A snp 107.77 0/1 99 20 14 6 0.3 intronic rs3764553 MUC16 AU NM_024690 exon10 c.16825+72G>A 0.282149 0.2569 Uncertain 19_8976713_A->G 19 8976713 8976713 A G snp 1083.77 0/1 99 99 54 45 0.45 intronic rs3764552 MUC16 AU NM_024690 exon12 c.17131-25A>G 0.291134 0.2589 0.327897 0.3468 0.2826 Uncertain 19_8976921_C->T 19 8976921 8976921 C T snp 311.77 0/1 99 34 20 14 0.41 intronic rs11085755 MUC16 AU NM_024690 exon12 c.17253+61C>T 0.285543 0.2609 Uncertain 19_8977514_A->G 19 8977514 8977514 A G snp 481.77 0/1 99 36 17 19 0.53 intronic rs1469077 MUC16 AU NM_024690 exon13 c.18032-125A>G 0.285343 0.2609 Uncertain 19_8982084_C->G 19 8982084 8982084 C G snp 332.77 0/1 99 23 10 13 0.57 intronic rs3752139 MUC16 AU NM_024690 exon15 c.22549-72C>G 0.885982 0.9137 Uncertain 19_8987133_T->C 19 8987133 8987133 T C snp 985.77 0/1 99 82 42 40 0.49 intronic rs3764555 MUC16 AU NM_024690 exon16 c.27505+21T>C 0.904553 0.8869 0.930448 0.9098 0.8721 Uncertain 19_8992971_T->G 19 8992971 8992971 T G snp 73.77 0/1 99 12 7 5 0.42 intronic MUC16 AU NM_024690 exon18 c.33399-35T>G Uncertain 19_8992972_A->G 19 8992972 8992972 A G snp 76.77 0/1 99 12 7 5 0.42 intronic MUC16 AU NM_024690 exon18 c.33399-34A>G Uncertain 19_8992980_C->G 19 8992980 8992980 C G snp 67.77 0/1 96 15 10 5 0.33 intronic MUC16 AU NM_024690 exon18 c.33399-26C>G Uncertain 19_8992981_T->G 19 8992981 8992981 T G snp 70.77 0/1 99 15 10 5 0.33 intronic MUC16 AU NM_024690 exon18 c.33399-25T>G Uncertain 19_8992988_G->A 19 8992988 8992988 G A snp 67.77 0/1 96 15 10 5 0.33 intronic rs371102230 MUC16 AU NM_024690 exon18 c.33399-18G>A Uncertain 19_8992993_G->A 19 8992993 8992993 G A snp 62.77 0/1 91 17 12 5 0.29 intronic rs114497462 MUC16 AU NM_024690 exon18 c.33399-13G>A 0.000399361 1.656e-05 0 Uncertain 19_8992996_T->A 19 8992996 8992996 T A snp 61.77 0/1 90 19 14 5 0.26 intronic MUC16 AU NM_024690 exon18 c.33399-10T>A Uncertain 19_8992997_G->A 19 8992997 8992997 G A snp 58.77 0/1 87 20 15 5 0.25 intronic MUC16 AU NM_024690 exon18 c.33399-9G>A Uncertain 19_8993017_G->T 19 8993017 8993017 G T snp 173.77 0/1 99 29 19 10 0.34 exonic rs111468097 MUC16 AU synonymous SNV NM_024690 exon67 c.C41742A p.P13914P 0.33 T -0.912 T Likely benign 19_8993020_T->C 19 8993020 8993020 T C snp 159.77 0/1 99 29 19 10 0.34 exonic MUC16 AU synonymous SNV NM_024690 exon67 c.A41739G p.V13913V -1.016 T Likely benign 19_8993031_G->A 19 8993031 8993031 G A snp 37.77 0/1 66 33 26 7 0.21 exonic MUC16 AU nonsynonymous SNV NM_024690 exon67 c.C41728T p.R13910W 0.02 T -0.931 T 0.999 D 0.994 D Pathogenic 19_8993033_T->G 19 8993033 8993033 T G snp 112.77 0/1 99 35 26 9 0.26 exonic MUC16 AU nonsynonymous SNV NM_024690 exon67 c.A41726C p.H13909P 0.1 T -0.925 T 0.959 D 0.956 D Pathogenic 19_8993036_G->T 19 8993036 8993036 G T snp 106.77 0/1 99 36 27 9 0.25 exonic MUC16 AU nonsynonymous SNV NM_024690 exon67 c.C41723A p.T13908N 0.24 T -0.911 T 0.994 D 0.98 D Pathogenic 19_8993041_A->G 19 8993041 8993041 A G snp 151.77 0/1 99 36 24 12 0.33 exonic MUC16 AU synonymous SNV NM_024690 exon67 c.T41718C p.G13906G -1.008 T Likely benign 19_8993048_C->G 19 8993048 8993048 C G snp 238.77 0/1 99 43 29 14 0.33 splicing rs771781486 MUC16 AU NM_024690 exon18 c.33435+6C>G 8.284e-06 0 Pathogenic 19_8994113_T->C 19 8994113 8994113 T C snp 571.77 0/1 99 39 14 25 0.64 intronic rs2009979 MUC16 AU NM_024690 exon20 c.34534-28T>C 0.904553 0.8869 0.931245 0.9086 0.8705 Uncertain 19_8994285_T->A 19 8994285 8994285 T A snp 725.77 0/1 99 59 28 31 0.53 intronic rs752410 MUC16 AU NM_024690 exon20 c.34602+76T>A 0.464257 0.4593 Uncertain 19_8994373_A->G 19 8994373 8994373 A G snp 619.77 0/1 99 41 19 22 0.54 intronic rs873869 MUC16 AU NM_024690 exon21 c.34809-43A>G 0.90595 0.8651 0.923052 0.8948 0.8646 Uncertain 19_8997415_G->A 19 8997415 8997415 G A snp 310.77 0/1 99 68 46 22 0.32 exonic MUC16 AU synonymous SNV NM_024690 exon59 c.C41007T p.G13669G -0.997 T Likely benign 19_8997421_A->C 19 8997421 8997421 A C snp 368.77 0/1 99 78 54 24 0.31 exonic MUC16 AU synonymous SNV NM_024690 exon59 c.T41001G p.L13667L -0.991 T Likely benign 19_8997424_G->A 19 8997424 8997424 G A snp 404.77 0/1 99 84 59 25 0.3 exonic MUC16 AU synonymous SNV NM_024690 exon59 c.C40998T p.V13666V -0.973 T Likely benign 19_8997454_G->A 19 8997454 8997454 G A snp 518.77 0/1 99 127 89 38 0.3 exonic rs76629162 MUC16 AU synonymous SNV NM_024690 exon59 c.C40968T p.G13656G 0 0 -1.010 T Likely benign 19_8997463_C->T 19 8997463 8997463 C T snp 487.77 0/1 99 133 95 38 0.29 exonic rs73001893 MUC16 AU synonymous SNV NM_024690 exon59 c.G40959A p.Q13653Q -1.009 T Likely benign 19_8997472_C->T 19 8997472 8997472 C T snp 500.77 0/1 99 140 101 39 0.28 exonic rs113387108 MUC16 AU synonymous SNV NM_024690 exon59 c.G40950A p.E13650E 8.281e-06 0 -1.014 T Likely benign 19_8997475_C->T 19 8997475 8997475 C T snp 84.77 0/1 99 145 129 16 0.11 exonic MUC16 AU synonymous SNV NM_024690 exon59 c.G40947A p.E13649E -0.950 T Likely benign 19_8997481_C->A 19 8997481 8997481 C A snp 488.77 0/1 99 150 111 39 0.26 exonic MUC16 AU synonymous SNV NM_024690 exon59 c.G40941T p.R13647R -0.963 T Likely benign 19_8997482_C->T 19 8997482 8997482 C T snp 487.77 0/1 99 150 112 38 0.25 exonic rs553112849 MUC16 AU nonsynonymous SNV NM_024690 exon59 c.G40940A p.R13647Q 0.000399361 4.141e-05 0.0001 0.4 T -1.035 T 0.984 D 0.89 D Pathogenic 19_8997499_G->A 19 8997499 8997499 G A snp 443.77 0/1 99 162 125 37 0.23 exonic rs774409792 MUC16 AU synonymous SNV NM_024690 exon59 c.C40923T p.F13641F 3.312e-05 0 -0.755 T Likely benign 19_8997507_G->A 19 8997507 8997507 G A snp 42.77 0/1 71 163 143 20 0.12 exonic MUC16 AU nonsynonymous SNV NM_024690 exon59 c.C40915T p.L13639F 0.06 T -0.801 T 0.984 D 0.974 D Pathogenic 19_8997508_A->G 19 8997508 8997508 A G snp 57.77 0/1 86 164 150 14 0.09 exonic MUC16 AU synonymous SNV NM_024690 exon59 c.T40914C p.T13638T -0.983 T Likely benign 19_8997515_A->G 19 8997515 8997515 A G snp 54.77 0/1 83 148 129 19 0.13 exonic MUC16 AU nonsynonymous SNV NM_024690 exon59 c.T40907C p.L13636P 0.42 T -0.954 T 0.995 D 0.988 D Pathogenic 19_8998532_T->C 19 8998532 8998532 T C snp 560.77 1/1 42 15 0 15 1.0 intronic rs57902801 MUC16 AU NM_024690 exon27 c.39090-165T>C 0.999601 0.998 Uncertain 19_8999345_C->T 19 8999345 8999345 C T snp 132.77 0/1 99 20 13 7 0.35 intronic rs80011913 MUC16 AU NM_024690 exon29 c.39784-46C>T 0.000199681 0.0002 0.0002 Uncertain 19_8999352_G->T 19 8999352 8999352 G T snp 157.77 0/1 99 29 22 7 0.24 intronic MUC16 AU NM_024690 exon29 c.39784-39G>T Uncertain 19_8999354_A->T 19 8999354 8999354 A T snp 170.77 0/1 99 32 24 8 0.25 intronic rs77249369 MUC16 AU NM_024690 exon29 c.39784-37A>T Uncertain 19_8999355_A->G 19 8999355 8999355 A G snp 93.77 0/1 99 34 28 6 0.18 intronic rs770816672 MUC16 AU NM_024690 exon29 c.39784-36A>G 8.556e-06 0 Uncertain 19_8999356_G->A 19 8999356 8999356 G A snp 93.77 0/1 99 34 28 6 0.18 intronic MUC16 AU NM_024690 exon29 c.39784-35G>A Uncertain 19_8999366_A->C 19 8999366 8999366 A C snp 728.77 0/1 99 65 34 31 0.48 intronic MUC16 AU NM_024690 exon29 c.39784-25A>C Uncertain 19_8999373_C->T 19 8999373 8999373 C T snp 283.77 0/1 99 87 67 20 0.23 intronic rs75435031 MUC16 AU NM_024690 exon29 c.39784-18C>T 0.0146 0.0104 Uncertain 19_8999382_A->G 19 8999382 8999382 A G snp 114.77 0/1 99 102 90 12 0.12 intronic rs74549975 MUC16 AU NM_024690 exon29 c.39784-9A>G Uncertain 19_8999383_A->G 19 8999383 8999383 A G snp 1715.77 0/1 99 102 30 72 0.71 intronic rs79909361 MUC16 AU NM_024690 exon29 c.39784-8A>G 0.0606 0.0562 Uncertain 19_8999384_C->G 19 8999384 8999384 C G snp 171.77 0/1 99 103 88 15 0.15 intronic MUC16 AU NM_024690 exon29 c.39784-7C>G Uncertain 19_8999385_T->C 19 8999385 8999385 T C snp 178.77 0/1 99 104 89 15 0.14 intronic MUC16 AU NM_024690 exon29 c.39784-6T>C Uncertain 19_8999386_A->G 19 8999386 8999386 A G snp 1368.77 0/1 99 107 47 60 0.56 splicing rs77049866 MUC16 AU NM_024690 exon29 c.39784-5A>G 0.0634 0.0601 Pathogenic 19_8999409_T->C 19 8999409 8999409 T C snp 241.77 0/1 99 174 153 21 0.12 exonic MUC16 AU nonsynonymous SNV NM_024690 exon56 c.A40766G p.D13589G 0.15 T -0.651 T 0.982 D 0.968 D Pathogenic 19_8999411_C->T 19 8999411 8999411 C T snp 229.77 0/1 99 177 156 21 0.12 exonic MUC16 AU synonymous SNV NM_024690 exon56 c.G40764A p.R13588R -0.985 T Likely benign 19_8999421_G->C 19 8999421 8999421 G C snp 777.77 0/1 99 197 134 63 0.32 exonic rs75266616 MUC16 AU nonsynonymous SNV NM_024690 exon56 c.C40754G p.T13585S 0.0021 0.0007 0.27 T -0.957 T 0.917 T 0.915 D Pathogenic 19_8999422_T->G 19 8999422 8999422 T G snp 262.77 0/1 99 198 175 23 0.12 exonic MUC16 AU nonsynonymous SNV NM_024690 exon56 c.A40753C p.T13585P 0.01 T -0.975 T 0.986 D 0.964 D Pathogenic 19_8999429_G->T 19 8999429 8999429 G T snp 80.77 0/1 99 212 191 21 0.1 exonic rs563734214 MUC16 AU synonymous SNV NM_024690 exon56 c.C40746A p.G13582G 0.0193 0.0153 -1.013 T Likely benign 19_8999438_A->T 19 8999438 8999438 A T snp 859.77 0/1 99 232 156 76 0.33 exonic rs77891947 MUC16 AU synonymous SNV NM_024690 exon56 c.T40737A p.T13579T 0.0469 0.0797 -1.002 T Likely benign 19_8999439_G->A 19 8999439 8999439 G A snp 255.77 0/1 99 234 208 26 0.11 exonic MUC16 AU nonsynonymous SNV NM_024690 exon56 c.C40736T p.T13579I 0.01 T -0.601 T 0.984 D 0.964 D Pathogenic 19_8999441_G->A 19 8999441 8999441 G A snp 242.77 0/1 99 236 208 28 0.12 exonic rs80293661 MUC16 AU synonymous SNV NM_024690 exon56 c.C40734T p.I13578I 0.0018 0.0069 -0.945 T Likely benign 19_8999443_T->C 19 8999443 8999443 T C snp 234.77 0/1 99 237 209 28 0.12 exonic rs774801267 MUC16 AU nonsynonymous SNV NM_024690 exon56 c.A40732G p.I13578V 2.49e-05 0 0.48 T -0.863 T 0.228 T 0.453 T Pathogenic 19_8999445_C->T 19 8999445 8999445 C T snp 615.77 0/1 99 240 198 42 0.17 exonic rs112439001 MUC16 AU nonsynonymous SNV NM_024690 exon56 c.G40730A p.S13577N 0.0455272 0.1012 0.0254 0.1059 0.15 T -0.890 T 0.831 T 0.876 P Pathogenic 19_8999446_T->C 19 8999446 8999446 T C snp 950.77 0/1 99 242 180 62 0.26 exonic rs201254514 MUC16 AU nonsynonymous SNV NM_024690 exon56 c.A40729G p.S13577G 0.0102 0.0080 1 T -1.028 T 0.679 T 0.825 P Pathogenic 19_8999447_G->A 19 8999447 8999447 G A snp 260.77 0/1 99 245 220 25 0.1 exonic MUC16 AU synonymous SNV NM_024690 exon56 c.C40728T p.H13576H -1.084 T Likely benign 19_8999448_T->C 19 8999448 8999448 T C snp 265.77 0/1 99 245 220 25 0.1 exonic MUC16 AU nonsynonymous SNV NM_024690 exon56 c.A40727G p.H13576R 0.19 T -0.672 T 0.918 T 0.884 D Pathogenic 19_8999449_G->T 19 8999449 8999449 G T snp 890.77 0/1 99 247 193 54 0.22 exonic rs76798407 MUC16 AU nonsynonymous SNV NM_024690 exon56 c.C40726A p.H13576N 0.0468 0.0808 0.37 T -0.961 T 0.831 T 0.758 P Pathogenic 19_8999453_C->T 19 8999453 8999453 C T snp 771.77 0/1 99 249 207 42 0.17 exonic rs11085765 MUC16 AU synonymous SNV NM_024690 exon56 c.G40722A p.L13574L 0.598442 0.6062 0.583373 0.4672 0.4316 Uncertain 19_8999456_C->T 19 8999456 8999456 C T snp 259.77 0/1 99 249 223 26 0.1 exonic MUC16 AU synonymous SNV NM_024690 exon56 c.G40719A p.Q13573Q -0.987 T Likely benign 19_8999458_G->T 19 8999458 8999458 G T snp 295.77 0/1 99 249 222 27 0.11 exonic MUC16 AU nonsynonymous SNV NM_024690 exon56 c.C40717A p.Q13573K 0.17 T -0.839 T 0.679 T 0.535 P Pathogenic 19_8999462_C->T 19 8999462 8999462 C T snp 557.77 0/1 99 250 212 38 0.15 exonic rs764880286 MUC16 AU synonymous SNV NM_024690 exon56 c.G40713A p.L13571L 0.0014 0.0007 Uncertain 19_8999468_C->G 19 8999468 8999468 C G snp 33.77 0/1 62 250 232 18 0.07 exonic MUC16 AU nonsynonymous SNV NM_024690 exon56 c.G40707C p.W13569C 0.09 T -0.728 T 0.995 D 0.988 D Pathogenic 19_8999474_T->C 19 8999474 8999474 T C snp 1036.77 0/1 99 250 185 65 0.26 exonic rs199946350 MUC16 AU synonymous SNV NM_024690 exon56 c.A40701G p.L13567L 0.0364 0.0444 -1.029 T Likely benign 19_8999478_T->C 19 8999478 8999478 T C snp 614.77 0/1 99 250 203 47 0.19 exonic rs73493659 MUC16 AU nonsynonymous SNV NM_024690 exon56 c.A40697G p.Q13566R 0.0034 0.0016 0.65 T -0.860 T 0.679 T 0.659 P Pathogenic 19_8999488_C->T 19 8999488 8999488 C T snp 132.77 0/1 99 249 214 35 0.14 exonic rs200071553 MUC16 AU nonsynonymous SNV NM_024690 exon56 c.G40687A p.D13563N 0.0078 0.0098 0.12 T -0.883 T 0.982 D 0.968 D Pathogenic 19_8999492_T->C 19 8999492 8999492 T C snp 258.77 0/1 99 245 220 25 0.1 exonic rs775092801 MUC16 AU synonymous SNV NM_024690 exon56 c.A40683G p.G13561G 1.691e-05 0 -0.968 T Likely benign 19_8999498_G->T 19 8999498 8999498 G T snp 326.77 0/1 99 216 177 39 0.18 exonic rs760351137 MUC16 AU nonsynonymous SNV NM_024690 exon56 c.C40677A p.S13559R 2.551e-05 0 0.31 T -1.001 T 0.965 D 0.92 D Pathogenic 19_8999500_T->C 19 8999500 8999500 T C snp 31.77 0/1 60 192 179 13 0.07 exonic rs77751609 MUC16 AU nonsynonymous SNV NM_024690 exon56 c.A40675G p.S13559G 8.504e-06 0 1 T -0.959 T 0.679 T 0.825 P Pathogenic 19_8999501_T->A 19 8999501 8999501 T A snp 35.77 0/1 64 194 180 14 0.07 exonic MUC16 AU nonsynonymous SNV NM_024690 exon56 c.A40674T p.K13558N 0.09 T -0.935 T 0.962 D 0.946 D Pathogenic 19_8999502_T->G 19 8999502 8999502 T G snp 47.77 0/1 76 193 179 14 0.07 exonic rs761586719 MUC16 AU nonsynonymous SNV NM_024690 exon56 c.A40673C p.K13558T 8.508e-06 0 0.31 T -1.047 T 0.962 D 0.946 D Pathogenic 19_8999503_T->G 19 8999503 8999503 T G snp 229.77 0/1 99 190 160 30 0.16 exonic rs765214169 MUC16 AU nonsynonymous SNV NM_024690 exon56 c.A40672C p.K13558Q 0.0004 0 0.54 T -0.861 T 0.962 D 0.946 D Pathogenic 19_8999504_G->A 19 8999504 8999504 G A snp 134.77 0/1 99 189 160 29 0.15 exonic rs762789675 MUC16 AU synonymous SNV NM_024690 exon56 c.C40671T p.P13557P 0.0004 0 0.02 T -0.932 T Likely benign 19_8999507_A->G 19 8999507 8999507 A G snp 190.77 0/1 99 191 161 30 0.16 exonic MUC16 AU synonymous SNV NM_024690 exon56 c.T40668C p.D13556D 0.0004 0 -0.936 T Likely benign 19_8999509_C->T 19 8999509 8999509 C T snp 288.77 0/1 99 190 166 24 0.13 exonic rs756428204 MUC16 AU nonsynonymous SNV NM_024690 exon56 c.G40666A p.D13556N 8.56e-06 0 0.17 T -0.641 T 0.989 D 0.989 D Pathogenic 19_8999514_C->T 19 8999514 8999514 C T snp 792.77 0/1 99 190 139 51 0.27 exonic rs548751371 MUC16 AU nonsynonymous SNV NM_024690 exon56 c.G40661A p.R13554H 0.000798722 0.0004 0 0.34 T -0.960 T 0.938 T 0.715 D Pathogenic 19_8999518_A->G 19 8999518 8999518 A G snp 613.77 0/1 99 192 151 41 0.21 exonic rs77650227 MUC16 AU nonsynonymous SNV NM_024690 exon56 c.T40657C p.Y13553H 0.0004 0.0002 0.85 T -0.962 T 0.226 T 0.523 T Pathogenic 19_8999522_G->A 19 8999522 8999522 G A snp 200.77 0/1 99 177 149 28 0.16 exonic rs776210869 MUC16 AU synonymous SNV NM_024690 exon56 c.C40653T p.C13551C 0.0004 0.0002 -0.937 T Likely benign 19_8999531_A->G 19 8999531 8999531 A G snp 81.77 0/1 99 175 161 14 0.08 exonic rs766227927 MUC16 AU synonymous SNV NM_024690 exon56 c.T40644C p.D13548D 6.106e-05 0.0002 -0.886 T Likely benign 19_8999538_T->C 19 8999538 8999538 T C snp 704.77 0/1 99 173 131 42 0.24 exonic rs78334969 MUC16 AU nonsynonymous SNV NM_024690 exon56 c.A40637G p.K13546R 0.0002 0.0002 0.2 T -0.968 T 0.728 T 0.618 P Pathogenic 19_8999539_T->C 19 8999539 8999539 T C snp 103.77 0/1 99 172 154 18 0.1 exonic rs76810971 MUC16 AU nonsynonymous SNV NM_024690 exon56 c.A40636G p.K13546E 6.167e-05 0.0002 0.57 T -0.834 T 0.971 D 0.97 D Pathogenic 19_8999540_G->A 19 8999540 8999540 G A snp 129.77 0/1 99 171 154 17 0.1 exonic rs75422108 MUC16 AU synonymous SNV NM_024690 exon56 c.C40635T p.T13545T 6.169e-05 0.0002 -1.099 T Likely benign 19_8999675_A->C 19 8999675 8999675 A C snp 184.77 0/1 99 25 18 7 0.28 intronic rs11085766 MUC16 AU NM_024690 exon29 c.39957+111A>C 0.598442 0.6062 Uncertain 19_9000132_G->A 19 9000132 9000132 G A snp 56.77 0/1 85 41 36 5 0.12 intronic MUC16 AU NM_024690 exon30 c.40539-14G>A Uncertain 19_9000137_C->A 19 9000137 9000137 C A snp 86.77 0/1 99 45 38 7 0.16 intronic MUC16 AU NM_024690 exon30 c.40539-9C>A Uncertain 19_9000140_T->G 19 9000140 9000140 T G snp 118.77 0/1 99 49 42 7 0.14 intronic MUC16 AU NM_024690 exon30 c.40539-6T>G Uncertain 19_9000169_C->T 19 9000169 9000169 C T snp 612.77 0/1 99 96 56 40 0.42 exonic MUC16 AU nonsynonymous SNV NM_024690 exon55 c.G40588A p.G13530S 0.23 T -0.602 T 0.995 D 0.991 D Pathogenic 19_9000170_A->G 19 9000170 9000170 A G snp 649.77 0/1 99 96 56 40 0.42 exonic MUC16 AU synonymous SNV NM_024690 exon55 c.T40587C p.S13529S -0.984 T Likely benign 19_9000185_A->G 19 9000185 9000185 A G snp 701.77 0/1 99 104 61 43 0.41 exonic MUC16 AU synonymous SNV NM_024690 exon55 c.T40572C p.V13524V -0.986 T Likely benign 19_9000187_C->T 19 9000187 9000187 C T snp 702.77 0/1 99 106 63 43 0.41 exonic MUC16 AU nonsynonymous SNV NM_024690 exon55 c.G40570A p.V13524I 0.83 T -0.978 T 0.884 T 0.889 P Pathogenic 19_9000194_G->A 19 9000194 9000194 G A snp 779.77 0/1 99 110 63 47 0.43 exonic MUC16 AU synonymous SNV NM_024690 exon55 c.C40563T p.N13521N -1.001 T Likely benign 19_9000205_C->A 19 9000205 9000205 C A snp 763.77 0/1 99 108 63 45 0.42 exonic MUC16 AU nonsynonymous SNV NM_024690 exon55 c.G40552T p.V13518L -0.976 T 0.396 T 0.523 T Pathogenic 19_9000206_A->G 19 9000206 9000206 A G snp 768.77 0/1 99 108 63 45 0.42 exonic MUC16 AU synonymous SNV NM_024690 exon55 c.T40551C p.P13517P -0.992 T Likely benign 19_9000240_G->T 19 9000240 9000240 G T snp 673.77 0/1 99 111 64 47 0.42 intronic rs73003709 MUC16 AU NM_024690 exon30 c.40607+26G>T Uncertain 19_9000326_G->C 19 9000326 9000326 G C snp 586.77 0/1 99 59 33 26 0.44 intronic rs35743385 MUC16 AU NM_024690 exon30 c.40607+112G>C 0.598642 0.6062 Uncertain 19_9001822_A->G 19 9001822 9001822 A G snp 1074.77 0/1 99 118 66 52 0.44 intronic rs12976111 MUC16 AU NM_024690 exon32 c.42223-8A>G 0.598243 0.6071 0.654333 0.6848 0.6183 Uncertain 19_9001833_A->G 19 9001833 9001833 A G snp 1053.77 0/1 99 120 68 52 0.43 exonic rs12976122 MUC16 AU nonsynonymous SNV NM_024690 exon53 c.T40415C p.M13472T 0.598243 0.6062 0.648052 0.6787 0.6102 1 T -0.996 T 0.076 T 0.067 T Pathogenic 19_9001835_G->A 19 9001835 9001835 G A snp 999.77 0/1 99 119 68 51 0.43 exonic rs12985778 MUC16 AU synonymous SNV NM_024690 exon53 c.C40413T p.P13471P 0.598442 0.6071 0.646252 0.6788 0.6109 0.62 T -0.972 T Likely benign 19_9001986_C->A 19 9001986 9001986 C A snp 418.77 0/1 99 23 9 14 0.61 intronic rs12461757 MUC16 AU NM_024690 exon32 c.42289+90C>A 0.602236 0.6071 Uncertain 19_9002113_A->G 19 9002113 9002113 A G snp 574.77 0/1 99 46 22 24 0.52 intronic rs12462672 MUC16 AU NM_024690 exon33 c.42545-39A>G 0.602236 0.6071 0.659091 0.6924 0.6333 Uncertain 19_9002493_T->C 19 9002493 9002493 T C snp 567.77 0/1 99 61 33 28 0.46 intronic rs77972891 MUC16 AU NM_024690 exon34 c.42893-7T>C 0.4986 0.4994 Uncertain 19_9002504_T->C 19 9002504 9002504 T C snp 619.77 0/1 99 69 41 28 0.41 exonic rs78327556 MUC16 AU nonsynonymous SNV NM_024690 exon51 c.A40312G p.N13438D 0.000798722 0.4965 0.4995 0.2 T -0.730 T 0.945 T 0.959 D Pathogenic 19_9002519_G->C 19 9002519 9002519 G C snp 603.77 0/1 99 87 58 29 0.33 exonic rs150783178 MUC16 AU nonsynonymous SNV NM_024690 exon51 c.C40297G p.H13433D 0.217439 0.4896 0.4993 1 T -1.048 T 0.222 T 0.355 T Pathogenic 19_9002576_T->C 19 9002576 9002576 T C snp 572.77 0/1 99 140 107 33 0.24 exonic rs80214581 MUC16 AU nonsynonymous SNV NM_024690 exon51 c.A40240G p.K13414E 0.4146 0.4480 1 T -1.022 T 0.662 T 0.551 P Pathogenic 19_9002587_C->T 19 9002587 9002587 C T snp 514.77 0/1 99 149 118 31 0.21 exonic rs201053591 MUC16 AU nonsynonymous SNV NM_024690 exon51 c.G40229A p.R13410Q 0.4010 0.4383 0.77 T -0.990 T 0.936 T 0.566 D Pathogenic 19_9002597_C->T 19 9002597 9002597 C T snp 438.77 0/1 99 153 124 29 0.19 exonic rs758360332 MUC16 AU nonsynonymous SNV NM_024690 exon51 c.G40219A p.D13407N 0.3947 0.4379 0.06 T -0.873 T 0.988 D 0.985 D ID=COSM1315975,COSM1315974;OCCURENCE=1(thyroid),1(haematopoietic_and_lymphoid_tissue) Pathogenic 19_9002612_T->G 19 9002612 9002612 T G snp 91.77 0/1 99 129 118 11 0.09 exonic rs544501645 MUC16 AU nonsynonymous SNV NM_024690 exon51 c.A40204C p.K13402Q 0.000399361 0.3907 0.4377 0.63 T -1.005 T 0.975 D 0.974 D Pathogenic 19_9002613_G->A 19 9002613 9002613 G A snp 88.77 0/1 99 128 117 11 0.09 exonic rs201378021 MUC16 AU synonymous SNV NM_024690 exon51 c.C40203T p.P13401P 0.000998403 0.3893 0.4384 0.13 T -0.861 T ID=COSM1397841,COSM1397842;OCCURENCE=1(thyroid),1(large_intestine) Likely benign 19_9003618_C->T 19 9003618 9003618 C T snp 917.77 0/1 99 110 65 45 0.41 exonic rs11085776 MUC16 AU nonsynonymous SNV NM_024690 exon49 c.G40022A p.R13341H 0.620008 0.6071 0.679174 0.6923 0.6243 0 D -1.102 T 0.229 T 0.044 T Pathogenic 19_9003645_G->A 19 9003645 9003645 G A snp 1067.77 0/1 99 132 78 54 0.41 exonic rs11085777 MUC16 AU nonsynonymous SNV NM_024690 exon49 c.C39995T p.T13332I 0.252196 0.2698 0.308684 0.3454 0.2841 0 D -0.958 T 0.325 T 0.219 T Pathogenic 19_9003706_T->G 19 9003706 9003706 T G snp 762.77 0/1 99 111 74 37 0.33 intronic rs11085778 MUC16 AU NM_024690 exon36 c.44083+16T>G 0.602236 0.6071 0.654807 0.6881 0.6247 Uncertain 19_9003749_G->T 19 9003749 9003749 G T snp 432.77 0/1 99 68 46 22 0.32 intronic rs11085779 MUC16 AU NM_024690 exon36 c.44083+59G>T 0.602236 0.6071 Uncertain 19_9005041_T->C 19 9005041 9005041 T C snp 610.77 0/1 99 59 31 28 0.47 intronic rs62118260 MUC16 AU NM_024690 exon37 c.45327+107T>C 0.601837 0.6081 Uncertain 19_9005719_A->G 19 9005719 9005719 A G snp 374.77 0/1 99 49 29 20 0.41 exonic rs4804375 MUC16 AU synonymous SNV NM_024690 exon46 c.T39687C p.D13229D 0.733227 0.7361 0.741972 0.7382 0.7473 -1.006 T Likely benign 19_9006370_A->G 19 9006370 9006370 A G snp 1560.77 0/1 99 105 42 63 0.6 exonic rs79341062 MUC16 AU synonymous SNV NM_024690 exon45 c.T39648C p.Y13216Y 0.4603 0.4705 -0.932 T Likely benign 19_9006385_A->G 19 9006385 9006385 A G snp 78.77 0/1 99 114 101 13 0.11 exonic rs201630633 MUC16 AU synonymous SNV NM_024690 exon45 c.T39633C p.S13211S 0.0423 0.0486 -0.939 T Likely benign 19_9006415_T->C 19 9006415 9006415 T C snp 690.77 0/1 99 131 96 35 0.27 splicing rs77874966 MUC16 AU NM_024690 exon40 c.46804+4T>C 0.0592 0.0622 Pathogenic 19_9006416_T->A 19 9006416 9006416 T A snp 1538.77 0/1 99 132 64 68 0.52 splicing rs77248019 MUC16 AU NM_024690 exon40 c.46804+5T>A 0.2245 0.2541 Pathogenic 19_9006418_G->A 19 9006418 9006418 G A snp 1506.77 0/1 99 133 66 67 0.5 intronic rs201532862 MUC16 AU NM_024690 exon40 c.46804+7G>A 0.1522 0.1800 Uncertain 19_9006422_G->A 19 9006422 9006422 G A snp 439.77 0/1 99 134 105 29 0.22 intronic rs767139464 MUC16 AU NM_024690 exon40 c.46804+11G>A 0.0096 0.0096 Uncertain 19_9006425_A->G 19 9006425 9006425 A G snp 452.77 0/1 99 134 103 31 0.23 intronic MUC16 AU NM_024690 exon40 c.46804+14A>G 0.0097 0.0096 Uncertain 19_9006441_C->G 19 9006441 9006441 C G snp 136.77 0/1 99 83 73 10 0.12 intronic rs753635403 MUC16 AU NM_024690 exon40 c.46804+30C>G 0.1016 0.1301 Uncertain 19_9006463_C->G 19 9006463 9006463 C G snp 697.77 0/1 99 85 55 30 0.35 intronic rs11668219 MUC16 AU NM_024690 exon40 c.46804+52C>G 0.916733 0.875 0.937500 Uncertain 19_9007357_G->A 19 9007357 9007357 G A snp 252.77 0/1 99 13 4 9 0.69 intronic rs73005869 MUC16 AU NM_024690 exon42 c.47879-129G>A 0.276558 0.2202 Uncertain 19_9007630_G->A 19 9007630 9007630 G A snp 1482.77 0/1 99 129 64 65 0.5 intronic rs73005873 MUC16 AU NM_024690 exon42 c.47945+78G>A 0.276358 0.2163 Uncertain 19_9007748_A->G 19 9007748 9007748 A G snp 553.77 0/1 99 35 16 19 0.54 intronic rs11673136 MUC16 AU NM_024690 exon43 c.48201-60A>G 0.440895 0.4613 0.421813 Uncertain 19_9008317_C->T 19 9008317 9008317 C T snp 86.77 0/1 99 76 64 12 0.16 exonic MUC16 AU nonsynonymous SNV NM_024690 exon41 c.G39235A p.V13079M 0 D -1.027 T 0.321 T 0.041 T Pathogenic 19_9008324_G->T 19 9008324 9008324 G T snp 98.77 0/1 99 68 56 12 0.18 exonic rs79709975 MUC16 AU synonymous SNV NM_024690 exon41 c.C39228A p.A13076A Uncertain 19_9008342_A->G 19 9008342 9008342 A G snp 104.77 0/1 99 59 47 12 0.2 exonic MUC16 AU synonymous SNV NM_024690 exon41 c.T39210C p.S13070S Uncertain 19_9008344_A->G 19 9008344 9008344 A G snp 116.77 0/1 99 59 47 12 0.2 exonic rs201969086 MUC16 AU nonsynonymous SNV NM_024690 exon41 c.T39208C p.S13070P 0 D -1.014 T 0.002 T 0.001 T Pathogenic 19_9008354_G->A 19 9008354 9008354 G A snp 122.77 0/1 99 58 46 12 0.21 intronic MUC16 AU NM_024690 exon44 c.48738+9G>A Uncertain 19_9008356_T->G 19 9008356 9008356 T G snp 128.77 0/1 99 56 44 12 0.21 intronic MUC16 AU NM_024690 exon44 c.48738+11T>G Uncertain 19_9008361_G->T 19 9008361 9008361 G T snp 113.77 0/1 99 55 43 12 0.22 intronic rs74962836 MUC16 AU NM_024690 exon44 c.48738+16G>T Uncertain 19_9008365_A->G 19 9008365 9008365 A G snp 134.77 0/1 99 50 38 12 0.24 intronic MUC16 AU NM_024690 exon44 c.48738+20A>G Uncertain 19_9008393_T->C 19 9008393 9008393 T C snp 141.77 0/1 99 29 18 11 0.38 intronic rs78716083 MUC16 AU NM_024690 exon44 c.48738+48T>C 0.013778 0.011589 0.0046 0 Uncertain 19_9008394_G->A 19 9008394 9008394 G A snp 141.77 0/1 99 28 18 10 0.36 intronic rs77966417 MUC16 AU NM_024690 exon44 c.48738+49G>A Uncertain 19_9008412_G->T 19 9008412 9008412 G T snp 58.77 0/1 87 15 11 4 0.27 intronic rs78276830 MUC16 AU NM_024690 exon44 c.48738+67G>T Uncertain 19_9009244_T->C 19 9009244 9009244 T C snp 30.77 0/1 59 78 69 9 0.12 intronic rs377320256 MUC16 AU NM_024690 exon45 c.49659-22T>C 0.0236 0.0166 Uncertain 19_9009254_A->G 19 9009254 9009254 A G snp 47.77 0/1 76 93 82 11 0.12 intronic rs375943736 MUC16 AU NM_024690 exon45 c.49659-12A>G 0.0281 0.0203 Uncertain 19_9009276_A->G 19 9009276 9009276 A G snp 36.77 0/1 65 116 103 13 0.11 exonic rs73005882 MUC16 AU nonsynonymous SNV NM_024690 exon40 c.T39197C p.I13066T 0.0141 0.0032 0 D -1.046 T 0.0 T 0.0 T Pathogenic 19_9009305_G->A 19 9009305 9009305 G A snp 38.77 0/1 67 149 136 13 0.09 exonic rs763995420 MUC16 AU synonymous SNV NM_024690 exon40 c.C39168T p.V13056V 0.0074 0.0017 Uncertain 19_9009570_G->A 19 9009570 9009570 G A snp 80.77 0/1 99 49 33 16 0.33 intronic rs80323209 MUC16 AU NM_024690 exon46 c.49980-17G>A 8.329e-06 0 Uncertain 19_9009581_C->T 19 9009581 9009581 C T snp 62.77 0/1 91 65 47 18 0.28 intronic rs746678551 MUC16 AU NM_024690 exon46 c.49980-6C>T 0.0026 0.0006 Uncertain 19_9009627_G->A 19 9009627 9009627 G A snp 170.77 0/1 99 124 100 24 0.19 exonic MUC16 AU synonymous SNV NM_024690 exon39 c.C39099T p.S13033S Uncertain 19_9009630_G->T 19 9009630 9009630 G T snp 74.77 0/1 99 133 108 25 0.19 exonic MUC16 AU synonymous SNV NM_024690 exon39 c.C39096A p.G13032G Uncertain 19_9009637_T->C 19 9009637 9009637 T C snp 125.77 0/1 99 139 115 24 0.17 exonic rs766753564 MUC16 AU nonsynonymous SNV NM_024690 exon39 c.A39089G p.H13030R 1.656e-05 0 0 D -1.015 T 0.0 T 0.001 T Pathogenic 19_9009640_C->T 19 9009640 9009640 C T snp 147.77 0/1 99 142 117 25 0.18 exonic rs118154006 MUC16 AU nonsynonymous SNV NM_024690 exon39 c.G39086A p.R13029H 0.00179712 0.0033 0.0003 0 D -1.064 T 0.0 T 0.0 T Pathogenic 19_9009652_C->T 19 9009652 9009652 C T snp 128.77 0/1 99 151 127 24 0.16 exonic MUC16 AU nonsynonymous SNV NM_024690 exon39 c.G39074A p.G13025E 0 D -1.040 T 0.0 T 0.001 T Pathogenic 19_9009663_A->G 19 9009663 9009663 A G snp 121.77 0/1 99 161 137 24 0.15 exonic MUC16 AU synonymous SNV NM_024690 exon39 c.T39063C p.N13021N Uncertain 19_9009675_A->G 19 9009675 9009675 A G snp 105.77 0/1 99 159 136 23 0.14 exonic MUC16 AU synonymous SNV NM_024690 exon39 c.T39051C p.F13017F Uncertain 19_9012791_G->T 19 9012791 9012791 G T snp 976.77 0/1 99 153 95 58 0.38 exonic rs750193122 MUC16 AU synonymous SNV NM_024690 exon34 c.C38653A p.R12885R 0.0100 0.0077 Uncertain 19_9012795_C->T 19 9012795 9012795 C T snp 407.77 0/1 99 165 132 33 0.2 exonic rs574443275 MUC16 AU synonymous SNV NM_024690 exon34 c.G38649A p.T12883T 0.000199681 0.0099 0.0077 Uncertain 19_9012801_G->A 19 9012801 9012801 G A snp 153.77 0/1 99 183 163 20 0.11 exonic MUC16 AU synonymous SNV NM_024690 exon34 c.C38643T p.N12881N Uncertain 19_9012813_G->A 19 9012813 9012813 G A snp 513.77 0/1 99 213 176 37 0.17 exonic rs749421802 MUC16 AU synonymous SNV NM_024690 exon34 c.C38631T p.S12877S 0.0059 0.0057 Uncertain 19_9012816_G->T 19 9012816 9012816 G T snp 545.77 0/1 99 220 153 67 0.3 exonic rs771383463 MUC16 AU synonymous SNV NM_024690 exon34 c.C38628A p.G12876G 0.0060 0.0062 Uncertain 19_9012819_T->A 19 9012819 9012819 T A snp 1918.77 0/1 99 227 125 102 0.45 exonic rs4992694 MUC16 AU synonymous SNV NM_024690 exon34 c.A38625T p.P12875P 0.0060 0.0057 Uncertain 19_9012823_T->C 19 9012823 9012823 T C snp 657.77 0/1 99 240 195 45 0.19 exonic rs4992693 MUC16 AU nonsynonymous SNV NM_024690 exon34 c.A38621G p.H12874R 0.0059 0.0058 0 D -1.042 T 0.001 T 0.001 T Pathogenic 19_9012825_A->T 19 9012825 9012825 A T snp 310.77 0/1 99 250 218 32 0.13 exonic MUC16 AU nonsynonymous SNV NM_024690 exon34 c.T38619A p.H12873Q 0 D -1.029 T 0.001 T 0.001 T Pathogenic 19_9012826_T->C 19 9012826 9012826 T C snp 873.77 0/1 99 250 186 64 0.26 exonic MUC16 AU nonsynonymous SNV NM_024690 exon34 c.A38618G p.H12873R 0 D -1.093 T 0.0 T 0.0 T Pathogenic 19_9012832_T->G 19 9012832 9012832 T G snp 426.77 0/1 99 250 215 35 0.14 exonic MUC16 AU nonsynonymous SNV NM_024690 exon34 c.A38612C p.D12871A 0 D -0.935 T 0.0 T 0.002 T Pathogenic 19_9012840_G->A 19 9012840 9012840 G A snp 2743.77 0/1 99 249 117 132 0.53 exonic rs4992692 MUC16 AU synonymous SNV NM_024690 exon34 c.C38604T p.Y12868Y 0.2819 0.3061 Uncertain 19_9012848_G->A 19 9012848 9012848 G A snp 441.77 0/1 99 250 215 35 0.14 exonic rs112005168 MUC16 AU synonymous SNV NM_024690 exon34 c.C38596T p.L12866L Uncertain 19_9012858_G->A 19 9012858 9012858 G A snp 105.77 0/1 99 250 215 35 0.14 exonic rs111669353 MUC16 AU synonymous SNV NM_024690 exon34 c.C38586T p.T12862T Uncertain 19_9012867_G->T 19 9012867 9012867 G T snp 434.77 0/1 99 250 212 38 0.15 exonic rs202204633 MUC16 AU synonymous SNV NM_024690 exon34 c.C38577A p.L12859L 0.0159 0.0079 ID=COSM1286347,COSM1286346;OCCURENCE=2(autonomic_ganglia) Uncertain 19_9012896_C->G 19 9012896 9012896 C G snp 452.77 0/1 99 226 188 38 0.17 exonic MUC16 AU nonsynonymous SNV NM_024690 exon34 c.G38548C p.A12850P 0 D -1.034 T 0.0 T 0.001 T Pathogenic 19_9012897_A->C 19 9012897 9012897 A C snp 386.77 0/1 99 225 188 37 0.16 exonic MUC16 AU synonymous SNV NM_024690 exon34 c.T38547G p.S12849S Uncertain 19_9012898_G->A 19 9012898 9012898 G A snp 352.77 0/1 99 225 192 33 0.15 exonic MUC16 AU nonsynonymous SNV NM_024690 exon34 c.C38546T p.S12849F 0.12 T -0.918 T 0.028 T 0.007 T Pathogenic 19_9012908_A->G 19 9012908 9012908 A G snp 2411.77 0/1 99 221 104 117 0.53 intronic rs77209900 MUC16 AU NM_024690 exon51 c.53291+10A>G Uncertain 19_9012909_G->A 19 9012909 9012909 G A snp 2359.77 0/1 99 220 104 116 0.53 intronic MUC16 AU NM_024690 exon51 c.53291+11G>A Uncertain 19_9012911_T->G 19 9012911 9012911 T G snp 1450.77 0/1 99 219 139 80 0.37 intronic rs199812452 MUC16 AU NM_024690 exon51 c.53291+13T>G 0.0004 0 Uncertain 19_9012913_G->A 19 9012913 9012913 G A snp 358.77 0/1 99 221 187 34 0.15 intronic rs772847557 MUC16 AU NM_024690 exon51 c.53291+15G>A 8.284e-05 0 Uncertain 19_9012918_C->T 19 9012918 9012918 C T snp 1586.77 0/1 99 219 133 86 0.39 intronic rs75899847 MUC16 AU NM_024690 exon51 c.53291+20C>T 0.0191 0.0161 Uncertain 19_9012930_C->T 19 9012930 9012930 C T snp 1696.77 0/1 99 184 96 88 0.48 intronic rs76135098 MUC16 AU NM_024690 exon51 c.53291+32C>T 0.0211 0.0151 Uncertain 19_9012937_A->G 19 9012937 9012937 A G snp 1564.77 0/1 99 179 98 81 0.45 intronic rs759410088 MUC16 AU NM_024690 exon51 c.53291+39A>G 0.0222 0.0159 Uncertain 19_9012947_G->A 19 9012947 9012947 G A snp 1528.77 0/1 99 172 88 84 0.49 intronic rs754069285 MUC16 AU NM_024690 exon51 c.53291+49G>A 0.0228 0.0166 Uncertain 19_9012958_T->C 19 9012958 9012958 T C snp 1631.77 0/1 99 164 86 78 0.48 intronic rs76003547 MUC16 AU NM_024690 exon51 c.53291+60T>C Uncertain 19_9012977_A->G 19 9012977 9012977 A G snp 889.77 0/1 99 108 68 40 0.37 intronic rs78271560 MUC16 AU NM_024690 exon51 c.53291+79A>G Uncertain 19_9012979_G->A 19 9012979 9012979 G A snp 88.77 0/1 99 105 93 12 0.11 intronic MUC16 AU NM_024690 exon51 c.53291+81G>A Uncertain 19_9012982_G->A 19 9012982 9012982 G A snp 822.77 0/1 99 101 63 38 0.38 intronic MUC16 AU NM_024690 exon51 c.53291+84G>A Uncertain 19_9012983_A->C 19 9012983 9012983 A C snp 803.77 0/1 99 99 62 37 0.37 intronic MUC16 AU NM_024690 exon51 c.53291+85A>C Uncertain 19_9012995_G->A 19 9012995 9012995 G A snp 573.77 0/1 99 71 44 27 0.38 intronic rs372792987 MUC16 AU NM_024690 exon51 c.53291+97G>A Uncertain 19_9013000_A->T 19 9013000 9013000 A T snp 483.77 0/1 99 62 40 22 0.35 intronic MUC16 AU NM_024690 exon51 c.53291+102A>T Uncertain 19_9016982_G->A 19 9016982 9016982 G A snp 31.77 0/1 60 33 27 6 0.18 exonic MUC16 AU synonymous SNV NM_024690 exon27 c.C38013T p.S12671S Uncertain 19_9017005_A->G 19 9017005 9017005 A G snp 48.77 0/1 77 50 41 9 0.18 exonic rs752664873 MUC16 AU nonsynonymous SNV NM_024690 exon27 c.T37990C p.W12664R 1.69e-05 0 0 D -1.012 T 0.0 T 0.0 T Pathogenic 19_9017015_A->G 19 9017015 9017015 A G snp 67.77 0/1 96 57 46 11 0.19 exonic MUC16 AU synonymous SNV NM_024690 exon27 c.T37980C p.G12660G Uncertain 19_9017022_T->G 19 9017022 9017022 T G snp 80.77 0/1 99 63 51 12 0.19 splicing rs199530009 MUC16 AU NM_024690 exon58 c.57409+6T>G Pathogenic 19_9017028_A->G 19 9017028 9017028 A G snp 77.77 0/1 99 65 53 12 0.18 intronic MUC16 AU NM_024690 exon58 c.57409+12A>G Uncertain 19_9020211_C->T 19 9020211 9020211 C T snp 241.77 0/1 99 31 20 11 0.35 intronic rs11882373 MUC16 AU NM_024690 exon64 c.60550+54C>T 0.690096 0.7242 Uncertain 19_9021063_C->T 19 9021063 9021063 C T snp 400.77 0/1 99 155 113 42 0.27 exonic rs200073970 MUC16 AU synonymous SNV NM_024690 exon19 c.G37260A p.L12420L Uncertain 19_9021069_C->T 19 9021069 9021069 C T snp 500.77 0/1 99 159 119 40 0.25 exonic rs758491152 MUC16 AU synonymous SNV NM_024690 exon19 c.G37254A p.R12418R 0.0010 0 ID=COSM1527389;OCCURENCE=1(lung) Uncertain 19_9021075_T->C 19 9021075 9021075 T C snp 1229.77 0/1 99 167 83 84 0.5 exonic rs76949269 MUC16 AU synonymous SNV NM_024690 exon19 c.A37248G p.T12416T 0.0010 0 Uncertain 19_9021081_G->A 19 9021081 9021081 G A snp 394.77 0/1 99 179 133 46 0.26 exonic MUC16 AU synonymous SNV NM_024690 exon19 c.C37242T p.N12414N Uncertain 19_9021096_G->A 19 9021096 9021096 G A snp 575.77 0/1 99 201 153 48 0.24 exonic rs79920615 MUC16 AU synonymous SNV NM_024690 exon19 c.C37227T p.G12409G 0.000199681 8.283e-06 0 Uncertain 19_9021105_A->T 19 9021105 9021105 A T snp 338.77 0/1 99 210 167 43 0.2 exonic rs77455485 MUC16 AU synonymous SNV NM_024690 exon19 c.T37218A p.G12406G Uncertain 19_9021107_C->G 19 9021107 9021107 C G snp 1263.77 0/1 99 212 122 90 0.42 exonic rs75219945 MUC16 AU nonsynonymous SNV NM_024690 exon19 c.G37216C p.G12406R 0.00159744 0.0007 0.0001 0 D -1.021 T 0.002 T 0.004 T Pathogenic 19_9021112_T->G 19 9021112 9021112 T G snp 326.77 0/1 99 212 169 43 0.2 exonic MUC16 AU nonsynonymous SNV NM_024690 exon19 c.A37211C p.D12404A 0 D -0.872 T 0.114 T 0.083 T Pathogenic 19_9021118_C->T 19 9021118 9021118 C T snp 1167.77 0/1 99 215 128 87 0.4 exonic rs79498466 MUC16 AU nonsynonymous SNV NM_024690 exon19 c.G37205A p.G12402E 0 D -0.892 T 0.0 T 0.0 T Pathogenic 19_9021128_G->A 19 9021128 9021128 G A snp 249.77 0/1 99 223 182 41 0.18 exonic rs369228039 MUC16 AU synonymous SNV NM_024690 exon19 c.C37195T p.L12399L 2.485e-05 0 Uncertain 19_9021138_G->A 19 9021138 9021138 G A snp 455.77 0/1 99 220 178 42 0.19 exonic MUC16 AU synonymous SNV NM_024690 exon19 c.C37185T p.T12395T Uncertain 19_9021159_T->C 19 9021159 9021159 T C snp 1008.77 0/1 99 219 151 68 0.31 exonic rs200978134 MUC16 AU synonymous SNV NM_024690 exon19 c.A37164G p.V12388V 0.0002 0 Uncertain 19_9021275_G->C 19 9021275 9021275 G C snp 445.77 0/1 99 27 13 14 0.52 intronic rs7246797 MUC16 AU NM_024690 exon66 c.61577+91G>C 0.371605 0.3978 Uncertain 19_9021328_G->A 19 9021328 9021328 G A snp 135.03 1/1 12 4 0 4 1.0 intronic rs7246933 MUC16 AU NM_024690 exon66 c.61577+144G>A 0.67492 0.6369 Uncertain 19_9024758_T->C 19 9024758 9024758 T C snp 758.77 1/1 57 22 0 22 1.0 intronic rs1862463 MUC16 AU NM_024690 exon69 c.65218-67T>C 0.789936 0.7986 Uncertain 19_9024818_C->G 19 9024818 9024818 C G snp 48.77 0/1 77 66 58 8 0.12 intronic rs200607963 MUC16 AU NM_024690 exon69 c.65218-7C>G Uncertain 19_9024844_T->C 19 9024844 9024844 T C snp 53.77 0/1 82 85 76 9 0.11 exonic MUC16 AU nonsynonymous SNV NM_024690 exon16 c.A37018G p.N12340D 0 D -1.025 T 0.002 T 0.005 T Pathogenic 19_9024951_T->A 19 9024951 9024951 T A snp 101.77 0/1 99 82 70 12 0.15 exonic rs72486383 MUC16 AU nonsynonymous SNV NM_024690 exon16 c.A36911T p.H12304L 0 D -0.925 T 0.0 T 0.002 T Pathogenic 19_9024965_A->G 19 9024965 9024965 A G snp 149.77 0/1 99 77 64 13 0.17 exonic rs72486384 MUC16 AU synonymous SNV NM_024690 exon16 c.T36897C p.D12299D Uncertain 19_9024988_C->G 19 9024988 9024988 C G snp 119.77 0/1 99 65 53 12 0.18 exonic rs77554148 MUC16 AU nonsynonymous SNV NM_024690 exon16 c.G36874C p.D12292H 0 D -0.848 T 0.999 D 0.971 D Pathogenic 19_9024994_C->T 19 9024994 9024994 C T snp 283.77 0/1 99 59 45 14 0.24 exonic rs67631215 MUC16 AU nonsynonymous SNV NM_024690 exon16 c.G36868A p.E12290K 0.304113 0.2421 0.337729 0.3414 0.2833 0 D -0.971 T 0.009 T 0.013 T Pathogenic 19_9024995_G->A 19 9024995 9024995 G A snp 134.77 0/1 99 57 45 12 0.21 exonic rs375977247 MUC16 AU synonymous SNV NM_024690 exon16 c.C36867T p.P12289P 0.000168 6.761e-05 0 Uncertain 19_9024998_C->T 19 9024998 9024998 C T snp 114.77 0/1 99 57 45 12 0.21 exonic rs369351886 MUC16 AU synonymous SNV NM_024690 exon16 c.G36864A p.R12288R 1.695e-05 0 Uncertain 19_9025568_G->A 19 9025568 9025568 G A snp 403.77 0/1 99 50 30 20 0.4 intronic rs767471089 MUC16 AU NM_024690 exon70 c.65983-22G>A 0.1085 0.0955 Uncertain 19_9025584_T->G 19 9025584 9025584 T G snp 494.77 0/1 99 67 40 27 0.4 intronic rs77811999 MUC16 AU NM_024690 exon70 c.65983-6T>G 0.0773 0.0663 Uncertain 19_9025604_A->G 19 9025604 9025604 A G snp 646.77 0/1 99 88 54 34 0.39 exonic rs200791776 MUC16 AU synonymous SNV NM_024690 exon15 c.T36850C p.L12284L 0.3546 0.3409 Uncertain 19_9025652_G->A 19 9025652 9025652 G A snp 233.77 0/1 99 106 88 18 0.17 exonic rs200539549 MUC16 AU nonsynonymous SNV NM_024690 exon15 c.C36802T p.P12268S 0.0029 0.0039 0 D -1.012 T 0.823 T 0.539 P ID=COSM1740538;OCCURENCE=1(haematopoietic_and_lymphoid_tissue) Pathogenic 19_9025654_T->G 19 9025654 9025654 T G snp 143.77 0/1 99 107 85 22 0.21 exonic rs201931630 MUC16 AU nonsynonymous SNV NM_024690 exon15 c.A36800C p.K12267T 0.0018 0.0014 0 D -0.972 T 0.023 T 0.051 T Pathogenic 19_9027101_C->T 19 9027101 9027101 C T snp 336.77 0/1 99 24 12 12 0.5 intronic rs72486385 MUC16 AU NM_024690 exon72 c.67608-114C>T 0.14377 0.378 Uncertain 19_9028373_G->A 19 9028373 9028373 G A snp 2767.77 0/1 99 250 131 119 0.48 exonic rs56396897 MUC16 AU nonsynonymous SNV NM_024690 exon11 c.C36419T p.T12140M 0.214058 0.2381 0.245126 0.2647 0.2623 0 D -1.035 T 1.0 D 0.998 D Pathogenic 19_9028432_C->T 19 9028432 9028432 C T snp 6085.77 1/1 99 223 0 223 1.0 intronic rs10411029 MUC16 AU NM_024690 exon74 c.68789+36C>T 0.65615 0.6349 0.703560 0.6864 0.6291 Uncertain 19_9033314_G->A 19 9033314 9033314 G A snp 554.77 0/1 99 39 13 26 0.67 intronic rs76381387 MUC16 AU NM_024690 exon75 c.73691+16G>A 0.0513179 0.0942 0.024903 0.0504 0.1230 Uncertain 19_9043534_-->G 19 9043534 9043534 - G indel 987.73 0/1 99 66 31 35 0.53 intronic rs35774058 MUC16 AU NM_024690 exon79 c.83854+73insG 0.186302 0.3403 0.143202 Uncertain 19_9043680_G->A 19 9043680 9043680 G A snp 37.77 0/1 66 7 5 2 0.29 intronic rs2059135 MUC16 AU NM_024690 exon79 c.83854+219G>A 0.187101 0.3383 Uncertain 19_9045490_T->G 19 9045490 9045490 T G snp 139.77 0/1 99 26 18 8 0.31 intronic rs75420950 MUC16 AU NM_024690 exon80 c.85956-73T>G 0.0185703 0.0903 Uncertain 19_9045518_T->G 19 9045518 9045518 T G snp 516.77 0/1 99 32 10 22 0.69 intronic rs12984694 MUC16 AU NM_024690 exon80 c.85956-45T>G 0.395168 0.3621 0.432667 0.4899 0.3450 Uncertain 19_9046876_G->T 19 9046876 9046876 G T snp 1361.77 0/1 99 119 63 56 0.47 exonic rs4804378 MUC16 AU nonsynonymous SNV NM_024690 exon5 c.C34755A p.S11585R 0.185104 0.3363 0.147490 0.1901 0.3100 0 D -0.925 T 0.299 T 0.053 T Pathogenic 19_9048320_C->T 19 9048320 9048320 C T snp 1361.77 0/1 99 137 81 56 0.41 exonic rs56334501 MUC16 AU nonsynonymous SNV NM_024690 exon5 c.G33311A p.S11104N 0.185104 0.3363 0.149249 0.1902 0.3091 0 D -0.926 T 0.443 T 0.26 T Pathogenic 19_9048342_C->T 19 9048342 9048342 C T snp 1951.77 0/1 99 132 54 78 0.59 exonic rs10854118 MUC16 AU nonsynonymous SNV NM_024690 exon5 c.G33289A p.V11097M 0.438498 0.497 0.401106 0.4104 0.5209 0 D -0.957 T 0.006 T 0.009 T Pathogenic 19_9048421_T->C 19 9048421 9048421 T C snp 443.77 0/1 99 63 44 19 0.3 exonic rs56194405 MUC16 AU synonymous SNV NM_024690 exon5 c.A33210G p.T11070T 0.185104 0.3363 0.149380 0.1903 0.3098 Uncertain 19_9048895_A->C 19 9048895 9048895 A C snp 1579.77 0/1 99 119 59 60 0.5 exonic rs2012761 MUC16 AU nonsynonymous SNV NM_024690 exon5 c.T32736G p.S10912R 0.159345 0.2619 0.095625 0.1154 0.2640 0 D -0.929 T 0.112 T 0.031 T Pathogenic 19_9049339_C->G 19 9049339 9049339 C G snp 2766.77 0/1 99 243 134 109 0.45 exonic rs11883220 MUC16 AU synonymous SNV NM_024690 exon5 c.G32292C p.T10764T 0.395767 0.3621 0.430969 0.4596 0.3332 Uncertain 19_9049910_C->T 19 9049910 9049910 C T snp 2303.77 0/1 99 230 136 94 0.41 exonic rs56307190 MUC16 AU nonsynonymous SNV NM_024690 exon5 c.G31721A p.R10574H 0.185304 0.3363 0.150367 0.1904 0.3102 0 D -0.943 T 0.009 T 0.004 T Pathogenic 19_9056989_C->G 19 9056989 9056989 C G snp 1992.77 0/1 99 169 90 79 0.47 exonic rs4804381 MUC16 AU nonsynonymous SNV NM_024690 exon3 c.G30457C p.E10153Q 0.186102 0.3313 0.150115 0.1904 0.3086 0 D -0.970 T 0.736 T 0.335 P Pathogenic 19_9057408_A->G 19 9057408 9057408 A G snp 4028.77 1/1 99 132 0 132 1.0 exonic rs1423051 MUC16 AU nonsynonymous SNV NM_024690 exon3 c.T30038C p.L10013P 0.912939 0.8542 0.940876 0.9046 0.8401 0 D -1.039 T 0.0 T 0.001 T Pathogenic 19_9057687_A->G 19 9057687 9057687 A G snp 4190.77 1/1 99 143 0 143 1.0 exonic rs1895364 MUC16 AU nonsynonymous SNV NM_024690 exon3 c.T29759C p.I9920T 0.858626 0.8542 0.884578 0.8719 0.8410 0 D -1.091 T 0.0 T 0.0 T Pathogenic 19_9057721_C->T 19 9057721 9057721 C T snp 1631.77 0/1 99 138 68 70 0.51 exonic rs2216662 MUC16 AU nonsynonymous SNV NM_024690 exon3 c.G29725A p.V9909I 0.442093 0.5635 0.415904 0.4561 0.5527 0 D -0.961 T 0.05 T 0.014 T Pathogenic 19_9058624_G->A 19 9058624 9058624 G A snp 1279.77 0/1 99 113 61 52 0.46 exonic rs11878666 MUC16 AU nonsynonymous SNV NM_024690 exon3 c.C28822T p.P9608S 0.192492 0.3313 0.155353 0.1919 0.3059 0 D -0.918 T 0.039 T 0.021 T Pathogenic 19_9058907_G->C 19 9058907 9058907 G C snp 986.77 0/1 99 125 85 40 0.32 exonic rs1833777 MUC16 AU nonsynonymous SNV NM_024690 exon3 c.C28539G p.H9513Q 0.41893 0.503 0.368271 0.3838 0.5122 0 D -0.935 T 0.0 T 0.0 T Pathogenic 19_9058942_C->T 19 9058942 9058942 C T snp 2879.77 0/1 99 156 49 107 0.69 exonic rs1833778 MUC16 AU nonsynonymous SNV NM_024690 exon3 c.G28504A p.A9502T 0.439497 0.5546 0.419575 0.4557 0.5477 0 D -0.947 T 0.0 T 0.0 T Pathogenic 19_9059159_T->G 19 9059159 9059159 T G snp 3030.77 0/1 99 213 87 126 0.59 exonic rs12462651 MUC16 AU nonsynonymous SNV NM_024690 exon3 c.A28287C p.K9429N 0.146366 0.2669 0.083172 0.1124 0.2674 0 D -0.967 T 0.478 P 0.181 P Pathogenic 19_9059307_C->T 19 9059307 9059307 C T snp 2088.77 0/1 99 231 141 90 0.39 exonic rs12461695 MUC16 AU nonsynonymous SNV NM_024690 exon3 c.G28139A p.G9380D 0.145966 0.2669 0.082994 0.1126 0.2671 0 D -0.950 T 0.502 P 0.273 P Pathogenic 19_9059808_A->G 19 9059808 9059808 A G snp 3739.77 1/1 99 122 0 122 1.0 exonic rs7508222 MUC16 AU nonsynonymous SNV NM_024690 exon3 c.T27638C p.I9213T 0.857029 0.8522 0.882214 0.8726 0.8380 0 D -1.067 T 0.0 T 0.0 T Pathogenic 19_9060085_C->T 19 9060085 9060085 C T snp 2362.77 0/1 99 158 67 91 0.58 exonic rs4804382 MUC16 AU nonsynonymous SNV NM_024690 exon3 c.G27361A p.A9121T 0.201278 0.3254 0.157059 0.1981 0.3030 0 D -0.918 T 0.0 T 0.0 T Pathogenic 19_9060541_C->T 19 9060541 9060541 C T snp 4092.77 1/1 99 149 0 149 1.0 exonic rs11882256 MUC16 AU nonsynonymous SNV NM_024690 exon3 c.G26905A p.V8969M 0.391773 0.5933 0.280296 0.3219 0.5694 0 D -0.963 T 0.001 T 0.002 T Pathogenic 19_9060572_G->A 19 9060572 9060572 G A snp 1923.77 0/1 99 143 65 78 0.55 exonic rs56405542 MUC16 AU synonymous SNV NM_024690 exon3 c.C26874T p.G8958G 0.202077 0.3254 0.157287 0.1982 0.3030 Uncertain 19_9060605_G->A 19 9060605 9060605 G A snp 4072.77 1/1 99 142 1 141 0.99 exonic rs2194168 MUC16 AU synonymous SNV NM_024690 exon3 c.C26841T p.S8947S 0.856829 0.8522 0.883124 0.8725 0.8372 Uncertain 19_9060812_T->C 19 9060812 9060812 T C snp 5164.77 1/1 99 189 0 189 1.0 exonic rs1820099 MUC16 AU synonymous SNV NM_024690 exon3 c.A26634G p.S8878S 0.857428 0.8522 0.882114 0.8728 0.8378 Uncertain 19_9061559_C->G 19 9061559 9061559 C G snp 5193.77 1/1 99 172 0 172 1.0 exonic rs1423052 MUC16 AU synonymous SNV NM_024690 exon3 c.G25887C p.T8629T 0.383187 0.5933 0.280798 0.3151 0.5714 Uncertain 19_9062183_G->C 19 9062183 9062183 G C snp 1896.77 0/1 99 184 108 76 0.41 exonic rs118104593 MUC16 AU synonymous SNV NM_024690 exon3 c.C25263G p.T8421T 0.01877 0.0913 0.0056 0.0761 Uncertain 19_9062415_T->G 19 9062415 9062415 T G snp 4179.77 1/1 99 146 1 145 0.99 exonic rs12978757 MUC16 AU nonsynonymous SNV NM_024690 exon3 c.A25031C p.D8344A 0.588658 0.6042 0.593043 0.6042 0.5745 0 D -0.942 T 0.0 T 0.0 T Pathogenic 19_9062544_T->G 19 9062544 9062544 T G snp 4064.77 1/1 99 135 0 135 1.0 exonic rs2547063 MUC16 AU nonsynonymous SNV NM_024690 exon3 c.A24902C p.N8301T 0.873602 0.8522 0.896365 0.8769 0.8377 0 D -1.083 T 0.0 T 0.0 T Pathogenic 19_9065203_T->C 19 9065203 9065203 T C snp 1102.77 0/1 99 101 54 47 0.47 exonic rs62118307 MUC16 AU nonsynonymous SNV NM_024690 exon3 c.A22243G p.S7415G 0.166933 0.2679 0.100419 0.1177 0.2673 0 D -0.947 T 0.005 T 0.003 T Pathogenic 19_9065510_G->A 19 9065510 9065510 G A snp 1926.77 0/1 99 151 71 80 0.53 exonic rs1867692 MUC16 AU synonymous SNV NM_024690 exon3 c.C21936T p.F7312F 0.180911 0.2679 0.123013 0.1171 0.2658 Uncertain 19_9066259_T->C 19 9066259 9066259 T C snp 2283.77 0/1 99 192 98 94 0.49 exonic rs17000770 MUC16 AU nonsynonymous SNV NM_024690 exon3 c.A21187G p.T7063A 0.351038 0.2768 0.369972 0.3639 0.2710 0 D -0.927 T 0.673 T 0.533 P Pathogenic 19_9066874_G->T 19 9066874 9066874 G T snp 1198.77 0/1 99 132 85 47 0.36 exonic rs12609150 MUC16 AU nonsynonymous SNV NM_024690 exon3 c.C20572A p.P6858T 0.201078 0.3254 0.155575 0.1978 0.3032 0 D -0.926 T 0.176 T 0.027 T Pathogenic 19_9068530_C->T 19 9068530 9068530 C T snp 2039.77 0/1 99 171 82 89 0.52 exonic rs7250080 MUC16 AU nonsynonymous SNV NM_024690 exon3 c.G18916A p.V6306M 0.189497 0.2679 0.123261 0.1235 0.2665 0 D -0.971 T 0.96 D 0.353 D Pathogenic 19_9069338_G->A 19 9069338 9069338 G A snp 2015.77 0/1 99 164 86 78 0.48 exonic rs550938572 MUC16 AU synonymous SNV NM_024690 exon3 c.C18108T p.S6036S 0.000199681 8.288e-06 0 Uncertain 19_9069792_G->A 19 9069792 9069792 G A snp 1515.77 0/1 99 130 66 64 0.49 exonic rs1862458 MUC16 AU nonsynonymous SNV NM_024690 exon3 c.C17654T p.S5885F 0.200879 0.3254 0.156138 0.1978 0.3034 0 D -0.968 T 0.995 D 0.966 D Pathogenic 19_9069892_A->C 19 9069892 9069892 A C snp 1730.77 0/1 99 123 61 62 0.5 exonic rs1862460 MUC16 AU nonsynonymous SNV NM_024690 exon3 c.T17554G p.F5852V 0.254593 0.3264 0.208568 0.2128 0.3037 0 D -0.929 T 0.0 T 0.0 T Pathogenic 19_9070079_C->G 19 9070079 9070079 C G snp 2343.77 0/1 99 201 111 90 0.45 exonic rs1559170 MUC16 AU synonymous SNV NM_024690 exon3 c.G17367C p.T5789T 0.192891 0.2679 0.126709 0.1248 0.2678 Uncertain 19_9070194_A->G 19 9070194 9070194 A G snp 7631.77 1/1 99 249 0 249 1.0 exonic rs1344572 MUC16 AU nonsynonymous SNV NM_024690 exon3 c.T17252C p.I5751T 0.942093 0.8829 0.958200 0.9312 0.8609 0 D -1.044 T 0.0 T 0.0 T Pathogenic 19_9070225_G->C 19 9070225 9070225 G C snp 7295.77 1/1 99 246 0 246 1.0 exonic rs1559172 MUC16 AU nonsynonymous SNV NM_024690 exon3 c.C17221G p.H5741D 0.813299 0.8512 0.822786 0.8281 0.8381 0 D -1.065 T 0.0 T 0.0 T Pathogenic 19_9070837_G->A 19 9070837 9070837 G A snp 4222.77 1/1 99 150 0 150 1.0 exonic rs2547067 MUC16 AU nonsynonymous SNV NM_024690 exon3 c.C16609T p.P5537S 0.819688 0.8512 0.830644 0.8296 0.8378 0 D -1.054 T 0.0 T 0.0 T Pathogenic 19_9071763_T->A 19 9071763 9071763 T A snp 2510.77 1/1 99 94 0 94 1.0 exonic rs10422567 MUC16 AU nonsynonymous SNV NM_024690 exon3 c.A15683T p.N5228I 0.81849 0.8512 0.829904 0.8296 0.8376 0 D -1.092 T 0.0 T 0.0 T Pathogenic 19_9071834_G->C 19 9071834 9071834 G C snp 1435.77 0/1 99 124 60 64 0.52 exonic rs17000803 MUC16 AU synonymous SNV NM_024690 exon3 c.C15612G p.P5204P 0.201078 0.3254 0.157664 0.1978 0.3035 Uncertain 19_9072221_G->A 19 9072221 9072221 G A snp 1354.77 0/1 99 117 61 56 0.48 exonic rs66498329 MUC16 AU synonymous SNV NM_024690 exon3 c.C15225T p.G5075G 0.201078 0.3254 0.157303 0.1980 0.3035 Uncertain 19_9072875_G->A 19 9072875 9072875 G A snp 1711.77 0/1 99 150 78 72 0.48 exonic rs73009098 MUC16 AU synonymous SNV NM_024690 exon3 c.C14571T p.V4857V 0.186701 0.3254 0.124298 0.1678 0.3031 Uncertain 19_9072975_G->A 19 9072975 9072975 G A snp 2032.77 0/1 99 169 88 81 0.48 exonic rs17000816 MUC16 AU nonsynonymous SNV NM_024690 exon3 c.C14471T p.T4824M 0.186901 0.3254 0.124205 0.1679 0.3030 0 D -0.922 T 0.001 T 0.001 T Pathogenic 19_9074073_G->A 19 9074073 9074073 G A snp 2170.77 0/1 99 164 76 88 0.54 exonic rs72486387 MUC16 AU nonsynonymous SNV NM_024690 exon3 c.C13373T p.P4458L 0.186502 0.3254 0.123455 0.1677 0.3033 0 D -0.905 T 0.711 T 0.104 P Pathogenic 19_9075565_C->T 19 9075565 9075565 C T snp 917.77 0/1 99 92 56 36 0.39 exonic rs17000836 MUC16 AU nonsynonymous SNV NM_024690 exon3 c.G11881A p.E3961K 0.159145 0.2679 0.101946 0.1116 0.2684 0 D -0.937 T 0.017 T 0.006 T Pathogenic 19_9075737_T->C 19 9075737 9075737 T C snp 1610.77 0/1 99 123 57 66 0.54 exonic rs2547071 MUC16 AU synonymous SNV NM_024690 exon3 c.A11709G p.V3903V 0.45607 0.5169 0.427993 0.4200 0.5328 Uncertain 19_9077196_C->T 19 9077196 9077196 C T snp 1968.77 0/1 99 149 68 81 0.54 exonic rs7254941 MUC16 AU nonsynonymous SNV NM_024690 exon3 c.G10250A p.R3417Q 0.122604 0.255 0.079845 0.0775 0.2508 0 D -0.891 T 0.95 T 0.315 D Pathogenic 19_9077581_G->T 19 9077581 9077581 G T snp 1114.77 0/1 99 110 62 48 0.44 exonic rs73011014 MUC16 AU nonsynonymous SNV NM_024690 exon3 c.C9865A p.P3289T 0.1873 0.3254 0.124458 0.1676 0.3023 0 D -0.849 T 0.995 D 0.779 D Pathogenic 19_9080344_AAAGAAAAGAAAAGA->- 19 9080344 9080358 AAAGAAAAGAAAAGA - indel 1251.73 0/1 99 15 6 9 0.6 intronic rs201367967 MUC16 AU NM_024690 exon83 c.120843-106_120843-92delAAAGAAAAGAAAAGA Uncertain 19_9080362_-->AA 19 9080362 9080362 - AA indel 310.73 0/1 99 23 14 9 0.39 intronic rs200183504 MUC16 AU NM_024690 exon83 c.120843-88insAA Uncertain 19_9080462_C->G 19 9080462 9080462 C G snp 4105.77 1/1 99 145 0 145 1.0 exonic rs2547065 MUC16 AU nonsynonymous SNV NM_024690 exon2 c.G9569C p.S3190T 0.604433 0.8125 0.567274 0.5996 0.8147 0 D -1.092 T 0.0 T 0.0 T Pathogenic 19_9082514_C->A 19 9082514 9082514 C A snp 1269.77 0/1 99 122 71 51 0.42 exonic rs17000871 MUC16 AU nonsynonymous SNV NM_024690 exon1 c.G9301T p.A3101S 0.172324 0.2292 0.121048 0.1152 0.2274 0 D -0.890 T 0.026 T 0.012 T Pathogenic 19_9083427_A->G 19 9083427 9083427 A G snp 1035.77 0/1 99 108 65 43 0.4 exonic rs1609453 MUC16 AU synonymous SNV NM_024690 exon1 c.T8388C p.A2796A 0.21266 0.3036 0.168693 0.2025 0.3031 Uncertain 19_9083457_C->T 19 9083457 9083457 C T snp 991.77 0/1 99 105 65 40 0.38 exonic rs17000886 MUC16 AU nonsynonymous SNV NM_024690 exon1 c.G8358A p.M2786I 0.190296 0.3036 0.146637 0.1952 0.3023 0 D -0.912 T 0.393 T 0.216 T Pathogenic 19_9084183_G->A 19 9084183 9084183 G A snp 1564.77 0/1 99 118 58 60 0.51 exonic rs1609460 MUC16 AU synonymous SNV NM_024690 exon1 c.C7632T p.P2544P 0.416334 0.3264 0.449150 0.4874 0.3232 Uncertain 19_9084299_T->C 19 9084299 9084299 T C snp 1621.77 0/1 99 152 82 70 0.46 exonic rs1609458 MUC16 AU nonsynonymous SNV NM_024690 exon1 c.A7516G p.T2506A 0.416733 0.3264 0.452966 0.4880 0.3245 0 D -0.960 T 0.927 T 0.801 D Pathogenic 19_9085004_T->C 19 9085004 9085004 T C snp 1612.77 0/1 99 159 95 64 0.4 exonic rs11085805 MUC16 AU nonsynonymous SNV NM_024690 exon1 c.A6811G p.T2271A 0.190096 0.3036 0.145348 0.1958 0.3015 0 D -0.920 T 0.0 T 0.0 T Pathogenic 19_9085643_A->G 19 9085643 9085643 A G snp 1755.77 0/1 99 132 62 70 0.53 exonic rs1574479 MUC16 AU nonsynonymous SNV NM_024690 exon1 c.T6172C p.S2058P 0.190096 0.3036 0.144694 0.1956 0.3011 0 D -0.873 T 0.782 T 0.504 P Pathogenic 19_9086318_G->A 19 9086318 9086318 G A snp 1890.77 0/1 99 142 70 72 0.51 exonic rs4520945 MUC16 AU nonsynonymous SNV NM_024690 exon1 c.C5497T p.L1833F 0.190096 0.3036 0.144102 0.1956 0.3009 0 D -0.818 T 0.991 D 0.934 D Pathogenic 19_9086819_G->A 19 9086819 9086819 G A snp 1944.77 0/1 99 132 62 70 0.53 exonic rs1823056 MUC16 AU synonymous SNV NM_024690 exon1 c.C4996T p.L1666L 0.190096 0.3036 0.143273 0.1956 0.3008 Uncertain 19_9087615_T->A 19 9087615 9087615 T A snp 5251.77 1/1 99 199 0 199 1.0 exonic rs1596798 MUC16 AU nonsynonymous SNV NM_024690 exon1 c.A4200T p.K1400N 0.996006 0.9802 0.999685 0.9989 0.9853 0 D -1.067 T 0.0 T 0.0 T Pathogenic 19_9087758_G->A 19 9087758 9087758 G A snp 1568.77 0/1 99 160 94 66 0.41 exonic rs12611293 MUC16 AU nonsynonymous SNV NM_024690 exon1 c.C4057T p.H1353Y 0.189896 0.3036 0.143418 0.1956 0.3008 0 D -0.906 T 0.006 T 0.002 T Pathogenic 19_9088017_T->G 19 9088017 9088017 T G snp 5454.77 1/1 99 199 0 199 1.0 exonic rs1596797 MUC16 AU nonsynonymous SNV NM_024690 exon1 c.A3798C p.K1266N 0.796326 0.7292 0.769194 0.7434 0.7223 0 D -0.996 T 0.0 T 0.0 T Pathogenic 19_9088330_G->A 19 9088330 9088330 G A snp 2568.77 0/1 99 213 104 109 0.51 exonic rs17000947 MUC16 AU nonsynonymous SNV NM_024690 exon1 c.C3485T p.T1162I 0.189896 0.3036 0.142125 0.1957 0.3013 0 D -0.915 T 0.039 T 0.006 T Pathogenic 19_9088722_G->A 19 9088722 9088722 G A snp 1713.77 0/1 99 109 48 61 0.56 exonic rs17000948 MUC16 AU synonymous SNV NM_024690 exon1 c.C3093T p.G1031G 0.14377 0.2282 0.092680 0.1076 0.2279 Uncertain 19_9088772_T->C 19 9088772 9088772 T C snp 1519.77 0/1 99 133 71 62 0.47 exonic rs17000950 MUC16 AU nonsynonymous SNV NM_024690 exon1 c.A3043G p.R1015G 0.190096 0.3046 0.144566 0.1959 0.3012 0 D -0.830 T 0.968 D 0.895 D Pathogenic 19_9203785_C->T 19 9203785 9203785 C T snp 224.84 1/1 18 6 0 6 1.0 upstream rs4804096 OR1M1 AU Uncertain 19_9204307_A->G 19 9204307 9204307 A G snp 8084.77 1/1 99 250 0 250 1.0 exonic rs4804097 OR1M1 AU synonymous SNV NM_001004456 exon1 c.A387G p.P129P 0.717452 0.8899 0.650546 0.6769 0.8943 Uncertain 19_9212864_A->C 19 9212864 9212864 A C snp 222.84 1/1 18 6 0 6 1.0 downstream rs4804399 OR7G2 AU 0.555112 0.6022 Uncertain 19_9213026_T->C 19 9213026 9213026 T C snp 3278.77 1/1 99 112 0 112 1.0 exonic rs4804400 OR7G2 AU synonymous SNV NM_001005193 exon1 c.A957G p.K319K 0.332867 0.5575 0.281178 0.3376 0.5945 Uncertain 19_9213079_A->C 19 9213079 9213079 A C snp 4361.77 1/1 99 151 0 151 1.0 exonic rs4804401 OR7G2 AU nonsynonymous SNV NM_001005193 exon1 c.T904G p.F302V 0.332468 0.5575 0.281485 0.3375 0.5943 1 T 0.0 P -1.010 T 0.0 T 0.0 T Pathogenic 19_9213132_A->G 19 9213132 9213132 A G snp 4916.77 1/1 99 182 1 181 0.99 exonic rs12610094 OR7G2 AU nonsynonymous SNV NM_001005193 exon1 c.T851C p.V284A 0.404553 0.5903 0.353837 0.4079 0.6213 1 T 0.0 P -0.939 T 0.0 T 0.0 T Pathogenic 19_9225387_-->AAA 19 9225387 9225387 - AAA indel 197.84 1/1 16 13 1 12 0.92 downstream rs34333263 OR7G1 AU 0.0330 0.0369 Uncertain 19_9225685_T->C 19 9225685 9225685 T C snp 7000.77 1/1 99 247 0 247 1.0 exonic rs2195951 OR7G1 AU nonsynonymous SNV NM_001005192 exon1 c.A755G p.Y252C 0.33746 0.3254 0.292480 0.2228 0.2960 0.01 T 0.0 P -0.909 T 0.529 P 0.33 P Pathogenic 19_9226017_C->G 19 9226017 9226017 C G snp 4986.77 1/1 99 166 0 166 1.0 exonic rs2217657 OR7G1 AU nonsynonymous SNV NM_001005192 exon1 c.G423C p.W141C 0.506789 0.3562 0.479394 0.3707 0.3208 1 T 0.0 P -0.990 T 0.0 T 0.0 T Pathogenic 19_9226192_A->G 19 9226192 9226192 A G snp 5402.77 1/1 99 182 0 182 1.0 exonic rs6511874 OR7G1 AU nonsynonymous SNV NM_001005192 exon1 c.T248C p.V83A 0.34385 0.3244 0.296786 0.2244 0.2930 0.16 T 0.0 P -1.010 T 0.034 T 0.049 T Pathogenic 19_9226540_A->G 19 9226540 9226540 A G snp 309.78 1/1 24 8 0 8 1.0 upstream rs36095111 OR7G1 AU 0.430511 0.3552 Uncertain 19_9236698_-->ATGGT 19 9236698 9236698 - ATGGT indel 726.74 1/1 30 10 0 10 1.0 exonic rs111279560 OR7G3 AU frameshift insertion NM_001001958 exon1 c.928_929insACCAT p.S310fs 0.423722 0.3651 0.415482 0.3383 0.3379 ID=COSM1162299;OCCURENCE=1(pancreas) Pathogenic 19_9236886_A->G 19 9236886 9236886 A G snp 4616.77 1/1 99 168 0 168 1.0 exonic rs10424352 OR7G3 AU synonymous SNV NM_001001958 exon1 c.T741C p.V247V 0.423323 0.3651 0.425342 0.3339 0.3410 Uncertain 19_9237435_A->G 19 9237435 9237435 A G snp 2398.77 1/1 99 71 0 71 1.0 exonic rs10407484 OR7G3 AU synonymous SNV NM_001001958 exon1 c.T192C p.S64S 0.449081 0.3651 0.441258 0.3427 0.3430 Uncertain 19_9237542_T->C 19 9237542 9237542 T C snp 4655.77 1/1 99 176 0 176 1.0 exonic rs10414255 OR7G3 AU nonsynonymous SNV NM_001001958 exon1 c.A85G p.M29V 0.424521 0.3651 0.426726 0.3360 0.3416 0.06 T 0.0 P -0.938 T 0.001 T 0.0 T Pathogenic 19_9237720_CTTTCTTC->- 19 9237720 9237727 CTTTCTTC - indel 3287.73 1/1 99 42 0 42 1.0 upstream rs151331809 OR7G3 AU Uncertain 19_9237776_C->T 19 9237776 9237776 C T snp 40.77 0/1 69 5 3 2 0.4 upstream rs10423999 OR7G3 AU Uncertain 19_9237780_C->T 19 9237780 9237780 C T snp 40.77 0/1 69 5 3 2 0.4 upstream OR7G3 AU Uncertain 19_9346055_C->T 19 9346055 9346055 C T snp 1639.77 0/1 99 115 50 65 0.57 intergenic rs116863072 OR7D4 AU 0.0223642 0.0704 Uncertain 19_9346403_T->A 19 9346403 9346403 T A snp 3197.84 0/1 99 250 130 120 0.48 intergenic rs118042782 OR7D4 AU 0.0221645 0.0704 0.0219 0.0934 1 T -1.003 T Uncertain 19_9346427_T->C 19 9346427 9346427 T C snp 7234.77 1/1 99 249 0 249 1.0 intergenic rs1968136 OR7D4 AU 0.814696 0.8621 0.8449 0.8564 1 T -0.955 T Uncertain 19_9346599_C->G 19 9346599 9346599 C G snp 4717.77 1/1 99 161 0 161 1.0 intergenic rs1985937 OR7D4 AU 0.678914 0.8085 0.8008 0.7979 Uncertain 19_9362343_C->T 19 9362343 9362343 C T snp 3187.75 0/1 99 248 122 126 0.51 exonic rs2240927 OR7E24 AU synonymous SNV NM_001079935 exon1 c.C624T p.S208S 0.531749 0.5377 0.402524 0.3761 0.5722 Uncertain 19_9362443_C->T 19 9362443 9362443 C T snp 1154.77 0/1 99 92 47 45 0.49 exonic rs2240928 OR7E24 AU nonsynonymous SNV NM_001079935 exon1 c.C724T p.P242S 0.531949 0.5377 0.401850 0.3736 0.5661 1 T 0.0 P -0.950 T 0.0 T 0.0 T Pathogenic 19_9362799_T->G 19 9362799 9362799 T G snp 2210.77 0/1 99 144 52 92 0.64 downstream rs917707 OR7E24 AU 0.335663 0.4226 Uncertain 19_9435295_C->- 19 9435295 9435295 C - indel 756.73 1/1 59 30 1 29 0.97 intronic rs35401044 ZNF559 AU NM_001202408 exon2 c.516-75delC 0.800519 0.871 Uncertain 19_9529358_G->A 19 9529358 9529358 G A snp 1779.77 0/1 99 157 75 82 0.52 intronic rs117694411 ZNF266 AU NM_001271314 exon4 c.5357+51G>A 0.00399361 0.0198 Uncertain 19_9646739_C->G 19 9646739 9646739 C G snp 327.78 1/1 27 9 0 9 1.0 intronic rs888872 ZNF426 AU NM_024106 exon6 c.7828-144C>G 0.988019 0.999 Uncertain 19_9958878_A->G 19 9958878 9958878 A G snp 1177.77 1/1 87 34 0 34 1.0 intronic rs2010457 PIN1 AU NM_006221 exon3 c.12796+62A>G 0.330871 0.2569 0.3980 0.3414 Uncertain 19_9964823_A->G 19 9964823 9964823 A G snp 1322.77 1/1 99 41 0 41 1.0 UTR3 rs8111802 OLFM2 AU 0.817492 0.6567 0.933559 0.9218 0.6780 Uncertain 19_9965692_T->C 19 9965692 9965692 T C snp 284.78 1/1 24 8 0 8 1.0 intronic rs16996141 OLFM2 AU NM_058164 exon1 c.678+153T>C 0.176917 0.2173 Uncertain 19_10071063_T->C 19 10071063 10071063 T C snp 1325.77 1/1 96 40 0 40 1.0 UTR3 rs10406152 COL5A3 AU 0.828674 0.8542 0.853145 0.8182 0.8779 Uncertain 19_10071586_G->T 19 10071586 10071586 G T snp 1082.77 0/1 99 83 36 47 0.57 intronic rs79185120 COL5A3 AU NM_015719 exon2 c.480+20G>T 0.00399361 0.0139 0.000692 0.0049 0.0150 Uncertain 19_10071634_T->C 19 10071634 10071634 T C snp 544.77 0/1 99 41 18 23 0.56 intronic rs918542 COL5A3 AU NM_015719 exon2 c.480+68T>C 0.678315 0.5387 Uncertain 19_10077158_C->A 19 10077158 10077158 C A snp 1589.77 0/1 99 99 32 67 0.68 intronic rs3745582 COL5A3 AU NM_015719 exon5 c.6125-53C>A 0.366813 0.5347 Uncertain 19_10077419_C->G 19 10077419 10077419 C G snp 79.77 0/1 99 14 9 5 0.36 exonic rs3745584 COL5A3 AU nonsynonymous SNV NM_015719 exon63 c.G4462C p.A1488P 0.366214 0.5337 0.225185 0.4859 0.6241 1 T 0.001 P -0.971 T 0.0 T 0.0 T Pathogenic 19_10077931_C->G 19 10077931 10077931 C G snp 201.77 0/1 99 16 8 8 0.5 intronic rs3786698 COL5A3 AU NM_015719 exon6 c.6936-91C>G 0.651957 0.5347 Uncertain 19_10078172_CACA->- 19 10078172 10078175 CACA - indel 1926.73 0/1 99 79 29 50 0.63 intronic rs3074540 COL5A3 AU NM_015719 exon6 c.6990+96_6990+99delCACA 0.132788 0.2173 Uncertain 19_10078208_C->T 19 10078208 10078208 C T snp 565.77 0/1 99 41 19 22 0.54 intronic rs2059144 COL5A3 AU NM_015719 exon6 c.6990+132C>T 0.133387 0.2202 Uncertain 19_10079013_G->C 19 10079013 10079013 G C snp 250.77 0/1 99 24 13 11 0.46 intronic rs3815747 COL5A3 AU NM_015719 exon9 c.7974-47G>C 0.307508 0.3482 0.306858 0.3197 0.3616 Uncertain 19_10079093_C->T 19 10079093 10079093 C T snp 1057.77 0/1 99 77 34 43 0.56 exonic rs3815746 COL5A3 AU nonsynonymous SNV NM_015719 exon59 c.G4282A p.V1428M 0.179712 0.2222 0.211979 0.1989 0.2424 0.24 T 0.003 P -1.061 T 0.015 T 0.004 T Pathogenic 19_10080410_C->G 19 10080410 10080410 C G snp 1957.77 0/1 99 193 113 80 0.41 intronic rs2277965 COL5A3 AU NM_015719 exon12 c.9272+52C>G 0.136581 0.2252 0.156534 0.1864 0.2540 Uncertain 19_10080619_-->G 19 10080619 10080619 - G indel 661.73 0/1 99 56 25 31 0.55 intronic rs397963794 COL5A3 AU NM_015719 exon13 c.9512+21insG 0.564097 0.5347 0.562859 0.5434 0.5649 Uncertain 19_10081193_T->A 19 10081193 10081193 T A snp 209.77 0/1 99 15 7 8 0.53 intronic rs62104327 COL5A3 AU NM_015719 exon14 c.10211-104T>A 0.373403 0.3006 Uncertain 19_10081200_T->G 19 10081200 10081200 T G snp 266.77 0/1 99 17 7 10 0.59 intronic rs62104328 COL5A3 AU NM_015719 exon14 c.10211-97T>G 0.374002 0.2976 Uncertain 19_10081276_C->G 19 10081276 10081276 C G snp 1187.77 0/1 99 84 37 47 0.56 intronic rs1895371 COL5A3 AU NM_015719 exon14 c.10211-21C>G 0.335663 0.3026 0.390152 0.5176 0.4831 Uncertain 19_10083874_G->T 19 10083874 10083874 G T snp 182.77 0/1 99 16 10 6 0.38 intronic rs12972760 COL5A3 AU NM_015719 exon17 c.12616+172G>T 0.18131 0.127 Uncertain 19_10084292_C->G 19 10084292 10084292 C G snp 2817.77 1/1 99 105 0 105 1.0 exonic rs2287813 COL5A3 AU nonsynonymous SNV NM_015719 exon50 c.G3620C p.R1207P 0.483626 0.3472 0.518145 0.4355 0.3523 1 T 0.635 P -0.960 T 0.0 T 0.0 T Pathogenic 19_10084422_C->T 19 10084422 10084422 C T snp 2373.77 0/1 99 185 88 97 0.52 intronic rs2287812 COL5A3 AU NM_015719 exon19 c.13345-9C>T 0.134385 0.2202 0.167795 0.1867 0.2340 Uncertain 19_10084551_T->G 19 10084551 10084551 T G snp 5633.77 1/1 99 209 0 209 1.0 intronic rs2287811 COL5A3 AU NM_015719 exon20 c.13508-43T>G 0.657748 0.5625 0.661233 0.5764 0.5850 Uncertain 19_10085054_G->A 19 10085054 10085054 G A snp 1744.77 0/1 99 110 42 68 0.62 exonic rs3815745 COL5A3 AU nonsynonymous SNV NM_015719 exon46 c.C3373T p.P1125S 0.145966 0.2202 0.180455 0.1939 0.2355 0.62 T 0.970 P -1.025 T 0.993 D 0.953 D Pathogenic 19_10087200_C->T 19 10087200 10087200 C T snp 413.77 0/1 99 39 22 17 0.44 intronic rs2287810 COL5A3 AU NM_015719 exon23 c.16147-33C>T 0.39996 0.3313 0.432287 0.4620 0.3909 Uncertain 19_10088271_C->G 19 10088271 10088271 C G snp 716.77 0/1 99 79 47 32 0.41 exonic rs2161468 COL5A3 AU nonsynonymous SNV NM_015719 exon42 c.G3125C p.R1042P 0.35024 0.3313 0.389897 0.3803 0.3362 1 T 0.000 P -1.047 T 0.018 T 0.001 T Pathogenic 19_10089262_G->A 19 10089262 10089262 G A snp 585.77 0/1 99 47 18 29 0.62 exonic rs12610207 COL5A3 AU synonymous SNV NM_015719 exon41 c.C3006T p.P1002P 0.648762 0.5466 0.661771 0.5779 0.5740 Uncertain 19_10089812_G->A 19 10089812 10089812 G A snp 904.77 0/1 99 68 27 41 0.6 exonic rs569536796 COL5A3 AU nonsynonymous SNV NM_015719 exon39 c.C2870T p.A957V 0.000199681 0.001 0.0002 0.0026 0.33 T 0.713 N -0.346 T 0.001 T 0.01 T Pathogenic 19_10090634_A->G 19 10090634 10090634 A G snp 274.77 0/1 99 27 13 14 0.52 intronic rs12609337 COL5A3 AU NM_015719 exon32 c.19583-35A>G 0.17512 0.2321 0.204905 0.2269 0.2347 Uncertain 19_10090649_A->G 19 10090649 10090649 A G snp 232.77 0/1 99 23 11 12 0.52 intronic rs11879687 COL5A3 AU NM_015719 exon32 c.19583-20A>G 0.353235 0.4315 0.335691 0.4006 0.4080 Uncertain 19_10091267_-->TCTC 19 10091267 10091267 - TCTC indel 765.73 0/1 99 32 18 14 0.44 intronic rs144086896 COL5A3 AU NM_015719 exon33 c.20237-56insTCTC Uncertain 19_10091295_CA->- 19 10091295 10091296 CA - indel 738.73 0/1 99 60 36 24 0.4 intronic rs71188870 COL5A3 AU NM_015719 exon33 c.20237-28_20237-27delCA 0.4828 0.4890 Uncertain 19_10093028_T->C 19 10093028 10093028 T C snp 143.03 1/1 12 5 0 5 1.0 intronic rs10412065 COL5A3 AU NM_015719 exon36 c.21708+234T>C 0.659545 0.5774 Uncertain 19_10096650_T->C 19 10096650 10096650 T C snp 1409.77 0/1 99 114 58 56 0.49 intronic rs1862474 COL5A3 AU NM_015719 exon37 c.25485+79T>C 0.245008 0.3611 Uncertain 19_10096686_G->A 19 10096686 10096686 G A snp 797.77 0/1 99 70 37 33 0.47 intronic rs1862473 COL5A3 AU NM_015719 exon37 c.25485+115G>A 0.661542 0.5546 Uncertain 19_10097187_-->C 19 10097187 10097187 - C indel 2578.73 0/1 99 166 72 94 0.57 intronic rs397779271 COL5A3 AU NM_015719 exon39 c.26142-41insC 0.476837 0.4444 0.3858 0.4872 Uncertain 19_10097443_-->AA 19 10097443 10097443 - AA indel 266.73 0/1 99 43 20 23 0.53 intronic rs111955359 COL5A3 AU NM_015719 exon40 c.26348+9insAA 0.236422 0.2173 0.2218 0.2381 Uncertain 19_10099744_C->T 19 10099744 10099744 C T snp 731.77 0/1 99 65 35 30 0.46 intronic rs11879755 COL5A3 AU NM_015719 exon41 c.28713-55C>T 0.44349 0.4444 0.427946 Uncertain 19_10099748_T->C 19 10099748 10099748 T C snp 772.77 0/1 99 65 35 30 0.46 intronic rs11883111 COL5A3 AU NM_015719 exon41 c.28713-51T>C 0.44349 0.4444 0.426408 Uncertain 19_10099910_C->T 19 10099910 10099910 C T snp 2219.77 0/1 99 213 115 98 0.46 intronic rs2287805 COL5A3 AU NM_015719 exon41 c.28767+57C>T 0.44349 0.4444 0.427946 Uncertain 19_10100061_C->A 19 10100061 10100061 C A snp 2838.77 0/1 99 250 129 121 0.48 intronic rs2287804 COL5A3 AU NM_015719 exon42 c.28956+19C>A 0.478035 0.4444 0.470321 0.3866 0.4867 Uncertain 19_10102567_G->A 19 10102567 10102567 G A snp 1197.77 0/1 99 84 39 45 0.54 intronic rs7251453 COL5A3 AU NM_015719 exon45 c.31431+50G>A 0.444888 0.4435 0.434184 0.3788 0.4869 Uncertain 19_10102676_A->G 19 10102676 10102676 A G snp 921.77 0/1 99 81 43 38 0.47 splicing rs7252953 COL5A3 AU NM_015719 exon46 c.31593-3A>G 0.479633 0.4435 0.470398 0.3865 0.4854 Pathogenic 19_10103583_C->T 19 10103583 10103583 C T snp 1710.77 0/1 99 147 74 73 0.5 intronic rs2010448 COL5A3 AU NM_015719 exon47 c.32470+27C>T 0.441294 0.4435 0.432108 0.3778 0.4878 Uncertain 19_10112346_T->C 19 10112346 10112346 T C snp 7513.77 1/1 99 250 0 250 1.0 exonic rs2287803 COL5A3 AU nonsynonymous SNV NM_015719 exon8 c.A964G p.R322G 0.929712 0.8056 0.976088 0.9513 0.8169 0.39 T 0.0 P -0.946 T 0.0 T 0.0 T Pathogenic 19_10114671_C->A 19 10114671 10114671 C A snp 3917.77 1/1 99 143 1 142 0.99 intronic rs2277962 COL5A3 AU NM_015719 exon63 c.43630-45C>A 0.0585064 0.2371 0.002076 0.0313 0.2347 Uncertain 19_10116076_G->C 19 10116076 10116076 G C snp 765.77 1/1 57 24 0 24 1.0 intronic rs11085529 COL5A3 AU NM_015719 exon64 c.45147-157G>C 0.920327 0.7629 Uncertain 19_10129262_T->C 19 10129262 10129262 T C snp 82.77 0/1 99 8 4 4 0.5 intronic rs1644733 RDH8 AU NM_015725 exon3 c.5293-144T>C 0.583666 0.5635 Uncertain 19_10129552_C->G 19 10129552 10129552 C G snp 1746.77 0/1 99 171 94 77 0.45 exonic rs1122206 RDH8 AU nonsynonymous SNV NM_015725 exon3 c.C468G p.H156Q 0.194289 0.0853 0.191527 0.1544 0.0686 0.09 T 0.999 P -1.135 T 0.999 D 0.995 D Pathogenic 19_10131866_A->T 19 10131866 10131866 A T snp 329.77 0/1 99 36 19 17 0.47 intronic rs2016307 RDH8 AU NM_015725 exon5 c.7817-64A>T 0.526757 0.4812 Uncertain 19_10131999_T->C 19 10131999 10131999 T C snp 1899.77 0/1 99 192 112 80 0.42 exonic rs1644731 RDH8 AU nonsynonymous SNV NM_015725 exon5 c.T665C p.M222T 0.589657 0.5635 0.509150 0.5202 0.5495 0.58 T 0.0 P -0.942 T 0.0 T 0.0 T Pathogenic 19_10149131_G->T 19 10149131 10149131 G T snp 464.77 0/1 99 51 30 21 0.41 downstream rs17210660 MIR5589 AU 0.246206 0.2133 0.4690 0.1111 Uncertain 19_10149207_G->A 19 10149207 10149207 G A snp 186.77 0/1 99 16 9 7 0.44 downstream rs57198581 MIR5589 AU 0.270966 0.2133 Uncertain 19_10149223_A->G 19 10149223 10149223 A G snp 153.77 0/1 99 10 5 5 0.5 downstream rs16997792 MIR5589 AU 0.58766 0.4137 Uncertain 19_10160578_C->T 19 10160578 10160578 C T snp 753.77 0/1 99 60 33 27 0.45 ncRNA_intronic rs11085554 C3P1 AU 0.266374 0.2083 Uncertain 19_10165844_G->A 19 10165844 10165844 G A snp 928.77 0/1 99 76 34 42 0.55 ncRNA_intronic rs60321046 C3P1 AU 0.271565 0.2123 Uncertain 19_10165854_T->C 19 10165854 10165854 T C snp 976.77 0/1 99 80 36 44 0.55 ncRNA_intronic rs56717463 C3P1 AU 0.273163 0.2123 Uncertain 19_10165932_A->G 19 10165932 10165932 A G snp 1055.77 0/1 99 77 36 41 0.53 ncRNA_exonic rs8113341 C3P1 AU 0.800919 0.5744 0.843755 0.7997 0.5988 Uncertain 19_10166114_A->G 19 10166114 10166114 A G snp 397.77 0/1 99 31 18 13 0.42 ncRNA_intronic rs10426597 C3P1 AU 0.272165 0.2123 Uncertain 19_10166233_C->T 19 10166233 10166233 C T snp 2937.77 0/1 99 250 138 112 0.45 ncRNA_intronic rs10405132 C3P1 AU 0.273163 0.2123 0.315887 0.3168 0.2160 Uncertain 19_10166243_G->T 19 10166243 10166243 G T snp 3010.77 0/1 99 250 139 111 0.44 ncRNA_intronic rs10403535 C3P1 AU 0.273163 0.2123 0.314464 0.3163 0.2159 Uncertain 19_10166253_T->C 19 10166253 10166253 T C snp 2840.77 0/1 99 250 137 113 0.45 ncRNA_intronic rs10411594 C3P1 AU 0.273163 0.2123 0.314643 0.3161 0.2162 Uncertain 19_10169245_A->G 19 10169245 10169245 A G snp 1270.77 0/1 99 118 62 56 0.47 ncRNA_exonic rs1993466 C3P1 AU 0.268371 0.2123 0.304073 0.3009 0.2169 Uncertain 19_10169261_C->T 19 10169261 10169261 C T snp 1496.77 0/1 99 133 67 66 0.5 ncRNA_exonic rs11667703 C3P1 AU 0.268371 0.2123 0.303936 0.3010 0.2167 Uncertain 19_10169278_T->G 19 10169278 10169278 T G snp 1701.77 0/1 99 147 71 76 0.52 ncRNA_exonic rs4552116 C3P1 AU 0.268371 0.2123 0.303907 0.3009 0.2166 Uncertain 19_10169477_G->A 19 10169477 10169477 G A snp 2481.77 0/1 99 168 65 103 0.61 ncRNA_intronic rs11667515 C3P1 AU 0.638179 0.4216 0.703983 0.6571 0.4551 Uncertain 19_10197488_-->C 19 10197488 10197488 - C indel 1272.73 0/1 99 58 23 35 0.6 intronic rs139505689 C19orf66 AU NM_018381 exon2 c.501-116insC 0.184105 0.2966 Uncertain 19_10218030_C->T 19 10218030 10218030 C T snp 441.77 1/1 33 15 0 15 1.0 intronic rs1551570 PPAN AU NM_020230 exon3 c.1110-150C>T 0.665535 0.7054 CLINSIG=other;CLNDBN=Cataplexy_and_narcolepsy;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000161130.1;CLNDSDB=MedGen:Orphanet:SNOMED_CT;CLNDSDBID=C0751362:ORPHA2073:193042000 Uncertain 19_10218332_A->G 19 10218332 10218332 A G snp 1603.77 0/1 99 151 67 84 0.56 ncRNA_exonic rs2305789 SNORD105 AU 0.188698 0.3423 0.120406 0.1649 0.4026 Uncertain 19_10218434_C->T 19 10218434 10218434 C T snp 1971.77 0/1 99 163 80 83 0.51 intronic rs55752217 PPAN AU NM_020230 exon4 c.1409-45C>T 0.364816 0.3462 0.372822 0.4173 0.3088 Uncertain 19_10218524_C->G 19 10218524 10218524 C G snp 1521.77 0/1 99 124 61 63 0.51 exonic rs2305791 PPAN AU synonymous SNV NM_001040664 exon4 c.C336G p.V112V 0.269768 0.3611 0.251462 0.3225 0.3308 Uncertain 19_10220616_G->A 19 10220616 10220616 G A snp 2450.77 0/1 99 203 102 101 0.5 exonic rs143244427 PPAN AU synonymous SNV NM_001040664 exon7 c.G618A p.A206A 0.0101837 0.0476 0.000077 0.0028 0.0362 Uncertain 19_10221151_C->G 19 10221151 10221151 C G snp 1342.77 0/1 99 124 65 59 0.48 intronic rs2305792 PPAN AU NM_020230 exon10 c.4090-9C>G 0.360823 0.3393 0.373672 0.4179 0.3058 Uncertain 19_10222558_G->T 19 10222558 10222558 G T snp 604.77 1/1 45 19 0 19 1.0 intronic rs2010353 P2RY11 AU NM_002566 exon1 c.19+142G>T 0.66873 0.6984 Uncertain 19_10224131_T->G 19 10224131 10224131 T G snp 37.77 0/1 66 4 2 2 0.5 intronic rs12462506 P2RY11 AU NM_002566 exon2 c.1911-177T>G 0.297324 0.3581 Uncertain 19_10224526_C->T 19 10224526 10224526 C T snp 3381.77 0/1 99 250 122 128 0.51 exonic rs3745600 P2RY11 AU nonsynonymous SNV NM_001198690 exon13 c.C1559T p.P520L 0.365415 0.3462 0.373942 0.4194 0.3130 0 D 1.000 P -0.895 T 0.0 T 0.002 T Pathogenic 19_10224548_G->A 19 10224548 10224548 G A snp 2907.77 0/1 99 243 127 116 0.48 exonic rs3745601 P2RY11 AU nonsynonymous SNV NM_002566 exon2 c.G259A p.A87T 0.182508 0.3304 0.112042 0.1592 0.4011 0.39 T 0.005 P -0.975 T 0.992 D 0.788 D ID=CM078823;DIS=Acute myocardial infarction, association with;TAG=DFP;PUB=17135283 DFP Pathogenic 19_10225777_A->G 19 10225777 10225777 A G snp 2527.77 0/1 99 211 99 112 0.53 UTR3 rs7401 EIF3G AU 0.367812 0.3502 0.375519 0.4192 0.3112 Uncertain 19_10226052_G->A 19 10226052 10226052 G A snp 2186.77 1/1 99 66 0 66 1.0 UTR3 rs2305795 P2RY11 AU 0.655551 0.6766 CLINSIG=other;CLNDBN=Cataplexy_and_narcolepsy;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000161132.1;CLNDSDB=MedGen:Orphanet:SNOMED_CT;CLNDSDBID=C0751362:ORPHA2073:193042000 ID=CR110373;DIS=Narcolepsy, association with;TAG=DP;PUB=21170044 DP Uncertain 19_10226256_A->G 19 10226256 10226256 A G snp 2293.77 0/1 99 179 90 89 0.5 exonic rs7710 EIF3G AU synonymous SNV NM_003755 exon10 c.T846C p.F282F 0.453874 0.371 0.437558 0.4457 0.3361 Uncertain 19_10226341_TGCC->- 19 10226341 10226344 TGCC - indel 5652.73 0/1 99 233 110 123 0.53 intronic rs150759321 EIF3G AU NM_003755 exon3 c.570-18_570-15delTGCC 0.372604 0.4156 0.3065 Uncertain 19_10229241_A->- 19 10229241 10229241 A - indel 87.73 0/1 41 24 6 18 0.75 intronic rs61403454 EIF3G AU NM_003755 exon7 c.3554-102delA 0.2692 0.2395 Uncertain 19_10229297_C->A 19 10229297 10229297 C A snp 1131.77 0/1 99 90 44 46 0.51 intronic rs11667630 EIF3G AU NM_003755 exon7 c.3554-46C>A 0.377196 0.3512 0.383823 0.4197 0.3097 Uncertain 19_10229521_C->T 19 10229521 10229521 C T snp 1161.77 0/1 99 123 71 52 0.42 intronic rs2290687 EIF3G AU NM_003755 exon8 c.3754-22C>T 0.398163 0.3512 0.400123 0.4264 0.3107 Uncertain 19_10229727_GGCAGTCCTCACTCACCTCCC->- 19 10229727 10229747 GGCAGTCCTCACTCACCTCCC - indel 7376.73 0/1 99 130 47 83 0.64 intronic rs149991692 EIF3G AU NM_003755 exon9 c.3974-36_3974-16delGGCAGTCCTCACTCACCTCCC 0.327476 0.3065 0.270286 0.3603 0.2769 Uncertain 19_10251747_A->G 19 10251747 10251747 A G snp 1175.77 0/1 99 76 34 42 0.55 intronic rs2290684 DNMT1 AD NM_001130823 exon11 c.7438-33A>G 0.471645 0.3542 0.508919 0.4838 0.3094 Uncertain 19_10260030_C->A 19 10260030 10260030 C A snp 41.77 0/1 66 6 3 3 0.5 intronic rs57366074 DNMT1 AD NM_001130823 exon16 c.15786-98C>A 0.226238 0.3671 Uncertain 19_10264886_AG->- 19 10264886 10264887 AG - indel 148.73 0/1 99 15 10 5 0.33 intronic rs34930749 DNMT1 AD NM_001130823 exon20 c.20626-82_20626-81delAG 0.198283 0.3681 ID=COSN168927;OCCURENCE=1(large_intestine) Uncertain 19_10265248_T->C 19 10265248 10265248 T C snp 1570.77 0/1 99 152 85 67 0.44 intronic rs2114724 DNMT1 AD NM_001130823 exon21 c.20919-13T>C 0.533347 0.6498 0.488236 0.5180 0.6924 Uncertain 19_10265312_T->C 19 10265312 10265312 T C snp 3974.77 1/1 99 139 0 139 1.0 exonic rs721186 DNMT1 AD synonymous SNV NM_001130823 exon21 c.A1782G p.T594T 0.995807 1 0.989697 0.9910 1 Uncertain 19_10267011_C->A 19 10267011 10267011 C A snp 1582.77 0/1 99 128 61 67 0.52 intronic rs4804490 DNMT1 AD NM_001130823 exon24 c.22724-55C>A 0.204273 0.3681 Uncertain 19_10267077_T->C 19 10267077 10267077 T C snp 2314.77 0/1 99 195 94 101 0.52 exonic rs2228611 DNMT1 AD synonymous SNV NM_001130823 exon18 c.A1389G p.P463P 0.533946 0.6488 0.491158 0.5188 0.6931 Uncertain 19_10267252_G->T 19 10267252 10267252 G T snp 654.77 0/1 99 56 27 29 0.52 intronic rs10421746 DNMT1 AD NM_001130823 exon24 c.22843+67G>T 0.222843 0.3681 Uncertain 19_10267266_C->A 19 10267266 10267266 C A snp 537.77 0/1 99 43 21 22 0.51 intronic rs10423341 DNMT1 AD NM_001130823 exon24 c.22843+81C>A 0.222644 0.3681 Uncertain 19_10270747_AA->- 19 10270747 10270748 AA - indel 2300.73 0/1 99 137 45 92 0.67 intronic rs59599980 DNMT1 AD NM_001130823 exon27 c.26397+8_26397+9delAA 0.203674 0.373 0.1390 0.4379 ID=COSM328005;OCCURENCE=1(pancreas) Uncertain 19_10271034_C->G 19 10271034 10271034 C G snp 3336.77 0/1 99 249 109 140 0.56 intronic rs2241531 DNMT1 AD NM_001130823 exon28 c.26717-25C>G 0.236022 0.4018 0.108719 0.1474 0.4680 Uncertain 19_10271141_A->C 19 10271141 10271141 A C snp 2317.77 0/1 99 171 78 93 0.54 intronic rs11672909 DNMT1 AD NM_001130823 exon28 c.26752+47A>C 0.199681 0.375 0.086345 0.1325 0.4329 Uncertain 19_10273372_T->C 19 10273372 10273372 T C snp 1189.77 0/1 99 128 74 54 0.42 exonic rs2228612 DNMT1 AD nonsynonymous SNV NM_001130823 exon13 c.A979G p.I327V 0.198283 0.3681 0.086268 0.1320 0.4216 0.31 T 0.0 P -1.092 T 0.0 T 0.0 T CLINSIG=non-pathogenic;CLNDBN=not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000124762.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Pathogenic 19_10279189_T->C 19 10279189 10279189 T C snp 111.77 0/1 99 7 3 4 0.57 intronic rs2162559 DNMT1 AD NM_001130823 exon32 c.34698+149T>C 0.536142 0.6468 Uncertain 19_10283932_C->T 19 10283932 10283932 C T snp 674.77 0/1 99 57 26 31 0.54 intronic rs2288350 DNMT1 AD NM_001130823 exon33 c.39508+82C>T 0.199081 0.369 Uncertain 19_10284778_A->G 19 10284778 10284778 A G snp 143.77 0/1 99 10 4 6 0.6 intronic rs759920 DNMT1 AD NM_001130823 exon34 c.40239+197A>G 0.537141 0.6478 Uncertain 19_10291181_T->C 19 10291181 10291181 T C snp 2170.77 0/1 99 184 99 85 0.46 exonic rs16999593 DNMT1 AD nonsynonymous SNV NM_001130823 exon4 c.A290G p.H97R 0.0451278 0.1835 0.001538 0.0217 0.2066 0.41 T 0.001 P -1.015 T 0.492 P 0.357 P Pathogenic 19_10334443_A->C 19 10334443 10334443 A C snp 56.74 1/1 6 2 0 2 1.0 UTR3 rs2116941 S1PR2 AR 0.772764 0.5595 Uncertain 19_10363455_-->T 19 10363455 10363455 - T indel 2597.73 1/1 99 68 0 68 1.0 intronic rs35087032 MRPL4 AU NM_015956 exon3 c.448+78insT 0.177316 0.2282 Uncertain 19_10370542_C->T 19 10370542 10370542 C T snp 3217.75 1/1 99 103 0 103 1.0 UTR3 rs11115 MRPL4 AU 0.368211 0.3323 Uncertain 19_10395683_A->G 19 10395683 10395683 A G snp 3791.77 1/1 99 117 0 117 1.0 exonic rs5498 ICAM1 AU nonsynonymous SNV NM_000201 exon6 c.A1405G p.K469E 0.358826 0.2788 0.350377 0.4281 0.2882 1 T 0.0 P -0.921 T 0.0 T 0.0 T ID=CM003891;DIS=Behcet's disease, association with;TAG=DFP;PUB=10792421 DFP Pathogenic 19_10402131_T->C 19 10402131 10402131 T C snp 3237.77 1/1 99 114 0 114 1.0 intronic rs901886 ICAM5 AU NM_003259 exon3 c.1445-33T>C 0.374002 0.3165 0.343356 0.4739 0.3404 Uncertain 19_10402938_G->A 19 10402938 10402938 G A snp 3156.77 1/1 99 111 0 111 1.0 exonic rs1056538 ICAM5 AU nonsynonymous SNV NM_003259 exon4 c.G901A p.V301I 0.289537 0.2371 0.290757 0.3829 0.2499 0.28 T 0.001 P -0.951 T 0.006 T 0.006 T Pathogenic 19_10403368_G->A 19 10403368 10403368 G A snp 6307.77 1/1 99 239 1 238 1.0 exonic rs2228615 ICAM5 AU nonsynonymous SNV NM_003259 exon5 c.G1042A p.A348T 0.289337 0.2371 0.290866 0.3769 0.2423 0.09 T 0.0 P -0.939 T 0.002 T 0.004 T ID=CM065278;DIS=Colorectal cancer, increased risk, association with;TAG=DP;PUB=17000706 DP Pathogenic 19_10403947_T->C 19 10403947 10403947 T C snp 1609.77 1/1 99 55 0 55 1.0 intronic rs2569702 ICAM5 AU NM_003259 exon6 c.3203+25T>C 0.303315 0.247 0.281914 0.3831 0.2551 Uncertain 19_10404227_C->G 19 10404227 10404227 C G snp 1667.77 1/1 99 42 0 42 1.0 intronic rs2569703 ICAM5 AU NM_003259 exon7 c.3654-146C>G 0.51897 0.3442 Uncertain 19_10405906_-->T 19 10405906 10405906 - T indel 1320.73 1/1 60 34 1 33 0.97 intronic rs34124276 ICAM5 AU NM_003259 exon10 c.5302-115insT 0.290335 0.2371 Uncertain 19_10407169_G->C 19 10407169 10407169 G C snp 1500.77 1/1 99 55 0 55 1.0 exonic rs710845 ICAM5 AU synonymous SNV NM_003259 exon11 c.G2652C p.L884L 0.510583 0.3313 0.628528 0.5636 0.3316 Uncertain 19_10418838_G->A 19 10418838 10418838 G A snp 1311.77 1/1 96 54 0 54 1.0 intronic rs35063123 ZGLP1 AU NM_001103167 exon4 c.3094-22G>A 0.173123 0.1964 0.124878 0.1831 0.2046 Uncertain 19_10419468_C->T 19 10419468 10419468 C T snp 175.9 1/1 15 5 0 5 1.0 UTR5 rs55905227 ZGLP1 AU 0.179313 0.1964 Uncertain 19_10425986_A->G 19 10425986 10425986 A G snp 340.78 1/1 27 11 0 11 1.0 intronic rs368835 FDX1L AU NM_001031734 exon3 c.4900-75A>G 0.775559 0.4395 Uncertain 19_10425995_G->T 19 10425995 10425995 G T snp 274.9 0/1 15 12 2 10 0.83 intronic rs2358583 FDX1L AU NM_001031734 exon3 c.4900-66G>T 0.641374 0.4058 Uncertain 19_10426024_T->G 19 10426024 10426024 T G snp 1476.77 1/1 99 42 0 42 1.0 intronic rs1124765 FDX1L AU NM_001031734 exon3 c.4900-37T>G 0.223642 0.2381 0.165948 0.3192 0.3703 Uncertain 19_10426422_A->C 19 10426422 10426422 A C snp 2302.77 1/1 99 74 0 74 1.0 exonic rs378395 FDX1L AU synonymous SNV NM_001031734 exon2 c.T168G p.A56A 0.492812 0.3403 0.468745 0.5676 0.4950 Uncertain 19_10426628_T->C 19 10426628 10426628 T C snp 5141.77 1/1 99 189 3 186 0.98 exonic rs395782 FDX1L AU synonymous SNV NM_001031734 exon1 c.A54G p.L18L 0.492812 0.3403 0.513617 0.4894 0.3486 Uncertain 19_10428790_C->T 19 10428790 10428790 C T snp 408.77 1/1 33 13 0 13 1.0 intronic rs12459144 RAVER1 AU NM_133452 exon3 c.775-114C>T 0.217851 0.2381 Uncertain 19_10429120_T->C 19 10429120 10429120 T C snp 2474.77 1/1 99 80 0 80 1.0 intronic rs281427 RAVER1 AU NM_133452 exon3 c.919+72T>C 0.775759 0.4415 Uncertain 19_10431300_-->G 19 10431300 10431300 - G indel 2579.73 1/1 99 70 0 70 1.0 intronic rs34942709 RAVER1 AU NM_133452 exon5 c.3201-30insG 0.195887 0.1974 0.149931 0.2293 0.2926 Uncertain 19_10432334_T->G 19 10432334 10432334 T G snp 5769.77 1/1 99 222 0 222 1.0 intronic rs12983649 RAVER1 AU NM_133452 exon7 c.4165+40T>G 0.171925 0.1974 0.114290 0.1844 0.2054 Uncertain 19_10445370_G->T 19 10445370 10445370 G T snp 1799.77 0/1 99 163 83 80 0.49 exonic ICAM3 AU synonymous SNV NM_002162 exon5 c.C1026A p.V342V Uncertain 19_10449392_A->G 19 10449392 10449392 A G snp 1384.77 0/1 99 105 49 56 0.53 exonic rs2304240 ICAM3 AU synonymous SNV NM_002162 exon2 c.T309C p.S103S 0.828275 0.8254 0.860757 0.8173 0.8319 Uncertain 19_10464687_A->G 19 10464687 10464687 A G snp 1354.77 0/1 99 101 47 54 0.53 intronic rs280497 TYK2 AR NM_003331 exon6 c.3208-30A>G 0.578275 0.6419 0.552453 0.5333 0.6412 Uncertain 19_10469919_G->A 19 10469919 10469919 G A snp 846.77 0/1 99 85 45 40 0.47 exonic rs55882956 TYK2 AR nonsynonymous SNV NM_003331 exon15 c.C2107T p.R703W 0.00798722 0.0248 0.001230 0.0071 0.0340 0 D 0.962 D -0.445 T 1.0 D 0.958 D Pathogenic 19_10472933_A->G 19 10472933 10472933 A G snp 905.77 0/1 99 87 50 37 0.43 intronic rs280519 TYK2 AR NM_003331 exon15 c.11430-6A>G 0.533147 0.6062 0.526449 0.5082 0.5940 Uncertain 19_10473138_A->G 19 10473138 10473138 A G snp 3287.77 1/1 99 115 0 115 1.0 splicing rs280520 TYK2 AR NM_003331 exon15 c.11623+6A>G 0.329872 0.4256 0.273049 0.3217 0.4631 CLINSIG=non-pathogenic;CLNDBN=not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000126191.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Pathogenic 19_10475652_C->A 19 10475652 10475652 C A snp 2871.77 0/1 99 226 106 120 0.53 exonic rs2304256 TYK2 AR nonsynonymous SNV NM_003331 exon8 c.G1084T p.V362F 0.265775 0.5238 0.224589 0.2768 0.5187 0.05 T 0.0 P -0.915 T 0.421 T 0.097 T ID=CM050351;DIS=Systemic lupus erythematosus, susceptibility association with;TAG=DP;PUB=15657875 DP Pathogenic 19_10475760_G->A 19 10475760 10475760 G A snp 1408.77 0/1 99 97 39 58 0.6 intronic rs12720270 TYK2 AR NM_003331 exon18 c.14215+36G>A 0.207668 0.5 0.144164 0.2260 0.4965 Uncertain 19_10477067_A->G 19 10477067 10477067 A G snp 375.77 0/1 99 30 14 16 0.53 intronic rs34725611 TYK2 AR NM_003331 exon20 c.15583-25A>G 0.269369 0.5288 0.225434 0.2804 0.5188 Uncertain 19_10501740_A->G 19 10501740 10501740 A G snp 246.77 0/1 99 20 12 8 0.4 downstream rs12611227 CDC37 AU 0.357029 0.5407 Uncertain 19_10571793_G->A 19 10571793 10571793 G A snp 565.77 0/1 99 47 20 27 0.57 intronic rs144860215 PDE4A AU NM_001111308 exon11 c.30259+14G>A 0.0091853 0.0288 0.000077 0.0064 0.0348 Uncertain 19_10599965_G->A 19 10599965 10599965 G A snp 1767.77 0/1 99 136 60 76 0.56 exonic rs11545829 KEAP1 AU synonymous SNV NM_203500 exon5 c.C1611T p.Y537Y 0.0816693 0.2986 0.003306 0.0388 0.2885 Uncertain 19_10600442_G->C 19 10600442 10600442 G C snp 1171.77 0/1 99 104 54 50 0.48 exonic rs1048290 KEAP1 AU synonymous SNV NM_203500 exon4 c.C1413G p.L471L 0.508187 0.5337 0.478010 0.4203 0.5254 Uncertain 19_10602180_A->C 19 10602180 10602180 A C snp 267.8 1/1 21 8 0 8 1.0 intronic rs11085735 KEAP1 AU NM_012289 exon4 c.4925-72A>C 0.938099 0.999 Uncertain 19_10625067_A->C 19 10625067 10625067 A C snp 2422.77 0/1 99 250 153 97 0.39 exonic rs6511701 S1PR5 AU synonymous SNV NM_001166215 exon2 c.T621G p.A207A 0.814297 0.7847 0.778445 0.8109 0.7818 Uncertain 19_10659737_C->T 19 10659737 10659737 C T snp 4245.77 1/1 99 150 0 150 1.0 intronic rs12979378 ATG4D AU NM_032885 exon6 c.4944+27C>T 0.128794 0.1012 0.178994 0.2068 0.0995 Uncertain 19_10665101_C->T 19 10665101 10665101 C T snp 239.77 0/1 99 14 4 10 0.71 intronic rs79724601 KRI1 AU NM_023008 exon1 c.331+144C>T 0.00878594 0.0417 Uncertain 19_10665691_T->C 19 10665691 10665691 T C snp 625.77 1/1 48 19 0 19 1.0 intronic rs10419405 KRI1 AU NM_023008 exon2 c.1136-71T>C 0.690096 0.9395 Uncertain 19_10665912_-->CCGCCCTGCCCGCAGCGCACCTGGCT 19 10665912 10665912 - CCGCCCTGCCCGCAGCGCACCTGGCT indel 21505.7 1/1 99 98 0 98 1.0 intronic rs6146467 KRI1 AU NM_023008 exon3 c.1334-48insCCGCCCTGCCCGCAGCGCACCTGGCT 0.646765 0.8621 0.6800 0.9459 Uncertain 19_10668383_T->C 19 10668383 10668383 T C snp 7934.77 1/1 99 250 0 250 1.0 intronic rs3745256 KRI1 AU NM_023008 exon4 c.3732+25T>C 0.316094 0.2163 0.381286 0.4056 0.2216 Uncertain 19_10668452_A->G 19 10668452 10668452 A G snp 6584.77 1/1 99 215 0 215 1.0 exonic rs3745255 KRI1 AU synonymous SNV NM_023008 exon15 c.T1497C p.F499F 0.69389 0.9395 0.597154 0.6943 0.9573 Uncertain 19_10668953_G->A 19 10668953 10668953 G A snp 3247.77 1/1 99 116 0 116 1.0 intronic rs875569 KRI1 AU NM_023008 exon7 c.4289+38G>A 0.320487 0.2401 0.380440 0.4068 0.2503 Uncertain 19_10669032_T->C 19 10669032 10669032 T C snp 878.77 1/1 66 25 0 25 1.0 intronic rs892084 KRI1 AU NM_023008 exon7 c.4289+117T>C 0.695288 0.9395 Uncertain 19_10670794_G->A 19 10670794 10670794 G A snp 54.74 1/1 6 2 0 2 1.0 intronic rs3745250 KRI1 AU NM_023008 exon10 c.5986+182G>A 0.320687 0.2411 Uncertain 19_10670992_C->T 19 10670992 10670992 C T snp 3166.77 1/1 99 122 0 122 1.0 exonic rs3745249 KRI1 AU nonsynonymous SNV NM_023008 exon9 c.G814A p.E272K 0.321086 0.2411 0.381901 0.4368 0.2689 0.36 T 0.0 P -0.937 T 0.003 T 0.005 T Pathogenic 19_10672493_C->T 19 10672493 10672493 C T snp 2030.77 1/1 99 72 1 71 0.99 exonic rs12984043 KRI1 AU nonsynonymous SNV NM_023008 exon5 c.G430A p.G144R 0.261581 0.2034 0.309165 0.3376 0.2168 0.41 T 0.012 P -0.932 T 0.05 T 0.005 T Pathogenic 19_10676343_A->T 19 10676343 10676343 A T snp 1513.77 1/1 99 57 0 57 1.0 intronic rs3745246 KRI1 AU NM_023008 exon18 c.11766-49A>T 0.60623 0.3472 0.753836 0.6404 0.3647 Uncertain 19_10676423_G->A 19 10676423 10676423 G A snp 3708.77 1/1 99 135 0 135 1.0 exonic rs3745245 KRI1 AU synonymous SNV NM_023008 exon2 c.C156T p.S52S 0.60603 0.3472 0.746719 0.7088 0.4731 Uncertain 19_10676487_-->CC 19 10676487 10676487 - CC indel 6219.73 1/1 99 195 0 195 1.0 intronic rs34864064 KRI1 AU NM_023008 exon18 c.11840+21insCC 0.390375 0.2351 0.3039 0.1905 Uncertain 19_10676681_T->C 19 10676681 10676681 T C snp 989.77 1/1 72 30 0 30 1.0 exonic rs3218222 KRI1 AU nonsynonymous SNV NM_023008 exon1 c.A13G p.T5A 0.604233 0.3353 0.802828 0.6128 0.4091 0.005 P -1.059 T 0.0 T 0.0 T Pathogenic 19_10679068_AGA->- 19 10679068 10679070 AGA - indel 1750.73 1/1 93 31 0 31 1.0 intronic rs3029839 CDKN2D AU NM_079421 exon2 c.1455-120_1455-118delAGA 0.594249 0.3075 Uncertain 19_10679240_C->G 19 10679240 10679240 C G snp 2623.77 1/1 99 94 0 94 1.0 exonic rs1968445 CDKN2D AU synonymous SNV NM_001800 exon1 c.G90C p.R30R 0.972444 0.997 0.965365 0.9601 0.9974 Uncertain 19_10685859_G->C 19 10685859 10685859 G C snp 1720.77 1/1 99 56 0 56 1.0 intronic rs1560712 AP1M2 AU NM_005498 exon3 c.1964+154G>C 0.972444 0.997 Uncertain 19_10687757_T->C 19 10687757 10687757 T C snp 396.77 1/1 30 11 0 11 1.0 intronic rs7252007 AP1M2 AU NM_005498 exon4 c.4132-116T>C 0.922324 0.996 Uncertain 19_10690321_C->T 19 10690321 10690321 C T snp 511.77 1/1 39 16 0 16 1.0 intronic rs73018660 AP1M2 AU NM_005498 exon6 c.6650-70C>T 0.148163 0.0685 Uncertain 19_10690557_G->C 19 10690557 10690557 G C snp 1618.77 1/1 99 60 0 60 1.0 intronic rs10426276 AP1M2 AU NM_001300887 exon6 c.6799+17G>C 0.972644 0.997 0.963508 0.9566 0.9986 Uncertain 19_10697773_A->G 19 10697773 10697773 A G snp 3073.77 1/1 99 116 0 116 1.0 intronic rs75323740 AP1M2 AU NM_005498 exon12 c.14124-92A>G 0.147564 0.0685 Uncertain 19_10697801_G->T 19 10697801 10697801 G T snp 3774.77 1/1 99 155 1 154 0.99 intronic rs75192074 AP1M2 AU NM_005498 exon12 c.14124-64G>T 0.147764 0.0685 0.234560 Uncertain 19_10738639_C->T 19 10738639 10738639 C T snp 1293.77 0/1 99 136 79 57 0.42 exonic rs3087969 SLC44A2 AU synonymous SNV NM_020428 exon4 c.C204T p.D68D 0.786542 0.7103 0.804706 0.7932 0.6874 Uncertain 19_10741622_A->G 19 10741622 10741622 A G snp 76.77 0/1 99 19 12 7 0.37 intronic rs12710257 SLC44A2 AU NM_001145056 exon5 c.28526-110A>G 0.792133 0.7103 Uncertain 19_10741681_-->A 19 10741681 10741681 - A indel 165.73 0/1 99 42 26 16 0.38 intronic rs397949403 SLC44A2 AU NM_001145056 exon5 c.28526-51insA 0.463858 0.4544 Uncertain 19_10741907_A->G 19 10741907 10741907 A G snp 2298.77 0/1 99 235 138 97 0.41 intronic rs12972963 SLC44A2 AU NM_001145056 exon6 c.28744-43A>G 0.786342 0.7113 0.804629 0.7938 0.6924 Uncertain 19_10742170_A->G 19 10742170 10742170 A G snp 1660.77 0/1 99 145 75 70 0.48 exonic rs2288904 SLC44A2 AU nonsynonymous SNV NM_020428 exon7 c.A461G p.Q154R 0.817292 0.7103 0.836460 0.8041 0.6909 1 T 0.0 P -0.984 T 0.0 T 0.001 T ID=CM109047;DIS=Transfusion-related acute lung injury;TAG=DFP;PUB=20037594 DFP Pathogenic 19_10742287_C->T 19 10742287 10742287 C T snp 2330.77 0/1 99 204 107 97 0.48 intronic rs1560711 SLC44A2 AU NM_001145056 exon8 c.29095-14C>T 0.790735 0.7103 0.806781 0.7935 0.6890 Uncertain 19_10742443_C->T 19 10742443 10742443 C T snp 2967.77 0/1 99 250 125 125 0.5 intronic rs1560710 SLC44A2 AU NM_001145056 exon8 c.29219+18C>T 0.788938 0.7113 0.806705 0.7942 0.6904 Uncertain 19_10742463_G->T 19 10742463 10742463 G T snp 3124.77 0/1 99 250 120 130 0.52 intronic rs1560709 SLC44A2 AU NM_001145056 exon8 c.29219+38G>T 0.789137 0.7113 0.806858 0.7941 0.6895 Uncertain 19_10745764_T->C 19 10745764 10745764 T C snp 2625.77 0/1 99 250 140 110 0.44 intronic rs2163832 SLC44A2 AU NM_001145056 exon12 c.32543+15T>C 0.770767 0.7044 0.751422 0.7263 0.6842 Uncertain 19_10748820_T->C 19 10748820 10748820 T C snp 1829.77 0/1 99 130 63 67 0.52 intronic rs3859514 SLC44A2 AU NM_001145056 exon19 c.35563+51T>C 0.677716 0.6538 0.671613 0.6758 0.6488 Uncertain 19_10751769_-->A 19 10751769 10751769 - A indel 85.73 0/1 99 19 9 10 0.53 intronic rs111569642 SLC44A2 AU NM_001145056 exon21 c.39836-1273insA 0.692292 0.6528 0.5002 0.4904 Uncertain 19_10752968_A->G 19 10752968 10752968 A G snp 1466.77 0/1 99 109 46 63 0.58 intronic rs10405617 SLC44A2 AU NM_001145056 exon21 c.39836-74A>G 0.774361 0.7113 Uncertain 19_10792096_C->T 19 10792096 10792096 C T snp 148.77 0/1 99 16 10 6 0.38 intronic rs117534390 ILF3 AU NM_012218 exon11 c.10724+91C>T 0.00399361 0.0198 Uncertain 19_10793749_A->G 19 10793749 10793749 A G snp 903.77 0/1 99 61 24 37 0.61 intronic rs2738039 ILF3 AU NM_017620 exon14 c.12519-51A>G 0.76857 0.7063 Uncertain 19_10794630_G->T 19 10794630 10794630 G T snp 2839.77 0/1 99 250 136 114 0.46 exonic rs2229383 ILF3 AU synonymous SNV NM_001137673 exon17 c.G2055T p.S685S 0.663738 0.6429 0.659696 0.6731 0.6414 Uncertain 19_10794793_C->T 19 10794793 10794793 C T snp 437.77 0/1 99 19 6 13 0.68 intronic rs892087 ILF3 AU NM_012218 exon17 c.13365+147C>T 0.572484 0.37 Uncertain 19_10818092_G->A 19 10818092 10818092 G A snp 2364.77 0/1 99 211 118 93 0.44 intronic rs892085 QTRT1 AU NM_031209 exon4 c.5920+36G>A 0.554912 0.3641 0.600338 0.5720 0.3300 Uncertain 19_10883126_C->G 19 10883126 10883126 C G snp 1390.77 0/1 99 112 56 56 0.5 intronic rs3826803 DNM2 AR,AD NM_004945 exon3 c.54236-28C>G 0.557109 0.4613 0.566354 0.5528 0.4493 Uncertain 19_10916684_C->T 19 10916684 10916684 C T snp 2074.77 0/1 99 177 90 87 0.49 intronic rs2287029 DNM2 AR,AD NM_004945 exon13 c.87725+41C>T 0.110224 0.1657 0.129402 0.1449 0.1571 Uncertain 19_10939792_T->C 19 10939792 10939792 T C snp 2121.77 0/1 99 178 86 92 0.52 exonic rs2229920 DNM2 AR,AD synonymous SNV NM_001005360 exon19 c.T2139C p.A713A 0.338259 0.5595 0.280793 0.3115 0.5759 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000145914.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 19_10961273_G->A 19 10961273 10961273 G A snp 1839.77 0/1 99 171 89 82 0.48 intronic rs11085749 C19orf38 AU NM_001136482 exon2 c.2059+30G>A 0.391573 0.5476 0.351511 0.3858 0.5412 Uncertain 19_10970558_A->G 19 10970558 10970558 A G snp 1165.77 1/1 84 43 0 43 1.0 intronic rs8100581 C19orf38 AU NM_001136482 exon5 c.11406-32A>G 0.94988 1 0.897503 0.9121 0.9984 Uncertain 19_11038843_G->C 19 11038843 11038843 G C snp 918.77 1/1 69 24 0 24 1.0 intronic rs892010 YIPF2 AU NM_024029 exon8 c.4669+208G>C 0.98103 1 Uncertain 19_11129429_C->G 19 11129429 11129429 C G snp 110.77 0/1 99 8 4 4 0.5 intronic rs10417443 SMARCA4 AD NM_001128849 exon17 c.34805-203C>G 0.716054 0.8065 Uncertain 19_11130139_C->T 19 11130139 11130139 C T snp 71.77 0/1 99 9 6 3 0.33 intronic SMARCA4 AD NM_001128849 exon18 c.35439-127C>T Uncertain 19_11221454_T->C 19 11221454 11221454 T C snp 7703.77 1/1 99 250 0 250 1.0 intronic rs2738442 LDLR AD NM_001195798 exon7 c.21223+7T>C 1 1 0.9999 1 Uncertain 19_11230651_AAAC->- 19 11230651 11230654 AAAC - indel 1545.73 1/1 78 26 0 26 1.0 intronic rs140888317 LDLR AD NM_001195798 exon13 c.30543-116_30543-113delAAAC Uncertain 19_11233678_G->C 19 11233678 11233678 G C snp 54.74 1/1 6 2 0 2 1.0 intronic rs2738454 LDLR AD NM_001195798 exon15 c.33625-171G>C 0.217053 0.3919 Uncertain 19_11233941_A->G 19 11233941 11233941 A G snp 4712.77 1/1 99 178 0 178 1.0 exonic rs5927 LDLR AD synonymous SNV NM_000527 exon15 c.A2232G p.R744R 0.780152 0.9554 0.738736 0.7762 0.9512 Uncertain 19_11238473_A->C 19 11238473 11238473 A C snp 548.77 1/1 42 17 0 17 1.0 intronic rs2738459 LDLR AD NM_001195798 exon16 c.38459-210A>C 0.574081 0.7212 Uncertain 19_11238548_A->G 19 11238548 11238548 A G snp 2378.77 1/1 99 81 0 81 1.0 intronic rs2569538 LDLR AD NM_001195798 exon16 c.38459-135A>G 0.856629 0.9256 Uncertain 19_11238807_C->T 19 11238807 11238807 C T snp 2095.77 1/1 99 74 0 74 1.0 intronic rs2738460 LDLR AD NM_001195798 exon16 c.38537+46C>T 0.231829 0.4127 0.220437 0.2476 0.3929 Uncertain 19_11241780_G->A 19 11241780 11241780 G A snp 52.74 1/1 6 2 0 2 1.0 intronic rs2116899 LDLR AD NM_001195803 exon16 c.41732-176G>A 0.229832 0.4107 Uncertain 19_11241810_G->A 19 11241810 11241810 G A snp 469.77 1/1 36 12 0 12 1.0 intronic rs2116898 LDLR AD NM_001195803 exon16 c.41732-146G>A 0.229633 0.4107 Uncertain 19_11241877_G->A 19 11241877 11241877 G A snp 1872.77 1/1 99 66 0 66 1.0 intronic rs2116897 LDLR AD NM_001195803 exon16 c.41732-79G>A 0.234026 0.4107 0.222076 Uncertain 19_11242044_G->A 19 11242044 11242044 G A snp 4029.77 1/1 99 147 2 145 0.99 UTR3 rs14158 LDLR AD 0.233626 0.4107 0.216997 0.2464 0.3941 Uncertain 19_11242307_G->C 19 11242307 11242307 G C snp 120.03 1/1 12 4 0 4 1.0 UTR3 rs2738464 LDLR AD 0.751997 0.7331 0.8424 0.7833 Uncertain 19_11258585_AAAAAAA->- 19 11258585 11258591 AAAAAAA - indel 2515.73 0/1 99 96 20 76 0.79 intronic rs58845884 SPC24 AU NM_182513 exon2 c.712+15_712+21delAAAAAAA 0.0537 0.2897 Uncertain 19_11285390_G->A 19 11285390 11285390 G A snp 401.77 0/1 99 24 10 14 0.58 intronic rs440677 KANK2 AR NM_001136191 exon5 c.8135+22G>A 0.513778 0.3581 0.588131 0.6098 0.4328 Uncertain 19_11286705_G->A 19 11286705 11286705 G A snp 1576.77 0/1 99 142 72 70 0.49 intronic rs11880059 KANK2 AR NM_001136191 exon6 c.9432+40G>A 0.108427 0.2083 0.078502 0.0665 0.2336 Uncertain 19_11303460_C->- 19 11303460 11303460 C - indel 4452.73 1/1 99 173 4 169 0.98 intronic rs35706290 KANK2 AR NM_001136191 exon10 c.26273-46delC 0.466454 0.626 0.5585 0.6351 Uncertain 19_11303469_C->G 19 11303469 11303469 C G snp 2158.77 0/1 99 200 108 92 0.46 intronic rs7254270 KANK2 AR NM_001136191 exon10 c.26273-37C>G 0.466454 0.626 0.3244 0.4678 Uncertain 19_11303943_A->G 19 11303943 11303943 A G snp 3889.77 1/1 99 135 0 135 1.0 exonic rs3745681 KANK2 AR synonymous SNV NM_001136191 exon4 c.T813C p.V271V 0.505391 0.4514 0.458661 0.4309 0.4249 Uncertain 19_11310920_C->T 19 11310920 11310920 C T snp 383.77 1/1 30 11 0 11 1.0 intronic rs8101345 DOCK6 AR NM_020812 exon2 c.811-63C>T 0.527955 0.5754 Uncertain 19_11311205_A->- 19 11311205 11311205 A - indel 2569.73 0/1 99 151 80 71 0.47 intronic rs3214470 DOCK6 AR NM_020812 exon2 c.973+60delA 0.0405351 0.1835 Uncertain 19_11313256_G->A 19 11313256 11313256 G A snp 2759.77 0/1 99 250 134 116 0.46 splicing rs3745682 DOCK6 AR NM_020812 exon7 c.3087-3G>A 0.360623 0.37 0.340606 0.3929 0.3712 Pathogenic 19_11314748_C->T 19 11314748 11314748 C T snp 380.77 0/1 99 22 8 14 0.64 intronic rs117890966 DOCK6 AR NM_020812 exon8 c.4584-8C>T 0.0421326 0.0694 0.044306 0.0713 0.0677 Uncertain 19_11319236_T->C 19 11319236 11319236 T C snp 345.77 0/1 99 39 24 15 0.38 intronic rs12461903 DOCK6 AR NM_020812 exon10 c.9189-125T>C 0.0646965 0.1974 Uncertain 19_11319636_G->A 19 11319636 11319636 G A snp 1922.77 0/1 99 164 83 81 0.49 exonic rs117328686 DOCK6 AR nonsynonymous SNV NM_020812 exon38 c.C4895T p.A1632V 0.0638978 0.1796 0.010391 0.0367 0.1795 0.06 T 0.651 P -1.043 T 0.028 T 0.052 T Pathogenic 19_11323671_C->T 19 11323671 11323671 C T snp 50.74 1/1 6 2 0 2 1.0 intronic rs112685241 DOCK6 AR NM_020812 exon14 c.13679-180C>T 0.152955 0.0645 Uncertain 19_11324890_T->C 19 11324890 11324890 T C snp 820.77 0/1 99 67 32 35 0.52 intronic rs12609620 DOCK6 AR NM_020812 exon15 c.14778-60T>C 0.59345 0.5784 Uncertain 19_11326629_C->A 19 11326629 11326629 C A snp 1948.77 1/1 99 76 0 76 1.0 intronic rs10403991 DOCK6 AR NM_020812 exon18 c.16431+26C>A 0.9998 1 0.999001 0.9996 1 Uncertain 19_11327608_T->C 19 11327608 11327608 T C snp 1735.77 0/1 99 153 76 77 0.5 exonic rs4804151 DOCK6 AR synonymous SNV NM_020812 exon30 c.A3876G p.L1292L 0.59345 0.5794 0.680429 0.6476 0.5920 Uncertain 19_11327626_A->G 19 11327626 11327626 A G snp 1982.77 0/1 99 169 83 86 0.51 exonic rs4804152 DOCK6 AR synonymous SNV NM_020812 exon30 c.T3858C p.D1286D 0.579473 0.5784 0.663248 0.6436 0.5918 Uncertain 19_11332570_T->A 19 11332570 11332570 T A snp 3285.77 0/1 99 247 114 133 0.54 exonic rs3810307 DOCK6 AR synonymous SNV NM_020812 exon28 c.A3507T p.L1169L 0.313498 0.2986 0.285533 0.2433 0.3385 Uncertain 19_11333787_G->A 19 11333787 11333787 G A snp 358.77 0/1 99 40 22 18 0.45 splicing rs3810309 DOCK6 AR NM_020812 exon24 c.23610+5G>A 0.0567093 0.1706 0.009330 0.0270 0.1468 Pathogenic 19_11346252_A->C 19 11346252 11346252 A C snp 2301.77 0/1 99 229 126 103 0.45 intronic rs6511729 DOCK6 AR NM_020812 exon28 c.36101-21A>C 0.383786 0.3075 0.348029 0.3599 0.4270 Uncertain 19_11347598_T->C 19 11347598 11347598 T C snp 1181.77 0/1 99 103 51 52 0.5 intronic rs78327524 DOCK6 AR NM_020812 exon30 c.37383+43T>C 0.0383387 0.0685 0.046902 0.0680 0.0700 Uncertain 19_11348098_G->A 19 11348098 11348098 G A snp 486.77 0/1 99 40 19 21 0.53 intronic rs34301174 DOCK6 AR NM_020812 exon31 c.37959-33G>A 0.222843 0.2272 0.197971 0.2584 0.1757 Uncertain 19_11348911_A->G 19 11348911 11348911 A G snp 1350.77 0/1 99 97 48 49 0.51 exonic rs7252937 DOCK6 AR synonymous SNV NM_020812 exon15 c.T1713C p.A571A 0.177316 0.0804 0.184265 0.0997 0.0878 Uncertain 19_11348960_G->A 19 11348960 11348960 G A snp 1061.77 0/1 99 72 31 41 0.57 exonic rs12609039 DOCK6 AR nonsynonymous SNV NM_020812 exon15 c.C1664T p.P555L 0.0391374 0.0704 0.054237 0.0717 0.0994 0 D 1 D -0.914 T 1.0 D 1.0 D Pathogenic 19_11350340_C->G 19 11350340 11350340 C G snp 2079.77 0/1 99 218 124 94 0.43 exonic rs892066 C19orf80 AU synonymous SNV NM_018687 exon1 c.C27G p.L9L 0.374401 0.3115 0.312360 0.2268 0.3489 Uncertain 19_11353533_T->C 19 11353533 11353533 T C snp 46.77 0/1 31 3 1 2 0.67 intronic rs181360215 DOCK6 AR NM_020812 exon36 c.43562-201T>C 0.00259585 0.0129 Uncertain 19_11363146_A->T 19 11363146 11363146 A T snp 1103.77 0/1 99 84 39 45 0.54 intronic rs8113582 DOCK6 AR NM_020812 exon45 c.52985-11A>T 0.591254 0.6756 0.607837 0.6966 0.6503 Uncertain 19_11364539_C->T 19 11364539 11364539 C T snp 52.77 0/1 81 19 15 4 0.21 intronic rs76712266 DOCK6 AR NM_020812 exon47 c.54230+137C>T 0.0399361 0.1756 Uncertain 19_11406952_A->G 19 11406952 11406952 A G snp 1169.77 0/1 99 82 34 48 0.59 UTR5 rs374409 TSPAN16 AU 0.45028 0.2718 0.464632 0.3576 0.2680 Uncertain 19_11409061_C->T 19 11409061 11409061 C T snp 178.77 0/1 99 13 7 6 0.46 intronic rs377665 TSPAN16 AU NM_001282510 exon2 c.2042+46C>T 0.416334 0.2728 0.425408 0.3539 0.2755 Uncertain 19_11409494_G->A 19 11409494 11409494 G A snp 918.77 0/1 99 84 52 32 0.38 intronic rs423304 TSPAN16 AU NM_001282509 exon3 c.2574-53G>A 0.415535 0.2728 Uncertain 19_11409684_A->G 19 11409684 11409684 A G snp 1699.77 0/1 99 134 70 64 0.48 intronic rs422496 TSPAN16 AU NM_001282509 exon3 c.2649+62A>G 0.466054 0.2877 0.462768 Uncertain 19_11411868_C->A 19 11411868 11411868 C A snp 1023.77 0/1 99 80 41 39 0.49 intronic rs420703 TSPAN16 AU NM_001282510 exon3 c.4903-8C>A 0.456869 0.2788 0.465324 0.3637 0.2692 Uncertain 19_11436302_-->G 19 11436302 11436302 - G indel 2091.73 1/1 99 56 0 56 1.0 intronic rs397738661 RAB3D AU NM_004283 exon1 c.188+41insG 0.9999 1 Uncertain 19_11446520_T->G 19 11446520 11446520 T G snp 775.77 0/1 99 49 22 27 0.55 intronic rs3816864 RAB3D AU NM_004283 exon3 c.10386+61T>G 0.289337 0.1062 Uncertain 19_11459260_T->C 19 11459260 11459260 T C snp 1184.77 0/1 99 144 88 56 0.39 intronic rs12976608 CCDC159 AU NM_001080503 exon2 c.3047-1069T>C 0.348642 0.2708 Uncertain 19_11464003_C->G 19 11464003 11464003 C G snp 522.77 0/1 99 32 14 18 0.56 intronic rs12975236 CCDC159 AU NM_001080503 exon8 c.6844-123C>G 0.262181 0.2708 Uncertain 19_11465129_C->T 19 11465129 11465129 C T snp 524.77 0/1 99 41 17 24 0.59 intronic rs7251786 CCDC159 AU NM_001080503 exon10 c.7973-126C>T 0.374401 0.2708 Uncertain 19_11465316_G->C 19 11465316 11465316 G C snp 780.77 0/1 99 66 35 31 0.47 exonic rs6887 CCDC159 AU nonsynonymous SNV NM_001080503 exon10 c.G833C p.C278S 0.376597 0.2788 0.458231 0.4671 0.3194 0.77 T 0.0 P -0.914 T 0.0 T 0.0 T Pathogenic 19_11472998_C->G 19 11472998 11472998 C G snp 119.78 0/1 27 6 1 5 0.83 intronic rs3745689 LPPR2 AU NM_001170635 exon7 c.4839-190C>G 0.103235 0.1746 Uncertain 19_11474335_G->A 19 11474335 11474335 G A snp 964.77 0/1 99 89 47 42 0.47 intronic rs8108707 LPPR2 AU NM_001170635 exon8 c.6039-53G>A 0.165335 0.2113 Uncertain 19_11507855_G->A 19 11507855 11507855 G A snp 797.77 0/1 99 75 41 34 0.45 intronic rs3816865 RGL3 AU NM_001035223 exon2 c.2842-64G>A 0.229633 0.245 Uncertain 19_11508177_G->A 19 11508177 11508177 G A snp 2157.77 0/1 99 149 65 84 0.56 exonic rs2291516 RGL3 AU nonsynonymous SNV NM_001035223 exon17 c.C1843T p.R615C 0.210463 0.3482 0.103740 0.1677 0.3608 0.5 T 1.000 P -0.898 T 0.011 T 0.003 T Pathogenic 19_11512826_A->G 19 11512826 11512826 A G snp 1003.77 0/1 99 74 35 39 0.53 intronic rs317910 RGL3 AU NM_001035223 exon7 c.7731+18A>G 0.278554 0.246 0.234998 0.1504 0.2415 Uncertain 19_11512830_C->T 19 11512830 11512830 C T snp 976.77 0/1 99 75 37 38 0.51 intronic rs3745688 RGL3 AU NM_001035223 exon7 c.7731+22C>T 0.102037 0.1865 0.078608 0.0911 0.1910 Uncertain 19_11513509_T->C 19 11513509 11513509 T C snp 321.77 0/1 99 20 10 10 0.5 intronic rs222603 RGL3 AU NM_001035223 exon10 c.8305+127T>C 0.277356 0.246 Uncertain 19_11516007_T->G 19 11516007 11516007 T G snp 577.77 0/1 99 56 32 24 0.43 exonic rs10416704 RGL3 AU synonymous SNV NM_001035223 exon8 c.A1092C p.A364A 0.239018 0.251 0.205059 0.1438 0.2550 Uncertain 19_11526759_G->A 19 11526759 11526759 G A snp 910.77 0/1 99 90 45 45 0.5 exonic rs160838 RGL3 AU nonsynonymous SNV NM_001035223 exon5 c.C491T p.A164V 0.639177 0.6766 0.608412 0.6067 0.6652 0.32 T 0.013 P -0.946 T 0.574 P 0.184 P Pathogenic 19_11526765_G->T 19 11526765 11526765 G T snp 945.77 0/1 99 87 41 46 0.53 exonic rs167479 RGL3 AU nonsynonymous SNV NM_001035223 exon5 c.C485A p.P162H 0.445687 0.4782 0.400354 0.4952 0.4871 0 D 0.954 P -0.901 T 1.0 D 0.993 D Pathogenic 19_11534504_GG->- 19 11534504 11534505 GG - indel 1604.73 0/1 99 92 35 57 0.62 intronic rs782134969 CCDC151 AR NM_145045 exon6 c.3043-41_3043-40delGG 0.2663 0.2374 Uncertain 19_11541712_T->C 19 11541712 11541712 T C snp 2421.77 0/1 99 163 64 99 0.61 intronic rs34094 CCDC151 AR NM_145045 exon12 c.10216-6T>C 0.91234 0.8919 0.936549 0.9634 0.8731 Uncertain 19_11557235_-->G 19 11557235 11557235 - G indel 1293.73 0/1 99 106 57 49 0.46 intronic rs35753565 PRKCSH AD NM_001289102 exon8 c.10227+70insG 0.164137 0.1528 Uncertain 19_11558052_T->C 19 11558052 11558052 T C snp 948.77 0/1 99 71 38 33 0.46 intronic rs160840 PRKCSH AD NM_001289102 exon9 c.11037+77T>C 0.217452 0.1528 Uncertain 19_11558240_T->C 19 11558240 11558240 T C snp 3316.77 1/1 99 132 0 132 1.0 intronic rs186375 PRKCSH AD NM_001289102 exon10 c.11315-13T>C 0.994609 1 0.992310 0.9922 1 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000080026.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 19_11558341_GAG->- 19 11558341 11558343 GAG - indel 3195.79 1/1 99 94 0 94 1.0 exonic rs3217229 PRKCSH AD nonframeshift deletion NM_002743 exon11 c.937_939del p.313_313del 0.449281 0.3661 0.3850 0.3464 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000080029.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 ID=COSM438565;OCCURENCE=1(urinary_tract),2(breast) Uncertain 19_11559158_A->G 19 11559158 11559158 A G snp 177.77 0/1 99 17 10 7 0.41 intronic rs160841 PRKCSH AD NM_001289102 exon12 c.12168+52A>G 0.189297 0.1528 0.152915 0.1413 0.1739 Uncertain 19_11559696_G->A 19 11559696 11559696 G A snp 3211.76 0/1 99 250 118 132 0.53 intronic rs1971206 PRKCSH AD NM_001289102 exon14 c.12790-32G>A 0.0369409 0.0615 0.022989 0.0395 0.0596 Uncertain 19_11569316_G->A 19 11569316 11569316 G A snp 1788.77 0/1 99 142 66 76 0.54 exonic rs2242112 ELAVL3 AU synonymous SNV NM_001420 exon4 c.C444T p.Y148Y 0.0569089 0.1339 0.034369 0.0460 0.1411 Uncertain 19_11624491_C->G 19 11624491 11624491 C G snp 881.77 1/1 66 29 0 29 1.0 intronic rs4804168 ECSIT AU NM_001142464 exon5 c.6336-127C>G 0.998403 1 Uncertain 19_11660012_T->A 19 11660012 11660012 T A snp 50.74 1/1 6 2 0 2 1.0 intronic rs8100751 CNN1 AU NM_001299 exon6 c.10395-125T>A 0.560703 0.748 Uncertain 19_11664424_A->C 19 11664424 11664424 A C snp 116.77 0/1 99 8 4 4 0.5 UTR3 ELOF1 AU Uncertain 19_11687195_C->T 19 11687195 11687195 C T snp 974.77 0/1 99 82 38 44 0.54 exonic rs2229531 ACP5 AR nonsynonymous SNV NM_001111035 exon6 c.G598A p.V200M 0.0712859 0.1012 0.082141 0.0966 0.0857 0.09 T 1.000 P -0.641 T 0.981 D 0.731 D Pathogenic 19_11687351_C->T 19 11687351 11687351 C T snp 1569.77 0/1 99 116 47 69 0.59 exonic rs2305799 ACP5 AR nonsynonymous SNV NM_001111035 exon6 c.G442A p.V148M 0.08127 0.1012 0.091958 0.1034 0.0859 0.13 T 0.998 P -0.972 T 0.56 P 0.381 P Pathogenic 19_11725794_G->A 19 11725794 11725794 G A snp 72.77 0/1 69 5 2 3 0.6 intronic rs146842865 ZNF627 AU NM_145295 exon3 c.17260+92G>A 0.0726837 0.1012 Uncertain 19_11727503_T->C 19 11727503 11727503 T C snp 648.77 0/1 99 43 21 22 0.51 intronic rs4545929 ZNF627 AU NM_145295 exon4 c.19067-6T>C 0.384585 0.3274 0.421864 0.4644 0.2972 Uncertain 19_11891003_G->A 19 11891003 11891003 G A snp 4680.77 1/1 99 161 0 161 1.0 exonic rs799193 ZNF441 AU nonsynonymous SNV NM_152355 exon4 c.G364A p.V122I 0.89377 0.9514 0.842688 0.8304 0.9472 0.08 T 0.0 P -1.084 T 0.0 T 0.0 T Pathogenic 19_11942362_A->G 19 11942362 11942362 A G snp 2410.77 0/1 99 250 158 92 0.37 exonic rs427880 ZNF440 AU nonsynonymous SNV NM_152357 exon4 c.A371G p.N124S 0.535942 0.4236 0.553830 0.4454 0.4006 0.03 T 0.0 P -1.083 T 0.038 T 0.024 T Pathogenic 19_11942615_A->C 19 11942615 11942615 A C snp 2327.77 0/1 99 154 65 89 0.58 exonic rs394416 ZNF440 AU synonymous SNV NM_152357 exon4 c.A624C p.A208A 0.535343 0.4206 0.553214 0.4452 0.3973 Uncertain 19_11943697_G->A 19 11943697 11943697 G A snp 3200.06 1/1 99 117 0 117 1.0 exonic rs400106 ZNF440 AU nonsynonymous SNV NM_152357 exon4 c.G1706A p.S569N 0.973642 1 0.948574 0.9428 0.9998 0.75 T 0.000 P -1.051 T 0.0 T 0.0 T Pathogenic 19_12014355_C->G 19 12014355 12014355 C G snp 298.77 0/1 99 32 20 12 0.38 intronic rs11671654 ZNF69 AU NM_021915 exon2 c.15691-74C>G 0.357628 0.5238 0.4505 0.5246 Uncertain 19_12058536_C->T 19 12058536 12058536 C T snp 191.77 0/1 99 16 7 9 0.56 intronic rs4804175 ZNF700 AU NM_001271848 exon3 c.22364+147C>T 0.399561 0.6399 Uncertain 19_12089030_G->A 19 12089030 12089030 G A snp 2564.77 0/1 99 198 93 105 0.53 exonic rs778630192 ZNF763 AU synonymous SNV NM_001012753 exon4 c.G300A p.K100K 6.607e-05 0.0008 Uncertain 19_12157334_T->G 19 12157334 12157334 T G snp 478.77 1/1 36 13 0 13 1.0 intronic rs4804176 ZNF878 AU NM_001080404 exon2 c.2624+91T>G 1 1 Uncertain 19_12187020_G->A 19 12187020 12187020 G A snp 1027.77 0/1 99 91 47 44 0.48 exonic rs79356129 ZNF844 AU nonsynonymous SNV NM_001136501 exon4 c.G1085A p.R362K 0.0203674 0.0992 0.000876 0.0103 0.1387 1 T 1.000 N -0.949 T 0.047 T 0.033 T Pathogenic 19_12222381_C->G 19 12222381 12222381 C G snp 3404.77 1/1 99 113 0 113 1.0 ncRNA_exonic rs1866382 ZNF788 AU 0.970647 1 0.9591 1 1 T -0.988 T 0.0 T 0.0 T Uncertain 19_12222861_T->C 19 12222861 12222861 T C snp 845.77 0/1 99 87 52 35 0.4 ncRNA_exonic rs1975349 ZNF788 AU 0.389976 0.3363 0.3364 0.4672 0 D -1.042 T 0.0 T 0.0 T Uncertain 19_12247731_A->G 19 12247731 12247731 A G snp 1883.77 0/1 99 163 81 82 0.5 ncRNA_intronic rs12608894 ZNF625-ZNF20 AU 0.201278 0.2282 0.1514 0.2576 Uncertain 19_12253327_C->T 19 12253327 12253327 C T snp 773.77 0/1 99 66 34 32 0.48 ncRNA_intronic rs3760779 ZNF625-ZNF20 AU 0.190495 0.2024 0.1408 0.2524 Uncertain 19_12256358_T->G 19 12256358 12256358 T G snp 1780.77 0/1 99 158 83 75 0.47 exonic rs12972621 ZNF625 AU synonymous SNV NM_145233 exon4 c.A873C p.R291R 0.39996 0.6369 0.341458 0.4423 0.6103 Uncertain 19_12256912_C->T 19 12256912 12256912 C T snp 2951.77 0/1 99 214 100 114 0.53 exonic rs7258368 ZNF625 AU nonsynonymous SNV NM_145233 exon4 c.G319A p.V107M 0.196885 0.2133 0.165770 0.1501 0.2524 0.17 T 0.0 P -0.939 T 0.122 T 0.005 T Pathogenic 19_12267292_T->C 19 12267292 12267292 T C snp 791.77 0/1 99 59 25 34 0.58 ncRNA_intronic rs269823 ZNF625-ZNF20 AU 0.280351 0.2262 Uncertain 19_12296819_G->A 19 12296819 12296819 G A snp 1265.77 0/1 99 106 49 57 0.54 intronic rs12610074 ZNF136 AU NM_003437 exon2 c.22708+93G>A 0.226438 0.25 Uncertain 19_12297004_G->T 19 12297004 12297004 G T snp 461.77 0/1 99 34 15 19 0.56 intronic rs118111103 ZNF136 AU NM_003437 exon3 c.22971+15G>T 0.0119808 0.0595 0.0046 0.0604 ID=COSN165738;OCCURENCE=1(NS) Uncertain 19_12297369_G->T 19 12297369 12297369 G T snp 1263.77 0/1 99 100 49 51 0.51 intronic rs8111785 ZNF136 AU NM_003437 exon4 c.23366-15G>T 0.237021 0.25 0.195739 0.1783 0.3057 Uncertain 19_12360647_A->G 19 12360647 12360647 A G snp 324.77 0/1 99 19 9 10 0.53 intergenic rs10411611 LOC100289333 AU 0.405551 0.3125 Uncertain 19_12383090_T->C 19 12383090 12383090 T C snp 379.77 0/1 99 17 5 12 0.71 UTR3 rs112612717 ZNF44 AU 0.196685 0.2579 Uncertain 19_12383540_G->C 19 12383540 12383540 G C snp 967.77 0/1 99 108 66 42 0.39 exonic rs56056044 ZNF44 AU synonymous SNV NM_016264 exon4 c.C1530G p.G510G 0.204073 0.2569 0.178537 0.1801 0.2899 Uncertain 19_12384580_T->C 19 12384580 12384580 T C snp 3467.77 0/1 99 250 116 134 0.54 exonic rs11879168 ZNF44 AU nonsynonymous SNV NM_016264 exon4 c.A490G p.T164A 0.196486 0.2579 0.174796 0.1775 0.2891 0.04 T -1.035 T 0.05 T 0.037 T Pathogenic 19_12385749_C->T 19 12385749 12385749 C T snp 214.77 0/1 99 31 19 12 0.39 intronic rs2459040 ZNF44 AU NM_001164276 exon2 c.2566-38C>T 0.390575 0.2946 0.405695 0.3499 0.3513 Uncertain 19_12402112_C->T 19 12402112 12402112 C T snp 2067.77 0/1 99 131 52 79 0.6 intronic rs2458999 ZNF44 AU NM_001164276 exon4 c.20825-1934C>T 0.422724 0.2937 0.3085 0.3333 Uncertain 19_12405552_T->C 19 12405552 12405552 T C snp 2843.77 0/1 99 250 127 123 0.49 UTR5 rs386901 ZNF44 AU 0.389577 0.2956 0.383740 0.3634 0.3538 Uncertain 19_12491303_TTC->- 19 12491303 12491305 TTC - indel 4538.73 0/1 99 167 68 99 0.59 intergenic rs145317058 ZNF442 AU 0.4154 0.0864 Uncertain 19_12491498_C->T 19 12491498 12491498 C T snp 3090.77 0/1 99 250 133 117 0.47 intergenic rs4804664 ZNF442 AU 0.4998 0.2847 0.4988 0.3003 Uncertain 19_12491639_A->G 19 12491639 12491639 A G snp 2434.77 0/1 99 208 113 95 0.46 intergenic rs59301182 ZNF442 AU 0.333067 0.0754 0.4183 0.0871 Uncertain 19_12491654_C->T 19 12491654 12491654 C T snp 2492.77 0/1 99 193 100 93 0.48 intergenic rs57371898 ZNF442 AU 0.326078 0.0754 0.4144 0.0872 Uncertain 19_12491779_T->C 19 12491779 12491779 T C snp 3059.77 0/1 99 231 113 118 0.51 intergenic rs17706075 ZNF442 AU 0.404752 0.0774 0.4354 0.0865 Uncertain 19_12502457_A->G 19 12502457 12502457 A G snp 1909.77 0/1 99 127 61 66 0.52 exonic rs4804669 ZNF799 AU nonsynonymous SNV NM_001080821 exon4 c.T755C p.L252P 0.71845 0.4623 0.837206 0.7554 0.5044 1 T 0.058 P -1.030 T 0.0 T 0.0 T Pathogenic 19_12502598_G->A 19 12502598 12502598 G A snp 2904.77 0/1 99 244 134 110 0.45 exonic rs370069169 ZNF799 AU nonsynonymous SNV NM_001080821 exon4 c.C614T p.A205V 0.000077 2.474e-05 0.0001 0.08 T 1 N -1.054 T 0.987 D 0.856 D Pathogenic 19_12541532_C->A 19 12541532 12541532 C A snp 3033.77 0/1 99 239 109 130 0.54 exonic rs10422063 ZNF443 AU nonsynonymous SNV NM_005815 exon4 c.G1454T p.C485F 0.650958 0.4534 0.743233 0.7314 0.4209 1 T 0.0 P -1.007 T 0.0 T 0.0 T Pathogenic 19_12541547_T->G 19 12541547 12541547 T G snp 3035.77 0/1 99 245 115 130 0.53 exonic rs10402252 ZNF443 AU nonsynonymous SNV NM_005815 exon4 c.A1439C p.K480T 0.261182 0.1071 0.405476 0.4114 0.0944 0.02 T 0.0 P -0.929 T 0.988 D 0.93 D Pathogenic 19_12542772_C->T 19 12542772 12542772 C T snp 1910.77 0/1 99 229 137 92 0.4 exonic rs1134389 ZNF443 AU nonsynonymous SNV NM_005815 exon4 c.G214A p.V72I 0.261182 0.1071 0.4313 0.0997 0.41 T 0.0 P -0.968 T 0.024 T 0.04 T Pathogenic 19_12542848_G->C 19 12542848 12542848 G C snp 294.77 0/1 99 71 53 18 0.25 intronic rs4804692 ZNF443 AU NM_005815 exon1 c.1825+54G>C 0.65595 0.4524 Uncertain 19_12542851_A->G 19 12542851 12542851 A G snp 259.77 0/1 99 66 49 17 0.26 intronic rs4804693 ZNF443 AU NM_005815 exon1 c.1825+57A>G 0.655751 0.4524 Uncertain 19_12542852_T->C 19 12542852 12542852 T C snp 271.77 0/1 99 64 47 17 0.27 intronic rs148948402 ZNF443 AU NM_005815 exon1 c.1825+58T>C 0.267572 0.1081 Uncertain 19_12543333_C->T 19 12543333 12543333 C T snp 516.77 0/1 99 43 24 19 0.44 intronic rs3979432 ZNF443 AU NM_005815 exon2 c.2282+82C>T 0.368211 0.1121 Uncertain 19_12551616_C->G 19 12551616 12551616 C G snp 542.77 0/1 99 35 18 17 0.49 intronic rs35084134 ZNF443 AU NM_005815 exon4 c.10756-109C>G 0.28095 0.1071 Uncertain 19_12551715_A->C 19 12551715 12551715 A C snp 2135.77 0/1 99 222 128 94 0.42 intronic rs11881297 ZNF443 AU NM_005815 exon4 c.10756-10A>C 0.652556 0.4524 0.746117 0.7322 0.4220 Uncertain 19_12551946_C->G 19 12551946 12551946 C G snp 102.77 0/1 99 11 5 6 0.55 upstream rs3745656 ZNF443 AU 0.653754 0.4524 Uncertain 19_12576049_G->A 19 12576049 12576049 G A snp 1388.77 0/1 99 122 69 53 0.43 exonic rs7259240 ZNF709 AU synonymous SNV NM_152601 exon4 c.C687T p.C229C 0.285942 0.1171 0.424196 0.4224 0.1031 Uncertain 19_12576573_G->A 19 12576573 12576573 G A snp 384.77 0/1 99 24 9 15 0.63 intronic rs10404972 ZNF709 AU NM_152601 exon1 c.1738+26G>A 0.228035 0.1171 0.371473 0.4153 0.1163 Uncertain 19_12577723_A->T 19 12577723 12577723 A T snp 204.77 0/1 99 16 9 7 0.44 intronic rs8100400 ZNF709 AU NM_152601 exon3 c.2855+59A>T Uncertain 19_12624524_C->- 19 12624524 12624524 C - indel 3246.73 0/1 99 220 127 93 0.42 intergenic rs769112509 ZNF709 AU 0 0 Uncertain 19_12638887_T->C 19 12638887 12638887 T C snp 136.03 1/1 12 4 0 4 1.0 intronic rs6511824 ZNF564 AU NM_144976 exon1 c.1471+157T>C 0.96905 0.9702 Uncertain 19_12662318_-->C 19 12662318 12662318 - C indel 5235.73 1/1 99 151 0 151 1.0 UTR5 rs386365455 ZNF564 AU 0.992412 1 Uncertain 19_12738397_A->G 19 12738397 12738397 A G snp 121.03 1/1 12 4 0 4 1.0 intronic rs8109922 ZNF791 AU NM_153358 exon4 c.16641-137A>G 0.985823 0.9315 Uncertain 19_12825847_TTGACCA->- 19 12825847 12825853 TTGACCA - indel 6178.73 0/1 99 172 87 85 0.49 intronic TNPO2 AU NM_001136195 exon18 c.13701-13_13701-7delTTGACCA 0.006692 Uncertain 19_12825854_T->C 19 12825854 12825854 T C snp 1878.77 0/1 99 163 89 74 0.45 intronic rs528789336 TNPO2 AU NM_001136195 exon18 c.13701-6T>C Uncertain 19_12826192_T->C 19 12826192 12826192 T C snp 1167.77 0/1 99 116 68 48 0.41 intronic rs138458538 TNPO2 AU NM_001136195 exon20 c.14059-26T>C 0.019369 0.0337 0.008151 0.0183 0.0416 Uncertain 19_12876278_C->A 19 12876278 12876278 C A snp 1167.77 0/1 99 88 41 47 0.53 intronic rs1205169 HOOK2 AU NM_001100176 exon6 c.2408-225C>A 0.798722 0.5278 Uncertain 19_12886236_C->T 19 12886236 12886236 C T snp 1618.77 0/1 99 153 81 72 0.47 exonic rs2305376 HOOK2 AU nonsynonymous SNV NM_001100176 exon1 c.G28A p.G10R 0.0191693 0.0843 0.000659 0.0110 0.0882 0.12 T 0.959 D -1.212 T 0.99 D 0.756 D Pathogenic 19_12911285_T->C 19 12911285 12911285 T C snp 257.77 0/1 99 18 8 10 0.56 intronic rs10427027 PRDX2 AU NM_005809 exon3 c.3219+172T>C 0.21246 0.0536 Uncertain 19_12917761_A->T 19 12917761 12917761 A T snp 99.77 0/1 99 10 6 4 0.4 intronic rs55668927 RNASEH2A AR NM_006397 exon2 c.334-60A>T 0.0928514 0.0417 0.095269 Uncertain 19_12939792_T->C 19 12939792 12939792 T C snp 2020.77 1/1 99 72 0 72 1.0 intronic rs1466306 RTBDN AU NM_001270440 exon4 c.2347+25T>C 0.705059 0.7018 0.7349 Uncertain 19_12948864_G->T 19 12948864 12948864 G T snp 224.84 1/1 18 6 0 6 1.0 upstream rs8111370 MAST1 AU 0.500799 0.619 Uncertain 19_12958360_T->C 19 12958360 12958360 T C snp 3886.77 1/1 99 136 0 136 1.0 intronic rs2290689 MAST1 AU NM_014975 exon6 c.9039-65T>C 0.502396 0.621 Uncertain 19_12958697_T->C 19 12958697 12958697 T C snp 5135.77 1/1 99 167 1 166 0.99 exonic rs2290688 MAST1 AU synonymous SNV NM_014975 exon7 c.T600C p.F200F 0.502396 0.621 0.385574 0.3776 0.6363 Uncertain 19_12962648_A->G 19 12962648 12962648 A G snp 679.77 1/1 51 20 0 20 1.0 intronic rs7250751 MAST1 AU NM_014975 exon8 c.13361-99A>G 0.445288 0.621 Uncertain 19_12963143_T->C 19 12963143 12963143 T C snp 2932.77 1/1 99 99 1 98 0.99 exonic rs1078264 MAST1 AU synonymous SNV NM_014975 exon10 c.T1011C p.D337D 0.446885 0.621 0.324081 0.3434 0.6323 Uncertain 19_12963285_C->T 19 12963285 12963285 C T snp 71.77 0/1 99 12 9 3 0.25 intronic rs2077544 MAST1 AU NM_014975 exon10 c.13823+76C>T 0.338259 0.6022 Uncertain 19_12975599_G->A 19 12975599 12975599 G A snp 2091.77 1/1 99 73 0 73 1.0 intronic rs2242512 MAST1 AU NM_014975 exon13 c.26236-23G>A 0.414337 0.62 0.297939 0.3366 0.6277 Uncertain 19_12975608_T->C 19 12975608 12975608 T C snp 979.77 0/1 99 81 44 37 0.46 intronic rs7256794 MAST1 AU NM_014975 exon13 c.26236-14T>C 0.0495208 0.0188 0.054975 0.0370 0.0216 Uncertain 19_12976482_AAC->- 19 12976482 12976484 AAC - indel 5932.73 1/1 99 113 0 113 1.0 intronic rs146361171 MAST1 AU NM_014975 exon16 c.27144-48_27144-46delAAC 0.427716 0.621 0.3439 0.6328 Uncertain 19_12981477_-->A 19 12981477 12981477 - A indel 47.19 0/1 4 6 1 5 0.83 intronic rs35890154 MAST1 AU NM_014975 exon23 c.32251-160insA 0.438299 0.4921 Uncertain 19_12985576_A->G 19 12985576 12985576 A G snp 1626.77 0/1 99 138 69 69 0.5 exonic rs11085822 MAST1 AU synonymous SNV NM_014975 exon26 c.A4605G p.S1535S 0.4373 0.6181 0.315887 0.3539 0.6256 Uncertain 19_12989560_G->A 19 12989560 12989560 G A snp 1342.77 0/1 99 116 57 59 0.51 exonic rs2293682 DNASE2 AU synonymous SNV NM_001375 exon4 c.C435T p.S145S 0.370807 0.6181 0.240120 0.3048 0.6251 Uncertain 19_12996740_A->G 19 12996740 12996740 A G snp 1082.77 0/1 99 123 68 55 0.45 exonic rs2072597 KLF1 AU,AD nonsynonymous SNV NM_006563 exon2 c.T304C p.S102P 0.444289 0.6111 0.270488 0.4392 0.6791 0.24 T 0.0 P -1.024 T 0.0 T 0.0 T Pathogenic 19_13002400_G->C 19 13002400 13002400 G C snp 455.77 0/1 99 32 13 19 0.59 intronic rs1799918 GCDH AR NM_000159 exon3 c.218+64G>C 0.253195 0.1478 0.323259 0.3268 0.1478 Uncertain 19_13002563_T->G 19 13002563 13002563 T G snp 117.77 0/1 58 6 2 4 0.67 intronic rs2242517 GCDH AR NM_000159 exon4 c.526-81T>G 0.403954 0.1508 Uncertain 19_13010520_A->G 19 13010520 13010520 A G snp 1641.77 1/1 99 58 0 58 1.0 UTR3 rs8012 GCDH AR 0.720447 0.7768 0.638889 0.6130 0.7855 0.03 T 0.0 P -0.943 T 0.0 T 0.0 T Uncertain 19_13015530_A->G 19 13015530 13015530 A G snp 107.77 0/1 99 12 8 4 0.33 intronic rs17706531 SYCE2 AU NM_001105578 exon4 c.5326+50A>G 0.252396 0.1498 0.296897 0.3231 0.1511 Uncertain 19_13029188_G->A 19 13029188 13029188 G A snp 353.77 0/1 99 31 16 15 0.48 intronic rs2965214 SYCE2 AU NM_001105578 exon5 c.18997+37G>A 0.68131 0.8482 0.633648 0.6602 0.8474 Uncertain 19_13030938_C->T 19 13030938 13030938 C T snp 79.77 0/1 30 5 2 3 0.6 upstream SYCE2 AU Uncertain 19_13031210_T->C 19 13031210 13031210 T C snp 593.77 0/1 99 33 11 22 0.67 intergenic rs2967897 SYCE2 AU 0.690296 0.8492 0.875 . Uncertain 19_13035006_G->A 19 13035006 13035006 G A snp 1753.77 0/1 99 173 95 78 0.45 exonic rs1045913 FARSA AU synonymous SNV NM_004461 exon12 c.C1347T p.P449P 0.0800719 0.0962 0.082731 0.1055 0.0975 Uncertain 19_13039284_A->G 19 13039284 13039284 A G snp 2224.77 0/1 99 173 81 92 0.53 intronic rs2293683 FARSA AU NM_004461 exon7 c.5710+13A>G 0.68131 0.8125 0.636014 0.6577 0.8186 Uncertain 19_13044544_C->A 19 13044544 13044544 C A snp 396.77 0/1 99 32 12 20 0.63 UTR5 rs2974750 FARSA AU 0.747005 0.8482 0.714342 0.7048 0.8265 Uncertain 19_13056883_T->G 19 13056883 13056883 T G snp 217.77 0/1 99 33 19 14 0.42 intronic RAD23A AU NM_001270363 exon1 c.72+49T>G Uncertain 19_13056888_T->G 19 13056888 13056888 T G snp 170.77 0/1 99 29 15 14 0.48 intronic RAD23A AU NM_001270363 exon1 c.72+54T>G Uncertain 19_13056894_C->G 19 13056894 13056894 C G snp 33.77 0/1 62 26 15 11 0.42 intronic RAD23A AU NM_001270363 exon1 c.72+60C>G Uncertain 19_13080410_G->A 19 13080410 13080410 G A snp 2775.77 0/1 99 212 97 115 0.54 upstream rs185960974 DAND5 AU 0.000199681 0.001 0.0001 0.0017 Uncertain 19_13220676_G->A 19 13220676 13220676 G A snp 2288.77 0/1 99 168 72 96 0.57 intronic rs10414282 TRMT1 AU NM_001142554 exon8 c.4904+24G>A 0.323682 0.4286 0.241581 0.2411 0.4597 Uncertain 19_13248856_T->C 19 13248856 13248856 T C snp 206.84 1/1 18 6 0 6 1.0 intronic rs12981904 NACC1 AU NM_052876 exon6 c.2939-104T>C 0.653754 0.8234 Uncertain 19_13249244_A->G 19 13249244 13249244 A G snp 2006.77 1/1 99 67 0 67 1.0 UTR3 rs8112067 NACC1 AU 0.652157 0.8214 0.633462 0.6976 0.8557 Uncertain 19_13255536_T->C 19 13255536 13255536 T C snp 5244.77 1/1 99 169 0 169 1.0 intronic rs2304095 STX10 AU NM_001271611 exon3 c.354-41T>C 0.657548 0.8194 0.635748 0.6995 0.8523 Uncertain 19_13317491_TTA->- 19 13317491 13317493 TTA - indel 864.73 0/1 99 40 18 22 0.55 UTR3 rs143342886 CACNA1A AD 0.556909 0.3492 Uncertain 19_13317561_T->G 19 13317561 13317561 T G snp 686.77 0/1 99 68 35 33 0.49 UTR3 rs148223833 CACNA1A AD 0.00299521 0.0149 Uncertain 19_13317980_G->T 19 13317980 13317980 G T snp 50.74 1/1 6 2 0 2 1.0 UTR3 rs7254351 CACNA1A AD 0.507987 0.3522 Uncertain 19_13319693_A->G 19 13319693 13319693 A G snp 1733.77 1/1 99 52 0 52 1.0 exonic rs16051 CACNA1A AD synonymous SNV NM_001127221 exon46 c.T6660C p.H2220H 0.686901 0.7897 0.608847 0.6160 0.7601 Uncertain 19_13319989_T->C 19 13319989 13319989 T C snp 644.77 1/1 48 22 0 22 1.0 intronic rs10413221 CACNA1A AD NM_001127222 exon3 c.1999-136T>C 0.994609 1 Uncertain 19_13320002_C->G 19 13320002 13320002 C G snp 645.77 1/1 48 20 0 20 1.0 intronic rs2304093 CACNA1A AD NM_001127222 exon3 c.1999-123C>G 0.855032 0.872 Uncertain 19_13322823_G->- 19 13322823 13322823 G - indel 922.73 1/1 72 24 0 24 1.0 intronic rs3217380 CACNA1A AD NM_001127222 exon5 c.4790-93delG 0.714058 0.7966 Uncertain 19_13323124_T->G 19 13323124 13323124 T G snp 3034.77 1/1 99 103 1 102 0.99 intronic rs16048 CACNA1A AD NM_001127222 exon6 c.5071-73T>G 0.820288 0.8254 Uncertain 19_13323606_G->A 19 13323606 13323606 G A snp 479.77 1/1 36 17 0 17 1.0 intronic rs72995963 CACNA1A AD NM_001127222 exon7 c.5428+52G>A 0.263379 0.6736 0.108590 Uncertain 19_13335432_G->A 19 13335432 13335432 G A snp 745.77 0/1 99 88 46 42 0.48 intronic rs3816027 CACNA1A AD NM_001127222 exon10 c.17354-48G>A 0.479034 0.1944 0.568425 0.5552 0.2104 Uncertain 19_13338181_AAG->- 19 13338181 13338183 AAG - indel 1961.73 1/1 99 40 0 40 1.0 intronic rs143245670 CACNA1A AD NM_001127222 exon11 c.20118-63_20118-61delAAG Uncertain 19_13341037_G->A 19 13341037 13341037 G A snp 1618.77 0/1 99 135 63 72 0.53 intronic rs16042 CACNA1A AD NM_001127222 exon12 c.22897+14G>A 0.289537 0.6726 0.144775 0.1942 0.6342 Uncertain 19_13345657_C->A 19 13345657 13345657 C A snp 626.77 0/1 99 36 14 22 0.61 intronic rs3765012 CACNA1A AD NM_001127222 exon14 c.27608-77C>A 0.354832 0.6935 Uncertain 19_13355900_T->G 19 13355900 13355900 T G snp 829.77 1/1 63 25 0 25 1.0 intronic rs16039 CACNA1A AD NM_001127222 exon17 c.37869-95T>G 0.987819 0.999 Uncertain 19_13356150_T->G 19 13356150 13356150 T G snp 3340.77 1/1 99 129 0 129 1.0 intronic rs16035 CACNA1A AD NM_001127222 exon17 c.37953+71T>G 0.643171 0.8373 Uncertain 19_13386860_C->T 19 13386860 13386860 C T snp 900.77 0/1 99 61 26 35 0.57 intronic rs7257254 CACNA1A AD NM_001127222 exon24 c.68644+90C>T 0.314497 0.621 Uncertain 19_13396110_C->T 19 13396110 13396110 C T snp 183.77 0/1 99 16 9 7 0.44 intronic rs3764580 CACNA1A AD NM_001127222 exon27 c.77894+90C>T 0.189097 0.4087 Uncertain 19_13410235_G->T 19 13410235 13410235 G T snp 410.77 0/1 99 47 28 19 0.4 intronic rs12985136 CACNA1A AD NM_001127222 exon29 c.92041+68G>T 0.564497 0.7708 Uncertain 19_13411482_G->A 19 13411482 13411482 G A snp 2375.77 1/1 99 86 0 86 1.0 intronic rs16018 CACNA1A AD NM_001127222 exon30 c.93344+12G>A 0.739217 0.996 0.645233 0.7491 0.9977 Uncertain 19_13414594_C->T 19 13414594 13414594 C T snp 848.77 0/1 99 98 59 39 0.4 exonic rs16016 CACNA1A AD synonymous SNV NM_001127221 exon16 c.G2094A p.T698T 0.185104 0.2887 0.114109 0.1607 0.3003 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000116516.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 19_13418707_C->T 19 13418707 13418707 C T snp 768.77 0/1 99 84 47 37 0.44 intronic rs16015 CACNA1A AD NM_001127222 exon33 c.100542+39C>T 0.0994409 0.0625 0.128730 0.1438 0.0582 Uncertain 19_13423688_A->T 19 13423688 13423688 A T snp 147.77 0/1 99 9 4 5 0.56 intronic rs10407951 CACNA1A AD NM_001127222 exon36 c.105469+93A>T 0.351837 0.4643 Uncertain 19_13440982_C->T 19 13440982 13440982 C T snp 260.9 0/1 15 10 1 9 0.9 intronic rs3764665 CACNA1A AD NM_001127222 exon38 c.122931-75C>T 0.283746 0.4573 Uncertain 19_13441341_A->C 19 13441341 13441341 A C snp 119.77 0/1 99 7 3 4 0.57 intronic rs10425460 CACNA1A AD NM_001127221 exon38 c.122291+191A>C 0.207268 0.1369 Uncertain 19_13441371_G->T 19 13441371 13441371 G T snp 46.77 0/1 31 4 1 3 0.75 intronic rs11085843 CACNA1A AD NM_001127221 exon38 c.122291+221G>T 0.238818 0.1399 Uncertain 19_13443770_T->C 19 13443770 13443770 T C snp 3765.77 1/1 99 140 0 140 1.0 intronic rs16008 CACNA1A AD NM_001127222 exon39 c.125613+31T>C 0.900359 0.999 0.810251 0.8216 0.9998 Uncertain 19_13445144_C->T 19 13445144 13445144 C T snp 947.77 1/1 69 29 0 29 1.0 intronic rs2306348 CACNA1A AD NM_001127222 exon40 c.127065-47C>T 0.645567 0.6329 0.648054 0.6862 0.6401 Uncertain 19_13445208_C->T 19 13445208 13445208 C T snp 1764.77 1/1 99 69 0 69 1.0 exonic rs2248069 CACNA1A AD synonymous SNV NM_001127221 exon8 c.G1182A p.E394E 0.641174 0.6339 0.643695 0.6857 0.6417 Uncertain 19_13445407_T->G 19 13445407 13445407 T G snp 99.28 1/1 9 4 0 4 1.0 intronic rs28425191 CACNA1A AD NM_001127222 exon40 c.127181+100T>G Uncertain 19_13445411_G->T 19 13445411 13445411 G T snp 56.74 1/1 6 4 2 2 0.5 intronic rs79798415 CACNA1A AD NM_001127222 exon40 c.127181+104G>T Uncertain 19_13470316_C->T 19 13470316 13470316 C T snp 112.78 0/1 27 5 1 4 0.8 intronic rs16007 CACNA1A AD NM_001127222 exon42 c.152293-103C>T 0.072484 0.1052 Uncertain 19_13470522_T->C 19 13470522 13470522 T C snp 748.77 0/1 99 62 29 33 0.53 exonic rs16006 CACNA1A AD synonymous SNV NM_001127221 exon6 c.A876G p.E292E 0.112021 0.1429 0.070214 0.0961 0.2203 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000116532.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 19_13476394_T->C 19 13476394 13476394 T C snp 180.9 1/1 15 5 0 5 1.0 intronic rs1871470 CACNA1A AD NM_001127222 exon43 c.158157+111T>C 1 1 Uncertain 19_13482465_T->- 19 13482465 13482465 T - indel 1324.73 0/1 99 61 27 34 0.56 intronic rs202061083 CACNA1A AD NM_001127222 exon44 c.164375-36delT 0.0081869 0.0387 0.0024 0.0504 Uncertain 19_13616693_C->T 19 13616693 13616693 C T snp 1120.77 0/1 99 107 55 52 0.49 intronic rs16003 CACNA1A AD NM_001127222 exon47 c.298619-52C>T 0.441494 0.4177 Uncertain 19_13879622_T->C 19 13879622 13879622 T C snp 2272.77 0/1 99 127 44 83 0.65 intronic rs346152 MRI1 AU NM_032285 exon5 c.4235-15T>C 0.631989 0.623 0.4990 0.6216 Uncertain 19_13883099_A->G 19 13883099 13883099 A G snp 2425.77 0/1 99 230 122 108 0.47 UTR3 rs1469071 MRI1 AU 0.548323 0.6776 0.473935 0.4857 0.6932 Uncertain 19_13884312_A->G 19 13884312 13884312 A G snp 36.77 0/1 36 5 2 3 0.6 UTR3 rs1559153 MRI1 AU 0.445687 0.4256 Uncertain 19_13884321_C->T 19 13884321 13884321 C T snp 44.77 0/1 36 5 2 3 0.6 UTR3 rs1559152 MRI1 AU 0.44349 0.4256 Uncertain 19_13884655_G->A 19 13884655 13884655 G A snp 126.77 0/1 99 13 6 7 0.54 UTR3 rs1128028 MRI1 AU 0.424521 0.4256 Uncertain 19_13884724_G->C 19 13884724 13884724 G C snp 116.77 0/1 99 13 7 6 0.46 UTR3 rs1128030 MRI1 AU 0.42512 0.4256 Uncertain 19_13884800_T->C 19 13884800 13884800 T C snp 44.77 0/1 36 4 2 2 0.5 UTR3 rs1044733 MRI1 AU 0.369808 0.4266 Uncertain 19_13885309_C->T 19 13885309 13885309 C T snp 1849.77 0/1 99 169 95 74 0.44 exonic rs1128749 C19orf53 AU synonymous SNV NM_014047 exon1 c.C18T p.R6R 0.376198 0.4256 0.303266 0.3615 0.4867 Uncertain 19_13885437_C->A 19 13885437 13885437 C A snp 3490.77 0/1 99 250 119 131 0.52 intronic rs1559149 C19orf53 AU NM_014047 exon2 c.174-28C>A 0.376997 0.4256 0.306858 0.3157 0.4459 Uncertain 19_13885484_A->G 19 13885484 13885484 A G snp 3336.77 0/1 99 244 109 135 0.55 exonic rs10104 C19orf53 AU nonsynonymous SNV NM_014047 exon2 c.A116G p.K39R 0.377596 0.4266 0.307367 0.3163 0.4457 0 D 1.0 P -1.007 T 0.997 D 0.994 D Pathogenic 19_13885614_A->G 19 13885614 13885614 A G snp 640.77 0/1 99 48 25 23 0.48 intronic rs2287752 C19orf53 AU NM_014047 exon2 c.230+93A>G 0.433506 0.4256 Uncertain 19_13891058_T->C 19 13891058 13891058 T C snp 256.8 1/1 21 7 0 7 1.0 intergenic rs546684 C19orf53 AU 0.998003 1 0.9973 1 Uncertain 19_13899980_A->T 19 13899980 13899980 A T snp 661.77 0/1 99 57 25 32 0.56 intergenic rs4926171 C19orf53 AU 0.381989 0.3234 Uncertain 19_13900866_G->A 19 13900866 13900866 G A snp 185.77 0/1 60 8 2 6 0.75 intergenic rs62111902 C19orf53 AU 0.239217 0.1825 0.2047 0.1557 Uncertain 19_13900981_G->A 19 13900981 13900981 G A snp 1381.77 0/1 99 96 39 57 0.59 intergenic rs57398315 C19orf53 AU 0.213658 0.1796 0.2656 0.3214 Uncertain 19_13940959_G->C 19 13940959 13940959 G C snp 526.77 0/1 99 43 24 19 0.44 intronic rs10403445 ZSWIM4 AU NM_023072 exon13 c.34542-45G>C 0.344848 0.1875 0.375980 0.2812 0.1879 Uncertain 19_13947292_T->C 19 13947292 13947292 T C snp 1306.77 0/1 99 102 50 52 0.51 ncRNA_exonic rs895819 MIR27A AU 0.363818 0.2798 0.377573 0.3646 0.3112 ID=CR105186;DIS=Gastric cancer, association with;TAG=DFP;PUB=20666778 DFP Uncertain 19_13988040_C->T 19 13988040 13988040 C T snp 1884.77 0/1 99 142 61 81 0.57 upstream rs897790 NANOS3 AU 0.267772 0.3194 0.224976 0.2355 0.2996 Uncertain 19_13988416_A->G 19 13988416 13988416 A G snp 3233.06 0/1 99 249 120 129 0.52 exonic rs2016163 NANOS3 AU synonymous SNV NM_001098622 exon1 c.A354G p.T118T 0.405751 0.3194 0.377105 0.2754 0.2985 Uncertain 19_13993457_C->T 19 13993457 13993457 C T snp 122.77 0/1 66 6 2 4 0.67 UTR3 rs2242130 C19orf57 AU 0.391174 0.3085 Uncertain 19_13996587_G->A 19 13996587 13996587 G A snp 267.77 0/1 99 14 5 9 0.64 intronic rs3803894 C19orf57 AU NM_024323 exon2 c.3159-186G>A 0.382987 0.3075 Uncertain 19_13996647_T->C 19 13996647 13996647 T C snp 945.77 0/1 99 62 22 40 0.65 intronic rs3803893 C19orf57 AU NM_024323 exon2 c.3159-126T>C 0.382388 0.3075 Uncertain 19_14000170_T->C 19 14000170 14000170 T C snp 2822.77 0/1 99 250 134 116 0.46 exonic rs3803892 C19orf57 AU nonsynonymous SNV NM_024323 exon6 c.A1499G p.Q500R 0.390775 0.3085 0.363601 0.2655 0.2853 0.36 T 0.0 P -0.960 T 0.578 P 0.266 P Pathogenic 19_14000400_A->G 19 14000400 14000400 A G snp 2722.77 0/1 99 243 133 110 0.45 exonic rs3803891 C19orf57 AU synonymous SNV NM_024323 exon6 c.T1269C p.P423P 0.391773 0.3085 0.362371 0.2672 0.2852 Uncertain 19_14000870_C->T 19 14000870 14000870 C T snp 3182.76 0/1 99 250 125 125 0.5 exonic rs2305775 C19orf57 AU nonsynonymous SNV NM_024323 exon6 c.G799A p.G267R 0.382388 0.3075 0.350684 0.2626 0.2851 0.6 T 0.0 P -0.936 T 0.948 T 0.743 D Pathogenic 19_14003896_C->T 19 14003896 14003896 C T snp 618.77 0/1 99 36 14 22 0.61 intronic rs11085875 C19orf57 AU NM_024323 exon5 c.10340-58C>T 0.382388 0.3075 0.343408 Uncertain 19_14015683_C->T 19 14015683 14015683 C T snp 2542.77 0/1 99 242 131 111 0.46 exonic rs149763682 C19orf57 AU nonsynonymous SNV NM_024323 exon2 c.G23A p.R8Q 0.00119808 0.006 0.0004 0.0050 0.02 T 1 N -1.031 T 0.994 D 0.663 D Pathogenic 19_14015711_C->A 19 14015711 14015711 C A snp 2205.77 0/1 99 204 112 92 0.45 UTR5 rs6511898 C19orf57 AU 0.377196 0.3075 0.351991 0.2617 0.2848 Uncertain 19_14015815_T->C 19 14015815 14015815 T C snp 875.77 0/1 99 68 36 32 0.47 intronic rs6511899 C19orf57 AU NM_024323 exon7 c.22112+89T>C 0.381789 0.3095 Uncertain 19_14015936_A->G 19 14015936 14015936 A G snp 83.77 0/1 67 5 2 3 0.6 intronic rs6511900 C19orf57 AU NM_024323 exon7 c.22112+210A>G 0.420527 0.3095 Uncertain 19_14020573_T->C 19 14020573 14020573 T C snp 3228.29 0/1 99 250 122 128 0.51 intronic rs12971500 CC2D1A AR NM_017721 exon2 c.3381-62T>C 0.373203 0.3115 Uncertain 19_14020934_G->A 19 14020934 14020934 G A snp 40.77 0/1 69 5 3 2 0.4 intronic rs57755087 CC2D1A AR NM_017721 exon2 c.3517+163G>A 0.382188 0.3115 Uncertain 19_14023495_T->C 19 14023495 14023495 T C snp 965.77 0/1 99 71 31 40 0.56 intronic rs8111764 CC2D1A AR NM_017721 exon4 c.6152+89T>C 0.283347 0.3026 Uncertain 19_14029269_A->C 19 14029269 14029269 A C snp 1773.77 0/1 99 179 102 77 0.43 intronic rs2305776 CC2D1A AR NM_017721 exon8 c.12062-47A>C 0.420527 0.3036 0.368251 0.2874 0.3054 Uncertain 19_14030689_T->C 19 14030689 14030689 T C snp 789.77 0/1 99 76 40 36 0.47 exonic rs10410239 CC2D1A AR synonymous SNV NM_017721 exon12 c.T1281C p.G427G 0.421326 0.3016 0.368478 0.2784 0.2958 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000116587.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 19_14037768_C->T 19 14037768 14037768 C T snp 3269.77 0/1 99 250 108 142 0.57 intronic rs750580 CC2D1A AR NM_017721 exon21 c.20536-22C>T 0.263578 0.3006 0.205120 0.2166 0.2910 Uncertain 19_14038102_G->A 19 14038102 14038102 G A snp 1824.77 0/1 99 131 64 67 0.51 intronic rs10405523 CC2D1A AR NM_017721 exon22 c.20824+24G>A 0.30012 0.2956 0.237334 0.2288 0.2850 Uncertain 19_14038791_C->T 19 14038791 14038791 C T snp 1140.77 0/1 99 137 84 53 0.39 exonic rs2305777 CC2D1A AR nonsynonymous SNV NM_017721 exon23 c.C2402T p.T801M 0.125 0.0615 0.193523 0.2104 0.0736 0.16 T 0.985 P -1.014 T 1.0 D 0.992 D CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000116591.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 19_14049143_G->C 19 14049143 14049143 G C snp 1168.77 0/1 99 88 40 48 0.55 UTR5 rs79805695 PODNL1 AU 0.27476 0.3185 Uncertain 19_14049191_G->A 19 14049191 14049191 G A snp 470.77 0/1 99 27 12 15 0.56 UTR5 rs74933767 PODNL1 AU 0.278754 0.3185 Uncertain 19_14065534_A->C 19 14065534 14065534 A C snp 454.77 0/1 99 41 25 16 0.39 intronic rs1056142 DCAF15 AU NM_138353 exon3 c.2149+61A>C 0.532548 0.4692 Uncertain 19_14070855_G->A 19 14070855 14070855 G A snp 871.77 0/1 99 128 79 49 0.38 exonic rs117206519 DCAF15 AU synonymous SNV NM_138353 exon10 c.G1500A p.P500P 0.00559105 0.0278 0.000231 0.0019 0.0235 Uncertain 19_14139004_A->G 19 14139004 14139004 A G snp 1351.77 1/1 99 39 0 39 1.0 upstream rs1982632 RLN3 AU 0.878994 0.8313 0.843688 0.8243 0.8513 Uncertain 19_14141271_C->A 19 14141271 14141271 C A snp 74.77 0/1 99 8 5 3 0.38 intronic rs73519631 RLN3 AU NM_080864 exon2 c.2505-250C>A 0.448083 0.377 Uncertain 19_14141480_A->G 19 14141480 14141480 A G snp 1540.77 0/1 99 157 87 70 0.45 intronic rs4263049 RLN3 AU NM_080864 exon2 c.2505-41A>G 0.458866 0.377 0.390820 0.3195 0.3960 Uncertain 19_14141666_G->T 19 14141666 14141666 G T snp 2168.77 0/1 99 186 95 91 0.49 exonic rs78161395 RLN3 AU nonsynonymous SNV NM_080864 exon2 c.G335T p.G112V 0.189896 0.2946 0.125865 0.1872 0.3357 0.12 T 0.000 P -1.013 T 0.007 T 0.015 T Pathogenic 19_14142616_C->G 19 14142616 14142616 C G snp 502.77 0/1 99 27 11 16 0.59 UTR5 rs6511905 IL27RA AU 0.490815 0.4256 Uncertain 19_14143016_G->A 19 14143016 14143016 G A snp 220.77 0/1 99 12 5 7 0.58 intronic rs2306192 IL27RA AU NM_004843 exon2 c.513-181G>A 0.49361 0.4256 Uncertain 19_14143151_G->C 19 14143151 14143151 G C snp 136.77 0/1 99 16 10 6 0.38 intronic rs2306191 IL27RA AU NM_004843 exon2 c.513-46G>C 0.0998403 0.0615 0.093111 0.1291 0.0682 Uncertain 19_14150859_T->G 19 14150859 14150859 T G snp 224.84 1/1 18 6 0 6 1.0 intronic rs74824519 IL27RA AU NM_004843 exon4 c.8038+137T>G 0.231829 0.3304 Uncertain 19_14156841_AAAC->- 19 14156841 14156844 AAAC - indel 932.73 1/1 51 17 0 17 1.0 intronic rs149367806 IL27RA AU NM_004843 exon7 c.14281-124_14281-121delAAAC Uncertain 19_14161745_T->G 19 14161745 14161745 T G snp 657.77 1/1 48 21 0 21 1.0 intronic rs10404803 IL27RA AU NM_004843 exon11 c.19011+50T>G 0.432109 0.4425 0.346455 0.3369 0.4632 Uncertain 19_14162347_C->G 19 14162347 14162347 C G snp 143.03 1/1 12 5 0 5 1.0 intronic rs10404921 IL27RA AU NM_004843 exon12 c.19734-71C>G 0.399361 0.4435 Uncertain 19_14162676_A->C 19 14162676 14162676 A C snp 2247.77 1/1 99 79 0 79 1.0 intronic rs2306190 IL27RA AU NM_004843 exon13 c.20007-15A>C 0.610623 0.501 0.537692 0.5639 0.5705 Uncertain 19_14184713_-->G 19 14184713 14184713 - G indel 1496.73 0/1 99 106 56 50 0.47 intronic rs35666756 LOC113230 AU NM_001291291 exon1 c.568+24insG 0.3928 0.4091 Uncertain 19_14185226_T->C 19 14185226 14185226 T C snp 405.77 0/1 99 36 21 15 0.42 exonic rs7258963 LOC113230 AU nonsynonymous SNV NM_001291291 exon2 c.T593C p.V198A 0.496006 0.37 0.4117 0.4091 0.97 T -0.970 T Pathogenic 19_14194458_C->A 19 14194458 14194458 C A snp 2461.77 0/1 99 202 103 99 0.49 intronic rs35357458 C19orf67 AU NM_001277378 exon4 c.1772+41C>A 0.505192 0.3909 0.4185 0.4141 Uncertain 19_14199911_G->A 19 14199911 14199911 G A snp 3245.77 0/1 99 247 126 121 0.49 exonic rs142921938 SAMD1 AU synonymous SNV NM_138352 exon2 c.C900T p.S300S 0.00658946 0.0317 0.000083 0.0017 0.0228 Uncertain 19_14200109_T->C 19 14200109 14200109 T C snp 1193.77 0/1 99 90 39 51 0.57 exonic rs8062 SAMD1 AU synonymous SNV NM_138352 exon2 c.A702G p.E234E 0.103435 0.0813 0.1162 0.0932 Uncertain 19_14200896_-->G 19 14200896 14200896 - G indel 204.75 0/1 24 7 1 6 0.86 exonic SAMD1 AU frameshift insertion NM_138352 exon1 c.336_337insC p.A113fs Pathogenic 19_14208782_C->T 19 14208782 14208782 C T snp 702.77 0/1 99 42 19 23 0.55 intronic rs34415768 PRKACA AU NM_002730 exon5 c.4779+80C>T 0.101837 0.0734 Uncertain 19_14231243_C->T 19 14231243 14231243 C T snp 362.77 0/1 99 39 24 15 0.38 UTR3 rs3745464 ASF1B AU 0.201677 0.0933 0.202445 0.1601 0.1082 Uncertain 19_14231325_C->G 19 14231325 14231325 C G snp 1779.77 0/1 99 179 100 79 0.44 exonic rs8102267 ASF1B AU synonymous SNV NM_018154 exon4 c.G555C p.G185G 0.201677 0.0933 0.201753 0.1591 0.1086 Uncertain 19_14231330_A->G 19 14231330 14231330 A G snp 1965.77 0/1 99 188 106 82 0.44 exonic rs8102698 ASF1B AU synonymous SNV NM_018154 exon4 c.T550C p.L184L 0.197284 0.0933 0.198831 0.1580 0.1086 Uncertain 19_14294289_C->- 19 14294289 14294289 C - indel 4245.73 1/1 99 127 0 127 1.0 intronic rs398079737 ADGRL1 AU NM_014921 exon22 c.32660-55delC 0.989217 1 Uncertain 19_14492265_T->C 19 14492265 14492265 T C snp 1902.77 0/1 99 146 68 78 0.53 UTR5 rs2302997 ADGRE5 AU 0.343251 0.1429 Uncertain 19_14492272_T->C 19 14492272 14492272 T C snp 2229.77 0/1 99 165 71 94 0.57 UTR5 rs2302996 ADGRE5 AU 0.332668 0.1419 Uncertain 19_14499357_T->A 19 14499357 14499357 T A snp 743.77 1/1 57 37 3 34 0.92 intronic rs2302094 ADGRE5 AU NM_001784 exon2 c.6977+45T>A 0.916334 0.9633 0.8829 0.9068 Uncertain 19_14499410_G->C 19 14499410 14499410 G C snp 600.77 1/1 48 19 0 19 1.0 intronic rs2302092 ADGRE5 AU NM_001784 exon2 c.6977+98G>C 0.855831 0.9077 Uncertain 19_14507072_G->A 19 14507072 14507072 G A snp 139.77 0/1 99 21 14 7 0.33 intronic rs374816601 ADGRE5 AU NM_078481 exon5 c.14818-81G>A Uncertain 19_14507102_T->C 19 14507102 14507102 T C snp 298.77 0/1 99 64 48 16 0.25 intronic rs200115962 ADGRE5 AU NM_078481 exon5 c.14818-51T>C Uncertain 19_14507128_C->T 19 14507128 14507128 C T snp 601.77 0/1 99 111 80 31 0.28 intronic rs75902260 ADGRE5 AU NM_078481 exon5 c.14818-25C>T 0.1188 0.1024 Uncertain 19_14507307_C->T 19 14507307 14507307 C T snp 1593.77 0/1 99 239 166 73 0.31 intronic rs62122581 ADGRE5 AU NM_078481 exon5 c.14950+22C>T 0.3833 0.3603 Uncertain 19_14507342_G->T 19 14507342 14507342 G T snp 1179.77 0/1 99 203 144 59 0.29 intronic rs62122582 ADGRE5 AU NM_078481 exon5 c.14950+57G>T Uncertain 19_14507345_C->G 19 14507345 14507345 C G snp 1162.77 0/1 99 200 142 58 0.29 intronic rs62122583 ADGRE5 AU NM_078481 exon5 c.14950+60C>G Uncertain 19_14507373_G->A 19 14507373 14507373 G A snp 454.77 0/1 99 111 88 23 0.21 intronic ADGRE5 AU NM_078481 exon5 c.14950+88G>A Uncertain 19_14508223_A->G 19 14508223 14508223 A G snp 1446.77 1/1 85 42 1 41 0.98 intronic rs10412108 ADGRE5 AU NM_078481 exon6 c.15700+188A>G 0.843051 0.8651 Uncertain 19_14508385_G->A 19 14508385 14508385 G A snp 988.77 1/1 81 31 0 31 1.0 intronic rs10410071 ADGRE5 AU NM_001784 exon5 c.16134-84G>A 0.478834 0.6637 Uncertain 19_14508964_T->C 19 14508964 14508964 T C snp 4011.77 1/1 99 156 0 156 1.0 intronic rs7508244 ADGRE5 AU NM_001784 exon7 c.16616+13T>C 0.846446 0.877 0.802168 0.8002 0.8544 Uncertain 19_14512489_G->A 19 14512489 14512489 G A snp 1816.77 0/1 99 168 94 74 0.44 exonic rs2230748 ADGRE5 AU nonsynonymous SNV NM_001784 exon9 c.G821A p.R274Q 0.216454 0.4593 0.115870 0.1781 0.4444 1 T 0.0 P -1.007 T 0.0 T 0.001 T Pathogenic 19_14522435_CCTTA->- 19 14522435 14522439 CCTTA - indel 14333.7 1/1 99 205 0 205 1.0 intronic rs397787946 DDX39A AU NM_005804 exon8 c.2663+25_2663+29delCCTTA 0.843051 0.8829 0.775150 0.7686 0.8641 Uncertain 19_14561722_A->G 19 14561722 14561722 A G snp 1814.77 1/1 99 71 0 71 1.0 exonic rs8107892 PKN1 AU synonymous SNV NM_002741 exon6 c.A771G p.L257L 0.996406 1 0.994417 0.9940 1 Uncertain 19_14581651_G->A 19 14581651 14581651 G A snp 2615.77 0/1 99 248 130 118 0.48 exonic rs2230541 PKN1 AU synonymous SNV NM_002741 exon21 c.G2613A p.Q871Q 0.0071885 0.0357 0.000241 0.0026 0.0326 Uncertain 19_14581757_GCCTCAAGGGCCTCGTTGC->- 19 14581757 14581775 GCCTCAAGGGCCTCGTTGC - indel 3803.73 0/1 99 84 23 61 0.73 intronic rs398059580 PKN1 AU NM_213560 exon21 c.30561+94_30561+112delGCCTCAAGGGCCTCGTTGC 0.0251597 0.0863 Uncertain 19_14582468_G->A 19 14582468 14582468 G A snp 1880.77 0/1 99 163 77 86 0.53 exonic rs10846 PKN1 AU nonsynonymous SNV NM_002741 exon22 c.G2701A p.V901I 0.250998 0.8234 0.081134 0.2069 0.8215 0.19 T 0.621 P -0.963 T 0.023 T 0.013 T Pathogenic 19_14583264_G->C 19 14583264 14583264 G C snp 405.77 0/1 99 34 18 16 0.47 downstream rs2241363 PKN1 AU 0.466054 0.6438 Uncertain 19_14590236_C->T 19 14590236 14590236 C T snp 317.77 0/1 99 17 5 12 0.71 exonic rs3815715 GIPC1 AU synonymous SNV NM_202470 exon5 c.G756A p.T252T 0.307308 0.6448 0.226558 0.5177 0.7281 Uncertain 19_14708144_T->C 19 14708144 14708144 T C snp 64.77 0/1 93 7 4 3 0.43 intronic rs11878770 CLEC17A AU NM_001204118 exon10 c.14001+171T>C 0.505192 0.2857 Uncertain 19_14717590_G->A 19 14717590 14717590 G A snp 216.84 1/1 18 6 0 6 1.0 intronic rs10406981 CLEC17A AU NM_001204118 exon13 c.23832-214G>A 0.99401 1 Uncertain 19_14717791_A->G 19 14717791 14717791 A G snp 380.77 0/1 99 45 28 17 0.38 intronic rs10409868 CLEC17A AU NM_001204118 exon13 c.23832-13A>G 0.353035 0.3323 0.3821 0.4388 Uncertain 19_14719854_T->C 19 14719854 14719854 T C snp 1752.77 1/1 99 62 0 62 1.0 intronic rs10404194 CLEC17A AU NM_001204118 exon14 c.26903-1021T>C 0.769569 0.8611 Uncertain 19_14720026_C->T 19 14720026 14720026 C T snp 1581.77 1/1 99 53 0 53 1.0 intronic rs11085899 CLEC17A AU NM_001204118 exon14 c.26903-849C>T 0.258786 0.4355 Uncertain 19_14721019_C->T 19 14721019 14721019 C T snp 952.77 1/1 69 34 0 34 1.0 UTR3 rs6511944 CLEC17A AU 0.671526 0.8284 0.6678 0.8284 Uncertain 19_14740721_AGAG->- 19 14740721 14740724 AGAG - indel 280.73 0/1 99 8 3 5 0.63 intronic rs140150874 ADGRE3 AU NM_032571 exon3 c.10606-129_10606-126delAGAG 0.0499201 0.1181 Uncertain 19_14743902_C->T 19 14743902 14743902 C T snp 1677.77 1/1 99 59 0 59 1.0 intronic rs2045912 ADGRE3 AU NM_032571 exon4 c.13580+78C>T 0.509784 0.631 Uncertain 19_14744181_T->A 19 14744181 14744181 T A snp 768.77 1/1 57 27 0 27 1.0 intronic rs899217 ADGRE3 AU NM_032571 exon5 c.13870+67T>A 0.917133 0.8204 0.931669 Uncertain 19_14752003_T->C 19 14752003 14752003 T C snp 50.74 1/1 6 2 0 2 1.0 intronic rs8102930 ADGRE3 AU NM_032571 exon7 c.21986-227T>C 0.489816 0.4821 Uncertain 19_14752325_C->T 19 14752325 14752325 C T snp 6960.77 1/1 99 249 0 249 1.0 exonic rs45508602 ADGRE3 AU nonsynonymous SNV NM_001289159 exon7 c.G776A p.R259Q 0.857228 0.869 0.823077 0.8643 0.8711 1 T 0.000 P -0.976 T 0.01 T 0.004 T Pathogenic 19_14752608_C->T 19 14752608 14752608 C T snp 417.77 1/1 33 12 0 12 1.0 intronic rs8102999 ADGRE3 AU NM_032571 exon7 c.22184+180C>T 0.77516 0.8333 Uncertain 19_14762169_C->T 19 14762169 14762169 C T snp 54.74 1/1 6 2 0 2 1.0 intronic rs11670964 ADGRE3 AU NM_032571 exon10 c.31772+153C>T 0.489417 0.6151 Uncertain 19_14769339_C->G 19 14769339 14769339 C G snp 588.77 1/1 42 24 0 24 1.0 exonic rs4606855 ADGRE3 AU nonsynonymous SNV NM_001289158 exon4 c.G223C p.E75Q 0.855831 0.8849 0.793095 0.7747 0.8653 0.25 T 0.0 P -1.054 T 0.006 T 0.005 T Pathogenic 19_14779550_C->A 19 14779550 14779550 C A snp 474.77 1/1 36 14 0 14 1.0 intronic rs4239642 ADGRE3 AU NM_032571 exon15 c.49369-63C>A 0.857428 0.8948 0.788217 0.7810 0.8673 Uncertain 19_14804183_A->G 19 14804183 14804183 A G snp 620.77 0/1 99 53 25 28 0.53 intronic rs10407394 ZNF333 AU 0.599241 0.7272 Uncertain 19_14805604_T->C 19 14805604 14805604 T C snp 46.77 0/1 33 3 1 2 0.67 intronic rs3850140 ZNF333 AU NM_032433 exon3 c.1518-217T>C 0.707468 0.7867 Uncertain 19_14805719_T->C 19 14805719 14805719 T C snp 2166.77 1/1 99 72 0 72 1.0 intronic rs3850141 ZNF333 AU NM_032433 exon3 c.1518-102T>C 0.811701 0.8869 Uncertain 19_14806017_G->C 19 14806017 14806017 G C snp 550.77 1/1 42 15 0 15 1.0 intronic rs3813144 ZNF333 AU NM_032433 exon3 c.1642+72G>C 0.8125 0.8879 Uncertain 19_14806162_C->T 19 14806162 14806162 C T snp 222.77 0/1 99 14 6 8 0.57 intronic rs3813145 ZNF333 AU NM_032433 exon4 c.2074-215C>T 0.526957 0.6171 Uncertain 19_14810261_A->T 19 14810261 14810261 A T snp 56.74 1/1 6 2 0 2 1.0 intronic rs6511958 ZNF333 AU NM_032433 exon5 c.5790+168A>T 0.8127 0.8889 Uncertain 19_14817062_G->A 19 14817062 14817062 G A snp 2371.77 1/1 99 69 0 69 1.0 intronic rs4808319 ZNF333 AU NM_032433 exon7 c.13194-435G>A 0.691893 0.7778 0.6639 0.7905 Uncertain 19_14817145_G->T 19 14817145 14817145 G T snp 383.77 1/1 30 13 0 13 1.0 intronic rs4809215 ZNF333 AU NM_032433 exon7 c.13194-352G>T 0.812899 0.8889 Uncertain 19_14817548_T->A 19 14817548 14817548 T A snp 1588.77 1/1 99 57 0 57 1.0 exonic rs6511961 ZNF333 AU synonymous SNV NM_001300912 exon7 c.T474A p.T158T 0.829473 0.8889 0.706289 0.6950 0.8533 Uncertain 19_14818905_T->C 19 14818905 14818905 T C snp 126.03 1/1 12 4 0 4 1.0 intronic rs4807959 ZNF333 AU NM_032433 exon7 c.13282+1320T>C 0.8125 0.8889 Uncertain 19_14819310_-->AG 19 14819310 14819310 - AG indel 3415.73 1/1 99 65 0 65 1.0 intronic rs34925577 ZNF333 AU NM_032433 exon7 c.13282+1725insAG 0.812101 0.8889 Uncertain 19_14826849_T->C 19 14826849 14826849 T C snp 2235.77 1/1 99 77 0 77 1.0 intronic rs4078586 ZNF333 AU NM_032433 exon9 c.22620-74T>C 0.812899 0.8899 Uncertain 19_14829749_C->T 19 14829749 14829749 C T snp 1765.77 0/1 99 155 78 77 0.5 exonic rs3764626 ZNF333 AU nonsynonymous SNV NM_032433 exon12 c.C1610T p.A537V 0.48123 0.619 0.332308 0.3820 0.5941 0.2 T 0.0 P -1.038 T 0.373 T 0.066 T Pathogenic 19_14846897_T->A 19 14846897 14846897 T A snp 3074.77 0/1 99 250 113 137 0.55 UTR3 rs1859257 ADGRE2 AD 0.81849 0.8284 Uncertain 19_14847013_G->C 19 14847013 14847013 G C snp 2423.77 0/1 99 220 112 108 0.49 UTR3 rs1859258 ADGRE2 AD 0.203674 0.248 0.214747 0.2397 0.2612 Uncertain 19_14856949_C->A 19 14856949 14856949 C A snp 229.77 0/1 99 22 11 11 0.5 intronic rs2732788 ADGRE2 AD NM_001271052 exon4 c.9996-94C>A 0.263778 0.2986 Uncertain 19_14857791_-->A 19 14857791 14857791 - A indel 650.73 0/1 99 61 30 31 0.51 intronic rs34186967 ADGRE2 AD NM_001271052 exon5 c.10727+17insA 0.263179 0.2986 0.310232 0.3412 0.3103 Uncertain 19_14862430_C->G 19 14862430 14862430 C G snp 2894.77 0/1 99 250 129 121 0.48 exonic rs2524383 ADGRE2 AD nonsynonymous SNV NM_001271052 exon14 c.G1668C p.L556F 0.816494 0.8274 0.770260 0.7371 0.7955 1 T 1.0 P -0.992 T 0.0 T 0.0 T Pathogenic 19_14862555_T->A 19 14862555 14862555 T A snp 1661.77 0/1 99 141 73 68 0.48 intronic rs2524384 ADGRE2 AD NM_001271052 exon6 c.15436+72T>A 0.263179 0.2986 Uncertain 19_14862689_G->A 19 14862689 14862689 G A snp 41.77 0/1 70 4 2 2 0.5 intronic rs2524385 ADGRE2 AD NM_001271052 exon6 c.15436+206G>A 0.263778 0.2996 Uncertain 19_14866974_T->C 19 14866974 14866974 T C snp 2218.77 0/1 99 157 67 90 0.57 intronic rs2253472 ADGRE2 AD NM_001271052 exon9 c.20002-75T>C 0.807508 0.8333 Uncertain 19_14867186_G->A 19 14867186 14867186 G A snp 1334.77 0/1 99 97 49 48 0.49 intronic rs2524386 ADGRE2 AD NM_001271052 exon9 c.20110+29G>A 0.79353 0.8214 0.748808 0.7327 0.8010 Uncertain 19_14875201_G->T 19 14875201 14875201 G T snp 1053.77 0/1 99 100 55 45 0.45 intronic rs7253782 ADGRE2 AD NM_001271052 exon10 c.28197-43G>T 0.889976 0.9097 0.855032 0.8612 0.9220 Uncertain 19_14875388_G->A 19 14875388 14875388 G A snp 877.77 0/1 99 76 40 36 0.47 exonic rs35612307 ADGRE2 AD nonsynonymous SNV NM_001271052 exon10 c.C941T p.A314V 0.189896 0.1667 0.235810 0.2651 0.1955 0.18 T 0.0 P -1.060 T 0.294 T 0.085 T Pathogenic 19_14876867_C->A 19 14876867 14876867 C A snp 728.77 0/1 99 76 47 29 0.38 intronic rs118058123 ADGRE2 AD NM_001271052 exon14 c.29999-179C>A 0.0463259 0.0476 Uncertain 19_14877630_T->A 19 14877630 14877630 T A snp 499.77 0/1 99 32 16 16 0.5 intronic rs6511971 ADGRE2 AD NM_001271052 exon15 c.30742-159T>A 0.623602 0.4692 Uncertain 19_14877799_G->C 19 14877799 14877799 G C snp 210.77 0/1 99 142 123 19 0.13 exonic rs12976472 ADGRE2 AD nonsynonymous SNV NM_001271052 exon5 c.C478G p.L160V 0.318754 0.2219 0.2056 0.72 T 0.0 P -0.998 T 0.789 T 0.344 P Pathogenic 19_14877806_G->A 19 14877806 14877806 G A snp 121.77 0/1 99 135 120 15 0.11 exonic rs12976475 ADGRE2 AD synonymous SNV NM_001271052 exon5 c.C471T p.D157D 0.440695 0.3571 0.0560 0.0549 Uncertain 19_14877816_T->A 19 14877816 14877816 T A snp 55.77 0/1 84 131 119 12 0.09 exonic rs12985807 ADGRE2 AD nonsynonymous SNV NM_001271052 exon5 c.A461T p.K154I 0.403754 0.3383 0.0023 0.0029 0.23 T 0.0 P -1.015 T 0.114 T 0.074 T Pathogenic 19_14884946_A->G 19 14884946 14884946 A G snp 678.77 1/1 54 20 0 20 1.0 intronic rs2302090 ADGRE2 AD NM_001271052 exon17 c.37819+80A>G 0.594249 0.5298 Uncertain 19_14910438_C->T 19 14910438 14910438 C T snp 5896.77 1/1 99 209 1 208 1.0 exonic rs10415312 OR7C1 AU nonsynonymous SNV NM_198944 exon1 c.G511A p.E171K 0.96865 1 0.935030 0.9352 1 0.19 T 0.0 P -1.014 T 0.017 T 0.007 T ID=CM141904;DIS=Altered receptor function;TAG=FP;PUB=24316890 FP Pathogenic 19_14910573_C->T 19 14910573 14910573 C T snp 3697.77 1/1 99 129 1 128 0.99 exonic rs10415562 OR7C1 AU nonsynonymous SNV NM_198944 exon1 c.G376A p.V126I 0.839058 0.8869 0.792250 0.7849 0.8875 1 T 0.000 P -0.993 T 0.007 T 0.001 T ID=CM141907;DIS=Altered receptor function;TAG=FP;PUB=24316890 FP Pathogenic 19_14938616_T->C 19 14938616 14938616 T C snp 3238.77 0/1 99 238 112 126 0.53 exonic rs2190686 OR7A5 AU synonymous SNV NM_017506 exon1 c.A438G p.L146L 0.559105 0.6815 0.469245 0.4685 0.7120 Uncertain 19_14974930_G->A 19 14974930 14974930 G A snp 6561.77 1/1 99 229 0 229 1.0 intergenic rs10407452 OR7A10 AU 0.765775 0.9435 0.7253 0.9135 1 T 1.000 P -0.948 T Uncertain 19_14975040_G->A 19 14975040 14975040 G A snp 3260.77 0/1 99 250 118 132 0.53 intergenic rs10407682 OR7A10 AU 0.342851 0.3006 0.2730 0.2814 0.07 T 0.998 P -0.930 T Uncertain 19_14975368_A->G 19 14975368 14975368 A G snp 4479.77 1/1 99 143 0 143 1.0 intergenic rs10415965 OR7A10 AU 0.765775 0.9435 0.7253 0.9132 0.06 T 1.000 P -1.048 T Uncertain 19_14975427_A->G 19 14975427 14975427 A G snp 1564.77 0/1 99 118 57 61 0.52 intergenic rs10416150 OR7A10 AU 0.140375 0.1488 0.1357 0.1261 0.03 T 0.999 N -1.080 T Uncertain 19_14975471_C->T 19 14975471 14975471 C T snp 2901.77 1/1 99 103 0 103 1.0 intergenic rs11085912 OR7A10 AU 0.765974 0.9435 0.7345 0.9125 Uncertain 19_14975544_C->A 19 14975544 14975544 C A snp 600.77 0/1 99 64 37 27 0.42 intergenic rs10415572 OR7A10 AU 0.140775 0.1488 0.1533 0.1478 Uncertain 19_14991643_G->A 19 14991643 14991643 G A snp 2747.77 0/1 99 250 131 119 0.48 exonic rs10401818 OR7A17 AU synonymous SNV NM_030901 exon1 c.C525T p.P175P 0.277556 0.2867 0.282024 0.2234 0.2428 Uncertain 19_14991963_C->A 19 14991963 14991963 C A snp 1498.77 0/1 99 122 63 59 0.48 exonic rs10404119 OR7A17 AU nonsynonymous SNV NM_030901 exon1 c.G205T p.A69S 0.331669 0.6052 0.255882 0.3249 0.6188 0.08 T 0.0 P -1.004 T 0.033 T 0.075 T Pathogenic 19_14992031_A->G 19 14992031 14992031 A G snp 1223.77 0/1 99 100 49 51 0.51 exonic rs10405129 OR7A17 AU nonsynonymous SNV NM_030901 exon1 c.T137C p.I46T 0.333067 0.6121 0.254771 0.3249 0.6249 0 D 0.003 P -1.053 T 0.636 T 0.537 P Pathogenic 19_14992042_A->G 19 14992042 14992042 A G snp 1056.77 0/1 99 94 47 47 0.5 exonic rs10405136 OR7A17 AU synonymous SNV NM_030901 exon1 c.T126C p.N42N 0.562101 0.6984 0.476007 0.5537 0.7219 Uncertain 19_14992045_C->T 19 14992045 14992045 C T snp 1049.77 0/1 99 94 46 48 0.51 exonic rs10404335 OR7A17 AU synonymous SNV NM_030901 exon1 c.G123A p.G41G 0.340056 0.6121 0.266072 0.3396 0.6212 Uncertain 19_14992178_-->TATT 19 14992178 14992178 - TATT indel 338 0/1 12 23 1 22 0.96 upstream rs368502877 OR7A17 AU 0.0208 0.0265 Uncertain 19_15052983_-->ATC 19 15052983 15052983 - ATC indel 14376.7 1/1 99 248 0 248 1.0 exonic rs3044711 OR7C2 AU nonframeshift insertion NM_012377 exon1 c.683_684insATC p.V228delinsVS 0.99381 1 0.988578 0.9901 1 Uncertain 19_15060984_G->- 19 15060984 15060984 G - indel 403.73 0/1 99 29 14 15 0.52 UTR3 rs5827264 SLC1A6 AU 0.259784 0.3264 0.236614 0.4003 0.4549 Uncertain 19_15061216_G->A 19 15061216 15061216 G A snp 668.77 0/1 99 59 31 28 0.47 intronic rs12461006 SLC1A6 AU NM_005071 exon1 c.196+14G>A 0.14976 0.1349 0.143395 0.1065 0.1171 Uncertain 19_15063757_A->G 19 15063757 15063757 A G snp 6958.77 1/1 99 250 0 250 1.0 exonic rs2229896 SLC1A6 AU synonymous SNV NM_005071 exon8 c.T1482C p.I494I 0.252596 0.3244 0.206213 0.1690 0.3282 Uncertain 19_15064858_A->C 19 15064858 15064858 A C snp 1031.77 1/1 75 36 0 36 1.0 intronic rs2269913 SLC1A6 AU NM_005071 exon3 c.3940-88A>C 0.757188 0.7222 Uncertain 19_15065169_T->C 19 15065169 15065169 T C snp 216.84 1/1 18 7 0 7 1.0 intronic rs757465 SLC1A6 AU NM_005071 exon3 c.4135+28T>C 0.75639 0.7222 0.717629 0.6973 0.7127 Uncertain 19_15072787_A->T 19 15072787 15072787 A T snp 1614.77 1/1 99 55 0 55 1.0 UTR3 rs3827000 SLC1A6 AU 0.755591 0.7222 0.718361 0.6989 0.7114 Uncertain 19_15073226_T->C 19 15073226 15073226 T C snp 870.77 0/1 99 77 44 33 0.43 intronic rs7247183 SLC1A6 AU NM_001272088 exon1 c.348+69T>C 0.13119 0.1052 Uncertain 19_15073303_C->T 19 15073303 15073303 C T snp 107.77 0/1 99 11 7 4 0.36 intronic rs62113268 SLC1A6 AU NM_001272088 exon1 c.348+146C>T 0.182907 0.1091 Uncertain 19_15075020_A->G 19 15075020 15075020 A G snp 1007.77 1/1 75 29 0 29 1.0 intronic rs10407669 SLC1A6 AU NM_001272088 exon2 c.2321-110A>G 0.755591 0.7222 Uncertain 19_15082412_G->C 19 15082412 15082412 G C snp 56.74 1/1 6 2 0 2 1.0 intronic rs2285980 SLC1A6 AU NM_001272088 exon4 c.9739-136G>C 0.586462 0.6825 Uncertain 19_15082788_G->A 19 15082788 15082788 G A snp 150.77 0/1 99 18 12 6 0.33 intronic rs78426630 SLC1A6 AU NM_001272088 exon4 c.9877+102G>A 0.110224 0.2123 Uncertain 19_15083485_T->C 19 15083485 15083485 T C snp 2050.77 0/1 99 177 90 87 0.49 intronic rs3746294 SLC1A6 AU NM_001272088 exon5 c.10708-32T>C 0.324281 0.3581 0.283898 0.3157 0.3554 Uncertain 19_15083693_C->A 19 15083693 15083693 C A snp 1225.77 1/1 90 37 0 37 1.0 exonic rs3746295 SLC1A6 AU synonymous SNV NM_005071 exon1 c.G30T p.L10L 0.552117 0.6567 0.528774 0.5873 0.6732 0 D 1.0 P -0.904 T 0.018 T 0.011 T Likely benign 19_15083795_C->T 19 15083795 15083795 C T snp 134.03 1/1 12 4 0 4 1.0 intronic rs8103212 SLC1A6 AU NM_005071 exon9 c.22724+65C>T 0.58107 0.6825 Uncertain 19_15121390_A->C 19 15121390 15121390 A C snp 692.77 0/1 99 96 59 37 0.39 upstream rs78628129 CCDC105 AU 0.105431 0.2063 Uncertain 19_15122045_C->A 19 15122045 15122045 C A snp 1181.77 0/1 99 111 60 51 0.46 exonic rs35647251 CCDC105 AU synonymous SNV NM_173482 exon1 c.C408A p.T136T 0.0996406 0.2073 0.078713 0.2546 0.3849 Uncertain 19_15124474_C->T 19 15124474 15124474 C T snp 859.77 0/1 99 64 30 34 0.53 intronic rs11085935 CCDC105 AU NM_173482 exon2 c.2846-9C>T 0.536542 0.3968 0.593342 0.5445 0.4021 Uncertain 19_15131180_A->G 19 15131180 15131180 A G snp 121.77 0/1 99 8 3 5 0.63 intronic rs11881113 CCDC105 AU NM_173482 exon3 c.9635-92A>G 0.522963 0.7054 Uncertain 19_15131213_G->T 19 15131213 15131213 G T snp 261.77 0/1 99 16 7 9 0.56 intronic rs7248834 CCDC105 AU NM_173482 exon3 c.9635-59G>T 0.79992 0.8681 Uncertain 19_15131261_C->T 19 15131261 15131261 C T snp 422.77 0/1 99 30 14 16 0.53 intronic rs4405675 CCDC105 AU NM_173482 exon3 c.9635-11C>T 0.519569 0.7034 0.440489 0.5083 0.6975 Uncertain 19_15131330_G->A 19 15131330 15131330 G A snp 718.77 0/1 99 62 32 30 0.48 exonic rs35352238 CCDC105 AU nonsynonymous SNV NM_173482 exon3 c.G733A p.V245M 0.314297 0.5367 0.211441 0.3100 0.5384 0.23 T 0.009 P -0.903 T 1.0 D 0.954 D Pathogenic 19_15132574_C->G 19 15132574 15132574 C G snp 1837.77 0/1 99 158 83 75 0.47 intronic rs757463 CCDC105 AU NM_173482 exon6 c.10980-43C>G 0.837061 0.8462 0.838536 0.8534 0.8119 Uncertain 19_15133762_G->C 19 15133762 15133762 G C snp 7806.77 1/1 99 250 0 250 1.0 exonic rs8111625 CCDC105 AU nonsynonymous SNV NM_173482 exon7 c.G1331C p.S444T 0.859824 0.9077 0.856121 0.8364 0.9179 0.61 T 0.0 P -1.041 T 0.0 T 0.0 T Pathogenic 19_15133787_C->A 19 15133787 15133787 C A snp 3224.61 0/1 99 250 128 122 0.49 exonic rs10424547 CCDC105 AU synonymous SNV NM_173482 exon7 c.C1356A p.I452I 0.321486 0.5208 0.213319 0.3016 0.5236 Uncertain 19_15133926_C->A 19 15133926 15133926 C A snp 1108.77 0/1 99 83 42 41 0.49 exonic rs8112667 CCDC105 AU nonsynonymous SNV NM_173482 exon7 c.C1495A p.P499T 0.340455 0.5208 0.212646 0.3383 0.5413 0 D 0.0 P -0.932 T 0.0 T 0.0 T Pathogenic 19_15165818_A->C 19 15165818 15165818 A C snp 385.77 1/1 30 10 0 10 1.0 intronic rs3181162 CASP14 AU NM_012114 exon5 c.2906-150A>C 0.377396 0.4167 Uncertain 19_15166997_C->T 19 15166997 15166997 C T snp 1948.77 1/1 99 69 0 69 1.0 UTR3 rs11574685 CASP14 AU 0.267971 0.3978 Uncertain 19_15198263_A->G 19 15198263 15198263 A G snp 7954.77 1/1 99 250 0 250 1.0 exonic rs8105277 OR1I1 AU synonymous SNV NM_001004713 exon1 c.A387G p.P129P 0.9998 0.999 0.999462 0.9997 0.9987 Uncertain 19_15198292_C->G 19 15198292 15198292 C G snp 3443.77 0/1 99 250 128 122 0.49 exonic rs8104843 OR1I1 AU nonsynonymous SNV NM_001004713 exon1 c.C416G p.P139R 0.671725 0.622 0.706059 0.8009 0.6215 1 T 0.0 P -1.007 T 0.0 T 0.0 T Pathogenic 19_15198363_A->C 19 15198363 15198363 A C snp 3222.65 0/1 99 250 134 116 0.46 exonic rs76524797 OR1I1 AU nonsynonymous SNV NM_001004713 exon1 c.A487C p.M163L 0.0359425 0.1101 0.018607 0.0215 0.1068 0.32 T 0.000 P -1.045 T 0.438 T 0.216 T ID=COSM148516;OCCURENCE=1(stomach) Pathogenic 19_15198507_T->C 19 15198507 15198507 T C snp 2910.77 0/1 99 249 127 122 0.49 exonic rs8108721 OR1I1 AU nonsynonymous SNV NM_001004713 exon1 c.T631C p.F211L 0.672923 0.622 0.706981 0.8013 0.6211 1 T 0.0 P -0.930 T 0.0 T 0.003 T Pathogenic 19_15198631_A->C 19 15198631 15198631 A C snp 1491.77 0/1 99 164 100 64 0.39 exonic rs8105737 OR1I1 AU nonsynonymous SNV NM_001004713 exon1 c.A755C p.Y252S 0.490815 0.3849 0.578656 0.6064 0.3826 0.02 T 0.370 P -0.911 T 0.999 D 0.979 D Pathogenic 19_15198720_A->T 19 15198720 15198720 A T snp 1792.77 0/1 99 123 51 72 0.59 exonic rs75323205 OR1I1 AU nonsynonymous SNV NM_001004713 exon1 c.A844T p.I282F 0.0359425 0.1101 0.018607 0.0215 0.1068 0.02 T 0.496 P -0.949 T 0.999 D 0.972 D ID=COSM148517;OCCURENCE=1(stomach) Pathogenic 19_15198764_T->C 19 15198764 15198764 T C snp 2933.77 1/1 99 100 0 100 1.0 exonic rs12975625 OR1I1 AU synonymous SNV NM_001004713 exon1 c.T888C p.D296D 0.903954 0.8006 0.922805 0.9116 0.7992 Uncertain 19_15223466_A->G 19 15223466 15223466 A G snp 741.77 1/1 54 26 0 26 1.0 intronic rs4808977 SYDE1 AU NM_033025 exon7 c.5138+84A>G 0.912939 0.8681 Uncertain 19_15224225_G->C 19 15224225 15224225 G C snp 1518.77 1/1 99 40 0 40 1.0 intronic rs8109071 SYDE1 AU NM_033025 exon8 c.6126-145G>C 0.666134 0.5536 Uncertain 19_15224265_G->C 19 15224265 15224265 G C snp 2999.77 1/1 99 100 0 100 1.0 intronic rs8109089 SYDE1 AU NM_033025 exon8 c.6126-105G>C 0.63738 0.5506 Uncertain 19_15226611_C->A 19 15226611 15226611 C A snp 4380.77 1/1 99 148 1 147 0.99 intronic rs2074261 ILVBL AU NM_006844 exon3 c.598-49C>A 0.630591 0.5417 0.712979 0.6649 0.5354 Uncertain 19_15226970_G->A 19 15226970 15226970 G A snp 7546.77 1/1 99 250 2 248 0.99 exonic rs2074262 ILVBL AU synonymous SNV NM_006844 exon12 c.C1464T p.L488L 0.411741 0.4782 0.423266 0.4692 0.4658 Uncertain 19_15227030_G->A 19 15227030 15227030 G A snp 8132.77 1/1 99 250 1 249 1.0 exonic rs2074263 ILVBL AU synonymous SNV NM_006844 exon12 c.C1404T p.G468G 0.631789 0.5417 0.712934 0.6649 0.5376 Uncertain 19_15227798_G->C 19 15227798 15227798 G C snp 3569.77 1/1 99 134 0 134 1.0 intronic rs12972958 ILVBL AU NM_006844 exon6 c.1271+465G>C 0.635583 0.5784 Uncertain 19_15230654_G->A 19 15230654 15230654 G A snp 93.28 1/1 9 3 0 3 1.0 intronic rs2074264 ILVBL AU NM_006844 exon10 c.4730-138G>A 0.507788 0.4524 Uncertain 19_15233581_C->A 19 15233581 15233581 C A snp 1862.77 0/1 99 159 80 79 0.5 exonic rs2074265 ILVBL AU synonymous SNV NM_006844 exon6 c.G639T p.L213L 0.556909 0.5635 0.558127 0.4929 0.6013 Uncertain 19_15233631_G->A 19 15233631 15233631 G A snp 2505.77 0/1 99 215 116 99 0.46 intronic rs2074266 ILVBL AU NM_006844 exon11 c.7553+16G>A 0.449481 0.5635 0.440258 0.4547 0.6023 Uncertain 19_15235932_G->A 19 15235932 15235932 G A snp 584.77 0/1 99 40 15 25 0.63 intronic rs4141356 ILVBL AU NM_006844 exon15 c.9818+52G>A 0.46226 0.5486 Uncertain 19_15271771_G->A 19 15271771 15271771 G A snp 801.77 0/1 99 74 42 32 0.43 exonic rs1044009 NOTCH3 AD nonsynonymous SNV NM_000435 exon33 c.C6668T p.A2223V 0.629393 0.5724 0.734896 0.7591 0.6421 0.32 T 0.0 P -0.953 T 0.001 T 0.003 T Pathogenic 19_15273221_T->C 19 15273221 15273221 T C snp 113.77 0/1 99 10 5 5 0.5 intronic rs757472 NOTCH3 AD NM_000435 exon2 c.1803-54T>C 0.83147 0.8016 0.8599 0.8009 Uncertain 19_15273231_A->G 19 15273231 15273231 A G snp 107.77 0/1 99 14 9 5 0.36 intronic rs4809028 NOTCH3 AD NM_000435 exon2 c.1803-44A>G 0.86861 0.8016 0.922113 0.8704 0.7987 Uncertain 19_15273248_A->C 19 15273248 15273248 A C snp 181.77 0/1 99 22 12 10 0.45 intronic rs4809029 NOTCH3 AD NM_000435 exon2 c.1803-27A>C 0.870407 0.8016 0.923804 0.8736 0.8039 Uncertain 19_15273381_A->G 19 15273381 15273381 A G snp 949.77 0/1 99 67 23 44 0.66 intronic rs4809030 NOTCH3 AD NM_000435 exon2 c.1901+8A>G 0.86901 0.8016 0.923266 0.8745 0.8065 Uncertain 19_15273584_T->G 19 15273584 15273584 T G snp 34.77 0/1 63 7 4 3 0.43 intronic rs4809031 NOTCH3 AD NM_000435 exon2 c.1901+211T>G 0.844249 0.7877 Uncertain 19_15276007_C->A 19 15276007 15276007 C A snp 402.77 0/1 99 24 12 12 0.5 intronic rs2886698 NOTCH3 AD NM_000435 exon3 c.4706-171C>A 0.624401 0.5724 Uncertain 19_15276055_C->G 19 15276055 15276055 C G snp 831.77 0/1 99 65 32 33 0.51 intronic rs2074617 NOTCH3 AD NM_000435 exon3 c.4706-123C>G 0.866613 0.8006 Uncertain 19_15276143_C->T 19 15276143 15276143 C T snp 1663.77 0/1 99 138 66 72 0.52 intronic rs2074618 NOTCH3 AD NM_000435 exon3 c.4706-35C>T 0.866613 0.8006 0.922190 0.8729 0.8047 Uncertain 19_15276919_G->A 19 15276919 15276919 G A snp 1587.77 0/1 99 117 51 66 0.56 intronic rs2074619 NOTCH3 AD NM_000435 exon4 c.5430+17G>A 0.866613 0.8006 0.922190 0.8717 0.8020 Uncertain 19_15276923_C->T 19 15276923 15276923 C T snp 1595.77 0/1 99 111 46 65 0.59 intronic rs10416777 NOTCH3 AD NM_000435 exon4 c.5430+21C>T 0.866613 0.8006 0.922344 0.8718 0.8022 Uncertain 19_15277006_T->C 19 15277006 15277006 T C snp 219.77 0/1 99 16 9 7 0.44 intronic rs45591935 NOTCH3 AD NM_000435 exon4 c.5430+104T>C 0.865815 0.8006 Uncertain 19_15277009_C->T 19 15277009 15277009 C T snp 216.77 0/1 99 14 7 7 0.5 intronic rs62113791 NOTCH3 AD NM_000435 exon4 c.5430+107C>T 0.866613 0.8006 Uncertain 19_15277010_A->G 19 15277010 15277010 A G snp 216.77 0/1 99 14 7 7 0.5 intronic rs45504393 NOTCH3 AD NM_000435 exon4 c.5430+108A>G 0.866613 0.8006 Uncertain 19_15277027_G->A 19 15277027 15277027 G A snp 147.77 0/1 99 9 4 5 0.56 intronic rs10415431 NOTCH3 AD NM_000435 exon4 c.5430+125G>A 0.871406 0.8016 Uncertain 19_15277938_C->T 19 15277938 15277938 C T snp 1365.77 0/1 99 107 56 51 0.48 intronic rs1548554 NOTCH3 AD NM_000435 exon5 c.6587-121C>T 0.870008 0.8016 Uncertain 19_15278057_A->G 19 15278057 15278057 A G snp 2995.77 0/1 99 247 114 133 0.54 splicing rs1548555 NOTCH3 AD NM_000435 exon5 c.6587-2A>G 0.870008 0.8016 0.923651 0.8741 0.8074 Pathogenic 19_15281386_C->A 19 15281386 15281386 C A snp 1693.77 0/1 99 124 56 68 0.55 intronic rs2074620 NOTCH3 AD NM_000435 exon7 c.9892+22C>A 0.539537 0.5685 0.624403 0.7046 0.6133 Uncertain 19_15285052_T->C 19 15285052 15285052 T C snp 567.77 0/1 99 55 34 21 0.38 exonic rs1044006 NOTCH3 AD synonymous SNV NM_000435 exon25 c.A4563G p.P1521P 0.871805 0.8006 0.926139 0.8812 0.8188 Uncertain 19_15285272_T->C 19 15285272 15285272 T C snp 1308.77 0/1 99 112 53 59 0.53 intronic rs10422818 NOTCH3 AD NM_000435 exon9 c.13739+61T>C 0.850439 0.7996 Uncertain 19_15289613_A->T 19 15289613 15289613 A T snp 238.77 0/1 99 28 19 9 0.32 intronic rs11670823 NOTCH3 AD NM_000435 exon11 c.18161-20A>T 0.517173 0.5556 0.568841 0.6666 0.5973 Uncertain 19_15290125_G->A 19 15290125 15290125 G A snp 1570.77 0/1 99 135 70 65 0.48 ncRNA_exonic rs56061231 MIR6795 AU 0.516174 0.5556 0.568661 0.6424 0.5651 Uncertain 19_15290412_G->A 19 15290412 15290412 G A snp 591.77 0/1 99 44 25 19 0.43 intronic rs2074621 NOTCH3 AD NM_000435 exon13 c.18835+105G>A 0.625799 0.5565 Uncertain 19_15291252_C->T 19 15291252 15291252 C T snp 68.77 0/1 97 7 4 3 0.43 intronic NOTCH3 AD NM_000435 exon14 c.19595+185C>T Uncertain 19_15292088_G->C 19 15292088 15292088 G C snp 119.77 0/1 30 6 2 4 0.67 intronic rs7257550 NOTCH3 AD NM_000435 exon16 c.20501+115G>C 0.849441 0.8304 Uncertain 19_15292366_C->T 19 15292366 15292366 C T snp 388.77 0/1 99 32 19 13 0.41 intronic rs11669982 NOTCH3 AD NM_000435 exon17 c.20914-20C>T 0.739217 0.8294 0.802717 0.8015 0.7941 Uncertain 19_15292437_T->C 19 15292437 15292437 T C snp 1416.77 0/1 99 116 55 61 0.53 exonic rs1043997 NOTCH3 AD synonymous SNV NM_000435 exon17 c.A2742G p.P914P 0.739018 0.8284 0.790486 0.8019 0.8040 Uncertain 19_15294991_C->T 19 15294991 15294991 C T snp 358.77 0/1 99 36 21 15 0.42 intronic rs2074616 NOTCH3 AD NM_000435 exon18 c.23633-114C>T 0.753594 0.8681 Uncertain 19_15295134_G->A 19 15295134 15295134 G A snp 1858.77 0/1 99 211 120 91 0.43 exonic rs1043996 NOTCH3 AD synonymous SNV NM_000435 exon16 c.C2538T p.C846C 0.519968 0.5933 0.566431 0.6427 0.6073 Uncertain 19_15298270_A->G 19 15298270 15298270 A G snp 56.77 0/1 85 10 7 3 0.3 intronic rs10408984 NOTCH3 AD NM_000435 exon23 c.26677+121A>G 0.760383 0.869 Uncertain 19_15300069_T->C 19 15300069 15300069 T C snp 3010.77 0/1 99 250 126 124 0.5 intronic rs10423702 NOTCH3 AD NM_000435 exon27 c.28611-14T>C 0.854233 0.869 0.889051 0.8572 0.8677 Uncertain 19_15302844_T->C 19 15302844 15302844 T C snp 2692.77 0/1 99 199 95 104 0.52 exonic rs1043994 NOTCH3 AD synonymous SNV NM_000435 exon4 c.A606G p.A202A 0.855831 0.871 0.889282 0.8581 0.8673 Uncertain 19_15469602_C->T 19 15469602 15469602 C T snp 770.77 1/1 57 21 0 21 1.0 intronic rs2024164 AKAP8 AU NM_005858 exon2 c.4052-175C>T 0.988618 0.999 Uncertain 19_15471856_T->C 19 15471856 15471856 T C snp 5022.77 1/1 99 191 0 191 1.0 intronic rs4809184 AKAP8 AU NM_005858 exon3 c.6064+67T>C 0.865216 0.995 Uncertain 19_15472375_G->A 19 15472375 15472375 G A snp 264.8 1/1 21 7 0 7 1.0 intronic rs12710298 AKAP8 AU NM_005858 exon4 c.6814-164G>A 0.832668 0.995 Uncertain 19_15485350_C->T 19 15485350 15485350 C T snp 4111.77 1/1 99 142 0 142 1.0 intronic rs4809185 AKAP8 AU NM_005858 exon12 c.19688-63C>T 0.835663 0.995 0.777267 Uncertain 19_15490485_C->T 19 15490485 15490485 C T snp 1486.77 0/1 99 149 82 67 0.45 intronic rs57295859 AKAP8 AU NM_005858 exon14 c.24798-38C>T 0.149361 0.3998 0.081231 0.1372 0.3581 Uncertain 19_15508130_G->A 19 15508130 15508130 G A snp 1601.77 1/1 99 62 1 61 0.98 intronic rs7247749 AKAP8L AU NM_001291478 exon3 c.17159+39G>A 0.832468 0.995 0.785255 0.7889 0.9967 Uncertain 19_15508362_G->C 19 15508362 15508362 G C snp 2151.77 1/1 99 76 0 76 1.0 exonic rs2058322 AKAP8L AU nonsynonymous SNV NM_001291478 exon11 c.C1191G p.H397Q 1 1 1 1 0.46 T 0.000 P -1.021 T 0.0 T 0.0 T Pathogenic 19_15514660_G->A 19 15514660 15514660 G A snp 271.77 0/1 99 12 4 8 0.67 intronic rs7246816 AKAP8L AU NM_001291478 exon11 c.23594+134G>A 0.21885 0.4365 0.3354 0.5072 Uncertain 19_15529989_T->G 19 15529989 15529989 T G snp 37.77 0/1 66 7 5 2 0.29 upstream rs145008437 AKAP8L AU 0.0125799 0.0546 Uncertain 19_15533821_A->G 19 15533821 15533821 A G snp 44.74 1/1 6 2 0 2 1.0 UTR3 rs7254099 WIZ AU 0.863419 0.995 Uncertain 19_15536604_-->AGGAGGAGGAGGAGGAGG 19 15536604 15536604 - AGGAGGAGGAGGAGGAGG indel 285.87 1/1 15 14 0 14 1.0 intronic WIZ AU NM_021241 exon4 c.2693+25insAGGAGGAGGAGGAGGAGG Uncertain 19_15539439_A->G 19 15539439 15539439 A G snp 849.77 1/1 63 26 0 26 1.0 intronic rs887898 WIZ AU NM_021241 exon5 c.4458+1095A>G 0.846246 0.995 Uncertain 19_15549255_C->T 19 15549255 15549255 C T snp 165.9 1/1 15 6 0 6 1.0 intronic rs1005953 WIZ AU NM_021241 exon6 c.14054+1315C>T 0.844449 0.9931 Uncertain 19_15549939_C->T 19 15549939 15549939 C T snp 3937.77 1/1 99 141 2 139 0.99 intronic rs929613 WIZ AU NM_021241 exon6 c.14054+1999C>T 0.777356 0.9921 0.7587 1 Uncertain 19_15563391_G->A 19 15563391 15563391 G A snp 610.77 1/1 48 18 0 18 1.0 intronic rs2304201 RASAL3 AU NM_022904 exon3 c.863-77G>A 0.64377 0.8194 Uncertain 19_15580694_G->A 19 15580694 15580694 G A snp 290.77 0/1 99 32 19 13 0.41 exonic rs61734899 PGLYRP2 AU nonsynonymous SNV NM_052890 exon4 c.C1390T p.H464Y 0.0247604 0.006 0.017566 0.0196 0.0095 0.21 T 0.801 D -1.073 T 0.002 T 0.009 T Pathogenic 19_15587067_T->A 19 15587067 15587067 T A snp 2684.77 0/1 99 182 76 106 0.58 exonic rs35927052 PGLYRP2 AU synonymous SNV NM_052890 exon2 c.A414T p.I138I 0.0245607 0.006 0.020606 0.0164 0.0086 Uncertain 19_15587103_C->T 19 15587103 15587103 C T snp 3130.77 0/1 99 216 89 127 0.59 exonic rs35973013 PGLYRP2 AU synonymous SNV NM_052890 exon2 c.G378A p.A126A 0.0245607 0.006 0.020606 0.0164 0.0086 Uncertain 19_15587472_T->C 19 15587472 15587472 T C snp 43.77 0/1 72 4 2 2 0.5 intronic rs1560727 PGLYRP2 AU NM_052890 exon4 c.7946+53T>C 0.308107 0.3065 Uncertain 19_15636437_T->C 19 15636437 15636437 T C snp 88.28 1/1 9 3 0 3 1.0 intronic rs73512634 CYP4F22 AR NM_173483 exon3 c.222+68T>C 0.0389377 0.0079 Uncertain 19_15640669_G->A 19 15640669 15640669 G A snp 581.77 0/1 99 62 34 28 0.45 splicing rs73512652 CYP4F22 AR NM_173483 exon4 c.4517+5G>A 0.0389377 0.0079 0.033907 0.0349 0.0075 Pathogenic 19_15648867_G->T 19 15648867 15648867 G T snp 1339.77 0/1 99 112 53 59 0.53 intronic rs28631843 CYP4F22 AR NM_173483 exon7 c.12657+63G>T 0.0808706 0.0119 Uncertain 19_15651543_C->T 19 15651543 15651543 C T snp 37.77 0/1 66 17 14 3 0.18 intronic CYP4F22 AR NM_173483 exon8 c.15381+15C>T Uncertain 19_15651549_AT->- 19 15651549 15651550 AT - indel 546.73 1/1 42 14 0 14 1.0 intronic rs372183725 CYP4F22 AR NM_173483 exon8 c.15381+21_15381+22delAT 0.7750 0.8742 Uncertain 19_15651551_T->G 19 15651551 15651551 T G snp 505.77 1/1 39 14 0 14 1.0 intronic rs372614865 CYP4F22 AR NM_173483 exon8 c.15381+23T>G 0.7762 0.8749 Uncertain 19_15651553_C->G 19 15651553 15651553 C G snp 501.77 1/1 39 14 0 14 1.0 intronic rs62113202 CYP4F22 AR NM_173483 exon8 c.15381+25C>G 0.805312 0.8899 0.7755 0.8748 Uncertain 19_15651556_-->AGC 19 15651556 15651556 - AGC indel 559.73 1/1 42 14 0 14 1.0 intronic rs374797305 CYP4F22 AR NM_173483 exon8 c.15381+28insAGC 0.203141 0.7719 0.8708 Uncertain 19_15651560_C->G 19 15651560 15651560 C G snp 516.77 1/1 39 14 0 14 1.0 intronic rs62113205 CYP4F22 AR NM_173483 exon8 c.15381+32C>G 0.805911 0.8899 0.7652 0.8669 Uncertain 19_15651563_G->- 19 15651563 15651563 G - indel 362.73 1/1 42 14 0 14 1.0 intronic rs139932061 CYP4F22 AR NM_173483 exon8 c.15381+35delG 0.376949 0.7678 0.8686 Uncertain 19_15651564_A->T 19 15651564 15651564 A T snp 466.77 1/1 36 14 0 14 1.0 intronic rs60465772 CYP4F22 AR NM_173483 exon8 c.15381+36A>T 0.804113 0.8899 0.7671 0.8677 Uncertain 19_15651568_C->A 19 15651568 15651568 C A snp 520.77 1/1 39 14 0 14 1.0 intronic rs55832992 CYP4F22 AR NM_173483 exon8 c.15381+40C>A 0.807907 0.8929 0.7603 0.8628 Uncertain 19_15658813_A->T 19 15658813 15658813 A T snp 285.77 0/1 99 31 18 13 0.42 intronic rs62113245 CYP4F22 AR NM_173483 exon11 c.22771-105A>T Uncertain 19_15661384_T->- 19 15661384 15661384 T - indel 549.73 0/1 99 24 9 15 0.63 intronic rs35191310 CYP4F22 AR NM_173483 exon13 c.25337-100delT 0.091254 0.2421 Uncertain 19_15726487_G->T 19 15726487 15726487 G T snp 3734.77 1/1 99 137 0 137 1.0 exonic rs4646523 CYP4F8 AU unknown 0.524161 0.4266 0.597062 0.5814 0.4180 Uncertain 19_15730498_-->C 19 15730498 15730498 - C indel 7308.73 1/1 99 165 0 165 1.0 exonic rs55848814 CYP4F8 AU unknown 1 1 1 1 Uncertain 19_15730745_TAA->- 19 15730745 15730747 TAA - indel 399.77 1/1 21 8 0 8 1.0 intronic rs4019754 CYP4F8 AU NM_007253 exon5 c.4145+173_4145+175delTAA 0.391573 0.253 Uncertain 19_15739084_T->C 19 15739084 15739084 T C snp 3211.76 1/1 99 100 1 99 0.99 intronic rs4239613 CYP4F8 AU NM_007253 exon10 c.12684-27T>C 0.71246 0.7173 0.732354 0.7344 0.7387 Uncertain 19_15739274_C->T 19 15739274 15739274 C T snp 7254.77 1/1 99 250 0 250 1.0 intronic rs2056820 CYP4F8 AU NM_007253 exon10 c.12818+29C>T 0.386781 0.252 0.481668 0.4661 0.2711 Uncertain 19_15739315_T->C 19 15739315 15739315 T C snp 7538.77 1/1 99 250 0 250 1.0 intronic rs2056821 CYP4F8 AU NM_007253 exon11 c.12913-25T>C 0.71246 0.7173 0.738874 0.7345 0.7379 Uncertain 19_15739597_A->C 19 15739597 15739597 A C snp 6540.77 1/1 99 241 1 240 1.0 exonic rs2056822 CYP4F8 AU unknown 0.71246 0.7173 0.739159 0.7341 0.7373 Uncertain 19_15739992_T->C 19 15739992 15739992 T C snp 632.77 1/1 48 20 0 20 1.0 intronic rs2239366 CYP4F8 AU NM_007253 exon13 c.13575-10T>C 0.71266 0.7173 0.731615 0.7554 0.7562 Uncertain 19_15740220_C->T 19 15740220 15740220 C T snp 6057.77 1/1 99 217 0 217 1.0 UTR3 rs4239614 CYP4F8 AU 0.712061 0.7173 0.743008 Uncertain 19_15740268_C->G 19 15740268 15740268 C G snp 3185.74 1/1 99 100 0 100 1.0 UTR3 rs2239367 CYP4F8 AU 0.720048 0.7173 Uncertain 19_15740275_G->A 19 15740275 15740275 G A snp 2649.77 1/1 99 85 0 85 1.0 UTR3 rs2283605 CYP4F8 AU 0.709864 0.7173 Uncertain 19_15754893_A->G 19 15754893 15754893 A G snp 7623.77 1/1 99 245 0 245 1.0 intronic rs2203998 CYP4F3 AU NM_001199208 exon3 c.2636+32A>G 0.524161 0.6954 0.4327 0.6778 Uncertain 19_15754975_C->T 19 15754975 15754975 C T snp 4993.77 1/1 99 165 0 165 1.0 intronic rs2203999 CYP4F3 AU NM_001199208 exon3 c.2636+114C>T 0.521965 0.6954 Uncertain 19_15756762_G->A 19 15756762 15756762 G A snp 1372.77 0/1 99 109 53 56 0.51 intronic rs4239620 CYP4F3 AU NM_000896 exon3 c.4448+89G>A 0.170128 0.4692 Uncertain 19_15757927_T->C 19 15757927 15757927 T C snp 4740.77 1/1 99 165 0 165 1.0 intronic rs1290626 CYP4F3 AU NM_001199208 exon4 c.5690+12T>C 0.7502 0.8492 0.684376 0.6554 0.8436 Uncertain 19_15760213_C->T 19 15760213 15760213 C T snp 1124.77 0/1 99 76 32 44 0.58 intronic rs2283612 CYP4F3 AU NM_001199208 exon6 c.7866+122C>T 0.158946 0.2073 Uncertain 19_15760577_C->T 19 15760577 15760577 C T snp 52.74 1/1 6 2 0 2 1.0 intronic rs10401516 CYP4F3 AU NM_001199208 exon7 c.8497-145C>T 0.527356 0.6935 Uncertain 19_15760881_C->A 19 15760881 15760881 C A snp 1777.77 0/1 99 166 89 77 0.46 exonic rs1805040 CYP4F3 AU nonsynonymous SNV NM_001199209 exon7 c.C806A p.A269D 0.128395 0.2063 0.129248 0.1341 0.1732 0.24 T 0.0 P -1.109 T 0.001 T 0.033 T Pathogenic 19_15763721_G->A 19 15763721 15763721 G A snp 822.77 0/1 99 70 35 35 0.5 exonic rs1805042 CYP4F3 AU synonymous SNV NM_001199209 exon9 c.G1074A p.V358V 0.515176 0.6577 0.436106 0.4250 0.6456 Uncertain 19_15769253_C->A 19 15769253 15769253 C A snp 2725.77 0/1 99 250 130 120 0.48 intronic rs4646513 CYP4F3 AU NM_001199208 exon10 c.16982+46C>A 0.51877 0.6627 0.437567 0.4279 0.6540 Uncertain 19_15769270_A->C 19 15769270 15769270 A C snp 2933.77 0/1 99 250 125 125 0.5 intronic rs4646514 CYP4F3 AU NM_001199208 exon11 c.17075-30A>C 0.522564 0.6617 0.440489 0.4304 0.6542 Uncertain 19_15769379_G->C 19 15769379 15769379 G C snp 1811.77 0/1 99 132 58 74 0.56 intronic rs4646515 CYP4F3 AU NM_001199208 exon11 c.17140+14G>C 0.528954 0.6627 0.444556 0.4322 0.6521 Uncertain 19_15769449_A->G 19 15769449 15769449 A G snp 619.77 0/1 99 45 20 25 0.56 intronic rs4646516 CYP4F3 AU NM_001199208 exon11 c.17140+84A>G 0.528754 0.6627 Uncertain 19_15769478_C->T 19 15769478 15769478 C T snp 591.77 0/1 99 34 15 19 0.56 intronic rs4646517 CYP4F3 AU NM_001199208 exon12 c.17311-58C>T 0.336661 0.4772 0.233027 Uncertain 19_15769529_G->T 19 15769529 15769529 G T snp 607.77 0/1 99 29 8 21 0.72 intronic rs4646518 CYP4F3 AU NM_001199208 exon12 c.17311-7G>T 0.526957 0.6627 0.434415 0.4311 0.6525 Uncertain 19_15769530_C->T 19 15769530 15769530 C T snp 651.77 0/1 99 29 8 21 0.72 intronic rs4646519 CYP4F3 AU NM_001199208 exon12 c.17311-6C>T 0.524161 0.6607 0.434030 0.4310 0.6523 Uncertain 19_15769625_A->G 19 15769625 15769625 A G snp 951.77 0/1 99 57 21 36 0.63 splicing rs1915390 CYP4F3 AU NM_001199208 exon12 c.17394+6A>G 0.721446 0.8204 0.659772 0.6474 0.8230 Pathogenic 19_15769775_A->G 19 15769775 15769775 A G snp 310.77 0/1 82 18 6 12 0.67 intronic rs4646520 CYP4F3 AU NM_001199208 exon12 c.17394+156A>G 0.526358 0.6627 Uncertain 19_15769805_A->T 19 15769805 15769805 A T snp 162.78 0/1 27 9 3 6 0.67 intronic rs10404163 CYP4F3 AU NM_001199208 exon12 c.17394+186A>T 0.526358 0.6627 Uncertain 19_15769992_A->T 19 15769992 15769992 A T snp 218.84 1/1 18 10 0 10 1.0 intronic rs2460817 CYP4F3 AU NM_001199208 exon13 c.17804-37A>T 0.986821 1 0.960509 0.9445 0.9994 Uncertain 19_15770018_T->C 19 15770018 15770018 T C snp 275.77 0/1 48 13 4 9 0.69 intronic rs2460818 CYP4F3 AU NM_001199208 exon13 c.17804-11T>C 0.40615 0.3274 0.130002 0.6540 0.6482 Uncertain 19_15770020_C->T 19 15770020 15770020 C T snp 240.77 0/1 55 14 5 9 0.64 intronic rs2460819 CYP4F3 AU NM_001199208 exon13 c.17804-9C>T 0.405152 0.3274 0.127883 0.6523 0.6438 Uncertain 19_15770027_A->T 19 15770027 15770027 A T snp 97.77 0/1 99 19 12 7 0.37 splicing rs10404649 CYP4F3 AU NM_001199208 exon13 c.17804-2A>T 0.614018 0.7034 0.4383 0.5926 Pathogenic 19_15784061_C->A 19 15784061 15784061 C A snp 2885.77 1/1 99 108 1 107 0.99 intronic rs7254013 CYP4F12 AU 0.919529 1 0.9265 1 0 D 0.000 P -1.031 T Uncertain 19_15784116_G->A 19 15784116 15784116 G A snp 2761.77 1/1 99 103 0 103 1.0 intronic rs7253210 CYP4F12 AU 0.929513 1 0.9258 1 Uncertain 19_15784152_T->C 19 15784152 15784152 T C snp 980.77 0/1 99 88 43 45 0.51 intronic rs17641206 CYP4F12 AU 0.387181 0.7341 Uncertain 19_15784167_A->G 19 15784167 15784167 A G snp 2034.77 1/1 99 76 0 76 1.0 intronic rs7254627 CYP4F12 AU Uncertain 19_15784195_G->C 19 15784195 15784195 G C snp 1608.77 1/1 99 49 0 49 1.0 intronic rs10414690 CYP4F12 AU Uncertain 19_15784200_C->T 19 15784200 15784200 C T snp 1554.77 1/1 99 47 0 47 1.0 intronic rs55794585 CYP4F12 AU 0.88778 1 Uncertain 19_15784214_C->T 19 15784214 15784214 C T snp 1286.77 1/1 96 37 0 37 1.0 intronic rs56398124 CYP4F12 AU 0.88099 1 Uncertain 19_15784285_C->T 19 15784285 15784285 C T snp 1073.77 1/1 81 28 0 28 1.0 intronic rs56205003 CYP4F12 AU 0.842851 0.998 Uncertain 19_15784319_G->T 19 15784319 15784319 G T snp 1717.77 1/1 99 45 1 44 0.98 intronic rs56124328 CYP4F12 AU 0.848243 0.999 0.901542 0.9312 1 Uncertain 19_15784386_C->T 19 15784386 15784386 C T snp 4934.77 1/1 99 168 0 168 1.0 exonic rs16995378 CYP4F12 AU nonsynonymous SNV NM_023944 exon2 c.C47T p.T16M 0.869808 0.998 0.912910 0.9341 1 0.08 T 0.0 P -0.835 T 0.941 T 0.34 D Pathogenic 19_15784617_A->G 19 15784617 15784617 A G snp 3204.83 1/1 99 97 0 97 1.0 intronic rs61666630 CYP4F12 AU NM_023944 exon2 c.198+80A>G 0.91274 1 Uncertain 19_15784660_A->G 19 15784660 15784660 A G snp 1404.77 1/1 99 40 0 40 1.0 intronic rs62104452 CYP4F12 AU NM_023944 exon2 c.198+123A>G 0.930312 1 Uncertain 19_15784686_A->C 19 15784686 15784686 A C snp 576.77 1/1 45 15 0 15 1.0 intronic rs73522622 CYP4F12 AU NM_023944 exon2 c.198+149A>C Uncertain 19_15784701_C->G 19 15784701 15784701 C G snp 93.28 1/1 9 3 0 3 1.0 intronic rs78182533 CYP4F12 AU NM_023944 exon2 c.198+164C>G Uncertain 19_15784703_A->G 19 15784703 15784703 A G snp 56.74 1/1 6 2 0 2 1.0 intronic rs79099651 CYP4F12 AU NM_023944 exon2 c.198+166A>G Uncertain 19_15784705_C->T 19 15784705 15784705 C T snp 54.74 1/1 6 2 0 2 1.0 intronic rs78556748 CYP4F12 AU NM_023944 exon2 c.198+168C>T Uncertain 19_15788996_G->A 19 15788996 15788996 G A snp 1440.77 0/1 99 103 48 55 0.53 intronic rs28523893 CYP4F12 AU NM_023944 exon3 c.4731-74G>A Uncertain 19_15789034_C->A 19 15789034 15789034 C A snp 3820.77 1/1 99 145 1 144 0.99 intronic rs28416595 CYP4F12 AU NM_023944 exon3 c.4731-36C>A 0.82488 0.998 0.897347 0.9292 1 Uncertain 19_15789098_A->G 19 15789098 15789098 A G snp 4504.77 1/1 99 166 0 166 1.0 exonic rs609636 CYP4F12 AU nonsynonymous SNV NM_023944 exon3 c.A226G p.N76D 0.819888 0.9692 0.923077 0.9360 1 0.22 T 0.0 P -1.013 T 0.0 T 0.004 T Pathogenic 19_15789140_A->G 19 15789140 15789140 A G snp 4201.77 1/1 99 142 0 142 1.0 exonic rs609290 CYP4F12 AU nonsynonymous SNV NM_023944 exon3 c.A268G p.I90V 0.81869 0.9712 0.920971 0.9360 1 0.7 T 0.0 P -0.980 T 0.002 T 0.006 T ID=CM043943;DIS=Altered substrate specificity;TAG=FP;PUB=15548388 FP Pathogenic 19_15789250_A->G 19 15789250 15789250 A G snp 982.77 1/1 75 25 0 25 1.0 intronic rs35491114 CYP4F12 AU NM_023944 exon3 c.4876+35A>G 0.818091 0.997 0.893594 0.9289 1 Uncertain 19_15789257_T->C 19 15789257 15789257 T C snp 241.77 0/1 99 18 9 9 0.5 intronic rs34521056 CYP4F12 AU NM_023944 exon3 c.4876+42T>C 0.538900 0.5596 0.7183 Uncertain 19_15791180_C->T 19 15791180 15791180 C T snp 6864.77 1/1 99 229 0 229 1.0 intronic rs8100667 CYP4F12 AU NM_023944 exon5 c.6862-21C>T 0.914736 0.999 0.894802 0.9290 0.9999 Uncertain 19_15793062_G->A 19 15793062 15793062 G A snp 300.77 0/1 99 18 7 11 0.61 intronic rs7253816 CYP4F12 AU NM_023944 exon6 c.8859-136G>A 0.35024 0.255 Uncertain 19_15793068_C->T 19 15793068 15793068 C T snp 708.77 1/1 54 20 0 20 1.0 intronic rs7254785 CYP4F12 AU NM_023944 exon6 c.8859-130C>T 0.736621 0.9861 Uncertain 19_15793235_T->C 19 15793235 15793235 T C snp 2100.77 0/1 99 189 99 90 0.48 exonic rs2285888 CYP4F12 AU nonsynonymous SNV NM_023944 exon6 c.T562C p.C188R 0.620008 0.745 0.556589 0.5907 0.7201 1 T 0.0 P -0.958 T 0.0 T 0.0 T ID=CM043944;DIS=Altered substrate specificity;TAG=FP;PUB=15548388 FP Pathogenic 19_15793370_A->T 19 15793370 15793370 A T snp 212.77 0/1 99 12 5 7 0.58 intronic rs28419129 CYP4F12 AU NM_023944 exon6 c.8981+50A>T 0.214856 0.6081 0.1326 0.5681 Uncertain 19_15795567_TGTGTGTGTG->- 19 15795567 15795576 TGTGTGTGTG - indel 677.73 0/1 99 10 3 7 0.7 intronic CYP4F12 AU NM_023944 exon8 c.11286-58_11286-49delTGTGTGTGTG Uncertain 19_15795842_C->T 19 15795842 15795842 C T snp 1248.77 1/1 93 39 0 39 1.0 intronic rs2018030 CYP4F12 AU NM_023944 exon9 c.11538-35C>T 0.946885 1 0.936779 0.9394 1 Uncertain 19_15807884_A->G 19 15807884 15807884 A G snp 2565.77 0/1 99 223 108 115 0.52 exonic rs593818 CYP4F12 AU nonsynonymous SNV NM_023944 exon13 c.A1564G p.S522G 0.614217 0.7421 0.554242 0.5823 0.7194 1 T 0.0 P -0.961 T 0.0 T 0.0 T Pathogenic 19_15808025_A->G 19 15808025 15808025 A G snp 184.77 0/1 99 26 19 7 0.27 downstream rs11669240 CYP4F12 AU 0.368011 0.7282 Uncertain 19_15838690_C->T 19 15838690 15838690 C T snp 82.28 1/1 9 3 0 3 1.0 upstream rs4433928 OR10H2 AU 0.556909 0.9296 Uncertain 19_15838746_A->G 19 15838746 15838746 A G snp 1758.77 1/1 99 50 0 50 1.0 upstream rs11672695 OR10H2 AU 0.557708 0.9296 Uncertain 19_15838754_G->- 19 15838754 15838754 G - indel 2578.73 1/1 99 62 0 62 1.0 upstream rs34728106 OR10H2 AU 0.560903 0.9296 Uncertain 19_15838967_G->A 19 15838967 15838967 G A snp 2771.77 0/1 99 220 103 117 0.53 exonic rs2285955 OR10H2 AU synonymous SNV NM_013939 exon1 c.G114A p.T38T 0.350439 0.3135 0.389940 0.4047 0.3262 Uncertain 19_15839174_C->T 19 15839174 15839174 C T snp 1873.77 0/1 99 163 91 72 0.44 exonic rs2285956 OR10H2 AU synonymous SNV NM_013939 exon1 c.C321T p.F107F 0.3598 0.2979 Uncertain 19_15839365_C->T 19 15839365 15839365 C T snp 2294.77 0/1 99 187 90 97 0.52 exonic rs1806931 OR10H2 AU nonsynonymous SNV NM_013939 exon1 c.C512T p.S171F 0.20028 0.6081 0.047440 0.1266 0.5643 0.11 T 0.0 P -0.928 T 0.728 T 0.595 P Pathogenic 19_15852223_A->C 19 15852223 15852223 A C snp 1716.77 0/1 99 104 40 64 0.62 exonic rs1966357 OR10H3 AU nonsynonymous SNV NM_013938 exon1 c.A21C p.R7S 0.65595 0.3323 0.758342 0.7020 0.3516 0.39 T 0.0 P -1.057 T 0.0 T 0.0 T Pathogenic 19_15852242_C->A 19 15852242 15852242 C A snp 1472.77 0/1 99 141 87 54 0.38 exonic rs2240227 OR10H3 AU nonsynonymous SNV NM_013938 exon1 c.C40A p.L14I 0.195687 0.6111 0.042903 0.1254 0.5654 0.09 T 0.0 P -1.100 T 0.987 D 0.844 D Pathogenic 19_15852872_G->A 19 15852872 15852872 G A snp 2045.77 0/1 99 160 78 82 0.51 exonic rs2240228 OR10H3 AU nonsynonymous SNV NM_013938 exon1 c.G670A p.V224M 0.199281 0.1984 0.206520 0.2314 0.1953 0.05 T 0.030 P -1.097 T 0.581 P 0.384 P Pathogenic 19_15881751_A->C 19 15881751 15881751 A C snp 3166.77 0/1 99 240 111 129 0.54 ncRNA_intronic rs8112713 CYP4F24P AU 0.657149 0.3313 0.7007 0.3538 Uncertain 19_15881953_A->G 19 15881953 15881953 A G snp 2919.77 0/1 99 250 136 114 0.46 ncRNA_exonic rs4807986 CYP4F24P AU 0.651757 0.3313 0.7003 0.3524 1 T -0.955 T 0.0 T 0.002 T Uncertain 19_15882763_T->G 19 15882763 15882763 T G snp 418.77 1/1 33 11 0 11 1.0 ncRNA_intronic rs3752147 CYP4F24P AU Uncertain 19_15882777_A->C 19 15882777 15882777 A C snp 677.77 1/1 51 18 0 18 1.0 ncRNA_intronic rs3752146 CYP4F24P AU 0.852835 0.9425 Uncertain 19_15882788_C->T 19 15882788 15882788 C T snp 406.77 0/1 99 24 10 14 0.58 ncRNA_intronic rs3752145 CYP4F24P AU 0.455072 0.2093 Uncertain 19_15882796_T->A 19 15882796 15882796 T A snp 1162.77 1/1 87 33 0 33 1.0 ncRNA_intronic rs2285889 CYP4F24P AU 0.859425 0.9425 0.8264 0.9163 Uncertain 19_15884810_A->T 19 15884810 15884810 A T snp 1510.77 0/1 99 128 65 63 0.49 ncRNA_intronic rs10421246 CYP4F24P AU 0.445288 0.2103 Uncertain 19_15890388_A->G 19 15890388 15890388 A G snp 343.78 1/1 27 10 0 10 1.0 ncRNA_intronic rs7259595 CYP4F24P AU 0.932907 1 Uncertain 19_15890517_A->C 19 15890517 15890517 A C snp 1206.77 0/1 99 132 77 55 0.42 ncRNA_splicing rs11669449 CYP4F24P AU 0.444888 0.2103 Uncertain 19_15890625_C->G 19 15890625 15890625 C G snp 1426.77 0/1 99 144 82 62 0.43 ncRNA_exonic rs11673423 CYP4F24P AU 0.542732 0.2679 Uncertain 19_15890771_T->G 19 15890771 15890771 T G snp 234.77 0/1 88 10 3 7 0.7 ncRNA_exonic rs56317414 CYP4F24P AU 0.465455 0.2133 Uncertain 19_15890777_G->T 19 15890777 15890777 G T snp 201.8 0/1 21 8 2 6 0.75 ncRNA_exonic rs55926517 CYP4F24P AU 0.465455 0.2133 Uncertain 19_15890800_A->G 19 15890800 15890800 A G snp 123.78 0/1 27 5 1 4 0.8 upstream rs56180406 CYP4F24P AU 0.46885 0.2133 Uncertain 19_15905002_T->C 19 15905002 15905002 T C snp 2353.77 0/1 99 190 93 97 0.51 exonic rs4808379 OR10H5 AU synonymous SNV NM_001004466 exon1 c.T144C p.T48T 0.485423 0.7907 0.371136 0.4087 0.7835 Uncertain 19_15905431_T->C 19 15905431 15905431 T C snp 1769.77 0/1 99 175 97 78 0.45 exonic rs4808381 OR10H5 AU synonymous SNV NM_001004466 exon1 c.T573C p.D191D 0.45607 0.7897 0.333000 0.3999 0.7816 Uncertain 19_15905529_C->A 19 15905529 15905529 C A snp 1658.77 0/1 99 174 103 71 0.41 exonic rs62621417 OR10H5 AU nonsynonymous SNV NM_001004466 exon1 c.C671A p.A224D 0.271166 0.6687 0.2105 0.6427 0.03 T 0.0 P -0.917 T 0.963 D 0.864 D Pathogenic 19_15905941_T->C 19 15905941 15905941 T C snp 180.9 1/1 15 5 0 5 1.0 downstream rs56117700 OR10H5 AU 0.713259 0.998 Uncertain 19_15918177_G->T 19 15918177 15918177 G T snp 120.77 0/1 99 216 180 36 0.17 exonic rs62619246 OR10H1 AU nonsynonymous SNV NM_013940 exon1 c.C671A p.A224D 0.0202 0.0817 0.02 T 1 N -1.095 T 0.963 D 0.905 D ID=COSM328549;OCCURENCE=3(kidney) Pathogenic 19_15918455_G->A 19 15918455 15918455 G A snp 1630.77 0/1 99 151 82 69 0.46 exonic rs61739573 OR10H1 AU synonymous SNV NM_013940 exon1 c.C393T p.R131R 0.192492 0.1905 0.216592 0.2495 0.1943 Uncertain 19_15932941_A->G 19 15932941 15932941 A G snp 2377.77 1/1 99 79 0 79 1.0 intergenic rs3761012 OR10H1 AU 0.815096 0.9365 Uncertain 19_15933059_A->G 19 15933059 15933059 A G snp 320.77 0/1 99 41 26 15 0.37 intergenic rs3761013 OR10H1 AU 0.427516 0.6181 Uncertain 19_15934599_C->G 19 15934599 15934599 C G snp 1445.77 0/1 99 136 67 69 0.51 intergenic rs2285881 OR10H1 AU 0.425519 0.6181 Uncertain 19_15934656_A->G 19 15934656 15934656 A G snp 3828.77 1/1 99 146 0 146 1.0 intergenic rs10411865 OR10H1 AU 0.910543 1 Uncertain 19_15989405_C->T 19 15989405 15989405 C T snp 39.77 0/1 68 12 7 5 0.42 UTR3 rs1126433 CYP4F2 AU 0.429912 0.7817 Uncertain 19_15989696_G->C 19 15989696 15989696 G C snp 124.77 0/1 99 81 67 14 0.17 exonic rs3952537 CYP4F2 AU nonsynonymous SNV NM_001082 exon13 c.C1448G p.A483G 0.0951 0.1413 0.06 T 1 D -0.714 T 0.182 T 0.122 T Pathogenic 19_15989730_T->C 19 15989730 15989730 T C snp 292.77 0/1 99 53 33 20 0.38 exonic rs4020346 CYP4F2 AU nonsynonymous SNV NM_001082 exon13 c.A1414G p.T472A 0.3693 0.4321 0.47 T 1 D -1.066 T 0.0 T 0.007 T Pathogenic 19_15989857_T->C 19 15989857 15989857 T C snp 151.77 0/1 99 14 6 8 0.57 intronic rs376410257 CYP4F2 AU NM_001082 exon1 c.166+111T>C Uncertain 19_15989871_T->A 19 15989871 15989871 T A snp 37.77 0/1 66 8 6 2 0.25 intronic rs3093199 CYP4F2 AU NM_001082 exon1 c.166+125T>A 0.279752 0.2143 Uncertain 19_15990048_A->G 19 15990048 15990048 A G snp 943.77 1/1 69 33 0 33 1.0 intronic rs3093198 CYP4F2 AU NM_001082 exon2 c.575-107A>G 0.709665 0.9931 Uncertain 19_15990431_C->T 19 15990431 15990431 C T snp 1914.77 0/1 99 138 67 71 0.51 exonic rs2108622 CYP4F2 AU nonsynonymous SNV NM_001082 exon11 c.G1297A p.V433M 0.236821 0.2143 0.225434 0.2726 0.2537 0.01 T 1.0 P -1.120 T 1.0 D 0.98 D ID=CM074767;DIS=Decreased 20-HETE production, association with;TAG=DFP;PUB=17341693 DFP Pathogenic 19_15997136_-->C 19 15997136 15997136 - C indel 787.73 0/1 99 119 65 54 0.45 intronic rs3093159 CYP4F2 AU NM_001082 exon6 c.7538+18insC 0.423323 0.3621 0.4646 0.3823 Uncertain 19_16000609_T->A 19 16000609 16000609 T A snp 178.77 0/1 99 14 7 7 0.5 intronic rs3093156 CYP4F2 AU NM_001082 exon7 c.10923+106T>A 0.4377 0.378 Uncertain 19_16024662_G->C 19 16024662 16024662 G C snp 1128.77 0/1 99 94 52 42 0.45 exonic rs1064796 CYP4F11 AU synonymous SNV NM_021187 exon12 c.C1455G p.T485T 0.664137 0.4276 0.755728 0.7271 0.5057 Uncertain 19_16025176_C->T 19 16025176 16025176 C T snp 807.77 0/1 99 64 29 35 0.55 exonic rs1060463 CYP4F11 AU nonsynonymous SNV NM_021187 exon11 c.G1336A p.D446N 0.5 0.381 0.552284 0.5672 0.4147 0.07 T 0.912 P -0.917 T 0.265 T 0.172 T Pathogenic 19_16034519_T->A 19 16034519 16034519 T A snp 1157.77 0/1 99 78 41 37 0.47 intronic rs3746152 CYP4F11 AU NM_021187 exon7 c.10080-102T>A 0.180711 0.5575 Uncertain 19_16034714_A->G 19 16034714 16034714 A G snp 7478.77 1/1 99 249 0 249 1.0 exonic rs8104361 CYP4F11 AU nonsynonymous SNV NM_021187 exon6 c.T826C p.C276R 0.843251 0.9921 0.787329 0.8323 0.9920 1 T 0.0 P -0.970 T 0.0 T 0.0 T Pathogenic 19_16035494_C->T 19 16035494 16035494 C T snp 221.77 0/1 99 11 4 7 0.64 intronic rs3746154 CYP4F11 AU NM_021187 exon8 c.11029-76C>T 0.491613 0.377 Uncertain 19_16035517_G->A 19 16035517 16035517 G A snp 432.77 0/1 99 28 13 15 0.54 intronic rs3746156 CYP4F11 AU NM_021187 exon8 c.11029-53G>A 0.528554 0.38 Uncertain 19_16038334_G->A 19 16038334 16038334 G A snp 1510.77 0/1 99 108 48 60 0.56 intronic rs2219358 CYP4F11 AU NM_021187 exon10 c.13752+41G>A 0.492612 0.38 0.545979 0.5645 0.4145 Uncertain 19_16038365_C->G 19 16038365 16038365 C G snp 787.77 0/1 99 54 26 28 0.52 intronic rs2305804 CYP4F11 AU NM_021187 exon10 c.13752+72C>G 0.185703 0.1558 0.129873 Uncertain 19_16038390_G->T 19 16038390 16038390 G T snp 568.77 0/1 99 31 11 20 0.65 intronic rs2305803 CYP4F11 AU NM_021187 exon10 c.13752+97G>T 0.492412 0.38 Uncertain 19_16040292_A->G 19 16040292 16040292 A G snp 862.77 0/1 99 59 22 37 0.63 exonic rs3765070 CYP4F11 AU synonymous SNV NM_021187 exon2 c.T318C p.I106I 0.492212 0.379 0.546209 0.5642 0.4156 Uncertain 19_16040473_T->C 19 16040473 16040473 T C snp 247.77 0/1 99 39 26 13 0.33 intronic rs4808414 CYP4F11 AU NM_021187 exon11 c.15870+62T>C 0.498203 0.379 Uncertain 19_16045141_T->C 19 16045141 16045141 T C snp 5408.77 1/1 99 205 0 205 1.0 exonic rs2305801 CYP4F11 AU synonymous SNV NM_021187 exon1 c.A78G p.G26G 0.789736 0.9921 0.727433 0.8140 0.9920 Uncertain 19_16060827_T->G 19 16060827 16060827 T G snp 1752.77 1/1 99 62 0 62 1.0 downstream rs1594685 OR10H4 AU 1 1 Uncertain 19_16130604_T->C 19 16130604 16130604 T C snp 2259.77 1/1 99 80 0 80 1.0 ncRNA_intronic rs7250074 LINC00661 AU 0.774361 0.8542 Uncertain 19_16131679_T->C 19 16131679 16131679 T C snp 6490.77 1/1 99 233 0 233 1.0 ncRNA_intronic rs757545 LINC00661 AU 0.767772 0.8532 Uncertain 19_16136405_C->T 19 16136405 16136405 C T snp 2646.77 1/1 99 100 0 100 1.0 ncRNA_exonic rs4808423 LINC00661 AU 0.724042 0.8562 Uncertain 19_16136923_T->C 19 16136923 16136923 T C snp 5280.77 1/1 99 184 0 184 1.0 ncRNA_exonic rs757546 LINC00661 AU 0.723642 0.8562 Uncertain 19_16137025_C->A 19 16137025 16137025 C A snp 1182.77 1/1 87 37 0 37 1.0 ncRNA_exonic rs757547 LINC00661 AU 0.730631 0.8581 Uncertain 19_16137052_A->C 19 16137052 16137052 A C snp 522.77 1/1 39 17 0 17 1.0 ncRNA_exonic rs757548 LINC00661 AU 0.730831 0.8581 Uncertain 19_16137086_C->T 19 16137086 16137086 C T snp 208.84 1/1 18 6 0 6 1.0 ncRNA_exonic rs2365157 LINC00661 AU 0.720647 0.8562 Uncertain 19_16145423_A->G 19 16145423 16145423 A G snp 3503.77 1/1 99 123 0 123 1.0 ncRNA_exonic rs58028036 LINC00905 AU 0.158946 0.4306 Uncertain 19_16145533_A->G 19 16145533 16145533 A G snp 6304.77 1/1 99 227 0 227 1.0 ncRNA_exonic rs61676158 LINC00905 AU 0.158946 0.4306 0.0666 0.4583 0 D -0.931 T Uncertain 19_16145539_G->A 19 16145539 16145539 G A snp 6328.77 1/1 99 229 0 229 1.0 ncRNA_exonic rs57540331 LINC00905 AU 0.158946 0.4306 0.0656 0.4490 0 D -0.943 T Uncertain 19_16145653_G->A 19 16145653 16145653 G A snp 6668.77 1/1 99 238 2 236 0.99 ncRNA_exonic rs73513754 LINC00905 AU 0.158946 0.4306 0.0640 0.4592 0 D -0.938 T Uncertain 19_16145731_C->A 19 16145731 16145731 C A snp 5593.77 1/1 99 198 0 198 1.0 ncRNA_exonic rs73513755 LINC00905 AU 0.158946 0.4306 0.0645 0.465 0 D -0.943 T Uncertain 19_16146400_A->G 19 16146400 16146400 A G snp 7142.77 1/1 99 249 0 249 1.0 ncRNA_exonic rs17683335 LINC00905 AU 0.630791 0.8383 0.5976 0.7696 Uncertain 19_16178587_A->C 19 16178587 16178587 A C snp 3439.77 1/1 99 135 0 135 1.0 intronic rs4808031 TPM4 AU NM_001145160 exon1 c.114+39A>C 0.544529 0.5556 0.536061 0.4760 0.5929 Uncertain 19_16186772_G->A 19 16186772 16186772 G A snp 210.77 0/1 99 23 15 8 0.35 intronic rs7260235 TPM4 AU NM_001145160 exon2 c.8422-84G>A 0.165735 0.1012 Uncertain 19_16186815_-->CA 19 16186815 16186815 - CA indel 1398.73 0/1 99 52 20 32 0.62 intronic rs10633690 TPM4 AU NM_001145160 exon2 c.8422-41insCA 0.315495 0.495 0.331242 0.5060 0.6136 Uncertain 19_16192898_A->G 19 16192898 16192898 A G snp 1058.77 0/1 99 94 50 44 0.47 intronic rs3826722 TPM4 AU NM_001145160 exon3 c.14422+42A>G 0.505192 0.7192 0.420705 0.4429 0.7311 Uncertain 19_16192958_A->G 19 16192958 16192958 A G snp 689.77 0/1 99 64 33 31 0.48 intronic rs3786577 TPM4 AU NM_001145160 exon3 c.14422+102A>G 0.505391 0.7192 Uncertain 19_16197421_A->G 19 16197421 16197421 A G snp 1111.77 0/1 99 69 25 44 0.64 intronic rs2303149 TPM4 AU NM_001145160 exon4 c.18916+71A>G 0.584065 0.7242 Uncertain 19_16229236_A->G 19 16229236 16229236 A G snp 1130.77 1/1 84 31 0 31 1.0 intronic rs1862603 RAB8A AU NM_005370 exon2 c.6385+140A>G 0.165935 0.2738 Uncertain 19_16236557_G->A 19 16236557 16236557 G A snp 1497.77 1/1 99 48 0 48 1.0 intronic rs10416989 RAB8A AU NM_005370 exon4 c.13646+200G>A 0.468051 0.4782 0.4301 0.5032 Uncertain 19_16238279_C->T 19 16238279 16238279 C T snp 2883.77 1/1 99 112 2 110 0.98 exonic rs1043308 RAB8A AU synonymous SNV NM_005370 exon5 c.C357T p.L119L 0.300519 0.2976 0.288405 0.3402 0.3198 Uncertain 19_16254422_T->C 19 16254422 16254422 T C snp 1295.77 1/1 93 42 0 42 1.0 intronic rs4321304 HSH2D AU 0.298323 0.3234 Uncertain 19_16254694_A->G 19 16254694 16254694 A G snp 1242.77 1/1 90 42 0 42 1.0 intronic rs2446366 HSH2D AU 0.926118 0.7986 Uncertain 19_16259460_C->T 19 16259460 16259460 C T snp 309.77 0/1 99 30 15 15 0.5 intronic rs285290 HSH2D AU 0.389976 0.2877 Uncertain 19_16265494_G->A 19 16265494 16265494 G A snp 185.9 1/1 15 6 0 6 1.0 intronic rs111524 HSH2D AU NM_032855 exon7 c.5741+193G>A 0.882987 0.9673 Uncertain 19_16268208_A->- 19 16268208 16268208 A - indel 9123.73 1/1 99 250 0 250 1.0 splicing rs398034064 HSH2D AU NM_032855 exon9 c.8648delA 1 1 0.9999 0.9986 Pathogenic 19_16272367_C->A 19 16272367 16272367 C A snp 1019.77 0/1 99 97 45 52 0.54 intronic rs77495785 CIB3 AU NM_054113 exon1 c.22+70C>A 0.117812 0.25 0.030004 Uncertain 19_16275515_A->G 19 16275515 16275515 A G snp 4011.77 1/1 99 140 0 140 1.0 intronic rs6512086 CIB3 AU NM_054113 exon2 c.3253-13A>G 0.885982 0.9663 0.856605 0.8483 0.9607 Uncertain 19_16275655_C->T 19 16275655 16275655 C T snp 6783.77 1/1 99 248 0 248 1.0 exonic rs6512087 CIB3 AU nonsynonymous SNV NM_001300922 exon3 c.G269A p.G90E 0.770966 0.9593 0.760572 0.7919 0.9582 0.75 T 1.0 P -0.966 T 0.0 T 0.001 T Pathogenic 19_16275772_A->G 19 16275772 16275772 A G snp 3188.81 1/1 99 109 0 109 1.0 intronic rs4808461 CIB3 AU NM_054113 exon2 c.3449+48A>G 0.786142 0.9593 0.748501 0.7961 0.9582 Uncertain 19_16279253_T->C 19 16279253 16279253 T C snp 50.74 1/1 6 2 0 2 1.0 intronic rs10405356 CIB3 AU NM_054113 exon3 c.6820+158T>C 0.651957 0.9563 Uncertain 19_16280634_A->G 19 16280634 16280634 A G snp 343.78 1/1 27 12 0 12 1.0 intronic rs2003419 CIB3 AU NM_054113 exon4 c.8277+82A>G 0.71845 0.9583 Uncertain 19_16283801_G->A 19 16283801 16283801 G A snp 54.74 1/1 6 2 0 2 1.0 intronic rs897777 CIB3 AU NM_054113 exon5 c.11697-171G>A 0.70627 0.9583 Uncertain 19_16283852_-->ACAC 19 16283852 16283852 - ACAC indel 211.73 0/1 99 15 10 5 0.33 intronic rs55778575 CIB3 AU NM_054113 exon5 c.11697-120insACAC Uncertain 19_16284288_G->T 19 16284288 16284288 G T snp 2998.77 0/1 99 239 125 114 0.48 UTR5 rs78608985 CIB3 AU 0.0561102 0.1627 0.003460 0.0375 0.1779 Uncertain 19_16301312_A->G 19 16301312 16301312 A G snp 886.77 0/1 99 68 30 38 0.56 intronic rs206231 FAM32A AU NM_014077 exon3 c.5077-18A>G 0.691494 0.6548 0.710595 0.7559 0.6906 Uncertain 19_16308786_-->CGCTGCCGCCGCCACCGCCCTCGGC 19 16308786 16308786 - CGCTGCCGCCGCCACCGCCCTCGGC indel 1543.8 1/1 18 16 0 16 1.0 UTR5 rs145442379 AP1M1 AU 0.353235 0.499 0.143813 Uncertain 19_16318781_C->T 19 16318781 16318781 C T snp 74.77 0/1 99 9 6 3 0.33 intronic rs2290657 AP1M1 AU NM_001130524 exon4 c.9992-48C>T 0.152556 0.3234 0.108412 0.1051 0.3151 Uncertain 19_16321073_A->G 19 16321073 16321073 A G snp 224.77 0/1 99 15 8 7 0.47 intronic rs68150030 AP1M1 AU NM_001130524 exon6 c.12333-97A>G 0.152756 0.3304 Uncertain 19_16337423_T->C 19 16337423 16337423 T C snp 2135.77 0/1 99 169 79 90 0.53 intronic rs2305939 AP1M1 AU NM_001130524 exon7 c.28521+65T>C 0.629193 0.7153 Uncertain 19_16338274_C->T 19 16338274 16338274 C T snp 1140.77 0/1 99 100 58 42 0.42 intronic rs2305938 AP1M1 AU NM_001130524 exon8 c.29521-84C>T 0.153155 0.3333 Uncertain 19_16338532_G->A 19 16338532 16338532 G A snp 1808.77 0/1 99 123 51 72 0.59 intronic rs2124904 AP1M1 AU NM_001130524 exon8 c.29664+31G>A 0.608626 0.7133 0.665001 0.7115 0.6868 Uncertain 19_16339874_A->G 19 16339874 16339874 A G snp 310.77 0/1 99 21 9 12 0.57 intronic rs3752796 AP1M1 AU NM_001130524 exon10 c.30902+135A>G 0.608826 0.7123 Uncertain 19_16339886_G->T 19 16339886 16339886 G T snp 120.78 0/1 25 5 1 4 0.8 intronic rs3752795 AP1M1 AU NM_001130524 exon10 c.30902+147G>T 0.608826 0.7123 Uncertain 19_16339887_A->T 19 16339887 16339887 A T snp 123.78 0/1 25 5 1 4 0.8 intronic rs3752794 AP1M1 AU NM_001130524 exon10 c.30902+148A>T 0.609026 0.7123 Uncertain 19_16344528_C->G 19 16344528 16344528 C G snp 666.77 0/1 99 79 53 26 0.33 intronic rs2279060 AP1M1 AU NM_001130524 exon11 c.35592+99C>G 0.61861 0.7153 Uncertain 19_16344628_C->T 19 16344628 16344628 C T snp 43.77 0/1 66 4 2 2 0.5 intronic rs2279059 AP1M1 AU NM_001130524 exon11 c.35592+199C>T 0.113818 0.248 Uncertain 19_16345099_T->C 19 16345099 16345099 T C snp 1280.77 0/1 99 111 54 57 0.51 intronic rs897774 AP1M1 AU NM_001130524 exon12 c.36248+14T>C 0.623203 0.7153 0.674304 0.7147 0.6866 Uncertain 19_16435717_T->C 19 16435717 16435717 T C snp 2030.77 1/1 99 78 0 78 1.0 UTR5 rs8106384 KLF2 AU 0.997804 0.9901 0.999768 0.9989 0.9858 Uncertain 19_16436262_T->C 19 16436262 16436262 T C snp 1585.77 1/1 99 61 0 61 1.0 exonic rs3745318 KLF2 AU nonsynonymous SNV NM_016270 exon2 c.T311C p.L104P 0.779353 0.4762 0.839660 0.7611 0.5208 0.23 T 0.997 P -1.083 T 0.0 T 0.0 T Pathogenic 19_16466522_G->A 19 16466522 16466522 G A snp 1939.77 0/1 99 202 115 87 0.43 exonic rs527262944 EPS15L1 AU synonymous SNV NM_001258374 exon24 c.C2727T p.A909A 0.00139776 0.0069 0.0002 0.0101 Uncertain 19_16514771_A->G 19 16514771 16514771 A G snp 852.77 0/1 99 68 33 35 0.51 intronic rs873636 EPS15L1 AU NM_001258376 exon2 c.1625+30A>G 0.469848 0.4107 0.430878 0.3802 0.4111 Uncertain 19_16539347_-->AAGA 19 16539347 16539347 - AAGA indel 902.73 1/1 45 15 0 15 1.0 intronic rs535446152 EPS15L1 AU NM_001258376 exon9 c.26396-165insAAGA 0.297923 0.3651 Uncertain 19_16539356_C->A 19 16539356 16539356 C A snp 203.77 0/1 99 18 9 9 0.5 intronic rs4808510 EPS15L1 AU NM_001258376 exon9 c.26396-156C>A 0.399561 0.4256 Uncertain 19_16547738_G->A 19 16547738 16547738 G A snp 498.77 0/1 99 64 41 23 0.36 intronic EPS15L1 AU NM_001258376 exon11 c.34631-9G>A Uncertain 19_16582785_G->T 19 16582785 16582785 G T snp 123.77 0/1 99 15 7 8 0.53 UTR5 rs7252649 EPS15L1 AU 0.604433 0.5962 0.8403 0.5 Uncertain 19_16582937_C->A 19 16582937 16582937 C A snp 46.77 0/1 33 4 1 3 0.75 upstream rs2885706 EPS15L1 AU 0.604233 0.5962 Uncertain 19_16590171_T->G 19 16590171 16590171 T G snp 35.77 0/1 64 6 4 2 0.33 intronic rs12459647 CALR3 AD NM_145046 exon1 c.144+86T>G 0.660144 0.627 Uncertain 19_16591464_G->A 19 16591464 16591464 G A snp 1390.77 0/1 99 145 85 60 0.41 exonic rs9305079 CALR3 AD synonymous SNV NM_145046 exon8 c.C972T p.Y324Y 0.650559 0.628 0.653929 0.6984 0.6365 Uncertain 19_16593190_AACAA->- 19 16593190 16593194 AACAA - indel 554.73 0/1 99 17 8 9 0.53 intronic rs138347151 CALR3 AD NM_145046 exon3 c.3319-70_3319-66delAACAA Uncertain 19_16593203_A->G 19 16593203 16593203 A G snp 277.77 0/1 99 30 16 14 0.47 intronic rs75847259 CALR3 AD NM_145046 exon3 c.3319-57A>G 0.43131 0.4296 Uncertain 19_16593415_G->A 19 16593415 16593415 G A snp 1779.77 0/1 99 133 56 77 0.58 intronic rs8100755 CALR3 AD NM_145046 exon3 c.3451+23G>A 0.660144 0.627 0.668307 0.7023 0.6365 Uncertain 19_16594967_A->G 19 16594967 16594967 A G snp 158.77 0/1 99 21 15 6 0.29 intronic rs10413787 CALR3 AD NM_145046 exon5 c.4985+41A>G 0.659744 0.627 0.666282 0.7025 0.6372 Uncertain 19_16601154_T->C 19 16601154 16601154 T C snp 1458.77 0/1 99 124 63 61 0.49 intronic rs3810196 CALR3 AD NM_145046 exon7 c.11236-23T>C 0.603035 0.5972 0.627864 0.6669 0.6153 Uncertain 19_16601194_C->T 19 16601194 16601194 C T snp 2395.77 0/1 99 206 104 102 0.5 exonic rs3810198 CALR3 AD synonymous SNV NM_145046 exon3 c.G381A p.Q127Q 0.658946 0.627 0.667999 0.7014 0.6366 Uncertain 19_16606742_G->C 19 16606742 16606742 G C snp 922.77 0/1 99 69 32 37 0.54 intronic rs3810199 CALR3 AD NM_145046 exon8 c.16722+79G>C 0.802316 0.6964 Uncertain 19_16606766_G->C 19 16606766 16606766 G C snp 759.77 0/1 99 57 29 28 0.49 intronic rs3810200 CALR3 AD NM_145046 exon9 c.16908-83G>C 0.810104 0.6964 Uncertain 19_16633950_T->C 19 16633950 16633950 T C snp 1350.77 0/1 99 94 31 63 0.67 exonic rs1043481 CHERP AU synonymous SNV NM_006387 exon11 c.A1893G p.P631P 0.893371 0.7212 0.938844 0.8986 0.7297 Uncertain 19_16666101_G->C 19 16666101 16666101 G C snp 1550.77 0/1 99 140 78 62 0.44 exonic rs2287869 SLC35E1 AU synonymous SNV NM_024881 exon5 c.C864G p.P288P 0.402556 0.5149 0.419729 0.5260 0.5288 Uncertain 19_16757708_T->C 19 16757708 16757708 T C snp 44.77 0/1 33 3 1 2 0.67 UTR3 rs10402 SMIM7 AU 0.0986422 0.3056 Uncertain 19_16771006_G->A 19 16771006 16771006 G A snp 1202.77 0/1 99 107 53 54 0.5 upstream rs28364716 SMIM7 AU 0.090655 0.2688 0.036794 Uncertain 19_16790859_C->T 19 16790859 16790859 C T snp 2113.77 0/1 99 183 83 100 0.55 exonic rs730120 TMEM38A AU synonymous SNV NM_024074 exon2 c.C189T p.F63F 0.111022 0.2718 0.063278 0.0813 0.2510 Uncertain 19_16791443_T->C 19 16791443 16791443 T C snp 193.77 0/1 99 18 9 9 0.5 intronic rs901792 TMEM38A AU NM_024074 exon3 c.19364+51T>C 0.456869 0.3492 0.387975 0.2888 0.3537 Uncertain 19_16797240_A->G 19 16797240 16797240 A G snp 2447.77 1/1 99 91 0 91 1.0 intronic rs2249827 TMEM38A AU NM_024074 exon5 c.25188+24A>G 0.661741 0.9087 0.674304 0.7991 0.9073 Uncertain 19_16798927_T->C 19 16798927 16798927 T C snp 5631.77 1/1 99 196 0 196 1.0 intronic rs2547112 TMEM38A AU NM_024074 exon6 c.26926-27T>C 0.677915 0.9087 0.691835 0.7994 0.9067 Uncertain 19_16842052_G->T 19 16842052 16842052 G T snp 1936.77 1/1 99 78 1 77 0.99 exonic rs8107776 NWD1 AU nonsynonymous SNV NM_001007525 exon3 c.G44T p.C15F 0.495208 0.2619 0.5416 0.3182 0.76 T 1.000 P -0.938 T 0.0 T 0.0 T Pathogenic 19_16842251_G->A 19 16842251 16842251 G A snp 94.28 1/1 9 3 0 3 1.0 intronic rs35369808 NWD1 AU NM_001007525 exon3 c.81+162G>A 0.227037 0.2599 Uncertain 19_16855265_A->G 19 16855265 16855265 A G snp 4062.77 1/1 99 146 0 146 1.0 exonic rs812847 NWD1 AU nonsynonymous SNV NM_001007525 exon5 c.A232G p.I78V 0.602236 0.4276 0.5560 0.3990 1 T 0.000 P -0.946 T 0.0 T 0.0 T Pathogenic 19_16855990_A->G 19 16855990 16855990 A G snp 620.77 1/1 45 25 0 25 1.0 intronic rs7247028 NWD1 AU NM_001290355 exon6 c.91+32A>G 0.272764 0.248 0.3961 0.1977 Uncertain 19_16856015_T->C 19 16856015 16856015 T C snp 527.77 1/1 39 20 0 20 1.0 intronic rs3848654 NWD1 AU NM_001290355 exon6 c.91+57T>C 0.409345 0.1677 Uncertain 19_16860105_G->A 19 16860105 16860105 G A snp 7371.77 1/1 99 250 0 250 1.0 exonic rs706764 NWD1 AU nonsynonymous SNV NM_001007525 exon6 c.G652A p.A218T 0.984425 0.9256 0.999462 0.9942 0.9219 1 T 0.0 P -0.983 T 0.0 T 0.0 T Pathogenic 19_16872940_G->A 19 16872940 16872940 G A snp 4740.77 1/1 99 161 0 161 1.0 exonic rs773852 NWD1 AU synonymous SNV NM_001007525 exon8 c.G2124A p.L708L 0.39976 0.1895 0.455943 0.3832 0.1887 Uncertain 19_16876099_T->C 19 16876099 16876099 T C snp 1691.77 1/1 99 65 0 65 1.0 intronic rs4808526 NWD1 AU NM_001007525 exon10 c.33995+96T>C 0.885982 0.7252 Uncertain 19_16899838_A->T 19 16899838 16899838 A T snp 893.77 1/1 69 31 0 31 1.0 exonic rs2608737 NWD1 AU nonsynonymous SNV NM_001007525 exon13 c.A2777T p.N926I 0.998203 0.9911 0.999923 0.9996 0.9954 0.65 T 0.000 P -0.942 T 0.0 T 0.0 T Pathogenic 19_16905455_A->C 19 16905455 16905455 A C snp 210.77 0/1 99 17 10 7 0.41 intronic rs75649430 NWD1 AU NM_001007525 exon15 c.63356+91A>C 0.122804 0.4018 Uncertain 19_16905474_G->T 19 16905474 16905474 G T snp 256.8 1/1 21 7 0 7 1.0 intronic rs2431802 NWD1 AU NM_001007525 exon15 c.63356+110G>T 0.998203 0.9911 Uncertain 19_16923494_C->G 19 16923494 16923494 C G snp 947.77 0/1 99 72 36 36 0.5 intronic rs773894 NWD1 AU NM_001290355 exon20 c.67688-61C>G 0.459864 0.2937 Uncertain 19_16957638_A->C 19 16957638 16957638 A C snp 367.77 0/1 99 21 10 11 0.52 intronic rs2241377 SIN3B AU NM_015260 exon5 c.17549-142A>C 0.488019 0.4524 Uncertain 19_16976286_A->G 19 16976286 16976286 A G snp 2413.77 1/1 99 92 0 92 1.0 exonic rs773911 SIN3B AU synonymous SNV NM_001297597 exon2 c.A219G p.L73L 0.998203 0.9911 0.999923 0.9997 0.9957 Uncertain 19_16976289_T->C 19 16976289 16976289 T C snp 711.77 0/1 99 95 57 38 0.4 exonic rs2303091 SIN3B AU synonymous SNV NM_001297597 exon2 c.T222C p.S74S 0.158147 0.2778 0.118176 0.1625 0.2588 Uncertain 19_16977060_G->C 19 16977060 16977060 G C snp 41.77 0/1 66 4 2 2 0.5 intronic rs2287794 SIN3B AU NM_015260 exon13 c.36952-123G>C 0.463259 0.4524 Uncertain 19_16987262_C->T 19 16987262 16987262 C T snp 2266.77 0/1 99 184 94 90 0.49 intronic rs78256972 SIN3B AU NM_015260 exon17 c.47065-34C>T 0.014377 0.0685 0.000077 0.0055 0.0681 Uncertain 19_16988456_A->G 19 16988456 16988456 A G snp 1136.77 1/1 51 42 1 41 0.98 splicing rs2303090 SIN3B AU NM_015260 exon18 c.48219+6A>G 0.633586 0.7321 0.655462 0.7076 0.7162 Pathogenic 19_16988476_T->C 19 16988476 16988476 T C snp 858.77 1/1 63 30 0 30 1.0 intronic rs2258663 SIN3B AU NM_015260 exon18 c.48219+26T>C 0.754393 0.7312 0.791795 0.7641 0.7088 Uncertain 19_16999897_T->C 19 16999897 16999897 T C snp 34.77 0/1 63 8 6 2 0.25 UTR5 rs773905 F2RL3 AU 0.569289 0.2986 Uncertain 19_17003789_T->G 19 17003789 17003789 T G snp 1762.77 0/1 99 141 68 73 0.52 UTR3 rs773901 CPAMD8 AU 0.564097 0.3026 0.601151 0.5377 0.3251 Uncertain 19_17004049_T->C 19 17004049 17004049 T C snp 825.77 0/1 99 98 57 41 0.42 exonic rs1054533 CPAMD8 AU nonsynonymous SNV NM_015692 exon42 c.A5669G p.Q1890R 0.211462 0.126 0.268153 0.3688 0.2013 0.85 T 0.000 P -0.941 T 0.0 T 0.0 T Pathogenic 19_17006697_C->A 19 17006697 17006697 C A snp 241.77 0/1 99 36 24 12 0.33 intronic rs2227366 CPAMD8 AU NM_015692 exon2 c.3068-289C>A 0.1877 0.0585 0.3597 0.0778 Uncertain 19_17006700_G->T 19 17006700 17006700 G T snp 200.77 0/1 99 35 24 11 0.31 intronic rs2981473 CPAMD8 AU NM_015692 exon2 c.3068-286G>T 0.1877 0.0585 0.2786 0.0522 Uncertain 19_17006787_G->A 19 17006787 17006787 G A snp 207.77 0/1 99 26 15 11 0.42 intronic rs2227367 CPAMD8 AU NM_015692 exon2 c.3068-199G>A 0.188299 0.0585 0.3293 0.0991 Uncertain 19_17008578_G->C 19 17008578 17008578 G C snp 1136.77 0/1 99 108 61 47 0.44 exonic rs2608732 CPAMD8 AU synonymous SNV NM_015692 exon39 c.C5130G p.T1710T 0.564896 0.3016 0.607272 0.5439 0.3338 1.000 P -1.019 T Likely benign 19_17011860_G->T 19 17011860 17011860 G T snp 424.77 0/1 99 28 12 16 0.57 intronic rs60122837 CPAMD8 AU NM_015692 exon7 c.8101-159G>T 0.182708 0.0575 Uncertain 19_17011950_-->C 19 17011950 17011950 - C indel 4334.73 1/1 99 108 0 108 1.0 intronic rs386388644 CPAMD8 AU NM_015692 exon7 c.8101-69insC 1 1 Uncertain 19_17015428_G->A 19 17015428 17015428 G A snp 361.77 0/1 99 25 12 13 0.52 intronic rs773863 CPAMD8 AU NM_015692 exon12 c.11444+66G>A 0.332668 0.0585 Uncertain 19_17025292_G->A 19 17025292 17025292 G A snp 4075.77 1/1 99 143 0 143 1.0 exonic rs706761 CPAMD8 AU nonsynonymous SNV NM_015692 exon29 c.C3944T p.T1315I 0.643371 0.7073 0.631304 0.5629 0.7044 0.18 T 1.0 P -1.030 T 0.572 P 0.285 P Pathogenic 19_17032493_CAG->- 19 17032493 17032495 CAG - indel 271.73 0/1 99 11 5 6 0.55 intronic rs552734518 CPAMD8 AU NM_015692 exon16 c.28796-221_28796-219delCAG 0.499002 0.5774 Uncertain 19_17032550_A->G 19 17032550 17032550 A G snp 706.77 0/1 99 66 33 33 0.5 intronic rs3745331 CPAMD8 AU NM_015692 exon16 c.28796-164A>G 0.499401 0.5774 Uncertain 19_17032559_T->C 19 17032559 17032559 T C snp 703.77 0/1 99 70 36 34 0.49 intronic rs3745332 CPAMD8 AU NM_015692 exon16 c.28796-155T>C 0.499401 0.5774 Uncertain 19_17032969_T->C 19 17032969 17032969 T C snp 56.74 1/1 6 2 0 2 1.0 intronic rs10401666 CPAMD8 AU NM_015692 exon16 c.28878+173T>C 0.515974 0.5794 Uncertain 19_17068917_T->C 19 17068917 17068917 T C snp 99.28 1/1 9 3 0 3 1.0 intronic rs74260295 CPAMD8 AU NM_015692 exon24 c.64807+192T>C 0.0123802 0.0605 Uncertain 19_17081790_G->A 19 17081790 17081790 G A snp 2140.77 0/1 99 181 91 90 0.5 exonic rs74937996 CPAMD8 AU synonymous SNV NM_015692 exon18 c.C2265T p.D755D 0.0621006 0.246 0.002951 0.0359 0.2505 0.03 T 0.002 P -1.026 T Likely benign 19_17088299_T->C 19 17088299 17088299 T C snp 572.77 0/1 99 47 21 26 0.55 exonic rs1824152 CPAMD8 AU nonsynonymous SNV NM_015692 exon15 c.A1778G p.H593R 0.566893 0.5625 0.486646 0.4150 0.5662 0.55 T 1.000 P -1.061 T 0.0 T 0.001 T Pathogenic 19_17088319_G->T 19 17088319 17088319 G T snp 644.77 0/1 99 49 21 28 0.57 exonic rs3745335 CPAMD8 AU nonsynonymous SNV NM_015692 exon15 c.C1758A p.D586E 0.349042 0.2837 0.320987 0.2936 0.2673 0.96 T 0.959 P -0.965 T 0.002 T 0.023 T Pathogenic 19_17091368_T->G 19 17091368 17091368 T G snp 1693.77 0/1 99 117 49 68 0.58 exonic rs8103646 CPAMD8 AU synonymous SNV NM_015692 exon14 c.A1665C p.R555R 0.473842 0.5506 0.397783 0.3693 0.5530 1.000 P -0.938 T Likely benign 19_17091533_C->T 19 17091533 17091533 C T snp 2275.77 0/1 99 204 100 104 0.51 intronic rs8100517 CPAMD8 AU NM_015692 exon29 c.87578+37C>T 0.485024 0.5506 0.406490 0.3738 0.5511 Uncertain 19_17100438_T->A 19 17100438 17100438 T A snp 1118.77 1/1 84 30 0 30 1.0 intronic rs4447554 CPAMD8 AU NM_015692 exon30 c.96534-14T>A 0.577476 0.628 0.558012 0.4860 0.6053 Uncertain 19_17100552_A->G 19 17100552 17100552 A G snp 7711.77 1/1 99 250 0 250 1.0 exonic rs1973093 CPAMD8 AU synonymous SNV NM_015692 exon13 c.T1437C p.P479P 0.608427 0.629 0.580262 0.5133 0.6075 0.998 P -1.031 T Likely benign 19_17107825_G->A 19 17107825 17107825 G A snp 2336.77 0/1 99 171 78 93 0.54 intronic rs3745337 CPAMD8 AU NM_015692 exon32 c.104002-95G>A 0.326078 0.502 Uncertain 19_17108053_C->T 19 17108053 17108053 C T snp 1438.77 0/1 99 158 96 62 0.39 exonic rs12974937 CPAMD8 AU nonsynonymous SNV NM_015692 exon11 c.G1104A p.M368I 0.178315 0.1012 0.200853 0.1760 0.1135 0.33 T 0.000 P -0.941 T 0.012 T 0.007 T Pathogenic 19_17108135_C->T 19 17108135 17108135 C T snp 2000.77 0/1 99 146 59 87 0.6 exonic rs3745340 CPAMD8 AU nonsynonymous SNV NM_015692 exon11 c.G1022A p.R341Q 0.329273 0.5 0.317895 0.4111 0.5509 0.34 T 0.000 P -0.913 T 0.001 T 0.0 T Pathogenic 19_17108283_A->G 19 17108283 17108283 A G snp 285.77 0/1 99 24 13 11 0.46 intronic rs12982311 CPAMD8 AU NM_015692 exon32 c.104230+135A>G 0.229233 0.1012 Uncertain 19_17111297_A->G 19 17111297 17111297 A G snp 2585.77 1/1 99 95 0 95 1.0 exonic rs4808551 CPAMD8 AU nonsynonymous SNV NM_015692 exon10 c.T935C p.M312T 0.748403 0.6845 0.821152 0.7788 0.6903 0.86 T 0.0 P -1.003 T 0.0 T 0.0 T Pathogenic 19_17111411_A->G 19 17111411 17111411 A G snp 2902.77 1/1 99 103 0 103 1.0 intronic rs4808064 CPAMD8 AU NM_015692 exon33 c.107414+79A>G 0.741014 0.6835 Uncertain 19_17119560_T->C 19 17119560 17119560 T C snp 563.77 1/1 42 22 0 22 1.0 intronic rs897768 CPAMD8 AU NM_015692 exon36 c.115451+191T>C 0.983626 0.9216 0.999826 0.9933 0.9254 Uncertain 19_17161093_T->C 19 17161093 17161093 T C snp 35.77 0/1 60 4 2 2 0.5 intronic rs7260259 HAUS8 AU NM_033417 exon1 c.304+107T>C 0.745607 0.5089 Uncertain 19_17169758_G->C 19 17169758 17169758 G C snp 1479.77 0/1 99 109 50 59 0.54 intronic rs2305757 HAUS8 AU NM_033417 exon5 c.9004+72G>C 0.470847 0.4058 Uncertain 19_17170540_G->A 19 17170540 17170540 G A snp 293.77 0/1 99 23 13 10 0.43 intronic rs1551552 HAUS8 AU NM_033417 exon6 c.9779+79G>A 0.46905 0.4048 Uncertain 19_17170541_G->T 19 17170541 17170541 G T snp 288.77 0/1 99 23 13 10 0.43 intronic rs1551551 HAUS8 AU NM_033417 exon6 c.9779+80G>T 0.471246 0.4058 Uncertain 19_17170885_C->T 19 17170885 17170885 C T snp 1750.77 0/1 99 153 73 80 0.52 exonic rs1130222 HAUS8 AU nonsynonymous SNV NM_033417 exon5 c.G247A p.G83R 0.471246 0.4058 0.432185 0.4658 0.4434 0.05 T 0.0 P -0.949 T 0.062 T 0.005 T Pathogenic 19_17173487_A->G 19 17173487 17173487 A G snp 1651.77 0/1 99 128 59 69 0.54 intronic rs3816550 HAUS8 AU NM_033417 exon8 c.12825-20A>G 0.471246 0.4058 0.431878 0.4660 0.4440 Uncertain 19_17179789_G->A 19 17179789 17179789 G A snp 958.77 0/1 99 86 45 41 0.48 intronic rs2305754 HAUS8 AU NM_033417 exon9 c.19158-51G>A 0.702676 0.4802 0.733883 Uncertain 19_17186127_A->C 19 17186127 17186127 A C snp 2628.77 0/1 99 239 123 116 0.49 intronic rs2305752 HAUS8 AU NM_033417 exon11 c.25521-76A>C 0.489417 0.4067 0.452913 Uncertain 19_17186136_C->A 19 17186136 17186136 C A snp 2596.77 0/1 99 250 129 121 0.48 intronic rs2305751 HAUS8 AU NM_033417 exon11 c.25521-67C>A 0.715056 0.5109 0.729961 Uncertain 19_17213536_T->C 19 17213536 17213536 T C snp 40.77 0/1 69 5 3 2 0.4 intronic rs7251862 MYO9B AU NM_004145 exon2 c.840+169T>C 0.738019 0.5407 Uncertain 19_17256032_G->A 19 17256032 17256032 G A snp 83.28 1/1 9 3 0 3 1.0 intronic rs59360945 MYO9B AU NM_004145 exon3 c.43679-174G>A 0.196486 0.0724 Uncertain 19_17270044_C->T 19 17270044 17270044 C T snp 99.28 1/1 9 3 0 3 1.0 intronic rs28531775 MYO9B AU NM_004145 exon8 c.57677-160C>T 0.342851 0.3502 Uncertain 19_17273893_G->T 19 17273893 17273893 G T snp 3397.77 1/1 99 125 0 125 1.0 exonic rs7256689 MYO9B AU synonymous SNV NM_004145 exon10 c.G1632T p.L544L 0.748203 0.7312 0.741793 0.7024 0.7626 Uncertain 19_17278979_G->T 19 17278979 17278979 G T snp 788.77 1/1 60 23 1 22 0.96 intronic rs4808583 MYO9B AU NM_004145 exon11 c.66347+105G>T 0.780751 0.7341 Uncertain 19_17283383_-->G 19 17283383 17283383 - G indel 572.73 1/1 45 18 0 18 1.0 intronic rs11463235 MYO9B AU NM_004145 exon12 c.70760+96insG 1 1 Uncertain 19_17286438_A->T 19 17286438 17286438 A T snp 406.77 0/1 99 30 14 16 0.53 intronic rs8113494 MYO9B AU NM_004145 exon14 c.73944-33A>T 0.280152 0.1558 0.333387 0.3274 0.2052 Uncertain 19_17286634_TTT->- 19 17286634 17286636 TTT - indel 290.73 0/1 58 29 4 25 0.86 intronic rs534528766 MYO9B AU NM_004145 exon14 c.74023+84_74023+86delTTT 0.31869 0.5218 Uncertain 19_17286663_T->C 19 17286663 17286663 T C snp 94.77 0/1 99 12 7 5 0.42 intronic rs28735424 MYO9B AU NM_004145 exon14 c.74023+113T>C 0.259185 0.4137 Uncertain 19_17296679_G->A 19 17296679 17296679 G A snp 858.77 0/1 99 71 32 39 0.55 intronic rs2279004 MYO9B AU NM_004145 exon18 c.84202-50G>A 0.209065 0.4325 0.135474 Uncertain 19_17298615_C->G 19 17298615 17298615 C G snp 139.03 1/1 12 4 0 4 1.0 intronic rs7250808 MYO9B AU NM_004145 exon19 c.86216-128C>G 0.639177 0.7222 Uncertain 19_17298679_G->C 19 17298679 17298679 G C snp 1166.77 1/1 84 38 0 38 1.0 intronic rs7249926 MYO9B AU NM_004145 exon19 c.86216-64G>C 0.639177 0.7222 Uncertain 19_17298724_G->C 19 17298724 17298724 G C snp 2147.77 1/1 99 76 0 76 1.0 intronic rs9305088 MYO9B AU NM_004145 exon19 c.86216-19G>C 0.639177 0.7222 0.507357 0.5400 0.7622 Uncertain 19_17298893_G->T 19 17298893 17298893 G T snp 2345.77 1/1 99 89 0 89 1.0 intronic rs3826689 MYO9B AU NM_004145 exon19 c.86327+39G>T 0.638978 0.7222 0.490902 0.4949 0.7039 Uncertain 19_17298946_T->C 19 17298946 17298946 T C snp 1354.77 1/1 99 48 0 48 1.0 intronic rs3826690 MYO9B AU NM_004145 exon19 c.86327+92T>C 0.639377 0.7222 Uncertain 19_17299009_A->G 19 17299009 17299009 A G snp 344.78 1/1 27 12 0 12 1.0 intronic rs3826691 MYO9B AU NM_004145 exon19 c.86327+155A>G 0.639377 0.7222 Uncertain 19_17301699_A->C 19 17301699 17301699 A C snp 298.78 1/1 24 8 0 8 1.0 intronic rs62126161 MYO9B AU NM_004145 exon20 c.89378-206A>C 0.641374 0.7222 Uncertain 19_17301706_G->A 19 17301706 17301706 G A snp 430.77 1/1 33 12 0 12 1.0 intronic rs62126162 MYO9B AU NM_004145 exon20 c.89378-199G>A 0.638379 0.7222 Uncertain 19_17301733_T->C 19 17301733 17301733 T C snp 897.77 1/1 66 26 0 26 1.0 intronic rs34092109 MYO9B AU NM_004145 exon20 c.89378-172T>C 0.640974 0.7222 Uncertain 19_17301863_G->A 19 17301863 17301863 G A snp 3960.77 1/1 99 154 0 154 1.0 intronic rs962919 MYO9B AU NM_004145 exon20 c.89378-42G>A 0.635982 0.7173 0.495604 0.5024 0.7463 Uncertain 19_17301880_T->C 19 17301880 17301880 T C snp 4106.77 1/1 99 154 0 154 1.0 intronic rs4808072 MYO9B AU NM_004145 exon20 c.89378-25T>C 0.753395 0.7222 0.692571 0.6550 0.7503 Uncertain 19_17302056_A->G 19 17302056 17302056 A G snp 812.77 1/1 60 25 0 25 1.0 intronic rs962918 MYO9B AU NM_004145 exon20 c.89501+28A>G 0.753594 0.7222 0.695460 0.6512 0.7467 Uncertain 19_17302113_CT->- 19 17302113 17302114 CT - indel 301.77 1/1 21 8 0 8 1.0 intronic rs10541498 MYO9B AU NM_004145 exon20 c.89501+85_89501+86delCT 0.638778 0.7173 Uncertain 19_17303460_A->G 19 17303460 17303460 A G snp 214.84 1/1 18 6 0 6 1.0 intronic rs4808594 MYO9B AU NM_004145 exon21 c.91027-94A>G 0.64397 0.7391 Uncertain 19_17303774_T->G 19 17303774 17303774 T G snp 3169.77 1/1 99 111 0 111 1.0 exonic rs1545620 MYO9B AU nonsynonymous SNV NM_004145 exon21 c.T3031G p.S1011A 0.644369 0.7391 0.524672 0.5490 0.7774 1 T 0.0 P -0.936 T 0.0 T 0.001 T ID=CM066145;DIS=Inflammatory bowel disease, association with;TAG=DP;PUB=17087940 DP Pathogenic 19_17305440_T->C 19 17305440 17305440 T C snp 1760.77 1/1 99 54 0 54 1.0 exonic rs1064305 MYO9B AU synonymous SNV NM_004145 exon22 c.T3204C p.G1068G 0.644169 0.7401 0.511392 0.5089 0.7739 Uncertain 19_17306031_T->C 19 17306031 17306031 T C snp 4252.77 1/1 99 155 1 154 0.99 exonic rs2279003 MYO9B AU synonymous SNV NM_004145 exon22 c.T3795C p.P1265P 0.759185 0.745 0.689968 0.6576 0.7769 Uncertain 19_17311442_C->G 19 17311442 17311442 C G snp 1095.77 1/1 81 40 0 40 1.0 splicing rs2305766 MYO9B AU NM_004145 exon26 c.98920-5C>G 0.576078 0.746 0.413334 0.5106 0.7886 Pathogenic 19_17312992_C->T 19 17312992 17312992 C T snp 7631.77 1/1 99 250 0 250 1.0 exonic rs2305765 MYO9B AU synonymous SNV NM_004145 exon28 c.C4716T p.V1572V 0.600439 0.746 0.442196 0.5004 0.7769 Uncertain 19_17313178_-->T 19 17313178 17313178 - T indel 1214.73 1/1 84 28 0 28 1.0 intronic rs11392202 MYO9B AU NM_004145 exon28 c.100585+66insT 0.624201 0.746 Uncertain 19_17313619_C->A 19 17313619 17313619 C A snp 4334.77 1/1 99 146 0 146 1.0 intronic rs8101251 MYO9B AU NM_004145 exon29 c.101123-31C>A 0.61242 0.746 0.457623 0.4948 0.7342 Uncertain 19_17313833_G->A 19 17313833 17313833 G A snp 7464.77 1/1 99 250 0 250 1.0 intronic rs2305764 MYO9B AU NM_004145 exon30 c.101428-122G>A 0.61262 0.746 0.5195 0.7477 ID=CS054907;DIS=Celiac disease, increased risk, association with;TAG=DP;PUB=16282976 DP Uncertain 19_17314189_C->T 19 17314189 17314189 C T snp 48.74 1/1 6 2 0 2 1.0 intronic rs1811525 MYO9B AU NM_004145 exon30 c.101540+122C>T 0.61242 0.746 Uncertain 19_17315973_-->G 19 17315973 17315973 - G indel 252.77 1/1 21 7 0 7 1.0 intronic MYO9B AU NM_004145 exon31 c.103544-98insG Uncertain 19_17316253_T->C 19 17316253 17316253 T C snp 2959.77 1/1 99 111 0 111 1.0 intronic rs2305763 MYO9B AU NM_004145 exon31 c.103618+108T>C 0.629792 0.746 Uncertain 19_17316782_T->C 19 17316782 17316782 T C snp 3396.77 1/1 99 128 0 128 1.0 exonic rs7248508 MYO9B AU nonsynonymous SNV NM_004145 exon32 c.T5078C p.V1693A 0.631589 0.746 0.480942 0.5198 0.7788 0.93 T 0.0 P -0.953 T 0.0 T 0.0 T Pathogenic 19_17317252_A->G 19 17317252 17317252 A G snp 1344.77 1/1 96 46 0 46 1.0 intronic rs2279002 MYO9B AU NM_004145 exon33 c.104658+67A>G 0.503794 0.745 ID=CS066299;DIS=Inflammatory bowel disease, association with;TAG=DP;PUB=17087940 DP Uncertain 19_17317955_A->G 19 17317955 17317955 A G snp 2114.77 1/1 99 75 0 75 1.0 exonic rs8110964 MYO9B AU synonymous SNV NM_004145 exon35 c.A5526G p.S1842S 0.63139 0.746 0.479369 0.5093 0.7706 Uncertain 19_17321487_A->G 19 17321487 17321487 A G snp 221.84 1/1 18 8 0 8 1.0 intronic rs12982797 MYO9B AU NM_004145 exon38 c.108996-36A>G 0.63139 0.746 0.447120 0.5106 0.7295 Uncertain 19_17321669_A->G 19 17321669 17321669 A G snp 983.77 1/1 69 39 0 39 1.0 intronic rs12463169 MYO9B AU NM_004145 exon38 c.109130+12A>G 0.630591 0.744 0.471700 0.5409 0.7722 Uncertain 19_17329935_-->A 19 17329935 17329935 - A indel 106.73 0/1 99 54 30 24 0.44 intronic rs71180373 USE1 AU NM_018467 exon7 c.3807-86insA Uncertain 19_17330060_T->C 19 17330060 17330060 T C snp 5132.77 1/1 99 193 0 193 1.0 exonic rs414528 USE1 AU nonsynonymous SNV NM_018467 exon7 c.T461C p.L154S 0.984824 0.9315 0.999599 0.9916 0.9246 0.82 T 1.0 P -0.962 T 0.0 T 0.0 T Pathogenic 19_17330651_G->T 19 17330651 17330651 G T snp 748.77 0/1 99 73 40 33 0.45 downstream rs3745162 USE1 AU 0.14996 0.1319 0.118675 0.1110 0.1424 Uncertain 19_17337025_C->T 19 17337025 17337025 C T snp 1484.77 0/1 99 105 49 56 0.53 UTR5 rs2288544 OCEL1 AU 0.222444 0.4028 0.197568 0.2940 0.4907 Uncertain 19_17337223_G->A 19 17337223 17337223 G A snp 1027.77 1/1 78 30 0 30 1.0 intronic rs2288542 OCEL1 AU NM_024578 exon1 c.69+98G>A 0.704872 0.7708 Uncertain 19_17337555_C->A 19 17337555 17337555 C A snp 275.77 0/1 99 20 8 12 0.6 exonic rs3745163 OCEL1 AU synonymous SNV NM_024578 exon2 c.C123A p.T41T 0.228834 0.4018 0.176460 0.2959 0.4670 Uncertain 19_17338033_C->T 19 17338033 17338033 C T snp 4122.77 1/1 99 132 0 132 1.0 intronic rs891202 OCEL1 AU NM_024578 exon3 c.952+25C>T 0.466853 0.5317 0.426570 0.4086 0.5445 Uncertain 19_17360864_C->T 19 17360864 17360864 C T snp 267.8 1/1 21 7 0 7 1.0 UTR3 rs3745167 USHBP1 AU 0.596845 0.7946 Uncertain 19_17360878_A->G 19 17360878 17360878 A G snp 423.77 1/1 33 12 0 12 1.0 UTR3 rs3745168 USHBP1 AU 0.597045 0.7946 Uncertain 19_17362526_A->G 19 17362526 17362526 A G snp 2584.77 1/1 99 94 1 93 0.99 intronic rs10469471 USHBP1 AU NM_031941 exon2 c.1480+13A>G 0.73762 0.7966 0.667000 0.6627 0.8226 Uncertain 19_17362941_A->C 19 17362941 17362941 A C snp 969.77 1/1 69 36 0 36 1.0 intronic rs7247493 USHBP1 AU NM_031941 exon3 c.1793+115A>C 0.764577 0.7976 Uncertain 19_17366111_A->- 19 17366111 17366111 A - indel 358.73 0/1 64 22 5 17 0.77 intronic rs35026554 USHBP1 AU NM_031941 exon4 c.5160-82delA Uncertain 19_17366278_T->C 19 17366278 17366278 T C snp 1149.77 0/1 99 108 56 52 0.48 exonic rs4430871 USHBP1 AU synonymous SNV NM_001297703 exon9 c.A1416G p.A472A 0.779353 0.7996 0.710057 0.6741 0.8200 Uncertain 19_17367109_T->C 19 17367109 17367109 T C snp 222.84 1/1 18 6 0 6 1.0 intronic rs4808612 USHBP1 AU NM_031941 exon5 c.6246-170T>C 1 1 Uncertain 19_17367585_G->C 19 17367585 17367585 G C snp 131.77 0/1 99 21 15 6 0.29 intronic rs4464206 USHBP1 AU NM_031941 exon5 c.6496+56G>C 0.784944 0.8641 Uncertain 19_17379534_G->A 19 17379534 17379534 G A snp 175.77 0/1 99 13 6 7 0.54 intronic rs116873439 BABAM1 AU 0.052516 0.0298 0.1816 0.1012 Uncertain 19_17393770_G->C 19 17393770 17393770 G C snp 843.77 0/1 99 96 59 37 0.39 exonic rs543764847 ANKLE1 AU nonsynonymous SNV NM_152363 exon4 c.G581C p.R194P 0.000199681 0.001 7.115e-05 0.0013 0.38 T 1 N -1.019 T 0.006 T 0.003 T Pathogenic 19_17397497_G->T 19 17397497 17397497 G T snp 132.77 0/1 99 47 36 11 0.23 UTR3 rs56209027 ANKLE1 AU 0.0018 0 Uncertain 19_17397500_TT->- 19 17397500 17397501 TT - indel 853.73 0/1 99 49 24 25 0.51 UTR3 ANKLE1 AU 0.0804 0.0690 Uncertain 19_17451981_G->A 19 17451981 17451981 G A snp 1024.77 0/1 99 99 56 43 0.43 exonic rs3745193 GTPBP3 AR nonsynonymous SNV NM_133644 exon7 c.G1199A p.R400H 0.0952476 0.2976 0.021144 0.0666 0.3226 0.04 T 0.999 P -0.918 T 0.084 T 0.039 T Pathogenic 19_17476251_G->C 19 17476251 17476251 G C snp 2614.77 0/1 99 208 102 106 0.51 exonic rs3810208 PLVAP AU synonymous SNV NM_031310 exon3 c.C1023G p.S341S 0.0339457 0.0734 0.013763 0.0126 0.0721 Uncertain 19_17502698_G->A 19 17502698 17502698 G A snp 575.77 0/1 99 24 6 18 0.75 intergenic rs2278235 PLVAP AU 0.571286 0.3859 0.7852 0.4762 Uncertain 19_17514440_G->C 19 17514440 17514440 G C snp 388.77 0/1 99 18 6 12 0.67 intronic rs919265 BST2 AU 0.876198 0.6111 Uncertain 19_17514646_-->GGG 19 17514646 17514646 - GGG indel 5245.73 0/1 99 229 123 106 0.46 intronic rs113321277 BST2 AU NM_004335 exon2 c.130+13insGGG 0.870807 0.6101 0.955751 0.9365 0.6241 Uncertain 19_17516400_-->GCTGAAAG 19 17516400 17516400 - GCTGAAAG indel 4423.73 0/1 99 116 69 47 0.41 UTR5 rs111617488 BST2 AU 0.875 0.6171 0.950169 0.9379 0.6251 Uncertain 19_17530829_C->A 19 17530829 17530829 C A snp 41.77 0/1 69 5 3 2 0.4 UTR5 rs113937404 MVB12A AU Uncertain 19_17531450_G->A 19 17531450 17531450 G A snp 854.77 0/1 99 87 47 40 0.46 intronic rs2303680 MVB12A AU NM_001304547 exon4 c.10+7G>A 0.606829 0.4385 0.625250 0.6029 0.4590 Uncertain 19_17533126_A->G 19 17533126 17533126 A G snp 567.77 0/1 99 62 30 32 0.52 intronic rs2303678 MVB12A AU NM_001304547 exon5 c.1707-14A>G 0.559704 0.3353 0.717823 0.6914 0.3516 Uncertain 19_17534693_T->C 19 17534693 17534693 T C snp 1524.77 0/1 99 121 58 63 0.52 intronic rs2288408 MVB12A AU NM_001304547 exon7 c.3175+85T>C 0.853035 0.5585 Uncertain 19_17535546_C->T 19 17535546 17535546 C T snp 684.77 0/1 99 46 19 27 0.59 intronic rs4808636 MVB12A AU NM_001304547 exon9 c.4053+60C>T 0.858027 0.5565 0.964082 Uncertain 19_17535658_A->C 19 17535658 17535658 A C snp 860.77 0/1 99 108 64 44 0.41 intronic rs4808637 MVB12A AU NM_001304547 exon10 c.4306-81A>C 0.718251 0.4583 Uncertain 19_17544165_C->T 19 17544165 17544165 C T snp 484.77 0/1 99 68 47 21 0.31 intergenic rs10415889 MVB12A AU 0.846446 0.5645 0.9535 0.5410 Uncertain 19_17544244_C->T 19 17544244 17544244 C T snp 566.77 0/1 99 69 41 28 0.41 intergenic rs34189069 MVB12A AU 0.221046 0.2163 0.3363 0.2727 Uncertain 19_17547292_A->G 19 17547292 17547292 A G snp 1339.77 1/1 96 47 0 47 1.0 exonic rs4808641 TMEM221 AU nonsynonymous SNV NM_001190844 exon3 c.T851C p.M284T 0.895168 0.7808 0.8894 0.8182 1 T 0.0 P -0.953 T Pathogenic 19_17628567_C->T 19 17628567 17628567 C T snp 2716.77 0/1 99 250 139 111 0.44 exonic rs547519107 PGLS AU nonsynonymous SNV NM_012088 exon4 c.C547T p.P183S 0.000199681 0.001 4.122e-05 0.0006 0.12 T 1 D -0.514 T 0.995 D 0.971 D Pathogenic 19_17643065_T->C 19 17643065 17643065 T C snp 1126.77 0/1 99 90 44 46 0.51 intronic rs12984143 FAM129C AU NM_173544 exon4 c.8824-6T>C 0.744209 0.5179 0.845917 0.8124 0.4937 Uncertain 19_17648350_T->C 19 17648350 17648350 T C snp 1003.77 1/1 75 28 0 28 1.0 splicing rs8107859 FAM129C AU NM_173544 exon6 c.14102+1T>C 0.900958 0.7371 0.978763 0.9364 0.7496 0.49 T 1.000 P -0.964 T Pathogenic 19_17651370_A->G 19 17651370 17651370 A G snp 1556.77 0/1 99 134 66 68 0.51 exonic rs11878663 FAM129C AU synonymous SNV NM_001098524 exon10 c.A1242G p.S414S 0.830072 0.5714 0.911852 0.8547 0.5753 Uncertain 19_17660300_G->A 19 17660300 17660300 G A snp 3398.77 0/1 99 250 102 148 0.59 exonic rs11666267 FAM129C AU nonsynonymous SNV NM_001098524 exon15 c.G1807A p.G603S 0.402955 0.3651 0.499154 0.4849 0.3512 0.89 T 0.0 P -0.954 T 0.708 T 0.138 P Pathogenic 19_17666636_C->T 19 17666636 17666636 C T snp 494.77 0/1 99 24 5 19 0.79 exonic rs7259723 COLGALT1 AU synonymous SNV NM_024656 exon1 c.C114T p.F38F 0.361022 0.374 0.5794 0.5741 Uncertain 19_17671401_A->C 19 17671401 17671401 A C snp 767.77 0/1 99 53 24 29 0.55 intronic rs117136315 COLGALT1 AU NM_024656 exon3 c.4752+127A>C 0.00219649 0.0109 Uncertain 19_17678451_A->G 19 17678451 17678451 A G snp 405.77 0/1 99 20 7 13 0.65 intronic rs4808667 COLGALT1 AU NM_024656 exon4 c.11827+102A>G 0.220847 0.0893 Uncertain 19_17679597_A->G 19 17679597 17679597 A G snp 1494.77 0/1 99 122 65 57 0.47 intronic rs3848645 COLGALT1 AU NM_024656 exon5 c.13000+75A>G 0.843251 0.6111 Uncertain 19_17691751_C->T 19 17691751 17691751 C T snp 772.77 0/1 99 60 30 30 0.5 intronic rs891184 COLGALT1 AU NM_024656 exon11 c.25192+37C>T 0.323682 0.3651 0.357143 0.3960 0.3558 Uncertain 19_17692324_T->G 19 17692324 17692324 T G snp 1114.77 0/1 99 93 47 46 0.49 UTR3 rs8100092 COLGALT1 AU 0.82488 0.5734 Uncertain 19_17717136_C->T 19 17717136 17717136 C T snp 2648.77 0/1 99 160 54 106 0.66 exonic rs558914273 UNC13A AU synonymous SNV NM_001080421 exon42 c.G4839A p.E1613E 0.000199681 0.001 0 0 Uncertain 19_17727285_T->G 19 17727285 17727285 T G snp 100.77 0/1 99 41 28 13 0.32 intronic UNC13A AU NM_001080421 exon4 c.11648-1225T>G Uncertain 19_17728502_T->C 19 17728502 17728502 T C snp 889.77 0/1 99 106 62 44 0.42 intronic rs2287851 UNC13A AU NM_001080421 exon4 c.11648-8T>C 0.429313 0.1329 0.571166 0.4163 0.1342 Uncertain 19_17729120_C->T 19 17729120 17729120 C T snp 469.77 0/1 99 25 11 14 0.56 intronic rs2287850 UNC13A AU NM_001080421 exon5 c.12367-109C>T 0.356629 0.1339 Uncertain 19_17729148_C->T 19 17729148 17729148 C T snp 1139.77 0/1 99 68 32 36 0.53 intronic rs2287849 UNC13A AU NM_001080421 exon5 c.12367-81C>T 0.242412 0.125 Uncertain 19_17729672_-->G 19 17729672 17729672 - G indel 2780.73 0/1 99 231 118 113 0.49 intronic rs397936956 UNC13A AU NM_001080421 exon6 c.12852-42insG 0.228035 0.125 0.2981 0.1316 Uncertain 19_17729787_T->G 19 17729787 17729787 T G snp 917.77 0/1 99 94 56 38 0.4 intronic rs56257446 UNC13A AU NM_001080421 exon6 c.12909+16T>G 0.228035 0.125 0.313114 0.2985 0.1319 Uncertain 19_17734488_A->G 19 17734488 17734488 A G snp 143.03 1/1 12 5 0 5 1.0 intronic rs10419420 UNC13A AU NM_001080421 exon9 c.18769-1143A>G 0.853035 0.5565 Uncertain 19_17737435_A->G 19 17737435 17737435 A G snp 1331.77 0/1 99 106 55 51 0.48 intronic rs12610816 UNC13A AU NM_001080421 exon10 c.20579-6A>G 0.115615 0.121 0.102192 0.1558 0.1526 Uncertain 19_17737650_G->A 19 17737650 17737650 G A snp 1771.77 0/1 99 165 93 72 0.44 intronic rs12609205 UNC13A AU NM_001080421 exon10 c.20732+56G>A 0.115415 0.121 Uncertain 19_17738466_T->C 19 17738466 17738466 T C snp 1033.77 0/1 99 66 27 39 0.59 intronic rs3810441 UNC13A AU NM_001080421 exon11 c.21544+60T>C 0.114816 0.12 Uncertain 19_17738850_C->T 19 17738850 17738850 C T snp 492.77 0/1 99 25 8 17 0.68 intronic rs56388321 UNC13A AU NM_001080421 exon12 c.21887+101C>T 0.425919 0.12 Uncertain 19_17741047_A->G 19 17741047 17741047 A G snp 905.77 0/1 99 76 34 42 0.55 exonic rs10413821 UNC13A AU synonymous SNV NM_001080421 exon29 c.T3576C p.V1192V 0.480032 0.2966 0.486315 0.4392 0.4049 Uncertain 19_17744075_-->C 19 17744075 17744075 - C indel 1023.73 0/1 99 72 36 36 0.5 intronic rs397816020 UNC13A AU NM_001080421 exon17 c.27140+73insC 0.273562 0.2093 Uncertain 19_17746947_A->G 19 17746947 17746947 A G snp 2622.77 1/1 99 98 0 98 1.0 exonic rs4239634 UNC13A AU nonsynonymous SNV NM_001080421 exon25 c.T3101C p.L1034P 0.999201 0.997 0.9997 0.9972 1 T 1.000 P -0.952 T Pathogenic 19_17758311_C->A 19 17758311 17758311 C A snp 2031.77 0/1 99 156 70 86 0.55 intronic rs75887471 UNC13A AU NM_001080421 exon27 c.41439+10C>A 0.165136 0.3938 0.032875 0.0721 0.3691 Uncertain 19_17760561_C->T 19 17760561 17760561 C T snp 234.77 0/1 97 11 4 7 0.64 intronic rs11665951 UNC13A AU NM_001080421 exon30 c.43534+165C>T 0.811701 0.7004 Uncertain 19_17763392_A->G 19 17763392 17763392 A G snp 1316.77 0/1 99 113 60 53 0.47 intronic rs1159365 UNC13A AU NM_001080421 exon31 c.46577-47A>G 0.811901 0.6597 0.896789 0.8210 0.6274 Uncertain 19_17777431_A->G 19 17777431 17777431 A G snp 946.77 0/1 99 111 65 46 0.41 intronic rs10424761 UNC13A AU NM_001080421 exon36 c.60596-27A>G 0.752396 0.5139 0.865237 0.8000 0.4851 Uncertain 19_17777508_C->G 19 17777508 17777508 C G snp 702.77 0/1 99 87 57 30 0.34 exonic rs9305092 UNC13A AU synonymous SNV NM_001080421 exon7 c.G474C p.S158S 0.751997 0.5099 0.865575 0.8013 0.4817 Uncertain 19_17778832_A->G 19 17778832 17778832 A G snp 1721.77 0/1 99 150 78 72 0.48 intronic rs7248783 UNC13A AU NM_001080421 exon37 c.62063-93A>G 0.758187 0.5258 Uncertain 19_17780602_C->T 19 17780602 17780602 C T snp 40.77 0/1 31 3 1 2 0.67 intronic rs8110254 UNC13A AU NM_001080421 exon38 c.63623+117C>T 0.804712 0.5665 Uncertain 19_17875023_T->C 19 17875023 17875023 T C snp 96.28 1/1 9 3 0 3 1.0 intronic rs7256565 FCHO1 AU NM_001161357 exon6 c.9210-160T>C 0.53095 0.7312 Uncertain 19_17881171_G->A 19 17881171 17881171 G A snp 2062.77 1/1 99 71 0 71 1.0 intronic rs12327667 FCHO1 AU NM_001161357 exon8 c.15260-62G>A 0.551318 0.7292 Uncertain 19_17881552_C->T 19 17881552 17881552 C T snp 475.77 1/1 36 18 0 18 1.0 intronic rs3746197 FCHO1 AU NM_001161357 exon9 c.15627-48C>T 0.566693 0.7758 0.453867 0.4766 0.7593 Uncertain 19_17885270_A->G 19 17885270 17885270 A G snp 1780.77 1/1 99 60 0 60 1.0 exonic rs2287859 FCHO1 AU synonymous SNV NM_001161359 exon11 c.A753G p.P251P 0.594649 0.8254 0.459705 0.4931 0.8234 Uncertain 19_17885308_G->A 19 17885308 17885308 G A snp 989.77 1/1 72 34 0 34 1.0 intronic rs2287858 FCHO1 AU NM_001161357 exon13 c.19314+21G>A 0.576278 0.7778 0.459096 0.4797 0.7622 Uncertain 19_17885325_A->C 19 17885325 17885325 A C snp 807.77 1/1 60 25 0 25 1.0 intronic rs2287857 FCHO1 AU NM_001161357 exon13 c.19314+38A>C 0.576278 0.7778 0.456783 0.4766 0.7588 Uncertain 19_17885336_C->T 19 17885336 17885336 C T snp 523.77 1/1 39 18 1 17 0.94 intronic rs2287856 FCHO1 AU NM_001161357 exon13 c.19314+49C>T 0.866813 0.8244 0.902523 0.9141 0.8081 Uncertain 19_17886940_G->A 19 17886940 17886940 G A snp 4564.77 1/1 99 169 0 169 1.0 exonic rs2287854 FCHO1 AU synonymous SNV NM_001161359 exon14 c.G1002A p.A334A 0.573882 0.7778 0.456943 0.4783 0.7626 Uncertain 19_17887024_T->C 19 17887024 17887024 T C snp 3491.77 1/1 99 116 0 116 1.0 intronic rs2287853 FCHO1 AU NM_001161357 exon17 c.21082-31T>C 0.866813 0.8254 0.901430 0.9143 0.8112 Uncertain 19_17888787_G->A 19 17888787 17888787 G A snp 99.28 1/1 9 7 0 7 1.0 intronic rs4808690 FCHO1 AU NM_001161357 exon19 c.22972-158G>A 0.510383 0.7798 Uncertain 19_17892193_G->C 19 17892193 17892193 G C snp 4401.77 1/1 99 152 0 152 1.0 intronic rs2287852 FCHO1 AU NM_001161357 exon21 c.26179+41G>C 0.85643 0.8254 0.891973 0.9113 0.8104 Uncertain 19_17892478_A->G 19 17892478 17892478 A G snp 1019.77 1/1 75 33 0 33 1.0 intronic rs2042299 FCHO1 AU NM_001161357 exon23 c.26547-42A>G 0.856829 0.8274 0.892050 0.9108 0.8112 Uncertain 19_17892591_A->G 19 17892591 17892591 A G snp 2169.77 1/1 99 84 1 83 0.99 exonic rs2042298 FCHO1 AU synonymous SNV NM_001161359 exon21 c.A1749G p.T583T 0.85643 0.8264 0.892050 0.9110 0.8120 Uncertain 19_17894075_C->T 19 17894075 17894075 C T snp 96.28 1/1 9 4 0 4 1.0 intronic rs1234389 FCHO1 AU NM_001161357 exon24 c.28008+94C>T 0.856829 0.8264 Uncertain 19_17922795_G->A 19 17922795 17922795 G A snp 3333.77 0/1 99 249 127 122 0.49 exonic rs36686 B3GNT3 AU nonsynonymous SNV NM_014256 exon3 c.G983A p.R328H 0.740016 0.505 0.796402 0.7637 0.4866 0.41 T 0.0 P -0.981 T 0.448 T 0.049 P ID=CM076013;DIS=Non-Hodgkin lymphoma, reduced risk, association with;TAG=DP;PUB=17827388 DP Pathogenic 19_17932138_T->C 19 17932138 17932138 T C snp 406.77 0/1 99 60 42 18 0.3 exonic rs6523 INSL3 AD nonsynonymous SNV NM_005543 exon1 c.A178G p.T60A 0.686102 0.6151 0.736350 0.6451 0.5629 1 T 0.0 P -0.966 T 0.0 T 0.001 T Pathogenic 19_17940705_C->T 19 17940705 17940705 C T snp 291.77 0/1 99 21 10 11 0.52 intronic rs60485073 JAK3 AR NM_000215 exon2 c.3365-211C>T 0.139776 0.2778 Uncertain 19_17941294_T->C 19 17941294 17941294 T C snp 806.77 0/1 99 51 17 34 0.67 intronic rs2302603 JAK3 AR NM_000215 exon3 c.3760-17T>C 0.434305 0.4702 0.347923 0.4096 0.4911 CLINSIG=non-pathogenic;CLNDBN=Severe_combined_immunodeficiency_disease;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000030093.1;CLNDSDB=MedGen:SNOMED_CT;CLNDSDBID=C0085110:31323000 Uncertain 19_17942005_A->G 19 17942005 17942005 A G snp 1427.77 0/1 99 112 52 60 0.54 intronic rs3212774 JAK3 AR NM_000215 exon4 c.4485-31A>G 0.433706 0.4722 0.350123 0.3781 0.4545 Uncertain 19_17946054_G->A 19 17946054 17946054 G A snp 575.77 0/1 99 33 11 22 0.67 intronic rs2072496 JAK3 AR NM_000215 exon10 c.8473+30G>A 0.137181 0.2847 0.097953 0.1172 0.2792 Uncertain 19_17951178_G->A 19 17951178 17951178 G A snp 245.77 0/1 99 27 17 10 0.37 intronic rs3212741 JAK3 AR NM_000215 exon16 c.13599+28G>A 0.10603 0.0506 0.166385 0.1842 0.0510 Uncertain 19_17952185_G->T 19 17952185 17952185 G T snp 1139.77 0/1 99 105 53 52 0.5 intronic rs3212733 JAK3 AR NM_000215 exon17 c.14646-12G>T 0.113818 0.0486 0.118988 0.1616 0.0658 CLINSIG=non-pathogenic;CLNDBN=not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000125440.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Uncertain 19_17952609_T->G 19 17952609 17952609 T G snp 639.77 0/1 99 61 31 30 0.49 intronic rs3212730 JAK3 AR NM_000215 exon18 c.15020+38T>G 0.194888 0.1796 0.184426 0.2328 0.1956 Uncertain 19_17955001_C->T 19 17955001 17955001 C T snp 383.77 1/1 30 11 0 11 1.0 intronic rs3212713 JAK3 AR NM_000215 exon23 c.17491-41C>T 0.410743 0.3651 0.352574 0.3607 0.3726 Uncertain 19_17955003_C->T 19 17955003 17955003 C T snp 430.77 1/1 33 12 0 12 1.0 intronic rs3212712 JAK3 AR NM_000215 exon23 c.17491-39C>T 0.46246 0.3651 0.417198 0.3877 0.3812 Uncertain 19_17955021_G->A 19 17955021 17955021 G A snp 534.77 1/1 42 17 0 17 1.0 intronic rs3212711 JAK3 AR NM_000215 exon23 c.17491-21G>A 0.406749 0.3641 0.361867 0.4089 0.4427 Uncertain 19_17973862_G->C 19 17973862 17973862 G C snp 934.77 0/1 99 76 38 38 0.5 intronic rs73020697 RPL18A AU NM_000980 exon4 c.3071+26G>C 0.202476 0.25 0.177802 0.2279 0.2729 Uncertain 19_17983561_C->T 19 17983561 17983561 C T snp 507.77 0/1 99 29 7 22 0.76 intronic rs740695 SLC5A5 AR NM_000453 exon1 c.357+76C>T 0.0826677 0.1042 Uncertain 19_18047521_C->T 19 18047521 18047521 C T snp 823.77 0/1 99 69 41 28 0.41 intronic rs12151269 CCDC124 AU NM_138442 exon2 c.159+133C>T 0.25639 0.4038 Uncertain 19_18053340_T->C 19 18053340 18053340 T C snp 95.77 0/1 99 15 11 4 0.27 intronic rs4808105 CCDC124 AU NM_138442 exon3 c.6235-124T>C 0.6877 0.5228 Uncertain 19_18054643_C->T 19 18054643 18054643 C T snp 398.77 0/1 99 27 11 16 0.59 UTR3 rs1052564 CCDC124 AU 0.268171 0.3998 Uncertain 19_18096073_G->A 19 18096073 18096073 G A snp 1013.77 0/1 99 87 49 38 0.44 intronic rs2278993 KCNN1 AU NM_002248 exon6 c.11423-47G>A 0.201478 0.3155 0.167522 0.1849 0.3403 Uncertain 19_18108956_C->G 19 18108956 18108956 C G snp 4328.77 1/1 99 166 0 166 1.0 splicing rs4808732 KCNN1 AU NM_002248 exon11 c.24263-4C>G 0.52496 0.6597 0.512114 0.5034 0.6697 Pathogenic 19_18110890_C->T 19 18110890 18110890 C T snp 1577.77 1/1 99 56 0 56 1.0 downstream rs4808110 KCNN1 AU 0.510583 0.6468 Uncertain 19_18110994_T->C 19 18110994 18110994 T C snp 154.9 1/1 15 5 0 5 1.0 upstream rs4808733 ARRDC2 AU 0.51877 0.6458 Uncertain 19_18119751_T->C 19 18119751 18119751 T C snp 1737.77 0/1 99 183 106 77 0.42 intronic rs12609555 ARRDC2 AU NM_001025604 exon3 c.7656-28T>C 0.0459265 0.1389 0.020913 0.0354 0.1235 Uncertain 19_18121642_T->C 19 18121642 18121642 T C snp 357.77 0/1 99 22 10 12 0.55 intronic rs112230800 ARRDC2 AU NM_001025604 exon7 c.9415+104T>C 0.0621006 0.1389 Uncertain 19_18123583_C->T 19 18123583 18123583 C T snp 136.77 0/1 99 25 16 9 0.36 intronic rs75499068 ARRDC2 AU NM_001025604 exon8 c.11598-138C>T 0.0467252 0.1409 Uncertain 19_18123617_A->G 19 18123617 18123617 A G snp 357.77 0/1 99 46 30 16 0.35 intronic rs7255640 ARRDC2 AU NM_001025604 exon8 c.11598-104A>G 0.311102 0.2837 Uncertain 19_18123738_T->C 19 18123738 18123738 T C snp 516.77 0/1 99 85 58 27 0.32 exonic rs7259041 ARRDC2 AU nonsynonymous SNV NM_001025604 exon8 c.T1172C p.L391P 0.311102 0.2837 0.305705 0.2483 0.2652 0.92 T 0.004 P -0.926 T 0.0 T 0.0 T Pathogenic 19_18170265_-->C 19 18170265 18170265 - C indel 782.73 1/1 69 23 0 23 1.0 UTR3 rs3833286 IL12RB1 AR 0.458466 0.3978 Uncertain 19_18170384_G->A 19 18170384 18170384 G A snp 3091.77 1/1 99 109 0 109 1.0 UTR3 rs3746190 IL12RB1 AR 0.186302 0.1379 0.284854 0.3090 0.1253 Uncertain 19_18170657_C->A 19 18170657 18170657 C A snp 1731.77 1/1 99 52 1 51 0.98 intronic rs12461312 IL12RB1 AR NM_001290024 exon2 c.286-46C>A 0.178514 0.1329 0.274979 0.3234 0.1544 Uncertain 19_18170680_G->A 19 18170680 18170680 G A snp 1973.77 1/1 99 65 0 65 1.0 intronic rs17882555 IL12RB1 AR NM_001290024 exon2 c.286-23G>A 0.180511 0.1329 0.285702 0.3743 0.2177 Uncertain 19_18170962_C->T 19 18170962 18170962 C T snp 969.77 1/1 72 27 0 27 1.0 intronic rs1870063 IL12RB1 AR NM_001290023 exon2 c.485+67C>T 0.180511 0.1329 Uncertain 19_18171886_A->G 19 18171886 18171886 A G snp 5297.77 1/1 99 210 0 210 1.0 intronic rs383483 IL12RB1 AR NM_001290023 exon3 c.1521-45A>G 0.420927 0.38 0.518873 0.4978 0.4170 Uncertain 19_18172058_G->T 19 18172058 18172058 G T snp 44.74 1/1 6 2 0 2 1.0 intronic IL12RB1 AR NM_001290023 exon3 c.1597+51G>T Uncertain 19_18172841_A->G 19 18172841 18172841 A G snp 1062.77 1/1 78 32 0 32 1.0 intronic rs17878533 IL12RB1 AR NM_001290023 exon4 c.2580-149A>G 0.178315 0.1349 Uncertain 19_18174948_C->T 19 18174948 18174948 C T snp 208.84 1/1 18 7 0 7 1.0 intronic rs11304355 IL12RB1 AR NM_001290023 exon5 c.4410+128C>T Uncertain 19_18180265_G->A 19 18180265 18180265 G A snp 44.74 1/1 6 2 0 2 1.0 intronic rs2305741 IL12RB1 AR NM_001290023 exon8 c.9945-90G>A 0.0998403 0.1339 Uncertain 19_18180413_C->G 19 18180413 18180413 C G snp 2861.77 1/1 99 104 0 104 1.0 exonic rs401502 IL12RB1 AR nonsynonymous SNV NM_005535 exon10 c.G1132C p.G378R 0.251597 0.376 0.272639 0.2841 0.3557 0.61 T 0.0 P -1.097 T 0.005 T 0.008 T ID=CM030471;DIS=Tuberculosis, susceptibility to, association with;TAG=DP;PUB=12596048 DP Pathogenic 19_18180451_A->G 19 18180451 18180451 A G snp 3943.77 1/1 99 148 0 148 1.0 exonic rs375947 IL12RB1 AR nonsynonymous SNV NM_005535 exon10 c.T1094C p.M365T 0.26857 0.376 0.293406 0.2894 0.3566 0.83 T 0.0 P -1.069 T 0.0 T 0.0 T ID=CM030470;DIS=Tuberculosis, susceptibility to, association with;TAG=DP;PUB=12596048 DP Pathogenic 19_18180646_G->A 19 18180646 18180646 G A snp 1512.77 1/1 99 42 0 42 1.0 intronic rs391410 IL12RB1 AR NM_001290023 exon8 c.10113+123G>A 0.251398 0.376 Uncertain 19_18186575_G->A 19 18186575 18186575 G A snp 3583.77 1/1 99 129 0 129 1.0 exonic rs17852635 IL12RB1 AR synonymous SNV NM_005535 exon7 c.C684T p.P228P 0.229832 0.373 0.254037 0.2772 0.3540 Uncertain 19_18186618_T->C 19 18186618 18186618 T C snp 4495.77 1/1 99 167 0 167 1.0 exonic rs11575934 IL12RB1 AR nonsynonymous SNV NM_005535 exon7 c.A641G p.Q214R 0.229433 0.373 0.253191 0.2771 0.3546 1 T 0.0 P -1.038 T 0.0 T 0.0 T ID=CM984025;DIS=Mycobacterial infection;TAG=DM?;PUB=9603732 DM? Pathogenic 19_18186752_T->C 19 18186752 18186752 T C snp 4242.77 1/1 99 155 0 155 1.0 intronic rs429774 IL12RB1 AR NM_001290023 exon11 c.16268+74T>C 0.252596 0.373 Uncertain 19_18186824_-->T 19 18186824 18186824 - T indel 1099.73 0/1 99 62 28 34 0.55 intronic rs17885316 IL12RB1 AR NM_001290023 exon11 c.16268+146insT 0.130591 0.2857 Uncertain 19_18186906_G->A 19 18186906 18186906 G A snp 307.78 1/1 24 8 0 8 1.0 intronic rs17879486 IL12RB1 AR NM_001290023 exon12 c.16696-200G>A 0.227037 0.373 Uncertain 19_18191441_A->C 19 18191441 18191441 A C snp 224.84 1/1 18 6 0 6 1.0 intronic rs2305742 IL12RB1 AR NM_001290023 exon14 c.21231-200A>C 0.0886581 0.0853 Uncertain 19_18191664_C->G 19 18191664 18191664 C G snp 2098.77 0/1 99 170 80 90 0.53 exonic rs11086087 IL12RB1 AR synonymous SNV NM_005535 exon4 c.G387C p.V129V 0.129992 0.2857 0.094956 0.1185 0.2724 Uncertain 19_18193191_G->A 19 18193191 18193191 G A snp 834.77 0/1 99 78 44 34 0.44 intronic rs2305743 IL12RB1 AR NM_001290023 exon15 c.22664+117G>A 0.146765 0.1052 Uncertain 19_18197635_G->A 19 18197635 18197635 G A snp 2006.77 0/1 99 149 56 93 0.62 UTR5 rs436857 IL12RB1 AR 0.127596 0.1022 0.175397 0.1996 0.1148 Uncertain 19_18197744_T->A 19 18197744 18197744 T A snp 1350.77 0/1 99 101 46 55 0.54 UTR5 rs393548 IL12RB1 AR 0.181909 0.1498 0.2261 0.1817 ID=CR054259;DIS=Atopic dermatitis, association with;TAG=DP;PUB=16159888 DP Uncertain 19_18218444_A->G 19 18218444 18218444 A G snp 4059.77 1/1 99 141 0 141 1.0 intronic rs62123561 MAST3 AU NM_015016 exon2 c.9826+16A>G 0.320687 0.3264 0.375514 0.3957 0.3176 Uncertain 19_18218610_A->T 19 18218610 18218610 A T snp 2204.77 1/1 99 69 0 69 1.0 intronic rs67234314 MAST3 AU NM_015016 exon2 c.9826+182A>T 0.176917 0.1131 Uncertain 19_18232778_A->G 19 18232778 18232778 A G snp 2095.77 1/1 99 75 0 75 1.0 intronic rs273483 MAST3 AU NM_015016 exon4 c.24130+46A>G 0.998003 1 0.991938 0.9915 0.9998 Uncertain 19_18233279_C->G 19 18233279 18233279 C G snp 615.77 1/1 48 17 0 17 1.0 intronic rs273486 MAST3 AU NM_015016 exon5 c.24880-203C>G 0.941893 0.9623 Uncertain 19_18234588_C->T 19 18234588 18234588 C T snp 141.03 1/1 12 4 0 4 1.0 intronic rs11666281 MAST3 AU NM_015016 exon7 c.25863+123C>T 0.166534 0.1071 Uncertain 19_18235352_T->G 19 18235352 18235352 T G snp 2057.77 1/1 99 55 0 55 1.0 intronic rs123202 MAST3 AU NM_015016 exon10 c.26849-99T>G 0.938498 0.9623 Uncertain 19_18235424_T->C 19 18235424 18235424 T C snp 4371.77 1/1 99 156 0 156 1.0 intronic rs123203 MAST3 AU NM_015016 exon10 c.26849-27T>C 0.961462 0.9623 0.964181 0.9527 0.9663 Uncertain 19_18242675_C->T 19 18242675 18242675 C T snp 754.77 1/1 57 21 0 21 1.0 intronic rs273497 MAST3 AU NM_015016 exon14 c.34116-43C>T 0.922125 0.9613 0.937320 0.9300 0.9716 Uncertain 19_18245813_T->C 19 18245813 18245813 T C snp 2214.77 1/1 99 81 0 81 1.0 intronic rs273499 MAST3 AU NM_015016 exon16 c.37190+21T>C 0.939497 0.9623 0.937096 0.9391 0.9651 Uncertain 19_18248146_T->C 19 18248146 18248146 T C snp 7887.77 1/1 99 249 1 248 1.0 exonic rs541225 MAST3 AU synonymous SNV NM_015016 exon18 c.T1983C p.A661A 0.939497 0.9613 0.936745 0.9387 0.9653 Uncertain 19_18250166_G->A 19 18250166 18250166 G A snp 94.28 1/1 9 3 0 3 1.0 intronic rs513118 MAST3 AU NM_015016 exon19 c.41332+232G>A 0.935903 0.9623 Uncertain 19_18252829_A->G 19 18252829 18252829 A G snp 1704.77 1/1 99 60 0 60 1.0 splicing rs613339 MAST3 AU NM_015016 exon20 c.44223+4A>G 0.939896 0.9623 0.937832 0.9398 0.9652 Pathogenic 19_18254937_A->G 19 18254937 18254937 A G snp 1064.77 0/1 99 74 31 43 0.58 intronic rs141402913 MAST3 AU NM_015016 exon21 c.46215+120A>G 0.0117812 0.0397 Uncertain 19_18256383_C->T 19 18256383 18256383 C T snp 40.77 0/1 33 4 1 3 0.75 intronic rs535460614 MAST3 AU NM_015016 exon24 c.47950-169C>T 0.000199681 0.001 Uncertain 19_18256419_C->- 19 18256419 18256419 C - indel 420.73 1/1 36 12 0 12 1.0 intronic rs11305984 MAST3 AU NM_015016 exon24 c.47950-133delC 0.936302 0.9623 Uncertain 19_18257875_C->T 19 18257875 18257875 C T snp 261.8 1/1 21 8 0 8 1.0 intronic rs273279 MAST3 AU NM_015016 exon25 c.49225+48C>T 0.83127 0.8413 0.824111 0.8299 0.8782 Uncertain 19_18258459_A->G 19 18258459 18258459 A G snp 430.77 1/1 33 14 0 14 1.0 intronic rs1566030 MAST3 AU NM_015016 exon26 c.49832+25A>G 0.955671 0.9633 0.963132 0.9496 0.9587 Uncertain 19_18272190_A->C 19 18272190 18272190 A C snp 88.28 1/1 9 3 0 3 1.0 exonic rs2241088 PIK3R2 AD nonsynonymous SNV NM_005027 exon6 c.A700C p.S234R 0.923922 0.9117 0.8961 0.9286 0.3 T 0.0 P -1.064 T 0.0 T 0.0 T Pathogenic 19_18273047_T->C 19 18273047 18273047 T C snp 2134.77 1/1 99 70 0 70 1.0 exonic rs1011320 PIK3R2 AD nonsynonymous SNV NM_005027 exon8 c.T937C p.S313P 0.953474 0.9633 0.955154 0.9501 0.9668 0.56 T 0.0 P -1.020 T 0.0 T 0.0 T Pathogenic 19_18273410_A->G 19 18273410 18273410 A G snp 436.77 1/1 33 13 0 13 1.0 intronic rs2006885 PIK3R2 AD NM_005027 exon9 c.6627+94A>G 0.873403 0.9117 Uncertain 19_18276856_T->C 19 18276856 18276856 T C snp 93.28 1/1 9 3 0 3 1.0 intronic rs4808755 PIK3R2 AD NM_005027 exon12 c.10280-113T>C 0.873602 0.9117 Uncertain 19_18277206_G->A 19 18277206 18277206 G A snp 71.77 0/1 99 10 7 3 0.3 intronic rs3730179 PIK3R2 AD NM_005027 exon12 c.10423+94G>A 0.235024 0.1865 Uncertain 19_18279638_T->C 19 18279638 18279638 T C snp 6107.77 1/1 99 221 0 221 1.0 exonic rs273269 PIK3R2 AD synonymous SNV NM_005027 exon15 c.T1911C p.S637S 0.86242 0.9365 0.851069 0.8800 0.9309 Uncertain 19_18279816_A->G 19 18279816 18279816 A G snp 1126.77 0/1 99 92 48 44 0.48 intronic rs3746187 PIK3R2 AD NM_005027 exon16 c.13207-80A>G 0.237819 0.1865 Uncertain 19_18285944_G->A 19 18285944 18285944 G A snp 2820.77 0/1 99 248 121 127 0.51 exonic rs11554159 IFI30 AU nonsynonymous SNV NM_006332 exon2 c.G227A p.R76Q 0.181709 0.0655 0.244179 0.2554 0.0946 0.15 T 1.000 P -1.089 T 0.997 D 0.757 D ID=CM120620;DIS=Hyperglycaemia in obese patients, reduced risk, association with;TAG=DP;PUB=21701784 DP Pathogenic 19_18286546_T->A 19 18286546 18286546 T A snp 289.77 0/1 99 39 24 15 0.38 intronic rs200373 IFI30 AU NM_006332 exon4 c.1856+39T>A 0.416134 0.2103 0.523492 0.4786 0.2494 Uncertain 19_18288069_A->G 19 18288069 18288069 A G snp 2614.77 0/1 99 207 101 106 0.51 exonic rs7125 IFI30 AU synonymous SNV NM_006332 exon5 c.A603G p.P201P 0.425319 0.2103 0.541784 0.5280 0.2998 Uncertain 19_18304700_A->G 19 18304700 18304700 A G snp 1378.77 0/1 99 147 84 63 0.43 exonic rs874628 MPV17L2 AU nonsynonymous SNV NM_032683 exon2 c.A214G p.M72V 0.17472 0.0655 0.247799 0.2345 0.0772 1 T 0.938 P -0.903 T 0.799 T 0.587 P Pathogenic 19_18305578_G->C 19 18305578 18305578 G C snp 202.77 0/1 99 20 9 11 0.55 intronic rs16982263 MPV17L2 AU NM_032683 exon3 c.1495-8G>C 0.465056 0.1577 0.653733 0.6059 0.2164 Uncertain 19_18305824_C->T 19 18305824 18305824 C T snp 2992.77 0/1 99 250 116 134 0.54 exonic rs2271881 MPV17L2 AU synonymous SNV NM_032683 exon4 c.C492T p.P164P 0.244808 0.0685 0.323740 0.3024 0.0806 Uncertain 19_18307108_C->T 19 18307108 18307108 C T snp 2650.77 0/1 99 249 136 113 0.45 UTR3 rs1044821 MPV17L2 AU 0.201677 0.0675 0.2710 0.0893 Uncertain 19_18322095_G->A 19 18322095 18322095 G A snp 576.77 0/1 99 44 22 22 0.5 intronic rs12611244 PDE4C AU NM_001098819 exon1 c.348+9G>A 0.552316 0.6806 0.601569 0.6559 0.7068 Uncertain 19_18344274_C->- 19 18344274 18344274 C - indel 3507.73 1/1 99 120 0 120 1.0 intronic rs35421958 PDE4C AU NM_000923 exon15 c.22472+64delC 0.7988 0.8457 Uncertain 19_18358923_C->T 19 18358923 18358923 C T snp 1121.77 0/1 99 137 81 56 0.41 intronic rs78052308 PDE4C AU NM_000923 exon16 c.37242-57C>T 0.0061901 0.0069 Uncertain 19_18368810_G->T 19 18368810 18368810 G T snp 2681.77 0/1 99 200 87 113 0.56 exonic rs999813 KIAA1683 AU nonsynonymous SNV NM_001145304 exon4 c.C3284A p.P1095H 0.551118 0.5536 0.528809 0.4983 0.5684 0.17 T 0.0 P -1.054 T 0.0 T 0.001 T Pathogenic 19_18369120_G->A 19 18369120 18369120 G A snp 1301.77 0/1 99 112 62 50 0.45 intronic rs2891654 KIAA1683 AU NM_001145304 exon1 c.927+204G>A 0.410343 0.5357 0.3804 0.6261 0.0 P -0.908 T Uncertain 19_18375608_G->A 19 18375608 18375608 G A snp 3445.77 0/1 99 250 118 132 0.53 exonic rs8102923 KIAA1683 AU synonymous SNV NM_001145304 exon3 c.C2742T p.A914A 0.300319 0.3165 0.243101 0.2488 0.3629 Uncertain 19_18375815_G->A 19 18375815 18375815 G A snp 3239.77 0/1 99 245 118 127 0.52 exonic rs8103177 KIAA1683 AU synonymous SNV NM_001145304 exon3 c.C2535T p.N845N 0.30012 0.3165 0.250538 0.2216 0.3253 Uncertain 19_18375846_G->A 19 18375846 18375846 G A snp 2993.77 0/1 99 250 133 117 0.47 exonic rs2277921 KIAA1683 AU nonsynonymous SNV NM_001145304 exon3 c.C2504T p.P835L 0.30012 0.3165 0.250807 0.2219 0.3253 0.37 T 0.0 P -1.012 T 0.0 T 0.0 T Pathogenic 19_18375882_G->C 19 18375882 18375882 G C snp 1968.77 0/1 99 226 138 88 0.39 exonic rs12608777 KIAA1683 AU nonsynonymous SNV NM_001145304 exon3 c.C2468G p.P823R 0.151957 0.3036 0.104231 0.1594 0.3186 0.29 T 0.0 P -0.923 T 0.994 D 0.88 D Pathogenic 19_18376407_T->A 19 18376407 18376407 T A snp 2782.77 0/1 99 226 106 120 0.53 exonic rs8110972 KIAA1683 AU nonsynonymous SNV NM_001145304 exon3 c.A1943T p.Y648F 0.544129 0.5516 0.509150 0.4796 0.5604 0.63 T 0.0 P -0.955 T 0.002 T 0.003 T Pathogenic 19_18376517_C->T 19 18376517 18376517 C T snp 2552.77 0/1 99 213 111 102 0.48 exonic rs61740752 KIAA1683 AU synonymous SNV NM_001145304 exon3 c.G1833A p.Q611Q 0.151957 0.3036 0.103644 0.1568 0.3144 Uncertain 19_18376522_T->G 19 18376522 18376522 T G snp 2396.77 0/1 99 213 113 100 0.47 exonic rs2277922 KIAA1683 AU nonsynonymous SNV NM_001145304 exon3 c.A1828C p.T610P 0.561102 0.5516 0.532523 0.4931 0.5591 1 T 0.0 P -0.967 T 0.0 T 0.0 T Pathogenic 19_18377274_A->G 19 18377274 18377274 A G snp 1312.77 0/1 99 132 76 56 0.42 exonic rs3746186 KIAA1683 AU nonsynonymous SNV NM_001145304 exon3 c.T1076C p.M359T 0.54373 0.5496 0.509611 0.4862 0.5612 0.37 T 0.0 P -1.011 T 0.0 T 0.0 T Pathogenic 19_18377496_C->G 19 18377496 18377496 C G snp 3204.83 0/1 99 249 125 124 0.5 exonic rs8104533 KIAA1683 AU nonsynonymous SNV NM_001145304 exon3 c.G854C p.S285T 0.544529 0.5516 0.509150 0.4793 0.5604 1 T 0.0 P -1.013 T 0.0 T 0.0 T Pathogenic 19_18377647_G->C 19 18377647 18377647 G C snp 1908.77 0/1 99 143 69 74 0.52 exonic rs8103906 KIAA1683 AU nonsynonymous SNV NM_001145304 exon3 c.C703G p.L235V 0.561302 0.5516 0.531293 0.4939 0.5596 1 T 0.0 P -0.983 T 0.0 T 0.0 T Pathogenic 19_18377761_A->G 19 18377761 18377761 A G snp 1708.77 0/1 99 145 82 63 0.43 exonic rs12609001 KIAA1683 AU nonsynonymous SNV NM_001145304 exon3 c.T589C p.C197R 0.152356 0.3036 0.103586 0.1595 0.3169 0.66 T 0.0 P -0.921 T 0.689 T 0.128 P Pathogenic 19_18378219_A->G 19 18378219 18378219 A G snp 2357.77 0/1 99 197 100 97 0.49 exonic rs1469023 KIAA1683 AU nonsynonymous SNV NM_001145304 exon3 c.T131C p.L44P 0.561502 0.5516 0.533451 0.5020 0.5609 0.09 T 0.000 P -1.059 T 0.0 T 0.0 T Pathogenic 19_18391171_C->T 19 18391171 18391171 C T snp 404.77 0/1 99 28 12 16 0.57 UTR3 rs7249 JUND AU 0.436502 0.378 Uncertain 19_18392873_C->A 19 18392873 18392873 C A snp 305.77 0/1 99 31 14 17 0.55 upstream rs7247222 JUND AU 0.69369 0.8353 0.6789 0.9722 Uncertain 19_18420704_C->A 19 18420704 18420704 C A snp 2630.77 1/1 99 95 0 95 1.0 intronic rs2227270 LSM4 AU NM_012321 exon2 c.2398+33C>A 0.502596 0.7629 0.362756 0.5222 0.7375 Uncertain 19_18423402_T->C 19 18423402 18423402 T C snp 6553.77 1/1 99 241 0 241 1.0 intronic rs2232968 LSM4 AU NM_012321 exon3 c.5140-11T>C 0.773762 0.8175 0.752345 0.7795 0.8008 Uncertain 19_18426950_T->C 19 18426950 18426950 T C snp 1370.77 1/1 99 47 0 47 1.0 intronic rs2232965 LSM4 AU NM_012321 exon4 c.8602+75T>C 0.840056 0.8175 0.819317 0.8138 0.8164 Uncertain 19_18451457_A->G 19 18451457 18451457 A G snp 1006.77 0/1 99 80 40 40 0.5 UTR5 rs2302946 PGPEP1 AU 0.00539137 0.0268 0.0023 0.0363 Uncertain 19_18451661_C->T 19 18451661 18451661 C T snp 421.77 0/1 99 24 9 15 0.63 intronic rs4808784 PGPEP1 AU NM_017712 exon1 c.34+136C>T 0.201877 0.4028 Uncertain 19_18474542_C->T 19 18474542 18474542 C T snp 32.77 0/1 61 5 3 2 0.4 UTR3 rs3746185 PGPEP1 AU 0.111422 0.37 Uncertain 19_18497024_G->C 19 18497024 18497024 G C snp 483.77 0/1 99 39 20 19 0.49 exonic rs1059519 GDF15 AU nonsynonymous SNV NM_004864 exon1 c.G25C p.V9L 0.712061 0.6835 0.702522 0.6874 0.6600 0.36 T 0.0 P -0.957 T 0.0 T 0.0 T Pathogenic 19_18497141_T->A 19 18497141 18497141 T A snp 1730.77 0/1 99 150 75 75 0.5 exonic rs1059369 GDF15 AU nonsynonymous SNV NM_004864 exon1 c.T142A p.S48T 0.26857 0.4236 0.219283 0.2643 0.3829 0.68 T 0.0 P -1.025 T 0.675 T 0.242 P Pathogenic 19_18499238_G->T 19 18499238 18499238 G T snp 1401.77 0/1 99 152 90 62 0.41 exonic rs1804826 GDF15 AU synonymous SNV NM_004864 exon2 c.G420T p.P140P 0.264177 0.4276 0.202119 0.2708 0.3832 Uncertain 19_18499780_A->G 19 18499780 18499780 A G snp 1502.77 1/1 99 48 0 48 1.0 UTR3 rs1227733 GDF15 AU 0.828474 0.8522 0.841246 0.8187 0.8369 Uncertain 19_18499784_C->G 19 18499784 18499784 C G snp 690.77 0/1 99 43 16 27 0.63 UTR3 rs1055150 GDF15 AU 0.572883 0.6786 0.476711 0.5391 0.6534 Uncertain 19_18499815_G->C 19 18499815 18499815 G C snp 127.77 0/1 99 25 18 7 0.28 UTR3 rs1054564 GDF15 AU 0.101038 0.1657 Uncertain 19_18499858_T->C 19 18499858 18499858 T C snp 124.77 0/1 99 9 3 6 0.67 UTR3 rs1054221 GDF15 AU 0.101038 0.1657 Uncertain 19_18502835_G->A 19 18502835 18502835 G A snp 642.77 0/1 99 79 46 33 0.42 exonic rs6512265 LRRC25 AU nonsynonymous SNV NM_145256 exon2 c.C880T p.P294S 0.722045 0.6746 0.718668 0.6919 0.6533 0.08 T 0.0 P -1.046 T 0.027 T 0.006 T Pathogenic 19_18503093_T->G 19 18503093 18503093 T G snp 272.77 0/1 99 15 5 10 0.67 intronic rs6512266 LRRC25 AU NM_145256 exon1 c.139+158T>G 0.724241 0.6905 Uncertain 19_18541579_-->A 19 18541579 18541579 - A indel 3886.73 1/1 99 88 0 88 1.0 intronic rs11395316 SSBP4 AU NM_032627 exon5 c.11192-71insA 0.434704 0.506 Uncertain 19_18544498_A->C 19 18544498 18544498 A C snp 478.77 1/1 36 14 0 14 1.0 intronic rs2544723 SSBP4 AU NM_032627 exon17 c.14061-21A>C 0.9985 1 Uncertain 19_18544501_C->T 19 18544501 18544501 C T snp 519.77 1/1 39 15 0 15 1.0 intronic rs62122438 SSBP4 AU NM_032627 exon17 c.14061-18C>T 1 1 0.9986 1 Uncertain 19_18544505_G->C 19 18544505 18544505 G C snp 522.77 1/1 39 16 0 16 1.0 intronic rs2544724 SSBP4 AU NM_032627 exon17 c.14061-14G>C 1 1 0.9988 1 Uncertain 19_18544677_-->C 19 18544677 18544677 - C indel 2252.73 1/1 99 54 0 54 1.0 intronic rs78783575 SSBP4 AU NM_032627 exon17 c.14169+50insC 0.984444 0.9993 1 Uncertain 19_18650278_T->C 19 18650278 18650278 T C snp 2912.77 1/1 99 99 0 99 1.0 intronic rs7247733 FKBP8 AU NM_012181 exon6 c.7291+9T>C 0.986022 1 0.965401 0.9613 0.9999 Uncertain 19_18650692_C->T 19 18650692 18650692 C T snp 227.84 1/1 18 8 0 8 1.0 intronic rs11086113 FKBP8 AU NM_012181 exon7 c.7552+162C>T 0.285942 0.4831 Uncertain 19_18675612_T->G 19 18675612 18675612 T G snp 2133.77 0/1 99 167 87 80 0.48 intronic rs62137086 KXD1 AU NM_001171949 exon3 c.2812-66T>G 0.459065 0.6895 Uncertain 19_18675854_-->GGC 19 18675854 18675854 - GGC indel 2781.73 0/1 99 110 60 50 0.45 intronic rs10692700 KXD1 AU NM_001171949 exon3 c.2965+23insGGC 0.649361 0.6915 0.646086 0.5996 0.6706 Uncertain 19_18679155_C->T 19 18679155 18679155 C T snp 953.77 0/1 99 81 43 38 0.47 intronic rs1468475 KXD1 AU NM_001171949 exon5 c.6345-56C>T 0.481629 0.6905 Uncertain 19_18679379_C->G 19 18679379 18679379 C G snp 2144.77 0/1 99 171 76 95 0.56 exonic rs7648 KXD1 AU nonsynonymous SNV NM_024069 exon5 c.C469G p.P157A 0.46246 0.6895 0.440950 0.5288 0.6727 0.7 T 0.0 P -0.958 T 0.131 T 0.039 T Pathogenic 19_18684563_C->T 19 18684563 18684563 C T snp 1303.77 0/1 99 141 80 61 0.43 splicing rs2302055 UBA52 AU NM_003333 exon3 c.448+5C>T 0.459665 0.6895 0.439028 0.5318 0.6721 Pathogenic 19_18685964_G->T 19 18685964 18685964 G T snp 902.77 0/1 99 70 32 38 0.54 UTR3 rs6554 UBA52 AU 0.701278 0.6915 0.702137 0.6163 0.6727 Uncertain 19_18707878_A->C 19 18707878 18707878 A C snp 2229.77 1/1 99 67 0 67 1.0 intronic rs7247346 CRLF1 AR NM_004750 exon5 c.3484+19A>C 0.720647 0.6895 0.744055 0.6668 0.6754 Uncertain 19_18710535_G->A 19 18710535 18710535 G A snp 1537.77 0/1 99 110 48 62 0.56 exonic rs2238647 CRLF1 AR synonymous SNV NM_004750 exon2 c.C237T p.N79N 0.267772 0.5258 0.161017 0.2631 0.5296 Uncertain 19_18710676_C->T 19 18710676 18710676 C T snp 978.77 0/1 99 73 33 40 0.55 intronic rs368296750 CRLF1 AR NM_004750 exon8 c.6281+20C>T 0.000798722 0.003 0.000539 0.0003 0.0006 Uncertain 19_18717390_AGC->- 19 18717390 18717392 AGC - indel 257.73 0/1 99 11 5 6 0.55 exonic rs137853925 CRLF1 AR nonframeshift deletion NM_004750 exon1 c.75_77del p.25_26del 0.29373 0.5228 0.108254 0 . CLINSIG=non-pathogenic;CLNDBN=Cold-induced_sweating_syndrome_1;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000020620.1;CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet;CLNDSDBID=NBK52917:C1848947:272430:ORPHA157820 ID=COSM1611839;OCCURENCE=1(liver) Uncertain 19_18726856_T->C 19 18726856 18726856 T C snp 2383.77 1/1 99 89 0 89 1.0 exonic rs709679 TMEM59L AU synonymous SNV NM_012109 exon4 c.T480C p.L160L 0.509385 0.6508 0.475704 0.4731 0.6465 Uncertain 19_18775077_C->T 19 18775077 18775077 C T snp 1354.77 0/1 99 115 54 61 0.53 exonic rs1076235 KLHL26 AU synonymous SNV NM_018316 exon2 c.C90T p.A30A 0.437899 0.4365 0.356528 0.3591 0.4180 Uncertain 19_18778445_C->G 19 18778445 18778445 C G snp 1501.77 0/1 99 121 56 65 0.54 intronic rs10421503 KLHL26 AU NM_018316 exon3 c.30609-28C>G 0.73143 0.6736 0.717716 0.6573 0.6754 Uncertain 19_18794482_A->T 19 18794482 18794482 A T snp 1661.77 0/1 99 167 88 79 0.47 UTR5 rs546041769 CRTC1 AU 0.000998403 0.005 0.0001 0.0019 Uncertain 19_18853553_T->C 19 18853553 18853553 T C snp 263.8 1/1 21 8 0 8 1.0 intronic rs2075017 CRTC1 AU NM_015321 exon2 c.59207-166T>C 0.248403 0.2946 Uncertain 19_18857939_A->C 19 18857939 18857939 A C snp 89.77 0/1 99 64 54 10 0.16 intronic rs560795263 CRTC1 AU NM_015321 exon4 c.63412+15A>C 0.445088 0.4038 0.0294 0.0319 Uncertain 19_18857939_-->C 19 18857939 18857939 - C indel 640.73 0/1 92 64 8 56 0.88 intronic rs397767780 CRTC1 AU NM_015321 exon4 c.63412+15insC 0.0949 0.0749 Uncertain 19_18870766_G->A 19 18870766 18870766 G A snp 198.77 0/1 99 37 27 10 0.27 intronic rs114849925 CRTC1 AU NM_015321 exon8 c.76305-51G>A Uncertain 19_18876309_A->G 19 18876309 18876309 A G snp 1177.77 0/1 99 85 37 48 0.56 exonic rs3746266 CRTC1 AU nonsynonymous SNV NM_015321 exon9 c.A982G p.T328A 0.126797 0.1726 0.130709 0.1452 0.1890 0.19 T 0.996 P -1.061 T 0.979 D 0.654 D Pathogenic 19_18886367_A->C 19 18886367 18886367 A C snp 140.77 0/1 92 8 3 5 0.63 intronic rs12611313 CRTC1 AU NM_015321 exon13 c.91938-83A>C 0.222045 0.1796 Uncertain 19_18886431_T->C 19 18886431 18886431 T C snp 746.77 0/1 99 46 15 31 0.67 intronic rs12609934 CRTC1 AU NM_015321 exon13 c.91938-19T>C 0.221645 0.1776 0.218610 0.2262 0.2553 Uncertain 19_18893811_A->G 19 18893811 18893811 A G snp 1131.77 0/1 99 125 76 49 0.39 intronic rs28494505 COMP AD NM_000095 exon1 c.47+40A>G 0.222244 0.1806 0.226818 0.1708 0.1881 Uncertain 19_18894903_G->A 19 18894903 18894903 G A snp 180.77 0/1 99 10 4 6 0.6 intronic rs56090467 COMP AD NM_000095 exon3 c.1276-97G>A 0.191893 0.1796 Uncertain 19_18897526_-->G 19 18897526 18897526 - G indel 1917.73 1/1 99 50 0 50 1.0 intronic rs397774965 COMP AD NM_000095 exon9 c.3736+66insG Uncertain 19_18898675_C->T 19 18898675 18898675 C T snp 44.74 1/1 6 2 0 2 1.0 intronic rs8105006 COMP AD NM_000095 exon10 c.4735+216C>T Uncertain 19_18942888_C->G 19 18942888 18942888 C G snp 1000.77 1/1 75 29 0 29 1.0 UTR5 rs4808161 UPF1 AU 0.897764 0.756 Uncertain 19_18974200_A->G 19 18974200 18974200 A G snp 2526.77 1/1 99 92 0 92 1.0 intronic rs2238658 UPF1 AU NM_002911 exon19 c.31228-46A>G 0.47484 0.4812 0.419499 0.4395 0.4749 Uncertain 19_18979324_A->C 19 18979324 18979324 A C snp 680.77 1/1 51 20 0 20 1.0 downstream rs11673194 CERS1 AR 0.879193 0.755 Uncertain 19_18980213_A->G 19 18980213 18980213 A G snp 192.9 1/1 15 10 0 10 1.0 intronic rs4808864 CERS1 AR 1 1 0.999854 0.9998 1 Uncertain 19_18989859_G->A 19 18989859 18989859 G A snp 2600.77 0/1 99 246 127 119 0.48 intronic rs2075762 CERS1 AR NM_021267 exon3 c.8463+11G>A 0.170327 0.379 0.092767 0.1568 0.3809 CLINSIG=non-pathogenic;CLNDBN=not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000125217.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Uncertain 19_18990982_C->T 19 18990982 18990982 C T snp 96.28 1/1 9 3 0 3 1.0 intronic rs2018392 CERS1 AR NM_021267 exon5 c.9697-100C>T 0.862819 0.755 Uncertain 19_19040312_G->C 19 19040312 19040312 G C snp 1786.77 1/1 99 67 0 67 1.0 exonic rs1059240 HOMER3 AU nonsynonymous SNV NM_001145724 exon8 c.C918G p.S306R 1 1 1 1 0.2 T 0.000 P -1.055 T 0.0 T 0.0 T Pathogenic 19_19105773_G->A 19 19105773 19105773 G A snp 1602.77 0/1 99 128 64 64 0.5 intronic rs3180770 SUGP2 AU NM_014884 exon3 c.778-179G>A 0.761981 0.881 0.7835 0.8235 Uncertain 19_19121232_T->C 19 19121232 19121232 T C snp 582.77 0/1 99 50 28 22 0.44 intronic rs76496920 SUGP2 AU NM_014884 exon7 c.15977+81T>C 0.0117812 0.0565 Uncertain 19_19135319_A->G 19 19135319 19135319 A G snp 361.77 0/1 99 45 30 15 0.33 intronic rs6511010 SUGP2 AU NM_014884 exon9 c.30253-108A>G 0.751198 0.881 Uncertain 19_19136541_C->T 19 19136541 19136541 C T snp 3097.77 0/1 99 250 129 121 0.48 exonic rs4808907 SUGP2 AU nonsynonymous SNV NM_001017392 exon3 c.G616A p.G206S 0.78774 0.881 0.724127 0.7552 0.8863 0.59 T 0.0 P -1.069 T 0.001 T 0.001 T Pathogenic 19_19145193_G->A 19 19145193 19145193 G A snp 284.77 0/1 99 34 21 13 0.38 intronic rs2269806 ARMC6 AU NM_001199196 exon2 c.29+146G>A 0.854433 0.881 Uncertain 19_19150183_C->T 19 19150183 19150183 C T snp 495.77 0/1 99 44 25 19 0.43 intronic rs12979565 ARMC6 AU NM_001199196 exon3 c.8501-3336C>T 0.701877 0.881 0.7296 0.8939 0 D 0.0 P Uncertain 19_19151692_T->C 19 19151692 19151692 T C snp 1278.77 0/1 99 148 86 62 0.42 intronic rs8104799 ARMC6 AU NM_001199196 exon3 c.8501-1827T>C 0.798922 0.881 Uncertain 19_19153801_-->C 19 19153801 19153801 - C indel 396.73 0/1 99 19 6 13 0.68 intronic rs3214143 ARMC6 AU NM_033415 exon2 c.121+115insC 0.852636 0.881 Uncertain 19_19168183_C->T 19 19168183 19168183 C T snp 178.77 0/1 99 13 5 8 0.62 intronic rs7258637 ARMC6 AU NM_033415 exon8 c.14659-41C>T 0.73722 0.881 0.686376 0.7418 0.8874 Uncertain 19_19207068_A->C 19 19207068 19207068 A C snp 48.77 0/1 77 30 22 8 0.27 intronic SLC25A42 AU NM_178526 exon2 c.81+54A>C Uncertain 19_19215612_-->A 19 19215612 19215612 - A indel 861.73 1/1 60 20 0 20 1.0 intronic rs56247515 SLC25A42 AU NM_178526 exon4 c.8788-109insA 0.816294 0.9008 Uncertain 19_19216613_T->C 19 19216613 19216613 T C snp 224.84 1/1 18 6 0 6 1.0 intronic rs4808920 SLC25A42 AU NM_178526 exon5 c.9603+77T>C 1 1 Uncertain 19_19230868_A->G 19 19230868 19230868 A G snp 484.77 0/1 99 47 25 22 0.47 exonic rs756791 TMEM161A AU synonymous SNV NM_001256766 exon10 c.T1002C p.A334A 0.877596 0.9206 0.845038 0.8401 0.9125 Uncertain 19_19243175_C->T 19 19243175 19243175 C T snp 1972.77 1/1 99 76 0 76 1.0 exonic rs964132 TMEM161A AU synonymous SNV NM_017814 exon5 c.G429A p.T143T 0.109225 0.3244 0.025065 0.0655 0.3444 Uncertain 19_19243843_T->C 19 19243843 19243843 T C snp 968.77 1/1 72 25 0 25 1.0 intronic rs10414676 TMEM161A AU NM_017814 exon10 c.13200-95T>C 0.736222 0.8958 Uncertain 19_19245511_T->G 19 19245511 19245511 T G snp 185.9 1/1 15 6 0 6 1.0 intronic rs3826994 TMEM161A AU NM_017814 exon11 c.14854-81T>G 0.209065 0.3403 Uncertain 19_19256870_G->A 19 19256870 19256870 G A snp 77.77 0/1 99 10 6 4 0.4 intronic rs2238663 MEF2B AU NM_001145785 exon1 c.226+39G>A 0.322883 0.3065 0.226651 0.4448 0.4583 Uncertain 19_19258385_A->G 19 19258385 19258385 A G snp 135.77 0/1 99 18 13 5 0.28 intronic rs2238664 MEF2B AU NM_001145785 exon6 c.1901-121A>G 0.178514 0.2817 Uncertain 19_19267910_G->A 19 19267910 19267910 G A snp 505.77 0/1 99 61 38 23 0.38 intronic rs12162274 MEF2B AU NM_001145785 exon8 c.4968+6337G>A 0.213658 0.3403 0.2214 0.3684 Uncertain 19_19267990_C->T 19 19267990 19267990 C T snp 1699.77 1/1 99 64 0 64 1.0 intronic rs7257072 MEF2B AU NM_001145785 exon8 c.4968+6417C>T 0.636781 0.7411 0.5718 0.7703 Uncertain 19_19268114_T->C 19 19268114 19268114 T C snp 59.74 1/1 6 3 0 3 1.0 intronic rs12162246 MEF2B AU NM_001145785 exon8 c.4968+6541T>C 0.227236 0.3403 Uncertain 19_19298028_G->A 19 19298028 19298028 G A snp 116.77 0/1 58 6 2 4 0.67 intronic rs73537449 MEF2BNB AU NM_001145783 exon3 c.4437+214G>A 0.220048 0.369 Uncertain 19_19304965_A->G 19 19304965 19304965 A G snp 1902.77 1/1 99 66 0 66 1.0 intronic rs2283626 RFXANK AR NM_003721 exon3 c.187+23A>G 0.252596 0.3859 0.161618 0.1776 0.3697 Uncertain 19_19309151_C->T 19 19309151 19309151 C T snp 493.77 0/1 99 44 22 22 0.5 intronic RFXANK AR NM_003721 exon7 c.4286+110C>T Uncertain 19_19313074_G->A 19 19313074 19313074 G A snp 555.77 0/1 99 40 22 18 0.45 intronic rs76751042 NR2C2AP AU NM_176880 exon2 c.406-65G>A 0.013778 0.0645 0.000657 0.0047 0.0621 Uncertain 19_19330155_G->A 19 19330155 19330155 G A snp 683.77 1/1 51 18 0 18 1.0 intronic rs12459735 NCAN AU NM_004386 exon3 c.2363+30G>A 0.161342 0.1944 0.107023 0.1621 0.2080 Uncertain 19_19330213_A->C 19 19330213 19330213 A C snp 141.03 1/1 12 4 0 4 1.0 intronic rs4808187 NCAN AU NM_004386 exon3 c.2363+88A>C 0.165335 0.1944 Uncertain 19_19335083_A->G 19 19335083 19335083 A G snp 7549.77 1/1 99 250 0 250 1.0 intronic rs2238672 NCAN AU NM_004386 exon5 c.7352-31A>G 0.216653 0.2063 0.149469 0.1582 0.1856 Uncertain 19_19335307_A->G 19 19335307 19335307 A G snp 557.77 0/1 99 25 9 16 0.64 intronic rs2238673 NCAN AU NM_004386 exon5 c.7480+65A>G 0.0706869 0.1379 Uncertain 19_19344579_C->T 19 19344579 19344579 C T snp 185.77 0/1 99 21 12 9 0.43 intronic rs11672216 NCAN AU NM_004386 exon9 c.16835-18C>T 0.101038 0.0526 0.081501 0.0567 0.0562 Uncertain 19_19345802_C->T 19 19345802 19345802 C T snp 1078.77 0/1 99 76 31 45 0.59 exonic rs2228600 NCAN AU synonymous SNV NM_004386 exon10 c.C3147T p.D1049D 0.100639 0.0526 0.081578 0.0566 0.0562 Uncertain 19_19348947_T->C 19 19348947 19348947 T C snp 418.77 1/1 33 11 0 11 1.0 intronic rs12981871 NCAN AU NM_004386 exon11 c.21299-114T>C 0.996406 1 Uncertain 19_19351353_T->C 19 19351353 19351353 T C snp 1245.77 0/1 99 110 60 50 0.45 intronic rs13345554 NCAN AU NM_004386 exon12 c.23649-58T>C 0.095647 0.0526 0.070740 Uncertain 19_19351431_G->A 19 19351431 19351431 G A snp 2738.77 0/1 99 214 102 112 0.52 exonic rs2229851 NCAN AU synonymous SNV NM_004386 exon12 c.G3429A p.T1143T 0.0638978 0.1319 0.034292 0.0575 0.1146 Uncertain 19_19356390_C->G 19 19356390 19356390 C G snp 178.9 1/1 15 5 0 5 1.0 intronic rs10414343 NCAN AU NM_004386 exon13 c.28504+124C>G 0.271965 0.3204 Uncertain 19_19369435_A->G 19 19369435 19369435 A G snp 2575.77 0/1 99 224 117 107 0.48 exonic rs2074295 HAPLN4 AU synonymous SNV NM_023002 exon4 c.T714C p.S238S 0.353035 0.2589 0.293955 0.2867 0.2622 Uncertain 19_19373689_A->G 19 19373689 19373689 A G snp 77.77 0/1 99 7 4 3 0.43 upstream rs2074296 HAPLN4 AU 0.427915 0.3224 Uncertain 19_19380646_T->C 19 19380646 19380646 T C snp 319.77 0/1 99 32 20 12 0.38 intronic rs2074299 TM6SF2 AU NM_001001524 exon6 c.5106+68T>C 0.465855 0.3264 Uncertain 19_19380996_G->T 19 19380996 19380996 G T snp 2224.77 0/1 99 186 98 88 0.47 exonic rs2074300 TM6SF2 AU synonymous SNV NM_001001524 exon4 c.C387A p.G129G 0.265775 0.3065 0.182507 0.2277 0.2887 0 D 0.000 P -0.975 T Likely benign 19_19381715_G->A 19 19381715 19381715 G A snp 642.77 0/1 99 73 44 29 0.4 intronic rs2074301 TM6SF2 AU NM_001001524 exon9 c.6358-115G>A 0.265575 0.3065 Uncertain 19_19381755_C->T 19 19381755 19381755 C T snp 1151.77 0/1 99 120 66 54 0.45 intronic rs2074303 TM6SF2 AU NM_001001524 exon9 c.6358-75C>T 0.467053 0.3264 Uncertain 19_19387743_A->C 19 19387743 19387743 A C snp 1216.77 0/1 99 82 37 45 0.55 intronic rs2074550 SUGP1 AU NM_172231 exon2 c.299-12A>C 0.463458 0.3264 0.430571 0.3865 0.3074 Uncertain 19_19388057_G->C 19 19388057 19388057 G C snp 35.77 0/1 60 5 2 3 0.6 intronic rs2074551 SUGP1 AU NM_172231 exon2 c.429+172G>C 0.420128 0.3234 Uncertain 19_19388500_A->T 19 19388500 19388500 A T snp 736.77 0/1 99 41 17 24 0.59 intronic rs8107974 SUGP1 AU NM_172231 exon3 c.1086-42A>T 0.118011 0.1052 0.109411 0.0868 0.0953 Uncertain 19_19413381_A->G 19 19413381 19413381 A G snp 117.77 0/1 90 7 3 4 0.57 intronic rs2315022 SUGP1 AU NM_172231 exon8 c.25741+184A>G 0.467252 0.3244 Uncertain 19_19420989_G->A 19 19420989 19420989 G A snp 1494.77 0/1 99 145 79 66 0.46 exonic SUGP1 AU nonsynonymous SNV NM_172231 exon3 c.C227T p.S76F 0.02 T 0.788 N -0.996 T 0.93 T 0.365 D Pathogenic 19_19431423_T->G 19 19431423 19431423 T G snp 999.77 0/1 99 48 14 34 0.71 upstream rs3934667 MAU2 AU 0.530551 0.6746 Uncertain 19_19431963_G->T 19 19431963 19431963 G T snp 1539.77 0/1 99 215 142 73 0.34 intronic rs12460764 MAU2 AU NM_015329 exon1 c.276+19G>T 0.53135 0.6756 0.566799 0.6068 0.6960 Uncertain 19_19440066_C->T 19 19440066 19440066 C T snp 32.77 0/1 61 6 3 3 0.5 intronic rs3764567 MAU2 AU NM_015329 exon2 c.14858-6460C>T 0.58766 0.6954 Uncertain 19_19446936_G->A 19 19446936 19446936 G A snp 1490.77 0/1 99 150 86 64 0.43 exonic rs769267 MAU2 AU synonymous SNV NM_015329 exon3 c.G300A p.P100P 0.526158 0.6677 0.580339 0.6074 0.6893 Uncertain 19_19447933_-->T 19 19447933 19447933 - T indel 1569.73 1/1 31 93 8 85 0.91 intronic rs34414052 MAU2 AU NM_015329 exon4 c.16310-45insT 0.765375 0.8323 0.6332 0.7084 Uncertain 19_19448200_A->G 19 19448200 19448200 A G snp 59.74 1/1 6 3 0 3 1.0 intronic rs756999 MAU2 AU NM_015329 exon4 c.16406+126A>G 0.844449 1 Uncertain 19_19449603_G->A 19 19449603 19449603 G A snp 2054.77 0/1 99 178 88 90 0.51 intronic rs2074089 MAU2 AU NM_015329 exon5 c.17985-50G>A 0.524161 0.6677 0.572637 0.5989 0.6936 Uncertain 19_19449686_G->T 19 19449686 19449686 G T snp 1947.77 0/1 99 155 71 84 0.54 exonic rs2074090 MAU2 AU synonymous SNV NM_015329 exon5 c.G489T p.S163S 0.524161 0.6677 0.573159 0.6041 0.6909 Uncertain 19_19451591_A->G 19 19451591 19451591 A G snp 2214.77 1/1 99 90 0 90 1.0 intronic rs2965190 MAU2 AU NM_015329 exon6 c.19986-63A>G 0.844449 1 0.802234 Uncertain 19_19452249_G->A 19 19452249 19452249 G A snp 1024.77 0/1 99 85 40 45 0.53 intronic rs2301668 MAU2 AU NM_015329 exon7 c.20548+33G>A 0.261981 0.3036 0.178820 0.2279 0.2859 Uncertain 19_19453521_T->G 19 19453521 19453521 T G snp 1746.77 0/1 99 148 77 71 0.48 intronic rs2965191 MAU2 AU NM_015329 exon8 c.21822+31T>G 0.524361 0.6677 0.566281 0.6001 0.6902 Uncertain 19_19453560_C->A 19 19453560 19453560 C A snp 1724.77 0/1 99 160 79 81 0.51 intronic rs2301669 MAU2 AU NM_015329 exon9 c.21916-24C>A 0.524361 0.6677 0.571783 0.6001 0.6904 Uncertain 19_19453742_A->G 19 19453742 19453742 A G snp 1459.77 1/1 99 53 0 53 1.0 intronic rs2965192 MAU2 AU NM_015329 exon9 c.22007+67A>G 0.998003 1 Uncertain 19_19454828_G->A 19 19454828 19454828 G A snp 461.77 0/1 99 42 24 18 0.43 intronic rs2965193 MAU2 AU NM_015329 exon10 c.23081+79G>A 0.523762 0.6677 Uncertain 19_19466269_C->T 19 19466269 19466269 C T snp 1338.77 0/1 99 93 44 49 0.53 intronic rs2301671 MAU2 AU NM_015329 exon18 c.34532+69C>T 0.303714 0.3046 Uncertain 19_19547086_T->C 19 19547086 19547086 T C snp 3518.77 1/1 99 103 0 103 1.0 intronic rs2916077 GATAD2A AU 1 1 Uncertain 19_19637930_A->G 19 19637930 19637930 A G snp 250.8 1/1 21 9 0 9 1.0 intronic rs7251447 NDUFA13 AU NM_015965 exon3 c.11042-159A>G 0.986621 1 Uncertain 19_19643534_C->T 19 19643534 19643534 C T snp 1898.77 0/1 99 217 133 84 0.39 exonic rs137912279 YJEFN3 AU synonymous SNV NM_001190328 exon2 c.C153T p.A51A 0.00359425 0.0169 0.000317 0.0025 0.0445 Uncertain 19_19735257_G->T 19 19735257 19735257 G T snp 7440.77 1/1 99 250 0 250 1.0 exonic rs1266503 LPAR2 AU synonymous SNV NM_004720 exon3 c.C864A p.S288S 1 1 1 1 Uncertain 19_19740729_C->G 19 19740729 19740729 C G snp 805.77 1/1 60 26 0 26 1.0 UTR3 rs880090 GMIP AU 0.694489 0.7629 0.674729 0.7183 0.7668 Uncertain 19_19750822_C->T 19 19750822 19750822 C T snp 457.77 1/1 36 15 0 15 1.0 intronic rs45458192 GMIP AU NM_016573 exon15 c.10122-71C>T 0.239417 0.2956 Uncertain 19_19750825_G->- 19 19750825 19750825 G - indel 592.73 1/1 48 16 0 16 1.0 intronic rs11298700 GMIP AU NM_016573 exon15 c.10122-68delG 0.477037 0.3948 Uncertain 19_19751456_C->A 19 19751456 19751456 C A snp 431.77 1/1 33 17 0 17 1.0 intronic rs2043293 GMIP AU NM_016573 exon17 c.10609+76C>A 0.814097 0.7629 Uncertain 19_19753292_G->A 19 19753292 19753292 G A snp 3213.77 1/1 99 119 0 119 1.0 intronic rs7248885 GMIP AU NM_016573 exon20 c.12572-51G>A 0.384585 0.3532 0.377573 Uncertain 19_19758190_T->C 19 19758190 19758190 T C snp 1937.77 0/1 99 159 60 99 0.62 intronic rs892035 ATP13A1 AU NM_020410 exon6 c.1992-32T>C 0.792332 0.622 0.776411 0.7613 0.6282 Uncertain 19_19758531_G->A 19 19758531 19758531 G A snp 532.77 0/1 99 38 16 22 0.58 exonic rs140566569 ATP13A1 AU synonymous SNV NM_020410 exon20 c.C2670T p.V890V 0.00439297 0.0208 0.000231 0.0025 0.0311 Uncertain 19_19765269_G->C 19 19765269 19765269 G C snp 141.03 1/1 12 5 0 5 1.0 intronic rs892036 ATP13A1 AU NM_020410 exon14 c.9121-82G>C 0.799121 0.625 Uncertain 19_19788969_G->T 19 19788969 19788969 G T snp 56.77 0/1 85 15 11 4 0.27 intronic ZNF101 AU NM_033204 exon2 c.9027+170G>T Uncertain 19_19789528_A->G 19 19789528 19789528 A G snp 350.77 0/1 99 24 9 15 0.63 intronic rs2304130 ZNF101 AU NM_033204 exon3 c.9762-6A>G 0.147963 0.1329 0.114178 0.1108 0.1321 Uncertain 19_19822049_T->C 19 19822049 19822049 T C snp 161.77 0/1 99 11 4 7 0.64 UTR3 rs7246866 ZNF14 AU 0.477037 0.499 Uncertain 19_19823936_A->C 19 19823936 19823936 A C snp 466.77 0/1 99 33 18 15 0.45 intronic rs761360678 ZNF14 AU NM_021030 exon1 c.1738+38A>C 2.747e-05 0.0004 Uncertain 19_19824850_T->G 19 19824850 19824850 T G snp 984.77 0/1 99 97 51 46 0.47 intronic rs11085270 ZNF14 AU NM_021030 exon2 c.2739-49T>G 0.188099 0.2331 0.196986 0.2021 0.2443 Uncertain 19_19910183_A->G 19 19910183 19910183 A G snp 887.77 0/1 99 68 30 38 0.56 intronic rs34277739 ZNF506 AU NM_001099269 exon1 c.1109+3714A>G 0.216454 0.2817 Uncertain 19_19910250_T->C 19 19910250 19910250 T C snp 531.77 0/1 99 65 41 24 0.37 intronic rs72620574 ZNF506 AU NM_001099269 exon1 c.1109+3781T>C 0.203275 0.4157 0.1425 0.4318 Uncertain 19_19916736_T->C 19 19916736 19916736 T C snp 868.77 0/1 99 46 15 31 0.67 intronic rs12973032 ZNF506 AU NM_001099269 exon2 c.11479-103T>C 0.285942 0.2847 Uncertain 19_19976701_A->T 19 19976701 19976701 A T snp 1343.77 1/1 96 44 0 44 1.0 upstream rs2304169 ZNF253 AU 0.509984 0.7312 Uncertain 19_19976988_G->A 19 19976988 19976988 G A snp 222.77 0/1 99 13 5 8 0.62 intronic rs60745231 ZNF253 AU NM_021047 exon1 c.3+180G>A 0.261781 0.495 Uncertain 19_20002439_G->T 19 20002439 20002439 G T snp 1469.77 0/1 99 150 84 66 0.44 exonic rs75543118 ZNF253 AU nonsynonymous SNV NM_021047 exon4 c.G383T p.G128V 0.0838658 0.1766 0.025509 0.0496 0.1662 0.000 P -1.021 T 0.219 T 0.106 T Pathogenic 19_20002573_A->G 19 20002573 20002573 A G snp 1705.77 0/1 99 118 52 66 0.56 exonic rs77010331 ZNF253 AU nonsynonymous SNV NM_021047 exon4 c.A517G p.K173E 0.0139776 0.0694 0.000318 0.0066 0.0711 1 N -1.038 T 0.249 T 0.149 T Pathogenic 19_20003109_A->G 19 20003109 20003109 A G snp 2134.77 1/1 99 73 0 73 1.0 exonic rs8106559 ZNF253 AU synonymous SNV NM_021047 exon4 c.A1053G p.L351L 0.483626 0.6815 0.366822 0.3269 0.6598 Uncertain 19_20003576_C->G 19 20003576 20003576 C G snp 2443.77 1/1 99 85 0 85 1.0 UTR3 rs12460570 ZNF253 AU 0.298323 0.6181 0.191411 0.2447 0.5940 Uncertain 19_20011811_T->C 19 20011811 20011811 T C snp 1335.77 0/1 99 92 39 53 0.58 UTR5 rs7253941 ZNF93 AU 0.240216 0.1895 0.187473 Uncertain 19_20012070_T->C 19 20012070 20012070 T C snp 3228.29 1/1 99 103 1 102 0.99 intronic rs28590063 ZNF93 AU NM_031218 exon1 c.3+170T>C 0.548123 0.6806 Uncertain 19_20044041_G->T 19 20044041 20044041 G T snp 1606.77 0/1 99 141 74 67 0.48 exonic rs12151060 ZNF93 AU nonsynonymous SNV NM_031218 exon4 c.G277T p.D93Y 0.1877 0.4415 0.146801 0.1781 0.4199 0.03 T 0.003 P -0.956 T 0.6 T 0.236 P Pathogenic 19_20046783_G->T 19 20046783 20046783 G T snp 115.77 0/1 54 9 3 6 0.67 downstream ZNF93 AU Uncertain 19_20046796_G->A 19 20046796 20046796 G A snp 107.77 0/1 99 9 3 6 0.67 downstream rs10414795 ZNF93 AU 0.191094 0.2242 0.1817 0.1897 Uncertain 19_20117685_G->A 19 20117685 20117685 G A snp 983.77 0/1 99 77 35 42 0.55 exonic rs2075090 ZNF682 AU nonsynonymous SNV NM_001077349 exon4 c.C530T p.T177I 0.124002 0.1954 0.058688 0.0743 0.1845 0.01 T 0.000 P -1.053 T 0.082 T 0.065 T Pathogenic 19_20135066_G->T 19 20135066 20135066 G T snp 1158.77 0/1 99 90 47 43 0.48 exonic rs61739376 ZNF682 AU synonymous SNV NM_001077349 exon2 c.C27A p.V9V 0.091853 0.2093 0.024103 0.0560 0.1996 Uncertain 19_20135406_G->A 19 20135406 20135406 G A snp 262.77 0/1 48 10 2 8 0.8 intronic rs6511067 ZNF682 AU NM_033196 exon3 c.18372+221G>A 0.764577 0.5585 Uncertain 19_20150075_A->G 19 20150075 20150075 A G snp 837.77 0/1 99 58 26 32 0.55 intronic rs2286920 ZNF682 AU NM_001077349 exon4 c.33251+11A>G 0.752995 0.5466 0.775734 Uncertain 19_20150125_T->C 19 20150125 20150125 T C snp 1370.77 0/1 99 123 59 64 0.52 intronic rs2286921 ZNF682 AU NM_033196 exon4 c.33338-26T>C 0.752995 0.5466 0.780876 0.7809 0.5278 Uncertain 19_20150175_G->C 19 20150175 20150175 G C snp 1914.77 0/1 99 164 78 86 0.52 UTR5 rs2286922 ZNF682 AU 0.763778 0.5466 0.795388 0.7963 0.5278 Uncertain 19_20150247_A->C 19 20150247 20150247 A C snp 1347.77 0/1 99 122 62 60 0.49 UTR5 rs2286923 ZNF682 AU 0.752995 0.5466 0.775953 Uncertain 19_20150380_T->C 19 20150380 20150380 T C snp 118.77 0/1 99 9 4 5 0.56 upstream rs2335896 ZNF682 AU 0.754992 0.5466 Uncertain 19_20188745_T->C 19 20188745 20188745 T C snp 95.77 0/1 99 10 6 4 0.4 upstream rs11085297 ZNF90 AU 0.156749 0.249 Uncertain 19_20228941_A->G 19 20228941 20228941 A G snp 188.77 0/1 99 17 8 9 0.53 exonic ZNF90 AU nonsynonymous SNV NM_007138 exon4 c.A578G p.K193R 0.122604 0.3393 0.070959 0.1153 0.3379 0.000 P -0.905 T 0.151 T 0.119 T Pathogenic 19_20229486_G->A 19 20229486 20229486 G A snp 1576.77 0/1 99 153 86 67 0.44 exonic ZNF90 AU nonsynonymous SNV NM_007138 exon4 c.G1123A p.G375S 0.229034 0.495 0.111914 0.1746 0.5219 0.222 P -0.931 T 0.994 D 0.768 D Pathogenic 19_20230264_T->A 19 20230264 20230264 T A snp 265.77 0/1 99 17 7 10 0.59 UTR3 ZNF90 AU 0.430711 0.496 Uncertain 19_20242274_G->A 19 20242274 20242274 G A snp 708.77 0/1 99 63 27 36 0.57 intergenic ZNF90 AU 0.220248 0.4484 Uncertain 19_20242392_G->T 19 20242392 20242392 G T snp 69.77 0/1 98 11 7 4 0.36 intergenic ZNF90 AU Uncertain 19_20242602_A->G 19 20242602 20242602 A G snp 136.77 0/1 99 13 7 6 0.46 intergenic ZNF90 AU 0.220447 0.4484 Uncertain 19_20295146_G->A 19 20295146 20295146 G A snp 625.77 0/1 99 50 26 24 0.48 intronic rs1097510 ZNF486 AU NM_052852 exon2 c.17025-18G>A 0.288538 0.4593 0.184028 0.2248 0.4916 Uncertain 19_20296738_C->G 19 20296738 20296738 C G snp 431.77 0/1 99 25 7 18 0.72 intronic rs836897 ZNF486 AU NM_052852 exon3 c.18656-57C>G 0.288538 0.4583 Uncertain 19_20369503_C->G 19 20369503 20369503 C G snp 2549.77 0/1 99 245 133 112 0.46 intergenic ZNF486 AU 0.414337 0.4633 Uncertain 19_20414254_A->G 19 20414254 20414254 A G snp 512.77 0/1 99 58 34 24 0.41 intergenic ZNF486 AU 0.422724 0.4633 Uncertain 19_20415575_C->A 19 20415575 20415575 C A snp 668.77 0/1 99 56 31 25 0.45 intergenic ZNF486 AU 0.252196 0.4623 Uncertain 19_20727463_T->C 19 20727463 20727463 T C snp 609.77 0/1 99 70 40 30 0.43 exonic ZNF737 AU nonsynonymous SNV NM_001159293 exon4 c.A1546G p.K516E 0.417732 0.4395 0.368156 0.4246 0.4585 0 D 0.068 P -0.944 T 0.133 T 0.115 T Pathogenic 19_20727932_G->A 19 20727932 20727932 G A snp 833.77 0/1 99 66 32 34 0.52 exonic ZNF737 AU synonymous SNV NM_001159293 exon4 c.C1077T p.H359H 0.557708 0.6171 0.506570 0.5392 0.6359 Uncertain 19_20735138_G->A 19 20735138 20735138 G A snp 69.77 0/1 98 8 4 4 0.5 intronic ZNF737 AU NM_001159293 exon2 c.7883-142G>A Uncertain 19_20735196_A->T 19 20735196 20735196 A T snp 1142.77 0/1 99 89 46 43 0.48 intronic ZNF737 AU NM_001159293 exon2 c.7883-84A>T 0.435104 0.4504 Uncertain 19_20735272_T->C 19 20735272 20735272 T C snp 1670.77 0/1 99 167 88 79 0.47 intronic ZNF737 AU NM_001159293 exon2 c.7883-8T>C 0.459265 0.4534 0.411520 0.4509 0.4870 Uncertain 19_20736677_A->G 19 20736677 20736677 A G snp 4601.77 1/1 99 168 0 168 1.0 intronic ZNF737 AU NM_001159293 exon3 c.9244+36A>G 0.748203 0.7302 0.668712 0.6521 0.7403 Uncertain 19_20806824_T->C 19 20806824 20806824 T C snp 276.77 0/1 99 16 5 11 0.69 UTR3 ZNF626 AU 0.779153 0.8333 Uncertain 19_20808149_A->G 19 20808149 20808149 A G snp 1104.77 0/1 99 129 80 49 0.38 exonic ZNF626 AU synonymous SNV NM_001076675 exon4 c.T534C p.C178C 0.779153 0.8343 0.798781 0.8348 0.8301 Uncertain 19_20808515_T->A 19 20808515 20808515 T A snp 294.77 0/1 99 37 22 15 0.41 intronic ZNF626 AU NM_001076675 exon1 c.1361+59T>A 0.779153 0.8343 Uncertain 19_20828106_-->AA 19 20828106 20828106 - AA indel 256.73 0/1 99 15 8 7 0.47 UTR3 ZNF626 AU 0.397364 0.4702 Uncertain 19_20828410_-->AAG 19 20828410 20828410 - AAG indel 2211.73 0/1 99 122 82 40 0.33 intronic ZNF626 AU NM_001076675 exon2 c.21394-79insAAG 0.197684 0.3988 Uncertain 19_20844340_-->AAGT 19 20844340 20844340 - AAGT indel 8769.73 1/1 99 129 0 129 1.0 UTR5 ZNF626 AU 0.775559 0.6349 0.806678 Uncertain 19_20973561_AAA->- 19 20973561 20973563 AAA - indel 5475.73 1/1 99 109 0 109 1.0 intergenic ZNF626 AU 0.376198 0.4444 0.4545 0.5 ID=COSM439067;OCCURENCE=1(breast) Uncertain 19_20975471_ATAAT->- 19 20975471 20975475 ATAAT - indel 3409.73 0/1 99 116 48 68 0.59 intergenic ZNF626 AU 0.0107827 0.0536 0.0043 0.0569 Uncertain 19_20976742_A->G 19 20976742 20976742 A G snp 3242.77 1/1 99 115 0 115 1.0 intergenic ZNF626 AU 0.612021 0.5913 0.6458 0.6305 Uncertain 19_20988637_G->A 19 20988637 20988637 G A snp 3069.77 1/1 99 113 0 113 1.0 intergenic ZNF626 AU 0.352835 0.4345 0.4136 0.4739 Uncertain 19_21125710_T->A 19 21125710 21125710 T A snp 209.84 1/1 18 6 0 6 1.0 UTR3 rs12983551 ZNF85 AU 0.355032 0.4365 Uncertain 19_21203552_C->T 19 21203552 21203552 C T snp 3462.77 1/1 99 114 0 114 1.0 UTR5 ZNF430 AU 0.91893 0.8581 0.945028 Uncertain 19_21205531_C->T 19 21205531 21205531 C T snp 866.77 0/1 99 68 33 35 0.51 intronic ZNF430 AU NM_025189 exon2 c.1988-63C>T 0.498602 0.7202 Uncertain 19_21216536_G->A 19 21216536 21216536 G A snp 346.77 0/1 99 21 10 11 0.52 intronic ZNF430 AU NM_025189 exon3 c.12782+148G>A 0.772963 0.8601 Uncertain 19_21217211_A->G 19 21217211 21217211 A G snp 90.28 1/1 9 3 0 3 1.0 intronic ZNF430 AU NM_025189 exon4 c.13384+221A>G 0.998003 0.9901 Uncertain 19_21299774_-->ATA 19 21299774 21299774 - ATA indel 3893.73 0/1 99 173 92 81 0.47 exonic rs36125838 ZNF714 AU nonframeshift insertion NM_182515 exon5 c.304_305insATA p.Y102delinsYN 0.841454 0.8601 0.860598 0.8968 0.8755 Uncertain 19_21300462_A->G 19 21300462 21300462 A G snp 1061.77 0/1 99 77 34 43 0.56 exonic rs2884554 ZNF714 AU nonsynonymous SNV NM_182515 exon5 c.A992G p.K331R 0.669529 0.8611 0.677372 0.7877 0.8788 0.17 T 0.000 P -0.967 T 0.999 D 0.969 D Pathogenic 19_21349311_C->T 19 21349311 21349311 C T snp 1763.77 0/1 99 150 79 71 0.47 intronic rs7256576 ZNF431 AU NM_133473 exon3 c.24278+47C>T 0.899161 0.8284 0.961941 0.9255 0.8341 Uncertain 19_21477431_T->C 19 21477431 21477431 T C snp 1345.77 0/1 99 130 72 58 0.45 exonic rs1781873 ZNF708 AU nonsynonymous SNV NM_001297561 exon3 c.A145G p.K49E 0.621006 0.629 0.584038 0.5569 0.6229 0.5 T 0.0 P -1.073 T 0.004 T 0.008 T Pathogenic 19_21492062_G->A 19 21492062 21492062 G A snp 2495.77 0/1 99 210 93 117 0.56 exonic rs547516 ZNF708 AU nonsynonymous SNV NM_001297561 exon2 c.C20T p.A7V 0.898962 0.744 0.974542 0.9313 0.7303 1 T 0.0 P -1.002 T 0.0 T 0.0 T Pathogenic 19_21511784_G->A 19 21511784 21511784 G A snp 103.77 0/1 99 10 5 5 0.5 intronic rs11085443 ZNF708 AU NM_021269 exon4 c.35936-227G>A 0.680312 0.6429 Uncertain 19_21541806_T->C 19 21541806 21541806 T C snp 793.77 0/1 99 48 17 31 0.65 ncRNA_exonic rs2012013 ZNF738 AU 0.602037 0.6359 Uncertain 19_21544462_G->A 19 21544462 21544462 G A snp 254.77 0/1 99 17 8 9 0.53 ncRNA_intronic rs12982162 ZNF738 AU 0.602037 0.6359 Uncertain 19_21544466_C->G 19 21544466 21544466 C G snp 269.77 0/1 99 19 9 10 0.53 ncRNA_intronic rs12981735 ZNF738 AU 0.602037 0.6359 Uncertain 19_21544503_C->T 19 21544503 21544503 C T snp 849.77 0/1 99 66 34 32 0.48 ncRNA_intronic rs12981775 ZNF738 AU 0.602037 0.6359 Uncertain 19_21544514_A->G 19 21544514 21544514 A G snp 1059.77 0/1 99 82 42 40 0.49 ncRNA_intronic rs12981564 ZNF738 AU 0.602037 0.6359 Uncertain 19_21544571_G->A 19 21544571 21544571 G A snp 1431.77 0/1 99 147 80 67 0.46 ncRNA_exonic rs1142653 ZNF738 AU 0.602037 0.6359 0.5527 0.6309 1 T 0.0 P -1.008 T 0.035 T 0.003 T Uncertain 19_21544714_C->G 19 21544714 21544714 C G snp 634.77 0/1 99 53 28 25 0.47 ncRNA_intronic rs12982282 ZNF738 AU 0.602037 0.6359 Uncertain 19_21544805_T->A 19 21544805 21544805 T A snp 42.77 0/1 31 3 1 2 0.67 ncRNA_intronic rs2968023 ZNF738 AU 0.903355 0.7371 Uncertain 19_21558015_-->TG 19 21558015 21558015 - TG indel 656.73 0/1 99 40 21 19 0.47 ncRNA_intronic rs10688072 ZNF738 AU 0.4320 0.4534 Uncertain 19_21558311_C->T 19 21558311 21558311 C T snp 314.77 0/1 47 12 2 10 0.83 ncRNA_intronic rs2914645 ZNF738 AU 0.897963 0.7371 Uncertain 19_21560141_G->A 19 21560141 21560141 G A snp 154.77 0/1 63 7 2 5 0.71 ncRNA_intronic rs1875256 ZNF738 AU 0.870208 0.7371 0.9224 0.7379 Uncertain 19_21560456_G->A 19 21560456 21560456 G A snp 39.74 1/1 6 2 0 2 1.0 ncRNA_exonic rs924485 ZNF738 AU 0.897963 0.7371 Uncertain 19_21587918_G->T 19 21587918 21587918 G T snp 738.77 0/1 99 59 33 26 0.44 intronic rs7254059 ZNF493 AU NM_145326 exon2 c.7891-12G>T 0.576677 0.627 0.554667 0.5396 0.6280 Uncertain 19_21588165_G->A 19 21588165 21588165 G A snp 745.77 0/1 99 50 26 24 0.48 intronic rs2650847 ZNF493 AU NM_145326 exon2 c.8018+108G>A 0.709465 0.6577 Uncertain 19_21588692_T->C 19 21588692 21588692 T C snp 329.77 0/1 99 30 15 15 0.5 intronic rs1055753 ZNF493 AU NM_145326 exon3 c.8619+34T>C 0.589457 0.6359 0.554898 0.5447 0.6304 Uncertain 19_21606429_G->T 19 21606429 21606429 G T snp 946.77 0/1 99 111 69 42 0.38 exonic rs4621113 ZNF493 AU nonsynonymous SNV NM_175910 exon2 c.G584T p.C195F 0.58766 0.6319 0.553981 0.5360 0.6224 0 D 1.0 P -0.915 T 1.0 D 1.0 D Pathogenic 19_21607879_TAAT->- 19 21607879 21607882 TAAT - indel 958.73 0/1 99 37 17 20 0.54 UTR3 rs34723025 ZNF493 AU 0.290335 0.3403 Uncertain 19_21688495_C->T 19 21688495 21688495 C T snp 722.77 0/1 99 69 43 26 0.38 UTR5 rs73017722 ZNF429 AU 0.555511 0.6438 0.531975 Uncertain 19_21688602_C->G 19 21688602 21688602 C G snp 2535.77 0/1 99 209 97 112 0.54 intronic rs10420016 ZNF429 AU NM_001001415 exon1 c.3+26C>G 0.815695 0.7262 0.819133 0.7691 0.7147 Uncertain 19_21719401_T->C 19 21719401 21719401 T C snp 1126.77 0/1 99 102 56 46 0.45 exonic rs35782355 ZNF429 AU synonymous SNV NM_001001415 exon4 c.T546C p.F182F 0.557708 0.6389 0.527183 0.5514 0.6098 Uncertain 19_21736544_T->C 19 21736544 21736544 T C snp 99.28 1/1 9 3 0 3 1.0 intergenic rs2562503 ZNF429 AU 0.965655 1 Uncertain 19_21736788_T->C 19 21736788 21736788 T C snp 1894.77 1/1 99 76 1 75 0.99 intergenic rs2562502 ZNF429 AU 0.974042 0.999 0.9905 1 Uncertain 19_21736838_T->C 19 21736838 21736838 T C snp 501.77 0/1 99 34 15 19 0.56 intergenic rs2681370 ZNF429 AU 0.179912 0.2718 Uncertain 19_21838002_G->T 19 21838002 21838002 G T snp 1853.77 1/1 99 73 0 73 1.0 intergenic rs7351091 ZNF429 AU 0.773562 0.8958 Uncertain 19_21838113_-->GAT 19 21838113 21838113 - GAT indel 2506.73 1/1 99 47 0 47 1.0 intergenic rs34320073 ZNF429 AU 0.76877 0.8958 Uncertain 19_21838146_C->T 19 21838146 21838146 C T snp 727.77 1/1 54 25 0 25 1.0 intergenic rs7351088 ZNF429 AU 0.623802 0.7202 Uncertain 19_21838147_A->G 19 21838147 21838147 A G snp 697.77 1/1 51 23 0 23 1.0 intergenic rs7351087 ZNF429 AU 0.623802 0.7202 Uncertain 19_21838240_C->A 19 21838240 21838240 C A snp 1370.77 1/1 99 49 1 48 0.98 intergenic rs6511279 ZNF429 AU 0.627396 0.7202 Uncertain 19_21838351_A->G 19 21838351 21838351 A G snp 2795.77 1/1 99 105 0 105 1.0 intergenic rs7508059 ZNF429 AU 0.774161 0.8958 Uncertain 19_21838492_C->G 19 21838492 21838492 C G snp 2059.77 1/1 99 67 0 67 1.0 intergenic rs6511280 ZNF429 AU 0.623802 0.7202 Uncertain 19_21838565_T->C 19 21838565 21838565 T C snp 3318.77 1/1 99 120 0 120 1.0 intergenic rs6511281 ZNF429 AU 0.624002 0.7202 Uncertain 19_21838657_G->A 19 21838657 21838657 G A snp 3994.77 1/1 99 148 1 147 0.99 intergenic rs7508494 ZNF429 AU 0.773562 0.8958 Uncertain 19_21838785_C->T 19 21838785 21838785 C T snp 1477.77 1/1 99 47 0 47 1.0 intergenic rs10422946 ZNF429 AU 0.624002 0.7202 Uncertain 19_21838830_A->C 19 21838830 21838830 A C snp 742.77 1/1 54 23 0 23 1.0 intergenic rs10422804 ZNF429 AU 0.773562 0.8958 Uncertain 19_21909948_G->A 19 21909948 21909948 G A snp 1385.77 1/1 99 49 1 48 0.98 exonic rs7246400 ZNF100 AU nonsynonymous SNV NM_173531 exon5 c.C1166T p.T389I 0.509185 0.621 0.501238 0.5440 0.6623 0.24 T 0.000 P -0.973 T 0.804 T 0.448 P Pathogenic 19_21927706_C->T 19 21927706 21927706 C T snp 1743.77 1/1 99 53 1 52 0.98 intronic rs4613201 ZNF100 AU NM_173531 exon3 c.18258-36C>T 0.691494 0.7738 0.752617 0.7794 0.7901 Uncertain 19_21948748_T->C 19 21948748 21948748 T C snp 588.77 1/1 45 18 0 18 1.0 intronic rs11085493 ZNF100 AU NM_173531 exon4 c.39104+160T>C 0.828275 0.8294 Uncertain 19_21950402_T->C 19 21950402 21950402 T C snp 2823.77 1/1 99 106 0 106 1.0 UTR5 rs6511291 ZNF100 AU 0.521965 0.624 Uncertain 19_21990263_C->T 19 21990263 21990263 C T snp 54.74 1/1 6 2 0 2 1.0 UTR3 ZNF43 AU 0.939896 0.994 Uncertain 19_22153495_A->T 19 22153495 22153495 A T snp 662.77 0/1 99 43 16 27 0.63 UTR3 rs2359812 ZNF208 AU 0.599641 0.6925 0.624507 0.5669 0.6898 0 D 1.0 P -1.005 T 0.0 T 0.0 T Uncertain 19_22153696_G->A 19 22153696 22153696 G A snp 198.77 0/1 63 9 3 6 0.67 UTR3 rs4378732 ZNF208 AU 0.572085 0.6925 Uncertain 19_22154954_C->T 19 22154954 22154954 C T snp 770.77 0/1 99 71 39 32 0.45 exonic rs2214301 ZNF208 AU nonsynonymous SNV NM_007153 exon4 c.G2882A p.S961N 0.573083 0.6935 0.594273 0.5573 0.6886 0.57 T 0.0 P -0.983 T Pathogenic 19_22157095_A->G 19 22157095 22157095 A G snp 437.77 0/1 99 31 15 16 0.52 exonic rs534477649 ZNF208 AU synonymous SNV NM_007153 exon4 c.T741C p.H247H 0.000798722 0.003 0.0004 0.0049 Uncertain 19_22157302_G->A 19 22157302 22157302 G A snp 2785.77 0/1 99 249 139 110 0.44 exonic rs10419899 ZNF208 AU synonymous SNV NM_007153 exon4 c.C534T p.Y178Y 0.572284 0.6925 0.592856 0.5580 0.6897 Uncertain 19_22171880_C->T 19 22171880 22171880 C T snp 86.77 0/1 33 7 2 5 0.71 intronic rs4574045 ZNF208 AU NM_007153 exon3 c.17719+169C>T 0.571885 0.6935 Uncertain 19_22193451_C->G 19 22193451 22193451 C G snp 1548.77 1/1 99 49 0 49 1.0 intronic rs2040654 ZNF208 AU NM_007153 exon4 c.39601-142C>G 0.923922 0.8889 Uncertain 19_22235307_C->G 19 22235307 22235307 C G snp 574.77 0/1 99 46 24 22 0.48 UTR5 rs415291 ZNF257 AU 0.497804 0.5456 Uncertain 19_22235491_T->G 19 22235491 22235491 T G snp 1338.77 0/1 99 144 86 58 0.4 intronic rs387343 ZNF257 AU NM_033468 exon1 c.3+54T>G 0.498003 0.5456 Uncertain 19_22235526_T->C 19 22235526 22235526 T C snp 987.77 0/1 99 102 60 42 0.41 intronic rs387315 ZNF257 AU NM_033468 exon1 c.3+89T>C 0.498403 0.5456 0.545554 Uncertain 19_22235577_C->T 19 22235577 22235577 C T snp 431.77 0/1 99 44 25 19 0.43 intronic rs408312 ZNF257 AU NM_033468 exon1 c.3+140C>T 0.493411 0.5456 Uncertain 19_22235620_G->C 19 22235620 22235620 G C snp 182.77 0/1 99 16 9 7 0.44 intronic rs423926 ZNF257 AU NM_033468 exon1 c.3+183G>C 0.492013 0.5456 Uncertain 19_22256396_G->A 19 22256396 22256396 G A snp 2209.77 0/1 99 231 129 102 0.44 intronic rs3752163 ZNF257 AU NM_033468 exon3 c.20932+30G>A 0.716454 0.6478 0.647701 0.6431 0.6559 Uncertain 19_22486535_A->G 19 22486535 22486535 A G snp 5481.77 1/1 99 196 0 196 1.0 intronic rs9304996 ZNF729 AU NM_001242680 exon2 c.17232-24A>G 0.726238 0.7004 0.6486 0.7080 Uncertain 19_22500033_G->A 19 22500033 22500033 G A snp 297.78 1/1 24 9 0 9 1.0 downstream rs7254434 ZNF729 AU 0.729233 0.7014 Uncertain 19_22574237_G->C 19 22574237 22574237 G C snp 294.77 0/1 99 56 39 17 0.3 UTR3 ZNF98 AU Uncertain 19_22575488_C->T 19 22575488 22575488 C T snp 76.77 0/1 99 10 6 4 0.4 exonic rs7247735 ZNF98 AU synonymous SNV NM_001098626 exon4 c.G549A p.K183K 0.398962 0.4107 0.4412 0.4409 Uncertain 19_22575570_T->C 19 22575570 22575570 T C snp 44.77 0/1 73 108 96 12 0.11 exonic rs557673910 ZNF98 AU nonsynonymous SNV NM_001098626 exon4 c.A467G p.Y156C 0.000399361 0.0001 0 1 T 1 N -1.030 T 0.0 T 0.0 T Pathogenic 19_22575596_T->C 19 22575596 22575596 T C snp 281.77 0/1 99 154 130 24 0.16 exonic rs577397310 ZNF98 AU synonymous SNV NM_001098626 exon4 c.A441G p.T147T 0.0129 0.0138 Uncertain 19_22575777_T->C 19 22575777 22575777 T C snp 270.77 0/1 99 56 40 16 0.29 exonic rs200167484 ZNF98 AU nonsynonymous SNV NM_001098626 exon4 c.A260G p.Y87C 0.0892 0.0925 0.57 T 1 N -0.941 T 0.0 T 0.0 T Pathogenic 19_22575784_C->A 19 22575784 22575784 C A snp 178.77 0/1 99 49 38 11 0.22 splicing rs753118485 ZNF98 AU NM_001098626 exon1 c.1466+1C>A 0.0135 0.0323 1.000 N Pathogenic 19_22585517_A->C 19 22585517 22585517 A C snp 556.77 0/1 99 37 16 21 0.57 intronic rs35315232 ZNF98 AU NM_001098626 exon2 c.11273-73A>C Uncertain 19_22585522_T->- 19 22585522 22585522 T - indel 231.73 0/1 99 34 18 16 0.47 intronic rs35112061 ZNF98 AU NM_001098626 exon2 c.11273-68delT 0.176118 0.1617 Uncertain 19_22586073_C->A 19 22586073 22586073 C A snp 101.77 0/1 99 22 17 5 0.23 intronic rs56768795 ZNF98 AU NM_001098626 exon3 c.11870-114C>A 0.275359 0.375 Uncertain 19_22586084_A->C 19 22586084 22586084 A C snp 288.77 0/1 99 40 27 13 0.33 intronic rs113181884 ZNF98 AU NM_001098626 exon3 c.11870-103A>C 0.275359 0.375 Uncertain 19_22586192_A->G 19 22586192 22586192 A G snp 1132.77 0/1 99 165 100 65 0.39 exonic rs1368476 ZNF98 AU synonymous SNV NM_001098626 exon2 c.T153C p.F51F 0.388379 0.3988 0.3632 0.3350 Uncertain 19_22604816_G->A 19 22604816 22604816 G A snp 477.77 0/1 99 32 15 17 0.53 intronic rs11669270 ZNF98 AU NM_001098626 exon4 c.30679-180G>A 0.343051 0.3948 Uncertain 19_22605103_G->C 19 22605103 22605103 G C snp 1396.77 0/1 99 107 48 59 0.55 UTR5 rs11669353 ZNF98 AU 0.343051 0.3948 0.404293 Uncertain 19_22605120_G->T 19 22605120 22605120 G T snp 1052.77 0/1 99 86 42 44 0.51 UTR5 rs11669356 ZNF98 AU 0.342652 0.3948 Uncertain 19_22784767_AGA->- 19 22784767 22784769 AGA - indel 2033.73 0/1 99 59 21 38 0.64 ncRNA_exonic rs138245872 GOLGA2P9 AU 0.0922524 0.2014 Uncertain 19_22784843_T->G 19 22784843 22784843 T G snp 1523.77 0/1 99 112 43 69 0.62 ncRNA_splicing rs11670104 GOLGA2P9 AU 0.409545 0.3323 Uncertain 19_22785134_T->C 19 22785134 22785134 T C snp 3091.77 0/1 99 247 125 122 0.49 ncRNA_exonic rs11670207 GOLGA2P9 AU 0.413139 0.3194 Uncertain 19_22785299_T->G 19 22785299 22785299 T G snp 762.77 0/1 99 44 19 25 0.57 ncRNA_exonic rs11670278 GOLGA2P9 AU 0.293331 0.2679 Uncertain 19_22786020_G->T 19 22786020 22786020 G T snp 774.77 0/1 99 61 31 30 0.49 ncRNA_splicing rs2304141 GOLGA2P9 AU 0.32508 0.3115 Uncertain 19_22786126_T->A 19 22786126 22786126 T A snp 2818.77 0/1 99 220 104 116 0.53 ncRNA_exonic rs2304143 GOLGA2P9 AU 0.384984 0.3214 Uncertain 19_22836711_T->C 19 22836711 22836711 T C snp 754.77 0/1 99 90 52 38 0.42 intronic rs35023140 ZNF492 AU NM_020855 exon3 c.520-10T>C 0.123003 0.1736 0.103129 0.1169 0.1536 Uncertain 19_22836848_T->C 19 22836848 22836848 T C snp 919.77 0/1 99 110 56 54 0.49 intronic rs3745117 ZNF492 AU NM_020855 exon3 c.616+31T>C 0.224042 0.2619 0.2774 0.2734 Uncertain 19_22836858_G->A 19 22836858 22836858 G A snp 864.77 0/1 99 100 51 49 0.49 intronic rs35225656 ZNF492 AU NM_020855 exon3 c.616+41G>A 0.082064 0.1132 0.1442 Uncertain 19_22836874_A->- 19 22836874 22836874 A - indel 355.73 0/1 99 72 39 33 0.46 intronic rs35837772 ZNF492 AU NM_020855 exon3 c.616+57delA 0.189297 0.244 Uncertain 19_22836980_T->A 19 22836980 22836980 T A snp 143.77 0/1 99 13 8 5 0.38 intronic rs3745116 ZNF492 AU NM_020855 exon3 c.616+163T>A 0.208067 0.1736 Uncertain 19_22846680_G->C 19 22846680 22846680 G C snp 210.77 0/1 99 77 61 16 0.21 exonic rs12975335 ZNF492 AU nonsynonymous SNV NM_020855 exon4 c.G209C p.R70T 0.0826677 0.0585 0.0046 0.0020 0.12 T 1.000 N -0.967 T 0.009 T 0.013 T Pathogenic 19_22846697_T->C 19 22846697 22846697 T C snp 214.77 0/1 99 87 69 18 0.21 exonic rs62118831 ZNF492 AU nonsynonymous SNV NM_020855 exon4 c.T226C p.C76R 0.0378 0.0371 0.05 T 0.0 P -0.956 T 0.0 T 0.0 T Pathogenic 19_22846867_G->A 19 22846867 22846867 G A snp 599.77 0/1 99 40 17 23 0.57 exonic rs74406853 ZNF492 AU synonymous SNV NM_020855 exon4 c.G396A p.T132T 0.0379393 0.0813 0.025857 0.0354 0.0929 Uncertain 19_22848028_G->C 19 22848028 22848028 G C snp 1151.77 0/1 99 198 119 79 0.4 exonic rs3745115 ZNF492 AU nonsynonymous SNV NM_020855 exon4 c.G1557C p.K519N 0.195687 0.1667 0.1510 0.1693 0.82 T 0.0 P -0.954 T 0.0 T 0.0 T Pathogenic 19_22867876_G->A 19 22867876 22867876 G A snp 209.77 0/1 99 25 16 9 0.36 intergenic rs12974117 ZNF492 AU 0.1248 0.1736 Uncertain 19_22867944_T->A 19 22867944 22867944 T A snp 867.77 0/1 99 79 45 34 0.43 intergenic rs12975571 ZNF492 AU 0.038139 0.0813 0.0452 0.1210 Uncertain 19_22868096_A->G 19 22868096 22868096 A G snp 1056.77 0/1 99 80 39 41 0.51 intergenic rs55716469 ZNF492 AU 0.124002 0.1736 0.1648 0.2159 0.05 T -1.068 T Uncertain 19_22869372_C->T 19 22869372 22869372 C T snp 861.77 0/1 99 68 37 31 0.46 intergenic rs35689937 ZNF492 AU 0.0377396 0.0813 0.0319 0.0794 Uncertain 19_22869592_A->C 19 22869592 22869592 A C snp 401.77 0/1 99 33 17 16 0.48 intergenic rs35335083 ZNF492 AU 0.213458 0.1736 Uncertain 19_22938918_C->T 19 22938918 22938918 C T snp 335.77 0/1 99 32 18 14 0.44 UTR3 rs71357930 ZNF99 AU 0.123802 0.0813 Uncertain 19_22938990_A->C 19 22938990 22938990 A C snp 157.77 0/1 99 38 29 9 0.24 UTR3 rs71357931 ZNF99 AU 0.0013 0.0015 Uncertain 19_22939007_T->G 19 22939007 22939007 T G snp 149.77 0/1 99 39 31 8 0.21 UTR3 rs201970176 ZNF99 AU 0.011652 0.0006 0.0006 0.0 P Uncertain 19_22939013_C->T 19 22939013 22939013 C T snp 34.77 0/1 63 35 30 5 0.14 UTR3 rs200413555 ZNF99 AU 0.005478 0.0004 0.0005 Uncertain 19_22939018_C->T 19 22939018 22939018 C T snp 31.77 0/1 60 36 31 5 0.14 UTR3 rs201522133 ZNF99 AU 0.0003 0.0002 0.03 T 0.965 N -1.001 T 0.002 T 0.002 T Uncertain 19_22939019_C->T 19 22939019 22939019 C T snp 34.77 0/1 63 36 31 5 0.14 UTR3 rs199826923 ZNF99 AU 0.0003 0.0002 Uncertain 19_22941617_T->C 19 22941617 22941617 T C snp 431.77 0/1 99 44 25 19 0.43 exonic rs58653025 ZNF99 AU nonsynonymous SNV NM_001080409 exon4 c.A1094G p.E365G 0.217053 0.1746 0.194485 0.1450 0.1590 1 T 0.0 P -0.932 T 0.002 T 0.001 T Pathogenic 19_22941938_T->G 19 22941938 22941938 T G snp 582.77 0/1 99 41 15 26 0.63 exonic rs6511379 ZNF99 AU nonsynonymous SNV NM_001080409 exon4 c.A773C p.K258T 0.123003 0.0813 0.107271 0.0635 0.0973 Pathogenic 19_22942325_G->C 19 22942325 22942325 G C snp 1637.77 0/1 99 108 41 67 0.62 exonic rs7255780 ZNF99 AU nonsynonymous SNV NM_001080409 exon4 c.C386G p.A129G 0.367412 0.3462 0.352019 0.3172 0.3372 1 T 0.0 P -0.995 T 0.0 T 0.0 T Pathogenic 19_22952111_A->G 19 22952111 22952111 A G snp 2258.77 0/1 99 191 94 97 0.51 exonic rs34726149 ZNF99 AU nonsynonymous SNV NM_001080409 exon2 c.T19C p.W7R 0.217452 0.1756 0.207499 0.1457 0.1596 0.98 T 0.0 P -0.913 T 0.0 T 0.0 T Pathogenic 19_22952291_T->C 19 22952291 22952291 T C snp 83.77 0/1 33 6 3 3 0.5 intronic rs11665881 ZNF99 AU NM_001080409 exon3 c.12011+165T>C 0.368011 0.3462 Uncertain 19_22952946_T->C 19 22952946 22952946 T C snp 176.77 0/1 99 36 24 12 0.33 intronic rs12980509 ZNF99 AU NM_001080409 exon3 c.12011+820T>C 0.449481 0.3462 Uncertain 19_22966744_C->G 19 22966744 22966744 C G snp 721.77 0/1 99 54 28 26 0.48 intronic rs71357953 ZNF99 AU NM_001080409 exon4 c.26700-71C>G 0.124002 0.0813 Uncertain 19_22966839_C->T 19 22966839 22966839 C T snp 1498.77 0/1 99 135 70 65 0.48 UTR5 rs71357954 ZNF99 AU 0.124002 0.0813 0.0531 0.0781 Uncertain 19_23328940_G->A 19 23328940 23328940 G A snp 1700.77 1/1 99 60 0 60 1.0 exonic rs7247102 ZNF730 AU nonsynonymous SNV NM_001277403 exon4 c.G1094A p.G365E 0.723842 0.8284 0.7668 0.8467 1 T 0.001 P -0.987 T Pathogenic 19_23406165_T->C 19 23406165 23406165 T C snp 1775.77 1/1 99 65 0 65 1.0 downstream rs2885604 ZNF724P AU 0.871206 0.876 0.8745 0.8941 Uncertain 19_23406801_G->C 19 23406801 23406801 G C snp 1030.77 1/1 75 43 0 43 1.0 ncRNA_exonic rs8110795 ZNF724P AU 0.496406 0.6627 0.4837 0.5714 Uncertain 19_23413937_A->G 19 23413937 23413937 A G snp 2846.77 1/1 99 86 0 86 1.0 ncRNA_intronic rs7256859 ZNF724P AU 0.872204 0.876 Uncertain 19_23414167_T->G 19 23414167 23414167 T G snp 3404.77 1/1 99 103 0 103 1.0 ncRNA_splicing rs4932841 ZNF724P AU 0.50639 0.6627 0.5588 0.7021 Uncertain 19_23433107_G->C 19 23433107 23433107 G C snp 2373.77 1/1 99 76 0 76 1.0 ncRNA_exonic rs10405424 ZNF724P AU 0.541134 0.6627 Uncertain 19_23558016_A->G 19 23558016 23558016 A G snp 164.9 1/1 15 5 0 5 1.0 intronic rs2885846 ZNF91 AU NM_003430 exon3 c.15362+450A>G 0.619209 0.8452 Uncertain 19_23837365_A->C 19 23837365 23837365 A C snp 3464.77 1/1 99 143 2 141 0.99 exonic rs4380159 ZNF675 AU nonsynonymous SNV NM_138330 exon4 c.T370G p.L124V 0.971246 1 0.965159 0.9908 1 1 T 0.0 P -1.008 T 0.0 T 0.0 T Pathogenic 19_23845038_T->G 19 23845038 23845038 T G snp 1353.77 1/1 96 50 0 50 1.0 intronic rs10418600 ZNF675 AU NM_138330 exon2 c.8984+27T>G 0.971246 1 0.966323 0.9912 1 Uncertain 19_23845042_T->C 19 23845042 23845042 T C snp 1279.77 1/1 90 48 0 48 1.0 intronic rs10418602 ZNF675 AU NM_138330 exon2 c.8984+31T>C 0.971246 1 0.966472 0.9912 1 Uncertain 19_23845796_A->- 19 23845796 23845796 A - indel 711.73 1/1 56 28 1 27 0.96 intronic rs398034316 ZNF675 AU NM_138330 exon3 c.9806-37delA 0.9731 0.9890 Uncertain 19_23869684_G->A 19 23869684 23869684 G A snp 1622.77 1/1 99 48 0 48 1.0 intronic rs4020520 ZNF675 AU NM_138330 exon4 c.33805-148G>A 0.973043 1 Uncertain 19_23869941_A->G 19 23869941 23869941 A G snp 2561.77 1/1 99 86 0 86 1.0 UTR5 rs2364625 ZNF675 AU 0.973043 1 Uncertain 19_23926332_G->A 19 23926332 23926332 G A snp 344.78 1/1 27 13 0 13 1.0 UTR3 rs10405811 ZNF681 AU 0.976637 1 Uncertain 19_23927252_C->T 19 23927252 23927252 C T snp 1569.77 1/1 99 44 0 44 1.0 exonic rs1818990 ZNF681 AU nonsynonymous SNV NM_138286 exon4 c.G1100A p.R367K 0.977236 1 0.974596 0.9933 1 1 T 0.0 P -0.977 T 0.001 T 0.002 T Pathogenic 19_23927468_A->G 19 23927468 23927468 A G snp 1201.77 1/1 87 43 0 43 1.0 exonic rs1818989 ZNF681 AU nonsynonymous SNV NM_138286 exon4 c.T884C p.L295S 0.977236 1 0.974396 0.9930 1 1 T 0.0 P -1.023 T 0.0 T 0.0 T Pathogenic 19_23928102_C->G 19 23928102 23928102 C G snp 1906.77 1/1 99 65 0 65 1.0 exonic rs7248674 ZNF681 AU nonsynonymous SNV NM_138286 exon4 c.G250C p.D84H 0.977236 1 0.975358 0.9932 1 0.11 T 0.002 P -1.032 T 0.633 T 0.38 P Pathogenic 19_23941339_T->C 19 23941339 23941339 T C snp 56.74 1/1 6 2 0 2 1.0 intronic rs6417219 ZNF681 AU NM_138286 exon4 c.15135-209T>C 0.977236 1 Uncertain 19_23941459_G->A 19 23941459 23941459 G A snp 4098.77 1/1 99 159 0 159 1.0 intronic rs6417220 ZNF681 AU NM_138286 exon4 c.15135-89G>A 0.977236 1 0.977442 Uncertain 19_24103102_G->A 19 24103102 24103102 G A snp 146.77 0/1 63 8 2 6 0.75 intronic rs554937563 ZNF726 AU NM_001244038 exon3 c.5088+218G>A 0.000199681 0.001 Uncertain 19_24118137_C->- 19 24118137 24118137 C - indel 1745.73 0/1 99 99 46 53 0.54 intergenic rs146318689 ZNF726 AU 0.0409345 0.0427 0.0368 0.0643 Uncertain 19_24155562_G->A 19 24155562 24155562 G A snp 46.77 0/1 72 5 2 3 0.6 intergenic rs146097222 ZNF726 AU 0.00379393 0.0159 Uncertain 19_29566954_T->G 19 29566954 29566954 T G snp 31.77 0/1 60 9 5 4 0.44 intergenic rs1549946 LINC01532 AU 0.604433 0.7262 Uncertain 19_29704002_T->C 19 29704002 29704002 T C snp 1618.77 1/1 99 60 0 60 1.0 exonic rs11666764 UQCRFS1 AU synonymous SNV NM_006003 exon1 c.A24G p.S8S 0.954673 0.999 0.9393 1 Uncertain 19_29704010_A->C 19 29704010 29704010 A C snp 1619.77 1/1 99 59 0 59 1.0 exonic rs8100724 UQCRFS1 AU nonsynonymous SNV NM_006003 exon1 c.T16G p.S6A 0.953874 0.999 0.9388 1 1 T 0.0 P -0.993 T 0.0 T 0.0 T Pathogenic 19_29704164_T->C 19 29704164 29704164 T C snp 182.9 1/1 15 5 0 5 1.0 upstream rs7249757 UQCRFS1 AU 0.954872 0.999 Uncertain 19_30017670_G->A 19 30017670 30017670 G A snp 1338.77 0/1 99 111 55 56 0.5 intronic rs114569666 VSTM2B AU NM_001146339 exon1 c.82+98G>A 0.0527157 0.0813 Uncertain 19_30018310_G->A 19 30018310 30018310 G A snp 701.77 0/1 99 52 28 24 0.46 intronic rs116929416 VSTM2B AU NM_001146339 exon2 c.812+8G>A 0.0175719 0.0804 0.0052 0.0842 Uncertain 19_30018369_A->G 19 30018369 30018369 A G snp 96.77 0/1 99 9 5 4 0.44 intronic rs35089309 VSTM2B AU NM_001146339 exon2 c.812+67A>G 0.385184 0.4841 Uncertain 19_30019505_C->T 19 30019505 30019505 C T snp 544.77 0/1 99 34 17 17 0.5 intronic rs35111102 VSTM2B AU NM_001146339 exon3 c.1879+136C>T 0.107029 0.0804 Uncertain 19_30020678_T->C 19 30020678 30020678 T C snp 1523.77 0/1 99 105 45 60 0.57 intronic rs35700860 VSTM2B AU NM_001146339 exon4 c.3235-47T>C 0.417732 0.5079 0.340132 0.3673 0.5171 Uncertain 19_30021094_G->C 19 30021094 30021094 G C snp 1452.77 0/1 99 113 48 65 0.58 exonic rs115230064 VSTM2B AU synonymous SNV NM_001146339 exon4 c.G666C p.S222S 0.0567093 0.0813 0.0065 0.0615 Uncertain 19_30097268_C->G 19 30097268 30097268 C G snp 2365.77 1/1 99 92 0 92 1.0 intronic rs2303754 POP4 AU NM_006627 exon1 c.7+36C>G 0.563099 0.7341 0.482080 0.5415 0.7448 Uncertain 19_30099457_A->G 19 30099457 30099457 A G snp 2482.77 1/1 99 88 0 88 1.0 intronic rs1465585 POP4 AU NM_006627 exon2 c.2338-106A>G 0.859425 0.8343 Uncertain 19_30101297_C->- 19 30101297 30101297 C - indel 118.73 0/1 99 12 7 5 0.42 intronic rs138780952 POP4 AU NM_006627 exon3 c.4090-18delC 0.001103 0.0176 0.2734 Uncertain 19_30102612_C->T 19 30102612 30102612 C T snp 559.77 0/1 99 39 18 21 0.54 intronic rs76775254 POP4 AU NM_006627 exon4 c.5543-156C>T 0.0447284 0.1667 Uncertain 19_30103153_A->G 19 30103153 30103153 A G snp 1792.77 1/1 99 49 0 49 1.0 intronic rs4804893 POP4 AU NM_006627 exon5 c.5860+68A>G 0.564297 0.7371 0.464301 Uncertain 19_30103158_G->A 19 30103158 30103158 G A snp 743.77 0/1 99 40 17 23 0.57 intronic rs12608816 POP4 AU NM_006627 exon5 c.5860+73G>A 0.0449281 0.1667 Uncertain 19_30156341_C->T 19 30156341 30156341 C T snp 168.9 1/1 15 5 0 5 1.0 UTR5 rs7252214 PLEKHF1 AU 0.455871 0.4206 Uncertain 19_30193535_G->A 19 30193535 30193535 G A snp 135.03 1/1 12 4 0 4 1.0 UTR3 rs117867574 C19orf12 AR 0.0217652 0.0913 0.0144 0.0917 Uncertain 19_30193653_T->G 19 30193653 30193653 T G snp 3376.77 1/1 99 117 0 117 1.0 exonic rs79915936 C19orf12 AR nonsynonymous SNV NM_001031726 exon3 c.A425C p.K142T 0.0241613 0.1032 0.000615 0.0142 0.0983 0.02 T 0.988 D -0.910 T 0.499 P 0.153 P CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000116508.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 19_30303714_-->C 19 30303714 30303714 - C indel 1924.73 0/1 99 139 61 78 0.56 intronic rs3218029 CCNE1 AU NM_001238 exon3 c.221+31insC 0.617612 0.5238 0.6464 0.5318 Uncertain 19_30311542_-->T 19 30311542 30311542 - T indel 454.73 1/1 60 25 0 25 1.0 intronic rs34022336 CCNE1 AU NM_001238 exon7 c.8146-66insT 0.392971 0.4554 Uncertain 19_30314459_A->G 19 30314459 30314459 A G snp 208.84 1/1 18 10 0 10 1.0 intronic rs4805483 CCNE1 AU NM_001238 exon12 c.11099-102A>G 0.184704 0.2609 Uncertain 19_30433668_C->T 19 30433668 30433668 C T snp 949.77 1/1 69 33 0 33 1.0 intronic rs1990903 URI1 AU NM_003796 exon1 c.117+97C>T 0.770966 0.7738 Uncertain 19_30500119_TGA->- 19 30500119 30500121 TGA - indel 11441.7 1/1 99 248 1 247 1.0 exonic rs3840928 URI1 AU nonframeshift deletion NM_001252641 exon8 c.840_842del p.280_281del 0.75619 0.748 0.8135 0.7266 ID=COSM994409;OCCURENCE=1(liver),1(endometrium) Uncertain 19_30934385_G->C 19 30934385 30934385 G C snp 32.77 0/1 61 7 5 2 0.29 intronic rs10411126 ZNF536 AU 0.635583 0.4494 Uncertain 19_31038995_T->C 19 31038995 31038995 T C snp 2287.77 0/1 99 200 106 94 0.47 exonic rs1469705 ZNF536 AU synonymous SNV NM_014717 exon4 c.T2469C p.D823D 0.377796 0.3185 0.343303 0.3223 0.3450 Uncertain 19_31048232_G->A 19 31048232 31048232 G A snp 576.77 0/1 99 49 26 23 0.47 UTR3 rs12489 ZNF536 AU 0.238818 0.3194 Uncertain 19_31768416_A->G 19 31768416 31768416 A G snp 1879.77 0/1 99 157 80 77 0.49 exonic rs3745784 TSHZ3 AU synonymous SNV NM_020856 exon2 c.T2283C p.A761A 0.311102 0.249 0.264647 0.2030 0.2859 Uncertain 19_31769763_G->A 19 31769763 31769763 G A snp 1770.77 0/1 99 179 108 71 0.4 exonic rs12461253 TSHZ3 AU synonymous SNV NM_020856 exon2 c.C936T p.V312V 0.35004 0.5734 0.269107 0.3156 0.5702 Uncertain 19_31770009_C->T 19 31770009 31770009 C T snp 3125.77 0/1 99 250 131 119 0.48 exonic rs28609894 TSHZ3 AU synonymous SNV NM_020856 exon2 c.G690A p.T230T 0.314696 0.2331 0.283408 0.2503 0.2191 Uncertain 19_31840191_G->- 19 31840191 31840191 G - indel 962.73 1/1 78 30 0 30 1.0 upstream rs71173962 TSHZ3 AU 0.993871 Uncertain 19_31930388_A->T 19 31930388 31930388 A T snp 1028.77 0/1 99 72 32 40 0.56 intergenic rs8103449 TSHZ3 AU 0.63139 0.4365 Uncertain 19_31930591_GAG->- 19 31930591 31930593 GAG - indel 1769.73 0/1 99 54 20 34 0.63 intergenic rs759075350 TSHZ3 AU Uncertain 19_31930594_-->T 19 31930594 31930594 - T indel 1145.73 0/1 99 52 21 31 0.6 intergenic rs374366482 TSHZ3 AU Uncertain 19_32083696_T->C 19 32083696 32083696 T C snp 7552.77 1/1 99 250 0 250 1.0 exonic rs7245697 THEG5 AU synonymous SNV NM_001205273 exon2 c.T198C p.T66T 0.983626 0.998 0.9792 1 Uncertain 19_32873698_A->G 19 32873698 32873698 A G snp 2102.77 0/1 99 139 63 76 0.55 exonic rs2270399 ZNF507 AU synonymous SNV NM_014910 exon6 c.A2571G p.S857S 0.911741 0.8234 0.925265 0.8988 0.8173 Uncertain 19_32923539_A->G 19 32923539 32923539 A G snp 428.77 0/1 99 40 20 20 0.5 intronic rs2287294 DPY19L3 AU NM_001172774 exon4 c.24462-82A>G 0.260383 0.4653 Uncertain 19_32930069_G->A 19 32930069 32930069 G A snp 3233.06 0/1 99 249 108 141 0.57 exonic rs6510249 DPY19L3 AU synonymous SNV NM_001172774 exon7 c.G648A p.A216A 0.546725 0.6399 0.568584 0.5811 0.6307 Uncertain 19_32954725_G->A 19 32954725 32954725 G A snp 873.77 0/1 99 93 55 38 0.41 intronic rs1544511 DPY19L3 AU NM_001172774 exon14 c.55615-49G>A 0.550319 0.6399 0.570352 0.5845 0.6312 Uncertain 19_32959551_G->A 19 32959551 32959551 G A snp 485.77 0/1 99 42 22 20 0.48 intronic rs79236931 DPY19L3 AU NM_001172774 exon16 c.60477-85G>A 0.0315495 0.0139 Uncertain 19_33072069_G->A 19 33072069 33072069 G A snp 759.77 1/1 54 31 0 31 1.0 upstream rs10402931 PDCD5 AU 0.848442 0.9087 ID=CR055628;DIS=Chronic myelogenous leukemia, association with;TAG=DFP;PUB=16361542 DFP Uncertain 19_33072085_A->G 19 33072085 33072085 A G snp 1052.77 1/1 75 40 0 40 1.0 upstream rs10405535 PDCD5 AU 0.848642 0.9087 ID=CR055629;DIS=Chronic myelogenous leukemia, association with;TAG=DFP;PUB=16361542 DFP Uncertain 19_33072266_T->C 19 33072266 33072266 T C snp 1335.77 1/1 93 59 0 59 1.0 intronic rs10411464 PDCD5 AU NM_004708 exon1 c.66+33T>C 0.960863 1 0.934712 0.9115 1 Uncertain 19_33106742_A->G 19 33106742 33106742 A G snp 1409.77 0/1 99 127 65 62 0.49 intronic rs395136 ANKRD27 AU NM_032139 exon8 c.17636+56A>G 0.426717 0.4841 Uncertain 19_33106761_A->G 19 33106761 33106761 A G snp 1223.77 0/1 99 109 58 51 0.47 intronic rs414496 ANKRD27 AU NM_032139 exon8 c.17636+75A>G 0.423922 0.4841 Uncertain 19_33117666_T->C 19 33117666 33117666 T C snp 1433.77 0/1 99 110 51 59 0.54 exonic rs6510271 ANKRD27 AU synonymous SNV NM_032139 exon16 c.A1488G p.G496G 0.651957 0.6528 0.659157 0.6438 0.6931 Uncertain 19_33117842_C->A 19 33117842 33117842 C A snp 876.77 0/1 99 75 43 32 0.43 intronic rs6510272 ANKRD27 AU NM_032139 exon14 c.28683+109C>A 0.688698 0.6528 Uncertain 19_33117884_T->C 19 33117884 33117884 T C snp 395.77 0/1 99 34 21 13 0.38 intronic rs6510273 ANKRD27 AU NM_032139 exon14 c.28683+151T>C 0.483826 0.3313 Uncertain 19_33119883_A->G 19 33119883 33119883 A G snp 59.77 0/1 88 7 4 3 0.43 intronic rs6510274 ANKRD27 AU NM_032139 exon16 c.30705+128A>G 0.688498 0.6528 Uncertain 19_33130496_T->C 19 33130496 33130496 T C snp 537.77 0/1 99 37 19 18 0.49 intronic rs11084666 ANKRD27 AU NM_032139 exon18 c.41344+102T>C 0.701877 0.6518 Uncertain 19_33131112_G->A 19 33131112 33131112 G A snp 570.77 0/1 99 40 20 20 0.5 intronic rs3760943 ANKRD27 AU NM_032139 exon19 c.42162-100G>A 0.305911 0.2331 Uncertain 19_33131336_T->C 19 33131336 33131336 T C snp 6368.77 1/1 99 218 1 217 1.0 intronic rs10416829 ANKRD27 AU NM_032139 exon19 c.42241+45T>C 0.696086 0.6716 0.715977 0.6571 0.7087 Uncertain 19_33133937_G->- 19 33133937 33133937 G - indel 411.73 0/1 99 32 20 12 0.38 intronic rs3841621 ANKRD27 AU NM_032139 exon21 c.44978-91delG 0.370208 0.252 Uncertain 19_33134425_G->A 19 33134425 33134425 G A snp 1735.77 0/1 99 133 68 65 0.49 intronic rs259229 ANKRD27 AU NM_032139 exon23 c.45340+35G>A 0.370008 0.252 0.504998 0.5346 0.2664 Uncertain 19_33134635_A->G 19 33134635 33134635 A G snp 185.77 0/1 99 15 8 7 0.47 intronic rs259228 ANKRD27 AU NM_032139 exon24 c.45487+98A>G 0.754992 0.6706 Uncertain 19_33135458_C->T 19 33135458 33135458 C T snp 632.77 0/1 99 35 13 22 0.63 intronic rs259225 ANKRD27 AU NM_032139 exon25 c.46335+73C>T 0.763179 0.6706 Uncertain 19_33137337_G->T 19 33137337 33137337 G T snp 1163.77 0/1 99 81 38 43 0.53 intronic rs74776662 ANKRD27 AU NM_032139 exon26 c.48314-27G>T 0.0660942 0.1855 0.027910 0.0513 0.2113 Uncertain 19_33137629_T->A 19 33137629 33137629 T A snp 667.77 0/1 99 34 11 23 0.68 intronic rs259220 ANKRD27 AU NM_032139 exon26 c.48471+108T>A 0.755192 0.6706 Uncertain 19_33149768_G->A 19 33149768 33149768 G A snp 416.77 0/1 99 41 26 15 0.37 intronic rs259251 ANKRD27 AU NM_032139 exon28 c.60769-51G>A 0.373602 0.252 0.526160 Uncertain 19_33167455_G->T 19 33167455 33167455 G T snp 794.77 0/1 99 99 63 36 0.36 exonic rs259290 RGS9BP AU nonsynonymous SNV NM_207391 exon1 c.G286T p.A96S 0.434904 0.2579 0.655237 0.5674 0.2772 0.21 T 1.000 P -1.054 T 0.951 T 0.638 D CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000082841.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 19_33167879_G->A 19 33167879 33167879 G A snp 334.77 0/1 99 30 16 14 0.47 UTR3 rs259291 RGS9BP AU 0.53734 0.3085 0.693629 0.6259 0.3470 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000153842.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 19_33182802_C->T 19 33182802 33182802 C T snp 119.78 0/1 27 6 1 5 0.83 upstream rs8108837 NUDT19 AU 0.242212 0.249 Uncertain 19_33183291_G->A 19 33183291 33183291 G A snp 2882.77 0/1 99 240 124 116 0.48 exonic rs8108621 NUDT19 AU nonsynonymous SNV NM_001105570 exon1 c.G425A p.R142Q 0.187101 0.2123 0.180844 0.2019 0.2289 0.48 T 0.210 P -1.058 T 0.922 T 0.336 D ID=CM1212335;DIS=Mean cell volume, association with;TAG=DP;PUB=23222517 DP Pathogenic 19_33183316_A->G 19 33183316 33183316 A G snp 2911.77 0/1 99 232 116 116 0.5 exonic rs8109823 NUDT19 AU synonymous SNV NM_001105570 exon1 c.A450G p.P150P 0.175919 0.2153 0.137937 0.1877 0.2167 Uncertain 19_33183352_G->C 19 33183352 33183352 G C snp 1881.77 0/1 99 135 71 64 0.47 exonic rs61732600 NUDT19 AU synonymous SNV NM_001105570 exon1 c.G486C p.P162P 0.221446 0.249 0.220558 0.3202 0.3633 Uncertain 19_33211069_C->T 19 33211069 33211069 C T snp 287.78 1/1 24 9 0 9 1.0 intronic rs13346373 TDRD12 AU NM_001110822 exon1 c.24+67C>T Uncertain 19_33239450_C->G 19 33239450 33239450 C G snp 4283.77 1/1 99 142 0 142 1.0 intronic rs4805805 TDRD12 AU NM_001110822 exon5 c.28459+13C>G 0.545554 0.5530 0.8013 Uncertain 19_33240570_G->A 19 33240570 33240570 G A snp 1623.77 1/1 99 54 0 54 1.0 intronic rs9783983 TDRD12 AU NM_001110822 exon6 c.29711-119G>A 0.478634 0.4702 Uncertain 19_33264348_G->T 19 33264348 33264348 G T snp 4886.77 1/1 99 187 0 187 1.0 intronic rs12608647 TDRD12 AU NM_001110822 exon10 c.53383-13G>T 0.650559 0.8115 0.581910 0.5681 0.8093 Uncertain 19_33281924_A->G 19 33281924 33281924 A G snp 3500.77 1/1 99 129 1 128 0.99 downstream rs11881633 TDRD12 AU 0.646765 0.8115 0.5613 0.8724 1 T 1.000 P -0.954 T 0.0 T 0.0 T Uncertain 19_33282109_C->T 19 33282109 33282109 C T snp 582.77 1/1 45 17 0 17 1.0 downstream rs11878874 TDRD12 AU 0.502796 0.5675 Uncertain 19_33289463_T->C 19 33289463 33289463 T C snp 242.77 0/1 99 14 4 10 0.71 intergenic rs4805811 TDRD12 AU 0.171326 0.247 Uncertain 19_33292568_A->T 19 33292568 33292568 A T snp 2216.77 1/1 99 79 0 79 1.0 intergenic rs12976876 TDRD12 AU 0.629792 0.8115 Uncertain 19_33292897_C->G 19 33292897 33292897 C G snp 54.74 1/1 6 2 0 2 1.0 intergenic rs35241694 TDRD12 AU 0.646765 0.8115 Uncertain 19_33293948_G->A 19 33293948 33293948 G A snp 1450.77 0/1 99 116 56 60 0.52 intergenic rs35110475 TDRD12 AU 0.171126 0.246 0.1655 0.2374 0.07 T 0.000 P -0.962 T 0.342 T 0.028 T Uncertain 19_33294082_G->A 19 33294082 33294082 G A snp 2500.77 1/1 99 91 0 91 1.0 intergenic rs10404371 TDRD12 AU 0.418131 0.4722 0.4259 0.5328 Uncertain 19_33304690_C->T 19 33304690 33304690 C T snp 1584.77 1/1 99 57 0 57 1.0 intergenic rs8107900 TDRD12 AU 0.647165 0.8115 0.5580 0.8724 Uncertain 19_33304712_TTTG->- 19 33304712 33304715 TTTG - indel 929.73 0/1 99 47 26 21 0.45 intergenic rs57367562 TDRD12 AU 0.247804 0.2262 0.2248 0.2222 Uncertain 19_33304717_T->C 19 33304717 33304717 T C snp 316.77 0/1 99 40 23 17 0.42 intergenic rs61062732 TDRD12 AU 0.247804 0.2262 0.2285 0.2268 Uncertain 19_33308825_G->- 19 33308825 33308825 G - indel 917.73 0/1 99 48 22 26 0.54 intergenic rs34549089 TDRD12 AU 0.247204 0.2262 Uncertain 19_33316928_-->TA 19 33316928 33316928 - TA indel 1346.73 1/1 93 31 0 31 1.0 intergenic rs140235732 TDRD12 AU 0.538738 0.7014 Uncertain 19_33317307_T->C 19 33317307 33317307 T C snp 141.03 1/1 12 4 0 4 1.0 intergenic rs3746022 TDRD12 AU 0.660743 0.8135 Uncertain 19_33321447_A->G 19 33321447 33321447 A G snp 163.77 0/1 99 13 5 8 0.62 UTR3 rs2287884 SLC7A9 AR,AD 0.17492 0.2143 Uncertain 19_33321717_-->GG 19 33321717 33321717 - GG indel 3106.73 1/1 99 64 0 64 1.0 intronic rs10645053 SLC7A9 AR,AD NM_001243036 exon1 c.65+127insGG Uncertain 19_33332952_C->T 19 33332952 33332952 C T snp 542.77 0/1 99 38 20 18 0.47 intronic rs2287882 SLC7A9 AR,AD NM_001243036 exon3 c.11548-121C>T 0.171526 0.2212 Uncertain 19_33333155_G->A 19 33333155 33333155 G A snp 1714.77 0/1 99 129 57 72 0.56 exonic rs2287881 SLC7A9 AR,AD synonymous SNV NM_014270 exon11 c.C1143T p.A381A 0.248203 0.2321 0.234507 0.2059 0.1902 Uncertain 19_33334978_G->A 19 33334978 33334978 G A snp 90.28 1/1 9 3 0 3 1.0 intronic rs1559225 SLC7A9 AR,AD NM_001243036 exon4 c.13332+121G>A 0.227636 0.4752 Uncertain 19_33349488_T->C 19 33349488 33349488 T C snp 1676.77 1/1 99 58 0 58 1.0 intronic rs2287879 SLC7A9 AR,AD NM_001243036 exon5 c.27924+39T>C 0.767772 0.8512 0.715747 0.6630 0.8740 Uncertain 19_33351695_T->C 19 33351695 33351695 T C snp 106.77 0/1 99 9 5 4 0.44 intronic rs2287878 SLC7A9 AR,AD NM_001243036 exon7 c.30031+139T>C 0.35643 0.3581 Uncertain 19_33353041_G->A 19 33353041 33353041 G A snp 210.77 0/1 99 30 20 10 0.33 exonic rs1007161 SLC7A9 AR,AD synonymous SNV NM_014270 exon6 c.C687T p.L229L 0.278155 0.3046 0.329771 0.2973 0.2761 Uncertain 19_33353061_G->T 19 33353061 33353061 G T snp 364.77 0/1 99 45 28 17 0.38 exonic rs1007160 SLC7A9 AR,AD nonsynonymous SNV NM_014270 exon6 c.C667A p.L223M 0.278155 0.3046 0.329694 0.2971 0.2758 0.07 T 1.000 P -1.186 T 0.771 T 0.574 P Pathogenic 19_33353343_A->G 19 33353343 33353343 A G snp 595.77 0/1 99 50 26 24 0.48 intronic rs11084671 SLC7A9 AR,AD NM_001243036 exon9 c.31841-23A>G 0.280152 0.3046 0.331693 0.3004 0.2771 Uncertain 19_33353464_G->A 19 33353464 33353464 G A snp 922.77 0/1 99 79 36 43 0.54 exonic rs11084673 SLC7A9 AR,AD synonymous SNV NM_014270 exon5 c.C507T p.S169S 0.279952 0.3046 0.333692 0.3005 0.2767 Uncertain 19_33355055_A->G 19 33355055 33355055 A G snp 1569.77 0/1 99 112 46 66 0.59 exonic rs12150889 SLC7A9 AR,AD nonsynonymous SNV NM_014270 exon4 c.T425C p.V142A 0.30611 0.3036 0.357143 0.3098 0.2765 0.11 T 0.0 P -1.036 T 0.0 T 0.0 T Pathogenic 19_33355081_G->A 19 33355081 33355081 G A snp 1852.77 0/1 99 143 62 81 0.57 exonic rs35170371 SLC7A9 AR,AD synonymous SNV NM_014270 exon4 c.C399T p.S133S 0.211462 0.1994 0.230740 0.1942 0.1661 Uncertain 19_33355513_A->C 19 33355513 33355513 A C snp 1005.77 0/1 99 71 33 38 0.54 intronic rs12150904 SLC7A9 AR,AD NM_001243036 exon11 c.34009-21A>C 0.286941 0.3006 0.336537 0.3048 0.2742 Uncertain 19_33359240_A->G 19 33359240 33359240 A G snp 177.77 0/1 99 15 9 6 0.4 intronic rs17238872 SLC7A9 AR,AD NM_001243036 exon12 c.37828-113A>G 0.293131 0.4812 Uncertain 19_33390796_G->A 19 33390796 33390796 G A snp 6623.77 1/1 99 249 0 249 1.0 exonic rs10418340 CEP89 AU synonymous SNV NM_032816 exon16 c.C1842T p.N614N 0.930112 0.8988 0.896894 0.8949 0.8920 Uncertain 19_33392087_C->T 19 33392087 33392087 C T snp 984.77 0/1 99 84 46 38 0.45 intronic rs7253415 CEP89 AU NM_032816 exon5 c.22083-63C>T 0.313898 0.1984 Uncertain 19_33392490_C->T 19 33392490 33392490 C T snp 267.77 0/1 83 13 3 10 0.77 intronic rs7253956 CEP89 AU NM_032816 exon5 c.22251+172C>T 0.313898 0.1984 Uncertain 19_33406442_A->G 19 33406442 33406442 A G snp 2426.77 1/1 99 87 0 87 1.0 intronic rs7246178 CEP89 AU NM_032816 exon6 c.36356+19A>G 0.930911 0.9018 0.896817 0.8952 0.8924 Uncertain 19_33406484_G->T 19 33406484 33406484 G T snp 1862.77 1/1 99 69 0 69 1.0 intronic rs7260149 CEP89 AU NM_032816 exon6 c.36356+61G>T 0.930911 0.9018 Uncertain 19_33406493_G->C 19 33406493 33406493 G C snp 836.77 0/1 99 63 28 35 0.56 intronic rs35219657 CEP89 AU NM_032816 exon6 c.36356+70G>C 0.266174 0.503 Uncertain 19_33406549_A->G 19 33406549 33406549 A G snp 737.77 1/1 54 23 0 23 1.0 intronic rs7246326 CEP89 AU NM_032816 exon6 c.36356+126A>G 0.930911 0.9018 Uncertain 19_33409049_C->- 19 33409049 33409049 C - indel 177.73 0/1 99 11 4 7 0.64 intronic rs59487918 CEP89 AU NM_032816 exon7 c.39062-80delC 0.263978 0.498 Uncertain 19_33409054_G->A 19 33409054 33409054 G A snp 202.77 0/1 99 12 4 8 0.67 intronic rs2278402 CEP89 AU NM_032816 exon7 c.39062-75G>A 0.29393 0.503 Uncertain 19_33409061_G->C 19 33409061 33409061 G C snp 279.77 0/1 99 15 5 10 0.67 intronic rs2278403 CEP89 AU NM_032816 exon7 c.39062-68G>C 0.354034 0.5565 Uncertain 19_33409413_G->T 19 33409413 33409413 G T snp 462.77 0/1 99 41 25 16 0.39 intronic rs2278404 CEP89 AU NM_032816 exon7 c.39178+168G>T 0.354433 0.5565 Uncertain 19_33414420_A->G 19 33414420 33414420 A G snp 2892.77 0/1 99 249 122 127 0.51 exonic rs4805825 CEP89 AU nonsynonymous SNV NM_032816 exon12 c.T1193C p.V398A 0.288738 0.501 0.203245 0.2319 0.5321 0.32 T 1.000 P -0.927 T 0.006 T 0.009 T Pathogenic 19_33417313_T->C 19 33417313 33417313 T C snp 80.78 0/1 24 4 1 3 0.75 intronic rs3813152 CEP89 AU NM_032816 exon9 c.47112+134T>C 0.930511 0.8988 Uncertain 19_33428423_G->T 19 33428423 33428423 G T snp 121.77 0/1 99 9 4 5 0.56 intronic rs2304100 CEP89 AU NM_032816 exon13 c.58469-113G>T 0.382188 0.3988 0.3827 0.4409 Uncertain 19_33430816_T->G 19 33430816 33430816 T G snp 1076.77 1/1 78 45 0 45 1.0 intronic rs12461782 CEP89 AU NM_032816 exon14 c.60724+25T>G 0.574281 0.5982 0.545002 0.5682 0.5997 Uncertain 19_33439158_T->C 19 33439158 33439158 T C snp 322.78 1/1 24 15 0 15 1.0 intronic rs12710001 CEP89 AU NM_032816 exon15 c.69104-13T>C 0.930312 0.9008 0.894429 0.9032 0.9048 Uncertain 19_33439187_G->A 19 33439187 33439187 G A snp 232.77 0/1 99 25 14 11 0.44 exonic rs3764633 CEP89 AU nonsynonymous SNV NM_032816 exon5 c.C580T p.R194W 0.189696 0.1984 0.199600 0.1860 0.1703 0.06 T 0.0 P -1.042 T 0.002 T 0.001 T Pathogenic 19_33444313_A->C 19 33444313 33444313 A C snp 372.77 1/1 30 11 0 11 1.0 intronic rs74766728 CEP89 AU NM_032816 exon16 c.74453-207A>C Uncertain 19_33444318_T->C 19 33444318 33444318 T C snp 452.77 0/1 31 16 2 14 0.88 intronic rs74343533 CEP89 AU NM_032816 exon16 c.74453-202T>C Uncertain 19_33444331_A->T 19 33444331 33444331 A T snp 662.77 0/1 99 26 5 21 0.81 intronic rs62125053 CEP89 AU NM_032816 exon16 c.74453-189A>T Uncertain 19_33444347_TA->- 19 33444347 33444348 TA - indel 1220.73 0/1 99 37 10 27 0.73 intronic rs10555748 CEP89 AU NM_032816 exon16 c.74453-173_74453-172delTA Uncertain 19_33444453_T->G 19 33444453 33444453 T G snp 5132.77 0/1 99 250 72 178 0.71 intronic rs75223967 CEP89 AU NM_032816 exon16 c.74453-67T>G Uncertain 19_33444456_A->G 19 33444456 33444456 A G snp 3534.77 0/1 99 250 120 130 0.52 intronic rs2944021 CEP89 AU NM_032816 exon16 c.74453-64A>G 0.183906 0.3006 Uncertain 19_33444479_C->T 19 33444479 33444479 C T snp 282.77 0/1 99 250 219 31 0.12 intronic rs79480383 CEP89 AU NM_032816 exon16 c.74453-41C>T 0.4155 0.4072 Uncertain 19_33444511_T->C 19 33444511 33444511 T C snp 5186.77 0/1 99 249 77 172 0.69 intronic rs80283382 CEP89 AU NM_032816 exon16 c.74453-9T>C 0.4717 0.4965 Uncertain 19_33444519_A->G 19 33444519 33444519 A G snp 553.77 0/1 99 250 211 39 0.16 splicing rs146108457 CEP89 AU NM_032816 exon16 c.74453-1A>G 0.059588 0.1750 0.3609 1 D Pathogenic 19_33444556_T->C 19 33444556 33444556 T C snp 4192.77 0/1 99 247 93 154 0.62 exonic rs73579706 CEP89 AU nonsynonymous SNV NM_032816 exon4 c.A457G p.S153G 0.4145 0.4650 0.39 T 1 N -0.982 T 0.005 T 0.003 T Pathogenic 19_33444576_C->T 19 33444576 33444576 C T snp 3836.77 0/1 99 242 95 147 0.61 exonic rs74504201 CEP89 AU nonsynonymous SNV NM_032816 exon4 c.G437A p.R146Q 0.4009 0.4342 0.61 T 1 N -1.010 T 0.033 T 0.001 T Pathogenic 19_33444588_T->G 19 33444588 33444588 T G snp 3717.77 0/1 99 235 98 137 0.58 exonic rs73035551 CEP89 AU nonsynonymous SNV NM_032816 exon4 c.A425C p.D142A 0.3905 0.4314 0.43 T 1 N -1.057 T 0.949 T 0.415 D Pathogenic 19_33444707_C->T 19 33444707 33444707 C T snp 474.77 0/1 99 37 13 24 0.65 exonic rs10411735 CEP89 AU synonymous SNV NM_032816 exon4 c.G306A p.R102R 0.398363 0.3958 0.350069 0.3784 0.4219 Uncertain 19_33462564_-->A 19 33462564 33462564 - A indel 233.73 0/1 99 30 16 14 0.47 intronic rs374834540 CEP89 AU NM_032816 exon19 c.92674-177insA Uncertain 19_33462848_A->G 19 33462848 33462848 A G snp 597.77 0/1 99 60 32 28 0.47 UTR5 rs3764636 CEP89 AU 0.00878594 0.0437 Uncertain 19_33462938_C->T 19 33462938 33462938 C T snp 222.77 0/1 99 12 5 7 0.58 upstream rs751732 C19orf40 AU 0.139577 0.2708 Uncertain 19_33464048_A->G 19 33464048 33464048 A G snp 54.74 1/1 6 2 0 2 1.0 intronic rs7245980 C19orf40 AU 0.933506 0.9236 Uncertain 19_33467357_G->A 19 33467357 33467357 G A snp 1028.77 0/1 99 115 71 44 0.38 exonic rs2304102 C19orf40 AU synonymous SNV NM_001300978 exon3 c.G132A p.E44E 0.423922 0.4365 0.378210 0.4029 0.4562 Uncertain 19_33467620_T->C 19 33467620 33467620 T C snp 756.77 1/1 57 22 0 22 1.0 UTR3 rs7247715 C19orf40 AU 0.936701 0.9385 0.892896 0.8929 0.9406 Uncertain 19_33470874_A->G 19 33470874 33470874 A G snp 1426.77 0/1 99 101 44 57 0.56 UTR3 rs8099835 RHPN2 AU 0.658347 0.5446 0.662002 0.6056 0.5551 Uncertain 19_33471279_C->T 19 33471279 33471279 C T snp 113.77 0/1 99 10 6 4 0.4 intronic rs12971408 RHPN2 AU NM_033103 exon1 c.261+117C>T 0.135982 0.245 Uncertain 19_33481388_C->T 19 33481388 33481388 C T snp 2051.77 1/1 99 69 0 69 1.0 intronic rs7250684 RHPN2 AU NM_033103 exon2 c.10518-31C>T 0.809904 0.6915 0.805628 0.7578 0.7025 Uncertain 19_33484776_G->T 19 33484776 33484776 G T snp 1063.77 0/1 99 75 31 44 0.59 intronic rs28370302 RHPN2 AU NM_033103 exon4 c.13981-106G>T 0.138578 0.1438 Uncertain 19_33486803_A->G 19 33486803 33486803 A G snp 531.77 1/1 42 16 0 16 1.0 intronic rs4805843 RHPN2 AU NM_033103 exon5 c.16030-128A>G 0.96905 0.999 Uncertain 19_33486810_A->G 19 33486810 33486810 A G snp 754.77 1/1 57 22 0 22 1.0 intronic rs4805026 RHPN2 AU NM_033103 exon5 c.16030-121A>G 0.96905 0.999 Uncertain 19_33486822_T->C 19 33486822 33486822 T C snp 820.77 1/1 60 28 0 28 1.0 intronic rs8110267 RHPN2 AU NM_033103 exon5 c.16030-109T>C 0.814896 0.6935 Uncertain 19_33486845_G->A 19 33486845 33486845 G A snp 667.77 0/1 99 48 21 27 0.56 intronic rs35671943 RHPN2 AU NM_033103 exon5 c.16030-86G>A 0.128594 0.1438 Uncertain 19_33487071_G->C 19 33487071 33487071 G C snp 4808.77 1/1 99 175 0 175 1.0 exonic rs12610600 RHPN2 AU synonymous SNV NM_033103 exon11 c.C1281G p.A427A 0.591853 0.6032 0.583807 0.5034 0.6138 Uncertain 19_33487182_A->G 19 33487182 33487182 A G snp 1985.77 1/1 99 65 0 65 1.0 intronic rs11084689 RHPN2 AU NM_033103 exon5 c.16225+56A>G 0.814297 0.6935 Uncertain 19_33487251_T->C 19 33487251 33487251 T C snp 297.78 1/1 24 8 0 8 1.0 intronic rs8110730 RHPN2 AU NM_033103 exon5 c.16225+125T>C 0.813498 0.6935 Uncertain 19_33490429_G->T 19 33490429 33490429 G T snp 227.77 0/1 99 34 16 18 0.53 intronic rs747647468 RHPN2 AU NM_033103 exon6 c.19590-62G>T Uncertain 19_33490442_C->T 19 33490442 33490442 C T snp 412.77 0/1 99 42 17 25 0.6 intronic rs760181696 RHPN2 AU NM_033103 exon6 c.19590-49C>T 0.1752 0.1162 Uncertain 19_33490462_G->A 19 33490462 33490462 G A snp 671.77 0/1 99 55 21 34 0.62 intronic rs772792982 RHPN2 AU NM_033103 exon6 c.19590-29G>A 0.3889 0.3300 Uncertain 19_33490480_G->A 19 33490480 33490480 G A snp 895.77 0/1 99 78 32 46 0.59 intronic rs74603434 RHPN2 AU NM_033103 exon6 c.19590-11G>A 0.4204 0.3784 Uncertain 19_33490488_G->A 19 33490488 33490488 G A snp 223.77 0/1 99 92 79 13 0.14 splicing rs12608926 RHPN2 AU NM_033103 exon6 c.19590-3G>A 0.1767 0.1460 Pathogenic 19_33490566_T->C 19 33490566 33490566 T C snp 951.77 0/1 99 143 84 59 0.41 exonic rs201801079 RHPN2 AU nonsynonymous SNV NM_033103 exon10 c.A1151G p.Q384R 0.278155 0.2401 0.3653 0.3127 0.2 T 1.000 D -1.024 T 1.0 D 0.982 D Pathogenic 19_33490616_A->T 19 33490616 33490616 A T snp 578.77 0/1 99 118 89 29 0.25 splicing rs199764566 RHPN2 AU NM_033103 exon6 c.19710+5A>T 0.1511 0.0558 Pathogenic 19_33490650_C->T 19 33490650 33490650 C T snp 118.77 0/1 99 71 57 14 0.2 intronic rs112287343 RHPN2 AU NM_033103 exon6 c.19710+39C>T 0.0027 0.0008 Uncertain 19_33490685_T->C 19 33490685 33490685 T C snp 931.77 1/1 69 28 1 27 0.96 intronic rs8109247 RHPN2 AU NM_033103 exon6 c.19710+74T>C 0.812101 0.7063 Uncertain 19_33493334_G->A 19 33493334 33493334 G A snp 228.77 0/1 99 47 34 13 0.28 intronic rs12610963 RHPN2 AU NM_033103 exon7 c.22408+25G>A 0.252796 0.3581 0.226007 0.2497 0.3756 Uncertain 19_33498978_A->G 19 33498978 33498978 A G snp 578.77 0/1 99 44 23 21 0.48 exonic rs2163807 RHPN2 AU synonymous SNV NM_033103 exon7 c.T702C p.C234C 0.419329 0.2272 0.457628 0.4314 0.2113 Uncertain 19_33499071_G->A 19 33499071 33499071 G A snp 877.77 0/1 99 84 40 44 0.52 exonic rs10410414 RHPN2 AU synonymous SNV NM_033103 exon7 c.C609T p.T203T 0.217652 0.1796 0.183992 0.2023 0.1568 Uncertain 19_33502442_T->C 19 33502442 33502442 T C snp 96.28 1/1 9 3 0 3 1.0 intronic rs2288853 RHPN2 AU NM_033103 exon10 c.31683-142T>C 0.804113 0.6865 Uncertain 19_33502714_A->G 19 33502714 33502714 A G snp 914.77 0/1 99 68 31 37 0.54 splicing rs2288854 RHPN2 AU NM_033103 exon10 c.31808+5A>G 0.345647 0.2917 0.290635 0.2769 0.2764 Pathogenic 19_33503799_T->A 19 33503799 33503799 T A snp 113.77 0/1 99 7 3 4 0.57 intronic rs12460205 RHPN2 AU NM_033103 exon11 c.32729+169T>A 0.257987 0.3581 Uncertain 19_33512633_A->- 19 33512633 33512633 A - indel 9793.73 1/1 99 235 0 235 1.0 intronic rs34594918 RHPN2 AU NM_033103 exon12 c.41651+81delA 0.674121 0.6627 Uncertain 19_33572089_G->C 19 33572089 33572089 G C snp 809.77 0/1 99 70 33 37 0.53 UTR5 rs28372855 GPATCH1 AU 0.257388 0.3433 0.164500 0.2152 0.3612 Uncertain 19_33579128_T->C 19 33579128 33579128 T C snp 490.77 0/1 99 58 32 26 0.45 exonic rs7259333 GPATCH1 AU synonymous SNV NM_018025 exon2 c.T162C p.S54S 0.533946 0.5099 0.424189 0.3710 0.5175 Uncertain 19_33584479_G->A 19 33584479 33584479 G A snp 1249.77 0/1 99 94 43 51 0.54 intronic rs12460195 GPATCH1 AU NM_018025 exon4 c.12326+54G>A 0.533347 0.5089 Uncertain 19_33586739_G->C 19 33586739 33586739 G C snp 2945.77 0/1 99 212 84 128 0.6 intronic rs13345542 GPATCH1 AU NM_018025 exon6 c.14627+13G>C 0.533347 0.5089 0.424343 0.3707 0.5166 Uncertain 19_33587380_G->T 19 33587380 33587380 G T snp 361.77 0/1 99 36 22 14 0.39 intronic rs56261554 GPATCH1 AU NM_018025 exon7 c.15253+28G>T 0.145767 0.1468 0.094536 0.1278 0.1564 Uncertain 19_33592301_C->A 19 33592301 33592301 C A snp 211.77 0/1 99 27 18 9 0.33 intronic rs10410778 GPATCH1 AU NM_018025 exon9 c.20301-99C>A 0.533546 0.5079 Uncertain 19_33597495_C->G 19 33597495 33597495 C G snp 30.78 0/1 27 3 1 2 0.67 intronic rs35492529 GPATCH1 AU NM_018025 exon10 c.25501-105C>G 0.194089 0.3413 Uncertain 19_33597816_T->C 19 33597816 33597816 T C snp 1728.77 0/1 99 132 55 77 0.58 intronic rs10408093 GPATCH1 AU NM_018025 exon10 c.25706+11T>C 0.533546 0.5079 0.424266 0.3751 0.5208 Uncertain 19_33597930_C->A 19 33597930 33597930 C A snp 447.77 0/1 99 30 15 15 0.5 intronic rs3760893 GPATCH1 AU NM_018025 exon10 c.25706+125C>A 0.533546 0.5079 Uncertain 19_33600764_T->C 19 33600764 33600764 T C snp 2246.77 0/1 99 202 102 100 0.5 exonic rs2287679 GPATCH1 AU nonsynonymous SNV NM_018025 exon11 c.T1427C p.L476P 0.533546 0.5079 0.422882 0.3712 0.5177 0.28 T 0.011 P -0.997 T 0.0 T 0.001 T Pathogenic 19_33602757_C->T 19 33602757 33602757 C T snp 1288.77 0/1 99 99 40 59 0.6 exonic rs10420258 GPATCH1 AU synonymous SNV NM_018025 exon12 c.C1713T p.H571H 0.203474 0.3333 0.139551 0.1709 0.3642 Uncertain 19_33602881_C->T 19 33602881 33602881 C T snp 635.77 0/1 99 32 12 20 0.63 intronic rs3786933 GPATCH1 AU NM_018025 exon12 c.30709+73C>T 0.533546 0.5079 Uncertain 19_33603289_C->- 19 33603289 33603289 C - indel 1157.73 0/1 99 68 37 31 0.46 intronic rs3837972 GPATCH1 AU NM_018025 exon13 c.31292-102delC 0.238618 0.3343 Uncertain 19_33605300_A->G 19 33605300 33605300 A G snp 2804.77 0/1 99 244 128 116 0.48 exonic rs10416265 GPATCH1 AU nonsynonymous SNV NM_018025 exon15 c.A2171G p.H724R 0.592452 0.8433 0.407735 0.4063 0.8483 0.56 T 0.0 P -1.015 T 0.0 T 0.0 T Pathogenic 19_33605312_T->C 19 33605312 33605312 T C snp 6653.77 1/1 99 241 0 241 1.0 exonic rs10421769 GPATCH1 AU nonsynonymous SNV NM_018025 exon15 c.T2183C p.L728S 0.770168 0.9901 0.536060 0.5403 0.9978 0.75 T 0.0 P -0.980 T 0.001 T 0.0 T Pathogenic 19_33608733_C->A 19 33608733 33608733 C A snp 383.77 1/1 30 10 0 10 1.0 exonic rs2287681 GPATCH1 AU synonymous SNV NM_018025 exon16 c.C2199A p.T733T 0.361422 0.4831 0.250500 0.2996 0.5148 Uncertain 19_33609760_C->T 19 33609760 33609760 C T snp 83.77 0/1 30 4 1 3 0.75 intronic rs139733494 GPATCH1 AU NM_018025 exon17 c.37816-155C>T 0.000199681 Uncertain 19_33616256_T->G 19 33616256 33616256 T G snp 46.77 0/1 31 3 1 2 0.67 intronic rs10411529 GPATCH1 AU NM_018025 exon18 c.44009+148T>G 0.477037 0.505 Uncertain 19_33620897_G->A 19 33620897 33620897 G A snp 416.77 0/1 99 23 9 14 0.61 intronic rs3826906 GPATCH1 AU NM_018025 exon20 c.48936-138G>A 0.211661 0.3651 Uncertain 19_33620993_-->CC 19 33620993 33620993 - CC indel 5152.73 1/1 99 94 0 94 1.0 intronic rs35506888 GPATCH1 AU NM_018025 exon20 c.48936-42insCC 0.685304 0.629 0.537780 0.4991 0.6429 Uncertain 19_33635597_T->C 19 33635597 33635597 T C snp 234.84 0/1 18 8 1 7 0.88 intronic rs10411926 WDR88 AU NM_173479 exon3 c.12674-152T>C 0.4998 0.5258 Uncertain 19_33635761_C->T 19 33635761 33635761 C T snp 1196.77 0/1 99 116 58 58 0.5 exonic rs3848596 WDR88 AU synonymous SNV NM_173479 exon3 c.C399T p.D133D 0.511182 0.5258 0.385361 0.4337 0.5650 Uncertain 19_33635853_G->A 19 33635853 33635853 G A snp 794.77 0/1 99 84 49 35 0.42 intronic rs3848597 WDR88 AU NM_173479 exon3 c.12763+15G>A 0.511581 0.5258 0.384592 0.4463 0.5741 Uncertain 19_33635877_T->C 19 33635877 33635877 T C snp 609.77 0/1 99 61 36 25 0.41 intronic rs3848598 WDR88 AU NM_173479 exon3 c.12763+39T>C 0.512181 0.5248 0.385899 0.4434 0.5714 Uncertain 19_33635887_T->G 19 33635887 33635887 T G snp 1555.77 1/1 99 51 0 51 1.0 intronic rs3848599 WDR88 AU NM_173479 exon3 c.12763+49T>G 0.686302 0.5933 0.543749 0.5076 0.6238 Uncertain 19_33635991_G->A 19 33635991 33635991 G A snp 46.77 0/1 70 7 4 3 0.43 intronic rs10410058 WDR88 AU NM_173479 exon3 c.12763+153G>A 0.511581 0.5258 Uncertain 19_33638539_T->A 19 33638539 33638539 T A snp 1371.77 0/1 99 156 89 67 0.43 intronic rs7249216 WDR88 AU NM_173479 exon4 c.15475-11T>A 0.209265 0.1687 0.172228 0.1462 0.1782 Uncertain 19_33638641_T->C 19 33638641 33638641 T C snp 1253.77 0/1 99 130 71 59 0.45 intronic rs35863323 WDR88 AU NM_173479 exon4 c.15539+27T>C 0.209065 0.1677 0.172305 0.1468 0.1797 Uncertain 19_33642273_A->C 19 33642273 33642273 A C snp 469.77 0/1 99 59 34 25 0.42 intronic rs12327849 WDR88 AU NM_173479 exon6 c.19141+57A>C 0.710863 0.7411 Uncertain 19_33647379_T->C 19 33647379 33647379 T C snp 832.77 0/1 99 98 62 36 0.37 exonic rs11881580 WDR88 AU nonsynonymous SNV NM_173479 exon7 c.T928C p.C310R 0.255391 0.1855 0.208058 0.1511 0.1777 0.66 T 0.0 P -0.978 T 0.0 T 0.0 T Pathogenic 19_33651233_G->A 19 33651233 33651233 G A snp 1299.77 0/1 99 88 37 51 0.58 intronic rs3909410 WDR88 AU NM_173479 exon8 c.28244-86G>A 0.205272 0.1538 Uncertain 19_33655257_G->C 19 33655257 33655257 G C snp 1891.77 0/1 99 167 87 80 0.48 intronic rs77268133 WDR88 AU NM_173479 exon9 c.32096+86G>C 0.0139776 0.0675 Uncertain 19_33664913_C->T 19 33664913 33664913 C T snp 216.84 1/1 18 6 0 6 1.0 intronic rs10403697 WDR88 AU NM_173479 exon11 c.43226-1388C>T 0.233626 0.2698 Uncertain 19_33665038_G->A 19 33665038 33665038 G A snp 3444.77 1/1 99 123 0 123 1.0 intronic rs79215236 WDR88 AU NM_173479 exon11 c.43226-1263G>A 0.233626 0.2698 0.1445 0.2727 Uncertain 19_33665188_C->G 19 33665188 33665188 C G snp 3845.77 1/1 99 145 3 142 0.98 intronic rs4805855 WDR88 AU NM_173479 exon11 c.43226-1113C>G 0.234026 0.2698 Uncertain 19_33665205_A->G 19 33665205 33665205 A G snp 3204.83 1/1 99 116 2 114 0.98 intronic rs4805856 WDR88 AU NM_173479 exon11 c.43226-1096A>G 0.233626 0.2698 Uncertain 19_33665294_C->T 19 33665294 33665294 C T snp 50.74 1/1 6 2 0 2 1.0 intronic rs4805857 WDR88 AU NM_173479 exon11 c.43226-1007C>T 0.235224 0.2698 Uncertain 19_33666154_-->AAACAAAC 19 33666154 33666154 - AAACAAAC indel 876.74 1/1 30 10 0 10 1.0 intronic rs200092325 WDR88 AU NM_173479 exon11 c.43226-147insAAACAAAC 0.222843 0.2708 Uncertain 19_33685836_T->C 19 33685836 33685836 T C snp 463.77 0/1 99 39 19 20 0.51 intronic rs60145560 LRP3 AU NM_002333 exon1 c.73+72T>C 0.727436 0.5198 Uncertain 19_33687750_C->T 19 33687750 33687750 C T snp 1740.77 0/1 99 164 86 78 0.48 intronic rs3760890 LRP3 AU NM_002333 exon2 c.1992+67C>T 0.333067 0.4623 0.225361 Uncertain 19_33693703_C->T 19 33693703 33693703 C T snp 304.77 0/1 99 18 8 10 0.56 intronic rs2303095 LRP3 AU NM_002333 exon3 c.8062-50C>T 0.0341454 0.125 0.009536 0.0424 0.1917 Uncertain 19_33696136_C->T 19 33696136 33696136 C T snp 2372.77 0/1 99 147 54 93 0.63 intronic rs77775978 LRP3 AU NM_002333 exon5 c.10460-15C>T 0.034345 0.125 0.009929 0.0610 0.2515 0.0 P -1.028 T 0.0 T 0.0 T Uncertain 19_33696492_C->T 19 33696492 33696492 C T snp 1993.77 0/1 99 172 84 88 0.51 exonic rs3745976 LRP3 AU synonymous SNV NM_002333 exon5 c.C816T p.G272G 0.0179712 0.0804 0.000788 0.0142 0.1013 Uncertain 19_33698448_G->A 19 33698448 33698448 G A snp 1132.77 0/1 99 109 55 54 0.5 exonic rs3745973 LRP3 AU synonymous SNV NM_002333 exon7 c.G2280A p.E760E 0.08127 0.2024 0.050502 0.0862 0.2063 Uncertain 19_33792731_-->GCGGGT 19 33792731 33792731 - GCGGGT indel 989.73 0/1 99 36 18 18 0.5 exonic rs762459325 CEBPA AU,AD nonframeshift insertion NM_004364 exon1 c.589_590insACCCGC p.P197delinsHPP 0.0454 0.1 Uncertain 19_33882269_C->T 19 33882269 33882269 C T snp 1657.77 0/1 99 132 60 72 0.55 exonic rs779628053 PEPD AR nonsynonymous SNV NM_000285 exon13 c.G1084A p.V362M 2.467e-05 0.0002 0.02 T 1 D 0.058 D 0.996 D 0.88 D Pathogenic 19_34012861_C->T 19 34012861 34012861 C T snp 178.9 1/1 15 6 0 6 1.0 upstream rs40500 PEPD AR 0.872604 0.6984 Uncertain 19_34288179_GTGTGTGTGTGC->- 19 34288179 34288190 GTGTGTGTGTGC - indel 3120.73 1/1 99 38 0 38 1.0 intronic rs780154382 KCTD15 AU Uncertain 19_34288202_C->T 19 34288202 34288202 C T snp 1732.77 1/1 99 61 0 61 1.0 intronic rs1139231 KCTD15 AU 0.444489 0.2768 Uncertain 19_34304260_-->T 19 34304260 34304260 - T indel 2678.73 1/1 99 76 0 76 1.0 UTR3 rs397806482 KCTD15 AU 0.623003 0.2391 0.6423 0.1683 Uncertain 19_34584137_A->G 19 34584137 34584137 A G snp 1028.77 0/1 99 97 51 46 0.47 intergenic rs574004 KCTD15 AU 0.33127 0.2966 0.3768 0.3488 0 D 0.999 P -0.976 T 0.026 T 0.022 T Uncertain 19_34824583_TTTTTTTT->- 19 34824583 34824590 TTTTTTTT - indel 1971.73 0/1 99 31 10 21 0.68 intronic rs747576778 KIAA0355 AU NM_014686 exon8 c.33230-25_33230-18delTTTTTTTT 0.0009 0.0031 Uncertain 19_34830707_G->A 19 34830707 34830707 G A snp 1742.77 0/1 99 164 88 76 0.46 intronic rs16969204 KIAA0355 AU NM_014686 exon9 c.39393-64G>A 0.164137 0.1974 Uncertain 19_34838998_C->T 19 34838998 34838998 C T snp 345.56 0/1 7 11 1 10 0.91 intronic rs328406 KIAA0355 AU NM_014686 exon11 c.47569+51C>T 0.288538 0.6121 0.204122 0.2551 0.6266 Uncertain 19_34842488_T->C 19 34842488 34842488 T C snp 3616.77 1/1 99 141 0 141 1.0 exonic rs392340 KIAA0355 AU synonymous SNV NM_014686 exon13 c.T2895C p.D965D 0.602636 0.8155 0.453560 0.4506 0.8289 Uncertain 19_34843761_C->A 19 34843761 34843761 C A snp 1414.77 1/1 99 53 0 53 1.0 exonic rs397414 KIAA0355 AU synonymous SNV NM_014686 exon14 c.C3114A p.P1038P 0.629792 0.8165 0.513953 0.5912 0.8605 Uncertain 19_34843875_GCCTGCCT->- 19 34843875 34843882 GCCTGCCT - indel 516.8 1/1 18 8 0 8 1.0 UTR3 rs374447771 KIAA0355 AU 0.643371 0.8165 0.508180 0.5264 0.8119 Uncertain 19_34859457_G->A 19 34859457 34859457 G A snp 3321.77 1/1 99 116 1 115 0.99 intronic rs2099099 GPI AR NM_001289790 exon4 c.3316-30G>A 0.685903 0.8165 0.550208 0.5124 0.8306 Uncertain 19_34868642_A->G 19 34868642 34868642 A G snp 1238.77 0/1 99 90 46 44 0.49 exonic rs1801015 GPI AR synonymous SNV NM_000175 exon6 c.A489G p.G163G 0.200679 0.1984 0.152699 0.1112 0.1991 Uncertain 19_34870256_C->T 19 34870256 34870256 C T snp 125.78 0/1 27 5 1 4 0.8 intronic rs2278266 GPI AR NM_001289790 exon7 c.14251-166C>T 0.38758 0.2004 Uncertain 19_34885006_A->G 19 34885006 34885006 A G snp 2477.77 1/1 99 84 0 84 1.0 intronic rs8108038 GPI AR NM_001289790 exon11 c.28800+35A>G 0.885383 0.998 0.899200 0.9281 0.9991 Uncertain 19_34890322_G->A 19 34890322 34890322 G A snp 488.77 0/1 99 62 37 25 0.4 intronic rs2301263 GPI AR NM_001289790 exon14 c.34069+82G>A 0.611621 0.8016 Uncertain 19_34904539_C->G 19 34904539 34904539 C G snp 182.9 1/1 15 6 0 6 1.0 intronic rs9653103 PDCD2L AU NM_032346 exon5 c.9306-102C>G 0.874601 0.998 Uncertain 19_34922865_-->GTATAAA 19 34922865 34922865 - GTATAAA indel 2017.73 0/1 99 46 18 28 0.61 intronic rs10645536 UBA2 AU NM_005499 exon3 c.3499+29insGTATAAA 0.908746 0.8413 0.943636 0.9039 0.8231 Uncertain 19_34934954_T->G 19 34934954 34934954 T G snp 41.77 0/1 70 4 2 2 0.5 intronic rs200013492 UBA2 AU NM_005499 exon7 c.15479+138T>G Uncertain 19_34942872_A->T 19 34942872 34942872 A T snp 269.8 1/1 21 8 0 8 1.0 intronic rs2161472 UBA2 AU NM_005499 exon10 c.23548-13A>T 0.953874 0.9623 0.961699 0.9750 0.9647 Uncertain 19_34954873_C->G 19 34954873 34954873 C G snp 234.77 0/1 99 13 6 7 0.54 intronic rs10412944 UBA2 AU NM_005499 exon15 c.35593-57C>G 0.852236 0.8016 Uncertain 19_34959812_A->G 19 34959812 34959812 A G snp 418.77 0/1 99 32 13 19 0.59 intronic rs7258977 UBA2 AU NM_005499 exon17 c.40607-132A>G 0.608826 0.8026 Uncertain 19_34959979_A->G 19 34959979 34959979 A G snp 949.77 0/1 99 77 39 38 0.49 exonic rs7259160 UBA2 AU synonymous SNV NM_005499 exon17 c.A1776G p.S592S 0.79393 0.8383 0.843918 0.8333 0.8252 Uncertain 19_34971763_T->C 19 34971763 34971763 T C snp 962.77 0/1 99 89 50 39 0.44 intergenic rs7257588 UBA2 AU 0.609026 0.7996 Uncertain 19_34971846_C->T 19 34971846 34971846 C T snp 1583.77 0/1 99 157 79 78 0.5 intergenic rs4344866 UBA2 AU 0.609026 0.7986 0.6782 0.7385 Uncertain 19_34971998_G->A 19 34971998 34971998 G A snp 1416.77 0/1 99 120 62 58 0.48 upstream rs7248705 WTIP AU 0.609225 0.7986 Uncertain 19_34972146_G->C 19 34972146 34972146 G C snp 2032.77 0/1 99 151 68 83 0.55 upstream rs7248847 WTIP AU 0.657748 0.7996 0.7281 0.7344 Uncertain 19_34973413_T->C 19 34973413 34973413 T C snp 348.78 1/1 27 12 0 12 1.0 exonic rs1465433 WTIP AU synonymous SNV NM_001080436 exon1 c.T534C p.A178A 1 1 1 . Uncertain 19_34973476_G->A 19 34973476 34973476 G A snp 64.77 0/1 93 15 11 4 0.27 exonic rs8107479 WTIP AU synonymous SNV NM_001080436 exon1 c.G597A p.E199E 0.608826 0.7996 0.75 . Uncertain 19_34984543_T->C 19 34984543 34984543 T C snp 2291.77 0/1 99 236 126 110 0.47 intronic rs2277981 WTIP AU NM_001080436 exon5 c.11648+16T>C 0.178914 0.4236 0.065865 0.0983 0.4266 Uncertain 19_34984702_T->C 19 34984702 34984702 T C snp 268.77 0/1 99 19 8 11 0.58 intronic rs2277980 WTIP AU NM_001080436 exon5 c.11648+175T>C 0.178914 0.4236 Uncertain 19_34985455_T->C 19 34985455 34985455 T C snp 985.77 0/1 99 138 88 50 0.36 intronic rs16969368 WTIP AU NM_001080436 exon6 c.12611-35T>C 0.176518 0.4226 0.069858 0.1148 0.4365 Uncertain 19_35036089_G->A 19 35036089 35036089 G A snp 924.77 1/1 69 25 0 25 1.0 intergenic rs7259820 WTIP AU 0.990615 0.9573 Uncertain 19_35173545_T->A 19 35173545 35173545 T A snp 40.77 0/1 33 3 1 2 0.67 intronic rs12460465 ZNF302 AU NM_001289187 exon3 c.3972-136T>A 0.348842 0.2123 Uncertain 19_35173681_G->- 19 35173681 35173681 G - indel 1675.73 0/1 99 123 73 50 0.41 splicing rs370887277 ZNF302 AU NM_001289187 exon3 c.3972delG 0.0061901 0.0268 0.000088 0.0014 0.0173 Pathogenic 19_35173684_G->C 19 35173684 35173684 G C snp 1247.77 0/1 99 140 82 58 0.41 exonic rs149807567 ZNF302 AU synonymous SNV NM_001012320 exon3 c.G12C p.V4V 0.0061901 0.0268 0.0014 0.0173 Uncertain 19_35173951_C->G 19 35173951 35173951 C G snp 149.77 0/1 99 32 25 7 0.22 intronic rs145547047 ZNF302 AU NM_001289189 exon4 c.4347-105C>G 0.0313498 0.0367 Uncertain 19_35175208_A->G 19 35175208 35175208 A G snp 1177.77 0/1 99 92 43 49 0.53 exonic rs2290652 ZNF302 AU nonsynonymous SNV NM_001012320 exon5 c.A266G p.Y89C 0.250599 0.3006 0.295121 0.3116 0.2533 0.12 T 0.010 P -0.904 T 1.0 D 0.998 D Pathogenic 19_35175775_C->T 19 35175775 35175775 C T snp 2032.77 0/1 99 192 108 84 0.44 exonic rs11543232 ZNF302 AU nonsynonymous SNV NM_001012320 exon5 c.C833T p.T278I 0.250599 0.3006 0.300169 0.3089 0.2523 1 T 0.001 P -1.014 T 0.998 D 0.993 D Pathogenic 19_35231472_-->A 19 35231472 35231472 - A indel 97.73 0/1 99 14 8 6 0.43 intronic rs11426796 ZNF181 AU NM_001145665 exon4 c.5573-43insA 0.546526 0.4613 0.626349 0.6009 0.4401 Uncertain 19_35232171_T->C 19 35232171 35232171 T C snp 1604.77 0/1 99 113 54 59 0.52 exonic rs141656772 ZNF181 AU synonymous SNV NM_001029997 exon4 c.T885C p.C295C 0.0283546 0.0357 0.004998 0.0138 0.0224 Uncertain 19_35270362_G->C 19 35270362 35270362 G C snp 535.77 0/1 99 58 36 22 0.38 intergenic rs11673342 ZNF599 AU 0.234026 0.256 0.2807 0.185 Uncertain 19_35434238_A->G 19 35434238 35434238 A G snp 2193.77 0/1 99 196 96 100 0.51 exonic rs1811 ZNF30 AU nonsynonymous SNV NM_001099437 exon5 c.A371G p.Q124R 0.586062 0.6032 0.531480 0.5174 0.6261 0.15 T 0.0 P -1.000 T 0.0 T 0.014 T Pathogenic 19_35434512_T->C 19 35434512 35434512 T C snp 1832.77 0/1 99 152 70 82 0.54 exonic rs2651109 ZNF30 AU synonymous SNV NM_001099437 exon5 c.T645C p.S215S 0.653355 0.6052 0.600176 0.5348 0.6265 Uncertain 19_35435006_G->A 19 35435006 35435006 G A snp 1858.77 0/1 99 153 76 77 0.5 exonic rs1345658 ZNF30 AU nonsynonymous SNV NM_001099437 exon5 c.G1139A p.R380K 0.652356 0.6002 0.601769 0.5334 0.6176 1 T 0.000 P -1.020 T 0.0 T 0.0 T Pathogenic 19_35435069_A->G 19 35435069 35435069 A G snp 1160.77 0/1 99 92 46 46 0.5 exonic rs765746 ZNF30 AU nonsynonymous SNV NM_001099437 exon5 c.A1202G p.Y401C 0.228834 0.3909 0.176484 0.1939 0.3920 0 D 0.000 P -0.979 T 1.0 D 0.992 D Pathogenic 19_35435589_C->T 19 35435589 35435589 C T snp 2022.77 0/1 99 159 77 82 0.52 exonic rs3761066 ZNF30 AU synonymous SNV NM_001099437 exon5 c.C1722T p.C574C 0.242412 0.3869 0.189823 0.2018 0.3861 Uncertain 19_35435776_G->A 19 35435776 35435776 G A snp 1043.77 0/1 99 47 11 36 0.77 UTR3 rs1053213 ZNF30 AU 0.133187 0.2331 0.103698 0.1308 0.2413 Uncertain 19_35448803_C->A 19 35448803 35448803 C A snp 378.77 0/1 99 25 12 13 0.52 UTR3 rs1063235 ZNF792 AU 0.645567 0.6032 Uncertain 19_35449082_G->A 19 35449082 35449082 G A snp 1429.77 0/1 99 103 43 60 0.58 exonic rs3746243 ZNF792 AU synonymous SNV NM_175872 exon4 c.C1677T p.D559D 0.26238 0.3998 0.190912 0.2124 0.4015 Uncertain 19_35450229_C->T 19 35450229 35450229 C T snp 2243.77 0/1 99 250 158 92 0.37 exonic rs2651079 ZNF792 AU nonsynonymous SNV NM_175872 exon4 c.G530A p.R177Q 0.626198 0.5942 0.594572 0.5224 0.6172 1 T 0.0 P -1.018 T 0.0 T 0.0 T Pathogenic 19_35451330_A->G 19 35451330 35451330 A G snp 192.77 0/1 99 11 5 6 0.55 intronic rs2546024 ZNF792 AU NM_175872 exon2 c.2402+69A>G 0.647165 0.6091 Uncertain 19_35454604_A->C 19 35454604 35454604 A C snp 1091.77 0/1 99 104 55 49 0.47 UTR5 rs2546028 ZNF792 AU 0.636182 0.6002 0.602705 0.5440 0.6054 Uncertain 19_35454605_A->G 19 35454605 35454605 A G snp 1082.77 0/1 99 101 54 47 0.47 UTR5 rs2546029 ZNF792 AU 0.636182 0.6002 0.602436 0.5398 0.5984 Uncertain 19_35491326_-->GCCCT 19 35491326 35491326 - GCCCT indel 1521.73 1/1 69 26 0 26 1.0 UTR5 rs3072398 GRAMD1A AU 0.979832 0.998 0.889563 Uncertain 19_35513896_C->T 19 35513896 35513896 C T snp 1287.77 1/1 99 53 7 46 0.87 intronic rs4806072 GRAMD1A AU NM_020895 exon17 c.22433+81C>T 0.441294 0.5546 Uncertain 19_35533550_-->C 19 35533550 35533550 - C indel 1484.73 1/1 99 43 0 43 1.0 intronic rs11399986 HPN AU NM_002151 exon3 c.16+124insC 0.999601 1 Uncertain 19_35541278_G->A 19 35541278 35541278 G A snp 36.77 0/1 65 5 3 2 0.4 intronic rs12463218 HPN AU NM_002151 exon5 c.7010+858G>A 0.398762 0.4821 Uncertain 19_35541331_A->- 19 35541331 35541331 A - indel 804.73 1/1 60 20 0 20 1.0 intronic rs398101189 HPN AU NM_002151 exon5 c.7010+911delA 0.863818 0.8512 0.8349 0.8731 Uncertain 19_35551240_T->C 19 35551240 35551240 T C snp 2820.77 0/1 99 217 106 111 0.51 ncRNA_intronic rs75285034 HPN-AS1 AU 0.0543131 0.0248 0.024923 0.0224 0.0228 Uncertain 19_35551427_C->T 19 35551427 35551427 C T snp 2087.77 0/1 99 172 78 94 0.55 ncRNA_intronic rs117350483 HPN-AS1 AU 0.0305511 0.0248 0.000154 0.0150 0.0228 Uncertain 19_35551732_G->A 19 35551732 35551732 G A snp 754.77 0/1 99 70 38 32 0.46 ncRNA_intronic rs75282208 HPN-AS1 AU 0.0908546 0.0248 0.065893 0.0310 0.0228 Uncertain 19_35551742_A->T 19 35551742 35551742 A T snp 692.77 0/1 99 62 33 29 0.47 ncRNA_intronic rs80336604 HPN-AS1 AU 0.0908546 0.0248 0.066892 0.0308 0.0227 Uncertain 19_35556123_G->A 19 35556123 35556123 G A snp 918.77 0/1 99 69 34 35 0.51 ncRNA_intronic rs2305744 HPN-AS1 AU 0.569089 0.6726 0.604798 0.6910 0.6707 Uncertain 19_35556281_G->A 19 35556281 35556281 G A snp 2517.77 0/1 99 207 100 107 0.52 ncRNA_intronic rs2305745 HPN-AS1 AU 0.574681 0.6528 0.620637 0.6873 0.6479 Uncertain 19_35556300_A->G 19 35556300 35556300 A G snp 2493.77 0/1 99 195 92 103 0.53 ncRNA_intronic rs2305746 HPN-AS1 AU 0.823083 0.8274 0.893972 0.8959 0.8514 Uncertain 19_35556357_C->T 19 35556357 35556357 C T snp 2257.77 0/1 99 158 72 86 0.54 ncRNA_intronic rs2305747 HPN-AS1 AU 0.576677 0.6538 Uncertain 19_35556640_T->C 19 35556640 35556640 T C snp 946.77 0/1 99 71 35 36 0.51 ncRNA_intronic rs1688031 HPN-AS1 AU 0.657348 0.8254 Uncertain 19_35556659_A->G 19 35556659 35556659 A G snp 537.77 0/1 99 45 23 22 0.49 ncRNA_intronic rs1672991 HPN-AS1 AU 0.823482 0.8274 Uncertain 19_35556716_T->- 19 35556716 35556716 T - indel 168.73 0/1 99 17 10 7 0.41 ncRNA_intronic rs3835126 HPN-AS1 AU 0.657149 0.8254 Uncertain 19_35556729_C->T 19 35556729 35556729 C T snp 166.77 0/1 99 18 9 9 0.5 ncRNA_intronic rs1672992 HPN-AS1 AU 0.657348 0.8254 0.705647 0.7957 0.8517 Uncertain 19_35556744_T->C 19 35556744 35556744 T C snp 140.77 0/1 99 16 10 6 0.38 ncRNA_intronic rs1688030 HPN-AS1 AU 0.823482 0.8274 0.894049 0.8941 0.8527 Uncertain 19_35557260_T->G 19 35557260 35557260 T G snp 563.77 0/1 99 33 13 20 0.61 ncRNA_intronic rs1042328 HPN-AS1 AU 0.532748 0.6776 0.572711 Uncertain 19_35578055_G->A 19 35578055 35578055 G A snp 1417.77 0/1 99 104 58 46 0.44 ncRNA_intronic rs17718894 HPN-AS1 AU 0.303115 0.4157 Uncertain 19_35590180_T->A 19 35590180 35590180 T A snp 1911.77 1/1 99 75 0 75 1.0 ncRNA_exonic rs1687994 HPN-AS1 AU 0.833067 0.7212 0.8775 0.6985 Uncertain 19_35597352_T->C 19 35597352 35597352 T C snp 1953.77 1/1 99 58 0 58 1.0 upstream rs2445826 HPN-AS1 AU 0.991014 0.9881 0.9899 0.9949 Uncertain 19_35597462_A->G 19 35597462 35597462 A G snp 2403.77 0/1 99 230 127 103 0.45 upstream rs10424084 HPN-AS1 AU 0.48742 0.4573 0.4324 0.4719 0.39 T -0.951 T Uncertain 19_35597620_C->T 19 35597620 35597620 C T snp 1859.77 0/1 99 167 92 75 0.45 upstream rs10423723 HPN-AS1 AU 0.48722 0.4573 0.4207 0.4318 0.1 T -0.950 T Uncertain 19_35597729_C->T 19 35597729 35597729 C T snp 1197.77 0/1 99 106 54 52 0.49 upstream rs7258700 HPN-AS1 AU 0.483626 0.4554 0.4164 0.4328 0 D -0.961 T Uncertain 19_35602014_T->C 19 35602014 35602014 T C snp 3679.77 1/1 99 149 0 149 1.0 intergenic rs4806085 HPN-AS1 AU 0.6252 0.751 Uncertain 19_35602213_C->T 19 35602213 35602213 C T snp 250.77 0/1 99 26 17 9 0.35 intergenic rs12978764 HPN-AS1 AU 0.168331 0.3105 Uncertain 19_35602338_T->C 19 35602338 35602338 T C snp 748.77 1/1 54 27 0 27 1.0 intergenic rs11665663 HPN-AS1 AU 0.633187 0.75 Uncertain 19_35602451_G->C 19 35602451 35602451 G C snp 56.74 1/1 6 2 0 2 1.0 intergenic rs367761864 HPN-AS1 AU 0.988818 1 Uncertain 19_35609973_GAC->- 19 35609973 35609975 GAC - indel 2032.73 0/1 99 71 36 35 0.49 intronic rs10543115 FXYD3 AU NM_001136007 exon4 c.1862-98_1862-96delGAC 0.58726 0.5317 Uncertain 19_35609981_C->T 19 35609981 35609981 C T snp 924.77 0/1 99 80 42 38 0.47 intronic rs10426785 FXYD3 AU NM_001136007 exon4 c.1862-90C>T 0.58726 0.5317 Uncertain 19_35610245_A->G 19 35610245 35610245 A G snp 740.77 0/1 99 66 35 31 0.47 intronic rs2278994 FXYD3 AU NM_001136007 exon5 c.2057-21A>G 0.651853 0.7149 0.7164 Uncertain 19_35611913_A->G 19 35611913 35611913 A G snp 37.77 0/1 66 4 2 2 0.5 intronic rs1688015 FXYD3 AU NM_005971 exon4 c.1701-68A>G 0.594249 0.5486 0.589356 Uncertain 19_35612159_C->G 19 35612159 35612159 C G snp 1000.77 0/1 99 85 38 47 0.55 exonic rs2290649 FXYD3 AU nonsynonymous SNV NM_001136010 exon5 c.C107G p.P36R 0.236821 0.2798 0.234661 0.2652 0.3104 0.0 P -0.980 T 0.0 T 0.0 T Pathogenic 19_35614253_-->GT 19 35614253 35614253 - GT indel 1321.73 0/1 99 85 43 42 0.49 intronic rs112343981 FXYD3 AU NM_005971 exon8 c.3932+41insGT 0.21865 0.2579 0.2615 0.3065 Uncertain 19_35614336_T->C 19 35614336 35614336 T C snp 1376.77 0/1 99 103 45 58 0.56 intronic rs1672974 FXYD3 AU NM_005971 exon9 c.4064-8T>C 0.600839 0.5496 0.586575 0.6341 0.5521 Uncertain 19_35616087_G->A 19 35616087 35616087 G A snp 1753.77 0/1 99 197 112 85 0.43 UTR3 rs3826989 LGI4 AU 0.207867 0.2788 0.204060 0.2650 0.3104 Uncertain 19_35622695_A->G 19 35622695 35622695 A G snp 733.77 1/1 54 27 0 27 1.0 exonic rs1673007 LGI4 AU synonymous SNV NM_139284 exon5 c.T456C p.H152H 0.96905 0.998 0.958886 0.9540 0.9987 Uncertain 19_35624890_C->T 19 35624890 35624890 C T snp 3905.77 1/1 99 139 0 139 1.0 intronic rs11666576 LGI4 AU NM_139284 exon8 c.8840-46C>T 0.495607 0.6002 0.527044 0.4728 0.6141 Uncertain 19_35648264_G->A 19 35648264 35648264 G A snp 463.77 0/1 99 31 16 15 0.48 intronic rs12980648 FXYD5 AU NM_144779 exon3 c.1870-59G>A 0.152356 0.2579 0.112133 Uncertain 19_35648365_T->G 19 35648365 35648365 T G snp 3365.77 1/1 99 126 1 125 0.99 exonic rs1688005 FXYD5 AU nonsynonymous SNV NM_001164605 exon3 c.T103G p.S35A 0.41234 0.7976 0.276718 0.3215 0.8241 0.44 T 0.0 P -0.959 T 0.0 T 0.001 T Pathogenic 19_35649324_C->G 19 35649324 35649324 C G snp 2047.77 1/1 99 66 0 66 1.0 intronic rs1633915 FXYD5 AU NM_144779 exon4 c.2850+21C>G 0.882188 0.9782 0.806320 0.8197 0.9738 Uncertain 19_35651531_A->G 19 35651531 35651531 A G snp 936.77 1/1 69 29 0 29 1.0 intronic rs1617607 FXYD5 AU NM_144779 exon5 c.5158-80A>G 0.875 0.8185 Uncertain 19_35651806_A->T 19 35651806 35651806 A T snp 436.77 0/1 99 33 17 16 0.48 intronic rs2073948 FXYD5 AU NM_144779 exon5 c.5251+102A>T 0.0872604 0.249 Uncertain 19_35655151_T->C 19 35655151 35655151 T C snp 3309.77 1/1 99 107 1 106 0.99 splicing rs1672994 FXYD5 AU NM_144779 exon6 c.8695+3T>C 0.847444 0.8105 0.806243 0.8082 0.7910 Pathogenic 19_35657334_A->G 19 35657334 35657334 A G snp 345.77 0/1 99 32 15 17 0.53 intronic rs73044024 FXYD5 AU NM_144779 exon8 c.10775+106A>G 0.116414 0.246 0.0917 0.2687 Uncertain 19_35657351_A->C 19 35657351 35657351 A C snp 697.77 1/1 51 23 0 23 1.0 intronic rs8106303 FXYD5 AU NM_144779 exon8 c.10775+123A>C 0.876997 0.8105 0.8191 0.8033 Uncertain 19_35660450_T->C 19 35660450 35660450 T C snp 1671.77 0/1 99 122 47 75 0.61 intronic rs2285515 FXYD5 AU NM_144779 exon9 c.14015-18T>C 0.303514 0.1399 0.364063 0.3369 0.1344 Uncertain 19_35660508_G->A 19 35660508 35660508 G A snp 2714.77 1/1 99 101 0 101 1.0 exonic rs12110 FXYD5 AU nonsynonymous SNV NM_001164605 exon9 c.G527A p.R176H 0.874002 0.7927 0.834769 0.8115 0.7805 0.5 T 0.0 P -0.949 T 0.001 T 0.001 T Pathogenic 19_35660546_T->C 19 35660546 35660546 T C snp 638.77 0/1 99 68 42 26 0.38 UTR3 rs1046294 FXYD5 AU 0.304513 0.1399 0.365139 0.3397 0.1361 Uncertain 19_35740069_C->G 19 35740069 35740069 C G snp 153.77 0/1 68 10 4 6 0.6 intronic rs10412357 LSR AU NM_015925 exon1 c.253+35C>G 0.263578 0.2788 0.172756 0.2233 0.2585 Uncertain 19_35741456_T->C 19 35741456 35741456 T C snp 2385.77 0/1 99 220 116 104 0.47 exonic rs2073900 LSR AU synonymous SNV NM_001260489 exon2 c.T492C p.V164V 0.563898 0.4683 0.645471 0.6816 0.4642 Uncertain 19_35757469_A->C 19 35757469 35757469 A C snp 818.77 0/1 99 56 24 32 0.57 intronic rs12459658 LSR AU NM_015925 exon5 c.17654+34A>C 0.158746 0.1647 0.128556 0.1489 0.1685 Uncertain 19_35770056_G->A 19 35770056 35770056 G A snp 1446.77 0/1 99 110 47 63 0.57 intronic rs2280746 USF2 AU NM_003367 exon10 c.10065-13G>A 0.201478 0.2242 0.159283 0.1838 0.2859 Uncertain 19_35770174_A->G 19 35770174 35770174 A G snp 346.77 0/1 99 39 25 14 0.36 UTR3 rs12742 USF2 AU 0.400958 0.3135 0.327268 0.4615 0.3960 Uncertain 19_35785021_G->- 19 35785021 35785021 G - indel 202.73 0/1 99 15 8 7 0.47 intronic rs3214111 MAG AR 0.696685 0.6498 Uncertain 19_35786868_C->T 19 35786868 35786868 C T snp 1464.77 0/1 99 193 124 69 0.36 exonic rs2301600 MAG AR synonymous SNV NM_002361 exon4 c.C399T p.S133S 0.289537 0.4226 0.182741 0.2710 0.4136 Uncertain 19_35793589_C->T 19 35793589 35793589 C T snp 2082.77 0/1 99 188 100 88 0.47 exonic rs1126770 MAG AR synonymous SNV NM_002361 exon7 c.C1209T p.T403T 0.236222 0.1677 0.282639 0.2834 0.1521 Uncertain 19_35800720_G->C 19 35800720 35800720 G C snp 309.78 1/1 24 9 0 9 1.0 intronic rs10411883 MAG AR NM_001199216 exon8 c.14232-56G>C 0.847644 0.8026 Uncertain 19_35829513_T->C 19 35829513 35829513 T C snp 238.8 1/1 21 7 0 7 1.0 intronic rs7251526 CD22 AU NM_001185100 exon6 c.6391+179T>C 0.870407 0.8879 Uncertain 19_35835940_C->T 19 35835940 35835940 C T snp 4627.77 1/1 99 166 0 166 1.0 intronic rs45453699 CD22 AU NM_001185100 exon11 c.13010-13C>T 0.332668 0.2698 0.319314 0.2795 0.2665 Uncertain 19_35843086_G->A 19 35843086 35843086 G A snp 3799.77 1/1 99 133 1 132 0.99 exonic rs2301151 FFAR1 AU nonsynonymous SNV NM_005303 exon1 c.G632A p.R211H 0.879593 0.8056 0.837190 0.8263 0.8165 0.17 T 0.0 P -1.030 T 0.001 T 0.001 T ID=CM057586;DIS=Increased beta-cell function, association with;TAG=DP;PUB=15736105 DP Pathogenic 19_35849883_C->G 19 35849883 35849883 C G snp 375.77 0/1 99 142 109 33 0.23 exonic rs150256974 FFAR3 AU nonsynonymous SNV NM_005304 exon2 c.C91G p.L31V 0.005390 0.0409 0.1865 0.22 T 0.258 P -0.683 T 0.964 D 0.703 D Pathogenic 19_35849926_G->A 19 35849926 35849926 G A snp 1207.77 0/1 99 135 79 56 0.41 exonic rs62109581 FFAR3 AU nonsynonymous SNV NM_005304 exon2 c.G134A p.R45H 0.200724 0.2188 0.2151 0.12 T 0.000 P -1.003 T 0.371 T 0.091 T Pathogenic 19_35850672_T->C 19 35850672 35850672 T C snp 432.77 0/1 99 248 197 51 0.21 exonic rs142125121 FFAR3 AU synonymous SNV NM_005304 exon2 c.T880C p.L294L 0.2821 0.2954 Uncertain 19_35850863_A->G 19 35850863 35850863 A G snp 444.77 1/1 45 49 0 49 1.0 UTR3 rs62109583 FFAR3 AU 0.792133 0.7569 0.2616 0.4270 Uncertain 19_35850914_C->T 19 35850914 35850914 C T snp 73.77 0/1 97 17 8 9 0.53 UTR3 rs10425675 FFAR3 AU 0.126398 0.1915 Uncertain 19_35862191_C->T 19 35862191 35862191 C T snp 54.74 1/1 6 63 53 10 0.16 intergenic rs201724750 FFAR3 AU 0.132388 0.3462 Uncertain 19_35863141_T->C 19 35863141 35863141 T C snp 339.77 0/1 99 92 68 24 0.26 intergenic rs2267581 FFAR3 AU 0.2125 0.3054 Uncertain 19_35898641_T->C 19 35898641 35898641 T C snp 1095.77 0/1 99 71 29 42 0.59 ncRNA_exonic rs16970293 LINC01531 AU 0.18131 0.0655 0.2058 0.1143 Uncertain 19_35898796_-->C 19 35898796 35898796 - C indel 4236.73 0/1 99 248 125 123 0.5 ncRNA_exonic rs112270905 LINC01531 AU 0.1973 0.1388 Uncertain 19_35898859_T->C 19 35898859 35898859 T C snp 2855.77 0/1 99 247 123 124 0.5 ncRNA_exonic rs12979319 LINC01531 AU 0.0760783 0.1746 0.0645 0.15 Uncertain 19_35898899_A->G 19 35898899 35898899 A G snp 2704.77 0/1 99 240 118 122 0.51 ncRNA_exonic rs16970294 LINC01531 AU 0.179912 0.0863 0.1447 0.1043 0.0 P -0.932 T Uncertain 19_35899037_T->C 19 35899037 35899037 T C snp 35.77 0/1 64 6 4 2 0.33 ncRNA_exonic rs113510419 LINC01531 AU 0.185304 0.0655 0.1530 0.0781 0.0 P -0.926 T Uncertain 19_35989972_T->A 19 35989972 35989972 T A snp 77.77 0/1 99 6 3 3 0.5 intronic rs2293693 DMKN AU NM_001035516 exon3 c.182+173T>A 0.611821 0.6052 Uncertain 19_35991043_G->T 19 35991043 35991043 G T snp 827.77 0/1 99 65 31 34 0.52 intronic rs11666154 DMKN AU NM_001035516 exon4 c.1314+112G>T 0.623403 0.6081 Uncertain 19_35991075_T->G 19 35991075 35991075 T G snp 506.77 0/1 99 37 20 17 0.46 intronic rs73928210 DMKN AU NM_001035516 exon4 c.1314+144T>G 0.135383 0.1558 Uncertain 19_35991373_C->T 19 35991373 35991373 C T snp 1385.77 0/1 99 149 81 68 0.46 intronic rs2293695 DMKN AU NM_001190347 exon5 c.1704+52C>T 0.606629 0.6002 0.586290 0.6065 0.6837 Uncertain 19_35991442_T->G 19 35991442 35991442 T G snp 2819.77 1/1 99 104 0 104 1.0 exonic rs909072 DMKN AU nonsynonymous SNV NM_001035516 exon2 c.A122C p.D41A 0.998403 1 0.994157 0.9956 1 1 T 0.000 P -0.972 T 0.0 T 0.0 T Pathogenic 19_35992691_A->G 19 35992691 35992691 A G snp 1072.77 0/1 99 111 57 54 0.49 intronic rs8100640 DMKN AU NM_001035516 exon6 c.3107-33A>G 0.624601 0.5962 0.624043 0.5816 0.6181 Uncertain 19_35992864_C->T 19 35992864 35992864 C T snp 1186.77 0/1 99 106 54 52 0.49 intronic rs2293699 DMKN AU NM_001035516 exon6 c.3196+51C>T 0.131589 0.125 0.111476 Uncertain 19_35996721_C->T 19 35996721 35996721 C T snp 1819.77 0/1 99 200 113 87 0.43 intronic rs2293701 DMKN AU NM_001190348 exon2 c.2345+54C>T 0.0648962 0.125 0.041393 Uncertain 19_35997363_C->T 19 35997363 35997363 C T snp 346.77 0/1 99 31 16 15 0.48 intronic rs6510492 DMKN AU NM_001190348 exon4 c.2765+276C>T 0.499201 0.5694 0.4030 0.5529 Uncertain 19_35997644_C->G 19 35997644 35997644 C G snp 107.77 0/1 99 13 8 5 0.38 intronic rs6510494 DMKN AU NM_001190348 exon4 c.2765+557C>G 0.498802 0.5704 Uncertain 19_36002710_C->A 19 36002710 36002710 C A snp 3323.77 1/1 99 126 0 126 1.0 exonic rs4806162 DMKN AU synonymous SNV NM_001126056 exon4 c.G690T p.T230T 0.327676 0.4345 0.215900 0.2426 0.4842 Uncertain 19_36003430_C->T 19 36003430 36003430 C T snp 4301.77 1/1 99 142 0 142 1.0 intronic rs7254784 DMKN AU NM_001190348 exon11 c.9057+51C>T 0.351637 0.5456 0.250269 0.2996 0.5753 Uncertain 19_36003721_G->A 19 36003721 36003721 G A snp 1346.77 1/1 99 40 0 40 1.0 intronic rs7254211 DMKN AU NM_001190348 exon12 c.9370+29G>A 0.195487 0.2956 0.104891 0.1838 0.3393 Uncertain 19_36004106_A->G 19 36004106 36004106 A G snp 7483.77 1/1 99 250 0 250 1.0 exonic rs4806163 DMKN AU nonsynonymous SNV NM_001126056 exon1 c.T272C p.V91A 0.859625 0.8671 0.834307 0.8067 0.8698 0.58 T 0.0 P -1.047 T 0.001 T 0.002 T Pathogenic 19_36004171_C->A 19 36004171 36004171 C A snp 7321.77 1/1 99 245 1 244 1.0 exonic rs12460932 DMKN AU nonsynonymous SNV NM_001126056 exon1 c.G207T p.E69D 0.316494 0.3542 0.227433 0.2326 0.3913 0.16 T 0.0 P -1.036 T 0.974 D 0.969 D Pathogenic 19_36015727_G->T 19 36015727 36015727 G T snp 5144.77 1/1 99 190 0 190 1.0 intronic rs73030916 SBSN AU NM_001166035 exon3 c.1349-33G>T 0.17492 0.3532 0.077041 0.1547 0.3721 Uncertain 19_36015865_A->C 19 36015865 36015865 A C snp 507.77 1/1 39 15 0 15 1.0 intronic rs2285511 SBSN AU NM_001166035 exon3 c.1415+39A>C 0.553115 0.5397 0.550900 0.5759 0.5791 Uncertain 19_36015873_G->A 19 36015873 36015873 G A snp 394.77 1/1 30 11 0 11 1.0 intronic rs2285512 SBSN AU NM_001166035 exon3 c.1415+47G>A 0.17492 0.3532 0.076196 0.1593 0.3837 Uncertain 19_36017928_G->C 19 36017928 36017928 G C snp 7447.77 1/1 99 250 1 249 1.0 exonic rs10775583 SBSN AU nonsynonymous SNV NM_001166034 exon1 c.C1256G p.A419G 0.416933 0.6567 0.311432 0.3907 0.6911 0.99 T 0.000 P -0.970 T 0.866 T 0.416 P Pathogenic 19_36018272_C->T 19 36018272 36018272 C T snp 3302.77 1/1 99 152 5 147 0.97 exonic rs12461911 SBSN AU synonymous SNV NM_001166034 exon1 c.G912A p.A304A 0.209864 0.3631 0.115199 0.2551 0.4935 Uncertain 19_36033460_C->T 19 36033460 36033460 C T snp 3616.77 1/1 99 135 0 135 1.0 exonic rs2239945 GAPDHS AU synonymous SNV NM_014364 exon6 c.C609T p.V203V 0.205471 0.3651 0.108104 0.1936 0.3676 Uncertain 19_36038221_T->C 19 36038221 36038221 T C snp 5713.77 1/1 99 191 0 191 1.0 splicing rs759996 TMEM147 AU NM_032635 exon7 c.1584-4T>C 0.202476 0.3681 0.103644 0.1946 0.3700 Pathogenic 19_36038390_A->G 19 36038390 36038390 A G snp 3192.79 1/1 99 103 0 103 1.0 UTR3 rs7599 TMEM147 AU 0.646166 0.7391 0.604122 0.6446 0.7583 Uncertain 19_36042207_C->T 19 36042207 36042207 C T snp 836.77 1/1 66 25 0 25 1.0 intronic rs2301617 ATP4A AU NM_000704 exon4 c.832-141C>T 0.332069 0.6071 Uncertain 19_36044524_G->A 19 36044524 36044524 G A snp 566.77 1/1 42 19 0 19 1.0 intronic rs2251124 ATP4A AU NM_000704 exon6 c.3091-83G>A 0.685104 0.7381 Uncertain 19_36045772_A->G 19 36045772 36045772 A G snp 430.77 1/1 33 12 0 12 1.0 intronic rs2733739 ATP4A AU NM_000704 exon7 c.4307-51A>G 0.591254 0.6855 0.569934 Uncertain 19_36051556_T->G 19 36051556 36051556 T G snp 37.77 0/1 66 83 63 20 0.24 intronic ATP4A AU NM_000704 exon17 c.10001+39T>G Uncertain 19_36105917_A->G 19 36105917 36105917 A G snp 5126.77 1/1 99 185 0 185 1.0 intronic rs34572637 HAUS5 AU NM_015302 exon5 c.2247-26A>G 0.265775 0.2808 0.241796 0.3811 0.3485 Uncertain 19_36113658_A->G 19 36113658 36113658 A G snp 4226.77 1/1 99 157 0 157 1.0 intronic rs2285414 HAUS5 AU NM_015302 exon18 c.9939+23A>G 0.729233 0.8095 0.637344 0.6367 0.8064 Uncertain 19_36122441_G->A 19 36122441 36122441 G A snp 1141.77 1/1 84 34 0 34 1.0 intronic rs2285415 RBM42 AU NM_024321 exon4 c.2252+134G>A 0.724641 0.8075 Uncertain 19_36133983_G->- 19 36133983 36133983 G - indel 1908.73 1/1 99 53 0 53 1.0 intronic rs3214104 ETV2 AU NM_014209 exon4 c.585+36delG 0.266773 0.2847 0.257264 0.3610 0.3357 Uncertain 19_36135279_-->T 19 36135279 36135279 - T indel 3623.73 1/1 99 81 0 81 1.0 intronic rs3835005 ETV2 AU NM_014209 exon6 c.1887+30insT 0.857228 0.9058 0.727360 0.7642 0.9172 Uncertain 19_36142187_C->T 19 36142187 36142187 C T snp 5914.77 1/1 99 225 3 222 0.99 exonic rs7991 COX6B1 AR,AO synonymous SNV NM_001863 exon2 c.C42T p.T14T 0.184105 0.2857 0.120483 0.1221 0.2810 CLINSIG=non-pathogenic;CLNDBN=not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000124587.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Uncertain 19_36145410_A->- 19 36145410 36145410 A - indel 73.73 0/1 99 29 20 9 0.31 intronic rs377609041 COX6B1 AR,AO NM_001863 exon3 c.3327-62delA Uncertain 19_36149761_A->G 19 36149761 36149761 A G snp 626.77 1/1 48 16 0 16 1.0 downstream rs4806187 COX6B1 AR,AO 0.665136 0.6161 Uncertain 19_36164495_A->G 19 36164495 36164495 A G snp 1756.77 1/1 93 53 1 52 0.98 intronic rs113559151 UPK1A AU NM_007000 exon5 c.6733+48A>G 0.144569 0.2302 0.088743 0.1119 0.2449 Uncertain 19_36168914_T->C 19 36168914 36168914 T C snp 1688.77 1/1 99 57 0 57 1.0 exonic rs2285421 UPK1A AU nonsynonymous SNV NM_007000 exon8 c.T770C p.M257T 0.658746 0.6161 0.586435 0.6012 0.6216 0.71 T 0.0 P -1.059 T 0.0 T 0.0 T Pathogenic 19_36214632_-->G 19 36214632 36214632 - G indel 2083.73 1/1 99 51 0 51 1.0 splicing rs11373774 KMT2B AU NM_014727 exon8 c.5712insG 1 1 0.999265 1 1 ID=COSM1480944;OCCURENCE=1(breast) Pathogenic 19_36221051_G->A 19 36221051 36221051 G A snp 3481.77 1/1 99 128 0 128 1.0 intronic rs2242520 KMT2B AU NM_014727 exon23 c.12106+25G>A 0.371406 0.5476 0.231424 0.2623 0.5203 Uncertain 19_36224567_C->T 19 36224567 36224567 C T snp 1291.77 0/1 99 143 83 60 0.42 exonic rs754150697 KMT2B AU synonymous SNV NM_014727 exon29 c.C7029T p.P2343P 7.301e-05 0.0003 Uncertain 19_36228954_G->T 19 36228954 36228954 G T snp 4137.77 1/1 99 147 0 147 1.0 intronic rs2242522 KMT2B AU NM_014727 exon36 c.20042-8G>T 0.377995 0.497 0.405412 0.4597 0.5201 Uncertain 19_36236120_A->G 19 36236120 36236120 A G snp 6081.77 1/1 99 226 1 225 1.0 intronic rs231597 U2AF1L4 AU NM_001040425 exon5 c.2494+7A>G 0.984026 1 0.960326 0.9622 1 Uncertain 19_36239546_C->T 19 36239546 36239546 C T snp 2027.77 0/1 99 192 103 89 0.46 UTR5 rs532477190 LIN37 AU 0.00119808 Uncertain 19_36243089_T->C 19 36243089 36243089 T C snp 3886.77 1/1 99 140 0 140 1.0 exonic rs170758 LIN37 AU nonsynonymous SNV NM_019104 exon2 c.T47C p.V16A 1 1 1 1 1 T 1.000 P -0.901 T Pathogenic 19_36243813_G->A 19 36243813 36243813 G A snp 4207.77 1/1 99 158 0 158 1.0 splicing rs231243 LIN37 AU NM_019104 exon5 c.4189-1G>A 1 1 1 1 1.0 P Pathogenic 19_36255965_C->G 19 36255965 36255965 C G snp 5567.77 1/1 99 213 2 211 0.99 exonic rs7252936 PROSER3 AU synonymous SNV NM_001039887 exon7 c.C657G p.L219L 0.0896565 0.1429 0.076792 0.0952 0.1409 Uncertain 19_36257933_CT->- 19 36257933 36257934 CT - indel 1123.73 1/1 78 35 0 35 1.0 intronic rs35876904 PROSER3 AU NM_001039887 exon8 c.8740+77_8740+78delCT 0.771565 0.874 0.6489 0.8480 Uncertain 19_36258938_G->- 19 36258938 36258938 G - indel 3330.73 1/1 99 87 0 87 1.0 splicing rs398034467 PROSER3 AU NM_001039887 exon10 c.9822delG 1 1 1.0000 1 ID=COSM995220;OCCURENCE=1(endometrium),10(large_intestine) Pathogenic 19_36259292_C->T 19 36259292 36259292 C T snp 545.77 1/1 42 19 0 19 1.0 intronic rs11881839 PROSER3 AU NM_001039887 exon12 c.10189-13C>T 0.160942 0.1498 0.149285 0.1241 0.1401 Uncertain 19_36259415_G->A 19 36259415 36259415 G A snp 1651.77 1/1 99 58 0 58 1.0 exonic rs35178229 PROSER3 AU nonsynonymous SNV NM_001039887 exon12 c.G1411A p.E471K 0.138379 0.1498 0.128008 0.1170 0.1406 0 D 0.080 P -1.091 T Pathogenic 19_36259494_C->A 19 36259494 36259494 C A snp 1002.77 1/1 72 39 0 39 1.0 UTR3 rs231216 PROSER3 AU 0.228235 0.2808 0.3504 0.5812 Uncertain 19_36268471_G->A 19 36268471 36268471 G A snp 2027.77 1/1 99 70 0 70 1.0 intronic rs12982672 ARHGAP33 AU NM_052948 exon2 c.1986-75G>A 0.0972444 0.1429 0.0972 0.1435 Uncertain 19_36268771_C->T 19 36268771 36268771 C T snp 6926.77 1/1 99 250 1 249 1.0 exonic rs231228 ARHGAP33 AU synonymous SNV NM_052948 exon3 c.C150T p.A50A 0.289537 0.2907 0.251807 0.2531 0.3027 Uncertain 19_36268923_C->T 19 36268923 36268923 C T snp 2118.77 1/1 99 64 0 64 1.0 intronic rs807491 ARHGAP33 AU NM_052948 exon3 c.2250+113C>T 0.541733 0.631 Uncertain 19_36269915_T->C 19 36269915 36269915 T C snp 446.77 1/1 33 16 0 16 1.0 intronic rs231230 ARHGAP33 AU NM_052948 exon6 c.3373-18T>C 0.563698 0.7341 0.421406 0.4199 0.7125 Uncertain 19_36270052_A->G 19 36270052 36270052 A G snp 1262.77 1/1 90 46 0 46 1.0 intronic rs231231 ARHGAP33 AU NM_052948 exon6 c.3466+26A>G 0.577676 0.7371 0.444288 0.4471 0.7210 0.0 P -0.968 T 0.001 T 0.0 T Uncertain 19_36271139_C->T 19 36271139 36271139 C T snp 5021.77 1/1 99 179 0 179 1.0 exonic rs231233 ARHGAP33 AU synonymous SNV NM_001172630 exon6 c.C120T p.L40L 0.169728 0.1419 0.161003 0.1224 0.1238 Uncertain 19_36273230_C->G 19 36273230 36273230 C G snp 2302.77 1/1 99 72 0 72 1.0 intronic rs231223 ARHGAP33 AU NM_052948 exon13 c.6714-44C>G 0.543331 0.627 0.456789 0.4602 0.6594 Uncertain 19_36276268_C->T 19 36276268 36276268 C T snp 2213.77 0/1 99 203 102 101 0.5 intronic rs188607543 ARHGAP33 AU NM_052948 exon18 c.9676+32C>T 0.0115815 0.0079 0.000769 0.0090 0.0105 Uncertain 19_36276403_T->G 19 36276403 36276403 T G snp 3392.77 1/1 99 118 0 118 1.0 intronic rs120959 ARHGAP33 AU NM_052948 exon19 c.9825+18T>G 0.563698 0.7272 0.452169 0.4605 0.7518 Uncertain 19_36278470_C->G 19 36278470 36278470 C G snp 2167.77 1/1 99 83 0 83 1.0 exonic rs231235 ARHGAP33 AU synonymous SNV NM_052948 exon21 c.C2520G p.A840A 0.534744 0.627 0.444470 0.4522 0.6591 Uncertain 19_36279863_G->- 19 36279863 36279863 G - indel 986.73 1/1 78 30 0 30 1.0 ncRNA_exonic rs398034468 LINC01529 AU 1 1 Uncertain 19_36321910_G->A 19 36321910 36321910 G A snp 1464.77 0/1 99 132 69 63 0.48 intronic rs731934 NPHS1 AR NM_004646 exon3 c.4539-44G>A 0.366813 0.6736 0.288790 0.3920 0.6506 Uncertain 19_36322270_C->T 19 36322270 36322270 C T snp 3261.77 0/1 99 250 113 137 0.55 exonic rs2071327 NPHS1 AR synonymous SNV NM_004646 exon26 c.G3315A p.S1105S 0.367612 0.6716 0.289866 0.3923 0.6509 Uncertain 19_36322509_G->A 19 36322509 36322509 G A snp 1473.77 0/1 99 113 49 64 0.57 intronic rs466452 NPHS1 AR NM_004646 exon6 c.5129-35G>A 0.390575 0.2411 0.394510 0.3353 0.2732 Uncertain 19_36334594_G->A 19 36334594 36334594 G A snp 176.9 1/1 15 5 0 5 1.0 intronic rs436842 NPHS1 AR NM_004646 exon13 c.17080+99G>A 1 1 Uncertain 19_36342212_C->T 19 36342212 36342212 C T snp 2459.77 0/1 99 220 109 111 0.5 exonic rs3814995 NPHS1 AR nonsynonymous SNV NM_004646 exon3 c.G349A p.E117K 0.291933 0.5982 0.233200 0.3148 0.6053 0.91 T 1.000 P -1.004 T 0.999 D 0.973 D Pathogenic 19_36347925_G->A 19 36347925 36347925 G A snp 695.77 0/1 99 51 20 31 0.61 UTR5 rs143215686 KIRREL2 AU 0.000998403 0.005 Uncertain 19_36348121_T->G 19 36348121 36348121 T G snp 54.77 0/1 83 66 51 15 0.23 intronic KIRREL2 AU NM_199179 exon1 c.61+39T>G Uncertain 19_36355381_T->C 19 36355381 36355381 T C snp 59.74 1/1 6 3 0 3 1.0 intronic rs417851 KIRREL2 AU NM_199179 exon13 c.7528-168T>C 0.996006 1 Uncertain 19_36355595_A->G 19 36355595 36355595 A G snp 2061.77 1/1 99 81 0 81 1.0 exonic rs382789 KIRREL2 AU nonsynonymous SNV NM_199179 exon13 c.A1621G p.K541E 1 1 1.0000 1 1 T 0.0 P -0.988 T 0.0 T 0.001 T Pathogenic 19_36486445_G->C 19 36486445 36486445 G C snp 3142.77 1/1 99 123 0 123 1.0 exonic rs7249826 SDHAF1 AR nonsynonymous SNV NM_001042631 exon1 c.G269C p.C90S 1 1 1 1 1 T 0.0 P -0.966 T 0.0 T 0.0 T Pathogenic 19_36496121_A->G 19 36496121 36496121 A G snp 1071.77 0/1 99 91 42 49 0.54 intronic rs10469279 SYNE4 AR NM_001039876 exon3 c.1996-113A>G 0.480831 0.2262 Uncertain 19_36497358_C->G 19 36497358 36497358 C G snp 681.77 1/1 51 21 0 21 1.0 exonic rs2285422 SYNE4 AR nonsynonymous SNV NM_001039876 exon5 c.G834C p.Q278H 0.91274 0.8115 0.963937 0.9274 0.7957 1 T 0.0 P -0.998 T 0.0 T 0.0 T Pathogenic 19_36497373_A->G 19 36497373 36497373 A G snp 579.77 0/1 99 30 7 23 0.77 exonic rs2285423 SYNE4 AR synonymous SNV NM_001039876 exon5 c.T819C p.C273C 0.0579073 0.1954 0.021746 0.0416 0.2112 Uncertain 19_36499173_C->T 19 36499173 36499173 C T snp 980.77 0/1 99 92 48 44 0.48 exonic rs2285424 SYNE4 AR synonymous SNV NM_001039876 exon2 c.G225A p.P75P 0.322684 0.2153 0.282283 0.2289 0.2184 0.000 P -0.929 T Likely benign 19_36500501_T->G 19 36500501 36500501 T G snp 34.77 0/1 63 32 23 9 0.28 intronic ALKBH6 AU NM_001297701 exon1 c.264+46T>G Uncertain 19_36501445_C->T 19 36501445 36501445 C T snp 1805.77 0/1 99 153 68 85 0.56 intronic rs2073894 ALKBH6 AU NM_001297701 exon2 c.1277-23C>T 0.44349 0.3819 0.393415 0.3762 0.3986 Uncertain 19_36501590_G->A 19 36501590 36501590 G A snp 1688.77 0/1 99 118 48 70 0.59 splicing rs117179045 ALKBH6 AU NM_001297701 exon2 c.1394+5G>A 0.000599042 0.003 0.0002 0.0023 Pathogenic 19_36508392_A->G 19 36508392 36508392 A G snp 652.77 0/1 99 44 18 26 0.59 intronic rs2073896 CLIP3 AU NM_015526 exon3 c.1293+40A>G 0.473842 0.3591 0.437183 0.3798 0.3709 Uncertain 19_36515560_A->G 19 36515560 36515560 A G snp 265.77 0/1 99 42 28 14 0.33 intronic rs10403729 CLIP3 AU NM_015526 exon8 c.8475+26A>G 0.361422 0.4375 0.251269 0.2475 0.4449 Uncertain 19_36517655_C->T 19 36517655 36517655 C T snp 742.77 0/1 99 63 31 32 0.51 splicing rs10418015 CLIP3 AU NM_015526 exon10 c.10590+6C>T 0.488818 0.4355 0.521987 0.4939 0.4672 Pathogenic 19_36526282_ATA->- 19 36526282 36526284 ATA - indel 1528.73 0/1 99 57 27 30 0.53 UTR3 rs34026725 THAP8 AU Uncertain 19_36530332_G->A 19 36530332 36530332 G A snp 1217.77 0/1 99 183 123 60 0.33 exonic rs10420353 THAP8 AU nonsynonymous SNV NM_152658 exon3 c.C565T p.R189W 0.258387 0.3274 0.266230 0.3933 0.4422 0.25 T 0.130 P -1.092 T 0.015 T 0.003 T Pathogenic 19_36530343_C->T 19 36530343 36530343 C T snp 1459.77 0/1 99 192 125 67 0.35 exonic rs10421966 THAP8 AU nonsynonymous SNV NM_152658 exon3 c.G554A p.R185Q 0.258387 0.3274 0.269231 0.3921 0.4251 0.49 T 0.0 P -1.115 T 0.0 T 0.0 T Pathogenic 19_36530562_T->C 19 36530562 36530562 T C snp 687.77 0/1 99 62 35 27 0.44 exonic rs3810450 THAP8 AU nonsynonymous SNV NM_152658 exon3 c.A335G p.K112R 0.0623003 0.2123 0.022989 0.0424 0.2089 0.44 T 0.000 P -1.044 T 0.0 T 0.0 T Pathogenic 19_36530913_C->T 19 36530913 36530913 C T snp 1143.77 0/1 99 93 42 51 0.55 exonic rs3810449 THAP8 AU nonsynonymous SNV NM_152658 exon2 c.G209A p.R70H 0.0623003 0.2123 0.028150 0.0480 0.2181 0.2 T 1.000 P -1.136 T 0.999 D 0.985 D Pathogenic 19_36536938_A->G 19 36536938 36536938 A G snp 732.77 1/1 54 21 0 21 1.0 intronic rs7258807 THAP8 AU NM_152658 exon3 c.4697+5900A>G 0.782748 0.8274 Uncertain 19_36558113_T->C 19 36558113 36558113 T C snp 1121.77 1/1 81 35 0 35 1.0 intronic rs12608517 WDR62 AR NM_001083961 exon6 c.12334-94T>C 0.782149 0.8274 Uncertain 19_36558712_C->T 19 36558712 36558712 C T snp 271.77 0/1 94 13 5 8 0.62 intronic rs10423651 WDR62 AR NM_001083961 exon7 c.12856-17C>T 0.2498 0.2857 0.287713 0.2809 0.2670 CLINSIG=non-pathogenic|probable-non-pathogenic;CLNDBN=not_provided|not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter|no_assertion_criteria_provided;CLNACC=RCV000126306.1|RCV000147978.1;CLNDSDB=MedGen|MedGen;CLNDSDBID=CN221809|CN169374 Uncertain 19_36562292_G->A 19 36562292 36562292 G A snp 307.78 1/1 24 9 0 9 1.0 intronic rs4806260 WDR62 AR NM_001083961 exon8 c.16584-165G>A 0.994609 1 Uncertain 19_36564449_A->C 19 36564449 36564449 A C snp 78.77 0/1 99 110 83 27 0.25 intronic WDR62 AR NM_001083961 exon9 c.18560+16A>C 0.0015 0 Uncertain 19_36572279_-->TCATTTTC 19 36572279 36572279 - TCATTTTC indel 2147.73 0/1 99 52 31 21 0.4 intronic rs142105577 WDR62 AR NM_001083961 exon10 c.26461-55insTCATTTTC 0.249601 0.2867 Uncertain 19_36572564_T->C 19 36572564 36572564 T C snp 2362.77 1/1 99 74 0 74 1.0 intronic rs7246292 WDR62 AR NM_001083961 exon10 c.26599+92T>C 0.412939 0.5774 Uncertain 19_36572850_G->A 19 36572850 36572850 G A snp 312.77 0/1 99 29 18 11 0.38 intronic rs78718133 WDR62 AR NM_001083961 exon10 c.26599+378G>A 0.00359425 0.0179 Uncertain 19_36581263_G->C 19 36581263 36581263 G C snp 1985.77 1/1 99 66 1 65 0.98 intronic rs3746271 WDR62 AR NM_001083961 exon16 c.35473-83G>C 0.412939 0.5774 Uncertain 19_36581987_T->C 19 36581987 36581987 T C snp 133.03 1/1 12 4 0 4 1.0 intronic rs4806271 WDR62 AR NM_001083961 exon17 c.36228-114T>C 0.785343 0.8274 Uncertain 19_36582270_G->A 19 36582270 36582270 G A snp 3611.77 1/1 99 147 0 147 1.0 intronic rs2301736 WDR62 AR NM_001083961 exon18 c.36430-33G>A 0.41254 0.5774 0.400354 0.4329 0.5531 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000147929.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 19_36585112_AT->- 19 36585112 36585113 AT - indel 581.73 0/1 99 36 21 15 0.42 intronic rs60492874 WDR62 AR NM_001083961 exon20 c.39193+46_39193+47delAT 0.163738 0.2917 0.112061 0.1510 0.2834 Uncertain 19_36590329_T->C 19 36590329 36590329 T C snp 1885.77 1/1 99 58 0 58 1.0 exonic rs2285745 WDR62 AR nonsynonymous SNV NM_001083961 exon22 c.T2549C p.L850S 0.654153 0.6101 0.673458 0.6426 0.5803 0.79 T 0.000 P -0.952 T 0.0 T 0.0 T CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000147938.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 19_36592752_G->T 19 36592752 36592752 G T snp 1242.77 1/1 90 38 0 38 1.0 intronic rs2311004 WDR62 AR NM_001083961 exon25 c.46803+76G>T 0.412939 0.5764 Uncertain 19_36594659_A->T 19 36594659 36594659 A T snp 7052.77 1/1 99 240 0 240 1.0 exonic rs2074435 WDR62 AR nonsynonymous SNV NM_001083961 exon30 c.A3929T p.Q1310L 0.729633 0.7956 0.665462 0.6536 0.7792 0.39 T 0.0 P -0.988 T 0.0 T 0.0 T CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_multiple_submitters\x2c_no_conflicts;CLNACC=RCV000079454.4;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 19_36595258_G->C 19 36595258 36595258 G C snp 339.77 0/1 99 16 6 10 0.63 intronic rs2074436 WDR62 AR NM_001083961 exon31 c.49546-161G>C 0.164337 0.2917 Uncertain 19_36595436_A->C 19 36595436 36595436 A C snp 6060.77 1/1 99 211 0 211 1.0 exonic rs1008328 WDR62 AR nonsynonymous SNV NM_001083961 exon31 c.A4170C p.L1390F 0.716254 0.752 0.749039 0.7428 0.7473 0.7 T 0.000 P -0.954 T 0.002 T 0.003 T CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_multiple_submitters\x2c_no_conflicts;CLNACC=RCV000147972.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 19_36602729_G->C 19 36602729 36602729 G C snp 2518.77 1/1 99 93 1 92 0.99 intronic rs1003470 OVOL3 AU NM_001302757 exon2 c.231+394G>C 0.41254 0.5764 0.3157 0.5662 Uncertain 19_36603703_T->A 19 36603703 36603703 T A snp 1393.77 1/1 99 51 0 51 1.0 exonic rs2072605 OVOL3 AU synonymous SNV NM_001302757 exon3 c.T201A p.P67P 0.580272 0.5764 0.4650 0.5521 Uncertain 19_36604736_A->- 19 36604736 36604736 A - indel 623.73 0/1 99 24 6 18 0.75 intronic rs34390728 POLR2I AU NM_006233 exon1 c.63+17delA 0.0698882 0.25 0.028275 0.0503 0.2477 Uncertain 19_36605647_T->C 19 36605647 36605647 T C snp 2242.77 0/1 99 180 79 101 0.56 intronic rs2227260 POLR2I AU NM_006233 exon5 c.959+32T>C 0.721246 0.7907 0.661156 0.6540 0.7786 Uncertain 19_36605794_C->T 19 36605794 36605794 C T snp 832.77 1/1 63 22 0 22 1.0 UTR5 rs2231568 POLR2I AU 0.717452 0.7907 0.655913 0.6500 0.7805 Uncertain 19_36612396_A->G 19 36612396 36612396 A G snp 267.77 0/1 99 55 40 15 0.27 intronic rs2075474 TBCB AU NM_001281 exon4 c.5966-32A>G 0.362819 0.3323 0.390374 0.3930 0.4283 Uncertain 19_36640769_T->C 19 36640769 36640769 T C snp 919.77 1/1 66 32 0 32 1.0 UTR3 rs14100 CAPNS1 AU 0.974042 0.999 0.960864 0.9623 0.9995 Uncertain 19_36642310_T->C 19 36642310 36642310 T C snp 2585.77 1/1 99 74 0 74 1.0 intronic rs2008683 COX7A1 AU NM_001864 exon2 c.480-53T>C 0.994808 1 0.986202 Uncertain 19_36642561_-->C 19 36642561 36642561 - C indel 2164.73 1/1 99 84 3 81 0.96 intronic rs112834485 COX7A1 AU NM_001864 exon3 c.687-9insC 0.635184 0.8601 0.4188 0.7609 Uncertain 19_36642562_A->C 19 36642562 36642562 A C snp 3189.78 1/1 99 82 0 82 1.0 intronic rs2285599 COX7A1 AU NM_001864 exon3 c.687-8A>C 0.658147 0.8651 0.4408 0.7861 Uncertain 19_36642884_T->C 19 36642884 36642884 T C snp 997.77 1/1 72 39 0 39 1.0 intronic rs17879437 COX7A1 AU NM_001864 exon3 c.774+227T>C 0.386581 0.6855 0.3528 0.6349 0.000 P -0.961 T Uncertain 19_36674305_A->G 19 36674305 36674305 A G snp 4221.77 1/1 99 145 0 145 1.0 exonic rs4805162 ZNF565 AU nonsynonymous SNV NM_001042474 exon5 c.T563C p.I188T 0.630391 0.6002 0.613563 0.5543 0.6279 0.22 T 0.0 P -1.106 T 0.003 T 0.018 T Pathogenic 19_36685310_C->T 19 36685310 36685310 C T snp 1142.77 1/1 81 41 0 41 1.0 intronic rs2287897 ZNF565 AU NM_152477 exon2 c.11863+80C>T 0.589657 0.5367 Uncertain 19_36685316_T->C 19 36685316 36685316 T C snp 1163.77 1/1 84 40 0 40 1.0 intronic rs2287898 ZNF565 AU NM_152477 exon2 c.11863+86T>C 0.60004 0.5585 Uncertain 19_36685690_T->C 19 36685690 36685690 T C snp 96.28 1/1 9 3 0 3 1.0 intronic rs8102020 ZNF565 AU NM_152477 exon3 c.12564-241T>C 0.643371 0.5585 Uncertain 19_36686205_G->A 19 36686205 36686205 G A snp 74.77 0/1 99 6 3 3 0.5 intronic rs56206115 ZNF565 AU NM_152477 exon3 c.12691+147G>A 0.16274 0.1726 Uncertain 19_36728290_A->G 19 36728290 36728290 A G snp 382.77 0/1 99 19 7 12 0.63 UTR3 rs4806293 ZNF146 AU 0.146765 0.1756 Uncertain 19_36858944_A->G 19 36858944 36858944 A G snp 416.77 0/1 99 47 26 21 0.45 intronic rs11084857 ZFP14 AU NM_020917 exon4 c.27748+71A>G 0.334465 0.3423 Uncertain 19_36885067_A->T 19 36885067 36885067 A T snp 546.77 0/1 99 34 9 25 0.74 intronic rs17206365 ZFP82 AU NM_133466 exon1 c.1370+55A>T 0.294928 0.2669 0.3639 0.3010 0.22 T 0.0 P -0.908 T Uncertain 19_36900778_A->C 19 36900778 36900778 A C snp 419.77 0/1 99 32 15 17 0.53 intronic rs2271842 ZFP82 AU NM_133466 exon4 c.17127+9A>C 0.136182 0.1617 0.168857 Uncertain 19_36940760_G->T 19 36940760 36940760 G T snp 2801.77 0/1 99 249 136 113 0.45 exonic rs2967532 ZNF566 AU synonymous SNV NM_001300970 exon4 c.C64A p.R22R 0.496406 0.2669 0.598877 0.5334 0.2785 Uncertain 19_36940965_A->G 19 36940965 36940965 A G snp 226.77 0/1 99 15 6 9 0.6 intronic rs2912441 ZNF566 AU NM_001145344 exon1 c.1025+62A>G 0.246006 0.126 Uncertain 19_36967352_-->TTTC 19 36967352 36967352 - TTTC indel 772.73 0/1 99 21 8 13 0.62 intronic rs150830509 ZNF566 AU NM_001145344 exon4 c.27572-98insTTTC 0.485823 0.2718 Uncertain 19_36981218_G->A 19 36981218 36981218 G A snp 2723.77 1/1 99 104 0 104 1.0 ncRNA_exonic rs2967473 LOC728752 AU 0.746206 0.4266 0.8316 0.6667 Uncertain 19_37004938_T->C 19 37004938 37004938 T C snp 779.77 0/1 99 96 62 34 0.35 exonic rs2967505 ZNF260 AU synonymous SNV NM_001166037 exon3 c.A1203G p.S401S 0.345048 0.245 0.365754 0.3264 0.2573 Uncertain 19_37037946_G->T 19 37037946 37037946 G T snp 248.77 0/1 99 20 10 10 0.5 exonic ZNF529 AU nonsynonymous SNV NM_001145650 exon5 c.C1460A p.P487H 0 D 0.783 N -0.473 T 1.0 D 0.996 D Pathogenic 19_37038092_T->C 19 37038092 37038092 T C snp 729.77 0/1 99 106 71 35 0.33 exonic rs2278168 ZNF529 AU synonymous SNV NM_001145650 exon5 c.A1314G p.G438G 0.22504 0.1756 0.228642 0.2187 0.2141 Uncertain 19_37038416_T->C 19 37038416 37038416 T C snp 1226.77 0/1 99 85 37 48 0.56 exonic rs10424565 ZNF529 AU synonymous SNV NM_001145650 exon5 c.A990G p.R330R 0.0814696 0.0585 0.093379 0.0719 0.0664 Uncertain 19_37039069_A->C 19 37039069 37039069 A C snp 7286.77 1/1 99 248 1 247 1.0 exonic rs2912444 ZNF529 AU nonsynonymous SNV NM_001145650 exon5 c.T337G p.L113V 0.651558 0.4226 0.722027 0.6472 0.4625 0.39 T 0.0 P -1.012 T Pathogenic 19_37045452_C->T 19 37045452 37045452 C T snp 37.77 0/1 64 4 2 2 0.5 intronic rs3760826 ZNF529 AU NM_020951 exon2 c.7804-119C>T 0.202476 0.1706 Uncertain 19_37063218_-->A 19 37063218 37063218 - A indel 1756.73 1/1 99 95 4 91 0.96 intronic rs11448179 ZNF529 AU NM_020951 exon4 c.25467-16insA 0.329673 0.2371 0.4273 0.3386 Uncertain 19_37064240_A->G 19 37064240 37064240 A G snp 2301.77 1/1 99 80 0 80 1.0 ncRNA_exonic rs2967442 ZNF529-AS1 AU 0.638778 0.4226 Uncertain 19_37065732_A->C 19 37065732 37065732 A C snp 2956.77 1/1 99 110 0 110 1.0 ncRNA_exonic rs2912406 ZNF529-AS1 AU 0.313698 0.2222 0.2594 0.2583 0.000 P -0.899 T Uncertain 19_37068081_G->C 19 37068081 37068081 G C snp 139.03 1/1 12 4 0 4 1.0 ncRNA_exonic rs2912410 ZNF529-AS1 AU 0.913139 0.6577 0.9885 0.7667 0.0 P -1.017 T Uncertain 19_37117302_A->G 19 37117302 37117302 A G snp 3316.77 1/1 99 127 0 127 1.0 exonic rs3108171 ZNF382 AU nonsynonymous SNV NM_001256838 exon5 c.A500G p.E167G 0.678914 0.8135 0.650615 0.6474 0.8173 1 T 0.217 P -0.984 T 0.103 T 0.117 T Pathogenic 19_37118439_C->T 19 37118439 37118439 C T snp 2214.77 0/1 99 161 65 96 0.6 exonic rs61732180 ZNF382 AU nonsynonymous SNV NM_001256838 exon5 c.C1637T p.T546M 0.130591 0.1438 0.157081 0.1852 0.1698 0.05 T 0.0 P -0.927 T 0.0 T 0.0 T Pathogenic 19_37134737_T->C 19 37134737 37134737 T C snp 687.77 0/1 99 54 25 29 0.54 exonic rs10419469 ZNF461 AU nonsynonymous SNV NM_153257 exon5 c.A260G p.N87S 0.0892572 0.0685 0.100233 0.0718 0.0859 0.1 T 0.000 P -1.005 T 0.458 P 0.292 P Pathogenic 19_37147330_T->G 19 37147330 37147330 T G snp 2710.77 1/1 99 101 1 100 0.99 intronic rs12981751 ZNF461 AU NM_001297623 exon2 c.17795-19T>G 0.332668 0.371 0.349004 0.3422 0.4330 Uncertain 19_37185814_T->- 19 37185814 37185814 T - indel 78.73 0/1 36 19 4 15 0.79 intronic rs36094586 ZNF567 AU NM_001300979 exon3 c.9+36delT 0.3327 0.3298 Uncertain 19_37203249_T->C 19 37203249 37203249 T C snp 1267.77 1/1 93 36 0 36 1.0 intronic rs1830031 ZNF567 AU NM_001300979 exon4 c.17518-38T>C 0.696685 0.8194 0.6652 0.8299 Uncertain 19_37210529_A->G 19 37210529 37210529 A G snp 3753.77 1/1 99 135 0 135 1.0 exonic rs3108200 ZNF567 AU synonymous SNV NM_152603 exon4 c.A810G p.R270R 0.26857 0.2113 0.312779 0.2752 0.2489 Uncertain 19_37210805_C->T 19 37210805 37210805 C T snp 4642.77 1/1 99 165 0 165 1.0 exonic rs3108201 ZNF567 AU synonymous SNV NM_152603 exon4 c.C1086T p.Y362Y 0.697484 0.8194 0.660464 0.6577 0.8275 Uncertain 19_37240622_C->T 19 37240622 37240622 C T snp 2569.77 0/1 99 250 139 111 0.44 exonic rs150399291 ZNF850 AU synonymous SNV NM_001267779 exon4 c.G1224A p.Q408Q 0.048123 0.0724 0.0391 0.1576 Uncertain 19_37241141_A->G 19 37241141 37241141 A G snp 7583.77 1/1 99 250 0 250 1.0 exonic rs1673082 ZNF850 AU synonymous SNV NM_001267779 exon4 c.T705C p.H235H 0.766374 0.4206 0.8252 0.5397 Uncertain 19_37241781_G->A 19 37241781 37241781 G A snp 712.77 1/1 54 18 0 18 1.0 intronic rs2462576 ZNF850 AU NM_001267779 exon1 c.3038+75G>A 0.322085 0.2143 Uncertain 19_37413945_-->G 19 37413945 37413945 - G indel 186.87 1/1 15 5 0 5 1.0 intronic rs34898479 ZNF568 AU NM_198539 exon3 c.76+197insG 0.53155 0.2758 Uncertain 19_37416022_C->A 19 37416022 37416022 C A snp 1132.77 0/1 99 64 22 42 0.66 intronic rs1667382 ZNF568 AU NM_198539 exon4 c.2429-79C>A 0.511182 0.2282 Uncertain 19_37441111_C->T 19 37441111 37441111 C T snp 1439.77 0/1 99 121 62 59 0.49 exonic rs571294 ZNF568 AU synonymous SNV NM_001204837 exon5 c.C864T p.H288H 0.586262 0.3571 0.631275 0.5666 0.3732 Uncertain 19_37441365_T->C 19 37441365 37441365 T C snp 819.77 0/1 99 76 40 36 0.47 exonic rs547483 ZNF568 AU nonsynonymous SNV NM_001204837 exon5 c.T1118C p.M373T 0.303315 0.0913 0.376557 0.3265 0.0975 0.01 T 0.0 P -0.930 T 0.001 T 0.005 T Pathogenic 19_37441462_T->C 19 37441462 37441462 T C snp 832.77 0/1 99 56 24 32 0.57 exonic rs546589 ZNF568 AU synonymous SNV NM_001204837 exon5 c.T1215C p.T405T 0.565895 0.3105 0.629556 0.5531 0.3177 Uncertain 19_37441980_A->G 19 37441980 37441980 A G snp 178.77 0/1 99 26 17 9 0.35 exonic rs1644634 ZNF568 AU nonsynonymous SNV NM_001204837 exon5 c.A1733G p.Q578R 0.547923 0.3085 0.617101 0.5486 0.3174 0.04 T 0.0 P -0.995 T 0.0 T 0.0 T Pathogenic 19_37465414_A->G 19 37465414 37465414 A G snp 1194.77 0/1 99 132 77 55 0.42 intronic rs1375477 ZNF568 AU NM_001204839 exon6 c.37664+46A>G 0.49401 0.25 0.5090 0.2723 Uncertain 19_37482068_T->G 19 37482068 37482068 T G snp 2112.77 0/1 99 179 90 89 0.5 intronic rs1644679 ZNF568 AU NM_001204839 exon7 c.54373-9T>G 0.500399 0.25 0.5382 0.2740 Uncertain 19_37482151_A->G 19 37482151 37482151 A G snp 2671.77 0/1 99 250 139 111 0.44 exonic rs1667354 ZNF568 AU nonsynonymous SNV NM_001204839 exon7 c.A287G p.D96G 0.523962 0.251 0.5457 0.2723 0.06 T 0.995 P -1.046 T 0.043 T 0.036 T Pathogenic 19_37482765_T->C 19 37482765 37482765 T C snp 1260.77 0/1 99 93 44 49 0.53 intronic rs1644681 ZNF568 AU NM_001204839 exon8 c.55044+17T>C 0.494808 0.25 0.5464 0.3384 Uncertain 19_37482772_G->A 19 37482772 37482772 G A snp 1176.77 0/1 99 86 40 46 0.53 intronic rs1644682 ZNF568 AU NM_001204839 exon8 c.55044+24G>A 0.494808 0.251 0.5421 0.3309 Uncertain 19_37482817_G->A 19 37482817 37482817 G A snp 544.77 0/1 99 39 19 20 0.51 intronic rs2547049 ZNF568 AU NM_001204839 exon8 c.55044+69G>A 0.494209 0.25 Uncertain 19_37487632_G->A 19 37487632 37487632 G A snp 963.77 0/1 99 68 35 33 0.49 exonic rs935706 ZNF568 AU nonsynonymous SNV NM_001204839 exon9 c.G847A p.A283T 0.496605 0.25 0.5431 0.3353 0.06 T 0.121 P -0.986 T 0.022 T 0.017 T Pathogenic 19_37487723_G->A 19 37487723 37487723 G A snp 1326.77 0/1 99 103 48 55 0.53 exonic rs935707 ZNF568 AU nonsynonymous SNV NM_001204839 exon9 c.G938A p.R313H 0.496805 0.251 0.5880 0.4528 0.09 T 0.0 P -0.936 T 0.0 T 0.0 T Pathogenic 19_37487866_A->T 19 37487866 37487866 A T snp 1437.77 0/1 99 111 53 58 0.52 exonic rs1667363 ZNF568 AU nonsynonymous SNV NM_001204839 exon9 c.A1081T p.S361C 0.497005 0.25 0.5939 0.4231 1 T 1.0 P -0.956 T 0.0 T 0.0 T Pathogenic 19_37487873_C->A 19 37487873 37487873 C A snp 1409.77 0/1 99 106 51 55 0.52 exonic rs1667364 ZNF568 AU nonsynonymous SNV NM_001204839 exon9 c.C1088A p.A363E 0.497005 0.25 0.5966 0.4214 1 T 0.0 P -0.917 T 0.0 T 0.0 T Pathogenic 19_37487975_G->A 19 37487975 37487975 G A snp 1358.77 0/1 99 91 40 51 0.56 exonic rs16971886 ZNF568 AU nonsynonymous SNV NM_001204839 exon9 c.G1190A p.R397H 0.275759 0.0942 0.4295 0.2350 0.23 T 0.0 P -0.909 T 0.965 D 0.615 D Pathogenic 19_37488197_G->A 19 37488197 37488197 G A snp 1314.77 0/1 99 109 53 56 0.51 exonic rs1345748 ZNF568 AU nonsynonymous SNV NM_001204839 exon9 c.G1412A p.C471Y 0.496605 0.25 0.5638 0.3733 1 T 1.000 P -0.945 T 0.0 T 0.0 T Pathogenic 19_37488299_A->G 19 37488299 37488299 A G snp 1942.77 0/1 99 159 82 77 0.48 exonic rs1363752 ZNF568 AU nonsynonymous SNV NM_001204839 exon9 c.A1514G p.E505G 0.496406 0.25 0.5898 0.4243 1 T 0.707 P -0.964 T 0.0 T 0.0 T Pathogenic 19_37488472_C->G 19 37488472 37488472 C G snp 1129.77 0/1 99 69 26 43 0.62 exonic rs1644698 ZNF568 AU nonsynonymous SNV NM_001204839 exon9 c.C1687G p.P563A 0.497005 0.251 0.6316 0.4952 0.0 P -0.947 T 0.0 T 0.0 T Pathogenic 19_37488481_G->C 19 37488481 37488481 G C snp 1130.77 0/1 99 70 27 43 0.61 exonic rs1363753 ZNF568 AU nonsynonymous SNV NM_001204839 exon9 c.G1696C p.G566R 0.552716 0.2986 0.6522 0.5392 0.0 P -1.016 T 0.0 T 0.0 T Pathogenic 19_37488499_T->C 19 37488499 37488499 T C snp 1053.77 0/1 99 65 26 39 0.6 exonic rs1667366 ZNF568 AU stoploss NM_001204839 exon9 c.T1714C p.X572R 0.496805 0.25 0.6526 0.5308 0.000 P Uncertain 19_37488565_C->G 19 37488565 37488565 C G snp 705.77 0/1 99 54 26 28 0.52 UTR3 rs3745770 ZNF568 AU 0.275759 0.0942 0.3816 0.1532 Uncertain 19_37488677_-->A 19 37488677 37488677 - A indel 126.73 0/1 99 17 7 10 0.59 UTR3 rs3833257 ZNF568 AU 0.5806 0.4324 Uncertain 19_37579810_G->A 19 37579810 37579810 G A snp 347.77 0/1 99 25 14 11 0.44 intronic rs35162188 ZNF420 AU 0.497404 0.1954 Uncertain 19_37605917_G->A 19 37605917 37605917 G A snp 871.77 0/1 99 77 39 38 0.49 intronic rs7258360 ZNF420 AU NM_144689 exon5 c.38009-12112G>A 0.461062 0.1944 Uncertain 19_37606028_T->C 19 37606028 37606028 T C snp 1719.77 0/1 99 141 66 75 0.53 intronic rs4806412 ZNF420 AU NM_144689 exon5 c.38009-12001T>C 0.497005 0.1944 0.5204 0.1818 Uncertain 19_37641983_A->G 19 37641983 37641983 A G snp 119.77 0/1 99 8 3 5 0.63 UTR3 rs144269922 ZNF585A AU 0.000399361 0.002 Uncertain 19_37642385_C->A 19 37642385 37642385 C A snp 114.77 0/1 66 6 2 4 0.67 UTR3 rs1610560 ZNF585A AU 0.308706 0.0962 Uncertain 19_37642434_G->A 19 37642434 37642434 G A snp 823.77 0/1 99 50 23 27 0.54 UTR3 rs141288430 ZNF585A AU 0.0583067 0.0764 Uncertain 19_37642467_G->T 19 37642467 37642467 G T snp 1086.77 0/1 99 94 44 50 0.53 UTR3 rs111776093 ZNF585A AU 0.109824 0.0764 0.093216 0.0555 0.0886 Uncertain 19_37642830_G->A 19 37642830 37642830 G A snp 2028.77 0/1 99 207 120 87 0.42 exonic rs139215663 ZNF585A AU synonymous SNV NM_001288800 exon5 c.C1971T p.T657T 0.121805 0.0764 0.111137 0.0634 0.0888 Uncertain 19_37642917_G->A 19 37642917 37642917 G A snp 1938.77 0/1 99 230 136 94 0.41 exonic rs4806415 ZNF585A AU synonymous SNV NM_001288800 exon5 c.C1884T p.H628H 0.502995 0.1944 0.4825 0.2070 Uncertain 19_37642922_C->T 19 37642922 37642922 C T snp 2005.77 0/1 99 239 145 94 0.39 exonic rs4805206 ZNF585A AU nonsynonymous SNV NM_001288800 exon5 c.G1879A p.V627I 0.502196 0.1944 0.592188 0.4839 0.2081 1 T 0.540 P -0.973 T 0.0 T 0.001 T Pathogenic 19_37643522_C->T 19 37643522 37643522 C T snp 3116.77 0/1 99 250 130 120 0.48 exonic rs61733481 ZNF585A AU nonsynonymous SNV NM_001288800 exon5 c.G1279A p.A427T 0.0970447 0.0764 0.087575 0.0567 0.0882 0.63 T 0.0 P -0.978 T 0.001 T 0.005 T Pathogenic 19_37643777_C->T 19 37643777 37643777 C T snp 3079.77 0/1 99 250 136 114 0.46 exonic rs16972020 ZNF585A AU nonsynonymous SNV NM_001288800 exon5 c.G1024A p.V342I 0.122204 0.0784 0.112717 0.0636 0.0889 0.67 T 0.0 P -1.020 T 0.0 T 0.0 T Pathogenic 19_37644051_T->C 19 37644051 37644051 T C snp 1308.77 0/1 99 113 61 52 0.46 exonic rs57916401 ZNF585A AU synonymous SNV NM_001288800 exon5 c.A750G p.A250A 0.339856 0.0933 0.415538 0.3362 0.0997 Uncertain 19_37676528_G->A 19 37676528 37676528 G A snp 3147.77 0/1 99 227 96 131 0.58 exonic rs75662394 ZNF585B AU synonymous SNV NM_152279 exon5 c.C1911T p.A637A 0.277556 0.0883 0.358834 0.3185 0.0958 Uncertain 19_37677748_T->A 19 37677748 37677748 T A snp 1151.77 0/1 99 101 55 46 0.46 exonic rs45626541 ZNF585B AU nonsynonymous SNV NM_152279 exon5 c.A691T p.I231L 0.277157 0.0883 0.355528 0.3111 0.0946 0.32 T 0.000 P -0.890 T 0.059 T 0.041 T Pathogenic 19_37690375_C->T 19 37690375 37690375 C T snp 529.77 0/1 99 73 49 24 0.33 intronic rs73023557 ZNF585B AU NM_152279 exon4 c.21813-7566C>T 0.16234 0.2272 0.2129 0.3077 Uncertain 19_37690420_C->T 19 37690420 37690420 C T snp 799.77 0/1 99 93 55 38 0.41 intronic rs1234250 ZNF585B AU NM_152279 exon4 c.21813-7521C>T 0.76278 0.9117 0.6813 0.9 Uncertain 19_37721404_-->A 19 37721404 37721404 - A indel 280.73 0/1 99 75 33 42 0.56 intronic rs397826545 ZNF383 AU NM_152604 exon2 c.9+40insA 0.2862 0.2867 Uncertain 19_37726433_G->A 19 37726433 37726433 G A snp 1302.77 0/1 99 84 34 50 0.6 intronic rs320880 ZNF383 AU NM_152604 exon3 c.5095-17G>A 0.235024 0.2321 0.193603 0.1935 0.2501 Uncertain 19_37835658_C->T 19 37835658 37835658 C T snp 1122.77 0/1 99 91 41 50 0.55 exonic rs2305115 HKR1 AU synonymous SNV NM_181786 exon3 c.C72T p.S24S 0.0974441 0.0734 0.078272 0.0537 0.0856 Uncertain 19_37838010_G->A 19 37838010 37838010 G A snp 318.77 0/1 99 32 18 14 0.44 intronic rs2972597 HKR1 AU NM_181786 exon4 c.2505-81G>A 0.0976438 0.0734 Uncertain 19_37854040_G->A 19 37854040 37854040 G A snp 3198.81 0/1 99 240 112 128 0.53 exonic rs2921563 HKR1 AU nonsynonymous SNV NM_181786 exon6 c.G1343A p.R448H 0.0978435 0.0774 0.078041 0.0539 0.0905 0.13 T 1.000 P -1.095 T 1.0 D 0.985 D Pathogenic 19_37864925_-->C 19 37864925 37864925 - C indel 1902.73 1/1 99 50 0 50 1.0 intronic rs397769177 ZNF527 AU 1 1 Uncertain 19_37879852_-->TGTG 19 37879852 37879852 - TGTG indel 8281.73 0/1 99 211 87 124 0.59 exonic rs376931538 ZNF527 AU frameshift insertion NM_032453 exon5 c.901_902insTGTG p.P301fs 0.0971 0.0601 ID=COSM1683705;OCCURENCE=1(lung),5(haematopoietic_and_lymphoid_tissue),1(breast),1(prostate),1(large_intestine),1(kidney) Pathogenic 19_37879855_T->- 19 37879855 37879855 T - indel 3892.73 0/1 99 187 87 100 0.53 exonic rs200420244 ZNF527 AU frameshift deletion NM_032453 exon5 c.904delT p.Y302fs 0.051120 0.0995 0.0609 Pathogenic 19_37918609_C->T 19 37918609 37918609 C T snp 126.03 1/1 12 4 0 4 1.0 intronic rs7254009 ZNF569 AU NM_152484 exon3 c.13782+1329C>T 0.701877 0.6081 Uncertain 19_37966661_A->G 19 37966661 37966661 A G snp 240.77 0/1 99 25 16 9 0.36 intronic rs1236810 ZNF570 AU NM_001300993 exon4 c.7990-121A>G 0.0786741 0.0675 Uncertain 19_38028579_G->A 19 38028579 38028579 G A snp 1939.77 0/1 99 186 102 84 0.45 exonic rs45505797 ZNF793 AU nonsynonymous SNV NM_001013659 exon8 c.G1019A p.R340H 0.066893 0.0675 0.048302 0.0441 0.0876 0.02 T 0.0 P -1.041 T 0.003 T 0.003 T Pathogenic 19_38077661_G->A 19 38077661 38077661 G A snp 1420.77 0/1 99 140 83 57 0.41 ncRNA_exonic rs8111055 ZNF571-AS1 AU 0.910144 0.9325 Uncertain 19_38135403_T->C 19 38135403 38135403 T C snp 2201.77 1/1 99 78 0 78 1.0 intronic rs2972458 ZFP30 AU NM_014898 exon3 c.9629-107T>C 0.633586 0.3472 Uncertain 19_38135444_-->AAAAAG 19 38135444 38135444 - AAAAAG indel 12367.7 1/1 99 142 0 142 1.0 intronic rs10650894 ZFP30 AU NM_014898 exon3 c.9629-66insAAAAAG 0.630391 0.3472 Uncertain 19_38160383_T->G 19 38160383 38160383 T G snp 493.77 0/1 99 32 13 19 0.59 exonic rs56281742 ZNF781 AU nonsynonymous SNV NM_152605 exon4 c.A667C p.I223L 0.0860623 0.0823 0.070352 0.0557 0.0988 0 D 0.055 P -1.135 T 0.001 T 0.004 T Pathogenic 19_38184262_C->T 19 38184262 38184262 C T snp 930.77 0/1 99 80 40 40 0.5 intergenic rs17246792 ZNF781 AU 0.436102 0.2321 Uncertain 19_38189440_T->C 19 38189440 38189440 T C snp 6662.77 1/1 99 236 0 236 1.0 exonic rs958305 ZNF607 AU nonsynonymous SNV NM_032689 exon5 c.A1592G p.K531R 0.580871 0.3006 0.731509 0.7150 0.3103 0.06 T 0.008 P -1.004 T 0.997 D 0.907 D Pathogenic 19_38189616_T->C 19 38189616 38189616 T C snp 1680.77 1/1 84 61 1 60 0.98 exonic rs2075284 ZNF607 AU synonymous SNV NM_032689 exon5 c.A1416G p.T472T 0.634984 0.3482 0.775642 0.7423 0.3777 Uncertain 19_38190686_A->G 19 38190686 38190686 A G snp 1034.77 0/1 99 97 49 48 0.49 exonic rs35714505 ZNF607 AU nonsynonymous SNV NM_032689 exon5 c.T346C p.C116R 0.0235623 0.0486 0.010303 0.0187 0.0534 0.01 T 0.969 D 0.072 D 1.0 D 0.999 D Pathogenic 19_38190846_T->- 19 38190846 38190846 T - indel 726.73 1/1 54 18 0 18 1.0 intronic rs5827990 ZNF607 AU NM_001172677 exon1 c.1856+50delT 0.580871 0.3006 0.732383 0.7153 0.3143 Uncertain 19_38198610_G->A 19 38198610 38198610 G A snp 304.77 0/1 99 15 6 9 0.6 intronic rs7255313 ZNF607 AU NM_001172677 exon2 c.9874-204G>A 0.255791 0.1171 Uncertain 19_38202414_C->T 19 38202414 38202414 C T snp 682.77 0/1 99 48 23 25 0.52 intronic rs57504517 ZNF607 AU NM_001172677 exon4 c.13570-96C>T 0.0864617 0.0823 Uncertain 19_38202516_A->C 19 38202516 38202516 A C snp 3639.77 1/1 99 138 0 138 1.0 exonic rs2909097 ZNF607 AU nonsynonymous SNV NM_032689 exon2 c.T4G p.S2A 0.992412 0.9692 0.999769 0.9973 0.9685 1 T 0.0 P -0.958 T 0.0 T 0.001 T Pathogenic 19_38229378_G->A 19 38229378 38229378 G A snp 3800.77 1/1 99 131 0 131 1.0 UTR3 rs1291 ZNF573 AU 0.550919 0.3472 0.690066 0.7153 0.3714 Uncertain 19_38229824_T->C 19 38229824 38229824 T C snp 1447.77 1/1 99 50 0 50 1.0 exonic rs3095726 ZNF573 AU nonsynonymous SNV NM_001172692 exon4 c.A1303G p.M435V 0.725839 0.3472 0.866677 0.7660 0.3726 0.02 T 0.000 P -1.024 T 0.0 T 0.0 T Pathogenic 19_38230720_C->G 19 38230720 38230720 C G snp 1092.77 0/1 99 84 44 40 0.48 exonic rs3752365 ZNF573 AU nonsynonymous SNV NM_001172692 exon4 c.G407C p.G136A 0.0994409 0.0694 0.159080 0.1575 0.0733 0.01 T 0.012 P -1.025 T 0.989 D 0.56 D Pathogenic 19_38314767_A->G 19 38314767 38314767 A G snp 1225.77 0/1 99 98 46 52 0.53 ncRNA_exonic rs2305105 LOC100631378 AU 0.710463 0.7817 0.6732 0.7570 Uncertain 19_38315578_C->T 19 38315578 38315578 C T snp 341.77 0/1 99 22 9 13 0.59 ncRNA_intronic rs74972732 LOC100631378 AU 0.0421326 0.0982 Uncertain 19_38375830_G->A 19 38375830 38375830 G A snp 1976.77 0/1 99 137 61 76 0.55 exonic rs62110235 WDR87 AU synonymous SNV NM_001291088 exon6 c.C8481T p.Y2827Y 0.0698882 0.1062 0.050153 0.0574 0.1198 Uncertain 19_38376485_T->A 19 38376485 38376485 T A snp 2276.77 0/1 99 191 98 93 0.49 exonic rs10408510 WDR87 AU nonsynonymous SNV NM_001291088 exon6 c.A7826T p.H2609L 0.881589 0.8998 0.807490 0.8305 0.8846 1 T 0.0 P -0.996 T 0.0 T 0.0 T Pathogenic 19_38376848_T->C 19 38376848 38376848 T C snp 2334.77 0/1 99 202 105 97 0.48 exonic rs62110236 WDR87 AU nonsynonymous SNV NM_001291088 exon6 c.A7463G p.H2488R 0.0613019 0.1052 0.038984 0.0408 0.1174 0.8 T 1 N -0.940 T 0.047 T 0.027 T Pathogenic 19_38377409_A->T 19 38377409 38377409 A T snp 1876.77 1/1 99 59 2 57 0.97 exonic rs7252765 WDR87 AU nonsynonymous SNV NM_001291088 exon6 c.T6902A p.V2301E 1 1 0.9463 0.9984 0.61 T 0.0 P -1.000 T 0.0 T 0.0 T Pathogenic 19_38377564_T->C 19 38377564 38377564 T C snp 3000.77 0/1 99 250 134 116 0.46 exonic rs7253969 WDR87 AU synonymous SNV NM_001291088 exon6 c.A6747G p.K2249K 0.881589 0.8998 0.807490 0.8304 0.8866 Uncertain 19_38378539_G->C 19 38378539 38378539 G C snp 3644.77 0/1 99 249 116 133 0.53 exonic rs10422056 WDR87 AU nonsynonymous SNV NM_001291088 exon6 c.C5772G p.N1924K 0.881589 0.8998 0.8309 0.8850 1 T 0.0 P -0.986 T 0.0 T 0.0 T Pathogenic 19_38379446_C->T 19 38379446 38379446 C T snp 2470.77 0/1 99 250 138 112 0.45 exonic rs6508750 WDR87 AU nonsynonymous SNV NM_001291088 exon6 c.G4865A p.R1622Q 0.494525 0.5194 0.7943 0.67 T 0.0 P -0.974 T 0.001 T 0.0 T Pathogenic 19_38380891_C->T 19 38380891 38380891 C T snp 1582.77 0/1 99 133 60 73 0.55 exonic rs62110237 WDR87 AU synonymous SNV NM_001291088 exon6 c.G3420A p.K1140K 0.0611022 0.1052 0.0463 0.1186 Uncertain 19_38381009_A->T 19 38381009 38381009 A T snp 454.77 0/1 99 24 8 16 0.67 intronic rs62110238 WDR87 AU NM_031951 exon1 c.5345+93A>T 0.0696885 0.1052 Uncertain 19_38382328_C->T 19 38382328 38382328 C T snp 3034.77 0/1 99 221 95 126 0.57 exonic rs953370 WDR87 AU synonymous SNV NM_001291088 exon5 c.G3258A p.P1086P 0.646166 0.8214 0.494744 0.5190 0.8061 Uncertain 19_38384421_C->G 19 38384421 38384421 C G snp 2235.77 0/1 99 200 103 97 0.48 exonic rs3894129 WDR87 AU nonsynonymous SNV NM_001291088 exon4 c.G1922C p.G641A 0.881989 0.8998 0.807052 0.8311 0.8851 1 T 0.000 P -0.994 T 0.0 T 0.0 T Pathogenic 19_38385614_GGA->- 19 38385614 38385616 GGA - indel 3356.73 0/1 99 168 87 81 0.48 exonic rs76642851 WDR87 AU nonframeshift deletion NM_001291088 exon4 c.727_729del p.243_243del 0.038751 0.0402 0.1161 Uncertain 19_38385695_C->T 19 38385695 38385695 C T snp 1749.77 0/1 99 143 69 74 0.52 exonic rs62112272 WDR87 AU synonymous SNV NM_001291088 exon4 c.G648A p.T216T 0.0694888 0.1032 0.049934 0.0430 0.1158 Uncertain 19_38572777_G->A 19 38572777 38572777 G A snp 1721.77 0/1 99 135 63 72 0.53 exonic rs184751502 SIPA1L3 AR nonsynonymous SNV NM_015073 exon3 c.G572A p.R191Q 0.00299521 0.0139 0.0019 0.0212 0.39 T 1 N -0.914 T 0.883 T 0.09 P Pathogenic 19_38573149_G->C 19 38573149 38573149 G C snp 3262.77 0/1 99 250 116 134 0.54 exonic rs10405667 SIPA1L3 AR nonsynonymous SNV NM_015073 exon3 c.G944C p.G315A 0.157348 0.119 0.144450 0.1509 0.1459 0.61 T 0.0 P -1.084 T 0.009 T 0.009 T Pathogenic 19_38573802_T->C 19 38573802 38573802 T C snp 2015.77 0/1 99 171 86 85 0.5 intronic rs1568975 SIPA1L3 AR NM_015073 exon3 c.1534+63T>C 0.156749 0.121 Uncertain 19_38579285_T->C 19 38579285 38579285 T C snp 262.77 0/1 99 15 6 9 0.6 intronic rs855638 SIPA1L3 AR NM_015073 exon4 c.7155-75T>C 0.156949 0.121 Uncertain 19_38610504_G->A 19 38610504 38610504 G A snp 443.77 0/1 99 35 15 20 0.57 exonic rs59185302 SIPA1L3 AR synonymous SNV NM_015073 exon9 c.G2850A p.E950E 0.141973 0.0893 0.145824 0.1376 0.1000 Uncertain 19_38610542_G->A 19 38610542 38610542 G A snp 307.77 0/1 99 20 8 12 0.6 intronic rs59924887 SIPA1L3 AR NM_015073 exon9 c.38317+20G>A 0.141973 0.0893 0.141345 0.1550 0.1127 Uncertain 19_38621473_G->A 19 38621473 38621473 G A snp 2002.77 1/1 99 66 0 66 1.0 intronic rs861304 SIPA1L3 AR NM_015073 exon10 c.49207+61G>A 0.936701 0.9474 Uncertain 19_38631856_C->T 19 38631856 38631856 C T snp 1754.77 0/1 99 182 95 87 0.48 exonic rs200166953 SIPA1L3 AR nonsynonymous SNV NM_015073 exon11 c.C3176T p.S1059L 0.00119808 0.004 0.000154 0.0005 0.0038 0.36 T 0.539 N -0.716 T 0.01 T 0.004 T Pathogenic 19_38652993_C->T 19 38652993 38652993 C T snp 848.77 0/1 99 98 55 43 0.44 exonic rs332864 SIPA1L3 AR synonymous SNV NM_015073 exon14 c.C3762T p.S1254S 0.290335 0.2381 0.339766 0.3781 0.2216 Uncertain 19_38653097_A->C 19 38653097 38653097 A C snp 335.78 1/1 27 10 0 10 1.0 intronic rs332863 SIPA1L3 AR NM_015073 exon14 c.80806+86A>C 0.619609 0.3591 Uncertain 19_38673127_T->- 19 38673127 38673127 T - indel 1142.73 1/1 99 35 0 35 1.0 intronic rs3833273 SIPA1L3 AR NM_015073 exon16 c.100953-31delT 0.235261 0.2506 0.3995 Uncertain 19_38696714_T->C 19 38696714 38696714 T C snp 260.77 0/1 99 22 12 10 0.45 intronic rs10419131 SIPA1L3 AR NM_015073 exon22 c.124531-22T>C 0.455471 0.2867 0.433211 0.4741 0.3004 Uncertain 19_38697054_G->A 19 38697054 38697054 G A snp 161.77 0/1 99 9 3 6 0.67 UTR3 rs3745946 SIPA1L3 AR 0.515974 0.7123 Uncertain 19_38704153_G->A 19 38704153 38704153 G A snp 381.77 1/1 30 10 0 10 1.0 intronic rs10410552 DPF1 AU NM_001135156 exon3 c.1581-130G>A 0.347045 0.5962 Uncertain 19_38709135_G->A 19 38709135 38709135 G A snp 179.77 0/1 99 13 6 7 0.54 intronic DPF1 AU NM_001135156 exon8 c.6510-77G>A Uncertain 19_38743506_A->G 19 38743506 38743506 A G snp 693.77 0/1 99 49 20 29 0.59 intronic rs73030311 PPP1R14A AU NM_033256 exon3 c.1576-27A>G 0.076877 0.1349 0.049131 0.0590 0.1134 Uncertain 19_38779912_A->G 19 38779912 38779912 A G snp 125.77 0/1 99 15 9 6 0.4 intronic rs3745949 SPINT2 AR NM_001166103 exon3 c.24299+81A>G 0.162939 0.376 Uncertain 19_38794895_T->C 19 38794895 38794895 T C snp 1704.77 1/1 99 64 1 63 0.98 UTR5;UTR3 rs2304176 C19orf33;YIF1B UN 0.341454 0.5139 0.221436 0.2926 0.4875 Uncertain 19_38795159_G->A 19 38795159 38795159 G A snp 2341.77 0/1 99 164 72 92 0.56 UTR3 rs2304177 YIF1B AU 0.153754 0.1478 0.112165 0.2365 0.2347 Uncertain 19_38795250_G->A 19 38795250 38795250 G A snp 3047.77 0/1 99 221 93 128 0.58 UTR3 rs45437199 YIF1B AU 0.176118 0.1478 0.151469 0.2051 0.1348 Uncertain 19_38795547_GAA->- 19 38795547 38795549 GAA - indel 2604.73 0/1 99 100 45 55 0.55 exonic rs139805446 C19orf33 AU nonframeshift deletion NM_033520 exon4 c.264_266del p.88_89del 0.153954 0.1478 0.132188 0.1829 0.1703 ID=COSM995917;OCCURENCE=1(endometrium) Uncertain 19_38795550_-->AAGAAGGAGAAGGGC 19 38795550 38795550 - AAGAAGGAGAAGGGC indel 5547.73 0/1 99 103 49 54 0.52 exonic rs147127327 C19orf33 AU nonframeshift insertion NM_033520 exon4 c.267_268insAAGAAGGAGAAGGGC p.K89delinsKKKEKG 0.125799 0.3155 0.051721 0.0909 0.3278 ID=COSM1480996;OCCURENCE=4(urinary_tract),1(breast) Uncertain 19_38798086_T->C 19 38798086 38798086 T C snp 2973.77 1/1 99 113 0 113 1.0 exonic rs3178327 YIF1B AU synonymous SNV NM_001039671 exon7 c.A726G p.V242V 0.374601 0.5823 0.245425 0.3348 0.5511 Uncertain 19_38798408_C->T 19 38798408 38798408 C T snp 300.77 0/1 99 22 10 12 0.55 intronic rs76304131 YIF1B AU NM_001145463 exon4 c.2264+16C>T 0.0103834 0.0466 0.000692 0.0046 0.0434 Uncertain 19_38800165_C->T 19 38800165 38800165 C T snp 714.77 0/1 99 50 20 30 0.6 exonic rs3900981 YIF1B AU synonymous SNV NM_001039671 exon2 c.G132A p.L44L 0.222045 0.2331 0.186211 0.2480 0.2226 Uncertain 19_38817110_A->G 19 38817110 38817110 A G snp 895.77 1/1 66 26 0 26 1.0 intronic rs7250755 KCNK6 AU NM_004823 exon2 c.6642-122A>G 0.994409 1 Uncertain 19_38817486_T->C 19 38817486 38817486 T C snp 2740.77 0/1 99 249 134 115 0.46 exonic rs3745951 KCNK6 AU synonymous SNV NM_004823 exon2 c.T576C p.F192F 0.178914 0.1518 0.153160 0.1979 0.1358 Uncertain 19_38817876_G->A 19 38817876 38817876 G A snp 1730.77 0/1 99 178 96 82 0.46 exonic rs34989303 KCNK6 AU nonsynonymous SNV NM_004823 exon3 c.G775A p.V259M 0.15655 0.1478 0.126173 0.1703 0.1341 0.09 T 0.000 P -0.984 T 0.801 T 0.426 P Pathogenic 19_38826947_T->C 19 38826947 38826947 T C snp 1367.77 1/1 99 56 0 56 1.0 intronic rs56849284 CATSPERG AU 0.397165 0.6052 Uncertain 19_38827800_T->C 19 38827800 38827800 T C snp 220.77 0/1 99 13 6 7 0.54 intronic rs73043014 CATSPERG AU 0.0365415 0.0486 Uncertain 19_38827805_A->G 19 38827805 38827805 A G snp 261.77 0/1 99 15 7 8 0.53 intronic rs73043015 CATSPERG AU 0.0365415 0.0486 Uncertain 19_38827811_G->A 19 38827811 38827811 G A snp 326.77 0/1 99 17 7 10 0.59 intronic rs117883165 CATSPERG AU 0.0101837 0.0456 Uncertain 19_38827960_T->C 19 38827960 38827960 T C snp 2087.77 0/1 99 180 100 80 0.44 exonic rs2302182 CATSPERG AU nonsynonymous SNV NM_021185 exon2 c.T86C p.L29P 0.14996 0.1339 0.128778 0.1752 0.1230 0.04 T 0.002 P -1.089 T 1.0 D 0.998 D Pathogenic 19_38834123_G->A 19 38834123 38834123 G A snp 295.77 0/1 99 16 7 9 0.56 intronic rs77106659 CATSPERG AU NM_021185 exon4 c.6345-96G>A 0.0101837 0.0456 Uncertain 19_38842834_C->T 19 38842834 38842834 C T snp 1141.77 0/1 99 85 41 44 0.52 intronic rs117832024 CATSPERG AU NM_021185 exon8 c.15026-66C>T 0.0253594 0.0456 Uncertain 19_38847431_T->C 19 38847431 38847431 T C snp 2462.77 1/1 99 84 0 84 1.0 exonic rs2286475 CATSPERG AU synonymous SNV NM_021185 exon11 c.T1245C p.T415T 0.329073 0.4544 0.215900 0.2890 0.4465 Uncertain 19_38848796_A->G 19 38848796 38848796 A G snp 545.77 1/1 42 16 0 16 1.0 intronic rs4802351 CATSPERG AU NM_021185 exon12 c.21043-121A>G 0.177716 0.1835 Uncertain 19_38848861_C->G 19 38848861 38848861 C G snp 671.77 0/1 99 58 32 26 0.45 intronic rs8106895 CATSPERG AU NM_021185 exon12 c.21043-56C>G 0.280551 0.3998 0.175208 Uncertain 19_38850238_C->T 19 38850238 38850238 C T snp 400.77 0/1 99 29 10 19 0.66 intronic rs118138966 CATSPERG AU NM_021185 exon14 c.22347+17C>T 0.0101837 0.0456 0.000615 0.0047 0.0429 Uncertain 19_38850246_G->A 19 38850246 38850246 G A snp 439.77 1/1 33 18 0 18 1.0 intronic rs60071299 CATSPERG AU NM_021185 exon14 c.22347+25G>A 0.391374 0.6022 0.248462 0.3620 0.5926 Uncertain 19_38852357_T->G 19 38852357 38852357 T G snp 1838.77 0/1 99 193 111 82 0.42 exonic rs3745953 CATSPERG AU nonsynonymous SNV NM_021185 exon17 c.T1950G p.S650R 0.0101837 0.0456 0.000615 0.0043 0.0400 0.55 T 1.000 N -1.073 T 0.0 T 0.001 T Pathogenic 19_38853095_A->G 19 38853095 38853095 A G snp 3149.77 0/1 99 250 131 119 0.48 exonic rs182097373 CATSPERG AU nonsynonymous SNV NM_021185 exon19 c.A2237G p.Y746C 0.00199681 0.0099 0.0005 0.0062 0.02 T 1 D -0.799 T 1.0 D 0.999 D Pathogenic 19_38853297_G->A 19 38853297 38853297 G A snp 1198.77 0/1 99 69 23 46 0.67 intronic rs2302183 CATSPERG AU NM_021185 exon20 c.25479-56G>A 0.159145 0.1339 Uncertain 19_38855346_G->A 19 38855346 38855346 G A snp 214.84 1/1 18 6 0 6 1.0 intronic rs11668651 CATSPERG AU NM_021185 exon21 c.27656-184G>A 0.165136 0.1339 Uncertain 19_38858432_T->C 19 38858432 38858432 T C snp 691.77 0/1 99 63 37 26 0.41 intronic rs2302185 CATSPERG AU NM_021185 exon25 c.30542+16T>C 0.0277556 0.0437 0.019299 0.0099 0.0391 Uncertain 19_38858583_T->C 19 38858583 38858583 T C snp 644.77 0/1 99 53 30 23 0.43 intronic rs76313306 CATSPERG AU NM_021185 exon26 c.30813-104T>C 0.0279553 0.0437 Uncertain 19_38860529_A->G 19 38860529 38860529 A G snp 951.77 0/1 99 51 17 34 0.67 intronic rs112297425 CATSPERG AU NM_021185 exon27 c.32737-82A>G 0.0223642 0.0437 Uncertain 19_38860947_C->T 19 38860947 38860947 C T snp 652.77 0/1 99 50 26 24 0.48 intronic rs76234579 CATSPERG AU NM_021185 exon28 c.33024+49C>T 0.0289537 0.0823 0.014538 0.0136 0.0825 Uncertain 19_38860990_T->C 19 38860990 38860990 T C snp 590.77 0/1 99 32 14 18 0.56 intronic rs2286548 CATSPERG AU NM_021185 exon28 c.33024+92T>C 0.0223642 0.0437 Uncertain 19_38861099_G->A 19 38861099 38861099 G A snp 947.77 0/1 99 111 70 41 0.37 intronic rs2286549 CATSPERG AU NM_021185 exon29 c.33291-66G>A 0.0239617 0.0823 Uncertain 19_38877255_G->T 19 38877255 38877255 G T snp 2020.77 0/1 99 147 65 82 0.56 exonic rs117848007 GGN AU nonsynonymous SNV NM_152657 exon3 c.C647A p.A216D 0.0203674 0.0823 0.006326 0.0116 0.0834 0.06 T 1 N -1.029 T 0.001 T 0.002 T Pathogenic 19_38882781_T->G 19 38882781 38882781 T G snp 1130.77 0/1 99 101 55 46 0.46 intronic rs12609878 SPRED3 AU NM_001042522 exon2 c.1812+27T>G 0.277556 0.5367 0.151796 0.1842 0.5216 Uncertain 19_38901578_C->T 19 38901578 38901578 C T snp 1675.77 0/1 99 154 82 72 0.47 exonic rs117355762 RASGRP4 AU nonsynonymous SNV NM_001146206 exon13 c.G1346A p.R449H 0.0183706 0.0724 0.006117 0.0170 0.1166 0.04 T 1 N -0.949 T 0.132 T 0.016 T Pathogenic 19_38905361_A->C 19 38905361 38905361 A C snp 40.77 0/1 33 3 1 2 0.67 intronic rs140728979 RASGRP4 AU NM_001146207 exon9 c.4808-126A>C 0.00219649 0.0089 Uncertain 19_38909240_G->A 19 38909240 38909240 G A snp 163.78 0/1 24 8 1 7 0.88 intronic rs114281049 RASGRP4 AU NM_001146203 exon10 c.8525+36G>A 0.0219649 0.0794 0.006558 0.0113 0.1047 Uncertain 19_38910395_C->T 19 38910395 38910395 C T snp 373.77 0/1 99 17 5 12 0.71 intronic rs8111290 RASGRP4 AU NM_001146203 exon11 c.9820-104C>T 0.303914 0.4504 Uncertain 19_38910607_C->T 19 38910607 38910607 C T snp 2169.77 0/1 99 166 76 90 0.54 exonic rs769408645 RASGRP4 AU nonsynonymous SNV NM_001146202 exon6 c.G514A p.G172S 8.501e-06 0 0.85 T 0.702 N -1.059 T 0.989 D 0.72 D Pathogenic 19_38912597_G->A 19 38912597 38912597 G A snp 683.77 0/1 99 60 32 28 0.47 intronic rs4310986 RASGRP4 AU NM_001146203 exon15 c.11929-11G>A 0.440296 0.4385 0.346834 0.4150 0.4498 Uncertain 19_38912764_A->G 19 38912764 38912764 A G snp 4848.77 1/1 99 178 0 178 1.0 exonic rs892055 RASGRP4 AU nonsynonymous SNV NM_001146202 exon2 c.T53C p.I18T 0.538339 0.5536 0.424446 0.4307 0.5459 1 T 0.0 P -0.935 T 0.019 T 0.011 T Pathogenic 19_38931673_G->A 19 38931673 38931673 G A snp 80.77 0/1 57 6 3 3 0.5 intronic rs2304146 RYR1 AR,AD NM_001042723 exon2 c.7035+169G>A 0.177117 0.3155 Uncertain 19_38933120_G->A 19 38933120 38933120 G A snp 537.77 0/1 99 51 24 27 0.53 intronic rs3745843 RYR1 AR,AD NM_001042723 exon3 c.8624+27G>A 0.186701 0.3115 0.116964 0.1569 0.3113 CLINSIG=untested;CLNDBN=not_provided;CLNREVSTAT=no_assertion_provided;CLNACC=RCV000119600.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Uncertain 19_38935280_A->G 19 38935280 38935280 A G snp 2457.77 0/1 99 190 86 104 0.55 exonic rs2229139 RYR1 AR,AD synonymous SNV NM_000540 exon7 c.A594G p.L198L 0.543331 0.6121 0.603029 0.6074 0.6365 CLINSIG=untested;CLNDBN=not_provided;CLNREVSTAT=no_assertion_provided;CLNACC=RCV000119644.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Uncertain 19_38935350_-->C 19 38935350 38935350 - C indel 4007.73 0/1 99 239 93 146 0.61 intronic rs35018208 RYR1 AR,AD NM_001042723 exon7 c.10848+33insC 0.542931 0.6121 0.5780 0.6192 Uncertain 19_38939408_T->C 19 38939408 38939408 T C snp 1848.77 1/1 99 65 0 65 1.0 exonic rs10406027 RYR1 AR,AD synonymous SNV NM_000540 exon11 c.T1077C p.A359A 0.903954 0.9901 0.895202 0.8844 0.9924 CLINSIG=non-pathogenic|untested;CLNDBN=not_specified|not_provided;CLNREVSTAT=criteria_provided\x2c_multiple_submitters\x2c_no_conflicts|no_assertion_provided;CLNACC=RCV000079119.4|RCV000119418.1;CLNDSDB=MedGen|MedGen;CLNDSDBID=CN169374|CN221809 Uncertain 19_38939505_T->C 19 38939505 38939505 T C snp 338.78 1/1 27 9 0 9 1.0 intronic rs4476278 RYR1 AR,AD NM_001042723 exon11 c.14984+52T>C 0.994609 1 0.982669 0.9832 0.9998 CLINSIG=untested;CLNDBN=not_provided;CLNREVSTAT=no_assertion_provided;CLNACC=RCV000119428.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Uncertain 19_38942714_G->A 19 38942714 38942714 G A snp 585.77 1/1 45 20 0 20 1.0 intronic rs4802469 RYR1 AR,AD NM_001042723 exon12 c.18056+189G>A 0.899161 0.9901 Uncertain 19_38943728_G->A 19 38943728 38943728 G A snp 465.77 0/1 99 32 15 17 0.53 intronic rs12460768 RYR1 AR,AD NM_001042723 exon13 c.19185+74G>A 0.572284 0.6111 CLINSIG=untested;CLNDBN=not_provided;CLNREVSTAT=no_assertion_provided;CLNACC=RCV000119510.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Uncertain 19_38945851_T->C 19 38945851 38945851 T C snp 2086.77 1/1 99 78 0 78 1.0 intronic rs7254832 RYR1 AR,AD NM_001042723 exon14 c.21405-23T>C 0.901957 0.9901 0.892357 0.8799 0.9913 CLINSIG=untested;CLNDBN=not_provided;CLNREVSTAT=no_assertion_provided;CLNACC=RCV000119511.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Uncertain 19_38946182_G->A 19 38946182 38946182 G A snp 2310.77 0/1 99 233 129 104 0.45 exonic rs2288888 RYR1 AR,AD synonymous SNV NM_000540 exon15 c.G1668A p.S556S 0.571286 0.6052 0.632093 0.6366 0.6292 CLINSIG=non-pathogenic|untested;CLNDBN=not_specified|not_provided;CLNREVSTAT=criteria_provided\x2c_multiple_submitters\x2c_no_conflicts|no_assertion_provided;CLNACC=RCV000079135.4|RCV000119582.1;CLNDSDB=MedGen|MedGen;CLNDSDBID=CN169374|CN221809 Uncertain 19_38946215_G->C 19 38946215 38946215 G C snp 2080.77 0/1 99 191 105 86 0.45 intronic rs2288889 RYR1 AR,AD NM_001042723 exon15 c.21717+29G>C 0.571885 0.6052 0.632862 0.6370 0.6286 CLINSIG=untested;CLNDBN=not_provided;CLNREVSTAT=no_assertion_provided;CLNACC=RCV000119583.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Uncertain 19_38948356_T->C 19 38948356 38948356 T C snp 1183.77 0/1 99 106 57 49 0.46 intronic rs2071085 RYR1 AR,AD NM_001042723 exon17 c.23801+86T>C 0.583866 0.5933 CLINSIG=untested;CLNDBN=not_provided;CLNREVSTAT=no_assertion_provided;CLNACC=RCV000119589.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Uncertain 19_38948963_C->G 19 38948963 38948963 C G snp 2961.77 0/1 99 245 134 111 0.45 intronic rs2071086 RYR1 AR,AD NM_001042723 exon18 c.24463+31C>G 0.21865 0.3611 0.142557 0.2089 0.3482 CLINSIG=untested;CLNDBN=not_provided;CLNREVSTAT=no_assertion_provided;CLNACC=RCV000119592.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Uncertain 19_38949904_C->T 19 38949904 38949904 C T snp 1287.77 0/1 99 109 51 58 0.53 exonic rs3745847 RYR1 AR,AD synonymous SNV NM_000540 exon19 c.C2286T p.P762P 0.554113 0.5933 0.617023 0.6211 0.6159 CLINSIG=non-pathogenic|untested;CLNDBN=not_specified|not_provided;CLNREVSTAT=criteria_provided\x2c_multiple_submitters\x2c_no_conflicts|no_assertion_provided;CLNACC=RCV000079136.4|RCV000119595.1;CLNDSDB=MedGen|MedGen;CLNDSDBID=CN169374|CN221809 Uncertain 19_38950947_C->T 19 38950947 38950947 C T snp 500.77 0/1 99 40 22 18 0.45 intronic rs2304147 RYR1 AR,AD NM_001042723 exon20 c.26545-67C>T 0.553714 0.5913 CLINSIG=untested;CLNDBN=not_provided;CLNREVSTAT=no_assertion_provided;CLNACC=RCV000119596.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Uncertain 19_38953996_A->G 19 38953996 38953996 A G snp 3035.77 1/1 99 109 0 109 1.0 intronic rs2304148 RYR1 AR,AD NM_001042723 exon21 c.29593-66A>G 0.802915 0.9464 Uncertain 19_38956803_G->A 19 38956803 38956803 G A snp 2270.77 0/1 99 177 75 102 0.58 exonic rs2228069 RYR1 AR,AD synonymous SNV NM_000540 exon24 c.G2943A p.T981T 0.545527 0.5298 0.597092 0.5962 0.5650 CLINSIG=non-pathogenic|untested,untested;CLNDBN=not_specified|not_provided,not_provided;CLNREVSTAT=criteria_provided\x2c_multiple_submitters\x2c_no_conflicts|no_assertion_provided,no_assertion_provided;CLNACC=RCV000079138.4|RCV000119602.1,RCV000119603.1;CLNDSDB=MedGen|MedGen,MedGen;CLNDSDBID=CN169374|CN221809,CN221809 Uncertain 19_38956839_C->T 19 38956839 38956839 C T snp 1652.77 0/1 99 165 91 74 0.45 exonic rs2228070 RYR1 AR,AD synonymous SNV NM_000540 exon24 c.C2979T p.N993N 0.24401 0.4266 0.183538 0.2410 0.4055 CLINSIG=non-pathogenic|untested;CLNDBN=not_specified|not_provided;CLNREVSTAT=criteria_provided\x2c_multiple_submitters\x2c_no_conflicts|no_assertion_provided;CLNACC=RCV000079139.4|RCV000119604.1;CLNDSDB=MedGen|MedGen;CLNDSDBID=CN169374|CN221809 Uncertain 19_38959680_C->T 19 38959680 38959680 C T snp 3059.77 0/1 99 249 119 130 0.52 exonic rs11083462 RYR1 AR,AD synonymous SNV NM_000540 exon26 c.C3456T p.I1152I 0.449281 0.4683 0.382900 0.3956 0.4425 CLINSIG=non-pathogenic|untested;CLNDBN=not_specified|not_provided;CLNREVSTAT=criteria_provided\x2c_multiple_submitters\x2c_no_conflicts|no_assertion_provided;CLNACC=RCV000079140.4|RCV000119611.1;CLNDSDB=MedGen|MedGen;CLNDSDBID=CN169374|CN221809 Uncertain 19_38991516_G->A 19 38991516 38991516 G A snp 2869.77 0/1 99 248 121 127 0.51 exonic rs2228072 RYR1 AR,AD synonymous SNV NM_000540 exon47 c.G7500A p.A2500A 0.150759 0.1776 0.097570 0.1140 0.1593 CLINSIG=non-pathogenic,untested;CLNDBN=not_specified,not_provided;CLNREVSTAT=criteria_provided\x2c_multiple_submitters\x2c_no_conflicts,no_assertion_provided;CLNACC=RCV000079165.4,RCV000119716.1;CLNDSDB=MedGen,MedGen;CLNDSDBID=CN169374,CN221809 Uncertain 19_38991543_G->A 19 38991543 38991543 G A snp 3172.77 0/1 99 250 124 126 0.5 exonic rs2071088 RYR1 AR,AD synonymous SNV NM_000540 exon47 c.G7527A p.V2509V 0.135982 0.1776 0.088190 0.1116 0.1595 CLINSIG=non-pathogenic|untested;CLNDBN=not_specified|not_provided;CLNREVSTAT=criteria_provided\x2c_multiple_submitters\x2c_no_conflicts|no_assertion_provided;CLNACC=RCV000079166.4|RCV000119720.1;CLNDSDB=MedGen|MedGen;CLNDSDBID=CN169374|CN221809 Uncertain 19_38993372_A->G 19 38993372 38993372 A G snp 638.77 0/1 99 70 44 26 0.37 splicing rs1469695 RYR1 AR,AD NM_001042723 exon48 c.68898+5A>G 0.421925 0.3571 0.313980 0.3366 0.3497 CLINSIG=non-pathogenic|untested;CLNDBN=not_specified|not_provided;CLNREVSTAT=criteria_provided\x2c_multiple_submitters\x2c_no_conflicts|no_assertion_provided;CLNACC=RCV000079170.4|RCV000119729.1;CLNDSDB=MedGen|MedGen;CLNDSDBID=CN169374|CN221809 Pathogenic 19_38993547_C->T 19 38993547 38993547 C T snp 1570.77 0/1 99 186 113 73 0.39 exonic rs2229142 RYR1 AR,AD synonymous SNV NM_000540 exon49 c.C7863T p.H2621H 0.237819 0.3095 0.157850 0.1821 0.2941 CLINSIG=non-pathogenic|untested;CLNDBN=not_specified|not_provided;CLNREVSTAT=criteria_provided\x2c_multiple_submitters\x2c_no_conflicts|no_assertion_provided;CLNACC=RCV000079172.4|RCV000119732.1;CLNDSDB=MedGen|MedGen;CLNDSDBID=CN169374|CN221809 Uncertain 19_38993638_A->G 19 38993638 38993638 A G snp 1998.77 0/1 99 236 140 96 0.41 intronic rs1469699 RYR1 AR,AD NM_001042723 exon49 c.69141+28A>G 0.428914 0.3562 0.331078 0.3390 0.3503 CLINSIG=untested;CLNDBN=not_provided;CLNREVSTAT=no_assertion_provided;CLNACC=RCV000119735.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Uncertain 19_38994910_G->A 19 38994910 38994910 G A snp 2217.77 0/1 99 176 77 99 0.56 exonic rs2229144 RYR1 AR,AD synonymous SNV NM_000540 exon50 c.G7977A p.T2659T 0.41234 0.3532 0.319545 0.3261 0.3435 CLINSIG=non-pathogenic|untested;CLNDBN=not_specified|not_provided;CLNREVSTAT=criteria_provided\x2c_multiple_submitters\x2c_no_conflicts|no_assertion_provided;CLNACC=RCV000079174.4|RCV000119736.1;CLNDSDB=MedGen|MedGen;CLNDSDBID=CN169374|CN221809 Uncertain 19_38995152_G->A 19 38995152 38995152 G A snp 346.77 0/1 90 14 4 10 0.71 intronic rs2915949 RYR1 AR,AD NM_001042723 exon50 c.70531+152G>A 0.418131 0.3532 Uncertain 19_38995356_CCT->- 19 38995356 38995358 CCT - indel 770.73 0/1 99 40 24 16 0.4 intronic rs10532729 RYR1 AR,AD NM_001042723 exon51 c.70918-31_70918-29delCCT 0.414736 0.3532 0.320527 0.3249 0.3408 ID=COSN168930;OCCURENCE=1(large_intestine) Uncertain 19_38995438_T->C 19 38995438 38995438 T C snp 1653.77 0/1 99 165 90 75 0.45 exonic rs2960340 RYR1 AR,AD synonymous SNV NM_000540 exon51 c.T8118C p.I2706I 0.415136 0.3532 0.319775 0.3264 0.3426 CLINSIG=non-pathogenic|untested;CLNDBN=not_specified|not_provided;CLNREVSTAT=criteria_provided\x2c_multiple_submitters\x2c_no_conflicts|no_assertion_provided;CLNACC=RCV000079175.4|RCV000119738.1;CLNDSDB=MedGen|MedGen;CLNDSDBID=CN169374|CN221809 Uncertain 19_38995510_T->C 19 38995510 38995510 T C snp 2307.77 0/1 99 211 112 99 0.47 exonic rs2915951 RYR1 AR,AD synonymous SNV NM_000540 exon51 c.T8190C p.D2730D 0.417133 0.3532 0.323620 0.3294 0.3434 CLINSIG=non-pathogenic|untested;CLNDBN=not_specified|not_provided;CLNREVSTAT=criteria_provided\x2c_multiple_submitters\x2c_no_conflicts|no_assertion_provided;CLNACC=RCV000079176.4|RCV000119741.1;CLNDSDB=MedGen|MedGen;CLNDSDBID=CN169374|CN221809 Uncertain 19_38995975_G->A 19 38995975 38995975 G A snp 224.77 0/1 99 17 8 9 0.53 exonic rs2915952 RYR1 AR,AD synonymous SNV NM_000540 exon53 c.G8337A p.E2779E 0.40595 0.3532 0.308213 0.3294 0.3422 CLINSIG=non-pathogenic|untested;CLNDBN=not_specified|not_provided;CLNREVSTAT=criteria_provided\x2c_multiple_submitters\x2c_no_conflicts|no_assertion_provided;CLNACC=RCV000079177.4|RCV000119745.1;CLNDSDB=MedGen|MedGen;CLNDSDBID=CN169374|CN221809 Uncertain 19_38996066_A->G 19 38996066 38996066 A G snp 244.77 0/1 99 38 25 13 0.34 intronic rs2915953 RYR1 AR,AD NM_001042723 exon53 c.71569+28A>G 0.40595 0.3532 0.292570 0.3391 0.3472 CLINSIG=untested;CLNDBN=not_provided;CLNREVSTAT=no_assertion_provided;CLNACC=RCV000119747.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Uncertain 19_38996623_T->G 19 38996623 38996623 T G snp 34.77 0/1 63 9 7 2 0.22 intronic rs2960343 RYR1 AR,AD NM_001042723 exon54 c.72117+37T>G 0.405751 0.3532 0.257405 0.3184 0.3380 CLINSIG=untested;CLNDBN=not_provided;CLNREVSTAT=no_assertion_provided;CLNACC=RCV000119751.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Uncertain 19_38996640_A->G 19 38996640 38996640 A G snp 44.77 0/1 36 4 2 2 0.5 intronic rs2915954 RYR1 AR,AD NM_001042723 exon54 c.72117+54A>G 0.40595 0.3532 CLINSIG=untested;CLNDBN=not_provided;CLNREVSTAT=no_assertion_provided;CLNACC=RCV000119752.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Uncertain 19_38996821_A->C 19 38996821 38996821 A C snp 108.77 0/1 99 11 7 4 0.36 intronic rs2915955 RYR1 AR,AD NM_001042723 exon55 c.72473-121A>C 0.40635 0.3532 Uncertain 19_38996990_T->C 19 38996990 38996990 T C snp 2171.77 0/1 99 170 79 91 0.54 exonic rs2229146 RYR1 AR,AD synonymous SNV NM_000540 exon55 c.T8589C p.S2863S 0.408147 0.3532 0.313624 0.3265 0.3432 CLINSIG=non-pathogenic|untested;CLNDBN=not_specified|not_provided;CLNREVSTAT=criteria_provided\x2c_multiple_submitters\x2c_no_conflicts|no_assertion_provided;CLNACC=RCV000079178.4|RCV000119753.1;CLNDSDB=MedGen|MedGen;CLNDSDBID=CN169374|CN221809 Uncertain 19_38997076_C->T 19 38997076 38997076 C T snp 2010.77 0/1 99 168 79 89 0.53 intronic rs2960344 RYR1 AR,AD NM_001042723 exon56 c.72641-34C>T 0.40615 0.3532 0.309626 0.3235 0.3431 CLINSIG=untested;CLNDBN=not_provided;CLNREVSTAT=no_assertion_provided;CLNACC=RCV000119755.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Uncertain 19_38997214_T->G 19 38997214 38997214 T G snp 453.77 0/1 99 52 30 22 0.42 intronic rs2960345 RYR1 AR,AD NM_001042723 exon56 c.72717+28T>G 0.40615 0.3532 0.308781 0.3268 0.3479 CLINSIG=untested;CLNDBN=not_provided;CLNREVSTAT=no_assertion_provided;CLNACC=RCV000119757.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Uncertain 19_38997323_T->C 19 38997323 38997323 T C snp 412.77 0/1 99 33 16 17 0.52 intronic rs2915957 RYR1 AR,AD NM_001042723 exon56 c.72717+137T>C 0.40615 0.3532 Uncertain 19_38997364_-->TCA 19 38997364 38997364 - TCA indel 1611.73 0/1 99 57 27 30 0.53 intronic rs35973146 RYR1 AR,AD NM_001042723 exon57 c.72999-104insTCA 0.40595 0.3532 Uncertain 19_38997459_G->C 19 38997459 38997459 G C snp 1031.77 0/1 99 98 52 46 0.47 intronic rs2915958 RYR1 AR,AD NM_001042723 exon57 c.72999-9G>C 0.40615 0.3532 0.308627 0.3243 0.3425 CLINSIG=non-pathogenic|untested;CLNDBN=not_specified|not_provided;CLNREVSTAT=criteria_provided\x2c_multiple_submitters\x2c_no_conflicts|no_assertion_provided;CLNACC=RCV000079180.4|RCV000119758.1;CLNDSDB=MedGen|MedGen;CLNDSDBID=CN169374|CN221809 Uncertain 19_38997609_T->A 19 38997609 38997609 T A snp 413.77 0/1 99 40 20 20 0.5 intronic rs2915959 RYR1 AR,AD NM_001042723 exon57 c.73123+17T>A 0.404952 0.3532 0.307213 0.3219 0.3400 CLINSIG=non-pathogenic|untested;CLNDBN=not_specified|not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter|no_assertion_provided;CLNACC=RCV000079181.3|RCV000119760.1;CLNDSDB=MedGen|MedGen;CLNDSDBID=CN169374|CN221809 Uncertain 19_38997635_A->C 19 38997635 38997635 A C snp 281.77 0/1 99 26 10 16 0.62 intronic rs2960346 RYR1 AR,AD NM_001042723 exon57 c.73123+43A>C 0.40595 0.3542 0.305338 0.3208 0.3372 CLINSIG=untested;CLNDBN=not_provided;CLNREVSTAT=no_assertion_provided;CLNACC=RCV000119761.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Uncertain 19_38997679_G->T 19 38997679 38997679 G T snp 149.77 0/1 99 12 7 5 0.42 intronic rs2960347 RYR1 AR,AD NM_001042723 exon57 c.73123+87G>T 0.405551 0.3532 CLINSIG=untested;CLNDBN=not_provided;CLNREVSTAT=no_assertion_provided;CLNACC=RCV000119762.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Uncertain 19_38998497_-->C 19 38998497 38998497 - C indel 604.73 0/1 99 46 22 24 0.52 intronic rs5828009 RYR1 AR,AD NM_001042723 exon58 c.73998+30insC 0.40595 0.3522 0.310703 0.3243 0.3455 Uncertain 19_39002614_T->G 19 39002614 39002614 T G snp 348.77 0/1 99 49 33 16 0.33 intronic rs2960337 RYR1 AR,AD NM_001042723 exon62 c.78242-97T>G 0.275759 0.2232 CLINSIG=untested;CLNDBN=not_provided;CLNREVSTAT=no_assertion_provided;CLNACC=RCV000119766.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Uncertain 19_39002725_A->G 19 39002725 39002725 A G snp 1161.77 0/1 99 140 90 50 0.36 exonic rs2071089 RYR1 AR,AD synonymous SNV NM_000540 exon62 c.A9186G p.P3062P 0.406949 0.3532 0.310857 0.3251 0.3409 CLINSIG=non-pathogenic|untested;CLNDBN=not_specified|not_provided;CLNREVSTAT=criteria_provided\x2c_multiple_submitters\x2c_no_conflicts|no_assertion_provided;CLNACC=RCV000079184.4|RCV000119767.1;CLNDSDB=MedGen|MedGen;CLNDSDBID=CN169374|CN221809 Uncertain 19_39005937_G->T 19 39005937 39005937 G T snp 78.77 0/1 69 5 2 3 0.6 intronic rs2915942 RYR1 AR,AD NM_001042723 exon64 c.81278+190G>T 0.182308 0.1885 CLINSIG=untested;CLNDBN=not_provided;CLNREVSTAT=no_assertion_provided;CLNACC=RCV000119771.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Uncertain 19_39010053_C->T 19 39010053 39010053 C T snp 339.77 0/1 99 43 30 13 0.3 exonic rs41274330 RYR1 AR,AD synonymous SNV NM_000540 exon67 c.C10218T p.Y3406Y 0.102236 0.1885 0.034390 0.1055 0.2148 CLINSIG=non-pathogenic|untested;CLNDBN=not_specified|not_provided;CLNREVSTAT=criteria_provided\x2c_multiple_submitters\x2c_no_conflicts|no_assertion_provided;CLNACC=RCV000079116.4|RCV000119405.1;CLNDSDB=MedGen|MedGen;CLNDSDBID=CN169374|CN221809 Uncertain 19_39018277_C->T 19 39018277 39018277 C T snp 1139.77 0/1 99 128 76 52 0.41 intronic rs77592501 RYR1 AR,AD NM_001042723 exon72 c.93817-9C>T 0.10643 0.1925 0.040904 0.0817 0.1662 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_multiple_submitters\x2c_no_conflicts;CLNACC=RCV000079117.4;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 19_39018728_C->G 19 39018728 39018728 C G snp 133.03 1/1 12 4 0 4 1.0 intronic rs908644 RYR1 AR,AD NM_001042723 exon73 c.94476-217C>G 0.267971 0.1925 0.3314 0.3281 CLINSIG=untested;CLNDBN=not_provided;CLNREVSTAT=no_assertion_provided;CLNACC=RCV000119420.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Uncertain 19_39019153_A->G 19 39019153 39019153 A G snp 666.77 0/1 99 52 29 23 0.44 intronic rs6508806 RYR1 AR,AD NM_001042723 exon74 c.94769-85A>G 0.201478 0.2431 CLINSIG=untested;CLNDBN=not_provided;CLNREVSTAT=no_assertion_provided;CLNACC=RCV000119422.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Uncertain 19_39019752_C->T 19 39019752 39019752 C T snp 238.77 0/1 99 20 9 11 0.55 intronic rs61441471 RYR1 AR,AD NM_001042723 exon75 c.95228+55C>T 0.142372 0.1925 Uncertain 19_39028387_A->T 19 39028387 39028387 A T snp 49.77 0/1 31 4 1 3 0.75 intronic rs112148182 RYR1 AR,AD NM_001042723 exon83 c.104050-132A>T 0.115815 0.1905 Uncertain 19_39028759_T->G 19 39028759 39028759 T G snp 43.77 0/1 70 4 2 2 0.5 intronic rs2071091 RYR1 AR,AD NM_001042723 exon83 c.104131+159T>G 0.116014 0.1905 Uncertain 19_39066494_C->T 19 39066494 39066494 C T snp 1077.77 0/1 99 89 47 42 0.47 intronic rs73032656 RYR1 AR,AD NM_001042723 exon96 c.142089-64C>T 0.0720847 0.1042 0.023872 Uncertain 19_39075392_T->C 19 39075392 39075392 T C snp 75.77 0/1 28 4 1 3 0.75 intronic rs10408694 RYR1 AR,AD NM_001042723 exon101 c.151113-190T>C 0.224241 0.2411 Uncertain 19_39078574_T->C 19 39078574 39078574 T C snp 694.77 0/1 99 44 20 24 0.55 intronic rs10404936 MAP4K1 AU NM_001042600 exon1 c.70+117T>C 0.214657 0.244 Uncertain 19_39086604_T->C 19 39086604 39086604 T C snp 2627.77 0/1 99 225 107 118 0.52 exonic rs55922338 MAP4K1 AU synonymous SNV NM_001042600 exon27 c.A2154G p.E718E 0.144569 0.248 0.040567 0.0826 0.2421 ID=COSM148616,COSM148617;OCCURENCE=1(stomach) Uncertain 19_39098657_G->A 19 39098657 39098657 G A snp 1387.77 0/1 99 127 67 60 0.47 exonic rs56060067 MAP4K1 AU nonsynonymous SNV NM_001042600 exon15 c.C1082T p.P361L 0.0001 0.0015 0.37 T 0.980 D -0.840 T 0.919 T 0.321 D Pathogenic 19_39100462_G->C 19 39100462 39100462 G C snp 642.77 0/1 99 39 16 23 0.59 intronic rs2287735 MAP4K1 AU NM_001042600 exon20 c.22161-86G>C 0.131789 0.252 ID=COSN165805;OCCURENCE=1(breast) Uncertain 19_39100594_G->A 19 39100594 39100594 G A snp 1604.77 0/1 99 139 69 70 0.5 exonic rs2287734 MAP4K1 AU synonymous SNV NM_001042600 exon12 c.C882T p.P294P 0.120807 0.252 0.022281 0.0751 0.2545 Uncertain 19_39100688_G->A 19 39100688 39100688 G A snp 1051.77 0/1 99 92 43 49 0.53 intronic rs13345914 MAP4K1 AU NM_001042600 exon20 c.22278+23G>A 0.146565 0.252 0.044519 0.0820 0.2532 Uncertain 19_39100737_A->G 19 39100737 39100737 A G snp 603.77 0/1 99 52 26 26 0.5 intronic rs13345885 MAP4K1 AU NM_001042600 exon20 c.22278+72A>G 0.306909 0.3919 Uncertain 19_39100808_C->T 19 39100808 39100808 C T snp 214.77 0/1 99 18 8 10 0.56 intronic rs73552634 MAP4K1 AU NM_001042600 exon20 c.22278+143C>T 0.163938 0.252 Uncertain 19_39101669_A->G 19 39101669 39101669 A G snp 995.77 0/1 99 72 29 43 0.6 intronic rs2287733 MAP4K1 AU NM_001042600 exon21 c.23303-21A>G 0.308506 0.3919 0.160811 0.2529 0.4149 Uncertain 19_39101870_T->C 19 39101870 39101870 T C snp 756.77 0/1 99 67 35 32 0.48 intronic rs2287732 MAP4K1 AU NM_001042600 exon22 c.23495-12T>C 0.308307 0.3909 0.162397 0.2197 0.3708 Uncertain 19_39101879_G->A 19 39101879 39101879 G A snp 853.77 0/1 99 67 35 32 0.48 splicing rs2287731 MAP4K1 AU NM_001042600 exon22 c.23495-3G>A 0.160144 0.252 0.057192 0.0850 0.2531 Pathogenic 19_39104450_C->T 19 39104450 39104450 C T snp 110.77 0/1 99 13 9 4 0.31 intronic rs750437 MAP4K1 AU NM_001042600 exon24 c.26132-69C>T 0.148163 0.2976 Uncertain 19_39106924_A->G 19 39106924 39106924 A G snp 610.77 0/1 99 52 24 28 0.54 intronic rs2303041 MAP4K1 AU NM_001042600 exon28 c.28512+25A>G 0.175919 0.4683 0.029917 0.1047 0.5054 Uncertain 19_39191383_G->C 19 39191383 39191383 G C snp 2219.77 0/1 99 161 77 84 0.52 intronic rs2112649 ACTN4 AD NM_004924 exon2 c.52969+29G>C 0.670727 0.622 0.676611 0.7239 0.6269 Uncertain 19_39212400_C->T 19 39212400 39212400 C T snp 2487.77 0/1 99 195 94 101 0.52 intronic rs2306197 ACTN4 AD NM_004924 exon12 c.73943+72C>T 0.0714856 0.124 0.0504 0.1912 Uncertain 19_39221947_A->T 19 39221947 39221947 A T snp 77.77 0/1 63 5 2 3 0.6 intronic rs4801859 CAPN12 AU NM_144691 exon3 c.372+84A>T 0.258387 0.1448 Uncertain 19_39224413_A->G 19 39224413 39224413 A G snp 1803.77 0/1 99 188 102 86 0.46 exonic rs4801861 CAPN12 AU synonymous SNV NM_144691 exon18 c.T1887C p.F629F 0.801118 0.6369 0.817818 0.7654 0.6396 Uncertain 19_39227108_TTGACCAAGCCCCAGGGCAGG->- 19 39227108 39227128 TTGACCAAGCCCCAGGGCAGG - indel 5083.73 0/1 99 64 27 37 0.58 intronic rs202243527 CAPN12 AU NM_144691 exon11 c.5700-83_5700-63delTTGACCAAGCCCCAGGGCAGG 0.275537 Uncertain 19_39227716_T->C 19 39227716 39227716 T C snp 101.28 1/1 9 4 0 4 1.0 intronic rs112197111 CAPN12 AU NM_144691 exon12 c.6304-79T>C 0.13119 0.123 Uncertain 19_39233146_A->G 19 39233146 39233146 A G snp 1313.77 0/1 99 112 59 53 0.47 exonic rs936524 CAPN12 AU synonymous SNV NM_144691 exon3 c.T330C p.A110A 0.671126 0.623 0.677226 0.7278 0.6300 Uncertain 19_39233257_C->T 19 39233257 39233257 C T snp 69.77 0/1 98 6 3 3 0.5 intronic rs4261660 CAPN12 AU NM_144691 exon19 c.11677+89C>T 0.141573 0.1726 Uncertain 19_39234879_T->C 19 39234879 39234879 T C snp 379.77 0/1 99 21 8 13 0.62 UTR5 rs76443569 CAPN12 AU 0.134984 0.2034 Uncertain 19_39281540_T->A 19 39281540 39281540 T A snp 110.94 0/1 14 35 22 13 0.37 intronic rs147201724 LGALS7B AU NM_001042507 exon3 c.1664+10T>A 0.68111 0.8036 0.7822 0.8527 Uncertain 19_39297007_-->A 19 39297007 39297007 - A indel 137.73 0/1 99 16 8 8 0.5 intronic rs398120991 LGALS4 AU NM_006149 exon7 c.4697-93insA 0.411741 0.3393 Uncertain 19_39299280_A->G 19 39299280 39299280 A G snp 161.77 0/1 57 9 2 7 0.78 intronic rs8111357 LGALS4 AU NM_006149 exon8 c.6980-103A>G Uncertain 19_39299362_A->G 19 39299362 39299362 A G snp 600.77 0/1 99 50 24 26 0.52 intronic rs1035525 LGALS4 AU NM_006149 exon8 c.6980-21A>G 0.384385 0.3671 0.352145 0.3017 0.3720 Uncertain 19_39306425_A->C 19 39306425 39306425 A C snp 3395.77 0/1 99 249 107 142 0.57 intronic rs2075588 ECH1 AU NM_001398 exon1 c.105+68A>C 0.556709 0.381 Uncertain 19_39307103_C->T 19 39307103 39307103 C T snp 1163.77 0/1 99 128 68 60 0.47 exonic rs2229259 ECH1 AU nonsynonymous SNV NM_001398 exon7 c.G649A p.G217R 0.0758786 0.0823 0.082193 0.0992 0.0846 0 D 1.000 P -0.830 T 1.0 D 0.988 D Pathogenic 19_39308053_C->T 19 39308053 39308053 C T snp 2325.77 0/1 99 198 101 97 0.49 intronic rs2287954 ECH1 AU NM_001398 exon7 c.1838-37C>T 0.0195687 0.0079 0.007304 0.0262 0.0069 Uncertain 19_39322087_T->G 19 39322087 39322087 T G snp 2725.77 0/1 99 223 110 113 0.51 exonic rs9419 ECH1 AU nonsynonymous SNV NM_001398 exon2 c.A122C p.E41A 0.365016 0.244 0.450946 0.4727 0.2305 0.67 T 0.0 P -0.928 T 0.029 T 0.008 T Pathogenic 19_39328145_A->C 19 39328145 39328145 A C snp 1782.77 0/1 99 156 77 79 0.51 intronic rs2278010 HNRNPL AU NM_001533 exon2 c.758+26A>C 0.338458 0.2351 0.425035 0.4660 0.2266 Uncertain 19_39334811_T->A 19 39334811 39334811 T A snp 840.77 0/1 99 90 55 35 0.39 intronic rs2278011 HNRNPL AU NM_001533 exon9 c.7381+69T>A 0.573882 0.377 Uncertain 19_39334830_C->T 19 39334830 39334830 C T snp 590.77 0/1 99 78 52 26 0.33 intronic rs2278012 HNRNPL AU NM_001533 exon9 c.7381+88C>T 0.574481 0.377 Uncertain 19_39338125_G->A 19 39338125 39338125 G A snp 1575.77 0/1 99 142 72 70 0.49 intronic rs862454 HNRNPL AU NM_001533 exon12 c.10713+51G>A 0.354233 0.2421 0.436414 0.4696 0.2307 Uncertain 19_39338142_A->G 19 39338142 39338142 A G snp 1511.77 0/1 99 127 63 64 0.5 intronic rs862455 HNRNPL AU NM_001533 exon12 c.10713+68A>G 0.57488 0.377 Uncertain 19_39360720_G->A 19 39360720 39360720 G A snp 1784.77 0/1 99 152 85 67 0.44 exonic rs8110393 RINL AU nonsynonymous SNV NM_001195833 exon9 c.C1205T p.P402L 0.694289 0.7619 0.654644 0.6129 0.8219 0.01 T 1.000 P -1.036 T 0.053 T 0.038 T Pathogenic 19_39361658_G->C 19 39361658 39361658 G C snp 1774.77 0/1 99 137 66 71 0.52 intronic rs8100220 RINL AU NM_001195833 exon5 c.1889+26G>C 0.401757 0.619 0.352068 0.3801 0.6140 Uncertain 19_39364415_C->T 19 39364415 39364415 C T snp 253.77 0/1 99 20 11 9 0.45 intronic rs6508823 RINL AU NM_001195833 exon9 c.4782-110C>T 0.700879 0.7679 Uncertain 19_39366899_A->G 19 39366899 39366899 A G snp 1979.77 0/1 99 197 110 87 0.44 intronic rs1529713 RINL AU NM_001195833 exon10 c.7227-71A>G 0.650559 0.7629 Uncertain 19_39367111_T->C 19 39367111 39367111 T C snp 766.77 0/1 99 72 38 34 0.47 exonic rs1001413 RINL AU nonsynonymous SNV NM_001195833 exon3 c.A70G p.N24D 0.41274 0.628 0.3379 0.6773 Pathogenic 19_39372244_C->G 19 39372244 39372244 C G snp 896.77 0/1 99 74 35 39 0.53 intronic rs2082435 SIRT2 AU NM_012237 exon7 c.2337+113C>G 0.385383 0.3601 Uncertain 19_39380030_C->T 19 39380030 39380030 C T snp 2761.77 1/1 99 97 0 97 1.0 intronic rs11667030 SIRT2 AU NM_012237 exon9 c.10001+235C>T 0.354832 0.499 Uncertain 19_39380031_A->G 19 39380031 39380031 A G snp 2666.77 1/1 99 94 0 94 1.0 intronic rs11083483 SIRT2 AU NM_012237 exon9 c.10001+236A>G 0.590256 0.8859 Uncertain 19_39385298_C->T 19 39385298 39385298 C T snp 342.78 1/1 27 9 0 9 1.0 intronic rs4801933 SIRT2 AU NM_012237 exon14 c.14713+791C>T 0.519968 0.8194 Uncertain 19_39385299_C->G 19 39385299 39385299 C G snp 347.78 1/1 27 9 0 9 1.0 intronic rs4801934 SIRT2 AU NM_012237 exon14 c.14713+792C>G 0.520168 0.8194 Uncertain 19_39385532_T->C 19 39385532 39385532 T C snp 6241.77 1/1 99 240 0 240 1.0 intronic rs10410544 SIRT2 AU NM_012237 exon14 c.14713+1025T>C 0.798522 0.9722 0.6912 0.9933 Uncertain 19_39390931_C->G 19 39390931 39390931 C G snp 3034.77 1/1 99 111 0 111 1.0 intronic rs2053071 NFKBIB AU NM_002503 exon1 c.179+80C>G 0.375599 0.5714 Uncertain 19_39398416_A->G 19 39398416 39398416 A G snp 212.77 0/1 99 20 11 9 0.45 intronic rs3136642 NFKBIB AU NM_001243116 exon5 c.2566+117A>G 0.484824 0.6835 Uncertain 19_39400054_-->A 19 39400054 39400054 - A indel 1256.73 0/1 99 77 39 38 0.49 intronic rs11404115 CCER2 AU NM_001243212 exon1 c.90+89insA 0.507588 0.7966 Uncertain 19_39402455_C->G 19 39402455 39402455 C G snp 991.77 0/1 99 75 39 36 0.48 exonic rs76973734 CCER2 AU nonsynonymous SNV NM_001243212 exon2 c.G99C p.E33D 0.199081 0.3075 0.2138 0.3311 Pathogenic 19_39406442_G->A 19 39406442 39406442 G A snp 1493.77 0/1 99 112 50 62 0.55 intronic rs11670675 SARS2 AR NM_001145901 exon2 c.235-38G>A 0.178315 0.2054 0.178000 0.2203 0.1920 Uncertain 19_39407014_C->A 19 39407014 39407014 C A snp 1552.77 1/1 99 48 0 48 1.0 intronic rs4801945 SARS2 AR NM_001145901 exon4 c.709+60C>A 0.526757 0.5595 Uncertain 19_39408360_A->G 19 39408360 39408360 A G snp 1389.77 1/1 99 51 0 51 1.0 splicing rs7508411 SARS2 AR NM_001145901 exon5 c.2118-3A>G 0.834665 0.9742 0.705213 0.7066 0.9718 Pathogenic 19_39408688_C->G 19 39408688 39408688 C G snp 3542.77 1/1 99 126 0 126 1.0 intronic rs4803034 SARS2 AR NM_001145901 exon6 c.2403+40C>G 0.835064 0.9742 0.705597 0.7242 0.9722 Uncertain 19_39409236_C->A 19 39409236 39409236 C A snp 1345.77 1/1 96 46 0 46 1.0 intronic rs11083489 SARS2 AR NM_001145901 exon8 c.2925+66C>A 0.834065 0.9742 Uncertain 19_39409637_C->T 19 39409637 39409637 C T snp 158.77 0/1 99 13 6 7 0.54 intronic rs12459197 SARS2 AR NM_001145901 exon9 c.3208+184C>T 0.227436 0.3075 Uncertain 19_39416887_C->T 19 39416887 39416887 C T snp 1237.77 0/1 99 99 43 56 0.57 exonic rs11544093 SARS2 AR synonymous SNV NM_017827 exon2 c.G321A p.E107E 0.189896 0.3313 0.137398 0.1773 0.3106 Uncertain 19_39416966_G->T 19 39416966 39416966 G T snp 230.77 0/1 99 42 32 10 0.24 intronic rs4803045 SARS2 AR NM_001145901 exon16 c.10695+26G>T 0.217452 0.2192 0.127941 0.2569 0.2016 Uncertain 19_39416967_A->T 19 39416967 39416967 A T snp 222.77 0/1 99 42 32 10 0.24 intronic rs4803046 SARS2 AR NM_001145901 exon16 c.10695+27A>T 0.217452 0.2192 0.129402 0.2570 0.2016 Uncertain 19_39416972_G->T 19 39416972 39416972 G T snp 193.77 0/1 99 40 30 10 0.25 intronic rs148706895 SARS2 AR NM_001145901 exon16 c.10695+32G>T 0.00239617 0.0119 0.0008 0.0108 Uncertain 19_39416973_C->A 19 39416973 39416973 C A snp 228.77 0/1 99 39 29 10 0.26 intronic rs142350896 SARS2 AR NM_001145901 exon16 c.10695+33C>A 0.00239617 0.0119 0.0008 0.0108 Uncertain 19_39421388_A->G 19 39421388 39421388 A G snp 2871.77 1/1 99 92 0 92 1.0 UTR5 rs730078 MRPS12 AU 0.842053 0.9742 0.713813 0.7121 0.9683 Uncertain 19_39433136_-->A 19 39433136 39433136 - A indel 634.73 1/1 48 16 0 16 1.0 UTR3 rs398101208 FBXO17 AU 0.253794 0.4931 Uncertain 19_39433299_A->G 19 39433299 39433299 A G snp 6488.77 1/1 99 241 0 241 1.0 exonic rs8113389 FBXO17 AU synonymous SNV NM_024907 exon6 c.T786C p.Y262Y 0.83726 0.9782 0.708980 0.7096 0.9689 Uncertain 19_39433498_T->- 19 39433498 39433498 T - indel 526.73 1/1 42 22 0 22 1.0 intronic rs11313800 FBXO17 AU NM_024907 exon1 c.144+107delT 0.831869 0.9663 Uncertain 19_39433499_T->G 19 39433499 39433499 T G snp 435.77 0/1 67 17 3 14 0.82 intronic rs57290038 FBXO17 AU NM_024907 exon1 c.144+108T>G 0.831869 0.9663 Uncertain 19_39435485_G->A 19 39435485 39435485 G A snp 905.77 1/1 69 25 0 25 1.0 intronic rs10416055 FBXO17 AU NM_024907 exon2 c.2361-123G>A 0.830471 0.9663 Uncertain 19_39435933_C->G 19 39435933 39435933 C G snp 1217.77 1/1 87 46 0 46 1.0 intronic rs11672849 FBXO17 AU NM_024907 exon2 c.2497+189C>G 0.986422 1 Uncertain 19_39437259_CA->- 19 39437259 39437260 CA - indel 7501.73 1/1 99 157 0 157 1.0 intronic rs10568003 FBXO17 AU NM_024907 exon3 c.3960+52_3960+53delCA 0.572684 0.7212 0.461022 0.4490 0.7443 Uncertain 19_39437270_G->A 19 39437270 39437270 G A snp 3898.77 1/1 99 153 0 153 1.0 intronic rs2278412 FBXO17 AU NM_024907 exon3 c.3960+63G>A 0.831669 0.9663 0.7206 0.9572 Uncertain 19_39440918_T->C 19 39440918 39440918 T C snp 1691.77 1/1 99 58 0 58 1.0 exonic rs2304117 FBXO17 AU synonymous SNV NM_024907 exon2 c.A42G p.P14P 0.47484 0.6796 0.310232 0.5505 0.7009 Uncertain 19_39440966_T->C 19 39440966 39440966 T C snp 943.77 1/1 69 29 0 29 1.0 exonic rs2304118 FBXO17 AU synonymous SNV NM_148169 exon2 c.A21G p.L7L 0.47504 0.6796 0.308196 0.5176 0.625 Uncertain 19_39443372_C->T 19 39443372 39443372 C T snp 2399.77 0/1 99 213 101 112 0.53 intronic rs77735144 FBXO17 AU NM_148169 exon6 c.10080+45C>T 0.0279553 Uncertain 19_39443562_C->T 19 39443562 39443562 C T snp 504.77 0/1 99 38 19 19 0.5 intronic rs80291723 FBXO17 AU NM_148169 exon6 c.10080+235C>T 0.0115815 Uncertain 19_39443577_A->T 19 39443577 39443577 A T snp 901.77 1/1 66 25 0 25 1.0 intronic rs12608890 FBXO17 AU NM_148169 exon6 c.10080+250A>T 0.35643 0.6081 Uncertain 19_39515939_T->C 19 39515939 39515939 T C snp 172.9 1/1 15 5 0 5 1.0 UTR3 rs533573 FBXO27 AU 0.892372 0.8859 Uncertain 19_39517715_C->T 19 39517715 39517715 C T snp 114.77 0/1 99 10 5 5 0.5 intronic rs57724551 FBXO27 AU NM_178820 exon2 c.1595+70C>T 0.263578 0.381 Uncertain 19_39522891_T->C 19 39522891 39522891 T C snp 305.77 0/1 99 26 14 12 0.46 UTR5 rs3848623 FBXO27 AU 0.427516 0.4812 0.5155 0.55 Uncertain 19_39589334_G->A 19 39589334 39589334 G A snp 2173.77 1/1 99 77 1 76 0.99 intronic rs560364 PAPL AU NM_001004318 exon3 c.13389+36G>A 0.79972 0.8026 0.830767 0.8075 0.8248 Uncertain 19_39589518_T->C 19 39589518 39589518 T C snp 485.77 0/1 99 49 31 18 0.37 intronic rs190998143 PAPL AU NM_001004318 exon4 c.13690-81T>C 0.138978 0.1468 Uncertain 19_39589521_ACCAGTCGGGGAAGGATGGGGTTGGAGGGAGGG->- 19 39589521 39589553 ACCAGTCGGGGAAGGATGGGGTTGGAGGGAGGG - indel 6796.73 0/1 99 54 34 20 0.37 intronic rs371296886 PAPL AU NM_001004318 exon4 c.13690-78_13690-46delACCAGTCGGGGAAGGATGGGGTTGGAGGGAGGG 0.14397 0.1488 Uncertain 19_39589870_G->- 19 39589870 39589870 G - indel 277.73 0/1 99 27 10 17 0.63 intronic rs11326424 PAPL AU NM_001004318 exon4 c.13873+88delG 0.333466 0.245 Uncertain 19_39590761_G->A 19 39590761 39590761 G A snp 743.77 1/1 57 20 0 20 1.0 intronic rs774909 PAPL AU NM_001004318 exon5 c.14957-105G>A 0.814097 0.8026 Uncertain 19_39590955_G->A 19 39590955 39590955 G A snp 2799.77 0/1 99 250 125 125 0.5 exonic rs8110736 PAPL AU synonymous SNV NM_001004318 exon5 c.G594A p.P198P 0.63119 0.6518 0.642857 0.6150 0.6640 Uncertain 19_39592138_C->T 19 39592138 39592138 C T snp 1878.77 0/1 99 172 95 77 0.45 exonic rs1313617 PAPL AU synonymous SNV NM_001004318 exon11 c.C1074T p.T358T 0.226837 0.1488 0.247732 0.2091 0.1624 Uncertain 19_39597902_C->T 19 39597902 39597902 C T snp 77.77 0/1 99 7 4 3 0.43 intronic rs62120479 PAPL AU NM_001004318 exon12 c.21815+178C>T 0.179712 0.1429 Uncertain 19_39687592_T->C 19 39687592 39687592 T C snp 353.78 1/1 27 15 0 15 1.0 upstream rs12462614 NCCRP1 AU 0.38139 0.4315 0.323141 0.4098 0.5273 Uncertain 19_39688815_C->T 19 39688815 39688815 C T snp 1430.77 1/1 99 56 0 56 1.0 intronic rs12610064 NCCRP1 AU NM_001001414 exon3 c.1219-26C>T 0.369209 0.4206 0.356143 0.3581 0.4581 Uncertain 19_39688901_G->T 19 39688901 39688901 G T snp 1270.77 1/1 93 47 0 47 1.0 intronic rs12610093 NCCRP1 AU NM_001001414 exon3 c.1271+8G>T 0.366214 0.4196 0.352683 0.3574 0.4562 Uncertain 19_39689943_G->A 19 39689943 39689943 G A snp 1316.77 1/1 96 39 0 39 1.0 intronic rs12610530 NCCRP1 AU NM_001001414 exon4 c.2283+38G>A 0.382588 0.4236 0.362756 0.3679 0.4666 Uncertain 19_39691136_C->A 19 39691136 39691136 C A snp 4044.77 1/1 99 134 1 133 0.99 intronic rs11672471 NCCRP1 AU NM_001001414 exon5 c.3502+12C>A 0.381589 0.4236 0.361064 0.3625 0.4617 Uncertain 19_39691216_A->T 19 39691216 39691216 A T snp 7198.77 1/1 99 250 0 250 1.0 intronic rs11672475 NCCRP1 AU NM_001001414 exon6 c.3633-39A>T 0.320288 0.4236 0.312241 0.3413 0.4615 Uncertain 19_39691239_A->G 19 39691239 39691239 A G snp 7657.77 1/1 99 249 0 249 1.0 intronic rs11672479 NCCRP1 AU NM_001001414 exon6 c.3633-16A>G 0.388778 0.4236 0.370675 0.3632 0.4621 Uncertain 19_39760069_G->C 19 39760069 39760069 G C snp 1699.77 1/1 99 45 0 45 1.0 intronic rs30481 IFNL2 AU NM_172138 exon4 c.919-58G>C 0.998802 1 Uncertain 19_39789115_A->G 19 39789115 39789115 A G snp 2861.77 0/1 99 250 136 114 0.46 exonic rs30461 IFNL1 AU nonsynonymous SNV NM_172140 exon5 c.A562G p.N188D 0.251597 0.0377 0.280025 0.1362 0.0415 1 T 0.0 P -0.985 T 0.0 T 0.0 T Pathogenic 19_39819527_C->A 19 39819527 39819527 C A snp 187.77 0/1 99 37 28 9 0.24 intronic rs3837980 GMFG AU NM_001301008 exon2 c.523-112C>A 0.199481 0.1091 Uncertain 19_39819802_G->T 19 39819802 39819802 G T snp 295.77 0/1 99 22 10 12 0.55 intronic rs28668750 GMFG AU NM_001301008 exon2 c.597+89G>T 0.198283 0.1101 Uncertain 19_39826479_G->A 19 39826479 39826479 G A snp 156.77 0/1 99 9 3 6 0.67 intronic rs3786949 GMFG AU NM_001301008 exon6 c.7497-134G>A 0.139976 0.0675 Uncertain 19_39826838_C->G 19 39826838 39826838 C G snp 77.77 0/1 99 10 6 4 0.4 upstream rs251906 GMFG AU 0.259185 0.1022 Uncertain 19_39860219_C->T 19 39860219 39860219 C T snp 958.77 0/1 99 87 47 40 0.46 intronic rs16973363 SAMD4B AU NM_018028 exon6 c.12761-75C>T 0.048123 0.0456 Uncertain 19_39860776_G->T 19 39860776 39860776 G T snp 452.77 0/1 99 34 17 17 0.5 intronic rs149927770 SAMD4B AU NM_018028 exon6 c.13232+11G>T 0.00199681 0.0099 0.0009 0.0125 Uncertain 19_39866245_T->G 19 39866245 39866245 T G snp 2081.77 0/1 99 201 113 88 0.44 intronic rs75754418 SAMD4B AU NM_018028 exon7 c.18756-44T>G 0.0483227 0.0456 0.029487 0.0197 0.0379 Uncertain 19_39869047_T->G 19 39869047 39869047 T G snp 168.77 0/1 99 15 8 7 0.47 intronic rs73547916 SAMD4B AU NM_018028 exon11 c.21610-96T>G Uncertain 19_39870486_C->T 19 39870486 39870486 C T snp 222.77 0/1 99 16 8 8 0.5 intronic rs57479776 SAMD4B AU NM_018028 exon12 c.23072-119C>T 0.0766773 0.0456 Uncertain 19_39870795_G->- 19 39870795 39870795 G - indel 184.73 0/1 99 19 11 8 0.42 intronic SAMD4B AU NM_018028 exon12 c.23191+71delG Uncertain 19_39874100_G->C 19 39874100 39874100 G C snp 985.77 0/1 99 91 48 43 0.47 intronic rs75463758 SAMD4B AU NM_018028 exon16 c.26605-38G>C 0.0479233 0.0446 0.033831 0.0186 0.0374 Uncertain 19_39877605_T->C 19 39877605 39877605 T C snp 323.77 0/1 99 26 15 11 0.42 intronic rs59446951 PAF1 AU NM_019088 exon3 c.809+166T>C 0.0684904 0.0466 Uncertain 19_39879144_C->T 19 39879144 39879144 C T snp 2836.77 0/1 99 248 135 113 0.46 intronic rs2067102 PAF1 AU NM_019088 exon4 c.2477+37C>T 0.0479233 0.0446 0.035445 0.0202 0.0376 Uncertain 19_39879663_A->G 19 39879663 39879663 A G snp 2146.77 0/1 99 143 60 83 0.58 intronic rs40353 PAF1 AU NM_019088 exon7 c.3025+8A>G 0.25599 0.0853 0.268568 0.1225 0.0828 Uncertain 19_39880011_G->A 19 39880011 39880011 G A snp 2331.77 0/1 99 169 76 93 0.55 exonic rs2074852 PAF1 AU synonymous SNV NM_001256826 exon5 c.C342T p.H114H 0.0654952 0.0466 0.058973 0.0418 0.0379 Uncertain 19_39912037_G->A 19 39912037 39912037 G A snp 317.77 0/1 99 19 7 12 0.63 intronic rs60249181 PLEKHG2 AR NM_022835 exon16 c.7213+98G>A 0.048123 0.0288 Uncertain 19_39914308_C->T 19 39914308 39914308 C T snp 2324.77 0/1 99 198 94 104 0.53 intronic rs31725 PLEKHG2 AR NM_022835 exon18 c.9567+15C>T 0.579073 0.5585 0.519991 0.5017 0.5428 Uncertain 19_39914748_G->A 19 39914748 39914748 G A snp 7010.77 1/1 99 250 0 250 1.0 exonic rs31726 PLEKHG2 AR nonsynonymous SNV NM_022835 exon19 c.G2975A p.R992K 0.575879 0.5962 0.522605 0.5083 0.5727 0.000 P -0.924 T 0.004 T 0.009 T Pathogenic 19_39915637_G->A 19 39915637 39915637 G A snp 2881.77 1/1 99 97 0 97 1.0 exonic rs31727 PLEKHG2 AR synonymous SNV NM_022835 exon19 c.G3864A p.Q1288Q 0.596845 0.5962 0.558059 0.5511 0.5746 1.000 P -0.925 T Likely benign 19_39915758_C->G 19 39915758 39915758 C G snp 2814.77 1/1 99 101 0 101 1.0 exonic rs31728 PLEKHG2 AR nonsynonymous SNV NM_022835 exon19 c.C3985G p.P1329A 0.592252 0.6002 0.578332 0.5527 0.5725 1.000 P -0.846 T 0.999 D 0.991 D Pathogenic 19_39915958_A->G 19 39915958 39915958 A G snp 2465.77 0/1 99 196 88 108 0.55 UTR3 rs56845315 PLEKHG2 AR 0.0770767 0.0298 0.058754 0.0213 0.0284 0.0 P -1.047 T 0.005 T 0.003 T Uncertain 19_39916111_GGA->- 19 39916111 39916113 GGA - indel 1567.73 1/1 81 43 0 43 1.0 UTR3 rs16746 PLEKHG2 AR 0.649161 0.5962 Uncertain 19_39923952_G->A 19 39923952 39923952 G A snp 367.77 0/1 99 23 11 12 0.52 exonic rs17627 RPS16 AU synonymous SNV NM_001020 exon5 c.C402T p.G134G 0.240815 0.0764 0.258112 0.2104 0.0618 Uncertain 19_39924129_T->C 19 39924129 39924129 T C snp 6883.77 1/1 99 238 0 238 1.0 intronic rs566130 RPS16 AU NM_001020 exon2 c.249-32T>C 0.654553 0.5873 0.613179 0.5721 0.5629 Uncertain 19_39926509_A->C 19 39926509 39926509 A C snp 3467.77 1/1 99 124 0 124 1.0 exonic rs17628 RPS16 AU synonymous SNV NM_001020 exon1 c.T27G p.S9S 0.511382 0.5506 0.442787 0.3972 0.5364 Uncertain 19_39926521_G->A 19 39926521 39926521 G A snp 2886.77 1/1 99 102 1 101 0.99 exonic rs17626 RPS16 AU synonymous SNV NM_001020 exon1 c.C15T p.G5G 0.511581 0.5506 0.442787 0.3975 0.5360 Uncertain 19_39926601_C->T 19 39926601 39926601 C T snp 438.77 1/1 33 13 0 13 1.0 UTR5 rs640000 RPS16 AU 0.513179 0.5506 0.429167 Uncertain 19_39932023_T->C 19 39932023 39932023 T C snp 782.77 0/1 99 76 42 34 0.45 intergenic rs1865090 RPS16 AU 0.242013 0.3869 0.2364 0.3788 -0.949 T Uncertain 19_39932066_T->C 19 39932066 39932066 T C snp 1275.77 1/1 90 47 0 47 1.0 intergenic rs1865091 RPS16 AU 0.639976 0.5794 0.5811 0.5455 -1.016 T Uncertain 19_39936502_G->A 19 39936502 39936502 G A snp 6838.77 1/1 99 250 0 250 1.0 UTR5 rs1932 SUPT5H AU 0.636581 0.5724 0.598877 0.5823 0.5609 Uncertain 19_39936693_C->T 19 39936693 39936693 C T snp 1445.77 1/1 99 37 0 37 1.0 intronic rs2116932 SUPT5H AU NM_001130825 exon2 c.75+88C>T 0.636581 0.5734 Uncertain 19_39944082_C->T 19 39944082 39944082 C T snp 1193.77 1/1 87 46 0 46 1.0 exonic rs1130180 SUPT5H AU synonymous SNV NM_003169 exon2 c.C162T p.Y54Y 0.623003 0.5675 0.591028 0.5976 0.6085 Uncertain 19_39944189_A->T 19 39944189 39944189 A T snp 198.77 0/1 99 33 22 11 0.33 intronic rs57355849 SUPT5H AU NM_001130825 exon3 c.7631+28A>T 0.0704872 0.0298 0.057653 0.0394 0.0308 Uncertain 19_39949437_C->T 19 39949437 39949437 C T snp 581.77 0/1 99 52 28 24 0.46 intronic rs60889515 SUPT5H AU NM_001130825 exon5 c.12927-20C>T 0.0706869 0.0298 0.061510 0.0220 0.0275 Uncertain 19_39949764_C->T 19 39949764 39949764 C T snp 3590.77 1/1 99 129 0 129 1.0 intronic rs1529733 SUPT5H AU NM_001130825 exon6 c.13183+51C>T 0.495407 0.4613 0.429340 0.4289 0.4610 Uncertain 19_39955791_T->C 19 39955791 39955791 T C snp 180.9 1/1 15 5 0 5 1.0 intronic rs1560730 SUPT5H AU NM_001130825 exon10 c.19159+102T>C 0.649161 0.5724 Uncertain 19_39957030_C->T 19 39957030 39957030 C T snp 279.78 1/1 24 8 0 8 1.0 intronic rs4802030 SUPT5H AU NM_001130825 exon11 c.20589-89C>T 0.493011 0.4613 Uncertain 19_39963318_T->A 19 39963318 39963318 T A snp 401.77 1/1 30 13 0 13 1.0 intronic rs2304219 SUPT5H AU NM_001130825 exon21 c.26919-131T>A 0.631789 0.5724 Uncertain 19_39963828_T->A 19 39963828 39963828 T A snp 6780.77 1/1 99 241 0 241 1.0 intronic rs45568533 SUPT5H AU NM_001130825 exon23 c.27312-14T>A 0.493011 0.4613 0.427484 0.4245 0.4557 Uncertain 19_39964247_G->A 19 39964247 39964247 G A snp 202.84 1/1 18 6 0 6 1.0 intronic rs4803244 SUPT5H AU NM_001130825 exon24 c.27631+86G>A 0.495208 0.4613 Uncertain 19_39971622_C->G 19 39971622 39971622 C G snp 604.77 1/1 45 19 0 19 1.0 intronic rs2304221 TIMM50 AU NM_001001563 exon1 c.417+21C>G 0.655152 0.5724 0.647365 0.5987 0.5759 Uncertain 19_39972766_G->A 19 39972766 39972766 G A snp 3969.77 1/1 99 138 0 138 1.0 intronic rs62120691 TIMM50 AU NM_001001563 exon2 c.1489+93G>A 0.492812 0.4613 Uncertain 19_39973321_A->G 19 39973321 39973321 A G snp 136.03 1/1 12 4 0 4 1.0 intronic rs117319874 TIMM50 AU NM_001001563 exon3 c.2340-203A>G 0.0319489 0.0903 Uncertain 19_39976464_C->G 19 39976464 39976464 C G snp 1657.77 1/1 99 59 0 59 1.0 intronic rs4803245 TIMM50 AU NM_001001563 exon6 c.5263+17C>G 0.600492 0.5737 0.5543 Uncertain 19_39976684_T->C 19 39976684 39976684 T C snp 252.8 1/1 21 7 0 7 1.0 intronic rs4803246 TIMM50 AU NM_001001563 exon7 c.5642-142T>C 0.640575 0.5754 Uncertain 19_39976734_G->A 19 39976734 39976734 G A snp 703.77 1/1 54 20 0 20 1.0 intronic rs4803247 TIMM50 AU NM_001001563 exon7 c.5642-92G>A 0.639377 0.5734 Uncertain 19_39976969_T->C 19 39976969 39976969 T C snp 1847.77 0/1 99 174 100 74 0.43 intronic rs1865094 TIMM50 AU NM_001001563 exon7 c.5747+38T>C 0.40615 0.3988 0.371060 0.4155 0.3978 Uncertain 19_39977173_G->A 19 39977173 39977173 G A snp 359.77 0/1 99 27 14 13 0.48 intronic rs8112528 TIMM50 AU NM_001001563 exon8 c.5951+38G>A 0.186102 0.0714 0.197755 0.2049 0.0577 Uncertain 19_39978611_TGTA->- 19 39978611 39978614 TGTA - indel 4561.73 1/1 99 73 0 73 1.0 intronic rs10581377 TIMM50 AU NM_001001563 exon9 c.7516-89_7516-86delTGTA 0.635383 0.5665 Uncertain 19_39991067_C->G 19 39991067 39991067 C G snp 90.77 0/1 99 11 7 4 0.36 intronic DLL3 AR NM_203486 exon3 c.1640-187C>G Uncertain 19_40009466_G->T 19 40009466 40009466 G T snp 1519.77 0/1 99 125 57 68 0.54 intronic rs28596775 SELV AU NM_182704 exon3 c.3581+33G>T 0.103035 0.1419 0.110113 0.1016 0.1528 Uncertain 19_40023088_T->G 19 40023088 40023088 T G snp 2927.77 0/1 99 250 138 112 0.45 exonic rs34110322 EID2B AU synonymous SNV NM_152361 exon1 c.A355C p.R119R 0.0609026 0.1915 0.027833 0.0258 0.2058 Uncertain 19_40023308_A->G 19 40023308 40023308 A G snp 2692.77 1/1 99 93 0 93 1.0 exonic rs1123301 EID2B AU synonymous SNV NM_152361 exon1 c.T135C p.A45A 0.801318 0.8442 0.778998 0.7529 0.8074 Uncertain 19_40030704_C->T 19 40030704 40030704 C T snp 627.77 0/1 99 65 36 29 0.45 exonic rs7252027 EID2 AU nonsynonymous SNV NM_153232 exon1 c.G16A p.A6T 0.198682 0.244 0.165771 0.2465 0.2366 0.19 T 0.002 P -1.097 T 0.938 T 0.363 D Pathogenic 19_40093111_C->A 19 40093111 40093111 C A snp 960.77 0/1 99 79 44 35 0.44 upstream rs3764843 LGALS13 AU 0.751597 0.6488 Uncertain 19_40096127_C->T 19 40096127 40096127 C T snp 230.77 0/1 99 15 7 8 0.53 intronic rs2233709 LGALS13 AU NM_013268 exon3 c.2820+99C>T 0.467053 0.3155 Uncertain 19_40097690_C->T 19 40097690 40097690 C T snp 147.77 0/1 99 10 4 6 0.6 intronic rs17795657 LGALS13 AU NM_013268 exon4 c.4654-172C>T 0.128594 0.1786 Uncertain 19_40149297_T->A 19 40149297 40149297 T A snp 3666.77 1/1 99 122 0 122 1.0 exonic rs1860134 LGALS16 AU nonsynonymous SNV NM_001190441 exon3 c.T290A p.L97H 1 1 1 1 0.18 T 0.0 P -0.981 T 0.0 T 0.0 T Pathogenic 19_40149330_G->C 19 40149330 40149330 G C snp 1268.77 0/1 99 84 34 50 0.6 intronic rs997104 LGALS16 AU NM_001190441 exon3 c.2709+20G>C 0.362819 0.3532 0.4077 0.4344 Uncertain 19_40170053_G->A 19 40170053 40170053 G A snp 1130.77 0/1 99 82 37 45 0.55 ncRNA_exonic rs8103033 LGALS17A AU 0.253594 0.2877 0.270258 Uncertain 19_40196627_G->A 19 40196627 40196627 G A snp 746.77 0/1 99 64 31 33 0.52 exonic rs72480733 LGALS14 AU nonsynonymous SNV NM_203471 exon2 c.G80A p.R27H 0.150958 0.3968 0.046209 0.1176 0.3960 0.08 T 0.0 P -0.903 T 0.975 D 0.105 D Pathogenic 19_40354067_T->C 19 40354067 40354067 T C snp 1036.77 0/1 99 95 53 42 0.44 UTR3 rs2405 FCGBP AU 0.238219 0.2808 0.198642 Uncertain 19_40354576_C->A 19 40354576 40354576 C A snp 972.77 0/1 99 65 33 32 0.49 intronic rs2302523 FCGBP AU NM_003890 exon2 c.406+44C>A 0.252796 0.2788 0.215308 0.2355 0.2728 Uncertain 19_40357247_A->G 19 40357247 40357247 A G snp 177.77 0/1 99 36 28 8 0.22 intronic rs887806 FCGBP AU NM_003890 exon3 c.3250-129A>G 0.230831 0.2788 Uncertain 19_40357341_A->G 19 40357341 40357341 A G snp 1083.77 0/1 99 149 94 55 0.37 intronic rs4436880 FCGBP AU NM_003890 exon3 c.3250-35A>G 0.210863 0.2788 0.174381 0.2176 0.2697 Uncertain 19_40357360_C->G 19 40357360 40357360 C G snp 1414.77 0/1 99 171 104 67 0.39 intronic rs2075097 FCGBP AU NM_003890 exon3 c.3250-16C>G 0.207268 0.2788 0.172690 0.2213 0.2710 Uncertain 19_40357683_T->G 19 40357683 40357683 T G snp 1253.77 0/1 99 124 68 56 0.45 exonic rs759120 FCGBP AU synonymous SNV NM_003890 exon34 c.A15630C p.A5210A 0.230431 0.2788 0.196909 0.2295 0.2703 Uncertain 19_40357824_G->C 19 40357824 40357824 G C snp 77.77 0/1 99 8 4 4 0.5 intronic rs759121 FCGBP AU NM_003890 exon3 c.3634+64G>C 0.230631 0.2788 Uncertain 19_40361112_G->T 19 40361112 40361112 G T snp 139.03 1/1 12 5 0 5 1.0 intronic rs3760931 FCGBP AU NM_003890 exon4 c.6929+57G>T 0.555911 0.7421 Uncertain 19_40362492_C->G 19 40362492 40362492 C G snp 96.28 1/1 9 3 0 3 1.0 intronic rs1865119 FCGBP AU NM_003890 exon5 c.8591-225C>G 0.72524 0.7817 Uncertain 19_40362573_A->G 19 40362573 40362573 A G snp 1328.77 1/1 99 35 0 35 1.0 intronic rs10422312 FCGBP AU NM_003890 exon5 c.8591-144A>G 0.751597 0.7827 Uncertain 19_40363020_G->A 19 40363020 40363020 G A snp 4621.77 1/1 99 166 1 165 0.99 exonic rs741143 FCGBP AU nonsynonymous SNV NM_003890 exon32 c.C15050T p.A5017V 0.275559 0.5367 0.205661 0.2431 0.5526 1 T 0.0 P -1.013 T 0.644 T 0.246 P Pathogenic 19_40363926_C->G 19 40363926 40363926 C G snp 6271.77 1/1 99 222 0 222 1.0 exonic rs3746013 FCGBP AU nonsynonymous SNV NM_003890 exon31 c.G14716C p.D4906H 0.288339 0.5387 0.218438 0.2407 0.5503 0.56 T 0.0 P -0.925 T 0.997 D 0.984 D Pathogenic 19_40366362_G->C 19 40366362 40366362 G C snp 1456.77 1/1 99 50 0 50 1.0 exonic rs3855679 FCGBP AU synonymous SNV NM_003890 exon30 c.C13872G p.L4624L 0.7502 0.7857 0.721803 0.6759 0.7812 Uncertain 19_40366374_G->C 19 40366374 40366374 G C snp 693.77 0/1 99 47 18 29 0.62 exonic rs2053089 FCGBP AU synonymous SNV NM_003890 exon30 c.C13860G p.P4620P 0.126198 0.0466 0.186356 0.2047 0.0472 Uncertain 19_40366603_-->GC 19 40366603 40366603 - GC indel 1175.73 0/1 99 54 23 31 0.57 intronic rs3061825 FCGBP AU NM_003890 exon7 c.12445+32insGC 0.289337 0.5397 0.222377 0.2500 0.5405 Uncertain 19_40367862_T->C 19 40367862 40367862 T C snp 633.77 1/1 48 23 0 23 1.0 exonic rs6508920 FCGBP AU synonymous SNV NM_003890 exon29 c.A13098G p.P4366P 0.723442 0.7659 0.5662 0.7550 Uncertain 19_40368274_C->A 19 40368274 40368274 C A snp 788.77 0/1 99 56 14 42 0.75 intronic rs578232801 FCGBP AU NM_003890 exon9 c.14176-28C>A 0.421725 0.4077 0.5175 0.4976 Uncertain 19_40368280_A->G 19 40368280 40368280 A G snp 1068.77 0/1 99 65 13 52 0.8 intronic rs62106924 FCGBP AU NM_003890 exon9 c.14176-22A>G 0.423722 0.4097 0.5172 0.4979 Uncertain 19_40368330_C->T 19 40368330 40368330 C T snp 290.77 0/1 99 114 90 24 0.21 exonic rs74540349 FCGBP AU nonsynonymous SNV NM_003890 exon28 c.G13018A p.E4340K 0.1964 0.3704 0.61 T 0.0 P -1.105 T 0.005 T 0.001 T Pathogenic 19_40368395_C->T 19 40368395 40368395 C T snp 2533.77 0/1 99 138 25 113 0.82 exonic rs28472548 FCGBP AU nonsynonymous SNV NM_003890 exon28 c.G12953A p.R4318H 0.608826 0.7252 0.5441 0.6457 0.17 T 0.0 P -0.914 T 0.0 T 0.001 T Pathogenic 19_40368478_G->A 19 40368478 40368478 G A snp 382.77 0/1 99 85 64 21 0.25 exonic rs77170940 FCGBP AU synonymous SNV NM_003890 exon28 c.C12870T p.P4290P 0.2830 0.1655 Uncertain 19_40368498_A->C 19 40368498 40368498 A C snp 1426.77 1/1 99 58 0 58 1.0 exonic rs12610683 FCGBP AU nonsynonymous SNV NM_003890 exon28 c.T12850G p.S4284A 0.995208 0.998 0.9655 0.9728 0.57 T 0.0 P -0.993 T 0.0 T 0.0 T Pathogenic 19_40368499_A->C 19 40368499 40368499 A C snp 1381.77 1/1 96 57 1 56 0.98 exonic rs11083540 FCGBP AU synonymous SNV NM_003890 exon28 c.T12849G p.L4283L 0.995208 0.998 0.9655 0.9728 Uncertain 19_40368520_G->C 19 40368520 40368520 G C snp 1254.77 1/1 90 50 1 49 0.98 exonic rs36079378 FCGBP AU synonymous SNV NM_003890 exon28 c.C12828G p.G4276G 0.47484 0.5853 0.4225 0.6356 Uncertain 19_40373874_T->G 19 40373874 40373874 T G snp 200.8 1/1 21 10 2 8 0.8 intronic rs75805471 FCGBP AU NM_003890 exon11 c.19818-70T>G Uncertain 19_40374034_A->G 19 40374034 40374034 A G snp 624.77 1/1 51 100 61 39 0.39 exonic rs138587194 FCGBP AU nonsynonymous SNV NM_003890 exon26 c.T12044C p.V4015A 0.5523 0.5252 0.82 T 0.0 P -0.948 T 0.0 T 0.001 T Pathogenic 19_40376261_A->G 19 40376261 40376261 A G snp 497.77 1/1 48 39 0 39 1.0 intronic rs137870031 FCGBP AU NM_003890 exon12 c.22186-51A>G 0.655152 0.7083 Uncertain 19_40376662_G->C 19 40376662 40376662 G C snp 215.77 0/1 99 137 75 62 0.45 exonic rs2542318 FCGBP AU nonsynonymous SNV NM_003890 exon24 c.C11760G p.H3920Q 0.1248 0.3026 0.0014 0.0051 0.61 T 1 N -0.987 T 0.001 T 0.003 T Pathogenic 19_40376880_T->C 19 40376880 40376880 T C snp 35.74 1/1 6 10 0 10 1.0 exonic rs75009537 FCGBP AU nonsynonymous SNV NM_003890 exon24 c.A11542G p.K3848E 0.555511 0.6825 0.382860 0.3298 0.6224 0.06 T 0.0 P -0.952 T 0.0 T 0.0 T Pathogenic 19_40376881_G->C 19 40376881 40376881 G C snp 35.74 1/1 6 10 0 10 1.0 exonic rs74819672 FCGBP AU nonsynonymous SNV NM_003890 exon24 c.C11541G p.D3847E 0.310304 0.2302 0.0229 0.0201 0.19 T 1 N -1.011 T 0.0 T 0.0 T Pathogenic 19_40389581_G->T 19 40389581 40389581 G T snp 201.77 0/1 99 48 33 15 0.31 intronic rs143411450 FCGBP AU NM_003890 exon19 c.35525-70G>T Uncertain 19_40392359_T->C 19 40392359 40392359 T C snp 3031.77 1/1 99 151 0 151 1.0 exonic rs2569779 FCGBP AU synonymous SNV NM_003890 exon16 c.A8145G p.A2715A 0.999601 1 0.9986 0.9951 Uncertain 19_40392482_A->G 19 40392482 40392482 A G snp 323.77 0/1 99 74 43 31 0.42 exonic rs62108883 FCGBP AU synonymous SNV NM_003890 exon16 c.T8022C p.S2674S 0.7343 0.4192 Uncertain 19_40392585_T->G 19 40392585 40392585 T G snp 136.77 0/1 99 52 35 17 0.33 exonic rs2542321 FCGBP AU nonsynonymous SNV NM_003890 exon16 c.A7919C p.E2640A 0.326078 0.2917 0.3552 0.3133 0.49 T 0.0 P -0.964 T 0.057 T 0.074 T Pathogenic 19_40392588_C->T 19 40392588 40392588 C T snp 345.77 0/1 99 53 36 17 0.32 exonic rs62108885 FCGBP AU nonsynonymous SNV NM_003890 exon16 c.G7916A p.S2639N 0.148876 0.1660 0.0452 0.5 T 1 N -1.042 T 0.65 T 0.306 P Pathogenic 19_40411889_C->T 19 40411889 40411889 C T snp 1708.77 0/1 99 142 67 75 0.53 exonic rs150702395 FCGBP AU nonsynonymous SNV NM_003890 exon7 c.G3739A p.V1247M 0.00139776 0.0069 0.000154 0.0010 0.0133 0.1 T 0.961 N -1.057 T 0.998 D 0.965 D Pathogenic 19_40711333_A->G 19 40711333 40711333 A G snp 942.77 1/1 69 28 0 28 1.0 intronic rs892117 MAP3K10 AU NM_002446 exon4 c.13265+130A>G 0.408147 0.494 Uncertain 19_40719076_T->C 19 40719076 40719076 T C snp 6367.77 1/1 99 237 0 237 1.0 exonic rs1129156 MAP3K10 AU synonymous SNV NM_002446 exon8 c.T1818C p.F606F 0.757188 0.6974 0.751695 0.7450 0.7036 Uncertain 19_40719410_C->T 19 40719410 40719410 C T snp 4182.77 1/1 99 159 0 159 1.0 intronic rs3746006 MAP3K10 AU NM_002446 exon9 c.21485-13C>T 0.284744 0.4335 0.224329 0.3270 0.4582 Uncertain 19_40720079_C->T 19 40720079 40720079 C T snp 1000.77 1/1 72 38 0 38 1.0 exonic rs3746005 MAP3K10 AU synonymous SNV NM_002446 exon9 c.C2493T p.D831D 0.749601 0.6974 0.809611 0.7945 0.7719 Uncertain 19_40721877_G->C 19 40721877 40721877 G C snp 176.9 1/1 15 5 0 5 1.0 downstream rs8106744 MAP3K10 AU 0.76238 0.6994 Uncertain 19_40728935_T->G 19 40728935 40728935 T G snp 1215.77 0/1 99 90 41 49 0.54 UTR3 rs2304185 CNTD2 AU 0.117212 0.1399 0.107315 0.1121 0.1271 Uncertain 19_40739513_A->G 19 40739513 40739513 A G snp 3505.77 1/1 99 129 0 129 1.0 UTR3 rs33933140 AKT2 AD 0.42492 0.502 0.393443 0.4851 0.5163 0.24 T 0.0 P -0.898 T Uncertain 19_40739721_G->T 19 40739721 40739721 G T snp 3702.77 1/1 99 141 1 140 0.99 UTR3 rs2304186 AKT2 AD 0.419129 0.4841 0.388743 Uncertain 19_40742320_T->C 19 40742320 40742320 T C snp 1571.77 1/1 99 60 0 60 1.0 intronic rs2304189 AKT2 AD NM_001243028 exon5 c.2514+28T>C 0.74381 0.6776 0.734507 0.7165 0.6804 Uncertain 19_40770982_T->C 19 40770982 40770982 T C snp 172.9 1/1 15 5 0 5 1.0 intronic rs3730050 AKT2 AD NM_001626 exon13 c.31350-146T>C 0.745407 0.6726 Uncertain 19_40788641_T->C 19 40788641 40788641 T C snp 401.77 1/1 30 15 0 15 1.0 intronic rs11880261 AKT2 AD NM_001243028 exon13 c.51309-2446T>C 0.783746 0.6746 Uncertain 19_40839664_A->C 19 40839664 40839664 A C snp 396.77 1/1 30 13 0 13 1.0 intronic rs8103796 C19orf47 AU NM_001256440 exon5 c.11969-93A>C 0.980831 1 Uncertain 19_40872964_G->A 19 40872964 40872964 G A snp 176.77 0/1 99 14 8 6 0.43 intronic rs7258698 PLD3 AU NM_001031696 exon5 c.432+142G>A 0.129393 0.1458 Uncertain 19_40875800_C->G 19 40875800 40875800 C G snp 356.77 0/1 99 24 9 15 0.63 ncRNA_exonic rs3745198 MIR6796 AU 0.383387 0.5268 0.277561 0.5337 0.5707 Uncertain 19_40875810_C->G 19 40875810 40875810 C G snp 402.77 0/1 99 28 10 18 0.64 ncRNA_exonic;splicing rs3745199 MIR6796;PLD3 UN 0.382987 0.5268 0.273117 0.5310 0.5832 Uncertain 19_40882486_C->G 19 40882486 40882486 C G snp 321.77 0/1 99 21 10 11 0.52 intronic rs3745200 PLD3 AU NM_001031696 exon11 c.10125-29C>G 0.157748 0.2579 0.167307 0.1817 0.2377 Uncertain 19_40884160_G->A 19 40884160 40884160 G A snp 834.77 0/1 99 77 40 37 0.48 UTR3 rs4635 PLD3 AU 0.568291 0.6875 0.6310 0.7117 Uncertain 19_40886993_C->T 19 40886993 40886993 C T snp 3404.77 0/1 99 250 119 131 0.52 exonic rs11670988 HIPK4 AU nonsynonymous SNV NM_144685 exon3 c.G905A p.R302Q 0.0740815 0.1736 0.071671 0.0932 0.1708 0.11 T 0.812 P -1.047 T 0.95 T 0.342 D Pathogenic 19_40889743_C->T 19 40889743 40889743 C T snp 1461.77 0/1 99 154 88 66 0.43 exonic rs200561773 HIPK4 AU nonsynonymous SNV NM_144685 exon2 c.G769A p.A257T 0.00199681 0.0099 0.000077 0.0007 0.0086 0.32 T 1.000 N -1.017 T 0.021 T 0.008 T Pathogenic 19_40900557_G->A 19 40900557 40900557 G A snp 1366.77 0/1 99 90 35 55 0.61 exonic rs139950446 PRX AR,AD synonymous SNV NM_181882 exon7 c.C3702T p.G1234G 0.00898562 0.0357 0.000538 0.0048 0.0302 ID=COSM404267;OCCURENCE=1(lung) Uncertain 19_40900865_C->T 19 40900865 40900865 C T snp 3031.77 1/1 99 97 0 97 1.0 exonic rs268674 PRX AR,AD nonsynonymous SNV NM_181882 exon7 c.G3394A p.G1132R 0.965455 0.9821 0.953791 0.9469 0.9790 0.57 T 0.0 P -1.009 T 0.0 T 0.0 T CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000118080.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 19_41008178_A->G 19 41008178 41008178 A G snp 1194.77 0/1 99 119 67 52 0.44 exonic rs117958811 SPTBN4 AU synonymous SNV NM_020971 exon9 c.A1041G p.Q347Q 0.0221645 0.0843 0.000692 0.0115 0.0949 Uncertain 19_41010045_G->T 19 41010045 41010045 G T snp 236.77 0/1 99 42 30 12 0.29 splicing rs10420988 SPTBN4 AU NM_020971 exon12 c.31511+6G>T 0.125 0.1042 0.003067 0.1913 0.0916 Pathogenic 19_41010047_C->G 19 41010047 41010047 C G snp 360.77 0/1 99 38 24 14 0.37 intronic rs843779 SPTBN4 AU NM_020971 exon12 c.31511+8C>G 0.619409 0.2976 0.604420 0.5344 0.2755 Uncertain 19_41060616_A->G 19 41060616 41060616 A G snp 1085.77 0/1 99 93 49 44 0.47 intronic rs2242131 SPTBN4 AU NM_025213 exon7 c.21997+64A>G 0.125599 0.1081 0.2171 0.1738 Uncertain 19_41062902_-->CC 19 41062902 41062902 - CC indel 672.73 0/1 99 53 16 37 0.7 intronic rs756181831 SPTBN4 AU NM_025213 exon9 c.24373-26insCC 0.0037 0.0016 Uncertain 19_41071701_C->T 19 41071701 41071701 C T snp 198.77 0/1 99 19 9 10 0.53 intronic rs62107869 SPTBN4 AU NM_020971 exon29 c.93123+50C>T 0.126398 0.1151 0.133764 0.1483 0.0956 Uncertain 19_41073532_C->A 19 41073532 41073532 C A snp 729.77 0/1 99 86 53 33 0.38 intronic SPTBN4 AU NM_020971 exon31 c.95040-36C>A Uncertain 19_41075662_G->C 19 41075662 41075662 G C snp 326.77 0/1 99 40 25 15 0.38 intronic rs1165837 SPTBN4 AU NM_020971 exon32 c.97104+30G>C 0.457668 0.1736 0.646932 0.5521 0.1555 Uncertain 19_41076749_C->G 19 41076749 41076749 C G snp 170.77 0/1 99 15 9 6 0.4 intronic rs1675389 SPTBN4 AU NM_020971 exon33 c.98106+115C>G 0.731629 0.5585 Uncertain 19_41078220_G->C 19 41078220 41078220 G C snp 833.77 0/1 99 53 23 30 0.57 intronic rs1165841 SPTBN4 AU NM_020971 exon35 c.99715-23G>C 0.457867 0.1736 0.643934 0.5464 0.1477 Uncertain 19_41082868_T->C 19 41082868 41082868 T C snp 600.77 0/1 99 66 37 29 0.44 exonic rs16974365 SHKBP1 AU synonymous SNV NM_138392 exon1 c.T63C p.I21I 0.148363 0.251 0.134160 0.3347 0.3772 Uncertain 19_41082993_G->C 19 41082993 41082993 G C snp 36.77 0/1 65 35 30 5 0.14 intronic SHKBP1 AU NM_138392 exon1 c.86+102G>C Uncertain 19_41082993_-->CC 19 41082993 41082993 - CC indel 605.73 ./1 99 35 1 34 0.97 intronic rs60047582 SHKBP1 AU NM_138392 exon1 c.86+102insCC Uncertain 19_41082994_C->- 19 41082994 41082994 C - indel 605.73 ./1 99 35 1 34 0.97 intronic rs35684786 SHKBP1 AU NM_138392 exon1 c.86+103delC 0.576278 0.5635 Uncertain 19_41083444_C->T 19 41083444 41083444 C T snp 3240.77 0/1 99 248 128 120 0.48 intronic rs2290682 SHKBP1 AU NM_138392 exon4 c.657-18C>T 0.245208 0.2579 0.276103 0.2820 0.2532 Uncertain 19_41083855_ACACAC->- 19 41083855 41083860 ACACAC - indel 808.73 ./1 99 20 2 18 0.9 intronic rs140884118 SHKBP1 AU NM_138392 exon5 c.1254-204_1254-199delACACAC Uncertain 19_41083855_AC->- 19 41083855 41083856 AC - indel 808.73 ./1 99 20 2 18 0.9 intronic rs398034633 SHKBP1 AU NM_138392 exon5 c.1254-204_1254-203delAC 0.502596 0.4643 Uncertain 19_41084471_-->G 19 41084471 41084471 - G indel 797.73 0/1 99 81 45 36 0.44 intronic rs3217684 SHKBP1 AU NM_138392 exon6 c.1643+23insG 0.247005 0.2609 0.277476 0.2832 0.2557 Uncertain 19_41089773_C->G 19 41089773 41089773 C G snp 212.84 1/1 18 6 0 6 1.0 intronic rs420490 SHKBP1 AU NM_138392 exon12 c.6818+150C>G 0.517372 0.3968 Uncertain 19_41094838_A->G 19 41094838 41094838 A G snp 575.77 1/1 45 16 0 16 1.0 intronic rs393569 SHKBP1 AU NM_138392 exon15 c.12182-149A>G 0.577276 0.4107 Uncertain 19_41095087_GAGGACAGTCCTGTCCAACAGGGAGG->- 19 41095087 41095112 GAGGACAGTCCTGTCCAACAGGGAGG - indel 16210.7 1/1 99 110 0 110 1.0 splicing rs528660073 SHKBP1 AU NM_138392 exon15 c.12279+3_12279+28delGAGGACAGTCCTGTCCAACAGGGAGG 0.314696 0.3155 0.3850 0.3463 ID=COSM3719060;OCCURENCE=1(haematopoietic_and_lymphoid_tissue) Pathogenic 19_41095290_C->G 19 41095290 41095290 C G snp 135.03 1/1 12 5 0 5 1.0 intronic rs420720 SHKBP1 AU NM_138392 exon15 c.12279+206C>G 0.576478 0.4107 Uncertain 19_41096189_A->G 19 41096189 41096189 A G snp 2011.77 1/1 99 78 0 78 1.0 exonic rs396118 SHKBP1 AU synonymous SNV NM_138392 exon16 c.A1629G p.T543T 0.577875 0.4107 0.589712 0.5712 0.4617 Uncertain 19_41097276_C->G 19 41097276 41097276 C G snp 222.84 1/1 18 6 0 6 1.0 UTR3 rs7171 SHKBP1 AU 0.554912 0.4117 Uncertain 19_41104860_G->T 19 41104860 41104860 G T snp 99.28 1/1 9 3 0 3 1.0 intronic rs1864074 LTBP4 AR NM_003573 exon2 c.6031-242G>T 0.536941 0.4038 Uncertain 19_41104977_C->T 19 41104977 41104977 C T snp 695.77 0/1 99 53 20 33 0.62 intronic rs55815263 LTBP4 AR NM_003573 exon2 c.6031-125C>T 0.202276 0.2788 Uncertain 19_41106184_T->C 19 41106184 41106184 T C snp 40.77 0/1 69 6 3 3 0.5 intronic rs79102501 LTBP4 AR NM_003573 exon4 c.7012+101T>C 0.164137 0.122 Uncertain 19_41107205_G->C 19 41107205 41107205 G C snp 93.28 1/1 9 3 0 3 1.0 intronic rs2195386 LTBP4 AR NM_003573 exon4 c.7012+1122G>C 1 1 Uncertain 19_41107208_A->C 19 41107208 41107208 A C snp 170.9 1/1 15 5 0 5 1.0 intronic rs2195385 LTBP4 AR NM_003573 exon4 c.7012+1125A>C 0.997804 1 Uncertain 19_41111069_G->A 19 41111069 41111069 G A snp 4573.77 1/1 99 164 0 164 1.0 exonic rs2303729 LTBP4 AR unknown 0.524361 0.4087 0.519689 0.4994 0.4426 0.22 T 1.000 P -0.943 T 0.0 T 0.0 T CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000151000.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 19_41114065_G->T 19 41114065 41114065 G T snp 1238.77 0/1 99 91 38 53 0.58 intronic rs2303728 LTBP4 AR NM_003573 exon11 c.15054-60G>T 0.236621 0.2837 Uncertain 19_41116397_G->A 19 41116397 41116397 G A snp 2028.77 1/1 99 69 1 68 0.99 intronic rs1318544 LTBP4 AR NM_003573 exon15 c.17366-40G>A 0.513978 0.4087 0.471151 0.4756 0.4292 Uncertain 19_41116866_T->C 19 41116866 41116866 T C snp 431.77 1/1 33 11 0 11 1.0 intronic rs10405930 LTBP4 AR NM_003573 exon16 c.17986-191T>C 0.50639 0.4187 Uncertain 19_41117624_T->C 19 41117624 41117624 T C snp 518.77 1/1 39 14 0 14 1.0 intronic rs2278246 LTBP4 AR NM_003573 exon17 c.18693-140T>C 0.446486 0.4058 Uncertain 19_41117869_A->G 19 41117869 41117869 A G snp 3468.77 1/1 99 119 0 119 1.0 exonic rs1131620 LTBP4 AR unknown 0.495208 0.4067 0.468963 0.4479 0.4014 1 T 0.000 P -0.958 T 0.0 T 0.001 T CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000151001.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 19_41118056_A->G 19 41118056 41118056 A G snp 2217.77 1/1 99 79 1 78 0.99 exonic rs1051303 LTBP4 AR unknown 0.495008 0.4058 0.467403 0.4590 0.4112 1 T 1.000 P -0.946 T 0.003 T 0.001 T CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000155549.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 19_41119273_G->C 19 41119273 41119273 G C snp 7195.77 1/1 99 250 0 250 1.0 intronic rs12611045 LTBP4 AR NM_003573 exon20 c.20238-36G>C 0.357228 0.3998 0.289491 0.3373 0.4018 Uncertain 19_41120083_A->T 19 41120083 41120083 A T snp 1149.77 1/1 90 37 0 37 1.0 intronic rs2369006 LTBP4 AR NM_003573 exon22 c.21149-137A>T 0.3752 0.4018 Uncertain 19_41122671_C->T 19 41122671 41122671 C T snp 1614.77 1/1 99 48 0 48 1.0 intronic rs10403963 LTBP4 AR NM_003573 exon23 c.23723-123C>T 0.518171 0.4048 Uncertain 19_41123093_-->G 19 41123093 41123093 - G indel 6115.73 1/1 99 161 0 161 1.0 exonic rs397728155 LTBP4 AR unknown 1 1 1.0000 1 Uncertain 19_41125159_A->G 19 41125159 41125159 A G snp 1955.77 1/1 99 70 0 70 1.0 intronic rs7259237 LTBP4 AR NM_003573 exon25 c.26180-92A>G 0.436502 0.4048 Uncertain 19_41125177_G->C 19 41125177 41125177 G C snp 2204.77 1/1 99 82 0 82 1.0 intronic rs7259554 LTBP4 AR NM_003573 exon25 c.26180-74G>C 0.435903 0.4038 Uncertain 19_41128162_C->T 19 41128162 41128162 C T snp 128.77 0/1 99 15 9 6 0.4 intronic rs12979249 LTBP4 AR NM_003573 exon26 c.29234-143C>T 0.16274 0.1806 Uncertain 19_41128309_C->T 19 41128309 41128309 C T snp 2136.77 1/1 99 79 0 79 1.0 exonic rs10880 LTBP4 AR unknown 0.417133 0.3442 0.370563 0.5377 0.4720 0.13 T 1.000 P -0.976 T 0.994 D 0.432 D CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000155550.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 19_41128711_A->G 19 41128711 41128711 A G snp 467.77 1/1 36 12 0 12 1.0 intronic rs7257696 LTBP4 AR NM_003573 exon26 c.29501+139A>G 0.546925 0.4226 Uncertain 19_41129079_-->T 19 41129079 41129079 - T indel 70.87 1/1 15 17 0 17 1.0 intronic rs11376199 LTBP4 AR NM_003573 exon27 c.29855+153insT 0.457468 0.3472 Uncertain 19_41129842_C->T 19 41129842 41129842 C T snp 5447.77 1/1 99 206 0 206 1.0 exonic rs7367 LTBP4 AR unknown 0.51877 0.3601 0.511841 0.4389 0.3614 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000151005.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 19_41131675_C->G 19 41131675 41131675 C G snp 1007.77 1/1 75 30 0 30 1.0 intronic rs2278242 LTBP4 AR NM_003573 exon30 c.32690-86C>G 0.514377 0.3591 Uncertain 19_41132022_C->G 19 41132022 41132022 C G snp 272.77 0/1 99 14 4 10 0.71 intronic rs2278243 LTBP4 AR NM_003573 exon30 c.32843+108C>G 0.205072 0.2431 Uncertain 19_41133844_T->C 19 41133844 41133844 T C snp 218.77 0/1 99 14 6 8 0.57 intronic rs41512448 LTBP4 AR NM_003573 exon32 c.34691+82T>C 0.211062 0.2431 Uncertain 19_41133888_G->C 19 41133888 41133888 G C snp 84.28 1/1 9 3 0 3 1.0 intronic rs11671971 LTBP4 AR NM_003573 exon32 c.34691+126G>C 0.510982 0.3581 Uncertain 19_41135157_CA->- 19 41135157 41135158 CA - indel 1382.73 0/1 99 75 41 34 0.45 intronic rs35487927 LTBP4 AR NM_003573 exon33 c.36229-143_36229-142delCA 0.135583 0.1111 Uncertain 19_41135475_G->A 19 41135475 41135475 G A snp 851.77 0/1 99 60 25 35 0.58 UTR3 rs1051481 LTBP4 AR 0.186502 0.2431 0.139296 0.5640 0.6038 Uncertain 19_41173880_C->T 19 41173880 41173880 C T snp 1817.77 1/1 99 61 0 61 1.0 exonic rs2604901 NUMBL AU synonymous SNV NM_004756 exon10 c.G1323A p.Q441Q 0.661941 0.5298 0.705593 0.6741 0.6005 Uncertain 19_41173893_TGCTGT->- 19 41173893 41173898 TGCTGT - indel 4618.73 1/1 99 65 0 65 1.0 exonic rs141662737 NUMBL AU nonframeshift deletion NM_004756 exon10 c.1305_1310del p.435_437del 0.570288 0.4653 0.6447 0.5820 ID=COSM996778;OCCURENCE=1(endometrium),1(ovary) Uncertain 19_41192610_-->TGAG 19 41192610 41192610 - TGAG indel 881.73 1/1 39 13 0 13 1.0 intronic rs112258640 NUMBL AU NM_004756 exon9 c.19443-205insTGAG Uncertain 19_41192617_T->C 19 41192617 41192617 T C snp 308.77 0/1 99 19 7 12 0.63 intronic rs59449188 NUMBL AU NM_004756 exon9 c.19443-198T>C 0.400759 0.3016 Uncertain 19_41198482_T->C 19 41198482 41198482 T C snp 44.77 0/1 31 3 1 2 0.67 intronic rs2604880 ADCK4 AU NM_001142555 exon1 c.339+204T>C 0.598043 0.4931 Uncertain 19_41206208_A->G 19 41206208 41206208 A G snp 1347.77 0/1 99 130 73 57 0.44 intronic rs2246095 ADCK4 AU NM_001142555 exon5 c.8275-6A>G 0.53754 0.5188 0.579117 0.5260 0.5203 Uncertain 19_41209477_C->T 19 41209477 41209477 C T snp 658.77 0/1 99 67 35 32 0.48 exonic rs11538385 ADCK4 AU synonymous SNV NM_024876 exon9 c.G768A p.A256A 0.229433 0.2361 0.231970 0.2758 0.2365 Uncertain 19_41211056_T->C 19 41211056 41211056 T C snp 554.77 0/1 99 50 26 24 0.48 exonic rs3865452 ADCK4 AU nonsynonymous SNV NM_024876 exon7 c.A521G p.H174R 0.477436 0.4782 0.452483 0.5085 0.4731 0.55 T 0.000 P -0.918 T 0.0 T 0.0 T Pathogenic 19_41216172_T->C 19 41216172 41216172 T C snp 345.78 1/1 27 10 0 10 1.0 intronic rs7258157 ADCK4 AU NM_001142555 exon10 c.18102+131T>C 0.991014 0.9554 Uncertain 19_41224204_G->C 19 41224204 41224204 G C snp 259.77 0/1 99 21 11 10 0.48 intronic rs28493229 ITPKC AU NM_025194 exon1 c.1155+9G>C 0.0858626 0.0655 0.088480 0.1244 0.0711 ID=CS080711;DIS=Kawasaki disease, association with;TAG=DP;PUB=18084290 DP Uncertain 19_41235393_A->G 19 41235393 41235393 A G snp 77.77 0/1 99 7 4 3 0.43 intronic rs1965715 ITPKC AU NM_025194 exon3 c.12280+73A>G 0.749002 0.7649 Uncertain 19_41248009_C->T 19 41248009 41248009 C T snp 718.77 0/1 99 73 42 31 0.42 UTR3 rs3745213 C19orf54 AU 0.0970447 0.0694 0.1474 0.0882 Uncertain 19_41251180_T->G 19 41251180 41251180 T G snp 994.77 0/1 99 49 16 33 0.67 intronic rs2369302 C19orf54 AU NM_198476 exon5 c.2766+77T>G 0.589257 0.4067 Uncertain 19_41255367_T->C 19 41255367 41255367 T C snp 563.77 0/1 99 55 31 24 0.44 intronic rs559611581 C19orf54 AU NM_198476 exon6 c.7048-18T>C 0.000998403 0.005 0.0005 0.0082 Uncertain 19_41255500_C->G 19 41255500 41255500 C G snp 772.77 0/1 99 77 46 31 0.4 exonic rs2254343 C19orf54 AU nonsynonymous SNV NM_198476 exon1 c.G209C p.R70P 0.756789 0.6349 0.7332 0.6576 1 T 1.000 P -0.972 T 0.0 T 0.0 T Pathogenic 19_41257176_G->C 19 41257176 41257176 G C snp 1202.77 1/1 87 39 0 39 1.0 UTR5 rs1457141 SNRPA AU 0.876797 0.9544 Uncertain 19_41265201_C->T 19 41265201 41265201 C T snp 350.77 0/1 99 18 6 12 0.67 intronic rs736625 SNRPA AU NM_004596 exon3 c.8022-134C>T 0.554313 0.4851 Uncertain 19_41283365_C->G 19 41283365 41283365 C G snp 1648.77 1/1 99 61 0 61 1.0 ncRNA_intronic rs2233159 MIA-RAB4B AU 0.858427 0.7927 0.883977 0.9067 0.7920 Uncertain 19_41286163_C->G 19 41286163 41286163 C G snp 1864.77 0/1 99 123 56 67 0.54 ncRNA_intronic rs2287691 MIA-RAB4B AU 0.192692 0.0764 Uncertain 19_41289756_G->A 19 41289756 41289756 G A snp 911.77 0/1 99 62 28 34 0.55 ncRNA_intronic rs2287692 MIA-RAB4B AU 0.0992412 0.0764 0.100723 0.1370 0.0748 Uncertain 19_41327313_C->A 19 41327313 41327313 C A snp 123.77 0/1 99 244 159 85 0.35 intergenic rs2604863 RAB4B-EGLN2 AU 0.515375 0.5347 Uncertain 19_41349640_G->C 19 41349640 41349640 G C snp 1315.77 1/1 96 39 0 39 1.0 UTR3 rs7248240 CYP2A6 AR,AD,AU 0.551717 0.5734 Uncertain 19_41349774_A->G 19 41349774 41349774 A G snp 1179.77 0/1 99 250 187 63 0.25 exonic rs5031016 CYP2A6 AR,AD,AU nonsynonymous SNV NM_000762 exon9 c.T1412C p.I471T 0.000615 0.0111 0.1291 0 D 1 N -1.084 T 0.991 D 0.996 D ID=CM024239;DIS=Impaired nicotine metabolism;TAG=FP;PUB=11237731 FP Pathogenic 19_41349943_G->C 19 41349943 41349943 G C snp 33.77 0/1 62 21 16 5 0.24 intronic rs373949046 CYP2A6 AR,AD,AU NM_000762 exon1 c.182+61G>C 0.113419 0.12 Uncertain 19_41350664_A->T 19 41350664 41350664 A T snp 2133.77 1/1 99 78 0 78 1.0 exonic rs1809810 CYP2A6 AR,AD,AU nonsynonymous SNV NM_000762 exon8 c.T1175A p.F392Y 0.986422 0.9891 0.9876 0.9876 0.55 T 0.011 P -0.990 T 0.012 T 0.084 T ID=CM057913;DIS=Poor metaboliser;TAG=FP;PUB=15900015 FP Pathogenic 19_41354606_G->T 19 41354606 41354606 G T snp 42.77 0/1 71 140 129 11 0.08 exonic rs4986892 CYP2A6 AR,AD,AU synonymous SNV NM_000762 exon3 c.C406A p.R136R 0.3382 0.3161 Uncertain 19_41354661_T->C 19 41354661 41354661 T C snp 168.77 0/1 99 67 56 11 0.16 exonic rs79584535 CYP2A6 AR,AD,AU synonymous SNV NM_000762 exon3 c.A351G p.V117V 0.2199 0.2051 Uncertain 19_41354712_A->G 19 41354712 41354712 A G snp 715.77 1/1 54 23 0 23 1.0 intronic rs8192725 CYP2A6 AR,AD,AU NM_000762 exon7 c.4968+44A>G 0.769968 0.7867 0.773561 0.7469 0.7670 Uncertain 19_41355849_A->G 19 41355849 41355849 A G snp 243.77 0/1 99 109 85 24 0.22 exonic rs2302990 CYP2A6 AR,AD,AU synonymous SNV NM_000762 exon2 c.T217C p.L73L 0.0032 0.0049 Uncertain 19_41355896_T->C 19 41355896 41355896 T C snp 66.77 0/1 95 85 73 12 0.14 intronic rs376970015 CYP2A6 AR,AD,AU NM_000762 exon8 c.6185+11T>C 0.0093 0.0024 Uncertain 19_41356281_T->C 19 41356281 41356281 T C snp 6152.77 1/1 99 222 0 222 1.0 exonic rs1137115 CYP2A6 AR,AD,AU synonymous SNV NM_000762 exon1 c.A51G p.V17V 0.760583 0.7867 0.758191 0.7537 0.7788 ID=CS1314366;DIS=Poor metaboliser;TAG=FP;PUB=23292114 FP Uncertain 19_41356310_G->A 19 41356310 41356310 G A snp 2367.77 0/1 99 199 101 98 0.49 exonic rs8192720 CYP2A6 AR,AD,AU synonymous SNV NM_000762 exon1 c.C22T p.L8L 0.0451278 0.1766 0.012844 0.0218 0.1940 Uncertain 19_41356379_A->C 19 41356379 41356379 A C snp 1062.77 0/1 99 74 36 38 0.51 upstream rs28399433 CYP2A6 AR,AD,AU 0.128195 0.2391 0.067990 0.0990 0.2302 ID=CR015160;DIS=Reduced transcriptional activity;TAG=FP;PUB=11394901 FP Uncertain 19_41381647_A->C 19 41381647 41381647 A C snp 1370.77 0/1 99 204 128 76 0.37 exonic rs12460590 CYP2A7 AU nonsynonymous SNV NM_030589 exon8 c.T1283G p.V428G 0.714257 0.6577 0.6679 0.6420 1 T 0.056 P -0.960 T 0.0 T 0.0 T Pathogenic 19_41381671_A->G 19 41381671 41381671 A G snp 412.77 0/1 99 207 178 29 0.14 exonic rs200525410 CYP2A7 AU nonsynonymous SNV NM_030589 exon8 c.T1259C p.I420T 0.0189696 0.0883 0.0098 0.1093 0 D 1 N -1.149 T 0.997 D 0.996 D Pathogenic 19_41382607_A->C 19 41382607 41382607 A C snp 285.77 0/1 99 37 25 12 0.32 intronic rs2316206 CYP2A7 AU NM_030589 exon2 c.976+34A>C 0.467053 0.4405 0.7111 0.6448 Uncertain 19_41382608_G->A 19 41382608 41382608 G A snp 314.77 0/1 99 37 26 11 0.3 intronic rs2316207 CYP2A7 AU NM_030589 exon2 c.976+35G>A 0.467053 0.4405 0.7102 0.6429 Uncertain 19_41382612_C->T 19 41382612 41382612 C T snp 309.77 0/1 99 35 24 11 0.31 intronic rs2316208 CYP2A7 AU NM_030589 exon2 c.976+39C>T 0.665735 0.6339 0.7103 0.6439 Uncertain 19_41382613_G->A 19 41382613 41382613 G A snp 330.77 0/1 99 34 23 11 0.32 intronic rs2316209 CYP2A7 AU NM_030589 exon2 c.976+40G>A 0.648163 0.5982 0.7108 0.6430 Uncertain 19_41382645_G->A 19 41382645 41382645 G A snp 201.77 0/1 99 16 9 7 0.44 intronic rs3865455 CYP2A7 AU NM_030589 exon2 c.976+72G>A 0.728435 0.6528 Uncertain 19_41382653_A->G 19 41382653 41382653 A G snp 158.77 0/1 99 15 9 6 0.4 intronic rs2388869 CYP2A7 AU NM_030589 exon2 c.976+80A>G 0.728435 0.6528 Uncertain 19_41382655_T->G 19 41382655 41382655 T G snp 117.77 0/1 99 14 9 5 0.36 intronic rs2316210 CYP2A7 AU NM_030589 exon2 c.976+82T>G 0.728235 0.6528 Uncertain 19_41382665_G->A 19 41382665 41382665 G A snp 123.77 0/1 99 14 9 5 0.36 intronic rs3852869 CYP2A7 AU NM_030589 exon2 c.976+92G>A 0.729233 0.6528 Uncertain 19_41383215_G->C 19 41383215 41383215 G C snp 1624.77 0/1 99 121 55 66 0.55 exonic rs2302986 CYP2A7 AU synonymous SNV NM_030589 exon6 c.C888G p.T296T 0.11242 0.1796 0.089986 0.1295 0.1826 Uncertain 19_41383344_T->C 19 41383344 41383344 T C snp 955.77 0/1 99 73 32 41 0.56 intronic rs2302988 CYP2A7 AU NM_030589 exon3 c.1685+62T>C 0.761382 0.6518 Uncertain 19_41383378_C->A 19 41383378 41383378 C A snp 599.77 0/1 99 44 23 21 0.48 intronic rs16958956 CYP2A7 AU NM_030589 exon3 c.1685+96C>A 0.794329 0.6508 Uncertain 19_41383799_G->A 19 41383799 41383799 G A snp 1288.77 0/1 99 121 62 59 0.49 exonic rs3869579 CYP2A7 AU nonsynonymous SNV NM_030589 exon5 c.C778T p.R260C 0.519169 0.4405 0.486850 0.5226 0.4544 0 D 0.932 P -0.887 T 1.0 D 1.0 D Pathogenic 19_41384637_C->T 19 41384637 41384637 C T snp 1388.77 0/1 99 106 51 55 0.52 intronic rs4079367 CYP2A7 AU NM_030589 exon5 c.3067-27C>T 0.519169 0.4405 0.485774 0.5215 0.4515 Uncertain 19_41384675_T->C 19 41384675 41384675 T C snp 1769.77 0/1 99 133 62 71 0.53 exonic rs4079366 CYP2A7 AU nonsynonymous SNV NM_030589 exon4 c.A668G p.H223R 0.794329 0.6508 0.794909 0.7599 0.6521 0.49 T 0.0 P -1.018 T 0.0 T 0.001 T Pathogenic 19_41385834_C->G 19 41385834 41385834 C G snp 37.77 0/1 66 6 4 2 0.33 intronic rs12973598 CYP2A7 AU NM_030589 exon6 c.4391-154C>G 0.516973 0.4276 Uncertain 19_41386136_A->C 19 41386136 41386136 A C snp 452.77 0/1 99 35 17 18 0.51 exonic rs4142867 CYP2A7 AU nonsynonymous SNV NM_030589 exon3 c.T354G p.D118E 0.519169 0.4395 0.486852 0.5229 0.4546 0.04 T 0.000 P -0.966 T 0.259 T 0.218 T Pathogenic 19_41386209_A->G 19 41386209 41386209 A G snp 84.77 0/1 33 5 2 3 0.6 intronic rs3815704 CYP2A7 AU NM_030589 exon6 c.4552+60A>G 0.519768 0.4415 Uncertain 19_41386420_A->C 19 41386420 41386420 A C snp 2661.77 0/1 99 246 128 118 0.48 exonic rs56081734 CYP2A7 AU nonsynonymous SNV NM_030589 exon2 c.T304G p.S102A 0.51857 0.4405 0.472936 0.5206 0.4545 1 T 0.0 P -0.934 T 0.0 T 0.001 T Pathogenic 19_41386486_C->A 19 41386486 41386486 C A snp 1608.77 0/1 99 154 84 70 0.45 exonic rs3815708 CYP2A7 AU nonsynonymous SNV NM_030589 exon2 c.G238T p.A80S 0.517772 0.4405 0.0724 0.0614 1 T 1.000 N -0.999 T 0.0 T 0.003 T Pathogenic 19_41386487_A->G 19 41386487 41386487 A G snp 1616.77 0/1 99 152 82 70 0.46 exonic rs3815709 CYP2A7 AU synonymous SNV NM_030589 exon2 c.T237C p.F79F 0.517772 0.4405 0.0666 0.0561 Uncertain 19_41386494_A->C 19 41386494 41386494 A C snp 1622.77 0/1 99 143 75 68 0.48 exonic rs3815710 CYP2A7 AU nonsynonymous SNV NM_030589 exon2 c.T230G p.L77R 0.514976 0.4395 0.0657 0.0556 1 T 0.000 P -0.975 T 0.0 T 0.001 T Pathogenic 19_41386527_G->A 19 41386527 41386527 G A snp 652.77 0/1 99 74 46 28 0.38 exonic rs58798281 CYP2A7 AU nonsynonymous SNV NM_030589 exon2 c.C197T p.A66V 0.517971 0.4405 0.2610 0.2194 0.76 T 0.0 P -0.927 T 0.013 T 0.02 T Pathogenic 19_41386544_C->G 19 41386544 41386544 C G snp 458.77 0/1 99 46 28 18 0.39 intronic rs71337574 CYP2A7 AU NM_030589 exon7 c.4936+11C>G 0.518171 0.4405 0.3636 0.3235 Uncertain 19_41386547_G->C 19 41386547 41386547 G C snp 459.77 0/1 99 43 25 18 0.42 intronic rs74219554 CYP2A7 AU NM_030589 exon7 c.4936+14G>C 0.518371 0.4405 0.3561 0.3163 Uncertain 19_41386584_G->T 19 41386584 41386584 G T snp 263.77 0/1 99 14 4 10 0.71 intronic rs3815714 CYP2A7 AU NM_030589 exon7 c.4936+51G>T 0.515575 0.4286 0.405752 0.4131 0.3550 Uncertain 19_41387620_A->G 19 41387620 41387620 A G snp 254.77 0/1 99 62 48 14 0.23 exonic rs10425150 CYP2A7 AU synonymous SNV NM_000764 exon2 c.T217C p.L73L 0.517971 0.4405 0.4777 0.4099 Uncertain 19_41387647_A->G 19 41387647 41387647 A G snp 146.77 0/1 99 61 51 10 0.16 exonic rs10425169 CYP2A7 AU nonsynonymous SNV NM_000764 exon2 c.T190C p.C64R 0.518371 0.4435 0.3128 0.2801 0.59 T 0.0 P -0.937 T 0.0 T 0.0 T Pathogenic 19_41387656_A->T 19 41387656 41387656 A T snp 133.77 0/1 99 62 52 10 0.16 exonic rs10425176 CYP2A7 AU nonsynonymous SNV NM_000764 exon2 c.T181A p.F61I 0.518171 0.4435 0.2999 0.2688 0.18 T 1.000 P -0.942 T 0.0 T 0.0 T Pathogenic 19_41387669_A->G 19 41387669 41387669 A G snp 156.77 0/1 99 58 47 11 0.19 intronic rs10425185 CYP2A7 AU NM_000764 exon8 c.6059+13A>G 0.803914 0.6706 0.7300 0.6169 Uncertain 19_41397370_A->C 19 41397370 41397370 A C snp 464.77 0/1 99 43 24 19 0.44 ncRNA_exonic rs3852870 CYP2G1P AU 0.578075 0.4415 Uncertain 19_41397806_C->A 19 41397806 41397806 C A snp 229.77 0/1 57 11 2 9 0.82 ncRNA_exonic rs8106551 CYP2G1P AU 0.769768 0.6687 Uncertain 19_41397873_C->A 19 41397873 41397873 C A snp 55.77 0/1 84 61 54 7 0.11 ncRNA_exonic rs768281033 CYP2G1P AU 0.0583 0.0833 Uncertain 19_41397874_T->C 19 41397874 41397874 T C snp 55.77 0/1 84 62 54 8 0.13 ncRNA_exonic rs775995839 CYP2G1P AU 0.0603 0.0833 Uncertain 19_41400906_-->AGAG 19 41400906 41400906 - AGAG indel 2239.73 0/1 99 58 21 37 0.64 ncRNA_intronic rs10626476 CYP2G1P AU 0.654153 0.4762 Uncertain 19_41400914_AAAC->- 19 41400914 41400917 AAAC - indel 1142.73 0/1 99 52 18 34 0.65 ncRNA_intronic rs140473451 CYP2G1P AU 0.566294 0.4296 Uncertain 19_41401497_T->A 19 41401497 41401497 T A snp 1623.77 0/1 99 118 48 70 0.59 ncRNA_intronic CYP2G1P AU Uncertain 19_41401950_G->C 19 41401950 41401950 G C snp 648.77 0/1 99 56 26 30 0.54 ncRNA_intronic rs4803398 CYP2G1P AU 0.679113 0.4752 Uncertain 19_41402162_T->C 19 41402162 41402162 T C snp 208.77 0/1 57 12 3 9 0.75 ncRNA_intronic rs3956342 CYP2G1P AU 0.797923 0.6677 Uncertain 19_41402579_A->G 19 41402579 41402579 A G snp 1902.77 0/1 99 197 115 82 0.42 ncRNA_intronic rs6508953 CYP2G1P AU 0.657149 0.4752 Uncertain 19_41403325_T->C 19 41403325 41403325 T C snp 2314.77 0/1 99 178 83 95 0.53 ncRNA_intronic rs7252852 CYP2G1P AU 0.560304 0.4405 Uncertain 19_41403982_-->T 19 41403982 41403982 - T indel 1266.73 0/1 99 73 32 41 0.56 ncRNA_intronic rs11083583 CYP2G1P AU 0.65655 0.4752 Uncertain 19_41404076_G->C 19 41404076 41404076 G C snp 1664.77 0/1 99 168 91 77 0.46 ncRNA_exonic rs150840220 CYP2G1P AU 0.00399361 0.0188 0.0006 0.03 0 D -0.301 T Uncertain 19_41404196_A->G 19 41404196 41404196 A G snp 901.77 0/1 99 60 29 31 0.52 ncRNA_exonic rs10419393 CYP2G1P AU 0.560104 0.4405 0.5366 0.3939 0.82 T -0.978 T Uncertain 19_41405962_T->G 19 41405962 41405962 T G snp 2676.77 0/1 99 250 130 120 0.48 ncRNA_exonic rs4803400 CYP2G1P AU 0.560304 0.4405 0.5369 0.4124 0.02 T -0.980 T Uncertain 19_41415112_T->A 19 41415112 41415112 T A snp 710.77 0/1 99 50 19 31 0.62 intergenic rs3844442 CYP2G1P AU 0.623802 0.5 0.6050 0.4932 Uncertain 19_41416750_T->C 19 41416750 41416750 T C snp 39.77 0/1 68 13 9 4 0.31 intergenic rs10419589 CYP2G1P AU 0.628994 0.5 0.6106 0.5191 0.02 T -0.938 T Uncertain 19_41447928_G->A 19 41447928 41447928 G A snp 2164.77 0/1 99 222 127 95 0.43 ncRNA_intronic rs3865460 CYP2B7P AU 0.842053 0.7966 0.8032 0.8099 Uncertain 19_41510127_A->T 19 41510127 41510127 A T snp 502.77 0/1 99 62 36 26 0.42 intronic rs2279342 CYP2B6 AU NM_000767 exon2 c.12858+59A>T 0.128195 0.1845 Uncertain 19_41512792_C->T 19 41512792 41512792 C T snp 152.77 0/1 99 10 5 5 0.5 intronic rs4803419 CYP2B6 AU NM_000767 exon4 c.15599-17C>T 0.289137 0.4355 0.239428 0.3353 0.4621 ID=CS033987;DIS=CYP2B6 expression;TAG=FP;PUB=14551287 FP Uncertain 19_41515702_T->C 19 41515702 41515702 T C snp 337.77 0/1 99 20 10 10 0.5 intronic rs2279345 CYP2B6 AU NM_000767 exon6 c.18688-196T>C 0.734824 0.6944 Uncertain 19_41557810_TG->- 19 41557810 41557811 TG - indel 183.73 0/1 76 7 2 5 0.71 intergenic rs397703549 CYP2B6 AU 0.298722 0.3383 Uncertain 19_41558800_T->C 19 41558800 41558800 T C snp 1026.77 0/1 99 102 55 47 0.46 intergenic rs11083604 CYP2B6 AU 0.339058 0.3393 Uncertain 19_41558878_G->A 19 41558878 41558878 G A snp 1167.77 0/1 99 127 76 51 0.4 intergenic rs56156262 CYP2B6 AU 0.211062 0.3294 Uncertain 19_41564417_C->A 19 41564417 41564417 C A snp 444.77 0/1 99 26 12 14 0.54 intergenic rs12978001 CYP2B6 AU 0.254193 0.2282 Uncertain 19_41622107_-->C 19 41622107 41622107 - C indel 2627.73 0/1 99 146 71 75 0.51 exonic rs3833221 CYP2F1 AU frameshift insertion NM_000774 exon2 c.15dupC p.S5fs 0.271965 0.251 0.255671 0.2148 0.2497 Pathogenic 19_41622189_G->A 19 41622189 41622189 G A snp 2829.77 0/1 99 250 130 120 0.48 exonic rs305968 CYP2F1 AU synonymous SNV NM_000774 exon2 c.G96A p.P32P 0.414137 0.2798 0.386514 0.3561 0.2821 Uncertain 19_41622615_C->T 19 41622615 41622615 C T snp 567.77 0/1 99 32 10 22 0.69 intronic rs12975986 CYP2F1 AU NM_000774 exon3 c.429+93C>T 0.144768 0.1994 Uncertain 19_41626439_T->- 19 41626439 41626439 T - indel 160.73 0/1 99 20 9 11 0.55 intronic rs34650210 CYP2F1 AU NM_000774 exon4 c.4308+38delT 0.352236 0.3403 0.3566 0.3170 Uncertain 19_41627868_G->A 19 41627868 41627868 G A snp 496.77 0/1 99 82 50 32 0.39 exonic rs305974 CYP2F1 AU nonsynonymous SNV NM_000774 exon6 c.G652A p.D218N 0.396765 0.2877 0.365251 0.3453 0.2885 1 T 0.000 P -0.926 T 0.122 T 0.016 T Pathogenic 19_41628014_G->C 19 41628014 41628014 G C snp 99.77 0/1 99 75 62 13 0.17 exonic rs75405062 CYP2F1 AU nonsynonymous SNV NM_000774 exon6 c.G798C p.Q266H 0.022296 0.0087 0.0099 0 D 0.000 P -0.946 T 0.994 D 0.86 D Pathogenic 19_41628677_T->G 19 41628677 41628677 T G snp 2622.77 0/1 99 220 103 117 0.53 intronic rs305975 CYP2F1 AU NM_000774 exon7 c.6633-49T>G 0.245208 0.2272 0.229894 0.2359 0.2118 Uncertain 19_41631415_C->A 19 41631415 41631415 C A snp 448.77 0/1 99 134 89 45 0.34 exonic rs137939255 CYP2F1 AU synonymous SNV NM_000774 exon9 c.C1170A p.T390T 0.264377 0.1915 0.3391 0.2718 1.000 P -0.945 T Likely benign 19_41633946_A->C 19 41633946 41633946 A C snp 419.77 0/1 99 37 19 18 0.49 exonic rs79238130 CYP2F1 AU nonsynonymous SNV NM_000774 exon10 c.A1435C p.N479H 0.00599042 0.0298 0.0028 0.0369 0.12 T 1.000 N -1.027 T 0.203 T 0.105 T Pathogenic 19_41699145_GAG->- 19 41699145 41699147 GAG - indel 398.73 0/1 99 13 5 8 0.62 UTR5 rs138605512 CYP2S1 AU 0.023762 0.1121 0.002105 0.0170 0.1612 Uncertain 19_41700343_C->T 19 41700343 41700343 C T snp 1444.77 0/1 99 133 70 63 0.47 intronic rs338600 CYP2S1 AU NM_030622 exon2 c.1279-105C>T 0.736621 0.7639 Uncertain 19_41700493_G->C 19 41700493 41700493 G C snp 1860.77 0/1 99 181 98 83 0.46 exonic rs338599 CYP2S1 AU synonymous SNV NM_030622 exon2 c.G222C p.P74P 0.877796 0.7897 0.934569 0.9261 0.7785 Uncertain 19_41703660_T->C 19 41703660 41703660 T C snp 825.77 1/1 60 29 0 29 1.0 intronic rs338594 CYP2S1 AU NM_030622 exon3 c.4514-23T>C 0.584864 0.5744 0.600031 0.5466 0.5615 Uncertain 19_41704304_T->C 19 41704304 41704304 T C snp 1069.77 1/1 78 34 0 34 1.0 intronic rs338593 CYP2S1 AU NM_030622 exon4 c.5197-62T>C 0.586062 0.5744 Uncertain 19_41704832_A->G 19 41704832 41704832 A G snp 2057.77 1/1 99 71 0 71 1.0 intronic rs338592 CYP2S1 AU NM_030622 exon5 c.5624+39A>G 0.999601 0.998 1.0000 0.9998 Uncertain 19_41707094_A->G 19 41707094 41707094 A G snp 838.77 1/1 63 26 0 26 1.0 intronic rs1628289 CYP2S1 AU NM_030622 exon6 c.7966-41A>G 0.610623 0.5635 0.611641 0.5255 0.5472 Uncertain 19_41709222_T->A 19 41709222 41709222 T A snp 106.77 0/1 99 17 12 5 0.29 intronic rs57934551 CYP2S1 AU NM_030622 exon7 c.10185-132T>A 0.233027 0.3433 Uncertain 19_41711755_G->T 19 41711755 41711755 G T snp 629.77 1/1 48 16 0 16 1.0 intronic rs338586 CYP2S1 AU NM_030622 exon8 c.12693-107G>T 0.529952 0.5476 Uncertain 19_41711815_G->A 19 41711815 41711815 G A snp 1939.77 1/1 99 61 0 61 1.0 intronic rs338585 CYP2S1 AU NM_030622 exon8 c.12693-47G>A 0.548922 0.5476 0.540058 0.4769 0.5318 Uncertain 19_41712113_C->G 19 41712113 41712113 C G snp 207.77 0/1 99 19 11 8 0.42 intronic rs338584 CYP2S1 AU NM_030622 exon9 c.13015-71C>G 0.282149 0.1954 Uncertain 19_41712160_CT->- 19 41712160 41712161 CT - indel 745.73 0/1 99 36 14 22 0.61 intronic rs55800603 CYP2S1 AU NM_030622 exon9 c.13015-24_13015-23delCT 0.0593051 0.0694 0.4297 0.4859 Uncertain 19_41712424_A->G 19 41712424 41712424 A G snp 2295.77 0/1 99 186 94 92 0.49 UTR3 rs338583 CYP2S1 AU 0.321486 0.1964 0.368445 0.2839 0.1814 Uncertain 19_41725271_A->G 19 41725271 41725271 A G snp 1150.77 1/1 81 46 0 46 1.0 UTR5 rs10411012 AXL AU 0.490216 0.3859 0.525372 0.5770 0.5011 Uncertain 19_41727197_C->T 19 41727197 41727197 C T snp 1038.77 0/1 99 69 35 34 0.49 intronic rs2271546 AXL AU NM_001699 exon3 c.1854+46C>T 0.135583 0.0397 0.165462 0.1311 0.0361 Uncertain 19_41727232_GGTCAA->- 19 41727232 41727237 GGTCAA - indel 859.73 0/1 99 33 9 24 0.73 intronic rs3830504 AXL AU NM_001699 exon3 c.1854+81_1854+86delGGTCAA 0.135184 0.0407 Uncertain 19_41743861_A->G 19 41743861 41743861 A G snp 7338.77 1/1 99 250 0 250 1.0 exonic rs7249222 AXL AU nonsynonymous SNV NM_021913 exon7 c.A796G p.N266D 1 1 1 1 0.98 T 0.0 P -0.965 T 0.0 T 0.0 T Pathogenic 19_41748753_T->C 19 41748753 41748753 T C snp 7305.77 1/1 99 250 0 250 1.0 intronic rs2304234 AXL AU NM_001699 exon10 c.23490-34T>C 0.463259 0.3591 0.475088 0.4109 0.3617 Uncertain 19_41759632_CCC->- 19 41759632 41759634 CCC - indel 2742.73 1/1 99 62 0 62 1.0 intronic rs68001077 AXL AU NM_001699 exon16 c.34316+19_34316+21delCCC 0.403754 0.5109 0.4859 0.5427 Uncertain 19_41759637_C->T 19 41759637 41759637 C T snp 1469.77 0/1 30 58 6 52 0.9 intronic rs116056574 AXL AU NM_001699 exon16 c.34316+24C>T 0.403754 0.5109 0.3330 0.4125 Uncertain 19_41762525_A->G 19 41762525 41762525 A G snp 3161.77 1/1 99 103 0 103 1.0 intronic rs2304232 AXL AU NM_001699 exon17 c.37219+9A>G 0.150958 0.2778 0.140012 0.1418 0.2914 Uncertain 19_41765407_A->C 19 41765407 41765407 A C snp 3851.77 1/1 99 144 0 144 1.0 intronic rs4591267 AXL AU NM_001699 exon19 c.40160-50A>C 0.152157 0.2778 0.134308 0.1429 0.2882 Uncertain 19_41774064_T->C 19 41774064 41774064 T C snp 3273.77 1/1 99 112 0 112 1.0 intronic rs2304230 HNRNPUL1 AU NM_007040 exon2 c.3719-63T>C 0.243011 0.3472 Uncertain 19_41782302_T->C 19 41782302 41782302 T C snp 219.77 0/1 99 14 7 7 0.5 intronic rs77028936 HNRNPUL1 AU NM_144732 exon5 c.8071+99T>C 0.0161741 0.0784 Uncertain 19_41798111_A->G 19 41798111 41798111 A G snp 3617.77 1/1 99 128 0 128 1.0 intronic rs3752705 HNRNPUL1 AU NM_144732 exon8 c.24017-38A>G 0.240815 0.3482 0.199216 0.1820 0.3590 Uncertain 19_41807700_G->A 19 41807700 41807700 G A snp 513.77 1/1 39 16 0 16 1.0 intronic rs7248164 HNRNPUL1 AU NM_144732 exon11 c.33477+91G>A 0.264177 0.3482 Uncertain 19_41808432_A->T 19 41808432 41808432 A T snp 1722.77 1/1 99 63 0 63 1.0 intronic rs11881940 HNRNPUL1 AU NM_144732 exon12 c.34437-137A>T 0.138179 0.2748 0.2586 0.4313 Uncertain 19_41809995_A->G 19 41809995 41809995 A G snp 5809.77 1/1 99 205 0 205 1.0 exonic rs1056854 HNRNPUL1 AU synonymous SNV NM_007040 exon13 c.A2091G p.P697P 0.1248 0.2034 0.132441 0.1393 0.2370 Uncertain 19_41811730_T->C 19 41811730 41811730 T C snp 585.77 1/1 45 17 0 17 1.0 exonic rs12745 HNRNPUL1 AU synonymous SNV NM_007040 exon14 c.T2412C p.T804T 0.993011 1 0.990924 0.9905 0.9998 0.36 T 1.000 P -1.086 T Likely benign 19_41825776_A->G 19 41825776 41825776 A G snp 1209.77 1/1 90 40 0 40 1.0 intronic rs3826714 CCDC97 AU NM_052848 exon3 c.9542+19A>G 0.248602 0.3532 0.204217 0.2596 0.4452 Uncertain 19_41858921_G->A 19 41858921 41858921 G A snp 1620.77 1/1 99 63 0 63 1.0 exonic rs1800470 TGFB1 AR,AD nonsynonymous SNV NM_000660 exon1 c.C29T p.P10L 0.545327 0.4454 0.5623 0.4810 0.64 T 1.000 P -0.945 T CLINSIG=other|other|non-pathogenic;CLNDBN=Cystic_fibrosis|Breast_cancer\x2c_invasive\x2c_susceptibility_to|Diaphyseal_dysplasia;CLNREVSTAT=no_assertion_criteria_provided|no_assertion_criteria_provided|no_assertion_provided;CLNACC=RCV000013360.25|RCV000013361.2|RCV000032141.1;CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT|.|GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT;CLNDSDBID=NBK1250:C0010674:219700:ORPHA586:190905008|.|NBK1156:C0011989:131300:ORPHA1328:34643004 ID=CM002115;DIS=Osteoporosis, association with;TAG=DFP;PUB=9783545 DFP Pathogenic 19_41863777_A->C 19 41863777 41863777 A C snp 1050.77 0/1 99 66 26 40 0.61 intronic rs11668109 B9D2 AR NM_030578 exon2 c.3197-24A>C 0.52476 0.1528 0.686914 0.6073 0.1498 Uncertain 19_41869392_T->C 19 41869392 41869392 T C snp 2245.77 1/1 99 84 0 84 1.0 exonic rs2241714 B9D2 AR nonsynonymous SNV NM_030578 exon2 c.A33G p.I11M 0.649561 0.4464 0.724512 0.6550 0.4569 0.11 T 0.122 P -1.030 T 0.001 T 0.005 T Pathogenic 19_41869468_G->C 19 41869468 41869468 G C snp 1378.77 1/1 99 52 0 52 1.0 intronic rs2241713 B9D2 AR NM_030578 exon3 c.8824+40G>C 0.541733 0.4425 0.589497 0.5725 0.4556 Uncertain 19_41869487_-->A 19 41869487 41869487 - A indel 1631.73 1/1 99 37 0 37 1.0 intronic rs3217387 B9D2 AR NM_030578 exon3 c.8824+59insA 0.654353 0.4464 Uncertain 19_41889423_A->T 19 41889423 41889423 A T snp 56.74 1/1 6 3 0 3 1.0 intronic rs11880674 TMEM91 AU NM_001042595 exon4 c.5251-42A>T 0.50639 0.4276 0.609173 0.5746 0.4032 Uncertain 19_41889429_A->T 19 41889429 41889429 A T snp 174.9 1/1 15 6 0 6 1.0 intronic rs7259900 TMEM91 AU NM_001042595 exon4 c.5251-36A>T 0.617412 0.4306 0.670984 0.5694 0.3854 Uncertain 19_41889748_T->C 19 41889748 41889748 T C snp 2135.77 1/1 99 83 0 83 1.0 exonic rs12602 TMEM91 AU synonymous SNV NM_001098821 exon4 c.T489C p.A163A 0.618411 0.4306 0.683025 0.6011 0.4311 Uncertain 19_41897674_G->A 19 41897674 41897674 G A snp 539.77 1/1 42 18 0 18 1.0 intronic rs878082 EXOSC5 AU NM_020158 exon4 c.5208-71G>A 0.506989 0.4246 Uncertain 19_41897688_G->A 19 41897688 41897688 G A snp 903.77 1/1 66 29 0 29 1.0 intronic rs878083 EXOSC5 AU NM_020158 exon4 c.5208-57G>A 0.54393 0.4246 Uncertain 19_41903220_G->A 19 41903220 41903220 G A snp 6943.77 1/1 99 245 0 245 1.0 exonic rs10853751 EXOSC5 AU nonsynonymous SNV NM_020158 exon1 c.C14T p.T5M 0.614417 0.4315 0.672228 0.5954 0.4321 0.41 T 0.0 P -0.997 T 0.0 T 0.0 T Pathogenic 19_41903671_A->G 19 41903671 41903671 A G snp 995.77 1/1 75 29 0 29 1.0 upstream rs892044 BCKDHA AR 0.572883 0.4286 Uncertain 19_41903675_A->G 19 41903675 41903675 A G snp 989.77 1/1 75 31 0 31 1.0 upstream rs892043 BCKDHA AR 0.979832 1 Uncertain 19_41919944_A->C 19 41919944 41919944 A C snp 2142.77 1/1 99 71 0 71 1.0 intronic rs3213861 BCKDHA AR NM_000709 exon4 c.16221-9A>C 0.616014 0.4306 0.676100 0.5989 0.4327 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000079239.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 19_41920211_T->C 19 41920211 41920211 T C snp 593.77 1/1 45 18 0 18 1.0 intronic rs3213860 BCKDHA AR NM_000709 exon4 c.16330+149T>C 0.61861 0.4315 Uncertain 19_41928336_T->C 19 41928336 41928336 T C snp 1385.77 1/1 99 43 0 43 1.0 intronic rs284651 BCKDHA AR NM_000709 exon6 c.24543+61T>C 0.618211 0.4325 Uncertain 19_41928652_C->T 19 41928652 41928652 C T snp 5016.77 1/1 99 179 1 178 0.99 exonic rs284652 BCKDHA AR synonymous SNV NM_000709 exon7 c.C972T p.F324F 0.616414 0.4325 0.676073 0.5994 0.4368 Uncertain 19_41928701_C->T 19 41928701 41928701 C T snp 2500.77 0/1 99 205 101 104 0.51 intronic rs284653 BCKDHA AR NM_000709 exon7 c.24943+26C>T 0.257388 0.0913 0.382439 0.3722 0.0794 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000079270.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 19_41928724_G->A 19 41928724 41928724 G A snp 6081.77 1/1 99 223 2 221 0.99 intronic rs284654 BCKDHA AR NM_000709 exon7 c.24943+49G>A 0.585663 0.4325 0.643472 0.5896 0.4374 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000079271.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 19_41928765_C->T 19 41928765 41928765 C T snp 6111.77 1/1 99 226 2 224 0.99 intronic rs284655 BCKDHA AR NM_000709 exon7 c.24943+90C>T 0.614018 0.4325 Uncertain 19_41928867_-->C 19 41928867 41928867 - C indel 6416.73 1/1 99 179 0 179 1.0 intronic rs3217385 BCKDHA AR NM_000709 exon8 c.25170-35insC 0.616613 0.4325 0.674313 0.6449 0.5139 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000079273.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 19_41930396_A->G 19 41930396 41930396 A G snp 7964.77 1/1 99 250 2 248 0.99 exonic rs4674 BCKDHA AR synonymous SNV NM_000709 exon9 c.A1221G p.L407L 0.617013 0.4345 0.676995 0.6000 0.4411 Uncertain 19_41931454_-->GGCCAGGGCCGG 19 41931454 41931454 - GGCCAGGGCCGG indel 7358.73 1/1 99 51 0 51 1.0 UTR3 rs113478859 B3GNT8 AU 0.610423 0.4306 0.5938 0.4255 Uncertain 19_41932084_G->T 19 41932084 41932084 G T snp 7456.77 1/1 99 249 1 248 1.0 exonic rs284660 B3GNT8 AU synonymous SNV NM_198540 exon3 c.C600A p.A200A 0.491014 0.4306 0.551207 0.5630 0.4365 Uncertain 19_41932120_C->T 19 41932120 41932120 C T snp 7896.77 1/1 99 250 0 250 1.0 exonic rs284661 B3GNT8 AU synonymous SNV NM_198540 exon3 c.G564A p.V188V 0.490815 0.4306 0.550515 0.5649 0.4371 Uncertain 19_41932275_T->C 19 41932275 41932275 T C snp 6358.77 1/1 99 222 0 222 1.0 exonic rs284662 B3GNT8 AU nonsynonymous SNV NM_198540 exon3 c.A409G p.S137G 0.621805 0.4335 0.686385 0.6066 0.4376 0.15 T 0.0 P -1.069 T 0.0 T 0.0 T Pathogenic 19_41932612_C->T 19 41932612 41932612 C T snp 4183.77 1/1 99 156 0 156 1.0 exonic rs284663 B3GNT8 AU synonymous SNV NM_198540 exon3 c.G72A p.E24E 0.617412 0.4266 0.680944 0.6022 0.4324 Uncertain 19_42027500_A->G 19 42027500 42027500 A G snp 2043.77 0/1 99 203 111 92 0.45 intergenic PCAT19 AU 0.600839 0.5873 Uncertain 19_42027514_T->A 19 42027514 42027514 T A snp 1968.77 0/1 99 194 109 85 0.44 intergenic PCAT19 AU 0.600839 0.5873 Uncertain 19_42083673_T->C 19 42083673 42083673 T C snp 1363.77 0/1 99 127 67 60 0.47 exonic rs7247842 CEACAM21 AU synonymous SNV NM_001098506 exon2 c.T186C p.L62L 0.230431 0.3562 0.127999 0.0983 0.3746 Uncertain 19_42083739_-->GAC 19 42083739 42083739 - GAC indel 3150.73 0/1 99 126 60 66 0.52 exonic rs3030812 CEACAM21 AU nonframeshift insertion NM_001098506 exon2 c.252_253insGAC p.I84delinsID 0.125799 0.3562 0.030163 0.0649 0.3697 Uncertain 19_42083820_C->G 19 42083820 42083820 C G snp 1158.77 0/1 99 95 42 53 0.56 exonic rs78133615 CEACAM21 AU nonsynonymous SNV NM_001098506 exon2 c.C333G p.N111K 0.122604 0.3562 0.024938 0.0641 0.3746 0.1 T 0.0 P -1.085 T 0.97 D 0.717 D Pathogenic 19_42083849_C->A 19 42083849 42083849 C A snp 792.77 0/1 99 84 50 34 0.4 exonic rs714106 CEACAM21 AU nonsynonymous SNV NM_001098506 exon2 c.C362A p.T121N 0.523562 0.5833 0.560859 0.6806 0.5796 0.05 T 0.000 P -0.922 T 1.0 D 0.997 D Pathogenic 19_42085873_A->G 19 42085873 42085873 A G snp 773.77 0/1 99 77 45 32 0.42 exonic rs2302188 CEACAM21 AU nonsynonymous SNV NM_001098506 exon3 c.A592G p.M198V 0.601038 0.5992 0.650304 0.7142 0.6086 0.06 T 0.0 P -0.978 T 0.024 T 0.001 T Pathogenic 19_42092815_T->A 19 42092815 42092815 T A snp 3128.77 0/1 99 249 115 134 0.54 splicing rs3745936 CEACAM21 AU NM_033543 exon7 c.10190-1T>A 0.646765 0.6042 0.701659 0.7476 0.6019 Pathogenic 19_42125660_T->C 19 42125660 42125660 T C snp 841.77 1/1 63 28 0 28 1.0 UTR3 rs1041994 CEACAM4 AU 0.896565 0.9752 0.783869 0.7911 0.9897 Uncertain 19_42126448_T->C 19 42126448 42126448 T C snp 966.77 1/1 72 37 0 37 1.0 intronic rs9967607 CEACAM4 AU NM_001817 exon3 c.881-135T>C 0.838458 0.9752 Uncertain 19_42126502_C->T 19 42126502 42126502 C T snp 711.77 0/1 99 75 42 33 0.44 intronic rs76959826 CEACAM4 AU NM_001817 exon3 c.881-81C>T 0.00179712 0.0089 Uncertain 19_42127907_G->A 19 42127907 42127907 G A snp 732.77 1/1 57 23 0 23 1.0 intronic rs4803488 CEACAM4 AU NM_001817 exon5 c.2321-116G>A 0.76258 0.9752 Uncertain 19_42128202_G->A 19 42128202 42128202 G A snp 2388.77 1/1 99 90 0 90 1.0 intronic rs8111279 CEACAM4 AU NM_001817 exon5 c.2439+61G>A 0.461462 0.6319 Uncertain 19_42132273_C->T 19 42132273 42132273 C T snp 3427.77 1/1 99 124 0 124 1.0 exonic rs1041992 CEACAM4 AU synonymous SNV NM_001817 exon2 c.G126A p.P42P 0.207468 0.6726 0.029371 0.1062 0.6852 Uncertain 19_42132314_G->C 19 42132314 42132314 G C snp 1955.77 1/1 99 63 0 63 1.0 exonic rs1126454 CEACAM4 AU nonsynonymous SNV NM_001817 exon2 c.C85G p.H29D 0.609625 0.8919 0.498770 0.5511 0.9110 0.13 T 0.0 P -1.097 T 0.0 T 0.0 T Pathogenic 19_42133029_A->G 19 42133029 42133029 A G snp 56.74 1/1 6 2 0 2 1.0 intronic rs3859460 CEACAM4 AU NM_001817 exon7 c.7565-238A>G 0.557308 0.8978 Uncertain 19_42133048_C->T 19 42133048 42133048 C T snp 99.28 1/1 9 3 0 3 1.0 intronic rs3909374 CEACAM4 AU NM_001817 exon7 c.7565-219C>T 0.261781 0.3234 Uncertain 19_42188033_C->- 19 42188033 42188033 C - indel 1337.73 0/1 99 89 38 51 0.57 intronic rs34670266 CEACAM7 AU NM_006890 exon3 c.6655+39delC 0.501997 0.5109 0.480751 0.4623 0.4831 Uncertain 19_42190859_A->T 19 42190859 42190859 A T snp 1443.77 0/1 99 139 74 65 0.47 exonic rs8102488 CEACAM7 AU nonsynonymous SNV NM_001291485 exon2 c.T358A p.F120I 0.593251 0.5109 0.570967 0.5122 0.4831 0.42 T 0.0 P -0.961 T 0.001 T 0.004 T Pathogenic 19_42191935_C->- 19 42191935 42191935 C - indel 788.73 0/1 99 50 26 24 0.48 intronic rs34742303 CEACAM7 AU NM_006890 exon5 c.10691-95delC 0.272764 0.3135 Uncertain 19_42212753_-->GCACAGAGACTG 19 42212753 42212753 - GCACAGAGACTG indel 7071.73 0/1 99 102 46 56 0.55 intronic rs111973464 CEACAM5 AU NM_004363 exon1 c.64+39insGCACAGAGACTG 0.4998 0.2738 0.521876 0.4977 0.3041 Uncertain 19_42221607_A->G 19 42221607 42221607 A G snp 6320.77 1/1 99 223 0 223 1.0 exonic rs7249230 CEACAM5 AU nonsynonymous SNV NM_001291484 exon5 c.A1192G p.K398E 0.897165 0.8274 0.862448 0.8467 0.8244 0.25 T 0.0 P -1.009 T 0.0 T 0.002 T Pathogenic 19_42231341_G->A 19 42231341 42231341 G A snp 232.77 0/1 55 11 2 9 0.82 intronic rs2002926 CEACAM5 AU NM_004363 exon9 c.18622+69G>A 0.388778 0.2956 Uncertain 19_42260569_G->A 19 42260569 42260569 G A snp 2266.77 0/1 99 218 121 97 0.44 exonic rs1805223 CEACAM6 AU synonymous SNV NM_002483 exon2 c.G126A p.P42P 0.255591 0.2738 0.249654 0.2969 0.2954 Uncertain 19_42265866_C->G 19 42265866 42265866 C G snp 2358.77 1/1 99 79 0 79 1.0 intronic rs28547939 CEACAM6 AU NM_002483 exon4 c.6330-10C>G 0.54393 0.5635 0.496924 0.4560 0.5878 Uncertain 19_42265889_G->T 19 42265889 42265889 G T snp 2587.77 1/1 99 95 0 95 1.0 exonic rs11548735 CEACAM6 AU nonsynonymous SNV NM_002483 exon4 c.G716T p.G239V 0.549321 0.5625 0.503998 0.4574 0.5861 0.25 T 0.0 P -1.057 T 0.0 T 0.0 T Pathogenic 19_42311060_-->AAG 19 42311060 42311060 - AAG indel 2025.73 1/1 99 34 0 34 1.0 intronic rs35754226 CEACAM3 AU NM_001277163 exon3 c.12241-1790insAAG 0.557308 0.5367 Uncertain 19_42313803_T->C 19 42313803 42313803 T C snp 603.77 1/1 45 16 0 16 1.0 intronic rs3795022 CEACAM3 AU NM_001815 exon4 c.13393-199T>C 0.558307 0.5377 Uncertain 19_42313921_G->T 19 42313921 42313921 G T snp 5322.77 1/1 99 204 0 204 1.0 intronic rs734107 CEACAM3 AU NM_001815 exon4 c.13393-81G>T 0.520767 0.5367 Uncertain 19_42314203_C->T 19 42314203 42314203 C T snp 509.77 1/1 39 14 0 14 1.0 intronic rs734109 CEACAM3 AU NM_001815 exon4 c.13446+148C>T 0.518171 0.5238 Uncertain 19_42315281_G->T 19 42315281 42315281 G T snp 891.77 1/1 63 35 0 35 1.0 UTR3 rs899662 CEACAM3 AU 0.556909 0.5367 0.518182 0.4209 0.5599 Uncertain 19_42315300_G->T 19 42315300 42315300 G T snp 786.77 1/1 57 30 0 30 1.0 UTR3 rs2008808 CEACAM3 AU 0.519169 0.5357 0.461991 0.4074 0.5590 Uncertain 19_42341858_A->G 19 42341858 42341858 A G snp 263.8 1/1 21 8 0 8 1.0 intronic rs10404939 LYPD4 AU NM_173506 exon2 c.792-150A>G 0.596246 0.5228 Uncertain 19_42342319_A->G 19 42342319 42342319 A G snp 1127.77 1/1 81 41 0 41 1.0 exonic rs2290695 LYPD4 AU synonymous SNV NM_001291419 exon4 c.T123C p.V41V 0.605431 0.5208 0.600953 0.5192 0.5601 Uncertain 19_42342923_T->A 19 42342923 42342923 T A snp 2115.77 1/1 99 76 0 76 1.0 intronic rs10414356 LYPD4 AU NM_173506 exon3 c.1738-31T>A 0.596645 0.5248 0.590189 0.5043 0.5552 Uncertain 19_42343155_G->T 19 42343155 42343155 G T snp 2378.77 1/1 99 67 0 67 1.0 intronic rs4130852 LYPD4 AU NM_173506 exon3 c.1882+57G>T 0.596645 0.5248 Uncertain 19_42343526_G->T 19 42343526 42343526 G T snp 1604.77 1/1 99 52 1 51 0.98 intronic rs3922888 LYPD4 AU NM_173506 exon4 c.2263+47G>T 0.597843 0.5248 Uncertain 19_42354629_T->C 19 42354629 42354629 T C snp 4685.77 1/1 99 161 0 161 1.0 exonic rs2305809 DMRTC2 AU synonymous SNV NM_001040283 exon8 c.T852C p.G284G 0.608427 0.5258 0.598954 0.5079 0.5551 Uncertain 19_42373298_G->A 19 42373298 42373298 G A snp 841.77 1/1 63 28 0 28 1.0 intronic rs1366610 RPS19 AD NM_001022 exon4 c.8440+14G>A 0.558706 0.5079 0.554675 0.4962 0.5415 CLINSIG=non-pathogenic;CLNDBN=not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000127805.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Uncertain 19_42373679_C->T 19 42373679 42373679 C T snp 875.77 1/1 66 24 0 24 1.0 intronic RPS19 AD NM_001022 exon5 c.8924-89C>T 0.558506 0.5089 0.5094 0.5636 Uncertain 19_42373893_C->T 19 42373893 42373893 C T snp 2702.77 1/1 99 96 0 96 1.0 intronic RPS19 AD NM_001022 exon5 c.8979+70C>T 0.759185 0.8036 0.739816 Uncertain 19_42375244_C->T 19 42375244 42375244 C T snp 2282.77 1/1 99 77 0 77 1.0 intronic RPS19 AD NM_001022 exon6 c.10574-174C>T 0.558107 0.5079 Uncertain 19_42392130_T->C 19 42392130 42392130 T C snp 249.77 0/1 99 19 11 8 0.42 splicing rs28396197 ARHGEF1 AU NM_199002 exon2 c.3600-4T>C 0.299521 0.1835 0.238044 0.1021 0.1975 Pathogenic 19_42392310_C->T 19 42392310 42392310 C T snp 1646.77 0/1 99 163 87 76 0.47 exonic rs2288509 ARHGEF1 AU synonymous SNV NM_004706 exon3 c.C72T p.I24I 0.267173 0.2054 0.194679 0.0918 0.2196 Uncertain 19_42392441_T->C 19 42392441 42392441 T C snp 434.77 0/1 99 28 14 14 0.5 intronic rs16975619 ARHGEF1 AU NM_199002 exon3 c.3815+92T>C 0.288538 0.2153 Uncertain 19_42395970_G->A 19 42395970 42395970 G A snp 181.77 0/1 99 11 5 6 0.55 intronic rs8113339 ARHGEF1 AU NM_199002 exon5 c.7561-125G>A 0.267173 0.2063 Uncertain 19_42396266_G->A 19 42396266 42396266 G A snp 1149.77 0/1 99 119 71 48 0.4 intronic rs8113686 ARHGEF1 AU NM_199002 exon5 c.7660+72G>A 0.302516 0.2063 Uncertain 19_42397411_T->C 19 42397411 42397411 T C snp 503.77 0/1 99 66 41 25 0.38 intronic rs142963850 ARHGEF1 AU NM_199002 exon8 c.8840+37T>C 0.0726837 0.2054 0.001696 0.0065 0.0651 Uncertain 19_42397430_A->G 19 42397430 42397430 A G snp 360.77 0/1 99 53 36 17 0.32 intronic rs147308449 ARHGEF1 AU NM_199002 exon8 c.8840+56A>G 0.0754792 0.2054 Uncertain 19_42397438_G->A 19 42397438 42397438 G A snp 218.77 0/1 99 39 29 10 0.26 intronic ARHGEF1 AU NM_199002 exon8 c.8840+64G>A Uncertain 19_42397441_T->G 19 42397441 42397441 T G snp 151.77 0/1 99 35 25 10 0.29 intronic ARHGEF1 AU NM_199002 exon8 c.8840+67T>G Uncertain 19_42397442_C->T 19 42397442 42397442 C T snp 152.77 0/1 99 35 27 8 0.23 intronic ARHGEF1 AU NM_199002 exon8 c.8840+68C>T Uncertain 19_42398450_T->C 19 42398450 42398450 T C snp 2812.77 0/1 99 242 121 121 0.5 intronic rs12104228 ARHGEF1 AU NM_199002 exon9 c.9845+71T>C 0.295327 0.2063 Uncertain 19_42398769_G->A 19 42398769 42398769 G A snp 883.77 0/1 99 60 20 40 0.67 intronic rs144864376 ARHGEF1 AU NM_199002 exon11 c.10200+35G>A 0.00559105 0.0278 0.0016 0.0223 Uncertain 19_42400406_-->C 19 42400406 42400406 - C indel 170.73 0/1 99 10 4 6 0.6 intronic rs11368847 ARHGEF1 AU NM_199002 exon13 c.11915-43insC 0.320687 0.2411 0.259678 0.2476 0.2836 Uncertain 19_42409039_T->C 19 42409039 42409039 T C snp 1521.77 0/1 99 105 43 62 0.59 intronic rs2288512 ARHGEF1 AU NM_199002 exon23 c.20566-61T>C 0.307508 0.2034 Uncertain 19_42463447_C->T 19 42463447 42463447 C T snp 3571.77 1/1 99 140 0 140 1.0 UTR5 RABAC1 AU 0.717652 0.8165 0.679763 0.6579 0.8141 Uncertain 19_42471050_G->C 19 42471050 42471050 G C snp 667.77 1/1 48 26 0 26 1.0 UTR3 ATP1A3 AD 0.719449 0.8185 0.711678 0.6374 0.8172 0 D 1.000 P -0.924 T 0.003 T 0.002 T Uncertain 19_42474200_A->T 19 42474200 42474200 A T snp 469.77 1/1 36 12 0 12 1.0 intronic ATP1A3 AD NM_001256214 exon6 c.3248-136A>T 0.735024 0.8185 Uncertain 19_42489516_A->C 19 42489516 42489516 A C snp 5390.77 1/1 99 197 1 196 0.99 exonic rs2217342 ATP1A3 AD synonymous SNV NM_152296 exon7 c.T666G p.T222T 0.901558 0.876 0.929725 0.8894 0.8740 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000145249.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 19_42730017_C->T 19 42730017 42730017 C T snp 2475.77 0/1 99 250 138 112 0.45 exonic rs750543861 ZNF526 AU nonsynonymous SNV NM_133444 exon3 c.C1462T p.R488C 2.489e-05 0.0001 0.13 T 0.996 D -1.123 T 0.999 D 0.861 D ID=COSM997268;OCCURENCE=1(endometrium) Pathogenic 19_42736267_A->G 19 42736267 42736267 A G snp 1880.77 1/1 99 69 0 69 1.0 exonic rs851609 GSK3A AU synonymous SNV NM_019884 exon10 c.T1320C p.L440L 1 1 0.999385 0.9997 0.9997 Uncertain 19_42793590_G->A 19 42793590 42793590 G A snp 524.77 0/1 99 50 26 24 0.48 intronic rs3826706 CIC AU NM_001304815 exon9 c.17623+32G>A 0.376198 0.6022 0.398586 0.4458 0.6073 Uncertain 19_42799299_T->C 19 42799299 42799299 T C snp 33.77 0/1 62 41 20 21 0.51 exonic rs745695673 CIC AU nonsynonymous SNV NM_015125 exon20 c.T4783C p.S1595P 0 0 0 D 1 N -1.091 T 0.971 D 0.441 D Pathogenic 19_42848764_A->G 19 42848764 42848764 A G snp 2067.77 1/1 99 77 0 77 1.0 intronic rs874002 MEGF8 AR NM_001410 exon11 c.18342+27A>G 0.878395 1 0.723027 0.7399 0.9993 Uncertain 19_42937902_G->A 19 42937902 42937902 G A snp 1755.77 0/1 99 168 91 77 0.46 ncRNA_intronic rs76940418 LIPE-AS1 AU 0.0131789 0.0556 0.000461 0.0072 0.0605 Uncertain 19_42938056_-->ATG 19 42938056 42938056 - ATG indel 3934.73 0/1 99 162 74 88 0.54 ncRNA_intronic rs139094769 LIPE-AS1 AU 0.0131789 0.0556 0.000479 0.0071 0.0600 Uncertain 19_43013363_A->G 19 43013363 43013363 A G snp 1094.77 0/1 99 115 63 52 0.45 exonic rs11666350 CEACAM1 AU synonymous SNV NM_001184813 exon8 c.T1191C p.Y397Y 0.157548 0.2123 0.098416 0.1378 0.2222 Uncertain 19_43013394_A->G 19 43013394 43013394 A G snp 1124.77 0/1 99 107 58 49 0.46 ncRNA_intronic rs10405906 LIPE-AS1 AU 0.278754 0.2123 0.222974 0.1733 0.2239 Uncertain 19_43257377_C->G 19 43257377 43257377 C G snp 141.03 1/1 12 4 0 4 1.0 UTR3 rs8100679 PSG8 AU 0.926518 1 Uncertain 19_43372386_T->C 19 43372386 43372386 T C snp 2270.77 0/1 99 204 102 102 0.5 exonic rs1064491 PSG1 AU synonymous SNV NM_001184825 exon5 c.A1110G p.E370E 0.286741 0.4167 0.169411 0.1938 0.4264 Uncertain 19_43420117_G->T 19 43420117 43420117 G T snp 40.77 0/1 69 6 3 3 0.5 intronic rs10421952 PSG6 AU NM_002782 exon5 c.12471-159G>T 0.446685 0.4315 Uncertain 19_43420264_C->T 19 43420264 43420264 C T snp 3261.77 0/1 99 250 117 133 0.53 intronic rs2074856 PSG6 AU NM_002782 exon5 c.12471-12C>T 0.445487 0.4315 0.361825 0.3458 0.4352 Uncertain 19_43420451_G->C 19 43420451 43420451 G C snp 2048.77 0/1 99 152 80 72 0.47 exonic rs3198831 PSG6 AU nonsynonymous SNV NM_001031850 exon2 c.C253G p.H85D 0.453474 0.4325 0.366538 0.3467 0.4350 1 T 0.0 P -0.984 T 0.0 T 0.0 T Pathogenic 19_43429143_T->A 19 43429143 43429143 T A snp 43.77 0/1 62 4 2 2 0.5 intronic rs28790593 PSG7 AU NM_001290042 exon1 c.17+167T>A 0.278355 0.4236 Uncertain 19_43433570_A->C 19 43433570 43433570 A C snp 854.77 0/1 99 67 36 31 0.46 intronic rs2074857 PSG7 AU NM_001290042 exon4 c.4634-23A>C 0.403554 0.4345 0.323973 0.3565 0.4383 Uncertain 19_43433805_A->G 19 43433805 43433805 A G snp 1476.77 0/1 99 124 65 59 0.48 exonic rs1065178 PSG7 AU synonymous SNV NM_001206650 exon2 c.T132C p.I44I 0.445088 0.4216 0.375711 0.3621 0.4310 Uncertain 19_43439528_C->A 19 43439528 43439528 C A snp 669.77 0/1 99 47 22 25 0.53 intronic rs10422023 PSG7 AU NM_001290042 exon5 c.10596-27C>A 0.277955 0.4216 0.169051 0.2082 0.4332 Uncertain 19_43439793_G->A 19 43439793 43439793 G A snp 4960.77 1/1 99 167 0 167 1.0 exonic rs7245978 PSG7 AU unknown 1 1 1.0000 1 Uncertain 19_43448156_G->A 19 43448156 43448156 G A snp 451.77 0/1 99 69 48 21 0.3 intergenic rs34202970 PSG7 AU 0.317492 0.3214 Uncertain 19_43519362_C->T 19 43519362 43519362 C T snp 5579.77 1/1 99 207 0 207 1.0 exonic rs11083680 PSG11 AU synonymous SNV NM_001113410 exon3 c.G504A p.Q168Q 0.647564 0.9871 0.520243 0.5252 0.9912 Uncertain 19_43519442_T->C 19 43519442 43519442 T C snp 6042.77 1/1 99 226 0 226 1.0 exonic rs10414166 PSG11 AU nonsynonymous SNV NM_001113410 exon3 c.A424G p.N142D 0.85643 0.999 0.764928 0.7500 0.9992 1 T 0.0 P -1.006 T 0.0 T 0.001 T Pathogenic 19_43530379_A->G 19 43530379 43530379 A G snp 555.77 1/1 48 23 0 23 1.0 intronic rs2526716 PSG11 AU NM_001113410 exon5 c.16311-81A>G 0.595248 0.9772 Uncertain 19_43530390_C->T 19 43530390 43530390 C T snp 930.77 1/1 75 30 0 30 1.0 intronic rs2736151 PSG11 AU NM_001113410 exon5 c.16311-70C>T 0.688698 0.9871 Uncertain 19_43530473_G->C 19 43530473 43530473 G C snp 1269.77 0/1 99 97 44 53 0.55 exonic rs74644375 PSG11 AU nonsynonymous SNV NM_001113410 exon1 c.C52G p.L18V 0.139177 0.3641 0.034082 0.0741 0.3753 0.59 T 0.0 P -1.001 T 0.569 P 0.327 P Pathogenic 19_43530641_T->- 19 43530641 43530641 T - indel 1924.73 1/1 99 45 0 45 1.0 upstream rs60941975 PSG11 AU 1 1 Uncertain 19_43576164_G->T 19 43576164 43576164 G T snp 1151.77 0/1 99 59 21 38 0.64 intronic rs34094925 PSG2 AU NM_031246 exon3 c.5398+58G>T 0.133586 0.3423 Uncertain 19_43674107_A->C 19 43674107 43674107 A C snp 488.77 0/1 99 27 12 15 0.56 intronic rs75994827 PSG5 AU 0.309704 0.5972 Uncertain 19_43674406_T->- 19 43674406 43674406 T - indel 250.73 0/1 99 17 9 8 0.47 intronic rs59577450 PSG5 AU NM_001130014 exon2 c.44+116delT 0.32508 0.5972 Uncertain 19_43689004_G->A 19 43689004 43689004 G A snp 1732.77 0/1 99 163 96 67 0.41 exonic rs2302112 PSG5 AU synonymous SNV NM_001130014 exon2 c.C360T p.Y120Y 0.324681 0.5952 0.177131 0.2408 0.6015 Uncertain 19_43690506_G->C 19 43690506 43690506 G C snp 1732.77 1/1 99 63 0 63 1.0 exonic rs8107936 PSG5 AU nonsynonymous SNV NM_001130014 exon1 c.C52G p.L18V 0.730631 0.9762 0.642318 0.6487 0.9741 0.09 T 0.0 P -1.113 T 0.254 T 0.424 T Pathogenic 19_43690667_C->T 19 43690667 43690667 C T snp 378.77 0/1 99 37 21 16 0.43 UTR5 rs12610783 PSG5 AU 0.211262 0.3829 Uncertain 19_43690668_T->C 19 43690668 43690668 T C snp 358.77 0/1 99 37 22 15 0.41 UTR5 rs12609363 PSG5 AU 0.211262 0.3829 Uncertain 19_43690678_G->A 19 43690678 43690678 G A snp 371.77 0/1 99 32 17 15 0.47 UTR5 rs12610809 PSG5 AU 0.210863 0.3829 Uncertain 19_43690700_T->C 19 43690700 43690700 T C snp 139.77 0/1 99 21 14 7 0.33 upstream rs12609374 PSG5 AU 0.210663 0.3819 Uncertain 19_43708926_G->T 19 43708926 43708926 G T snp 1280.77 1/1 93 48 0 48 1.0 intronic rs11673307 PSG4 AU NM_001276495 exon4 c.10880+523G>T 0.721845 0.87 0.6205 0.8924 0 D 0.0 P -1.103 T Uncertain 19_43708968_T->C 19 43708968 43708968 T C snp 1784.77 1/1 99 76 0 76 1.0 intronic rs11669435 PSG4 AU NM_001276495 exon4 c.10880+565T>C 0.721645 0.87 0.6358 0.9108 0.02 T 0.0 P -1.046 T Uncertain 19_43708979_C->- 19 43708979 43708979 C - indel 3106.73 1/1 99 76 0 76 1.0 intronic rs67183694 PSG4 AU NM_001276495 exon4 c.10880+576delC 0.732628 0.8988 0.6340 0.9064 Uncertain 19_43709072_G->A 19 43709072 43709072 G A snp 1033.77 1/1 75 36 0 36 1.0 intronic rs56700032 PSG4 AU NM_001276495 exon5 c.12101-552G>A 0.721645 0.87 0.4975 0.8526 Uncertain 19_43772270_G->T 19 43772270 43772270 G T snp 811.77 0/1 99 69 39 30 0.43 exonic rs3746296 PSG9 AU synonymous SNV NM_001301707 exon2 c.C96A p.T32T 0.204872 0.38 0.120867 0.1182 0.3751 1.000 P -0.908 T Likely benign 19_43772302_C->T 19 43772302 43772302 C T snp 332.77 0/1 99 37 23 14 0.38 splicing rs3746297 PSG9 AU NM_001301709 exon3 c.14541+1C>T 0.189497 0.38 0.108565 0.1155 0.3761 0.460 P Pathogenic 19_43780616_G->A 19 43780616 43780616 G A snp 364.77 0/1 99 95 68 27 0.28 intergenic rs201953667 PSG9 AU Uncertain 19_43780619_C->T 19 43780619 43780619 C T snp 351.77 0/1 99 94 67 27 0.29 intergenic rs199862715 PSG9 AU Uncertain 19_43780698_A->G 19 43780698 43780698 A G snp 193.77 0/1 99 37 24 13 0.35 intergenic rs762924656 PSG9 AU Uncertain 19_43859549_T->C 19 43859549 43859549 T C snp 269.8 1/1 21 9 0 9 1.0 intronic rs1962260 CD177 AU NM_020406 exon4 c.1946-263T>C 0.722843 0.8621 Uncertain 19_43860001_G->T 19 43860001 43860001 G T snp 453.77 0/1 99 28 14 14 0.5 intronic rs112666621 CD177 AU NM_020406 exon4 c.2069+66G>T Uncertain 19_43860030_G->A 19 43860030 43860030 G A snp 228.77 0/1 99 23 13 10 0.43 intronic rs73039860 CD177 AU NM_020406 exon4 c.2069+95G>A 0.148562 0.1974 Uncertain 19_43860053_G->A 19 43860053 43860053 G A snp 410.78 0/1 25 21 4 17 0.81 intronic rs10408630 CD177 AU NM_020406 exon5 c.2277-90G>A 0.358027 0.1984 Uncertain 19_43860192_T->G 19 43860192 43860192 T G snp 80.77 0/1 99 170 140 30 0.18 exonic rs12981714 CD177 AU unknown 0.961262 0.9474 0.9610 0.9733 0.87 T 0.989 D -1.033 T Uncertain 19_43860251_G->A 19 43860251 43860251 G A snp 243.78 1/1 24 161 91 70 0.43 exonic rs12980412 CD177 AU unknown 0.923123 0.9306 0.9186 0.8947 0.84 T 0.0 P -0.915 T Uncertain 19_43860255_T->G 19 43860255 43860255 T G snp 242.78 1/1 24 159 91 68 0.43 exonic rs12981771 CD177 AU unknown 0.920927 0.9306 0.9146 0.8933 0.44 T 0.0 P -1.019 T Uncertain 19_43864537_C->T 19 43864537 43864537 C T snp 1502.77 0/1 99 145 79 66 0.46 exonic rs148509022 CD177 AU unknown 0.00658946 0.0317 0.000081 0.0022 0.0281 Uncertain 19_43864548_C->A 19 43864548 43864548 C A snp 3346.77 1/1 99 111 1 110 0.99 exonic rs10425835 CD177 AU unknown 0.440695 0.4196 0.433366 0.4511 0.4757 Uncertain 19_43865316_C->G 19 43865316 43865316 C G snp 98.03 1/1 12 115 60 55 0.48 exonic rs200660811 CD177 AU unknown 0.712859 0.7629 0.5270 0.5316 Uncertain 19_43865320_C->A 19 43865320 43865320 C A snp 98.03 1/1 12 116 60 56 0.48 exonic rs587670082 CD177 AU unknown 0.712859 0.7629 Uncertain 19_43865321_T->A 19 43865321 43865321 T A snp 93.03 1/1 12 117 62 55 0.47 exonic rs201821720 CD177 AU unknown 0.712859 0.7629 ID=CM155051;DIS=Neutrophil antigen 2 deficiency;TAG=DM;PUB=26024230 DM Uncertain 19_43865324_A->G 19 43865324 43865324 A G snp 98.03 1/1 12 120 64 56 0.47 exonic rs200145410 CD177 AU unknown 0.712859 0.7629 Uncertain 19_43865333_G->A 19 43865333 43865333 G A snp 98.03 1/1 12 134 68 66 0.49 exonic rs12978146 CD177 AU unknown 0.5368 0.5297 Uncertain 19_43865499_T->C 19 43865499 43865499 T C snp 2672.77 1/1 99 133 18 115 0.86 intronic rs10404417 CD177 AU NM_020406 exon7 c.7614+19T>C 0.6246 0.5952 Uncertain 19_43865840_G->T 19 43865840 43865840 G T snp 492.77 1/1 39 13 0 13 1.0 intronic rs28464741 CD177 AU NM_020406 exon8 c.7865+109G>T 0.456869 0.4335 Uncertain 19_43865847_G->T 19 43865847 43865847 G T snp 107.77 0/1 99 11 7 4 0.36 intronic rs138492312 CD177 AU NM_020406 exon8 c.7865+116G>T 0.0117812 0.0516 Uncertain 19_43866412_G->A 19 43866412 43866412 G A snp 3925.77 0/1 99 250 108 142 0.57 exonic rs188387562 CD177 AU unknown 0.0061901 0.0308 0.0022 0.0310 Uncertain 19_43866617_C->T 19 43866617 43866617 C T snp 3954.77 1/1 99 131 0 131 1.0 UTR3 rs36081957 CD177 AU 0.197284 0.2351 Uncertain 19_43876891_G->A 19 43876891 43876891 G A snp 2004.77 1/1 99 59 1 58 0.98 intergenic rs7246785 CD177 AU 0.228634 0.2282 Uncertain 19_43877394_C->T 19 43877394 43877394 C T snp 1888.77 1/1 99 99 6 93 0.94 intergenic rs3745996 CD177 AU 0.226238 0.2341 Uncertain 19_43877406_G->T 19 43877406 43877406 G T snp 2020.77 1/1 99 103 6 97 0.94 intergenic rs3745997 CD177 AU 0.119409 0.2341 Uncertain 19_43920443_C->G 19 43920443 43920443 C G snp 2990.77 1/1 99 103 0 103 1.0 intronic rs3810375 TEX101 AU NM_031451 exon6 c.9738+49C>G 0.712061 0.7946 0.680071 0.6600 0.7790 Uncertain 19_43979514_G->C 19 43979514 43979514 G C snp 348.77 0/1 99 40 25 15 0.38 UTR3 rs200528397 PHLDB3 AU 0.000599042 0.003 0.0001 0.0014 Uncertain 19_44047550_T->C 19 44047550 44047550 T C snp 747.77 1/1 57 26 0 26 1.0 exonic rs3547 XRCC1 AU synonymous SNV NM_006297 exon17 c.A1896G p.Q632Q 0.710663 0.8849 0.607489 0.6365 0.8935 ID=CM1313962;DIS=Head and neck cancer, association with;TAG=DP;PUB=23055018 DP Uncertain 19_44047697_G->A 19 44047697 44047697 G A snp 1137.77 0/1 99 131 79 52 0.4 intronic rs3213400 XRCC1 AU NM_006297 exon1 c.114+40G>A 0.00259585 0.0129 0.0014 0.0192 Uncertain 19_44047826_T->A 19 44047826 44047826 T A snp 2602.77 1/1 99 95 0 95 1.0 exonic rs2682557 XRCC1 AU nonsynonymous SNV NM_006297 exon16 c.A1726T p.N576Y 1 1 0.999923 1.0000 1 1 T 0.002 P -0.944 T 0.0 T 0.0 T ID=CM1313960;DIS=Head and neck cancer;TAG=DM?;PUB=23055018 DM? Pathogenic 19_44059141_G->T 19 44059141 44059141 G T snp 56.74 1/1 6 2 0 2 1.0 intronic rs1799778 XRCC1 AU NM_006297 exon14 c.11413+185G>T 0.277556 0.2331 Uncertain 19_44065388_C->T 19 44065388 44065388 C T snp 99.28 1/1 9 3 0 3 1.0 intronic rs1001581 XRCC1 AU NM_006297 exon15 c.17629+216C>T 0.36861 0.3661 Uncertain 19_44079687_G->A 19 44079687 44079687 G A snp 1086.77 1/1 81 36 0 36 1.0 UTR5 rs3213245 XRCC1 AU 0.678514 0.873 0.588519 0.6595 0.8946 ID=CR063419;DIS=Increased lung cancer risk, association with;TAG=DFP;PUB=16652158 DFP Uncertain 19_44081288_A->G 19 44081288 44081288 A G snp 1383.77 1/1 99 51 0 51 1.0 exonic rs2682585 PINLYP AU nonsynonymous SNV NM_001193621 exon2 c.A17G p.H6R 0.824281 0.88 0.7885 0.91 1 T -0.961 T Pathogenic 19_44081499_A->G 19 44081499 44081499 A G snp 1218.77 1/1 87 43 0 43 1.0 intronic rs2682586 PINLYP AU NM_001193621 exon2 c.142+86A>G 0.824681 0.88 Uncertain 19_44081601_G->C 19 44081601 44081601 G C snp 141.03 1/1 12 4 0 4 1.0 intronic rs3810378 PINLYP AU NM_001193621 exon2 c.142+188G>C 0.261781 0.2401 Uncertain 19_44082791_T->C 19 44082791 44082791 T C snp 1730.77 1/1 99 63 0 63 1.0 exonic rs12608635 PINLYP AU synonymous SNV NM_001193621 exon3 c.T192C p.H64H 0.271565 0.2411 0.3412 0.2755 Uncertain 19_44082945_T->C 19 44082945 44082945 T C snp 2401.77 1/1 99 87 0 87 1.0 intronic rs304731 PINLYP AU NM_001193621 exon3 c.1587+87T>C 0.824481 0.88 0.8019 0.9130 0.87 T -1.042 T Uncertain 19_44098903_T->A 19 44098903 44098903 T A snp 387.77 1/1 30 11 0 11 1.0 intronic rs304726 IRGQ AU NM_001007561 exon2 c.2783-57T>A 0.6877 0.6171 Uncertain 19_44098963_C->G 19 44098963 44098963 C G snp 1820.77 1/1 99 57 0 57 1.0 exonic rs304725 IRGQ AU synonymous SNV NM_001007561 exon2 c.G528C p.R176R 0.493211 0.4911 0.503619 0.5266 0.5348 Uncertain 19_44111569_AC->- 19 44111569 44111570 AC - indel 3026.73 1/1 99 73 0 73 1.0 UTR3 rs147172567 ZNF428 AU Uncertain 19_44117271_G->T 19 44117271 44117271 G T snp 1461.77 0/1 99 101 41 60 0.59 exonic rs12608798 SRRM5 AU nonsynonymous SNV NM_001145641 exon1 c.G998T p.R333I 0.0003 0.0100 0.04 T 1 D -0.640 T 0.999 D 0.964 D Pathogenic 19_44131297_T->C 19 44131297 44131297 T C snp 3180.76 1/1 99 114 0 114 1.0 intronic rs407049 CADM4 AU NM_145296 exon7 c.3836-20T>C 0.998403 1 0.992388 0.9941 1 Uncertain 19_44159489_G->A 19 44159489 44159489 G A snp 530.77 0/1 99 40 23 17 0.42 intronic rs3786953 PLAUR AU NM_002659 exon3 c.6549-101G>A 0.198283 0.2966 Uncertain 19_44172188_T->C 19 44172188 44172188 T C snp 402.77 1/1 33 11 0 11 1.0 intronic rs344783 PLAUR AU NM_002659 exon6 c.18802+345T>C 0.515775 0.4464 Uncertain 19_44237391_T->C 19 44237391 44237391 T C snp 663.77 0/1 99 60 31 29 0.48 intronic rs75377877 SMG9 AR NM_019108 exon3 c.1728-84T>C 0.0636981 0.1587 ID=COSN165843;OCCURENCE=1(breast) Uncertain 19_44248878_A->G 19 44248878 44248878 A G snp 428.77 0/1 99 26 9 17 0.65 intronic rs346532 SMG9 AR NM_019108 exon9 c.13176-45A>G 0.325479 0.2361 0.351530 0.2623 0.2470 Uncertain 19_44251470_A->T 19 44251470 44251470 A T snp 48.74 1/1 6 2 0 2 1.0 intronic rs346536 SMG9 AR NM_019108 exon10 c.15846-123A>T 0.335463 0.2351 Uncertain 19_44254972_C->T 19 44254972 44254972 C T snp 1380.77 1/1 99 46 0 46 1.0 intronic rs164070 SMG9 AR NM_019108 exon13 c.19152+73C>T 0.93151 0.9603 Uncertain 19_44268654_T->C 19 44268654 44268654 T C snp 45.77 0/1 74 8 4 4 0.5 intergenic rs12609587 SMG9 AR 0.281749 0.2808 Uncertain 19_44268678_C->T 19 44268678 44268678 C T snp 45.77 0/1 74 8 4 4 0.5 intergenic rs12611034 SMG9 AR 0.281749 0.2808 Uncertain 19_44273516_T->C 19 44273516 44273516 T C snp 547.77 0/1 99 51 32 19 0.37 intronic rs347519 KCNN4 AD NM_002250 exon4 c.1899-77T>C 0.310903 0.2798 0.2573 0.2875 ID=CR1413347;DIS=Differential p53 binding;TAG=FP;PUB=25179167 FP Uncertain 19_44274041_G->A 19 44274041 44274041 G A snp 534.77 0/1 99 45 22 23 0.51 intronic rs2306799 KCNN4 AD NM_002250 exon5 c.2287+60G>A 0.206869 0.2778 Uncertain 19_44276370_A->G 19 44276370 44276370 A G snp 1218.77 1/1 90 38 0 38 1.0 intronic rs3760979 KCNN4 AD NM_002250 exon6 c.4593+83A>G 0.855631 0.9444 Uncertain 19_44278779_T->G 19 44278779 44278779 T G snp 798.77 0/1 99 58 25 33 0.57 intronic rs649540 KCNN4 AD NM_002250 exon7 c.7077+8T>G 0.294129 0.2232 0.236871 0.2332 0.2552 Uncertain 19_44278781_G->A 19 44278781 44278781 G A snp 794.77 0/1 99 57 25 32 0.56 intronic rs563995 KCNN4 AD NM_002250 exon7 c.7077+10G>A 0.316294 0.2232 0.2710 0.2551 Uncertain 19_44280837_G->A 19 44280837 44280837 G A snp 890.77 1/1 66 33 1 32 0.97 intronic rs514328 KCNN4 AD NM_002250 exon8 c.9094+49G>A 0.807508 0.88 0.829463 0.8584 0.8880 Uncertain 19_44302409_C->T 19 44302409 44302409 C T snp 157.84 0/1 18 8 1 7 0.88 intronic LYPD5 AU NM_001031749 exon2 c.864-197C>T Uncertain 19_44302412_A->T 19 44302412 44302412 A T snp 198.77 0/1 48 9 3 6 0.67 intronic LYPD5 AU NM_001031749 exon2 c.864-194A>T Uncertain 19_44302413_A->G 19 44302413 44302413 A G snp 179.77 0/1 56 9 3 6 0.67 intronic LYPD5 AU NM_001031749 exon2 c.864-193A>G Uncertain 19_44302414_T->C 19 44302414 44302414 T C snp 187.77 0/1 80 9 3 6 0.67 intronic LYPD5 AU NM_001031749 exon2 c.864-192T>C Uncertain 19_44302417_T->C 19 44302417 44302417 T C snp 216.77 0/1 57 10 3 7 0.7 intronic LYPD5 AU NM_001031749 exon2 c.864-189T>C Uncertain 19_44303066_C->G 19 44303066 44303066 C G snp 947.77 0/1 99 93 51 42 0.45 exonic rs11547806 LYPD5 AU nonsynonymous SNV NM_001288763 exon2 c.G139C p.A47P 0.621406 0.5437 0.588167 0.6451 0.5641 0.45 T 0.0 P -0.902 T 0.004 T 0.001 T Pathogenic 19_44306309_T->A 19 44306309 44306309 T A snp 105.77 0/1 50 9 4 5 0.56 intronic LYPD5 AU NM_001031749 exon5 c.4726-159T>A Uncertain 19_44306347_A->T 19 44306347 44306347 A T snp 324.77 0/1 99 33 21 12 0.36 intronic rs543599339 LYPD5 AU NM_001031749 exon5 c.4726-121A>T 0.120008 0.0536 Uncertain 19_44306348_T->C 19 44306348 44306348 T C snp 321.77 0/1 99 33 20 13 0.39 intronic rs563497925 LYPD5 AU NM_001031749 exon5 c.4726-120T>C 0.120008 0.0536 Uncertain 19_44306359_A->G 19 44306359 44306359 A G snp 562.77 0/1 99 47 23 24 0.51 intronic rs117773106 LYPD5 AU NM_001031749 exon5 c.4726-109A>G 0.207268 0.1111 Uncertain 19_44306482_C->T 19 44306482 44306482 C T snp 1740.77 0/1 99 163 87 76 0.47 exonic rs11879355 LYPD5 AU synonymous SNV NM_001031749 exon1 c.G51A p.A17A 0.214457 0.1101 0.2792 0.1036 Uncertain 19_44306576_G->T 19 44306576 44306576 G T snp 1118.77 0/1 99 116 67 49 0.42 UTR5 rs62116993 LYPD5 AU 0.20627 0.1141 0.309899 0.2656 0.1086 Uncertain 19_44351107_G->A 19 44351107 44351107 G A snp 381.77 0/1 99 29 13 16 0.55 exonic rs10421861 ZNF283 AU synonymous SNV NM_181845 exon7 c.G354A p.T118T 0.446885 0.4643 0.407462 0.4908 0.4827 Uncertain 19_44351167_GGAGAT->- 19 44351167 44351172 GGAGAT - indel 3576.73 0/1 99 89 47 42 0.47 exonic rs71907168 ZNF283 AU frameshift deletion 0.38778 0.2401 0.387583 0.4346 0.2465 ID=COSM1394323,COSM1394324;OCCURENCE=1(large_intestine),1(liver) Pathogenic 19_44351694_C->T 19 44351694 44351694 C T snp 1119.77 0/1 99 133 81 52 0.39 exonic rs2195980 ZNF283 AU nonsynonymous SNV NM_001297752 exon6 c.C524T p.T175I 0.802915 0.5982 0.887649 0.8170 0.5950 0.08 T 1.000 P -1.063 T 0.0 T 0.002 T Pathogenic 19_44351836_G->A 19 44351836 44351836 G A snp 1041.77 0/1 99 103 57 46 0.45 exonic rs957569 ZNF283 AU synonymous SNV NM_001297752 exon6 c.G666A p.Q222Q 0.682308 0.374 0.789763 0.7127 0.3590 Uncertain 19_44352665_T->C 19 44352665 44352665 T C snp 1692.77 0/1 99 157 85 72 0.46 exonic rs2356437 ZNF283 AU nonsynonymous SNV NM_001297752 exon6 c.T1495C p.C499R 0.682308 0.374 0.774199 0.7125 0.3584 0.78 T 0.000 P -1.046 T 0.0 T 0.0 T Pathogenic 19_44352666_G->A 19 44352666 44352666 G A snp 1697.77 0/1 99 156 84 72 0.46 exonic rs1061769 ZNF283 AU nonsynonymous SNV NM_001297752 exon6 c.G1496A p.C499Y 0.38738 0.2401 0.366220 0.4017 0.2095 1 T 0.0 P -0.931 T 0.0 T 0.0 T Pathogenic 19_44352688_G->A 19 44352688 44352688 G A snp 1637.77 0/1 99 147 81 66 0.45 exonic rs2883946 ZNF283 AU synonymous SNV NM_001297752 exon6 c.G1518A p.E506E 0.38738 0.2401 0.412169 0.4015 0.2100 Uncertain 19_44376681_G->T 19 44376681 44376681 G T snp 1098.77 1/1 81 33 0 33 1.0 UTR3 rs1050054 ZNF404 AU 0.526358 0.8046 0.451578 0.5894 0.8349 Uncertain 19_44377357_C->T 19 44377357 44377357 C T snp 4396.77 1/1 99 160 0 160 1.0 exonic rs239942 ZNF404 AU nonsynonymous SNV NM_001033719 exon2 c.G1000A p.G334S 0.998602 0.994 0.9996 0.9951 1 T 0.0 P -0.956 T Pathogenic 19_44377669_G->A 19 44377669 44377669 G A snp 4636.77 1/1 99 153 0 153 1.0 exonic rs12977303 ZNF404 AU nonsynonymous SNV NM_001033719 exon2 c.C688T p.H230Y 0.389976 0.5536 0.376474 0.4746 0.5854 0 D 0.133 P -1.108 T 1.0 D 0.999 D Pathogenic 19_44387967_A->T 19 44387967 44387967 A T snp 256.8 1/1 21 8 0 8 1.0 intergenic rs239939 ZNF404 AU 0.683107 0.8065 Uncertain 19_44417575_A->G 19 44417575 44417575 A G snp 5912.77 1/1 99 216 0 216 1.0 exonic rs417699 ZNF45 AU synonymous SNV NM_003425 exon10 c.T2013C p.F671F 0.541534 0.8046 0.469014 0.5431 0.8235 Uncertain 19_44418077_C->T 19 44418077 44418077 C T snp 2362.77 1/1 99 85 1 84 0.99 exonic rs407731 ZNF45 AU nonsynonymous SNV NM_003425 exon10 c.G1511A p.R504K 0.52516 0.7996 0.456097 0.5279 0.8223 0.04 T 0.0 P -1.083 T 0.0 T 0.0 T Pathogenic 19_44418343_C->T 19 44418343 44418343 C T snp 3242.77 1/1 99 119 0 119 1.0 exonic rs406968 ZNF45 AU synonymous SNV NM_003425 exon10 c.G1245A p.P415P 0.52496 0.7996 0.456174 0.5275 0.8222 Uncertain 19_44418544_A->G 19 44418544 44418544 A G snp 4261.77 1/1 99 144 0 144 1.0 exonic rs425221 ZNF45 AU synonymous SNV NM_003425 exon10 c.T1044C p.N348N 0.525559 0.7996 0.456174 0.5282 0.8227 Uncertain 19_44418680_G->C 19 44418680 44418680 G C snp 4407.77 1/1 99 154 0 154 1.0 exonic rs388685 ZNF45 AU nonsynonymous SNV NM_003425 exon10 c.C908G p.P303R 0.414337 0.5486 0.407504 0.4789 0.5791 0.01 T 1.000 P -0.893 T 1.0 D 0.999 D Pathogenic 19_44418693_T->C 19 44418693 44418693 T C snp 4353.77 1/1 99 153 0 153 1.0 exonic rs388706 ZNF45 AU nonsynonymous SNV NM_003425 exon10 c.A895G p.T299A 0.525359 0.7996 0.455867 0.5272 0.8225 0.07 T 0.0 P -0.903 T 0.0 T 0.002 T Pathogenic 19_44418824_C->T 19 44418824 44418824 C T snp 4066.77 1/1 99 130 0 130 1.0 exonic rs399098 ZNF45 AU nonsynonymous SNV NM_003425 exon10 c.G764A p.R255K 0.414337 0.5486 0.407504 0.4790 0.5780 1 T 0.031 P -0.936 T 0.0 T 0.0 T Pathogenic 19_44419030_A->G 19 44419030 44419030 A G snp 7142.77 1/1 99 250 1 249 1.0 exonic rs420242 ZNF45 AU synonymous SNV NM_003425 exon10 c.T558C p.H186H 0.99401 1 0.993772 0.9984 1 Uncertain 19_44422802_G->C 19 44422802 44422802 G C snp 99.28 1/1 9 3 0 3 1.0 intronic rs424729 ZNF45 AU NM_003425 exon2 c.5483-219G>C 0.525559 0.7996 Uncertain 19_44422982_G->A 19 44422982 44422982 G A snp 2435.77 1/1 99 91 0 91 1.0 intronic rs423320 ZNF45 AU NM_003425 exon2 c.5483-39G>A 0.525359 0.7996 0.455790 0.5283 0.8207 Uncertain 19_44423195_G->A 19 44423195 44423195 G A snp 704.77 1/1 51 26 0 26 1.0 intronic rs423752 ZNF45 AU NM_003425 exon2 c.5576+81G>A 0.525359 0.7996 Uncertain 19_44423981_T->C 19 44423981 44423981 T C snp 1944.77 1/1 99 58 0 58 1.0 intronic rs384329 ZNF45 AU NM_003425 exon3 c.6313+130T>C 0.528554 0.7996 Uncertain 19_44426265_A->G 19 44426265 44426265 A G snp 892.77 1/1 66 31 0 31 1.0 intronic rs413093 ZNF45 AU NM_003425 exon4 c.8784-57A>G 0.528155 0.7996 0.456855 Uncertain 19_44426467_-->G 19 44426467 44426467 - G indel 955.75 1/1 23 26 2 24 0.92 intronic rs57712519 ZNF45 AU NM_003425 exon4 c.8831+98insG 0.500599 0.7996 Uncertain 19_44469577_T->G 19 44469577 44469577 T G snp 1703.77 1/1 99 51 0 51 1.0 intronic rs451601 ZNF221 AU NM_013359 exon5 c.2599+100T>G 0.943291 1 Uncertain 19_44469625_C->G 19 44469625 44469625 C G snp 126.03 1/1 12 4 0 4 1.0 intronic rs451612 ZNF221 AU NM_013359 exon5 c.2599+148C>G 0.943291 1 Uncertain 19_44470189_T->A 19 44470189 44470189 T A snp 6830.77 1/1 99 236 0 236 1.0 exonic rs454301 ZNF221 AU nonsynonymous SNV NM_001297588 exon5 c.T535A p.F179I 0.94369 1 0.939028 0.9827 1 0.04 T 0.0 P -0.989 T 0.664 T 0.116 P Pathogenic 19_44470420_T->C 19 44470420 44470420 T C snp 6659.77 1/1 99 231 0 231 1.0 exonic rs439676 ZNF221 AU nonsynonymous SNV NM_001297588 exon5 c.T766C p.C256R 0.845048 0.9841 0.851223 0.9331 0.9809 0.02 T 0.000 P -0.919 T 1.0 D 1.0 D Pathogenic 19_44470548_A->G 19 44470548 44470548 A G snp 7415.77 1/1 99 246 0 246 1.0 exonic rs453640 ZNF221 AU synonymous SNV NM_001297588 exon5 c.A894G p.Q298Q 0.961262 1 0.956251 0.9874 1 Uncertain 19_44470663_G->C 19 44470663 44470663 G C snp 8277.77 1/1 99 250 0 250 1.0 exonic rs435590 ZNF221 AU nonsynonymous SNV NM_001297588 exon5 c.G1009C p.A337P 0.958267 1 0.954713 0.9869 1 1 T 0.000 P -1.021 T 0.0 T 0.0 T Pathogenic 19_44471209_T->A 19 44471209 44471209 T A snp 1985.77 0/1 99 165 84 81 0.49 exonic rs365745 ZNF221 AU nonsynonymous SNV NM_001297588 exon5 c.T1555A p.S519T 0.736422 0.8452 0.753498 0.8242 0.8483 0.05 T 0.0 P -1.080 T 0.038 T 0.013 T Pathogenic 19_44471252_T->C 19 44471252 44471252 T C snp 2623.77 0/1 99 203 98 105 0.52 exonic rs61734609 ZNF221 AU nonsynonymous SNV NM_001297588 exon5 c.T1598C p.L533P 0.095647 0.1389 0.082270 0.1050 0.1334 1 T 0.886 P -0.932 T 0.0 T 0.001 T Pathogenic 19_44471323_G->A 19 44471323 44471323 G A snp 2122.77 0/1 99 180 89 91 0.51 exonic rs366111 ZNF221 AU nonsynonymous SNV NM_001297588 exon5 c.G1669A p.G557R 0.85024 0.8611 0.858373 0.8780 0.8672 0.03 T 0.000 P -1.073 T 0.0 T 0.0 T Pathogenic 19_44500478_A->T 19 44500478 44500478 A T snp 4150.77 1/1 99 140 0 140 1.0 exonic rs398235 ZNF155 AU nonsynonymous SNV NM_001260486 exon5 c.A469T p.I157F 0.977636 1 0.977395 0.9929 1 1 T 0.0 P -1.027 T 0.0 T 0.0 T Pathogenic 19_44500761_G->A 19 44500761 44500761 G A snp 7817.77 1/1 99 249 1 248 1.0 exonic rs448921 ZNF155 AU nonsynonymous SNV NM_001260486 exon5 c.G752A p.R251H 0.897364 0.9861 0.894741 0.9625 0.9812 0.16 T 0.0 P -1.054 T 0.001 T 0.002 T Pathogenic 19_44501116_A->G 19 44501116 44501116 A G snp 7550.77 1/1 99 250 0 250 1.0 exonic rs388812 ZNF155 AU synonymous SNV NM_001260486 exon5 c.A1107G p.E369E 0.90655 1 0.900969 0.9690 1 Uncertain 19_44501227_A->G 19 44501227 44501227 A G snp 6281.77 1/1 99 213 0 213 1.0 exonic rs388471 ZNF155 AU synonymous SNV NM_001260486 exon5 c.A1218G p.G406G 0.903554 1 0.896509 0.9681 1 Uncertain 19_44501627_T->C 19 44501627 44501627 T C snp 1299.77 1/1 96 32 0 32 1.0 ncRNA_exonic rs35292176 LOC101928063 AU 0.497604 0.3948 0.591294 0.6343 0.4245 Uncertain 19_44503379_C->T 19 44503379 44503379 C T snp 1474.77 1/1 99 52 0 52 1.0 ncRNA_exonic rs452554 LOC101928063 AU 0.927117 1 0.926578 0.9775 1 Uncertain 19_44503542_A->- 19 44503542 44503542 A - indel 1745.73 1/1 99 44 0 44 1.0 ncRNA_intronic rs11314755 LOC101928063 AU 0.927316 1 Uncertain 19_44503569_G->A 19 44503569 44503569 G A snp 772.77 1/1 57 25 0 25 1.0 ncRNA_intronic rs7252394 LOC101928063 AU 0.432508 0.2917 Uncertain 19_44503607_T->C 19 44503607 44503607 T C snp 389.77 1/1 30 10 0 10 1.0 ncRNA_intronic rs7253205 LOC101928063 AU 0.498403 0.2927 Uncertain 19_44511202_A->T 19 44511202 44511202 A T snp 4694.77 1/1 99 166 0 166 1.0 UTR5 rs2356549 ZNF230 AU 0.529952 0.2917 0.646548 0.6203 0.3009 Uncertain 19_44511223_T->G 19 44511223 44511223 T G snp 5347.77 1/1 99 189 0 189 1.0 UTR5 rs424147 ZNF230 AU 0.971845 1 0.965093 0.9883 1 Uncertain 19_44511389_G->T 19 44511389 44511389 G T snp 2967.77 1/1 99 98 0 98 1.0 intronic rs2191566 ZNF230 AU NM_006300 exon2 c.15+144G>T 0.521965 0.2897 Uncertain 19_44530390_T->C 19 44530390 44530390 T C snp 3823.77 1/1 99 130 0 130 1.0 intronic rs8101750 ZNF222 AU NM_013360 exon2 c.15+152T>C 1 1 Uncertain 19_44530445_AC->- 19 44530445 44530446 AC - indel 1975.73 1/1 99 45 0 45 1.0 intronic rs3830527 ZNF222 AU NM_013360 exon2 c.15+207_15+208delAC 0.41254 0.2907 Uncertain 19_44535999_G->T 19 44535999 44535999 G T snp 5706.77 1/1 99 190 0 190 1.0 exonic rs7258517 ZNF222 AU nonsynonymous SNV NM_001129996 exon4 c.G292T p.V98F 0.416134 0.2897 0.543518 0.5837 0.2984 0.72 T 0.0 P -1.032 T 0.043 T 0.033 T Pathogenic 19_44564401_T->C 19 44564401 44564401 T C snp 1824.77 1/1 99 67 0 67 1.0 intronic rs12610472 ZNF223 AU NM_013361 exon3 c.5278-206T>C 0.730431 0.5655 Uncertain 19_44564981_G->A 19 44564981 44564981 G A snp 6943.77 1/1 99 249 1 248 1.0 exonic rs3826941 ZNF223 AU synonymous SNV NM_013361 exon4 c.G222A p.R74R 0.730631 0.5655 0.813317 0.8052 0.5449 Uncertain 19_44565125_A->G 19 44565125 44565125 A G snp 2870.77 1/1 99 91 1 90 0.99 intronic rs4502339 ZNF223 AU NM_013361 exon4 c.5665+131A>G 0.995607 1 Uncertain 19_44570393_C->A 19 44570393 44570393 C A snp 4522.77 1/1 99 161 0 161 1.0 exonic rs6509138 ZNF223 AU nonsynonymous SNV NM_013361 exon5 c.C412A p.L138I 0.401558 0.2996 0.504690 0.5465 0.3074 0.19 T 0.0 P -1.058 T 0.182 T 0.04 T Pathogenic 19_44570551_G->A 19 44570551 44570551 G A snp 2857.77 1/1 99 94 0 94 1.0 exonic rs4375771 ZNF223 AU synonymous SNV NM_013361 exon5 c.G570A p.A190A 0.773962 0.5655 0.856220 0.8170 0.5454 Uncertain 19_44571154_T->C 19 44571154 44571154 T C snp 4814.77 1/1 99 181 2 179 0.99 exonic rs4433920 ZNF223 AU synonymous SNV NM_013361 exon5 c.T1173C p.H391H 0.414337 0.3006 0.529832 0.5745 0.3082 Uncertain 19_44580441_T->- 19 44580441 44580441 T - indel 989.73 1/1 92 58 8 50 0.86 intronic rs201907991 ZNF284 AU 0.3847 0.4333 Uncertain 19_44580758_T->C 19 44580758 44580758 T C snp 832.77 1/1 63 25 0 25 1.0 intronic rs57895932 ZNF284 AU NM_001037813 exon2 c.15+201T>C 0.700479 0.5635 Uncertain 19_44585159_T->A 19 44585159 44585159 T A snp 2775.77 1/1 99 83 0 83 1.0 intronic rs4803674 ZNF284 AU NM_001037813 exon3 c.4625-8T>A 0.766573 0.6012 0.845533 0.8238 0.5886 Uncertain 19_44586076_T->C 19 44586076 44586076 T C snp 2941.77 1/1 99 108 0 108 1.0 intronic rs4553729 ZNF284 AU NM_001037813 exon4 c.5623-89T>C 0.995607 1 Uncertain 19_44590000_CTC->- 19 44590000 44590002 CTC - indel 11562.7 1/1 99 198 0 198 1.0 exonic rs139900131 ZNF284 AU nonframeshift deletion NM_001037813 exon5 c.369_371del p.123_124del 0.450879 0.3313 0.552686 0.5727 0.3350 Uncertain 19_44590558_C->T 19 44590558 44590558 C T snp 5080.77 1/1 99 166 4 162 0.98 exonic rs7255701 ZNF284 AU synonymous SNV NM_001037813 exon5 c.C927T p.H309H 0.435304 0.2986 0.547437 0.5677 0.3112 Uncertain 19_44591360_G->A 19 44591360 44591360 G A snp 1762.77 1/1 99 56 0 56 1.0 exonic rs8113249 ZNF284 AU nonsynonymous SNV NM_001037813 exon5 c.G1729A p.E577K 0.760383 0.6131 0.846681 0.7881 0.6094 0.32 T 0.0 P -1.083 T 0.0 T 0.0 T Pathogenic 19_44604914_T->C 19 44604914 44604914 T C snp 2048.77 0/1 99 143 60 83 0.58 intronic rs62115526 ZNF224 AU NM_013398 exon4 c.2927-39T>C 0.544329 0.5238 0.657004 0.6975 0.5340 Uncertain 19_44605123_G->A 19 44605123 44605123 G A snp 648.77 0/1 99 40 17 23 0.57 intronic rs4803676 ZNF224 AU NM_013398 exon4 c.3054+43G>A 0.803914 0.6081 0.878287 0.8274 0.5980 Uncertain 19_44610665_A->G 19 44610665 44610665 A G snp 3200.06 0/1 99 249 119 130 0.52 exonic rs2068061 ZNF224 AU nonsynonymous SNV NM_013398 exon6 c.A352G p.M118V 0.788938 0.5942 0.868830 0.8237 0.5816 0.57 T 0.0 P -1.049 T 0.0 T 0.0 T Pathogenic 19_44610798_A->T 19 44610798 44610798 A T snp 2727.77 0/1 99 248 136 112 0.45 exonic rs4239529 ZNF224 AU nonsynonymous SNV NM_013398 exon6 c.A485T p.H162L 0.800919 0.6151 0.876672 0.8288 0.6051 0.67 T 0.0 P -1.002 T 0.0 T 0.0 T Pathogenic 19_44611066_T->C 19 44611066 44611066 T C snp 2928.77 0/1 99 250 137 113 0.45 exonic rs7508149 ZNF224 AU synonymous SNV NM_013398 exon6 c.T753C p.H251H 0.659545 0.5317 0.779948 0.7623 0.5388 Uncertain 19_44611420_A->G 19 44611420 44611420 A G snp 2932.77 0/1 99 250 130 120 0.48 exonic rs4508518 ZNF224 AU synonymous SNV NM_013398 exon6 c.A1107G p.E369E 0.644169 0.5308 0.764340 0.7302 0.5379 Uncertain 19_44612005_A->G 19 44612005 44612005 A G snp 1821.77 0/1 99 146 82 64 0.44 exonic rs3746321 ZNF224 AU synonymous SNV NM_013398 exon6 c.A1692G p.G564G 0.584864 0.5357 0.695679 0.7105 0.5421 Uncertain 19_44612014_A->T 19 44612014 44612014 A T snp 1876.77 0/1 99 140 76 64 0.46 exonic rs3200505 ZNF224 AU synonymous SNV NM_013398 exon6 c.A1701T p.P567P 0.585463 0.5367 0.695816 0.7107 0.5428 Uncertain 19_44612231_A->G 19 44612231 44612231 A G snp 1443.77 0/1 99 137 79 58 0.42 exonic rs3746319 ZNF224 AU nonsynonymous SNV NM_013398 exon6 c.A1918G p.K640E 0.601238 0.5357 0.713824 0.7154 0.5432 0.38 T 0.0 P -1.038 T 0.03 T 0.021 T ID=CM108916;DIS=Neuropathology and cognition in Alzheimer disease, association;TAG=DP;PUB=20574532 DP Pathogenic 19_44634903_A->G 19 44634903 44634903 A G snp 590.77 0/1 99 32 14 18 0.56 intronic rs10413195 ZNF225 AU NM_013362 exon5 c.15022-99A>G 0.685903 0.504 Uncertain 19_44652748_C->T 19 44652748 44652748 C T snp 1579.77 0/1 99 109 49 60 0.55 intronic rs3817595 ZNF234 AU NM_006630 exon4 c.4138-175C>T 0.323083 0.4008 Uncertain 19_44652954_G->A 19 44652954 44652954 G A snp 2998.77 0/1 99 248 127 121 0.49 exonic rs2293587 ZNF234 AU nonsynonymous SNV NM_001144824 exon4 c.G46A p.V16I 0.322284 0.4008 0.327310 0.3399 0.4159 0.21 T 0.000 P -0.974 T 0.183 T 0.096 T Pathogenic 19_44660967_A->G 19 44660967 44660967 A G snp 6634.77 1/1 99 250 0 250 1.0 exonic rs12609635 ZNF234 AU synonymous SNV NM_001144824 exon6 c.A798G p.G266G 0.569289 0.4931 0.527756 0.4493 0.4905 Uncertain 19_44662274_-->AA 19 44662274 44662274 - AA indel 515.73 ./1 99 33 0 33 1.0 UTR3 rs35483237 ZNF234 AU 0.198482 0.1131 0.1600 0.1447 Uncertain 19_44662274_-->A 19 44662274 44662274 - A indel 515.73 ./1 99 33 0 33 1.0 UTR3 rs35483237 ZNF234 AU 0.420327 0.4048 0.4420 0.4287 Uncertain 19_44663805_G->A 19 44663805 44663805 G A snp 961.77 1/1 69 38 0 38 1.0 UTR3 rs62117771 ZNF234 AU 0.56869 0.4931 0.513282 0.4624 0.4915 Uncertain 19_44676148_G->C 19 44676148 44676148 G C snp 1497.77 0/1 99 118 60 58 0.49 intronic rs2232801 ZNF226 AU NM_015919 exon4 c.2007-92G>C 0.64996 0.6032 Uncertain 19_44678906_T->C 19 44678906 44678906 T C snp 146.77 0/1 99 14 9 5 0.36 intronic rs7260367 ZNF226 AU NM_015919 exon6 c.4903-230T>C 0.175919 0.0952 Uncertain 19_44680489_G->A 19 44680489 44680489 G A snp 2770.77 0/1 99 244 121 123 0.5 exonic rs2178342 ZNF226 AU synonymous SNV NM_001032372 exon6 c.G1074A p.T358T 0.175519 0.0952 0.142010 0.0735 0.0734 Uncertain 19_44721699_C->T 19 44721699 44721699 C T snp 2164.77 0/1 99 238 142 96 0.4 intronic rs9304640 ZNF227 AU 0.646965 0.6062 0.6260 0.6268 Uncertain 19_44722059_A->T 19 44722059 44722059 A T snp 872.77 0/1 99 74 36 38 0.51 intronic rs7254458 ZNF227 AU NM_001289166 exon3 c.60+54A>T 0.175719 0.1052 0.137976 Uncertain 19_44732658_C->G 19 44732658 44732658 C G snp 1146.77 0/1 99 86 39 47 0.55 exonic rs922063 ZNF227 AU synonymous SNV NM_001289166 exon4 c.C120G p.L40L 0.203275 0.1052 0.170921 0.0848 0.0830 Uncertain 19_44732835_A->G 19 44732835 44732835 A G snp 693.77 0/1 99 57 31 26 0.46 intronic rs922064 ZNF227 AU NM_001289171 exon3 c.34+110A>G 0.175719 0.1052 0.0788 0.0835 Uncertain 19_44739399_T->C 19 44739399 44739399 T C snp 2720.77 0/1 99 213 101 112 0.53 exonic rs2279072 ZNF227 AU synonymous SNV NM_001289170 exon4 c.T579C p.H193H 0.635583 0.5327 0.612563 0.5978 0.5109 Uncertain 19_44740602_G->A 19 44740602 44740602 G A snp 967.77 0/1 99 82 44 38 0.46 exonic rs3810137 ZNF227 AU synonymous SNV NM_001289170 exon4 c.G1782A p.S594S 0.174121 0.1012 0.142703 0.0745 0.0829 Uncertain 19_44764064_A->G 19 44764064 44764064 A G snp 2378.77 0/1 99 204 102 102 0.5 upstream rs1233444 ZNF233 AU 0.761981 0.7639 0.7615 0.7525 Uncertain 19_44778405_A->C 19 44778405 44778405 A C snp 1124.77 0/1 99 84 38 46 0.55 exonic rs1233428 ZNF233 AU nonsynonymous SNV NM_181756 exon5 c.A1592C p.K531T 0.754193 0.7768 0.712210 0.7131 0.7545 1 T 0.0 P -1.007 T 0.0 T 0.0 T Pathogenic 19_44778797_T->A 19 44778797 44778797 T A snp 316.77 0/1 99 53 41 12 0.23 exonic rs2884015 ZNF233 AU nonsynonymous SNV NM_181756 exon5 c.T1984A p.L662M 0.318291 0.2579 0.1984 0.2313 0.24 T 1 N -1.020 T 0.824 T 0.665 P Pathogenic 19_44778799_G->A 19 44778799 44778799 G A snp 283.77 0/1 99 48 36 12 0.25 exonic rs2884016 ZNF233 AU synonymous SNV NM_181756 exon5 c.G1986A p.L662L 0.190495 0.2579 0.1554 0.2311 1.000 N Uncertain 19_44792969_G->A 19 44792969 44792969 G A snp 971.77 0/1 99 78 37 41 0.53 exonic rs2609908 ZNF235 AU synonymous SNV NM_004234 exon5 c.C619T p.L207L 0.757987 0.7778 0.713440 0.7152 0.7544 Uncertain 19_44815818_C->T 19 44815818 44815818 C T snp 487.77 0/1 99 51 27 24 0.47 intergenic rs78712006 ZNF235 AU 0.0485224 0.1032 0 0 Uncertain 19_44831989_T->G 19 44831989 44831989 T G snp 2820.77 0/1 99 208 102 106 0.51 exonic rs2609881 ZNF112 AU nonsynonymous SNV NM_013380 exon4 c.A2321C p.E774A 0.255391 0.1855 0.227203 0.1756 0.1575 0.52 T 0.0 P -0.925 T 0.006 T 0.007 T Pathogenic 19_44832684_T->G 19 44832684 44832684 T G snp 2848.77 0/1 99 250 134 116 0.46 exonic rs2609880 ZNF112 AU synonymous SNV NM_013380 exon4 c.A1626C p.T542T 0.65655 0.7629 0.614793 0.6524 0.7440 Uncertain 19_44832875_A->G 19 44832875 44832875 A G snp 3515.77 0/1 99 246 103 143 0.58 exonic rs2722722 ZNF112 AU nonsynonymous SNV NM_013380 exon4 c.T1435C p.Y479H 0.65655 0.7629 0.614870 0.6525 0.7446 0.57 T 0.0 P -1.054 T 0.004 T 0.004 T Pathogenic 19_44832992_C->G 19 44832992 44832992 C G snp 2454.77 0/1 99 198 96 102 0.52 exonic rs2722723 ZNF112 AU nonsynonymous SNV NM_013380 exon4 c.G1318C p.E440Q 0.65655 0.7629 0.614793 0.6525 0.7439 0.4 T 0.0 P -0.983 T 0.01 T 0.005 T Pathogenic 19_44833506_C->T 19 44833506 44833506 C T snp 2447.77 0/1 99 223 116 107 0.48 exonic rs4325673 ZNF112 AU synonymous SNV NM_013380 exon4 c.G804A p.E268E 0.749002 0.7649 0.708519 0.7161 0.7444 Uncertain 19_44833851_G->C 19 44833851 44833851 G C snp 1871.77 0/1 99 136 59 77 0.57 exonic rs4280359 ZNF112 AU nonsynonymous SNV NM_013380 exon4 c.C459G p.F153L 0.770367 0.7649 0.733851 0.7230 0.7443 0.72 T 0.0 P -1.054 T 0.0 T 0.0 T Pathogenic 19_44840789_T->C 19 44840789 44840789 T C snp 975.77 0/1 99 90 46 44 0.49 exonic rs2571104 ZNF112 AU synonymous SNV NM_013380 exon3 c.A207G p.R69R 0.65655 0.7629 0.615101 0.6526 0.7439 Uncertain 19_44847615_C->A 19 44847615 44847615 C A snp 205.77 0/1 99 23 14 9 0.39 intronic rs984116 ZNF112 AU NM_001083335 exon4 c.15869+161C>A 0.238818 0.1825 Uncertain 19_44871287_T->C 19 44871287 44871287 T C snp 2196.77 1/1 99 80 0 80 1.0 intergenic rs8113807 ZNF112 AU 0.40655 0.2599 0.3101 0.2246 Uncertain 19_44871293_T->C 19 44871293 44871293 T C snp 2193.77 1/1 99 79 0 79 1.0 intergenic rs2571074 ZNF112 AU 0.491613 0.4315 0.3750 0.3333 Uncertain 19_44890848_C->T 19 44890848 44890848 C T snp 3004.77 0/1 99 237 114 123 0.52 exonic rs138001522 ZNF285 AU nonsynonymous SNV NM_001291491 exon3 c.G1094A p.G365D 0.00199681 0.006 0.001307 0.0012 0.0058 0.02 T 0.969 N -1.058 T 0.984 D 0.77 D Pathogenic 19_44891784_T->C 19 44891784 44891784 T C snp 2221.77 0/1 99 189 95 94 0.5 exonic rs2571089 ZNF285 AU nonsynonymous SNV NM_001291491 exon3 c.A158G p.N53S 0.709065 0.6865 0.822543 0.8262 0.6443 0.15 T 0.0 P -1.063 T 0.008 T 0.004 T Pathogenic 19_44892333_A->T 19 44892333 44892333 A T snp 1305.77 0/1 99 83 33 50 0.6 intronic rs2571090 ZNF285 AU NM_001291489 exon1 c.1631+69A>T 0.59984 0.6835 Uncertain 19_44934489_G->A 19 44934489 44934489 G A snp 4158.77 1/1 99 132 0 132 1.0 exonic rs2571174 ZNF229 AU nonsynonymous SNV NM_001278510 exon6 c.C449T p.S150F 0.88778 0.7024 0.920077 0.8929 0.7179 0.42 T 0.0 P -1.042 T 0.0 T 0.0 T Pathogenic 19_44947197_T->C 19 44947197 44947197 T C snp 146.77 0/1 99 10 5 5 0.5 UTR5 rs204546 ZNF229 AU 0.0265575 0.0069 Uncertain 19_44976390_G->C 19 44976390 44976390 G C snp 1049.77 0/1 99 102 60 42 0.41 intergenic rs10421647 ZNF229 AU 0.0615016 0.0704 Uncertain 19_44976914_G->A 19 44976914 44976914 G A snp 723.77 0/1 99 54 30 24 0.44 intergenic rs4297799 ZNF229 AU 0.0840655 0.0694 Uncertain 19_44977071_C->T 19 44977071 44977071 C T snp 2409.77 0/1 99 201 101 100 0.5 intergenic rs1897824 ZNF229 AU 0.298323 0.0724 Uncertain 19_44977240_A->G 19 44977240 44977240 A G snp 2303.77 0/1 99 159 67 92 0.58 intergenic rs1897823 ZNF229 AU 0.434505 0.4335 Uncertain 19_44977382_C->T 19 44977382 44977382 C T snp 2385.77 0/1 99 171 78 93 0.54 intergenic rs1897822 ZNF229 AU 0.261981 0.0813 Uncertain 19_44977394_C->A 19 44977394 44977394 C A snp 1909.77 0/1 99 141 68 73 0.52 intergenic rs56787156 ZNF229 AU 0.0722843 0.0804 Uncertain 19_44981516_C->T 19 44981516 44981516 C T snp 808.77 0/1 99 63 30 33 0.52 exonic rs16979130 ZNF180 AU synonymous SNV NM_001278508 exon4 c.G1107A p.S369S 0.0638978 0.0794 0.040289 0.0305 0.1084 Uncertain 19_44981800_T->C 19 44981800 44981800 T C snp 1679.77 0/1 99 135 70 65 0.48 exonic rs73036497 ZNF180 AU nonsynonymous SNV NM_001278508 exon4 c.A823G p.T275A 0.0171725 0.0089 0.017149 0.0114 0.0079 0.03 T 0.999 N -0.951 T 0.001 T 0.003 T Pathogenic 19_44981832_T->C 19 44981832 44981832 T C snp 1556.77 0/1 99 130 67 63 0.48 exonic rs73036500 ZNF180 AU nonsynonymous SNV NM_001278508 exon4 c.A791G p.H264R 0.0265575 0.0099 0.026457 0.0142 0.0079 0.36 T 0.998 N -0.975 T 0.001 T 0.008 T Pathogenic 19_44981883_C->G 19 44981883 44981883 C G snp 1227.77 0/1 99 116 65 51 0.44 exonic rs1897820 ZNF180 AU nonsynonymous SNV NM_001278508 exon4 c.G740C p.C247S 0.434505 0.4177 0.485002 0.4224 0.4427 0.2 T 0.000 P -1.037 T 0.0 T 0.0 T Pathogenic 19_44982381_A->G 19 44982381 44982381 A G snp 605.77 0/1 99 49 29 20 0.41 intronic rs16979134 ZNF180 AU NM_001278508 exon1 c.1745+18A>G 0.0638978 0.0794 0.038712 0.0339 0.1156 Uncertain 19_44983567_C->G 19 44983567 44983567 C G snp 1766.77 1/1 99 63 0 63 1.0 exonic rs2253563 ZNF180 AU nonsynonymous SNV NM_001278508 exon3 c.G192C p.W64C 0.453874 0.4395 0.503460 0.4347 0.4585 0.01 T 1.0 P -1.097 T 0.945 T 0.669 D Pathogenic 19_44983729_G->- 19 44983729 44983729 G - indel 672.73 1/1 54 19 0 19 1.0 intronic rs35167767 ZNF180 AU NM_001278508 exon2 c.3008+103delG 0.454673 0.4395 Uncertain 19_44988456_G->A 19 44988456 44988456 G A snp 56.74 1/1 6 2 0 2 1.0 intronic rs113364064 ZNF180 AU NM_001278509 exon3 c.7953-115G>A 0.0175719 0.0089 Uncertain 19_44988716_G->A 19 44988716 44988716 G A snp 1417.77 0/1 99 111 49 62 0.56 intronic rs3745148 ZNF180 AU NM_001278509 exon3 c.8028+70G>A 0.0880591 0.1052 Uncertain 19_45004042_T->C 19 45004042 45004042 T C snp 206.77 0/1 99 20 13 7 0.35 intronic rs12459496 ZNF180 AU NM_001278508 exon4 c.23631-207T>C 0.349042 0.3929 Uncertain 19_45004305_G->C 19 45004305 45004305 G C snp 2379.77 0/1 99 194 95 99 0.51 UTR5 rs12977470 ZNF180 AU 0.347644 0.3929 0.371136 0.4268 0.3568 Uncertain 19_45010056_G->A 19 45010056 45010056 G A snp 74.77 0/1 99 8 5 3 0.38 downstream rs13345032 CEACAM20 AU 0.13119 0.0675 Uncertain 19_45014893_T->C 19 45014893 45014893 T C snp 38.77 0/1 67 5 3 2 0.4 intronic rs10422776 CEACAM20 AU NM_001102599 exon2 c.4875-194T>C 0.413938 0.3899 Uncertain 19_45015020_T->C 19 45015020 45015020 T C snp 1418.77 0/1 99 113 56 57 0.5 intronic rs17800789 CEACAM20 AU NM_001102599 exon2 c.4875-67T>C 0.139177 0.2093 Uncertain 19_45015596_T->G 19 45015596 45015596 T G snp 1528.77 0/1 99 120 52 68 0.57 intronic rs1004605 CEACAM20 AU NM_001102599 exon3 c.5482-98T>G 0.408147 0.3899 Uncertain 19_45016116_A->G 19 45016116 45016116 A G snp 689.77 0/1 99 79 46 33 0.42 exonic rs8100718 CEACAM20 AU nonsynonymous SNV NM_001102598 exon9 c.T1255C p.C419R 0.384385 0.3919 0.413343 0.4841 0.3937 Pathogenic 19_45016991_T->- 19 45016991 45016991 T - indel 4699.73 1/1 99 114 0 114 1.0 splicing rs398034748 CEACAM20 AU NM_001102599 exon6 c.6779delT 1 1 0.999829 1 1 Pathogenic 19_45017249_T->C 19 45017249 45017249 T C snp 1071.77 0/1 99 79 37 42 0.53 exonic rs1465723 CEACAM20 AU nonsynonymous SNV NM_001102598 exon6 c.A1130G p.Y377C 0.116613 0.0645 0.170088 0.1846 0.0940 Pathogenic 19_45017478_A->- 19 45017478 45017478 A - indel 1065.73 1/1 78 30 0 30 1.0 intronic rs10706694 CEACAM20 AU NM_001102599 exon7 c.7136+130delA 1 1 Uncertain 19_45021252_G->A 19 45021252 45021252 G A snp 2999.77 0/1 99 250 120 130 0.52 exonic rs16959164 CEACAM20 AU nonsynonymous SNV NM_001102597 exon6 c.C1064T p.S355L 0.0469249 0.0585 0.027578 0.0383 0.0892 Pathogenic 19_45024875_T->C 19 45024875 45024875 T C snp 1668.77 1/1 99 53 0 53 1.0 intronic rs12975863 CEACAM20 AU NM_001102599 exon8 c.14574+89T>C 0.898962 0.6746 Uncertain 19_45024879_-->GT 19 45024879 45024879 - GT indel 375.73 0/1 99 46 17 29 0.63 intronic rs144346131 CEACAM20 AU NM_001102599 exon8 c.14574+93insGT Uncertain 19_45026615_T->C 19 45026615 45026615 T C snp 113.77 0/1 99 9 5 4 0.44 intronic rs16979226 CEACAM20 AU NM_001102599 exon9 c.16450-47T>C 0.0537141 0.0615 0.031721 0.0479 0.0970 Uncertain 19_45033379_-->CA 19 45033379 45033379 - CA indel 915.73 0/1 99 39 10 29 0.74 intronic CEACAM20 AU NM_001102599 exon12 c.23268-101insCA Uncertain 19_45033485_A->G 19 45033485 45033485 A G snp 869.77 0/1 99 142 96 46 0.32 exonic rs62116895 CEACAM20 AU synonymous SNV NM_001102597 exon1 c.T48C p.L16L 0.213059 0.1587 0.190872 0.1447 0.1756 Uncertain 19_45121424_G->A 19 45121424 45121424 G A snp 1837.77 0/1 99 142 62 80 0.56 intronic rs10412507 IGSF23 AU NM_001205280 exon1 c.125+4344G>A 0.497804 0.3145 0.5331 0.3224 0.000 P -0.912 T Uncertain 19_45126994_A->G 19 45126994 45126994 A G snp 2597.77 0/1 99 241 132 109 0.45 intronic rs846857 IGSF23 AU NM_001205280 exon2 c.10048-9A>G 0.807708 0.63 0.8157 0.5968 Uncertain 19_45138649_TCTC->- 19 45138649 45138652 TCTC - indel 1048.73 1/1 57 19 0 19 1.0 intronic rs138387848 IGSF23 AU NM_001205280 exon4 c.21745-51_21745-48delTCTC Uncertain 19_45138674_C->T 19 45138674 45138674 C T snp 664.79 1/1 23 26 1 25 0.96 intronic rs66807970 IGSF23 AU NM_001205280 exon4 c.21745-26C>T 0.0029 0 Uncertain 19_45147340_G->T 19 45147340 45147340 G T snp 574.77 0/1 99 29 7 22 0.76 UTR5 rs11540084 PVR AU 0.276158 0.3393 Uncertain 19_45147518_-->A 19 45147518 45147518 - A indel 3684.73 1/1 99 82 0 82 1.0 intronic rs5828211 PVR AU NM_001135768 exon1 c.79+43insA 1 1 0.999714 1 1 Uncertain 19_45147542_T->C 19 45147542 45147542 T C snp 1717.77 1/1 99 63 0 63 1.0 intronic rs439446 PVR AU NM_001135768 exon1 c.79+67T>C 1 1 Uncertain 19_45147577_G->- 19 45147577 45147577 G - indel 1503.73 1/1 99 38 0 38 1.0 intronic rs5828212 PVR AU NM_001135768 exon1 c.79+102delG 1 1 Uncertain 19_45150433_G->A 19 45150433 45150433 G A snp 183.77 0/1 99 11 5 6 0.55 intronic rs2272020 PVR AU NM_001135768 exon2 c.3098-61G>A 0.101637 0.127 Uncertain 19_45150614_G->A 19 45150614 45150614 G A snp 2768.77 0/1 99 247 123 124 0.5 exonic rs1058402 PVR AU nonsynonymous SNV NM_006505 exon2 c.G199A p.A67T 0.102236 0.126 0.053129 0.0900 0.1353 1 T 0.000 P -1.097 T 0.0 T 0.008 T ID=CM095256;DIS=Paralytic poliomyelitis, association with;TAG=DP;PUB=19319949 DP Pathogenic 19_45157113_-->G 19 45157113 45157113 - G indel 11211.7 1/1 99 249 0 249 1.0 intronic rs71171278 PVR AU NM_001135768 exon4 c.9772-55insG Uncertain 19_45160896_T->C 19 45160896 45160896 T C snp 139.03 1/1 12 4 0 4 1.0 intronic rs10410651 PVR AU NM_001135768 exon5 c.13633-133T>C 0.473642 0.4663 Uncertain 19_45162038_A->G 19 45162038 45162038 A G snp 2946.77 1/1 99 104 0 104 1.0 exonic rs203710 PVR AU nonsynonymous SNV NM_006505 exon6 c.A1020G p.I340M 0.992013 1 0.982316 0.9862 1 0.13 T 0.0 P -0.911 T 0.0 T 0.001 T Pathogenic 19_45162189_C->A 19 45162189 45162189 C A snp 579.77 0/1 99 35 16 19 0.54 intronic rs35385129 PVR AU NM_006505 exon6 c.14772+21C>A 0.165136 0.3393 0.134476 0.1688 0.3670 0.0 P -1.102 T 0.065 T 0.019 T Uncertain 19_45202640_G->T 19 45202640 45202640 G T snp 1077.77 0/1 99 91 45 46 0.51 intronic rs2119660 CEACAM16 AD 0.102835 0.0228 0.098799 0.0953 0.0267 0.03 T 0.0 P -1.044 T 0.0 T 0.0 T Uncertain 19_45202652_C->T 19 45202652 45202652 C T snp 1031.77 0/1 99 80 39 41 0.51 intronic rs3948201 CEACAM16 AD 0.0319489 0.0228 0.024707 0.0449 0.0253 0.47 T 1.000 N -1.044 T 0.903 T 0.1 P Uncertain 19_45203837_G->C 19 45203837 45203837 G C snp 65.77 0/1 94 13 9 4 0.31 intronic rs2919848 CEACAM16 AD 0.535343 0.3829 Uncertain 19_45206532_G->A 19 45206532 45206532 G A snp 383.77 0/1 99 45 28 17 0.38 intronic rs2965167 CEACAM16 AD NM_001039213 exon3 c.1892-86G>A 0.676118 0.63 Uncertain 19_45296832_A->G 19 45296832 45296832 A G snp 979.77 0/1 99 98 51 47 0.48 exonic rs61750955 CBLC AU synonymous SNV NM_012116 exon8 c.A1239G p.S413S 0.151558 0.0982 0.139320 0.0933 0.1047 Uncertain 19_45296846_-->C 19 45296846 45296846 - C indel 1516.73 0/1 99 94 47 47 0.5 exonic rs66944506 CBLC AU frameshift insertion NM_012116 exon8 c.1254dupC p.D418fs 0.0866613 0.0962 0.064297 0.0411 0.1040 ID=COSM1394499;OCCURENCE=1(large_intestine) Pathogenic 19_45296969_A->G 19 45296969 45296969 A G snp 55.77 0/1 84 9 6 3 0.33 intronic CBLC AU NM_012116 exon8 c.15689+92A>G Uncertain 19_45296971_A->G 19 45296971 45296971 A G snp 31.77 0/1 60 9 6 3 0.33 intronic CBLC AU NM_012116 exon8 c.15689+94A>G Uncertain 19_45296979_C->T 19 45296979 45296979 C T snp 58.77 0/1 87 8 5 3 0.38 intronic CBLC AU NM_012116 exon8 c.15689+102C>T Uncertain 19_45297450_-->G 19 45297450 45297450 - G indel 1019.73 0/1 99 78 49 29 0.37 intronic rs34259391 CBLC AU NM_012116 exon9 c.16272-10insG 0.0201677 0.0645 0.0107 0.0577 Uncertain 19_45297454_A->C 19 45297454 45297454 A C snp 603.77 0/1 99 76 48 28 0.37 intronic rs1903831 CBLC AU NM_012116 exon9 c.16272-6A>C 0.141374 0.0863 0.0731 0.0742 Uncertain 19_45303578_G->C 19 45303578 45303578 G C snp 870.77 0/1 99 78 40 38 0.49 intronic rs748913 CBLC AU NM_012116 exon10 c.22449-59G>C 0.0690895 0.1161 0.032852 Uncertain 19_45315539_G->A 19 45315539 45315539 G A snp 2954.77 0/1 99 232 99 133 0.57 exonic rs3745159 BCAM AU,AR synonymous SNV NM_005581 exon3 c.G324A p.G108G 0.0547125 0.1151 0.020766 0.0235 0.1163 Uncertain 19_45315694_G->T 19 45315694 45315694 G T snp 2681.77 0/1 99 249 130 119 0.48 intronic rs12609306 BCAM AU,AR NM_005581 exon4 c.3353-40G>T 0.0547125 0.1151 0.020760 0.0229 0.1150 Uncertain 19_45316372_T->C 19 45316372 45316372 T C snp 205.84 1/1 18 6 0 6 1.0 intronic rs2927475 BCAM AU,AR NM_005581 exon5 c.4125-134T>C 0.996006 0.999 Uncertain 19_45316408_G->T 19 45316408 45316408 G T snp 197.77 0/1 99 26 16 10 0.38 intronic rs936517 BCAM AU,AR NM_005581 exon5 c.4125-98G>T 0.0555112 0.2133 Uncertain 19_45377334_G->A 19 45377334 45377334 G A snp 990.77 1/1 75 29 0 29 1.0 intronic rs393584 PVRL2 AU NM_001042724 exon4 c.27508+44G>A 0.460064 0.6736 0.352661 0.3823 0.6941 Uncertain 19_45382034_A->G 19 45382034 45382034 A G snp 341.78 1/1 27 9 0 9 1.0 intronic rs6859 PVRL2 AU NM_002856 exon6 c.32416-164A>G 0.633586 0.6915 Uncertain 19_45389224_A->G 19 45389224 45389224 A G snp 6268.77 1/1 99 228 0 228 1.0 exonic rs283814 PVRL2 AU synonymous SNV NM_001042724 exon7 c.A1227G p.P409P 0.970847 1 0.945194 0.9503 0.9999 Uncertain 19_45430280_C->G 19 45430280 45430280 C G snp 643.77 0/1 99 73 43 30 0.41 ncRNA_exonic rs5112 APOC1P1 AU 0.577476 0.6756 Uncertain 19_45448036_T->C 19 45448036 45448036 T C snp 442.77 0/1 99 44 25 19 0.43 exonic rs1132899 APOC4 AU nonsynonymous SNV NM_001646 exon2 c.T107C p.L36P 0.664337 0.7262 0.581667 0.5921 0.6917 0.2 T 0.0 P -1.000 T 0.0 T 0.0 T Pathogenic 19_45448465_T->G 19 45448465 45448465 T G snp 3182.76 0/1 99 249 128 121 0.49 exonic rs5167 APOC4 AU nonsynonymous SNV NM_001646 exon3 c.T287G p.L96R 0.439297 0.5724 0.392357 0.3892 0.5183 1 T 0.0 P -0.948 T 0.0 T 0.0 T ID=CM065970;DIS=Leukemia, risk, association with;TAG=DP;PUB=16574953 DP Pathogenic 19_45451620_T->A 19 45451620 45451620 T A snp 1730.77 1/1 99 52 0 52 1.0 ncRNA_intronic rs5120 APOC4-APOC2 AU 0.669928 0.6558 Uncertain 19_45452335_T->C 19 45452335 45452335 T C snp 762.77 1/1 60 24 0 24 1.0 ncRNA_intronic rs4803776 APOC4-APOC2 AU 0.669129 0.6558 Uncertain 19_45458146_A->C 19 45458146 45458146 A C snp 83.77 0/1 30 4 1 3 0.75 upstream rs3760629 CLPTM1 AU 0.570487 0.5873 Uncertain 19_45458925_C->T 19 45458925 45458925 C T snp 77.77 0/1 99 9 5 4 0.44 intronic rs7252480 CLPTM1 AU NM_001294 exon1 c.72+201C>T 0.324681 0.502 Uncertain 19_45465364_A->- 19 45465364 45465364 A - indel 1494.73 0/1 99 93 46 47 0.51 intronic rs35566032 CLPTM1 AU NM_001294 exon2 c.6680+32delA 0.46266 0.5585 0.390172 0.4569 0.5265 Uncertain 19_45476422_T->C 19 45476422 45476422 T C snp 1695.77 0/1 99 168 92 76 0.45 exonic rs204481 CLPTM1 AU synonymous SNV NM_001294 exon3 c.T264C p.A88A 0.902356 0.9306 0.918576 0.9426 0.9285 Uncertain 19_45477911_T->- 19 45477911 45477911 T - indel 3838.73 1/1 99 111 0 111 1.0 intronic rs11318909 CLPTM1 AU NM_001282176 exon4 c.1390+57delT 1 1 Uncertain 19_45477951_T->C 19 45477951 45477951 T C snp 381.77 0/1 99 30 17 13 0.43 intronic rs204479 CLPTM1 AU NM_001282176 exon4 c.1390+97T>C 0.902356 0.9306 Uncertain 19_45488434_A->G 19 45488434 45488434 A G snp 732.77 0/1 99 44 17 27 0.61 intronic rs204472 CLPTM1 AU NM_001282176 exon6 c.12011-41A>G 0.902157 0.9306 0.919037 0.9434 0.9284 Uncertain 19_45488567_T->C 19 45488567 45488567 T C snp 1081.77 0/1 99 89 43 46 0.52 splicing rs204471 CLPTM1 AU NM_001282176 exon6 c.12097+6T>C 0.902157 0.9306 0.919345 0.9431 0.9288 Pathogenic 19_45489548_-->G 19 45489548 45489548 - G indel 980.73 1/1 72 24 0 24 1.0 intronic rs397753149 CLPTM1 AU NM_001282176 exon7 c.13248-164insG 1 1 Uncertain 19_45490285_A->G 19 45490285 45490285 A G snp 186.77 0/1 60 8 2 6 0.75 intronic rs204469 CLPTM1 AU NM_001282176 exon8 c.13972-151A>G 0.892772 0.9306 Uncertain 19_45490570_A->G 19 45490570 45490570 A G snp 3092.77 0/1 99 249 129 120 0.48 exonic rs3786505 CLPTM1 AU synonymous SNV NM_001294 exon8 c.A927G p.P309P 0.426717 0.5288 0.376365 0.3664 0.4780 Uncertain 19_45494247_-->C 19 45494247 45494247 - C indel 9385.73 1/1 99 237 0 237 1.0 intronic rs11405080 CLPTM1 AU NM_001282176 exon11 c.17739+44insC 1 1 0.999920 1.0000 0.9999 Uncertain 19_45494350_C->- 19 45494350 45494350 C - indel 1729.73 1/1 99 52 0 52 1.0 intronic rs11333249 CLPTM1 AU NM_001282176 exon12 c.18031-145delC 1 1 Uncertain 19_45495668_G->C 19 45495668 45495668 G C snp 1464.77 0/1 99 107 53 54 0.5 intronic rs2075618 CLPTM1 AU NM_001282176 exon13 c.19194+10G>C 0.327676 0.502 0.261110 0.3032 0.4559 Uncertain 19_45495682_A->G 19 45495682 45495682 A G snp 1352.77 0/1 99 91 46 45 0.49 intronic rs2075619 CLPTM1 AU NM_001282176 exon13 c.19194+24A>G 0.429313 0.5308 0.371982 0.3677 0.4788 Uncertain 19_45496303_T->C 19 45496303 45496303 T C snp 2489.77 1/1 99 97 0 97 1.0 UTR3 rs9193 CLPTM1 AU 0.872604 0.9405 0.891320 0.8554 0.9504 Uncertain 19_45506772_T->A 19 45506772 45506772 T A snp 3091.77 1/1 99 92 0 92 1.0 intronic rs7251460 RELB AU NM_006509 exon2 c.1421+514T>A 0.882388 0.9435 Uncertain 19_45513236_G->A 19 45513236 45513236 G A snp 99.28 1/1 9 3 0 3 1.0 intronic rs874743 RELB AU NM_006509 exon3 c.10355-1956G>A 0.142772 0.1052 Uncertain 19_45528799_T->C 19 45528799 45528799 T C snp 2309.77 1/1 99 64 0 64 1.0 intronic rs2288918 RELB AU NM_006509 exon6 c.24026-64T>C 0.459465 0.501 Uncertain 19_45532009_G->T 19 45532009 45532009 G T snp 1125.77 1/1 84 31 0 31 1.0 intronic rs12609547 RELB AU NM_006509 exon7 c.27308-136G>T 0.458666 0.494 Uncertain 19_45535673_A->- 19 45535673 45535673 A - indel 130.8 1/1 18 6 0 6 1.0 intronic rs147163954 RELB AU NM_006509 exon8 c.30954-118delA 0.489018 0.4931 Uncertain 19_45561063_A->G 19 45561063 45561063 A G snp 1687.77 1/1 99 60 0 60 1.0 exonic rs4803794 CLASRP AU nonsynonymous SNV NM_001278439 exon6 c.A334G p.K112E 1 1 0.999923 1.0000 1 1 T 0.000 P -0.944 T 0.012 T 0.001 T Pathogenic 19_45570762_G->A 19 45570762 45570762 G A snp 1439.77 0/1 99 131 64 67 0.51 exonic rs12610027 CLASRP AU nonsynonymous SNV NM_001278439 exon13 c.G1391A p.R464H 0.00938498 0.0456 0.000099 0.0070 0.0899 0.27 T 0.824 D -1.021 T 0.883 T 0.116 P Pathogenic 19_45668256_G->A 19 45668256 45668256 G A snp 1411.77 0/1 99 113 56 57 0.5 intronic rs149332201 TRAPPC6A AU NM_024108 exon4 c.1779+28G>A 0.00299521 0.0129 0.000154 0.0010 0.0124 Uncertain 19_45681560_T->C 19 45681560 45681560 T C snp 3837.77 1/1 99 128 0 128 1.0 upstream rs7254936 BLOC1S3 AU 0.994609 1 Uncertain 19_45716678_G->C 19 45716678 45716678 G C snp 2271.77 1/1 99 86 0 86 1.0 intronic rs346740 EXOC3L2 AU NM_138568 exon1 c.289+63G>C 0.798722 0.7232 Uncertain 19_45762618_A->G 19 45762618 45762618 A G snp 83.28 1/1 9 3 0 3 1.0 intronic rs3810365 MARK4 AU NM_001199867 exon2 c.7601+171A>G 0.319489 0.0933 Uncertain 19_45769301_A->G 19 45769301 45769301 A G snp 77.77 0/1 48 7 2 5 0.71 intronic rs1872259 MARK4 AU NM_001199867 exon7 c.14636-181A>G 0.216454 0.1012 Uncertain 19_45769386_G->C 19 45769386 45769386 G C snp 1192.77 0/1 99 82 36 46 0.56 intronic rs2240671 MARK4 AU NM_001199867 exon7 c.14636-96G>C 0.169329 0.1012 Uncertain 19_45769575_G->A 19 45769575 45769575 G A snp 1318.77 0/1 99 109 49 60 0.55 intronic rs2240672 MARK4 AU NM_001199867 exon7 c.14693+36G>A 0.216054 0.1012 0.319699 0.2609 0.0844 Uncertain 19_45774680_A->G 19 45774680 45774680 A G snp 1207.77 0/1 99 100 46 54 0.54 intronic rs12984234 MARK4 AU NM_001199867 exon8 c.19883-49A>G 0.145966 0.1012 0.231201 0.2171 0.0834 Uncertain 19_45781082_TG->- 19 45781082 45781083 TG - indel 464.73 1/1 39 13 0 13 1.0 intronic rs397836612 MARK4 AU NM_001199867 exon9 c.26334-98_26334-97delTG Uncertain 19_45797593_T->C 19 45797593 45797593 T C snp 1433.77 0/1 99 138 73 65 0.47 intronic rs34313092 MARK4 AU NM_001199867 exon14 c.42760-13T>C 0.130391 0.0903 0.210518 0.2004 0.0824 Uncertain 19_45801018_T->C 19 45801018 45801018 T C snp 1762.77 1/1 99 58 0 58 1.0 exonic rs173179 MARK4 AU synonymous SNV NM_001199867 exon15 c.T1683C p.R561R 0.996605 1 0.989827 0.9904 0.9999 Uncertain 19_45801337_-->TCC 19 45801337 45801337 - TCC indel 1584.73 0/1 99 87 46 41 0.47 intronic rs138525840 MARK4 AU NM_031417 exon16 c.46554-63insTCC 0.115615 0.0903 Uncertain 19_45801536_G->T 19 45801536 45801536 G T snp 1001.77 0/1 99 90 46 44 0.49 intronic MARK4 AU NM_031417 exon16 c.46634+56G>T Uncertain 19_45810035_A->G 19 45810035 45810035 A G snp 2766.77 0/1 99 250 143 107 0.43 exonic rs4884 CKM AU synonymous SNV NM_001824 exon8 c.T1119C p.I373I 0.595248 0.2679 0.750654 0.6475 0.2406 Uncertain 19_45818628_A->G 19 45818628 45818628 A G snp 224.77 0/1 99 13 6 7 0.54 intronic rs377993 CKM AU NM_001824 exon5 c.8715-94A>G 0.391973 0.253 Uncertain 19_45818835_A->G 19 45818835 45818835 A G snp 1164.77 0/1 99 95 46 49 0.52 exonic rs1133190 CKM AU synonymous SNV NM_001824 exon4 c.T369C p.P123P 0.407149 0.2381 0.536522 0.5459 0.2354 Uncertain 19_45820927_G->A 19 45820927 45820927 G A snp 366.77 0/1 99 40 26 14 0.35 intronic rs12976956 CKM AU NM_001824 exon6 c.11075-155G>A 0.309305 0.2222 Uncertain 19_45850092_-->AGACCCTCCTTAGAATCCCACAGTCCCCA 19 45850092 45850092 - AGACCCTCCTTAGAATCCCACAGTCCCCA indel 2066.73 0/1 99 65 16 49 0.75 intronic KLC3 AU NM_177417 exon3 c.1233+60insAGACCCTCCTTAGAATCCCACAGTCCCCA Uncertain 19_45850096_C->T 19 45850096 45850096 C T snp 461.77 0/1 99 70 36 34 0.49 intronic rs113906887 KLC3 AU NM_177417 exon3 c.1233+64C>T Uncertain 19_45854071_A->C 19 45854071 45854071 A C snp 193.77 0/1 99 48 33 15 0.31 intronic rs558846191 KLC3 AU NM_177417 exon11 c.5206+66A>C 0.00239617 Uncertain 19_45856468_G->C 19 45856468 45856468 G C snp 2809.77 1/1 99 94 0 94 1.0 intronic rs238417 ERCC2 AU,AR NM_000400 exon6 c.1613-31G>C 0.634385 0.494 0.678456 0.5959 0.5235 Uncertain 19_45858245_C->T 19 45858245 45858245 C T snp 624.77 0/1 99 49 27 22 0.45 intronic rs3916868 ERCC2 AU,AR NM_000400 exon7 c.3223+136C>T 0.140575 0.1984 Uncertain 19_45858246_G->A 19 45858246 45858246 G A snp 682.77 0/1 99 49 22 27 0.55 intronic rs2070831 ERCC2 AU,AR NM_000400 exon7 c.3223+137G>A 0.272963 0.2073 Uncertain 19_45864969_G->A 19 45864969 45864969 G A snp 2460.77 0/1 99 190 94 96 0.51 intronic rs757054276 ERCC2 AU,AR NM_001130867 exon2 c.2783+69G>A 0.0002 0.0011 Uncertain 19_45865002_C->A 19 45865002 45865002 C A snp 6106.77 1/1 99 205 0 205 1.0 intronic rs171140 ERCC2 AU,AR NM_001130867 exon2 c.2783+102C>A 0.632987 0.496 0.6402 0.5855 CLINSIG=untested;CLNDBN=not_specified;CLNREVSTAT=no_assertion_provided;CLNACC=RCV000122389.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 19_45865192_TTTT->- 19 45865192 45865195 TTTT - indel 1645.73 0/1 99 51 21 30 0.59 intronic rs3916823 ERCC2 AU,AR NM_001130867 exon2 c.2783+292_2783+295delTTTT 0.0914537 0.1131 Uncertain 19_45865217_T->C 19 45865217 45865217 T C snp 891.77 1/1 66 27 0 27 1.0 intronic rs238403 ERCC2 AU,AR NM_001130867 exon2 c.2783+317T>C 0.639177 0.496 Uncertain 19_45867216_-->G 19 45867216 45867216 - G indel 1559.73 1/1 99 53 0 53 1.0 intronic rs3916815 ERCC2 AU,AR NM_001130867 exon4 c.5126-27insG 0.438099 0.4405 0.348820 0.2810 0.5382 Uncertain 19_45868006_A->T 19 45868006 45868006 A T snp 2022.77 1/1 99 56 0 56 1.0 intronic rs238405 ERCC2 AU,AR NM_001130867 exon7 c.5978-89A>T 0.634984 0.4901 Uncertain 19_45868309_T->G 19 45868309 45868309 T G snp 3954.77 1/1 99 137 0 137 1.0 exonic rs238406 ERCC2 AU,AR synonymous SNV NM_000400 exon6 c.A468C p.R156R 0.636182 0.4901 0.662540 0.5898 0.5167 ID=CM057545;DIS=Lung adenocarcinoma, increased risk, association with;TAG=DP;PUB=15896456 DP Uncertain 19_45868478_T->A 19 45868478 45868478 T A snp 1980.77 1/1 99 75 0 75 1.0 intronic rs238407 ERCC2 AU,AR NM_001130867 exon8 c.6299+62T>A 0.634984 0.4901 Uncertain 19_45872036_C->T 19 45872036 45872036 C T snp 1412.77 1/1 99 42 0 42 1.0 intronic rs1799783 ERCC2 AU,AR NM_001130867 exon9 c.9884+35C>T 0.636182 0.496 0.656870 0.5957 0.5359 Uncertain 19_45873942_G->C 19 45873942 45873942 G C snp 2632.77 1/1 99 98 0 98 1.0 upstream rs3810366 ERCC2 AU,AR 0.575479 0.4623 Uncertain 19_45909934_G->A 19 45909934 45909934 G A snp 795.77 0/1 99 52 19 33 0.63 UTR5 rs967591 CD3EAP AU 0.261581 0.4613 0.147142 0.2206 0.4262 ID=CR139839;DIS=Lung cancer, survival, association with;TAG=DFP;PUB=23775331 DFP Uncertain 19_45910003_G->T 19 45910003 45910003 G T snp 1560.77 0/1 99 120 52 68 0.57 intronic rs8113779 CD3EAP AU NM_001297590 exon1 c.28+21G>T 0.261182 0.4623 0.146261 0.2203 0.4301 Uncertain 19_45911309_-->A 19 45911309 45911309 - A indel 87.73 0/1 99 18 11 7 0.39 intronic rs35708119 CD3EAP AU NM_001297590 exon3 c.1436-81insA 0.262181 0.378 Uncertain 19_45911330_T->A 19 45911330 45911330 T A snp 418.77 0/1 99 45 28 17 0.38 intronic rs2013521 CD3EAP AU NM_001297590 exon3 c.1436-60T>A 0.286542 0.4613 Uncertain 19_45912002_A->C 19 45912002 45912002 A C snp 1490.77 0/1 99 118 56 62 0.53 exonic rs735482 CD3EAP AU nonsynonymous SNV NM_012099 exon3 c.A776C p.K259T 0.286741 0.4613 0.180917 0.2086 0.4435 0.56 T 0.0 P -0.943 T 0.0 T 0.0 T ID=CM139840;DIS=Lung cancer, survival, association with;TAG=DP;PUB=23775331 DP Pathogenic 19_45912343_A->G 19 45912343 45912343 A G snp 1275.77 0/1 99 102 54 48 0.47 exonic rs762562 CD3EAP AU nonsynonymous SNV NM_012099 exon3 c.A1117G p.K373E 0.286741 0.4613 0.179406 0.2082 0.4453 1 T 0.0 P -0.914 T 0.0 T 0.0 T Pathogenic 19_45912406_G->A 19 45912406 45912406 G A snp 2096.77 0/1 99 171 86 85 0.5 exonic rs2336219 CD3EAP AU nonsynonymous SNV NM_012099 exon3 c.G1180A p.D394N 0.282548 0.4613 0.173169 0.2071 0.4437 1 T 0.0 P -0.924 T 0.0 T 0.0 T Pathogenic 19_45918849_A->G 19 45918849 45918849 A G snp 193.77 0/1 99 18 5 13 0.72 intronic rs10401261 ERCC1 AR NM_202001 exon3 c.1413+631A>G 0.679313 0.7401 Uncertain 19_45920264_G->A 19 45920264 45920264 G A snp 43.77 0/1 72 6 3 3 0.5 intronic rs3212967 ERCC1 AR NM_202001 exon4 c.3350+109G>A 0.347244 0.4395 Uncertain 19_45922323_G->T 19 45922323 45922323 G T snp 2168.77 0/1 99 220 124 96 0.44 intronic rs3212961 ERCC1 AR NM_202001 exon5 c.5550-32G>T 0.154860 0.2190 0.5130 Uncertain 19_45923653_A->G 19 45923653 45923653 A G snp 3181.78 0/1 99 250 123 127 0.51 exonic rs11615 ERCC1 AR synonymous SNV NM_202001 exon3 c.T354C p.N118N 0.66893 0.7381 0.540058 0.5085 0.7365 Uncertain 19_45924362_G->C 19 45924362 45924362 G C snp 297.77 0/1 99 26 13 13 0.5 intronic rs3212948 ERCC1 AR NM_202001 exon7 c.7630-73G>C 0.657149 0.7381 Uncertain 19_45971961_C->G 19 45971961 45971961 C G snp 765.77 0/1 99 48 14 34 0.71 exonic rs2282695 FOSB AU synonymous SNV NM_001114171 exon1 c.C117G p.A39A 0.397364 0.2292 0.398014 0.3422 0.2499 Uncertain 19_45972039_A->C 19 45972039 45972039 A C snp 298.77 0/1 99 25 12 13 0.52 intronic rs2282696 FOSB AU NM_001114171 exon1 c.126+69A>C 0.630791 0.6558 Uncertain 19_45974593_T->C 19 45974593 45974593 T C snp 1015.77 0/1 99 72 33 39 0.54 intronic rs2276469 FOSB AU NM_006732 exon3 c.2715+34T>C 0.63119 0.6567 0.547737 0.5948 0.6558 Uncertain 19_45974668_C->T 19 45974668 45974668 C T snp 108.77 0/1 99 8 4 4 0.5 intronic rs2276470 FOSB AU NM_006732 exon3 c.2715+109C>T 0.631589 0.6567 Uncertain 19_45991636_G->C 19 45991636 45991636 G C snp 1105.77 1/1 81 31 0 31 1.0 intronic rs1603 RTN2 AD NM_005619 exon3 c.2763-92G>C 0.201877 0.2808 Uncertain 19_46002331_C->G 19 46002331 46002331 C G snp 2255.77 0/1 99 221 119 102 0.46 exonic rs772491110 PPM1N AU nonsynonymous SNV NM_001080401 exon1 c.C601G p.R201G 0.0005 0.0063 0 D 0.519 N -1.037 T 0.778 T 0.499 P Pathogenic 19_46027752_C->T 19 46027752 46027752 C T snp 1378.77 0/1 99 96 42 54 0.56 intronic rs4802260 VASP AU NM_003370 exon11 c.16798-75C>T 0.782947 0.7817 Uncertain 19_46056620_C->T 19 46056620 46056620 C T snp 423.77 1/1 33 11 0 11 1.0 UTR3 rs3826861 OPA3 AR,AD 0.710663 0.8532 Uncertain 19_46057081_A->G 19 46057081 46057081 A G snp 5651.77 1/1 99 203 0 203 1.0 exonic rs3826860 OPA3 AR,AD synonymous SNV NM_025136 exon2 c.T231C p.A77A 0.766973 0.8869 0.682560 0.7076 0.8758 CLINSIG=non-pathogenic|probable-non-pathogenic;CLNDBN=Optic_atrophy_and_cataract\x2c_autosomal_dominant|not_provided;CLNREVSTAT=no_assertion_criteria_provided|no_assertion_criteria_provided;CLNACC=RCV000020908.1|RCV000132683.1;CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet|MedGen;CLNDSDBID=NBK1473:C1833809:165300:ORPHA67036|CN221809 Uncertain 19_46121020_T->C 19 46121020 46121020 T C snp 567.77 0/1 99 48 27 21 0.44 intronic rs12985660 EML2 AU NM_001193269 exon7 c.8035+65T>C 0.707069 0.8006 0.592422 Uncertain 19_46124517_C->T 19 46124517 46124517 C T snp 1419.77 0/1 99 103 42 61 0.59 exonic rs3816045 EML2 AU nonsynonymous SNV NM_012155 exon11 c.G1070A p.R357H 0.048123 0.1151 0.013840 0.0228 0.1494 0.07 T 0.713 P -1.073 T 1.0 D 0.972 D Pathogenic 19_46129999_C->A 19 46129999 46129999 C A snp 701.77 0/1 99 81 46 35 0.43 exonic rs1545040 EML2 AU nonsynonymous SNV NM_012155 exon8 c.G705T p.E235D 0.134585 0.1488 0.084038 0.0657 0.1825 0.51 T 0.968 P -0.962 T 0.149 T 0.067 T Pathogenic 19_46130191_T->G 19 46130191 46130191 T G snp 123.77 0/1 99 22 16 6 0.27 intronic rs1548026 EML2 AU NM_001193269 exon12 c.17177+94T>G 0.71266 0.7837 Uncertain 19_46145025_G->T 19 46145025 46145025 G T snp 2538.77 0/1 99 156 65 91 0.58 splicing rs2286756 C19orf83 AU 0.613618 0.4921 0.5730 0.5396 Pathogenic 19_46148386_C->T 19 46148386 46148386 C T snp 105.77 0/1 99 10 6 4 0.4 intronic rs11670462 EML2 AU NM_001193268 exon22 c.35610-144C>T 0.334665 0.4196 Uncertain 19_46180150_A->G 19 46180150 46180150 A G snp 2092.77 1/1 99 68 0 68 1.0 intronic rs4803846 GIPR AU NM_000164 exon8 c.7428-56A>G 0.788139 0.8046 Uncertain 19_46185217_C->A 19 46185217 46185217 C A snp 1111.77 0/1 99 74 27 47 0.64 UTR3 rs12709891 GIPR AU 0.260184 0.374 0.207940 0.2970 0.5045 Uncertain 19_46191021_A->G 19 46191021 46191021 A G snp 218.77 0/1 99 14 7 7 0.5 intronic rs2075142 SNRPD2 AU NM_177542 exon1 c.175+36A>G 0.260783 0.371 0.218284 0.2710 0.4194 Uncertain 19_46191828_C->T 19 46191828 46191828 C T snp 2439.77 0/1 99 228 123 105 0.46 splicing rs10403723 SNRPD2 AU NM_177542 exon2 c.1014+4C>T 0.269968 0.2341 0.250577 0.2981 0.2139 Pathogenic 19_46192367_-->C 19 46192367 46192367 - C indel 2289.73 0/1 99 159 84 75 0.47 intronic rs397934129 SNRPD2 AU NM_177542 exon3 c.1680-123insC 0.276158 0.2351 Uncertain 19_46192403_T->A 19 46192403 46192403 T A snp 2234.77 0/1 99 214 117 97 0.45 intronic rs28396273 SNRPD2 AU NM_177542 exon3 c.1680-87T>A 0.270168 0.2351 0.256242 Uncertain 19_46195051_-->C 19 46195051 46195051 - C indel 1851.73 0/1 99 157 77 80 0.51 intronic rs397937545 SNRPD2 AU NM_177542 exon4 c.4334-93insC 0.200679 0.0754 0.204233 Uncertain 19_46195410_A->G 19 46195410 46195410 A G snp 90.28 1/1 9 3 0 3 1.0 UTR5 rs10426987 SNRPD2 AU 0.998003 1 Uncertain 19_46196634_C->G 19 46196634 46196634 C G snp 577.77 0/1 99 23 4 19 0.83 intronic rs2302593 QPCTL AU NM_001163377 exon2 c.709-36C>G 0.423323 0.4454 0.418038 0.4793 0.4251 Uncertain 19_46198617_A->G 19 46198617 46198617 A G snp 35.77 0/1 64 4 2 2 0.5 intronic rs149050376 QPCTL AU NM_017659 exon3 c.2733-77A>G 0.00279553 0.0129 Uncertain 19_46204938_C->T 19 46204938 46204938 C T snp 3496.77 1/1 99 121 0 121 1.0 intronic rs4803847 QPCTL AU NM_001163377 exon5 c.9094-117C>T 0.993011 1 Uncertain 19_46205050_T->C 19 46205050 46205050 T C snp 3572.77 0/1 99 250 107 143 0.57 splicing rs4803848 QPCTL AU NM_001163377 exon5 c.9094-5T>C 0.750998 0.7937 0.740735 0.6795 0.7915 Pathogenic 19_46214701_A->- 19 46214701 46214701 A - indel 425.73 0/1 99 55 22 33 0.6 UTR3 rs138545162 FBXO46 AU 0.2855 0.4483 Uncertain 19_46216642_G->T 19 46216642 46216642 G T snp 1327.77 0/1 99 85 35 50 0.59 exonic rs11537711 FBXO46 AU nonsynonymous SNV NM_001080469 exon2 c.C112A p.P38T 0.117013 0.0833 0.120426 0.1260 0.0666 0.51 T 0.003 P -1.012 T 0.0 T 0.001 T Pathogenic 19_46238555_T->C 19 46238555 46238555 T C snp 835.77 1/1 63 25 0 25 1.0 intergenic rs2041975 FBXO46 AU 0.533546 0.631 Uncertain 19_46238926_G->T 19 46238926 46238926 G T snp 288.78 1/1 24 8 0 8 1.0 intergenic rs4803852 FBXO46 AU 0.899161 0.9226 Uncertain 19_46248407_G->A 19 46248407 46248407 G A snp 2365.77 1/1 99 85 0 85 1.0 intergenic rs10404220 FBXO46 AU 0.529553 0.629 0.5165 0.6535 Uncertain 19_46258024_A->G 19 46258024 46258024 A G snp 1486.77 1/1 99 53 0 53 1.0 intergenic rs918164 FBXO46 AU 0.5265 0.625 Uncertain 19_46260375_C->T 19 46260375 46260375 C T snp 1207.77 1/1 90 39 0 39 1.0 intergenic rs4802275 FBXO46 AU 0.539537 0.63 Uncertain 19_46265029_C->T 19 46265029 46265029 C T snp 3182.76 1/1 99 115 2 113 0.98 intergenic rs8112282 FBXO46 AU 0.536741 0.6151 0.5459 0.7062 Uncertain 19_46265047_-->TCCAGC 19 46265047 46265047 - TCCAGC indel 1982.73 1/1 78 79 0 79 1.0 intergenic rs139434566 FBXO46 AU 0.4523 0.5933 Uncertain 19_46269076_G->A 19 46269076 46269076 G A snp 2697.77 1/1 99 93 0 93 1.0 exonic rs2014576 SIX5 AU nonsynonymous SNV NM_175875 exon3 c.C1903T p.P635S 0.500998 0.6111 0.403171 0.5066 0.6451 0.23 T 0.000 P -0.954 T 0.004 T 0.002 T Pathogenic 19_46269313_G->C 19 46269313 46269313 G C snp 2973.77 1/1 99 118 0 118 1.0 exonic rs2014377 SIX5 AU nonsynonymous SNV NM_175875 exon3 c.C1666G p.L556V 0.903954 0.9226 0.872385 0.8540 0.9285 1 T 0.0 P -0.963 T 0.0 T 0.0 T Pathogenic 19_46274171_A->C 19 46274171 46274171 A C snp 683.77 1/1 51 23 0 23 1.0 intronic rs635299 DMPK AD NM_001081560 exon2 c.483-57A>C 0.608227 0.628 Uncertain 19_46274972_A->C 19 46274972 46274972 A C snp 5338.77 1/1 99 192 0 192 1.0 intronic rs915915 DMPK AD NM_001288766 exon2 c.1033+49A>C 0.576078 0.629 0.478241 0.5202 0.6522 Uncertain 19_46275976_G->C 19 46275976 46275976 G C snp 1156.77 0/1 99 78 34 44 0.56 exonic rs527221 DMPK AD nonsynonymous SNV NM_004409 exon10 c.C1267G p.L423V 0.145168 0.1796 0.097417 0.1469 0.1873 0.6 T 1.0 P -1.001 T 0.999 D 0.973 D CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000116883.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 19_46276056_C->A 19 46276056 46276056 C A snp 715.77 1/1 54 21 0 21 1.0 intronic rs16939 DMPK AD NM_001288766 exon4 c.2120+46C>A 0.53754 0.627 0.443769 0.5062 0.6669 Uncertain 19_46281745_A->G 19 46281745 46281745 A G snp 1760.77 1/1 99 55 0 55 1.0 splicing rs1799894 DMPK AD NM_001288766 exon9 c.7860-5A>G 0.523297 0.5351 0.6529 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000116882.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 19_46282503_A->C 19 46282503 46282503 A C snp 1195.77 0/1 99 106 52 54 0.51 intronic rs572634 DMPK AD NM_001288766 exon10 c.8631-18A>C 0.122604 0.0923 0.094572 0.1409 0.1015 Uncertain 19_46287200_C->G 19 46287200 46287200 C G snp 774.77 1/1 57 27 0 27 1.0 UTR3 rs617988 DMWD AU 0.513578 0.6319 Uncertain 19_46288706_A->T 19 46288706 46288706 A T snp 398.77 1/1 30 13 0 13 1.0 intronic rs3760843 DMWD AU NM_004943 exon3 c.1351-145A>T 0.901358 0.9216 0.8744 0.9487 Uncertain 19_46289392_G->C 19 46289392 46289392 G C snp 5103.77 1/1 99 183 0 183 1.0 exonic rs8110017 DMWD AU synonymous SNV NM_004943 exon3 c.C1362G p.P454P 0.901158 0.9216 0.869765 0.8663 0.9340 Uncertain 19_46294510_G->A 19 46294510 46294510 G A snp 50.74 1/1 6 2 0 2 1.0 intronic rs1865116 DMWD AU NM_004943 exon4 c.6845+165G>A 0.521565 0.6339 Uncertain 19_46299437_G->T 19 46299437 46299437 G T snp 33.79 0/1 23 4 1 3 0.75 intronic RSPH6A AU NM_030785 exon1 c.238+73G>T Uncertain 19_46313758_G->C 19 46313758 46313758 G C snp 418.77 0/1 99 22 8 14 0.64 intronic rs10402263 RSPH6A AU NM_030785 exon5 c.14734-102G>C 0.424521 0.5427 Uncertain 19_46313825_A->T 19 46313825 46313825 A T snp 956.77 0/1 99 80 39 41 0.51 intronic rs10407137 RSPH6A AU NM_030785 exon5 c.14734-35A>T 0.785343 0.8204 0.788175 0.7539 0.8225 Uncertain 19_46318963_C->A 19 46318963 46318963 C A snp 1087.77 0/1 99 87 43 44 0.51 intronic rs3810331 SYMPK AU NM_004819 exon1 c.138+8C>A 0.865815 0.8948 0.890214 0.8637 0.8915 Uncertain 19_46319415_G->C 19 46319415 46319415 G C snp 102.77 0/1 99 11 7 4 0.36 exonic rs1132645 SYMPK AU synonymous SNV NM_004819 exon26 c.C3381G p.A1127A 0.358027 0.6409 0.5052 0.7485 Uncertain 19_46326200_A->G 19 46326200 46326200 A G snp 609.77 0/1 99 50 27 23 0.46 intronic rs12976060 SYMPK AU NM_004819 exon7 c.7287+96A>G 0.854832 0.9048 Uncertain 19_46327185_G->C 19 46327185 46327185 G C snp 338.77 0/1 99 41 28 13 0.32 intronic rs7252416 SYMPK AU NM_004819 exon9 c.8316+52G>C 0.854832 0.9048 0.870875 0.8454 0.8982 Uncertain 19_46329387_C->G 19 46329387 46329387 C G snp 216.77 0/1 99 16 7 9 0.56 intronic rs12459063 SYMPK AU NM_004819 exon11 c.10666-96C>G 0.854832 0.9048 Uncertain 19_46329438_G->A 19 46329438 46329438 G A snp 666.77 0/1 99 67 39 28 0.42 intronic rs7246155 SYMPK AU NM_004819 exon11 c.10666-45G>A 0.855032 0.9048 0.867206 0.8389 0.8920 Uncertain 19_46331302_C->G 19 46331302 46331302 C G snp 260.77 0/1 99 24 13 11 0.46 intronic rs4239535 SYMPK AU NM_004819 exon13 c.12359+126C>G 0.852236 0.9048 Uncertain 19_46332194_C->T 19 46332194 46332194 C T snp 1146.77 0/1 99 84 40 44 0.52 intronic rs3745929 SYMPK AU NM_004819 exon14 c.13410-33C>T 0.854832 0.9048 0.866369 0.8446 0.8984 Uncertain 19_46333632_G->A 19 46333632 46333632 G A snp 405.77 0/1 99 31 17 14 0.45 intronic rs4516331 SYMPK AU NM_004819 exon15 c.14645+170G>A 0.854832 0.9048 Uncertain 19_46334955_C->T 19 46334955 46334955 C T snp 489.77 0/1 99 39 21 18 0.46 intronic rs4803866 SYMPK AU NM_004819 exon16 c.16029+109C>T 0.855032 0.9048 Uncertain 19_46341824_C->T 19 46341824 46341824 C T snp 1772.77 0/1 99 158 82 76 0.48 exonic rs17850110 SYMPK AU synonymous SNV NM_004819 exon10 c.G1137A p.P379P 0.144968 0.0952 0.134323 0.1567 0.1015 Uncertain 19_46345782_-->C 19 46345782 46345782 - C indel 775.73 0/1 99 32 12 20 0.63 intronic rs145931067 SYMPK AU NM_004819 exon19 c.26930+35insC 0.144569 0.0952 0.134105 0.1570 0.1019 Uncertain 19_46350960_A->G 19 46350960 46350960 A G snp 226.77 0/1 99 21 11 10 0.48 intronic rs3745928 SYMPK AU NM_004819 exon21 c.32192-49A>G 0.144569 0.0913 0.133708 0.1561 0.0993 Uncertain 19_46352122_A->G 19 46352122 46352122 A G snp 797.77 0/1 99 78 43 35 0.45 exonic rs2303014 SYMPK AU synonymous SNV NM_004819 exon6 c.T312C p.I104I 0.123602 0.0952 0.115870 0.1507 0.1015 Uncertain 19_46352203_C->T 19 46352203 46352203 C T snp 537.77 0/1 99 41 19 22 0.54 intronic rs2303013 SYMPK AU NM_004819 exon22 c.33317+69C>T 0.234425 0.1647 Uncertain 19_46357313_T->C 19 46357313 46357313 T C snp 909.77 0/1 99 65 33 32 0.49 intronic rs11670136 SYMPK AU NM_004819 exon25 c.38615-119T>C 0.455072 0.5188 Uncertain 19_46357811_C->A 19 46357811 46357811 C A snp 1248.77 0/1 99 90 40 50 0.56 intronic rs2287718 SYMPK AU NM_004819 exon26 c.38948+46C>A 0.144369 0.0923 0.1578 0.1006 Uncertain 19_46367703_T->C 19 46367703 46367703 T C snp 659.77 0/1 99 76 45 31 0.41 UTR5 rs11667582 FOXA3 AU 0.145567 0.0913 0.120847 0.2742 0.197 Uncertain 19_46367901_T->C 19 46367901 46367901 T C snp 2467.77 1/1 99 91 0 91 1.0 intronic rs1363538 FOXA3 AU NM_004497 exon1 c.69+118T>C 0.999201 1 Uncertain 19_46367945_G->C 19 46367945 46367945 G C snp 709.77 0/1 99 50 23 27 0.54 intronic rs3810329 FOXA3 AU NM_004497 exon1 c.69+162G>C 0.145367 0.0913 Uncertain 19_46387503_T->C 19 46387503 46387503 T C snp 1637.77 0/1 99 165 94 71 0.43 exonic rs3745926 IRF2BP1 AU synonymous SNV NM_015649 exon1 c.A1530G p.L510L 0.321486 0.3125 0.288842 0.2317 0.3107 Uncertain 19_46388379_C->G 19 46388379 46388379 C G snp 2805.77 0/1 99 231 118 113 0.49 exonic rs3826892 IRF2BP1 AU synonymous SNV NM_015649 exon1 c.G654C p.R218R 0.159145 0.3938 0.071044 0.1039 0.3953 Uncertain 19_46393885_G->A 19 46393885 46393885 G A snp 556.77 0/1 99 39 15 24 0.62 exonic rs147675790 MYPOP AU nonsynonymous SNV NM_001012643 exon3 c.C1196T p.P399L 0.00399361 0.0188 0.000079 0.0018 0.0220 0 D 0.853 D -1.050 T 0.072 T 0.005 T Pathogenic 19_46394187_C->T 19 46394187 46394187 C T snp 189.77 0/1 99 24 13 11 0.46 exonic rs62111265 MYPOP AU synonymous SNV NM_001012643 exon3 c.G894A p.L298L 0.125399 0.0992 0.124209 0.2732 0.1883 Uncertain 19_46394241_A->G 19 46394241 46394241 A G snp 271.77 0/1 99 29 15 14 0.48 exonic rs200497159 MYPOP AU synonymous SNV NM_001012643 exon3 c.T840C p.L280L 0.00419329 0.0198 0.0075 0.0640 Uncertain 19_46404428_G->A 19 46404428 46404428 G A snp 1246.77 0/1 99 102 53 49 0.48 intronic rs35633692 MYPOP AU NM_001012643 exon2 c.10652-104G>A 0.194688 0.1577 Uncertain 19_46404579_A->G 19 46404579 46404579 A G snp 5150.77 1/1 99 187 1 186 0.99 exonic rs10423899 MYPOP AU synonymous SNV NM_001012643 exon2 c.T453C p.P151P 0.845647 1 0.813871 0.8094 0.9981 Uncertain 19_46443739_T->G 19 46443739 46443739 T G snp 2156.77 0/1 99 234 136 98 0.42 exonic rs28742045 NOVA2 AU synonymous SNV NM_002516 exon4 c.A861C p.A287A 0.735024 0.7937 0.726297 0.6986 0.8044 Uncertain 19_46443886_C->A 19 46443886 46443886 C A snp 1640.77 0/1 99 90 34 56 0.62 exonic rs1047061 NOVA2 AU synonymous SNV NM_002516 exon4 c.G714T p.L238L 0.669529 0.7937 0.664414 0.6993 0.8223 Uncertain 19_46464225_G->A 19 46464225 46464225 G A snp 242.77 0/1 99 33 19 14 0.42 intronic rs35514609 NOVA2 AU NM_002516 exon3 c.21147-42G>A 0.165136 0.1944 0.153690 0.1889 0.1754 Uncertain 19_46498353_C->G 19 46498353 46498353 C G snp 437.77 0/1 99 68 47 21 0.31 upstream rs892217 CCDC61 AU 0.414537 0.3254 0.462942 0.4471 0.3284 Uncertain 19_46498827_G->A 19 46498827 46498827 G A snp 152.77 0/1 99 13 7 6 0.46 intronic rs746401 CCDC61 AU 0.305711 0.2044 Uncertain 19_46498835_C->T 19 46498835 46498835 C T snp 142.77 0/1 99 12 7 5 0.42 intronic rs55951953 CCDC61 AU 0.414137 0.3224 Uncertain 19_46506203_C->G 19 46506203 46506203 C G snp 971.77 0/1 99 90 47 43 0.48 intronic rs12608903 CCDC61 AU 0.251797 0.5496 Uncertain 19_46511548_T->C 19 46511548 46511548 T C snp 539.77 0/1 99 57 36 21 0.37 exonic rs2287305 CCDC61 AU synonymous SNV NM_001267723 exon5 c.T540C p.H180H 0.933506 0.878 0.974605 0.9702 0.8752 Uncertain 19_46520026_A->G 19 46520026 46520026 A G snp 558.77 0/1 99 73 44 29 0.4 exonic rs2287306 CCDC61 AU nonsynonymous SNV NM_001267723 exon10 c.A1166G p.Q389R 0.759385 0.6052 0.788215 0.7784 0.6558 1 T 0.000 P -0.969 T 0.0 T 0.0 T Pathogenic 19_46526298_T->G 19 46526298 46526298 T G snp 330.77 0/1 99 16 5 11 0.69 UTR5 rs2072562 PGLYRP1 AU 0.528155 0.5694 0.415398 0.4670 0.6017 Uncertain 19_46543249_T->C 19 46543249 46543249 T C snp 356.77 0/1 99 30 17 13 0.43 intronic rs756401 IGFL4 AU NM_001002923 exon1 c.45+55T>C 0.760783 0.874 Uncertain 19_46546187_G->T 19 46546187 46546187 G T snp 491.77 0/1 99 57 31 26 0.46 intergenic rs10408104 IGFL4 AU 0.110823 0.0744 Uncertain 19_46546397_G->A 19 46546397 46546397 G A snp 230.84 0/1 18 9 1 8 0.89 intergenic rs10408583 IGFL4 AU 0.108626 0.0724 Uncertain 19_46627592_G->A 19 46627592 46627592 G A snp 1882.77 0/1 99 162 82 80 0.49 intronic rs2287307 IGFL3 AU NM_207393 exon3 c.3992+14G>A 0.383387 0.3145 0.492985 0.4850 0.3 Uncertain 19_46640551_C->A 19 46640551 46640551 C A snp 3427.77 0/1 99 248 121 127 0.51 intergenic rs1990765 IGFL3 AU 0.562899 0.3948 Uncertain 19_46652403_-->TCT 19 46652403 46652403 - TCT indel 311.73 0/1 99 16 5 11 0.69 intronic IGFL2 AU NM_001002915 exon2 c.52+109insTCT Uncertain 19_46664400_A->G 19 46664400 46664400 A G snp 1362.77 0/1 99 125 62 63 0.5 UTR3 rs10408162 IGFL2 AU 0.584465 0.4147 0.676960 Uncertain 19_46733912_A->G 19 46733912 46733912 A G snp 696.77 0/1 99 35 13 22 0.63 ncRNA_intronic rs2286802 RNU6-66P AU 0.53754 0.5188 Uncertain 19_46733916_G->A 19 46733916 46733916 G A snp 610.77 0/1 99 35 15 20 0.57 ncRNA_intronic rs2286803 RNU6-66P AU 0.536342 0.5169 Uncertain 19_46734255_A->C 19 46734255 46734255 A C snp 93.77 0/1 99 17 13 4 0.24 ncRNA_intronic rs2286804 RNU6-66P AU 0.461861 0.4484 Uncertain 19_46800197_C->T 19 46800197 46800197 C T snp 44.77 0/1 72 5 2 3 0.6 ncRNA_intronic rs3810300 RNU6-66P AU 0.171725 0.2599 Uncertain 19_46800228_T->C 19 46800228 46800228 T C snp 108.77 0/1 99 15 8 7 0.47 ncRNA_intronic rs3810299 RNU6-66P AU 0.175319 0.2599 Uncertain 19_46800433_G->A 19 46800433 46800433 G A snp 475.77 0/1 99 59 34 25 0.42 ncRNA_intronic rs3826795 RNU6-66P AU 0.275559 0.4494 Uncertain 19_46811256_C->T 19 46811256 46811256 C T snp 56.74 1/1 6 2 0 2 1.0 intronic rs62135344 HIF3A AU NM_022462 exon3 c.4288-221C>T Uncertain 19_46811815_A->G 19 46811815 46811815 A G snp 147.77 0/1 99 9 4 5 0.56 intronic rs731293 HIF3A AU NM_022462 exon4 c.4730-104A>G 0.261981 0.3859 Uncertain 19_46811984_A->G 19 46811984 46811984 A G snp 786.77 0/1 99 68 34 34 0.5 exonic rs2311054 HIF3A AU synonymous SNV NM_022462 exon4 c.A306G p.T102T 0.764177 0.7817 0.806839 0.8176 0.7599 0 D 1.000 P -1.031 T Likely benign 19_46812126_A->G 19 46812126 46812126 A G snp 369.77 0/1 99 27 11 16 0.59 intronic rs757638 HIF3A AU NM_022462 exon4 c.4843+94A>G 0.830871 0.8274 Uncertain 19_46814003_C->G 19 46814003 46814003 C G snp 835.77 0/1 99 59 25 34 0.58 intronic rs79263603 HIF3A AU NM_022462 exon5 c.5427+1387C>G 0.153355 0.3214 Uncertain 19_46815297_T->C 19 46815297 46815297 T C snp 4741.77 1/1 99 166 0 166 1.0 intronic rs8101216 HIF3A AU NM_022462 exon6 c.8228-120T>C 0.827476 0.873 0.840077 0.8694 0.8562 Uncertain 19_46815310_G->A 19 46815310 46815310 G A snp 2001.77 0/1 99 180 92 88 0.49 intronic rs12461322 HIF3A AU NM_022462 exon6 c.8228-107G>A 0.14996 0.3135 0.087374 0.1328 0.3185 Uncertain 19_46815499_T->C 19 46815499 46815499 T C snp 6840.77 1/1 99 239 0 239 1.0 exonic rs8101480 HIF3A AU synonymous SNV NM_022462 exon6 c.T645C p.D215D 0.867812 0.8621 0.901353 0.9024 0.8526 1.000 P -1.034 T Likely benign 19_46815704_TATT->- 19 46815704 46815707 TATT - indel 5453.73 1/1 99 86 0 86 1.0 intronic rs375018419 HIF3A AU NM_022462 exon7 c.8573-58_8573-55delTATT 0.241214 0.3879 0.592821 0.2425 0.3899 Uncertain 19_46815711_C->T 19 46815711 46815711 C T snp 2428.77 1/1 99 81 1 80 0.99 intronic rs116478928 HIF3A AU NM_022462 exon7 c.8573-51C>T 0.269369 0.3889 0.2390 0.3889 0.22 T 1 N -1.037 T 0.0 T 0.001 T CLINSIG=untested;CLNDBN=Malignant_melanoma;CLNREVSTAT=no_assertion_provided;CLNACC=RCV000063578.2;CLNDSDB=MedGen:SNOMED_CT;CLNDSDBID=C0025202:2092003 Uncertain 19_46815993_T->C 19 46815993 46815993 T C snp 383.77 0/1 99 25 10 15 0.6 intronic rs73940660 HIF3A AU NM_022462 exon7 c.8721+83T>C 0.110423 0.0764 Uncertain 19_46823488_A->G 19 46823488 46823488 A G snp 111.77 0/1 99 9 5 4 0.44 intronic rs11672967 HIF3A AU NM_022462 exon8 c.16510-211A>G 0.154952 0.3284 Uncertain 19_46823702_A->G 19 46823702 46823702 A G snp 7095.77 1/1 99 250 0 250 1.0 exonic rs3764609 HIF3A AU nonsynonymous SNV NM_022462 exon8 c.A821G p.Q274R 0.225839 0.3988 0.147624 0.2210 0.4079 0.28 T 0.000 P -0.917 T 0.0 T 0.0 T Pathogenic 19_46823751_C->T 19 46823751 46823751 C T snp 7231.77 1/1 99 249 1 248 1.0 exonic rs3764610 HIF3A AU synonymous SNV NM_022462 exon8 c.C870T p.H290H 0.200479 0.3224 0.135091 0.1929 0.3189 0.175 P -0.940 T Likely benign 19_46834320_G->A 19 46834320 46834320 G A snp 50.74 1/1 6 2 0 2 1.0 intronic rs77498043 HIF3A AU NM_022462 exon12 c.27223-92G>A 0.0357428 0.0506 Uncertain 19_46834683_A->G 19 46834683 46834683 A G snp 226.77 0/1 99 12 4 8 0.67 intronic rs11665853 HIF3A AU NM_022462 exon12 c.27341+153A>G 0.165136 0.3234 Uncertain 19_46856963_G->A 19 46856963 46856963 G A snp 1712.77 0/1 99 148 75 73 0.49 intronic rs917947 PPP5C AU NM_006247 exon2 c.6651-41G>A 0.173922 0.376 0.082039 0.1597 0.3956 Uncertain 19_46857015_C->T 19 46857015 46857015 C T snp 2647.77 0/1 99 221 113 108 0.49 exonic rs917948 PPP5C AU synonymous SNV NM_001204284 exon2 c.C132T p.Y44Y 0.173922 0.375 0.081655 0.1601 0.3970 Uncertain 19_46857286_G->A 19 46857286 46857286 G A snp 347.77 0/1 99 24 12 12 0.5 intronic rs2075144 PPP5C AU NM_006247 exon2 c.6893+40G>A 0.569688 0.5873 0.537762 0.5486 0.5646 Uncertain 19_46887007_G->C 19 46887007 46887007 G C snp 3289.77 1/1 99 122 1 121 0.99 intronic rs1024781 PPP5C AU NM_006247 exon6 c.36683-29G>C 0.988219 1 0.974781 0.9712 1 Uncertain 19_46890247_G->C 19 46890247 46890247 G C snp 456.77 0/1 99 34 19 15 0.44 intronic rs58701793 PPP5C AU NM_006247 exon8 c.39996-102G>C 0.182109 0.378 Uncertain 19_46892111_C->T 19 46892111 46892111 C T snp 651.77 0/1 99 48 19 29 0.6 intronic rs759290 PPP5C AU NM_006247 exon11 c.41635+123C>T 0.670527 0.621 Uncertain 19_46892168_T->C 19 46892168 46892168 T C snp 170.77 0/1 99 11 5 6 0.55 intronic rs8106745 PPP5C AU NM_006247 exon11 c.41635+180T>C 0.714058 0.622 Uncertain 19_46893238_A->C 19 46893238 46893238 A C snp 2353.77 1/1 99 88 0 88 1.0 intronic rs759291 PPP5C AU NM_006247 exon12 c.42954-69A>C 0.895168 1 Uncertain 19_46893465_A->G 19 46893465 46893465 A G snp 2597.77 1/1 99 86 0 86 1.0 intronic rs2311213 PPP5C AU NM_006247 exon13 c.43187-75A>G 0.988019 1 Uncertain 19_46914547_C->G 19 46914547 46914547 C G snp 2205.77 0/1 99 187 91 96 0.51 exonic rs2279517 CCDC8 AR nonsynonymous SNV NM_032040 exon1 c.G1521C p.K507N 0.0822684 0.2004 0.044287 0.0708 0.1815 0.01 T 0.138 P -1.101 T 0.904 T 0.625 P Pathogenic 19_46914927_C->T 19 46914927 46914927 C T snp 774.77 0/1 99 80 47 33 0.41 exonic rs75175362 CCDC8 AR nonsynonymous SNV NM_032040 exon1 c.G1141A p.D381N 0.0800719 0.2004 0.041135 0.0695 0.1810 0.49 T 0.0 P -0.958 T 0.358 T 0.086 T Pathogenic 19_46916127_C->G 19 46916127 46916127 C G snp 251.77 0/1 99 26 15 11 0.42 UTR5 CCDC8 AR Uncertain 19_46971773_T->G 19 46971773 46971773 T G snp 1068.77 0/1 99 104 58 46 0.44 UTR3 rs45575940 PNMAL1 AU 0.253794 0.3651 0.211287 0.2338 0.3669 Uncertain 19_46973981_G->A 19 46973981 46973981 G A snp 998.77 0/1 99 138 90 48 0.35 exonic rs4803960 PNMAL1 AU synonymous SNV NM_001103149 exon2 c.C312T p.A104A 0.236222 0.1796 0.280025 0.2320 0.1650 Uncertain 19_46974233_G->A 19 46974233 46974233 G A snp 2865.77 0/1 99 207 88 119 0.57 exonic rs3826851 PNMAL1 AU synonymous SNV NM_001103149 exon2 c.C60T p.D20D 0.214257 0.1806 0.257112 0.2254 0.1659 Uncertain 19_46974306_A->C 19 46974306 46974306 A C snp 1961.77 0/1 99 156 73 83 0.53 UTR5 rs12978825 PNMAL1 AU 0.22484 0.1796 0.269952 0.2293 0.1646 Uncertain 19_46974307_C->T 19 46974307 46974307 C T snp 1737.77 0/1 99 155 82 73 0.47 UTR5 rs3826852 PNMAL1 AU 0.752596 0.8204 0.695525 0.7396 0.8349 Uncertain 19_46974324_A->G 19 46974324 46974324 A G snp 1620.77 0/1 99 131 64 67 0.51 UTR5 rs3826853 PNMAL1 AU 0.22484 0.1796 0.270455 0.2334 0.1657 Uncertain 19_46974399_C->G 19 46974399 46974399 C G snp 427.77 0/1 99 32 17 15 0.47 intronic rs3826854 PNMAL1 AU NM_018215 exon2 c.2554+28C>G 0.234026 0.1806 Uncertain 19_46996186_T->C 19 46996186 46996186 T C snp 711.77 0/1 99 90 58 32 0.36 UTR3 rs11882222 PNMAL2 AU 0.249601 0.3968 Uncertain 19_46997522_C->T 19 46997522 46997522 C T snp 3053.77 0/1 99 250 125 125 0.5 exonic rs3745790 PNMAL2 AU nonsynonymous SNV NM_020709 exon1 c.G1201A p.V401I 0.151757 0.3353 0.101088 0.1295 0.3147 Pathogenic 19_47030234_T->C 19 47030234 47030234 T C snp 739.77 0/1 99 87 58 29 0.33 exonic rs62136886 PPP5D1 AU synonymous SNV NM_001205281 exon2 c.A183G p.A61A 0.100639 0.0268 0.1348 0.0189 Uncertain 19_47030432_T->C 19 47030432 47030432 T C snp 2941.77 1/1 99 99 0 99 1.0 intronic rs3745795 PPP5D1 AU NM_001205281 exon3 c.45689+103T>C 0.676318 0.7331 Uncertain 19_47030535_A->G 19 47030535 47030535 A G snp 116.77 0/1 99 9 4 5 0.56 intronic rs12462517 PPP5D1 AU NM_001205281 exon3 c.45689+206A>G 0.340855 0.1538 Uncertain 19_47104535_T->A 19 47104535 47104535 T A snp 274.8 1/1 21 11 0 11 1.0 UTR5 rs150954567 CALM3 AU 0.171326 0.3671 ID=CR094059;DIS=Cardiomyopathy, hypertrophic, modifier of, association with;TAG=DFP;PUB=19429631 DFP Uncertain 19_47109011_T->C 19 47109011 47109011 T C snp 1191.77 1/1 87 34 0 34 1.0 intronic rs3729510 CALM3 AU NM_005184 exon2 c.4392-72T>C 0.843051 0.9484 0.750767 Uncertain 19_47111663_T->C 19 47111663 47111663 T C snp 5305.77 1/1 99 186 0 186 1.0 intronic rs3729760 CALM3 AU NM_005184 exon3 c.6906+66T>C 0.846446 0.9484 Uncertain 19_47112648_T->C 19 47112648 47112648 T C snp 2523.77 0/1 99 236 128 108 0.46 UTR3 rs10113 CALM3 AU 0.501398 0.5089 Uncertain 19_47124714_T->G 19 47124714 47124714 T G snp 1570.77 0/1 99 122 59 63 0.52 exonic rs2229129 PTGIR AU synonymous SNV NM_000960 exon3 c.A984C p.S328S 0.416933 0.3819 0.406337 0.4041 0.4027 Uncertain 19_47126614_C->G 19 47126614 47126614 C G snp 773.77 0/1 99 69 38 31 0.45 intronic rs12459883 PTGIR AU NM_000960 exon2 c.2178-100C>G 0.413339 0.38 0.5124 0.4961 Uncertain 19_47127324_C->G 19 47127324 47127324 C G snp 1025.77 0/1 99 87 48 39 0.45 exonic rs2229128 PTGIR AU synonymous SNV NM_000960 exon2 c.G159C p.V53V 0.227436 0.3313 0.203759 0.3581 0.5227 Uncertain 19_47137162_C->A 19 47137162 47137162 C A snp 239.77 0/1 55 11 2 9 0.82 downstream rs1005774 GNG8 AU 0.511581 0.5992 Uncertain 19_47137482_AT->- 19 47137482 47137483 AT - indel 1136.73 0/1 99 61 33 28 0.46 intronic rs3833245 GNG8 AU NM_033258 exon1 c.129+21_129+22delAT 0.236422 0.255 0.210013 0.2716 0.2911 Uncertain 19_47138014_C->G 19 47138014 47138014 C G snp 599.77 0/1 99 44 18 26 0.59 upstream rs3745623 GNG8 AU 0.105631 0.2103 Uncertain 19_47156193_T->C 19 47156193 47156193 T C snp 147.77 0/1 99 27 21 6 0.22 intronic rs569290386 DACT3 AU NM_145056 exon3 c.4497-42T>C 0.000798722 0.004 0.0003 0.0114 Uncertain 19_47177913_A->G 19 47177913 47177913 A G snp 6819.77 1/1 99 250 0 250 1.0 exonic rs314665 PRKD2 AU nonsynonymous SNV NM_001079882 exon17 c.T2033C p.V678A 1 1 0.999077 0.9996 1 1 T 0.000 P -0.939 T 0.0 T 0.0 T Pathogenic 19_47193850_T->C 19 47193850 47193850 T C snp 2768.77 1/1 99 89 0 89 1.0 intronic rs314671 PRKD2 AU NM_001079880 exon6 c.16077-6T>C 0.756989 0.5268 0.797555 0.7508 0.5638 Uncertain 19_47212593_A->G 19 47212593 47212593 A G snp 741.77 0/1 99 50 18 32 0.64 ncRNA_exonic rs10423365 MIR320E AU 0.460863 0.2599 0.5079 0.2615 Uncertain 19_47219335_G->A 19 47219335 47219335 G A snp 893.77 0/1 99 70 30 40 0.57 intronic rs190853109 PRKD2 AU NM_001079880 exon18 c.41608-52G>A 0.00359425 0.0159 Uncertain 19_47225790_-->T 19 47225790 47225790 - T indel 175.87 1/1 15 6 0 6 1.0 intronic rs35895334 STRN4 AU NM_001039877 exon4 c.1739+193insT 0.638778 0.4891 Uncertain 19_47228985_G->C 19 47228985 47228985 G C snp 899.77 1/1 69 24 0 24 1.0 intronic rs313844 STRN4 AU NM_001039877 exon9 c.5047+80G>C 0.986022 1 Uncertain 19_47228990_T->C 19 47228990 47228990 T C snp 760.77 1/1 57 22 0 22 1.0 intronic rs3848529 STRN4 AU NM_001039877 exon9 c.5047+85T>C 0.409545 0.3919 Uncertain 19_47236268_G->C 19 47236268 47236268 G C snp 2114.77 0/1 99 202 121 81 0.4 intronic rs11666600 STRN4 AU NM_001039877 exon14 c.12437-27G>C 0.358626 0.2609 0.324927 0.3470 0.2615 Uncertain 19_47239919_G->C 19 47239919 47239919 G C snp 609.77 0/1 99 65 41 24 0.37 intronic rs2270685 STRN4 AU NM_001039877 exon15 c.16221-160G>C 0.367812 0.2589 Uncertain 19_47241659_C->T 19 47241659 47241659 C T snp 225.77 0/1 99 17 9 8 0.47 intronic rs12976352 STRN4 AU NM_001039877 exon16 c.17636+165C>T 0.36881 0.2589 Uncertain 19_47249296_G->C 19 47249296 47249296 G C snp 205.77 0/1 99 13 6 7 0.54 intronic rs12984041 STRN4 AU NM_001039877 exon18 c.25547-109G>C 0.590855 0.3611 Uncertain 19_47280789_C->T 19 47280789 47280789 C T snp 224.84 1/1 18 8 1 7 0.88 intronic rs313835 SLC1A5 AU NM_001145145 exon3 c.1896+127C>T 0.763978 0.5347 Uncertain 19_47282162_G->A 19 47282162 47282162 G A snp 3072.77 0/1 99 246 117 129 0.52 exonic rs2070246 SLC1A5 AU synonymous SNV NM_001145145 exon4 c.C222T p.Y74Y 0.334065 0.2629 0.282485 0.2614 0.2672 Uncertain 19_47282240_A->G 19 47282240 47282240 A G snp 1135.77 0/1 99 109 63 46 0.42 intronic rs3745609 SLC1A5 AU NM_001145145 exon4 c.3399+75A>G 0.358227 0.2728 Uncertain 19_47287169_G->A 19 47287169 47287169 G A snp 1173.77 1/1 87 36 0 36 1.0 intronic rs313852 SLC1A5 AU NM_001145145 exon6 c.8587-184G>A 0.679912 0.5099 Uncertain 19_47291174_G->C 19 47291174 47291174 G C snp 1975.77 0/1 99 188 101 87 0.46 exonic rs3027956 SLC1A5 AU nonsynonymous SNV NM_005628 exon1 c.C49G p.P17A 0.200479 0.4821 0.069940 0.2796 0.4954 0.05 T 1.000 P -0.954 T 0.104 T 0.039 T Pathogenic 19_47524152_CC->- 19 47524152 47524153 CC - indel 371.73 1/1 33 14 0 14 1.0 UTR5 rs563212821 NPAS1 AU 0.676318 0.5923 Uncertain 19_47524456_-->A 19 47524456 47524456 - A indel 607.74 0/1 30 43 6 37 0.86 intronic rs150309227 NPAS1 AU NM_002517 exon1 c.122+30insA 0.008493 0.0166 0.0739 Uncertain 19_47524457_G->C 19 47524457 47524457 G C snp 866.77 1/1 25 42 3 39 0.93 intronic NPAS1 AU NM_002517 exon1 c.122+31G>C 0.0311 0.1232 Uncertain 19_47535795_T->G 19 47535795 47535795 T G snp 119.77 0/1 99 8 3 5 0.63 intronic rs2287841 NPAS1 AU NM_002517 exon4 c.11596-105T>G 0.14996 0.1815 Uncertain 19_47543774_G->A 19 47543774 47543774 G A snp 959.77 0/1 99 91 50 41 0.45 exonic rs3745615 NPAS1 AU synonymous SNV NM_002517 exon8 c.G1035A p.Q345Q 0.574681 0.7192 0.602570 0.6819 0.7189 Uncertain 19_47548327_A->T 19 47548327 47548327 A T snp 52.74 1/1 6 2 0 2 1.0 intronic rs10423289 NPAS1 AU NM_002517 exon11 c.24144-121A>T 0.875799 0.9633 Uncertain 19_47548678_G->A 19 47548678 47548678 G A snp 859.77 0/1 99 76 38 38 0.5 exonic rs889169 NPAS1 AU synonymous SNV NM_002517 exon11 c.G1542A p.A514A 0.454673 0.6925 0.476007 0.5898 0.7148 Uncertain 19_47549155_A->G 19 47549155 47549155 A G snp 1245.77 0/1 99 107 54 53 0.5 downstream rs889170 NPAS1 AU 0.514976 0.7024 Uncertain 19_47549156_T->C 19 47549156 47549156 T C snp 1290.77 0/1 99 108 54 54 0.5 downstream rs889171 NPAS1 AU 0.515375 0.7044 Uncertain 19_47549791_A->G 19 47549791 47549791 A G snp 840.77 0/1 99 75 35 40 0.53 intronic rs1862499 TMEM160 AU NM_017854 exon2 c.606-59A>G 0.470847 0.6974 Uncertain 19_47569919_C->T 19 47569919 47569919 C T snp 1896.77 0/1 99 149 74 75 0.5 exonic rs193061859 ZC3H4 AU synonymous SNV NM_015168 exon15 c.G3606A p.G1202G 0.00319489 0.0149 0.0026 0.0277 Uncertain 19_47584699_C->T 19 47584699 47584699 C T snp 708.77 1/1 54 18 0 18 1.0 intronic rs3745619 ZC3H4 AU NM_015168 exon5 c.15157-70C>T 0.483626 0.2877 Uncertain 19_47585517_G->C 19 47585517 47585517 G C snp 5341.77 1/1 99 199 0 199 1.0 exonic rs7250850 ZC3H4 AU synonymous SNV NM_015168 exon10 c.C1254G p.L418L 0.374601 0.2758 0.553190 0.5761 0.2747 Uncertain 19_47585698_G->C 19 47585698 47585698 G C snp 1130.77 1/1 84 34 0 34 1.0 intronic rs7251104 ZC3H4 AU NM_015168 exon6 c.15940+146G>C 0.414137 0.2758 Uncertain 19_47587772_G->A 19 47587772 47587772 G A snp 3707.77 1/1 99 133 0 133 1.0 intronic rs2303107 ZC3H4 AU NM_015168 exon7 c.18100+60G>A 0.375399 0.2758 Uncertain 19_47588202_G->T 19 47588202 47588202 G T snp 1757.77 1/1 99 51 1 50 0.98 intronic rs7248181 ZC3H4 AU NM_015168 exon8 c.18700-110G>T 0.375399 0.2758 Uncertain 19_47588325_G->A 19 47588325 47588325 G A snp 6723.77 1/1 99 250 0 250 1.0 exonic rs2287842 ZC3H4 AU synonymous SNV NM_015168 exon8 c.C1095T p.D365D 0.208267 0.2579 0.220440 0.2688 0.2620 Uncertain 19_47588500_A->C 19 47588500 47588500 A C snp 90.77 0/1 99 70 49 21 0.3 intronic rs571945834 ZC3H4 AU NM_015168 exon8 c.18840+48A>C 0.00978435 0.0004 0 Uncertain 19_47589895_T->C 19 47589895 47589895 T C snp 56.74 1/1 6 2 0 2 1.0 intronic rs2303108 ZC3H4 AU NM_015168 exon10 c.20183+100T>C 0.49381 0.2877 Uncertain 19_47597102_T->C 19 47597102 47597102 T C snp 267.8 1/1 21 8 0 8 1.0 intronic rs10408163 ZC3H4 AU NM_015168 exon12 c.27614-124T>C 0.375599 0.2748 Uncertain 19_47634313_T->G 19 47634313 47634313 T G snp 1190.77 1/1 84 51 0 51 1.0 intronic rs177918 SAE1 AU NM_005500 exon1 c.98+28T>G 0.922524 0.8909 0.926606 0.9006 0.9100 Uncertain 19_47731829_C->T 19 47731829 47731829 C T snp 183.77 0/1 99 18 9 9 0.5 intronic rs3810294 BBC3 AU NM_001127240 exon3 c.6746+126C>T 0.116813 0.0982 Uncertain 19_47761543_T->C 19 47761543 47761543 T C snp 1012.77 0/1 99 53 15 38 0.72 intronic rs2302985 CCDC9 AU 0.622204 0.6796 Uncertain 19_47761646_G->C 19 47761646 47761646 G C snp 3709.77 1/1 99 138 0 138 1.0 UTR5 rs12985905 CCDC9 AU 0.935503 1 0.879902 0.8822 0.9999 Uncertain 19_47763573_C->T 19 47763573 47763573 C T snp 2133.77 0/1 99 210 111 99 0.47 splicing rs45591932 CCDC9 AU NM_015603 exon4 c.1920-4C>T 0.397165 0.5903 0.297181 0.4608 0.6594 Pathogenic 19_47768128_G->C 19 47768128 47768128 G C snp 1316.77 0/1 99 107 53 54 0.5 exonic rs2032811 CCDC9 AU nonsynonymous SNV NM_015603 exon7 c.G645C p.E215D 0.638179 0.6825 0.549430 0.5912 0.6917 0.39 T 0.0 P -1.013 T 0.0 T 0.0 T Pathogenic 19_47769839_A->G 19 47769839 47769839 A G snp 154.77 0/1 99 12 5 7 0.58 intronic rs9304666 CCDC9 AU NM_015603 exon8 c.8210-28A>G 0.534145 0.6835 0.398972 0.5032 0.6489 Uncertain 19_47770015_A->C 19 47770015 47770015 A C snp 1912.77 0/1 99 179 92 87 0.49 exonic rs10413121 CCDC9 AU synonymous SNV NM_015603 exon8 c.A868C p.R290R 0.511981 0.6825 0.393165 0.5221 0.6803 Uncertain 19_47773786_A->G 19 47773786 47773786 A G snp 1112.77 0/1 99 97 52 45 0.46 intronic rs888838 CCDC9 AU NM_015603 exon10 c.12152-23A>G 0.51258 0.6835 0.396894 0.5009 0.6741 Uncertain 19_47773973_T->C 19 47773973 47773973 T C snp 235.77 0/1 94 12 3 9 0.75 intronic rs888837 CCDC9 AU NM_015603 exon10 c.12288+28T>C 0.512181 0.6825 0.383806 0.5186 0.6744 Uncertain 19_47774329_T->C 19 47774329 47774329 T C snp 1402.77 0/1 99 113 52 61 0.54 intronic rs73570553 CCDC9 AU NM_015603 exon11 c.12681-9T>C 0.400559 0.5923 0.294438 0.3958 0.6021 Uncertain 19_47774447_G->A 19 47774447 47774447 G A snp 1657.77 0/1 99 170 95 75 0.44 splicing rs66726054 CCDC9 AU NM_015603 exon11 c.12787+3G>A 0.51238 0.6825 0.396462 0.5521 0.6944 Pathogenic 19_47774572_C->T 19 47774572 47774572 C T snp 808.77 0/1 99 83 44 39 0.47 exonic rs60930438 CCDC9 AU synonymous SNV NM_015603 exon12 c.C1233T p.D411D 0.51238 0.6825 0.396416 0.5122 0.6765 Uncertain 19_47774772_T->C 19 47774772 47774772 T C snp 426.77 0/1 99 40 22 18 0.45 exonic rs888836 CCDC9 AU nonsynonymous SNV NM_015603 exon12 c.T1433C p.L478P 0.511981 0.6825 0.396663 0.5011 0.6732 0.67 T 0.0 P -0.999 T 0.0 T 0.0 T Pathogenic 19_47778221_A->C 19 47778221 47778221 A C snp 663.77 0/1 99 80 47 33 0.41 exonic rs10407367 INAFM1 AU synonymous SNV NM_178511 exon1 c.A45C p.G15G 0.635783 0.6845 0.6157 0.7054 Uncertain 19_47778412_G->T 19 47778412 47778412 G T snp 627.77 0/1 99 82 51 31 0.38 exonic rs1055218 INAFM1 AU nonsynonymous SNV NM_178511 exon1 c.G236T p.R79L 0.399161 0.5942 0.4323 0.6328 0.21 T 0.0 P -0.923 T 0.494 P 0.028 P Pathogenic 19_47813165_G->A 19 47813165 47813165 G A snp 4252.77 1/1 99 161 0 161 1.0 intronic rs11670330 C5AR1 AU NM_001736 exon1 c.3+10G>A 0.399361 0.4752 0.306397 0.3392 0.4925 Uncertain 19_47823038_G->A 19 47823038 47823038 G A snp 4717.77 1/1 99 172 0 172 1.0 splicing rs4467185 C5AR1 AU NM_001736 exon2 c.9886G>A 0.969449 1 0.967400 0.9817 0.9999 0.000 P -0.970 T 0.005 T 0.003 T Pathogenic 19_47823484_T->C 19 47823484 47823484 T C snp 6640.77 1/1 99 240 0 240 1.0 exonic rs4804049 C5AR1 AU unknown 0.988019 1 0.988390 0.9877 0.9999 Uncertain 19_47823871_G->T 19 47823871 47823871 G T snp 6922.77 1/1 99 248 0 248 1.0 exonic rs11880097 C5AR1 AU unknown 0.969449 1 0.967553 0.9817 0.9999 0.48 T 0.0 P -0.923 T 0.06 T 0.029 T Uncertain 19_47885180_A->G 19 47885180 47885180 A G snp 2251.77 0/1 99 167 80 87 0.52 intronic rs889167 DHX34 AU NM_014681 exon17 c.28949-56A>G 0.977636 0.9315 Uncertain 19_47916655_A->- 19 47916655 47916655 A - indel 59.73 0/1 91 13 6 7 0.54 intronic MEIS3 AU NM_020160 exon8 c.8240-1318delA Uncertain 19_47922426_G->A 19 47922426 47922426 G A snp 182.9 1/1 15 5 0 5 1.0 UTR5 rs62130535 MEIS3 AU 0.632388 0.7758 Uncertain 19_47933190_-->G 19 47933190 47933190 - G indel 1460.73 1/1 99 38 0 38 1.0 UTR3 rs142312177 SLC8A2 AU 1 1 1 1 Uncertain 19_47933257_G->A 19 47933257 47933257 G A snp 1776.77 1/1 99 70 0 70 1.0 UTR3 rs73940834 SLC8A2 AU 0.201078 0.1915 0.2867 0.3632 Uncertain 19_47935352_T->C 19 47935352 47935352 T C snp 4714.77 1/1 99 162 0 162 1.0 intronic rs4801722 SLC8A2 AU NM_015063 exon2 c.2078-71T>C 0.98742 1 0.9962 1 0.01 T 0.0 P -1.052 T 0.0 T 0.0 T Uncertain 19_47969394_G->A 19 47969394 47969394 G A snp 2747.77 0/1 99 250 137 113 0.45 exonic rs12459087 SLC8A2 AU synonymous SNV NM_015063 exon2 c.C267T p.I89I 0.0621006 0.0655 0.079348 0.0932 0.0741 Uncertain 19_47991441_C->G 19 47991441 47991441 C G snp 212.84 1/1 18 7 0 7 1.0 ncRNA_intronic rs830149 NAPA-AS1 AU 0.823882 0.9187 Uncertain 19_47992804_G->A 19 47992804 47992804 G A snp 153.77 0/1 63 7 2 5 0.71 ncRNA_intronic rs79523248 NAPA-AS1 AU 0.00499201 0.0169 Uncertain 19_48047730_T->A 19 48047730 48047730 T A snp 1990.77 0/1 99 174 90 84 0.48 exonic ZNF541 AU nonsynonymous SNV NM_001277075 exon3 c.A2056T p.T686S 0.03 T 1 N -1.027 T 0.041 T 0.019 T Pathogenic 19_48182508_G->A 19 48182508 48182508 G A snp 858.77 1/1 63 29 0 29 1.0 intronic rs2914439 GLTSCR1 AU NM_015711 exon6 c.5746-69G>A 0.442692 0.6339 Uncertain 19_48182568_C->T 19 48182568 48182568 C T snp 2164.77 1/1 99 85 0 85 1.0 intronic rs2911005 GLTSCR1 AU NM_015711 exon6 c.5746-9C>T 0.858027 0.9593 0.789347 0.7963 0.9741 Uncertain 19_48182946_T->C 19 48182946 48182946 T C snp 1548.77 1/1 99 53 0 53 1.0 exonic rs2911006 GLTSCR1 AU synonymous SNV NM_015711 exon6 c.T519C p.P173P 0.816094 0.9593 0.7899 0.9688 Uncertain 19_48183114_A->G 19 48183114 48183114 A G snp 1583.77 1/1 99 52 0 52 1.0 exonic rs2914438 GLTSCR1 AU synonymous SNV NM_015711 exon6 c.A687G p.T229T 0.816494 0.9593 0.808228 0.7959 0.9653 Uncertain 19_48184547_G->A 19 48184547 48184547 G A snp 1838.77 1/1 99 71 0 71 1.0 intronic rs889337 GLTSCR1 AU NM_015711 exon6 c.7702+14G>A 0.455272 0.6389 0.352941 0.5423 0.7245 Uncertain 19_48184643_G->- 19 48184643 48184643 G - indel 498.73 1/1 48 21 0 21 1.0 intronic rs58014830 GLTSCR1 AU NM_015711 exon6 c.7702+110delG 0.816494 0.9593 Uncertain 19_48185147_G->A 19 48185147 48185147 G A snp 515.77 1/1 39 20 0 20 1.0 intronic rs2303755 GLTSCR1 AU NM_015711 exon7 c.8401-85G>A 0.455871 0.6389 Uncertain 19_48197191_T->C 19 48197191 48197191 T C snp 50.74 1/1 6 2 0 2 1.0 intronic rs2974183 GLTSCR1 AU NM_015711 exon8 c.20540-180T>C 0.750799 0.9583 Uncertain 19_48197218_A->C 19 48197218 48197218 A C snp 259.8 1/1 21 8 0 8 1.0 intronic rs2914428 GLTSCR1 AU NM_015711 exon8 c.20540-153A>C 0.53754 0.6399 Uncertain 19_48198796_C->G 19 48198796 48198796 C G snp 1906.77 1/1 99 75 0 75 1.0 intronic rs2241613 GLTSCR1 AU NM_015711 exon10 c.21900+65C>G 0.459864 0.6399 Uncertain 19_48198817_T->A 19 48198817 48198817 T A snp 1788.77 1/1 99 68 0 68 1.0 intronic rs2241612 GLTSCR1 AU NM_015711 exon10 c.21900+86T>A 0.836462 0.9583 Uncertain 19_48198833_G->C 19 48198833 48198833 G C snp 1587.77 1/1 99 59 0 59 1.0 intronic rs2241611 GLTSCR1 AU NM_015711 exon10 c.21900+102G>C 0.457069 0.6409 Uncertain 19_48199477_A->G 19 48199477 48199477 A G snp 56.74 1/1 6 2 0 2 1.0 intronic rs10423076 GLTSCR1 AU NM_015711 exon11 c.22876-230A>G 0.738818 0.9583 Uncertain 19_48202102_G->T 19 48202102 48202102 G T snp 921.77 0/1 99 63 28 35 0.56 intronic rs78989030 GLTSCR1 AU NM_015711 exon12 c.25208+63G>T 0.0211661 0.1022 Uncertain 19_48202125_C->G 19 48202125 48202125 C G snp 2426.77 1/1 99 72 0 72 1.0 intronic rs7248050 GLTSCR1 AU NM_015711 exon12 c.25208+86C>G 0.854633 0.9593 Uncertain 19_48239557_T->G 19 48239557 48239557 T G snp 332.77 0/1 99 30 15 15 0.5 intronic rs11669035 EHD2 AU NM_014601 exon5 c.19756-68T>G 0.470447 0.5506 Uncertain 19_48244045_-->T 19 48244045 48244045 - T indel 325.73 0/1 99 15 6 9 0.6 intronic rs34197064 EHD2 AU NM_014601 exon6 c.24268-92insT 0.498203 0.5605 Uncertain 19_48244194_A->G 19 48244194 48244194 A G snp 1208.77 0/1 99 113 62 51 0.45 exonic rs7255434 EHD2 AU synonymous SNV NM_014601 exon6 c.A1137G p.L379L 0.498003 0.5605 0.542750 0.6293 0.5396 Uncertain 19_48244569_G->A 19 48244569 48244569 G A snp 2146.77 0/1 99 194 106 88 0.45 exonic rs3745758 EHD2 AU synonymous SNV NM_014601 exon6 c.G1512A p.E504E 0.452276 0.5536 0.449869 0.5390 0.5302 Uncertain 19_48244692_-->G 19 48244692 48244692 - G indel 282.73 0/1 99 29 18 11 0.38 UTR3 rs3833256 EHD2 AU 0.710264 0.5556 0.743433 0.7000 0.5301 Uncertain 19_48250320_G->C 19 48250320 48250320 G C snp 518.77 0/1 99 43 21 22 0.51 intronic rs2334293 GLTSCR2 AU NM_015710 exon2 c.1472+32G>C 0.51897 0.5546 0.563278 0.6340 0.5289 Uncertain 19_48250414_A->G 19 48250414 48250414 A G snp 40.77 0/1 69 5 3 2 0.4 intronic rs3745756 GLTSCR2 AU NM_015710 exon2 c.1472+126A>G 0.51877 0.5546 Uncertain 19_48253579_A->G 19 48253579 48253579 A G snp 2580.77 0/1 99 237 127 110 0.46 intronic rs3745754 GLTSCR2 AU NM_015710 exon3 c.4727+36A>G 0.692891 0.5536 0.731970 0.6962 0.5341 Uncertain 19_48253667_C->G 19 48253667 48253667 C G snp 653.77 0/1 99 54 32 22 0.41 intronic rs3786780 GLTSCR2 AU NM_015710 exon3 c.4727+124C>G 0.421526 0.5456 Uncertain 19_48254392_T->C 19 48254392 48254392 T C snp 836.77 0/1 99 82 41 41 0.5 intronic rs10402957 GLTSCR2 AU NM_015710 exon4 c.5548+28T>C 0.59385 0.5536 0.624307 0.6877 0.5615 Uncertain 19_48255804_A->G 19 48255804 48255804 A G snp 1188.77 0/1 99 98 42 56 0.57 exonic rs1042558 GLTSCR2 AU synonymous SNV NM_015710 exon6 c.A705G p.A235A 0.430186 0.5180 0.5137 Uncertain 19_48258551_T->C 19 48258551 48258551 T C snp 505.77 0/1 99 63 38 25 0.4 intronic rs10406879 GLTSCR2 AU NM_015710 exon9 c.9788-53T>C 0.71226 0.5546 Uncertain 19_48258578_A->G 19 48258578 48258578 A G snp 558.77 0/1 99 65 34 31 0.48 intronic rs10405135 GLTSCR2 AU NM_015710 exon9 c.9788-26A>G 0.713259 0.5546 0.791588 0.7140 0.5450 Uncertain 19_48258717_A->G 19 48258717 48258717 A G snp 117.78 0/1 25 6 1 5 0.83 exonic rs1804994 GLTSCR2 AU nonsynonymous SNV NM_015710 exon9 c.A1166G p.Q389R 0.712859 0.5546 0.7180 0.5643 0.96 T 0.000 P -0.979 T 0.0 T 0.002 T Pathogenic 19_48260079_T->C 19 48260079 48260079 T C snp 680.77 0/1 99 56 26 30 0.54 intronic rs889142 GLTSCR2 AU NM_015710 exon12 c.11185+78T>C 0.711661 0.5556 Uncertain 19_48282077_-->GCAGCGG 19 48282077 48282077 - GCAGCGG indel 3682.73 0/1 99 97 54 43 0.44 splicing rs111841672 SEPW1 AU NM_003009 exon1 c.29+6insGCAGCGG 0.599042 0.5258 0.639233 0.6453 0.4933 Pathogenic 19_48282172_T->C 19 48282172 48282172 T C snp 717.77 0/1 99 67 36 31 0.46 intronic rs1862485 SEPW1 AU NM_003009 exon1 c.29+101T>C 0.677516 0.5327 Uncertain 19_48284025_-->G 19 48284025 48284025 - G indel 1810.73 0/1 99 125 55 70 0.56 intronic rs34362700 SEPW1 AU NM_003009 exon2 c.1964+19insG 0.391973 0.3948 0.414909 0.5336 0.4729 Uncertain 19_48321645_-->TCCATCCA 19 48321645 48321645 - TCCATCCA indel 973.73 ./1 99 14 0 14 1.0 intergenic TPRX1 AU Uncertain 19_48321645_-->TCCA 19 48321645 48321645 - TCCA indel 973.73 ./1 99 14 0 14 1.0 intergenic rs201507309 TPRX1 AU Uncertain 19_48363390_C->A 19 48363390 48363390 C A snp 298.77 0/1 99 162 129 33 0.2 intergenic rs200234544 CRX AU,AD 0.444089 0.7649 0.4805 0.5641 0.42 T 0.0 P -0.139 T Uncertain 19_48374538_T->C 19 48374538 48374538 T C snp 44.74 1/1 6 2 0 2 1.0 UTR3 rs296366 SULT2A1 AU 0.868411 0.9187 Uncertain 19_48374551_C->G 19 48374551 48374551 C G snp 99.28 1/1 9 3 0 3 1.0 UTR3 rs296365 SULT2A1 AU 0.663538 0.7827 Uncertain 19_48382157_T->C 19 48382157 48382157 T C snp 345.78 1/1 27 9 0 9 1.0 intronic rs2547239 SULT2A1 AU NM_003167 exon3 c.7581-135T>C 0.9375 0.996 Uncertain 19_48382480_G->C 19 48382480 48382480 G C snp 2198.77 0/1 99 173 82 91 0.53 intronic rs2547238 SULT2A1 AU NM_003167 exon3 c.7676+93G>C 0.286142 0.506 Uncertain 19_48389425_A->G 19 48389425 48389425 A G snp 5260.77 1/1 99 190 0 190 1.0 exonic rs11083907 SULT2A1 AU synonymous SNV NM_003167 exon1 c.T90C p.F30F 0.973842 1 0.977318 0.9928 1 Uncertain 19_48495128_T->C 19 48495128 48495128 T C snp 125.77 0/1 99 26 18 8 0.31 intronic rs11671612 BSPH1 AU NM_001128326 exon6 c.15297-137T>C 0.643171 0.5605 Uncertain 19_48512121_G->A 19 48512121 48512121 G A snp 930.77 1/1 69 30 0 30 1.0 intronic rs7249129 ELSPBP1 AU NM_022142 exon2 c.70+127G>A 0.517772 0.7688 Uncertain 19_48522894_C->G 19 48522894 48522894 C G snp 333.78 1/1 27 10 0 10 1.0 intronic rs2115100 ELSPBP1 AU NM_022142 exon5 c.11051-81C>G 0.526757 0.7817 Uncertain 19_48523197_C->A 19 48523197 48523197 C A snp 386.77 1/1 30 14 0 14 1.0 intronic rs2303691 ELSPBP1 AU NM_022142 exon5 c.11210+63C>A 0.564497 0.7808 Uncertain 19_48525507_G->A 19 48525507 48525507 G A snp 4582.77 1/1 99 164 0 164 1.0 exonic rs2303690 ELSPBP1 AU nonsynonymous SNV NM_022142 exon6 c.G595A p.E199K 0.685304 0.8671 0.582654 0.6144 0.8729 1 T 0.0 P -0.931 T 0.011 T 0.014 T Pathogenic 19_48543774_C->G 19 48543774 48543774 C G snp 214.84 1/1 18 6 0 6 1.0 intronic rs8102084 CABP5 AU NM_019855 exon4 c.10048-87C>G 0.738419 0.8681 Uncertain 19_48543862_G->A 19 48543862 48543862 G A snp 1245.77 1/1 90 47 0 47 1.0 exonic rs8105198 CABP5 AU synonymous SNV NM_019855 exon3 c.C238T p.L80L 0.786741 0.8681 0.771029 0.8134 0.8674 Uncertain 19_48544753_G->A 19 48544753 48544753 G A snp 1746.77 1/1 99 63 0 63 1.0 intronic rs3745745 CABP5 AU NM_019855 exon5 c.11016-76G>A 0.901358 0.9236 0.902979 Uncertain 19_48551546_A->T 19 48551546 48551546 A T snp 946.77 1/1 69 32 0 32 1.0 UTR3 rs9226 PLA2G4C AU 0.69369 0.8978 0.638414 Uncertain 19_48558003_A->C 19 48558003 48558003 A C snp 381.77 1/1 30 10 0 10 1.0 intronic rs744399 PLA2G4C AU NM_001159323 exon3 c.1885-131A>C 0.901957 0.9147 Uncertain 19_48558388_T->C 19 48558388 48558388 T C snp 54.74 1/1 6 2 0 2 1.0 intronic rs1529479 PLA2G4C AU NM_001159323 exon3 c.2057+82T>C 0.910743 0.9147 Uncertain 19_48565468_G->T 19 48565468 48565468 G T snp 3204.83 1/1 99 112 0 112 1.0 intronic rs4802425 PLA2G4C AU NM_001159323 exon4 c.9160+59G>T 0.814497 0.8462 Uncertain 19_48565587_G->A 19 48565587 48565587 G A snp 262.8 1/1 21 8 0 8 1.0 intronic rs3826830 PLA2G4C AU NM_001159323 exon4 c.9160+178G>A 0.376198 0.6567 Uncertain 19_48570915_C->A 19 48570915 48570915 C A snp 40.77 0/1 33 3 1 2 0.67 intronic rs8100083 PLA2G4C AU NM_001159323 exon5 c.14798-132C>A 0.524161 0.4038 Uncertain 19_48571026_G->A 19 48571026 48571026 G A snp 787.77 0/1 99 62 29 33 0.53 intronic rs2307278 PLA2G4C AU NM_001159323 exon5 c.14798-21G>A 0.0998403 0.0208 0.142934 0.1398 0.0247 Uncertain 19_48588148_C->G 19 48588148 48588148 C G snp 1651.77 0/1 99 112 56 56 0.5 intronic rs431234 PLA2G4C AU NM_001159323 exon8 c.32066-167C>G 0.389177 0.5605 Uncertain 19_48593591_G->C 19 48593591 48593591 G C snp 3848.77 0/1 99 250 116 134 0.54 intronic rs3745741 PLA2G4C AU NM_001159323 exon10 c.37371-29G>C 0.318091 0.5585 0.218976 0.2720 0.5197 Uncertain 19_48598823_A->G 19 48598823 48598823 A G snp 1846.77 1/1 99 69 0 69 1.0 exonic rs156631 PLA2G4C AU nonsynonymous SNV NM_003706 exon7 c.T607C p.S203P 0.629193 0.8681 0.488851 0.4607 0.8645 0.59 T 0.000 P -1.057 T 0.0 T 0.0 T Pathogenic 19_48598916_A->G 19 48598916 48598916 A G snp 1632.77 1/1 99 66 0 66 1.0 intronic rs156632 PLA2G4C AU NM_001159323 exon11 c.42612+55A>G 0.999201 1 Uncertain 19_48598948_G->A 19 48598948 48598948 G A snp 518.77 0/1 99 45 23 22 0.49 intronic rs3745738 PLA2G4C AU NM_001159323 exon11 c.42612+87G>A 0.0403355 0.0377 Uncertain 19_48601350_T->C 19 48601350 48601350 T C snp 1073.77 1/1 78 35 0 35 1.0 intronic rs251685 PLA2G4C AU NM_001159323 exon12 c.45146-45T>C 0.6252 0.7411 0.626019 0.6100 0.7349 Uncertain 19_48601454_T->C 19 48601454 48601454 T C snp 3441.77 1/1 99 128 0 128 1.0 exonic rs251684 PLA2G4C AU synonymous SNV NM_003706 exon6 c.A510G p.P170P 0.663938 0.7411 0.651469 0.6131 0.7357 Uncertain 19_48601528_G->T 19 48601528 48601528 G T snp 2635.77 1/1 99 99 0 99 1.0 intronic rs251683 PLA2G4C AU NM_001159323 exon12 c.45267+12G>T 0.660343 0.7341 0.649008 0.6109 0.7336 Uncertain 19_48601593_-->T 19 48601593 48601593 - T indel 378.52 0/1 7 27 2 25 0.93 intronic rs11432234 PLA2G4C AU NM_001159323 exon12 c.45267+77insT 0.638379 0.7024 Uncertain 19_48601660_A->G 19 48601660 48601660 A G snp 56.74 1/1 6 2 0 2 1.0 intronic rs251681 PLA2G4C AU NM_001159323 exon12 c.45267+144A>G 0.682109 0.7262 Uncertain 19_48602948_T->C 19 48602948 48602948 T C snp 1981.77 1/1 99 69 0 69 1.0 exonic rs2303744 PLA2G4C AU nonsynonymous SNV NM_003706 exon5 c.A427G p.I143V 0.378794 0.6171 0.273335 0.2781 0.5954 1 T 0.0 P -0.945 T 0.015 T 0.005 T Pathogenic 19_48618711_A->G 19 48618711 48618711 A G snp 56.74 1/1 6 2 0 2 1.0 UTR3 rs251692 LIG1 AU 0.718251 0.875 Uncertain 19_48621036_C->G 19 48621036 48621036 C G snp 2306.77 1/1 99 88 0 88 1.0 exonic rs13436 LIG1 AU synonymous SNV NM_000234 exon26 c.G2442C p.A814A 0.544529 0.748 0.459480 0.4747 0.7531 Uncertain 19_48622427_A->G 19 48622427 48622427 A G snp 1815.77 1/1 99 64 0 64 1.0 exonic rs20581 LIG1 AU synonymous SNV NM_000234 exon25 c.T2406C p.D802D 0.718051 0.874 0.638042 0.6228 0.8692 Uncertain 19_48622483_A->G 19 48622483 48622483 A G snp 2204.77 1/1 99 88 1 87 0.99 intronic rs156647 LIG1 AU NM_000234 exon4 c.3542+36A>G 0.551518 0.748 0.461378 0.4907 0.7586 Uncertain 19_48622545_A->G 19 48622545 48622545 A G snp 734.77 0/1 99 75 44 31 0.41 intronic rs274883 LIG1 AU NM_000234 exon4 c.3542+98A>G 0.407947 0.3135 Uncertain 19_48624625_C->T 19 48624625 48624625 C T snp 1771.77 1/1 99 69 0 69 1.0 intronic rs153023 LIG1 AU NM_000234 exon5 c.5674+46C>T 0.528355 0.749 0.438862 0.4895 0.7591 Uncertain 19_48626604_G->A 19 48626604 48626604 G A snp 1310.77 0/1 99 118 57 61 0.52 intronic rs3731007 LIG1 AU NM_000234 exon7 c.7670+29G>A 0.191693 0.1855 0.147778 0.1082 0.1761 Uncertain 19_48630701_CC->- 19 48630701 48630702 CC - indel 2812.73 1/1 99 67 0 67 1.0 intronic rs61230848 LIG1 AU NM_000234 exon8 c.11700+96_11700+97delCC 0.704273 0.875 Uncertain 19_48630763_G->C 19 48630763 48630763 G C snp 387.77 1/1 30 10 0 10 1.0 intronic rs156640 LIG1 AU NM_000234 exon8 c.11700+158G>C 0.549121 0.748 Uncertain 19_48631408_C->T 19 48631408 48631408 C T snp 332.77 0/1 99 20 7 13 0.65 intronic rs156641 LIG1 AU NM_000234 exon9 c.12372+131C>T 0.320288 0.5605 Uncertain 19_48634319_T->A 19 48634319 48634319 T A snp 2424.77 1/1 99 85 0 85 1.0 intronic rs392891 LIG1 AU NM_000234 exon10 c.15427-13T>A 0.549121 0.748 0.464632 0.4684 0.7525 Uncertain 19_48634668_A->G 19 48634668 48634668 A G snp 133.03 1/1 12 4 0 4 1.0 intronic rs175627 LIG1 AU NM_000234 exon10 c.15523+240A>G 0.715056 0.874 Uncertain 19_48636534_T->G 19 48636534 48636534 T G snp 43.77 0/1 66 4 2 2 0.5 intronic rs2288883 LIG1 AU NM_000234 exon11 c.17449+180T>G 0.324081 0.5615 Uncertain 19_48639235_G->A 19 48639235 48639235 G A snp 113.77 0/1 99 10 5 5 0.5 intronic rs2288882 LIG1 AU NM_000234 exon14 c.20385-55G>A 0.324281 0.5615 Uncertain 19_48639472_T->C 19 48639472 48639472 T C snp 1774.77 0/1 99 155 76 79 0.51 intronic rs3730976 LIG1 AU NM_000234 exon14 c.20477+90T>C 0.323482 0.5605 Uncertain 19_48640234_C->G 19 48640234 48640234 C G snp 1799.77 0/1 99 146 74 72 0.49 intronic rs2288880 LIG1 AU NM_000234 exon15 c.21359-30C>G 0.183706 0.1865 0.136860 0.1432 0.2231 Uncertain 19_48641217_C->T 19 48641217 48641217 C T snp 413.77 0/1 99 18 6 12 0.67 intronic LIG1 AU NM_000234 exon16 c.22040+272C>T Uncertain 19_48643124_T->C 19 48643124 48643124 T C snp 741.77 0/1 99 56 27 29 0.52 intronic rs2304136 LIG1 AU NM_000234 exon17 c.24322-103T>C 0.220647 0.1875 Uncertain 19_48646732_A->G 19 48646732 48646732 A G snp 315.77 0/1 99 18 7 11 0.61 intronic rs3730938 LIG1 AU NM_000234 exon18 c.27894-67A>G 0.322684 0.5605 0.286027 Uncertain 19_48646883_T->C 19 48646883 48646883 T C snp 5354.77 1/1 99 195 0 195 1.0 intronic rs2288878 LIG1 AU NM_000234 exon18 c.27951+27T>C 0.694888 0.875 0.611641 0.5835 0.8751 Uncertain 19_48646993_C->T 19 48646993 48646993 C T snp 5205.77 1/1 99 192 0 192 1.0 intronic rs415465 LIG1 AU NM_000234 exon18 c.27951+137C>T 1 1 Uncertain 19_48654553_G->T 19 48654553 48654553 G T snp 964.77 0/1 99 103 54 49 0.48 exonic rs20580 LIG1 AU synonymous SNV NM_000234 exon7 c.C510A p.A170A 0.532947 0.6885 0.506612 0.4875 0.6991 Uncertain 19_48657029_A->C 19 48657029 48657029 A C snp 113.78 0/1 27 5 1 4 0.8 intronic rs146296744 LIG1 AU NM_000234 exon23 c.38223-99A>C Uncertain 19_48660244_AAGGGGCA->- 19 48660244 48660251 AAGGGGCA - indel 920.73 0/1 99 24 15 9 0.38 intronic rs3730867 LIG1 AU NM_000234 exon24 c.41365-26_41365-19delAAGGGGCA 0.510383 0.6845 0.437714 0.4760 0.6881 Uncertain 19_48660445_T->C 19 48660445 48660445 T C snp 323.77 0/1 99 20 8 12 0.6 intronic rs274862 LIG1 AU NM_000234 exon24 c.41492+48T>C 0.323083 0.5635 0.286252 0.3580 0.5783 Uncertain 19_48664798_G->A 19 48664798 48664798 G A snp 965.77 0/1 99 77 39 38 0.49 intronic rs3730862 LIG1 AU NM_000234 exon25 c.45859+34G>A 0.320887 0.5565 0.283869 0.3568 0.5774 Uncertain 19_48668709_A->G 19 48668709 48668709 A G snp 544.77 0/1 99 38 18 20 0.53 intronic rs3730850 LIG1 AU NM_000234 exon27 c.49901-97A>G 0.560104 0.6865 Uncertain 19_48668795_G->A 19 48668795 48668795 G A snp 988.77 0/1 99 115 70 45 0.39 intronic rs3730849 LIG1 AU NM_000234 exon27 c.49901-11G>A 0.317292 0.5506 0.284638 0.3548 0.5699 Uncertain 19_48668914_T->C 19 48668914 48668914 T C snp 1172.77 0/1 99 102 48 54 0.53 intronic rs439132 LIG1 AU NM_000234 exon27 c.49975+34T>C 0.150559 0.1806 0.083881 0.0588 0.1707 Uncertain 19_48668966_-->A 19 48668966 48668966 - A indel 326.73 0/1 99 44 12 32 0.73 intronic rs34824188 LIG1 AU NM_000234 exon27 c.49975+86insA 0.358626 0.5079 0.4032 0.4788 Uncertain 19_48673458_G->A 19 48673458 48673458 G A snp 1872.77 0/1 99 176 95 81 0.46 intronic rs3730840 LIG1 AU NM_000234 exon28 c.54592-39G>A 0.318291 0.5486 0.3242 0.5652 Uncertain 19_48695381_A->G 19 48695381 48695381 A G snp 1248.77 1/1 90 39 0 39 1.0 intronic rs409135 C19orf68 AU NM_199341 exon4 c.22850-2528A>G 0.424321 0.5188 Uncertain 19_48707401_G->T 19 48707401 48707401 G T snp 346.78 1/1 27 12 0 12 1.0 intergenic rs3745717 C19orf68 AU 0.339257 0.5357 Uncertain 19_48707665_G->A 19 48707665 48707665 G A snp 687.77 1/1 51 23 0 23 1.0 intergenic rs2015209 C19orf68 AU 0.394169 0.5288 Uncertain 19_48707714_A->T 19 48707714 48707714 A T snp 249.8 1/1 21 7 0 7 1.0 intergenic rs2015211 C19orf68 AU 0.394169 0.5298 Uncertain 19_48707740_G->A 19 48707740 48707740 G A snp 133.03 1/1 12 4 0 4 1.0 intergenic rs2015216 C19orf68 AU 0.392173 0.5298 Uncertain 19_48715269_T->C 19 48715269 48715269 T C snp 1284.77 1/1 93 46 0 46 1.0 intronic rs2008521 CARD8 AU NM_001184901 exon1 c.266+37T>C 0.816893 0.7589 0.851177 0.8695 0.7922 Uncertain 19_48734018_G->A 19 48734018 48734018 G A snp 4183.77 1/1 99 151 0 151 1.0 intronic rs2304134 CARD8 AU NM_001184902 exon5 c.15410-15G>A 0.313898 0.4851 0.290878 0.3309 0.4716 Uncertain 19_48734132_T->C 19 48734132 48734132 T C snp 2725.77 0/1 99 239 123 116 0.49 exonic rs759641064 CARD8 AU nonsynonymous SNV NM_014959 exon7 c.A524G p.H175R 3.312e-05 0.0005 0.03 T 1 N -1.046 T 0.625 T 0.246 P Pathogenic 19_48735287_A->G 19 48735287 48735287 A G snp 834.78 1/1 24 31 1 30 0.97 intronic rs4802448 CARD8 AU NM_001184902 exon6 c.16444+220A>G 0.734625 0.7292 0.7147 0.7829 Uncertain 19_48737449_G->C 19 48737449 48737449 G C snp 50.74 1/1 6 2 0 2 1.0 intronic rs9304675 CARD8 AU NM_001184902 exon8 c.19036-210G>C 0.316094 0.505 Uncertain 19_48737706_A->T 19 48737706 48737706 A T snp 6144.77 1/1 99 241 4 237 0.98 exonic rs2043211 CARD8 AU nonsynonymous SNV NM_014959 exon4 c.T154A p.F52I 0.316494 0.5069 0.288175 0.3264 0.4986 1 T 1.000 P -0.928 T 0.662 T 0.05 P Pathogenic 19_48744345_T->C 19 48744345 48744345 T C snp 759.77 0/1 99 59 28 31 0.53 intronic rs16981853 CARD8 AU NM_001184902 exon10 c.25697+25T>C 0.309305 0.506 Uncertain 19_48783243_C->T 19 48783243 48783243 C T snp 588.77 1/1 45 15 0 15 1.0 intronic rs1504520 ZNF114 AU NM_153608 exon4 c.9+178C>T 0.417532 0.5169 Uncertain 19_48800338_A->G 19 48800338 48800338 A G snp 1603.77 0/1 99 130 61 69 0.53 exonic rs7252988 CCDC114 AR synonymous SNV NM_144577 exon14 c.T1908C p.S636S 0.464657 0.2619 0.622559 0.5703 0.2670 Uncertain 19_48800914_G->A 19 48800914 48800914 G A snp 1423.77 0/1 99 113 54 59 0.52 exonic rs35461177 CCDC114 AR nonsynonymous SNV NM_144577 exon13 c.C1403T p.P468L 0.167532 0.1329 0.232354 0.2887 0.1647 0.02 T 0.279 P -0.927 T 0.606 T 0.077 P Pathogenic 19_48807401_C->T 19 48807401 48807401 C T snp 306.77 0/1 99 25 14 11 0.44 splicing rs56177753 CCDC114 AR NM_144577 exon8 c.7165+4C>T 0.168131 0.1339 0.243303 0.2441 0.1435 Pathogenic 19_48814737_G->A 19 48814737 48814737 G A snp 74.77 0/1 99 9 6 3 0.33 intronic rs76390522 CCDC114 AR NM_144577 exon10 c.14577-72G>A 0.126398 0.2034 Uncertain 19_48823545_G->A 19 48823545 48823545 G A snp 1083.77 1/1 78 42 0 42 1.0 upstream rs8107712 CCDC114 AR 0.347244 0.3433 0.4116 0.3586 Uncertain 19_48830286_T->A 19 48830286 48830286 T A snp 674.77 1/1 51 22 0 22 1.0 intronic rs10415654 EMP3 AU NM_001425 exon2 c.78+107T>A 0.470248 0.3482 Uncertain 19_48832554_A->G 19 48832554 48832554 A G snp 2478.77 1/1 99 80 0 80 1.0 intronic rs8102349 EMP3 AU NM_001425 exon4 c.2507-54A>G 0.469449 0.3482 Uncertain 19_48833800_C->T 19 48833800 48833800 C T snp 198.84 1/1 18 6 0 6 1.0 UTR3 rs8355 EMP3 AU 0.469848 0.3482 0.5386 0.4370 Uncertain 19_48833806_C->G 19 48833806 48833806 C G snp 80.28 1/1 9 3 0 3 1.0 UTR3 rs11665 EMP3 AU 0.353235 0.3482 0.4780 0.4372 Uncertain 19_48836673_G->T 19 48836673 48836673 G T snp 1791.77 1/1 99 68 0 68 1.0 exonic rs3826828 TMEM143 AU synonymous SNV NM_001303540 exon6 c.C883A p.R295R 0.335463 0.3482 0.389897 0.3908 0.3340 Uncertain 19_48837361_G->A 19 48837361 48837361 G A snp 1756.77 0/1 99 170 86 84 0.49 exonic rs778555617 TMEM143 AU synonymous SNV NM_001303540 exon5 c.C769T p.L257L 0.0002 0.0028 Uncertain 19_48845777_G->A 19 48845777 48845777 G A snp 853.77 0/1 99 54 25 29 0.54 intronic rs4275952 TMEM143 AU NM_001303538 exon3 c.9311-9G>A 0.151957 0.1409 0.218909 0.3125 0.2335 Uncertain 19_48846476_G->A 19 48846476 48846476 G A snp 54.74 1/1 6 2 0 2 1.0 intronic rs3760790 TMEM143 AU NM_001303538 exon4 c.10102-101G>A 0.205671 0.2063 Uncertain 19_48848702_C->T 19 48848702 48848702 C T snp 217.77 0/1 99 19 11 8 0.42 intronic rs17361438 TMEM143 AU NM_001303538 exon5 c.12136+91C>T 0.154553 0.1369 Uncertain 19_48848712_T->C 19 48848712 48848712 T C snp 151.77 0/1 99 10 5 5 0.5 intronic rs7249843 TMEM143 AU NM_001303538 exon5 c.12136+101T>C Uncertain 19_48863386_C->T 19 48863386 48863386 C T snp 581.77 0/1 99 67 38 29 0.43 exonic rs438767 TMEM143 AU synonymous SNV NM_001303539 exon3 c.G312A p.S104S 0.538538 0.6052 0.530986 0.5965 0.6211 Uncertain 19_48866457_G->C 19 48866457 48866457 G C snp 122.77 0/1 99 20 14 6 0.3 intronic rs73049222 TMEM143 AU NM_001303538 exon6 c.30072-90G>C 0.153754 0.2232 Uncertain 19_48866482_C->T 19 48866482 48866482 C T snp 316.77 0/1 99 33 20 13 0.39 intronic rs3826824 TMEM143 AU NM_001303538 exon6 c.30072-65C>T 0.122005 0.2232 Uncertain 19_48866842_T->G 19 48866842 48866842 T G snp 728.77 0/1 99 74 45 29 0.39 intronic rs576359380 TMEM143 AU NM_001303538 exon6 c.30313+54T>G 0.000998403 0.005 0.0005 0.0066 Uncertain 19_48866976_G->T 19 48866976 48866976 G T snp 822.77 0/1 99 65 37 28 0.43 intronic TMEM143 AU NM_001303538 exon7 c.30679-178G>T Uncertain 19_48876661_A->G 19 48876661 48876661 A G snp 1152.77 0/1 99 76 37 39 0.51 intronic rs2569713 SYNGR4 AU NM_012451 exon3 c.7674-112A>G 0.709665 0.8065 Uncertain 19_48893820_-->AGAGAGAGAGAG 19 48893820 48893820 - AGAGAGAGAGAG indel 762.73 0/1 99 24 10 14 0.58 intronic rs575099358 KDELR1 AU NM_006801 exon4 c.7232+39insAGAGAGAGAGAG 0.23143 0.2817 0.0612 0.1474 Uncertain 19_48918157_C->T 19 48918157 48918157 C T snp 1688.77 0/1 99 145 72 73 0.5 exonic rs3786746 GRIN2D AU synonymous SNV NM_000836 exon6 c.C1449T p.C483C 0.0748802 0.245 0.024988 0.0530 0.2479 Uncertain 19_48922773_T->- 19 48922773 48922773 T - indel 229.73 0/1 76 25 5 20 0.8 intronic rs11302654 GRIN2D AU NM_000836 exon9 c.21192-68delT Uncertain 19_48945880_T->C 19 48945880 48945880 T C snp 211.77 0/1 99 33 22 11 0.33 exonic rs62130268 GRIN2D AU synonymous SNV NM_000836 exon13 c.T2697C p.A899A 0.747204 0.6548 0.894205 0.8213 0.6694 Uncertain 19_48946405_A->G 19 48946405 48946405 A G snp 115.77 0/1 99 12 7 5 0.42 exonic rs112893228 GRIN2D AU synonymous SNV NM_000836 exon13 c.A3222G p.P1074P 0.728634 0.619 0.9 . Uncertain 19_48949286_G->T 19 48949286 48949286 G T snp 511.77 0/1 99 40 18 22 0.55 exonic rs1643487 GRWD1 AU synonymous SNV NM_031485 exon1 c.G24T p.R8R 0.720248 0.6131 0.816237 0.8471 0.6532 Uncertain 19_48949766_C->G 19 48949766 48949766 C G snp 1842.77 0/1 99 183 107 76 0.42 intronic rs929743 GRWD1 AU NM_031485 exon2 c.497+7C>G 0.663538 0.5585 0.758342 0.8042 0.5519 Uncertain 19_48954571_A->T 19 48954571 48954571 A T snp 291.77 0/1 99 21 10 11 0.52 intronic rs1799274 GRWD1 AU NM_031485 exon6 c.5226+83A>T 0.770168 0.6121 Uncertain 19_48977019_C->T 19 48977019 48977019 C T snp 1087.77 0/1 99 108 67 41 0.38 intronic rs1799258 CYTH2 AU NM_004228 exon6 c.4397-142C>T 0.831869 0.5119 Uncertain 19_48981933_T->C 19 48981933 48981933 T C snp 44.77 0/1 31 3 1 2 0.67 intronic rs7257081 CYTH2 AU NM_004228 exon11 c.9085+84T>C 0.832069 0.5129 Uncertain 19_49055383_C->T 19 49055383 49055383 C T snp 303.77 0/1 99 20 9 11 0.55 upstream rs556351967 SULT2B1 AU 0.000199681 0.001 Uncertain 19_49090368_-->A 19 49090368 49090368 - A indel 198.74 1/1 29 10 0 10 1.0 intronic rs34482710 SULT2B1 AU NM_177973 exon3 c.34976-117insA Uncertain 19_49096065_C->T 19 49096065 49096065 C T snp 1208.77 0/1 99 164 104 60 0.37 exonic rs2302948 SULT2B1 AU synonymous SNV NM_177973 exon5 c.C637T p.L213L 0.167332 0.0883 0.214604 0.2676 0.1740 Uncertain 19_49102718_G->A 19 49102718 49102718 G A snp 1422.77 0/1 99 99 44 55 0.56 downstream rs117988024 SULT2B1 AU 0.0878594 0.25 Uncertain 19_49102782_G->A 19 49102782 49102782 G A snp 958.77 1/1 72 31 0 31 1.0 downstream rs10410524 SULT2B1 AU 0.442891 0.4663 Uncertain 19_49102814_G->A 19 49102814 49102814 G A snp 349.78 1/1 27 9 0 9 1.0 downstream rs10415861 SULT2B1 AU 0.303115 0.3353 Uncertain 19_49106995_G->A 19 49106995 49106995 G A snp 997.77 0/1 99 72 33 39 0.54 exonic rs3745728 FAM83E AU nonsynonymous SNV NM_017708 exon4 c.C932T p.P311L 0.182508 0.3333 0.101575 0.2713 0.4739 0.21 T 0.883 P -0.973 T 0.997 D 0.716 D Pathogenic 19_49113029_G->C 19 49113029 49113029 G C snp 270.77 0/1 46 11 2 9 0.82 intronic rs2617803 FAM83E AU NM_017708 exon3 c.8767-103G>C 0.211462 0.3353 Uncertain 19_49114236_T->G 19 49114236 49114236 T G snp 925.77 1/1 69 24 0 24 1.0 intronic rs454715 FAM83E AU NM_017708 exon4 c.9739+132T>G 0.824081 0.995 Uncertain 19_49116076_C->G 19 49116076 49116076 C G snp 245.8 1/1 21 7 0 7 1.0 intronic rs2617801 FAM83E AU NM_017708 exon5 c.11799-88C>G 0.840455 0.995 Uncertain 19_49116134_T->G 19 49116134 49116134 T G snp 1045.77 1/1 75 35 0 35 1.0 intronic rs2617800 FAM83E AU NM_017708 exon5 c.11799-30T>G 0.986422 1 0.966856 0.9746 0.9970 Uncertain 19_49116359_T->C 19 49116359 49116359 T C snp 2387.77 1/1 99 85 0 85 1.0 exonic rs447802 FAM83E AU nonsynonymous SNV NM_017708 exon1 c.A271G p.T91A 0.550919 0.7431 0.3860 0.7267 1 T 0.0 P -0.944 T 0.0 T 0.002 T Pathogenic 19_49116438_A->G 19 49116438 49116438 A G snp 682.77 0/1 99 84 51 33 0.39 exonic rs376524 FAM83E AU synonymous SNV NM_017708 exon1 c.T192C p.V64V 0.334265 0.4702 0.228047 0.2860 0.4592 Uncertain 19_49116555_A->G 19 49116555 49116555 A G snp 1056.77 1/1 75 44 0 44 1.0 exonic rs368654 FAM83E AU synonymous SNV NM_017708 exon1 c.T75C p.F25F 0.886981 0.997 0.792456 0.8019 0.9977 Uncertain 19_49119900_-->CAGCA 19 49119900 49119900 - CAGCA indel 1379.73 1/1 66 25 1 24 0.96 intronic rs138568775 RPL18 AU NM_000979 exon4 c.1354-82insCAGCA 0.151957 0.2609 Uncertain 19_49120434_C->T 19 49120434 49120434 C T snp 2863.77 0/1 99 202 77 125 0.62 intronic rs369880 RPL18 AU NM_000979 exon5 c.1944-138C>T 0.225439 0.3859 0.2421 0.4397 Uncertain 19_49122248_T->C 19 49122248 49122248 T C snp 1442.77 1/1 99 53 0 53 1.0 intronic rs3094287 RPL18 AU NM_000979 exon7 c.3769-149T>C 0.554912 0.7401 Uncertain 19_49131764_-->AG 19 49131764 49131764 - AG indel 7869.73 1/1 99 169 0 169 1.0 intronic rs34630951 SPHK2 AU NM_020126 exon7 c.8166-173insAG 0.592452 0.7431 0.426626 0.4155 0.7306 Uncertain 19_49132634_G->A 19 49132634 49132634 G A snp 1140.77 0/1 99 88 41 47 0.53 exonic rs3745733 SPHK2 AU synonymous SNV NM_001204160 exon6 c.G1461A p.L487L 0.0756789 0.0714 0.104988 0.1286 0.0795 Uncertain 19_49133761_C->T 19 49133761 49133761 C T snp 1019.77 0/1 99 98 56 42 0.43 downstream rs2301139 DBP AU 0.131789 0.2857 0.1391 0.2034 Uncertain 19_49134388_G->C 19 49134388 49134388 G C snp 348.77 0/1 99 31 14 17 0.55 intronic rs3745734 DBP AU NM_001352 exon1 c.216+79G>C 0.229034 0.2827 Uncertain 19_49136651_G->A 19 49136651 49136651 G A snp 402.77 0/1 99 37 21 16 0.43 intronic rs12608544 DBP AU NM_001352 exon2 c.2607-49G>A 0.17512 0.2867 0.096878 0.0973 0.2855 Uncertain 19_49138655_TT->- 19 49138655 49138656 TT - indel 2222.73 0/1 99 128 71 57 0.45 intronic rs71854141 DBP AU NM_001352 exon3 c.4743-181_4743-180delTT 0.1035 0.2378 Uncertain 19_49138657_-->AAGACCAA 19 49138657 49138657 - AAGACCAA indel 5136.73 0/1 99 122 73 49 0.4 intronic rs572773395 DBP AU NM_001352 exon3 c.4743-179insAAGACCAA 0.1023 0.2284 Uncertain 19_49141532_T->C 19 49141532 49141532 T C snp 46.77 0/1 75 7 3 4 0.57 ncRNA_intronic rs3848543 SEC1P AU 0.774561 0.628 0.8154 0.6932 Uncertain 19_49143025_T->C 19 49143025 49143025 T C snp 1130.77 0/1 99 81 38 43 0.53 ncRNA_intronic rs2303147 SEC1P AU 0.774561 0.629 0.831924 0.8140 0.6457 Uncertain 19_49147494_G->C 19 49147494 49147494 G C snp 46.77 0/1 33 3 1 2 0.67 ncRNA_intronic rs7255644 SEC1P AU 0.13099 0.2857 Uncertain 19_49164740_T->C 19 49164740 49164740 T C snp 88.28 1/1 9 3 0 3 1.0 ncRNA_intronic rs281391 SEC1P AU 0.606829 0.6329 Uncertain 19_49164952_A->G 19 49164952 49164952 A G snp 1708.77 1/1 99 63 0 63 1.0 exonic rs281392 NTN5 AU synonymous SNV NM_145807 exon7 c.T1452C p.S484S 0.532947 0.5625 0.572665 0.6013 0.5535 Uncertain 19_49166875_G->A 19 49166875 49166875 G A snp 1788.77 1/1 99 54 0 54 1.0 ncRNA_intronic rs371690 SEC1P AU 0.528155 0.5615 Uncertain 19_49168182_T->C 19 49168182 49168182 T C snp 215.77 0/1 91 11 4 7 0.64 ncRNA_intronic rs373002 SEC1P AU 0.330671 0.0565 Uncertain 19_49183226_G->A 19 49183226 49183226 G A snp 1261.77 0/1 99 97 46 51 0.53 ncRNA_intronic rs3826837 SEC1P AU 0.0974441 0.3492 Uncertain 19_49183705_G->A 19 49183705 49183705 G A snp 5651.77 1/1 99 210 0 210 1.0 ncRNA_exonic rs3826846 SEC1P AU 0.505391 0.5506 0.5939 0.5546 Uncertain 19_49206603_C->T 19 49206603 49206603 C T snp 3607.77 1/1 99 137 6 131 0.96 exonic rs281377 FUT2 AU synonymous SNV NM_000511 exon2 c.C390T p.N130N 0.496006 0.8452 0.378326 0.4882 0.8691 Uncertain 19_49206631_A->T 19 49206631 49206631 A T snp 3570.77 1/1 99 129 0 129 1.0 exonic rs1047781 FUT2 AU nonsynonymous SNV NM_000511 exon2 c.A418T p.I140F 0.0902556 0.4395 0.000692 0.0351 0.4681 0 D 0.993 P -1.606 T 0.978 D 0.828 D CLINSIG=non-pathogenic;CLNDBN=SECRETOR/NONSECRETOR_POLYMORPHISM\x2c_JAPANESE_TYPE;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000013811.1;CLNDSDB=.;CLNDSDBID=. ID=CM960663;DIS=Fucosyltransferase deficiency;TAG=DM;PUB=8755920 DM Pathogenic 19_49216926_A->G 19 49216926 49216926 A G snp 1524.77 0/1 99 122 59 63 0.52 intronic rs281384 MAMSTR AU NM_001130915 exon2 c.449-46A>G 0.879193 0.8611 0.943641 0.9006 0.8803 Uncertain 19_49217261_A->G 19 49217261 49217261 A G snp 386.77 0/1 99 37 23 14 0.38 exonic rs281385 MAMSTR AU synonymous SNV NM_001297753 exon5 c.T261C p.R87R 0.79393 0.8621 0.835667 0.8272 0.8786 Uncertain 19_49217305_A->G 19 49217305 49217305 A G snp 134.77 0/1 99 28 20 8 0.29 splicing rs281386 MAMSTR AU NM_001130915 exon3 c.779+3A>G 0.491214 0.8413 0.340800 0.4347 0.8640 Pathogenic 19_49217520_T->C 19 49217520 49217520 T C snp 77.77 0/1 99 26 20 6 0.23 intronic rs281387 MAMSTR AU NM_001130915 exon4 c.1099-102T>C 0.880192 0.8641 Uncertain 19_49217605_T->G 19 49217605 49217605 T G snp 299.77 0/1 99 53 40 13 0.25 intronic rs281388 MAMSTR AU NM_001130915 exon4 c.1099-17T>G 0.879792 0.8641 0.958001 0.8731 0.8669 Uncertain 19_49227510_T->C 19 49227510 49227510 T C snp 136.03 1/1 12 4 0 4 1.0 intronic rs281405 RASIP1 AU NM_017805 exon3 c.3539-83T>C 0.970647 0.9107 Uncertain 19_49244219_C->A 19 49244219 49244219 C A snp 679.77 0/1 99 75 44 31 0.41 exonic rs2307018 IZUMO1 AU synonymous SNV NM_182575 exon10 c.G999T p.A333A 0.513778 0.8323 0.398047 0.4787 0.8453 Uncertain 19_49244220_G->A 19 49244220 49244220 G A snp 658.77 0/1 99 73 42 31 0.42 exonic rs2307019 IZUMO1 AU nonsynonymous SNV NM_182575 exon10 c.C998T p.A333V 0.513778 0.8323 0.397970 0.4787 0.8456 0.46 T 0.0 P -0.955 T 0.001 T 0.001 T Pathogenic 19_49246866_A->G 19 49246866 49246866 A G snp 1910.77 1/1 99 62 0 62 1.0 intronic rs838147 IZUMO1 AU NM_182575 exon5 c.2618+84A>G 0.757388 0.9931 Uncertain 19_49247601_C->T 19 49247601 49247601 C T snp 429.77 0/1 99 36 19 17 0.47 intronic rs11672046 IZUMO1 AU NM_182575 exon7 c.3545-108C>T 0.503994 0.8363 Uncertain 19_49247693_C->T 19 49247693 49247693 C T snp 912.77 0/1 99 67 31 36 0.54 intronic rs8108136 IZUMO1 AU NM_182575 exon7 c.3545-16C>T 0.503994 0.8363 0.383900 0.4764 0.8539 Uncertain 19_49247786_G->A 19 49247786 49247786 G A snp 1148.77 0/1 99 117 67 50 0.43 exonic rs8108468 IZUMO1 AU synonymous SNV NM_182575 exon4 c.C321T p.F107F 0.503994 0.8363 0.383823 0.4768 0.8542 Uncertain 19_49247900_G->A 19 49247900 49247900 G A snp 390.77 0/1 99 35 20 15 0.43 intronic rs8111288 IZUMO1 AU NM_182575 exon7 c.3632+104G>A 0.501597 0.8244 Uncertain 19_49247963_G->T 19 49247963 49247963 G T snp 116.77 0/1 66 6 2 4 0.67 intronic rs8111399 IZUMO1 AU NM_182575 exon7 c.3632+167G>T 0.504992 0.8413 Uncertain 19_49248640_A->G 19 49248640 49248640 A G snp 1015.77 0/1 99 78 39 39 0.5 intronic rs12982115 IZUMO1 AU NM_182575 exon8 c.4381+95A>G 0.503994 0.8413 Uncertain 19_49248730_G->A 19 49248730 49248730 G A snp 1377.77 1/1 99 36 0 36 1.0 intronic rs838145 IZUMO1 AU NM_182575 exon9 c.4717-151G>A 0.839457 0.996 Uncertain 19_49253389_C->T 19 49253389 49253389 C T snp 251.77 0/1 99 19 8 11 0.58 UTR3 rs4015 FUT1 AR 0.304313 0.2867 0.275410 Uncertain 19_49254573_T->A 19 49254573 49254573 T A snp 559.77 0/1 99 36 16 20 0.56 intronic rs838137 FUT1 AR NM_000148 exon1 c.1100+33T>A 0.657348 0.6776 0.518231 0.5030 0.6815 Uncertain 19_49259529_A->G 19 49259529 49259529 A G snp 2920.77 1/1 99 100 0 100 1.0 exonic rs838133 FGF21 AU synonymous SNV NM_019113 exon1 c.A36G p.G12G 0.771765 0.994 0.607950 0.6629 0.9935 Uncertain 19_49261368_T->C 19 49261368 49261368 T C snp 1902.77 1/1 99 69 0 69 1.0 exonic rs739320 FGF21 AU nonsynonymous SNV NM_019113 exon3 c.T521C p.L174P 0.85643 1 0.698097 0.7273 0.9949 0.2 T 0.0 P -1.012 T 0.0 T 0.0 T Pathogenic 19_49376584_G->A 19 49376584 49376584 G A snp 1281.77 0/1 99 126 66 60 0.48 exonic rs3786734 PPP1R15A AU nonsynonymous SNV NM_014330 exon2 c.G94A p.A32T 0.0599042 0.13 0.046930 0.0634 0.1537 0.06 T 0.605 D -1.085 T 1.0 D 0.995 D Pathogenic 19_49401238_G->T 19 49401238 49401238 G T snp 43.77 0/1 72 4 2 2 0.5 intronic rs77978258 TULP2 AU NM_003323 exon12 c.16859+112G>T Uncertain 19_49416456_G->A 19 49416456 49416456 G A snp 5298.77 1/1 99 195 0 195 1.0 splicing rs2387579 NUCB1 AU NM_006184 exon6 c.12400+3G>A 0.5 0.6915 0.503921 0.5328 0.6880 Pathogenic 19_49416555_A->- 19 49416555 49416555 A - indel 3093.73 1/1 99 100 1 99 0.99 ncRNA_intronic rs5828369 NUCB1-AS1 AU 0.653954 0.6954 Uncertain 19_49416936_C->T 19 49416936 49416936 C T snp 172.77 0/1 99 20 13 7 0.35 ncRNA_intronic rs746075 NUCB1-AS1 AU 0.235623 0.1687 Uncertain 19_49421829_A->G 19 49421829 49421829 A G snp 3329.77 1/1 99 102 0 102 1.0 ncRNA_intronic rs2287834 NUCB1-AS1 AU 0.672923 0.4544 Uncertain 19_49421966_T->C 19 49421966 49421966 T C snp 7391.77 1/1 99 250 1 249 1.0 ncRNA_exonic rs2287836 NUCB1-AS1 AU 0.611422 0.4544 0.647778 0.7198 0.4687 Uncertain 19_49424354_C->T 19 49424354 49424354 C T snp 1337.77 1/1 99 46 0 46 1.0 intronic rs12979307 NUCB1 AU NM_006184 exon11 c.20357-56C>T 0.449281 0.3859 Uncertain 19_49424381_C->A 19 49424381 49424381 C A snp 1840.77 1/1 99 72 0 72 1.0 intronic rs12979328 NUCB1 AU NM_006184 exon11 c.20357-29C>A 0.449281 0.3839 0.530308 0.6324 0.3961 Uncertain 19_49424925_C->T 19 49424925 49424925 C T snp 1068.77 1/1 78 39 0 39 1.0 intronic rs11671777 NUCB1 AU NM_006184 exon12 c.21030-158C>T 0.448482 0.3859 Uncertain 19_49425341_T->C 19 49425341 49425341 T C snp 54.74 1/1 6 2 0 2 1.0 intronic rs12974483 NUCB1 AU NM_006184 exon12 c.21136+152T>C 0.513379 0.3859 Uncertain 19_49425772_T->C 19 49425772 49425772 T C snp 1903.77 1/1 99 57 0 57 1.0 UTR3 rs1532704 NUCB1 AU 0.961062 0.9573 Uncertain 19_49425838_G->A 19 49425838 49425838 G A snp 272.78 1/1 24 8 0 8 1.0 UTR3 rs1058491 NUCB1 AU 0.448682 0.3849 Uncertain 19_49458262_C->T 19 49458262 49458262 C T snp 730.77 1/1 54 30 0 30 1.0 intronic rs4645881 BAX AU NM_138764 exon1 c.34+43C>T 0.770767 0.8383 0.846704 0.8417 0.8606 Uncertain 19_49459104_A->G 19 49459104 49459104 A G snp 1504.77 1/1 99 49 0 49 1.0 intronic rs1805419 BAX AU NM_138764 exon3 c.905+14A>G 0.621805 0.5873 0.677380 0.6744 0.6076 Uncertain 19_49464971_G->A 19 49464971 49464971 G A snp 992.77 1/1 75 36 0 36 1.0 UTR3 rs704243 BAX AU 0.908946 0.9464 Uncertain 19_49469087_T->C 19 49469087 49469087 T C snp 6483.77 1/1 99 224 0 224 1.0 exonic rs2230267 FTL AR,AD synonymous SNV NM_000146 exon2 c.T163C p.L55L 0.460663 0.4246 0.519529 0.4979 0.4258 CLINSIG=probable-pathogenic|non-pathogenic;CLNDBN=sporadic_abdominal_aortic_aneurysm|not_specified;CLNREVSTAT=no_assertion_criteria_provided|criteria_provided\x2c_single_submitter;CLNACC=RCV000144503.1|RCV000146000.1;CLNDSDB=MedGen|MedGen;CLNDSDBID=CN220053|CN169374 Uncertain 19_49474027_A->T 19 49474027 49474027 A T snp 1377.77 1/1 99 49 0 49 1.0 intronic rs2270938 GYS1 AR NM_001161587 exon3 c.1422+61A>T 0.379193 0.372 Uncertain 19_49485548_G->A 19 49485548 49485548 G A snp 692.77 0/1 99 63 29 34 0.54 exonic rs5464 GYS1 AR synonymous SNV NM_002103 exon7 c.C1026T p.F342F 0.254593 0.2183 0.290481 0.2697 0.2030 0.025 P -0.938 T Likely benign 19_49485758_C->T 19 49485758 49485758 C T snp 185.77 0/1 99 14 6 8 0.57 intronic rs2270937 GYS1 AR NM_001161587 exon10 c.13088+126C>T 0.26278 0.2788 Uncertain 19_49496388_G->T 19 49496388 49496388 G T snp 1277.77 0/1 99 117 55 62 0.53 UTR5 rs2287753 GYS1 AR 0.00419329 0.0188 0.0018 0.0242 Uncertain 19_49513273_C->T 19 49513273 49513273 C T snp 2250.77 0/1 99 246 145 101 0.41 exonic rs1062708 RUVBL2 AU synonymous SNV NM_006666 exon8 c.C613T p.L205L 0.389377 0.3899 0.396059 0.4723 0.4054 Uncertain 19_49513349_C->G 19 49513349 49513349 C G snp 1874.77 0/1 99 192 112 80 0.42 intronic rs2287760 RUVBL2 AU NM_006666 exon8 c.16155+26C>G 0.585064 0.5933 0.596147 0.6019 0.5797 Uncertain 19_49513533_A->G 19 49513533 49513533 A G snp 189.77 0/1 99 12 5 7 0.58 intronic rs2042250 RUVBL2 AU NM_006666 exon8 c.16155+210A>G 0.952276 0.9286 Uncertain 19_49513730_A->C 19 49513730 49513730 A C snp 118.77 0/1 99 84 57 27 0.32 intronic rs745488819 RUVBL2 AU NM_006666 exon9 c.16576-14A>C 0.0180 0.0072 Uncertain 19_49517721_T->- 19 49517721 49517721 T - indel 4302.73 0/1 99 183 70 113 0.62 intronic RUVBL2 AU NM_006666 exon12 c.20572-19delT Uncertain 19_49518484_C->T 19 49518484 49518484 C T snp 508.77 0/1 99 46 27 19 0.41 intronic rs753307 RUVBL2 AU NM_006666 exon13 c.21239+77C>T 0.433706 0.2758 Uncertain 19_49519058_T->C 19 49519058 49519058 T C snp 1216.77 0/1 99 101 50 51 0.5 intronic rs749776 RUVBL2 AU NM_006666 exon15 c.21905-15T>C 0.578275 0.3383 0.627736 0.5883 0.3235 Uncertain 19_49519230_T->G 19 49519230 49519230 T G snp 740.77 0/1 99 56 30 26 0.46 downstream rs2013039 LHB AR 0.512181 0.2798 0.5136 0.2604 Uncertain 19_49519466_A->G 19 49519466 49519466 A G snp 245.77 0/1 60 12 3 9 0.75 exonic rs1056917 LHB AR synonymous SNV NM_000894 exon3 c.T285C p.G95G 0.587061 0.3383 0.645087 0.6048 0.3231 Uncertain 19_49519855_T->G 19 49519855 49519855 T G snp 96.77 0/1 99 21 15 6 0.29 exonic rs1056914 LHB AR synonymous SNV NM_000894 exon2 c.A132C p.P44P 0.51897 0.2798 0.524308 0.5136 0.2588 Uncertain 19_49519873_G->C 19 49519873 49519873 G C snp 171.77 0/1 99 24 16 8 0.33 exonic rs6521 LHB AR synonymous SNV NM_000894 exon2 c.C114G p.V38V 0.493011 0.3343 0.507074 0.5525 0.3174 Uncertain 19_49519997_A->G 19 49519997 49519997 A G snp 106.77 0/1 99 10 5 5 0.5 intronic rs4002462 LHB AR NM_000894 exon2 c.647+26A>G 0.569888 0.3393 0.5668 0.3153 0 D 0.0 P -0.960 T Uncertain 19_49520315_T->C 19 49520315 49520315 T C snp 868.77 0/1 99 83 46 37 0.45 intronic rs2387589 LHB AR NM_000894 exon3 c.999-8T>C 0.434505 0.2758 0.458244 0.4829 0.2601 Uncertain 19_49520372_A->T 19 49520372 49520372 A T snp 1261.77 0/1 99 108 50 58 0.54 upstream rs3752210 LHB AR 0.633187 0.3383 0.684376 0.6023 0.3234 Uncertain 19_49520502_C->T 19 49520502 49520502 C T snp 341.77 0/1 99 20 8 12 0.6 upstream rs1960072 LHB AR 0.496006 0.3343 Uncertain 19_49522106_G->A 19 49522106 49522106 G A snp 152.77 0/1 99 14 7 7 0.5 ncRNA_intronic rs8108340 LOC101059948 AU 0.565096 0.3383 Uncertain 19_49528937_T->C 19 49528937 49528937 T C snp 643.77 0/1 99 35 13 22 0.63 intergenic rs4802537 CGB AU 0.560304 0.3829 Uncertain 19_49529034_A->G 19 49529034 49529034 A G snp 976.77 0/1 99 95 49 46 0.48 intergenic rs201349530 CGB AU 0.00419329 0.0188 Uncertain 19_49529379_T->C 19 49529379 49529379 T C snp 339.78 1/1 27 10 0 10 1.0 intergenic rs7255292 CGB AU 0.938099 1 Uncertain 19_49529404_A->G 19 49529404 49529404 A G snp 118.77 0/1 66 7 2 5 0.71 intergenic rs2387592 CGB AU 0.485024 0.3681 Uncertain 19_49540093_A->C 19 49540093 49540093 A C snp 1244.77 0/1 99 87 36 51 0.59 UTR5 rs10853805 CGB1 AU 0.649161 0.379 Uncertain 19_49542078_A->G 19 49542078 49542078 A G snp 1912.77 0/1 99 153 69 84 0.55 intergenic rs4002456 SNAR-G1 AU 0.19988 0.128 Uncertain 19_49558573_G->T 19 49558573 49558573 G T snp 114.03 1/1 12 9 0 9 1.0 intronic rs56007532 CGB7 AU NM_033142 exon3 c.1070-44G>T 0.2421 0.1952 Uncertain 19_49558667_T->C 19 49558667 49558667 T C snp 476.77 0/1 99 39 14 25 0.64 UTR5 rs111775228 CGB7 AU 0.068353 0.1637 0.1454 Uncertain 19_49558678_T->G 19 49558678 49558678 T G snp 922.77 1/1 69 41 0 41 1.0 UTR5 rs35000456 CGB7 AU 0.267372 0.2312 0.080834 0.2081 0.1637 Uncertain 19_49558690_T->G 19 49558690 49558690 T G snp 938.77 1/1 69 43 0 43 1.0 UTR5 rs55995744 CGB7 AU 0.26877 0.2302 Uncertain 19_49558729_G->C 19 49558729 49558729 G C snp 924.77 1/1 66 45 0 45 1.0 UTR5 rs12461085 CGB7 AU 0.521765 0.4464 Uncertain 19_49559329_G->A 19 49559329 49559329 G A snp 1456.77 1/1 99 45 0 45 1.0 upstream rs3810179 CGB7 AU 0.499002 0.4058 Uncertain 19_49559518_C->G 19 49559518 49559518 C G snp 1122.77 0/1 99 85 40 45 0.53 upstream rs3810180 CGB7 AU 0.145168 0.1607 0.1995 0.1439 0.1 T 0.000 P -1.085 T 0.0 T 0.0 T Uncertain 19_49559693_T->C 19 49559693 49559693 T C snp 818.77 0/1 99 70 34 36 0.51 upstream rs79891871 CGB7 AU 0.13738 0.1567 0.1886 0.1439 0.03 T 0.000 P -1.073 T 0.001 T 0.002 T Uncertain 19_49560461_G->A 19 49560461 49560461 G A snp 887.77 1/1 63 38 0 38 1.0 intergenic rs3810182 CGB7 AU 0.267572 0.2282 0.3650 0.22 Uncertain 19_49560521_G->A 19 49560521 49560521 G A snp 401.77 1/1 30 14 0 14 1.0 intergenic rs3810183 CGB7 AU 0.482827 0.3929 Uncertain 19_49573206_C->T 19 49573206 49573206 C T snp 298.77 0/1 99 22 11 11 0.5 UTR3 rs11083959 KCNA7 AU 0.217452 0.2837 Uncertain 19_49573438_A->G 19 49573438 49573438 A G snp 2146.77 0/1 99 181 94 87 0.48 exonic rs1017219 KCNA7 AU nonsynonymous SNV NM_031886 exon2 c.T1253C p.M418T 0.366014 0.3353 0.385284 0.3678 0.3506 0.37 T 0.000 P -0.998 T 0.0 T 0.0 T Pathogenic 19_49574125_G->C 19 49574125 49574125 G C snp 649.77 0/1 99 43 22 21 0.49 exonic rs1611775 KCNA7 AU nonsynonymous SNV NM_031886 exon2 c.C566G p.P189R 0.367212 0.3323 0.384130 0.3740 0.3484 0.57 T 0.0 P -0.942 T 0.0 T 0.001 T Pathogenic 19_49588746_C->T 19 49588746 49588746 C T snp 1890.77 0/1 99 212 128 84 0.4 UTR5 rs11539822 SNRNP70 AU 0.205471 0.2887 Uncertain 19_49604856_CT->- 19 49604856 49604857 CT - indel 581.73 0/1 99 29 11 18 0.62 intronic rs78616533 SNRNP70 AU NM_001301069 exon7 c.15057+128_15057+129delCT 0.110224 0.2113 Uncertain 19_49605530_A->G 19 49605530 49605530 A G snp 939.77 1/1 69 30 0 30 1.0 intronic rs10419811 SNRNP70 AU NM_001301069 exon7 c.15057+802A>G 0.969249 0.999 Uncertain 19_49611319_C->T 19 49611319 49611319 C T snp 948.77 0/1 99 75 37 38 0.51 exonic rs1058882 SNRNP70 AU synonymous SNV NM_001301069 exon10 c.C906T p.G302G 0.166933 0.0575 0.217006 0.3778 0.1667 Uncertain 19_49617706_T->C 19 49617706 49617706 T C snp 79.77 0/1 99 12 7 5 0.42 intronic rs10419132 LIN7B AU NM_022165 exon1 c.37+8T>C 0.373003 0.2063 0 . Uncertain 19_49617901_A->C 19 49617901 49617901 A C snp 99.28 1/1 9 4 0 4 1.0 intronic rs35903102 LIN7B AU NM_022165 exon1 c.37+203A>C 0.602636 0.5089 Uncertain 19_49618457_C->T 19 49618457 49618457 C T snp 46.77 0/1 33 3 1 2 0.67 intronic rs1009212 LIN7B AU NM_022165 exon3 c.855-59C>T 0.244808 0.0585 0.319536 Uncertain 19_49618682_ATG->- 19 49618682 49618684 ATG - indel 3468.73 0/1 99 138 68 70 0.51 intronic rs55891932 LIN7B AU NM_022165 exon3 c.927+94_927+96delATG 0.25599 0.0585 0.3799 0.0726 Uncertain 19_49618778_A->G 19 49618778 49618778 A G snp 344.77 0/1 99 31 20 11 0.35 intronic rs1009213 LIN7B AU NM_022165 exon3 c.927+190A>G 0.25599 0.0585 Uncertain 19_49621592_G->C 19 49621592 49621592 G C snp 910.77 0/1 99 100 60 40 0.4 intronic rs1060967 LIN7B AU NM_022165 exon6 c.3947-16G>C 0.366414 0.2054 0.401738 0.3796 0.2063 Uncertain 19_49621964_T->C 19 49621964 49621964 T C snp 5670.77 1/1 99 211 0 211 1.0 exonic rs2232003 C19orf73 AU nonsynonymous SNV NM_018111 exon1 c.A316G p.S106G 0.698482 0.5327 0.779997 0.7543 0.5614 0 D 0.0 P -1.018 T 0.0 T 0.0 T Pathogenic 19_49632079_C->A 19 49632079 49632079 C A snp 2609.77 0/1 99 250 137 113 0.45 intronic rs4802565 PPFIA3 AU NM_003660 exon4 c.974-25C>A 0.597843 0.253 0.686807 0.5869 0.2447 Uncertain 19_49632309_T->C 19 49632309 49632309 T C snp 981.77 0/1 99 67 28 39 0.58 intronic rs4802566 PPFIA3 AU NM_003660 exon4 c.1139+40T>C 0.61861 0.253 0.711902 0.6016 0.2519 Uncertain 19_49632500_C->T 19 49632500 49632500 C T snp 171.77 0/1 99 21 14 7 0.33 intronic rs4802567 PPFIA3 AU NM_003660 exon5 c.1506-136C>T 0.598642 0.253 Uncertain 19_49632772_C->T 19 49632772 49632772 C T snp 355.77 0/1 99 36 19 17 0.47 intronic rs1559155 PPFIA3 AU NM_003660 exon5 c.1581+61C>T 0.614617 0.2331 0.702673 Uncertain 19_49638956_C->G 19 49638956 49638956 C G snp 2277.77 0/1 99 171 75 96 0.56 intronic rs745124 PPFIA3 AU NM_003660 exon14 c.7905-79C>G 0.555711 0.256 Uncertain 19_49639948_A->G 19 49639948 49639948 A G snp 64.77 0/1 93 16 12 4 0.25 intronic rs2303052 PPFIA3 AU NM_003660 exon15 c.8850-32A>G 0.196685 0.0595 0.291518 0.3447 0.0906 Uncertain 19_49640002_G->T 19 49640002 49640002 G T snp 141.77 0/1 99 28 19 9 0.32 exonic rs2303053 PPFIA3 AU nonsynonymous SNV NM_003660 exon15 c.G1687T p.A563S 0.443291 0.2202 0.487454 0.5478 0.3131 0.1 T 0.118 P -0.923 T 0.035 T 0.015 T Pathogenic 19_49643404_T->C 19 49643404 49643404 T C snp 139.77 0/1 94 8 3 5 0.63 intronic rs3764624 PPFIA3 AU NM_003660 exon18 c.12215+59T>C 0.470248 0.2222 Uncertain 19_49644593_C->T 19 49644593 49644593 C T snp 274.77 0/1 99 22 13 9 0.41 intronic rs7250958 PPFIA3 AU NM_003660 exon19 c.13546-83C>T 0.433506 0.2222 Uncertain 19_49645176_C->G 19 49645176 49645176 C G snp 768.77 0/1 99 56 22 34 0.61 intronic rs10417260 PPFIA3 AU NM_003660 exon20 c.14160-114C>G 0.487021 0.2232 Uncertain 19_49645194_-->TG 19 49645194 49645194 - TG indel 1510.73 0/1 99 77 33 44 0.57 intronic rs113859565 PPFIA3 AU NM_003660 exon20 c.14160-96insTG 0.34984 0.1964 Uncertain 19_49646006_A->G 19 49646006 49646006 A G snp 68.77 0/1 97 11 8 3 0.27 intronic rs4545921 PPFIA3 AU NM_003660 exon21 c.14930-54A>G 0.606829 0.245 Uncertain 19_49649051_T->G 19 49649051 49649051 T G snp 1054.77 0/1 99 86 42 44 0.51 intronic rs3764625 PPFIA3 AU NM_003660 exon22 c.18069-148T>G 0.59365 0.245 Uncertain 19_49649498_C->T 19 49649498 49649498 C T snp 447.77 0/1 99 50 32 18 0.36 intronic rs10421292 PPFIA3 AU NM_003660 exon23 c.18319+49C>T 0.345847 0.1617 0.406029 0.3657 0.1700 Uncertain 19_49652129_T->- 19 49652129 49652129 T - indel 364.73 0/1 99 43 28 15 0.35 intronic rs112505587 PPFIA3 AU NM_003660 exon25 c.20890+109delT 0.591454 0.2411 Uncertain 19_49652130_G->A 19 49652130 49652130 G A snp 309.77 0/1 99 43 29 14 0.33 intronic rs116573491 PPFIA3 AU NM_003660 exon25 c.20890+110G>A 0.591454 0.2411 Uncertain 19_49655174_A->T 19 49655174 49655174 A T snp 392.77 0/1 99 26 10 16 0.62 intronic rs1423520 HRC AU NM_002152 exon3 c.708-86A>T 0.60603 0.2421 Uncertain 19_49657334_G->A 19 49657334 49657334 G A snp 2800.77 0/1 99 195 87 108 0.55 exonic rs3745296 HRC AU synonymous SNV NM_002152 exon1 c.C1161T p.F387F 0.00838658 0.0397 0.0030 0.0415 Uncertain 19_49657711_CAT->- 19 49657711 49657713 CAT - indel 950.73 0/1 99 58 18 40 0.69 exonic rs61198077 HRC AU nonframeshift deletion NM_002152 exon1 c.782_784del p.261_262del 0.360024 0.245 0.3764 0.2479 ID=COSM1631013;OCCURENCE=1(liver) Uncertain 19_49658209_A->C 19 49658209 49658209 A C snp 2841.77 0/1 99 250 129 121 0.48 exonic rs3745297 HRC AU nonsynonymous SNV NM_002152 exon1 c.T286G p.S96A 0.350839 0.254 0.385207 0.4053 0.2612 0.24 T 0.0 P -0.982 T 0.037 T 0.023 T ID=CM087519;DIS=Ventricular arrhythmias, association with;TAG=DFP;PUB=18617481 DFP Pathogenic 19_49658367_C->T 19 49658367 49658367 C T snp 2364.77 0/1 99 205 100 105 0.51 exonic rs3745298 HRC AU nonsynonymous SNV NM_002152 exon1 c.G128A p.S43N 0.471645 0.3105 0.490927 0.4590 0.3091 1 T 0.0 P -0.963 T 0.0 T 0.0 T Pathogenic 19_49658390_T->C 19 49658390 49658390 T C snp 2084.77 0/1 99 175 89 86 0.49 exonic rs3745299 HRC AU synonymous SNV NM_002152 exon1 c.A105G p.L35L 0.469249 0.2996 0.484853 0.4412 0.2940 Uncertain 19_49660889_A->G 19 49660889 49660889 A G snp 56.74 1/1 6 2 0 2 1.0 upstream rs3760662 TRPM4 AD 0.425319 0.3294 Uncertain 19_49661112_G->A 19 49661112 49661112 G A snp 432.77 0/1 99 49 30 19 0.39 UTR5 rs3760663 TRPM4 AD 0.150359 0.0565 0.2937 0.0924 Uncertain 19_49661547_A->G 19 49661547 49661547 A G snp 3208.76 0/1 99 237 104 133 0.56 intronic rs11882563 TRPM4 AD NM_017636 exon2 c.393+31A>G 0.223642 0.2163 0.193142 0.1807 0.2348 Uncertain 19_49661582_T->C 19 49661582 49661582 T C snp 5170.77 1/1 99 179 0 179 1.0 intronic rs3760664 TRPM4 AD NM_017636 exon2 c.393+66T>C 0.599441 0.3175 0.779457 Uncertain 19_49661678_G->C 19 49661678 49661678 G C snp 110.77 0/1 99 8 4 4 0.5 intronic rs3760665 TRPM4 AD NM_017636 exon2 c.393+162G>C 0.186302 0.2113 Uncertain 19_49671089_C->T 19 49671089 49671089 C T snp 108.77 0/1 99 49 41 8 0.16 intronic rs71352733 TRPM4 AD NM_017636 exon4 c.10050-84C>T Uncertain 19_49671151_G->A 19 49671151 49671151 G A snp 611.77 0/1 99 90 64 26 0.29 intronic rs68004247 TRPM4 AD NM_017636 exon4 c.10050-22G>A 0.338858 0.2212 0.356066 0.3323 0.2220 Uncertain 19_49671442_-->GT 19 49671442 49671442 - GT indel 313.73 0/1 99 26 14 12 0.46 intronic rs35449031 TRPM4 AD NM_017636 exon5 c.10393-74insGT 0.33107 0.2163 Uncertain 19_49674495_C->A 19 49674495 49674495 C A snp 760.77 0/1 99 57 27 30 0.53 intronic rs1477363 TRPM4 AD NM_017636 exon7 c.13490-118C>A 0.163339 0.0575 Uncertain 19_49685709_CCATCCATCCATCCAT->- 19 49685709 49685724 CCATCCATCCATCCAT - indel 7942.73 ./1 99 78 1 77 0.99 intronic rs371907605 TRPM4 AD NM_017636 exon11 c.24711-125_24711-110delCCATCCATCCATCCAT Uncertain 19_49685709_CCAT->- 19 49685709 49685712 CCAT - indel 7942.73 ./1 99 78 1 77 0.99 intronic rs201110201 TRPM4 AD NM_017636 exon11 c.24711-125_24711-122delCCAT Uncertain 19_49691822_T->C 19 49691822 49691822 T C snp 1530.77 0/1 99 118 49 69 0.58 intronic rs909010 TRPM4 AD NM_017636 exon13 c.30774-75T>C Uncertain 19_49692373_C->G 19 49692373 49692373 C G snp 668.77 0/1 99 81 51 30 0.37 intronic rs1175791 TRPM4 AD NM_017636 exon14 c.31225+25C>G 0.34365 0.247 0.359911 0.3222 0.2544 Uncertain 19_49700205_A->G 19 49700205 49700205 A G snp 197.77 0/1 99 12 5 7 0.58 intronic rs66528168 TRPM4 AD NM_017636 exon17 c.39008+74A>G 0.14976 0.0595 Uncertain 19_49703401_T->C 19 49703401 49703401 T C snp 991.77 0/1 99 70 34 36 0.51 intronic rs1175806 TRPM4 AD NM_017636 exon18 c.42433-155T>C 0.292332 0.245 Uncertain 19_49703764_A->G 19 49703764 49703764 A G snp 818.77 0/1 99 69 36 33 0.48 intronic rs10403114 TRPM4 AD NM_017636 exon18 c.42566+75A>G 0.28774 0.245 Uncertain 19_49705117_A->- 19 49705117 49705117 A - indel 174.73 0/1 99 21 14 7 0.33 intronic rs11353757 TRPM4 AD NM_017636 exon20 c.44097-103delA Uncertain 19_49794028_G->T 19 49794028 49794028 G T snp 606.77 0/1 99 56 32 24 0.43 splicing rs45549132 SLC6A16 AU NM_014037 exon2 c.645+4G>T 0.352636 0.3333 0.286476 0.3113 0.3716 Pathogenic 19_49812403_G->T 19 49812403 49812403 G T snp 382.77 0/1 99 27 11 16 0.59 intronic rs2278405 SLC6A16 AU NM_014037 exon6 c.18995+29G>T 0.305112 0.3383 0.241699 0.2575 0.3391 Uncertain 19_49838891_C->A 19 49838891 49838891 C A snp 7095.77 1/1 99 250 1 249 1.0 intronic rs354020 CD37 AU NM_001774 exon1 c.69+25C>A 0.761981 0.8085 0.723205 0.7759 0.8085 Uncertain 19_49839015_T->C 19 49839015 49839015 T C snp 6477.77 1/1 99 227 0 227 1.0 exonic rs354021 CD37 AU synonymous SNV NM_001774 exon2 c.T114C p.I38I 0.842851 0.8085 0.814316 0.8032 0.8087 Uncertain 19_49841054_G->T 19 49841054 49841054 G T snp 2661.77 1/1 99 80 0 80 1.0 intronic rs354026 CD37 AU NM_001774 exon5 c.2384-127G>T 0.761182 0.8085 0.7980 0.8323 Uncertain 19_49845895_C->T 19 49845895 49845895 C T snp 242.77 0/1 99 13 4 9 0.69 intronic rs8108669 TEAD2 AU NM_001256658 exon2 c.1267+48C>T 0.323283 0.3304 0.278026 0.2974 0.3409 Uncertain 19_49858260_A->G 19 49858260 49858260 A G snp 83.77 0/1 69 5 2 3 0.6 intronic rs1864143 TEAD2 AU NM_001256658 exon7 c.13824-144A>G 0.360024 0.499 Uncertain 19_49860521_C->A 19 49860521 49860521 C A snp 1079.77 0/1 99 91 48 43 0.47 exonic rs80095365 TEAD2 AU nonsynonymous SNV NM_001256658 exon4 c.G348T p.Q116H 0.00878594 0.0218 0.000231 0.0083 0.0223 0.13 T 1 D -1.115 T 0.645 T 0.643 P Pathogenic 19_49869051_T->G 19 49869051 49869051 T G snp 1901.77 0/1 99 219 129 90 0.41 exonic rs2303759 DKKL1 AU nonsynonymous SNV NM_001197302 exon4 c.T101G p.M34R 0.318291 0.3373 0.272490 0.2947 0.3393 0.01 T 1.000 P -0.940 T 0.378 T 0.101 T Pathogenic 19_49878115_G->A 19 49878115 49878115 G A snp 1088.77 0/1 99 100 55 45 0.45 exonic rs1054770 DKKL1 AU nonsynonymous SNV NM_001197301 exon4 c.G466A p.G156S 0.316094 0.3373 0.265918 0.2958 0.3408 0.15 T 0.0 P -0.940 T 0.168 T 0.02 T Pathogenic 19_49878196_G->A 19 49878196 49878196 G A snp 1232.77 0/1 99 152 92 60 0.39 exonic rs2288481 DKKL1 AU nonsynonymous SNV NM_001197301 exon4 c.G547A p.E183K 0.258387 0.3264 0.220360 0.2498 0.3283 0 D 0.0 P -0.913 T 0.573 P 0.23 P Pathogenic 19_49894027_-->C 19 49894027 49894027 - C indel 1048.73 0/1 99 76 41 35 0.46 intronic rs61018355 CCDC155 AU Uncertain 19_49894028_T->C 19 49894028 49894028 T C snp 761.77 0/1 99 74 41 33 0.45 intronic rs57104627 CCDC155 AU Uncertain 19_49894152_C->T 19 49894152 49894152 C T snp 1017.77 0/1 99 100 59 41 0.41 exonic rs7256629 CCDC155 AU synonymous SNV NM_144688 exon2 c.C12T p.P4P 0.507788 0.5129 0.490736 0.5113 0.5193 Uncertain 19_49894217_G->T 19 49894217 49894217 G T snp 657.77 0/1 99 71 39 32 0.45 intronic rs7256984 CCDC155 AU NM_144688 exon2 c.43+34G>T 0.507788 0.5129 0.486658 0.5092 0.5188 Uncertain 19_49897949_T->C 19 49897949 49897949 T C snp 61.77 0/1 90 6 3 3 0.5 intronic rs4802602 CCDC155 AU NM_144688 exon3 c.3697+112T>C 0.630791 0.5109 Uncertain 19_49899076_G->A 19 49899076 49899076 G A snp 429.77 0/1 99 37 16 21 0.57 exonic rs10405154 CCDC155 AU nonsynonymous SNV NM_144688 exon5 c.G386A p.R129Q 0.529153 0.5119 0.533146 0.5963 0.5847 0.85 T 0.0 P -0.955 T 0.001 T 0.001 T Pathogenic 19_49900877_A->G 19 49900877 49900877 A G snp 1666.77 0/1 99 136 64 72 0.53 intronic rs9304688 CCDC155 AU NM_144688 exon6 c.6767-30A>G 0.571885 0.5119 0.570745 0.5459 0.5163 Uncertain 19_49901125_C->T 19 49901125 49901125 C T snp 176.77 0/1 99 20 12 8 0.4 intronic rs12977735 CCDC155 AU NM_144688 exon7 c.7098-113C>T 0.528954 0.5119 Uncertain 19_49901318_T->C 19 49901318 49901318 T C snp 1115.77 0/1 99 88 42 46 0.52 exonic rs10421748 CCDC155 AU synonymous SNV NM_144688 exon7 c.T547C p.L183L 0.571885 0.5129 0.570170 0.5466 0.5161 Uncertain 19_49901484_T->C 19 49901484 49901484 T C snp 202.77 0/1 99 11 3 8 0.73 intronic rs12980364 CCDC155 AU NM_144688 exon7 c.7260+84T>C 0.630192 0.5119 Uncertain 19_49902063_T->C 19 49902063 49902063 T C snp 116.77 0/1 64 7 3 4 0.57 intronic rs10415587 CCDC155 AU NM_144688 exon8 c.8141-218T>C 0.529553 0.5109 Uncertain 19_49902990_A->C 19 49902990 49902990 A C snp 338.77 0/1 99 20 8 12 0.6 intronic rs9807898 CCDC155 AU NM_144688 exon9 c.8624+226A>C 0.528954 0.5119 Uncertain 19_49903008_G->C 19 49903008 49903008 G C snp 456.77 1/1 36 14 0 14 1.0 intronic rs8110789 CCDC155 AU NM_144688 exon9 c.8624+244G>C 0.971845 1 Uncertain 19_49925667_T->G 19 49925667 49925667 T G snp 2422.77 0/1 99 174 70 104 0.6 downstream rs12974629 PTH2 AU 0.735423 0.6052 Uncertain 19_49930721_T->C 19 49930721 49930721 T C snp 1298.77 0/1 99 128 74 54 0.42 exonic rs4802605 GFY AU nonsynonymous SNV NM_001195256 exon1 c.T1034C p.V345A 0.728634 0.4236 0.7776 0.5 Pathogenic 19_49932015_G->C 19 49932015 49932015 G C snp 1223.77 0/1 99 134 78 56 0.42 exonic rs369432329 GFY AU synonymous SNV NM_001195256 exon3 c.G1497C p.G499G 0.000998403 0.005 0.0002 0.0102 Uncertain 19_49935927_-->G 19 49935927 49935927 - G indel 2131.73 1/1 99 58 0 58 1.0 intronic rs398034942 SLC17A7 AU NM_020309 exon4 c.2133+19insG 1 1 1.0000 1 Uncertain 19_49936601_C->G 19 49936601 49936601 C G snp 293.77 0/1 99 13 4 9 0.69 intronic rs148771442 SLC17A7 AU NM_020309 exon6 c.3207-381C>G 0.0061901 0.0308 Uncertain 19_49940131_G->C 19 49940131 49940131 G C snp 389.77 0/1 99 32 18 14 0.44 intronic rs3826718 SLC17A7 AU NM_020309 exon11 c.6283+73G>C 0.535343 0.4355 Uncertain 19_49944731_A->- 19 49944731 49944731 A - indel 825.73 1/1 57 20 0 20 1.0 UTR5 rs58045148 SLC17A7 AU 1 1 Uncertain 19_49949589_A->T 19 49949589 49949589 A T snp 1629.77 1/1 99 59 0 59 1.0 UTR3 rs1043263 PIH1D1 AU 0.287141 0.3343 0.310241 0.3803 0.2984 Uncertain 19_49950298_C->T 19 49950298 49950298 C T snp 4610.77 1/1 99 168 0 168 1.0 exonic rs13394 PIH1D1 AU nonsynonymous SNV NM_017916 exon7 c.G670A p.V224I 0.688898 0.4177 0.809780 0.7139 0.3985 1 T 0.0 P -0.964 T 0.0 T 0.002 T Pathogenic 19_49950356_C->G 19 49950356 49950356 C G snp 2384.77 1/1 99 72 0 72 1.0 exonic rs12443 PIH1D1 AU synonymous SNV NM_017916 exon7 c.G612C p.G204G 0.677915 0.4067 0.799016 0.7105 0.3856 Uncertain 19_49954803_C->T 19 49954803 49954803 C T snp 3272.77 1/1 99 115 1 114 0.99 exonic rs2293013 PIH1D1 AU nonsynonymous SNV NM_017916 exon1 c.G29A p.G10E 0.608826 0.4117 0.715516 0.6862 0.3870 1 T 0.0 P -0.997 T 0.0 T 0.0 T Pathogenic 19_49954807_T->G 19 49954807 49954807 T G snp 3337.77 1/1 99 117 0 117 1.0 exonic rs2293012 PIH1D1 AU nonsynonymous SNV NM_017916 exon1 c.A25C p.M9L 0.608826 0.4117 0.715516 0.6862 0.3867 0.5 T 0.0 P -1.027 T 0.0 T 0.0 T Pathogenic 19_49955016_G->T 19 49955016 49955016 G T snp 1613.77 1/1 99 52 0 52 1.0 UTR5 rs2293011 PIH1D1 AU 0.609026 0.4117 Uncertain 19_49956461_TAGCCCCACCCCATTCCCAT->- 19 49956461 49956480 TAGCCCCACCCCATTCCCAT - indel 12503.7 1/1 99 56 0 56 1.0 UTR5 rs11267495 ALDH16A1 AU 0.363618 0.4067 Uncertain 19_49956690_C->T 19 49956690 49956690 C T snp 2588.77 1/1 99 98 0 98 1.0 intronic rs3760670 ALDH16A1 AU NM_153329 exon1 c.90+12C>T 0.389577 0.4048 0.359082 0.4955 0.4494 Uncertain 19_49963971_-->T 19 49963971 49963971 - T indel 103.87 0/1 15 16 2 14 0.88 intronic rs35639941 ALDH16A1 AU NM_153329 exon5 c.7490-107insT 0.421725 0.4355 Uncertain 19_49964808_T->C 19 49964808 49964808 T C snp 86.28 1/1 9 3 0 3 1.0 intronic rs58540649 ALDH16A1 AU NM_153329 exon6 c.8287-67T>C 0.624201 0.3978 Uncertain 19_49964977_C->G 19 49964977 49964977 C G snp 1218.77 0/1 99 123 68 55 0.45 exonic rs1320303 ALDH16A1 AU nonsynonymous SNV NM_153329 exon6 c.C679G p.L227V 0.510184 0.3214 0.651193 0.6222 0.3120 1 T 0.0 P -0.978 T 0.001 T 0.003 T Pathogenic 19_49965131_G->A 19 49965131 49965131 G A snp 1393.77 0/1 99 110 48 62 0.56 intronic rs76844851 ALDH16A1 AU NM_153329 exon7 c.8552-9G>A 0.307907 0.3313 0.289088 0.4128 0.3293 Uncertain 19_49965132_G->C 19 49965132 49965132 G C snp 1420.77 0/1 99 112 48 64 0.57 intronic rs79109084 ALDH16A1 AU NM_153329 exon7 c.8552-8G>C 0.295327 0.3313 0.291152 0.4123 0.3304 Uncertain 19_49965173_A->T 19 49965173 49965173 A T snp 1557.77 0/1 99 105 38 67 0.64 exonic rs7259560 ALDH16A1 AU synonymous SNV NM_153329 exon7 c.A792T p.G264G 0.300919 0.2817 0.321761 0.4231 0.3050 Uncertain 19_49967680_G->A 19 49967680 49967680 G A snp 3746.77 1/1 99 138 0 138 1.0 exonic rs2293009 ALDH16A1 AU synonymous SNV NM_153329 exon11 c.G1338A p.Q446Q 0.311502 0.3363 0.329206 0.4391 0.3554 Uncertain 19_49968781_A->G 19 49968781 49968781 A G snp 249.8 1/1 21 7 0 7 1.0 intronic rs2914667 ALDH16A1 AU NM_153329 exon13 c.12406-213A>G 0.348442 0.3373 Uncertain 19_49969310_A->G 19 49969310 49969310 A G snp 418.77 1/1 33 13 0 13 1.0 intronic rs2914668 ALDH16A1 AU NM_153329 exon14 c.12750-28A>G 0.676518 0.4107 0.809822 0.7106 0.4275 Uncertain 19_49971596_C->T 19 49971596 49971596 C T snp 784.77 1/1 60 22 0 22 1.0 intronic rs11879863 ALDH16A1 AU NM_153329 exon15 c.15049-41C>T 0.353235 0.3155 0.370424 0.3485 0.2858 Uncertain 19_49973784_A->G 19 49973784 49973784 A G snp 198.84 1/1 18 6 0 6 1.0 UTR3 rs1055637 ALDH16A1 AU 0.414736 0.3165 Uncertain 19_49978936_G->C 19 49978936 49978936 G C snp 1033.77 1/1 75 34 0 34 1.0 UTR5 rs7251338 FLT3LG AU 0.260583 0.0685 0.261802 0.1425 0.0650 Uncertain 19_49979106_A->C 19 49979106 49979106 A C snp 121.77 0/1 99 69 45 24 0.35 intronic rs778655509 FLT3LG AU NM_001204503 exon2 c.1162+48A>C 0.0005 0 Uncertain 19_49979108_T->- 19 49979108 49979108 T - indel 1519.73 1/1 99 66 2 64 0.97 intronic rs61254172 FLT3LG AU NM_001204503 exon2 c.1162+50delT 0.193291 0.0734 0.1676 0.0849 Uncertain 19_49979893_A->G 19 49979893 49979893 A G snp 1784.77 1/1 99 59 0 59 1.0 intronic rs3826717 FLT3LG AU NM_001204503 exon4 c.1927+70A>G 0.190296 0.0694 Uncertain 19_49982043_A->G 19 49982043 49982043 A G snp 94.28 1/1 9 3 0 3 1.0 intronic rs117486964 FLT3LG AU NM_001204503 exon5 c.4269-122A>G 0.0465256 0.0665 Uncertain 19_49983673_C->T 19 49983673 49983673 C T snp 1250.77 1/1 90 45 0 45 1.0 exonic rs1042120 FLT3LG AU synonymous SNV NM_001204503 exon6 c.C600T p.A200A 0.194289 0.0694 0.186323 0.1494 0.0860 Uncertain 19_49990793_C->T 19 49990793 49990793 C T snp 48.74 1/1 6 2 0 2 1.0 upstream rs2271952 RPL13A AU 0.262181 0.0694 Uncertain 19_49990843_A->G 19 49990843 49990843 A G snp 810.77 1/1 60 22 0 22 1.0 UTR5 rs2271951 RPL13A AU 0.211661 0.0694 0.205009 0.1576 0.0757 Uncertain 19_49993383_G->T 19 49993383 49993383 G T snp 941.77 1/1 69 26 0 26 1.0 ncRNA_intronic rs55991145 RPL13AP5 AU 0.261981 0.0694 Uncertain 19_49994470_T->A 19 49994470 49994470 T A snp 4934.77 1/1 99 192 0 192 1.0 ncRNA_exonic rs59192944 SNORD35A AU 0.263379 0.0694 0.246774 0.1435 0.0647 Uncertain 19_49994476_T->C 19 49994476 49994476 T C snp 4685.77 1/1 99 182 0 182 1.0 ncRNA_exonic rs56974957 SNORD35A AU 0.277955 0.0694 0.275375 0.1664 0.0647 Uncertain 19_49994677_C->G 19 49994677 49994677 C G snp 411.77 1/1 33 11 0 11 1.0 splicing rs115089990 RPL13A AU NM_012423 exon7 c.3795-4C>G 0.0020 0 Pathogenic 19_49999647_C->G 19 49999647 49999647 C G snp 2474.77 1/1 99 99 0 99 1.0 UTR5 rs17555056 RPS11 AU 0.215256 0.0694 0.214849 Uncertain 19_49999880_C->T 19 49999880 49999880 C T snp 573.77 1/1 42 21 0 21 1.0 intronic rs4802613 RPS11 AU NM_001015 exon1 c.15+152C>T 0.213458 0.0704 Uncertain 19_50002607_C->T 19 50002607 50002607 C T snp 960.77 1/1 72 30 0 30 1.0 intronic rs739349 RPS11 AU NM_001015 exon5 c.3055-161C>T 0.261581 0.0694 Uncertain 19_50002686_T->C 19 50002686 50002686 T C snp 3250.77 1/1 99 116 0 116 1.0 intronic rs756628 RPS11 AU NM_001015 exon5 c.3055-82T>C 0.262181 0.0724 Uncertain 19_50003817_-->AG 19 50003817 50003817 - AG indel 258.8 1/1 18 6 0 6 1.0 downstream rs138052193 MIR150 AU 0.4130 0.1429 ID=COSM1325132;OCCURENCE=1(ovary) Uncertain 19_50046506_C->T 19 50046506 50046506 C T snp 926.77 0/1 99 67 31 36 0.54 UTR3 rs117814164 RCN3 AU 0.0081869 0.0407 0.0035 0.0492 Uncertain 19_50093141_C->A 19 50093141 50093141 C A snp 1761.77 0/1 99 142 62 80 0.56 intronic rs62128117 PRRG2 AU NM_000951 exon6 c.6680-15C>A 0.110423 0.1548 0.131785 0.1571 0.1822 Uncertain 19_50093454_A->T 19 50093454 50093454 A T snp 1027.77 1/1 81 28 0 28 1.0 intronic rs4429389 PRRG2 AU NM_000951 exon6 c.6833+145A>T 0.994209 0.9722 Uncertain 19_50123759_G->C 19 50123759 50123759 G C snp 1111.77 0/1 99 78 32 46 0.59 intronic rs114010839 PRR12 AU NM_020719 exon10 c.28823+25G>C 0.0227636 0.0714 0.018177 0.0261 0.0816 Uncertain 19_50140068_C->T 19 50140068 50140068 C T snp 2625.77 0/1 99 206 91 115 0.56 intronic rs1368464 RRAS AU NM_006270 exon4 c.1248-12C>T 0.738219 0.8343 0.696832 0.7034 0.8164 Uncertain 19_50140092_G->A 19 50140092 50140092 G A snp 2350.77 0/1 99 172 84 88 0.51 exonic rs1865077 RRAS AU synonymous SNV NM_006270 exon3 c.C333T p.N111N 0.738219 0.8343 0.696832 0.7034 0.8169 Uncertain 19_50140209_C->T 19 50140209 50140209 C T snp 1885.77 0/1 99 178 96 82 0.46 intronic rs1368463 RRAS AU NM_006270 exon4 c.1351+26C>T 0.73742 0.8343 0.696448 0.7041 0.8179 Uncertain 19_50140246_C->A 19 50140246 50140246 C A snp 2314.77 0/1 99 222 119 103 0.46 intronic rs1865076 RRAS AU NM_006270 exon5 c.1467-53C>A 0.738219 0.8343 0.692729 Uncertain 19_50140556_G->A 19 50140556 50140556 G A snp 322.78 1/1 27 10 0 10 1.0 intronic rs1965105 RRAS AU NM_006270 exon5 c.1555+169G>A 0.970048 0.999 Uncertain 19_50149269_G->A 19 50149269 50149269 G A snp 2716.77 0/1 99 250 135 115 0.46 intronic rs34074594 SCAF1 AU NM_021228 exon4 c.1081-95G>A 0.130391 0.1081 Uncertain 19_50154904_A->C 19 50154904 50154904 A C snp 567.77 1/1 42 23 0 23 1.0 exonic rs7251334 SCAF1 AU nonsynonymous SNV NM_021228 exon7 c.A1258C p.T420P 0.996805 1 0.9868 1 0.0 P -1.018 T 0.0 T 0.0 T Pathogenic 19_50155362_CCGCTC->- 19 50155362 50155367 CCGCTC - indel 372.73 0/1 99 17 5 12 0.71 exonic rs3833232 SCAF1 AU nonframeshift deletion NM_021228 exon7 c.1716_1721del p.572_574del 0.368421 0.2371 0.0357 Uncertain 19_50156896_T->C 19 50156896 50156896 T C snp 2032.77 1/1 99 77 0 77 1.0 exonic rs10401743 SCAF1 AU synonymous SNV NM_021228 exon7 c.T3250C p.L1084L 0.970248 0.999 0.945268 0.9421 1 Uncertain 19_50162909_C->G 19 50162909 50162909 C G snp 564.77 0/1 99 53 28 25 0.47 exonic rs7251 IRF3 AD nonsynonymous SNV NM_001197128 exon5 c.G461C p.S154T 0.484625 0.3571 0.433528 0.4294 0.4104 1 T 0.018 P -0.993 T 0.0 T 0.0 T Pathogenic 19_50166463_G->A 19 50166463 50166463 G A snp 1012.77 0/1 99 78 34 44 0.56 exonic rs2230666 IRF3 AD synonymous SNV NM_001197122 exon4 c.C390T p.G130G 0.00798722 0.0397 0.000154 0.0041 0.0565 0.01 T 1 N 0.108 D 0.028 T 0.023 T Likely benign 19_50182697_T->C 19 50182697 50182697 T C snp 38.77 0/1 67 5 3 2 0.4 intronic rs8109314 PRMT1 AU NM_001536 exon2 c.2591-431T>C 0.514377 0.3611 Uncertain 19_50183980_T->C 19 50183980 50183980 T C snp 1061.77 1/1 78 28 0 28 1.0 intronic rs1433102 PRMT1 AU NM_198318 exon2 c.3308+135T>C 1 1 Uncertain 19_50183981_T->C 19 50183981 50183981 T C snp 1046.77 1/1 78 27 0 27 1.0 intronic rs1368462 PRMT1 AU NM_198318 exon2 c.3308+136T>C 1 1 Uncertain 19_50195770_T->C 19 50195770 50195770 T C snp 590.77 0/1 99 44 22 22 0.5 intronic rs10423579 CPT1C AD NM_001199753 exon3 c.141+120T>C 0.581869 0.3879 Uncertain 19_50195771_T->G 19 50195771 50195771 T G snp 582.77 0/1 99 43 22 21 0.49 intronic rs10423580 CPT1C AD NM_001199753 exon3 c.141+121T>G 0.581669 0.3879 Uncertain 19_50204051_C->T 19 50204051 50204051 C T snp 1676.77 0/1 99 175 100 75 0.43 exonic rs749555930 CPT1C AD nonsynonymous SNV NM_001136052 exon5 c.C392T p.S131F 6.597e-05 0.0009 0.09 T 1 D 0.131 D 0.925 T 0.707 D Pathogenic 19_50211841_G->A 19 50211841 50211841 G A snp 40.77 0/1 69 5 3 2 0.4 intronic rs72626235 CPT1C AD NM_001199753 exon14 c.16470-138G>A 0.0646965 0.122 Uncertain 19_50215338_G->A 19 50215338 50215338 G A snp 533.77 0/1 99 24 7 17 0.71 intronic rs112638321 CPT1C AD NM_001199753 exon17 c.19709+120G>A 0.090655 0.127 Uncertain 19_50216118_-->G 19 50216118 50216118 - G indel 6661.73 1/1 99 180 0 180 1.0 intronic rs397788420 CPT1C AD NM_001199753 exon18 c.20597+12insG 0.9999 0.9999 Uncertain 19_50250872_G->A 19 50250872 50250872 G A snp 336.78 1/1 27 9 0 9 1.0 intronic rs8109529 TSKS AU NM_021733 exon7 c.7697+143G>A 1 1 Uncertain 19_50265230_C->T 19 50265230 50265230 C T snp 822.77 1/1 60 29 0 29 1.0 intronic rs1273634 TSKS AU NM_021733 exon10 c.22228-30C>T 0.49381 0.5437 0.447563 0.3764 0.5021 Uncertain 19_50265549_T->G 19 50265549 50265549 T G snp 434.77 0/1 99 37 19 18 0.49 intronic rs3745477 TSKS AU NM_021733 exon10 c.22457+60T>G 0.496206 0.4841 Uncertain 19_50265623_C->T 19 50265623 50265623 C T snp 119.77 0/1 99 7 3 4 0.57 intronic rs1273635 TSKS AU NM_021733 exon10 c.22457+134C>T 0.0415335 0.0665 Uncertain 19_50296095_C->T 19 50296095 50296095 C T snp 43.77 0/1 72 4 2 2 0.5 intronic rs186114696 AP2A1 AU NM_130787 exon6 c.25857-152C>T 0.00678914 0.0327 Uncertain 19_50304336_A->G 19 50304336 50304336 A G snp 1316.77 0/1 99 110 50 60 0.55 intronic rs1003424 AP2A1 AU NM_130787 exon12 c.33925+21A>G 0.386581 0.244 0.441372 0.5006 0.2942 Uncertain 19_50304392_T->C 19 50304392 50304392 T C snp 580.77 0/1 99 46 24 22 0.48 intronic rs10421561 AP2A1 AU NM_130787 exon12 c.33925+77T>C 0.383187 0.244 Uncertain 19_50304439_T->C 19 50304439 50304439 T C snp 180.77 0/1 99 15 9 6 0.4 intronic rs10421754 AP2A1 AU NM_130787 exon12 c.33925+124T>C 0.383187 0.244 Uncertain 19_50305492_G->C 19 50305492 50305492 G C snp 274.77 0/1 99 117 76 41 0.35 intronic AP2A1 AU NM_130787 exon15 c.35008+94G>C Uncertain 19_50305680_C->T 19 50305680 50305680 C T snp 2016.77 0/1 99 184 93 91 0.49 intronic rs146749572 AP2A1 AU NM_014203 exon16 c.35400-110C>T 0.0091853 0.0347 0.0063 0.0825 Uncertain 19_50305688_G->C 19 50305688 50305688 G C snp 2164.77 0/1 99 182 91 91 0.5 intronic rs2159984 AP2A1 AU NM_014203 exon16 c.35400-102G>C 0.371605 0.2371 0.5192 0.3576 Uncertain 19_50305894_G->C 19 50305894 50305894 G C snp 270.77 0/1 99 14 5 9 0.64 intronic rs145828233 AP2A1 AU NM_014203 exon16 c.35466+38G>C 0.0185703 0.0159 0.005341 0.0189 0.0213 Uncertain 19_50306198_G->T 19 50306198 50306198 G T snp 130.77 0/1 99 26 18 8 0.31 intronic rs28736735 AP2A1 AU NM_130787 exon16 c.35815-7G>T 0.129593 0.1379 0.132860 0.1312 0.1719 Uncertain 19_50308893_T->C 19 50308893 50308893 T C snp 1536.77 0/1 99 158 85 73 0.46 intronic rs8101959 AP2A1 AU NM_130787 exon20 c.38527-24T>C 0.400359 0.245 0.437984 0.5207 0.3065 Uncertain 19_50309883_G->A 19 50309883 50309883 G A snp 46.77 0/1 75 7 4 3 0.43 intronic rs116763803 AP2A1 AU NM_130787 exon23 c.39547-54G>A 0.0313498 0.0466 0.011170 Uncertain 19_50312653_C->T 19 50312653 50312653 C T snp 1580.77 0/1 99 128 60 68 0.53 exonic rs2305921 FUZ AD synonymous SNV NM_025129 exon6 c.G672A p.L224L 0.13099 0.1399 0.120680 0.1258 0.2081 Uncertain 19_50312801_C->T 19 50312801 50312801 C T snp 1087.77 0/1 99 99 52 47 0.47 exonic rs35002951 FUZ AD nonsynonymous SNV NM_025129 exon6 c.G524A p.G175D 0.0345447 0.0466 0.015299 0.0439 0.0477 1 T 1.000 N -1.014 T 0.001 T 0.002 T Pathogenic 19_50314459_A->- 19 50314459 50314459 A - indel 549.73 1/1 63 21 0 21 1.0 intronic rs397730322 FUZ AD NM_001171937 exon7 c.4212-160delA 0.495208 0.4187 0.5206 0.5075 Uncertain 19_50315004_CTC->- 19 50315004 50315006 CTC - indel 785.73 0/1 99 35 14 21 0.6 intronic rs142916123 FUZ AD NM_001171937 exon8 c.4549+48_4549+50delCTC 0.0427316 0.0496 0.017652 0.0345 0.0363 Uncertain 19_50315423_G->A 19 50315423 50315423 G A snp 40.77 0/1 69 5 3 2 0.4 intronic rs8104825 FUZ AD NM_025129 exon9 c.5100-84G>A 0.363019 0.2361 Uncertain 19_50315698_A->C 19 50315698 50315698 A C snp 3216.73 1/1 99 108 0 108 1.0 intronic rs2305919 FUZ AD NM_025129 exon9 c.5185+106A>C 0.494609 0.4087 Uncertain 19_50315773_T->A 19 50315773 50315773 T A snp 1839.77 0/1 99 159 79 80 0.5 intronic rs2305918 FUZ AD NM_025129 exon10 c.5464-98T>A 0.366414 0.2361 0.4406 0.2360 Uncertain 19_50321858_G->A 19 50321858 50321858 G A snp 1236.77 0/1 99 120 63 57 0.47 exonic rs77400039 MED25 AR synonymous SNV NM_030973 exon2 c.G165A p.T55T 0.0473243 0.0645 0.018914 0.0379 0.0589 Uncertain 19_50322245_C->T 19 50322245 50322245 C T snp 46.77 0/1 72 6 3 3 0.5 intronic rs117491473 MED25 AR NM_030973 exon3 c.830-183C>T 0.0477236 0.0655 Uncertain 19_50322620_G->- 19 50322620 50322620 G - indel 3498.73 1/1 99 110 2 108 0.98 intronic rs11361316 MED25 AR NM_030973 exon3 c.955+67delG 0.451877 0.4762 Uncertain 19_50322631_T->G 19 50322631 50322631 T G snp 2709.77 1/1 99 85 0 85 1.0 intronic rs370599078 MED25 AR NM_030973 exon3 c.955+78T>G 0.451877 0.4762 Uncertain 19_50322637_C->T 19 50322637 50322637 C T snp 1239.77 1/1 93 36 0 36 1.0 intronic rs116536938 MED25 AR NM_030973 exon3 c.955+84C>T 0.44389 0.4692 Uncertain 19_50322640_G->A 19 50322640 50322640 G A snp 1106.77 1/1 81 31 0 31 1.0 intronic rs116003284 MED25 AR NM_030973 exon3 c.955+87G>A 0.44389 0.4692 Uncertain 19_50322643_A->G 19 50322643 50322643 A G snp 1106.77 1/1 81 29 0 29 1.0 intronic rs71205607 MED25 AR NM_030973 exon3 c.955+90A>G 0.44389 0.4692 Uncertain 19_50322647_T->C 19 50322647 50322647 T C snp 1094.77 1/1 81 29 0 29 1.0 intronic rs373690836 MED25 AR NM_030973 exon3 c.955+94T>C 0.44389 0.4692 Uncertain 19_50322651_A->C 19 50322651 50322651 A C snp 1081.77 1/1 81 29 0 29 1.0 intronic rs367686273 MED25 AR NM_030973 exon3 c.955+98A>C 0.44389 0.4692 Uncertain 19_50322654_A->G 19 50322654 50322654 A G snp 1106.77 1/1 81 29 0 29 1.0 intronic rs371209072 MED25 AR NM_030973 exon3 c.955+101A>G 0.44389 0.4692 Uncertain 19_50322657_T->G 19 50322657 50322657 T G snp 1101.77 1/1 81 29 0 29 1.0 intronic rs374499935 MED25 AR NM_030973 exon3 c.955+104T>G 0.44389 0.4692 Uncertain 19_50322689_G->A 19 50322689 50322689 G A snp 497.77 1/1 39 13 0 13 1.0 intronic MED25 AR NM_030973 exon3 c.955+136G>A Uncertain 19_50322704_A->G 19 50322704 50322704 A G snp 328.78 1/1 27 9 0 9 1.0 intronic rs751032243 MED25 AR NM_030973 exon3 c.955+151A>G Uncertain 19_50331679_T->- 19 50331679 50331679 T - indel 1070.73 0/1 99 53 25 28 0.53 intronic rs5828413 MED25 AR NM_030973 exon4 c.10107-26delT 0.516374 0.498 0.521086 0.5368 0.4789 Uncertain 19_50335507_A->G 19 50335507 50335507 A G snp 641.77 0/1 99 48 24 24 0.5 intronic rs3745479 MED25 AR NM_030973 exon13 c.13966-57A>G 0.0533147 0.0615 Uncertain 19_50339956_A->G 19 50339956 50339956 A G snp 991.77 0/1 99 86 48 38 0.44 intronic rs2242049 MED25 AR NM_030973 exon18 c.18505-147A>G 0.0169728 0.0496 0.0060 0.0429 Uncertain 19_50340530_C->T 19 50340530 50340530 C T snp 391.77 0/1 99 45 26 19 0.42 downstream rs117280890 MED25 AR 0.0119808 0.0486 Uncertain 19_50354211_C->T 19 50354211 50354211 C T snp 2167.77 0/1 99 190 93 97 0.51 exonic rs7260222 PTOV1 AU nonsynonymous SNV NM_001305108 exon1 c.C74T p.S25L 0.429113 0.4187 0.4422 0.4694 0.41 T 0.000 P -0.910 T 0.231 T 0.011 T Pathogenic 19_50358133_T->G 19 50358133 50358133 T G snp 1534.77 0/1 99 115 56 59 0.51 exonic rs75478119 PTOV1 AU synonymous SNV NM_001305105 exon4 c.T438G p.P146P 0.359425 0.2877 0.361350 0.3422 0.2819 Uncertain 19_50358170_T->C 19 50358170 50358170 T C snp 2525.77 1/1 99 65 0 65 1.0 intronic rs1290657 PTOV1 AU NM_001305108 exon4 c.4008+25T>C 0.738818 0.7728 0.708012 0.7066 0.7734 Uncertain 19_50361058_A->G 19 50361058 50361058 A G snp 1801.77 0/1 99 163 84 79 0.48 ncRNA_intronic rs62624500 PTOV1-AS2 AU 0.0603035 0.0635 0.036983 0.0487 0.0583 Uncertain 19_50361232_C->A 19 50361232 50361232 C A snp 1551.77 0/1 99 114 46 68 0.6 exonic rs200629879 PTOV1 AU synonymous SNV NM_001305105 exon8 c.C876A p.I292I 0.000399361 0.002 0.000077 0.0001 0.0013 Uncertain 19_50363175_A->G 19 50363175 50363175 A G snp 2653.77 1/1 99 89 0 89 1.0 intronic rs1290646 PTOV1 AU NM_001305105 exon11 c.8657-67A>G 0.635383 0.5298 Uncertain 19_50364423_T->C 19 50364423 50364423 T C snp 46.77 0/1 33 3 1 2 0.67 downstream rs3739209 PNKP AR 0.047524 0.0694 Uncertain 19_50364931_G->A 19 50364931 50364931 G A snp 530.77 0/1 99 60 35 25 0.42 exonic rs565533397 PNKP AR synonymous SNV NM_007254 exon15 c.C1320T p.A440A 0.000199681 0.001 0.0003 0.0034 Uncertain 19_50366042_G->A 19 50366042 50366042 G A snp 574.77 0/1 99 30 9 21 0.7 intronic rs3739198 PNKP AR NM_007254 exon9 c.1491+47G>A 0.0413339 0.0595 0.015611 0.0337 0.0581 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000147369.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 19_50370106_T->G 19 50370106 50370106 T G snp 40.77 0/1 33 3 1 2 0.67 intronic rs2305922 PNKP AR NM_007254 exon16 c.5806-204T>G 0.533347 0.4048 Uncertain 19_50373081_C->T 19 50373081 50373081 C T snp 530.77 0/1 99 42 23 19 0.45 UTR3 rs117054050 AKT1S1 AU 0.0121805 0.0496 Uncertain 19_50375035_T->C 19 50375035 50375035 T C snp 4015.77 1/1 99 147 0 147 1.0 intronic rs2290774 AKT1S1 AU NM_001098632 exon3 c.1895-33T>C 0.544329 0.4246 0.509688 0.4846 0.4396 Uncertain 19_50375242_C->T 19 50375242 50375242 C T snp 324.77 0/1 99 31 17 14 0.45 intronic rs2290775 AKT1S1 AU NM_001098632 exon3 c.1973+96C>T 0.388179 0.2331 Uncertain 19_50380858_T->G 19 50380858 50380858 T G snp 314.77 0/1 99 28 15 13 0.46 UTR5 rs731826 TBC1D17 AU 0.386382 0.2351 Uncertain 19_50381095_C->T 19 50381095 50381095 C T snp 2081.77 0/1 99 219 121 98 0.45 intronic rs79983202 AKT1S1 AU NM_001278160 exon5 c.8253-331C>T 0.0445288 0.0675 Uncertain 19_50383392_G->A 19 50383392 50383392 G A snp 339.77 0/1 99 22 10 12 0.55 intronic rs8109732 TBC1D17 AU NM_001168222 exon3 c.2555-143G>A 0.0447284 0.0685 Uncertain 19_50383591_A->G 19 50383591 50383591 A G snp 6599.77 1/1 99 249 2 247 0.99 exonic rs8109661 TBC1D17 AU nonsynonymous SNV NM_001168222 exon3 c.A152G p.D51G 1 1 1.0000 1 0.62 T 0.002 P -0.972 T 0.0 T 0.0 T Pathogenic 19_50383636_T->C 19 50383636 50383636 T C snp 5337.77 1/1 99 197 0 197 1.0 exonic rs3745486 TBC1D17 AU nonsynonymous SNV NM_001168222 exon3 c.T197C p.L66P 0.543131 0.4246 0.493311 0.4827 0.4379 0.41 T 0.0 P -0.971 T 0.0 T 0.0 T Pathogenic 19_50386340_T->C 19 50386340 50386340 T C snp 3770.77 1/1 99 142 1 141 0.99 intronic rs746738 TBC1D17 AU NM_001168222 exon8 c.5353+7T>C 0.54353 0.4266 0.505538 0.4872 0.4348 Uncertain 19_50391316_G->C 19 50391316 50391316 G C snp 86.77 0/1 28 5 1 4 0.8 intronic rs78137368 TBC1D17 AU NM_001168222 exon15 c.10507-171G>C 0.0457268 0.0694 Uncertain 19_50393269_A->G 19 50393269 50393269 A G snp 2722.77 0/1 99 247 132 115 0.47 exonic rs56359967 IL4I1 AU synonymous SNV NM_152899 exon8 c.T1362C p.F454F 0.131589 0.1885 0.057490 0.1054 0.2426 Uncertain 19_50393925_C->A 19 50393925 50393925 C A snp 46.77 0/1 36 5 2 3 0.6 intronic rs111751469 IL4I1 AU NM_001258018 exon1 c.931+68C>A 0.0760783 0.0734 Uncertain 19_50394205_T->C 19 50394205 50394205 T C snp 93.28 1/1 9 3 0 3 1.0 intronic rs749963823 IL4I1 AU NM_001258018 exon2 c.1301-22T>C 0.2100 0.1458 Uncertain 19_50394628_C->T 19 50394628 50394628 C T snp 1282.77 0/1 99 101 45 56 0.55 intronic rs117015420 IL4I1 AU NM_001258018 exon3 c.1735-33C>T 0.038139 0.0724 0.010534 0.0314 0.0714 Uncertain 19_50398078_C->T 19 50398078 50398078 C T snp 52.74 1/1 6 2 0 2 1.0 intronic rs58656993 IL4I1 AU NM_001258018 exon5 c.5398-246C>T 0.0896565 0.1369 Uncertain 19_50399354_G->C 19 50399354 50399354 G C snp 740.77 0/1 99 46 18 28 0.61 intronic rs3810269 IL4I1 AU NM_001258018 exon6 c.6384+44G>C 0.0513179 0.1369 0.0435 0.1647 Uncertain 19_50399384_-->C 19 50399384 50399384 - C indel 1343.73 1/1 99 38 0 38 1.0 intronic rs3840921 IL4I1 AU NM_152899 exon7 c.6478-20insC 0.566893 0.4931 0.528178 0.5593 0.5301 Uncertain 19_50411742_A->G 19 50411742 50411742 A G snp 8125.77 1/1 99 250 1 249 1.0 exonic rs892028 NUP62 AR synonymous SNV NM_153719 exon3 c.T1323C p.D441D 0.974042 1 0.947255 0.9444 0.9995 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000117863.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 19_50412417_G->A 19 50412417 50412417 G A snp 2571.77 1/1 99 87 0 87 1.0 exonic rs999583 NUP62 AR synonymous SNV NM_153719 exon3 c.C648T p.S216S 0.860423 0.9544 0.807550 0.7919 0.9643 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000117865.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 19_50435747_T->C 19 50435747 50435747 T C snp 2844.77 1/1 99 103 1 102 0.99 exonic rs283525 ATF5 AU synonymous SNV NM_012068 exon4 c.T247C p.L83L 0.668131 0.7054 0.614101 0.6242 0.7189 Uncertain 19_50435862_C->T 19 50435862 50435862 C T snp 203.77 0/1 99 19 9 10 0.53 exonic rs283526 ATF5 AU nonsynonymous SNV NM_012068 exon4 c.C362T p.P121L 0.66853 0.6538 0.643559 0.6388 0.7552 0.71 T 0.018 P -1.004 T 0.0 T 0.0 T Pathogenic 19_50435870_C->T 19 50435870 50435870 C T snp 93.77 0/1 99 14 7 7 0.5 exonic rs202105902 ATF5 AU nonsynonymous SNV NM_012068 exon4 c.C370T p.P124S 0.000199681 0.001 0.0001 0.0015 0.69 T 0.834 N -1.038 T 0.427 T 0.099 T Pathogenic 19_50435998_C->T 19 50435998 50435998 C T snp 812.77 0/1 99 68 34 34 0.5 exonic rs34877198 ATF5 AU synonymous SNV NM_012068 exon4 c.C498T p.C166C 0.0828674 0.0942 0.077935 0.0993 0.0949 Uncertain 19_50455180_C->T 19 50455180 50455180 C T snp 5286.77 1/1 99 180 0 180 1.0 exonic rs45438992 SIGLEC11 AU nonsynonymous SNV NM_001135163 exon9 c.G1510A p.D504N 0.114018 0.2579 0.002922 0.0576 0.2625 0.33 T 0.0 P -1.073 T 0.995 D 0.882 D Pathogenic 19_50461447_C->T 19 50461447 50461447 C T snp 2727.77 1/1 99 100 0 100 1.0 intronic rs919777 SIGLEC11 AU NM_052884 exon4 c.8313-92C>T 0.114617 0.2599 Uncertain 19_50462244_G->A 19 50462244 50462244 G A snp 3281.77 1/1 99 121 0 121 1.0 intronic rs1811375 SIGLEC11 AU NM_052884 exon6 c.9060-42G>A 0.563099 0.5208 0.485161 0.4589 0.5074 Uncertain 19_50463693_-->T 19 50463693 50463693 - T indel 5048.73 1/1 99 113 0 113 1.0 intronic rs201127706 SIGLEC11 AU NM_052884 exon9 c.10452+15insT 0.0662939 0.0685 0.030861 0.0001 0 Uncertain 19_50464023_C->G 19 50464023 50464023 C G snp 4111.77 0/1 99 250 87 163 0.65 exonic rs76003715 SIGLEC11 AU synonymous SNV NM_001135163 exon2 c.G246C p.T82T 0.101038 0.2312 0.0513 0.2339 0.0 P -1.022 T Likely benign 19_50464184_T->C 19 50464184 50464184 T C snp 528.77 0/1 99 152 109 43 0.28 exonic rs200296439 SIGLEC11 AU nonsynonymous SNV NM_001135163 exon2 c.A85G p.N29D 0.000257 0.0662 0.1856 0.06 T 1 N -1.025 T 0.814 T 0.372 P Pathogenic 19_50474571_A->G 19 50474571 50474571 A G snp 132.77 0/1 99 58 42 16 0.28 ncRNA_intronic rs200204035 SIGLEC16 AU 0.0543 0.2539 Uncertain 19_50474708_T->G 19 50474708 50474708 T G snp 82.77 0/1 99 12 6 6 0.5 ncRNA_intronic rs389469 SIGLEC16 AU Uncertain 19_50475114_G->C 19 50475114 50475114 G C snp 3703.77 1/1 99 128 0 128 1.0 ncRNA_intronic rs8111526 SIGLEC16 AU 0.495407 0.7431 0.3737 0.7276 Uncertain 19_50475385_T->A 19 50475385 50475385 T A snp 380.77 0/1 99 54 34 20 0.37 ncRNA_intronic rs12460968 SIGLEC16 AU 0.173323 0.2927 0.1350 0.2857 Uncertain 19_50476478_A->G 19 50476478 50476478 A G snp 664.77 1/1 51 21 0 21 1.0 ncRNA_intronic rs58165915 SIGLEC16 AU 0.496605 0.7381 Uncertain 19_50484234_G->A 19 50484234 50484234 G A snp 817.77 0/1 99 100 61 39 0.39 exonic rs16981617 VRK3 AU synonymous SNV NM_001025778 exon12 c.C1104T p.C368C 0.170128 0.2867 0.088959 0.1482 0.3036 Uncertain 19_50484337_GCCTAAGATATATACACA->- 19 50484337 50484354 GCCTAAGATATATACACA - indel 6244.73 0/1 99 122 52 70 0.57 intronic rs142103383 VRK3 AU NM_016440 exon3 c.1920+67_1920+84delGCCTAAGATATATACACA 0.170128 0.2877 0.065823 ID=COSN168935;OCCURENCE=1(large_intestine) Uncertain 19_50485300_C->G 19 50485300 50485300 C G snp 203.77 0/1 99 21 14 7 0.33 intronic rs74375054 VRK3 AU NM_016440 exon3 c.1920+1030C>G 0.0513179 0.1101 Uncertain 19_50485375_G->A 19 50485375 50485375 G A snp 559.77 0/1 99 67 45 22 0.33 intronic rs117377492 VRK3 AU NM_016440 exon3 c.1920+1105G>A 0.0561102 0.1101 0.0548 0.1020 Uncertain 19_50485454_A->G 19 50485454 50485454 A G snp 1361.77 0/1 99 136 80 56 0.41 intronic rs77791107 VRK3 AU NM_016440 exon3 c.1920+1184A>G 0.0561102 0.1091 0.0564 0.1031 Uncertain 19_50492860_C->G 19 50492860 50492860 C G snp 881.77 1/1 66 26 0 26 1.0 intronic rs10424282 VRK3 AU NM_016440 exon5 c.10545-35C>G 0.509385 0.746 0.377057 0.3907 0.7259 Uncertain 19_50493120_T->C 19 50493120 50493120 T C snp 2133.77 1/1 99 68 0 68 1.0 intronic rs283517 VRK3 AU NM_016440 exon5 c.10678+92T>C 0.652157 0.8026 Uncertain 19_50493131_G->A 19 50493131 50493131 G A snp 1738.77 1/1 99 52 0 52 1.0 intronic rs2304112 VRK3 AU NM_016440 exon5 c.10678+103G>A 0.509185 0.746 Uncertain 19_50496281_-->AC 19 50496281 50496281 - AC indel 585.14 0/1 10 15 1 14 0.93 intronic rs1160955 VRK3 AU NM_016440 exon6 c.13859+72insAC 0.931909 0.9008 Uncertain 19_50498704_G->T 19 50498704 50498704 G T snp 101.77 0/1 99 12 8 4 0.33 intronic rs2278409 VRK3 AU NM_016440 exon8 c.16182+172G>T 0.0543131 0.1101 Uncertain 19_50498755_T->C 19 50498755 50498755 T C snp 96.28 1/1 9 3 0 3 1.0 intronic rs2278408 VRK3 AU NM_016440 exon8 c.16182+223T>C 0.497005 0.7034 Uncertain 19_50504250_T->C 19 50504250 50504250 T C snp 304.78 1/1 24 9 0 9 1.0 intronic rs2115507 VRK3 AU NM_016440 exon10 c.21761+139T>C 0.505391 0.746 Uncertain 19_50510972_CTGGTCTTCTGAGGGCTACAG->- 19 50510972 50510992 CTGGTCTTCTGAGGGCTACAG - indel 12446.7 0/1 99 175 71 104 0.59 exonic rs3217382 VRK3 AU nonframeshift deletion NM_001025778 exon4 c.231_251del p.77_84del 0.0447284 0.1002 0.009744 0.0238 0.1077 Uncertain 19_50657787_G->- 19 50657787 50657787 G - indel 6676.73 1/1 99 171 0 171 1.0 intronic rs398034962 IZUMO2 AU NM_152358 exon2 c.1991-69delG 1 1 Uncertain 19_50713713_C->A 19 50713713 50713713 C A snp 703.77 0/1 99 89 56 33 0.37 exonic rs590722 MYH14 AD nonsynonymous SNV NM_024729 exon2 c.C91A p.P31T 0.187899 0.2579 0.113970 0.2324 0.3760 0.01 T 0.0 P -1.067 T 0.162 T 0.037 T CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000037057.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 19_50720793_C->T 19 50720793 50720793 C T snp 4425.77 1/1 99 139 0 139 1.0 intronic rs55934167 MYH14 AD NM_024729 exon3 c.7249-78C>T 0.224042 0.245 Uncertain 19_50720795_G->A 19 50720795 50720795 G A snp 4669.77 1/1 99 144 0 144 1.0 intronic rs10412634 MYH14 AD NM_024729 exon3 c.7249-76G>A 0.499201 0.5813 Uncertain 19_50721074_G->A 19 50721074 50721074 G A snp 1697.77 1/1 99 49 0 49 1.0 intronic rs4802666 MYH14 AD NM_024729 exon3 c.7406+46G>A 0.232228 0.245 0.242419 0.2841 0.2434 Uncertain 19_50726459_T->C 19 50726459 50726459 T C snp 6767.77 1/1 99 243 0 243 1.0 intronic rs654877 MYH14 AD NM_024729 exon5 c.12881-44T>C 0.604034 0.7421 0.607497 0.6261 0.7363 Uncertain 19_50726570_G->A 19 50726570 50726570 G A snp 5129.77 1/1 99 189 0 189 1.0 exonic rs4801822 MYH14 AD synonymous SNV NM_024729 exon5 c.G657A p.A219A 0.472843 0.5804 0.493260 0.6057 0.6230 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000037055.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 19_50727510_T->C 19 50727510 50727510 T C snp 3584.77 1/1 99 126 0 126 1.0 intronic rs56354891 MYH14 AD NM_001077186 exon6 c.13812+76T>C 0.22504 0.247 0.236969 Uncertain 19_50750419_C->T 19 50750419 50750419 C T snp 5290.77 1/1 99 197 0 197 1.0 intronic rs607227 MYH14 AD NM_024729 exon11 c.36757+40C>T 0.705671 0.7897 0.756240 0.7772 0.7944 Uncertain 19_50760934_A->G 19 50760934 50760934 A G snp 260.8 1/1 21 7 0 7 1.0 intronic rs393368 MYH14 AD NM_024729 exon16 c.47121+191A>G 0.572684 0.6736 Uncertain 19_50762418_A->G 19 50762418 50762418 A G snp 4464.77 1/1 99 158 0 158 1.0 exonic rs1651553 MYH14 AD synonymous SNV NM_024729 exon17 c.A2127G p.P709P 0.761182 0.8353 0.737496 0.7719 0.8551 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000037032.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 19_50763886_C->T 19 50763886 50763886 C T snp 7732.77 1/1 99 250 0 250 1.0 intronic rs28482851 MYH14 AD NM_024729 exon18 c.50280-16C>T 0.284545 0.5099 0.231437 0.3167 0.5502 Uncertain 19_50764005_-->GT 19 50764005 50764005 - GT indel 6544.73 1/1 99 209 10 199 0.95 intronic rs149039486 MYH14 AD NM_024729 exon18 c.50350+33insGT 0.3168 0.4581 Uncertain 19_50764079_-->GT 19 50764079 50764079 - GT indel 780.73 1/1 54 43 0 43 1.0 intronic rs140241247 MYH14 AD NM_024729 exon18 c.50350+107insGT Uncertain 19_50764095_C->T 19 50764095 50764095 C T snp 558.77 1/1 45 15 0 15 1.0 intronic rs35658861 MYH14 AD NM_024729 exon18 c.50350+123C>T 0.759984 0.8363 Uncertain 19_50766707_T->C 19 50766707 50766707 T C snp 1219.77 1/1 87 47 0 47 1.0 intronic rs1529492 MYH14 AD NM_024729 exon20 c.53055+30T>C 0.761382 0.8363 0.739502 0.7750 0.8539 Uncertain 19_50770044_G->A 19 50770044 50770044 G A snp 1546.77 0/1 99 153 82 71 0.46 intronic rs3745502 MYH14 AD NM_024729 exon21 c.56511-89G>A 0.180511 0.2579 Uncertain 19_50771322_T->C 19 50771322 50771322 T C snp 83.77 0/1 30 4 1 3 0.75 intronic rs8112720 MYH14 AD NM_024729 exon22 c.57795-95T>C 0.614018 0.5942 Uncertain 19_50771409_A->C 19 50771409 50771409 A C snp 75.77 0/1 99 18 12 6 0.33 intronic rs3745503 MYH14 AD NM_024729 exon22 c.57795-8A>C 0.204273 0.2579 0.124582 0.1999 0.2620 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000037036.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 19_50771609_G->A 19 50771609 50771609 G A snp 835.77 0/1 99 46 14 32 0.7 exonic rs3745504 MYH14 AD synonymous SNV NM_024729 exon22 c.G2895A p.L965L 0.484425 0.3829 0.531393 0.5980 0.5130 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000037038.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 19_50771635_T->C 19 50771635 50771635 T C snp 1352.77 1/1 96 48 0 48 1.0 intronic rs930086 MYH14 AD NM_024729 exon22 c.58002+11T>C 0.864617 0.8522 0.875260 0.8757 0.8518 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000037039.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 19_50775742_A->G 19 50775742 50775742 A G snp 952.77 1/1 69 37 0 37 1.0 intronic rs1651543 MYH14 AD NM_024729 exon25 c.62194-74A>G 0.921925 0.9554 Uncertain 19_50796352_C->A 19 50796352 50796352 C A snp 3882.77 1/1 99 134 0 134 1.0 intronic rs651044 MYH14 AD NM_024729 exon36 c.82867-137C>A 0.899361 1 Uncertain 19_50796905_G->A 19 50796905 50796905 G A snp 447.77 0/1 99 38 17 21 0.55 exonic rs3745509 MYH14 AD synonymous SNV NM_024729 exon37 c.G5307A p.S1769S 0.682109 0.9276 0.614596 0.7480 0.9329 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000037051.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 19_50796960_C->T 19 50796960 50796960 C T snp 447.77 0/1 99 47 27 20 0.43 intronic rs3745510 MYH14 AD NM_024729 exon37 c.83322+16C>T 0.694489 0.9246 0.625656 0.7496 0.9320 Uncertain 19_50805138_C->T 19 50805138 50805138 C T snp 1501.77 0/1 99 88 28 60 0.68 intronic rs3826772 MYH14 AD NM_024729 exon38 c.91504+12C>T 0.750799 0.8056 0.794660 0.8300 0.8149 Uncertain 19_50812221_A->G 19 50812221 50812221 A G snp 387.77 1/1 30 11 0 11 1.0 intronic rs889002 MYH14 AD NM_024729 exon40 c.98639-40A>G 0.876997 0.9802 0.829518 0.8476 0.9835 Uncertain 19_50813169_A->C 19 50813169 50813169 A C snp 1392.77 0/1 99 124 64 60 0.48 UTR3 rs12978083 MYH14 AD 0.248003 0.1538 0.3690 0.2138 Uncertain 19_50813263_T->G 19 50813263 50813263 T G snp 943.77 1/1 69 29 0 29 1.0 UTR3 rs627491 MYH14 AD 0.82508 0.8115 Uncertain 19_50826569_C->T 19 50826569 50826569 C T snp 1640.77 0/1 99 161 90 71 0.44 exonic rs2301357 KCNC3 AD synonymous SNV NM_004977 exon2 c.G1641A p.S547S 0.0471246 0.1508 0.004690 0.0243 0.1641 ID=COSM3692991;OCCURENCE=1(large_intestine) Uncertain 19_50832152_T->C 19 50832152 50832152 T C snp 984.77 1/1 75 34 0 34 1.0 exonic rs375912738 KCNC3 AD nonsynonymous SNV NM_004977 exon1 c.A188G p.D63G 1 . 0.46 T 1.000 P 0.086 D 0.0 T 0.0 T Pathogenic 19_50863023_A->G 19 50863023 50863023 A G snp 1195.77 0/1 99 76 33 43 0.57 exonic rs638294 NAPSA AU synonymous SNV NM_004851 exon6 c.T765C p.P255P 0.347843 0.1716 0.367215 0.3442 0.1439 Uncertain 19_50865535_A->G 19 50865535 50865535 A G snp 2707.77 0/1 99 225 118 107 0.48 exonic rs676314 NAPSA AU nonsynonymous SNV NM_004851 exon2 c.T119C p.I40T 0.384385 0.1706 0.406658 0.3554 0.1440 1 T 0.0 P -0.964 T 0.0 T 0.001 T Pathogenic 19_50868754_A->G 19 50868754 50868754 A G snp 440.77 0/1 99 41 20 21 0.51 intronic rs1274517 NAPSA AU NM_004851 exon9 c.6986-41A>G 0.384385 0.1706 0.407966 0.3548 0.1440 Uncertain 19_50880741_T->C 19 50880741 50880741 T C snp 776.77 1/1 57 26 0 26 1.0 intronic rs2695121 NR1H2 AU 0.775759 0.871 Uncertain 19_50881326_T->C 19 50881326 50881326 T C snp 207.77 0/1 99 16 9 7 0.44 intronic rs28514894 NR1H2 AU NM_007121 exon5 c.543-79T>C 0.347843 0.1617 Uncertain 19_50881820_-->AAC 19 50881820 50881820 - AAC indel 4673.27 0/1 1 164 13 151 0.92 exonic rs34296657 NR1H2 AU nonframeshift insertion NM_007121 exon6 c.514_515insAAC p.K172delinsKQ 0.548123 0.7857 0.783014 0.6187 0.8273 ID=COSM1481363;OCCURENCE=1(breast) Uncertain 19_50881822_-->CAG 19 50881822 50881822 - CAG indel 5222.73 1/1 99 166 0 166 1.0 exonic rs34296657 NR1H2 AU nonframeshift insertion NM_007121 exon6 c.516_517insCAG p.K172delinsKQ 0.396765 0.1677 0.3631 0.1457 ID=COSM1481364;OCCURENCE=14(breast) Uncertain 19_50882169_A->G 19 50882169 50882169 A G snp 670.77 1/1 51 19 0 19 1.0 intronic rs2248949 NR1H2 AU NM_007121 exon7 c.1396-89A>G 0.722843 0.8661 Uncertain 19_50882172_C->T 19 50882172 50882172 C T snp 216.77 0/1 99 20 12 8 0.4 intronic rs41432149 NR1H2 AU NM_007121 exon7 c.1396-86C>T 0.271166 0.1706 Uncertain 19_50882619_T->C 19 50882619 50882619 T C snp 259.77 0/1 99 15 7 8 0.53 intronic rs1405655 NR1H2 AU NM_007121 exon7 c.1576+181T>C 0.366813 0.1706 Uncertain 19_50882918_G->C 19 50882918 50882918 G C snp 830.77 0/1 99 45 19 26 0.58 intronic rs2303045 NR1H2 AU NM_007121 exon8 c.2174-118G>C 0.271366 0.1726 Uncertain 19_50885201_C->T 19 50885201 50885201 C T snp 1059.77 0/1 99 79 37 42 0.53 intronic rs2303044 NR1H2 AU NM_007121 exon9 c.4360-21C>T 0.126597 0.1478 0.082788 0.1662 0.1713 Uncertain 19_50902331_T->C 19 50902331 50902331 T C snp 69.77 0/1 98 19 13 6 0.32 intronic rs1726787 POLD1 AD NM_002691 exon2 c.202+21T>C 0.1877 0.1597 0.134115 0.1638 0.1329 Uncertain 19_50905042_G->A 19 50905042 50905042 G A snp 1102.77 0/1 99 107 61 46 0.43 exonic rs20582 POLD1 AD synonymous SNV NM_002691 exon4 c.G324A p.A108A 0.188898 0.1607 0.144448 0.1150 0.1400 Uncertain 19_50905074_G->A 19 50905074 50905074 G A snp 1405.77 0/1 99 138 75 63 0.46 exonic rs1726801 POLD1 AD nonsynonymous SNV NM_002691 exon4 c.G356A p.R119H 0.188299 0.1607 0.148000 0.1154 0.1391 0.6 T 0.000 P -0.952 T 0.001 T 0.001 T Pathogenic 19_50905189_G->T 19 50905189 50905189 G T snp 1989.77 0/1 99 162 73 89 0.55 intronic rs1726802 POLD1 AD NM_002691 exon4 c.3073+8G>T 0.186901 0.1597 0.148701 0.1145 0.1383 Uncertain 19_50906529_G->A 19 50906529 50906529 G A snp 251.77 0/1 99 15 5 10 0.67 intronic rs1673043 POLD1 AD NM_002691 exon9 c.4368+53G>A 0.292532 0.1657 Uncertain 19_50906655_T->C 19 50906655 50906655 T C snp 1229.77 0/1 99 83 43 40 0.48 intronic rs192627427 POLD1 AD NM_002691 exon10 c.4641-94T>C 0.00119808 0.006 Uncertain 19_50906736_G->T 19 50906736 50906736 G T snp 3474.77 0/1 99 250 120 130 0.52 intronic rs200111674 POLD1 AD NM_002691 exon10 c.4641-13G>T 0.000199681 0.001 9.073e-05 0.0007 Uncertain 19_50909389_T->G 19 50909389 50909389 T G snp 1141.77 0/1 99 91 43 48 0.53 intronic rs1673041 POLD1 AD NM_002691 exon11 c.7330-49T>G 0.704473 0.3075 0.810857 0.7349 0.2761 Uncertain 19_50919828_A->G 19 50919828 50919828 A G snp 1120.77 0/1 99 91 44 47 0.52 intronic rs3218760 POLD1 AD NM_002691 exon24 c.17758-38A>G 0.279752 0.1677 0.195820 0.2329 0.2225 Uncertain 19_50921272_T->C 19 50921272 50921272 T C snp 833.77 0/1 99 98 58 40 0.41 UTR3 rs2445837 POLD1 AD 0.305112 0.1647 Uncertain 19_50922370_A->G 19 50922370 50922370 A G snp 308.77 0/1 99 21 7 14 0.67 intronic rs2244095 SPIB AU NM_003121 exon1 c.23+128A>G 0.784744 0.3542 Uncertain 19_50978751_C->T 19 50978751 50978751 C T snp 529.77 0/1 99 46 21 25 0.54 intronic rs199597534 FAM71E1 AU NM_138411 exon3 c.7831+39C>T 0.000399361 0.002 7.667e-05 0.0010 0.54 T 1.000 N -0.923 T 0.005 T 0.0 T Uncertain 19_51128661_T->C 19 51128661 51128661 T C snp 1636.77 0/1 99 154 81 73 0.47 exonic rs16986142 SYT3 AU synonymous SNV NM_032298 exon6 c.A1563G p.V521V 0.697684 0.3095 0.853638 0.7641 0.375 Uncertain 19_51128856_A->C 19 51128856 51128856 A C snp 442.77 0/1 99 50 30 20 0.4 intronic rs10426057 SYT3 AU NM_001160328 exon4 c.2875+35A>C 0.704073 0.3085 0.856275 0.7824 0.3014 Uncertain 19_51140654_G->A 19 51140654 51140654 G A snp 1249.77 0/1 99 140 82 58 0.41 exonic rs3815749 SYT3 AU synonymous SNV NM_032298 exon1 c.C15T p.Y5Y 0.102037 0.0982 0.137936 0.1477 0.0933 Uncertain 19_51140689_T->C 19 51140689 51140689 T C snp 1186.77 0/1 99 139 88 51 0.37 splicing rs2287820 SYT3 AU NM_001160329 exon9 c.14737+6T>C 0.126997 0.0972 0.165026 0.1556 0.0934 Pathogenic 19_51140752_T->C 19 51140752 51140752 T C snp 756.77 0/1 99 96 55 41 0.43 UTR5 rs2287819 SYT3 AU 0.113818 0.0972 Uncertain 19_51159571_T->G 19 51159571 51159571 T G snp 3384.77 1/1 99 114 0 114 1.0 exonic rs4801844 C19orf81 AU nonsynonymous SNV NM_001195076 exon3 c.T229G p.S77A 0.856629 0.755 0.8711 0.685 1 T 0.000 P -0.956 T Pathogenic 19_51170706_A->G 19 51170706 51170706 A G snp 862.77 0/1 99 60 28 32 0.53 exonic rs3745521 SHANK1 AU nonsynonymous SNV NM_016148 exon22 c.T4511C p.V1504A 0.717851 0.4494 0.855333 0.7301 0.4600 0.66 T 0.0 P -1.036 T 0.0 T 0.0 T Pathogenic 19_51171188_G->A 19 51171188 51171188 G A snp 700.77 0/1 99 52 27 25 0.48 exonic rs750578 SHANK1 AU synonymous SNV NM_016148 exon22 c.C4029T p.T1343T 0.30611 0.3185 0.235094 0.6117 0.5026 Uncertain 19_51190155_G->A 19 51190155 51190155 G A snp 1141.77 0/1 99 86 41 45 0.52 intronic rs573266824 SHANK1 AU NM_016148 exon5 c.24848+86G>A 0.000199681 0.001 Uncertain 19_51200073_G->A 19 51200073 51200073 G A snp 214.84 1/1 18 6 0 6 1.0 intronic rs4801848 SHANK1 AU NM_016148 exon10 c.35131-279G>A 0.717652 0.4306 Uncertain 19_51200466_G->A 19 51200466 51200466 G A snp 352.77 0/1 99 48 33 15 0.31 intronic rs4802735 SHANK1 AU NM_016148 exon10 c.35158+87G>A 0.142173 0.1022 0.105563 Uncertain 19_51217550_G->A 19 51217550 51217550 G A snp 1460.77 0/1 99 158 93 65 0.41 splicing rs3745530 SHANK1 AU NM_016148 exon20 c.52326+3G>A 0.403554 0.2331 0.420806 0.4398 0.2061 Pathogenic 19_51228746_C->T 19 51228746 51228746 C T snp 5540.77 1/1 99 205 0 205 1.0 UTR3 rs13866 CLEC11A AU 0.275359 0.3323 0.196987 0.3461 0.4004 Uncertain 19_51228802_T->G 19 51228802 51228802 T G snp 3172.77 1/1 99 114 0 114 1.0 UTR3 rs1053020 CLEC11A AU 0.674321 0.378 Uncertain 19_51261855_A->G 19 51261855 51261855 A G snp 2888.77 0/1 99 233 116 117 0.5 intergenic rs57321543 CLEC11A AU 0.134385 0.1766 Uncertain 19_51261951_G->T 19 51261951 51261951 G T snp 2434.77 0/1 99 203 95 108 0.53 intergenic rs11880363 CLEC11A AU 0.353235 0.2758 Uncertain 19_51262620_A->C 19 51262620 51262620 A C snp 2725.77 0/1 71 127 13 114 0.9 intergenic rs10424138 CLEC11A AU 0.784744 0.4603 Uncertain 19_51262668_C->T 19 51262668 51262668 C T snp 576.77 0/1 99 95 70 25 0.26 intergenic rs12983009 CLEC11A AU 0.56849 0.4266 Uncertain 19_51274899_T->C 19 51274899 51274899 T C snp 1040.77 0/1 99 129 83 46 0.36 exonic rs201932640 GPR32 AU nonsynonymous SNV NM_001506 exon1 c.T1042C p.C348R 0.000998403 0.002 0.000231 0.0003 0.0030 0.44 T 1.000 N -1.002 T 0.191 T 0.044 T Pathogenic 19_51275044_A->G 19 51275044 51275044 A G snp 30.77 0/1 33 3 1 2 0.67 downstream rs12971591 GPR32 AU Uncertain 19_51294003_T->G 19 51294003 51294003 T G snp 940.77 1/1 69 33 0 33 1.0 intronic rs1978605 ACPT AU NM_033068 exon3 c.359-27T>G 0.544329 0.7986 0.425692 0.4594 0.8040 Uncertain 19_51297312_C->G 19 51297312 51297312 C G snp 575.77 0/1 99 47 26 21 0.45 intronic rs45461494 ACPT AU NM_033068 exon8 c.3556+85C>G 0.0463259 0.0188 Uncertain 19_51297825_G->A 19 51297825 51297825 G A snp 1613.77 0/1 99 142 71 71 0.5 exonic rs55716643 ACPT AU nonsynonymous SNV NM_033068 exon9 c.G973A p.A325T 0.329872 0.6538 0.235122 0.3042 0.6475 0.3 T 0.0 P -0.926 T 0.011 T 0.001 T Pathogenic 19_51297826_C->A 19 51297826 51297826 C A snp 1585.77 0/1 99 142 71 71 0.5 exonic rs55735528 ACPT AU nonsynonymous SNV NM_033068 exon9 c.C974A p.A325D 0.329872 0.6538 0.234968 0.3041 0.6475 0.56 T 0.0 P -0.918 T 0.0 T 0.0 T Pathogenic 19_51297944_A->G 19 51297944 51297944 A G snp 2413.77 1/1 99 78 0 78 1.0 intronic rs266123 ACPT AU NM_033068 exon10 c.4371-98A>G 0.551118 0.7986 Uncertain 19_51301395_C->T 19 51301395 51301395 C T snp 1250.77 0/1 99 115 61 54 0.47 exonic rs4801853 C19orf48 AU nonsynonymous SNV NM_199249 exon5 c.G311A p.G104E 0.329872 0.6538 0.237813 0.3076 0.6570 0 D 0.0 P -0.950 T 0.97 D 0.354 D ID=CM109810;DIS=Multiple sclerosis, protection, association;TAG=DP;PUB=20574445 DP Pathogenic 19_51301456_G->A 19 51301456 51301456 G A snp 2461.77 0/1 99 205 101 104 0.51 exonic rs4802741 C19orf48 AU nonsynonymous SNV NM_199249 exon5 c.C250T p.R84C 0.329872 0.6538 0.238044 0.3113 0.6574 0.13 T 0.0 P -0.993 T 0.002 T 0.001 T Pathogenic 19_51302066_A->G 19 51302066 51302066 A G snp 38.77 0/1 67 5 3 2 0.4 UTR5 rs3745528 C19orf48 AU 0.330072 0.6538 Uncertain 19_51302154_G->A 19 51302154 51302154 G A snp 649.77 0/1 99 63 34 29 0.46 UTR5 rs1043315 C19orf48 AU 0.339657 0.6538 Uncertain 19_51302202_T->A 19 51302202 51302202 T A snp 1385.77 0/1 99 114 55 59 0.52 UTR5 rs3745526 C19orf48 AU 0.330072 0.6538 Uncertain 19_51302455_-->C 19 51302455 51302455 - C indel 1021.73 0/1 99 90 40 50 0.56 intronic rs143867891 C19orf48 AU NM_001290149 exon2 c.1177-73insC 0.0784744 0.0188 Uncertain 19_51302473_-->AAG 19 51302473 51302473 - AAG indel 3440.73 1/1 99 64 0 64 1.0 intronic rs3833237 C19orf48 AU NM_001290149 exon2 c.1177-55insAAG 0.553115 0.7986 Uncertain 19_51302633_AG->- 19 51302633 51302634 AG - indel 499.73 0/1 99 25 13 12 0.48 intronic rs58572527 C19orf48 AU NM_032712 exon2 c.1263+19_1263+20delAG 0.194089 0.5873 Uncertain 19_51305784_C->T 19 51305784 51305784 C T snp 827.77 1/1 60 28 0 28 1.0 UTR5 rs2560931 C19orf48 AU 0.55012 0.7996 Uncertain 19_51321813_A->G 19 51321813 51321813 A G snp 2890.77 1/1 99 104 1 103 0.99 ncRNA_exonic rs2411334 MGC45922 AU 0.595647 0.8056 0.5784 0.8084 Uncertain 19_51322312_T->C 19 51322312 51322312 T C snp 339.77 0/1 99 22 11 11 0.5 downstream rs5519 KLK1 AU 0.33147 0.5903 Uncertain 19_51323232_T->C 19 51323232 51323232 T C snp 2198.77 0/1 99 225 128 97 0.43 exonic rs5517 KLK1 AU nonsynonymous SNV NM_002257 exon4 c.A556G p.K186E 0.339457 0.5972 0.244118 0.3197 0.5836 1 T 0.0 P -1.010 T 0.011 T 0.025 T ID=CM074309;DIS=Essential hypertension, association with;TAG=DP;PUB=17762646 DP Pathogenic 19_51323274_G->A 19 51323274 51323274 G A snp 2644.77 0/1 99 249 134 115 0.46 exonic rs193199844 KLK1 AU nonsynonymous SNV NM_002257 exon4 c.C514T p.L172F 0.0002 0.0030 0 D 0.820 D 0.922 D 0.987 D 0.89 D Pathogenic 19_51323473_C->G 19 51323473 51323473 C G snp 6247.77 1/1 99 231 0 231 1.0 exonic rs5516 KLK1 AU nonsynonymous SNV NM_002257 exon3 c.G433C p.E145Q 0.692692 0.8036 0.655390 0.6857 0.7974 0.51 T 0.0 P -0.987 T 0.0 T 0.005 T ID=CM116449;DIS=Higher systolic blood pressure, association with;TAG=DP;PUB=20613781 DP Pathogenic 19_51323501_A->G 19 51323501 51323501 A G snp 5477.77 1/1 99 199 0 199 1.0 exonic rs1054713 KLK1 AU synonymous SNV NM_002257 exon3 c.T405C p.D135D 0.727236 0.8026 0.693680 0.6940 0.7970 Uncertain 19_51323881_T->G 19 51323881 51323881 T G snp 54.74 1/1 6 2 0 2 1.0 intronic rs2659103 KLK1 AU NM_002257 exon3 c.1250+182T>G 0.724241 0.8065 Uncertain 19_51330423_C->G 19 51330423 51330423 C G snp 1198.77 0/1 99 86 40 46 0.53 splicing rs61752560 KLK15 AU NM_017509 exon3 c.1366+6C>G 0.160144 0.1032 0.185047 0.2357 0.1154 Pathogenic 19_51330932_G->T 19 51330932 51330932 G T snp 837.77 0/1 99 57 23 34 0.6 exonic rs3745522 KLK15 AU synonymous SNV NM_017509 exon2 c.C183A p.A61A 0.279952 0.5198 0.192136 0.2945 0.5051 Uncertain 19_51331204_-->TG 19 51331204 51331204 - TG indel 882.73 1/1 90 30 0 30 1.0 intronic rs55814821 KLK15 AU NM_017509 exon4 c.2020+133insTG Uncertain 19_51331205_G->T 19 51331205 51331205 G T snp 940.77 1/1 69 28 0 28 1.0 intronic rs201622928 KLK15 AU NM_017509 exon4 c.2020+134G>T Uncertain 19_51358333_C->A 19 51358333 51358333 C A snp 1096.77 0/1 99 95 48 47 0.49 intronic rs266881 KLK3 AU NM_001030048 exon1 c.46+76C>A 0.381589 0.1429 0.4898 0.2318 Uncertain 19_51361644_A->G 19 51361644 51361644 A G snp 2177.77 0/1 99 177 86 91 0.51 intronic rs1810020 KLK3 AU NM_001030048 exon4 c.3503-70A>G 0.763978 0.5546 Uncertain 19_51361937_G->A 19 51361937 51361937 G A snp 895.77 1/1 66 25 0 25 1.0 intronic rs266875 KLK3 AU NM_001030048 exon4 c.3640+86G>A 0.635783 0.5228 0.5749 0.4944 Uncertain 19_51363026_C->T 19 51363026 51363026 C T snp 182.77 0/1 99 16 10 6 0.38 intronic rs2659122 KLK3 AU NM_001030048 exon5 c.5016-201C>T 0.567891 0.4911 Uncertain 19_51363398_C->T 19 51363398 51363398 C T snp 1785.77 0/1 99 198 116 82 0.41 UTR3 rs1058205 KLK3 AU 0.63099 0.5585 0.747962 0.7518 0.5986 Uncertain 19_51363448_A->G 19 51363448 51363448 A G snp 991.77 0/1 99 123 77 46 0.37 UTR3 rs1058274 KLK3 AU 0.204073 0.0575 Uncertain 19_51379893_C->T 19 51379893 51379893 C T snp 2765.77 0/1 99 240 123 117 0.49 exonic rs198972 KLK2 AU synonymous SNV NM_001256080 exon2 c.C66T p.L22L 0.442093 0.2877 0.414655 0.3553 0.3020 Uncertain 19_51380110_T->A 19 51380110 51380110 T A snp 1782.77 0/1 99 174 101 73 0.42 intronic rs6070 KLK2 AU NM_005551 exon4 c.3398-17T>A 0.355431 0.2133 0.376288 0.3335 0.2163 Uncertain 19_51380445_G->T 19 51380445 51380445 G T snp 920.77 0/1 99 68 33 35 0.51 intronic rs8105275 KLK2 AU NM_001002231 exon4 c.3572+144G>T 0.213658 0.1815 0.3393 0.3295 Uncertain 19_51381777_C->T 19 51381777 51381777 C T snp 2479.77 0/1 99 243 136 107 0.44 exonic rs198977 KLK2 AU nonsynonymous SNV NM_001256080 exon4 c.C442T p.R148W 0.281749 0.1657 0.307781 0.2470 0.1840 0.05 T 0.0 P -0.903 T 0.808 T 0.067 P Pathogenic 19_51411636_G->T 19 51411636 51411636 G T snp 1989.77 1/1 99 66 0 66 1.0 exonic rs2569527 KLK4 AR nonsynonymous SNV NM_004917 exon4 c.C591A p.H197Q 0.998403 1 0.997001 0.9962 0.9999 0.76 T 0.0 P -1.012 T 0.0 T 0.0 T Pathogenic 19_51412366_G->- 19 51412366 51412366 G - indel 238.77 1/1 21 7 0 7 1.0 intronic rs11344278 KLK4 AR NM_001302961 exon4 c.2306-129delG 1 1 Uncertain 19_51413790_G->A 19 51413790 51413790 G A snp 479.77 0/1 99 49 29 20 0.41 intronic rs2242669 KLK4 AR NM_004917 exon5 c.3744-143G>A 0.221446 0.1577 Uncertain 19_51413906_A->T 19 51413906 51413906 A T snp 1731.77 0/1 99 194 114 80 0.41 intronic rs2978642 KLK4 AR NM_004917 exon5 c.3744-27A>T 0.362819 0.2192 0.321066 0.3305 0.2577 Uncertain 19_51447065_T->C 19 51447065 51447065 T C snp 1346.77 1/1 99 40 0 40 1.0 intronic rs1701949 KLK5 AU NM_012427 exon1 c.156+23T>C 0.808706 0.9157 0.706244 0.7021 0.9016 Uncertain 19_51452250_T->C 19 51452250 51452250 T C snp 2404.77 1/1 99 81 0 81 1.0 exonic rs183854 KLK5 AU nonsynonymous SNV NM_001077492 exon4 c.A457G p.N153D 0.9998 1 0.999692 0.9994 1 1 T 0.227 P -0.948 T 0.0 T 0.0 T Pathogenic 19_51455814_A->C 19 51455814 51455814 A C snp 1725.77 0/1 99 155 72 83 0.54 intronic rs2739412 KLK5 AU NM_012427 exon5 c.8954-26A>C 0.514776 0.7163 0.422190 0.4574 0.7461 Uncertain 19_51456005_T->G 19 51456005 51456005 T G snp 407.77 0/1 99 30 15 15 0.5 UTR5 rs2659093 KLK5 AU 0.502796 0.7183 Uncertain 19_51456015_G->A 19 51456015 51456015 G A snp 349.77 0/1 99 25 12 13 0.52 UTR5 rs11553092 KLK5 AU 0.392772 0.7183 Uncertain 19_51465200_-->C 19 51465200 51465200 - C indel 90.73 0/1 99 15 9 6 0.4 intronic rs112376245 KLK6 AU NM_002774 exon2 c.2717+64insC 0.287141 0.2946 Uncertain 19_51466516_A->G 19 51466516 51466516 A G snp 627.77 0/1 99 44 20 24 0.55 intronic rs1654537 KLK6 AU NM_002774 exon3 c.4138-41A>G 0.336262 0.3194 0.324312 0.3581 0.3374 Uncertain 19_51480672_GGTT->- 19 51480672 51480675 GGTT - indel 4001.73 1/1 99 59 0 59 1.0 UTR3 rs59354651 KLK7 AU 0.639177 0.5575 Uncertain 19_51482969_C->T 19 51482969 51482969 C T snp 851.77 1/1 63 25 0 25 1.0 intronic rs1701924 KLK7 AU NM_139277 exon2 c.2252-74C>T 0.514377 0.5099 Uncertain 19_51483329_C->G 19 51483329 51483329 C G snp 178.9 1/1 15 5 0 5 1.0 intronic rs3745533 KLK7 AU NM_139277 exon2 c.2389+149C>G 0.402356 0.4484 Uncertain 19_51484984_C->T 19 51484984 51484984 C T snp 1486.77 1/1 99 53 0 53 1.0 intronic rs1991820 KLK7 AU NM_139277 exon4 c.4231-38C>T 0.386382 0.4474 0.404359 0.4866 0.4747 Uncertain 19_51484990_T->C 19 51484990 51484990 T C snp 1564.77 1/1 99 56 0 56 1.0 intronic rs1991819 KLK7 AU NM_139277 exon4 c.4231-32T>C 0.51877 0.4871 0.561322 0.5877 0.5237 Uncertain 19_51485013_C->T 19 51485013 51485013 C T snp 1892.77 1/1 99 75 0 75 1.0 intronic rs1991818 KLK7 AU NM_139277 exon4 c.4231-9C>T 0.390176 0.4474 0.442415 0.5506 0.5292 Uncertain 19_51485194_C->T 19 51485194 51485194 C T snp 1845.77 1/1 99 66 1 65 0.98 intronic rs1654523 KLK7 AU NM_139277 exon4 c.4379+24C>T 0.945487 1 0.915039 0.9278 0.9993 Uncertain 19_51485622_A->G 19 51485622 51485622 A G snp 3631.77 1/1 99 137 0 137 1.0 exonic rs2659067 KLK7 AU synonymous SNV NM_005046 exon2 c.T34C p.L12L 0.957867 1 0.927319 0.9315 0.9994 Uncertain 19_51487067_T->C 19 51487067 51487067 T C snp 2555.77 1/1 99 98 0 98 1.0 intronic rs1275221 KLK7 AU NM_139277 exon6 c.6280-4T>C 0.562899 0.4762 0.5939 0.4545 Uncertain 19_51487175_T->G 19 51487175 51487175 T G snp 1546.77 1/1 99 54 0 54 1.0 UTR5 rs1624358 KLK7 AU 0.958067 1 0.9337 1 Uncertain 19_51499116_A->G 19 51499116 51499116 A G snp 93.28 1/1 9 3 0 3 1.0 downstream rs1654542 KLK8 AU 0.386382 0.2391 0.447438 Uncertain 19_51499195_T->C 19 51499195 51499195 T C snp 392.77 0/1 99 31 16 15 0.48 downstream rs1612902 KLK8 AU 0.386781 0.2391 0.447876 Uncertain 19_51500901_C->T 19 51500901 51500901 C T snp 77.77 0/1 69 5 2 3 0.6 intronic rs1654539 KLK8 AU NM_144506 exon2 c.1692-105C>T 0.427516 0.2411 Uncertain 19_51500918_-->C 19 51500918 51500918 - C indel 132.73 0/1 99 9 4 5 0.56 intronic rs35747818 KLK8 AU NM_144506 exon2 c.1692-88insC 0.427117 0.2411 Uncertain 19_51503524_T->C 19 51503524 51503524 T C snp 1119.77 0/1 99 76 35 41 0.54 intronic rs1701946 KLK8 AU NM_007196 exon3 c.4200+10T>C 0.535144 0.3909 0.558742 0.4744 0.4193 Uncertain 19_51504075_A->T 19 51504075 51504075 A T snp 293.77 0/1 99 26 14 12 0.46 intronic rs1701947 KLK8 AU NM_144505 exon4 c.4660+101A>T 0.489417 0.4077 Uncertain 19_51518584_T->C 19 51518584 51518584 T C snp 50.74 1/1 6 2 0 2 1.0 intronic rs2075692 KLK10 AU NM_002776 exon2 c.617-88T>C 0.0726837 0.1538 Uncertain 19_51519114_C->T 19 51519114 51519114 C T snp 314.77 0/1 99 18 6 12 0.67 intronic rs2075691 KLK10 AU NM_002776 exon3 c.1082-23C>T 0.557508 0.5357 0.610712 0.6068 0.5628 Uncertain 19_51519236_A->G 19 51519236 51519236 A G snp 692.77 0/1 99 90 58 32 0.36 exonic rs2075690 KLK10 AU nonsynonymous SNV NM_001077500 exon4 c.T446C p.L149P 0.564696 0.5357 0.604357 0.5700 0.5660 0.16 T 0.000 P -0.908 T 0.033 T 0.01 T Pathogenic 19_51519259_C->T 19 51519259 51519259 C T snp 830.77 0/1 99 113 75 38 0.34 exonic rs2075689 KLK10 AU synonymous SNV NM_001077500 exon4 c.G423A p.L141L 0.565495 0.5327 0.604318 0.5533 0.5546 Uncertain 19_51519364_T->G 19 51519364 51519364 T G snp 1040.77 0/1 99 129 75 54 0.42 exonic rs2075688 KLK10 AU synonymous SNV NM_001077500 exon4 c.A318C p.G106G 0.689097 0.6468 0.720169 0.6385 0.6487 Uncertain 19_51519451_T->C 19 51519451 51519451 T C snp 567.77 0/1 99 53 28 25 0.47 intronic rs2075687 KLK10 AU NM_002776 exon3 c.1357+39T>C 0.604433 0.5367 0.648065 0.5549 0.5138 Uncertain 19_51520487_A->C 19 51520487 51520487 A C snp 817.77 0/1 99 79 42 37 0.47 exonic rs3745535 KLK10 AU nonsynonymous SNV NM_001077500 exon3 c.T148G p.S50A 0.694289 0.6548 0.736436 0.6449 0.6516 0.55 T 0.0 P -0.984 T 0.0 T 0.003 T Pathogenic 19_51520629_G->A 19 51520629 51520629 G A snp 579.77 0/1 99 44 20 24 0.55 intronic rs3745536 KLK10 AU NM_002776 exon4 c.2491+83G>A 0.0105831 0.0496 0.001095 Uncertain 19_51522291_G->C 19 51522291 51522291 G C snp 460.77 0/1 99 42 21 21 0.5 intronic rs2304157 KLK10 AU NM_002776 exon5 c.4243-7G>C 0.678714 0.6488 0.616917 0.6551 0.6551 Uncertain 19_51525703_T->C 19 51525703 51525703 T C snp 794.77 0/1 99 64 28 36 0.56 UTR3 rs1048344 KLK11 AU 0.3123 0.4187 Uncertain 19_51530693_G->A 19 51530693 51530693 G A snp 3660.77 1/1 99 123 0 123 1.0 intronic rs1474520 KLK11 AU NM_144947 exon6 c.4912-19G>A 0.741414 0.9623 0.725434 0.7448 0.9710 Uncertain 19_51535130_A->G 19 51535130 51535130 A G snp 6680.77 1/1 99 246 0 246 1.0 splicing rs3745540 KLK12 AU NM_145894 exon3 c.2574-1A>G 0.534145 0.6369 0.516395 0.5810 0.6537 1.0 P ID=CS042543;DIS=Kallikrein deficiency;TAG=DFP;PUB=15300858 DFP Pathogenic 19_51535460_-->CC 19 51535460 51535460 - CC indel 732.73 1/1 45 15 0 15 1.0 intronic rs10635364 KLK12 AU NM_145894 exon3 c.2834+69insCC 0.638978 0.6359 Uncertain 19_51537682_C->A 19 51537682 51537682 C A snp 844.77 1/1 63 30 0 30 1.0 intronic rs3865443 KLK12 AU NM_145894 exon5 c.5283-158C>A 0.314097 0.619 0.3766 0.6846 Uncertain 19_51537903_-->A 19 51537903 51537903 - A indel 596.73 1/1 51 19 0 19 1.0 intronic rs71185791 KLK12 AU NM_145894 exon5 c.5339+7insA 0.360224 0.62 0.278159 0.3144 0.6470 Uncertain 19_51563965_G->A 19 51563965 51563965 G A snp 356.78 1/1 27 11 0 11 1.0 intronic rs2569474 KLK13 AU NM_015596 exon4 c.4033+89G>A 0.828275 0.9802 Uncertain 19_51566873_G->A 19 51566873 51566873 G A snp 1327.77 1/1 96 48 0 48 1.0 intronic rs10426620 KLK13 AU NM_015596 exon5 c.8429-1399G>A 0.473043 0.6607 0.4702 0.7020 Uncertain 19_51602298_C->G 19 51602298 51602298 C G snp 1330.77 0/1 99 110 51 59 0.54 exonic rs12983578 CTU1 AU nonsynonymous SNV NM_145232 exon3 c.G607C p.E203Q 0.0712859 0.0625 0.079541 0.1298 0.0912 0.11 T 0.996 P -1.067 T 0.997 D 0.941 D Pathogenic 19_51633052_T->C 19 51633052 51633052 T C snp 204.8 0/1 21 8 1 7 0.88 intronic rs2569446 SIGLEC9 AU NM_014441 exon7 c.4916-95T>C 0.995407 1 Uncertain 19_51646187_C->A 19 51646187 51646187 C A snp 456.77 0/1 99 33 19 14 0.42 intronic rs3793436 SIGLEC7 AU NM_001277201 exon1 c.433+128C>A 0.0589058 0.1339 Uncertain 19_51647519_C->G 19 51647519 51647519 C G snp 632.77 1/1 48 16 0 16 1.0 intronic rs273677 SIGLEC7 AU NM_014385 exon2 c.2036-143C>G 0.998403 0.9931 Uncertain 19_51656218_G->C 19 51656218 51656218 G C snp 257.77 0/1 99 26 16 10 0.38 ncRNA_exonic rs273661 LOC101928517 AU 0.756589 0.5744 Uncertain 19_51656454_A->T 19 51656454 51656454 A T snp 1045.77 0/1 99 81 34 47 0.58 exonic rs273662 SIGLEC7 AU synonymous SNV NM_016543 exon6 c.A1077T p.G359G 0.716054 0.5744 0.824389 0.8559 0.6030 Uncertain 19_51670667_G->A 19 51670667 51670667 G A snp 1183.77 0/1 99 106 54 52 0.49 ncRNA_exonic rs12460779 SIGLEC17P AU 0.0415335 0.0982 0.0274 0.2167 0.1 T -1.022 T Uncertain 19_51728477_C->T 19 51728477 51728477 C T snp 1580.77 0/1 99 123 57 66 0.54 exonic rs12459419 CD33 AU nonsynonymous SNV NM_001772 exon2 c.C41T p.A14V 0.210663 0.1855 0.230355 0.2939 0.1792 0.12 T 0.000 P -0.889 T 0.766 T 0.283 P ID=CS138307;DIS=Alzheimer disease risk, association with;TAG=DFP;PUB=23946390 DFP Pathogenic 19_51767205_C->T 19 51767205 51767205 C T snp 2908.77 1/1 99 103 0 103 1.0 UTR5 rs6509523 SIGLECL1 AU 0.576478 0.5079 Uncertain 19_51767485_A->G 19 51767485 51767485 A G snp 216.84 1/1 18 6 0 6 1.0 intronic rs875283 SIGLECL1 AU NM_173635 exon2 c.22+137A>G 0.594449 0.5139 Uncertain 19_51768967_G->T 19 51768967 51768967 G T snp 1499.77 0/1 99 105 49 56 0.53 intronic rs1875425 SIGLECL1 AU NM_173635 exon4 c.1704-63G>T 0.23143 0.3145 Uncertain 19_51769145_T->C 19 51769145 51769145 T C snp 877.77 0/1 99 84 45 39 0.46 intronic rs10410689 SIGLECL1 AU NM_173635 exon4 c.1810+9T>C 0.27516 0.2738 0.197140 0.1739 0.2668 Uncertain 19_51769154_T->A 19 51769154 51769154 T A snp 739.77 0/1 99 74 41 33 0.45 intronic rs10410697 SIGLECL1 AU NM_173635 exon4 c.1810+18T>A 0.264776 0.2738 0.179379 0.1693 0.2667 Uncertain 19_51828487_T->C 19 51828487 51828487 T C snp 141.03 1/1 12 4 0 4 1.0 intronic rs10403450 IGLON5 AU NM_001101372 exon4 c.13498-112T>C 0.563898 0.5585 Uncertain 19_51828595_C->T 19 51828595 51828595 C T snp 695.77 0/1 99 71 41 30 0.42 splicing rs60865738 IGLON5 AU NM_001101372 exon4 c.13498-4C>T 0.180312 0.2381 0.123874 0.1872 0.2483 Pathogenic 19_51828848_G->A 19 51828848 51828848 G A snp 613.77 0/1 99 53 28 25 0.47 intronic rs12979633 IGLON5 AU NM_001101372 exon4 c.13618+129G>A 0.121605 0.2748 Uncertain 19_51831773_-->G 19 51831773 51831773 - G indel 463.73 0/1 99 31 16 15 0.48 intronic rs201743000 IGLON5 AU NM_001101372 exon8 c.16823-151insG 0.0251597 0.0744 Uncertain 19_51835892_-->G 19 51835892 51835892 - G indel 7125.73 1/1 99 172 0 172 1.0 exonic rs11402251 VSIG10L AU frameshift insertion NM_001163922 exon10 c.2576dupC p.A859fs 1 1 0.999704 1 1 Pathogenic 19_51837332_A->G 19 51837332 51837332 A G snp 553.77 0/1 99 57 32 25 0.44 intronic rs10418551 VSIG10L AU NM_001163922 exon3 c.1580-112A>G 0.776757 0.6885 Uncertain 19_51841417_C->T 19 51841417 51841417 C T snp 1703.77 0/1 99 109 45 64 0.59 exonic rs34380065 VSIG10L AU nonsynonymous SNV NM_001163922 exon6 c.G1775A p.R592Q 0.569289 0.6151 0.559603 0.6513 0.6547 0.58 T 0.0 P -0.895 T 0.003 T 0.001 T Pathogenic 19_51843589_G->T 19 51843589 51843589 G T snp 1273.77 0/1 99 106 51 55 0.52 intronic rs6509528 VSIG10L AU NM_001163922 exon7 c.7689+36G>T 0.574081 0.62 0.7187 0.5962 Uncertain 19_51843808_C->T 19 51843808 51843808 C T snp 447.77 0/1 99 54 33 21 0.39 exonic rs7259266 VSIG10L AU nonsynonymous SNV NM_001163922 exon3 c.G1068A p.M356I 0.558506 0.62 0.550855 0.6936 0.6571 1 T 0.0 P -0.941 T 0.0 T 0.0 T Pathogenic 19_51844978_G->T 19 51844978 51844978 G T snp 1622.77 0/1 99 127 57 70 0.55 exonic rs8105710 VSIG10L AU synonymous SNV NM_001163922 exon2 c.C324A p.S108S 0.636581 0.619 0.610819 0.6673 0.6230 Uncertain 19_51845371_T->G 19 51845371 51845371 T G snp 260.77 0/1 99 26 14 12 0.46 exonic rs10414211 VSIG10L AU nonsynonymous SNV NM_001163922 exon1 c.A8C p.N3T 0.639976 0.621 0.615637 0.6698 0.6246 1 T 0.0 P -0.945 T 0.0 T 0.0 T Pathogenic 19_51853468_C->T 19 51853468 51853468 C T snp 298.78 1/1 24 8 0 8 1.0 intronic rs4802789 ETFB AR NM_001985 exon3 c.5118-114C>T 0.803115 0.6111 Uncertain 19_51874950_G->A 19 51874950 51874950 G A snp 1141.77 1/1 84 35 0 35 1.0 UTR3 rs3009 NKG7 AU 0.690296 0.7867 Uncertain 19_51883727_G->A 19 51883727 51883727 G A snp 1000.77 0/1 99 78 35 43 0.55 intronic rs2547318 LIM2 AR NM_030657 exon2 c.304-31G>A 0.767372 0.7123 0.793711 0.7312 0.6790 Uncertain 19_51890741_T->C 19 51890741 51890741 T C snp 35.77 0/1 64 6 4 2 0.33 intronic rs2547309 LIM2 AR NM_030657 exon4 c.7249+38T>C 0.357428 0.3304 0.278026 0.2312 0.3266 Uncertain 19_51892109_T->C 19 51892109 51892109 T C snp 33.77 0/1 62 6 4 2 0.33 UTR3 rs3826664 C19orf84 AU 0.355431 0.3304 Uncertain 19_51892218_G->A 19 51892218 51892218 G A snp 785.77 0/1 99 94 58 36 0.38 UTR3 rs3826665 C19orf84 AU 0.321685 0.3304 0.2148 0.3622 Uncertain 19_51892683_T->C 19 51892683 51892683 T C snp 637.77 0/1 99 68 39 29 0.43 exonic rs8104425 C19orf84 AU nonsynonymous SNV NM_001193623 exon2 c.A116G p.N39S 0.321885 0.3313 0.3144 0.4435 Pathogenic 19_51892812_T->C 19 51892812 51892812 T C snp 495.77 0/1 99 27 9 18 0.67 intronic rs3810094 C19orf84 AU NM_001193623 exon1 c.526+49T>C 0.33107 0.3343 0.3288 0.4667 Uncertain 19_51892850_A->G 19 51892850 51892850 A G snp 348.77 0/1 99 16 5 11 0.69 intronic rs3810095 C19orf84 AU NM_001193623 exon1 c.526+87A>G 0.307308 0.3333 Uncertain 19_51920613_C->T 19 51920613 51920613 C T snp 5530.77 1/1 99 195 0 195 1.0 exonic rs1010425 SIGLEC10 AU synonymous SNV NM_001171156 exon2 c.G144A p.Q48Q 0.834265 0.8641 0.842150 0.8702 0.8933 0.000 P Uncertain 19_51985006_G->T 19 51985006 51985006 G T snp 608.77 1/1 48 16 0 16 1.0 intronic rs145950476 CEACAM18 AU NM_001278392 exon3 c.3023+87G>T 0.00179712 0.0089 Uncertain 19_52031162_A->G 19 52031162 52031162 A G snp 1067.77 0/1 99 106 58 48 0.45 intronic rs897783 SIGLEC6 AU NM_001245 exon2 c.7747+80A>G 0.594848 0.4653 Uncertain 19_52031304_C->A 19 52031304 52031304 C A snp 102.77 0/1 99 11 7 4 0.36 intronic rs2290660 SIGLEC6 AU NM_001245 exon3 c.8078-109C>A 0.63099 0.4653 Uncertain 19_52031648_A->G 19 52031648 52031648 A G snp 471.77 0/1 99 48 27 21 0.44 intronic rs10419617 SIGLEC6 AU NM_001245 exon3 c.8172+141A>G 0.595248 0.4673 Uncertain 19_52032775_C->G 19 52032775 52032775 C G snp 77.77 0/1 69 5 2 3 0.6 intronic rs4146203 SIGLEC6 AU NM_001245 exon4 c.9642-202C>G 0.761581 0.5079 Uncertain 19_52032964_C->G 19 52032964 52032964 C G snp 1799.77 0/1 99 196 118 78 0.4 intronic rs3976745 SIGLEC6 AU NM_001245 exon4 c.9642-13C>G 0.671326 0.5605 0.664616 0.6718 0.5535 Uncertain 19_52033742_G->A 19 52033742 52033742 G A snp 1709.77 0/1 99 128 54 74 0.58 exonic;splicing rs2305772 SIGLEC6;SIGLEC6 UN nonsynonymous SNV NM_001177548 exon4 c.C736T p.P246S 0.580471 0.4643 0.593856 0.5952 0.4457 0.001 P -0.982 T 0.928 T 0.732 D Pathogenic 19_52034940_C->T 19 52034940 52034940 C T snp 304.77 0/1 99 26 13 13 0.5 UTR5 rs1551559 SIGLEC6 AU 0.57528 0.4573 0.591984 0.6303 0.5261 Uncertain 19_52076481_C->A 19 52076481 52076481 C A snp 194.77 0/1 99 32 22 10 0.31 UTR5 rs2305371 ZNF175 AU 0.386781 0.7599 Uncertain 19_52084836_C->T 19 52084836 52084836 C T snp 491.77 0/1 99 48 29 19 0.4 intronic rs1543922 ZNF175 AU NM_007147 exon3 c.8188+66C>T 0.139976 0.121 Uncertain 19_52085291_T->C 19 52085291 52085291 T C snp 650.77 1/1 48 21 0 21 1.0 intronic rs1543923 ZNF175 AU NM_007147 exon4 c.8553+156T>C 0.797724 0.999 Uncertain 19_52089982_C->G 19 52089982 52089982 C G snp 3095.77 0/1 99 250 125 125 0.5 exonic rs61736479 ZNF175 AU nonsynonymous SNV NM_007147 exon5 c.C398G p.S133C 0.147764 0.121 0.117733 0.0610 0.1369 0.16 T 0.000 P -0.910 T 0.025 T 0.01 T Pathogenic 19_52091792_G->T 19 52091792 52091792 G T snp 250.77 0/1 99 34 22 12 0.35 UTR3 rs79610814 ZNF175 AU 0.043131 0.12 Uncertain 19_52095980_G->T 19 52095980 52095980 G T snp 1144.77 0/1 99 105 51 54 0.51 ncRNA_exonic rs3794984 LINC01530 AU 0.201677 0.5764 0.1112 0.5660 0 D 0.0 P -0.881 T 0.984 D 0.919 D Uncertain 19_52096034_ATAAA->- 19 52096034 52096038 ATAAA - indel 3346.73 0/1 99 97 40 57 0.59 ncRNA_exonic rs3838908 LINC01530 AU 0.207468 0.5784 0.1130 0.5437 Uncertain 19_52096053_T->A 19 52096053 52096053 T A snp 1605.77 0/1 99 114 49 65 0.57 ncRNA_exonic rs3794983 LINC01530 AU 0.207268 0.5774 0.1141 0.5673 1 T 0.549 P Uncertain 19_52096270_C->G 19 52096270 52096270 C G snp 1193.77 0/1 99 103 56 47 0.46 ncRNA_exonic rs3794982 LINC01530 AU 0.21226 0.5794 0.1183 0.5721 Uncertain 19_52097461_A->C 19 52097461 52097461 A C snp 3531.77 0/1 99 249 124 125 0.5 ncRNA_exonic rs7252645 LINC01530 AU 0.265375 0.5228 0.1191 0.5248 0 D 0.0 P -0.912 T 0.96 D 0.353 D Uncertain 19_52097586_A->G 19 52097586 52097586 A G snp 3416.77 0/1 99 236 108 128 0.54 ncRNA_exonic rs7252767 LINC01530 AU 0.266374 0.5268 0.1460 0.5213 Uncertain 19_52097660_C->G 19 52097660 52097660 C G snp 1624.77 0/1 99 91 39 52 0.57 upstream rs62114984 LINC01530 AU 0.203674 0.5565 Uncertain 19_52101918_T->C 19 52101918 52101918 T C snp 1089.77 0/1 99 125 80 45 0.36 intergenic rs1868947 LINC01530 AU 0.727835 0.6825 Uncertain 19_52104489_C->G 19 52104489 52104489 C G snp 1893.77 1/1 99 67 0 67 1.0 intergenic rs8113451 LINC01530 AU 0.63778 0.7143 Uncertain 19_52104560_T->C 19 52104560 52104560 T C snp 2338.77 1/1 99 87 0 87 1.0 intergenic rs3752127 LINC01530 AU 0.914936 0.8274 Uncertain 19_52104713_G->C 19 52104713 52104713 G C snp 781.77 0/1 99 55 22 33 0.6 intergenic rs3752126 LINC01530 AU 0.872604 0.7123 Uncertain 19_52104746_G->C 19 52104746 52104746 G C snp 523.77 0/1 99 37 18 19 0.51 intergenic rs143546718 LINC01530 AU 0.122804 0.4276 Uncertain 19_52115645_G->C 19 52115645 52115645 G C snp 741.77 1/1 54 28 0 28 1.0 exonic rs3829655 SIGLEC5 AU nonsynonymous SNV NM_003830 exon9 c.C1495G p.P499A 0.435304 0.5794 0.397970 0.4405 0.5557 0.07 T 0.0 P -0.957 T 0.953 T 0.388 D Pathogenic 19_52130488_G->A 19 52130488 52130488 G A snp 1926.77 1/1 99 67 0 67 1.0 exonic rs17740650 SIGLEC5 AU synonymous SNV NM_003830 exon7 c.C1296T p.L432L 0.244808 0.6329 0.122328 0.1653 0.6384 Uncertain 19_52132103_TGTGCGTGTGTA->- 19 52132103 52132114 TGTGCGTGTGTA - indel 1073.74 1/1 27 9 0 9 1.0 intronic rs147684241 SIGLEC5 AU NM_003830 exon6 c.16807-187_16807-176delTGTGCGTGTGTA 0.139776 0.4821 Uncertain 19_52132325_A->T 19 52132325 52132325 A T snp 1053.77 1/1 39 46 2 44 0.96 exonic rs2305372 SIGLEC5 AU synonymous SNV NM_003830 exon4 c.T705A p.A235A 0.141773 0.4921 0.031139 0.0688 0.4752 Uncertain 19_52132392_A->G 19 52132392 52132392 A G snp 673.77 1/1 51 22 0 22 1.0 intronic rs78265344 SIGLEC5 AU NM_003830 exon6 c.16846+63A>G 0.141973 0.4931 0.031537 Uncertain 19_52132986_A->G 19 52132986 52132986 A G snp 1016.77 1/1 75 34 0 34 1.0 intronic rs2278832 SIGLEC5 AU NM_003830 exon7 c.17406+97A>G 0.411542 0.747 Uncertain 19_52133060_G->T 19 52133060 52133060 G T snp 2989.77 1/1 99 109 0 109 1.0 intronic rs2278833 SIGLEC5 AU NM_003830 exon8 c.17602-25G>T 0.420128 0.8452 0.262881 0.3682 0.8686 Uncertain 19_52196453_T->C 19 52196453 52196453 T C snp 2093.77 1/1 99 75 0 75 1.0 ncRNA_exonic rs12976445 SPACA6P-AS AU 0.565096 0.8919 0.427727 Uncertain 19_52196812_G->C 19 52196812 52196812 G C snp 893.77 0/1 99 86 45 41 0.48 ncRNA_exonic rs11881781 SPACA6P AU 0.10623 0.0625 Uncertain 19_52208277_-->C 19 52208277 52208277 - C indel 3016.73 1/1 99 72 0 72 1.0 ncRNA_intronic rs11382950 SPACA6P AU 1 1 Uncertain 19_52208492_G->C 19 52208492 52208492 G C snp 615.77 0/1 99 80 52 28 0.35 downstream rs34764077 SPACA6P AU 0.154353 0.0655 Uncertain 19_52220077_C->T 19 52220077 52220077 C T snp 96.28 1/1 9 3 0 3 1.0 intronic rs11084110 HAS1 AU NM_001523 exon3 c.3541-143C>T 0.691094 0.8849 Uncertain 19_52220351_G->A 19 52220351 52220351 G A snp 2893.77 0/1 99 241 104 137 0.57 exonic rs11084111 HAS1 AU synonymous SNV NM_001523 exon3 c.C798T p.D266D 0.178315 0.4435 0.103798 0.1307 0.4512 ID=CM058208;DIS=Macroglobulinaemia, Waldenstrom's, association with;TAG=DFP;PUB=15794859 DFP Uncertain 19_52223121_A->G 19 52223121 52223121 A G snp 1743.77 1/1 99 60 0 60 1.0 exonic rs7248778 HAS1 AU nonsynonymous SNV NM_001523 exon2 c.T40C p.C14R 0.812101 0.9881 0.750924 0.7920 0.9914 1 T 0.110 P -0.973 T 0.0 T 0.0 T Pathogenic 19_52223180_A->G 19 52223180 52223180 A G snp 1394.77 1/1 99 52 0 52 1.0 intronic rs56166910 HAS1 AU NM_001523 exon4 c.6472+29A>G 0.441693 0.7917 0.318760 0.4412 0.8212 Uncertain 19_52223251_T->G 19 52223251 52223251 T G snp 738.77 1/1 54 31 0 31 1.0 intronic rs59168688 HAS1 AU NM_001523 exon4 c.6472+100T>G 0.528954 0.6845 Uncertain 19_52223266_T->C 19 52223266 52223266 T C snp 690.77 1/1 51 27 0 27 1.0 intronic rs57088533 HAS1 AU NM_001523 exon4 c.6472+115T>C 0.812899 0.9891 Uncertain 19_52227137_-->ACACACACACAC 19 52227137 52227137 - ACACACACACAC indel 1987.73 1/1 39 21 1 20 0.95 intronic HAS1 AU NM_001523 exon5 c.10498-40insACACACACACAC Uncertain 19_52249211_T->G 19 52249211 52249211 T G snp 4066.77 1/1 99 145 0 145 1.0 exonic rs867228 FPR1 AU nonsynonymous SNV NM_002029 exon2 c.A1037C p.E346A 0.787141 0.6974 0.796940 0.8045 0.7067 0.11 T 0.0 P -0.913 T 0.646 T 0.309 P Pathogenic 19_52249672_A->C 19 52249672 52249672 A C snp 3039.77 0/1 99 188 77 111 0.59 exonic rs1042229 FPR1 AU nonsynonymous SNV NM_002029 exon2 c.T576G p.N192K 0.365615 0.2917 0.433185 0.3266 0.2885 1 T 0.0 P -0.939 T 0.0 T 0.002 T Pathogenic 19_52249702_G->T 19 52249702 52249702 G T snp 1675.77 0/1 99 169 101 68 0.4 exonic rs2070746 FPR1 AU synonymous SNV NM_002029 exon2 c.C546A p.P182P 0.351038 0.4484 0.289097 0.3285 0.4882 Uncertain 19_52249947_C->G 19 52249947 52249947 C G snp 2523.77 0/1 99 181 83 98 0.54 exonic rs2070745 FPR1 AU nonsynonymous SNV NM_002029 exon2 c.G301C p.V101L 0.39377 0.4861 0.343226 0.3891 0.4699 0.46 T 0.0 P -0.917 T 0.001 T 0.023 T ID=CM074876;DIS=Periodontitis, aggressive, association with;TAG=DP;PUB=17927965 DP Pathogenic 19_52250216_A->G 19 52250216 52250216 A G snp 1202.77 1/1 87 40 0 40 1.0 exonic rs5030878 FPR1 AU nonsynonymous SNV NM_002029 exon2 c.T32C p.I11T 0.834065 0.9613 0.772490 0.8053 0.9626 0.57 T 0.0 P -1.005 T 0.008 T 0.013 T ID=CM074875;DIS=Increased activity;TAG=FP;PUB=16953235 FP Pathogenic 19_52327784_C->T 19 52327784 52327784 C T snp 2858.77 0/1 99 250 134 116 0.46 exonic rs3752125 FPR3 AU synonymous SNV NM_002030 exon2 c.C783T p.G261G 0.226637 0.2649 0.247194 0.2770 0.2558 Uncertain 19_52376507_T->C 19 52376507 52376507 T C snp 1212.77 0/1 99 125 77 48 0.38 exonic rs2288868 ZNF577 AU nonsynonymous SNV NM_032679 exon7 c.A736G p.K246E 0.506589 0.3026 0.471090 0.4420 0.2907 1 T 0.0 P -0.987 T 0.0 T 0.0 T Pathogenic 19_52376952_T->A 19 52376952 52376952 T A snp 1546.77 0/1 99 114 49 65 0.57 exonic rs8107969 ZNF577 AU synonymous SNV NM_032679 exon7 c.A291T p.V97V 0.50639 0.3026 0.470701 0.4545 0.3013 Uncertain 19_52380681_T->A 19 52380681 52380681 T A snp 497.77 0/1 99 36 19 17 0.47 intronic rs3764540 ZNF577 AU NM_001135590 exon2 c.4846+51T>A 0.224641 0.2976 0.114639 0.1819 0.2899 Uncertain 19_52381552_A->G 19 52381552 52381552 A G snp 153.77 0/1 99 10 5 5 0.5 intronic rs12151288 ZNF577 AU NM_001135590 exon3 c.5857-89A>G 0.384984 0.3016 Uncertain 19_52381616_G->A 19 52381616 52381616 G A snp 278.77 0/1 99 39 26 13 0.33 intronic rs17778649 ZNF577 AU NM_001135590 exon3 c.5857-25G>A 0.224641 0.2976 0.114793 0.1828 0.2908 Uncertain 19_52381862_C->A 19 52381862 52381862 C A snp 500.77 0/1 99 44 19 25 0.57 intronic rs12150982 ZNF577 AU NM_001135590 exon3 c.5984+94C>A 0.378994 0.3006 Uncertain 19_52383510_C->T 19 52383510 52383510 C T snp 1867.77 0/1 99 168 87 81 0.48 intronic rs8110531 ZNF577 AU NM_001135590 exon4 c.7791-65C>T 0.308706 0.3046 0.190977 Uncertain 19_52383556_C->A 19 52383556 52383556 C A snp 2703.77 0/1 99 250 127 123 0.49 intronic rs8110546 ZNF577 AU NM_001135590 exon4 c.7791-19C>A 0.308706 0.3046 0.200446 0.2143 0.2982 Uncertain 19_52383569_A->C 19 52383569 52383569 A C snp 2903.77 0/1 99 250 129 121 0.48 intronic rs8110461 ZNF577 AU NM_001135590 exon4 c.7791-6A>C 0.308706 0.3046 0.200292 0.2143 0.2980 Uncertain 19_52403516_T->C 19 52403516 52403516 T C snp 3735.77 1/1 99 128 0 128 1.0 ncRNA_exonic rs1549931 ZNF649-AS1 AU 0.705671 0.7411 Uncertain 19_52496149_C->T 19 52496149 52496149 C T snp 1876.77 0/1 99 161 79 82 0.51 exonic rs16983353 ZNF615 AU nonsynonymous SNV NM_198480 exon6 c.G2180A p.R727K 0.477436 0.3948 0.379978 0.3671 0.3538 0.14 T 0.0 P -0.958 T 0.0 T 0.0 T Pathogenic 19_52497250_G->A 19 52497250 52497250 G A snp 2810.77 0/1 99 215 104 111 0.52 exonic rs1978717 ZNF615 AU nonsynonymous SNV NM_198480 exon6 c.C1079T p.T360I 0.476038 0.3929 0.379978 0.3666 0.3532 1 T 0.0 P -0.966 T 0.0 T 0.001 T Pathogenic 19_52497943_G->A 19 52497943 52497943 G A snp 830.77 0/1 99 106 70 36 0.34 exonic rs10500311 ZNF615 AU nonsynonymous SNV NM_198480 exon6 c.C386T p.T129M 0.476837 0.3929 0.380363 0.3675 0.3537 0.21 T 0.0 P -1.019 T 0.005 T 0.004 T Pathogenic 19_52504920_T->C 19 52504920 52504920 T C snp 182.9 1/1 15 5 0 5 1.0 intronic rs2903709 ZNF615 AU NM_198480 exon2 c.8933-145T>C 0.542931 0.5139 Uncertain 19_52505233_A->G 19 52505233 52505233 A G snp 1562.77 0/1 99 179 108 71 0.4 intronic rs2304144 ZNF615 AU NM_198480 exon2 c.9029+72A>G 0.150958 0.123 Uncertain 19_52505642_T->- 19 52505642 52505642 T - indel 5701.73 1/1 99 184 1 183 0.99 intronic rs10714016 ZNF615 AU NM_198480 exon3 c.9402+108delT 0.525559 0.5188 Uncertain 19_52506985_T->C 19 52506985 52506985 T C snp 1632.77 0/1 99 170 100 70 0.41 UTR5 rs1433089 ZNF615 AU 0.210463 0.3998 0.130555 0.2026 0.3971 Uncertain 19_52510420_G->A 19 52510420 52510420 G A snp 68.77 0/1 97 9 6 3 0.33 intronic rs73052066 ZNF615 AU NM_198480 exon5 c.14413-125G>A 0.157748 0.122 Uncertain 19_52511186_A->C 19 52511186 52511186 A C snp 156.77 0/1 99 21 15 6 0.29 intronic rs73052067 ZNF615 AU NM_198480 exon6 c.15261-207A>C 0.158347 0.12 Uncertain 19_52511217_G->A 19 52511217 52511217 G A snp 434.77 0/1 99 49 33 16 0.33 intronic rs8108118 ZNF615 AU NM_198480 exon6 c.15261-176G>A 0.221246 0.125 Uncertain 19_52519005_G->C 19 52519005 52519005 G C snp 41.77 0/1 70 4 2 2 0.5 UTR3 rs45530237 ZNF614 AU 0.161342 0.13 Uncertain 19_52519608_C->T 19 52519608 52519608 C T snp 2898.77 0/1 99 237 109 128 0.54 exonic rs8104890 ZNF614 AU nonsynonymous SNV NM_025040 exon5 c.G1243A p.V415I 0.403355 0.4038 0.304936 0.3349 0.3538 1 T 0.0 P -0.923 T 0.004 T 0.002 T Pathogenic 19_52520607_C->T 19 52520607 52520607 C T snp 1025.77 0/1 99 102 57 45 0.44 exonic rs61574510 ZNF614 AU nonsynonymous SNV NM_025040 exon5 c.G244A p.G82R 0.256789 0.3998 0.175381 0.2387 0.3939 0.43 T 0.0 P -0.917 T 0.006 T 0.001 T Pathogenic 19_52520714_G->T 19 52520714 52520714 G T snp 563.77 1/1 42 15 0 15 1.0 intronic rs12976476 ZNF614 AU NM_025040 exon1 c.1520+102G>T 1 1 Uncertain 19_52521110_G->C 19 52521110 52521110 G C snp 228.77 0/1 99 15 7 8 0.53 intronic rs73052087 ZNF614 AU NM_025040 exon2 c.2168-150G>C 0.160144 0.124 Uncertain 19_52521192_A->C 19 52521192 52521192 A C snp 1692.77 1/1 99 62 0 62 1.0 intronic rs61287503 ZNF614 AU NM_025040 exon2 c.2168-68A>C 0.4375 0.5238 Uncertain 19_52521296_G->A 19 52521296 52521296 G A snp 2017.77 1/1 99 71 0 71 1.0 exonic rs9636139 ZNF614 AU nonsynonymous SNV NM_025040 exon4 c.C203T p.T68I 0.542931 0.5238 0.418653 0.3922 0.5189 1 T 0.0 P -1.008 T 0.009 T 0.008 T Pathogenic 19_52521928_G->A 19 52521928 52521928 G A snp 50.74 1/1 6 2 0 2 1.0 intronic rs12610953 ZNF614 AU NM_025040 exon3 c.2655+181G>A 0.542931 0.5238 Uncertain 19_52529074_T->C 19 52529074 52529074 T C snp 1007.77 0/1 99 71 31 40 0.56 UTR5 rs6509613 ZNF614 AU 0.215655 0.1349 0.131406 Uncertain 19_52537576_T->G 19 52537576 52537576 T G snp 2835.77 1/1 99 107 1 106 0.99 exonic rs11666149 ZNF432 AU synonymous SNV NM_014650 exon5 c.A1356C p.T452T 0.560503 0.5228 0.442949 0.4195 0.5184 Uncertain 19_52538428_A->G 19 52538428 52538428 A G snp 1483.77 0/1 99 124 61 63 0.51 exonic rs11881700 ZNF432 AU synonymous SNV NM_014650 exon5 c.T504C p.G168G 0.195887 0.124 0.148108 0.1561 0.1244 Uncertain 19_52544610_G->A 19 52544610 52544610 G A snp 34.77 0/1 63 9 7 2 0.22 intronic rs11882305 ZNF432 AU NM_014650 exon3 c.7760-122G>A 0.174121 0.124 Uncertain 19_52570714_C->G 19 52570714 52570714 C G snp 2058.77 0/1 99 179 99 80 0.45 exonic rs16983412 ZNF841 AU nonsynonymous SNV NM_001136499 exon7 c.G421C p.V141L 0.196885 0.121 0.144766 0.2151 0.1843 0.26 T 0.0 P -0.914 T 0.0 T 0.0 T Pathogenic 19_52570783_A->G 19 52570783 52570783 A G snp 1225.77 0/1 99 113 63 50 0.44 exonic rs16983414 ZNF841 AU synonymous SNV NM_001136499 exon7 c.T352C p.L118L 0.197085 0.121 0.144766 0.2258 0.1806 Uncertain 19_52579509_T->C 19 52579509 52579509 T C snp 2025.77 0/1 99 185 95 90 0.49 intronic rs7359836 ZNF841 AU NM_001136499 exon2 c.11066+84T>C 0.197284 0.121 Uncertain 19_52587907_G->A 19 52587907 52587907 G A snp 547.77 0/1 99 79 54 25 0.32 intronic rs11084141 ZNF841 AU NM_001136499 exon4 c.19680-132G>A 0.213858 0.3919 Uncertain 19_52587917_A->G 19 52587917 52587917 A G snp 622.77 0/1 99 87 59 28 0.32 intronic rs11084142 ZNF841 AU NM_001136499 exon4 c.19680-122A>G 0.213458 0.3919 Uncertain 19_52619065_T->C 19 52619065 52619065 T C snp 3163.77 0/1 99 214 87 127 0.59 exonic rs3764537 ZNF616 AU nonsynonymous SNV NM_178523 exon4 c.A1352G p.H451R 0.366414 0.2262 0.276488 0.2006 0.2244 0.45 T 0.0 P -0.943 T 0.004 T 0.005 T Pathogenic 19_52620334_C->T 19 52620334 52620334 C T snp 795.77 0/1 99 75 43 32 0.43 intronic rs45468391 ZNF616 AU NM_178523 exon1 c.2207+57C>T 0.355831 0.1845 Uncertain 19_52627349_C->T 19 52627349 52627349 C T snp 888.77 0/1 99 81 41 40 0.49 intronic rs8100114 ZNF616 AU NM_178523 exon2 c.9232+47C>T 0.358027 0.1835 0.274007 0.1925 0.1835 Uncertain 19_52659991_A->G 19 52659991 52659991 A G snp 2142.77 0/1 99 148 66 82 0.55 exonic rs1821278 ZNF836 AU synonymous SNV NM_001102657 exon5 c.T945C p.Y315Y 0.496605 0.5714 0.372538 0.3565 0.5903 Uncertain 19_52660279_C->T 19 52660279 52660279 C T snp 1569.77 0/1 99 134 75 59 0.44 exonic rs1366245 ZNF836 AU nonsynonymous SNV NM_001102657 exon5 c.G657A p.M219I 0.477436 0.5714 0.339033 0.3469 0.5859 0.2 T 0.0 P -1.002 T 0.0 T 0.0 T Pathogenic 19_52660783_A->G 19 52660783 52660783 A G snp 489.77 0/1 99 33 16 17 0.52 exonic rs17696575 ZNF836 AU synonymous SNV NM_001102657 exon5 c.T153C p.P51P 0.195487 0.1716 0.138305 0.2112 0.2151 Uncertain 19_52660826_G->A 19 52660826 52660826 G A snp 105.77 0/1 99 9 5 4 0.44 intronic rs61641512 ZNF836 AU NM_001102657 exon1 c.2669+33G>A 0.155751 0.1498 0.081545 0.1053 0.1645 Uncertain 19_52664019_A->G 19 52664019 52664019 A G snp 216.77 0/1 99 15 7 8 0.53 intronic rs3794976 ZNF836 AU NM_001102657 exon2 c.5720+175A>G 0.530751 0.5714 Uncertain 19_52693289_-->C 19 52693289 52693289 - C indel 1194.73 1/1 99 40 0 40 1.0 UTR5 rs67495004 PPP2R1A AD 0.414841 Uncertain 19_52704961_T->C 19 52704961 52704961 T C snp 3330.77 1/1 99 123 0 123 1.0 intronic rs10420138 PPP2R1A AD NM_014225 exon2 c.11847-235T>C 0.437101 0.3105 Uncertain 19_52724095_T->C 19 52724095 52724095 T C snp 1033.77 1/1 78 31 0 31 1.0 intronic rs4802905 PPP2R1A AD NM_014225 exon12 c.30882-136T>C 0.259984 0.3145 0.177836 ID=COSN165903;OCCURENCE=1(breast) Uncertain 19_52773078_T->C 19 52773078 52773078 T C snp 90.28 1/1 9 3 0 3 1.0 intronic rs2657928 ZNF766 AU NM_001010851 exon1 c.18+194T>C 0.422724 0.3304 Uncertain 19_52800396_C->T 19 52800396 52800396 C T snp 617.77 1/1 48 19 0 19 1.0 upstream rs117653975 ZNF480 AU 0.430911 0.4831 0.0047 0.0667 Uncertain 19_52800516_C->A 19 52800516 52800516 C A snp 2006.77 1/1 99 89 0 89 1.0 intronic rs67621412 ZNF480 AU 0.291733 0.4127 0.3188 0.4493 Uncertain 19_52803670_TG->- 19 52803670 52803671 TG - indel 2246.73 0/1 99 114 55 59 0.52 exonic rs3217319 ZNF480 AU frameshift deletion NM_001297624 exon2 c.5_6del p.L2fs 0.599042 0.6409 0.615895 0.6883 0.6339 Pathogenic 19_52852523_T->C 19 52852523 52852523 T C snp 292.77 0/1 99 27 15 12 0.44 intronic rs321953 ZNF610 AU NM_001161425 exon3 c.63+35T>C 0.713858 0.6161 0.743503 0.7677 0.5412 Uncertain 19_52857399_G->A 19 52857399 52857399 G A snp 156.77 0/1 99 8 3 5 0.63 intronic rs2251559 ZNF610 AU NM_001161425 exon5 c.5078-104G>A 0.536142 0.5754 Uncertain 19_52869022_G->T 19 52869022 52869022 G T snp 1705.77 1/1 99 55 0 55 1.0 exonic rs2241586 ZNF610 AU nonsynonymous SNV NM_001161427 exon5 c.G262T p.A88S 0.824481 0.6538 0.865831 0.8476 0.6067 1 T 0.0 P -0.961 T 0.0 T 0.0 T Pathogenic 19_52869278_G->C 19 52869278 52869278 G C snp 2254.77 1/1 99 84 0 84 1.0 exonic rs321937 ZNF610 AU nonsynonymous SNV NM_001161427 exon5 c.G518C p.R173P 0.811102 0.6419 0.857527 0.8439 0.5945 0.22 T 0.0 P -1.090 T 0.0 T 0.0 T Pathogenic 19_52869312_T->C 19 52869312 52869312 T C snp 1159.77 0/1 99 88 40 48 0.55 exonic rs162120 ZNF610 AU synonymous SNV NM_001161427 exon5 c.T552C p.T184T 0.786741 0.5268 0.858373 0.8302 0.4779 Uncertain 19_52869534_G->A 19 52869534 52869534 G A snp 2755.77 1/1 99 98 0 98 1.0 exonic rs162119 ZNF610 AU synonymous SNV NM_001161427 exon5 c.G774A p.S258S 0.802716 0.6151 0.856605 0.8381 0.5766 Uncertain 19_52870052_C->G 19 52870052 52870052 C G snp 3533.77 1/1 99 124 0 124 1.0 UTR3 rs1054612 ZNF610 AU 0.374401 0.2798 0.358124 0.3857 0.2432 Uncertain 19_52873005_A->G 19 52873005 52873005 A G snp 210.84 1/1 18 6 0 6 1.0 upstream rs707313 ZNF880 AU 0.862819 0.6756 Uncertain 19_52873023_A->G 19 52873023 52873023 A G snp 587.77 1/1 45 15 0 15 1.0 upstream rs707312 ZNF880 AU 0.800919 0.6548 Uncertain 19_52882733_T->C 19 52882733 52882733 T C snp 452.77 1/1 33 20 0 20 1.0 intronic rs10445583 ZNF880 AU NM_001145434 exon4 c.13883-4368T>C 0.377396 0.3423 0.4974 0.3409 0.24 T 0.0 P -0.917 T Uncertain 19_52882805_C->T 19 52882805 52882805 C T snp 498.77 1/1 36 21 0 21 1.0 intronic rs10445584 ZNF880 AU NM_001145434 exon4 c.13883-4296C>T 0.377396 0.3433 0.5080 0.3409 Uncertain 19_52882824_T->A 19 52882824 52882824 T A snp 318.74 0/1 6 14 1 13 0.93 intronic rs10445585 ZNF880 AU NM_001145434 exon4 c.13883-4277T>A 0.377396 0.3433 0.4430 0.3333 Uncertain 19_52887146_A->- 19 52887146 52887146 A - indel 2926.73 1/1 99 84 1 83 0.99 exonic rs34470614 ZNF880 AU frameshift deletion NM_001145434 exon4 c.313delA p.K105fs 0.357767 0.4718 0.3721 Pathogenic 19_52887246_-->CAA 19 52887246 52887246 - CAA indel 4655.73 1/1 99 90 0 90 1.0 exonic rs34678014 ZNF880 AU nonframeshift insertion NM_001145434 exon4 c.413_414insCAA p.I138delinsIN 0.344630 0.4366 0.3703 ID=COSM1000525;OCCURENCE=1(endometrium) Uncertain 19_52887427_A->C 19 52887427 52887427 A C snp 5962.77 1/1 99 223 1 222 1.0 exonic rs8104808 ZNF880 AU nonsynonymous SNV NM_001145434 exon4 c.A594C p.R198S 0.379393 0.3462 0.352168 0.4557 0.3848 0.0 P -0.942 T 0.03 T 0.001 T Pathogenic 19_52887437_A->C 19 52887437 52887437 A C snp 6128.77 1/1 99 230 1 229 1.0 exonic rs8104812 ZNF880 AU nonsynonymous SNV NM_001145434 exon4 c.A604C p.N202H 0.378794 0.3462 0.351730 0.4469 0.3741 0.0 P -0.949 T 0.0 T 0.0 T Pathogenic 19_52887904_T->C 19 52887904 52887904 T C snp 2821.77 1/1 99 95 0 95 1.0 exonic rs2042913 ZNF880 AU synonymous SNV NM_001145434 exon4 c.T1071C p.C357C 0.3889 0.3096 Uncertain 19_52888210_T->C 19 52888210 52888210 T C snp 2514.77 1/1 99 80 0 80 1.0 exonic rs56151179 ZNF880 AU synonymous SNV NM_001145434 exon4 c.T1377C p.T459T 0.382392 0.4327 0.3459 Uncertain 19_52888245_A->G 19 52888245 52888245 A G snp 2323.77 1/1 99 77 0 77 1.0 exonic rs55748277 ZNF880 AU nonsynonymous SNV NM_001145434 exon4 c.A1412G p.K471R 0.411542 0.3492 0.382173 0.4502 0.3794 0.000 P -0.937 T 0.991 D 0.917 D Pathogenic 19_52888620_T->G 19 52888620 52888620 T G snp 881.77 1/1 66 29 0 29 1.0 UTR3 rs3170100 ZNF880 AU 0.416733 0.3492 Uncertain 19_52893473_A->G 19 52893473 52893473 A G snp 382.74 0/1 6 14 1 13 0.93 ncRNA_intronic rs7253837 ZNF528-AS1 AU 0.442891 0.2897 Uncertain 19_52905067_A->C 19 52905067 52905067 A C snp 415.77 0/1 99 65 43 22 0.34 intronic rs324091 ZNF528 AU 0.605232 0.6726 Uncertain 19_52909303_C->T 19 52909303 52909303 C T snp 2193.77 0/1 99 196 98 98 0.5 intronic rs2290745 ZNF528 AU NM_032423 exon5 c.4020+17C>T 0.501997 0.4147 0.637783 0.6596 0.4073 Uncertain 19_52909458_T->G 19 52909458 52909458 T G snp 385.77 0/1 99 25 11 14 0.56 intronic rs2245620 ZNF528 AU NM_032423 exon5 c.4020+172T>G 0.546725 0.4256 Uncertain 19_52909989_A->G 19 52909989 52909989 A G snp 89.77 0/1 99 18 14 4 0.22 intronic rs11668956 ZNF528 AU NM_032423 exon6 c.4630+93A>G 0.480232 0.4137 0.6621 0.4047 Uncertain 19_52917590_G->A 19 52917590 52917590 G A snp 1419.77 0/1 99 95 43 52 0.55 intronic rs162124 ZNF528 AU NM_032423 exon7 c.13110-786G>A 0.564497 0.4097 0.5984 0.3731 Uncertain 19_52917626_A->G 19 52917626 52917626 A G snp 568.77 0/1 99 37 17 20 0.54 intronic rs162123 ZNF528 AU NM_032423 exon7 c.13110-750A>G 0.538938 0.4147 0.5974 0.3788 Uncertain 19_52920006_-->TG 19 52920006 52920006 - TG indel 2130.73 0/1 99 115 58 57 0.5 UTR3 rs10664588 ZNF528 AU 0.711462 0.6835 0.792379 0.7932 0.6777 Uncertain 19_52937100_G->T 19 52937100 52937100 G T snp 1277.77 0/1 99 101 48 53 0.52 intronic rs2560996 ZNF534 AU NM_001143939 exon2 c.2480-107G>T 0.363618 0.3661 0.3965 0.4631 Uncertain 19_52937339_G->A 19 52937339 52937339 G A snp 6465.77 1/1 99 233 1 232 1.0 exonic;splicing rs17780173 ZNF534;ZNF534 UN synonymous SNV NM_001143939 exon2 c.G147A p.E49E 0.249201 0.4772 0.118155 0.1846 0.4848 Uncertain 19_52937487_G->A 19 52937487 52937487 G A snp 684.77 0/1 99 51 25 26 0.51 intronic rs2608546 ZNF534 AU NM_001143939 exon2 c.2646+114G>A 0.31849 0.2827 Uncertain 19_52937530_C->T 19 52937530 52937530 C T snp 837.77 1/1 63 22 0 22 1.0 intronic rs2560997 ZNF534 AU NM_001143939 exon2 c.2646+157C>T 0.796725 0.6478 Uncertain 19_52938205_T->G 19 52938205 52938205 T G snp 252.8 1/1 21 7 0 7 1.0 intronic rs11084159 ZNF534 AU NM_001143939 exon3 c.3606-128T>G 0.821486 0.6587 Uncertain 19_52938209_A->G 19 52938209 52938209 A G snp 345.78 1/1 27 10 0 10 1.0 intronic rs11084160 ZNF534 AU NM_001143939 exon3 c.3606-124A>G 0.8748 0.6587 Uncertain 19_52938361_C->A 19 52938361 52938361 C A snp 4264.77 1/1 99 171 0 171 1.0 exonic rs11084161 ZNF534 AU nonsynonymous SNV NM_001143938 exon3 c.C170A p.T57N 0.820887 0.6587 0.928155 0.9125 0.6702 0.14 T 0.0 P -0.972 T 0.902 T 0.148 P Pathogenic 19_52938417_A->G 19 52938417 52938417 A G snp 4115.77 1/1 99 146 0 146 1.0 exonic rs11084162 ZNF534 AU nonsynonymous SNV NM_001143938 exon3 c.A226G p.I76V 0.829872 0.6587 0.936602 0.9150 0.6704 0.5 T 0.0 P -1.064 T 0.024 T 0.014 T Pathogenic 19_52938459_A->G 19 52938459 52938459 A G snp 2540.77 1/1 99 88 0 88 1.0 exonic rs11084163 ZNF534 AU nonsynonymous SNV NM_001143938 exon3 c.A268G p.T90A 0.830671 0.6587 0.936699 0.9153 0.6699 0.54 T 0.0 P -1.034 T 0.131 T 0.074 T Pathogenic 19_52940931_A->T 19 52940931 52940931 A T snp 129.03 1/1 12 4 0 4 1.0 intronic rs1428179 ZNF534 AU NM_001143939 exon4 c.6257-53A>T 0.828075 0.6587 Uncertain 19_52941171_T->C 19 52941171 52941171 T C snp 2402.77 1/1 99 80 1 79 0.99 exonic rs1428180 ZNF534 AU nonsynonymous SNV NM_001143938 exon4 c.T458C p.F153S 0.828075 0.6587 0.931456 0.9162 0.6714 0.25 T 0.0 P -0.977 T 0.0 T 0.001 T Pathogenic 19_52941540_G->A 19 52941540 52941540 G A snp 2917.77 1/1 99 102 0 102 1.0 exonic rs1366257 ZNF534 AU nonsynonymous SNV NM_001143938 exon4 c.G827A p.G276E 0.828075 0.6587 0.931456 0.9160 0.6697 0.05 T 1.000 P -1.024 T 0.382 T 0.035 T Pathogenic 19_52941618_A->C 19 52941618 52941618 A C snp 3256.77 1/1 99 107 0 107 1.0 exonic rs1366258 ZNF534 AU nonsynonymous SNV NM_001143938 exon4 c.A905C p.E302A 0.828075 0.6587 0.931165 0.9160 0.6710 0.02 T 0.0 P -1.011 T 0.828 T 0.593 P Pathogenic 19_52941847_A->T 19 52941847 52941847 A T snp 2719.77 1/1 99 93 0 93 1.0 exonic rs1366259 ZNF534 AU synonymous SNV NM_001143938 exon4 c.A1134T p.G378G 0.828075 0.6587 0.928603 0.9146 0.6791 Uncertain 19_52942159_A->G 19 52942159 52942159 A G snp 4078.77 1/1 99 155 1 154 0.99 exonic rs2608497 ZNF534 AU synonymous SNV NM_001143938 exon4 c.A1446G p.Q482Q 0.828075 0.6587 0.926413 0.9178 0.6870 Uncertain 19_52942445_C->T 19 52942445 52942445 C T snp 5293.77 1/1 99 184 0 184 1.0 exonic rs2608498 ZNF534 AU nonsynonymous SNV NM_001143938 exon4 c.C1732T p.H578Y 0.873602 0.6587 0.971091 0.9358 0.7486 1 T 0.000 P -1.002 T 0.0 T 0.0 T Pathogenic 19_52942495_G->A 19 52942495 52942495 G A snp 4713.77 1/1 99 159 3 156 0.98 exonic rs2561001 ZNF534 AU synonymous SNV NM_001143938 exon4 c.G1782A p.A594A 0.828075 0.6587 0.9402 0.7143 Uncertain 19_52942734_C->T 19 52942734 52942734 C T snp 2105.77 1/1 99 62 0 62 1.0 intronic rs2446079 ZNF534 AU NM_001143939 exon4 c.7972+35C>T 0.748003 0.6548 0.8851 0.6777 Uncertain 19_52954507_T->C 19 52954507 52954507 T C snp 1619.77 1/1 99 63 0 63 1.0 exonic rs324104 ZNF534 AU synonymous SNV NM_001291369 exon3 c.T210C p.A70A 0.842652 0.6567 0.952087 0.9065 0.6880 Uncertain 19_53075519_G->T 19 53075519 53075519 G T snp 493.77 0/1 99 37 16 21 0.57 exonic rs8104138 ZNF701 AU nonsynonymous SNV NM_001172655 exon2 c.G25T p.D9Y 0.348642 0.2222 0.5311 0.2460 0.12 T 0.0 P -0.998 T 0.736 T 0.094 P Pathogenic 19_53075734_C->T 19 53075734 53075734 C T snp 414.77 0/1 99 21 7 14 0.67 intronic rs3826655 ZNF701 AU NM_001172655 exon2 c.127+113C>T 0.466454 0.3026 Uncertain 19_53077411_T->C 19 53077411 53077411 T C snp 1116.77 0/1 99 89 41 48 0.54 exonic rs162832 ZNF701 AU nonsynonymous SNV NM_018260 exon2 c.T11C p.L4P 0.714457 0.4276 0.788373 0.7184 0.4324 0.000 P -1.079 T 0.0 T 0.0 T Pathogenic 19_53085416_G->A 19 53085416 53085416 G A snp 1786.77 0/1 99 116 48 68 0.59 intronic rs12975229 ZNF701 AU NM_018260 exon4 c.8054-38G>A 0.283347 0.3373 0.283594 0.3501 0.3448 Uncertain 19_53085659_C->T 19 53085659 53085659 C T snp 2504.77 0/1 99 194 94 100 0.52 exonic rs366793 ZNF701 AU nonsynonymous SNV NM_018260 exon4 c.C347T p.T116I 0.644169 0.497 0.706751 0.6967 0.4959 0.34 T 0.0 P -1.079 T 0.0 T 0.0 T Pathogenic 19_53085813_T->C 19 53085813 53085813 T C snp 1629.77 0/1 99 153 86 67 0.44 exonic rs3745101 ZNF701 AU synonymous SNV NM_018260 exon4 c.T501C p.A167A 0.289736 0.3681 0.290174 0.3538 0.3751 Uncertain 19_53086124_C->A 19 53086124 53086124 C A snp 1433.77 0/1 99 136 74 62 0.46 exonic rs373554 ZNF701 AU nonsynonymous SNV NM_018260 exon4 c.C812A p.T271K 0.64397 0.497 0.706981 0.6970 0.4973 1 T 0.0 P -0.993 T 0.0 T 0.0 T Pathogenic 19_53086598_G->A 19 53086598 53086598 G A snp 1198.77 0/1 99 111 64 47 0.42 exonic rs3745102 ZNF701 AU nonsynonymous SNV NM_018260 exon4 c.G1286A p.R429H 0.282947 0.3373 0.3440 0.3321 0.36 T 0.0 P -0.913 T 0.002 T 0.003 T Pathogenic 19_53117017_T->G 19 53117017 53117017 T G snp 1137.77 1/1 84 35 0 35 1.0 exonic rs7248435 ZNF83 AU synonymous SNV NM_001277951 exon3 c.A801C p.G267G 0.273163 0.497 0.099262 1.000 P Uncertain 19_53117531_C->T 19 53117531 53117531 C T snp 2332.77 1/1 99 81 0 81 1.0 exonic rs1056185 ZNF83 AU nonsynonymous SNV NM_001277951 exon3 c.G287A p.S96N 0.712859 0.7063 0.668076 0.6396 0.7131 1 T 0.0 P -0.980 T 0.0 T 0.0 T Pathogenic 19_53117809_C->A 19 53117809 53117809 C A snp 3204.83 1/1 99 111 1 110 0.99 exonic rs10406458 ZNF83 AU synonymous SNV NM_001277951 exon3 c.G9T p.G3G 0.71266 0.7044 0.669153 0.6460 0.7112 Uncertain 19_53268810_G->A 19 53268810 53268810 G A snp 1161.77 0/1 99 80 37 43 0.54 UTR3 rs12460920 ZNF600 AU 0.0634984 0.1925 0.022759 0.0524 0.2176 Uncertain 19_53269614_G->A 19 53269614 53269614 G A snp 3071.77 0/1 99 247 123 124 0.5 exonic rs58262989 ZNF600 AU synonymous SNV NM_198457 exon3 c.C1395T p.T465T 0.063099 0.1925 0.022989 0.0520 0.2173 Uncertain 19_53270384_A->G 19 53270384 53270384 A G snp 2364.77 0/1 99 159 69 90 0.57 exonic rs1820128 ZNF600 AU nonsynonymous SNV NM_198457 exon3 c.T625C p.C209R 0.81889 0.6399 0.896016 0.8170 0.6063 0.28 T 0.0 P -1.057 T 0.0 T 0.0 T ID=CM067728;DIS=Lung cancer, susceptibility to, association with;TAG=DP;PUB=16741161 DP Pathogenic 19_53343939_T->G 19 53343939 53343939 T G snp 1165.77 0/1 99 102 54 48 0.47 UTR3 rs9749464 ZNF468 AU 0.229433 0.0605 0.233046 0.1941 0.0516 Uncertain 19_53344118_C->G 19 53344118 53344118 C G snp 1234.77 0/1 99 106 64 42 0.4 exonic rs10419826 ZNF468 AU nonsynonymous SNV NM_001008801 exon4 c.G1429C p.G477R 0.579872 0.3254 0.525858 0.5015 0.3044 0.37 T 0.0 P -1.084 T 0.0 T 0.0 T Pathogenic 19_53344701_A->G 19 53344701 53344701 A G snp 2740.77 0/1 99 227 111 116 0.51 exonic rs10420793 ZNF468 AU synonymous SNV NM_001008801 exon4 c.T846C p.H282H 0.360024 0.1101 0.371444 0.3118 0.1002 Uncertain 19_53344919_T->G 19 53344919 53344919 T G snp 2156.77 0/1 99 185 96 89 0.48 exonic rs58239286 ZNF468 AU nonsynonymous SNV NM_001008801 exon4 c.A628C p.M210L 0.222444 0.0605 0.226588 0.1922 0.0516 0.02 T 0.0 P -0.923 T 0.001 T 0.001 T Pathogenic 19_53345447_C->T 19 53345447 53345447 C T snp 1952.77 0/1 99 140 68 72 0.51 intronic rs60596790 ZNF468 AU NM_001277120 exon1 c.124+43C>T 0.317891 0.1101 0.312402 0.2882 0.1007 Uncertain 19_53345481_A->- 19 53345481 53345481 A - indel 928.73 0/1 99 71 25 46 0.65 intronic rs142157651 ZNF468 AU NM_001277120 exon1 c.124+77delA 0.222644 0.0605 Uncertain 19_53345515_G->A 19 53345515 53345515 G A snp 627.77 0/1 99 33 12 21 0.64 intronic rs62117470 ZNF468 AU NM_001277120 exon1 c.124+111G>A 0.223842 0.0635 Uncertain 19_53351266_C->T 19 53351266 53351266 C T snp 742.77 0/1 99 74 41 33 0.45 intronic rs7256165 ZNF468 AU NM_001277120 exon3 c.7059-1073C>T 0.575479 0.3224 Uncertain 19_53452944_T->G 19 53452944 53452944 T G snp 372.77 0/1 99 24 12 12 0.5 UTR3 rs1808106 ZNF816 AU 0.446885 0.3155 Uncertain 19_53452965_C->T 19 53452965 53452965 C T snp 534.77 0/1 99 42 25 17 0.4 UTR3 rs3745177 ZNF816 AU 0.351837 0.3512 Uncertain 19_53453777_C->T 19 53453777 53453777 C T snp 1931.77 0/1 99 150 76 74 0.49 exonic rs8110062 ZNF816 AU synonymous SNV NM_001031665 exon5 c.G1251A p.K417K 0.507381 0.3936 0.3417 Uncertain 19_53454387_G->C 19 53454387 53454387 G C snp 2117.77 0/1 99 146 66 80 0.55 exonic rs57088011 ZNF816 AU nonsynonymous SNV NM_001031665 exon5 c.C641G p.S214C 0.0497204 0.0585 0.025296 0.0337 0.0536 0 D 1.000 N -1.163 T 0.998 D 0.981 D Pathogenic 19_53454475_-->ACT 19 53454475 53454475 - ACT indel 6029.73 0/1 99 184 79 105 0.57 exonic rs33949217 ZNF816 AU nonframeshift insertion NM_001031665 exon5 c.552_553insAGT p.G185delinsSG 0.465056 0.252 0.545055 0.4381 0.3951 Uncertain 19_53454789_A->T 19 53454789 53454789 A T snp 2436.77 0/1 99 214 114 100 0.47 exonic rs12459008 ZNF816 AU nonsynonymous SNV NM_001031665 exon5 c.T239A p.I80N 0.46266 0.3125 0.465324 0.3862 0.3420 0.68 T 0.0 P -1.019 T 0.0 T 0.0 T ID=CM140040;DIS=Psoriasis, reduced risk;TAG=DP;PUB=24212883 DP Pathogenic 19_53553497_G->A 19 53553497 53553497 G A snp 1767.77 1/1 99 179 66 113 0.63 exonic rs2195311 ERVV-2 AU synonymous SNV NM_001191055 exon2 c.G993A p.A331A 0.634784 0.6319 0.7095 0.6795 Uncertain 19_53589677_C->T 19 53589677 53589677 C T snp 4689.77 1/1 99 168 0 168 1.0 intronic rs329718 ZNF160 AU NM_033288 exon4 c.18245+103C>T 0.84405 0.751 Uncertain 19_53589798_T->C 19 53589798 53589798 T C snp 504.77 1/1 39 14 0 14 1.0 intronic rs329717 ZNF160 AU NM_033288 exon4 c.18245+224T>C 0.8748 0.751 Uncertain 19_53611473_C->T 19 53611473 53611473 C T snp 176.9 1/1 15 5 0 5 1.0 UTR3 rs1045764 ZNF415 AU 0.543331 0.6121 Uncertain 19_53612311_T->C 19 53612311 53612311 T C snp 3693.77 1/1 99 124 1 123 0.99 exonic rs4803051 ZNF415 AU synonymous SNV NM_001136038 exon4 c.A987G p.T329T 0.477436 0.6151 0.417346 0.5042 0.5935 Uncertain 19_53612745_T->C 19 53612745 53612745 T C snp 5909.77 1/1 99 198 1 197 0.99 exonic rs1133327 ZNF415 AU nonsynonymous SNV NM_001136038 exon4 c.A553G p.I185V 0.544928 0.6131 0.493772 0.5247 0.5931 0.27 T 0.0 P -1.062 T 0.007 T 0.004 T Pathogenic 19_53612757_T->G 19 53612757 53612757 T G snp 6186.77 1/1 99 200 0 200 1.0 exonic rs1054485 ZNF415 AU nonsynonymous SNV NM_001136038 exon4 c.A541C p.I181L 0.544928 0.6131 0.493772 0.5247 0.5931 0.07 T 0.0 P -0.972 T 0.929 T 0.729 D Pathogenic 19_53618698_C->T 19 53618698 53618698 C T snp 59.74 1/1 6 3 0 3 1.0 intronic rs12609961 ZNF415 AU NM_001136038 exon2 c.7936-867C>T 0.451078 0.625 Uncertain 19_53625645_C->T 19 53625645 53625645 C T snp 1070.77 1/1 78 34 0 34 1.0 intronic rs34974523 ZNF415 AU NM_001136038 exon3 c.14027-11C>T 0.175919 0.2391 0.1843 0.2291 Uncertain 19_53644318_C->T 19 53644318 53644318 C T snp 2052.77 0/1 99 201 114 87 0.43 exonic rs139863350 ZNF347 AU nonsynonymous SNV NM_001172674 exon5 c.G1766A p.R589Q 0.00299521 0.0149 0.0009 0.0116 1 T 1 N -0.995 T 0.702 T 0.034 P Pathogenic 19_53645291_T->C 19 53645291 53645291 T C snp 6089.77 1/1 99 225 0 225 1.0 exonic rs2195310 ZNF347 AU nonsynonymous SNV NM_001172674 exon5 c.A793G p.N265D 0.631589 0.75 0.598877 0.6997 0.7609 0.25 T 0.0 P -1.033 T 0.144 T 0.043 T Pathogenic 19_53651845_-->TC 19 53651845 53651845 - TC indel 2529.73 1/1 99 49 0 49 1.0 intronic rs10694633 ZNF347 AU NM_001172675 exon2 c.8373-88insTC 0.835663 0.753 Uncertain 19_53652813_C->A 19 53652813 53652813 C A snp 343.78 1/1 27 9 0 9 1.0 intronic rs4801957 ZNF347 AU NM_001172675 exon3 c.9060+193C>A 0.632188 0.75 Uncertain 19_53667637_C->T 19 53667637 53667637 C T snp 556.77 0/1 99 34 14 20 0.59 UTR3 rs4803054 ZNF665 AU 0.517772 0.6448 Uncertain 19_53667804_C->T 19 53667804 53667804 C T snp 2507.77 0/1 99 199 96 103 0.52 exonic rs4801958 ZNF665 AU nonsynonymous SNV NM_024733 exon4 c.G1939A p.V647I 0.517372 0.6438 0.481843 0.6170 0.6609 1 T 0.0 P -0.969 T 0.0 T 0.001 T Pathogenic 19_53667913_A->G 19 53667913 53667913 A G snp 1889.77 0/1 99 156 77 79 0.51 exonic rs12459469 ZNF665 AU synonymous SNV NM_024733 exon4 c.T1830C p.N610N 0.517572 0.6448 0.482470 0.6162 0.6622 Uncertain 19_53667940_A->G 19 53667940 53667940 A G snp 2073.77 0/1 99 163 79 84 0.52 exonic rs12459471 ZNF665 AU synonymous SNV NM_024733 exon4 c.T1803C p.N601N 0.517572 0.6448 0.482239 0.6159 0.6619 Uncertain 19_53668549_T->G 19 53668549 53668549 T G snp 1313.77 0/1 99 128 74 54 0.42 exonic rs10409924 ZNF665 AU synonymous SNV NM_024733 exon4 c.A1194C p.G398G 0.215855 0.0972 0.222923 0.1604 0.0836 Uncertain 19_53669273_T->C 19 53669273 53669273 T C snp 6009.77 1/1 99 214 0 214 1.0 exonic rs4801959 ZNF665 AU nonsynonymous SNV NM_024733 exon4 c.A470G p.H157R 0.934704 0.8829 0.951881 0.9618 0.9076 0.13 T 0.0 P -1.038 T 0.0 T 0.0 T Pathogenic 19_53669492_A->G 19 53669492 53669492 A G snp 2382.77 0/1 99 196 99 97 0.49 exonic rs12460170 ZNF665 AU nonsynonymous SNV NM_024733 exon4 c.T251C p.V84A 0.517772 0.6448 0.485072 0.6175 0.6632 0.71 T 0.0 P -1.012 T 0.0 T 0.0 T Pathogenic 19_53669653_C->T 19 53669653 53669653 C T snp 207.77 0/1 99 20 12 8 0.4 intronic rs12460233 ZNF665 AU NM_024733 exon1 c.1895+53C>T 0.517372 0.6448 Uncertain 19_53678924_C->A 19 53678924 53678924 C A snp 1793.77 1/1 99 64 0 64 1.0 intronic rs4289099 ZNF665 AU NM_024733 exon2 c.11119+100C>A 0.832069 0.9038 Uncertain 19_53706984_G->A 19 53706984 53706984 G A snp 5856.77 1/1 99 210 0 210 1.0 intergenic rs12610332 ZNF665 AU 0.453874 0.7292 Uncertain 19_53707095_C->A 19 53707095 53707095 C A snp 2353.77 0/1 99 219 116 103 0.47 intergenic ZNF665 AU Uncertain 19_53707097_T->C 19 53707097 53707097 T C snp 5907.77 1/1 99 217 2 215 0.99 intergenic rs11084225 ZNF665 AU 0.453474 0.7302 Uncertain 19_53707289_C->T 19 53707289 53707289 C T snp 3601.77 1/1 99 116 0 116 1.0 intergenic rs7249771 ZNF665 AU 0.605232 0.7817 Uncertain 19_53716190_A->G 19 53716190 53716190 A G snp 3233.06 1/1 99 108 0 108 1.0 upstream rs10775558 ZNF818P AU 0.465855 0.7312 Uncertain 19_53716278_A->G 19 53716278 53716278 A G snp 4017.77 1/1 99 142 0 142 1.0 ncRNA_exonic rs10853858 ZNF818P AU 0.440695 0.7312 Uncertain 19_53716460_A->G 19 53716460 53716460 A G snp 2908.77 1/1 99 88 0 88 1.0 ncRNA_exonic rs10853859 ZNF818P AU 0.446486 0.7312 Uncertain 19_53726975_C->T 19 53726975 53726975 C T snp 56.74 1/1 6 2 0 2 1.0 intergenic rs10425196 ZNF818P AU 0.511781 0.744 Uncertain 19_53727097_G->A 19 53727097 53727097 G A snp 831.77 1/1 60 28 0 28 1.0 intergenic rs36114232 ZNF818P AU 0.511382 0.744 0.5092 0.7540 0 D -0.960 T Uncertain 19_53727100_-->TA 19 53727100 53727100 - TA indel 1487.73 1/1 90 30 0 30 1.0 intergenic rs35443981 ZNF818P AU 0.510783 0.744 0.5118 0.7606 Uncertain 19_53727145_-->GTTTT 19 53727145 53727145 - GTTTT indel 2642.73 1/1 99 40 0 40 1.0 intergenic rs112228801 ZNF818P AU 0.262181 0.3899 0.1648 0.4293 Uncertain 19_53727282_A->G 19 53727282 53727282 A G snp 1866.77 1/1 99 65 0 65 1.0 intergenic rs11084227 ZNF818P AU 0.425719 0.7431 Uncertain 19_53727392_T->C 19 53727392 53727392 T C snp 2777.77 1/1 99 91 0 91 1.0 intergenic rs10401578 ZNF818P AU 0.511781 0.746 Uncertain 19_53727573_A->G 19 53727573 53727573 A G snp 5622.77 1/1 99 209 0 209 1.0 intergenic rs12985503 ZNF818P AU 0.513179 0.745 Uncertain 19_53727591_T->C 19 53727591 53727591 T C snp 4818.77 1/1 99 167 0 167 1.0 intergenic rs10401984 ZNF818P AU 0.752796 0.8006 Uncertain 19_53727593_A->G 19 53727593 53727593 A G snp 4764.77 1/1 99 168 0 168 1.0 intergenic rs11673594 ZNF818P AU 0.51278 0.745 Uncertain 19_53727644_T->C 19 53727644 53727644 T C snp 3547.77 1/1 99 125 0 125 1.0 intergenic rs12972588 ZNF818P AU 0.511581 0.746 Uncertain 19_53728096_A->G 19 53728096 53728096 A G snp 1337.77 1/1 96 49 0 49 1.0 intergenic rs7248561 ZNF818P AU 0.752796 0.8105 Uncertain 19_53728105_G->C 19 53728105 53728105 G C snp 1623.77 1/1 99 58 0 58 1.0 intergenic rs7248883 ZNF818P AU 0.744609 0.8085 Uncertain 19_53728160_C->T 19 53728160 53728160 C T snp 2617.77 1/1 99 100 0 100 1.0 intergenic rs7248781 ZNF818P AU 0.755391 0.8065 Uncertain 19_53728218_G->C 19 53728218 53728218 G C snp 2354.77 1/1 99 92 0 92 1.0 intergenic rs11666631 ZNF818P AU 0.44349 0.751 Uncertain 19_53728280_A->G 19 53728280 53728280 A G snp 1251.77 1/1 90 37 0 37 1.0 intergenic rs7248812 ZNF818P AU 0.756589 0.8075 Uncertain 19_53740822_T->C 19 53740822 53740822 T C snp 1833.77 1/1 99 56 0 56 1.0 exonic rs8113436 ZNF677 AU synonymous SNV NM_182609 exon5 c.A1158G p.E386E 0.464856 0.752 0.359603 0.4589 0.7680 Uncertain 19_53741068_C->T 19 53741068 53741068 C T snp 5290.77 1/1 99 186 0 186 1.0 exonic rs12984188 ZNF677 AU synonymous SNV NM_182609 exon5 c.G912A p.S304S 0.464856 0.752 0.359911 0.4592 0.7679 Uncertain 19_53741188_C->T 19 53741188 53741188 C T snp 3906.77 1/1 99 134 0 134 1.0 exonic rs12984473 ZNF677 AU synonymous SNV NM_182609 exon5 c.G792A p.K264K 0.464856 0.752 0.359680 0.4589 0.7676 Uncertain 19_53746800_C->T 19 53746800 53746800 C T snp 56.74 1/1 6 2 0 2 1.0 intronic rs3097251 ZNF677 AU NM_182609 exon2 c.6772-196C>T 0.773762 0.8046 Uncertain 19_53754736_T->C 19 53754736 53754736 T C snp 1756.77 1/1 99 64 0 64 1.0 intronic rs2965240 ZNF677 AU NM_182609 exon3 c.14564-52T>C 0.513978 0.752 0.418309 Uncertain 19_53760758_T->G 19 53760758 53760758 T G snp 1641.77 0/1 99 161 85 76 0.47 upstream rs17305059 VN1R2 AU 0.139976 0.2788 Uncertain 19_53760825_C->T 19 53760825 53760825 C T snp 1472.77 0/1 99 126 62 64 0.51 upstream rs2914370 VN1R2 AU 0.557508 0.4593 Uncertain 19_53761740_T->C 19 53761740 53761740 T C snp 30.77 0/1 59 7 3 4 0.57 exonic rs2965249 VN1R2 AU nonsynonymous SNV NM_173856 exon1 c.T112C p.C38R 0.314497 0.3671 0.2949 0.3523 0 D 0.000 P -0.896 T 0.676 T 0.384 P Pathogenic 19_53762537_C->T 19 53762537 53762537 C T snp 2660.77 0/1 99 220 109 111 0.5 exonic rs12609049 VN1R2 AU synonymous SNV NM_173856 exon1 c.C909T p.L303L 0.140974 0.2788 0.066662 0.1298 0.2477 Uncertain 19_53770261_T->C 19 53770261 53770261 T C snp 266.77 0/1 99 73 41 32 0.44 exonic rs12977715 VN1R4 AU nonsynonymous SNV NM_173857 exon1 c.A658G p.N220D 0.327476 0.4167 0.2172 0.3089 0.16 T 0.0 P -0.938 T Pathogenic 19_53770694_G->A 19 53770694 53770694 G A snp 49.77 0/1 78 186 163 23 0.12 exonic rs758134532 VN1R4 AU synonymous SNV NM_173857 exon1 c.C225T p.L75L 0.0289 0.0488 Uncertain 19_53784611_G->T 19 53784611 53784611 G T snp 369.77 1/1 30 10 0 10 1.0 upstream rs150209424 FAM90A27P AU 0.0738818 0.1964 Uncertain 19_53784647_G->A 19 53784647 53784647 G A snp 968.77 1/1 72 29 0 29 1.0 upstream rs11084232 FAM90A27P AU 0.210463 0.3026 Uncertain 19_53784704_G->A 19 53784704 53784704 G A snp 2633.77 1/1 99 99 0 99 1.0 upstream rs55943466 FAM90A27P AU 0.327276 0.4435 Uncertain 19_53784709_C->T 19 53784709 53784709 C T snp 2934.77 1/1 99 109 1 108 0.99 upstream rs57846138 FAM90A27P AU 0.32508 0.4415 Uncertain 19_53784788_G->A 19 53784788 53784788 G A snp 4775.77 1/1 99 179 0 179 1.0 upstream rs28669322 FAM90A27P AU 0.415335 0.4524 0.3417 0.4646 Uncertain 19_53784899_C->T 19 53784899 53784899 C T snp 1608.77 1/1 99 51 0 51 1.0 upstream rs75521956 FAM90A27P AU 0.0756789 0.2024 0.0708 0.1634 0 D 1.000 N -1.046 T Uncertain 19_53784977_T->C 19 53784977 53784977 T C snp 99.28 1/1 9 3 0 3 1.0 upstream rs8112980 FAM90A27P AU 0.167931 0.2014 0.1039 0.1515 Uncertain 19_53786014_G->C 19 53786014 53786014 G C snp 92.77 0/1 99 29 24 5 0.17 ncRNA_intronic FAM90A27P AU Uncertain 19_53786015_T->A 19 53786015 53786015 T A snp 90.77 0/1 99 29 24 5 0.17 ncRNA_intronic FAM90A27P AU Uncertain 19_53786016_T->A 19 53786016 53786016 T A snp 82.77 0/1 99 30 25 5 0.17 ncRNA_intronic FAM90A27P AU Uncertain 19_53786022_A->G 19 53786022 53786022 A G snp 481.77 0/1 99 41 25 16 0.39 ncRNA_intronic rs369336781 FAM90A27P AU 0.0004 0 Uncertain 19_53786029_G->A 19 53786029 53786029 G A snp 682.77 0/1 99 51 30 21 0.41 ncRNA_intronic rs371458120 FAM90A27P AU Uncertain 19_53786255_G->T 19 53786255 53786255 G T snp 3006.77 1/1 99 103 0 103 1.0 ncRNA_intronic rs8102543 FAM90A27P AU 0.469848 0.4435 Uncertain 19_53786258_A->T 19 53786258 53786258 A T snp 2812.77 1/1 99 95 0 95 1.0 ncRNA_intronic rs8102246 FAM90A27P AU 0.469848 0.4435 Uncertain 19_53786347_T->C 19 53786347 53786347 T C snp 334.78 1/1 27 9 0 9 1.0 ncRNA_intronic rs111656848 FAM90A27P AU 0.0826677 0.2054 Uncertain 19_53787375_C->T 19 53787375 53787375 C T snp 3987.77 1/1 99 150 3 147 0.98 ncRNA_exonic rs111531670 FAM90A27P AU 0.123203 0.2004 0.1224 0.1667 Uncertain 19_53787832_G->C 19 53787832 53787832 G C snp 763.77 1/1 69 50 0 50 1.0 downstream rs2865242 FAM90A27P AU 0.296925 0.3353 0.1995 0.2822 0.58 T 1.000 N -0.972 T Uncertain 19_53787841_A->G 19 53787841 53787841 A G snp 739.77 1/1 66 52 0 52 1.0 downstream rs2865243 FAM90A27P AU 0.468051 0.3522 0.3380 0.295 0.41 T 1.000 P -0.983 T Uncertain 19_53788046_T->C 19 53788046 53788046 T C snp 422.77 1/1 33 22 0 22 1.0 downstream rs34943875 FAM90A27P AU 0.434704 0.3363 0.2265 0.1818 1 T 1.000 N -1.015 T Uncertain 19_53793042_G->A 19 53793042 53793042 G A snp 6922.77 1/1 99 249 0 249 1.0 exonic rs8109165 BIRC8 AU nonsynonymous SNV NM_033341 exon1 c.C586T p.H196Y 0.5623 0.506 0.596109 0.5600 0.5030 0.01 T 0.0 P -0.949 T 0.027 T 0.01 T Pathogenic 19_53793574_A->G 19 53793574 53793574 A G snp 4259.77 1/1 99 149 0 149 1.0 exonic rs2865248 BIRC8 AU synonymous SNV NM_033341 exon1 c.T54C p.V18V 0.602436 0.5069 0.639935 0.5758 0.5067 Uncertain 19_53802337_A->C 19 53802337 53802337 A C snp 201.77 0/1 99 34 19 15 0.44 intergenic rs1965725 BIRC8 AU 0.498403 0.498 Uncertain 19_53802342_G->A 19 53802342 53802342 G A snp 228.77 0/1 99 35 20 15 0.43 intergenic rs1965724 BIRC8 AU 0.272564 0.3383 Uncertain 19_53802648_G->C 19 53802648 53802648 G C snp 44.77 0/1 73 89 65 24 0.27 intergenic rs202184756 BIRC8 AU Uncertain 19_53802652_A->G 19 53802652 53802652 A G snp 101.77 0/1 99 93 67 26 0.28 intergenic rs200237935 BIRC8 AU Uncertain 19_53818473_C->T 19 53818473 53818473 C T snp 473.77 0/1 99 70 46 24 0.34 intergenic rs7257010 BIRC8 AU 0.284145 0.3383 Uncertain 19_53818502_A->G 19 53818502 53818502 A G snp 712.77 0/1 99 87 52 35 0.4 intergenic rs2865265 BIRC8 AU 0.285942 0.3383 Uncertain 19_53818565_G->T 19 53818565 53818565 G T snp 950.77 0/1 99 108 63 45 0.42 intergenic rs56741265 BIRC8 AU 0.147764 0.1587 Uncertain 19_53819176_C->T 19 53819176 53819176 C T snp 220.77 0/1 99 20 11 9 0.45 intergenic rs11880867 BIRC8 AU 0.161542 0.1587 Uncertain 19_53819233_T->C 19 53819233 53819233 T C snp 31.77 0/1 60 9 7 2 0.22 intergenic rs11878380 BIRC8 AU 0.285743 0.3373 Uncertain 19_53849446_G->A 19 53849446 53849446 G A snp 99.77 0/1 99 15 10 5 0.33 intronic rs4803089 ZNF845 AU NM_138374 exon3 c.4325+561G>A 0.8123 0.6746 Uncertain 19_53849632_-->C 19 53849632 53849632 - C indel 1387.73 1/1 99 34 0 34 1.0 intronic rs11406858 ZNF845 AU NM_138374 exon3 c.4325+747insC 1 1 1 1 Uncertain 19_53849700_G->A 19 53849700 53849700 G A snp 34.77 0/1 63 7 5 2 0.29 intronic rs4803090 ZNF845 AU NM_138374 exon3 c.4325+815G>A 0.809505 0.6746 Uncertain 19_53854713_G->A 19 53854713 53854713 G A snp 3057.77 0/1 99 223 109 114 0.51 exonic rs182006841 ZNF845 AU nonsynonymous SNV NM_138374 exon4 c.G785A p.R262H 0.000798722 0.004 0.0003 0.0037 0.06 T 1 N -1.005 T 0.126 T 0.036 T Pathogenic 19_53856349_A->T 19 53856349 53856349 A T snp 1000.77 0/1 99 69 29 40 0.58 exonic rs55874600 ZNF845 AU nonsynonymous SNV NM_138374 exon4 c.A2421T p.E807D 0.203874 0.1052 0.310994 0.3233 0.0940 0.18 T 0.0 P -0.961 T 0.563 P 0.407 P Pathogenic 19_53875494_A->T 19 53875494 53875494 A T snp 1307.77 0/1 99 107 56 51 0.48 ncRNA_intronic rs7252803 ZNF525 AU 0.311901 0.4306 0.2495 0.4498 Uncertain 19_53875523_G->A 19 53875523 53875523 G A snp 1727.77 0/1 99 154 81 73 0.47 ncRNA_intronic rs7253268 ZNF525 AU 0.327676 0.4306 0.2580 0.4509 Uncertain 19_53875569_G->A 19 53875569 53875569 G A snp 2208.77 0/1 99 190 99 91 0.48 ncRNA_intronic rs7253278 ZNF525 AU 0.330272 0.4306 0.2576 0.4511 Uncertain 19_53879562_ACA->- 19 53879562 53879564 ACA - indel 1000.73 0/1 99 39 16 23 0.59 ncRNA_intronic rs372559511 ZNF525 AU 0.361222 0.4306 0.4038 0.4242 ID=COSM1000811;OCCURENCE=1(endometrium) Uncertain 19_53884412_G->A 19 53884412 53884412 G A snp 5102.77 1/1 99 182 0 182 1.0 ncRNA_exonic rs4438413 ZNF525 AU 0.553514 0.5952 0.6205 0.5888 0.62 T 0.001 P -0.986 T Uncertain 19_53885276_C->A 19 53885276 53885276 C A snp 1155.77 0/1 99 150 96 54 0.36 ncRNA_exonic rs60179423 ZNF525 AU 0.191893 0.1696 0.1584 0.2113 Uncertain 19_53885352_C->T 19 53885352 53885352 C T snp 557.77 0/1 99 49 28 21 0.43 ncRNA_exonic rs58896082 ZNF525 AU 0.190695 0.1706 Uncertain 19_53905130_A->- 19 53905130 53905130 A - indel 396.73 0/1 99 34 13 21 0.62 intronic rs111753331 ZNF765 AU NM_001040185 exon3 c.4049-187delA 0.530351 0.4851 Uncertain 19_53910912_G->A 19 53910912 53910912 G A snp 949.77 0/1 99 75 38 37 0.49 intronic rs2061773 ZNF765 AU NM_001040185 exon4 c.9682-38G>A 0.771965 0.6687 0.831581 0.8366 0.6616 Uncertain 19_53911973_A->G 19 53911973 53911973 A G snp 2011.77 0/1 99 175 89 86 0.49 exonic rs10425136 ZNF765 AU nonsynonymous SNV NM_001040185 exon4 c.A1165G p.S389G 0.771565 0.6667 0.825388 0.8268 0.6592 0.000 P -1.109 T 0.0 T 0.002 T Pathogenic 19_53912242_G->A 19 53912242 53912242 G A snp 2127.77 0/1 99 176 86 90 0.51 exonic rs10426347 ZNF765 AU synonymous SNV NM_001040185 exon4 c.G1434A p.T478T 0.771166 0.6667 0.825515 0.8307 0.6566 Uncertain 19_53912548_T->C 19 53912548 53912548 T C snp 474.77 0/1 99 27 11 16 0.59 UTR3 rs7246019 ZNF765 AU 0.771166 0.6667 Uncertain 19_53926318_T->A 19 53926318 53926318 T A snp 915.77 1/1 69 90 36 54 0.6 intergenic rs36087592 ZNF765 AU 0.421725 0.376 0.4635 0.4306 Uncertain 19_53926320_T->G 19 53926320 53926320 T G snp 880.77 1/1 66 91 36 55 0.6 intergenic rs34818233 ZNF765 AU 0.421725 0.376 0.4650 0.4315 Uncertain 19_53926562_G->T 19 53926562 53926562 G T snp 118.77 0/1 99 93 68 25 0.27 intergenic rs182664823 ZNF765 AU 0.0107827 0.0506 0.0008 0.0116 Uncertain 19_53926566_G->A 19 53926566 53926566 G A snp 121.77 0/1 99 93 68 25 0.27 intergenic rs201465795 ZNF765 AU 0.0125 0.0349 Uncertain 19_53958263_G->A 19 53958263 53958263 G A snp 3213.77 0/1 99 250 129 121 0.48 exonic rs1984432 ZNF761 AU nonsynonymous SNV NM_001289951 exon6 c.G502A p.V168I 0.744808 0.5734 0.769183 0.7497 0.5954 Pathogenic 19_53959177_C->T 19 53959177 53959177 C T snp 1751.77 0/1 99 136 69 67 0.49 exonic ZNF761 AU synonymous SNV NM_001289951 exon6 c.C1416T p.D472D Uncertain 19_53983591_-->ATA 19 53983591 53983591 - ATA indel 392.73 0/1 99 13 3 10 0.77 intronic rs368010201 ZNF813 AU Uncertain 19_53983605_G->T 19 53983605 53983605 G T snp 66.77 0/1 93 8 3 5 0.63 intronic rs2617682 ZNF813 AU Uncertain 19_54007145_G->A 19 54007145 54007145 G A snp 2207.77 0/1 99 131 39 92 0.7 intergenic rs72487103 ZNF813 AU Uncertain 19_54007157_G->T 19 54007157 54007157 G T snp 96.77 0/1 99 124 85 39 0.31 intergenic rs2290997 ZNF813 AU Uncertain 19_54072757_C->T 19 54072757 54072757 C T snp 2327.77 1/1 99 67 0 67 1.0 intronic rs3746304 ZNF331 AU NM_001253801 exon3 c.9+118C>T 0.74361 0.6954 Uncertain 19_54072782_T->C 19 54072782 54072782 T C snp 1452.77 1/1 99 37 0 37 1.0 intronic rs3746303 ZNF331 AU NM_001253801 exon3 c.9+143T>C 0.40655 0.5387 Uncertain 19_54080144_A->G 19 54080144 54080144 A G snp 2624.77 1/1 99 100 0 100 1.0 exonic rs8109631 ZNF331 AU synonymous SNV NM_001253801 exon5 c.A330G p.R110R 0.74381 0.6954 0.772105 0.7094 0.6772 Uncertain 19_54105149_G->A 19 54105149 54105149 G A snp 83.77 0/1 69 6 3 3 0.5 ncRNA_intronic rs80164763 LOC284379 AU 0.0125799 0.0317 Uncertain 19_54105522_GTGTGTGTGT->- 19 54105522 54105531 GTGTGTGTGT - indel 839.73 0/1 99 39 6 33 0.85 ncRNA_intronic rs756540530 LOC284379 AU Uncertain 19_54106546_-->G 19 54106546 54106546 - G indel 216.73 0/1 72 10 3 7 0.7 ncRNA_intronic rs200915178 LOC284379 AU 0.0131789 0.0228 Uncertain 19_54106547_G->A 19 54106547 54106547 G A snp 67.77 0/1 96 10 7 3 0.3 ncRNA_intronic rs1541925 LOC284379 AU 0.422524 0.4147 Uncertain 19_54106756_C->T 19 54106756 54106756 C T snp 2586.77 1/1 99 93 0 93 1.0 upstream rs13344462 LOC284379 AU 0.167332 0.1746 Uncertain 19_54106763_C->T 19 54106763 54106763 C T snp 2602.77 1/1 99 92 0 92 1.0 upstream rs13344463 LOC284379 AU 0.166933 0.1746 Uncertain 19_54106839_C->T 19 54106839 54106839 C T snp 1480.77 1/1 99 49 0 49 1.0 upstream rs13344898 LOC284379 AU 0.266973 0.3562 Uncertain 19_54135570_C->T 19 54135570 54135570 C T snp 40.77 0/1 33 3 1 2 0.67 intronic rs35635203 DPRX AU NM_001012728 exon1 c.28+182C>T 0.452276 0.4325 Uncertain 19_54140338_G->A 19 54140338 54140338 G A snp 904.77 0/1 99 63 30 33 0.52 downstream rs58608236 DPRX AU 0.150559 0.1171 Uncertain 19_54182249_T->C 19 54182249 54182249 T C snp 2928.77 0/1 99 245 129 116 0.47 upstream rs7256893 MIR515-2 AU 0.285343 0.2123 0.274466 0.2257 0.2120 Uncertain 19_54185247_T->C 19 54185247 54185247 T C snp 186.77 0/1 99 12 6 6 0.5 upstream rs28547213 MIR520F AU 0.167532 0.1806 Uncertain 19_54185252_-->G 19 54185252 54185252 - G indel 198.73 0/1 99 12 6 6 0.5 upstream rs111455872 MIR520F AU 0.146366 0.1091 Uncertain 19_54185311_C->T 19 54185311 54185311 C T snp 774.77 0/1 99 71 38 33 0.46 upstream rs28653280 MIR520F AU 0.495008 0.505 Uncertain 19_54188219_G->A 19 54188219 54188219 G A snp 6692.77 1/1 99 250 0 250 1.0 upstream rs2060230 MIR515-1 AU 0.878994 0.8562 0.908738 0.8738 0.8503 Uncertain 19_54191743_A->G 19 54191743 54191743 A G snp 2060.77 0/1 99 161 71 90 0.56 ncRNA_exonic rs57111412 MIR1283-1 AU 0.291933 0.2976 0.178058 0.1544 0.2845 Uncertain 19_54191869_A->G 19 54191869 54191869 A G snp 923.77 0/1 99 87 50 37 0.43 downstream rs1988088 MIR1283-1 AU 0.455871 0.5804 0.309515 0.3332 0.5900 Uncertain 19_54197633_A->G 19 54197633 54197633 A G snp 1106.77 0/1 99 84 41 43 0.51 upstream rs10413288 MIR519B AU 0.65016 0.6448 0.559417 0.5170 0.6441 Uncertain 19_54200619_G->A 19 54200619 54200619 G A snp 281.77 0/1 99 19 10 9 0.47 upstream rs1989486 MIR525 AU 0.632788 0.6438 Uncertain 19_54205961_T->A 19 54205961 54205961 T A snp 1314.77 0/1 99 102 47 55 0.54 upstream rs10414727 MIR518B AU 0.42512 0.3601 0.395728 0.3477 0.3291 Uncertain 19_54210519_G->C 19 54210519 54210519 G C snp 245.8 1/1 21 8 0 8 1.0 upstream;downstream rs7255365 MIR520C;MIR526A1 UN 0.483826 0.6171 Uncertain 19_54211903_T->G 19 54211903 54211903 T G snp 2096.77 1/1 99 73 0 73 1.0 upstream rs7256241 MIR518C AU 0.492412 0.4762 Uncertain 19_54215748_A->G 19 54215748 54215748 A G snp 41.77 0/1 70 4 2 2 0.5 upstream;downstream rs2865851 MIR519D;MIR517A UN 0.402356 0.4127 Uncertain 19_54216777_-->TTTG 19 54216777 54216777 - TTTG indel 1214.73 0/1 99 64 25 39 0.61 downstream rs5828551 MIR519D AU Uncertain 19_54216813_A->T 19 54216813 54216813 A T snp 441.77 0/1 99 30 13 17 0.57 downstream rs2865855 MIR519D AU 0.415535 0.3641 Uncertain 19_54224191_A->G 19 54224191 54224191 A G snp 330.77 0/1 99 32 20 12 0.38 upstream;downstream rs12973211 MIR517B;MIR520D UN 0.61881 0.5784 Uncertain 19_54224286_A->- 19 54224286 54224286 A - indel 1961.73 0/1 99 144 70 74 0.51 upstream;downstream rs58416318 MIR517B;MIR520D UN 0.5866 0.5973 Uncertain 19_54225616_T->A 19 54225616 54225616 T A snp 92.77 0/1 99 13 8 5 0.38 downstream rs10426037 MIR520G AU 0.328275 0.4157 Uncertain 19_54239898_A->G 19 54239898 54239898 A G snp 616.77 0/1 99 58 33 25 0.43 upstream MIR516B1 AU Uncertain 19_54255879_TTT->- 19 54255879 54255881 TTT - indel 201.87 1/1 15 16 0 16 1.0 downstream rs56196717 MIR519A1 AU 0.763578 0.75 Uncertain 19_54257185_C->A 19 54257185 54257185 C A snp 1968.77 1/1 99 60 0 60 1.0 upstream rs611356 MIR527 AU 0.052516 0.1399 Uncertain 19_54257190_A->G 19 54257190 54257190 A G snp 2015.77 1/1 99 60 0 60 1.0 upstream rs62144158 MIR527 AU 0.805312 0.8889 Uncertain 19_54257191_C->A 19 54257191 54257191 C A snp 2043.77 1/1 99 61 0 61 1.0 upstream rs611370 MIR527 AU 0.805511 0.879 Uncertain 19_54261669_G->T 19 54261669 54261669 G T snp 182.9 1/1 15 5 0 5 1.0 downstream rs683060 MIR1283-2 AU 0.836861 0.8889 Uncertain 19_54291279_C->T 19 54291279 54291279 C T snp 253.77 0/1 99 28 16 12 0.43 upstream;downstream rs76335922 MIR371B AU 0.090655 0.1171 0.073806 Uncertain 19_54297234_G->T 19 54297234 54297234 G T snp 633.77 0/1 99 65 39 26 0.4 UTR3 rs10410581 NLRP12 AD 0.104433 0.1468 Uncertain 19_54297423_T->C 19 54297423 54297423 T C snp 1576.77 0/1 99 140 72 68 0.49 intronic rs67485804 NLRP12 AD NM_144687 exon1 c.88+33T>C 0.0972444 0.1468 0.053975 0.0712 0.1422 Uncertain 19_54297538_A->G 19 54297538 54297538 A G snp 340.77 0/1 99 18 6 12 0.67 intronic rs6509817 NLRP12 AD NM_144687 exon1 c.88+148A>G 0.525958 0.3462 Uncertain 19_54304702_C->T 19 54304702 54304702 C T snp 65.77 0/1 94 9 6 3 0.33 intronic rs7258561 NLRP12 AD NM_144687 exon4 c.7349+51C>T 0.535543 0.5288 0.2430 0.3099 Uncertain 19_54307322_G->A 19 54307322 54307322 G A snp 2818.77 0/1 99 250 132 118 0.47 exonic rs12460528 NLRP12 AD synonymous SNV NM_144687 exon6 c.C2469T p.L823L 0.426717 0.5675 0.486006 0.5186 0.5717 Uncertain 19_54308554_C->T 19 54308554 54308554 C T snp 2833.77 1/1 99 105 0 105 1.0 exonic rs4806773 NLRP12 AD synonymous SNV NM_144687 exon5 c.G2394A p.Q798Q 0.80631 0.7361 0.854913 0.8474 0.7458 Uncertain 19_54310961_G->C 19 54310961 54310961 G C snp 2452.77 1/1 99 82 0 82 1.0 intronic rs2866112 NLRP12 AD NM_001277126 exon7 c.13620+39G>C 0.783946 0.7411 0.834153 0.8414 0.7469 Uncertain 19_54311090_C->T 19 54311090 54311090 C T snp 264.8 1/1 21 7 0 7 1.0 intronic rs11084300 NLRP12 AD NM_001277126 exon7 c.13620+168C>T 0.562899 0.7192 Uncertain 19_54312796_C->G 19 54312796 54312796 C G snp 215.77 0/1 99 11 4 7 0.64 intronic rs58572468 NLRP12 AD NM_144687 exon8 c.15538-44C>G 0.275160 0.1099 0.1439 Uncertain 19_54314585_G->A 19 54314585 54314585 G A snp 2406.77 1/1 99 82 0 82 1.0 intronic rs6509827 NLRP12 AD NM_144687 exon8 c.17240+43G>A 0.93111 0.876 0.966120 0.9766 0.8798 Uncertain 19_54327440_G->A 19 54327440 54327440 G A snp 1764.77 0/1 99 128 55 73 0.57 UTR5 rs4539722 NLRP12 AD 0.421126 0.5456 0.448408 0.5035 0.5505 Uncertain 19_54327568_A->T 19 54327568 54327568 A T snp 111.77 0/1 64 6 2 4 0.67 UTR5 rs4419163 NLRP12 AD 0.78135 0.7619 Uncertain 19_54385437_A->C 19 54385437 54385437 A C snp 432.77 1/1 33 16 0 16 1.0 upstream rs307942 PRKCG AD 0.989617 1 0.9812 1 Uncertain 19_54385820_C->T 19 54385820 54385820 C T snp 3041.77 1/1 99 107 0 107 1.0 exonic rs2547362 PRKCG AD synonymous SNV NM_002739 exon1 c.C72T p.A24A 0.896366 0.9881 0.882285 0.9463 0.9903 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000118063.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 19_54387313_A->T 19 54387313 54387313 A T snp 1112.77 1/1 81 41 0 41 1.0 intronic rs307956 PRKCG AD NM_002739 exon3 c.1666-101A>T 0.999201 1 Uncertain 19_54445595_G->- 19 54445595 54445595 G - indel 6255.73 1/1 99 191 0 191 1.0 UTR3 rs11324363 CACNG7 AU 0.8752 0.9742 0.8696 0.9686 Uncertain 19_54483335_T->C 19 54483335 54483335 T C snp 342.77 0/1 99 30 18 12 0.4 intronic rs547704161 CACNG8 AU NM_031895 exon3 c.16865+74T>C 0.463858 0.6815 Uncertain 19_54483337_T->C 19 54483337 54483337 T C snp 281.77 0/1 99 26 16 10 0.38 intronic rs202060954 CACNG8 AU NM_031895 exon3 c.16865+76T>C 0.367812 0.4593 Uncertain 19_54483339_T->C 19 54483339 54483339 T C snp 463.77 0/1 99 25 9 16 0.64 intronic rs12979538 CACNG8 AU NM_031895 exon3 c.16865+78T>C 0.669728 0.8125 Uncertain 19_54495932_A->G 19 54495932 54495932 A G snp 120.77 0/1 66 6 2 4 0.67 UTR5 rs3810244 CACNG6 AU 0.696086 0.7143 Uncertain 19_54502791_G->A 19 54502791 54502791 G A snp 1002.77 0/1 99 75 34 41 0.55 intronic rs158199 CACNG6 AU NM_145814 exon3 c.6756-96G>A 0.229233 0.1984 Uncertain 19_54545033_C->T 19 54545033 54545033 C T snp 1070.77 0/1 99 82 40 42 0.51 exonic rs368951394 VSTM1 AU synonymous SNV NM_001288793 exon5 c.G231A p.S77S 0.000399361 0.000077 0.0004 0.0001 ID=COSM3701551;OCCURENCE=1(liver) Uncertain 19_54561385_T->C 19 54561385 54561385 T C snp 52.74 1/1 6 3 0 3 1.0 intronic VSTM1 AU NM_198481 exon7 c.17345-174T>C 0.164137 0.1696 Uncertain 19_54561792_G->A 19 54561792 54561792 G A snp 3801.77 1/1 99 140 1 139 0.99 exonic VSTM1 AU synonymous SNV NM_001288792 exon3 c.C123T p.A41A 0.158946 0.1736 0.175073 0.2188 0.2111 Uncertain 19_54579363_C->A 19 54579363 54579363 C A snp 1496.77 0/1 99 146 77 69 0.47 intronic rs4806706 TARM1 AU NM_001135686 exon4 c.5914+193C>A 0.571885 0.2976 Uncertain 19_54598604_T->G 19 54598604 54598604 T G snp 254.77 0/1 99 28 16 12 0.43 exonic OSCAR AU nonsynonymous SNV NM_133168 exon5 c.A641C p.Y214S 0.0720847 0.0665 0.060863 0.0914 0.1257 0.02 T 1.000 P -0.967 T 0.032 T 0.064 T Pathogenic 19_54600232_A->C 19 54600232 54600232 A C snp 1971.77 0/1 99 154 70 84 0.55 exonic OSCAR AU nonsynonymous SNV NM_001282350 exon3 c.T257G p.I86S 0.866414 0.6984 0.945948 0.9344 0.7033 0.36 T 0.001 P -0.991 T 0.002 T 0.005 T Pathogenic 19_54606209_T->G 19 54606209 54606209 T G snp 2060.77 1/1 99 77 0 77 1.0 intronic NDUFA3 AU NM_004542 exon1 c.10+13T>G 0.907947 0.6994 0.989695 0.9430 0.7089 Uncertain 19_54613420_G->A 19 54613420 54613420 G A snp 2384.77 1/1 99 80 0 80 1.0 intronic TFPT AU NM_013342 exon4 c.3077-13G>A 0.180711 0.1944 0.164078 0.1909 0.1920 Uncertain 19_54626055_C->G 19 54626055 54626055 C G snp 681.77 1/1 51 21 0 21 1.0 intronic PRPF31 AD NM_015629 exon5 c.4315+82C>G 0.188299 0.1974 Uncertain 19_54627097_T->C 19 54627097 54627097 T C snp 1403.77 1/1 99 38 0 38 1.0 intronic PRPF31 AD NM_015629 exon7 c.5469-30T>C 0.911142 0.7034 0.993148 0.9514 0.7212 Uncertain 19_54627462_G->A 19 54627462 54627462 G A snp 551.77 1/1 45 16 0 16 1.0 intronic PRPF31 AD NM_015629 exon7 c.5639+165G>A 0.182508 0.1964 Uncertain 19_54631378_T->C 19 54631378 54631378 T C snp 385.77 1/1 30 12 0 12 1.0 intronic PRPF31 AD NM_015629 exon10 c.9789-69T>C 0.773562 0.6558 Uncertain 19_54631880_T->C 19 54631880 54631880 T C snp 56.74 1/1 6 2 0 2 1.0 intronic PRPF31 AD NM_015629 exon11 c.10094+128T>C 0.765176 0.6498 Uncertain 19_54632352_C->G 19 54632352 54632352 C G snp 432.77 1/1 33 13 0 13 1.0 intronic PRPF31 AD NM_015629 exon12 c.10773-79C>G 0.766374 0.6508 Uncertain 19_54632423_T->C 19 54632423 54632423 T C snp 1193.77 1/1 87 43 0 43 1.0 intronic PRPF31 AD NM_015629 exon12 c.10773-8T>C 0.753195 0.6508 0.825554 0.8197 0.6879 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000153773.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 19_54632691_C->T 19 54632691 54632691 C T snp 874.77 0/1 99 69 31 38 0.55 exonic PRPF31 AD synonymous SNV NM_015629 exon13 c.C1320T p.T440T 0.000599042 0.003 0.0003 0.0045 0.15 T 0.999 N -0.898 T 0.0 T 0.0 T Likely benign 19_54647078_-->GG 19 54647078 54647078 - GG indel 201.73 0/1 99 14 6 8 0.57 intronic CNOT3 AU NM_014516 exon4 c.463-99insGG 0.183506 0.2599 Uncertain 19_54649671_T->C 19 54649671 54649671 T C snp 4965.77 1/1 99 175 0 175 1.0 exonic CNOT3 AU synonymous SNV NM_014516 exon9 c.T729C p.P243P 0.994609 0.9762 0.999769 0.9983 0.9795 1.0 P -1.022 T Likely benign 19_54651774_C->T 19 54651774 54651774 C T snp 195.77 0/1 99 13 5 8 0.62 intronic CNOT3 AU NM_014516 exon11 c.5168-108C>T 0.207668 0.3016 Uncertain 19_54652203_T->C 19 54652203 54652203 T C snp 2058.77 1/1 99 67 0 67 1.0 exonic CNOT3 AU synonymous SNV NM_014516 exon11 c.T1215C p.G405G 0.727037 0.5804 0.801136 0.7709 0.6142 0.0 P -1.021 T Likely benign 19_54653572_C->T 19 54653572 54653572 C T snp 1123.77 0/1 99 92 42 50 0.54 intronic CNOT3 AU NM_014516 exon13 c.6779+79C>T 0.208866 0.1627 Uncertain 19_54653598_TT->- 19 54653598 54653599 TT - indel 1257.73 0/1 99 54 24 30 0.56 intronic rs1611078 CNOT3 AU NM_014516 exon13 c.6779+105_6779+106delTT 0.208666 0.1627 Uncertain 19_54656709_A->T 19 54656709 54656709 A T snp 1066.77 0/1 99 90 38 52 0.58 exonic rs77902046 CNOT3 AU synonymous SNV NM_014516 exon16 c.A2010T p.T670T 0.0385383 0.0903 0.019299 0.0413 0.0997 0.04 T 1.000 P -1.073 T Likely benign 19_54657069_C->T 19 54657069 54657069 C T snp 2104.77 0/1 99 159 73 86 0.54 intronic CNOT3 AU NM_014516 exon16 c.10022+333C>T 0.196286 0.1637 0.219567 0.2381 0.1487 0 D 0.0 P -1.014 T Uncertain 19_54657877_T->C 19 54657877 54657877 T C snp 518.77 0/1 99 72 49 23 0.32 intronic CNOT3 AU NM_014516 exon17 c.10863+300T>C 0.397165 0.2579 Uncertain 19_54664209_G->C 19 54664209 54664209 G C snp 1919.77 0/1 99 172 90 82 0.48 exonic TMC4 AU nonsynonymous SNV NM_001145303 exon14 c.C2065G p.Q689E 0.512181 0.255 0.534446 0.5014 0.2636 1 T 0.0 P -0.971 T 0.0 T 0.002 T Pathogenic 19_54664752_A->C 19 54664752 54664752 A C snp 865.77 0/1 99 96 55 41 0.43 exonic TMC4 AU synonymous SNV NM_001145303 exon13 c.T1854G p.L618L 0.433906 0.2073 0.471090 0.4605 0.2172 Uncertain 19_54665970_C->T 19 54665970 54665970 C T snp 1029.77 0/1 99 104 55 49 0.47 exonic rs36655 TMC4 AU synonymous SNV NM_001145303 exon11 c.G1572A p.Q524Q 0.247005 0.1558 0.282120 0.3192 0.1938 Uncertain 19_54666060_T->C 19 54666060 54666060 T C snp 299.77 0/1 99 19 9 10 0.53 intronic rs12978996 TMC4 AU NM_001145303 exon5 c.1979+39T>C 0.335863 0.2907 0.334540 0.4152 0.3934 Uncertain 19_54666078_C->A 19 54666078 54666078 C A snp 304.78 1/1 24 8 0 8 1.0 intronic TMC4 AU NM_001145303 exon5 c.1979+57C>A 0.63778 0.4673 Uncertain 19_54666537_G->A 19 54666537 54666537 G A snp 1609.77 0/1 99 137 67 70 0.51 intronic TMC4 AU NM_001145303 exon6 c.2461+34G>A 0.0982428 0.1062 0.055145 0.0453 0.1119 Uncertain 19_54666909_-->GAG 19 54666909 54666909 - GAG indel 2208.73 0/1 99 109 59 50 0.46 intronic rs59605238 TMC4 AU NM_001145303 exon7 c.2850+17insGAG 0.0435304 0.0942 0.018450 0.0190 0.0990 Uncertain 19_54666971_G->A 19 54666971 54666971 G A snp 280.77 0/1 99 24 14 10 0.42 intronic TMC4 AU NM_001145303 exon7 c.2850+79G>A 0.033746 0.0883 Uncertain 19_54668392_G->A 19 54668392 54668392 G A snp 664.77 0/1 99 65 34 31 0.48 intronic TMC4 AU NM_001145303 exon9 c.4293+57G>A 0.0503195 0.0248 0.0562 0.0349 Uncertain 19_54668487_C->T 19 54668487 54668487 C T snp 277.77 0/1 99 21 10 11 0.52 intronic TMC4 AU NM_001145303 exon9 c.4293+152C>T 0.192891 0.1567 Uncertain 19_54672460_C->T 19 54672460 54672460 C T snp 184.77 0/1 99 27 16 11 0.41 intronic rs6509847 TMC4 AU NM_001145303 exon12 c.8364+54C>T 0.197684 0.2421 Uncertain 19_54672506_T->C 19 54672506 54672506 T C snp 32.77 0/1 61 7 5 2 0.29 intronic TMC4 AU NM_001145303 exon12 c.8364+100T>C Uncertain 19_54675769_CCC->- 19 54675769 54675771 CCC - indel 3706.73 0/1 99 126 52 74 0.59 exonic TMC4 AU nonframeshift deletion NM_001145303 exon2 c.179_181del p.60_61del 0.0227636 0.0873 0.018211 0.0136 0.0970 Uncertain 19_54676763_C->T 19 54676763 54676763 C T snp 1725.77 0/1 99 145 69 76 0.52 exonic TMC4 AU nonsynonymous SNV NM_001145303 exon1 c.G50A p.G17E 0.373802 0.2173 0.406889 0.4059 0.2359 0.99 T 0.000 P -1.002 T 0.001 T 0.003 T Pathogenic 19_54676814_-->C 19 54676814 54676814 - C indel 2667.73 1/1 99 78 0 78 1.0 UTR5 TMC4 AU 0.402556 0.3036 0.415735 0.4210 0.3345 Uncertain 19_54677759_T->C 19 54677759 54677759 T C snp 761.77 1/1 57 23 0 23 1.0 exonic MBOAT7 AR synonymous SNV NM_001146056 exon6 c.A1179G p.P393P 0.99381 0.9702 0.999923 0.9982 0.9754 Uncertain 19_54677897_G->A 19 54677897 54677897 G A snp 1949.77 0/1 99 173 88 85 0.49 exonic MBOAT7 AR synonymous SNV NM_001146056 exon6 c.C1041T p.A347A 0.183906 0.124 0.169076 0.1492 0.1377 Uncertain 19_54687334_C->G 19 54687334 54687334 C G snp 1869.77 0/1 99 158 78 80 0.51 intronic MBOAT7 AR NM_001146056 exon4 c.9666-69C>G 0.430112 0.2817 Uncertain 19_54691225_T->C 19 54691225 54691225 T C snp 1557.77 1/1 99 61 0 61 1.0 intronic MBOAT7 AR NM_024298 exon5 c.13432+56T>C 0.742412 0.4673 Uncertain 19_54691979_G->C 19 54691979 54691979 G C snp 172.9 1/1 15 5 0 5 1.0 intronic MBOAT7 AR NM_001146056 exon5 c.14333-91G>C 0.600439 0.4196 Uncertain 19_54692523_G->A 19 54692523 54692523 G A snp 133.03 1/1 12 4 0 4 1.0 intronic MBOAT7 AR NM_024298 exon7 c.14628+158G>A 0.60024 0.4196 Uncertain 19_54695163_T->C 19 54695163 54695163 T C snp 182.9 1/1 15 6 0 6 1.0 intronic TSEN34 AU NM_001282333 exon2 c.994-48T>C 0.741813 0.4593 0.7937 0.4395 Uncertain 19_54696167_C->A 19 54696167 54696167 C A snp 350.77 0/1 99 47 31 16 0.34 exonic rs11879943 TSEN34 AU synonymous SNV NM_024075 exon4 c.C688A p.R230R 0.0451278 0.1319 0.018032 0.0206 0.1414 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_provided|not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter|criteria_provided\x2c_single_submitter;CLNACC=RCV000125713.1|RCV000147765.1;CLNDSDB=MedGen|MedGen;CLNDSDBID=CN221809|CN169374 Uncertain 19_54697079_C->T 19 54697079 54697079 C T snp 2066.77 1/1 99 73 0 73 1.0 exonic TSEN34 AU synonymous SNV NM_024075 exon5 c.C795T p.P265P 0.748203 0.4802 0.826864 0.7722 0.4948 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000147766.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 19_54697246_G->A 19 54697246 54697246 G A snp 1100.77 0/1 99 87 41 46 0.53 UTR3 TSEN34 AU 0.0451278 0.1319 0.018044 0.0211 0.1453 Uncertain 19_54697602_G->A 19 54697602 54697602 G A snp 2217.77 1/1 99 75 0 75 1.0 UTR3 TSEN34 AU 0.748203 0.4802 Uncertain 19_54697714_C->T 19 54697714 54697714 C T snp 298.78 1/1 24 9 0 9 1.0 UTR3 TSEN34 AU 0.748802 0.4812 Uncertain 19_54705207_G->A 19 54705207 54705207 G A snp 2194.77 0/1 99 219 113 106 0.48 intronic RPS9 AU NM_001013 exon2 c.97+58G>A 0.191294 0.246 Uncertain 19_54705619_A->G 19 54705619 54705619 A G snp 944.77 0/1 99 87 51 36 0.41 intronic RPS9 AU NM_001013 exon3 c.425+142A>G 0.933706 0.7381 Uncertain 19_54724794_C->T 19 54724794 54724794 C T snp 493.77 0/1 99 26 8 18 0.69 intronic rs200208999 LILRB3 AU NM_001081450 exon6 c.2153+1680C>T Uncertain 19_54725798_G->T 19 54725798 54725798 G T snp 1163.77 1/1 87 47 0 47 1.0 intronic rs75069054 LILRB3 AU NM_001081450 exon6 c.2153+2684G>T 0.529553 0.6359 0.3329 0.6044 0.2 T 0.000 P -1.015 T 0.935 T 0.711 D Uncertain 19_54725930_C->T 19 54725930 54725930 C T snp 30.77 0/1 59 9 6 3 0.33 intronic rs61480095 LILRB3 AU NM_001081450 exon6 c.2153+2816C>T 0.449081 0.626 0.6451 0.7330 1 T 0.0 P -0.997 T 0.13 T 0.016 T Uncertain 19_54726162_T->G 19 54726162 54726162 T G snp 131.77 0/1 99 136 95 41 0.3 intronic rs56182917 LILRB3 AU NM_001081450 exon6 c.2153+3048T>G 0.858687 0.7177 0.5417 1 T 1.000 P -1.009 T 0.001 T 0.0 T Uncertain 19_54726226_T->C 19 54726226 54726226 T C snp 735.77 0/1 99 249 162 87 0.35 intronic rs75672336 LILRB3 AU NM_001081450 exon6 c.2153+3112T>C 0.821685 0.7768 0.900166 0.9013 0.7769 Uncertain 19_54726241_C->T 19 54726241 54726241 C T snp 527.77 0/1 99 250 173 77 0.31 intronic rs77279742 LILRB3 AU NM_001081450 exon6 c.2153+3127C>T 0.453674 0.4871 0.482397 0.4730 0.4981 0.37 T 0.0 P -0.964 T 0.804 T 0.207 P Uncertain 19_54726299_A->C 19 54726299 54726299 A C snp 153.77 0/1 99 249 194 55 0.22 intronic rs80077296 LILRB3 AU NM_001081450 exon6 c.2153+3185A>C 0.4815 0.4936 1 T 0.0 P -0.942 T 0.001 T 0.003 T Uncertain 19_54726630_C->T 19 54726630 54726630 C T snp 255.77 0/1 99 51 28 23 0.45 intronic rs201587814 LILRB3 AU NM_001081450 exon6 c.2153+3516C>T 0.4040 0.4668 0.89 T 0.0 P -0.912 T 0.002 T 0.003 T Uncertain 19_54726665_G->A 19 54726665 54726665 G A snp 626.77 0/1 99 91 52 39 0.43 intronic rs373978777 LILRB3 AU NM_001081450 exon6 c.2153+3551G>A 0.4464 0.4792 Uncertain 19_54726701_-->TCC 19 54726701 54726701 - TCC indel 2286.73 0/1 99 116 70 46 0.4 intronic rs200031404 LILRB3 AU NM_001081450 exon6 c.2153+3587insTCC 0.384784 0.4673 0.222037 0.2226 0.2852 Uncertain 19_54726711_G->T 19 54726711 54726711 G T snp 1090.77 0/1 99 151 93 58 0.38 intronic rs140063405 LILRB3 AU NM_001081450 exon6 c.2153+3597G>T Uncertain 19_54726816_A->T 19 54726816 54726816 A T snp 2203.77 0/1 99 250 143 107 0.43 intronic rs80332440 LILRB3 AU NM_001081450 exon6 c.2153+3702A>T 0.1958 0.2774 Uncertain 19_54726833_T->C 19 54726833 54726833 T C snp 2164.77 0/1 99 248 144 104 0.42 intronic rs149695852 LILRB3 AU NM_001081450 exon6 c.2153+3719T>C 0.1259 0.1745 0.04 T 0.000 P -0.924 T 0.336 T 0.065 T Uncertain 19_54726839_C->T 19 54726839 54726839 C T snp 2085.77 0/1 99 249 145 104 0.42 intronic rs141453251 LILRB3 AU NM_001081450 exon6 c.2153+3725C>T 0.270567 0.4028 0.1062 0.1645 1 T 0.0 P -0.990 T 0.599 T 0.019 P Uncertain 19_54726843_C->G 19 54726843 54726843 C G snp 2087.77 0/1 99 245 145 100 0.41 intronic rs138124247 LILRB3 AU NM_001081450 exon6 c.2153+3729C>G 0.35024 0.4345 0.1115 0.1560 Uncertain 19_54726861_C->T 19 54726861 54726861 C T snp 2172.77 0/1 99 245 141 104 0.42 intronic rs114813697 LILRB3 AU NM_001081450 exon6 c.2153+3747C>T 0.0637 0.0624 Uncertain 19_54726872_C->G 19 54726872 54726872 C G snp 1981.77 0/1 99 230 130 100 0.43 intronic rs140228691 LILRB3 AU NM_001081450 exon6 c.2153+3758C>G 0.1032 0.1556 Uncertain 19_54743747_C->G 19 54743747 54743747 C G snp 1197.77 0/1 99 89 47 42 0.47 intronic rs10403230 LILRA6 AU NM_024318 exon2 c.948-29C>G 0.1745 0.2957 Uncertain 19_54745507_T->C 19 54745507 54745507 T C snp 264.78 1/1 24 15 0 15 1.0 exonic rs61734496 LILRA6 AU synonymous SNV NM_001081450 exon4 c.A603G p.T201T 0.430911 0.5685 0.0404 0.0235 Uncertain 19_54745508_G->A 19 54745508 54745508 G A snp 270.78 1/1 24 15 0 15 1.0 exonic rs1052970 LILRA6 AU nonsynonymous SNV NM_001081450 exon4 c.C602T p.T201I 0.403554 0.5675 0.0183 0.0237 0.02 T 0.0 P -0.990 T 0.965 D 0.845 D Pathogenic 19_54745550_G->T 19 54745550 54745550 G T snp 236.8 1/1 21 16 4 12 0.75 exonic rs71257443 LILRA6 AU nonsynonymous SNV NM_001081450 exon4 c.C560A p.T187N 0.0923 0.1085 0.2 T 0.0 P -1.023 T 0.94 T 0.724 D Pathogenic 19_54745682_C->T 19 54745682 54745682 C T snp 171.9 1/1 15 10 2 8 0.8 exonic rs111666280 LILRA6 AU nonsynonymous SNV NM_001081450 exon4 c.G428A p.R143Q 0.0017 0.0044 1 T 1 N -0.971 T 0.393 T 0.144 T Pathogenic 19_54745835_G->A 19 54745835 54745835 G A snp 86.28 1/1 9 3 0 3 1.0 intronic rs113952114 LILRA6 AU NM_024318 exon6 c.3072-65G>A Uncertain 19_54745978_T->C 19 54745978 54745978 T C snp 852.77 1/1 81 76 0 76 1.0 exonic rs1052964 LILRA6 AU synonymous SNV NM_001081450 exon3 c.A279G p.A93A 0.1262 0.3863 Uncertain 19_54745989_G->C 19 54745989 54745989 G C snp 1059.77 1/1 99 86 0 86 1.0 exonic rs1052963 LILRA6 AU nonsynonymous SNV NM_001081450 exon3 c.C268G p.Q90E 0.0886581 0.2798 0.010848 0.0312 0.1129 1 T 1 N -1.045 T 0.009 T 0.008 T Pathogenic 19_54745993_C->T 19 54745993 54745993 C T snp 1178.77 1/1 99 92 0 92 1.0 exonic rs11673178 LILRA6 AU nonsynonymous SNV NM_001081450 exon3 c.G264A p.M88I 0.0800719 0.245 0.010235 0.0089 0.0588 0.34 T 1 N -1.047 T 0.828 T 0.611 P Pathogenic 19_54746051_A->C 19 54746051 54746051 A C snp 2513.77 1/1 99 142 0 142 1.0 exonic rs620207 LILRA6 AU nonsynonymous SNV NM_001081450 exon3 c.T206G p.L69W 0.4809 0.5379 1 T 0.0 P -0.947 T 0.168 T 0.162 T Pathogenic 19_54746081_T->C 19 54746081 54746081 T C snp 2702.77 1/1 99 144 0 144 1.0 exonic rs28445220 LILRA6 AU nonsynonymous SNV NM_001081450 exon3 c.A176G p.Q59R 0.4383 0.6239 1 T 0.0 P -0.975 T 0.001 T 0.002 T Pathogenic 19_54746260_C->T 19 54746260 54746260 C T snp 67.28 1/1 9 10 6 4 0.4 intronic rs201479965 LILRA6 AU NM_024318 exon6 c.3358+74C>T Uncertain 19_54754752_T->C 19 54754752 54754752 T C snp 1078.77 1/1 78 40 0 40 1.0 exonic LILRB5 AU synonymous SNV NM_001081443 exon12 c.A1374G p.L458L 0.842652 0.8452 0.822593 0.8200 0.8304 Uncertain 19_54754820_T->G 19 54754820 54754820 T G snp 99.28 1/1 9 6 0 6 1.0 exonic LILRB5 AU unknown 0.830471 0.8294 0.795178 0.8130 0.8031 0.18 T 0.0 P -1.067 T 0.0 T 0.0 T Uncertain 19_54755860_A->T 19 54755860 54755860 A T snp 326.78 1/1 27 9 0 9 1.0 intronic LILRB5 AU NM_001081442 exon2 c.1267-56A>T 0.736222 0.7778 Uncertain 19_54755994_G->A 19 54755994 54755994 G A snp 3375.77 1/1 99 133 1 132 0.99 intronic LILRB5 AU NM_001081442 exon2 c.1320+25G>A 0.807308 0.8661 0.787713 0.8110 0.8580 Uncertain 19_54756024_A->C 19 54756024 54756024 A C snp 3388.77 1/1 99 135 0 135 1.0 intronic LILRB5 AU NM_001081442 exon2 c.1320+55A>C 0.573482 0.7679 0.526500 Uncertain 19_54756118_A->G 19 54756118 54756118 A G snp 1746.77 1/1 99 56 0 56 1.0 intronic LILRB5 AU NM_001081442 exon3 c.1579-110A>G 0.517971 0.6815 Uncertain 19_54756142_T->C 19 54756142 54756142 T C snp 1083.77 1/1 81 31 0 31 1.0 intronic LILRB5 AU NM_001081442 exon3 c.1579-86T>C 0.429313 0.6687 Uncertain 19_54756302_A->G 19 54756302 54756302 A G snp 1097.77 1/1 78 42 0 42 1.0 intronic LILRB5 AU NM_001081442 exon3 c.1617+36A>G 0.998203 0.9911 0.9993 0.9901 Uncertain 19_54756657_C->T 19 54756657 54756657 C T snp 5596.77 1/1 99 207 0 207 1.0 intronic LILRB5 AU NM_001081442 exon5 c.2084-76C>T 0.798522 0.8968 Uncertain 19_54758504_C->G 19 54758504 54758504 C G snp 1351.77 0/1 99 103 53 50 0.49 intronic rs117301131 LILRB5 AU NM_001081442 exon8 c.3948-93C>G 0.0185703 0.0893 0.0239 0.1812 Uncertain 19_54778707_T->G 19 54778707 54778707 T G snp 107.77 0/1 99 29 20 9 0.31 intronic LILRB2 AU NM_001278404 exon1 c.147+24T>G 0.1352 0.3079 Uncertain 19_54778725_T->G 19 54778725 54778725 T G snp 62.77 0/1 91 43 30 13 0.3 intronic LILRB2 AU NM_001278404 exon1 c.147+42T>G 0.0003 0 Uncertain 19_54778822_G->A 19 54778822 54778822 G A snp 123.77 0/1 99 30 20 10 0.33 intronic LILRB2 AU NM_001278404 exon1 c.147+139G>A Uncertain 19_54778834_G->A 19 54778834 54778834 G A snp 48.77 0/1 77 23 16 7 0.3 intronic LILRB2 AU NM_001278404 exon1 c.147+151G>A Uncertain 19_54781541_C->T 19 54781541 54781541 C T snp 1272.77 1/1 96 41 0 41 1.0 intronic LILRB2 AU NM_001278406 exon1 c.59+87C>T 0.222244 0.6111 Uncertain 19_54781554_C->T 19 54781554 54781554 C T snp 1448.77 1/1 99 44 0 44 1.0 intronic LILRB2 AU NM_001278406 exon1 c.59+100C>T 0.218051 0.6081 Uncertain 19_54781557_T->C 19 54781557 54781557 T C snp 1478.77 1/1 99 48 1 47 0.98 intronic LILRB2 AU NM_001278406 exon1 c.59+103T>C 0.21845 0.6081 Uncertain 19_54782919_C->T 19 54782919 54782919 C T snp 4709.77 1/1 99 162 0 162 1.0 exonic LILRB2 AU nonsynonymous SNV NM_001278404 exon5 c.G355A p.V119M 0.251797 0.6052 0.172151 0.2380 0.6641 0.06 T 0.0 P -0.859 T 0.804 T 0.432 P Pathogenic 19_54783375_T->A 19 54783375 54783375 T A snp 5446.77 1/1 99 186 0 186 1.0 exonic LILRB2 AU nonsynonymous SNV NM_001278404 exon4 c.A135T p.E45D 0.844649 0.9147 0.832180 0.8001 0.9320 1 T 0.0 P -0.961 T 0.0 T 0.0 T Pathogenic 19_54783521_C->T 19 54783521 54783521 C T snp 2512.77 1/1 99 81 0 81 1.0 intronic LILRB2 AU NM_001278406 exon5 c.2107+19C>T 0.251398 0.6032 0.171459 0.2386 0.6555 Uncertain 19_54783923_A->G 19 54783923 54783923 A G snp 3262.77 1/1 99 108 0 108 1.0 exonic LILRB2 AU synonymous SNV NM_001278405 exon3 c.T78C p.I26I 0.974042 1 0.955552 0.9567 0.9998 Uncertain 19_54784130_T->C 19 54784130 54784130 T C snp 666.77 1/1 51 17 0 17 1.0 exonic LILRB2 AU nonsynonymous SNV NM_001278405 exon2 c.A59G p.H20R 0.234026 0.6012 0.149854 0.2311 0.6551 0.72 T 0.0 P -1.088 T 0.001 T 0.008 T Pathogenic 19_54784920_C->T 19 54784920 54784920 C T snp 238.8 1/1 21 7 0 7 1.0 UTR5 LILRB2 AU 0.233826 0.5933 Uncertain 19_54797848_C->T 19 54797848 54797848 C T snp 2260.77 1/1 99 78 0 78 1.0 intergenic MIR4752 AU 0.217652 0.5129 Uncertain 19_54800222_A->G 19 54800222 54800222 A G snp 1149.77 1/1 84 41 0 41 1.0 intronic LILRA3 AU NM_006865 exon1 c.59+118A>G 0.500399 0.7232 Uncertain 19_54800225_A->G 19 54800225 54800225 A G snp 1086.77 1/1 78 40 0 40 1.0 intronic LILRA3 AU NM_006865 exon1 c.59+121A>G 0.483027 0.7192 Uncertain 19_54823533_T->C 19 54823533 54823533 T C snp 218.84 1/1 18 6 0 6 1.0 intronic LILRA5 AU NM_181879 exon3 c.1007-71T>C 0.460264 0.754 Uncertain 19_54824177_C->T 19 54824177 54824177 C T snp 734.77 1/1 54 26 0 26 1.0 intronic LILRA5 AU NM_181985 exon6 c.5589-109C>T 0.462061 0.753 Uncertain 19_54848507_T->C 19 54848507 54848507 T C snp 602.77 1/1 48 16 0 16 1.0 intronic rs55873636 LILRA4 AU NM_012276 exon3 c.3572+93T>C 0.189497 0.3085 Uncertain 19_54848512_C->T 19 54848512 54848512 C T snp 446.77 1/1 36 12 0 12 1.0 intronic rs56374127 LILRA4 AU NM_012276 exon3 c.3572+98C>T 0.195487 0.3056 Uncertain 19_54848684_G->A 19 54848684 54848684 G A snp 309.78 1/1 24 9 0 9 1.0 exonic rs8105624 LILRA4 AU synonymous SNV NM_012276 exon5 c.C939T p.D313D 0.196885 0.2609 0.182449 0.2034 0.2164 Uncertain 19_54848986_C->T 19 54848986 54848986 C T snp 295.77 0/1 99 25 14 11 0.44 intronic rs36068997 LILRA4 AU NM_012276 exon4 c.4125+19C>T 0.329673 0.255 0.313952 0.2894 0.2180 Uncertain 19_54849566_T->C 19 54849566 54849566 T C snp 1031.77 0/1 99 115 68 47 0.41 intronic rs2241385 LILRA4 AU NM_012276 exon5 c.4664+60T>C 0.405152 0.2639 Uncertain 19_54849942_G->A 19 54849942 54849942 G A snp 928.77 0/1 99 104 62 42 0.4 exonic rs2241384 LILRA4 AU nonsynonymous SNV NM_012276 exon3 c.C80T p.P27L 0.197684 0.2679 0.163155 0.1853 0.2210 0.1 T 0.0 P -1.035 T 0.048 T 0.063 T Pathogenic 19_54867071_G->A 19 54867071 54867071 G A snp 225.77 0/1 99 17 9 8 0.47 intronic LAIR1 AU NM_002287 exon1 c.147+48G>A 0.0199681 0.0248 0.000539 0.0071 0.0299 Uncertain 19_54872594_G->A 19 54872594 54872594 G A snp 1092.77 0/1 99 98 54 44 0.45 exonic LAIR1 AU nonsynonymous SNV NM_001289027 exon2 c.C239T p.P80L 0.0425319 0.0317 0.025834 0.0209 0.0336 0.33 T 1 N -0.976 T 0.0 T 0.0 T ID=COSM148742;OCCURENCE=1(stomach) Pathogenic 19_54872611_A->T 19 54872611 54872611 A T snp 1315.77 0/1 99 119 63 56 0.47 exonic LAIR1 AU nonsynonymous SNV NM_001289027 exon2 c.T222A p.S74R 0.0231629 0.0308 0.001000 0.0143 0.0335 0.08 T 1 N -1.029 T 0.721 T 0.414 P ID=COSM148743;OCCURENCE=1(stomach) Pathogenic 19_54872698_C->G 19 54872698 54872698 C G snp 2334.77 0/1 99 203 99 104 0.51 exonic LAIR1 AU nonsynonymous SNV NM_001289027 exon2 c.G135C p.E45D 0.0235623 0.0308 0.001153 0.0143 0.0335 0.15 T 1 N -1.058 T 0.328 T 0.268 T ID=COSM148744;OCCURENCE=1(stomach) Pathogenic 19_54872963_A->C 19 54872963 54872963 A C snp 93.28 1/1 9 3 0 3 1.0 intronic LAIR1 AU NM_002287 exon8 c.5940+147A>C 0.223043 0.2371 Uncertain 19_54875791_T->C 19 54875791 54875791 T C snp 203.77 0/1 94 13 4 9 0.69 intronic LAIR1 AU NM_002287 exon9 c.9025-110T>C 0.201478 0.2034 Uncertain 19_54875881_C->T 19 54875881 54875881 C T snp 476.77 0/1 99 51 27 24 0.47 intronic LAIR1 AU NM_002287 exon9 c.9025-20C>T 0.102835 0.0367 0.150085 0.1580 0.0369 Uncertain 19_54881780_G->A 19 54881780 54881780 G A snp 592.77 0/1 99 79 49 30 0.38 intronic LAIR1 AU NM_001289027 exon9 c.14992-88G>A 0.263179 0.4454 Uncertain 19_54881850_G->T 19 54881850 54881850 G T snp 3461.77 1/1 99 186 22 164 0.88 intronic LAIR1 AU NM_001289027 exon9 c.14992-18G>T 0.3380 0.2634 Uncertain 19_54882068_A->G 19 54882068 54882068 A G snp 55.77 0/1 84 20 13 7 0.35 UTR5 LAIR1 AU 0.40655 0.2778 Uncertain 19_54926182_G->A 19 54926182 54926182 G A snp 119.77 0/1 99 7 3 4 0.57 upstream TTYH1 AU 0.255591 0.376 Uncertain 19_54930822_A->G 19 54930822 54930822 A G snp 716.77 0/1 99 54 26 28 0.52 intronic TTYH1 AU NM_001201461 exon2 c.3754+342A>G 0.245008 0.1796 Uncertain 19_54971229_T->C 19 54971229 54971229 T C snp 732.77 0/1 99 49 22 27 0.55 intronic rs3745437 LENG8 AU NM_052925 exon16 c.9424-716T>C 0.864816 0.6339 Uncertain 19_55009497_A->C 19 55009497 55009497 A C snp 3076.77 1/1 99 159 18 141 0.89 intergenic CDC42EP5 AU 0.652556 0.6944 0.5789 0.6240 Uncertain 19_55043810_G->A 19 55043810 55043810 G A snp 346.77 0/1 88 15 4 11 0.73 upstream KIR3DX1 AU 0.493011 0.7798 Uncertain 19_55044229_TC->- 19 55044229 55044230 TC - indel 2677.73 1/1 99 68 0 68 1.0 ncRNA_intronic KIR3DX1 AU 0.763320 0.7628 0.8967 Uncertain 19_55044387_T->C 19 55044387 55044387 T C snp 378.77 0/1 99 34 15 19 0.56 ncRNA_intronic KIR3DX1 AU 0.511581 0.7798 Uncertain 19_55046739_C->A 19 55046739 55046739 C A snp 46.77 0/1 33 3 1 2 0.67 ncRNA_intronic KIR3DX1 AU 0.4998 0.7798 Uncertain 19_55048270_C->T 19 55048270 55048270 C T snp 2380.77 0/1 99 241 134 107 0.44 ncRNA_exonic KIR3DX1 AU 0.217053 0.1905 0.226542 0.2559 0.2136 Uncertain 19_55049058_A->G 19 55049058 55049058 A G snp 102.77 0/1 99 11 7 4 0.36 ncRNA_intronic KIR3DX1 AU 0.223442 0.2292 Uncertain 19_55049062_A->G 19 55049062 55049062 A G snp 234.77 0/1 99 11 4 7 0.64 ncRNA_intronic KIR3DX1 AU Uncertain 19_55049087_AA->- 19 55049087 55049088 AA - indel 1140.73 1/1 99 40 1 39 0.97 ncRNA_intronic KIR3DX1 AU Uncertain 19_55049088_-->AG 19 55049088 55049088 - AG indel 1877.73 1/1 99 42 1 41 0.98 ncRNA_intronic KIR3DX1 AU Uncertain 19_55049104_-->A 19 55049104 55049104 - A indel 734.73 0/1 99 53 28 25 0.47 ncRNA_intronic KIR3DX1 AU Uncertain 19_55049332_G->C 19 55049332 55049332 G C snp 869.77 0/1 99 56 23 33 0.59 ncRNA_intronic KIR3DX1 AU 0.171725 0.1885 Uncertain 19_55053911_G->C 19 55053911 55053911 G C snp 1087.77 1/1 81 30 0 30 1.0 ncRNA_intronic KIR3DX1 AU 0.615415 0.7768 Uncertain 19_55087711_A->G 19 55087711 55087711 A G snp 135.03 1/1 12 4 0 4 1.0 intronic LILRA2 AU NM_001290270 exon5 c.2231+135A>G 0.296526 0.2857 Uncertain 19_55098667_G->A 19 55098667 55098667 G A snp 3561.77 1/1 99 117 0 117 1.0 splicing LILRA2 AU NM_001290270 exon6 c.13322G>A 0.0964457 0.2698 0.016377 0.0577 0.3003 0.0 P Pathogenic 19_55105666_G->T 19 55105666 55105666 G T snp 1493.77 1/1 99 56 0 56 1.0 UTR5 LILRA1 AU 0.29353 0.2778 0.231509 0.1760 0.2998 Uncertain 19_55105673_C->T 19 55105673 55105673 C T snp 1574.77 1/1 99 58 0 58 1.0 UTR5 LILRA1 AU 0.29353 0.2778 0.226972 0.1758 0.2988 Uncertain 19_55105722_G->C 19 55105722 55105722 G C snp 1910.77 1/1 99 75 0 75 1.0 exonic LILRA1 AU nonsynonymous SNV NM_001278319 exon1 c.G13C p.V5L 0.284944 0.2778 0.127018 0.1343 0.2745 1 T 0.0 P -0.992 T 0.002 T 0.004 T Pathogenic 19_55105727_A->G 19 55105727 55105727 A G snp 1973.77 1/1 99 75 0 75 1.0 exonic LILRA1 AU synonymous SNV NM_001278319 exon1 c.A18G p.T6T 0.293331 0.2778 0.123481 0.1322 0.2715 Uncertain 19_55105743_A->G 19 55105743 55105743 A G snp 1911.77 1/1 99 77 2 75 0.97 exonic LILRA1 AU nonsynonymous SNV NM_001278319 exon1 c.A34G p.R12G 0.292931 0.2778 0.117561 0.0919 0.2316 1 T 0.0 P -0.990 T 0.0 T 0.0 T Pathogenic 19_55106317_A->G 19 55106317 55106317 A G snp 5350.77 1/1 99 192 0 192 1.0 exonic LILRA1 AU synonymous SNV NM_001278319 exon3 c.A258G p.P86P 0.291733 0.2718 0.235122 0.1773 0.2778 Uncertain 19_55106338_A->C 19 55106338 55106338 A C snp 4915.77 1/1 99 182 0 182 1.0 exonic LILRA1 AU synonymous SNV NM_001278319 exon3 c.A279C p.T93T 0.0954473 0.2639 0.016608 0.0544 0.2782 Uncertain 19_55106590_A->G 19 55106590 55106590 A G snp 5213.77 1/1 99 179 0 179 1.0 exonic LILRA1 AU synonymous SNV NM_001278319 exon4 c.A384G p.S128S 0.0950479 0.2698 0.013378 0.0540 0.3001 Uncertain 19_55106865_T->C 19 55106865 55106865 T C snp 1192.77 1/1 87 38 0 38 1.0 exonic LILRA1 AU nonsynonymous SNV NM_001278319 exon4 c.T659C p.L220P 0.298722 0.2798 0.214132 0.1798 0.3066 0.46 T 0.148 P -1.043 T 0.0 T 0.001 T Pathogenic 19_55107308_G->C 19 55107308 55107308 G C snp 1074.77 1/1 78 39 0 39 1.0 exonic LILRA1 AU nonsynonymous SNV NM_001278319 exon5 c.G866C p.R289P 0.291134 0.2758 0.1697 0.2837 0.38 T 0.0 P -0.914 T 0.001 T 0.007 T Pathogenic 19_55107313_T->C 19 55107313 55107313 T C snp 1006.77 1/1 72 35 0 35 1.0 exonic LILRA1 AU nonsynonymous SNV NM_001278319 exon5 c.T871C p.Y291H 0.291134 0.2758 0.1689 0.2823 1 T 0.0 P -0.990 T 0.0 T 0.002 T Pathogenic 19_55107336_C->T 19 55107336 55107336 C T snp 646.77 1/1 48 19 0 19 1.0 exonic LILRA1 AU synonymous SNV NM_001278319 exon5 c.C894T p.S298S 0.290735 0.2758 0.1549 0.2755 Uncertain 19_55107343_T->C 19 55107343 55107343 T C snp 554.77 1/1 42 16 0 16 1.0 exonic LILRA1 AU nonsynonymous SNV NM_001278319 exon5 c.T901C p.Y301H 0.179544 0.1548 0.2742 1 T 0.000 P -0.998 T 0.001 T 0.009 T Pathogenic 19_55112489_C->A 19 55112489 55112489 C A snp 207.77 0/1 99 15 8 7 0.47 UTR3 LILRA1 AU 0.477436 0.6101 Uncertain 19_55142101_G->A 19 55142101 55142101 G A snp 2192.77 0/1 99 166 77 89 0.54 intronic rs3760861 LILRB1 AU 0.45028 0.5982 0.3946 0.6000 Uncertain 19_55142861_C->G 19 55142861 55142861 C G snp 37.77 0/1 66 6 4 2 0.33 intronic rs1985500 LILRB1 AU NM_001081639 exon4 c.426-89C>G 0.535543 0.6111 Uncertain 19_55142930_C->T 19 55142930 55142930 C T snp 420.77 0/1 99 43 26 17 0.4 intronic rs3843752 LILRB1 AU NM_001081639 exon4 c.426-20C>T 0.45627 0.5982 0.395048 0.3915 0.6168 Uncertain 19_55143083_T->C 19 55143083 55143083 T C snp 2821.77 0/1 99 240 116 124 0.52 exonic rs1061679 LILRB1 AU nonsynonymous SNV NM_001081637 exon4 c.T203C p.L68P 0.468251 0.5982 0.409196 0.3925 0.6169 0.86 T 0.0 P -0.974 T 0.0 T 0.001 T Pathogenic 19_55143156_T->C 19 55143156 55143156 T C snp 2743.77 0/1 99 211 104 107 0.51 exonic rs12462774 LILRB1 AU synonymous SNV NM_001081637 exon4 c.T276C p.H92H 0.213858 0.505 0.057743 0.1880 0.5124 Uncertain 19_55143157_G->A 19 55143157 55143157 G A snp 2768.77 0/1 99 210 103 107 0.51 exonic rs12460501 LILRB1 AU nonsynonymous SNV NM_001081637 exon4 c.G277A p.A93T 0.213858 0.505 0.061510 0.1879 0.5123 0.12 T 0.0 P -0.915 T 0.967 D 0.792 D Pathogenic 19_55143452_T->C 19 55143452 55143452 T C snp 2099.77 0/1 99 192 100 92 0.48 exonic rs1061680 LILRB1 AU nonsynonymous SNV NM_001081637 exon5 c.T425C p.I142T 0.4373 0.5942 0.372674 0.3550 0.6144 1 T 0.0 P -1.052 T 0.0 T 0.001 T Pathogenic 19_55143491_G->T 19 55143491 55143491 G T snp 2238.77 0/1 99 206 106 100 0.49 exonic rs1061681 LILRB1 AU nonsynonymous SNV NM_001081637 exon5 c.G464T p.S155I 0.45008 0.5952 0.405351 0.3929 0.6134 1 T 0.0 P -0.903 T 0.001 T 0.0 T Pathogenic 19_55144453_CTT->- 19 55144453 55144455 CTT - indel 3772.73 0/1 99 145 71 74 0.51 intronic rs201953632 LILRB1 AU NM_001081639 exon7 c.1942-13_1942-11delCTT 0.00279553 0.0109 0.0008 0.0092 Uncertain 19_55145453_C->T 19 55145453 55145453 C T snp 125.77 0/1 99 40 32 8 0.2 exonic rs370595875 LILRB1 AU synonymous SNV NM_001278398 exon8 c.C1293T p.T431T 0.00339457 0.005008 0.0030 0.0015 Uncertain 19_55175058_C->A 19 55175058 55175058 C A snp 89.77 0/1 99 31 23 8 0.26 intronic rs201511126 LILRB4 AU NM_001278430 exon2 c.540+33C>A 0.0004 0.0003 Uncertain 19_55175063_C->T 19 55175063 55175063 C T snp 89.77 0/1 99 30 23 7 0.23 intronic rs202203906 LILRB4 AU NM_001278430 exon2 c.540+38C>T 0.0004 0.0003 Uncertain 19_55175082_C->A 19 55175082 55175082 C A snp 80.77 0/1 99 26 19 7 0.27 intronic rs200867776 LILRB4 AU NM_001278430 exon2 c.540+57C>A Uncertain 19_55175596_-->GTGGGAG 19 55175596 55175596 - GTGGGAG indel 5384.73 0/1 99 155 91 64 0.41 intronic rs111643703 LILRB4 AU NM_001278429 exon3 c.1274-40insGTGGGAG 0.861621 0.9236 0.8245 0.9238 Uncertain 19_55176535_C->T 19 55176535 55176535 C T snp 550.77 0/1 99 32 12 20 0.63 intronic rs1925241 LILRB4 AU NM_001278429 exon5 c.2218-45C>T 0.444888 0.5605 0.415270 0.4368 0.5819 Uncertain 19_55177929_G->A 19 55177929 55177929 G A snp 1641.77 1/1 99 45 0 45 1.0 intronic rs760186 LILRB4 AU NM_001278429 exon8 c.3525+42G>A 0.241214 0.4425 0.127557 0.1276 0.4569 Uncertain 19_55178035_A->G 19 55178035 55178035 A G snp 2061.77 0/1 99 157 68 89 0.57 intronic rs1749317 LILRB4 AU NM_001278429 exon9 c.3782-109A>G 0.238019 0.245 Uncertain 19_55178162_A->G 19 55178162 55178162 A G snp 1594.77 0/1 99 143 68 75 0.52 exonic rs11574576 LILRB4 AU nonsynonymous SNV NM_001278429 exon9 c.A1093G p.N365D 0.448682 0.5615 0.322928 0.3764 0.5743 1 T 0.0 P -1.016 T 0.0 T 0.001 T Pathogenic 19_55179364_A->G 19 55179364 55179364 A G snp 1541.77 0/1 99 100 42 58 0.58 exonic rs1048801 LILRB4 AU nonsynonymous SNV NM_001278429 exon11 c.A1331G p.Q444R 0.376997 0.3155 0.398431 0.3717 0.2968 0.08 T 0.0 P -0.922 T 0.995 D 0.801 D Pathogenic 19_55236800_T->C 19 55236800 55236800 T C snp 2343.77 1/1 99 89 0 89 1.0 intronic KIR3DL3 AU NM_153443 exon2 c.747+52T>C 0.48722 0.626 0.2036 0.2563 Uncertain 19_55237433_G->A 19 55237433 55237433 G A snp 509.77 1/1 39 13 0 13 1.0 intronic KIR3DL3 AU NM_153443 exon3 c.1517-85G>A 0.258786 0.6409 Uncertain 19_55237499_A->G 19 55237499 55237499 A G snp 2366.77 1/1 99 79 0 79 1.0 intronic KIR3DL3 AU NM_153443 exon3 c.1517-19A>G 0.7188 0.5 Uncertain 19_55237616_C->T 19 55237616 55237616 C T snp 6081.77 1/1 99 224 2 222 0.99 exonic KIR3DL3 AU synonymous SNV NM_153443 exon3 c.C168T p.N56N 0.562101 0.6766 0.7195 0.675 Uncertain 19_55237677_C->T 19 55237677 55237677 C T snp 6650.77 1/1 99 247 0 247 1.0 exonic KIR3DL3 AU nonsynonymous SNV NM_153443 exon3 c.C229T p.R77W 0.195887 0.6409 0.2783 0.7391 0.14 T 0.0 P -1.007 T 0.001 T 0.004 T Pathogenic 19_55237899_A->C 19 55237899 55237899 A C snp 298.78 1/1 24 8 0 8 1.0 intronic KIR3DL3 AU NM_153443 exon3 c.1802+96A>C 0.626997 0.7103 Uncertain 19_55239223_G->A 19 55239223 55239223 G A snp 7560.77 1/1 99 250 1 249 1.0 exonic KIR3DL3 AU nonsynonymous SNV NM_153443 exon4 c.G502A p.V168I 0.15 T 1 N -0.943 T 0.001 T 0.003 T Pathogenic 19_55246739_C->T 19 55246739 55246739 C T snp 4406.77 1/1 99 163 0 163 1.0 exonic KIR3DL3 AU synonymous SNV NM_153443 exon6 c.C969T p.H323H 0.153554 0.3958 0.028272 0.1168 0.4321 Uncertain 19_55281187_C->T 19 55281187 55281187 C T snp 123.77 0/1 99 12 5 7 0.58 ncRNA_exonic LOC101928804 AU 0.000998403 0.005 Uncertain 19_55281368_T->C 19 55281368 55281368 T C snp 88.77 0/1 99 81 68 13 0.16 ncRNA_intronic rs4806554 LOC101928804 AU 0.157947 0.0437 0.119798 0.1601 0.0405 Uncertain 19_55281370_A->T 19 55281370 55281370 A T snp 102.77 0/1 99 80 67 13 0.16 ncRNA_intronic LOC101928804 AU 8.534e-06 0 Uncertain 19_55281405_A->G 19 55281405 55281405 A G snp 175.77 0/1 99 71 58 13 0.18 ncRNA_intronic LOC101928804 AU Uncertain 19_55281458_T->G 19 55281458 55281458 T G snp 226.77 0/1 99 41 27 14 0.34 ncRNA_intronic LOC101928804 AU Uncertain 19_55281461_A->C 19 55281461 55281461 A C snp 216.77 0/1 99 39 26 13 0.33 ncRNA_intronic LOC101928804 AU Uncertain 19_55281483_G->T 19 55281483 55281483 G T snp 73.77 0/1 99 31 25 6 0.19 ncRNA_intronic LOC101928804 AU 0.0071885 0.002 Uncertain 19_55281504_G->C 19 55281504 55281504 G C snp 148.77 0/1 99 18 12 6 0.33 ncRNA_intronic LOC101928804 AU Uncertain 19_55294484_T->C 19 55294484 55294484 T C snp 3539.77 1/1 99 107 0 107 1.0 intronic KIR2DL1 AU NM_014218 exon6 c.13173+9T>C 0.9631 0.9907 Uncertain 19_55309366_C->T 19 55309366 55309366 C T snp 1361.77 0/1 99 97 41 56 0.58 intergenic KIR2DL1 AU Uncertain 19_55315440_A->G 19 55315440 55315440 A G snp 1833.77 1/1 99 67 0 67 1.0 intergenic KIR2DL1 AU 0.798722 0.9405 Uncertain 19_55316329_A->G 19 55316329 55316329 A G snp 3120.77 0/1 99 249 130 119 0.48 intergenic KIR2DL1 AU 0.07 T 1 N -1.071 T 0.99 D 0.85 D Uncertain 19_55317439_C->T 19 55317439 55317439 C T snp 1940.77 0/1 99 153 76 77 0.5 intergenic KIR2DL1 AU 0.0541134 0.0942 0.034526 0.0998 0.1795 0.04 T 0.0 P -1.042 T 0.88 T 0.486 P Uncertain 19_55320279_G->A 19 55320279 55320279 G A snp 1608.77 1/1 99 50 0 50 1.0 intergenic KIR2DL1 AU 0 0 Uncertain 19_55320481_C->G 19 55320481 55320481 C G snp 994.77 0/1 99 92 48 44 0.48 intergenic KIR2DL1 AU 0.0519169 0.1022 Uncertain 19_55324474_T->C 19 55324474 55324474 T C snp 446.77 0/1 99 43 24 19 0.44 intergenic KIR2DL1 AU 0.417931 0.6131 Uncertain 19_55324566_C->T 19 55324566 55324566 C T snp 1369.77 0/1 99 169 101 68 0.4 intergenic KIR2DL1 AU 0.414736 0.6121 0.0069 0.0093 Uncertain 19_55324635_T->C 19 55324635 55324635 T C snp 1464.77 0/1 99 160 92 68 0.42 intergenic KIR2DL1 AU 0.590655 0.8056 0.0188 0.0370 Uncertain 19_55324674_-->A 19 55324674 55324674 - A indel 842.73 0/1 99 105 48 57 0.54 intergenic KIR2DL1 AU Uncertain 19_55325240_G->C 19 55325240 55325240 G C snp 2225.77 0/1 99 168 80 88 0.52 intergenic KIR2DL1 AU Uncertain 19_55325241_A->T 19 55325241 55325241 A T snp 2222.77 0/1 99 169 81 88 0.52 intergenic KIR2DL1 AU Uncertain 19_55327891_A->G 19 55327891 55327891 A G snp 499.77 0/1 99 21 5 16 0.76 upstream KIR3DL1 AU 0.159145 0.2361 ID=CR087573;DIS=Altered promoter activity;TAG=FP;PUB=18358829 FP Uncertain 19_55327930_A->G 19 55327930 55327930 A G snp 525.77 0/1 99 54 34 20 0.37 UTR5 KIR3DL1 AU 0.373203 0.6121 0.0003 0 ID=CR087574;DIS=Altered promoter activity;TAG=FP;PUB=19008943 FP Uncertain 19_55327960_C->T 19 55327960 55327960 C T snp 750.77 0/1 99 72 43 29 0.4 exonic KIR3DL1 AU nonsynonymous SNV NM_013289 exon1 c.C5T p.S2L 0.365216 0.6002 0.0001 0 0.21 T 0.873 P -0.817 T 0.99 D 0.947 D Pathogenic 19_55328023_C->A 19 55328023 55328023 C A snp 1132.77 0/1 99 97 47 50 0.52 intronic KIR3DL1 AU NM_013289 exon1 c.34+34C>A 0.160343 0.2381 0.3345 0.7152 Uncertain 19_55328084_A->G 19 55328084 55328084 A G snp 790.77 0/1 99 59 28 31 0.53 intronic KIR3DL1 AU NM_013289 exon1 c.34+95A>G 0.351637 0.5565 Uncertain 19_55328125_A->G 19 55328125 55328125 A G snp 418.77 0/1 99 35 17 18 0.51 intronic KIR3DL1 AU NM_013289 exon1 c.34+136A>G 0.023762 0.0615 Uncertain 19_55328820_C->G 19 55328820 55328820 C G snp 267.77 0/1 99 25 15 10 0.4 intronic KIR3DL1 AU NM_013289 exon2 c.1033-168C>G 0.00539137 0.0268 Uncertain 19_55328959_G->T 19 55328959 55328959 G T snp 6353.77 1/1 99 245 0 245 1.0 intronic KIR3DL1 AU NM_013289 exon2 c.1033-29G>T 0.2621 0.8919 Uncertain 19_55328973_T->G 19 55328973 55328973 T G snp 2055.77 0/1 99 249 151 98 0.39 intronic KIR3DL1 AU NM_013289 exon2 c.1033-15T>G 0.0932508 0.0962 0.049537 0.0089 0.0462 Uncertain 19_55328993_G->C 19 55328993 55328993 G C snp 1928.77 0/1 99 237 147 90 0.38 exonic KIR3DL1 AU nonsynonymous SNV NM_013289 exon2 c.G39C p.L13F 0.398219 0.1833 0.5878 1 T 0.0 P -1.029 T 0.001 T 0.001 T Pathogenic 19_55329021_A->G 19 55329021 55329021 A G snp 1542.77 0/1 99 197 124 73 0.37 exonic KIR3DL1 AU nonsynonymous SNV NM_013289 exon2 c.A67G p.M23V 0.380424 0.2774 0.6656 0.65 T 0.0 P -1.063 T 0.015 T 0.01 T Pathogenic 19_55329117_C->A 19 55329117 55329117 C A snp 332.77 0/1 99 36 23 13 0.36 intronic KIR3DL1 AU NM_013289 exon2 c.1069+93C>A 0.542332 0.7421 Uncertain 19_55329783_A->G 19 55329783 55329783 A G snp 2165.77 0/1 99 157 75 82 0.52 exonic KIR3DL1 AU synonymous SNV NM_013289 exon3 c.A84G p.K28K 0.545327 0.753 0.0533 0.2089 Uncertain 19_55329901_A->G 19 55329901 55329901 A G snp 3513.77 0/1 99 250 124 126 0.5 exonic KIR3DL1 AU nonsynonymous SNV NM_013289 exon3 c.A202G p.I68V 0.590256 0.7679 0.313039 0.3232 0.6252 1 T 0.0 P -1.024 T 0.0 T 0.0 T Pathogenic 19_55329922_A->T 19 55329922 55329922 A T snp 3531.77 0/1 99 250 123 127 0.51 exonic KIR3DL1 AU nonsynonymous SNV NM_013289 exon3 c.A223T p.I75L 0.591054 0.7679 0.455513 0.4489 0.7303 0.1 T 0.0 P -0.899 T 0.057 T 0.757 T Pathogenic 19_55331419_C->T 19 55331419 55331419 C T snp 1822.77 0/1 99 243 163 80 0.33 exonic KIR3DL1 AU nonsynonymous SNV NM_013289 exon4 c.C607T p.P203S 0.223243 0.1617 0.315116 0.3282 0.1787 0.04 T 0.0 P -1.004 T 0.827 T 0.287 P Pathogenic 19_55331574_T->C 19 55331574 55331574 T C snp 140.77 0/1 99 14 9 5 0.36 intronic KIR3DL1 AU NM_013289 exon4 c.3512+107T>C 0.238419 0.1617 Uncertain 19_55333246_C->T 19 55333246 55333246 C T snp 2152.77 0/1 99 248 152 96 0.39 exonic KIR3DL1 AU synonymous SNV NM_013289 exon5 c.C882T p.F294F 0.237819 0.1617 0.247403 0.4216 0.2905 Uncertain 19_55333275_G->T 19 55333275 55333275 G T snp 2576.77 0/1 99 250 140 110 0.44 exonic KIR3DL1 AU nonsynonymous SNV NM_013289 exon5 c.G911T p.W304L 0.238419 0.1617 0.225917 0.3867 0.2778 0.06 T 0.0 P -0.781 T 1.0 D 0.998 D ID=CM141638;DIS=Altered HLA reactivity and peptide permissiveness;TAG=FP;PUB=24563253 FP Pathogenic 19_55336624_G->T 19 55336624 55336624 G T snp 413.96 1/1 5 65 36 29 0.45 intronic KIR3DL1 AU NM_013289 exon6 c.8578+91G>T 0.0644968 0.1091 Uncertain 19_55340773_A->T 19 55340773 55340773 A T snp 1151.77 0/1 99 65 26 39 0.6 intronic KIR3DL1 AU NM_013289 exon7 c.12860-42A>T 0.170128 0.1101 0.227042 0.2119 0.1068 Uncertain 19_55340836_A->G 19 55340836 55340836 A G snp 1893.77 0/1 99 137 60 77 0.56 exonic KIR3DL1 AU nonsynonymous SNV NM_013289 exon7 c.A1021G p.I341V 0.175719 0.1141 0.130198 0.1982 0.1067 1 T 0.0 P -1.044 T 0.0 T 0.001 T Pathogenic 19_55340933_G->C 19 55340933 55340933 G C snp 3171.77 1/1 99 102 0 102 1.0 intronic KIR3DL1 AU NM_013289 exon7 c.12965+13G>C 0.319489 0.2827 0.385549 0.3856 0.2948 Uncertain 19_55341027_A->G 19 55341027 55341027 A G snp 244.77 0/1 99 21 11 10 0.48 intronic KIR3DL1 AU NM_013289 exon7 c.12965+107A>G 0.169529 0.1111 Uncertain 19_55341031_G->C 19 55341031 55341031 G C snp 211.77 0/1 99 21 12 9 0.43 intronic KIR3DL1 AU NM_013289 exon7 c.12965+111G>C 0.169728 0.1111 Uncertain 19_55341575_G->C 19 55341575 55341575 G C snp 1688.77 0/1 99 166 99 67 0.4 exonic KIR3DL1 AU nonsynonymous SNV NM_013289 exon9 c.G1180C p.E394Q 0.176518 0.1111 0.232086 0.2156 0.1062 1 T 0.0 P -1.011 T 0.0 T 0.0 T Pathogenic 19_55341589_C->T 19 55341589 55341589 C T snp 1998.77 0/1 99 204 121 83 0.41 exonic KIR3DL1 AU synonymous SNV NM_013289 exon9 c.C1194T p.Y398Y 0.0646965 0.1101 0.051096 0.0508 0.1039 Uncertain 19_55341753_A->G 19 55341753 55341753 A G snp 5888.77 1/1 99 211 0 211 1.0 UTR3 KIR3DL1 AU 0.312899 0.2808 0.385757 0.3848 0.2869 Uncertain 19_55341840_T->G 19 55341840 55341840 T G snp 516.77 0/1 99 34 17 17 0.5 UTR3 KIR3DL1 AU 0.0213658 0.1012 ID=COSN165960;OCCURENCE=1(breast) Uncertain 19_55344381_G->T 19 55344381 55344381 G T snp 180.9 1/1 15 6 1 5 0.83 intronic KIR2DS4 AU NM_001281971 exon1 c.34+128G>T 0.0609026 0.1081 Uncertain 19_55344382_A->G 19 55344382 55344382 A G snp 182.9 1/1 15 6 0 6 1.0 intronic KIR2DS4 AU NM_001281971 exon1 c.34+129A>G 0.326677 0.2917 Uncertain 19_55346409_T->A 19 55346409 55346409 T A snp 1519.77 1/1 99 53 0 53 1.0 intronic KIR2DS4 AU NM_001281971 exon2 c.2314-124T>A 0.790335 0.9306 Uncertain 19_55346631_G->A 19 55346631 55346631 G A snp 251.77 0/1 99 22 11 11 0.5 intronic KIR2DS4 AU NM_001281971 exon2 c.2350+62G>A 0.0644968 0.1081 0.046088 Uncertain 19_55346658_C->T 19 55346658 55346658 C T snp 140.77 0/1 99 9 4 5 0.56 intronic KIR2DS4 AU NM_001281971 exon2 c.2350+89C>T 0.122804 0.1667 Uncertain 19_55349031_G->A 19 55349031 55349031 G A snp 385.77 0/1 99 27 14 13 0.48 exonic KIR2DS4 AU nonsynonymous SNV NM_001281971 exon3 c.G71A p.G24E 0.123602 0.1657 0.142462 0.1695 0.1801 Pathogenic 19_55349264_G->A 19 55349264 55349264 G A snp 2322.77 0/1 99 197 101 96 0.49 exonic KIR2DS4 AU nonsynonymous SNV NM_001281971 exon3 c.G304A p.G102S 0.0523163 0.0823 0.047985 0.0502 0.1052 Pathogenic 19_55349273_C->A 19 55349273 55349273 C A snp 2460.77 0/1 99 180 86 94 0.52 exonic KIR2DS4 AU nonsynonymous SNV NM_001281971 exon3 c.C313A p.P105T 0.123403 0.1657 0.141771 0.1666 0.1802 Pathogenic 19_55349347_A->T 19 55349347 55349347 A T snp 648.77 0/1 99 47 24 23 0.49 intronic KIR2DS4 AU NM_001281971 exon3 c.5111+17A>T 0.0648962 0.1081 0.050458 0.0508 0.1041 Uncertain 19_55350948_A->T 19 55350948 55350948 A T snp 1403.77 0/1 99 166 109 57 0.34 exonic KIR2DS4 AU nonsynonymous SNV NM_001281971 exon4 c.A436T p.T146S 0.0625 0.1091 0.048985 0.0642 0.1979 Pathogenic 19_55350979_A->G 19 55350979 55350979 A G snp 1737.77 0/1 99 184 117 67 0.36 exonic KIR2DS4 AU nonsynonymous SNV NM_001281971 exon4 c.A467G p.K156R 0.178514 0.1131 0.236426 0.2202 0.1109 Pathogenic 19_55351022_A->C 19 55351022 55351022 A C snp 2084.77 0/1 99 218 134 84 0.39 exonic rs4806591 KIR2DS4 AU synonymous SNV NM_001281971 exon4 c.A510C p.S170S 0.0656949 0.1091 0.051430 0.0508 0.1057 Uncertain 19_55351289_C->T 19 55351289 55351289 C T snp 83.77 0/1 30 4 1 3 0.75 intronic KIR2DS4 AU NM_001281971 exon4 c.6935+135C>T 0.0615016 0.1081 Uncertain 19_55359272_C->G 19 55359272 55359272 C G snp 3434.77 1/1 99 116 0 116 1.0 intronic KIR2DS4 AU NM_001281971 exon7 c.15039+14C>G Uncertain 19_55359436_G->C 19 55359436 55359436 G C snp 3245.77 0/1 99 224 99 125 0.56 UTR3 KIR2DS4 AU Uncertain 19_55359444_G->C 19 55359444 55359444 G C snp 3043.77 0/1 99 217 97 120 0.55 UTR3 KIR2DS4 AU Uncertain 19_55361879_T->C 19 55361879 55361879 T C snp 462.77 0/1 99 34 18 16 0.47 upstream KIR3DL2 AU Uncertain 19_55361942_G->T 19 55361942 55361942 G T snp 1865.77 1/1 99 71 0 71 1.0 exonic KIR3DL2 AU synonymous SNV NM_006737 exon1 c.G12T p.T4T 0.295128 0.6379 0 0 Uncertain 19_55362719_G->T 19 55362719 55362719 G T snp 1621.77 1/1 99 56 0 56 1.0 intronic KIR3DL2 AU NM_006737 exon2 c.780+9G>T 0.373203 0.6915 0.0043 0.0260 Uncertain 19_55362859_T->C 19 55362859 55362859 T C snp 99.28 1/1 9 3 0 3 1.0 intronic KIR3DL2 AU NM_006737 exon2 c.780+149T>C 0.36901 0.6885 Uncertain 19_55363368_C->T 19 55363368 55363368 C T snp 292.77 0/1 99 17 8 9 0.53 intronic KIR3DL2 AU NM_006737 exon3 c.1522-84C>T Uncertain 19_55363407_T->C 19 55363407 55363407 T C snp 850.77 0/1 99 53 25 28 0.53 intronic KIR3DL2 AU NM_006737 exon3 c.1522-45T>C 0.13778 0.0823 0.0239 0.0101 Uncertain 19_55363504_G->A 19 55363504 55363504 G A snp 3164.77 0/1 99 244 117 127 0.52 exonic KIR3DL2 AU nonsynonymous SNV NM_006737 exon3 c.G122A p.R41Q 0.0585064 0.1052 0.0903 0.1528 1 T 0.0 P -0.959 T 0.798 T 0.133 P ID=CM1111040;DIS=Preeclampsia, reduced risk, association with;TAG=DP;PUB=21406041 DP Pathogenic 19_55365240_C->A 19 55365240 55365240 C A snp 1602.77 0/1 99 124 62 62 0.5 exonic KIR3DL2 AU nonsynonymous SNV NM_006737 exon4 c.C394A p.P132T 0.0539137 0.0903 0.0767 0.1875 0.01 T 1 N -1.062 T 0.469 P 0.22 P Pathogenic 19_55365527_A->G 19 55365527 55365527 A G snp 727.77 0/1 99 48 24 24 0.5 intronic KIR3DL2 AU NM_006737 exon4 c.3571+26A>G 0.0533147 0.0893 0.033811 0.0484 0.0924 Uncertain 19_55377080_T->C 19 55377080 55377080 T C snp 141.03 1/1 12 4 0 4 1.0 intronic KIR3DL2 AU NM_006737 exon7 c.15329-179T>C 0.0513179 0.0883 Uncertain 19_55377081_G->A 19 55377081 55377081 G A snp 139.03 1/1 12 4 0 4 1.0 intronic KIR3DL2 AU NM_006737 exon7 c.15329-178G>A 0.0511182 0.0883 Uncertain 19_55377211_A->G 19 55377211 55377211 A G snp 1424.77 0/1 99 122 58 64 0.52 intronic KIR3DL2 AU NM_006737 exon7 c.15329-48A>G 0.0511182 0.0883 0.041442 0.0410 0.0837 Uncertain 19_55377403_A->G 19 55377403 55377403 A G snp 256.77 0/1 99 32 22 10 0.31 intronic KIR3DL2 AU NM_006737 exon7 c.15434+39A>G 0.0511182 0.0883 0.041301 0.0430 0.0867 Uncertain 19_55377430_G->A 19 55377430 55377430 G A snp 37.77 0/1 66 6 4 2 0.33 intronic KIR3DL2 AU NM_006737 exon7 c.15434+66G>A 0.0511182 0.0883 Uncertain 19_55377813_C->T 19 55377813 55377813 C T snp 667.77 0/1 99 56 28 28 0.5 intronic KIR3DL2 AU NM_006737 exon8 c.15894-11C>T 0.0511182 0.0883 0.041750 0.0411 0.0840 Uncertain 19_55378008_C->T 19 55378008 55378008 C T snp 2269.77 0/1 99 203 111 92 0.45 exonic KIR3DL2 AU nonsynonymous SNV NM_006737 exon9 c.C1190T p.T397M 0.261981 0.2778 0.241658 0.3114 0.2840 0.03 T 0.0 P -0.897 T 0.995 D 0.88 D ID=CM1111041;DIS=Preeclampsia, increased risk, association with;TAG=DP;PUB=21406041 DP Pathogenic 19_55378083_T->C 19 55378083 55378083 T C snp 3884.77 0/1 99 250 103 147 0.59 exonic KIR3DL2 AU nonsynonymous SNV NM_006737 exon9 c.T1265C p.L422P 0.0513179 0.0883 0.041673 0.0411 0.0842 1 T 1 N -0.958 T 0.0 T 0.002 T Pathogenic 19_55378223_A->C 19 55378223 55378223 A C snp 1214.77 0/1 99 105 60 45 0.43 UTR3 KIR3DL2 AU 0.0511182 0.0883 0.040750 0.0408 0.0841 Uncertain 19_55378227_A->C 19 55378227 55378227 A C snp 1149.77 0/1 99 98 56 42 0.43 UTR3 KIR3DL2 AU 0.0511182 0.0883 0.024143 0.0408 0.0841 Uncertain 19_55378255_A->G 19 55378255 55378255 A G snp 621.77 0/1 99 60 37 23 0.38 UTR3 KIR3DL2 AU 0.0511182 0.0883 Uncertain 19_55378263_G->T 19 55378263 55378263 G T snp 421.77 0/1 99 48 33 15 0.31 UTR3 KIR3DL2 AU 0.0511182 0.0883 Uncertain 19_55378274_G->C 19 55378274 55378274 G C snp 216.77 0/1 99 31 23 8 0.26 UTR3 KIR3DL2 AU 0.0511182 0.0883 Uncertain 19_55378277_C->T 19 55378277 55378277 C T snp 224.77 0/1 99 29 21 8 0.28 UTR3 KIR3DL2 AU 0.0511182 0.0883 Uncertain 19_55385962_C->G 19 55385962 55385962 C G snp 97.77 0/1 99 23 17 6 0.26 intronic FCAR AU NM_133279 exon1 c.34+183C>G 0.0593051 0.1567 Uncertain 19_55386645_C->T 19 55386645 55386645 C T snp 161.77 0/1 99 9 3 6 0.67 intronic FCAR AU NM_133279 exon2 c.1040-140C>T 0.0503195 0.0843 Uncertain 19_55386858_C->G 19 55386858 55386858 C G snp 305.77 0/1 99 49 33 16 0.33 intronic FCAR AU NM_133279 exon2 c.1076+37C>G 0.0503195 0.0843 0.040904 0.0402 0.0787 Uncertain 19_55386890_A->G 19 55386890 55386890 A G snp 1131.77 1/1 47 44 1 43 0.98 intronic FCAR AU NM_133279 exon2 c.1076+69A>G 0.678714 0.9226 0.603373 Uncertain 19_55386920_A->G 19 55386920 55386920 A G snp 891.03 0/1 12 37 3 34 0.92 intronic FCAR AU NM_133279 exon2 c.1076+99A>G 0.441693 0.369 Uncertain 19_55396900_A->G 19 55396900 55396900 A G snp 1008.77 0/1 99 87 44 43 0.49 exonic FCAR AU synonymous SNV NM_002000 exon3 c.A324G p.R108R 0.739417 0.7341 0.774873 0.6949 0.7395 ID=CM044227;DIS=Aggressive periodontitis, reduced risk, assoc with;TAG=DP;PUB=15140034 DP Uncertain 19_55399311_G->T 19 55399311 55399311 G T snp 124.77 0/1 66 8 2 6 0.75 intronic FCAR AU NM_133279 exon4 c.13628-62G>T 0.527356 0.5813 Uncertain 19_55399314_G->T 19 55399314 55399314 G T snp 85.77 0/1 69 8 2 6 0.75 intronic FCAR AU NM_133279 exon4 c.13628-59G>T 0.109026 0.1319 Uncertain 19_55399643_T->C 19 55399643 55399643 T C snp 1603.77 0/1 99 194 124 70 0.36 exonic FCAR AU synonymous SNV NM_002000 exon4 c.T631C p.L211L 0.0419329 0.0873 0.042442 0.0418 0.0883 Uncertain 19_55399684_C->T 19 55399684 55399684 C T snp 1078.77 0/1 99 129 83 46 0.36 intronic FCAR AU NM_002000 exon4 c.13916+23C>T 0.0415335 0.0863 0.042365 0.0481 0.1004 Uncertain 19_55400971_G->A 19 55400971 55400971 G A snp 930.77 0/1 99 65 25 40 0.62 intronic FCAR AU NM_002000 exon5 c.15269-43G>A 0.0854633 0.1012 0.068276 0.0684 0.0996 Uncertain 19_55417469_A->G 19 55417469 55417469 A G snp 278.77 0/1 99 27 16 11 0.41 upstream NCR1 AU 0.0623003 0.0992 0.042269 Uncertain 19_55417731_G->A 19 55417731 55417731 G A snp 622.77 0/1 99 43 18 25 0.58 intronic NCR1 AU NM_004829 exon2 c.147+39G>A 0.180112 0.371 0.071198 0.1373 0.3855 Uncertain 19_55418054_A->C 19 55418054 55418054 A C snp 1823.77 0/1 99 162 83 79 0.49 exonic NCR1 AU nonsynonymous SNV NM_001145457 exon3 c.A244C p.K82Q 0.176717 0.37 0.065662 0.1328 0.3845 0.51 T 0.0 P -0.923 T 0.212 T 0.102 T Pathogenic 19_55420801_C->A 19 55420801 55420801 C A snp 7373.77 1/1 99 250 0 250 1.0 exonic NCR1 AU synonymous SNV NM_001242356 exon3 c.C268A p.R90R 0.483227 0.5268 0.363063 0.3390 0.5267 Uncertain 19_55420924_C->G 19 55420924 55420924 C G snp 1621.77 0/1 99 139 77 62 0.45 intronic NCR1 AU NM_004829 exon4 c.3337+42C>G 0.415535 0.4315 0.299257 0.2733 0.4367 Uncertain 19_55423488_T->C 19 55423488 55423488 T C snp 2928.77 1/1 99 106 0 106 1.0 intronic NCR1 AU NM_004829 exon6 c.5990-47T>C 0.407149 0.5268 0.261648 0.2707 0.5255 Uncertain 19_55423530_C->T 19 55423530 55423530 C T snp 3897.77 1/1 99 147 0 147 1.0 splicing NCR1 AU NM_004829 exon6 c.5990-5C>T 0.391773 0.5268 0.251269 0.2516 0.5242 Pathogenic 19_55424204_GAA->- 19 55424204 55424206 GAA - indel 4324.73 0/1 99 125 47 78 0.62 exonic NCR1 AU nonframeshift deletion NM_001242357 exon5 c.544_546del p.182_182del 0.0283546 0.0923 0.001278 0.0199 0.0789 Uncertain 19_55424255_-->A 19 55424255 55424255 - A indel 1173.73 0/1 99 108 68 40 0.37 UTR3 NCR1 AU 0.116613 0.3502 0.006150 0.0664 0.3647 Uncertain 19_55424303_G->A 19 55424303 55424303 G A snp 991.77 0/1 99 60 22 38 0.63 UTR3 NCR1 AU 0.0247604 0.0764 Uncertain 19_55435268_C->- 19 55435268 55435268 C - indel 2542.73 0/1 99 143 69 74 0.52 intronic NLRP7 AR NM_139176 exon1 c.133+28delC 0.157548 0.3234 0.098802 0.1169 0.3070 Uncertain 19_55438831_G->T 19 55438831 55438831 G T snp 80.28 1/1 9 4 0 4 1.0 intronic rs269931 NLRP7 AR NM_139176 exon2 c.3865-141G>T 0.591853 0.7014 CLINSIG=untested;CLNDBN=Hydatidiform_mole;CLNREVSTAT=no_assertion_provided;CLNACC=RCV000084046.1;CLNDSDB=MedGen:OMIM:Orphanet:Orphanet;CLNDSDBID=C2931618:231090:ORPHA254688:ORPHA99927 Uncertain 19_55438850_A->G 19 55438850 55438850 A G snp 214.84 1/1 18 6 0 6 1.0 intronic rs269932 NLRP7 AR NM_139176 exon2 c.3865-122A>G 0.592652 0.7014 CLINSIG=untested;CLNDBN=Hydatidiform_mole;CLNREVSTAT=no_assertion_provided;CLNACC=RCV000084045.1;CLNDSDB=MedGen:OMIM:Orphanet:Orphanet;CLNDSDBID=C2931618:231090:ORPHA254688:ORPHA99927 Uncertain 19_55438941_AAAC->- 19 55438941 55438944 AAAC - indel 4042.73 1/1 99 66 0 66 1.0 intronic rs104895515 NLRP7 AR NM_139176 exon2 c.3865-31_3865-28delAAAC 0.591254 0.7004 0.545375 0.5819 0.7144 CLINSIG=untested;CLNDBN=Hydatidiform_mole;CLNREVSTAT=no_assertion_provided;CLNACC=RCV000084047.1;CLNDSDB=MedGen:OMIM:Orphanet:Orphanet;CLNDSDBID=C2931618:231090:ORPHA254688:ORPHA99927 Uncertain 19_55439166_T->C 19 55439166 55439166 T C snp 1574.77 1/1 99 47 0 47 1.0 intronic NLRP7 AR NM_139176 exon2 c.4036+23T>C 0.592652 0.7004 0.546363 0.5813 0.7122 Uncertain 19_55439197_A->C 19 55439197 55439197 A C snp 884.77 1/1 66 23 0 23 1.0 intronic NLRP7 AR NM_139176 exon2 c.4036+54A>C 0.592652 0.7004 Uncertain 19_55441741_A->G 19 55441741 55441741 A G snp 139.03 1/1 12 4 0 4 1.0 intronic rs647844 NLRP7 AR NM_139176 exon3 c.6759-125A>G 0.590056 0.6994 CLINSIG=untested;CLNDBN=Hydatidiform_mole;CLNREVSTAT=no_assertion_provided;CLNACC=RCV000084020.1;CLNDSDB=MedGen:OMIM:Orphanet:Orphanet;CLNDSDBID=C2931618:231090:ORPHA254688:ORPHA99927 Uncertain 19_55441744_C->T 19 55441744 55441744 C T snp 141.03 1/1 12 4 0 4 1.0 intronic rs647845 NLRP7 AR NM_139176 exon3 c.6759-122C>T 0.590056 0.6994 CLINSIG=untested;CLNDBN=Hydatidiform_mole;CLNREVSTAT=no_assertion_provided;CLNACC=RCV000084019.1;CLNDSDB=MedGen:OMIM:Orphanet:Orphanet;CLNDSDBID=C2931618:231090:ORPHA254688:ORPHA99927 Uncertain 19_55441769_G->A 19 55441769 55441769 G A snp 261.8 1/1 21 7 0 7 1.0 intronic NLRP7 AR NM_139176 exon3 c.6759-97G>A 0.590056 0.6994 Uncertain 19_55441902_T->C 19 55441902 55441902 T C snp 2529.77 1/1 99 93 0 93 1.0 exonic NLRP7 AR synonymous SNV NM_001127255 exon9 c.A2775G p.A925A 0.590056 0.6994 0.544287 0.5819 0.7138 1 T 0.0 P -0.953 T Likely benign 19_55441995_A->G 19 55441995 55441995 A G snp 2191.77 1/1 99 88 0 88 1.0 exonic NLRP7 AR synonymous SNV NM_001127255 exon9 c.T2682C p.Y894Y 0.590455 0.6994 0.544133 0.5815 0.7140 Uncertain 19_55481320_G->C 19 55481320 55481320 G C snp 32.77 0/1 61 5 3 2 0.4 intronic NLRP2 AU 0.286741 0.3611 Uncertain 19_55481398_G->A 19 55481398 55481398 G A snp 478.77 0/1 99 28 9 19 0.68 exonic NLRP2 AU synonymous SNV NM_017852 exon2 c.G15A p.A5A 0.0848642 0.0417 0.144933 0.1461 0.0486 Uncertain 19_55481669_T->C 19 55481669 55481669 T C snp 4551.77 1/1 99 167 0 167 1.0 splicing NLRP2 AU NM_001174081 exon2 c.280+6T>C 0.478634 0.4028 0.557435 0.4575 0.4314 Pathogenic 19_55485786_G->A 19 55485786 55485786 G A snp 298.77 0/1 99 30 17 13 0.43 intronic NLRP2 AU NM_001174081 exon3 c.4484-81G>A 0.240415 0.3542 Uncertain 19_55485899_G->A 19 55485899 55485899 G A snp 1028.77 0/1 99 123 75 48 0.39 exonic NLRP2 AU synonymous SNV NM_017852 exon3 c.G312A p.K104K 0.177117 0.3512 0.155875 0.1806 0.3731 Uncertain 19_55486167_G->C 19 55486167 55486167 G C snp 46.74 1/1 6 2 0 2 1.0 intronic NLRP2 AU NM_001174081 exon3 c.4529+255G>C 0.684105 0.6319 Uncertain 19_55488150_T->C 19 55488150 55488150 T C snp 933.77 0/1 99 78 36 42 0.54 intronic NLRP2 AU NM_001174081 exon4 c.7736-969T>C 0.178714 0.3532 Uncertain 19_55488180_C->T 19 55488180 55488180 C T snp 634.77 0/1 99 51 26 25 0.49 intronic NLRP2 AU NM_001174081 exon4 c.7736-939C>T 0.3095 0.0417 Uncertain 19_55489349_G->A 19 55489349 55489349 G A snp 554.77 0/1 99 51 31 20 0.39 intronic NLRP2 AU NM_001174081 exon4 c.7808+158G>A 0.274361 0.3323 Uncertain 19_55492885_T->C 19 55492885 55492885 T C snp 312.77 0/1 99 34 16 18 0.53 intronic NLRP2 AU NM_001174081 exon5 c.11601-99T>C 0.081869 0.0159 Uncertain 19_55493095_C->G 19 55493095 55493095 C G snp 1146.77 0/1 99 97 49 48 0.49 intronic NLRP2 AU NM_001174081 exon5 c.11667+45C>G 0.173123 0.3601 0.134861 0.1593 0.3915 Uncertain 19_55493441_C->T 19 55493441 55493441 C T snp 34.77 0/1 63 6 4 2 0.33 intronic NLRP2 AU NM_001174081 exon6 c.12146-88C>T 0.119609 0.0427 Uncertain 19_55494188_C->T 19 55494188 55494188 C T snp 456.77 0/1 99 62 40 22 0.35 exonic NLRP2 AU synonymous SNV NM_017852 exon6 c.C1122T p.D374D 0.109026 0.0516 0.183546 0.1612 0.0559 Uncertain 19_55494651_A->G 19 55494651 55494651 A G snp 1811.77 0/1 99 142 70 72 0.51 exonic NLRP2 AU nonsynonymous SNV NM_017852 exon6 c.A1585G p.T529A 0.120008 0.0437 0.202137 0.1748 0.0512 0.55 T 0.0 P -1.115 T 0.0 T 0.003 T Pathogenic 19_55494740_T->C 19 55494740 55494740 T C snp 2289.77 0/1 99 171 78 93 0.54 exonic NLRP2 AU synonymous SNV NM_017852 exon6 c.T1674C p.F558F 0.285144 0.3085 0.279717 0.2847 0.2989 Uncertain 19_55494881_C->G 19 55494881 55494881 C G snp 1849.77 0/1 99 129 58 71 0.55 exonic NLRP2 AU synonymous SNV NM_017852 exon6 c.C1815G p.L605L 0.271965 0.2302 0.312779 0.3286 0.2440 Uncertain 19_55496778_G->A 19 55496778 55496778 G A snp 56.74 1/1 6 2 0 2 1.0 intronic NLRP2 AU NM_001174081 exon7 c.15202+193G>A 0.16873 0.3651 Uncertain 19_55497506_C->T 19 55497506 55497506 C T snp 564.77 0/1 99 37 18 19 0.51 intronic NLRP2 AU NM_001174081 exon8 c.16135-12C>T 0.124201 0.0437 0.212287 0.1906 0.0540 Uncertain 19_55497826_G->A 19 55497826 55497826 G A snp 177.77 0/1 99 18 11 7 0.39 intronic NLRP2 AU NM_001174081 exon8 c.16300+143G>A 0.103035 0.0427 Uncertain 19_55497843_T->C 19 55497843 55497843 T C snp 139.77 0/1 99 12 7 5 0.42 intronic NLRP2 AU NM_001174081 exon8 c.16300+160T>C 0.124201 0.0437 Uncertain 19_55511927_G->A 19 55511927 55511927 G A snp 46.74 1/1 6 2 0 2 1.0 intronic NLRP2 AU NM_001174081 exon13 c.30744-200G>A 0.989617 0.999 Uncertain 19_55512137_C->A 19 55512137 55512137 C A snp 2186.77 0/1 99 224 131 93 0.42 exonic NLRP2 AU synonymous SNV NM_017852 exon13 c.C3060A p.I1020I 0.550519 0.6815 0.508458 0.5568 0.7090 Uncertain 19_55525388_G->T 19 55525388 55525388 G T snp 1986.77 1/1 99 73 0 73 1.0 UTR3 GP6 AR 0.718051 0.8125 Uncertain 19_55525497_A->G 19 55525497 55525497 A G snp 1801.77 1/1 99 69 0 69 1.0 exonic GP6 AR nonsynonymous SNV NM_001083899 exon8 c.T1816C p.F606L 0.726637 0.8125 0.805696 0.7690 0.8361 1 T 0.0 P -0.909 T 0.0 T 0.0 T Pathogenic 19_55525596_T->C 19 55525596 55525596 T C snp 893.77 1/1 66 26 0 26 1.0 exonic GP6 AR nonsynonymous SNV NM_001083899 exon8 c.A1717G p.R573G 0.716653 0.8075 0.734144 0.8083 0.8335 1 T 0.0 P -0.930 T 0.597 T 0.291 P Pathogenic 19_55525894_G->A 19 55525894 55525894 G A snp 4674.77 1/1 99 156 0 156 1.0 exonic GP6 AR synonymous SNV NM_001083899 exon8 c.C1419T p.P473P 0.717652 0.8125 0.733714 0.7904 0.8324 Uncertain 19_55526345_T->G 19 55526345 55526345 T G snp 4411.77 1/1 99 165 0 165 1.0 exonic GP6 AR nonsynonymous SNV NM_001083899 exon8 c.A968C p.K323T 0.823083 0.9673 0.797656 0.8467 0.9849 1 T 0.0 P -0.916 T 0.0 T 0.0 T Pathogenic 19_55526359_A->T 19 55526359 55526359 A T snp 3878.77 1/1 99 155 1 154 0.99 exonic GP6 AR synonymous SNV NM_001083899 exon8 c.T954A p.A318A 0.72484 0.8135 0.744905 0.7998 0.8336 0.4 T 0.0 P -1.025 T 0.0 T 0.0 T Likely benign 19_55527081_C->T 19 55527081 55527081 C T snp 2879.77 1/1 99 102 0 102 1.0 exonic GP6 AR nonsynonymous SNV NM_001083899 exon7 c.G745A p.A249T 0.713458 0.8105 0.730950 0.7895 0.8301 1 T 0.0 P -0.891 T 0.414 T 0.05 T Pathogenic 19_55527189_G->T 19 55527189 55527189 G T snp 2629.77 1/1 99 105 1 104 0.99 intronic GP6 AR NM_016363 exon2 c.813+88G>T 0.713458 0.8105 Uncertain 19_55527276_T->C 19 55527276 55527276 T C snp 735.77 1/1 57 20 0 20 1.0 intronic GP6 AR NM_016363 exon2 c.813+175T>C 0.74381 0.8105 Uncertain 19_55529836_C->T 19 55529836 55529836 C T snp 139.03 1/1 12 4 0 4 1.0 intronic GP6 AR NM_016363 exon3 c.3731-183C>T 0.73722 0.8095 Uncertain 19_55529933_A->G 19 55529933 55529933 A G snp 1534.77 1/1 99 47 0 47 1.0 intronic GP6 AR NM_016363 exon3 c.3731-86A>G 0.736821 0.8105 Uncertain 19_55530035_C->T 19 55530035 55530035 C T snp 3266.77 1/1 99 133 0 133 1.0 exonic GP6 AR nonsynonymous SNV NM_001083899 exon6 c.G709A p.E237K 0.74361 0.8105 0.766181 0.8008 0.8302 0.27 T 0.0 P -1.052 T 0.01 T 0.002 T Pathogenic 19_55536595_G->A 19 55536595 55536595 G A snp 1493.77 1/1 99 51 1 50 0.98 exonic GP6 AR nonsynonymous SNV NM_001083899 exon5 c.C655T p.P219S 0.842652 0.9663 0.825042 0.8139 0.9606 0.86 T 0.0 P -0.984 T 0.0 T 0.002 T ID=CM013737;DIS=Myocardial infarction, age related, association;TAG=DP;PUB=11571236 DP Pathogenic 19_55536884_G->A 19 55536884 55536884 G A snp 288.78 1/1 24 9 0 9 1.0 intronic GP6 AR NM_016363 exon4 c.10351+245G>A 0.72524 0.8095 Uncertain 19_55538980_T->C 19 55538980 55538980 T C snp 1470.77 1/1 99 50 0 50 1.0 exonic GP6 AR synonymous SNV NM_001083899 exon4 c.A576G p.S192S 0.907149 0.9663 0.880101 0.8648 0.9844 Uncertain 19_55539061_A->G 19 55539061 55539061 A G snp 3299.77 1/1 99 124 0 124 1.0 exonic GP6 AR synonymous SNV NM_001083899 exon4 c.T495C p.F165F 0.732428 0.8095 0.750244 0.7929 0.8307 Uncertain 19_55539072_T->G 19 55539072 55539072 T G snp 3510.77 1/1 99 133 1 132 0.99 exonic GP6 AR synonymous SNV NM_001083899 exon4 c.A484C p.R162R 0.842652 0.9663 0.817923 0.8470 0.9843 Uncertain 19_55543973_C->T 19 55543973 55543973 C T snp 1509.77 0/1 99 137 67 70 0.51 intronic GP6 AR NM_016363 exon7 c.17618+67C>T 0.151158 0.4157 0.097021 Uncertain 19_55549758_G->A 19 55549758 55549758 G A snp 93.28 1/1 9 3 0 3 1.0 upstream GP6 AR 0.455871 0.5685 Uncertain 19_55559715_G->A 19 55559715 55559715 G A snp 2730.77 0/1 99 217 110 107 0.49 exonic RDH13 AU synonymous SNV NM_001145971 exon5 c.C640T p.L214L 0.314297 0.4593 0.250569 0.2890 0.4551 Uncertain 19_55568236_A->G 19 55568236 55568236 A G snp 420.77 0/1 99 26 9 17 0.65 intronic RDH13 AU NM_001145971 exon5 c.11735+60A>G 0.113219 0.123 Uncertain 19_55570574_A->G 19 55570574 55570574 A G snp 2477.77 1/1 99 92 0 92 1.0 exonic RDH13 AU synonymous SNV NM_001145971 exon2 c.T135C p.G45G 0.859425 0.9722 0.828350 0.8629 0.9845 Uncertain 19_55574429_-->GGCGTCAGGCGTCC 19 55574429 55574429 - GGCGTCAGGCGTCC indel 10145.7 ./1 99 85 0 85 1.0 UTR5 RDH13 AU 0.2216 0.732 Uncertain 19_55574429_-->GGCGTCC 19 55574429 55574429 - GGCGTCC indel 10145.7 ./1 99 85 0 85 1.0 UTR5 RDH13 AU 0.84984 0.9692 0.5917 0.252 Uncertain 19_55574512_G->A 19 55574512 55574512 G A snp 931.77 1/1 69 32 0 32 1.0 UTR5 RDH13 AU 0.427316 0.6071 Uncertain 19_55589544_G->A 19 55589544 55589544 G A snp 1874.77 1/1 99 77 0 77 1.0 intronic EPS8L1 AU NM_133180 exon3 c.1684+48G>A 0.43131 0.5565 0.400877 0.4403 0.5549 Uncertain 19_55589619_T->G 19 55589619 55589619 T G snp 320.77 0/1 99 15 5 10 0.67 intronic EPS8L1 AU NM_133180 exon3 c.1684+123T>G 0.302316 0.3026 Uncertain 19_55589628_T->G 19 55589628 55589628 T G snp 340.77 1/1 24 11 0 11 1.0 intronic EPS8L1 AU NM_133180 exon3 c.1684+132T>G 0.280551 0.2817 Uncertain 19_55590220_C->T 19 55590220 55590220 C T snp 94.28 1/1 9 3 0 3 1.0 intronic EPS8L1 AU NM_133180 exon4 c.2554-146C>T 0.296725 0.3264 Uncertain 19_55590238_A->G 19 55590238 55590238 A G snp 297.78 1/1 24 8 0 8 1.0 intronic EPS8L1 AU NM_133180 exon4 c.2554-128A>G Uncertain 19_55590599_G->A 19 55590599 55590599 G A snp 44.74 1/1 6 2 0 2 1.0 intronic EPS8L1 AU NM_133180 exon4 c.2613+174G>A 0.615815 0.6448 Uncertain 19_55597369_G->C 19 55597369 55597369 G C snp 7146.77 1/1 99 250 0 250 1.0 intronic rs2290476 EPS8L1 AU NM_017729 exon10 c.5480+28G>C 0.440695 0.5496 0.417577 0.4341 0.5589 Uncertain 19_55598003_-->C 19 55598003 55598003 - C indel 496.73 1/1 51 19 0 19 1.0 intronic rs3217645 EPS8L1 AU NM_017729 exon13 c.6220-78insC 0.429313 0.5427 Uncertain 19_55603388_T->C 19 55603388 55603388 T C snp 2393.77 1/1 99 77 0 77 1.0 intronic rs10410929 PPP1R12C AU NM_017607 exon3 c.438+111T>C 0.890176 0.999 Uncertain 19_55605585_G->A 19 55605585 55605585 G A snp 135.03 1/1 12 4 0 4 1.0 intronic rs188625382 PPP1R12C AU NM_017607 exon10 c.2873-127G>A 0.494209 0.5863 Uncertain 19_55605659_CCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGA->- 19 55605659 55605694 CCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGA - indel 7558.73 1/1 99 63 0 63 1.0 intronic rs370611782 PPP1R12C AU NM_017607 exon10 c.2873-53_2873-18delCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGA Uncertain 19_55614923_T->C 19 55614923 55614923 T C snp 843.77 0/1 99 81 42 39 0.48 exonic rs2532060 PPP1R12C AU synonymous SNV NM_001271618 exon4 c.A585G p.E195E 0.68151 0.754 0.570538 0.5331 0.7740 Uncertain 19_55623806_C->T 19 55623806 55623806 C T snp 139.77 0/1 99 20 12 8 0.4 intronic rs604216 PPP1R12C AU NM_017607 exon20 c.20995-28C>T 0.188299 0.2748 0.214000 0.2680 0.2653 Uncertain 19_55644123_G->C 19 55644123 55644123 G C snp 529.77 0/1 99 42 18 24 0.57 UTR3 rs10414711 TNNT1 AR 0.324481 0.3651 Uncertain 19_55644325_A->C 19 55644325 55644325 A C snp 3236.77 1/1 99 131 1 130 0.99 exonic rs890868 TNNT1 AR synonymous SNV NM_003283 exon14 c.T795G p.R265R 0.980431 0.9306 0.999846 0.9892 0.9325 CLINSIG=untested,non-pathogenic;CLNDBN=not_provided,not_specified;CLNREVSTAT=no_assertion_provided,no_assertion_criteria_provided;CLNACC=RCV000024552.1,RCV000154008.2;CLNDSDB=MedGen,MedGen;CLNDSDBID=CN221809,CN169374 Uncertain 19_55644442_G->A 19 55644442 55644442 G A snp 291.77 0/1 99 27 15 12 0.44 intronic rs891186 TNNT1 AR NM_001291774 exon1 c.46+114G>A 0.282348 0.3651 CLINSIG=untested;CLNDBN=not_provided;CLNREVSTAT=no_assertion_provided;CLNACC=RCV000024553.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Uncertain 19_55652758_A->G 19 55652758 55652758 A G snp 281.77 0/1 99 19 9 10 0.53 intronic rs2560942 TNNT1 AR NM_001291774 exon7 c.8388+88A>G 0.50619 0.5427 CLINSIG=untested;CLNDBN=not_provided;CLNREVSTAT=no_assertion_provided;CLNACC=RCV000024556.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Uncertain 19_55660537_T->C 19 55660537 55660537 T C snp 5792.77 1/1 99 222 0 222 1.0 UTR5 rs9636153 TNNT1 AR 0.810104 0.7282 0.8315 0.7676 0.53 T 0.000 P -1.010 T CLINSIG=untested;CLNDBN=not_provided;CLNREVSTAT=no_assertion_provided;CLNACC=RCV000024550.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Uncertain 19_55665584_A->C 19 55665584 55665584 A C snp 2146.77 1/1 99 82 0 82 1.0 intronic rs7252610 TNNI3 AR,AD,AU NM_000363 exon2 c.2373+10A>C 1 1 1.0000 1 CLINSIG=non-pathogenic|non-pathogenic|probable-non-pathogenic;CLNDBN=Primary_familial_hypertrophic_cardiomyopathy|Cardiomyopathy|not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter|criteria_provided\x2c_single_submitter|criteria_provided\x2c_single_submitter;CLNACC=RCV000030563.1|RCV000125565.2|RCV000154609.1;CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:Orphanet:Orphanet:SNOMED_CT|MedGen|MedGen;CLNDSDBID=NBK1768:C0949658:192600:ORPHA155:ORPHA217569:ORPHA99739:83978005|CN001491|CN169374 Uncertain 19_55671337_C->T 19 55671337 55671337 C T snp 2135.77 1/1 99 79 0 79 1.0 exonic rs890872 DNAAF3 AR nonsynonymous SNV NM_001256714 exon10 c.G1294A p.D432N 1 1 1 1 1 T 0.0 P -0.987 T 0.007 T 0.001 T Pathogenic 19_55699364_G->A 19 55699364 55699364 G A snp 536.77 0/1 99 37 20 17 0.46 intronic rs537957308 PTPRH AU NM_001161440 exon8 c.6324-81G>A 0.000199681 Uncertain 19_55699454_T->C 19 55699454 55699454 T C snp 4598.77 1/1 99 175 0 175 1.0 exonic rs890870 PTPRH AU nonsynonymous SNV NM_001161440 exon11 c.A1933G p.K645E 1 1 0.9998 0.9988 1 T 0.000 P -1.002 T 0.0 T 0.0 T Pathogenic 19_55701185_A->G 19 55701185 55701185 A G snp 388.77 0/1 99 21 7 14 0.67 intronic rs564268020 PTPRH AU NM_001161440 exon8 c.6415+1649A>G 0.00259585 0.0129 0.0010 0.0079 Uncertain 19_55713796_T->C 19 55713796 55713796 T C snp 388.77 0/1 99 34 21 13 0.38 intronic rs12609389 PTPRH AU NM_001161440 exon15 c.20569+106T>C 0.0217652 0.1032 Uncertain 19_55738425_G->A 19 55738425 55738425 G A snp 59.74 1/1 6 3 0 3 1.0 UTR3 rs3745919 TMEM86B AU 0.596046 0.6766 Uncertain 19_55738634_T->C 19 55738634 55738634 T C snp 1008.77 1/1 72 37 0 37 1.0 exonic rs4644955 TMEM86B AU nonsynonymous SNV NM_173804 exon3 c.A596G p.H199R 0.915136 0.878 0.930376 0.9140 0.9116 1 T 0.000 P -0.995 T 0.0 T 0.0 T Pathogenic 19_55739515_T->C 19 55739515 55739515 T C snp 220.84 1/1 18 6 0 6 1.0 intronic rs4255895 TMEM86B AU NM_173804 exon2 c.1010-43T>C 0.673722 0.6984 0.628086 0.6494 0.7166 Uncertain 19_55739689_G->A 19 55739689 55739689 G A snp 3424.77 1/1 99 125 0 125 1.0 exonic rs10413828 TMEM86B AU synonymous SNV NM_173804 exon2 c.C168T p.P56P 0.432708 0.5992 0.357077 0.4237 0.6256 Uncertain 19_55742295_C->T 19 55742295 55742295 C T snp 37.77 0/1 66 7 5 2 0.29 ncRNA_exonic rs537268630 MIR6804 AU 0.000199681 6.308e-05 0 Uncertain 19_55751123_G->A 19 55751123 55751123 G A snp 1428.77 1/1 99 50 0 50 1.0 intronic rs8104509 PPP6R1 AU NM_014931 exon12 c.9298-70G>A 0.862021 0.9048 Uncertain 19_55756462_T->C 19 55756462 55756462 T C snp 812.77 0/1 99 73 37 36 0.49 intronic rs117813354 PPP6R1 AU NM_014931 exon20 c.14592-25T>C 0.0169728 0.0804 0.000240 0.0083 0.1027 Uncertain 19_55758628_C->T 19 55758628 55758628 C T snp 2035.77 1/1 99 63 0 63 1.0 intronic rs7258327 PPP6R1 AU NM_014931 exon23 c.16582+151C>T 0.877396 0.9048 0.9156 0.9498 Uncertain 19_55790886_-->GCCGCCGCC 19 55790886 55790886 - GCCGCCGCC indel 8879.73 1/1 99 95 0 95 1.0 exonic rs10701478 HSPBP1 AU nonframeshift insertion NM_001297600 exon1 c.228_229insGGCGGCGGC p.S77delinsGGGS 0.315233 0.5073 0.7842 ID=COSM1396535;OCCURENCE=1(breast),2(large_intestine) Uncertain 19_55791091_C->T 19 55791091 55791091 C T snp 3476.77 1/1 99 120 0 120 1.0 exonic rs62126354 HSPBP1 AU synonymous SNV NM_001297600 exon1 c.G24A p.L8L 0.672125 0.9058 0.5643 0.9007 Uncertain 19_55800788_C->T 19 55800788 55800788 C T snp 836.77 0/1 99 58 30 28 0.48 intronic rs73053155 BRSK1 AU NM_032430 exon4 c.5037-59C>T 0.136182 0.3978 Uncertain 19_55800789_C->G 19 55800789 55800789 C G snp 2080.77 1/1 99 59 1 58 0.98 intronic rs62126358 BRSK1 AU NM_032430 exon4 c.5037-58C>G 0.520966 0.753 Uncertain 19_55831846_C->T 19 55831846 55831846 C T snp 1288.77 0/1 99 126 69 57 0.45 intronic rs75629207 TMEM150B AU NM_001085488 exon4 c.7600+20C>T 0.0129792 0.0585 0.000161 0.0054 0.0655 Uncertain 19_55853346_C->T 19 55853346 55853346 C T snp 2775.77 0/1 99 249 130 119 0.48 exonic rs144118003 SUV420H2 AU synonymous SNV NM_032701 exon2 c.C42T p.N14N 0.00239617 0.0119 0.0010 0.0142 Uncertain 19_55854389_G->A 19 55854389 55854389 G A snp 598.77 1/1 45 15 0 15 1.0 intronic rs12610863 SUV420H2 AU NM_032701 exon4 c.915+170G>A 0.381989 0.7123 Uncertain 19_55856083_T->C 19 55856083 55856083 T C snp 2292.77 1/1 99 86 0 86 1.0 intronic rs11084395 SUV420H2 AU NM_032701 exon6 c.2061+718T>C 0.51897 0.7183 0.428771 0.5306 0.7455 Uncertain 19_55856211_C->T 19 55856211 55856211 C T snp 3169.77 1/1 99 114 0 114 1.0 intronic rs10405231 SUV420H2 AU NM_032701 exon6 c.2061+846C>T 0.492412 0.7232 0.400175 0.5414 0.7834 Uncertain 19_55857777_G->T 19 55857777 55857777 G T snp 2013.77 0/1 99 155 71 84 0.54 intronic rs45480394 SUV420H2 AU NM_032701 exon7 c.4413+60G>T 0.272364 0.1567 Uncertain 19_55865062_T->C 19 55865062 55865062 T C snp 1277.77 0/1 99 107 53 54 0.5 UTR3 rs144967211 COX6B2 AU 0.00539137 0.0208 0.000251 0.0035 0.0283 Uncertain 19_55865350_G->A 19 55865350 55865350 G A snp 311.77 0/1 99 37 18 19 0.51 intronic rs12461665 COX6B2 AU NM_144613 exon3 c.246+16G>A 0.491414 0.7272 0.445428 0.5203 0.7322 Uncertain 19_55866468_G->C 19 55866468 55866468 G C snp 273.77 0/1 99 19 9 10 0.53 splicing rs12971931 FAM71E2 AU 0.399161 0.7143 Pathogenic 19_55869880_GCTCCTTCATCTCGCCCCATGGCT->- 19 55869880 55869903 GCTCCTTCATCTCGCCCCATGGCT - indel 29425.7 1/1 99 172 0 172 1.0 exonic rs67168196 FAM71E2 AU nonframeshift deletion NM_001145402 exon9 c.2333_2356del p.778_786del 0.875599 0.9246 0.824842 0.8736 0.9 ID=COSM1396565,COSM1396564;OCCURENCE=8(large_intestine),5(breast) Uncertain 19_55870104_G->C 19 55870104 55870104 G C snp 6926.77 1/1 99 249 0 249 1.0 exonic rs12974819 FAM71E2 AU nonsynonymous SNV NM_001145402 exon9 c.C2132G p.P711R 0.950879 0.9315 0.983355 0.9695 0.9100 0.9 T 0.0 P -1.014 T 0.0 T 0.0 T Pathogenic 19_55870289_C->T 19 55870289 55870289 C T snp 7115.77 1/1 99 250 0 250 1.0 exonic rs12974907 FAM71E2 AU synonymous SNV NM_001145402 exon9 c.G1947A p.A649A 0.875399 0.9246 0.863119 0.8744 0.9019 Uncertain 19_55870351_T->C 19 55870351 55870351 T C snp 7141.77 1/1 99 238 0 238 1.0 exonic rs12976922 FAM71E2 AU nonsynonymous SNV NM_001145402 exon9 c.A1885G p.K629E 0.875599 0.9246 0.863119 0.8744 0.9013 0.61 T 0.0 P -1.046 T 0.0 T 0.0 T Pathogenic 19_55870600_C->G 19 55870600 55870600 C G snp 4908.77 1/1 99 176 0 176 1.0 exonic rs12460416 FAM71E2 AU nonsynonymous SNV NM_001145402 exon9 c.G1636C p.E546Q 0.950679 0.9315 0.982464 0.9682 0.9156 0.92 T 0.0 P -0.978 T 0.0 T 0.0 T Pathogenic 19_55871019_A->G 19 55871019 55871019 A G snp 4113.77 1/1 99 148 0 148 1.0 exonic rs12609732 FAM71E2 AU nonsynonymous SNV NM_001145402 exon9 c.T1217C p.L406P 0.943291 0.9315 0.973938 0.9664 0.9100 1 T 0.0 P -0.976 T 0.0 T 0.0 T Pathogenic 19_55872191_G->A 19 55872191 55872191 G A snp 4057.77 1/1 99 145 1 144 0.99 intronic rs897799 FAM71E2 AU NM_001145402 exon5 c.5553-29G>A 0.718251 0.8889 0.682873 0.7717 0.8730 Uncertain 19_55872397_A->G 19 55872397 55872397 A G snp 4992.77 1/1 99 182 0 182 1.0 exonic rs2124918 FAM71E2 AU synonymous SNV NM_001145402 exon6 c.T729C p.A243A 0.951278 0.9315 0.984231 0.9700 0.9078 Uncertain 19_55872531_C->G 19 55872531 55872531 C G snp 1016.77 0/1 99 78 38 40 0.51 intronic rs11084397 FAM71E2 AU NM_001145402 exon7 c.5874-10C>G 0.39357 0.7113 0.348664 0.4053 0.7136 Uncertain 19_55872566_A->G 19 55872566 55872566 A G snp 1772.77 1/1 99 60 0 60 1.0 exonic rs2124919 FAM71E2 AU synonymous SNV NM_001145402 exon5 c.T630C p.A210A 0.988618 0.9444 0.9969 0.9377 Uncertain 19_55872864_G->C 19 55872864 55872864 G C snp 1538.77 1/1 99 53 0 53 1.0 intronic rs11673515 FAM71E2 AU NM_001145402 exon8 c.6135+62G>C 0.661741 0.8849 0.633815 Uncertain 19_55872955_G->C 19 55872955 55872955 G C snp 222.84 1/1 18 6 0 6 1.0 intronic rs11673554 FAM71E2 AU NM_001145402 exon8 c.6135+153G>C 0.914337 0.8958 Uncertain 19_55873642_C->T 19 55873642 55873642 C T snp 2895.77 1/1 99 114 0 114 1.0 exonic rs4252574 FAM71E2 AU nonsynonymous SNV NM_001145402 exon3 c.G535A p.E179K 0.785743 0.8889 0.8904 0.8939 0.92 T 0.0 P -0.961 T 0.0 T 0.0 T Pathogenic 19_55877231_C->T 19 55877231 55877231 C T snp 154.77 0/1 99 11 5 6 0.55 UTR3 rs1042505 IL11 AU 0.279952 0.1875 Uncertain 19_55879872_C->T 19 55879872 55879872 C T snp 866.77 0/1 99 76 39 37 0.49 exonic rs1126757 IL11 AU synonymous SNV NM_001267718 exon2 c.G9A p.A3A 0.394369 0.7093 0.342688 0.4829 0.7269 Uncertain 19_55880385_G->T 19 55880385 55880385 G T snp 189.77 0/1 99 12 6 6 0.5 intronic rs62128183 IL11 AU NM_000641 exon4 c.2935+76G>T 0.304513 0.1895 Uncertain 19_55888156_C->T 19 55888156 55888156 C T snp 211.84 1/1 18 7 0 7 1.0 upstream rs35117389 TMEM190 AU 0.386781 0.7123 0.337276 Uncertain 19_55888554_T->C 19 55888554 55888554 T C snp 204.84 1/1 18 6 0 6 1.0 intronic rs10422041 TMEM190 AU NM_139172 exon2 c.173+160T>C 0.952476 0.9296 Uncertain 19_55895588_G->A 19 55895588 55895588 G A snp 421.77 1/1 33 13 0 13 1.0 exonic rs1870074 TMEM238 AU nonsynonymous SNV NM_001190764 exon1 c.C40T p.P14S 0.667133 0.8879 0 . 0.26 T 0.0 P -1.004 T Pathogenic 19_55903158_-->AG 19 55903158 55903158 - AG indel 958.73 1/1 57 20 0 20 1.0 UTR3 rs10626232 RPL28 AU 0.999201 0.996 0.999534 Uncertain 19_55913038_C->T 19 55913038 55913038 C T snp 853.77 0/1 99 64 27 37 0.58 exonic rs7608 UBE2S AU synonymous SNV NM_014501 exon4 c.G435A p.A145A 0.580871 0.4831 0.6431 0.5331 Uncertain 19_55913286_-->C 19 55913286 55913286 - C indel 554.73 1/1 45 17 0 17 1.0 intronic rs11393810 UBE2S AU NM_014501 exon1 c.327+156insC 1 1 Uncertain 19_55964720_G->A 19 55964720 55964720 G A snp 1387.77 0/1 99 140 75 65 0.46 exonic rs2303089 ISOC2 AU synonymous SNV NM_001136202 exon5 c.C363T p.S121S 0.109425 0.1002 0.062433 0.0809 0.1157 Uncertain 19_55966346_C->T 19 55966346 55966346 C T snp 3693.77 1/1 99 142 1 141 0.99 intronic rs2277959 ISOC2 AU NM_024710 exon2 c.1681-9C>T 0.401757 0.3095 0.357813 0.3756 0.3317 Uncertain 19_55966896_G->- 19 55966896 55966896 G - indel 458.73 0/1 99 28 12 16 0.57 intronic rs35627652 ISOC2 AU NM_024710 exon4 c.2328-106delG 0.167133 0.0992 Uncertain 19_55966971_C->T 19 55966971 55966971 C T snp 530.77 0/1 99 58 34 24 0.41 intronic rs12462602 ISOC2 AU NM_024710 exon4 c.2328-31C>T 0.181909 0.0992 0.184504 0.2568 0.1379 Uncertain 19_55967280_C->G 19 55967280 55967280 C G snp 136.77 0/1 99 15 10 5 0.33 intronic rs4801642 ISOC2 AU NM_024710 exon4 c.2538+68C>G Uncertain 19_55993260_A->G 19 55993260 55993260 A G snp 521.77 0/1 99 34 10 24 0.71 exonic rs34864744 ZNF628 AU nonsynonymous SNV NM_033113 exon3 c.A700G p.T234A 0.761781 0.4395 0.7937 0.4585 0.35 T 0.0 P -1.086 T 0.0 T 0.0 T Pathogenic 19_55993790_A->G 19 55993790 55993790 A G snp 288.77 0/1 99 41 25 16 0.39 exonic rs7254184 ZNF628 AU synonymous SNV NM_033113 exon3 c.A1230G p.E410E 0.601238 0.3274 0.7324 0.3571 Uncertain 19_55994240_C->T 19 55994240 55994240 C T snp 2246.77 0/1 99 151 65 86 0.57 exonic rs12981044 ZNF628 AU synonymous SNV NM_033113 exon3 c.C1680T p.H560H 0.568091 0.4375 0.594549 0.5606 0.4542 Uncertain 19_55996903_G->T 19 55996903 55996903 G T snp 122.77 0/1 99 12 7 5 0.42 intronic rs3745451 NAT14 AU 0.0461262 0.1776 Uncertain 19_55996939_G->A 19 55996939 55996939 G A snp 434.77 0/1 99 36 18 18 0.5 intronic rs3745450 NAT14 AU 0.548123 0.3819 Uncertain 19_55999993_A->G 19 55999993 55999993 A G snp 846.77 0/1 99 59 24 35 0.59 intronic rs4405662 SSC5D AU NM_001144950 exon1 c.25+12A>G 0.680312 0.4514 0.733903 0.7351 0.4453 Uncertain 19_56000797_C->T 19 56000797 56000797 C T snp 372.77 0/1 99 47 28 19 0.4 exonic rs76206863 SSC5D AU synonymous SNV NM_001144950 exon3 c.C129T p.T43T 0.0371406 0.1637 0.0394 0.3098 Uncertain 19_56001802_-->CCAAGCAA 19 56001802 56001802 - CCAAGCAA indel 2883.73 0/1 99 41 9 32 0.78 intronic rs5828624 SSC5D AU NM_001144950 exon5 c.1819+27insCCAAGCAA 0.575479 0.4246 0.525188 0.5179 0.4163 Uncertain 19_56001871_C->T 19 56001871 56001871 C T snp 223.77 0/1 99 13 4 9 0.69 intronic rs4274529 SSC5D AU NM_001144950 exon5 c.1819+96C>T 0.641773 0.4415 Uncertain 19_56009192_T->- 19 56009192 56009192 T - indel 244.73 0/1 99 12 5 7 0.58 intronic rs34794462 SSC5D AU NM_001144950 exon9 c.9290-54delT 0.792532 0.869 Uncertain 19_56009215_G->A 19 56009215 56009215 G A snp 319.77 0/1 99 26 13 13 0.5 intronic rs7254234 SSC5D AU NM_001144950 exon9 c.9290-31G>A 0.421925 0.3651 0.5059 0.3870 Uncertain 19_56009741_C->T 19 56009741 56009741 C T snp 37.77 0/1 66 6 4 2 0.33 intronic rs4801701 SSC5D AU NM_001144950 exon9 c.9608+177C>T 0.383786 0.246 Uncertain 19_56011460_C->T 19 56011460 56011460 C T snp 2602.77 0/1 99 244 122 122 0.5 exonic rs4801713 SSC5D AU synonymous SNV NM_001144950 exon10 c.C1983T p.T661T 0.385982 0.2302 0.473500 0.5324 0.2428 Uncertain 19_56012590_G->A 19 56012590 56012590 G A snp 384.77 0/1 99 26 10 16 0.62 intronic rs11669496 SSC5D AU NM_001144950 exon12 c.12612+22G>A 0.486821 0.379 0.576249 0.6011 0.3636 Uncertain 19_56012597_A->G 19 56012597 56012597 A G snp 310.77 0/1 99 22 9 13 0.59 intronic rs11669422 SSC5D AU NM_001144950 exon12 c.12612+29A>G 0.489417 0.372 0.5734 0.3502 Uncertain 19_56015448_C->T 19 56015448 56015448 C T snp 1491.77 0/1 99 167 93 74 0.44 intronic rs7257434 SSC5D AU NM_001195267 exon13 c.15526-34C>T 0.463259 0.2927 0.5892 0.2576 Uncertain 19_56024519_T->C 19 56024519 56024519 T C snp 832.77 0/1 99 66 31 35 0.53 exonic rs671542 SSC5D AU nonsynonymous SNV NM_001144950 exon13 c.T2927C p.L976P 0.971246 0.878 0.998905 0.9919 0.8775 0.18 T 0.0 P -1.008 T 0.0 T 0.0 T Pathogenic 19_56024563_G->C 19 56024563 56024563 G C snp 510.77 0/1 99 37 16 21 0.57 intronic rs514574 SSC5D AU NM_001144950 exon13 c.24583+24G>C 0.970647 0.875 0.998905 0.9917 0.868 Uncertain 19_56024599_A->G 19 56024599 56024599 A G snp 221.77 0/1 99 13 5 8 0.62 intronic rs671152 SSC5D AU NM_001144950 exon13 c.24583+60A>G 0.970647 0.875 Uncertain 19_56029465_G->A 19 56029465 56029465 G A snp 80.77 0/1 99 15 9 6 0.4 exonic rs4801331 SSC5D AU nonsynonymous SNV NM_001144950 exon14 c.G3822A p.M1274I 0.965855 0.869 0.993868 0.9894 0.8597 0.96 T 0.0 P -0.997 T 0.0 T 0.0 T Pathogenic 19_56030009_C->T 19 56030009 56030009 C T snp 2068.77 0/1 99 137 58 79 0.58 exonic rs925878 SSC5D AU nonsynonymous SNV NM_001144950 exon14 c.C4366T p.P1456S 0.164137 0.2212 0.2090 0.2429 0.17 T 0.0 P -0.967 T 0.001 T 0.003 T Pathogenic 19_56030428_C->A 19 56030428 56030428 C A snp 544.77 0/1 99 48 24 24 0.5 UTR3 rs10217 SSC5D AU 0.493211 0.3274 Uncertain 19_56041255_C->G 19 56041255 56041255 C G snp 734.77 0/1 99 57 23 34 0.6 exonic rs620251 SBK2 AU nonsynonymous SNV NM_001101401 exon4 c.G892C p.A298P 0.964058 0.8829 0.989370 0.9751 0.8922 1 T 0.0 P -0.964 T 0.003 T 0.003 T Pathogenic 19_56047448_A->G 19 56047448 56047448 A G snp 2929.77 1/1 99 105 0 105 1.0 exonic rs310453 SBK2 AU nonsynonymous SNV NM_001101401 exon2 c.T214C p.C72R 0.917931 0.8472 0.920863 0.9020 0.8746 0.32 T 0.994 P -1.009 T 0.0 T 0.0 T Pathogenic 19_56051946_A->G 19 56051946 56051946 A G snp 148.77 0/1 99 13 7 6 0.46 downstream rs73061113 SBK3 AU 0.14357 0.1111 Uncertain 19_56052337_-->C 19 56052337 56052337 - C indel 9412.73 1/1 99 246 0 246 1.0 exonic rs397738405 SBK3 AU frameshift insertion NM_001199824 exon4 c.954dupG p.F319fs 1 1 1 1 Pathogenic 19_56052770_C->T 19 56052770 56052770 C T snp 1368.77 0/1 99 136 76 60 0.44 exonic rs654439 SBK3 AU synonymous SNV NM_001199824 exon4 c.G522A p.P174P 0.810903 0.6429 0.8510 0.6649 Uncertain 19_56055436_A->G 19 56055436 56055436 A G snp 1358.77 0/1 99 105 46 59 0.56 intronic rs694398 SBK3 AU NM_001199824 exon2 c.3253-29A>G 0.494209 0.2778 0.6087 0.3194 Uncertain 19_56056184_A->G 19 56056184 56056184 A G snp 615.77 0/1 99 42 19 23 0.55 exonic rs491639 SBK3 AU synonymous SNV NM_001199824 exon2 c.T177C p.L59L 0.819489 0.6528 0.8652 0.6753 Uncertain 19_56056257_G->C 19 56056257 56056257 G C snp 466.77 0/1 99 32 13 19 0.59 exonic rs56258384 SBK3 AU nonsynonymous SNV NM_001199824 exon2 c.C104G p.P35R 0.0339457 0.1062 0.0250 0.1276 0.42 T -1.059 T Pathogenic 19_56089353_C->T 19 56089353 56089353 C T snp 2965.77 1/1 99 120 0 120 1.0 exonic rs2292812 ZNF579 AU synonymous SNV NM_152600 exon2 c.G1653A p.K551K 0.464457 0.2639 0.492214 0.5686 0.3289 Uncertain 19_56089908_-->CCG 19 56089908 56089908 - CCG indel 3406.73 1/1 99 59 0 59 1.0 exonic rs10643219 ZNF579 AU nonframeshift insertion NM_152600 exon2 c.1097_1098insCGG p.G366delinsGG 0.598842 0.2688 0.589820 0.6430 0.4425 ID=COSM128745;OCCURENCE=1(upper_aerodigestive_tract) Uncertain 19_56089947_C->G 19 56089947 56089947 C G snp 835.77 0/1 99 67 26 41 0.61 exonic rs10403008 ZNF579 AU nonsynonymous SNV NM_152600 exon2 c.G1059C p.E353D 0.246805 0.0754 0.207454 0.4480 0.1773 0 D 0.0 P -0.909 T 0.0 T 0.0 T Pathogenic 19_56090076_G->T 19 56090076 56090076 G T snp 1111.77 0/1 99 92 43 49 0.53 exonic rs34164618 ZNF579 AU synonymous SNV NM_152600 exon2 c.C930A p.A310A 0.235823 0.0754 0.233015 0.2530 0.0766 Uncertain 19_56090493_A->C 19 56090493 56090493 A C snp 331.77 0/1 99 33 19 14 0.42 exonic rs12974617 ZNF579 AU synonymous SNV NM_152600 exon2 c.T513G p.P171P 0.177915 0.1825 0.133045 0.1704 0.1620 Uncertain 19_56104136_T->C 19 56104136 56104136 T C snp 1958.77 1/1 99 71 0 71 1.0 exonic rs7247236 FIZ1 AU nonsynonymous SNV NM_032836 exon3 c.A1171G p.T391A 0.784944 0.5585 0.850700 0.7981 0.5717 0 D 0.000 P -1.053 T 0.0 T 0.0 T Pathogenic 19_56104524_C->T 19 56104524 56104524 C T snp 837.77 0/1 99 61 25 36 0.59 exonic rs10403432 FIZ1 AU synonymous SNV NM_032836 exon3 c.G783A p.Q261Q 0.250998 0.2014 0.5558 0.4038 Uncertain 19_56104560_C->G 19 56104560 56104560 C G snp 924.77 0/1 99 84 40 44 0.52 exonic rs10403462 FIZ1 AU synonymous SNV NM_032836 exon3 c.G747C p.T249T 0.251597 0.2014 0.5024 0.3509 Uncertain 19_56114045_C->T 19 56114045 56114045 C T snp 1235.77 0/1 99 96 49 47 0.49 exonic rs1077806 ZNF524 AU synonymous SNV NM_153219 exon2 c.C567T p.H189H 0.528754 0.6329 0.458025 0.5568 0.6942 Uncertain 19_56114237_G->A 19 56114237 56114237 G A snp 2346.77 1/1 99 88 0 88 1.0 exonic rs310459 ZNF524 AU synonymous SNV NM_153219 exon2 c.G759A p.E253E 0.838059 0.8413 0.872622 0.8934 0.8599 Uncertain 19_56125944_C->T 19 56125944 56125944 C T snp 1041.77 0/1 99 54 18 36 0.67 exonic rs2280254 ZNF865 AU synonymous SNV NM_001195605 exon1 c.C960T p.P320P 0.192692 0.2927 0.2010 0.3433 Uncertain 19_56127441_C->G 19 56127441 56127441 C G snp 683.77 0/1 99 79 47 32 0.41 exonic rs146619376 ZNF865 AU synonymous SNV NM_001195605 exon1 c.C2457G p.T819T 0.0672923 0.0476 0.1491 0.0254 Uncertain 19_56127597_G->A 19 56127597 56127597 G A snp 986.77 0/1 99 98 56 42 0.43 exonic rs3852898 ZNF865 AU synonymous SNV NM_001195605 exon1 c.G2613A p.T871T 0.194888 0.2937 0.1490 0.2955 Uncertain 19_56134038_C->T 19 56134038 56134038 C T snp 906.77 0/1 99 77 36 41 0.53 intronic rs908668 ZNF784 AU NM_203374 exon1 c.894+28C>T 0.210064 0.2937 0.174947 0.2742 0.3146 Uncertain 19_56136059_G->T 19 56136059 56136059 G T snp 145.77 0/1 99 17 10 7 0.41 upstream rs57314044 ZNF784 AU 0.28774 0.2917 Uncertain 19_56146924_G->C 19 56146924 56146924 G C snp 1108.77 0/1 99 86 42 44 0.51 intergenic rs8111497 ZNF784 AU 0.244609 0.2321 Uncertain 19_56153868_G->A 19 56153868 56153868 G A snp 1252.77 0/1 99 106 50 56 0.53 UTR5 rs310475 ZNF580 AU 0.485423 0.4772 0.587460 0.6103 0.4995 Uncertain 19_56154339_C->T 19 56154339 56154339 C T snp 899.77 0/1 99 75 38 37 0.49 exonic rs12981222 ZNF580 AU synonymous SNV NM_016202 exon1 c.C465T p.C155C 0.180911 0.2262 0.2754 0.3684 Uncertain 19_56160399_T->C 19 56160399 56160399 T C snp 808.77 1/1 60 25 0 25 1.0 UTR5 rs7246799 CCDC106 AU 0.988219 0.9921 0.981855 0.9812 0.9951 Uncertain 19_56162776_C->T 19 56162776 56162776 C T snp 987.77 1/1 72 32 0 32 1.0 exonic rs2287791 CCDC106 AU synonymous SNV NM_013301 exon5 c.C441T p.S147S 0.789337 0.6984 0.844337 0.8773 0.7066 Uncertain 19_56162881_C->T 19 56162881 56162881 C T snp 116.77 0/1 99 13 7 6 0.46 intronic rs519856 CCDC106 AU NM_013301 exon5 c.2449+20C>T 0.494808 0.4573 0.533735 0.6188 0.5383 Uncertain 19_56170751_C->T 19 56170751 56170751 C T snp 1179.77 1/1 90 44 0 44 1.0 intronic rs2271757 U2AF2 AU NM_007279 exon2 c.4241+40C>T 0.169529 0.2341 0.105090 0.1730 0.2745 Uncertain 19_56170771_G->A 19 56170771 56170771 G A snp 888.77 1/1 66 35 0 35 1.0 intronic rs537728 U2AF2 AU NM_007279 exon2 c.4241+60G>A 0.947284 0.995 Uncertain 19_56171778_A->C 19 56171778 56171778 A C snp 714.77 1/1 54 18 0 18 1.0 intronic rs507498 U2AF2 AU NM_007279 exon4 c.5411-103A>C 0.965655 0.995 Uncertain 19_56175149_G->A 19 56175149 56175149 G A snp 1453.77 1/1 99 49 0 49 1.0 intronic rs310444 U2AF2 AU NM_007279 exon7 c.8640+39G>A 0.94349 0.995 0.936722 0.9683 0.9963 Uncertain 19_56175245_C->A 19 56175245 56175245 C A snp 76.28 1/1 9 3 0 3 1.0 intronic rs310443 U2AF2 AU NM_007279 exon7 c.8640+135C>A 0.989217 0.995 Uncertain 19_56180281_T->C 19 56180281 56180281 T C snp 50.74 1/1 6 2 0 2 1.0 intronic rs679577 U2AF2 AU NM_007279 exon9 c.13688+123T>C 0.990016 0.995 Uncertain 19_56180732_T->C 19 56180732 56180732 T C snp 1727.77 1/1 99 64 0 64 1.0 intronic rs681804 U2AF2 AU NM_007279 exon11 c.14339-77T>C 0.78115 0.6905 Uncertain 19_56180968_C->T 19 56180968 56180968 C T snp 1719.77 1/1 99 60 0 60 1.0 exonic rs617073 U2AF2 AU synonymous SNV NM_001012478 exon11 c.C1191T p.D397D 0.777356 0.6875 0.830847 0.8665 0.6811 Uncertain 19_56200057_C->A 19 56200057 56200057 C A snp 556.77 1/1 42 16 1 15 0.94 intronic rs34046411 EPN1 AU NM_001130071 exon5 c.11698-178C>A 0.184704 0.2679 Uncertain 19_56204263_G->A 19 56204263 56204263 G A snp 2609.77 0/1 99 214 96 118 0.55 intronic rs181113465 EPN1 AU NM_001130071 exon9 c.15779-53G>A 0.00658946 0.0109 Uncertain 19_56220245_C->G 19 56220245 56220245 C G snp 347.77 0/1 99 24 10 14 0.58 UTR3 rs2287832 NLRP9 AU 0.227636 0.2411 0.204137 0.1673 0.2164 Uncertain 19_56220444_T->G 19 56220444 56220444 T G snp 301.77 0/1 99 29 15 14 0.48 intronic rs2287831 NLRP9 AU NM_176820 exon1 c.133+34T>G 0.207069 0.2381 0.166564 0.1325 0.2220 Uncertain 19_56241265_A->G 19 56241265 56241265 A G snp 3640.77 1/1 99 136 0 136 1.0 exonic rs193384 NLRP9 AU synonymous SNV NM_176820 exon3 c.T1926C p.L642L 0.9998 0.999 1.0000 0.9994 Uncertain 19_56249439_C->T 19 56249439 56249439 C T snp 445.77 0/1 99 35 15 20 0.57 intronic rs78925426 NLRP9 AU NM_176820 exon9 c.29183-21C>T 0.013778 0.0585 0.002307 0.0080 0.0630 Uncertain 19_56249445_A->G 19 56249445 56249445 A G snp 1197.77 1/1 87 41 0 41 1.0 intronic rs755804 NLRP9 AU NM_176820 exon9 c.29183-15A>G 0.652955 0.6052 0.660234 0.6355 0.5733 Uncertain 19_56249672_A->G 19 56249672 56249672 A G snp 1363.77 0/1 99 116 57 59 0.51 exonic rs56211941 NLRP9 AU synonymous SNV NM_176820 exon1 c.T69C p.F23F 0.190296 0.1786 0.147778 0.2197 0.1642 Uncertain 19_56273136_T->C 19 56273136 56273136 T C snp 4827.77 1/1 99 171 0 171 1.0 intronic rs2020385 RFPL4A AU 1 1 1 1 Uncertain 19_56273902_C->A 19 56273902 56273902 C A snp 1096.77 0/1 99 157 107 50 0.32 intronic rs2045865 RFPL4A AU NM_001145014 exon3 c.797-61C>A 0.284345 0.3621 Uncertain 19_56273904_A->C 19 56273904 56273904 A C snp 1080.77 0/1 99 164 115 49 0.3 intronic rs199794484 RFPL4A AU NM_001145014 exon3 c.797-59A>C 0.284345 0.3621 Uncertain 19_56274086_G->A 19 56274086 56274086 G A snp 182.77 0/1 99 249 222 27 0.11 exonic rs2616963 RFPL4A AU nonsynonymous SNV NM_001145014 exon3 c.G409A p.A137T 0.3315 0.3182 0.39 T 1 N -0.940 T 0.012 T 0.024 T Pathogenic 19_56274193_G->C 19 56274193 56274193 G C snp 1292.77 0/1 99 250 93 157 0.63 exonic rs149361735 RFPL4A AU synonymous SNV NM_001145014 exon3 c.G516C p.V172V 0.1745 0.2228 Uncertain 19_56274213_T->A 19 56274213 56274213 T A snp 123.77 0/1 99 250 180 70 0.28 exonic rs147035425 RFPL4A AU nonsynonymous SNV NM_001145014 exon3 c.T536A p.V179E 0.1813 0.1804 1 T 1 N -0.945 T 0.006 T 0.018 T Pathogenic 19_56274424_C->A 19 56274424 56274424 C A snp 561.77 0/1 99 250 205 45 0.18 exonic rs12463195 RFPL4A AU synonymous SNV NM_001145014 exon3 c.C747A p.P249P 0.3516 0.4039 Uncertain 19_56274453_G->A 19 56274453 56274453 G A snp 57.77 0/1 86 249 224 25 0.1 exonic rs12463244 RFPL4A AU nonsynonymous SNV NM_001145014 exon3 c.G776A p.G259E 0.3303 0.3776 0.34 T 0.0 P -1.062 T 0.002 T 0.009 T Pathogenic 19_56283029_A->G 19 56283029 56283029 A G snp 55.77 0/1 84 20 16 4 0.2 upstream rs2903731 RFPL4AL1 AU 0.230831 0.2242 Uncertain 19_56283049_A->T 19 56283049 56283049 A T snp 161.77 0/1 99 37 30 7 0.19 upstream rs2868051 RFPL4AL1 AU Uncertain 19_56283054_A->G 19 56283054 56283054 A G snp 211.77 0/1 99 48 39 9 0.19 upstream rs201873504 RFPL4AL1 AU 0.203674 0.2153 Uncertain 19_56283056_G->C 19 56283056 56283056 G C snp 210.77 0/1 99 50 40 10 0.2 upstream rs200206915 RFPL4AL1 AU 0.204673 0.2163 Uncertain 19_56283061_C->T 19 56283061 56283061 C T snp 220.77 0/1 99 65 54 11 0.17 upstream rs28568514 RFPL4AL1 AU 0.241613 0.25 Uncertain 19_56283289_A->G 19 56283289 56283289 A G snp 282.77 0/1 99 250 221 29 0.12 exonic rs2019945 RFPL4AL1 AU nonsynonymous SNV NM_001277397 exon1 c.A119G p.K40R 0.153155 0.1875 0.1958 0.2310 0.32 T -1.015 T Pathogenic 19_56283297_G->A 19 56283297 56283297 G A snp 288.77 0/1 99 249 220 29 0.12 exonic rs199759246 RFPL4AL1 AU nonsynonymous SNV NM_001277397 exon1 c.G127A p.D43N 0.183107 0.2063 0.2787 0.3027 0.24 T -0.989 T Pathogenic 19_56284090_G->A 19 56284090 56284090 G A snp 1077.77 0/1 99 250 195 55 0.22 exonic rs202217602 RFPL4AL1 AU nonsynonymous SNV NM_001277397 exon2 c.G409A p.A137T 0.4128 0.3905 0.4 T -0.954 T Pathogenic 19_56284197_C->G 19 56284197 56284197 C G snp 112.77 0/1 99 250 186 64 0.26 exonic rs117388121 RFPL4AL1 AU synonymous SNV NM_001277397 exon2 c.C516G p.V172V 0.0901 0.0791 Uncertain 19_56284396_A->T 19 56284396 56284396 A T snp 2507.77 1/1 99 139 0 139 1.0 exonic rs141642534 RFPL4AL1 AU nonsynonymous SNV NM_001277397 exon2 c.A715T p.N239Y 0.97504 0.8909 0.9900 0.9108 1 T -0.953 T Pathogenic 19_56284428_C->A 19 56284428 56284428 C A snp 1366.77 0/1 99 242 149 93 0.38 exonic rs150473927 RFPL4AL1 AU synonymous SNV NM_001277397 exon2 c.C747A p.P249P 0.4498 0.4535 Uncertain 19_56284457_G->A 19 56284457 56284457 G A snp 1923.77 0/1 99 250 145 105 0.42 exonic rs78244980 RFPL4AL1 AU nonsynonymous SNV NM_001277397 exon2 c.G776A p.G259E 0.4513 0.4886 0.61 T -0.992 T Pathogenic 19_56284507_T->G 19 56284507 56284507 T G snp 2107.77 0/1 99 249 143 106 0.43 exonic rs73933348 RFPL4AL1 AU nonsynonymous SNV NM_001277397 exon2 c.T826G p.S276A 0.501398 0.4821 0.4611 0.5 1 T -1.011 T Pathogenic 19_56284511_C->G 19 56284511 56284511 C G snp 2134.77 0/1 99 248 142 106 0.43 exonic rs112094956 RFPL4AL1 AU nonsynonymous SNV NM_001277397 exon2 c.C830G p.T277S 0.501398 0.4821 0.4616 0.5 0.72 T -0.981 T Pathogenic 19_56284529_C->A 19 56284529 56284529 C A snp 2007.77 0/1 99 249 144 105 0.42 exonic rs199519773 RFPL4AL1 AU nonsynonymous SNV NM_001277397 exon2 c.C848A p.S283Y 0.4422 0.4787 0.1 T -1.055 T Pathogenic 19_56284535_A->G 19 56284535 56284535 A G snp 2037.77 0/1 99 246 142 104 0.42 exonic rs144990325 RFPL4AL1 AU nonsynonymous SNV NM_001277397 exon2 c.A854G p.E285G 0.4466 0.4787 0.41 T -1.026 T Pathogenic 19_56284582_A->T 19 56284582 56284582 A T snp 1556.77 0/1 99 203 123 80 0.39 downstream rs201888659 RFPL4AL1 AU 0.2887 0.3470 Uncertain 19_56284587_C->G 19 56284587 56284587 C G snp 1347.77 0/1 99 176 110 66 0.38 downstream rs200252021 RFPL4AL1 AU 0.2370 0.3348 Uncertain 19_56284614_C->T 19 56284614 56284614 C T snp 723.77 0/1 99 103 65 38 0.37 downstream rs199744839 RFPL4AL1 AU 0.302516 0.3135 Uncertain 19_56289607_G->T 19 56289607 56289607 G T snp 397.77 0/1 99 32 15 17 0.53 intergenic rs560263340 RFPL4AL1 AU 0.000199681 0.001 Uncertain 19_56307583_A->G 19 56307583 56307583 A G snp 652.77 0/1 99 54 26 28 0.52 exonic rs2616940 NLRP11 AU synonymous SNV NM_001297743 exon5 c.T1908C p.C636C 0.672125 0.6677 0.716208 0.6938 0.6581 Uncertain 19_56320200_C->T 19 56320200 56320200 C T snp 1468.77 0/1 99 133 70 63 0.47 exonic rs16986626 NLRP11 AU synonymous SNV NM_001297743 exon2 c.G1479A p.R493R 0.136182 0.25 0.082270 0.0916 0.2225 Uncertain 19_56320663_G->A 19 56320663 56320663 G A snp 1764.77 0/1 99 156 85 71 0.46 exonic rs12461110 NLRP11 AU nonsynonymous SNV NM_001297743 exon2 c.C1016T p.P339L 0.233826 0.2758 0.255190 0.3160 0.3019 0.08 T 0.0 P -1.015 T 0.993 D 0.668 D Pathogenic 19_56321295_G->A 19 56321295 56321295 G A snp 1835.77 0/1 99 150 76 74 0.49 exonic rs12977654 NLRP11 AU synonymous SNV NM_001297743 exon2 c.C384T p.I128I 0.0996406 0.2371 0.044902 0.0842 0.2176 Uncertain 19_56321414_C->A 19 56321414 56321414 C A snp 7015.77 1/1 99 250 0 250 1.0 exonic rs299163 NLRP11 AU nonsynonymous SNV NM_001297743 exon2 c.G265T p.A89S 0.977835 0.999 0.952637 0.9559 1 0.57 T 0.0 P -0.984 T 0.0 T 0.001 T Pathogenic 19_56321517_T->C 19 56321517 56321517 T C snp 7407.77 1/1 99 248 0 248 1.0 exonic rs7249635 NLRP11 AU synonymous SNV NM_001297743 exon2 c.A162G p.G54G 0.175319 0.2351 0.126019 0.0908 0.2407 Uncertain 19_56329256_G->A 19 56329256 56329256 G A snp 672.77 0/1 99 49 25 24 0.49 intronic rs140915331 NLRP11 AU NM_145007 exon9 c.32279-13G>A 0.000399361 0.002 0.0001 0.0012 Uncertain 19_56329447_G->A 19 56329447 56329447 G A snp 1372.77 0/1 99 142 77 65 0.46 exonic rs76935241 NLRP11 AU nonsynonymous SNV NM_145007 exon4 c.C94T p.R32C 0.0177716 0.0615 0.001000 0.0104 0.0786 0.02 T 1 N -1.075 T 1.0 D 0.964 D Pathogenic 19_56368812_G->T 19 56368812 56368812 G T snp 54.74 1/1 6 2 0 2 1.0 intronic rs382657 NLRP4 AU NM_134444 exon3 c.5593-227G>T 0.487819 0.6627 Uncertain 19_56368863_G->A 19 56368863 56368863 G A snp 167.77 0/1 99 13 7 6 0.46 intronic rs11673189 NLRP4 AU NM_134444 exon3 c.5593-176G>A 0.374002 0.498 Uncertain 19_56368948_C->T 19 56368948 56368948 C T snp 1562.77 1/1 99 63 0 63 1.0 intronic rs435148 NLRP4 AU NM_134444 exon3 c.5593-91C>T 0.510383 0.6637 0.4671 0.6784 Uncertain 19_56369189_G->A 19 56369189 56369189 G A snp 4172.77 1/1 99 152 0 152 1.0 exonic rs441827 NLRP4 AU nonsynonymous SNV NM_134444 exon3 c.G430A p.A144T 0.515775 0.6657 0.391281 0.4464 0.6751 0.74 T 0.0 P -1.048 T 0.0 T 0.0 T Pathogenic 19_56369215_C->T 19 56369215 56369215 C T snp 4860.77 1/1 99 171 0 171 1.0 exonic rs395503 NLRP4 AU synonymous SNV NM_134444 exon3 c.C456T p.I152I 0.515974 0.6657 0.390973 0.4462 0.6748 Uncertain 19_56369593_T->C 19 56369593 56369593 T C snp 5911.77 1/1 99 200 0 200 1.0 exonic rs421810 NLRP4 AU synonymous SNV NM_134444 exon3 c.T834C p.A278A 0.53135 0.6657 0.426342 0.4756 0.6772 Uncertain 19_56370166_C->T 19 56370166 56370166 C T snp 2627.77 0/1 99 243 136 107 0.44 exonic rs379327 NLRP4 AU synonymous SNV NM_134444 exon3 c.C1407T p.H469H 0.104233 0.1647 0.087267 0.1251 0.1743 Uncertain 19_56372705_C->T 19 56372705 56372705 C T snp 1400.77 0/1 99 82 31 51 0.62 intronic rs4801635 NLRP4 AU NM_134444 exon4 c.9305-46C>T 0.51278 0.6448 0.433569 0.4773 0.6747 Uncertain 19_56373578_C->G 19 56373578 56373578 C G snp 424.77 0/1 99 17 5 12 0.71 intronic rs10853880 NLRP4 AU NM_134444 exon5 c.10079+53C>G 0.407748 0.5 Uncertain 19_56373608_A->G 19 56373608 56373608 A G snp 111.77 0/1 66 6 2 4 0.67 intronic rs10853881 NLRP4 AU NM_134444 exon5 c.10079+83A>G 0.505192 0.627 Uncertain 19_56393051_T->C 19 56393051 56393051 T C snp 639.77 0/1 99 55 29 26 0.47 UTR3 rs302457 NLRP4 AU 0.806909 0.8373 Uncertain 19_56410010_T->C 19 56410010 56410010 T C snp 469.77 1/1 36 12 0 12 1.0 intronic rs302826 NLRP13 AU NM_176810 exon2 c.2825-125T>C 0.904353 0.9692 Uncertain 19_56410340_T->G 19 56410340 56410340 T G snp 2943.77 1/1 99 97 0 97 1.0 intronic rs302828 NLRP13 AU NM_176810 exon2 c.2993+37T>G 0.888179 0.9692 0.853837 0.8675 0.9694 Uncertain 19_56413212_C->T 19 56413212 56413212 C T snp 137.03 1/1 12 5 0 5 1.0 intronic rs302834 NLRP13 AU NM_176810 exon3 c.6090-188C>T 0.777356 0.9147 Uncertain 19_56413583_A->G 19 56413583 56413583 A G snp 2078.77 1/1 99 65 0 65 1.0 intronic rs302835 NLRP13 AU NM_176810 exon3 c.6261+12A>G 0.911342 0.9673 0.880747 0.8931 0.9666 Uncertain 19_56435823_C->A 19 56435823 56435823 C A snp 777.77 0/1 99 57 28 29 0.51 intronic rs187422012 NLRP13 AU NM_176810 exon9 c.28645-132C>A 0.000998403 0.005 Uncertain 19_56443519_C->T 19 56443519 56443519 C T snp 3966.77 1/1 99 154 2 152 0.99 exonic rs12610617 NLRP13 AU synonymous SNV NM_176810 exon1 c.G159A p.P53P 0.0992412 0.2609 0.036060 0.0453 0.2749 Uncertain 19_56443864_-->TTTTTG 19 56443864 56443864 - TTTTTG indel 261.87 1/1 15 5 0 5 1.0 upstream rs145915426 NLRP13 AU 0.52496 0.5288 Uncertain 19_56459342_C->T 19 56459342 56459342 C T snp 2778.77 1/1 99 97 0 97 1.0 exonic rs306507 NLRP8 AU nonsynonymous SNV NM_176811 exon1 c.C74T p.P25L 0.721246 0.8115 0.627864 0.6501 0.8006 0.79 T 0.0 P -0.903 T 0.795 T 0.126 P Pathogenic 19_56459614_G->C 19 56459614 56459614 G C snp 5029.77 1/1 99 189 1 188 0.99 exonic rs306506 NLRP8 AU nonsynonymous SNV NM_176811 exon1 c.G346C p.V116L 0.726837 0.8135 0.633169 0.6520 0.8005 0.27 T 0.0 P -1.027 T 0.0 T 0.001 T Pathogenic 19_56464058_C->G 19 56464058 56464058 C G snp 2253.77 1/1 99 83 0 83 1.0 intronic rs306501 NLRP8 AU NM_176811 exon2 c.4710+80C>G 0.741014 0.8145 Uncertain 19_56473645_A->G 19 56473645 56473645 A G snp 652.94 1/1 14 20 1 19 0.95 intronic rs11671531 NLRP8 AU NM_176811 exon4 c.14335+42A>G 0.413339 0.5734 0.364832 0.4259 0.5639 Uncertain 19_56477687_A->G 19 56477687 56477687 A G snp 3083.77 1/1 99 119 0 119 1.0 exonic rs306497 NLRP8 AU synonymous SNV NM_176811 exon5 c.A2322G p.K774K 0.874601 0.8899 0.831309 0.8163 0.8941 Uncertain 19_56477710_T->C 19 56477710 56477710 T C snp 2763.77 1/1 99 99 0 99 1.0 exonic rs306496 NLRP8 AU nonsynonymous SNV NM_176811 exon5 c.T2345C p.V782A 0.658546 0.6885 0.593111 0.5843 0.6936 1 T 0.0 P -0.952 T 0.0 T 0.0 T Pathogenic 19_56487430_G->A 19 56487430 56487430 G A snp 139.77 0/1 99 16 9 7 0.44 intronic rs306483 NLRP8 AU NM_176811 exon8 c.28230-68G>A 0.299321 0.131 Uncertain 19_56487450_T->G 19 56487450 56487450 T G snp 875.77 1/1 66 27 0 27 1.0 intronic rs306482 NLRP8 AU NM_176811 exon8 c.28230-48T>G 0.566094 0.6468 0.544057 0.5956 0.6491 Uncertain 19_56487603_A->G 19 56487603 56487603 A G snp 5552.77 1/1 99 203 0 203 1.0 exonic rs306481 NLRP8 AU nonsynonymous SNV NM_176811 exon8 c.A2810G p.K937R 0.563099 0.6657 0.505843 0.5763 0.6660 0.72 T 0.0 P -0.952 T 0.018 T 0.03 T Pathogenic 19_56490778_C->T 19 56490778 56490778 C T snp 226.77 0/1 99 26 16 10 0.38 exonic rs306475 NLRP8 AU synonymous SNV NM_176811 exon9 c.C2895T p.F965F 0.615815 0.3403 0.701061 0.6346 0.3780 Uncertain 19_56499279_G->C 19 56499279 56499279 G C snp 3563.77 1/1 99 128 0 128 1.0 exonic rs306457 NLRP8 AU stoploss NM_176811 exon10 c.G3147C p.X1049Y 0.724641 0.623 0.733277 0.7426 0.6522 0.0 P Uncertain 19_56499345_A->G 19 56499345 56499345 A G snp 1625.77 1/1 99 50 0 50 1.0 UTR3 rs306455 NLRP8 AU 0.665935 0.5595 Uncertain 19_56510965_C->T 19 56510965 56510965 C T snp 729.77 0/1 99 59 31 28 0.47 upstream rs62123572 NLRP5 AU 0.289936 0.4544 Uncertain 19_56511082_C->G 19 56511082 56511082 C G snp 3014.77 1/1 99 104 0 104 1.0 upstream rs35427984 NLRP5 AU 0.939696 0.9276 0.940619 0.9199 0.9345 Uncertain 19_56511090_T->C 19 56511090 56511090 T C snp 1440.77 0/1 99 108 50 58 0.54 upstream rs76756220 NLRP5 AU 0.0658946 0.2014 0.025040 0.0450 0.2069 Uncertain 19_56511233_C->T 19 56511233 56511233 C T snp 238.77 0/1 99 26 15 11 0.42 intronic rs12462663 NLRP5 AU NM_153447 exon1 c.62+80C>T 0.157748 0.0456 Uncertain 19_56515334_C->T 19 56515334 56515334 C T snp 2514.77 0/1 99 216 102 114 0.53 exonic rs1560691 NLRP5 AU synonymous SNV NM_153447 exon2 c.C315T p.N105N 0.201078 0.3264 0.132305 0.1621 0.3051 Uncertain 19_56519997_T->C 19 56519997 56519997 T C snp 77.77 0/1 69 5 2 3 0.6 intronic rs12462844 NLRP5 AU NM_153447 exon3 c.9062-156T>C 0.324081 0.0942 Uncertain 19_56520091_C->T 19 56520091 56520091 C T snp 1025.77 0/1 99 65 27 38 0.58 intronic rs12460573 NLRP5 AU NM_153447 exon3 c.9062-62C>T 0.26857 0.0942 0.335742 Uncertain 19_56520129_G->A 19 56520129 56520129 G A snp 1369.77 0/1 99 109 52 57 0.52 intronic rs12460633 NLRP5 AU NM_153447 exon3 c.9062-24G>A 0.26857 0.0942 0.333113 0.3779 0.1469 Uncertain 19_56520150_C->G 19 56520150 56520150 C G snp 1501.77 0/1 99 126 60 66 0.52 splicing rs12460592 NLRP5 AU NM_153447 exon3 c.9062-3C>G 0.26897 0.0942 0.333665 0.3858 0.1436 Pathogenic 19_56520355_C->T 19 56520355 56520355 C T snp 502.77 0/1 99 38 20 18 0.47 intronic rs76148349 NLRP5 AU NM_153447 exon3 c.9128+136C>T 0.0776757 0.2113 Uncertain 19_56538203_C->A 19 56538203 56538203 C A snp 182.77 0/1 99 20 11 9 0.45 intronic rs3103612 NLRP5 AU NM_153447 exon7 c.27187-75C>A 0.847843 0.7312 Uncertain 19_56549510_T->C 19 56549510 56549510 T C snp 2130.77 0/1 99 163 76 87 0.53 exonic rs16986899 NLRP5 AU nonsynonymous SNV NM_153447 exon10 c.T2735C p.M912T 0.264976 0.3006 0.239374 0.1994 0.2893 0.22 T 0.0 P -0.955 T 0.0 T 0.0 T Pathogenic 19_56549532_A->G 19 56549532 56549532 A G snp 2333.77 0/1 99 184 91 93 0.51 exonic rs306447 NLRP5 AU synonymous SNV NM_153447 exon10 c.A2757G p.R919R 0.303115 0.3016 0.287535 0.2497 0.2898 Uncertain 19_56552230_A->G 19 56552230 56552230 A G snp 754.77 1/1 57 21 0 21 1.0 intronic rs2569425 NLRP5 AU NM_153447 exon11 c.41196-57A>G 0.765375 0.7956 Uncertain 19_56552456_G->T 19 56552456 56552456 G T snp 1950.77 0/1 99 183 96 87 0.48 exonic rs61732213 NLRP5 AU synonymous SNV NM_153447 exon11 c.G2955T p.L985L 0.224641 0.4792 0.116696 0.2054 0.5020 Uncertain 19_56561749_A->G 19 56561749 56561749 A G snp 550.77 1/1 42 18 0 18 1.0 intronic rs2574762 NLRP5 AU NM_153447 exon12 c.50692-34A>G 0.883786 0.7599 0.946961 0.9494 0.7814 Uncertain 19_56564818_G->A 19 56564818 56564818 G A snp 56.74 1/1 6 2 0 2 1.0 intronic rs58152554 NLRP5 AU NM_153447 exon13 c.53912-185G>A 0.0898562 0.2113 Uncertain 19_56564972_G->A 19 56564972 56564972 G A snp 1039.77 0/1 99 75 38 37 0.49 intronic rs60674753 NLRP5 AU NM_153447 exon13 c.53912-31G>A 0.0892572 0.2083 0.048794 0.0917 0.2337 Uncertain 19_56565164_G->A 19 56565164 56565164 G A snp 2697.77 1/1 99 97 0 97 1.0 exonic rs3103057 NLRP5 AU nonsynonymous SNV NM_153447 exon13 c.G3289A p.A1097T 0.897364 0.7877 0.954758 0.9523 0.7987 0.26 T 0.0 P -0.962 T 0.0 T 0.0 T Pathogenic 19_56565233_A->T 19 56565233 56565233 A T snp 319.77 0/1 99 26 11 15 0.58 intronic rs386127 NLRP5 AU NM_153447 exon13 c.54083+59A>T 0.384585 0.3909 Uncertain 19_56569629_C->G 19 56569629 56569629 C G snp 2555.77 1/1 99 83 0 83 1.0 exonic rs12462795 NLRP5 AU nonsynonymous SNV NM_153447 exon14 c.C3323G p.S1108C 0.171326 0.3383 0.123067 0.1689 0.3323 0.01 T 0.0 P -1.070 T 0.999 D 0.94 D Pathogenic 19_56572832_G->A 19 56572832 56572832 G A snp 2895.77 1/1 99 104 0 104 1.0 exonic rs10409555 NLRP5 AU nonsynonymous SNV NM_153447 exon15 c.G3541A p.V1181I 0.358826 0.4415 0.312878 0.3004 0.4138 0.71 T 0.0 P -1.097 T 0.0 T 0.0 T Pathogenic 19_56572875_G->A 19 56572875 56572875 G A snp 3439.77 1/1 99 127 0 127 1.0 exonic rs36118060 NLRP5 AU nonsynonymous SNV NM_153447 exon15 c.G3584A p.R1195Q 0.171126 0.3373 0.123372 0.1685 0.3336 0.31 T 0.0 P -1.059 T 0.994 D 0.537 D Pathogenic 19_56599405_C->G 19 56599405 56599405 C G snp 46.77 0/1 68 5 2 3 0.6 exonic rs4077285 ZNF787 AU nonsynonymous SNV NM_001002836 exon3 c.G1136C p.G379A 0.678514 0.7113 0.8357 0.7419 0.02 T 0.000 P -1.097 T Pathogenic 19_56599438_TCG->- 19 56599438 56599440 TCG - indel 349.73 0/1 99 14 6 8 0.57 exonic rs5828672 ZNF787 AU nonframeshift deletion NM_001002836 exon3 c.1101_1103del p.367_368del 0.900359 0.7252 0.9279 0.6944 ID=COSM1564984;OCCURENCE=1(large_intestine) Uncertain 19_56663256_A->G 19 56663256 56663256 A G snp 1681.77 0/1 99 142 73 69 0.49 intronic rs502722 ZNF444 AU NM_018337 exon3 c.297+4679A>G 0.372604 0.6002 0.0682 0.5781 Uncertain 19_56669758_T->C 19 56669758 56669758 T C snp 488.77 0/1 99 42 21 21 0.5 intronic rs679557 ZNF444 AU NM_018337 exon4 c.11582-104T>C 0.402356 0.5972 Uncertain 19_56688372_C->A 19 56688372 56688372 C A snp 77.77 0/1 63 6 2 4 0.67 intronic rs4368259 GALP AU 0.142173 0.369 Uncertain 19_56688570_G->A 19 56688570 56688570 G A snp 1579.77 0/1 99 132 64 68 0.52 splicing rs16987029 GALP AU NM_001145546 exon2 c.87+6G>A 0.140375 0.3671 0.061433 0.0953 0.3909 Pathogenic 19_56688706_C->G 19 56688706 56688706 C G snp 669.77 0/1 99 43 18 25 0.58 intronic rs16987031 GALP AU NM_001145546 exon2 c.87+142C>G 0.142173 0.3681 Uncertain 19_56691912_G->C 19 56691912 56691912 G C snp 3540.77 1/1 99 126 0 126 1.0 intronic rs274171 GALP AU NM_033106 exon3 c.3477-42G>C 0.846845 0.9256 0.805782 0.8270 0.9342 Uncertain 19_56693643_T->C 19 56693643 56693643 T C snp 3272.77 1/1 99 119 0 119 1.0 intronic rs274174 GALP AU NM_001145546 exon3 c.5144+22T>C 0.998203 0.9911 0.999846 0.9997 0.9983 Uncertain 19_56694382_T->C 19 56694382 56694382 T C snp 100.77 0/1 99 9 5 4 0.44 intronic rs3760852 GALP AU NM_001145546 exon4 c.6026-121T>C 0.0652955 0.2371 Uncertain 19_56694505_C->T 19 56694505 56694505 C T snp 1133.77 0/1 99 101 51 50 0.5 exonic rs575756 GALP AU synonymous SNV NM_033106 exon5 c.C219T p.D73D 0.314497 0.3383 0.315085 0.3677 0.3429 Uncertain 19_56702167_G->C 19 56702167 56702167 G C snp 101.77 0/1 99 11 6 5 0.45 intronic rs4801295 ZSCAN5B AU NM_001080456 exon2 c.1010-38G>C 0.0828674 0.244 0.020689 0.0658 0.2544 Uncertain 19_56702323_C->T 19 56702323 56702323 C T snp 1047.77 0/1 99 115 68 47 0.41 exonic rs4801296 ZSCAN5B AU nonsynonymous SNV NM_001080456 exon3 c.G622A p.V208I 0.483027 0.4067 0.473551 0.4071 0.4024 0.26 T 0.0 P -1.040 T 0.0 T 0.0 T Pathogenic 19_56703248_G->A 19 56703248 56703248 G A snp 1174.77 0/1 99 102 50 52 0.51 exonic rs527025 ZSCAN5B AU nonsynonymous SNV NM_001080456 exon2 c.C559T p.P187S 0.246006 0.2798 0.276718 0.2872 0.2926 0.25 T 0.0 P -1.028 T 1.0 D 0.996 D Pathogenic 19_56704260_C->T 19 56704260 56704260 C T snp 2178.77 0/1 99 181 92 89 0.49 exonic rs61742908 ZSCAN5B AU synonymous SNV NM_001080456 exon1 c.G162A p.E54E 0.0842652 0.253 0.020221 0.0633 0.2612 Uncertain 19_56704399_G->A 19 56704399 56704399 G A snp 2622.77 0/1 99 181 72 109 0.6 exonic rs61745809 ZSCAN5B AU nonsynonymous SNV NM_001080456 exon1 c.C23T p.S8L 0.0832668 0.249 0.021244 0.0706 0.2543 0.21 T 0.0 P -0.977 T 0.799 T 0.343 P Pathogenic 19_56717325_T->G 19 56717325 56717325 T G snp 1901.77 0/1 99 167 88 79 0.47 intergenic rs45544034 ZSCAN5B AU 0.0834665 0.251 0.0644 0.2517 0.38 T 0.0 P -0.899 T Uncertain 19_56717353_A->G 19 56717353 56717353 A G snp 1834.77 0/1 99 171 93 78 0.46 intergenic rs10419548 ZSCAN5B AU 0.45627 0.4702 0.3785 0.4663 0.74 T 0.0 P -0.944 T Uncertain 19_56718585_A->G 19 56718585 56718585 A G snp 2321.77 0/1 99 185 91 94 0.51 intergenic rs4801690 ZSCAN5B AU 0.606829 0.6726 0.5256 0.7090 0.89 T 0.0 P -0.993 T Uncertain 19_56718698_A->G 19 56718698 56718698 A G snp 192.77 0/1 99 21 13 8 0.38 intergenic rs9807807 ZSCAN5B AU 0.177117 0.2262 Uncertain 19_56718736_C->G 19 56718736 56718736 C G snp 191.77 0/1 60 8 2 6 0.75 intergenic rs117379843 ZSCAN5B AU 0.0780751 0.2341 Uncertain 19_56719389_T->G 19 56719389 56719389 T G snp 820.77 0/1 99 55 26 29 0.53 intergenic rs117836656 ZSCAN5B AU 0.0766773 0.2609 0.0469 0.4148 Uncertain 19_56719405_A->C 19 56719405 56719405 A C snp 964.77 0/1 99 76 39 37 0.49 intergenic rs12979551 ZSCAN5B AU 0.564297 0.5248 0.5869 0.6257 0.57 T 0.0 P -0.978 T Uncertain 19_56719632_G->A 19 56719632 56719632 G A snp 729.77 0/1 99 51 27 24 0.47 intergenic rs142078862 ZSCAN5B AU 0.0874601 0.2659 Uncertain 19_56719822_G->T 19 56719822 56719822 G T snp 1264.77 0/1 99 180 107 73 0.41 intergenic rs1865101 ZSCAN5B AU 0.666134 0.6954 0.6413 0.7147 Uncertain 19_56719853_C->A 19 56719853 56719853 C A snp 1184.77 0/1 99 169 100 69 0.41 intergenic rs1865102 ZSCAN5B AU 0.665935 0.6964 0.6360 0.7125 0.69 T 0.0 P -1.092 T Uncertain 19_56758220_G->A 19 56758220 56758220 G A snp 267.8 1/1 21 7 0 7 1.0 intergenic rs3972669 ZSCAN5A AU 0.914936 0.872 0.9277 0.8745 Uncertain 19_56758938_G->A 19 56758938 56758938 G A snp 697.77 0/1 99 74 45 29 0.39 intergenic rs35779585 ZSCAN5A AU 0.536741 0.5218 Uncertain 19_56888454_A->C 19 56888454 56888454 A C snp 1115.77 0/1 99 131 82 49 0.37 ncRNA_exonic rs2304125 ZNF542P AU 0.153355 0.3085 0.1742 0.4196 Uncertain 19_56888526_A->T 19 56888526 56888526 A T snp 699.77 0/1 99 76 44 32 0.42 ncRNA_exonic rs2304126 ZNF542P AU 0.0978435 0.2996 0.0900 0.3796 Uncertain 19_56895496_C->T 19 56895496 56895496 C T snp 878.77 0/1 99 73 38 35 0.48 exonic rs12978696 ZNF582 AU synonymous SNV NM_144690 exon5 c.G1290A p.K430K 0.158546 0.3095 0.119945 0.1513 0.3034 Uncertain 19_56896574_A->G 19 56896574 56896574 A G snp 685.77 0/1 99 64 36 28 0.44 intronic rs2304127 ZNF582 AU NM_144690 exon1 c.1322+21A>G 0.105431 0.3026 0.048954 0.0860 0.2980 Uncertain 19_56901293_C->T 19 56901293 56901293 C T snp 781.77 1/1 57 29 0 29 1.0 intronic rs6509995 ZNF582 AU NM_144690 exon2 c.6138-76C>T 0.829673 0.9484 Uncertain 19_56901620_C->A 19 56901620 56901620 C A snp 258.8 1/1 21 7 0 7 1.0 intronic rs2288860 ZNF582 AU NM_144690 exon3 c.6512-123C>A 0.639177 0.8998 Uncertain 19_56904509_-->A 19 56904509 56904509 - A indel 833.73 1/1 77 55 2 53 0.96 intronic rs11439847 ZNF582 AU NM_144690 exon5 c.9579-301insA 0.612819 0.8095 Uncertain 19_56905089_C->T 19 56905089 56905089 C T snp 110.77 0/1 99 11 6 5 0.45 ncRNA_exonic rs79080698 ZNF582-AS1 AU 0.00239617 0.0119 Uncertain 19_56918261_A->C 19 56918261 56918261 A C snp 129.03 1/1 12 4 0 4 1.0 intronic rs11084448 ZNF583 AU 0.886781 0.9494 Uncertain 19_56918560_T->A 19 56918560 56918560 T A snp 727.77 1/1 54 23 0 23 1.0 intronic rs4801159 ZNF583 AU NM_152478 exon2 c.9+68T>A 0.887181 0.9494 0.837933 Uncertain 19_56918574_T->C 19 56918574 56918574 T C snp 458.77 1/1 36 16 0 16 1.0 intronic rs2288862 ZNF583 AU NM_152478 exon2 c.9+82T>C 0.887181 0.9494 0.838152 Uncertain 19_56918598_T->C 19 56918598 56918598 T C snp 272.8 1/1 21 11 0 11 1.0 intronic rs2288863 ZNF583 AU NM_152478 exon2 c.9+106T>C 0.883187 0.9494 Uncertain 19_56935527_A->G 19 56935527 56935527 A G snp 4114.77 1/1 99 139 1 138 0.99 exonic rs3810340 ZNF583 AU synonymous SNV NM_001159860 exon5 c.A1500G p.A500A 0.645966 0.873 0.535907 0.5730 0.8772 Uncertain 19_56953272_G->A 19 56953272 56953272 G A snp 2028.77 0/1 99 175 93 82 0.47 exonic rs3760850 ZNF667 AU synonymous SNV NM_022103 exon5 c.C1092T p.D364D 0.201278 0.4266 0.064211 0.1137 0.4447 Uncertain 19_56953585_T->C 19 56953585 56953585 T C snp 5562.77 1/1 99 190 0 190 1.0 exonic rs3760849 ZNF667 AU nonsynonymous SNV NM_022103 exon5 c.A779G p.K260R 0.635184 0.874 0.521221 0.5704 0.8814 0.02 T 0.020 P -1.064 T 0.413 T 0.219 T Pathogenic 19_56953863_T->C 19 56953863 56953863 T C snp 3538.77 1/1 99 114 0 114 1.0 exonic rs8107758 ZNF667 AU synonymous SNV NM_022103 exon5 c.A501G p.T167T 0.986022 1 0.970475 0.9775 0.9999 Uncertain 19_56978525_T->G 19 56978525 56978525 T G snp 1787.77 0/1 99 143 69 74 0.52 intronic rs11881919 ZNF667 AU NM_022103 exon4 c.21268+4727T>G 0.430711 0.2034 Uncertain 19_57029837_T->G 19 57029837 57029837 T G snp 1175.77 0/1 99 100 53 47 0.47 intronic rs10416032 ZNF471 AU NM_020813 exon4 c.6910-13T>G 0.315296 0.5129 0.233431 0.3390 0.5536 Uncertain 19_57050515_C->G 19 57050515 57050515 C G snp 1041.77 0/1 99 88 45 43 0.49 exonic rs7258088 ZFP28 AU nonsynonymous SNV NM_020828 exon1 c.C128G p.A43G 0.420927 0.625 0.271060 0.4126 0.6631 0.5 T 0.0 P -1.031 T 0.024 T 0.008 T Pathogenic 19_57051287_A->G 19 57051287 57051287 A G snp 54.74 1/1 6 2 0 2 1.0 intronic rs4801172 ZFP28 AU NM_020828 exon2 c.698+202A>G 0.777556 0.7391 Uncertain 19_57060317_C->T 19 57060317 57060317 C T snp 552.77 0/1 99 34 10 24 0.71 intronic rs2074940 ZFP28 AU NM_020828 exon5 c.9939-9C>T 0.461462 0.621 0.351915 0.3461 0.6381 Uncertain 19_57060573_C->T 19 57060573 57060573 C T snp 151.77 0/1 99 15 8 7 0.47 intronic rs2074941 ZFP28 AU NM_020828 exon5 c.10103+83C>T 0.602636 0.6875 Uncertain 19_57060606_G->A 19 57060606 57060606 G A snp 38.77 0/1 67 6 4 2 0.33 intronic rs2074942 ZFP28 AU NM_020828 exon5 c.10103+116G>A 0.602037 0.6875 Uncertain 19_57062073_T->C 19 57062073 57062073 T C snp 783.77 0/1 99 61 27 34 0.56 intronic rs379214 ZFP28 AU NM_020828 exon7 c.11587+99T>C 0.78155 0.8988 0.6764 0.8629 Uncertain 19_57065189_T->C 19 57065189 57065189 T C snp 3038.77 0/1 99 250 130 120 0.48 exonic rs145011 ZFP28 AU synonymous SNV NM_020828 exon8 c.T1035C p.F345F 0.231629 0.3294 0.191835 0.2632 0.3185 Uncertain 19_57066013_C->T 19 57066013 57066013 C T snp 1593.77 0/1 99 140 73 67 0.48 exonic rs10409531 ZFP28 AU nonsynonymous SNV NM_020828 exon8 c.C1859T p.A620V 0.408946 0.2986 0.407427 0.3522 0.2633 0.13 T 0.000 P -1.010 T 0.261 T 0.133 T Pathogenic 19_57085769_G->C 19 57085769 57085769 G C snp 3200.06 0/1 99 250 118 132 0.53 exonic rs10421285 ZNF470 AU nonsynonymous SNV NM_001001668 exon4 c.G67C p.V23L 0.423922 0.2788 0.449331 0.3680 0.2492 0.41 T 0.0 P -0.995 T 0.0 T 0.001 T Pathogenic 19_57088558_A->G 19 57088558 57088558 A G snp 581.77 0/1 99 44 21 23 0.52 exonic rs3752179 ZNF470 AU nonsynonymous SNV NM_001001668 exon6 c.A761G p.K254R 0.0738818 0.2242 0.003076 0.0370 0.1983 0.16 T 0.001 P -1.006 T 0.447 T 0.26 P Pathogenic 19_57089050_C->T 19 57089050 57089050 C T snp 1705.77 0/1 99 145 72 73 0.5 exonic rs4801177 ZNF470 AU nonsynonymous SNV NM_001001668 exon6 c.C1253T p.T418I 0.772165 0.6815 0.799785 0.7313 0.6885 1 T 0.000 P -0.963 T 0.0 T 0.0 T Pathogenic 19_57175484_A->G 19 57175484 57175484 A G snp 1969.77 0/1 99 150 62 88 0.59 exonic rs7250003 ZNF835 AU synonymous SNV NM_001005850 exon2 c.T1083C p.P361P 0.474042 0.4732 0.419437 0.3797 0.4918 Uncertain 19_57175578_C->T 19 57175578 57175578 C T snp 1632.77 0/1 99 164 93 71 0.43 exonic rs12610410 ZNF835 AU nonsynonymous SNV NM_001005850 exon2 c.G989A p.G330D 0.119409 0.1667 0.114864 0.1357 0.1809 0.02 T 0.676 P -1.066 T 1.0 D 0.997 D Pathogenic 19_57176198_T->G 19 57176198 57176198 T G snp 2663.77 0/1 99 249 147 102 0.41 exonic rs8108756 ZNF835 AU synonymous SNV NM_001005850 exon2 c.A369C p.S123S 0.465256 0.4692 0.417961 0.3732 0.4851 Uncertain 19_57176304_T->G 19 57176304 57176304 T G snp 3087.77 0/1 99 249 130 119 0.48 exonic rs12460400 ZNF835 AU nonsynonymous SNV NM_001005850 exon2 c.A263C p.E88A 0.400759 0.4702 0.328587 0.3510 0.4836 0.01 T 0.0 P -0.932 T 0.004 T 0.008 T Pathogenic 19_57176482_C->T 19 57176482 57176482 C T snp 2996.77 0/1 99 249 126 123 0.49 exonic rs12462469 ZNF835 AU nonsynonymous SNV NM_001005850 exon2 c.G85A p.E29K 0.41234 0.4702 0.339635 0.3553 0.4861 0.91 T 0.0 P -0.965 T 0.146 T 0.057 T Pathogenic 19_57176820_C->A 19 57176820 57176820 C A snp 648.77 0/1 99 48 23 25 0.52 intronic rs12462993 ZNF835 AU NM_001005850 exon1 c.1661+207C>A 0.333866 0.4702 0.240146 0.2796 0.4822 0.02 T 0.0 P -0.940 T Uncertain 19_57176838_C->G 19 57176838 57176838 C G snp 400.77 0/1 99 28 13 15 0.54 intronic rs12462995 ZNF835 AU NM_001005850 exon1 c.1661+225C>G 0.334265 0.4702 0.239275 0.2791 0.4817 Uncertain 19_57184136_C->G 19 57184136 57184136 C G snp 429.77 0/1 99 26 10 16 0.62 intergenic rs10409943 ZNF835 AU 0.195887 0.1855 Uncertain 19_57290616_C->G 19 57290616 57290616 C G snp 82.28 1/1 9 3 0 3 1.0 ncRNA_intronic rs2286749 ZIM2-AS1 AU 0.405751 0.497 Uncertain 19_57290733_C->A 19 57290733 57290733 C A snp 1010.77 1/1 75 33 0 33 1.0 ncRNA_intronic rs2286750 ZIM2-AS1 AU 0.191094 0.3968 0.106259 0.1674 0.3711 Uncertain 19_57293394_A->G 19 57293394 57293394 A G snp 2095.77 1/1 99 77 0 77 1.0 exonic rs2286751 ZIM2 AU synonymous SNV NM_015363 exon9 c.T573C p.S191S 0.747204 0.6627 0.768953 0.7915 0.6609 Uncertain 19_57293831_G->A 19 57293831 57293831 G A snp 3415.77 1/1 99 127 0 127 1.0 ncRNA_intronic rs12610778 ZIM2-AS1 AU 0.219848 0.3968 0.2151 0.3406 Uncertain 19_57325083_C->T 19 57325083 57325083 C T snp 3135.77 1/1 99 111 0 111 1.0 exonic rs34051133 PEG3 AU nonsynonymous SNV NM_001146186 exon7 c.G4727A p.R1576H 0.18131 0.3948 0.101722 0.1646 0.3617 0.25 T -0.975 T 0.06 T 0.019 T Pathogenic 19_57329383_C->A 19 57329383 57329383 C A snp 90.28 1/1 9 3 0 3 1.0 intronic rs12609908 PEG3 AU NM_001146187 exon2 c.4164+177C>A 0.501997 0.5615 Uncertain 19_57335179_T->C 19 57335179 57335179 T C snp 2731.77 1/1 99 88 0 88 1.0 intronic rs1860566 PEG3 AU NM_001146184 exon6 c.10005+132T>C 0.767372 0.6706 Uncertain 19_57641146_A->G 19 57641146 57641146 A G snp 5184.77 1/1 99 157 0 157 1.0 exonic rs1027392 USP29 AU nonsynonymous SNV NM_020903 exon4 c.A1103G p.N368S 0.742013 0.9276 0.664872 0.6783 0.9408 0.35 T 0.0 P -0.946 T 0.916 T 0.497 D Pathogenic 19_57641799_G->A 19 57641799 57641799 G A snp 2034.77 0/1 99 158 78 80 0.51 exonic rs3795003 USP29 AU nonsynonymous SNV NM_020903 exon4 c.G1756A p.E586K 0.134585 0.4038 0.037214 0.0828 0.4328 0.93 T 0.0 P -0.969 T 0.476 P 0.1 P Pathogenic 19_57642098_G->A 19 57642098 57642098 G A snp 1712.77 0/1 99 187 109 78 0.42 exonic rs3764574 USP29 AU synonymous SNV NM_020903 exon4 c.G2055A p.V685V 0.427117 0.3611 0.462556 0.4899 0.3374 Uncertain 19_57642659_G->A 19 57642659 57642659 G A snp 1896.77 0/1 99 179 98 81 0.45 exonic rs61735240 USP29 AU synonymous SNV NM_020903 exon4 c.G2616A p.A872A 0.0159744 0.0417 0.001230 0.0091 0.0510 Uncertain 19_57642782_C->A 19 57642782 57642782 C A snp 1377.77 1/1 99 43 0 43 1.0 exonic rs9973206 USP29 AU stopgain NM_020903 exon4 c.C2739A p.Y913X 0.952077 1 0.882959 0.8913 1 1 T 0.002 P Pathogenic 19_57646218_C->T 19 57646218 57646218 C T snp 1009.77 0/1 99 99 59 40 0.4 UTR3 rs17305549 ZIM3 AU 0.128395 0.4038 Uncertain 19_57646249_C->T 19 57646249 57646249 C T snp 1216.77 0/1 99 140 82 58 0.41 UTR3 rs59231549 ZIM3 AU 0.158147 0.4028 0.056435 0.0914 0.4362 Uncertain 19_57646570_T->C 19 57646570 57646570 T C snp 1763.77 0/1 99 171 99 72 0.42 exonic rs4801433 ZIM3 AU nonsynonymous SNV NM_052882 exon5 c.A1135G p.I379V 0.422524 0.3621 0.457097 0.4880 0.3373 0.16 T 0.0 P -0.969 T 0.978 D 0.952 D Pathogenic 19_57647015_A->G 19 57647015 57647015 A G snp 6936.77 1/1 99 250 0 250 1.0 exonic rs7251328 ZIM3 AU synonymous SNV NM_052882 exon5 c.T690C p.N230N 0.649361 0.7649 0.587652 0.5951 0.7702 Uncertain 19_57647236_T->C 19 57647236 57647236 T C snp 6143.77 1/1 99 209 0 209 1.0 exonic rs7252632 ZIM3 AU nonsynonymous SNV NM_052882 exon5 c.A469G p.N157D 0.743211 0.9276 0.670152 0.6781 0.9411 0.04 T 0.0 P -0.902 T 0.0 T 0.0 T Pathogenic 19_57648277_A->T 19 57648277 57648277 A T snp 945.77 0/1 99 118 73 45 0.38 exonic rs4801200 ZIM3 AU nonsynonymous SNV NM_052882 exon4 c.T205A p.L69M 0.420927 0.3621 0.455251 0.4865 0.3373 1 T 0.0 P -0.938 T 0.704 T 0.198 P Pathogenic 19_57648433_T->C 19 57648433 57648433 T C snp 2599.77 1/1 99 100 0 100 1.0 intronic rs2370135 ZIM3 AU NM_052882 exon2 c.2054+94T>C 0.746006 0.9276 Uncertain 19_57649900_C->T 19 57649900 57649900 C T snp 1610.77 0/1 99 126 59 67 0.53 exonic rs2370134 ZIM3 AU nonsynonymous SNV NM_052882 exon3 c.G82A p.E28K 0.138978 0.247 0.137091 0.1700 0.2458 0.01 T 0.0 P -0.907 T 0.611 T 0.048 P Pathogenic 19_57649901_G->A 19 57649901 57649901 G A snp 1246.77 0/1 99 130 70 60 0.46 exonic rs17305556 ZIM3 AU synonymous SNV NM_052882 exon3 c.C81T p.P27P 0.129992 0.4127 0.024912 0.0763 0.4390 Uncertain 19_57649940_A->T 19 57649940 57649940 A T snp 1457.77 0/1 99 160 89 71 0.44 exonic rs17305563 ZIM3 AU synonymous SNV NM_052882 exon3 c.T42A p.T14T 0.128994 0.4137 0.024604 0.0763 0.4400 Uncertain 19_57653864_T->C 19 57653864 57653864 T C snp 379.77 0/1 99 20 8 12 0.6 intronic rs11084488 ZIM3 AU NM_052882 exon4 c.7711-132T>C 0.384585 0.376 Uncertain 19_57654065_T->C 19 57654065 57654065 T C snp 1659.77 0/1 99 157 84 73 0.46 intronic rs58537382 ZIM3 AU NM_052882 exon4 c.7768+12T>C 0.384585 0.376 0.435611 Uncertain 19_57654104_T->C 19 57654104 57654104 T C snp 1422.77 0/1 99 139 79 60 0.43 intronic rs59976893 ZIM3 AU NM_052882 exon4 c.7768+51T>C 0.386382 0.376 0.440648 Uncertain 19_57654216_T->G 19 57654216 57654216 T G snp 485.77 0/1 99 25 7 18 0.72 intronic rs77434521 ZIM3 AU NM_052882 exon4 c.7768+163T>G 0.130791 0.378 Uncertain 19_57654217_T->G 19 57654217 57654217 T G snp 129.77 0/1 99 24 17 7 0.29 intronic rs10426157 ZIM3 AU NM_052882 exon4 c.7768+164T>G 0.530351 0.4663 Uncertain 19_57665888_A->G 19 57665888 57665888 A G snp 828.77 0/1 99 66 35 31 0.47 intronic rs10420848 DUXA AU NM_001012729 exon1 c.71+38A>G 0.148962 0.379 0.065739 0.0967 0.4157 Uncertain 19_57665927_C->T 19 57665927 57665927 C T snp 441.77 0/1 99 31 14 17 0.55 intronic rs74258096 DUXA AU NM_001012729 exon1 c.71+77C>T 0.119609 0.3641 Uncertain 19_57665950_T->G 19 57665950 57665950 T G snp 68.77 0/1 61 5 2 3 0.6 intronic rs147982862 DUXA AU NM_001012729 exon1 c.71+100T>G 0.117612 0.3532 Uncertain 19_57670805_A->G 19 57670805 57670805 A G snp 857.77 0/1 99 92 57 35 0.38 intronic rs12609860 DUXA AU NM_001012729 exon4 c.4867+159A>G 0.165935 0.371 Uncertain 19_57703258_C->T 19 57703258 57703258 C T snp 1377.77 0/1 99 106 53 53 0.5 UTR5 rs77125234 ZNF264 AU 0.0311502 0.0486 0.048958 0.0955 0.0898 Uncertain 19_57703565_T->C 19 57703565 57703565 T C snp 425.41 1/1 8 14 1 13 0.93 intronic rs3787031 ZNF264 AU NM_003417 exon1 c.33+251T>C 0.616813 0.3214 Uncertain 19_57742472_G->C 19 57742472 57742472 G C snp 3787.77 1/1 99 139 0 139 1.0 UTR5 rs11084490 AURKC AR 0.867612 0.8472 0.8384 0.8246 Uncertain 19_57742489_C->T 19 57742489 57742489 C T snp 3607.77 1/1 99 135 0 135 1.0 UTR5 rs58264281 AURKC AR 0.767772 0.8492 0.7625 0.8043 Uncertain 19_57742494_GGACGAGCAGGATT->- 19 57742494 57742507 GGACGAGCAGGATT - indel 22234.7 1/1 99 136 0 136 1.0 UTR5 rs142269286 AURKC AR 0.764577 0.8492 0.618392 0.7650 0.8055 Uncertain 19_57742703_A->G 19 57742703 57742703 A G snp 1252.77 1/1 90 40 0 40 1.0 intronic rs758097 AURKC AR NM_001015878 exon1 c.58+29A>G 0.385583 0.6806 0.279974 0.3502 0.6925 Uncertain 19_57743039_T->C 19 57743039 57743039 T C snp 1839.77 1/1 99 57 1 56 0.98 intronic rs758098 AURKC AR NM_001015878 exon2 c.493-70T>C 0.868011 0.8502 0.849978 Uncertain 19_57743067_C->G 19 57743067 57743067 C G snp 2636.77 1/1 99 99 0 99 1.0 intronic rs2361127 AURKC AR NM_001015878 exon2 c.493-42C>G 0.384385 0.6806 0.298862 0.3460 0.6984 Uncertain 19_57743334_C->T 19 57743334 57743334 C T snp 370.77 1/1 30 12 0 12 1.0 intronic rs758099 AURKC AR NM_003160 exon3 c.247-66C>T 0.3748 0.6786 Uncertain 19_57743766_C->T 19 57743766 57743766 C T snp 341.78 1/1 27 11 0 11 1.0 intronic rs2074859 AURKC AR NM_003160 exon4 c.756-143C>T 0.376597 0.6806 Uncertain 19_57751972_T->C 19 57751972 57751972 T C snp 120.03 1/1 12 4 0 4 1.0 upstream rs55736291 ZNF805 AU 0.34345 0.6815 Uncertain 19_57760216_G->A 19 57760216 57760216 G A snp 1221.77 0/1 99 93 44 49 0.53 intronic rs1019071 ZNF805 AU NM_001023563 exon3 c.7809+148G>A 0.584864 0.752 Uncertain 19_57760289_G->A 19 57760289 57760289 G A snp 316.77 0/1 99 19 9 10 0.53 intronic rs73629343 ZNF805 AU NM_001023563 exon3 c.7809+221G>A 0.192292 0.0804 Uncertain 19_57792389_C->T 19 57792389 57792389 C T snp 182.9 1/1 15 5 0 5 1.0 intronic rs56332937 ZNF460 AU NM_006635 exon1 c.30+185C>T 0.11262 0.2738 0.030661 Uncertain 19_57865082_T->C 19 57865082 57865082 T C snp 4607.77 1/1 99 165 1 164 0.99 intronic rs862703 ZNF304 AU NM_001290318 exon2 c.2060-10T>C 0.755791 0.9415 0.673305 0.7573 0.9566 Uncertain 19_57868336_A->G 19 57868336 57868336 A G snp 4141.77 1/1 99 142 0 142 1.0 exonic rs862709 ZNF304 AU nonsynonymous SNV NM_020657 exon3 c.A1099G p.K367E 0.991214 0.9891 0.988698 0.9882 0.9958 1 T 0.0 P -0.944 T 0.0 T 0.0 T Pathogenic 19_57890000_C->T 19 57890000 57890000 C T snp 3865.77 1/1 99 138 0 138 1.0 UTR3 rs2361119 ZNF547 AU 0.864217 0.8016 Uncertain 19_57890292_T->G 19 57890292 57890292 T G snp 348.77 0/1 99 18 6 12 0.67 UTR3 rs78331547 ZNF547 AU 0.0139776 0.0536 Uncertain 19_57890360_T->C 19 57890360 57890360 T C snp 96.28 1/1 9 3 0 3 1.0 UTR3 rs8100747 ZNF547 AU 0.914137 0.8016 Uncertain 19_57909872_G->A 19 57909872 57909872 G A snp 4955.77 1/1 99 162 0 162 1.0 exonic rs4801478 ZNF548 AU nonsynonymous SNV NM_152909 exon3 c.G217A p.A73T 0.910343 0.8026 0.946610 0.9274 0.8038 1 T 0.0 P -1.020 T 0.0 T 0.0 T Pathogenic 19_57922664_T->C 19 57922664 57922664 T C snp 1152.77 1/1 84 35 0 35 1.0 UTR5 rs4801480 ZNF17 AU 0.928914 0.8016 Uncertain 19_57933003_T->C 19 57933003 57933003 T C snp 168.9 1/1 15 5 0 5 1.0 UTR3 rs2023761 ZNF17 AU 0.916733 0.8254 Uncertain 19_57954628_G->A 19 57954628 57954628 G A snp 1743.77 0/1 99 119 49 70 0.59 intronic rs7249430 ZNF749 AU NM_001023561 exon3 c.7712-30G>A 0.597843 0.7073 0.522535 0.6115 0.7446 Uncertain 19_57955244_A->G 19 57955244 57955244 A G snp 1860.77 0/1 99 132 58 74 0.56 exonic rs12986235 ZNF749 AU nonsynonymous SNV NM_001023561 exon3 c.A728G p.Q243R 0.199281 0.0913 0.259496 0.2240 0.0730 0.18 T 0.0 P -0.960 T 0.053 T 0.012 T Pathogenic 19_57956828_T->G 19 57956828 57956828 T G snp 1456.77 0/1 99 124 60 64 0.52 exonic rs7246856 ZNF749 AU nonsynonymous SNV NM_001023561 exon3 c.T2312G p.I771R 0.707268 0.7232 0.638252 0.6691 0.7577 1 T 0.216 P -1.048 T 0.0 T 0.0 T Pathogenic 19_57967049_G->T 19 57967049 57967049 G T snp 1930.77 0/1 99 126 48 78 0.62 exonic rs61744949 VN1R1 AU nonsynonymous SNV NM_020633 exon1 c.C806A p.A269D 0.413339 0.5913 0.291865 0.3567 0.6333 0.05 T 0.0 P -1.016 T 0.13 T 0.123 T Pathogenic 19_57967133_G->A 19 57967133 57967133 G A snp 2213.77 0/1 99 155 69 86 0.55 exonic rs28649880 VN1R1 AU nonsynonymous SNV NM_020633 exon1 c.C722T p.S241F 0.413938 0.5913 0.291942 0.3569 0.6338 0.76 T 0.0 P -0.999 T 0.855 T 0.55 P Pathogenic 19_57983457_A->G 19 57983457 57983457 A G snp 4438.77 1/1 99 160 0 160 1.0 UTR3 rs10153521 ZNF772 AU 0.676518 0.7014 0.6759 0.7239 Uncertain 19_57984918_A->G 19 57984918 57984918 A G snp 1867.77 0/1 99 125 59 66 0.53 exonic rs2074058 ZNF772 AU synonymous SNV NM_001144068 exon4 c.T1071C p.S357S 0.413938 0.5893 0.292942 0.3563 0.6316 Uncertain 19_57985460_T->A 19 57985460 57985460 T A snp 4456.77 1/1 99 163 0 163 1.0 exonic rs2074059 ZNF772 AU nonsynonymous SNV NM_001144068 exon4 c.A529T p.M177L 0.676518 0.7014 0.628402 0.6597 0.7204 0.02 T 0.0 P -1.039 T 0.0 T 0.0 T Pathogenic 19_57985566_G->C 19 57985566 57985566 G C snp 3746.77 1/1 99 130 0 130 1.0 exonic rs2074060 ZNF772 AU nonsynonymous SNV NM_001144068 exon4 c.C423G p.C141W 0.676917 0.7014 0.626941 0.6601 0.7210 0.22 T 0.000 P -1.005 T 0.0 T 0.0 T Pathogenic 19_57985889_T->C 19 57985889 57985889 T C snp 1538.77 0/1 99 83 29 54 0.65 intronic rs7257644 ZNF772 AU NM_001144068 exon1 c.1148+100T>C 0.263578 0.1121 Uncertain 19_57986184_G->A 19 57986184 57986184 G A snp 3422.77 1/1 99 118 0 118 1.0 intronic rs2285607 ZNF772 AU NM_001024596 exon2 c.1750-207G>A 0.676318 0.7014 Uncertain 19_57987895_C->T 19 57987895 57987895 C T snp 467.77 0/1 99 32 14 18 0.56 intronic rs2074065 ZNF772 AU NM_001144068 exon3 c.3360-106C>T 0.207668 0.0853 0.3898 0.1279 Uncertain 19_57987905_G->A 19 57987905 57987905 G A snp 435.77 0/1 99 41 24 17 0.41 intronic rs2067055 ZNF772 AU NM_001144068 exon3 c.3360-96G>A 0.41274 0.5893 0.3828 0.6562 Uncertain 19_57988199_C->G 19 57988199 57988199 C G snp 43.77 0/1 72 4 2 2 0.5 intronic rs35273075 ZNF772 AU NM_001144068 exon3 c.3399+159C>G 0.207468 0.0853 Uncertain 19_57988396_C->T 19 57988396 57988396 C T snp 203.77 0/1 99 15 8 7 0.47 intronic rs2074066 ZNF772 AU NM_001144068 exon4 c.4003-248C>T 0.263578 0.1121 Uncertain 19_57988666_-->GCC 19 57988666 57988666 - GCC indel 2887.73 0/1 99 158 69 89 0.56 exonic rs34678661 ZNF772 AU nonframeshift insertion NM_001024596 exon1 c.11_12insGGC p.A4delinsAA 0.406749 0.5823 0.285829 0.3527 0.6308 ID=COSM1397052;OCCURENCE=5(large_intestine),2(breast) Uncertain 19_57999182_A->G 19 57999182 57999182 A G snp 1717.77 0/1 99 157 83 74 0.47 UTR5 rs8113039 ZNF419 AU 0.415735 0.5823 Uncertain 19_58001512_T->A 19 58001512 58001512 T A snp 1180.77 0/1 99 105 50 55 0.52 splicing rs11672136 ZNF419 AU NM_024691 exon2 c.2196-2T>A 0.437101 0.5784 0.328035 0.4092 0.6233 Pathogenic 19_58002665_A->G 19 58002665 58002665 A G snp 54.74 1/1 6 2 0 2 1.0 intronic rs6510084 ZNF419 AU NM_001291745 exon2 c.3517-170A>G 0.695687 0.6984 Uncertain 19_58002819_T->A 19 58002819 58002819 T A snp 2994.77 1/1 99 111 0 111 1.0 intronic rs6510085 ZNF419 AU NM_001291745 exon2 c.3517-16T>A 0.694888 0.6984 0.660772 0.7113 0.7211 Uncertain 19_58002964_G->C 19 58002964 58002964 G C snp 1216.77 0/1 99 141 92 49 0.35 exonic rs1135692 ZNF419 AU synonymous SNV NM_024691 exon3 c.G198C p.L66L 0.261581 0.1181 0.328514 0.3056 0.0979 Uncertain 19_58003140_C->T 19 58003140 58003140 C T snp 80.77 0/1 99 121 110 11 0.09 intronic ZNF419 AU NM_024691 exon3 c.3647+175C>T 1 N -0.911 T Uncertain 19_58003141_A->G 19 58003141 58003141 A G snp 1684.77 1/1 99 119 0 119 1.0 intronic rs2074067 ZNF419 AU NM_024691 exon3 c.3647+176A>G 0.69389 0.6954 0.6582 0.6591 Uncertain 19_58003285_T->C 19 58003285 58003285 T C snp 56.74 1/1 6 77 18 59 0.77 intronic rs147596854 ZNF419 AU NM_024691 exon4 c.4162-195T>C 0.4123 0.4344 Uncertain 19_58003359_T->G 19 58003359 58003359 T G snp 50.74 1/1 6 2 0 2 1.0 intronic rs117470965 ZNF419 AU NM_024691 exon4 c.4162-121T>G 0.862021 0.7956 0.7067 0.6149 0.36 T 0.0 P -0.997 T Uncertain 19_58003488_A->G 19 58003488 58003488 A G snp 863.77 0/1 99 90 52 38 0.42 exonic rs2074070 ZNF419 AU synonymous SNV NM_024691 exon4 c.A207G p.A69A 0.430711 0.5764 0.4035 0.6191 Uncertain 19_58003580_A->G 19 58003580 58003580 A G snp 4944.77 1/1 99 179 0 179 1.0 splicing rs2074071 ZNF419 AU NM_024691 exon4 c.4261+1A>G 0.695487 0.6984 0.660772 0.7113 0.7210 0.001 P -1.202 T Pathogenic 19_58003613_C->T 19 58003613 58003613 C T snp 4885.77 1/1 99 183 0 183 1.0 intronic rs2074072 ZNF419 AU NM_024691 exon4 c.4261+34C>T 0.695487 0.6984 0.660695 0.7112 0.7205 Uncertain 19_58003728_G->A 19 58003728 58003728 G A snp 5156.77 1/1 99 178 0 178 1.0 intronic rs2074073 ZNF419 AU NM_024691 exon4 c.4261+149G>A 0.695487 0.6984 0.663586 0.7126 0.7222 Uncertain 19_58003873_C->T 19 58003873 58003873 C T snp 2947.77 1/1 99 99 0 99 1.0 intronic rs2074074 ZNF419 AU NM_024691 exon4 c.4261+294C>T 0.695687 0.6984 0.663586 0.7143 0.7225 Uncertain 19_58004158_C->T 19 58004158 58004158 C T snp 2224.77 1/1 99 83 0 83 1.0 intronic rs2074075 ZNF419 AU NM_024691 exon5 c.4905-65C>T 0.695487 0.6984 0.664109 0.7124 0.7211 Uncertain 19_58004346_G->C 19 58004346 58004346 G C snp 1751.77 1/1 99 53 0 53 1.0 exonic rs2074076 ZNF419 AU nonsynonymous SNV NM_024691 exon5 c.G421C p.E141Q 0.695687 0.6984 0.660080 0.7111 0.7201 0.42 T 0.0 P -1.070 T 0.867 T 0.463 P Pathogenic 19_58004931_A->G 19 58004931 58004931 A G snp 5507.77 1/1 99 204 1 203 1.0 exonic rs2074077 ZNF419 AU nonsynonymous SNV NM_024691 exon5 c.A1006G p.I336V 0.695487 0.6984 0.641395 0.7104 0.7178 0.4 T 0.0 P -1.119 T 0.0 T 0.001 T Pathogenic 19_58011421_G->T 19 58011421 58011421 G T snp 544.77 0/1 99 63 39 24 0.38 UTR5 rs12463137 ZNF773 AU 0.260982 0.2827 0.204173 0.4023 0.4711 Uncertain 19_58016193_A->G 19 58016193 58016193 A G snp 45.77 0/1 74 81 71 10 0.12 intronic rs4801227 ZNF773 AU NM_001304336 exon2 c.4706+39A>G 0.160343 0.1875 0.003041 0.0003 0.0003 Uncertain 19_58016196_T->C 19 58016196 58016196 T C snp 60.77 0/1 89 82 72 10 0.12 intronic rs4801228 ZNF773 AU NM_001304336 exon2 c.4706+42T>C 0.152556 0.1845 0.000316 0.0001 0 Uncertain 19_58016474_T->C 19 58016474 58016474 T C snp 1864.77 0/1 99 248 141 107 0.43 intronic rs150811873 ZNF773 AU NM_001304336 exon3 c.5221-195T>C Uncertain 19_58018848_A->G 19 58018848 58018848 A G snp 967.77 0/1 99 64 27 37 0.58 UTR3 rs2066936 ZNF773 AU 0.437899 0.5794 Uncertain 19_58038964_T->A 19 58038964 58038964 T A snp 2165.77 1/1 99 83 0 83 1.0 exonic rs12461014 ZNF549 AU nonsynonymous SNV NM_001199295 exon1 c.T23A p.I8N 0.989617 1 0.980086 0.9810 1 0.5 T 0.0 P -1.032 T 0.0 T 0.0 T Pathogenic 19_58071195_C->T 19 58071195 58071195 C T snp 108.77 0/1 99 12 8 4 0.33 UTR5 rs75946741 ZNF550 AU 0.167332 0.0933 Uncertain 19_58084930_G->A 19 58084930 58084930 G A snp 1808.77 0/1 99 96 31 65 0.68 exonic rs3746222 ZNF416 AU synonymous SNV NM_017879 exon4 c.C342T p.T114T 0.167532 0.0942 0.193219 0.1786 0.0687 Uncertain 19_58117223_T->A 19 58117223 58117223 T A snp 975.77 0/1 99 76 34 42 0.55 exonic rs2360543 ZNF530 AU nonsynonymous SNV NM_020880 exon3 c.T330A p.H110Q 0.746605 0.6825 0.799016 0.7360 0.6469 1 T 0.0 P -1.018 T 0.0 T 0.0 T Pathogenic 19_58213952_C->A 19 58213952 58213952 C A snp 6979.77 1/1 99 250 0 250 1.0 exonic rs2074078 ZNF154 AU nonsynonymous SNV NM_001085384 exon3 c.G365T p.G122V 0.166933 0.3671 0.106706 0.1441 0.3984 0 D 0.0 P -0.923 T 0.022 T 0.012 T Pathogenic 19_58231807_A->G 19 58231807 58231807 A G snp 3506.77 1/1 99 121 0 121 1.0 UTR3 rs2239986 ZNF671 AU 0.684505 0.7302 0.658388 0.5829 0.7283 Uncertain 19_58258466_G->T 19 58258466 58258466 G T snp 1873.77 0/1 99 183 98 85 0.46 intronic rs60751243 ZNF776 AU NM_173632 exon1 c.33+7G>T 0.282348 0.4335 0.265546 0.3570 0.5391 Uncertain 19_58258589_G->A 19 58258589 58258589 G A snp 937.77 0/1 99 79 42 37 0.47 intronic rs2074081 ZNF776 AU NM_173632 exon1 c.33+130G>A 0.172923 0.3442 Uncertain 19_58262454_-->T 19 58262454 58262454 - T indel 980.73 1/1 72 25 0 25 1.0 intronic rs11419013 ZNF776 AU NM_173632 exon2 c.3853+175insT 0.670527 0.7272 Uncertain 19_58281192_-->C 19 58281192 58281192 - C indel 2247.73 0/1 99 211 106 105 0.5 UTR5 rs397721121 ZNF586 AU 0.304513 0.4425 0.2725 0.4612 Uncertain 19_58281374_G->A 19 58281374 58281374 G A snp 173.77 0/1 99 13 7 6 0.46 intronic rs2285614 ZNF586 AU NM_017652 exon1 c.36+128G>A 0.297724 0.4147 Uncertain 19_58288169_C->T 19 58288169 58288169 C T snp 1894.77 0/1 99 130 63 67 0.52 intronic rs2285615 ZNF586 AU NM_017652 exon2 c.6827+132C>T 0.485823 0.4702 Uncertain 19_58291228_A->G 19 58291228 58291228 A G snp 4726.77 1/1 99 164 1 163 0.99 UTR3 rs2158013 ZNF586 AU 0.682308 0.7113 Uncertain 19_58301603_AG->- 19 58301603 58301604 AG - indel 280.73 0/1 99 17 10 7 0.41 intergenic rs56379637 ZNF586 AU 0.311701 0.4167 0.322011 0.3567 0.4659 Uncertain 19_58301767_G->- 19 58301767 58301767 G - indel 4005.73 0/1 99 250 128 122 0.49 intergenic rs398079975 ZNF586 AU 0.3125 0.4167 0.321897 0.3567 0.4656 Uncertain 19_58301946_G->A 19 58301946 58301946 G A snp 499.77 0/1 99 32 13 19 0.59 intergenic rs9789253 ZNF586 AU 0.164337 0.2411 Uncertain 19_58326001_A->G 19 58326001 58326001 A G snp 7439.77 1/1 99 249 0 249 1.0 intronic rs2303817 ZNF552 AU NM_024762 exon3 c.6671-77A>G 0.575679 0.6498 0.554534 0.5785 0.6897 Uncertain 19_58331012_T->C 19 58331012 58331012 T C snp 183.77 0/1 99 11 5 6 0.55 intergenic rs2303756 ZNF552 AU 0.23762 0.2341 0.4208 0.4 Uncertain 19_58341843_A->G 19 58341843 58341843 A G snp 2238.77 0/1 99 174 86 88 0.51 UTR5 rs12983990 ZNF587B AU 0.165136 0.2242 Uncertain 19_58342011_A->G 19 58342011 58342011 A G snp 2112.77 0/1 99 179 90 89 0.5 intronic rs6510107 ZNF587B AU NM_001204818 exon1 c.36+79A>G 0.234225 0.2242 Uncertain 19_58342110_-->TGT 19 58342110 58342110 - TGT indel 615.73 1/1 33 11 0 11 1.0 intronic rs10652728 ZNF587B AU NM_001204818 exon1 c.36+178insTGT 0.57528 0.628 Uncertain 19_58342128_G->C 19 58342128 58342128 G C snp 83.77 0/1 30 4 1 3 0.75 intronic rs62129192 ZNF587B AU NM_001204818 exon1 c.36+196G>C 0.165535 0.2252 Uncertain 19_58352522_G->A 19 58352522 58352522 G A snp 6834.77 1/1 99 250 0 250 1.0 exonic rs12981244 ZNF587B AU synonymous SNV NM_001204818 exon3 c.G480A p.R160R 0.572883 0.6796 0.4949 0.6799 Uncertain 19_58361328_G->C 19 58361328 58361328 G C snp 409.77 0/1 99 73 50 23 0.32 UTR5 rs28374851 ZNF587 AU 0.415136 0.4653 0.363116 Uncertain 19_58361334_G->A 19 58361334 58361334 G A snp 511.77 0/1 99 73 49 24 0.33 UTR5 rs28577146 ZNF587 AU 0.453874 0.4653 Uncertain 19_58361549_A->G 19 58361549 58361549 A G snp 657.77 0/1 99 49 20 29 0.59 intronic rs58754895 ZNF587 AU NM_032828 exon1 c.33+110A>G 0.42492 0.4087 Uncertain 19_58361602_G->C 19 58361602 58361602 G C snp 93.28 1/1 9 3 0 3 1.0 intronic rs12609734 ZNF587 AU NM_032828 exon1 c.33+163G>C 0.459465 0.4673 Uncertain 19_58370657_C->A 19 58370657 58370657 C A snp 200.77 0/1 99 199 165 34 0.17 exonic rs3745132 ZNF587 AU nonsynonymous SNV NM_001204817 exon3 c.C874A p.Q292K 0.0460 0.1050 0.04 T 1.000 N -1.007 T 0.0 T 0.0 T Pathogenic 19_58370727_T->G 19 58370727 58370727 T G snp 1736.77 0/1 99 241 145 96 0.4 exonic rs77825740 ZNF587 AU nonsynonymous SNV NM_001204817 exon3 c.T944G p.L315R 0.288538 0.4087 0.2918 0.4531 1 T 1.000 N -0.945 T 0.0 T 0.0 T Pathogenic 19_58374130_C->T 19 58374130 58374130 C T snp 1908.77 0/1 99 133 60 73 0.55 UTR3 rs7253130 ZNF587 AU 0.284345 0.3899 Uncertain 19_58385954_T->C 19 58385954 58385954 T C snp 1087.77 0/1 99 87 45 42 0.48 exonic rs10412929 ZNF814 AU synonymous SNV NM_001144989 exon3 c.A804G p.K268K 0.30611 0.4385 0.270477 0.1651 0.3795 Uncertain 19_58386651_C->A 19 58386651 58386651 C A snp 1089.77 0/1 99 106 56 50 0.47 intronic rs12610589 ZNF814 AU NM_001144989 exon1 c.2405+57C>A 0.305511 0.4385 Uncertain 19_58386762_A->G 19 58386762 58386762 A G snp 926.77 0/1 99 98 54 44 0.45 intronic rs7252219 ZNF814 AU NM_001144989 exon1 c.2405+168A>G 0.338458 0.4385 Uncertain 19_58420682_T->C 19 58420682 58420682 T C snp 663.77 0/1 99 250 188 62 0.25 exonic rs202194085 ZNF417 AU nonsynonymous SNV NM_001297734 exon3 c.A961G p.R321G 0.0051 0.0096 0.07 T 1.000 N -1.018 T 0.0 T 0.0 T Pathogenic 19_58439306_G->A 19 58439306 58439306 G A snp 785.77 0/1 99 81 46 35 0.43 exonic rs7253514 ZNF418 AU synonymous SNV NM_133460 exon4 c.C243T p.A81A 0.289137 0.4048 0.252576 0.2835 0.4703 Uncertain 19_58455381_C->T 19 58455381 58455381 C T snp 3018.77 1/1 99 117 0 117 1.0 exonic rs257652 ZNF256 AU synonymous SNV NM_005773 exon2 c.G81A p.E27E 0.992612 0.9792 0.999539 0.9930 0.9841 Uncertain 19_58485439_C->T 19 58485439 58485439 C T snp 1841.77 0/1 99 125 53 72 0.58 intronic rs257676 C19orf18 AU NM_152474 exon5 c.15497-27C>T 0.722843 0.7192 0.732508 0.6532 0.7544 Uncertain 19_58500271_T->G 19 58500271 58500271 T G snp 37.77 0/1 66 4 2 2 0.5 intronic rs11880378 ZNF606 AU NM_025027 exon3 c.10421+182T>G 0.673323 0.5982 Uncertain 19_58510932_T->C 19 58510932 58510932 T C snp 33.77 0/1 62 4 2 2 0.5 intronic rs1035522 ZNF606 AU NM_025027 exon4 c.21507-243T>C 0.65595 0.5962 Uncertain 19_58511351_C->T 19 58511351 58511351 C T snp 343.77 0/1 99 28 14 14 0.5 intronic rs78035577 ZNF606 AU NM_025027 exon4 c.21596+87C>T 0.00179712 0.0089 Uncertain 19_58514715_C->G 19 58514715 58514715 C G snp 480.77 0/1 99 36 16 20 0.56 ncRNA_intronic rs4801540 LOC100128398 AU 0.434904 0.5258 0.5479 0.5253 Uncertain 19_58596449_C->T 19 58596449 58596449 C T snp 1439.77 0/1 99 140 77 63 0.45 exonic rs2258557 ZSCAN18 AU nonsynonymous SNV NM_001145544 exon6 c.G728A p.G243E 0.163339 0.1171 0.137119 0.1683 0.1221 0.36 T 0.0 P -0.892 T 0.001 T 0.001 T Pathogenic 19_58598784_A->G 19 58598784 58598784 A G snp 698.77 0/1 99 71 42 29 0.41 intronic rs2260914 ZSCAN18 AU NM_001145544 exon4 c.2720+13A>G 0.748203 0.621 0.781808 0.7624 0.6139 Uncertain 19_58601221_T->C 19 58601221 58601221 T C snp 1768.77 0/1 99 172 95 77 0.45 intronic rs2547354 ZSCAN18 AU NM_001145543 exon6 c.5180-10T>C 0.509385 0.2897 0.568968 0.5416 0.2875 Uncertain 19_58629830_A->T 19 58629830 58629830 A T snp 714.77 0/1 99 36 12 24 0.67 upstream rs8108978 ZSCAN18 AU 0.66853 0.5496 Uncertain 19_58629878_G->T 19 58629878 58629878 G T snp 153.77 0/1 99 10 4 6 0.6 upstream rs8109275 ZSCAN18 AU 0.66853 0.5486 Uncertain 19_58718360_-->G 19 58718360 58718360 - G indel 1553.73 1/1 99 40 0 40 1.0 exonic rs59557917 ZNF274 AU unknown 1 1 0.999920 1.0000 1 Uncertain 19_58774071_A->G 19 58774071 58774071 A G snp 654.77 0/1 99 64 37 27 0.42 exonic rs260462 ZNF544 AU nonsynonymous SNV NM_014480 exon7 c.A2099G p.Q700R 0.527356 0.5873 0.534215 0.5475 0.5637 1 T 0.000 P -0.971 T 0.03 T 0.0 T Pathogenic 19_58774224_C->- 19 58774224 58774224 C - indel 150.73 0/1 99 10 3 7 0.7 UTR3 rs34204906 ZNF544 AU 0.298123 0.5704 Uncertain 19_58791254_A->T 19 58791254 58791254 A T snp 171.77 0/1 99 20 13 7 0.35 intronic rs77570482 ZNF8 AU NM_021089 exon1 c.66+741A>T 0.838858 0.6329 Uncertain 19_58805783_C->T 19 58805783 58805783 C T snp 1928.77 0/1 99 161 82 79 0.49 exonic rs3745137 ZNF8 AU synonymous SNV NM_021089 exon4 c.C609T p.Y203Y 0.0189696 0.0466 0.003076 0.0155 0.0724 Uncertain 19_58858232_C->- 19 58858232 58858232 C - indel 3230.05 1/1 99 77 0 77 1.0 UTR3 rs3214663 A1BG AU 0.804313 0.9018 Uncertain 19_58858615_G->- 19 58858615 58858615 G - indel 2091.73 1/1 99 54 0 54 1.0 intronic rs11345647 A1BG AU NM_130786 exon2 c.331-103delG 1 1 Uncertain 19_58858676_A->G 19 58858676 58858676 A G snp 3273.77 1/1 99 122 0 122 1.0 intronic rs1265957 A1BG AU NM_130786 exon2 c.331-42A>G 0.922524 0.9028 0.967130 0.9267 0.9130 Uncertain 19_58859055_-->CCCAGGCCGCG 19 58859055 58859055 - CCCAGGCCGCG indel 2691.73 1/1 69 27 0 27 1.0 intronic rs144085420 A1BG AU NM_130786 exon2 c.619+49insCCCAGGCCGCG 0.586390 0.1667 . Uncertain 19_58859066_A->G 19 58859066 58859066 A G snp 600.77 1/1 45 16 0 16 1.0 intronic rs1265959 A1BG AU NM_130786 exon2 c.619+60A>G 0.692492 0.8333 Uncertain 19_58864479_T->C 19 58864479 58864479 T C snp 6686.77 1/1 99 249 0 249 1.0 exonic rs893184 A1BG AU nonsynonymous SNV NM_130786 exon3 c.A155G p.H52R 0.848442 0.9127 0.891512 0.9046 0.9133 0.79 T 0.0 P -0.990 T 0.0 T 0.003 T Pathogenic 19_58864867_A->G 19 58864867 58864867 A G snp 1799.77 1/1 99 67 0 67 1.0 ncRNA_intronic rs2375470 A1BG-AS1 AU 0.86262 0.9147 0.915243 Uncertain 19_58864879_-->G 19 58864879 58864879 - G indel 1976.73 1/1 99 57 0 57 1.0 ncRNA_intronic rs3833872 A1BG-AS1 AU 0.861022 0.9127 0.902782 Uncertain 19_58869180_C->A 19 58869180 58869180 C A snp 873.77 1/1 66 22 0 22 1.0 intronic rs12461352 ZNF497 AU NM_198458 exon1 c.1511+165C>A 0.429712 0.7252 Uncertain 19_58870003_-->GAG 19 58870003 58870003 - GAG indel 3505.73 1/1 99 60 0 60 1.0 intronic rs10692126 ZNF497 AU NM_198458 exon2 c.2447+52insGAG 0.445288 0.7242 Uncertain 19_58870088_G->- 19 58870088 58870088 G - indel 7853.73 1/1 99 188 0 188 1.0 intronic rs11332731 ZNF497 AU NM_198458 exon2 c.2447+137delG 0.43131 0.7252 0.4916 0.7525 Uncertain 19_58871130_C->G 19 58871130 58871130 C G snp 349.78 1/1 27 9 0 9 1.0 intronic rs6510138 ZNF497 AU NM_198458 exon2 c.2447+1179C>G 0.440096 0.7252 Uncertain 19_58879660_T->C 19 58879660 58879660 T C snp 487.77 0/1 99 40 22 18 0.45 exonic rs61746138 ZNF837 AU nonsynonymous SNV NM_138466 exon3 c.A1040G p.Y347C 0.149561 0.3393 0.1168 0.3846 0.03 T 0.0 P -0.909 T 0.0 T 0.0 T Pathogenic 19_58879701_C->G 19 58879701 58879701 C G snp 516.77 0/1 99 58 38 20 0.34 exonic rs61746129 ZNF837 AU synonymous SNV NM_138466 exon3 c.G999C p.A333A 0.152157 0.3393 0.1192 0.3833 Uncertain 19_58879965_A->G 19 58879965 58879965 A G snp 2742.77 1/1 99 100 1 99 0.99 exonic rs7255489 ZNF837 AU synonymous SNV NM_138466 exon3 c.T735C p.S245S 0.881589 0.9137 0.8935 0.9242 Uncertain 19_58879976_C->T 19 58879976 58879976 C T snp 2657.77 1/1 99 93 0 93 1.0 exonic rs7255596 ZNF837 AU nonsynonymous SNV NM_138466 exon3 c.G724A p.A242T 0.881589 0.9137 0.933657 0.8921 0.9221 1 T 0.0 P -1.018 T 0.0 T 0.0 T Pathogenic 19_58880016_G->C 19 58880016 58880016 G C snp 737.77 0/1 99 67 38 29 0.43 exonic rs7255916 ZNF837 AU synonymous SNV NM_138466 exon3 c.C684G p.A228A 0.119409 0.3393 0.0817 0.4270 Uncertain 19_58880184_T->C 19 58880184 58880184 T C snp 641.77 0/1 99 50 23 27 0.54 exonic rs7256809 ZNF837 AU synonymous SNV NM_138466 exon3 c.A516G p.P172P 0.14996 0.3413 0.0905 0.4060 Uncertain 19_58880242_T->C 19 58880242 58880242 T C snp 832.77 0/1 99 68 32 36 0.53 exonic rs7256940 ZNF837 AU nonsynonymous SNV NM_138466 exon3 c.A458G p.Q153R 0.15016 0.3423 0.082567 0.0895 0.3986 0.65 T 0.0 P -0.900 T 0.0 T 0.001 T Pathogenic 19_58880761_G->A 19 58880761 58880761 G A snp 667.77 0/1 99 65 35 30 0.46 intronic rs62116383 ZNF837 AU NM_138466 exon1 c.1625+33G>A 0.14976 0.3393 Uncertain 19_58880848_G->C 19 58880848 58880848 G C snp 108.77 0/1 99 17 10 7 0.41 intronic rs72629171 ZNF837 AU NM_138466 exon1 c.1625+120G>C 0.14976 0.3393 Uncertain 19_58898193_C->T 19 58898193 58898193 C T snp 706.77 0/1 99 61 32 29 0.48 ncRNA_exonic rs975947 MIR4754 AU 0.313898 0.3889 0.6 . Uncertain 19_58899466_A->G 19 58899466 58899466 A G snp 74.77 0/1 69 5 2 3 0.6 intronic rs1529958 RPS5 AU 0.528355 0.5188 0.498000 0.4941 0.5703 Uncertain 19_58904396_G->A 19 58904396 58904396 G A snp 2140.77 0/1 99 209 120 89 0.43 exonic rs10853905 RPS5 AU synonymous SNV NM_001009 exon3 c.G162A p.G54G 0.134585 0.3462 0.066046 0.1111 0.3696 Uncertain 19_58904715_C->T 19 58904715 58904715 C T snp 853.77 0/1 99 48 21 27 0.56 intronic rs2289143 RPS5 AU NM_001009 exon4 c.5221-10C>T 0.150559 0.3492 0.120329 0.1643 0.3422 Uncertain 19_58906163_T->C 19 58906163 58906163 T C snp 394.77 0/1 99 18 4 14 0.78 UTR3 rs2241787 RPS5 AU 0.478435 0.5268 0.447793 0.4421 0.5451 Uncertain 19_58907443_C->G 19 58907443 58907443 C G snp 40.77 0/1 33 3 1 2 0.67 upstream rs12611212 RNF225 AU 0.545128 0.5873 0.5674 0.6091 Uncertain 19_58908150_C->G 19 58908150 58908150 C G snp 3170.77 1/1 99 119 0 119 1.0 exonic rs13343526 RNF225 AU nonsynonymous SNV NM_001195135 exon1 c.C694G p.P232A 0.855032 0.9117 0.8240 0.9077 Pathogenic 19_58920105_CGGGAGTTC->- 19 58920105 58920113 CGGGAGTTC - indel 2257.73 0/1 99 35 14 21 0.6 UTR5 rs145105239 ZNF584 AU 0.210663 0.2639 Uncertain 19_58920702_A->G 19 58920702 58920702 A G snp 77.77 0/1 99 7 4 3 0.43 intronic rs4801584 ZNF584 AU NM_173548 exon1 c.18+170A>G 0.179313 0.2679 Uncertain 19_58928302_T->C 19 58928302 58928302 T C snp 1084.77 0/1 99 107 58 49 0.46 exonic rs10423138 ZNF584 AU synonymous SNV NM_173548 exon4 c.T417C p.A139A 0.500599 0.3254 0.578887 0.4672 0.3198 Uncertain 19_58928786_A->G 19 58928786 58928786 A G snp 784.77 0/1 99 82 49 33 0.4 exonic rs7257872 ZNF584 AU nonsynonymous SNV NM_173548 exon4 c.A901G p.T301A 0.290935 0.2708 0.332462 0.2603 0.2588 0.16 T 0.000 P -0.933 T 0.001 T 0.005 T Pathogenic 19_58929052_G->A 19 58929052 58929052 G A snp 1131.77 0/1 99 83 35 48 0.58 exonic rs3764535 ZNF584 AU synonymous SNV NM_173548 exon4 c.G1167A p.K389K 0.446885 0.3254 0.516761 0.4495 0.3199 Uncertain 19_58929136_G->A 19 58929136 58929136 G A snp 532.77 0/1 99 41 20 21 0.51 exonic rs3764534 ZNF584 AU synonymous SNV NM_173548 exon4 c.G1251A p.K417K 0.500599 0.3254 0.578502 0.4732 0.3200 Uncertain 19_58929194_A->G 19 58929194 58929194 A G snp 110.77 0/1 99 11 6 5 0.45 UTR3 rs3764533 ZNF584 AU 0.441094 0.3254 0.507768 0.4483 0.3185 Uncertain 19_58945962_C->T 19 58945962 58945962 C T snp 4305.77 1/1 99 148 1 147 0.99 exonic rs9941466 ZNF132 AU synonymous SNV NM_003433 exon3 c.G849A p.K283K 0.955671 0.9722 0.960627 0.9453 0.9807 Uncertain 19_58946056_G->A 19 58946056 58946056 G A snp 2155.77 0/1 99 187 93 94 0.5 exonic rs1465789 ZNF132 AU nonsynonymous SNV NM_003433 exon3 c.C755T p.P252L 0.500599 0.3264 0.575657 0.4666 0.3201 0.46 T 0.0 P -1.068 T 0.0 T 0.0 T Pathogenic 19_58951123_T->C 19 58951123 58951123 T C snp 1388.77 0/1 99 159 97 62 0.39 splicing rs7259841 ZNF132 AU NM_003433 exon3 c.6436-2T>C 0.538738 0.4851 0.586308 0.5075 0.5287 Pathogenic 19_58962958_C->T 19 58962958 58962958 C T snp 1786.77 0/1 99 192 106 86 0.45 upstream rs893188 ZNF324B AU 0.218251 0.4236 0.226718 0.2533 0.4204 Uncertain 19_58963018_C->G 19 58963018 58963018 C G snp 1293.77 0/1 99 143 83 60 0.42 UTR5 rs893187 ZNF324B AU 0.180711 0.2659 0.225323 0.2334 0.2547 Uncertain 19_58966644_A->T 19 58966644 58966644 A T snp 1250.77 0/1 99 106 54 52 0.49 exonic rs60037165 ZNF324B AU synonymous SNV NM_207395 exon4 c.A333T p.P111P 0.128594 0.2579 0.134246 0.1584 0.2396 Uncertain 19_58982044_C->T 19 58982044 58982044 C T snp 3891.77 1/1 99 127 0 127 1.0 intronic rs28444973 ZNF324 AU NM_014347 exon4 c.1545-53C>T 0.135583 0.3621 0.1180 0.3923 0.01 T 0.0 P -0.993 T Uncertain 19_58982384_A->G 19 58982384 58982384 A G snp 6885.77 1/1 99 250 0 250 1.0 exonic rs10418774 ZNF324 AU synonymous SNV NM_014347 exon4 c.A525G p.R175R 0.999601 0.998 0.9999 0.9984 Uncertain 19_58989495_A->C 19 58989495 58989495 A C snp 936.77 0/1 99 76 34 42 0.55 exonic rs893185 ZNF446 AU nonsynonymous SNV NM_001304453 exon3 c.A574C p.N192H 0.440296 0.3175 0.511687 0.4349 0.3097 0.44 T 0.0 P -1.078 T 0.0 T 0.0 T Pathogenic 19_58992116_C->T 19 58992116 58992116 C T snp 1324.77 0/1 99 134 71 63 0.47 UTR3 rs201374214 ZNF446 AU 0.000798722 0.003 0.000079 0.0001 0.0011 Uncertain 19_59010593_A->G 19 59010593 59010593 A G snp 5890.77 1/1 99 209 0 209 1.0 splicing rs4801274 SLC27A5 AU NM_012254 exon3 c.706+6A>G 0.852436 0.8929 0.893972 0.8982 0.9199 Pathogenic 19_59021049_A->G 19 59021049 59021049 A G snp 54.74 1/1 6 2 0 2 1.0 intronic rs4801275 SLC27A5 AU NM_012254 exon8 c.11332-164A>G 0.858626 0.8938 Uncertain 19_59025685_A->C 19 59025685 59025685 A C snp 2237.77 1/1 99 73 0 73 1.0 intronic rs4801602 ZBTB45 AU NM_032792 exon1 c.257+8A>C 0.871206 0.8948 0.915303 0.9185 0.9195 Uncertain 19_59059729_G->A 19 59059729 59059729 G A snp 2976.77 0/1 99 208 89 119 0.57 exonic rs2305120 TRIM28 AU synonymous SNV NM_005762 exon8 c.G1170A p.K390K 0.13738 0.3135 0.068584 0.1039 0.3357 Uncertain 19_59073484_C->G 19 59073484 59073484 C G snp 1479.77 0/1 99 125 65 60 0.48 exonic rs200117940 MZF1 AU nonsynonymous SNV NM_003422 exon6 c.G2160C p.Q720H 0.000399361 0.002 0.0008 0.0136 0.2 T 0.883 N -1.062 T 0.009 T 0.003 T Pathogenic 19_59082605_C->T 19 59082605 59082605 C T snp 2012.77 0/1 99 196 114 82 0.42 exonic rs3752109 MZF1 AU nonsynonymous SNV NM_001267033 exon2 c.G152A p.R51H 0.207069 0.2996 0.218625 0.2572 0.3106 0.0 P -0.921 T 0.002 T 0.002 T Pathogenic 20_76962_T->C 20 76962 76962 T C snp 2911.77 0/1 99 248 127 121 0.49 exonic rs6111385 DEFB125 AU synonymous SNV NM_153325 exon2 c.T375C p.S125S 0.773363 0.7133 0.814932 0.7862 0.6921 Uncertain 20_123164_G->T 20 123164 123164 G T snp 1061.77 0/1 99 99 55 44 0.44 upstream rs45556640 DEFB126 AU 0.0119808 0.0575 Uncertain 20_126149_T->C 20 126149 126149 T C snp 2893.77 0/1 99 249 133 116 0.47 exonic rs75442118 DEFB126 AU nonsynonymous SNV NM_030931 exon2 c.T152C p.M51T 0.0413339 0.0645 0.021759 0.0315 0.0794 0.28 T 1 N -1.063 T 0.022 T 0.032 T Pathogenic 20_126213_T->C 20 126213 126213 T C snp 3438.77 0/1 99 249 124 125 0.5 exonic rs77783981 DEFB126 AU synonymous SNV NM_030931 exon2 c.T216C p.C72C 0.0189696 0.0556 0.006074 0.0072 0.0627 Uncertain 20_126224_A->G 20 126224 126224 A G snp 3657.77 0/1 99 250 120 130 0.52 exonic rs74717966 DEFB126 AU nonsynonymous SNV NM_030931 exon2 c.A227G p.K76R 0.0133786 0.0635 0.000077 0.0068 0.0789 0.28 T 1 N -1.084 T 0.898 T 0.433 P Pathogenic 20_126285_T->C 20 126285 126285 T C snp 3208.76 0/1 99 248 130 118 0.48 exonic rs77106211 DEFB126 AU synonymous SNV NM_030931 exon2 c.T288C p.T96T 0.0161741 0.0635 0.002076 0.0076 0.0790 Uncertain 20_126311_CC->- 20 126311 126312 CC - indel 4537.73 0/1 99 242 130 112 0.46 exonic rs11467417 DEFB126 AU frameshift deletion NM_030931 exon2 c.314_315del p.T105fs 0.5534 0.5055 ID=COSM1413284;OCCURENCE=35(large_intestine),4(upper_aerodigestive_tract) Pathogenic 20_138004_G->C 20 138004 138004 G C snp 180.9 1/1 15 5 0 5 1.0 upstream rs6055356 DEFB127 AU 0.926318 1 Uncertain 20_138125_G->T 20 138125 138125 G T snp 334.77 0/1 99 40 23 17 0.42 UTR5 rs2298108 DEFB127 AU 0.330471 0.5407 0.284713 Uncertain 20_138148_C->T 20 138148 138148 C T snp 403.77 0/1 99 46 26 20 0.43 UTR5 rs2298109 DEFB127 AU 0.332867 0.5407 0.272028 0.3624 0.5197 Uncertain 20_139362_G->A 20 139362 139362 G A snp 217.77 0/1 99 17 9 8 0.47 intronic rs6055460 DEFB127 AU NM_139074 exon2 c.1229-52G>A 0.552915 0.4593 Uncertain 20_139409_G->A 20 139409 139409 G A snp 1168.77 0/1 99 90 47 43 0.48 splicing rs12624951 DEFB127 AU NM_139074 exon2 c.1229-5G>A 0.324281 0.5446 0.262264 0.3635 0.5211 Pathogenic 20_139419_C->T 20 139419 139419 C T snp 1419.77 0/1 99 113 59 54 0.48 exonic rs16995668 DEFB127 AU synonymous SNV NM_139074 exon2 c.C54T p.T18T 0.014976 0.0645 0.001384 0.0070 0.0774 Uncertain 20_139456_G->A 20 139456 139456 G A snp 2313.77 0/1 99 200 98 102 0.51 exonic rs12624954 DEFB127 AU nonsynonymous SNV NM_139074 exon2 c.G91A p.G31R 0.324281 0.5446 0.262802 0.3603 0.5218 0.05 T 0.0 P -0.908 T 1.0 D 1.0 D Pathogenic 20_139576_C->A 20 139576 139576 C A snp 2557.77 0/1 99 244 136 108 0.44 exonic rs16995685 DEFB127 AU nonsynonymous SNV NM_139074 exon2 c.C211A p.R71S 0.324081 0.5407 0.263648 0.3608 0.5188 0.33 T 0.0 P -0.926 T 0.057 T 0.028 T Pathogenic 20_139745_T->C 20 139745 139745 T C snp 596.77 1/1 45 16 0 16 1.0 UTR3 rs4142304 DEFB127 AU 0.928514 1 Uncertain 20_168728_T->A 20 168728 168728 T A snp 1664.77 0/1 99 120 51 69 0.57 exonic rs4813043 DEFB128 AU nonsynonymous SNV NM_001037732 exon2 c.A81T p.K27N 0.610423 0.4554 0.645856 0.5851 0.4804 1 T 0.0 P -0.995 T 0.0 T 0.0 T Pathogenic 20_208168_T->C 20 208168 208168 T C snp 127.77 0/1 99 22 15 7 0.32 intronic rs6110460 DEFB129 AU NM_080831 exon1 c.58+181T>C 0.592452 0.5675 Uncertain 20_210225_C->T 20 210225 210225 C T snp 2589.77 0/1 99 244 124 120 0.49 exonic rs79468308 DEFB129 AU nonsynonymous SNV NM_080831 exon2 c.C365T p.A122V 0.0141773 0.0694 0.000154 0.0057 0.0742 0.02 T 1 N -1.023 T 0.027 T 0.009 T Pathogenic 20_238436_TGGTCT->- 20 238436 238441 TGGTCT - indel 8364.73 1/1 99 103 0 103 1.0 exonic rs371825938 DEFB132 AU nonframeshift deletion NM_207469 exon1 c.17_22del p.6_8del 0.5892 0.6749 ID=COSM1163662;OCCURENCE=1(liver),1(pancreas),2(large_intestine) Uncertain 20_238507_A->C 20 238507 238507 A C snp 1953.77 1/1 99 73 0 73 1.0 intronic rs373225 DEFB132 AU NM_207469 exon1 c.58+30A>C 0.461062 0.6389 0.461556 0.5327 0.6787 Uncertain 20_238530_T->G 20 238530 238530 T G snp 1724.77 1/1 99 61 0 61 1.0 intronic rs412143 DEFB132 AU NM_207469 exon1 c.58+53T>G 0.667732 0.6607 0.653088 Uncertain 20_238540_C->T 20 238540 238540 C T snp 1480.77 1/1 99 56 0 56 1.0 intronic rs416360 DEFB132 AU NM_207469 exon1 c.58+63C>T 0.628594 0.6687 0.615856 Uncertain 20_239664_T->C 20 239664 239664 T C snp 477.77 1/1 36 17 0 17 1.0 intronic rs420525 DEFB132 AU NM_207469 exon2 c.1298-53T>C 0.627396 0.6458 Uncertain 20_239688_G->A 20 239688 239688 G A snp 703.77 1/1 51 26 0 26 1.0 intronic rs399083 DEFB132 AU NM_207469 exon2 c.1298-29G>A 0.589856 0.6458 0.603721 0.5952 0.6791 Uncertain 20_239697_G->C 20 239697 239697 G C snp 791.77 1/1 57 27 0 27 1.0 intronic rs399094 DEFB132 AU NM_207469 exon2 c.1298-20G>C 0.632588 0.6458 0.646240 0.6076 0.6795 Uncertain 20_256573_A->G 20 256573 256573 A G snp 1061.77 0/1 99 96 47 49 0.51 intronic rs6075567 C20orf96 AU NM_080571 exon2 c.4761-35A>G 0.46885 0.5139 0.498693 0.4678 0.5234 Uncertain 20_256727_T->A 20 256727 256727 T A snp 1772.77 1/1 99 64 0 64 1.0 exonic rs3827147 C20orf96 AU nonsynonymous SNV NM_080571 exon10 c.A910T p.I304F 0.635184 0.6935 0.654467 0.6024 0.7097 0.35 T 0.702 P -0.989 T 0.0 T 0.0 T Pathogenic 20_257320_G->A 20 257320 257320 G A snp 473.77 0/1 99 33 16 17 0.52 intronic rs2277779 C20orf96 AU NM_080571 exon3 c.5586-113G>A 0.450879 0.5 Uncertain 20_257733_A->G 20 257733 257733 A G snp 4193.77 1/1 99 149 0 149 1.0 exonic rs2277781 C20orf96 AU synonymous SNV NM_080571 exon8 c.T774C p.S258S 0.647165 0.6935 0.675765 0.6197 0.7099 Uncertain 20_257803_G->C 20 257803 257803 G C snp 2130.77 0/1 99 156 73 83 0.53 intronic rs6075583 C20orf96 AU NM_080571 exon4 c.5939+17G>C 0.195487 0.3452 0.237198 0.2773 0.3791 Uncertain 20_257812_T->C 20 257812 257812 T C snp 4351.77 1/1 99 147 0 147 1.0 intronic rs6046375 C20orf96 AU NM_080571 exon4 c.5939+26T>C 0.677516 0.6935 0.704982 0.6240 0.7123 Uncertain 20_258820_T->C 20 258820 258820 T C snp 576.77 0/1 99 41 22 19 0.46 intronic rs8117412 C20orf96 AU NM_080571 exon6 c.7123-150T>C 0.152157 0.1925 Uncertain 20_258865_A->G 20 258865 258865 A G snp 3072.77 1/1 99 105 0 105 1.0 intronic rs6046492 C20orf96 AU NM_080571 exon6 c.7123-105A>G 0.691893 0.6944 Uncertain 20_259156_G->A 20 259156 259156 G A snp 98.77 0/1 99 11 7 4 0.36 intronic rs6035505 C20orf96 AU NM_080571 exon6 c.7223+86G>A 0.291733 0.3542 Uncertain 20_259750_A->C 20 259750 259750 A C snp 31.77 0/1 60 24 20 4 0.17 intronic rs113665331 C20orf96 AU NM_080571 exon7 c.7965-62A>C Uncertain 20_259755_G->C 20 259755 259755 G C snp 99.77 0/1 99 28 23 5 0.18 intronic rs531754003 C20orf96 AU NM_080571 exon7 c.7965-57G>C Uncertain 20_259767_GGTT->- 20 259767 259770 GGTT - indel 476.73 0/1 99 34 25 9 0.26 intronic rs549247440 C20orf96 AU NM_080571 exon7 c.7965-45_7965-42delGGTT 0.180112 0.1756 0 0 Uncertain 20_259775_C->G 20 259775 259775 C G snp 232.77 0/1 99 39 30 9 0.23 intronic rs113350880 C20orf96 AU NM_080571 exon7 c.7965-37C>G 0.209065 0.1895 0 0 Uncertain 20_259778_A->C 20 259778 259778 A C snp 303.77 0/1 99 45 33 12 0.27 intronic rs143741607 C20orf96 AU NM_080571 exon7 c.7965-34A>C 0.186901 0.1845 3.327e-05 0 Uncertain 20_259969_G->C 20 259969 259969 G C snp 4604.77 1/1 99 165 0 165 1.0 exonic rs7271033 C20orf96 AU synonymous SNV NM_080571 exon5 c.C306G p.T102T 0.66853 0.7897 0.637014 0.5762 0.8125 Uncertain 20_264472_G->A 20 264472 264472 G A snp 358.28 0/1 9 12 1 11 0.92 intronic rs41279018 C20orf96 AU NM_080571 exon8 c.12756-131G>A 0.176118 0.2232 Uncertain 20_264498_A->C 20 264498 264498 A C snp 49.77 0/1 78 20 16 4 0.2 intronic rs6137055 C20orf96 AU NM_080571 exon8 c.12756-105A>C 0.194489 0.3502 Uncertain 20_264756_G->C 20 264756 264756 G C snp 733.77 0/1 99 56 29 27 0.48 intronic rs537291696 C20orf96 AU NM_080571 exon8 c.12875+34G>C 0.000199681 0.001 1.65e-05 0.0002 Uncertain 20_270415_C->- 20 270415 270415 C - indel 1112.73 0/1 99 73 37 36 0.49 intronic rs11478105 C20orf96 AU NM_080571 exon9 c.18470+98delC 0.380391 0.4861 Uncertain 20_270428_C->T 20 270428 270428 C T snp 1481.77 1/1 99 51 0 51 1.0 intronic rs6035784 C20orf96 AU NM_080571 exon9 c.18470+111C>T 0.678115 0.6994 Uncertain 20_271135_-->C 20 271135 271135 - C indel 511.73 0/1 99 30 14 16 0.53 intronic rs3215551 C20orf96 AU NM_080571 exon11 c.19380-92insC 0.715256 0.6131 Uncertain 20_271168_G->C 20 271168 271168 G C snp 509.77 0/1 99 32 16 16 0.5 intronic rs7263309 C20orf96 AU NM_080571 exon11 c.19380-59G>C 0.153554 0.1915 0.123522 Uncertain 20_271225_T->A 20 271225 271225 T A snp 251.77 0/1 99 73 53 20 0.27 splicing rs111238388 C20orf96 AU NM_080571 exon11 c.19380-2T>A 0.0097 0.0073 Pathogenic 20_278515_T->C 20 278515 278515 T C snp 210.77 0/1 99 27 18 9 0.33 exonic rs2223665 ZCCHC3 AU synonymous SNV NM_033089 exon1 c.T288C p.D96D 0.588858 0.375 0.6522 . Uncertain 20_278688_CGG->- 20 278688 278690 CGG - indel 3057.73 1/1 99 62 0 62 1.0 exonic rs11468351 ZCCHC3 AU nonframeshift deletion NM_033089 exon1 c.461_463del p.154_155del 0.865615 0.8065 0.8900 0.8125 ID=COSM248430;OCCURENCE=1(skin),2(prostate),1(large_intestine) Uncertain 20_278806_C->T 20 278806 278806 C T snp 2731.77 0/1 99 248 126 122 0.49 exonic rs1057189 ZCCHC3 AU synonymous SNV NM_033089 exon1 c.C579T p.S193S 0.170327 0.3294 0.206657 0.2523 0.3497 Uncertain 20_278848_C->T 20 278848 278848 C T snp 3275.77 0/1 99 250 117 133 0.53 exonic rs149631474 ZCCHC3 AU synonymous SNV NM_033089 exon1 c.C621T p.I207I 0.00678914 0.0308 0.0019 0.0183 Uncertain 20_279483_T->C 20 279483 279483 T C snp 4274.77 1/1 99 161 0 161 1.0 UTR3 rs1046560 ZCCHC3 AU 0.446685 0.6617 0.413506 0.4457 0.6621 Uncertain 20_334318_C->- 20 334318 334318 C - indel 8748.73 1/1 99 243 0 243 1.0 UTR3 rs398088195 NRSN2 AU 0.918131 0.999 0.8743 0.9994 Uncertain 20_371972_T->C 20 371972 371972 T C snp 2649.77 1/1 99 95 0 95 1.0 exonic rs6051637 TRIB3 AU synonymous SNV NM_021158 exon3 c.T333C p.Y111Y 0.718251 0.7212 0.649592 0.6356 0.7515 Uncertain 20_376857_G->A 20 376857 376857 G A snp 1205.77 0/1 99 101 50 51 0.5 exonic rs11537605 TRIB3 AU synonymous SNV NM_021158 exon4 c.G600A p.L200L 0.0499201 0.1161 0.021221 0.0200 0.1283 Uncertain 20_377226_C->T 20 377226 377226 C T snp 1987.77 0/1 99 167 90 77 0.46 exonic rs6115830 TRIB3 AU synonymous SNV NM_021158 exon4 c.C969T p.A323A 0.396166 0.3125 0.438453 0.4151 0.3187 Uncertain 20_397928_C->T 20 397928 397928 C T snp 1073.77 1/1 78 40 0 40 1.0 intronic rs6115906 RBCK1 AR NM_006462 exon2 c.8787-241C>T 0.776757 0.7242 0.815624 0.8206 0.7332 0.09 T 0.000 P -1.033 T Uncertain 20_402710_A->G 20 402710 402710 A G snp 992.77 0/1 99 67 30 37 0.55 intronic rs2057251 RBCK1 AR NM_006462 exon7 c.13388-60A>G 0.658546 0.5486 Uncertain 20_402921_C->G 20 402921 402921 C G snp 1094.77 0/1 99 114 68 46 0.4 intronic rs6051905 RBCK1 AR NM_006462 exon7 c.13500+39C>G 0.327077 0.4325 0.340074 0.3322 0.4170 Uncertain 20_409802_T->C 20 409802 409802 T C snp 477.77 0/1 99 51 32 19 0.37 intronic rs6051957 RBCK1 AR NM_006462 exon10 c.20356+64T>C 0.11242 0.0992 Uncertain 20_425839_C->T 20 425839 425839 C T snp 879.77 0/1 99 65 28 37 0.57 intronic rs76459812 TBC1D20 AR NM_144628 exon6 c.6545+65C>T 0.038139 0.0952 Uncertain 20_428767_A->C 20 428767 428767 A C snp 1240.77 0/1 99 109 54 55 0.5 intronic rs6139203 TBC1D20 AR NM_144628 exon7 c.9489+49A>C 0.469848 0.2748 0.481701 0.4441 0.2391 Uncertain 20_467283_G->C 20 467283 467283 G C snp 222.84 1/1 18 6 0 6 1.0 intronic rs409994 CSNK2A1 AD NM_177560 exon2 c.2502+177G>C 0.426518 0.6597 Uncertain 20_470347_G->A 20 470347 470347 G A snp 96.28 1/1 9 3 0 3 1.0 intronic rs143151461 CSNK2A1 AD NM_177560 exon5 c.5819-76G>A 0.00379393 0.0169 Uncertain 20_476285_C->T 20 476285 476285 C T snp 2126.77 1/1 99 66 0 66 1.0 intronic rs157816 CSNK2A1 AD NM_177560 exon7 c.11758-77C>T 0.499002 0.6806 Uncertain 20_480620_A->T 20 480620 480620 A T snp 328.77 0/1 51 18 3 15 0.83 intronic rs205904 CSNK2A1 AD NM_177560 exon10 c.15974+42A>T 0.410942 0.6518 0.3667 0.6050 Uncertain 20_488930_C->T 20 488930 488930 C T snp 2710.77 1/1 99 86 0 86 1.0 intronic rs74119 CSNK2A1 AD NM_177559 exon12 c.24490-164C>T 0.864816 0.9931 Uncertain 20_590294_C->G 20 590294 590294 C G snp 506.77 0/1 99 36 15 21 0.58 intronic rs141382158 TCF15 AU NM_004609 exon2 c.5122-62C>G 0.0648962 0.0218 Uncertain 20_590297_A->G 20 590297 590297 A G snp 497.77 0/1 99 37 16 21 0.57 intronic rs143851183 TCF15 AU NM_004609 exon2 c.5122-59A>G 0.0648962 0.0218 Uncertain 20_590456_A->G 20 590456 590456 A G snp 2569.77 1/1 99 95 0 95 1.0 exonic rs282164 TCF15 AU synonymous SNV NM_004609 exon1 c.T426C p.R142R 0.862021 0.998 0.785146 0.8370 0.9998 Uncertain 20_590542_C->G 20 590542 590542 C G snp 2755.77 1/1 99 101 0 101 1.0 exonic rs2754502 TCF15 AU nonsynonymous SNV NM_004609 exon1 c.G340C p.V114L 0.994808 0.9841 1 1 1 T 0.003 P -0.923 T 0.0 T 0.0 T Pathogenic 20_590543_G->C 20 590543 590543 G C snp 2725.77 1/1 99 101 0 101 1.0 exonic rs2665781 TCF15 AU synonymous SNV NM_004609 exon1 c.C339G p.T113T 0.995407 0.9841 1 1 Uncertain 20_590900_T->C 20 590900 590900 T C snp 1041.77 1/1 75 37 0 37 1.0 UTR5 rs183989 TCF15 AU 0.746605 0.9216 0.8333 . Uncertain 20_633599_C->T 20 633599 633599 C T snp 1197.77 0/1 99 113 60 53 0.47 intronic rs118027450 SRXN1 AU NM_080725 exon2 c.4262-20C>T 0.048722 0.0248 0.006341 0.0846 0.0521 Uncertain 20_656057_C->T 20 656057 656057 C T snp 333.78 1/1 27 12 0 12 1.0 intronic rs6053839 SCRT2 AU NM_033129 exon2 c.11798-55C>T 0.286941 0.3611 Uncertain 20_741654_G->- 20 741654 741654 G - indel 1007.73 0/1 99 55 24 31 0.56 UTR3 rs3215628 SLC52A3 AR 0.096610 0.2186 0.4669 Uncertain 20_742237_G->A 20 742237 742237 G A snp 184.77 0/1 99 11 4 7 0.64 intronic rs3746801 SLC52A3 AR NM_033409 exon2 c.675-107G>A 0.529952 0.6359 Uncertain 20_742239_T->C 20 742239 742239 T C snp 396.77 1/1 30 11 0 11 1.0 intronic rs6054589 SLC52A3 AR NM_033409 exon2 c.675-105T>C 0.903954 0.997 Uncertain 20_742631_A->G 20 742631 742631 A G snp 68.77 0/1 97 9 6 3 0.33 intronic rs873970 SLC52A3 AR NM_033409 exon2 c.799+163A>G 0.545927 0.4335 Uncertain 20_744450_G->A 20 744450 744450 G A snp 1758.77 0/1 99 142 65 77 0.54 exonic rs3746805 SLC52A3 AR synonymous SNV NM_033409 exon3 c.C765T p.L255L 0.308706 0.124 0.375211 0.4312 0.1467 Uncertain 20_744570_G->A 20 744570 744570 G A snp 640.77 0/1 99 68 41 27 0.4 exonic rs6054605 SLC52A3 AR synonymous SNV NM_033409 exon3 c.C645T p.P215P 0.138179 0.4534 0.048901 0.0877 0.4621 Uncertain 20_746098_G->A 20 746098 746098 G A snp 1364.77 0/1 99 130 73 57 0.44 exonic rs3746808 SLC52A3 AR synonymous SNV NM_033409 exon2 c.C321T p.A107A 0.25639 0.2014 0.255651 0.3578 0.2759 Uncertain 20_825678_T->C 20 825678 825678 T C snp 5400.77 1/1 99 184 0 184 1.0 exonic rs538094 FAM110A AU synonymous SNV NM_031424 exon1 c.T231C p.F77F 0.82508 0.8829 0.837915 0.8595 0.8893 Uncertain 20_826140_C->A 20 826140 826140 C A snp 1776.77 0/1 99 157 84 73 0.46 exonic rs141475072 FAM110A AU synonymous SNV NM_031424 exon1 c.C693A p.I231I 0.00219649 0.0099 0.000154 0.0014 0.0159 Uncertain 20_826513_C->G 20 826513 826513 C G snp 324.78 1/1 27 9 0 9 1.0 UTR3 rs2282051 FAM110A AU 0.151358 0.1915 Uncertain 20_854754_A->G 20 854754 854754 A G snp 463.77 1/1 36 12 0 12 1.0 intronic rs944109 ANGPT4 AU NM_015985 exon2 c.1324-172A>G 0.594249 0.6895 Uncertain 20_854940_T->C 20 854940 854940 T C snp 3101.77 1/1 99 109 0 109 1.0 exonic rs944110 ANGPT4 AU synonymous SNV NM_015985 exon8 c.A1338G p.Q446Q 0.512979 0.6905 0.390897 0.4242 0.6947 Uncertain 20_865665_C->- 20 865665 865665 C - indel 2785.73 1/1 99 74 1 73 0.99 intronic rs398081184 ANGPT4 AU NM_015985 exon6 c.12118-55delC 0.223842 0.4653 Uncertain 20_982846_C->T 20 982846 982846 C T snp 507.77 0/1 99 76 49 27 0.36 UTR5 rs560184549 RSPO4 AR 0.000599042 0.003 0.0007 0 Uncertain 20_982892_G->A 20 982892 982892 G A snp 625.77 0/1 99 31 9 22 0.71 UTR5 rs6056520 RSPO4 AR 0.346246 0.4325 Uncertain 20_1099329_A->G 20 1099329 1099329 A G snp 512.77 1/1 39 14 0 14 1.0 UTR5 rs2072962 PSMF1 AU 0.726438 0.4623 Uncertain 20_1099523_T->G 20 1099523 1099523 T G snp 6759.77 1/1 99 249 2 247 0.99 exonic rs1803415 PSMF1 AU nonsynonymous SNV NM_006814 exon1 c.T107G p.F36C 0.729832 0.4583 0.823235 0.7856 0.4701 0.11 T 1.000 P -1.057 T 0.0 T 0.002 T Pathogenic 20_1099666_G->C 20 1099666 1099666 G C snp 1656.77 1/1 99 46 0 46 1.0 intronic rs2072961 PSMF1 AU NM_006814 exon1 c.129+121G>C 0.730032 0.4593 Uncertain 20_1108262_C->G 20 1108262 1108262 C G snp 1137.77 1/1 84 29 0 29 1.0 intronic rs6040024 PSMF1 AU NM_006814 exon3 c.8735+111C>G 0.728035 0.4603 Uncertain 20_1115529_A->G 20 1115529 1115529 A G snp 4576.77 1/1 99 169 0 169 1.0 intronic rs4813939 PSMF1 AU NM_006814 exon4 c.16347-234A>G 0.977037 1 0.9800 1 Uncertain 20_1210647_T->C 20 1210647 1210647 T C snp 1281.77 0/1 99 92 39 53 0.58 exonic rs450739 RAD21L1 AU nonsynonymous SNV NM_001136566 exon3 c.T268C p.C90R 0.49401 0.2202 0.4992 0.2317 1 T 0.999 P -0.941 T 0.0 T 0.0 T ID=CM140047;DIS=Genome-wide recombination rate, association with;TAG=FP;PUB=24270358 FP Pathogenic 20_1214814_A->C 20 1214814 1214814 A C snp 642.77 0/1 99 56 27 29 0.52 exonic rs203534 RAD21L1 AU nonsynonymous SNV NM_001136566 exon5 c.A454C p.I152L 0.50619 0.2143 0.591308 0.5129 0.2311 1 T 0.000 P -0.945 T 0.0 T 0.0 T Pathogenic 20_1221038_T->C 20 1221038 1221038 T C snp 509.77 0/1 99 67 40 27 0.4 exonic rs16992733 RAD21L1 AU synonymous SNV NM_001136566 exon8 c.T816C p.T272T 0.0700879 0.1726 0.069329 0.0582 0.1774 Uncertain 20_1277157_G->C 20 1277157 1277157 G C snp 1479.77 1/1 99 43 0 43 1.0 intronic rs6109320 SNPH AU NM_014723 exon3 c.50+92G>C 0.630391 0.5764 Uncertain 20_1277690_C->T 20 1277690 1277690 C T snp 420.77 1/1 33 12 0 12 1.0 intronic rs2273955 SNPH AU NM_014723 exon4 c.773-98C>T 0.234824 0.4712 Uncertain 20_1280995_T->A 20 1280995 1280995 T A snp 48.74 1/1 6 2 0 2 1.0 intronic rs3795142 SNPH AU NM_014723 exon5 c.4190-210T>A 0.43151 0.5496 Uncertain 20_1281004_T->C 20 1281004 1281004 T C snp 56.74 1/1 6 2 0 2 1.0 intronic rs3795141 SNPH AU NM_014723 exon5 c.4190-201T>C 0.432109 0.5496 Uncertain 20_1281115_G->A 20 1281115 1281115 G A snp 719.77 0/1 99 70 42 28 0.4 intronic rs116904671 SNPH AU NM_014723 exon5 c.4190-90G>A 0.00519169 0.0258 Uncertain 20_1285933_G->A 20 1285933 1285933 G A snp 1597.77 0/1 99 145 69 76 0.52 exonic rs3795139 SNPH AU synonymous SNV NM_014723 exon6 c.G720A p.G240G 0.39397 0.5407 0.319658 0.3419 0.5540 Uncertain 20_1286711_T->C 20 1286711 1286711 T C snp 1494.77 1/1 99 50 0 50 1.0 UTR3 rs4813082 SNPH AU 0.991414 1 0.993472 0.9980 1 Uncertain 20_1291018_G->A 20 1291018 1291018 G A snp 117.77 0/1 99 14 7 7 0.5 ncRNA_exonic rs11449 FKBP1A-SDCBP2 AU 0.31869 0.4206 0.274978 Uncertain 20_1291076_G->C 20 1291076 1291076 G C snp 646.77 1/1 48 28 0 28 1.0 ncRNA_exonic rs1048628 FKBP1A-SDCBP2 AU 0.631789 0.9187 0.476780 0.5820 0.9188 Uncertain 20_1291393_A->G 20 1291393 1291393 A G snp 550.77 0/1 99 42 24 18 0.43 ncRNA_intronic rs2273956 FKBP1A-SDCBP2 AU 0.590655 0.4663 0.589036 0.5376 0.4730 Uncertain 20_1291739_T->C 20 1291739 1291739 T C snp 461.77 1/1 36 12 0 12 1.0 ncRNA_intronic rs6134536 FKBP1A-SDCBP2 AU 0.975439 1 Uncertain 20_1292845_C->T 20 1292845 1292845 C T snp 136.03 1/1 12 4 0 4 1.0 ncRNA_intronic rs3795137 FKBP1A-SDCBP2 AU 0.669928 0.9087 Uncertain 20_1292964_T->C 20 1292964 1292964 T C snp 4600.77 1/1 99 162 0 162 1.0 ncRNA_intronic rs4814110 FKBP1A-SDCBP2 AU 0.992612 1 0.992309 0.9975 0.9999 Uncertain 20_1293008_C->T 20 1293008 1293008 C T snp 7831.77 1/1 99 250 0 250 1.0 exonic rs2273958 SDCBP2 AU synonymous SNV NM_015685 exon3 c.G450A p.V150V 0.665335 0.9077 0.524300 0.6033 0.9038 Uncertain 20_1293536_A->G 20 1293536 1293536 A G snp 139.03 1/1 12 4 0 4 1.0 ncRNA_intronic rs2281711 FKBP1A-SDCBP2 AU 0.710863 0.9077 Uncertain 20_1298794_G->A 20 1298794 1298794 G A snp 2032.77 1/1 99 72 0 72 1.0 ncRNA_intronic rs6078610 FKBP1A-SDCBP2 AU 0.973243 1 0.9940 1 Uncertain 20_1300362_C->T 20 1300362 1300362 C T snp 504.77 0/1 99 29 10 19 0.66 ncRNA_intronic rs117325124 FKBP1A-SDCBP2 AU 0.00479233 0.0238 Uncertain 20_1300433_C->T 20 1300433 1300433 C T snp 79.77 0/1 65 6 2 4 0.67 ncRNA_intronic rs11087032 FKBP1A-SDCBP2 AU 0.336062 0.6607 Uncertain 20_1300456_C->T 20 1300456 1300456 C T snp 36.77 0/1 33 3 1 2 0.67 ncRNA_intronic rs6041386 FKBP1A-SDCBP2 AU 0.303714 0.6597 Uncertain 20_1350709_T->C 20 1350709 1350709 T C snp 2966.77 1/1 99 107 0 107 1.0 exonic rs8392 FKBP1A AU synonymous SNV NM_001199786 exon4 c.A258G p.P86P 0.343251 0.0883 0.3749 0.0837 Uncertain 20_1356261_G->C 20 1356261 1356261 G C snp 7467.77 1/1 99 250 0 250 1.0 ncRNA_intronic rs6074549 FKBP1A-SDCBP2 AU 0.987819 1 0.989620 0.9973 1 Uncertain 20_1424303_G->A 20 1424303 1424303 G A snp 989.77 1/1 72 33 0 33 1.0 UTR3 rs6891 NSFL1C AU 0.47504 0.7887 Uncertain 20_1426393_C->T 20 1426393 1426393 C T snp 1795.77 1/1 99 67 0 67 1.0 exonic rs9575 NSFL1C AU nonsynonymous SNV NM_018839 exon7 c.G775A p.D259N 0.466454 0.7887 0.364447 0.4466 0.7945 0.09 T 1.000 P -1.007 T 0.047 T 0.018 T Pathogenic 20_1435905_T->C 20 1435905 1435905 T C snp 1027.77 1/1 78 30 0 30 1.0 intronic rs6042377 NSFL1C AU NM_001206736 exon6 c.11386+126T>C 0.98742 1 Uncertain 20_1457045_T->G 20 1457045 1457045 T G snp 496.77 0/1 99 28 11 17 0.61 intronic rs6042499 SIRPB2 AU NM_001134836 exon1 c.170+64T>G 0.5625 0.7659 Uncertain 20_1457910_C->A 20 1457910 1457910 C A snp 2156.77 0/1 99 218 120 98 0.45 intronic rs6135048 SIRPB2 AU NM_001134836 exon2 c.1171-72C>A 0.30611 0.756 0.2106 0.7479 0.02 T 0.0 P -1.069 T 0.979 D 0.675 D Uncertain 20_1458159_A->G 20 1458159 1458159 A G snp 261.77 0/1 81 11 3 8 0.73 intronic rs6135050 SIRPB2 AU NM_001134836 exon2 c.1237+111A>G 0.30611 0.756 Uncertain 20_1459060_T->G 20 1459060 1459060 T G snp 4945.77 1/1 99 159 0 159 1.0 exonic rs6042507 SIRPB2 AU nonsynonymous SNV NM_001122962 exon3 c.A644C p.E215A 0.953075 0.996 0.913398 0.9150 0.9951 0.46 T 0.0 P -0.979 T 0.0 T 0.001 T Pathogenic 20_1460272_T->C 20 1460272 1460272 T C snp 580.77 0/1 99 35 16 19 0.54 intronic rs2873565 SIRPB2 AU NM_001122962 exon4 c.3533-72T>C 0.306709 0.756 Uncertain 20_1520883_T->C 20 1520883 1520883 T C snp 1615.77 0/1 99 114 48 66 0.58 intronic rs2256520 SIRPD AU NM_178460 exon2 c.2886+2927T>C 0.84345 0.7877 Uncertain 20_1532595_T->C 20 1532595 1532595 T C snp 3030.77 0/1 99 249 124 125 0.5 exonic rs2249317 SIRPD AU nonsynonymous SNV NM_178460 exon2 c.A163G p.N55D 0.842452 0.7857 0.870675 0.8378 0.8127 0.32 T 0.0 P -0.980 T 0.0 T 0.0 T Pathogenic 20_1546742_T->A 20 1546742 1546742 T A snp 2269.77 0/1 99 179 84 95 0.53 intronic rs2243602 SIRPB1 AU 0.694688 0.7847 Uncertain 20_1546911_C->G 20 1546911 1546911 C G snp 1621.77 0/1 99 139 74 65 0.47 exonic rs2243603 SIRPB1 AU nonsynonymous SNV NM_001083910 exon3 c.G436C p.A146P 0.808107 0.7887 0.817357 0.8062 0.8303 0.42 T 0.0 P -1.051 T 0.0 T 0.0 T Pathogenic 20_1551485_C->T 20 1551485 1551485 C T snp 2656.77 0/1 99 194 82 112 0.58 exonic rs2254458 SIRPB1 AU synonymous SNV NM_006065 exon4 c.G1050A p.A350A 0.751997 0.7917 0.704060 0.6798 0.8153 Uncertain 20_1552430_T->C 20 1552430 1552430 T C snp 2342.77 0/1 99 227 125 102 0.45 exonic rs2253427 SIRPB1 AU nonsynonymous SNV NM_006065 exon3 c.A687G p.I229M 0.824081 0.7937 0.826465 0.7913 0.8159 0.02 T 1.000 P -1.061 T 0.0 T 0.002 T Pathogenic 20_1559101_T->G 20 1559101 1559101 T G snp 873.77 0/1 99 70 42 28 0.4 exonic rs41275422 SIRPB1 AU nonsynonymous SNV NM_001083910 exon2 c.A316C p.S106R 0.307708 0.6409 0.134940 0.2350 0.6386 1 T 0.000 P -0.927 T 0.0 T 0.011 T Pathogenic 20_1592120_G->T 20 1592120 1592120 G T snp 70.77 0/1 99 37 32 5 0.14 exonic rs1135201 SIRPB1 AU nonsynonymous SNV NM_001135844 exon2 c.C316A p.R106S 0.1372 0.3455 0.19 T 0.743 D -0.969 T 0.323 T 0.137 T Pathogenic 20_1592139_G->T 20 1592139 1592139 G T snp 135.77 0/1 99 40 33 7 0.17 exonic rs149722469 SIRPB1 AU nonsynonymous SNV NM_001135844 exon2 c.C297A p.N99K 0.1473 0.3466 0.01 T 1.000 D -0.983 T 0.361 T 0.267 T Pathogenic 20_1592141_T->C 20 1592141 1592141 T C snp 140.77 0/1 99 40 33 7 0.17 exonic rs141518677 SIRPB1 AU nonsynonymous SNV NM_001135844 exon2 c.A295G p.N99D 0.1435 0.3346 0.11 T 1.000 N -0.960 T 0.004 T 0.016 T Pathogenic 20_1592152_A->G 20 1592152 1592152 A G snp 126.77 0/1 99 43 36 7 0.16 exonic rs201646968 SIRPB1 AU nonsynonymous SNV NM_001135844 exon2 c.T284C p.L95P 0.34 T 1 N -0.956 T 0.0 T 0.013 T Pathogenic 20_1592153_G->A 20 1592153 1592153 G A snp 124.77 0/1 99 43 36 7 0.16 exonic SIRPB1 AU nonsynonymous SNV NM_001135844 exon2 c.C283T p.L95F 0.68 T 1 N -0.900 T 0.0 T 0.006 T Pathogenic 20_1592154_G->C 20 1592154 1592154 G C snp 123.77 0/1 99 44 37 7 0.16 exonic rs200203262 SIRPB1 AU nonsynonymous SNV NM_001135844 exon2 c.C282G p.D94E 0.06 T 1 N -0.766 T 0.153 T 0.183 T Pathogenic 20_1592175_T->G 20 1592175 1592175 T G snp 379.77 0/1 99 65 47 18 0.28 exonic rs201724217 SIRPB1 AU synonymous SNV NM_001135844 exon2 c.A261C p.P87P 0.548522 0.622 0.0847 0.1913 ID=COSM3681135;OCCURENCE=2(thyroid) Uncertain 20_1592193_C->T 20 1592193 1592193 C T snp 660.77 0/1 99 83 54 29 0.35 exonic rs371465078 SIRPB1 AU synonymous SNV NM_001135844 exon2 c.G243A p.Q81Q 0.563698 0.631 0.1144 0.2581 Uncertain 20_1592215_C->G 20 1592215 1592215 C G snp 1016.77 0/1 99 111 68 43 0.39 exonic rs41289057 SIRPB1 AU nonsynonymous SNV NM_001135844 exon2 c.G221C p.G74A 0.641573 0.7351 0.3706 0.6621 0.2 T 0.0 P -0.980 T 0.002 T 0.009 T Pathogenic 20_1592265_A->G 20 1592265 1592265 A G snp 1286.77 0/1 99 169 107 62 0.37 exonic rs45471597 SIRPB1 AU synonymous SNV NM_001135844 exon2 c.T171C p.T57T 0.66893 0.7669 0.5504 0.7817 Uncertain 20_1592284_G->A 20 1592284 1592284 G A snp 1247.77 0/1 99 169 105 64 0.38 exonic rs1135196 SIRPB1 AU nonsynonymous SNV NM_001135844 exon2 c.C152T p.T51I 0.66893 0.7669 0.5529 0.7821 0.04 T 1.000 P -1.064 T 0.929 T 0.832 D Pathogenic 20_1592312_T->C 20 1592312 1592312 T C snp 1143.77 0/1 99 159 100 59 0.37 exonic rs72484087 SIRPB1 AU nonsynonymous SNV NM_001135844 exon2 c.A124G p.I42V 0.66234 0.7639 0.4672 0.7189 1 T 0.000 P -0.944 T 0.0 T 0.0 T Pathogenic 20_1592343_T->C 20 1592343 1592343 T C snp 852.77 0/1 99 127 84 43 0.34 exonic rs200963975 SIRPB1 AU synonymous SNV NM_001135844 exon2 c.A93G p.E31E 0.548123 0.6052 0.0557 0.1390 Uncertain 20_1592349_G->A 20 1592349 1592349 G A snp 499.77 0/1 99 109 77 32 0.29 exonic rs777055083 SIRPB1 AU synonymous SNV NM_001135844 exon2 c.C87T p.G29G 0.0085 0.0131 Uncertain 20_1592352_A->C 20 1592352 1592352 A C snp 635.77 0/1 99 107 77 30 0.28 exonic rs139138248 SIRPB1 AU synonymous SNV NM_001135844 exon2 c.T84G p.A28A 0.0100 0.0183 Uncertain 20_1592355_T->C 20 1592355 1592355 T C snp 605.77 0/1 99 106 76 30 0.28 exonic rs145146965 SIRPB1 AU synonymous SNV NM_001135844 exon2 c.A81G p.V27V 0.0103 0.0173 Uncertain 20_1592358_C->T 20 1592358 1592358 C T snp 597.77 0/1 99 105 74 31 0.3 exonic rs145917713 SIRPB1 AU synonymous SNV NM_001135844 exon2 c.G78A p.G26G 0.0111 0.0260 Uncertain 20_1592390_C->T 20 1592390 1592390 C T snp 59.77 0/1 88 51 44 7 0.14 intronic rs144483378 SIRPB1 AU NM_001135844 exon5 c.12890+31C>T 0.1547 0.2835 Uncertain 20_1592399_G->A 20 1592399 1592399 G A snp 91.77 0/1 99 44 37 7 0.16 intronic rs200926806 SIRPB1 AU NM_001135844 exon5 c.12890+40G>A 0.1598 0.2927 Uncertain 20_1600524_T->C 20 1600524 1600524 T C snp 1892.77 0/1 99 164 80 84 0.51 exonic rs1535882 SIRPB1 AU nonsynonymous SNV NM_001083910 exon1 c.A67G p.R23G 0.243011 0.2212 0.281409 0.3141 0.1903 0.35 T 0.0 P -0.899 T 0.0 T 0.0 T Pathogenic 20_1610772_C->T 20 1610772 1610772 C T snp 285.77 0/1 99 32 21 11 0.34 intronic rs191584450 SIRPG AU 0.00139776 0.006 Uncertain 20_1610790_G->A 20 1610790 1610790 G A snp 292.77 0/1 99 36 23 13 0.36 intronic rs3746719 SIRPG AU 0.342252 0.626 Uncertain 20_1610812_G->A 20 1610812 1610812 G A snp 473.77 0/1 99 51 29 22 0.43 intronic rs3746720 SIRPG AU 0.34365 0.626 0.208717 Uncertain 20_1610894_G->A 20 1610894 1610894 G A snp 420.77 0/1 99 44 24 20 0.45 exonic rs3746721 SIRPG AU synonymous SNV NM_018556 exon5 c.C1140T p.Y380Y 0.344249 0.625 0.204755 0.3930 0.6389 Uncertain 20_1610939_G->A 20 1610939 1610939 G A snp 752.77 1/1 54 27 0 27 1.0 exonic rs3746722 SIRPG AU synonymous SNV NM_018556 exon5 c.C1095T p.S365S 0.827476 0.8631 0.729952 0.7528 0.8204 Uncertain 20_1615959_T->C 20 1615959 1615959 T C snp 5189.77 1/1 99 194 0 194 1.0 exonic rs9305125 SIRPG AU synonymous SNV NM_018556 exon4 c.A1035G p.L345L 0.894169 0.8681 0.867215 0.8582 0.8474 Uncertain 20_1616137_G->A 20 1616137 1616137 G A snp 2742.77 0/1 99 208 93 115 0.55 exonic rs6034239 SIRPG AU nonsynonymous SNV NM_018556 exon4 c.C857T p.S286L 0.595647 0.6369 0.518299 0.4991 0.6454 1 T 1.000 P -1.040 T 0.0 T 0.0 T Pathogenic 20_1616206_A->G 20 1616206 1616206 A G snp 2841.77 1/1 99 93 0 93 1.0 exonic rs6043409 SIRPG AU nonsynonymous SNV NM_018556 exon4 c.T788C p.V263A 0.797125 0.8482 0.705521 0.7296 0.8361 1 T 0.0 P -0.985 T 0.0 T 0.001 T Pathogenic 20_1616817_GT->- 20 1616817 1616818 GT - indel 2558.73 0/1 99 132 71 61 0.46 ncRNA_intronic rs3833330 SIRPG-AS1 AU 0.269569 0.2103 0.264297 0.2494 0.1881 Uncertain 20_1616892_A->G 20 1616892 1616892 A G snp 3151.77 0/1 99 250 121 129 0.52 exonic rs2277760 SIRPG AU synonymous SNV NM_018556 exon3 c.T690C p.H230H 0.347843 0.6379 0.198139 0.3057 0.6454 Uncertain 20_1617069_A->G 20 1617069 1617069 A G snp 1923.77 0/1 99 127 57 70 0.55 exonic rs2277761 SIRPG AU synonymous SNV NM_018556 exon3 c.T513C p.H171H 0.229233 0.2103 0.219899 0.2425 0.1920 Uncertain 20_1629547_T->C 20 1629547 1629547 T C snp 701.77 1/1 54 20 0 20 1.0 intronic rs6110775 SIRPG AU NM_018556 exon5 c.18828-150T>C 0.7498 0.878 Uncertain 20_1629604_A->C 20 1629604 1629604 A C snp 1804.77 1/1 99 61 0 61 1.0 intronic rs6074948 SIRPG AU NM_018556 exon5 c.18828-93A>C 0.749601 0.878 Uncertain 20_1629606_A->G 20 1629606 1629606 A G snp 690.77 0/1 99 63 35 28 0.44 intronic rs6110777 SIRPG AU NM_018556 exon5 c.18828-91A>G 0.472444 0.6508 Uncertain 20_1629906_C->T 20 1629906 1629906 C T snp 2073.77 0/1 99 158 74 84 0.53 exonic rs6079967 SIRPG AU synonymous SNV NM_018556 exon2 c.G222A p.R74R 0.351637 0.2708 0.414885 0.4080 0.2479 Uncertain 20_1895601_C->T 20 1895601 1895601 C T snp 181.77 0/1 99 12 6 6 0.5 intronic rs66600581 SIRPA AU NM_001040022 exon3 c.19651-143C>T 0.476238 0.6528 Uncertain 20_1895611_G->A 20 1895611 1895611 G A snp 196.77 0/1 99 18 11 7 0.39 intronic rs73569345 SIRPA AU NM_001040022 exon3 c.19651-133G>A 0.435503 0.6052 Uncertain 20_1895621_C->A 20 1895621 1895621 C A snp 219.77 0/1 99 22 13 9 0.41 intronic rs112203261 SIRPA AU NM_001040022 exon3 c.19651-123C>A 0.392971 0.6062 Uncertain 20_1895630_T->C 20 1895630 1895630 T C snp 444.77 0/1 99 32 15 17 0.53 intronic rs111980944 SIRPA AU NM_001040022 exon3 c.19651-114T>C 0.392971 0.6111 Uncertain 20_1895644_T->C 20 1895644 1895644 T C snp 545.77 0/1 99 43 22 21 0.49 intronic rs111751479 SIRPA AU NM_001040022 exon3 c.19651-100T>C 0.434105 0.6002 Uncertain 20_1895655_T->C 20 1895655 1895655 T C snp 614.77 0/1 99 51 25 26 0.51 intronic rs113347998 SIRPA AU NM_001040022 exon3 c.19651-89T>C 0.431909 0.5982 Uncertain 20_1895658_A->T 20 1895658 1895658 A T snp 599.77 0/1 99 53 27 26 0.49 intronic rs113961013 SIRPA AU NM_001040022 exon3 c.19651-86A>T 0.432109 0.5982 Uncertain 20_1895667_A->C 20 1895667 1895667 A C snp 661.77 0/1 99 59 31 28 0.47 intronic rs114169528 SIRPA AU NM_001040022 exon3 c.19651-77A>C 0.427316 0.5942 Uncertain 20_1895668_C->A 20 1895668 1895668 C A snp 663.77 0/1 99 61 33 28 0.46 intronic rs114623029 SIRPA AU NM_001040022 exon3 c.19651-76C>A 0.427316 0.5942 Uncertain 20_1895673_T->C 20 1895673 1895673 T C snp 683.77 0/1 99 71 40 31 0.44 intronic rs76897346 SIRPA AU NM_001040022 exon3 c.19651-71T>C 0.428115 0.5942 Uncertain 20_1895705_C->T 20 1895705 1895705 C T snp 796.77 0/1 99 119 73 46 0.39 intronic rs111713867 SIRPA AU NM_001040022 exon3 c.19651-39C>T 0.3460 0.5676 Uncertain 20_1895713_-->AA 20 1895713 1895713 - AA indel 1091.73 0/1 99 129 88 41 0.32 intronic rs146721721 SIRPA AU NM_001040022 exon3 c.19651-31insAA 0.3432 0.5595 Uncertain 20_1895714_G->A 20 1895714 1895714 G A snp 747.77 0/1 99 133 88 45 0.34 intronic rs112912386 SIRPA AU NM_001040022 exon3 c.19651-30G>A 0.3589 0.5849 Uncertain 20_1895794_G->A 20 1895794 1895794 G A snp 407.77 0/1 99 155 127 28 0.18 exonic rs1135192 SIRPA AU synonymous SNV NM_001040022 exon3 c.G129A p.V43V 0.235423 0.4325 0.033995 0.0033 0.0051 Uncertain 20_1895796_T->C 20 1895796 1895796 T C snp 396.77 0/1 99 155 127 28 0.18 exonic rs143735290 SIRPA AU nonsynonymous SNV NM_001040022 exon3 c.T131C p.L44S 0.23123 0.4286 0.0029 0.0041 1 T 1.000 N -0.995 T 0.001 T 0.008 T Pathogenic 20_1895797_G->A 20 1895797 1895797 G A snp 395.77 0/1 99 155 127 28 0.18 exonic rs146490405 SIRPA AU synonymous SNV NM_001040022 exon3 c.G132A p.L44L 0.23103 0.4286 0.0028 0.0037 Uncertain 20_1895813_A->T 20 1895813 1895813 A T snp 343.77 0/1 99 147 124 23 0.16 exonic rs17855609 SIRPA AU nonsynonymous SNV NM_001040022 exon3 c.A148T p.T50S 0.211062 0.4157 0.0009 0.0020 0.95 T 0.000 P -0.944 T 0.0 T 0.004 T Pathogenic 20_1895815_A->G 20 1895815 1895815 A G snp 321.77 0/1 99 147 124 23 0.16 exonic rs17853846 SIRPA AU synonymous SNV NM_001040022 exon3 c.A150G p.T50T 0.210863 0.4147 0.0009 0.0020 Uncertain 20_1895820_C->T 20 1895820 1895820 C T snp 333.77 0/1 99 141 120 21 0.15 exonic rs17855610 SIRPA AU nonsynonymous SNV NM_001040022 exon3 c.C155T p.T52I 0.215655 0.4246 0.0008 0.0014 0.1 T 0.441 P -1.004 T 0.148 T 0.32 T Pathogenic 20_1895826_G->A 20 1895826 1895826 G A snp 334.77 0/1 99 135 114 21 0.16 exonic rs17855611 SIRPA AU nonsynonymous SNV NM_001040022 exon3 c.G161A p.R54H 0.215256 0.4236 0.0008 0.0016 0.46 T 0.0 P -1.055 T 0.0 T 0.001 T Pathogenic 20_1895835_C->T 20 1895835 1895835 C T snp 296.77 0/1 99 131 110 21 0.16 exonic rs17855612 SIRPA AU nonsynonymous SNV NM_001040022 exon3 c.C170T p.A57V 0.263379 0.4474 0.032867 0.0014 0.0039 1 T 0.0 P -0.946 T 0.001 T 0.001 T Pathogenic 20_1895842_T->C 20 1895842 1895842 T C snp 268.77 0/1 99 120 99 21 0.17 exonic rs17853847 SIRPA AU synonymous SNV NM_001040022 exon3 c.T177C p.S59S 0.336861 0.5506 0.043999 0.0037 0.0130 Uncertain 20_1895951_C->T 20 1895951 1895951 C T snp 40.77 0/1 69 20 15 5 0.25 exonic rs149634649 SIRPA AU nonsynonymous SNV NM_001040022 exon3 c.C286T p.L96F 0.375599 0.5883 0.7 T 1 N -0.908 T 0.852 T 0.365 P Pathogenic 20_1895952_T->C 20 1895952 1895952 T C snp 36.77 0/1 65 20 15 5 0.25 exonic rs146163282 SIRPA AU nonsynonymous SNV NM_001040022 exon3 c.T287C p.L96P 0.375599 0.5883 0.28 T 1 N -0.919 T 0.003 T 0.01 T Pathogenic 20_1895963_A->G 20 1895963 1895963 A G snp 57.77 0/1 86 18 13 5 0.28 exonic rs17855613 SIRPA AU nonsynonymous SNV NM_001040022 exon3 c.A298G p.N100D 0.322883 0.5288 0.3441 0.5595 0.08 T 1 N -0.948 T 0.022 T 0.055 T Pathogenic 20_1895965_C->A 20 1895965 1895965 C A snp 57.77 0/1 86 18 13 5 0.28 exonic rs17855614 SIRPA AU nonsynonymous SNV NM_001040022 exon3 c.C300A p.N100K 0.0958466 0.1835 0.3435 0.5582 0.01 T 1 N -0.933 T 0.407 T 0.136 T Pathogenic 20_1895984_C->A 20 1895984 1895984 C A snp 58.77 0/1 87 16 12 4 0.25 exonic rs17855615 SIRPA AU nonsynonymous SNV NM_001040022 exon3 c.C319A p.R107S 0.3600 0.5794 0.13 T 0.910 P -0.635 T 0.964 D 0.657 D Pathogenic 20_1895990_G->A 20 1895990 1895990 G A snp 93.77 0/1 99 18 13 5 0.28 exonic rs17855616 SIRPA AU nonsynonymous SNV NM_001040022 exon3 c.G325A p.G109S 0.3619 0.6035 1 T 0.000 P -0.944 T 0.001 T 0.002 T Pathogenic 20_1896052_CGA->- 20 1896052 1896054 CGA - indel 989.73 0/1 99 50 32 18 0.36 exonic rs139878822 SIRPA AU nonframeshift deletion NM_001040022 exon3 c.387_389del p.129_130del 0.389377 0.5933 0.3407 0.5713 ID=COSM128735;OCCURENCE=1(breast),1(large_intestine),1(upper_aerodigestive_tract) Uncertain 20_1896059_G->A 20 1896059 1896059 G A snp 410.77 0/1 99 56 36 20 0.36 exonic rs115287948 SIRPA AU nonsynonymous SNV NM_001040022 exon3 c.G394A p.V132M 0.409345 0.625 0.3473 0.5757 0.24 T 0.0 P -0.960 T 0.188 T 0.084 T Pathogenic 20_1896060_T->C 20 1896060 1896060 T C snp 451.77 0/1 99 58 38 20 0.34 exonic rs114499682 SIRPA AU nonsynonymous SNV NM_001040022 exon3 c.T395C p.V132A 0.409345 0.625 0.3484 0.5775 0.24 T 1 N -0.963 T 0.03 T 0.161 T Pathogenic 20_1896100_C->T 20 1896100 1896100 C T snp 548.77 0/1 99 74 44 30 0.41 exonic rs6136375 SIRPA AU synonymous SNV NM_001040022 exon3 c.C435T p.R145R 0.348254 0.4111 0.6460 Uncertain 20_1896244_A->G 20 1896244 1896244 A G snp 189.77 0/1 94 10 3 7 0.7 intronic rs6136376 SIRPA AU NM_001040022 exon3 c.20008+143A>G 0.446286 0.6528 Uncertain 20_1918305_G->A 20 1918305 1918305 G A snp 971.77 0/1 99 68 28 40 0.59 UTR3 rs2235747 SIRPA AU 0.205871 0.4573 Uncertain 20_2082767_G->A 20 2082767 2082767 G A snp 438.77 1/1 33 12 0 12 1.0 exonic rs6106228 STK35 AU synonymous SNV NM_080836 exon1 c.G240A p.Q80Q 0.343051 0.8105 0.3468 0.91 Uncertain 20_2097688_T->C 20 2097688 2097688 T C snp 4414.77 1/1 99 164 0 164 1.0 exonic rs1891227 STK35 AU synonymous SNV NM_080836 exon3 c.T1269C p.A423A 0.302915 0.8026 0.044210 0.1701 0.8321 Uncertain 20_2290333_C->A 20 2290333 2290333 C A snp 1277.77 1/1 93 39 0 39 1.0 exonic rs214803 TGM3 AU nonsynonymous SNV NM_003245 exon2 c.C38A p.T13K 0.742612 0.9246 0.706981 0.8102 0.9315 0.3 T 0.0 P -0.904 T 0.727 T 0.052 P ID=CM145276;DIS=Basal cell carcinoma, increased risk, association with;TAG=DP;PUB=24403052 DP Pathogenic 20_2290532_T->G 20 2290532 2290532 T G snp 2158.77 1/1 99 74 0 74 1.0 intronic rs214804 TGM3 AU NM_003245 exon2 c.13767+56T>G 0.869209 1 Uncertain 20_2290547_C->T 20 2290547 2290547 C T snp 1787.77 1/1 99 61 0 61 1.0 intronic rs214805 TGM3 AU NM_003245 exon2 c.13767+71C>T 0.86901 1 Uncertain 20_2291888_A->T 20 2291888 2291888 A T snp 182.9 1/1 15 5 0 5 1.0 intronic rs214806 TGM3 AU NM_003245 exon4 c.15066+113A>T 0.867812 1 Uncertain 20_2315929_C->T 20 2315929 2315929 C T snp 893.77 1/1 66 28 0 28 1.0 intronic rs2076406 TGM3 AU NM_003245 exon11 c.39210+10C>T 0.678115 0.8909 0.564355 0.6143 0.8954 Uncertain 20_2321105_G->C 20 2321105 2321105 G C snp 5345.77 1/1 99 198 0 198 1.0 exonic rs214830 TGM3 AU nonsynonymous SNV NM_003245 exon13 c.G1960C p.G654R 0.810503 0.8641 0.701753 0.7121 0.8637 1 T 0.000 P -0.960 T 0.0 T 0.0 T ID=CM145277;DIS=Basal cell carcinoma, reduced risk, association with;TAG=DP;PUB=24403052 DP Pathogenic 20_2321363_A->G 20 2321363 2321363 A G snp 2050.77 1/1 99 64 0 64 1.0 UTR3 rs214831 TGM3 AU 0.766973 0.8641 Uncertain 20_2321665_T->C 20 2321665 2321665 T C snp 2232.77 1/1 99 77 0 77 1.0 UTR3 rs214832 TGM3 AU 0.799121 0.9167 Uncertain 20_2361684_C->T 20 2361684 2361684 C T snp 2080.77 1/1 99 81 0 81 1.0 intronic rs2422753 TGM6 AD NM_001254734 exon1 c.7+63C>T 0.690895 0.4891 0.789750 Uncertain 20_2375262_A->G 20 2375262 2375262 A G snp 1133.77 1/1 81 40 0 40 1.0 exonic rs2076405 TGM6 AD nonsynonymous SNV NM_198994 exon2 c.A172G p.M58V 0.877995 0.6825 0.937260 0.9071 0.6833 1 T 0.0 P -0.954 T 0.0 T 0.0 T CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000118626.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 20_2376963_T->A 20 2376963 2376963 T A snp 608.77 1/1 48 16 0 16 1.0 intronic rs6048642 TGM6 AD NM_001254734 exon4 c.15537-188T>A 0.905751 0.8313 Uncertain 20_2380396_G->A 20 2380396 2380396 G A snp 1577.77 1/1 99 60 0 60 1.0 intronic rs2076404 TGM6 AD NM_001254734 exon6 c.18770+12G>A 0.574081 0.6597 0.616990 0.6616 0.6665 Uncertain 20_2410952_C->T 20 2410952 2410952 C T snp 96.77 0/1 99 9 5 4 0.44 intronic rs2076649 TGM6 AD NM_001254734 exon11 c.49477-139C>T 0.508986 0.5327 Uncertain 20_2411368_G->A 20 2411368 2411368 G A snp 56.74 1/1 6 2 0 2 1.0 intronic rs2076648 TGM6 AD NM_001254734 exon11 c.49632+122G>A 0.242013 0.2817 Uncertain 20_2411732_AG->- 20 2411732 2411733 AG - indel 640.73 0/1 99 59 27 32 0.54 intronic rs571864777 TGM6 AD NM_198994 exon12 c.50059+59_50059+60delAG Uncertain 20_2411792_C->T 20 2411792 2411792 C T snp 259.77 0/1 99 13 5 8 0.62 intronic rs7269048 TGM6 AD NM_198994 exon12 c.50059+119C>T 0.513179 0.5327 Uncertain 20_2413020_G->A 20 2413020 2413020 G A snp 38.77 0/1 67 5 3 2 0.4 intronic rs2076654 TGM6 AD NM_001254734 exon12 c.51521-115G>A 0.512979 0.5327 Uncertain 20_2413125_C->T 20 2413125 2413125 C T snp 605.77 0/1 99 52 27 25 0.48 intronic rs2076653 TGM6 AD NM_001254734 exon12 c.51521-10C>T 0.513179 0.5327 0.346686 0.4175 0.5160 Uncertain 20_2413126_C->T 20 2413126 2413126 C T snp 1401.77 1/1 99 52 1 51 0.98 intronic rs6036467 TGM6 AD NM_001254734 exon12 c.51521-9C>T 0.995807 1 0.986006 0.9868 1 Uncertain 20_2413320_T->C 20 2413320 2413320 T C snp 1547.77 0/1 99 135 69 66 0.49 UTR3 rs2076652 TGM6 AD 0.513179 0.5327 0.436568 0.4175 0.5174 Uncertain 20_2442273_C->A 20 2442273 2442273 C A snp 343.78 1/1 27 10 0 10 1.0 downstream rs6049216 SNRPB AR,AD 0.88738 0.9772 Uncertain 20_2443116_G->A 20 2443116 2443116 G A snp 983.77 0/1 99 96 53 43 0.45 intronic rs6036572 SNRPB AR,AD NM_198216 exon2 c.880-165G>A 0.216454 0.2728 Uncertain 20_2443441_G->A 20 2443441 2443441 G A snp 589.77 0/1 99 48 25 23 0.48 intronic rs2143862 SNRPB AR,AD NM_198216 exon2 c.1006+34G>A 0.216454 0.2718 0.144854 0.1635 0.2446 Uncertain 20_2444744_C->T 20 2444744 2444744 C T snp 35.77 0/1 64 4 2 2 0.5 intronic rs6076161 SNRPB AR,AD NM_198216 exon4 c.2144+199C>T 0.216653 0.2728 Uncertain 20_2451451_G->T 20 2451451 2451451 G T snp 2167.77 0/1 99 167 74 93 0.56 UTR5 rs6049288 SNRPB AR,AD 0.173522 0.2748 Uncertain 20_2451503_G->A 20 2451503 2451503 G A snp 1188.77 0/1 99 103 49 54 0.52 upstream rs4815262 SNRPB AR,AD 0.55012 0.7014 Uncertain 20_2451504_C->T 20 2451504 2451504 C T snp 1209.77 0/1 99 103 54 49 0.48 upstream rs6049290 SNRPB AR,AD 0.173722 0.2758 Uncertain 20_2474081_T->C 20 2474081 2474081 T C snp 1422.77 1/1 99 56 0 56 1.0 intronic rs4815270 ZNF343 AU NM_001282496 exon3 c.10358-83T>C 0.807508 0.8571 Uncertain 20_2517377_A->G 20 2517377 2517377 A G snp 982.77 0/1 99 105 57 48 0.46 intronic rs6036860 TMC2 AU NM_080751 exon1 c.34+76A>G 0.513978 0.3889 0.528252 Uncertain 20_2517432_T->C 20 2517432 2517432 T C snp 606.77 0/1 99 50 27 23 0.46 intronic rs6036861 TMC2 AU NM_080751 exon1 c.34+131T>C 0.532548 0.4534 Uncertain 20_2517825_T->C 20 2517825 2517825 T C snp 342.77 0/1 99 25 11 14 0.56 intronic rs6114817 TMC2 AU NM_080751 exon2 c.647-89T>C 0.531749 0.4534 Uncertain 20_2539387_G->A 20 2539387 2539387 G A snp 1841.77 0/1 99 195 105 90 0.46 exonic rs6050063 TMC2 AU nonsynonymous SNV NM_080751 exon3 c.G368A p.R123K 0.654353 0.5466 0.657231 0.6481 0.5405 0.86 T 0.0 P -1.025 T 0.0 T 0.0 T Pathogenic 20_2539568_T->A 20 2539568 2539568 T A snp 213.77 0/1 99 11 4 7 0.64 intronic rs4815320 TMC2 AU NM_080751 exon3 c.22153+148T>A 0.580871 0.4881 Uncertain 20_2542669_C->T 20 2542669 2542669 C T snp 689.77 0/1 99 61 32 29 0.48 intronic rs7270277 TMC2 AU NM_080751 exon4 c.25389+13C>T 0.308165 0.3499 0.4954 Uncertain 20_2542747_G->T 20 2542747 2542747 G T snp 264.77 0/1 99 18 9 9 0.5 intronic rs4815323 TMC2 AU NM_080751 exon4 c.25389+91G>T 0.395367 0.4286 Uncertain 20_2552805_T->A 20 2552805 2552805 T A snp 816.77 0/1 99 89 53 36 0.4 intronic rs1883981 TMC2 AU NM_080751 exon5 c.35557-19T>A 0.342652 0.3552 0.414655 0.4581 0.4155 Uncertain 20_2552926_T->C 20 2552926 2552926 T C snp 440.77 0/1 99 53 33 20 0.38 intronic rs1883980 TMC2 AU NM_080751 exon5 c.35648+11T>C 0.523962 0.4931 0.488851 0.5592 0.4833 Uncertain 20_2559778_G->C 20 2559778 2559778 G C snp 1615.77 0/1 99 158 89 69 0.44 intronic rs6083735 TMC2 AU NM_080751 exon6 c.42524-13G>C 0.695288 0.5228 0.713363 0.6918 0.5059 Uncertain 20_2572822_T->G 20 2572822 2572822 T G snp 107.77 0/1 99 7 3 4 0.57 intronic rs386458758 TMC2 AU NM_080751 exon8 c.55688-133T>G 0.134385 0.2698 Uncertain 20_2590917_C->T 20 2590917 2590917 C T snp 379.77 0/1 99 17 5 12 0.71 intronic rs1883979 TMC2 AU NM_080751 exon12 c.73797-147C>T 0.313698 0.2748 Uncertain 20_2591005_A->G 20 2591005 2591005 A G snp 1150.77 0/1 99 89 39 50 0.56 intronic rs1883978 TMC2 AU NM_080751 exon12 c.73797-59A>G 0.314297 0.2748 Uncertain 20_2591232_C->T 20 2591232 2591232 C T snp 726.77 0/1 99 57 29 28 0.49 exonic rs6050576 TMC2 AU synonymous SNV NM_080751 exon12 c.C1581T p.D527D 0.314097 0.2758 0.286252 0.2776 0.3177 Uncertain 20_2593006_A->G 20 2593006 2593006 A G snp 1354.77 1/1 96 47 0 47 1.0 intronic rs1015159 TMC2 AU NM_080751 exon13 c.75719+20A>G 0.650559 0.8165 0.557435 0.6308 0.8275 Uncertain 20_2593863_T->C 20 2593863 2593863 T C snp 1024.77 0/1 99 90 50 40 0.44 exonic rs6515646 TMC2 AU synonymous SNV NM_080751 exon14 c.T1767C p.S589S 0.265775 0.2937 0.233969 0.2597 0.3218 Uncertain 20_2596739_T->- 20 2596739 2596739 T - indel 767.73 0/1 99 45 12 33 0.73 intronic rs35949406 TMC2 AU NM_080751 exon15 c.79515-43delT 0.071417 0.1755 0.4116 Uncertain 20_2596762_G->A 20 2596762 2596762 G A snp 1017.77 0/1 99 76 28 48 0.63 intronic rs6050622 TMC2 AU NM_080751 exon15 c.79515-20G>A 0.247005 0.2986 0.165385 0.1510 0.3282 Uncertain 20_2596969_T->A 20 2596969 2596969 T A snp 1035.77 0/1 99 97 54 43 0.44 intronic rs4621228 TMC2 AU NM_080751 exon15 c.79583+119T>A Uncertain 20_2596998_G->A 20 2596998 2596998 G A snp 2528.77 1/1 99 88 0 88 1.0 intronic rs4481063 TMC2 AU NM_080751 exon15 c.79583+148G>A 0.768171 0.8145 Uncertain 20_2597073_T->G 20 2597073 2597073 T G snp 1159.77 1/1 84 40 0 40 1.0 intronic rs4544508 TMC2 AU NM_080751 exon15 c.79583+223T>G 0.820487 0.8562 Uncertain 20_2597978_G->A 20 2597978 2597978 G A snp 2376.77 0/1 99 203 108 95 0.47 intronic rs4815428 TMC2 AU NM_080751 exon16 c.80690+21G>A 0.489816 0.5575 0.519068 0.6184 0.5348 Uncertain 20_2598019_C->T 20 2598019 2598019 C T snp 3002.77 0/1 99 240 112 128 0.53 intronic rs6083866 TMC2 AU NM_080751 exon16 c.80690+62C>T 0.533946 0.5675 Uncertain 20_2616556_T->C 20 2616556 2616556 T C snp 2230.77 1/1 99 84 0 84 1.0 intronic rs910271 TMC2 AU NM_080751 exon18 c.99304-15T>C 0.786542 0.8571 0.740274 0.7787 0.8621 Uncertain 20_2616679_C->G 20 2616679 2616679 C G snp 3725.77 1/1 99 141 0 141 1.0 intronic rs2422808 TMC2 AU NM_080751 exon18 c.99383+29C>G 0.778754 0.8571 0.733815 0.7770 0.8624 Uncertain 20_2616776_T->G 20 2616776 2616776 T G snp 587.77 0/1 99 40 20 20 0.5 intronic rs13038659 TMC2 AU NM_080751 exon18 c.99383+126T>G 0.231629 0.2887 Uncertain 20_2617993_C->T 20 2617993 2617993 C T snp 547.77 1/1 42 17 0 17 1.0 intronic rs6083914 TMC2 AU NM_080751 exon19 c.100852-126C>T 0.778954 0.8581 Uncertain 20_2618094_G->A 20 2618094 2618094 G A snp 3293.77 1/1 99 108 0 108 1.0 intronic rs6037181 TMC2 AU NM_080751 exon19 c.100852-25G>A 0.778954 0.8581 0.733584 0.7763 0.8616 Uncertain 20_2618140_T->C 20 2618140 2618140 T C snp 4456.77 1/1 99 165 0 165 1.0 exonic rs6083915 TMC2 AU synonymous SNV NM_080751 exon19 c.T2406C p.S802S 0.778954 0.8581 0.733892 0.7765 0.8625 Uncertain 20_2618308_C->T 20 2618308 2618308 C T snp 1785.77 1/1 99 58 0 58 1.0 intronic rs6050771 TMC2 AU NM_080751 exon19 c.100970+71C>T 0.778954 0.8581 Uncertain 20_2621998_T->C 20 2621998 2621998 T C snp 864.77 0/1 99 61 28 33 0.54 UTR3 rs6050798 TMC2 AU 0.531949 0.5585 0.517992 0.5474 0.5547 Uncertain 20_2633234_T->G 20 2633234 2633234 T G snp 301.78 1/1 24 11 0 11 1.0 UTR5 rs6115305 NOP56 AD 0.855831 0.8462 Uncertain 20_2633244_A->C 20 2633244 2633244 A C snp 354.78 1/1 27 12 0 12 1.0 UTR5 rs4815467 NOP56 AD 0.859425 0.8462 Uncertain 20_2633326_GGGCGC->- 20 2633326 2633331 GGGCGC - indel 1165.73 0/1 99 39 22 17 0.44 intronic rs150527448 NOP56 AD NM_006392 exon1 c.3+17_3+22delGGGCGC 0.336861 0.3581 0.242144 0.3010 0.2383 Uncertain 20_2633378_-->GAGCCTGGGCCTGGGCCT 20 2633378 2633378 - GAGCCTGGGCCTGGGCCT indel 7522.73 ./1 99 49 0 49 1.0 intronic rs149713688 NOP56 AD NM_006392 exon1 c.3+69insGAGCCTGGGCCTGGGCCT 0.0563 0.1341 Uncertain 20_2633378_-->GAGCCTGGGCCT 20 2633378 2633378 - GAGCCTGGGCCT indel 7522.73 ./1 99 49 0 49 1.0 intronic rs149713688 NOP56 AD NM_006392 exon1 c.3+69insGAGCCTGGGCCT 0.348043 0.4038 0.636959 0.3054 0.2591 Uncertain 20_2633404_C->G 20 2633404 2633404 C G snp 2006.77 1/1 99 76 1 75 0.99 intronic rs6115307 NOP56 AD NM_006392 exon2 c.181-83C>G 0.754393 0.8175 0.5758 0.5216 Uncertain 20_2633936_T->C 20 2633936 2633936 T C snp 3457.77 1/1 99 123 0 123 1.0 exonic rs2073194 NOP56 AD synonymous SNV NM_006392 exon3 c.T105C p.S35S 0.861222 0.8462 0.834307 0.8285 0.8421 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000117823.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 20_2634167_C->A 20 2634167 2634167 C A snp 549.77 0/1 99 43 26 17 0.4 intronic rs6050911 NOP56 AD NM_006392 exon3 c.733+128C>A 0.333466 0.25 Uncertain 20_2635012_T->G 20 2635012 2635012 T G snp 2522.77 0/1 99 213 109 104 0.49 intronic rs3818060 NOP56 AD NM_006392 exon4 c.1753-47T>G 0.120607 0.2202 0.069891 0.1054 0.2365 Uncertain 20_2635212_A->G 20 2635212 2635212 A G snp 826.77 0/1 99 71 37 34 0.48 exonic rs2273137 NOP56 AD nonsynonymous SNV NM_006392 exon4 c.A361G p.I121V 0.118411 0.2232 0.070045 0.1037 0.2362 0.29 T 1.000 P -1.074 T 0.089 T 0.034 T CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000117826.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 20_2637071_T->C 20 2637071 2637071 T C snp 2641.77 1/1 99 90 0 90 1.0 exonic rs8958 NOP56 AD synonymous SNV NM_006392 exon9 c.T1035C p.T345T 0.673722 0.626 0.650853 0.6336 0.6143 1.0 P -1.016 T CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000117822.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Likely benign 20_2638459_T->C 20 2638459 2638459 T C snp 107.77 0/1 99 18 12 6 0.33 intronic rs11697937 NOP56 AD NM_006392 exon12 c.5268-115T>C 0.133387 0.2222 Uncertain 20_2638492_G->A 20 2638492 2638492 G A snp 215.77 0/1 99 27 18 9 0.33 intronic rs11699380 NOP56 AD NM_006392 exon12 c.5268-82G>A 0.133387 0.2222 Uncertain 20_2638579_T->C 20 2638579 2638579 T C snp 273.77 0/1 99 52 36 16 0.31 exonic rs6753 NOP56 AD nonsynonymous SNV NM_006392 exon12 c.T1424C p.M475T 0.376997 0.254 0.358444 0.3098 0.2846 0.65 T 0.0 P -0.964 T 0.0 T 0.0 T CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000117824.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 20_2638882_T->C 20 2638882 2638882 T C snp 422.77 0/1 99 19 6 13 0.68 exonic rs5856 NOP56 AD nonsynonymous SNV NM_006392 exon12 c.T1727C p.V576A 0.377396 0.255 0.338926 0.2931 0.2757 1 T 0.0 P -0.923 T 0.0 T 0.0 T CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000117825.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 20_2640102_G->A 20 2640102 2640102 G A snp 619.77 0/1 99 58 35 23 0.4 intronic rs2235955 IDH3B AU NM_001258384 exon2 c.272-68G>A 0.378395 0.255 0.360053 Uncertain 20_2640488_T->C 20 2640488 2640488 T C snp 40.77 0/1 69 8 5 3 0.38 intronic rs6115368 IDH3B AU NM_001258384 exon3 c.541+49T>C 0.16873 0.2222 0.117407 0.1232 0.2378 Uncertain 20_2644407_C->G 20 2644407 2644407 C G snp 979.77 0/1 99 69 33 36 0.52 splicing rs2073193 IDH3B AU NM_001258384 exon10 c.4506+3C>G 0.613019 0.623 0.653314 0.6865 0.6049 Pathogenic 20_2644685_C->A 20 2644685 2644685 C A snp 3481.77 0/1 99 250 126 124 0.5 intronic rs6107100 IDH3B AU NM_001258384 exon11 c.4753+34C>A 0.232628 0.2222 0.180532 0.1370 0.2393 Uncertain 20_2644975_C->T 20 2644975 2644975 C T snp 99.28 1/1 9 3 0 3 1.0 upstream rs2235954 IDH3B AU 0.883586 0.8442 Uncertain 20_2674174_A->G 20 2674174 2674174 A G snp 56.74 1/1 6 2 0 2 1.0 intronic rs55820831 EBF4 AU NM_001110514 exon2 c.515-132A>G 0.213259 0.3502 Uncertain 20_2686432_CACACA->- 20 2686432 2686437 CACACA - indel 2095.73 ./1 99 58 0 58 1.0 intronic EBF4 AU NM_001110514 exon3 c.12588+53_12588+58delCACACA Uncertain 20_2686432_CACACACACACA->- 20 2686432 2686443 CACACACACACA - indel 2095.73 ./1 99 58 0 58 1.0 intronic EBF4 AU NM_001110514 exon3 c.12588+53_12588+64delCACACACACACA Uncertain 20_2690383_G->A 20 2690383 2690383 G A snp 839.77 0/1 99 49 17 32 0.65 intronic rs13042775 EBF4 AU NM_001110514 exon7 c.16497+95G>A 0.16893 0.2679 Uncertain 20_2732934_G->A 20 2732934 2732934 G A snp 190.9 1/1 15 9 0 9 1.0 intronic rs60014511 EBF4 AU NM_001110514 exon14 c.59118+25G>A 0.455072 0.4931 0.3333 . Uncertain 20_2739583_T->C 20 2739583 2739583 T C snp 3913.77 1/1 99 152 0 152 1.0 exonic rs2073125 EBF4 AU synonymous SNV NM_001110514 exon17 c.T1755C p.F585F 0.385184 0.5417 0.332238 0.3647 0.5543 Uncertain 20_2775332_T->C 20 2775332 2775332 T C snp 1497.77 0/1 99 175 106 69 0.39 intronic rs127078 CPXM1 AU NM_001184699 exon2 c.450+47T>C 0.375599 0.4365 0.260188 0.2556 0.4335 Uncertain 20_2777459_T->C 20 2777459 2777459 T C snp 849.77 1/1 66 26 0 26 1.0 intronic rs1985525 CPXM1 AU NM_001184699 exon7 c.2461+163T>C 0.877196 0.999 Uncertain 20_2777828_G->T 20 2777828 2777828 G T snp 1353.77 0/1 99 117 65 52 0.44 intronic rs742707 CPXM1 AU NM_001184699 exon9 c.3002-9G>T 0.350839 0.3968 0.426880 0.5283 0.4340 Uncertain 20_2778075_T->C 20 2778075 2778075 T C snp 2051.77 1/1 99 67 0 67 1.0 intronic rs127076 CPXM1 AU NM_001184699 exon9 c.3153+87T>C 0.983227 1 Uncertain 20_2779257_G->C 20 2779257 2779257 G C snp 1500.77 1/1 99 44 0 44 1.0 intronic rs215541 CPXM1 AU NM_001184699 exon12 c.4348+74G>C 0.770966 0.999 Uncertain 20_2797138_CC->- 20 2797138 2797139 CC - indel 1135.73 ./1 99 50 3 47 0.94 intronic rs143302751 TMEM239 AU 0.865415 0.9087 0.4309 0.5678 Uncertain 20_2797138_C->- 20 2797138 2797138 C - indel 1135.73 ./1 99 50 3 47 0.94 intronic rs11475648 TMEM239 AU 0.4101 0.3644 Uncertain 20_2797765_G->- 20 2797765 2797765 G - indel 637.73 0/1 99 45 24 21 0.47 UTR3 rs11475330 TMEM239 AU 0.372204 0.4395 Uncertain 20_2816821_C->T 20 2816821 2816821 C T snp 651.77 1/1 54 26 0 26 1.0 exonic rs2274669 PCED1A AU synonymous SNV NM_001271168 exon7 c.G828A p.P276P 0.216653 0.3899 0.159619 0.2234 0.3697 Uncertain 20_2818801_T->C 20 2818801 2818801 T C snp 207.84 1/1 18 6 0 6 1.0 intronic rs751899 PCED1A AU NM_022760 exon3 c.2770-76T>C 0.771166 0.87 Uncertain 20_2821400_C->T 20 2821400 2821400 C T snp 397.77 0/1 99 45 26 19 0.42 UTR5 rs2297046 VPS16 AU 0.0471246 0.1012 0.040611 0.0414 0.0938 Uncertain 20_2840773_C->T 20 2840773 2840773 C T snp 2173.77 0/1 99 198 104 94 0.47 exonic rs3818605 VPS16 AU synonymous SNV NM_022575 exon3 c.C216T p.S72S 0.164137 0.25 0.117330 0.1646 0.2268 Uncertain 20_2842685_A->C 20 2842685 2842685 A C snp 1635.77 1/1 99 66 0 66 1.0 intronic rs6051449 VPS16 AU NM_022575 exon11 c.21279-14A>C 0.451677 0.6637 0.347686 0.4353 0.6581 Uncertain 20_2844469_-->AGAA 20 2844469 2844469 - AGAA indel 404.77 1/1 21 7 0 7 1.0 intronic rs11473328 VPS16 AU NM_080413 exon12 c.23174-125insAGAA 0.704673 0.8105 Uncertain 20_2845130_G->A 20 2845130 2845130 G A snp 5554.77 1/1 99 200 0 200 1.0 intronic rs730819 PTPRA AU 0.438698 0.6627 0.342534 0.4271 0.6623 Uncertain 20_2846289_G->A 20 2846289 2846289 G A snp 99.28 1/1 9 3 0 3 1.0 intronic rs677344 PTPRA AU 0.772165 0.869 Uncertain 20_2928445_G->A 20 2928445 2928445 G A snp 56.74 1/1 6 2 0 2 1.0 intronic rs967789 PTPRA AU 0.753395 0.8849 Uncertain 20_2967430_G->A 20 2967430 2967430 G A snp 2521.77 0/1 99 246 133 113 0.46 exonic rs78716368 PTPRA AU synonymous SNV NM_002836 exon11 c.G462A p.A154A 0.00798722 0.0248 0.000308 0.0080 0.0308 Uncertain 20_2996423_T->A 20 2996423 2996423 T A snp 2024.77 1/1 99 74 0 74 1.0 intronic rs1178015 PTPRA AU NM_080841 exon11 c.51571-71T>A 0.614816 0.8234 0.492773 Uncertain 20_2996497_C->T 20 2996497 2996497 C T snp 2773.77 1/1 99 110 2 108 0.98 exonic rs1178016 PTPRA AU synonymous SNV NM_002836 exon16 c.C909T p.G303G 0.613419 0.8234 0.501692 0.5468 0.8193 Uncertain 20_2996589_G->T 20 2996589 2996589 G T snp 1610.77 1/1 99 56 0 56 1.0 intronic rs1178017 PTPRA AU NM_080841 exon11 c.51608+58G>T 0.657748 0.8244 Uncertain 20_3002889_A->C 20 3002889 3002889 A C snp 3836.77 1/1 99 121 0 121 1.0 intronic rs544090 PTPRA AU NM_080841 exon14 c.57943+23A>C 0.771366 0.8978 0.608565 0.6175 0.9006 Uncertain 20_3005413_G->A 20 3005413 3005413 G A snp 347.78 1/1 27 10 0 10 1.0 intronic rs568235 PTPRA AU NM_080841 exon16 c.60344+146G>A 0.721446 0.8234 Uncertain 20_3007193_T->A 20 3007193 3007193 T A snp 595.77 0/1 99 28 9 19 0.68 intronic rs6138982 PTPRA AU NM_080841 exon17 c.62409-139T>A 0.229034 0.3978 Uncertain 20_3007228_G->A 20 3007228 3007228 G A snp 1970.77 1/1 99 66 0 66 1.0 intronic rs571058 PTPRA AU NM_080841 exon17 c.62409-104G>A 0.615016 0.8234 Uncertain 20_3007492_T->C 20 3007492 3007492 T C snp 928.77 1/1 69 29 0 29 1.0 intronic rs599538 PTPRA AU NM_080841 exon17 c.62503+66T>C 0.721845 0.8244 Uncertain 20_3007694_-->GGT 20 3007694 3007694 - GGT indel 2037.73 1/1 99 36 0 36 1.0 intronic rs10668644 PTPRA AU NM_080841 exon18 c.62843-72insGGT Uncertain 20_3008239_C->T 20 3008239 3008239 C T snp 93.28 1/1 9 3 0 3 1.0 intronic rs613309 PTPRA AU NM_080841 exon19 c.63429-113C>T 0.708466 0.8978 Uncertain 20_3025107_C->T 20 3025107 3025107 C T snp 1466.77 0/1 99 133 73 60 0.45 exonic rs6051545 GNRH2 AU nonsynonymous SNV NM_001501 exon2 c.C47T p.A16V 0.240216 0.372 0.150546 0.2119 0.3759 0.58 T 0.0 P -0.918 T 0.046 T 0.018 T Pathogenic 20_3026238_G->T 20 3026238 3026238 G T snp 467.77 0/1 99 51 31 20 0.39 intronic rs6138994 GNRH2 AU NM_001501 exon4 c.1271-93G>T 0.241813 0.373 Uncertain 20_3026345_-->GCCCC 20 3026345 3026345 - GCCCC indel 4358.73 0/1 99 170 64 106 0.62 exonic rs16996832 GNRH2 AU frameshift insertion NM_001501 exon4 c.326_327insGCCCC p.E109fs 0.145567 0.2391 0.1666 0.3434 Pathogenic 20_3026415_C->T 20 3026415 3026415 C T snp 2294.77 0/1 99 166 79 87 0.52 upstream;downstream rs8184100 MRPS26;GNRH2 UN 0.238618 0.372 0.2082 0.3708 Uncertain 20_3026531_A->C 20 3026531 3026531 A C snp 742.77 0/1 99 62 32 30 0.48 upstream;downstream rs16988242 MRPS26;GNRH2 UN 0.251797 0.4008 Uncertain 20_3027220_G->A 20 3027220 3027220 G A snp 488.77 0/1 99 60 38 22 0.37 intronic rs2277757 MRPS26 AU NM_030811 exon3 c.545-39G>A 0.242812 0.3978 0.152377 0.2587 0.4638 Uncertain 20_3052951_-->A 20 3052951 3052951 - A indel 1067.73 0/1 99 79 46 33 0.42 intronic rs34097556 OXT AU NM_000915 exon2 c.623+27insA 0.174905 0.1645 0.0779 Uncertain 20_3053255_C->A 20 3053255 3053255 C A snp 108.77 0/1 99 9 3 6 0.67 downstream rs2740210 OXT AU 0.266773 0.248 Uncertain 20_3063161_T->C 20 3063161 3063161 T C snp 128.03 1/1 12 5 0 5 1.0 downstream rs1887854 AVP AD 0.923323 0.9276 Uncertain 20_3063590_C->G 20 3063590 3063590 C G snp 125.78 0/1 25 7 2 5 0.71 intronic AVP AD NM_000490 exon2 c.347-32C>G Uncertain 20_3091115_C->G 20 3091115 3091115 C G snp 349.78 1/1 27 9 0 9 1.0 ncRNA_intronic rs2422845 UBOX5-AS1 AU 0.81849 0.998 Uncertain 20_3146039_C->- 20 3146039 3146039 C - indel 116.87 1/1 15 5 0 5 1.0 intronic rs201973300 LZTS3 AU NM_001282533 exon2 c.1043-103delC 0.126797 0.3472 Uncertain 20_3147024_G->A 20 3147024 3147024 G A snp 3255.77 1/1 99 121 0 121 1.0 intronic rs7260750 LZTS3 AU NM_001282533 exon3 c.1907+18G>A 0.826078 0.9663 0.734650 0.7040 0.9451 Uncertain 20_3147762_A->G 20 3147762 3147762 A G snp 2242.77 1/1 99 85 0 85 1.0 exonic rs6051612 LZTS3 AU synonymous SNV NM_001282533 exon3 c.T48C p.D16D 0.942292 0.9425 0.954222 0.9723 0.9543 Uncertain 20_3171628_G->A 20 3171628 3171628 G A snp 68.77 0/1 97 10 7 3 0.3 intronic rs2295546 DDRGK1 AU NM_023935 exon1 c.167+163G>A 0.350839 0.3968 Uncertain 20_3172246_A->C 20 3172246 3172246 A C snp 749.77 0/1 99 54 26 28 0.52 intronic rs2295547 DDRGK1 AU NM_023935 exon3 c.1112-164A>C 0.351637 0.4008 0.3832 0.3966 1 T 0.0 P -0.962 T Uncertain 20_3175556_C->G 20 3175556 3175556 C G snp 1835.77 1/1 99 65 1 64 0.98 intronic rs2295549 DDRGK1 AU NM_023935 exon4 c.4216+42C>G 0.415136 0.5129 0.337204 0.3858 0.4972 Uncertain 20_3175694_G->A 20 3175694 3175694 G A snp 77.77 0/1 69 5 2 3 0.6 intronic rs2295550 DDRGK1 AU NM_023935 exon4 c.4216+180G>A 0.439097 0.3998 Uncertain 20_3175742_A->G 20 3175742 3175742 A G snp 211.77 0/1 99 12 5 7 0.58 intronic rs2295551 DDRGK1 AU NM_023935 exon5 c.4578-134A>G 0.366014 0.4008 Uncertain 20_3176009_T->C 20 3176009 3176009 T C snp 1115.77 0/1 99 98 53 45 0.46 intronic rs2295552 DDRGK1 AU NM_023935 exon5 c.4701+10T>C 0.433107 0.4028 0.415885 0.4148 0.3669 Uncertain 20_3184134_C->T 20 3184134 3184134 C T snp 304.77 0/1 99 49 35 14 0.29 intronic rs2295553 DDRGK1 AU NM_023935 exon8 c.12764+72C>T 0.542532 0.4712 Uncertain 20_3190039_C->G 20 3190039 3190039 C G snp 825.77 1/1 63 22 0 22 1.0 UTR5 rs45620433 ITPA AR,AU 0.264177 0.3204 Uncertain 20_3193978_G->A 20 3193978 3193978 G A snp 2951.77 1/1 99 109 1 108 0.99 exonic rs8362 ITPA AR,AU synonymous SNV NM_033453 exon3 c.G138A p.Q46Q 0.470447 0.6131 0.339920 0.3520 0.5959 Uncertain 20_3199373_G->A 20 3199373 3199373 G A snp 1050.77 1/1 78 30 0 30 1.0 intronic rs2422861 ITPA AR,AU NM_033453 exon6 c.9081+95G>A 0.935903 0.999 Uncertain 20_3203950_T->A 20 3203950 3203950 T A snp 3069.77 1/1 99 125 0 125 1.0 intronic rs2236206 ITPA AR,AU NM_033453 exon8 c.13814-61T>A 0.591454 0.627 Uncertain 20_3204084_G->A 20 3204084 3204084 G A snp 3195.8 1/1 99 115 0 115 1.0 exonic rs9101 ITPA AR,AU synonymous SNV NM_033453 exon8 c.G561A p.E187E 0.340455 0.5089 0.227049 0.3257 0.5030 Uncertain 20_3209371_G->A 20 3209371 3209371 G A snp 2720.77 0/1 99 192 76 116 0.6 intronic rs2281575 SLC4A11 AU,AR NM_032034 exon3 c.921+18G>A 0.494209 0.7133 0.394012 0.4477 0.7034 Uncertain 20_3210692_A->G 20 3210692 3210692 A G snp 227.77 0/1 99 13 6 7 0.54 intronic rs6139039 SLC4A11 AU,AR NM_032034 exon8 c.2400-140A>G 0.666534 0.63 Uncertain 20_3211064_A->C 20 3211064 3211064 A C snp 670.77 1/1 51 20 0 20 1.0 intronic rs3810561 SLC4A11 AU,AR NM_032034 exon9 c.2728-96A>C 0.788339 0.8889 Uncertain 20_3211719_T->G 20 3211719 3211719 T G snp 5924.77 1/1 99 227 0 227 1.0 intronic rs3803953 SLC4A11 AU,AR NM_032034 exon11 c.3272+15T>G 0.400559 0.4544 0.4456 0.4805 Uncertain 20_3214020_G->T 20 3214020 3214020 G T snp 555.77 0/1 99 24 8 16 0.67 intronic rs2144771 SLC4A11 AU,AR NM_032034 exon14 c.5727-139G>T 0.552316 0.5437 Uncertain 20_3214126_C->T 20 3214126 3214126 C T snp 6529.77 1/1 99 249 2 247 0.99 intronic rs3803955 SLC4A11 AU,AR NM_032034 exon14 c.5727-33C>T 0.2498 0.3026 0.171229 0.2512 0.2707 Uncertain 20_3236015_A->G 20 3236015 3236015 A G snp 1214.77 1/1 57 39 1 38 0.97 intronic rs1569942 C20orf194 AU NM_001009984 exon3 c.2713+85A>G 0.981829 1 Uncertain 20_3285140_T->C 20 3285140 3285140 T C snp 3536.77 1/1 99 123 0 123 1.0 exonic rs2422864 C20orf194 AU nonsynonymous SNV NM_001009984 exon21 c.A1729G p.R577G 0.933706 1 0.878271 0.8795 0.9998 1 T 0.000 P -0.957 T 0.0 T 0.0 T Pathogenic 20_3311439_T->- 20 3311439 3311439 T - indel 104.73 0/1 99 47 15 32 0.68 intronic C20orf194 AU NM_001009984 exon26 c.78112+110delT Uncertain 20_3355567_T->C 20 3355567 3355567 T C snp 1118.77 1/1 81 34 0 34 1.0 intronic rs2208030 C20orf194 AU NM_001009984 exon33 c.122459-109T>C 0.511981 0.4861 Uncertain 20_3361908_G->A 20 3361908 3361908 G A snp 50.74 1/1 6 2 0 2 1.0 intronic rs2008901 C20orf194 AU NM_001009984 exon35 c.128808-117G>A 0.383786 0.3095 Uncertain 20_3541633_A->G 20 3541633 3541633 A G snp 1486.77 1/1 99 46 0 46 1.0 intronic rs235577 ATRN AU NM_001207047 exon8 c.89833+81A>G 0.920527 0.999 Uncertain 20_3553300_A->- 20 3553300 3553300 A - indel 150.74 0/1 25 13 3 10 0.77 intronic rs11475024 ATRN AU NM_001207047 exon12 c.101658-77delA 0.797724 0.8115 Uncertain 20_3557342_-->TCTGTCTGTCTATCTA 20 3557342 3557342 - TCTGTCTGTCTATCTA indel 1170.77 1/1 21 7 0 7 1.0 intronic rs11472378 ATRN AU NM_001207047 exon14 c.105786-163insTCTGTCTGTCTATCTA Uncertain 20_3564672_C->T 20 3564672 3564672 C T snp 2352.77 1/1 99 83 0 83 1.0 exonic rs235540 ATRN AU synonymous SNV NM_139321 exon17 c.C2892T p.Y964Y 0.824481 0.999 0.731047 0.7870 0.9988 Uncertain 20_3564772_T->A 20 3564772 3564772 T A snp 687.77 1/1 54 20 0 20 1.0 intronic rs170976 ATRN AU NM_001207047 exon17 c.113011+42T>A 0.824481 0.999 0.731124 0.7867 0.9988 Uncertain 20_3565546_C->G 20 3565546 3565546 C G snp 5021.77 1/1 99 177 0 177 1.0 intronic rs235538 ATRN AU NM_001207047 exon18 c.113808+19C>G 0.824481 0.999 0.732047 0.7878 0.9988 Uncertain 20_3575248_G->C 20 3575248 3575248 G C snp 2744.77 1/1 99 89 0 89 1.0 intronic rs235532 ATRN AU NM_001207047 exon20 c.123500+29G>C 0.82528 0.999 0.731893 0.7884 0.9987 Uncertain 20_3640467_C->T 20 3640467 3640467 C T snp 2597.77 1/1 99 83 0 83 1.0 UTR3 rs635674 GFRA4 AU 0.69349 0.6478 Uncertain 20_3640823_C->T 20 3640823 3640823 C T snp 1418.77 1/1 99 51 0 51 1.0 exonic rs2853208 GFRA4 AU synonymous SNV NM_145762 exon4 c.G801A p.P267P 0.379393 0.4117 0.385513 0.5301 0.5032 Uncertain 20_3649431_A->G 20 3649431 3649431 A G snp 46.77 0/1 33 3 1 2 0.67 UTR3 rs677044 ADAM33 AU 0.265775 0.249 Uncertain 20_3649713_A->G 20 3649713 3649713 A G snp 420.77 0/1 99 50 32 18 0.36 intronic rs628965 ADAM33 AU NM_025220 exon1 c.38+66A>G 0.65655 0.5486 0.663382 Uncertain 20_3649721_T->C 20 3649721 3649721 T C snp 332.77 0/1 99 45 29 16 0.36 intronic rs628977 ADAM33 AU NM_025220 exon1 c.38+74T>C 0.658347 0.5496 0.664258 Uncertain 20_3649803_G->C 20 3649803 3649803 G C snp 188.77 0/1 99 21 11 10 0.48 intronic rs678881 ADAM33 AU NM_025220 exon2 c.336-142G>C 0.191294 0.1091 Uncertain 20_3650066_C->A 20 3650066 3650066 C A snp 454.77 1/1 36 14 0 14 1.0 intronic rs630712 ADAM33 AU NM_025220 exon2 c.408+49C>A 0.839657 0.6558 0.896984 0.8595 0.6934 Uncertain 20_3653330_C->G 20 3653330 3653330 C G snp 1067.77 0/1 99 83 37 46 0.55 intronic ADAM33 AU NM_025220 exon11 c.3758-37C>G Uncertain 20_3653709_C->A 20 3653709 3653709 C A snp 212.77 0/1 99 12 5 7 0.58 intronic rs2280094 ADAM33 AU NM_025220 exon11 c.3936+164C>A 0.195088 0.1131 Uncertain 20_3655943_C->G 20 3655943 3655943 C G snp 54.74 1/1 6 2 0 2 1.0 intronic rs2787095 ADAM33 AU NM_025220 exon19 c.6143+191C>G 0.403754 0.3492 Uncertain 20_3657803_A->G 20 3657803 3657803 A G snp 1707.77 1/1 99 62 0 62 1.0 intronic rs568251 ADAM33 AU NM_025220 exon20 c.8181+13A>G 0.904752 0.9702 0.683867 0.8702 0.9710 Uncertain 20_3657804_T->A 20 3657804 3657804 T A snp 1676.77 1/1 99 62 0 62 1.0 intronic rs597165 ADAM33 AU NM_025220 exon20 c.8181+14T>A 0.904952 0.9702 0.676330 0.8704 0.9710 Uncertain 20_3670945_C->A 20 3670945 3670945 C A snp 990.77 1/1 72 33 0 33 1.0 intronic rs609203 SIGLEC1 AU NM_023068 exon4 c.1705+34C>A 0.305312 0.628 0.170650 0.3042 0.6478 Uncertain 20_3671800_G->A 20 3671800 3671800 G A snp 37.77 0/1 66 4 2 2 0.5 intronic rs4815596 SIGLEC1 AU NM_023068 exon5 c.2780-186G>A 0.21845 0.372 Uncertain 20_3672389_T->G 20 3672389 3672389 T G snp 30.77 0/1 59 6 3 3 0.5 intronic rs45611736 SIGLEC1 AU NM_023068 exon5 c.3041+142T>G 0.0439297 0.0972 Uncertain 20_3673445_C->T 20 3673445 3673445 C T snp 1937.77 0/1 99 152 80 72 0.47 intronic rs3746637 SIGLEC1 AU NM_023068 exon7 c.4213+26C>T 0.211861 0.3581 0.179683 0.1669 0.3416 Uncertain 20_3673815_A->G 20 3673815 3673815 A G snp 1281.77 1/1 90 47 0 47 1.0 intronic rs2474436 SIGLEC1 AU NM_023068 exon8 c.4572+37A>G 0.803115 0.8621 0.744443 0.7429 0.8610 Uncertain 20_3674064_G->C 20 3674064 3674064 G C snp 1209.77 0/1 99 82 35 47 0.57 intronic rs3827110 SIGLEC1 AU NM_023068 exon9 c.4887-29G>C 0.125998 0.0933 0.145144 0.1070 0.1075 Uncertain 20_3674822_AC->- 20 3674822 3674823 AC - indel 665.73 0/1 99 49 20 29 0.59 intronic SIGLEC1 AU NM_023068 exon10 c.5661-45_5661-44delAC Uncertain 20_3675333_G->A 20 3675333 3675333 G A snp 1455.77 0/1 99 89 36 53 0.6 exonic rs3746638 SIGLEC1 AU nonsynonymous SNV NM_023068 exon11 c.C2921T p.A974V 0.584864 0.7629 0.487544 0.5684 0.7553 0.57 T 0.002 P -1.115 T 0.295 T 0.132 T Pathogenic 20_3675498_T->G 20 3675498 3675498 T G snp 4766.77 1/1 99 179 0 179 1.0 exonic rs709012 SIGLEC1 AU nonsynonymous SNV NM_023068 exon11 c.A2756C p.H919P 0.741414 0.869 0.666539 0.6838 0.8729 1 T 0.000 P -0.993 T 0.0 T 0.0 T Pathogenic 20_3677095_-->GCTG 20 3677095 3677095 - GCTG indel 551.74 1/1 27 9 0 9 1.0 intronic rs11471725 SIGLEC1 AU NM_023068 exon12 c.8026-137insGCTG 0.671126 0.7659 Uncertain 20_3677357_T->C 20 3677357 3677357 T C snp 5362.77 1/1 99 199 0 199 1.0 exonic rs501538 SIGLEC1 AU synonymous SNV NM_023068 exon10 c.A2559G p.K853K 0.994409 1 0.989697 0.9891 1 Uncertain 20_3677736_T->G 20 3677736 3677736 T G snp 530.77 0/1 99 44 22 22 0.5 exonic rs673114 SIGLEC1 AU synonymous SNV NM_023068 exon9 c.A2376C p.V792V 0.717652 0.7708 0.662642 0.6631 0.7618 Uncertain 20_3678792_A->C 20 3678792 3678792 A C snp 797.77 0/1 99 67 30 37 0.55 intronic rs41297628 SIGLEC1 AU NM_023068 exon14 c.9574+12A>C 0.0413339 0.1052 0.043238 0.0775 0.1558 Uncertain 20_3678841_G->T 20 3678841 3678841 G T snp 493.77 0/1 99 44 21 23 0.52 intronic rs76500013 SIGLEC1 AU NM_023068 exon14 c.9574+61G>T 0.0413339 0.1052 Uncertain 20_3682011_G->A 20 3682011 3682011 G A snp 1819.77 0/1 99 152 82 70 0.46 exonic rs1018493 SIGLEC1 AU synonymous SNV NM_023068 exon6 c.C1506T p.S502S 0.715855 0.7619 0.646471 0.6712 0.7544 Uncertain 20_3682242_C->T 20 3682242 3682242 C T snp 884.77 0/1 99 85 43 42 0.49 exonic rs45472900 SIGLEC1 AU synonymous SNV NM_023068 exon6 c.G1275A p.A425A 0.0407348 0.1012 0.051745 0.0612 0.1181 Uncertain 20_3682275_A->G 20 3682275 3682275 A G snp 576.77 0/1 99 45 24 21 0.47 exonic rs1018492 SIGLEC1 AU synonymous SNV NM_023068 exon6 c.T1242C p.T414T 0.716054 0.7629 0.646240 0.6676 0.7529 Uncertain 20_3684022_A->G 20 3684022 3684022 A G snp 2588.77 0/1 99 229 119 110 0.48 exonic rs611847 SIGLEC1 AU synonymous SNV NM_023068 exon5 c.T1050C p.N350N 0.616813 0.6815 0.619176 0.6490 0.6723 Uncertain 20_3684426_C->T 20 3684426 3684426 C T snp 2565.77 0/1 99 198 93 105 0.53 intronic rs1005885 SIGLEC1 AU NM_023068 exon18 c.15265-45C>T 0.0750799 0.1052 0.085038 0.0678 0.1188 Uncertain 20_3684729_T->C 20 3684729 3684729 T C snp 1778.77 0/1 99 109 46 63 0.58 exonic rs625372 SIGLEC1 AU nonsynonymous SNV NM_023068 exon4 c.A716G p.K239R 0.61242 0.6766 0.616177 0.6462 0.6715 0.48 T 0.000 P -0.989 T 0.057 T 0.05 T Pathogenic 20_3686248_A->G 20 3686248 3686248 A G snp 452.77 0/1 99 34 19 15 0.44 intronic rs55742084 SIGLEC1 AU NM_023068 exon19 c.17184-142A>G 0.0561102 0.1171 Uncertain 20_3686436_C->T 20 3686436 3686436 C T snp 3005.77 0/1 99 238 109 129 0.54 exonic rs6037651 SIGLEC1 AU nonsynonymous SNV NM_023068 exon3 c.G661A p.V221M 0.690895 0.747 0.634400 0.6570 0.7446 0.23 T 0.0 P -0.967 T 0.196 T 0.086 T Pathogenic 20_3723091_A->G 20 3723091 3723091 A G snp 954.77 0/1 99 62 26 36 0.58 intronic rs611073 HSPA12B AU NM_052970 exon4 c.3734+36A>G 0.919529 0.9137 0.916577 0.9422 0.8974 Uncertain 20_3730184_T->C 20 3730184 3730184 T C snp 56.74 1/1 6 2 0 2 1.0 intronic rs3803961 HSPA12B AU NM_052970 exon10 c.11075-212T>C 0.0585064 0.1538 Uncertain 20_3731622_C->T 20 3731622 3731622 C T snp 1225.77 0/1 99 103 54 49 0.48 intronic rs2474437 HSPA12B AU NM_052970 exon12 c.12233+68C>T 0.403155 0.4554 0.350197 Uncertain 20_3732225_G->A 20 3732225 3732225 G A snp 1008.77 0/1 99 111 65 46 0.41 exonic rs60858447 HSPA12B AU synonymous SNV NM_001197327 exon13 c.G1470A p.E490E 0.101837 0.1667 0.028190 0.1806 0.2157 Uncertain 20_3732633_C->T 20 3732633 3732633 C T snp 2925.77 0/1 99 250 135 115 0.46 exonic rs541760 HSPA12B AU synonymous SNV NM_001197327 exon13 c.C1878T p.C626C 0.589856 0.6121 0.611180 0.6578 0.6447 Uncertain 20_3740621_CA->- 20 3740621 3740622 CA - indel 7379.73 1/1 99 177 0 177 1.0 intronic rs11470482 C20orf27 AU NM_001039140 exon5 c.5949-32_5949-31delCA 0.000399361 0.7336 0.7526 Uncertain 20_3740874_T->C 20 3740874 3740874 T C snp 135.03 1/1 12 4 0 4 1.0 intronic rs484597 C20orf27 AU NM_001039140 exon5 c.6129+41T>C 0.745208 0.7837 Uncertain 20_3759200_G->A 20 3759200 3759200 G A snp 2353.77 1/1 99 79 1 78 0.99 intronic rs2281477 SPEF1 AU NM_015417 exon2 c.333+9G>A 0.516973 0.631 0.530023 0.5638 0.6469 Uncertain 20_3759528_C->T 20 3759528 3759528 C T snp 7078.77 1/1 99 250 0 250 1.0 intronic rs2281478 SPEF1 AU NM_015417 exon4 c.739-69C>T 0.509984 0.623 0.521025 Uncertain 20_3760548_G->A 20 3760548 3760548 G A snp 141.03 1/1 12 4 0 4 1.0 intronic rs6116037 SPEF1 AU NM_015417 exon6 c.1564+126G>A 0.7502 0.7143 Uncertain 20_3778042_T->A 20 3778042 3778042 T A snp 54.74 1/1 6 2 0 2 1.0 intronic rs4815606 CDC25B AU NM_021873 exon2 c.1090-226T>A 0.674521 0.7044 Uncertain 20_3778433_T->C 20 3778433 3778433 T C snp 1752.77 1/1 99 59 0 59 1.0 intronic rs3746644 CDC25B AU NM_021873 exon2 c.1218+37T>C 0.652556 0.7044 0.583820 0.5487 0.6920 Uncertain 20_3780857_-->GGACTGGAGACCTGGTGCTAG 20 3780857 3780857 - GGACTGGAGACCTGGTGCTAG indel 2798.73 1/1 36 12 0 12 1.0 UTR5 rs140901750 CDC25B AU 0.524361 0.5724 0.455976 Uncertain 20_3783649_G->C 20 3783649 3783649 G C snp 7004.77 1/1 99 245 1 244 1.0 intronic rs592687 CDC25B AU NM_021873 exon12 c.6441+30G>C 0.998403 1 0.996309 0.9967 0.9999 Uncertain 20_3784110_C->T 20 3784110 3784110 C T snp 2914.77 0/1 99 250 134 116 0.46 exonic rs1056720 CDC25B AU synonymous SNV NM_001287524 exon10 c.C840T p.I280I 0.230032 0.377 0.204982 0.2474 0.3533 Uncertain 20_3842984_C->T 20 3842984 3842984 C T snp 3483.77 1/1 99 129 0 129 1.0 exonic rs2326369 MAVS AU synonymous SNV NM_020746 exon5 c.C549T p.D183D 0.146366 0.247 0.102107 0.0926 0.2309 Uncertain 20_3870124_G->C 20 3870124 3870124 G C snp 2862.77 1/1 99 109 0 109 1.0 exonic rs3737084 PANK2 AR nonsynonymous SNV NM_153638 exon1 c.G377C p.G126A 0.879193 0.7946 0.936692 0.8654 0.8246 1 T 0.000 P -0.950 T 0.0 T 0.0 T CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000082679.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 20_3870410_C->T 20 3870410 3870410 C T snp 2430.77 1/1 99 90 2 88 0.98 intronic rs73610117 PANK2 AR NM_153638 exon1 c.628+35C>T 0.0888578 0.246 0.025596 0.0725 0.2680 Uncertain 20_4053254_A->G 20 4053254 4053254 A G snp 2483.77 1/1 99 96 0 96 1.0 intergenic rs6139288 RNF24 AU 0.57508 0.7282 0.6968 0.7317 0 D -1.072 T Uncertain 20_4055656_C->A 20 4055656 4055656 C A snp 397.77 0/1 99 32 15 17 0.53 intergenic rs6139292 RNF24 AU 0.27516 0.2222 Uncertain 20_4155648_C->T 20 4155648 4155648 C T snp 80.77 0/1 99 8 4 4 0.5 intronic rs2295482 SMOX AU 0.291534 0.3442 Uncertain 20_4155935_G->T 20 4155935 4155935 G T snp 1802.77 0/1 99 160 79 81 0.51 intronic rs2295484 SMOX AU NM_175842 exon2 c.208+25G>T 0.435304 0.4345 0.349377 0.3199 0.4368 Uncertain 20_4155948_G->A 20 4155948 4155948 G A snp 1708.77 0/1 99 142 70 72 0.51 intronic rs1741315 SMOX AU NM_175842 exon2 c.208+38G>A 0.282748 0.4355 0.337921 0.3783 0.4489 Uncertain 20_4157853_G->A 20 4157853 4157853 G A snp 76.77 0/1 99 11 6 5 0.45 intronic rs1535225 SMOX AU NM_175842 exon3 c.2295-144G>A 0.40615 0.3036 Uncertain 20_4157857_G->C 20 4157857 4157857 G C snp 73.77 0/1 99 12 7 5 0.42 intronic rs1538072 SMOX AU NM_175842 exon3 c.2295-140G>C 0.303315 0.244 Uncertain 20_4162411_T->C 20 4162411 4162411 T C snp 565.77 0/1 99 46 20 26 0.57 intronic rs1124983 SMOX AU NM_175842 exon4 c.6747-38T>C 0.293131 0.1905 0.409119 0.3685 0.212 Uncertain 20_4163302_A->G 20 4163302 4163302 A G snp 3110.77 0/1 99 250 130 120 0.48 exonic rs1051904 SMOX AU synonymous SNV NM_001270691 exon5 c.A1176G p.A392A 0.509385 0.4345 0.609180 0.6058 0.4421 Uncertain 20_4164283_A->G 20 4164283 4164283 A G snp 1588.77 0/1 99 118 49 69 0.58 exonic rs1741327 SMOX AU synonymous SNV NM_001270691 exon6 c.A1512G p.T504T 0.694489 0.7192 0.725419 0.7011 0.7225 Uncertain 20_4202802_A->G 20 4202802 4202802 A G snp 2658.77 1/1 99 101 0 101 1.0 intronic rs835873 ADRA1D AU NM_000678 exon1 c.608+25A>G 0.834265 0.9921 0.821519 0.8255 0.9952 Uncertain 20_4228485_G->T 20 4228485 4228485 G T snp 1454.77 0/1 99 138 76 62 0.45 intronic rs3746669 ADRA1D AU NM_000678 exon2 c.26324-8G>T 0.0784744 0.2887 0.043619 0.1209 0.3989 Uncertain 20_4229218_G->A 20 4229218 4229218 G A snp 2351.77 0/1 99 215 118 97 0.45 exonic rs3803964 ADRA1D AU synonymous SNV NM_000678 exon1 c.C387T p.T129T 0.0752796 0.0962 0.000615 0.0428 0.1023 Uncertain 20_4229514_T->C 20 4229514 4229514 T C snp 241.77 0/1 99 20 8 12 0.6 exonic rs184418609 ADRA1D AU nonsynonymous SNV NM_000678 exon1 c.A91G p.S31G 0.255591 0.2808 0.3125 0 0.7 T 0.0 P -1.056 T 0.0 T 0.0 T Pathogenic 20_4705718_C->T 20 4705718 4705718 C T snp 2128.77 0/1 99 212 122 90 0.42 exonic rs2245220 PRND AU nonsynonymous SNV NM_012409 exon2 c.C521T p.T174M 0.495208 0.253 0.538391 0.4799 0.2511 0.18 T 0.0 P -0.937 T 0.0 T 0.0 T ID=CM014824;DIS=Creutzfeldt-Jakob disease, association with;TAG=DP;PUB=11702213 DP Pathogenic 20_4705756_T->C 20 4705756 4705756 T C snp 1386.77 0/1 99 115 61 54 0.47 UTR3 rs2756263 PRND AU 0.552716 0.3998 0.564164 0.5194 0.4161 ID=CR053505;DIS=Creutzfeldt-Jakob disease, association with;TAG=DP;PUB=15986038 DP Uncertain 20_4705865_T->C 20 4705865 4705865 T C snp 83.77 0/1 30 4 1 3 0.75 UTR3 rs2756262 PRND AU 0.545727 0.3988 Uncertain 20_4713176_A->G 20 4713176 4713176 A G snp 2142.77 0/1 99 181 89 92 0.51 ncRNA_exonic rs2735677 PRNT AU 0.27496 0.371 0.226511 0.2337 0.3713 Uncertain 20_4768136_T->C 20 4768136 4768136 T C snp 1722.77 1/1 99 56 0 56 1.0 intronic rs55900827 RASSF2 AU NM_014737 exon3 c.3360-142T>C 0.480431 0.6895 Uncertain 20_4768475_-->AGGGACT 20 4768475 4768475 - AGGGACT indel 2192.73 0/1 99 54 21 33 0.61 intronic rs111533115 RASSF2 AU NM_014737 exon3 c.3482+75insAGGGACT 0.654153 0.5853 Uncertain 20_4770440_G->A 20 4770440 4770440 G A snp 180.9 1/1 15 5 0 5 1.0 intronic rs2422992 RASSF2 AU NM_014737 exon5 c.5425+97G>A 0.877995 0.9663 Uncertain 20_4771336_G->T 20 4771336 4771336 G T snp 510.77 0/1 99 22 5 17 0.77 intronic rs8122874 RASSF2 AU NM_014737 exon6 c.6339+79G>T 0.134185 0.1815 Uncertain 20_4776659_G->A 20 4776659 4776659 G A snp 1685.77 0/1 99 138 64 74 0.54 intronic rs4549182 RASSF2 AU NM_014737 exon8 c.11694+47G>A 0.244409 0.3046 0.229356 0.2612 0.3271 Uncertain 20_4837930_ACAC->- 20 4837930 4837933 ACAC - indel 1245.74 1/1 29 67 1 66 0.99 intronic rs398035250 SLC23A2 AU NM_203327 exon1 c.233+80_233+83delACAC Uncertain 20_4843370_C->T 20 4843370 4843370 C T snp 1355.77 0/1 99 102 44 58 0.57 intronic rs3737321 SLC23A2 AU NM_203327 exon4 c.5806-53C>T 0.496006 0.244 Uncertain 20_4854682_A->G 20 4854682 4854682 A G snp 1344.77 0/1 99 113 48 65 0.58 exonic rs1110277 SLC23A2 AU synonymous SNV NM_005116 exon11 c.T1002C p.D334D 0.428115 0.249 0.443872 0.3550 0.2310 1.000 P -1.131 T Likely benign 20_4864570_G->C 20 4864570 4864570 G C snp 161.77 0/1 99 26 19 7 0.27 intronic rs2298174 SLC23A2 AU NM_203327 exon9 c.26852+101G>C 0.258586 0.2391 Uncertain 20_5099636_G->A 20 5099636 5099636 G A snp 1076.77 0/1 99 64 25 39 0.61 intronic rs25406 PCNA AR NM_002592 exon5 c.3584+124G>A 0.462061 0.3869 Uncertain 20_5261029_G->A 20 5261029 5261029 G A snp 442.77 0/1 99 27 12 15 0.56 intergenic rs6038114 CDS2 AU 0.564097 0.6558 Uncertain 20_5261132_G->A 20 5261132 5261132 G A snp 1347.77 0/1 99 119 58 61 0.51 intergenic rs6038115 CDS2 AU 0.560304 0.6558 0.504534 0.5152 0.6647 Uncertain 20_5261206_T->C 20 5261206 5261206 T C snp 1346.77 0/1 99 101 45 56 0.55 intergenic rs4553880 CDS2 AU 0.557109 0.6558 Uncertain 20_5282559_A->G 20 5282559 5282559 A G snp 304.77 0/1 99 26 15 11 0.42 downstream rs3746680 PROKR2 AD 0.716054 0.6617 Uncertain 20_5283256_C->G 20 5283256 5283256 C G snp 1949.77 0/1 99 164 89 75 0.46 exonic rs3746682 PROKR2 AD synonymous SNV NM_144773 exon2 c.G585C p.T195T 0.723243 0.6627 0.735045 0.7435 0.6675 Uncertain 20_5296488_G->C 20 5296488 5296488 G C snp 2108.77 0/1 99 171 86 85 0.5 intergenic rs910971 PROKR2 AD 0.219249 0.121 0.2340 0.0960 Uncertain 20_5296549_C->T 20 5296549 5296549 C T snp 2389.77 0/1 99 198 92 106 0.54 intergenic rs910972 PROKR2 AD 0.179712 0.121 0.2261 0.0960 Uncertain 20_5296651_T->G 20 5296651 5296651 T G snp 2560.77 0/1 99 195 93 102 0.52 intergenic rs910973 PROKR2 AD 0.216254 0.12 0.2333 0.1 Uncertain 20_5297172_T->G 20 5297172 5297172 T G snp 1096.77 0/1 99 99 57 42 0.42 intergenic rs4544519 PROKR2 AD 0.221645 0.12 Uncertain 20_5297193_A->G 20 5297193 5297193 A G snp 818.77 0/1 99 75 44 31 0.41 intergenic rs4315595 PROKR2 AD 0.217452 0.12 Uncertain 20_5454400_A->T 20 5454400 5454400 A T snp 1039.77 0/1 99 149 96 53 0.36 ncRNA_exonic rs606389 LOC643406 AU 0.491414 0.2748 0.5141 0.3069 Uncertain 20_5454442_C->T 20 5454442 5454442 C T snp 947.77 0/1 99 147 93 54 0.37 ncRNA_exonic rs6139738 LOC643406 AU 0.11242 0.1488 0.1038 0.2020 Uncertain 20_5454686_A->G 20 5454686 5454686 A G snp 46.77 0/1 62 5 2 3 0.6 ncRNA_exonic rs1060236 LOC643406 AU Uncertain 20_5482307_G->A 20 5482307 5482307 G A snp 826.77 0/1 99 103 63 40 0.39 ncRNA_exonic rs6053447 LINC00654 AU 0.258586 0.2361 Uncertain 20_5528518_A->G 20 5528518 5528518 A G snp 1040.77 0/1 99 72 31 41 0.57 intronic rs3747910 GPCPD1 AU NM_019593 exon1 c.190+22A>G 0.21266 0.2361 0.213901 0.1991 0.2863 Uncertain 20_5528534_A->G 20 5528534 5528534 A G snp 742.77 0/1 99 57 28 29 0.51 intronic rs3747911 GPCPD1 AU NM_019593 exon1 c.190+38A>G 0.288938 0.4147 0.249116 0.2316 0.4403 Uncertain 20_5542052_A->G 20 5542052 5542052 A G snp 389.77 0/1 99 44 26 18 0.41 intronic rs2273371 GPCPD1 AU NM_019593 exon5 c.13804-58A>G 0.288938 0.4157 0.237061 Uncertain 20_5542092_T->C 20 5542092 5542092 T C snp 479.77 0/1 99 52 28 24 0.46 intronic rs2273372 GPCPD1 AU NM_019593 exon5 c.13804-18T>C 0.288938 0.4157 0.249769 0.2295 0.4392 Uncertain 20_5551034_G->C 20 5551034 5551034 G C snp 539.77 0/1 99 36 15 21 0.58 intronic rs1056244 GPCPD1 AU NM_019593 exon9 c.22579+149G>C 0.738618 0.7242 Uncertain 20_5564774_T->C 20 5564774 5564774 T C snp 149.77 0/1 99 14 7 7 0.5 intronic rs6053517 GPCPD1 AU NM_019593 exon15 c.36620-152T>C 0.67512 0.7242 Uncertain 20_5574134_T->C 20 5574134 5574134 T C snp 294.77 0/1 99 32 18 14 0.44 intronic rs1983694 GPCPD1 AU NM_019593 exon17 c.45751+77T>C 0.721845 0.7232 Uncertain 20_5844122_A->G 20 5844122 5844122 A G snp 2510.77 1/1 99 87 0 87 1.0 UTR3 rs1777353 C20orf196 AU 0.469848 0.4841 0.380289 0.4028 0.4987 Uncertain 20_5897186_G->C 20 5897186 5897186 G C snp 220.84 1/1 18 6 0 6 1.0 intronic rs236145 CHGB AU NM_001819 exon2 c.4739+168G>C 0.742212 0.623 Uncertain 20_5897362_G->A 20 5897362 5897362 G A snp 3612.77 1/1 99 115 0 115 1.0 intronic rs236146 CHGB AU NM_001819 exon3 c.5192-109G>A 0.216254 0.376 Uncertain 20_5897777_A->C 20 5897777 5897777 A C snp 182.9 1/1 15 5 0 5 1.0 intronic rs446658 CHGB AU NM_001819 exon3 c.5286+212A>C 0.4998 0.5476 Uncertain 20_5897778_G->C 20 5897778 5897778 G C snp 180.9 1/1 15 5 0 5 1.0 intronic rs446659 CHGB AU NM_001819 exon3 c.5286+213G>C 0.484225 0.5476 Uncertain 20_5902853_C->A 20 5902853 5902853 C A snp 50.74 1/1 6 2 0 2 1.0 intronic rs4815876 CHGB AU NM_001819 exon4 c.10701-127C>A 0.426717 0.5278 Uncertain 20_5903067_T->A 20 5903067 5903067 T A snp 3810.77 1/1 99 145 0 145 1.0 exonic rs6085324 CHGB AU nonsynonymous SNV NM_001819 exon4 c.T277A p.S93T 0.232628 0.379 0.216439 0.2748 0.3894 0.35 T 0.0 P -0.952 T 0.021 T 0.026 T Pathogenic 20_5903323_G->A 20 5903323 5903323 G A snp 2845.77 1/1 99 107 0 107 1.0 exonic rs910122 CHGB AU nonsynonymous SNV NM_001819 exon4 c.G533A p.R178Q 0.416534 0.5288 0.350069 0.4172 0.5574 0.46 T 0.0 P -0.902 T 0.0 T 0.001 T Pathogenic 20_5903517_A->G 20 5903517 5903517 A G snp 4694.77 1/1 99 161 0 161 1.0 exonic rs236151 CHGB AU nonsynonymous SNV NM_001819 exon4 c.A727G p.T243A 0.86861 0.997 0.798478 0.8029 0.9990 0.56 T 0.0 P -1.025 T 0.0 T 0.002 T Pathogenic 20_5903848_C->G 20 5903848 5903848 C G snp 3097.77 1/1 99 113 0 113 1.0 exonic rs236152 CHGB AU nonsynonymous SNV NM_001819 exon4 c.C1058G p.A353G 0.515375 0.5288 0.447947 0.4455 0.5595 0.69 T 0.0 P -0.997 T 0.0 T 0.001 T ID=CM043990;DIS=Schizophrenia, association with;TAG=DP;PUB=15219467 DP Pathogenic 20_5903894_A->G 20 5903894 5903894 A G snp 2799.77 1/1 99 94 0 94 1.0 exonic rs236153 CHGB AU synonymous SNV NM_001819 exon4 c.A1104G p.E368E 0.515176 0.5288 0.448639 0.4454 0.5606 Uncertain 20_5904040_G->A 20 5904040 5904040 G A snp 2879.77 1/1 99 104 0 104 1.0 exonic rs742711 CHGB AU nonsynonymous SNV NM_001819 exon4 c.G1250A p.R417H 0.23123 0.379 0.215131 0.2733 0.3883 0.67 T 0.0 P -0.903 T 0.013 T 0.002 T ID=CM043991;DIS=Schizophrenia, association with;TAG=DP;PUB=15219467 DP Pathogenic 20_5905472_G->T 20 5905472 5905472 G T snp 222.84 1/1 18 7 0 7 1.0 intronic rs236154 CHGB AU NM_001819 exon5 c.13338-145G>T 0.514177 0.5288 Uncertain 20_5905550_G->A 20 5905550 5905550 G A snp 1525.77 1/1 99 49 0 49 1.0 intronic rs236155 CHGB AU NM_001819 exon5 c.13338-67G>A 0.513578 0.5278 Uncertain 20_5935385_T->C 20 5935385 5935385 T C snp 2487.77 1/1 99 90 0 90 1.0 intronic rs236114 MCM8 AR NM_182802 exon4 c.2675+49T>C 0.883586 0.998 0.828618 0.8350 0.9989 Uncertain 20_5948706_A->G 20 5948706 5948706 A G snp 1127.77 1/1 81 42 0 42 1.0 intronic rs236100 MCM8 AR NM_182802 exon10 c.16010+35A>G 1 1 1 1 Uncertain 20_5948712_C->T 20 5948712 5948712 C T snp 1091.77 1/1 78 39 0 39 1.0 intronic rs236101 MCM8 AR NM_182802 exon10 c.16010+41C>T 1 1 1.0000 1 Uncertain 20_5990726_-->G 20 5990726 5990726 - G indel 453.73 1/1 36 14 0 14 1.0 intronic rs59996436 CRLS1 AU NM_019095 exon2 c.3666+168insG 0.706669 0.6091 Uncertain 20_6011882_G->T 20 6011882 6011882 G T snp 948.77 1/1 69 33 1 32 0.97 intronic rs2423132 CRLS1 AU NM_019095 exon4 c.25038-48G>T 1.0000 1 Uncertain 20_6033004_G->A 20 6033004 6033004 G A snp 1172.77 1/1 84 38 0 38 1.0 exonic rs6117050 LRRN4 AU nonsynonymous SNV NM_152611 exon2 c.C442T p.L148F 0.25 0.4266 0.132689 0.3168 0.4835 0 D 0.999 P -0.968 T 1.0 D 0.999 D Pathogenic 20_6033025_T->C 20 6033025 6033025 T C snp 1311.77 1/1 96 47 0 47 1.0 exonic rs1884643 LRRN4 AU nonsynonymous SNV NM_152611 exon2 c.A421G p.T141A 0.392173 0.4306 0.203432 0.3730 0.4966 1 T 0.0 P -0.950 T 0.0 T 0.001 T Pathogenic 20_6033628_T->G 20 6033628 6033628 T G snp 782.77 1/1 60 21 0 21 1.0 intronic rs751681 LRRN4 AU NM_152611 exon4 c.11783+178T>G 0.272564 0.4266 Uncertain 20_6033660_G->T 20 6033660 6033660 G T snp 180.9 1/1 15 5 0 5 1.0 intronic rs751682 LRRN4 AU NM_152611 exon4 c.11783+210G>T 0.285543 0.4296 Uncertain 20_6064554_A->G 20 6064554 6064554 A G snp 520.77 1/1 39 16 0 16 1.0 intronic rs753929 FERMT1 AR NM_017671 exon3 c.6867-132A>G 0.359625 0.6161 Uncertain 20_6064635_G->A 20 6064635 6064635 G A snp 2204.77 1/1 99 78 0 78 1.0 intronic rs753928 FERMT1 AR NM_017671 exon3 c.6867-51G>A 0.357029 0.6161 0.287583 Uncertain 20_6064710_A->G 20 6064710 6064710 A G snp 3047.77 1/1 99 117 0 117 1.0 exonic rs753927 FERMT1 AR synonymous SNV NM_017671 exon13 c.T1695C p.F565F 0.395767 0.6161 0.359680 0.3683 0.6293 Uncertain 20_6064839_T->C 20 6064839 6064839 T C snp 806.77 1/1 60 25 0 25 1.0 intronic rs2232077 FERMT1 AR NM_017671 exon3 c.6992+28T>C 0.760783 0.8442 0.695910 0.7141 0.8447 Uncertain 20_6065729_C->T 20 6065729 6065729 C T snp 3742.77 1/1 99 144 0 144 1.0 exonic rs2232074 FERMT1 AR nonsynonymous SNV NM_017671 exon12 c.G1577A p.R526K 0.457069 0.6409 0.062663 0.3977 0.6498 1 T 0.302 P -0.915 T 0.0 T 0.0 T Pathogenic 20_6065731_T->C 20 6065731 6065731 T C snp 3815.77 1/1 99 145 0 145 1.0 exonic rs2232073 FERMT1 AR synonymous SNV NM_017671 exon12 c.A1575G p.K525K 0.457069 0.6409 0.065893 0.3978 0.6495 Uncertain 20_6069562_C->T 20 6069562 6069562 C T snp 1594.77 1/1 99 59 0 59 1.0 intronic rs6117076 FERMT1 AR NM_017671 exon6 c.11792-49C>T 0.309904 0.2927 0.281024 0.3157 0.2935 Uncertain 20_6096695_C->T 20 6096695 6096695 C T snp 2470.77 1/1 99 97 1 96 0.99 splicing rs2295435 FERMT1 AR NM_017671 exon13 c.38872+4C>T 0.419329 0.2986 0.407043 0.4489 0.3146 Pathogenic 20_6100002_C->A 20 6100002 6100002 C A snp 1488.77 1/1 99 50 0 50 1.0 intronic rs6038363 FERMT1 AR NM_017671 exon14 c.42231-48C>A 1 1 1 1 Uncertain 20_6100088_A->G 20 6100088 6100088 A G snp 2648.77 1/1 99 102 0 102 1.0 exonic rs10373 FERMT1 AR synonymous SNV NM_017671 exon2 c.T114C p.H38H 0.524561 0.377 0.532370 0.5243 0.3813 Uncertain 20_6100230_A->C 20 6100230 6100230 A C snp 1348.77 1/1 96 48 0 48 1.0 intronic rs2273423 FERMT1 AR NM_017671 exon14 c.42400+11A>C 0.708466 0.8452 0.599185 0.6356 0.8481 Uncertain 20_6751034_A->G 20 6751034 6751034 A G snp 6995.77 1/1 99 240 0 240 1.0 exonic rs1049007 BMP2 AR,AD synonymous SNV NM_001200 exon2 c.A261G p.S87S 0.746006 0.8433 0.708263 0.6723 0.8274 Uncertain 20_6759115_A->T 20 6759115 6759115 A T snp 6381.77 1/1 99 240 1 239 1.0 exonic rs235768 BMP2 AR,AD nonsynonymous SNV NM_001200 exon3 c.A570T p.R190S 0.766773 0.8284 0.729314 0.6743 0.8176 0.01 T 1.000 P -1.044 T 0.978 D 0.871 D ID=CM1314426;DIS=Ossification of the posterior longitudinal ligament of the spine, predisposition to;TAG=DFP;PUB=23506588 DFP Pathogenic 20_7887025_G->C 20 7887025 7887025 G C snp 707.77 1/1 54 22 0 22 1.0 intronic rs6055387 HAO1 AU NM_017545 exon5 c.22737+49G>C 0.685903 0.9911 0.485187 0.5007 0.9949 Uncertain 20_7967980_G->C 20 7967980 7967980 G C snp 1002.77 0/1 99 86 40 46 0.53 exonic rs17425725 TMX4 AU synonymous SNV NM_021156 exon6 c.C570G p.V190V 0.0694888 0.0437 0.112871 0.1202 0.0329 Uncertain 20_7980390_C->T 20 7980390 7980390 C T snp 3467.77 1/1 99 124 0 124 1.0 exonic rs1012891 TMX4 AU synonymous SNV NM_021156 exon4 c.G456A p.P152P 0.350639 0.3562 0.286483 0.3318 0.3569 Uncertain 20_7980647_G->C 20 7980647 7980647 G C snp 54.74 1/1 6 2 0 2 1.0 intronic rs932304 TMX4 AU NM_021156 exon5 c.17610+140G>C 0.729633 0.9484 Uncertain 20_7999537_C->A 20 7999537 7999537 C A snp 2686.77 1/1 99 89 0 89 1.0 intronic rs2294247 TMX4 AU NM_021156 exon8 c.37187-547C>A 0.723842 0.9504 Uncertain 20_7999642_G->A 20 7999642 7999642 G A snp 2834.77 0/1 99 245 120 125 0.51 intronic rs2294248 TMX4 AU NM_021156 exon8 c.37187-442G>A 0.510583 0.8284 0.4234 0.8182 Uncertain 20_7999850_G->C 20 7999850 7999850 G C snp 359.77 0/1 99 21 8 13 0.62 intronic rs6055462 TMX4 AU NM_021156 exon8 c.37187-234G>C 0.51278 0.8363 Uncertain 20_8637727_G->A 20 8637727 8637727 G A snp 863.77 1/1 66 26 0 26 1.0 intronic rs6140670 PLCB1 AR NM_182734 exon8 c.524532-103G>A 0.743211 0.5923 Uncertain 20_8665751_C->G 20 8665751 8665751 C G snp 1264.77 0/1 99 89 41 48 0.54 intronic rs2273189 PLCB1 AR NM_182734 exon10 c.552427+26C>G 0.124201 0.3373 0.050515 0.0958 0.3207 Uncertain 20_8665793_T->C 20 8665793 8665793 T C snp 712.77 0/1 99 43 20 23 0.53 intronic rs2273190 PLCB1 AR NM_182734 exon10 c.552427+68T>C 0.124201 0.3373 Uncertain 20_8678446_G->A 20 8678446 8678446 G A snp 613.77 0/1 99 50 27 23 0.46 intronic rs2295179 PLCB1 AR NM_182734 exon11 c.565132+16G>A 0.532947 0.5417 0.575734 0.6253 0.5845 Uncertain 20_8678554_C->T 20 8678554 8678554 C T snp 78.77 0/1 69 5 2 3 0.6 intronic rs2295180 PLCB1 AR NM_182734 exon11 c.565132+124C>T 0.134185 0.3472 Uncertain 20_8696722_C->T 20 8696722 8696722 C T snp 223.77 0/1 99 11 4 7 0.64 intronic rs2076690 PLCB1 AR NM_182734 exon13 c.583612-188C>T 0.233027 0.3681 Uncertain 20_8696907_T->G 20 8696907 8696907 T G snp 3165.77 0/1 99 250 122 128 0.51 splicing rs2076689 PLCB1 AR NM_182734 exon13 c.583612-3T>G 0.134984 0.3581 0.077810 0.1216 0.3355 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000117921.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 20_8698565_T->C 20 8698565 8698565 T C snp 296.77 0/1 99 18 8 10 0.56 intronic rs6039243 PLCB1 AR NM_182734 exon14 c.585197+70T>C 0.588658 0.5327 Uncertain 20_8702867_T->C 20 8702867 8702867 T C snp 254.8 1/1 21 7 0 7 1.0 intronic rs6056041 PLCB1 AR NM_182734 exon15 c.589702-133T>C 0.917133 0.996 Uncertain 20_8703145_C->G 20 8703145 8703145 C G snp 4342.77 1/1 99 151 0 151 1.0 intronic rs6086563 PLCB1 AR NM_182734 exon15 c.589770+77C>G 0.662141 0.7887 Uncertain 20_8705496_A->C 20 8705496 8705496 A C snp 816.77 1/1 30 27 1 26 0.96 intronic rs6056043 PLCB1 AR NM_182734 exon16 c.592101+97A>C 0.947883 1 Uncertain 20_8705552_A->T 20 8705552 8705552 A T snp 182.9 1/1 15 5 0 5 1.0 intronic rs2327097 PLCB1 AR NM_182734 exon16 c.592101+153A>T 0.665335 0.7956 Uncertain 20_8707900_A->G 20 8707900 8707900 A G snp 388.77 0/1 99 38 23 15 0.39 intronic rs1015171 PLCB1 AR NM_182734 exon17 c.594657-55A>G 0.470847 0.7758 Uncertain 20_8707927_C->T 20 8707927 8707927 C T snp 664.77 0/1 99 66 40 26 0.39 intronic rs1015170 PLCB1 AR NM_182734 exon17 c.594657-28C>T 0.476438 0.7748 0.323308 0.4522 0.7631 Uncertain 20_8708166_A->G 20 8708166 8708166 A G snp 429.77 0/1 99 34 18 16 0.47 intronic rs17446441 PLCB1 AR NM_182734 exon17 c.594742+126A>G 0.20008 0.1329 Uncertain 20_8708203_T->C 20 8708203 8708203 T C snp 37.77 0/1 66 6 4 2 0.33 intronic rs6086567 PLCB1 AR NM_182734 exon17 c.594742+163T>C 0.188698 0.1627 Uncertain 20_8713842_G->A 20 8713842 8713842 G A snp 1161.77 1/1 84 35 0 35 1.0 intronic rs993670 PLCB1 AR NM_182734 exon19 c.600586-42G>A 0.98103 0.999 0.981624 0.9749 0.9985 Uncertain 20_8719777_G->A 20 8719777 8719777 G A snp 122.77 0/1 66 6 2 4 0.67 intronic rs6039246 PLCB1 AR NM_182734 exon21 c.606609-130G>A 0.503594 0.6885 Uncertain 20_8737734_G->A 20 8737734 8737734 G A snp 1749.77 0/1 99 131 61 70 0.53 exonic rs2076413 PLCB1 AR synonymous SNV NM_015192 exon24 c.G2565A p.A855A 0.21226 0.13 0.251884 0.2718 0.1607 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000117928.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 20_8741027_C->T 20 8741027 8741027 C T snp 512.77 0/1 99 48 23 25 0.52 intronic rs2064286 PLCB1 AR NM_182734 exon25 c.627755-26C>T 0.313498 0.3175 0.303464 0.3055 0.3110 Uncertain 20_8741247_C->T 20 8741247 8741247 C T snp 719.77 1/1 54 20 0 20 1.0 intronic rs3886935 PLCB1 AR NM_182734 exon25 c.627809+140C>T 0.914537 0.999 Uncertain 20_8755243_T->C 20 8755243 8755243 T C snp 4078.77 1/1 99 143 0 143 1.0 exonic rs2235613 PLCB1 AR synonymous SNV NM_015192 exon27 c.T2988C p.A996A 0.613219 0.4613 0.640243 0.6155 0.4915 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000117930.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 20_8755537_T->A 20 8755537 8755537 T A snp 139.03 1/1 12 5 1 4 0.8 intronic rs2235612 PLCB1 AR NM_182734 exon27 c.642068+171T>A 0.284744 0.1329 Uncertain 20_8769180_C->T 20 8769180 8769180 C T snp 4203.77 1/1 99 158 0 158 1.0 intronic rs2327089 PLCB1 AR NM_182734 exon28 c.655874+8C>T 0.896965 0.999 0.891435 0.9408 0.9984 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_multiple_submitters\x2c_no_conflicts;CLNACC=RCV000117932.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 20_8769423_T->C 20 8769423 8769423 T C snp 186.77 0/1 99 20 10 10 0.5 intronic rs2076411 PLCB1 AR NM_182734 exon29 c.656071+54T>C 0.229034 0.1339 0.257556 Uncertain 20_8769521_A->C 20 8769521 8769521 A C snp 46.77 0/1 31 3 1 2 0.67 intronic rs2076410 PLCB1 AR NM_182734 exon29 c.656071+152A>C 0.228634 0.1329 Uncertain 20_8770108_A->C 20 8770108 8770108 A C snp 1332.77 1/1 96 44 0 44 1.0 intronic rs4633993 PLCB1 AR NM_182734 exon30 c.656866-56A>C 0.896965 0.999 0.895751 Uncertain 20_8770130_A->G 20 8770130 8770130 A G snp 1867.77 1/1 99 66 0 66 1.0 intronic rs2327090 PLCB1 AR NM_182734 exon30 c.656866-34A>G 0.970847 0.999 0.969937 0.9711 0.9985 Uncertain 20_8770282_G->A 20 8770282 8770282 G A snp 1649.77 0/1 99 138 62 76 0.55 intronic rs6039269 PLCB1 AR NM_182734 exon30 c.656924+60G>A 0.323682 0.3204 0.328296 Uncertain 20_8770318_A->G 20 8770318 8770318 A G snp 1123.77 0/1 99 116 68 48 0.41 intronic rs4816086 PLCB1 AR NM_182734 exon30 c.656924+96A>G 0.210463 0.1329 Uncertain 20_8770822_C->T 20 8770822 8770822 C T snp 1046.77 0/1 99 107 58 49 0.46 exonic rs2294597 PLCB1 AR synonymous SNV NM_015192 exon31 c.C3337T p.L1113L 0.228634 0.1329 0.253345 0.2970 0.1915 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000117934.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 20_8770932_A->C 20 8770932 8770932 A C snp 1091.77 0/1 99 111 62 49 0.44 intronic rs2294598 PLCB1 AR NM_182734 exon31 c.657610+24A>C 0.229034 0.1329 0.252038 0.3062 0.1985 Uncertain 20_8773075_G->C 20 8773075 8773075 G C snp 114.77 0/1 64 7 2 5 0.71 intronic rs6056117 PLCB1 AR NM_182734 exon31 c.657610+2167G>C 0.339657 0.3313 Uncertain 20_8773096_C->A 20 8773096 8773096 C A snp 96.77 0/1 99 14 10 4 0.29 intronic rs6086599 PLCB1 AR NM_182734 exon31 c.657610+2188C>A 0.328075 0.5437 Uncertain 20_8773155_C->T 20 8773155 8773155 C T snp 2453.77 1/1 99 67 0 67 1.0 intronic rs6056118 PLCB1 AR NM_182734 exon31 c.657610+2247C>T 0.673323 0.875 Uncertain 20_8773295_T->C 20 8773295 8773295 T C snp 6877.77 1/1 99 246 0 246 1.0 intronic rs6056119 PLCB1 AR NM_182734 exon31 c.657610+2387T>C 0.886581 0.999 Uncertain 20_8773482_C->G 20 8773482 8773482 C G snp 171.9 1/1 15 5 0 5 1.0 intronic rs6056121 PLCB1 AR NM_182734 exon31 c.657610+2574C>G 0.898562 0.999 Uncertain 20_8782901_G->C 20 8782901 8782901 G C snp 633.77 1/1 48 18 0 18 1.0 intronic rs6056128 PLCB1 AR NM_182734 exon32 c.669522+81G>C 0.973842 0.999 Uncertain 20_9288522_G->A 20 9288522 9288522 G A snp 394.77 0/1 99 46 27 19 0.41 exonic rs6077510 PLCB4 AR,AD nonsynonymous SNV NM_000933 exon1 c.G61A p.A21T 0.471446 0.4692 0.516538 0.5965 0.4390 1 T 1.000 P -1.075 T 0.993 D 0.956 D Pathogenic 20_9364799_A->G 20 9364799 9364799 A G snp 923.77 0/1 99 84 49 35 0.42 intronic rs2076234 PLCB4 AR,AD NM_182797 exon12 c.76386-48A>G 0.305911 0.2282 0.295171 0.1985 0.2512 Uncertain 20_9368288_T->C 20 9368288 9368288 T C snp 77.77 0/1 99 7 4 3 0.43 intronic rs143608654 PLCB4 AR,AD NM_182797 exon13 c.79742+85T>C 0.00379393 0.0169 Uncertain 20_9417870_T->G 20 9417870 9417870 T G snp 371.77 0/1 99 27 12 15 0.56 intronic rs6086883 PLCB4 AR,AD NM_182797 exon27 c.129338+71T>G 0.154952 0.2897 Uncertain 20_9417972_G->A 20 9417972 9417972 G A snp 139.03 1/1 12 4 0 4 1.0 intronic rs6056623 PLCB4 AR,AD NM_182797 exon27 c.129338+173G>A 0.262181 0.3413 Uncertain 20_9424810_A->C 20 9424810 9424810 A C snp 574.77 0/1 99 41 22 19 0.46 intronic rs6039471 PLCB4 AR,AD NM_182797 exon29 c.136363-14A>C 0.238019 0.3403 0.224846 0.1886 0.3748 Uncertain 20_9424904_C->A 20 9424904 9424904 C A snp 978.77 0/1 99 96 51 45 0.47 intronic rs6056629 PLCB4 AR,AD NM_182797 exon29 c.136429+14C>A 0.260583 0.3413 0.251000 0.1990 0.3725 Uncertain 20_9453567_T->C 20 9453567 9453567 T C snp 472.77 1/1 36 16 0 16 1.0 intronic rs2206389 PLCB4 AR,AD NM_182797 exon34 c.165033+73T>C 0.995208 1 0.984996 Uncertain 20_9497057_A->G 20 9497057 9497057 A G snp 751.77 0/1 99 59 28 31 0.53 intronic rs2232267 LAMP5 AU NM_012261 exon4 c.1509+49A>G 0.48123 0.2063 0.536906 0.4202 0.2244 Uncertain 20_9543622_C->T 20 9543622 9543622 C T snp 1093.77 0/1 99 111 62 49 0.44 exonic rs2297345 PAK7 AU nonsynonymous SNV NM_020341 exon7 c.G1532A p.S511N 0.514577 0.5427 0.471859 0.3759 0.5696 0.090 P -1.057 T 0.0 T 0.002 T Pathogenic 20_9547018_C->G 20 9547018 9547018 C G snp 1621.77 0/1 99 124 61 63 0.51 exonic rs11700112 PAK7 AU nonsynonymous SNV NM_020341 exon6 c.G1004C p.R335P 0.116414 0.2381 0.080655 0.1166 0.2313 1.000 P -1.157 T 0.808 T 0.525 P ID=CM065365;DIS=Colorectal cancer, increased risk, association with;TAG=DP;PUB=17000706 DP Pathogenic 20_9560712_A->G 20 9560712 9560712 A G snp 56.77 0/1 85 19 14 5 0.26 intronic rs3746545 PAK7 AU NM_020341 exon7 c.40683-79A>G 0.313299 0.2728 Uncertain 20_9625003_G->A 20 9625003 9625003 G A snp 3466.77 1/1 99 124 0 124 1.0 intronic rs4816157 PAK7 AU NM_020341 exon8 c.104879+16G>A 0.947284 0.998 0.952641 0.9406 0.9984 Uncertain 20_10019093_A->G 20 10019093 10019093 A G snp 6096.77 1/1 99 220 1 219 1.0 exonic rs575534 ANKEF1 AU synonymous SNV NM_198798 exon2 c.A144G p.G48G 0.565495 0.3145 0.644856 0.5759 0.3156 Uncertain 20_10026108_A->G 20 10026108 10026108 A G snp 924.77 1/1 69 24 0 24 1.0 ncRNA_intronic rs6077636 SNAP25-AS1 AU 0.215855 0.2887 Uncertain 20_10030931_C->A 20 10030931 10030931 C A snp 1987.77 1/1 99 61 0 61 1.0 ncRNA_intronic rs656111 SNAP25-AS1 AU 0.522364 0.3194 Uncertain 20_10032641_G->C 20 10032641 10032641 G C snp 144.03 1/1 12 6 0 6 1.0 ncRNA_intronic rs6141103 SNAP25-AS1 AU 0.199481 0.2927 Uncertain 20_10393145_C->G 20 10393145 10393145 C G snp 853.77 1/1 63 24 0 24 1.0 intronic rs221667 MKKS AR NM_018848 exon4 c.7283-32C>G 0.265375 0.251 0.247192 0.2490 0.3071 Uncertain 20_10579373_C->T 20 10579373 10579373 C T snp 1891.77 0/1 99 142 64 78 0.55 exonic rs78689061 SLX4IP AU nonsynonymous SNV NM_001009608 exon5 c.C289T p.R97C 0.00559105 0.0248 0.000308 0.0033 0.0324 0 D 1.000 D -1.009 T 1.0 D 0.947 D Pathogenic 20_10620386_A->G 20 10620386 10620386 A G snp 2423.77 0/1 99 215 111 104 0.48 exonic rs1051419 JAG1 AU,AD synonymous SNV NM_000214 exon26 c.T3417C p.Y1139Y 0.71266 0.494 0.727203 0.6592 0.4195 CLINSIG=non-pathogenic,non-pathogenic;CLNDBN=not_specified,not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter,criteria_provided\x2c_single_submitter;CLNACC=RCV000150844.1,RCV000125430.1;CLNDSDB=MedGen,MedGen;CLNDSDBID=CN169374,CN221809 Uncertain 20_10622501_G->C 20 10622501 10622501 G C snp 2174.77 0/1 99 210 116 94 0.45 exonic rs35761929 JAG1 AU,AD nonsynonymous SNV NM_000214 exon22 c.C2612G p.P871R 0.0529153 0.0258 0.048132 0.0662 0.0316 0.07 T 0.999 D -0.574 T 0.988 D 0.873 D CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000035330.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 ID=CM152209;DIS=Alagille syndrome;TAG=DM;PUB=25676721 DM Pathogenic 20_10624924_-->CTCA 20 10624924 10624924 - CTCA indel 1123.73 ./1 99 25 0 25 1.0 intronic JAG1 AU,AD NM_000214 exon8 c.4859-80insCTCA Uncertain 20_10624924_-->CA 20 10624924 10624924 - CA indel 1123.73 ./1 99 25 0 25 1.0 intronic rs33967297 JAG1 AU,AD NM_000214 exon8 c.4859-80insCA Uncertain 20_10633313_T->C 20 10633313 10633313 T C snp 851.77 0/1 99 59 25 34 0.58 intronic rs6040055 JAG1 AU,AD NM_000214 exon21 c.13101+67T>C 0.691494 0.5893 Uncertain 20_11008382_A->C 20 11008382 11008382 A C snp 516.77 0/1 99 37 15 22 0.59 intergenic rs4813955 LOC101929413 AU 0.200479 0.376 Uncertain 20_11009079_T->C 20 11009079 11009079 T C snp 475.77 0/1 99 23 9 14 0.61 intergenic rs45609436 LOC101929413 AU 0.200879 0.376 Uncertain 20_11791008_C->T 20 11791008 11791008 C T snp 2588.77 1/1 99 98 0 98 1.0 ncRNA_exonic rs803665 LINC00687 AU 0.947684 1 -1.020 T Uncertain 20_11830181_T->- 20 11830181 11830181 T - indel 245.73 0/1 99 30 18 12 0.4 ncRNA_intronic rs33956420 LINC00687 AU 0.661342 0.5179 Uncertain 20_11903654_G->A 20 11903654 11903654 G A snp 2844.77 0/1 99 250 134 116 0.46 exonic rs35364034 BTBD3 AU synonymous SNV NM_001282552 exon4 c.G456A p.A152A 0.0954473 0.2054 0.046901 0.0723 0.2580 Uncertain 20_12990044_T->C 20 12990044 12990044 T C snp 1003.77 0/1 99 110 58 52 0.47 intronic rs3761895 SPTLC3 AU NM_018327 exon1 c.117+12T>C 0.551917 0.5238 0.591958 0.6993 0.5382 Uncertain 20_13029764_A->C 20 13029764 13029764 A C snp 7365.77 1/1 99 250 1 249 1.0 exonic rs1431433 SPTLC3 AU synonymous SNV NM_018327 exon2 c.A289C p.R97R 0.995607 1 0.995310 0.9989 1 Uncertain 20_13029862_C->T 20 13029862 13029862 C T snp 6221.77 1/1 99 213 0 213 1.0 intronic rs919604 SPTLC3 AU NM_018327 exon2 c.39863+84C>T 0.995607 1 0.996277 0.9989 1 Uncertain 20_13029920_C->G 20 13029920 13029920 C G snp 5471.77 1/1 99 196 0 196 1.0 intronic rs934335 SPTLC3 AU NM_018327 exon2 c.39863+142C>G 0.995807 1 0.996277 0.9985 1 Uncertain 20_13053018_T->G 20 13053018 13053018 T G snp 3094.77 1/1 99 119 0 119 1.0 exonic rs243887 SPTLC3 AU nonsynonymous SNV NM_018327 exon3 c.T418G p.L140V 0.736022 0.6052 0.795370 0.7138 0.5781 0.68 T 0.001 P -0.975 T 0.004 T 0.012 T Pathogenic 20_13053035_A->G 20 13053035 13053035 A G snp 2911.77 1/1 99 108 0 108 1.0 exonic rs243888 SPTLC3 AU synonymous SNV NM_018327 exon3 c.A435G p.S145S 0.653754 0.6052 0.662561 0.6293 0.5770 Uncertain 20_13055258_C->A 20 13055258 13055258 C A snp 316.77 0/1 99 18 8 10 0.56 intronic rs6131426 SPTLC3 AU NM_018327 exon4 c.65230+113C>A 0.236222 0.2014 Uncertain 20_13055267_-->A 20 13055267 13055267 - A indel 147.73 0/1 37 12 2 10 0.83 intronic rs150837910 SPTLC3 AU NM_018327 exon4 c.65230+122insA 0.238618 0.2014 Uncertain 20_13060172_T->C 20 13060172 13060172 T C snp 301.78 1/1 24 8 0 8 1.0 intronic rs8113891 SPTLC3 AU NM_018327 exon4 c.65230+5027T>C 0.250599 0.2401 Uncertain 20_13060220_G->A 20 13060220 13060220 G A snp 1652.77 1/1 99 47 0 47 1.0 intronic rs8119959 SPTLC3 AU NM_018327 exon4 c.65230+5075G>A 0.250599 0.2401 Uncertain 20_13060331_G->A 20 13060331 13060331 G A snp 5096.77 1/1 99 192 0 192 1.0 intronic rs8120012 SPTLC3 AU NM_018327 exon4 c.65230+5186G>A 0.250599 0.2401 Uncertain 20_13071545_T->- 20 13071545 13071545 T - indel 429.73 1/1 33 11 0 11 1.0 intronic rs60921624 SPTLC3 AU NM_018327 exon5 c.81815-185delT 0.476038 0.5099 Uncertain 20_13074235_G->A 20 13074235 13074235 G A snp 3030.77 1/1 99 106 0 106 1.0 intronic rs708937 SPTLC3 AU NM_018327 exon6 c.84309+11G>A 0.97504 1 0.954236 0.9483 1 Uncertain 20_13090745_G->C 20 13090745 13090745 G C snp 674.77 0/1 99 80 34 46 0.57 intronic rs2236126 SPTLC3 AU NM_018327 exon7 c.100843-13G>C 0.397364 0.3313 0.414007 0.3396 0.3114 Uncertain 20_13134531_T->C 20 13134531 13134531 T C snp 113.77 0/1 99 10 6 4 0.4 intronic rs6033627 SPTLC3 AU NM_018327 exon10 c.144734-118T>C 0.0465256 0.0387 Uncertain 20_13134768_T->C 20 13134768 13134768 T C snp 1070.77 0/1 99 121 72 49 0.4 exonic rs6078938 SPTLC3 AU synonymous SNV NM_018327 exon10 c.T1398C p.Y466Y 0.152556 0.2262 0.139734 0.1522 0.2216 1.000 P -1.002 T Likely benign 20_13134931_C->G 20 13134931 13134931 C G snp 771.77 1/1 57 23 0 23 1.0 intronic rs2073303 SPTLC3 AU NM_018327 exon10 c.144870+146C>G 0.697484 0.6964 Uncertain 20_13144778_T->A 20 13144778 13144778 T A snp 43.77 0/1 57 4 2 2 0.5 intronic rs6041931 SPTLC3 AU NM_018327 exon12 c.155485-622T>A 0.0211661 0.0228 Uncertain 20_13145298_C->A 20 13145298 13145298 C A snp 603.77 0/1 99 57 33 24 0.42 intronic rs78800731 SPTLC3 AU NM_018327 exon12 c.155485-102C>A 0.0211661 0.0228 Uncertain 20_13698006_T->C 20 13698006 13698006 T C snp 3563.77 1/1 99 123 0 123 1.0 intronic rs4239710 ESF1 AU NM_001276380 exon2 c.2494-8T>C 0.973243 1 0.972931 0.9923 1 Uncertain 20_13740283_G->C 20 13740283 13740283 G C snp 43.77 0/1 72 4 2 2 0.5 intronic rs2297050 ESF1 AU NM_001276380 exon6 c.44818-55G>C 0.358027 0.6091 Uncertain 20_13743298_A->G 20 13743298 13743298 A G snp 344.77 0/1 99 18 6 12 0.67 intronic rs754796 ESF1 AU NM_001276380 exon6 c.44980+2798A>G 0.749002 0.8938 Uncertain 20_13747441_A->G 20 13747441 13747441 A G snp 496.77 0/1 99 41 20 21 0.51 exonic rs3180370 ESF1 AU nonsynonymous SNV NM_001276380 exon8 c.T1649C p.I550T 0.805511 0.9008 0.713056 0.7311 0.8917 0.51 T 0.0 P -1.007 T 0.094 T 0.026 T Pathogenic 20_13750448_-->A 20 13750448 13750448 - A indel 132.87 1/1 15 5 0 5 1.0 intronic rs35589194 ESF1 AU NM_001276380 exon8 c.55032-104insA 0.981829 0.996 Uncertain 20_13753124_A->C 20 13753124 13753124 A C snp 110.77 0/1 99 15 9 6 0.4 intronic rs2274674 ESF1 AU NM_001276380 exon10 c.57640-36A>C 0.244409 0.4504 0.135420 0.1665 0.4378 Uncertain 20_13755729_A->- 20 13755729 13755729 A - indel 232.74 1/1 30 16 1 15 0.94 intronic rs398035389 ESF1 AU NM_001276380 exon11 c.60282-73delA 0.64976 0.6677 Uncertain 20_13765943_CCGCGGGG->- 20 13765943 13765950 CCGCGGGG - indel 5181.73 0/1 99 161 83 78 0.48 intronic rs3831170 NDUFAF5 AR,XD,AO NM_024120 exon1 c.222+7_222+14delCCGCGGGG 0.1252 0.1022 0.165208 0.2193 0.1268 Uncertain 20_13768079_T->G 20 13768079 13768079 T G snp 807.77 0/1 99 64 35 29 0.45 intronic rs6042361 NDUFAF5 AR,XD,AO NM_024120 exon2 c.2284+81T>G 0.264976 0.4504 0.145423 Uncertain 20_13769062_T->C 20 13769062 13769062 T C snp 146.77 0/1 99 18 11 7 0.39 intronic rs73612314 NDUFAF5 AR,XD,AO NM_024120 exon3 c.3520-172T>C 0.188498 0.4425 Uncertain 20_13769127_A->G 20 13769127 13769127 A G snp 178.77 0/1 99 32 20 12 0.38 intronic rs6042362 NDUFAF5 AR,XD,AO NM_024120 exon3 c.3520-107A>G 0.815296 0.8948 Uncertain 20_13779113_T->C 20 13779113 13779113 T C snp 984.77 0/1 99 88 44 44 0.5 exonic rs2273317 NDUFAF5 AR,XD,AO synonymous SNV NM_024120 exon6 c.T486C p.H162H 0.0527157 0.1974 0.001077 0.0245 0.1858 CLINSIG=non-pathogenic;CLNDBN=not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000124050.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 ID=COSM149144;OCCURENCE=1(stomach) Uncertain 20_13782409_A->G 20 13782409 13782409 A G snp 466.77 1/1 36 15 1 14 0.93 intronic rs1015517 NDUFAF5 AR,XD,AO NM_024120 exon7 c.16615+80A>G 0.884185 0.8294 Uncertain 20_13782455_C->T 20 13782455 13782455 C T snp 90.28 1/1 9 3 0 3 1.0 intronic rs1015518 NDUFAF5 AR,XD,AO NM_024120 exon7 c.16615+126C>T 0.998602 1 Uncertain 20_13795018_A->G 20 13795018 13795018 A G snp 2076.77 0/1 99 148 58 90 0.61 intronic rs2273318 NDUFAF5 AR,XD,AO NM_024120 exon9 c.31394-2090A>G 0.264776 0.4494 0.2015 0.4545 Uncertain 20_13830102_C->T 20 13830102 13830102 C T snp 1797.77 0/1 99 154 79 75 0.49 UTR3 rs2073289 SEL1L2 AU 0.142572 0.0913 0.191297 0.2266 0.1001 Uncertain 20_13830137_A->C 20 13830137 13830137 A C snp 1754.77 0/1 99 171 90 81 0.47 exonic rs2073290 SEL1L2 AU nonsynonymous SNV NM_001271539 exon18 c.T1722G p.H574Q 0.142372 0.0903 0.189990 0.2247 0.0992 1 T 0.0 P -1.042 T 0.0 T 0.0 T Pathogenic 20_13845726_T->C 20 13845726 13845726 T C snp 147.77 0/1 99 13 8 5 0.38 intronic rs2073292 SEL1L2 AU NM_001271539 exon3 c.15682-86T>C 0.265176 0.2034 Uncertain 20_13845987_C->T 20 13845987 13845987 C T snp 4476.77 1/1 99 158 0 158 1.0 intronic rs761811 SEL1L2 AU NM_001271539 exon3 c.15757+100C>T 0.99401 1 0.987534 0.9894 0.9999 Uncertain 20_13847420_A->G 20 13847420 13847420 A G snp 4601.77 1/1 99 175 0 175 1.0 exonic rs660710 SEL1L2 AU synonymous SNV NM_001271539 exon15 c.T1332C p.L444L 0.993411 1 0.987231 0.9892 0.9999 Uncertain 20_13851047_G->A 20 13851047 13851047 G A snp 427.77 1/1 33 11 0 11 1.0 intronic rs243912 SEL1L2 AU NM_001271539 exon6 c.20719+198G>A 0.993411 1 Uncertain 20_13868745_T->C 20 13868745 13868745 T C snp 1018.77 1/1 75 30 0 30 1.0 intronic rs243910 SEL1L2 AU NM_001271539 exon12 c.38517+98T>C 0.974042 1 Uncertain 20_13971235_C->T 20 13971235 13971235 C T snp 936.77 0/1 99 81 39 42 0.52 UTR5 rs3848777 SEL1L2 AU 0.183506 0.2163 0.131406 Uncertain 20_14066276_C->T 20 14066276 14066276 C T snp 321.77 0/1 99 26 10 16 0.62 intergenic rs2990505 SEL1L2 AU 0.257788 0.1895 0.236163 0.2370 0.1848 0.1 T 1.000 P -1.081 T 0.165 T 0.111 T Uncertain 20_14306953_G->T 20 14306953 14306953 G T snp 2174.77 0/1 99 205 119 86 0.42 exonic rs6079391 FLRT3 AD nonsynonymous SNV NM_198391 exon3 c.C1200A p.H400Q 0.260783 0.1597 0.390051 0.4062 0.1644 0.3 T 0.055 P -0.913 T 0.0 T 0.0 T Pathogenic 20_14830453_C->T 20 14830453 14830453 C T snp 823.77 0/1 99 55 23 32 0.58 intergenic rs438632 MACROD2-IT1 AU 0.480631 0.3472 Uncertain 20_15480226_T->C 20 15480226 15480226 T C snp 351.77 0/1 99 25 13 12 0.48 intronic rs2180526 MACROD2 AU NM_080676 exon8 c.1504009-192T>C 0.386981 0.4484 Uncertain 20_15480308_G->T 20 15480308 15480308 G T snp 3838.77 1/1 99 138 0 138 1.0 intronic rs2145014 MACROD2 AU NM_080676 exon8 c.1504009-110G>T 0.609225 0.6994 Uncertain 20_15480548_T->A 20 15480548 15480548 T A snp 1462.77 1/1 99 48 0 48 1.0 intronic rs2145015 MACROD2 AU NM_080676 exon8 c.1504083+56T>A 0.739018 0.9127 0.654621 Uncertain 20_15874227_A->T 20 15874227 15874227 A T snp 1163.77 1/1 84 36 0 36 1.0 ncRNA_exonic rs8118541 LOC613266 AU 0.208466 0.4067 Uncertain 20_15874325_A->G 20 15874325 15874325 A G snp 4649.77 1/1 99 162 0 162 1.0 ncRNA_exonic rs932501 LOC613266 AU 0.424321 0.5496 0.4104 0.53 Uncertain 20_15874488_G->A 20 15874488 15874488 G A snp 5956.77 1/1 99 203 0 203 1.0 ncRNA_exonic rs6135591 LOC613266 AU 0.210863 0.4067 0.1917 0.4471 Uncertain 20_15874715_T->C 20 15874715 15874715 T C snp 642.77 1/1 48 19 0 19 1.0 ncRNA_exonic rs6034319 LOC613266 AU 0.239417 0.4077 Uncertain 20_15948037_A->G 20 15948037 15948037 A G snp 31.77 0/1 60 4 2 2 0.5 ncRNA_intronic rs6080064 LOC613266 AU 0.121206 0.248 Uncertain 20_15967327_A->G 20 15967327 15967327 A G snp 1538.77 1/1 99 60 0 60 1.0 intronic rs34675181 MACROD2 AU NM_001033087 exon10 c.123922-44A>G 0.371206 0.502 0.387000 0.4701 0.5193 Uncertain 20_16021720_C->T 20 16021720 16021720 C T snp 551.77 0/1 99 40 17 23 0.57 intronic rs6135652 MACROD2 AU NM_001033087 exon12 c.178396-125C>T 0.371206 0.5089 Uncertain 20_16223808_C->T 20 16223808 16223808 C T snp 1864.77 1/1 99 74 0 74 1.0 intergenic rs4814463 MACROD2 AU 0.385583 0.5347 Uncertain 20_16223865_T->C 20 16223865 16223865 T C snp 3670.77 1/1 99 132 0 132 1.0 intergenic rs2144897 MACROD2 AU 0.711661 0.8899 Uncertain 20_16223922_T->C 20 16223922 16223922 T C snp 4576.77 1/1 99 163 1 162 0.99 intergenic rs1541065 MACROD2 AU 0.711262 0.8899 0.559081 0.6176 0.8947 Uncertain 20_16223957_T->C 20 16223957 16223957 T C snp 4440.77 1/1 99 170 0 170 1.0 intergenic rs1000121 MACROD2 AU 0.389177 0.5337 0.262321 0.3450 0.5664 Uncertain 20_16224066_C->T 20 16224066 16224066 C T snp 1770.77 1/1 99 54 0 54 1.0 intergenic rs2144898 MACROD2 AU 0.711262 0.8899 Uncertain 20_16224115_C->A 20 16224115 16224115 C A snp 471.77 1/1 36 13 0 13 1.0 intergenic rs2144899 MACROD2 AU 0.711262 0.8899 Uncertain 20_16337023_G->A 20 16337023 16337023 G A snp 1634.77 0/1 99 119 50 69 0.58 exonic rs368588756 KIF16B AU synonymous SNV NM_001199865 exon22 c.C3420T p.Y1140Y 0.000077 5.769e-05 0 Uncertain 20_16351329_C->T 20 16351329 16351329 C T snp 250.77 0/1 99 32 19 13 0.41 intronic rs2144893 KIF16B AU NM_001199866 exon2 c.3491+48C>T 0.447684 0.3333 0.482682 0.4212 0.3530 Uncertain 20_16359567_A->G 20 16359567 16359567 A G snp 5064.77 1/1 99 187 0 187 1.0 exonic rs6034464 KIF16B AU nonsynonymous SNV NM_001199865 exon19 c.T3080C p.M1027T 0.785144 0.9663 0.680532 0.6802 0.9671 0.72 T 0.001 P -0.976 T 0.005 T 0.014 T Pathogenic 20_16362174_A->- 20 16362174 16362174 A - indel 96.73 0/1 82 15 6 9 0.6 intronic rs11306679 KIF16B AU NM_001199866 exon6 c.14548-164delA 0.527556 0.5417 Uncertain 20_16362265_T->A 20 16362265 16362265 T A snp 1578.77 0/1 99 125 57 68 0.54 intronic rs41276372 KIF16B AU NM_001199866 exon6 c.14548-73T>A 0.166733 0.2837 0.117827 Uncertain 20_16385323_G->A 20 16385323 16385323 G A snp 643.77 0/1 99 57 35 22 0.39 intronic rs3746785 KIF16B AU NM_001199866 exon7 c.37667-134G>A 0.101837 0.2361 Uncertain 20_16407960_A->C 20 16407960 16407960 A C snp 193.77 0/1 99 16 8 8 0.5 intronic rs2273425 KIF16B AU NM_001199866 exon9 c.60096+74A>C 0.577077 0.7718 Uncertain 20_16475112_G->A 20 16475112 16475112 G A snp 30.77 0/1 59 14 10 4 0.29 intronic rs6044027 KIF16B AU NM_001199866 exon12 c.127205+117G>A 0.23143 0.374 Uncertain 20_16486698_G->A 20 16486698 16486698 G A snp 1451.77 0/1 99 115 55 60 0.52 exonic rs2295115 KIF16B AU synonymous SNV NM_001199865 exon8 c.C837T p.L279L 0.240815 0.38 0.238121 0.2717 0.3704 Uncertain 20_16492242_C->T 20 16492242 16492242 C T snp 214.77 0/1 99 16 9 7 0.44 intronic rs6135772 KIF16B AU NM_001199866 exon18 c.144382+70C>T 0.15016 0.3552 Uncertain 20_16493533_T->C 20 16493533 16493533 T C snp 2368.77 0/1 99 193 92 101 0.52 exonic rs6135775 KIF16B AU synonymous SNV NM_001199865 exon5 c.A384G p.G128G 0.241214 0.38 0.238428 0.2721 0.3707 Uncertain 20_16493580_A->G 20 16493580 16493580 A G snp 2401.77 0/1 99 200 96 104 0.52 intronic rs6135776 KIF16B AU NM_001199866 exon19 c.145778+12A>G 0.241214 0.38 0.238044 0.2732 0.3720 Uncertain 20_16496362_T->A 20 16496362 16496362 T A snp 1182.77 0/1 99 86 40 46 0.53 intronic rs6044046 KIF16B AU NM_001199866 exon20 c.148519+53T>A 0.241014 0.38 Uncertain 20_16496415_T->C 20 16496415 16496415 T C snp 362.77 0/1 99 26 14 12 0.46 intronic rs6131837 KIF16B AU NM_001199866 exon20 c.148519+106T>C 0.241014 0.38 Uncertain 20_16506939_C->T 20 16506939 16506939 C T snp 621.77 0/1 99 49 24 25 0.51 intronic rs6034517 KIF16B AU NM_001199866 exon21 c.159060+89C>T 0.237819 0.3611 Uncertain 20_16506971_A->T 20 16506971 16506971 A T snp 239.77 0/1 99 13 5 8 0.62 intronic rs6044072 KIF16B AU NM_001199866 exon21 c.159060+121A>T 0.147364 0.3373 Uncertain 20_16553701_G->C 20 16553701 16553701 G C snp 35.77 0/1 64 9 6 3 0.33 intronic rs6135800 KIF16B AU NM_001199866 exon23 c.206083-172G>C 0.283946 0.3185 Uncertain 20_16554067_A->G 20 16554067 16554067 A G snp 513.77 1/1 39 17 0 17 1.0 UTR5 rs4814510 KIF16B AU 0.819888 0.8006 Uncertain 20_16713144_T->G 20 16713144 16713144 T G snp 49.77 0/1 33 4 1 3 0.75 intronic rs4814548 SNRPB2 AU NM_003092 exon3 c.634+163T>G 0.364217 0.63 Uncertain 20_16729262_C->T 20 16729262 16729262 C T snp 427.77 0/1 99 28 15 13 0.46 intronic rs6080387 OTOR AU NM_020157 exon1 c.115+101C>T 0.36901 0.4048 Uncertain 20_16729654_-->AGATG 20 16729654 16729654 - AGATG indel 6063.73 1/1 99 80 0 80 1.0 splicing rs10627353 OTOR AU NM_020157 exon2 c.605+3insAGATG 0.775559 0.9345 0.673252 0.7265 0.9299 Pathogenic 20_16730464_T->C 20 16730464 16730464 T C snp 1027.77 1/1 75 30 0 30 1.0 intronic rs6075100 OTOR AU NM_020157 exon3 c.1501-83T>C 0.830671 0.997 Uncertain 20_16732004_T->C 20 16732004 16732004 T C snp 112.77 0/1 99 9 4 5 0.56 UTR3 rs12479958 OTOR AU 0.235423 0.5169 Uncertain 20_17389830_T->C 20 17389830 17389830 T C snp 577.77 0/1 99 47 25 22 0.47 intronic rs2217182 PCSK2 AU NM_001201529 exon5 c.181957-77T>C 0.651158 0.5218 Uncertain 20_17436895_G->A 20 17436895 17436895 G A snp 2415.77 1/1 99 71 0 71 1.0 intronic rs2021789 PCSK2 AU NM_001201529 exon9 c.229042-97G>A 0.818291 0.7044 Uncertain 20_17436953_C->T 20 17436953 17436953 C T snp 2662.77 0/1 99 250 138 112 0.45 intronic rs752265913 PCSK2 AU NM_001201529 exon9 c.229042-39C>T 4.196e-05 0 Uncertain 20_17539168_A->G 20 17539168 17539168 A G snp 1202.77 1/1 87 45 2 43 0.96 intergenic rs6044883 BFSP1 AU 0.994409 1 Uncertain 20_17585552_G->A 20 17585552 17585552 G A snp 37.77 0/1 66 6 4 2 0.33 intronic rs2273616 DSTN AU NM_006870 exon3 c.34423+276G>A 0.358626 0.2163 Uncertain 20_17594715_C->- 20 17594715 17594715 C - indel 286.73 0/1 99 13 5 8 0.62 UTR3 rs35586556 RRBP1 AU 0.449681 0.3988 Uncertain 20_17594729_G->A 20 17594729 17594729 G A snp 316.77 0/1 99 25 13 12 0.48 UTR3 rs13734 RRBP1 AU 0.248003 0.5288 Uncertain 20_17595329_G->A 20 17595329 17595329 G A snp 342.77 0/1 99 35 21 14 0.4 intronic rs7261001 RRBP1 AU NM_004587 exon2 c.555-52G>A 0.36881 0.255 Uncertain 20_17596155_C->A 20 17596155 17596155 C A snp 1840.77 0/1 99 174 97 77 0.44 exonic rs1132274 RRBP1 AU nonsynonymous SNV NM_004587 exon23 c.G2672T p.R891L 0.238419 0.5238 0.123097 0.2055 0.5114 0.17 T 0.0 P -0.907 T 0.528 P 0.127 P Pathogenic 20_17596219_C->T 20 17596219 17596219 C T snp 1522.77 0/1 99 157 87 70 0.45 intronic rs12479820 RRBP1 AU NM_004587 exon3 c.1348+45C>T 0.236821 0.5238 0.119095 0.1875 0.4931 Uncertain 20_17596731_C->T 20 17596731 17596731 C T snp 2910.77 0/1 99 239 115 124 0.52 intronic rs2236250 RRBP1 AU NM_004587 exon4 c.1828+77C>T 0.504193 0.4762 Uncertain 20_17596892_C->A 20 17596892 17596892 C A snp 220.84 1/1 18 6 0 6 1.0 intronic rs6044910 RRBP1 AU NM_004587 exon4 c.1828+238C>A 0.984625 1 Uncertain 20_17597331_C->T 20 17597331 17597331 C T snp 819.77 0/1 99 65 33 32 0.49 intronic rs911347 RRBP1 AU NM_004587 exon5 c.2550-45C>T 0.594249 0.4901 0.682895 0.7180 0.5046 Uncertain 20_17597361_A->G 20 17597361 17597361 A G snp 2606.77 1/1 99 87 0 87 1.0 intronic rs911348 RRBP1 AU NM_004587 exon5 c.2550-15A>G 0.987819 1 0.986235 0.9964 1 Uncertain 20_17597531_C->T 20 17597531 17597531 C T snp 2518.77 0/1 99 201 90 111 0.55 intronic rs2236252 RRBP1 AU NM_004587 exon5 c.2658+47C>T 0.238019 0.5069 0.133938 0.2085 0.4945 Uncertain 20_17599214_T->C 20 17599214 17599214 T C snp 2354.77 1/1 99 83 0 83 1.0 intronic rs2328181 RRBP1 AU NM_004587 exon6 c.4414-26T>C 0.986022 0.9931 0.982239 0.9917 0.9985 Uncertain 20_17600144_G->A 20 17600144 17600144 G A snp 39.77 0/1 64 4 2 2 0.5 intronic rs6599 RRBP1 AU NM_004587 exon7 c.5451-133G>A 0.451078 0.3988 Uncertain 20_17600357_G->A 20 17600357 17600357 G A snp 1971.77 0/1 99 192 102 90 0.47 exonic rs11960 RRBP1 AU nonsynonymous SNV NM_004587 exon19 c.C2297T p.S766L 0.397963 0.255 0.531985 0.6135 0.2754 0.23 T 0.0 P -1.032 T 0.086 T 0.014 T Pathogenic 20_17600564_C->A 20 17600564 17600564 C A snp 120.78 0/1 27 6 1 5 0.83 intronic rs1052965 RRBP1 AU NM_004587 exon7 c.5547+191C>A 0.452476 0.3998 Uncertain 20_17602028_T->C 20 17602028 17602028 T C snp 994.77 0/1 99 62 24 38 0.61 intronic rs2236253 RRBP1 AU NM_004587 exon10 c.7276-74T>C 0.454073 0.4226 Uncertain 20_17605016_T->C 20 17605016 17605016 T C snp 334.77 0/1 99 26 14 12 0.46 intronic rs2236254 RRBP1 AU NM_004587 exon13 c.10394-204T>C 0.407947 0.3433 Uncertain 20_17605240_A->T 20 17605240 17605240 A T snp 2299.77 1/1 99 81 0 81 1.0 exonic rs6034867 RRBP1 AU nonsynonymous SNV NM_004587 exon13 c.T1829A p.L610H 1 1 0.999923 0.9999 1 0.16 T 0.0 P -1.060 T 0.0 T 0.002 T Pathogenic 20_17606372_T->C 20 17606372 17606372 T C snp 1689.77 0/1 99 106 37 69 0.65 intronic rs2295672 RRBP1 AU NM_004587 exon14 c.11421+125T>C 0.515974 0.4911 Uncertain 20_17610729_T->C 20 17610729 17610729 T C snp 482.77 1/1 36 17 0 17 1.0 intronic rs6044917 RRBP1 AU NM_004587 exon17 c.15780+123T>C 0.986422 1 Uncertain 20_17617531_T->C 20 17617531 17617531 T C snp 219.84 1/1 18 7 0 7 1.0 intronic rs6044923 RRBP1 AU NM_004587 exon20 c.22548+157T>C 0.992612 1 Uncertain 20_17622429_A->G 20 17622429 17622429 A G snp 131.77 0/1 99 18 12 6 0.33 intronic rs2236255 RRBP1 AU NM_004587 exon21 c.27615-12A>G 0.215256 0.4177 0.115254 0.1987 0.4377 Uncertain 20_17622676_C->T 20 17622676 17622676 C T snp 384.77 0/1 99 26 10 16 0.62 intronic rs41276398 RRBP1 AU NM_004587 exon21 c.27738+112C>T 0.174121 0.1935 Uncertain 20_17639786_T->G 20 17639786 17639786 T G snp 92.77 0/1 99 37 24 13 0.35 intronic rs62207197 RRBP1 AU NM_004587 exon23 c.44508+452T>G 0.0003 0 0.54 T 1 N -1.007 T Uncertain 20_17639790_C->T 20 17639790 17639790 C T snp 63.77 0/1 92 38 29 9 0.24 intronic rs111560928 RRBP1 AU NM_004587 exon23 c.44508+456C>T 0.0003 0 0.42 T 1 N -1.024 T Uncertain 20_17639807_C->T 20 17639807 17639807 C T snp 99.77 0/1 99 41 33 8 0.2 intronic rs78244614 RRBP1 AU NM_004587 exon23 c.44508+473C>T 0.0069 0.0125 0.12 T 1 N -0.859 T Uncertain 20_17639857_G->T 20 17639857 17639857 G T snp 523.77 0/1 99 58 33 25 0.43 intronic rs77553739 RRBP1 AU NM_004587 exon23 c.44508+523G>T 0.3116 0.375 Uncertain 20_17639893_T->C 20 17639893 17639893 T C snp 384.77 0/1 99 74 42 32 0.43 intronic rs12481263 RRBP1 AU NM_004587 exon23 c.44508+559T>C 0.0152 0.0264 Uncertain 20_17639902_A->G 20 17639902 17639902 A G snp 296.77 0/1 99 74 39 35 0.47 intronic rs12480082 RRBP1 AU NM_004587 exon23 c.44508+568A>G 0.0096 0.0145 Uncertain 20_17640009_A->C 20 17640009 17640009 A C snp 1834.77 1/1 99 69 0 69 1.0 intronic rs13040917 RRBP1 AU NM_004587 exon24 c.45798-615A>C 1 1 1 1 0.97 T 0.0 P -0.966 T Uncertain 20_17641216_C->A 20 17641216 17641216 C A snp 577.77 0/1 99 46 25 21 0.46 intronic rs3748499 RRBP1 AU NM_004587 exon24 c.46347+43C>A 0.0249601 0.1171 Uncertain 20_17674451_G->C 20 17674451 17674451 G C snp 334.78 1/1 27 9 0 9 1.0 intronic rs6080781 BANF2 AU NM_001159495 exon1 c.18+100G>C 0.848642 0.9385 Uncertain 20_17705677_A->G 20 17705677 17705677 A G snp 1881.77 1/1 99 61 0 61 1.0 exonic rs4814640 BANF2 AU nonsynonymous SNV NM_001014977 exon2 c.A7G p.N3D 0.943291 0.9911 0.935414 0.9612 0.9860 0.39 T 0.0 P -1.031 T 0.0 T 0.001 T Pathogenic 20_17922911_A->C 20 17922911 17922911 A C snp 395.77 0/1 99 20 8 12 0.6 UTR3 rs142219759 SNX5 AU 0.00379393 0.0188 Uncertain 20_17932210_C->T 20 17932210 17932210 C T snp 354.78 1/1 27 12 0 12 1.0 exonic rs2273448 SNX5 AU synonymous SNV NM_014426 exon6 c.G543A p.E181E 0.297125 0.4375 0.246809 0.3118 0.4462 Uncertain 20_17932415_T->C 20 17932415 17932415 T C snp 208.84 1/1 18 8 0 8 1.0 intronic rs2273449 SNX5 AU NM_014426 exon8 c.9239+176T>C 0.298323 0.4395 Uncertain 20_17933511_C->A 20 17933511 17933511 C A snp 965.77 1/1 72 24 0 24 1.0 intronic rs910900 SNX5 AU NM_014426 exon9 c.10354+157C>A 0.609026 0.6587 Uncertain 20_17937801_T->C 20 17937801 17937801 T C snp 704.77 1/1 51 26 0 26 1.0 intronic rs3790301 SNX5 AU NM_014426 exon12 c.14681+120T>C 0.616214 0.6587 Uncertain 20_17943492_A->T 20 17943492 17943492 A T snp 1939.77 1/1 99 65 1 64 0.98 ncRNA_exonic SNORD17 AU 0.285543 0.4375 0.239449 0.3123 0.4487 Uncertain 20_17948894_G->A 20 17948894 17948894 G A snp 94.28 1/1 9 3 0 3 1.0 intronic rs6111762 SNX5 AU NM_014426 exon13 c.26017-123G>A 0.285743 0.4385 0.4024 0.6053 Uncertain 20_17968923_T->C 20 17968923 17968923 T C snp 4848.77 1/1 99 183 1 182 0.99 exonic rs28455091 MGME1 AR synonymous SNV NM_052865 exon4 c.T846C p.D282D 0.311901 0.4345 0.265493 0.3144 0.4421 Uncertain 20_18005600_A->C 20 18005600 18005600 A C snp 3945.77 1/1 99 144 0 144 1.0 splicing rs2281543 OVOL2 AD NM_001303461 exon1 c.317+4A>C 0.689297 0.7867 0.627557 0.6553 0.7660 Pathogenic 20_18022077_A->G 20 18022077 18022077 A G snp 1930.77 0/1 99 157 82 75 0.48 intronic rs6136266 OVOL2 AD NM_001303461 exon2 c.16898-100A>G 0.301118 0.2123 Uncertain 20_18022171_C->T 20 18022171 18022171 C T snp 2817.77 0/1 99 248 143 105 0.42 intronic rs1571431 OVOL2 AD NM_001303461 exon2 c.16898-6C>T 0.558307 0.4077 0.600877 0.5196 0.4064 Uncertain 20_18022399_G->A 20 18022399 18022399 G A snp 296.77 0/1 99 18 7 11 0.61 intronic rs6111804 OVOL2 AD NM_001303461 exon2 c.17088+32G>A 0.163139 0.1438 0.149700 0.0939 0.1468 Uncertain 20_18118740_T->G 20 18118740 18118740 T G snp 3156.77 1/1 99 123 1 122 0.99 intronic rs1205190 PET117 AU NM_001164811 exon1 c.96+45T>G 0.990216 1 0.9847 1 Uncertain 20_18123085_T->- 20 18123085 18123085 T - indel 638.73 1/1 63 27 0 27 1.0 UTR5;UTR3 rs78016265 CSRP2BP;PET117 UN Uncertain 20_18142564_A->G 20 18142564 18142564 A G snp 2103.77 0/1 99 155 64 91 0.59 exonic rs3828013 CSRP2BP AU synonymous SNV NM_020536 exon5 c.A783G p.K261K 0.117812 0.1349 0.106412 0.1252 0.1404 Uncertain 20_18143117_T->G 20 18143117 18143117 T G snp 3610.77 1/1 99 124 0 124 1.0 exonic rs1205193 CSRP2BP AU nonsynonymous SNV NM_020536 exon6 c.T1199G p.V400G 0.990615 1 0.980624 0.9835 1 0.55 T 0.198 P -0.957 T 0.0 T 0.0 T Pathogenic 20_18143355_C->T 20 18143355 18143355 C T snp 2403.77 0/1 99 159 67 92 0.58 exonic rs1205194 CSRP2BP AU synonymous SNV NM_020536 exon6 c.C1437T p.P479P 0.28774 0.498 0.197986 0.2879 0.4971 Uncertain 20_18165165_A->G 20 18165165 18165165 A G snp 569.77 0/1 99 40 20 20 0.5 intronic CSRP2BP AU NM_020536 exon9 c.41941-80A>G Uncertain 20_18167977_T->C 20 18167977 18167977 T C snp 3078.77 1/1 99 109 0 109 1.0 exonic rs2747404 CSRP2BP AU synonymous SNV NM_020536 exon10 c.T2223C p.P741P 0.991014 1 0.984238 0.9859 1 Uncertain 20_18291106_G->A 20 18291106 18291106 G A snp 99.28 1/1 9 3 0 3 1.0 intronic rs4813310 ZNF133 AU NM_001283004 exon4 c.28+156G>A 0.994808 1 Uncertain 20_18296072_T->A 20 18296072 18296072 T A snp 5056.77 1/1 99 178 0 178 1.0 exonic rs1033545 ZNF133 AU nonsynonymous SNV NM_001083330 exon4 c.T574A p.S192T 0.994808 1 0.995464 0.9948 1 0.18 T 0.0 P -1.029 T 0.0 T 0.001 T Pathogenic 20_18361603_T->C 20 18361603 18361603 T C snp 4187.77 1/1 99 150 0 150 1.0 ncRNA_exonic rs1883938 LINC00851 AU 0.796326 0.874 0.8419 0.8806 Uncertain 20_18370631_T->C 20 18370631 18370631 T C snp 72.77 0/1 99 7 4 3 0.43 intronic rs1033544 DZANK1 AU NM_001099407 exon3 c.5430+159T>C 0.782947 0.4454 Uncertain 20_18393275_C->T 20 18393275 18393275 C T snp 186.77 0/1 99 15 9 6 0.4 intronic rs59695827 DZANK1 AU NM_001099407 exon9 c.28247-14C>T 0.289936 0.122 0.380447 0.3768 0.1167 Uncertain 20_18393312_C->G 20 18393312 18393312 C G snp 444.77 0/1 99 36 20 16 0.44 exonic rs6075337 DZANK1 AU synonymous SNV NM_001099407 exon13 c.G1410C p.L470L 0.629593 0.3095 0.744024 0.7135 0.2886 1.000 P Uncertain 20_18393499_C->T 20 18393499 18393499 C T snp 489.77 0/1 99 40 20 20 0.5 intronic rs6075338 DZANK1 AU NM_001099407 exon9 c.28437+20C>T 0.629593 0.3095 0.742584 0.7147 0.2905 1.000 P Uncertain 20_18414356_A->G 20 18414356 18414356 A G snp 1875.77 0/1 99 151 70 81 0.54 exonic rs6035042 DZANK1 AU synonymous SNV NM_001099407 exon9 c.T801C p.C267C 0.831669 0.8452 0.837991 0.8636 0.8342 1.000 P -1.022 T Likely benign 20_18424102_G->A 20 18424102 18424102 G A snp 481.77 0/1 99 46 25 21 0.46 exonic rs147395910 DZANK1 AU synonymous SNV NM_001099407 exon8 c.C636T p.A212A 0.000399361 0.002 0.0002 0.0040 1 D -0.985 T Likely benign 20_18432690_T->A 20 18432690 18432690 T A snp 589.77 0/1 99 41 21 20 0.49 intronic rs2424196 DZANK1 AU NM_001099407 exon16 c.68216-568T>A 0.522764 0.6002 Uncertain 20_18445963_A->G 20 18445963 18445963 A G snp 1219.77 0/1 99 119 64 55 0.46 exonic rs6035051 DZANK1 AU synonymous SNV NM_001099407 exon2 c.T40C p.L14L 0.577676 0.6101 0.577861 0.5822 0.6181 Uncertain 20_18446024_C->A 20 18446024 18446024 C A snp 548.77 0/1 99 45 25 20 0.44 splicing rs6111974 DZANK1 AU NM_001099407 exon20 c.80979+3C>A 0.638578 0.7083 0.402506 0.4200 0.3789 Pathogenic 20_18446050_-->TGTGCACTTATAGC 20 18446050 18446050 - TGTGCACTTATAGC indel 3349.73 1/1 81 27 0 27 1.0 intronic rs111987137 DZANK1 AU NM_001099407 exon20 c.80979+29insTGTGCACTTATAGC 0.533347 0.5645 0.9788 1 Uncertain 20_18448079_C->A 20 18448079 18448079 C A snp 2933.77 1/1 99 102 0 102 1.0 UTR5 rs1474974 POLR3F AU 0.89357 0.9901 Uncertain 20_18460614_A->T 20 18460614 18460614 A T snp 864.77 0/1 99 85 50 35 0.41 intronic rs6035056 POLR3F AU NM_001282526 exon6 c.11033-67A>T 0.819688 0.8145 Uncertain 20_18462421_A->G 20 18462421 18462421 A G snp 1940.77 0/1 99 136 59 77 0.57 exonic rs1055171 POLR3F AU synonymous SNV NM_001282526 exon8 c.A717G p.T239T 0.819688 0.8145 0.829694 0.8459 0.8056 Uncertain 20_18462492_A->G 20 18462492 18462492 A G snp 504.77 0/1 99 31 15 16 0.52 intronic rs4813332 POLR3F AU NM_001282526 exon8 c.12806+38A>G 0.819688 0.8145 0.829540 0.8450 0.8047 Uncertain 20_18462518_C->G 20 18462518 18462518 C G snp 114.77 0/1 99 8 4 4 0.5 intronic rs6111983 POLR3F AU NM_001282526 exon8 c.12806+64C>G 0.819688 0.8145 Uncertain 20_18464110_T->C 20 18464110 18464110 T C snp 83.77 0/1 70 6 3 3 0.5 intronic rs3827965 POLR3F AU NM_001282526 exon9 c.14476-14T>C 0.819489 0.8155 0.830155 0.8516 0.8128 Uncertain 20_18470664_A->G 20 18470664 18470664 A G snp 465.77 0/1 99 47 28 19 0.4 intronic rs3748450 RBBP9 AU NM_006606 exon1 c.227+30A>G 0.824081 0.8244 0.828848 0.8546 0.8218 Uncertain 20_18470980_A->G 20 18470980 18470980 A G snp 6932.77 1/1 99 249 0 249 1.0 intronic rs2424217 RBBP9 AU NM_006606 exon2 c.631-58A>G 0.99361 1 Uncertain 20_18477614_A->G 20 18477614 18477614 A G snp 2689.77 1/1 99 97 0 97 1.0 intronic rs2247746 RBBP9 AU NM_006606 exon5 c.7305-98A>G 0.744808 0.7331 Uncertain 20_18477870_T->A 20 18477870 18477870 T A snp 2859.77 1/1 99 91 0 91 1.0 UTR5 rs2247757 RBBP9 AU 0.772963 0.7659 Uncertain 20_18496123_G->T 20 18496123 18496123 G T snp 136.03 1/1 12 4 0 4 1.0 intronic rs6045443 SEC23B AR,AD NM_032986 exon4 c.4814-170G>T 0.916733 0.999 Uncertain 20_18505403_G->C 20 18505403 18505403 G C snp 360.77 0/1 99 17 5 12 0.71 intronic rs3762200 SEC23B AR,AD NM_032986 exon5 c.13834+90G>C 0.617212 0.5754 Uncertain 20_18506616_T->C 20 18506616 18506616 T C snp 1370.77 1/1 99 45 0 45 1.0 intronic rs911115 SEC23B AR,AD NM_032986 exon7 c.15097+40T>C 0.900359 0.9891 0.907812 0.9672 0.9903 Uncertain 20_18506617_G->A 20 18506617 18506617 G A snp 503.77 0/1 99 44 25 19 0.43 intronic rs1555353 SEC23B AR,AD NM_032986 exon7 c.15097+41G>A 0.253195 0.1409 0.100031 0.3071 0.1324 Uncertain 20_18511456_A->G 20 18511456 18511456 A G snp 1005.77 1/1 75 36 0 36 1.0 intronic rs6081189 SEC23B AR,AD NM_032986 exon10 c.19968+9A>G 0.916334 1 0.916487 0.9747 0.9999 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000081398.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 20_18511504_T->C 20 18511504 18511504 T C snp 122.77 0/1 54 6 2 4 0.67 intronic rs3762201 SEC23B AR,AD NM_032986 exon10 c.19968+57T>C 0.617212 0.5764 Uncertain 20_18516086_T->C 20 18516086 18516086 T C snp 561.77 1/1 42 16 0 16 1.0 intronic rs6081192 SEC23B AR,AD NM_032986 exon12 c.24817-210T>C 0.916334 1 Uncertain 20_18523002_C->G 20 18523002 18523002 C G snp 1884.77 0/1 99 137 57 80 0.58 exonic rs2273526 SEC23B AR,AD nonsynonymous SNV NM_006363 exon13 c.C1467G p.H489Q 0.115415 0.1597 0.118638 0.1244 0.1712 0.01 T 1.000 P -0.878 T 0.774 T 0.566 P CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000081401.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 20_18523864_C->T 20 18523864 18523864 C T snp 31.77 0/1 60 8 6 2 0.25 intronic rs2295557 SEC23B AR,AD NM_032986 exon14 c.32337+48C>T 0.608427 0.5754 0.683608 0.7077 0.5543 Uncertain 20_18535982_A->G 20 18535982 18535982 A G snp 593.77 1/1 45 19 0 19 1.0 intronic rs1555363 SEC23B AR,AD NM_032986 exon19 c.44338+165A>G 0.916334 1 Uncertain 20_18548056_A->G 20 18548056 18548056 A G snp 1031.77 0/1 99 60 26 34 0.57 upstream rs12624935 LINC00493 AU 0.115615 0.1597 Uncertain 20_18548294_C->- 20 18548294 18548294 C - indel 3258.73 0/1 99 220 105 115 0.52 ncRNA_intronic rs11475009 LINC00493 AU 0.252396 0.1399 Uncertain 20_18548321_T->- 20 18548321 18548321 T - indel 2849.73 0/1 99 162 84 78 0.48 ncRNA_intronic rs35930853 LINC00493 AU 0.1248 0.1597 Uncertain 20_18548411_T->G 20 18548411 18548411 T G snp 329.77 0/1 99 33 22 11 0.33 ncRNA_intronic rs6035077 LINC00493 AU 0.282947 0.4038 Uncertain 20_18548444_T->A 20 18548444 18548444 T A snp 132.77 0/1 99 18 13 5 0.28 ncRNA_intronic rs6035078 LINC00493 AU 0.282548 0.4038 Uncertain 20_18574247_G->A 20 18574247 18574247 G A snp 360.77 0/1 99 28 16 12 0.43 intronic rs6136423 DTD1 AU NM_080820 exon2 c.5658-127G>A 0.128794 0.1627 Uncertain 20_18576912_C->G 20 18576912 18576912 C G snp 606.77 1/1 45 20 0 20 1.0 intronic rs1884875 DTD1 AU NM_080820 exon3 c.8169+27C>G 0.999201 1 0.998308 0.9997 1 Uncertain 20_18608945_G->C 20 18608945 18608945 G C snp 593.77 1/1 45 16 0 16 1.0 intronic rs3818220 DTD1 AU NM_080820 exon4 c.40161+68G>C 0.44389 0.3145 Uncertain 20_19193682_C->T 20 19193682 19193682 C T snp 977.77 1/1 72 45 0 45 1.0 intronic rs6106031 SLC24A3 AU NM_020689 exon1 c.142+54C>T 0.494409 0.8433 Uncertain 20_19560556_A->- 20 19560556 19560556 A - indel 5503.73 1/1 99 125 0 125 1.0 intronic rs11087288 SLC24A3 AU NM_020689 exon4 c.367157-87delA 0.778155 0.8026 Uncertain 20_19560664_G->A 20 19560664 19560664 G A snp 4718.77 1/1 99 170 0 170 1.0 exonic rs3790261 SLC24A3 AU synonymous SNV NM_020689 exon4 c.G369A p.A123A 0.652756 0.6567 0.678610 0.7292 0.6564 Uncertain 20_19634732_G->A 20 19634732 19634732 G A snp 344.77 0/1 99 75 53 22 0.29 exonic rs3790278 SLC24A3 AU synonymous SNV NM_020689 exon7 c.G639A p.L213L 0.556709 0.2669 0.666231 0.5844 0.2534 Uncertain 20_19634747_T->C 20 19634747 19634747 T C snp 289.77 0/1 99 71 51 20 0.28 exonic rs3790279 SLC24A3 AU synonymous SNV NM_020689 exon7 c.T654C p.I218I 0.54992 0.2669 0.658927 0.5824 0.2539 Uncertain 20_19646437_GTGTGT->- 20 19646437 19646442 GTGTGT - indel 599.73 0/1 40 14 4 10 0.71 intronic SLC24A3 AU NM_020689 exon8 c.453021-70_453021-65delGTGTGT Uncertain 20_19654454_A->G 20 19654454 19654454 A G snp 1369.77 1/1 99 52 0 52 1.0 intronic rs1406971 SLC24A3 AU NM_020689 exon9 c.460812+156A>G 0.724441 0.8026 Uncertain 20_19677616_AGGGAGGGAGGG->- 20 19677616 19677627 AGGGAGGGAGGG - indel 1522.73 1/1 39 28 0 28 1.0 intronic rs113059140 SLC24A3 AU NM_020689 exon14 c.484069+61_484069+72delAGGGAGGGAGGG 0.560503 0.7063 Uncertain 20_19701943_A->C 20 19701943 19701943 A C snp 304.78 1/1 24 8 0 8 1.0 UTR3 rs2277866 SLC24A3 AU 0.882788 0.9663 Uncertain 20_19869985_T->C 20 19869985 19869985 T C snp 727.77 1/1 54 21 0 21 1.0 upstream rs2208448 RIN2 AR 0.505391 0.4742 Uncertain 20_19941538_A->T 20 19941538 19941538 A T snp 840.77 1/1 63 25 0 25 1.0 intronic rs199562 RIN2 AR NM_018993 exon4 c.71210+83A>T 0.340056 0.5149 Uncertain 20_19945493_T->C 20 19945493 19945493 T C snp 256.8 1/1 21 7 0 7 1.0 intronic rs6046489 RIN2 AR NM_018993 exon5 c.75350-102T>C 0.211262 0.5367 Uncertain 20_19970705_C->T 20 19970705 19970705 C T snp 4504.77 1/1 99 168 0 168 1.0 exonic rs2076584 RIN2 AR synonymous SNV NM_018993 exon8 c.C1818T p.H606H 0.413938 0.6806 0.325236 0.4076 0.7271 Uncertain 20_19998852_T->- 20 19998852 19998852 T - indel 102.87 1/1 15 12 0 12 1.0 intronic rs11478281 NAA20 AU NM_181527 exon1 c.17+167delT 0.678315 0.8393 Uncertain 20_20006368_T->C 20 20006368 20006368 T C snp 874.77 0/1 99 89 44 45 0.51 exonic rs7263 NAA20 AU synonymous SNV NM_016100 exon3 c.T126C p.Y42Y 0.096845 0.131 0.064816 0.0778 0.1108 Uncertain 20_20007325_T->G 20 20007325 20007325 T G snp 256.8 1/1 21 7 0 7 1.0 intronic rs200177 NAA20 AU NM_181528 exon4 c.9387-102T>G 0.759185 0.872 Uncertain 20_20018883_A->- 20 20018883 20018883 A - indel 51.73 0/1 40 8 3 5 0.63 intronic rs11329914 CRNKL1 AU NM_001278628 exon3 c.2154-109delA 0.208067 0.6121 Uncertain 20_20020213_C->T 20 20020213 20020213 C T snp 1290.77 0/1 99 104 59 45 0.43 intronic rs3748489 CRNKL1 AU NM_001278628 exon4 c.3414-39C>T 0.0978435 0.1319 0.064432 0.0802 0.1104 Uncertain 20_20021301_T->C 20 20021301 20021301 T C snp 611.77 0/1 99 50 24 26 0.52 intronic rs3828003 CRNKL1 AU NM_001278628 exon5 c.4491-28T>C 0.397963 0.7192 0.224469 0.2251 0.7314 Uncertain 20_20033137_T->A 20 20033137 20033137 T A snp 7751.77 1/1 99 250 0 250 1.0 exonic rs2255258 CRNKL1 AU nonsynonymous SNV NM_001278625 exon2 c.A297T p.Q99H 0.700879 0.9375 0.590958 0.6527 0.9403 1 T 0.000 P -0.944 T 0.0 T 0.0 T Pathogenic 20_20033223_A->T 20 20033223 20033223 A T snp 2501.77 0/1 99 188 92 96 0.51 exonic rs2273056 CRNKL1 AU nonsynonymous SNV NM_001278625 exon2 c.T211A p.S71T 0.0726837 0.0992 0.044909 0.0594 0.0908 0.01 T 0.000 P -1.039 T 0.001 T 0.002 T Pathogenic 20_20036897_G->A 20 20036897 20036897 G A snp 172.9 1/1 15 5 0 5 1.0 intronic rs1509574 CFAP61 AU 0.182109 0.2351 Uncertain 20_20037222_T->C 20 20037222 20037222 T C snp 865.77 1/1 63 30 0 30 1.0 intronic rs1509573 CFAP61 AU 0.701478 0.9375 Uncertain 20_20050397_G->A 20 20050397 20050397 G A snp 3264.77 1/1 99 121 0 121 1.0 intronic rs200183 CFAP61 AU NM_001167816 exon2 c.14200-1100G>A 0.784145 0.9712 0.7642 0.985 Uncertain 20_20054759_C->T 20 20054759 20054759 C T snp 52.74 1/1 6 2 0 2 1.0 intronic rs6112745 CFAP61 AU NM_001167816 exon3 c.17648-186C>T 0.775559 0.9117 Uncertain 20_20056038_-->A 20 20056038 20056038 - A indel 1446.73 1/1 99 39 0 39 1.0 intronic rs11482118 CFAP61 AU NM_001167816 exon5 c.18835-94insA 0.815096 0.9127 Uncertain 20_20071634_T->C 20 20071634 20071634 T C snp 2971.77 1/1 99 107 0 107 1.0 intronic rs6046614 CFAP61 AU NM_001167816 exon6 c.34323+14T>C 0.867412 0.9881 0.773643 0.8045 0.9889 Uncertain 20_20123308_A->G 20 20123308 20123308 A G snp 130.77 0/1 99 15 9 6 0.4 intronic rs2249280 CFAP61 AU NM_001167816 exon8 c.86203-192A>G 0.808906 0.4573 Uncertain 20_20123624_G->T 20 20123624 20123624 G T snp 457.77 0/1 99 43 26 17 0.4 intronic rs7265615 CFAP61 AU NM_001167816 exon8 c.86295+32G>T 0.220447 0.1379 0.223445 0.3105 0.1735 Uncertain 20_20139952_C->- 20 20139952 20139952 C - indel 1054.73 0/1 99 75 46 29 0.39 intronic rs11475376 CFAP61 AU NM_001167816 exon9 c.102716-61delC 0.808906 0.4573 0.937141 Uncertain 20_20146851_G->A 20 20146851 20146851 G A snp 83.77 0/1 67 5 2 3 0.6 intronic rs6046678 CFAP61 AU NM_001167816 exon11 c.109743-189G>A 0.805312 0.4554 Uncertain 20_20146875_C->T 20 20146875 20146875 C T snp 263.77 0/1 54 13 3 10 0.77 intronic rs6046679 CFAP61 AU NM_001167816 exon11 c.109743-165C>T 0.805312 0.4563 Uncertain 20_20150182_A->T 20 20150182 20150182 A T snp 236.77 0/1 99 31 21 10 0.32 intronic rs6112802 CFAP61 AU NM_001167816 exon12 c.112807+78A>T 0.805112 0.4554 Uncertain 20_20152462_A->C 20 20152462 20152462 A C snp 2242.77 0/1 99 199 95 104 0.52 UTR3 rs996197 CFAP61 AU 0.727436 0.4315 0.825668 0.8287 0.4359 Uncertain 20_20152581_G->A 20 20152581 20152581 G A snp 917.77 0/1 99 82 46 36 0.44 UTR3 rs2328500 CFAP61 AU 0.805112 0.4554 Uncertain 20_20168497_A->G 20 20168497 20168497 A G snp 173.77 0/1 99 17 11 6 0.35 intronic rs2179825 CFAP61 AU NM_015585 exon14 c.131276-76A>G 0.805911 0.4573 Uncertain 20_20232105_-->T 20 20232105 20232105 - T indel 660.73 0/1 99 36 17 19 0.53 intronic CFAP61 AU NM_015585 exon20 c.194941-133insT Uncertain 20_20350516_T->G 20 20350516 20350516 T G snp 2315.77 1/1 99 70 0 70 1.0 UTR3 rs6137007 INSM1 AU 0.988019 0.999 Uncertain 20_20377167_C->G 20 20377167 20377167 C G snp 71.77 0/1 94 6 3 3 0.5 intronic rs527743024 RALGAPA2 AU 0.000998403 0.005 Uncertain 20_20377421_-->C 20 20377421 20377421 - C indel 8515.73 1/1 99 248 0 248 1.0 intronic rs11426947 RALGAPA2 AU NM_020343 exon2 c.5+43insC 0.818882 0.9060 0.8091 Uncertain 20_20445761_C->T 20 20445761 20445761 C T snp 276.77 0/1 94 12 4 8 0.67 intronic rs76103408 RALGAPA2 AU NM_020343 exon4 c.76099-7711C>T 0.0519169 0.1458 Uncertain 20_20445841_-->CACACTCT 20 20445841 20445841 - CACACTCT indel 2868.73 0/1 99 92 45 47 0.51 intronic RALGAPA2 AU NM_020343 exon4 c.76099-7631insCACACTCT Uncertain 20_20446102_C->T 20 20446102 20446102 C T snp 273.77 0/1 99 45 29 16 0.36 intronic rs73287275 RALGAPA2 AU NM_020343 exon4 c.76099-7370C>T 0.0609026 0.1458 Uncertain 20_20484043_A->G 20 20484043 20484043 A G snp 884.77 0/1 99 82 45 37 0.45 exonic rs2273528 RALGAPA2 AU synonymous SNV NM_020343 exon35 c.T5160C p.H1720H 0.103435 0.1637 0.066976 0.0655 0.1575 1.0 P -0.983 T Likely benign 20_20484184_T->A 20 20484184 20484184 T A snp 587.77 0/1 99 34 12 22 0.65 intronic rs6137049 RALGAPA2 AU NM_020343 exon6 c.106777+34T>A 0.0375399 0.1429 0.005385 0.0262 0.1517 Uncertain 20_20484248_G->A 20 20484248 20484248 G A snp 65.77 0/1 94 10 7 3 0.3 intronic rs6132307 RALGAPA2 AU NM_020343 exon6 c.106777+98G>A 0.0375399 0.1429 Uncertain 20_20504879_A->C 20 20504879 20504879 A C snp 114.77 0/1 99 7 3 4 0.57 intronic rs6132311 RALGAPA2 AU NM_020343 exon11 c.127676-170A>C 0.0503195 0.1429 Uncertain 20_20505658_C->G 20 20505658 20505658 C G snp 2053.77 0/1 99 149 65 84 0.56 intronic rs6075671 RALGAPA2 AU NM_020343 exon12 c.128169+116C>G 0.108427 0.1627 Uncertain 20_20516515_T->C 20 20516515 20516515 T C snp 1129.77 0/1 99 114 60 54 0.47 intronic rs6137056 RALGAPA2 AU NM_020343 exon15 c.139074+68T>C 0.0385383 0.1429 0.005699 Uncertain 20_20553512_A->G 20 20553512 20553512 A G snp 270.77 0/1 99 16 7 9 0.56 intronic rs1210347 RALGAPA2 AU NM_020343 exon20 c.176145-6A>G 0.114816 0.1677 0.083065 0.1133 0.2109 Uncertain 20_20570118_G->A 20 20570118 20570118 G A snp 124.77 0/1 99 16 11 5 0.31 intronic rs57023914 RALGAPA2 AU NM_020343 exon23 c.192636+109G>A 0.0984425 0.1667 Uncertain 20_20572029_A->G 20 20572029 20572029 A G snp 452.77 0/1 99 32 14 18 0.56 intronic rs6132319 RALGAPA2 AU NM_020343 exon24 c.194585+71A>G 0.0375399 0.1429 Uncertain 20_20572096_A->C 20 20572096 20572096 A C snp 38.77 0/1 33 3 1 2 0.67 intronic rs6075681 RALGAPA2 AU NM_020343 exon24 c.194585+138A>C 0.110623 0.1667 Uncertain 20_20579578_T->G 20 20579578 20579578 T G snp 324.9 0/1 15 12 2 10 0.83 intronic rs2273216 RALGAPA2 AU NM_020343 exon25 c.204952-2747T>G 0.0385383 0.1429 Uncertain 20_20599985_C->T 20 20599985 20599985 C T snp 1865.77 0/1 99 184 92 92 0.5 exonic rs6137081 RALGAPA2 AU nonsynonymous SNV NM_020343 exon12 c.G1475A p.S492N 0.0383387 0.1429 0.005907 0.0247 0.1402 0.28 T 0.856 P -1.004 T 0.0 T 0.001 T Pathogenic 20_20609964_-->AC 20 20609964 20609964 - AC indel 2165.73 ./1 99 50 4 46 0.92 intronic rs11471446 RALGAPA2 AU NM_020343 exon31 c.232633-42insAC 0.1292 0.0889 Uncertain 20_20609965_ACACAC->- 20 20609965 20609970 ACACAC - indel 2165.73 ./1 99 50 4 46 0.92 intronic RALGAPA2 AU NM_020343 exon31 c.232633-41_232633-36delACACAC Uncertain 20_20620408_T->C 20 20620408 20620408 T C snp 641.77 0/1 99 61 32 29 0.48 intronic rs6082078 RALGAPA2 AU NM_020343 exon34 c.243055-20T>C 0.076877 0.1667 0.043258 0.0582 0.1592 Uncertain 20_20621592_G->A 20 20621592 20621592 G A snp 312.78 1/1 24 10 0 10 1.0 intronic rs6082079 RALGAPA2 AU NM_020343 exon35 c.244149+70G>A 0.10024 0.1667 Uncertain 20_20634106_T->C 20 20634106 20634106 T C snp 201.77 0/1 99 20 9 11 0.55 intronic rs6132333 RALGAPA2 AU NM_020343 exon37 c.256800-67T>C 0.0764776 0.1667 Uncertain 20_20661666_A->G 20 20661666 20661666 A G snp 50.74 1/1 6 2 0 2 1.0 intronic rs6112974 RALGAPA2 AU NM_020343 exon39 c.284072+221A>G 0.442692 0.6597 Uncertain 20_21106714_-->G 20 21106714 21106714 - G indel 1347.73 0/1 99 109 65 44 0.4 UTR5 rs397791672 KIZ AR 0.524361 0.5565 0.537332 0.6789 0.5680 Uncertain 20_21117241_T->- 20 21117241 21117241 T - indel 127.74 0/1 0 13 1 12 0.92 intronic rs11476720 KIZ AR NM_018474 exon3 c.10437+48delT 0.554113 0.5526 0.5442 0.4785 Uncertain 20_21126194_C->G 20 21126194 21126194 C G snp 508.77 0/1 99 38 14 24 0.63 intronic rs6047271 KIZ AR NM_001163022 exon3 c.13411-11C>G 0.611422 0.5625 0.648611 0.6982 0.5570 Uncertain 20_21142454_-->C 20 21142454 21142454 - C indel 384.73 0/1 99 22 8 14 0.64 intronic rs11482592 KIZ AR NM_001163023 exon3 c.29717-57insC 0.546126 0.5595 Uncertain 20_21142523_C->G 20 21142523 21142523 C G snp 1924.77 0/1 99 144 68 76 0.53 exonic rs4815025 KIZ AR unknown 0.559105 0.5625 0.584635 0.6489 0.5613 Uncertain 20_21142813_T->C 20 21142813 21142813 T C snp 2936.77 0/1 99 248 135 113 0.46 exonic rs2236178 KIZ AR unknown 0.664337 0.5694 0.683505 0.6789 0.5699 Uncertain 20_21143935_G->T 20 21143935 21143935 G T snp 71.77 0/1 99 6 3 3 0.5 intronic rs6047280 KIZ AR NM_001163023 exon4 c.31006+135G>T 0.573882 0.5605 Uncertain 20_21186161_-->G 20 21186161 21186161 - G indel 5032.73 1/1 99 127 0 127 1.0 exonic rs11087346 KIZ AR unknown 0.9998 1 0.999827 0.9997 0.9985 Uncertain 20_21196190_A->T 20 21196190 21196190 A T snp 621.77 0/1 99 56 30 26 0.46 ncRNA_intronic rs6137293 KIZ-AS1 AU 0.096845 0.2331 0.040915 0.0541 0.3407 Uncertain 20_21227314_C->T 20 21227314 21227314 C T snp 548.77 1/1 42 14 0 14 1.0 downstream rs6047326 KIZ AR 0.995008 1 Uncertain 20_21307107_A->G 20 21307107 21307107 A G snp 1291.77 0/1 99 110 62 48 0.44 intronic rs2296728 XRN2 AU NM_012255 exon3 c.23091-20A>G 0.65635 0.7123 0.611948 0.6725 0.7030 Uncertain 20_21313109_-->A 20 21313109 21313109 - A indel 536.73 0/1 99 90 45 45 0.5 intronic rs11481754 XRN2 AU NM_012255 exon9 c.29042+31insA 0.623403 0.6845 0.5754 0.6422 Uncertain 20_21319828_A->G 20 21319828 21319828 A G snp 2071.77 1/1 99 78 0 78 1.0 intronic rs202844 XRN2 AU NM_012255 exon14 c.35690+102A>G 0.974042 0.9633 Uncertain 20_21321294_C->T 20 21321294 21321294 C T snp 186.77 0/1 99 14 7 7 0.5 intronic rs202845 XRN2 AU NM_012255 exon15 c.37322-64C>T 0.916933 0.8532 Uncertain 20_21328716_T->- 20 21328716 21328716 T - indel 601.73 1/1 57 19 0 19 1.0 intronic rs11087351 XRN2 AU NM_012255 exon18 c.44747-67delT 0.998602 1 Uncertain 20_21336825_G->A 20 21336825 21336825 G A snp 1382.77 0/1 99 100 40 60 0.6 intronic rs3787500 XRN2 AU NM_012255 exon22 c.52779+10G>A 0.493211 0.4782 0.522836 0.6183 0.4703 Uncertain 20_21362704_A->- 20 21362704 21362704 A - indel 6426.73 1/1 99 170 0 170 1.0 intronic rs11476840 XRN2 AU NM_012255 exon28 c.78659+9delA 0.924521 0.9851 0.862939 0.8535 0.9861 Uncertain 20_21362758_T->G 20 21362758 21362758 T G snp 2674.77 1/1 99 100 0 100 1.0 intronic rs6047417 XRN2 AU NM_012255 exon28 c.78659+63T>G 0.919928 0.9851 0.840780 Uncertain 20_21687344_G->A 20 21687344 21687344 G A snp 2619.77 0/1 99 248 142 106 0.43 exonic rs17861031 PAX1 AR synonymous SNV NM_006192 exon2 c.G555A p.K185K 0.0712859 0.121 0.055974 0.0331 0.1197 Uncertain 20_22562674_T->C 20 22562674 22562674 T C snp 5611.77 1/1 99 203 0 203 1.0 exonic rs1212275 FOXA2 AU synonymous SNV NM_021784 exon2 c.A1206G p.Q402Q 0.95607 1 0.899739 0.9015 0.9979 Uncertain 20_23016970_T->G 20 23016970 23016970 T G snp 8197.77 1/1 99 250 1 249 1.0 exonic rs3746726 SSTR4 AU nonsynonymous SNV NM_001052 exon1 c.T850G p.F284V 0.305511 0.2351 0.334615 0.3488 0.2445 1 T 0.075 P -0.966 T 0.004 T 0.017 T Pathogenic 20_23017017_T->C 20 23017017 23017017 T C snp 7875.77 1/1 99 250 0 250 1.0 exonic rs2567609 SSTR4 AU synonymous SNV NM_001052 exon1 c.T897C p.L299L 0.482228 0.5258 0.437875 0.4708 0.5458 Uncertain 20_23017044_C->T 20 23017044 23017044 C T snp 7556.77 1/1 99 250 1 249 1.0 exonic rs3746728 SSTR4 AU synonymous SNV NM_001052 exon1 c.C924T p.P308P 0.309105 0.2351 0.337487 0.3494 0.2439 Uncertain 20_23017082_T->C 20 23017082 23017082 T C snp 7623.77 1/1 99 249 0 249 1.0 exonic rs2567608 SSTR4 AU nonsynonymous SNV NM_001052 exon1 c.T962C p.F321S 0.519569 0.5466 0.473603 0.4833 0.5670 1 T 0.0 P -0.914 T 0.0 T 0.0 T Pathogenic 20_23028388_G->A 20 23028388 23028388 G A snp 214.77 0/1 99 22 13 9 0.41 UTR3 rs13306852 THBD AU,AD 0.00139776 0.0069 0.0014 0.0255 Uncertain 20_23028724_G->A 20 23028724 23028724 G A snp 2798.77 0/1 99 239 124 115 0.48 exonic rs1042579 THBD AU,AD nonsynonymous SNV NM_000361 exon1 c.C1418T p.A473V 0.164537 0.3046 0.137881 0.1997 0.2966 0.42 T 0.0 P -1.142 T 0.0 T 0.0 T ID=CM971486;DIS=Thromboembolic disease, association with;TAG=DP;PUB=9157575 DP Pathogenic 20_23030343_C->T 20 23030343 23030343 C T snp 976.77 0/1 99 60 18 42 0.7 upstream rs13306848 THBD AU,AD 0.028155 0.0893 0.0183 0.0931 ID=CR973335;DIS=Myocardial infarction;TAG=DM?;PUB=9236408 DM? Uncertain 20_23064810_C->T 20 23064810 23064810 C T snp 1942.77 1/1 99 66 0 66 1.0 intronic rs11087413 CD93 AU NM_012072 exon2 c.309-85C>T 0.567492 0.7808 Uncertain 20_23065209_G->A 20 23065209 23065209 G A snp 2340.77 0/1 99 199 99 100 0.5 exonic rs3746731 CD93 AU nonsynonymous SNV NM_012072 exon1 c.C1621T p.P541S 0.541134 0.6468 0.499077 0.5635 0.6466 0.42 T 0.0 P -0.903 T 0.192 T 0.086 T Pathogenic 20_23065342_A->G 20 23065342 23065342 A G snp 4819.77 1/1 99 171 0 171 1.0 exonic rs3746732 CD93 AU synonymous SNV NM_012072 exon1 c.T1488C p.R496R 0.779752 0.8036 0.753577 0.7716 0.8298 Uncertain 20_23065548_C->A 20 23065548 23065548 C A snp 1896.77 0/1 99 162 83 79 0.49 exonic rs41347947 CD93 AU nonsynonymous SNV NM_012072 exon1 c.G1282T p.V428L 0.0155751 0.0089 0.015224 0.0075 0.0150 0.31 T 0.951 N -0.563 T 0.137 T 0.066 T Pathogenic 20_23335121_TT->- 20 23335121 23335122 TT - indel 191.73 0/1 99 15 6 9 0.6 UTR3 rs77711910 NXT1 AU 0.124201 0.3115 0.060240 0.1002 0.2983 Uncertain 20_23345844_A->C 20 23345844 23345844 A C snp 2981.77 1/1 99 91 1 90 0.99 exonic rs6048760 GZF1 AU nonsynonymous SNV NM_022482 exon1 c.A824C p.Q275P 0.668331 0.8879 0.566431 0.5327 0.8876 0.35 T 0.0 P -1.074 T 0.0 T 0.0 T Pathogenic 20_23346515_C->G 20 23346515 23346515 C G snp 556.77 0/1 99 43 21 22 0.51 intronic rs6137910 GZF1 AU NM_022482 exon1 c.1364+131C>G 0.126198 0.3175 Uncertain 20_23347553_C->T 20 23347553 23347553 C T snp 265.8 1/1 21 8 0 8 1.0 intronic rs999072 GZF1 AU NM_022482 exon2 c.2619-86C>T 0.52516 0.7153 Uncertain 20_23349608_A->- 20 23349608 23349608 A - indel 795.73 0/1 99 96 39 57 0.59 intronic rs3833333 GZF1 AU NM_022482 exon3 c.4546+42delA 0.307508 0.3145 0.328825 0.4091 0.4295 Uncertain 20_23350525_C->T 20 23350525 23350525 C T snp 304.77 0/1 99 29 19 10 0.34 intronic rs17830281 GZF1 AU NM_022482 exon4 c.5358+147C>T 0.125998 0.3175 Uncertain 20_23358233_C->T 20 23358233 23358233 C T snp 591.77 0/1 99 28 10 18 0.64 intronic rs6083099 NAPB AU NM_022080 exon1 c.111+110C>T 0.291933 0.3125 Uncertain 20_23360171_G->C 20 23360171 23360171 G C snp 340.77 0/1 99 35 18 17 0.49 intronic rs2224074 NAPB AU NM_022080 exon2 c.2120+39G>C 0.236222 0.3135 0.238806 0.2949 0.3355 Uncertain 20_23360369_G->A 20 23360369 23360369 G A snp 551.77 0/1 99 44 21 23 0.52 intronic rs6137917 NAPB AU NM_022080 exon3 c.2491-134G>A 0.126797 0.3194 Uncertain 20_23375907_C->T 20 23375907 23375907 C T snp 700.77 1/1 54 18 0 18 1.0 intronic rs2424533 NAPB AU NM_022080 exon8 c.17810+85C>T 0.418131 0.631 Uncertain 20_23377642_C->T 20 23377642 23377642 C T snp 479.77 0/1 99 62 42 20 0.32 intronic rs3736755 NAPB AU NM_022080 exon9 c.19696-66C>T 0.126198 0.3175 Uncertain 20_23401905_CCCC->- 20 23401905 23401908 CCCC - indel 5110.73 ./1 99 129 1 128 0.99 intronic rs200080949 NAPB AU NM_022080 exon11 c.43929-36_43929-33delCCCC 0.300919 0.3254 0.3143 0.3488 Uncertain 20_23401905_C->- 20 23401905 23401905 C - indel 5110.73 ./1 99 129 1 128 0.99 intronic rs540492138 NAPB AU NM_022080 exon11 c.43929-36delC 0.161142 0.2609 0.1196 0.2148 Uncertain 20_23421101_G->A 20 23421101 23421101 G A snp 3204.83 0/1 99 245 115 130 0.53 exonic rs17757442 CSTL1 AU nonsynonymous SNV NM_138283 exon2 c.G197A p.R66K 0.121605 0.2996 0.061741 0.0974 0.2979 0.78 T 0.0 P -0.948 T 0.0 T 0.0 T Pathogenic 20_23424613_T->C 20 23424613 23424613 T C snp 2989.77 1/1 99 107 0 107 1.0 exonic rs3746736 CSTL1 AU nonsynonymous SNV NM_138283 exon3 c.T262C p.W88R 0.654952 0.7292 0.599646 0.5463 0.7279 1 T 0.000 P -1.028 T 0.0 T 0.0 T Pathogenic 20_23424638_C->T 20 23424638 23424638 C T snp 1639.77 0/1 99 131 60 71 0.54 exonic rs3746737 CSTL1 AU nonsynonymous SNV NM_138283 exon3 c.C287T p.T96M 0.127396 0.2996 0.067969 0.0990 0.2960 0.1 T 0.0 P -1.052 T 0.786 T 0.259 P Pathogenic 20_23424886_T->C 20 23424886 23424886 T C snp 174.9 1/1 15 5 0 5 1.0 intronic rs6083127 CSTL1 AU NM_138283 exon3 c.3777+205T>C 0.692093 0.8264 Uncertain 20_23432528_A->G 20 23432528 23432528 A G snp 2047.77 0/1 99 144 60 84 0.58 exonic rs2236021 CST11 AU synonymous SNV NM_130794 exon2 c.T258C p.N86N 0.276358 0.3006 0.208827 0.1329 0.3063 Uncertain 20_23472391_A->G 20 23472391 23472391 A G snp 3090.77 1/1 99 114 0 114 1.0 exonic rs2983288 CST8 AU synonymous SNV NM_001281730 exon2 c.A87G p.T29T 0.991014 1 0.978395 0.9806 1 Uncertain 20_23473535_G->T 20 23473535 23473535 G T snp 86.77 0/1 99 22 16 6 0.27 intronic CST8 AU NM_005492 exon3 c.1290-59G>T Uncertain 20_23528536_T->C 20 23528536 23528536 T C snp 2020.77 1/1 99 67 0 67 1.0 intergenic rs6076084 CST13P AU 0.392173 0.5417 0.4401 0.5958 Uncertain 20_23528662_G->A 20 23528662 23528662 G A snp 348.78 1/1 27 11 0 11 1.0 intergenic rs6083145 CST13P AU 0.355831 0.5417 Uncertain 20_23529319_G->A 20 23529319 23529319 G A snp 249.8 1/1 21 8 0 8 1.0 intergenic rs6083146 CST13P AU 0.353435 0.5417 Uncertain 20_23529377_G->A 20 23529377 23529377 G A snp 1013.77 1/1 75 32 0 32 1.0 intergenic rs3004129 CST13P AU 0.967851 1 Uncertain 20_23529418_G->C 20 23529418 23529418 G C snp 1829.77 1/1 99 60 0 60 1.0 intergenic rs6083147 CST13P AU 0.35643 0.5417 0.3985 0.5696 Uncertain 20_23530941_A->G 20 23530941 23530941 A G snp 421.77 1/1 33 11 0 11 1.0 intergenic rs1028560 CST13P AU 0.355431 0.5407 Uncertain 20_23531276_G->A 20 23531276 23531276 G A snp 1624.77 1/1 99 56 0 56 1.0 intergenic rs1028561 CST13P AU 0.363219 0.5407 0.4715 0.5920 1 T 0.0 P -0.929 T Uncertain 20_23546639_T->G 20 23546639 23546639 T G snp 3089.77 1/1 99 106 0 106 1.0 exonic rs2295564 CST9L AU nonsynonymous SNV NM_080610 exon2 c.A326C p.H109P 0.375799 0.5417 0.346609 0.3991 0.5666 1 T 0.0 P -0.928 T 0.0 T 0.0 T Pathogenic 20_23546871_T->C 20 23546871 23546871 T C snp 1833.77 1/1 99 56 0 56 1.0 intronic rs2208284 CST9L AU NM_080610 exon2 c.1140+147T>C 0.375799 0.5417 Uncertain 20_23548774_T->C 20 23548774 23548774 T C snp 1390.77 1/1 99 42 0 42 1.0 intronic rs2983617 CST9L AU NM_080610 exon3 c.3263-73T>C 0.967851 1 Uncertain 20_23549166_C->A 20 23549166 23549166 C A snp 1023.77 1/1 75 28 0 28 1.0 UTR5 rs6083172 CST9L AU 0.365415 0.5417 Uncertain 20_23584116_G->A 20 23584116 23584116 G A snp 2910.77 1/1 99 95 2 93 0.98 UTR3 rs726217 CST9 AU 0.466454 0.6815 0.464401 0.5855 0.6973 Uncertain 20_23586184_T->C 20 23586184 23586184 T C snp 1224.77 1/1 87 42 0 42 1.0 intronic rs2983639 CST9 AU NM_001008693 exon2 c.2100-62T>C 0.715256 0.7986 Uncertain 20_23586360_G->A 20 23586360 23586360 G A snp 3950.77 1/1 99 141 0 141 1.0 exonic rs2983640 CST9 AU nonsynonymous SNV NM_001008693 exon1 c.C142T p.L48F 0.455072 0.6796 0.455943 0.5662 0.6839 0.72 T 0.0 P -0.903 T 0.989 D 0.87 D Pathogenic 20_23615820_CACA->- 20 23615820 23615823 CACA - indel 1836.73 0/1 99 86 48 38 0.44 intronic CST3 AU,AD NM_000099 exon2 c.1338-70_1338-67delCACA Uncertain 20_23618395_T->C 20 23618395 23618395 T C snp 1313.77 1/1 93 48 0 48 1.0 exonic rs6138024 CST3 AU,AD synonymous SNV NM_000099 exon1 c.A105G p.L35L 0.951078 1 0.949245 0.9793 1 Uncertain 20_23669649_G->A 20 23669649 23669649 G A snp 787.77 0/1 99 66 35 31 0.47 UTR5 rs182891798 CST4 AU 0.000399361 0.002 0.0001 0.0014 Uncertain 20_23729722_G->T 20 23729722 23729722 G T snp 7558.77 1/1 99 250 0 250 1.0 exonic rs3188314 CST1 AU synonymous SNV NM_001898 exon2 c.C273A p.R91R 0.9924 0.9939 Uncertain 20_23731494_A->G 20 23731494 23731494 A G snp 4715.77 1/1 99 159 0 159 1.0 exonic rs6076122 CST1 AU nonsynonymous SNV NM_001898 exon1 c.T10C p.Y4H 0.829673 0.9048 0.773608 0.7393 0.9049 0.55 T 0.0 P -1.052 T 0.004 T 0.0 T Pathogenic 20_23731560_C->T 20 23731560 23731560 C T snp 1453.77 1/1 99 40 0 40 1.0 UTR5 rs6076123 CST1 AU 0.828474 0.8968 Uncertain 20_23731589_G->C 20 23731589 23731589 G C snp 683.77 1/1 51 19 0 19 1.0 upstream rs113896553 CST1 AU 0.385383 0.6726 Uncertain 20_23804557_GGGGAGACCTCCCACAGGGTG->- 20 23804557 23804577 GGGGAGACCTCCCACAGGGTG - indel 3910.73 0/1 99 35 18 17 0.49 UTR3 rs146315351 CST2 AU 0.0704872 0.1141 Uncertain 20_23804663_T->A 20 23804663 23804663 T A snp 1299.77 0/1 99 125 65 60 0.48 exonic rs76198093 CST2 AU nonsynonymous SNV NM_001322 exon3 c.A420T p.E140D 0.0615016 0.1141 0.027218 0.0495 0.1044 1 T 0.0 P -0.971 T 0.001 T 0.002 T Pathogenic 20_23805832_G->A 20 23805832 23805832 G A snp 3598.77 1/1 99 109 0 109 1.0 intronic rs6036548 CST2 AU NM_001322 exon2 c.1190-14G>A 0.830072 0.9375 0.7639 0.9263 Uncertain 20_23805953_C->T 20 23805953 23805953 C T snp 2496.77 0/1 99 246 140 106 0.43 exonic rs45539436 CST2 AU nonsynonymous SNV NM_001322 exon2 c.G236A p.G79D 0.0734824 0.1171 0.041981 0.0617 0.1049 0.41 T 0.0 P -1.004 T 0.0 T 0.002 T Pathogenic 20_23806929_A->C 20 23806929 23806929 A C snp 3056.77 1/1 99 98 1 97 0.99 intronic rs58314206 CST2 AU NM_001322 exon3 c.2413-140A>C 0.48762 0.4425 Uncertain 20_23807028_A->C 20 23807028 23807028 A C snp 6982.77 1/1 99 250 1 249 1.0 intronic rs4407312 CST2 AU NM_001322 exon3 c.2413-41A>C 0.81849 0.9375 0.780640 0.7643 0.9265 Uncertain 20_24524218_C->G 20 24524218 24524218 C G snp 1473.77 1/1 99 44 0 44 1.0 splicing rs4815274 SYNDIG1 AU NM_024893 exon2 c.480+5C>G 1 1 1 1 Pathogenic 20_24524245_A->G 20 24524245 24524245 A G snp 800.77 1/1 60 24 0 24 1.0 intronic rs4813519 SYNDIG1 AU NM_024893 exon2 c.480+32A>G 1 1 1 1 Uncertain 20_24565455_T->G 20 24565455 24565455 T G snp 565.77 0/1 99 78 53 25 0.32 intronic rs73612612 SYNDIG1 AU NM_024893 exon3 c.41758-36T>G 0.0119808 0.0565 0.000154 0.0065 0.0739 Uncertain 20_24645939_G->A 20 24645939 24645939 G A snp 4041.77 1/1 99 161 0 161 1.0 intronic rs2892217 SYNDIG1 AU NM_024893 exon4 c.122248-42G>A 0.665935 0.8671 0.570275 0.4889 0.8725 Uncertain 20_24646168_C->T 20 24646168 24646168 C T snp 765.77 0/1 99 63 32 31 0.49 UTR3 rs11553411 SYNDIG1 AU 0.0169728 0.0813 0.000077 0.0066 0.0890 Uncertain 20_24930085_G->A 20 24930085 24930085 G A snp 659.77 0/1 99 54 25 29 0.54 UTR5 rs227653 CST7 AU 0.0842652 0.0605 0.118271 0.0991 0.0800 0 D 0.0 P -1.032 T Uncertain 20_24939590_G->C 20 24939590 24939590 G C snp 502.77 0/1 99 80 58 22 0.28 exonic rs1056033 CST7 AU synonymous SNV NM_003650 exon3 c.G270C p.L90L 0.591653 0.9325 0.442257 0.5609 0.9144 Uncertain 20_24939764_C->T 20 24939764 24939764 C T snp 379.77 0/1 99 17 6 11 0.65 intronic rs45556041 CST7 AU NM_003650 exon3 c.9539+84C>T 0.0722843 0.0605 Uncertain 20_24944933_T->C 20 24944933 24944933 T C snp 690.77 1/1 51 21 0 21 1.0 intronic rs761368 APMAP AU NM_020531 exon1 c.210+275T>C 0.801917 0.996 Uncertain 20_24945080_GGC->- 20 24945080 24945082 GGC - indel 3789.73 0/1 99 121 56 65 0.54 intronic rs10534910 APMAP AU NM_020531 exon1 c.210+422_210+424delGGC 0.586062 0.9325 0.5459 0.9142 Uncertain 20_24950373_A->C 20 24950373 24950373 A C snp 682.77 1/1 51 22 0 22 1.0 intronic rs2064404 APMAP AU NM_020531 exon3 c.5848+77A>C 0.801717 0.996 Uncertain 20_24954163_G->- 20 24954163 24954163 G - indel 547.73 0/1 99 32 17 15 0.47 intronic rs66649227 APMAP AU NM_020531 exon6 c.9832-117delG 0.587061 0.9325 Uncertain 20_24959382_C->G 20 24959382 24959382 C G snp 403.77 0/1 99 27 10 17 0.63 intronic rs11087491 APMAP AU NM_020531 exon7 c.14954-20C>G 0.434704 0.5843 0.186606 0.5878 0.9142 Uncertain 20_24959385_A->C 20 24959385 24959385 A C snp 448.77 0/1 99 29 9 20 0.69 intronic rs6083703 APMAP AU NM_020531 exon7 c.14954-17A>C 0.0307508 0.278718 0.6249 0.9146 Uncertain 20_24959386_C->A 20 24959386 24959386 C A snp 214.77 0/1 99 31 21 10 0.32 intronic rs56312312 APMAP AU NM_020531 exon7 c.14954-16C>A 0.133387 0.0635 0.146317 0.2241 0.1271 Uncertain 20_24973383_A->G 20 24973383 24973383 A G snp 115.77 0/1 99 11 6 5 0.45 UTR5 rs6138456 APMAP AU 0.0832668 0.0605 Uncertain 20_24987438_C->T 20 24987438 24987438 C T snp 1750.77 1/1 99 60 0 60 1.0 UTR3 rs6083718 ACSS1 AU 0.869609 0.995 Uncertain 20_24987787_A->G 20 24987787 24987787 A G snp 39.77 0/1 68 4 2 2 0.5 UTR3 rs6132784 ACSS1 AU 0.0934505 0.0615 Uncertain 20_24993414_T->C 20 24993414 24993414 T C snp 1149.77 0/1 99 102 53 49 0.48 intronic rs6132785 ACSS1 AU NM_001252676 exon4 c.5050-33T>C 0.259984 0.0645 0.350992 0.2440 0.0764 Uncertain 20_24994289_C->T 20 24994289 24994289 C T snp 932.77 0/1 99 97 58 39 0.4 exonic rs6050249 ACSS1 AU nonsynonymous SNV NM_001252676 exon9 c.G1099A p.V367M 0.163938 0.0595 0.226050 0.1553 0.0744 0.03 T 0.000 P -1.038 T 0.19 T 0.082 T Pathogenic 20_25004071_G->T 20 25004071 25004071 G T snp 1191.77 1/1 87 38 0 38 1.0 intronic rs4813543 ACSS1 AU NM_001252676 exon11 c.15704-30G>T 0.982827 1 0.969091 0.9689 1 Uncertain 20_25011423_T->C 20 25011423 25011423 T C snp 3019.77 0/1 99 250 129 121 0.48 exonic rs6050259 ACSS1 AU synonymous SNV NM_001252676 exon2 c.A240G p.A80A 0.222644 0.0873 0.305398 0.2465 0.0975 Uncertain 20_25011639_A->G 20 25011639 25011639 A G snp 1579.77 0/1 99 135 72 63 0.47 intronic rs60849220 ACSS1 AU NM_001252676 exon12 c.23197+45A>G 0.0940495 0.0823 0.137783 0.1805 0.1344 Uncertain 20_25027526_G->A 20 25027526 25027526 G A snp 4019.77 1/1 99 156 0 156 1.0 intronic rs6083730 ACSS1 AU NM_001252675 exon13 c.40323-1194G>A 0.717252 0.7649 0.708057 0.6673 0.7708 Uncertain 20_25027587_G->C 20 25027587 25027587 G C snp 2768.77 1/1 99 101 0 101 1.0 intronic rs45574242 ACSS1 AU NM_001252675 exon13 c.40323-1133G>C 0.0804712 0.2302 Uncertain 20_25027630_G->A 20 25027630 25027630 G A snp 1926.77 1/1 99 52 0 52 1.0 intronic rs6106989 ACSS1 AU NM_001252675 exon13 c.40323-1090G>A 0.556909 0.754 Uncertain 20_25027692_G->A 20 25027692 25027692 G A snp 467.77 1/1 36 12 0 12 1.0 intronic rs6115015 ACSS1 AU NM_001252675 exon13 c.40323-1028G>A 0.611222 0.7679 Uncertain 20_25038484_G->T 20 25038484 25038484 G T snp 2077.77 0/1 99 181 90 91 0.5 exonic rs66817095 ACSS1 AU synonymous SNV NM_001252675 exon1 c.C255A p.T85T 0.191494 0.4812 0.123405 0.1802 0.4688 Uncertain 20_25053105_G->A 20 25053105 25053105 G A snp 862.77 0/1 99 67 34 33 0.49 intergenic rs743018 ACSS1 AU 0.438898 0.378 Uncertain 20_25059442_C->T 20 25059442 25059442 C T snp 1469.77 0/1 99 127 62 65 0.51 intronic rs6138482 VSX1 AU,AD NM_014588 exon3 c.2568-22C>T 0.215655 0.5268 0.145394 0.2063 0.5193 0 D 0.0 P -0.960 T 0.008 T 0.001 T Uncertain 20_25062652_G->A 20 25062652 25062652 G A snp 874.77 0/1 99 78 44 34 0.44 exonic rs566762847 VSX1 AU,AD synonymous SNV NM_014588 exon1 c.C81T p.R27R 0.00119808 0.006 0.0004 0.0099 Uncertain 20_25176296_A->C 20 25176296 25176296 A C snp 659.77 1/1 48 25 0 25 1.0 ncRNA_intronic rs6083773 LOC101926889 AU 1 1 Uncertain 20_25190598_A->G 20 25190598 25190598 A G snp 3613.77 1/1 99 118 0 118 1.0 intronic rs1007707 ENTPD6 AU NM_001247 exon4 c.3389+37A>G 0.632188 0.9107 0.545441 0.5139 0.9207 Uncertain 20_25195394_C->T 20 25195394 25195394 C T snp 356.78 1/1 27 13 0 13 1.0 intronic rs6050445 ENTPD6 AU NM_001247 exon6 c.8330-108C>T 0.630192 0.9107 Uncertain 20_25195509_A->G 20 25195509 25195509 A G snp 2399.77 1/1 99 91 0 91 1.0 exonic rs6050446 ENTPD6 AU nonsynonymous SNV NM_001114089 exon5 c.A553G p.K185E 0.993211 1 0.980855 0.9840 1 1 T 0.000 P -0.961 T 0.001 T 0.002 T Pathogenic 20_25197982_T->C 20 25197982 25197982 T C snp 1847.77 1/1 99 56 0 56 1.0 intronic rs4815394 ENTPD6 AU NM_001247 exon9 c.10965-155T>C 0.993211 1 Uncertain 20_25229231_C->G 20 25229231 25229231 C G snp 162.98 0/1 13 6 1 5 0.83 intronic rs2273473 PYGB AU NM_002862 exon1 c.243+174C>G 0.620208 0.8919 Uncertain 20_25239667_G->A 20 25239667 25239667 G A snp 135.03 1/1 12 4 0 4 1.0 intronic rs6115109 PYGB AU NM_002862 exon2 c.11058-205G>A 0.456669 0.9097 Uncertain 20_25252161_C->T 20 25252161 25252161 C T snp 2312.77 0/1 99 181 83 98 0.54 intronic rs2281559 PYGB AU NM_002862 exon4 c.23308+39C>T 0.16274 0.3532 0.150008 0.1662 0.3316 Uncertain 20_25257187_C->T 20 25257187 25257187 C T snp 158.77 0/1 99 17 11 6 0.35 intronic rs2281560 PYGB AU NM_002862 exon6 c.28467-94C>T 0.214058 0.5486 Uncertain 20_25257202_A->G 20 25257202 25257202 A G snp 447.77 0/1 99 37 18 19 0.51 intronic rs2281561 PYGB AU NM_002862 exon6 c.28467-79A>G 0.218051 0.5506 Uncertain 20_25257215_G->A 20 25257215 25257215 G A snp 671.77 0/1 99 55 32 23 0.42 intronic rs2254046 PYGB AU NM_002862 exon6 c.28467-66G>A 0.165935 0.3552 Uncertain 20_25257260_G->C 20 25257260 25257260 G C snp 1461.77 0/1 99 127 68 59 0.46 intronic rs2257370 PYGB AU NM_002862 exon6 c.28467-21G>C 0.17492 0.3552 0.152030 0.1738 0.3351 Uncertain 20_25257462_G->A 20 25257462 25257462 G A snp 5325.77 1/1 99 202 0 202 1.0 intronic rs2424699 PYGB AU NM_002862 exon6 c.28579+69G>A 0.466054 0.9087 Uncertain 20_25258916_-->CCCTGGGACTGGGTCATGGGGCATGTGCC 20 25258916 25258916 - CCCTGGGACTGGGTCATGGGGCATGTGCC indel 2196.77 1/1 21 7 0 7 1.0 intronic rs11466827 PYGB AU NM_002862 exon8 c.30140-38insCCCTGGGACTGGGTCATGGGGCATGTGCC 0.665535 0.9772 Uncertain 20_25259006_G->T 20 25259006 25259006 G T snp 1725.77 0/1 99 144 70 74 0.51 exonic rs2228976 PYGB AU nonsynonymous SNV NM_002862 exon8 c.G907T p.A303S 0.16234 0.3512 0.149854 0.1666 0.3305 0.06 T 1.000 P -1.863 T 0.971 D 0.941 D Pathogenic 20_25259200_T->C 20 25259200 25259200 T C snp 1338.77 1/1 99 42 0 42 1.0 intronic rs2261109 PYGB AU NM_002862 exon8 c.30284+102T>C 0.538938 0.9107 Uncertain 20_25259807_G->A 20 25259807 25259807 G A snp 3396.77 1/1 99 121 0 121 1.0 intronic rs2261115 PYGB AU NM_002862 exon9 c.30971+22G>A 0.513379 0.9107 0.410810 0.4715 0.9212 Uncertain 20_25259910_A->G 20 25259910 25259910 A G snp 801.77 1/1 60 20 0 20 1.0 intronic rs2261698 PYGB AU NM_002862 exon9 c.30971+125A>G 0.539137 0.9107 Uncertain 20_25260931_A->G 20 25260931 25260931 A G snp 5395.77 1/1 99 190 0 190 1.0 exonic rs2227890 PYGB AU synonymous SNV NM_002862 exon10 c.A1122G p.A374A 0.537141 0.9107 0.434953 0.4611 0.9213 Uncertain 20_25261771_C->T 20 25261771 25261771 C T snp 1993.77 0/1 99 174 90 84 0.48 intronic rs117228819 PYGB AU NM_002862 exon11 c.32934+23C>T 0.0295527 0.1429 0.000461 0.0107 0.1419 Uncertain 20_25261784_G->A 20 25261784 25261784 G A snp 4069.77 1/1 99 142 0 142 1.0 intronic rs2261747 PYGB AU NM_002862 exon11 c.32934+36G>A 0.514976 0.9107 0.411964 0.4552 0.9211 Uncertain 20_25262537_CTC->- 20 25262537 25262539 CTC - indel 933.73 1/1 48 16 0 16 1.0 intronic rs10582106 PYGB AU NM_002862 exon12 c.33854-131_33854-129delCTC 0.452276 0.9077 Uncertain 20_25262769_G->A 20 25262769 25262769 G A snp 507.77 0/1 99 49 26 23 0.47 exonic rs2227891 PYGB AU nonsynonymous SNV NM_002862 exon12 c.G1504A p.D502N 0.162141 0.3502 0.149408 0.1672 0.3293 0.2 T 1.000 P -1.124 T 0.009 T 0.012 T Pathogenic 20_25262789_T->C 20 25262789 25262789 T C snp 1176.77 1/1 84 42 0 42 1.0 splicing rs2261790 PYGB AU NM_002862 exon12 c.33969+6T>C 0.536741 0.9107 0.429483 0.4630 0.9206 Pathogenic 20_25263648_G->A 20 25263648 25263648 G A snp 242.8 1/1 21 8 0 8 1.0 intronic rs2145126 PYGB AU NM_002862 exon13 c.34997-163G>A 0.536941 0.9107 Uncertain 20_25264664_T->C 20 25264664 25264664 T C snp 957.77 1/1 69 31 0 31 1.0 intronic rs2257705 PYGB AU NM_002862 exon14 c.35925-75T>C 0.536941 0.9107 Uncertain 20_25264814_T->C 20 25264814 25264814 T C snp 1910.77 1/1 99 69 0 69 1.0 exonic rs2227892 PYGB AU synonymous SNV NM_002862 exon14 c.T1695C p.D565D 0.536941 0.9107 0.434953 0.4609 0.9213 Uncertain 20_25264910_T->C 20 25264910 25264910 T C snp 722.77 1/1 54 22 1 21 0.95 intronic rs2257712 PYGB AU NM_002862 exon14 c.36073+23T>C 0.536941 0.9107 0.434799 0.4610 0.9212 Uncertain 20_25268920_T->C 20 25268920 25268920 T C snp 3372.77 1/1 99 126 0 126 1.0 intronic rs3002702 PYGB AU NM_002862 exon15 c.40246-140T>C 0.538938 0.9107 0.5509 0.9224 Uncertain 20_25270339_T->C 20 25270339 25270339 T C snp 1391.77 1/1 99 38 0 38 1.0 intronic rs2257991 PYGB AU NM_002862 exon16 c.42302-777T>C 0.536142 0.9107 Uncertain 20_25271033_C->G 20 25271033 25271033 C G snp 215.77 0/1 99 14 7 7 0.5 intronic rs2258053 PYGB AU NM_002862 exon16 c.42302-83C>G 0.164137 0.3522 Uncertain 20_25271086_T->C 20 25271086 25271086 T C snp 1801.77 1/1 99 57 0 57 1.0 intronic rs2257432 PYGB AU NM_002862 exon16 c.42302-30T>C 0.536342 0.9107 0.432570 0.4598 0.9213 Uncertain 20_25271326_C->T 20 25271326 25271326 C T snp 2294.77 1/1 99 70 0 70 1.0 intronic rs2258066 PYGB AU NM_002862 exon16 c.42444+68C>T 0.536342 0.9107 Uncertain 20_25273362_G->A 20 25273362 25273362 G A snp 951.77 0/1 99 71 35 36 0.51 intronic rs2281562 PYGB AU NM_002862 exon17 c.44435+113G>A 0.288938 0.5565 Uncertain 20_25273435_C->T 20 25273435 25273435 C T snp 377.77 1/1 30 10 0 10 1.0 intronic rs2258563 PYGB AU NM_002862 exon17 c.44435+186C>T 0.536142 0.9107 Uncertain 20_25275554_TTAGTT->- 20 25275554 25275559 TTAGTT - indel 3058.73 1/1 99 37 0 37 1.0 intronic rs16436 PYGB AU NM_002862 exon18 c.46114+626_46114+631delTTAGTT 0.608826 0.9266 0.458007 Uncertain 20_25275843_C->T 20 25275843 25275843 C T snp 543.77 1/1 42 15 0 15 1.0 intronic rs2258719 PYGB AU NM_002862 exon19 c.47425-396C>T 0.451078 0.9058 Uncertain 20_25275870_A->G 20 25275870 25275870 A G snp 256.8 1/1 21 7 0 7 1.0 intronic rs2258720 PYGB AU NM_002862 exon19 c.47425-369A>G 0.958666 0.999 Uncertain 20_25275890_C->A 20 25275890 25275890 C A snp 90.28 1/1 9 3 0 3 1.0 intronic rs2257420 PYGB AU NM_002862 exon19 c.47425-349C>A 0.535343 0.9107 Uncertain 20_25276108_G->A 20 25276108 25276108 G A snp 38.77 0/1 33 3 1 2 0.67 intronic rs2424705 PYGB AU NM_002862 exon19 c.47425-131G>A 0.162939 0.3492 Uncertain 20_25276297_G->A 20 25276297 25276297 G A snp 3299.77 1/1 99 125 0 125 1.0 exonic rs1130694 PYGB AU synonymous SNV NM_002862 exon19 c.G2370A p.Q790Q 0.511581 0.9107 0.404583 0.4480 0.9213 1.000 P -1.040 T Likely benign 20_25276343_G->A 20 25276343 25276343 G A snp 3091.77 1/1 99 119 0 119 1.0 intronic rs2258728 PYGB AU NM_002862 exon19 c.47492+37G>A 0.533147 0.9107 0.426803 0.4555 0.9214 Uncertain 20_25277244_A->G 20 25277244 25277244 A G snp 222.84 1/1 18 6 0 6 1.0 UTR3 rs9927 PYGB AU 0.558307 0.9087 Uncertain 20_25281333_G->A 20 25281333 25281333 G A snp 340.78 1/1 27 9 0 9 1.0 UTR3 rs1046073 ABHD12 AR 0.535942 0.9107 Uncertain 20_25281398_C->T 20 25281398 25281398 C T snp 1737.77 1/1 99 57 0 57 1.0 UTR3 rs2424708 ABHD12 AR 0.451677 0.9077 Uncertain 20_25281733_T->C 20 25281733 25281733 T C snp 169.9 1/1 15 5 0 5 1.0 intronic rs2259926 ABHD12 AR NM_001042472 exon1 c.40+213T>C 0.536342 0.9107 Uncertain 20_25282944_A->G 20 25282944 25282944 A G snp 797.77 1/1 57 31 0 31 1.0 exonic rs10966 ABHD12 AR synonymous SNV NM_001042472 exon12 c.T1068C p.D356D 0.541534 0.9107 0.441412 0.4632 0.9213 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000116214.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 20_25284343_T->C 20 25284343 25284343 T C snp 2230.77 1/1 99 80 0 80 1.0 intronic rs2260197 ABHD12 AR NM_015600 exon3 c.8656+79T>C 0.769169 0.994 Uncertain 20_25301022_G->A 20 25301022 25301022 G A snp 529.77 0/1 99 38 17 21 0.55 intronic rs2274890 ABHD12 AR NM_015600 exon10 c.25346+68G>A 0.28754 0.5546 Uncertain 20_25422483_A->C 20 25422483 25422483 A C snp 115.77 0/1 99 18 10 8 0.44 intronic rs3764694 GINS1 AU NM_021067 exon6 c.33956+71A>C 0.213858 0.5675 Uncertain 20_25426694_A->- 20 25426694 25426694 A - indel 3495.73 1/1 99 81 0 81 1.0 UTR3 rs5841057 GINS1 AU 0.54353 0.9107 0.445048 Uncertain 20_25434351_A->G 20 25434351 25434351 A G snp 383.77 0/1 99 20 7 13 0.65 intronic rs2072975 NINL AU NM_025176 exon1 c.192+73A>G 0.167133 0.3552 Uncertain 20_25436283_C->G 20 25436283 25436283 C G snp 381.77 0/1 99 50 31 19 0.38 intronic rs2235607 NINL AU NM_025176 exon2 c.2222-25C>G 0.163339 0.3522 0.152391 0.1682 0.3346 Uncertain 20_25436466_C->T 20 25436466 25436466 C T snp 1268.77 0/1 99 88 37 51 0.58 intronic rs12481409 NINL AU NM_025176 exon2 c.2336+44C>T 0.217452 0.5526 0.104875 0.1736 0.5812 Uncertain 20_25439389_T->C 20 25439389 25439389 T C snp 164.78 0/1 24 6 1 5 0.83 intronic rs2235605 NINL AU NM_025176 exon3 c.5079+224T>C 0.164337 0.3532 Uncertain 20_25442049_G->A 20 25442049 25442049 G A snp 135.03 1/1 12 4 0 4 1.0 intronic rs6107046 NINL AU NM_025176 exon4 c.8071-108G>A 0.478235 0.9067 Uncertain 20_25442097_G->A 20 25442097 25442097 G A snp 761.77 1/1 57 24 0 24 1.0 intronic rs6107047 NINL AU NM_025176 exon4 c.8071-60G>A 0.478235 0.9067 Uncertain 20_25442992_C->G 20 25442992 25442992 C G snp 77.77 0/1 69 5 2 3 0.6 intronic rs2387889 NINL AU NM_025176 exon5 c.8932-26C>G 0.3323 0.3870 Uncertain 20_25442997_C->G 20 25442997 25442997 C G snp 77.77 0/1 69 5 2 3 0.6 intronic rs559771 NINL AU NM_025176 exon5 c.8932-21C>G 0.459864 0.4415 0.3300 0.3874 Uncertain 20_25447896_A->G 20 25447896 25447896 A G snp 714.77 1/1 54 23 0 23 1.0 intronic rs404394 NINL AU NM_025176 exon6 c.13938-128A>G 0.538738 0.9097 Uncertain 20_25447931_A->G 20 25447931 25447931 A G snp 1662.77 1/1 99 55 0 55 1.0 intronic rs404148 NINL AU NM_025176 exon6 c.13938-93A>G 0.768171 0.9931 Uncertain 20_25456888_A->G 20 25456888 25456888 A G snp 3565.77 1/1 99 118 0 118 1.0 exonic rs437635 NINL AU synonymous SNV NM_025176 exon17 c.T3039C p.S1013S 0.558107 0.9067 0.458865 0.4660 0.9206 Uncertain 20_25457050_CTCCCA->- 20 25457050 25457055 CTCCCA - indel 7750.73 1/1 99 90 0 90 1.0 exonic rs34410422 NINL AU nonframeshift deletion NM_025176 exon17 c.2872_2877del p.958_959del 0.557308 0.9067 0.421457 0.4545 0.9113 ID=COSM1025361;OCCURENCE=2(haematopoietic_and_lymphoid_tissue),5(large_intestine),1(endometrium) Uncertain 20_25459919_G->A 20 25459919 25459919 G A snp 1228.77 1/1 90 43 0 43 1.0 intronic rs84816 NINL AU NM_025176 exon9 c.25756+77G>A 0.538738 0.9067 Uncertain 20_25469844_A->G 20 25469844 25469844 A G snp 3131.77 0/1 99 250 132 118 0.47 intronic rs2072977 NINL AU NM_025176 exon12 c.35793-35A>G 0.167133 0.3562 0.151853 0.1684 0.3392 Uncertain 20_25470056_T->C 20 25470056 25470056 T C snp 633.77 1/1 48 18 0 18 1.0 intronic rs431579 NINL AU NM_025176 exon12 c.35874+96T>C 0.558307 0.9067 Uncertain 20_25470070_G->A 20 25470070 25470070 G A snp 233.77 0/1 99 13 5 8 0.62 intronic rs2072976 NINL AU NM_025176 exon12 c.35874+110G>A 0.217053 0.5466 Uncertain 20_25479058_A->G 20 25479058 25479058 A G snp 1286.77 1/1 93 47 0 47 1.0 intronic rs400357 NINL AU NM_025176 exon16 c.44896+76A>G 0.638578 0.9772 Uncertain 20_25520827_-->AC 20 25520827 25520827 - AC indel 3965.73 1/1 99 83 0 83 1.0 intronic rs11472175 NINL AU NM_025176 exon23 c.73148+13593insAC 0.950879 0.997 Uncertain 20_25755672_G->T 20 25755672 25755672 G T snp 73.77 0/1 99 14 9 5 0.36 ncRNA_intronic rs2721991 FAM182B AU 0.411741 0.3879 0.3636 0.4095 0.52 T 0.0 P -1.013 T Uncertain 20_25756059_C->A 20 25756059 25756059 C A snp 37.77 0/1 66 8 6 2 0.25 ncRNA_intronic rs6138659 FAM182B AU 0.145168 0.2917 Uncertain 20_25829152_A->G 20 25829152 25829152 A G snp 164.77 0/1 99 19 7 12 0.63 ncRNA_exonic rs72490858 LOC101926935 AU Uncertain 20_25829168_T->C 20 25829168 25829168 T C snp 359.77 0/1 99 36 14 22 0.61 ncRNA_exonic rs72490859 LOC101926935 AU Uncertain 20_25829184_A->G 20 25829184 25829184 A G snp 501.77 0/1 99 56 20 36 0.64 ncRNA_exonic rs74788234 LOC101926935 AU 0.000599042 Uncertain 20_25829260_C->T 20 25829260 25829260 C T snp 406.77 0/1 99 249 212 37 0.15 ncRNA_exonic rs4114274 LOC101926935 AU 0.0545128 Uncertain 20_25829290_G->T 20 25829290 25829290 G T snp 2643.77 0/1 99 249 107 142 0.57 ncRNA_exonic rs75735480 LOC101926935 AU 0.000399361 0.001 Uncertain 20_25829292_C->T 20 25829292 25829292 C T snp 750.77 0/1 99 250 189 61 0.24 ncRNA_exonic rs76588078 LOC101926935 AU 0.1623 0.3618 Uncertain 20_25829312_G->T 20 25829312 25829312 G T snp 647.77 0/1 99 250 193 57 0.23 ncRNA_exonic rs78355493 LOC101926935 AU 0.1677 0.2934 Uncertain 20_25829319_A->G 20 25829319 25829319 A G snp 2397.77 0/1 99 250 113 137 0.55 ncRNA_exonic rs76467023 LOC101926935 AU 0.2970 0.4288 Uncertain 20_25829329_A->T 20 25829329 25829329 A T snp 220.77 0/1 99 250 216 34 0.14 ncRNA_exonic rs754627517 LOC101926935 AU 0.0035 0.0031 Uncertain 20_25829335_C->G 20 25829335 25829335 C G snp 188.77 0/1 99 250 218 32 0.13 ncRNA_exonic rs778064658 LOC101926935 AU 0.0002 0 Uncertain 20_25829342_T->C 20 25829342 25829342 T C snp 2505.77 0/1 99 249 114 135 0.54 ncRNA_exonic rs75063166 LOC101926935 AU 0.4690 0.4825 Uncertain 20_25829352_T->C 20 25829352 25829352 T C snp 2528.77 0/1 99 249 109 140 0.56 ncRNA_exonic rs74961672 LOC101926935 AU 0.4722 0.4859 Uncertain 20_25829384_T->C 20 25829384 25829384 T C snp 2086.77 0/1 99 226 104 122 0.54 ncRNA_exonic rs75757905 LOC101926935 AU 0.4229 0.4875 Uncertain 20_25829386_A->G 20 25829386 25829386 A G snp 2023.77 0/1 99 224 104 120 0.54 ncRNA_exonic rs74835374 LOC101926935 AU 0.4220 0.4845 Uncertain 20_25829435_C->T 20 25829435 25829435 C T snp 848.77 0/1 99 145 88 57 0.39 ncRNA_exonic rs79037868 LOC101926935 AU Uncertain 20_25829436_T->C 20 25829436 25829436 T C snp 301.77 0/1 99 143 119 24 0.17 ncRNA_exonic rs73348912 LOC101926935 AU Uncertain 20_25829470_A->T 20 25829470 25829470 A T snp 227.77 0/1 99 49 38 11 0.22 ncRNA_exonic rs75119730 LOC101926935 AU Uncertain 20_25829502_A->G 20 25829502 25829502 A G snp 172.82 0/1 19 10 1 9 0.9 ncRNA_exonic rs62214070 LOC101926935 AU Uncertain 20_25900014_T->C 20 25900014 25900014 T C snp 111.77 0/1 99 8 3 5 0.63 intergenic rs11697459 LOC101926935 AU Uncertain 20_25900042_A->C 20 25900042 25900042 A C snp 479.77 0/1 99 27 11 16 0.59 intergenic rs11699407 LOC101926935 AU Uncertain 20_25900078_A->C 20 25900078 25900078 A C snp 670.77 0/1 99 82 51 31 0.38 intergenic rs78346173 LOC101926935 AU Uncertain 20_25900083_G->C 20 25900083 25900083 G C snp 96.77 0/1 99 91 81 10 0.11 intergenic rs11699454 LOC101926935 AU Uncertain 20_25900128_A->T 20 25900128 25900128 A T snp 497.77 0/1 99 185 149 36 0.19 intergenic rs79754881 LOC101926935 AU Uncertain 20_25900135_C->A 20 25900135 25900135 C A snp 1085.77 0/1 99 195 137 58 0.3 intergenic rs11699441 LOC101926935 AU Uncertain 20_25900162_C->A 20 25900162 25900162 C A snp 1145.77 0/1 99 212 153 59 0.28 intergenic rs6037279 LOC101926935 AU Uncertain 20_25900191_AATT->- 20 25900191 25900194 AATT - indel 2922.73 0/1 99 200 142 58 0.29 intergenic rs199687742 LOC101926935 AU Uncertain 20_25900215_T->C 20 25900215 25900215 T C snp 335.77 0/1 99 189 161 28 0.15 intergenic rs189420178 LOC101926935 AU Uncertain 20_25900249_G->A 20 25900249 25900249 G A snp 322.77 0/1 99 125 101 24 0.19 intergenic rs62212279 LOC101926935 AU Uncertain 20_25900262_G->A 20 25900262 25900262 G A snp 114.77 0/1 99 102 88 14 0.14 intergenic rs76621451 LOC101926935 AU Uncertain 20_25900273_A->G 20 25900273 25900273 A G snp 52.77 0/1 81 79 67 12 0.15 intergenic rs62212280 LOC101926935 AU Uncertain 20_25900276_G->T 20 25900276 25900276 G T snp 189.77 0/1 99 73 58 15 0.21 intergenic rs75406844 LOC101926935 AU Uncertain 20_26061710_G->C 20 26061710 26061710 G C snp 318.78 1/1 27 10 0 10 1.0 ncRNA_intronic rs201237162 FAM182A AU Uncertain 20_26061715_G->A 20 26061715 26061715 G A snp 346.77 1/1 30 11 0 11 1.0 ncRNA_intronic rs79344661 FAM182A AU Uncertain 20_26061719_G->A 20 26061719 26061719 G A snp 165.77 0/1 99 13 7 6 0.46 ncRNA_intronic rs75637629 FAM182A AU Uncertain 20_26061746_-->TTT 20 26061746 26061746 - TTT indel 374.73 0/1 99 19 9 10 0.53 ncRNA_intronic FAM182A AU Uncertain 20_26061803_C->A 20 26061803 26061803 C A snp 223.77 0/1 99 58 37 21 0.36 ncRNA_exonic rs78281752 FAM182A AU 0.4487 0.4629 0 D 0.583 D -0.575 T Uncertain 20_26061818_G->C 20 26061818 26061818 G C snp 189.77 0/1 99 67 49 18 0.27 ncRNA_exonic rs112101451 FAM182A AU 0.1163 0.2146 0 D 0.806 N -0.849 T Uncertain 20_26061859_G->T 20 26061859 26061859 G T snp 420.77 0/1 99 73 39 34 0.47 ncRNA_exonic rs74752031 FAM182A AU 0.1694 0.3054 0 D 1.000 A Uncertain 20_26061865_G->T 20 26061865 26061865 G T snp 60.77 0/1 89 71 57 14 0.2 ncRNA_exonic rs79051971 FAM182A AU 0.0804 0.1601 0.3 T 1.000 A Uncertain 20_26061877_G->A 20 26061877 26061877 G A snp 229.77 0/1 99 62 40 22 0.35 ncRNA_exonic rs74473084 FAM182A AU 0.0221645 0.0516 0.1048 0.1635 0.5 T 1 N -1.000 T Uncertain 20_26061880_A->G 20 26061880 26061880 A G snp 236.77 0/1 99 62 41 21 0.34 ncRNA_exonic rs80023315 FAM182A AU 0.0221645 0.0516 0.1062 0.1567 0.4 T 1 N -1.003 T Uncertain 20_26061884_C->G 20 26061884 26061884 C G snp 240.77 0/1 99 64 43 21 0.33 ncRNA_exonic rs78196071 FAM182A AU 0.0253594 0.0645 0.0985 0.1606 0.21 T 0.0 P -1.033 T Uncertain 20_26063560_G->A 20 26063560 26063560 G A snp 1558.77 1/1 99 57 0 57 1.0 ncRNA_exonic rs5742261 FAM182A AU 0.632987 0.5694 0.5717 0.7063 1 T 0.0 P -0.934 T Uncertain 20_26063577_C->T 20 26063577 26063577 C T snp 47.77 0/1 76 61 51 10 0.16 ncRNA_exonic rs201158839 FAM182A AU 0.000199681 0.0027 0.0135 Uncertain 20_26063579_C->A 20 26063579 26063579 C A snp 47.77 0/1 76 59 49 10 0.17 ncRNA_exonic rs201752002 FAM182A AU 0.0026 0.0183 0.32 T 0.0 P -1.013 T Uncertain 20_26063625_T->C 20 26063625 26063625 T C snp 258.77 0/1 99 64 42 22 0.34 ncRNA_exonic rs77830989 FAM182A AU 0.1966 0.3864 Uncertain 20_26063643_G->A 20 26063643 26063643 G A snp 279.77 0/1 99 54 31 23 0.43 ncRNA_exonic rs41275516 FAM182A AU 0.3488 0.4958 Uncertain 20_26063645_G->A 20 26063645 26063645 G A snp 285.77 0/1 99 53 31 22 0.42 ncRNA_exonic rs73105823 FAM182A AU 0.3567 0.5021 Uncertain 20_26063684_A->G 20 26063684 26063684 A G snp 319.77 0/1 99 36 13 23 0.64 ncRNA_exonic rs78016604 FAM182A AU 0.0171725 Uncertain 20_26063696_A->T 20 26063696 26063696 A T snp 319.77 0/1 99 33 11 22 0.67 ncRNA_exonic rs374797956 FAM182A AU Uncertain 20_26063712_A->T 20 26063712 26063712 A T snp 265.77 0/1 99 24 5 19 0.79 ncRNA_exonic rs113808324 FAM182A AU Uncertain 20_26063726_T->C 20 26063726 26063726 T C snp 132.77 0/1 99 13 5 8 0.62 ncRNA_exonic rs199551690 FAM182A AU 0.000199681 Uncertain 20_26063752_T->G 20 26063752 26063752 T G snp 72.77 0/1 64 7 2 5 0.71 ncRNA_exonic rs78544920 FAM182A AU Uncertain 20_26072248_C->T 20 26072248 26072248 C T snp 564.77 1/1 45 29 0 29 1.0 intergenic rs6138789 FAM182A AU 0.22504 0.4633 Uncertain 20_26072269_T->C 20 26072269 26072269 T C snp 189.84 1/1 18 14 0 14 1.0 intergenic rs2424731 FAM182A AU 0.544329 0.8304 Uncertain 20_26094383_C->T 20 26094383 26094383 C T snp 214.77 0/1 99 41 16 25 0.61 ncRNA_intronic rs79410401 NCOR1P1 AU Uncertain 20_26094384_A->G 20 26094384 26094384 A G snp 266.77 0/1 99 44 17 27 0.61 ncRNA_intronic rs78671450 NCOR1P1 AU Uncertain 20_26094406_-->C 20 26094406 26094406 - C indel 628.73 0/1 99 71 43 28 0.39 ncRNA_intronic NCOR1P1 AU Uncertain 20_26094409_T->A 20 26094409 26094409 T A snp 856.77 0/1 99 95 47 48 0.51 ncRNA_intronic NCOR1P1 AU Uncertain 20_26094420_T->C 20 26094420 26094420 T C snp 1766.77 0/1 99 153 68 85 0.56 ncRNA_intronic NCOR1P1 AU Uncertain 20_26094476_C->- 20 26094476 26094476 C - indel 4534.73 0/1 99 216 91 125 0.58 ncRNA_intronic rs374094583 NCOR1P1 AU 0.1228 0.0602 Uncertain 20_26094484_AT->- 20 26094484 26094485 AT - indel 5964.73 0/1 99 217 93 124 0.57 ncRNA_intronic rs146324498 NCOR1P1 AU 0.1912 0.1520 Uncertain 20_26094501_T->C 20 26094501 26094501 T C snp 2794.77 0/1 99 249 149 100 0.4 ncRNA_intronic rs76641988 NCOR1P1 AU 0.3286 0.3762 Uncertain 20_26094525_T->C 20 26094525 26094525 T C snp 340.77 0/1 99 250 198 52 0.21 ncRNA_exonic rs62211580 NCOR1P1 AU 0.0136 0.0242 Uncertain 20_26094564_T->G 20 26094564 26094564 T G snp 3533.77 0/1 99 246 123 123 0.5 ncRNA_exonic rs79802274 NCOR1P1 AU 0.5003 0.4998 Uncertain 20_26094567_T->C 20 26094567 26094567 T C snp 4556.77 0/1 99 250 67 183 0.73 ncRNA_exonic rs62211581 NCOR1P1 AU 0.5012 0.5015 Uncertain 20_26094605_G->A 20 26094605 26094605 G A snp 3209.76 0/1 99 224 112 112 0.5 ncRNA_exonic rs150462295 NCOR1P1 AU 0.000399361 0.4958 0.4946 Uncertain 20_26094609_C->A 20 26094609 26094609 C A snp 3078.77 0/1 99 219 110 109 0.5 ncRNA_exonic rs80248029 NCOR1P1 AU 0.4964 0.4945 Uncertain 20_26094638_C->T 20 26094638 26094638 C T snp 2799.77 0/1 99 189 93 96 0.51 ncRNA_exonic rs76011113 NCOR1P1 AU 0.4993 0.4983 Uncertain 20_26094651_T->C 20 26094651 26094651 T C snp 2707.77 0/1 99 176 82 94 0.53 ncRNA_exonic rs77014314 NCOR1P1 AU 0.4992 0.4982 Uncertain 20_26094660_T->C 20 26094660 26094660 T C snp 3132.77 0/1 99 166 49 117 0.7 ncRNA_exonic rs75350116 NCOR1P1 AU 0.4996 0.4986 Uncertain 20_26094689_A->C 20 26094689 26094689 A C snp 1400.77 0/1 99 67 22 45 0.67 upstream rs79312112 NCOR1P1 AU Uncertain 20_26188747_A->G 20 26188747 26188747 A G snp 740.18 0/1 10 27 2 25 0.93 ncRNA_intronic rs79465332 MIR663AHG AU Uncertain 20_26188751_A->G 20 26188751 26188751 A G snp 2290.77 1/1 49 74 4 70 0.95 ncRNA_intronic rs62196803 MIR663AHG AU Uncertain 20_26188782_T->C 20 26188782 26188782 T C snp 8374.77 1/1 99 249 2 247 0.99 ncRNA_intronic rs62196804 MIR663AHG AU Uncertain 20_26188797_-->C 20 26188797 26188797 - C indel 10743.7 1/1 99 248 5 243 0.98 ncRNA_intronic rs370698558 MIR663AHG AU 0.002757 0 0 Uncertain 20_26188805_G->C 20 26188805 26188805 G C snp 8392.77 1/1 99 247 7 240 0.97 ncRNA_intronic rs376064495 MIR663AHG AU 0 0 Uncertain 20_26188806_A->G 20 26188806 26188806 A G snp 8110.77 1/1 99 246 8 238 0.97 ncRNA_intronic rs368616262 MIR663AHG AU Uncertain 20_26188824_T->C 20 26188824 26188824 T C snp 8764.77 1/1 99 248 4 244 0.98 ncRNA_exonic rs28670321 MIR663A AU 0.0001 0 Uncertain 20_26188912_A->C 20 26188912 26188912 A C snp 7478.77 0/1 98 249 25 224 0.9 ncRNA_exonic rs7266947 MIR663A AU Uncertain 20_26188923_A->C 20 26188923 26188923 A C snp 6900.77 0/1 99 244 32 212 0.87 ncRNA_intronic rs62196805 MIR663AHG AU Uncertain 20_26188930_A->G 20 26188930 26188930 A G snp 6632.77 0/1 99 220 38 182 0.83 ncRNA_intronic rs199920667 MIR663AHG AU Uncertain 20_26188934_C->A 20 26188934 26188934 C A snp 5534.77 0/1 99 219 43 176 0.8 ncRNA_intronic rs374365309 MIR663AHG AU Uncertain 20_26188936_T->C 20 26188936 26188936 T C snp 6516.77 0/1 99 219 40 179 0.82 ncRNA_intronic rs367897807 MIR663AHG AU Uncertain 20_26188942_A->G 20 26188942 26188942 A G snp 5786.77 0/1 99 248 75 173 0.7 ncRNA_intronic rs372087370 MIR663AHG AU Uncertain 20_26188950_-->G 20 26188950 26188950 - G indel 3010.73 0/1 99 248 129 119 0.48 ncRNA_intronic rs374803620 MIR663AHG AU Uncertain 20_26188951_T->G 20 26188951 26188951 T G snp 4720.77 0/1 99 227 57 170 0.75 ncRNA_intronic rs375032346 MIR663AHG AU Uncertain 20_26188954_T->C 20 26188954 26188954 T C snp 4447.77 0/1 99 228 92 136 0.6 ncRNA_intronic rs369481709 MIR663AHG AU Uncertain 20_26188963_-->G 20 26188963 26188963 - G indel 4064.73 0/1 99 239 106 133 0.56 ncRNA_intronic rs367883420 MIR663AHG AU Uncertain 20_26188973_A->G 20 26188973 26188973 A G snp 4123.77 0/1 99 242 116 126 0.52 ncRNA_intronic rs372007260 MIR663AHG AU Uncertain 20_26188976_C->A 20 26188976 26188976 C A snp 320.77 0/1 99 245 215 30 0.12 ncRNA_intronic rs75387386 MIR663AHG AU Uncertain 20_26188981_A->G 20 26188981 26188981 A G snp 4055.77 0/1 99 237 115 122 0.51 ncRNA_intronic rs375334500 MIR663AHG AU Uncertain 20_26188989_A->G 20 26188989 26188989 A G snp 2655.77 0/1 99 193 117 76 0.39 ncRNA_intronic rs28410824 MIR663AHG AU Uncertain 20_26188993_T->C 20 26188993 26188993 T C snp 2921.77 0/1 99 171 85 86 0.5 ncRNA_intronic rs114732711 MIR663AHG AU Uncertain 20_26188994_-->GA 20 26188994 26188994 - GA indel 2378.73 0/1 99 173 100 73 0.42 ncRNA_intronic MIR663AHG AU Uncertain 20_26188995_A->C 20 26188995 26188995 A C snp 2473.77 0/1 99 172 101 71 0.41 ncRNA_intronic MIR663AHG AU Uncertain 20_26189001_A->C 20 26189001 26189001 A C snp 649.77 0/1 99 174 146 28 0.16 ncRNA_intronic rs370136936 MIR663AHG AU Uncertain 20_26189002_G->C 20 26189002 26189002 G C snp 1331.77 0/1 99 175 131 44 0.25 ncRNA_intronic rs143959040 MIR663AHG AU Uncertain 20_26189003_G->C 20 26189003 26189003 G C snp 2838.77 0/1 99 176 93 83 0.47 ncRNA_intronic rs142992890 MIR663AHG AU Uncertain 20_26189004_G->A 20 26189004 26189004 G A snp 2389.77 0/1 99 176 105 71 0.4 ncRNA_intronic rs114289380 MIR663AHG AU Uncertain 20_26189007_-->C 20 26189007 26189007 - C indel 2344.73 0/1 99 177 105 72 0.41 ncRNA_intronic rs367646429 MIR663AHG AU Uncertain 20_26189009_A->G 20 26189009 26189009 A G snp 4118.77 0/1 99 227 104 123 0.54 ncRNA_intronic rs76285564 MIR663AHG AU Uncertain 20_26189098_-->G 20 26189098 26189098 - G indel 5641.73 0/1 99 183 26 157 0.86 ncRNA_intronic rs371038345 MIR663AHG AU Uncertain 20_26189108_A->C 20 26189108 26189108 A C snp 5440.77 0/1 99 169 21 148 0.88 ncRNA_intronic rs5000466 MIR663AHG AU Uncertain 20_26189125_C->G 20 26189125 26189125 C G snp 4964.78 1/1 26 148 10 138 0.93 ncRNA_intronic rs5000467 MIR663AHG AU Uncertain 20_26189132_C->G 20 26189132 26189132 C G snp 4663.77 1/1 53 136 9 127 0.93 ncRNA_intronic rs5000468 MIR663AHG AU Uncertain 20_26189142_G->A 20 26189142 26189142 G A snp 4217.77 1/1 67 124 7 117 0.94 ncRNA_intronic rs5002444 MIR663AHG AU Uncertain 20_26189153_A->C 20 26189153 26189153 A C snp 3661.77 1/1 99 101 2 99 0.98 ncRNA_intronic rs5002445 MIR663AHG AU Uncertain 20_29625701_G->A 20 29625701 29625701 G A snp 216.77 0/1 53 9 2 7 0.78 ncRNA_intronic rs4010921 FRG1B AU Uncertain 20_29625716_C->T 20 29625716 29625716 C T snp 648.77 0/1 99 52 31 21 0.4 ncRNA_intronic rs73621453 FRG1B AU Uncertain 20_29625720_A->T 20 29625720 29625720 A T snp 833.77 0/1 99 68 42 26 0.38 ncRNA_intronic rs73621454 FRG1B AU Uncertain 20_29625733_C->T 20 29625733 29625733 C T snp 417.77 0/1 99 129 109 20 0.16 ncRNA_intronic FRG1B AU Uncertain 20_29625745_A->T 20 29625745 29625745 A T snp 2891.77 0/1 99 201 115 86 0.43 ncRNA_intronic rs73621455 FRG1B AU Uncertain 20_29625749_G->A 20 29625749 29625749 G A snp 629.77 0/1 99 235 199 36 0.15 ncRNA_intronic FRG1B AU Uncertain 20_29625769_C->T 20 29625769 29625769 C T snp 1407.77 0/1 99 250 178 72 0.29 ncRNA_intronic rs78251253 FRG1B AU Uncertain 20_29625788_C->T 20 29625788 29625788 C T snp 2682.77 0/1 99 249 155 94 0.38 ncRNA_intronic rs4635596 FRG1B AU Uncertain 20_29625817_T->C 20 29625817 29625817 T C snp 637.77 0/1 99 250 206 44 0.18 ncRNA_intronic rs75736243 FRG1B AU Uncertain 20_29625818_C->T 20 29625818 29625818 C T snp 42.77 0/1 71 250 231 19 0.08 ncRNA_intronic rs149947792 FRG1B AU Uncertain 20_29625832_T->C 20 29625832 29625832 T C snp 698.77 0/1 99 248 206 42 0.17 ncRNA_intronic rs75914051 FRG1B AU Uncertain 20_29625838_C->A 20 29625838 29625838 C A snp 6730.77 0/1 99 250 23 227 0.91 ncRNA_intronic rs62198353 FRG1B AU 0.5119 0.5122 Uncertain 20_29625852_A->G 20 29625852 29625852 A G snp 2079.77 0/1 99 250 180 70 0.28 ncRNA_intronic rs79978281 FRG1B AU 8.484e-06 0.0001 Uncertain 20_29625855_T->C 20 29625855 29625855 T C snp 1978.77 0/1 99 250 180 70 0.28 ncRNA_intronic rs78946960 FRG1B AU Uncertain 20_29625876_C->T 20 29625876 29625876 C T snp 946.77 0/1 99 250 202 48 0.19 ncRNA_exonic rs73611718 FRG1B AU 0.5003 0.5002 Uncertain 20_29625877_G->A 20 29625877 29625877 G A snp 4332.77 0/1 99 250 105 145 0.58 ncRNA_exonic rs7266938 FRG1B AU 0.0004 0.0021 0.23 T 1.000 D -0.936 T 0.099 T 0.082 T Uncertain 20_29625925_-->TTG 20 29625925 29625925 - TTG indel 8342.73 0/1 99 218 33 185 0.85 ncRNA_exonic rs112430454 FRG1B AU 0.4941 0.4941 Uncertain 20_29625935_A->G 20 29625935 29625935 A G snp 1010.77 0/1 99 248 183 65 0.26 ncRNA_exonic rs62198354 FRG1B AU 0.4974 0.4976 1 T 0.001 P -0.968 T 0.0 T 0.001 T Uncertain 20_29625938_C->G 20 29625938 29625938 C G snp 1070.77 0/1 99 247 197 50 0.2 ncRNA_exonic FRG1B AU 0.01 T 1 A Uncertain 20_29625946_A->G 20 29625946 29625946 A G snp 94.77 0/1 99 241 217 24 0.1 ncRNA_exonic rs80340867 FRG1B AU 0.0328 0.0290 0.68 T 0.998 D -1.096 T 0.003 T 0.046 T Uncertain 20_29625950_G->A 20 29625950 29625950 G A snp 36.77 0/1 65 237 214 23 0.1 ncRNA_exonic rs78096528 FRG1B AU 0.0327 0.0284 0.02 T 1.000 D -0.619 T 0.15 T 0.429 T Uncertain 20_29625965_G->A 20 29625965 29625965 G A snp 92.77 0/1 99 224 201 23 0.1 ncRNA_exonic rs79873624 FRG1B AU 0.0337 0.0314 1 T 1 A Uncertain 20_29625979_C->A 20 29625979 29625979 C A snp 753.77 0/1 99 210 175 35 0.17 ncRNA_exonic rs7272849 FRG1B AU 0.23 T 0.918 D -1.041 T 0.001 T 0.008 T Uncertain 20_29625984_T->C 20 29625984 29625984 T C snp 2654.77 0/1 99 203 112 91 0.45 ncRNA_exonic rs80066412 FRG1B AU Uncertain 20_29625985_G->C 20 29625985 29625985 G C snp 2673.77 0/1 99 202 93 109 0.54 ncRNA_splicing rs79368216 FRG1B AU 1 D Uncertain 20_29625997_A->T 20 29625997 29625997 A T snp 213.77 0/1 99 194 165 29 0.15 ncRNA_intronic rs62198355 FRG1B AU 0.5004 0.5001 Uncertain 20_29626013_T->C 20 29626013 29626013 T C snp 617.77 0/1 99 176 146 30 0.17 ncRNA_intronic rs76825953 FRG1B AU Uncertain 20_29626021_G->A 20 29626021 29626021 G A snp 675.77 0/1 99 166 135 31 0.19 ncRNA_intronic rs80220317 FRG1B AU Uncertain 20_29626025_A->C 20 29626025 29626025 A C snp 2108.77 0/1 99 160 88 72 0.45 ncRNA_intronic rs78789665 FRG1B AU Uncertain 20_29626027_C->T 20 29626027 29626027 C T snp 58.77 0/1 87 158 140 18 0.11 ncRNA_intronic rs2137756 FRG1B AU 0.5003 0.5 Uncertain 20_29626029_G->C 20 29626029 29626029 G C snp 2009.77 0/1 99 156 81 75 0.48 ncRNA_intronic rs75444714 FRG1B AU 0.0022 0.0050 Uncertain 20_29626055_A->G 20 29626055 29626055 A G snp 263.77 0/1 99 56 45 11 0.2 ncRNA_intronic rs74373385 FRG1B AU Uncertain 20_29628086_G->A 20 29628086 29628086 G A snp 69.77 0/1 98 47 38 9 0.19 ncRNA_intronic rs75172878 FRG1B AU Uncertain 20_29628099_G->C 20 29628099 29628099 G C snp 588.77 0/1 99 80 19 61 0.76 ncRNA_intronic rs73621498 FRG1B AU Uncertain 20_29628112_C->A 20 29628112 29628112 C A snp 2034.77 0/1 99 149 27 122 0.82 ncRNA_intronic rs73621499 FRG1B AU Uncertain 20_29628125_T->C 20 29628125 29628125 T C snp 53.77 0/1 82 250 222 28 0.11 ncRNA_intronic FRG1B AU Uncertain 20_29628128_C->T 20 29628128 29628128 C T snp 4571.77 0/1 99 248 29 219 0.88 ncRNA_intronic rs73621500 FRG1B AU Uncertain 20_29628136_T->G 20 29628136 29628136 T G snp 2334.77 0/1 99 249 127 122 0.49 ncRNA_intronic rs73621501 FRG1B AU Uncertain 20_29628158_G->A 20 29628158 29628158 G A snp 2515.77 0/1 99 249 134 115 0.46 ncRNA_intronic rs73605203 FRG1B AU Uncertain 20_29628164_G->A 20 29628164 29628164 G A snp 5138.77 0/1 99 249 30 219 0.88 ncRNA_intronic rs62199575 FRG1B AU Uncertain 20_29628173_G->A 20 29628173 29628173 G A snp 35.77 0/1 64 250 224 26 0.1 ncRNA_intronic FRG1B AU Uncertain 20_29628181_C->T 20 29628181 29628181 C T snp 1066.77 0/1 99 248 191 57 0.23 ncRNA_intronic rs371105330 FRG1B AU 0.0012 0.0024 Uncertain 20_29628185_A->G 20 29628185 29628185 A G snp 636.77 0/1 99 249 212 37 0.15 ncRNA_intronic rs76195463 FRG1B AU 0.0012 0.0006 Uncertain 20_29628271_C->T 20 29628271 29628271 C T snp 2621.77 0/1 99 250 125 125 0.5 ncRNA_exonic rs62199576 FRG1B AU 0.5000 0.5 Uncertain 20_29628335_A->T 20 29628335 29628335 A T snp 1663.77 0/1 99 250 161 89 0.36 ncRNA_splicing rs11152455 FRG1B AU 0.4982 0.4993 Uncertain 20_29628336_T->C 20 29628336 29628336 T C snp 122.77 0/1 99 249 220 29 0.12 ncRNA_splicing rs79254137 FRG1B AU 1.668e-05 0 Uncertain 20_29628341_C->A 20 29628341 29628341 C A snp 3697.77 0/1 99 250 59 191 0.76 ncRNA_intronic rs11152456 FRG1B AU 0.5001 0.5018 Uncertain 20_29628361_A->C 20 29628361 29628361 A C snp 3659.77 0/1 99 250 56 194 0.78 ncRNA_intronic rs11152457 FRG1B AU 0.4964 0.4996 Uncertain 20_29628374_G->A 20 29628374 29628374 G A snp 66.77 0/1 95 246 219 27 0.11 ncRNA_intronic rs77720423 FRG1B AU 0.0010 0.0003 Uncertain 20_29628415_T->A 20 29628415 29628415 T A snp 601.77 0/1 99 242 201 41 0.17 ncRNA_intronic rs79702103 FRG1B AU Uncertain 20_29628431_C->T 20 29628431 29628431 C T snp 4504.77 0/1 99 232 44 188 0.81 ncRNA_intronic rs11152458 FRG1B AU 0.5681 0.6041 Uncertain 20_29628439_A->G 20 29628439 29628439 A G snp 468.77 0/1 99 226 188 38 0.17 ncRNA_intronic rs78434176 FRG1B AU Uncertain 20_29628446_T->A 20 29628446 29628446 T A snp 140.77 0/1 99 219 196 23 0.11 ncRNA_intronic rs79092317 FRG1B AU Uncertain 20_29628469_C->G 20 29628469 29628469 C G snp 507.77 0/1 99 173 141 32 0.18 ncRNA_intronic rs79183986 FRG1B AU Uncertain 20_29628477_T->A 20 29628477 29628477 T A snp 1099.77 0/1 99 153 102 51 0.33 ncRNA_intronic rs62199577 FRG1B AU Uncertain 20_29628488_C->T 20 29628488 29628488 C T snp 824.77 0/1 99 138 101 37 0.27 ncRNA_intronic rs11152459 FRG1B AU Uncertain 20_29628498_A->C 20 29628498 29628498 A C snp 203.77 0/1 99 97 82 15 0.15 ncRNA_intronic rs62199578 FRG1B AU Uncertain 20_29628519_G->T 20 29628519 29628519 G T snp 36.77 0/1 65 54 47 7 0.13 ncRNA_intronic rs76426821 FRG1B AU Uncertain 20_29630510_C->G 20 29630510 29630510 C G snp 359.77 0/1 99 19 8 11 0.58 ncRNA_intronic rs112020163 FRG1B AU Uncertain 20_29630527_C->T 20 29630527 29630527 C T snp 644.77 0/1 99 47 27 20 0.43 ncRNA_intronic rs112850396 FRG1B AU Uncertain 20_29630566_G->T 20 29630566 29630566 G T snp 604.77 0/1 99 152 121 31 0.2 ncRNA_intronic FRG1B AU Uncertain 20_29630570_G->A 20 29630570 29630570 G A snp 692.77 0/1 99 166 134 32 0.19 ncRNA_intronic rs568819728 FRG1B AU 0.0800719 0.0694 Uncertain 20_29630571_C->T 20 29630571 29630571 C T snp 630.77 0/1 99 169 134 35 0.21 ncRNA_intronic FRG1B AU Uncertain 20_29630598_A->T 20 29630598 29630598 A T snp 1999.77 0/1 99 250 165 85 0.34 ncRNA_intronic rs3954426 FRG1B AU Uncertain 20_29630609_C->A 20 29630609 29630609 C A snp 2113.77 0/1 99 249 158 91 0.37 ncRNA_intronic rs73605237 FRG1B AU Uncertain 20_29630649_G->A 20 29630649 29630649 G A snp 1108.77 0/1 99 250 194 56 0.22 ncRNA_intronic rs202212672 FRG1B AU 9.024e-05 0 Uncertain 20_29630666_T->C 20 29630666 29630666 T C snp 2776.77 0/1 99 249 151 98 0.39 ncRNA_intronic rs74733909 FRG1B AU 0.0004 0 Uncertain 20_29630674_A->T 20 29630674 29630674 A T snp 2393.77 0/1 99 250 150 100 0.4 ncRNA_intronic rs74942717 FRG1B AU 0.2655 0.1587 Uncertain 20_29630681_G->A 20 29630681 29630681 G A snp 1039.77 0/1 99 249 158 91 0.37 ncRNA_intronic rs80344232 FRG1B AU 0.0007 0 Uncertain 20_29630695_C->A 20 29630695 29630695 C A snp 1326.77 0/1 99 250 194 56 0.22 ncRNA_intronic rs6087171 FRG1B AU 0.4137 0.4559 Uncertain 20_29630697_A->G 20 29630697 29630697 A G snp 3105.77 0/1 99 250 128 122 0.49 ncRNA_intronic rs73605239 FRG1B AU 0.0371 0.0156 Uncertain 20_29630725_T->C 20 29630725 29630725 T C snp 2791.77 0/1 99 250 131 119 0.48 ncRNA_intronic rs73605241 FRG1B AU 0.0036 0.0075 Uncertain 20_29630758_C->G 20 29630758 29630758 C G snp 284.77 0/1 99 238 190 48 0.2 ncRNA_intronic rs10084539 FRG1B AU Uncertain 20_29630760_T->C 20 29630760 29630760 T C snp 259.77 0/1 99 236 191 45 0.19 ncRNA_intronic rs137900323 FRG1B AU Uncertain 20_29630785_G->C 20 29630785 29630785 G C snp 1730.77 0/1 99 211 147 64 0.3 ncRNA_intronic rs79016539 FRG1B AU Uncertain 20_29630814_G->T 20 29630814 29630814 G T snp 1248.77 0/1 99 182 123 59 0.32 ncRNA_intronic rs77806419 FRG1B AU Uncertain 20_29630865_C->G 20 29630865 29630865 C G snp 164.77 0/1 99 65 56 9 0.14 ncRNA_intronic rs73605247 FRG1B AU Uncertain 20_29630866_G->A 20 29630866 29630866 G A snp 1467.77 0/1 99 61 15 46 0.75 ncRNA_intronic rs6057386 FRG1B AU Uncertain 20_29630884_G->T 20 29630884 29630884 G T snp 324.77 0/1 99 24 11 13 0.54 ncRNA_intronic rs62199588 FRG1B AU Uncertain 20_29632499_G->A 20 29632499 29632499 G A snp 91.8 0/1 21 9 1 8 0.89 ncRNA_intronic rs28523287 FRG1B AU Uncertain 20_29632505_C->T 20 29632505 29632505 C T snp 48.77 0/1 77 17 13 4 0.24 ncRNA_intronic FRG1B AU Uncertain 20_29632506_T->C 20 29632506 29632506 T C snp 36.77 0/1 65 19 14 5 0.26 ncRNA_intronic rs368759198 FRG1B AU Uncertain 20_29632520_A->- 20 29632520 29632520 A - indel 589.76 1/1 22 19 1 18 0.95 ncRNA_intronic rs76216438 FRG1B AU Uncertain 20_29632543_T->C 20 29632543 29632543 T C snp 608.77 0/1 99 84 53 31 0.37 ncRNA_intronic rs9647042 FRG1B AU Uncertain 20_29632562_G->A 20 29632562 29632562 G A snp 77.77 0/1 99 212 187 25 0.12 ncRNA_intronic rs73605274 FRG1B AU 0.0004 0.0007 Uncertain 20_29632564_G->A 20 29632564 29632564 G A snp 5172.77 1/1 99 231 6 225 0.97 ncRNA_intronic rs2379677 FRG1B AU 0.489816 0.2867 0.7460 0.7038 Uncertain 20_29632583_T->C 20 29632583 29632583 T C snp 171.77 0/1 99 247 222 25 0.1 ncRNA_intronic rs371743416 FRG1B AU Uncertain 20_29632593_A->G 20 29632593 29632593 A G snp 400.77 0/1 99 250 207 43 0.17 ncRNA_intronic rs112146379 FRG1B AU 0.4006 0.4025 Uncertain 20_29632632_A->G 20 29632632 29632632 A G snp 327.77 0/1 99 250 215 35 0.14 ncRNA_exonic rs73598387 FRG1B AU 0.000199681 0 0 Uncertain 20_29632635_C->G 20 29632635 29632635 C G snp 379.77 0/1 99 250 220 30 0.12 ncRNA_exonic rs375238322 FRG1B AU 0.11 T 0.982 D -0.944 T 0.893 T 0.6 P Uncertain 20_29632638_C->A 20 29632638 29632638 C A snp 731.77 0/1 99 250 212 38 0.15 ncRNA_exonic rs9647043 FRG1B AU 0.4992 0.4981 0.28 T 1.000 N -1.060 T 0.035 T 0.011 T Uncertain 20_29632660_G->T 20 29632660 29632660 G T snp 114.77 0/1 99 250 224 26 0.1 ncRNA_exonic FRG1B AU 0.04 T 1 A Uncertain 20_29632662_G->C 20 29632662 29632662 G C snp 4087.77 0/1 99 250 91 159 0.64 ncRNA_exonic rs1803594 FRG1B AU 0.00119808 0.0055 0.0038 1 T 1.000 N -1.008 T 0.0 T 0.0 T Uncertain 20_29632673_T->C 20 29632673 29632673 T C snp 328.77 0/1 99 248 222 26 0.1 ncRNA_exonic rs73598388 FRG1B AU 3.387e-05 0 0 D 1 D -0.474 T 1.0 D 0.998 D Uncertain 20_29632707_G->A 20 29632707 29632707 G A snp 1172.77 0/1 99 242 189 53 0.22 ncRNA_exonic rs6057187 FRG1B AU 0.0010 0.0004 Uncertain 20_29632709_C->T 20 29632709 29632709 C T snp 1695.77 0/1 99 237 170 67 0.28 ncRNA_exonic rs78816635 FRG1B AU 0.3035 0.2842 0.11 T 0.967 N -1.051 T 0.02 T 0.009 T Uncertain 20_29632714_C->A 20 29632714 29632714 C A snp 1855.77 0/1 99 235 166 69 0.29 ncRNA_exonic rs76788819 FRG1B AU 0.2886 0.2740 0 D 1.000 D -0.300 T 1.0 D 1.0 D Uncertain 20_29632715_T->G 20 29632715 29632715 T G snp 1779.77 0/1 99 235 166 69 0.29 ncRNA_exonic rs74765991 FRG1B AU 0.2925 0.2730 0 D 1.000 D -0.474 T 1.0 D 1.0 D Uncertain 20_29632719_C->T 20 29632719 29632719 C T snp 682.77 0/1 99 232 194 38 0.16 ncRNA_exonic rs747524520 FRG1B AU 8.495e-06 0 Uncertain 20_29632727_TATT->- 20 29632727 29632730 TATT - indel 6244.73 0/1 99 227 115 112 0.49 ncRNA_splicing rs138922778 FRG1B AU 0.2070 0.1948 Uncertain 20_29632749_A->G 20 29632749 29632749 A G snp 425.77 0/1 99 207 175 32 0.15 ncRNA_intronic rs144938385 FRG1B AU 2.571e-05 0 Uncertain 20_29632751_T->C 20 29632751 29632751 T C snp 222.77 0/1 99 205 185 20 0.1 ncRNA_intronic rs111700236 FRG1B AU Uncertain 20_29632759_G->A 20 29632759 29632759 G A snp 993.77 0/1 99 199 153 46 0.23 ncRNA_intronic rs73605275 FRG1B AU 5.982e-05 0 Uncertain 20_29632761_T->C 20 29632761 29632761 T C snp 6024.77 1/1 81 197 14 183 0.93 ncRNA_intronic rs6057390 FRG1B AU 0.5055 0.5162 Uncertain 20_29632827_T->C 20 29632827 29632827 T C snp 189.77 0/1 99 68 55 13 0.19 ncRNA_intronic rs75935841 FRG1B AU Uncertain 20_29632839_A->C 20 29632839 29632839 A C snp 90.77 0/1 99 31 26 5 0.16 ncRNA_intronic rs75725987 FRG1B AU Uncertain 20_29633749_A->G 20 29633749 29633749 A G snp 46.77 0/1 75 12 8 4 0.33 ncRNA_intronic rs75182223 FRG1B AU Uncertain 20_29633761_A->T 20 29633761 29633761 A T snp 163.77 0/1 99 19 11 8 0.42 ncRNA_intronic rs147786780 FRG1B AU Uncertain 20_29633770_T->A 20 29633770 29633770 T A snp 219.77 0/1 99 35 26 9 0.26 ncRNA_intronic rs200940843 FRG1B AU Uncertain 20_29633770_-->AA 20 29633770 29633770 - AA indel 1215.73 0/1 99 32 5 27 0.84 ncRNA_intronic rs73621653 FRG1B AU 0.203275 0.1687 Uncertain 20_29633779_G->A 20 29633779 29633779 G A snp 164.77 0/1 99 52 44 8 0.15 ncRNA_intronic rs59724285 FRG1B AU Uncertain 20_29633787_A->G 20 29633787 29633787 A G snp 726.77 0/1 99 63 38 25 0.4 ncRNA_intronic rs76004887 FRG1B AU Uncertain 20_29633794_C->A 20 29633794 29633794 C A snp 1892.77 0/1 87 74 9 65 0.88 ncRNA_intronic rs10084493 FRG1B AU Uncertain 20_29633804_C->T 20 29633804 29633804 C T snp 37.77 0/1 66 95 86 9 0.09 ncRNA_intronic FRG1B AU Uncertain 20_29633814_A->T 20 29633814 29633814 A T snp 763.77 0/1 99 137 97 40 0.29 ncRNA_intronic FRG1B AU Uncertain 20_29633816_G->A 20 29633816 29633816 G A snp 43.77 0/1 72 143 129 14 0.1 ncRNA_intronic rs763898107 FRG1B AU Uncertain 20_29633823_A->G 20 29633823 29633823 A G snp 620.77 0/1 99 166 131 35 0.21 ncRNA_intronic rs77782557 FRG1B AU Uncertain 20_29633850_G->C 20 29633850 29633850 G C snp 203.77 0/1 99 244 220 24 0.1 ncRNA_intronic rs2313265 FRG1B AU 0.0829 0.0818 Uncertain 20_29633861_A->T 20 29633861 29633861 A T snp 65.77 0/1 94 250 230 20 0.08 ncRNA_intronic rs80250025 FRG1B AU 0.3424 0.3734 Uncertain 20_29633887_G->A 20 29633887 29633887 G A snp 608.77 0/1 99 250 205 45 0.18 ncRNA_intronic rs2313264 FRG1B AU 0.0597 0.0817 Uncertain 20_29633894_C->A 20 29633894 29633894 C A snp 135.77 0/1 99 250 222 28 0.11 ncRNA_splicing rs76245589 FRG1B AU 0.1869 0.1554 Uncertain 20_29633900_A->G 20 29633900 29633900 A G snp 1259.77 0/1 99 250 186 64 0.26 ncRNA_exonic rs60081496 FRG1B AU 0.0027 0.0017 0 D 1.000 N -0.974 T Uncertain 20_29633915_C->T 20 29633915 29633915 C T snp 270.77 0/1 99 250 219 31 0.12 ncRNA_exonic rs78740969 FRG1B AU 0.0767 0.0679 Uncertain 20_29633916_G->A 20 29633916 29633916 G A snp 3009.77 ./1 99 250 73 177 0.71 ncRNA_exonic rs2554494 FRG1B AU 0.0366 0.0373 Uncertain 20_29633916_G->T 20 29633916 29633916 G T snp 3009.77 ./1 99 250 73 177 0.71 ncRNA_exonic rs2554494 FRG1B AU 0.4636 0.4630 Uncertain 20_29633927_C->A 20 29633927 29633927 C A snp 1662.77 0/1 99 250 176 74 0.3 ncRNA_exonic rs62196372 FRG1B AU 0.5002 0.5 0.4836 0.4808 Uncertain 20_29633929_A->G 20 29633929 29633929 A G snp 1728.77 0/1 99 250 170 80 0.32 ncRNA_exonic rs7509092 FRG1B AU 0.5002 0.5 0.4840 0.4813 Uncertain 20_29633938_A->G 20 29633938 29633938 A G snp 2857.77 0/1 99 250 127 123 0.49 ncRNA_exonic rs61041024 FRG1B AU 0.4351 0.4329 Uncertain 20_29633945_G->A 20 29633945 29633945 G A snp 31.77 0/1 60 250 228 22 0.09 ncRNA_exonic rs760662607 FRG1B AU 0.0760 0.0599 Uncertain 20_29633952_C->T 20 29633952 29633952 C T snp 1931.77 0/1 99 250 170 80 0.32 ncRNA_exonic rs62196374 FRG1B AU 0.4774 0.4829 Uncertain 20_29633967_TT->- 20 29633967 29633968 TT - indel 7331.73 ./1 99 227 17 210 0.93 ncRNA_exonic rs201513813 FRG1B AU Uncertain 20_29633967_TTT->- 20 29633967 29633969 TTT - indel 7331.73 ./1 99 227 17 210 0.93 ncRNA_exonic rs61684852 FRG1B AU Uncertain 20_29633986_A->C 20 29633986 29633986 A C snp 944.77 0/1 99 246 194 52 0.21 ncRNA_exonic rs2379676 FRG1B AU 0.486422 0.4683 Uncertain 20_29633987_T->A 20 29633987 29633987 T A snp 81.77 0/1 99 244 224 20 0.08 ncRNA_exonic rs4006817 FRG1B AU 0.148363 0.1984 Uncertain 20_29634037_G->A 20 29634037 29634037 G A snp 1806.77 0/1 99 203 127 76 0.37 downstream rs4006816 FRG1B AU Uncertain 20_29634043_C->G 20 29634043 29634043 C G snp 84.77 0/1 99 197 179 18 0.09 downstream FRG1B AU Uncertain 20_29634049_G->C 20 29634049 29634049 G C snp 1632.77 0/1 99 189 120 69 0.37 downstream rs2379675 FRG1B AU Uncertain 20_29634103_C->- 20 29634103 29634103 C - indel 699.73 0/1 56 52 3 49 0.94 downstream rs113531250 FRG1B AU 0.350439 0.3542 Uncertain 20_29634104_C->T 20 29634104 29634104 C T snp 623.79 0/1 22 31 3 28 0.9 downstream rs56780525 FRG1B AU 0.350439 0.3542 Uncertain 20_29634107_G->A 20 29634107 29634107 G A snp 592.81 0/1 20 30 2 28 0.93 downstream rs2379673 FRG1B AU 0.350439 0.3542 Uncertain 20_29651952_C->A 20 29651952 29651952 C A snp 219.88 0/1 16 8 1 7 0.88 intergenic rs62206778 MLLT10P1 AU Uncertain 20_29651966_G->A 20 29651966 29651966 G A snp 33.77 0/1 62 20 17 3 0.15 intergenic rs77621834 MLLT10P1 AU Uncertain 20_29651968_T->G 20 29651968 29651968 T G snp 321.77 0/1 99 21 11 10 0.48 intergenic rs62206779 MLLT10P1 AU Uncertain 20_29652000_T->C 20 29652000 29652000 T C snp 440.77 0/1 99 99 81 18 0.18 intergenic rs62206780 MLLT10P1 AU Uncertain 20_29652002_C->G 20 29652002 29652002 C G snp 104.77 0/1 99 102 92 10 0.1 intergenic rs73611948 MLLT10P1 AU Uncertain 20_29652010_C->T 20 29652010 29652010 C T snp 497.77 0/1 99 123 100 23 0.19 intergenic rs78663325 MLLT10P1 AU Uncertain 20_29652036_C->T 20 29652036 29652036 C T snp 3970.77 0/1 99 249 117 132 0.53 intergenic rs62206781 MLLT10P1 AU 0.000399361 Uncertain 20_29652065_A->G 20 29652065 29652065 A G snp 2128.77 0/1 99 238 164 74 0.31 intergenic rs73611950 MLLT10P1 AU Uncertain 20_29652083_C->T 20 29652083 29652083 C T snp 3098.77 0/1 99 250 149 101 0.4 intergenic rs66615221 MLLT10P1 AU 0.4782 0.4862 Uncertain 20_29652085_G->T 20 29652085 29652085 G T snp 236.77 0/1 99 250 225 25 0.1 intergenic MLLT10P1 AU Uncertain 20_29652090_G->A 20 29652090 29652090 G A snp 71.77 0/1 99 249 230 19 0.08 intergenic MLLT10P1 AU Uncertain 20_29652095_C->A 20 29652095 29652095 C A snp 814.77 0/1 99 250 210 40 0.16 intergenic rs73611951 MLLT10P1 AU 0.0007 0 Uncertain 20_29652099_G->T 20 29652099 29652099 G T snp 1312.77 0/1 99 250 200 50 0.2 intergenic rs74613177 MLLT10P1 AU 0.4685 0.4561 Uncertain 20_29652100_T->A 20 29652100 29652100 T A snp 122.77 0/1 99 250 228 22 0.09 intergenic MLLT10P1 AU Uncertain 20_29652102_C->A 20 29652102 29652102 C A snp 307.77 0/1 99 250 219 31 0.12 intergenic rs71264009 MLLT10P1 AU 0.0148 0.0392 Uncertain 20_29652105_T->C 20 29652105 29652105 T C snp 517.77 0/1 99 250 217 33 0.13 intergenic rs76299428 MLLT10P1 AU 0.3741 0.3189 Uncertain 20_29652107_T->G 20 29652107 29652107 T G snp 656.77 0/1 99 250 191 59 0.24 intergenic rs62206782 MLLT10P1 AU 0.4427 0.3628 Uncertain 20_29652109_T->G 20 29652109 29652109 T G snp 322.77 0/1 99 250 219 31 0.12 intergenic rs75815085 MLLT10P1 AU Uncertain 20_29652128_T->G 20 29652128 29652128 T G snp 91.77 0/1 99 250 228 22 0.09 intergenic rs142263517 MLLT10P1 AU Uncertain 20_29652165_C->T 20 29652165 29652165 C T snp 1362.77 0/1 99 245 189 56 0.23 intergenic rs62206783 MLLT10P1 AU 0.0317 0.05 Uncertain 20_29652166_G->A 20 29652166 29652166 G A snp 1232.77 0/1 99 249 198 51 0.2 intergenic rs79732696 MLLT10P1 AU 0.3848 0.3761 Uncertain 20_29652169_C->A 20 29652169 29652169 C A snp 420.77 0/1 99 250 221 29 0.12 intergenic rs376631284 MLLT10P1 AU 5.318e-05 0 Uncertain 20_29652172_T->C 20 29652172 29652172 T C snp 7353.77 0/1 99 250 30 220 0.88 intergenic rs78862124 MLLT10P1 AU 0.000798722 0.5239 0.5886 Uncertain 20_29652173_G->A 20 29652173 29652173 G A snp 2021.77 0/1 99 250 175 75 0.3 intergenic rs79057885 MLLT10P1 AU 0.000199681 0.4469 0.3041 Uncertain 20_29652182_C->T 20 29652182 29652182 C T snp 994.77 0/1 99 250 204 46 0.18 intergenic rs36076351 MLLT10P1 AU 0.0688 0.0479 Uncertain 20_29652183_G->A 20 29652183 29652183 G A snp 656.77 0/1 99 249 212 37 0.15 intergenic rs71276709 MLLT10P1 AU 0.4084 0.2754 Uncertain 20_29652191_C->T 20 29652191 29652191 C T snp 5701.77 0/1 99 250 75 175 0.7 intergenic rs62206784 MLLT10P1 AU 0.5156 0.5773 Uncertain 20_29652192_G->A 20 29652192 29652192 G A snp 654.77 0/1 99 250 213 37 0.15 intergenic rs370944544 MLLT10P1 AU Uncertain 20_29652194_C->T 20 29652194 29652194 C T snp 713.77 0/1 99 250 213 37 0.15 intergenic rs34913243 MLLT10P1 AU 0.0776 0.1357 Uncertain 20_29652196_T->C 20 29652196 29652196 T C snp 1139.77 0/1 99 250 200 50 0.2 intergenic rs62206785 MLLT10P1 AU 0.4501 0.4715 Uncertain 20_29652219_G->T 20 29652219 29652219 G T snp 639.77 0/1 99 238 195 43 0.18 intergenic rs73611952 MLLT10P1 AU Uncertain 20_29652231_A->G 20 29652231 29652231 A G snp 711.77 0/1 99 227 194 33 0.15 intergenic rs375687727 MLLT10P1 AU Uncertain 20_29652235_C->G 20 29652235 29652235 C G snp 559.77 0/1 99 222 190 32 0.14 intergenic rs79475704 MLLT10P1 AU 0.0455 0.0899 Uncertain 20_29652236_G->C 20 29652236 29652236 G C snp 6324.77 0/1 99 221 32 189 0.86 intergenic rs62206786 MLLT10P1 AU 0.5726 0.6717 Uncertain 20_29652249_C->T 20 29652249 29652249 C T snp 536.77 0/1 99 207 179 28 0.14 intergenic rs73611953 MLLT10P1 AU Uncertain 20_29652254_G->A 20 29652254 29652254 G A snp 1110.77 0/1 99 204 156 48 0.24 intergenic rs77357187 MLLT10P1 AU 0.4721 0.4375 Uncertain 20_29652294_C->A 20 29652294 29652294 C A snp 980.77 0/1 99 163 123 40 0.25 intergenic rs148337041 MLLT10P1 AU 0.3706 0.375 Uncertain 20_29652302_A->G 20 29652302 29652302 A G snp 164.77 0/1 99 142 127 15 0.11 intergenic rs74429828 MLLT10P1 AU 0.000399361 0.0434 0.0638 Uncertain 20_29652303_T->C 20 29652303 29652303 T C snp 3506.77 0/1 99 125 16 109 0.87 intergenic rs62206787 MLLT10P1 AU 0.5960 0.5848 Uncertain 20_29652344_G->A 20 29652344 29652344 G A snp 516.77 0/1 33 20 2 18 0.9 intergenic rs62206788 MLLT10P1 AU Uncertain 20_29847211_T->C 20 29847211 29847211 T C snp 190.9 1/1 15 9 0 9 1.0 intronic rs6088879 DEFB115 AU NM_001037730 exon2 c.1796-51T>C 0.497604 0.755 0.416346 Uncertain 20_29847618_C->T 20 29847618 29847618 C T snp 254.8 1/1 21 7 0 7 1.0 downstream rs6088901 DEFB115 AU 0.497804 0.755 Uncertain 20_29896112_T->A 20 29896112 29896112 T A snp 141.03 1/1 12 5 0 5 1.0 intronic rs6061178 DEFB116 AU NM_001037731 exon2 c.5307-209T>A 0.803115 0.7569 Uncertain 20_29961050_C->T 20 29961050 29961050 C T snp 757.77 0/1 99 74 42 32 0.43 UTR3 rs569243788 DEFB118 AU 0.00159744 0.0079 Uncertain 20_29965014_T->C 20 29965014 29965014 T C snp 780.77 1/1 60 24 0 24 1.0 UTR3 rs709045 DEFB119 AU 0.494808 0.755 0.405274 0.5326 0.7445 Uncertain 20_29966275_G->A 20 29966275 29966275 G A snp 2071.77 1/1 99 77 0 77 1.0 intronic rs2223527 DEFB119 AU NM_153289 exon1 c.194+1033G>A 0.71865 0.756 0.756899 Uncertain 20_29966362_A->C 20 29966362 29966362 A C snp 492.77 1/1 39 14 0 14 1.0 intronic rs2206383 DEFB119 AU NM_153289 exon1 c.194+1120A>C 0.830471 0.7569 Uncertain 20_29977156_G->A 20 29977156 29977156 G A snp 981.77 1/1 72 31 0 31 1.0 intronic rs2295500 DEFB119 AU NM_153323 exon1 c.206+123G>A 0.493211 0.754 Uncertain 20_29978216_T->C 20 29978216 29978216 T C snp 1242.77 1/1 87 50 0 50 1.0 intronic rs2206381 DEFB119 AU NM_153289 exon2 c.13177-9T>C 0.824681 0.7579 0.845994 0.8140 0.7484 Uncertain 20_30037783_C->T 20 30037783 30037783 C T snp 4455.77 1/1 99 162 1 161 0.99 intronic rs2273468 DEFB123 AU NM_153324 exon2 c.9330-48C>T 0.488618 0.7351 0.404813 0.5262 0.7215 Uncertain 20_30452782_C->T 20 30452782 30452782 C T snp 1689.77 0/1 99 118 51 67 0.57 exonic rs4911536 DUSP15 AU synonymous SNV NM_080611 exon4 c.G162A p.P54P 0.284944 0.372 0.254037 0.3123 0.3822 0 D 1.000 P -0.954 T Likely benign 20_30513735_C->T 20 30513735 30513735 C T snp 2595.77 0/1 99 248 145 103 0.42 intronic rs4911195 TTLL9 AU NM_001008409 exon10 c.54922-116C>T 0.175319 0.2996 0.2324 0.4141 Uncertain 20_30661297_G->A 20 30661297 30661297 G A snp 2046.77 1/1 99 71 0 71 1.0 intronic rs2297304 HCK AU NM_001172132 exon4 c.19082+133G>A 0.64976 0.9147 Uncertain 20_30667690_G->A 20 30667690 30667690 G A snp 4523.77 1/1 99 161 0 161 1.0 intronic rs3746603 HCK AU NM_001172132 exon7 c.25598+10G>A 0.0501198 0.1895 0.004306 0.0319 0.2135 Uncertain 20_30674618_G->A 20 30674618 30674618 G A snp 1354.77 1/1 96 47 0 47 1.0 intronic rs910185 HCK AU NM_001172132 exon10 c.32528+8G>A 0.101837 0.1815 0.050438 0.0448 0.1936 Uncertain 20_30681543_A->G 20 30681543 30681543 A G snp 268.78 1/1 24 8 0 8 1.0 intronic rs980368 HCK AU NM_001172132 exon12 c.39583-122A>G 0.49401 0.2808 Uncertain 20_30681999_T->C 20 30681999 30681999 T C snp 555.74 1/1 6 18 1 17 0.94 intronic rs6121337 HCK AU NM_001172132 exon12 c.39737+180T>C 0.487819 0.2808 Uncertain 20_30686911_G->A 20 30686911 30686911 G A snp 2882.77 0/1 99 216 94 122 0.56 exonic rs557160696 HCK AU nonsynonymous SNV NM_002110 exon12 c.G1351A p.V451I 0.000199681 8.245e-06 0 0.33 T 0.901 D -0.704 T 0.016 T 0.035 T Pathogenic 20_30746248_T->C 20 30746248 30746248 T C snp 2427.77 1/1 99 96 0 96 1.0 splicing rs6061195 TM9SF4 AU NM_014742 exon15 c.48710-5T>C 0.741014 0.9742 0.659157 0.6456 0.9812 Pathogenic 20_30753270_T->C 20 30753270 30753270 T C snp 2869.77 1/1 99 99 0 99 1.0 UTR3 rs14316 TM9SF4 AU 0.761581 0.994 0.673458 0.6531 0.9954 Uncertain 20_30777336_G->T 20 30777336 30777336 G T snp 4250.77 1/1 99 147 0 147 1.0 ncRNA_exonic rs3813922 TSPY26P AU 0.215256 0.253 0.1217 0.2124 Uncertain 20_30777800_T->C 20 30777800 30777800 T C snp 1484.77 1/1 99 56 0 56 1.0 ncRNA_exonic rs11907716 TSPY26P AU 0.764577 0.994 0.5361 0.9868 Uncertain 20_30777860_A->G 20 30777860 30777860 A G snp 870.77 1/1 63 31 0 31 1.0 ncRNA_exonic rs11907235 TSPY26P AU 0.764776 0.994 0.5641 0.9949 Uncertain 20_30785593_A->T 20 30785593 30785593 A T snp 385.77 1/1 30 10 0 10 1.0 intronic rs6121381 PLAGL2 AU NM_002657 exon1 c.1231+108A>T 0.235024 0.252 Uncertain 20_30795819_T->C 20 30795819 30795819 T C snp 3166.77 1/1 99 111 0 111 1.0 exonic rs1923095 POFUT1 AD synonymous SNV NM_015352 exon1 c.T75C p.P25P 0.764577 0.994 0.668916 0.6765 0.9951 Uncertain 20_30819042_T->C 20 30819042 30819042 T C snp 44.74 1/1 6 2 0 2 1.0 intronic rs3818219 POFUT1 AD NM_015352 exon6 c.23120+178T>C 0.235224 0.255 Uncertain 20_30915461_T->C 20 30915461 30915461 T C snp 2829.77 1/1 99 114 0 114 1.0 exonic rs1129012 KIF3B AU synonymous SNV NM_004798 exon7 c.T1965C p.Y655Y 0.201877 0.2222 0.216592 0.1692 0.1966 Uncertain 20_30919183_A->G 20 30919183 30919183 A G snp 634.77 1/1 48 21 0 21 1.0 UTR3 rs1029116 KIF3B AU 0.285743 0.251 Uncertain 20_31022410_G->A 20 31022410 31022410 G A snp 1987.77 0/1 99 148 69 79 0.53 exonic ASXL1 AU,AD nonsynonymous SNV NM_015338 exon12 c.G1895A p.C632Y 0.03 T 0.549 D -0.782 T 0.995 D 0.908 D Pathogenic 20_31022959_T->C 20 31022959 31022959 T C snp 3116.77 1/1 99 112 0 112 1.0 exonic rs6058694 ASXL1 AU,AD nonsynonymous SNV NM_015338 exon12 c.T2444C p.L815P 1 1 0.999923 1.0000 1 0.76 T 0.0 P -1.031 T 0.0 T 0.0 T CLINSIG=untested;CLNDBN=not_specified;CLNREVSTAT=no_assertion_provided;CLNACC=RCV000120112.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 20_31035129_A->G 20 31035129 31035129 A G snp 3636.77 1/1 99 140 0 140 1.0 UTR3 rs1737887 NOL4L AU 0.234425 0.2639 0.1332 0.2087 0.25 T 0.0 P -0.972 T Uncertain 20_31035726_-->GTT 20 31035726 31035726 - GTT indel 254.87 1/1 15 7 0 7 1.0 intronic rs144443155 NOL4L AU NM_080616 exon1 c.221+107insGTT 0.249002 0.2857 Uncertain 20_31074372_G->A 20 31074372 31074372 G A snp 1691.77 1/1 99 67 1 66 0.99 intronic rs6141734 NOL4L AU NM_080616 exon8 c.35987+2987G>A 0.433706 0.8403 Uncertain 20_31097860_A->G 20 31097860 31097860 A G snp 34.77 0/1 63 5 3 2 0.4 ncRNA_exonic rs293565 LOC101929698 AU 0.163938 0.1756 Uncertain 20_31097877_T->C 20 31097877 31097877 T C snp 96.28 1/1 9 3 0 3 1.0 ncRNA_exonic rs293566 LOC101929698 AU 0.661542 0.9891 Uncertain 20_31099311_T->C 20 31099311 31099311 T C snp 1149.77 1/1 81 45 0 45 1.0 ncRNA_intronic rs159428 LOC101929698 AU 0.770168 0.994 Uncertain 20_31108805_T->A 20 31108805 31108805 T A snp 759.77 0/1 99 77 42 35 0.45 intronic rs6141745 NOL4L AU NM_001256798 exon9 c.73327+80T>A 0.356629 0.7808 Uncertain 20_31108932_G->T 20 31108932 31108932 G T snp 41.77 0/1 70 4 2 2 0.5 intronic rs910890 NOL4L AU NM_001256798 exon9 c.73327+207G>T 0.408147 0.7808 Uncertain 20_31291161_C->T 20 31291161 31291161 C T snp 579.77 0/1 99 44 20 24 0.55 UTR3 rs9421 COMMD7 AU 0.59385 0.4772 0.716533 0.6720 0.4646 Uncertain 20_31292299_A->- 20 31292299 31292299 A - indel 102.73 0/1 99 18 8 10 0.56 intronic rs59379723 COMMD7 AU NM_053041 exon3 c.1108+8delA 0.564297 0.4365 0.3577 0.2163 Uncertain 20_31294655_A->G 20 31294655 31294655 A G snp 37.77 0/1 66 11 8 3 0.27 intronic rs28548540 COMMD7 AU NM_053041 exon6 c.3379+93A>G 0.58766 0.4841 Uncertain 20_31315862_G->A 20 31315862 31315862 G A snp 1600.77 0/1 99 124 53 71 0.57 intronic rs2064936 COMMD7 AU NM_053041 exon8 c.24712-33G>A 0.215455 0.3998 0.154385 0.1820 0.4158 Uncertain 20_31315867_C->T 20 31315867 31315867 C T snp 1531.77 0/1 99 126 56 70 0.56 intronic rs2064937 COMMD7 AU NM_053041 exon8 c.24712-28C>T 0.233227 0.3998 0.175125 0.1879 0.4159 Uncertain 20_31331330_A->G 20 31331330 31331330 A G snp 135.03 1/1 12 5 0 5 1.0 UTR5 rs4911106 COMMD7 AU 0.714257 0.9206 Uncertain 20_31369137_C->- 20 31369137 31369137 C - indel 2571.73 1/1 99 58 0 58 1.0 intronic rs3835238 DNMT3B AR NM_175849 exon3 c.1029-21delC 0.619409 0.9216 0.435703 0.5074 0.9219 Uncertain 20_31374259_C->T 20 31374259 31374259 C T snp 3895.77 1/1 99 138 0 138 1.0 intronic rs2424913 DNMT3B AR NM_175849 exon5 c.6178-48C>T 0.688099 0.9931 0.508001 0.5576 0.9973 ID=CS025464;DIS=Lung cancer, increased risk, association with;TAG=DP;PUB=12208751 DP Uncertain 20_31374520_A->G 20 31374520 31374520 A G snp 4062.77 1/1 99 150 4 146 0.97 intronic rs2424914 DNMT3B AR NM_175849 exon5 c.6304+87A>G 0.767173 0.9931 Uncertain 20_31374991_G->A 20 31374991 31374991 G A snp 3178.77 1/1 99 99 0 99 1.0 intronic rs4911107 DNMT3B AR NM_175849 exon6 c.6906-44G>A 0.617612 0.9216 0.434722 0.5075 0.9211 Uncertain 20_31375311_A->G 20 31375311 31375311 A G snp 349.78 1/1 27 9 0 9 1.0 intronic rs4911108 DNMT3B AR NM_175849 exon6 c.7128+54A>G 0.55631 0.9177 Uncertain 20_31376490_T->C 20 31376490 31376490 T C snp 185.9 1/1 15 6 0 6 1.0 intronic rs4911260 DNMT3B AR NM_175849 exon7 c.8530-169T>C 0.753994 0.9931 Uncertain 20_31379184_C->A 20 31379184 31379184 C A snp 507.77 1/1 39 13 0 13 1.0 intronic rs2889703 DNMT3B AR NM_175849 exon8 c.11277-222C>A 0.647963 0.9931 Uncertain 20_31380309_G->A 20 31380309 31380309 G A snp 600.77 1/1 45 15 0 15 1.0 intronic rs1474738 DNMT3B AR NM_175849 exon9 c.12302-122G>A 0.502995 0.9177 Uncertain 20_31381229_G->A 20 31381229 31381229 G A snp 376.77 1/1 30 11 0 11 1.0 intronic rs993419 DNMT3B AR NM_006892 exon10 c.13212-112G>A 0.658347 0.9931 Uncertain 20_31383353_T->G 20 31383353 31383353 T G snp 3695.77 1/1 99 138 1 137 0.99 intronic rs910085 DNMT3B AR NM_175849 exon10 c.15211+13T>G 0.584864 0.9177 0.402891 0.4836 0.9210 Uncertain 20_31383530_C->T 20 31383530 31383530 C T snp 1037.77 1/1 75 35 0 35 1.0 intronic rs875041 DNMT3B AR NM_175849 exon11 c.15371+30C>T 0.658546 0.9177 0.480624 0.5069 0.9208 Uncertain 20_31386347_T->C 20 31386347 31386347 T C snp 4090.77 1/1 99 155 0 155 1.0 exonic rs6058891 DNMT3B AR synonymous SNV NM_006892 exon15 c.T1572C p.C524C 0.755791 0.9931 0.579117 0.5806 0.9973 Uncertain 20_31386449_T->C 20 31386449 31386449 T C snp 3425.77 1/1 99 125 0 125 1.0 exonic rs2424922 DNMT3B AR synonymous SNV NM_006892 exon15 c.T1674C p.Y558Y 0.755791 0.9931 0.577733 0.5792 0.9973 Uncertain 20_31387954_C->G 20 31387954 31387954 C G snp 1949.77 1/1 99 67 0 67 1.0 splicing rs1997797 DNMT3B AR NM_175849 exon16 c.19829-4C>G 0.714058 0.9931 0.533984 0.5663 0.9973 Pathogenic 20_31388461_C->T 20 31388461 31388461 C T snp 343.78 1/1 27 9 0 9 1.0 intronic rs6058892 DNMT3B AR NM_175849 exon17 c.20511-179C>T 0.717452 0.9931 Uncertain 20_31388636_T->C 20 31388636 31388636 T C snp 3428.77 1/1 99 129 0 129 1.0 splicing rs2424928 DNMT3B AR NM_175849 exon17 c.20511-4T>C 0.742612 0.9931 0.562125 0.5737 0.9973 Pathogenic 20_31389009_C->T 20 31389009 31389009 C T snp 1275.77 1/1 93 41 0 41 1.0 intronic rs2065576 DNMT3B AR NM_175849 exon18 c.20954-74C>T 0.742612 0.9931 Uncertain 20_31446645_A->G 20 31446645 31446645 A G snp 1285.77 1/1 93 44 0 44 1.0 intergenic rs853853 MAPRE1 AU 0.809704 0.994 Uncertain 20_31473180_A->G 20 31473180 31473180 A G snp 263.8 1/1 21 8 0 8 1.0 intergenic rs4911271 MAPRE1 AU 0.511581 0.6935 Uncertain 20_31473182_G->T 20 31473182 31473182 G T snp 263.8 1/1 21 8 0 8 1.0 intergenic rs4911272 MAPRE1 AU 0.473043 0.6935 Uncertain 20_31480936_C->T 20 31480936 31480936 C T snp 1503.77 0/1 99 113 50 63 0.56 intergenic rs62208906 MAPRE1 AU 0.164337 0.2133 0.161191 0.1757 0.2219 Uncertain 20_31480961_C->T 20 31480961 31480961 C T snp 1921.77 0/1 99 150 66 84 0.56 intergenic rs2377734 MAPRE1 AU 0.489018 0.3026 0.633815 0.6186 0.2987 Uncertain 20_31486206_A->G 20 31486206 31486206 A G snp 90.77 0/1 99 22 18 4 0.18 intergenic rs6058948 MAPRE1 AU 0.525559 0.2946 Uncertain 20_31494382_G->A 20 31494382 31494382 G A snp 697.77 0/1 99 72 43 29 0.4 intergenic rs6120033 MAPRE1 AU 0.595647 0.381 0.715068 0.6437 0.3633 0.998 P -1.020 T Uncertain 20_31494915_G->C 20 31494915 31494915 G C snp 600.77 0/1 99 64 40 24 0.38 intergenic rs57106662 MAPRE1 AU 0.155551 0.2034 Uncertain 20_31496039_C->T 20 31496039 31496039 C T snp 1075.77 0/1 99 100 54 46 0.46 intergenic MAPRE1 AU Uncertain 20_31505292_C->T 20 31505292 31505292 C T snp 3086.77 0/1 99 249 128 121 0.49 intergenic rs13037781 MAPRE1 AU 0.514976 0.2262 0.643233 0.6030 0.1944 Uncertain 20_31507762_C->G 20 31507762 31507762 C G snp 108.77 0/1 99 9 4 5 0.56 intergenic rs1936309 MAPRE1 AU 0.554113 0.2381 Uncertain 20_31518552_C->G 20 31518552 31518552 C G snp 267.77 0/1 54 10 2 8 0.8 intergenic rs13041716 MAPRE1 AU 0.569688 0.2192 Uncertain 20_31573528_A->C 20 31573528 31573528 A C snp 492.77 0/1 99 53 32 21 0.4 intronic rs2274343 SUN5 AR NM_080675 exon3 c.1942-13A>C 0.575679 0.2242 0.701676 0.6139 0.1879 Uncertain 20_31577394_G->A 20 31577394 31577394 G A snp 1363.77 0/1 99 94 36 58 0.62 intronic rs6058991 SUN5 AR NM_080675 exon5 c.5826-31G>A 0.44988 0.7778 0.3955 0.8150 Uncertain 20_31577572_C->T 20 31577572 31577572 C T snp 1423.77 0/1 99 84 30 54 0.64 intronic rs6088057 SUN5 AR NM_080675 exon5 c.5905+68C>T 0.449681 0.7778 Uncertain 20_31577583_AG->- 20 31577583 31577584 AG - indel 2237.73 0/1 99 71 23 48 0.68 intronic rs141745544 SUN5 AR NM_080675 exon5 c.5905+79_5905+80delAG 0.449681 0.7778 Uncertain 20_31583384_A->G 20 31583384 31583384 A G snp 1223.77 0/1 99 112 57 55 0.49 intronic rs2070310 SUN5 AR NM_080675 exon6 c.11825-40A>G 0.45028 0.7758 0.313394 0.3950 0.8153 Uncertain 20_31583966_T->G 20 31583966 31583966 T G snp 114.77 0/1 99 9 5 4 0.44 intronic rs2070311 SUN5 AR NM_080675 exon7 c.12530-163T>G 0.450679 0.7758 Uncertain 20_31584178_G->A 20 31584178 31584178 G A snp 572.77 0/1 99 68 43 25 0.37 intronic rs6141862 SUN5 AR NM_080675 exon7 c.12565+14G>A 0.42472 0.7758 0.295710 0.3867 0.8141 Uncertain 20_31585292_A->G 20 31585292 31585292 A G snp 39.74 1/1 6 2 0 2 1.0 intronic rs221975 SUN5 AR NM_080675 exon8 c.13844-151A>G 0.723642 0.9752 Uncertain 20_31585351_C->G 20 31585351 31585351 C G snp 365.77 0/1 99 23 10 13 0.57 intronic rs452299 SUN5 AR NM_080675 exon8 c.13844-92C>G 0.560703 0.8313 Uncertain 20_31585415_T->C 20 31585415 31585415 T C snp 1040.77 0/1 99 86 42 44 0.51 intronic rs190097 SUN5 AR NM_080675 exon8 c.13844-28T>C 0.45008 0.7758 0.322697 0.3958 0.8152 Uncertain 20_31585432_G->T 20 31585432 31585432 G T snp 916.77 0/1 99 102 56 46 0.45 intronic rs41312288 SUN5 AR NM_080675 exon8 c.13844-11G>T 0.161741 0.1438 0.162233 0.1372 0.1152 Uncertain 20_31585545_C->T 20 31585545 31585545 C T snp 1512.77 0/1 99 117 48 69 0.59 intronic rs440139 SUN5 AR NM_080675 exon8 c.13894+52C>T 0.45008 0.7758 0.316007 0.3958 0.8141 Uncertain 20_31587752_G->C 20 31587752 31587752 G C snp 1191.77 0/1 99 110 57 53 0.48 intronic rs414191 SUN5 AR NM_080675 exon9 c.16280-127G>C 0.448482 0.7698 0.4653 0.8103 0 D 0.000 P -1.029 T Uncertain 20_31587793_A->G 20 31587793 31587793 A G snp 3729.77 1/1 99 140 0 140 1.0 intronic rs15850 SUN5 AR NM_080675 exon9 c.16280-86A>G 0.621206 0.9127 0.6021 0.9157 0 D 0.0 P -1.069 T Uncertain 20_31588026_G->A 20 31588026 31588026 G A snp 77.77 0/1 99 7 3 4 0.57 intronic rs17123973 SUN5 AR NM_080675 exon9 c.16342+85G>A 0.0830671 0.1438 Uncertain 20_31589239_T->G 20 31589239 31589239 T G snp 83.77 0/1 69 5 2 3 0.6 intronic rs192156394 SUN5 AR NM_080675 exon10 c.17485+155T>G 0.00199681 0.0099 Uncertain 20_31609433_T->C 20 31609433 31609433 T C snp 545.77 0/1 99 48 26 22 0.46 intronic rs13043556 BPIFB2 AU NM_025227 exon15 c.13148-95T>C 0.438498 0.2361 Uncertain 20_31609581_C->T 20 31609581 31609581 C T snp 1750.77 0/1 99 173 96 77 0.45 exonic rs17124003 BPIFB2 AU synonymous SNV NM_025227 exon15 c.C1311T p.V437V 0.320288 0.1964 0.337767 0.2890 0.1724 Uncertain 20_31619357_C->T 20 31619357 31619357 C T snp 192.77 0/1 99 10 4 6 0.6 upstream rs4911286 BPIFB6 AU 0.501797 0.7232 Uncertain 20_31619578_A->G 20 31619578 31619578 A G snp 1836.77 0/1 99 170 87 83 0.49 intronic rs6059027 BPIFB6 AU NM_174897 exon1 c.97+28A>G 0.679912 0.7738 0.599769 0.5600 0.8245 Uncertain 20_31619724_A->T 20 31619724 31619724 A T snp 361.77 0/1 99 30 17 13 0.43 intronic rs2070312 BPIFB6 AU NM_174897 exon1 c.97+174A>T 0.45627 0.7232 Uncertain 20_31621564_C->T 20 31621564 31621564 C T snp 561.77 0/1 99 44 19 25 0.57 intronic rs2070315 BPIFB6 AU NM_174897 exon3 c.2538-427C>T 0.504193 0.7381 Uncertain 20_31621583_G->A 20 31621583 31621583 G A snp 368.77 0/1 99 30 14 16 0.53 intronic rs2070316 BPIFB6 AU NM_174897 exon3 c.2538-408G>A 0.577276 0.7738 Uncertain 20_31622083_G->A 20 31622083 31622083 G A snp 798.77 0/1 99 68 32 36 0.53 exonic rs2070317 BPIFB6 AU nonsynonymous SNV NM_174897 exon3 c.G289A p.V97I 0.569089 0.7579 0.488313 0.5157 0.8102 0.8 T 0.000 P -1.039 T 0.001 T 0.001 T Pathogenic 20_31622768_C->A 20 31622768 31622768 C A snp 2799.77 0/1 99 250 139 111 0.44 intronic rs6059032 BPIFB6 AU NM_174897 exon4 c.3265+50C>A 0.507987 0.7222 0.385745 0.4225 0.7667 Uncertain 20_31622839_T->C 20 31622839 31622839 T C snp 2542.77 0/1 99 250 152 98 0.39 intronic rs6059033 BPIFB6 AU NM_174897 exon5 c.3433-47T>C 0.438567 0.4370 0.7751 Uncertain 20_31624368_C->T 20 31624368 31624368 C T snp 2151.77 0/1 99 177 82 95 0.54 intronic rs6059035 BPIFB6 AU NM_174897 exon7 c.4889+26C>T 0.508986 0.7232 0.386514 0.4222 0.7685 Uncertain 20_31626558_G->C 20 31626558 31626558 G C snp 711.77 0/1 99 45 18 27 0.6 intronic rs6088078 BPIFB6 AU NM_174897 exon9 c.7261-156G>C 0.565695 0.7411 Uncertain 20_31626621_C->T 20 31626621 31626621 C T snp 1758.77 0/1 99 126 56 70 0.56 intronic rs6057708 BPIFB6 AU NM_174897 exon9 c.7261-93C>T 0.5627 0.7252 Uncertain 20_31627291_A->G 20 31627291 31627291 A G snp 537.77 0/1 99 52 27 25 0.48 exonic rs4911287 BPIFB6 AU nonsynonymous SNV NM_174897 exon10 c.A1039G p.S347G 0.60643 0.7421 0.484699 0.4506 0.7860 0.67 T 0.0 P -1.068 T 0.0 T 0.0 T Pathogenic 20_31629911_G->A 20 31629911 31629911 G A snp 883.77 0/1 99 82 47 35 0.43 intronic rs2070319 BPIFB6 AU NM_174897 exon12 c.10368+90G>A 0.501997 0.7232 Uncertain 20_31643511_A->G 20 31643511 31643511 A G snp 106.77 0/1 99 13 8 5 0.38 intronic rs384430 BPIFB3 AU NM_182658 exon1 c.124+158A>G 0.662939 0.7808 Uncertain 20_31644520_T->C 20 31644520 31644520 T C snp 217.77 0/1 99 29 19 10 0.34 intronic rs408538 BPIFB3 AU NM_182658 exon2 c.1275+16T>C 0.65655 0.7798 0.587498 0.5488 0.8343 Uncertain 20_31647126_C->T 20 31647126 31647126 C T snp 423.03 1/1 12 17 1 16 0.94 intronic rs6088082 BPIFB3 AU NM_182658 exon3 c.3954-57C>T 0.392572 0.4524 Uncertain 20_31647864_C->A 20 31647864 31647864 C A snp 5195.77 1/1 99 191 0 191 1.0 intronic rs6088084 BPIFB3 AU NM_182658 exon4 c.4608+27C>A 0.48123 0.7579 0.344149 0.4198 0.8057 Uncertain 20_31647935_G->T 20 31647935 31647935 G T snp 2636.77 1/1 99 86 0 86 1.0 intronic rs2424936 BPIFB3 AU NM_182658 exon4 c.4608+98G>T 0.618211 0.8036 Uncertain 20_31651583_A->G 20 31651583 31651583 A G snp 141.03 1/1 12 5 0 5 1.0 intronic rs403461 BPIFB3 AU NM_182658 exon6 c.8252+102A>G 0.856829 0.9772 Uncertain 20_31652292_G->A 20 31652292 31652292 G A snp 6256.77 1/1 99 232 1 231 1.0 exonic rs4911290 BPIFB3 AU nonsynonymous SNV NM_182658 exon7 c.G682A p.V228M 0.490016 0.756 0.352760 0.4225 0.8053 0 D 0.002 P -1.117 T 0.472 P 0.181 P Pathogenic 20_31656632_C->G 20 31656632 31656632 C G snp 6920.77 1/1 99 249 0 249 1.0 exonic rs6057717 BPIFB3 AU nonsynonymous SNV NM_182658 exon10 c.C1002G p.H334Q 0.482029 0.7698 0.340689 0.4197 0.8134 0.58 T 0.000 P -1.005 T 0.155 T 0.107 T Pathogenic 20_31656837_G->A 20 31656837 31656837 G A snp 1121.77 1/1 84 38 0 38 1.0 intronic rs2424938 BPIFB3 AU NM_182658 exon10 c.13550+58G>A 0.842851 0.9742 Uncertain 20_31660399_C->A 20 31660399 31660399 C A snp 676.77 0/1 99 46 21 25 0.54 intronic rs80093573 BPIFB3 AU NM_182658 exon14 c.17293-123C>A 0.0107827 0.0476 Uncertain 20_31673846_A->G 20 31673846 31673846 A G snp 4497.77 1/1 99 171 0 171 1.0 exonic rs2070325 BPIFB4 AU nonsynonymous SNV NM_182519 exon5 c.A802G p.I268V 0.465455 0.7569 0.329463 0.4094 0.7966 0.15 T 0.543 P -1.175 T 0.677 T 0.42 P Pathogenic 20_31676622_G->T 20 31676622 31676622 G T snp 1558.77 1/1 99 42 0 42 1.0 intronic rs2424949 BPIFB4 AU NM_182519 exon6 c.7439-149G>T 0.614617 0.7996 Uncertain 20_31676804_A->C 20 31676804 31676804 A C snp 6420.77 1/1 99 229 0 229 1.0 exonic rs2889732 BPIFB4 AU nonsynonymous SNV NM_182519 exon6 c.A959C p.N320T 0.551518 0.753 0.421344 0.4388 0.7952 0.29 T 0.563 P -1.248 T 0.979 D 0.675 D Pathogenic 20_31677429_G->A 20 31677429 31677429 G A snp 526.77 0/1 99 63 39 24 0.38 intronic rs77236562 BPIFB4 AU NM_182519 exon7 c.8032+65G>A 0.0263578 0.119 Uncertain 20_31677474_A->G 20 31677474 31677474 A G snp 768.77 1/1 57 21 0 21 1.0 intronic rs7271727 BPIFB4 AU NM_182519 exon7 c.8032+110A>G 0.422923 0.753 Uncertain 20_31677476_T->C 20 31677476 31677476 T C snp 760.77 1/1 57 21 0 21 1.0 intronic rs6057722 BPIFB4 AU NM_182519 exon7 c.8032+112T>C 0.766773 0.9395 Uncertain 20_31678773_G->A 20 31678773 31678773 G A snp 90.28 1/1 9 3 0 3 1.0 intronic rs6059075 BPIFB4 AU NM_182519 exon8 c.9273+168G>A 0.847843 0.9583 Uncertain 20_31680288_G->A 20 31680288 31680288 G A snp 1115.77 0/1 99 109 61 48 0.44 exonic rs139946022 BPIFB4 AU nonsynonymous SNV NM_182519 exon9 c.G1168A p.G390R 0.00539137 0.0208 0.000384 0.0042 0.0240 0.3 T 1 N -0.754 T 0.747 T 0.34 P Pathogenic 20_31811551_C->T 20 31811551 31811551 C T snp 639.77 0/1 99 53 27 26 0.49 intronic rs725914 BPIFA3 AU NM_178466 exon2 c.6274-65C>T 0.358227 0.4048 Uncertain 20_31812923_G->A 20 31812923 31812923 G A snp 888.77 0/1 99 61 22 39 0.64 exonic rs3818222 BPIFA3 AU nonsynonymous SNV NM_178466 exon4 c.G406A p.V136I 0.664337 0.8115 0.583269 0.5585 0.8144 1 T 0.0 P -0.999 T 0.0 T 0.001 T Pathogenic 20_31813134_C->T 20 31813134 31813134 C T snp 46.77 0/1 33 3 1 2 0.67 intronic rs4911305 BPIFA3 AU NM_178466 exon4 c.7711+81C>T 0.201278 0.1726 Uncertain 20_31814348_G->A 20 31814348 31814348 G A snp 1765.77 0/1 99 165 94 71 0.43 intronic rs1570033 BPIFA3 AU NM_178466 exon5 c.8954+52G>A 0.567492 0.4246 0.4913 0.4325 Uncertain 20_31828265_A->G 20 31828265 31828265 A G snp 539.77 0/1 99 48 28 20 0.42 intronic rs6059187 BPIFA1 AU NM_016583 exon5 c.2674+74A>G 0.541134 0.3909 Uncertain 20_31829083_G->A 20 31829083 31829083 G A snp 275.77 0/1 99 16 5 11 0.69 intronic rs2273529 BPIFA1 AU NM_016583 exon6 c.3673-107G>A 0.213658 0.1786 Uncertain 20_31897554_G->C 20 31897554 31897554 G C snp 3025.77 1/1 99 111 0 111 1.0 exonic rs1999663 BPIFB1 AU nonsynonymous SNV NM_033197 exon16 c.G1436C p.S479T 0.675319 0.7669 0.567815 0.5652 0.7848 1 T 0.0 P -0.947 T 0.001 T 0.001 T Pathogenic 20_31954535_G->A 20 31954535 31954535 G A snp 667.77 0/1 99 50 28 22 0.44 intronic rs111360441 CDK5RAP1 AU NM_016082 exon3 c.7816-129G>A 0.179912 0.3413 Uncertain 20_31954890_C->G 20 31954890 31954890 C G snp 304.77 0/1 78 12 3 9 0.75 intronic rs291674 CDK5RAP1 AU NM_016082 exon3 c.7966+76C>G 0.671925 0.625 Uncertain 20_31961860_T->C 20 31961860 31961860 T C snp 180.77 0/1 99 14 8 6 0.43 intronic rs291676 CDK5RAP1 AU NM_016082 exon6 c.15072-60T>C 0.190695 0.3423 Uncertain 20_31975090_G->A 20 31975090 31975090 G A snp 114.77 0/1 99 9 5 4 0.44 intronic rs293732 CDK5RAP1 AU NM_016082 exon9 c.28280-38G>A 0.682308 0.626 0.679456 0.6944 0.6327 Uncertain 20_31981849_T->C 20 31981849 31981849 T C snp 1980.77 0/1 99 142 60 82 0.58 exonic rs291700 CDK5RAP1 AU synonymous SNV NM_001278167 exon4 c.A432G p.T144T 0.595647 0.5744 0.634476 0.6479 0.5756 Uncertain 20_32000351_A->G 20 32000351 32000351 A G snp 371.77 0/1 99 25 11 14 0.56 intronic rs291694 SNTA1 AD NM_003098 exon5 c.4068-29A>G 0.6877 0.628 0.687221 0.6955 0.6286 Uncertain 20_32077916_C->A 20 32077916 32077916 C A snp 41.77 0/1 70 6 4 2 0.33 intergenic rs187449369 SNTA1 AD 0.217053 0.3353 Uncertain 20_32077925_C->T 20 32077925 32077925 C T snp 146.03 1/1 12 6 0 6 1.0 intergenic rs75667555 SNTA1 AD 0.517372 0.7212 Uncertain 20_32212690_C->T 20 32212690 32212690 C T snp 3244.77 1/1 99 117 0 117 1.0 exonic rs3803939 CBFA2T2 AU synonymous SNV NM_005093 exon7 c.C840T p.P280P 0.669129 0.754 0.582039 0.5461 0.7780 Uncertain 20_32245546_T->C 20 32245546 32245546 T C snp 182.9 1/1 15 6 0 6 1.0 UTR3 rs13037669 NECAB3 AU 0.999201 1 Uncertain 20_32245869_C->G 20 32245869 32245869 C G snp 890.77 1/1 66 30 0 30 1.0 intronic rs3746461 NECAB3 AU NM_031232 exon2 c.205+30C>G 0.635184 0.7808 0.571625 0.5415 0.7590 Uncertain 20_32248163_C->T 20 32248163 32248163 C T snp 1152.77 0/1 99 83 35 48 0.58 exonic rs3746460 NECAB3 AU synonymous SNV NM_031231 exon6 c.G426A p.T142T 0.295327 0.3909 0.285669 0.2895 0.3855 Uncertain 20_32248281_C->T 20 32248281 32248281 C T snp 299.77 0/1 99 20 9 11 0.55 intronic rs17124895 NECAB3 AU NM_031232 exon7 c.2567+80C>T 0.185104 0.3522 Uncertain 20_32255233_T->C 20 32255233 32255233 T C snp 104.28 1/1 9 6 0 6 1.0 UTR5 rs3746459 ACTL10 AU 0.709465 0.7837 Uncertain 20_32262213_G->C 20 32262213 32262213 G C snp 73.77 0/1 28 4 1 3 0.75 UTR5 rs4911358 NECAB3 AU 0.435304 0.4296 Uncertain 20_32295541_C->T 20 32295541 32295541 C T snp 1517.77 1/1 99 56 0 56 1.0 exonic rs910397 PXMP4 AU nonsynonymous SNV NM_007238 exon4 c.G610A p.V204I 0.625599 0.7837 0.531678 0.5319 0.7840 1 T 1.0 P -0.991 T 0.0 T 0.001 T Pathogenic 20_32298323_C->T 20 32298323 32298323 C T snp 639.77 1/1 48 23 0 23 1.0 intronic rs2626529 PXMP4 AU NM_007238 exon2 c.2849-37C>T 0.626597 0.7887 0.531836 0.5361 0.7915 Uncertain 20_32319894_C->T 20 32319894 32319894 C T snp 578.77 1/1 42 24 0 24 1.0 intronic rs2281402 ZNF341 AU NM_032819 exon1 c.31+36C>T 0.21905 0.505 0.2183 0.85 Uncertain 20_32328968_G->T 20 32328968 32328968 G T snp 523.77 1/1 39 16 0 16 1.0 intronic rs6087514 ZNF341 AU NM_001282935 exon2 c.69+150G>T 0.475639 0.6736 Uncertain 20_32378732_G->A 20 32378732 32378732 G A snp 1048.77 0/1 99 125 77 48 0.38 ncRNA_intronic rs2747565 ZNF341-AS1 AU 0.388379 0.4812 Uncertain 20_32379263_T->C 20 32379263 32379263 T C snp 1588.77 1/1 99 58 0 58 1.0 exonic rs2626551 ZNF341 AU synonymous SNV NM_001282935 exon14 c.T2235C p.A745A 0.813498 0.9355 0.734303 0.7239 0.9289 Uncertain 20_32637001_A->G 20 32637001 32637001 A G snp 1921.77 1/1 97 82 2 80 0.98 intronic rs2284385 RALY AU 0.0503195 0.1002 0.1667 . Uncertain 20_32664864_-->CAG 20 32664864 32664864 - CAG indel 3268.73 1/1 99 53 0 53 1.0 exonic rs10649600 RALY AU nonframeshift insertion NM_007367 exon7 c.641_642insCAG p.A214delinsAS 0.7264 0.8057 ID=COSM1326800;OCCURENCE=6(large_intestine),1(urinary_tract),4(breast),1(ovary),1(upper_aerodigestive_tract) Uncertain 20_32664926_G->A 20 32664926 32664926 G A snp 4042.77 1/1 99 164 1 163 0.99 exonic rs2281209 RALY AU nonsynonymous SNV NM_007367 exon7 c.G703A p.G235S 0.0489217 0.0962 0.037476 0.0695 0.1031 0.3 T 0.0 P -0.954 T 0.0 T 0.005 T Pathogenic 20_32890980_G->A 20 32890980 32890980 G A snp 689.77 0/1 99 66 34 32 0.48 intronic AHCY AR NM_000687 exon10 c.22209-68G>A Uncertain 20_32891200_G->T 20 32891200 32891200 G T snp 2770.77 1/1 99 101 0 101 1.0 UTR5 rs819146 AHCY AR 0.677117 0.7877 Uncertain 20_32996689_G->T 20 32996689 32996689 G T snp 514.77 1/1 39 17 0 17 1.0 intronic rs3761147 ITCH AR NM_031483 exon4 c.14981+91G>T 0.606629 0.5952 Uncertain 20_33000354_T->C 20 33000354 33000354 T C snp 808.77 0/1 99 78 40 38 0.49 exonic rs3761146 ITCH AR synonymous SNV NM_031483 exon5 c.T246C p.R82R 0.0219649 0.1062 0.000385 0.0082 0.1064 Uncertain 20_33057975_T->- 20 33057975 33057975 T - indel 2998.73 0/1 99 183 88 95 0.52 intronic rs10716089 ITCH AR NM_031483 exon15 c.76308+50delT 0.637181 0.5853 0.689377 0.6613 0.5782 Uncertain 20_33104592_G->C 20 33104592 33104592 G C snp 1584.77 0/1 99 203 128 75 0.37 intronic rs2424993 DYNLRB1 AU NM_014183 exon1 c.3+326G>C 0.730232 0.5863 0.7646 0.5927 0.12 T 0.000 P -0.977 T Uncertain 20_33128285_C->G 20 33128285 33128285 C G snp 337.77 0/1 99 30 15 15 0.5 intronic rs556916147 DYNLRB1 AU NM_001281728 exon5 c.5933-99C>G Uncertain 20_33147737_C->G 20 33147737 33147737 C G snp 775.77 0/1 99 67 32 35 0.52 UTR3 rs6059915 MAP1LC3A AU 0.790535 0.8214 0.796794 0.8303 0.8108 Uncertain 20_33148861_T->G 20 33148861 33148861 T G snp 403.77 0/1 99 43 25 18 0.42 intronic rs6059916 PIGU AU NM_080476 exon1 c.114+78T>G 0.784545 0.8194 Uncertain 20_33169496_AGAG->- 20 33169496 33169499 AGAG - indel 1032.73 0/1 99 33 14 19 0.58 intronic rs11467128 PIGU AU NM_080476 exon3 c.20807+20_20807+23delAGAG 0.395966 0.4187 0.341348 0.3672 0.4115 Uncertain 20_33296988_T->C 20 33296988 33296988 T C snp 38.77 0/1 67 5 3 2 0.4 intronic rs13037664 TP53INP2 AU NM_021202 exon4 c.496-51T>C 0.677915 0.7738 Uncertain 20_33326876_A->G 20 33326876 33326876 A G snp 426.77 0/1 99 47 24 23 0.49 intronic rs6060025 NCOA6 AU NM_014071 exon5 c.25041-1290A>G 0.805511 0.7768 Uncertain 20_33334540_T->C 20 33334540 33334540 T C snp 733.77 0/1 99 68 38 30 0.44 intronic rs910872 NCOA6 AU NM_014071 exon6 c.31485-70T>C 0.805511 0.7768 Uncertain 20_33337751_T->C 20 33337751 33337751 T C snp 2770.77 0/1 99 250 137 113 0.45 exonic rs3787220 NCOA6 AU synonymous SNV NM_014071 exon9 c.A2247G p.P749P 0.804912 0.7768 0.835614 0.8285 0.7616 Uncertain 20_33342439_T->C 20 33342439 33342439 T C snp 259.77 0/1 99 20 10 10 0.5 intronic rs1884432 NCOA6 AU NM_014071 exon8 c.39399-85T>C 0.805112 0.7768 Uncertain 20_33364584_C->T 20 33364584 33364584 C T snp 603.77 0/1 99 56 27 29 0.52 intronic rs6060043 NCOA6 AU NM_014071 exon12 c.61126+333C>T 0.805312 0.7758 0.7469 0.7233 Uncertain 20_33370266_T->C 20 33370266 33370266 T C snp 166.77 0/1 66 10 3 7 0.7 intronic rs6060048 NCOA6 AU NM_014071 exon13 c.67082+59T>C 0.477835 0.6359 Uncertain 20_33447162_G->A 20 33447162 33447162 G A snp 1441.77 1/1 99 48 0 48 1.0 intronic rs60789653 GGT7 AU NM_178026 exon9 c.14115-83G>A 0.188498 0.2212 Uncertain 20_33447909_A->G 20 33447909 33447909 A G snp 45.77 0/1 74 36 26 10 0.28 intronic GGT7 AU NM_178026 exon10 c.14715+64A>G Uncertain 20_33447915_G->A 20 33447915 33447915 G A snp 886.77 1/1 69 36 0 36 1.0 intronic rs2295094 GGT7 AU NM_178026 exon10 c.14715+70G>A 0.173922 0.2183 Uncertain 20_33460366_G->C 20 33460366 33460366 G C snp 1689.77 1/1 99 62 0 62 1.0 intronic rs11697978 GGT7 AU NM_178026 exon15 c.27319-83G>C 0.243411 0.2966 Uncertain 20_33462951_G->T 20 33462951 33462951 G T snp 1277.77 1/1 90 48 0 48 1.0 intronic rs45585744 ACSS2 AU 0.101038 0.2202 0.020023 0.0642 0.2405 Uncertain 20_33464710_A->G 20 33464710 33464710 A G snp 48.74 1/1 6 2 0 2 1.0 intronic rs2295096 ACSS2 AU NM_018677 exon1 c.178+84A>G 0.245008 0.2976 Uncertain 20_33470694_C->T 20 33470694 33470694 C T snp 3263.77 1/1 99 121 1 120 0.99 exonic rs4911163 ACSS2 AU synonymous SNV NM_001076552 exon2 c.C276T p.F92F 0.512181 0.4355 0.565662 0.5762 0.4750 Uncertain 20_33500245_C->A 20 33500245 33500245 C A snp 96.28 1/1 9 3 0 3 1.0 intronic rs3787214 ACSS2 AU NM_018677 exon3 c.36450-653C>A 0.515176 0.4345 1 . Uncertain 20_33500378_G->A 20 33500378 33500378 G A snp 366.78 1/1 27 15 0 15 1.0 intronic rs2378294 ACSS2 AU NM_018677 exon3 c.36450-520G>A 0.513578 0.4345 Uncertain 20_33508588_G->T 20 33508588 33508588 G T snp 333.78 1/1 27 10 0 10 1.0 intronic rs3746450 ACSS2 AU NM_018677 exon9 c.44064+76G>T 0.515176 0.4345 Uncertain 20_33509275_G->A 20 33509275 33509275 G A snp 3882.77 1/1 99 139 1 138 0.99 intronic rs3818273 ACSS2 AU NM_018677 exon11 c.44817+10G>A 0.510982 0.4345 0.566738 0.5766 0.4756 Uncertain 20_33509523_C->T 20 33509523 33509523 C T snp 1721.77 1/1 99 56 0 56 1.0 intronic rs2273683 ACSS2 AU NM_018677 exon13 c.45140-65C>T 0.663339 0.4345 Uncertain 20_33533736_A->C 20 33533736 33533736 A C snp 1624.77 1/1 99 56 0 56 1.0 intronic rs734111 GSS AR NM_000178 exon11 c.17125-19A>C 0.664337 0.4425 0.705367 0.6196 0.4780 Uncertain 20_33565480_C->T 20 33565480 33565480 C T snp 2356.77 1/1 99 83 0 83 1.0 exonic rs6060137 MYH7B AU synonymous SNV NM_020884 exon4 c.C51T p.A17A 0.267572 0.2173 0.284251 0.3132 0.2741 Uncertain 20_33565665_C->T 20 33565665 33565665 C T snp 254.8 1/1 21 7 0 7 1.0 intronic rs17310782 MYH7B AU NM_020884 exon5 c.2439-71C>T 0.218251 0.2183 Uncertain 20_33569110_A->C 20 33569110 33569110 A C snp 119.77 0/1 99 8 4 4 0.5 intronic rs556095508 MYH7B AU NM_020884 exon9 c.5566+247A>C 0.00159744 0.006 Uncertain 20_33583331_A->G 20 33583331 33583331 A G snp 2147.77 1/1 99 80 0 80 1.0 exonic rs2425015 MYH7B AU nonsynonymous SNV NM_020884 exon28 c.A3019G p.K1007E 1 1 1 1 1 T 0.008 P -0.902 T 0.0 T 0.0 T Pathogenic 20_33584864_-->T 20 33584864 33584864 - T indel 280.77 1/1 21 7 0 7 1.0 intronic rs11167251 MYH7B AU NM_020884 exon31 c.21588-21insT 0.9998 1 0.998881 1 1 Uncertain 20_33586765_T->C 20 33586765 33586765 T C snp 1177.77 0/1 99 129 72 57 0.44 intronic rs80321795 MYH7B AU NM_020884 exon35 c.23421+47T>C 0.0123802 0.0605 0.000155 0.0057 0.0701 Uncertain 20_33604012_A->G 20 33604012 33604012 A G snp 1254.77 0/1 99 128 72 56 0.44 intronic rs144344440 TRPC4AP AU NM_199368 exon10 c.12994+70A>G 0.000199681 0.001 Uncertain 20_33730035_G->C 20 33730035 33730035 G C snp 108.77 0/1 99 12 7 5 0.42 intronic rs75348888 EDEM2 AU NM_018217 exon8 c.26940-140G>C 0.0139776 0.0685 Uncertain 20_33730464_A->G 20 33730464 33730464 A G snp 48.74 1/1 6 2 0 2 1.0 intronic rs3746427 EDEM2 AU NM_018217 exon8 c.27046+183A>G 0.605431 0.376 Uncertain 20_33734905_G->C 20 33734905 33734905 G C snp 6567.77 1/1 99 225 0 225 1.0 intronic rs945959 EDEM2 AU NM_018217 exon11 c.31719-49G>C 0.449481 0.2877 0.494223 0.4362 0.2907 Uncertain 20_33762489_C->T 20 33762489 33762489 C T snp 5721.77 1/1 99 198 0 198 1.0 intronic rs2069948 PROCR AU NM_006404 exon2 c.2547-15C>T 0.60603 0.372 0.642703 0.5690 0.3645 ID=CR143924;DIS=Venous thromboembolism, reduced risk;TAG=DFP;PUB=24436369 DFP Uncertain 20_33763951_C->T 20 33763951 33763951 C T snp 4160.77 1/1 99 158 0 158 1.0 intronic rs2069952 PROCR AU NM_006404 exon3 c.4013-19C>T 0.607029 0.372 0.643341 0.5687 0.3630 Uncertain 20_33764632_C->G 20 33764632 33764632 C G snp 2449.77 1/1 99 90 0 90 1.0 UTR3 rs9574 PROCR AU 0.605631 0.372 0.642473 0.5807 0.3766 ID=CR052974;DIS=Venous thromboembolism, association with;TAG=DP;PUB=16113830 DP Uncertain 20_33867697_A->G 20 33867697 33867697 A G snp 1343.77 1/1 96 45 0 45 1.0 intronic rs619865 EIF6 AU NM_181468 exon3 c.745-47A>G 0.973842 0.999 0.928956 0.9397 0.9995 Uncertain 20_33874188_G->A 20 33874188 33874188 G A snp 281.78 1/1 24 8 0 8 1.0 UTR3 rs4911483 FAM83C AU Uncertain 20_33894463_A->G 20 33894463 33894463 A G snp 704.77 0/1 99 90 54 36 0.4 splicing rs878639 UQCC1 AU NM_001184977 exon2 c.2731-5A>G 0.496206 0.2808 0.497155 0.4325 0.2875 Pathogenic 20_33896757_G->C 20 33896757 33896757 G C snp 35.77 0/1 64 8 6 2 0.25 intronic rs8117705 UQCC1 AU NM_001184977 exon2 c.2845+2175G>C 0.192492 0.0952 Uncertain 20_33971914_C->T 20 33971914 33971914 C T snp 2115.77 0/1 99 209 112 97 0.46 exonic rs4911494 UQCC1 AU nonsynonymous SNV NM_018244 exon3 c.G152A p.R51Q 0.527556 0.7113 0.525757 0.5770 0.7076 0.35 T 0.0 P -0.976 T 0.022 T 0.004 T Pathogenic 20_33972053_C->T 20 33972053 33972053 C T snp 738.77 0/1 99 73 43 30 0.41 intronic rs4911496 UQCC1 AU NM_018244 exon8 c.80199+117C>T 0.508786 0.7113 Uncertain 20_33974051_T->C 20 33974051 33974051 T C snp 98.77 0/1 99 16 9 7 0.44 intronic rs6141549 UQCC1 AU NM_018244 exon8 c.80199+2115T>C 0.527955 0.7113 0.4920 0.6667 Uncertain 20_33974163_T->A 20 33974163 33974163 T A snp 253.77 0/1 99 29 16 13 0.45 intronic rs6088812 UQCC1 AU NM_018244 exon8 c.80199+2227T>A 0.527955 0.7113 0.4935 0.6667 Uncertain 20_33982435_G->A 20 33982435 33982435 G A snp 180.9 1/1 15 5 0 5 1.0 intronic rs6088816 UQCC1 AU NM_001184977 exon7 c.90262+436G>A 0.521565 0.7113 Uncertain 20_33997291_T->A 20 33997291 33997291 T A snp 95.77 0/1 99 13 8 5 0.38 intronic rs6142378 UQCC1 AU NM_001184977 exon8 c.108005-2451T>A 0.508986 0.7113 0.6441 0.6912 Uncertain 20_34022387_A->C 20 34022387 34022387 A C snp 1931.77 0/1 99 212 135 77 0.36 exonic rs224331 GDF5 AR,AD,AU nonsynonymous SNV NM_000557 exon2 c.T826G p.S276A 0.383986 0.2857 0.369064 0.3701 0.2941 0 D 0.0 P -0.939 T 0.0 T 0.001 T Pathogenic 20_34025756_A->G 20 34025756 34025756 A G snp 154.77 0/1 99 15 8 7 0.47 UTR5 rs143384 GDF5 AR,AD,AU 0.561102 0.2887 0.582524 0.4744 0.2965 Uncertain 20_34051584_C->T 20 34051584 34051584 C T snp 283.77 0/1 99 31 19 12 0.39 intronic rs2296401 CEP250 AU NM_007186 exon5 c.1264+128C>T 0.0123802 0.0615 Uncertain 20_34054609_G->C 20 34054609 34054609 G C snp 122.77 0/1 64 7 2 5 0.71 intronic rs224354 CEP250 AU NM_007186 exon8 c.4598-181G>C 0.427716 0.2698 Uncertain 20_34054729_T->C 20 34054729 34054729 T C snp 873.77 0/1 99 64 29 35 0.55 intronic rs2296402 CEP250 AU NM_007186 exon8 c.4598-61T>C 0.371006 0.2688 Uncertain 20_34061578_T->C 20 34061578 34061578 T C snp 880.77 0/1 99 66 33 33 0.5 intronic rs224361 CEP250 AU NM_007186 exon14 c.11502-116T>C 0.448682 0.2698 Uncertain 20_34062642_C->T 20 34062642 34062642 C T snp 975.77 0/1 99 79 41 38 0.48 intronic rs224362 CEP250 AU NM_007186 exon15 c.13134-684C>T 0.427516 0.2698 0.3963 0.2819 0.0 P -0.974 T Uncertain 20_34062710_C->T 20 34062710 34062710 C T snp 1102.77 0/1 99 91 44 47 0.52 intronic rs224363 CEP250 AU NM_007186 exon15 c.13134-616C>T 0.435104 0.2698 0.3974 0.2819 Uncertain 20_34079200_A->G 20 34079200 34079200 A G snp 1545.77 1/1 99 56 0 56 1.0 intronic rs224373 CEP250 AU NM_007186 exon22 c.28980+28A>G 0.9375 0.998 0.866040 0.8633 0.9996 Uncertain 20_34096725_A->G 20 34096725 34096725 A G snp 212.77 0/1 99 17 9 8 0.47 intronic rs2236165 CEP250 AU NM_007186 exon33 c.46579-46A>G 0.401957 0.2688 0.324092 0.4016 0.2857 Uncertain 20_34116282_T->C 20 34116282 34116282 T C snp 1271.77 0/1 99 101 44 57 0.56 exonic rs7261862 C20orf173 AU nonsynonymous SNV NM_001145350 exon4 c.A580G p.K194E 0.227636 0.1419 0.205212 0.2366 0.1472 1 T 0.0 P -0.958 T 0.0 T 0.0 T Pathogenic 20_34131396_C->T 20 34131396 34131396 C T snp 2601.77 0/1 99 210 101 109 0.52 intronic rs12481365 ERGIC3 AU NM_015966 exon4 c.844+706C>T 0.184505 0.1399 0.2144 0.1332 Uncertain 20_34136791_C->T 20 34136791 34136791 C T snp 1496.77 0/1 99 124 64 60 0.48 intronic rs45563939 ERGIC3 AU NM_015966 exon7 c.6772+173C>T 0.188698 0.1399 Uncertain 20_34142257_C->T 20 34142257 34142257 C T snp 115.77 0/1 99 14 8 6 0.43 intronic rs60267524 ERGIC3 AU NM_198398 exon8 c.12311+100C>T 0.192492 0.1399 Uncertain 20_34142287_G->A 20 34142287 34142287 G A snp 85.77 0/1 63 6 2 4 0.67 intronic rs17092784 ERGIC3 AU NM_198398 exon8 c.12311+130G>A 0.188898 0.1399 Uncertain 20_34142670_T->G 20 34142670 34142670 T G snp 196.77 0/1 99 14 6 8 0.57 intronic rs73283830 ERGIC3 AU NM_015966 exon8 c.12968-144T>G 0.192492 0.1399 Uncertain 20_34144107_T->C 20 34144107 34144107 T C snp 3298.77 1/1 99 115 0 115 1.0 intronic rs224420 ERGIC3 AU NM_015966 exon10 c.14196+65T>C 0.998602 0.999 0.996277 0.9959 0.9999 Uncertain 20_34147998_A->G 20 34147998 34147998 A G snp 3447.77 0/1 99 250 111 139 0.56 ncRNA_exonic rs224424 FER1L4 AU 0.39357 0.2222 0.3910 0.2212 Uncertain 20_34148488_G->A 20 34148488 34148488 G A snp 865.77 0/1 99 57 23 34 0.6 ncRNA_intronic rs8115363 FER1L4 AU 0.189497 0.1399 Uncertain 20_34152782_C->T 20 34152782 34152782 C T snp 217.77 0/1 99 22 12 10 0.45 ncRNA_exonic rs2277862 FER1L4 AU 0.188898 0.1369 0.2283 0.1212 Uncertain 20_34164422_T->C 20 34164422 34164422 T C snp 3255.77 1/1 99 113 0 113 1.0 ncRNA_exonic rs1557202 FER1L4 AU 0.998802 1 0.9997 1 Uncertain 20_34167382_G->A 20 34167382 34167382 G A snp 1876.77 0/1 99 142 71 71 0.5 ncRNA_splicing rs8116470 FER1L4 AU 0.188898 0.0982 0.2882 0.1022 Uncertain 20_34170035_C->G 20 34170035 34170035 C G snp 3888.77 1/1 99 140 0 140 1.0 ncRNA_exonic rs6060486 FER1L4 AU 0.9993 1 Uncertain 20_34170174_C->A 20 34170174 34170174 C A snp 1449.77 0/1 99 126 64 62 0.49 ncRNA_intronic rs6119628 FER1L4 AU 0.603435 0.8115 0.5391 0.8030 Uncertain 20_34170316_C->A 20 34170316 34170316 C A snp 1208.77 1/1 90 35 0 35 1.0 ncRNA_exonic rs6060487 FER1L4 AU 0.996206 1 0.9993 1 Uncertain 20_34171324_G->A 20 34171324 34171324 G A snp 396.77 0/1 99 21 9 12 0.57 ncRNA_intronic rs6088887 FER1L4 AU 0.190296 0.1042 Uncertain 20_34173046_C->T 20 34173046 34173046 C T snp 2647.77 0/1 99 202 98 104 0.51 ncRNA_exonic rs1536147 FER1L4 AU 0.617212 0.8383 0.5692 0.8469 Uncertain 20_34173178_A->G 20 34173178 34173178 A G snp 1735.77 0/1 99 143 74 69 0.48 ncRNA_exonic rs6060488 FER1L4 AU 0.810703 0.9137 0.7342 0.9406 Uncertain 20_34205035_G->A 20 34205035 34205035 G A snp 1572.77 0/1 99 134 61 73 0.54 intronic rs11698601 SPAG4 AU NM_003116 exon2 c.1132-22G>A 0.233826 0.1359 0.200478 0.2916 0.2129 Uncertain 20_34205389_-->C 20 34205389 34205389 - C indel 459.73 0/1 99 34 18 16 0.47 intronic rs3841688 SPAG4 AU NM_003116 exon3 c.1516-52insC 0.286941 0.1815 0.260863 Uncertain 20_34207063_CCCGACT->- 20 34207063 34207069 CCCGACT - indel 1820.73 0/1 99 37 17 20 0.54 intronic rs149341858 SPAG4 AU NM_003116 exon9 c.3191-53_3191-47delCCCGACT Uncertain 20_34214368_T->C 20 34214368 34214368 T C snp 1003.77 0/1 99 84 47 37 0.44 intronic rs6060516 CPNE1 AU NM_001198863 exon1 c.141+65T>C 0.267971 0.1359 Uncertain 20_34215234_-->A 20 34215234 34215234 - A indel 930.73 0/1 99 56 27 29 0.52 exonic rs147019139 CPNE1 AU frameshift insertion NM_001198863 exon14 c.1203dupT p.A402fs 0.10603 0.0843 0.100559 0.1065 0.0830 ID=COSM112002;OCCURENCE=1(ovary) Pathogenic 20_34218673_G->C 20 34218673 34218673 G C snp 1252.77 0/1 99 179 121 58 0.32 exonic rs12481228 CPNE1 AU nonsynonymous SNV NM_001198863 exon12 c.C1040G p.P347R 0.103634 0.0833 0.099877 0.1061 0.0826 0.02 T 1.000 P -1.219 T 0.763 T 0.656 P Pathogenic 20_34219496_T->C 20 34219496 34219496 T C snp 3631.77 0/1 99 250 107 143 0.57 exonic rs6579255 CPNE1 AU nonsynonymous SNV NM_001198863 exon8 c.A632G p.Q211R 0.271965 0.1359 0.259649 0.2229 0.1344 0.53 T 0.000 P -0.969 T 0.0 T 0.002 T Pathogenic 20_34219987_A->C 20 34219987 34219987 A C snp 1954.77 0/1 99 208 125 83 0.4 intronic rs61191623 CPNE1 AU NM_001198863 exon11 c.5785+40A>C 0.138379 0.0843 0.137936 0.1370 0.0821 Uncertain 20_34219990_A->C 20 34219990 34219990 A C snp 1922.77 0/1 99 209 126 83 0.4 intronic rs78084033 CPNE1 AU NM_001198863 exon11 c.5785+43A>C 0.138379 0.0843 0.135399 0.1371 0.0822 Uncertain 20_34219994_T->C 20 34219994 34219994 T C snp 1885.77 0/1 99 207 125 82 0.4 intronic rs10211771 CPNE1 AU NM_001198863 exon11 c.5785+47T>C 0.28734 0.1835 0.264263 0.2272 0.1744 Uncertain 20_34243017_C->T 20 34243017 34243017 C T snp 3221.92 0/1 99 250 125 125 0.5 exonic rs6121015 RBM12 AU synonymous SNV NM_001198840 exon2 c.G228A p.K76K 0.271166 0.1339 0.259342 0.2229 0.1376 Uncertain 20_34268874_-->CCA 20 34268874 34268874 - CCA indel 321.73 0/1 99 18 10 8 0.44 intronic rs3056722 NFS1 AU NM_001198989 exon7 c.11250+81insCCA 0.289537 0.1835 Uncertain 20_34285442_C->T 20 34285442 34285442 C T snp 37.77 0/1 51 4 2 2 0.5 intronic rs6060565 NFS1 AU NM_001198989 exon10 c.28062-163C>T 0.288938 0.1855 Uncertain 20_34286251_G->T 20 34286251 34286251 G T snp 306.77 0/1 99 22 11 11 0.5 intronic rs56116518 NFS1 AU NM_001198989 exon11 c.28859-151G>T 0.102636 0.0774 Uncertain 20_34295770_G->A 20 34295770 34295770 G A snp 542.77 0/1 99 72 45 27 0.38 intronic rs144968538 RBM39 AU NM_004902 exon4 c.2721+647G>A 0.00319489 0.0159 Uncertain 20_34304783_C->A 20 34304783 34304783 C A snp 306.77 0/1 99 37 21 16 0.43 intronic rs2425090 RBM39 AU NM_004902 exon8 c.12325+56C>A 0.192891 0.1319 0.186924 Uncertain 20_34307950_T->C 20 34307950 34307950 T C snp 82.77 0/1 96 8 4 4 0.5 intronic rs59064961 RBM39 AU NM_004902 exon9 c.17259-1711T>C 0.195487 0.1319 0.2415 0.1389 Uncertain 20_34312658_A->G 20 34312658 34312658 A G snp 1721.77 0/1 99 149 77 72 0.48 intronic rs11696947 RBM39 AU NM_004902 exon10 c.20242+14A>G 0.109425 0.0843 0.105336 0.1082 0.0884 Uncertain 20_34312713_C->T 20 34312713 34312713 C T snp 763.77 0/1 99 71 40 31 0.44 intronic rs11699044 RBM39 AU NM_004902 exon10 c.20242+69C>T 0.163738 0.1319 Uncertain 20_34319765_A->C 20 34319765 34319765 A C snp 46.77 0/1 31 3 1 2 0.67 intronic rs2425111 RBM39 AU NM_004902 exon14 c.27460-97A>C 0.195687 0.1319 Uncertain 20_34319775_A->T 20 34319775 34319775 A T snp 46.77 0/1 31 3 1 2 0.67 intronic rs2425112 RBM39 AU NM_004902 exon14 c.27460-87A>T 0.289936 0.1835 Uncertain 20_34320203_A->- 20 34320203 34320203 A - indel 82.87 1/1 15 10 0 10 1.0 intronic rs11479445 RBM39 AU NM_004902 exon14 c.27655+146delA 0.835264 0.7917 Uncertain 20_34321895_A->G 20 34321895 34321895 A G snp 86.77 0/1 30 4 1 3 0.75 intronic rs6058311 RBM39 AU NM_004902 exon14 c.27655+1838A>G 0.110024 0.0843 Uncertain 20_34324456_A->T 20 34324456 34324456 A T snp 560.77 0/1 99 71 44 27 0.38 intronic rs2425120 RBM39 AU NM_004902 exon15 c.34487-2433A>T 0.195487 0.1319 0.1721 0.1235 Uncertain 20_34324484_A->C 20 34324484 34324484 A C snp 640.77 0/1 99 78 45 33 0.42 intronic rs6058312 RBM39 AU NM_004902 exon15 c.34487-2405A>C 0.195487 0.1319 0.1722 0.1235 Uncertain 20_34327159_T->A 20 34327159 34327159 T A snp 44.77 0/1 33 3 1 2 0.67 intronic rs1056196 RBM39 AU NM_004902 exon15 c.34537+220T>A 0.110024 0.0843 Uncertain 20_34328274_G->A 20 34328274 34328274 G A snp 1077.77 1/1 81 32 0 32 1.0 intronic rs1538426 RBM39 AU NM_004902 exon16 c.36343-471G>A 0.969249 1 Uncertain 20_34328848_C->T 20 34328848 34328848 C T snp 1114.77 0/1 99 80 34 46 0.57 intronic rs2425122 RBM39 AU NM_004902 exon16 c.36407+39C>T 0.195288 0.1319 0.190457 0.1531 0.1271 Uncertain 20_34443173_G->C 20 34443173 34443173 G C snp 1686.77 0/1 99 165 90 75 0.45 intronic rs2425171 PHF20 AU NM_016436 exon5 c.56779-3050G>C 0.293331 0.1835 0.253401 0.2266 0.1799 Uncertain 20_34446395_A->G 20 34446395 34446395 A G snp 501.77 0/1 99 42 22 20 0.48 intronic rs2425178 PHF20 AU NM_016436 exon5 c.56859+92A>G 0.291134 0.1835 Uncertain 20_34457513_G->A 20 34457513 34457513 G A snp 3549.77 0/1 99 250 111 139 0.56 intronic rs6121073 PHF20 AU NM_016436 exon7 c.68029+40G>A 0.288139 0.1845 0.251192 0.2199 0.1814 Uncertain 20_34502107_G->A 20 34502107 34502107 G A snp 2697.77 0/1 99 234 119 115 0.49 exonic rs17431878 PHF20 AU nonsynonymous SNV NM_016436 exon12 c.G1813A p.V605M 0.105831 0.0863 0.094726 0.1047 0.0884 0.1 T 1.000 P -1.051 T 0.148 T 0.033 T Pathogenic 20_34535373_T->C 20 34535373 34535373 T C snp 748.77 0/1 99 76 41 35 0.46 intronic rs6088971 PHF20 AU NM_016436 exon18 c.145962-33T>C 0.30611 0.1855 0.263955 0.2253 0.1795 Uncertain 20_34542365_C->G 20 34542365 34542365 C G snp 2786.77 0/1 99 249 127 122 0.49 splicing rs35448195 SCAND1 AU NM_033630 exon2 c.703-4C>G 0.10643 0.0893 0.1413 0.0905 Pathogenic 20_34560526_G->A 20 34560526 34560526 G A snp 1546.77 0/1 99 137 73 64 0.47 intronic rs11167280 CNBD2 AU NM_001304367 exon2 c.3866-24G>A 0.107628 0.0942 0.094110 0.1064 0.0986 Uncertain 20_34563894_A->G 20 34563894 34563894 A G snp 1275.77 0/1 99 119 66 53 0.45 exonic rs143262184 CNBD2 AU synonymous SNV NM_001207076 exon3 c.A213G p.T71T 0.00279553 0.0139 0.0015 0.0202 Uncertain 20_34568262_-->AT 20 34568262 34568262 - AT indel 363.73 0/1 99 14 6 8 0.57 intronic rs10627329 CNBD2 AU NM_001207076 exon4 c.11696-118insAT 0.359824 0.3075 Uncertain 20_34571846_T->C 20 34571846 34571846 T C snp 203.77 0/1 99 28 20 8 0.29 intronic rs6058388 CNBD2 AU NM_001207076 exon5 c.15219-57T>C 0.360024 0.3075 Uncertain 20_34572834_G->A 20 34572834 34572834 G A snp 768.77 0/1 99 64 36 28 0.44 intronic rs6141583 CNBD2 AU NM_001207076 exon6 c.16016+134G>A 0.160543 0.2272 Uncertain 20_34596371_C->T 20 34596371 34596371 C T snp 774.77 0/1 99 84 46 38 0.45 exonic rs6060750 CNBD2 AU nonsynonymous SNV NM_001207076 exon9 c.C1123T p.P375S 0.309904 0.3135 0.236352 0.2429 0.3116 0.34 T 0.825 P -0.923 T 0.42 T 0.09 T Pathogenic 20_34611451_A->- 20 34611451 34611451 A - indel 359.73 0/1 99 36 21 15 0.42 intronic rs11477706 CNBD2 AU NM_080834 exon11 c.54851-84delA 0.42472 0.3105 Uncertain 20_34740987_C->T 20 34740987 34740987 C T snp 897.77 0/1 99 98 59 39 0.4 intergenic rs76246876 LINC00657 AU 0.00219649 0.0109 0.0002 0.0051 Uncertain 20_34743039_-->G 20 34743039 34743039 - G indel 766.73 0/1 99 63 29 34 0.54 intronic rs368662808 EPB41L1 AU NM_001258330 exon4 c.50107-20433insG 0.0006 0.0152 Uncertain 20_34832755_C->A 20 34832755 34832755 C A snp 1240.77 0/1 99 111 61 50 0.45 exonic rs117200013 AAR2 AU synonymous SNV NM_001271874 exon3 c.C894A p.L298L 0.00299521 0.0149 0.0016 0.0216 Uncertain 20_35064912_G->A 20 35064912 35064912 G A snp 46.77 0/1 33 4 2 2 0.5 intronic rs1275393 DLGAP4 AU NM_014902 exon4 c.4633+159G>A 0.611821 0.6627 Uncertain 20_35068018_A->G 20 35068018 35068018 A G snp 459.77 0/1 99 26 11 15 0.58 intronic rs1275396 DLGAP4 AU NM_014902 exon5 c.8036-138A>G 0.755591 0.6776 Uncertain 20_35090820_C->G 20 35090820 35090820 C G snp 685.77 0/1 99 55 32 23 0.42 UTR5 rs1275391 DLGAP4 AU 0.559305 0.6468 Uncertain 20_35207529_A->G 20 35207529 35207529 A G snp 155.77 0/1 99 9 4 5 0.56 intronic rs75200387 TGIF2 AU NM_001199513 exon2 c.192+160A>G 0.038738 0.004 Uncertain 20_35234493_C->T 20 35234493 35234493 C T snp 676.77 0/1 99 74 39 35 0.47 intronic C20orf24 AU NM_001199534 exon1 c.114+25C>T Uncertain 20_35242904_A->G 20 35242904 35242904 A G snp 113.77 0/1 93 7 3 4 0.57 intronic rs541167978 SLA2 AU NM_032214 exon2 c.572+64A>G 0.00379393 Uncertain 20_35390765_G->A 20 35390765 35390765 G A snp 197.77 0/1 99 27 17 10 0.37 intronic rs149719432 DSN1 AU NM_001145317 exon6 c.9673-98G>A 0.0061901 0.0288 Uncertain 20_35491551_A->G 20 35491551 35491551 A G snp 907.77 1/1 66 30 0 30 1.0 exonic rs6029806 SOGA1 AU nonsynonymous SNV NM_080627 exon1 c.T197C p.F66S 1 1 1 1 0.83 T 0.901 P -0.959 T Pathogenic 20_35508959_T->C 20 35508959 35508959 T C snp 1808.77 1/1 99 64 0 64 1.0 intronic rs1291125 TLDC2 AU NM_080628 exon4 c.4480-98T>C 0.457867 0.5655 Uncertain 20_35532445_-->GATGACTTCTT 20 35532445 35532445 - GATGACTTCTT indel 689.87 1/1 15 5 0 5 1.0 intronic rs11466931 SAMHD1 AU,AD NM_015474 exon4 c.11225-114insGATGACTTCTT 0.71226 0.5327 Uncertain 20_35559352_A->C 20 35559352 35559352 A C snp 3067.77 1/1 99 103 0 103 1.0 intronic rs6072746 SAMHD1 AU,AD NM_015474 exon12 c.37944+74A>C 0.386981 0.505 Uncertain 20_35738841_G->C 20 35738841 35738841 G C snp 3062.77 1/1 99 110 0 110 1.0 intronic rs1744759 MROH8 AU NM_152503 exon4 c.7669+83G>C 0.787141 0.506 Uncertain 20_35740794_T->C 20 35740794 35740794 T C snp 6540.77 1/1 99 248 0 248 1.0 exonic rs1744760 MROH8 AU unknown 0.415535 0.4712 0.404342 0.4781 0.4662 0.76 T 0.000 P -0.960 T 0.0 T 0.001 T Uncertain 20_35748024_G->A 20 35748024 35748024 G A snp 338.78 1/1 27 11 0 11 1.0 intronic rs1780670 MROH8 AU NM_152503 exon8 c.17011-76G>A 0.392772 0.4425 Uncertain 20_35748039_-->AAAGAAAAGAAAAGA 20 35748039 35748039 - AAAGAAAAGAAAAGA indel 980.8 1/1 18 11 0 11 1.0 intronic MROH8 AU NM_152503 exon8 c.17011-61insAAAGAAAAGAAAAGA Uncertain 20_35748894_C->G 20 35748894 35748894 C G snp 3928.77 1/1 99 156 0 156 1.0 intronic rs1624888 MROH8 AU NM_152503 exon9 c.17817-12C>G 0.746006 0.504 0.840630 0.7716 0.5225 Uncertain 20_35769592_T->C 20 35769592 35769592 T C snp 5130.77 1/1 99 189 0 189 1.0 exonic rs1744769 MROH8 AU unknown 0.766773 0.505 0.855179 0.7709 0.5061 1.000 P -1.029 T Uncertain 20_35769647_G->T 20 35769647 35769647 G T snp 4848.77 1/1 99 179 0 179 1.0 exonic rs1780680 MROH8 AU unknown 0.420527 0.4633 0.392017 0.4470 0.4856 0.5 T 0.0 P -0.930 T 0.0 T 0.0 T Uncertain 20_35769855_T->C 20 35769855 35769855 T C snp 99.28 1/1 9 3 0 3 1.0 intronic rs1744770 MROH8 AU NM_213631 exon3 c.12295+138T>C 0.40655 0.4633 Uncertain 20_35783494_T->C 20 35783494 35783494 T C snp 2821.77 1/1 99 101 0 101 1.0 exonic rs1615246 MROH8 AU unknown 0.434704 0.4891 0.391841 0.4285 0.4938 0.69 T 0.081 P -0.897 T 0.319 T 0.069 T Uncertain 20_35786188_A->C 20 35786188 35786188 A C snp 2027.77 1/1 99 67 0 67 1.0 intronic rs1780687 MROH8 AU NM_213631 exon7 c.28840-74A>C 0.765575 0.501 Uncertain 20_35787473_A->G 20 35787473 35787473 A G snp 3031.77 1/1 99 109 1 108 0.99 intronic rs1744775 MROH8 AU NM_213631 exon8 c.30017+34A>G 0.420128 0.4891 0.376245 0.4551 0.5597 Uncertain 20_35796575_G->A 20 35796575 35796575 G A snp 1584.77 0/1 99 156 82 74 0.47 exonic rs116925706 MROH8 AU unknown 0.0153754 0.001 0.013845 0.0360 0.0024 1 D -0.989 T Uncertain 20_35807790_-->CTTATAGACAGGGCCCCGCGGCCGGCACT 20 35807790 35807790 - CTTATAGACAGGGCCCCGCGGCCGGCACT indel 12855.7 1/1 99 46 0 46 1.0 exonic rs11467214 MROH8 AU unknown 0.648363 0.4673 0.7752 0.5762 ID=COSM1592566,COSM1026494,COSM1592567;OCCURENCE=1(endometrium) Uncertain 20_35826683_T->G 20 35826683 35826683 T G snp 1057.77 1/1 78 31 0 31 1.0 intronic rs2076399 RPN2 AU NM_002951 exon3 c.19040-116T>G 0.560104 0.4623 Uncertain 20_35827682_G->T 20 35827682 35827682 G T snp 347.78 1/1 27 10 0 10 1.0 intronic rs2076398 RPN2 AU NM_001135771 exon3 c.19869+54G>T 0.685304 0.4712 Uncertain 20_35828696_A->G 20 35828696 35828696 A G snp 141.03 1/1 12 4 0 4 1.0 intronic rs6032013 RPN2 AU NM_001135771 exon3 c.19869+1068A>G 0.686502 0.4712 Uncertain 20_35828758_TT->- 20 35828758 35828759 TT - indel 880.73 1/1 76 26 0 26 1.0 intronic rs11482444 RPN2 AU NM_001135771 exon3 c.19869+1130_19869+1131delTT 0.654752 0.4722 Uncertain 20_35835657_C->T 20 35835657 35835657 C T snp 1718.77 1/1 99 66 0 66 1.0 intronic rs11698281 RPN2 AU NM_001135771 exon6 c.27916-18C>T 0.668331 0.4712 0.766800 0.7185 0.4695 Uncertain 20_35835889_A->G 20 35835889 35835889 A G snp 2206.77 1/1 99 82 0 82 1.0 intronic rs1079657 RPN2 AU NM_001135771 exon6 c.28093+37A>G 0.69349 0.4712 0.803245 0.7447 0.4713 Uncertain 20_35838372_T->A 20 35838372 35838372 T A snp 1060.77 1/1 78 38 0 38 1.0 intronic rs2272950 RPN2 AU NM_001135771 exon7 c.30690-77T>A 0.69349 0.4712 Uncertain 20_35838591_T->C 20 35838591 35838591 T C snp 3938.77 1/1 99 147 0 147 1.0 intronic rs2050091 RPN2 AU NM_001135771 exon7 c.30809+23T>C 0.986621 1 0.968169 0.9664 1 Uncertain 20_35838756_G->A 20 35838756 35838756 G A snp 258.8 1/1 21 9 0 9 1.0 intronic rs3817885 RPN2 AU NM_001135771 exon7 c.30809+188G>A 0.694289 0.4712 Uncertain 20_35852309_G->A 20 35852309 35852309 G A snp 2492.77 0/1 99 242 136 106 0.44 exonic rs117475222 RPN2 AU nonsynonymous SNV NM_002951 exon10 c.G1121A p.G374D 0.014377 0.001 0.013609 0.0185 0.0003 0.38 T 1.000 D -1.115 T 0.833 T 0.422 P ID=CM0910864;DIS=Congenital disorder of glycosylation 1;TAG=DM?;PUB=19835842 DM? Pathogenic 20_35852395_A->C 20 35852395 35852395 A C snp 3042.77 1/1 99 90 0 90 1.0 intronic rs2076397 RPN2 AU NM_001135771 exon9 c.44613+23A>C 0.771366 0.5 0.865447 0.7694 0.5020 Uncertain 20_35852450_G->C 20 35852450 35852450 G C snp 954.77 1/1 72 24 0 24 1.0 intronic rs2076396 RPN2 AU NM_001135771 exon9 c.44613+78G>C 0.771366 0.5 Uncertain 20_35865054_C->T 20 35865054 35865054 C T snp 4341.77 1/1 99 162 1 161 0.99 exonic rs4608 RPN2 AU synonymous SNV NM_002951 exon16 c.C1825T p.L609L 0.69369 0.4712 0.803168 0.7450 0.4697 Uncertain 20_35869619_C->T 20 35869619 35869619 C T snp 2064.77 1/1 99 86 0 86 1.0 intronic rs2050093 RPN2 AU NM_001135771 exon17 c.61946-86C>T 0.69369 0.4712 0.800701 Uncertain 20_36030939_G->C 20 36030939 36030939 G C snp 3446.77 1/1 99 126 1 125 0.99 exonic rs1885257 SRC AU,AD synonymous SNV NM_005417 exon12 c.G1218C p.A406A 1 1 1 1 Uncertain 20_36031097_A->G 20 36031097 36031097 A G snp 4191.77 1/1 99 147 0 147 1.0 intronic rs2145792 SRC AU,AD NM_198291 exon13 c.18595-54A>G 1 1 Uncertain 20_36375071_T->C 20 36375071 36375071 T C snp 869.77 0/1 99 87 51 36 0.41 intronic rs2297154 CTNNBL1 AU NM_030877 exon4 c.52485+62T>C 0.955671 0.9732 0.9443 0.9762 Uncertain 20_36488509_CTCA->- 20 36488509 36488512 CTCA - indel 5137.73 1/1 99 91 0 91 1.0 intronic rs3833308 CTNNBL1 AU NM_030877 exon14 c.165914+71_165914+74delCTCA 0.807109 0.869 Uncertain 20_36488911_G->T 20 36488911 36488911 G T snp 139.03 1/1 12 4 0 4 1.0 intronic rs1474623 CTNNBL1 AU NM_030877 exon15 c.166222+165G>T 0.807708 0.869 Uncertain 20_36685915_T->C 20 36685915 36685915 T C snp 1800.77 0/1 99 146 65 81 0.55 intronic rs2256288 RPRD1B AU NM_021215 exon4 c.23584-18T>C 0.849042 0.7808 0.850761 0.7993 0.7867 Uncertain 20_36758778_G->C 20 36758778 36758778 G C snp 784.77 0/1 99 78 42 36 0.46 intronic rs2076377 TGM2 AU NM_004613 exon1 c.151+7G>C 0.303714 0.2986 0.244462 0.2585 0.3870 Uncertain 20_36758858_C->T 20 36758858 36758858 C T snp 267.77 0/1 54 10 2 8 0.8 intronic rs2076378 TGM2 AU NM_004613 exon1 c.151+87C>T 0.182708 0.2679 Uncertain 20_36759751_-->C 20 36759751 36759751 - C indel 416.73 0/1 99 46 21 25 0.54 intronic rs111895659 TGM2 AU NM_004613 exon2 c.1011+120insC 0.255591 0.2986 Uncertain 20_36760744_G->A 20 36760744 36760744 G A snp 778.77 0/1 99 56 26 30 0.54 exonic rs201666703 TGM2 AU nonsynonymous SNV NM_004613 exon11 c.C1774T p.R592W 0.000798722 0.004 0.0004 0.0044 0 D 0.997 D -0.174 T 1.0 D 0.998 D Pathogenic 20_36761014_G->A 20 36761014 36761014 G A snp 1742.77 0/1 99 130 57 73 0.56 intronic rs2076386 TGM2 AU NM_004613 exon3 c.2282+112G>A 0.16873 0.2718 0.1678 0.3311 Uncertain 20_36761202_G->A 20 36761202 36761202 G A snp 2508.77 0/1 99 245 131 114 0.47 intronic rs1555074 TGM2 AU NM_004613 exon3 c.2282+300G>A 0.16853 0.2718 0.1810 0.2685 Uncertain 20_36769486_C->T 20 36769486 36769486 C T snp 146.77 0/1 99 13 8 5 0.38 intronic rs17789803 TGM2 AU NM_004613 exon6 c.11063-197C>T 0.200479 0.2728 Uncertain 20_36769792_G->A 20 36769792 36769792 G A snp 1477.77 0/1 99 119 61 58 0.49 splicing rs2076389 TGM2 AU NM_004613 exon6 c.11167+5G>A 0.196086 0.2728 0.138465 0.2451 0.3928 Pathogenic 20_36769839_G->A 20 36769839 36769839 G A snp 874.77 0/1 99 82 47 35 0.43 intronic rs12624511 TGM2 AU NM_004613 exon6 c.11167+52G>A 0.203075 0.2738 0.151348 0.1907 0.25 Uncertain 20_36770588_C->T 20 36770588 36770588 C T snp 3385.77 0/1 99 246 115 131 0.53 exonic rs2076390 TGM2 AU synonymous SNV NM_004613 exon7 c.G873A p.L291L 0.202077 0.2718 0.156928 0.1620 0.2935 Uncertain 20_36774850_G->A 20 36774850 36774850 G A snp 304.77 0/1 99 31 17 14 0.45 intronic rs45499198 TGM2 AU NM_004613 exon8 c.16498-268G>A 0.202276 0.3274 Uncertain 20_36774863_-->G 20 36774863 36774863 - G indel 435.73 0/1 99 39 24 15 0.38 intronic rs397741828 TGM2 AU NM_004613 exon8 c.16498-255insG 0.161142 0.2708 Uncertain 20_36793529_G->A 20 36793529 36793529 G A snp 3917.77 1/1 99 140 0 140 1.0 intronic rs2076380 TGM2 AU NM_004613 exon13 c.34970-61G>A 0.360024 0.5198 0.285151 Uncertain 20_36841293_G->A 20 36841293 36841293 G A snp 80.28 1/1 9 3 0 3 1.0 UTR3 rs1053931 KIAA1755 AU 0.374601 0.5238 Uncertain 20_36841756_T->C 20 36841756 36841756 T C snp 4702.77 1/1 99 171 0 171 1.0 exonic rs1534967 KIAA1755 AU synonymous SNV NM_001029864 exon14 c.A3291G p.S1097S 0.393371 0.5238 0.392956 0.4776 0.5236 Uncertain 20_36845738_C->T 20 36845738 36845738 C T snp 3721.77 1/1 99 142 1 141 0.99 exonic rs760998 KIAA1755 AU nonsynonymous SNV NM_001029864 exon13 c.G2818A p.E940K 0.336462 0.5188 0.294525 0.3722 0.5223 1 T 0.0 P -0.918 T 0.0 T 0.0 T Pathogenic 20_36850940_G->C 20 36850940 36850940 G C snp 727.77 0/1 99 61 31 30 0.49 exonic rs41310010 KIAA1755 AU synonymous SNV NM_001029864 exon10 c.C2328G p.P776P 0.109026 0.0992 0.097032 0.0891 0.1161 Uncertain 20_36868191_C->T 20 36868191 36868191 C T snp 760.77 0/1 99 61 24 37 0.61 intronic rs1205433 KIAA1755 AU NM_001029864 exon11 c.26684+64C>T 0.285343 0.3512 Uncertain 20_36869516_C->A 20 36869516 36869516 C A snp 1856.77 0/1 99 123 54 69 0.56 exonic rs1205434 KIAA1755 AU nonsynonymous SNV NM_001029864 exon3 c.G1017T p.K339N 0.257788 0.2679 0.286791 0.3077 0.2390 0.03 T 0.011 P -1.043 T 0.013 T 0.01 T Pathogenic 20_36870122_T->G 20 36870122 36870122 T G snp 1533.77 0/1 99 151 89 62 0.41 exonic rs1205435 KIAA1755 AU synonymous SNV NM_001029864 exon3 c.A411C p.P137P 0.264776 0.2728 0.285791 0.3088 0.2458 Uncertain 20_36919616_G->A 20 36919616 36919616 G A snp 406.77 0/1 99 49 32 17 0.35 intergenic rs6014601 LOC149684 AU 0.491214 0.5387 Uncertain 20_36919758_A->G 20 36919758 36919758 A G snp 1639.77 0/1 99 141 72 69 0.49 intergenic rs10446011 LOC149684 AU 0.178514 0.0883 0.2989 0.1017 Uncertain 20_36932551_G->C 20 36932551 36932551 G C snp 1183.77 0/1 99 118 65 53 0.45 upstream rs1341022 BPI AU 0.41893 0.5327 0.5076 0.5028 Uncertain 20_36932660_C->T 20 36932660 36932660 C T snp 1164.77 0/1 99 110 60 50 0.45 exonic rs1341023 BPI AU nonsynonymous SNV NM_001725 exon1 c.C47T p.A16V 0.43131 0.5764 0.427418 0.5062 0.5535 0.62 T 0.0 P -0.948 T 0.8 T 0.098 P Pathogenic 20_36932676_G->C 20 36932676 36932676 G C snp 1085.77 0/1 99 102 55 47 0.46 exonic rs1341024 BPI AU synonymous SNV NM_001725 exon1 c.G63C p.L21L 0.434704 0.5823 0.430032 0.5076 0.5557 Uncertain 20_36936273_C->T 20 36936273 36936273 C T snp 46.77 0/1 70 5 2 3 0.6 intronic rs5743499 BPI AU NM_001725 exon2 c.3470+190C>T 0.0563099 0.0496 Uncertain 20_36938730_T->C 20 36938730 36938730 T C snp 189.77 0/1 99 11 5 6 0.55 intronic rs6024767 BPI AU NM_001725 exon4 c.6279-162T>C 0.933506 0.6954 Uncertain 20_36940169_A->G 20 36940169 36940169 A G snp 264.77 0/1 85 16 4 12 0.75 intronic rs3746476 BPI AU NM_001725 exon5 c.7662-106A>G 0.188498 0.3194 Uncertain 20_36946848_G->A 20 36946848 36946848 G A snp 1324.77 0/1 99 123 65 58 0.47 exonic rs4358188 BPI AU nonsynonymous SNV NM_001725 exon6 c.G646A p.E216K 0.435104 0.2173 0.495310 0.4624 0.2262 1 T 0.0 P -0.907 T 0.001 T 0.0 T ID=CM114695;DIS=Inflammatory bowel disease, association with;TAG=DP;PUB=21272798 DP Pathogenic 20_36953097_C->T 20 36953097 36953097 C T snp 3514.77 1/1 99 129 0 129 1.0 intronic rs5741806 BPI AU NM_001725 exon9 c.20562-78C>T 0.51278 0.495 Uncertain 20_36954724_C->T 20 36954724 36954724 C T snp 2265.77 0/1 99 168 74 94 0.56 exonic rs5743523 BPI AU nonsynonymous SNV NM_001725 exon10 c.C1063T p.P355S 0.114018 0.4157 0.006920 0.0490 0.3893 0.02 T 0.0 P -0.987 T 0.998 D 0.84 D Pathogenic 20_36956026_A->G 20 36956026 36956026 A G snp 1509.77 0/1 99 150 82 68 0.45 exonic rs5741809 BPI AU nonsynonymous SNV NM_001725 exon11 c.A1210G p.N404D 0.167532 0.4335 0.054975 0.0693 0.4217 0.65 T 0.0 P -0.938 T 0.0 T 0.0 T Pathogenic 20_36956100_C->T 20 36956100 36956100 C T snp 1151.77 0/1 99 127 76 51 0.4 intronic rs5741810 BPI AU NM_001725 exon11 c.23444+43C>T 0.158147 0.4325 0.044825 0.0629 0.4160 Uncertain 20_36956109_T->C 20 36956109 36956109 T C snp 1069.77 0/1 99 120 72 48 0.4 intronic rs5743528 BPI AU NM_001725 exon11 c.23444+52T>C 0.165935 0.4335 0.054593 0.0660 0.4159 Uncertain 20_36956125_T->C 20 36956125 36956125 T C snp 868.77 0/1 99 107 67 40 0.37 intronic rs5743529 BPI AU NM_001725 exon11 c.23444+68T>C 0.165535 0.4335 0.046868 Uncertain 20_36956197_C->T 20 36956197 36956197 C T snp 227.77 0/1 99 37 27 10 0.27 intronic rs5743530 BPI AU NM_001725 exon11 c.23444+140C>T 0.165335 0.4325 Uncertain 20_36959566_A->G 20 36959566 36959566 A G snp 2162.77 1/1 99 76 0 76 1.0 intronic rs2425357 BPI AU NM_001725 exon12 c.26879+74A>G 0.974441 0.999 0.970872 Uncertain 20_36962779_C->T 20 36962779 36962779 C T snp 307.77 0/1 99 51 34 17 0.33 intronic rs2275955 BPI AU NM_001725 exon13 c.30218-52C>T 0.109225 0.3621 0.014893 Uncertain 20_36965617_A->G 20 36965617 36965617 A G snp 1352.77 1/1 60 51 1 50 0.98 UTR3 rs1131847 BPI AU 0.652356 0.5486 0.675304 0.6237 0.5296 Uncertain 20_36975084_G->T 20 36975084 36975084 G T snp 2251.77 0/1 99 196 97 99 0.51 intronic rs142875263 LBP AU NM_004139 exon1 c.124+41G>T 0.00139776 0.0069 0.0005 0.0060 Uncertain 20_36989269_C->T 20 36989269 36989269 C T snp 488.77 0/1 99 36 17 19 0.53 intronic rs1780623 LBP AU NM_004139 exon6 c.14438-88C>T 0.397564 0.6905 Uncertain 20_36989302_C->G 20 36989302 36989302 C G snp 517.77 0/1 99 56 30 26 0.46 intronic rs1780624 LBP AU NM_004139 exon6 c.14438-55C>G 0.649161 0.88 0.554972 Uncertain 20_36989381_G->A 20 36989381 36989381 G A snp 570.77 0/1 99 77 47 30 0.39 exonic rs2232596 LBP AU synonymous SNV NM_004139 exon6 c.G612A p.S204S 0.649361 0.8819 0.547901 0.5553 0.8815 Uncertain 20_36989442_C->T 20 36989442 36989442 C T snp 298.77 0/1 99 51 36 15 0.29 intronic rs149908013 LBP AU NM_004139 exon6 c.14502+21C>T 0.000998403 0.005 0.0002 0.0022 Uncertain 20_36992472_G->C 20 36992472 36992472 G C snp 429.77 0/1 99 19 5 14 0.74 intronic rs2232599 LBP AU NM_004139 exon7 c.17709-156G>C 0.0990415 0.0784 Uncertain 20_36992810_G->A 20 36992810 36992810 G A snp 345.77 0/1 90 14 4 10 0.71 intronic rs2232602 LBP AU NM_004139 exon7 c.17801+90G>A 0.0960463 0.0754 Uncertain 20_36993179_G->C 20 36993179 36993179 G C snp 152.77 0/1 99 8 3 5 0.63 intronic rs2232605 LBP AU NM_004139 exon8 c.18310-50G>C 0.0605032 0.0754 0.041366 0.0584 0.0858 Uncertain 20_36995340_C->T 20 36995340 36995340 C T snp 1881.77 1/1 99 75 0 75 1.0 intronic rs1739639 LBP AU NM_004139 exon9 c.20493-72C>T 0.666933 0.9335 Uncertain 20_36995664_A->G 20 36995664 36995664 A G snp 74.77 0/1 99 8 5 3 0.38 intronic rs3819023 LBP AU NM_004139 exon9 c.20553+192A>G 0.0603035 0.0754 Uncertain 20_36997632_T->C 20 36997632 36997632 T C snp 4837.77 1/1 99 173 0 173 1.0 intronic rs1780627 LBP AU NM_004139 exon10 c.22719-6T>C 0.653355 0.8383 0.552976 0.5739 0.8087 Uncertain 20_37001934_T->C 20 37001934 37001934 T C snp 133.03 1/1 12 4 0 4 1.0 intronic rs1739640 LBP AU NM_004139 exon13 c.26860+155T>C 0.65595 0.8452 Uncertain 20_37005536_T->C 20 37005536 37005536 T C snp 2851.77 1/1 99 107 0 107 1.0 UTR3 rs745144 LBP AU 0.772364 0.9891 0.7020 0.9868 0.0 P Uncertain 20_37055875_T->C 20 37055875 37055875 T C snp 447.77 0/1 99 26 12 14 0.54 ncRNA_intronic rs707578 SNHG17 AU 0.674121 0.8056 Uncertain 20_37062583_T->C 20 37062583 37062583 T C snp 3411.77 1/1 99 122 0 122 1.0 ncRNA_exonic rs788347 SNORA71D AU 0.778155 0.8988 0.777293 0.8269 0.9160 Uncertain 20_37121710_T->C 20 37121710 37121710 T C snp 628.77 0/1 99 57 30 27 0.47 exonic rs747580949 RALGAPB AU synonymous SNV NM_001282917 exon3 c.T324C p.V108V 4.12e-05 0.0006 Uncertain 20_37146464_C->T 20 37146464 37146464 C T snp 2597.77 0/1 99 250 139 111 0.44 exonic rs769181953 RALGAPB AU nonsynonymous SNV NM_001282917 exon9 c.C1238T p.T413M 8.238e-05 0.0006 0.1 T 0.955 N -1.085 T 0.608 T 0.085 P Pathogenic 20_37177627_G->C 20 37177627 37177627 G C snp 48.74 1/1 6 2 0 2 1.0 intronic rs17832249 RALGAPB AU NM_001282917 exon20 c.60363+189G>C 0.270767 0.5169 Uncertain 20_37194254_G->A 20 37194254 37194254 G A snp 465.77 1/1 36 13 0 13 1.0 intronic rs2185594 RALGAPB AU NM_001282917 exon25 c.77046+133G>A 0.63099 0.9087 Uncertain 20_37199239_G->A 20 37199239 37199239 G A snp 44.77 0/1 33 3 1 2 0.67 intronic rs74597479 RALGAPB AU NM_001282917 exon28 c.82336-172G>A 0.00459265 0.0228 Uncertain 20_37203484_T->C 20 37203484 37203484 T C snp 2154.77 0/1 99 172 75 97 0.56 exonic rs138886522 RALGAPB AU synonymous SNV NM_001282917 exon30 c.T4359C p.S1453S 0.00459265 0.0228 0.0024 0.0332 Uncertain 20_37203722_T->A 20 37203722 37203722 T A snp 33.77 0/1 62 4 2 2 0.5 UTR3 rs562585884 RALGAPB AU 0.000199681 0.001 Uncertain 20_37230486_C->A 20 37230486 37230486 C A snp 104.28 1/1 9 5 0 5 1.0 upstream rs6070740 ARHGAP40 AU 0.592452 0.8155 Uncertain 20_37257988_C->A 20 37257988 37257988 C A snp 43.77 0/1 72 4 2 2 0.5 intronic rs74801727 ARHGAP40 AU NM_001164431 exon5 c.27559-156C>A 0.00299521 0.0149 Uncertain 20_37274559_-->A 20 37274559 37274559 - A indel 1364.73 0/1 99 68 28 40 0.59 intronic rs11426603 ARHGAP40 AU NM_001164431 exon12 c.44104-130insA Uncertain 20_37274861_A->G 20 37274861 37274861 A G snp 539.77 0/1 99 47 27 20 0.43 intronic rs117796 ARHGAP40 AU NM_001164431 exon12 c.44245+31A>G 0.49381 0.5853 0.5546 0.5450 Uncertain 20_37277153_G->T 20 37277153 37277153 G T snp 289.77 0/1 99 31 18 13 0.42 intronic rs220527 ARHGAP40 AU NM_001164431 exon14 c.46700-132G>T 0.651358 0.5823 Uncertain 20_37277271_C->T 20 37277271 37277271 C T snp 792.77 0/1 99 86 48 38 0.44 intronic rs220526 ARHGAP40 AU NM_001164431 exon14 c.46700-14C>T 0.619209 0.5823 0.608410 0.6214 0.5348 Uncertain 20_37278612_T->A 20 37278612 37278612 T A snp 523.77 0/1 99 62 38 24 0.39 UTR3 rs220522 ARHGAP40 AU 0.661741 0.5804 Uncertain 20_37278823_T->C 20 37278823 37278823 T C snp 130.77 0/1 99 20 14 6 0.3 UTR3 rs220521 ARHGAP40 AU 0.650759 0.5823 Uncertain 20_37278946_T->C 20 37278946 37278946 T C snp 1095.77 0/1 99 114 62 52 0.46 UTR3 rs220520 ARHGAP40 AU 0.705871 0.5942 0.6792 0.5466 Uncertain 20_37279255_C->T 20 37279255 37279255 C T snp 604.77 0/1 99 76 48 28 0.37 UTR3 rs220519 ARHGAP40 AU 0.705471 0.5883 Uncertain 20_37465002_-->T 20 37465002 37465002 - T indel 271.74 1/1 30 16 0 16 1.0 intronic rs3830774 PPP1R16B AU NM_001172735 exon2 c.250+184insT 0.540535 0.5734 Uncertain 20_37524459_T->C 20 37524459 37524459 T C snp 191.77 0/1 58 9 2 7 0.78 intronic rs13042445 PPP1R16B AU NM_001172735 exon4 c.59785+106T>C 0.391773 0.4752 Uncertain 20_37630604_C->T 20 37630604 37630604 C T snp 648.77 0/1 99 58 28 30 0.52 intronic DHX35 AU NM_021931 exon9 c.39475+119C>T Uncertain 20_37650519_G->A 20 37650519 37650519 G A snp 1644.77 0/1 99 146 71 75 0.51 exonic rs74949991 DHX35 AU nonsynonymous SNV NM_001190809 exon15 c.G1441A p.A481T 0.00299521 0.0149 0.0019 0.0244 0.21 T 1 D -1.075 T 0.525 P 0.119 P ID=COSM186838;OCCURENCE=1(large_intestine) Pathogenic 20_39609426_C->T 20 39609426 39609426 C T snp 986.77 0/1 99 84 39 45 0.54 intergenic rs4812473 MAFB AD 0.663938 0.6498 Uncertain 20_39634616_C->T 20 39634616 39634616 C T snp 2084.77 1/1 99 76 0 76 1.0 intergenic rs1000411 MAFB AD 0.302716 0.6657 Uncertain 20_39690342_T->C 20 39690342 39690342 T C snp 40.77 0/1 69 5 3 2 0.4 intronic rs1997833 TOP1 AU NM_003286 exon3 c.32423+212T>C 0.307907 0.3244 Uncertain 20_39713352_A->C 20 39713352 39713352 A C snp 423.77 0/1 79 17 3 14 0.82 intronic rs2076576 TOP1 AU NM_003286 exon8 c.55501+144A>C 0.298722 0.6756 Uncertain 20_39743921_T->G 20 39743921 39743921 T G snp 489.77 0/1 99 35 15 20 0.57 ncRNA_intronic rs6129758 PLCG1-AS1 AU 0.146565 0.2341 Uncertain 20_39788855_A->G 20 39788855 39788855 A G snp 809.77 0/1 99 65 32 33 0.51 intronic rs2076148 PLCG1 AU NM_002660 exon4 c.22512+62A>G 0.635783 0.8056 0.552124 Uncertain 20_39794489_G->A 20 39794489 39794489 G A snp 1301.77 0/1 99 133 77 56 0.42 intronic rs6124323 PLCG1 AU NM_002660 exon16 c.28185+23G>A 0.634784 0.8056 0.568353 0.5458 0.8091 Uncertain 20_39797465_T->C 20 39797465 39797465 T C snp 1690.77 0/1 99 153 77 76 0.5 exonic rs753381 PLCG1 AU nonsynonymous SNV NM_002660 exon21 c.T2438C p.I813T 0.732827 0.8075 0.669306 0.6155 0.8087 1 T 0.001 P -0.938 T 0.0 T 0.0 T Pathogenic 20_39800710_C->T 20 39800710 39800710 C T snp 154.78 0/1 24 6 1 5 0.83 intronic rs2235360 PLCG1 AU NM_002660 exon25 c.34551-122C>T 0.135982 0.2163 Uncertain 20_39974316_A->G 20 39974316 39974316 A G snp 164.77 0/1 99 26 16 10 0.38 intronic rs6129820 LPIN3 AU 0.527756 0.7837 Uncertain 20_39978564_G->T 20 39978564 39978564 G T snp 1251.77 0/1 99 74 23 51 0.69 intronic rs6029646 LPIN3 AU NM_001301860 exon6 c.4091+30G>T 0.536941 0.8056 0.396512 0.3772 0.8124 Uncertain 20_39984711_G->A 20 39984711 39984711 G A snp 819.77 0/1 99 80 44 36 0.45 intronic rs772971884 LPIN3 AU NM_001301860 exon14 c.10231+37G>A 2.505e-05 0.0003 Uncertain 20_40034097_A->G 20 40034097 40034097 A G snp 2415.77 1/1 99 80 0 80 1.0 exonic rs3746543 CHD6 AU synonymous SNV NM_032221 exon37 c.T7284C p.T2428T 0.172724 0.3482 0.075350 0.0937 0.3340 Uncertain 20_40034240_G->A 20 40034240 40034240 G A snp 205.84 1/1 18 6 0 6 1.0 intronic rs41459246 CHD6 AU NM_032221 exon1 c.897+111G>A 0.172524 0.3472 Uncertain 20_40042321_C->T 20 40042321 40042321 C T snp 90.28 1/1 9 3 0 3 1.0 intronic rs2235590 CHD6 AU NM_032221 exon3 c.8923+166C>T 0.142572 0.3105 Uncertain 20_40043913_C->T 20 40043913 40043913 C T snp 4983.77 1/1 99 182 0 182 1.0 exonic rs2235589 CHD6 AU synonymous SNV NM_032221 exon34 c.G6852A p.T2284T 0.128994 0.3125 0.040212 0.0660 0.3077 Uncertain 20_40045573_G->C 20 40045573 40045573 G C snp 247.8 1/1 21 7 0 7 1.0 intronic rs742433 CHD6 AU NM_032221 exon5 c.12202+139G>C 0.389776 0.5357 Uncertain 20_40045821_C->T 20 40045821 40045821 C T snp 962.77 0/1 99 76 38 38 0.5 intronic rs3817888 CHD6 AU NM_032221 exon6 c.12605-16C>T 0.0121805 0.0585 0.0058 0.0730 ID=COSN166525;OCCURENCE=1(haematopoietic_and_lymphoid_tissue) Uncertain 20_40066117_T->A 20 40066117 40066117 T A snp 1333.77 1/1 96 43 0 43 1.0 intronic rs2179452 CHD6 AU NM_032221 exon11 c.32742+143T>A 0.390176 0.5407 Uncertain 20_40076397_C->T 20 40076397 40076397 C T snp 818.77 1/1 60 32 0 32 1.0 intronic rs909883 CHD6 AU NM_032221 exon14 c.43289-124C>T Uncertain 20_40076438_G->A 20 40076438 40076438 G A snp 1642.77 1/1 99 55 0 55 1.0 intronic rs2294569 CHD6 AU NM_032221 exon14 c.43289-83G>A 0.19988 0.3125 Uncertain 20_40079526_C->T 20 40079526 40079526 C T snp 288.77 0/1 99 24 12 12 0.5 intronic CHD6 AU NM_032221 exon15 c.46353-59C>T Uncertain 20_40084399_T->C 20 40084399 40084399 T C snp 300.78 1/1 24 9 0 9 1.0 intronic rs3746540 CHD6 AU NM_032221 exon19 c.51207-40T>C 0.357029 0.5099 0.189220 0.2488 0.4912 Uncertain 20_40116467_C->T 20 40116467 40116467 C T snp 4594.77 1/1 99 166 0 166 1.0 intronic rs4812516 CHD6 AU NM_032221 exon24 c.83216+19C>T 0.284545 0.3254 0.208673 0.1392 0.3067 Uncertain 20_40120211_C->T 20 40120211 40120211 C T snp 553.77 1/1 42 16 0 16 1.0 intronic rs4810321 CHD6 AU NM_032221 exon27 c.87105-126C>T 0.542732 0.7063 Uncertain 20_40126679_T->A 20 40126679 40126679 T A snp 807.77 1/1 60 20 0 20 1.0 intronic rs2294564 CHD6 AU NM_032221 exon31 c.93575-128T>A 0.480431 0.5377 Uncertain 20_40179909_G->A 20 40179909 40179909 G A snp 3221.92 1/1 99 123 0 123 1.0 intronic rs6129863 CHD6 AU NM_032221 exon36 c.146711-34G>A 0.48123 0.5367 0.365826 0.3355 0.5078 Uncertain 20_40179920_C->T 20 40179920 40179920 C T snp 3076.77 1/1 99 114 0 114 1.0 intronic rs6072417 CHD6 AU NM_032221 exon36 c.146711-23C>T 0.472444 0.5367 0.358055 0.3310 0.5089 Uncertain 20_40714592_-->T 20 40714592 40714592 - T indel 55.73 0/1 93 18 6 12 0.67 intronic rs200706584 PTPRT AU NM_007050 exon4 c.4975+99insT 0.223043 0.2312 Uncertain 20_40727000_C->T 20 40727000 40727000 C T snp 329.77 0/1 99 33 18 15 0.45 intronic rs2076251 PTPRT AU NM_007050 exon5 c.17542-60C>T 0.159744 0.2282 Uncertain 20_40733082_C->T 20 40733082 40733082 C T snp 590.77 0/1 99 37 16 21 0.57 intronic rs2076247 PTPRT AU NM_007050 exon7 c.23690-126C>T 0.666733 0.6161 Uncertain 20_40743829_A->G 20 40743829 40743829 A G snp 600.77 0/1 99 62 34 28 0.45 intronic rs2076248 PTPRT AU NM_007050 exon10 c.34320-9A>G 0.55651 0.5258 0.564953 0.5308 0.5473 Uncertain 20_40863182_C->A 20 40863182 40863182 C A snp 433.77 0/1 99 39 20 19 0.49 intronic rs6030076 PTPRT AU NM_007050 exon17 c.155350-1686C>A 0.402756 0.3581 Uncertain 20_40910951_G->A 20 40910951 40910951 G A snp 1246.77 1/1 93 39 0 39 1.0 intronic rs41308707 PTPRT AU NM_007050 exon19 c.201610-177G>A 0.207867 0.1915 Uncertain 20_40979147_C->T 20 40979147 40979147 C T snp 102.77 0/1 99 13 9 4 0.31 intronic rs2071853 PTPRT AU NM_007050 exon21 c.269749-120C>T 0.0896565 0.3373 Uncertain 20_40979160_T->C 20 40979160 40979160 T C snp 743.77 1/1 57 22 0 22 1.0 intronic rs2071854 PTPRT AU NM_007050 exon21 c.269749-107T>C 0.728235 0.9067 Uncertain 20_40979430_C->T 20 40979430 40979430 C T snp 1725.77 1/1 99 61 0 61 1.0 intronic rs929071 PTPRT AU NM_007050 exon21 c.269852+60C>T 0.42512 0.8522 Uncertain 20_41306445_A->G 20 41306445 41306445 A G snp 54.74 1/1 6 2 0 2 1.0 intronic rs2425515 PTPRT AU NM_007050 exon25 c.596987-60A>G 0.266374 0.2252 Uncertain 20_41306600_A->G 20 41306600 41306600 A G snp 1467.77 0/1 99 136 70 66 0.49 exonic rs2425516 PTPRT AU synonymous SNV NM_133170 exon7 c.T1059C p.D353D 0.384784 0.3462 0.381211 0.3785 0.3562 Uncertain 20_41400229_G->A 20 41400229 41400229 G A snp 1686.77 1/1 99 62 0 62 1.0 intronic rs6030462 PTPRT AU NM_007050 exon27 c.690672+39G>A 0.48722 0.501 0.441152 0.4154 0.4954 Uncertain 20_41419718_A->G 20 41419718 41419718 A G snp 214.77 0/1 99 15 8 7 0.47 intronic rs208244 PTPRT AU NM_007050 exon29 c.710316-116A>G 0.446086 0.5377 Uncertain 20_41818289_C->G 20 41818289 41818289 C G snp 99.28 1/1 9 4 0 4 1.0 exonic rs2867655 PTPRT AU nonsynonymous SNV NM_133170 exon1 c.G85C p.A29P 0.711062 0.8393 0.9211 0.7826 0.06 T 0.113 P -1.032 T 0.014 T 0.008 T Pathogenic 20_42089140_T->A 20 42089140 42089140 T A snp 504.77 0/1 99 36 17 19 0.53 intronic rs34934568 SRSF6 AU NM_006275 exon5 c.2481-14T>A 0.147165 0.12 0.247347 0.2516 0.1203 Uncertain 20_42089511_T->C 20 42089511 42089511 T C snp 2842.77 1/1 99 107 2 105 0.98 exonic rs2235611 SRSF6 AU synonymous SNV NM_006275 exon6 c.T843C p.P281P 0.821685 0.6865 0.890435 0.8368 0.6963 Uncertain 20_42163768_C->G 20 42163768 42163768 C G snp 601.77 1/1 45 18 0 18 1.0 intronic rs2071968 L3MBTL1 AU NM_015478 exon13 c.20398+186C>G 0.240415 0.3085 Uncertain 20_42195554_-->GGAC 20 42195554 42195554 - GGAC indel 265.8 1/1 18 6 0 6 1.0 intronic rs10664352 SGK2 AU NM_016276 exon2 c.752-153insGGAC 0.461062 0.4702 Uncertain 20_42195665_C->T 20 42195665 42195665 C T snp 688.77 0/1 99 56 25 31 0.55 intronic rs73620603 SGK2 AU NM_016276 exon2 c.752-42C>T 0.0297524 0.12 0.001230 0.0164 0.1140 Uncertain 20_42199705_GTGT->- 20 42199705 42199708 GTGT - indel 1162.74 1/1 29 24 2 22 0.92 splicing rs11467250 SGK2 AU NM_016276 exon7 c.4745+5_4745+8delGTGT 0.72524 0.754 Pathogenic 20_42199925_G->A 20 42199925 42199925 G A snp 446.77 1/1 33 15 0 15 1.0 intronic rs3127060 SGK2 AU NM_016276 exon7 c.4745+225G>A 0.999601 1 Uncertain 20_42205061_G->A 20 42205061 42205061 G A snp 949.77 1/1 72 29 0 29 1.0 intronic rs763227 SGK2 AU NM_016276 exon10 c.10064+42G>A 0.724241 0.7927 0.714593 0.7604 0.8169 Uncertain 20_42208522_T->G 20 42208522 42208522 T G snp 1348.77 1/1 99 39 0 39 1.0 intronic rs2301483 SGK2 AU NM_016276 exon11 c.13656-89T>G 0.874401 0.8859 Uncertain 20_42225114_G->A 20 42225114 42225114 G A snp 2904.77 1/1 99 100 0 100 1.0 exonic rs2664519 IFT52 AU synonymous SNV NM_001303458 exon3 c.G159A p.V53V 0.744409 0.7927 0.742042 0.7806 0.8183 Uncertain 20_42242700_C->T 20 42242700 42242700 C T snp 1317.77 1/1 96 40 0 40 1.0 intronic rs4473450 IFT52 AU NM_016004 exon7 c.19278+84C>T 0.761182 0.7937 Uncertain 20_42249398_C->T 20 42249398 42249398 C T snp 349.78 1/1 27 9 0 9 1.0 intronic rs1555348 IFT52 AU NM_016004 exon9 c.26158-98C>T 0.872404 0.8145 Uncertain 20_42249479_-->T 20 42249479 42249479 - T indel 1133.73 1/1 99 47 0 47 1.0 intronic rs11483104 IFT52 AU NM_016004 exon9 c.26158-17insT 0.729213 0.7077 0.7236 Uncertain 20_42252325_G->T 20 42252325 42252325 G T snp 86.28 1/1 9 3 0 3 1.0 intronic rs4810390 IFT52 AU NM_016004 exon10 c.29192-205G>T 0.749002 0.7927 Uncertain 20_42264502_G->A 20 42264502 42264502 G A snp 3470.77 1/1 99 126 0 126 1.0 intronic rs6031007 IFT52 AU NM_016004 exon11 c.41227-63G>A 0.7502 0.7937 Uncertain 20_42264726_T->C 20 42264726 42264726 T C snp 897.77 1/1 66 25 0 25 1.0 intronic rs2273523 IFT52 AU NM_016004 exon11 c.41315+73T>C 0.763778 0.7937 Uncertain 20_42265650_A->G 20 42265650 42265650 A G snp 96.28 1/1 9 3 0 3 1.0 intronic rs6017129 IFT52 AU NM_016004 exon12 c.42446-134A>G 0.761581 0.7937 Uncertain 20_42265700_T->C 20 42265700 42265700 T C snp 468.77 1/1 36 13 0 13 1.0 intronic rs6065638 IFT52 AU NM_016004 exon12 c.42446-84T>C 0.873003 0.8145 Uncertain 20_42265966_G->A 20 42265966 42265966 G A snp 59.74 1/1 6 3 0 3 1.0 intronic rs6031008 IFT52 AU NM_016004 exon12 c.42555+73G>A 0.733427 0.7927 Uncertain 20_42271374_T->G 20 42271374 42271374 T G snp 585.77 1/1 45 15 0 15 1.0 intronic rs426197 IFT52 AU NM_016004 exon13 c.47926+110T>G 0.761981 0.7937 Uncertain 20_42275499_G->T 20 42275499 42275499 G T snp 3176.77 1/1 99 92 0 92 1.0 intronic rs393115 IFT52 AU NM_016004 exon14 c.52237-76G>T 0.908147 0.8849 0.879982 Uncertain 20_42302201_C->T 20 42302201 42302201 C T snp 314.78 1/1 24 10 0 10 1.0 intronic rs826949 MYBL2 AU NM_002466 exon2 c.6522-244C>T 0.650359 0.7956 Uncertain 20_42302371_C->T 20 42302371 42302371 C T snp 2833.77 1/1 99 104 0 104 1.0 intronic rs826950 MYBL2 AU NM_002466 exon2 c.6522-74C>T 0.776558 0.7956 0.810429 0.8290 0.8164 Uncertain 20_42310509_T->C 20 42310509 42310509 T C snp 1088.77 1/1 78 42 0 42 1.0 intronic rs442143 MYBL2 AU NM_002466 exon3 c.14572+14T>C 0.825679 0.7966 0.853683 0.8496 0.8232 Uncertain 20_42328639_T->C 20 42328639 42328639 T C snp 1908.77 1/1 99 72 0 72 1.0 exonic rs285162 MYBL2 AU synonymous SNV NM_002466 exon7 c.T906C p.P302P 0.932109 0.8998 0.937183 0.9141 0.9239 Uncertain 20_42328749_A->G 20 42328749 42328749 A G snp 341.78 1/1 27 10 0 10 1.0 intronic rs285163 MYBL2 AU NM_002466 exon7 c.32761+65A>G 0.920327 0.8998 Uncertain 20_42574442_T->C 20 42574442 42574442 T C snp 1290.77 1/1 96 41 0 41 1.0 intronic rs4812769 TOX2 AU NM_001098797 exon2 c.58475-27564T>C 0.810304 0.9683 Uncertain 20_42693650_A->G 20 42693650 42693650 A G snp 170.9 1/1 15 5 0 5 1.0 intronic rs2143495 TOX2 AU NM_001098797 exon6 c.149966+153A>G 0.73143 0.7976 Uncertain 20_42744371_C->T 20 42744371 42744371 C T snp 684.77 0/1 99 49 20 29 0.59 exonic rs768347557 JPH2 AD synonymous SNV NM_020433 exon4 c.G1944A p.A648A 8.423e-06 0 Uncertain 20_42745115_T->G 20 42745115 42745115 T G snp 612.77 0/1 99 34 7 27 0.79 intronic rs6073336 JPH2 AD NM_020433 exon3 c.1591+89T>G 0.522764 0.5526 Uncertain 20_42747247_C->T 20 42747247 42747247 C T snp 805.77 0/1 99 75 41 34 0.45 exonic rs3810510 JPH2 AD nonsynonymous SNV NM_020433 exon3 c.G1186A p.A396T 0.270367 0.3571 0.197140 0.1846 0.3714 0.19 T 1.0 P -1.000 T 0.967 D 0.605 D CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_provided|not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter|criteria_provided\x2c_single_submitter;CLNACC=RCV000125446.1|RCV000172752.1;CLNDSDB=MedGen|MedGen;CLNDSDBID=CN221809|CN169374 Pathogenic 20_42788647_G->A 20 42788647 42788647 G A snp 2067.77 0/1 99 203 107 96 0.47 exonic rs199840543 JPH2 AD synonymous SNV NM_020433 exon2 c.C780T p.A260A 0.00199681 0.0099 0.0020 0.0347 Uncertain 20_42806429_A->T 20 42806429 42806429 A T snp 1272.77 1/1 93 37 0 37 1.0 intronic rs2064381 JPH2 AD NM_175913 exon1 c.11-183A>T 0.647364 0.7659 Uncertain 20_42814837_A->G 20 42814837 42814837 A G snp 48.74 1/1 6 2 0 2 1.0 intronic rs6031441 JPH2 AD NM_020433 exon6 c.71531-129A>G 0.472644 0.4881 Uncertain 20_42814931_T->C 20 42814931 42814931 T C snp 1658.77 1/1 99 47 0 47 1.0 intronic rs6031442 JPH2 AD NM_020433 exon6 c.71531-35T>C 0.862819 0.8194 0.860043 0.8472 0.8307 Uncertain 20_42815190_G->A 20 42815190 42815190 G A snp 6937.77 1/1 99 249 0 249 1.0 exonic rs1883790 JPH2 AD synonymous SNV NM_020433 exon1 c.C156T p.Y52Y 0.854233 0.745 0.866292 0.8450 0.7468 CLINSIG=non-pathogenic;CLNDBN=not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000125441.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Uncertain 20_42891809_C->G 20 42891809 42891809 C G snp 800.77 0/1 99 66 31 35 0.53 intronic rs2293 GDAP1L1 AU NM_001256738 exon4 c.5990-60C>G 0.392372 0.4246 Uncertain 20_42939750_T->C 20 42939750 42939750 T C snp 2897.77 1/1 99 106 0 106 1.0 exonic rs6073401 FITM2 AU synonymous SNV NM_001080472 exon1 c.A39G p.G13G 1 1 1 1 Uncertain 20_42969798_A->G 20 42969798 42969798 A G snp 546.77 0/1 99 30 12 18 0.6 intronic rs3761184 R3HDML AU NM_178491 exon2 c.4038-37A>G 0.233826 0.3562 0.153698 0.2103 0.3772 Uncertain 20_42972275_G->A 20 42972275 42972275 G A snp 152.77 0/1 99 14 8 6 0.43 intronic rs4812826 R3HDML AU NM_178491 exon3 c.6352+126G>A 0.416534 0.4534 Uncertain 20_43034660_T->C 20 43034660 43034660 T C snp 155.77 0/1 99 11 5 6 0.55 intronic rs736824 HNF4A AD NM_001030003 exon2 c.50253-37T>C 0.554712 0.7778 0.436106 0.5017 0.7928 Uncertain 20_43037013_G->A 20 43037013 43037013 G A snp 46.84 0/1 18 3 1 2 0.67 intronic rs11574730 HNF4A AD NM_001030003 exon3 c.51671+898G>A 0.167532 0.1052 Uncertain 20_43090929_-->A 20 43090929 43090929 - A indel 162.73 0/1 87 15 4 11 0.73 intronic rs11482024 C20orf62 AU NM_001287807 exon1 c.398+7insA 0.715056 0.9524 0.5809 0.9345 Uncertain 20_43129545_A->G 20 43129545 43129545 A G snp 40.77 0/1 33 3 1 2 0.67 intronic SERINC3 AU NM_006811 exon2 c.777-168A>G Uncertain 20_43132789_G->A 20 43132789 43132789 G A snp 59.74 1/1 6 3 0 3 1.0 intronic rs933249 SERINC3 AU NM_006811 exon3 c.3700+153G>A 0.998602 1 Uncertain 20_43242991_T->C 20 43242991 43242991 T C snp 46.77 0/1 33 3 1 2 0.67 intronic rs55907227 PKIG AU 0.109225 0.126 Uncertain 20_43246795_TCCAGC->- 20 43246795 43246800 TCCAGC - indel 1269.73 0/1 99 35 18 17 0.49 intronic rs3091951 PKIG AU NM_001281444 exon6 c.3728-130_3728-125delTCCAGC 0.151358 0.0417 Uncertain 20_43246808_C->T 20 43246808 43246808 C T snp 523.77 0/1 99 42 23 19 0.45 intronic rs67308411 PKIG AU NM_001281444 exon6 c.3728-117C>T Uncertain 20_43249591_C->T 20 43249591 43249591 C T snp 265.77 0/1 99 13 5 8 0.62 intronic rs6031678 ADA AR,AO NM_000022 exon3 c.1184-67C>T 0.107029 0.125 Uncertain 20_43251434_C->T 20 43251434 43251434 C T snp 3094.77 0/1 99 246 122 124 0.5 intronic rs6031679 ADA AR,AO NM_000022 exon5 c.2995-35C>T 0.114417 0.125 0.078041 0.0964 0.1131 Uncertain 20_43251767_G->A 20 43251767 43251767 G A snp 268.77 0/1 99 25 16 9 0.36 intronic rs929089 ADA AR,AO NM_000022 exon6 c.3245+48G>A 0.16254 0.128 0.130749 0.1397 0.1152 Uncertain 20_43252915_T->C 20 43252915 43252915 T C snp 1115.77 0/1 99 101 54 47 0.47 exonic rs244076 ADA AR,AO synonymous SNV NM_000022 exon6 c.A534G p.V178V 0.265775 0.1548 0.248578 0.2057 0.1474 Uncertain 20_43254490_A->G 20 43254490 43254490 A G snp 227.84 1/1 18 7 0 7 1.0 intronic rs244074 ADA AR,AO NM_000022 exon8 c.5851+165A>G 1 1 Uncertain 20_43264927_C->T 20 43264927 43264927 C T snp 1526.77 1/1 99 58 0 58 1.0 exonic rs394105 ADA AR,AO synonymous SNV NM_000022 exon2 c.G36A p.V12V 0.982228 1 0.984622 0.9955 1 CLINSIG=non-pathogenic;CLNDBN=Severe_combined_immunodeficiency_disease;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000029300.1;CLNDSDB=MedGen:SNOMED_CT;CLNDSDBID=C0085110:31323000 Uncertain 20_43343908_G->A 20 43343908 43343908 G A snp 210.84 1/1 18 9 0 9 1.0 UTR5 rs1980803 WISP2 AU 0.596845 0.5913 Uncertain 20_43343930_T->G 20 43343930 43343930 T G snp 737.77 1/1 54 23 0 23 1.0 UTR5 rs1980804 WISP2 AU 0.994609 1 Uncertain 20_43348735_C->A 20 43348735 43348735 C A snp 2021.77 0/1 99 151 58 93 0.62 exonic rs2296530 WISP2 AU synonymous SNV NM_003881 exon2 c.C258A p.G86G 0.396166 0.3909 0.362105 0.4637 0.5033 Uncertain 20_43353709_G->C 20 43353709 43353709 G C snp 86.28 1/1 9 3 0 3 1.0 intronic rs6094028 WISP2 AU NM_003881 exon3 c.9602+76G>C 0.994209 1 Uncertain 20_43356156_C->T 20 43356156 43356156 C T snp 695.77 0/1 99 68 39 29 0.43 UTR3 rs1061098 WISP2 AU 0.310104 0.37 Uncertain 20_43378770_A->G 20 43378770 43378770 A G snp 2380.77 1/1 99 89 0 89 1.0 exonic rs1111032 KCNK15 AU nonsynonymous SNV NM_022358 exon2 c.A284G p.E95G 0.606829 0.6657 0.579668 0.5397 0.6838 0.917 P -1.256 T Pathogenic 20_43379264_A->C 20 43379264 43379264 A C snp 2216.77 1/1 99 69 1 68 0.99 exonic rs6073538 KCNK15 AU nonsynonymous SNV NM_022358 exon2 c.A778C p.T260P 0.607228 0.6657 0.537097 0.5347 0.6841 0.23 T 0.0 P -0.986 T Pathogenic 20_43379454_T->C 20 43379454 43379454 T C snp 1657.77 1/1 99 65 0 65 1.0 exonic rs13042905 KCNK15 AU nonsynonymous SNV NM_022358 exon2 c.T968C p.L323P 0.598243 0.6657 0.599961 0.5789 0.7103 0.09 T 0.0 P -0.961 T Pathogenic 20_43559492_G->C 20 43559492 43559492 G C snp 42.77 0/1 33 3 1 2 0.67 intronic rs78333826 PABPC1L AU NM_001124756 exon8 c.20583+125G>C 0.0886581 0.1468 Uncertain 20_43560914_T->C 20 43560914 43560914 T C snp 485.77 0/1 99 43 23 20 0.47 intronic rs3746582 PABPC1L AU NM_001124756 exon9 c.22198-68T>C 0.103834 0.1528 Uncertain 20_43561236_C->T 20 43561236 43561236 C T snp 74.77 0/1 99 8 5 3 0.38 intronic rs6031869 PABPC1L AU NM_001124756 exon9 c.22289+163C>T 0.154752 0.1438 Uncertain 20_43561533_G->A 20 43561533 43561533 G A snp 339.77 0/1 99 41 28 13 0.32 intronic rs2664567 PABPC1L AU NM_001124756 exon10 c.22928-179G>A 0.102835 0.1438 Uncertain 20_43561654_C->T 20 43561654 43561654 C T snp 1746.77 0/1 99 206 125 81 0.39 intronic rs12798 PABPC1L AU NM_001124756 exon10 c.22928-58C>T 0.10004 0.1438 Uncertain 20_43561660_A->G 20 43561660 43561660 A G snp 1801.77 0/1 99 215 132 83 0.39 intronic rs12031 PABPC1L AU NM_001124756 exon10 c.22928-52A>G 0.10004 0.1438 Uncertain 20_43565559_G->C 20 43565559 43565559 G C snp 1369.77 0/1 99 123 58 65 0.53 intronic rs3746583 PABPC1L AU NM_001124756 exon12 c.26587+188G>C 0.105232 0.1429 0.0745 0.1411 0.23 T 0.0 P -1.036 T Uncertain 20_43566518_C->T 20 43566518 43566518 C T snp 86.77 0/1 28 4 1 3 0.75 intronic rs6031872 PABPC1L AU NM_001124756 exon13 c.27917-183C>T 0.0966454 0.1409 Uncertain 20_43566787_A->G 20 43566787 43566787 A G snp 1794.77 0/1 99 152 68 84 0.55 exonic rs11780 PABPC1L AU synonymous SNV NM_001124756 exon13 c.A1731G p.S577S 0.446685 0.3631 0.443981 0.3923 0.3649 0 D 1.000 P -0.952 T Likely benign 20_43566863_G->A 20 43566863 43566863 G A snp 1208.77 0/1 99 84 39 45 0.54 intronic rs2273357 PABPC1L AU NM_001124756 exon13 c.28048+31G>A 0.0964457 0.1379 0.100485 0.0926 0.1458 Uncertain 20_43572217_T->C 20 43572217 43572217 T C snp 504.77 0/1 99 31 11 20 0.65 exonic rs1804644 TOMM34 AU synonymous SNV NM_006809 exon6 c.A702G p.A234A 0.172125 0.1468 0.150853 0.0808 0.1478 Uncertain 20_43577644_C->T 20 43577644 43577644 C T snp 259.77 0/1 99 16 7 9 0.56 intronic rs1884440 TOMM34 AU NM_006809 exon3 c.5769+126C>T 0.508187 0.5536 Uncertain 20_43588802_A->G 20 43588802 43588802 A G snp 596.77 0/1 99 48 25 23 0.48 intronic rs2234200 TOMM34 AU NM_006809 exon7 c.17098-45A>G 0.335863 0.3214 0.227413 0.2657 0.3220 Uncertain 20_43629193_C->T 20 43629193 43629193 C T snp 1504.77 0/1 99 132 67 65 0.49 intronic rs2071834 STK4 AU NM_006282 exon8 c.33952+32C>T 0.0201677 0.0942 0.001538 0.0134 0.1124 Uncertain 20_43703631_G->A 20 43703631 43703631 G A snp 821.77 0/1 99 75 39 36 0.48 intronic rs3746585 STK4 AU NM_006282 exon11 c.108449-27G>A 0.0213658 0.0942 0.002614 0.0120 0.1012 Uncertain 20_43803725_T->A 20 43803725 43803725 T A snp 410.77 0/1 99 22 10 12 0.55 intronic rs1983649 PI3 AU NM_002638 exon1 c.79+83T>A 0.515176 0.5466 Uncertain 20_43804314_A->T 20 43804314 43804314 A T snp 48.74 1/1 6 2 0 2 1.0 intronic rs6032040 PI3 AU NM_002638 exon2 c.938-187A>T 0.815895 0.9058 Uncertain 20_43931857_C->T 20 43931857 43931857 C T snp 31.77 0/1 60 8 6 2 0.25 intronic rs2235228 MATN4 AU NM_030590 exon7 c.10461-1010C>T 0.102037 0.3333 Uncertain 20_43933021_G->T 20 43933021 43933021 G T snp 2076.77 1/1 99 68 2 66 0.97 exonic rs2072788 MATN4 AU nonsynonymous SNV NM_003833 exon4 c.C490A p.R164S 0.395767 0.755 0.242735 0.3755 0.7689 1 T 0.000 P -0.947 T 0.149 T 0.095 T Pathogenic 20_43933163_T->C 20 43933163 43933163 T C snp 5356.77 1/1 99 168 0 168 1.0 exonic rs2233094 MATN4 AU synonymous SNV NM_003833 exon4 c.A348G p.A116A 0.403554 0.755 0.258785 0.3740 0.7631 Uncertain 20_43935649_A->C 20 43935649 43935649 A C snp 45.77 0/1 74 38 22 16 0.42 intronic MATN4 AU NM_030590 exon9 c.14408-1165A>C Uncertain 20_43936664_G->A 20 43936664 43936664 G A snp 1164.77 0/1 99 87 44 43 0.49 intronic MATN4 AU NM_030590 exon9 c.14408-150G>A Uncertain 20_43942676_T->C 20 43942676 43942676 T C snp 2855.77 0/1 99 249 131 118 0.47 exonic rs2076026 RBPJL AU synonymous SNV NM_001281448 exon8 c.T759C p.A253A 0.129593 0.3046 0.026680 0.0882 0.3451 Uncertain 20_43964407_G->C 20 43964407 43964407 G C snp 1248.77 1/1 90 41 0 41 1.0 intronic rs2072791 SDC4 AU NM_002999 exon4 c.8518-14G>C 0.769369 0.9554 0.728049 0.7710 0.9640 Uncertain 20_43964707_-->T 20 43964707 43964707 - T indel 216.73 0/1 99 26 18 8 0.31 intronic rs3830725 SDC4 AU NM_002999 exon4 c.8657+147insT 0.249601 0.4077 Uncertain 20_43976791_G->- 20 43976791 43976791 G - indel 418.73 1/1 33 11 0 11 1.0 intronic rs397701284 SDC4 AU NM_002999 exon5 c.21061-173delG Uncertain 20_43976807_C->T 20 43976807 43976807 C T snp 110.77 0/1 99 11 6 5 0.45 intronic rs2078423 SDC4 AU NM_002999 exon5 c.21061-157C>T 0.311302 0.4216 Uncertain 20_43976869_-->T 20 43976869 43976869 - T indel 775.73 0/1 99 55 33 22 0.4 intronic rs5841587 SDC4 AU NM_002999 exon5 c.21061-95insT 0.310903 0.4196 Uncertain 20_43976876_C->- 20 43976876 43976876 C - indel 1942.73 1/1 99 62 0 62 1.0 intronic rs5841588 SDC4 AU NM_002999 exon5 c.21061-88delC 0.722244 0.9325 Uncertain 20_43976991_A->G 20 43976991 43976991 A G snp 1239.77 0/1 99 169 103 66 0.39 exonic rs2228384 SDC4 AU nonsynonymous SNV NM_002999 exon1 c.T34C p.F12L 0.3123 0.4216 0.280009 0.4449 0.5082 0.72 T 1.000 P -0.934 T 0.0 T 0.0 T Pathogenic 20_43977067_C->- 20 43977067 43977067 C - indel 1078.73 0/1 99 66 28 38 0.58 upstream rs17173360 SDC4 AU 0.204073 0.4683 0.096990 0.1869 0.5182 Uncertain 20_43995880_T->G 20 43995880 43995880 T G snp 509.77 1/1 39 13 0 13 1.0 ncRNA_intronic rs2245717 SYS1-DBNDD2 AU 0.76238 0.5506 Uncertain 20_44002665_C->G 20 44002665 44002665 C G snp 2171.77 1/1 99 76 0 76 1.0 ncRNA_intronic rs2231626 SYS1-DBNDD2 AU 0.753994 0.5476 0.795018 0.7670 0.5399 Uncertain 20_44005936_C->T 20 44005936 44005936 C T snp 2242.77 1/1 99 85 0 85 1.0 exonic rs2231616 TP53TG5 AU nonsynonymous SNV NM_014477 exon3 c.G170A p.R57H 0.201278 0.2897 0.119253 0.1801 0.2795 0.2 T 0.0 P -0.944 T 0.067 T 0.008 T Pathogenic 20_44006601_A->G 20 44006601 44006601 A G snp 99.28 1/1 9 3 0 3 1.0 ncRNA_intronic rs2249728 SYS1-DBNDD2 AU 0.201677 0.2897 Uncertain 20_44034985_G->C 20 44034985 44034985 G C snp 2053.77 1/1 99 58 0 58 1.0 ncRNA_intronic rs2743259 SYS1-DBNDD2 AU 0.235224 0.2867 Uncertain 20_44038574_A->G 20 44038574 44038574 A G snp 3160.77 1/1 99 113 0 113 1.0 exonic rs1127497 DBNDD2 AU nonsynonymous SNV NM_001048225 exon3 c.A586G p.M196V 0.761182 0.5109 0.836022 0.7967 0.5080 0.53 T 0.0 P -1.032 T 0.0 T 0.0 T Pathogenic 20_44047974_G->A 20 44047974 44047974 G A snp 2512.77 0/1 99 250 138 112 0.45 exonic rs80158178 PIGT AR,AD,AO nonsynonymous SNV NM_015937 exon4 c.G533A p.R178Q 0.0139776 0.0198 0.000846 0.0136 0.0249 0.15 T 1 D -0.987 T 1.0 D 0.999 D Pathogenic 20_44048065_-->G 20 44048065 44048065 - G indel 4147.73 0/1 99 248 92 156 0.63 intronic rs3092108 PIGT AR,AD,AO NM_001184728 exon3 c.3239+30insG 0.491852 0.4868 0.1903 Uncertain 20_44049916_-->C 20 44049916 44049916 - C indel 745.73 1/1 63 21 0 21 1.0 intronic rs3092450 PIGT AR,AD,AO NM_001184728 exon8 c.5226-106insC 0.730232 0.505 Uncertain 20_44052992_G->A 20 44052992 44052992 G A snp 3700.77 0/1 99 250 110 140 0.56 exonic rs13217 PIGT AR,AD,AO synonymous SNV NM_015937 exon10 c.G1371A p.T457T 0.274561 0.2411 0.390666 0.4195 0.2536 Uncertain 20_44053069_T->C 20 44053069 44053069 T C snp 7114.77 1/1 99 248 0 248 1.0 intronic rs2741566 PIGT AR,AD,AO NM_001184728 exon9 c.8225+48T>C 0.679712 0.5466 0.746732 0.7293 0.5240 Uncertain 20_44054308_A->C 20 44054308 44054308 A C snp 2557.77 0/1 99 247 146 101 0.41 exonic rs199800874 PIGT AR,AD,AO nonsynonymous SNV NM_015937 exon12 c.A1579C p.N527H 0.000399361 0.002 6.61e-05 0.0009 0 D 1 D 0.357 D 1.0 D 1.0 D Pathogenic 20_44054310_C->T 20 44054310 44054310 C T snp 2527.77 0/1 99 247 146 101 0.41 exonic rs201928497 PIGT AR,AD,AO synonymous SNV NM_015937 exon12 c.C1581T p.N527N 0.000399361 0.002 7.438e-05 0.0009 Uncertain 20_44054349_T->C 20 44054349 44054349 T C snp 6989.77 1/1 99 250 0 250 1.0 exonic rs707577 PIGT AR,AD,AO synonymous SNV NM_015937 exon12 c.T1620C p.Y540Y 0.709665 0.5466 0.774104 0.7391 0.5254 Uncertain 20_44098542_G->A 20 44098542 44098542 G A snp 921.77 0/1 99 66 24 42 0.64 intronic rs75766050 WFDC2 AU NM_006103 exon1 c.79+42G>A 0.067492 0.1617 0.053628 0.0868 0.2502 Uncertain 20_44108894_A->C 20 44108894 44108894 A C snp 46.77 0/1 33 3 1 2 0.67 intronic rs28628698 WFDC2 AU NM_006103 exon3 c.10313+160A>C 0.16853 0.2242 Uncertain 20_44141202_CA->- 20 44141202 44141203 CA - indel 503.73 0/1 99 29 13 16 0.55 UTR3 rs11468934 SPINT3 AU 0.238618 0.3125 Uncertain 20_44170712_C->A 20 44170712 44170712 C A snp 504.77 0/1 99 53 31 22 0.42 UTR3 rs11594 EPPIN AU 0.903954 0.8998 0.886553 Uncertain 20_44184498_A->G 20 44184498 44184498 A G snp 553.77 0/1 99 63 36 27 0.43 exonic rs2272955 WFDC8 AU nonsynonymous SNV NM_130896 exon4 c.T287C p.M96T 0.103435 0.1716 0.093957 0.0736 0.2041 0.86 T 0.0 P -1.053 T 0.001 T 0.001 T Pathogenic 20_44238741_T->G 20 44238741 44238741 T G snp 2283.77 1/1 99 80 0 80 1.0 exonic rs2245898 WFDC9 AU nonsynonymous SNV NM_147198 exon3 c.A80C p.N27T 0.393371 0.4276 0.350454 0.3539 0.4154 0.65 T 0.0 P -0.969 T 0.0 T 0.0 T Pathogenic 20_44259490_G->A 20 44259490 44259490 G A snp 3698.77 1/1 99 137 0 137 1.0 intronic rs1487323 WFDC10A AU NM_080753 exon2 c.1056-18G>A 0.38758 0.4276 0.346148 0.3593 0.4162 Uncertain 20_44259673_G->T 20 44259673 44259673 G T snp 3209.76 1/1 99 114 0 114 1.0 UTR3 rs1487322 WFDC10A AU 0.372604 0.4266 0.340228 0.3389 0.4134 Uncertain 20_44277111_G->A 20 44277111 44277111 G A snp 449.77 1/1 36 12 0 12 1.0 downstream rs10854233 WFDC11 AU 0.389577 0.4425 Uncertain 20_44314609_A->G 20 44314609 44314609 A G snp 3055.77 1/1 99 117 0 117 1.0 exonic rs232729 WFDC10B AU nonsynonymous SNV NM_172006 exon3 c.T23C p.L8P 0.849441 0.998 0.702983 0.7072 0.9986 1 T 0.0 P -0.967 T 0.0 T 0.0 T Pathogenic 20_44331043_C->T 20 44331043 44331043 C T snp 451.77 1/1 36 13 0 13 1.0 intronic rs6032445 WFDC10B AU NM_172131 exon2 c.19667-2092C>T 0.720647 0.9742 Uncertain 20_44333052_A->G 20 44333052 44333052 A G snp 899.77 1/1 66 25 0 25 1.0 intronic rs980984 WFDC10B AU NM_172131 exon2 c.19667-83A>G 0.524361 0.7798 0.377979 0.4325 0.7652 Uncertain 20_44333327_T->- 20 44333327 44333327 T - indel 149.7 0/1 6 21 2 19 0.9 intronic rs11361717 WFDC10B AU NM_172131 exon2 c.19732+127delT 0.564297 0.6815 Uncertain 20_44334394_A->C 20 44334394 44334394 A C snp 269.8 1/1 21 9 0 9 1.0 intronic rs232291 WFDC13 AU NM_172005 exon3 c.3739-107A>C 0.696286 0.7966 Uncertain 20_44334588_C->G 20 44334588 44334588 C G snp 4790.77 1/1 99 197 0 197 1.0 intronic rs232290 WFDC13 AU NM_172005 exon3 c.3804+22C>G 0.694688 0.7966 0.568738 0.5404 0.7855 Uncertain 20_44350931_C->G 20 44350931 44350931 C G snp 4303.77 1/1 99 146 0 146 1.0 upstream rs232262 SPINT4 AU 0.647764 0.7748 Uncertain 20_44352620_G->A 20 44352620 44352620 G A snp 6468.77 1/1 99 240 2 238 0.99 exonic rs6017667 SPINT4 AU nonsynonymous SNV NM_178455 exon2 c.G217A p.G73S 0.519768 0.4742 0.465016 0.4262 0.4873 0 D 0.704 P -0.881 T 1.0 D 1.0 D Pathogenic 20_44352740_G->A 20 44352740 44352740 G A snp 2814.77 1/1 99 96 0 96 1.0 intronic rs1487317 SPINT4 AU NM_178455 exon2 c.1690+44G>A 0.519768 0.4742 0.465342 0.4260 0.4875 Uncertain 20_44354087_G->C 20 44354087 44354087 G C snp 1763.77 1/1 99 58 0 58 1.0 intronic rs6032473 SPINT4 AU NM_178455 exon3 c.3261-180G>C 0.519369 0.4742 Uncertain 20_44354372_G->A 20 44354372 44354372 G A snp 1601.77 1/1 99 48 0 48 1.0 downstream rs6032474 SPINT4 AU 0.519569 0.4742 0.451818 Uncertain 20_44354387_A->C 20 44354387 44354387 A C snp 1195.77 1/1 87 38 0 38 1.0 downstream rs232259 SPINT4 AU 0.69389 0.7798 Uncertain 20_44444545_C->A 20 44444545 44444545 C A snp 1264.77 0/1 99 79 31 48 0.61 exonic rs61760191 UBE2C AU nonsynonymous SNV NM_001281741 exon4 c.C333A p.N111K 0.00199681 0.0099 0.0004 0.0057 0.04 T 1.000 D -0.434 T 0.786 T 0.742 P Pathogenic 20_44470648_-->T 20 44470648 44470648 - T indel 347.73 0/1 99 70 23 47 0.67 UTR3 rs767440655 SNX21 AU 0.0834 0.0331 Uncertain 20_44538427_T->C 20 44538427 44538427 T C snp 1018.77 1/1 75 34 0 34 1.0 intronic rs378114 PLTP AU NM_006227 exon12 c.10731+117T>C 0.673522 0.6171 Uncertain 20_44538484_G->T 20 44538484 44538484 G T snp 1485.77 1/1 99 47 0 47 1.0 intronic rs435306 PLTP AU NM_006227 exon13 c.11001-96G>T 0.672524 0.6171 Uncertain 20_44540178_A->G 20 44540178 44540178 A G snp 2447.77 1/1 99 84 0 84 1.0 intronic rs394643 PLTP AU NM_006227 exon15 c.12523+76A>G 0.51897 0.5893 0.5853 0.6144 Uncertain 20_44578776_A->G 20 44578776 44578776 A G snp 505.77 0/1 99 32 16 16 0.5 intronic rs6065910 ZNF335 AR NM_022095 exon6 c.1117+68A>G 0.860024 0.7758 Uncertain 20_44578844_C->G 20 44578844 44578844 C G snp 499.77 0/1 99 24 9 15 0.63 intronic rs73622634 ZNF335 AR NM_022095 exon7 c.1266-13C>G 0.0798722 0.2262 0.019453 0.0350 0.2283 Uncertain 20_44581348_G->A 20 44581348 44581348 G A snp 963.77 0/1 99 93 49 44 0.47 exonic rs3746504 ZNF335 AR synonymous SNV NM_022095 exon19 c.C2703T p.S901S 0.0922524 0.2262 0.035676 0.0399 0.2287 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000118916.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 20_44586036_G->A 20 44586036 44586036 G A snp 151.77 0/1 99 10 4 6 0.6 intronic rs3746506 ZNF335 AR NM_022095 exon12 c.8633-188G>A 0.616014 0.6855 Uncertain 20_44588109_G->A 20 44588109 44588109 G A snp 838.77 0/1 99 65 33 32 0.49 intronic rs3746507 ZNF335 AR NM_022095 exon14 c.10481+37G>A 0.860224 0.7778 0.946247 0.9004 0.7870 Uncertain 20_44596854_G->A 20 44596854 44596854 G A snp 2583.77 0/1 99 203 90 113 0.56 intronic rs3737063 ZNF335 AR NM_022095 exon25 c.19332-69G>A 0.0666933 0.2292 Uncertain 20_44599839_G->C 20 44599839 44599839 G C snp 879.77 0/1 99 73 35 38 0.52 intronic rs6017715 ZNF335 AR NM_022095 exon27 c.22257-9G>C 0.859824 0.7778 0.954231 0.8938 0.8093 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000118912.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 20_44638352_A->G 20 44638352 44638352 A G snp 165.77 0/1 99 19 12 7 0.37 intronic rs3918250 MMP9 AU NM_004994 exon2 c.939-152A>G 0.0571086 0.1984 Uncertain 20_44638781_A->G 20 44638781 44638781 A G snp 527.77 1/1 39 18 0 18 1.0 intronic rs3918251 MMP9 AU NM_004994 exon2 c.1172+44A>G 0.49381 0.6637 0.313272 0.4881 0.6786 Uncertain 20_44638967_-->ACAAACAAAC 20 44638967 44638967 - ACAAACAAAC indel 670.84 1/1 16 7 1 6 0.86 intronic rs759197259 MMP9 AU NM_004994 exon3 c.1556-154insACAAACAAAC Uncertain 20_44638971_A->C 20 44638971 44638971 A C snp 311.18 0/1 10 10 1 9 0.9 intronic rs79845319 MMP9 AU NM_004994 exon3 c.1556-150A>C 0.208267 0.3145 Uncertain 20_44639692_G->T 20 44639692 44639692 G T snp 2551.77 0/1 99 212 111 101 0.48 splicing rs2274755 MMP9 AU NM_004994 exon4 c.2124+3G>T 0.186102 0.1567 0.147778 0.1583 0.1373 ID=CS062075;DIS=Asthma, atopic, association with;TAG=DP;PUB=16631427 DP Pathogenic 20_44640225_A->G 20 44640225 44640225 A G snp 4114.77 1/1 99 163 2 161 0.99 exonic rs17576 MMP9 AU nonsynonymous SNV NM_004994 exon6 c.A836G p.Q279R 0.455471 0.7391 0.347839 0.3920 0.7378 0.28 T 0.012 P -1.052 T 0.004 T 0.01 T ID=CM062877;DIS=Arterial stiffness, association with;TAG=DP;PUB=16709939 DP Pathogenic 20_44640391_C->T 20 44640391 44640391 C T snp 195.77 0/1 99 29 20 9 0.31 splicing rs3918254 MMP9 AU NM_004994 exon6 c.2821+5C>T 0.0708866 0.1964 0.022759 0.0333 0.2328 Pathogenic 20_44642406_G->C 20 44642406 44642406 G C snp 1745.77 1/1 99 63 0 63 1.0 exonic rs2250889 MMP9 AU nonsynonymous SNV NM_004994 exon10 c.G1721C p.R574P 0.830272 0.7718 0.919960 0.8839 0.7724 1 T 0.0 P -1.031 T 0.0 T 0.0 T ID=CM064121;DIS=Leukemia, risk, association with;TAG=DP;PUB=16574953 DP Pathogenic 20_44642833_A->C 20 44642833 44642833 A C snp 569.77 0/1 99 57 29 28 0.49 exonic rs13969 MMP9 AU synonymous SNV NM_004994 exon11 c.A1821C p.G607G 0.40595 0.2292 0.599577 0.4708 0.3086 Uncertain 20_44643111_G->A 20 44643111 44643111 G A snp 1855.77 0/1 99 164 81 83 0.51 exonic rs17577 MMP9 AU nonsynonymous SNV NM_004994 exon12 c.G2003A p.R668Q 0.190895 0.1637 0.131419 0.2158 0.1475 0.85 T 0.0 P -0.940 T 0.01 T 0.001 T ID=CM061854;DIS=Asthma, atopic, association with;TAG=DP;PUB=16631427 DP Pathogenic 20_44644965_G->A 20 44644965 44644965 G A snp 1564.77 0/1 99 173 102 71 0.41 exonic rs13925 MMP9 AU synonymous SNV NM_004994 exon13 c.G2082A p.V694V 0.165136 0.1637 0.141858 0.1489 0.1384 Uncertain 20_44645153_T->C 20 44645153 44645153 T C snp 63.78 0/1 24 4 1 3 0.75 UTR3 rs9509 MMP9 AU 0.163738 0.2192 Uncertain 20_44673546_C->G 20 44673546 44673546 C G snp 2295.77 0/1 99 172 89 83 0.48 intronic rs2297197 SLC12A5 AR,AD NM_020708 exon12 c.15621-58C>G 0.23742 0.2976 Uncertain 20_44674743_A->C 20 44674743 44674743 A C snp 1454.77 0/1 99 119 63 56 0.47 intronic rs2297199 SLC12A5 AR,AD NM_020708 exon13 c.16652+108A>C 0.485823 0.6022 Uncertain 20_44675136_T->C 20 44675136 44675136 T C snp 823.77 1/1 60 27 0 27 1.0 intronic rs3848727 SLC12A5 AR,AD NM_020708 exon14 c.17092+61T>C 0.986022 1 Uncertain 20_44678348_G->A 20 44678348 44678348 G A snp 2961.77 1/1 99 106 0 106 1.0 exonic rs6032635 SLC12A5 AR,AD synonymous SNV NM_020708 exon17 c.G2100A p.A700A 0.986022 1 0.983469 0.9956 1 Uncertain 20_44680412_C->T 20 44680412 44680412 C T snp 1404.77 0/1 99 142 74 68 0.48 exonic rs3746522 SLC12A5 AR,AD synonymous SNV NM_020708 exon18 c.C2280T p.S760S 0.172923 0.3393 0.166923 0.1969 0.3003 Uncertain 20_44691350_T->G 20 44691350 44691350 T G snp 2142.77 0/1 99 184 98 86 0.47 exonic rs1537028 NCOA5 AU synonymous SNV NM_020967 exon8 c.A1329C p.T443T 0.398562 0.5675 0.301015 0.3724 0.5907 Uncertain 20_44693947_T->C 20 44693947 44693947 T C snp 296.77 0/1 99 20 9 11 0.55 intronic rs2903908 NCOA5 AU NM_020967 exon3 c.2929+80T>C 0.229034 0.3631 Uncertain 20_44746982_T->C 20 44746982 44746982 T C snp 594.77 0/1 99 52 28 24 0.46 UTR5 rs1883832 CD40 AR 0.771166 0.5675 0.803014 0.7527 0.5871 ID=CR052074;DIS=Graves' disease, association with;TAG=DFP;PUB=15731360 DFP Uncertain 20_44755111_G->T 20 44755111 44755111 G T snp 633.77 0/1 99 43 20 23 0.53 intronic rs3746821 CD40 AR NM_001250 exon6 c.8296-167G>T 0.181909 0.4157 Uncertain 20_44756891_G->A 20 44756891 44756891 G A snp 660.77 0/1 99 73 39 34 0.47 intronic rs3765456 CD40 AR NM_001250 exon7 c.9881+28G>A 0.182308 0.4177 0.113947 0.1409 0.4206 Uncertain 20_44757407_G->A 20 44757407 44757407 G A snp 2117.77 0/1 99 180 89 91 0.51 intronic rs3765459 CD40 AR NM_001250 exon9 c.10538-113G>A 0.1875 0.3135 0.4147 0.4825 Uncertain 20_44762385_C->T 20 44762385 44762385 C T snp 415.77 0/1 99 40 22 18 0.45 intergenic rs57147349 CD40 AR 0.189297 0.4177 Uncertain 20_44806628_G->A 20 44806628 44806628 G A snp 1647.77 0/1 99 130 58 72 0.55 exonic rs73598378 CDH22 AU synonymous SNV NM_021248 exon11 c.C1872T p.P624P 0.014377 0.0595 0.000308 0.0082 0.0667 Uncertain 20_44806875_G->A 20 44806875 44806875 G A snp 1357.77 0/1 99 113 58 55 0.49 intronic rs2281335 CDH22 AU NM_021248 exon2 c.3692+39G>A 0.236621 0.1865 0.250038 0.2728 0.1749 Uncertain 20_44815762_A->G 20 44815762 44815762 A G snp 46.78 0/1 27 4 1 3 0.75 intronic rs2248597 CDH22 AU NM_021248 exon4 c.12442+176A>G 0.379992 0.378 Uncertain 20_44839322_G->C 20 44839322 44839322 G C snp 222.77 0/1 99 12 5 7 0.58 intronic rs2425785 CDH22 AU NM_021248 exon6 c.36055+123G>C 0.388379 0.2728 Uncertain 20_44856463_G->A 20 44856463 44856463 G A snp 459.77 1/1 36 13 0 13 1.0 intronic rs733379 CDH22 AU NM_021248 exon9 c.53122+197G>A 0.332668 0.2758 Uncertain 20_44979641_T->G 20 44979641 44979641 T G snp 968.77 1/1 72 29 0 29 1.0 intronic rs4810503 SLC35C2 AU NM_015945 exon2 c.497+112T>G 0.994808 1 Uncertain 20_44979642_A->C 20 44979642 44979642 A C snp 984.77 1/1 72 29 0 29 1.0 intronic rs4810504 SLC35C2 AU NM_015945 exon2 c.497+113A>C 0.994808 1 Uncertain 20_44985307_T->G 20 44985307 44985307 T G snp 2351.77 1/1 99 87 0 87 1.0 intronic rs911435 SLC35C2 AU NM_015945 exon7 c.6244+31T>G 0.994609 1 0.994077 0.9982 0.9999 Uncertain 20_44996182_A->G 20 44996182 44996182 A G snp 3108.77 1/1 99 116 0 116 1.0 exonic rs2257495 ELMO2 AR synonymous SNV NM_182764 exon21 c.T1980C p.D660D 0.985024 1 0.981701 0.9950 0.9999 Uncertain 20_44996254_C->A 20 44996254 44996254 C A snp 2011.77 1/1 99 69 0 69 1.0 intronic rs2297058 ELMO2 AR NM_133171 exon1 c.201+55C>A 0.167532 0.1974 Uncertain 20_44997702_C->T 20 44997702 44997702 C T snp 264.8 1/1 21 9 0 9 1.0 intronic rs2297055 ELMO2 AR NM_133171 exon2 c.1609+95C>T Uncertain 20_44998791_C->T 20 44998791 44998791 C T snp 2840.77 1/1 99 100 0 100 1.0 intronic rs2261964 ELMO2 AR NM_133171 exon3 c.3083-290C>T 0.994209 1 0.9989 1 Uncertain 20_44999028_T->C 20 44999028 44999028 T C snp 6180.77 1/1 99 213 0 213 1.0 intronic rs3818608 ELMO2 AR NM_133171 exon3 c.3083-53T>C 0.0876597 0.1974 0.056505 0.0715 0.1732 Uncertain 20_44999277_A->G 20 44999277 44999277 A G snp 2514.77 1/1 99 72 0 72 1.0 intronic rs2297054 ELMO2 AR NM_133171 exon3 c.3166+113A>G 0.167532 0.1974 Uncertain 20_44999958_A->G 20 44999958 44999958 A G snp 2503.77 1/1 99 92 0 92 1.0 intronic rs6090483 ELMO2 AR NM_133171 exon4 c.3992-32A>G 0.168131 0.1974 0.145241 0.0967 0.1740 Uncertain 20_45000132_C->T 20 45000132 45000132 C T snp 1839.77 0/1 99 178 95 83 0.47 intronic rs147623211 ELMO2 AR NM_133171 exon4 c.4100+34C>T 0.00179712 0.0079 0.0009 0.0118 Uncertain 20_45000422_G->C 20 45000422 45000422 G C snp 2673.77 1/1 99 88 0 88 1.0 intronic rs2297052 ELMO2 AR NM_133171 exon6 c.4446-22G>C 0.167332 0.1974 0.144010 0.0955 0.1722 Uncertain 20_45002952_G->- 20 45002952 45002952 G - indel 1136.73 1/1 87 29 0 29 1.0 intronic rs76979752 ELMO2 AR NM_133171 exon8 c.6972-18delG 0.144888 0.0956 0.1734 Uncertain 20_45003326_A->G 20 45003326 45003326 A G snp 977.77 1/1 72 31 0 31 1.0 intronic rs2261213 ELMO2 AR NM_133171 exon9 c.7281+47A>G 0.997804 1 0.997078 0.9992 1 Uncertain 20_45005430_T->C 20 45005430 45005430 T C snp 3337.77 1/1 99 112 0 112 1.0 intronic rs6094286 ELMO2 AR NM_133171 exon11 c.8431+1001T>C 0.167532 0.1974 Uncertain 20_45023247_T->C 20 45023247 45023247 T C snp 475.77 1/1 36 15 0 15 1.0 intronic rs2274676 ELMO2 AR NM_133171 exon20 c.27173+76T>C 0.317093 0.2679 Uncertain 20_45023286_C->T 20 45023286 45023286 C T snp 225.84 1/1 18 7 0 7 1.0 intronic rs2274675 ELMO2 AR NM_133171 exon20 c.27173+115C>T 0.206869 0.253 Uncertain 20_45130043_T->C 20 45130043 45130043 T C snp 330.77 0/1 99 23 11 12 0.52 exonic rs76796362 ZNF334 AU synonymous SNV NM_018102 exon5 c.A1935G p.E645E 0.00339457 0.0159 0.0016 0.0217 Uncertain 20_45140681_T->A 20 45140681 45140681 T A snp 1548.77 0/1 99 151 85 66 0.44 intronic rs117852116 ZNF334 AU NM_001270497 exon5 c.10786-39T>A 0.0167732 0.0605 0.001615 0.0098 0.0639 ID=COSN166549;OCCURENCE=1(haematopoietic_and_lymphoid_tissue) Uncertain 20_45173856_G->C 20 45173856 45173856 G C snp 2467.77 1/1 99 90 2 88 0.98 intronic rs6017908 OCSTAMP AU NM_080721 exon2 c.4053-109G>C 0.171326 0.1954 Uncertain 20_45188971_C->A 20 45188971 45188971 C A snp 1173.77 1/1 87 36 0 36 1.0 intronic rs910062 SLC13A3 AU NM_022829 exon1 c.177+134C>A 0.535543 0.5437 Uncertain 20_45192254_G->A 20 45192254 45192254 G A snp 316.78 1/1 24 12 0 12 1.0 intronic rs6011986 SLC13A3 AU NM_022829 exon2 c.3530+64G>A 0.504393 0.5397 Uncertain 20_45195274_C->A 20 45195274 45195274 C A snp 1305.77 1/1 99 37 0 37 1.0 intronic rs56923216 SLC13A3 AU NM_022829 exon3 c.6369+245C>A 0.254193 0.3056 Uncertain 20_45204266_G->A 20 45204266 45204266 G A snp 3617.77 1/1 99 140 0 140 1.0 exonic rs1880898 SLC13A3 AU synonymous SNV NM_001193339 exon9 c.C1128T p.P376P 0.553914 0.5625 0.588728 0.6221 0.5807 Uncertain 20_45358145_T->G 20 45358145 45358145 T G snp 1499.77 1/1 99 59 0 59 1.0 intronic rs2425906 SLC2A10 AR NM_030777 exon4 c.19752+18T>G 0.378794 0.5952 0.347893 0.4097 0.5967 CLINSIG=non-pathogenic;CLNDBN=not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000128128.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Uncertain 20_45358223_C->T 20 45358223 45358223 C T snp 431.77 1/1 33 15 0 15 1.0 intronic rs2425907 SLC2A10 AR NM_030777 exon4 c.19752+96C>T 0.378794 0.5952 Uncertain 20_45629941_G->A 20 45629941 45629941 G A snp 410.77 0/1 99 41 25 16 0.39 intronic rs3746492 EYA2 AU NM_172110 exon3 c.11417-125G>A 0.422324 0.3056 Uncertain 20_45630157_T->G 20 45630157 45630157 T G snp 592.77 0/1 99 50 26 24 0.48 intronic rs6094549 EYA2 AU NM_172110 exon3 c.11463+45T>G 0.216254 0.1756 0.326234 0.3336 0.1903 Uncertain 20_45725959_A->G 20 45725959 45725959 A G snp 667.77 0/1 99 47 23 24 0.51 intronic rs947018 EYA2 AU NM_172110 exon9 c.107158+152A>G 0.609625 0.629 Uncertain 20_45771617_G->A 20 45771617 45771617 G A snp 261.77 0/1 99 29 20 9 0.31 intronic rs3818914 EYA2 AU NM_172110 exon10 c.153048-80G>A 0.0523163 0.1508 Uncertain 20_45771894_C->T 20 45771894 45771894 C T snp 1250.77 0/1 99 86 38 48 0.56 intronic rs76573627 EYA2 AU NM_172110 exon10 c.153138+107C>T 0.0523163 0.1508 Uncertain 20_45795744_T->C 20 45795744 45795744 T C snp 644.77 0/1 99 64 37 27 0.42 intronic rs3091782 EYA2 AU NM_172110 exon11 c.179137-2042T>C 0.388578 0.4891 0.3772 0.4062 Uncertain 20_45795823_G->A 20 45795823 45795823 G A snp 310.77 0/1 99 20 9 11 0.55 intronic EYA2 AU NM_172110 exon11 c.179137-1963G>A Uncertain 20_45795855_A->G 20 45795855 45795855 A G snp 112.77 0/1 99 13 8 5 0.38 intronic rs3092020 EYA2 AU NM_172110 exon11 c.179137-1931A>G 0.426518 0.4891 Uncertain 20_45797639_G->A 20 45797639 45797639 G A snp 211.77 0/1 90 11 3 8 0.73 intronic rs3092400 EYA2 AU NM_172110 exon11 c.179137-147G>A 0.427716 0.496 Uncertain 20_45797750_TC->- 20 45797750 45797751 TC - indel 1905.73 0/1 99 105 49 56 0.53 intronic rs35639959 EYA2 AU NM_172110 exon11 c.179137-36_179137-35delTC 0.3675 0.4003 Uncertain 20_45797883_C->T 20 45797883 45797883 C T snp 1777.77 0/1 99 151 76 75 0.5 intronic rs3091653 EYA2 AU NM_172110 exon11 c.179196+38C>T 0.434704 0.496 0.396740 0.4695 0.4594 Uncertain 20_45797954_T->A 20 45797954 45797954 T A snp 864.77 0/1 99 71 37 34 0.48 intronic rs3091593 EYA2 AU NM_172110 exon11 c.179196+109T>A 0.438698 0.5109 Uncertain 20_45798014_C->G 20 45798014 45798014 C G snp 364.77 0/1 99 26 15 11 0.42 intronic rs3091985 EYA2 AU NM_172110 exon11 c.179196+169C>G 0.444289 0.5198 Uncertain 20_45801553_A->G 20 45801553 45801553 A G snp 1143.77 0/1 99 113 62 51 0.45 intronic rs3746491 EYA2 AU NM_172110 exon12 c.182866+38A>G 0.0553115 0.1895 0.014378 0.0198 0.1682 Uncertain 20_45801716_C->T 20 45801716 45801716 C T snp 56.74 1/1 6 2 0 2 1.0 intronic rs3746489 EYA2 AU NM_172110 exon12 c.182866+201C>T 0.563498 0.501 Uncertain 20_45808227_A->T 20 45808227 45808227 A T snp 117.77 0/1 56 6 2 4 0.67 intronic rs62201430 EYA2 AU NM_005244 exon13 c.189796-218A>T 0.577077 0.5109 Uncertain 20_45809652_A->G 20 45809652 45809652 A G snp 131.77 0/1 99 17 11 6 0.35 intronic rs2235907 EYA2 AU NM_005244 exon14 c.190935+68A>G 0.569089 0.5119 Uncertain 20_45811788_G->T 20 45811788 45811788 G T snp 135.03 1/1 12 5 1 4 0.8 intronic rs8124995 EYA2 AU NM_172110 exon13 c.193289-150G>T 0.565895 0.5119 Uncertain 20_45811860_A->G 20 45811860 45811860 A G snp 825.77 0/1 99 49 19 30 0.61 intronic rs8124918 EYA2 AU NM_172110 exon13 c.193289-78A>G 0.564097 0.5119 Uncertain 20_45816562_A->G 20 45816562 45816562 A G snp 342.77 0/1 99 16 5 11 0.69 intronic rs3818010 EYA2 AU NM_172110 exon14 c.198051-138A>G 0.567891 0.5139 Uncertain 20_45816566_A->G 20 45816566 45816566 A G snp 372.77 0/1 99 17 6 11 0.65 intronic rs3818011 EYA2 AU NM_172110 exon14 c.198051-134A>G 0.567891 0.5139 Uncertain 20_45816639_A->G 20 45816639 45816639 A G snp 1127.77 0/1 99 99 48 51 0.52 intronic rs3818013 EYA2 AU NM_172110 exon14 c.198051-61A>G 0.567692 0.5139 Uncertain 20_45816649_C->T 20 45816649 45816649 C T snp 1437.77 0/1 99 115 54 61 0.53 intronic rs3818014 EYA2 AU NM_172110 exon14 c.198051-51C>T 0.567692 0.5139 0.580048 Uncertain 20_45816757_C->T 20 45816757 45816757 C T snp 2097.77 0/1 99 194 102 92 0.47 exonic rs3818015 EYA2 AU synonymous SNV NM_172110 exon14 c.C1356T p.H452H 0.135783 0.2024 0.076651 0.0874 0.2633 ID=COSM4134607;OCCURENCE=1(thyroid) Uncertain 20_45853037_A->G 20 45853037 45853037 A G snp 4887.77 1/1 99 182 0 182 1.0 exonic rs2664544 ZMYND8 AU synonymous SNV NM_001281771 exon18 c.T2733C p.T911T 0.896366 0.9435 0.880286 0.8668 0.9361 1.0 P Uncertain 20_45856045_A->G 20 45856045 45856045 A G snp 2083.77 1/1 99 70 0 70 1.0 intronic rs1124178 ZMYND8 AU NM_001281779 exon6 c.16619+21A>G 0.895966 0.9425 0.880286 0.8667 0.9313 Uncertain 20_45858301_G->A 20 45858301 45858301 G A snp 267.77 0/1 99 24 15 9 0.38 intronic rs11086201 ZMYND8 AU NM_001281779 exon7 c.19066-170G>A 0.066893 0.1756 Uncertain 20_45858421_C->T 20 45858421 45858421 C T snp 2024.77 0/1 99 188 97 91 0.48 intronic rs3746488 ZMYND8 AU NM_001281779 exon7 c.19066-50C>T 0.058107 0.1756 0.016377 0.0219 0.1689 Uncertain 20_45867852_A->G 20 45867852 45867852 A G snp 1131.77 0/1 99 85 42 43 0.51 exonic rs2275801 ZMYND8 AU nonsynonymous SNV NM_001281781 exon14 c.T2099C p.V700A 0.327476 0.247 0.225127 0.1457 0.2392 1 T 0.000 P -0.931 T 0.0 T 0.001 T Pathogenic 20_45875385_T->C 20 45875385 45875385 T C snp 624.77 0/1 99 31 12 19 0.61 intronic rs3746486 ZMYND8 AU NM_001281779 exon10 c.35856+124T>C 0.0443291 0.1756 Uncertain 20_45905651_T->C 20 45905651 45905651 T C snp 138.77 0/1 99 19 11 8 0.42 intronic rs3746485 ZMYND8 AU NM_001281779 exon13 c.66134+112T>C 0.433107 0.4514 Uncertain 20_45911121_A->G 20 45911121 45911121 A G snp 81.77 0/1 30 4 1 3 0.75 intronic rs2235588 ZMYND8 AU NM_001281779 exon14 c.71556+160A>G 0.382588 0.3284 Uncertain 20_45923383_G->T 20 45923383 45923383 G T snp 2942.77 0/1 99 250 126 124 0.5 intronic rs2076402 ZMYND8 AU NM_001281779 exon20 c.84004-26G>T 0.551518 0.5625 0.561818 0.5603 0.5718 Uncertain 20_45978592_A->- 20 45978592 45978592 A - indel 1764.73 0/1 99 167 93 74 0.44 intronic rs397865262 ZMYND8 AU NM_001281772 exon22 c.139199-12delA 0.304712 0.1121 0.1547 0.1212 Uncertain 20_46267950_C->T 20 46267950 46267950 C T snp 2734.77 1/1 99 89 0 89 1.0 splicing rs4810648 NCOA3 AU NM_001174087 exon14 c.16955+4C>T 0.978435 1 0.940634 0.9411 1 Pathogenic 20_46279613_G->A 20 46279613 46279613 G A snp 119.77 0/1 99 23 18 5 0.22 intronic rs2745724 NCOA3 AU NM_006534 exon20 c.28734-112G>A 0.440096 0.3065 Uncertain 20_46279860_-->CAA 20 46279860 46279860 - CAA indel 3210.73 0/1 99 132 63 69 0.52 exonic rs753491875 NCOA3 AU nonframeshift insertion NM_181659 exon20 c.3786_3787insCAA p.Q1262delinsQQ 0.0079 0.0086 Uncertain 20_46287012_C->G 20 46287012 46287012 C G snp 1954.77 1/1 99 54 0 54 1.0 UTR3 rs444271 SULF2 AU 0.942692 0.9544 Uncertain 20_46288566_T->G 20 46288566 46288566 T G snp 484.77 0/1 99 49 26 23 0.47 intronic rs2294891 SULF2 AU NM_001161841 exon3 c.1369+92T>G 0.400958 0.5972 Uncertain 20_46294725_C->T 20 46294725 46294725 C T snp 2871.77 0/1 99 229 104 125 0.55 intronic rs2076545 SULF2 AU NM_001161841 exon9 c.7592+28C>T 0.407348 0.5546 0.391358 0.4354 0.5564 Uncertain 20_46300796_C->T 20 46300796 46300796 C T snp 41.77 0/1 70 4 2 2 0.5 intronic rs1105425 SULF2 AU NM_001161841 exon11 c.13836-145C>T 0.643371 0.756 Uncertain 20_46300805_A->G 20 46300805 46300805 A G snp 178.9 1/1 15 6 0 6 1.0 intronic rs1105424 SULF2 AU NM_001161841 exon11 c.13836-136A>G 0.905551 0.8869 Uncertain 20_46311719_-->G 20 46311719 46311719 - G indel 3946.73 0/1 99 250 117 133 0.53 intronic rs3215941 SULF2 AU NM_001161841 exon15 c.24632-18insG 0.146166 0.131 0.1323 0.1283 Uncertain 20_46365359_T->C 20 46365359 46365359 T C snp 369.77 1/1 30 11 0 11 1.0 intronic rs6063143 SULF2 AU NM_001161841 exon19 c.78341-87T>C 0.448882 0.3482 Uncertain 20_46365571_A->G 20 46365571 46365571 A G snp 4444.77 1/1 99 167 0 167 1.0 exonic rs3810526 SULF2 AU synonymous SNV NM_001161841 exon3 c.T291C p.T97T 0.655751 0.625 0.668768 0.6142 0.6408 Uncertain 20_47247365_C->T 20 47247365 47247365 C T snp 567.77 0/1 99 40 16 24 0.6 intronic rs3810533 PREX1 AU NM_020820 exon5 c.4910+33C>T 0.0565096 0.2391 0.001384 0.0279 0.2544 Uncertain 20_47251366_G->T 20 47251366 47251366 G T snp 1392.77 0/1 99 134 67 67 0.5 intronic rs74442232 PREX1 AU NM_020820 exon8 c.8891+53G>T 0.175919 0.0823 Uncertain 20_47253150_T->C 20 47253150 47253150 T C snp 4823.77 1/1 99 183 0 183 1.0 exonic rs2664521 PREX1 AU nonsynonymous SNV NM_020820 exon32 c.A4018G p.K1340E 0.991613 1 0.981324 0.9775 1 1 T 0.017 P -0.953 T 0.0 T 0.0 T Pathogenic 20_47256300_C->T 20 47256300 47256300 C T snp 211.77 0/1 99 36 23 13 0.36 splicing rs6019339 PREX1 AU NM_020820 exon11 c.13881-3C>T 0.367212 0.2262 0.344533 0.3013 0.2057 Pathogenic 20_47258573_A->G 20 47258573 47258573 A G snp 1293.77 0/1 99 76 32 44 0.58 intronic PREX1 AU NM_020820 exon12 c.16283-132A>G Uncertain 20_47260936_A->G 20 47260936 47260936 A G snp 2238.77 0/1 99 178 83 95 0.53 intronic rs6019344 PREX1 AU NM_020820 exon14 c.18524-10A>G 0.613019 0.4435 0.560049 0.5153 0.4153 Uncertain 20_47262549_C->T 20 47262549 47262549 C T snp 1910.77 0/1 99 149 62 87 0.58 exonic rs6012504 PREX1 AU nonsynonymous SNV NM_020820 exon26 c.G3352A p.A1118T 0.170527 0.0873 0.150085 0.0958 0.0805 0.25 T 0.0 P -0.931 T 0.009 T 0.004 T Pathogenic 20_47269874_C->T 20 47269874 47269874 C T snp 830.77 0/1 99 78 44 34 0.44 intronic rs742643 PREX1 AU NM_020820 exon21 c.27476-24C>T 0.175519 0.0893 0.155774 0.0986 0.0808 Uncertain 20_47272963_-->C 20 47272963 47272963 - C indel 7237.73 1/1 99 173 0 173 1.0 intronic rs3091871 PREX1 AU NM_020820 exon23 c.31155-614insC 1 1 Uncertain 20_47305109_-->A 20 47305109 47305109 - A indel 244.73 0/1 99 19 11 8 0.42 intronic rs11086260 PREX1 AU NM_020820 exon31 c.62772-85insA 0.267173 0.0982 Uncertain 20_47307618_G->A 20 47307618 47307618 G A snp 1534.77 0/1 99 139 72 67 0.48 exonic rs3746820 PREX1 AU synonymous SNV NM_020820 exon9 c.C1053T p.N351N 0.285144 0.0962 0.288559 0.2035 0.0882 Uncertain 20_47317276_C->G 20 47317276 47317276 C G snp 191.77 0/1 99 13 4 9 0.69 intronic rs35913794 PREX1 AU NM_020820 exon34 c.74868-14C>G 0.269369 0.0952 0.273643 0.2005 0.0873 Uncertain 20_47317567_C->T 20 47317567 47317567 C T snp 155.77 0/1 99 9 3 6 0.67 intronic rs12624769 PREX1 AU NM_020820 exon34 c.75002+143C>T 0.0159744 0.0784 Uncertain 20_47569112_C->A 20 47569112 47569112 C A snp 431.77 1/1 33 12 0 12 1.0 intronic rs2295030 ARFGEF2 AR NM_006420 exon5 c.30815-129C>A 0.288139 0.4812 Uncertain 20_47585532_A->G 20 47585532 47585532 A G snp 93.28 1/1 9 3 0 3 1.0 intronic rs3764684 ARFGEF2 AR NM_006420 exon9 c.47257-151A>G 0.290735 0.4812 Uncertain 20_47585642_T->C 20 47585642 47585642 T C snp 3337.77 1/1 99 106 0 106 1.0 intronic rs3764683 ARFGEF2 AR NM_006420 exon9 c.47257-41T>C 0.371406 0.4812 0.296479 0.3220 0.4821 Uncertain 20_47589122_T->C 20 47589122 47589122 T C snp 1342.77 1/1 99 40 0 40 1.0 intronic rs2273102 ARFGEF2 AR NM_006420 exon11 c.50536+160T>C 0.366813 0.4812 Uncertain 20_47604825_G->A 20 47604825 47604825 G A snp 2941.77 1/1 99 104 0 104 1.0 intronic rs4810905 ARFGEF2 AR NM_006420 exon17 c.66414-15G>A 0.290735 0.4812 0.217823 0.3062 0.4879 Uncertain 20_47614665_G->A 20 47614665 47614665 G A snp 2490.77 1/1 99 83 0 83 1.0 intronic rs3764681 ARFGEF2 AR NM_006420 exon24 c.76303-64G>A 0.289337 0.4812 0.224266 Uncertain 20_47615075_A->- 20 47615075 47615075 A - indel 177.74 1/1 27 11 0 11 1.0 intronic rs60107724 ARFGEF2 AR NM_006420 exon25 c.76616+33delA 0.443291 0.503 0.4657 0.5127 Uncertain 20_47615692_T->G 20 47615692 47615692 T G snp 126.03 1/1 12 4 0 4 1.0 intronic rs6019576 ARFGEF2 AR NM_006420 exon25 c.76616+650T>G 0.206669 0.3988 Uncertain 20_47621554_G->A 20 47621554 47621554 G A snp 1460.77 1/1 99 47 0 47 1.0 intronic rs4810910 ARFGEF2 AR NM_006420 exon26 c.83180-52G>A 0.373003 0.4821 Uncertain 20_47628363_G->A 20 47628363 47628363 G A snp 4961.77 1/1 99 162 1 161 0.99 intronic rs1535268 ARFGEF2 AR NM_006420 exon28 c.90034-97G>A 0.197085 0.3938 Uncertain 20_47630449_C->T 20 47630449 47630449 C T snp 2996.77 1/1 99 105 0 105 1.0 exonic rs2281582 ARFGEF2 AR synonymous SNV NM_006420 exon30 c.C4131T p.I1377I 0.208466 0.3938 0.113025 0.1899 0.3828 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000116403.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 20_47632754_A->G 20 47632754 47632754 A G snp 2563.77 1/1 99 87 0 87 1.0 intronic rs1473718 ARFGEF2 AR NM_006420 exon31 c.94390-62A>G 0.292133 0.4812 Uncertain 20_47634006_-->T 20 47634006 47634006 - T indel 4512.73 1/1 99 176 0 176 1.0 intronic rs11086275 ARFGEF2 AR NM_006420 exon33 c.95606-26insT 0.218770 0.3012 0.4840 Uncertain 20_47639464_G->C 20 47639464 47639464 G C snp 1074.77 1/1 81 31 0 31 1.0 intronic rs2426106 ARFGEF2 AR NM_006420 exon35 c.101161-123G>C 0.639976 0.6716 Uncertain 20_47675176_T->A 20 47675176 47675176 T A snp 570.77 1/1 42 19 0 19 1.0 intronic rs2064853 CSE1L AU NM_001316 exon2 c.85+91T>A 0.637979 0.6716 Uncertain 20_47682893_C->T 20 47682893 47682893 C T snp 7169.77 1/1 99 250 0 250 1.0 intronic rs2246266 CSE1L AU NM_001316 exon5 c.7901-8C>T 0.290935 0.4802 0.219514 0.3017 0.4842 Uncertain 20_47691445_C->T 20 47691445 47691445 C T snp 1583.77 1/1 99 46 0 46 1.0 intronic rs3092153 CSE1L AU NM_001316 exon11 c.16387+58C>T 0.290935 0.4802 0.221735 Uncertain 20_47770443_-->A 20 47770443 47770443 - A indel 46.73 0/1 84 32 18 14 0.44 intronic rs760707366 STAU1 AU NM_004602 exon11 c.39055-26insA 0.0227 0.0234 Uncertain 20_47855409_-->GT 20 47855409 47855409 - GT indel 697.73 0/1 99 46 28 18 0.39 intronic DDX27 AU NM_017895 exon15 c.19593-76insGT Uncertain 20_47951126_G->T 20 47951126 47951126 G T snp 52.74 1/1 6 2 0 2 1.0 intergenic rs79746633 ZFAS1 AU Uncertain 20_47956714_A->T 20 47956714 47956714 A T snp 174.9 1/1 15 5 0 5 1.0 intergenic rs2143723 ZFAS1 AU 0.21845 0.376 Uncertain 20_48184463_G->A 20 48184463 48184463 G A snp 221.84 1/1 18 7 0 7 1.0 intronic rs575322 PTGIS AO NM_000961 exon10 c.60123-116G>A 0.500799 0.6538 Uncertain 20_48184682_-->CGGGGCTGGCGGGGCTGA 20 48184682 48184682 - CGGGGCTGGCGGGGCTGA indel 3028.73 1/1 54 24 0 24 1.0 UTR5 rs551404086 PTGIS AO 0.539936 0.7103 0.375 . Uncertain 20_48184734_G->C 20 48184734 48184734 G C snp 84.28 1/1 9 4 0 4 1.0 upstream rs7262428 PTGIS AO Uncertain 20_48257149_C->T 20 48257149 48257149 C T snp 1752.77 0/1 99 165 88 77 0.47 exonic rs421801 B4GALT5 AU synonymous SNV NM_004776 exon6 c.G660A p.E220E 0.810104 0.8284 0.810241 0.8044 0.8231 Uncertain 20_48259034_A->G 20 48259034 48259034 A G snp 1138.77 0/1 99 134 83 51 0.38 exonic rs2235855 B4GALT5 AU synonymous SNV NM_004776 exon5 c.T577C p.L193L 0.446685 0.3948 0.477087 0.5121 0.3778 Uncertain 20_48273299_T->C 20 48273299 48273299 T C snp 1894.77 1/1 99 66 0 66 1.0 intronic rs4810968 B4GALT5 AU NM_004776 exon8 c.20391+60T>C 0.997604 1 Uncertain 20_48300990_C->T 20 48300990 48300990 C T snp 184.77 0/1 58 10 2 8 0.8 intronic rs6019972 B4GALT5 AU NM_004776 exon8 c.20391+27751C>T 0.821685 0.8284 Uncertain 20_48301146_G->A 20 48301146 48301146 G A snp 1134.77 0/1 99 100 51 49 0.49 intronic rs6512586 B4GALT5 AU NM_004776 exon8 c.20391+27907G>A 0.468051 0.3938 0.500174 0.5201 0.3772 Uncertain 20_48330030_G->C 20 48330030 48330030 G C snp 1257.77 0/1 99 94 43 51 0.54 intronic rs12329570 B4GALT5 AU NM_004776 exon9 c.77264-82G>C 0.436502 0.3958 Uncertain 20_48429316_-->GACGGAGG 20 48429316 48429316 - GACGGAGG indel 2367.73 1/1 69 23 0 23 1.0 UTR5 rs11281224 SLC9A8 AU Uncertain 20_48429341_C->T 20 48429341 48429341 C T snp 445.77 0/1 99 40 19 21 0.53 UTR5 rs8121764 SLC9A8 AU 0.0684904 0.0724 Uncertain 20_48429508_G->C 20 48429508 48429508 G C snp 977.77 0/1 99 66 25 41 0.62 intronic rs58677849 SLC9A8 AU NM_015266 exon1 c.26+23G>C 0.478834 0.5615 0.400672 0.4814 0.5805 Uncertain 20_48429509_G->C 20 48429509 48429509 G C snp 948.77 0/1 99 66 25 41 0.62 intronic rs6020064 SLC9A8 AU NM_015266 exon1 c.26+24G>C 0.478834 0.5615 0.397677 0.4785 0.5777 Uncertain 20_48456238_G->A 20 48456238 48456238 G A snp 146.03 1/1 12 6 0 6 1.0 intronic rs2025958 SLC9A8 AU NM_015266 exon4 c.26677+102G>A 0.65016 0.6716 Uncertain 20_48467560_G->C 20 48467560 48467560 G C snp 149.77 0/1 99 13 6 7 0.54 intronic rs532237 SLC9A8 AU NM_015266 exon7 c.37922+179G>C 0.823283 0.8373 Uncertain 20_48471768_C->A 20 48471768 48471768 C A snp 38.77 0/1 67 5 3 2 0.4 intronic rs2235623 SLC9A8 AU NM_015266 exon8 c.42515-206C>A 0.0860623 0.3512 Uncertain 20_48491258_T->G 20 48491258 48491258 T G snp 2470.77 0/1 99 204 97 107 0.52 exonic rs542234 SLC9A8 AU synonymous SNV NM_001260491 exon11 c.T1023G p.L341L 0.822883 0.8373 0.791558 0.8105 0.8381 Uncertain 20_48500760_-->ACACACACG 20 48500760 48500760 - ACACACACG indel 717.73 0/1 99 21 7 14 0.67 intronic SLC9A8 AU NM_015266 exon14 c.71144+157insACACACACG Uncertain 20_48522124_T->G 20 48522124 48522124 T G snp 318.77 0/1 99 31 21 10 0.32 UTR3 rs78700554 SPATA2 AU 0.0385383 0.0843 0.036522 0.0430 0.0853 Uncertain 20_48522392_G->A 20 48522392 48522392 G A snp 519.77 0/1 99 41 21 20 0.49 exonic rs2072985 SPATA2 AU nonsynonymous SNV NM_001135773 exon3 c.C1327T p.L443F 0.0856629 0.3482 0.002691 0.0392 0.3517 0.47 T 0.020 P -1.032 T 0.892 T 0.542 P Pathogenic 20_48522585_G->A 20 48522585 48522585 G A snp 2409.77 1/1 99 82 0 82 1.0 exonic rs492702 SPATA2 AU synonymous SNV NM_001135773 exon3 c.C1134T p.S378S 0.488618 0.7728 0.368138 0.5175 0.7866 Uncertain 20_48524827_A->G 20 48524827 48524827 A G snp 3329.77 1/1 99 118 0 118 1.0 exonic rs2769982 SPATA2 AU synonymous SNV NM_001135773 exon2 c.T201C p.Y67Y 0.490815 0.7738 0.369983 0.5141 0.7868 Uncertain 20_48561893_A->G 20 48561893 48561893 A G snp 1847.77 1/1 99 59 0 59 1.0 intronic rs4810993 RNF114 AU NM_018683 exon3 c.8969-25A>G 0.93151 0.9405 0.907735 0.9068 0.9211 Uncertain 20_48562083_-->TTGGACACC 20 48562083 48562083 - TTGGACACC indel 7166.73 1/1 99 67 0 67 1.0 intronic rs11472764 RNF114 AU NM_018683 exon3 c.9076+58insTTGGACACC 0.926518 0.9405 Uncertain 20_48562116_T->C 20 48562116 48562116 T C snp 412.77 0/1 99 36 19 17 0.47 intronic rs79598075 RNF114 AU NM_018683 exon3 c.9076+91T>C 0.038738 0.0853 Uncertain 20_48568503_C->T 20 48568503 48568503 C T snp 912.77 0/1 99 85 51 34 0.4 intronic rs2281216 RNF114 AU NM_018683 exon6 c.15663-109C>T 0.452276 0.6885 Uncertain 20_48599549_T->C 20 48599549 48599549 T C snp 1285.77 0/1 99 103 50 53 0.51 UTR5 rs4647954 SNAI1 AU 0.422524 0.4058 0.367502 0.2921 0.4401 Uncertain 20_48699651_T->G 20 48699651 48699651 T G snp 68.77 0/1 97 9 6 3 0.33 intronic rs6125888 TMEM189-UBE2V1 AU NM_199203 exon1 c.147+200T>G 0.113219 0.122 Uncertain 20_48713049_G->A 20 48713049 48713049 G A snp 2274.77 1/1 99 80 0 80 1.0 UTR5 rs6012831 UBE2V1 AU 1 1 1 1 Uncertain 20_48713129_C->T 20 48713129 48713129 C T snp 643.77 0/1 99 73 44 29 0.4 UTR5 rs147658180 UBE2V1 AU 0.00938498 0.0446 Uncertain 20_48729677_C->G 20 48729677 48729677 C G snp 1951.77 1/1 99 69 1 68 0.99 UTR5 rs126907 UBE2V1 AU 0.967252 0.9911 0.931037 0.9286 0.9917 Uncertain 20_48746189_C->T 20 48746189 48746189 C T snp 1084.77 0/1 99 94 48 46 0.49 exonic rs6122878 TMEM189 AU synonymous SNV NM_001162505 exon4 c.G363A p.P121P 0.287141 0.25 0.282254 0.2789 0.2720 Uncertain 20_48767701_A->T 20 48767701 48767701 A T snp 346.77 0/1 99 20 7 13 0.65 intronic TMEM189 AU NM_001162505 exon6 c.28459-2352A>T Uncertain 20_48770159_T->C 20 48770159 48770159 T C snp 1862.77 1/1 99 70 0 70 1.0 exonic rs232733 TMEM189 AU nonsynonymous SNV NM_001162505 exon1 c.A16G p.N6D 1 1 1 1 1 T 0.0 P -0.955 T 0.0 T 0.0 T Pathogenic 20_48808011_C->T 20 48808011 48808011 C T snp 4779.77 1/1 99 186 1 185 0.99 exonic rs4253439 CEBPB AU synonymous SNV NM_001285878 exon1 c.C372T p.A124A 0.369808 0.4752 0.337050 0.5722 0.6187 Uncertain 20_48892084_G->A 20 48892084 48892084 G A snp 1115.77 0/1 99 69 28 41 0.59 intronic rs117039875 LINC01272 AU 0.00379393 0.005 Uncertain 20_48894756_C->T 20 48894756 48894756 C T snp 843.77 0/1 99 67 35 32 0.48 exonic rs3088220 LINC01272 AU nonsynonymous SNV NM_001278655 exon4 c.C232T p.L78F 0.170727 0.1696 0.2776 0.1972 Pathogenic 20_48894872_T->C 20 48894872 48894872 T C snp 3253.77 1/1 99 119 0 119 1.0 UTR3 rs3761180 LINC01272 AU 0.68151 0.8333 0.5646 0.8671 Uncertain 20_48894919_C->T 20 48894919 48894919 C T snp 893.77 0/1 99 96 56 40 0.42 UTR3 rs12625213 LINC01272 AU 0.244808 0.498 Uncertain 20_49181345_T->A 20 49181345 49181345 T A snp 828.77 0/1 99 48 19 29 0.6 intronic rs16995294 PTPN1 AD NM_002827 exon3 c.54441-160T>A 0.511182 0.6438 Uncertain 20_49191228_A->C 20 49191228 49191228 A C snp 2421.77 0/1 99 227 116 111 0.49 intronic rs1885177 PTPN1 AD NM_002827 exon5 c.64127+37A>C 0.511781 0.6438 0.461710 0.5280 0.6269 Uncertain 20_49194866_-->T 20 49194866 49194866 - T indel 1393.73 0/1 99 83 46 37 0.45 intronic rs3215684 PTPN1 AD NM_002827 exon6 c.67892-90insT 0.630591 0.6885 Uncertain 20_49195493_C->A 20 49195493 49195493 C A snp 48.74 1/1 6 2 0 2 1.0 intronic rs4809800 PTPN1 AD NM_002827 exon7 c.68640-211C>A 0.625399 0.6855 Uncertain 20_49196284_C->T 20 49196284 49196284 C T snp 224.77 0/1 99 15 5 10 0.67 exonic rs2230604 PTPN1 AD synonymous SNV NM_002827 exon8 c.C909T p.P303P 0.151358 0.2272 0.090727 0.1097 0.2079 Uncertain 20_49211311_C->T 20 49211311 49211311 C T snp 318.77 0/1 99 19 8 11 0.58 intronic rs6091179 FAM65C AU NM_001290268 exon6 c.7483+60C>T 0.142971 0.1895 Uncertain 20_49214156_A->G 20 49214156 49214156 A G snp 1908.77 0/1 99 156 75 81 0.52 exonic rs6020624 FAM65C AU nonsynonymous SNV NM_001290268 exon14 c.T1751C p.L584P 0.698283 0.7034 0.716208 0.7094 0.7239 0.17 T 0.0 P -1.056 T 0.0 T 0.0 T Pathogenic 20_49214383_G->C 20 49214383 49214383 G C snp 177.77 0/1 99 14 8 6 0.43 intronic rs6012972 FAM65C AU NM_001290268 exon9 c.10479+136G>C 0.693291 0.6895 Uncertain 20_49225953_A->G 20 49225953 49225953 A G snp 737.77 0/1 99 66 34 32 0.48 intronic rs73615305 FAM65C AU NM_001290268 exon15 c.22125+60A>G 0.412141 0.6042 0.416338 Uncertain 20_49227294_T->C 20 49227294 49227294 T C snp 796.77 1/1 60 25 0 25 1.0 intronic rs4811083 FAM65C AU NM_001290268 exon17 c.23621-95T>C 0.842252 0.9296 Uncertain 20_49227544_-->GGCTTAGTGCCGGGCC 20 49227544 49227544 - GGCTTAGTGCCGGGCC indel 13809.7 1/1 99 81 0 81 1.0 intronic rs144167038 FAM65C AU NM_001290268 exon17 c.23675+101insGGCTTAGTGCCGGGCC Uncertain 20_49236478_G->A 20 49236478 49236478 G A snp 1957.77 0/1 99 182 98 84 0.46 intronic rs6122953 FAM65C AU NM_001290268 exon20 c.32754-44G>A 0.540335 0.6766 0.543595 0.6331 0.6686 Uncertain 20_49367076_T->G 20 49367076 49367076 T G snp 953.77 0/1 99 73 36 37 0.51 UTR3 rs6020721 PARD6B AU 0.397963 0.6597 0.277795 0.3852 0.6269 Uncertain 20_49411698_G->T 20 49411698 49411698 G T snp 573.77 0/1 99 70 40 30 0.43 exonic rs2272962 BCAS4 AU nonsynonymous SNV NM_001010974 exon1 c.G168T p.E56D 0.155551 0.1329 0.108960 0.2081 0.1714 0.62 T 0.003 P -1.048 T 0.999 D 0.992 D Pathogenic 20_49434526_A->G 20 49434526 49434526 A G snp 54.74 1/1 6 2 0 2 1.0 intronic rs1124952 BCAS4 AU NM_198799 exon2 c.23217-221A>G 0.251198 0.0962 Uncertain 20_49434670_A->- 20 49434670 49434670 A - indel 544.73 0/1 99 95 50 45 0.47 intronic rs566792194 BCAS4 AU NM_198799 exon2 c.23217-77delA 0.451278 0.4236 Uncertain 20_49448452_T->C 20 49448452 49448452 T C snp 776.77 0/1 99 77 43 34 0.44 intronic rs11905485 BCAS4 AU NM_198799 exon3 c.35387+1535T>C 0.122005 0.1101 Uncertain 20_49507892_T->G 20 49507892 49507892 T G snp 990.77 1/1 75 27 0 27 1.0 UTR3 rs761240 ADNP AD 0.96905 1 0.946385 0.9445 0.9998 Uncertain 20_49620783_G->T 20 49620783 49620783 G T snp 2853.77 0/1 99 208 92 116 0.56 exonic rs1054268 KCNG1 AU synonymous SNV NM_002237 exon3 c.C1335A p.I445I 0.642372 0.6558 0.693065 0.7679 0.6241 Uncertain 20_49621149_T->C 20 49621149 49621149 T C snp 1305.77 0/1 99 134 74 60 0.45 exonic rs6122993 KCNG1 AU synonymous SNV NM_002237 exon3 c.A969G p.A323A 0.650759 0.6587 0.711210 0.7885 0.6668 Uncertain 20_49621399_G->C 20 49621399 49621399 G C snp 552.77 0/1 99 43 24 19 0.44 intronic rs4811110 KCNG1 AU NM_002237 exon1 c.768+56G>C 0.704673 0.6587 Uncertain 20_49626971_C->T 20 49626971 49626971 C T snp 370.77 0/1 99 25 13 12 0.48 intronic rs6122994 KCNG1 AU NM_002237 exon2 c.6326+70C>T 0.344649 0.4187 Uncertain 20_50015103_TACTTA->- 20 50015103 50015108 TACTTA - indel 1131.73 0/1 99 18 5 13 0.72 intronic NFATC2 AU NM_173091 exon1 c.56+7115_56+7120delTACTTA Uncertain 20_50015108_AA->- 20 50015108 50015109 AA - indel 130.27 1/1 1 18 9 9 0.5 intronic rs11086333 NFATC2 AU NM_173091 exon1 c.56+7120_56+7121delAA 0.200879 0.2163 Uncertain 20_50015301_A->- 20 50015301 50015301 A - indel 423.73 0/1 99 43 22 21 0.49 intronic rs11478012 NFATC2 AU NM_001136021 exon2 c.44+34delA 0.385783 0.3869 0.4189 0.4832 Uncertain 20_50071258_A->G 20 50071258 50071258 A G snp 833.77 0/1 99 60 28 32 0.53 intronic rs228840 NFATC2 AU NM_001136021 exon6 c.56002+33A>G 0.775759 0.7738 0.787944 0.8261 0.7674 Uncertain 20_50092287_T->C 20 50092287 50092287 T C snp 194.77 0/1 99 12 5 7 0.58 intronic rs6021231 NFATC2 AU NM_001136021 exon8 c.76974+90T>C 0.49401 0.3869 Uncertain 20_50243941_A->G 20 50243941 50243941 A G snp 143.03 1/1 12 5 0 5 1.0 intronic rs1467413 ATP9A AU NM_006045 exon12 c.26389-197A>G 0.476837 0.7024 Uncertain 20_50244098_T->C 20 50244098 50244098 T C snp 2906.77 1/1 99 107 0 107 1.0 intronic rs2426317 ATP9A AU NM_006045 exon12 c.26389-40T>C 0.707867 0.8006 0.741735 0.7829 0.8035 Uncertain 20_50245732_G->C 20 50245732 50245732 G C snp 1217.77 1/1 90 32 0 32 1.0 intronic rs2426318 ATP9A AU NM_006045 exon13 c.27862+121G>C 0.468251 0.7044 Uncertain 20_50255762_T->C 20 50255762 50255762 T C snp 872.77 1/1 66 27 0 27 1.0 intronic rs2426333 ATP9A AU NM_006045 exon14 c.38132-119T>C 0.822484 0.8155 Uncertain 20_50256107_T->C 20 50256107 50256107 T C snp 93.28 1/1 9 4 0 4 1.0 intronic rs2426334 ATP9A AU NM_006045 exon14 c.38294+64T>C 0.884984 0.8542 Uncertain 20_50286484_-->A 20 50286484 50286484 - A indel 2781.73 1/1 99 120 1 119 0.99 intronic rs397724515 ATP9A AU NM_006045 exon16 c.68786-51insA 0.598043 0.6647 Uncertain 20_50287736_C->T 20 50287736 50287736 C T snp 7304.77 1/1 99 250 0 250 1.0 exonic rs2255341 ATP9A AU synonymous SNV NM_006045 exon12 c.G1098A p.S366S 0.532947 0.7937 0.465554 0.5286 0.8011 Uncertain 20_50287790_A->G 20 50287790 50287790 A G snp 6657.77 1/1 99 250 2 248 0.99 exonic rs2255342 ATP9A AU synonymous SNV NM_006045 exon12 c.T1044C p.R348R 0.704073 0.7976 0.732508 0.7666 0.8035 Uncertain 20_50287925_A->G 20 50287925 50287925 A G snp 1957.77 1/1 99 63 0 63 1.0 intronic rs2255358 ATP9A AU NM_006045 exon17 c.70047+129A>G 0.786542 0.7986 Uncertain 20_50290654_T->C 20 50290654 50290654 T C snp 2621.77 1/1 99 87 0 87 1.0 intronic rs6091346 ATP9A AU NM_006045 exon18 c.72942-37T>C 0.713458 0.7986 0.732431 0.7734 0.8044 Uncertain 20_50307132_C->T 20 50307132 50307132 C T snp 144.77 0/1 99 9 4 5 0.56 intronic rs6126303 ATP9A AU NM_006045 exon21 c.89528-145C>T 0.371805 0.6042 Uncertain 20_50307502_G->C 20 50307502 50307502 G C snp 751.77 0/1 99 62 35 27 0.44 intronic rs4811222 ATP9A AU NM_006045 exon21 c.89609+144G>C 0.370208 0.6319 Uncertain 20_50310483_-->TC 20 50310483 50310483 - TC indel 2545.73 0/1 99 107 48 59 0.55 intronic rs143733288 ATP9A AU NM_006045 exon22 c.92797-63insTC 0.750998 0.6736 Uncertain 20_50314052_C->T 20 50314052 50314052 C T snp 3085.77 0/1 99 226 105 121 0.54 intronic rs58432772 ATP9A AU NM_006045 exon24 c.96272+31C>T 0.232029 0.4802 0.200446 0.2513 0.4929 Uncertain 20_50314200_A->G 20 50314200 50314200 A G snp 304.77 0/1 99 15 4 11 0.73 intronic rs1205690 ATP9A AU NM_006045 exon24 c.96272+179A>G 0.574281 0.6349 Uncertain 20_50329416_T->C 20 50329416 50329416 T C snp 1949.77 1/1 99 67 0 67 1.0 intronic rs1205698 ATP9A AU NM_006045 exon25 c.111755-88T>C 0.987021 1 Uncertain 20_50329704_G->A 20 50329704 50329704 G A snp 752.77 0/1 99 58 31 27 0.47 intronic rs1205699 ATP9A AU NM_006045 exon25 c.111864+91G>A 0.66254 0.5585 Uncertain 20_50329755_G->A 20 50329755 50329755 G A snp 183.77 0/1 99 15 7 8 0.53 intronic rs1205700 ATP9A AU NM_006045 exon25 c.111864+142G>A 0.664337 0.5585 Uncertain 20_50342285_A->G 20 50342285 50342285 A G snp 3029.77 1/1 99 102 0 102 1.0 intronic rs1205708 ATP9A AU NM_006045 exon26 c.124608-72A>G 0.815895 0.996 Uncertain 20_50342555_C->T 20 50342555 50342555 C T snp 1058.77 1/1 78 29 0 29 1.0 intronic rs1205709 ATP9A AU NM_006045 exon26 c.124722+84C>T 0.987021 1 Uncertain 20_50384821_A->G 20 50384821 50384821 A G snp 715.77 0/1 99 86 47 39 0.45 intronic rs3746416 ATP9A AU NM_006045 exon28 c.167091-19A>G 0.338858 0.2827 0.362704 0.4690 0.3814 Uncertain 20_50406985_G->A 20 50406985 50406985 G A snp 3147.77 0/1 99 250 123 127 0.51 exonic rs13043248 SALL4 AD synonymous SNV NM_020436 exon2 c.C2037T p.T679T 0.0441294 0.0268 0.081732 0.0753 0.0258 Uncertain 20_50407966_C->T 20 50407966 50407966 C T snp 1392.77 0/1 99 120 60 60 0.5 exonic rs13038893 SALL4 AD synonymous SNV NM_020436 exon2 c.G1056A p.A352A 0.209265 0.0278 0.335230 0.2522 0.0278 Uncertain 20_50408482_A->G 20 50408482 50408482 A G snp 4649.77 1/1 99 162 0 162 1.0 exonic rs6013281 SALL4 AD synonymous SNV NM_020436 exon2 c.T540C p.N180N 0.997404 1 0.995617 0.9965 1 Uncertain 20_50713653_A->- 20 50713653 50713653 A - indel 7139.73 1/1 99 249 0 249 1.0 intronic rs10715971 ZFP64 AU NM_199427 exon3 c.12816-258delA 0.676518 0.5536 0.647623 0.6454 0.6211 Uncertain 20_50782303_A->G 20 50782303 50782303 A G snp 587.77 0/1 99 33 11 22 0.67 intronic rs6021771 ZFP64 AU NM_199427 exon7 c.81307-99A>G 0.571486 0.5228 Uncertain 20_51802068_C->G 20 51802068 51802068 C G snp 645.77 1/1 48 17 0 17 1.0 intronic rs2010170 TSHZ2 AU NM_001193421 exon1 c.31-147C>G 0.602835 0.7738 Uncertain 20_51802132_T->C 20 51802132 51802132 T C snp 1795.77 1/1 99 65 0 65 1.0 intronic rs2010156 TSHZ2 AU NM_001193421 exon1 c.31-83T>C 0.772764 0.875 Uncertain 20_51870849_T->C 20 51870849 51870849 T C snp 5451.77 1/1 99 196 2 194 0.99 exonic rs739870 TSHZ2 AU synonymous SNV NM_173485 exon2 c.T852C p.F284F 0.834465 0.7837 0.789866 0.7674 0.7850 Uncertain 20_52185814_C->A 20 52185814 52185814 C A snp 530.77 1/1 39 18 0 18 1.0 ncRNA_intronic rs4602270 LOC101927770 AU 0.779153 0.8274 0.7256 0.8153 Uncertain 20_52192408_C->T 20 52192408 52192408 C T snp 2078.77 0/1 99 155 67 88 0.57 exonic rs34495111 ZNF217 AU synonymous SNV NM_006526 exon3 c.G2895A p.A965A 0.0613019 0.1369 0.011379 0.0406 0.1516 Uncertain 20_52193368_C->T 20 52193368 52193368 C T snp 3023.77 0/1 99 227 101 126 0.56 exonic rs3748503 ZNF217 AU synonymous SNV NM_006526 exon3 c.G1935A p.A645A 0.0696885 0.1359 0.016915 0.0422 0.1510 Uncertain 20_52193660_G->A 20 52193660 52193660 G A snp 3146.77 0/1 99 250 132 118 0.47 exonic rs35720349 ZNF217 AU nonsynonymous SNV NM_006526 exon3 c.C1643T p.T548I 0.0465256 0.1171 0.006535 0.0319 0.1334 0.15 T 0.0 P -0.998 T 0.003 T 0.002 T Pathogenic 20_52193698_G->A 20 52193698 52193698 G A snp 3394.77 0/1 99 250 122 128 0.51 exonic rs7270855 ZNF217 AU synonymous SNV NM_006526 exon3 c.C1605T p.N535N 0.0607029 0.1359 0.010303 0.0397 0.1505 Uncertain 20_52198340_T->A 20 52198340 52198340 T A snp 2884.77 0/1 99 250 137 113 0.45 exonic rs16998248 ZNF217 AU synonymous SNV NM_006526 exon1 c.A1026T p.A342A 0.175919 0.2758 0.066200 0.1103 0.2922 Uncertain 20_52557958_-->GCGCGCGTGTGTGT 20 52557958 52557958 - GCGCGCGTGTGTGT indel 4453.73 1/1 84 28 0 28 1.0 intergenic rs56724440 SUMO1P1 AU 0.1315 0.4013 Uncertain 20_52561702_C->T 20 52561702 52561702 C T snp 1575.77 1/1 99 47 0 47 1.0 intronic rs4811486 BCAS1 AU NM_003657 exon1 c.75+167C>T 0.232428 0.3829 Uncertain 20_52591831_A->G 20 52591831 52591831 A G snp 218.77 0/1 99 21 13 8 0.38 intronic rs2302040 BCAS1 AU NM_003657 exon5 c.30467-96A>G 0.106629 0.3442 Uncertain 20_52592141_TA->- 20 52592141 52592142 TA - indel 170.87 1/1 15 12 0 12 1.0 intronic BCAS1 AU NM_003657 exon5 c.30509+172_30509+173delTA 0.240615 0.4415 Uncertain 20_52611427_-->ACACACACACAC 20 52611427 52611427 - ACACACACACAC indel 3605.73 1/1 78 31 0 31 1.0 intronic BCAS1 AU NM_003657 exon7 c.50090-123insACACACACACAC Uncertain 20_52611540_C->A 20 52611540 52611540 C A snp 3223.52 1/1 99 126 0 126 1.0 intronic rs208381 BCAS1 AU NM_003657 exon7 c.50090-10C>A 0.31889 0.5 0.214286 0.2002 0.4858 Uncertain 20_52645534_T->C 20 52645534 52645534 T C snp 630.77 0/1 99 79 50 29 0.37 intronic rs466264 BCAS1 AU NM_003657 exon9 c.84051+23T>C 0.696486 0.8879 0.643330 0.6827 0.9000 Uncertain 20_52645646_G->A 20 52645646 52645646 G A snp 40.77 0/1 33 3 1 2 0.67 intronic rs2072128 BCAS1 AU NM_003657 exon9 c.84051+135G>A 0.201478 0.3036 Uncertain 20_52674615_A->G 20 52674615 52674615 A G snp 1703.77 1/1 99 66 0 66 1.0 intronic rs465184 BCAS1 AU NM_003657 exon10 c.113163-8A>G 0.781749 0.7986 0.725665 0.6911 0.8127 Uncertain 20_52684924_C->A 20 52684924 52684924 C A snp 2553.77 1/1 99 100 1 99 0.99 intronic rs6068765 BCAS1 AU NM_003657 exon12 c.125511-2047C>A 0.351038 0.3185 0.5833 . Uncertain 20_52685084_T->C 20 52685084 52685084 T C snp 312.78 1/1 24 10 0 10 1.0 intronic rs290446 BCAS1 AU NM_003657 exon12 c.125511-1887T>C 0.499601 0.6121 Uncertain 20_52773634_T->C 20 52773634 52773634 T C snp 94.28 1/1 9 3 0 3 1.0 intronic rs6097810 CYP24A1 AR 0.396166 0.6071 Uncertain 20_52774579_A->G 20 52774579 52774579 A G snp 1762.77 1/1 99 58 0 58 1.0 intronic rs1570670 CYP24A1 AR NM_001128915 exon3 c.907-45A>G 0.395767 0.6052 0.277026 0.2803 0.6154 Uncertain 20_52774601_A->G 20 52774601 52774601 A G snp 2207.77 1/1 99 79 0 79 1.0 intronic rs2274130 CYP24A1 AR NM_001128915 exon3 c.907-23A>G 0.395767 0.6052 0.277180 0.2813 0.6153 Uncertain 20_52774883_C->T 20 52774883 52774883 C T snp 732.77 1/1 54 22 0 22 1.0 intronic rs2274131 CYP24A1 AR NM_001128915 exon3 c.986+180C>T 0.217652 0.3075 Uncertain 20_52774903_G->A 20 52774903 52774903 G A snp 427.77 1/1 33 11 0 11 1.0 intronic rs2274132 CYP24A1 AR NM_001128915 exon3 c.986+200G>A 0.395567 0.6052 Uncertain 20_52775528_C->T 20 52775528 52775528 C T snp 7275.77 1/1 99 250 0 250 1.0 exonic rs2296239 CYP24A1 AR synonymous SNV NM_000782 exon8 c.G1125A p.P375P 0.395567 0.6052 0.277180 0.2788 0.6133 Uncertain 20_52775728_A->G 20 52775728 52775728 A G snp 2106.77 1/1 99 66 1 65 0.98 intronic rs2296240 CYP24A1 AR NM_001128915 exon4 c.1945+66A>G 0.396166 0.6052 Uncertain 20_52775774_G->A 20 52775774 52775774 G A snp 658.77 1/1 51 17 0 17 1.0 intronic rs6091826 CYP24A1 AR NM_001128915 exon4 c.1945+112G>A 0.396166 0.6052 Uncertain 20_52779052_G->A 20 52779052 52779052 G A snp 31.77 0/1 60 6 4 2 0.33 intronic rs6127118 CYP24A1 AR NM_001128915 exon5 c.5538-203G>A Uncertain 20_52779082_C->T 20 52779082 52779082 C T snp 358.77 0/1 99 24 13 11 0.46 intronic rs6127119 CYP24A1 AR NM_001128915 exon5 c.5538-173C>T 0.303914 0.4167 Uncertain 20_52781091_C->T 20 52781091 52781091 C T snp 1228.77 0/1 99 132 69 63 0.48 exonic rs6068816 CYP24A1 AR synonymous SNV NM_000782 exon6 c.G744A p.T248T 0.165535 0.3879 0.084423 0.1229 0.3670 Uncertain 20_52781264_T->C 20 52781264 52781264 T C snp 35.77 0/1 64 6 4 2 0.33 intronic rs6013905 CYP24A1 AR NM_001128915 exon6 c.7385+162T>C 0.215056 0.4067 Uncertain 20_52782438_T->G 20 52782438 52782438 T G snp 1305.77 0/1 99 120 71 49 0.41 intronic rs4809958 CYP24A1 AR NM_001128915 exon7 c.8655+66T>G 0.190695 0.3919 Uncertain 20_52788314_T->C 20 52788314 52788314 T C snp 2189.77 1/1 99 74 0 74 1.0 intronic rs2259735 CYP24A1 AR NM_001128915 exon9 c.14492+105T>C 0.566294 0.6538 Uncertain 20_53259964_G->C 20 53259964 53259964 G C snp 1298.77 0/1 99 97 43 54 0.56 intronic rs6064099 DOK5 AU NM_018431 exon7 c.167511-32G>C 0.378195 0.4504 0.360065 0.3093 0.4371 Uncertain 20_54823779_G->T 20 54823779 54823779 G T snp 2402.77 1/1 99 82 0 82 1.0 upstream rs13044293 MC3R AU 0.993411 1 0.993002 0.9977 1 Uncertain 20_54823805_C->A 20 54823805 54823805 C A snp 1186.77 0/1 99 113 61 52 0.46 UTR5 rs3746619 MC3R AU 0.263179 0.253 0.214286 0.1518 0.2321 Uncertain 20_54824029_G->A 20 54824029 54824029 G A snp 3200.06 0/1 99 250 121 129 0.52 exonic rs3827103 MC3R AU nonsynonymous SNV NM_019888 exon1 c.G130A p.V44I 0.252196 0.253 0.199062 0.1453 0.2319 0.05 T 0.999 P -0.953 T 0.429 T 0.05 T ID=CM053305;DIS=Obesity, association with;TAG=DP;PUB=16123355 DP Pathogenic 20_54934067_C->T 20 54934067 54934067 C T snp 161.77 0/1 99 12 4 8 0.67 exonic rs190100022 FAM210B AU synonymous SNV NM_080821 exon1 c.C6T p.A2A 0.0091853 0.0654 0 Uncertain 20_54935283_A->G 20 54935283 54935283 A G snp 2606.77 0/1 99 211 106 105 0.5 intronic rs138363771 FAM210B AU NM_080821 exon1 c.186+1036A>G 0.0081869 0.0170 0 Uncertain 20_54940427_A->G 20 54940427 54940427 A G snp 228.77 0/1 99 13 5 8 0.62 intronic rs111968423 FAM210B AU NM_080821 exon2 c.6257+109A>G 0.132188 Uncertain 20_54940952_G->A 20 54940952 54940952 G A snp 406.77 0/1 99 25 12 13 0.52 intronic rs113828299 FAM210B AU NM_080821 exon3 c.7065-174G>A 0.126997 Uncertain 20_54945211_T->G 20 54945211 54945211 T G snp 113.77 0/1 99 9 5 4 0.44 UTR3 rs34361943 AURKA AD 0.00778754 0.016454 0.0184 0 Uncertain 20_54945309_T->C 20 54945309 54945309 T C snp 929.77 0/1 99 87 50 37 0.43 exonic rs33923703 AURKA AD nonsynonymous SNV NM_198433 exon11 c.A1117G p.M373V 0.00758786 0.016454 0.0185 0.0002 0.03 T 0.999 N -0.971 T 0.002 T 0.001 T Pathogenic 20_54945783_A->G 20 54945783 54945783 A G snp 1158.77 0/1 99 92 43 49 0.53 intronic rs10485805 AURKA AD NM_198436 exon2 c.502+68A>G 0.347444 0.7391 Uncertain 20_54945828_T->C 20 54945828 54945828 T C snp 549.77 0/1 99 43 23 20 0.47 intronic rs150892867 AURKA AD NM_198436 exon2 c.502+113T>C 0.00758786 Uncertain 20_54956707_A->G 20 54956707 54956707 A G snp 495.77 0/1 99 34 12 22 0.65 intronic rs6024840 AURKA AD NM_198436 exon4 c.11414+80A>G 0.446086 0.6865 Uncertain 20_54959296_G->C 20 54959296 54959296 G C snp 336.77 0/1 99 56 38 18 0.32 intronic rs2298016 AURKA AD NM_198436 exon6 c.14112-29G>C 0.334265 0.6508 0.219339 0.2935 0.6771 Uncertain 20_54961463_T->C 20 54961463 54961463 T C snp 1565.77 0/1 99 127 63 64 0.5 exonic rs1047972 AURKA AD nonsynonymous SNV NM_198433 exon5 c.A169G p.I57V 0.84984 0.877 0.837767 0.8482 0.8776 1 T 0.0 P -0.937 T 0.0 T 0.001 T ID=CM051389;DIS=Oesophageal cancer, association with;TAG=DFP;PUB=15867347 DFP Pathogenic 20_54961541_A->T 20 54961541 54961541 A T snp 2455.77 0/1 99 210 106 104 0.5 exonic rs2273535 AURKA AD nonsynonymous SNV NM_198433 exon5 c.T91A p.F31I 0.309704 0.6587 0.188221 0.2735 0.6784 0.52 T 0.0 P -0.990 T 0.0 T 0.001 T CLINSIG=other;CLNDBN=Colon_cancer\x2c_susceptibility_to;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000007021.1;CLNDSDB=.;CLNDSDBID=. ID=CM042940;DIS=Oesophageal cancer, association with;TAG=DFP;PUB=15087379 DFP Pathogenic 20_54974424_C->A 20 54974424 54974424 C A snp 1930.77 1/1 99 60 0 60 1.0 intronic rs2426617 CSTF1 AU NM_001324 exon5 c.3805+11C>A 0.9377 0.9206 0.976934 0.9629 0.9098 Uncertain 20_55028167_G->A 20 55028167 55028167 G A snp 4980.77 1/1 99 187 0 187 1.0 exonic rs2870738 CASS4 AU synonymous SNV NM_001164114 exon5 c.G1773A p.R591R 0.377396 0.6885 0.265764 0.3997 0.6955 Uncertain 20_55033476_C->G 20 55033476 55033476 C G snp 4691.77 1/1 99 167 0 167 1.0 exonic rs3746623 CASS4 AU synonymous SNV NM_001164115 exon5 c.C723G p.L241L 0.525958 0.9196 0.361910 0.4445 0.9485 Uncertain 20_55033635_C->T 20 55033635 55033635 C T snp 4157.77 1/1 99 151 0 151 1.0 exonic rs3746624 CASS4 AU synonymous SNV NM_001164115 exon5 c.C882T p.N294N 0.36861 0.6786 0.260188 0.3865 0.6877 Uncertain 20_55033647_T->C 20 55033647 55033647 T C snp 4179.77 1/1 99 148 0 148 1.0 exonic rs3746625 CASS4 AU synonymous SNV NM_001164115 exon5 c.T894C p.R298R 0.525759 0.9196 0.361602 0.4439 0.9482 Uncertain 20_55033713_G->A 20 55033713 55033713 G A snp 3999.77 1/1 99 142 0 142 1.0 exonic rs3746626 CASS4 AU synonymous SNV NM_001164115 exon5 c.G960A p.T320T 0.525559 0.9196 0.360252 0.4470 0.9476 Uncertain 20_55033856_A->C 20 55033856 55033856 A C snp 1745.77 1/1 99 59 0 59 1.0 UTR3 rs4811697 CASS4 AU 0.526757 0.9196 Uncertain 20_55045632_G->A 20 55045632 55045632 G A snp 3201.82 1/1 99 110 0 110 1.0 intronic rs6024898 RTFDC1 AU NM_001283035 exon2 c.3628-1749G>A 0.553115 0.9177 0.4668 0.9167 Uncertain 20_55045843_T->C 20 55045843 55045843 T C snp 1028.77 1/1 78 32 0 32 1.0 intronic rs6014740 RTFDC1 AU NM_001283035 exon2 c.3628-1538T>C 0.420527 0.6359 Uncertain 20_55048283_A->G 20 55048283 55048283 A G snp 403.77 1/1 30 14 0 14 1.0 intronic rs6024901 RTFDC1 AU NM_001283037 exon2 c.4603-73A>G 0.422125 0.6339 Uncertain 20_55048496_-->GAG 20 55048496 55048496 - GAG indel 5175.73 1/1 99 89 0 89 1.0 intronic rs11471796 RTFDC1 AU NM_001283037 exon2 c.4698+45insGAG 0.863019 0.9921 0.804633 0.8255 0.9968 Uncertain 20_55049908_A->G 20 55049908 55049908 A G snp 2995.77 1/1 99 106 0 106 1.0 intronic rs1474890 RTFDC1 AU NM_001283037 exon3 c.6074+81A>G 0.534744 0.9177 Uncertain 20_55071620_T->G 20 55071620 55071620 T G snp 459.77 1/1 36 13 0 13 1.0 intronic rs6014752 GCNT7 AU NM_080615 exon3 c.5082-74T>G 0.530351 0.9167 Uncertain 20_55072472_A->G 20 55072472 55072472 A G snp 5199.77 1/1 99 177 1 176 0.99 exonic rs6024911 GCNT7 AU unknown 0.840056 0.9921 0.776172 0.8031 0.9920 Uncertain 20_55088404_A->G 20 55088404 55088404 A G snp 1521.77 1/1 99 53 0 53 1.0 exonic rs1059768 RTFDC1 AU nonsynonymous SNV NM_001283036 exon6 c.A511G p.M171V 0.865216 0.9911 0.809396 0.8310 0.9959 0.87 T 1.0 P -0.978 T 0.0 T 0.0 T Pathogenic 20_55748206_G->A 20 55748206 55748206 G A snp 699.77 0/1 99 85 49 36 0.42 intronic rs2148328 BMP7 AU NM_001719 exon2 c.2241-49G>A 0.407548 0.6667 0.417641 0.5251 0.7254 1 T 0.0 P -1.004 T 0.0 T 0.0 T Uncertain 20_55759157_T->C 20 55759157 55759157 T C snp 128.03 1/1 12 4 0 4 1.0 intronic rs6025430 BMP7 AU NM_001719 exon4 c.12961+182T>C 0.987021 1 Uncertain 20_55929264_T->A 20 55929264 55929264 T A snp 333.77 0/1 99 37 25 12 0.32 intronic rs143696961 RAE1 AU NM_003610 exon2 c.90+80T>A 0.0091853 0.0446 Uncertain 20_55966514_C->G 20 55966514 55966514 C G snp 96.28 1/1 9 4 0 4 1.0 UTR5 rs185139274 RBM38 AU 0.998003 1 Uncertain 20_55966515_G->C 20 55966515 55966515 G C snp 133.03 1/1 12 4 0 4 1.0 UTR5 rs539458841 RBM38 AU 0.998003 1 Uncertain 20_55966521_C->G 20 55966521 55966521 C G snp 156.9 1/1 15 5 0 5 1.0 UTR5 rs8115013 RBM38 AU 0.996605 1 Uncertain 20_55966522_G->C 20 55966522 55966522 G C snp 141.03 1/1 12 5 0 5 1.0 UTR5 rs8115097 RBM38 AU 0.996605 1 Uncertain 20_56064267_T->C 20 56064267 56064267 T C snp 3648.77 1/1 99 132 0 132 1.0 intergenic rs6099656 RBM38 AU 0.636382 0.6627 Uncertain 20_56071296_G->A 20 56071296 56071296 G A snp 902.77 1/1 66 40 0 40 1.0 downstream rs11086611 CTCFL AU 0.30012 0.3433 0.4475 0.3571 Uncertain 20_56089479_G->C 20 56089479 56089479 G C snp 54.74 1/1 6 2 0 2 1.0 intronic rs6128061 CTCFL AU NM_001269055 exon4 c.6727-168G>C 0.326278 0.3681 Uncertain 20_56089509_G->- 20 56089509 56089509 G - indel 259.73 0/1 99 13 5 8 0.62 intronic rs375546557 CTCFL AU NM_001269055 exon4 c.6727-138delG 0.00519169 0.0258 Uncertain 20_56089870_T->- 20 56089870 56089870 T - indel 1771.73 1/1 99 92 6 86 0.93 intronic rs11086612 CTCFL AU NM_001269055 exon4 c.6877+73delT 0.629792 0.6647 Uncertain 20_56090807_A->G 20 56090807 56090807 A G snp 1923.77 0/1 99 174 87 87 0.5 exonic rs6025601 CTCFL AU synonymous SNV NM_001269040 exon6 c.T1143C p.D381D 0.328474 0.369 0.250192 0.2403 0.3709 Uncertain 20_56098071_A->- 20 56098071 56098071 A - indel 1399.73 0/1 99 85 41 44 0.52 intronic rs11477755 CTCFL AU NM_001269047 exon8 c.15272-52delA 0.274361 0.3552 Uncertain 20_56098733_T->C 20 56098733 56098733 T C snp 4997.77 1/1 99 177 0 177 1.0 exonic rs6025606 CTCFL AU nonsynonymous SNV NM_001269040 exon2 c.A529G p.T177A 0.749002 0.7361 0.714824 0.6630 0.7371 0.92 T 0.0 P -0.948 T 0.005 T 0.003 T Pathogenic 20_56099114_C->G 20 56099114 56099114 C G snp 3165.77 0/1 99 249 114 135 0.54 exonic rs6070128 CTCFL AU nonsynonymous SNV NM_001269040 exon2 c.G148C p.E50Q 0.285144 0.3651 0.313548 0.3644 0.3580 0.39 T 0.0 P -0.903 T 0.012 T 0.007 T ID=CM140048;DIS=Genome-wide recombination rate, association with;TAG=DP;PUB=24270358 DP Pathogenic 20_56099305_G->A 20 56099305 56099305 G A snp 284.77 0/1 99 20 9 11 0.55 intronic rs11699220 CTCFL AU NM_001269047 exon9 c.16421+33G>A 0.344449 0.3988 0.359641 0.4268 0.3951 Uncertain 20_56131216_A->G 20 56131216 56131216 A G snp 2072.77 0/1 99 186 97 89 0.48 intergenic rs11908628 CTCFL AU 0.176518 0.2966 0.0725 0.2612 Uncertain 20_56136536_A->G 20 56136536 56136536 A G snp 2485.77 0/1 99 230 127 103 0.45 exonic rs1042521 PCK1 AR synonymous SNV NM_002591 exon2 c.A69G p.L23L 0.396965 0.377 0.447947 0.4539 0.3815 Uncertain 20_56137895_G->C 20 56137895 56137895 G C snp 2784.77 1/1 99 92 0 92 1.0 exonic rs707555 PCK1 AR nonsynonymous SNV NM_002591 exon4 c.G550C p.V184L 0.846046 0.7798 0.901199 0.8463 0.7835 1 T 0.006 P -0.924 T 0.0 T 0.0 T ID=CM093477;DIS=Diabetes Mellitus, type 2, association with;TAG=DFP;PUB=19070910 DFP Pathogenic 20_56138040_G->C 20 56138040 56138040 G C snp 1384.77 0/1 99 100 47 53 0.53 intronic rs2070755 PCK1 AR NM_002591 exon5 c.1616-43G>C 0.418331 0.3115 0.466472 0.4649 0.3111 Uncertain 20_56139403_T->C 20 56139403 56139403 T C snp 6265.77 1/1 99 223 0 223 1.0 exonic rs2070756 PCK1 AR synonymous SNV NM_002591 exon7 c.T1140C p.G380G 0.786941 0.7728 0.802245 0.7547 0.7771 Uncertain 20_56139967_C->T 20 56139967 56139967 C T snp 309.78 1/1 24 8 0 8 1.0 intronic rs1023049 PCK1 AR NM_002591 exon9 c.3628-128C>T 0.449281 0.6518 Uncertain 20_56179422_C->A 20 56179422 56179422 C A snp 535.77 0/1 99 94 69 25 0.27 UTR3 rs6064572 ZBP1 AU 0.303514 0.4782 0.3556 0.5333 Uncertain 20_56179586_G->A 20 56179586 56179586 G A snp 1721.77 0/1 99 145 72 73 0.5 UTR3 rs6123710 ZBP1 AU 0.308506 0.4722 0.274796 0.3665 0.5279 Uncertain 20_56179875_A->G 20 56179875 56179875 A G snp 290.77 0/1 99 27 15 12 0.44 intronic rs8118279 ZBP1 AU NM_030776 exon1 c.197+50A>G 0.371006 0.3849 0.354529 0.3065 0.3452 Uncertain 20_56182183_G->C 20 56182183 56182183 G C snp 873.77 0/1 99 80 39 41 0.51 intronic rs4811888 ZBP1 AU NM_030776 exon1 c.197+2358G>C 0.132987 0.249 0.1498 0.2446 0 D 0.0 P -0.943 T Uncertain 20_56182296_A->C 20 56182296 56182296 A C snp 916.77 0/1 99 61 24 37 0.61 intronic rs6123711 ZBP1 AU NM_030776 exon1 c.197+2471A>C 0.316294 0.5357 0.3420 0.5474 0.13 T 0.000 P -0.899 T Uncertain 20_56185303_G->A 20 56185303 56185303 G A snp 775.77 0/1 99 90 55 35 0.39 exonic rs41275648 ZBP1 AU nonsynonymous SNV NM_001160418 exon6 c.C770T p.A257V 0.086262 0.1925 0.052284 0.0656 0.1768 0.51 T 0.0 P -1.036 T 0.267 T 0.039 T Pathogenic 20_56186884_T->C 20 56186884 56186884 T C snp 4518.77 1/1 99 167 0 167 1.0 exonic rs2865394 ZBP1 AU nonsynonymous SNV NM_001160418 exon5 c.A548G p.Q183R 0.996406 1 0.994003 0.9930 1 0.51 T 0.0 P -1.020 T 0.0 T 0.0 T Pathogenic 20_56191173_AG->- 20 56191173 56191174 AG - indel 3954.73 0/1 99 204 100 104 0.51 intronic rs11468882 ZBP1 AU NM_001160419 exon4 c.3158-126_3158-125delAG 0.883387 0.9901 Uncertain 20_56227514_T->C 20 56227514 56227514 T C snp 1676.77 0/1 99 170 98 72 0.42 exonic rs6025698 PMEPA1 AU synonymous SNV NM_001255976 exon4 c.A375G p.S125S 0.311102 0.3661 0.271336 0.2122 0.3820 Uncertain 20_56227532_T->C 20 56227532 56227532 T C snp 4259.77 1/1 99 145 0 145 1.0 exonic rs6025699 PMEPA1 AU synonymous SNV NM_001255976 exon4 c.A357G p.P119P 0.668131 0.8363 0.666385 0.7279 0.8417 Uncertain 20_56227942_A->T 20 56227942 56227942 A T snp 41.77 0/1 70 4 2 2 0.5 intronic rs6123715 PMEPA1 AU NM_199171 exon2 c.980-146A>T 0.16234 0.373 Uncertain 20_56228019_G->C 20 56228019 56228019 G C snp 1441.77 1/1 99 50 0 50 1.0 intronic rs8183538 PMEPA1 AU NM_199171 exon2 c.980-69G>C 0.637979 0.8383 0.644985 Uncertain 20_56726107_C->T 20 56726107 56726107 C T snp 6739.77 1/1 99 250 0 250 1.0 intronic rs6070358 C20orf85 AU NM_178456 exon1 c.68+19C>T 0.99401 1 0.992078 0.9721 0.9993 Uncertain 20_56793546_A->G 20 56793546 56793546 A G snp 1544.77 1/1 99 57 0 57 1.0 UTR3 rs583987 ANKRD60 AU 0.997204 1 0.999124 0.9994 1 Uncertain 20_56793706_G->A 20 56793706 56793706 G A snp 1076.77 0/1 99 107 59 48 0.45 exonic rs584855 ANKRD60 AU nonsynonymous SNV NM_001304369 exon4 c.C883T p.R295C 0.676518 0.5476 0.786027 0.8120 0.5994 0.02 T 0.0 P -1.062 T Pathogenic 20_56793764_G->A 20 56793764 56793764 G A snp 735.77 0/1 99 87 55 32 0.37 exonic rs1192511 ANKRD60 AU synonymous SNV NM_001304369 exon4 c.C825T p.H275H 0.676717 0.5486 0.786027 0.8082 0.6012 0.002 P -1.011 T Likely benign 20_56793899_G->A 20 56793899 56793899 G A snp 85.77 0/1 69 6 2 4 0.67 intronic rs596084 ANKRD60 AU NM_001304369 exon1 c.311+38G>A 0.677117 0.5486 0.786655 0.7890 0.6156 Uncertain 20_56796266_A->G 20 56796266 56796266 A G snp 120.77 0/1 66 6 2 4 0.67 intronic rs8122848 ANKRD60 AU NM_001304369 exon2 c.2843-127A>G 0.0860623 0.1726 Uncertain 20_56796267_C->T 20 56796267 56796267 C T snp 37.77 0/1 66 7 5 2 0.29 intronic rs521615 ANKRD60 AU NM_001304369 exon2 c.2843-126C>T 0.774161 0.744 Uncertain 20_56807969_A->G 20 56807969 56807969 A G snp 1318.77 1/1 96 44 0 44 1.0 ncRNA_exonic rs3818744 PPP4R1L AU 0.416733 0.4167 0.4803 0.3878 Uncertain 20_56811400_C->A 20 56811400 56811400 C A snp 305.78 1/1 24 9 0 9 1.0 ncRNA_intronic rs474212 PPP4R1L AU 0.997404 1 Uncertain 20_56820702_G->T 20 56820702 56820702 G T snp 2641.77 1/1 99 80 0 80 1.0 ncRNA_intronic rs595292 PPP4R1L AU 0.848442 0.9752 Uncertain 20_56820704_T->C 20 56820704 56820704 T C snp 1229.77 0/1 99 82 39 43 0.52 ncRNA_intronic rs3787156 PPP4R1L AU 0.0155751 0.0744 Uncertain 20_56820880_C->T 20 56820880 56820880 C T snp 5505.77 1/1 99 197 0 197 1.0 ncRNA_exonic rs3746406 PPP4R1L AU 0.422724 0.5417 0.4123 0.5268 Uncertain 20_56821127_A->G 20 56821127 56821127 A G snp 2172.77 1/1 99 82 0 82 1.0 ncRNA_exonic rs3746405 PPP4R1L AU 0.421526 0.5407 0.3951 0.4876 0.42 T 0.0 P -0.935 T 0.202 T 0.043 T Uncertain 20_56822236_C->A 20 56822236 56822236 C A snp 875.77 1/1 63 33 0 33 1.0 ncRNA_intronic rs1541117 PPP4R1L AU 0.397165 0.5407 Uncertain 20_56822536_G->A 20 56822536 56822536 G A snp 657.77 1/1 48 22 0 22 1.0 ncRNA_exonic rs4811972 PPP4R1L AU 0.400359 0.5407 0.3887 0.4877 1.000 P -1.096 T Uncertain 20_56823395_T->A 20 56823395 56823395 T A snp 638.77 1/1 46 26 3 23 0.88 ncRNA_intronic rs518929 PPP4R1L AU Uncertain 20_56825826_A->C 20 56825826 56825826 A C snp 99.28 1/1 9 3 0 3 1.0 ncRNA_intronic rs2282205 PPP4R1L AU 0.397364 0.5427 Uncertain 20_56826668_C->T 20 56826668 56826668 C T snp 214.84 1/1 18 6 0 6 1.0 ncRNA_intronic rs1537479 PPP4R1L AU 0.392971 0.5397 Uncertain 20_56826934_T->A 20 56826934 56826934 T A snp 1822.77 1/1 99 64 1 63 0.98 ncRNA_intronic rs6064631 PPP4R1L AU 0.393171 0.5407 0.3880 0.4955 Uncertain 20_56838389_A->G 20 56838389 56838389 A G snp 907.77 1/1 69 25 0 25 1.0 ncRNA_intronic rs6128295 PPP4R1L AU 0.415535 0.5427 Uncertain 20_56846580_T->A 20 56846580 56846580 T A snp 716.77 1/1 54 26 0 26 1.0 ncRNA_intronic rs6015238 PPP4R1L AU 0.685503 0.5714 0.7069 0.5534 Uncertain 20_56861637_A->G 20 56861637 56861637 A G snp 393.77 1/1 30 10 0 10 1.0 ncRNA_intronic rs6026181 PPP4R1L AU 0.688099 0.5694 Uncertain 20_56884927_G->A 20 56884927 56884927 G A snp 349.77 0/1 99 44 28 16 0.36 UTR5 rs76672999 RAB22A AU 0.0165735 0.0496 Uncertain 20_56934552_T->- 20 56934552 56934552 T - indel 74.7 1/1 6 9 1 8 0.89 intronic rs77740075 RAB22A AU NM_020673 exon7 c.49629-109delT 0.396166 0.3938 Uncertain 20_57009796_C->T 20 57009796 57009796 C T snp 224.77 0/1 99 20 11 9 0.45 intronic rs2234487 VAPB AD NM_004738 exon3 c.45246+35C>T 0.416933 0.5823 0.414578 0.4167 0.5759 Uncertain 20_57042377_G->A 20 57042377 57042377 G A snp 646.77 0/1 99 36 13 23 0.64 exonic rs6128351 APCDD1L AU synonymous SNV NM_153360 exon3 c.C526T p.L176L 0.0361422 0.1329 0.0218 0.2031 Uncertain 20_57042665_A->G 20 57042665 57042665 A G snp 1217.77 0/1 99 93 39 54 0.58 exonic rs7265854 APCDD1L AU nonsynonymous SNV NM_153360 exon3 c.T238C p.Y80H 0.123602 0.3026 0.044979 0.0863 0.2918 0.28 T 0.008 P -0.976 T 0.023 T 0.023 T Pathogenic 20_57045667_T->C 20 57045667 57045667 T C snp 707.77 0/1 99 109 70 39 0.36 exonic rs1980576 APCDD1L AU synonymous SNV NM_153360 exon2 c.A186G p.T62T 0.459864 0.3978 0.430483 0.4982 0.4817 Uncertain 20_57045765_A->G 20 57045765 57045765 A G snp 255.77 0/1 99 50 36 14 0.28 exonic rs3946003 APCDD1L AU nonsynonymous SNV NM_153360 exon2 c.T88C p.C30R 0.460863 0.3998 0.406020 0.4632 0.4300 1 T 0.0 P -0.926 T 0.0 T 0.0 T Pathogenic 20_57244493_G->A 20 57244493 57244493 G A snp 1206.77 0/1 99 104 49 55 0.53 exonic rs2296524 STX16 AD synonymous SNV NM_001001433 exon5 c.G540A p.Q180Q 0.474441 0.4147 0.516386 0.5021 0.4549 Uncertain 20_57245425_G->A 20 57245425 57245425 G A snp 96.28 1/1 9 3 0 3 1.0 ncRNA_intronic rs4810142 STX16-NPEPL1 AU 1 1 Uncertain 20_57246480_-->TTA 20 57246480 57246480 - TTA indel 265.73 0/1 99 13 7 6 0.46 ncRNA_intronic rs11474130 STX16-NPEPL1 AU 0.369209 0.3016 Uncertain 20_57246493_G->T 20 57246493 57246493 G T snp 107.77 0/1 93 8 4 4 0.5 ncRNA_intronic rs6100160 STX16-NPEPL1 AU 0.391374 0.3383 Uncertain 20_57266592_C->G 20 57266592 57266592 C G snp 477.77 0/1 99 40 17 23 0.57 ncRNA_exonic rs6128401 STX16-NPEPL1 AU 0.296925 0.38 0.3280 0.5052 Uncertain 20_57266700_T->C 20 57266700 57266700 T C snp 43.77 0/1 68 4 2 2 0.5 ncRNA_intronic rs6123822 STX16-NPEPL1 AU 0.505591 0.4157 Uncertain 20_57266781_C->T 20 57266781 57266781 C T snp 539.77 0/1 99 35 16 19 0.54 ncRNA_exonic rs6128402 STX16-NPEPL1 AU 0.297324 0.381 0.3294 0.4431 Uncertain 20_57266913_T->C 20 57266913 57266913 T C snp 822.77 0/1 99 104 58 46 0.44 ncRNA_intronic rs6123823 STX16-NPEPL1 AU 0.270367 0.38 0.3214 0.4421 Uncertain 20_57267942_T->C 20 57267942 57267942 T C snp 698.77 0/1 99 68 35 33 0.49 ncRNA_intronic rs6092682 STX16-NPEPL1 AU 0.413538 0.3819 0.5469 . Uncertain 20_57268867_C->A 20 57268867 57268867 C A snp 1928.77 0/1 99 189 103 86 0.46 exonic rs3746396 NPEPL1 AU synonymous SNV NM_024663 exon2 c.C225A p.T75T 0.29992 0.376 0.335347 0.3531 0.4287 Uncertain 20_57268994_G->C 20 57268994 57268994 G C snp 430.77 0/1 99 29 15 14 0.48 ncRNA_intronic rs6100166 STX16-NPEPL1 AU 0.396166 0.38 0.416560 0.4603 0.4898 Uncertain 20_57273545_G->A 20 57273545 57273545 G A snp 357.77 0/1 99 23 11 12 0.52 ncRNA_intronic rs6092683 STX16-NPEPL1 AU 0.269768 0.3611 Uncertain 20_57273885_T->C 20 57273885 57273885 T C snp 2277.77 0/1 99 197 102 95 0.48 ncRNA_intronic rs2296526 STX16-NPEPL1 AU 0.61861 0.4256 0.712002 Uncertain 20_57274077_T->A 20 57274077 57274077 T A snp 149.77 0/1 99 12 6 6 0.5 ncRNA_intronic rs6092684 STX16-NPEPL1 AU 0.383187 0.3631 Uncertain 20_57274151_G->C 20 57274151 57274151 G C snp 722.77 0/1 99 57 27 30 0.53 ncRNA_intronic rs2296528 STX16-NPEPL1 AU 0.616214 0.4236 Uncertain 20_57275949_A->C 20 57275949 57275949 A C snp 804.77 1/1 60 28 0 28 1.0 ncRNA_intronic rs6070554 STX16-NPEPL1 AU 0.993211 1 Uncertain 20_57280575_T->C 20 57280575 57280575 T C snp 2190.77 0/1 99 194 98 96 0.49 ncRNA_exonic rs6100174 STX16-NPEPL1 AU 0.616414 0.4226 0.5504 0.5448 Uncertain 20_57287477_T->C 20 57287477 57287477 T C snp 528.77 0/1 99 46 22 24 0.52 ncRNA_intronic rs528880020 STX16-NPEPL1 AU 0.00119808 0.006 Uncertain 20_57288744_G->A 20 57288744 57288744 G A snp 383.77 0/1 99 45 29 16 0.36 ncRNA_intronic rs1570894 STX16-NPEPL1 AU 0.258586 0.3829 Uncertain 20_57290347_C->G 20 57290347 57290347 C G snp 535.77 0/1 99 44 21 23 0.52 exonic rs6026468 NPEPL1 AU nonsynonymous SNV NM_024663 exon12 c.C1537G p.L513V 0.666402 0.5730 0.4793 1 T 0.0 P -0.928 T 0.0 T 0.0 T Pathogenic 20_57292888_G->A 20 57292888 57292888 G A snp 1499.77 0/1 99 126 61 65 0.52 intergenic rs2426776 STX16-NPEPL1 AU 0.446685 0.4127 Uncertain 20_57293089_A->G 20 57293089 57293089 A G snp 2075.77 0/1 99 205 118 87 0.42 intergenic rs6026470 STX16-NPEPL1 AU 0.569688 0.4187 Uncertain 20_57293118_T->C 20 57293118 57293118 T C snp 2577.77 0/1 99 250 144 106 0.42 intergenic rs2426777 STX16-NPEPL1 AU 0.569289 0.4187 Uncertain 20_57293124_-->G 20 57293124 57293124 - G indel 4069.73 0/1 99 249 140 109 0.44 intergenic rs113568125 STX16-NPEPL1 AU 0.542332 0.4187 Uncertain 20_57293350_G->T 20 57293350 57293350 G T snp 1133.77 0/1 99 83 36 47 0.57 intergenic rs12480759 STX16-NPEPL1 AU 0.304912 0.3879 Uncertain 20_57299003_-->GAG 20 57299003 57299003 - GAG indel 409.73 0/1 99 36 10 26 0.72 intergenic rs767702274 STX16-NPEPL1 AU Uncertain 20_57299031_GAGGAGGAA->- 20 57299031 57299039 GAGGAGGAA - indel 960.73 0/1 99 25 16 9 0.36 intergenic rs201658287 STX16-NPEPL1 AU 0.627196 0.4444 Uncertain 20_57415110_A->G 20 57415110 57415110 A G snp 326.77 0/1 99 23 9 14 0.61 ncRNA_intronic rs1800900 GNAS-AS1 AD 0.597644 0.8065 0.568887 Uncertain 20_57415995_A->G 20 57415995 57415995 A G snp 1761.77 0/1 99 143 72 71 0.5 ncRNA_intronic rs1800905 GNAS-AS1 AD 0.59405 0.8065 Uncertain 20_57475191_A->G 20 57475191 57475191 A G snp 296.78 1/1 24 9 0 9 1.0 intronic rs13831 GNAS AU,AD,AO NM_000516 exon3 c.7259+1151A>G 0.797324 0.745 Uncertain 20_57478448_A->T 20 57478448 57478448 A T snp 500.77 1/1 39 14 0 14 1.0 intronic rs2295583 GNAS AU,AD,AO NM_001077488 exon4 c.11801-134A>T 0.232428 0.0942 Uncertain 20_57478807_C->T 20 57478807 57478807 C T snp 1705.77 0/1 99 155 81 74 0.48 exonic rs7121 GNAS AU,AD,AO synonymous SNV NM_000516 exon5 c.C393T p.I131I 0.644369 0.6716 0.579425 0.5473 0.6302 1.000 P -1.095 T ID=COSM3758662;OCCURENCE=1(large_intestine) ID=CM023931;DIS=Essential hypertension, association with;TAG=DP;PUB=10406816 DP Likely benign 20_57478939_G->A 20 57478939 57478939 G A snp 246.77 0/1 99 14 6 8 0.57 intronic rs3730168 GNAS AU,AD,AO NM_000516 exon5 c.12065+93G>A 0.352636 0.247 ID=COSN166583;OCCURENCE=1(haematopoietic_and_lymphoid_tissue) Uncertain 20_57556295_C->T 20 57556295 57556295 C T snp 1320.77 1/1 96 43 0 43 1.0 UTR5 rs151333 NELFCD AU 0.7579 0.75 Uncertain 20_57561416_T->G 20 57561416 57561416 T G snp 92.28 1/1 9 3 0 3 1.0 intronic rs6070683 NELFCD AU NM_198976 exon2 c.4953+153T>G 0.191294 0.1528 Uncertain 20_57565943_G->C 20 57565943 57565943 G C snp 4608.77 1/1 99 161 0 161 1.0 intronic rs163782 NELFCD AU NM_198976 exon8 c.9654-21G>C 0.827077 0.8641 0.808165 0.8047 0.8637 Uncertain 20_57566637_C->T 20 57566637 57566637 C T snp 1274.77 1/1 93 37 0 37 1.0 intronic rs149265 NELFCD AU NM_198976 exon9 c.10191+136C>T 0.640775 0.7768 Uncertain 20_57570568_G->A 20 57570568 57570568 G A snp 750.77 1/1 57 23 0 23 1.0 UTR3 rs13720 CTSZ AU 0.84365 0.8611 Uncertain 20_57571763_A->G 20 57571763 57571763 A G snp 6925.77 1/1 99 250 0 250 1.0 exonic rs9760 CTSZ AU synonymous SNV NM_001336 exon5 c.T732C p.S244S 0.698882 0.7798 0.668461 0.6407 0.7865 Uncertain 20_57572675_A->G 20 57572675 57572675 A G snp 1306.77 1/1 93 44 0 44 1.0 exonic rs163785 CTSZ AU synonymous SNV NM_001336 exon4 c.T621C p.Y207Y 0.999401 1 0.998001 0.9979 0.9999 Uncertain 20_57582285_-->CGGCCT 20 57582285 57582285 - CGGCCT indel 534.8 1/1 18 6 0 6 1.0 UTR5 rs71181993 CTSZ AU 0.560503 0.7688 Uncertain 20_57594474_T->C 20 57594474 57594474 T C snp 216.77 0/1 99 18 10 8 0.44 UTR5 rs139403002 TUBB1 AD 0.000798722 0.004 Uncertain 20_57599016_T->G 20 57599016 57599016 T G snp 3731.77 1/1 99 112 0 112 1.0 exonic rs163777 TUBB1 AD synonymous SNV NM_030773 exon4 c.T534G p.T178T 0.999002 1 0.998232 0.9977 1 Uncertain 20_57612390_C->G 20 57612390 57612390 C G snp 1378.77 1/1 99 49 0 49 1.0 ncRNA_intronic rs151359 SLMO2-ATP5E AU 0.717851 0.9028 0.625055 0.6965 0.9012 Uncertain 20_57828914_-->C 20 57828914 57828914 - C indel 511.73 1/1 65 26 0 26 1.0 intronic rs543563936 ZNF831 AU NM_178457 exon5 c.62878-38insC 0.223243 0.2738 0.4323 0.5119 Uncertain 20_57828923_A->C 20 57828923 57828923 A C snp 651.77 1/1 48 25 0 25 1.0 intronic rs259957 ZNF831 AU NM_178457 exon5 c.62878-29A>C 0.839257 0.9107 0.546916 0.7093 0.8897 Uncertain 20_57829301_T->C 20 57829301 57829301 T C snp 5158.77 1/1 99 195 0 195 1.0 exonic rs259956 ZNF831 AU nonsynonymous SNV NM_178457 exon5 c.T4537C p.S1513P 0.618211 0.9107 0.470787 0.5924 0.8915 1 T 0.0 P -0.976 T 0.0 T 0.0 T Pathogenic 20_57829821_-->TT 20 57829821 57829821 - TT indel 2669.73 1/1 99 55 0 55 1.0 UTR3 rs3041675 ZNF831 AU 0.61861 0.9107 0.480024 0.5937 0.8913 Uncertain 20_58322956_A->G 20 58322956 58322956 A G snp 36.77 0/1 36 4 2 2 0.5 intronic rs2277758 PHACTR3 AU NM_183244 exon3 c.4724+66A>G 0.254393 0.3631 Uncertain 20_58330128_G->C 20 58330128 58330128 G C snp 865.77 1/1 66 25 0 25 1.0 intronic rs1182477 PHACTR3 AU NM_183244 exon4 c.12070-108G>C 0.690895 0.6964 Uncertain 20_58342130_T->A 20 58342130 58342130 T A snp 197.77 0/1 99 12 4 8 0.67 intronic rs2426831 PHACTR3 AU NM_183244 exon5 c.24074-110T>A 0.495607 0.3204 Uncertain 20_58381269_C->T 20 58381269 58381269 C T snp 872.77 0/1 99 70 34 36 0.51 intronic rs2275389 PHACTR3 AU NM_183244 exon8 c.63083+20C>T 0.170327 0.4038 0.030063 0.0868 0.3991 Uncertain 20_58411441_T->C 20 58411441 58411441 T C snp 224.84 1/1 18 7 0 7 1.0 intronic rs2426849 PHACTR3 AU NM_183244 exon9 c.93393-118T>C 0.979633 1 Uncertain 20_58420336_G->A 20 58420336 58420336 G A snp 1715.77 0/1 99 201 115 86 0.43 intronic rs1416388 PHACTR3 AU NM_183244 exon12 c.102154+16G>A 0.722045 0.7569 0.650877 0.6042 0.7601 Uncertain 20_58425413_C->T 20 58425413 58425413 C T snp 2733.77 1/1 99 105 0 105 1.0 intergenic rs2865768 PHACTR3 AU 0.999601 1 Uncertain 20_58514793_C->T 20 58514793 58514793 C T snp 363.77 0/1 99 32 18 14 0.44 exonic PPP1R3D AU nonsynonymous SNV NM_006242 exon1 c.G194A p.R65Q 0.11 T 0.988 D -0.481 T 1.0 D 0.926 D Pathogenic 20_58560002_A->G 20 58560002 58560002 A G snp 968.77 0/1 99 70 33 37 0.53 intronic rs3761265 CDH26 AU NM_177980 exon7 c.26274-53A>G 0.013778 0.0516 Uncertain 20_58562730_G->A 20 58562730 58562730 G A snp 1298.77 0/1 99 99 48 51 0.52 intronic rs144199904 CDH26 AU NM_177980 exon8 c.28912+37G>A 0.00359425 0.0169 0.000154 0.0008 0.0096 Uncertain 20_58644995_T->C 20 58644995 58644995 T C snp 1394.77 0/1 99 115 65 50 0.43 UTR5 rs6071100 C20orf197 AU 0.502396 0.3839 0.614024 0.5251 0.3718 Uncertain 20_59091946_A->C 20 59091946 59091946 A C snp 119.78 0/1 27 6 1 5 0.83 intergenic rs6064934 MIR4533 AU 0.465455 0.3343 Uncertain 20_59224926_C->T 20 59224926 59224926 C T snp 654.77 0/1 99 36 12 24 0.67 intergenic rs846222 MIR548AG2 AU 0.17512 0.3313 Uncertain 20_59431578_ACACAC->- 20 59431578 59431583 ACACAC - indel 2730.73 1/1 82 72 3 69 0.96 intergenic rs564539395 MIR548AG2 AU 0.803714 0.8393 Uncertain 20_59793445_T->G 20 59793445 59793445 T G snp 1494.77 1/1 99 46 0 46 1.0 intergenic rs62199381 LOC100506470 AU 0.992412 1 Uncertain 20_59827499_CGG->- 20 59827499 59827501 CGG - indel 1102.73 1/1 66 22 0 22 1.0 UTR5 rs3048343 CDH4 AU 0.402756 0.4196 Uncertain 20_59827596_T->C 20 59827596 59827596 T C snp 589.77 0/1 99 59 27 32 0.54 exonic rs78216276 CDH4 AU synonymous SNV NM_001794 exon1 c.T27C p.L9L 0.0830671 0.1736 0.021751 0.0691 0 Uncertain 20_59829744_G->A 20 59829744 59829744 G A snp 549.77 0/1 99 40 21 19 0.47 intronic rs3752254 CDH4 AU NM_001794 exon2 c.2312-137G>A 0.0539137 0.1736 Uncertain 20_59908321_ACAC->- 20 59908321 59908324 ACAC - indel 2947.73 1/1 99 74 0 74 1.0 intronic rs57485020 CDH4 AU NM_001794 exon2 c.2424+78328_2424+78331delACAC 0.765575 0.7252 Uncertain 20_59908349_A->G 20 59908349 59908349 A G snp 1574.77 1/1 99 48 0 48 1.0 intronic rs11086735 CDH4 AU NM_001794 exon2 c.2424+78356A>G 0.586062 0.6964 Uncertain 20_59908377_T->C 20 59908377 59908377 T C snp 431.77 0/1 99 31 14 17 0.55 intronic rs11908491 CDH4 AU NM_001794 exon2 c.2424+78384T>C 0.172524 0.1875 Uncertain 20_60145672_T->G 20 60145672 60145672 T G snp 2485.77 1/1 99 93 0 93 1.0 intronic rs2252560 CDH4 AU NM_001252338 exon1 c.58+71124T>G 0.777556 0.8065 Uncertain 20_60293919_C->A 20 60293919 60293919 C A snp 6529.77 1/1 99 245 0 245 1.0 intronic rs2892179 CDH4 AU NM_001252338 exon2 c.244128-24699C>A 0.980831 1 0.9709 1 0.0 P -1.028 T Uncertain 20_60294246_-->T 20 60294246 60294246 - T indel 2334.73 1/1 99 115 4 111 0.97 intronic rs11440327 CDH4 AU NM_001252338 exon2 c.244128-24372insT 0.386981 0.4236 0.4033 0.3763 Uncertain 20_60294388_C->T 20 60294388 60294388 C T snp 48.74 1/1 6 2 0 2 1.0 intronic rs6089489 CDH4 AU NM_001252338 exon2 c.244128-24230C>T 0.315695 0.4177 Uncertain 20_60318561_T->C 20 60318561 60318561 T C snp 1862.77 0/1 99 127 55 72 0.57 intronic rs2297193 CDH4 AU NM_001252338 exon2 c.244128-57T>C 0.120607 0.2192 Uncertain 20_60485327_C->T 20 60485327 60485327 C T snp 541.77 1/1 42 14 0 14 1.0 intronic rs1776237 CDH4 AU NM_001252339 exon8 c.166806-150C>T 0.927117 1 Uncertain 20_60485627_C->T 20 60485627 60485627 C T snp 972.77 0/1 99 104 60 44 0.42 exonic rs2427240 CDH4 AU synonymous SNV NM_001794 exon9 c.C1338T p.D446D 0.704872 0.5367 0.830002 0.8515 0.5472 Uncertain 20_60498832_-->C 20 60498832 60498832 - C indel 629.73 1/1 54 29 0 29 1.0 intronic rs11484270 CDH4 AU NM_001252339 exon9 c.180091+70insC 0.603634 0.8423 Uncertain 20_60503066_A->G 20 60503066 60503066 A G snp 244.8 1/1 21 9 0 9 1.0 intronic rs1776264 CDH4 AU NM_001252339 exon11 c.184576-181A>G 0.994808 1 Uncertain 20_60503350_A->G 20 60503350 60503350 A G snp 7841.77 1/1 99 250 0 250 1.0 exonic rs6142884 CDH4 AU nonsynonymous SNV NM_001794 exon12 c.A1874G p.K625R 0.567292 0.8413 0.448024 0.5724 0.8548 0.001 P -0.973 T 0.0 T 0.001 T Pathogenic 20_60509209_C->T 20 60509209 60509209 C T snp 1450.77 0/1 99 97 41 56 0.58 exonic rs3753045 CDH4 AU synonymous SNV NM_001794 exon15 c.C2475T p.G825G 0.161342 0.1498 0.187135 0.2179 0.1566 Uncertain 20_60509387_T->A 20 60509387 60509387 T A snp 1760.77 ./1 99 62 0 62 1.0 intronic rs3827115 CDH4 AU NM_001252339 exon14 c.190607+109T>A 0.173522 0.1538 Uncertain 20_60509387_T->G 20 60509387 60509387 T G snp 1760.77 ./1 99 62 0 62 1.0 intronic rs3827115 CDH4 AU NM_001252339 exon14 c.190607+109T>G 0.467053 0.7083 Uncertain 20_60509388_G->A 20 60509388 60509388 G A snp 939.77 0/1 99 61 28 33 0.54 intronic rs4925316 CDH4 AU NM_001252339 exon14 c.190607+110G>A 0.172524 0.1528 Uncertain 20_60511734_A->G 20 60511734 60511734 A G snp 89.77 0/1 99 19 14 5 0.26 intronic rs4925209 CDH4 AU NM_001252339 exon15 c.193123-60A>G 0.178315 0.1339 Uncertain 20_60511737_T->C 20 60511737 60511737 T C snp 88.77 0/1 99 20 15 5 0.25 intronic rs4925323 CDH4 AU NM_001252339 exon15 c.193123-57T>C 0.178315 0.1339 Uncertain 20_60512028_G->C 20 60512028 60512028 G C snp 860.77 0/1 99 73 40 33 0.45 UTR3 rs3761222 CDH4 AU 0.270367 0.4107 0.186356 0.2782 0.4572 Uncertain 20_60572663_C->A 20 60572663 60572663 C A snp 992.77 0/1 99 72 30 42 0.58 exonic rs2296081 TAF4 AU synonymous SNV NM_003185 exon14 c.G3033T p.A1011A 0.587061 0.6528 0.608104 0.6131 0.6425 Uncertain 20_60573983_A->G 20 60573983 60573983 A G snp 135.77 0/1 99 13 8 5 0.38 intronic rs2296082 TAF4 AU NM_003185 exon4 c.22815-55A>G 0.409145 0.1974 Uncertain 20_60574216_C->T 20 60574216 60574216 C T snp 914.77 0/1 99 68 27 41 0.6 intronic rs2296083 TAF4 AU NM_003185 exon4 c.22941+52C>T 0.591853 0.6518 0.608773 0.6147 0.6422 Uncertain 20_60582540_T->A 20 60582540 60582540 T A snp 310.77 0/1 99 51 38 13 0.25 intronic rs2281735 TAF4 AU NM_003185 exon10 c.31379-62T>A 0.605831 0.6696 Uncertain 20_60697553_C->T 20 60697553 60697553 C T snp 80.77 0/1 67 5 2 3 0.6 UTR5 rs148560014 LSM14B AU 0.0549121 0.0387 Uncertain 20_60702503_G->T 20 60702503 60702503 G T snp 83.77 0/1 30 4 1 3 0.75 intronic rs6089656 LSM14B AU NM_144703 exon3 c.3773+1008G>T 0.626597 0.7679 Uncertain 20_60704117_A->G 20 60704117 60704117 A G snp 1296.77 1/1 96 44 0 44 1.0 intronic rs4925345 LSM14B AU NM_144703 exon4 c.7118-723A>G 0.941294 1 0.9884 1 Uncertain 20_60704185_T->C 20 60704185 60704185 T C snp 172.9 1/1 15 6 0 6 1.0 intronic rs4925346 LSM14B AU NM_144703 exon4 c.7118-655T>C 0.941494 1 Uncertain 20_60708216_G->A 20 60708216 60708216 G A snp 340.77 0/1 99 26 14 12 0.46 intronic rs6089657 LSM14B AU NM_144703 exon8 c.10623-129G>A 0.598243 0.7728 Uncertain 20_60712284_G->A 20 60712284 60712284 G A snp 341.77 0/1 99 24 11 13 0.54 intronic rs2057169 PSMA7 AU NM_002792 exon2 c.507-135G>A 0.598442 0.7738 Uncertain 20_60712347_G->A 20 60712347 60712347 G A snp 1437.77 0/1 99 105 48 57 0.54 intronic rs2057168 PSMA7 AU NM_002792 exon2 c.507-72G>A 0.598043 0.7728 Uncertain 20_60712511_A->G 20 60712511 60712511 A G snp 2865.77 0/1 99 243 121 122 0.5 intronic rs2281740 PSMA7 AU NM_002792 exon2 c.570+29A>G 0.686901 0.7748 0.698524 0.7654 0.7858 Uncertain 20_60713038_T->C 20 60713038 60713038 T C snp 38.78 0/1 27 3 1 2 0.67 intronic rs2281739 PSMA7 AU NM_002792 exon3 c.1314-188T>C 0.628195 0.7748 Uncertain 20_60713311_G->A 20 60713311 60713311 G A snp 2305.77 0/1 99 164 68 96 0.59 exonic rs7076 PSMA7 AU synonymous SNV NM_002792 exon5 c.C507T p.R169R 0.598243 0.7738 0.613179 0.7390 0.7851 1.0 P -1.013 T Likely benign 20_60713332_A->G 20 60713332 60713332 A G snp 3805.77 1/1 99 129 0 129 1.0 exonic rs1135961 PSMA7 AU synonymous SNV NM_002792 exon5 c.T486C p.G162G 0.85643 0.8165 0.873443 0.8524 0.8336 1.0 P -1.059 T Likely benign 20_60718420_C->T 20 60718420 60718420 C T snp 689.77 0/1 99 63 33 30 0.48 UTR5 rs3746651 PSMA7 AU 0.597843 0.7748 Uncertain 20_60768497_C->T 20 60768497 60768497 C T snp 2296.77 1/1 99 92 1 91 0.99 exonic rs2236527 MTG2 AU synonymous SNV NM_015666 exon2 c.C21T p.F7F 0.21845 0.4881 0.124789 0.1586 0.5167 Uncertain 20_60773041_G->C 20 60773041 60773041 G C snp 2333.77 1/1 99 81 1 80 0.99 intronic rs6062140 MTG2 AU NM_015666 exon4 c.4547+18G>C 0.41893 0.6696 0.327157 0.3731 0.6791 Uncertain 20_60773684_C->T 20 60773684 60773684 C T snp 2691.77 1/1 99 85 0 85 1.0 splicing rs4925355 MTG2 AU NM_015666 exon5 c.5213-5C>T 0.694489 0.8968 0.544210 0.6414 0.8776 Pathogenic 20_60774035_A->G 20 60774035 60774035 A G snp 3904.77 1/1 99 125 0 125 1.0 intronic rs6142990 MTG2 AU NM_015666 exon5 c.5432+127A>G 0.420727 0.6587 Uncertain 20_60776182_G->A 20 60776182 60776182 G A snp 385.77 1/1 30 11 0 11 1.0 UTR3 rs1054885 MTG2 AU 0.401358 0.6518 0.293428 0.3673 0.6853 Uncertain 20_60791404_C->T 20 60791404 60791404 C T snp 887.77 0/1 99 61 23 38 0.62 exonic rs3787429 HRH3 AU synonymous SNV NM_007232 exon3 c.G996A p.S332S 0.490415 0.3671 0.446140 0.5084 0.4088 Uncertain 20_60791422_C->T 20 60791422 60791422 C T snp 592.77 0/1 99 46 22 24 0.52 exonic rs3787430 HRH3 AU synonymous SNV NM_007232 exon3 c.G978A p.P326P 0.177915 0.1815 0.155082 0.2382 0.2576 Uncertain 20_60831300_G->A 20 60831300 60831300 G A snp 1517.77 1/1 99 54 0 54 1.0 intronic rs6089706 OSBPL2 AD NM_014835 exon2 c.37+23G>A 0.846446 0.9911 0.867523 0.8980 0.9939 Uncertain 20_60848248_G->T 20 60848248 60848248 G T snp 309.78 1/1 24 8 0 8 1.0 intronic rs6061476 OSBPL2 AD NM_014835 exon6 c.17124-116G>T 0.98143 1 Uncertain 20_60854054_A->G 20 60854054 60854054 A G snp 209.84 1/1 18 6 0 6 1.0 intronic rs6062188 OSBPL2 AD NM_014835 exon7 c.22972-158A>G 0.997404 0.9881 Uncertain 20_60856943_C->T 20 60856943 60856943 C T snp 1167.77 0/1 99 136 81 55 0.4 intronic rs2274939 OSBPL2 AD NM_014835 exon9 c.25695+8C>T 0.00838658 0.0208 0.000923 0.0077 0.0283 Uncertain 20_60859381_A->G 20 60859381 60859381 A G snp 1320.77 1/1 96 40 0 40 1.0 intronic rs4925225 OSBPL2 AD NM_014835 exon10 c.27985+156A>G 0.969449 0.9881 0.9901 0.9891 Uncertain 20_60859486_A->G 20 60859486 60859486 A G snp 54.74 1/1 6 2 0 2 1.0 intronic rs4925226 OSBPL2 AD NM_014835 exon10 c.27985+261A>G 0.969449 0.9881 Uncertain 20_60861782_A->G 20 60861782 60861782 A G snp 1357.77 1/1 99 40 0 40 1.0 intronic rs2297592 OSBPL2 AD NM_014835 exon11 c.30527+15A>G 0.420128 0.4375 0.460941 0.4378 0.4757 Uncertain 20_60879829_C->T 20 60879829 60879829 C T snp 336.78 1/1 27 9 0 9 1.0 intronic rs7264166 ADRM1 AU NM_007002 exon3 c.1009+196C>T 0.398363 0.4276 Uncertain 20_60881330_G->A 20 60881330 60881330 G A snp 5547.77 1/1 99 208 0 208 1.0 exonic rs2427273 ADRM1 AU synonymous SNV NM_001281437 exon3 c.G291A p.A97A 0.817891 0.9752 0.836229 0.8765 0.9816 Uncertain 20_60881643_T->C 20 60881643 60881643 T C snp 756.77 1/1 57 22 0 22 1.0 intronic rs2427274 ADRM1 AU NM_001281438 exon4 c.3079-60T>C 0.953874 1 Uncertain 20_60881780_T->C 20 60881780 60881780 T C snp 2194.77 1/1 99 88 1 87 0.99 exonic rs2427275 ADRM1 AU synonymous SNV NM_001281437 exon4 c.T414C p.L138L 0.962859 0.9841 0.968528 0.9887 0.9880 Uncertain 20_60882888_A->G 20 60882888 60882888 A G snp 2896.77 1/1 99 95 0 95 1.0 splicing rs2427278 ADRM1 AU NM_001281438 exon6 c.4260+4A>G 0.946685 0.9841 0.945696 0.9725 0.9881 Pathogenic 20_60883273_A->C 20 60883273 60883273 A C snp 314.77 0/1 99 18 5 13 0.72 intronic rs2236523 ADRM1 AU NM_001281438 exon7 c.4610+39A>C 0.391374 0.2887 0.412015 0.4266 0.3067 Uncertain 20_60883919_T->C 20 60883919 60883919 T C snp 44.74 1/1 6 2 0 2 1.0 downstream rs2427279 ADRM1 AU 0.9998 1 Uncertain 20_60885428_C->A 20 60885428 60885428 C A snp 934.77 0/1 99 103 62 41 0.4 intronic rs41310032 LAMA5 AU NM_005560 exon5 c.1083-46C>A 0.13778 0.1806 0.146567 0.1770 0.1959 Uncertain 20_60885448_A->G 20 60885448 60885448 A G snp 3191.82 1/1 99 113 0 113 1.0 intronic rs944897 LAMA5 AU NM_005560 exon5 c.1083-26A>G 0.973842 1 0.976112 0.9911 0.9994 Uncertain 20_60887581_G->A 20 60887581 60887581 G A snp 1615.77 0/1 99 150 82 68 0.45 exonic rs944895 LAMA5 AU nonsynonymous SNV NM_005560 exon68 c.C9235T p.R3079W 0.677117 0.7411 0.624326 0.6811 0.7383 0.01 T 0.0 P -0.903 T 0.983 D 0.545 D ID=CM088367;DIS=Body composition in African American women, association with;TAG=DP;PUB=18694491 DP Pathogenic 20_60888921_G->A 20 60888921 60888921 G A snp 402.77 0/1 99 29 12 17 0.59 intronic rs34102933 LAMA5 AU NM_005560 exon18 c.4467+63G>A Uncertain 20_60889313_A->C 20 60889313 60889313 A C snp 537.77 0/1 99 40 23 17 0.42 intronic rs72487383 LAMA5 AU NM_005560 exon19 c.4968-46A>C 0.228634 0.1825 0.293814 0.2847 0.1957 Uncertain 20_60890375_C->T 20 60890375 60890375 C T snp 188.77 0/1 99 12 6 6 0.5 intronic rs6062210 LAMA5 AU NM_005560 exon22 c.5872+112C>T 0.726637 0.8175 Uncertain 20_60891288_A->G 20 60891288 60891288 A G snp 235.77 1/1 18 7 0 7 1.0 intronic rs2065578 LAMA5 AU NM_005560 exon23 c.6723+174A>G 0.973243 1 Uncertain 20_60892172_T->C 20 60892172 60892172 T C snp 38.78 0/1 27 3 1 2 0.67 intronic rs2236520 LAMA5 AU NM_005560 exon25 c.7688+93T>C 0.25 0.1905 Uncertain 20_60892526_A->G 20 60892526 60892526 A G snp 3867.77 1/1 99 149 2 147 0.99 exonic rs2427281 LAMA5 AU synonymous SNV NM_005560 exon55 c.T7386C p.D2462D 0.999201 1 0.999456 0.9998 1 Uncertain 20_60892692_C->T 20 60892692 60892692 C T snp 1638.77 1/1 99 56 0 56 1.0 intronic rs6062216 LAMA5 AU NM_005560 exon27 c.8326-25C>T 0.868411 0.9702 0.881352 0.8886 0.9797 Uncertain 20_60893416_C->T 20 60893416 60893416 C T snp 152.77 0/1 99 12 6 6 0.5 intronic rs149730480 LAMA5 AU NM_005560 exon28 c.9118-93C>T 0.214058 0.1766 Uncertain 20_60893420_G->A 20 60893420 60893420 G A snp 209.77 0/1 99 17 9 8 0.47 intronic rs115031510 LAMA5 AU NM_005560 exon28 c.9118-89G>A 0.229233 0.1776 Uncertain 20_60893458_A->G 20 60893458 60893458 A G snp 761.77 0/1 99 39 13 26 0.67 intronic rs73144993 LAMA5 AU NM_005560 exon28 c.9118-51A>G 0.236022 0.1825 0.287557 Uncertain 20_60893506_T->G 20 60893506 60893506 T G snp 1301.77 0/1 99 85 31 54 0.64 splicing rs113604626 LAMA5 AU NM_005560 exon28 c.9118-3T>G 0.21845 0.1825 0.275217 0.2686 0.1973 Pathogenic 20_60893979_C->T 20 60893979 60893979 C T snp 1473.77 0/1 99 147 82 65 0.44 exonic rs141245936 LAMA5 AU nonsynonymous SNV NM_005560 exon52 c.G6962A p.R2321Q 0.0195687 0.0317 0.007672 0.0214 0.0491 0.17 T 1.000 N -1.017 T 0.3 T 0.06 T ID=COSM1028866;OCCURENCE=1(stomach),1(endometrium) Pathogenic 20_60894870_C->T 20 60894870 60894870 C T snp 656.77 0/1 99 76 46 30 0.39 intronic rs73149117 LAMA5 AU NM_005560 exon30 c.10460+19C>T 0.21885 0.1766 0.248525 0.2821 0.2397 Uncertain 20_60895697_C->T 20 60895697 60895697 C T snp 780.77 0/1 99 57 25 32 0.56 exonic rs2297587 LAMA5 AU nonsynonymous SNV NM_005560 exon50 c.G6677A p.R2226H 0.186701 0.1855 0.217125 0.2301 0.2212 0.53 T 0.000 P -0.913 T 0.027 T 0.005 T Pathogenic 20_60895738_A->G 20 60895738 60895738 A G snp 2153.77 1/1 99 81 0 81 1.0 intronic rs6089346 LAMA5 AU NM_005560 exon31 c.11334+13A>G 0.857029 0.9802 0.883403 0.9118 0.9837 Uncertain 20_60897071_A->G 20 60897071 60897071 A G snp 912.77 0/1 99 73 32 41 0.56 splicing rs2274936 LAMA5 AU NM_005560 exon33 c.12683-3A>G 0.822284 0.9385 0.857441 0.8744 0.9470 Pathogenic 20_60897488_G->A 20 60897488 60897488 G A snp 744.77 0/1 99 66 32 34 0.52 exonic rs2274933 LAMA5 AU synonymous SNV NM_005560 exon47 c.C6183T p.F2061F 0.169329 0.1885 0.177427 0.2529 0.2618 Uncertain 20_60897561_C->G 20 60897561 60897561 C G snp 211.77 0/1 99 28 18 10 0.36 intronic rs76706776 LAMA5 AU NM_005560 exon34 c.13114+56C>G 0.152756 0.1885 Uncertain 20_60897562_C->A 20 60897562 60897562 C A snp 211.77 0/1 99 28 18 10 0.36 intronic rs75875081 LAMA5 AU NM_005560 exon34 c.13114+57C>A 0.152756 0.1885 Uncertain 20_60897570_C->G 20 60897570 60897570 C G snp 203.77 0/1 99 28 18 10 0.36 intronic rs71323580 LAMA5 AU NM_005560 exon34 c.13114+65C>G 0.152556 0.1885 Uncertain 20_60897772_T->C 20 60897772 60897772 T C snp 151.77 0/1 99 19 10 9 0.47 exonic rs6143021 LAMA5 AU nonsynonymous SNV NM_005560 exon46 c.A6107G p.H2036R 0.198482 0.1885 0.206112 0.3307 0.3067 0.4 T 0.049 P -0.957 T 0.0 T 0.001 T Pathogenic 20_60898505_C->T 20 60898505 60898505 C T snp 517.77 0/1 99 40 19 21 0.53 intronic rs2379128 LAMA5 AU NM_005560 exon36 c.14120-6C>T 0.623403 0.7907 0.625235 0.6867 0.7943 Uncertain 20_60899182_C->T 20 60899182 60899182 C T snp 915.77 0/1 99 82 42 40 0.49 exonic rs11698080 LAMA5 AU nonsynonymous SNV NM_005560 exon43 c.G5722A p.A1908T 0.215056 0.1895 0.237303 0.2266 0.2006 0.45 T 0.001 P -1.018 T 0.106 T 0.009 T Pathogenic 20_60899206_C->T 20 60899206 60899206 C T snp 1101.77 0/1 99 96 46 50 0.52 exonic rs2427283 LAMA5 AU nonsynonymous SNV NM_005560 exon43 c.G5698A p.V1900M 0.66274 0.7907 0.647272 0.6848 0.7839 0.13 T 0.000 P -0.986 T 0.839 T 0.231 P Pathogenic 20_60899422_C->T 20 60899422 60899422 C T snp 871.77 0/1 99 66 36 30 0.45 intronic rs34599961 LAMA5 AU NM_005560 exon39 c.15105-74C>T 0.190895 0.1438 Uncertain 20_60900481_A->G 20 60900481 60900481 A G snp 3392.77 1/1 99 125 0 125 1.0 exonic rs2427284 LAMA5 AU nonsynonymous SNV NM_005560 exon41 c.T5420C p.F1807S 0.89397 0.9802 0.915615 0.9185 0.9835 1 T 1.0 P -0.950 T 0.0 T 0.0 T Pathogenic 20_60900579_C->A 20 60900579 60900579 C A snp 6532.77 1/1 99 246 1 245 1.0 exonic rs2427285 LAMA5 AU synonymous SNV NM_005560 exon41 c.G5322T p.T1774T 0.89397 0.9802 0.915475 0.9186 0.9835 Uncertain 20_60902214_G->A 20 60902214 60902214 G A snp 467.77 1/1 36 16 0 16 1.0 intronic rs944894 LAMA5 AU NM_005560 exon43 c.17897-74G>A 0.90655 0.9802 Uncertain 20_60902490_C->T 20 60902490 60902490 C T snp 7630.77 1/1 99 250 0 250 1.0 intronic rs944892 LAMA5 AU NM_005560 exon43 c.18071+28C>T 0.877796 0.9802 0.887958 0.8963 0.9835 Uncertain 20_60902544_A->C 20 60902544 60902544 A C snp 7856.77 1/1 99 250 0 250 1.0 intronic rs944891 LAMA5 AU NM_005560 exon44 c.18193-40A>C 0.869209 0.9802 0.881209 0.8933 0.9837 Uncertain 20_60902883_C->T 20 60902883 60902883 C T snp 3187.75 1/1 99 120 0 120 1.0 intronic rs4925375 LAMA5 AU NM_005560 exon45 c.18530-38C>T 0.712859 0.874 0.665587 0.7191 0.8809 Uncertain 20_60904422_CAGCC->- 20 60904422 60904426 CAGCC - indel 863.73 1/1 39 34 0 34 1.0 intronic rs3065756 LAMA5 AU NM_005560 exon48 c.19918+113_19918+117delCAGCC 0.669928 0.7738 Uncertain 20_60904853_T->C 20 60904853 60904853 T C snp 3802.77 1/1 99 143 0 143 1.0 exonic rs2427286 LAMA5 AU nonsynonymous SNV NM_005560 exon32 c.A4099G p.K1367E 0.908746 0.9792 0.930633 0.9227 0.9837 1 T 1.0 P -0.962 T 0.0 T 0.0 T Pathogenic 20_60905717_T->C 20 60905717 60905717 T C snp 1607.77 0/1 99 121 55 66 0.55 intronic rs2095235 LAMA5 AU NM_005560 exon50 c.21279+47T>C 0.702077 0.9365 0.732837 0.8251 0.9503 Uncertain 20_60905878_A->G 20 60905878 60905878 A G snp 674.77 0/1 99 65 36 29 0.45 exonic rs3810548 LAMA5 AU nonsynonymous SNV NM_005560 exon30 c.T3773C p.M1258T 0.756589 0.9365 0.806558 0.8510 0.9482 0.64 T 0.000 P -1.038 T 0.0 T 0.0 T Pathogenic 20_60906055_C->T 20 60906055 60906055 C T snp 1794.77 0/1 99 145 67 78 0.54 intronic rs73613564 LAMA5 AU NM_005560 exon52 c.21696-32C>T 0.491613 0.7361 0.473639 0.6753 0.7836 Uncertain 20_60906269_C->T 20 60906269 60906269 C T snp 82.77 0/1 99 9 4 5 0.56 intronic rs35653162 LAMA5 AU NM_005560 exon52 c.21794+84C>T Uncertain 20_60907446_T->C 20 60907446 60907446 T C snp 1521.77 0/1 99 124 57 67 0.54 exonic rs2151513 LAMA5 AU synonymous SNV NM_005560 exon28 c.A3534G p.E1178E 0.731629 0.9375 0.768953 0.8570 0.9484 Uncertain 20_60907675_G->A 20 60907675 60907675 G A snp 1607.77 0/1 99 147 76 71 0.48 exonic rs6142734 LAMA5 AU synonymous SNV NM_005560 exon27 c.C3381T p.A1127A 0.701278 0.9355 0.729292 0.8305 0.9485 Uncertain 20_60908964_G->A 20 60908964 60908964 G A snp 1115.77 0/1 99 108 58 50 0.46 exonic rs13044266 LAMA5 AU synonymous SNV NM_005560 exon23 c.C2871T p.C957C 0.721446 0.9365 0.746202 0.8465 0.9418 Uncertain 20_60908969_T->C 20 60908969 60908969 T C snp 1125.77 0/1 99 117 64 53 0.45 exonic rs13042941 LAMA5 AU nonsynonymous SNV NM_005560 exon23 c.A2866G p.T956A 0.721246 0.9355 0.747912 0.8464 0.9430 0.89 T 0.0 P -0.954 T 0.0 T 0.0 T Pathogenic 20_60909060_A->G 20 60909060 60909060 A G snp 2442.77 0/1 99 218 109 109 0.5 exonic rs13038331 LAMA5 AU synonymous SNV NM_005560 exon23 c.T2775C p.P925P 0.756589 0.9365 0.796921 0.8586 0.9475 Uncertain 20_60909316_C->T 20 60909316 60909316 C T snp 1101.77 0/1 99 106 62 44 0.42 exonic rs6062223 LAMA5 AU nonsynonymous SNV NM_005560 exon22 c.G2665A p.V889M 0.108826 0.0427 0.093140 0.0572 0.0383 0.06 T 1.000 P -1.079 T 0.993 D 0.702 D Pathogenic 20_60909466_G->A 20 60909466 60909466 G A snp 239.77 0/1 99 13 5 8 0.62 intronic rs2379127 LAMA5 AU NM_005560 exon59 c.25007+68G>A 0.71885 0.9365 Uncertain 20_60909518_G->T 20 60909518 60909518 G T snp 161.77 0/1 66 10 4 6 0.6 intronic rs1105019 LAMA5 AU NM_005560 exon60 c.25186-59G>T 0.701677 0.9365 Uncertain 20_60909798_G->A 20 60909798 60909798 G A snp 203.77 0/1 63 11 3 8 0.73 intronic LAMA5 AU NM_005560 exon60 c.25286+121G>A Uncertain 20_60909809_-->AGGGCTCAGGGCGAGGGCG 20 60909809 60909809 - AGGGCTCAGGGCGAGGGCG indel 1194.74 1/1 30 10 0 10 1.0 intronic rs369902633 LAMA5 AU NM_005560 exon60 c.25286+132insAGGGCTCAGGGCGAGGGCG Uncertain 20_60909974_T->C 20 60909974 60909974 T C snp 1071.77 0/1 99 79 38 41 0.52 intronic rs12625368 LAMA5 AU NM_005560 exon61 c.25685-102T>C 0.756789 0.9365 Uncertain 20_60911958_G->A 20 60911958 60911958 G A snp 3285.77 0/1 99 250 122 128 0.51 intronic rs2890083 LAMA5 AU NM_005560 exon64 c.27451+116G>A 0.496006 0.7321 0.6029 0.7747 Uncertain 20_60912193_G->T 20 60912193 60912193 G T snp 77.77 0/1 67 5 2 3 0.6 intronic rs536602377 LAMA5 AU NM_005560 exon64 c.27451+351G>T 0.000199681 0.001 Uncertain 20_60912683_T->C 20 60912683 60912683 T C snp 1001.77 0/1 99 79 42 37 0.47 exonic rs2427289 LAMA5 AU synonymous SNV NM_005560 exon16 c.A2127G p.T709T 0.740815 0.9365 0.780037 0.8587 0.9489 Uncertain 20_60913495_T->C 20 60913495 60913495 T C snp 1828.77 0/1 99 168 82 86 0.51 intronic rs2151512 LAMA5 AU NM_005560 exon69 c.29132-28T>C 0.50619 0.7331 0.517634 0.6534 0.7556 Uncertain 20_60917294_G->A 20 60917294 60917294 G A snp 119.77 0/1 99 9 4 5 0.56 intronic rs4925380 LAMA5 AU NM_005560 exon70 c.36482-3579G>A 0.512979 0.7341 0.6772 0.7411 Uncertain 20_60920624_A->G 20 60920624 60920624 A G snp 607.77 0/1 99 37 15 22 0.59 intronic rs4925385 LAMA5 AU NM_005560 exon70 c.36482-249A>G 0.522963 0.7401 0.6327 0.6970 0 D 0.0 P -0.882 T Uncertain 20_60920887_G->A 20 60920887 60920887 G A snp 1037.77 0/1 99 91 46 45 0.49 exonic rs11204472 LAMA5 AU synonymous SNV NM_005560 exon11 c.C1464T p.A488A 0.522564 0.7401 0.539038 0.6030 0.7400 Uncertain 20_60921044_T->C 20 60921044 60921044 T C snp 828.77 0/1 99 47 20 27 0.57 intronic rs4925386 LAMA5 AU NM_005560 exon71 c.36745-92T>C 0.542133 0.7411 ID=CR121032;DIS=Colorectal cancer, increased risk, association with;TAG=DP;PUB=21761138 DP Uncertain 20_60921643_T->C 20 60921643 60921643 T C snp 1536.77 0/1 99 126 71 55 0.44 exonic rs4925229 LAMA5 AU nonsynonymous SNV NM_005560 exon9 c.A1201G p.T401A 0.859425 0.9613 0.879172 0.9437 0.9676 0.41 T 0.914 P -0.943 T 0.4 T 0.113 T Pathogenic 20_60921701_A->G 20 60921701 60921701 A G snp 2305.77 0/1 99 192 102 90 0.47 intronic rs4925387 LAMA5 AU NM_005560 exon73 c.37346-36A>G 0.898163 0.9613 0.914833 0.9497 0.9678 Uncertain 20_60921896_A->G 20 60921896 60921896 A G snp 3136.77 0/1 99 245 111 134 0.55 intronic rs4925388 LAMA5 AU NM_005560 exon73 c.37465+40A>G 0.857029 0.9613 0.875539 0.9375 0.9679 Uncertain 20_60926610_C->T 20 60926610 60926610 C T snp 44.77 0/1 33 3 1 2 0.67 intronic rs637984 LAMA5 AU NM_005560 exon75 c.42368-149C>T 0.857428 0.9603 Uncertain 20_60927349_C->T 20 60927349 60927349 C T snp 1615.77 0/1 99 151 78 73 0.48 exonic rs483876 LAMA5 AU synonymous SNV NM_005560 exon4 c.G636A p.A212A 0.751198 0.9405 0.792904 0.8605 0.9490 Uncertain 20_60927412_G->A 20 60927412 60927412 G A snp 1258.77 0/1 99 130 67 63 0.48 exonic rs624313 LAMA5 AU synonymous SNV NM_005560 exon4 c.C573T p.S191S 0.51897 0.7341 0.515878 0.6360 0.7465 Uncertain 20_60927482_G->A 20 60927482 60927482 G A snp 779.77 0/1 99 48 20 28 0.58 intronic rs482220 LAMA5 AU NM_005560 exon77 c.43025+66G>A 0.523762 0.7341 Uncertain 20_60927538_C->T 20 60927538 60927538 C T snp 236.77 0/1 99 15 6 9 0.6 intronic rs623834 LAMA5 AU NM_005560 exon77 c.43025+122C>T 0.467053 0.7341 Uncertain 20_60927551_A->G 20 60927551 60927551 A G snp 201.77 0/1 63 12 4 8 0.67 intronic rs482010 LAMA5 AU NM_005560 exon77 c.43025+135A>G 0.519569 0.7341 Uncertain 20_60937597_A->G 20 60937597 60937597 A G snp 1587.77 1/1 99 51 0 51 1.0 exonic rs477859 LAMA5 AU synonymous SNV NM_005560 exon2 c.T309C p.C103C 0.829673 0.8938 0.777744 0.8162 0.8985 Uncertain 20_60962624_T->C 20 60962624 60962624 T C snp 790.77 0/1 99 53 22 31 0.58 intronic rs755726 RPS21 AU NM_001024 exon3 c.272-42T>C 0.406749 0.1558 0.424112 0.3769 0.1455 Uncertain 20_60963188_G->C 20 60963188 60963188 G C snp 71.77 0/1 99 7 4 3 0.43 intronic rs6121395 RPS21 AU NM_001024 exon5 c.970-176G>C 0.577875 0.1567 Uncertain 20_60966318_G->T 20 60966318 60966318 G T snp 1472.77 0/1 99 113 55 58 0.51 exonic rs6089219 CABLES2 AU nonsynonymous SNV NM_031215 exon9 c.C1283A p.T428K 0.902556 0.7004 0.944795 0.9090 0.6892 1 T 0.001 P -0.953 T 0.0 T 0.003 T Pathogenic 20_60966520_A->T 20 60966520 60966520 A T snp 997.77 0/1 99 93 53 40 0.43 intronic rs78388542 CABLES2 AU NM_031215 exon2 c.483+11A>T 0.0265575 0.0317 0.007458 0.0228 0.0285 Uncertain 20_60968596_A->G 20 60968596 60968596 A G snp 2437.77 0/1 99 219 113 106 0.48 exonic rs1570027 CABLES2 AU synonymous SNV NM_031215 exon6 c.T780C p.H260H 0.202476 0.1498 0.227049 0.2112 0.1386 0.000 P -1.056 T Likely benign 20_60969451_C->T 20 60969451 60969451 C T snp 111.77 0/1 99 9 5 4 0.44 intronic rs2427308 CABLES2 AU NM_031215 exon6 c.3295+130C>T 0.202476 0.1498 Uncertain 20_60969886_G->T 20 60969886 60969886 G T snp 179.77 0/1 99 13 5 8 0.62 intronic rs2427309 CABLES2 AU NM_031215 exon7 c.3966-106G>T 0.593051 0.1597 Uncertain 20_60969929_C->G 20 60969929 60969929 C G snp 299.77 0/1 99 32 18 14 0.44 intronic rs2427310 CABLES2 AU NM_031215 exon7 c.3966-63C>G 0.464457 0.1577 Uncertain 20_60970123_A->G 20 60970123 60970123 A G snp 411.77 0/1 99 42 23 19 0.45 intronic rs2427311 CABLES2 AU NM_031215 exon7 c.4044+53A>G 0.369209 0.1587 0.367047 Uncertain 20_60971327_A->C 20 60971327 60971327 A C snp 914.77 0/1 99 47 19 28 0.6 intronic rs748037 CABLES2 AU NM_031215 exon8 c.5344-43A>C 0.570288 0.1617 0.658773 0.5411 0.1480 Uncertain 20_60986080_G->A 20 60986080 60986080 G A snp 1516.77 0/1 99 120 55 65 0.54 intronic rs73143477 RBBP8NL AU NM_080833 exon1 c.119+28G>A 0.0165735 0.0327 0.006228 0.0187 0.0247 Uncertain 20_60992224_T->C 20 60992224 60992224 T C snp 1334.77 1/1 96 49 0 49 1.0 intronic rs2427325 RBBP8NL AU NM_080833 exon11 c.6346-55T>C 0.461262 0.6349 Uncertain 20_60992402_G->A 20 60992402 60992402 G A snp 1044.77 1/1 75 38 0 38 1.0 intronic rs6061521 RBBP8NL AU NM_080833 exon11 c.6442+27G>A 0.448083 0.6429 0.359146 0.5162 0.6806 Uncertain 20_61039958_T->C 20 61039958 61039958 T C snp 623.77 0/1 99 57 27 30 0.53 exonic GATA5 AU synonymous SNV NM_080473 exon7 c.A1128G p.P376P 0.629193 0.5238 0.600600 0.5504 0.5205 Uncertain 20_61040313_G->T 20 61040313 61040313 G T snp 77.77 0/1 99 7 4 3 0.43 intronic GATA5 AU NM_080473 exon2 c.504-82G>T 0.405551 0.4107 Uncertain 20_61040453_C->G 20 61040453 61040453 C G snp 1476.77 1/1 99 54 0 54 1.0 exonic GATA5 AU synonymous SNV NM_080473 exon6 c.G981C p.S327S 0.534545 0.4613 0.539462 0.4965 0.4920 Uncertain 20_61040951_C->T 20 61040951 61040951 C T snp 775.77 0/1 99 61 35 26 0.43 exonic GATA5 AU synonymous SNV NM_080473 exon5 c.G852A p.K284K 0.529553 0.4315 0.536022 0.5461 0.5244 Uncertain 20_61041653_G->C 20 61041653 61041653 G C snp 685.77 0/1 99 58 27 31 0.53 intronic GATA5 AU NM_080473 exon4 c.1716+46G>C 0.420327 0.1915 0.414987 0.4705 0.1784 Uncertain 20_61041687_C->T 20 61041687 61041687 C T snp 455.77 0/1 99 35 17 18 0.51 intronic GATA5 AU NM_080473 exon4 c.1716+80C>T 0.328275 0.1528 Uncertain 20_61050379_T->G 20 61050379 61050379 T G snp 2809.77 1/1 99 103 0 103 1.0 exonic GATA5 AU nonsynonymous SNV NM_080473 exon2 c.A199C p.T67P 0.142572 0.1042 0.2564 . 1 T 0.052 P -0.686 T 0.0 T 0.002 T Pathogenic 20_61143279_T->C 20 61143279 61143279 T C snp 473.77 1/1 36 12 0 12 1.0 ncRNA_exonic rs7271454 C20orf166-AS1 AU 0.552915 0.7024 Uncertain 20_61143364_T->C 20 61143364 61143364 T C snp 4101.77 1/1 99 136 0 136 1.0 ncRNA_exonic rs12625668 C20orf166-AS1 AU 0.28115 0.4613 Uncertain 20_61143487_T->C 20 61143487 61143487 T C snp 7600.77 1/1 99 250 0 250 1.0 ncRNA_exonic rs3934574 C20orf166-AS1 AU 0.551518 0.6994 0.532754 0.5605 0.6821 Uncertain 20_61143945_T->G 20 61143945 61143945 T G snp 1361.77 1/1 99 40 0 40 1.0 ncRNA_exonic rs3934573 C20orf166-AS1 AU 0.497204 0.6994 Uncertain 20_61150928_A->G 20 61150928 61150928 A G snp 974.77 1/1 72 30 0 30 1.0 intronic MIR1-1HG AU NM_178463 exon2 c.8+56A>G 0.567292 0.6825 Uncertain 20_61150997_C->T 20 61150997 61150997 C T snp 101.28 1/1 9 4 0 4 1.0 intronic MIR1-1HG AU NM_178463 exon2 c.8+125C>T 0.298323 0.4931 Uncertain 20_61273717_G->C 20 61273717 61273717 G C snp 933.77 1/1 69 33 0 33 1.0 upstream rs6122141 SLCO4A1 AU 0.515575 0.7421 0.6313 0.7768 Uncertain 20_61287727_G->A 20 61287727 61287727 G A snp 180.9 1/1 15 5 0 5 1.0 UTR5 rs3187081 SLCO4A1 AU 0.564497 0.8036 Uncertain 20_61289958_G->A 20 61289958 61289958 G A snp 1891.77 1/1 99 62 0 62 1.0 intronic rs2427369 SLCO4A1 AU NM_016354 exon3 c.2222-70G>A 0.715655 0.8998 Uncertain 20_61292373_-->AGCCCCC 20 61292373 61292373 - AGCCCCC indel 1124.73 1/1 42 14 0 14 1.0 intronic rs144381587 SLCO4A1 AU NM_016354 exon5 c.4609-42insAGCCCCC 0.877396 0.9534 0.9261 0.9791 Uncertain 20_61297775_C->T 20 61297775 61297775 C T snp 1640.77 0/1 99 143 70 73 0.51 exonic rs769491720 SLCO4A1 AU synonymous SNV NM_016354 exon7 c.C1320T p.G440G 3.326e-05 0.0002 Uncertain 20_61326276_G->A 20 61326276 61326276 G A snp 819.77 0/1 99 58 24 34 0.59 intergenic rs2427393 SLCO4A1 AU 0.243211 0.25 Uncertain 20_61326380_C->T 20 61326380 61326380 C T snp 6332.77 1/1 99 243 1 242 1.0 intergenic rs2427394 SLCO4A1 AU 0.944089 1 0 D -1.018 T Uncertain 20_61326636_G->A 20 61326636 61326636 G A snp 971.77 0/1 99 91 51 40 0.44 intergenic rs13036933 SLCO4A1 AU 0.239816 0.3542 Uncertain 20_61331678_C->A 20 61331678 61331678 C A snp 682.77 0/1 99 66 37 29 0.44 intergenic rs4809531 SLCO4A1 AU 0.586861 0.75 Uncertain 20_61389527_A->G 20 61389527 61389527 A G snp 49.74 1/1 6 2 0 2 1.0 intronic rs1969663 NTSR1 AU NM_002531 exon3 c.49058-90A>G 0.00139776 0.001 Uncertain 20_61389531_G->C 20 61389531 61389531 G C snp 127.03 1/1 12 4 0 4 1.0 intronic rs1969664 NTSR1 AU NM_002531 exon3 c.49058-86G>C Uncertain 20_61389565_G->A 20 61389565 61389565 G A snp 561.41 1/1 8 19 1 18 0.95 intronic rs79490068 NTSR1 AU NM_002531 exon3 c.49058-52G>A Uncertain 20_61389566_C->T 20 61389566 61389566 C T snp 660.77 1/1 51 19 0 19 1.0 intronic rs2427439 NTSR1 AU NM_002531 exon3 c.49058-51C>T 0.602037 0.7034 Uncertain 20_61389569_C->G 20 61389569 61389569 C G snp 639.03 1/1 12 20 1 19 0.95 intronic rs62198382 NTSR1 AU NM_002531 exon3 c.49058-48C>G 0.0457268 0.0278 Uncertain 20_61428423_A->C 20 61428423 61428423 A C snp 1206.77 0/1 99 106 56 50 0.47 intronic rs11696245 MRGBP AU NM_018270 exon2 c.586-38A>C 0.632188 0.6161 0.572572 0.5298 0.6050 Uncertain 20_61429925_C->G 20 61429925 61429925 C G snp 2175.77 0/1 99 198 102 96 0.48 intronic rs2294982 MRGBP AU NM_018270 exon3 c.2063-13C>G 0.0479233 0.1478 0.013225 0.0376 0.1624 Uncertain 20_61430729_G->A 20 61430729 61430729 G A snp 792.77 0/1 99 50 22 28 0.56 intronic rs76839923 MRGBP AU NM_018270 exon5 c.2932-78G>A 0.0589058 0.1478 Uncertain 20_61441059_AG->- 20 61441059 61441060 AG - indel 3211.73 0/1 99 108 36 72 0.67 intronic rs3833337 OGFR AU NM_007346 exon4 c.4804+44_4804+45delAG 0.022815 0.0642 0.3067 Uncertain 20_61442996_C->T 20 61442996 61442996 C T snp 500.77 0/1 99 69 50 19 0.28 intronic rs2075775 OGFR AU NM_007346 exon6 c.6751+34C>T 0.0860623 0.2808 0.018105 0.0759 0.3934 Uncertain 20_61444584_G->A 20 61444584 61444584 G A snp 380.77 0/1 99 21 8 13 0.62 exonic rs372675210 OGFR AU synonymous SNV NM_007346 exon7 c.G1617A p.S539S 0.00199681 0.0089 0.000475 0.0005 0.0048 Uncertain 20_61448933_C->A 20 61448933 61448933 C A snp 1526.77 0/1 99 127 58 69 0.54 exonic rs2273078 COL9A3 AU,AD synonymous SNV NM_001853 exon2 c.C93A p.P31P 0.160543 0.251 0.088387 0.1190 0.3174 Uncertain 20_61449141_G->A 20 61449141 61449141 G A snp 1389.77 0/1 99 83 34 49 0.59 intronic rs2273081 COL9A3 AU,AD NM_001853 exon2 c.571+154G>A 0.0511182 0.1319 0.0350 0.1419 Uncertain 20_61449389_G->A 20 61449389 61449389 G A snp 40.77 0/1 69 5 3 2 0.4 intronic rs2294985 COL9A3 AU,AD NM_001853 exon2 c.571+402G>A 0.0451278 0.1339 Uncertain 20_61452705_C->G 20 61452705 61452705 C G snp 573.77 0/1 99 53 30 23 0.43 intronic rs3765461 COL9A3 AU,AD NM_001853 exon6 c.4152+137C>G 0.0429313 0.1171 Uncertain 20_61453348_T->G 20 61453348 61453348 T G snp 487.77 0/1 99 39 21 18 0.46 intronic rs8114983 COL9A3 AU,AD NM_001853 exon9 c.5046-114T>G 0.490815 0.3839 Uncertain 20_61453549_G->A 20 61453549 61453549 G A snp 998.77 0/1 99 94 49 45 0.48 intronic rs2294988 COL9A3 AU,AD NM_001853 exon9 c.5100+33G>A 0.234026 0.2163 0.273462 0.2959 0.2562 Uncertain 20_61453755_G->A 20 61453755 61453755 G A snp 40.77 0/1 69 5 3 2 0.4 intronic rs2294989 COL9A3 AU,AD NM_001853 exon10 c.5526-187G>A 0.275958 0.2103 Uncertain 20_61456440_G->A 20 61456440 61456440 G A snp 174.9 1/1 15 7 0 7 1.0 intronic rs187176638 COL9A3 AU,AD NM_001853 exon12 c.7957+67G>A 0.197883 0.4623 Uncertain 20_61456464_G->A 20 61456464 61456464 G A snp 139.03 1/1 12 6 0 6 1.0 intronic rs182918131 COL9A3 AU,AD NM_001853 exon12 c.7957+91G>A 0.133586 0.3323 Uncertain 20_61458547_A->T 20 61458547 61458547 A T snp 450.77 0/1 99 37 19 18 0.49 intronic rs2249766 COL9A3 AU,AD NM_001853 exon16 c.10176-45A>T 0.630192 0.744 0.557308 0.5197 0.7531 Uncertain 20_61459532_G->A 20 61459532 61459532 G A snp 433.77 0/1 77 18 3 15 0.83 intronic rs559576979 COL9A3 AU,AD NM_001853 exon17 c.10912+204G>A 0.00119808 0.006 Uncertain 20_61460338_C->T 20 61460338 61460338 C T snp 172.77 0/1 99 18 10 8 0.44 intronic rs6062700 COL9A3 AU,AD NM_001853 exon19 c.11912+10C>T 0.629393 0.744 0.555243 0.5762 0.7795 Uncertain 20_61461545_G->T 20 61461545 61461545 G T snp 309.77 0/1 99 17 6 11 0.65 intronic rs2294992 COL9A3 AU,AD NM_001853 exon23 c.13295-166G>T 0.186502 0.4931 Uncertain 20_61467701_G->A 20 61467701 61467701 G A snp 3265.77 0/1 99 250 133 117 0.47 intronic rs3765462 COL9A3 AU,AD NM_001853 exon28 c.19269+16G>A 0.0513179 0.1379 0.031452 0.0295 0.1407 Uncertain 20_61467800_A->G 20 61467800 61467800 A G snp 3350.77 0/1 99 250 127 123 0.49 intronic rs760087 COL9A3 AU,AD NM_001853 exon29 c.19413-29A>G 0.223043 0.4683 0.140474 0.1888 0.4554 Uncertain 20_61467898_G->C 20 61467898 61467898 G C snp 4240.77 1/1 99 129 0 129 1.0 intronic rs910152 COL9A3 AU,AD NM_001853 exon29 c.19468+14G>C 0.933307 0.9514 0.912458 0.9198 0.9412 Uncertain 20_61468571_T->C 20 61468571 61468571 T C snp 893.77 0/1 99 117 75 42 0.36 exonic rs2294995 COL9A3 AU,AD synonymous SNV NM_001853 exon30 c.T1740C p.P580P 0.709864 0.5883 0.764398 0.6869 0.5969 Uncertain 20_61512606_T->C 20 61512606 61512606 T C snp 3261.77 1/1 99 105 0 105 1.0 exonic rs910148 DIDO1 AU nonsynonymous SNV NM_001193369 exon16 c.A4702G p.T1568A 0.995008 1 0.989692 0.9924 1 0.4 T 0.000 P -1.051 T 0.0 T 0.0 T Pathogenic 20_61575956_A->G 20 61575956 61575956 A G snp 120.03 1/1 12 4 0 4 1.0 intronic rs2427451 GID8 AU NM_017896 exon5 c.3236-134A>G 0.338059 0.3571 Uncertain 20_61577275_T->C 20 61577275 61577275 T C snp 5736.77 1/1 99 205 0 205 1.0 UTR3 rs2427452 GID8 AU 0.70627 0.6925 0.7221 0.6689 Uncertain 20_61577515_C->T 20 61577515 61577515 C T snp 675.77 1/1 51 21 0 21 1.0 UTR3 rs2427453 GID8 AU 0.330272 0.3581 Uncertain 20_61588159_A->G 20 61588159 61588159 A G snp 2576.77 1/1 99 87 0 87 1.0 exonic rs2245341 SLC17A9 AD synonymous SNV NM_022082 exon2 c.A102G p.T34T 0.769968 0.746 0.728787 0.7238 0.7690 Uncertain 20_61588745_C->T 20 61588745 61588745 C T snp 3060.77 1/1 99 118 0 118 1.0 intronic rs2427457 SLC17A9 AD NM_022082 exon3 c.4610-47C>T 0.516973 0.7401 0.395031 0.5210 0.7604 Uncertain 20_61594433_G->A 20 61594433 61594433 G A snp 2283.77 1/1 99 57 0 57 1.0 intronic rs3810460 SLC17A9 AD NM_022082 exon6 c.10442-191G>A 0.553115 0.7421 Uncertain 20_61594679_A->G 20 61594679 61594679 A G snp 7936.77 1/1 99 248 0 248 1.0 exonic rs2427463 SLC17A9 AD nonsynonymous SNV NM_022082 exon6 c.A683G p.N228S 0.971446 1 0.973085 0.9917 1 0.52 T 0.000 P -1.021 T 0.0 T 0.004 T Pathogenic 20_61595537_A->G 20 61595537 61595537 A G snp 4036.77 1/1 99 145 1 144 0.99 intronic rs2427464 SLC17A9 AD NM_022082 exon8 c.11397-42A>G 0.988818 1 0.990762 0.9974 1 Uncertain 20_61596316_C->A 20 61596316 61596316 C A snp 50.74 1/1 6 2 0 2 1.0 intronic rs2427465 SLC17A9 AD NM_022082 exon9 c.12301-167C>A 0.968251 1 Uncertain 20_61597774_C->T 20 61597774 61597774 C T snp 511.77 0/1 99 50 31 19 0.38 intronic rs181583751 SLC17A9 AD NM_022082 exon11 c.13694-102C>T 0.000998403 0.005 Uncertain 20_61597947_T->- 20 61597947 61597947 T - indel 8332.73 1/1 99 201 0 201 1.0 intronic rs397812887 SLC17A9 AD NM_022082 exon11 c.13750+15delT 0.802915 0.9911 0.787201 0.8825 0.9853 Uncertain 20_61598574_C->T 20 61598574 61598574 C T snp 302.78 1/1 24 8 0 8 1.0 intronic rs3746751 SLC17A9 AD NM_022082 exon13 c.14506-114C>T 0.745208 0.75 Uncertain 20_61598899_A->G 20 61598899 61598899 A G snp 1399.77 1/1 99 43 0 43 1.0 UTR3 rs3746750 SLC17A9 AD 0.588458 0.7411 0.539792 0.6184 0.7569 Uncertain 20_61637294_C->G 20 61637294 61637294 C G snp 304.78 1/1 24 8 0 8 1.0 downstream rs4809451 BHLHE23 AU 0.949681 0.9901 Uncertain 20_61847068_C->G 20 61847068 61847068 C G snp 573.77 1/1 42 20 0 20 1.0 intronic rs6090310 YTHDF1 AU NM_017798 exon4 c.18894+115C>G 0.673722 0.8611 Uncertain 20_61869223_T->C 20 61869223 61869223 T C snp 2811.77 1/1 99 110 0 110 1.0 intronic rs6062855 BIRC7 AU NM_022161 exon2 c.1806-31T>C 0.445687 0.4921 0.433071 0.4921 0.5554 Uncertain 20_61869607_C->A 20 61869607 61869607 C A snp 2842.77 1/1 99 91 1 90 0.99 intronic rs6010878 BIRC7 AU NM_022161 exon3 c.2299-140C>A 0.664137 0.8542 0.6984 0.8687 0.12 T 0.0 P -1.054 T Uncertain 20_61869826_C->T 20 61869826 61869826 C T snp 6199.77 1/1 99 217 0 217 1.0 exonic rs2273487 BIRC7 AU synonymous SNV NM_022161 exon3 c.C528T p.S176S 0.444888 0.4931 0.434328 0.4741 0.5347 Uncertain 20_61870075_C->T 20 61870075 61870075 C T snp 3052.77 1/1 99 102 1 101 0.99 intronic rs744590 BIRC7 AU NM_022161 exon4 c.2518+109C>T 0.444688 0.4921 Uncertain 20_61870167_C->A 20 61870167 61870167 C A snp 4973.77 1/1 99 185 0 185 1.0 ncRNA_exonic rs744591 MIR3196 AU 0.449481 0.4921 0.5558 0.6381 Uncertain 20_61870220_T->C 20 61870220 61870220 T C snp 6163.77 1/1 99 234 0 234 1.0 intronic rs744592 BIRC7 AU NM_022161 exon4 c.2518+254T>C 0.445088 0.4921 0.5376 0.5417 Uncertain 20_61870465_A->G 20 61870465 61870465 A G snp 1609.77 1/1 99 61 0 61 1.0 intronic rs1075557 BIRC7 AU NM_022161 exon5 c.3065-48A>G 0.4375 0.494 0.431241 0.4674 0.5399 Uncertain 20_61870605_-->G 20 61870605 61870605 - G indel 2398.73 1/1 99 72 0 72 1.0 intronic rs3215649 BIRC7 AU NM_022161 exon5 c.3137+20insG 0.664337 0.8552 0.608657 0.6573 0.8447 Uncertain 20_61870634_A->G 20 61870634 61870634 A G snp 1882.77 1/1 99 58 0 58 1.0 intronic rs1075556 BIRC7 AU NM_022161 exon5 c.3137+49A>G 0.44369 0.4931 0.424888 0.4745 0.5348 Uncertain 20_61872905_A->G 20 61872905 61872905 A G snp 5901.77 1/1 99 226 0 226 1.0 intronic rs1047826 NKAIN4 AU NM_152864 exon1 c.10+47A>G 0.676118 0.8552 0.648200 0.6694 0.8762 Uncertain 20_61873039_T->C 20 61873039 61873039 T C snp 4992.77 1/1 99 182 0 182 1.0 intronic rs1047822 NKAIN4 AU NM_152864 exon1 c.10+181T>C 0.590455 0.8393 0.5570 0.8581 Uncertain 20_61873080_T->A 20 61873080 61873080 T A snp 2920.77 1/1 99 99 1 98 0.99 intronic rs1047819 NKAIN4 AU NM_152864 exon1 c.10+222T>A 0.307109 0.4762 0.3443 0.4931 Uncertain 20_61875497_A->C 20 61875497 61875497 A C snp 2231.77 1/1 99 72 0 72 1.0 intronic rs2236186 NKAIN4 AU NM_152864 exon3 c.2588+61A>C 0.641174 0.8571 0.584538 Uncertain 20_61878632_G->A 20 61878632 61878632 G A snp 1017.77 1/1 75 32 0 32 1.0 intronic rs2236193 NKAIN4 AU NM_152864 exon4 c.6081-297G>A 0.313698 0.503 0.3340 0.5278 Uncertain 20_61878649_T->G 20 61878649 61878649 T G snp 1581.77 1/1 99 51 0 51 1.0 intronic rs4809512 NKAIN4 AU NM_152864 exon4 c.6081-280T>G 0.380791 0.505 0.4403 0.5741 Uncertain 20_61878950_A->C 20 61878950 61878950 A C snp 2043.77 1/1 99 69 0 69 1.0 exonic rs872808 NKAIN4 AU nonsynonymous SNV NM_152864 exon4 c.T451G p.C151G 0.43131 0.5099 0.354272 0.4003 0.5166 0.61 T 0.0 P -0.961 T 0.0 T 0.0 T Pathogenic 20_61880169_T->G 20 61880169 61880169 T G snp 6595.77 1/1 99 244 0 244 1.0 exonic rs1129659 NKAIN4 AU nonsynonymous SNV NM_152864 exon3 c.A271C p.K91Q 0.421126 0.5069 0.390478 0.4122 0.5414 0.31 T 0.000 P -0.939 T 0.009 T 0.033 T Pathogenic 20_61880274_A->G 20 61880274 61880274 A G snp 3571.77 1/1 99 128 0 128 1.0 intronic rs2273497 NKAIN4 AU NM_152864 exon5 c.7399+27A>G 0.72524 0.8591 0.670589 0.6869 0.8527 Uncertain 20_61881296_A->G 20 61881296 61881296 A G snp 3861.77 1/1 99 138 0 138 1.0 exonic rs927081 NKAIN4 AU synonymous SNV NM_152864 exon2 c.T183C p.Y61Y 0.66254 0.8542 0.586114 0.6094 0.8452 Uncertain 20_61885887_G->C 20 61885887 61885887 G C snp 99.28 1/1 9 3 0 3 1.0 ncRNA_exonic rs35796278 FLJ16779 AU 1 1 Uncertain 20_61908054_G->A 20 61908054 61908054 G A snp 43.77 0/1 69 5 3 2 0.4 intronic rs147651218 ARFGAP1 AU NM_175609 exon4 c.1071+51G>A 0.00279553 0.0139 0.000154 0.0035 0.0139 Uncertain 20_61912715_T->C 20 61912715 61912715 T C snp 930.77 0/1 99 69 29 40 0.58 intronic rs2236195 ARFGAP1 AU NM_175609 exon8 c.5767+16T>C 0.397764 0.372 0.419148 0.5051 0.3751 Uncertain 20_61915375_G->T 20 61915375 61915375 G T snp 172.77 0/1 99 12 6 6 0.5 intronic rs11086161 ARFGAP1 AU NM_175609 exon10 c.8300+143G>T 0.297524 0.497 Uncertain 20_61916379_C->T 20 61916379 61916379 C T snp 2098.77 0/1 99 148 68 80 0.54 intronic rs13042357 ARFGAP1 AU NM_175609 exon11 c.9342+105C>T 0.389776 0.621 Uncertain 20_61917241_A->G 20 61917241 61917241 A G snp 2456.77 1/1 99 71 0 71 1.0 intronic rs6090342 ARFGAP1 AU NM_001281482 exon12 c.10399-90A>G 0.970248 1 Uncertain 20_61918164_C->G 20 61918164 61918164 C G snp 2096.77 1/1 99 81 0 81 1.0 ncRNA_exonic rs6062431 MIR4326 AU 0.690296 0.9306 0.6357 0.8824 Uncertain 20_61941747_A->G 20 61941747 61941747 A G snp 2002.77 1/1 99 78 0 78 1.0 exonic rs4809287 COL20A1 AU synonymous SNV NM_020882 exon11 c.A1278G p.G426G 0.953474 1 0.957894 0.9878 1 Uncertain 20_61943917_C->- 20 61943917 61943917 C - indel 1189.73 1/1 81 28 0 28 1.0 intronic rs3833299 COL20A1 AU NM_020882 exon15 c.17442+16delC 0.304513 0.4385 0.240963 0.2662 0.3811 Uncertain 20_61946692_C->T 20 61946692 61946692 C T snp 2360.77 1/1 99 89 0 89 1.0 intronic rs6090357 COL20A1 AU NM_020882 exon20 c.20296-63C>T 0.953674 1 0.961184 Uncertain 20_61950792_C->T 20 61950792 61950792 C T snp 1810.77 1/1 99 65 0 65 1.0 intronic rs3746381 COL20A1 AU NM_020882 exon23 c.24379-46C>T 0.249401 0.4097 0.159061 0.2138 0.4134 Uncertain 20_61951327_T->- 20 61951327 61951327 T - indel 2526.73 1/1 99 62 0 62 1.0 intronic rs11478836 COL20A1 AU NM_020882 exon24 c.24931-63delT 0.933706 1 Uncertain 20_61951489_G->C 20 61951489 61951489 G C snp 1923.77 1/1 99 72 0 72 1.0 exonic rs6089881 COL20A1 AU synonymous SNV NM_020882 exon24 c.G3015C p.A1005A 0.883786 0.996 0.909067 0.9724 0.9955 Uncertain 20_61951789_C->T 20 61951789 61951789 C T snp 661.77 1/1 51 26 0 26 1.0 intronic rs6062891 COL20A1 AU NM_020882 exon25 c.25261+69C>T 0.836462 0.9871 Uncertain 20_61952137_A->G 20 61952137 61952137 A G snp 123.03 1/1 12 4 0 4 1.0 intronic rs3746382 COL20A1 AU NM_020882 exon26 c.25905-227A>G 0.262979 0.4266 Uncertain 20_61952490_A->G 20 61952490 61952490 A G snp 1780.77 1/1 99 61 0 61 1.0 intronic rs4809533 COL20A1 AU NM_020882 exon26 c.25992+39A>G 0.933307 1 0.947408 0.9819 1 Uncertain 20_61953365_T->C 20 61953365 61953365 T C snp 1135.77 1/1 81 45 0 45 1.0 intronic rs1884821 COL20A1 AU NM_020882 exon27 c.26950-44T>C 0.934305 1 0.948938 0.9746 1 Uncertain 20_61959642_G->A 20 61959642 61959642 G A snp 6637.77 1/1 99 249 1 248 1.0 intronic rs2273494 COL20A1 AU NM_020882 exon34 c.33223-40G>A 0.262979 0.4187 0.186408 0.2600 0.4232 Uncertain 20_61960687_T->C 20 61960687 61960687 T C snp 172.9 1/1 15 5 0 5 1.0 intronic rs2180615 COL20A1 AU NM_020882 exon35 c.34477-249T>C 0.933906 1 Uncertain 20_61980991_T->C 20 61980991 61980991 T C snp 3578.77 1/1 99 129 0 129 1.0 intronic rs3827020 CHRNA4 AU,AD NM_000744 exon2 c.2915-13T>C 0.244609 0.4841 0.173435 0.2114 0.4657 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000079315.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 20_61981536_A->G 20 61981536 61981536 A G snp 2994.77 1/1 99 105 0 105 1.0 exonic rs2229960 CHRNA4 AU,AD synonymous SNV NM_000744 exon5 c.T1227C p.C409C 0.870807 1 0.857143 0.9357 0.9997 Uncertain 20_61981554_C->A 20 61981554 61981554 C A snp 2974.77 1/1 99 117 1 116 0.99 exonic rs2229959 CHRNA4 AU,AD synonymous SNV NM_000744 exon5 c.G1209T p.P403P 0.733826 0.8988 0.751390 0.8354 0.8655 Uncertain 20_61982085_A->G 20 61982085 61982085 A G snp 7689.77 1/1 99 247 0 247 1.0 exonic rs1044394 CHRNA4 AU,AD synonymous SNV NM_000744 exon5 c.T678C p.C226C 0.863618 1 0.843303 0.9196 0.9997 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000116723.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 20_61982124_A->G 20 61982124 61982124 A G snp 8428.77 1/1 99 250 0 250 1.0 exonic rs1044393 CHRNA4 AU,AD synonymous SNV NM_000744 exon5 c.T639C p.D213D 0.757188 0.8998 0.766954 0.8353 0.8654 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000116722.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 20_61982496_T->C 20 61982496 61982496 T C snp 412.77 1/1 33 11 0 11 1.0 intronic rs13041103 CHRNA4 AU,AD NM_000744 exon2 c.4290+117T>C 0.623602 0.7083 Uncertain 20_61990874_T->C 20 61990874 61990874 T C snp 3912.77 1/1 99 144 0 144 1.0 intronic rs6090384 CHRNA4 AU,AD NM_000744 exon5 c.12810-25T>C 0.871805 0.999 0.854938 0.9331 0.9997 Uncertain 20_62005458_G->C 20 62005458 62005458 G C snp 1311.77 0/1 99 115 58 57 0.5 intergenic rs35318934 LOC100130587 AU 0.475839 0.4226 Uncertain 20_62038277_T->G 20 62038277 62038277 T G snp 2127.77 0/1 99 171 82 89 0.52 exonic rs1801475 KCNQ2 AD nonsynonymous SNV NM_172107 exon17 c.A2339C p.N780T 0.590455 0.6687 0.598703 0.6372 0.6432 0.38 T 0.0 P -0.956 T 0.0 T 0.0 T CLINSIG=non-pathogenic|non-pathogenic|non-pathogenic;CLNDBN=Benign_familial_neonatal_seizures_1|not_specified|not_provided;CLNREVSTAT=no_assertion_criteria_provided|criteria_provided\x2c_multiple_submitters\x2c_no_conflicts|criteria_provided\x2c_single_submitter;CLNACC=RCV000020987.1|RCV000082686.4|RCV000126472.1;CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet|MedGen|MedGen;CLNDSDBID=NBK32534:C1852587:121200:ORPHA1949|CN169374|CN221809 Pathogenic 20_62038810_G->C 20 62038810 62038810 G C snp 321.77 0/1 99 28 15 13 0.46 intronic rs3746363 KCNQ2 AD NM_172108 exon1 c.732+82G>C 0.235224 0.4851 Uncertain 20_62038866_G->C 20 62038866 62038866 G C snp 74.77 0/1 99 6 3 3 0.5 intronic rs3746362 KCNQ2 AD NM_172108 exon1 c.732+138G>C 0.234425 0.4861 Uncertain 20_62040022_T->C 20 62040022 62040022 T C snp 1174.77 0/1 99 87 47 40 0.46 intronic rs2236197 KCNQ2 AD NM_172108 exon2 c.1893+133T>C 0.236022 0.4851 Uncertain 20_62045300_G->A 20 62045300 62045300 G A snp 48.74 1/1 6 2 0 2 1.0 intronic rs2281569 KCNQ2 AD NM_172108 exon4 c.7444-140G>A 0.200479 0.5813 Uncertain 20_62046496_-->GACAGACA 20 62046496 62046496 - GACAGACA indel 15365.7 1/1 99 185 1 184 0.99 intronic rs112006486 KCNQ2 AD NM_004518 exon5 c.8483+17insGACAGACA 0.9445 0.9927 Uncertain 20_62062883_G->A 20 62062883 62062883 G A snp 189.77 0/1 99 14 6 8 0.57 intronic rs73146513 KCNQ2 AD NM_172108 exon8 c.24726+161G>A 0.257588 0.5734 Uncertain 20_62070966_G->A 20 62070966 62070966 G A snp 1036.77 0/1 99 110 66 44 0.4 exonic rs2297385 KCNQ2 AD synonymous SNV NM_172107 exon6 c.C912T p.F304F 0.167931 0.4792 0.051745 0.1146 0.4395 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000117349.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 20_62074027_C->T 20 62074027 62074027 C T snp 47.77 0/1 76 24 19 5 0.21 intronic rs62208025 KCNQ2 AD NM_172108 exon12 c.35888+143C>T Uncertain 20_62074033_C->T 20 62074033 62074033 C T snp 183.77 0/1 99 14 8 6 0.43 intronic KCNQ2 AD NM_172108 exon12 c.35888+149C>T Uncertain 20_62074039_T->C 20 62074039 62074039 T C snp 65.77 0/1 94 11 8 3 0.27 intronic rs62208026 KCNQ2 AD NM_172108 exon12 c.35888+155T>C Uncertain 20_62074045_T->C 20 62074045 62074045 T C snp 151.77 0/1 99 10 4 6 0.6 intronic rs62208027 KCNQ2 AD NM_172108 exon12 c.35888+161T>C Uncertain 20_62074069_C->T 20 62074069 62074069 C T snp 43.77 0/1 60 4 2 2 0.5 intronic KCNQ2 AD NM_172108 exon12 c.35888+185C>T Uncertain 20_62076285_G->A 20 62076285 62076285 G A snp 391.77 0/1 99 30 13 17 0.57 intronic rs150299233 KCNQ2 AD NM_172108 exon13 c.38191+98G>A 0.00539137 0.0268 Uncertain 20_62119591_CG->- 20 62119591 62119592 CG - indel 208.77 1/1 21 7 0 7 1.0 UTR3 EEF1A2 AD Uncertain 20_62119615_A->G 20 62119615 62119615 A G snp 635.77 1/1 48 19 0 19 1.0 UTR3 rs2750402 EEF1A2 AD 1 . Uncertain 20_62119875_T->C 20 62119875 62119875 T C snp 341.78 1/1 27 10 0 10 1.0 intronic rs7265428 EEF1A2 AD NM_001958 exon1 c.128+97T>C 0.313498 0.4524 Uncertain 20_62121702_A->G 20 62121702 62121702 A G snp 2032.77 1/1 99 72 0 72 1.0 intronic rs310607 EEF1A2 AD NM_001958 exon3 c.2181-129A>G 0.999401 1 Uncertain 20_62121726_T->C 20 62121726 62121726 T C snp 3179.76 1/1 99 107 1 106 0.99 intronic rs310608 EEF1A2 AD NM_001958 exon3 c.2181-105T>C 0.883387 0.7272 Uncertain 20_62126185_A->G 20 62126185 62126185 A G snp 5630.77 1/1 99 179 0 179 1.0 exonic rs310617 EEF1A2 AD synonymous SNV NM_001958 exon4 c.T594C p.G198G 0.591653 0.6181 0.573937 0.5710 0.6167 Uncertain 20_62126299_C->T 20 62126299 62126299 C T snp 8603.77 1/1 99 250 0 250 1.0 exonic rs2274860 EEF1A2 AD synonymous SNV NM_001958 exon4 c.G480A p.P160P 0.140176 0.4286 0.099139 0.1354 0.4187 Uncertain 20_62152508_G->A 20 62152508 62152508 G A snp 319.77 0/1 99 24 13 11 0.46 intronic rs73622818 PPDPF AU 0.0373403 0.1478 Uncertain 20_62152519_C->G 20 62152519 62152519 C G snp 525.77 0/1 99 35 13 22 0.63 intronic rs72629024 PPDPF AU 0.286542 0.7133 Uncertain 20_62153311_G->C 20 62153311 62153311 G C snp 325.77 0/1 42 13 2 11 0.85 UTR3 rs1139147 PPDPF AU 0.350839 0.2669 0.2892 0.4 Uncertain 20_62153518_G->- 20 62153518 62153518 G - indel 248.73 0/1 64 9 2 7 0.78 UTR3 rs139707650 PPDPF AU 0.19369 0.1052 Uncertain 20_62162340_T->C 20 62162340 62162340 T C snp 2015.77 1/1 99 62 0 62 1.0 intronic rs191090 PTK6 AU NM_005975 exon3 c.1392+60T>C 0.726637 0.9931 Uncertain 20_62172219_G->A 20 62172219 62172219 G A snp 5128.77 1/1 99 192 0 192 1.0 exonic rs6122130 SRMS AU synonymous SNV NM_080823 exon8 c.C1419T p.F473F 0.369808 0.9613 0.164642 0.3182 0.9578 Uncertain 20_62173562_G->T 20 62173562 62173562 G T snp 5257.77 1/1 99 190 0 190 1.0 exonic rs56130722 SRMS AU synonymous SNV NM_080823 exon5 c.C900A p.I300I 0.370008 0.9603 0.164385 0.3176 0.9512 Uncertain 20_62174724_G->A 20 62174724 62174724 G A snp 2405.77 1/1 99 92 0 92 1.0 exonic rs4809309 SRMS AU synonymous SNV NM_080823 exon3 c.C588T p.Y196Y 0.36901 0.9603 0.162000 0.3162 0.9556 Uncertain 20_62187187_T->C 20 62187187 62187187 T C snp 6949.77 1/1 99 241 0 241 1.0 exonic rs3746348 C20orf195 AU synonymous SNV NM_024059 exon2 c.T171C p.S57S 0.663139 0.9067 0.460710 0.5441 0.9053 Uncertain 20_62187439_T->C 20 62187439 62187439 T C snp 7165.77 1/1 99 248 0 248 1.0 exonic rs734750 C20orf195 AU synonymous SNV NM_024059 exon2 c.T423C p.D141D 0.683706 0.9067 0.493541 0.5716 0.9073 Uncertain 20_62190784_G->A 20 62190784 62190784 G A snp 44.77 0/1 33 3 1 2 0.67 intronic HELZ2 AU NM_001037335 exon1 c.125+61G>A Uncertain 20_62190791_G->C 20 62190791 62190791 G C snp 46.77 0/1 33 3 1 2 0.67 intronic rs563722521 HELZ2 AU NM_001037335 exon1 c.125+68G>C 0.090655 0.0873 Uncertain 20_62191321_A->G 20 62191321 62191321 A G snp 3228.29 1/1 99 122 0 122 1.0 exonic rs3810477 HELZ2 AU synonymous SNV NM_033405 exon13 c.T6078C p.N2026N 0.609625 0.8502 0.524070 0.5925 0.8721 Uncertain 20_62191475_T->G 20 62191475 62191475 T G snp 1785.77 1/1 99 62 0 62 1.0 intronic rs3810478 HELZ2 AU NM_001037335 exon2 c.850+27T>G 0.433706 0.8194 0.308111 0.4324 0.8395 Uncertain 20_62191558_G->A 20 62191558 62191558 G A snp 706.77 0/1 99 56 23 33 0.59 exonic rs3810479 HELZ2 AU synonymous SNV NM_033405 exon12 c.C5916T p.A1972A 0.156949 0.3433 0.114159 0.2391 0.4332 Uncertain 20_62193019_C->T 20 62193019 62193019 C T snp 3391.77 1/1 99 123 0 123 1.0 exonic rs11551684 HELZ2 AU synonymous SNV NM_033405 exon7 c.G5064A p.P1688P 0.21885 0.5734 0.118407 0.1973 0.5955 Uncertain 20_62193414_A->G 20 62193414 62193414 A G snp 4681.77 1/1 99 170 0 170 1.0 intronic rs310629 HELZ2 AU NM_001037335 exon10 c.2826-10A>G 0.919928 0.999 0.869817 0.8798 0.9971 Uncertain 20_62193445_G->A 20 62193445 62193445 G A snp 4395.77 1/1 99 164 0 164 1.0 exonic rs3810481 HELZ2 AU nonsynonymous SNV NM_033405 exon5 c.C4802T p.T1601M 0.207268 0.5734 0.109179 0.1855 0.5834 0.01 T 1.000 P -0.968 T 1.0 D 0.998 D Pathogenic 20_62194030_G->C 20 62194030 62194030 G C snp 3576.77 1/1 99 116 0 116 1.0 exonic rs3810483 HELZ2 AU nonsynonymous SNV NM_033405 exon3 c.C4438G p.Q1480E 0.536741 0.8482 0.396795 0.5245 0.8613 1 T 0.0 P -0.903 T 0.0 T 0.0 T Pathogenic 20_62194103_A->G 20 62194103 62194103 A G snp 3644.77 1/1 99 126 0 126 1.0 exonic rs3810484 HELZ2 AU synonymous SNV NM_033405 exon3 c.T4365C p.P1455P 0.547125 0.8482 0.398181 0.5158 0.8696 Uncertain 20_62194713_A->C 20 62194713 62194713 A C snp 1845.77 1/1 99 65 0 65 1.0 exonic rs3810486 HELZ2 AU nonsynonymous SNV NM_033405 exon3 c.T3755G p.L1252R 0.244808 0.5923 0.096909 0.2698 0.6190 0.47 T 0.0 P -0.976 T 0.0 T 0.0 T Pathogenic 20_62195220_C->T 20 62195220 62195220 C T snp 4960.77 1/1 99 163 0 163 1.0 exonic rs3827022 HELZ2 AU nonsynonymous SNV NM_033405 exon3 c.G3248A p.R1083Q 0.232228 0.5933 0.138111 0.2626 0.6361 0.86 T 0.0 P -1.007 T 0.014 T 0.0 T Pathogenic 20_62195672_C->T 20 62195672 62195672 C T snp 6510.77 1/1 99 228 1 227 1.0 exonic rs3827023 HELZ2 AU synonymous SNV NM_033405 exon3 c.G2796A p.L932L 0.231629 0.5913 0.137034 0.2828 0.6369 Uncertain 20_62196033_C->T 20 62196033 62196033 C T snp 3247.77 1/1 99 116 0 116 1.0 exonic rs3810487 HELZ2 AU nonsynonymous SNV NM_033405 exon3 c.G2435A p.R812K 0.219449 0.5317 0.138428 0.2995 0.5880 1 T 0.0 P -0.932 T 0.002 T 0.004 T Pathogenic 20_62196182_G->C 20 62196182 62196182 G C snp 5857.77 1/1 99 213 0 213 1.0 exonic rs3810488 HELZ2 AU synonymous SNV NM_033405 exon3 c.C2286G p.A762A 0.210064 0.5288 0.126174 0.1930 0.5453 Uncertain 20_62196807_T->C 20 62196807 62196807 T C snp 7026.77 1/1 99 245 0 245 1.0 exonic rs310632 HELZ2 AU nonsynonymous SNV NM_033405 exon3 c.A1661G p.H554R 0.983626 1 0.964791 0.9664 0.9994 1 T 0.0 P -0.962 T 0.0 T 0.0 T Pathogenic 20_62196884_A->G 20 62196884 62196884 A G snp 6363.77 1/1 99 214 0 214 1.0 exonic rs310633 HELZ2 AU synonymous SNV NM_033405 exon3 c.T1584C p.T528T 0.974441 0.999 0.949622 0.9481 0.9993 Uncertain 20_62198348_C->T 20 62198348 62198348 C T snp 7702.77 1/1 99 247 0 247 1.0 exonic rs438363 HELZ2 AU nonsynonymous SNV NM_033405 exon1 c.G656A p.S219N 0.935304 0.999 0.901477 0.9145 0.9994 0.64 T 0.0 P -0.972 T 0.006 T 0.004 T Pathogenic 20_62198662_A->G 20 62198662 62198662 A G snp 5716.77 1/1 99 190 0 190 1.0 exonic rs367440 HELZ2 AU synonymous SNV NM_033405 exon1 c.T342C p.Y114Y 0.935703 0.999 0.905369 0.9181 0.9980 Uncertain 20_62199126_C->G 20 62199126 62199126 C G snp 2138.77 1/1 99 69 0 69 1.0 intronic rs3810491 HELZ2 AU NM_033405 exon14 c.8509+19C>G 0.441494 0.5813 Uncertain 20_62200471_C->G 20 62200471 62200471 C G snp 1227.77 1/1 90 37 0 37 1.0 intronic rs6089923 HELZ2 AU NM_001037335 exon16 c.9902-29C>G 0.219848 0.5298 0.143132 0.2150 0.5487 Uncertain 20_62200575_T->C 20 62200575 62200575 T C snp 1587.77 1/1 99 57 0 57 1.0 exonic rs1741594 HELZ2 AU synonymous SNV NM_001037335 exon5 c.A1014G p.S338S 0.934904 0.999 0.899231 0.9104 0.9994 Uncertain 20_62200576_G->A 20 62200576 62200576 G A snp 1556.77 1/1 99 56 0 56 1.0 exonic rs6090457 HELZ2 AU nonsynonymous SNV NM_001037335 exon5 c.C1013T p.S338L 0.21885 0.5298 0.140692 0.2131 0.5527 0.02 T 0.0 P -0.910 T 0.294 T 0.084 T Pathogenic 20_62200860_A->G 20 62200860 62200860 A G snp 6775.77 1/1 99 247 0 247 1.0 exonic rs1757752 HELZ2 AU synonymous SNV NM_001037335 exon5 c.T729C p.A243A 0.749201 0.9673 0.730947 0.8046 0.9829 Uncertain 20_62202240_A->G 20 62202240 62202240 A G snp 660.77 1/1 48 22 0 22 1.0 intronic rs402211 HELZ2 AU NM_001037335 exon18 c.11623+19A>G 0.96885 0.999 0.944539 0.9442 0.9994 Uncertain 20_62202301_A->G 20 62202301 62202301 A G snp 345.78 1/1 27 10 0 10 1.0 intronic rs3746346 HELZ2 AU NM_001037335 exon18 c.11623+80A>G 0.413738 0.7401 Uncertain 20_62203748_G->A 20 62203748 62203748 G A snp 588.77 1/1 45 17 0 17 1.0 UTR5 rs34681475 HELZ2 AU 0.226038 0.5526 0.129666 0.3905 0.6732 Uncertain 20_62221364_G->A 20 62221364 62221364 G A snp 37.77 0/1 66 8 5 3 0.38 UTR3 rs2297427 GMEB2 AU 0.224241 0.5159 Uncertain 20_62221610_T->C 20 62221610 62221610 T C snp 5279.77 1/1 99 178 0 178 1.0 exonic rs311496 GMEB2 AU synonymous SNV NM_012384 exon10 c.A1425G p.L475L 0.832867 0.998 0.797524 0.8472 0.9993 Uncertain 20_62221766_C->T 20 62221766 62221766 C T snp 2429.77 0/1 99 195 97 98 0.5 exonic rs2297428 GMEB2 AU synonymous SNV NM_012384 exon10 c.G1269A p.P423P 0.22484 0.5159 0.152763 0.2915 0.5488 Uncertain 20_62223268_G->A 20 62223268 62223268 G A snp 62.77 0/1 91 11 8 3 0.27 intronic rs2236501 GMEB2 AU NM_012384 exon2 c.1933-106G>A 0.212061 0.2847 Uncertain 20_62223371_A->G 20 62223371 62223371 A G snp 5419.77 1/1 99 180 0 180 1.0 splicing rs311494 GMEB2 AU NM_012384 exon2 c.1933-3A>G 0.939696 0.999 0.905121 0.9177 0.9990 Pathogenic 20_62224595_G->A 20 62224595 62224595 G A snp 540.77 0/1 99 55 32 23 0.42 intronic rs2236503 GMEB2 AU NM_012384 exon4 c.2994+160G>A 0.223842 0.5149 Uncertain 20_62227081_A->G 20 62227081 62227081 A G snp 4953.77 1/1 99 183 0 183 1.0 exonic rs311489 GMEB2 AU synonymous SNV NM_012384 exon6 c.T501C p.H167H 0.831869 0.998 0.796632 0.8459 0.9984 Uncertain 20_62227180_C->G 20 62227180 62227180 C G snp 1335.77 0/1 99 96 44 52 0.54 intronic rs2282157 GMEB2 AU NM_012384 exon5 c.5679+60C>G 0.223842 0.5149 Uncertain 20_62227276_C->T 20 62227276 62227276 C T snp 71.77 0/1 99 9 6 3 0.33 intronic rs57156419 GMEB2 AU NM_012384 exon5 c.5679+156C>T 0.211861 0.2837 Uncertain 20_62229072_C->T 20 62229072 62229072 C T snp 1022.77 0/1 99 84 44 40 0.48 intronic rs2297429 GMEB2 AU NM_012384 exon6 c.7668-37C>T 0.212061 0.2837 0.096417 0.1142 0.2986 Uncertain 20_62229244_T->C 20 62229244 62229244 T C snp 2861.77 0/1 99 246 129 117 0.48 intronic rs2297430 GMEB2 AU NM_012384 exon6 c.7772+31T>C 0.226038 0.5198 0.157312 0.2228 0.5084 Uncertain 20_62229337_G->A 20 62229337 62229337 G A snp 1212.77 0/1 99 83 36 47 0.57 intronic rs414897 GMEB2 AU NM_012384 exon6 c.7772+124G>A 0.69988 0.7153 Uncertain 20_62234240_C->T 20 62234240 62234240 C T snp 149.77 0/1 99 12 7 5 0.42 intronic rs4809312 GMEB2 AU NM_012384 exon7 c.12876-77C>T 0.223642 0.5149 Uncertain 20_62234241_A->G 20 62234241 62234241 A G snp 508.77 1/1 39 14 0 14 1.0 intronic rs2145262 GMEB2 AU NM_012384 exon7 c.12876-76A>G 0.93151 0.999 Uncertain 20_62234273_A->G 20 62234273 62234273 A G snp 342.77 0/1 99 25 11 14 0.56 intronic rs766915 GMEB2 AU NM_012384 exon7 c.12876-44A>G 0.601837 0.6151 0.713132 0.7288 0.5995 Uncertain 20_62236148_T->C 20 62236148 62236148 T C snp 1539.77 0/1 99 147 80 67 0.46 exonic rs6090471 GMEB2 AU synonymous SNV NM_012384 exon3 c.A177G p.A59A 0.672724 0.6171 0.812779 0.7988 0.6018 Uncertain 20_62272658_T->C 20 62272658 62272658 T C snp 137.77 0/1 99 20 14 6 0.3 UTR3 rs2150910 STMN3 AU 0.849241 0.6796 0.918236 0.8566 0.6874 Uncertain 20_62275844_T->C 20 62275844 62275844 T C snp 208.77 0/1 99 26 16 10 0.38 intronic rs6010986 STMN3 AU NM_015894 exon4 c.2972+182T>C 0.726438 0.2758 Uncertain 20_62275875_T->C 20 62275875 62275875 T C snp 41.77 0/1 70 4 2 2 0.5 intronic rs4083754 STMN3 AU NM_015894 exon4 c.2972+213T>C 0.722644 0.2738 Uncertain 20_62291008_A->G 20 62291008 62291008 A G snp 313.77 0/1 99 33 19 14 0.42 ncRNA_intronic rs6089953 RTEL1-TNFRSF6B AU 0.732628 0.2867 Uncertain 20_62293460_T->C 20 62293460 62293460 T C snp 34.77 0/1 63 5 3 2 0.4 ncRNA_intronic rs2297433 RTEL1-TNFRSF6B AU 0.730232 0.2887 Uncertain 20_62294402_A->T 20 62294402 62294402 A T snp 289.77 0/1 99 21 11 10 0.48 ncRNA_intronic rs6010998 RTEL1-TNFRSF6B AU 0.730032 0.2887 Uncertain 20_62298673_C->G 20 62298673 62298673 C G snp 345.77 0/1 99 41 26 15 0.37 ncRNA_intronic rs7261546 RTEL1-TNFRSF6B AU 0.284345 0.1647 Uncertain 20_62305274_G->A 20 62305274 62305274 G A snp 1425.77 0/1 99 110 53 57 0.52 ncRNA_intronic rs2297437 RTEL1-TNFRSF6B AU 0.29373 0.1667 0.250654 0.2491 0.1479 Uncertain 20_62309554_C->T 20 62309554 62309554 C T snp 3204.83 0/1 99 247 114 133 0.54 ncRNA_intronic rs41309367 RTEL1-TNFRSF6B AU 0.611621 0.2877 0.694526 0.6648 0.2759 Uncertain 20_62312299_T->C 20 62312299 62312299 T C snp 121.77 0/1 99 8 3 5 0.63 ncRNA_intronic rs2297440 RTEL1-TNFRSF6B AU 0.717452 0.2887 Uncertain 20_62319464_T->C 20 62319464 62319464 T C snp 2236.77 0/1 99 189 96 93 0.49 ncRNA_intronic rs2738785 RTEL1-TNFRSF6B AU 0.716853 0.2907 0.828149 0.7460 0.2757 Uncertain 20_62319604_A->C 20 62319604 62319604 A C snp 1665.77 0/1 99 155 79 76 0.49 ncRNA_intronic rs2777941 RTEL1-TNFRSF6B AU 0.721645 0.2927 0.829638 0.7521 0.2799 Uncertain 20_62320242_G->A 20 62320242 62320242 G A snp 168.77 0/1 99 19 11 8 0.42 ncRNA_intronic rs6062492 RTEL1-TNFRSF6B AU 0.141374 0.1379 Uncertain 20_62320968_T->C 20 62320968 62320968 T C snp 2082.77 0/1 99 183 88 95 0.52 exonic rs6062302 RTEL1 AR,AD synonymous SNV NM_001283009 exon23 c.T1992C p.D664D 0.718251 0.2986 0.827759 0.7486 0.2860 Uncertain 20_62321655_G->A 20 62321655 62321655 G A snp 3352.77 0/1 99 250 110 140 0.56 exonic rs2236506 RTEL1 AR,AD synonymous SNV NM_001283009 exon26 c.G2274A p.A758A 0.696086 0.2897 0.808166 0.7411 0.2763 Uncertain 20_62322288_T->C 20 62322288 62322288 T C snp 165.77 0/1 99 38 28 10 0.26 exonic rs3208007 RTEL1 AR,AD synonymous SNV NM_001283009 exon27 c.T2544C p.P848P 0.718051 0.2907 0.835304 0.7653 0.3844 Uncertain 20_62323006_G->C 20 62323006 62323006 G C snp 1123.77 0/1 99 110 62 48 0.44 ncRNA_intronic rs2236507 RTEL1-TNFRSF6B AU 0.708466 0.2897 Uncertain 20_62324289_C->T 20 62324289 62324289 C T snp 1923.77 0/1 99 197 113 84 0.43 exonic rs3848672 RTEL1 AR,AD synonymous SNV NM_001283009 exon29 c.C2784T p.F928F 0.255791 0.5724 0.116587 0.2089 0.5624 Uncertain 20_62324816_C->T 20 62324816 62324816 C T snp 165.9 1/1 15 5 0 5 1.0 ncRNA_intronic rs113911531 RTEL1-TNFRSF6B AU Uncertain 20_62324821_T->A 20 62324821 62324821 T A snp 50.74 1/1 6 2 0 2 1.0 ncRNA_intronic rs12479741 RTEL1-TNFRSF6B AU Uncertain 20_62326110_A->C 20 62326110 62326110 A C snp 4305.77 1/1 99 138 0 138 1.0 exonic rs3208008 RTEL1 AR,AD nonsynonymous SNV NM_001283009 exon32 c.A3126C p.Q1042H 0.736821 0.3552 0.823237 0.7547 0.3558 0.19 T 0.0 P -0.922 T 0.0 T 0.0 T Pathogenic 20_62326579_G->T 20 62326579 62326579 G T snp 5386.77 1/1 99 199 1 198 0.99 splicing rs41309931 RTEL1 AR,AD NM_016434 exon33 c.35819+5G>T 0.124002 0.2232 0.088099 0.1403 0.2149 Pathogenic 20_62328375_A->G 20 62328375 62328375 A G snp 6535.77 1/1 99 247 1 246 1.0 exonic rs2738787 TNFRSF6B AU synonymous SNV NM_003823 exon1 c.A255G p.L85L 0.965455 0.995 0.942218 0.9384 0.9932 0.68 T 1.000 P -0.958 T Likely benign 20_62332436_A->G 20 62332436 62332436 A G snp 619.77 1/1 48 16 0 16 1.0 intronic rs2738788 ARFRP1 AU NM_001267546 exon2 c.260+382A>G 0.965056 0.8353 Uncertain 20_62332537_C->T 20 62332537 62332537 C T snp 3319.77 1/1 99 116 0 116 1.0 intronic rs6122147 ARFRP1 AU NM_001267546 exon2 c.260+483C>T 0.125998 0.2192 0.089658 0.2204 0.3093 Uncertain 20_62332638_-->C 20 62332638 62332638 - C indel 6429.73 1/1 99 162 0 162 1.0 intronic rs367993153 ARFRP1 AU NM_001267546 exon3 c.1387-543insC 0.736422 0.3522 0.840300 0.7733 0.4088 Uncertain 20_62337622_A->G 20 62337622 62337622 A G snp 766.77 1/1 57 22 0 22 1.0 intronic rs1291211 ARFRP1 AU NM_001267546 exon5 c.5914-86A>G 0.965056 0.995 Uncertain 20_62340115_C->G 20 62340115 62340115 C G snp 4475.77 1/1 99 164 0 164 1.0 exonic rs1291212 ZGPAT AU nonsynonymous SNV NM_001083113 exon2 c.C183G p.S61R 0.974241 0.995 0.943556 0.9462 0.9942 0.65 T 0.000 P -1.017 T 0.001 T 0.0 T Pathogenic 20_62364376_G->C 20 62364376 62364376 G C snp 139.03 1/1 12 5 0 5 1.0 intronic rs6011067 ZGPAT AU NM_001195654 exon3 c.24638-194G>C 0.914537 0.995 Uncertain 20_62364885_T->A 20 62364885 62364885 T A snp 7275.77 1/1 99 250 0 250 1.0 intronic rs6011068 ZGPAT AU NM_001195654 exon4 c.25006-53T>A 0.972843 0.995 Uncertain 20_62367377_A->G 20 62367377 62367377 A G snp 2145.77 1/1 99 74 1 73 0.99 UTR3 rs2427535 ZGPAT AU 0.947484 0.9931 Uncertain 20_62369161_C->G 20 62369161 62369161 C G snp 482.77 1/1 39 18 0 18 1.0 intronic rs2236511 LIME1 AU NM_017806 exon3 c.271-12C>G 0.129393 0.2341 0.073833 0.3784 0.4664 Uncertain 20_62369300_C->G 20 62369300 62369300 C G snp 3103.77 1/1 99 129 0 129 1.0 intronic rs914559 LIME1 AU NM_017806 exon4 c.423-25C>G 0.743211 0.37 0.837514 0.7786 0.4471 Uncertain 20_62369895_A->G 20 62369895 62369895 A G snp 3587.77 1/1 99 127 0 127 1.0 intronic rs1151624 LIME1 AU NM_017806 exon5 c.950+43A>G 0.744808 0.379 0.829955 0.7766 0.4359 Uncertain 20_62370349_T->C 20 62370349 62370349 T C snp 875.77 1/1 63 32 0 32 1.0 UTR3 rs1056441 LIME1 AU 0.716454 0.376 Uncertain 20_62372706_G->A 20 62372706 62372706 G A snp 1122.77 1/1 81 38 0 38 1.0 intronic rs4809221 SLC2A4RG AU NM_020062 exon3 c.1457-16G>A 0.651757 0.372 0.695739 0.6928 0.3855 Uncertain 20_62372813_G->A 20 62372813 62372813 G A snp 1990.77 1/1 99 77 0 77 1.0 exonic rs2427536 SLC2A4RG AU synonymous SNV NM_020062 exon3 c.G372A p.P124P 0.973642 0.995 0.943145 0.9456 0.9940 Uncertain 20_62373707_G->T 20 62373707 62373707 G T snp 2283.77 1/1 99 77 0 77 1.0 exonic rs8957 SLC2A4RG AU nonsynonymous SNV NM_020062 exon6 c.G699T p.E233D 0.71905 0.371 0.792782 0.7208 0.3746 1 T 0.002 P -0.910 T 0.02 T 0.008 T Pathogenic 20_62374219_A->C 20 62374219 62374219 A C snp 3925.77 1/1 99 139 0 139 1.0 intronic rs1151626 SLC2A4RG AU NM_020062 exon8 c.2966-12A>C 0.975439 0.995 0.943597 0.9471 0.9958 Uncertain 20_62374441_T->C 20 62374441 62374441 T C snp 824.77 1/1 63 23 1 22 0.96 UTR3 rs6742 SLC2A4RG AU 0.788538 0.9692 Uncertain 20_62378349_C->T 20 62378349 62378349 C T snp 2914.77 1/1 99 114 0 114 1.0 exonic rs5019252 ZBTB46 AU synonymous SNV NM_025224 exon5 c.G1704A p.E568E 0.269569 0.3472 0.276494 0.3426 0.3650 Uncertain 20_62378364_C->T 20 62378364 62378364 C T snp 3081.77 1/1 99 121 0 121 1.0 exonic rs12625387 ZBTB46 AU synonymous SNV NM_025224 exon5 c.G1689A p.A563A 0.269569 0.3452 0.281654 0.3470 0.3627 Uncertain 20_62517549_A->G 20 62517549 62517549 A G snp 246.77 0/1 99 25 16 9 0.36 intronic rs4809241 TPD52L2 AU NM_199361 exon5 c.20677+154A>G 0.500998 0.3889 Uncertain 20_62518689_C->G 20 62518689 62518689 C G snp 212.84 1/1 18 6 0 6 1.0 intronic rs3795155 TPD52L2 AU NM_199363 exon5 c.22198-227C>G 0.484625 0.6379 Uncertain 20_62518729_A->G 20 62518729 62518729 A G snp 968.77 1/1 72 26 0 26 1.0 intronic rs3795156 TPD52L2 AU NM_199363 exon5 c.22198-187A>G 0.589657 0.8323 Uncertain 20_62518766_C->T 20 62518766 62518766 C T snp 2256.77 1/1 99 68 0 68 1.0 intronic rs3795157 TPD52L2 AU NM_199363 exon5 c.22198-150C>T 0.574681 0.8313 Uncertain 20_62520671_T->C 20 62520671 62520671 T C snp 2271.77 1/1 99 80 0 80 1.0 intronic rs6062569 TPD52L2 AU NM_199363 exon6 c.23873+80T>C 0.586062 0.8304 Uncertain 20_62520674_G->T 20 62520674 62520674 G T snp 2208.77 1/1 99 78 0 78 1.0 intronic rs6010690 TPD52L2 AU NM_199363 exon6 c.23873+83G>T 0.599641 0.8304 Uncertain 20_62559964_G->A 20 62559964 62559964 G A snp 889.77 1/1 66 26 0 26 1.0 intronic rs817362 DNAJC5 AD NM_025219 exon2 c.107+159G>A 0.96885 1 Uncertain 20_62571418_G->- 20 62571418 62571418 G - indel 1775.73 0/1 99 176 77 99 0.56 intronic rs35264801 UCKL1 AU NM_017859 exon1 c.80+10delG 0.473043 0.5208 0.4553 0.4978 Uncertain 20_62573064_T->C 20 62573064 62573064 T C snp 276.77 0/1 99 14 4 10 0.71 intronic rs817370 UCKL1 AU NM_017859 exon7 c.1233+503T>C 0.627995 0.7381 Uncertain 20_62578077_-->T 20 62578077 62578077 - T indel 722.73 1/1 51 17 0 17 1.0 intronic rs111264888 UCKL1 AU NM_017859 exon14 c.6668+81insT 0.932109 0.998 Uncertain 20_62594247_G->A 20 62594247 62594247 G A snp 142.77 0/1 99 14 9 5 0.36 intronic rs2275294 ZNF512B AU NM_020713 exon5 c.2894+113G>A 0.327476 0.5228 ID=CR116690;DIS=Amyotrophic lateral sclerosis, susceptibility to;TAG=DFP;PUB=21665992 DFP Uncertain 20_62654449_C->T 20 62654449 62654449 C T snp 133.03 1/1 12 4 0 4 1.0 intronic rs816930 PRPF6 AD NM_012469 exon13 c.41633+218C>T 0.999401 1 Uncertain 20_62697751_T->C 20 62697751 62697751 T C snp 3200.06 1/1 99 121 0 121 1.0 intronic rs4809251 TCEA2 AU NM_003195 exon2 c.3163-77T>C 0.994609 1 Uncertain 20_62698188_G->A 20 62698188 62698188 G A snp 956.77 0/1 99 72 34 38 0.53 intronic rs34848242 TCEA2 AU NM_198723 exon4 c.430-79G>A 0.345847 0.2242 Uncertain 20_62698484_G->A 20 62698484 62698484 G A snp 692.77 0/1 99 52 26 26 0.5 intronic rs10460612 TCEA2 AU NM_198723 exon4 c.536+111G>A 0.374401 0.2242 Uncertain 20_62701092_A->C 20 62701092 62701092 A C snp 428.77 0/1 99 46 27 19 0.41 intronic rs4809393 TCEA2 AU NM_198723 exon7 c.3280-25A>C 0.375599 0.2272 0.370598 0.3626 0.2550 Uncertain 20_62703490_C->T 20 62703490 62703490 C T snp 2956.77 0/1 99 222 103 119 0.54 intronic rs13039439 TCEA2 AU NM_198723 exon11 c.5687-34C>T 0.19349 0.2242 0.204060 0.2380 0.2524 Uncertain 20_62705140_A->C 20 62705140 62705140 A C snp 205.77 0/1 99 18 11 7 0.39 UTR3 rs6011280 RGS19 AU 0.373403 0.2262 Uncertain 20_62714783_C->G 20 62714783 62714783 C G snp 1691.77 0/1 99 138 67 71 0.51 exonic rs6010717 LKAAEAR1 AU synonymous SNV NM_001007125 exon2 c.G678C p.A226A 0.624601 0.7093 0.628409 0.6124 0.6754 Uncertain 20_62724438_C->G 20 62724438 62724438 C G snp 285.77 0/1 99 17 8 9 0.53 intronic rs6010719 OPRL1 AU NM_000913 exon2 c.233+132C>G 0.195088 0.1081 Uncertain 20_62724459_G->A 20 62724459 62724459 G A snp 209.84 1/1 18 6 0 6 1.0 intronic rs6010720 OPRL1 AU NM_000913 exon2 c.233+153G>A 0.951677 1 Uncertain 20_62729577_C->T 20 62729577 62729577 C T snp 2362.77 0/1 99 173 81 92 0.53 intronic rs2295448 OPRL1 AU NM_000913 exon4 c.5555-51C>T 0.133986 0.0913 0.150070 Uncertain 20_62737043_G->A 20 62737043 62737043 G A snp 52.74 1/1 6 2 0 2 1.0 downstream rs559455016 NPBWR2 AU Uncertain 20_62737063_G->C 20 62737063 62737063 G C snp 88.28 1/1 9 3 0 3 1.0 downstream rs530082081 NPBWR2 AU Uncertain 20_62737067_G->A 20 62737067 62737067 G A snp 77.28 1/1 9 3 0 3 1.0 downstream rs543444554 NPBWR2 AU Uncertain 20_62737070_G->A 20 62737070 62737070 G A snp 88.28 1/1 9 3 0 3 1.0 downstream rs563430820 NPBWR2 AU Uncertain 20_62737118_A->G 20 62737118 62737118 A G snp 62.77 0/1 91 27 22 5 0.19 downstream NPBWR2 AU Uncertain 20_62737123_C->G 20 62737123 62737123 C G snp 110.77 0/1 99 31 23 8 0.26 downstream rs576037696 NPBWR2 AU 0.103834 0.0863 Uncertain 20_62737140_GTGA->- 20 62737140 62737143 GTGA - indel 1353.73 0/1 99 61 35 26 0.43 downstream NPBWR2 AU Uncertain 20_62737149_GGC->- 20 62737149 62737151 GGC - indel 1116.73 0/1 99 63 37 26 0.41 downstream NPBWR2 AU Uncertain 20_62737164_G->A 20 62737164 62737164 G A snp 1009.77 0/1 99 85 45 40 0.47 downstream rs35050335 NPBWR2 AU 0.0982428 0.0863 0.0005 0.0001 Uncertain 20_62737537_C->A 20 62737537 62737537 C A snp 2985.77 0/1 99 236 116 120 0.51 exonic rs4809400 NPBWR2 AU synonymous SNV NM_005286 exon1 c.G648T p.T216T 0.0848642 0.0823 0.090111 0.1037 0.0812 Uncertain 20_62737568_T->C 20 62737568 62737568 T C snp 3257.77 0/1 99 250 117 133 0.53 exonic rs4809401 NPBWR2 AU nonsynonymous SNV NM_005286 exon1 c.A617G p.Q206R 0.0886581 0.0863 0.093654 0.1075 0.0850 0.71 T 0.000 P -0.989 T 0.0 T 0.001 T Pathogenic 20_62744682_G->A 20 62744682 62744682 G A snp 1802.77 0/1 99 162 83 79 0.49 intergenic rs75030380 NPBWR2 AU 0.0816693 0.0784 Uncertain 20_62831155_C->T 20 62831155 62831155 C T snp 1620.77 0/1 99 158 85 73 0.46 intronic rs17568163 MYT1 AU NM_004535 exon4 c.1030-89C>T 0.0333466 0.0149 Uncertain 20_62836224_T->C 20 62836224 62836224 T C snp 35.77 0/1 64 4 2 2 0.5 intronic rs2254398 MYT1 AU NM_004535 exon5 c.6173-163T>C 0.511581 0.123 Uncertain 20_62843547_C->G 20 62843547 62843547 C G snp 150.77 0/1 99 29 22 7 0.24 intronic MYT1 AU NM_004535 exon9 c.13277+56C>G Uncertain 20_62853137_A->G 20 62853137 62853137 A G snp 103.77 0/1 51 6 2 4 0.67 intronic rs2180522 MYT1 AU NM_004535 exon14 c.23031-108A>G 0.0549121 0.0149 Uncertain 20_62959184_T->C 20 62959184 62959184 T C snp 176.77 0/1 99 76 62 14 0.18 intergenic rs2760707 LINC00266-1 AU Uncertain 20_62959363_G->C 20 62959363 62959363 G C snp 1081.77 1/1 78 37 0 37 1.0 intergenic rs2760709 LINC00266-1 AU Uncertain 21_9825735_T->C 21 9825735 9825735 T C snp 7859.77 1/1 99 250 0 250 1.0 upstream rs371225382 MIR3648-1 AU Uncertain 21_9825748_C->T 21 9825748 9825748 C T snp 569.77 0/1 99 250 206 44 0.18 upstream MIR3648-1 AU Uncertain 21_9825948_T->C 21 9825948 9825948 T C snp 2128.77 0/1 99 248 172 76 0.31 ncRNA_exonic rs1193565 MIR3648-1 AU Uncertain 21_9826301_T->C 21 9826301 9826301 T C snp 8138.77 1/1 99 250 4 246 0.98 downstream rs186602 MIR3648-1 AU 0.9543 0.9928 Uncertain 21_9826397_G->- 21 9826397 9826397 G - indel 1445.73 0/1 99 166 116 50 0.3 downstream rs373933783 MIR3648-1 AU 0.530351 0.4425 Uncertain 21_9907040_G->A 21 9907040 9907040 G A snp 280.77 0/1 99 21 9 12 0.57 downstream TEKT4P2 AU Uncertain 21_9907056_C->G 21 9907056 9907056 C G snp 492.77 0/1 99 46 16 30 0.65 downstream TEKT4P2 AU Uncertain 21_9907057_C->T 21 9907057 9907057 C T snp 587.77 0/1 99 46 25 21 0.46 downstream TEKT4P2 AU Uncertain 21_9907059_C->G 21 9907059 9907059 C G snp 296.77 0/1 99 56 44 12 0.21 downstream TEKT4P2 AU Uncertain 21_9907076_A->T 21 9907076 9907076 A T snp 903.77 0/1 99 111 78 33 0.3 downstream TEKT4P2 AU Uncertain 21_9907096_C->T 21 9907096 9907096 C T snp 731.77 0/1 99 198 160 38 0.19 downstream TEKT4P2 AU Uncertain 21_9907097_A->G 21 9907097 9907097 A G snp 5450.77 0/1 99 206 19 187 0.91 downstream rs767513066 TEKT4P2 AU Uncertain 21_9907114_C->T 21 9907114 9907114 C T snp 1392.77 0/1 99 250 187 63 0.25 downstream rs775412625 TEKT4P2 AU Uncertain 21_9907202_C->T 21 9907202 9907202 C T snp 3475.77 0/1 99 249 122 127 0.51 ncRNA_exonic rs759925432 TEKT4P2 AU 0.0086 0.0008 Uncertain 21_9907271_A->G 21 9907271 9907271 A G snp 4735.77 0/1 99 250 86 164 0.66 ncRNA_exonic rs707019 TEKT4P2 AU 0.5255 0.6279 Uncertain 21_9907276_T->G 21 9907276 9907276 T G snp 724.77 0/1 99 250 208 42 0.17 ncRNA_exonic TEKT4P2 AU -0.997 T Uncertain 21_9907279_G->T 21 9907279 9907279 G T snp 572.77 0/1 99 250 208 42 0.17 ncRNA_exonic TEKT4P2 AU -0.937 T Uncertain 21_9907324_G->C 21 9907324 9907324 G C snp 490.77 0/1 99 249 217 32 0.13 ncRNA_exonic TEKT4P2 AU -0.995 T Uncertain 21_9907340_A->G 21 9907340 9907340 A G snp 5186.77 0/1 99 250 69 181 0.72 ncRNA_exonic rs756694874 TEKT4P2 AU 0.0001 0.0002 Uncertain 21_9907343_G->A 21 9907343 9907343 G A snp 1838.77 0/1 99 250 160 90 0.36 ncRNA_exonic TEKT4P2 AU Uncertain 21_9907345_C->T 21 9907345 9907345 C T snp 983.77 0/1 99 250 203 47 0.19 ncRNA_exonic rs3694 TEKT4P2 AU 0.5448 0.6670 -0.991 T Uncertain 21_9907375_T->C 21 9907375 9907375 T C snp 4574.77 0/1 99 249 82 167 0.67 ncRNA_exonic rs711877 TEKT4P2 AU 0.5220 0.6244 -0.909 T Uncertain 21_9907384_G->A 21 9907384 9907384 G A snp 4688.77 0/1 99 250 85 165 0.66 ncRNA_exonic rs711876 TEKT4P2 AU 0.5160 0.6066 -0.916 T Uncertain 21_9907385_C->A 21 9907385 9907385 C A snp 2701.77 0/1 99 249 140 109 0.44 ncRNA_exonic TEKT4P2 AU Uncertain 21_9907397_C->T 21 9907397 9907397 C T snp 1231.77 0/1 99 250 200 50 0.2 ncRNA_exonic rs1052766 TEKT4P2 AU 0.5078 0.5826 Uncertain 21_9907398_G->C 21 9907398 9907398 G C snp 2613.77 0/1 99 250 138 112 0.45 ncRNA_exonic rs374344503 TEKT4P2 AU -0.937 T Uncertain 21_9907402_G->C 21 9907402 9907402 G C snp 2619.77 0/1 99 250 138 112 0.45 ncRNA_exonic rs377744985 TEKT4P2 AU -0.969 T Uncertain 21_9907416_C->T 21 9907416 9907416 C T snp 96.77 0/1 99 250 227 23 0.09 ncRNA_exonic rs3887623 TEKT4P2 AU 0.485823 0.5625 0.5170 0.6221 -0.998 T Uncertain 21_9907417_G->A 21 9907417 9907417 G A snp 76.77 0/1 99 250 207 43 0.17 ncRNA_exonic TEKT4P2 AU -1.008 T Uncertain 21_9907419_A->G 21 9907419 9907419 A G snp 338.77 0/1 99 250 225 25 0.1 ncRNA_exonic rs762447753 TEKT4P2 AU 0.0013 0.0017 -0.978 T Uncertain 21_9907422_G->A 21 9907422 9907422 G A snp 460.77 0/1 99 250 220 30 0.12 ncRNA_exonic rs370226675 TEKT4P2 AU 0.0048 0.0037 -0.937 T Uncertain 21_9907434_T->A 21 9907434 9907434 T A snp 2399.77 0/1 99 250 141 109 0.44 ncRNA_exonic rs754504817 TEKT4P2 AU 4.497e-05 0 -0.992 T Uncertain 21_9907438_A->T 21 9907438 9907438 A T snp 2467.77 0/1 99 250 140 110 0.44 ncRNA_exonic rs780638507 TEKT4P2 AU 4.617e-05 0 -0.996 T Uncertain 21_9907470_G->A 21 9907470 9907470 G A snp 1406.77 0/1 99 250 187 63 0.25 ncRNA_exonic TEKT4P2 AU -0.904 T Uncertain 21_9907479_G->T 21 9907479 9907479 G T snp 537.77 0/1 99 246 194 52 0.21 ncRNA_exonic TEKT4P2 AU -0.999 T Uncertain 21_9907503_C->A 21 9907503 9907503 C A snp 1091.77 0/1 99 236 186 50 0.21 ncRNA_exonic rs7657775 TEKT4P2 AU 0.5038 0.625 -0.999 T Uncertain 21_9907520_T->C 21 9907520 9907520 T C snp 1920.77 0/1 99 219 125 94 0.43 ncRNA_exonic TEKT4P2 AU Uncertain 21_9907527_G->C 21 9907527 9907527 G C snp 2110.77 0/1 99 213 112 101 0.47 ncRNA_exonic TEKT4P2 AU -1.010 T Uncertain 21_9907532_G->T 21 9907532 9907532 G T snp 108.77 0/1 99 208 192 16 0.08 ncRNA_exonic rs372691364 TEKT4P2 AU Uncertain 21_9907592_T->C 21 9907592 9907592 T C snp 1331.77 0/1 99 72 19 53 0.74 ncRNA_exonic rs407852 TEKT4P2 AU Uncertain 21_9908152_G->A 21 9908152 9908152 G A snp 448.77 0/1 99 29 14 15 0.52 ncRNA_exonic rs4079321 TEKT4P2 AU Uncertain 21_9908154_G->C 21 9908154 9908154 G C snp 81.77 0/1 99 31 26 5 0.16 ncRNA_exonic rs370786407 TEKT4P2 AU Uncertain 21_9908178_T->C 21 9908178 9908178 T C snp 555.77 0/1 99 99 71 28 0.28 ncRNA_exonic TEKT4P2 AU Uncertain 21_9908211_T->C 21 9908211 9908211 T C snp 747.77 0/1 99 238 191 47 0.2 ncRNA_exonic TEKT4P2 AU Uncertain 21_9908216_G->A 21 9908216 9908216 G A snp 643.77 0/1 99 250 207 43 0.17 ncRNA_exonic TEKT4P2 AU Uncertain 21_9908223_G->A 21 9908223 9908223 G A snp 2844.77 0/1 99 250 142 108 0.43 ncRNA_exonic rs374471127 TEKT4P2 AU 0.0557109 0.0942 Uncertain 21_9908239_T->C 21 9908239 9908239 T C snp 4929.77 0/1 99 249 85 164 0.66 ncRNA_exonic TEKT4P2 AU Uncertain 21_9908292_A->T 21 9908292 9908292 A T snp 4217.77 0/1 99 250 114 136 0.54 ncRNA_exonic rs559087189 TEKT4P2 AU 0.0553115 0.0923 0.0001 0 Uncertain 21_9908317_C->T 21 9908317 9908317 C T snp 124.77 0/1 99 250 228 22 0.09 ncRNA_exonic rs763327318 TEKT4P2 AU 8.842e-05 0 Uncertain 21_9908326_A->G 21 9908326 9908326 A G snp 2032.77 0/1 99 250 172 78 0.31 ncRNA_exonic rs368738535 TEKT4P2 AU 0.0007 0 Uncertain 21_9908330_A->G 21 9908330 9908330 A G snp 7041.77 0/1 99 247 29 218 0.88 ncRNA_exonic rs7692199 TEKT4P2 AU 0.660343 0.8105 0.0012 0 Uncertain 21_9908331_C->G 21 9908331 9908331 C G snp 4549.77 0/1 99 247 97 150 0.61 ncRNA_exonic TEKT4P2 AU Uncertain 21_9908461_T->A 21 9908461 9908461 T A snp 115.77 0/1 99 246 225 21 0.09 ncRNA_intronic rs777654110 TEKT4P2 AU 0.0004 0 Uncertain 21_9908491_A->G 21 9908491 9908491 A G snp 3583.77 0/1 99 228 94 134 0.59 ncRNA_intronic rs544720809 TEKT4P2 AU 0.000399361 Uncertain 21_9908555_C->T 21 9908555 9908555 C T snp 1781.77 0/1 99 107 49 58 0.54 ncRNA_intronic rs375103647 TEKT4P2 AU Uncertain 21_9908570_G->A 21 9908570 9908570 G A snp 1131.77 0/1 99 69 33 36 0.52 ncRNA_intronic rs382491 TEKT4P2 AU Uncertain 21_9908590_G->A 21 9908590 9908590 G A snp 577.77 0/1 99 32 15 17 0.53 ncRNA_intronic rs382508 TEKT4P2 AU Uncertain 21_9908934_C->T 21 9908934 9908934 C T snp 76.77 0/1 99 10 6 4 0.4 ncRNA_intronic TEKT4P2 AU Uncertain 21_9908964_G->A 21 9908964 9908964 G A snp 106.77 0/1 99 29 22 7 0.24 ncRNA_intronic TEKT4P2 AU Uncertain 21_9908981_G->T 21 9908981 9908981 G T snp 89.77 0/1 99 41 33 8 0.2 ncRNA_intronic TEKT4P2 AU Uncertain 21_9909012_C->A 21 9909012 9909012 C A snp 293.77 0/1 99 81 64 17 0.21 ncRNA_intronic TEKT4P2 AU Uncertain 21_9909014_C->T 21 9909014 9909014 C T snp 235.77 0/1 99 86 69 17 0.2 ncRNA_intronic TEKT4P2 AU Uncertain 21_9909015_C->G 21 9909015 9909015 C G snp 256.77 0/1 99 86 69 17 0.2 ncRNA_intronic TEKT4P2 AU Uncertain 21_9909022_G->A 21 9909022 9909022 G A snp 301.77 0/1 99 104 84 20 0.19 ncRNA_intronic TEKT4P2 AU Uncertain 21_9909034_C->G 21 9909034 9909034 C G snp 272.77 0/1 99 125 105 20 0.16 ncRNA_intronic TEKT4P2 AU Uncertain 21_9909043_C->G 21 9909043 9909043 C G snp 385.77 0/1 99 149 130 19 0.13 ncRNA_splicing TEKT4P2 AU Uncertain 21_9909078_G->A 21 9909078 9909078 G A snp 2245.77 0/1 99 233 127 106 0.45 ncRNA_exonic TEKT4P2 AU -0.775 T 0.999 D 0.814 D Uncertain 21_9909079_C->T 21 9909079 9909079 C T snp 637.77 0/1 99 232 192 40 0.17 ncRNA_exonic TEKT4P2 AU -0.996 T 0.983 D 0.405 D Uncertain 21_9909080_G->A 21 9909080 9909080 G A snp 202.77 0/1 99 237 212 25 0.11 ncRNA_exonic TEKT4P2 AU Uncertain 21_9909089_T->C 21 9909089 9909089 T C snp 673.77 0/1 99 250 209 41 0.16 ncRNA_exonic rs367717056 TEKT4P2 AU Uncertain 21_9909103_G->A 21 9909103 9909103 G A snp 880.77 0/1 99 249 197 52 0.21 ncRNA_exonic TEKT4P2 AU -0.800 T 1.0 D 0.91 D Uncertain 21_9909149_G->A 21 9909149 9909149 G A snp 171.77 0/1 99 248 223 25 0.1 ncRNA_exonic TEKT4P2 AU Uncertain 21_9909163_G->A 21 9909163 9909163 G A snp 818.77 0/1 99 250 200 50 0.2 ncRNA_exonic rs371591302 TEKT4P2 AU -0.593 T 1.0 D 0.997 D Uncertain 21_9909176_C->A 21 9909176 9909176 C A snp 2632.77 0/1 99 250 145 105 0.42 ncRNA_exonic TEKT4P2 AU Uncertain 21_9909204_C->T 21 9909204 9909204 C T snp 952.77 0/1 99 249 187 62 0.25 ncRNA_exonic TEKT4P2 AU -0.816 T 0.982 D 0.735 D Uncertain 21_9909217_C->A 21 9909217 9909217 C A snp 904.77 0/1 99 247 186 61 0.25 ncRNA_exonic TEKT4P2 AU -0.593 T 1.0 D 1.0 D Uncertain 21_9909219_T->C 21 9909219 9909219 T C snp 1328.77 0/1 99 247 171 76 0.31 ncRNA_exonic TEKT4P2 AU -1.010 T 0.0 T 0.001 T Uncertain 21_9909236_T->C 21 9909236 9909236 T C snp 395.77 0/1 99 242 204 38 0.16 ncRNA_exonic TEKT4P2 AU Uncertain 21_9909310_A->C 21 9909310 9909310 A C snp 894.77 0/1 99 110 69 41 0.37 ncRNA_intronic TEKT4P2 AU Uncertain 21_9909316_G->A 21 9909316 9909316 G A snp 750.77 0/1 99 103 66 37 0.36 ncRNA_intronic TEKT4P2 AU Uncertain 21_9909406_T->C 21 9909406 9909406 T C snp 62.77 0/1 91 11 7 4 0.36 ncRNA_intronic TEKT4P2 AU Uncertain 21_10793742_G->C 21 10793742 10793742 G C snp 95.77 0/1 99 12 8 4 0.33 intergenic TEKT4P2 AU Uncertain 21_10793765_TGGAGAAGAA->- 21 10793765 10793774 TGGAGAAGAA - indel 1903.73 0/1 63 19 1 18 0.95 intergenic rs139554263 TEKT4P2 AU Uncertain 21_10793781_T->G 21 10793781 10793781 T G snp 826.77 0/1 99 32 6 26 0.81 intergenic rs113770789 TEKT4P2 AU Uncertain 21_10793822_G->T 21 10793822 10793822 G T snp 277.77 0/1 99 105 84 21 0.2 intergenic rs111212584 TEKT4P2 AU Uncertain 21_10793825_T->A 21 10793825 10793825 T A snp 300.77 0/1 99 108 84 24 0.22 intergenic rs139250106 TEKT4P2 AU Uncertain 21_10793837_C->G 21 10793837 10793837 C G snp 220.77 0/1 99 136 113 23 0.17 intergenic rs62648058 TEKT4P2 AU Uncertain 21_10793839_T->G 21 10793839 10793839 T G snp 172.77 0/1 99 141 119 22 0.16 intergenic TEKT4P2 AU Uncertain 21_10793844_G->A 21 10793844 10793844 G A snp 284.77 0/1 99 147 122 25 0.17 intergenic rs201367415 TEKT4P2 AU Uncertain 21_10793861_A->G 21 10793861 10793861 A G snp 3511.77 0/1 99 179 32 147 0.82 intergenic rs28362110 TEKT4P2 AU Uncertain 21_10793885_A->T 21 10793885 10793885 A T snp 590.77 0/1 99 204 161 43 0.21 intergenic rs200167075 TEKT4P2 AU Uncertain 21_10793891_T->G 21 10793891 10793891 T G snp 4209.77 0/1 99 212 37 175 0.83 intergenic rs28490105 TEKT4P2 AU 0.616613 0.5675 Uncertain 21_10793906_G->C 21 10793906 10793906 G C snp 810.77 0/1 99 222 176 46 0.21 intergenic rs146787155 TEKT4P2 AU Uncertain 21_10793912_A->G 21 10793912 10793912 A G snp 860.77 0/1 99 222 175 47 0.21 intergenic rs111212586 TEKT4P2 AU Uncertain 21_10793925_T->A 21 10793925 10793925 T A snp 156.77 0/1 99 219 196 23 0.11 intergenic rs28641787 TEKT4P2 AU Uncertain 21_10793957_C->G 21 10793957 10793957 C G snp 113.77 0/1 99 177 157 20 0.11 intergenic rs80133346 TEKT4P2 AU Uncertain 21_10793969_A->G 21 10793969 10793969 A G snp 140.77 0/1 99 161 140 21 0.13 intergenic TEKT4P2 AU Uncertain 21_10793980_C->T 21 10793980 10793980 C T snp 145.77 0/1 99 117 104 13 0.11 intergenic rs146244384 TEKT4P2 AU Uncertain 21_10793981_A->G 21 10793981 10793981 A G snp 772.77 0/1 99 116 82 34 0.29 intergenic rs199550473 TEKT4P2 AU Uncertain 21_10794006_T->C 21 10794006 10794006 T C snp 295.77 0/1 99 86 67 19 0.22 intergenic rs373540490 TEKT4P2 AU Uncertain 21_10794018_A->G 21 10794018 10794018 A G snp 241.77 0/1 99 61 47 14 0.23 intergenic rs377480870 TEKT4P2 AU Uncertain 21_10794022_A->G 21 10794022 10794022 A G snp 1223.77 0/1 99 52 10 42 0.81 intergenic rs28971978 TEKT4P2 AU Uncertain 21_10794047_G->A 21 10794047 10794047 G A snp 245.77 0/1 99 18 10 8 0.44 intergenic rs28970391 TEKT4P2 AU 0.447684 0.4881 Uncertain 21_10794051_T->C 21 10794051 10794051 T C snp 133.77 0/1 99 16 11 5 0.31 intergenic rs200584440 TEKT4P2 AU Uncertain 21_10794052_G->A 21 10794052 10794052 G A snp 131.77 0/1 99 16 11 5 0.31 intergenic rs74672900 TEKT4P2 AU Uncertain 21_10794112_T->C 21 10794112 10794112 T C snp 50.74 1/1 6 2 0 2 1.0 intergenic rs28972268 TEKT4P2 AU 0.711861 0.6567 Uncertain 21_10862599_C->T 21 10862599 10862599 C T snp 3558.77 0/1 99 250 107 143 0.57 intergenic rs3883945 TEKT4P2 AU 0.549521 0.5546 0.5859 0.5325 Uncertain 21_10862618_T->C 21 10862618 10862618 T C snp 5386.77 0/1 99 250 59 191 0.76 intergenic rs3916251 TEKT4P2 AU 0.635383 0.6141 0.6339 0.5776 Uncertain 21_10862846_A->T 21 10862846 10862846 A T snp 5622.77 0/1 99 250 57 193 0.77 intergenic rs3916645 TEKT4P2 AU 0.873203 0.8244 0.939457 0.9251 0.7975 Uncertain 21_10862853_G->A 21 10862853 10862853 G A snp 2488.77 0/1 99 250 155 95 0.38 intergenic rs1961808 TEKT4P2 AU 0.390153 0.4898 0.4616 Uncertain 21_10862874_A->G 21 10862874 10862874 A G snp 4212.77 0/1 99 250 107 143 0.57 intergenic rs1807747 TEKT4P2 AU 0.5855 0.5324 Uncertain 21_10862947_G->A 21 10862947 10862947 G A snp 4139.77 0/1 99 250 112 138 0.55 intergenic rs3883944 TEKT4P2 AU 0.5858 0.5326 Uncertain 21_10863087_T->G 21 10863087 10863087 T G snp 5567.77 0/1 99 248 45 203 0.82 intergenic rs28521368 TEKT4P2 AU 0.875599 0.8254 0.949313 0.9256 0.8003 Uncertain 21_10863213_C->T 21 10863213 10863213 C T snp 270.77 0/1 99 41 30 11 0.27 intergenic rs28690289 TEKT4P2 AU Uncertain 21_10906989_C->T 21 10906989 10906989 C T snp 806.77 0/1 99 237 191 46 0.19 exonic rs210498 TPTE AU synonymous SNV NM_199261 exon24 c.G1572A p.R524R 0.251398 0.255 0.136168 0.1542 0.2544 Uncertain 21_10907137_A->G 21 10907137 10907137 A G snp 31.77 0/1 60 6 4 2 0.33 intronic rs1848203 TPTE AU NM_199261 exon1 c.136+97A>G Uncertain 21_10910203_T->C 21 10910203 10910203 T C snp 446.77 0/1 99 127 104 23 0.18 intronic rs76538888 TPTE AU NM_199261 exon3 c.3402-103T>C Uncertain 21_10910211_A->C 21 10910211 10910211 A C snp 643.77 0/1 99 165 132 33 0.2 intronic rs62211190 TPTE AU NM_199261 exon3 c.3402-95A>C Uncertain 21_10910253_G->T 21 10910253 10910253 G T snp 2006.77 0/1 99 250 173 77 0.31 intronic rs1828001 TPTE AU NM_199261 exon3 c.3402-53G>T Uncertain 21_10910291_C->T 21 10910291 10910291 C T snp 4591.77 0/1 99 250 99 151 0.6 intronic rs150480 TPTE AU NM_199261 exon3 c.3402-15C>T 0.5417 0.5492 Uncertain 21_10910311_T->G 21 10910311 10910311 T G snp 4161.77 0/1 99 250 103 147 0.59 exonic rs9996 TPTE AU nonsynonymous SNV NM_199261 exon22 c.A1445C p.Y482S 0.611222 0.5466 0.5396 0.5504 1 T 0.0 P -0.862 T 0.0 T 0.0 T Pathogenic 21_10910347_A->G 21 10910347 10910347 A G snp 7920.77 1/1 99 250 3 247 0.99 exonic rs150482 TPTE AU nonsynonymous SNV NM_199261 exon22 c.T1409C p.L470P 0.828674 0.997 0.7296 0.9969 0.37 T 0.0 P -0.977 T 0.0 T 0.004 T Pathogenic 21_10916290_T->C 21 10916290 10916290 T C snp 493.77 0/1 99 154 127 27 0.18 intronic rs61249862 TPTE AU NM_199261 exon5 c.9465-79T>C 0.174521 0.1587 Uncertain 21_10916293_A->G 21 10916293 10916293 A G snp 2451.77 0/1 99 159 58 101 0.64 intronic rs150483 TPTE AU NM_199261 exon5 c.9465-76A>G 0.677117 0.6339 Uncertain 21_10916322_G->A 21 10916322 10916322 G A snp 1946.77 0/1 99 206 118 88 0.43 intronic rs210506 TPTE AU NM_199261 exon5 c.9465-47G>A 0.3777 0.4647 Uncertain 21_10919969_C->G 21 10919969 10919969 C G snp 358.77 0/1 99 134 112 22 0.16 intronic rs4913680 TPTE AU NM_199261 exon6 c.13179-114C>G Uncertain 21_10920041_C->T 21 10920041 10920041 C T snp 545.77 0/1 99 244 205 39 0.16 intronic rs4913553 TPTE AU NM_199261 exon6 c.13179-42C>T 0.3619 0.4213 Uncertain 21_10920067_T->C 21 10920067 10920067 T C snp 443.77 0/1 99 238 204 34 0.14 intronic rs4913681 TPTE AU NM_199261 exon6 c.13179-16T>C 0.3660 0.4191 Uncertain 21_10920098_T->C 21 10920098 10920098 T C snp 5235.77 1/1 99 198 1 197 0.99 exonic rs212146 TPTE AU nonsynonymous SNV NM_199261 exon19 c.A1156G p.K386E 1 1 1 1 1 T 0.000 P -0.916 T 0.0 T 0.001 T Pathogenic 21_10920253_C->T 21 10920253 10920253 C T snp 52.74 1/1 6 2 0 2 1.0 intronic rs201331570 TPTE AU NM_199261 exon6 c.13260+89C>T Uncertain 21_10921867_C->A 21 10921867 10921867 C A snp 655.77 0/1 99 172 137 35 0.2 intronic rs201230109 TPTE AU NM_199261 exon7 c.15029-66C>A Uncertain 21_10922010_A->T 21 10922010 10922010 A T snp 878.77 0/1 99 224 179 45 0.2 intronic rs750381610 TPTE AU NM_199261 exon7 c.15091+15A>T 6.599e-05 0.0003 Uncertain 21_10935116_T->G 21 10935116 10935116 T G snp 361.77 0/1 99 24 13 11 0.46 intronic rs625018 TPTE AU NM_199261 exon10 c.28093+119T>G Uncertain 21_10941785_T->- 21 10941785 10941785 T - indel 824.73 0/1 99 95 62 33 0.35 intronic rs60630159 TPTE AU NM_199261 exon11 c.35003-122delT Uncertain 21_10941789_T->C 21 10941789 10941789 T C snp 300.77 0/1 99 102 85 17 0.17 intronic TPTE AU NM_199261 exon11 c.35003-118T>C Uncertain 21_10942036_T->A 21 10942036 10942036 T A snp 368.77 0/1 99 84 66 18 0.21 intronic rs2019999 TPTE AU NM_199261 exon11 c.35068+64T>A Uncertain 21_10942756_G->A 21 10942756 10942756 G A snp 584.77 0/1 99 250 214 36 0.14 exonic rs1810540 TPTE AU stopgain NM_199261 exon13 c.C685T p.R229X 0.3637 0.4192 1 T 1 A Pathogenic 21_10959806_G->T 21 10959806 10959806 G T snp 810.77 0/1 99 223 174 49 0.22 splicing rs212111 TPTE AU NM_199261 exon17 c.52896+6G>T 0.1782 0.2785 Pathogenic 21_10959881_G->A 21 10959881 10959881 G A snp 699.77 0/1 99 51 26 25 0.49 intronic rs212112 TPTE AU NM_199261 exon17 c.52896+81G>A Uncertain 21_10959951_G->A 21 10959951 10959951 G A snp 33.77 0/1 62 7 5 2 0.29 intronic rs212113 TPTE AU NM_199261 exon17 c.52896+151G>A Uncertain 21_10970003_G->A 21 10970003 10970003 G A snp 1041.77 0/1 99 246 190 56 0.23 splicing rs469719 TPTE AU NM_199261 exon19 c.63104-5G>A 0.204290 0.1785 0.2729 Pathogenic 21_10970017_C->T 21 10970017 10970017 C T snp 1095.77 0/1 99 240 185 55 0.23 exonic rs468525 TPTE AU synonymous SNV NM_199261 exon6 c.G111A p.A37A 0.253395 0.256 0.106874 0.1574 0.2617 Uncertain 21_10971210_G->T 21 10971210 10971210 G T snp 1031.77 0/1 99 139 93 46 0.33 intronic rs469872 TPTE AU NM_199261 exon20 c.64387-81G>T 0.277955 0.2619 Uncertain 21_10971892_G->A 21 10971892 10971892 G A snp 50.77 0/1 79 32 27 5 0.16 intronic rs10433039 TPTE AU NM_199261 exon20 c.64441+547G>A Uncertain 21_10973787_T->A 21 10973787 10973787 T A snp 2724.77 0/1 99 224 109 115 0.51 intronic rs469953 TPTE AU NM_199261 exon21 c.66872+11T>A Uncertain 21_10973798_T->C 21 10973798 10973798 T C snp 2568.77 0/1 99 213 103 110 0.52 intronic rs469961 TPTE AU NM_199261 exon21 c.66872+22T>C Uncertain 21_10973815_C->T 21 10973815 10973815 C T snp 780.77 0/1 99 186 142 44 0.24 intronic rs469960 TPTE AU NM_199261 exon21 c.66872+39C>T 0.270567 0.252 Uncertain 21_10998086_T->A 21 10998086 10998086 T A snp 463.77 1/1 36 12 0 12 1.0 intergenic rs461516 TPTE AU 0.846645 0.873 Uncertain 21_10998165_C->A 21 10998165 10998165 C A snp 2142.77 0/1 99 109 31 78 0.72 intergenic rs364232 TPTE AU Uncertain 21_11026874_G->T 21 11026874 11026874 G T snp 185.77 0/1 99 14 5 9 0.64 intronic rs6582728 BAGE2 AU 0.47484 0.4752 Uncertain 21_11026964_A->G 21 11026964 11026964 A G snp 250.77 0/1 99 116 97 19 0.16 intronic rs201873143 BAGE2 AU Uncertain 21_11027065_C->A 21 11027065 11027065 C A snp 310.77 0/1 99 167 145 22 0.13 intronic rs61601536 BAGE2 AU Uncertain 21_11027085_A->C 21 11027085 11027085 A C snp 1729.77 0/1 99 139 64 75 0.54 intronic rs6421268 BAGE2 AU Uncertain 21_11027129_C->T 21 11027129 11027129 C T snp 744.77 0/1 99 61 30 31 0.51 intronic rs4577378 BAGE2 AU Uncertain 21_11027175_T->C 21 11027175 11027175 T C snp 290.18 0/1 10 12 2 10 0.83 intronic rs4572690 BAGE2 AU Uncertain 21_11038649_C->A 21 11038649 11038649 C A snp 51.77 0/1 80 72 67 5 0.07 intronic rs28565510 BAGE2 AU Uncertain 21_11038722_C->A 21 11038722 11038722 C A snp 2961.77 0/1 99 242 125 117 0.48 splicing rs10433074 BAGE2 AU Pathogenic 21_11038802_G->A 21 11038802 11038802 G A snp 1598.77 0/1 99 250 178 72 0.29 UTR3 rs932840 BAGE2 AU Uncertain 21_11038843_G->C 21 11038843 11038843 G C snp 2375.77 0/1 99 250 145 105 0.42 UTR3 rs10433076 BAGE2 AU Uncertain 21_11038868_C->T 21 11038868 11038868 C T snp 4553.77 0/1 99 250 62 188 0.75 UTR3 rs599327 BAGE2 AU Uncertain 21_11038882_C->T 21 11038882 11038882 C T snp 550.77 0/1 99 250 210 40 0.16 UTR3 rs12627085 BAGE2 AU Uncertain 21_11038909_G->T 21 11038909 11038909 G T snp 1986.77 0/1 99 250 161 89 0.36 UTR3 rs28473122 BAGE2 AU Uncertain 21_11038957_T->C 21 11038957 11038957 T C snp 477.77 0/1 99 250 216 34 0.14 UTR3 rs10433077 BAGE2 AU Uncertain 21_11038967_T->C 21 11038967 11038967 T C snp 296.77 0/1 99 250 217 33 0.13 UTR3 rs28692944 BAGE2 AU Uncertain 21_11039055_A->G 21 11039055 11039055 A G snp 105.77 0/1 99 250 225 25 0.1 UTR3 rs28538601 BAGE2 AU Uncertain 21_11039072_G->T 21 11039072 11039072 G T snp 53.77 0/1 82 250 229 21 0.08 UTR3 rs1625833 BAGE2 AU Uncertain 21_11039079_C->A 21 11039079 11039079 C A snp 250.77 0/1 99 250 207 43 0.17 UTR3 rs3888469 BAGE2 AU 0.237819 0.2014 Uncertain 21_11039091_T->A 21 11039091 11039091 T A snp 191.77 0/1 99 249 221 28 0.11 UTR3 rs28572631 BAGE2 AU Uncertain 21_11039142_T->A 21 11039142 11039142 T A snp 565.77 0/1 99 214 183 31 0.14 UTR3 rs2537265 BAGE2 AU Uncertain 21_11039152_A->C 21 11039152 11039152 A C snp 611.77 0/1 99 202 172 30 0.15 UTR3 rs2740231 BAGE2 AU Uncertain 21_11039212_C->T 21 11039212 11039212 C T snp 81.77 0/1 99 144 130 14 0.1 UTR3 rs8128653 BAGE2 AU Uncertain 21_11049360_A->T 21 11049360 11049360 A T snp 1251.77 0/1 99 162 111 51 0.31 intronic rs1640139 BAGE2 AU Uncertain 21_11049364_C->T 21 11049364 11049364 C T snp 616.77 0/1 99 181 144 37 0.2 intronic rs468502 BAGE2 AU Uncertain 21_11049395_T->C 21 11049395 11049395 T C snp 4509.77 0/1 99 250 60 190 0.76 intronic rs467462 BAGE2 AU Uncertain 21_11049404_C->G 21 11049404 11049404 C G snp 3382.77 0/1 99 250 94 156 0.62 intronic rs2259244 BAGE2 AU Uncertain 21_11049461_G->T 21 11049461 11049461 G T snp 161.77 0/1 99 250 223 27 0.11 UTR3 rs28483076 BAGE2 AU Uncertain 21_11049503_T->A 21 11049503 11049503 T A snp 215.77 0/1 99 250 221 29 0.12 UTR3 rs7280925 BAGE2 AU Uncertain 21_11049516_G->A 21 11049516 11049516 G A snp 6166.77 1/1 99 249 0 249 1.0 UTR3 rs468629 BAGE2 AU 0.811502 0.7708 Uncertain 21_11049596_C->T 21 11049596 11049596 C T snp 149.77 0/1 99 250 228 22 0.09 exonic rs28571918 BAGE2 AU nonsynonymous SNV NM_182481 exon4 c.G305A p.C102Y 0.0924 0.0392 Pathogenic 21_11049621_G->A 21 11049621 11049621 G A snp 250.77 0/1 99 250 224 26 0.1 exonic rs28441174 BAGE2 AU stopgain NM_182481 exon4 c.C280T p.R94X 0.0938498 0.0268 0.1352 0.0689 Pathogenic 21_11049623_T->C 21 11049623 11049623 T C snp 263.77 0/1 99 250 223 27 0.11 splicing rs28537865 BAGE2 AU NM_182482 exon7 c.51+2T>C 0.0938498 0.0268 0.1334 0.0697 Pathogenic 21_11058119_C->T 21 11058119 11058119 C T snp 1001.77 0/1 99 118 54 64 0.54 UTR3 rs2261873 BAGE AU 0.4897 0.4938 Uncertain 21_11058226_G->C 21 11058226 11058226 G C snp 1231.77 0/1 99 249 193 56 0.22 exonic rs4913558 BAGE2 AU nonsynonymous SNV NM_182481 exon3 c.C214G p.P72A 0.4856 0.4703 Pathogenic 21_11058227_T->A 21 11058227 11058227 T A snp 829.77 0/1 99 250 123 127 0.51 exonic rs2775343 BAGE2 AU synonymous SNV NM_182481 exon3 c.A213T p.T71T 0.4416 0.4206 Uncertain 21_11058229_T->C 21 11058229 11058229 T C snp 857.77 0/1 99 248 128 120 0.48 exonic rs2775344 BAGE2 AU nonsynonymous SNV NM_182481 exon3 c.A211G p.T71A 0.4293 0.4241 Pathogenic 21_11058340_A->C 21 11058340 11058340 A C snp 70.77 0/1 99 214 195 19 0.09 intronic rs28617310 BAGE AU 0.0081869 0.002 0.0113 0.0049 Uncertain 21_11058349_T->G 21 11058349 11058349 T G snp 260.77 0/1 99 204 186 18 0.09 intronic rs209032 BAGE AU 0.485224 0.4921 0.4485 0.4534 Uncertain 21_11058404_-->CT 21 11058404 11058404 - CT indel 1767.73 0/1 99 76 7 69 0.91 intronic rs397702122 BAGE AU Uncertain 21_11058430_G->T 21 11058430 11058430 G T snp 275.77 0/1 99 34 13 21 0.62 intronic rs3888404 BAGE AU Uncertain 21_11059703_T->C 21 11059703 11059703 T C snp 74.77 0/1 99 7 4 3 0.43 intronic rs78137901 BAGE AU Uncertain 21_11059709_A->G 21 11059709 11059709 A G snp 74.77 0/1 99 7 4 3 0.43 intronic rs77949091 BAGE AU Uncertain 21_11059714_A->G 21 11059714 11059714 A G snp 107.77 0/1 99 10 6 4 0.4 intronic rs75639005 BAGE AU Uncertain 21_11059734_C->T 21 11059734 11059734 C T snp 59.77 0/1 88 15 12 3 0.2 UTR3 rs75838613 BAGE AU 0.00119808 0.001 Uncertain 21_11059735_T->C 21 11059735 11059735 T C snp 397.77 0/1 48 15 3 12 0.8 UTR3 rs2775349 BAGE AU 0.529952 0.5179 Uncertain 21_11059744_A->G 21 11059744 11059744 A G snp 161.77 0/1 99 16 9 7 0.44 UTR3 rs57566895 BAGE AU Uncertain 21_11059845_C->T 21 11059845 11059845 C T snp 772.77 0/1 99 96 56 40 0.42 intronic rs7364036 BAGE AU 0.4939 0.4952 Uncertain 21_11059854_A->G 21 11059854 11059854 A G snp 428.77 0/1 99 97 72 25 0.26 intronic rs75079963 BAGE AU 0.3784 0.4296 Uncertain 21_11059861_T->G 21 11059861 11059861 T G snp 323.77 0/1 99 99 76 23 0.23 intronic rs2775351 BAGE AU 0.1092 0.1835 Uncertain 21_11059877_T->C 21 11059877 11059877 T C snp 950.77 0/1 99 93 47 46 0.49 intronic rs7364059 BAGE AU Uncertain 21_11059951_T->C 21 11059951 11059951 T C snp 75.77 0/1 99 39 31 8 0.21 intronic rs75112368 BAGE AU Uncertain 21_11059982_A->G 21 11059982 11059982 A G snp 62.77 0/1 91 19 15 4 0.21 intronic rs75720212 BAGE AU Uncertain 21_11060013_T->C 21 11060013 11060013 T C snp 83.77 0/1 30 4 1 3 0.75 intronic rs2838200 BAGE AU Uncertain 21_11098576_G->C 21 11098576 11098576 G C snp 53.77 0/1 82 49 41 8 0.16 intronic rs74646875 BAGE AU NM_001187 exon5 c.1181-147G>C Uncertain 21_11098582_T->G 21 11098582 11098582 T G snp 123.77 0/1 99 53 43 10 0.19 intronic rs73891531 BAGE AU NM_001187 exon5 c.1181-141T>G Uncertain 21_11098597_A->G 21 11098597 11098597 A G snp 153.77 0/1 99 65 54 11 0.17 intronic rs73891533 BAGE AU NM_001187 exon5 c.1181-126A>G Uncertain 21_11098616_A->G 21 11098616 11098616 A G snp 135.77 0/1 99 83 71 12 0.14 intronic rs76377570 BAGE AU NM_001187 exon5 c.1181-107A>G Uncertain 21_11098617_T->C 21 11098617 11098617 T C snp 177.77 0/1 99 83 70 13 0.16 intronic rs73891534 BAGE AU NM_001187 exon5 c.1181-106T>C Uncertain 21_11098625_C->T 21 11098625 11098625 C T snp 131.77 0/1 99 92 78 14 0.15 intronic rs77191978 BAGE AU NM_001187 exon5 c.1181-98C>T Uncertain 21_11098626_G->A 21 11098626 11098626 G A snp 589.77 0/1 99 93 63 30 0.32 intronic rs1967649 BAGE AU NM_001187 exon5 c.1181-97G>A Uncertain 21_11098664_A->G 21 11098664 11098664 A G snp 131.77 0/1 99 121 104 17 0.14 intronic rs75742769 BAGE AU NM_001187 exon5 c.1181-59A>G 0.2603 0.1453 Uncertain 21_11098674_T->C 21 11098674 11098674 T C snp 3126.77 1/1 99 129 2 127 0.98 intronic rs1752238 BAGE AU NM_001187 exon5 c.1181-49T>C 0.995807 1 0.995035 0.5874 0.6528 Uncertain 21_11098704_A->G 21 11098704 11098704 A G snp 298.77 0/1 99 132 109 23 0.17 exonic rs74415742 BAGE2 AU nonsynonymous SNV NM_182481 exon1 c.T14C p.V5A 0.2596 0.1253 Pathogenic 21_11098723_T->C 21 11098723 11098723 T C snp 716.77 0/1 99 136 100 36 0.26 splicing rs73151874 BAGE AU NM_001187 exon5 c.1181T>C 0.0710863 0.1052 0.2862 0.2313 Pathogenic 21_11098728_C->T 21 11098728 11098728 C T snp 219.77 0/1 99 135 117 18 0.13 exonic rs113315187 BAGE AU nonsynonymous SNV NM_001187 exon1 c.G10A p.G4R 0.2598 0.1233 Pathogenic 21_11098732_C->T 21 11098732 11098732 C T snp 273.77 0/1 99 135 114 21 0.16 exonic rs73891536 BAGE AU synonymous SNV NM_001187 exon1 c.G6A p.A2A 0.0003 0.0001 CLINSIG=untested;CLNDBN=Malignant_melanoma;CLNREVSTAT=no_assertion_provided;CLNACC=RCV000072781.2;CLNDSDB=MedGen:SNOMED_CT;CLNDSDBID=C0025202:2092003 Uncertain 21_11098756_C->A 21 11098756 11098756 C A snp 285.77 0/1 99 112 89 23 0.21 UTR5 rs76612892 BAGE AU 3.314e-05 0 Uncertain 21_11098763_C->T 21 11098763 11098763 C T snp 311.77 0/1 99 118 92 26 0.22 UTR5 rs73891538 BAGE AU 4.973e-05 0 Uncertain 21_11098773_G->A 21 11098773 11098773 G A snp 232.77 0/1 99 111 92 19 0.17 UTR5 rs77771067 BAGE AU 0.000399361 0.000312 0.0002 0.0003 Uncertain 21_11098792_T->C 21 11098792 11098792 T C snp 249.77 0/1 99 95 76 19 0.2 UTR5 rs80334250 BAGE AU Uncertain 21_11098827_C->T 21 11098827 11098827 C T snp 197.77 0/1 99 57 44 13 0.23 UTR5 rs79274499 BAGE AU Uncertain 21_11098863_A->G 21 11098863 11098863 A G snp 339.77 0/1 99 19 7 12 0.63 UTR5 rs75318310 BAGE AU Uncertain 21_14756438_T->C 21 14756438 14756438 T C snp 352.78 1/1 27 14 1 13 0.93 intergenic rs3126400 ANKRD30BP2 AU 0.520966 0.4266 Uncertain 21_14756449_-->TATGTG 21 14756449 14756449 - TATGTG indel 632.73 0/1 99 15 4 11 0.73 intergenic rs386365752 ANKRD30BP2 AU Uncertain 21_14756794_G->A 21 14756794 14756794 G A snp 1483.77 0/1 99 122 56 66 0.54 intergenic rs2792526 ANKRD30BP2 AU 0.296925 0.4266 Uncertain 21_14756926_T->C 21 14756926 14756926 T C snp 2122.77 0/1 99 149 65 84 0.56 intergenic rs41505545 ANKRD30BP2 AU 0.0415335 0.1766 Uncertain 21_14757043_T->C 21 14757043 14757043 T C snp 6236.77 1/1 99 227 1 226 1.0 intergenic rs2257596 ANKRD30BP2 AU 0.640575 0.8671 Uncertain 21_14760151_T->C 21 14760151 14760151 T C snp 2130.77 1/1 99 91 2 89 0.98 intergenic rs2775777 ANKRD30BP2 AU 0.962859 0.9891 Uncertain 21_14760203_C->T 21 14760203 14760203 C T snp 690.77 0/1 99 75 43 32 0.43 intergenic rs2775779 ANKRD30BP2 AU 0.296925 0.4266 Uncertain 21_14765864_A->T 21 14765864 14765864 A T snp 55.74 1/1 6 2 0 2 1.0 intergenic rs143497898 ANKRD30BP2 AU 0.955471 0.9881 Uncertain 21_14766093_G->A 21 14766093 14766093 G A snp 540.77 1/1 39 27 0 27 1.0 intergenic rs2775805 ANKRD30BP2 AU 0.917332 0.8671 Uncertain 21_14771325_C->T 21 14771325 14771325 C T snp 606.77 0/1 99 85 52 33 0.39 intergenic rs78104043 ANKRD30BP2 AU 0.298123 0.4286 Uncertain 21_14771326_T->G 21 14771326 14771326 T G snp 591.77 0/1 99 84 53 31 0.37 intergenic rs79003645 ANKRD30BP2 AU 0.298323 0.4286 Uncertain 21_14771327_T->C 21 14771327 14771327 T C snp 594.77 0/1 99 83 52 31 0.37 intergenic rs77453818 ANKRD30BP2 AU 0.298323 0.4286 Uncertain 21_14778721_A->T 21 14778721 14778721 A T snp 58.74 1/1 6 7 0 7 1.0 ncRNA_exonic rs2747232 MIR3156-3 AU 0.965256 0.9871 0.9675 0.9844 Uncertain 21_14778811_C->T 21 14778811 14778811 C T snp 250.8 1/1 21 11 0 11 1.0 upstream rs112146711 MIR3156-3 AU 0.98103 0.9871 0.9793 1 Uncertain 21_14780604_G->T 21 14780604 14780604 G T snp 302.77 0/1 99 28 14 14 0.5 intergenic rs3117279 MIR3156-3 AU 0.144169 0.2639 Uncertain 21_14916824_T->A 21 14916824 14916824 T A snp 1062.77 1/1 81 29 0 29 1.0 intergenic rs7280211 MIR3156-3 AU 0.309305 0.501 Uncertain 21_14917383_T->A 21 14917383 14917383 T A snp 313.77 0/1 99 29 16 13 0.45 upstream rs149355395 LOC102724188 AU 0.148163 0.4335 Uncertain 21_15013735_A->G 21 15013735 15013735 A G snp 3122.77 1/1 99 105 0 105 1.0 exonic rs78643169 POTED AU nonsynonymous SNV NM_174981 exon11 c.A1603G p.M535V 0.96 T 1.000 N -0.946 T 0.053 T 0.007 T Pathogenic 21_15013945_G->A 21 15013945 15013945 G A snp 480.77 1/1 39 14 0 14 1.0 downstream rs201280833 POTED AU Uncertain 21_15373420_C->A 21 15373420 15373420 C A snp 4507.77 1/1 99 164 0 164 1.0 intergenic rs1297087 ANKRD20A11P AU 0.934704 1 Uncertain 21_15373568_G->A 21 15373568 15373568 G A snp 180.9 1/1 15 5 0 5 1.0 intergenic rs1297088 ANKRD20A11P AU 0.806909 0.9345 Uncertain 21_15374385_G->A 21 15374385 15374385 G A snp 42.77 0/1 71 55 48 7 0.13 intergenic rs2259963 ANKRD20A11P AU Uncertain 21_15399864_T->C 21 15399864 15399864 T C snp 593.77 0/1 99 58 30 28 0.48 intergenic rs2298673 ANKRD20A11P AU 0.255192 0.5159 Uncertain 21_15399921_G->T 21 15399921 15399921 G T snp 550.77 0/1 99 56 30 26 0.46 intergenic rs546434116 ANKRD20A11P AU 0.000399361 0.002 Uncertain 21_15516976_T->A 21 15516976 15516976 T A snp 1195.77 1/1 84 51 1 50 0.98 exonic rs7283442 LIPI AD nonsynonymous SNV NM_198996 exon9 c.A1326T p.R442S 1 1 1 1 0.28 T 0.0 P -1.005 T 0.005 T 0.012 T Pathogenic 21_15524843_A->G 21 15524843 15524843 A G snp 317.78 1/1 24 13 0 13 1.0 intronic rs57726121 LIPI AD NM_001302998 exon3 c.43580-50A>G 0.428315 0.6627 0.344136 0.4217 0.6846 Uncertain 21_15596772_T->G 21 15596772 15596772 T G snp 291.77 0/1 99 32 18 14 0.44 exonic rs409782 RBM11 AU nonsynonymous SNV NM_144770 exon4 c.T346G p.L116V 0.755791 0.7331 0.798124 0.8136 0.7812 0.57 T 0.0 P -1.020 T 0.0 T 0.0 T Pathogenic 21_15596882_T->C 21 15596882 15596882 T C snp 250.84 0/1 18 12 1 11 0.92 intronic rs410052 RBM11 AU NM_144770 exon4 c.8351+24T>C 0.807308 0.746 0.854320 0.8251 0.7594 Uncertain 21_15599144_T->C 21 15599144 15599144 T C snp 1277.77 0/1 99 94 45 49 0.52 intronic rs2822444 RBM11 AU NM_144770 exon5 c.10693-56T>C 0.434704 0.4107 Uncertain 21_15646397_A->G 21 15646397 15646397 A G snp 1082.77 1/1 78 37 0 37 1.0 ncRNA_exonic rs8129984 ABCC13 AU 0.86861 0.9544 0.8794 0.9794 Uncertain 21_15652069_A->G 21 15652069 15652069 A G snp 163.77 0/1 99 14 6 8 0.57 ncRNA_intronic rs2254297 ABCC13 AU 0.400958 0.5139 Uncertain 21_15663777_-->GTGTGTGTGT 21 15663777 15663777 - GTGTGTGTGT indel 1360.73 0/1 99 53 37 16 0.3 ncRNA_intronic ABCC13 AU Uncertain 21_15748186_C->A 21 15748186 15748186 C A snp 993.77 0/1 99 77 32 45 0.58 intronic rs2822642 HSPA13 AU NM_006948 exon2 c.2203+46C>A 0.713259 0.631 0.777718 0.7176 0.6235 Uncertain 21_15755349_T->C 21 15755349 15755349 T C snp 2106.77 0/1 99 217 120 97 0.45 intronic rs7281846 HSPA13 AU NM_006948 exon5 c.9478-66T>C 0.537939 0.5516 0.605782 Uncertain 21_15870638_C->T 21 15870638 15870638 C T snp 431.77 1/1 33 11 0 11 1.0 intronic rs2274796 SAMSN1 AU NM_001286523 exon2 c.12530-124C>T 0.765375 0.8155 Uncertain 21_15884949_A->T 21 15884949 15884949 A T snp 1198.77 1/1 87 45 0 45 1.0 intronic rs3761320 SAMSN1 AU NM_001286523 exon5 c.26662+55A>T 0.558906 0.6071 Uncertain 21_15884955_A->T 21 15884955 15884955 A T snp 487.77 0/1 99 42 20 22 0.52 intronic rs3761321 SAMSN1 AU NM_001286523 exon5 c.26662+61A>T 0.230232 0.2788 Uncertain 21_15884974_-->AAG 21 15884974 15884974 - AAG indel 915.73 0/1 99 34 16 18 0.53 intronic rs10679308 SAMSN1 AU NM_001286523 exon5 c.26662+80insAAG 0.230232 0.2788 Uncertain 21_15893567_A->T 21 15893567 15893567 A T snp 493.77 0/1 99 47 24 23 0.49 intronic rs760344 SAMSN1 AU NM_001286523 exon7 c.35310+25A>T 0.200879 0.2341 0.185565 0.1711 0.2441 Uncertain 21_15893594_T->C 21 15893594 15893594 T C snp 901.77 1/1 66 32 0 32 1.0 intronic rs760345 SAMSN1 AU NM_001286523 exon7 c.35310+52T>C 0.478634 0.5615 0.459509 0.4827 0.5465 Uncertain 21_15918577_G->C 21 15918577 15918577 G C snp 621.77 0/1 99 71 42 29 0.41 exonic rs7281104 SAMSN1 AU synonymous SNV NM_022136 exon1 c.C6G p.L2L 0.303514 0.2946 0.275753 0.2586 0.2726 Uncertain 21_15918714_A->G 21 15918714 15918714 A G snp 1201.77 1/1 87 42 0 42 1.0 intronic rs12329657 SAMSN1 AU NM_001286523 exon9 c.60449+33A>G 0.600839 0.7937 Uncertain 21_15964920_C->G 21 15964920 15964920 C G snp 569.77 0/1 99 50 23 27 0.54 ncRNA_intronic rs466913 SAMSN1-AS1 AU 0.741613 0.4464 0.7319 0.5201 Uncertain 21_15966421_T->A 21 15966421 15966421 T A snp 700.77 0/1 99 55 25 30 0.55 ncRNA_intronic rs460852 SAMSN1-AS1 AU 0.721845 0.4514 0.7129 0.5455 Uncertain 21_15974409_T->C 21 15974409 15974409 T C snp 972.77 1/1 72 32 0 32 1.0 exonic rs456067 LOC388813 AU nonsynonymous SNV NM_001256579 exon5 c.A250G p.N84D 1 1 1 1 1 T 0.000 P -0.943 T Pathogenic 21_15984864_G->T 21 15984864 15984864 G T snp 886.77 0/1 99 94 53 41 0.44 intronic rs1292581 LOC388813 AU NM_001256579 exon5 c.20254-332G>T 0.146565 0.1687 Uncertain 21_15984982_C->A 21 15984982 15984982 C A snp 746.77 0/1 99 57 28 29 0.51 intronic rs2822809 LOC388813 AU NM_001256579 exon5 c.20254-214C>A 0.464657 0.5089 0.4966 0.4938 Uncertain 21_15991786_C->G 21 15991786 15991786 C G snp 436.77 1/1 33 11 0 11 1.0 intronic rs1292586 LOC388813 AU NM_001256579 exon6 c.23395+3449C>G 0.790335 0.7937 Uncertain 21_16015250_A->G 21 16015250 16015250 A G snp 524.77 0/1 99 34 14 20 0.59 intronic rs458292 LOC388813 AU NM_001256579 exon7 c.50380-72A>G 0.74361 0.8214 Uncertain 21_17533075_-->TTCTTC 21 17533075 17533075 - TTCTTC indel 671.73 0/1 99 21 10 11 0.52 ncRNA_intronic rs10680332 MIR99AHG AU Uncertain 21_17533418_G->A 21 17533418 17533418 G A snp 180.9 1/1 15 5 0 5 1.0 ncRNA_intronic rs6517691 MIR99AHG AU 1 1 Uncertain 21_17559890_G->T 21 17559890 17559890 G T snp 250.8 1/1 21 7 0 7 1.0 ncRNA_intronic rs238948 MIR99AHG AU 0.76278 0.9881 Uncertain 21_17560174_-->TCCTTCCC 21 17560174 17560174 - TCCTTCCC indel 3857.73 1/1 99 80 0 80 1.0 ncRNA_intronic rs113323431 MIR99AHG AU 0.953674 0.9911 Uncertain 21_17763803_G->A 21 17763803 17763803 G A snp 56.74 1/1 6 2 0 2 1.0 ncRNA_intronic rs2218735 MIR99AHG AU 0.513379 0.876 Uncertain 21_18814243_T->C 21 18814243 18814243 T C snp 224.77 0/1 99 12 5 7 0.58 ncRNA_intronic rs208893 LINC01549 AU 0.519569 0.7054 Uncertain 21_18914370_T->A 21 18914370 18914370 T A snp 592.77 0/1 99 52 28 24 0.46 intronic rs1542800 CXADR AU NM_001207066 exon2 c.33897-4974T>A 0.205272 0.2202 0.2052 0.2653 Uncertain 21_18915188_C->G 21 18915188 18915188 C G snp 141.77 0/1 99 14 8 6 0.43 intronic rs2824340 CXADR AU NM_001207066 exon2 c.33897-4156C>G 0.22524 0.2202 Uncertain 21_18915218_G->A 21 18915218 18915218 G A snp 262.77 0/1 99 24 13 11 0.46 intronic rs2824341 CXADR AU NM_001207066 exon2 c.33897-4126G>A 0.302117 0.3631 Uncertain 21_18933828_A->G 21 18933828 18933828 A G snp 1119.77 0/1 99 117 63 54 0.46 intronic rs2824359 CXADR AU NM_001207066 exon6 c.48347+34A>G 0.175519 0.2183 0.167974 0.1995 0.2310 Uncertain 21_18966725_ACAA->- 21 18966725 18966728 ACAA - indel 945.73 0/1 99 43 17 26 0.6 intronic rs3074937 BTG3 AU NM_006806 exon1 c.240+75_240+78delACAA 0.48762 0.4048 Uncertain 21_18976564_G->A 21 18976564 18976564 G A snp 142.77 0/1 99 14 7 7 0.5 exonic rs530013965 BTG3 AU synonymous SNV NM_001130914 exon4 c.C342T p.D114D 0.000998403 0.004 0.0002 0.0021 Uncertain 21_19167479_T->C 21 19167479 19167479 T C snp 2025.77 1/1 99 71 0 71 1.0 intronic rs2258119 C21orf91 AU NM_017447 exon2 c.1793-45T>C 0.282348 0.3988 0.236873 0.2265 0.3879 Uncertain 21_19169218_G->C 21 19169218 19169218 G C snp 5019.77 1/1 99 172 0 172 1.0 exonic rs2824495 C21orf91 AU nonsynonymous SNV NM_001100420 exon3 c.C345G p.N115K 0.244609 0.3978 0.206067 0.2168 0.3893 0.0 P -0.914 T 0.001 T 0.002 T Pathogenic 21_19190427_C->T 21 19190427 19190427 C T snp 86.28 1/1 9 3 0 3 1.0 intronic rs243556 C21orf91 AU NM_017447 exon4 c.24777-81C>T 0.876797 0.9395 Uncertain 21_19506900_A->G 21 19506900 19506900 A G snp 216.84 1/1 18 6 0 6 1.0 intronic rs205700 CHODL AU 0.328075 0.3948 Uncertain 21_19666526_C->T 21 19666526 19666526 C T snp 219.77 0/1 99 15 7 8 0.53 intronic rs6517807 TMPRSS15 AR NM_002772 exon5 c.24301-60C>T 0.701877 0.6399 Uncertain 21_19666530_T->C 21 19666530 19666530 T C snp 218.77 0/1 99 18 10 8 0.44 intronic rs4395327 TMPRSS15 AR NM_002772 exon5 c.24301-56T>C 0.721046 0.6399 Uncertain 21_19666910_A->G 21 19666910 19666910 A G snp 860.77 0/1 99 70 36 34 0.49 intronic rs2824718 TMPRSS15 AR NM_002772 exon6 c.24634-9A>G 0.350439 0.5496 0.336462 0.4256 0.5701 Uncertain 21_19670118_G->A 21 19670118 19670118 G A snp 859.77 0/1 99 99 60 39 0.39 exonic rs2824721 TMPRSS15 AR nonsynonymous SNV NM_002772 exon19 c.C2194T p.P732S 0.700879 0.6389 0.756728 0.7543 0.6633 0.0 P -0.962 T 0.0 T 0.0 T Pathogenic 21_19687376_G->A 21 19687376 19687376 G A snp 1929.77 1/1 99 63 0 63 1.0 intronic rs2144203 TMPRSS15 AR NM_002772 exon9 c.45177-86G>A 0.957468 1 Uncertain 21_19704296_C->T 21 19704296 19704296 C T snp 726.77 0/1 99 54 25 29 0.54 intronic rs1155847 TMPRSS15 AR NM_002772 exon12 c.62115-104C>T 0.894569 0.9048 Uncertain 21_19713821_C->T 21 19713821 19713821 C T snp 1208.77 0/1 99 122 69 53 0.43 exonic rs2824751 TMPRSS15 AR synonymous SNV NM_002772 exon13 c.G1473A p.A491A 0.183706 0.1101 0.219360 0.2232 0.1039 Uncertain 21_19744415_-->TG 21 19744415 19744415 - TG indel 558.73 ./1 99 16 1 15 0.94 intronic rs56932398 TMPRSS15 AR NM_002772 exon20 c.102224-94insTG Uncertain 21_19744415_-->TGTG 21 19744415 19744415 - TGTG indel 558.73 ./1 99 16 1 15 0.94 intronic rs56932398 TMPRSS15 AR NM_002772 exon20 c.102224-94insTGTG Uncertain 21_19770117_T->C 21 19770117 19770117 T C snp 155.77 0/1 99 16 9 7 0.44 intronic rs2824803 TMPRSS15 AR NM_002772 exon23 c.127910-78T>C 0.323482 0.4812 Uncertain 21_19770734_G->C 21 19770734 19770734 G C snp 216.77 0/1 99 12 5 7 0.58 intronic rs2824805 TMPRSS15 AR NM_002772 exon24 c.128361+88G>C 0.236222 0.4524 Uncertain 21_20058298_C->T 21 20058298 20058298 C T snp 1959.77 1/1 99 70 0 70 1.0 ncRNA_intronic rs6517825 LOC101927797 AU 0.982827 1 Uncertain 21_22371166_G->A 21 22371166 22371166 G A snp 117.77 0/1 99 8 3 5 0.63 intronic rs6518017 NCAM2 AU NM_004540 exon1 c.55+230G>A 0.368011 0.2877 Uncertain 21_22643720_A->G 21 22643720 22643720 A G snp 606.77 1/1 45 18 0 18 1.0 intronic rs8127865 NCAM2 AU NM_004540 exon2 c.282016-9177A>G 0.894768 0.994 Uncertain 21_22652720_C->T 21 22652720 22652720 C T snp 225.84 1/1 18 7 0 7 1.0 intronic rs9306013 NCAM2 AU NM_004540 exon2 c.282016-177C>T 0.994209 1 Uncertain 21_22656410_T->- 21 22656410 22656410 T - indel 299.74 1/1 30 10 0 10 1.0 intronic rs34246223 NCAM2 AU NM_004540 exon3 c.285632-103delT 0.994209 1 Uncertain 21_22658545_TTTGTGA->- 21 22658545 22658551 TTTGTGA - indel 4989.73 1/1 99 55 0 55 1.0 intronic rs111713483 NCAM2 AU NM_004540 exon4 c.287707-43_287707-37delTTTGTGA 0.834065 0.8581 0.763342 0.7896 0.8361 Uncertain 21_22696657_G->C 21 22696657 22696657 G C snp 933.77 1/1 69 34 0 34 1.0 intronic rs76287751 NCAM2 AU NM_004540 exon6 c.325821-45G>C 0.0766773 0.2044 0.029955 0.0437 0.1949 Uncertain 21_22696837_C->G 21 22696837 22696837 C G snp 1957.77 1/1 99 70 0 70 1.0 intronic rs232467 NCAM2 AU NM_004540 exon6 c.325939+17C>G 0.621006 0.631 0.709594 0.7073 0.6066 Uncertain 21_22696882_G->- 21 22696882 22696882 G - indel 1961.73 1/1 99 56 0 56 1.0 intronic rs11334381 NCAM2 AU NM_004540 exon6 c.325939+62delG 1 1 Uncertain 21_22711014_C->A 21 22711014 22711014 C A snp 94.28 1/1 9 4 0 4 1.0 intronic rs984754 NCAM2 AU NM_004540 exon8 c.339973+160C>A 0.860024 0.9931 Uncertain 21_22746187_T->C 21 22746187 22746187 T C snp 4569.77 1/1 99 164 0 164 1.0 exonic rs232518 NCAM2 AU nonsynonymous SNV NM_004540 exon9 c.T1049C p.L350P 0.389776 0.5804 0.356739 0.3500 0.5808 0.27 T 0.795 P -0.917 T 0.0 T 0.001 T Pathogenic 21_22804674_C->T 21 22804674 22804674 C T snp 307.77 0/1 99 31 19 12 0.39 intronic rs2826833 NCAM2 AU NM_004540 exon12 c.433720+73C>T 0.48143 0.3135 Uncertain 21_26965071_G->A 21 26965071 26965071 G A snp 329.77 0/1 99 33 19 14 0.42 intronic rs2248298 MRPL39 AU NM_017446 exon3 c.7105-52G>A 0.132188 0.1548 Uncertain 21_26965148_G->A 21 26965148 26965148 G A snp 734.77 0/1 99 87 51 36 0.41 exonic rs1135638 MRPL39 AU synonymous SNV NM_017446 exon8 c.C897T p.G299G 0.732428 0.7153 0.801015 0.7728 0.7258 Uncertain 21_26965205_T->C 21 26965205 26965205 T C snp 699.77 0/1 99 81 47 34 0.42 exonic rs1057885 MRPL39 AU synonymous SNV NM_017446 exon8 c.A840G p.V280V 0.732428 0.7153 0.801092 0.7729 0.7258 Uncertain 21_26969703_T->C 21 26969703 26969703 T C snp 320.77 0/1 99 34 14 20 0.59 exonic rs1135618 MRPL39 AU synonymous SNV NM_017446 exon6 c.A612G p.K204K 0.732827 0.7153 0.802462 0.7817 0.7351 Uncertain 21_26971995_T->C 21 26971995 26971995 T C snp 366.77 0/1 99 30 17 13 0.43 intronic rs2829827 MRPL39 AU NM_017446 exon6 c.14092-115T>C 0.138179 0.1548 Uncertain 21_26973663_-->TATACT 21 26973663 26973663 - TATACT indel 3723.73 0/1 99 122 71 51 0.42 intronic rs140202502 MRPL39 AU NM_017446 exon7 c.15661-16insTATACT 0.732628 0.7143 0.7734 0.7227 Uncertain 21_26973861_G->T 21 26973861 26973861 G T snp 37.77 0/1 66 7 5 2 0.29 intronic rs2829830 MRPL39 AU NM_017446 exon7 c.15761+82G>T 0.138179 0.1548 Uncertain 21_26976222_C->T 21 26976222 26976222 C T snp 1675.77 0/1 99 226 143 83 0.37 exonic rs7278168 MRPL39 AU synonymous SNV NM_017446 exon3 c.G306A p.K102K 0.130391 0.1538 0.070967 0.0529 0.1629 Uncertain 21_26976237_C->T 21 26976237 26976237 C T snp 1495.77 0/1 99 211 129 82 0.39 exonic rs7278284 MRPL39 AU synonymous SNV NM_017446 exon3 c.G291A p.E97E 0.138379 0.1538 0.078118 0.0550 0.1630 Uncertain 21_26976321_G->A 21 26976321 26976321 G A snp 846.77 0/1 99 74 39 35 0.47 intronic rs7278569 MRPL39 AU NM_017446 exon8 c.18229+74G>A 0.137979 0.1548 Uncertain 21_26978950_A->G 21 26978950 26978950 A G snp 3316.77 1/1 99 118 0 118 1.0 exonic rs3989369 MRPL39 AU nonsynonymous SNV NM_017446 exon2 c.T91C p.S31P 0.907947 0.9524 0.903660 0.9461 0.9599 1 T 0.0 P -0.969 T 0.001 T 0.002 T Pathogenic 21_27056099_C->A 21 27056099 27056099 C A snp 171.77 0/1 99 19 11 8 0.42 intronic rs2829863 JAM2 AU NM_001270408 exon2 c.44061-95C>A 0.394569 0.255 Uncertain 21_27124529_C->T 21 27124529 27124529 C T snp 646.77 0/1 99 96 62 34 0.35 exonic rs114798549 GABPA AU synonymous SNV NM_001197297 exon5 c.C537T p.R179R 0.0115815 0.0565 0.000154 0.0048 0.0659 Uncertain 21_27141273_-->ATTT 21 27141273 27141273 - ATTT indel 1456.73 0/1 99 50 25 25 0.5 intronic rs35608323 GABPA AU NM_001197297 exon10 c.27405-41insATTT 0.845248 0.8452 0.774898 0.8148 0.8105 Uncertain 21_27254092_A->G 21 27254092 27254092 A G snp 539.77 0/1 99 42 18 24 0.57 intronic rs45513597 APP AD NM_001136130 exon1 c.102+10A>G 0.0061901 0.0288 0.0027 0.0342 Uncertain 21_27254194_C->T 21 27254194 27254194 C T snp 46.77 0/1 31 3 1 2 0.67 intronic rs2829966 APP AD NM_001136130 exon1 c.102+112C>T 0.557907 0.4028 Uncertain 21_27326756_T->A 21 27326756 27326756 T A snp 99.28 1/1 9 3 0 3 1.0 intronic rs2829996 APP AD NM_001136130 exon6 c.72923-147T>A 0.759585 0.5804 Uncertain 21_27326859_G->A 21 27326859 27326859 G A snp 827.77 0/1 99 59 27 32 0.54 intronic rs2829997 APP AD NM_001136130 exon6 c.72923-44G>A 0.468251 0.5437 0.484315 0.6116 0.5572 Uncertain 21_27327862_G->C 21 27327862 27327862 G C snp 286.77 0/1 99 20 9 11 0.55 intronic rs2251337 APP AD NM_001136130 exon7 c.73960-78G>C 0.795128 0.5804 Uncertain 21_27328175_T->C 21 27328175 27328175 T C snp 1401.77 0/1 99 116 56 60 0.52 intronic rs440666 APP AD NM_001136130 exon7 c.74089+106T>C 0.677716 0.5833 Uncertain 21_27348372_A->G 21 27348372 27348372 A G snp 1766.77 1/1 99 59 0 59 1.0 intronic rs3737413 APP AD NM_001136130 exon9 c.94361+31A>G 0.314297 0.4345 0.216592 0.2558 0.4477 Uncertain 21_27348447_A->G 21 27348447 27348447 A G snp 425.77 1/1 33 11 0 11 1.0 intronic rs3737414 APP AD NM_001136130 exon9 c.94361+106A>G 0.314696 0.4345 Uncertain 21_27348460_T->G 21 27348460 27348460 T G snp 99.28 1/1 9 3 0 3 1.0 intronic rs3737415 APP AD NM_001136130 exon9 c.94361+119T>G 0.480232 0.4881 Uncertain 21_27369481_C->T 21 27369481 27369481 C T snp 675.77 1/1 51 19 0 19 1.0 intronic rs2051504 APP AD NM_001136130 exon11 c.115694-193C>T 1 1 Uncertain 21_27382362_-->G 21 27382362 27382362 - G indel 5714.73 1/1 99 127 0 127 1.0 intronic rs11455808 APP AD NM_001136130 exon12 c.118517+9865insG 1 1 Uncertain 21_27382417_C->G 21 27382417 27382417 C G snp 2334.77 1/1 99 92 0 92 1.0 intronic rs2409166 APP AD NM_001136130 exon12 c.118517+9920C>G 1 1 Uncertain 21_27543049_C->G 21 27543049 27543049 C G snp 121.77 0/1 99 12 6 6 0.5 UTR5 rs459543 APP AD 0.130591 0.2163 Uncertain 21_27543094_C->G 21 27543094 27543094 C G snp 80.77 0/1 99 7 4 3 0.43 UTR5 rs45476095 APP AD 0.0153754 0.0556 Uncertain 21_27852724_A->G 21 27852724 27852724 A G snp 2194.77 0/1 99 187 91 96 0.51 exonic rs966410 CYYR1 AU synonymous SNV NM_052954 exon3 c.T201C p.V67V 0.456669 0.3353 0.491158 0.4460 0.2938 Uncertain 21_27852764_A->C 21 27852764 27852764 A C snp 1807.77 0/1 99 151 75 76 0.5 intronic rs75479621 CYYR1 AU NM_052954 exon2 c.11929+16A>C 0.0071885 0.0347 0.000308 0.0024 0.0309 Uncertain 21_28210657_T->C 21 28210657 28210657 T C snp 821.77 0/1 99 80 46 34 0.42 intronic rs229042 ADAMTS1 AU NM_006988 exon1 c.700+60T>C 0.69389 0.4692 Uncertain 21_28211094_A->G 21 28211094 28211094 A G snp 185.77 0/1 99 13 7 6 0.46 intronic rs229043 ADAMTS1 AU NM_006988 exon2 c.1036+161A>G 0.698882 0.4702 Uncertain 21_28212760_G->A 21 28212760 28212760 G A snp 1862.77 0/1 99 170 88 82 0.48 exonic rs436525 ADAMTS1 AU synonymous SNV NM_006988 exon5 c.C1500T p.P500P 0.565895 0.3909 0.675073 0.6203 0.3973 Uncertain 21_28215619_T->C 21 28215619 28215619 T C snp 37.77 0/1 66 8 5 3 0.38 intronic rs422381 ADAMTS1 AU NM_006988 exon8 c.5107+615T>C 0.689297 0.4494 Uncertain 21_28215826_-->ACA 21 28215826 28215826 - ACA indel 2930.73 0/1 99 82 28 54 0.66 intronic rs373460567 ADAMTS1 AU NM_006988 exon9 c.6646-717insACA 0.6411 0.3944 Uncertain 21_28215837_C->- 21 28215837 28215837 C - indel 1763.73 0/1 99 77 28 49 0.64 intronic rs3838077 ADAMTS1 AU NM_006988 exon9 c.6646-706delC 0.688898 0.4484 0.5834 0.3640 Uncertain 21_28215987_T->C 21 28215987 28215987 T C snp 743.77 0/1 99 63 31 32 0.51 intronic rs417301 ADAMTS1 AU NM_006988 exon9 c.6646-556T>C 0.689297 0.4484 Uncertain 21_28216038_C->A 21 28216038 28216038 C A snp 661.77 0/1 99 69 40 29 0.42 intronic rs422803 ADAMTS1 AU NM_006988 exon9 c.6646-505C>A 0.688099 0.4464 0.6963 0.4254 Uncertain 21_28216059_A->G 21 28216059 28216059 A G snp 624.77 0/1 99 66 38 28 0.42 intronic rs400852 ADAMTS1 AU NM_006988 exon9 c.6646-484A>G 0.23762 0.2827 0.216159 0.2332 0.2680 0.000 P Uncertain 21_28216066_C->T 21 28216066 28216066 C T snp 642.77 0/1 99 65 37 28 0.43 intronic rs370850 ADAMTS1 AU NM_006988 exon9 c.6646-477C>T 0.688099 0.4464 0.797236 0.7079 0.4508 0.19 T 0.000 P Uncertain 21_28216240_G->C 21 28216240 28216240 G C snp 229.77 0/1 99 24 12 12 0.5 intronic rs451792 ADAMTS1 AU NM_006988 exon9 c.6646-303G>C 0.689097 0.4474 Uncertain 21_28216299_T->C 21 28216299 28216299 T C snp 31.77 0/1 60 10 8 2 0.2 intronic rs428616 ADAMTS1 AU NM_006988 exon9 c.6646-244T>C 0.688898 0.4484 Uncertain 21_28216445_A->C 21 28216445 28216445 A C snp 181.77 0/1 99 19 11 8 0.42 intronic rs408358 ADAMTS1 AU NM_006988 exon9 c.6646-98A>C 0.688898 0.4484 Uncertain 21_28216595_C->G 21 28216595 28216595 C G snp 904.77 0/1 99 91 50 41 0.45 exonic rs428785 ADAMTS1 AU nonsynonymous SNV NM_006988 exon1 c.G679C p.A227P 0.689097 0.4484 0.810132 0.7246 0.4451 0.26 T 0.0 P -1.037 T 0.0 T 0.001 T Pathogenic 21_28216674_G->C 21 28216674 28216674 G C snp 1599.77 0/1 99 142 77 65 0.46 exonic rs409630 ADAMTS1 AU synonymous SNV NM_006988 exon1 c.C600G p.V200V 0.176717 0.2847 0.157228 0.2280 0.3141 Uncertain 21_28216692_G->T 21 28216692 28216692 G T snp 1663.77 0/1 99 140 69 71 0.51 exonic rs445784 ADAMTS1 AU synonymous SNV NM_006988 exon1 c.C582A p.V194V 0.678115 0.4484 0.831196 0.7327 0.4821 Uncertain 21_28217178_T->G 21 28217178 28217178 T G snp 996.77 0/1 99 104 61 43 0.41 exonic rs434857 ADAMTS1 AU synonymous SNV NM_006988 exon1 c.A96C p.P32P 0.688898 0.4484 0.822273 0.7284 0.4966 Uncertain 21_28217320_C->G 21 28217320 28217320 C G snp 830.77 0/1 99 63 29 34 0.54 UTR5 rs402007 ADAMTS1 AU 0.688498 0.4484 0.828525 0.7008 0.4210 Uncertain 21_28296324_A->G 21 28296324 28296324 A G snp 884.77 0/1 99 85 50 35 0.41 UTR3 rs151065 ADAMTS5 AU 0.784744 0.4772 0.913040 0.8294 0.4505 Uncertain 21_28302355_A->G 21 28302355 28302355 A G snp 486.77 0/1 99 56 35 21 0.38 exonic rs226794 ADAMTS5 AU nonsynonymous SNV NM_007038 exon7 c.T2075C p.L692P 0.809704 0.498 0.914732 0.8402 0.4667 1 T 0.999 P -0.936 T 0.0 T 0.0 T Pathogenic 21_28302558_T->G 21 28302558 28302558 T G snp 54.74 1/1 6 2 0 2 1.0 intronic rs7281968 ADAMTS5 AU NM_007038 exon2 c.6009+178T>G 0.310304 0.2768 Uncertain 21_28307173_C->T 21 28307173 28307173 C T snp 43.77 0/1 72 4 2 2 0.5 intronic rs162495 ADAMTS5 AU NM_007038 exon5 c.10697+105C>T 0.52476 0.3552 Uncertain 21_28326276_G->A 21 28326276 28326276 G A snp 886.77 1/1 63 35 0 35 1.0 intronic rs233894 ADAMTS5 AU NM_007038 exon7 c.30686-781G>A 0.882987 0.876 0.875 . Uncertain 21_30250555_T->C 21 30250555 30250555 T C snp 1838.77 1/1 99 65 0 65 1.0 exonic rs2205446 N6AMT1 AU nonsynonymous SNV NM_182749 exon4 c.A413G p.K138R 1 1 1 1 0.86 T 0.000 P -0.968 T 0.001 T 0.002 T Pathogenic 21_30250615_T->C 21 30250615 30250615 T C snp 2578.77 1/1 99 96 0 96 1.0 exonic rs2205447 N6AMT1 AU nonsynonymous SNV NM_182749 exon4 c.A353G p.K118R 1 1 1 1 0.45 T 0.0 P -0.953 T 0.0 T 0.005 T Pathogenic 21_30250812_T->C 21 30250812 30250812 T C snp 387.77 1/1 30 11 0 11 1.0 intronic rs2205448 N6AMT1 AU NM_013240 exon2 c.1949+157T>C 1 1 Uncertain 21_30252088_T->A 21 30252088 30252088 T A snp 62.74 1/1 6 4 0 4 1.0 intronic rs2205449 N6AMT1 AU NM_013240 exon3 c.3485-103T>A 0.379593 0.252 Uncertain 21_30254628_C->T 21 30254628 30254628 C T snp 488.77 0/1 99 74 49 25 0.34 intronic rs2293996 N6AMT1 AU NM_013240 exon4 c.5866+56C>T 0.0217652 0.0754 0.007446 Uncertain 21_30254695_C->T 21 30254695 30254695 C T snp 724.77 1/1 54 26 0 26 1.0 intronic rs2254507 N6AMT1 AU NM_013240 exon4 c.5866+123C>T 0.7498 0.5317 Uncertain 21_30257418_G->A 21 30257418 30257418 G A snp 1167.77 1/1 84 35 0 35 1.0 intronic rs1997605 N6AMT1 AU NM_013240 exon6 c.8827-115G>A 0.742612 0.5317 Uncertain 21_30257560_C->G 21 30257560 30257560 C G snp 5770.77 1/1 99 220 0 220 1.0 exonic rs1997606 N6AMT1 AU synonymous SNV NM_013240 exon1 c.G108C p.L36L 0.783147 0.5317 0.866934 0.8395 0.5116 Uncertain 21_30257568_T->C 21 30257568 30257568 T C snp 6286.77 1/1 99 238 0 238 1.0 exonic rs1997607 N6AMT1 AU nonsynonymous SNV NM_013240 exon1 c.A100G p.N34D 1 1 0.9999 1 1 T 0.000 P -0.969 T 0.0 T 0.0 T Pathogenic 21_30257729_A->G 21 30257729 30257729 A G snp 1357.77 1/1 99 40 0 40 1.0 upstream rs2859734 N6AMT1 AU 0.75 0.5317 Uncertain 21_30303389_GT->- 21 30303389 30303390 GT - indel 221.73 0/1 99 21 12 9 0.43 intronic rs10608923 LTN1 AU NM_015565 exon2 c.707-87_707-86delGT Uncertain 21_30318466_T->G 21 30318466 30318466 T G snp 760.77 0/1 99 80 47 33 0.41 intronic rs2243552 LTN1 AU NM_015565 exon11 c.15704-7T>G 0.407748 0.7123 0.290621 0.2825 0.7031 Uncertain 21_30324644_T->G 21 30324644 30324644 T G snp 641.77 0/1 99 60 30 30 0.5 intronic rs2832145 LTN1 AU NM_015565 exon13 c.21817+58T>G 0.198882 0.121 Uncertain 21_30324755_G->A 21 30324755 30324755 G A snp 224.84 1/1 18 6 0 6 1.0 intronic rs2832146 LTN1 AU NM_015565 exon13 c.21817+169G>A 0.840256 0.8333 Uncertain 21_30325875_A->T 21 30325875 30325875 A T snp 68.77 0/1 97 8 5 3 0.38 intronic rs2243491 LTN1 AU NM_015565 exon14 c.22929+177A>T 0.722444 0.7768 Uncertain 21_30338293_-->C 21 30338293 30338293 - C indel 2323.73 1/1 99 52 0 52 1.0 intronic rs5843357 LTN1 AU NM_015565 exon20 c.35459+65insC 1 1 0.999085 Uncertain 21_30339120_C->A 21 30339120 30339120 C A snp 894.77 0/1 99 81 42 39 0.48 exonic rs34191159 LTN1 AU nonsynonymous SNV NM_015565 exon10 c.G1831T p.G611C 0.19369 0.3849 0.136322 0.1722 0.3828 0.1 T 0.0 P -0.909 T 0.997 D 0.781 D Pathogenic 21_30339234_T->C 21 30339234 30339234 T C snp 2266.77 0/1 99 182 84 98 0.54 exonic rs61735768 LTN1 AU nonsynonymous SNV NM_015565 exon10 c.A1717G p.S573G 0.153554 0.3839 0.096571 0.1332 0.3829 0.03 T 0.0 P -0.954 T 0.0 T 0.001 T Pathogenic 21_30341594_T->C 21 30341594 30341594 T C snp 34.77 0/1 63 5 3 2 0.4 intronic rs74809108 LTN1 AU NM_015565 exon22 c.39018-193T>C 0.0197684 0.0903 Uncertain 21_30341891_A->G 21 30341891 30341891 A G snp 1304.77 1/1 93 49 0 49 1.0 exonic rs2254796 LTN1 AU nonsynonymous SNV NM_015565 exon9 c.T1346C p.L449S 0.71865 0.8333 0.640341 0.5918 0.8207 1 T 0.000 P -0.962 T 0.0 T 0.0 T Pathogenic 21_30354610_T->C 21 30354610 30354610 T C snp 949.77 0/1 99 82 41 41 0.5 intronic rs2832150 LTN1 AU NM_015565 exon26 c.51868-27T>C 0.153355 0.3829 0.096648 0.1332 0.3824 Uncertain 21_30357307_C->T 21 30357307 30357307 C T snp 588.77 1/1 45 17 0 17 1.0 intronic rs2245434 LTN1 AU NM_015565 exon27 c.54474+64C>T 0.870008 0.6925 Uncertain 21_30365322_G->A 21 30365322 30365322 G A snp 539.77 0/1 99 45 25 20 0.44 upstream rs2249028 LTN1 AU 0.302516 0.1905 Uncertain 21_30378938_G->A 21 30378938 30378938 G A snp 1050.77 0/1 99 83 41 42 0.51 exonic rs77085757 RWDD2B AU nonsynonymous SNV NM_016940 exon5 c.C760T p.R254C 0.0123802 0.0605 0.000846 0.0051 0.0629 0.02 T 1.000 D -0.574 T 0.991 D 0.82 D Pathogenic 21_30391672_AAA->- 21 30391672 30391674 AAA - indel 284.75 1/1 24 14 0 14 1.0 UTR5 rs138840391 RWDD2B AU 0.873403 0.7034 Uncertain 21_30400110_G->A 21 30400110 30400110 G A snp 176.77 0/1 99 17 11 6 0.35 intronic rs8133768 USP16 AU 0.605631 0.4593 Uncertain 21_30414724_C->T 21 30414724 30414724 C T snp 982.77 0/1 99 83 41 42 0.51 intronic rs2254872 USP16 AU NM_006447 exon12 c.14558-68C>T 0.294529 0.1875 0.367879 Uncertain 21_30422543_A->G 21 30422543 30422543 A G snp 578.77 0/1 99 42 17 25 0.6 intronic rs116927602 USP16 AU NM_006447 exon16 c.22265+44A>G 0.00159744 0.005 0.000462 0.0021 0.0156 Uncertain 21_30442475_T->C 21 30442475 30442475 T C snp 116.77 0/1 62 6 2 4 0.67 intronic rs2183569 CCT8 AU NM_006585 exon14 c.13772-92T>C 0.823482 0.6319 Uncertain 21_30442481_C->T 21 30442481 30442481 C T snp 218.84 1/1 18 6 0 6 1.0 intronic rs2183570 CCT8 AU NM_006585 exon14 c.13772-86C>T 0.874401 0.7143 Uncertain 21_30445961_G->A 21 30445961 30445961 G A snp 1269.77 0/1 99 105 53 52 0.5 UTR5 rs2012645 CCT8 AU 0.301717 0.1895 0.375211 0.4340 0.2233 Uncertain 21_30464866_A->G 21 30464866 30464866 A G snp 1626.77 0/1 99 133 65 68 0.51 exonic rs3746843 MAP3K7CL AU nonsynonymous SNV NM_001286634 exon5 c.A334G p.I112V 0.0183706 0.0813 0.002076 0.0069 0.0728 0 D 1 D -1.101 T 0.551 P 0.283 P Pathogenic 21_30481371_G->T 21 30481371 30481371 G T snp 1431.77 0/1 99 130 60 70 0.54 UTR5;UTR3 rs2832181 MAP3K7CL;MAP3K7CL UN 0.521166 0.6528 Uncertain 21_30481612_G->A 21 30481612 30481612 G A snp 286.77 0/1 99 31 18 13 0.42 UTR3 rs2832182 MAP3K7CL AU 0.527556 0.6538 Uncertain 21_30505836_T->C 21 30505836 30505836 T C snp 864.77 0/1 99 51 21 30 0.59 intronic rs9636820 MAP3K7CL AU NM_001286617 exon7 c.70+101T>C 0.235423 0.4028 Uncertain 21_30532147_AA->- 21 30532147 30532148 AA - indel 191.73 0/1 99 35 26 9 0.26 intronic rs539048316 MAP3K7CL AU NM_001286617 exon9 c.26596-114_26596-113delAA 0.130391 0.1468 Uncertain 21_30699842_A->G 21 30699842 30699842 A G snp 154.77 0/1 99 9 3 6 0.67 intronic rs2239572 BACH1 AU NM_001186 exon3 c.6113+128A>G 0.0826677 0.0645 Uncertain 21_30830285_T->A 21 30830285 30830285 T A snp 110.77 0/1 99 9 5 4 0.44 intergenic rs76586804 BACH1-IT2 AU 0.028754 0.0565 0.0046 0.0833 Uncertain 21_30830393_T->G 21 30830393 30830393 T G snp 622.77 0/1 99 59 27 32 0.54 intergenic rs9981313 BACH1-IT2 AU 0.323682 0.4147 0.3957 0.3737 0.0 P Uncertain 21_30925854_T->- 21 30925854 30925854 T - indel 88.73 0/1 99 35 25 10 0.29 downstream rs112669361 GRIK1 AU 0.4660 0.4793 Uncertain 21_30969901_T->C 21 30969901 30969901 T C snp 1518.77 1/1 99 57 0 57 1.0 ncRNA_exonic rs363431 GRIK1-AS2 AU 0.610823 0.6687 0.4603 0.6255 0.0 P -1.043 T Uncertain 21_31002803_G->T 21 31002803 31002803 G T snp 569.77 0/1 99 69 43 26 0.38 ncRNA_intronic rs7282163 GRIK1-AS2 AU 0.246805 0.3036 Uncertain 21_31026967_-->AAAG 21 31026967 31026967 - AAAG indel 366.73 0/1 99 32 24 8 0.25 intronic rs10637196 GRIK1 AU NM_000830 exon13 c.101254-162insAAAG 0.473243 0.5446 Uncertain 21_31045511_T->C 21 31045511 31045511 T C snp 527.77 0/1 99 26 8 18 0.69 intronic rs363513 GRIK1 AU NM_000830 exon14 c.119609+27T>C 0.188299 0.1875 0.144933 0.0828 0.2131 Uncertain 21_31061865_A->G 21 31061865 31061865 A G snp 297.78 1/1 24 8 0 8 1.0 intronic rs363511 GRIK1 AU NM_000830 exon15 c.136172-182A>G 0.300319 0.3532 Uncertain 21_31062070_T->G 21 31062070 31062070 T G snp 6245.77 1/1 99 228 0 228 1.0 exonic rs363538 GRIK1 AU synonymous SNV NM_000830 exon3 c.A522C p.T174T 0.340256 0.3393 0.269107 0.1978 0.3230 Uncertain 21_31066097_C->T 21 31066097 31066097 C T snp 101.77 0/1 99 13 9 4 0.31 intronic rs2070395 GRIK1 AU NM_000830 exon16 c.140339-117C>T 0.0786741 0.1756 Uncertain 21_31066474_C->T 21 31066474 31066474 C T snp 156.77 0/1 90 9 3 6 0.67 intronic rs9981962 GRIK1 AU NM_000830 exon16 c.140507+92C>T 0.0553115 0.0982 Uncertain 21_31233814_A->G 21 31233814 31233814 A G snp 167.9 1/1 15 5 0 5 1.0 intronic rs468206 GRIK1 AU NM_000830 exon17 c.385825-77886A>G 0.414936 0.4603 Uncertain 21_31233893_GGATT->- 21 31233893 31233897 GGATT - indel 2123.73 1/1 87 29 0 29 1.0 intronic GRIK1 AU NM_000830 exon17 c.385825-77807_385825-77803delGGATT Uncertain 21_31233898_-->ACCAACACT 21 31233898 31233898 - ACCAACACT indel 3270.73 1/1 87 29 0 29 1.0 intronic GRIK1 AU NM_000830 exon17 c.385825-77802insACCAACACT Uncertain 21_31233900_A->G 21 31233900 31233900 A G snp 1044.77 1/1 78 29 0 29 1.0 intronic rs55707309 GRIK1 AU NM_000830 exon17 c.385825-77800A>G 0.414137 0.4593 Uncertain 21_31233904_-->T 21 31233904 31233904 - T indel 1192.73 1/1 87 29 0 29 1.0 intronic rs142587327 GRIK1 AU NM_000830 exon17 c.385825-77796insT 0.414137 0.4593 Uncertain 21_31233994_T->C 21 31233994 31233994 T C snp 2365.77 1/1 99 93 0 93 1.0 intronic rs468413 GRIK1 AU NM_000830 exon17 c.385825-77706T>C 0.415136 0.4603 0.4007 0.5417 Uncertain 21_31587793_A->G 21 31587793 31587793 A G snp 1843.77 0/1 99 123 57 66 0.54 exonic rs686364 CLDN8 AU nonsynonymous SNV NM_199328 exon1 c.T451C p.S151P 0.41873 0.4484 0.384284 0.2974 0.4505 1 T 0.001 P -0.903 T 0.0 T 0.0 T Pathogenic 21_31655212_A->C 21 31655212 31655212 A C snp 2115.77 1/1 99 75 0 75 1.0 exonic rs1557291 KRTAP24-1 AU synonymous SNV NM_001085455 exon1 c.T39G p.G13G 1 1 1 1 Uncertain 21_31661691_A->G 21 31661691 31661691 A G snp 2040.77 0/1 99 222 128 94 0.42 exonic rs8127420 KRTAP25-1 AU nonsynonymous SNV NM_001128598 exon1 c.T118C p.S40P 0.517372 0.5853 0.386115 0.4036 0.6266 0 D 0.0 P -1.015 T 0.243 T 0.145 T Pathogenic 21_31691571_C->A 21 31691571 31691571 C A snp 347.78 1/1 27 9 0 9 1.0 UTR3 rs2236427 KRTAP26-1 AU 0.307308 0.5198 Uncertain 21_31720287_A->G 21 31720287 31720287 A G snp 1083.77 1/1 78 37 0 37 1.0 downstream rs762377 KRTAP23-1 AU 0.866414 0.8681 Uncertain 21_31768539_G->C 21 31768539 31768539 G C snp 2016.77 0/1 99 166 84 82 0.49 exonic rs9636833 KRTAP13-1 AU synonymous SNV NM_181599 exon1 c.G135C p.T45T 0.186302 0.4256 0.122636 0.1314 0.4026 Uncertain 21_31864307_T->G 21 31864307 31864307 T G snp 1569.77 0/1 99 184 113 71 0.39 upstream rs2298436 KRTAP19-3 AU 0.108626 0.252 0.056128 0.0936 0.2448 Uncertain 21_31913982_G->- 21 31913982 31913982 G - indel 4200.73 0/1 99 250 140 110 0.44 exonic;splicing rs5843453 KRTAP19-6;KRTAP19-6 UN frameshift deletion NM_181612 exon1 c.171delC p.F57fs 0.787141 0.7034 0.765415 0.7273 0.7063 ID=COSM1413647;OCCURENCE=3(large_intestine) Pathogenic 21_31914000_T->A 21 31914000 31914000 T A snp 2756.77 0/1 99 248 132 116 0.47 exonic rs1023364 KRTAP19-6 AU synonymous SNV NM_001303120 exon1 c.A153T p.G51G 0.747804 0.7024 0.734353 0.7156 0.7062 Uncertain 21_31933726_G->A 21 31933726 31933726 G A snp 1118.77 0/1 99 90 44 46 0.51 upstream rs1702401 KRTAP19-7 AU 0.214457 0.3036 Uncertain 21_31973342_C->G 21 31973342 31973342 C G snp 131.77 0/1 99 19 12 7 0.37 upstream rs198913 KRTAP22-1 AU 0.21226 0.2986 Uncertain 21_31973405_C->T 21 31973405 31973405 C T snp 900.77 0/1 99 75 38 37 0.49 upstream rs198914 KRTAP22-1 AU 0.21226 0.2986 0.230893 0.2742 0.2987 Uncertain 21_31973516_T->A 21 31973516 31973516 T A snp 1185.77 0/1 99 117 58 59 0.5 exonic rs198915 KRTAP22-1 AU nonsynonymous SNV NM_181620 exon1 c.T77A p.L26H 0.839856 0.6022 0.889974 0.8862 0.6281 0 D 0.0 P -1.065 T 0.0 T 0.0 T Pathogenic 21_31992864_A->G 21 31992864 31992864 A G snp 503.77 0/1 99 43 23 20 0.47 upstream rs1702405 KRTAP20-4 AU 0.760184 0.4583 Uncertain 21_32007466_G->A 21 32007466 32007466 G A snp 422.77 0/1 99 42 26 16 0.38 upstream rs72613606 KRTAP20-2 AU 0.194888 0.5407 Uncertain 21_32015170_T->C 21 32015170 32015170 T C snp 812.77 0/1 99 64 32 32 0.5 upstream rs198873 KRTAP20-3 AU 0.167332 0.1597 0.227332 0.2523 0.1330 Uncertain 21_32090837_A->T 21 32090837 32090837 A T snp 156.84 0/1 18 6 1 5 0.83 downstream rs2833030 KRTAP21-3 AU 0.277157 0.4792 Uncertain 21_32090908_C->T 21 32090908 32090908 C T snp 455.77 0/1 99 34 16 18 0.53 exonic rs2833031 KRTAP21-3 AU nonsynonymous SNV NM_001164435 exon1 c.G170A p.C57Y 0.277157 0.4792 0.162943 0.1454 0.4967 0 D 0.0 P -0.919 T Pathogenic 21_32185327_A->G 21 32185327 32185327 A G snp 869.77 0/1 99 99 63 36 0.36 UTR3 rs7278128 KRTAP8-1 AU 0.161941 0.2857 0.103644 0.0619 0.2947 Uncertain 21_32201822_G->T 21 32201822 32201822 G T snp 1360.77 0/1 99 154 94 60 0.39 exonic rs9982910 KRTAP7-1 AU synonymous SNV NM_181606 exon2 c.C195A p.G65G 0.490815 0.4405 0.430793 0.4606 0.4968 Uncertain 21_32201835_A->C 21 32201835 32201835 A C snp 1393.77 0/1 99 161 98 63 0.39 exonic rs9982675 KRTAP7-1 AU nonsynonymous SNV NM_181606 exon2 c.T182G p.I61S 0.491813 0.4454 0.4607 0.4968 Pathogenic 21_32201866_A->G 21 32201866 32201866 A G snp 1539.77 0/1 99 169 101 68 0.4 exonic rs9982755 KRTAP7-1 AU nonsynonymous SNV NM_181606 exon2 c.T151C p.S51P 0.510583 0.4454 0.4982 0.4968 Pathogenic 21_32201951_A->G 21 32201951 32201951 A G snp 1324.77 0/1 99 123 65 58 0.47 exonic rs9982775 KRTAP7-1 AU synonymous SNV NM_181606 exon2 c.T66C p.H22H 0.510583 0.4454 0.472624 0.4981 0.4968 Uncertain 21_32201970_A->- 21 32201970 32201970 A - indel 4448.73 1/1 99 112 0 112 1.0 splicing rs35359062 KRTAP7-1 AU NM_181606 exon2 c.218delA 1 1 0.999436 1 1 Pathogenic 21_32202106_T->A 21 32202106 32202106 T A snp 291.77 0/1 99 22 12 10 0.45 upstream rs2833118 KRTAP7-1 AU 0.491813 0.4454 Uncertain 21_32253513_A->T 21 32253513 32253513 A T snp 1839.77 0/1 99 167 92 75 0.45 exonic rs9636845 KRTAP11-1 AU nonsynonymous SNV NM_175858 exon1 c.T331A p.C111S 0.17492 0.4663 0.067507 0.1356 0.4624 0.08 T 0.998 P -0.877 T 1.0 D 0.999 D Pathogenic 21_32361722_C->T 21 32361722 32361722 C T snp 359.77 0/1 88 15 3 12 0.8 intergenic rs78885559 KRTAP11-1 AU 0.0289537 0.0962 Uncertain 21_32362017_A->C 21 32362017 32362017 A C snp 125.78 0/1 27 5 1 4 0.8 intergenic rs2027599 KRTAP11-1 AU 0.0836661 0.124 Uncertain 21_32410619_A->G 21 32410619 32410619 A G snp 2127.77 0/1 99 151 61 90 0.6 exonic rs2833198 KRTAP19-8 AU synonymous SNV NM_001099219 exon1 c.T144C p.C48C 0.237021 0.1339 0.171844 0.1242 0.1393 Uncertain 21_32434766_C->T 21 32434766 32434766 C T snp 323.77 0/1 99 21 9 12 0.57 intergenic rs2070405 KRTAP19-8 AU 0.561901 0.38 Uncertain 21_32434839_C->T 21 32434839 32434839 C T snp 799.77 0/1 99 52 26 26 0.5 intergenic rs2070406 KRTAP19-8 AU 0.14976 0.5873 Uncertain 21_32490732_CAGA->- 21 32490732 32490735 CAGA - indel 371.73 0/1 99 17 10 7 0.41 downstream rs138707322 TIAM1 AU 0.0391374 0.0923 Uncertain 21_32493031_A->G 21 32493031 32493031 A G snp 5261.77 1/1 99 181 0 181 1.0 exonic rs762194 TIAM1 AU synonymous SNV NM_003253 exon29 c.T4431C p.G1477G 0.535343 0.7639 0.479625 0.5033 0.7659 Uncertain 21_32493204_G->A 21 32493204 32493204 G A snp 248.77 0/1 99 32 22 10 0.31 intronic rs2073371 TIAM1 AU NM_003253 exon1 c.470+49G>A 0.394768 0.6161 0.313031 0.4458 0.6179 Uncertain 21_32499473_A->G 21 32499473 32499473 A G snp 943.77 0/1 99 98 58 40 0.41 splicing rs2070410 TIAM1 AU NM_003253 exon3 c.6785+3A>G 0.599042 0.6081 0.557127 0.5407 0.6126 Pathogenic 21_32499577_A->G 21 32499577 32499577 A G snp 286.77 0/1 99 21 12 9 0.43 intronic rs2833286 TIAM1 AU NM_003253 exon3 c.6785+107A>G 0.077476 0.1071 Uncertain 21_32502414_G->A 21 32502414 32502414 G A snp 182.77 0/1 94 10 3 7 0.7 intronic rs2070413 TIAM1 AU NM_003253 exon4 c.9845-116G>A 0.224441 0.2758 Uncertain 21_32502764_T->C 21 32502764 32502764 T C snp 194.77 0/1 99 11 4 7 0.64 intronic rs56339310 TIAM1 AU NM_003253 exon4 c.9948+131T>C 0.0557109 0.1101 Uncertain 21_32503342_A->G 21 32503342 32503342 A G snp 1225.77 0/1 99 116 62 54 0.47 intronic rs2833289 TIAM1 AU NM_003253 exon5 c.10581+76A>G 0.0557109 0.1101 Uncertain 21_32524852_A->G 21 32524852 32524852 A G snp 801.77 0/1 99 73 41 32 0.44 intronic rs9305453 TIAM1 AU NM_003253 exon10 c.32268-101A>G 0.878195 0.7768 Uncertain 21_32526758_G->T 21 32526758 32526758 G T snp 672.77 0/1 99 52 28 24 0.46 intronic rs78007898 TIAM1 AU NM_003253 exon12 c.34059+14G>T 0.095647 0.2361 0.073505 0.0996 0.2246 Uncertain 21_32575405_C->T 21 32575405 32575405 C T snp 325.77 0/1 99 38 27 11 0.29 intronic rs2833335 TIAM1 AU NM_003253 exon17 c.82643+77C>T 0.303115 0.3968 Uncertain 21_32585809_C->T 21 32585809 32585809 C T snp 2043.77 0/1 99 156 68 88 0.56 intronic rs2244187 TIAM1 AU NM_003253 exon19 c.93103+21C>T 0.315495 0.3978 0.219207 0.1713 0.4057 Uncertain 21_32598003_A->T 21 32598003 32598003 A T snp 839.77 0/1 99 64 33 31 0.48 intronic rs2070416 TIAM1 AU NM_003253 exon22 c.105356-38A>T 0.165935 0.3899 0.062817 0.1239 0.4068 Uncertain 21_32638549_C->A 21 32638549 32638549 C A snp 2650.77 0/1 99 247 140 107 0.43 exonic rs2070417 TIAM1 AU nonsynonymous SNV NM_003253 exon5 c.G740T p.G247V 0.213458 0.4107 0.065816 0.1705 0.4266 0.07 T 1.000 P -0.985 T 0.275 T 0.118 T Pathogenic 21_32638550_C->T 21 32638550 32638550 C T snp 2777.77 0/1 99 250 140 110 0.44 exonic rs2070418 TIAM1 AU nonsynonymous SNV NM_003253 exon5 c.G739A p.G247R 0.213458 0.4107 0.067507 0.1706 0.4265 0.13 T 0.988 P -0.947 T 0.882 T 0.19 P Pathogenic 21_32931422_C->G 21 32931422 32931422 C G snp 90.28 1/1 9 3 0 3 1.0 upstream rs9983409 TIAM1 AU 0.626398 0.8294 Uncertain 21_33036391_T->G 21 33036391 33036391 T G snp 35.77 0/1 64 4 2 2 0.5 intronic rs10432782 SOD1 AR,AD NM_000454 exon2 c.4117+192T>G 0.294928 0.5179 Uncertain 21_33039775_A->- 21 33039775 33039775 A - indel 306.73 0/1 99 24 11 13 0.54 intronic rs3216079 SOD1 AR,AD NM_000454 exon4 c.7606+87delA 0.245008 0.5129 Uncertain 21_33063354_C->T 21 33063354 33063354 C T snp 583.77 0/1 99 36 16 20 0.56 intronic rs2070423 SCAF4 AU NM_001145445 exon6 c.19555+88C>T 0.242812 0.497 Uncertain 21_33068962_T->C 21 33068962 33068962 T C snp 302.77 0/1 99 23 10 13 0.57 exonic rs7280330 SCAF4 AU synonymous SNV NM_001145444 exon7 c.A834G p.A278A 0.14397 0.0784 0.183069 0.1734 0.0539 Uncertain 21_33073985_T->C 21 33073985 33073985 T C snp 1058.77 1/1 78 34 0 34 1.0 intronic rs204734 SCAF4 AU NM_001145445 exon15 c.30377-103T>C 1 1 Uncertain 21_33081949_C->A 21 33081949 33081949 C A snp 78.77 0/1 69 5 2 3 0.6 intronic SCAF4 AU NM_001145445 exon19 c.34959+3279C>A Uncertain 21_33245977_-->G 21 33245977 33245977 - G indel 206.8 1/1 18 6 0 6 1.0 UTR5 rs200658316 HUNK AU 1 1 0.996390 1 . Uncertain 21_33355760_G->A 21 33355760 33355760 G A snp 323.77 0/1 96 18 5 13 0.72 intronic rs737103 HUNK AU NM_014586 exon8 c.109851-78G>A 0.365216 0.4464 Uncertain 21_33368188_T->C 21 33368188 33368188 T C snp 4441.77 1/1 99 170 0 170 1.0 exonic rs2070371 HUNK AU synonymous SNV NM_014586 exon10 c.T1413C p.L471L 0.703075 0.6726 0.742965 0.7357 0.6781 Uncertain 21_33370900_T->C 21 33370900 33370900 T C snp 7565.77 1/1 99 250 0 250 1.0 exonic rs9305483 HUNK AU synonymous SNV NM_014586 exon11 c.T1548C p.S516S 0.634784 0.6488 0.618176 0.6309 0.6601 Uncertain 21_33371123_C->T 21 33371123 33371123 C T snp 3310.77 0/1 99 250 128 122 0.49 exonic rs10775648 HUNK AU nonsynonymous SNV NM_014586 exon11 c.C1771T p.R591C 0.209864 0.2897 0.177687 0.2296 0.3100 0.03 T 0.0 P -1.043 T 0.991 D 0.549 D Pathogenic 21_33371540_T->G 21 33371540 33371540 T G snp 2074.77 1/1 99 73 0 73 1.0 UTR3 rs2070372 HUNK AU 0.676118 0.6667 0.726338 0.7311 0.6840 Uncertain 21_33678976_G->T 21 33678976 33678976 G T snp 1172.77 0/1 99 95 47 48 0.51 exonic rs17855142 MRAP AR synonymous SNV NM_178817 exon4 c.G132T p.V44V 0.0313498 0.0833 0.004075 0.0144 0.0836 Uncertain 21_33684178_C->G 21 33684178 33684178 C G snp 3301.77 0/1 99 250 117 133 0.53 exonic rs17855143 MRAP AR synonymous SNV NM_178817 exon5 c.C390G p.T130T 0.0313498 0.0833 0.000846 0.0158 0.0856 ID=COSM3363415;OCCURENCE=1(kidney) Uncertain 21_33684415_A->G 21 33684415 33684415 A G snp 1203.77 0/1 99 104 59 45 0.43 UTR3 rs2833761 MRAP AR 0.223842 0.1181 Uncertain 21_33688865_A->G 21 33688865 33688865 A G snp 3200.06 0/1 99 250 120 130 0.52 exonic rs7279896 URB1 AU synonymous SNV NM_014825 exon38 c.T6546C p.A2182A 0.25 0.1369 0.248576 0.1769 0.1371 Uncertain 21_33689471_C->T 21 33689471 33689471 C T snp 464.77 0/1 99 33 17 16 0.48 intronic rs75439593 URB1 AU NM_014825 exon2 c.2148+95C>T 0.0339457 0.0833 Uncertain 21_33690293_C->A 21 33690293 33690293 C A snp 52.77 0/1 81 13 9 4 0.31 intronic rs2070380 URB1 AU NM_014825 exon3 c.3000+65C>A 0.429712 0.4216 Uncertain 21_33691502_-->C 21 33691502 33691502 - C indel 1246.73 1/1 99 36 0 36 1.0 intronic rs11402028 URB1 AU NM_014825 exon4 c.4298-24insC 1 1 0.996063 0.9997 1 Uncertain 21_33691718_C->A 21 33691718 33691718 C A snp 712.77 0/1 99 93 59 34 0.37 exonic rs80329348 URB1 AU synonymous SNV NM_014825 exon36 c.G5601T p.L1867L 0.033147 0.0833 0.004599 0.0266 0.0776 Uncertain 21_33691754_G->A 21 33691754 33691754 G A snp 1228.77 0/1 99 71 25 46 0.65 intronic rs958828 URB1 AU NM_014825 exon4 c.4496+30G>A 0.440296 0.4216 0.553657 0.5959 0.4439 Uncertain 21_33694132_C->T 21 33694132 33694132 C T snp 1529.77 0/1 99 115 50 65 0.57 exonic rs3827177 URB1 AU synonymous SNV NM_014825 exon34 c.G5463A p.P1821P 0.0305511 0.0823 0.000657 0.0229 0.0773 Uncertain 21_33694224_C->G 21 33694224 33694224 C G snp 4816.77 1/1 99 174 0 174 1.0 exonic rs3761342 URB1 AU nonsynonymous SNV NM_014825 exon34 c.G5371C p.V1791L 0.898762 0.7292 0.940429 0.9316 0.7663 1 T 0.0 P -0.904 T 0.0 T 0.002 T Pathogenic 21_33694257_A->T 21 33694257 33694257 A T snp 1871.77 0/1 99 157 81 76 0.48 splicing rs2833765 URB1 AU NM_014825 exon6 c.7026+3A>T 0.162141 0.119 0.164696 0.1470 0.1429 Pathogenic 21_33697000_G->A 21 33697000 33697000 G A snp 342.77 0/1 99 25 12 13 0.52 intronic rs2070377 URB1 AU NM_014825 exon8 c.9684+88G>A 0.20028 0.119 Uncertain 21_33705734_A->G 21 33705734 33705734 A G snp 531.77 0/1 99 85 61 24 0.28 splicing rs77588974 URB1 AU NM_014825 exon10 c.18500+6A>G 0.033147 0.0823 0.003942 0.0239 0.0756 Pathogenic 21_33709347_G->A 21 33709347 33709347 G A snp 1866.77 0/1 99 158 80 78 0.49 intronic rs79004989 URB1 AU NM_014825 exon12 c.22174-55G>A 0.0333466 0.0823 0.004380 Uncertain 21_33711229_G->C 21 33711229 33711229 G C snp 857.77 0/1 99 71 36 35 0.49 intronic rs9978210 URB1 AU NM_014825 exon14 c.23981+20G>C 0.167133 0.1379 0.1505 0.1519 Uncertain 21_33713885_T->C 21 33713885 33713885 T C snp 1518.77 0/1 99 117 51 66 0.56 intronic rs2833778 URB1 AU NM_014825 exon15 c.26605+52T>C 0.162939 0.119 0.165572 Uncertain 21_33717877_G->A 21 33717877 33717877 G A snp 664.77 0/1 99 62 33 29 0.47 exonic rs2833779 URB1 AU synonymous SNV NM_014825 exon23 c.C3876T p.S1292S 0.172923 0.1379 0.173018 0.1691 0.1520 Uncertain 21_33717960_C->T 21 33717960 33717960 C T snp 37.77 0/1 66 4 2 2 0.5 intronic rs78673078 URB1 AU NM_014825 exon17 c.30656+76C>T 0.033147 0.0823 Uncertain 21_33719343_C->G 21 33719343 33719343 C G snp 706.77 0/1 99 80 45 35 0.44 exonic rs77503870 URB1 AU nonsynonymous SNV NM_014825 exon22 c.G3790C p.D1264H 0.0333466 0.0823 0.004599 0.0256 0.0805 0.27 T 1 N -1.036 T 0.0 T 0.001 T Pathogenic 21_33719400_A->G 21 33719400 33719400 A G snp 794.77 0/1 99 71 41 30 0.42 exonic rs9981151 URB1 AU synonymous SNV NM_014825 exon22 c.T3733C p.L1245L 0.223243 0.1379 0.217915 0.1745 0.1593 Uncertain 21_33719695_C->T 21 33719695 33719695 C T snp 4056.77 1/1 99 150 0 150 1.0 exonic rs2070378 URB1 AU synonymous SNV NM_014825 exon22 c.G3438A p.K1146K 0.680911 0.5605 0.803110 0.7789 0.5955 Uncertain 21_33720276_C->A 21 33720276 33720276 C A snp 123.77 0/1 30 6 2 4 0.67 intronic rs28500645 URB1 AU NM_014825 exon18 c.32892+156C>A 0.174321 0.119 Uncertain 21_33721427_A->G 21 33721427 33721427 A G snp 168.9 1/1 15 6 0 6 1.0 intronic rs2015981 URB1 AU NM_014825 exon19 c.34384-185A>G 0.999601 0.998 Uncertain 21_33721455_T->C 21 33721455 33721455 T C snp 512.77 0/1 99 24 9 15 0.63 intronic rs73903307 URB1 AU NM_014825 exon19 c.34384-157T>C 0.182907 0.1379 Uncertain 21_33721843_T->C 21 33721843 33721843 T C snp 907.77 1/1 66 28 0 28 1.0 intronic rs743306 URB1 AU NM_014825 exon19 c.34564+51T>C 0.684305 0.5605 0.813489 Uncertain 21_33724953_A->G 21 33724953 33724953 A G snp 68.77 0/1 97 8 5 3 0.38 intronic rs76595678 URB1 AU NM_014825 exon21 c.37790-65A>G 0.033746 0.0823 Uncertain 21_33726201_C->T 21 33726201 33726201 C T snp 726.77 0/1 99 45 17 28 0.62 intronic rs2298363 URB1 AU NM_014825 exon22 c.39013-40C>T 0.540335 0.4385 0.659220 0.6484 0.4529 Uncertain 21_33730013_T->C 21 33730013 33730013 T C snp 46.77 0/1 73 6 3 3 0.5 intronic rs7283283 URB1 AU NM_014825 exon25 c.42737+48T>C 0.441893 0.4147 0.6787 0.5408 Uncertain 21_33740637_G->A 21 33740637 33740637 G A snp 719.77 1/1 54 20 0 20 1.0 intronic rs7276783 URB1 AU NM_014825 exon31 c.53483-74G>A 0.904952 0.7212 Uncertain 21_33749533_A->C 21 33749533 33749533 A C snp 3293.77 1/1 99 105 0 105 1.0 ncRNA_exonic rs4816431 SNORA80A AU 0.891573 0.7242 0.936345 0.9098 0.7293 Uncertain 21_33755763_G->A 21 33755763 33755763 G A snp 964.77 0/1 99 107 62 45 0.42 exonic rs2833795 URB1 AU synonymous SNV NM_014825 exon4 c.C535T p.L179L 0.555112 0.5813 0.439553 0.3902 0.55 Uncertain 21_33785343_G->A 21 33785343 33785343 G A snp 2078.77 0/1 99 191 97 94 0.49 intronic rs76961987 EVA1C AU NM_058187 exon1 c.160+22G>A 0.188898 0.256 0.129042 0.2016 0.3430 Uncertain 21_33839992_T->G 21 33839992 33839992 T G snp 1314.77 0/1 99 116 59 57 0.49 intronic rs111977143 EVA1C AU NM_058187 exon4 c.54842-11T>G 0.170327 0.2252 0.140012 0.1888 0.2139 Uncertain 21_33840208_A->G 21 33840208 33840208 A G snp 521.77 1/1 39 15 0 15 1.0 intronic rs4816434 EVA1C AU NM_058187 exon4 c.54995+52A>G 0.445288 0.503 0.373519 0.5226 0.6427 Uncertain 21_33867280_A->G 21 33867280 33867280 A G snp 1775.77 1/1 99 57 0 57 1.0 intronic rs2096458 EVA1C AU NM_058187 exon5 c.82175-56A>G 0.446286 0.5367 Uncertain 21_33887131_G->A 21 33887131 33887131 G A snp 1170.77 1/1 87 36 0 36 1.0 exonic rs1129157 EVA1C AU synonymous SNV NM_001286556 exon8 c.G948A p.P316P 0.490815 0.631 0.370598 0.3894 0.6849 Uncertain 21_33964537_G->A 21 33964537 33964537 G A snp 286.77 0/1 99 41 27 14 0.34 intergenic rs7284048 TCP10L AU 0.130791 0.0913 0.0967 0.1354 Uncertain 21_33964605_T->C 21 33964605 33964605 T C snp 395.77 0/1 99 45 26 19 0.42 intergenic rs1783091 TCP10L AU 0.215855 0.0933 0.2232 0.1022 Uncertain 21_33964612_G->A 21 33964612 33964612 G A snp 362.77 0/1 99 44 25 19 0.43 intergenic rs7278762 TCP10L AU 0.141174 0.0913 0.1257 0.1 0 D 0.0 P -1.024 T Uncertain 21_33974322_G->A 21 33974322 33974322 G A snp 1991.77 0/1 99 153 76 77 0.5 intronic rs16989559 C21orf59 AR NM_021254 exon1 c.111+39G>A 0.130591 0.0903 0.133861 0.0905 0.0799 Uncertain 21_34003928_-->AGTATT 21 34003928 34003928 - AGTATT indel 8578.73 0/1 99 208 105 103 0.5 exonic rs57257560 SYNJ1 AR nonframeshift insertion NM_003895 exon32 c.4215_4216insAATACT p.L1406delinsNTL 0.571086 0.4712 0.561342 0.5120 0.4842 ID=COSM1413791,COSM1413790;OCCURENCE=1(liver),2(large_intestine) Uncertain 21_34014192_G->A 21 34014192 34014192 G A snp 832.77 0/1 99 84 45 39 0.46 intronic rs11702774 SYNJ1 AR NM_001160302 exon5 c.7032-13G>A 0.181709 0.3175 0.168384 0.2609 0.3832 Uncertain 21_34014283_C->A 21 34014283 34014283 C A snp 416.77 0/1 99 51 32 19 0.37 intronic rs2833929 SYNJ1 AR NM_001160302 exon5 c.7103+7C>A 0.291334 0.3254 0.286944 0.2885 0.3312 Uncertain 21_34017857_T->A 21 34017857 34017857 T A snp 166.77 0/1 99 11 3 8 0.73 intronic rs2406 SYNJ1 AR NM_001160302 exon8 c.10782-98T>A 0.574081 0.4673 Uncertain 21_34018437_C->T 21 34018437 34018437 C T snp 1170.77 0/1 99 85 37 48 0.56 intronic rs844978 SYNJ1 AR NM_001160302 exon9 c.11529-265C>T 0.566893 0.4683 Uncertain 21_34050938_AT->- 21 34050938 34050939 AT - indel 2034.73 0/1 99 92 36 56 0.61 intronic rs138729271 SYNJ1 AR NM_001160302 exon21 c.43781-16_43781-15delAT 0.283946 0.2063 0.461483 Uncertain 21_34050942_A->T 21 34050942 34050942 A T snp 1360.77 0/1 99 99 43 56 0.57 intronic rs75688000 SYNJ1 AR NM_001160302 exon21 c.43781-12A>T 0.0471246 0.0198 0.0006 0 Uncertain 21_34059207_C->T 21 34059207 34059207 C T snp 159.77 0/1 99 19 10 9 0.47 intronic rs844975 SYNJ1 AR NM_001160302 exon25 c.52114-80C>T 0.582668 0.4683 Uncertain 21_34059352_T->C 21 34059352 34059352 T C snp 227.77 0/1 99 48 34 14 0.29 exonic rs2254562 SYNJ1 AR nonsynonymous SNV NM_003895 exon8 c.A1001G p.K334R 0.304113 0.3284 0.297614 0.2934 0.3340 0.03 T 1.000 P -1.097 T 0.992 D 0.843 D Pathogenic 21_34098949_G->C 21 34098949 34098949 G C snp 140.77 0/1 99 13 8 5 0.38 intronic SYNJ1 AR NM_001160302 exon31 c.91909-133G>C Uncertain 21_34118149_G->A 21 34118149 34118149 G A snp 114.77 0/1 99 7 3 4 0.57 intronic rs7277961 PAXBP1 AU NM_016631 exon7 c.10769+120G>A 0.466254 0.4097 Uncertain 21_34128717_G->A 21 34128717 34128717 G A snp 852.77 0/1 99 66 31 35 0.53 intronic rs7279405 PAXBP1 AU NM_016631 exon11 c.20404+1053G>A 0.642572 0.4792 0.641858 0.5474 0.5010 Uncertain 21_34157236_T->- 21 34157236 34157236 T - indel 877.73 1/1 99 41 0 41 1.0 ncRNA_splicing C21orf62-AS1 AU 0.724241 0.9067 0.5799 0.7336 Uncertain 21_34157347_T->C 21 34157347 34157347 T C snp 301.78 1/1 24 8 0 8 1.0 ncRNA_intronic C21orf62-AS1 AU 0.73143 0.9157 Uncertain 21_34165864_C->A 21 34165864 34165864 C A snp 377.77 1/1 30 11 0 11 1.0 ncRNA_intronic C21orf62-AS1 AU 0.727436 0.9157 Uncertain 21_34166190_A->T 21 34166190 34166190 A T snp 4800.77 1/1 99 163 0 163 1.0 exonic C21orf62 AU nonsynonymous SNV NM_001162496 exon2 c.T543A p.F181L 1 1 1 1 1 T 1 N -0.975 T 0.0 T 0.0 T Pathogenic 21_34166343_C->T 21 34166343 34166343 C T snp 6852.77 1/1 99 250 0 250 1.0 exonic C21orf62 AU synonymous SNV NM_001162496 exon2 c.G390A p.E130E 0.727436 0.9157 0.712064 0.7602 0.9012 Uncertain 21_34169181_A->G 21 34169181 34169181 A G snp 1297.77 1/1 93 48 0 48 1.0 ncRNA_intronic C21orf62-AS1 AU 0.728235 0.9157 Uncertain 21_34169317_-->T 21 34169317 34169317 - T indel 4097.73 1/1 99 91 0 91 1.0 ncRNA_exonic C21orf62-AS1 AU 0.731829 0.9157 0.7502 0.8996 Uncertain 21_34223915_T->C 21 34223915 34223915 T C snp 40.77 0/1 33 3 1 2 0.67 intergenic rs2833981 C21orf62 AU 0.660144 0.4355 Uncertain 21_34223997_C->T 21 34223997 34223997 C T snp 678.77 0/1 99 42 20 22 0.52 intergenic rs12626270 C21orf62 AU 0.130391 0.3085 Uncertain 21_34400146_G->T 21 34400146 34400146 G T snp 124.77 0/1 99 10 4 6 0.6 UTR3 rs9982080 OLIG2 AU 0.108826 0.125 0.1951 0.2069 Uncertain 21_34538065_-->T 21 34538065 34538065 - T indel 2675.73 1/1 99 68 0 68 1.0 ncRNA_intronic rs11444667 LINC01548 AU 0.998203 0.999 Uncertain 21_34540594_-->T 21 34540594 34540594 - T indel 1278.73 1/1 93 31 0 31 1.0 ncRNA_intronic rs11379155 LINC01548 AU 1 1 Uncertain 21_34602934_T->C 21 34602934 34602934 T C snp 2587.77 0/1 99 235 121 114 0.49 intronic rs12482556 IFNAR2 AR,AU 0.397963 0.5774 Uncertain 21_34614255_T->G 21 34614255 34614255 T G snp 1387.77 0/1 99 114 58 56 0.49 exonic rs1051393 IFNAR2 AR,AU nonsynonymous SNV NM_207585 exon2 c.T28G p.F10V 0.391773 0.5754 0.273258 0.3785 0.5838 1 T 0.0 P -0.966 T 0.0 T 0.0 T ID=CM057711;DIS=Multiple sclerosis, susceptibility to, association with;TAG=DP;PUB=15885318 DP Pathogenic 21_34617213_T->C 21 34617213 34617213 T C snp 1842.77 0/1 99 145 70 75 0.52 intronic rs2834158 IFNAR2 AR,AU NM_001289126 exon4 c.3028-42T>C 0.608826 0.4256 0.726895 0.6218 0.4167 Uncertain 21_34617729_A->G 21 34617729 34617729 A G snp 631.77 0/1 99 63 32 31 0.49 intronic rs2252639 IFNAR2 AR,AU NM_001289126 exon4 c.3152+350A>G 0.589657 0.4246 Uncertain 21_34617950_A->T 21 34617950 34617950 A T snp 85.77 0/1 63 6 2 4 0.67 intronic rs2252650 IFNAR2 AR,AU NM_001289126 exon4 c.3152+571A>T 0.590256 0.4246 Uncertain 21_34619341_C->T 21 34619341 34619341 C T snp 390.77 0/1 99 25 11 14 0.56 intronic IFNAR2 AR,AU NM_001289126 exon5 c.4968+146C>T Uncertain 21_34624386_-->ATCTATCT 21 34624386 34624386 - ATCTATCT indel 1737.73 ./1 99 26 0 26 1.0 intronic rs368974474 IFNAR2 AR,AU NM_001289126 exon7 c.10739-580insATCTATCT 0.0547125 0.006 Uncertain 21_34624387_ATCT->- 21 34624387 34624390 ATCT - indel 1737.73 ./1 99 26 0 26 1.0 intronic rs61192253 IFNAR2 AR,AU NM_001289126 exon7 c.10739-579_10739-576delATCT Uncertain 21_34624917_A->G 21 34624917 34624917 A G snp 68.77 0/1 97 10 7 3 0.3 intronic rs2236757 IFNAR2 AR,AU NM_001289126 exon7 c.10739-49A>G 0.625399 0.4345 0.737271 0.6513 0.4195 Uncertain 21_34634878_G->A 21 34634878 34634878 G A snp 74.77 0/1 99 8 5 3 0.38 intronic rs1131668 IFNAR2 AR,AU NM_000874 exon9 c.20638+13G>A 0.435304 0.5942 0.4301 0.5833 0.2 T 0.0 P -0.951 T 0.599 T 0.024 P Uncertain 21_34635053_-->T 21 34635053 34635053 - T indel 1420.73 0/1 99 75 34 41 0.55 intronic rs3216172 IFNAR2 AR,AU NM_000874 exon9 c.20835-9insT 0.451478 0.6111 0.320920 0.3900 0.5943 Uncertain 21_34635065_C->T 21 34635065 34635065 C T snp 2462.77 1/1 99 80 0 80 1.0 intronic rs9984273 IFNAR2 AR,AU NM_000874 exon9 c.20835+3C>T 0.73722 0.8978 0.656944 0.7268 0.9181 Uncertain 21_34635080_T->- 21 34635080 34635080 T - indel 513.73 0/1 99 79 30 49 0.62 intronic rs34865572 IFNAR2 AR,AU NM_001289126 exon8 c.20870-17delT 0.4468 0.4887 Uncertain 21_34638859_G->A 21 34638859 34638859 G A snp 1496.77 1/1 99 56 0 56 1.0 intronic rs2239573 IL10RB AR,AU NM_000628 exon1 c.49+40G>A 0.619808 0.7619 0.667320 0.6768 0.7519 Uncertain 21_34640788_A->G 21 34640788 34640788 A G snp 508.77 0/1 99 61 37 24 0.39 exonic rs2834167 IL10RB AR,AU nonsynonymous SNV NM_000628 exon2 c.A139G p.K47E 0.339457 0.5635 0.214516 0.3189 0.5716 0.34 T 0.0 P -0.866 T 0.583 P 0.284 P CLINSIG=other;CLNDBN=Hepatitis_b_virus\x2c_susceptibility_to;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000018431.1;CLNDSDB=MedGen:OMIM;CLNDSDBID=C1864880:610424 ID=CM066574;DIS=Hepatitis B persistence, association with;TAG=DP;PUB=16757563 DP Pathogenic 21_34648808_C->T 21 34648808 34648808 C T snp 72.77 0/1 67 5 2 3 0.6 intronic rs2849997 IL10RB AR,AU NM_000628 exon3 c.10130-92C>T 0.284145 0.1815 Uncertain 21_34649123_G->A 21 34649123 34649123 G A snp 1386.77 0/1 99 91 43 48 0.53 intronic rs2285020 IL10RB AR,AU NM_000628 exon3 c.10288+65G>A 0.284545 0.1815 Uncertain 21_34666376_A->G 21 34666376 34666376 A G snp 892.77 0/1 99 99 59 40 0.4 intronic rs1467845 IL10RB AR,AU NM_000628 exon7 c.29718-2112A>G 0.730431 0.7609 0.6696 0.775 Uncertain 21_34666492_C->T 21 34666492 34666492 C T snp 80.77 0/1 99 6 3 3 0.5 intronic rs999259 IL10RB AR,AU NM_000628 exon7 c.29718-1996C>T 0.508986 0.3661 Uncertain 21_34668747_A->G 21 34668747 34668747 A G snp 2402.77 0/1 99 190 96 94 0.49 UTR3 rs3171425 IL10RB AR,AU 0.56849 0.7569 0.6362 0.7596 Uncertain 21_34697264_T->C 21 34697264 34697264 T C snp 760.77 0/1 99 66 35 31 0.47 UTR5 rs2850015 IFNAR1 AU 0.814297 0.7639 ID=CR078166;DIS=Increased expression;TAG=FP;PUB=17125879 FP Uncertain 21_34707808_T->G 21 34707808 34707808 T G snp 921.77 0/1 99 84 43 41 0.49 intronic rs2243592 IFNAR1 AU NM_000629 exon2 c.10469-21T>G 0.362819 0.3621 0.372367 0.4275 0.3822 Uncertain 21_34708061_A->G 21 34708061 34708061 A G snp 34.77 0/1 63 5 3 2 0.4 intronic rs2243594 IFNAR1 AU NM_000629 exon2 c.10593+108A>G 0.362819 0.3621 Uncertain 21_34715699_G->C 21 34715699 34715699 G C snp 1617.77 0/1 99 161 87 74 0.46 exonic rs2257167 IFNAR1 AU nonsynonymous SNV NM_000629 exon4 c.G502C p.V168L 0.228834 0.377 0.143011 0.1821 0.3572 0.77 T 0.0 P -1.004 T 0.761 T 0.482 P ID=CM035835;DIS=Cerebral malaria, association with;TAG=DP;PUB=12761564 DP Pathogenic 21_34726127_T->A 21 34726127 34726127 T A snp 1068.77 1/1 78 37 0 37 1.0 intronic rs2856973 IFNAR1 AU NM_000629 exon10 c.28729+38T>A 0.871206 0.9911 0.780966 0.7978 0.9979 Uncertain 21_34793706_C->T 21 34793706 34793706 C T snp 3164.77 1/1 99 97 0 97 1.0 intronic IFNGR2 AR NM_005534 exon3 c.17937-80C>T 0.360623 0.1925 Uncertain 21_34799350_C->G 21 34799350 34799350 C G snp 2549.77 1/1 99 95 0 95 1.0 intronic IFNGR2 AR NM_005534 exon4 c.23490+11C>G 0.842252 0.9861 0.752191 0.7642 0.9931 Uncertain 21_34804966_T->C 21 34804966 34804966 T C snp 3712.77 1/1 99 144 0 144 1.0 intronic IFNGR2 AR NM_005534 exon6 c.29171-54T>C 0.84345 0.9851 Uncertain 21_34805197_-->T 21 34805197 34805197 - T indel 129.77 1/1 21 21 0 21 1.0 intronic IFNGR2 AR NM_005534 exon6 c.29329+19insT 0.1562 0.1295 Uncertain 21_34839533_A->G 21 34839533 34839533 A G snp 2046.77 1/1 99 62 0 62 1.0 intronic TMEM50B AU NM_006134 exon5 c.16305+104A>G 0.316094 0.1885 Uncertain 21_34860750_AATTA->- 21 34860750 34860754 AATTA - indel 7523.73 1/1 99 109 0 109 1.0 exonic DNAJC28 AU frameshift deletion NM_001040192 exon2 c.947_951del p.L316fs 0.151757 0.1667 0.163445 0.2092 0.1434 Pathogenic 21_34870990_G->A 21 34870990 34870990 G A snp 3701.77 1/1 99 136 0 136 1.0 intergenic DNAJC28 AU 0.151757 0.1647 0.2025 0.1824 Uncertain 21_34878450_A->T 21 34878450 34878450 A T snp 2208.77 1/1 99 76 0 76 1.0 intronic GART AU NM_000819 exon4 c.1981+39A>T 0.148363 0.1508 0.184992 0.2139 0.1442 Uncertain 21_34883618_T->C 21 34883618 34883618 T C snp 4513.77 1/1 99 169 0 169 1.0 exonic GART AU nonsynonymous SNV NM_000819 exon17 c.A2255G p.D752G 0.152157 0.1647 0.173612 0.2093 0.1440 0.37 T 1.000 P -0.974 T 0.04 T 0.102 T Pathogenic 21_34892896_C->T 21 34892896 34892896 C T snp 1063.77 1/1 78 36 0 36 1.0 intronic rs2834232 GART AU NM_000819 exon9 c.16439+27C>T 0.152356 0.1647 0.173305 0.2243 0.1600 Uncertain 21_34892971_G->T 21 34892971 34892971 G T snp 56.74 1/1 6 2 0 2 1.0 intronic GART AU NM_000819 exon9 c.16439+102G>T Uncertain 21_34894623_T->C 21 34894623 34894623 T C snp 1452.77 1/1 99 51 0 51 1.0 intronic rs2834234 GART AU NM_000819 exon11 c.18159+34T>C 0.874002 0.9831 0.808857 0.8103 0.9922 Uncertain 21_34896962_C->G 21 34896962 34896962 C G snp 838.77 1/1 63 25 0 25 1.0 UTR3 rs1804385 GART AU 0.168331 0.1657 Uncertain 21_34897113_C->T 21 34897113 34897113 C T snp 5692.77 1/1 99 197 0 197 1.0 exonic rs8788 GART AU nonsynonymous SNV NM_000819 exon11 c.G1261A p.V421I 0.874201 0.9831 0.808396 0.8080 0.9923 1 T 1.0 P -0.949 T 0.0 T 0.001 T Pathogenic 21_34897391_-->T 21 34897391 34897391 - T indel 129.52 1/1 7 28 1 27 0.96 intronic rs35083461 GART AU NM_175085 exon1 c.236+84insT Uncertain 21_34915324_C->G 21 34915324 34915324 C G snp 1203.77 1/1 87 38 1 37 0.97 upstream rs1041745 GART AU 1 1 Uncertain 21_34915325_G->C 21 34915325 34915325 G C snp 1230.77 1/1 90 39 1 38 0.97 upstream rs1041746 GART AU 0.999201 1 Uncertain 21_34924243_T->C 21 34924243 34924243 T C snp 4044.77 1/1 99 139 0 139 1.0 exonic rs16990760 SON AU synonymous SNV NM_032195 exon3 c.T2706C p.D902D 0.180312 0.1657 0.211902 0.2488 0.1456 Uncertain 21_34925142_C->T 21 34925142 34925142 C T snp 3120.77 1/1 99 106 0 106 1.0 exonic rs13433428 SON AU nonsynonymous SNV NM_032195 exon3 c.C3605T p.S1202L 1 1 0.999846 0.9999 1 0.6 T 0.000 P -0.964 T 0.0 T 0.0 T Pathogenic 21_34925689_G->A 21 34925689 34925689 G A snp 7626.77 1/1 99 250 4 246 0.98 exonic rs61739710 SON AU synonymous SNV NM_032195 exon3 c.G4152A p.L1384L 0.175919 0.1637 0.204982 0.2447 0.1451 1.000 P Uncertain 21_34926260_C->T 21 34926260 34926260 C T snp 6275.77 1/1 99 232 0 232 1.0 exonic rs13047599 SON AU nonsynonymous SNV NM_032195 exon3 c.C4723T p.R1575C 0.716254 0.751 0.704905 0.6779 0.7460 0.51 T 0.0 P -1.077 T 0.001 T 0.0 T Pathogenic 21_34927751_-->T 21 34927751 34927751 - T indel 1871.73 1/1 99 74 0 74 1.0 intronic rs34040109 SON AU NM_001291411 exon3 c.12299+54insT 0.184704 0.1647 Uncertain 21_34948684_-->A 21 34948684 34948684 - A indel 3880.73 1/1 99 95 0 95 1.0 intergenic rs34377180 SON AU 1 1 0.999520 1.0000 1 ID=COSM1413901;OCCURENCE=1(large_intestine) Uncertain 21_34948697_A->- 21 34948697 34948697 A - indel 4184.73 1/1 99 93 0 93 1.0 intergenic rs34373121 SON AU 1 1 0.9999 1 ID=COSM1684637;OCCURENCE=2(central_nervous_system),1(haematopoietic_and_lymphoid_tissue),1(lung),1(large_intestine) Uncertain 21_34954170_A->G 21 34954170 34954170 A G snp 433.77 1/1 33 11 0 11 1.0 intronic rs62227710 DONSON AU NM_017613 exon4 c.3644-86A>G 0.204273 0.1647 Uncertain 21_34959776_G->A 21 34959776 34959776 G A snp 396.77 1/1 30 14 0 14 1.0 intronic rs7283856 DONSON AU NM_017613 exon9 c.9215-51G>A 0.710264 0.75 Uncertain 21_34985754_T->C 21 34985754 34985754 T C snp 1777.77 1/1 99 58 0 58 1.0 intronic rs2276226 CRYZL1 AU NM_145858 exon8 c.23716-89T>C 0.174321 0.1637 Uncertain 21_34988745_T->C 21 34988745 34988745 T C snp 133.03 1/1 12 4 0 4 1.0 intronic rs6517184 CRYZL1 AU NM_145858 exon9 c.26884-266T>C 0.863219 0.9861 Uncertain 21_35012719_G->C 21 35012719 35012719 G C snp 1011.77 1/1 75 29 0 29 1.0 intronic rs6517185 CRYZL1 AU NM_145858 exon13 c.51859-1267G>C 0.859026 0.9841 Uncertain 21_35012720_G->T 21 35012720 35012720 G T snp 971.77 1/1 72 28 0 28 1.0 intronic rs6517186 CRYZL1 AU NM_145858 exon13 c.51859-1266G>T 0.861022 0.9861 Uncertain 21_35124253_A->G 21 35124253 35124253 A G snp 1068.77 1/1 75 42 0 42 1.0 intronic rs2834255 ITSN1 AU NM_001001132 exon7 c.33078+42A>G 0.889776 0.9871 0.826234 0.8441 0.9938 Uncertain 21_35127620_G->T 21 35127620 35127620 G T snp 1253.77 0/1 99 120 63 57 0.47 exonic rs546895300 ITSN1 AU nonsynonymous SNV NM_001001132 exon8 c.G642T p.E214D 0.000199681 0.001 1.684e-05 0.0002 0.58 T 0.995 D -1.012 T 0.003 T 0.007 T Pathogenic 21_35134084_-->C 21 35134084 35134084 - C indel 3919.73 1/1 99 101 0 101 1.0 intronic rs11444980 ITSN1 AU NM_001001132 exon9 c.43093-142insC 0.9998 1 Uncertain 21_35174897_-->A 21 35174897 35174897 - A indel 939.73 1/1 99 47 0 47 1.0 intronic rs11390596 ITSN1 AU NM_001001132 exon20 c.83615+149insA 0.330072 0.3165 Uncertain 21_35228953_A->G 21 35228953 35228953 A G snp 2411.77 1/1 99 77 0 77 1.0 intergenic rs9305535 ITSN1 AU 0.671326 0.9048 Uncertain 21_35230987_T->C 21 35230987 35230987 T C snp 2550.77 0/1 99 232 116 116 0.5 intergenic rs2073367 ITSN1 AU 0.0613019 0.0694 0.075888 0.0722 0.0847 Uncertain 21_35237349_A->G 21 35237349 35237349 A G snp 2151.77 1/1 99 63 0 63 1.0 intergenic rs9984732 ITSN1 AU 0.831869 0.9425 Uncertain 21_35237608_T->C 21 35237608 35237608 T C snp 2770.77 1/1 99 87 0 87 1.0 intergenic rs9976801 ITSN1 AU 0.831669 0.9425 0.762425 0.7681 0.9482 1.0 P Uncertain 21_35239562_A->G 21 35239562 35239562 A G snp 1039.77 0/1 99 99 52 47 0.47 intergenic rs56279221 ITSN1 AU 0.0519169 0.0685 0.062971 0.0689 0.0852 0.01 T 1 D -0.827 T 0.997 D 0.99 D Uncertain 21_35247611_G->A 21 35247611 35247611 G A snp 1037.77 0/1 99 80 40 40 0.5 intergenic rs2298681 ITSN1 AU 0.571685 0.6141 0.587652 0.5343 0.5719 Uncertain 21_35247873_C->G 21 35247873 35247873 C G snp 590.77 0/1 99 46 21 25 0.54 intergenic rs933130 ITSN1 AU 0.581869 0.6181 0.588448 0.5412 0.5723 Uncertain 21_35275955_G->A 21 35275955 35275955 G A snp 5411.77 1/1 99 208 0 208 1.0 intronic rs9980730 ATP5O AU NM_001697 exon1 c.114+12G>A 0.991014 1 0.977626 0.9811 0.9998 0.000 P -1.010 T Uncertain 21_35446136_C->G 21 35446136 35446136 C G snp 307.77 0/1 99 31 16 15 0.48 intronic rs79607614 MRPS6 AU NM_032476 exon1 c.45+91C>G 0.563698 0.2907 Uncertain 21_35467373_C->- 21 35467373 35467373 C - indel 613.73 1/1 48 16 0 16 1.0 UTR5 rs11295804 SLC5A3 AU 1 1 Uncertain 21_35467473_G->- 21 35467473 35467473 G - indel 6968.73 1/1 99 155 0 155 1.0 UTR5 rs11295803 SLC5A3 AU 1 1 1 1 Uncertain 21_35467645_A->G 21 35467645 35467645 A G snp 4533.77 1/1 99 151 0 151 1.0 exonic rs8129891 SLC5A3 AU nonsynonymous SNV NM_006933 exon2 c.A148G p.T50A 1 1 1 1 0.17 T 0.036 P -0.902 T 0.0 T 0.0 T Pathogenic 21_35469193_C->A 21 35469193 35469193 C A snp 4642.77 1/1 99 159 0 159 1.0 exonic rs4817617 SLC5A3 AU nonsynonymous SNV NM_006933 exon2 c.C1696A p.Q566K 1 1 1 1 0.77 T 0.000 P -0.972 T 0.0 T 0.0 T Pathogenic 21_35469708_-->A 21 35469708 35469708 - A indel 234.75 1/1 24 10 0 10 1.0 UTR3 rs35685523 SLC5A3 AU 1 1 Uncertain 21_35742722_C->T 21 35742722 35742722 C T snp 465.77 0/1 99 59 40 19 0.32 intronic rs9305548 KCNE2 AU,AD 0.286941 0.2232 Uncertain 21_35772295_-->C 21 35772295 35772295 - C indel 865.73 0/1 99 62 32 30 0.48 downstream rs3833347 C21orf140 AU 0.278554 0.2123 Uncertain 21_35772977_G->C 21 35772977 35772977 G C snp 2019.77 0/1 99 182 99 83 0.46 exonic rs61740755 C21orf140 AU nonsynonymous SNV NM_001282537 exon1 c.C394G p.Q132E 0.0940495 0.1885 0.0989 0.2175 0.78 T 0.0 P -1.070 T Pathogenic 21_35774246_C->T 21 35774246 35774246 C T snp 59.74 1/1 6 3 0 3 1.0 upstream rs9979810 C21orf140 AU 0.352436 0.3284 Uncertain 21_35890409_C->T 21 35890409 35890409 C T snp 2043.77 1/1 99 75 0 75 1.0 exonic rs59601528 RCAN1 AU synonymous SNV NM_004414 exon4 c.G732A p.P244P 0.129593 0.375 0.042134 0.0956 0.3637 Uncertain 21_35893737_T->C 21 35893737 35893737 T C snp 3672.77 1/1 99 137 1 136 0.99 intronic rs8131131 RCAN1 AU NM_001285391 exon2 c.3415-59T>C 0.59385 0.875 0.5032 0.8497 Uncertain 21_35894128_T->C 21 35894128 35894128 T C snp 180.9 1/1 15 5 0 5 1.0 intronic rs6517237 RCAN1 AU NM_001285391 exon2 c.3575+172T>C 0.404752 0.6528 Uncertain 21_35896082_-->T 21 35896082 35896082 - T indel 113.8 1/1 18 9 0 9 1.0 intronic rs397796306 RCAN1 AU NM_001285391 exon3 c.5627+74insT 0.376597 0.5427 Uncertain 21_35985895_C->T 21 35985895 35985895 C T snp 1444.77 1/1 99 43 0 43 1.0 intronic rs915540 RCAN1 AU NM_001285389 exon4 c.95704-190C>T 0.861222 0.9722 Uncertain 21_36041577_G->A 21 36041577 36041577 G A snp 733.77 0/1 99 53 23 30 0.57 upstream rs62213788 CLIC6 AU 0.168331 0.1825 Uncertain 21_36041638_T->C 21 36041638 36041638 T C snp 1190.77 0/1 99 99 47 52 0.53 upstream rs73357389 CLIC6 AU 0.269968 0.1885 0.3822 0.25 Uncertain 21_36041978_A->G 21 36041978 36041978 A G snp 395.77 1/1 30 13 0 13 1.0 exonic rs7280973 CLIC6 AU synonymous SNV NM_053277 exon1 c.A291G p.Q97Q 1 1 1 1 Uncertain 21_36042203_G->C 21 36042203 36042203 G C snp 196.84 1/1 18 6 0 6 1.0 exonic rs9680380 CLIC6 AU synonymous SNV NM_053277 exon1 c.G516C p.A172A 1 1 1 1 Uncertain 21_36042463_GCGTAGAAGCGGGGGTCCCGGCGGGGGACA->- 21 36042463 36042492 GCGTAGAAGCGGGGGTCCCGGCGGGGGACA - indel 1023.73 0/1 99 26 17 9 0.35 exonic rs557556798 CLIC6 AU nonframeshift deletion NM_053277 exon1 c.776_805del p.259_269del 0.192492 0.1835 0.195309 0.4150 0.3718 Uncertain 21_36042579_C->G 21 36042579 36042579 C G snp 413.77 0/1 99 31 13 18 0.58 exonic rs13049028 CLIC6 AU nonsynonymous SNV NM_053277 exon1 c.C892G p.Q298E 0.222843 0.1825 0.157564 0.3646 0.3611 1 T 0.0 P -0.936 T 0.0 T 0.0 T Pathogenic 21_36042584_G->A 21 36042584 36042584 G A snp 434.77 0/1 99 36 17 19 0.53 exonic rs13049239 CLIC6 AU synonymous SNV NM_053277 exon1 c.G897A p.S299S 0.219848 0.1825 0.142500 0.3715 0.3902 Uncertain 21_36079492_G->A 21 36079492 36079492 G A snp 1153.77 0/1 99 59 19 40 0.68 intronic rs2070367 CLIC6 AU NM_053277 exon2 c.37890-85G>A 0.173722 0.2024 Uncertain 21_36080204_A->G 21 36080204 36080204 A G snp 936.77 1/1 69 29 0 29 1.0 intronic rs6517253 CLIC6 AU NM_053277 exon3 c.38554-37A>G 0.981829 1 0.973243 0.9826 1 Uncertain 21_36080290_C->T 21 36080290 36080290 C T snp 1265.77 0/1 99 104 48 56 0.54 exonic rs6517254 CLIC6 AU synonymous SNV NM_053277 exon3 c.C1533T p.F511F 0.370008 0.1944 0.461787 0.3423 0.1922 Uncertain 21_36080398_T->C 21 36080398 36080398 T C snp 1196.77 0/1 99 103 52 51 0.5 intronic rs2070368 CLIC6 AU NM_053277 exon3 c.38680+31T>C 0.434704 0.62 0.342150 0.4329 0.6150 Uncertain 21_36080908_G->A 21 36080908 36080908 G A snp 1147.77 1/1 84 29 0 29 1.0 intronic rs2834597 CLIC6 AU NM_053277 exon4 c.39310-89G>A 0.782149 0.8135 Uncertain 21_36081626_C->G 21 36081626 36081626 C G snp 1764.77 0/1 99 152 79 73 0.48 intronic rs3819041 CLIC6 AU NM_053277 exon5 c.39967-28C>G 0.438698 0.6181 0.355913 0.4464 0.6133 Uncertain 21_36164405_G->T 21 36164405 36164405 G T snp 302.77 0/1 99 28 15 13 0.46 UTR3 rs13051066 RUNX1 AD 0.370607 0.3879 0.6003 0.5 Uncertain 21_36165041_T->C 21 36165041 36165041 T C snp 232.77 0/1 99 12 4 8 0.67 intronic rs11700756 RUNX1 AD NM_001001890 exon1 c.476+134T>C 0.523163 0.4256 Uncertain 21_36193871_T->C 21 36193871 36193871 T C snp 311.78 1/1 24 9 0 9 1.0 intronic rs2018329 RUNX1 AD NM_001122607 exon1 c.29-122T>C 0.830671 0.9931 Uncertain 21_36206932_G->A 21 36206932 36206932 G A snp 124.03 1/1 12 7 1 6 0.86 intronic rs11702841 RUNX1 AD NM_001001890 exon3 c.42467+34G>A 1 1 1 1 Uncertain 21_36410910_C->G 21 36410910 36410910 C G snp 36.77 0/1 65 23 19 4 0.17 ncRNA_exonic rs8126848 RUNX1-IT1 AU 0.1055 0.1618 Uncertain 21_36410912_G->C 21 36410912 36410912 G C snp 230.77 0/1 99 25 16 9 0.36 ncRNA_exonic rs201895144 RUNX1-IT1 AU 0.0034 0 Uncertain 21_36411119_G->T 21 36411119 36411119 G T snp 1435.77 0/1 99 162 95 67 0.41 ncRNA_exonic rs3746865 RUNX1-IT1 AU 0.203275 0.38 0.3232 0.4113 Uncertain 21_36421036_T->C 21 36421036 36421036 T C snp 532.77 0/1 99 46 23 23 0.5 intronic rs8133634 RUNX1 AD NM_001754 exon8 c.256707-102T>C 0.573083 0.5427 Uncertain 21_36422283_ACACACAC->- 21 36422283 36422290 ACACACAC - indel 1187.73 0/1 99 39 23 16 0.41 upstream rs200347085 RUNX1 AD Uncertain 21_36422478_C->T 21 36422478 36422478 C T snp 360.77 0/1 99 31 16 15 0.48 upstream rs2071029 RUNX1 AD 0.265575 0.3611 Uncertain 21_37092980_G->A 21 37092980 37092980 G A snp 873.77 0/1 99 97 57 40 0.41 upstream rs9981293 MIR802 AU 0.348243 0.495 0.337961 0.4155 0.5129 Uncertain 21_37408609_ACGT->- 21 37408609 37408612 ACGT - indel 431.77 1/1 21 13 0 13 1.0 intronic rs368480506 SETD4 AU NM_001286752 exon1 c.135+60_135+63delACGT 0.745607 0.5605 Uncertain 21_37412752_T->C 21 37412752 37412752 T C snp 2096.77 0/1 99 170 82 88 0.52 intronic rs2255858 SETD4 AU NM_001286752 exon3 c.4458-120T>C 0.378594 0.3403 Uncertain 21_37413946_C->T 21 37413946 37413946 C T snp 345.77 0/1 99 37 23 14 0.38 intronic rs2835243 SETD4 AU NM_001286752 exon4 c.5690-158C>T 0.413538 0.3383 Uncertain 21_37414194_C->A 21 37414194 37414194 C A snp 50.77 0/1 79 18 14 4 0.22 intronic SETD4 AU NM_001286752 exon4 c.5772+8C>A Uncertain 21_37414194_-->A 21 37414194 37414194 - A indel 170.73 1/1 34 18 0 18 1.0 intronic rs11404455 SETD4 AU NM_001286752 exon4 c.5772+8insA 0.3895 0.3326 Uncertain 21_37420650_G->A 21 37420650 37420650 G A snp 1538.77 0/1 99 138 75 63 0.46 exonic rs8738 SETD4 AU synonymous SNV NM_001007259 exon5 c.C252T p.T84T 0.124201 0.2103 0.083884 0.1290 0.2120 Uncertain 21_37420785_C->T 21 37420785 37420785 C T snp 172.77 0/1 99 21 13 8 0.38 intronic rs880221 SETD4 AU NM_001007261 exon3 c.4638+91C>T 0.378594 0.3403 Uncertain 21_37425955_C->T 21 37425955 37425955 C T snp 4654.77 1/1 99 166 0 166 1.0 intronic rs762360 SETD4 AU NM_001007261 exon4 c.9862+37C>T 0.738618 0.5565 0.726050 0.7250 0.5486 Uncertain 21_37425971_C->T 21 37425971 37425971 C T snp 3787.77 1/1 99 127 0 127 1.0 intronic rs762361 SETD4 AU NM_001007261 exon4 c.9862+53C>T 0.738419 0.5565 0.721200 Uncertain 21_37429679_G->C 21 37429679 37429679 G C snp 1476.77 1/1 99 53 0 53 1.0 splicing rs7282629 SETD4 AU NM_001007261 exon6 c.13625-2G>C 1 1 0.9999 1 Pathogenic 21_37431265_G->T 21 37431265 37431265 G T snp 470.77 0/1 99 52 29 23 0.44 UTR5 rs2051395 SETD4 AU 0.41274 0.3393 Uncertain 21_37442632_G->C 21 37442632 37442632 G C snp 1983.77 0/1 99 220 136 84 0.38 exonic rs25678 CBR1 AU synonymous SNV NM_001757 exon1 c.G219C p.L73L 0.160543 0.2093 0.120966 0.1616 0.2086 Uncertain 21_37443480_T->G 21 37443480 37443480 T G snp 1248.77 0/1 99 109 58 51 0.47 ncRNA_intronic rs1005696 LOC100133286 AU 0.596845 0.3343 0.6467 0.4286 0.0 P -0.970 T 0.0 T 0.0 T Uncertain 21_37443565_G->C 21 37443565 37443565 G C snp 581.77 0/1 99 47 24 23 0.49 ncRNA_intronic rs1005695 LOC100133286 AU 0.550719 0.3323 Uncertain 21_37443658_T->C 21 37443658 37443658 T C snp 90.28 1/1 9 3 0 3 1.0 ncRNA_intronic rs1005694 LOC100133286 AU 0.904752 0.7202 Uncertain 21_37444120_C->T 21 37444120 37444120 C T snp 635.77 0/1 99 64 35 29 0.45 ncRNA_intronic rs35710857 LOC100133286 AU 0.126198 0.2133 0.1523 0.1869 Uncertain 21_37444696_C->T 21 37444696 37444696 C T snp 2791.77 0/1 99 249 129 120 0.48 ncRNA_intronic rs2835265 LOC100133286 AU 0.126398 0.2133 0.085960 0.1362 0.2130 0 D 0.0 P -1.012 T Uncertain 21_37444973_C->T 21 37444973 37444973 C T snp 2458.77 0/1 99 231 122 109 0.47 exonic rs20572 CBR1 AU synonymous SNV NM_001757 exon3 c.C627T p.A209A 0.1252 0.2133 0.086345 0.1327 0.2103 Uncertain 21_37507745_C->T 21 37507745 37507745 C T snp 5710.77 1/1 99 203 0 203 1.0 exonic rs881711 CBR3 AU synonymous SNV NM_001236 exon1 c.C255T p.N85N 0.820288 0.8403 0.846609 0.8388 0.8556 Uncertain 21_37518362_A->G 21 37518362 37518362 A G snp 829.77 1/1 60 27 0 27 1.0 ncRNA_intronic rs2835286 CBR3-AS1 AU 0.79373 0.8373 0.800169 0.7912 0.8549 Uncertain 21_37518706_G->A 21 37518706 37518706 G A snp 7180.77 1/1 99 250 0 250 1.0 exonic rs1056892 CBR3 AU nonsynonymous SNV NM_001236 exon3 c.G730A p.V244M 0.427117 0.4048 0.398739 0.3742 0.4181 0.05 T 0.102 P -0.904 T 0.622 T 0.141 P ID=CM057648;DIS=Increased catalytic efficiency;TAG=FP;PUB=15537833 FP Pathogenic 21_37583804_C->T 21 37583804 37583804 C T snp 6849.77 1/1 99 250 0 250 1.0 intronic rs2239568 DOPEY2 AU NM_005128 exon6 c.46819-46C>T 0.328275 0.4851 0.293864 0.3535 0.4660 Uncertain 21_37586877_T->C 21 37586877 37586877 T C snp 4943.77 1/1 99 180 0 180 1.0 intronic rs2850079 DOPEY2 AU NM_005128 exon9 c.49823+23T>C 0.785543 0.8383 0.762879 0.7590 0.8467 Uncertain 21_37599824_T->G 21 37599824 37599824 T G snp 133.03 1/1 12 5 0 5 1.0 intronic rs7280662 DOPEY2 AU NM_005128 exon13 c.62952-159T>G 0.488818 0.6478 Uncertain 21_37599842_-->A 21 37599842 37599842 - A indel 220.74 0/1 25 12 2 10 0.83 intronic rs11431401 DOPEY2 AU NM_005128 exon13 c.62952-141insA 0.40655 0.4435 Uncertain 21_37609571_T->C 21 37609571 37609571 T C snp 8144.77 1/1 99 250 0 250 1.0 exonic rs2835322 DOPEY2 AU synonymous SNV NM_005128 exon16 c.T2634C p.R878R 0.439896 0.4276 0.474243 0.4927 0.4247 Uncertain 21_37611892_G->A 21 37611892 37611892 G A snp 48.74 1/1 6 2 0 2 1.0 intronic rs2845756 DOPEY2 AU NM_005128 exon18 c.75031-170G>A 0.423123 0.4266 Uncertain 21_37617630_T->G 21 37617630 37617630 T G snp 7230.77 1/1 99 250 0 250 1.0 exonic rs4817788 DOPEY2 AU nonsynonymous SNV NM_005128 exon19 c.T3352G p.C1118G 0.949281 0.999 0.900507 0.9057 0.9995 1 T 0.000 P -1.001 T 0.0 T 0.0 T Pathogenic 21_37692589_A->T 21 37692589 37692589 A T snp 1633.77 0/1 99 132 57 75 0.57 exonic rs2236433 MORC3 AU synonymous SNV NM_015358 exon1 c.A27T p.I9I 0.226438 0.4871 0.106703 0.3054 0.5911 Uncertain 21_37728892_-->TTGAA 21 37728892 37728892 - TTGAA indel 600.74 1/1 27 9 0 9 1.0 intronic rs141327973 MORC3 AU NM_015358 exon10 c.36355-25insTTGAA 0.852636 0.995 0.680428 0.7359 0.9982 Uncertain 21_37729088_G->C 21 37729088 37729088 G C snp 1567.77 1/1 99 58 0 58 1.0 intronic rs2835339 MORC3 AU NM_015358 exon10 c.36460+66G>C 0.707268 0.996 Uncertain 21_37769577_A->G 21 37769577 37769577 A G snp 180.9 1/1 15 5 0 5 1.0 intronic rs73902503 CHAF1B AU NM_005441 exon6 c.11278-135A>G 0.220647 0.4494 Uncertain 21_37775276_T->C 21 37775276 37775276 T C snp 283.77 0/1 99 21 11 10 0.48 intronic rs35705526 CHAF1B AU NM_005441 exon8 c.16715+127T>C 0.209065 0.4484 Uncertain 21_37784070_G->A 21 37784070 37784070 G A snp 77.77 0/1 69 5 2 3 0.6 intronic rs218630 CHAF1B AU NM_005441 exon11 c.25468+168G>A 0.596246 0.5833 Uncertain 21_38081562_T->G 21 38081562 38081562 T G snp 1739.77 0/1 99 151 76 75 0.5 intronic rs2070647 SIM2 AU NM_009586 exon2 c.9504+12T>G 0.775759 0.6716 0.791005 0.7501 0.6576 Uncertain 21_38081577_C->G 21 38081577 38081577 C G snp 1467.77 0/1 99 142 77 65 0.46 intronic rs2070648 SIM2 AU NM_009586 exon2 c.9504+27C>G 0.748003 0.6726 0.763887 0.7473 0.6833 Uncertain 21_38092039_A->C 21 38092039 38092039 A C snp 41.77 0/1 66 4 2 2 0.5 intronic rs2070650 SIM2 AU NM_009586 exon4 c.20075-82A>C 0.547324 0.502 Uncertain 21_38113998_C->A 21 38113998 38113998 C A snp 328.77 0/1 99 28 15 13 0.46 intronic rs2070519 SIM2 AU NM_009586 exon8 c.41971-19C>A 0.547125 0.2163 0.690374 0.6143 0.2380 Uncertain 21_38117040_G->A 21 38117040 38117040 G A snp 1917.77 0/1 99 135 62 73 0.54 exonic rs2073416 SIM2 AU synonymous SNV NM_005069 exon10 c.G1179A p.S393S 0.27496 0.2292 0.264073 0.3312 0.3445 1.000 P -0.973 T Likely benign 21_38117505_C->T 21 38117505 38117505 C T snp 2259.77 0/1 99 178 83 95 0.53 exonic rs2073602 SIM2 AU synonymous SNV NM_009586 exon10 c.C1644T p.G548G 0.278554 0.2292 0.276860 0.3334 0.3099 Uncertain 21_38129122_A->C 21 38129122 38129122 A C snp 347.78 1/1 27 9 0 9 1.0 intronic rs2845804 HLCS AR NM_001242784 exon2 c.2510+66A>C 0.573682 0.6756 Uncertain 21_38139632_C->A 21 38139632 38139632 C A snp 1421.77 1/1 99 45 0 45 1.0 intronic rs2073421 HLCS AR NM_001242784 exon5 c.13040+46C>A 0.627596 0.7014 0.575427 0.5633 0.6701 Uncertain 21_38302769_C->T 21 38302769 38302769 C T snp 2246.77 1/1 99 74 0 74 1.0 intronic rs2073425 HLCS AR NM_001242784 exon7 c.176187+36C>T 0.559704 0.625 0.540135 0.5863 0.6516 Uncertain 21_38338969_T->C 21 38338969 38338969 T C snp 1379.77 1/1 99 51 0 51 1.0 intronic rs9980304 HLCS AR NM_001242784 exon12 c.212410+13T>C 0.644569 0.756 0 . Uncertain 21_38339023_G->A 21 38339023 38339023 G A snp 68.77 0/1 97 12 9 3 0.25 intronic rs184468430 HLCS AR NM_001242784 exon12 c.212410+67G>A Uncertain 21_38339027_C->T 21 38339027 38339027 C T snp 212.77 0/1 88 12 3 9 0.75 intronic rs113500531 HLCS AR NM_001242784 exon12 c.212410+71C>T Uncertain 21_38380368_A->G 21 38380368 38380368 A G snp 1007.77 0/1 99 134 88 46 0.34 intronic rs2277786 RIPPLY3 AU NM_018962 exon2 c.1384-88A>G 0.40595 0.4871 Uncertain 21_38439718_-->A 21 38439718 38439718 - A indel 682.73 0/1 99 48 14 34 0.71 intronic rs202237435 PIGP AU NM_153682 exon2 c.1799+38insA 0.0215655 0.0188 0.020687 0.0152 0.0274 Uncertain 21_38441756_G->T 21 38441756 38441756 G T snp 225.77 0/1 99 25 15 10 0.4 intronic rs140703450 PIGP AU NM_153682 exon3 c.3970-95G>T 0.00419329 0.0188 Uncertain 21_38444863_C->T 21 38444863 38444863 C T snp 2898.77 1/1 99 106 0 106 1.0 exonic rs2507733 PIGP AU nonsynonymous SNV NM_153681 exon1 c.G25A p.A9T 1 1 1 1 1 T 0.000 P -0.965 T Pathogenic 21_38444890_A->G 21 38444890 38444890 A G snp 2268.77 1/1 99 84 0 84 1.0 UTR5 rs2298682 PIGP AU 0.375 0.381 0.434492 0.4380 0.4007 Uncertain 21_38444995_A->G 21 38444995 38444995 A G snp 387.77 1/1 30 10 0 10 1.0 UTR5 rs7280542 PIGP AU 0.598442 0.4643 Uncertain 21_38460338_T->A 21 38460338 38460338 T A snp 175.9 1/1 15 5 0 5 1.0 intronic rs2835584 TTC3 AU NM_003316 exon4 c.938-157T>A 0.40655 0.379 Uncertain 21_38460488_T->A 21 38460488 38460488 T A snp 162.9 1/1 15 5 0 5 1.0 intronic rs2835585 TTC3 AU NM_003316 exon4 c.938-7T>A 0.405351 0.379 0.439907 0.5137 0.4709 Uncertain 21_38461326_G->A 21 38461326 38461326 G A snp 766.77 1/1 57 23 0 23 1.0 intronic rs2835586 TTC3 AU NM_003316 exon5 c.1629+140G>A 0.406749 0.379 Uncertain 21_38462614_A->G 21 38462614 38462614 A G snp 1258.77 0/1 99 86 36 50 0.58 intronic rs3787780 TTC3 AU NM_003316 exon6 c.3029+28A>G 0.395767 0.3611 0.466395 0.4537 0.3670 Uncertain 21_38462716_A->G 21 38462716 38462716 A G snp 829.77 1/1 60 28 0 28 1.0 intronic rs2835588 TTC3 AU NM_003316 exon6 c.3029+130A>G 0.405351 0.379 Uncertain 21_38466203_G->T 21 38466203 38466203 G T snp 578.77 1/1 42 23 0 23 1.0 intronic rs2835595 TTC3 AU NM_003316 exon8 c.6747-101G>T 0.406749 0.379 Uncertain 21_38466261_T->A 21 38466261 38466261 T A snp 629.77 1/1 45 28 0 28 1.0 intronic rs3753070 TTC3 AU NM_003316 exon8 c.6747-43T>A 0.366613 0.3472 0.461032 0.4618 0.3905 Uncertain 21_38467616_C->A 21 38467616 38467616 C A snp 292.78 1/1 24 8 0 8 1.0 intronic rs2006941 TTC3 AU NM_003316 exon9 c.8092-33C>A 0.40595 0.379 0.476615 0.4695 0.3965 Uncertain 21_38467857_C->G 21 38467857 38467857 C G snp 1465.77 1/1 99 53 0 53 1.0 intronic rs2251161 TTC3 AU NM_003316 exon9 c.8187+113C>G 0.40655 0.379 Uncertain 21_38468958_A->G 21 38468958 38468958 A G snp 2167.77 1/1 99 76 0 76 1.0 intronic rs2835600 TTC3 AU NM_003316 exon10 c.9386+15A>G 0.40615 0.379 0.477000 0.4670 0.3954 Uncertain 21_38469017_T->G 21 38469017 38469017 T G snp 1049.77 1/1 75 38 0 38 1.0 intronic rs2835601 TTC3 AU NM_003316 exon10 c.9386+74T>G Uncertain 21_38469069_G->C 21 38469069 38469069 G C snp 373.77 1/1 30 13 0 13 1.0 intronic rs2835602 TTC3 AU NM_003316 exon10 c.9386+126G>C 0.40595 0.379 Uncertain 21_38470504_T->C 21 38470504 38470504 T C snp 332.78 1/1 27 10 0 10 1.0 intronic rs11911508 TTC3 AU NM_003316 exon10 c.9386+1561T>C 0.404752 0.379 Uncertain 21_38494290_T->A 21 38494290 38494290 T A snp 818.77 0/1 99 54 20 34 0.63 intronic rs186711258 TTC3 AU NM_003316 exon12 c.34722+11T>A 0.000399361 0.002 0.0002 0.0027 Uncertain 21_38495127_A->G 21 38495127 38495127 A G snp 235.77 0/1 99 21 13 8 0.38 intronic rs111801927 TTC3 AU NM_003316 exon13 c.35725-155A>G 0.0081869 0.0179 Uncertain 21_38495185_-->T 21 38495185 38495185 - T indel 1926.73 1/1 99 48 0 48 1.0 intronic rs11440324 TTC3 AU NM_003316 exon13 c.35725-97insT 1 1 Uncertain 21_38495213_-->A 21 38495213 38495213 - A indel 2030.73 1/1 99 53 0 53 1.0 intronic rs11440325 TTC3 AU NM_003316 exon13 c.35725-69insA 1 1 0.999920 Uncertain 21_38495270_-->T 21 38495270 38495270 - T indel 3011.73 1/1 99 73 0 73 1.0 intronic rs11440326 TTC3 AU NM_003316 exon13 c.35725-12insT 1 1 Uncertain 21_38497049_T->A 21 38497049 38497049 T A snp 745.77 0/1 99 69 33 36 0.52 intronic rs112975092 TTC3 AU NM_003316 exon14 c.37485+7T>A 0.00898562 0.0179 0.009150 0.0116 0.0266 Uncertain 21_38498248_T->C 21 38498248 38498248 T C snp 43.77 0/1 72 6 4 2 0.33 intronic rs111614774 TTC3 AU NM_003316 exon15 c.38822-131T>C 0.00898562 0.0179 Uncertain 21_38522618_G->T 21 38522618 38522618 G T snp 142.77 0/1 57 8 2 6 0.75 intronic rs2257091 TTC3 AU NM_003316 exon24 c.62913+148G>T 0.601438 0.621 Uncertain 21_38525198_G->A 21 38525198 38525198 G A snp 1258.77 1/1 93 39 0 39 1.0 intronic rs2051162 TTC3 AU NM_003316 exon27 c.65693-52G>A 0.870208 0.9901 Uncertain 21_38525356_T->C 21 38525356 38525356 T C snp 963.77 0/1 99 81 39 42 0.52 exonic rs1053808 TTC3 AU nonsynonymous SNV NM_001001894 exon27 c.T2519C p.M840T 0.627995 0.621 0.554360 0.5582 0.6142 1 T 0.000 P -0.928 T 0.0 T 0.0 T Pathogenic 21_38528855_A->C 21 38528855 38528855 A C snp 134.77 0/1 99 22 16 6 0.27 intronic rs147582059 TTC3 AU NM_003316 exon28 c.69399-101A>C 0.00778754 0.0179 Uncertain 21_38528866_A->G 21 38528866 38528866 A G snp 211.77 0/1 99 27 18 9 0.33 intronic rs2835635 TTC3 AU NM_003316 exon28 c.69399-90A>G 0.618211 0.62 Uncertain 21_38528873_G->- 21 38528873 38528873 G - indel 1268.73 1/1 93 31 0 31 1.0 intronic rs10706050 TTC3 AU NM_003316 exon28 c.69399-83delG 1 1 Uncertain 21_38529520_A->T 21 38529520 38529520 A T snp 1460.77 0/1 99 132 67 65 0.49 intronic rs145341094 TTC3 AU NM_003316 exon28 c.69651+312A>T 0.0081869 0.0179 0.0145 0.0282 Uncertain 21_38531863_T->C 21 38531863 38531863 T C snp 711.77 1/1 51 28 0 28 1.0 intronic rs4817852 TTC3 AU NM_003316 exon29 c.72443-137T>C 1 1 Uncertain 21_38531921_C->A 21 38531921 38531921 C A snp 1544.77 1/1 99 52 0 52 1.0 intronic rs1787365 TTC3 AU NM_003316 exon29 c.72443-79C>A 1 1 Uncertain 21_38532059_G->- 21 38532059 38532059 G - indel 5049.73 1/1 99 121 0 121 1.0 intronic rs34771928 TTC3 AU NM_003316 exon29 c.72490+12delG 1 1 1.0000 1 Uncertain 21_38532068_-->A 21 38532068 38532068 - A indel 4842.73 1/1 99 120 0 120 1.0 intronic rs113972351 TTC3 AU NM_003316 exon29 c.72490+21insA 1 1 0.999342 0.9982 0.9994 Uncertain 21_38532087_G->- 21 38532087 38532087 G - indel 5187.73 1/1 99 116 0 116 1.0 intronic rs34586966 TTC3 AU NM_003316 exon29 c.72490+40delG 1 1 1 1 Uncertain 21_38532192_-->T 21 38532192 38532192 - T indel 1020.73 1/1 78 28 0 28 1.0 intronic rs34367119 TTC3 AU NM_003316 exon29 c.72490+145insT 1 1 Uncertain 21_38532910_-->G 21 38532910 38532910 - G indel 174.87 1/1 15 5 0 5 1.0 intronic rs5843800 TTC3 AU NM_003316 exon30 c.73546-193insG 1 1 Uncertain 21_38534228_-->T 21 38534228 38534228 - T indel 514.73 1/1 54 18 0 18 1.0 intronic rs11424055 TTC3 AU NM_003316 exon31 c.74734-63insT 1 1 Uncertain 21_38534234_C->T 21 38534234 38534234 C T snp 576.77 1/1 42 22 0 22 1.0 intronic rs57522570 TTC3 AU NM_003316 exon31 c.74734-57C>T 1 1 Uncertain 21_38536348_A->G 21 38536348 38536348 A G snp 178.77 0/1 99 11 5 6 0.55 splicing rs112802894 TTC3 AU NM_003316 exon32 c.76795-4A>G 0.0081869 0.0179 0.008304 0.0114 0.0265 Pathogenic 21_38537779_A->G 21 38537779 38537779 A G snp 328.77 0/1 99 34 20 14 0.41 intronic rs3819265 TTC3 AU NM_003316 exon33 c.78294-72A>G 0.0081869 0.0179 Uncertain 21_38538018_T->C 21 38538018 38538018 T C snp 516.77 0/1 99 42 21 21 0.5 exonic rs61741846 TTC3 AU nonsynonymous SNV NM_001001894 exon33 c.T3502C p.C1168R 0.00778754 0.0179 0.008150 0.0113 0.0267 0.01 T 1 D -1.156 T 1.0 D 0.998 D Pathogenic 21_38539673_C->T 21 38539673 38539673 C T snp 172.9 1/1 15 7 0 7 1.0 intronic rs1793885 TTC3 AU NM_003316 exon34 c.80299-183C>T 1 1 Uncertain 21_38539677_A->T 21 38539677 38539677 A T snp 174.9 1/1 15 7 0 7 1.0 intronic rs4988831 TTC3 AU NM_003316 exon34 c.80299-179A>T 1 1 Uncertain 21_38539681_G->A 21 38539681 38539681 G A snp 177.9 1/1 15 7 0 7 1.0 intronic rs1793886 TTC3 AU NM_003316 exon34 c.80299-175G>A 1 1 Uncertain 21_38539745_-->A 21 38539745 38539745 - A indel 734.73 1/1 75 25 0 25 1.0 intronic rs397809580 TTC3 AU NM_003316 exon34 c.80299-111insA 0.9998 0.999 Uncertain 21_38539836_-->A 21 38539836 38539836 - A indel 3268.73 1/1 99 80 0 80 1.0 intronic rs397721946 TTC3 AU NM_003316 exon34 c.80299-20insA 1 1 1.0000 1 Uncertain 21_38564640_A->C 21 38564640 38564640 A C snp 505.77 0/1 99 36 19 17 0.47 intronic rs8132364 TTC3 AU NM_003316 exon41 c.104957+126A>C 0.0081869 0.0179 Uncertain 21_38568009_G->C 21 38568009 38568009 G C snp 6491.77 1/1 99 236 0 236 1.0 exonic rs1053966 TTC3 AU nonsynonymous SNV NM_001001894 exon42 c.G5251C p.D1751H 0.738419 0.8492 0.612794 0.6068 0.8409 0.39 T 0.0 P -1.016 T 0.0 T 0.0 T Pathogenic 21_38568215_C->T 21 38568215 38568215 C T snp 2364.77 0/1 99 206 105 101 0.49 exonic rs8130789 TTC3 AU synonymous SNV NM_001001894 exon42 c.C5457T p.S1819S 0.0081869 0.0179 0.008304 0.0113 0.0265 1 D -0.784 T Likely benign 21_38568259_C->T 21 38568259 38568259 C T snp 1935.77 0/1 99 178 91 87 0.49 exonic rs61736685 TTC3 AU nonsynonymous SNV NM_001001894 exon42 c.C5501T p.A1834V 0.00778754 0.0179 0.008150 0.0113 0.0266 0.05 T 1.000 N -0.972 T 0.342 T 0.028 T Pathogenic 21_38574018_C->T 21 38574018 38574018 C T snp 44.77 0/1 31 3 1 2 0.67 UTR3 rs1053984 TTC3 AU 0.629393 0.626 Uncertain 21_38592451_-->G 21 38592451 38592451 - G indel 632.73 1/1 51 17 0 17 1.0 ncRNA_intronic rs11434428 DSCR9 AU 1 1 Uncertain 21_38592712_G->A 21 38592712 38592712 G A snp 981.77 0/1 99 83 46 37 0.45 ncRNA_exonic rs8131588 DSCR9 AU 0.0081869 0.0179 Uncertain 21_38593620_G->T 21 38593620 38593620 G T snp 7010.77 1/1 99 250 1 249 1.0 ncRNA_exonic rs13864 DSCR9 AU 0.286142 0.256 0.300338 0.2885 0.2588 Uncertain 21_38593803_T->C 21 38593803 38593803 T C snp 1446.77 0/1 99 123 63 60 0.49 ncRNA_exonic rs35176483 DSCR9 AU 0.00838658 0.0188 0.008227 0.0112 0.0263 Uncertain 21_38597878_C->T 21 38597878 38597878 C T snp 503.77 0/1 99 74 49 25 0.34 exonic rs111365234 DSCR3 AU synonymous SNV NM_006052 exon8 c.G861A p.T287T 0.00658946 0.0188 0.001999 0.0032 0.0259 Uncertain 21_38599838_C->T 21 38599838 38599838 C T snp 371.77 0/1 99 21 7 14 0.67 intronic rs113566796 DSCR3 AU NM_006052 exon2 c.2110-116C>T 0.00838658 0.0188 Uncertain 21_38599935_G->- 21 38599935 38599935 G - indel 4626.73 1/1 99 116 0 116 1.0 intronic rs11300896 DSCR3 AU NM_006052 exon2 c.2110-19delG 1 1 1.0000 1 Uncertain 21_38600152_T->C 21 38600152 38600152 T C snp 192.77 0/1 99 15 7 8 0.53 intronic rs112826316 DSCR3 AU NM_006052 exon2 c.2263+45T>C 0.00838658 0.0188 0.5065 0.4978 Uncertain 21_38600155_G->- 21 38600155 38600155 G - indel 430.73 1/1 36 15 0 15 1.0 intronic rs10716173 DSCR3 AU NM_006052 exon2 c.2263+48delG 1 1 0.9999 0.9992 Uncertain 21_38604570_C->T 21 38604570 38604570 C T snp 224.84 1/1 18 6 0 6 1.0 intronic rs2835680 DSCR3 AU NM_006052 exon4 c.6833-107C>T 0.377196 0.4623 Uncertain 21_38604600_C->G 21 38604600 38604600 C G snp 264.77 0/1 99 13 5 8 0.62 intronic rs2835681 DSCR3 AU NM_006052 exon4 c.6833-77C>G 0.107628 0.2242 Uncertain 21_38639763_-->C 21 38639763 38639763 - C indel 199.8 1/1 18 7 0 7 1.0 UTR5 rs35672675 DSCR3 AU 1 1 Uncertain 21_38850640_G->A 21 38850640 38850640 G A snp 3157.77 1/1 99 103 0 103 1.0 intronic rs928763 DYRK1A AU NM_001396 exon3 c.57926+38G>A 0.899561 0.998 0.855528 0.8649 0.9973 Uncertain 21_38862862_C->T 21 38862862 38862862 C T snp 496.77 1/1 39 14 0 14 1.0 intronic rs67837743 DYRK1A AU NM_001396 exon6 c.70087+99C>T 1 1 Uncertain 21_38997701_G->A 21 38997701 38997701 G A snp 3011.77 0/1 99 250 126 124 0.5 exonic rs702859 KCNJ6 AD synonymous SNV NM_002240 exon4 c.C1032T p.D344D 0.773962 0.8671 0.725445 0.7092 0.8703 Uncertain 21_39086965_T->C 21 39086965 39086965 T C snp 4731.77 1/1 99 158 0 158 1.0 exonic rs2070995 KCNJ6 AD synonymous SNV NM_002240 exon3 c.A495G p.P165P 0.823283 0.6389 0.838007 0.8067 0.6169 ID=CM0910285;DIS=Increased postoperative analgesic requirements, association with;TAG=DP;PUB=19756153 DP Uncertain 21_39089582_A->G 21 39089582 39089582 A G snp 456.77 1/1 36 14 0 14 1.0 intronic rs857961 KCNJ6 AD NM_002240 exon2 c.89974+2148A>G 0.9998 1 Uncertain 21_39213020_G->A 21 39213020 39213020 G A snp 938.77 1/1 69 35 0 35 1.0 intronic rs2836016 KCNJ6 AD NM_002240 exon3 c.215551+9G>A 0.647764 0.7798 0.584650 0.5929 0.7918 Uncertain 21_39325234_C->T 21 39325234 39325234 C T snp 1678.77 0/1 99 141 71 70 0.5 intergenic rs2836061 KCNJ6 AD 0.282548 0.2143 0.1834 0.2193 0 D 0.0 P -0.929 T Uncertain 21_39671476_G->A 21 39671476 39671476 G A snp 6336.77 1/1 99 225 0 225 1.0 exonic rs2230033 KCNJ15 AU nonsynonymous SNV NM_170736 exon3 c.G293A p.G98D 0.288738 0.253 0.402891 0.4459 0.2929 0.0 P -0.943 T 0.093 T 0.079 T Pathogenic 21_39739478_A->G 21 39739478 39739478 A G snp 527.77 0/1 99 52 27 25 0.48 UTR3 rs62217874 ERG AU 0.180112 0.1508 Uncertain 21_39739665_T->A 21 39739665 39739665 T A snp 3990.77 1/1 99 153 0 153 1.0 intronic rs2836346 ERG AU NM_001243432 exon1 c.14+95T>A 0.755591 0.7847 Uncertain 21_39764211_T->A 21 39764211 39764211 T A snp 1773.77 0/1 99 134 56 78 0.58 intronic rs2836359 ERG AU NM_001243429 exon4 c.8973-86T>A 0.253195 0.2629 0.3120 0.2982 Uncertain 21_39764437_T->C 21 39764437 39764437 T C snp 265.77 0/1 99 16 7 9 0.56 intronic rs2836360 ERG AU NM_001243429 exon4 c.9042+71T>C 0.249601 0.2629 Uncertain 21_39774348_C->G 21 39774348 39774348 C G snp 71.77 0/1 99 6 3 3 0.5 intronic rs2836372 ERG AU NM_001243429 exon5 c.19154-130C>G 0.303514 0.2024 Uncertain 21_39775373_A->G 21 39775373 39775373 A G snp 752.77 1/1 57 21 0 21 1.0 intronic rs2836373 ERG AU NM_001243429 exon6 c.20103-54A>G 0.803115 0.8423 Uncertain 21_39818701_C->T 21 39818701 39818701 C T snp 1142.77 0/1 99 93 51 42 0.45 intronic rs2836408 ERG AU NM_182918 exon9 c.62220+1157C>T 0.0465256 0.0387 Uncertain 21_39818923_G->C 21 39818923 39818923 G C snp 1192.77 0/1 99 95 44 51 0.54 intronic rs2836409 ERG AU NM_182918 exon9 c.62220+1379G>C 0.455671 0.6062 Uncertain 21_39822650_G->T 21 39822650 39822650 G T snp 133.03 1/1 12 4 0 4 1.0 intronic rs2211871 ERG AU NM_182918 exon9 c.62220+5106G>T 0.926917 0.9187 Uncertain 21_39822906_G->C 21 39822906 39822906 G C snp 4860.77 1/1 99 171 0 171 1.0 intronic rs9305648 ERG AU NM_182918 exon9 c.62220+5362G>C 0.934105 0.9187 Uncertain 21_39823349_T->C 21 39823349 39823349 T C snp 596.77 1/1 45 16 0 16 1.0 intronic rs2051165 ERG AU NM_182918 exon9 c.62220+5805T>C 0.74361 0.8829 Uncertain 21_39870310_G->A 21 39870310 39870310 G A snp 1340.77 1/1 96 44 0 44 1.0 UTR5 rs2836441 ERG AU 0.890775 0.8442 0.887513 0.8707 0.8183 Uncertain 21_39947747_C->A 21 39947747 39947747 C A snp 1150.77 0/1 99 88 44 44 0.5 intronic rs2836527 ERG AU NM_001243429 exon8 c.192347+76C>A 0.126797 0.2212 Uncertain 21_40182177_T->C 21 40182177 40182177 T C snp 80.78 0/1 24 4 1 3 0.75 intronic rs3746882 ETS2 AU NM_005239 exon2 c.72+147T>C 0.175719 0.2103 Uncertain 21_40250763_A->- 21 40250763 40250763 A - indel 2733.73 0/1 99 159 80 79 0.5 ncRNA_exonic rs5843936 LOC400867 AU 0.741613 0.7986 0.6969 0.8143 Uncertain 21_40250766_G->A 21 40250766 40250766 G A snp 1869.77 0/1 99 152 80 72 0.47 ncRNA_exonic rs1569306 LOC400867 AU 0.658347 0.6657 0.6241 0.6826 Uncertain 21_40547329_T->C 21 40547329 40547329 T C snp 130.03 1/1 12 4 0 4 1.0 downstream rs9305669 PSMG1 AU 0.882788 0.8641 Uncertain 21_40547387_A->G 21 40547387 40547387 A G snp 529.77 1/1 39 19 0 19 1.0 UTR3 rs9305670 PSMG1 AU 0.882788 0.8651 Uncertain 21_40549289_G->C 21 40549289 40549289 G C snp 531.77 0/1 99 41 18 23 0.56 intronic rs2142111 PSMG1 AU NM_003720 exon2 c.1845-71G>C 0.366214 0.4554 Uncertain 21_40552307_A->G 21 40552307 40552307 A G snp 1659.77 0/1 99 148 74 74 0.5 exonic rs3171465 PSMG1 AU synonymous SNV NM_001261824 exon3 c.T297C p.A99A 0.473842 0.4117 0.456020 0.4794 0.4072 1.000 P Uncertain 21_40571246_A->G 21 40571246 40571246 A G snp 3314.77 0/1 99 249 121 128 0.51 exonic rs1041439 BRWD1 AU nonsynonymous SNV NM_018963 exon40 c.T5096C p.L1699P 0.852835 0.6091 0.946640 0.8969 0.6113 0.39 T 0.000 P -1.036 T 0.0 T 0.0 T Pathogenic 21_40574305_A->G 21 40574305 40574305 A G snp 998.77 0/1 99 99 54 45 0.45 exonic rs2183573 BRWD1 AU nonsynonymous SNV NM_018963 exon38 c.T4531C p.S1511P 0.61861 0.5734 0.598570 0.6196 0.5782 0 D 1.000 P -0.913 T 0.993 D 0.858 D Pathogenic 21_40584412_A->T 21 40584412 40584412 A T snp 39.77 0/1 68 4 2 2 0.5 intronic rs8132424 BRWD1 AU NM_018963 exon9 c.25640-179A>T 0.519569 0.4385 Uncertain 21_40584598_C->T 21 40584598 40584598 C T snp 327.77 0/1 99 43 26 17 0.4 exonic rs6517529 BRWD1 AU synonymous SNV NM_018963 exon34 c.G3894A p.R1298R 0.851637 0.6091 0.946376 0.8967 0.6096 1.000 P -1.006 T Likely benign 21_40585331_AAGCCAACATTTTCTTCACTTT->- 21 40585331 40585352 AAGCCAACATTTTCTTCACTTT - indel 5303.73 0/1 99 45 21 24 0.53 intronic rs142696785 BRWD1 AU NM_018963 exon10 c.26455-75_26455-54delAAGCCAACATTTTCTTCACTTT 0.48123 0.4395 Uncertain 21_40587003_-->C 21 40587003 40587003 - C indel 280.77 1/1 21 7 0 7 1.0 intronic rs11434832 BRWD1 AU NM_018963 exon11 c.28211-159insC 1 1 Uncertain 21_40587049_A->G 21 40587049 40587049 A G snp 57.77 0/1 86 17 11 6 0.35 intronic rs4818004 BRWD1 AU NM_018963 exon11 c.28211-113A>G 0.852436 0.6091 Uncertain 21_40597215_-->AAG 21 40597215 40597215 - AAG indel 1594.73 0/1 99 57 22 35 0.61 intronic rs139986112 BRWD1 AU NM_018963 exon15 c.38172+92insAAG Uncertain 21_40600313_T->C 21 40600313 40600313 T C snp 185.77 0/1 99 19 9 10 0.53 intronic rs11702268 BRWD1 AU NM_018963 exon16 c.41474-112T>C 0.850639 0.6081 Uncertain 21_40610274_G->T 21 40610274 40610274 G T snp 56.74 1/1 6 2 0 2 1.0 intronic rs2065312 BRWD1 AU NM_018963 exon21 c.51453-130G>T 1 1 Uncertain 21_40642189_C->T 21 40642189 40642189 C T snp 752.77 0/1 99 58 28 30 0.52 intronic rs6517532 BRWD1 AU NM_018963 exon29 c.83257-19C>T 0.851038 0.6081 0.946179 0.8973 0.6118 Uncertain 21_40648241_C->T 21 40648241 40648241 C T snp 421.77 0/1 99 36 17 19 0.53 intronic rs35200633 BRWD1 AU NM_018963 exon31 c.89188+102C>T 0.128994 0.2054 Uncertain 21_40648265_G->A 21 40648265 40648265 G A snp 447.77 0/1 99 28 11 17 0.61 intronic rs2836969 BRWD1 AU NM_018963 exon31 c.89188+126G>A 0.612819 0.5714 Uncertain 21_40650621_G->A 21 40650621 40650621 G A snp 257.77 0/1 99 32 17 15 0.47 intronic rs973521 BRWD1 AU NM_018963 exon33 c.91717-47G>A 0.847843 0.6081 0.943734 0.8959 0.6105 Uncertain 21_40652040_A->C 21 40652040 40652040 A C snp 1354.77 0/1 99 105 47 58 0.55 intronic rs2836971 BRWD1 AU NM_018963 exon34 c.93122-33A>C 0.61262 0.5714 0.594879 0.6363 0.6036 Uncertain 21_40670460_G->C 21 40670460 40670460 G C snp 1170.77 0/1 99 121 64 57 0.47 exonic rs2056844 BRWD1 AU nonsynonymous SNV NM_018963 exon5 c.C247G p.Q83E 0.478435 0.4355 0.457250 0.4843 0.4402 0.42 T 0.015 P -1.013 T 0.504 P 0.227 P Pathogenic 21_40684641_C->G 21 40684641 40684641 C G snp 62.74 1/1 6 4 0 4 1.0 intronic rs2272578 BRWD1 AU NM_018963 exon39 c.125815-125C>G 0.82508 0.5863 Uncertain 21_40684975_C->T 21 40684975 40684975 C T snp 127.77 0/1 71 10 4 6 0.6 intronic rs35687055 BRWD1 AU NM_018963 exon40 c.126046-22C>T 0.366414 0.2401 0.306139 0.4873 0.3197 Uncertain 21_40685239_A->G 21 40685239 40685239 A G snp 474.77 0/1 99 49 28 21 0.43 intronic rs34240248 BRWD1 AU NM_018963 exon41 c.126274+14A>G 0.633586 0.5506 0.603143 0.6139 0.5530 Uncertain 21_40685246_A->G 21 40685246 40685246 A G snp 444.77 0/1 99 49 29 20 0.41 intronic rs34436313 BRWD1 AU NM_018963 exon41 c.126274+21A>G 0.623203 0.5506 0.588226 0.6044 0.5439 Uncertain 21_40685284_A->C 21 40685284 40685284 A C snp 424.77 0/1 99 43 24 19 0.44 intronic rs35182074 BRWD1 AU NM_018963 exon41 c.126274+59A>C 0.622404 0.5516 Uncertain 21_40685516_CGC->- 21 40685516 40685518 CGC - indel 203.73 0/1 34 12 1 11 0.92 UTR5 rs148082602 BRWD1 AU 0.46246 0.2421 Uncertain 21_40686020_C->T 21 40686020 40686020 C T snp 2842.77 0/1 99 250 139 111 0.44 ncRNA_exonic rs35994303 BRWD1-IT2 AU 0.470248 0.4157 0.4976 0.4394 Uncertain 21_40686078_G->C 21 40686078 40686078 G C snp 2885.77 0/1 99 248 137 111 0.45 ncRNA_exonic rs9981301 BRWD1-IT2 AU 0.632388 0.5506 0.6204 0.6119 0 D 0.0 P -0.986 T Uncertain 21_40686327_T->C 21 40686327 40686327 T C snp 1325.77 0/1 99 115 58 57 0.5 ncRNA_exonic rs4624474 BRWD1-IT2 AU 0.630391 0.5536 0.6522 0.6328 0 D 0.0 P -0.976 T Uncertain 21_40715132_G->A 21 40715132 40715132 G A snp 497.77 0/1 99 40 21 19 0.47 intronic rs2070867 HMGN1 AU NM_004965 exon1 c.48+47G>A 0.853634 0.6131 0.940181 0.8916 0.6131 Uncertain 21_40762568_G->A 21 40762568 40762568 G A snp 531.77 0/1 99 42 21 21 0.5 intronic rs75577140 WRB AU NM_004627 exon2 c.10313-55G>A 0.0527157 0.2351 Uncertain 21_40763895_T->C 21 40763895 40763895 T C snp 593.77 1/1 45 16 0 16 1.0 intronic rs2837001 WRB AU NM_004627 exon3 c.11452+133T>C 0.697085 0.7748 Uncertain 21_40769017_G->T 21 40769017 40769017 G T snp 430.77 1/1 33 12 0 12 1.0 UTR3 rs1060180 WRB AU 0.660144 0.7748 Uncertain 21_40799955_A->C 21 40799955 40799955 A C snp 94.28 1/1 9 4 0 4 1.0 intronic rs2837028 LCA5L AU NM_152505 exon7 c.22290-142A>C 0.770567 0.7034 Uncertain 21_40823981_G->A 21 40823981 40823981 G A snp 5472.77 1/1 99 198 0 198 1.0 exonic rs6517549 SH3BGR AU nonsynonymous SNV NM_007341 exon1 c.G148A p.D50N 0.989816 1 0.977703 0.9788 1 1 T 0.0 P -0.972 T 0.0 T 0.0 T Pathogenic 21_40847249_T->G 21 40847249 40847249 T G snp 2277.77 1/1 99 76 0 76 1.0 intronic rs760284 SH3BGR AU NM_007341 exon3 c.23308+108T>G 0.876198 0.8224 Uncertain 21_40871810_T->C 21 40871810 40871810 T C snp 1831.77 1/1 99 67 0 67 1.0 exonic rs9974333 SH3BGR AU nonsynonymous SNV NM_001001713 exon4 c.T230C p.V77A 0.550919 0.6905 0.506074 0.5566 0.6865 1 T 0.0 P -0.936 T 0.0 T 0.0 T Pathogenic 21_40880882_TTGAA->- 21 40880882 40880886 TTGAA - indel 2818.73 1/1 99 36 0 36 1.0 intronic rs138818478 SH3BGR AU NM_007341 exon5 c.57091-42_57091-38delTTGAA 0.432109 0.6895 0.367527 0.5056 0.6812 Uncertain 21_40883671_-->AGA 21 40883671 40883671 - AGA indel 3312.73 1/1 99 59 0 59 1.0 exonic rs111921581 SH3BGR AU nonframeshift insertion NM_001001713 exon6 c.356_357insAGA p.G119delinsGE 0.551597 0.5921 0.6862 Uncertain 21_40969826_G->C 21 40969826 40969826 G C snp 5608.77 1/1 99 200 0 200 1.0 ncRNA_exonic rs662571 B3GALT5-AS1 AU 0.999401 1 0.998905 0.9995 1 0.99 T 0.0 P -0.961 T Uncertain 21_41032740_T->C 21 41032740 41032740 T C snp 2192.77 0/1 99 175 86 89 0.51 exonic rs3746887 B3GALT5 AU nonsynonymous SNV NM_001278650 exon3 c.T254C p.M85T 0.653355 0.6508 0.685068 0.7577 0.6571 0.6 T 0.0 P -0.993 T 0.001 T 0.002 T Pathogenic 21_41032804_G->A 21 41032804 41032804 G A snp 1840.77 0/1 99 154 79 75 0.49 exonic rs734413 B3GALT5 AU synonymous SNV NM_001278650 exon3 c.G318A p.T106T 0.629393 0.6468 0.662540 0.7511 0.6550 Uncertain 21_41117368_G->A 21 41117368 41117368 G A snp 184.77 0/1 99 19 11 8 0.42 UTR5 rs403527 IGSF5 AU 0.680511 0.6786 Uncertain 21_41117533_T->C 21 41117533 41117533 T C snp 519.77 0/1 99 37 11 26 0.7 intronic rs425320 IGSF5 AU NM_001080444 exon1 c.17+80T>C 0.773562 0.6806 0.816470 Uncertain 21_41117583_T->C 21 41117583 41117583 T C snp 187.77 0/1 99 21 13 8 0.38 intronic rs74386924 IGSF5 AU NM_001080444 exon1 c.17+130T>C 0.0866613 0.2897 Uncertain 21_41137362_A->C 21 41137362 41137362 A C snp 1200.77 1/1 87 39 0 39 1.0 intronic rs9784201 IGSF5 AU NM_001080444 exon3 c.20025-99A>C 0.659545 0.7292 Uncertain 21_41137499_A->G 21 41137499 41137499 A G snp 2950.77 0/1 99 239 119 120 0.5 exonic rs12626544 IGSF5 AU synonymous SNV NM_001080444 exon3 c.A138G p.Q46Q 0.395966 0.4702 0.304782 0.3947 0.4556 Uncertain 21_41137507_G->C 21 41137507 41137507 G C snp 6688.77 1/1 99 249 0 249 1.0 exonic rs2205204 IGSF5 AU nonsynonymous SNV NM_001080444 exon3 c.G146C p.R49T 0.659545 0.7292 0.645010 0.7144 0.6899 1 T 0.0 P -0.928 T 0.0 T 0.0 T Pathogenic 21_41142775_A->G 21 41142775 41142775 A G snp 56.74 1/1 6 2 0 2 1.0 intronic rs73217279 IGSF5 AU NM_001080444 exon4 c.25406-67A>G 0.254593 0.2609 Uncertain 21_41142803_T->C 21 41142803 41142803 T C snp 140.77 0/1 99 13 8 5 0.38 intronic rs2837199 IGSF5 AU NM_001080444 exon4 c.25406-39T>C 0.254593 0.2609 0.330078 0.3256 0.2433 Uncertain 21_41142937_C->A 21 41142937 41142937 C A snp 550.77 0/1 99 61 36 25 0.41 exonic IGSF5 AU synonymous SNV NM_001080444 exon4 c.C513A p.L171L Uncertain 21_41160242_A->G 21 41160242 41160242 A G snp 1131.77 1/1 81 39 0 39 1.0 intronic rs456818 IGSF5 AU NM_001080444 exon6 c.42679+127A>G 0.764177 0.6944 Uncertain 21_41165301_A->G 21 41165301 41165301 A G snp 704.77 1/1 54 20 0 20 1.0 intronic rs464574 IGSF5 AU NM_001080444 exon8 c.48024-159A>G 0.764177 0.6944 Uncertain 21_41165418_G->A 21 41165418 41165418 G A snp 2621.77 0/1 99 245 134 111 0.45 intronic rs16998521 IGSF5 AU NM_001080444 exon8 c.48024-42G>A 0.115815 0.1647 0.086652 0.0975 0.1542 Uncertain 21_41165462_C->A 21 41165462 41165462 C A snp 3445.77 0/1 99 250 114 136 0.54 exonic rs2837225 IGSF5 AU nonsynonymous SNV NM_001080444 exon8 c.C1050A p.D350E 0.450479 0.4802 0.361295 0.3645 0.4597 1 T 0.0 P -0.940 T 0.0 T 0.0 T Pathogenic 21_41165566_T->C 21 41165566 41165566 T C snp 2525.77 0/1 99 230 121 109 0.47 intronic rs460504 IGSF5 AU NM_001080444 exon8 c.48104+26T>C 0.309305 0.2143 0.427572 0.4165 0.1973 Uncertain 21_41165677_G->A 21 41165677 41165677 G A snp 1095.77 1/1 84 31 0 31 1.0 intronic rs463903 IGSF5 AU NM_001080444 exon8 c.48104+137G>A 0.701677 0.6935 Uncertain 21_41297796_G->A 21 41297796 41297796 G A snp 830.77 1/1 63 22 0 22 1.0 intronic rs2037919 PCP4 AU NM_006198 exon3 c.61481-3112G>A 0.460064 0.4851 Uncertain 21_41297873_G->A 21 41297873 41297873 G A snp 4990.77 1/1 99 164 0 164 1.0 intronic rs2037920 PCP4 AU NM_006198 exon3 c.61481-3035G>A 0.448283 0.4851 Uncertain 21_41297992_C->T 21 41297992 41297992 C T snp 6874.77 1/1 99 250 0 250 1.0 intronic rs2037921 PCP4 AU NM_006198 exon3 c.61481-2916C>T 0.463658 0.4841 0.4919 0.4328 Uncertain 21_41434671_T->C 21 41434671 41434671 T C snp 682.77 1/1 51 22 0 22 1.0 intronic rs2837408 DSCAM AU NM_001271534 exon6 c.49835-124T>C 0.616414 0.6915 Uncertain 21_41450573_C->T 21 41450573 41450573 C T snp 683.77 1/1 51 17 0 17 1.0 intronic rs2297259 DSCAM AU NM_001271534 exon8 c.65653-40C>T 0.149361 0.1131 0.158140 0.1090 0.1353 Uncertain 21_41455854_G->A 21 41455854 41455854 G A snp 675.77 0/1 99 59 32 27 0.46 exonic rs2297263 DSCAM AU synonymous SNV NM_001389 exon24 c.C4212T p.N1404N 0.0770767 0.1548 0.065496 0.0471 0.1188 Uncertain 21_41506058_A->G 21 41506058 41506058 A G snp 253.77 0/1 99 20 11 9 0.45 intronic rs403892 DSCAM AU NM_001271534 exon15 c.120976+122A>G 0.291334 0.2371 Uncertain 21_41514689_A->- 21 41514689 41514689 A - indel 699.73 0/1 99 47 22 25 0.53 intronic rs35155500 DSCAM AU NM_001271534 exon16 c.129671+58delA 0.736821 0.7599 Uncertain 21_41516366_G->A 21 41516366 41516366 G A snp 951.77 1/1 69 29 0 29 1.0 intronic rs2297266 DSCAM AU NM_001271534 exon17 c.131457-51G>A 0.429712 0.5962 0.402686 Uncertain 21_41559182_G->A 21 41559182 41559182 G A snp 1858.77 0/1 99 142 66 76 0.54 exonic rs2297267 DSCAM AU synonymous SNV NM_001389 exon14 c.C2655T p.P885P 0.0421326 0.127 0.015758 0.0292 0.1173 Uncertain 21_41667909_A->G 21 41667909 41667909 A G snp 816.77 0/1 99 60 29 31 0.52 intronic rs28581227 DSCAM AU NM_001271534 exon24 c.283021-72A>G 0.105831 0.2153 Uncertain 21_41668217_C->T 21 41668217 41668217 C T snp 764.77 1/1 60 22 0 22 1.0 intronic rs3818651 DSCAM AU NM_001271534 exon24 c.283141+116C>T 0.273363 0.3313 Uncertain 21_41668237_C->T 21 41668237 41668237 C T snp 165.77 0/1 99 13 7 6 0.46 intronic rs77937644 DSCAM AU NM_001271534 exon24 c.283141+136C>T 0.091853 0.2143 Uncertain 21_41684090_C->T 21 41684090 41684090 C T snp 1683.77 0/1 99 150 79 71 0.47 exonic rs34336407 DSCAM AU synonymous SNV NM_001389 exon9 c.G1980A p.S660S 0.0798722 0.1181 0.070196 0.0759 0.1003 Uncertain 21_42080840_G->C 21 42080840 42080840 G C snp 358.77 0/1 51 14 3 11 0.79 intronic rs2205135 DSCAM AU NM_001271534 exon32 c.695737+143G>C 0.325679 0.2956 Uncertain 21_42622657_G->C 21 42622657 42622657 G C snp 1681.77 1/1 99 58 0 58 1.0 intronic rs960231 BACE2 AU NM_138992 exon7 c.82488-21G>C 0.806909 0.9226 0.710826 0.7155 0.9276 Uncertain 21_42622786_C->T 21 42622786 42622786 C T snp 3658.77 1/1 99 143 0 143 1.0 exonic rs1046210 BACE2 AU synonymous SNV NM_012105 exon7 c.C1092T p.D364D 0.41893 0.6865 0.301322 0.4390 0.6992 Uncertain 21_42710536_T->C 21 42710536 42710536 T C snp 35.77 0/1 64 7 5 2 0.29 intronic rs141003820 FAM3B AU NM_058186 exon3 c.21622+108T>C 0.00459265 0.0218 Uncertain 21_42717662_T->C 21 42717662 42717662 T C snp 1457.77 1/1 99 58 0 58 1.0 exonic rs417708 FAM3B AU synonymous SNV NM_206964 exon4 c.T252C p.G84G 0.911542 0.9177 0.887437 0.8747 0.9213 Uncertain 21_42749189_A->G 21 42749189 42749189 A G snp 83.78 0/1 24 4 1 3 0.75 intronic rs379839 MX2 AU NM_002463 exon2 c.249+107A>G 0.59405 0.4187 Uncertain 21_42767733_T->C 21 42767733 42767733 T C snp 866.77 1/1 63 34 0 34 1.0 intronic rs440364 MX2 AU NM_002463 exon7 c.18879+21T>C 0.853035 0.9702 0.827695 0.8827 0.9693 Uncertain 21_42773822_T->C 21 42773822 42773822 T C snp 1257.77 0/1 99 106 56 50 0.47 intronic rs73905358 MX2 AU NM_002463 exon11 c.25063-74T>C 0.0529153 0.12 Uncertain 21_42775179_-->T 21 42775179 42775179 - T indel 787.73 1/1 98 55 1 54 0.98 intronic rs112479250 MX2 AU NM_002463 exon12 c.26360-14insT 0.630791 0.5873 0.7543 0.6105 Uncertain 21_42775180_C->T 21 42775180 42775180 C T snp 1770.77 1/1 99 57 0 57 1.0 intronic rs459763 MX2 AU NM_002463 exon12 c.26360-13C>T 0.917931 0.9762 0.9058 0.9722 Uncertain 21_42775555_A->G 21 42775555 42775555 A G snp 4262.77 1/1 99 163 0 163 1.0 intronic rs462161 MX2 AU NM_002463 exon12 c.26437+285A>G 1 1 1 1 0 D 0.0 P -1.053 T Uncertain 21_42775687_C->T 21 42775687 42775687 C T snp 1629.77 0/1 99 134 65 69 0.51 intronic rs73905359 MX2 AU NM_002463 exon12 c.26437+417C>T 0.0898562 0.1756 Uncertain 21_42803840_C->T 21 42803840 42803840 C T snp 935.77 1/1 69 28 0 28 1.0 intronic rs456657 MX1 AU 0.78774 0.9901 Uncertain 21_42803858_A->G 21 42803858 42803858 A G snp 1276.77 1/1 93 39 0 39 1.0 intronic rs463856 MX1 AU 0.78754 0.9901 Uncertain 21_42808015_A->G 21 42808015 42808015 A G snp 1124.77 0/1 99 101 55 46 0.46 intronic rs468207 MX1 AU NM_001282920 exon2 c.3959+59A>G 0.604233 0.4583 Uncertain 21_42816016_A->G 21 42816016 42816016 A G snp 99.28 1/1 9 4 1 3 0.75 intronic rs469066 MX1 AU NM_001282920 exon7 c.11796+223A>G 0.625799 0.4444 Uncertain 21_42817354_T->C 21 42817354 42817354 T C snp 1665.77 0/1 99 136 66 70 0.51 intronic rs35870315 MX1 AU NM_001282920 exon8 c.13377-20T>C 0.122804 0.1558 0.090881 0.1275 0.1655 Uncertain 21_42821113_T->C 21 42821113 42821113 T C snp 853.77 0/1 99 84 44 40 0.48 exonic rs2070229 MX1 AU synonymous SNV NM_002462 exon14 c.T1323C p.R441R 0.33766 0.2381 0.371982 0.2947 0.2504 Uncertain 21_42821265_A->G 21 42821265 42821265 A G snp 501.77 0/1 99 49 28 21 0.43 intronic rs2280807 MX1 AU NM_001144925 exon16 c.17225+43A>G 0.179712 0.254 0.144472 0.1688 0.2793 Uncertain 21_42822983_G->A 21 42822983 42822983 G A snp 638.77 1/1 48 23 0 23 1.0 intronic rs1050080 MX1 AU NM_001144925 exon17 c.19096-110G>A 0.516973 0.4921 Uncertain 21_42824449_C->T 21 42824449 42824449 C T snp 80.77 0/1 99 7 3 4 0.57 intronic rs2072683 MX1 AU NM_001144925 exon18 c.20550-98C>T 0.134385 0.1587 Uncertain 21_42824661_A->G 21 42824661 42824661 A G snp 1046.77 0/1 99 100 56 44 0.44 exonic rs1050008 MX1 AU synonymous SNV NM_002462 exon16 c.A1623G p.A541A 0.261781 0.4474 0.166077 0.2053 0.4594 Uncertain 21_42838004_C->T 21 42838004 42838004 C T snp 1893.77 0/1 99 203 110 93 0.46 UTR3 rs141230106 TMPRSS2 AU 0.00119808 0.005 0.000657 Uncertain 21_42840580_T->C 21 42840580 42840580 T C snp 158.77 0/1 99 11 5 6 0.55 intronic rs462321 TMPRSS2 AU NM_001135099 exon3 c.2397+115T>C 0.578075 0.2589 Uncertain 21_42840595_G->C 21 42840595 42840595 G C snp 164.78 0/1 24 7 1 6 0.86 intronic rs462326 TMPRSS2 AU NM_001135099 exon3 c.2397+130G>C 0.573083 0.2589 Uncertain 21_42842713_-->CTAAGGCCTCGGG 21 42842713 42842713 - CTAAGGCCTCGGG indel 13683.7 1/1 99 93 0 93 1.0 intronic rs112132031 TMPRSS2 AU NM_001135099 exon4 c.4602+43insCTAAGGCCTCGGG 0.829872 0.6508 0.9112 0.6550 Uncertain 21_42842771_C->G 21 42842771 42842771 C G snp 171.77 0/1 99 17 10 7 0.41 intronic rs28524972 TMPRSS2 AU NM_001135099 exon4 c.4602+101C>G 0.287141 0.249 Uncertain 21_42843960_A->G 21 42843960 42843960 A G snp 1108.77 1/1 84 37 0 37 1.0 intronic rs464431 TMPRSS2 AU NM_001135099 exon5 c.5840+52A>G 0.873802 0.6508 0.986799 0.9259 0.6625 Uncertain 21_42845374_G->A 21 42845374 42845374 G A snp 1056.77 0/1 99 89 37 52 0.58 exonic rs2298659 TMPRSS2 AU synonymous SNV NM_001135099 exon9 c.C888T p.G296G 0.209465 0.249 0.206734 0.2554 0.2883 Uncertain 21_42845383_A->G 21 42845383 42845383 A G snp 1016.77 0/1 99 93 46 47 0.51 exonic rs17854725 TMPRSS2 AU synonymous SNV NM_001135099 exon9 c.T879C p.I293I 0.366214 0.121 0.493191 0.4967 0.1512 Uncertain 21_42848561_AG->- 21 42848561 42848562 AG - indel 6211.73 1/1 99 119 0 119 1.0 intronic rs140530035 TMPRSS2 AU NM_001135099 exon7 c.10479+14_10479+15delAG 0.813299 0.6548 0.914576 0.9059 0.6645 Uncertain 21_42848684_C->T 21 42848684 42848684 C T snp 141.77 0/1 99 14 8 6 0.43 intronic rs9985159 TMPRSS2 AU NM_001135099 exon7 c.10479+137C>T 0.334665 0.3978 Uncertain 21_42850911_C->T 21 42850911 42850911 C T snp 518.77 0/1 99 30 12 18 0.6 intronic rs9974995 TMPRSS2 AU NM_001135099 exon8 c.13030-187C>T 0.260982 0.2569 Uncertain 21_42850977_A->G 21 42850977 42850977 A G snp 1425.77 0/1 99 98 45 53 0.54 intronic rs9974933 TMPRSS2 AU NM_001135099 exon8 c.13030-121A>G 0.261581 0.2569 Uncertain 21_42851006_A->G 21 42851006 42851006 A G snp 2080.77 0/1 99 153 70 83 0.54 intronic rs9975014 TMPRSS2 AU NM_001135099 exon8 c.13030-92A>G 0.26238 0.2569 Uncertain 21_42852497_C->T 21 42852497 42852497 C T snp 1783.77 0/1 99 215 132 83 0.39 exonic rs12329760 TMPRSS2 AU nonsynonymous SNV NM_001135099 exon6 c.G589A p.V197M 0.261382 0.3621 0.241350 0.2502 0.3820 0.02 T 0.923 P -1.061 T 0.999 D 0.938 D Pathogenic 21_42860307_C->T 21 42860307 42860307 C T snp 441.77 0/1 99 43 23 20 0.47 intronic rs422471 TMPRSS2 AU NM_001135099 exon10 c.22252-13C>T 0.554712 0.3006 0.667307 0.6240 0.2832 Uncertain 21_42860485_G->C 21 42860485 42860485 G C snp 753.77 0/1 99 66 33 33 0.5 intronic rs386416 TMPRSS2 AU NM_001135099 exon10 c.22372+45G>C 0.555112 0.3016 0.666949 0.6287 0.2921 Uncertain 21_42860593_C->T 21 42860593 42860593 C T snp 148.77 0/1 99 17 10 7 0.41 intronic rs3787947 TMPRSS2 AU NM_001135099 exon10 c.22372+153C>T 0.307109 0.2897 Uncertain 21_42861332_C->T 21 42861332 42861332 C T snp 385.77 0/1 99 28 16 12 0.43 intronic rs429442 TMPRSS2 AU NM_001135099 exon11 c.23365-101C>T 0.279553 0.2946 Uncertain 21_43133198_C->T 21 43133198 43133198 C T snp 737.77 0/1 99 55 26 29 0.53 ncRNA_intronic rs62214243 LINC00479 AU 0.204473 0.2619 0.163601 0.1453 0.2287 Uncertain 21_43133242_A->T 21 43133242 43133242 A T snp 356.78 1/1 27 12 0 12 1.0 ncRNA_intronic rs58060925 LINC00479 AU 0.446885 0.6984 Uncertain 21_43133244_T->- 21 43133244 43133244 T - indel 116.8 1/1 18 12 0 12 1.0 ncRNA_intronic rs58333771 LINC00479 AU 0.344649 0.6359 Uncertain 21_43133246_T->A 21 43133246 43133246 T A snp 70.77 0/1 99 12 8 4 0.33 ncRNA_intronic rs56830469 LINC00479 AU Uncertain 21_43133247_T->A 21 43133247 43133247 T A snp 97.77 0/1 99 12 8 4 0.33 ncRNA_intronic rs60605755 LINC00479 AU 0.298722 0.4246 Uncertain 21_43133248_T->A 21 43133248 43133248 T A snp 70.77 0/1 99 12 8 4 0.33 ncRNA_intronic rs113237601 LINC00479 AU 0.344649 0.6359 Uncertain 21_43161022_C->T 21 43161022 43161022 C T snp 1121.77 1/1 84 34 0 34 1.0 exonic rs7276592 RIPK4 AR synonymous SNV NM_020639 exon8 c.G2331A p.T777T 0.445487 0.5933 0.387112 0.4531 0.6074 Uncertain 21_43161357_T->C 21 43161357 43161357 T C snp 5314.77 1/1 99 178 0 178 1.0 exonic rs3746891 RIPK4 AR nonsynonymous SNV NM_020639 exon8 c.A1996G p.M666V 0.956869 0.9107 0.980160 0.9652 0.9132 0.59 T 0.0 P -1.014 T 0.0 T 0.0 T Pathogenic 21_43161805_G->A 21 43161805 43161805 G A snp 7324.77 1/1 99 250 0 250 1.0 exonic rs2838113 RIPK4 AR synonymous SNV NM_020639 exon8 c.C1548T p.D516D 0.53095 0.6071 0.514378 0.6020 0.6189 Uncertain 21_43161877_C->T 21 43161877 43161877 C T snp 7332.77 1/1 99 248 0 248 1.0 exonic rs3746893 RIPK4 AR synonymous SNV NM_020639 exon8 c.G1476A p.A492A 0.440096 0.5704 0.398816 0.4434 0.5931 Uncertain 21_43162150_G->A 21 43162150 43162150 G A snp 3612.77 1/1 99 131 0 131 1.0 exonic rs3746894 RIPK4 AR synonymous SNV NM_020639 exon8 c.C1203T p.G401G 0.440096 0.5714 0.395490 0.4517 0.5963 Uncertain 21_43162200_T->C 21 43162200 43162200 T C snp 2565.77 1/1 99 88 0 88 1.0 intronic rs3746895 RIPK4 AR NM_020639 exon1 c.1160+43T>C 0.569888 0.6141 0.532248 0.5137 0.6500 Uncertain 21_43164232_C->A 21 43164232 43164232 C A snp 1428.77 1/1 99 52 0 52 1.0 exonic rs2277789 RIPK4 AR synonymous SNV NM_020639 exon7 c.G1005T p.L335L 0.384185 0.4772 0.362909 0.4126 0.5158 Uncertain 21_43164345_A->C 21 43164345 43164345 A C snp 375.77 1/1 30 12 0 12 1.0 intronic rs2277790 RIPK4 AR NM_020639 exon2 c.3303+45A>C 0.682708 0.6062 0.722088 0.6931 0.6250 Uncertain 21_43221483_A->G 21 43221483 43221483 A G snp 4260.77 1/1 99 151 0 151 1.0 exonic rs3850706 PRDM15 AU nonsynonymous SNV NM_001040424 exon24 c.T3454C p.S1152P 0.998403 1 0.994925 0.9970 0.9997 1 T 0.000 P -0.980 T 0.0 T 0.0 T Pathogenic 21_43221555_G->A 21 43221555 43221555 G A snp 2432.77 0/1 99 232 124 108 0.47 exonic rs2236694 PRDM15 AU synonymous SNV NM_001040424 exon24 c.C3382T p.L1128L 0.0996406 0.1558 0.074120 0.0978 0.1609 Uncertain 21_43221826_T->C 21 43221826 43221826 T C snp 3412.77 1/1 99 115 0 115 1.0 exonic rs2236696 PRDM15 AU synonymous SNV NM_001040424 exon24 c.A3111G p.L1037L 0.788339 0.7718 0.789789 0.7472 0.7693 Uncertain 21_43221983_C->T 21 43221983 43221983 C T snp 327.77 0/1 99 20 9 11 0.55 intronic rs2236697 PRDM15 AU NM_001282934 exon1 c.483+101C>T 0.275559 0.3313 Uncertain 21_43222075_A->G 21 43222075 43222075 A G snp 50.74 1/1 6 2 0 2 1.0 intronic rs4919945 PRDM15 AU NM_001282934 exon1 c.483+193A>G 0.998403 1 Uncertain 21_43222779_A->G 21 43222779 43222779 A G snp 583.77 0/1 99 54 33 21 0.39 intronic rs2838128 PRDM15 AU NM_001282934 exon2 c.1472-92A>G 0.755192 0.7579 Uncertain 21_43224683_A->G 21 43224683 43224683 A G snp 915.77 0/1 99 96 54 42 0.44 intronic rs2298687 PRDM15 AU NM_001282934 exon3 c.3294-10A>G 0.770767 0.7758 0.768576 0.7474 0.7832 Uncertain 21_43231296_A->T 21 43231296 43231296 A T snp 1449.77 0/1 99 125 66 59 0.47 intronic rs28461265 PRDM15 AU NM_001282934 exon5 c.9793+104A>T 0.328075 0.245 Uncertain 21_43231342_C->T 21 43231342 43231342 C T snp 639.77 0/1 99 44 22 22 0.5 intronic rs28484650 PRDM15 AU NM_001282934 exon5 c.9793+150C>T 0.328075 0.245 Uncertain 21_43236252_A->G 21 43236252 43236252 A G snp 3844.77 1/1 99 134 0 134 1.0 intronic rs28657504 PRDM15 AU NM_001282934 exon6 c.14793+60A>G 1 1 Uncertain 21_43239972_A->G 21 43239972 43239972 A G snp 1963.77 0/1 99 196 109 87 0.44 exonic rs28477638 PRDM15 AU synonymous SNV NM_001040424 exon18 c.T2337C p.N779N 0.842851 0.7103 0.904121 0.8741 0.7121 Uncertain 21_43243585_A->G 21 43243585 43243585 A G snp 1052.77 0/1 99 112 65 47 0.42 intronic rs28545527 PRDM15 AU NM_001282934 exon11 c.22274-88A>G 0.621805 0.4385 0.7202 0.5534 Uncertain 21_43243902_G->A 21 43243902 43243902 G A snp 125.78 0/1 25 5 1 4 0.8 intronic rs28702408 PRDM15 AU NM_001282934 exon11 c.22406+97G>A 0.384784 0.5685 Uncertain 21_43246223_C->T 21 43246223 43246223 C T snp 699.77 0/1 99 59 32 27 0.46 intronic rs28559700 PRDM15 AU NM_001282934 exon12 c.24916-92C>T 0.741014 0.6766 Uncertain 21_43246495_T->G 21 43246495 43246495 T G snp 1316.77 0/1 99 98 51 47 0.48 intronic rs28473463 PRDM15 AU NM_001282934 exon12 c.25011+85T>G 0.226438 0.247 Uncertain 21_43248418_A->G 21 43248418 43248418 A G snp 44.74 1/1 6 2 0 2 1.0 intronic rs28655031 PRDM15 AU NM_001282934 exon13 c.27122-103A>G 0.702676 0.6766 Uncertain 21_43254410_C->T 21 43254410 43254410 C T snp 180.77 0/1 99 12 6 6 0.5 intronic rs4920071 PRDM15 AU NM_001282934 exon14 c.33214-203C>T 0.54353 0.4266 Uncertain 21_43254426_G->C 21 43254426 43254426 G C snp 378.77 0/1 99 31 19 12 0.39 intronic rs11910698 PRDM15 AU NM_001282934 exon14 c.33214-187G>C 0.54353 0.4266 Uncertain 21_43254463_A->G 21 43254463 43254463 A G snp 1183.77 0/1 99 94 48 46 0.49 intronic rs2839388 PRDM15 AU NM_001282934 exon14 c.33214-150A>G 0.812101 0.7212 Uncertain 21_43255359_G->C 21 43255359 43255359 G C snp 751.77 0/1 99 67 41 26 0.39 intronic rs2839391 PRDM15 AU NM_001282934 exon15 c.34146-186G>C 0.48742 0.4335 Uncertain 21_43255509_C->T 21 43255509 43255509 C T snp 2909.77 0/1 99 250 128 122 0.49 intronic rs2839392 PRDM15 AU NM_001282934 exon15 c.34146-36C>T 0.443291 0.5585 0.455251 0.4201 0.5707 Uncertain 21_43255727_T->G 21 43255727 43255727 T G snp 649.77 0/1 99 46 21 25 0.54 intronic rs2839393 PRDM15 AU NM_001282934 exon15 c.34234+94T>G 0.549121 0.4534 Uncertain 21_43256082_A->G 21 43256082 43256082 A G snp 81.81 0/1 20 5 1 4 0.8 intronic rs8132216 PRDM15 AU NM_001282934 exon16 c.34822-139A>G 0.45607 0.378 Uncertain 21_43256252_C->T 21 43256252 43256252 C T snp 1540.77 0/1 99 155 86 69 0.45 exonic rs4920098 PRDM15 AU synonymous SNV NM_001040424 exon10 c.G1359A p.Q453Q 0.535743 0.4425 0.553283 0.5836 0.4397 Uncertain 21_43256438_T->A 21 43256438 43256438 T A snp 691.77 0/1 99 39 13 26 0.67 intronic rs4920101 PRDM15 AU NM_001282934 exon16 c.34917+122T>A 0.635383 0.4712 Uncertain 21_43258000_T->C 21 43258000 43258000 T C snp 662.77 0/1 99 52 25 27 0.52 intronic rs8127003 PRDM15 AU NM_001282934 exon18 c.36643-42T>C 0.860423 0.7331 0.924343 0.8884 0.7469 Uncertain 21_43258353_G->A 21 43258353 43258353 G A snp 182.77 0/1 99 15 9 6 0.4 intronic rs6586335 PRDM15 AU NM_001282934 exon18 c.36773+181G>A 0.536142 0.4454 Uncertain 21_43267260_C->T 21 43267260 43267260 C T snp 1599.77 0/1 99 106 41 65 0.61 exonic rs2277793 PRDM15 AU synonymous SNV NM_001040424 exon6 c.G690A p.E230E 0.615415 0.4742 0.654511 0.6564 0.5395 Uncertain 21_43277279_-->T 21 43277279 43277279 - T indel 1694.73 0/1 99 99 46 53 0.54 splicing rs3833355 PRDM15 AU NM_001282934 exon22 c.55885-5insT 0.210863 0.1845 0.248962 0.2416 0.1773 Pathogenic 21_43281651_C->G 21 43281651 43281651 C G snp 41.77 0/1 57 4 2 2 0.5 intronic rs7280316 PRDM15 AU NM_022115 exon25 c.60272-20C>G 0.372404 0.3036 0.367830 0.3604 0.3348 Uncertain 21_43298954_-->G 21 43298954 43298954 - G indel 445.73 1/1 39 17 0 17 1.0 exonic rs202107842 PRDM15 AU frameshift insertion NM_022115 exon3 c.262dupC p.R88fs 1 1 0.995868 1 . Pathogenic 21_43299354_G->C 21 43299354 43299354 G C snp 327.77 0/1 99 48 31 17 0.35 intronic rs141709929 PRDM15 AU NM_001282934 exon25 c.77979-24G>C 0.4414 0.5028 Uncertain 21_43299584_G->A 21 43299584 43299584 G A snp 88.28 1/1 9 3 0 3 1.0 UTR5 rs113834835 PRDM15 AU 0.391374 0.3929 Uncertain 21_43319534_A->C 21 43319534 43319534 A C snp 257.77 0/1 99 34 21 13 0.38 intronic rs511247 C2CD2 AU NM_199050 exon2 c.10239+63A>C 0.460463 0.4008 Uncertain 21_43319605_T->G 21 43319605 43319605 T G snp 87.77 0/1 99 15 11 4 0.27 intronic rs2839416 C2CD2 AU NM_199050 exon2 c.10239+134T>G 0.322284 0.3641 Uncertain 21_43325743_A->- 21 43325743 43325743 A - indel 3521.73 1/1 99 89 0 89 1.0 intronic rs35279709 C2CD2 AU NM_199050 exon4 c.16600-89delA 0.433906 0.3323 Uncertain 21_43327711_G->A 21 43327711 43327711 G A snp 118.78 0/1 27 5 1 4 0.8 intronic rs13433498 C2CD2 AU NM_199050 exon6 c.18536-57G>A 0.141773 0.0754 Uncertain 21_43327856_A->G 21 43327856 43327856 A G snp 1363.77 0/1 99 99 38 61 0.62 exonic rs3746906 C2CD2 AU synonymous SNV NM_199050 exon8 c.T591C p.F197F 0.607428 0.5923 0.634323 0.6182 0.5811 Uncertain 21_43327967_C->T 21 43327967 43327967 C T snp 642.77 0/1 99 62 31 31 0.5 intronic rs59585090 C2CD2 AU NM_199050 exon6 c.18661+74C>T 0.0986422 0.0139 Uncertain 21_43328071_G->A 21 43328071 43328071 G A snp 54.74 1/1 6 2 0 2 1.0 intronic rs6586336 C2CD2 AU NM_199050 exon6 c.18661+178G>A 0.685703 0.6071 Uncertain 21_43334669_G->C 21 43334669 43334669 G C snp 170.77 0/1 99 22 15 7 0.32 intronic rs3746907 C2CD2 AU NM_199050 exon9 c.25474-37G>C 0.384784 0.255 0.415577 0.4177 0.2619 Uncertain 21_43334896_A->G 21 43334896 43334896 A G snp 1463.77 1/1 99 49 0 49 1.0 intronic rs3746908 C2CD2 AU NM_199050 exon9 c.25598+66A>G 0.875998 0.6647 Uncertain 21_43338175_C->T 21 43338175 43338175 C T snp 799.77 0/1 99 80 43 37 0.46 intronic rs3827223 C2CD2 AU NM_199050 exon10 c.28981-38C>T 0.199481 0.1548 0.237813 0.2601 0.1589 Uncertain 21_43338400_C->T 21 43338400 43338400 C T snp 301.77 0/1 99 23 10 13 0.57 intronic rs2245036 C2CD2 AU NM_199050 exon10 c.29104+64C>T 0.294329 0.1548 Uncertain 21_43338855_G->C 21 43338855 43338855 G C snp 122.77 0/1 58 6 2 4 0.67 intronic rs12482571 C2CD2 AU NM_199050 exon11 c.29732-109G>C 0.227636 0.1558 Uncertain 21_43338933_A->T 21 43338933 43338933 A T snp 609.77 0/1 99 43 19 24 0.56 intronic rs12483229 C2CD2 AU NM_199050 exon11 c.29732-31A>T 0.227636 0.1558 0.275258 0.2717 0.1629 Uncertain 21_43338948_A->C 21 43338948 43338948 A C snp 762.77 0/1 99 52 22 30 0.58 intronic rs2245127 C2CD2 AU NM_199050 exon11 c.29732-16A>C 0.180312 0.1558 0.220514 0.2558 0.1627 Uncertain 21_43339143_-->TGTG 21 43339143 43339143 - TGTG indel 2554.73 0/1 99 113 53 60 0.53 intronic rs10681050 C2CD2 AU NM_199050 exon11 c.29837+74insTGTG 0.294728 0.1558 Uncertain 21_43339154_T->C 21 43339154 43339154 T C snp 995.77 0/1 99 93 51 42 0.45 intronic rs2277796 C2CD2 AU NM_199050 exon11 c.29837+85T>C 0.295527 0.1558 Uncertain 21_43342046_G->A 21 43342046 43342046 G A snp 1059.77 0/1 99 110 59 51 0.46 intronic rs3746909 C2CD2 AU NM_199050 exon12 c.32848-34G>A 0.221046 0.1538 0.265493 0.2717 0.1658 Uncertain 21_43342272_C->T 21 43342272 43342272 C T snp 65.77 0/1 94 10 7 3 0.3 intronic rs9974090 C2CD2 AU NM_199050 exon12 c.32962+78C>T Uncertain 21_43410840_G->A 21 43410840 43410840 G A snp 383.77 1/1 30 10 0 10 1.0 UTR3 rs3746912 ZBTB21 AU 0.139577 0.5139 Uncertain 21_43413731_C->T 21 43413731 43413731 C T snp 7563.77 1/1 99 245 1 244 1.0 exonic rs915837 ZBTB21 AU synonymous SNV NM_020727 exon2 c.G474A p.A158A 0.691893 0.6637 0.711672 0.6750 0.6900 Uncertain 21_43442385_C->T 21 43442385 43442385 C T snp 1633.77 0/1 99 141 71 70 0.5 ncRNA_exonic rs17114159 ZNF295-AS1 AU 0.17472 0.3532 0.0936 0.4167 Uncertain 21_43495992_G->A 21 43495992 43495992 G A snp 442.77 0/1 99 34 17 17 0.5 intronic rs77485256 UMODL1 AU NM_173568 exon2 c.4688-121G>A 0.0706869 0.1905 Uncertain 21_43504228_T->C 21 43504228 43504228 T C snp 3718.77 1/1 99 141 0 141 1.0 exonic rs7278485 UMODL1 AU synonymous SNV NM_001004416 exon3 c.T354C p.P118P 0.667332 0.5496 0.671983 0.6431 0.5198 Uncertain 21_43505436_G->A 21 43505436 43505436 G A snp 1630.77 0/1 99 135 65 70 0.52 exonic rs73371577 UMODL1 AU nonsynonymous SNV NM_001004416 exon4 c.G517A p.V173I 0.0609026 0.1567 0.018564 0.0434 0.1572 0.01 T 0.433 P -0.919 T 1.0 D 0.966 D Pathogenic 21_43510427_T->C 21 43510427 43510427 T C snp 954.77 0/1 99 76 32 44 0.58 exonic rs67055914 UMODL1 AU synonymous SNV NM_001004416 exon6 c.T810C p.Y270Y 0.300719 0.374 0.221256 0.2566 0.3488 0.0 P -1.007 T Likely benign 21_43510437_A->C 21 43510437 43510437 A C snp 1075.77 0/1 99 79 32 47 0.59 exonic rs17114359 UMODL1 AU nonsynonymous SNV NM_001004416 exon6 c.A820C p.N274H 0.240815 0.374 0.166667 0.2405 0.3488 0.13 T 0.0 P -1.134 T 0.274 T 0.12 T Pathogenic 21_43513989_C->T 21 43513989 43513989 C T snp 2934.77 0/1 99 237 116 121 0.51 intronic rs34421316 UMODL1 AU NM_001199528 exon6 c.14295+3441C>T 0.250998 0.369 0.2759 0.3725 0.02 T 0.0 P -0.996 T Uncertain 21_43529515_G->C 21 43529515 43529515 G C snp 1119.77 1/1 84 31 0 31 1.0 intronic rs220120 UMODL1 AU NM_001199528 exon10 c.33418-156G>C 0.637979 0.7123 Uncertain 21_43531008_T->C 21 43531008 43531008 T C snp 5681.77 1/1 99 210 0 210 1.0 exonic rs220126 UMODL1 AU nonsynonymous SNV NM_001004416 exon11 c.T1676C p.M559T 0.768171 0.8909 0.754743 0.8117 0.8798 1 T 0.0 P -0.966 T 0.0 T 0.0 T Pathogenic 21_43531403_C->G 21 43531403 43531403 C G snp 787.77 1/1 60 25 0 25 1.0 exonic rs220127 UMODL1 AU nonsynonymous SNV NM_001199527 exon11 c.C1855G p.R619G 0.722644 0.881 0.747412 0.8424 0.9116 0.45 T 0.0 P -0.985 T 0.0 T 0.0 T Pathogenic 21_43531632_T->C 21 43531632 43531632 T C snp 7596.77 1/1 99 250 2 248 0.99 exonic rs220129 UMODL1 AU nonsynonymous SNV NM_001199527 exon11 c.T2084C p.I695T 0.780351 0.8621 0.766340 0.8208 0.8595 1 T 0.0 P -0.957 T 0.0 T 0.0 T Pathogenic 21_43531808_A->C 21 43531808 43531808 A C snp 5775.77 1/1 99 197 1 196 0.99 exonic rs220130 UMODL1 AU nonsynonymous SNV NM_001199527 exon11 c.A2260C p.T754P 0.196685 0.1994 0.188236 0.1993 0.1855 0.07 T 0.0 P -1.031 T 0.001 T 0.003 T Pathogenic 21_43533716_A->G 21 43533716 43533716 A G snp 1974.77 0/1 99 183 96 87 0.48 exonic rs774580638 UMODL1 AU nonsynonymous SNV NM_001199527 exon12 c.A2306G p.N769S 8.306e-06 0 0.504 N -0.712 T 0.998 D 0.971 D Pathogenic 21_43539164_C->T 21 43539164 43539164 C T snp 427.77 1/1 33 12 0 12 1.0 intronic rs76209394 UMODL1 AU NM_001199528 exon15 c.42967-56C>T 0.0682907 0.1627 Uncertain 21_43541342_C->T 21 43541342 43541342 C T snp 1100.77 1/1 78 43 0 43 1.0 intronic rs220150 UMODL1 AU NM_001199528 exon16 c.45081+8C>T 0.61901 0.5962 0.610683 0.6360 0.5969 Uncertain 21_43546705_T->C 21 43546705 43546705 T C snp 880.77 1/1 66 25 0 25 1.0 intronic rs220157 UMODL1 AU NM_001199528 exon18 c.50347+105T>C 0.761581 0.5893 Uncertain 21_43547165_G->A 21 43547165 43547165 G A snp 3558.77 1/1 99 134 0 134 1.0 exonic rs80040922 UMODL1 AU nonsynonymous SNV NM_001199527 exon18 c.G3511A p.E1171K 0.0670927 0.1994 0.036075 0.0588 0.2153 0.982 P -1.131 T 1.0 D 0.996 D Pathogenic 21_43547788_T->C 21 43547788 43547788 T C snp 2023.77 1/1 99 69 0 69 1.0 exonic rs220158 UMODL1 AU synonymous SNV NM_001199527 exon19 c.T3705C p.P1235P 0.815296 0.7579 0.877118 0.8748 0.7839 Uncertain 21_43547873_G->A 21 43547873 43547873 G A snp 3295.77 1/1 99 125 0 125 1.0 exonic rs220159 UMODL1 AU nonsynonymous SNV NM_001199527 exon19 c.G3790A p.D1264N 0.357827 0.369 0.337232 0.3655 0.3789 0.0 P -0.977 T 0.001 T 0.003 T Pathogenic 21_43548239_T->C 21 43548239 43548239 T C snp 1783.77 1/1 99 58 0 58 1.0 intronic rs2839470 UMODL1 AU NM_001199528 exon20 c.51688+298T>C 0.512181 0.5813 Uncertain 21_43548389_A->T 21 43548389 43548389 A T snp 56.74 1/1 6 2 0 2 1.0 intronic rs7282431 UMODL1 AU NM_001199528 exon20 c.51688+448A>T 0.105232 0.2024 Uncertain 21_43549809_A->- 21 43549809 43549809 A - indel 3472.73 1/1 99 131 5 126 0.96 intronic rs56804381 UMODL1 AU NM_001199528 exon21 c.53569-13delA 0.176318 0.2272 0.1996 0.3240 Uncertain 21_43549985_T->C 21 43549985 43549985 T C snp 3577.77 1/1 99 125 0 125 1.0 intronic rs6586296 UMODL1 AU NM_001199528 exon21 c.53654+78T>C 0.122005 0.2034 Uncertain 21_43557559_T->A 21 43557559 43557559 T A snp 878.77 0/1 99 63 32 31 0.49 exonic rs3819141 UMODL1 AU synonymous SNV NM_001199527 exon21 c.T3954A p.P1318P 0.335463 0.4097 0.322488 0.3756 0.4046 Uncertain 21_43557698_A->C 21 43557698 43557698 A C snp 1503.77 0/1 99 124 61 63 0.51 exonic rs3819142 UMODL1 AU nonsynonymous SNV NM_001199527 exon21 c.A4093C p.N1365H 0.220647 0.256 0.172201 0.2085 0.2429 0.0 P -1.079 T 0.802 T 0.126 P Pathogenic 21_43557759_C->T 21 43557759 43557759 C T snp 399.77 0/1 99 49 31 18 0.37 intronic rs3819144 UMODL1 AU NM_001199528 exon22 c.61498+8C>T 0.219249 0.255 0.163469 0.0002 0.0003 Uncertain 21_43557791_A->G 21 43557791 43557791 A G snp 232.77 0/1 99 24 15 9 0.38 intronic rs138601577 UMODL1 AU NM_001199528 exon22 c.61498+40A>G Uncertain 21_43557800_T->C 21 43557800 43557800 T C snp 121.77 0/1 99 19 13 6 0.32 intronic UMODL1 AU NM_001199528 exon22 c.61498+49T>C Uncertain 21_43639333_CCGCCG->- 21 43639333 43639338 CCGCCG - indel 3206.73 0/1 99 94 50 44 0.47 upstream rs368753152 ABCG1 AU 0.161714 0.2906 0.4593 Uncertain 21_43639553_T->A 21 43639553 43639553 T A snp 1283.77 0/1 99 120 67 53 0.44 upstream rs4148098 ABCG1 AU 0.15615 0.245 Uncertain 21_43639591_A->C 21 43639591 43639591 A C snp 620.77 0/1 99 42 21 21 0.5 upstream rs4148099 ABCG1 AU 0.15655 0.245 Uncertain 21_43640066_C->G 21 43640066 43640066 C G snp 771.77 0/1 99 74 40 34 0.46 UTR5 rs9975490 ABCG1 AU 0.163339 0.245 0.096970 0.1708 0.2729 Uncertain 21_43640169_T->C 21 43640169 43640169 T C snp 1646.77 0/1 99 151 75 76 0.5 intronic rs4148100 ABCG1 AU NM_207174 exon1 c.75+13T>C 0.15615 0.245 0.096640 0.1615 0.2530 Uncertain 21_43640183_G->A 21 43640183 43640183 G A snp 1575.77 0/1 99 150 78 72 0.48 intronic rs4148101 ABCG1 AU NM_207174 exon1 c.75+27G>A 0.15615 0.245 0.100180 0.1609 0.2508 Uncertain 21_43691232_G->A 21 43691232 43691232 G A snp 1796.77 0/1 99 166 85 81 0.49 exonic rs2229411 ABCG1 AU synonymous SNV NM_207174 exon3 c.G372A p.L124L 0.0175719 0.0605 0.000384 0.0101 0.0599 Uncertain 21_43697195_A->G 21 43697195 43697195 A G snp 455.77 0/1 99 46 27 19 0.41 intronic rs2234718 ABCG1 AU NM_016818 exon5 c.57683+140A>G 0.273163 0.2421 Uncertain 21_43708431_-->C 21 43708431 43708431 - C indel 962.73 0/1 99 80 43 37 0.46 intronic rs2234720 ABCG1 AU NM_016818 exon10 c.69050+9insC 0.334265 0.3563 0.3159 Uncertain 21_43710052_C->T 21 43710052 43710052 C T snp 305.77 0/1 99 25 14 11 0.44 intronic rs4148137 ABCG1 AU NM_016818 exon11 c.70787-107C>T 0.326278 0.3363 Uncertain 21_43710096_G->T 21 43710096 43710096 G T snp 988.77 0/1 99 77 40 37 0.48 intronic rs2234721 ABCG1 AU NM_016818 exon11 c.70787-63G>T 0.324681 0.3353 Uncertain 21_43720513_AT->- 21 43720513 43720514 AT - indel 894.73 0/1 99 39 19 20 0.51 intergenic rs72117495 ABCG1 AU 0.258387 0.3234 Uncertain 21_43720525_A->G 21 43720525 43720525 A G snp 651.77 0/1 99 58 30 28 0.48 intergenic rs1023156 ABCG1 AU 0.557907 0.5496 Uncertain 21_43732333_C->T 21 43732333 43732333 C T snp 1308.77 0/1 99 124 67 57 0.46 UTR3 rs370223274 TFF3 AU 0.00419329 0.0208 0.000077 0.0007 0.0095 Uncertain 21_43733931_G->A 21 43733931 43733931 G A snp 139.03 1/1 12 4 0 4 1.0 intronic rs225360 TFF3 AU NM_003226 exon2 c.1376+190G>A 0.360423 0.1875 Uncertain 21_43769909_G->A 21 43769909 43769909 G A snp 306.78 1/1 24 10 0 10 1.0 intronic rs34333540 TFF2 AU NM_005423 exon3 c.3348-80G>A 0.577676 0.6071 Uncertain 21_43770927_T->- 21 43770927 43770927 T - indel 490.73 1/1 54 18 0 18 1.0 intronic rs397705808 TFF2 AU NM_005423 exon4 c.4346-60delT 0.568091 0.6071 Uncertain 21_43786606_G->A 21 43786606 43786606 G A snp 3878.77 1/1 99 154 0 154 1.0 UTR5 rs2156310 TFF1 AU 0.195088 0.4534 0.113025 0.1706 0.4549 Uncertain 21_43795697_G->A 21 43795697 43795697 G A snp 391.77 0/1 99 29 16 13 0.45 intronic rs2839493 TMPRSS3 AR NM_032404 exon2 c.2954-127G>A 0.188498 0.3075 Uncertain 21_43796787_C->T 21 43796787 43796787 C T snp 583.77 0/1 99 71 42 29 0.41 exonic rs188750127 TMPRSS3 AR nonsynonymous SNV NM_024022 exon11 c.G1057A p.A353T 0.000199681 0.001 1.65e-05 0 0.909 D -0.586 T 0.024 T 0.01 T Pathogenic 21_43796913_T->A 21 43796913 43796913 T A snp 152.77 0/1 99 15 7 8 0.53 intronic rs1078272 TMPRSS3 AR NM_032404 exon3 c.3925+118T>A 0.616414 0.5893 ID=CR1414785;DIS=Breast cancer progression, association with;TAG=DFP;PUB=25298020 DFP Uncertain 21_43801958_T->A 21 43801958 43801958 T A snp 37.77 0/1 66 6 4 2 0.33 intronic rs55847576 TMPRSS3 AR NM_032404 exon5 c.9303-215T>A 0.145367 0.3115 Uncertain 21_43802775_C->A 21 43802775 43802775 C A snp 194.77 0/1 99 13 6 7 0.54 intronic rs9984719 TMPRSS3 AR NM_032405 exon2 c.1051-366C>A 0.238019 0.3155 Uncertain 21_43803167_T->C 21 43803167 43803167 T C snp 1739.77 0/1 99 157 86 71 0.45 exonic rs2839500 TMPRSS3 AR nonsynonymous SNV NM_024022 exon8 c.A757G p.I253V 0.241214 0.3323 0.160157 0.1627 0.3307 0.000 P -1.045 T 0.0 T 0.002 T CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000039366.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 21_43803308_-->TA 21 43803308 43803308 - TA indel 3071.73 0/1 99 171 89 82 0.48 splicing rs34966432 TMPRSS3 AR NM_032405 exon2 c.1217+1insTA 0.173722 0.3145 0.090895 0.1232 0.3107 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000039363.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 ID=COSM1031043;OCCURENCE=1(endometrium) Pathogenic 21_43803412_T->C 21 43803412 43803412 T C snp 583.77 0/1 99 33 14 19 0.58 intronic rs8129105 TMPRSS3 AR NM_032405 exon2 c.1217+105T>C 0.617612 0.5933 Uncertain 21_43805656_T->C 21 43805656 43805656 T C snp 1815.77 0/1 99 157 87 70 0.45 intronic rs8130564 TMPRSS3 AR NM_032405 exon4 c.3553+13T>C 0.618411 0.6002 0.582116 0.4877 0.5837 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000039358.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 21_43809826_T->C 21 43809826 43809826 T C snp 37.77 0/1 66 4 2 2 0.5 intronic rs3814900 TMPRSS3 AR NM_032405 exon7 c.7945-209T>C 0.121006 0.2252 0.097021 Uncertain 21_43810084_C->T 21 43810084 43810084 C T snp 570.77 0/1 99 76 49 27 0.36 exonic rs928302 TMPRSS3 AR nonsynonymous SNV NM_024022 exon3 c.G157A p.V53I 0.103035 0.2173 0.080732 0.0732 0.1926 0.000 P -1.067 T 0.195 T 0.029 T CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000039342.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 21_43815773_A->G 21 43815773 43815773 A G snp 216.84 1/1 18 6 0 6 1.0 intronic rs225319 TMPRSS3 AR NM_032405 exon8 c.13487+196A>G 0.249401 0.3671 Uncertain 21_43830101_T->G 21 43830101 43830101 T G snp 504.77 0/1 99 73 46 27 0.37 intronic UBASH3A AU NM_018961 exon3 c.5663+384T>G Uncertain 21_43855067_A->C 21 43855067 43855067 A C snp 3718.77 1/1 99 135 0 135 1.0 splicing rs1893592 UBASH3A AU NM_018961 exon10 c.31010+3A>C 0.211262 0.2788 0.206751 0.2608 0.2714 Pathogenic 21_43862466_G->A 21 43862466 43862466 G A snp 455.77 1/1 36 13 0 13 1.0 intronic rs2254368 UBASH3A AU NM_018961 exon12 c.38507-95G>A 0.496206 0.5129 Uncertain 21_43863521_A->G 21 43863521 43863521 A G snp 2472.77 1/1 99 83 0 83 1.0 exonic rs868092 UBASH3A AU synonymous SNV NM_001001895 exon12 c.A1617G p.P539P 0.616813 0.5169 0.697063 0.7138 0.5450 Uncertain 21_43864519_G->A 21 43864519 43864519 G A snp 498.77 1/1 39 15 0 15 1.0 intronic rs4920104 UBASH3A AU NM_018961 exon14 c.40589-124G>A 0.487021 0.5149 Uncertain 21_43867039_G->A 21 43867039 43867039 G A snp 218.77 0/1 86 11 3 8 0.73 intronic rs117452302 UBASH3A AU NM_018961 exon15 c.43112-127G>A 0.00199681 0.0099 Uncertain 21_43867059_C->T 21 43867059 43867059 C T snp 523.77 1/1 39 17 1 16 0.94 intronic rs3827232 UBASH3A AU NM_018961 exon15 c.43112-107C>T 0.245008 0.1627 Uncertain 21_43902956_T->C 21 43902956 43902956 T C snp 349.78 1/1 27 9 0 9 1.0 intronic rs1153362 RSPH1 AR NM_080860 exon4 c.9891+138T>C 1 1 Uncertain 21_43913378_A->G 21 43913378 43913378 A G snp 174.9 1/1 15 5 0 5 1.0 intronic rs7277667 RSPH1 AR NM_080860 exon8 c.20262+189A>G 0.996206 0.9812 Uncertain 21_43963436_G->A 21 43963436 43963436 G A snp 137.77 0/1 99 19 13 6 0.32 intronic rs75863083 SLC37A1 AU NM_018964 exon9 c.24981-109G>A 0.0583067 0.1151 Uncertain 21_43963759_A->G 21 43963759 43963759 A G snp 539.77 0/1 99 52 29 23 0.44 intronic rs228075 SLC37A1 AU NM_018964 exon9 c.25148+47A>G 0.803315 0.4683 0.904967 0.8378 0.4670 Uncertain 21_43985955_G->A 21 43985955 43985955 G A snp 3733.77 1/1 99 130 0 130 1.0 exonic rs228104 SLC37A1 AU nonsynonymous SNV NM_018964 exon16 c.G1240A p.V414I 0.819888 0.5069 0.923036 0.8521 0.5044 0.47 T 0.0 P -0.953 T 0.001 T 0.001 T Pathogenic 21_44107960_T->A 21 44107960 44107960 T A snp 960.77 0/1 99 69 32 37 0.54 intronic rs2839573 PDE9A AU NM_002606 exon3 c.34102-66T>A 0.372005 0.5427 Uncertain 21_44107989_A->G 21 44107989 44107989 A G snp 3136.77 1/1 99 109 0 109 1.0 intronic rs2839574 PDE9A AU NM_002606 exon3 c.34102-37A>G 0.806709 0.9435 0.718361 0.6867 0.9546 Uncertain 21_44108228_A->G 21 44108228 44108228 A G snp 930.77 0/1 99 78 38 40 0.51 intronic rs13046426 PDE9A AU NM_002606 exon3 c.34180+124A>G 0.186302 0.3413 Uncertain 21_44108243_C->G 21 44108243 44108243 C G snp 839.77 0/1 99 61 28 33 0.54 intronic rs13047947 PDE9A AU NM_002606 exon3 c.34180+139C>G 0.186102 0.3403 Uncertain 21_44117311_A->C 21 44117311 44117311 A C snp 219.77 0/1 99 13 6 7 0.54 intronic PDE9A AU NM_001001570 exon4 c.43600-213A>C Uncertain 21_44117425_G->A 21 44117425 44117425 G A snp 1888.77 0/1 99 195 111 84 0.43 intronic rs2269143 PDE9A AU NM_001001570 exon4 c.43600-99G>A 0.158746 0.3373 Uncertain 21_44118958_T->A 21 44118958 44118958 T A snp 1102.77 1/1 81 34 0 34 1.0 intronic rs1515755 PDE9A AU NM_002606 exon4 c.45153-119T>A 0.763978 0.9444 Uncertain 21_44152149_G->A 21 44152149 44152149 G A snp 1203.77 0/1 99 123 70 53 0.43 intronic rs2269153 PDE9A AU NM_002606 exon6 c.78255-30G>A 0.397963 0.5506 0.311472 0.3558 0.5480 Uncertain 21_44153637_AAAT->- 21 44153637 44153640 AAAT - indel 2389.73 0/1 99 109 54 55 0.5 intronic rs398061781 PDE9A AU NM_002606 exon7 c.79612+101_79612+104delAAAT 0.13758 0.3244 Uncertain 21_44163839_A->G 21 44163839 44163839 A G snp 1381.77 1/1 99 51 0 51 1.0 intronic rs6586344 PDE9A AU NM_002606 exon8 c.89961-46A>G 0.96266 0.9494 0.987348 0.9601 0.9460 Uncertain 21_44174275_T->C 21 44174275 44174275 T C snp 1007.77 1/1 78 27 0 27 1.0 intronic rs4919999 PDE9A AU NM_002606 exon10 c.100250+101T>C 0.708666 0.8651 Uncertain 21_44180916_G->A 21 44180916 44180916 G A snp 3209.76 1/1 99 129 1 128 0.99 intronic rs1547379 PDE9A AU NM_002606 exon13 c.107010-18G>A 0.423522 0.3611 0.360372 0.3916 0.3486 Uncertain 21_44181240_C->G 21 44181240 44181240 C G snp 141.03 1/1 12 4 0 4 1.0 intronic rs2269163 PDE9A AU NM_002606 exon13 c.107093+223C>G 0.432308 0.3671 Uncertain 21_44182135_C->G 21 44182135 44182135 C G snp 2954.77 1/1 99 95 0 95 1.0 intronic rs2269168 PDE9A AU NM_002606 exon14 c.108268-57C>G 0.442093 0.374 Uncertain 21_44185794_T->G 21 44185794 44185794 T G snp 394.77 1/1 30 13 0 13 1.0 intronic rs2284970 PDE9A AU NM_002606 exon15 c.111680+190T>G 0.473642 0.377 Uncertain 21_44185795_C->A 21 44185795 44185795 C A snp 379.77 1/1 30 13 0 13 1.0 intronic rs2284971 PDE9A AU NM_002606 exon15 c.111680+191C>A 0.473642 0.377 Uncertain 21_44188112_G->A 21 44188112 44188112 G A snp 180.9 1/1 15 5 0 5 1.0 intronic rs2284976 PDE9A AU NM_002606 exon16 c.114373-185G>A 0.493411 0.378 Uncertain 21_44188250_C->- 21 44188250 44188250 C - indel 2890.73 1/1 99 74 0 74 1.0 intronic rs398081621 PDE9A AU NM_002606 exon16 c.114373-47delC 0.550319 0.378 0.508626 0.4692 0.3698 Uncertain 21_44188485_T->A 21 44188485 44188485 T A snp 1198.77 1/1 87 36 0 36 1.0 intronic rs2284977 PDE9A AU NM_002606 exon16 c.114478+83T>A 0.55012 0.379 Uncertain 21_44188504_C->A 21 44188504 44188504 C A snp 930.77 1/1 69 30 1 29 0.97 intronic rs67260236 PDE9A AU NM_002606 exon16 c.114478+102C>A 0.49361 0.379 Uncertain 21_44189166_T->C 21 44189166 44189166 T C snp 1582.77 1/1 99 56 0 56 1.0 exonic rs1045382 PDE9A AU synonymous SNV NM_001001580 exon11 c.T840C p.P280P 0.512979 0.4236 0.451561 0.4102 0.4140 Uncertain 21_44189172_A->C 21 44189172 44189172 A C snp 1638.77 1/1 99 59 0 59 1.0 exonic rs3087994 PDE9A AU synonymous SNV NM_001001580 exon11 c.A846C p.A282A 0.503994 0.4226 0.442488 0.4079 0.4145 Uncertain 21_44189387_G->A 21 44189387 44189387 G A snp 944.77 1/1 69 29 0 29 1.0 intronic rs55990449 PDE9A AU NM_002606 exon17 c.115341+122G>A 0.50639 0.4226 Uncertain 21_44339038_T->G 21 44339038 44339038 T G snp 886.77 0/1 99 92 48 44 0.48 intergenic rs62220807 NDUFV3 AU 0.0409345 0.1081 0.0246 0.0859 Uncertain 21_44370859_G->A 21 44370859 44370859 G A snp 264.8 1/1 21 7 0 7 1.0 intergenic rs370482 NDUFV3 AU 0.352436 0.2242 Uncertain 21_44371114_T->C 21 44371114 44371114 T C snp 2478.77 1/1 99 90 0 90 1.0 intergenic rs451887 NDUFV3 AU 0.874201 0.873 0.9231 1 Uncertain 21_44424689_-->A 21 44424689 44424689 - A indel 1578.73 1/1 99 62 0 62 1.0 intronic rs3216136 PKNOX1 AU NM_004571 exon2 c.51+147insA 0.848243 0.7708 Uncertain 21_44430325_T->C 21 44430325 44430325 T C snp 2077.77 1/1 99 70 0 70 1.0 exonic rs234781 PKNOX1 AU synonymous SNV NM_004571 exon4 c.T342C p.T114T 0.848043 0.7708 0.910412 0.8770 0.7618 Uncertain 21_44445185_C->T 21 44445185 44445185 C T snp 416.77 1/1 33 11 0 11 1.0 intronic rs234719 PKNOX1 AU NM_004571 exon9 c.20566+128C>T 0.172524 0.0813 Uncertain 21_44448763_G->C 21 44448763 44448763 G C snp 4646.77 1/1 99 165 0 165 1.0 intronic rs170916 PKNOX1 AU NM_004571 exon10 c.24320-48G>C 0.238618 0.0933 0.343764 0.3460 0.1048 Uncertain 21_44448775_G->A 21 44448775 44448775 G A snp 5204.77 1/1 99 196 1 195 0.99 intronic rs234728 PKNOX1 AU NM_004571 exon10 c.24320-36G>A 0.238618 0.0933 0.344072 0.3468 0.1053 Uncertain 21_44449095_G->A 21 44449095 44449095 G A snp 438.77 1/1 33 13 0 13 1.0 intronic rs234729 PKNOX1 AU NM_004571 exon10 c.24493+111G>A 0.851438 0.7431 0.8846 0.7541 Uncertain 21_44449917_G->A 21 44449917 44449917 G A snp 1260.77 1/1 93 44 0 44 1.0 intronic rs234733 PKNOX1 AU NM_004571 exon11 c.25508-82G>A 0.171126 0.0823 Uncertain 21_44476001_T->- 21 44476001 44476001 T - indel 1554.73 0/1 99 144 61 83 0.58 intronic rs750570864 CBS AR NM_000071 exon2 c.2923-911delT 0.1655 0.1648 Uncertain 21_44579891_T->C 21 44579891 44579891 T C snp 467.77 0/1 99 53 34 19 0.36 intergenic rs73374285 U2AF1 AU 0.134385 0.0982 0.1695 0.1522 Uncertain 21_44579936_T->C 21 44579936 44579936 T C snp 289.77 0/1 99 33 19 14 0.42 intergenic rs73374287 U2AF1 AU 0.147165 0.0992 Uncertain 21_44579990_G->A 21 44579990 44579990 G A snp 74.77 0/1 99 12 7 5 0.42 intergenic rs68189421 U2AF1 AU 0.243411 0.1111 Uncertain 21_44837551_G->A 21 44837551 44837551 G A snp 2290.77 0/1 99 228 131 97 0.43 exonic rs430552 SIK1 AD synonymous SNV NM_173354 exon13 c.C1848T p.P616P 0.725439 0.8849 0.724141 0.8000 0.8961 Uncertain 21_44837555_G->A 21 44837555 44837555 G A snp 2180.77 0/1 99 230 134 96 0.42 exonic rs430554 SIK1 AD nonsynonymous SNV NM_173354 exon13 c.C1844T p.A615V 0.830671 0.8958 0.845466 0.8900 0.9072 0.21 T 0.000 P -1.004 T 0.281 T 0.075 T Pathogenic 21_44837829_C->T 21 44837829 44837829 C T snp 259.8 1/1 21 8 0 8 1.0 intronic rs229345 SIK1 AD NM_173354 exon2 c.1033+175C>T 0.441893 0.6111 Uncertain 21_44846016_C->T 21 44846016 44846016 C T snp 2445.77 0/1 99 239 130 109 0.46 exonic rs3746951 SIK1 AD nonsynonymous SNV NM_173354 exon2 c.G43A p.G15S 0.166534 0.2153 0.186873 0.2813 0.2742 0.74 T 0.0 P -1.082 T 0.007 T 0.001 T Pathogenic 21_44985202_G->A 21 44985202 44985202 G A snp 474.77 0/1 99 83 53 30 0.36 intronic rs9637217 HSF2BP AU NM_007031 exon2 c.62472-26903G>A Uncertain 21_44985272_C->T 21 44985272 44985272 C T snp 687.77 0/1 99 98 53 45 0.46 intronic rs9637218 HSF2BP AU NM_007031 exon2 c.62472-26833C>T 0.603035 0.7609 Uncertain 21_45012353_C->T 21 45012353 45012353 C T snp 43.77 0/1 70 4 2 2 0.5 intronic rs1454650 HSF2BP AU NM_007031 exon2 c.62576+144C>T 0.717452 0.8046 Uncertain 21_45053011_A->G 21 45053011 45053011 A G snp 366.28 0/1 9 13 1 12 0.92 intronic rs7277539 HSF2BP AU NM_007031 exon5 c.103519-141A>G 0.72504 0.8056 Uncertain 21_45064296_C->A 21 45064296 45064296 C A snp 1142.77 0/1 99 80 35 45 0.56 intronic rs2246602 HSF2BP AU NM_007031 exon6 c.114640+23C>A 0.667532 0.8056 0.597109 0.6497 0.7699 Uncertain 21_45076373_A->G 21 45076373 45076373 A G snp 525.77 0/1 99 41 23 18 0.44 intronic rs2838340 HSF2BP AU NM_007031 exon7 c.126834-94A>G 0.516773 0.7123 Uncertain 21_45076443_A->G 21 45076443 45076443 A G snp 1918.77 0/1 99 150 68 82 0.55 intronic rs2838341 HSF2BP AU NM_007031 exon7 c.126834-24A>G 0.636581 0.8046 0.553052 0.6233 0.7647 Uncertain 21_45077865_G->A 21 45077865 45077865 G A snp 311.77 0/1 99 23 10 13 0.57 intronic rs2838342 HSF2BP AU NM_007031 exon8 c.128308-76G>A 0.623602 0.8016 0.536137 Uncertain 21_45078035_C->T 21 45078035 45078035 C T snp 933.77 0/1 99 87 45 42 0.48 UTR5 rs2838343 HSF2BP AU 0.634585 0.8026 Uncertain 21_45089877_G->A 21 45089877 45089877 G A snp 979.77 0/1 99 78 38 40 0.51 intronic rs2838344 RRP1B AU NM_015056 exon2 c.10302+30G>A 0.640775 0.8353 0.545671 0.6444 0.8013 Uncertain 21_45092095_G->C 21 45092095 45092095 G C snp 131.77 0/1 99 18 13 5 0.28 intronic rs11909064 RRP1B AU NM_015056 exon3 c.12643-93G>C 0.784744 0.8353 Uncertain 21_45092257_T->A 21 45092257 45092257 T A snp 1961.77 0/1 99 177 96 81 0.46 intronic rs2251253 RRP1B AU NM_015056 exon3 c.12701+11T>A 0.641573 0.8353 0.545979 0.6429 0.8003 Uncertain 21_45096206_G->A 21 45096206 45096206 G A snp 1252.77 0/1 99 140 84 56 0.4 exonic rs2155722 RRP1B AU synonymous SNV NM_015056 exon7 c.G603A p.A201A 0.646166 0.8353 0.557589 0.6519 0.7984 Uncertain 21_45107285_C->G 21 45107285 45107285 C G snp 213.77 0/1 99 13 6 7 0.54 intronic rs2838348 RRP1B AU NM_015056 exon13 c.27851-111C>G 0.785144 0.8343 Uncertain 21_45107518_A->G 21 45107518 45107518 A G snp 1957.77 0/1 99 181 101 80 0.44 exonic rs7279959 RRP1B AU synonymous SNV NM_015056 exon13 c.A1263G p.P421P 0.96845 0.8452 0.999614 0.9852 0.8091 Uncertain 21_45107562_T->C 21 45107562 45107562 T C snp 1547.77 0/1 99 153 94 59 0.39 exonic rs9306160 RRP1B AU nonsynonymous SNV NM_015056 exon13 c.T1307C p.L436P 0.799521 0.8353 0.703926 0.6952 0.8022 0 D 0.0 P -0.934 T 0.0 T 0.0 T ID=CM078343;DIS=Breast cancer progression, association with;TAG=DP;PUB=18081427 DP Pathogenic 21_45169005_A->G 21 45169005 45169005 A G snp 1205.77 1/1 87 42 0 42 1.0 intronic rs9974827 PDXK AU NM_003681 exon6 c.29786+44A>G 0.394968 0.497 0.341486 0.3876 0.5241 Uncertain 21_45170285_A->G 21 45170285 45170285 A G snp 3547.77 1/1 99 128 2 126 0.98 intronic rs1106797 PDXK AU NM_003681 exon7 c.31205-95A>G 0.801917 0.7341 Uncertain 21_45172628_G->A 21 45172628 45172628 G A snp 934.77 1/1 69 27 0 27 1.0 intronic rs2010795 PDXK AU NM_003681 exon8 c.33335+118G>A 0.360823 0.4702 Uncertain 21_45175370_G->A 21 45175370 45175370 G A snp 178.9 1/1 15 5 0 5 1.0 intronic rs2070534 PDXK AU NM_003681 exon10 c.36403-208G>A 0.370407 0.497 Uncertain 21_45175958_T->C 21 45175958 45175958 T C snp 3910.77 1/1 99 135 0 135 1.0 UTR3 rs7527 PDXK AU 0.58147 0.7133 0.478448 0.5696 0.7358 Uncertain 21_45210932_G->A 21 45210932 45210932 G A snp 2283.77 1/1 99 87 0 87 1.0 intronic rs2276246 RRP1 AU NM_003683 exon2 c.1720-298G>A 0.248602 0.4712 0.2546 0.4867 Uncertain 21_45214953_G->T 21 45214953 45214953 G T snp 852.77 1/1 63 23 0 23 1.0 intronic rs2838370 RRP1 AU NM_003683 exon5 c.5559-116G>T 0.280751 0.4702 Uncertain 21_45215046_T->C 21 45215046 45215046 T C snp 3057.77 1/1 99 111 1 110 0.99 intronic rs2838371 RRP1 AU NM_003683 exon5 c.5559-23T>C 0.686502 0.7917 0.548720 0.5590 0.7481 Uncertain 21_45215051_A->G 21 45215051 45215051 A G snp 3110.77 1/1 99 114 0 114 1.0 intronic rs2838372 RRP1 AU NM_003683 exon5 c.5559-18A>G 0.370008 0.5565 0.252346 0.3266 0.5257 Uncertain 21_45217456_G->A 21 45217456 45217456 G A snp 4313.77 1/1 99 158 0 158 1.0 intronic rs2070537 RRP1 AU NM_003683 exon6 c.7922+24G>A 0.28135 0.4712 0.181775 0.2514 0.4597 Uncertain 21_45217559_T->C 21 45217559 45217559 T C snp 5545.77 1/1 99 213 0 213 1.0 exonic rs2838378 RRP1 AU synonymous SNV NM_003683 exon7 c.T600C p.I200I 0.703474 0.7917 0.567474 0.5647 0.7504 Uncertain 21_45220570_T->C 21 45220570 45220570 T C snp 828.77 1/1 63 22 0 22 1.0 intronic rs731935 RRP1 AU NM_003683 exon10 c.10985+75T>C 0.697085 0.7917 Uncertain 21_45220626_-->C 21 45220626 45220626 - C indel 287.75 1/1 24 8 0 8 1.0 intronic rs3216106 RRP1 AU NM_003683 exon11 c.11232-116insC 0.623602 0.7054 Uncertain 21_45220787_A->G 21 45220787 45220787 A G snp 2487.77 1/1 99 94 0 94 1.0 intronic rs2329576 RRP1 AU NM_003683 exon11 c.11252+25A>G 1 1 1 1 Uncertain 21_45222058_A->G 21 45222058 45222058 A G snp 311.78 1/1 24 9 0 9 1.0 intronic rs4818868 RRP1 AU NM_003683 exon12 c.12644-96A>G 0.70607 0.7917 Uncertain 21_45404672_-->T 21 45404672 45404672 - T indel 1627.73 1/1 99 66 0 66 1.0 UTR3 rs149582365 AGPAT3 AU 0.245008 0.2351 Uncertain 21_45452249_G->A 21 45452249 45452249 G A snp 96.28 1/1 9 3 0 3 1.0 intronic rs2020947 TRAPPC10 AU NM_003274 exon2 c.19679+196G>A 0.459065 0.2996 Uncertain 21_45475489_G->C 21 45475489 45475489 G C snp 34.77 0/1 63 7 5 2 0.29 intronic rs9306172 TRAPPC10 AU NM_003274 exon5 c.43204-89G>C Uncertain 21_45478904_-->GTAAT 21 45478904 45478904 - GTAAT indel 308.73 0/1 99 19 14 5 0.26 intronic rs3834677 TRAPPC10 AU NM_003274 exon6 c.46609-79insGTAAT 0.429313 0.2996 Uncertain 21_45479055_C->T 21 45479055 45479055 C T snp 875.77 0/1 99 68 27 41 0.6 exonic rs2838475 TRAPPC10 AU synonymous SNV NM_003274 exon6 c.C750T p.D250D 0.0549121 0.0506 0.078272 0.0771 0.0431 Uncertain 21_45482800_T->C 21 45482800 45482800 T C snp 258.77 0/1 99 47 35 12 0.26 intronic rs2838478 TRAPPC10 AU NM_003274 exon7 c.51044-618T>C 0.397564 0.2986 Uncertain 21_45494183_G->A 21 45494183 45494183 G A snp 1251.77 0/1 99 90 41 49 0.54 intronic rs2277805 TRAPPC10 AU NM_003274 exon8 c.61830-21G>A 0.247005 0.1925 0.227664 0.2114 0.1948 Uncertain 21_45503121_G->A 21 45503121 45503121 G A snp 1642.77 0/1 99 124 61 63 0.51 exonic rs2071152 TRAPPC10 AU nonsynonymous SNV NM_003274 exon14 c.G2176A p.V726M 0.394169 0.2976 0.314547 0.2611 0.2870 0.17 T 0.001 P -0.980 T 0.024 T 0.009 T Pathogenic 21_45506819_T->C 21 45506819 45506819 T C snp 1013.77 0/1 99 98 55 43 0.44 exonic rs1131999 TRAPPC10 AU synonymous SNV NM_003274 exon16 c.T2517C p.A839A 0.420727 0.2986 0.345610 0.2765 0.2867 Uncertain 21_45509650_A->C 21 45509650 45509650 A C snp 1275.77 0/1 99 100 49 51 0.51 intronic rs2277806 TRAPPC10 AU NM_003274 exon18 c.77339-63A>C 0.407748 0.2986 Uncertain 21_45512094_G->A 21 45512094 45512094 G A snp 182.77 0/1 99 13 7 6 0.46 intronic rs3788104 TRAPPC10 AU NM_003274 exon19 c.79556+164G>A 0.250799 0.1915 0.230837 Uncertain 21_45514142_G->- 21 45514142 45514142 G - indel 875.73 1/1 72 27 0 27 1.0 intronic rs11287102 TRAPPC10 AU NM_003274 exon20 c.81740+28delG 1 1 0.999680 1 1 Uncertain 21_45514149_A->G 21 45514149 45514149 A G snp 658.77 1/1 48 23 0 23 1.0 intronic rs9941801 TRAPPC10 AU NM_003274 exon20 c.81740+35A>G 1 1 1 1 Uncertain 21_45514168_C->T 21 45514168 45514168 C T snp 564.77 1/1 42 19 0 19 1.0 intronic rs4819371 TRAPPC10 AU NM_003274 exon20 c.81740+54C>T 1 1 Uncertain 21_45514188_A->G 21 45514188 45514188 A G snp 312.78 1/1 24 10 0 10 1.0 intronic rs4818879 TRAPPC10 AU NM_003274 exon20 c.81740+74A>G 1 1 Uncertain 21_45518131_A->T 21 45518131 45518131 A T snp 457.77 0/1 99 49 31 18 0.37 intronic rs2242950 TRAPPC10 AU NM_003274 exon21 c.85863-106A>T 0.425719 0.2986 Uncertain 21_45522693_G->A 21 45522693 45522693 G A snp 1762.77 0/1 99 183 106 77 0.42 exonic rs2071155 TRAPPC10 AU synonymous SNV NM_003274 exon22 c.G3381A p.G1127G 0.0163738 0.0456 0.000769 0.0079 0.0442 Uncertain 21_45527113_CTC->- 21 45527113 45527115 CTC - indel 769.73 1/1 42 14 0 14 1.0 upstream;downstream rs71197879 PWP2;TRAPPC10 UN 0.761781 0.8929 Uncertain 21_45527460_G->A 21 45527460 45527460 G A snp 368.77 0/1 99 21 6 15 0.71 intronic rs2850153 PWP2 AU NM_005049 exon1 c.18+145G>A 0.592252 0.7024 Uncertain 21_45528919_G->A 21 45528919 45528919 G A snp 1430.77 0/1 99 144 84 60 0.42 exonic rs2020945 PWP2 AU nonsynonymous SNV NM_005049 exon2 c.G73A p.D25N 0.572085 0.6994 0.643780 0.7156 0.7115 0.12 T 0.999 P -1.010 T 0.696 T 0.059 P Pathogenic 21_45529115_C->G 21 45529115 45529115 C G snp 83.77 0/1 28 4 1 3 0.75 intronic rs2020946 PWP2 AU NM_005049 exon2 c.1680+138C>G 0.594848 0.7014 Uncertain 21_45534032_C->T 21 45534032 45534032 C T snp 1879.77 0/1 99 162 81 81 0.5 intronic rs2243999 PWP2 AU NM_005049 exon4 c.6762-27C>T 0.573882 0.6984 0.645779 0.7167 0.7149 Uncertain 21_45538513_G->- 21 45538513 45538513 G - indel 183.73 0/1 99 25 18 7 0.28 intronic rs5844173 PWP2 AU NM_005049 exon9 c.11346-130delG 0.573682 0.6994 0.645428 Uncertain 21_45538647_T->C 21 45538647 45538647 T C snp 1659.77 0/1 99 192 112 80 0.42 exonic rs756553 PWP2 AU synonymous SNV NM_005049 exon9 c.T984C p.I328I 0.602236 0.7014 0.670075 0.7247 0.7154 Uncertain 21_45538725_C->A 21 45538725 45538725 C A snp 1613.77 0/1 99 170 94 76 0.45 intronic rs756554 PWP2 AU NM_005049 exon9 c.11417+11C>A 0.601837 0.6994 0.670152 0.7288 0.7193 Uncertain 21_45538782_A->T 21 45538782 45538782 A T snp 3089.77 1/1 99 108 0 108 1.0 intronic rs756555 PWP2 AU NM_005049 exon9 c.11417+68A>T 0.616214 0.7361 0.684187 Uncertain 21_45539240_G->C 21 45539240 45539240 G C snp 373.77 0/1 99 33 18 15 0.45 intronic rs2855652 PWP2 AU NM_005049 exon10 c.11970-27G>C 0.58147 0.7024 0.652368 0.7410 0.7403 Uncertain 21_45539426_G->A 21 45539426 45539426 G A snp 1055.77 0/1 99 97 45 52 0.54 intronic rs2071142 PWP2 AU NM_005049 exon10 c.12107+22G>A 0.579473 0.7004 0.664139 0.6719 0.7472 Uncertain 21_45540143_G->A 21 45540143 45540143 G A snp 297.77 0/1 99 36 23 13 0.36 intronic rs2855653 PWP2 AU NM_005049 exon11 c.12931-85G>A 0.74361 0.8085 Uncertain 21_45540207_C->T 21 45540207 45540207 C T snp 1453.77 0/1 99 131 69 62 0.47 intronic rs2850157 PWP2 AU NM_005049 exon11 c.12931-21C>T 0.579872 0.7004 0.650623 0.7184 0.7137 Uncertain 21_45540919_A->G 21 45540919 45540919 A G snp 2852.77 0/1 99 248 132 116 0.47 exonic rs2071143 PWP2 AU synonymous SNV NM_005049 exon13 c.A1572G p.T524T 0.581669 0.6994 0.652468 0.7191 0.7146 Uncertain 21_45544594_T->C 21 45544594 45544594 T C snp 1558.77 0/1 99 138 66 72 0.52 exonic rs2187313 PWP2 AU synonymous SNV NM_005049 exon15 c.T1951C p.L651L 0.743411 0.8085 0.759496 0.7858 0.8054 Uncertain 21_45547736_T->A 21 45547736 45547736 T A snp 31.77 0/1 60 5 3 2 0.4 intronic PWP2 AU NM_005049 exon18 c.20515-76T>A Uncertain 21_45550461_C->- 21 45550461 45550461 C - indel 1224.73 1/1 96 32 0 32 1.0 intronic rs11311220 PWP2 AU NM_005049 exon21 c.23181-17delC 1 1 1 1 Uncertain 21_45553430_A->C 21 45553430 45553430 A C snp 4587.77 1/1 99 152 1 151 0.99 upstream rs2187314 C21orf33 AU 0.972045 1 Uncertain 21_45553476_A->C 21 45553476 45553476 A C snp 3330.77 0/1 99 250 117 133 0.53 upstream rs968713 C21orf33 AU 0.751997 0.8085 Uncertain 21_45553596_T->C 21 45553596 45553596 T C snp 3479.77 0/1 99 241 106 135 0.56 exonic rs968714 C21orf33 AU nonsynonymous SNV NM_004649 exon1 c.T17C p.V6A 0.591853 0.7004 0.658454 0.7432 0.7364 1 T 0.0 P -0.971 T 0.0 T 0.0 T Pathogenic 21_45556186_A->G 21 45556186 45556186 A G snp 260.77 0/1 52 10 2 8 0.8 intronic rs2071135 C21orf33 AU NM_004649 exon3 c.2476+131A>G 0.761781 0.8085 Uncertain 21_45560331_C->G 21 45560331 45560331 C G snp 162.77 0/1 99 20 14 6 0.3 intronic rs2838492 C21orf33 AU NM_004649 exon5 c.6645+107C>G 0.592252 0.7004 Uncertain 21_45560755_G->A 21 45560755 45560755 G A snp 46.77 0/1 75 13 10 3 0.23 intronic rs4819380 C21orf33 AU NM_004649 exon5 c.6645+531G>A 0.176118 0.1915 Uncertain 21_45561039_T->C 21 45561039 45561039 T C snp 3301.77 0/1 99 249 124 125 0.5 intronic rs1059813 C21orf33 AU NM_004649 exon5 c.6645+815T>C 0.59385 0.7004 0.7163 0.7522 Uncertain 21_45564575_G->C 21 45564575 45564575 G C snp 283.77 0/1 99 19 10 9 0.47 intronic rs2838496 C21orf33 AU NM_004649 exon7 c.11123-127G>C 0.585863 0.6994 Uncertain 21_45564882_G->T 21 45564882 45564882 G T snp 712.77 0/1 99 57 30 27 0.47 UTR3 rs189380887 C21orf33 AU 0.00219649 0.0089 0.0007 0.0066 Uncertain 21_45565473_C->T 21 45565473 45565473 C T snp 1004.77 0/1 99 75 28 47 0.63 UTR3 rs7676 C21orf33 AU 0.751997 0.8075 0.7479 0.8313 0.000 P -1.079 T Uncertain 21_45643008_A->G 21 45643008 45643008 A G snp 1240.77 0/1 99 129 71 58 0.45 intergenic rs1048710 C21orf33 AU 0.460863 0.4345 0.3704 0.4956 Uncertain 21_45648992_T->C 21 45648992 45648992 T C snp 1097.77 0/1 99 140 87 53 0.38 intronic rs7278940 ICOSLG AU NM_015259 exon1 c.11+65T>C 0.719649 0.5774 0.728428 Uncertain 21_45649494_A->G 21 45649494 45649494 A G snp 1475.77 1/1 99 57 0 57 1.0 intronic rs7278772 ICOSLG AU NM_015259 exon2 c.1020-442A>G 0.9262 0.9548 Uncertain 21_45649499_G->A 21 45649499 45649499 G A snp 589.77 0/1 99 55 25 30 0.55 intronic rs9974245 ICOSLG AU NM_015259 exon2 c.1020-437G>A 0.2175 0.4605 0 D 0.0 P -0.957 T Uncertain 21_45649778_A->G 21 45649778 45649778 A G snp 2788.77 0/1 99 219 98 121 0.55 intronic rs4568033 ICOSLG AU NM_015259 exon2 c.1020-158A>G 0.706869 0.5774 0.7235 0.5780 1 T 0.0 P -0.951 T Uncertain 21_45649848_T->C 21 45649848 45649848 T C snp 2681.77 0/1 99 194 87 107 0.55 intronic rs13052840 ICOSLG AU NM_015259 exon2 c.1020-88T>C 0.622804 0.5665 0.6631 0.5597 Uncertain 21_45650008_-->C 21 45650008 45650008 - C indel 341.73 0/1 99 44 23 21 0.48 intronic rs145424134 ICOSLG AU NM_015259 exon2 c.1056+36insC 0.269967 0.3093 0.3827 Uncertain 21_45650009_T->G 21 45650009 45650009 T G snp 424.77 0/1 99 44 23 21 0.48 intronic rs2236668 ICOSLG AU NM_015259 exon2 c.1056+37T>G 0.2798 0.3770 Uncertain 21_45651413_A->G 21 45651413 45651413 A G snp 1410.77 1/1 99 44 0 44 1.0 intronic rs3746962 ICOSLG AU NM_015259 exon3 c.2411+86A>G 0.951278 0.9623 Uncertain 21_45655124_A->T 21 45655124 45655124 A T snp 448.77 0/1 99 39 23 16 0.41 intronic rs2070557 ICOSLG AU NM_015259 exon4 c.6238-30A>T 0.439097 0.4464 0.340058 0.4080 0.4320 Uncertain 21_45656774_C->T 21 45656774 45656774 C T snp 1979.77 0/1 99 170 88 82 0.48 exonic rs11558819 ICOSLG AU nonsynonymous SNV NM_015259 exon3 c.G382A p.V128I 0.269169 0.1438 0.288044 0.2706 0.1696 0.36 T 0.0 P -0.992 T 0.694 T 0.253 P Pathogenic 21_45658474_A->G 21 45658474 45658474 A G snp 493.77 0/1 99 45 22 23 0.51 intronic rs56124762 ICOSLG AU NM_015259 exon6 c.9455+103A>G 0.183906 0.1438 Uncertain 21_45675827_A->G 21 45675827 45675827 A G snp 136.03 1/1 12 4 0 4 1.0 intronic rs968448 DNMT3L AU NM_013369 exon6 c.9670-122A>G 0.791334 0.8115 Uncertain 21_45675877_G->T 21 45675877 45675877 G T snp 646.77 1/1 51 17 0 17 1.0 intronic rs2070563 DNMT3L AU NM_013369 exon6 c.9670-72G>T 0.220048 0.374 Uncertain 21_45681153_T->C 21 45681153 45681153 T C snp 690.77 1/1 51 23 0 23 1.0 splicing rs2070565 DNMT3L AU NM_013369 exon11 c.14870+4T>C 0.786142 0.8065 0.749500 0.7041 0.8092 Pathogenic 21_45709906_C->G 21 45709906 45709906 C G snp 1784.77 0/1 99 157 79 78 0.5 exonic rs1800520 AIRE AR,AD nonsynonymous SNV NM_000383 exon7 c.C834G p.S278R 0.228235 0.3462 0.156380 0.1579 0.3934 0.56 T 0.000 P -0.989 T 0.0 T 0.0 T ID=CM025479;DIS=Alopecia universalis, association with;TAG=DP;PUB=12542742 DP Pathogenic 21_45710052_G->A 21 45710052 45710052 G A snp 823.77 0/1 99 88 53 35 0.4 intronic rs2075877 AIRE AR,AD NM_000383 exon7 c.4062+101G>A 0.11242 0.3442 Uncertain 21_45710528_G->C 21 45710528 45710528 G C snp 120.77 0/1 66 6 2 4 0.67 intronic rs2073610 AIRE AR,AD NM_000383 exon8 c.5088-449G>C 0.14357 0.3442 Uncertain 21_45710681_G->A 21 45710681 45710681 G A snp 1385.77 0/1 99 147 84 63 0.43 intronic rs2073611 AIRE AR,AD NM_000383 exon8 c.5088-296G>A 0.106829 0.3442 0.029615 0.0543 0.3803 Uncertain 21_45712290_G->A 21 45712290 45712290 G A snp 738.77 0/1 99 43 12 31 0.72 splicing rs1800525 AIRE AR,AD NM_000383 exon9 c.6395+6G>A 0.149561 0.3433 0.088969 0.1321 0.4255 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000116292.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 ID=CS1412655;DIS=Autoimmune polyglandular syndrome type 2;TAG=DM;PUB=25402387 DM Pathogenic 21_45712358_C->- 21 45712358 45712358 C - indel 118.73 0/1 99 11 4 7 0.64 intronic rs397691314 AIRE AR,AD NM_000383 exon9 c.6395+74delC Uncertain 21_45712977_T->C 21 45712977 45712977 T C snp 551.77 0/1 99 74 45 29 0.39 exonic rs1800521 AIRE AR,AD synonymous SNV NM_000383 exon10 c.T1197C p.A399A 0.35623 0.247 0.393496 0.3780 0.2691 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000116299.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 21_45713916_C->T 21 45713916 45713916 C T snp 167.8 0/1 21 7 1 6 0.86 intronic rs538755888 AIRE AR,AD NM_000383 exon11 c.7904+123C>T 0.000399361 0.002 Uncertain 21_45726480_T->G 21 45726480 45726480 T G snp 282.77 0/1 99 33 21 12 0.36 intronic rs2070568 PFKL AU NM_002626 exon2 c.6575-83T>G 0.38778 0.5893 Uncertain 21_45726499_-->GGG 21 45726499 45726499 - GGG indel 536.73 0/1 99 44 29 15 0.34 intronic rs111498206 PFKL AU NM_002626 exon2 c.6575-64insGGG Uncertain 21_45726504_A->G 21 45726504 45726504 A G snp 418.77 0/1 99 49 28 21 0.43 intronic rs55966702 PFKL AU NM_002626 exon2 c.6575-59A>G Uncertain 21_45726694_C->G 21 45726694 45726694 C G snp 407.77 0/1 99 35 19 16 0.46 intronic rs2070569 PFKL AU NM_002626 exon2 c.6649+57C>G 0.48742 0.5992 0.335523 Uncertain 21_45726695_C->T 21 45726695 45726695 C T snp 399.77 0/1 99 34 18 16 0.47 intronic rs2070570 PFKL AU NM_002626 exon2 c.6649+58C>T 0.48742 0.5992 0.344503 Uncertain 21_45726718_C->T 21 45726718 45726718 C T snp 339.77 0/1 99 25 11 14 0.56 intronic rs76166740 PFKL AU NM_002626 exon2 c.6649+81C>T 0.0125799 0.0437 Uncertain 21_45726790_T->C 21 45726790 45726790 T C snp 82.77 0/1 99 7 3 4 0.57 intronic rs2070571 PFKL AU NM_002626 exon2 c.6649+153T>C 0.488419 0.5992 Uncertain 21_45732116_C->T 21 45732116 45732116 C T snp 900.77 0/1 99 98 54 44 0.45 exonic rs1057034 PFKL AU synonymous SNV NM_002626 exon4 c.C366T p.L122L 0.458466 0.38 0.481410 0.5522 0.3882 Uncertain 21_45733911_G->A 21 45733911 45733911 G A snp 1991.77 0/1 99 177 89 88 0.5 intronic rs61750224 PFKL AU NM_002626 exon7 c.13916+7G>A 0.178714 0.0119 0.268626 0.3078 0.0180 Uncertain 21_45735995_T->C 21 45735995 45735995 T C snp 261.77 0/1 99 14 6 8 0.57 intronic rs2847231 PFKL AU NM_002626 exon8 c.16138-131T>C 0.534345 0.3849 Uncertain 21_45741854_T->C 21 45741854 45741854 T C snp 942.77 0/1 99 72 38 34 0.47 intronic rs4818904 PFKL AU NM_002626 exon13 c.21770+96T>C 0.818091 0.753 Uncertain 21_45742115_G->A 21 45742115 45742115 G A snp 607.77 0/1 99 44 21 23 0.52 intronic rs2277808 PFKL AU NM_002626 exon14 c.22098+29G>A 0.485423 0.3452 0.532477 0.5794 0.3082 Uncertain 21_45742822_T->C 21 45742822 45742822 T C snp 631.77 0/1 99 63 34 29 0.46 intronic rs11088947 PFKL AU NM_002626 exon15 c.22856-22T>C 0.308706 0.0893 0.374039 0.3778 0.0721 Uncertain 21_45743594_C->T 21 45743594 45743594 C T snp 791.77 0/1 99 60 31 29 0.48 intronic rs12482028 PFKL AU NM_002626 exon16 c.23660-54C>T 0.776957 0.6815 Uncertain 21_45746214_A->C 21 45746214 45746214 A C snp 545.77 0/1 99 51 32 19 0.37 intronic rs4818905 PFKL AU NM_002626 exon21 c.26159+67A>C 0.466454 0.3413 Uncertain 21_45746225_G->A 21 45746225 45746225 G A snp 497.77 0/1 99 41 23 18 0.44 intronic rs4818906 PFKL AU NM_002626 exon21 c.26159+78G>A 0.732228 0.7192 Uncertain 21_45750248_G->A 21 45750248 45750248 G A snp 1963.77 0/1 99 132 54 78 0.59 intronic rs11552067 C21orf2 AU NM_004928 exon1 c.129+39G>A 0.464657 0.3631 0.479167 0.5395 0.3297 Uncertain 21_45755859_C->T 21 45755859 45755859 C T snp 301.77 0/1 99 15 6 9 0.6 intronic C21orf2 AU NM_004928 exon5 c.5607+172C>T Uncertain 21_45789011_-->G 21 45789011 45789011 - G indel 1996.73 1/1 99 50 0 50 1.0 intronic rs34543751 TRPM2 AU NM_003307 exon5 c.15476-48insG 1 1 0.999678 1.0000 1 Uncertain 21_45815574_G->- 21 45815574 45815574 G - indel 233.06 1/1 11 18 1 17 0.94 intronic rs775476040 TRPM2 AU NM_003307 exon12 c.41851+140delG Uncertain 21_45815582_G->A 21 45815582 45815582 G A snp 240.84 0/1 18 8 1 7 0.88 intronic rs371831935 TRPM2 AU NM_003307 exon12 c.41851+148G>A 0.813299 0.8175 Uncertain 21_45815583_-->G 21 45815583 45815583 - G indel 221.25 1/1 9 8 1 7 0.88 intronic rs528212987 TRPM2 AU NM_003307 exon12 c.41851+149insG 0.813299 0.8175 Uncertain 21_45815586_A->G 21 45815586 45815586 A G snp 276.77 1/1 21 8 0 8 1.0 intronic rs28483980 TRPM2 AU NM_003307 exon12 c.41851+152A>G 0.813299 0.8175 Uncertain 21_45817620_T->C 21 45817620 45817620 T C snp 2846.77 1/1 99 105 0 105 1.0 intronic rs1785436 TRPM2 AU NM_003307 exon13 c.44046-9T>C 0.767173 0.7946 0.776914 0.7587 0.8258 Uncertain 21_45821529_T->C 21 45821529 45821529 T C snp 564.77 0/1 99 51 33 18 0.35 intronic rs9974831 TRPM2 AU NM_003307 exon16 c.47980-34T>C 0.259784 0.4385 0.241960 0.2621 0.4959 Uncertain 21_45821794_C->T 21 45821794 45821794 C T snp 3879.77 1/1 99 132 0 132 1.0 intronic rs1785437 TRPM2 AU NM_003307 exon16 c.48197+14C>T 0.707867 0.7639 0.735122 0.7351 0.7986 Uncertain 21_45825975_G->A 21 45825975 45825975 G A snp 3662.77 1/1 99 113 0 113 1.0 intronic rs1614122 TRPM2 AU NM_003307 exon18 c.52337+55G>A 0.679712 0.7649 Uncertain 21_45826434_C->T 21 45826434 45826434 C T snp 2032.77 1/1 99 79 0 79 1.0 intronic rs1785454 TRPM2 AU NM_003307 exon19 c.52893-42C>T 0.677117 0.7639 0.701428 0.7337 0.8031 Uncertain 21_45826462_C->A 21 45826462 45826462 C A snp 2388.77 1/1 99 96 0 96 1.0 intronic rs1618355 TRPM2 AU NM_003307 exon19 c.52893-14C>A 0.676518 0.7629 0.697588 0.7340 0.8014 Uncertain 21_45826744_A->G 21 45826744 45826744 A G snp 129.03 1/1 12 4 0 4 1.0 intronic rs1785439 TRPM2 AU NM_003307 exon19 c.53065+96A>G 0.744609 0.7956 Uncertain 21_45834025_T->C 21 45834025 45834025 T C snp 2030.77 1/1 99 59 0 59 1.0 intronic rs915779 TRPM2 AU NM_003307 exon20 c.60374+68T>C 0.689896 0.7629 Uncertain 21_45837790_T->C 21 45837790 45837790 T C snp 6838.77 1/1 99 243 0 243 1.0 ncRNA_intronic rs1785452 TRPM2-AS AU 0.680911 0.7778 0.687404 0.7326 0.8029 Uncertain 21_45844601_C->T 21 45844601 45844601 C T snp 478.77 1/1 36 15 0 15 1.0 ncRNA_intronic rs13050999 TRPM2-AS AU 0.480232 0.6815 Uncertain 21_45844751_A->G 21 45844751 45844751 A G snp 1340.77 1/1 96 56 0 56 1.0 exonic rs9978351 TRPM2 AU nonsynonymous SNV NM_003307 exon24 c.A3566G p.Q1189R 0.950479 0.9593 0.977672 0.9770 0.9580 0.63 T 0.0 P -1.011 T 0.0 T 0.0 T Pathogenic 21_45845807_C->T 21 45845807 45845807 C T snp 179.9 1/1 15 8 0 8 1.0 intronic rs762428 TRPM2 AU NM_003307 exon25 c.72127+97C>T 0.946885 0.9653 Uncertain 21_45854925_G->A 21 45854925 45854925 G A snp 907.77 1/1 66 35 0 35 1.0 intronic rs41277556 TRPM2 AU NM_003307 exon28 c.81430-88G>A 0.717851 0.8631 Uncertain 21_45856987_A->G 21 45856987 45856987 A G snp 648.77 0/1 99 106 72 34 0.32 exonic rs45613636 TRPM2 AU nonsynonymous SNV NM_003307 exon29 c.A4104G p.I1368M 0.00678914 0.0337 0.000086 0.0013 0.0409 0.07 T 1.000 N -1.012 T 0.919 T 0.507 D Pathogenic 21_45860912_G->A 21 45860912 45860912 G A snp 419.77 1/1 33 11 0 11 1.0 intronic rs1573477 TRPM2 AU NM_003307 exon31 c.87205+124G>A 0.494209 0.6954 Uncertain 21_45942111_A->G 21 45942111 45942111 A G snp 321.77 0/1 99 18 8 10 0.56 intronic TSPEAR AR NM_001272037 exon4 c.22330+116A>G 0.884185 0.9355 Uncertain 21_45959097_A->C 21 45959097 45959097 A C snp 116.77 0/1 99 12 7 5 0.42 UTR3 KRTAP10-1 AU 0.611022 0.494 Uncertain 21_45959195_G->A 21 45959195 45959195 G A snp 382.77 0/1 99 36 18 18 0.5 exonic KRTAP10-1 AU nonsynonymous SNV NM_198691 exon1 c.C839T p.P280L 0.621805 0.4861 0.690686 0.6368 0.5058 0.24 T 0.0 P -1.110 T 0.964 D 0.39 D Pathogenic 21_45959312_C->T 21 45959312 45959312 C T snp 1089.77 1/1 81 38 0 38 1.0 exonic KRTAP10-1 AU nonsynonymous SNV NM_198691 exon1 c.G722A p.R241Q 0.808506 0.755 0.826080 0.8254 0.7582 0.08 T 0.0 P -1.201 T 1.0 D 0.973 D Pathogenic 21_45959386_G->A 21 45959386 45959386 G A snp 659.77 0/1 99 37 15 22 0.59 exonic KRTAP10-1 AU synonymous SNV NM_198691 exon1 c.C648T p.C216C 0.574481 0.4683 0.5014 0.4124 Uncertain 21_45959557_A->T 21 45959557 45959557 A T snp 1090.77 0/1 99 144 86 58 0.4 exonic KRTAP10-1 AU nonsynonymous SNV NM_198691 exon1 c.T477A p.D159E 0.602037 0.4921 0.103721 0.1 T 1 N -0.937 T 0.05 T 0.014 T Pathogenic 21_45959558_T->G 21 45959558 45959558 T G snp 1287.77 0/1 99 144 85 59 0.41 exonic KRTAP10-1 AU nonsynonymous SNV NM_198691 exon1 c.A476C p.D159A 0.602037 0.4921 0.114101 1 T 0.0 P -1.014 T 0.0 T 0.0 T Pathogenic 21_45959559_C->A 21 45959559 45959559 C A snp 1309.77 0/1 99 145 89 56 0.39 exonic KRTAP10-1 AU nonsynonymous SNV NM_198691 exon1 c.G475T p.D159Y 0.602037 0.4921 0.324004 0.04 T 0.0 P -1.068 T 0.734 T 0.228 P Pathogenic 21_45959733_C->T 21 45959733 45959733 C T snp 533.77 0/1 99 45 24 21 0.47 exonic KRTAP10-1 AU nonsynonymous SNV NM_198691 exon1 c.G301A p.V101M 0.594649 0.4831 0.6250 0.5010 0.09 T 0.0 P -1.146 T 0.998 D 0.922 D Pathogenic 21_45959918_G->A 21 45959918 45959918 G A snp 201.77 0/1 99 24 14 10 0.42 exonic KRTAP10-1 AU nonsynonymous SNV NM_198691 exon1 c.C116T p.P39L 0.609824 0.4861 0.687433 0.6305 0.5051 0.05 T 0.036 P -1.071 T 1.0 D 0.995 D Pathogenic 21_45970718_C->T 21 45970718 45970718 C T snp 1332.77 0/1 99 110 58 52 0.47 exonic KRTAP10-2 AU synonymous SNV NM_198693 exon1 c.G624A p.P208P 0.265775 0.3641 0.243042 0.2160 0.3686 Uncertain 21_45970760_CTTGCAGCAGACAGG->- 21 45970760 45970774 CTTGCAGCAGACAGG - indel 6885.73 0/1 99 116 59 57 0.49 exonic KRTAP10-2 AU nonframeshift deletion NM_198693 exon1 c.568_582del p.190_194del 0.212859 0.3661 0.169596 0.1987 0.3596 Uncertain 21_45970812_G->A 21 45970812 45970812 G A snp 1535.77 0/1 99 145 75 70 0.48 exonic KRTAP10-2 AU nonsynonymous SNV NM_198693 exon1 c.C530T p.P177L 0.547524 0.371 0.582423 0.6015 0.3684 0.16 T 0.0 P -1.035 T 0.019 T 0.009 T Pathogenic 21_45970993_C->G 21 45970993 45970993 C G snp 1074.77 0/1 99 106 62 44 0.42 exonic KRTAP10-2 AU nonsynonymous SNV NM_198693 exon1 c.G349C p.A117P 0.227835 0.3651 0.206981 0.1950 0.3404 1 T 0.0 P -1.108 T 0.89 T 0.293 P Pathogenic 21_45971018_C->G 21 45971018 45971018 C G snp 671.77 0/1 99 79 49 30 0.38 exonic KRTAP10-2 AU synonymous SNV NM_198693 exon1 c.G324C p.V108V 0.227636 0.3681 0.206090 0.1955 0.3428 Uncertain 21_45971023_G->T 21 45971023 45971023 G T snp 527.77 0/1 99 75 48 27 0.36 exonic KRTAP10-2 AU nonsynonymous SNV NM_198693 exon1 c.C319A p.P107T 0.227436 0.369 0.205629 0.1951 0.3407 0.17 T 0.0 P -0.951 T 0.124 T 0.084 T Pathogenic 21_45971299_T->C 21 45971299 45971299 T C snp 168.77 0/1 99 18 8 10 0.56 exonic KRTAP10-2 AU nonsynonymous SNV NM_198693 exon1 c.A43G p.N15D 0.216653 0.371 0.188605 0.2032 0.3722 1 T 0.0 P -0.966 T 0.0 T 0.0 T ID=COSM50652;OCCURENCE=1(large_intestine),1(urinary_tract) Pathogenic 21_45971380_-->GTGAGTGAGTGT 21 45971380 45971380 - GTGAGTGAGTGT indel 608.77 1/1 21 10 0 10 1.0 UTR5 KRTAP10-2 AU 0.791933 0.7609 0.793305 0.7725 0.7498 Uncertain 21_45971426_C->T 21 45971426 45971426 C T snp 46.77 0/1 33 4 2 2 0.5 intronic TSPEAR AR NM_001272037 exon11 c.68003-16242C>T 0.242812 0.369 Uncertain 21_45978090_C->T 21 45978090 45978090 C T snp 572.77 1/1 45 17 0 17 1.0 exonic KRTAP10-3 AU nonsynonymous SNV NM_198696 exon1 c.G509A p.C170Y 0.86901 0.7649 0.930186 0.9196 0.7343 0.24 T 0.039 P -1.005 T 0.0 T 0.006 T Pathogenic 21_45978488_G->A 21 45978488 45978488 G A snp 464.77 0/1 99 32 13 19 0.59 exonic KRTAP10-3 AU synonymous SNV NM_198696 exon1 c.C111T p.C37C 0.252995 0.128 0.348817 0.3741 0.1214 Uncertain 21_45978499_T->G 21 45978499 45978499 T G snp 1015.77 1/1 72 37 0 37 1.0 exonic KRTAP10-3 AU nonsynonymous SNV NM_198696 exon1 c.A100C p.T34P 0.869209 0.754 0.929410 0.9201 0.7296 1 T 0.000 P -1.016 T 0.0 T 0.0 T Pathogenic 21_45978503_G->A 21 45978503 45978503 G A snp 1003.77 1/1 72 37 0 37 1.0 exonic KRTAP10-3 AU synonymous SNV NM_198696 exon1 c.C96T p.C32C 0.868011 0.753 0.928371 0.9194 0.7294 Uncertain 21_45993746_C->T 21 45993746 45993746 C T snp 264.77 0/1 99 19 7 12 0.63 exonic KRTAP10-4 AU synonymous SNV NM_198687 exon1 c.C111T p.C37C 0.140176 0.1627 0.114824 0.1361 0.1486 Uncertain 21_45994843_G->C 21 45994843 45994843 G C snp 330.77 0/1 99 37 22 15 0.41 UTR3 KRTAP10-4 AU 0.116014 0.3085 0.050201 0.1005 0.3028 Uncertain 21_46000398_C->T 21 46000398 46000398 C T snp 243.77 0/1 99 33 21 12 0.36 exonic KRTAP10-5 AU nonsynonymous SNV NM_198694 exon1 c.G58A p.D20N 0.36901 0.4425 0.298185 0.3192 0.4555 0.07 T 0.030 P -0.988 T 0.455 P 0.179 P Pathogenic 21_46011170_T->C 21 46011170 46011170 T C snp 54.77 0/1 83 12 9 3 0.25 UTR3 KRTAP10-6 AU Uncertain 21_46011298_G->A 21 46011298 46011298 G A snp 143.77 0/1 99 55 43 12 0.22 exonic KRTAP10-6 AU synonymous SNV NM_198688 exon1 c.C1068T p.S356S 0.0158 0.0507 Uncertain 21_46011468_G->A 21 46011468 46011468 G A snp 659.77 0/1 99 48 22 26 0.54 exonic KRTAP10-6 AU nonsynonymous SNV NM_198688 exon1 c.C898T p.P300S 0.501997 0.4435 0.562538 0.6373 0.4312 0.02 T 0.014 P -1.146 T 1.0 D 1.0 D Pathogenic 21_46011583_G->T 21 46011583 46011583 G T snp 127.77 0/1 99 11 5 6 0.55 exonic KRTAP10-6 AU stopgain NM_198688 exon1 c.C783A p.C261X 0.216254 0.3214 0.216208 0.2229 0.3134 1 T 1.000 P Pathogenic 21_46012240_A->G 21 46012240 46012240 A G snp 550.77 1/1 42 19 0 19 1.0 exonic KRTAP10-6 AU synonymous SNV NM_198688 exon1 c.T126C p.C42C 0.8627 0.6757 Uncertain 21_46012524_T->C 21 46012524 46012524 T C snp 139.03 1/1 12 4 0 4 1.0 intronic TSPEAR AR NM_001272037 exon11 c.68224+24635T>C 0.870807 0.8185 Uncertain 21_46020473_-->TCAT 21 46020473 46020473 - TCAT indel 2897.73 1/1 99 45 0 45 1.0 intronic rs113686885 TSPEAR AR NM_001272037 exon11 c.68224+32584insTCAT 0.803914 0.8304 0.8761 0.7773 Uncertain 21_46020527_C->T 21 46020527 46020527 C T snp 1990.77 1/1 70 78 3 75 0.96 exonic KRTAP10-7 AU synonymous SNV NM_198689 exon1 c.C6T p.A2A 0.787939 0.8264 0.838858 0.8847 0.8065 Uncertain 21_46021088_C->T 21 46021088 46021088 C T snp 550.98 1/1 13 20 4 16 0.8 exonic KRTAP10-7 AU synonymous SNV NM_198689 exon2 c.C552T p.S184S 0.7093 0.5779 Uncertain 21_46021179_C->A 21 46021179 46021179 C A snp 3089.77 1/1 99 117 7 110 0.94 exonic KRTAP10-7 AU nonsynonymous SNV NM_198689 exon2 c.C643A p.Q215K 0.774561 0.8234 0.8746 0.8009 0.17 T 0.237 P -1.045 T 0.886 T 0.298 P Pathogenic 21_46021205_C->T 21 46021205 46021205 C T snp 3623.77 1/1 99 141 4 137 0.97 exonic KRTAP10-7 AU synonymous SNV NM_198689 exon2 c.C669T p.P223P 0.776558 0.8234 0.821544 0.8803 0.8069 Uncertain 21_46021370_T->C 21 46021370 46021370 T C snp 4396.77 1/1 99 155 1 154 0.99 exonic KRTAP10-7 AU synonymous SNV NM_198689 exon2 c.T834C p.P278P 0.777756 0.8254 0.825081 0.8808 0.8064 Uncertain 21_46021390_G->C 21 46021390 46021390 G C snp 3501.77 1/1 99 127 1 126 0.99 exonic KRTAP10-7 AU nonsynonymous SNV NM_198689 exon2 c.G854C p.S285T 0.777756 0.8254 0.824773 0.8807 0.8066 0.48 T 0.0 P -0.965 T 0.0 T 0.001 T Pathogenic 21_46021481_T->C 21 46021481 46021481 T C snp 2923.77 1/1 99 87 0 87 1.0 exonic KRTAP10-7 AU synonymous SNV NM_198689 exon2 c.T945C p.P315P 0.777955 0.8244 0.798967 0.8807 0.8009 Uncertain 21_46021494_A->G 21 46021494 46021494 A G snp 2883.77 1/1 99 85 0 85 1.0 exonic KRTAP10-7 AU nonsynonymous SNV NM_198689 exon2 c.A958G p.T320A 0.778754 0.8254 0.813783 0.8811 0.7996 1 T 0.000 P -1.001 T 0.0 T 0.0 T Pathogenic 21_46021607_A->G 21 46021607 46021607 A G snp 4294.77 1/1 99 165 0 165 1.0 exonic KRTAP10-7 AU synonymous SNV NM_198689 exon2 c.A1071G p.P357P 0.777157 0.8254 0.826532 0.8818 0.8066 Uncertain 21_46021759_A->G 21 46021759 46021759 A G snp 1017.77 1/1 75 27 0 27 1.0 UTR3 KRTAP10-7 AU 0.777556 0.8244 Uncertain 21_46032094_A->G 21 46032094 46032094 A G snp 3567.77 1/1 99 135 0 135 1.0 exonic KRTAP10-8 AU nonsynonymous SNV NM_198695 exon1 c.A77G p.H26R 0.901158 0.8185 0.941489 0.9238 0.8096 0.26 T 0.0 P -1.042 T 0.0 T 0.0 T Pathogenic 21_46047418_C->T 21 46047418 46047418 C T snp 2192.77 0/1 99 196 96 100 0.51 exonic KRTAP10-9 AU synonymous SNV NM_198690 exon1 c.C330T p.C110C 0.787141 0.6746 0.779385 0.7533 0.6654 Uncertain 21_46047633_A->G 21 46047633 46047633 A G snp 2657.77 0/1 99 247 131 116 0.47 exonic KRTAP10-9 AU nonsynonymous SNV NM_198690 exon1 c.A545G p.Y182C 0.637181 0.6667 0.626941 0.6687 0.6568 0.0 P -0.979 T 0.0 T 0.0 T Pathogenic 21_46047710_T->C 21 46047710 46047710 T C snp 1868.77 0/1 99 159 80 79 0.5 exonic KRTAP10-9 AU synonymous SNV NM_198690 exon1 c.T622C p.L208L 0.648163 0.6637 0.638628 0.6700 0.6572 Uncertain 21_46047857_C->T 21 46047857 46047857 C T snp 1027.77 0/1 99 108 65 43 0.4 exonic KRTAP10-9 AU nonsynonymous SNV NM_198690 exon1 c.C769T p.R257C 0.626597 0.6488 0.624038 0.6636 0.6476 0.157 P -1.080 T 0.041 T 0.023 T Pathogenic 21_46047925_G->T 21 46047925 46047925 G T snp 938.77 0/1 99 99 57 42 0.42 exonic KRTAP10-9 AU synonymous SNV NM_198690 exon1 c.G837T p.P279P 0.632788 0.6627 0.631278 0.6658 0.6568 Uncertain 21_46047971_T->C 21 46047971 46047971 T C snp 921.77 0/1 99 85 42 43 0.51 UTR3 KRTAP10-9 AU 0.785743 0.7103 0.771437 0.7560 0.7119 Uncertain 21_46048053_G->C 21 46048053 46048053 G C snp 330.77 0/1 99 22 11 11 0.5 UTR3 KRTAP10-9 AU Uncertain 21_46048060_A->G 21 46048060 46048060 A G snp 336.77 0/1 99 21 10 11 0.52 UTR3 KRTAP10-9 AU 0.558307 0.5635 Uncertain 21_46057393_T->A 21 46057393 46057393 T A snp 406.77 0/1 99 44 24 20 0.45 exonic KRTAP10-10 AU nonsynonymous SNV NM_181688 exon1 c.T59A p.V20D 0.781749 0.6468 0.767107 0.7493 0.6336 1 T 0.344 P -1.038 T 0.0 T 0.0 T Pathogenic 21_46057548_A->C 21 46057548 46057548 A C snp 1318.77 0/1 99 97 43 54 0.56 exonic KRTAP10-10 AU nonsynonymous SNV NM_181688 exon1 c.A214C p.T72P 0.778355 0.6786 0.767646 0.7504 0.6727 1 T 0.0 P -1.061 T 0.0 T 0.0 T Pathogenic 21_46057613_CTGCTGTGTGCCTGT->- 21 46057613 46057627 CTGCTGTGTGCCTGT - indel 9670.73 0/1 99 135 64 71 0.53 exonic KRTAP10-10 AU nonframeshift deletion NM_181688 exon1 c.279_293del p.93_98del 0.497804 0.37 0.553834 0.5073 0.3934 Uncertain 21_46057806_G->A 21 46057806 46057806 G A snp 1349.77 0/1 99 127 69 58 0.46 exonic KRTAP10-10 AU nonsynonymous SNV NM_181688 exon1 c.G472A p.V158M 0.603435 0.6667 0.599416 0.6514 0.6644 0.1 T 0.0 P -1.089 T 0.642 T 0.574 P Pathogenic 21_46057958_C->T 21 46057958 46057958 C T snp 385.77 0/1 99 47 24 23 0.49 exonic KRTAP10-10 AU synonymous SNV NM_181688 exon1 c.C624T p.S208S 0.640176 0.6687 0.621867 0.7023 0.6534 Uncertain 21_46058034_G->A 21 46058034 46058034 G A snp 119.77 0/1 99 31 21 10 0.32 exonic KRTAP10-10 AU nonsynonymous SNV NM_181688 exon1 c.G700A p.V234M 0.005383 0.0098 0.0268 0.14 T 1 N -0.967 T 0.045 T 0.032 T Pathogenic 21_46058060_C->T 21 46058060 46058060 C T snp 112.77 0/1 99 33 26 7 0.21 exonic KRTAP10-10 AU synonymous SNV NM_181688 exon1 c.C726T p.S242S 0.355831 0.3333 0.351701 0.3825 0.3477 Uncertain 21_46066764_C->T 21 46066764 46066764 C T snp 1428.77 0/1 99 126 63 63 0.5 exonic KRTAP10-11 AU nonsynonymous SNV NM_198692 exon1 c.C389T p.S130F 0.777356 0.6548 0.771106 0.7484 0.6478 0 D 0.892 P -1.103 T 1.0 D 0.999 D Pathogenic 21_46067180_C->T 21 46067180 46067180 C T snp 1929.77 0/1 99 121 43 78 0.64 exonic KRTAP10-11 AU nonsynonymous SNV NM_198692 exon1 c.C805T p.R269C 0.816094 0.6796 0.841595 0.7801 0.6479 0.06 T 0.068 P -0.939 T 1.0 D 0.895 D Pathogenic 21_46074104_T->C 21 46074104 46074104 T C snp 227.77 0/1 99 19 9 10 0.53 intronic TSPEAR AR NM_001272037 exon12 c.190794-36355T>C 0.789537 0.6637 Uncertain 21_46074202_A->G 21 46074202 46074202 A G snp 694.77 0/1 99 71 41 30 0.42 exonic KRTAP12-4 AU synonymous SNV NM_198698 exon1 c.T330C p.T110T 0.785144 0.6458 0.771096 0.7453 0.6361 Uncertain 21_46077812_A->G 21 46077812 46077812 A G snp 396.77 0/1 99 35 18 17 0.49 intronic TSPEAR AR NM_001272037 exon12 c.190794-32647A>G 0.789736 0.6637 Uncertain 21_46077946_A->G 21 46077946 46077946 A G snp 1944.77 0/1 99 152 77 75 0.49 exonic KRTAP12-3 AU nonsynonymous SNV NM_198697 exon1 c.A50G p.H17R 0.789537 0.6637 0.772600 0.7466 0.6582 0.06 T 0.0 P -1.071 T 0.0 T 0.0 T Pathogenic 21_46078220_T->C 21 46078220 46078220 T C snp 277.77 0/1 99 25 16 9 0.36 UTR3 KRTAP12-3 AU 0.740815 0.6627 0.709826 0.7046 0.6591 Uncertain 21_46086377_A->G 21 46086377 46086377 A G snp 878.77 0/1 99 43 16 27 0.63 exonic KRTAP12-2 AU nonsynonymous SNV NM_181684 exon1 c.T427C p.S143P 0.582668 0.5655 0.529947 0.5099 0.5596 1 T 0.0 P -1.042 T 0.0 T 0.0 T Pathogenic 21_46086718_G->C 21 46086718 46086718 G C snp 2991.77 0/1 99 241 116 125 0.52 exonic KRTAP12-2 AU nonsynonymous SNV NM_181684 exon1 c.C86G p.S29C 0.613019 0.5675 0.217069 0.5437 0.5542 0.46 T 0.0 P -0.976 T 0.983 D 0.665 D Pathogenic 21_46086719_A->G 21 46086719 46086719 A G snp 3062.77 0/1 99 240 115 125 0.52 exonic rs7276859 KRTAP12-2 AU nonsynonymous SNV NM_181684 exon1 c.T85C p.S29P 0.613019 0.5675 0.212970 0.5439 0.5543 0.94 T 0.0 P -0.943 T 0.0 T 0.001 T Pathogenic 21_46086757_G->A 21 46086757 46086757 G A snp 2273.77 0/1 99 177 87 90 0.51 exonic KRTAP12-2 AU nonsynonymous SNV NM_181684 exon1 c.C47T p.A16V 0.771565 0.6597 0.751018 0.7390 0.6487 0.31 T 0.0 P -1.071 T 0.002 T 0.003 T Pathogenic 21_46086758_C->T 21 46086758 46086758 C T snp 2348.77 0/1 99 176 85 91 0.52 exonic KRTAP12-2 AU nonsynonymous SNV NM_181684 exon1 c.G46A p.A16T 0.771166 0.6597 0.749609 0.7386 0.6478 0.31 T 0.0 P -1.102 T 0.002 T 0.005 T Pathogenic 21_46086868_C->T 21 46086868 46086868 C T snp 32.77 0/1 61 5 3 2 0.4 intronic TSPEAR AR NM_001272037 exon12 c.190794-23591C>T 0.740216 0.6577 Uncertain 21_46102090_T->C 21 46102090 46102090 T C snp 144.77 0/1 99 10 5 5 0.5 intronic TSPEAR AR NM_001272037 exon12 c.190794-8369T>C 0.670327 0.6071 0.669438 0.6528 0.6071 Uncertain 21_46191174_A->G 21 46191174 46191174 A G snp 50.74 1/1 6 2 0 2 1.0 UTR3 UBE2G2 AU 0.78155 0.7669 Uncertain 21_46191270_C->T 21 46191270 46191270 C T snp 1773.77 1/1 99 64 1 63 0.98 UTR3 UBE2G2 AU 0.795527 0.7669 0.793787 0.7575 0.8271 Uncertain 21_46191447_T->C 21 46191447 46191447 T C snp 2760.77 1/1 99 100 0 100 1.0 intronic UBE2G2 AU NM_001202489 exon1 c.113+43T>C 0.207468 0.5605 0.077733 0.1683 0.6064 Uncertain 21_46221847_A->G 21 46221847 46221847 A G snp 53.74 1/1 6 3 0 3 1.0 upstream LINC01424 AU 0.796526 0.7679 Uncertain 21_46233836_C->A 21 46233836 46233836 C A snp 2698.77 1/1 99 98 0 98 1.0 exonic rs2838697 SUMO3 AU nonsynonymous SNV NM_001286416 exon2 c.G205T p.V69F 0.303514 0.5556 0.2046 0.6116 0.12 T 0.0 P -0.947 T 0.104 T 0.046 T Pathogenic 21_46234079_T->A 21 46234079 46234079 T A snp 1112.77 1/1 81 41 0 41 1.0 intronic rs9306116 SUMO3 AU NM_006936 exon3 c.7154+60T>A 0.381589 0.5585 Uncertain 21_46271452_C->T 21 46271452 46271452 C T snp 1547.77 0/1 99 121 58 63 0.52 UTR3 rs235314 PTTG1IP AU 0.434704 0.377 0.480471 0.4906 0.4034 0.56 T 0.0 P -0.911 T 0.001 T 0.001 T Uncertain 21_46271660_A->G 21 46271660 46271660 A G snp 626.77 1/1 48 17 0 17 1.0 intronic rs235315 PTTG1IP AU NM_004339 exon1 c.47+118A>G 0.721446 0.7788 Uncertain 21_46275047_A->C 21 46275047 46275047 A C snp 463.77 0/1 99 44 24 20 0.45 intronic rs235317 PTTG1IP AU NM_004339 exon2 c.3629-77A>C 0.482228 0.4861 Uncertain 21_46281314_T->C 21 46281314 46281314 T C snp 1144.77 1/1 84 35 0 35 1.0 intronic rs235276 PTTG1IP AU NM_004339 exon4 c.9691+128T>C 0.758187 0.7867 Uncertain 21_46285561_C->T 21 46285561 46285561 C T snp 56.74 1/1 6 2 0 2 1.0 intronic rs235282 PTTG1IP AU NM_004339 exon5 c.13867+199C>T 0.716653 0.7867 Uncertain 21_46293692_T->C 21 46293692 46293692 T C snp 529.77 0/1 99 35 14 21 0.6 UTR5 rs235373 PTTG1IP AU 0.547125 0.497 Uncertain 21_46306138_G->T 21 46306138 46306138 G T snp 37.77 0/1 66 4 2 2 0.5 UTR3 rs1160263 ITGB2 AR 0.159345 0.2312 ID=CR1314278;DIS=Biliary atresia, association with;TAG=DFP;PUB=23921155 DFP Uncertain 21_46306594_G->A 21 46306594 46306594 G A snp 882.77 0/1 99 62 30 32 0.52 intronic rs33973568 ITGB2 AR NM_001303238 exon2 c.368-56G>A 0.158347 0.3899 CLINSIG=untested;CLNDBN=Leukocyte_adhesion_deficiency_type_1;CLNREVSTAT=no_assertion_provided;CLNACC=RCV000087113.1;CLNDSDB=MedGen:OMIM:Orphanet:Orphanet;CLNDSDBID=C1861766:116920:ORPHA2968:ORPHA99842 Uncertain 21_46308850_-->G 21 46308850 46308850 - G indel 992.73 1/1 87 37 0 37 1.0 intronic rs34020918 ITGB2 AR NM_001303238 exon3 c.2528+40insG 0.128195 0.3681 0.054348 0.0903 0.4056 CLINSIG=untested;CLNDBN=Leukocyte_adhesion_deficiency_type_1;CLNREVSTAT=no_assertion_provided;CLNACC=RCV000087111.1;CLNDSDB=MedGen:OMIM:Orphanet:Orphanet;CLNDSDBID=C1861766:116920:ORPHA2968:ORPHA99842 Uncertain 21_46311813_A->G 21 46311813 46311813 A G snp 4916.77 1/1 99 195 1 194 0.99 exonic rs235326 ITGB2 AR synonymous SNV NM_000211 exon11 c.T1323C p.V441V 0.762979 0.75 0.750154 0.6888 0.8034 Uncertain 21_46313442_G->T 21 46313442 46313442 G T snp 705.77 0/1 99 70 39 31 0.44 exonic rs2230529 ITGB2 AR synonymous SNV NM_000211 exon10 c.C1101A p.V367V 0.199081 0.0893 0.240889 0.2307 0.1096 CLINSIG=untested;CLNDBN=Leukocyte_adhesion_deficiency_type_1;CLNREVSTAT=no_assertion_provided;CLNACC=RCV000087108.1;CLNDSDB=MedGen:OMIM:Orphanet:Orphanet;CLNDSDBID=C1861766:116920:ORPHA2968:ORPHA99842 Uncertain 21_46314907_T->A 21 46314907 46314907 T A snp 3956.77 1/1 99 148 0 148 1.0 exonic rs235330 ITGB2 AR nonsynonymous SNV NM_000211 exon9 c.A1062T p.Q354H 1 1 0.999846 0.9999 1 0.02 T 0.382 P -0.945 T 0.824 T 0.575 P CLINSIG=untested;CLNDBN=Leukocyte_adhesion_deficiency_type_1;CLNREVSTAT=no_assertion_provided;CLNACC=RCV000087107.1;CLNDSDB=MedGen:OMIM:Orphanet:Orphanet;CLNDSDBID=C1861766:116920:ORPHA2968:ORPHA99842 Pathogenic 21_46315022_C->T 21 46315022 46315022 C T snp 529.77 0/1 99 54 31 23 0.43 intronic rs2838725 ITGB2 AR NM_001303238 exon8 c.8693+47C>T 0.207268 0.0903 0.253498 0.2351 0.1104 CLINSIG=untested;CLNDBN=Leukocyte_adhesion_deficiency_type_1;CLNREVSTAT=no_assertion_provided;CLNACC=RCV000087129.1;CLNDSDB=MedGen:OMIM:Orphanet:Orphanet;CLNDSDBID=C1861766:116920:ORPHA2968:ORPHA99842 Uncertain 21_46318940_A->G 21 46318940 46318940 A G snp 6061.77 1/1 99 225 0 225 1.0 intronic rs2838728 ITGB2 AR NM_001303238 exon9 c.12699-41A>G 0.283347 0.4067 0.204706 0.2205 0.4582 Uncertain 21_46328099_T->C 21 46328099 46328099 T C snp 523.77 0/1 99 50 31 19 0.38 intronic rs760462 ITGB2 AR NM_001303238 exon13 c.20728+1089T>C 0.893171 0.7956 0.874956 0.8650 0.7777 0.000 P Uncertain 21_46330628_C->T 21 46330628 46330628 C T snp 2081.77 0/1 99 192 102 90 0.47 intronic rs2280965 ITGB2 AR NM_001303238 exon15 c.24357-11C>T 0.148163 0.3304 0.083192 0.1291 0.2964 CLINSIG=untested;CLNDBN=Leukocyte_adhesion_deficiency_type_1;CLNREVSTAT=no_assertion_provided;CLNACC=RCV000087121.1;CLNDSDB=MedGen:OMIM:Orphanet:Orphanet;CLNDSDBID=C1861766:116920:ORPHA2968:ORPHA99842 Uncertain 21_46354055_A->G 21 46354055 46354055 A G snp 1486.77 1/1 99 49 0 49 1.0 ncRNA_exonic rs9974172 LINC01547 AU 0.90655 0.881 Uncertain 21_46355531_A->G 21 46355531 46355531 A G snp 1632.77 0/1 99 159 82 77 0.48 ncRNA_intronic rs11088970 LINC01547 AU 0.463059 0.245 0.505037 0.4554 0.2422 Uncertain 21_46355710_A->G 21 46355710 46355710 A G snp 1407.77 0/1 99 108 47 61 0.56 ncRNA_exonic rs11088971 LINC01547 AU 0.462859 0.245 0.502628 0.3682 0.2329 Uncertain 21_46355833_A->G 21 46355833 46355833 A G snp 221.77 0/1 99 18 9 9 0.5 ncRNA_intronic rs11701737 LINC01547 AU 0.463059 0.245 0.503066 0.4701 0.2673 Uncertain 21_46357365_A->G 21 46357365 46357365 A G snp 34.77 0/1 63 6 4 2 0.33 ncRNA_intronic rs4818991 LINC01547 AU 0.463059 0.245 Uncertain 21_46359427_A->G 21 46359427 46359427 A G snp 701.77 0/1 99 54 26 28 0.52 ncRNA_intronic rs12482042 LINC01547 AU 0.152157 0.1429 Uncertain 21_46387285_G->A 21 46387285 46387285 G A snp 66.77 0/1 69 5 2 3 0.6 intronic rs2294167 FAM207A AU NM_058190 exon4 c.27124+189G>A 0.076877 0.1329 Uncertain 21_46389017_C->A 21 46389017 46389017 C A snp 392.77 0/1 99 44 28 16 0.36 intronic rs12106383 FAM207A AU NM_058190 exon4 c.27124+1921C>A 0.431709 0.6429 0.5509 0.6373 Uncertain 21_46389189_C->T 21 46389189 46389189 C T snp 141.77 0/1 99 11 6 5 0.45 intronic rs12106389 FAM207A AU NM_058190 exon4 c.27124+2093C>T 0.582867 0.745 0.6983 0.7731 Uncertain 21_46392875_G->A 21 46392875 46392875 G A snp 249.77 0/1 99 13 5 8 0.62 intronic rs7276113 FAM207A AU NM_058190 exon5 c.33139-236G>A Uncertain 21_46393090_C->T 21 46393090 46393090 C T snp 1027.77 0/1 99 92 45 47 0.51 intronic rs3827260 FAM207A AU NM_058190 exon5 c.33139-21C>T 0.586462 0.744 0.531447 0.6381 0.7162 Uncertain 21_46572572_A->G 21 46572572 46572572 A G snp 3392.77 1/1 99 124 0 124 1.0 intronic rs420085 ADARB1 AU 0.982029 1 0.9766 1 Uncertain 21_46641017_A->G 21 46641017 46641017 A G snp 429.77 0/1 99 18 5 13 0.72 intronic rs2838818 ADARB1 AU NM_015833 exon11 c.49358+88A>G 0.496605 0.5615 Uncertain 21_46641968_G->A 21 46641968 46641968 G A snp 2958.77 0/1 99 250 129 121 0.48 exonic rs1051367 ADARB1 AU synonymous SNV NM_015833 exon12 c.G2082A p.K694K 0.49401 0.5595 0.496924 0.5238 0.5738 0.33 T 1.000 P -0.944 T Likely benign 21_46685592_C->G 21 46685592 46685592 C G snp 740.77 0/1 99 68 36 32 0.47 UTR3 rs1006887 POFUT2 AU 0.745607 0.8006 0.645083 0.5849 0.6327 Uncertain 21_46825214_G->C 21 46825214 46825214 G C snp 283.77 0/1 99 20 6 14 0.7 intronic rs113272297 COL18A1 AR NM_130445 exon1 c.11+58G>C Uncertain 21_46825223_G->C 21 46825223 46825223 G C snp 284.77 0/1 96 20 5 15 0.75 intronic rs60499034 COL18A1 AR NM_130445 exon1 c.11+67G>C Uncertain 21_46841397_C->T 21 46841397 46841397 C T snp 1062.77 0/1 99 103 57 46 0.45 ncRNA_exonic rs59864413 COL18A1-AS1 AU 0.0119808 0.0565 0.0052 0.0490 Uncertain 21_46875564_T->C 21 46875564 46875564 T C snp 7507.77 1/1 99 250 0 250 1.0 exonic rs914230 COL18A1 AR synonymous SNV NM_030582 exon1 c.T120C p.H40H 0.988419 1 0.969331 0.9705 0.9999 Uncertain 21_46876083_A->G 21 46876083 46876083 A G snp 1451.77 0/1 99 109 45 64 0.59 exonic rs2236451 COL18A1 AR synonymous SNV NM_030582 exon1 c.A639G p.P213P 0.375599 0.3284 0.382926 0.3437 0.3322 Uncertain 21_46876173_C->T 21 46876173 46876173 C T snp 1175.77 0/1 99 94 45 49 0.52 intronic rs2236452 COL18A1 AR NM_030582 exon1 c.646+83C>T 0.208267 0.1558 0.206286 0.2640 0.2181 Uncertain 21_46876306_G->A 21 46876306 46876306 G A snp 1795.77 0/1 99 189 113 76 0.4 intronic rs11702494 COL18A1 AR NM_030582 exon1 c.646+216G>A 0.200879 0.124 0.253395 0.2257 0.1320 0.05 T 0.0 P -1.015 T 0.006 T 0.001 T Uncertain 21_46876580_C->T 21 46876580 46876580 C T snp 1964.77 0/1 99 132 50 82 0.62 intronic rs8133886 COL18A1 AR NM_130444 exon1 c.1351-215C>T 0.426518 0.4623 0.3559 0.5082 0 D 0.0 P -0.906 T 1.0 D 0.959 D Uncertain 21_46895522_AT->- 21 46895522 46895523 AT - indel 1549.73 0/1 99 59 27 32 0.54 intronic rs35616809 COL18A1 AR NM_030582 exon4 c.20005+73_20005+74delAT 0.173323 0.1349 0.180132 Uncertain 21_46896458_T->G 21 46896458 46896458 T G snp 837.77 0/1 99 74 42 32 0.43 intronic rs80289899 COL18A1 AR NM_030582 exon5 c.20950+64T>G 0.199281 0.1498 Uncertain 21_46896489_T->G 21 46896489 46896489 T G snp 548.77 0/1 99 41 23 18 0.44 intronic rs79633299 COL18A1 AR NM_030582 exon5 c.20950+95T>G 0.185104 0.1498 Uncertain 21_46897214_C->T 21 46897214 46897214 C T snp 34.77 0/1 63 7 5 2 0.29 intronic rs9976834 COL18A1 AR NM_030582 exon6 c.21880-110C>T 0.134984 0.12 Uncertain 21_46898174_T->C 21 46898174 46898174 T C snp 956.77 0/1 99 58 22 36 0.62 intronic rs2236464 COL18A1 AR NM_030582 exon8 c.22796-66T>C 0.248203 0.2758 0.215068 0.2251 0.2485 Uncertain 21_46899947_G->A 21 46899947 46899947 G A snp 1189.77 0/1 99 106 56 50 0.47 intronic rs9979845 COL18A1 AR NM_030582 exon10 c.24539-36G>A 0.170527 0.1488 0.192320 0.2053 0.1332 Uncertain 21_46900214_G->A 21 46900214 46900214 G A snp 811.77 0/1 99 55 20 35 0.64 intronic rs9980181 COL18A1 AR NM_030582 exon10 c.24626+144G>A 0.170527 0.1488 Uncertain 21_46900546_C->T 21 46900546 46900546 C T snp 871.77 0/1 99 87 49 38 0.44 intronic rs28608951 COL18A1 AR NM_030582 exon12 c.25169-67C>T 0.326677 0.254 Uncertain 21_46900856_C->T 21 46900856 46900856 C T snp 150.77 0/1 99 15 9 6 0.4 intronic rs9983599 COL18A1 AR NM_030582 exon12 c.25328+84C>T 0.170527 0.1488 Uncertain 21_46901973_A->C 21 46901973 46901973 A C snp 911.77 0/1 99 85 48 37 0.44 intronic rs12482088 COL18A1 AR NM_030582 exon13 c.26495+34A>C 0.208267 0.1488 0.229777 0.2265 0.1372 Uncertain 21_46902180_T->C 21 46902180 46902180 T C snp 1222.77 0/1 99 138 82 56 0.41 intronic rs12482563 COL18A1 AR NM_030582 exon13 c.26495+241T>C 0.335264 0.2569 Uncertain 21_46902273_A->G 21 46902273 46902273 A G snp 1089.77 0/1 99 111 67 44 0.4 intronic rs2236468 COL18A1 AR NM_030582 exon13 c.26495+334A>G 0.494209 0.4752 0.466526 0.4720 0.5139 Uncertain 21_46902380_G->A 21 46902380 46902380 G A snp 290.77 0/1 99 21 10 11 0.52 intronic rs12482373 COL18A1 AR NM_030582 exon14 c.27264-328G>A 0.170927 0.1488 Uncertain 21_46902390_G->A 21 46902390 46902390 G A snp 304.77 0/1 99 16 6 10 0.63 intronic rs2236469 COL18A1 AR NM_030582 exon14 c.27264-318G>A 0.170927 0.1488 Uncertain 21_46902488_T->C 21 46902488 46902488 T C snp 330.77 0/1 99 24 13 11 0.46 intronic rs185976813 COL18A1 AR NM_030582 exon14 c.27264-220T>C 0.00179712 0.0089 Uncertain 21_46906627_C->T 21 46906627 46906627 C T snp 172.77 0/1 99 13 6 7 0.54 intronic rs2274808 COL18A1 AR NM_030582 exon15 c.31330-147C>T 0.169329 0.1429 Uncertain 21_46906711_G->A 21 46906711 46906711 G A snp 336.77 0/1 99 30 15 15 0.5 intronic rs2274809 COL18A1 AR NM_030582 exon15 c.31330-63G>A 0.355032 0.376 Uncertain 21_46907287_C->T 21 46907287 46907287 C T snp 518.77 0/1 99 39 17 22 0.56 intronic rs9977268 COL18A1 AR NM_030582 exon16 c.31916-73C>T 0.158746 0.1488 Uncertain 21_46907479_G->A 21 46907479 46907479 G A snp 918.77 0/1 99 85 42 43 0.51 intronic rs9976784 COL18A1 AR NM_030582 exon16 c.31979+56G>A 0.185703 0.1488 0.199068 0.1918 0.1352 Uncertain 21_46908355_T->C 21 46908355 46908355 T C snp 2642.77 0/1 99 239 121 118 0.49 exonic rs11702425 COL18A1 AR synonymous SNV NM_030582 exon17 c.T2460C p.L820L 0.319888 0.254 0.312868 0.3052 0.2388 Uncertain 21_46909516_G->A 21 46909516 46909516 G A snp 1037.77 0/1 99 105 58 47 0.45 intronic rs8131819 COL18A1 AR NM_030582 exon18 c.33991+81G>A 0.16254 0.1468 Uncertain 21_46910321_T->C 21 46910321 46910321 T C snp 434.77 0/1 99 57 39 18 0.32 intronic rs2838947 COL18A1 AR NM_030582 exon19 c.34816+61T>C 0.270767 0.247 0.270650 Uncertain 21_46910398_G->A 21 46910398 46910398 G A snp 236.77 0/1 99 19 9 10 0.53 intronic rs111450913 COL18A1 AR NM_030582 exon19 c.34816+138G>A Uncertain 21_46910408_C->G 21 46910408 46910408 C G snp 190.77 0/1 99 14 6 8 0.57 intronic rs552856971 COL18A1 AR NM_030582 exon19 c.34816+148C>G 0.277556 0.1786 Uncertain 21_46910409_C->T 21 46910409 46910409 C T snp 155.77 0/1 99 12 6 6 0.5 intronic rs577554539 COL18A1 AR NM_030582 exon19 c.34816+149C>T 0.277556 0.1786 Uncertain 21_46910415_T->C 21 46910415 46910415 T C snp 189.77 0/1 99 11 4 7 0.64 intronic rs74504453 COL18A1 AR NM_030582 exon19 c.34816+155T>C 0.403155 0.3889 Uncertain 21_46910423_T->C 21 46910423 46910423 T C snp 31.77 0/1 60 10 7 3 0.3 intronic COL18A1 AR NM_030582 exon19 c.34816+163T>C Uncertain 21_46910426_G->A 21 46910426 46910426 G A snp 140.77 0/1 99 10 4 6 0.6 intronic rs151172738 COL18A1 AR NM_030582 exon19 c.34816+166G>A Uncertain 21_46911276_G->T 21 46911276 46911276 G T snp 222.77 0/1 99 29 18 11 0.38 intronic rs62216329 COL18A1 AR NM_030582 exon21 c.35784+48G>T 0.496206 0.4335 0.438922 0.4530 0.4358 Uncertain 21_46912947_C->T 21 46912947 46912947 C T snp 99.28 1/1 9 3 0 3 1.0 intronic rs75227606 COL18A1 AR NM_030582 exon24 c.37632-129C>T 0.153554 0.1478 Uncertain 21_46912970_T->A 21 46912970 46912970 T A snp 248.84 0/1 18 10 1 9 0.9 intronic rs2297289 COL18A1 AR NM_030582 exon24 c.37632-106T>A 0.459665 0.369 Uncertain 21_46913300_G->A 21 46913300 46913300 G A snp 921.77 0/1 99 73 37 36 0.49 intronic rs749625 COL18A1 AR NM_030582 exon25 c.37970-114G>A 0.154553 0.1478 Uncertain 21_46913517_A->G 21 46913517 46913517 A G snp 325.77 0/1 99 27 14 13 0.48 intronic rs749627 COL18A1 AR NM_030582 exon25 c.38045+28A>G 0.520966 0.4722 0.438156 0.4655 0.4672 Uncertain 21_46914261_G->A 21 46914261 46914261 G A snp 85.77 0/1 96 8 3 5 0.63 intronic rs60331963 COL18A1 AR NM_030582 exon26 c.39014-197G>A 0.15615 0.1488 Uncertain 21_46914642_A->G 21 46914642 46914642 A G snp 431.77 0/1 99 23 9 14 0.61 intronic rs9977637 COL18A1 AR NM_030582 exon27 c.39331-133A>G 0.160144 0.1518 Uncertain 21_46916517_C->- 21 46916517 46916517 C - indel 768.73 0/1 99 44 20 24 0.55 intronic rs397867048 COL18A1 AR NM_030582 exon29 c.41038+35delC 0.471446 0.369 0.490014 0.4509 0.3809 Uncertain 21_46917975_G->A 21 46917975 46917975 G A snp 104.77 0/1 99 11 6 5 0.45 intronic rs28434474 COL18A1 AR NM_030582 exon31 c.42131+400G>A 0.21885 0.2113 Uncertain 21_46918574_T->C 21 46918574 46918574 T C snp 720.77 0/1 99 59 28 31 0.53 intronic rs2282120 COL18A1 AR NM_030582 exon31 c.42131+999T>C 0.56849 0.4306 0.5196 0.4267 Uncertain 21_46924209_C->A 21 46924209 46924209 C A snp 373.77 1/1 30 11 0 11 1.0 intronic rs2838949 COL18A1 AR NM_030582 exon33 c.48885-120C>A 0.335463 0.2599 Uncertain 21_46924426_GGCCCCCCA->- 21 46924426 46924434 GGCCCCCCA - indel 4099.73 1/1 99 52 0 52 1.0 exonic rs149296338 COL18A1 AR frameshift deletion NM_030582 exon33 c.3364_3364del p.G1122fs 0.9693 0.9993 ID=COSM1031439;OCCURENCE=1(endometrium) Pathogenic 21_46924931_G->A 21 46924931 46924931 G A snp 1018.77 0/1 99 68 28 40 0.59 intronic rs9980752 COL18A1 AR NM_030582 exon35 c.49603-116G>A 0.215455 0.3175 Uncertain 21_46924977_C->T 21 46924977 46924977 C T snp 1423.77 0/1 99 129 64 65 0.5 intronic rs13048249 COL18A1 AR NM_030582 exon35 c.49603-70C>T 0.108427 0.0159 Uncertain 21_46929467_G->A 21 46929467 46929467 G A snp 520.77 0/1 99 43 21 22 0.51 exonic rs1050351 COL18A1 AR synonymous SNV NM_030582 exon39 c.G3978A p.A1326A 0.503594 0.5744 0.377780 0.5110 0.6410 0.000 P -1.012 T Likely benign 21_46929523_C->- 21 46929523 46929523 C - indel 330.73 0/1 99 34 17 17 0.5 intronic rs3835286 COL18A1 AR NM_030582 exon39 c.54071+8delC 0.554912 0.6181 0.499036 0.4859 0.6375 Uncertain 21_46930384_G->C 21 46930384 46930384 G C snp 48.74 1/1 6 2 0 2 1.0 intronic rs2838953 COL18A1 AR NM_030582 exon40 c.54731+209G>C 0.654952 0.6161 Uncertain 21_46930948_A->C 21 46930948 46930948 A C snp 401.77 0/1 99 26 13 13 0.5 intronic rs116087241 COL18A1 AR NM_030582 exon41 c.55580-76A>C 0.634385 0.6081 Uncertain 21_46930960_A->- 21 46930960 46930960 A - indel 450.73 0/1 99 30 16 14 0.47 intronic rs147164507 COL18A1 AR NM_030582 exon41 c.55580-64delA 0.632788 0.6071 Uncertain 21_46930992_A->C 21 46930992 46930992 A C snp 614.77 0/1 99 70 45 25 0.36 intronic rs56335679 COL18A1 AR NM_030582 exon41 c.55580-32A>C 0.48123 0.5575 0.4588 0.5714 Uncertain 21_46930993_C->A 21 46930993 46930993 C A snp 485.77 0/1 99 71 49 22 0.31 intronic rs55690336 COL18A1 AR NM_030582 exon41 c.55580-31C>A 0.48123 0.5575 0.4608 0.5737 Uncertain 21_46931004_-->AC 21 46931004 46931004 - AC indel 1306.73 0/1 99 82 47 35 0.43 intronic rs148407279 COL18A1 AR NM_030582 exon41 c.55580-20insAC 0.629746 0.6106 0.6287 Uncertain 21_46932328_G->A 21 46932328 46932328 G A snp 1442.77 0/1 99 102 45 57 0.56 UTR3 rs7499 COL18A1 AR 0.467252 0.5863 0.403003 0.4461 0.5838 Uncertain 21_46932383_G->A 21 46932383 46932383 G A snp 749.77 0/1 99 42 17 25 0.6 UTR3 rs8199 COL18A1 AR 0.509385 0.5625 Uncertain 21_46934826_G->A 21 46934826 46934826 G A snp 590.77 0/1 99 43 20 23 0.53 UTR3 rs1051298 SLC19A1 AU 0.524361 0.5635 Uncertain 21_46934861_A->C 21 46934861 46934861 A C snp 853.77 0/1 99 70 35 35 0.5 UTR3 rs1051296 SLC19A1 AU 0.493011 0.5645 0.4910 0.6018 Uncertain 21_46935078_A->- 21 46935078 46935078 A - indel 209.73 0/1 99 50 20 30 0.6 UTR3 rs11284347 SLC19A1 AU 0.589856 0.5833 0.5082 0.5543 Uncertain 21_46936227_-->C 21 46936227 46936227 - C indel 106.84 0/1 16 8 1 7 0.88 intronic rs3833366 SLC19A1 AU NM_194255 exon1 c.483+173insC 0.504193 0.5526 Uncertain 21_46936263_G->C 21 46936263 46936263 G C snp 56.74 1/1 6 2 0 2 1.0 intronic rs1888529 SLC19A1 AU NM_194255 exon1 c.483+209G>C 0.485623 0.5556 Uncertain 21_46951556_A->G 21 46951556 46951556 A G snp 2180.77 0/1 99 197 111 86 0.44 exonic rs12659 SLC19A1 AU synonymous SNV NM_194255 exon3 c.T696C p.P232P 0.553115 0.4752 0.572593 0.5775 0.4886 Uncertain 21_46952094_T->C 21 46952094 46952094 T C snp 1944.77 0/1 99 179 92 87 0.49 intronic rs914231 SLC19A1 AU NM_194255 exon4 c.16491+32T>C 0.514377 0.4722 0.534430 0.5606 0.4843 Uncertain 21_46954343_T->C 21 46954343 46954343 T C snp 1101.77 0/1 99 77 33 44 0.57 intronic rs2330184 SLC19A1 AU NM_001205207 exon5 c.18880-108T>C 0.680911 0.6558 Uncertain 21_46957794_T->C 21 46957794 46957794 T C snp 1554.77 0/1 99 112 40 72 0.64 exonic rs1051266 SLC19A1 AU nonsynonymous SNV NM_194255 exon2 c.A80G p.H27R 0.488618 0.4742 0.509322 0.5770 0.5162 0.37 T 0.994 P -0.984 T 0.001 T 0.0 T ID=CM004369;DIS=Increased homocysteine levels, association with;TAG=DFP;PUB=10993718 DFP Pathogenic 21_46957916_G->A 21 46957916 46957916 G A snp 543.77 0/1 99 25 6 19 0.76 UTR5 rs1131596 SLC19A1 AU 0.475439 0.4742 0.486323 0.5440 0.5062 ID=CR076717;DIS=Reduced expression;TAG=FP;PUB=17404734 FP Uncertain 21_46957982_G->A 21 46957982 46957982 G A snp 180.9 1/1 15 5 0 5 1.0 intronic rs13052294 SLC19A1 AU NM_194255 exon5 c.22351+60G>A 0.486821 0.4742 Uncertain 21_47319732_C->T 21 47319732 47319732 C T snp 54.74 1/1 6 2 0 2 1.0 intronic rs7281622 PCBP3 AU NM_001130141 exon3 c.49537+196C>T 0.40635 0.6915 Uncertain 21_47320312_T->C 21 47320312 47320312 T C snp 224.84 1/1 18 6 0 6 1.0 intronic rs7281469 PCBP3 AU NM_001130141 exon4 c.50505-192T>C 0.410743 0.6915 Uncertain 21_47320377_C->T 21 47320377 47320377 C T snp 695.77 1/1 51 22 0 22 1.0 intronic rs2075891 PCBP3 AU NM_001130141 exon4 c.50505-127C>T 0.40615 0.6915 Uncertain 21_47320425_T->C 21 47320425 47320425 T C snp 1405.77 1/1 99 55 0 55 1.0 intronic rs7281638 PCBP3 AU NM_001130141 exon4 c.50505-79T>C 0.411142 0.6915 0.288217 Uncertain 21_47320605_G->A 21 47320605 47320605 G A snp 867.77 1/1 63 34 1 33 0.97 intronic rs2075890 PCBP3 AU NM_001130141 exon4 c.50538+68G>A 0.411342 0.6915 0.279657 Uncertain 21_47320633_T->C 21 47320633 47320633 T C snp 776.77 1/1 57 27 0 27 1.0 intronic rs2075889 PCBP3 AU NM_001130141 exon4 c.50538+96T>C 0.411342 0.6915 Uncertain 21_47320715_A->G 21 47320715 47320715 A G snp 90.28 1/1 9 3 0 3 1.0 intronic rs2075888 PCBP3 AU NM_001130141 exon4 c.50538+178A>G 0.411342 0.6915 Uncertain 21_47329352_T->C 21 47329352 47329352 T C snp 4591.77 1/1 99 160 0 160 1.0 exonic rs2277812 PCBP3 AU synonymous SNV NM_001130141 exon6 c.T423C p.C141C 0.88139 0.997 0.770227 0.7695 0.9964 Uncertain 21_47359875_G->A 21 47359875 47359875 G A snp 766.77 0/1 99 48 18 30 0.63 intronic rs567954718 PCBP3 AU NM_001130141 exon12 c.89944-68G>A 0.000199681 Uncertain 21_47359924_C->T 21 47359924 47359924 C T snp 637.77 0/1 99 81 51 30 0.37 intronic rs145149906 PCBP3 AU NM_001130141 exon12 c.89944-19C>T 0.0251597 0.006808 0.0252 0.0006 Uncertain 21_47401760_C->G 21 47401760 47401760 C G snp 1314.77 1/1 93 49 0 49 1.0 UTR5 rs7671 COL6A1 AR,AD 0.536542 0.7877 0.428325 0.6132 0.7802 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_multiple_submitters\x2c_no_conflicts;CLNACC=RCV000079729.4;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 21_47404397_A->G 21 47404397 47404397 A G snp 6687.77 1/1 99 242 0 242 1.0 intronic rs3746993 COL6A1 AR,AD NM_001848 exon3 c.2619+14A>G 0.880391 0.9276 0.863181 0.8644 0.9259 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000079811.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 21_47406612_C->A 21 47406612 47406612 C A snp 436.77 1/1 36 15 0 15 1.0 intronic rs754507 COL6A1 AR,AD NM_001848 exon4 c.4835+13C>A 0.695887 0.7937 0.7215 0.8279 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000079817.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 21_47407362_C->T 21 47407362 47407362 C T snp 2524.77 0/1 99 216 110 106 0.49 intronic rs62215498 COL6A1 AR,AD NM_001848 exon7 c.5648-50C>T 0.339457 0.2827 0.335076 0.3122 0.2733 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000079825.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 21_47409113_C->T 21 47409113 47409113 C T snp 1187.77 1/1 87 38 0 38 1.0 intronic rs8129814 COL6A1 AR,AD NM_001848 exon9 c.7287+62C>T 0.520767 0.6667 0.510526 Uncertain 21_47409503_A->G 21 47409503 47409503 A G snp 1232.77 1/1 90 38 0 38 1.0 intronic rs2277814 COL6A1 AR,AD NM_001848 exon10 c.7757-18A>G 0.876797 0.9306 0.862944 0.8618 0.9274 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000079830.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 21_47410379_A->G 21 47410379 47410379 A G snp 176.9 1/1 15 5 0 5 1.0 intronic rs11702175 COL6A1 AR,AD NM_001848 exon13 c.8572+43A>G 0.851438 0.9325 0.3351 0.5116 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000079732.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 21_47410626_T->G 21 47410626 47410626 T G snp 1575.77 1/1 99 55 0 55 1.0 intronic rs1980981 COL6A1 AR,AD NM_001848 exon14 c.8922-60T>G 0.996406 1 0.990583 Uncertain 21_47412751_A->C 21 47412751 47412751 A C snp 1396.77 1/1 99 51 0 51 1.0 intronic rs2850173 COL6A1 AR,AD NM_001848 exon19 c.10960+27A>C 0.871406 0.8581 0.879036 0.8589 0.8690 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000079748.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 21_47412840_C->T 21 47412840 47412840 C T snp 329.78 1/1 27 10 0 10 1.0 intronic rs2075893 COL6A1 AR,AD NM_001848 exon19 c.10960+116C>T 0.375799 0.6458 Uncertain 21_47413929_G->T 21 47413929 47413929 G T snp 427.77 1/1 33 11 0 11 1.0 intronic rs2850174 COL6A1 AR,AD NM_001848 exon20 c.12316-151G>T Uncertain 21_47417206_A->G 21 47417206 47417206 A G snp 604.77 0/1 99 53 28 25 0.47 intronic rs11701583 COL6A1 AR,AD NM_001848 exon21 c.15570-128A>G 0.578275 0.7143 Uncertain 21_47417303_T->C 21 47417303 47417303 T C snp 3251.77 1/1 99 128 0 128 1.0 intronic rs2839077 COL6A1 AR,AD NM_001848 exon21 c.15570-31T>C 0.511581 0.7083 0.472782 0.5375 0.6712 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000079750.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 21_47417415_C->A 21 47417415 47417415 C A snp 2393.77 1/1 99 86 0 86 1.0 intronic rs2276254 COL6A1 AR,AD NM_001848 exon21 c.15633+18C>A 0.610024 0.7639 0.542372 0.5994 0.7437 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000079752.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 21_47417432_-->G 21 47417432 47417432 - G indel 2167.73 1/1 99 74 0 74 1.0 intronic rs3216137 COL6A1 AR,AD NM_001848 exon21 c.15633+35insG 0.722045 0.7411 0.723353 0.7498 0.7301 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000079753.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 21_47417975_A->G 21 47417975 47417975 A G snp 1379.77 1/1 99 50 0 50 1.0 intronic rs3737437 COL6A1 AR,AD NM_001848 exon23 c.16270-59A>G 0.883387 0.8562 0.882069 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000079759.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 21_47418564_T->C 21 47418564 47418564 T C snp 717.77 1/1 54 21 0 21 1.0 intronic rs4818811 COL6A1 AR,AD NM_001848 exon24 c.16583+217T>C 0.873602 0.8562 Uncertain 21_47418728_-->T 21 47418728 47418728 - T indel 1854.73 1/1 99 48 0 48 1.0 intronic rs141212516 COL6A1 AR,AD NM_001848 exon25 c.17046-82insT 0.861422 0.8562 Uncertain 21_47419697_C->T 21 47419697 47419697 C T snp 2918.77 1/1 99 132 0 132 1.0 intronic rs8131101 COL6A1 AR,AD NM_001848 exon27 c.17842+91C>T 0.865415 0.8562 Uncertain 21_47419706_-->G 21 47419706 47419706 - G indel 3498.73 1/1 99 123 0 123 1.0 intronic rs11464071 COL6A1 AR,AD NM_001848 exon27 c.17842+100insG 0.590655 0.7183 Uncertain 21_47419747_A->G 21 47419747 47419747 A G snp 2164.77 1/1 99 76 1 75 0.99 intronic rs8131632 COL6A1 AR,AD NM_001848 exon27 c.17842+141A>G 0.865615 0.8562 Uncertain 21_47419770_G->A 21 47419770 47419770 G A snp 1349.77 1/1 99 42 0 42 1.0 intronic rs73908116 COL6A1 AR,AD NM_001848 exon27 c.17842+164G>A 0.865016 0.8562 Uncertain 21_47419780_G->A 21 47419780 47419780 G A snp 1094.77 1/1 81 33 0 33 1.0 intronic rs8130255 COL6A1 AR,AD NM_001848 exon27 c.17842+174G>A Uncertain 21_47419794_T->C 21 47419794 47419794 T C snp 846.77 1/1 63 24 0 24 1.0 intronic rs8126900 COL6A1 AR,AD NM_001848 exon27 c.17842+188T>C 0.822284 0.8194 Uncertain 21_47419804_C->T 21 47419804 47419804 C T snp 692.77 1/1 51 19 0 19 1.0 intronic rs8131227 COL6A1 AR,AD NM_001848 exon27 c.17842+198C>T Uncertain 21_47419817_A->G 21 47419817 47419817 A G snp 337.77 0/1 48 13 2 11 0.85 intronic rs79767796 COL6A1 AR,AD NM_001848 exon27 c.17842+211A>G Uncertain 21_47419830_G->A 21 47419830 47419830 G A snp 110.77 0/1 66 7 2 5 0.71 intronic COL6A1 AR,AD NM_001848 exon27 c.17842+224G>A Uncertain 21_47420566_GGAGGGCGGCCGGGGAG->- 21 47420566 47420582 GGAGGGCGGCCGGGGAG - indel 5248.73 1/1 99 50 0 50 1.0 intronic rs142824931 COL6A1 AR,AD NM_001848 exon29 c.18908-106_18908-90delGGAGGGCGGCCGGGGAG 0.839058 0.8571 Uncertain 21_47420726_C->G 21 47420726 47420726 C G snp 4172.77 1/1 99 168 0 168 1.0 intronic rs7276098 COL6A1 AR,AD NM_001848 exon29 c.18917+45C>G 0.830272 0.8562 0.866677 0.8511 0.8647 CLINSIG=non-pathogenic,unknown;CLNDBN=not_specified,not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter,criteria_provided\x2c_single_submitter;CLNACC=RCV000079769.3,RCV000079770.3;CLNDSDB=MedGen,MedGen;CLNDSDBID=CN169374,CN221809 Uncertain 21_47420761_G->A 21 47420761 47420761 G A snp 3035.77 1/1 99 110 0 110 1.0 intronic rs7283989 COL6A1 AR,AD NM_001848 exon29 c.18917+80G>A 0.559505 0.7202 0.501971 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000079771.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 21_47420769_A->G 21 47420769 47420769 A G snp 2723.77 1/1 99 92 0 92 1.0 intronic rs7276782 COL6A1 AR,AD NM_001848 exon29 c.18917+88A>G 0.867412 0.8562 0.860491 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000079772.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 21_47420866_C->T 21 47420866 47420866 C T snp 182.9 1/1 15 6 0 6 1.0 intronic rs7276374 COL6A1 AR,AD NM_001848 exon29 c.18917+185C>T 0.865815 0.8562 Uncertain 21_47421315_C->T 21 47421315 47421315 C T snp 6343.77 1/1 99 216 0 216 1.0 intronic rs11701124 COL6A1 AR,AD NM_001848 exon30 c.19536+15C>T 0.558307 0.7202 0.468707 0.5232 0.7100 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000079778.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 21_47421793_C->T 21 47421793 47421793 C T snp 1692.77 1/1 99 63 1 62 0.98 intronic rs8132377 COL6A1 AR,AD NM_001848 exon31 c.20110-81C>T 0.385982 0.6488 Uncertain 21_47421797_G->A 21 47421797 47421797 G A snp 1860.77 1/1 99 70 0 70 1.0 intronic rs8131313 COL6A1 AR,AD NM_001848 exon31 c.20110-77G>A 0.391573 0.6488 Uncertain 21_47421864_C->T 21 47421864 47421864 C T snp 3046.77 1/1 99 113 0 113 1.0 intronic rs8132521 COL6A1 AR,AD NM_001848 exon31 c.20110-10C>T 0.3752 0.6498 0.246000 0.3766 0.6456 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000079779.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 21_47422412_C->T 21 47422412 47422412 C T snp 7446.77 1/1 99 250 1 249 1.0 intronic rs35796750 COL6A1 AR,AD NM_001848 exon33 c.20676-28C>T 0.551318 0.7202 0.482547 0.5620 0.7112 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000079787.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 21_47422639_A->G 21 47422639 47422639 A G snp 2749.77 1/1 99 85 0 85 1.0 intronic rs2236485 COL6A1 AR,AD NM_001848 exon33 c.20860+15A>G 0.874201 0.8562 0.880634 0.7996 0.7137 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000079791.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 21_47422644_G->A 21 47422644 47422644 G A snp 2426.77 1/1 99 78 0 78 1.0 intronic rs2236486 COL6A1 AR,AD NM_001848 exon33 c.20860+20G>A 0.389577 0.6488 0.280111 0.2051 0.2965 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000079792.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 21_47422679_G->A 21 47422679 47422679 G A snp 1437.77 1/1 99 50 1 49 0.98 intronic rs2236487 COL6A1 AR,AD NM_001848 exon33 c.20860+55G>A 0.370208 0.6399 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000079793.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 21_47423133_C->G 21 47423133 47423133 C G snp 4544.77 1/1 99 165 0 165 1.0 intronic rs2236489 COL6A1 AR,AD NM_001848 exon34 c.21299+70C>G 0.820288 0.8562 0.820193 Uncertain 21_47423233_C->T 21 47423233 47423233 C T snp 1431.77 1/1 99 43 0 43 1.0 intronic rs59769541 COL6A1 AR,AD NM_001848 exon35 c.21540-71C>T 0.391374 0.6498 Uncertain 21_47423854_G->A 21 47423854 47423854 G A snp 2206.77 0/1 99 158 71 87 0.55 exonic rs376999117 COL6A1 AR,AD nonsynonymous SNV NM_001848 exon35 c.G3014A p.R1005H 0.000077 5.125e-05 0 0.14 T 1.000 D -0.015 T 1.0 D 0.993 D Pathogenic 21_47424346_A->G 21 47424346 47424346 A G snp 307.78 1/1 24 8 0 8 1.0 UTR3 rs9254 COL6A1 AR,AD 0.881989 0.8938 Uncertain 21_47532536_C->T 21 47532536 47532536 C T snp 1740.77 0/1 99 136 71 65 0.48 intronic rs2070957 COL6A2 AR,AD NM_058174 exon3 c.1101+45C>T 0.158147 0.3155 0.087560 0.0819 0.2990 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000079897.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 21_47532544_C->T 21 47532544 47532544 C T snp 2009.77 0/1 99 138 66 72 0.52 intronic rs1010688 COL6A2 AR,AD NM_058174 exon3 c.1101+53C>T 0.373802 0.4018 Uncertain 21_47536180_C->T 21 47536180 47536180 C T snp 1031.77 0/1 99 115 66 49 0.43 intronic rs2839109 COL6A2 AR,AD NM_058174 exon8 c.4900-110C>T 0.127995 0.3115 Uncertain 21_47536382_G->A 21 47536382 47536382 G A snp 123.77 0/1 99 20 14 6 0.3 intronic rs572555005 COL6A2 AR,AD NM_058174 exon8 c.4927+65G>A 0.000199681 Uncertain 21_47536546_C->T 21 47536546 47536546 C T snp 932.77 0/1 99 69 34 35 0.51 intronic rs762438 COL6A2 AR,AD NM_058174 exon9 c.5174-18C>T 0.397564 0.4117 0.424639 0.4922 0.4284 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000079902.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 21_47537666_-->G 21 47537666 47537666 - G indel 317.74 1/1 27 9 0 9 1.0 intronic rs397696532 COL6A2 AR,AD NM_058174 exon12 c.6397-121insG 0.806709 0.878 Uncertain 21_47537882_G->A 21 47537882 47537882 G A snp 1508.77 0/1 99 113 49 64 0.57 intronic rs7279347 COL6A2 AR,AD NM_058174 exon12 c.6460+32G>A 0.451478 0.4008 0.463405 0.5309 0.4307 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000079839.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 21_47538050_G->A 21 47538050 47538050 G A snp 719.77 1/1 54 24 0 24 1.0 intronic rs7279535 COL6A2 AR,AD NM_058174 exon12 c.6460+200G>A 0.721046 0.8185 Uncertain 21_47538071_G->A 21 47538071 47538071 G A snp 303.78 1/1 24 8 0 8 1.0 intronic rs12483267 COL6A2 AR,AD NM_058174 exon12 c.6460+221G>A 0.61861 0.8075 Uncertain 21_47538691_G->T 21 47538691 47538691 G T snp 972.77 0/1 99 64 29 35 0.55 intronic rs9917540 COL6A2 AR,AD NM_058174 exon13 c.7200+101G>T 0.314896 0.3849 Uncertain 21_47538960_G->A 21 47538960 47538960 G A snp 2995.77 1/1 99 115 0 115 1.0 exonic rs2839110 COL6A2 AR,AD nonsynonymous SNV NM_001849 exon14 c.G1196A p.S399N 0.705272 0.874 0.729231 0.7734 0.8737 0.56 T 0.0 P -0.967 T 0.0 T 0.001 T CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_multiple_submitters\x2c_no_conflicts;CLNACC=RCV000079842.4;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 21_47539790_A->G 21 47539790 47539790 A G snp 2684.77 1/1 99 102 0 102 1.0 intronic rs3737362 COL6A2 AR,AD NM_058174 exon15 c.8374+26A>G 0.809704 0.879 0.822668 0.7668 0.8902 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000079844.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 21_47540421_T->C 21 47540421 47540421 T C snp 636.77 0/1 99 44 15 29 0.66 intronic rs73159701 COL6A2 AR,AD NM_058174 exon16 c.9038-7T>C 0.20028 0.3423 0.160158 0.2249 0.3221 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_multiple_submitters\x2c_no_conflicts;CLNACC=RCV000079845.4;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 21_47542654_-->C 21 47542654 47542654 - C indel 2462.73 1/1 99 59 0 59 1.0 intronic rs397960126 COL6A2 AR,AD NM_058174 exon21 c.11398-134insC Uncertain 21_47542861_A->G 21 47542861 47542861 A G snp 2279.77 1/1 99 80 0 80 1.0 intronic rs915786 COL6A2 AR,AD NM_058174 exon21 c.11461+10A>G 0.847444 0.876 0.860868 0.8122 0.8796 Uncertain 21_47544452_C->- 21 47544452 47544452 C - indel 276.73 1/1 33 11 0 11 1.0 intronic rs36033678 COL6A2 AR,AD NM_058174 exon22 c.13174-112delC 0.743011 0.8621 Uncertain 21_47544454_C->T 21 47544454 47544454 C T snp 182.77 0/1 99 16 9 7 0.44 intronic rs369935000 COL6A2 AR,AD NM_058174 exon22 c.13174-110C>T 0.743011 0.8621 Uncertain 21_47544541_C->G 21 47544541 47544541 C G snp 933.77 0/1 99 74 37 37 0.5 intronic rs3746995 COL6A2 AR,AD NM_058174 exon22 c.13174-23C>G 0.414013 0.4797 0.4401 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000079855.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 21_47544727_G->A 21 47544727 47544727 G A snp 1285.77 0/1 99 95 43 52 0.55 intronic rs9981879 COL6A2 AR,AD NM_058174 exon23 c.13408-71G>A 0.138578 0.3611 0.050372 Uncertain 21_47544838_G->A 21 47544838 47544838 G A snp 1443.77 0/1 99 126 64 62 0.49 splicing rs9981981 COL6A2 AR,AD NM_058174 exon23 c.13444+4G>A 0.13778 0.3611 0.055299 0.0758 0.3528 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_multiple_submitters\x2c_no_conflicts;CLNACC=RCV000079860.4;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 21_47545021_G->A 21 47545021 47545021 G A snp 433.77 0/1 99 44 28 16 0.36 intronic rs73382469 COL6A2 AR,AD NM_058174 exon24 c.13789-158G>A 0.130192 0.3601 Uncertain 21_47545155_A->G 21 47545155 47545155 A G snp 3653.77 1/1 99 126 1 125 0.99 intronic rs2839113 COL6A2 AR,AD NM_058174 exon24 c.13789-24A>G 0.795128 0.876 0.803322 0.7985 0.8782 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000079861.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 21_47545346_C->T 21 47545346 47545346 C T snp 3069.77 0/1 99 250 125 125 0.5 intronic rs2276101 COL6A2 AR,AD NM_058174 exon25 c.13988-32C>T 0.138978 0.3611 0.055060 0.0762 0.3536 0.1 T 0.0 P -1.019 T CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000079863.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 21_47545369_-->C 21 47545369 47545369 - C indel 2776.73 0/1 99 249 129 120 0.48 intronic rs149954350 COL6A2 AR,AD NM_058174 exon25 c.13988-9insC 0.156949 0.3591 0.117812 0.1307 0.3519 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000079864.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 21_47545768_G->A 21 47545768 47545768 G A snp 3442.77 0/1 99 250 119 131 0.52 exonic rs1042917 COL6A2 AR,AD nonsynonymous SNV NM_001849 exon26 c.G2039A p.R680H 0.39397 0.4306 0.412963 0.4784 0.4363 0.09 T 1.000 P -0.854 T 1.0 D 0.982 D CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_multiple_submitters\x2c_no_conflicts;CLNACC=RCV000079868.4;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 21_47545823_G->A 21 47545823 47545823 G A snp 3718.77 0/1 99 250 112 138 0.55 exonic rs13052956 COL6A2 AR,AD synonymous SNV NM_001849 exon26 c.G2094A p.A698A 0.394169 0.4306 0.412733 0.4755 0.4322 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_multiple_submitters\x2c_no_conflicts;CLNACC=RCV000079869.4;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 21_47545826_C->T 21 47545826 47545826 C T snp 3480.77 0/1 99 250 115 135 0.54 exonic rs13046639 COL6A2 AR,AD synonymous SNV NM_001849 exon26 c.C2097T p.G699G 0.39397 0.4306 0.412579 0.4755 0.4324 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_multiple_submitters\x2c_no_conflicts;CLNACC=RCV000079870.4;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 21_47545913_G->A 21 47545913 47545913 G A snp 3372.77 0/1 99 250 124 126 0.5 exonic rs2839114 COL6A2 AR,AD synonymous SNV NM_001849 exon26 c.G2184A p.V728V 0.322085 0.4226 0.291558 0.3748 0.4323 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_multiple_submitters\x2c_no_conflicts;CLNACC=RCV000079875.4;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 21_47546244_T->C 21 47546244 47546244 T C snp 800.77 0/1 99 45 21 24 0.53 intronic rs13050660 COL6A2 AR,AD NM_058174 exon26 c.14761+93T>C 0.551917 0.4613 Uncertain 21_47551833_C->T 21 47551833 47551833 C T snp 248.77 0/1 99 34 23 11 0.32 intronic rs7279622 COL6A2 AR,AD NM_001849 exon28 c.20477-34C>T 0.483826 0.4831 0.531890 0.5359 0.5306 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000079879.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 21_47552624_C->T 21 47552624 47552624 C T snp 114.77 0/1 99 10 6 4 0.4 UTR3 rs11554666 COL6A2 AR,AD 0.14377 0.3562 Uncertain 21_47556793_C->T 21 47556793 47556793 C T snp 562.77 0/1 99 44 18 26 0.59 intronic rs12774 FTCD AR 0.551917 0.5129 0.6707 0.6013 Uncertain 21_47556809_C->T 21 47556809 47556809 C T snp 468.77 0/1 99 46 26 20 0.43 intronic rs1047209 FTCD AR 0.158546 0.3244 0.1812 0.3963 0.0 P -1.037 T Uncertain 21_47557074_A->G 21 47557074 47557074 A G snp 5300.77 1/1 99 174 0 174 1.0 intronic rs9284510 FTCD AR NM_206965 exon2 c.252-78A>G 0.983027 1 Uncertain 21_47557222_G->A 21 47557222 47557222 G A snp 2472.77 0/1 99 247 131 116 0.47 exonic rs10432965 FTCD AR synonymous SNV NM_006657 exon13 c.C1470T p.G490G 0.167532 0.3512 0.091650 0.0869 0.3573 0.01 T 0.000 P -1.016 T 0.0 T 0.0 T Likely benign 21_47558457_G->A 21 47558457 47558457 G A snp 481.77 0/1 99 44 23 21 0.48 exonic rs199807194 FTCD AR nonsynonymous SNV NM_006657 exon12 c.C1408T p.R470W 0.000199681 0.001 0.000079 0.0001 0.0002 0.03 T 1 N -0.995 T 0.168 T 0.011 T Pathogenic 21_47558473_G->C 21 47558473 47558473 G C snp 521.77 0/1 99 48 23 25 0.52 exonic rs1047179 FTCD AR synonymous SNV NM_006657 exon12 c.C1392G p.A464A 0.48103 0.4296 0.471325 0.5139 0.4692 0.0 P -0.948 T 0.0 T 0.0 T CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000081448.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Likely benign 21_47558528_C->T 21 47558528 47558528 C T snp 462.77 0/1 99 63 39 24 0.38 exonic rs79021510 FTCD AR nonsynonymous SNV NM_006657 exon12 c.G1337A p.R446Q 0.00698882 0.0317 0.0030 0.0334 0.74 T 1 D -0.981 T 0.009 T 0.005 T Pathogenic 21_47558994_A->G 21 47558994 47558994 A G snp 535.77 0/1 99 31 15 16 0.52 intronic rs1980983 FTCD AR NM_206965 exon4 c.1937+157A>G 0.414537 0.5456 Uncertain 21_47571383_-->A 21 47571383 47571383 - A indel 1233.73 1/1 84 28 0 28 1.0 intronic rs34248722 FTCD AR NM_206965 exon10 c.14571-88insA 1 1 Uncertain 21_47571429_G->A 21 47571429 47571429 G A snp 562.77 0/1 99 64 42 22 0.34 intronic rs58309404 FTCD AR NM_206965 exon10 c.14571-42G>A 0.128994 0.2579 0.058983 0.0639 0.2609 Uncertain 21_47573887_A->C 21 47573887 47573887 A C snp 123.03 1/1 12 4 0 4 1.0 intronic rs8126678 FTCD AR NM_206965 exon13 c.17162-175A>C 0.883387 0.999 Uncertain 21_47575372_C->T 21 47575372 47575372 C T snp 1759.77 0/1 99 157 76 81 0.52 intronic rs2277820 FTCD AR NM_206965 exon14 c.18483-11C>T 0.403355 0.7728 0.218495 0.3660 0.8208 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000081451.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 21_47581219_C->T 21 47581219 47581219 C T snp 489.77 0/1 99 44 24 20 0.45 UTR3 rs10188 SPATC1L AU 0.0736821 0.0179 Uncertain 21_47581423_C->T 21 47581423 47581423 C T snp 1256.77 0/1 99 103 53 50 0.49 exonic rs14378 SPATC1L AU nonsynonymous SNV NM_032261 exon4 c.G431A p.S144N 0.101837 0.0179 0.108437 0.1037 0.0201 0.55 T 0.115 P -1.073 T 0.0 T 0.001 T Pathogenic 21_47581655_C->T 21 47581655 47581655 C T snp 68.77 0/1 97 10 6 4 0.4 intronic rs3827274 SPATC1L AU NM_001142854 exon1 c.327+36C>T 0.293131 0.3542 0.208499 0.4160 0.4207 Uncertain 21_47581835_C->T 21 47581835 47581835 C T snp 1071.77 0/1 99 84 40 44 0.52 exonic rs113710653 SPATC1L AU nonsynonymous SNV NM_032261 exon3 c.G229A p.E77K 0.0405351 0.0139 0.062914 0.0741 0.0160 0.67 T 1.000 N -1.003 T 0.0 T 0.0 T Pathogenic 21_47581949_C->T 21 47581949 47581949 C T snp 1391.77 0/1 99 140 75 65 0.46 exonic rs113146399 SPATC1L AU nonsynonymous SNV NM_032261 exon3 c.G115A p.A39T 0.0403355 0.0139 0.061852 0.1041 0.0259 0.18 T 1.000 N -1.077 T 0.164 T 0.018 T Pathogenic 21_47582102_C->T 21 47582102 47582102 C T snp 298.77 0/1 99 22 11 11 0.5 intronic rs3747003 SPATC1L AU NM_001142854 exon2 c.689+121C>T 0.294129 0.3562 Uncertain 21_47608580_G->A 21 47608580 47608580 G A snp 2080.77 0/1 99 157 75 82 0.52 UTR3 rs2968 LSS AR 0.578075 0.6815 0.5919 0.6798 0.000 P Uncertain 21_47609510_T->C 21 47609510 47609510 T C snp 191.77 0/1 99 13 6 7 0.54 intronic rs9717 LSS AR 0.732029 0.6865 Uncertain 21_47609677_A->G 21 47609677 47609677 A G snp 1020.77 0/1 99 68 25 43 0.63 intronic rs914247 LSS AR 0.611022 0.6835 0.6375 0.6618 Uncertain 21_47611310_A->G 21 47611310 47611310 A G snp 119.77 0/1 99 7 3 4 0.57 intronic rs2187118 LSS AR NM_001145437 exon1 c.132+161A>G 0.583067 0.6825 Uncertain 21_47612466_A->G 21 47612466 47612466 A G snp 1215.77 0/1 99 112 54 58 0.52 intronic rs2187120 LSS AR NM_001145437 exon2 c.856+593A>G 0.580871 0.6825 0.5938 0.6642 0.37 T 0.000 P -0.997 T Uncertain 21_47612471_T->C 21 47612471 47612471 T C snp 1120.77 0/1 99 112 57 55 0.49 intronic rs2187121 LSS AR NM_001145437 exon2 c.856+598T>C 0.580871 0.6825 0.5939 0.6642 0.05 T 0.0 P -0.979 T Uncertain 21_47612512_-->TG 21 47612512 47612512 - TG indel 2569.73 0/1 99 128 60 68 0.53 intronic rs146297977 LSS AR NM_001145437 exon2 c.856+639insTG 0.721046 0.6806 0.2378 0.4231 Uncertain 21_47614469_A->C 21 47614469 47614469 A C snp 906.77 0/1 99 83 41 42 0.51 exonic rs2254524 LSS AR nonsynonymous SNV NM_001001438 exon20 c.T1924G p.L642V 0.732228 0.6875 0.741735 0.6750 0.7106 1 T 0.000 P -0.995 T 0.0 T 0.0 T Pathogenic 21_47616071_G->C 21 47616071 47616071 G C snp 704.77 0/1 99 58 30 28 0.48 intronic rs7282841 LSS AR NM_001145437 exon5 c.5098-44G>C 0.598842 0.6835 0.620714 0.6268 0.7083 Uncertain 21_47616080_G->A 21 47616080 47616080 G A snp 792.77 0/1 99 67 36 31 0.46 intronic rs2839140 LSS AR NM_001145437 exon5 c.5098-35G>A 0.58127 0.6825 0.577195 0.5847 0.7073 Uncertain 21_47627245_C->A 21 47627245 47627245 C A snp 278.77 0/1 99 26 14 12 0.46 intronic rs2839144 LSS AR NM_001145437 exon8 c.16324-96C>A 0.410144 0.3175 Uncertain 21_47628375_G->T 21 47628375 47628375 G T snp 435.77 0/1 99 40 25 15 0.38 intronic rs73144751 LSS AR NM_001145437 exon9 c.17198+160G>T 0.105032 0.0327 Uncertain 21_47630550_C->T 21 47630550 47630550 C T snp 834.77 0/1 99 83 46 37 0.45 intronic rs2839146 LSS AR NM_001145437 exon11 c.19584-51C>T 0.28095 0.3155 0.279903 Uncertain 21_47633789_C->G 21 47633789 47633789 C G snp 2157.77 0/1 99 201 105 96 0.48 intronic rs9974665 LSS AR NM_001145437 exon13 c.22732+40C>G 0.24361 0.1161 0.330872 0.3545 0.1491 Uncertain 21_47635302_-->C 21 47635302 47635302 - C indel 549.73 1/1 45 18 0 18 1.0 intronic rs397698308 LSS AR NM_001145437 exon14 c.24195+90insC 1 1 Uncertain 21_47635627_C->G 21 47635627 47635627 C G snp 1374.77 0/1 99 112 53 59 0.53 exonic rs9980968 LSS AR synonymous SNV NM_001001438 exon8 c.G864C p.P288P 0.361022 0.127 0.409965 0.3763 0.1353 Uncertain 21_47635713_G->A 21 47635713 47635713 G A snp 3672.77 1/1 99 145 0 145 1.0 splicing rs11701729 LSS AR NM_001145437 exon15 c.24690+6G>A 0.530551 0.4494 0.557059 0.6627 0.4467 Pathogenic 21_47635856_C->G 21 47635856 47635856 C G snp 713.77 1/1 54 20 0 20 1.0 intronic rs2839153 LSS AR NM_001145437 exon15 c.24690+149C>G 0.781749 0.4504 Uncertain 21_47639492_C->G 21 47639492 47639492 C G snp 2822.77 0/1 99 226 115 111 0.49 splicing rs2277826 LSS AR NM_001145437 exon17 c.28469+6C>G 0.51897 0.6716 0.506767 0.5756 0.7031 Pathogenic 21_47641700_G->T 21 47641700 47641700 G T snp 31.77 0/1 60 9 6 3 0.33 intronic rs2839157 LSS AR NM_001145437 exon18 c.30750-67G>T 0.727835 0.6766 Uncertain 21_47641996_C->G 21 47641996 47641996 C G snp 448.77 0/1 99 36 18 18 0.5 intronic rs2280959 LSS AR NM_001145437 exon18 c.30872+107C>G 0.501797 0.3284 Uncertain 21_47642016_C->T 21 47642016 47642016 C T snp 338.77 0/1 99 24 12 12 0.5 intronic rs2280958 LSS AR NM_001145437 exon18 c.30872+127C>T 0.502196 0.3284 Uncertain 21_47642397_C->T 21 47642397 47642397 C T snp 551.77 0/1 99 33 15 18 0.55 intronic rs2280955 LSS AR NM_001145437 exon19 c.31526-146C>T 0.269968 0.3234 Uncertain 21_47647382_T->A 21 47647382 47647382 T A snp 101.77 0/1 99 13 9 4 0.31 intronic rs999691 LSS AR NM_001145437 exon20 c.36448-83T>A 0.270966 0.3234 Uncertain 21_47647619_AA->- 21 47647619 47647620 AA - indel 1071.73 0/1 99 72 26 46 0.64 intronic rs10550493 LSS AR NM_001145437 exon20 c.36587+15_36587+16delAA 0.416334 0.3224 0.4208 0.2955 Uncertain 21_47650215_T->- 21 47650215 47650215 T - indel 302.75 1/1 24 8 0 8 1.0 ncRNA_intronic rs3216138 MCM3AP-AS1 AU 0.782149 0.4524 Uncertain 21_47656712_T->C 21 47656712 47656712 T C snp 1039.77 0/1 99 77 32 45 0.58 ncRNA_intronic rs2839166 MCM3AP-AS1 AU 0.264776 0.1111 0.338382 0.3433 0.1155 Uncertain 21_47662900_A->- 21 47662900 47662900 A - indel 193.73 0/1 95 37 7 30 0.81 ncRNA_exonic rs56371413 MCM3AP-AS1 AU Uncertain 21_47662920_C->A 21 47662920 47662920 C A snp 133.77 0/1 99 18 10 8 0.44 ncRNA_intronic rs60691594 MCM3AP-AS1 AU 0.279952 0.0377 Uncertain 21_47665117_AAGA->- 21 47665117 47665120 AAGA - indel 1450.73 0/1 99 85 46 39 0.46 splicing rs150712767 MCM3AP AU NM_003906 exon6 c.9930+6_9930+9delAAGA 0.323283 0.3254 0.311618 0.3578 0.2956 Pathogenic 21_47669648_T->A 21 47669648 47669648 T A snp 1135.77 0/1 99 103 55 48 0.47 ncRNA_exonic rs2330353 MCM3AP-AS1 AU 0.425919 0.3185 Uncertain 21_47671305_A->G 21 47671305 47671305 A G snp 53.77 0/1 82 9 6 3 0.33 ncRNA_exonic rs2839170 MCM3AP-AS1 AU 0.40615 0.3264 Uncertain 21_47674275_G->A 21 47674275 47674275 G A snp 1803.77 0/1 99 148 71 77 0.52 intronic rs2250213 MCM3AP AU NM_003906 exon10 c.19124-30G>A 0.363818 0.3274 0.396202 0.4094 0.2890 Uncertain 21_47676711_G->A 21 47676711 47676711 G A snp 483.77 0/1 99 47 27 20 0.43 exonic rs2839173 MCM3AP AU synonymous SNV NM_003906 exon17 c.C3924T p.S1308S 0.404752 0.3264 0.415902 0.4416 0.3906 Uncertain 21_47676934_T->C 21 47676934 47676934 T C snp 922.77 0/1 99 82 39 43 0.52 intronic rs2839174 MCM3AP AU NM_003906 exon12 c.21719+34T>C 0.403754 0.3264 0.416384 0.4370 0.3347 Uncertain 21_47678774_A->G 21 47678774 47678774 A G snp 2409.77 1/1 99 84 0 84 1.0 intronic rs2839178 MCM3AP AU NM_003906 exon13 c.23671-78A>G 0.625599 0.3641 Uncertain 21_47681127_T->C 21 47681127 47681127 T C snp 255.8 1/1 21 8 0 8 1.0 intronic rs2839180 MCM3AP AU NM_003906 exon15 c.26012-66T>C 0.492412 0.3611 Uncertain 21_47685787_T->C 21 47685787 47685787 T C snp 1480.77 0/1 99 143 73 70 0.49 intronic rs9637172 MCM3AP AU NM_003906 exon18 c.30657-51T>C 0.366813 0.2798 0.414545 Uncertain 21_47685939_A->G 21 47685939 47685939 A G snp 2392.77 0/1 99 178 78 100 0.56 exonic rs2839181 MCM3AP AU synonymous SNV NM_003906 exon11 c.T2931C p.H977H 0.421725 0.2788 0.474012 0.4515 0.2726 Uncertain 21_47686152_C->T 21 47686152 47686152 C T snp 560.77 1/1 42 15 0 15 1.0 intronic rs2839182 MCM3AP AU NM_003906 exon18 c.30899+72C>T 0.780551 0.4425 Uncertain 21_47686174_T->C 21 47686174 47686174 T C snp 343.78 1/1 27 10 0 10 1.0 intronic rs4818831 MCM3AP AU NM_003906 exon18 c.30899+94T>C 0.780551 0.4425 Uncertain 21_47687144_G->A 21 47687144 47687144 G A snp 387.77 0/1 99 17 4 13 0.76 intronic rs2839183 MCM3AP AU NM_003906 exon19 c.31875+88G>A 0.358826 0.1627 Uncertain 21_47692798_C->T 21 47692798 47692798 C T snp 186.77 0/1 99 10 4 6 0.6 intronic rs2839188 MCM3AP AU NM_003906 exon21 c.37562+55C>T 0.278954 0.2599 Uncertain 21_47695395_C->G 21 47695395 47695395 C G snp 259.77 0/1 99 17 7 10 0.59 intronic rs2839191 MCM3AP AU NM_003906 exon23 c.40058+156C>G 0.359625 0.2827 Uncertain 21_47695417_A->C 21 47695417 47695417 A C snp 31.77 0/1 60 7 4 3 0.43 intronic rs4819221 MCM3AP AU NM_003906 exon23 c.40058+178A>C 0.359824 0.2827 Uncertain 21_47697650_A->G 21 47697650 47697650 A G snp 362.77 0/1 99 40 24 16 0.4 intronic rs17182664 MCM3AP AU NM_003906 exon24 c.42450+19A>G 0.267772 0.1558 0.327618 0.3349 0.1407 Uncertain 21_47703649_G->A 21 47703649 47703649 G A snp 1101.77 0/1 99 63 21 42 0.67 exonic rs11702450 MCM3AP AU synonymous SNV NM_003906 exon2 c.C1323T p.N441N 0.270567 0.1558 0.332923 0.3377 0.1379 Uncertain 21_47704896_G->A 21 47704896 47704896 G A snp 1904.77 0/1 99 153 77 76 0.5 exonic rs9975588 MCM3AP AU nonsynonymous SNV NM_003906 exon1 c.C305T p.S102L 0.248602 0.1488 0.331462 0.3241 0.1322 0.02 T 0.439 P -0.909 T 0.844 T 0.313 P ID=CM065300;DIS=Leukemia, risk, association with;TAG=DP;PUB=16574953 DP Pathogenic 21_47705237_T->C 21 47705237 47705237 T C snp 1161.77 0/1 99 90 46 44 0.49 UTR5 rs17176131 MCM3AP AU 0.358427 0.2837 0.413769 0.4326 0.2742 Uncertain 21_47707050_T->A 21 47707050 47707050 T A snp 74.77 0/1 99 25 21 4 0.16 intronic rs61182475 YBEY AU NM_058181 exon2 c.210+13T>A 0.358626 0.3234 0.110624 0.4006 0.2556 Uncertain 21_47707054_C->T 21 47707054 47707054 C T snp 74.77 0/1 99 25 21 4 0.16 intronic rs13049893 YBEY AU NM_058181 exon2 c.210+17C>T 0.270367 0.3244 0.3386 0.2597 Uncertain 21_47711140_C->- 21 47711140 47711140 C - indel 235.8 1/1 18 6 0 6 1.0 intronic rs57739931 YBEY AU NM_058181 exon3 c.4420-107delC 1 1 Uncertain 21_47711229_A->G 21 47711229 47711229 A G snp 802.77 0/1 99 68 35 33 0.49 intronic rs2276257 YBEY AU NM_058181 exon3 c.4420-18A>G 0.357428 0.3185 0.404890 0.4241 0.2925 Uncertain 21_47716230_T->C 21 47716230 47716230 T C snp 1726.77 1/1 99 45 0 45 1.0 intergenic rs1888539 YBEY AU 0.53774 0.4653 Uncertain 21_47717350_C->G 21 47717350 47717350 C G snp 269.8 1/1 21 8 0 8 1.0 intergenic rs2839206 YBEY AU 0.530751 0.4444 Uncertain 21_47717616_G->A 21 47717616 47717616 G A snp 2626.77 1/1 99 99 0 99 1.0 intergenic rs8651 YBEY AU 0.749401 0.4504 Uncertain 21_47717686_G->A 21 47717686 47717686 G A snp 1117.77 1/1 81 39 0 39 1.0 intergenic rs2839207 YBEY AU 0.530351 0.4444 Uncertain 21_47721985_-->TGG 21 47721985 47721985 - TGG indel 1374.73 0/1 99 70 27 43 0.61 exonic rs112899928 C21orf58 AU nonframeshift insertion NM_001286463 exon7 c.578_579insCCA p.H193delinsHH 0.275958 0.3046 0.2852 0.3072 ID=COSM301833;OCCURENCE=1(endometrium),2(breast),5(large_intestine),1(central_nervous_system),1(haematopoietic_and_lymphoid_tissue) Uncertain 21_47722267_G->A 21 47722267 47722267 G A snp 99.28 1/1 9 3 0 3 1.0 intronic rs1556336 C21orf58 AU NM_001286463 exon2 c.486-131G>A 0.531949 0.4454 Uncertain 21_47722391_A->G 21 47722391 47722391 A G snp 1225.77 1/1 87 43 0 43 1.0 intronic rs1556337 C21orf58 AU NM_001286463 exon2 c.486-7A>G 0.53155 0.4454 0.604984 0.6689 0.4667 Uncertain 21_47722578_G->C 21 47722578 47722578 G C snp 1499.77 1/1 99 51 0 51 1.0 intronic rs1974171 C21orf58 AU NM_001286463 exon2 c.578+88G>C 0.53155 0.4454 Uncertain 21_47734659_G->A 21 47734659 47734659 G A snp 1020.77 0/1 99 82 39 43 0.52 exonic rs13047478 C21orf58 AU nonsynonymous SNV NM_001286463 exon4 c.C262T p.P88S 0.287939 0.3115 0.265901 0.3743 0.3875 0.02 T 1.000 P -0.947 T 0.996 D 0.907 D Pathogenic 21_47738035_C->T 21 47738035 47738035 C T snp 1742.77 0/1 99 158 82 76 0.48 exonic rs139612839 C21orf58 AU nonsynonymous SNV NM_058180 exon2 c.G200A p.G67D 0.00658946 0.0308 0.000077 0.0027 0.0339 0.04 T 1.000 N -1.070 T 0.914 T 0.322 D Pathogenic 21_47744038_G->- 21 47744038 47744038 G - indel 883.73 1/1 75 25 0 25 1.0 UTR5 rs3842460 PCNT AR 0.767173 0.494 Uncertain 21_47766139_T->C 21 47766139 47766139 T C snp 1236.77 0/1 99 113 60 53 0.47 intronic rs9982233 PCNT AR NM_006031 exon4 c.21980+17T>C 0.67512 0.6409 0.689067 0.6408 0.6693 Uncertain 21_47766232_A->C 21 47766232 47766232 A C snp 176.77 0/1 99 14 8 6 0.43 intronic rs9979907 PCNT AR NM_006031 exon4 c.21980+110A>C 0.675319 0.6409 Uncertain 21_47766650_G->A 21 47766650 47766650 G A snp 734.77 0/1 99 76 44 32 0.42 intronic rs2839217 PCNT AR NM_006031 exon5 c.22514-6G>A 0.29992 0.3849 0.320268 0.4134 0.4795 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000147195.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 21_47773103_C->A 21 47773103 47773103 C A snp 1364.77 0/1 99 153 92 61 0.4 exonic rs2249057 PCNT AR synonymous SNV NM_006031 exon10 c.C1542A p.S514S 0.289537 0.3839 0.298247 0.3201 0.4264 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000147090.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 21_47777063_G->A 21 47777063 47777063 G A snp 2028.77 1/1 99 77 0 77 1.0 exonic rs2839223 PCNT AR nonsynonymous SNV NM_006031 exon13 c.G2111A p.G704E 0.848642 0.8056 0.893818 0.8559 0.8131 1 T 0.000 P -1.024 T 0.0 T 0.0 T CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000147093.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 21_47777222_A->G 21 47777222 47777222 A G snp 474.77 1/1 36 13 0 13 1.0 intronic rs2839224 PCNT AR NM_006031 exon13 c.32964+116A>G 0.857228 0.8065 Uncertain 21_47783796_T->C 21 47783796 47783796 T C snp 3314.77 1/1 99 126 0 126 1.0 exonic rs8131546 PCNT AR synonymous SNV NM_006031 exon14 c.T2556C p.A852A 0.847045 0.8026 0.894871 0.8548 0.8152 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000147097.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 21_47786449_T->A 21 47786449 47786449 T A snp 3479.77 1/1 99 129 0 129 1.0 intronic rs9637173 PCNT AR NM_006031 exon15 c.42356-49T>A 0.80651 0.7956 0.891188 0.7806 0.8001 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000147098.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 21_47786494_C->T 21 47786494 47786494 C T snp 5284.77 1/1 99 205 0 205 1.0 splicing rs2839226 PCNT AR NM_006031 exon15 c.42356-4C>T 0.657748 0.7976 0.688560 0.7487 0.8100 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000147099.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 21_47786817_C->G 21 47786817 47786817 C G snp 2591.77 1/1 99 89 0 89 1.0 exonic rs2839228 PCNT AR synonymous SNV NM_006031 exon15 c.C2928G p.L976L 0.838858 0.8036 0.881747 0.8527 0.8139 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000147104.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 21_47787002_T->C 21 47787002 47787002 T C snp 2618.77 1/1 99 97 0 97 1.0 exonic rs6518289 PCNT AR nonsynonymous SNV NM_006031 exon15 c.T3113C p.V1038A 0.83766 0.8006 0.883054 0.8530 0.8144 1 T 0.0 P -0.932 T 0.0 T 0.0 T CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000147106.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 21_47811272_C->T 21 47811272 47811272 C T snp 203.77 0/1 99 19 12 7 0.37 exonic rs3737438 PCNT AR synonymous SNV NM_006031 exon21 c.C4197T p.D1399D 0.301518 0.4008 0.287943 0.3658 0.4716 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000147122.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 21_47821726_G->A 21 47821726 47821726 G A snp 309.77 0/1 99 15 5 10 0.67 intronic rs2839241 PCNT AR NM_006031 exon26 c.77493+91G>A 0.33107 0.4266 Uncertain 21_47850405_C->T 21 47850405 47850405 C T snp 1179.77 0/1 99 96 44 52 0.54 intronic rs2839257 PCNT AR NM_006031 exon37 c.106278-15C>T 0.669129 0.6181 0.705567 0.6653 0.6421 Uncertain 21_47850484_G->C 21 47850484 47850484 G C snp 683.77 0/1 99 88 56 32 0.36 exonic rs2070426 PCNT AR nonsynonymous SNV NM_006031 exon37 c.G7977C p.Q2659H 0.488219 0.6141 0.484078 0.5774 0.6855 0.02 T 0.0 P -0.919 T 0.031 T 0.003 T CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_multiple_submitters\x2c_no_conflicts;CLNACC=RCV000147219.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 21_47851753_A->G 21 47851753 47851753 A G snp 1754.77 0/1 99 178 102 76 0.43 exonic rs2073376 PCNT AR nonsynonymous SNV NM_006031 exon38 c.A8375G p.Q2792R 0.669928 0.619 0.691835 0.6397 0.6478 0.75 T 0.0 P -1.097 T 0.0 T 0.0 T CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_multiple_submitters\x2c_no_conflicts;CLNACC=RCV000147222.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 21_47852085_G->A 21 47852085 47852085 G A snp 482.77 0/1 99 30 12 18 0.6 exonic rs35147998 PCNT AR nonsynonymous SNV NM_006031 exon38 c.G8707A p.A2903T 0.0385383 0.0129 0.060511 0.0635 0.0160 0.51 T 1 N -0.881 T 0.089 T 0.019 T CLINSIG=probable-non-pathogenic,non-pathogenic;CLNDBN=not_specified,not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter,criteria_provided\x2c_single_submitter;CLNACC=RCV000147227.1,RCV000147228.1;CLNDSDB=MedGen,MedGen;CLNDSDBID=CN169374,CN169374 Pathogenic 21_47852151_-->G 21 47852151 47852151 - G indel 280.77 1/1 21 8 0 8 1.0 intronic rs5844270 PCNT AR NM_006031 exon38 c.107987+22insG 1 1 0.999837 1.0000 1 Uncertain 21_47856106_C->A 21 47856106 47856106 C A snp 353.77 0/1 99 18 4 14 0.78 intronic rs2236616 PCNT AR NM_006031 exon39 c.111919+45C>A 0.3127 0.4167 0.298214 0.3595 0.4513 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000147237.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 21_47858272_T->C 21 47858272 47858272 T C snp 335.77 0/1 99 20 7 13 0.65 intronic rs2051190 PCNT AR NM_006031 exon41 c.114108+22T>C 0.292732 0.379 0.256728 0.2988 0.3517 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000147242.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 21_47860217_C->T 21 47860217 47860217 C T snp 481.77 0/1 99 40 20 20 0.5 intronic rs2073377 PCNT AR NM_006031 exon42 c.115973+102C>T 0.292133 0.379 Uncertain 21_47860764_T->C 21 47860764 47860764 T C snp 583.77 0/1 99 38 14 24 0.63 splicing rs2839260 PCNT AR NM_006031 exon43 c.116625-3T>C 0.105831 0.0139 0.159004 0.1277 0.0163 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000147245.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 21_47862624_A->G 21 47862624 47862624 A G snp 2208.77 1/1 99 78 0 78 1.0 intronic rs2839262 PCNT AR NM_006031 exon44 c.118344+138A>G 0.814696 0.8006 Uncertain 21_47864561_TTT->- 21 47864561 47864563 TTT - indel 265.52 1/1 7 12 2 10 0.83 intronic rs143709505 PCNT AR NM_006031 exon46 c.120464-45_120464-43delTTT 0.761382 0.6766 0.3896 0.3429 Uncertain 21_47864813_C->T 21 47864813 47864813 C T snp 866.77 0/1 99 59 21 38 0.64 intronic rs2249970 PCNT AR NM_006031 exon46 c.120592+79C>T 0.279353 0.376 Uncertain 21_47864823_G->C 21 47864823 47864823 G C snp 765.77 0/1 99 51 20 31 0.61 intronic rs2073381 PCNT AR NM_006031 exon46 c.120592+89G>C 0.292732 0.376 Uncertain 21_47904569_G->A 21 47904569 47904569 G A snp 195.77 0/1 94 10 4 6 0.6 intronic rs2032111 DIP2A AU NM_206891 exon2 c.25625-100G>A 0.335264 0.378 Uncertain 21_47910659_A->G 21 47910659 47910659 A G snp 462.77 0/1 99 39 23 16 0.41 intronic rs9976530 DIP2A AU NM_206891 exon3 c.31588+27A>G 0.328874 0.4157 0.343786 0.3944 0.5015 Uncertain 21_47917048_T->- 21 47917048 47917048 T - indel 7346.73 1/1 99 229 0 229 1.0 intronic rs11315869 DIP2A AU NM_206891 exon4 c.37976+28delT 0.815695 0.7986 0.850078 0.8051 0.8090 Uncertain 21_47917170_G->A 21 47917170 47917170 G A snp 586.77 1/1 45 15 0 15 1.0 intronic rs2839292 DIP2A AU NM_206891 exon4 c.37976+150G>A 0.815695 0.7986 Uncertain 21_47931245_A->G 21 47931245 47931245 A G snp 476.77 0/1 99 46 26 20 0.43 intronic rs1029262 DIP2A AU NM_206891 exon8 c.52285-84A>G 0.311102 0.376 Uncertain 21_47953725_G->A 21 47953725 47953725 G A snp 198.77 0/1 99 11 4 7 0.64 intronic rs3747010 DIP2A AU NM_206891 exon11 c.74516+165G>A 0.280751 0.379 Uncertain 21_47958657_C->T 21 47958657 47958657 C T snp 1062.77 0/1 99 86 46 40 0.47 intronic rs2839313 DIP2A AU NM_206891 exon16 c.79471+142C>T 0.236422 0.378 Uncertain 21_47959731_C->G 21 47959731 47959731 C G snp 924.77 0/1 99 72 35 37 0.51 intronic rs117443865 DIP2A AU NM_206891 exon17 c.80745-58C>G 0.0391374 0.0129 0.0646 0.0163 Uncertain 21_47961634_T->C 21 47961634 47961634 T C snp 1032.77 0/1 99 93 49 44 0.47 intronic rs2070434 DIP2A AU NM_206891 exon18 c.82624-34T>C 0.297923 0.3829 0.251568 0.2975 0.3519 Uncertain 21_47966016_C->G 21 47966016 47966016 C G snp 588.77 0/1 99 31 12 19 0.61 intronic rs4818845 DIP2A AU NM_015151 exon20 c.86830+142C>G 0.0822684 0.0129 Uncertain 21_47969793_C->T 21 47969793 47969793 C T snp 1931.77 0/1 99 164 83 81 0.49 exonic rs17302700 DIP2A AU synonymous SNV NM_015151 exon22 c.C2632T p.L878L 0.0397364 0.0149 0.061068 0.0629 0.0174 Uncertain 21_47969962_T->C 21 47969962 47969962 T C snp 184.77 0/1 99 16 8 8 0.5 intronic rs79100421 DIP2A AU NM_206889 exon22 c.90979-61T>C 0.0397364 0.0149 Uncertain 21_47970581_G->A 21 47970581 47970581 G A snp 1746.77 0/1 99 160 84 76 0.47 exonic rs2255397 DIP2A AU synonymous SNV NM_015151 exon23 c.G2763A p.T921T 0.265575 0.3452 0.223518 0.2238 0.3102 Uncertain 21_47971539_G->A 21 47971539 47971539 G A snp 2268.77 1/1 99 81 0 81 1.0 intronic rs2255526 DIP2A AU NM_015151 exon24 c.92502-7G>A 0.743411 0.7361 0.772299 0.7247 0.7666 Uncertain 21_47974582_A->G 21 47974582 47974582 A G snp 1336.77 0/1 99 146 78 68 0.47 exonic rs1107065 DIP2A AU synonymous SNV NM_015151 exon27 c.A3249G p.T1083T 0.331669 0.3433 0.355041 0.4442 0.3873 Uncertain 21_47975808_T->C 21 47975808 47975808 T C snp 220.77 0/1 99 14 5 9 0.64 intronic rs139715469 DIP2A AU NM_015151 exon29 c.96850-86T>C 0.00658946 0.0308 Uncertain 21_47978321_-->C 21 47978321 47978321 - C indel 5334.73 1/1 99 127 0 127 1.0 intronic rs34920477 DIP2A AU NM_015151 exon32 c.99262+15insC 1 1 0.999747 1.0000 0.9997 Uncertain 21_47978421_G->A 21 47978421 47978421 G A snp 1421.77 0/1 99 118 51 67 0.57 intronic rs2839323 DIP2A AU NM_015151 exon32 c.99262+115G>A 0.0333466 0.0149 0.0556 0.0115 Uncertain 21_47980570_A->G 21 47980570 47980570 A G snp 5340.77 1/1 99 197 0 197 1.0 intronic rs2070429 DIP2A AU NM_015151 exon33 c.101590-64A>G 0.726038 0.7391 0.739159 Uncertain 21_47980760_T->G 21 47980760 47980760 T G snp 1843.77 0/1 99 157 83 74 0.47 intronic rs2839324 DIP2A AU NM_015151 exon33 c.101652+64T>G 0.0920527 0.0149 0.136881 Uncertain 21_47980913_G->T 21 47980913 47980913 G T snp 32.77 0/1 61 5 3 2 0.4 intronic rs2839325 DIP2A AU NM_015151 exon33 c.101652+217G>T 0.461062 0.4018 Uncertain 21_47983657_G->A 21 47983657 47983657 G A snp 2035.77 1/1 99 66 0 66 1.0 intronic rs762253 DIP2A AU NM_015151 exon35 c.104726-113G>A 0.921326 0.9187 Uncertain 21_47986633_C->A 21 47986633 47986633 C A snp 6402.77 1/1 99 207 0 207 1.0 intronic rs3819044 DIP2A AU NM_015151 exon37 c.107552+37C>A 0.909944 0.9008 0.914802 0.9056 0.8875 Uncertain 21_47987167_T->C 21 47987167 47987167 T C snp 80.77 0/1 99 7 4 3 0.43 intronic rs2839337 DIP2A AU NM_015151 exon38 c.108238-115T>C 0.370407 0.3403 Uncertain 21_48022230_C->G 21 48022230 48022230 C G snp 1348.77 0/1 99 128 72 56 0.44 exonic rs1051169 S100B AU synonymous SNV NM_006272 exon2 c.G99C p.L33L 0.566893 0.5774 0.582116 0.6402 0.5460 Uncertain 21_48022375_C->A 21 48022375 48022375 C A snp 972.77 0/1 99 76 39 37 0.49 intronic rs2186358 S100B AU NM_006272 exon2 c.3054+46C>A 0.783546 0.9097 0.734507 0.7882 0.8923 Uncertain 21_48063476_C->G 21 48063476 48063476 C G snp 785.77 1/1 57 27 0 27 1.0 exonic rs10854485 PRMT2 AU synonymous SNV NM_001242864 exon3 c.C69G p.A23A 0.863019 0.9067 0.805936 0.8119 0.8903 Uncertain 21_48071901_C->T 21 48071901 48071901 C T snp 760.77 0/1 99 99 62 37 0.37 exonic rs77776707 PRMT2 AU nonsynonymous SNV NM_001242865 exon7 c.C838T p.P280S 0.0081869 0.0159 0.002267 0.0050 0.0176 0 D 1 N -0.886 T Pathogenic 21_48078611_G->A 21 48078611 48078611 G A snp 2541.77 0/1 99 241 130 111 0.46 intronic rs2070436 PRMT2 AU NM_001535 exon7 c.21793-45G>A 0.178315 0.3194 0.129248 0.1864 0.3055 Uncertain 22_16157449_T->C 22 16157449 16157449 T C snp 37.77 0/1 33 4 1 3 0.75 ncRNA_intronic DUXAP8 AU 0 D 1 N -0.980 T Uncertain 22_16157496_A->G 22 16157496 16157496 A G snp 90.77 0/1 33 9 2 7 0.78 ncRNA_intronic DUXAP8 AU 0 D 1 N -0.965 T Uncertain 22_16157603_G->C 22 16157603 16157603 G C snp 101.77 0/1 99 12 6 6 0.5 ncRNA_intronic rs370790235 DUXAP8 AU 0.7856 0.8047 Uncertain 22_16157622_G->C 22 16157622 16157622 G C snp 98.77 0/1 99 12 8 4 0.33 ncRNA_intronic rs374192809 DUXAP8 AU 0.61222 0.6389 0.7357 0.7245 0 D 1 N -1.000 T Uncertain 22_16157883_T->C 22 16157883 16157883 T C snp 181.77 0/1 99 28 16 12 0.43 ncRNA_intronic rs368849066 DUXAP8 AU 0.2502 0.2338 0 D 1 N -0.990 T Uncertain 22_16157913_T->G 22 16157913 16157913 T G snp 143.77 0/1 99 21 12 9 0.43 ncRNA_intronic rs770027687 DUXAP8 AU 0.2788 0.2578 0 D 1 N -1.002 T Uncertain 22_16157951_A->G 22 16157951 16157951 A G snp 58.77 0/1 87 14 7 7 0.5 ncRNA_intronic rs766349174 DUXAP8 AU 0.25 . Uncertain 22_16157967_T->C 22 16157967 16157967 T C snp 30.77 0/1 59 9 4 5 0.56 ncRNA_intronic rs754510081 DUXAP8 AU 0.3182 . Uncertain 22_16157975_A->G 22 16157975 16157975 A G snp 30.77 0/1 59 8 3 5 0.63 ncRNA_intronic rs764927628 DUXAP8 AU 0.3 . Uncertain 22_17054103_G->A 22 17054103 17054103 G A snp 466.77 0/1 99 31 12 19 0.61 intergenic rs4008588 OR11H1 AU 0.13758 0.2024 Uncertain 22_17054155_T->C 22 17054155 17054155 T C snp 161.9 1/1 15 6 0 6 1.0 intergenic rs4008589 OR11H1 AU 1 1 Uncertain 22_17054332_T->C 22 17054332 17054332 T C snp 1363.77 0/1 99 139 74 65 0.47 intergenic rs143558414 OR11H1 AU 0.13758 0.2024 Uncertain 22_17055569_T->G 22 17055569 17055569 T G snp 567.77 0/1 99 61 36 25 0.41 intergenic rs3729688 OR11H1 AU 0.427516 0.4365 Uncertain 22_17060410_TTTG->- 22 17060410 17060413 TTTG - indel 1704.73 0/1 99 75 35 40 0.53 intergenic rs147992329 OR11H1 AU 0.095647 0.2103 Uncertain 22_17060419_T->C 22 17060419 17060419 T C snp 614.77 0/1 99 59 30 29 0.49 intergenic rs142683207 OR11H1 AU 0.148363 0.2113 Uncertain 22_17063359_A->G 22 17063359 17063359 A G snp 2022.77 1/1 99 69 0 69 1.0 intergenic rs2006108 OR11H1 AU 0.909545 0.9881 Uncertain 22_17072483_A->G 22 17072483 17072483 A G snp 7697.77 1/1 99 250 0 250 1.0 exonic rs2236639 CCT8L2 AU nonsynonymous SNV NM_014406 exon1 c.T958C p.W320R 0.870407 0.6875 0.935625 0.8916 0.6551 0.24 T 0.0 P -1.036 T 0.0 T 0.0 T Pathogenic 22_17073066_A->G 22 17073066 17073066 A G snp 5204.77 1/1 99 195 0 195 1.0 exonic rs5747988 CCT8L2 AU synonymous SNV NM_014406 exon1 c.T375C p.A125A 0.869209 0.6875 0.937029 0.8916 0.6562 Uncertain 22_17073475_C->T 22 17073475 17073475 C T snp 106.77 0/1 99 16 10 6 0.38 UTR5 rs2070503 CCT8L2 AU 0.0944489 0.1736 0.013545 0.0531 0.1900 Uncertain 22_17156280_A->G 22 17156280 17156280 A G snp 524.77 0/1 99 27 11 16 0.59 ncRNA_exonic rs6518594 ANKRD62P1-PARP4P3 AU 0.760783 0.7202 Uncertain 22_17173012_C->T 22 17173012 17173012 C T snp 526.77 1/1 39 17 0 17 1.0 intergenic rs2845360 ANKRD62P1-PARP4P3 AU Uncertain 22_17175554_G->A 22 17175554 17175554 G A snp 3404.77 1/1 99 134 1 133 0.99 intergenic rs2845363 ANKRD62P1-PARP4P3 AU Uncertain 22_17176378_C->G 22 17176378 17176378 C G snp 439.77 1/1 33 15 0 15 1.0 intergenic rs2529881 ANKRD62P1-PARP4P3 AU Uncertain 22_17177682_C->A 22 17177682 17177682 C A snp 281.78 1/1 24 17 0 17 1.0 intergenic rs3020747 ANKRD62P1-PARP4P3 AU 0.038738 Uncertain 22_17177746_A->G 22 17177746 17177746 A G snp 977.77 1/1 72 36 0 36 1.0 intergenic rs2845368 ANKRD62P1-PARP4P3 AU 0.0265575 0.002 Uncertain 22_17177794_C->T 22 17177794 17177794 C T snp 374.77 0/1 99 33 18 15 0.45 intergenic rs2529884 ANKRD62P1-PARP4P3 AU Uncertain 22_17177813_A->C 22 17177813 17177813 A C snp 744.77 1/1 57 25 0 25 1.0 intergenic rs2845369 ANKRD62P1-PARP4P3 AU Uncertain 22_17178015_C->T 22 17178015 17178015 C T snp 197.77 0/1 99 23 16 7 0.3 intergenic rs202098051 ANKRD62P1-PARP4P3 AU 0.08127 0.1478 Uncertain 22_17178184_T->C 22 17178184 17178184 T C snp 4057.77 1/1 99 161 1 160 0.99 intergenic rs2529885 ANKRD62P1-PARP4P3 AU 0.113419 0.1151 Uncertain 22_17178204_G->A 22 17178204 17178204 G A snp 3725.77 1/1 99 158 6 152 0.96 intergenic rs2845370 ANKRD62P1-PARP4P3 AU Uncertain 22_17178213_A->G 22 17178213 17178213 A G snp 3796.77 1/1 99 153 4 149 0.97 intergenic rs2845371 ANKRD62P1-PARP4P3 AU 0.0660942 0.1171 Uncertain 22_17178230_C->T 22 17178230 17178230 C T snp 1294.77 0/1 99 136 81 55 0.4 intergenic rs16981507 ANKRD62P1-PARP4P3 AU Uncertain 22_17178239_G->A 22 17178239 17178239 G A snp 1685.77 0/1 99 126 53 73 0.58 intergenic rs9605077 ANKRD62P1-PARP4P3 AU Uncertain 22_17178332_G->T 22 17178332 17178332 G T snp 1346.77 1/1 99 45 0 45 1.0 intergenic rs2845372 ANKRD62P1-PARP4P3 AU 0.115415 0.1181 Uncertain 22_17178479_C->A 22 17178479 17178479 C A snp 2546.77 1/1 99 95 0 95 1.0 intergenic rs2529886 ANKRD62P1-PARP4P3 AU 0.0329473 0.0179 Uncertain 22_17178684_T->C 22 17178684 17178684 T C snp 618.77 0/1 99 73 46 27 0.37 intergenic rs16981513 ANKRD62P1-PARP4P3 AU 0.123203 0.1458 Uncertain 22_17178924_A->T 22 17178924 17178924 A T snp 673.77 0/1 99 64 30 34 0.53 intergenic rs2845373 ANKRD62P1-PARP4P3 AU 0.438698 0.6448 Uncertain 22_17178986_T->C 22 17178986 17178986 T C snp 354.77 0/1 99 26 13 13 0.5 intergenic rs1800394 ANKRD62P1-PARP4P3 AU 0.0742812 0.1062 Uncertain 22_17264565_G->T 22 17264565 17264565 G T snp 1330.77 1/1 96 44 0 44 1.0 exonic rs5748622 XKR3 AU nonsynonymous SNV NM_175878 exon4 c.C1324A p.H442N 0.648163 0.369 1 T 0.0 P -1.004 T 0.898 T 0.094 P Pathogenic 22_17265124_A->C 22 17265124 17265124 A C snp 2644.77 1/1 99 84 0 84 1.0 exonic rs5748623 XKR3 AU nonsynonymous SNV NM_175878 exon4 c.T765G p.F255L 0.694489 0.504 0.0037 0.0046 1 T 0.000 P -0.995 T 0.0 T 0.0 T Pathogenic 22_17280822_G->A 22 17280822 17280822 G A snp 2808.77 0/1 99 249 135 114 0.46 exonic rs5748648 XKR3 AU nonsynonymous SNV NM_175878 exon3 c.C428T p.T143M 0.142772 0.0952 0.100598 0.0951 0.1049 0.16 T 0.0 P -1.097 T 0.021 T 0.002 T Pathogenic 22_17289118_C->T 22 17289118 17289118 C T snp 176.9 1/1 15 5 0 5 1.0 intronic rs2072466 XKR3 AU NM_175878 exon3 c.24465+145C>T 0.851038 0.7083 Uncertain 22_17326914_G->A 22 17326914 17326914 G A snp 2926.77 1/1 99 110 0 110 1.0 intergenic rs165927 HSFY1P1 AU 0.465056 0.631 Uncertain 22_17327068_A->G 22 17327068 17327068 A G snp 1154.77 1/1 84 36 0 36 1.0 intergenic rs165588 HSFY1P1 AU 0.995607 1 Uncertain 22_17446991_C->T 22 17446991 17446991 C T snp 797.77 0/1 99 71 40 31 0.44 exonic rs4819925 GAB4 AU synonymous SNV NM_001037814 exon6 c.G1287A p.K429K 0.82528 0.8353 0.815924 0.7719 0.8381 Uncertain 22_17447438_G->A 22 17447438 17447438 G A snp 43.77 0/1 72 4 2 2 0.5 intronic rs5746947 GAB4 AU NM_001037814 exon5 c.3632+184G>A 0.742612 0.8284 Uncertain 22_17449076_C->G 22 17449076 17449076 C G snp 725.77 0/1 99 61 32 29 0.48 intronic rs5748768 GAB4 AU NM_001037814 exon6 c.5565-111C>G 0.826677 0.8363 Uncertain 22_17488727_A->C 22 17488727 17488727 A C snp 85.77 0/1 69 6 2 4 0.67 intronic rs5748800 GAB4 AU NM_001037814 exon10 c.45208-103A>C 0.813299 0.8373 Uncertain 22_17488823_-->G 22 17488823 17488823 - G indel 535.73 0/1 99 34 19 15 0.44 intronic rs11378060 GAB4 AU NM_001037814 exon10 c.45208-7insG 0.833666 0.8373 0.838119 0.7949 0.8377 Uncertain 22_17582788_C->T 22 17582788 17582788 C T snp 113.77 0/1 99 11 7 4 0.36 intronic rs41454546 IL17RA AU NM_001289905 exon6 c.16904-97C>T 0.151957 0.2639 Uncertain 22_17585808_G->C 22 17585808 17585808 G C snp 1044.77 0/1 99 78 37 41 0.53 intronic rs721930 IL17RA AU NM_001289905 exon9 c.19719+108G>C 0.161142 0.2887 Uncertain 22_17586471_C->T 22 17586471 17586471 C T snp 3928.77 1/1 99 143 0 143 1.0 intronic rs2241046 IL17RA AU NM_001289905 exon10 c.20499-9C>T 0.832268 0.8105 0.814547 0.8115 0.8248 Uncertain 22_17586583_C->G 22 17586583 17586583 C G snp 1707.77 1/1 99 56 0 56 1.0 intronic rs2241047 IL17RA AU NM_001289905 exon10 c.20511+91C>G 0.55611 0.7837 0.490802 Uncertain 22_17586610_T->- 22 17586610 17586610 T - indel 1160.73 1/1 90 34 0 34 1.0 intronic rs144979983 IL17RA AU NM_001289905 exon10 c.20511+118delT 0.0103834 0.0099 Uncertain 22_17586614_G->C 22 17586614 17586614 G C snp 987.77 1/1 72 29 0 29 1.0 intronic rs35078252 IL17RA AU NM_001289905 exon10 c.20511+122G>C 0.000998403 0.001 Uncertain 22_17586631_G->A 22 17586631 17586631 G A snp 759.77 1/1 57 21 0 21 1.0 intronic rs4819959 IL17RA AU NM_014339 exon11 c.20761-111G>A 0.55631 0.7907 Uncertain 22_17586716_TCAC->- 22 17586716 17586719 TCAC - indel 2052.73 1/1 93 35 0 35 1.0 intronic rs397780227 IL17RA AU NM_014339 exon11 c.20761-26_20761-23delTCAC 0.555511 0.7847 0.470889 0.5259 0.7867 Uncertain 22_17589297_G->A 22 17589297 17589297 G A snp 1061.77 0/1 99 112 69 43 0.38 exonic rs2229151 IL17RA AU synonymous SNV NM_014339 exon13 c.G1188A p.L396L 0.11222 0.2996 0.005382 0.0712 0.3141 Uncertain 22_17589794_C->A 22 17589794 17589794 C A snp 2584.77 0/1 99 214 105 109 0.51 exonic rs12484684 IL17RA AU nonsynonymous SNV NM_014339 exon13 c.C1685A p.P562Q 0.113019 0.2976 0.005082 0.0853 0.3383 0.03 T 1.000 P -1.074 T 1.0 D 0.999 D Pathogenic 22_17600148_A->G 22 17600148 17600148 A G snp 269.8 1/1 21 9 0 9 1.0 UTR3 rs9605220 CECR6 AU 0.853834 0.8591 Uncertain 22_17600293_G->A 22 17600293 17600293 G A snp 923.77 0/1 99 77 36 41 0.53 exonic rs13056456 CECR6 AU synonymous SNV NM_031890 exon1 c.C1725T p.A575A 0.163938 0.3552 0.034841 0.2075 0.4900 Uncertain 22_17600497_G->A 22 17600497 17600497 G A snp 1598.77 0/1 99 149 78 71 0.48 exonic rs3827295 CECR6 AU synonymous SNV NM_031890 exon1 c.C1521T p.L507L 0.164537 0.3532 0.029772 0.1589 0.4712 Uncertain 22_17600977_G->A 22 17600977 17600977 G A snp 2704.77 0/1 99 224 110 114 0.51 exonic rs5994165 CECR6 AU synonymous SNV NM_031890 exon1 c.C1041T p.F347F 0.476837 0.495 0.405803 0.4307 0.4994 Uncertain 22_17601466_T->C 22 17601466 17601466 T C snp 940.77 0/1 99 70 33 37 0.53 exonic rs75243280 CECR6 AU synonymous SNV NM_031890 exon1 c.A552G p.R184R 0.226038 0.2669 0.164250 0.2891 0.24 Uncertain 22_17602839_G->A 22 17602839 17602839 G A snp 3190.85 1/1 99 113 0 113 1.0 ncRNA_exonic rs5992629 LOC100996342 AU 0.878195 0.8581 0.8590 0.8960 Uncertain 22_17603477_A->G 22 17603477 17603477 A G snp 376.77 0/1 99 33 18 15 0.45 ncRNA_intronic rs5748871 LOC100996342 AU 0.448283 0.4286 0.4930 0.3947 Uncertain 22_17603503_G->A 22 17603503 17603503 G A snp 517.77 0/1 99 47 23 24 0.51 ncRNA_intronic rs28360663 LOC100996342 AU 0.211262 0.3581 0.1463 0.4158 Uncertain 22_17603801_C->A 22 17603801 17603801 C A snp 36.77 0/1 31 3 1 2 0.67 ncRNA_intronic rs5746996 LOC100996342 AU 0.367412 0.3343 Uncertain 22_17611179_C->A 22 17611179 17611179 C A snp 1105.77 1/1 81 33 0 33 1.0 ncRNA_intronic rs5748882 LOC100996342 AU 0.229233 0.4504 Uncertain 22_17611515_T->C 22 17611515 17611515 T C snp 504.77 1/1 39 15 0 15 1.0 ncRNA_intronic rs5748883 LOC100996342 AU 0.339257 0.6597 Uncertain 22_17619378_T->C 22 17619378 17619378 T C snp 861.77 1/1 66 24 0 24 1.0 intronic rs2244682 CECR5 AU NM_017829 exon2 c.529-61T>C 0.247804 0.4573 Uncertain 22_17623837_A->G 22 17623837 17623837 A G snp 602.77 1/1 48 17 0 17 1.0 intronic rs5747009 CECR5 AU NM_017829 exon4 c.5077-150A>G 0.361022 0.6736 Uncertain 22_17623880_-->C 22 17623880 17623880 - C indel 1519.73 1/1 99 42 0 42 1.0 intronic rs34058953 CECR5 AU NM_017829 exon4 c.5077-107insC 0.885583 0.879 Uncertain 22_17626236_C->T 22 17626236 17626236 C T snp 53.74 1/1 6 3 0 3 1.0 intronic rs3815480 CECR5 AU NM_017829 exon5 c.7097+229C>T 0.764776 0.7272 Uncertain 22_17629544_-->A 22 17629544 17629544 - A indel 369.73 1/1 36 13 0 13 1.0 intronic rs3214349 CECR5 AU NM_017829 exon6 c.10540+94insA 0.533946 0.6815 Uncertain 22_17630389_G->C 22 17630389 17630389 G C snp 472.77 1/1 36 14 0 14 1.0 intronic rs1034858 CECR5 AU NM_017829 exon7 c.11521-42G>C 0.391573 0.5516 0.348254 0.4633 0.5511 Uncertain 22_17630486_C->A 22 17630486 17630486 C A snp 1527.77 1/1 99 58 0 58 1.0 exonic rs1034859 CECR5 AU synonymous SNV NM_033070 exon2 c.G276T p.G92G 0.534345 0.6796 0.483700 0.5723 0.6915 Uncertain 22_17630647_G->A 22 17630647 17630647 G A snp 731.77 0/1 99 63 30 33 0.52 intronic rs2286957 CECR5 AU NM_017829 exon7 c.11725+12G>A 0.0684904 0.1647 0.003152 0.0492 0.1915 Uncertain 22_17640177_C->- 22 17640177 17640177 C - indel 97.73 0/1 99 58 47 11 0.19 upstream rs764991633 CECR5 AU 0 . Uncertain 22_17669151_C->T 22 17669151 17669151 C T snp 1596.77 1/1 99 50 0 50 1.0 intronic rs2231496 CECR1 AR NM_177405 exon4 c.6856-77C>T 0.67492 0.87 Uncertain 22_17671133_C->G 22 17671133 17671133 C G snp 3768.77 1/1 99 135 0 135 1.0 intronic rs2286348 CECR1 AR NM_177405 exon5 c.8550+211C>G 0.48123 0.5893 Uncertain 22_17680519_A->C 22 17680519 17680519 A C snp 1759.77 0/1 99 125 50 75 0.6 intronic rs17807317 CECR1 AR NM_177405 exon7 c.18066+81A>C 0.3123 0.0962 0.429725 0.4115 0.0897 Uncertain 22_17690409_G->A 22 17690409 17690409 G A snp 451.77 0/1 99 63 44 19 0.3 exonic rs362129 CECR1 AR synonymous SNV NM_001282225 exon2 c.C159T p.N53N 0.311302 0.0744 0.449562 0.4341 0.0669 Uncertain 22_17956759_C->G 22 17956759 17956759 C G snp 3060.77 1/1 99 111 0 111 1.0 intronic rs4819593 CECR2 AU NM_001290047 exon1 c.97+35C>G 0.842652 0.998 0.728103 0.7374 0.9992 Uncertain 22_17978600_G->C 22 17978600 17978600 G C snp 4151.77 1/1 99 150 0 150 1.0 intronic rs7284169 CECR2 AU NM_001290047 exon3 c.21954+19G>C 0.489417 0.5427 0.524583 0.5585 0.5968 Uncertain 22_17981973_C->T 22 17981973 17981973 C T snp 1058.77 0/1 99 112 67 45 0.4 intronic rs77150705 CECR2 AU NM_001290047 exon5 c.25486-140C>T 0.0119808 0.0159 Uncertain 22_17990852_G->A 22 17990852 17990852 G A snp 3020.77 1/1 99 110 2 108 0.98 exonic rs5747211 CECR2 AU nonsynonymous SNV NM_001290046 exon8 c.G389A p.R130H 0.203874 0.4444 0.116907 0.1615 0.4905 0.04 T 0.842 P -0.945 T 0.999 D 0.908 D Pathogenic 22_17991044_ATG->- 22 17991044 17991046 ATG - indel 941.73 0/1 99 62 37 25 0.4 intronic CECR2 AU NM_001290047 exon7 c.34301+116_34301+118delATG Uncertain 22_17991047_-->C 22 17991047 17991047 - C indel 583.73 0/1 99 54 36 18 0.33 intronic CECR2 AU NM_001290047 exon7 c.34301+119insC Uncertain 22_18018509_T->C 22 18018509 18018509 T C snp 564.77 0/1 99 26 7 19 0.73 intronic rs2300686 CECR2 AU NM_001290047 exon11 c.61793+89T>C 0.221046 0.4256 Uncertain 22_18018516_C->T 22 18018516 18018516 C T snp 155.77 0/1 99 23 17 6 0.26 intronic rs1296792 CECR2 AU NM_001290047 exon11 c.61793+96C>T 0.0756789 0.0387 Uncertain 22_18018604_A->C 22 18018604 18018604 A C snp 503.77 0/1 99 43 25 18 0.42 intronic rs2300687 CECR2 AU NM_001290047 exon12 c.62054-77A>C 0.239018 0.4256 Uncertain 22_18018940_T->C 22 18018940 18018940 T C snp 140.77 0/1 99 12 7 5 0.42 intronic rs1296793 CECR2 AU NM_001290047 exon12 c.62181+132T>C 0.0756789 0.0387 Uncertain 22_18021604_C->T 22 18021604 18021604 C T snp 2250.77 0/1 99 201 107 94 0.47 exonic rs1296794 CECR2 AU nonsynonymous SNV NM_001290046 exon15 c.C1472T p.P491L 0.076278 0.0397 0.141786 0.1518 0.0366 0.08 T 1.000 P -1.137 T 1.0 D 0.998 D Pathogenic 22_18021760_A->G 22 18021760 18021760 A G snp 325.77 0/1 99 15 5 10 0.67 intronic rs1296795 CECR2 AU NM_001290047 exon15 c.65218-85A>G 0.215855 0.0585 Uncertain 22_18027818_TT->- 22 18027818 18027819 TT - indel 258.19 1/1 4 12 1 11 0.92 intronic rs149314645 CECR2 AU NM_001290047 exon16 c.71210-19_71210-18delTT 0.885184 0.9425 0.4070 0.4724 Uncertain 22_18030097_A->- 22 18030097 18030097 A - indel 449.73 0/1 99 65 22 43 0.66 intronic rs554415948 CECR2 AU NM_001290047 exon16 c.72627+843delA 0.570487 0.62 Uncertain 22_18031544_A->G 22 18031544 18031544 A G snp 74.77 0/1 99 7 4 3 0.43 intronic rs113837 CECR2 AU NM_001290047 exon17 c.75088-171A>G 0.785743 0.5823 Uncertain 22_18062987_T->C 22 18062987 18062987 T C snp 80.77 0/1 98 6 3 3 0.5 UTR3 rs1003494 LOC101929372 AU 0.104233 0.1379 Uncertain 22_18075567_T->- 22 18075567 18075567 T - indel 58.73 0/1 96 64 21 43 0.67 intronic rs150344720 ATP6V1E1 AU NM_001696 exon1 c.63+65delT Uncertain 22_18077387_A->- 22 18077387 18077387 A - indel 842.73 0/1 99 94 52 42 0.45 splicing rs35683311 ATP6V1E1 AU NM_001696 exon2 c.1943+5delA 0.366613 0.2044 0.4383 0.3497 Pathogenic 22_18077443_C->T 22 18077443 18077443 C T snp 1008.77 0/1 99 96 52 44 0.46 intronic rs116576310 ATP6V1E1 AU NM_001696 exon2 c.1943+61C>T 0.0345447 0.0397 Uncertain 22_18081156_G->T 22 18081156 18081156 G T snp 1661.77 0/1 99 119 50 69 0.58 intronic rs2072555 ATP6V1E1 AU NM_001696 exon3 c.5615+102G>T 0.220048 0.0992 Uncertain 22_18082669_A->G 22 18082669 18082669 A G snp 52.74 1/1 6 3 1 2 0.67 intronic rs5992075 ATP6V1E1 AU NM_001696 exon4 c.7353-123A>G 0.282548 0.2113 Uncertain 22_18084001_T->G 22 18084001 18084001 T G snp 2575.77 1/1 99 96 0 96 1.0 intronic rs5747254 ATP6V1E1 AU NM_001696 exon5 c.8508+54T>G Uncertain 22_18084033_C->T 22 18084033 18084033 C T snp 1295.77 0/1 99 72 19 53 0.74 intronic rs3747023 ATP6V1E1 AU NM_001696 exon5 c.8508+86C>T 0.281949 0.2113 Uncertain 22_18096199_G->A 22 18096199 18096199 G A snp 422.77 0/1 99 32 15 17 0.53 intronic rs17809319 ATP6V1E1 AU NM_001696 exon7 c.20647+113G>A 0.128195 0.1677 Uncertain 22_18111431_T->C 22 18111431 18111431 T C snp 1739.77 0/1 99 219 141 78 0.36 UTR5 rs7751 ATP6V1E1 AU 0.342851 0.2123 0.423804 0.3085 0.1972 Uncertain 22_18171650_C->T 22 18171650 18171650 C T snp 435.77 1/1 33 14 0 14 1.0 intronic rs5013026 BCL2L13 AU NM_015367 exon4 c.33274-101C>T 0.60623 0.8462 Uncertain 22_18178859_C->T 22 18178859 18178859 C T snp 3388.77 1/1 99 122 0 122 1.0 intronic rs2257083 BCL2L13 AU NM_015367 exon5 c.40429-47C>T 0.858626 0.9375 0.864909 0.8413 0.9378 Uncertain 22_18209613_A->G 22 18209613 18209613 A G snp 4212.77 1/1 99 143 0 143 1.0 exonic rs4488761 BCL2L13 AU synonymous SNV NM_001270727 exon5 c.A699G p.S233S 0.665935 0.9325 0.552437 0.5914 0.9319 Uncertain 22_18218464_T->C 22 18218464 18218464 T C snp 599.77 1/1 45 17 0 17 1.0 intronic rs181382 BID AU NM_001244572 exon1 c.12+107T>C 0.865216 0.9375 Uncertain 22_18218475_C->G 22 18218475 18218475 C G snp 508.77 1/1 39 16 0 16 1.0 intronic rs181383 BID AU NM_001244572 exon1 c.12+118C>G 0.850439 0.9375 Uncertain 22_18222263_A->G 22 18222263 18222263 A G snp 3803.77 1/1 99 146 0 146 1.0 intronic rs181390 BID AU NM_001244572 exon3 c.3909+9A>G 0.741813 0.9315 0.685453 0.7081 0.9363 Uncertain 22_18226521_C->T 22 18226521 18226521 C T snp 254.8 1/1 21 7 0 7 1.0 intronic rs738094 BID AU NM_001244567 exon4 c.8223-47C>T 0.535543 0.8056 0.448217 0.5809 0.8104 Uncertain 22_18233000_G->A 22 18233000 18233000 G A snp 1253.77 1/1 90 43 0 43 1.0 intronic rs181405 BID AU NM_001244569 exon4 c.14595+60G>A 0.46885 0.7391 Uncertain 22_18257138_T->G 22 18257138 18257138 T G snp 433.77 0/1 99 58 36 22 0.38 intronic rs443912 BID AU NM_001244570 exon4 c.38801-8T>G 0.678714 0.6042 0.7796 0.625 Uncertain 22_18274092_G->C 22 18274092 18274092 G C snp 2585.77 0/1 99 196 100 96 0.49 intronic rs451548 MICAL3 AU NM_015241 exon3 c.570+25G>C 0.26877 0.2163 0.269770 0.2999 0.2535 Uncertain 22_18291791_C->G 22 18291791 18291791 C G snp 1107.77 0/1 99 100 50 50 0.5 intronic rs423710 MICAL3 AU NM_015241 exon4 c.18206+88C>G 0.360623 0.2817 Uncertain 22_18293650_A->G 22 18293650 18293650 A G snp 1292.77 0/1 99 81 30 51 0.63 intronic rs436590 MICAL3 AU NM_015241 exon5 c.20082+71A>G 0.550719 0.4821 Uncertain 22_18301600_G->A 22 18301600 18301600 G A snp 1102.77 0/1 99 93 45 48 0.52 exonic rs78616323 MICAL3 AU nonsynonymous SNV NM_015241 exon26 c.C3827T p.T1276I 0.0333466 0.1567 0.000987 0.0179 0.1652 0.1 T 1.000 D -1.140 T 0.294 T 0.051 T Pathogenic 22_18324564_C->T 22 18324564 18324564 C T snp 899.77 0/1 99 67 25 42 0.63 intronic rs750559 MICAL3 AU NM_001122731 exon2 c.7372-23C>T 0.185903 0.1885 0.205907 0.2511 0.2241 0.43 T 0.000 P -1.113 T 0.127 T 0.012 T Uncertain 22_18370066_C->A 22 18370066 18370066 C A snp 3131.77 1/1 99 113 1 112 0.99 intronic rs4819472 MICAL3 AU NM_001136004 exon10 c.22669-22C>A 0.999601 1 0.997670 0.9986 1 Uncertain 22_18562888_C->T 22 18562888 18562888 C T snp 574.77 0/1 99 44 20 24 0.55 intronic rs464541 PEX26 AU NM_001199319 exon3 c.1638+108C>T 0.575679 0.3571 Uncertain 22_18571008_G->A 22 18571008 18571008 G A snp 1818.77 0/1 99 124 48 76 0.61 UTR3 rs464385 PEX26 AU 0.422724 0.3383 0.6133 0.4412 0 D 0.0 P -0.982 T Uncertain 22_18609046_G->A 22 18609046 18609046 G A snp 1312.77 0/1 99 124 64 60 0.48 intronic rs362195 TUBA8 AR NM_001193414 exon4 c.4680-74G>A 0.137979 0.3413 Uncertain 22_18609642_C->T 22 18609642 18609642 C T snp 3298.77 0/1 99 250 125 125 0.5 exonic rs362203 TUBA8 AR synonymous SNV NM_018943 exon4 c.C897T p.N299N 0.164736 0.4137 0.035138 0.1058 0.4256 CLINSIG=non-pathogenic|probable-non-pathogenic;CLNDBN=not_provided|not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter|no_assertion_criteria_provided;CLNACC=RCV000126178.1|RCV000147830.1;CLNDSDB=MedGen|MedGen;CLNDSDBID=CN221809|CN169374 Uncertain 22_18609854_G->A 22 18609854 18609854 G A snp 1618.77 0/1 99 91 39 52 0.57 intronic rs361776 TUBA8 AR NM_001193414 exon4 c.5361+53G>A 0.213259 0.4137 Uncertain 22_18628715_C->T 22 18628715 18628715 C T snp 798.77 0/1 99 96 59 37 0.39 intergenic rs361534 TUBA8 AR 0.623802 0.6677 0.5348 0.6970 Uncertain 22_18649861_A->G 22 18649861 18649861 A G snp 372.77 0/1 99 20 8 12 0.6 intronic rs2542109 USP18 AU NM_017414 exon5 c.9591-160A>G 0.604633 0.6865 Uncertain 22_18649922_A->G 22 18649922 18649922 A G snp 1186.77 0/1 99 103 57 46 0.45 intronic rs9605536 USP18 AU NM_017414 exon5 c.9591-99A>G 0.361821 0.1637 Uncertain 22_18650682_C->T 22 18650682 18650682 C T snp 1931.77 0/1 99 185 99 86 0.46 exonic rs3180408 USP18 AU nonsynonymous SNV NM_017414 exon6 c.C506T p.T169M 0.297324 0.1637 0.359373 0.3202 0.1654 0.11 T 0.0 P -0.957 T 0.57 P 0.165 P Pathogenic 22_18655758_G->A 22 18655758 18655758 G A snp 88.77 0/1 99 10 4 6 0.6 intronic rs117848191 USP18 AU NM_017414 exon9 c.15486-158G>A 0.0832668 0.0317 Uncertain 22_18655790_T->C 22 18655790 18655790 T C snp 373.77 0/1 99 33 15 18 0.55 intronic rs7287466 USP18 AU NM_017414 exon9 c.15486-126T>C 0.0856629 0.0665 Uncertain 22_18655798_G->A 22 18655798 18655798 G A snp 591.77 0/1 99 42 18 24 0.57 intronic rs7291057 USP18 AU NM_017414 exon9 c.15486-118G>A 0.0551118 0.0585 Uncertain 22_18655860_G->A 22 18655860 18655860 G A snp 1809.77 0/1 99 176 89 87 0.49 intronic rs4819484 USP18 AU NM_017414 exon9 c.15486-56G>A 0.813498 0.873 Uncertain 22_18774977_G->A 22 18774977 18774977 G A snp 109.03 1/1 12 6 0 6 1.0 ncRNA_intronic rs200108390 GGT3P AU Uncertain 22_18774993_G->A 22 18774993 18774993 G A snp 109.03 1/1 12 8 1 7 0.88 ncRNA_intronic rs2906841 GGT3P AU Uncertain 22_18775032_C->A 22 18775032 18775032 C A snp 172.84 1/1 18 12 0 12 1.0 ncRNA_intronic rs492871 GGT3P AU Uncertain 22_18775061_G->A 22 18775061 18775061 G A snp 83.77 0/1 99 53 42 11 0.21 ncRNA_exonic rs189425726 GGT3P AU Uncertain 22_18775372_C->G 22 18775372 18775372 C G snp 346.77 0/1 99 149 128 21 0.14 ncRNA_exonic rs200855725 GGT3P AU Uncertain 22_18775424_T->A 22 18775424 18775424 T A snp 86.77 0/1 99 60 50 10 0.17 ncRNA_intronic rs201973714 GGT3P AU Uncertain 22_18775482_A->G 22 18775482 18775482 A G snp 69.77 0/1 98 30 23 7 0.23 ncRNA_intronic rs201367283 GGT3P AU Uncertain 22_18896301_G->T 22 18896301 18896301 G T snp 4060.77 1/1 99 158 0 158 1.0 intronic rs5746636 DGCR6 AU NM_005675 exon3 c.3797-1383G>T 0.403155 0.6319 Uncertain 22_18896429_T->C 22 18896429 18896429 T C snp 86.28 1/1 9 3 0 3 1.0 intronic rs5747925 DGCR6 AU NM_005675 exon3 c.3797-1255T>C 0.516973 0.748 Uncertain 22_18897416_C->T 22 18897416 18897416 C T snp 229.84 1/1 18 8 0 8 1.0 intronic rs436638 DGCR6 AU NM_005675 exon3 c.3797-268C>T 0.960064 0.9633 Uncertain 22_18897578_G->A 22 18897578 18897578 G A snp 145.77 0/1 99 21 12 9 0.43 intronic rs149801298 DGCR6 AU NM_005675 exon3 c.3797-106G>A 0.00698882 0.0298 0.0042 0.0288 Uncertain 22_18898289_G->C 22 18898289 18898289 G C snp 1939.77 1/1 99 73 0 73 1.0 intronic rs441862 DGCR6 AU NM_005675 exon4 c.4513-111G>C 0.8123 0.9097 Uncertain 22_18898834_T->G 22 18898834 18898834 T G snp 56.74 1/1 6 2 0 2 1.0 intronic rs9618417 DGCR6 AU NM_005675 exon5 c.5165-218T>G Uncertain 22_18898840_G->A 22 18898840 18898840 G A snp 56.74 1/1 6 2 0 2 1.0 intronic rs2540657 DGCR6 AU NM_005675 exon5 c.5165-212G>A Uncertain 22_18899016_G->A 22 18899016 18899016 G A snp 439.77 1/1 33 16 0 16 1.0 intronic rs428224 DGCR6 AU NM_005675 exon5 c.5165-36G>A 0.81889 0.9097 0.8977 0.9150 Uncertain 22_18900669_A->G 22 18900669 18900669 A G snp 595.77 1/1 45 19 0 19 1.0 UTR3 rs383964 PRODH AR,AD 0.907548 0.9643 0.915407 0.9212 0.9528 Uncertain 22_18900750_G->A 22 18900750 18900750 G A snp 1870.77 1/1 99 68 0 68 1.0 exonic rs372055 PRODH AR,AD synonymous SNV NM_016335 exon15 c.C1741T p.L581L 0.763379 0.8224 0.758799 0.7890 0.8412 CLINSIG=unknown;CLNDBN=not_provided;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000115064.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Uncertain 22_18901004_C->T 22 18901004 18901004 C T snp 4376.77 1/1 99 169 0 169 1.0 exonic rs450046 PRODH AR,AD nonsynonymous SNV NM_016335 exon14 c.G1562A p.R521Q 0.905551 0.9633 0.904201 0.9171 0.9505 0.61 T 0.016 P -0.985 T 0.0 T 0.0 T CLINSIG=pathogenic|other|pathogenic;CLNDBN=Proline_dehydrogenase_deficiency|Schizophrenia_4|not_provided;CLNREVSTAT=no_assertion_criteria_provided|no_assertion_criteria_provided|no_assertion_criteria_provided;CLNACC=RCV000004222.4|RCV000004223.4|RCV000115065.1;CLNDSDB=MedGen:OMIM:Orphanet:SNOMED_CT|MedGen:OMIM|MedGen;CLNDSDBID=C0268529:239500:ORPHA419:61071003|C1833247:600850|CN221809 ID=CM057943;DIS=Increased enzyme activity;TAG=DFP;PUB=15662599 DFP Pathogenic 22_18901090_A->G 22 18901090 18901090 A G snp 2060.77 1/1 99 67 0 67 1.0 intronic rs385440 PRODH AR,AD NM_016335 exon2 c.352+51A>G 0.841853 0.9107 0.848749 0.8863 0.9140 Uncertain 22_18904414_A->G 22 18904414 18904414 A G snp 2737.77 1/1 99 107 0 107 1.0 exonic rs455072 PRODH AR,AD synonymous SNV NM_016335 exon13 c.T1515C p.F505F 0.83746 0.8948 0.9034 0.8988 Uncertain 22_18904606_T->G 22 18904606 18904606 T G snp 769.77 1/1 57 24 0 24 1.0 intronic rs375115 PRODH AR,AD NM_016335 exon3 c.3814+105T>G 0.83746 0.8948 Uncertain 22_18904643_G->A 22 18904643 18904643 G A snp 391.77 1/1 30 10 0 10 1.0 intronic rs426237 PRODH AR,AD NM_016335 exon3 c.3814+142G>A 0.83746 0.8948 Uncertain 22_18907124_G->A 22 18907124 18907124 G A snp 3321.77 1/1 99 114 2 112 0.98 intronic rs1076466 PRODH AR,AD NM_016335 exon5 c.6423+14G>A 0.525958 0.7629 0.411027 0.4689 0.7559 0.36 T 0.001 P -0.991 T Uncertain 22_18908875_A->G 22 18908875 18908875 A G snp 425.78 0/1 0 22 1 21 0.95 exonic rs1808320 PRODH AR,AD synonymous SNV NM_016335 exon9 c.T991C p.L331L 0.73143 0.8175 0.664512 0.6781 0.8064 Uncertain 22_18910257_C->T 22 18910257 18910257 C T snp 817.77 1/1 63 22 0 22 1.0 intronic rs2008912 PRODH AR,AD NM_016335 exon9 c.9642-72C>T 0.49361 0.756 Uncertain 22_18910285_C->- 22 18910285 18910285 C - indel 1535.73 1/1 99 41 0 41 1.0 intronic rs397868080 PRODH AR,AD NM_016335 exon9 c.9642-44delC 0.780751 0.9702 0.674469 0.6419 0.9685 Uncertain 22_18910301_A->G 22 18910301 18910301 A G snp 1914.77 1/1 99 62 0 62 1.0 intronic rs2008904 PRODH AR,AD NM_016335 exon9 c.9642-28A>G 0.780751 0.9692 0.674589 0.6401 0.9670 Uncertain 22_18910307_G->A 22 18910307 18910307 G A snp 2146.77 1/1 99 69 0 69 1.0 intronic rs2008903 PRODH AR,AD NM_016335 exon9 c.9642-22G>A 0.78095 0.9702 0.674231 0.6400 0.9679 Uncertain 22_18910756_C->G 22 18910756 18910756 C G snp 2557.77 1/1 99 80 0 80 1.0 intronic rs2008878 PRODH AR,AD NM_016335 exon10 c.10005+64C>G 0.790136 0.9702 0.675427 0.6504 0.9681 Uncertain 22_18912678_A->G 22 18912678 18912678 A G snp 5929.77 1/1 99 220 0 220 1.0 exonic rs4819756 PRODH AR,AD nonsynonymous SNV NM_016335 exon5 c.T553C p.W185R 0.78095 0.9712 0.673920 0.6417 0.9683 0.53 T 0.001 P -0.991 T 0.0 T 0.0 T ID=CM057554;DIS=Hyperprolinaemia, association with;TAG=DP;PUB=15662599 DP Pathogenic 22_18912848_A->G 22 18912848 18912848 A G snp 252.8 1/1 21 7 0 7 1.0 intronic rs380705 PRODH AR,AD NM_016335 exon11 c.12026+135A>G 0.96246 0.9762 Uncertain 22_18923745_G->T 22 18923745 18923745 G T snp 312.78 1/1 24 12 0 12 1.0 exonic rs2008720 PRODH AR,AD nonsynonymous SNV NM_016335 exon2 c.C56A p.P19Q 0.553315 0.8423 0.6653 0.8864 0.27 T 0.0 P -1.088 T ID=CM057552;DIS=Hyperprolinaemia, association with;TAG=DP;PUB=15662599 DP Pathogenic 22_19026613_A->G 22 19026613 19026613 A G snp 1574.77 1/1 99 61 0 61 1.0 exonic rs2072123 DGCR2 AU nonsynonymous SNV NM_005137 exon10 c.T1418C p.V473A 0.43151 0.3442 0.422101 0.3892 0.3463 0.84 T 0.000 P -0.977 T 0.0 T 0.001 T Pathogenic 22_19028476_T->C 22 19028476 19028476 T C snp 4412.77 1/1 99 151 0 151 1.0 intronic rs2073775 DGCR2 AU NM_001173534 exon2 c.2193-94T>C 0.538738 0.4137 Uncertain 22_19028480_T->C 22 19028480 19028480 T C snp 4667.77 1/1 99 158 0 158 1.0 intronic rs2073774 DGCR2 AU NM_001173534 exon2 c.2193-90T>C 0.430911 0.3442 Uncertain 22_19034079_A->C 22 19034079 19034079 A C snp 1004.77 ./1 99 35 0 35 1.0 ncRNA_exonic rs715539 DGCR11 AU 0.267372 0.2143 Uncertain 22_19034079_A->T 22 19034079 19034079 A T snp 1004.77 ./1 99 35 0 35 1.0 ncRNA_exonic rs715539 DGCR11 AU 0.163738 0.1319 Uncertain 22_19034240_A->G 22 19034240 19034240 A G snp 1594.77 1/1 99 59 0 59 1.0 ncRNA_exonic rs2012929 DGCR11 AU 0.538738 0.4157 0.5372 0.3636 Uncertain 22_19036232_A->G 22 19036232 19036232 A G snp 495.77 0/1 99 51 29 22 0.43 intronic rs17743444 DGCR2 AU NM_001173534 exon4 c.9779+76A>G 0.184505 0.1319 Uncertain 22_19048413_A->G 22 19048413 19048413 A G snp 5343.77 1/1 99 211 1 210 1.0 intronic rs2238739 DGCR2 AU NM_001173534 exon6 c.24337-2301A>G 0.538738 0.4147 0.491978 0.4774 0.4205 Uncertain 22_19048449_G->A 22 19048449 19048449 G A snp 2596.77 0/1 99 226 111 115 0.51 intronic rs2238740 DGCR2 AU NM_001173534 exon6 c.24337-2265G>A 0.181909 0.126 0.189571 0.2150 0.1591 Uncertain 22_19050599_-->CCATGTC 22 19050599 19050599 - CCATGTC indel 7811.73 1/1 99 78 0 78 1.0 intronic rs111427599 DGCR2 AU NM_001173534 exon6 c.24337-115insCCATGTC 0.471046 0.4127 Uncertain 22_19050635_G->A 22 19050635 19050635 G A snp 6030.77 1/1 99 212 0 212 1.0 intronic rs5993488 DGCR2 AU NM_001173534 exon6 c.24337-79G>A 0.430112 0.3442 Uncertain 22_19050878_A->G 22 19050878 19050878 A G snp 1050.77 1/1 78 26 0 26 1.0 intronic rs9617765 DGCR2 AU NM_001173534 exon6 c.24414+87A>G 0.538938 0.4137 Uncertain 22_19076797_C->A 22 19076797 19076797 C A snp 2821.77 0/1 99 246 122 124 0.5 intronic rs73158837 DGCR2 AU NM_001184781 exon9 c.50503-83C>A 0.139377 0.125 Uncertain 22_19076835_A->G 22 19076835 19076835 A G snp 2990.77 0/1 99 250 122 128 0.51 intronic rs148505562 DGCR2 AU NM_001184781 exon9 c.50503-45A>G 0.00339457 0.0139 0.0014 0.0140 Uncertain 22_19077049_C->T 22 19077049 19077049 C T snp 1154.77 1/1 84 38 0 38 1.0 intronic rs2800960 DGCR2 AU NM_001184781 exon9 c.50626+46C>T 0.924121 0.8274 0.935722 0.9137 0.8067 Uncertain 22_19109609_A->C 22 19109609 19109609 A C snp 778.77 1/1 57 30 0 30 1.0 intronic rs62223868 DGCR2 AU NM_001173534 exon9 c.83263-31A>C 0.432508 0.4157 0.4366 0.4181 Uncertain 22_19109747_-->GCTGCGTGACCCC 22 19109747 19109747 - GCTGCGTGACCCC indel 2772.73 0/1 99 47 26 21 0.45 UTR5 rs762051446 DGCR2 AU 0.155889 0 0 Uncertain 22_19109753_A->G 22 19109753 19109753 A G snp 1114.77 1/1 81 40 0 40 1.0 UTR5 rs11550628 DGCR2 AU 0.33746 0.254 0.341937 0.2821 0.2395 Uncertain 22_19109764_A->G 22 19109764 19109764 A G snp 1046.77 1/1 75 38 0 38 1.0 UTR5 rs11550626 DGCR2 AU 0.508586 0.4157 0.370858 0.4661 0.3781 Uncertain 22_19109812_A->G 22 19109812 19109812 A G snp 636.77 1/1 48 19 0 19 1.0 UTR5 rs11550627 DGCR2 AU 0.508986 0.4167 Uncertain 22_19118701_T->C 22 19118701 19118701 T C snp 2276.77 0/1 99 231 135 96 0.42 UTR5;UTR3 rs3747050 TSSK2;DGCR14 UN 0.277556 0.2143 Uncertain 22_19119545_C->T 22 19119545 19119545 C T snp 2468.77 0/1 99 178 83 95 0.53 exonic rs45604134 TSSK2 AU synonymous SNV NM_053006 exon1 c.C633T p.C211C 0.16274 0.125 0.159772 0.1742 0.1339 Uncertain 22_19119686_C->T 22 19119686 19119686 C T snp 2777.77 0/1 99 250 130 120 0.48 exonic rs1052756 TSSK2 AU synonymous SNV NM_053006 exon1 c.C774T p.S258S 0.155351 0.125 0.151469 0.1720 0.1335 Uncertain 22_19119751_C->T 22 19119751 19119751 C T snp 3008.77 0/1 99 249 126 123 0.49 exonic rs1052763 TSSK2 AU nonsynonymous SNV NM_053006 exon1 c.C839T p.T280M 0.277157 0.2133 0.231970 0.2283 0.2107 0.25 T 0.000 P -1.018 T 0.002 T 0.002 T Pathogenic 22_19119938_G->A 22 19119938 19119938 G A snp 3193.69 0/1 99 248 119 129 0.52 exonic rs1052773 TSSK2 AU synonymous SNV NM_053006 exon1 c.G1026A p.R342R 0.215855 0.1448 0.203515 0.1934 0.1529 Uncertain 22_19121872_G->A 22 19121872 19121872 G A snp 1381.77 0/1 99 125 61 64 0.51 exonic rs712965 DGCR14 AU nonsynonymous SNV NM_022719 exon10 c.C1268T p.A423V 0.102835 0.1062 0.094495 0.0737 0.1042 0.35 T 0.955 D -0.987 T 0.002 T 0.004 T Pathogenic 22_19122665_C->T 22 19122665 19122665 C T snp 1449.77 0/1 99 155 84 71 0.46 exonic rs2240111 DGCR14 AU synonymous SNV NM_022719 exon9 c.G1059A p.E353E 0.166134 0.121 0.172382 0.1819 0.1327 Uncertain 22_19125136_G->A 22 19125136 19125136 G A snp 174.77 0/1 99 13 7 6 0.46 intronic rs3765612 DGCR14 AU NM_022719 exon3 c.3237+191G>A 0.188498 0.1429 Uncertain 22_19126631_T->C 22 19126631 19126631 T C snp 473.77 0/1 99 45 27 18 0.4 intronic rs2298273 DGCR14 AU NM_022719 exon5 c.4963-40T>C 0.278155 0.2212 0.223597 0.2625 0.2727 Uncertain 22_19136722_G->A 22 19136722 19136722 G A snp 266.78 1/1 24 8 0 8 1.0 intronic GSC2 AU NM_005315 exon1 c.105+114G>A 0.364417 0.4821 Uncertain 22_19137658_G->A 22 19137658 19137658 G A snp 590.77 1/1 45 22 0 22 1.0 exonic GSC2 AU nonsynonymous SNV NM_005315 exon1 c.C139T p.R47C 0.364816 0.4911 0.7 0.75 0.06 T 0.0 P -1.040 T 0.0 T 0.0 T Pathogenic 22_19163577_-->AT 22 19163577 19163577 - AT indel 2384.73 1/1 99 44 0 44 1.0 UTR3 SLC25A1 AR Uncertain 22_19164835_A->C 22 19164835 19164835 A C snp 417.77 0/1 99 25 11 14 0.56 intronic SLC25A1 AR NM_005984 exon5 c.1075+118A>C 0.217053 0.4077 Uncertain 22_19168087_G->A 22 19168087 19168087 G A snp 80.28 1/1 9 3 0 3 1.0 intronic CLTCL1 AU NM_001835 exon3 c.512-156G>A 0.84345 0.9365 Uncertain 22_19172006_T->C 22 19172006 19172006 T C snp 4908.77 1/1 99 181 0 181 1.0 intronic CLTCL1 AU NM_001835 exon4 c.3393+882T>C 0.84365 0.9365 0.7929 0.9157 Uncertain 22_19184095_T->C 22 19184095 19184095 T C snp 1590.77 0/1 99 145 74 71 0.49 exonic CLTCL1 AU nonsynonymous SNV NM_007098 exon25 c.A3946G p.M1316V 0.403554 0.3075 0.419050 0.4897 0.3168 0.14 T 1.000 P -0.901 T 0.975 D 0.994 D Pathogenic 22_19187375_G->A 22 19187375 19187375 G A snp 1188.77 1/1 87 37 0 37 1.0 intronic CLTCL1 AU NM_001835 exon9 c.19621+23G>A 0.580072 0.6706 0.531105 0.6035 0.7265 Uncertain 22_19187427_C->G 22 19187427 19187427 C G snp 144.77 0/1 99 12 7 5 0.42 intronic CLTCL1 AU NM_001835 exon9 c.19621+75C>G 0.354633 0.2748 Uncertain 22_19187450_G->A 22 19187450 19187450 G A snp 80.77 0/1 61 5 2 3 0.6 intronic CLTCL1 AU NM_001835 exon9 c.19621+98G>A 0.153355 0.3968 Uncertain 22_19187451_C->G 22 19187451 19187451 C G snp 80.77 0/1 61 5 2 3 0.6 intronic CLTCL1 AU NM_001835 exon9 c.19621+99C>G 0.153155 0.3958 Uncertain 22_19189003_-->C 22 19189003 19189003 - C indel 4534.73 1/1 99 109 0 109 1.0 exonic rs11386977 CLTCL1 AU frameshift insertion NM_007098 exon23 c.3601dupG p.V1201fs 0.9998 1 1.0000 1 Pathogenic 22_19196502_G->A 22 19196502 19196502 G A snp 702.77 0/1 99 67 36 31 0.46 exonic CLTCL1 AU synonymous SNV NM_007098 exon21 c.C3372T p.A1124A 0.153155 0.3968 0.062730 0.1216 0.4518 Uncertain 22_19197896_T->C 22 19197896 19197896 T C snp 2985.77 1/1 99 114 0 114 1.0 exonic CLTCL1 AU synonymous SNV NM_007098 exon20 c.A3189G p.A1063A 0.848043 0.9365 0.731632 0.7356 0.9399 Uncertain 22_19211665_C->T 22 19211665 19211665 C T snp 326.77 0/1 99 24 11 13 0.54 intronic CLTCL1 AU NM_001835 exon19 c.43846+88C>T 0.360823 0.2748 Uncertain 22_19217613_C->T 22 19217613 19217613 C T snp 530.77 1/1 42 15 0 15 1.0 intronic CLTCL1 AU NM_001835 exon22 c.49767+115C>T Uncertain 22_19217617_C->T 22 19217617 19217617 C T snp 326.78 1/1 27 9 0 9 1.0 intronic CLTCL1 AU NM_001835 exon22 c.49767+119C>T Uncertain 22_19217621_G->T 22 19217621 19217621 G T snp 220.84 1/1 18 6 0 6 1.0 intronic CLTCL1 AU NM_001835 exon22 c.49767+123G>T Uncertain 22_19220648_G->T 22 19220648 19220648 G T snp 389.77 0/1 99 34 21 13 0.38 intronic CLTCL1 AU NM_001835 exon24 c.52957-40G>T 0.320687 0.2758 0.365254 0.4146 0.2640 Uncertain 22_19279194_G->T 22 19279194 19279194 G T snp 872.77 0/1 99 73 35 38 0.52 UTR5 CLTCL1 AU 0.168131 0.2728 0.128491 0.1997 0.2789 Uncertain 22_19318622_T->C 22 19318622 19318622 T C snp 96.28 1/1 9 4 0 4 1.0 UTR3 HIRA AU 0.953474 0.9812 0.9349 0.9769 Uncertain 22_19365286_T->C 22 19365286 19365286 T C snp 176.9 1/1 15 5 0 5 1.0 intronic rs2285334 HIRA AU NM_003325 exon12 c.46429-105T>C 0.183307 0.3046 Uncertain 22_19393630_A->G 22 19393630 19393630 A G snp 41.77 0/1 70 4 2 2 0.5 intronic rs114573143 HIRA AU NM_003325 exon21 c.74441+227A>G 0.038139 0.0893 Uncertain 22_19419093_A->G 22 19419093 19419093 A G snp 2102.77 1/1 99 69 0 69 1.0 UTR5 rs8140291 HIRA AU 1 1 Uncertain 22_19458412_A->G 22 19458412 19458412 A G snp 918.77 1/1 66 35 0 35 1.0 intronic rs17811336 UFD1L AU NM_005659 exon9 c.21017-797A>G 0.188898 0.3036 Uncertain 22_19462466_C->G 22 19462466 19462466 C G snp 306.78 1/1 24 10 0 10 1.0 intronic rs5746744 UFD1L AU NM_005659 exon10 c.24398-124C>G 0.907947 0.871 Uncertain 22_19466757_-->G 22 19466757 19466757 - G indel 1416.73 1/1 99 55 0 55 1.0 upstream rs11392459 CDC45 AR 0.290136 0.4335 Uncertain 22_19471609_A->G 22 19471609 19471609 A G snp 1615.77 1/1 99 52 0 52 1.0 intronic rs737858 CDC45 AR NM_001178010 exon5 c.4037+81A>G 0.89377 0.871 Uncertain 22_19486600_C->T 22 19486600 19486600 C T snp 3007.77 1/1 99 114 0 114 1.0 intronic rs9618586 CDC45 AR NM_001178010 exon10 c.19132-23C>T 0.402356 0.4365 0.342765 0.2723 0.4283 Uncertain 22_19504470_T->C 22 19504470 19504470 T C snp 7393.77 1/1 99 246 0 246 1.0 intronic rs2073732 CDC45 AR NM_001178010 exon18 c.36925+54T>C 0.655751 0.8294 0.607315 Uncertain 22_19506476_C->T 22 19506476 19506476 C T snp 1832.77 1/1 99 66 0 66 1.0 intronic rs13447289 CDC45 AR NM_001178010 exon19 c.38941+44C>T 0.128994 0.252 0.106259 0.1273 0.2767 Uncertain 22_19511055_C->A 22 19511055 19511055 C A snp 987.77 1/1 72 33 0 33 1.0 UTR3 rs756654 CLDN5 AU 0.174321 0.3016 Uncertain 22_19747082_G->C 22 19747082 19747082 G C snp 2268.77 1/1 99 80 0 80 1.0 UTR5 rs737868 TBX1 AU,AD 0.621406 0.5506 Uncertain 22_19751829_C->T 22 19751829 19751829 C T snp 3111.77 0/1 99 249 116 133 0.53 exonic rs2301558 TBX1 AU,AD synonymous SNV NM_080647 exon5 c.C664T p.L222L 0.341254 0.1171 0.343971 0.2806 0.1179 Uncertain 22_19766782_C->T 22 19766782 19766782 C T snp 2287.77 0/1 99 243 143 100 0.41 intergenic rs4819522 TBX1 AU,AD 0.209265 0.119 0.172459 0.2111 0.1154 0.13 T 0.0 P -1.037 T 0.997 D 0.736 D Uncertain 22_19794366_C->A 22 19794366 19794366 C A snp 2812.77 1/1 99 95 0 95 1.0 intronic rs737860 GNB1L AU NM_053004 exon3 c.18049+86C>A 1 1 Uncertain 22_19808060_C->T 22 19808060 19808060 C T snp 37.77 0/1 66 4 2 2 0.5 intronic rs554963616 GNB1L AU NM_053004 exon5 c.31889-60C>T 0.000199681 Uncertain 22_19868218_A->G 22 19868218 19868218 A G snp 1247.77 0/1 99 108 54 54 0.5 exonic rs1139793 TXNRD2 AU unknown 0.718251 0.623 0.796103 0.7012 0.6030 0.15 T 1.0 P -0.981 T 0.0 T 0.0 T Uncertain 22_19882492_-->A 22 19882492 19882492 - A indel 52.94 1/1 13 6 1 5 0.83 intronic TXNRD2 AU NM_001282512 exon1 c.68-231insA Uncertain 22_19886443_G->A 22 19886443 19886443 G A snp 267.77 0/1 99 24 13 11 0.46 intronic rs76692419 TXNRD2 AU NM_006440 exon10 c.21944-128G>A 0.0405351 0.0575 Uncertain 22_19898837_A->G 22 19898837 19898837 A G snp 2588.77 1/1 99 97 0 97 1.0 intronic rs885987 TXNRD2 AU NM_006440 exon11 c.34272-62A>G 0.751198 0.9157 0.628778 Uncertain 22_19898886_C->T 22 19898886 19898886 C T snp 1056.77 0/1 99 96 50 46 0.48 intronic rs9606176 TXNRD2 AU NM_006440 exon11 c.34272-13C>T 0.171526 0.2391 0.105967 0.1302 0.2250 Uncertain 22_19902526_T->C 22 19902526 19902526 T C snp 65.77 0/1 94 13 10 3 0.23 intronic rs4597638 TXNRD2 AU NM_006440 exon12 c.38109-210T>C 0.166534 0.2421 Uncertain 22_19902896_C->T 22 19902896 19902896 C T snp 1328.77 1/1 99 41 0 41 1.0 intronic rs2073771 TXNRD2 AU NM_006440 exon12 c.38172+97C>T 0.507987 0.8829 Uncertain 22_19905802_G->A 22 19905802 19905802 G A snp 2438.77 1/1 99 84 0 84 1.0 intronic rs756661 TXNRD2 AU NM_006440 exon14 c.41113+62G>A 0.7498 0.9177 0.623960 Uncertain 22_19906306_C->G 22 19906306 19906306 C G snp 600.77 1/1 45 23 0 23 1.0 intronic rs3747067 TXNRD2 AU NM_006440 exon15 c.41755-76C>G 0.697484 0.8968 Uncertain 22_19907099_C->A 22 19907099 19907099 C A snp 3363.77 1/1 99 123 0 123 1.0 exonic rs5748469 TXNRD2 AU unknown 0.483027 0.869 0.295567 0.4445 0.7942 0.11 T 1.000 P -0.955 T 0.997 D 0.99 D Uncertain 22_19907118_G->A 22 19907118 19907118 G A snp 3418.77 1/1 99 120 1 119 0.99 exonic rs5748470 TXNRD2 AU unknown 0.596845 0.881 0.453765 0.5649 0.8092 Uncertain 22_19907192_A->G 22 19907192 19907192 A G snp 2083.77 1/1 99 71 0 71 1.0 intronic rs5748471 TXNRD2 AU NM_006440 exon16 c.42495+70A>G 0.754393 0.9177 0.628997 Uncertain 22_19920949_G->A 22 19920949 19920949 G A snp 1762.77 0/1 99 149 70 79 0.53 intronic rs10483103 TXNRD2 AU NM_006440 exon17 c.53994+2328G>A 0.13778 0.3175 0.0999 0.315 Uncertain 22_19921003_T->C 22 19921003 19921003 T C snp 2719.77 1/1 99 102 1 101 0.99 intronic rs5746847 TXNRD2 AU NM_006440 exon17 c.53994+2382T>C 0.673323 0.7232 0.6455 0.7020 Uncertain 22_19950428_A->G 22 19950428 19950428 A G snp 239.77 0/1 99 26 17 9 0.35 intronic rs2239393 COMT AO,AD NM_001135162 exon3 c.289+90A>G 0.366414 0.3413 Uncertain 22_19951207_C->G 22 19951207 19951207 C G snp 2215.77 0/1 99 250 151 99 0.4 exonic rs4818 COMT AO,AD synonymous SNV NM_000754 exon4 c.C408G p.L136L 0.296925 0.3413 0.327541 0.3392 0.3246 ID=CM970391;DIS=Schizoaffective disorder, association with;TAG=DFP;PUB=9323320 DFP Uncertain 22_19951804_G->A 22 19951804 19951804 G A snp 2931.77 0/1 99 248 133 115 0.46 exonic rs769224 COMT AO,AD synonymous SNV NM_000754 exon5 c.G597A p.P199P 0.0503195 0.0635 0.044518 0.0314 0.0649 1.000 P -0.864 T Likely benign 22_19954917_T->- 22 19954917 19954917 T - indel 1011.73 0/1 99 150 74 76 0.51 intronic rs61143203 COMT AO,AD NM_001135162 exon6 c.6009-1141delT 0.232628 0.4226 0.2782 0.4619 Uncertain 22_19956262_-->C 22 19956262 19956262 - C indel 1067.73 0/1 99 82 22 60 0.73 UTR3 rs362204 COMT AO,AD 0.571885 0.5526 0.6588 0.5369 Uncertain 22_19958669_G->A 22 19958669 19958669 G A snp 2572.77 0/1 99 223 116 107 0.48 intronic rs165849 ARVCF AU 0.473842 0.5308 Uncertain 22_19959366_G->A 22 19959366 19959366 G A snp 1241.77 0/1 99 98 50 48 0.49 intronic rs165824 ARVCF AU NM_001670 exon3 c.658-42G>A 0.781749 0.5615 0.901584 0.8398 0.5440 Uncertain 22_19959473_C->T 22 19959473 19959473 C T snp 1604.77 0/1 99 177 104 73 0.41 exonic rs165815 ARVCF AU nonsynonymous SNV NM_001670 exon18 c.G2717A p.R906Q 0.616813 0.5337 0.735045 0.7512 0.5126 0.453 P -0.986 T 0.01 T 0.001 T ID=CM104111;DIS=Schizophrenia, association with;TAG=DP;PUB=20333729 DP Pathogenic 22_19959955_A->G 22 19959955 19959955 A G snp 2022.77 0/1 99 175 98 77 0.44 intronic rs2073744 ARVCF AU NM_001670 exon4 c.1184+21A>G 0.766573 0.5615 0.880806 0.8343 0.5420 Uncertain 22_19960188_T->C 22 19960188 19960188 T C snp 403.77 0/1 99 38 22 16 0.42 intronic rs2518823 ARVCF AU NM_001670 exon5 c.1509-71T>C 0.776957 0.5615 Uncertain 22_19960606_G->C 22 19960606 19960606 G C snp 528.77 0/1 99 74 52 22 0.3 intronic rs2240715 ARVCF AU NM_001670 exon7 c.1891-35G>C 0.508986 0.4683 0.3957 0.4851 Uncertain 22_19964418_T->G 22 19964418 19964418 T G snp 642.77 0/1 99 52 25 27 0.52 intronic rs2240718 ARVCF AU NM_001670 exon11 c.5496+172T>G 0.84385 0.6141 Uncertain 22_19965204_G->A 22 19965204 19965204 G A snp 158.77 0/1 99 10 4 6 0.6 intronic rs149233497 ARVCF AU NM_001670 exon12 c.6359+95G>A 0.000399361 0.001 Uncertain 22_19967068_G->A 22 19967068 19967068 G A snp 74.77 0/1 69 5 2 3 0.6 intronic rs887204 ARVCF AU NM_001670 exon15 c.8515-197G>A 0.505591 0.5327 Uncertain 22_19969075_A->G 22 19969075 19969075 A G snp 1206.77 0/1 99 109 58 51 0.47 exonic rs2073747 ARVCF AU synonymous SNV NM_001670 exon5 c.T555C p.S185S 0.721446 0.6081 0.807969 0.7375 0.5970 Uncertain 22_20043370_C->T 22 20043370 20043370 C T snp 589.77 0/1 99 36 15 21 0.58 intronic rs174876 TANGO2 AR NM_001283116 exon6 c.19144-95C>T 0.0377396 0.0417 Uncertain 22_20049285_G->A 22 20049285 20049285 G A snp 44.77 0/1 31 3 1 2 0.67 intronic rs2286482 TANGO2 AR NM_001283116 exon7 c.24885+79G>A 0.106629 0.1161 Uncertain 22_20100928_A->C 22 20100928 20100928 A C snp 63.77 0/1 92 86 59 27 0.31 intronic rs758707555 TRMT2A AU NM_001257994 exon4 c.658-26A>C 0.0976 0.0237 Uncertain 22_20104301_T->C 22 20104301 20104301 T C snp 328.77 0/1 99 35 17 18 0.51 intronic rs395446 RANBP1 AU NM_001278639 exon1 c.246+348T>C 0.812899 0.9137 Uncertain 22_20114366_C->T 22 20114366 20114366 C T snp 966.77 0/1 99 75 35 40 0.53 intronic rs184194307 RANBP1 AU NM_002882 exon6 c.9302-108C>T 0.00419329 0.0179 Uncertain 22_20136263_G->A 22 20136263 20136263 G A snp 521.77 0/1 99 50 25 25 0.5 exonic rs175181 LOC388849 AU synonymous SNV NM_001243537 exon6 c.C309T p.Y103Y 0.19369 0.0843 0.3405 0.0829 0.723 P -0.967 T Likely benign 22_20255020_T->C 22 20255020 20255020 T C snp 1356.77 1/1 99 39 0 39 1.0 intronic rs854929 RTN4R AD NM_023004 exon2 c.26360-573T>C 1 1 Uncertain 22_20295420_G->T 22 20295420 20295420 G T snp 344.77 0/1 99 29 14 15 0.52 intergenic rs4425183 RTN4R AD 0.256789 0.2282 Uncertain 22_20295431_A->C 22 20295431 20295431 A C snp 302.77 0/1 99 26 14 12 0.46 intergenic rs28464454 RTN4R AD 0.0626997 0.12 Uncertain 22_20378593_A->G 22 20378593 20378593 A G snp 75.28 1/1 9 5 0 5 1.0 intronic rs2909302 TMEM191B AU NM_001242313 exon2 c.702+44A>G 0.596246 0.6349 0.2980 0.2188 Uncertain 22_20378965_T->C 22 20378965 20378965 T C snp 62.74 1/1 6 6 0 6 1.0 splicing rs55698413 TMEM191B AU NM_001242313 exon4 c.1113+5T>C 0.555112 0.6438 0.0977 0.2727 Pathogenic 22_20379008_G->A 22 20379008 20379008 G A snp 62.74 1/1 6 6 0 6 1.0 intronic rs62218641 TMEM191B AU NM_001242313 exon4 c.1113+48G>A 0.4483 0.6364 Uncertain 22_20385650_G->A 22 20385650 20385650 G A snp 40.74 1/1 6 4 0 4 1.0 ncRNA_intronic rs2930765 PI4KAP1 AU Uncertain 22_20385706_G->T 22 20385706 20385706 G T snp 410.77 1/1 33 31 0 31 1.0 ncRNA_intronic rs79640249 PI4KAP1 AU Uncertain 22_20385740_TGTC->- 22 20385740 20385743 TGTC - indel 1517.73 1/1 66 22 0 22 1.0 ncRNA_exonic rs146242498 PI4KAP1 AU 0.646765 0.5645 Uncertain 22_20385845_A->T 22 20385845 20385845 A T snp 192.8 1/1 21 21 0 21 1.0 ncRNA_intronic rs200418297 PI4KAP1 AU 0.642772 0.6498 Uncertain 22_20394502_C->T 22 20394502 20394502 C T snp 181.77 0/1 99 29 15 14 0.48 ncRNA_intronic rs457744 PI4KAP1 AU 0.478634 0.4444 Uncertain 22_20394526_C->T 22 20394526 20394526 C T snp 175.77 0/1 99 33 18 15 0.45 ncRNA_exonic rs457751 PI4KAP1 AU 0.48143 0.4484 Uncertain 22_20721058_C->T 22 20721058 20721058 C T snp 182.77 0/1 99 163 140 23 0.14 intergenic rs71312755 RIMBP3 AU 0.0078 0.0028 Uncertain 22_20743718_T->G 22 20743718 20743718 T G snp 197.77 0/1 94 9 3 6 0.67 intergenic rs2041970 RIMBP3 AU 0.0740815 0.0476 Uncertain 22_20743771_C->T 22 20743771 20743771 C T snp 558.77 0/1 99 53 35 18 0.34 intergenic rs361766 RIMBP3 AU 0.324481 0.4464 Uncertain 22_20745201_A->G 22 20745201 20745201 A G snp 360.77 0/1 99 57 40 17 0.3 intergenic rs362125 RIMBP3 AU 0.324281 0.4464 Uncertain 22_20745206_-->AT 22 20745206 20745206 - AT indel 1583.73 0/1 99 52 15 37 0.71 intergenic rs10683060 RIMBP3 AU 0.173522 0.0486 Uncertain 22_20755098_A->G 22 20755098 20755098 A G snp 2162.77 0/1 99 181 82 99 0.55 intronic rs1990249 ZNF74 AU NM_001256523 exon2 c.6130+50A>G 0.628594 0.5565 0.636551 0.5993 0.5591 Uncertain 22_20755226_A->G 22 20755226 20755226 A G snp 141.77 0/1 99 14 9 5 0.36 intronic rs4581986 ZNF74 AU NM_001256523 exon2 c.6130+178A>G 0.348243 0.0982 Uncertain 22_20755241_G->A 22 20755241 20755241 G A snp 69.77 0/1 98 6 3 3 0.5 intronic rs4599229 ZNF74 AU NM_001256523 exon2 c.6130+193G>A 0.204473 0.0486 Uncertain 22_20759534_A->G 22 20759534 20759534 A G snp 278.77 0/1 99 22 11 11 0.5 intronic rs5761555 ZNF74 AU NM_001256523 exon4 c.10748-132A>G 0.633586 0.5595 Uncertain 22_20761384_C->A 22 20761384 20761384 C A snp 197.77 0/1 99 22 15 7 0.32 UTR3 rs4020 ZNF74 AU 0.679912 0.5446 Uncertain 22_20779604_T->G 22 20779604 20779604 T G snp 433.77 0/1 79 21 3 18 0.86 UTR3 rs7286419 SCARF2 AR 0.534944 0.3313 Uncertain 22_20779768_G->C 22 20779768 20779768 G C snp 604.77 0/1 99 64 39 25 0.39 exonic rs874101 SCARF2 AR nonsynonymous SNV NM_153334 exon12 c.C2509G p.R837G 0.534545 0.3304 0.653903 0.5814 0.3594 0.36 T 0.0 P -0.943 T 0.0 T 0.001 T Pathogenic 22_20779946_C->G 22 20779946 20779946 C G snp 1184.77 1/1 84 41 0 41 1.0 exonic rs759612 SCARF2 AR synonymous SNV NM_153334 exon12 c.G2331C p.T777T 1 1 1 1 1 T 0.000 P -0.988 T 0.0 T 0.0 T Likely benign 22_20779947_G->C 22 20779947 20779947 G C snp 1169.77 1/1 84 40 0 40 1.0 exonic rs759611 SCARF2 AR nonsynonymous SNV NM_153334 exon12 c.C2330G p.T777R 1 1 1 1 1 T 0.000 P -0.946 T 0.0 T 0.0 T Pathogenic 22_20779973_-->G 22 20779973 20779973 - G indel 1705.73 1/1 99 44 0 44 1.0 exonic rs5844418 SCARF2 AR frameshift insertion NM_153334 exon12 c.2303dupC p.P768fs 1 1 0.991211 1 . Pathogenic 22_20780024_-->C 22 20780024 20780024 - C indel 2805.73 1/1 99 68 0 68 1.0 exonic rs5844420 SCARF2 AR frameshift insertion NM_153334 exon12 c.2252dupG p.R751fs 1 1 0.934659 0 . Pathogenic 22_20780029_-->C 22 20780029 20780029 - C indel 2415.73 1/1 99 64 0 64 1.0 exonic;splicing rs5844422 SCARF2;SCARF2 UN frameshift insertion NM_153334 exon12 c.2247dupG p.P750fs 1 1 0.954082 0.25 0 Pathogenic 22_20780031_G->C 22 20780031 20780031 G C snp 1966.77 1/1 99 67 0 67 1.0 splicing rs2329378 SCARF2 AR NM_153334 exon2 c.367G>C 1 1 1 . Pathogenic 22_20780091_C->G 22 20780091 20780091 C G snp 3702.77 1/1 99 149 5 144 0.97 exonic rs759610 SCARF2 AR synonymous SNV NM_153334 exon11 c.G2187C p.P729P 0.980782 0.9999 0.9996 Uncertain 22_20780097_G->C 22 20780097 20780097 G C snp 3705.77 1/1 99 155 5 150 0.97 exonic rs759609 SCARF2 AR synonymous SNV NM_153334 exon11 c.C2181G p.R727R 0.968744 0.9998 0.9998 Uncertain 22_20783485_C->A 22 20783485 20783485 C A snp 2792.77 0/1 99 248 140 108 0.44 intronic rs5997411 SCARF2 AR NM_153334 exon4 c.3847-26C>A 0.224241 0.253 0.194372 0.1970 0.2265 Uncertain 22_20783721_C->T 22 20783721 20783721 C T snp 83.77 0/1 30 4 1 3 0.75 intronic rs8137004 SCARF2 AR NM_153334 exon4 c.3978+79C>T 0.0800719 0.0437 Uncertain 22_20791821_G->A 22 20791821 20791821 G A snp 314.77 0/1 99 24 12 12 0.5 intronic rs9619753 SCARF2 AR NM_153334 exon12 c.12204-47G>A 0.331869 0.2956 0.235439 0.3376 0.3197 Uncertain 22_20811930_C->A 22 20811930 20811930 C A snp 342.78 1/1 27 11 0 11 1.0 intronic rs362087 KLHL22 AU NM_032775 exon3 c.15735-164C>A 0.642173 0.5446 Uncertain 22_20843885_T->G 22 20843885 20843885 T G snp 305.78 1/1 24 9 0 9 1.0 intronic rs165613 KLHL22 AU NM_032775 exon6 c.47172+354T>G 0.85024 0.5446 Uncertain 22_20862646_T->G 22 20862646 20862646 T G snp 5603.77 1/1 99 217 0 217 1.0 UTR5 rs5750324 MED15 AU 0.452476 0.4573 0.5372 0.4938 Uncertain 22_20891259_C->A 22 20891259 20891259 C A snp 136.03 1/1 12 4 0 4 1.0 intronic rs2269830 MED15 AU NM_001003891 exon2 c.29438-144C>A 0.507188 0.4345 Uncertain 22_20891545_A->G 22 20891545 20891545 A G snp 1090.77 1/1 78 40 0 40 1.0 intronic rs4821915 MED15 AU NM_001003891 exon2 c.29526+54A>G 0.861022 0.8323 0.852168 0.8249 0.8385 Uncertain 22_20891568_G->A 22 20891568 20891568 G A snp 878.77 1/1 66 32 0 32 1.0 intronic rs2269831 MED15 AU NM_001003891 exon2 c.29526+77G>A 0.576677 0.4355 Uncertain 22_20929286_C->G 22 20929286 20929286 C G snp 490.77 0/1 99 43 24 19 0.44 intronic rs165842 MED15 AU NM_001003891 exon9 c.67434-113C>G 0.451278 0.5387 Uncertain 22_20938772_T->C 22 20938772 20938772 T C snp 1065.77 0/1 99 74 28 46 0.62 intronic rs1572878 MED15 AU NM_001003891 exon14 c.76747+60T>C 0.127396 0.3869 0.050153 Uncertain 22_20938775_T->C 22 20938775 20938775 T C snp 2039.77 1/1 99 73 0 73 1.0 intronic rs165747 MED15 AU NM_001003891 exon14 c.76747+63T>C 0.560304 0.88 0.447000 Uncertain 22_20939353_G->A 22 20939353 20939353 G A snp 516.77 0/1 99 88 62 26 0.3 intronic rs756194836 MED15 AU NM_001003891 exon16 c.77422-34G>A 6.627e-05 0.0003 Uncertain 22_20939608_C->A 22 20939608 20939608 C A snp 1931.77 0/1 99 172 88 84 0.49 intronic rs2285698 MED15 AU NM_001003891 exon16 c.77589+54C>A 0.124002 0.371 Uncertain 22_20940046_G->A 22 20940046 20940046 G A snp 3358.77 0/1 99 232 96 136 0.59 exonic rs201018718 MED15 AU synonymous SNV NM_001293236 exon15 c.G1830A p.L610L 0.000998403 0.005 0.0003 0.0042 Uncertain 22_20940085_G->A 22 20940085 20940085 G A snp 2002.77 0/1 99 217 124 93 0.43 exonic rs2285699 MED15 AU synonymous SNV NM_001293236 exon15 c.G1869A p.P623P 0.120008 0.371 0.044518 0.0912 0.3901 Uncertain 22_20940208_T->C 22 20940208 20940208 T C snp 297.77 0/1 99 23 13 10 0.43 intronic rs165615 MED15 AU NM_001003891 exon17 c.78148+95T>C 0.45627 0.5198 Uncertain 22_21034809_G->A 22 21034809 21034809 G A snp 346.77 0/1 99 27 13 14 0.52 intergenic rs28668558 MED15 AU 0.946885 0.997 Uncertain 22_21034817_A->C 22 21034817 21034817 A C snp 249.77 0/1 99 30 16 14 0.47 intergenic rs574444991 MED15 AU 0.000599042 0.003 Uncertain 22_21065171_G->C 22 21065171 21065171 G C snp 33.77 0/1 62 7 5 2 0.29 intronic rs764270177 PI4KA AR NM_058004 exon4 c.2812+25G>C 0.0047 0.0682 Uncertain 22_21067659_G->A 22 21067659 21067659 G A snp 293.77 0/1 99 21 11 10 0.48 exonic rs2227856 PI4KA AR synonymous SNV NM_058004 exon48 c.C5481T p.D1827D 0.0183706 0.0337 0.000770 0.0314 0.0871 Uncertain 22_21081964_C->T 22 21081964 21081964 C T snp 1442.77 1/1 99 57 0 57 1.0 intronic rs4820583 PI4KA AR NM_058004 exon16 c.19727-97C>T 0.986022 1 Uncertain 22_21213380_C->T 22 21213380 21213380 C T snp 5831.77 1/1 99 214 1 213 1.0 UTR5 rs1061063 SNAP29 AR 0.463858 0.373 0.481993 0.5473 0.4213 Uncertain 22_21213416_A->G 22 21213416 21213416 A G snp 7233.77 1/1 99 250 0 250 1.0 exonic rs1061064 SNAP29 AR synonymous SNV NM_004782 exon1 c.A18G p.K6K 0.403554 0.372 0.416550 0.5358 0.4233 Uncertain 22_21311531_C->T 22 21311531 21311531 C T snp 1381.77 1/1 99 54 0 54 1.0 ncRNA_exonic rs81027 LOC101928891 AU 0.797524 0.9127 Uncertain 22_21311721_T->G 22 21311721 21311721 T G snp 3373.77 1/1 99 116 0 116 1.0 ncRNA_exonic rs178251 LOC101928891 AU 0.797524 0.9127 Uncertain 22_21322326_C->- 22 21322326 21322326 C - indel 3886.73 1/1 99 154 6 148 0.96 intronic rs11334069 AIFM3 AU NM_001146288 exon2 c.31+63delC 0.974641 1 Uncertain 22_21322351_T->C 22 21322351 21322351 T C snp 3527.77 1/1 99 106 0 106 1.0 intronic rs178254 AIFM3 AU NM_001146288 exon2 c.31+88T>C 1 1 Uncertain 22_21322376_T->G 22 21322376 21322376 T G snp 1606.77 1/1 99 46 0 46 1.0 intronic rs74610147 AIFM3 AU NM_001146288 exon2 c.31+113T>G 1 1 Uncertain 22_21322377_C->G 22 21322377 21322377 C G snp 1539.77 1/1 99 44 0 44 1.0 intronic rs75810376 AIFM3 AU NM_001146288 exon2 c.31+114C>G 1 1 Uncertain 22_21322380_A->G 22 21322380 21322380 A G snp 1459.77 1/1 99 44 0 44 1.0 intronic rs71317868 AIFM3 AU NM_001146288 exon2 c.31+117A>G 1 1 Uncertain 22_21322383_A->G 22 21322383 21322383 A G snp 1497.77 1/1 99 44 0 44 1.0 intronic rs432390 AIFM3 AU NM_001146288 exon2 c.31+120A>G 1 1 Uncertain 22_21327415_G->A 22 21327415 21327415 G A snp 46.78 0/1 27 3 1 2 0.67 intronic rs178262 AIFM3 AU NM_001146288 exon3 c.5345-162G>A 0.218251 0.4306 Uncertain 22_21327503_G->C 22 21327503 21327503 G C snp 198.77 0/1 99 19 12 7 0.37 intronic rs178263 AIFM3 AU NM_001146288 exon3 c.5345-74G>C 0.21905 0.4306 Uncertain 22_21327589_C->T 22 21327589 21327589 C T snp 790.77 0/1 99 62 29 33 0.53 exonic rs178264 AIFM3 AU nonsynonymous SNV NM_001146288 exon3 c.C43T p.P15S 0.218051 0.4306 0.129930 0.2640 0.5374 0.34 T 0.000 P -0.904 T 0.0 T 0.0 T Pathogenic 22_21327834_C->G 22 21327834 21327834 C G snp 1279.77 1/1 93 42 0 42 1.0 intronic rs178265 AIFM3 AU NM_001146288 exon3 c.5577+25C>G 0.941094 0.999 0.948191 0.9619 0.9993 Uncertain 22_21329123_A->G 22 21329123 21329123 A G snp 161.77 0/1 99 9 3 6 0.67 intronic rs733455 AIFM3 AU NM_001146288 exon8 c.6873+18A>G 0.595447 0.494 0.697370 0.7515 0.5130 Uncertain 22_21330179_A->G 22 21330179 21330179 A G snp 412.77 0/1 99 61 41 20 0.33 intronic rs178267 AIFM3 AU NM_001146288 exon9 c.7835+112A>G 0.313299 0.5377 Uncertain 22_21331043_A->T 22 21331043 21331043 A T snp 4111.77 1/1 99 143 0 143 1.0 exonic rs178269 AIFM3 AU synonymous SNV NM_001018060 exon12 c.A1134T p.R378R 1 1 1 1 Uncertain 22_21331918_C->G 22 21331918 21331918 C G snp 1157.77 1/1 87 35 0 35 1.0 intronic rs178275 AIFM3 AU NM_001146288 exon15 c.9756-70C>G 0.348043 0.5466 Uncertain 22_21331950_C->G 22 21331950 21331950 C G snp 2099.77 1/1 99 75 0 75 1.0 intronic rs178276 AIFM3 AU NM_001146288 exon15 c.9756-38C>G 0.98762 0.9544 0.996924 0.9935 0.9555 Uncertain 22_21332122_G->A 22 21332122 21332122 G A snp 6521.77 1/1 99 235 0 235 1.0 intronic rs178277 AIFM3 AU NM_001146288 exon16 c.9944-54G>A 0.347244 0.5446 0.361586 Uncertain 22_21332394_-->TG 22 21332394 21332394 - TG indel 696.73 1/1 45 20 0 20 1.0 intronic rs10646980 AIFM3 AU NM_001146288 exon16 c.10062+100insTG 0.845248 0.9544 Uncertain 22_21334924_G->C 22 21334924 21334924 G C snp 1902.77 1/1 99 64 0 64 1.0 intronic rs105034 AIFM3 AU NM_144704 exon20 c.12803-111G>C 0.342652 0.5407 Uncertain 22_21335259_C->A 22 21335259 21335259 C A snp 5068.77 1/1 99 186 0 186 1.0 intronic rs178278 AIFM3 AU NM_001146288 exon20 c.13048-21C>A 0.340256 0.5377 0.343995 0.3930 0.5304 Uncertain 22_21337266_G->A 22 21337266 21337266 G A snp 1157.77 1/1 84 41 0 41 1.0 intronic rs178280 LZTR1 AD NM_006767 exon2 c.655-49G>A 0.357428 0.5397 0.372136 0.4203 0.5327 Uncertain 22_21337415_C->G 22 21337415 21337415 C G snp 2410.77 1/1 99 88 0 88 1.0 intronic rs178281 LZTR1 AD NM_006767 exon2 c.718+37C>G 1 1 1 1 Uncertain 22_21342169_G->C 22 21342169 21342169 G C snp 285.77 0/1 99 24 12 12 0.5 intronic rs178289 LZTR1 AD NM_006767 exon5 c.5638-129G>C 0.551118 0.7202 Uncertain 22_21344026_C->A 22 21344026 21344026 C A snp 268.77 0/1 99 27 12 15 0.56 intronic rs7410547 LZTR1 AD NM_006767 exon7 c.7311+55C>A Uncertain 22_21344032_C->T 22 21344032 21344032 C T snp 414.77 0/1 87 23 6 17 0.74 intronic rs7410559 LZTR1 AD NM_006767 exon7 c.7311+61C>T Uncertain 22_21344055_A->G 22 21344055 21344055 A G snp 184.77 0/1 99 10 4 6 0.6 intronic rs5752397 LZTR1 AD NM_006767 exon7 c.7311+84A>G 0.0523163 0.1528 Uncertain 22_21344592_A->C 22 21344592 21344592 A C snp 141.77 0/1 99 9 4 5 0.56 intronic rs55660821 LZTR1 AD NM_006767 exon8 c.8014-82A>C 0.428714 0.3323 Uncertain 22_21344905_A->G 22 21344905 21344905 A G snp 1607.77 1/1 99 53 0 53 1.0 intronic rs178290 LZTR1 AD NM_006767 exon8 c.8154+91A>G 0.712061 0.7351 Uncertain 22_21344920_G->C 22 21344920 21344920 G C snp 478.77 0/1 99 41 22 19 0.46 intronic rs17820542 LZTR1 AD NM_006767 exon8 c.8154+106G>C 0.413738 0.3185 Uncertain 22_21346485_T->C 22 21346485 21346485 T C snp 192.77 0/1 99 14 7 7 0.5 intronic rs112544 LZTR1 AD NM_006767 exon10 c.9842-17T>C 0.64397 0.5694 0.731201 0.7070 0.5704 Uncertain 22_21346719_A->C 22 21346719 21346719 A C snp 5712.77 1/1 99 214 0 214 1.0 intronic rs756876 LZTR1 AD NM_006767 exon10 c.9998+61A>C 0.591653 0.5863 Uncertain 22_21347029_G->A 22 21347029 21347029 G A snp 585.77 0/1 99 56 29 27 0.48 intronic rs5761738 LZTR1 AD NM_006767 exon11 c.10422-53G>A 0.0537141 0.1617 Uncertain 22_21347349_G->A 22 21347349 21347349 G A snp 541.77 0/1 99 25 8 17 0.68 intronic rs739521 LZTR1 AD NM_006767 exon11 c.10533+156G>A 0.0527157 0.1617 Uncertain 22_21348084_T->C 22 21348084 21348084 T C snp 2542.77 1/1 99 78 0 78 1.0 intronic rs178291 LZTR1 AD NM_006767 exon12 c.11383+41T>C 0.743011 0.7292 0.779889 0.7534 0.7588 Uncertain 22_21348101_G->A 22 21348101 21348101 G A snp 559.77 0/1 99 58 35 23 0.4 intronic rs2329636 LZTR1 AD NM_006767 exon12 c.11383+58G>A 0.0509185 0.1558 Uncertain 22_21348914_C->T 22 21348914 21348914 C T snp 1862.77 0/1 99 135 54 81 0.6 exonic rs4822790 LZTR1 AD synonymous SNV NM_006767 exon15 c.C1683T p.R561R 0.16893 0.2262 0.139496 0.1408 0.2202 Uncertain 22_21349037_A->G 22 21349037 21349037 A G snp 4470.77 1/1 99 148 1 147 0.99 intronic rs178292 LZTR1 AD NM_006767 exon15 c.12356+21A>G 0.752196 0.7004 0.803077 0.7544 0.7275 Uncertain 22_21349480_A->G 22 21349480 21349480 A G snp 985.77 0/1 99 55 23 32 0.58 intronic rs5761754 LZTR1 AD NM_006767 exon16 c.12655+165A>G 0.0517173 0.1587 Uncertain 22_21349548_A->G 22 21349548 21349548 A G snp 1870.77 0/1 99 171 90 81 0.47 intronic rs5752415 LZTR1 AD NM_006767 exon16 c.12655+233A>G 0.0515176 0.1587 Uncertain 22_21350461_A->G 22 21350461 21350461 A G snp 721.84 1/1 18 21 1 20 0.95 intronic rs178294 LZTR1 AD NM_006767 exon18 c.13741+60A>G 0.754393 0.6994 Uncertain 22_21351714_C->G 22 21351714 21351714 C G snp 499.77 0/1 99 23 8 15 0.65 UTR3 rs116921548 LZTR1 AD 0.0511182 0.1558 Uncertain 22_21354166_C->T 22 21354166 21354166 C T snp 1356.77 0/1 99 89 34 55 0.62 UTR3 rs375031070 THAP7 AU 0.000399361 0.000462 0.0001 0 Uncertain 22_21354970_C->G 22 21354970 21354970 C G snp 5880.77 1/1 99 231 2 229 0.99 exonic rs426938 THAP7 AU nonsynonymous SNV NM_030573 exon3 c.G343C p.A115P 0.854633 0.8591 0.854682 0.8394 0.8442 0.69 T 0.0 P -0.977 T 0.0 T 0.0 T Pathogenic 22_21356029_T->C 22 21356029 21356029 T C snp 1863.77 0/1 99 144 64 80 0.56 intronic rs2075269 THAP7 AU NM_030573 exon4 c.1952-91T>C 0.294928 0.2639 Uncertain 22_21356538_A->T 22 21356538 21356538 A T snp 2438.77 1/1 99 81 0 81 1.0 ncRNA_exonic rs368989 THAP7-AS1 AU 0.894569 0.8621 Uncertain 22_21356566_A->G 22 21356566 21356566 A G snp 585.77 0/1 99 44 21 23 0.52 ncRNA_exonic rs369250 THAP7-AS1 AU 0.494808 0.5456 Uncertain 22_21356824_G->A 22 21356824 21356824 G A snp 750.77 0/1 99 81 41 40 0.49 ncRNA_exonic rs28372939 THAP7-AS1 AU 0.272764 0.2639 0.2678 0.205 Uncertain 22_21356893_AGAC->- 22 21356893 21356896 AGAC - indel 1190.73 0/1 99 41 19 22 0.54 ncRNA_exonic rs59698086 THAP7-AS1 AU 0.272963 0.2659 0.2639 0.2071 Uncertain 22_21356925_T->A 22 21356925 21356925 T A snp 300.77 0/1 99 17 6 11 0.65 ncRNA_exonic rs9625292 THAP7-AS1 AU 0.303714 0.2639 0.2742 0.2194 Uncertain 22_21372374_G->A 22 21372374 21372374 G A snp 2578.77 0/1 99 247 140 107 0.43 intronic rs55763104 P2RX6 AU NM_005446 exon3 c.2886+25G>A 0.240016 0.256 0.209288 0.1929 0.2673 Uncertain 22_21372405_G->T 22 21372405 21372405 G T snp 6966.77 1/1 99 246 0 246 1.0 intronic rs2073598 P2RX6 AU NM_005446 exon3 c.2886+56G>T 0.784345 0.7163 0.869470 Uncertain 22_21372467_C->G 22 21372467 21372467 C G snp 2694.77 0/1 99 157 58 99 0.63 intronic rs2073599 P2RX6 AU NM_005446 exon3 c.2886+118C>G 0.458267 0.4425 Uncertain 22_21377301_C->A 22 21377301 21377301 C A snp 6716.77 1/1 99 237 1 236 1.0 exonic rs1548411 P2RX6 AU synonymous SNV NM_001159554 exon5 c.C456A p.P152P 0.630391 0.6349 0.593572 0.5608 0.6385 Uncertain 22_21377953_C->T 22 21377953 21377953 C T snp 452.77 1/1 36 16 0 16 1.0 intronic rs9625356 P2RX6 AU NM_005446 exon8 c.8444+46C>T 0.0974441 0.3214 0.016443 0.0378 0.3351 Uncertain 22_21377958_A->C 22 21377958 21377958 A C snp 544.77 1/1 42 16 0 16 1.0 intronic rs929671 P2RX6 AU NM_005446 exon8 c.8444+51A>C 0.807508 0.9544 0.692794 Uncertain 22_21385277_C->T 22 21385277 21385277 C T snp 7221.77 1/1 99 250 0 250 1.0 exonic rs76136208 SLC7A4 AU synonymous SNV NM_004173 exon2 c.G825A p.S275S 0.0992412 0.3125 0.022455 0.0564 0.3181 Uncertain 22_21385843_G->A 22 21385843 21385843 G A snp 6554.77 1/1 99 242 0 242 1.0 exonic rs2072549 SLC7A4 AU synonymous SNV NM_004173 exon2 c.C259T p.L87L 0.208666 0.3294 0.188528 0.2086 0.3306 Uncertain 22_21388605_T->C 22 21388605 21388605 T C snp 1161.77 1/1 87 32 0 32 1.0 upstream rs2541956 MIR649 AU 0.859026 0.9554 0.739159 0.7587 0.9539 Uncertain 22_21403549_G->A 22 21403549 21403549 G A snp 66.77 0/1 95 8 5 3 0.38 intronic LRRC74B AU NM_001291006 exon4 c.3171+103G>A Uncertain 22_21407523_G->C 22 21407523 21407523 G C snp 749.77 1/1 57 22 0 22 1.0 intronic rs59112939 LRRC74B AU NM_001291006 exon6 c.7373-125G>C 0.142372 0.3105 Uncertain 22_21411598_T->C 22 21411598 21411598 T C snp 599.77 1/1 45 16 0 16 1.0 intronic rs46148 LRRC74B AU NM_001291006 exon8 c.11214+109T>C 0.945487 0.9871 Uncertain 22_21576361_T->C 22 21576361 21576361 T C snp 311.77 1/1 30 81 0 81 1.0 intergenic rs200542750 FAM230B AU 0.809704 0.9484 0.0853 0.3958 Uncertain 22_21724377_G->A 22 21724377 21724377 G A snp 244.8 1/1 21 13 0 13 1.0 intergenic rs2845497 POM121L8P AU 0.895767 0.8938 Uncertain 22_21724423_C->T 22 21724423 21724423 C T snp 73.28 1/1 9 4 0 4 1.0 intergenic rs78616296 POM121L8P AU 0.855032 0.8423 Uncertain 22_21724432_T->C 22 21724432 21724432 T C snp 73.28 1/1 9 4 0 4 1.0 intergenic rs77052488 POM121L8P AU Uncertain 22_21724452_A->G 22 21724452 21724452 A G snp 31.74 1/1 6 3 0 3 1.0 intergenic rs80346822 POM121L8P AU Uncertain 22_21797094_C->G 22 21797094 21797094 C G snp 409.03 1/1 12 31 2 29 0.94 UTR5 rs486362 HIC2 AU 0.929313 0.9117 0.9406 0.9439 Uncertain 22_21800042_T->C 22 21800042 21800042 T C snp 3566.77 1/1 99 131 0 131 1.0 exonic rs467181 HIC2 AU synonymous SNV NM_015094 exon3 c.T858C p.A286A 0.940495 0.9375 0.996063 0.9683 0.9476 Uncertain 22_21800444_T->C 22 21800444 21800444 T C snp 5292.77 1/1 99 191 0 191 1.0 exonic rs128477 HIC2 AU synonymous SNV NM_015094 exon3 c.T1260C p.H420H 0.94349 0.9345 0.995603 0.9710 0.9434 Uncertain 22_21822001_A->G 22 21822001 21822001 A G snp 108.03 1/1 12 4 0 4 1.0 intronic rs183213118 TMEM191C AU NM_001207052 exon1 c.296+98A>G 0.1083 0.1765 Uncertain 22_21822725_T->C 22 21822725 21822725 T C snp 271.8 1/1 21 12 0 12 1.0 splicing rs430214 TMEM191C AU NM_001207052 exon4 c.1113+5T>C 0.766773 0.8929 0.7126 0.8214 Pathogenic 22_21822744_G->C 22 21822744 21822744 G C snp 98.28 1/1 9 7 0 7 1.0 intronic rs395295 TMEM191C AU NM_001207052 exon4 c.1113+24G>C 0.9119 0.8969 Uncertain 22_21829480_G->T 22 21829480 21829480 G T snp 190.77 0/1 99 98 76 22 0.22 ncRNA_intronic rs402694 PI4KAP2 AU 0.680112 0.4921 0.5944 0.2799 Uncertain 22_21829507_G->A 22 21829507 21829507 G A snp 211.77 0/1 99 124 96 28 0.23 ncRNA_intronic rs402724 PI4KAP2 AU 0.3101 0.1048 Uncertain 22_21830934_G->A 22 21830934 21830934 G A snp 303.77 0/1 99 37 21 16 0.43 ncRNA_exonic rs469205 PI4KAP2 AU 0.1667 . Uncertain 22_21832031_A->G 22 21832031 21832031 A G snp 212.77 0/1 99 44 23 21 0.48 ncRNA_intronic rs369670 PI4KAP2 AU 0.574081 0.4871 0.475 0.75 Uncertain 22_21832041_G->A 22 21832041 21832041 G A snp 264.77 0/1 99 48 25 23 0.48 ncRNA_intronic rs421064 PI4KAP2 AU 0.574681 0.4871 0.6742 0.6379 Uncertain 22_21837221_T->C 22 21837221 21837221 T C snp 137.9 1/1 15 8 0 8 1.0 ncRNA_intronic rs183606830 PI4KAP2 AU 0.76857 0.6518 Uncertain 22_21837250_G->A 22 21837250 21837250 G A snp 178.77 0/1 99 19 5 14 0.74 ncRNA_intronic rs528798828 PI4KAP2 AU 0.205272 0.4058 Uncertain 22_21837429_G->A 22 21837429 21837429 G A snp 74.77 0/1 99 9 5 4 0.44 ncRNA_intronic rs537128537 PI4KAP2 AU 0.215855 0.3849 0.0169 0.1469 Uncertain 22_21842655_C->T 22 21842655 21842655 C T snp 206.77 0/1 99 99 52 47 0.47 ncRNA_exonic rs455312 PI4KAP2 AU 0.686102 0.5 0.8537 0.625 Uncertain 22_21842813_C->T 22 21842813 21842813 C T snp 54.81 0/1 20 4 1 3 0.75 ncRNA_intronic rs116999122 PI4KAP2 AU 0.573882 0.501 Uncertain 22_21846328_GC->- 22 21846328 21846329 GC - indel 214.73 0/1 99 18 10 8 0.44 ncRNA_exonic rs367705001 PI4KAP2 AU Uncertain 22_21947467_C->G 22 21947467 21947467 C G snp 303.77 0/1 99 19 9 10 0.53 intronic rs2266963 UBE2L3 AU NM_001256355 exon2 c.43507+222C>G 0.229633 0.4137 Uncertain 22_21982892_C->T 22 21982892 21982892 C T snp 908.77 0/1 99 111 65 46 0.41 exonic rs2298428 YDJC AU nonsynonymous SNV NM_001017964 exon5 c.G787A p.A263T 0.22484 0.4117 0.139125 0.3007 0.4546 0.59 T 1.0 P -0.912 T 0.884 T 0.289 P ID=CM1211349;DIS=Psoriasis susceptibility, association with;TAG=DP;PUB=23143594 DP Pathogenic 22_21983260_A->G 22 21983260 21983260 A G snp 1374.77 0/1 99 93 31 62 0.67 intronic rs2298429 YDJC AU NM_001017964 exon2 c.592-38A>G 0.416134 0.5109 0.233070 0.4587 0.6071 Uncertain 22_21984205_A->G 22 21984205 21984205 A G snp 415.77 0/1 99 27 9 18 0.67 exonic rs710177 YDJC AU synonymous SNV NM_001017964 exon1 c.T99C p.A33A 0.459465 0.5109 0.378311 0.4843 0.5359 Uncertain 22_22007143_G->A 22 22007143 22007143 G A snp 176.9 1/1 15 6 0 6 1.0 upstream rs395006 MIR130B AU 0.944489 0.8671 Uncertain 22_22007370_T->C 22 22007370 22007370 T C snp 2523.77 1/1 99 100 0 100 1.0 upstream;downstream rs372150 MIR130B;MIR301B UN 0.82508 0.8661 0.819250 0.8334 0.8684 Uncertain 22_22007426_C->T 22 22007426 22007426 C T snp 2051.77 1/1 99 72 0 72 1.0 upstream;downstream rs373001 MIR130B;MIR301B UN 0.463858 0.7798 Uncertain 22_22024150_C->T 22 22024150 22024150 C T snp 1212.77 0/1 99 106 53 53 0.5 intronic rs2247115 PPIL2 AU NM_014337 exon2 c.3813-51C>T 0.250799 0.2966 0.226602 Uncertain 22_22024507_G->A 22 22024507 22024507 G A snp 337.78 1/1 27 10 0 10 1.0 intronic rs402225 PPIL2 AU NM_014337 exon2 c.3863+256G>A 0.94389 0.8512 Uncertain 22_22024907_G->A 22 22024907 22024907 G A snp 2365.77 0/1 99 223 112 111 0.5 intronic PPIL2 AU NM_014337 exon3 c.4512+7G>A Uncertain 22_22029554_C->T 22 22029554 22029554 C T snp 40.77 0/1 69 5 3 2 0.4 intronic rs1647708 PPIL2 AU NM_014337 exon6 c.9016+150C>T 0.265974 0.2966 Uncertain 22_22036832_T->C 22 22036832 22036832 T C snp 4497.77 1/1 99 161 0 161 1.0 intronic rs1669112 PPIL2 AU NM_014337 exon8 c.16427+17T>C 0.528155 0.3849 0.575888 0.5752 0.4179 Uncertain 22_22042079_G->T 22 22042079 22042079 G T snp 1038.77 0/1 99 62 25 37 0.6 intronic rs741617 PPIL2 AU NM_014337 exon13 c.21633+58G>T 0.238019 0.0873 Uncertain 22_22042918_C->T 22 22042918 22042918 C T snp 663.77 0/1 99 47 21 26 0.55 intronic rs2278118 PPIL2 AU NM_014337 exon15 c.22632-102C>T 0.238019 0.0873 Uncertain 22_22048770_C->G 22 22048770 22048770 C G snp 219.77 0/1 99 11 4 7 0.64 intronic rs2070504 PPIL2 AU NM_014337 exon17 c.28493-111C>G 0.261981 0.0883 Uncertain 22_22055280_A->G 22 22055280 22055280 A G snp 1258.77 0/1 99 70 24 46 0.66 UTR3 rs710172 YPEL1 AU 0.669529 0.7421 Uncertain 22_22055394_A->G 22 22055394 22055394 A G snp 2762.77 0/1 99 220 103 117 0.53 UTR3 rs1860 YPEL1 AU 0.669529 0.7411 0.625327 0.6400 0.7410 Uncertain 22_22055581_C->A 22 22055581 22055581 C A snp 213.77 0/1 99 30 22 8 0.27 intronic rs861816 YPEL1 AU NM_013313 exon1 c.90+74C>A 0.72504 0.7421 Uncertain 22_22057997_-->GGG 22 22057997 22057997 - GGG indel 403.73 0/1 99 34 22 12 0.35 intronic rs147967901 YPEL1 AU NM_013313 exon3 c.2710-130insGGG Uncertain 22_22058000_C->G 22 22058000 22058000 C G snp 396.77 0/1 99 39 26 13 0.33 intronic rs861814 YPEL1 AU NM_013313 exon3 c.2710-127C>G 0.36242 0.0883 Uncertain 22_22058586_T->C 22 22058586 22058586 T C snp 742.77 0/1 99 65 34 31 0.48 intronic rs861813 YPEL1 AU NM_013313 exon3 c.2754+415T>C 0.323083 0.0863 Uncertain 22_22153239_G->A 22 22153239 22153239 G A snp 1173.77 0/1 99 97 50 47 0.48 intronic rs2298434 MAPK1 AU NM_138957 exon5 c.29808-61G>A 0.0988419 0.2242 Uncertain 22_22277571_A->C 22 22277571 22277571 A C snp 3969.77 1/1 99 147 0 147 1.0 exonic rs2070507 PPM1F AU nonsynonymous SNV NM_014634 exon8 c.T1259G p.L420R 0.100639 0.2341 0.030832 0.0709 0.2100 0.34 T 1.000 P -0.967 T 0.993 D 0.879 D Pathogenic 22_22288309_T->C 22 22288309 22288309 T C snp 539.77 1/1 42 14 0 14 1.0 intronic rs94194 PPM1F AU NM_014634 exon5 c.10931-86T>C 0.531949 0.4335 Uncertain 22_22312292_A->G 22 22312292 22312292 A G snp 113.77 0/1 99 132 100 32 0.24 intronic rs2266970 TOP3B AU NM_003935 exon1 c.482+325A>G 0 0 Uncertain 22_22312315_C->T 22 22312315 22312315 C T snp 1913.77 0/1 99 114 29 85 0.75 intronic rs58966041 TOP3B AU NM_003935 exon1 c.482+348C>T 0.3126 0.4087 0 D 0.000 P -0.898 T Uncertain 22_22312350_G->C 22 22312350 22312350 G C snp 1011.77 0/1 99 70 23 47 0.67 intronic rs2187583 TOP3B AU NM_003935 exon1 c.482+383G>C 0.3058 0.3960 1 T 1.000 N -0.992 T Uncertain 22_22312351_G->C 22 22312351 22312351 G C snp 985.77 0/1 99 68 23 45 0.66 intronic rs2187584 TOP3B AU NM_003935 exon1 c.482+384G>C 0.3057 0.3971 0.1 T 1.000 N -1.020 T Uncertain 22_22312383_A->G 22 22312383 22312383 A G snp 498.77 0/1 99 48 23 25 0.52 intronic rs200219922 TOP3B AU NM_003935 exon1 c.482+416A>G 0.0020 0 0.18 T 1.000 N -1.010 T Uncertain 22_22312484_C->T 22 22312484 22312484 C T snp 93.28 1/1 9 6 1 5 0.83 intronic rs71316703 TOP3B AU NM_003935 exon2 c.1378-379C>T 0.0986422 0.2302 Uncertain 22_22313829_A->C 22 22313829 22313829 A C snp 1449.77 1/1 99 40 0 40 1.0 intronic rs239918 TOP3B AU NM_003935 exon4 c.2473-129A>C 0.535743 0.4375 Uncertain 22_22318480_C->A 22 22318480 22318480 C A snp 3971.77 1/1 99 143 0 143 1.0 intronic rs2266974 TOP3B AU NM_003935 exon9 c.7047-52C>A 0.100839 0.2321 Uncertain 22_22318520_C->T 22 22318520 22318520 C T snp 4388.77 1/1 99 152 0 152 1.0 intronic rs2266975 TOP3B AU NM_003935 exon9 c.7047-12C>T 0.0375399 0.128 0.000692 0.0156 0.1300 Uncertain 22_22322177_T->A 22 22322177 22322177 T A snp 3352.77 1/1 99 113 0 113 1.0 intronic rs5750275 TOP3B AU NM_003935 exon11 c.10603+89T>A 0.0998403 0.2302 Uncertain 22_22322270_C->T 22 22322270 22322270 C T snp 330.78 1/1 27 9 0 9 1.0 intronic rs5756253 TOP3B AU NM_003935 exon11 c.10603+182C>T 0.100839 0.2321 Uncertain 22_22327230_-->CAGAGG 22 22327230 22327230 - CAGAGG indel 1308.73 1/1 51 28 0 28 1.0 intronic rs144883685 TOP3B AU NM_003935 exon15 c.15605+140insCAGAGG 0.101238 0.2341 Uncertain 22_22330082_T->C 22 22330082 22330082 T C snp 1922.77 1/1 99 76 0 76 1.0 UTR5 rs239927 TOP3B AU 0.66893 0.4732 0.678225 0.5831 0.4408 Uncertain 22_22517026_T->C 22 22517026 22517026 T C snp 6512.77 1/1 99 242 1 241 1.0 intergenic rs738885 TOP3B AU 0.92492 0.994 0.864705 0.8630 0.9921 Uncertain 22_22517136_C->G 22 22517136 22517136 C G snp 2054.77 1/1 99 58 1 57 0.98 intergenic rs737840 TOP3B AU 0.270168 0.2351 Uncertain 22_22517162_T->A 22 22517162 22517162 T A snp 749.77 1/1 57 20 0 20 1.0 intergenic rs737841 TOP3B AU 0.26897 0.2351 Uncertain 22_22550078_T->C 22 22550078 22550078 T C snp 380.77 1/1 30 10 0 10 1.0 intergenic rs2073446 TOP3B AU 0.698083 0.8601 Uncertain 22_22550339_G->C 22 22550339 22550339 G C snp 7245.77 1/1 99 250 0 250 1.0 intergenic rs9623052 TOP3B AU 0.697484 0.8611 0.652140 0.7598 0.8643 Uncertain 22_22550401_C->G 22 22550401 22550401 C G snp 7052.77 1/1 99 249 0 249 1.0 intergenic rs11705157 TOP3B AU 0.178115 0.2312 0.138818 0.2063 0.2528 Uncertain 22_22550510_T->G 22 22550510 22550510 T G snp 6805.77 1/1 99 235 0 235 1.0 intergenic rs2073448 TOP3B AU 0.697284 0.8601 0.656326 0.7540 0.8617 Uncertain 22_22550760_A->G 22 22550760 22550760 A G snp 2028.77 1/1 99 63 0 63 1.0 intergenic rs5757323 TOP3B AU 0.7706 0.8715 Uncertain 22_22569448_T->A 22 22569448 22569448 T A snp 7359.77 1/1 99 250 0 250 1.0 intergenic rs5750741 TOP3B AU 0.653355 0.6786 0.622205 0.6410 0.6566 Uncertain 22_22569554_C->A 22 22569554 22569554 C A snp 6011.77 1/1 99 215 0 215 1.0 intergenic rs6001413 TOP3B AU 0.482428 0.5903 0.484733 0.5003 0.5783 Uncertain 22_22569640_T->G 22 22569640 22569640 T G snp 2615.77 1/1 99 89 0 89 1.0 intergenic rs6001415 TOP3B AU 0.709465 0.6835 0.678348 0.6618 0.6567 Uncertain 22_22569758_A->C 22 22569758 22569758 A C snp 126.03 1/1 12 4 0 4 1.0 intergenic rs1007312 TOP3B AU 0.724241 0.6865 Uncertain 22_22576057_C->T 22 22576057 22576057 C T snp 93.77 0/1 99 101 80 21 0.21 intergenic rs142971777 TOP3B AU 0.378794 0.5625 Uncertain 22_22577869_A->G 22 22577869 22577869 A G snp 733.77 1/1 57 50 5 45 0.9 intergenic rs201277699 TOP3B AU 0.393371 0.4683 Uncertain 22_22577975_G->A 22 22577975 22577975 G A snp 171.77 1/1 19 56 20 36 0.64 intergenic rs202042955 TOP3B AU Uncertain 22_22578285_G->A 22 22578285 22578285 G A snp 223.78 1/1 24 19 0 19 1.0 intergenic rs200013196 TOP3B AU 0.192891 0.4107 Uncertain 22_22578476_G->A 22 22578476 22578476 G A snp 185.77 0/1 88 25 12 13 0.52 intergenic rs147043341 TOP3B AU Uncertain 22_22599215_A->G 22 22599215 22599215 A G snp 838.77 0/1 99 66 33 33 0.5 UTR5 rs11089977 VPREB1 AU 0.127596 0.1518 0.077195 0.0577 0.1714 0 D 1.0 P -1.017 T Uncertain 22_22599216_T->C 22 22599216 22599216 T C snp 883.77 0/1 99 67 33 34 0.51 UTR5 rs11089978 VPREB1 AU 0.127596 0.1508 0.077041 0.0577 0.1717 0 D 1.0 P -0.998 T Uncertain 22_22599808_C->T 22 22599808 22599808 C T snp 398.77 0/1 99 37 20 17 0.46 UTR3 rs2285019 VPREB1 AU 0.163538 0.1409 Uncertain 22_22673639_T->C 22 22673639 22673639 T C snp 1968.77 0/1 99 160 72 88 0.55 ncRNA_intronic rs737765 BMS1P20 AU 0.359225 0.1657 Uncertain 22_22673784_C->G 22 22673784 22673784 C G snp 38.84 0/1 18 3 1 2 0.67 ncRNA_intronic rs2073459 BMS1P20 AU 0.161142 0.1458 Uncertain 22_22676970_T->C 22 22676970 22676970 T C snp 732.77 0/1 99 69 37 32 0.46 ncRNA_intronic rs6001803 BMS1P20 AU 0.161342 0.1458 0.2300 0.1301 Uncertain 22_22681721_T->C 22 22681721 22681721 T C snp 1355.77 0/1 99 106 51 55 0.52 intergenic rs12484322 BMS1P20 AU 0.194289 0.1458 0.3002 0.2012 Uncertain 22_22681765_G->A 22 22681765 22681765 G A snp 1951.77 0/1 99 165 85 80 0.48 intergenic rs3819309 BMS1P20 AU 0.190495 0.1448 0.2481 0.1410 Uncertain 22_22681962_T->C 22 22681962 22681962 T C snp 2015.77 0/1 99 153 67 86 0.56 intergenic rs117304524 BMS1P20 AU 0.0209665 0.0952 0.003056 0.0106 0.0988 Uncertain 22_22697490_C->A 22 22697490 22697490 C A snp 254.8 1/1 21 7 0 7 1.0 intergenic rs6519245 BMS1P20 AU 0.389177 0.3244 Uncertain 22_22698027_A->G 22 22698027 22698027 A G snp 4378.77 1/1 99 154 0 154 1.0 intergenic rs1894246 BMS1P20 AU 0.995607 0.998 1 1 Uncertain 22_22707275_C->A 22 22707275 22707275 C A snp 685.77 0/1 99 38 17 21 0.55 intergenic rs5995854 BMS1P20 AU 0.302716 0.2688 0.4774 0.4558 Uncertain 22_22707299_A->C 22 22707299 22707299 A C snp 1112.77 0/1 99 57 21 36 0.63 intergenic rs34503659 BMS1P20 AU 0.202676 0.2054 0.4655 0.4506 Uncertain 22_22707309_C->T 22 22707309 22707309 C T snp 1008.77 0/1 99 67 31 36 0.54 intergenic rs35779014 BMS1P20 AU 0.196486 0.2054 0.1815 0.1557 Uncertain 22_22707316_T->C 22 22707316 22707316 T C snp 70.77 0/1 99 76 68 8 0.11 intergenic rs200716375 BMS1P20 AU 0.1607 0.2837 Uncertain 22_22707388_T->C 22 22707388 22707388 T C snp 2304.77 0/1 99 195 95 100 0.51 intergenic rs73153800 BMS1P20 AU 0.196286 0.2024 Uncertain 22_22707429_T->C 22 22707429 22707429 T C snp 3253.77 0/1 99 250 122 128 0.51 intergenic rs73153802 BMS1P20 AU 0.195887 0.2024 0.201308 0.3436 0.3052 Uncertain 22_22707443_T->A 22 22707443 22707443 T A snp 3096.77 0/1 99 248 123 125 0.5 intergenic rs75417423 BMS1P20 AU 0.195887 0.2024 0.208414 0.3419 0.3028 Uncertain 22_22707452_-->T 22 22707452 22707452 - T indel 5058.73 0/1 99 248 101 147 0.59 intergenic rs113847228 BMS1P20 AU 0.196885 0.2024 0.356436 0.3607 0.3298 Uncertain 22_22707456_C->T 22 22707456 22707456 C T snp 974.77 0/1 99 250 190 60 0.24 intergenic rs200544159 BMS1P20 AU 0.2002 0.2049 Uncertain 22_22707473_C->G 22 22707473 22707473 C G snp 1803.77 0/1 99 249 174 75 0.3 intergenic rs74549497 BMS1P20 AU 0.195887 0.2024 0.151887 0.2007 0.1638 Uncertain 22_22707493_T->C 22 22707493 22707493 T C snp 1122.77 0/1 99 250 176 74 0.3 intergenic rs72490665 BMS1P20 AU 0.3211 0.3201 Uncertain 22_22707527_C->T 22 22707527 22707527 C T snp 1195.77 0/1 99 247 173 74 0.3 intergenic rs61739192 BMS1P20 AU 0.134166 0.3112 0.3125 Uncertain 22_22707555_A->G 22 22707555 22707555 A G snp 1414.77 0/1 99 211 146 65 0.31 intergenic rs79612806 BMS1P20 AU 0.195487 0.2034 0.1920 0.1609 Uncertain 22_22707557_C->G 22 22707557 22707557 C G snp 2877.77 0/1 99 211 89 122 0.58 intergenic rs201334749 BMS1P20 AU 0.195687 0.2034 0.2545 0.2253 Uncertain 22_22707564_G->C 22 22707564 22707564 G C snp 972.77 0/1 99 200 149 51 0.26 intergenic rs539733792 BMS1P20 AU 0.000199681 0.0711 0.0782 Uncertain 22_22707576_T->A 22 22707576 22707576 T A snp 2353.77 0/1 99 181 84 97 0.54 intergenic rs117042445 BMS1P20 AU 0.195487 0.2034 0.1734 0.1481 Uncertain 22_22707597_A->G 22 22707597 22707597 A G snp 1825.77 0/1 99 159 78 81 0.51 intergenic rs748013325 BMS1P20 AU 0.1430 0.1210 Uncertain 22_22707601_C->T 22 22707601 22707601 C T snp 1677.77 0/1 99 155 79 76 0.49 intergenic rs755876353 BMS1P20 AU 0.1381 0.1161 Uncertain 22_22707603_C->T 22 22707603 22707603 C T snp 183.77 0/1 99 150 135 15 0.1 intergenic rs771291132 BMS1P20 AU 8.427e-06 0 Uncertain 22_22707608_C->A 22 22707608 22707608 C A snp 1044.77 0/1 99 137 82 55 0.4 intergenic rs768491575 BMS1P20 AU 0.1384 0.1165 Uncertain 22_22707621_G->A 22 22707621 22707621 G A snp 910.77 0/1 99 102 58 44 0.43 intergenic rs118041409 BMS1P20 AU 0.1463 0.1230 Uncertain 22_22707638_A->G 22 22707638 22707638 A G snp 668.77 0/1 99 81 49 32 0.4 intergenic rs560536279 BMS1P20 AU 0.176518 0.1855 0.1327 0.1106 Uncertain 22_22707639_G->A 22 22707639 22707639 G A snp 637.77 0/1 99 79 49 30 0.38 intergenic rs532708314 BMS1P20 AU 0.176518 0.1855 0.1325 0.1103 Uncertain 22_22707646_T->C 22 22707646 22707646 T C snp 676.77 0/1 99 81 50 31 0.38 intergenic rs117610294 BMS1P20 AU 0.194089 0.2014 0.1357 0.1101 Uncertain 22_22707696_G->C 22 22707696 22707696 G C snp 880.77 0/1 99 107 65 42 0.39 intergenic rs73880635 BMS1P20 AU 0.194888 0.2014 0.1901 0.1560 Uncertain 22_22707713_G->T 22 22707713 22707713 G T snp 1010.77 0/1 99 124 73 51 0.41 intergenic rs73880637 BMS1P20 AU 0.194489 0.2014 0.1968 0.1623 Uncertain 22_22707728_C->T 22 22707728 22707728 C T snp 1212.77 0/1 99 143 79 64 0.45 intergenic rs148013584 BMS1P20 AU 0.1954 0.1622 Uncertain 22_22707782_T->C 22 22707782 22707782 T C snp 1323.77 0/1 99 155 86 69 0.45 intergenic rs76446997 BMS1P20 AU 0.094338 0.1937 0.1616 Uncertain 22_22707814_A->G 22 22707814 22707814 A G snp 1304.77 0/1 99 153 89 64 0.42 intergenic rs116843465 BMS1P20 AU 0.196486 0.2024 0.2013 0.1687 Uncertain 22_22707820_T->C 22 22707820 22707820 T C snp 1344.77 0/1 99 146 83 63 0.43 intergenic rs115740254 BMS1P20 AU 0.196685 0.2024 0.2035 0.1689 Uncertain 22_22707835_-->T 22 22707835 22707835 - T indel 1999.73 0/1 99 127 69 58 0.46 intergenic rs66941350 BMS1P20 AU 0.196486 0.2024 Uncertain 22_22712261_C->T 22 22712261 22712261 C T snp 1103.77 0/1 99 98 55 43 0.44 intergenic rs3753077 BMS1P20 AU 0.703874 0.7907 0.7410 0.7950 Uncertain 22_22712467_T->G 22 22712467 22712467 T G snp 2766.77 0/1 99 233 119 114 0.49 intergenic rs5757973 BMS1P20 AU 0.889976 0.7956 0.8783 0.8160 Uncertain 22_22712742_A->G 22 22712742 22712742 A G snp 436.77 0/1 99 26 13 13 0.5 intergenic rs3753078 BMS1P20 AU 0.70607 0.7996 Uncertain 22_22724136_T->- 22 22724136 22724136 T - indel 1013.73 0/1 99 85 34 51 0.6 intergenic rs11324703 BMS1P20 AU 0.902955 0.8978 0.903728 0.8884 0.9190 Uncertain 22_22724341_A->C 22 22724341 22724341 A C snp 1714.77 0/1 99 154 83 71 0.46 intergenic rs9607803 BMS1P20 AU 0.426318 0.377 0.412000 0.4684 0.3802 Uncertain 22_22724394_T->C 22 22724394 22724394 T C snp 1876.77 0/1 99 157 76 81 0.52 intergenic rs7292000 BMS1P20 AU 0.913738 0.8978 0.914612 0.8902 0.9191 Uncertain 22_22730410_T->C 22 22730410 22730410 T C snp 383.77 0/1 99 120 89 31 0.26 intergenic rs368274086 BMS1P20 AU 0.0021 0.0050 Uncertain 22_22730436_T->A 22 22730436 22730436 T A snp 460.77 0/1 99 194 157 37 0.19 intergenic rs372526196 BMS1P20 AU 0.0100 0.0130 Uncertain 22_22730439_A->G 22 22730439 22730439 A G snp 470.77 0/1 99 205 168 37 0.18 intergenic rs375107958 BMS1P20 AU 0.0102 0.0159 Uncertain 22_22730441_T->C 22 22730441 22730441 T C snp 474.77 0/1 99 212 175 37 0.17 intergenic rs368030178 BMS1P20 AU 0.0098 0.0149 Uncertain 22_22730443_C->A 22 22730443 22730443 C A snp 442.77 0/1 99 220 183 37 0.17 intergenic rs371745029 BMS1P20 AU 0.0100 0.0141 Uncertain 22_22730445_G->C 22 22730445 22730445 G C snp 441.77 0/1 99 229 192 37 0.16 intergenic rs374732725 BMS1P20 AU 0.0102 0.0148 Uncertain 22_22730455_T->C 22 22730455 22730455 T C snp 406.77 0/1 99 250 212 38 0.15 intergenic rs369028307 BMS1P20 AU 0.0095 0.0129 Uncertain 22_22730460_C->A 22 22730460 22730460 C A snp 297.77 0/1 99 250 216 34 0.14 intergenic rs774984960 BMS1P20 AU 2.191e-05 0 Uncertain 22_22730461_A->C 22 22730461 22730461 A C snp 297.77 0/1 99 250 218 32 0.13 intergenic BMS1P20 AU Uncertain 22_22730463_C->T 22 22730463 22730463 C T snp 196.77 0/1 99 250 220 30 0.12 intergenic BMS1P20 AU Uncertain 22_22730498_G->A 22 22730498 22730498 G A snp 814.77 0/1 99 250 201 49 0.2 intergenic BMS1P20 AU Uncertain 22_22730513_G->C 22 22730513 22730513 G C snp 104.77 0/1 99 247 225 22 0.09 intergenic BMS1P20 AU 0.2792 0.2759 Uncertain 22_22730534_T->A 22 22730534 22730534 T A snp 41.77 0/1 70 250 228 22 0.09 intergenic rs753871189 BMS1P20 AU 0.2778 0.2685 Uncertain 22_22730539_T->C 22 22730539 22730539 T C snp 162.77 0/1 99 250 228 22 0.09 intergenic rs766428439 BMS1P20 AU 0.2845 0.2738 Uncertain 22_22730549_C->T 22 22730549 22730549 C T snp 266.77 0/1 99 249 224 25 0.1 intergenic rs199590154 BMS1P20 AU 0.2736 0.2632 Uncertain 22_22730566_G->C 22 22730566 22730566 G C snp 626.77 0/1 99 250 217 33 0.13 intergenic rs61731380 BMS1P20 AU 0.2282 0.2172 Uncertain 22_22730583_G->A 22 22730583 22730583 G A snp 643.77 0/1 99 248 212 36 0.15 intergenic rs780772891 BMS1P20 AU 0.2448 0.2094 Uncertain 22_22730584_T->A 22 22730584 22730584 T A snp 642.77 0/1 99 249 211 38 0.15 intergenic rs1985918 BMS1P20 AU 0.1835 0.2090 Uncertain 22_22730586_T->C 22 22730586 22730586 T C snp 772.77 0/1 99 250 212 38 0.15 intergenic rs565651332 BMS1P20 AU 0.000199681 0.1950 0.1715 Uncertain 22_22730595_T->A 22 22730595 22730595 T A snp 960.77 0/1 99 250 198 52 0.21 intergenic rs753958931 BMS1P20 AU 0.2309 0.2027 Uncertain 22_22730619_T->A 22 22730619 22730619 T A snp 1125.77 0/1 99 248 190 58 0.23 intergenic rs61731379 BMS1P20 AU 0.3211 0.2986 Uncertain 22_22730620_C->T 22 22730620 22730620 C T snp 1095.77 0/1 99 250 197 53 0.21 intergenic rs79280084 BMS1P20 AU 0.2902 0.2746 Uncertain 22_22730696_C->T 22 22730696 22730696 C T snp 1665.77 0/1 99 240 162 78 0.33 intergenic rs79492832 BMS1P20 AU 0.3526 0.3444 Uncertain 22_22730702_A->G 22 22730702 22730702 A G snp 1826.77 0/1 99 234 146 88 0.38 intergenic rs61731373 BMS1P20 AU 0.3741 0.3619 Uncertain 22_22730787_G->A 22 22730787 22730787 G A snp 1450.77 0/1 99 230 170 60 0.26 intergenic rs201218283 BMS1P20 AU 0.0917 0.0492 Uncertain 22_22730788_G->A 22 22730788 22730788 G A snp 1800.77 0/1 99 233 133 100 0.43 intergenic rs769337771 BMS1P20 AU 0.1449 0.0881 Uncertain 22_22730799_G->C 22 22730799 22730799 G C snp 1450.77 0/1 99 250 188 62 0.25 intergenic rs199678761 BMS1P20 AU 0.0651 0.0285 Uncertain 22_22730800_A->C 22 22730800 22730800 A C snp 1357.77 0/1 99 249 188 61 0.24 intergenic rs114116194 BMS1P20 AU 0.000399361 0.002 0.0652 0.0288 Uncertain 22_22730829_G->A 22 22730829 22730829 G A snp 1776.77 0/1 99 250 173 77 0.31 intergenic rs140157920 BMS1P20 AU 0.000399361 0.0578 0.0233 Uncertain 22_22730851_A->G 22 22730851 22730851 A G snp 1674.77 0/1 99 246 175 71 0.29 intergenic rs139643222 BMS1P20 AU 0.000399361 0.0001 0 Uncertain 22_22730852_T->C 22 22730852 22730852 T C snp 1524.77 0/1 99 249 177 72 0.29 intergenic rs149708215 BMS1P20 AU Uncertain 22_22730853_G->C 22 22730853 22730853 G C snp 1648.77 0/1 99 250 180 70 0.28 intergenic rs200803951 BMS1P20 AU Uncertain 22_22730860_C->T 22 22730860 22730860 C T snp 1932.77 0/1 99 250 165 85 0.34 intergenic rs117244515 BMS1P20 AU 0.0729 0.0316 Uncertain 22_22730869_G->A 22 22730869 22730869 G A snp 1879.77 0/1 99 250 170 80 0.32 intergenic rs114666913 BMS1P20 AU 0.0703 0.0309 Uncertain 22_22730891_G->C 22 22730891 22730891 G C snp 1833.77 0/1 99 248 165 83 0.33 intergenic rs201626791 BMS1P20 AU 0.0593 0.0284 Uncertain 22_22730973_G->T 22 22730973 22730973 G T snp 63.77 0/1 92 121 110 11 0.09 intergenic BMS1P20 AU Uncertain 22_22730980_C->G 22 22730980 22730980 C G snp 61.77 0/1 90 108 98 10 0.09 intergenic BMS1P20 AU Uncertain 22_22731001_A->T 22 22731001 22731001 A T snp 61.77 0/1 90 65 57 8 0.12 intergenic BMS1P20 AU Uncertain 22_22731004_T->G 22 22731004 22731004 T G snp 48.77 0/1 77 58 51 7 0.12 intergenic BMS1P20 AU Uncertain 22_22731009_A->C 22 22731009 22731009 A C snp 63.77 0/1 92 52 46 6 0.12 intergenic BMS1P20 AU Uncertain 22_22731015_C->T 22 22731015 22731015 C T snp 69.77 0/1 98 45 40 5 0.11 intergenic BMS1P20 AU Uncertain 22_22735736_A->G 22 22735736 22735736 A G snp 5038.77 1/1 99 188 0 188 1.0 intergenic rs448848 BMS1P20 AU 0.635383 0.4435 0.622513 0.5490 0.4505 Uncertain 22_22749576_G->A 22 22749576 22749576 G A snp 1803.77 0/1 99 129 62 67 0.52 intergenic rs184825159 BMS1P20 AU 0.000798722 0.001 0.000165 0.0008 0.0031 Uncertain 22_22749644_G->A 22 22749644 22749644 G A snp 2041.77 0/1 99 169 86 83 0.49 intergenic rs374330971 BMS1P20 AU 0.000599042 0.001 0.000083 0.0007 0.0023 Uncertain 22_22758488_A->T 22 22758488 22758488 A T snp 382.77 1/1 33 13 0 13 1.0 intergenic rs407401 BMS1P20 AU 0.632588 0.5565 Uncertain 22_22758835_C->T 22 22758835 22758835 C T snp 1880.77 1/1 99 68 0 68 1.0 intergenic rs62225019 BMS1P20 AU 0.118211 0.2431 Uncertain 22_22764087_G->A 22 22764087 22764087 G A snp 694.77 1/1 54 21 0 21 1.0 intergenic rs2330093 BMS1P20 AU 0.159345 0.2421 Uncertain 22_22764606_G->T 22 22764606 22764606 G T snp 693.77 0/1 99 52 25 27 0.52 intergenic rs147208821 BMS1P20 AU 0.00159744 0.0079 0.0006 0.0081 Uncertain 22_22782150_G->A 22 22782150 22782150 G A snp 7052.77 1/1 99 248 5 243 0.98 intergenic rs56060925 BMS1P20 AU 0.112021 0.1944 0.117831 0.1403 0.1952 Uncertain 22_22782394_A->G 22 22782394 22782394 A G snp 4342.77 1/1 99 167 0 167 1.0 intergenic rs165704 BMS1P20 AU 0.676318 0.6111 0.736169 0.6717 0.6314 Uncertain 22_22842206_T->C 22 22842206 22842206 T C snp 2030.77 0/1 99 182 94 88 0.48 exonic rs11109 ZNF280B AU synonymous SNV NM_080764 exon4 c.A1518G p.S506S 0.79972 0.7698 0.857835 0.8443 0.7821 Uncertain 22_22842957_T->G 22 22842957 22842957 T G snp 2346.77 0/1 99 223 128 95 0.43 exonic rs2236729 ZNF280B AU nonsynonymous SNV NM_080764 exon4 c.A767C p.E256A 0.822484 0.7698 0.882285 0.8510 0.7823 0.33 T 0.0 P -1.086 T 0.329 T 0.077 T Pathogenic 22_22843118_C->T 22 22843118 22843118 C T snp 1489.77 0/1 99 157 92 65 0.41 exonic rs2236730 ZNF280B AU synonymous SNV NM_080764 exon4 c.G606A p.S202S 0.746605 0.7421 0.801169 0.8054 0.7558 Uncertain 22_22891081_G->T 22 22891081 22891081 G T snp 713.77 0/1 99 57 28 29 0.51 intronic rs2072049 PRAME AU NM_206955 exon1 c.577+16G>T 0.475639 0.4603 0.467483 0.5184 0.4372 Uncertain 22_22895382_G->T 22 22895382 22895382 G T snp 1354.77 0/1 99 118 61 57 0.48 intronic rs559124131 PRAME AU NM_206955 exon3 c.3023+1871G>T 0.000798722 0.004 0.0001 0.0042 Uncertain 22_22895569_G->T 22 22895569 22895569 G T snp 78.77 0/1 69 5 2 3 0.6 intronic rs1076163 PRAME AU NM_206955 exon3 c.3023+2058G>T 0.70647 0.752 Uncertain 22_22899234_A->G 22 22899234 22899234 A G snp 1012.77 0/1 99 96 48 48 0.5 exonic rs1129172 PRAME AU nonsynonymous SNV NM_001291715 exon2 c.T19C p.W7R 0.70627 0.752 0.628479 0.6448 0.7489 1 T 0.412 P -0.984 T 0.0 T 0.0 T Pathogenic 22_22899363_G->A 22 22899363 22899363 G A snp 677.77 0/1 99 52 25 27 0.52 UTR5 rs8139318 PRAME AU 0.70028 0.748 Uncertain 22_22899364_A->G 22 22899364 22899364 A G snp 674.77 0/1 99 53 26 27 0.51 UTR5 rs2283799 PRAME AU 0.702476 0.75 Uncertain 22_22899414_A->G 22 22899414 22899414 A G snp 341.77 0/1 99 23 9 14 0.61 UTR5 rs2283800 PRAME AU 0.704872 0.751 Uncertain 22_22901980_G->- 22 22901980 22901980 G - indel 260.73 0/1 99 30 11 19 0.63 ncRNA_intronic rs113160976 LL22NC03-63E9.3 AU 0.457268 0.369 Uncertain 22_22901988_G->T 22 22901988 22901988 G T snp 258.77 0/1 99 22 10 12 0.55 ncRNA_intronic rs28364788 LL22NC03-63E9.3 AU 0.436701 0.3591 Uncertain 22_22930610_C->T 22 22930610 22930610 C T snp 189.77 0/1 99 12 5 7 0.58 intergenic rs2236731 LL22NC03-63E9.3 AU 0.257388 0.5387 Uncertain 22_22930611_G->T 22 22930611 22930611 G T snp 125.77 0/1 99 13 8 5 0.38 intergenic rs5758869 LL22NC03-63E9.3 AU 0.160942 0.2004 Uncertain 22_22930770_A->G 22 22930770 22930770 A G snp 4183.77 1/1 99 160 0 160 1.0 intergenic rs6002909 LL22NC03-63E9.3 AU 0.977835 0.999 0.9542 1 Uncertain 22_22989076_A->G 22 22989076 22989076 A G snp 94.28 1/1 9 3 0 3 1.0 intronic rs62225861 GGTLC2 AU NM_001282879 exon2 c.176+85A>G 0.526158 0.7391 Uncertain 22_22989256_A->G 22 22989256 22989256 A G snp 2148.77 1/1 99 79 1 78 0.99 exonic rs2904923 GGTLC2 AU nonsynonymous SNV NM_199127 exon2 c.A209G p.E70G 0.953075 1 0.876193 0.8959 0.9998 1 T 0.000 P -0.925 T 0.0 T 0.0 T Pathogenic 22_22989270_G->A 22 22989270 22989270 G A snp 597.77 0/1 99 85 53 32 0.38 exonic rs2330126 GGTLC2 AU nonsynonymous SNV NM_199127 exon2 c.G223A p.D75N 0.16893 0.2123 0.1739 0.1762 1 T 0.652 D -0.893 T 0.001 T 0.007 T Pathogenic 22_22989281_T->C 22 22989281 22989281 T C snp 561.77 0/1 99 87 55 32 0.37 exonic rs3966363 GGTLC2 AU synonymous SNV NM_199127 exon2 c.T234C p.D78D 0.174321 0.2143 0.127192 0.1864 0.1951 Uncertain 22_23011376_G->A 22 23011376 23011376 G A snp 378.77 0/1 99 32 20 12 0.38 intergenic rs11912406 GGTLC2 AU 0.188898 0.2272 Uncertain 22_23029097_A->G 22 23029097 23029097 A G snp 338.77 0/1 99 16 6 10 0.63 intergenic rs453529 GGTLC2 AU 0.703674 0.8056 Uncertain 22_23029263_T->C 22 23029263 23029263 T C snp 5754.77 1/1 99 208 0 208 1.0 intergenic rs443102 GGTLC2 AU 0.911142 0.9276 0.9037 0.9224 Uncertain 22_23029374_G->A 22 23029374 23029374 G A snp 6707.77 1/1 99 248 0 248 1.0 intergenic rs451369 GGTLC2 AU 0.926917 0.9276 Uncertain 22_23029526_G->C 22 23029526 23029526 G C snp 1457.77 0/1 99 146 88 58 0.4 intergenic rs3205084 GGTLC2 AU 0.194688 0.2589 0.161639 0.1553 0.2554 Uncertain 22_23029698_T->C 22 23029698 23029698 T C snp 6405.77 1/1 99 250 0 250 1.0 intergenic rs443756 GGTLC2 AU 0.971446 1 0.917365 0.9238 0.9997 Uncertain 22_23029718_A->T 22 23029718 23029718 A T snp 688.77 0/1 99 250 194 56 0.22 intergenic rs199561156 GGTLC2 AU 0.0289 0.0469 Uncertain 22_23029846_T->C 22 23029846 23029846 T C snp 923.77 0/1 99 122 72 50 0.41 intergenic rs200665672 GGTLC2 AU Uncertain 22_23029871_C->T 22 23029871 23029871 C T snp 567.77 0/1 99 64 39 25 0.39 intergenic GGTLC2 AU Uncertain 22_23029876_C->T 22 23029876 23029876 C T snp 467.77 0/1 99 55 33 22 0.4 intergenic GGTLC2 AU Uncertain 22_23029914_A->G 22 23029914 23029914 A G snp 126.77 0/1 99 13 8 5 0.38 intergenic rs560493306 GGTLC2 AU 0.000199681 Uncertain 22_23040362_A->G 22 23040362 23040362 A G snp 426.77 0/1 99 31 12 19 0.61 intergenic rs5996349 GGTLC2 AU 0.528554 0.5635 Uncertain 22_23041014_C->T 22 23041014 23041014 C T snp 239.77 0/1 99 28 18 10 0.36 intergenic rs12627979 GGTLC2 AU 0.0365415 0.0685 Uncertain 22_23041026_G->A 22 23041026 23041026 G A snp 59.77 0/1 88 17 13 4 0.24 intergenic rs12627906 GGTLC2 AU 0.0393371 0.0675 Uncertain 22_23046741_A->C 22 23046741 23046741 A C snp 257.77 0/1 99 29 17 12 0.41 intergenic rs5759380 GGTLC2 AU 0.378594 0.4236 Uncertain 22_23046742_G->A 22 23046742 23046742 G A snp 257.77 0/1 99 29 17 12 0.41 intergenic rs5751526 GGTLC2 AU 0.127995 0.1815 Uncertain 22_23046915_C->T 22 23046915 23046915 C T snp 787.77 0/1 99 61 26 35 0.57 intergenic rs5759381 GGTLC2 AU 0.328075 0.3919 Uncertain 22_23046940_T->C 22 23046940 23046940 T C snp 918.77 0/1 99 60 27 33 0.55 intergenic rs5751527 GGTLC2 AU 0.327676 0.3909 Uncertain 22_23046954_T->C 22 23046954 23046954 T C snp 1069.77 0/1 99 67 29 38 0.57 intergenic rs5759382 GGTLC2 AU 0.336861 0.3919 Uncertain 22_23046957_T->C 22 23046957 23046957 T C snp 1087.77 0/1 99 66 29 37 0.56 intergenic rs5751528 GGTLC2 AU 0.327077 0.3919 Uncertain 22_23047069_C->A 22 23047069 23047069 C A snp 2694.77 0/1 99 244 132 112 0.46 intergenic rs5751529 GGTLC2 AU 0.327077 0.3929 0.278845 0.2306 0.3739 Uncertain 22_23047104_G->A 22 23047104 23047104 G A snp 3084.77 0/1 99 250 128 122 0.49 intergenic rs5751530 GGTLC2 AU 0.327077 0.3938 0.267396 0.2287 0.3668 Uncertain 22_23047144_C->T 22 23047144 23047144 C T snp 2696.77 0/1 99 242 136 106 0.44 intergenic rs62218411 GGTLC2 AU 0.165535 0.3413 0.0027 0.0056 Uncertain 22_23047145_-->TGATATA 22 23047145 23047145 - TGATATA indel 9215.73 0/1 99 241 133 108 0.45 intergenic rs370918329 GGTLC2 AU 0.144315 Uncertain 22_23047147_CT->- 22 23047147 23047148 CT - indel 3884.73 0/1 99 241 131 110 0.46 intergenic GGTLC2 AU 0.113322 Uncertain 22_23047290_G->A 22 23047290 23047290 G A snp 3158.77 0/1 99 207 82 125 0.6 intergenic rs9623875 GGTLC2 AU 0.330671 0.4087 0.273559 0.2342 0.3906 Uncertain 22_23054916_G->T 22 23054916 23054916 G T snp 1116.77 0/1 99 93 43 50 0.54 intergenic rs5759408 GGTLC2 AU 0.138978 0.3244 0.1144 0.3390 Uncertain 22_23055339_T->C 22 23055339 23055339 T C snp 34.77 0/1 63 6 4 2 0.33 intergenic rs199662081 GGTLC2 AU 0.147963 0.2113 0.1153 0.3488 Uncertain 22_23055421_G->A 22 23055421 23055421 G A snp 1933.77 1/1 99 69 0 69 1.0 intergenic rs1985790 GGTLC2 AU 0.53774 0.7619 0.437844 0.4337 0.7531 Uncertain 22_23055440_C->A 22 23055440 23055440 C A snp 2128.77 1/1 99 77 1 76 0.99 intergenic rs1008910 GGTLC2 AU 0.741014 0.9167 0.604524 0.6079 0.8959 Uncertain 22_23055533_G->A 22 23055533 23055533 G A snp 4067.77 1/1 99 144 0 144 1.0 intergenic rs4446155 GGTLC2 AU 0.484824 0.7411 0.395477 0.4161 0.7408 Uncertain 22_23055539_G->T 22 23055539 23055539 G T snp 4038.77 1/1 99 141 0 141 1.0 intergenic rs1985791 GGTLC2 AU 0.446685 0.7391 0.355146 0.4021 0.7406 Uncertain 22_23055691_G->A 22 23055691 23055691 G A snp 1301.77 0/1 99 94 44 50 0.53 intergenic rs12160583 GGTLC2 AU 0.15595 0.3522 0.058181 0.0829 0.3419 Uncertain 22_23055752_C->T 22 23055752 23055752 C T snp 787.77 1/1 60 22 0 22 1.0 intergenic rs2304533 GGTLC2 AU 0.721446 0.8056 Uncertain 22_23055778_G->T 22 23055778 23055778 G T snp 149.77 0/1 99 11 6 5 0.45 intergenic rs2304532 GGTLC2 AU 0.134984 0.3859 Uncertain 22_23063645_T->G 22 23063645 23063645 T G snp 2348.77 1/1 99 85 0 85 1.0 intergenic rs11090173 GGTLC2 AU 0.791534 0.9187 0.675732 0.6745 0.9273 Uncertain 22_23077555_T->C 22 23077555 23077555 T C snp 3169.77 1/1 99 113 0 113 1.0 intergenic rs4822296 GGTLC2 AU 0.792133 0.9157 0.670426 0.6694 0.9246 Uncertain 22_23077690_C->T 22 23077690 23077690 C T snp 487.77 0/1 99 36 16 20 0.56 intergenic rs4822297 GGTLC2 AU 0.592053 0.751 Uncertain 22_23089759_A->T 22 23089759 23089759 A T snp 4452.77 1/1 99 163 0 163 1.0 intergenic rs2040563 GGTLC2 AU 0.796126 0.9147 Uncertain 22_23089826_G->A 22 23089826 23089826 G A snp 5869.77 1/1 99 216 0 216 1.0 intergenic rs1978004 GGTLC2 AU 0.714856 0.8641 Uncertain 22_23089857_G->A 22 23089857 23089857 G A snp 5556.77 1/1 99 196 0 196 1.0 intergenic rs2040564 GGTLC2 AU 0.590855 0.6399 Uncertain 22_23089865_A->G 22 23089865 23089865 A G snp 5459.77 1/1 99 194 0 194 1.0 intergenic rs2040565 GGTLC2 AU 0.714856 0.8641 0.6615 0.8462 Uncertain 22_23089942_CT->- 22 23089942 23089943 CT - indel 3692.73 1/1 99 87 0 87 1.0 intergenic rs3087123 GGTLC2 AU 0.599241 0.6409 0.6524 0.6867 Uncertain 22_23089996_T->C 22 23089996 23089996 T C snp 1293.77 1/1 96 38 0 38 1.0 intergenic rs2040566 GGTLC2 AU 0.713259 0.8641 0.6911 0.8860 Uncertain 22_23090423_G->C 22 23090423 23090423 G C snp 2519.77 1/1 99 105 0 105 1.0 intergenic rs34605189 GGTLC2 AU 0.596246 0.6399 0.5836 0.6477 Uncertain 22_23090438_A->G 22 23090438 23090438 A G snp 1786.77 1/1 99 73 0 73 1.0 intergenic rs56223989 GGTLC2 AU 0.595647 0.6399 0.5297 0.6111 Uncertain 22_23090468_C->T 22 23090468 23090468 C T snp 776.77 1/1 66 35 0 35 1.0 intergenic rs58198190 GGTLC2 AU 0.592053 0.6399 Uncertain 22_23090475_T->C 22 23090475 23090475 T C snp 490.77 1/1 45 25 0 25 1.0 intergenic rs58580735 GGTLC2 AU 0.593051 0.6399 Uncertain 22_23101216_A->G 22 23101216 23101216 A G snp 463.77 1/1 36 13 0 13 1.0 intergenic rs4822301 GGTLC2 AU 0.710663 0.8621 0.3830 0.7077 Uncertain 22_23101221_A->G 22 23101221 23101221 A G snp 621.77 1/1 48 17 0 17 1.0 intergenic rs4822302 GGTLC2 AU 0.710663 0.8621 0.3550 0.6816 Uncertain 22_23101247_G->A 22 23101247 23101247 G A snp 1147.77 1/1 87 36 0 36 1.0 intergenic rs4822303 GGTLC2 AU 0.576478 0.6339 0.4279 0.5259 Uncertain 22_23101248_C->T 22 23101248 23101248 C T snp 1158.77 1/1 87 36 0 36 1.0 intergenic rs4822304 GGTLC2 AU 0.586062 0.6369 0.4306 0.5298 Uncertain 22_23101280_C->T 22 23101280 23101280 C T snp 1831.77 1/1 99 60 0 60 1.0 intergenic rs1894244 GGTLC2 AU 0.710863 0.8621 0.6472 0.8730 Uncertain 22_23101301_A->G 22 23101301 23101301 A G snp 1943.77 1/1 99 73 0 73 1.0 intergenic rs4822305 GGTLC2 AU 0.711462 0.8621 0.6513 0.8779 Uncertain 22_23101347_G->A 22 23101347 23101347 G A snp 2563.77 1/1 99 103 8 95 0.92 intergenic rs1894245 GGTLC2 AU 0.586861 0.6389 0.5876 0.6549 Uncertain 22_23101523_G->A 22 23101523 23101523 G A snp 1754.77 1/1 99 54 0 54 1.0 intergenic rs3737543 GGTLC2 AU 0.352236 0.5665 0.230903 0.2989 0.5797 Uncertain 22_23101559_G->T 22 23101559 23101559 G T snp 1571.77 1/1 99 48 0 48 1.0 intergenic rs4134484 GGTLC2 AU 0.710863 0.8621 0.599548 0.6478 0.8757 Uncertain 22_23114239_T->C 22 23114239 23114239 T C snp 1593.77 1/1 99 56 0 56 1.0 intergenic rs8138758 GGTLC2 AU 0.608626 0.9454 Uncertain 22_23114285_T->C 22 23114285 23114285 T C snp 2618.77 1/1 99 103 0 103 1.0 intergenic rs8138785 GGTLC2 AU 0.608826 0.9454 0.5081 0.9310 Uncertain 22_23114327_T->C 22 23114327 23114327 T C snp 2895.77 1/1 99 118 0 118 1.0 intergenic rs6003299 GGTLC2 AU 0.608626 0.9444 0.5078 0.9304 Uncertain 22_23114350_A->G 22 23114350 23114350 A G snp 2688.77 1/1 99 115 0 115 1.0 intergenic rs5996382 GGTLC2 AU 0.608626 0.9444 0.5076 0.9265 Uncertain 22_23114502_A->G 22 23114502 23114502 A G snp 301.78 1/1 24 10 0 10 1.0 intergenic rs5759466 GGTLC2 AU 0.608427 0.9464 Uncertain 22_23114508_G->A 22 23114508 23114508 G A snp 143.03 1/1 12 5 0 5 1.0 intergenic rs5751549 GGTLC2 AU 0.333067 0.5714 Uncertain 22_23114993_G->A 22 23114993 23114993 G A snp 7631.77 1/1 99 250 0 250 1.0 intergenic rs2073451 GGTLC2 AU 0.390775 0.5694 0.288275 0.3334 0.5941 Uncertain 22_23135588_G->A 22 23135588 23135588 G A snp 806.77 1/1 60 29 0 29 1.0 intergenic rs2016511 GGTLC2 AU 0.329473 0.4663 Uncertain 22_23165839_-->C 22 23165839 23165839 - C indel 3288.73 1/1 99 98 0 98 1.0 downstream rs397749268 MIR650 AU 0.9998 1 Uncertain 22_23223070_G->A 22 23223070 23223070 G A snp 3312.77 1/1 99 122 0 122 1.0 intergenic rs378183 MIR650 AU 0.457268 0.7113 Uncertain 22_23241620_A->G 22 23241620 23241620 A G snp 1050.77 1/1 78 33 0 33 1.0 intergenic rs462915 IGLL5 AU 0.632588 0.9653 Uncertain 22_23241705_G->A 22 23241705 23241705 G A snp 3814.77 1/1 99 164 0 164 1.0 intergenic rs62218846 IGLL5 AU 0.643171 0.9653 0.4652 0.9622 Uncertain 22_23241753_-->A 22 23241753 23241753 - A indel 8621.73 1/1 99 192 0 192 1.0 intergenic rs202036213 IGLL5 AU 0.4905 0.9767 Uncertain 22_23243481_C->A 22 23243481 23243481 C A snp 1731.77 1/1 99 146 22 124 0.85 intergenic rs16994643 IGLL5 AU 0.361222 0.7381 0.4694 0.8229 Uncertain 22_23243496_A->- 22 23243496 23243496 A - indel 1828.73 1/1 99 48 0 48 1.0 intergenic rs59145420 IGLL5 AU 0.397764 0.745 0.404390 0.5005 0.8038 Uncertain 22_23247025_G->A 22 23247025 23247025 G A snp 1648.77 0/1 99 222 148 74 0.33 intergenic rs2009423 IGLL5 AU 0.2337 0.4725 Uncertain 22_23247028_A->G 22 23247028 23247028 A G snp 2400.77 0/1 99 249 149 100 0.4 intergenic rs464478 IGLL5 AU 0.6760 0.4978 Uncertain 22_23247082_C->G 22 23247082 23247082 C G snp 4956.77 0/1 99 250 92 158 0.63 intergenic rs2009433 IGLL5 AU 0.287939 0.498 0.2328 0.4874 Uncertain 22_23248758_G->A 22 23248758 23248758 G A snp 986.77 0/1 99 127 66 61 0.48 intergenic rs1059142 IGLL5 AU 0.6102 0.5264 Uncertain 22_23248837_C->A 22 23248837 23248837 C A snp 458.77 0/1 99 155 86 69 0.45 intergenic rs4848 IGLL5 AU 0.2310 0.4481 Uncertain 22_23248852_A->- 22 23248852 23248852 A - indel 471.73 0/1 99 51 33 18 0.35 intergenic rs71797740 IGLL5 AU 0.215655 0.3879 0.2615 0.4571 Uncertain 22_23256464_G->C 22 23256464 23256464 G C snp 5834.77 1/1 99 214 0 214 1.0 intergenic rs463185 IGLL5 AU 0.939497 0.9742 0.932769 0.9230 0.9849 Uncertain 22_23260279_GG->- 22 23260279 23260280 GG - indel 1525.73 1/1 93 31 0 31 1.0 intergenic rs59884698 IGLL5 AU 0.5481 0.75 Uncertain 22_23260507_T->A 22 23260507 23260507 T A snp 261.8 1/1 21 8 0 8 1.0 intergenic rs410521 IGLL5 AU 0.970048 1 Uncertain 22_23262162_C->A 22 23262162 23262162 C A snp 59.74 1/1 6 3 0 3 1.0 intergenic rs375081 IGLL5 AU Uncertain 22_23263602_C->T 22 23263602 23263602 C T snp 1531.77 1/1 99 60 0 60 1.0 intergenic rs373405 IGLL5 AU 0.944489 0.9752 0.940274 0.9233 0.9848 Uncertain 22_23438191_C->T 22 23438191 23438191 C T snp 7810.77 1/1 99 250 0 250 1.0 exonic rs1805058 GNAZ AU synonymous SNV NM_002073 exon2 c.C309T p.D103D 0.24401 0.3601 0.225161 0.2654 0.3695 Uncertain 22_23438536_C->T 22 23438536 23438536 C T snp 2676.77 0/1 99 250 142 108 0.43 exonic rs2230332 GNAZ AU synonymous SNV NM_002073 exon2 c.C654T p.G218G 0.00638978 0.002 0.006074 0.0018 0.0007 Uncertain 22_23479559_G->A 22 23479559 23479559 G A snp 97.28 1/1 9 3 0 3 1.0 intronic rs6519415 RSPH14 AU NM_014433 exon5 c.79387-1467G>A 0.431709 0.4028 Uncertain 22_23480962_T->G 22 23480962 23480962 T G snp 143.03 1/1 12 6 0 6 1.0 intronic rs5759598 RSPH14 AU NM_014433 exon5 c.79387-64T>G 0.563299 0.4038 Uncertain 22_23481134_AA->- 22 23481134 23481135 AA - indel 2895.73 1/1 99 102 6 96 0.94 splicing rs58874302 RSPH14 AU NM_014433 exon5 c.79490+5_79490+6delAA 0.2286 0.3101 Pathogenic 22_23482460_A->G 22 23482460 23482460 A G snp 1443.77 1/1 99 52 0 52 1.0 exonic rs4822360 RSPH14 AU synonymous SNV NM_014433 exon2 c.T148C p.L50L 0.52476 0.4038 0.587883 0.5403 0.4097 Uncertain 22_23482718_C->T 22 23482718 23482718 C T snp 391.77 1/1 30 11 0 11 1.0 intronic rs4822361 RSPH14 AU NM_014433 exon6 c.81020+59C>T 0.431709 0.4018 Uncertain 22_23482744_C->A 22 23482744 23482744 C A snp 212.84 1/1 18 6 0 6 1.0 intronic rs4822362 RSPH14 AU NM_014433 exon6 c.81020+85C>A 0.432308 0.4038 Uncertain 22_23488569_G->T 22 23488569 23488569 G T snp 56.74 1/1 6 2 0 2 1.0 intronic rs9612243 RAB36 AU NM_004914 exon2 c.1239-222G>T 0.686901 0.9444 Uncertain 22_23497998_G->A 22 23497998 23497998 G A snp 308.78 1/1 24 11 0 11 1.0 intronic rs5759607 RAB36 AU NM_004914 exon6 c.10602-156G>A 0.222644 0.3423 Uncertain 22_23498329_C->T 22 23498329 23498329 C T snp 218.84 1/1 18 6 0 6 1.0 intronic rs201693487 RAB36 AU NM_004914 exon6 c.10667+110C>T 0.0176 0.0212 1.000 N Uncertain 22_23498330_A->G 22 23498330 23498330 A G snp 180.9 1/1 15 5 0 5 1.0 intronic rs200147142 RAB36 AU NM_004914 exon6 c.10667+111A>G 0.0131 0.0181 1 N -1.002 T Uncertain 22_23498333_-->AAACCACTGAGAAAAC 22 23498333 23498333 - AAACCACTGAGAAAAC indel 507.87 1/1 15 5 0 5 1.0 intronic rs56254210 RAB36 AU NM_004914 exon6 c.10667+114insAAACCACTGAGAAAAC Uncertain 22_23498334_C->A 22 23498334 23498334 C A snp 158.9 1/1 15 5 0 5 1.0 intronic rs200959762 RAB36 AU NM_004914 exon6 c.10667+115C>A 0.0108 0.0128 1 N -1.004 T Uncertain 22_23501679_T->G 22 23501679 23501679 T G snp 141.03 1/1 12 5 0 5 1.0 intronic rs9612251 RAB36 AU NM_004914 exon9 c.13888+239T>G 0.234425 0.3462 Uncertain 22_23503121_G->A 22 23503121 23503121 G A snp 4798.77 1/1 99 163 0 163 1.0 exonic rs5759611 RAB36 AU synonymous SNV NM_004914 exon10 c.G873A p.S291S 0.227236 0.3413 0.211595 0.2608 0.3561 Uncertain 22_23503382_C->T 22 23503382 23503382 C T snp 1048.77 1/1 78 28 0 28 1.0 intronic rs5759616 RAB36 AU NM_004914 exon10 c.15633+197C>T 0.22484 0.3413 Uncertain 22_23523073_-->C 22 23523073 23523073 - C indel 326.74 1/1 27 9 0 9 1.0 UTR5 rs370385572 BCR AU 0.997604 1 Uncertain 22_23523082_-->C 22 23523082 23523082 - C indel 386.74 1/1 30 10 0 10 1.0 UTR5 rs199698427 BCR AU 0.9998 1 Uncertain 22_23523630_C->A 22 23523630 23523630 C A snp 3909.77 1/1 99 148 1 147 0.99 exonic rs5751602 BCR AU synonymous SNV NM_004327 exon1 c.C483A p.I161I 0.291534 0.3542 0.255783 0.2894 0.3667 Uncertain 22_23540414_T->G 22 23540414 23540414 T G snp 691.77 1/1 51 22 0 22 1.0 intronic rs2071431 BCR AU NM_021574 exon1 c.1279+15988T>G 0.302716 0.3581 0.286188 0.2934 0.3662 Uncertain 22_23540609_A->G 22 23540609 23540609 A G snp 1703.77 1/1 99 61 0 61 1.0 intronic rs4822371 BCR AU NM_021574 exon1 c.1279+16183A>G 0.836661 0.9871 0.767701 0.7910 0.9946 Uncertain 22_23540799_A->G 22 23540799 23540799 A G snp 48.74 1/1 6 2 0 2 1.0 intronic rs2071432 BCR AU NM_021574 exon1 c.1279+16373A>G 0.228035 0.3581 Uncertain 22_23541488_C->T 22 23541488 23541488 C T snp 5455.77 1/1 99 189 0 189 1.0 intronic rs2071436 BCR AU NM_021574 exon1 c.1279+17062C>T 0.226438 0.3581 0.213987 0.2630 0.3650 0.02 T 0.000 P -1.021 T Uncertain 22_23585132_A->G 22 23585132 23585132 A G snp 664.77 0/1 99 69 36 33 0.48 intronic rs1004040 BCR AU NM_021574 exon2 c.72838-10853A>G 0.576677 0.5774 0.5715 0.6324 Uncertain 22_23627441_T->C 22 23627441 23627441 T C snp 343.78 1/1 27 9 0 9 1.0 intronic rs131675 BCR AU NM_021574 exon10 c.104241+53T>C 1 1 Uncertain 22_23632333_G->A 22 23632333 23632333 G A snp 182.9 1/1 15 5 0 5 1.0 intronic rs140506 BCR AU NM_021574 exon14 c.109378-192G>A 0.989816 1 Uncertain 22_23657477_A->G 22 23657477 23657477 A G snp 118.77 0/1 99 11 5 6 0.55 intronic rs180810 BCR AU NM_021574 exon22 c.134472-142A>G 0.467252 0.63 Uncertain 22_23657495_C->G 22 23657495 23657495 C G snp 147.77 0/1 99 17 10 7 0.41 intronic rs180811 BCR AU NM_021574 exon22 c.134472-124C>G 0.424321 0.5704 Uncertain 22_23657735_G->A 22 23657735 23657735 G A snp 43.77 0/1 72 5 3 2 0.4 UTR3 rs180812 BCR AU 0.463658 0.6181 0.416449 0.4082 0.6001 Uncertain 22_23735420_G->A 22 23735420 23735420 G A snp 586.77 1/1 45 19 0 19 1.0 ncRNA_intronic rs4822393 ZDHHC8P1 AU 0.363019 0.756 Uncertain 22_23735430_CT->- 22 23735430 23735431 CT - indel 1266.73 1/1 72 24 0 24 1.0 ncRNA_intronic rs10533737 ZDHHC8P1 AU 0.507588 0.7589 Uncertain 22_23735649_C->A 22 23735649 23735649 C A snp 290.78 1/1 24 10 0 10 1.0 ncRNA_intronic rs8135826 ZDHHC8P1 AU 0.885184 0.9435 Uncertain 22_23735751_T->C 22 23735751 23735751 T C snp 94.28 1/1 9 3 0 3 1.0 ncRNA_intronic rs8139944 ZDHHC8P1 AU 0.884585 0.9425 Uncertain 22_23779822_C->T 22 23779822 23779822 C T snp 292.77 0/1 99 36 24 12 0.33 intergenic rs5759802 LOC101929374 AU 0.191094 0.4435 Uncertain 22_23915370_G->A 22 23915370 23915370 G A snp 631.77 0/1 99 36 12 24 0.67 UTR3 rs8141940 IGLL1 AR 0.120407 0.0159 Uncertain 22_23915610_A->T 22 23915610 23915610 A T snp 1408.77 0/1 99 134 69 65 0.49 exonic rs111903752 IGLL1 AR nonsynonymous SNV NM_020070 exon3 c.T485A p.M162K 0.0383387 0.0188 0.041519 0.0312 0.0132 0 D 0.999 N -0.897 T 0.001 T 0.019 T Pathogenic 22_23962744_-->TTC 22 23962744 23962744 - TTC indel 4026.73 0/1 99 164 90 74 0.45 intronic rs72559613 DRICH1 AU NM_016449 exon8 c.11830-36insTTC 0.294329 0.2857 0.310854 0.3766 0.2585 Uncertain 22_23982724_T->C 22 23982724 23982724 T C snp 4372.77 1/1 99 158 0 158 1.0 ncRNA_intronic rs56397271 GUSBP11 AU 0.7498 0.6647 Uncertain 22_23982727_A->G 22 23982727 23982727 A G snp 4433.77 1/1 99 160 0 160 1.0 ncRNA_intronic rs28645846 GUSBP11 AU 0.7498 0.6647 Uncertain 22_24034288_A->G 22 24034288 24034288 A G snp 3909.77 1/1 99 141 0 141 1.0 exonic rs738786 RGL4 AU nonsynonymous SNV NM_153615 exon1 c.A71G p.Q24R 0.55012 0.6071 0.492542 0.5559 0.5984 0.93 T 0.0 P -0.965 T 0.659 T 0.403 P Pathogenic 22_24035970_C->T 22 24035970 24035970 C T snp 3233.06 1/1 99 120 0 120 1.0 exonic rs2070446 RGL4 AU nonsynonymous SNV NM_153615 exon4 c.C721T p.H241Y 0.774561 0.6687 0.780640 0.7289 0.6597 1 T 0.0 P -1.002 T 0.001 T 0.004 T Pathogenic 22_24038847_T->C 22 24038847 24038847 T C snp 1370.77 1/1 99 48 0 48 1.0 exonic rs1007298 RGL4 AU nonsynonymous SNV NM_153615 exon7 c.T1133C p.V378A 0.76857 0.6964 0.758920 0.7166 0.6712 1 T 0.000 P -0.997 T 0.0 T 0.0 T Pathogenic 22_24086107_A->G 22 24086107 24086107 A G snp 1395.77 0/1 99 105 49 56 0.53 exonic rs5759985 ZNF70 AU synonymous SNV NM_021916 exon2 c.T1221C p.I407I 0.55651 0.6865 0.490389 0.4259 0.6905 Uncertain 22_24087319_A->C 22 24087319 24087319 A C snp 2842.77 0/1 99 246 126 120 0.49 exonic rs2070451 ZNF70 AU synonymous SNV NM_021916 exon2 c.T9G p.V3V 0.166134 0.2966 0.122713 0.1356 0.2906 Uncertain 22_24094836_C->T 22 24094836 24094836 C T snp 889.77 0/1 99 70 32 38 0.54 downstream rs2070452 VPREB3 AU 0.153754 0.3383 Uncertain 22_24094912_T->C 22 24094912 24094912 T C snp 1877.77 0/1 99 152 70 82 0.54 downstream rs4820566 VPREB3 AU 0.602037 0.746 Uncertain 22_24096783_T->C 22 24096783 24096783 T C snp 221.77 0/1 99 13 6 7 0.54 upstream rs1076123 VPREB3 AU 0.245208 0.3383 Uncertain 22_24106674_G->A 22 24106674 24106674 G A snp 5730.77 1/1 99 193 0 193 1.0 intronic rs140181 C22orf15 AU NM_182520 exon3 c.1091+90G>A 0.744209 0.6647 0.813827 0.7702 0.6269 Uncertain 22_24108288_C->G 22 24108288 24108288 C G snp 2587.77 1/1 99 98 0 98 1.0 intronic rs140182 CHCHD10 AD NM_213720 exon2 c.121-26C>G 0.730232 0.6647 0.804629 0.7734 0.6164 Uncertain 22_24108412_G->A 22 24108412 24108412 G A snp 711.77 1/1 54 25 0 25 1.0 exonic rs9153 CHCHD10 AD synonymous SNV NM_213720 exon3 c.C312T p.Y104Y 0.729832 0.6647 0.805013 0.7766 0.6365 0 D 1.0 P -1.003 T Likely benign 22_24109550_T->C 22 24109550 24109550 T C snp 263.8 1/1 21 10 0 10 1.0 intronic rs131444 CHCHD10 AD NM_213720 exon3 c.1367-10T>C 0.871006 0.7391 0.923853 0.8789 0.7191 Uncertain 22_24109774_T->G 22 24109774 24109774 T G snp 508.77 1/1 39 18 0 18 1.0 exonic rs179468 CHCHD10 AD synonymous SNV NM_213720 exon2 c.A48C p.P16P 0.875799 0.7758 0.8217 1 Uncertain 22_24121378_C->T 22 24121378 24121378 C T snp 2159.77 1/1 99 77 0 77 1.0 exonic rs738792 MMP11 AU nonsynonymous SNV NM_005940 exon2 c.C113T p.A38V 0.708267 0.6984 0.802437 0.8455 0.7176 0.32 T 0.0 P -0.974 T 0.099 T 0.025 T Pathogenic 22_24121447_C->T 22 24121447 24121447 C T snp 875.77 0/1 99 86 47 39 0.45 exonic rs28363647 MMP11 AU nonsynonymous SNV NM_005940 exon2 c.C182T p.P61L 0.00139776 0.006 0.000308 0.0005 0.0049 1 T 1 N -0.976 T 0.18 T 0.034 T Pathogenic 22_24122499_G->A 22 24122499 24122499 G A snp 1105.77 1/1 81 33 0 33 1.0 intronic rs9612427 MMP11 AU NM_005940 exon3 c.7488-46G>A 0.333866 0.3244 0.383959 0.4398 0.3197 Uncertain 22_24125565_G->A 22 24125565 24125565 G A snp 3843.77 1/1 99 143 2 141 0.99 intronic rs2877173 MMP11 AU NM_005940 exon8 c.10540-32G>A 0.863219 0.7312 0.930955 0.8956 0.7177 Uncertain 22_24129240_C->T 22 24129240 24129240 C T snp 686.77 0/1 99 32 8 24 0.75 UTR5 rs11090285 SMARCB1 AU,AD 0.0958466 0.1419 Uncertain 22_24129554_GC->- 22 24129554 24129555 GC - indel 720.73 1/1 54 29 0 29 1.0 intronic rs398036629 SMARCB1 AU,AD NM_003073 exon1 c.93+105_93+106delGC 0.439896 0.4464 Uncertain 22_24142977_G->C 22 24142977 24142977 G C snp 267.8 1/1 21 7 0 7 1.0 intronic rs9608185 SMARCB1 AU,AD NM_003073 exon4 c.13774-153G>C 0.533347 0.5625 Uncertain 22_24142978_C->T 22 24142978 24142978 C T snp 264.8 1/1 21 7 0 7 1.0 intronic rs9608186 SMARCB1 AU,AD NM_003073 exon4 c.13774-152C>T 0.53155 0.5575 Uncertain 22_24143502_C->G 22 24143502 24143502 C G snp 6253.77 1/1 99 220 0 220 1.0 intronic rs738797 SMARCB1 AU,AD NM_003073 exon4 c.13912+234C>G 0.711661 0.7024 0.7939 0.7229 CLINSIG=untested;CLNDBN=not_specified;CLNREVSTAT=no_assertion_provided;CLNACC=RCV000119894.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 22_24145395_A->G 22 24145395 24145395 A G snp 3209.76 1/1 99 110 0 110 1.0 intronic rs5760030 SMARCB1 AU,AD NM_003073 exon5 c.16125-86A>G 0.866813 0.7351 Uncertain 22_24145675_G->C 22 24145675 24145675 G C snp 864.77 1/1 63 27 0 27 1.0 intronic rs5751738 SMARCB1 AU,AD NM_003073 exon5 c.16253+66G>C 0.866813 0.7351 Uncertain 22_24145727_C->T 22 24145727 24145727 C T snp 48.74 1/1 6 2 0 2 1.0 intronic rs5760032 SMARCB1 AU,AD NM_003073 exon5 c.16253+118C>T 0.606629 0.6419 Uncertain 22_24176960_A->- 22 24176960 24176960 A - indel 4622.73 1/1 99 111 0 111 1.0 UTR3 rs35305666 DERL3 AU Uncertain 22_24180124_C->- 22 24180124 24180124 C - indel 312.74 1/1 27 11 0 11 1.0 intronic rs35361389 DERL3 AU NM_001135751 exon3 c.3028+83delC 0.32488 0.3204 Uncertain 22_24199261_G->- 22 24199261 24199261 G - indel 1010.73 1/1 70 80 7 73 0.91 UTR5 rs60895711 SLC2A11 AU Uncertain 22_24209759_G->C 22 24209759 24209759 G C snp 202.77 0/1 96 12 4 8 0.67 intronic rs2330626 SLC2A11 AU NM_030807 exon4 c.10991-908G>C 0.769968 0.6736 Uncertain 22_24210050_A->C 22 24210050 24210050 A C snp 77.77 0/1 99 7 4 3 0.43 intronic rs4428104 SLC2A11 AU NM_030807 exon4 c.10991-617A>C 0.312101 0.3145 Uncertain 22_24220261_C->G 22 24220261 24220261 C G snp 179.77 0/1 94 9 3 6 0.67 intronic rs117149477 SLC2A11 AU NM_030807 exon7 c.20380+205C>G 0.0219649 0.1042 Uncertain 22_24224655_G->A 22 24224655 24224655 G A snp 267.77 0/1 99 19 9 10 0.53 exonic rs9608213 SLC2A11 AU nonsynonymous SNV NM_001024938 exon7 c.G695A p.R232Q 0.34365 0.3194 0.309886 0.5053 0.4301 0.213 P -0.984 T 0.094 T 0.053 T Pathogenic 22_24224659_C->A 22 24224659 24224659 C A snp 221.77 0/1 99 20 11 9 0.45 exonic rs9612499 SLC2A11 AU synonymous SNV NM_001024938 exon7 c.C699A p.L233L 0.34365 0.3194 0.313692 0.5018 0.4202 0.13 T 1.000 P -0.930 T Likely benign 22_24226242_A->G 22 24226242 24226242 A G snp 988.77 0/1 99 105 61 44 0.42 intronic rs2070460 SLC2A11 AU NM_030807 exon11 c.26535+31A>G 0.705272 0.6756 0.691604 0.7058 0.6380 Uncertain 22_24236860_G->A 22 24236860 24236860 G A snp 214.77 0/1 99 21 12 9 0.43 ncRNA_exonic MIF-AS1 AU Uncertain 22_24237190_TG->- 22 24237190 24237191 TG - indel 2303.73 0/1 99 97 48 49 0.51 ncRNA_exonic rs34690596 MIF-AS1 AU 0.00339457 0.0099 0.000432 0.0029 0.0195 Uncertain 22_24237348_G->A 22 24237348 24237348 G A snp 945.77 0/1 99 74 33 41 0.55 ncRNA_exonic rs36065127 MIF-AS1 AU 0.00339457 0.0099 0.0021 0.0073 0 D 1.000 N -0.965 T 1.0 D 0.858 D Uncertain 22_24237463_T->C 22 24237463 24237463 T C snp 2201.77 1/1 99 75 0 75 1.0 ncRNA_exonic rs2070767 MIF-AS1 AU 0.771965 0.6944 0.7972 0.6988 0 D -1.028 T 0.002 T 0.001 T Uncertain 22_24284825_C->G 22 24284825 24284825 C G snp 3015.77 1/1 99 104 0 104 1.0 intergenic rs6003982 MIF-AS1 AU 0.610423 0.6458 Uncertain 22_24285058_AAAACAAAAACA->- 22 24285058 24285069 AAAACAAAAACA - indel 1733.73 1/1 42 32 0 32 1.0 intergenic rs201546417 MIF-AS1 AU 0.605232 0.6468 Uncertain 22_24300634_G->T 22 24300634 24300634 G T snp 154.84 1/1 18 53 0 53 1.0 exonic rs2227965 GSTT2B AU synonymous SNV NM_001080843 exon4 c.C363A p.P121P 0.85024 0.8056 0.2034 0.1566 Uncertain 22_24302486_A->G 22 24302486 24302486 A G snp 233.78 1/1 24 11 0 11 1.0 exonic rs364069 GSTT2B AU synonymous SNV NM_001080843 exon2 c.T195C p.T65T 0.9732 1 Uncertain 22_24313531_GA->- 22 24313531 24313532 GA - indel 880.73 0/1 99 61 38 23 0.38 exonic rs199896117 DDTL AU frameshift deletion NM_001084393 exon3 c.341_342del p.G114fs 0.0105831 0.0278 0.001703 0.0060 0.0275 Pathogenic 22_24313856_T->C 22 24313856 24313856 T C snp 851.77 0/1 99 58 25 33 0.57 UTR3 rs117545171 DDTL AU 0.0105831 0.0278 0.001922 0.0061 0.0291 Uncertain 22_24313954_A->G 22 24313954 24313954 A G snp 152.77 0/1 97 9 3 6 0.67 UTR3 rs79213832 DDTL AU 0.125 0.0387 Uncertain 22_24323131_C->T 22 24323131 24323131 C T snp 1768.77 0/1 99 250 173 77 0.31 intronic rs35389228 GSTT2 AU NM_000854 exon2 c.750-7C>T 0.148562 0.3105 0.142385 0.1501 0.2862 Uncertain 22_24323227_G->A 22 24323227 24323227 G A snp 4576.77 0/1 99 237 57 180 0.76 splicing rs5996646 GSTT2 AU NM_000854 exon2 c.838+1G>A 0.120674 0.1448 0.2975 1.0 P Pathogenic 22_24323303_G->A 22 24323303 24323303 G A snp 1729.77 0/1 99 80 21 59 0.74 intronic rs371581404 GSTT2 AU NM_000854 exon2 c.838+77G>A Uncertain 22_24325062_G->A 22 24325062 24325062 G A snp 1595.77 0/1 99 195 126 69 0.35 exonic rs2301423 GSTT2 AU nonsynonymous SNV NM_000854 exon4 c.G352A p.V118M 0.115462 0.1489 0.2902 0.000 P -1.003 T 0.999 D 0.828 D Pathogenic 22_24325095_A->G 22 24325095 24325095 A G snp 361.77 0/1 99 127 52 75 0.59 exonic rs140195 GSTT2 AU nonsynonymous SNV NM_000854 exon4 c.A385G p.K129E 0.63119 0.2599 0.0189 0.0072 0.6 T 0.000 P -0.964 T 0.0 T 0.0 T Pathogenic 22_24459438_T->C 22 24459438 24459438 T C snp 6462.77 1/1 99 223 0 223 1.0 exonic rs762273 CABIN1 AU synonymous SNV NM_012295 exon14 c.T1713C p.C571C 0.932308 0.9236 0.955251 0.9333 0.9074 Uncertain 22_24468184_-->C 22 24468184 24468184 - C indel 326.75 1/1 24 8 0 8 1.0 intronic rs3835312 CABIN1 AU NM_001199281 exon18 c.36338-119insC 0.904153 0.9246 Uncertain 22_24468386_G->A 22 24468386 24468386 G A snp 2867.77 0/1 99 249 134 115 0.46 exonic rs17854874 CABIN1 AU nonsynonymous SNV NM_012295 exon18 c.G2558A p.R853Q 0.0613019 0.1587 0.052514 0.0628 0.1570 0.31 T 1.0 P -1.132 T 0.996 D 0.638 D Pathogenic 22_24472173_C->T 22 24472173 24472173 C T snp 1916.77 0/1 99 172 89 83 0.48 exonic rs58044582 CABIN1 AU synonymous SNV NM_012295 exon19 c.C2688T p.H896H 0.0429313 0.1458 0.010072 0.0166 0.1227 Uncertain 22_24480503_G->A 22 24480503 24480503 G A snp 5326.77 1/1 99 185 1 184 0.99 intronic rs4820581 CABIN1 AU NM_001199281 exon21 c.48566-28G>A 0.903355 0.9236 0.921190 0.9239 0.9063 Uncertain 22_24492061_T->C 22 24492061 24492061 T C snp 1107.77 0/1 99 97 52 45 0.46 intronic rs2236622 CABIN1 AU NM_001199281 exon25 c.60080+16T>C 0.654353 0.6062 0.710288 0.7697 0.6074 Uncertain 22_24551909_T->G 22 24551909 24551909 T G snp 535.77 1/1 39 19 0 19 1.0 intronic rs915595 CABIN1 AU NM_001199281 exon30 c.128402-8458T>G 0.313898 0.3938 Uncertain 22_24561364_A->G 22 24561364 24561364 A G snp 3472.77 1/1 99 105 0 105 1.0 intronic rs7293224 CABIN1 AU NM_001199281 exon31 c.129532-133A>G 0.126597 0.3155 Uncertain 22_24564477_C->T 22 24564477 24564477 C T snp 2293.77 0/1 99 224 128 96 0.43 exonic rs17854875 CABIN1 AU synonymous SNV NM_012295 exon33 c.C5745T p.A1915A 0.0720847 0.1677 0.065187 0.0880 0.2154 0.27 T 1.000 P -1.063 T Likely benign 22_24568014_G->A 22 24568014 24568014 G A snp 150.77 0/1 99 11 5 6 0.55 intronic CABIN1 AU NM_001199281 exon34 c.135998+51G>A Uncertain 22_24573859_T->G 22 24573859 24573859 T G snp 74.77 0/1 99 37 28 9 0.24 intronic CABIN1 AU NM_001199281 exon36 c.141820+74T>G Uncertain 22_24578995_G->A 22 24578995 24578995 G A snp 50.77 0/1 79 24 19 5 0.21 intronic rs62231980 SUSD2 AU NM_019601 exon2 c.1537-29G>A 0.4612 0.4777 Uncertain 22_24579049_G->A 22 24579049 24579049 G A snp 605.77 0/1 99 82 53 29 0.35 exonic rs62231981 SUSD2 AU nonsynonymous SNV NM_019601 exon2 c.G101A p.R34H 0.4841 0.4962 0.06 T 0.907 N -0.860 T 0.772 T 0.133 P Pathogenic 22_24579157_G->T 22 24579157 24579157 G T snp 542.77 0/1 99 149 114 35 0.23 exonic rs200945728 SUSD2 AU nonsynonymous SNV NM_019601 exon2 c.G209T p.G70V 0.4683 0.4934 0.31 T 1 D 0.119 D 1.0 D 0.999 D Pathogenic 22_24579158_A->C 22 24579158 24579158 A C snp 542.77 0/1 99 148 114 34 0.23 exonic rs201628954 SUSD2 AU synonymous SNV NM_019601 exon2 c.A210C p.G70G 0.4700 0.4943 Uncertain 22_24579219_G->A 22 24579219 24579219 G A snp 40.77 0/1 69 76 68 8 0.11 exonic rs399140 SUSD2 AU nonsynonymous SNV NM_019601 exon2 c.G271A p.A91T 0.4495 0.4631 0.61 T 1 N -0.940 T 0.134 T 0.004 T Pathogenic 22_24583879_T->C 22 24583879 24583879 T C snp 4726.77 1/1 99 143 0 143 1.0 intronic rs2070470 SUSD2 AU NM_019601 exon13 c.6439-47T>C 0.312101 0.3988 0.254306 0.2220 0.3986 Uncertain 22_24627910_T->A 22 24627910 24627910 T A snp 76.77 0/1 99 26 21 5 0.19 intronic rs77343908 GGT5 AU NM_001099781 exon8 c.12081-108T>A 0.0758786 0.1677 Uncertain 22_24628928_G->A 22 24628928 24628928 G A snp 219.77 0/1 99 34 20 14 0.41 exonic rs762276 GGT5 AU synonymous SNV NM_004121 exon4 c.C459T p.R153R 0.127596 0.1746 0.099813 0.2228 0.3086 0.01 T 0.001 P -1.016 T 0.01 T 0.005 T Likely benign 22_24640438_-->CA 22 24640438 24640438 - CA indel 261.73 0/1 99 12 4 8 0.67 intronic rs567507078 GGT5 AU NM_001099781 exon12 c.24583-82insCA Uncertain 22_24717850_A->G 22 24717850 24717850 A G snp 5357.77 1/1 99 174 0 174 1.0 exonic rs204710 SPECC1L AD,AO nonsynonymous SNV NM_015330 exon5 c.A902G p.D301G 1 1 1.0000 0.9994 0.86 T 0.008 P -0.947 T 0.0 T 0.0 T Pathogenic 22_24724724_G->A 22 24724724 24724724 G A snp 497.77 0/1 99 31 14 17 0.55 ncRNA_intronic rs5760346 SPECC1L-ADORA2A AU 0.0750799 0.0823 Uncertain 22_24730587_C->T 22 24730587 24730587 C T snp 521.77 1/1 39 18 0 18 1.0 ncRNA_intronic rs5760351 SPECC1L-ADORA2A AU 0.572284 0.5437 0.545825 0.5352 0.5869 Uncertain 22_24761467_G->A 22 24761467 24761467 G A snp 2648.77 1/1 99 94 0 94 1.0 exonic rs204718 SPECC1L AD,AO nonsynonymous SNV NM_015330 exon13 c.G2851A p.V951M 0.9998 0.999 0.9999 0.9991 0.49 T 0.000 P -1.004 T 0.0 T 0.0 T Pathogenic 22_24807414_C->T 22 24807414 24807414 C T snp 145.77 0/1 99 15 9 6 0.4 ncRNA_intronic rs111700821 SPECC1L-ADORA2A AU 0.0593051 0.0794 Uncertain 22_24808435_G->A 22 24808435 24808435 G A snp 148.77 0/1 99 11 5 6 0.55 ncRNA_intronic rs743363 SPECC1L-ADORA2A AU 0.351238 0.4593 Uncertain 22_24837301_T->C 22 24837301 24837301 T C snp 1997.77 0/1 99 127 61 66 0.52 exonic rs5751876 ADORA2A AU synonymous SNV NM_000675 exon3 c.T1083C p.Y361Y 0.442292 0.4722 0.518071 0.5453 0.5103 Uncertain 22_24891292_C->G 22 24891292 24891292 C G snp 555.77 0/1 99 26 10 16 0.62 UTR5 rs2070474 UPB1 AR 0.532748 0.4732 CLINSIG=untested;CLNDBN=not_provided;CLNREVSTAT=no_assertion_provided;CLNACC=RCV000086537.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Uncertain 22_24891637_C->T 22 24891637 24891637 C T snp 355.77 0/1 99 21 9 12 0.57 intronic rs117046446 UPB1 AR NM_016327 exon1 c.104+162C>T 0.0485224 0.0942 Uncertain 22_24896014_A->G 22 24896014 24896014 A G snp 1192.77 0/1 99 99 50 49 0.49 intronic rs2232865 UPB1 AR NM_016327 exon2 c.4703-60A>G 0.072484 0.0903 CLINSIG=untested;CLNDBN=not_provided;CLNREVSTAT=no_assertion_provided;CLNACC=RCV000086539.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Uncertain 22_24898310_C->T 22 24898310 24898310 C T snp 7515.77 1/1 99 250 0 250 1.0 intronic rs2232866 UPB1 AR NM_016327 exon3 c.6810+129C>T 0.555911 0.5546 0.591734 0.5407 0.5998 0.13 T 0.000 P -0.936 T Uncertain 22_24936970_A->G 22 24936970 24936970 A G snp 6546.77 1/1 99 245 0 245 1.0 UTR3 rs9704 GUCD1 AU 0.668131 0.8492 Uncertain 22_24938908_A->G 22 24938908 24938908 A G snp 1280.77 1/1 93 42 0 42 1.0 UTR3 rs8139822 GUCD1 AU 0.68131 0.8492 Uncertain 22_24944053_C->T 22 24944053 24944053 C T snp 2643.77 1/1 99 90 0 90 1.0 intronic rs4822506 GUCD1 AU NM_001284255 exon4 c.5068+12C>T 1 1 1 1 Uncertain 22_24944782_A->G 22 24944782 24944782 A G snp 1845.77 1/1 99 73 0 73 1.0 intronic rs1003580 GUCD1 AU NM_001284255 exon5 c.5911-102A>G 0.681709 0.8522 Uncertain 22_24951086_A->G 22 24951086 24951086 A G snp 99.28 1/1 9 3 0 3 1.0 UTR5 rs11704895 GUCD1 AU 0.936901 0.9127 Uncertain 22_24953479_-->T 22 24953479 24953479 - T indel 365.73 1/1 51 17 0 17 1.0 intronic rs11427005 SNRPD3 AU 0.71865 0.6845 Uncertain 22_24953571_A->G 22 24953571 24953571 A G snp 3833.77 1/1 99 145 1 144 0.99 intronic rs5760472 SNRPD3 AU 0.923722 0.9127 Uncertain 22_24964128_T->C 22 24964128 24964128 T C snp 2291.77 1/1 99 94 0 94 1.0 exonic rs4597 SNRPD3 AU synonymous SNV NM_001278656 exon3 c.T303C p.A101A 0.681709 0.8522 0.721590 0.7827 0.8383 Uncertain 22_24984419_G->A 22 24984419 24984419 G A snp 205.77 0/1 54 10 2 8 0.8 intronic rs115387696 GGT1 AU 0.0215655 0.0198 Uncertain 22_24985737_CC->- 22 24985737 24985738 CC - indel 427.73 0/1 99 20 9 11 0.55 intronic rs398061851 GGT1 AU 0.357827 0.2192 Uncertain 22_24988920_C->T 22 24988920 24988920 C T snp 246.77 0/1 99 18 5 13 0.72 exonic rs737128 LRRC75B AU synonymous SNV NM_207644 exon1 c.G87A p.E29E 0.312101 0.2351 0.4662 0 Uncertain 22_25003821_A->G 22 25003821 25003821 A G snp 37.77 0/1 66 8 6 2 0.25 intronic rs2330834 GGT1 AU Uncertain 22_25003859_G->T 22 25003859 25003859 G T snp 51.77 0/1 80 16 13 3 0.19 intronic rs2330835 GGT1 AU Uncertain 22_25003922_G->A 22 25003922 25003922 G A snp 52.77 0/1 81 25 19 6 0.24 UTR5 rs2010657 GGT1 AU 0.0002 0 Uncertain 22_25003934_G->A 22 25003934 25003934 G A snp 414.77 0/1 85 25 6 19 0.76 UTR5 rs2076999 GGT1 AU 0.41274 0.38 0.3416 0.3992 Uncertain 22_25004008_C->A 22 25004008 25004008 C A snp 56.77 0/1 85 21 14 7 0.33 intronic rs3887791 GGT1 AU Uncertain 22_25024040_G->A 22 25024040 25024040 G A snp 86.77 0/1 28 4 1 3 0.75 intronic rs201572201 GGT1 AU NM_013430 exon14 c.16999-7G>A 0.000155 1.737e-05 0 Uncertain 22_25119284_G->A 22 25119284 25119284 G A snp 104.77 0/1 99 13 8 5 0.38 intronic rs131472 PIWIL3 AU NM_001255975 exon3 c.3784+62G>A 0.289936 0.1617 Uncertain 22_25119300_T->C 22 25119300 25119300 T C snp 37.77 0/1 66 4 2 2 0.5 intronic rs140345 PIWIL3 AU NM_001255975 exon3 c.3784+78T>C 0.305112 0.1776 Uncertain 22_25124095_C->T 22 25124095 25124095 C T snp 983.77 0/1 99 115 73 42 0.37 intronic rs738827 PIWIL3 AU NM_001255975 exon7 c.8705-48C>T 0.648363 0.8254 0.667615 0.6746 0.8127 Uncertain 22_25129964_A->G 22 25129964 25129964 A G snp 173.77 0/1 99 17 10 7 0.41 intronic rs5760612 PIWIL3 AU NM_001255975 exon8 c.14612-86A>G 0.353235 0.3502 Uncertain 22_25145094_C->T 22 25145094 25145094 C T snp 108.77 0/1 99 7 3 4 0.57 intronic rs5760620 PIWIL3 AU NM_001255975 exon10 c.29550+106C>T 0.244209 0.4851 Uncertain 22_25145453_C->T 22 25145453 25145453 C T snp 976.77 0/1 99 97 54 43 0.44 exonic rs1892723 PIWIL3 AU nonsynonymous SNV NM_001008496 exon11 c.G1252A p.V418M 0.926518 0.9405 0.936414 0.8986 0.9369 1 T 0.0 P -1.023 T 0.006 T 0.003 T Pathogenic 22_25145471_A->G 22 25145471 25145471 A G snp 821.77 0/1 99 70 40 30 0.43 exonic rs1892722 PIWIL3 AU nonsynonymous SNV NM_001008496 exon11 c.T1234C p.C412R 0.672923 0.7312 0.617330 0.6206 0.7426 1 T 0.0 P -0.943 T 0.001 T 0.0 T Pathogenic 22_25147423_C->T 22 25147423 25147423 C T snp 497.77 0/1 99 58 35 23 0.4 exonic rs77805371 PIWIL3 AU synonymous SNV NM_001008496 exon9 c.G1020A p.K340K 0.023762 0.1141 0.000231 0.0089 0.1196 Uncertain 22_25151638_T->C 22 25151638 25151638 T C snp 1028.77 0/1 99 72 33 39 0.54 intronic rs6004259 PIWIL3 AU NM_001255975 exon16 c.36312-112T>C 0.441494 0.5556 Uncertain 22_25151890_C->A 22 25151890 25151890 C A snp 221.77 0/1 99 52 39 13 0.25 intronic rs5760623 PIWIL3 AU NM_001255975 exon16 c.36434+18C>A 0.439696 0.5546 0.4070 0.5423 Uncertain 22_25151891_A->C 22 25151891 25151891 A C snp 191.77 0/1 99 52 41 11 0.21 intronic rs5751973 PIWIL3 AU NM_001255975 exon16 c.36434+19A>C 0.438898 0.5526 0.5200 0.6057 Uncertain 22_25158326_A->G 22 25158326 25158326 A G snp 1921.77 0/1 99 152 77 75 0.49 intronic rs5751975 PIWIL3 AU NM_001255975 exon20 c.42926-38A>G 0.442093 0.5466 0.419883 0.4111 0.5476 Uncertain 22_25158597_G->C 22 25158597 25158597 G C snp 513.77 0/1 99 37 19 18 0.49 intronic rs738822 PIWIL3 AU NM_001255975 exon20 c.43050+109G>C 0.440495 0.5466 Uncertain 22_25270521_G->A 22 25270521 25270521 G A snp 553.77 0/1 99 47 23 24 0.51 exonic rs200979083 SGSM1 AU synonymous SNV NM_001039948 exon13 c.G1431A p.T477T 0.00139776 0.001 0.000161 0.0045 0.0020 Uncertain 22_25275523_C->A 22 25275523 25275523 C A snp 903.77 0/1 99 84 43 41 0.49 intronic rs45449992 SGSM1 AU NM_001098497 exon14 c.73201+30C>A 0.0942492 0.1399 0.053943 0.1064 0.1475 Uncertain 22_25282765_T->C 22 25282765 25282765 T C snp 2018.77 1/1 99 63 0 63 1.0 intronic rs139719 SGSM1 AU NM_001098497 exon16 c.80403+70T>C 0.6873 0.624 Uncertain 22_25291337_A->G 22 25291337 25291337 A G snp 410.77 0/1 99 40 21 19 0.47 intronic rs6004349 SGSM1 AU NM_001098497 exon18 c.88966+79A>G 0.0712859 0.0704 Uncertain 22_25297755_G->A 22 25297755 25297755 G A snp 674.77 0/1 99 45 17 28 0.62 intronic rs139738 SGSM1 AU NM_001098497 exon20 c.95507-44G>A 0.344649 0.4702 0.254520 0.2602 0.4718 Uncertain 22_25297965_T->C 22 25297965 25297965 T C snp 257.77 0/1 91 12 3 9 0.75 intronic rs139739 SGSM1 AU NM_001098497 exon20 c.95632+41T>C 0.628994 0.747 0.542938 0.6438 0.7598 Uncertain 22_25308506_C->T 22 25308506 25308506 C T snp 64.77 0/1 93 7 4 3 0.43 intronic rs139764 SGSM1 AU NM_001098497 exon22 c.106317-103C>T 0.30012 0.5446 Uncertain 22_25315753_G->A 22 25315753 25315753 G A snp 250.77 0/1 99 18 10 8 0.44 intronic rs5752018 SGSM1 AU NM_001098497 exon24 c.113500-39G>A 0.259585 0.5526 0.188060 0.2556 0.5737 Uncertain 22_25320371_C->T 22 25320371 25320371 C T snp 73.78 0/1 24 4 1 3 0.75 UTR3 rs5760738 SGSM1 AU 0.263978 0.5635 Uncertain 22_25334037_-->TCATTCAT 22 25334037 25334037 - TCATTCAT indel 5003.73 0/1 99 144 89 55 0.38 intronic rs34070080 TMEM211 AU NM_001001663 exon2 c.2816-78insTCATTCAT Uncertain 22_25424548_C->T 22 25424548 25424548 C T snp 1516.77 0/1 99 130 73 57 0.44 exonic rs201788906 KIAA1671 AU synonymous SNV NM_001145206 exon1 c.C582T p.P194P Uncertain 22_25424579_C->A 22 25424579 25424579 C A snp 1514.77 0/1 99 130 69 61 0.47 exonic rs117847071 KIAA1671 AU nonsynonymous SNV NM_001145206 exon1 c.C613A p.P205T 1 T 0.0 P -0.955 T 0.001 T 0.008 T Pathogenic 22_25425282_A->G 22 25425282 25425282 A G snp 2450.77 0/1 99 242 136 106 0.44 exonic rs17667531 KIAA1671 AU nonsynonymous SNV NM_001145206 exon1 c.A1316G p.K439R 0.6 T 0.011 P -1.022 T 0.989 D 0.801 D Pathogenic 22_25425403_T->C 22 25425403 25425403 T C snp 1736.77 0/1 99 155 81 74 0.48 exonic rs11704674 KIAA1671 AU synonymous SNV NM_001145206 exon1 c.T1437C p.V479V Uncertain 22_25425439_A->C 22 25425439 25425439 A C snp 1493.77 0/1 99 118 55 63 0.53 exonic rs114054494 KIAA1671 AU synonymous SNV NM_001145206 exon1 c.A1473C p.S491S Uncertain 22_25428768_A->G 22 25428768 25428768 A G snp 410.77 0/1 99 22 8 14 0.64 intronic rs116806726 KIAA1671 AU NM_001145206 exon2 c.4697+105A>G Uncertain 22_25436904_T->C 22 25436904 25436904 T C snp 1995.77 0/1 99 187 103 84 0.45 exonic rs1040421 KIAA1671 AU synonymous SNV NM_001145206 exon3 c.T3807C p.N1269N Uncertain 22_25437634_A->G 22 25437634 25437634 A G snp 225.77 0/1 99 12 5 7 0.58 intronic rs114534563 KIAA1671 AU NM_001145206 exon3 c.13526+142A>G Uncertain 22_25445405_G->T 22 25445405 25445405 G T snp 377.77 0/1 99 30 14 16 0.53 intronic rs114171339 KIAA1671 AU NM_001145206 exon4 c.21365+74G>T 0.214058 0.122 Uncertain 22_25577554_G->A 22 25577554 25577554 G A snp 1005.77 0/1 99 82 44 38 0.46 intronic rs9612886 KIAA1671 AU NM_001145206 exon8 c.153699-111G>A 0.368211 0.499 Uncertain 22_25577688_G->A 22 25577688 25577688 G A snp 2871.77 0/1 99 247 119 128 0.52 exonic rs763279 KIAA1671 AU synonymous SNV NM_001145206 exon8 c.G5097A p.E1699E 0.359824 0.496 0.313184 0.3114 0.5032 Uncertain 22_25577733_T->C 22 25577733 25577733 T C snp 2352.77 0/1 99 192 89 103 0.54 exonic rs9612887 KIAA1671 AU synonymous SNV NM_001145206 exon8 c.T5142C p.P1714P 0.53155 0.7659 0.443057 0.4495 0.7622 Uncertain 22_25577846_T->C 22 25577846 25577846 T C snp 329.77 0/1 99 20 10 10 0.5 intronic rs6004466 KIAA1671 AU NM_001145206 exon8 c.153824+56T>C 0.434704 0.6359 Uncertain 22_25586564_A->G 22 25586564 25586564 A G snp 429.77 0/1 99 38 22 16 0.42 intronic rs713707 KIAA1671 AU NM_001145206 exon10 c.162702-104A>G 0.370008 0.501 Uncertain 22_25597331_T->C 22 25597331 25597331 T C snp 716.77 0/1 99 65 35 30 0.46 intronic rs2269672 CRYBB3 AR,AD 0.654952 0.7034 0.611641 0.5660 0.6820 Uncertain 22_25601196_C->G 22 25601196 25601196 C G snp 6995.77 1/1 99 249 0 249 1.0 exonic rs9608378 CRYBB3 AR,AD nonsynonymous SNV NM_004076 exon5 c.C337G p.H113D 0.664137 0.9296 0.575427 0.6558 0.9282 0.59 T 1.0 P -0.963 T 0.0 T 0.0 T Pathogenic 22_25617436_T->A 22 25617436 25617436 T A snp 2130.77 0/1 99 174 81 93 0.53 exonic rs117457580 CRYBB2 AU nonsynonymous SNV NM_000496 exon2 c.T40A p.S14T 0.013778 0.0675 0.000154 0.0053 0.0715 0.48 T 0.999 N -1.098 T 0.001 T 0.001 T Pathogenic 22_25624049_G->A 22 25624049 25624049 G A snp 1444.77 1/1 99 44 0 44 1.0 intronic rs5760923 CRYBB2 AU NM_000496 exon4 c.6556+97G>A 0.77496 0.9633 Uncertain 22_25625554_G->A 22 25625554 25625554 G A snp 3087.77 1/1 99 113 0 113 1.0 intronic rs4049505 CRYBB2 AU NM_000496 exon5 c.8149+9G>A 0.791933 0.9633 0.708212 0.7242 0.9535 Uncertain 22_25627604_G->A 22 25627604 25627604 G A snp 2098.77 0/1 99 192 102 90 0.47 exonic rs8140949 CRYBB2 AU synonymous SNV NM_000496 exon6 c.G483A p.G161G 0.330272 0.4325 0.233277 0.2772 0.4268 Uncertain 22_25713904_G->C 22 25713904 25713904 G C snp 44.77 0/1 33 3 1 2 0.67 upstream rs133153 IGLL3P AU 0.761581 0.7113 Uncertain 22_25713905_G->A 22 25713905 25713905 G A snp 45.77 0/1 33 3 1 2 0.67 upstream rs133154 IGLL3P AU 0.761581 0.7113 Uncertain 22_25713908_C->A 22 25713908 25713908 C A snp 45.77 0/1 33 3 1 2 0.67 upstream rs133155 IGLL3P AU 0.761581 0.7113 Uncertain 22_25713933_A->G 22 25713933 25713933 A G snp 427.77 1/1 33 11 0 11 1.0 upstream rs133156 IGLL3P AU 0.85024 0.9067 Uncertain 22_25713967_A->G 22 25713967 25713967 A G snp 403.77 0/1 99 33 20 13 0.39 upstream rs2331024 IGLL3P AU 0.0866613 0.2063 0.023836 0.0788 0.2960 Uncertain 22_25714110_T->C 22 25714110 25714110 T C snp 2671.77 0/1 99 241 127 114 0.47 upstream rs2064141 IGLL3P AU 0.374401 0.0734 0.526158 0.4457 0.0771 Uncertain 22_25714113_A->G 22 25714113 25714113 A G snp 2675.77 0/1 99 245 129 116 0.47 upstream rs2330574 IGLL3P AU 0.374201 0.0734 0.523462 0.4450 0.0770 Uncertain 22_25714218_A->T 22 25714218 25714218 A T snp 1691.77 0/1 99 173 95 78 0.45 upstream rs2072869 IGLL3P AU 0.397364 0.4107 0.444632 0.4971 0.4236 Uncertain 22_25716068_C->G 22 25716068 25716068 C G snp 399.77 0/1 99 41 25 16 0.39 ncRNA_exonic rs133162 IGLL3P AU 0.986621 0.9911 0.976689 0.9736 0.9956 Uncertain 22_25750814_-->AGGGCA 22 25750814 25750814 - AGGGCA indel 3457.73 0/1 99 99 45 54 0.55 intronic rs141812512 LRP5L AU NM_001135772 exon2 c.3014+35insAGGGCA 0.434553 0.4649 0.3874 Uncertain 22_25750873_G->A 22 25750873 25750873 G A snp 129.77 0/1 99 15 10 5 0.33 intronic rs133189 LRP5L AU NM_001135772 exon2 c.3014+94G>A 0.836661 0.8264 Uncertain 22_25753231_G->A 22 25753231 25753231 G A snp 905.77 0/1 99 66 36 30 0.45 exonic rs133194 LRP5L AU synonymous SNV NM_182492 exon2 c.C429T p.D143D 0.419129 0.4097 0.456468 0.4785 0.4028 Uncertain 22_26157144_A->G 22 26157144 26157144 A G snp 1873.77 0/1 99 129 51 78 0.6 intronic rs17623980 MYO18B AR NM_032608 exon2 c.39+46A>G 0.180312 0.13 0.207600 0.1919 0.1235 Uncertain 22_26158910_C->G 22 26158910 26158910 C G snp 2001.77 0/1 99 164 81 83 0.51 intronic rs2331158 MYO18B AR NM_032608 exon3 c.2138-287C>G 0.422524 0.6181 Uncertain 22_26159129_-->TT 22 26159129 26159129 - TT indel 1265.73 0/1 99 66 35 31 0.47 intronic rs133884 MYO18B AR NM_032608 exon3 c.2138-68insTT 0.238019 0.1845 Uncertain 22_26159289_G->A 22 26159289 26159289 G A snp 1683.77 1/1 99 66 1 65 0.98 exonic rs133885 MYO18B AR nonsynonymous SNV NM_032608 exon3 c.G131A p.G44E 0.701677 0.8185 0.570907 0.5433 0.8217 1 T 0.002 P -0.942 T 0.0 T 0.0 T ID=CM065332;DIS=Colorectal cancer, increased risk, association with;TAG=DP;PUB=17000706 DP Pathogenic 22_26159313_C->G 22 26159313 26159313 C G snp 491.77 0/1 99 60 37 23 0.38 exonic MYO18B AR nonsynonymous SNV NM_032608 exon3 c.C155G p.A52G 0.02 T 0.995 N 0.062 D 0.995 D 0.886 D Pathogenic 22_26159370_AAG->- 22 26159370 26159372 AAG - indel 739.73 0/1 99 40 23 17 0.42 intronic rs141996383 MYO18B AR NM_032608 exon3 c.2297+14_2297+16delAAG 0.038738 0.129 0.005138 0.0232 0.1251 Uncertain 22_26163996_T->C 22 26163996 26163996 T C snp 1662.77 1/1 99 52 0 52 1.0 intronic rs133901 MYO18B AR NM_032608 exon4 c.7022-85T>C 0.510383 0.5198 Uncertain 22_26164079_C->T 22 26164079 26164079 C T snp 3775.77 1/1 99 137 2 135 0.99 splicing rs133902 MYO18B AR NM_032608 exon4 c.7022-2C>T 0.697883 0.8254 0.570973 0.5407 0.8243 Pathogenic 22_26166011_C->A 22 26166011 26166011 C A snp 415.77 0/1 99 26 8 18 0.69 intronic rs133903 MYO18B AR NM_032608 exon5 c.9017-65C>A 0.635583 0.8641 0.503723 0.4893 0.8676 Uncertain 22_26166900_G->C 22 26166900 26166900 G C snp 2189.77 1/1 99 80 0 80 1.0 exonic rs3859866 MYO18B AR nonsynonymous SNV NM_032608 exon6 c.G1641C p.W547C 0.938498 0.8869 0.977635 0.9579 0.9023 0.14 T 0.913 P -0.952 T 0.0 T 0.0 T Pathogenic 22_26167085_T->C 22 26167085 26167085 T C snp 48.74 1/1 6 2 0 2 1.0 intronic rs713816 MYO18B AR NM_032608 exon6 c.9892+134T>C 0.5627 0.7768 Uncertain 22_26173661_T->C 22 26173661 26173661 T C snp 1842.77 1/1 99 70 0 70 1.0 exonic rs5761170 MYO18B AR nonsynonymous SNV NM_032608 exon8 c.T1981C p.W661R 0.932508 0.8849 0.971424 0.9647 0.8795 1 T 0.002 P -0.944 T 0.0 T 0.0 T Pathogenic 22_26177920_G->A 22 26177920 26177920 G A snp 200.77 0/1 99 12 4 8 0.67 intronic rs5752205 MYO18B AR NM_032608 exon10 c.20742+119G>A 0.0317492 0.0417 Uncertain 22_26193982_C->G 22 26193982 26193982 C G snp 874.77 0/1 99 84 43 41 0.49 exonic rs738642 MYO18B AR synonymous SNV NM_032608 exon12 c.C2439G p.L813L 0.684305 0.879 0.648248 0.7296 0.8938 Uncertain 22_26219412_T->C 22 26219412 26219412 T C snp 2238.77 1/1 99 66 0 66 1.0 intronic rs5752226 MYO18B AR NM_032608 exon13 c.62412-59T>C 0.996006 0.999 Uncertain 22_26222247_T->C 22 26222247 26222247 T C snp 648.77 1/1 48 22 0 22 1.0 intronic rs8143030 MYO18B AR NM_032608 exon14 c.65316-128T>C 0.314497 0.3294 Uncertain 22_26224704_T->C 22 26224704 26224704 T C snp 2075.77 0/1 99 211 121 90 0.43 intronic rs41281575 MYO18B AR NM_032608 exon15 c.67683-38T>C 0.102835 0.0387 0.076744 0.0389 0.0454 Uncertain 22_26228758_A->- 22 26228758 26228758 A - indel 1443.73 1/1 99 43 0 43 1.0 intronic rs35045598 MYO18B AR NM_032608 exon16 c.71824-125delA 0.502796 0.3929 Uncertain 22_26228797_A->G 22 26228797 26228797 A G snp 2458.77 1/1 99 90 0 90 1.0 intronic rs3859879 MYO18B AR NM_032608 exon16 c.71824-86A>G 0.917532 0.999 Uncertain 22_26228805_C->T 22 26228805 26228805 C T snp 1155.77 0/1 99 94 47 47 0.5 intronic rs11090413 MYO18B AR NM_032608 exon16 c.71824-78C>T 0.181709 0.1052 Uncertain 22_26239850_C->A 22 26239850 26239850 C A snp 3278.77 1/1 99 111 0 111 1.0 exonic rs5761268 MYO18B AR nonsynonymous SNV NM_032608 exon18 c.C3357A p.H1119Q 0.723442 0.998 0.642054 0.7340 0.9967 1 T 0.000 P -0.932 T 0.0 T 0.0 T Pathogenic 22_26239906_A->G 22 26239906 26239906 A G snp 1572.77 1/1 99 45 0 45 1.0 intronic rs5761269 MYO18B AR NM_032608 exon18 c.82802+45A>G 0.734026 0.998 0.652953 0.7313 0.9964 Uncertain 22_26239950_A->G 22 26239950 26239950 A G snp 425.77 1/1 33 11 0 11 1.0 intronic rs5761271 MYO18B AR NM_032608 exon18 c.82802+89A>G 0.594449 0.7599 Uncertain 22_26241897_C->A 22 26241897 26241897 C A snp 46.77 0/1 33 3 1 2 0.67 intronic rs2072010 MYO18B AR NM_032608 exon19 c.85007-169C>A 0.165935 0.0923 Uncertain 22_26241928_G->A 22 26241928 26241928 G A snp 40.77 0/1 69 5 3 2 0.4 intronic rs2072011 MYO18B AR NM_032608 exon19 c.85007-138G>A 0.41893 0.6667 Uncertain 22_26241994_T->C 22 26241994 26241994 T C snp 190.77 0/1 99 20 11 9 0.45 intronic rs2072012 MYO18B AR NM_032608 exon19 c.85007-72T>C 0.420128 0.6667 Uncertain 22_26247456_G->A 22 26247456 26247456 G A snp 1809.77 0/1 99 137 56 81 0.59 exonic rs5996988 MYO18B AR synonymous SNV NM_032608 exon21 c.G3795A p.G1265G 0.242013 0.0833 0.317898 0.3586 0.1268 Uncertain 22_26247607_C->T 22 26247607 26247607 C T snp 1442.77 0/1 99 85 26 59 0.69 intronic rs6004798 MYO18B AR NM_032608 exon21 c.90487+61C>T 0.245807 0.0833 Uncertain 22_26273789_T->C 22 26273789 26273789 T C snp 901.77 0/1 99 59 25 34 0.58 intronic rs5761293 MYO18B AR NM_032608 exon25 c.116866-136T>C 0.378395 0.5079 Uncertain 22_26273834_A->C 22 26273834 26273834 A C snp 1306.77 0/1 99 115 60 55 0.48 intronic rs4822666 MYO18B AR NM_032608 exon25 c.116866-91A>C 0.429113 0.4097 Uncertain 22_26273836_G->T 22 26273836 26273836 G T snp 1334.77 0/1 99 118 61 57 0.48 intronic rs4822667 MYO18B AR NM_032608 exon25 c.116866-89G>T 0.428714 0.4087 Uncertain 22_26273850_G->C 22 26273850 26273850 G C snp 3601.77 1/1 99 136 1 135 0.99 intronic rs695428 MYO18B AR NM_032608 exon25 c.116866-75G>C 0.870208 0.999 Uncertain 22_26273889_C->T 22 26273889 26273889 C T snp 1876.77 0/1 99 158 77 81 0.51 intronic rs5752240 MYO18B AR NM_032608 exon25 c.116866-36C>T 0.375799 0.505 0.337763 0.3564 0.5480 Uncertain 22_26273893_G->C 22 26273893 26273893 G C snp 1734.77 0/1 99 161 81 80 0.5 intronic rs4822668 MYO18B AR NM_032608 exon25 c.116866-32G>C 0.429912 0.4117 0.408408 0.4521 0.4420 Uncertain 22_26286738_T->A 22 26286738 26286738 T A snp 2858.77 0/1 99 249 129 120 0.48 exonic rs33928909 MYO18B AR nonsynonymous SNV NM_032608 exon26 c.T4330A p.S1444T 0.0411342 0.0278 0.035586 0.0263 0.0386 1 T 1.000 N -0.970 T 0.0 T 0.001 T Pathogenic 22_26294124_T->A 22 26294124 26294124 T A snp 245.77 0/1 57 11 2 9 0.82 intronic rs2072004 MYO18B AR NM_032608 exon29 c.137214-149T>A 0.199481 0.2966 Uncertain 22_26294513_A->G 22 26294513 26294513 A G snp 317.77 0/1 99 16 5 11 0.69 intronic rs2066935 MYO18B AR NM_032608 exon29 c.137369+85A>G 0.200679 0.2976 Uncertain 22_26298754_G->A 22 26298754 26298754 G A snp 251.77 0/1 99 36 23 13 0.36 intronic rs2072016 MYO18B AR NM_032608 exon30 c.141644+51G>A 0.84405 0.7599 0.935346 Uncertain 22_26298874_T->C 22 26298874 26298874 T C snp 71.77 0/1 99 12 9 3 0.25 intronic rs2072017 MYO18B AR NM_032608 exon30 c.141644+171T>C 0.845447 0.7619 Uncertain 22_26317155_A->G 22 26317155 26317155 A G snp 1187.77 0/1 99 120 69 51 0.42 intronic rs739284 MYO18B AR NM_032608 exon34 c.160164-68A>G 0.841653 0.7629 Uncertain 22_26342056_C->T 22 26342056 26342056 C T snp 264.8 1/1 21 7 0 7 1.0 intronic rs386458877 MYO18B AR NM_032608 exon35 c.185043-46C>T 0.86222 0.6994 0.935150 0.8998 0.7054 Uncertain 22_26343805_A->G 22 26343805 26343805 A G snp 1165.77 1/1 84 42 0 42 1.0 intronic rs2072007 MYO18B AR NM_032608 exon36 c.186735+11A>G 0.711861 0.4583 0.874940 0.8055 0.4586 Uncertain 22_26344024_C->T 22 26344024 26344024 C T snp 54.74 1/1 6 2 0 2 1.0 intronic rs2072008 MYO18B AR NM_032608 exon36 c.186735+230C>T 0.64397 0.4196 Uncertain 22_26346312_T->- 22 26346312 26346312 T - indel 1172.73 1/1 52 55 4 51 0.93 intronic rs10600754 MYO18B AR NM_032608 exon37 c.189273-20delT 0.514776 0.2004 0.6462 0.2917 Uncertain 22_26346484_-->TGTGTGTGTATGTGTGTGTG 22 26346484 26346484 - TGTGTGTGTATGTGTGTGTG indel 2262.73 1/1 66 24 0 24 1.0 intronic rs373462917 MYO18B AR NM_032608 exon37 c.189357+68insTGTGTGTGTATGTGTGTGTG Uncertain 22_26761183_A->G 22 26761183 26761183 A G snp 141.03 1/1 12 5 0 5 1.0 intronic rs4822713 SEZ6L AU NM_001184774 exon13 c.195702-154A>G 0.819888 0.9663 Uncertain 22_26769234_T->G 22 26769234 26769234 T G snp 1333.77 1/1 99 37 0 37 1.0 intronic rs1076660 SEZ6L AU NM_001184773 exon14 c.203781-182T>G 0.790535 0.9841 Uncertain 22_26769464_-->A 22 26769464 26769464 - A indel 163.75 1/1 24 16 0 16 1.0 intronic rs397962450 SEZ6L AU NM_001184773 exon14 c.203814+15insA 0.4377 0.5585 0.4387 0.5232 Uncertain 22_26777795_A->T 22 26777795 26777795 A T snp 1040.77 1/1 78 33 0 33 1.0 UTR3 rs482902 SEZ6L AU 0.790935 0.9851 Uncertain 22_26830478_A->G 22 26830478 26830478 A G snp 3343.77 1/1 99 123 0 123 1.0 intronic rs3788398 ASPHD2 AU NM_020437 exon2 c.886+11A>G 0.866014 0.8651 0.910118 0.9054 0.8626 Uncertain 22_26853905_C->A 22 26853905 26853905 C A snp 1649.77 1/1 99 55 0 55 1.0 exonic rs1894704 HPS4 AU nonsynonymous SNV NM_022081 exon13 c.G1875T p.Q625H 0.827276 0.8046 0.868522 0.8819 0.7960 0.26 T 0.147 P -1.052 T 0.915 T 0.589 D CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000150818.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 22_26853980_T->C 22 26853980 26853980 T C snp 525.77 1/1 42 17 0 17 1.0 intronic rs1894705 HPS4 AU NM_022081 exon2 c.4735+47T>C 0.852835 0.8641 0.888308 0.9016 0.8610 Uncertain 22_26854441_G->A 22 26854441 26854441 G A snp 5143.77 1/1 99 190 0 190 1.0 exonic rs1894706 HPS4 AU nonsynonymous SNV NM_022081 exon12 c.C1816T p.H606Y 0.827476 0.8046 0.868907 0.8818 0.7952 0.08 T 0.988 P -1.099 T 1.0 D 0.999 D CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000150819.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 22_26854682_T->C 22 26854682 26854682 T C snp 251.8 1/1 21 8 0 8 1.0 intronic rs4822722 HPS4 AU NM_022081 exon3 c.5345+139T>C 0.827476 0.8046 Uncertain 22_26859942_C->T 22 26859942 26859942 C T snp 3757.77 1/1 99 143 0 143 1.0 exonic rs5752330 HPS4 AU nonsynonymous SNV NM_022081 exon11 c.G1654A p.V552M 0.793131 0.8026 0.820467 0.8488 0.7943 0.08 T 0.022 P -1.065 T 0.993 D 0.662 D CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000150820.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 22_26861545_A->G 22 26861545 26861545 A G snp 2074.77 1/1 99 70 1 69 0.99 intronic rs3213583 HPS4 AU NM_022081 exon5 c.12319+28A>G 0.81849 0.8621 0.839228 0.8674 0.8606 Uncertain 22_26862153_C->A 22 26862153 26862153 C A snp 3360.77 1/1 99 119 0 119 1.0 intronic rs739289 HPS4 AU NM_022081 exon6 c.12993-38C>A 0.790735 0.8026 0.8487 0.7938 Uncertain 22_26862212_T->C 22 26862212 26862212 T C snp 2292.77 1/1 99 83 0 83 1.0 exonic rs713998 HPS4 AU nonsynonymous SNV NM_022081 exon9 c.A686G p.E229G 0.793131 0.8026 0.820544 0.8487 0.7934 0.51 T 0.0 P -0.958 T 0.0 T 0.0 T CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000150822.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 22_26864658_A->G 22 26864658 26864658 A G snp 3019.77 1/1 99 111 0 111 1.0 intronic rs739290 HPS4 AU NM_022081 exon7 c.15391+69A>G 0.813898 0.8026 Uncertain 22_26877539_C->T 22 26877539 26877539 C T snp 1195.77 1/1 87 39 0 39 1.0 intronic rs739291 HPS4 AU NM_022081 exon13 c.28489-148C>T 0.790136 0.8016 Uncertain 22_26879823_C->A 22 26879823 26879823 C A snp 149.03 1/1 12 7 0 7 1.0 UTR5 rs71322613 HPS4 AU 0.789537 0.8016 0.8313 0.85 Uncertain 22_26879947_GAGGCGGCGCCCCGGGGGAGA->- 22 26879947 26879967 GAGGCGGCGCCCCGGGGGAGA - indel 5245.73 1/1 81 36 0 36 1.0 exonic rs576877626 SRRD AU nonframeshift deletion NM_001013694 exon1 c.91_111del p.31_37del 0.296053 0.7772 0.7273 Uncertain 22_26882142_G->A 22 26882142 26882142 G A snp 731.77 1/1 54 25 0 25 1.0 intronic rs5761561 SRRD AU NM_001013694 exon2 c.2173+113G>A 0.422324 0.4931 Uncertain 22_26884039_G->A 22 26884039 26884039 G A snp 3013.77 1/1 99 105 0 105 1.0 exonic rs4820682 SRRD AU nonsynonymous SNV NM_001013694 exon3 c.G295A p.A99T 0.808307 0.8085 0.821609 0.8686 0.7927 0.59 T 0.0 P -0.958 T 0.001 T 0.002 T Pathogenic 22_26886954_T->- 22 26886954 26886954 T - indel 2046.73 1/1 99 71 1 70 0.99 intronic rs34878449 SRRD AU NM_001013694 exon6 c.7134-36delT 0.80611 0.8085 0.8700 0.8052 Uncertain 22_26887099_T->A 22 26887099 26887099 T A snp 4143.77 1/1 99 167 0 167 1.0 intronic rs4820683 SRRD AU NM_001013694 exon6 c.7180+63T>A 0.984425 1 0.966710 Uncertain 22_26887829_A->G 22 26887829 26887829 A G snp 385.77 1/1 30 11 0 11 1.0 UTR3 rs1045523 SRRD AU 0.83746 0.8849 Uncertain 22_26891823_C->G 22 26891823 26891823 C G snp 56.74 1/1 6 2 0 2 1.0 intronic rs4822729 TFIP11 AU NM_012143 exon4 c.4060-215C>G 0.41873 0.5069 Uncertain 22_26894985_C->T 22 26894985 26894985 C T snp 4398.77 1/1 99 166 1 165 0.99 intronic rs2187956 TFIP11 AU NM_012143 exon6 c.6963+44C>T 0.78155 0.8264 0.784253 0.8560 0.8178 Uncertain 22_26895061_G->A 22 26895061 26895061 G A snp 3970.77 1/1 99 136 0 136 1.0 intronic rs2157586 TFIP11 AU NM_012143 exon7 c.7091-8G>A 0.92492 0.877 0.951638 0.9346 0.8706 Uncertain 22_26895337_G->A 22 26895337 26895337 G A snp 7642.77 1/1 99 250 1 249 1.0 exonic rs1008530 TFIP11 AU synonymous SNV NM_012143 exon9 c.C1062T p.H354H 0.777556 0.8254 0.778871 0.8550 0.8162 Uncertain 22_26898242_A->G 22 26898242 26898242 A G snp 216.84 1/1 18 6 0 6 1.0 intronic rs713900 TFIP11 AU NM_012143 exon8 c.10040+224A>G 0.927915 0.8889 Uncertain 22_26899474_T->C 22 26899474 26899474 T C snp 464.78 0/1 0 16 1 15 0.94 intronic rs134136 TFIP11 AU NM_012143 exon9 c.11653-157T>C 0.653954 0.6746 Uncertain 22_26902835_G->A 22 26902835 26902835 G A snp 1881.77 0/1 99 155 76 79 0.51 exonic rs113203306 TFIP11 AU nonsynonymous SNV NM_012143 exon5 c.C269T p.A90V 0.000399361 0.002 0.000154 8.241e-05 0.0008 0.19 T 1.000 D -0.817 T 0.999 D 0.921 D Pathogenic 22_26932150_G->A 22 26932150 26932150 G A snp 1650.77 0/1 99 138 66 72 0.52 intronic rs3752523 TPST2 AU NM_003595 exon4 c.8067-103G>A 0.397764 0.378 0.5374 0.4630 0 D 0.0 P -0.936 T Uncertain 22_26937327_C->G 22 26937327 26937327 C G snp 2796.77 1/1 99 94 0 94 1.0 exonic rs4822735 TPST2 AU synonymous SNV NM_001008566 exon3 c.G270C p.A90A 0.914537 1 0.934150 0.9216 1 Uncertain 22_26951185_C->G 22 26951185 26951185 C G snp 594.77 0/1 99 61 35 26 0.43 ncRNA_exonic rs4822739 MIR548J AU 0.141174 0.2004 0.080971 0.0874 0.2044 Uncertain 22_27004089_A->C 22 27004089 27004089 A C snp 2230.77 1/1 99 76 0 76 1.0 intronic rs5761626 CRYBB1 AU NM_001887 exon3 c.8532+104A>C 0.921326 0.994 Uncertain 22_27009128_G->T 22 27009128 27009128 G T snp 771.77 0/1 99 77 39 38 0.49 intronic rs4822751 CRYBB1 AU NM_001887 exon4 c.12701+974G>T 0.210463 0.3115 Uncertain 22_27019128_C->T 22 27019128 27019128 C T snp 131.77 0/1 99 23 17 6 0.26 intronic rs2071860 CRYBA4 AU NM_001886 exon3 c.637-69C>T 0.35004 0.378 Uncertain 22_27021425_A->G 22 27021425 27021425 A G snp 1604.77 0/1 99 141 70 71 0.5 intronic rs4276 CRYBA4 AU NM_001886 exon4 c.2884-19A>G 0.588259 0.6359 0.571275 0.5149 0.6541 Uncertain 22_27021457_T->C 22 27021457 27021457 T C snp 4585.77 1/1 99 168 0 168 1.0 exonic rs5761637 CRYBA4 AU synonymous SNV NM_001886 exon4 c.T171C p.F57F 0.923722 0.994 0.873366 0.8927 0.9959 Uncertain 22_27456410_A->G 22 27456410 27456410 A G snp 99.28 1/1 9 3 0 3 1.0 intergenic rs61744687 LINC01422 AU 0.320887 0.494 Uncertain 22_27456420_T->C 22 27456420 27456420 T C snp 99.28 1/1 9 3 0 3 1.0 intergenic rs55944208 LINC01422 AU 0.320887 0.494 Uncertain 22_28256019_A->G 22 28256019 28256019 A G snp 1062.77 1/1 78 30 0 30 1.0 intronic rs12160891 PITPNB AU NM_001284278 exon4 c.5239-99A>G 0.135783 0.1756 Uncertain 22_28293980_G->C 22 28293980 28293980 G C snp 1434.77 1/1 99 48 0 48 1.0 intronic rs738451 PITPNB AU NM_001284278 exon9 c.43001+100G>C 0.632987 0.6667 Uncertain 22_28315268_C->T 22 28315268 28315268 C T snp 929.77 1/1 69 26 0 26 1.0 UTR5 rs28372773 PITPNB AU 0.118011 0.1508 Uncertain 22_28316591_-->G 22 28316591 28316591 - G indel 1955.73 1/1 99 50 0 50 1.0 ncRNA_exonic rs75321888 MIR3199-1 AU 0.0970447 0.1478 1 1 Uncertain 22_28378472_A->G 22 28378472 28378472 A G snp 5099.77 1/1 99 178 0 178 1.0 exonic rs5762430 TTC28 AU synonymous SNV NM_001145418 exon23 c.T7183C p.L2395L 0.260982 0.2887 0.218134 0.2653 0.3071 Uncertain 22_28386620_A->G 22 28386620 28386620 A G snp 90.28 1/1 9 3 0 3 1.0 ncRNA_intronic rs470100 TTC28-AS1 AU 0.64357 0.6696 Uncertain 22_28426128_T->C 22 28426128 28426128 T C snp 185.9 1/1 15 7 0 7 1.0 intronic rs2073029 TTC28 AU NM_001145418 exon11 c.48005-85T>C 0.211062 0.3591 Uncertain 22_28559120_G->C 22 28559120 28559120 G C snp 2269.77 1/1 99 79 0 79 1.0 exonic rs17486417 TTC28 AU synonymous SNV NM_001145418 exon6 c.C1401G p.L467L 0.135383 0.1736 0.123960 0.1601 0.1704 Uncertain 22_28693496_T->C 22 28693496 28693496 T C snp 1246.77 1/1 90 39 0 39 1.0 intronic rs5762549 TTC28 AU NM_001145418 exon20 c.315359-71T>C 0.209265 0.3383 Uncertain 22_29090975_C->G 22 29090975 29090975 C G snp 54.74 1/1 6 3 0 3 1.0 intronic rs17886236 CHEK2 AU,AD NM_145862 exon4 c.7230-139C>G 0.0147764 0.0704 Uncertain 22_29091037_G->C 22 29091037 29091037 G C snp 985.77 1/1 72 33 0 33 1.0 intronic rs5762749 CHEK2 AU,AD NM_145862 exon4 c.7230-77G>C 0.614617 0.622 Uncertain 22_29099754_T->C 22 29099754 29099754 T C snp 343.78 1/1 27 10 0 10 1.0 intronic rs2267130 CHEK2 AU,AD NM_145862 exon7 c.15670+200T>C 0.314696 0.2877 Uncertain 22_29104941_AAA->- 22 29104941 29104943 AAA - indel 1912.73 1/1 99 58 2 56 0.97 intronic rs765900713 CHEK2 AU,AD NM_145862 exon8 c.22109-1052_22109-1050delAAA 0.0157 0.0159 Uncertain 22_29104955_A->C 22 29104955 29104955 A C snp 2464.77 1/1 99 100 6 94 0.94 intronic rs5762756 CHEK2 AU,AD NM_145862 exon8 c.22109-1038A>C 0.574481 0.6835 0.5926 0.6571 Uncertain 22_29104959_A->C 22 29104959 29104959 A C snp 2689.77 1/1 99 108 5 103 0.95 intronic rs5762757 CHEK2 AU,AD NM_145862 exon8 c.22109-1034A>C 0.584265 0.6935 0.5939 0.6884 Uncertain 22_29137870_C->T 22 29137870 29137870 C T snp 117.03 1/1 12 4 0 4 1.0 upstream rs2236141 CHEK2 AU,AD 0.139377 0.1815 ID=CR104227;DIS=Lung cancer, reduced risk, association with;TAG=DFP;PUB=20462940 DFP Uncertain 22_29140823_A->C 22 29140823 29140823 A C snp 139.03 1/1 12 4 0 4 1.0 intronic rs5752783 HSCB AU NM_172002 exon3 c.2609+131A>C 0.579872 0.7788 Uncertain 22_29152965_G->A 22 29152965 29152965 G A snp 1018.77 1/1 72 40 0 40 1.0 intronic rs5752790 HSCB AU NM_172002 exon6 c.14982-100G>A 0.157348 0.1806 Uncertain 22_29168755_T->C 22 29168755 29168755 T C snp 59.74 1/1 6 3 0 3 1.0 UTR5 rs11556025 CCDC117 AU 0.509585 0.6528 Uncertain 22_29169005_GAGTGC->- 22 29169005 29169010 GAGTGC - indel 397.73 0/1 99 10 4 6 0.6 exonic CCDC117 AU nonframeshift deletion NM_001284263 exon1 c.168_173del p.56_58del Uncertain 22_29179739_C->A 22 29179739 29179739 C A snp 208.84 1/1 18 7 0 7 1.0 intronic rs2347447 CCDC117 AU NM_001284265 exon4 c.2541+106C>A 0.4998 0.6528 Uncertain 22_29191879_T->C 22 29191879 29191879 T C snp 56.74 1/1 6 2 0 2 1.0 intronic rs2097461 XBP1 AU NM_005080 exon2 c.501-155T>C 0.496805 0.6379 Uncertain 22_29196494_C->T 22 29196494 29196494 C T snp 1957.77 1/1 99 73 0 73 1.0 exonic rs5762809 XBP1 AU nonsynonymous SNV NM_005080 exon1 c.G19A p.A7T 0.139177 0.1905 0.2836 0.3085 0.04 T 0.609 P -1.083 T 0.017 T 0.007 T Pathogenic 22_29279991_C->T 22 29279991 29279991 C T snp 1733.77 1/1 99 69 0 69 1.0 exonic rs1065497 ZNRF3 AU synonymous SNV NM_001206998 exon1 c.C237T p.T79T 0.471845 0.5744 0.3759 0.5758 Uncertain 22_29413785_A->G 22 29413785 29413785 A G snp 958.77 1/1 69 30 0 30 1.0 intronic rs4823005 ZNRF3 AU NM_001206998 exon3 c.158728-24697A>G 0.552117 0.5347 Uncertain 22_29414001_A->G 22 29414001 29414001 A G snp 3469.77 1/1 99 127 0 127 1.0 intronic rs2347790 ZNRF3 AU NM_001206998 exon3 c.158728-24481A>G 0.398163 0.4345 0.447506 0.4555 0.4488 Uncertain 22_29438327_A->T 22 29438327 29438327 A T snp 583.77 1/1 45 18 0 18 1.0 intronic rs12484832 ZNRF3 AU NM_001206998 exon3 c.158728-155A>T 0.415535 0.4831 Uncertain 22_29439201_G->A 22 29439201 29439201 G A snp 1423.77 1/1 99 52 0 52 1.0 intronic rs9613785 ZNRF3 AU NM_001206998 exon4 c.159532-85G>A 0.41254 0.4831 Uncertain 22_29440692_A->C 22 29440692 29440692 A C snp 2316.77 1/1 99 88 1 87 0.99 intronic rs713834 ZNRF3 AU NM_001206998 exon5 c.161013-75A>C 0.490016 0.5258 Uncertain 22_29446611_A->C 22 29446611 29446611 A C snp 2925.77 1/1 99 111 0 111 1.0 exonic rs5997435 ZNRF3 AU synonymous SNV NM_001206998 exon8 c.A2442C p.P814P 0.516374 0.5198 0.525990 0.5170 0.5454 Uncertain 22_29446975_T->C 22 29446975 29446975 T C snp 1198.77 1/1 90 45 0 45 1.0 intronic rs6005967 ZNRF3 AU NM_001206998 exon8 c.167182+39T>C 0.398163 0.4296 0.411065 0.4586 0.4428 Uncertain 22_29447111_C->T 22 29447111 29447111 C T snp 50.74 1/1 6 2 0 2 1.0 intronic rs11704898 ZNRF3 AU NM_001206998 exon8 c.167182+175C>T 0.284345 0.375 Uncertain 22_29449477_A->G 22 29449477 29449477 A G snp 675.77 1/1 51 20 0 20 1.0 intronic rs2294239 ZNRF3 AU NM_001206998 exon9 c.169812-89A>G 0.376797 0.4395 Uncertain 22_29456733_T->C 22 29456733 29456733 T C snp 2820.77 1/1 99 100 0 100 1.0 exonic rs6005977 C22orf31 AU synonymous SNV NM_015370 exon2 c.A102G p.S34S 0.483826 0.3125 0.603568 0.5763 0.3060 Uncertain 22_29562850_G->C 22 29562850 29562850 G C snp 556.77 0/1 99 38 19 19 0.5 intronic rs10427585 KREMEN1 AU NM_032045 exon10 c.93913-181G>C 0.0626997 0.1091 Uncertain 22_29562853_T->C 22 29562853 29562853 T C snp 1391.77 1/1 99 40 0 40 1.0 intronic rs132316 KREMEN1 AU NM_032045 exon10 c.93913-178T>C 0.902556 0.8611 Uncertain 22_29562893_G->C 22 29562893 29562893 G C snp 2067.77 1/1 99 72 0 72 1.0 intronic rs132317 KREMEN1 AU NM_032045 exon10 c.93913-138G>C 0.807308 0.8036 Uncertain 22_29626802_A->G 22 29626802 29626802 A G snp 54.74 1/1 6 2 0 2 1.0 intronic rs3765296 EMID1 AU NM_133455 exon6 c.24981-206A>G 0.574281 0.4494 Uncertain 22_29626860_G->A 22 29626860 29626860 G A snp 125.77 0/1 99 15 10 5 0.33 intronic rs3765297 EMID1 AU NM_133455 exon6 c.24981-148G>A 0.107228 0.2242 Uncertain 22_29630337_G->A 22 29630337 29630337 G A snp 448.77 0/1 99 28 14 14 0.5 exonic rs3950176 EMID1 AU nonsynonymous SNV NM_001267895 exon12 c.G1067A p.R356Q 0.144569 0.2302 0.136629 0.1236 0.2327 0.66 T 0.000 P -1.104 T 0.034 T 0.007 T Pathogenic 22_29639192_C->T 22 29639192 29639192 C T snp 556.77 1/1 42 14 0 14 1.0 intronic rs2281157 EMID1 AU NM_133455 exon13 c.37406-241C>T 0.501198 0.4315 Uncertain 22_29650458_C->T 22 29650458 29650458 C T snp 168.9 1/1 15 5 0 5 1.0 intronic rs909794 EMID1 AU NM_133455 exon14 c.48249+182C>T 0.539936 0.3998 Uncertain 22_29656389_G->T 22 29656389 29656389 G T snp 662.77 0/1 99 87 58 29 0.33 exonic rs2231398 RHBDD3 AU synonymous SNV NM_012265 exon6 c.C909A p.A303A 0.171326 0.0397 0.298139 0.2886 0.0392 Uncertain 22_29664423_G->A 22 29664423 29664423 G A snp 1882.77 0/1 99 149 68 81 0.54 intronic rs2301291 EWSR1 AU NM_001163287 exon1 c.13+85G>A 0.417332 0.6706 0.333990 Uncertain 22_29682701_A->T 22 29682701 29682701 A T snp 46.77 0/1 33 3 1 2 0.67 intronic rs5997462 EWSR1 AU NM_001163287 exon7 c.18586-210A>T Uncertain 22_29692488_G->T 22 29692488 29692488 G T snp 167.78 0/1 27 8 2 6 0.75 intronic rs140065 EWSR1 AU NM_001163285 exon12 c.28033+130G>T 0.877995 0.9603 Uncertain 22_29692497_G->T 22 29692497 29692497 G T snp 167.78 0/1 24 8 2 6 0.75 intronic rs131190 EWSR1 AU NM_001163285 exon12 c.28033+139G>T 0.903754 0.9593 Uncertain 22_29693990_A->G 22 29693990 29693990 A G snp 1372.77 0/1 99 132 73 59 0.45 intronic rs3747142 EWSR1 AU NM_001163285 exon13 c.29614+51A>G 0.217652 0.377 0.121175 0.2037 0.3728 Uncertain 22_29695929_T->G 22 29695929 29695929 T G snp 511.77 0/1 99 37 19 18 0.49 intronic rs2518683 EWSR1 AU NM_001163285 exon16 c.31516+88T>G 0.109625 0.0377 Uncertain 22_29707639_-->C 22 29707639 29707639 - C indel 1426.73 1/1 99 38 0 38 1.0 exonic rs34777709 GAS2L1 AU unknown 1 1 0.998018 1 1 Uncertain 22_29711251_T->C 22 29711251 29711251 T C snp 2181.77 1/1 99 73 0 73 1.0 UTR5 rs2519485 RASL10A AU 1 1 1 1 Uncertain 22_29725893_T->C 22 29725893 29725893 T C snp 538.77 1/1 42 19 1 18 0.95 intronic rs2071578 AP1B1 AU NM_001127 exon2 c.900+184T>C 0.71226 0.7163 Uncertain 22_29727866_C->T 22 29727866 29727866 C T snp 3030.77 1/1 99 119 0 119 1.0 exonic rs174765 AP1B1 AU synonymous SNV NM_001166019 exon17 c.G2268A p.A756A 0.531949 0.6984 0.516300 0.5420 0.6915 Uncertain 22_29727886_T->C 22 29727886 29727886 T C snp 2644.77 1/1 99 87 0 87 1.0 exonic rs2857465 AP1B1 AU nonsynonymous SNV NM_001166019 exon17 c.A2248G p.T750A 0.9998 1 0.999923 0.9999 0.9998 1 T 0.000 P -0.938 T 0.0 T 0.0 T Pathogenic 22_29734797_G->A 22 29734797 29734797 G A snp 379.77 1/1 30 12 0 12 1.0 intronic rs6006098 AP1B1 AU NM_001166019 exon7 c.10169-181G>A 0.627596 0.7202 Uncertain 22_29746253_T->C 22 29746253 29746253 T C snp 115.77 0/1 99 16 11 5 0.31 intronic rs737883 AP1B1 AU NM_001166019 exon12 c.21330+114T>C 0.417931 0.6706 Uncertain 22_29755888_T->C 22 29755888 29755888 T C snp 2208.77 1/1 99 84 0 84 1.0 exonic rs2072051 AP1B1 AU synonymous SNV NM_001127 exon4 c.A204G p.L68L 0.66893 0.7252 0.642396 0.5840 0.7146 Uncertain 22_29759188_C->G 22 29759188 29759188 C G snp 125.77 0/1 99 25 18 7 0.28 intronic rs6006105 AP1B1 AU NM_001166019 exon19 c.34286+93C>G 0.437101 0.6796 Uncertain 22_29763074_C->T 22 29763074 29763074 C T snp 162.77 0/1 99 96 71 25 0.26 intronic rs2519490 AP1B1 AU NM_001166019 exon20 c.38386-121C>T Uncertain 22_29802801_C->A 22 29802801 29802801 C A snp 1016.77 0/1 99 142 92 50 0.35 intergenic rs56095561 AP1B1 AU 0.148962 0.0357 Uncertain 22_29819005_AT->- 22 29819005 29819006 AT - indel 1021.73 0/1 99 35 14 21 0.6 intergenic rs3044108 AP1B1 AU 0.122804 0.0357 Uncertain 22_29819081_G->A 22 29819081 29819081 G A snp 1734.77 1/1 99 64 0 64 1.0 intergenic rs459310 AP1B1 AU 0.541933 0.7282 0.4808 0.7225 Uncertain 22_29833639_C->G 22 29833639 29833639 C G snp 660.77 1/1 48 24 0 24 1.0 ncRNA_exonic rs174718 RFPL1S AU 0.883986 0.9514 Uncertain 22_29881884_G->A 22 29881884 29881884 G A snp 1975.77 1/1 99 64 0 64 1.0 intronic rs4823040 NEFH AR,AD NM_021076 exon3 c.5585+48G>A 0.985823 1 0.961864 0.9677 1 Uncertain 22_29885473_C->T 22 29885473 29885473 C T snp 1369.77 0/1 99 138 73 65 0.47 exonic rs5763269 NEFH AR,AD nonsynonymous SNV NM_021076 exon4 c.C1844T p.P615L 0.150559 0.0744 0.200984 0.1819 0.0769 0 D 0.000 P -1.287 T 0.672 T 0.085 P CLINSIG=untested;CLNDBN=not_provided;CLNREVSTAT=no_assertion_provided;CLNACC=RCV000057185.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Pathogenic 22_29885567_-->AAGTCCCCTGAGAAGGCC 22 29885567 29885567 - AAGTCCCCTGAGAAGGCC indel 9221.73 0/1 99 148 68 80 0.54 exonic rs147489453 NEFH AR,AD nonframeshift insertion NM_021076 exon4 c.1938_1939insAAGTCCCCTGAGAAGGCC p.A646delinsAKSPEKA 0.6470 0.8618 ID=COSM1415512;OCCURENCE=4(upper_aerodigestive_tract),47(large_intestine) Uncertain 22_29885861_T->C 22 29885861 29885861 T C snp 2224.77 0/1 99 205 96 109 0.53 exonic rs165923 NEFH AR,AD synonymous SNV NM_021076 exon4 c.T2232C p.A744A 0.818291 0.7917 0.800323 0.8060 0.8192 Uncertain 22_29886413_A->G 22 29886413 29886413 A G snp 349.77 0/1 99 38 21 17 0.45 exonic rs165625 NEFH AR,AD synonymous SNV NM_021076 exon4 c.A2784G p.V928V 0.850439 0.9256 0.800861 0.8190 0.9230 CLINSIG=untested;CLNDBN=not_provided;CLNREVSTAT=no_assertion_provided;CLNACC=RCV000057195.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Uncertain 22_29904519_T->C 22 29904519 29904519 T C snp 1958.77 0/1 99 184 106 78 0.42 intronic rs2283859 THOC5 AU NM_001002879 exon1 c.64+10T>C 0.201877 0.2024 0.224435 0.2267 0.2080 Uncertain 22_29908072_C->T 22 29908072 29908072 C T snp 780.77 0/1 99 72 37 35 0.49 exonic rs1049534 THOC5 AU nonsynonymous SNV NM_001002879 exon18 c.G1735A p.V579I 0.222045 0.4167 0.193449 0.2170 0.4311 0.47 T 0.000 P -0.907 T 0.0 T 0.0 T Pathogenic 22_29908154_G->T 22 29908154 29908154 G T snp 1530.77 1/1 99 60 0 60 1.0 intronic rs2007668 THOC5 AU NM_001002879 exon3 c.3680+29G>T 0.445887 0.7242 0.451868 0.4628 0.7568 Uncertain 22_29912885_G->A 22 29912885 29912885 G A snp 594.77 0/1 99 45 22 23 0.51 intronic rs12161054 THOC5 AU NM_001002879 exon4 c.8572-132G>A 0.223642 0.3065 Uncertain 22_29913272_C->T 22 29913272 29913272 C T snp 2832.77 1/1 99 107 2 105 0.98 exonic rs737976 THOC5 AU nonsynonymous SNV NM_001002879 exon16 c.G1573A p.V525I 0.445687 0.7242 0.451791 0.4620 0.7584 1 T 0.0 P -1.008 T 0.0 T 0.0 T Pathogenic 22_29915144_C->T 22 29915144 29915144 C T snp 1095.77 0/1 99 72 33 39 0.54 intronic rs2072301 THOC5 AU NM_001002879 exon6 c.10664+35C>T 0.224042 0.3065 0.257420 0.2512 0.3313 Uncertain 22_29924212_T->C 22 29924212 29924212 T C snp 2954.77 0/1 99 224 101 123 0.55 intronic rs5763297 THOC5 AU NM_001002879 exon10 c.19721+46T>C 0.226837 0.4177 0.196525 0.2227 0.4345 Uncertain 22_29925284_T->C 22 29925284 29925284 T C snp 941.77 0/1 99 64 24 40 0.63 intronic rs2302141 THOC5 AU NM_001002879 exon12 c.20783+56T>C 0.227436 0.4177 0.200394 Uncertain 22_29927223_G->A 22 29927223 29927223 G A snp 171.77 0/1 99 17 10 7 0.41 intronic rs2283861 THOC5 AU NM_001002879 exon13 c.23374-596G>A 0.0579073 0.1994 Uncertain 22_29927243_G->T 22 29927243 29927243 G T snp 105.77 0/1 99 12 8 4 0.33 intronic rs56066153 THOC5 AU NM_001002879 exon13 c.23374-576G>T 0.225839 0.3145 Uncertain 22_29938677_C->T 22 29938677 29938677 C T snp 191.77 0/1 99 14 5 9 0.64 intronic rs2240637 THOC5 AU NM_001002879 exon16 c.34402-170C>T 0.224641 0.4127 Uncertain 22_29952017_AG->- 22 29952017 29952018 AG - indel 1467.73 0/1 99 48 17 31 0.65 intronic rs148052790 NIPSNAP1 AU NM_001202502 exon1 c.65+29_65+30delAG 0.191294 0.1944 0.254089 0.1990 0.2255 Uncertain 22_29957570_G->A 22 29957570 29957570 G A snp 1749.77 0/1 99 144 73 71 0.49 exonic rs1058642 NIPSNAP1 AU synonymous SNV NM_003634 exon6 c.C504T p.L168L 0.181909 0.1468 0.254190 0.2252 0.1615 1.0 P Uncertain 22_29957911_T->C 22 29957911 29957911 T C snp 517.77 0/1 99 36 16 20 0.56 intronic rs469295 NIPSNAP1 AU NM_001202502 exon6 c.5928+60T>C 0.728235 0.4177 0.802234 Uncertain 22_29966083_C->T 22 29966083 29966083 C T snp 754.77 0/1 99 76 37 39 0.51 intronic rs456285 NIPSNAP1 AU NM_001202502 exon8 c.14227-67C>T 0.728435 0.4177 0.802234 Uncertain 22_29999878_G->C 22 29999878 29999878 G C snp 168.9 1/1 15 6 0 6 1.0 UTR5 rs1800540 NF2 AU,AD 0.870208 0.9444 Uncertain 22_30038152_A->C 22 30038152 30038152 A C snp 1007.77 0/1 99 77 33 44 0.57 intronic rs2530664 NF2 AU,AD NM_000268 exon4 c.38203-38A>C 0.214657 0.5645 0.132400 0.1862 0.5833 Uncertain 22_30077361_G->A 22 30077361 30077361 G A snp 261.8 1/1 21 7 0 7 1.0 intronic rs140086 NF2 AU,AD NM_000268 exon15 c.77440-66G>A 1 1 Uncertain 22_30079213_T->C 22 30079213 30079213 T C snp 374.77 1/1 30 10 0 10 1.0 intronic rs7291645 NF2 AU,AD NM_181832 exon16 c.79081+145T>C 0.27476 0.3323 Uncertain 22_30124614_A->T 22 30124614 30124614 A T snp 2539.77 1/1 99 88 0 88 1.0 splicing rs140096 CABP7 AU NM_182527 exon3 c.8205-4A>T 0.405751 0.5823 0.448255 0.3991 0.6159 Pathogenic 22_30124833_T->C 22 30124833 30124833 T C snp 5097.77 1/1 99 169 0 169 1.0 intronic rs140097 CABP7 AU NM_182527 exon3 c.8318+102T>C 0.405551 0.5784 Uncertain 22_30134611_C->T 22 30134611 30134611 C T snp 213.77 0/1 99 17 10 7 0.41 intronic rs140405900 ZMAT5 AU NM_019103 exon2 c.7217+181C>T 0.00239617 0.0109 Uncertain 22_30138548_T->C 22 30138548 30138548 T C snp 3047.77 1/1 99 109 0 109 1.0 intronic rs140120 ZMAT5 AU NM_019103 exon4 c.11256+79T>C 0.427915 0.5833 Uncertain 22_30138689_C->T 22 30138689 30138689 C T snp 344.78 1/1 27 9 0 9 1.0 intronic rs140121 ZMAT5 AU NM_019103 exon4 c.11256+220C>T 0.368411 0.5784 Uncertain 22_30163332_G->A 22 30163332 30163332 G A snp 139.03 1/1 12 4 0 4 1.0 upstream rs140134 UQCR10 AU 0.523163 0.6528 Uncertain 22_30184950_A->G 22 30184950 30184950 A G snp 2427.77 1/1 99 83 0 83 1.0 UTR3 rs7954 ASCC2 AU 0.531949 0.6548 0.566969 Uncertain 22_30200893_G->C 22 30200893 30200893 G C snp 3561.77 1/1 99 128 0 128 1.0 intronic rs2074706 ASCC2 AU NM_032204 exon8 c.15818+74G>C 0.296526 0.5675 Uncertain 22_30200936_T->C 22 30200936 30200936 T C snp 1974.77 1/1 99 65 0 65 1.0 intronic rs36572 ASCC2 AU NM_032204 exon8 c.15818+117T>C 0.531949 0.6538 Uncertain 22_30202774_G->C 22 30202774 30202774 G C snp 1210.77 1/1 87 43 0 43 1.0 intronic rs737945 ASCC2 AU NM_032204 exon11 c.17784-11G>C 0.465256 0.6538 0.464478 0.4328 0.6771 Uncertain 22_30211876_A->G 22 30211876 30211876 A G snp 141.03 1/1 12 4 0 4 1.0 intronic rs713657 ASCC2 AU NM_032204 exon15 c.26993-118A>G 0.319289 0.5685 Uncertain 22_30212194_C->G 22 30212194 30212194 C G snp 647.77 1/1 48 20 0 20 1.0 intronic rs713656 ASCC2 AU NM_032204 exon15 c.27061+132C>G 0.286542 0.5675 Uncertain 22_30217827_A->T 22 30217827 30217827 A T snp 269.8 1/1 21 9 0 9 1.0 intronic rs2057882 ASCC2 AU NM_032204 exon16 c.33322-496A>T 0.307109 0.5675 Uncertain 22_30221201_G->A 22 30221201 30221201 G A snp 2646.77 0/1 99 213 100 113 0.53 exonic rs1894473 ASCC2 AU nonsynonymous SNV NM_001242906 exon3 c.C127T p.R43C 0.0972444 0.3244 0.022605 0.0467 0.3596 0.14 T 0.759 P -0.977 T 0.013 T 0.014 T Pathogenic 22_30221826_T->A 22 30221826 30221826 T A snp 939.77 1/1 69 31 0 31 1.0 intronic rs9306465 ASCC2 AU NM_032204 exon18 c.36768+57T>A 0.284744 0.5675 Uncertain 22_30223746_-->ACACAC 22 30223746 30223746 - ACACAC indel 984.73 1/1 45 33 0 33 1.0 intronic rs147155722 ASCC2 AU NM_032204 exon18 c.36768+1977insACACAC Uncertain 22_30223796_-->CTC 22 30223796 30223796 - CTC indel 683.73 1/1 36 12 0 12 1.0 intronic rs148580571 ASCC2 AU NM_032204 exon18 c.36768+2027insCTC 0.529353 0.6518 Uncertain 22_30223813_C->T 22 30223813 30223813 C T snp 178.9 1/1 15 6 0 6 1.0 intronic rs1961926 ASCC2 AU NM_032204 exon18 c.36768+2044C>T 0.523762 0.6349 Uncertain 22_30229399_C->G 22 30229399 30229399 C G snp 521.53 1/1 3 18 1 17 0.94 intronic rs3958025 ASCC2 AU NM_032204 exon19 c.43330+1068C>G 0.820487 0.9097 Uncertain 22_30234192_-->GCCGCC 22 30234192 30234192 - GCCGCC indel 2904.73 ./1 99 59 0 59 1.0 UTR5 rs573886055 ASCC2 AU 0.1718 0.2647 Uncertain 22_30234193_GCC->- 22 30234193 30234195 GCC - indel 2904.73 ./1 99 59 0 59 1.0 UTR5 rs10559800 ASCC2 AU 0.1041 0.3382 Uncertain 22_30366924_-->T 22 30366924 30366924 - T indel 488.73 1/1 57 21 0 21 1.0 intronic rs34749290 MTMR3 AU 0.161542 0.0794 Uncertain 22_30374621_T->A 22 30374621 30374621 T A snp 59.74 1/1 6 3 0 3 1.0 intronic rs997913 MTMR3 AU NM_153051 exon4 c.7472+101T>A 0.44389 0.7044 Uncertain 22_30384572_G->A 22 30384572 30384572 G A snp 1378.77 1/1 99 53 0 53 1.0 intronic rs5763671 MTMR3 AU NM_153051 exon6 c.17503+21G>A 0.404353 0.7054 0.332308 0.3955 0.7117 Uncertain 22_30394623_T->C 22 30394623 30394623 T C snp 41.74 1/1 6 2 0 2 1.0 intronic rs5763689 MTMR3 AU NM_153051 exon8 c.27701-126T>C 0.836262 0.9117 Uncertain 22_30408258_G->A 22 30408258 30408258 G A snp 607.77 0/1 99 38 17 21 0.55 ncRNA_intronic HORMAD2-AS1 AU Uncertain 22_30415938_G->T 22 30415938 30415938 G T snp 1472.77 0/1 99 107 49 58 0.54 exonic rs184789735 MTMR3 AU nonsynonymous SNV NM_021090 exon17 c.G2290T p.G764C 0.00239617 0.0119 0.000231 0.0011 0.0134 0.05 T 1.000 N -0.059 T 0.911 T 0.621 D Pathogenic 22_30689998_G->A 22 30689998 30689998 G A snp 2354.77 0/1 99 222 117 105 0.47 exonic rs11089442 TBC1D10A AU synonymous SNV NM_001204240 exon7 c.C828T p.L276L 0.197284 0.3046 0.114716 0.1957 0.3107 Uncertain 22_30691631_G->A 22 30691631 30691631 G A snp 2061.77 0/1 99 175 87 88 0.5 intronic rs2097919 TBC1D10A AU NM_001204240 exon6 c.3362-94G>A 0.734026 0.7708 Uncertain 22_30714684_A->C 22 30714684 30714684 A C snp 2415.77 0/1 99 232 120 112 0.48 intronic rs740219 TBC1D10A AU NM_001204240 exon9 c.34298-7977A>C 0.910942 0.9157 0.8977 0.9271 Uncertain 22_30733914_C->A 22 30733914 30733914 C A snp 679.77 0/1 99 65 38 27 0.42 intronic rs2074731 SF3A1 AU NM_005877 exon5 c.3304+28C>A 0.208466 0.3046 0.123343 0.2365 0.3309 Uncertain 22_30736911_G->A 22 30736911 30736911 G A snp 121.77 0/1 99 8 3 5 0.63 intronic rs5749066 SF3A1 AU NM_005877 exon9 c.6219+110G>A 0.910543 0.9157 Uncertain 22_30738161_C->T 22 30738161 30738161 C T snp 1637.77 0/1 99 156 83 73 0.47 intronic rs9608885 SF3A1 AU NM_005877 exon11 c.7606-27C>T 0.756789 0.7708 0.652314 0.6650 0.7613 Uncertain 22_30738438_C->T 22 30738438 30738438 C T snp 74.77 0/1 99 7 4 3 0.43 intronic rs76192495 SF3A1 AU NM_005877 exon11 c.7757+99C>T 0.0297524 0.0863 Uncertain 22_30738737_G->A 22 30738737 30738737 G A snp 1319.77 0/1 99 107 49 58 0.54 intronic rs5753080 SF3A1 AU NM_005877 exon12 c.8211-56G>A 0.910543 0.9157 0.867061 Uncertain 22_30742623_T->G 22 30742623 30742623 T G snp 589.77 0/1 99 29 10 19 0.66 intronic rs740221 SF3A1 AU NM_005877 exon14 c.11926+115T>G 0.765575 0.7688 Uncertain 22_30752696_G->T 22 30752696 30752696 G T snp 1433.77 0/1 99 124 59 65 0.52 UTR5 rs5994293 CCDC157 AU 0.595647 0.7391 0.408010 0.5856 0.7006 Uncertain 22_30770603_T->A 22 30770603 30770603 T A snp 2307.77 0/1 99 198 101 97 0.49 ncRNA_exonic rs5749082 KIAA1656 AU 0.873403 0.9147 0.8539 0.9257 Uncertain 22_30771554_T->G 22 30771554 30771554 T G snp 8022.77 1/1 99 247 0 247 1.0 exonic rs2015035 CCDC157 AU nonsynonymous SNV NM_001017437 exon10 c.T1759G p.S587A 0.986422 1 0.963863 0.9684 1 1 T 1.0 P -0.935 T 0.0 T 0.0 T Pathogenic 22_30774340_A->G 22 30774340 30774340 A G snp 339.77 0/1 99 24 12 12 0.5 upstream;downstream rs9619104 KIAA1656;RNF215 UN 0.912141 0.9157 Uncertain 22_30782731_G->A 22 30782731 30782731 G A snp 1061.77 0/1 99 103 57 46 0.45 exonic rs12171261 RNF215 AU synonymous SNV NM_001017981 exon2 c.C303T p.A101A 0.259784 0.3492 0.169998 0.2362 0.3457 0.000 P Uncertain 22_30794719_C->T 22 30794719 30794719 C T snp 1371.77 0/1 99 114 50 64 0.56 intronic rs11089447 SEC14L2 AU NM_033382 exon2 c.2526-912C>T 0.278754 0.3542 0.3138 0.3306 0.26 T 0.000 P -0.945 T Uncertain 22_30812549_C->G 22 30812549 30812549 C G snp 1341.77 0/1 99 105 48 57 0.54 UTR3 rs5997642 SEC14L2 AU 0.79353 0.8879 Uncertain 22_30812648_C->T 22 30812648 30812648 C T snp 231.77 0/1 99 13 5 8 0.62 UTR3 SEC14L2 AU Uncertain 22_30820707_A->G 22 30820707 30820707 A G snp 321.77 0/1 99 48 33 15 0.31 UTR3 rs5994305 SEC14L2 AU 0.279952 0.4226 0.3166 0.3557 Uncertain 22_30822920_-->G 22 30822920 30822920 - G indel 6131.73 1/1 99 160 0 160 1.0 intronic rs397690065 MTFP1 AU NM_016498 exon2 c.965+88insG Uncertain 22_30823113_T->G 22 30823113 30823113 T G snp 899.77 0/1 99 62 29 33 0.53 intronic rs2072160 MTFP1 AU NM_016498 exon3 c.1290-44T>G 0.270168 0.4167 0.180609 0.2418 0.4053 Uncertain 22_30823196_T->C 22 30823196 30823196 T C snp 1724.77 0/1 99 158 81 77 0.49 exonic rs5753130 MTFP1 AU synonymous SNV NM_016498 exon3 c.T234C p.T78T 0.579273 0.6935 0.458558 0.5303 0.6840 Uncertain 22_30831852_G->A 22 30831852 30831852 G A snp 105.77 0/1 99 9 5 4 0.44 intergenic rs11705639 MTFP1 AU 0.246206 0.4137 Uncertain 22_30855970_C->A 22 30855970 30855970 C A snp 672.77 0/1 99 52 26 26 0.5 UTR3 rs116858754 SEC14L3 AU 0.00678914 0.0308 0.000154 0.0035 0.0363 Uncertain 22_30857373_A->C 22 30857373 30857373 A C snp 2775.77 0/1 99 220 108 112 0.51 exonic rs2240345 SEC14L3 AU nonsynonymous SNV NM_174975 exon11 c.T1005G p.D335E 0.776558 0.8601 0.692373 0.6856 0.8510 1 T 1.0 P -0.971 T 0.0 T 0.0 T Pathogenic 22_30857448_A->G 22 30857448 30857448 A G snp 3246.77 0/1 99 228 100 128 0.56 exonic rs5749104 SEC14L3 AU synonymous SNV NM_174975 exon11 c.T930C p.D310D 0.771965 0.8601 0.675842 0.6657 0.8501 Uncertain 22_30862146_C->A 22 30862146 30862146 C A snp 165.77 0/1 99 17 10 7 0.41 intronic rs1047917 SEC14L3 AU NM_174975 exon6 c.6313-174C>A 0.776757 0.8601 Uncertain 22_30862400_T->A 22 30862400 30862400 T A snp 923.77 0/1 99 84 44 40 0.48 intronic rs1057995 SEC14L3 AU NM_174975 exon6 c.6374+19T>A 0.776757 0.8601 0.691527 0.6848 0.8498 Uncertain 22_30863163_C->T 22 30863163 30863163 C T snp 334.77 0/1 99 26 12 14 0.54 intronic rs5997653 SEC14L3 AU NM_174975 exon7 c.7057+99C>T 0.76278 0.8601 Uncertain 22_30864610_A->G 22 30864610 30864610 A G snp 2535.77 0/1 99 219 112 107 0.49 exonic rs4820853 SEC14L3 AU nonsynonymous SNV NM_174975 exon5 c.T308C p.I103T 0.453474 0.4663 0.359449 0.3978 0.4469 0.1 T 1.0 P -0.938 T 0.015 T 0.142 T Pathogenic 22_30864692_G->A 22 30864692 30864692 G A snp 2515.77 0/1 99 214 109 105 0.49 intronic rs4820854 SEC14L3 AU NM_174975 exon8 c.8676+9G>A 0.76278 0.8611 0.680609 0.6644 0.8503 Uncertain 22_30864792_C->T 22 30864792 30864792 C T snp 1266.77 0/1 99 108 55 53 0.49 UTR5 rs2269962 SEC14L3 AU 0.438099 0.4653 0.4023 0.4662 Uncertain 22_30864817_A->G 22 30864817 30864817 A G snp 899.77 0/1 99 71 38 33 0.46 UTR5 rs2269963 SEC14L3 AU 0.776957 0.8611 0.6863 0.8492 Uncertain 22_30864897_A->T 22 30864897 30864897 A T snp 111.77 0/1 99 9 5 4 0.44 UTR5 rs5753162 SEC14L3 AU 0.776957 0.8611 Uncertain 22_30868102_T->C 22 30868102 30868102 T C snp 43.77 0/1 64 4 2 2 0.5 upstream rs2066926 SEC14L3 AU 0.265575 0.4692 Uncertain 22_30887501_G->T 22 30887501 30887501 G T snp 2208.77 0/1 99 159 73 86 0.54 intronic rs5753168 SEC14L4 AU NM_001161368 exon2 c.1696-58G>T 0.0621006 0.0962 Uncertain 22_30891412_G->A 22 30891412 30891412 G A snp 2505.77 0/1 99 249 142 107 0.43 exonic rs8138701 SEC14L4 AU synonymous SNV NM_001161368 exon5 c.C252T p.D84D 0.0660942 0.0952 0.047209 0.0240 0.0940 Uncertain 22_30921203_T->C 22 30921203 30921203 T C snp 664.77 0/1 99 57 34 23 0.4 intronic rs6518696 SEC14L6 AU NM_001193336 exon1 c.113+107T>C 0.0684904 0.0982 Uncertain 22_30921227_A->G 22 30921227 30921227 A G snp 855.77 0/1 99 62 35 27 0.44 intronic rs6518697 SEC14L6 AU NM_001193336 exon2 c.353-109A>G 0.0684904 0.0982 Uncertain 22_30921371_T->C 22 30921371 30921371 T C snp 3430.77 0/1 99 250 121 129 0.52 exonic rs6518698 SEC14L6 AU synonymous SNV NM_001193336 exon11 c.A1047G p.E349E 0.289337 0.1399 0.2595 0.1271 Uncertain 22_30921476_A->G 22 30921476 30921476 A G snp 2286.77 0/1 99 181 91 90 0.5 exonic rs8135119 SEC14L6 AU synonymous SNV NM_001193336 exon11 c.T942C p.I314I 0.116414 0.0982 0.0557 0.0931 Uncertain 22_30921534_C->A 22 30921534 30921534 C A snp 946.77 0/1 99 61 27 34 0.56 intronic rs5753178 SEC14L6 AU NM_001193336 exon2 c.523+28C>A 0.067492 0.0942 0.0245 0.0939 Uncertain 22_30927882_C->T 22 30927882 30927882 C T snp 2471.77 0/1 99 188 82 106 0.56 intronic rs8138980 SEC14L6 AU NM_001193336 exon7 c.6906-7C>T 0.0636981 0.0913 0.0205 0.0784 Uncertain 22_30927975_C->T 22 30927975 30927975 C T snp 4827.77 1/1 99 177 0 177 1.0 exonic rs5749118 SEC14L6 AU nonsynonymous SNV NM_001193336 exon6 c.G434A p.R145K 0.880391 0.999 0.8667 0.9980 0.69 T 1.000 P -0.980 T Pathogenic 22_30928093_T->G 22 30928093 30928093 T G snp 388.77 0/1 99 30 15 15 0.5 intronic rs7289983 SEC14L6 AU NM_001193336 exon7 c.7002+108T>G 0.0880591 0.0923 Uncertain 22_30928108_-->A 22 30928108 30928108 - A indel 402.73 0/1 99 21 9 12 0.57 intronic rs11415971 SEC14L6 AU NM_001193336 exon7 c.7002+123insA 0.0874601 0.0923 Uncertain 22_30930158_T->C 22 30930158 30930158 T C snp 124.77 0/1 99 24 18 6 0.25 intronic rs2899151 SEC14L6 AU NM_001193336 exon10 c.9043+132T>C 0.690495 0.5258 Uncertain 22_30934816_T->C 22 30934816 30934816 T C snp 2465.77 0/1 99 231 116 115 0.5 exonic rs5753190 SEC14L6 AU nonsynonymous SNV NM_001193336 exon2 c.A128G p.Q43R 0.721645 0.5437 0.7697 0.6303 1 T 1.000 P -0.934 T Pathogenic 22_30934885_C->T 22 30934885 30934885 C T snp 1962.77 0/1 99 142 59 83 0.58 exonic rs118116676 SEC14L6 AU nonsynonymous SNV NM_001193336 exon2 c.G59A p.R20Q 0.0201677 0.0357 0.0248 0.0377 0.01 T 0.999 D -0.175 T Pathogenic 22_30952014_G->A 22 30952014 30952014 G A snp 1559.77 0/1 99 148 84 64 0.43 exonic rs4149493 GAL3ST1 AU synonymous SNV NM_004861 exon4 c.C198T p.N66N 0.00279553 0.0129 0.000078 0.0012 0.0153 Uncertain 22_30953295_C->T 22 30953295 30953295 C T snp 1157.77 0/1 99 113 58 55 0.49 exonic rs2267161 GAL3ST1 AU nonsynonymous SNV NM_004861 exon3 c.G85A p.V29M 0.309904 0.3502 0.336691 0.3065 0.3284 0.24 T 1.000 P -0.893 T 0.137 T 0.106 T Pathogenic 22_31003454_A->G 22 31003454 31003454 A G snp 1557.77 0/1 99 141 76 65 0.46 intronic rs28704032 TCN2 AR NM_000355 exon1 c.64+72A>G 0.0201677 0.0486 Uncertain 22_31011882_A->T 22 31011882 31011882 A T snp 639.77 0/1 99 39 18 21 0.54 intronic rs4820021 TCN2 AR NM_000355 exon6 c.8456+108A>T 0.849241 0.7371 Uncertain 22_31013304_C->T 22 31013304 31013304 C T snp 1781.77 0/1 99 156 75 81 0.52 intronic rs192009509 TCN2 AR NM_000355 exon7 c.9998-12C>T 0.00279553 0.0139 0.000077 0.0011 0.0132 Uncertain 22_31013575_C->T 22 31013575 31013575 C T snp 285.77 0/1 99 15 6 9 0.6 intronic rs140035917 TCN2 AR NM_000355 exon7 c.10164+93C>T 0.000599042 0.003 Uncertain 22_31059250_T->G 22 31059250 31059250 T G snp 54.74 1/1 6 2 0 2 1.0 UTR3 rs2240002 DUSP18 AU 0.450679 0.5665 Uncertain 22_31060029_G->C 22 31060029 31060029 G C snp 747.77 0/1 99 49 22 27 0.55 UTR5 rs1005887 DUSP18 AU 0.48762 0.4385 0.422615 0.3911 0.4598 Uncertain 22_31266546_T->C 22 31266546 31266546 T C snp 5471.77 1/1 99 198 0 198 1.0 exonic rs2301816 OSBP2 AU synonymous SNV NM_001282741 exon2 c.T210C p.A70A 0.706669 0.8234 0.656494 0.6577 0.8198 Uncertain 22_31266777_T->C 22 31266777 31266777 T C snp 427.77 1/1 33 11 0 11 1.0 intronic rs4820909 OSBP2 AU NM_001282739 exon3 c.175773+108T>C 0.999601 1 Uncertain 22_31268129_G->A 22 31268129 31268129 G A snp 50.74 1/1 6 2 0 2 1.0 intronic rs5994353 OSBP2 AU NM_001282739 exon3 c.175773+1460G>A 0.8127 0.8681 Uncertain 22_31289579_T->C 22 31289579 31289579 T C snp 2788.77 0/1 99 228 115 113 0.5 intronic rs200418078 OSBP2 AU NM_001282739 exon10 c.198657+26T>C 0.00119808 0.006 0.0003 0.0038 Uncertain 22_31301734_-->GG 22 31301734 31301734 - GG indel 1634.73 1/1 99 33 0 33 1.0 intronic rs10625967 OSBP2 AU NM_001282739 exon13 c.210927-89insGG 1 1 Uncertain 22_31337950_T->C 22 31337950 31337950 T C snp 1674.77 0/1 99 127 54 73 0.57 exonic rs76273991 MORC2 AD nonsynonymous SNV NM_001303256 exon8 c.A626G p.N209S 0.00878594 0.0437 0.0025 0.0343 0.43 T 1 D -1.029 T 0.06 T 0.018 T Pathogenic 22_31342594_C->T 22 31342594 31342594 C T snp 607.77 1/1 48 20 0 20 1.0 intronic rs5753403 MORC2 AD NM_001303256 exon21 c.19647+158C>T 0.952676 1 Uncertain 22_31486291_G->C 22 31486291 31486291 G C snp 159.77 0/1 48 7 2 5 0.71 intronic rs2074738 SMTN AU NM_001207017 exon8 c.7260+125G>C 0.223043 0.4692 Uncertain 22_31486911_C->G 22 31486911 31486911 C G snp 2394.77 0/1 99 250 141 109 0.44 intronic rs2074737 SMTN AU NM_001207017 exon10 c.8040-35C>G 0.277356 0.4722 0.222513 0.1713 0.4498 Uncertain 22_31487268_G->A 22 31487268 31487268 G A snp 1601.77 0/1 99 109 42 67 0.61 exonic rs146689708 SMTN AU nonsynonymous SNV NM_001207018 exon9 c.G1427A p.G476D 0.00119808 0.006 0.0002 0.0031 0.01 T 1 D -0.479 T 0.989 D 0.719 D Pathogenic 22_31493164_C->T 22 31493164 31493164 C T snp 527.77 0/1 99 37 16 21 0.57 intronic rs41282559 SMTN AU NM_001207017 exon17 c.14348-90C>T 0.0319489 0.0377 Uncertain 22_31493460_T->C 22 31493460 31493460 T C snp 417.77 1/1 33 12 0 12 1.0 intronic rs5753458 SMTN AU NM_001207017 exon17 c.14418+136T>C 0.740216 0.5813 Uncertain 22_31494568_-->C 22 31494568 31494568 - C indel 492.73 0/1 99 61 39 22 0.36 intronic rs33991833 SMTN AU NM_001207017 exon18 c.15746-84insC Uncertain 22_31497054_A->C 22 31497054 31497054 A C snp 1010.77 1/1 72 36 0 36 1.0 intronic rs5753459 SMTN AU NM_134269 exon20 c.17791+19A>C 0.9373 1 0.863853 0.8710 1 Uncertain 22_31521404_G->A 22 31521404 31521404 G A snp 2059.77 0/1 99 152 70 82 0.54 exonic rs2240432 INPP5J AU nonsynonymous SNV NM_001284285 exon2 c.G679A p.A227T 0.378395 0.5387 0.3789 0.5289 0.01 T 0.0 P -1.010 T 0.002 T 0.001 T Pathogenic 22_31521850_A->C 22 31521850 31521850 A C snp 1126.77 0/1 99 123 72 51 0.41 exonic rs2240431 INPP5J AU synonymous SNV NM_001284285 exon2 c.A1125C p.T375T 0.752596 0.5992 0.755711 0.7993 0.6283 Uncertain 22_31529043_C->A 22 31529043 31529043 C A snp 1113.77 0/1 99 112 60 52 0.46 intronic rs9917541 INPP5J AU NM_001284287 exon9 c.6688-40C>A 0.196086 0.1706 0.215693 0.2081 0.1779 Uncertain 22_31529772_C->T 22 31529772 31529772 C T snp 649.77 0/1 99 50 25 25 0.5 intronic rs728206 INPP5J AU NM_001284287 exon11 c.7305+72C>T 0.192292 0.1706 0.2571 0.2006 Uncertain 22_31532568_G->C 22 31532568 31532568 G C snp 417.77 0/1 99 38 19 19 0.5 intronic rs757872 PLA2G3 AU NM_015715 exon2 c.960-100G>C 0.737819 0.7153 Uncertain 22_31532608_G->A 22 31532608 31532608 G A snp 825.77 0/1 99 75 38 37 0.49 intronic rs2232184 PLA2G3 AU NM_015715 exon2 c.960-60G>A 0.134585 0.1657 Uncertain 22_31533967_G->A 22 31533967 31533967 G A snp 450.77 0/1 99 40 22 18 0.45 exonic rs2074739 PLA2G3 AU synonymous SNV NM_015715 exon4 c.C795T p.Y265Y 0.536342 0.3948 0.543749 0.5658 0.3947 Uncertain 22_31535995_C->G 22 31535995 31535995 C G snp 686.77 0/1 99 55 26 29 0.53 exonic rs2074734 PLA2G3 AU nonsynonymous SNV NM_015715 exon1 c.G346C p.E116Q 0.159944 0.3909 0.074427 0.0963 0.3883 0.18 T 0.0 P -0.902 T 0.976 D 0.559 D Pathogenic 22_31536133_A->C 22 31536133 31536133 A C snp 3552.77 1/1 99 128 0 128 1.0 exonic rs2232176 PLA2G3 AU nonsynonymous SNV NM_015715 exon1 c.T208G p.S70A 0.832069 0.9325 0.752268 0.8103 0.9223 0.88 T 0.0 P -1.025 T 0.0 T 0.0 T Pathogenic 22_31556103_A->G 22 31556103 31556103 A G snp 893.77 1/1 63 38 0 38 1.0 ncRNA_exonic rs5997893 MIR3928 AU 0.686901 0.498 0.6995 0.6364 Uncertain 22_31583007_A->G 22 31583007 31583007 A G snp 411.77 1/1 33 14 0 14 1.0 intronic rs5997902 RNF185 AU 0.842252 0.881 Uncertain 22_31600328_-->AA 22 31600328 31600328 - AA indel 141.73 0/1 99 55 38 17 0.31 intronic rs3068175 RNF185 AU NM_152267 exon7 c.17394-146insAA Uncertain 22_31600460_T->C 22 31600460 31600460 T C snp 4010.77 1/1 99 160 2 158 0.99 intronic rs2413035 RNF185 AU NM_152267 exon7 c.17394-14T>C 0.846246 0.8819 0.799400 0.7642 0.8738 Uncertain 22_31602139_A->G 22 31602139 31602139 A G snp 469.77 1/1 36 18 0 18 1.0 UTR3 rs3208937 RNF185 AU 0.839257 0.881 Uncertain 22_31602187_C->T 22 31602187 31602187 C T snp 85.28 1/1 9 3 0 3 1.0 UTR3 rs13158 RNF185 AU 0.846446 0.8819 Uncertain 22_31658281_A->G 22 31658281 31658281 A G snp 3375.77 1/1 99 113 0 113 1.0 intronic rs2073857 LIMK2 AU NM_005569 exon6 c.49831+56A>G 0.845048 0.876 Uncertain 22_31663842_C->G 22 31663842 31663842 C G snp 4468.77 1/1 99 168 0 168 1.0 exonic rs2228619 LIMK2 AU synonymous SNV NM_001031801 exon9 c.C1146G p.L382L 0.845048 0.876 0.799477 0.7607 0.8691 Uncertain 22_31663985_C->T 22 31663985 31663985 C T snp 1254.77 0/1 99 105 54 51 0.49 intronic rs2073856 LIMK2 AU NM_005569 exon10 c.55499+92C>T 0.123802 0.3938 Uncertain 22_31664032_C->T 22 31664032 31664032 C T snp 1483.77 0/1 99 86 32 54 0.63 intronic rs5997929 LIMK2 AU NM_005569 exon11 c.55735-97C>T 0.280551 0.0685 Uncertain 22_31669267_A->G 22 31669267 31669267 A G snp 780.77 1/1 57 25 0 25 1.0 intronic rs2040532 LIMK2 AU NM_005569 exon14 c.61043-170A>G 0.979233 1 Uncertain 22_31671050_C->- 22 31671050 31671050 C - indel 2456.73 0/1 99 137 67 70 0.51 intronic rs66507268 LIMK2 AU NM_005569 exon15 c.62742-86delC 0.123602 0.3938 Uncertain 22_31672752_A->C 22 31672752 31672752 A C snp 272.8 1/1 21 11 0 11 1.0 intronic rs5997933 LIMK2 AU NM_001031801 exon15 c.28072-22A>C 0.840855 0.876 0.813626 0.7771 0.8733 Uncertain 22_31673111_A->G 22 31673111 31673111 A G snp 481.77 0/1 99 53 32 21 0.4 exonic rs3747153 LIMK2 AU synonymous SNV NM_001031801 exon15 c.A2046G p.T682T 0.124201 0.3958 0.024146 0.0545 0.3731 Uncertain 22_31673116_A->G 22 31673116 31673116 A G snp 351.77 0/1 99 46 29 17 0.37 exonic rs3747154 LIMK2 AU nonsynonymous SNV NM_001031801 exon15 c.A2051G p.Q684R 0.124201 0.3958 0.023916 0.0545 0.3729 0 D 1.000 P -1.100 T 0.92 T 0.728 D ID=COSM4004896;OCCURENCE=1(urinary_tract) Pathogenic 22_31674200_G->A 22 31674200 31674200 G A snp 1276.77 0/1 99 126 73 53 0.42 intronic rs2073860 LIMK2 AU NM_005569 exon16 c.65888-82G>A 0.123802 0.3938 Uncertain 22_31679110_G->C 22 31679110 31679110 G C snp 1733.77 1/1 99 53 0 53 1.0 exonic rs2040533 PIK3IP1 AU nonsynonymous SNV NM_052880 exon6 c.C752G p.T251S 0.845048 0.876 0.799400 0.7734 0.8754 1 T 0.003 P -0.984 T 0.0 T 0.0 T Pathogenic 22_31679449_C->T 22 31679449 31679449 C T snp 110.78 0/1 27 5 1 4 0.8 intronic rs4820961 PIK3IP1 AU NM_052880 exon1 c.205+175C>T 0.316094 0.0685 Uncertain 22_31685256_C->G 22 31685256 31685256 C G snp 1462.77 0/1 99 135 73 62 0.46 intronic rs2073861 PIK3IP1 AU NM_052880 exon2 c.6231-44C>G 0.111821 0.3938 0.015070 0.0596 0.3986 0 D 0.000 P -0.978 T 0.557 P 0.086 P Uncertain 22_31685458_G->A 22 31685458 31685458 G A snp 5293.77 1/1 99 204 0 204 1.0 intronic rs5753543 PIK3IP1 AU NM_052880 exon3 c.6415-26G>A 0.845048 0.876 0.799323 0.7775 0.8786 Uncertain 22_31687142_G->C 22 31687142 31687142 G C snp 5460.77 1/1 99 197 0 197 1.0 intronic rs5753544 PIK3IP1 AU NM_052880 exon5 c.8096-23G>C 1 1 1 1 Uncertain 22_31687313_A->G 22 31687313 31687313 A G snp 2942.77 1/1 99 107 0 107 1.0 intronic rs4820044 PIK3IP1 AU NM_052880 exon5 c.8213+31A>G 0.982228 1 0.955041 0.9679 1 Uncertain 22_31722886_T->G 22 31722886 31722886 T G snp 1233.77 0/1 99 105 54 51 0.49 exonic rs2240424 PATZ1 AU nonsynonymous SNV NM_032050 exon4 c.A1917C p.E639D 0.121406 0.3839 0.023143 0.0559 0.3709 0.05 T 1.0 P -0.883 T 0.817 T 0.373 P Pathogenic 22_31724973_A->- 22 31724973 31724973 A - indel 1839.73 1/1 99 47 0 47 1.0 intronic rs131207 PATZ1 AU NM_014323 exon2 c.2034+63delA 0.84385 0.875 Uncertain 22_31795866_T->C 22 31795866 31795866 T C snp 2041.77 1/1 99 59 0 59 1.0 intronic rs4820047 DRG1 AU NM_004147 exon1 c.42+155T>C 0.993411 1 Uncertain 22_31843567_G->C 22 31843567 31843567 G C snp 1401.77 1/1 99 54 0 54 1.0 intronic rs2273251 EIF4ENIF1 AU NM_001164502 exon6 c.7689+13G>C 0.238019 0.499 0.202214 0.2723 0.4694 Uncertain 22_31844293_A->C 22 31844293 31844293 A C snp 5005.77 1/1 99 179 0 179 1.0 intronic rs738658 EIF4ENIF1 AU NM_001164501 exon7 c.8353+75A>C 0.827276 0.9752 Uncertain 22_31854435_T->- 22 31854435 31854435 T - indel 4160.73 1/1 99 115 0 115 1.0 intronic rs11293411 EIF4ENIF1 AU NM_001164501 exon13 c.18595-25delT 0.93111 0.9891 0.927875 0.9286 0.9913 Uncertain 22_31904170_A->G 22 31904170 31904170 A G snp 976.77 1/1 69 37 0 37 1.0 intronic rs2413054 SFI1 AU 0.930511 0.9911 Uncertain 22_31926725_C->T 22 31926725 31926725 C T snp 872.77 1/1 63 30 0 30 1.0 intronic rs3818134 SFI1 AU NM_014775 exon4 c.22773-318C>T 0.610024 0.5913 Uncertain 22_31971072_GTGT->- 22 31971072 31971075 GTGT - indel 519.73 1/1 33 11 0 11 1.0 intronic rs541701257 SFI1 AU NM_001258326 exon8 c.66946-144_66946-141delGTGT Uncertain 22_31971172_-->TCT 22 31971172 31971172 - TCT indel 2311.73 1/1 99 40 0 40 1.0 intronic rs10657905 SFI1 AU NM_001258326 exon8 c.66946-44insTCT 0.986022 1 0.985309 0.9965 0.9999 Uncertain 22_31971258_T->C 22 31971258 31971258 T C snp 2269.77 1/1 99 85 0 85 1.0 exonic rs5753700 SFI1 AU nonsynonymous SNV NM_001258326 exon8 c.T718C p.Y240H 0.955671 0.9911 0.936009 0.9560 0.9864 0.71 T 0.0 P -1.012 T 0.0 T 0.001 T Pathogenic 22_31971305_C->T 22 31971305 31971305 C T snp 911.77 0/1 99 87 43 44 0.51 exonic rs144068624 SFI1 AU synonymous SNV NM_001258326 exon8 c.C765T p.Y255Y 0.00399361 0.0149 0.000482 0.0024 0.0122 Uncertain 22_31983099_G->A 22 31983099 31983099 G A snp 666.77 1/1 51 17 0 17 1.0 intronic rs5749307 SFI1 AU NM_001258326 exon12 c.76850+1979G>A 0.986022 1 Uncertain 22_31983287_-->TTTGTTTTGT 22 31983287 31983287 - TTTGTTTTGT indel 14134.7 1/1 99 204 0 204 1.0 intronic rs112798271 SFI1 AU NM_001258326 exon13 c.81162-2145insTTTGTTTTGT 0.992612 1 0.8605 0.9833 Uncertain 22_32002294_T->C 22 32002294 32002294 T C snp 1360.77 1/1 99 44 1 43 0.98 intronic rs5753723 SFI1 AU NM_001258326 exon19 c.98043-19T>C 0.884984 0.9246 0.843470 0.8204 0.9295 Uncertain 22_32111727_C->T 22 32111727 32111727 C T snp 2927.77 0/1 99 223 100 123 0.55 exonic PRR14L AU nonsynonymous SNV NM_173566 exon4 c.G2098A p.V700I 1 N -1.007 T 0.75 T 0.232 P Pathogenic 22_32179850_G->C 22 32179850 32179850 G C snp 3280.77 1/1 99 98 0 98 1.0 intronic rs138286 DEPDC5 AD NM_001136029 exon8 c.28985-42G>C 0.989417 1 0.969566 0.9784 0.9999 Uncertain 22_32435409_G->C 22 32435409 32435409 G C snp 424.77 1/1 33 17 0 17 1.0 intergenic rs130262 YWHAH AU 0.532947 0.8472 Uncertain 22_32463875_G->A 22 32463875 32463875 G A snp 1372.77 1/1 99 46 0 46 1.0 intronic rs135110 SLC5A1 AR NM_000343 exon4 c.24685-78G>A 0.532548 0.8452 Uncertain 22_32478972_-->G 22 32478972 32478972 - G indel 2976.73 1/1 99 71 0 71 1.0 intronic rs131880 SLC5A1 AR NM_001256314 exon6 c.14569-88insG 0.970447 1 Uncertain 22_32545849_-->A 22 32545849 32545849 - A indel 3189.77 1/1 99 71 0 71 1.0 intronic rs58570639 C22orf42 AU NM_001010859 exon2 c.241+82insA 0.997804 1 Uncertain 22_32554985_A->G 22 32554985 32554985 A G snp 1142.77 0/1 99 101 53 48 0.48 exonic rs5998267 C22orf42 AU nonsynonymous SNV NM_001010859 exon1 c.T218C p.L73P 0.582468 0.4167 0.574889 0.4922 0.4303 0.15 T 0.0 P -0.996 T 0.0 T 0.0 T Pathogenic 22_32643425_G->A 22 32643425 32643425 G A snp 1255.77 0/1 99 119 61 58 0.49 exonic rs138083226 SLC5A4 AU synonymous SNV NM_014227 exon5 c.C450T p.L150L 0.0061901 0.0179 0.000384 0.0026 0.0183 Uncertain 22_32650291_C->T 22 32650291 32650291 C T snp 696.77 0/1 99 50 23 27 0.54 intronic rs117767958 SLC5A4 AU NM_014227 exon14 c.35700+91C>T 0.0203674 0.0982 Uncertain 22_32753972_G->A 22 32753972 32753972 G A snp 508.77 0/1 99 72 43 29 0.4 UTR5 rs11912799 RFPL3 AU 0.165335 0.4583 Uncertain 22_32754036_G->A 22 32754036 32754036 G A snp 1927.77 0/1 99 200 111 89 0.45 UTR5 rs11089557 RFPL3 AU 0.144369 0.4544 0.045995 0.1014 0.4761 Uncertain 22_32754103_A->C 22 32754103 32754103 A C snp 2867.77 0/1 99 250 137 113 0.45 exonic rs58637580 RFPL3 AU nonsynonymous SNV NM_001098535 exon1 c.A45C p.Q15H 0.144569 0.4583 0.042756 0.1002 0.4770 1 T 0.0 P -0.977 T 0.0 T 0.0 T Pathogenic 22_32754230_A->G 22 32754230 32754230 A G snp 3188.81 0/1 99 246 122 124 0.5 exonic rs57676160 RFPL3 AU nonsynonymous SNV NM_001098535 exon1 c.A172G p.T58A 0.147165 0.4603 0.048747 0.0999 0.4694 0.9 T 0.0 P -0.967 T 0.0 T 0.001 T Pathogenic 22_32754232_C->T 22 32754232 32754232 C T snp 3171.77 0/1 99 246 123 123 0.5 exonic rs57606003 RFPL3 AU synonymous SNV NM_001098535 exon1 c.C174T p.T58T 0.144569 0.4583 0.047517 0.0991 0.4683 Uncertain 22_32754306_T->C 22 32754306 32754306 T C snp 3292.77 0/1 99 231 103 128 0.55 exonic rs16987625 RFPL3 AU nonsynonymous SNV NM_001098535 exon1 c.T248C p.M83T 0.145767 0.4583 0.052053 0.1011 0.4818 0.43 T 0.0 P -0.924 T 0.0 T 0.0 T Pathogenic 22_32754500_C->G 22 32754500 32754500 C G snp 1033.77 0/1 99 89 50 39 0.44 intronic rs5754006 RFPL3 AU NM_006604 exon2 c.286+69C>G 0.144569 0.4583 Uncertain 22_32754513_G->- 22 32754513 32754513 G - indel 1064.73 0/1 99 84 45 39 0.46 intronic rs61625826 RFPL3 AU NM_006604 exon2 c.286+82delG 0.145767 0.4583 Uncertain 22_32754561_C->G 22 32754561 32754561 C G snp 355.77 0/1 99 26 14 12 0.46 intronic rs5754007 RFPL3 AU NM_006604 exon2 c.286+130C>G 0.145767 0.4583 Uncertain 22_32756407_A->G 22 32756407 32756407 A G snp 2662.77 0/1 99 250 138 112 0.45 exonic rs5749408 RFPL3 AU nonsynonymous SNV NM_001098535 exon2 c.A542G p.Y181C 0.169928 0.4583 0.075219 0.1087 0.4801 0.06 T 1.000 P -1.021 T 0.411 T 0.093 T Pathogenic 22_32756555_G->C 22 32756555 32756555 G C snp 2054.77 0/1 99 194 111 83 0.43 exonic rs136471 RFPL3 AU synonymous SNV NM_001098535 exon2 c.G690C p.T230T 0.155751 0.4603 0.1024 0.4800 Uncertain 22_32756744_A->G 22 32756744 32756744 A G snp 1757.77 0/1 99 138 57 81 0.59 exonic rs2076035 RFPL3 AU synonymous SNV NM_001098535 exon2 c.A879G p.Q293Q 0.4109 0.5356 Uncertain 22_32756831_A->- 22 32756831 32756831 A - indel 792.73 0/1 99 74 33 41 0.55 ncRNA_splicing rs67352955 RFPL3S AU 0.145767 0.4583 0.069435 0.1081 0.4897 Uncertain 22_32756899_T->C 22 32756899 32756899 T C snp 434.77 0/1 99 37 19 18 0.49 ncRNA_intronic rs5749409 RFPL3S AU 0.145767 0.4583 Uncertain 22_32759025_G->C 22 32759025 32759025 G C snp 1179.77 0/1 99 103 51 52 0.5 ncRNA_exonic rs5998440 RFPL3S AU 0.401558 0.5288 0.2659 0.5329 0 D 0.0 P -0.921 T Uncertain 22_32763636_T->- 22 32763636 32763636 T - indel 761.73 0/1 99 68 28 40 0.59 ncRNA_intronic rs72565573 RFPL3S AU 0.153355 0.4583 0.2481 0.4976 Uncertain 22_32763787_T->C 22 32763787 32763787 T C snp 428.77 0/1 99 50 30 20 0.4 ncRNA_intronic rs738267 RFPL3S AU 0.277556 0.4812 Uncertain 22_32764388_T->C 22 32764388 32764388 T C snp 798.77 0/1 99 75 45 30 0.4 ncRNA_intronic rs5998456 RFPL3S AU 0.527955 0.5437 Uncertain 22_32764397_T->C 22 32764397 32764397 T C snp 1017.77 0/1 99 92 53 39 0.42 ncRNA_intronic rs5998457 RFPL3S AU 0.145767 0.4583 Uncertain 22_32764760_C->T 22 32764760 32764760 C T snp 175.77 0/1 99 14 8 6 0.43 ncRNA_intronic rs5998459 RFPL3S AU 0.146166 0.4593 Uncertain 22_32784051_T->C 22 32784051 32784051 T C snp 1235.77 0/1 99 145 87 58 0.4 exonic rs11635 RTCB AU synonymous SNV NM_014306 exon12 c.A1446G p.V482V 0.163139 0.4593 0.072044 0.1064 0.4661 Uncertain 22_32791003_A->C 22 32791003 32791003 A C snp 150.77 0/1 99 28 21 7 0.25 intronic rs2072818 RTCB AU NM_014306 exon4 c.7034-9A>C 0.624002 0.5556 0.638705 0.5626 0.5750 Uncertain 22_32791930_C->- 22 32791930 32791930 C - indel 361.73 0/1 99 19 6 13 0.68 intronic rs3215463 RTCB AU NM_014306 exon5 c.8082-130delC 0.623003 0.5585 Uncertain 22_32794124_T->C 22 32794124 32794124 T C snp 386.77 0/1 99 23 9 14 0.61 intronic rs776755182 RTCB AU NM_014306 exon6 c.10109+37T>C 0.0002 0.0027 Uncertain 22_32795641_C->T 22 32795641 32795641 C T snp 1229.77 0/1 99 115 60 55 0.48 exonic rs5749426 RTCB AU synonymous SNV NM_014306 exon6 c.G603A p.Q201Q 0.445687 0.5179 0.437414 0.3881 0.5366 Uncertain 22_32796247_G->C 22 32796247 32796247 G C snp 1406.77 0/1 99 124 63 61 0.49 intronic rs737779 RTCB AU NM_014306 exon7 c.11768+501G>C 0.362819 0.504 Uncertain 22_32804313_G->A 22 32804313 32804313 G A snp 685.77 0/1 99 45 20 25 0.56 intronic rs5754073 RTCB AU NM_014306 exon10 c.20251+84G>A 0.739217 0.6865 Uncertain 22_32804656_G->A 22 32804656 32804656 G A snp 1135.77 0/1 99 90 44 46 0.51 intronic rs2076043 RTCB AU NM_014306 exon11 c.20763-85G>A 0.739217 0.6865 Uncertain 22_32811952_A->G 22 32811952 32811952 A G snp 679.77 0/1 99 61 31 30 0.49 exonic rs5998478 BPIFC AU nonsynonymous SNV NM_174932 exon14 c.T1351C p.S451P 0.620807 0.5565 0.630555 0.5549 0.5749 1 T 0.000 P -1.010 T 0.0 T 0.0 T Pathogenic 22_32828224_C->T 22 32828224 32828224 C T snp 50.74 1/1 6 2 0 2 1.0 intronic rs9609550 BPIFC AU NM_174932 exon6 c.18070-135C>T 0.240415 0.0417 Uncertain 22_32831540_C->T 22 32831540 32831540 C T snp 132.77 0/1 99 13 8 5 0.38 intronic rs2076050 BPIFC AU NM_174932 exon8 c.21401-150C>T 0.390176 0.376 Uncertain 22_32871227_C->T 22 32871227 32871227 C T snp 357.77 0/1 99 28 15 13 0.46 intronic rs8136485 FBXO7 AR NM_012179 exon1 c.122+116C>T 0.166733 0.1567 Uncertain 22_32871383_T->G 22 32871383 32871383 T G snp 928.77 0/1 99 101 60 41 0.41 intronic rs8137714 FBXO7 AR NM_001033024 exon1 c.37-2T>G 0.154952 0.1567 0.187150 0.1873 0.1488 0.16 T 0.0 P -1.069 T 0.001 T 0.001 T Uncertain 22_32871442_C->A 22 32871442 32871442 C A snp 1084.77 0/1 99 117 66 51 0.44 intronic rs8140067 FBXO7 AR NM_001033024 exon1 c.37+57C>A 0.153554 0.1548 Uncertain 22_32875190_G->A 22 32875190 32875190 G A snp 2249.77 0/1 99 215 128 87 0.4 exonic rs11107 FBXO7 AR nonsynonymous SNV NM_012179 exon2 c.G345A p.M115I 0.48742 0.6915 0.372290 0.4400 0.6908 0.19 T 0.0 P -0.912 T 0.0 T 0.0 T ID=CM1212336;DIS=Mean cell haemoglobin, association with;TAG=DP;PUB=23222517 DP Pathogenic 22_32886998_T->C 22 32886998 32886998 T C snp 233.77 0/1 99 16 6 10 0.63 intronic rs738982 FBXO7 AR NM_012179 exon6 c.16083-74T>C 0.494209 0.6925 Uncertain 22_32887150_C->T 22 32887150 32887150 C T snp 962.77 0/1 99 109 64 45 0.41 exonic rs9726 FBXO7 AR synonymous SNV NM_012179 exon6 c.C949T p.L317L 0.48762 0.6925 0.372213 0.4400 0.6896 Uncertain 22_32891368_-->TC 22 32891368 32891368 - TC indel 322.73 0/1 99 23 12 11 0.48 intronic rs10648473 FBXO7 AR NM_012179 exon8 c.20490-111insTC 0.495208 0.6915 Uncertain 22_32924733_C->G 22 32924733 32924733 C G snp 199.77 0/1 99 29 20 9 0.31 intronic rs135123 SYN3 AU NM_133633 exon3 c.15066-127C>G 0.141174 0.0685 Uncertain 22_32934139_C->T 22 32934139 32934139 C T snp 1645.77 0/1 99 106 36 70 0.66 intronic rs2239764 SYN3 AU NM_133633 exon5 c.24302+43C>T 0.0537141 0.1071 0.028833 0.0396 0.1155 Uncertain 22_32934274_T->G 22 32934274 32934274 T G snp 562.77 0/1 99 29 9 20 0.69 intronic rs2239766 SYN3 AU NM_133633 exon5 c.24302+178T>G 0.724042 0.9177 Uncertain 22_32937828_C->T 22 32937828 32937828 C T snp 1032.77 0/1 99 78 40 38 0.49 intronic rs5998533 SYN3 AU NM_133633 exon6 c.27905+129C>T 0.16234 0.1181 Uncertain 22_33376840_T->- 22 33376840 33376840 T - indel 130.8 1/1 18 13 0 13 1.0 intronic rs36093480 SYN3 AU NM_133633 exon11 c.466893+153delT 0.458267 0.7252 Uncertain 22_33562887_G->T 22 33562887 33562887 G T snp 798.77 0/1 99 63 29 34 0.54 intergenic rs9609729 SYN3 AU 0.498403 0.3413 Uncertain 22_33672894_C->T 22 33672894 33672894 C T snp 276.77 0/1 99 19 10 9 0.47 intronic rs2075921 LARGE AU NM_133642 exon2 c.2633-151C>T 0.0890575 0.1905 Uncertain 22_33679458_T->A 22 33679458 33679458 T A snp 310.77 0/1 99 24 11 13 0.54 intronic rs377487374 LARGE AU NM_133642 exon3 c.8922+124T>A 0.000399361 0.002 Uncertain 22_33832735_A->G 22 33832735 33832735 A G snp 31.77 0/1 60 7 5 2 0.29 intronic rs713740 LARGE AU NM_133642 exon9 c.157839+4484A>G 0.592252 0.3135 Uncertain 22_34022284_G->A 22 34022284 34022284 G A snp 1334.77 0/1 99 108 56 52 0.48 exonic rs86487 LARGE AU synonymous SNV NM_004737 exon5 c.C435T p.A145A 0.412939 0.5615 0.375211 0.4771 0.5833 Uncertain 22_34157526_G->A 22 34157526 34157526 G A snp 185.9 1/1 15 7 0 7 1.0 UTR5 rs16992986 LARGE AU 0.101038 0.2659 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000126571.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 22_35463162_A->G 22 35463162 35463162 A G snp 866.77 0/1 99 70 32 38 0.54 exonic rs361863 ISX AU nonsynonymous SNV NM_001008494 exon1 c.A82G p.S28G 0.79992 0.8552 0.725896 0.7227 0.8690 0.44 T 0.0 P -0.932 T 0.0 T 0.0 T Pathogenic 22_35463179_T->C 22 35463179 35463179 T C snp 1008.77 0/1 99 79 35 44 0.56 exonic rs361668 ISX AU synonymous SNV NM_001008494 exon1 c.T99C p.I33I 0.79972 0.8552 0.725819 0.7243 0.8681 Uncertain 22_35463249_C->T 22 35463249 35463249 C T snp 1061.77 0/1 99 81 33 48 0.59 exonic rs362090 ISX AU nonsynonymous SNV NM_001008494 exon1 c.C169T p.P57S 0.57508 0.7827 0.487542 0.5727 0.8003 0.76 T 0.0 P -0.975 T 0.002 T 0.001 T Pathogenic 22_35478486_A->C 22 35478486 35478486 A C snp 2050.77 0/1 99 150 67 83 0.55 intronic rs2899241 ISX AU NM_001303508 exon3 c.15430-24A>C 0.645567 0.3601 0.765647 0.6736 0.3510 Uncertain 22_35478688_C->T 22 35478688 35478688 C T snp 2042.77 0/1 99 140 66 74 0.53 intronic rs725267 ISX AU NM_001303508 exon3 c.15582+26C>T 0.339058 0.1488 0.475012 0.4246 0.1375 Uncertain 22_35481776_T->C 22 35481776 35481776 T C snp 714.77 0/1 99 54 26 28 0.52 UTR3 rs3810619 ISX AU 0.64976 0.372 Uncertain 22_35658225_A->G 22 35658225 35658225 A G snp 973.77 1/1 72 32 0 32 1.0 intronic rs4820189 HMGXB4 AU 0.471845 0.5258 Uncertain 22_35660875_G->T 22 35660875 35660875 G T snp 2370.77 1/1 99 84 0 84 1.0 exonic rs1053593 HMGXB4 AU nonsynonymous SNV NM_001003681 exon5 c.G494T p.G165V 0.452476 0.5248 0.489390 0.5779 0.5431 0.13 T 0.0 P -0.907 T 0.012 T 0.022 T Pathogenic 22_35679951_T->C 22 35679951 35679951 T C snp 4077.77 1/1 99 159 0 159 1.0 splicing rs2272789 HMGXB4 AU NM_001003681 exon6 c.21571-3T>C 0.553914 0.6091 0.581424 0.6336 0.6189 Pathogenic 22_35680095_G->A 22 35680095 35680095 G A snp 2043.77 1/1 99 72 0 72 1.0 intronic rs2272790 HMGXB4 AU NM_001003681 exon6 c.21653+59G>A 0.641773 0.7837 0.633158 Uncertain 22_35681893_G->C 22 35681893 35681893 G C snp 56.74 1/1 6 2 0 2 1.0 intronic rs1543303 HMGXB4 AU NM_001003681 exon7 c.23606-96G>C 0.476038 0.5238 Uncertain 22_35683238_T->C 22 35683238 35683238 T C snp 254.8 1/1 21 8 0 8 1.0 intronic rs741995 HMGXB4 AU NM_001003681 exon8 c.24956-101T>C 0.453674 0.5248 Uncertain 22_35684533_G->C 22 35684533 35684533 G C snp 221.84 1/1 18 7 0 7 1.0 intronic rs5750093 HMGXB4 AU NM_001003681 exon9 c.26017+133G>C 0.927516 0.999 Uncertain 22_35695802_G->A 22 35695802 35695802 G A snp 917.77 1/1 69 26 0 26 1.0 UTR5 rs4461 TOM1 AU 0.466653 0.5179 Uncertain 22_35696077_G->C 22 35696077 35696077 G C snp 1462.77 1/1 99 44 0 44 1.0 intronic rs138728 TOM1 AU NM_001135730 exon1 c.52+104G>C 0.471446 0.5169 Uncertain 22_35741820_G->A 22 35741820 35741820 G A snp 1398.77 0/1 99 130 70 60 0.46 intronic rs133398 TOM1 AU NM_001135730 exon12 c.45856+43G>A 0.197883 0.376 0.145856 0.1827 0.3969 Uncertain 22_35741863_A->G 22 35741863 35741863 A G snp 1267.77 0/1 99 119 61 58 0.49 intronic rs133399 TOM1 AU NM_001135730 exon12 c.45856+86A>G 0.688498 0.745 Uncertain 22_35797333_T->C 22 35797333 35797333 T C snp 1589.77 0/1 99 158 88 70 0.44 intronic rs743815 MCM5 AU NM_006739 exon2 c.167+735T>C 0.483826 0.2887 0.5339 0.2881 Uncertain 22_35799542_C->T 22 35799542 35799542 C T snp 534.77 0/1 99 57 37 20 0.35 intronic rs713618 MCM5 AU NM_006739 exon4 c.3104+7C>T 0.477436 0.2877 0.573658 0.5307 0.2842 Uncertain 22_35808708_C->T 22 35808708 35808708 C T snp 961.77 0/1 99 93 49 44 0.47 intronic rs2307344 MCM5 AU NM_006739 exon8 c.12243+34C>T 0.0846645 0.1458 0.075348 0.0806 0.1393 Uncertain 22_35810052_T->C 22 35810052 35810052 T C snp 1997.77 1/1 99 59 0 59 1.0 intronic rs80433 MCM5 AU NM_006739 exon9 c.13548+73T>C 0.733826 0.504 Uncertain 22_35812505_TGTGTGTGTGTGTGTGTGTG->- 22 35812505 35812524 TGTGTGTGTGTGTGTGTGTG - indel 4091.73 ./1 99 47 1 46 0.98 intronic MCM5 AU NM_006739 exon11 c.15966+108_16199-106delTGTGTGTGTGTGTGTGTGTG Uncertain 22_35812505_TGTGTGTG->- 22 35812505 35812512 TGTGTGTG - indel 4091.73 ./1 99 47 1 46 0.98 intronic MCM5 AU NM_006739 exon11 c.15966+108_15966+115delTGTGTGTG Uncertain 22_35817257_G->A 22 35817257 35817257 G A snp 110.77 0/1 99 10 4 6 0.6 intronic rs2071743 MCM5 AU NM_006739 exon15 c.20879-53G>A 0.0924521 0.1488 Uncertain 22_35817553_C->T 22 35817553 35817553 C T snp 1182.77 0/1 99 110 58 52 0.47 intronic rs2071744 MCM5 AU NM_006739 exon15 c.21022+100C>T 0.16254 0.2331 0.2203 0.2323 Uncertain 22_35817597_C->A 22 35817597 35817597 C A snp 2226.77 1/1 99 81 0 81 1.0 intronic rs133431 MCM5 AU NM_006739 exon15 c.21022+144C>A 0.552716 0.4335 0.5060 0.4722 Uncertain 22_36006923_-->C 22 36006923 36006923 - C indel 1320.73 1/1 96 32 0 32 1.0 intronic rs35171458 MB AU NM_005368 exon2 c.3587-7insC 1 1 1.0000 1 Uncertain 22_36007045_G->A 22 36007045 36007045 G A snp 3956.77 1/1 99 150 2 148 0.99 exonic rs7292 MB AU synonymous SNV NM_005368 exon2 c.C204T p.T68T 0.564297 0.747 0.495694 0.5118 0.7513 Uncertain 22_36007075_C->T 22 36007075 36007075 C T snp 3727.77 1/1 99 142 2 140 0.99 exonic rs7293 MB AU synonymous SNV NM_005368 exon2 c.G174A p.A58A 0.53095 0.747 0.460557 0.5019 0.7513 Uncertain 22_36114047_C->T 22 36114047 36114047 C T snp 519.77 0/1 99 59 35 24 0.41 intronic rs4821438 APOL5 AU NM_030642 exon1 c.55+74C>T 0.746006 0.756 0.732151 Uncertain 22_36114054_C->T 22 36114054 36114054 C T snp 481.77 0/1 99 55 32 23 0.42 intronic rs2899256 APOL5 AU NM_030642 exon1 c.55+81C>T 0.746006 0.756 Uncertain 22_36116493_-->CTAA 22 36116493 36116493 - CTAA indel 1409.73 0/1 99 55 31 24 0.44 intronic rs34534260 APOL5 AU NM_030642 exon2 c.2696-121insCTAA Uncertain 22_36116535_A->G 22 36116535 36116535 A G snp 1021.77 0/1 99 110 62 48 0.44 intronic rs33921037 APOL5 AU NM_030642 exon2 c.2696-79A>G 0.405152 0.6012 Uncertain 22_36122930_C->T 22 36122930 36122930 C T snp 2041.77 0/1 99 167 86 81 0.49 exonic rs2076671 APOL5 AU nonsynonymous SNV NM_030642 exon3 c.C815T p.T272M 0.386382 0.5962 0.313163 0.3282 0.5962 0.03 T 0.0 P -0.956 T 0.855 T 0.21 P Pathogenic 22_36124860_C->G 22 36124860 36124860 C G snp 1313.77 0/1 99 117 60 57 0.49 exonic rs2076673 APOL5 AU nonsynonymous SNV NM_030642 exon4 c.C1217G p.S406C 0.362021 0.5942 0.280947 0.3233 0.6001 0 D 0.0 P -0.955 T 0.998 D 0.953 D Pathogenic 22_36140130_T->G 22 36140130 36140130 T G snp 531.77 0/1 99 31 11 20 0.65 UTR3 rs117617596 RBFOX2 AU 0.00858626 0.0079 Uncertain 22_36156425_C->T 22 36156425 36156425 C T snp 888.77 1/1 63 33 0 33 1.0 intronic rs5755942 RBFOX2 AU NM_001082577 exon4 c.15838+346C>T 0.0529153 0.1776 Uncertain 22_36424450_A->C 22 36424450 36424450 A C snp 257.8 1/1 21 9 0 9 1.0 exonic rs9607299 RBFOX2 AU nonsynonymous SNV NM_001082578 exon1 c.T24G p.H8Q 1 1 0.53 T 1.000 P -1.012 T 0.0 T 0.0 T Pathogenic 22_36537500_A->T 22 36537500 36537500 A T snp 3345.77 0/1 99 250 127 123 0.49 exonic rs132618 APOL3 AU synonymous SNV NM_145640 exon3 c.T957A p.G319G 0.36262 0.3502 0.365062 0.4488 0.3275 Uncertain 22_36537893_A->G 22 36537893 36537893 A G snp 3150.77 0/1 99 250 125 125 0.5 exonic rs3827346 APOL3 AU synonymous SNV NM_145640 exon3 c.T564C p.N188N 0.259185 0.623 0.139397 0.2341 0.6517 Uncertain 22_36541725_G->T 22 36541725 36541725 G T snp 108.77 0/1 99 11 6 5 0.45 intronic rs1807672 APOL3 AU NM_145641 exon2 c.4400+78G>T 0.472644 0.1607 Uncertain 22_36545016_C->G 22 36545016 36545016 C G snp 449.77 0/1 99 32 13 19 0.59 intronic rs9610412 APOL3 AU NM_145641 exon2 c.4400+3369C>G 0.18151 0.0337 0.226237 Uncertain 22_36545137_A->T 22 36545137 36545137 A T snp 2155.77 1/1 99 83 1 82 0.99 intronic rs132642 APOL3 AU NM_145641 exon2 c.4400+3490A>T 0.941693 0.9911 0.882900 0.8839 0.9941 Uncertain 22_36545780_C->T 22 36545780 36545780 C T snp 354.77 0/1 99 19 6 13 0.68 intronic rs7290574 APOL3 AU NM_145641 exon2 c.4400+4133C>T 0.352636 0.1617 Uncertain 22_36545826_T->C 22 36545826 36545826 T C snp 2007.77 1/1 99 64 0 64 1.0 intronic rs132644 APOL3 AU NM_145641 exon2 c.4400+4179T>C 0.746206 0.9881 0.8677 0.9925 Uncertain 22_36553181_A->G 22 36553181 36553181 A G snp 1526.77 0/1 99 120 59 61 0.51 intronic rs132649 APOL3 AU NM_145641 exon3 c.19469-3535A>G 0.420927 0.8274 Uncertain 22_36556698_C->T 22 36556698 36556698 C T snp 343.77 0/1 99 25 11 14 0.56 intronic rs45577431 APOL3 AU NM_145641 exon3 c.19469-18C>T 0.0305511 0.0268 0.046517 0.0448 0.0215 Uncertain 22_36556823_G->T 22 36556823 36556823 G T snp 3734.77 1/1 99 144 1 143 0.99 exonic rs132653 APOL3 AU nonsynonymous SNV NM_145640 exon1 c.C117A p.S39R 0.784744 0.9762 0.715900 0.8306 0.9760 0.05 T 0.000 P -0.824 T 0.976 D 0.447 D Pathogenic 22_36556964_C->T 22 36556964 36556964 C T snp 1314.77 1/1 96 37 0 37 1.0 UTR5 rs916334 APOL3 AU 0.450879 0.8403 0.290174 0.4677 0.8547 Uncertain 22_36587202_G->A 22 36587202 36587202 G A snp 1057.77 0/1 99 96 46 50 0.52 exonic rs6000172 APOL4 AD unknown 0.646965 0.8234 0.557735 0.5621 0.8257 0.18 T 0.0 P -1.056 T 0.216 T 0.102 T Uncertain 22_36587223_G->T 22 36587223 36587223 G T snp 1381.77 0/1 99 105 48 57 0.54 exonic rs6000173 APOL4 AD unknown 0.647165 0.8244 0.556223 0.5550 0.8243 0.12 T 0.0 P -1.049 T 0.996 D 0.977 D Uncertain 22_36587279_A->G 22 36587279 36587279 A G snp 1448.77 0/1 99 108 54 54 0.5 exonic rs6000174 APOL4 AD unknown 0.646965 0.8234 0.559161 0.5460 0.8254 Uncertain 22_36587486_A->G 22 36587486 36587486 A G snp 2170.77 0/1 99 249 157 92 0.37 exonic rs2227167 APOL4 AD unknown 0.647364 0.8244 0.556027 0.5456 0.8250 Uncertain 22_36587511_C->T 22 36587511 36587511 C T snp 2155.77 0/1 99 250 162 88 0.35 exonic rs2227168 APOL4 AD unknown 0.653155 0.8442 0.558864 0.5491 0.85 0.4 T 0.000 P -1.026 T 0.002 T 0.002 T Uncertain 22_36587704_T->C 22 36587704 36587704 T C snp 3692.77 0/1 99 250 118 132 0.53 exonic rs132700 APOL4 AD unknown 0.298123 0.122 0.313578 0.2941 0.1106 0.82 T 0.0 P -0.972 T 0.0 T 0.0 T Uncertain 22_36587845_-->CT 22 36587845 36587845 - CT indel 5447.73 0/1 99 248 122 126 0.51 exonic rs3075364 APOL4 AD unknown 0.675719 0.8244 0.593016 0.5544 0.8256 Uncertain 22_36587952_C->T 22 36587952 36587952 C T snp 2281.77 0/1 99 167 81 86 0.51 exonic rs2227169 APOL4 AD unknown 0.642572 0.8244 0.553531 0.5394 0.8252 Uncertain 22_36591380_A->G 22 36591380 36591380 A G snp 2446.77 1/1 99 91 0 91 1.0 exonic rs2007468 APOL4 AD unknown 0.700679 0.8502 0.612873 0.5704 0.8512 Uncertain 22_36595244_A->G 22 36595244 36595244 A G snp 261.8 1/1 21 7 0 7 1.0 intronic rs132712 APOL4 AD NM_030643 exon3 c.8253-131A>G 0.546925 0.8611 Uncertain 22_36595254_G->A 22 36595254 36595254 G A snp 377.77 1/1 30 10 0 10 1.0 intronic rs132713 APOL4 AD NM_030643 exon3 c.8253-121G>A 0.661741 0.8899 Uncertain 22_36597744_A->C 22 36597744 36597744 A C snp 848.77 0/1 99 70 35 35 0.5 splicing rs9610445 APOL4 AD NM_030643 exon4 c.10623-1A>C 0.118011 0.0645 0.122558 0.1266 0.0898 0.003 P Pathogenic 22_36597877_G->A 22 36597877 36597877 G A snp 3446.77 1/1 99 114 0 114 1.0 UTR5 rs132734 APOL4 AD 0.614417 0.8929 Uncertain 22_36597881_G->T 22 36597881 36597881 G T snp 1335.77 0/1 99 113 61 52 0.46 UTR5 rs132735 APOL4 AD 0.499002 0.8323 Uncertain 22_36598049_C->G 22 36598049 36598049 C G snp 3230.05 1/1 99 111 0 111 1.0 exonic rs80587 APOL4 AD unknown 0.621006 0.9028 0.475780 0.4810 0.9183 1 T 0.000 P -0.967 T 0.0 T 0.0 T Uncertain 22_36598058_T->C 22 36598058 36598058 T C snp 2991.77 1/1 99 104 0 104 1.0 exonic rs132736 APOL4 AD unknown 0.621206 0.9038 0.475934 0.4810 0.9183 1 T 0.000 P -0.972 T 0.0 T 0.0 T Uncertain 22_36598081_A->T 22 36598081 36598081 A T snp 776.77 0/1 99 73 38 35 0.48 exonic rs6000181 APOL4 AD unknown 0.0766773 0.0694 0.084346 0.0847 0.0622 0 D 0.000 P -1.018 T 0.043 T 0.003 T Uncertain 22_36598187_G->C 22 36598187 36598187 G C snp 388.77 1/1 30 11 0 11 1.0 intronic rs132737 APOL4 AD NM_030643 exon5 c.10979+86G>C 0.620607 0.9028 Uncertain 22_36623731_T->C 22 36623731 36623731 T C snp 8160.77 1/1 99 250 0 250 1.0 exonic rs132760 APOL2 AD nonsynonymous SNV NM_030882 exon5 c.A733G p.I245V 1 1 0.9999 1 0.45 T 0.0 P -1.062 T 0.0 T 0.001 T Pathogenic 22_36635445_A->G 22 36635445 36635445 A G snp 250.77 0/1 99 24 12 12 0.5 intronic rs1974458 APOL2 AD NM_145637 exon5 c.12037-41A>G 0.289936 0.3175 0.3081 0.3315 Uncertain 22_36651100_A->G 22 36651100 36651100 A G snp 2180.77 0/1 99 243 139 104 0.43 intronic rs565674111 APOL1 AU NM_003661 exon2 c.44+55A>G 0.00139776 0.0069 Uncertain 22_36656138_A->T 22 36656138 36656138 A T snp 50.74 1/1 6 2 0 2 1.0 intronic rs136154 APOL1 AU NM_003661 exon5 c.6640-1503A>T 0.863219 0.7966 Uncertain 22_36657474_A->G 22 36657474 36657474 A G snp 907.77 1/1 69 23 0 23 1.0 intronic rs136162 APOL1 AU NM_003661 exon5 c.6640-167A>G 0.860823 0.7976 Uncertain 22_36657596_A->G 22 36657596 36657596 A G snp 6359.77 1/1 99 234 0 234 1.0 intronic rs713929 APOL1 AU NM_003661 exon5 c.6640-45A>G 0.864018 0.7976 0.851453 0.8371 0.8332 Uncertain 22_36657628_T->G 22 36657628 36657628 T G snp 7011.77 1/1 99 249 2 247 0.99 intronic rs136163 APOL1 AU NM_003661 exon5 c.6640-13T>G 0.863818 0.7966 0.848070 0.8342 0.8329 Uncertain 22_36657789_T->C 22 36657789 36657789 T C snp 2916.77 1/1 99 86 0 86 1.0 intronic rs136164 APOL1 AU NM_003661 exon5 c.6767+21T>C 0.665136 0.7728 0.580348 0.6458 0.8121 Uncertain 22_36661149_A->G 22 36661149 36661149 A G snp 430.77 1/1 36 13 0 13 1.0 intronic rs136169 APOL1 AU NM_003661 exon6 c.10195-47A>G 0.863818 0.7966 0.849200 0.8339 0.8301 Uncertain 22_36661152_G->A 22 36661152 36661152 G A snp 505.77 1/1 42 14 0 14 1.0 intronic rs28480494 APOL1 AU NM_003661 exon6 c.10195-44G>A 0.861022 0.7966 0.849200 0.8326 0.8300 Uncertain 22_36661330_G->A 22 36661330 36661330 G A snp 4148.77 1/1 99 148 0 148 1.0 exonic rs2239785 APOL1 AU nonsynonymous SNV NM_003661 exon6 c.G448A p.E150K 0.678115 0.7956 0.652853 0.7800 0.8330 0.66 T 0.0 P -0.927 T 0.986 D 0.86 D ID=CM0911480;DIS=Increased triglyceride levels, in endogenous hypertriglyceridaemic subjects, association with;TAG=DP;PUB=19239905 DP Pathogenic 22_36661536_C->A 22 36661536 36661536 C A snp 6971.77 1/1 99 250 0 250 1.0 exonic rs136174 APOL1 AU synonymous SNV NM_003661 exon6 c.C654A p.A218A 0.864217 0.7976 0.846763 0.8360 0.8350 Uncertain 22_36661566_G->A 22 36661566 36661566 G A snp 6876.77 1/1 99 238 0 238 1.0 exonic rs136175 APOL1 AU nonsynonymous SNV NM_003661 exon6 c.G684A p.M228I 0.864217 0.7976 0.846917 0.8364 0.8350 0.27 T 0.0 P -1.065 T 0.001 T 0.0 T ID=CM0911481;DIS=Increased triglyceride levels, in endogenous hypertriglyceridaemic subjects, association with;TAG=DP;PUB=19239905 DP Pathogenic 22_36661646_G->A 22 36661646 36661646 G A snp 5495.77 1/1 99 197 1 196 0.99 exonic rs136176 APOL1 AU nonsynonymous SNV NM_003661 exon6 c.G764A p.R255K 0.86262 0.7976 0.848993 0.8349 0.8339 1 T 0.0 P -0.903 T 0.0 T 0.0 T Pathogenic 22_36661842_G->A 22 36661842 36661842 G A snp 5297.77 1/1 99 173 1 172 0.99 exonic rs136177 APOL1 AU synonymous SNV NM_003661 exon6 c.G960A p.R320R 0.853235 0.7966 0.839766 0.8319 0.8346 Uncertain 22_36684331_C->T 22 36684331 36684331 C T snp 1167.77 0/1 99 121 65 56 0.46 exonic rs5756130 MYH9 AD synonymous SNV NM_002473 exon34 c.G4899A p.R1633R 0.096246 0.0833 0.060664 0.0702 0.0981 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000037564.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 22_36690113_G->A 22 36690113 36690113 G A snp 1084.77 0/1 99 69 27 42 0.61 intronic rs4821478 MYH9 AD NM_002473 exon14 c.11424-24G>A 0.485623 0.2113 0.633420 0.5917 0.2274 Uncertain 22_36691607_A->C 22 36691607 36691607 A C snp 1004.77 1/1 72 36 0 36 1.0 exonic rs710181 MYH9 AD synonymous SNV NM_002473 exon26 c.T3429G p.A1143A 0.982628 0.999 0.971244 0.9766 0.9998 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000037556.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 22_36694954_C->G 22 36694954 36694954 C G snp 289.77 0/1 99 28 16 12 0.43 intronic rs41279999 MYH9 AD NM_002473 exon18 c.16251-10C>G 0.052516 0.1131 0.026142 0.0392 0.0909 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000037553.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 22_36695123_G->C 22 36695123 36695123 G C snp 458.77 0/1 99 54 35 19 0.35 intronic rs16996650 MYH9 AD NM_002473 exon18 c.16375+35G>C 0.052516 0.1131 0.026065 0.0392 0.0906 Uncertain 22_36695173_C->T 22 36695173 36695173 C T snp 1044.77 1/1 75 37 0 37 1.0 intronic rs2187776 MYH9 AD NM_002473 exon18 c.16375+85C>T 0.882588 0.999 Uncertain 22_36695247_G->T 22 36695247 36695247 G T snp 182.9 1/1 15 5 0 5 1.0 intronic rs4821480 MYH9 AD NM_002473 exon18 c.16375+159G>T 0.779952 0.999 Uncertain 22_36700175_A->G 22 36700175 36700175 A G snp 3241.77 0/1 99 248 118 130 0.52 exonic rs9619601 MYH9 AD synonymous SNV NM_002473 exon19 c.T2256C p.N752N 0.0603035 0.0962 0.044825 0.0545 0.1105 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000037552.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 22_36702300_C->T 22 36702300 36702300 C T snp 505.77 0/1 99 30 14 16 0.53 intronic rs1009150 MYH9 AD NM_002473 exon26 c.23746-159C>T 0.43151 0.2808 Uncertain 22_36705529_A->G 22 36705529 36705529 A G snp 4253.77 1/1 99 132 0 132 1.0 intronic rs1557529 MYH9 AD NM_002473 exon27 c.26728+88A>G 0.870807 0.999 Uncertain 22_36705622_G->A 22 36705622 36705622 G A snp 183.77 0/1 99 13 7 6 0.46 intronic rs1557530 MYH9 AD NM_002473 exon27 c.26728+181G>A 0.38139 0.2063 Uncertain 22_36705623_T->C 22 36705623 36705623 T C snp 181.77 0/1 99 13 7 6 0.46 intronic rs1557531 MYH9 AD NM_002473 exon27 c.26728+182T>C 0.391374 0.2063 Uncertain 22_36708084_C->T 22 36708084 36708084 C T snp 482.77 0/1 99 49 32 17 0.35 intronic rs2413396 MYH9 AD NM_002473 exon28 c.29380-9C>T 0.760783 0.9028 0.755497 0.8714 0.8899 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000037548.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 22_36708338_A->G 22 36708338 36708338 A G snp 869.77 0/1 99 67 32 35 0.52 intronic rs2157257 MYH9 AD NM_002473 exon28 c.29554+71A>G 0.38119 0.2073 Uncertain 22_36710047_T->C 22 36710047 36710047 T C snp 123.77 0/1 99 21 15 6 0.29 intronic rs5756141 MYH9 AD NM_002473 exon29 c.31476-142T>C 0.39357 0.2073 Uncertain 22_36710056_A->G 22 36710056 36710056 A G snp 240.77 0/1 99 26 16 10 0.38 intronic rs5756142 MYH9 AD NM_002473 exon29 c.31476-133A>G 0.39357 0.2073 Uncertain 22_36710183_T->C 22 36710183 36710183 T C snp 1386.77 0/1 99 158 88 70 0.44 intronic rs3752462 MYH9 AD NM_002473 exon29 c.31476-6T>C 0.39357 0.2073 0.534676 0.5614 0.2223 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000037547.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 22_36712472_A->G 22 36712472 36712472 A G snp 1427.77 1/1 99 40 0 40 1.0 intronic rs5756152 MYH9 AD NM_002473 exon30 c.33848-89A>G 0.901957 0.999 Uncertain 22_36718039_G->A 22 36718039 36718039 G A snp 84.28 1/1 9 4 0 4 1.0 intronic rs2269532 MYH9 AD NM_002473 exon35 c.39153+173G>A 0.397364 0.8095 Uncertain 22_36722490_C->A 22 36722490 36722490 C A snp 990.77 1/1 75 30 0 30 1.0 intronic rs8136069 MYH9 AD NM_002473 exon37 c.43899-122C>A 0.445887 0.8085 Uncertain 22_36722534_G->A 22 36722534 36722534 G A snp 1958.77 1/1 99 67 0 67 1.0 intronic rs8136336 MYH9 AD NM_002473 exon37 c.43899-78G>A 0.984225 0.999 Uncertain 22_36744887_C->- 22 36744887 36744887 C - indel 542.73 1/1 66 24 0 24 1.0 intronic rs548467551 MYH9 AD NM_002473 exon40 c.66235-61delC Uncertain 22_36962353_C->G 22 36962353 36962353 C G snp 2174.77 0/1 99 184 91 93 0.51 intronic rs2267338 CACNG2 AU NM_006078 exon2 c.2002-46C>G 0.549321 0.2857 0.587883 0.4939 0.2835 Uncertain 22_37154354_G->A 22 37154354 37154354 G A snp 517.77 0/1 99 49 24 25 0.51 UTR3 rs368923336 IFT27 AR 0.000077 7.414e-05 0 Uncertain 22_37159751_T->C 22 37159751 37159751 T C snp 349.78 1/1 27 9 0 9 1.0 intronic rs739001 IFT27 AR NM_001177701 exon3 c.5608-211T>C 1 1 Uncertain 22_37159819_T->C 22 37159819 37159819 T C snp 2631.77 1/1 99 77 0 77 1.0 intronic rs739002 IFT27 AR NM_001177701 exon3 c.5608-143T>C 0.777556 0.9127 0.7796 0.8987 Uncertain 22_37163080_C->T 22 37163080 37163080 C T snp 559.77 1/1 45 15 0 15 1.0 intronic rs1048015 IFT27 AR NM_001177701 exon5 c.8995-269C>T 0.601837 0.8671 Uncertain 22_37163329_C->T 22 37163329 37163329 C T snp 5874.77 1/1 99 229 1 228 1.0 intronic rs1048012 IFT27 AR NM_001177701 exon5 c.8995-20C>T 0.752596 0.9127 0.760803 0.7788 0.9099 Uncertain 22_37171611_A->G 22 37171611 37171611 A G snp 3666.77 1/1 99 125 0 125 1.0 intronic rs2009667 IFT27 AR NM_001177701 exon7 c.17363-106A>G 0.445487 0.8175 Uncertain 22_37196871_G->A 22 37196871 37196871 G A snp 1715.77 1/1 99 61 0 61 1.0 UTR3 rs3484 PVALB AU 0.507588 0.7024 0.445247 Uncertain 22_37196971_C->A 22 37196971 37196971 C A snp 1482.77 1/1 99 60 0 60 1.0 intronic rs2001063 PVALB AU NM_002854 exon1 c.29+9C>A 0.501997 0.7024 0.441412 0.4896 0.7129 Uncertain 22_37207667_T->A 22 37207667 37207667 T A snp 356.77 0/1 99 19 6 13 0.68 intronic rs34262500 PVALB AU NM_002854 exon2 c.12756-2022T>A 0.415136 0.1974 Uncertain 22_37260123_G->A 22 37260123 37260123 G A snp 1584.77 0/1 99 141 73 68 0.48 exonic rs10854695 NCF4 AR synonymous SNV NM_013416 exon2 c.G69A p.S23S 0.0982428 0.0734 0.068430 0.0398 0.0657 Uncertain 22_37260223_CTGACCTCTGAACCTTGCCCT->- 22 37260223 37260243 CTGACCTCTGAACCTTGCCCT - indel 12238.7 0/1 99 166 66 100 0.6 intronic rs373332800 NCF4 AR NM_000631 exon2 c.2958+52_2958+72delCTGACCTCTGAACCTTGCCCT 0.125799 0.0734 0.094255 0.0389 0.0481 Uncertain 22_37260813_A->G 22 37260813 37260813 A G snp 111.77 0/1 99 9 5 4 0.44 intronic rs2092031 NCF4 AR NM_000631 exon3 c.3747-147A>G 0.120008 0.0734 Uncertain 22_37267767_A->G 22 37267767 37267767 A G snp 712.77 0/1 99 72 40 32 0.44 intronic rs2072708 NCF4 AR NM_000631 exon6 c.10538+16A>G 0.626997 0.6865 0.632781 0.7033 0.6772 Uncertain 22_37268501_A->G 22 37268501 37268501 A G snp 809.77 0/1 99 54 24 30 0.56 intronic rs2072710 NCF4 AR NM_000631 exon7 c.11254+34A>G 0.629593 0.6865 0.632554 0.7192 0.6725 Uncertain 22_37268555_A->G 22 37268555 37268555 A G snp 489.77 0/1 99 30 12 18 0.6 intronic rs2072711 NCF4 AR NM_000631 exon7 c.11254+88A>G 0.828474 0.6875 Uncertain 22_37271802_C->T 22 37271802 37271802 C T snp 3296.77 0/1 99 250 133 117 0.47 exonic rs2072712 NCF4 AR synonymous SNV NM_013416 exon8 c.C735T p.Y245Y 0.131589 0.0645 0.117023 0.0933 0.0507 1.000 P Uncertain 22_37271882_T->C 22 37271882 37271882 T C snp 3381.77 0/1 99 248 121 127 0.51 exonic rs2075939 NCF4 AR nonsynonymous SNV NM_013416 exon8 c.T815C p.L272P 0.828075 0.6825 0.870060 0.8337 0.6688 0.000 P -0.957 T 0.0 T 0.0 T Pathogenic 22_37273742_G->A 22 37273742 37273742 G A snp 2533.77 0/1 99 250 143 107 0.43 UTR3 rs11552115 NCF4 AR 0.134585 0.0645 0.119176 0.0941 0.0516 Uncertain 22_37318175_C->T 22 37318175 37318175 C T snp 281.77 0/1 99 16 6 10 0.63 UTR5 rs117937233 CSF2RB AR 0.033147 0.0476 Uncertain 22_37328751_A->G 22 37328751 37328751 A G snp 596.77 1/1 45 17 0 17 1.0 intronic rs2075936 CSF2RB AR NM_000395 exon9 c.10557-55A>G 0.464657 0.7937 Uncertain 22_37328966_G->C 22 37328966 37328966 G C snp 2604.77 1/1 99 98 1 97 0.99 intronic rs1534879 CSF2RB AR NM_000395 exon9 c.10697+20G>C 0.460863 0.7946 0.388052 0.4996 0.8035 Uncertain 22_37330082_T->C 22 37330082 37330082 T C snp 1975.77 1/1 99 68 0 68 1.0 intronic rs2075937 CSF2RB AR NM_000395 exon10 c.11787+46T>C 0.422524 0.7986 0.340923 0.4748 0.8103 Uncertain 22_37331305_A->G 22 37331305 37331305 A G snp 3314.77 1/1 99 120 0 120 1.0 intronic rs2239749 CSF2RB AR NM_000395 exon11 c.13143-87A>G 0.467252 0.8165 Uncertain 22_37333794_A->G 22 37333794 37333794 A G snp 2577.77 1/1 99 91 0 91 1.0 exonic rs131840 CSF2RB AR synonymous SNV NM_000395 exon14 c.A1944G p.P648P 0.802316 0.9385 0.761572 0.8355 0.9514 Uncertain 22_37387119_C->G 22 37387119 37387119 C G snp 802.77 0/1 99 50 17 33 0.66 downstream rs5750354 TEX33 AU 0.28135 0.5288 Uncertain 22_37387757_G->T 22 37387757 37387757 G T snp 460.77 0/1 99 28 10 18 0.64 intronic rs5750355 TEX33 AU NM_001163857 exon2 c.413+125G>T 0.274161 0.5288 Uncertain 22_37398195_C->T 22 37398195 37398195 C T snp 1445.77 0/1 99 137 73 64 0.47 exonic rs743749 TEX33 AU nonsynonymous SNV NM_001163857 exon3 c.G172A p.A58T 0.274561 0.5357 0.179807 0.2876 0.5411 0.78 T 0.0 P -0.955 T 0.0 T 0.0 T Pathogenic 22_37398201_C->A 22 37398201 37398201 C A snp 1502.77 0/1 99 126 62 64 0.51 exonic rs743750 TEX33 AU nonsynonymous SNV NM_001163857 exon3 c.G166T p.A56S 0.277157 0.5347 0.181997 0.2869 0.5350 0.55 T 0.0 P -0.901 T 0.005 T 0.006 T Pathogenic 22_37407527_T->C 22 37407527 37407527 T C snp 46.78 0/1 27 3 1 2 0.67 intronic rs5756477 TST AU NM_001270483 exon1 c.299+161T>C 0.470248 0.5198 Uncertain 22_37453256_G->T 22 37453256 37453256 G T snp 311.77 0/1 99 20 7 13 0.65 intronic rs2235320 KCTD17 AD NM_024681 exon4 c.5658-181G>T 0.0802716 0.0843 Uncertain 22_37453259_A->G 22 37453259 37453259 A G snp 597.77 1/1 45 20 0 20 1.0 intronic rs710184 KCTD17 AD NM_024681 exon4 c.5658-178A>G 0.951677 1 Uncertain 22_37453452_C->T 22 37453452 37453452 C T snp 2284.77 1/1 99 86 0 86 1.0 exonic rs710185 KCTD17 AD synonymous SNV NM_001282684 exon4 c.C426T p.H142H 0.83766 0.9931 0.801092 0.8661 0.9979 1.000 P -1.002 T Likely benign 22_37462926_G->A 22 37462926 37462926 G A snp 1510.77 0/1 99 145 80 65 0.45 exonic rs2235321 TMPRSS6 AR synonymous SNV NM_153609 exon17 c.C2217T p.Y739Y 0.35603 0.4087 0.390051 0.3654 0.4442 Uncertain 22_37462936_A->G 22 37462936 37462936 A G snp 1476.77 0/1 99 153 88 65 0.42 exonic rs855791 TMPRSS6 AR nonsynonymous SNV NM_153609 exon17 c.T2207C p.V736A 0.604633 0.4345 0.658619 0.5730 0.4498 0.39 T 0.000 P -0.945 T 0.0 T 0.0 T ID=CM096696;DIS=Iron status and erythrocyte volume, association with;TAG=DFP;PUB=19820699 DFP Pathogenic 22_37464624_T->C 22 37464624 37464624 T C snp 663.77 0/1 99 78 51 27 0.35 intronic rs877908 TMPRSS6 AR NM_001289000 exon3 c.2536-31T>C 0.478634 0.4256 0.498255 0.3994 0.4719 Uncertain 22_37465386_TGGGG->- 22 37465386 37465390 TGGGG - indel 392.73 0/1 47 26 1 25 0.96 splicing rs200434923 TMPRSS6 AR NM_153609 exon3 c.3265+2_3265+6delTGGGG 0.448882 0.4266 0.461745 0.1180 0.1373 ID=COSM1484216;OCCURENCE=3(breast) Pathogenic 22_37469387_GATG->- 22 37469387 37469390 GATG - indel 582.73 0/1 99 29 17 12 0.41 intronic rs111916270 TMPRSS6 AR NM_153609 exon6 c.7452-184_7452-181delGATG 0.308506 0.3423 Uncertain 22_37469591_G->A 22 37469591 37469591 G A snp 2509.77 0/1 99 232 123 109 0.47 exonic rs4820268 TMPRSS6 AR synonymous SNV NM_153609 exon13 c.C1563T p.D521D 0.54353 0.4365 0.604875 0.5390 0.4760 Uncertain 22_37470536_C->T 22 37470536 37470536 C T snp 502.77 0/1 99 36 18 18 0.5 intronic rs2076086 TMPRSS6 AR NM_153609 exon7 c.8530-113C>T 0.404153 0.4157 Uncertain 22_37470604_G->A 22 37470604 37470604 G A snp 1278.77 0/1 99 103 53 50 0.49 intronic rs2072860 TMPRSS6 AR NM_153609 exon7 c.8530-45G>A 0.541933 0.4296 0.604737 0.5425 0.4708 Uncertain 22_37471385_G->A 22 37471385 37471385 G A snp 272.77 0/1 99 16 6 10 0.63 intronic rs9610643 TMPRSS6 AR NM_153609 exon8 c.9201+65G>A 0.380791 0.4008 Uncertain 22_37480155_C->T 22 37480155 37480155 C T snp 326.77 0/1 99 25 12 13 0.52 intronic rs2543521 TMPRSS6 AR NM_153609 exon9 c.18215-179C>T 0.236621 0.1677 0.2756 0.1729 Uncertain 22_37480181_A->G 22 37480181 37480181 A G snp 538.77 0/1 99 29 12 17 0.59 intronic rs2543520 TMPRSS6 AR NM_153609 exon9 c.18215-153A>G 0.236621 0.1677 0.2950 0.1815 Uncertain 22_37480269_A->G 22 37480269 37480269 A G snp 743.77 0/1 99 53 22 31 0.58 intronic rs2543519 TMPRSS6 AR NM_153609 exon9 c.18215-65A>G 0.247604 0.1677 0.3367 0.3045 0.55 T 0.0 P -1.011 T Uncertain 22_37480797_C->T 22 37480797 37480797 C T snp 299.77 0/1 99 27 16 11 0.41 exonic rs2111833 TMPRSS6 AR synonymous SNV NM_153609 exon9 c.G1083A p.S361S 0.312899 0.3046 0.348412 0.3827 0.4092 Uncertain 22_37481041_G->C 22 37481041 37481041 G C snp 2708.77 1/1 99 87 0 87 1.0 intronic rs2179229 TMPRSS6 AR NM_153609 exon10 c.18760+162G>C 0.584665 0.4772 Uncertain 22_37485595_T->C 22 37485595 37485595 T C snp 821.77 1/1 60 28 0 28 1.0 intronic rs2235326 TMPRSS6 AR NM_153609 exon12 c.23498-22T>C 0.664736 0.5744 0.5867 0.5689 Uncertain 22_37485724_T->C 22 37485724 37485724 T C snp 644.77 0/1 99 67 36 31 0.46 exonic rs2235324 TMPRSS6 AR nonsynonymous SNV NM_153609 exon7 c.A757G p.K253E 0.390375 0.4008 0.396170 0.3979 0.4124 0.69 T 0.0 P -1.026 T 0.001 T 0.001 T ID=CM114691;DIS=Iron-refractory iron deficiency anaemia (IRIDA);TAG=DM?;PUB=21643693 DM? Pathogenic 22_37491545_T->C 22 37491545 37491545 T C snp 951.77 0/1 99 99 49 50 0.51 intronic rs2743824 TMPRSS6 AR NM_153609 exon13 c.29471-45T>C 0.412939 0.3998 0.433031 0.4104 0.4043 Uncertain 22_37491822_G->A 22 37491822 37491822 G A snp 38.77 0/1 33 3 1 2 0.67 intronic rs2543510 TMPRSS6 AR NM_153609 exon14 c.29826-123G>A 0.403954 0.3998 Uncertain 22_37491839_A->G 22 37491839 37491839 A G snp 148.77 0/1 98 9 3 6 0.67 intronic rs2543509 TMPRSS6 AR NM_153609 exon14 c.29826-106A>G 0.411941 0.3998 Uncertain 22_37492201_T->G 22 37492201 37492201 T G snp 194.77 0/1 99 14 7 7 0.5 intronic rs2743825 TMPRSS6 AR NM_153609 exon14 c.30011+71T>G 0.414936 0.3978 Uncertain 22_37492585_C->T 22 37492585 37492585 C T snp 550.77 0/1 99 45 21 24 0.53 intronic rs5756512 TMPRSS6 AR NM_153609 exon15 c.30568-102C>T 0.329673 0.3333 Uncertain 22_37494318_T->C 22 37494318 37494318 T C snp 811.77 0/1 99 56 28 28 0.5 intronic rs732755 TMPRSS6 AR NM_153609 exon16 c.32336-137T>C 0.13758 0.1796 Uncertain 22_37494420_T->C 22 37494420 37494420 T C snp 2961.77 0/1 99 240 108 132 0.55 intronic rs732756 TMPRSS6 AR NM_153609 exon16 c.32336-35T>C 0.13758 0.1796 0.175688 0.1839 0.2051 Uncertain 22_37499386_C->T 22 37499386 37499386 C T snp 2625.77 0/1 99 209 100 109 0.52 exonic rs11704654 TMPRSS6 AR synonymous SNV NM_153609 exon2 c.G99A p.P33P 0.151558 0.131 0.178687 0.1639 0.1429 Uncertain 22_37499692_A->G 22 37499692 37499692 A G snp 1078.77 0/1 99 69 30 39 0.57 UTR5 rs5756515 TMPRSS6 AR 0.284744 0.3333 Uncertain 22_37499699_C->T 22 37499699 37499699 C T snp 976.77 0/1 99 62 26 36 0.58 upstream rs5756516 TMPRSS6 AR 0.317292 0.3313 Uncertain 22_37528362_T->G 22 37528362 37528362 T G snp 553.77 1/1 42 20 0 20 1.0 intronic rs2072861 IL2RB AU NM_000878 exon2 c.4288-61T>G 0.370607 0.5615 Uncertain 22_37528576_A->G 22 37528576 37528576 A G snp 1182.77 1/1 51 49 1 48 0.98 intronic rs3218318 IL2RB AU NM_000878 exon2 c.4373+68A>G 0.372604 0.5585 Uncertain 22_37528606_G->A 22 37528606 37528606 G A snp 1039.77 1/1 75 37 0 37 1.0 intronic rs2072862 IL2RB AU NM_000878 exon2 c.4373+98G>A 0.35623 0.5565 Uncertain 22_37531436_G->A 22 37531436 37531436 G A snp 5438.77 1/1 99 209 0 209 1.0 exonic rs228953 IL2RB AU synonymous SNV NM_000878 exon8 c.C750T p.G250G 0.411142 0.3929 0.423266 0.4202 0.4273 0.000 P -0.888 T Likely benign 22_37532172_A->G 22 37532172 37532172 A G snp 56.74 1/1 6 2 0 2 1.0 intronic rs2281089 IL2RB AU NM_000878 exon4 c.8132-95A>G 0.199281 0.1478 Uncertain 22_37532441_G->A 22 37532441 37532441 G A snp 1509.77 1/1 99 57 0 57 1.0 intronic rs3218297 IL2RB AU NM_000878 exon4 c.8298+8G>A 0.19369 0.1419 0.166385 0.2095 0.2113 Uncertain 22_37532514_C->T 22 37532514 37532514 C T snp 512.77 1/1 39 20 2 18 0.9 intronic rs3218296 IL2RB AU NM_000878 exon4 c.8298+81C>T 0.196486 0.1419 Uncertain 22_37533786_C->G 22 37533786 37533786 C G snp 3002.77 1/1 99 113 0 113 1.0 intronic rs228957 IL2RB AU NM_000878 exon5 c.9640+11C>G 0.492212 0.5655 0.469706 0.4552 0.6004 Uncertain 22_37533795_G->C 22 37533795 37533795 G C snp 2677.77 1/1 99 101 0 101 1.0 intronic rs228958 IL2RB AU NM_000878 exon5 c.9640+20G>C 0.480431 0.5655 0.458090 0.4491 0.5995 Uncertain 22_37538328_T->C 22 37538328 37538328 T C snp 134.03 1/1 12 4 0 4 1.0 intronic rs228968 IL2RB AU NM_000878 exon7 c.14338-145T>C 0.220847 0.2262 Uncertain 22_37539957_GTGC->- 22 37539957 37539960 GTGC - indel 214.8 1/1 18 6 0 6 1.0 intronic rs56786542 IL2RB AU NM_000878 exon9 c.15989-167_15989-164delGTGC Uncertain 22_37578214_T->C 22 37578214 37578214 T C snp 877.77 0/1 99 62 32 30 0.48 UTR3 rs916235 C1QTNF6 AU 0.278355 0.4673 0.220514 0.2331 0.4782 Uncertain 22_37578579_C->T 22 37578579 37578579 C T snp 3741.77 0/1 99 250 112 138 0.55 exonic rs229519 C1QTNF6 AU synonymous SNV NM_031910 exon3 c.G486A p.T162T 0.464657 0.495 0.368522 0.3593 0.5028 Uncertain 22_37578807_G->A 22 37578807 37578807 G A snp 1671.77 0/1 99 138 71 67 0.49 intronic rs229520 C1QTNF6 AU NM_182486 exon2 c.548+32G>A 0.341054 0.4643 0.244020 0.3612 0.5588 Uncertain 22_37578852_C->T 22 37578852 37578852 C T snp 1355.77 0/1 99 124 66 58 0.47 intronic rs229521 C1QTNF6 AU NM_182486 exon2 c.548+77C>T 0.466653 0.495 0.4736 0.5518 Uncertain 22_37578960_G->A 22 37578960 37578960 G A snp 294.77 0/1 99 38 25 13 0.34 intronic rs229522 C1QTNF6 AU NM_182486 exon2 c.548+185G>A 0.46845 0.495 Uncertain 22_37578995_C->T 22 37578995 37578995 C T snp 95.77 0/1 99 17 13 4 0.24 intronic rs4821596 C1QTNF6 AU NM_182486 exon2 c.548+220C>T 0.241014 0.4623 Uncertain 22_37580334_G->A 22 37580334 37580334 G A snp 3338.77 1/1 99 126 0 126 1.0 intronic rs229525 C1QTNF6 AU NM_182486 exon3 c.3030-923G>A 0.39397 0.5685 Uncertain 22_37581485_C->A 22 37581485 37581485 C A snp 2067.77 1/1 99 73 0 73 1.0 exonic rs229527 C1QTNF6 AU nonsynonymous SNV NM_031910 exon2 c.G62T p.G21V 0.45008 0.6548 0.396356 0.4395 0.6682 0.24 T 1.000 P -0.971 T 0.017 T 0.007 T Pathogenic 22_37584352_A->G 22 37584352 37584352 A G snp 172.9 1/1 15 6 0 6 1.0 upstream rs13057424 C1QTNF6 AU 0.311502 0.5903 Uncertain 22_37602583_-->C 22 37602583 37602583 - C indel 8304.73 1/1 99 214 0 214 1.0 UTR3 rs11406761 SSTR3 AU 1 1 0.9999 1 Uncertain 22_37603021_G->A 22 37603021 37603021 G A snp 6958.77 1/1 99 248 0 248 1.0 exonic rs2071710 SSTR3 AU synonymous SNV NM_001051 exon2 c.C822T p.Y274Y 0.3123 0.5863 0.196294 0.2577 0.6037 Uncertain 22_37603051_C->T 22 37603051 37603051 C T snp 6559.77 1/1 99 232 0 232 1.0 exonic rs229569 SSTR3 AU synonymous SNV NM_001051 exon2 c.G792A p.A264A 0.390775 0.5863 0.280563 0.2806 0.6033 Uncertain 22_37603390_C->T 22 37603390 37603390 C T snp 4131.77 1/1 99 164 1 163 0.99 exonic rs86582 SSTR3 AU synonymous SNV NM_001051 exon2 c.G453A p.S151S 0.390575 0.5863 0.284066 0.2871 0.6057 Uncertain 22_37603744_C->T 22 37603744 37603744 C T snp 6147.77 1/1 99 232 1 231 1.0 exonic rs86583 SSTR3 AU synonymous SNV NM_001051 exon2 c.G99A p.A33A 0.407947 0.5863 0.300907 0.2903 0.6041 Uncertain 22_37603950_G->A 22 37603950 37603950 G A snp 599.77 1/1 45 16 0 16 1.0 intronic rs69264 SSTR3 AU NM_001051 exon1 c.1293+72G>A 0.407947 0.5853 Uncertain 22_37622815_A->G 22 37622815 37622815 A G snp 5603.77 1/1 99 219 0 219 1.0 exonic rs1064498 RAC2 AU synonymous SNV NM_002872 exon6 c.T477C p.A159A 0.247404 0.3105 0.225315 0.1703 0.2979 CLINSIG=non-pathogenic;CLNDBN=not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000127683.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Uncertain 22_37622880_-->T 22 37622880 37622880 - T indel 5404.73 1/1 99 163 1 162 0.99 intronic rs147886654 RAC2 AU NM_002872 exon2 c.131+37insT 0.230431 0.3105 0.222711 0.0210 0 Uncertain 22_37622884_C->G 22 37622884 37622884 C G snp 3296.77 1/1 99 119 0 119 1.0 intronic rs116118746 RAC2 AU NM_002872 exon2 c.131+41C>G 0.247604 0.3105 0.0253 0 Uncertain 22_37622888_G->T 22 37622888 37622888 G T snp 3073.77 1/1 99 116 2 114 0.98 intronic rs114426762 RAC2 AU NM_002872 exon2 c.131+45G>T 0.151957 0.3046 1.135e-05 0 Uncertain 22_37622890_G->C 22 37622890 37622890 G C snp 3233.06 1/1 99 116 1 115 0.99 intronic rs115077809 RAC2 AU NM_002872 exon2 c.131+47G>C 0.207867 0.3046 0.0150 0 Uncertain 22_37627234_T->C 22 37627234 37627234 T C snp 364.77 1/1 30 12 0 12 1.0 intronic rs9610682 RAC2 AU NM_002872 exon3 c.4558-36T>C 0.389577 0.3185 0.425419 0.3662 0.3357 Uncertain 22_37627246_G->C 22 37627246 37627246 G C snp 470.77 1/1 36 16 0 16 1.0 intronic rs9610683 RAC2 AU NM_002872 exon3 c.4558-24G>C 0.383387 0.3185 0.418499 0.3649 0.3356 Uncertain 22_37627845_G->A 22 37627845 37627845 G A snp 712.77 1/1 54 20 0 20 1.0 intronic rs8135343 RAC2 AU NM_002872 exon4 c.5259-126G>A 0.364816 0.3155 Uncertain 22_37628053_-->G 22 37628053 37628053 - G indel 5289.73 1/1 99 134 0 134 1.0 intronic rs11374583 RAC2 AU NM_002872 exon4 c.5322+19insG 0.424321 0.3403 0.443925 0.3995 0.3258 Uncertain 22_37628145_A->G 22 37628145 37628145 A G snp 1472.77 1/1 99 42 0 42 1.0 intronic rs2285110 RAC2 AU NM_002872 exon4 c.5322+111A>G 0.350439 0.2718 Uncertain 22_37628993_T->G 22 37628993 37628993 T G snp 3201.82 1/1 99 114 0 114 1.0 intronic rs9610684 RAC2 AU NM_002872 exon5 c.6246+35T>G 0.174521 0.2718 0.136399 0.1352 0.2656 Uncertain 22_37636949_G->C 22 37636949 37636949 G C snp 883.77 1/1 66 27 0 27 1.0 intronic rs9607434 RAC2 AU NM_002872 exon6 c.14914-677G>C 0.175919 0.2867 Uncertain 22_37637653_G->C 22 37637653 37637653 G C snp 3531.77 1/1 99 129 0 129 1.0 exonic rs2239774 RAC2 AU synonymous SNV NM_002872 exon2 c.C81G p.A27A 0.189696 0.2788 0.156389 0.1547 0.2641 CLINSIG=non-pathogenic;CLNDBN=not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000127684.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Uncertain 22_37678551_A->G 22 37678551 37678551 A G snp 845.77 0/1 99 68 28 40 0.59 UTR5 rs3213556 CYTH4 AU 0.691893 0.506 0.791283 0.6962 0.5141 Uncertain 22_37691907_A->G 22 37691907 37691907 A G snp 683.77 1/1 51 18 0 18 1.0 intronic rs2269590 CYTH4 AU NM_013385 exon4 c.13429-132A>G 0.559704 0.6935 Uncertain 22_37695256_T->C 22 37695256 37695256 T C snp 2126.77 1/1 99 77 0 77 1.0 intronic rs2301435 CYTH4 AU NM_013385 exon6 c.16656-10T>C 0.679313 0.7044 0.570429 0.6174 0.6838 Uncertain 22_37699197_-->G 22 37699197 37699197 - G indel 486.73 1/1 42 14 0 14 1.0 intronic rs35187313 CYTH4 AU NM_013385 exon8 c.20684-97insG 0.707468 0.7321 Uncertain 22_37699377_T->C 22 37699377 37699377 T C snp 7675.77 1/1 99 249 0 249 1.0 exonic rs2239822 CYTH4 AU synonymous SNV NM_013385 exon8 c.T630C p.F210F 0.750399 0.7183 0.676149 0.6787 0.7015 Uncertain 22_37700177_T->C 22 37700177 37700177 T C snp 1039.77 1/1 75 37 0 37 1.0 intronic rs2284050 CYTH4 AU NM_013385 exon8 c.20833+734T>C 0.751597 0.7183 0.7273 0.6827 Uncertain 22_37707962_C->T 22 37707962 37707962 C T snp 61.77 0/1 90 11 8 3 0.27 intronic rs2269591 CYTH4 AU NM_013385 exon12 c.29450-98C>T 0.437101 0.5546 Uncertain 22_37708004_T->C 22 37708004 37708004 T C snp 254.77 0/1 99 27 16 11 0.41 intronic rs2269593 CYTH4 AU NM_013385 exon12 c.29450-56T>C 0.461861 0.5952 Uncertain 22_37768972_G->A 22 37768972 37768972 G A snp 79.77 0/1 69 6 2 4 0.67 UTR3 ELFN2 AU Uncertain 22_37770066_G->T 22 37770066 37770066 G T snp 3245.77 0/1 99 250 122 128 0.51 exonic rs8142615 ELFN2 AU synonymous SNV NM_052906 exon3 c.C1509A p.I503I 0.398962 0.3502 0.416103 0.3915 0.3448 Uncertain 22_37770357_A->G 22 37770357 37770357 A G snp 3151.77 0/1 99 244 122 122 0.5 exonic rs7292751 ELFN2 AU synonymous SNV NM_052906 exon3 c.T1218C p.F406F 0.446086 0.3492 0.460249 0.4221 0.3490 Uncertain 22_37771158_G->A 22 37771158 37771158 G A snp 2205.77 0/1 99 188 96 92 0.49 exonic rs2071857 ELFN2 AU synonymous SNV NM_052906 exon3 c.C417T p.I139I 0.417732 0.3522 0.446409 0.4424 0.3525 Uncertain 22_37881842_G->A 22 37881842 37881842 G A snp 32.77 0/1 61 5 3 2 0.4 intronic rs2071840 MFNG AU NM_001166343 exon7 c.15953-111G>A 0.122804 0.2639 Uncertain 22_37887510_G->C 22 37887510 37887510 G C snp 193.77 0/1 99 19 9 10 0.53 intronic rs9622628 CARD10 AU NM_014550 exon1 c.235+79G>C 0.123602 0.2669 Uncertain 22_37887614_-->AA 22 37887614 37887614 - AA indel 222 0/1 12 6 1 5 0.83 intronic rs369282606 CARD10 AU NM_014550 exon2 c.565-147insAA Uncertain 22_37887629_GAGG->- 22 37887629 37887632 GAGG - indel 524.73 1/1 38 13 0 13 1.0 intronic CARD10 AU NM_014550 exon2 c.565-132_565-129delGAGG Uncertain 22_37887644_G->A 22 37887644 37887644 G A snp 516.77 1/1 42 16 1 15 0.94 intronic rs113602635 CARD10 AU NM_014550 exon2 c.565-117G>A Uncertain 22_37888868_G->C 22 37888868 37888868 G C snp 1589.77 1/1 99 51 1 50 0.98 intronic rs5756696 CARD10 AU NM_014550 exon4 c.1613+59G>C 1 1 Uncertain 22_37888994_T->C 22 37888994 37888994 T C snp 40.77 0/1 31 3 1 2 0.67 intronic rs5756697 CARD10 AU NM_014550 exon4 c.1613+185T>C 0.145567 0.2688 Uncertain 22_37891710_C->A 22 37891710 37891710 C A snp 1275.77 0/1 99 93 47 46 0.49 intronic rs2295155 CARD10 AU NM_014550 exon7 c.4570-56C>A 0.130391 0.2649 Uncertain 22_37892090_A->T 22 37892090 37892090 A T snp 249.77 0/1 99 20 12 8 0.4 intronic rs5750442 CARD10 AU NM_014550 exon7 c.4814+80A>T 0.201478 0.2649 Uncertain 22_37892370_A->G 22 37892370 37892370 A G snp 829.77 0/1 99 57 24 33 0.58 intronic rs5756701 CARD10 AU NM_014550 exon8 c.5259-85A>G 0.178115 0.2669 Uncertain 22_37892956_A->- 22 37892956 37892956 A - indel 378.73 0/1 99 24 12 12 0.5 intronic rs55977141 CARD10 AU NM_014550 exon9 c.5829-69delA 0.201478 0.2649 Uncertain 22_37898896_A->G 22 37898896 37898896 A G snp 44.77 0/1 33 3 1 2 0.67 intronic rs2235333 CARD10 AU NM_014550 exon10 c.11536+164A>G 0.350839 0.4286 Uncertain 22_37899101_A->G 22 37899101 37899101 A G snp 2057.77 0/1 99 168 81 87 0.52 intronic rs5756705 CARD10 AU NM_014550 exon11 c.11995-90A>G 0.338658 0.4286 Uncertain 22_37899925_T->C 22 37899925 37899925 T C snp 246.77 0/1 99 24 15 9 0.38 intronic rs3817799 CARD10 AU NM_014550 exon12 c.12996-267T>C 0.13119 0.2708 Uncertain 22_37899996_G->A 22 37899996 37899996 G A snp 1291.77 0/1 99 118 64 54 0.46 intronic rs3817800 CARD10 AU NM_014550 exon12 c.12996-196G>A 0.13119 0.2708 0.1292 0.2961 Uncertain 22_37900006_T->C 22 37900006 37900006 T C snp 1415.77 0/1 99 148 90 58 0.39 intronic rs3817801 CARD10 AU NM_014550 exon12 c.12996-186T>C 0.13119 0.2708 0.1300 0.2977 Uncertain 22_37900276_A->G 22 37900276 37900276 A G snp 704.77 0/1 99 55 27 28 0.51 exonic rs3817803 CARD10 AU synonymous SNV NM_014550 exon9 c.T1551C p.N517N 0.130791 0.2688 0.073459 0.1869 0.3700 Uncertain 22_37900607_G->A 22 37900607 37900607 G A snp 2775.77 0/1 99 250 127 123 0.49 intronic rs3817804 CARD10 AU NM_014550 exon13 c.13445-34G>A 0.130591 0.2679 0.077426 0.1208 0.2767 Uncertain 22_37900762_G->A 22 37900762 37900762 G A snp 1724.77 0/1 99 146 76 70 0.48 exonic rs3817805 CARD10 AU synonymous SNV NM_014550 exon8 c.C1398T p.S466S 0.13119 0.2708 0.077041 0.1301 0.2848 Uncertain 22_37902177_T->C 22 37902177 37902177 T C snp 343.77 0/1 99 17 6 11 0.65 intronic rs738304 CARD10 AU NM_014550 exon14 c.15002-21T>C 0.289736 0.1458 0.296839 0.2608 0.1456 Uncertain 22_37904957_C->G 22 37904957 37904957 C G snp 1136.77 0/1 99 119 67 52 0.44 intronic rs932326 CARD10 AU NM_014550 exon16 c.17493+268C>G 0.599241 0.499 Uncertain 22_37962756_G->A 22 37962756 37962756 G A snp 1925.77 0/1 99 174 84 90 0.52 exonic rs138108680 CDC42EP1 AU nonsynonymous SNV NM_152243 exon2 c.G400A p.V134M 0.00139776 0.000923 0.0012 0.0023 0.23 T 0.990 N -1.046 T 0.987 D 0.576 D Pathogenic 22_38005366_A->T 22 38005366 38005366 A T snp 610.77 0/1 99 53 27 26 0.49 splicing rs186284993 GGA1 AU NM_013365 exon1 c.43+456A>T 0.00319489 0.0139 Pathogenic 22_38010035_A->C 22 38010035 38010035 A C snp 50.74 1/1 6 2 0 2 1.0 intronic rs2294972 GGA1 AU NM_013365 exon2 c.5329-161A>C 0.633187 0.4742 Uncertain 22_38010291_C->T 22 38010291 38010291 C T snp 2932.77 0/1 99 250 126 124 0.5 intronic rs144274992 GGA1 AU NM_013365 exon2 c.5414+10C>T 0.00319489 0.0139 0.0015 0.0186 Uncertain 22_38010363_G->A 22 38010363 38010363 G A snp 2142.77 0/1 99 186 89 97 0.52 intronic rs73420392 GGA1 AU NM_013365 exon2 c.5414+82G>A 0.0203674 0.0129 Uncertain 22_38012856_G->A 22 38012856 38012856 G A snp 118.77 0/1 99 10 5 5 0.5 intronic rs56765269 GGA1 AU NM_013365 exon3 c.8061-72G>A 0.00299521 0.0129 Uncertain 22_38014729_C->T 22 38014729 38014729 C T snp 163.77 0/1 99 17 10 7 0.41 intronic rs73420400 GGA1 AU NM_001172688 exon5 c.84+176C>T 0.0435304 0.0109 Uncertain 22_38015671_T->C 22 38015671 38015671 T C snp 2310.77 1/1 99 78 0 78 1.0 intronic rs8138728 GGA1 AU NM_001172688 exon6 c.1775-573T>C 0.632388 0.4732 Uncertain 22_38015853_G->A 22 38015853 38015853 G A snp 1782.77 0/1 99 165 89 76 0.46 intronic rs8138231 GGA1 AU NM_001172688 exon6 c.1775-391G>A 0.0199681 0.0109 0.016568 0.0063 0.0180 Uncertain 22_38025375_T->C 22 38025375 38025375 T C snp 648.77 1/1 48 19 0 19 1.0 intronic rs2071766 GGA1 AU NM_001172688 exon13 c.10999-93T>C 0.632788 0.4742 Uncertain 22_38025556_T->C 22 38025556 38025556 T C snp 1398.77 0/1 99 115 54 61 0.53 intronic rs16985609 GGA1 AU NM_001172688 exon13 c.11064+23T>C 0.04373 0.0109 0.042602 0.0130 0.0172 Uncertain 22_38025598_T->C 22 38025598 38025598 T C snp 1159.77 0/1 99 94 46 48 0.51 intronic rs16985612 GGA1 AU NM_001172688 exon13 c.11064+65T>C 0.0435304 0.0109 0.035261 Uncertain 22_38035777_C->T 22 38035777 38035777 C T snp 677.77 0/1 99 54 23 31 0.57 UTR5 rs191872973 SH3BP1 AU 0.00419329 0.0129 0.0041 0.0473 Uncertain 22_38035851_A->G 22 38035851 38035851 A G snp 1216.77 0/1 99 104 48 56 0.54 exonic rs13055139 SH3BP1 AU synonymous SNV NM_018957 exon1 c.A57G p.G19G 0.21845 0.2252 0.125478 0.1914 0.3018 Uncertain 22_38037105_-->C 22 38037105 38037105 - C indel 68.73 0/1 99 33 16 17 0.52 intronic rs398037090 SH3BP1 AU NM_018957 exon2 c.1338-27insC Uncertain 22_38037240_G->A 22 38037240 38037240 G A snp 1850.77 0/1 99 145 62 83 0.57 intronic rs76166598 SH3BP1 AU NM_018957 exon2 c.1381+65G>A 0.0970447 0.0139 0.099737 Uncertain 22_38037401_G->A 22 38037401 38037401 G A snp 1668.77 0/1 99 140 71 69 0.49 exonic rs74643192 SH3BP1 AU synonymous SNV NM_018957 exon3 c.G123A p.P41P 0.00319489 0.0129 0.0013 0.0225 Uncertain 22_38039128_A->G 22 38039128 38039128 A G snp 1559.77 0/1 99 142 80 62 0.44 exonic rs74516928 SH3BP1 AU synonymous SNV NM_018957 exon6 c.A420G p.K140K 0.0944489 0.0139 0.102477 0.0903 0.0234 Uncertain 22_38039433_G->A 22 38039433 38039433 G A snp 43.77 0/1 70 4 2 2 0.5 ncRNA_intronic rs1894527 LOC101927051 AU 0.0998403 0.0139 Uncertain 22_38039708_T->C 22 38039708 38039708 T C snp 1876.77 0/1 99 180 100 80 0.44 exonic rs1894529 SH3BP1 AU synonymous SNV NM_018957 exon7 c.T531C p.G177G 0.0944489 0.0139 0.103798 0.0787 0.0189 Uncertain 22_38040842_C->T 22 38040842 38040842 C T snp 1205.77 0/1 99 110 61 49 0.45 ncRNA_intronic rs713977 LOC101927051 AU 0.0926518 0.0139 0.101261 0.0780 0.0190 Uncertain 22_38043444_C->A 22 38043444 38043444 C A snp 1787.77 0/1 99 157 76 81 0.52 splicing rs3213528 SH3BP1 AU NM_018957 exon13 c.7653-3C>A 0.355631 0.2599 0.383823 0.4346 0.2540 Pathogenic 22_38043568_G->C 22 38043568 38043568 G C snp 383.77 0/1 99 16 5 11 0.69 ncRNA_intronic rs201166584 LOC101927051 AU 0.00299521 0.0129 0.0020 0.0233 Uncertain 22_38044497_C->T 22 38044497 38044497 C T snp 553.77 0/1 99 37 16 21 0.57 ncRNA_intronic rs62235997 LOC101927051 AU 0.190096 0.1776 Uncertain 22_38046262_G->A 22 38046262 38046262 G A snp 628.77 0/1 99 39 19 20 0.51 splicing rs7291860 SH3BP1 AU NM_018957 exon15 c.10462+6G>A 0.0241613 0.0129 0.021913 0.0104 0.0263 Pathogenic 22_38046384_C->T 22 38046384 38046384 C T snp 261.77 0/1 91 12 4 8 0.67 ncRNA_exonic rs7291774 LOC101927051 AU 0.0241613 0.0129 Uncertain 22_38046718_A->G 22 38046718 38046718 A G snp 829.77 0/1 99 72 40 32 0.44 exonic rs762987 SH3BP1 AU synonymous SNV NM_018957 exon16 c.A1584G p.A528A 0.155351 0.0149 0.167000 0.0995 0.0190 Uncertain 22_38051460_C->T 22 38051460 38051460 C T snp 166.77 0/1 99 18 7 11 0.61 exonic rs116216235 SH3BP1 AU synonymous SNV NM_018957 exon18 c.C1875T p.P625P 0.0638978 0.0129 0.045154 0.0253 0.0432 Uncertain 22_38051999_C->T 22 38051999 38051999 C T snp 485.77 1/1 36 21 0 21 1.0 ncRNA_intronic rs12483880 LOC101927051 AU 0.443091 0.4802 0.441053 0.4398 0.5109 0.11 T 1.000 P -0.910 T 0.816 T 0.132 P Uncertain 22_38052054_G->C 22 38052054 38052054 G C snp 70.77 0/1 99 18 12 6 0.33 ncRNA_intronic rs150335600 LOC101927051 AU 0.00299521 0.0129 0.0020 0.0247 Uncertain 22_38061450_C->G 22 38061450 38061450 C G snp 83.77 1/1 6 3 0 3 1.0 intronic rs6000855 PDXP AU NM_020315 exon2 c.6772-111C>G 0.736022 0.6538 Uncertain 22_38061520_C->G 22 38061520 38061520 C G snp 789.77 0/1 99 61 33 28 0.46 intronic rs62236667 PDXP AU NM_020315 exon2 c.6772-41C>G 0.267173 0.2649 0.292277 0.3543 0.3099 Uncertain 22_38074343_C->T 22 38074343 38074343 C T snp 815.77 0/1 99 74 41 33 0.45 intronic rs62236672 LGALS1 AU NM_002305 exon3 c.2780-146C>T 0.266174 0.2649 0.3271 0.2757 Uncertain 22_38074434_G->A 22 38074434 38074434 G A snp 5456.77 1/1 99 200 0 200 1.0 intronic rs9622682 LGALS1 AU NM_002305 exon3 c.2780-55G>A 0.488219 0.4762 0.5108 0.5811 Uncertain 22_38086574_C->T 22 38086574 38086574 C T snp 324.77 0/1 99 25 13 12 0.48 intronic rs9610834 NOL12 AU NM_024313 exon5 c.4304-129C>T 0.338259 0.5893 Uncertain 22_38097359_C->G 22 38097359 38097359 C G snp 2245.77 0/1 99 173 81 92 0.53 UTR5 rs12484441 TRIOBP AR 0.172524 0.1567 0.177252 0.2653 0.1967 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000036815.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 22_38109115_G->T 22 38109115 38109115 G T snp 138.77 0/1 99 14 9 5 0.36 intronic rs13055217 TRIOBP AR NM_001039141 exon5 c.11844-101G>T 0.272764 0.2917 Uncertain 22_38119213_G->A 22 38119213 38119213 G A snp 1286.77 0/1 99 113 56 57 0.5 exonic rs12628603 TRIOBP AR nonsynonymous SNV NM_001039141 exon7 c.G650A p.S217N 0.526558 0.7073 0.543731 0.5697 0.6977 0.02 T 1.000 P -0.982 T 0.384 T 0.111 T Pathogenic 22_38119755_CAA->- 22 38119755 38119757 CAA - indel 6558.73 0/1 99 245 123 122 0.5 exonic rs55745992 TRIOBP AR nonframeshift deletion NM_001039141 exon7 c.1192_1194del p.398_398del 0.336262 0.5863 0.353474 0.3917 0.5987 Uncertain 22_38121152_C->A 22 38121152 38121152 C A snp 3008.77 0/1 99 250 125 125 0.5 exonic rs9610841 TRIOBP AR nonsynonymous SNV NM_001039141 exon7 c.C2589A p.N863K 0.336262 0.5863 0.346408 0.3925 0.6011 0.04 T 0.000 P -0.951 T 0.421 T 0.058 T Pathogenic 22_38122122_T->C 22 38122122 38122122 T C snp 2090.77 0/1 99 212 117 95 0.45 exonic rs5756795 TRIOBP AR nonsynonymous SNV NM_001039141 exon7 c.T3559C p.F1187L 0.336661 0.5863 0.350098 0.3934 0.6032 0.11 T 1.000 P -0.970 T 0.006 T 0.006 T Pathogenic 22_38122448_C->T 22 38122448 38122448 C T snp 514.77 0/1 99 39 18 21 0.54 exonic rs739137 TRIOBP AR synonymous SNV NM_001039141 exon7 c.C3885T p.S1295S 0.336661 0.5863 0.341939 0.4421 0.6229 Uncertain 22_38122462_A->G 22 38122462 38122462 A G snp 1075.77 1/1 78 36 0 36 1.0 exonic rs739138 TRIOBP AR nonsynonymous SNV NM_001039141 exon7 c.A3899G p.H1300R 0.601038 0.8859 0.631046 0.7412 0.9232 1 T 1.000 P -1.000 T 0.0 T 0.0 T Pathogenic 22_38129086_G->A 22 38129086 38129086 G A snp 86.28 1/1 9 3 0 3 1.0 intronic rs4820302 TRIOBP AR NM_001039141 exon8 c.31932-218G>A 0.982827 1 Uncertain 22_38129332_G->A 22 38129332 38129332 G A snp 968.77 0/1 99 104 65 39 0.38 exonic rs7284476 TRIOBP AR synonymous SNV NM_001039141 exon8 c.G3975A p.Q1325Q 0.33726 0.5843 0.350263 0.3898 0.5869 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000036818.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 22_38130385_A->C 22 38130385 38130385 A C snp 2169.77 0/1 99 188 94 94 0.5 intronic rs13054052 TRIOBP AR NM_001039141 exon9 c.33033-20A>C 0.526757 0.6974 0.542622 0.5834 0.6943 Uncertain 22_38130459_G->T 22 38130459 38130459 G T snp 2771.77 0/1 99 220 105 115 0.52 exonic rs8140207 TRIOBP AR nonsynonymous SNV NM_001039141 exon9 c.G4116T p.E1372D 0.263978 0.3016 0.225230 0.3080 0.3117 0.4 T 0.000 P -0.917 T 0.051 T 0.02 T CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000036821.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 22_38130472_T->C 22 38130472 38130472 T C snp 5920.77 1/1 99 201 0 201 1.0 exonic rs8140958 TRIOBP AR nonsynonymous SNV NM_001039141 exon9 c.T4129C p.W1377R 0.982628 1 0.964740 0.9653 1 0.89 T 0.0 P -1.005 T 0.0 T 0.0 T CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000036822.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic 22_38142468_A->G 22 38142468 38142468 A G snp 226.84 1/1 18 10 0 10 1.0 intronic rs5756803 TRIOBP AR NM_138632 exon1 c.183+41A>G 0.820088 0.999 0.9062 1 Uncertain 22_38146433_T->C 22 38146433 38146433 T C snp 264.77 0/1 99 15 7 8 0.53 intronic rs3788528 TRIOBP AR NM_138632 exon2 c.5534-1345T>C 0.345847 0.5923 Uncertain 22_38146585_C->T 22 38146585 38146585 C T snp 1339.77 0/1 99 127 74 53 0.42 intronic rs4821704 TRIOBP AR NM_138632 exon2 c.5534-1193C>T 0.345847 0.5923 Uncertain 22_38146847_T->C 22 38146847 38146847 T C snp 429.77 1/1 33 12 0 12 1.0 intronic rs6519081 TRIOBP AR NM_138632 exon2 c.5534-931T>C 0.982827 1 Uncertain 22_38155317_C->G 22 38155317 38155317 C G snp 4269.77 1/1 99 157 0 157 1.0 intronic rs5756810 TRIOBP AR NM_138632 exon7 c.13027+46C>G 0.982827 1 0.964549 0.9656 1 Uncertain 22_38161835_-->G 22 38161835 38161835 - G indel 387.73 0/1 99 39 16 23 0.59 intronic rs3833924 TRIOBP AR NM_001039141 exon18 c.64452+11insG 0.570887 0.6052 0.634402 0.6243 0.6703 Uncertain 22_38164106_C->T 22 38164106 38164106 C T snp 2174.77 0/1 99 198 99 99 0.5 exonic rs4821708 TRIOBP AR synonymous SNV NM_001039141 exon19 c.C6498T p.Y2166Y 0.264776 0.2927 0.231416 0.3279 0.3046 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000036833.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 22_38165224_G->- 22 38165224 38165224 G - indel 1304.73 0/1 99 69 28 41 0.59 intronic rs34979986 TRIOBP AR NM_001039141 exon20 c.67822+30delG 0.265375 0.2927 0.236234 0.3335 0.3184 Uncertain 22_38168508_T->C 22 38168508 38168508 T C snp 1009.77 1/1 75 30 0 30 1.0 intronic rs762984 TRIOBP AR NM_001039141 exon23 c.71235-99T>C 0.982827 1 Uncertain 22_38204089_C->T 22 38204089 38204089 C T snp 1286.77 0/1 99 132 72 60 0.45 exonic rs710187 GCAT AU nonsynonymous SNV NM_001171690 exon1 c.C115T p.R39C 0.597045 0.6815 0.568817 0.6307 0.7298 0 D 1.000 P -0.921 T 0.096 T 0.006 T Pathogenic 22_38204259_C->T 22 38204259 38204259 C T snp 99.77 0/1 99 11 7 4 0.36 intronic rs2071910 GCAT AU NM_001171690 exon1 c.196+89C>T 0.259385 0.3135 Uncertain 22_38205894_T->C 22 38205894 38205894 T C snp 1055.77 0/1 99 79 42 37 0.47 intronic rs2285177 GCAT AU NM_001171690 exon2 c.1981-61T>C 0.275559 0.3135 Uncertain 22_38205989_T->C 22 38205989 38205989 T C snp 2333.77 0/1 99 194 92 102 0.53 exonic rs2285178 GCAT AU nonsynonymous SNV NM_001171690 exon2 c.T230C p.L77S 0.275559 0.3135 0.252999 0.3866 0.4100 0 D 0.000 P -1.068 T 0.037 T 0.009 T Pathogenic 22_38211954_G->A 22 38211954 38211954 G A snp 768.77 1/1 60 25 0 25 1.0 intronic rs2285179 GCAT AU NM_001171690 exon7 c.7867+113G>A 0.612819 0.8433 Uncertain 22_38212068_C->T 22 38212068 38212068 C T snp 301.78 1/1 24 9 0 9 1.0 intronic rs739269 GCAT AU NM_001171690 exon8 c.8232-138C>T 0.782947 0.8472 Uncertain 22_38212762_A->G 22 38212762 38212762 A G snp 1488.77 1/1 99 46 0 46 1.0 UTR3 rs13911 GCAT AU 0.753794 0.8472 0.704217 0.6849 0.8778 Uncertain 22_38220964_T->C 22 38220964 38220964 T C snp 1219.77 1/1 87 49 0 49 1.0 exonic rs8138029 GALR3 AU synonymous SNV NM_003614 exon2 c.T594C p.A198A 0.783746 0.8591 0.771570 0.7250 0.8927 Uncertain 22_38221658_A->G 22 38221658 38221658 A G snp 136.03 1/1 12 4 0 4 1.0 downstream rs2284058 GALR3 AU 0.784744 0.8591 Uncertain 22_38243675_A->T 22 38243675 38243675 A T snp 1681.77 1/1 99 59 0 59 1.0 downstream rs5750504 MIR659 AU 0.638578 0.8433 0.572718 0.6124 0.8729 Uncertain 22_38251686_T->C 22 38251686 38251686 T C snp 1961.77 1/1 99 65 0 65 1.0 intronic rs2157472 EIF3L AU NM_016091 exon4 c.6195+35T>C 0.791134 0.879 0.739197 0.6989 0.8971 Uncertain 22_38258872_G->A 22 38258872 38258872 G A snp 227.77 0/1 99 11 4 7 0.64 intronic rs186867355 EIF3L AU NM_016091 exon6 c.13519-103G>A 0.00119808 0.005 Uncertain 22_38307909_T->C 22 38307909 38307909 T C snp 1624.77 0/1 99 185 107 78 0.42 intronic rs6519091 MICALL1 AU NM_033386 exon2 c.5529-49T>C 0.362819 0.1766 0.409657 0.3881 0.1543 Uncertain 22_38308049_TGTG->- 22 38308049 38308052 TGTG - indel 1829.73 0/1 99 93 29 64 0.69 intronic rs3041723 MICALL1 AU NM_033386 exon2 c.5578+42_5578+45delTGTG 0.3536 0.1645 Uncertain 22_38308291_C->T 22 38308291 38308291 C T snp 365.77 0/1 99 29 17 12 0.41 intronic rs1003689 MICALL1 AU NM_033386 exon3 c.5928-66C>T 0.357628 0.1766 Uncertain 22_38341134_T->C 22 38341134 38341134 T C snp 1155.77 0/1 99 116 65 51 0.44 exonic rs139859 C22orf23 AU synonymous SNV NM_001207062 exon4 c.A333G p.T111T 0.78135 0.8353 0.747424 0.6933 0.8550 Uncertain 22_38369976_A->G 22 38369976 38369976 A G snp 2187.77 0/1 99 146 57 89 0.61 exonic rs139884 SOX10 AD synonymous SNV NM_006941 exon4 c.T927C p.H309H 0.713259 0.748 0.695833 0.6537 0.7598 Uncertain 22_38382304_G->A 22 38382304 38382304 G A snp 253.77 0/1 99 37 23 14 0.38 exonic rs12170378 POLR2F AU nonsynonymous SNV NM_001301130 exon5 c.G437A p.G146D 0.0549121 0.1726 0.013878 0.0600 0.1891 0 D 1.000 P -1.074 T Pathogenic 22_38382691_G->A 22 38382691 38382691 G A snp 1213.77 0/1 99 147 88 59 0.4 intronic rs12628846 POLR2F AU NM_001301130 exon5 c.32525+372G>A 0.00379393 0.0159 0.0014 0.0196 Uncertain 22_38453648_-->G 22 38453648 38453648 - G indel 554.73 1/1 45 15 0 15 1.0 intronic rs397771044 PICK1 AU 1 1 Uncertain 22_38453679_-->G 22 38453679 38453679 - G indel 1142.73 1/1 87 29 0 29 1.0 intronic rs397705190 PICK1 AU 0.983027 0.9891 Uncertain 22_38467784_G->C 22 38467784 38467784 G C snp 2045.77 0/1 99 183 92 91 0.5 intronic rs760975 PICK1 AU NM_012407 exon8 c.13935+33G>C 0.722045 0.8085 0.688375 0.6602 0.7906 Uncertain 22_38474696_A->G 22 38474696 38474696 A G snp 1548.77 0/1 99 148 82 66 0.45 exonic rs2076371 SLC16A8 AU nonsynonymous SNV NM_013356 exon5 c.T1214C p.V405A 0.810703 0.9058 0.795325 0.7554 0.9213 1 T 0.0 P -0.947 T 0.0 T 0.001 T Pathogenic 22_38474852_G->A 22 38474852 38474852 G A snp 132.77 0/1 99 13 8 5 0.38 intronic rs1004764 SLC16A8 AU NM_013356 exon1 c.317+141G>A 0.764177 0.8998 Uncertain 22_38481516_G->A 22 38481516 38481516 G A snp 108.77 0/1 99 10 6 4 0.4 intronic rs9610902 BAIAP2L2 AU NM_025045 exon1 c.76+134G>A 0.364018 0.4256 Uncertain 22_38481887_G->A 22 38481887 38481887 G A snp 77.77 0/1 63 5 2 3 0.6 intronic rs202165386 BAIAP2L2 AU NM_025045 exon2 c.433+148G>A 0.00239617 0.0109 Uncertain 22_38485064_C->G 22 38485064 38485064 C G snp 438.77 0/1 99 42 23 19 0.45 intronic rs62235125 BAIAP2L2 AU NM_025045 exon6 c.3796-38C>G 0.359026 0.3948 0.4562 0.375 Uncertain 22_38485540_A->G 22 38485540 38485540 A G snp 82.77 0/1 99 12 7 5 0.42 exonic rs17856487 BAIAP2L2 AU nonsynonymous SNV NM_025045 exon8 c.T754C p.C252R 0.390775 0.4058 1 . 0.48 T 1.000 P -0.896 T 0.0 T 0.0 T Pathogenic 22_38490056_C->T 22 38490056 38490056 C T snp 321.77 0/1 99 28 16 12 0.43 intronic rs4373009 BAIAP2L2 AU NM_025045 exon8 c.11732-2982C>T 0.403754 0.4058 Uncertain 22_38494006_GGTCTCGCCCCGA->- 22 38494006 38494018 GGTCTCGCCCCGA - indel 4063.73 0/1 99 36 7 29 0.81 intronic rs147676763 BAIAP2L2 AU NM_025045 exon9 c.12763-63_12763-51delGGTCTCGCCCCGA 0.396366 0.4067 Uncertain 22_38503847_C->T 22 38503847 38503847 C T snp 5608.77 1/1 99 216 3 213 0.99 intronic rs6001006 BAIAP2L2 AU NM_025045 exon11 c.22552-11C>T 0.822284 0.6974 0.794641 0.7804 0.6722 Uncertain 22_38503968_C->T 22 38503968 38503968 C T snp 751.77 0/1 99 61 29 32 0.52 intronic rs13054158 BAIAP2L2 AU NM_025045 exon11 c.22614+48C>T 0.25619 0.2381 0.267177 0.2381 0.2386 Uncertain 22_38504372_T->C 22 38504372 38504372 T C snp 1869.77 1/1 99 72 0 72 1.0 intronic rs5750540 BAIAP2L2 AU NM_025045 exon12 c.23042+24T>C 0.845248 0.8254 0.797757 0.7834 0.7833 Uncertain 22_38505266_A->G 22 38505266 38505266 A G snp 1043.77 0/1 99 94 41 53 0.56 intronic rs60600671 BAIAP2L2 AU NM_025045 exon13 c.23909+51A>G 0.345847 0.3562 0.275881 0.2100 0.3489 Uncertain 22_38505347_G->A 22 38505347 38505347 G A snp 469.77 0/1 99 34 17 17 0.5 intronic rs6001008 BAIAP2L2 AU NM_025045 exon13 c.23909+132G>A 0.533746 0.369 Uncertain 22_38505356_A->G 22 38505356 38505356 A G snp 435.77 0/1 99 28 13 15 0.54 intronic rs6001009 BAIAP2L2 AU NM_025045 exon13 c.23909+141A>G 0.53734 0.372 Uncertain 22_38506509_A->G 22 38506509 38506509 A G snp 2504.77 1/1 99 97 0 97 1.0 exonic rs4820313 BAIAP2L2 AU synonymous SNV NM_025045 exon1 c.T24C p.F8F 1 1 1 1 Uncertain 22_38519335_A->G 22 38519335 38519335 A G snp 452.77 0/1 99 32 14 18 0.56 intronic rs2072867 PLA2G6 AR NM_003560 exon7 c.11098+70A>G 0.0926518 0.2272 Uncertain 22_38609950_G->A 22 38609950 38609950 G A snp 527.77 0/1 99 47 27 20 0.43 intronic rs2235264 MAFF AU NM_001161573 exon2 c.36+54G>A 0.363019 0.5179 0.422251 Uncertain 22_38611080_C->G 22 38611080 38611080 C G snp 983.77 0/1 99 82 39 43 0.52 UTR3 rs9610915 MAFF AU 0.370008 0.5228 0.4455 0.5219 Uncertain 22_38626556_G->T 22 38626556 38626556 G T snp 377.77 1/1 30 11 0 11 1.0 intronic rs5756982 TMEM184B AU NM_001195072 exon5 c.9199-118G>T 0.184904 0.1329 Uncertain 22_38689137_C->T 22 38689137 38689137 C T snp 463.77 0/1 99 28 12 16 0.57 intronic rs12484542 CSNK1E AU 0.0403355 0.0089 Uncertain 22_38689984_T->A 22 38689984 38689984 T A snp 141.03 1/1 12 5 0 5 1.0 intronic rs5757022 CSNK1E AU NM_001894 exon3 c.822-130T>A 0.830471 0.9018 Uncertain 22_38695099_T->C 22 38695099 38695099 T C snp 307.78 1/1 24 8 0 8 1.0 intronic rs1534891 CSNK1E AU NM_001894 exon5 c.5647+160T>C 0.893171 0.8938 Uncertain 22_38699051_AGGC->- 22 38699051 38699054 AGGC - indel 10565.7 1/1 99 190 0 190 1.0 intronic rs10568239 CSNK1E AU NM_001894 exon8 c.9722+37_9722+40delAGGC 0.880591 0.875 0.885048 0.8693 0.8919 Uncertain 22_38822698_C->T 22 38822698 38822698 C T snp 239.77 0/1 99 15 6 9 0.6 UTR3 rs1063134 KCNJ4 AU 0.148163 0.246 Uncertain 22_38823136_T->C 22 38823136 38823136 T C snp 4371.77 1/1 99 156 0 156 1.0 exonic rs196059 KCNJ4 AU synonymous SNV NM_004981 exon2 c.A1002G p.S334S 0.809505 0.9444 0.693325 0.7030 0.9404 Uncertain 22_38875549_C->T 22 38875549 38875549 C T snp 3062.77 1/1 99 106 0 106 1.0 intronic rs401933 KDELR3 AU NM_006855 exon3 c.11359-48C>T 0.933706 0.8829 0.950177 0.9657 0.8924 Uncertain 22_38877106_C->T 22 38877106 38877106 C T snp 133.03 1/1 12 4 0 4 1.0 intronic rs138432 KDELR3 AU NM_006855 exon4 c.12978-110C>T 0.999002 1 Uncertain 22_38877461_T->G 22 38877461 38877461 T G snp 2497.77 1/1 99 89 0 89 1.0 exonic rs12004 KDELR3 AU nonsynonymous SNV NM_006855 exon4 c.T596G p.V199G 0.255192 0.3542 0.265877 0.2884 0.3693 0.03 T 1.000 P -1.143 T 0.823 T 0.568 P Pathogenic 22_38889657_C->T 22 38889657 38889657 C T snp 4042.77 1/1 99 151 0 151 1.0 intronic rs2267390 DDX17 AU NM_006386 exon4 c.7775-57C>T 0.254193 0.3532 0.268944 Uncertain 22_38895522_AAG->- 22 38895522 38895524 AAG - indel 7120.73 1/1 99 141 0 141 1.0 intronic rs3833951 DDX17 AU NM_006386 exon11 c.13565+18_13565+20delAAG 0.254593 0.3562 0.263339 0.2855 0.3671 Uncertain 22_38903624_T->C 22 38903624 38903624 T C snp 1994.77 0/1 99 157 72 85 0.54 intergenic rs151030835 DDX17 AU 0.0135783 0.0635 0.0023 0.0679 Uncertain 22_38916090_C->T 22 38916090 38916090 C T snp 1380.77 0/1 99 159 95 64 0.4 exonic DMC1 AU nonsynonymous SNV NM_007068 exon14 c.G958A p.E320K 0.77 T 1.000 D -0.900 T 0.003 T 0.021 T Pathogenic 22_38917543_-->AC 22 38917543 38917543 - AC indel 235.73 0/1 82 11 3 8 0.73 intronic rs111317680 DMC1 AU NM_007068 exon2 c.1588-69insAC Uncertain 22_38934201_A->T 22 38934201 38934201 A T snp 626.77 0/1 99 43 21 22 0.51 intronic rs535057900 DMC1 AU NM_007068 exon4 c.18275-98A>T 0.000599042 0.002 Uncertain 22_38982321_T->C 22 38982321 38982321 T C snp 104.28 1/1 9 5 0 5 1.0 intronic rs5750627 FAM227A AU NM_001013647 exon1 c.75+117T>C 0.363818 0.4643 Uncertain 22_38993370_C->T 22 38993370 38993370 C T snp 2450.77 1/1 99 79 0 79 1.0 intronic rs5757162 FAM227A AU NM_001013647 exon3 c.11232+9C>T 0.241014 0.3482 0.251862 0.2762 0.3601 0.000 P Uncertain 22_38993467_A->G 22 38993467 38993467 A G snp 227.84 1/1 18 7 0 7 1.0 intronic rs5750633 FAM227A AU NM_001013647 exon3 c.11232+106A>G 0.363219 0.4623 Uncertain 22_39003495_G->A 22 39003495 39003495 G A snp 3581.77 1/1 99 135 0 135 1.0 intronic rs5757169 FAM227A AU NM_001013647 exon6 c.21352+14G>A 0.363618 0.4643 0.352606 0.3303 0.4529 Uncertain 22_39016182_T->C 22 39016182 39016182 T C snp 535.77 1/1 39 19 0 19 1.0 intronic rs4821797 FAM227A AU NM_001013647 exon7 c.34087-34T>C 0.397364 0.4653 0.3600 0.4281 Uncertain 22_39024961_G->T 22 39024961 39024961 G T snp 1161.77 1/1 84 39 0 39 1.0 intronic rs5995602 FAM227A AU NM_001013647 exon11 c.42811+21G>T 0.977037 0.999 0.958388 0.9457 0.9871 Uncertain 22_39032348_C->T 22 39032348 39032348 C T snp 37.77 0/1 66 4 2 2 0.5 intronic rs11089893 FAM227A AU NM_001013647 exon12 c.50326-107C>T 0.124002 0.1845 Uncertain 22_39034867_G->A 22 39034867 39034867 G A snp 3160.77 1/1 99 113 0 113 1.0 intronic rs5757193 FAM227A AU NM_001013647 exon13 c.52698+40G>A 0.242013 0.3482 0.247262 0.2895 0.3675 Uncertain 22_39045885_GAAAG->- 22 39045885 39045889 GAAAG - indel 303.87 1/1 15 5 0 5 1.0 intronic rs143131237 FAM227A AU NM_001013647 exon16 c.63902-146_63902-142delGAAAG Uncertain 22_39064209_G->A 22 39064209 39064209 G A snp 1074.77 1/1 78 34 0 34 1.0 intronic rs2072795 CBY1 AU NM_015373 exon2 c.78+72G>A 0.285144 0.3502 Uncertain 22_39064230_A->G 22 39064230 39064230 A G snp 717.77 1/1 54 22 0 22 1.0 intronic rs2072796 CBY1 AU NM_015373 exon2 c.78+93A>G 0.285343 0.3502 Uncertain 22_39066820_C->T 22 39066820 39066820 C T snp 536.77 1/1 39 20 0 20 1.0 intronic rs3761454 CBY1 AU NM_015373 exon3 c.2829-68C>T 0.285743 0.3512 Uncertain 22_39069045_A->G 22 39069045 39069045 A G snp 267.8 1/1 21 7 0 7 1.0 intronic rs3747173 CBY1 AU NM_015373 exon5 c.5104-118A>G 0.285743 0.3502 Uncertain 22_39069181_T->C 22 39069181 39069181 T C snp 1743.77 1/1 99 65 0 65 1.0 exonic rs3747174 CBY1 AU synonymous SNV NM_015373 exon5 c.T321C p.A107A 0.285743 0.3502 0.291635 0.2893 0.3722 Uncertain 22_39077845_G->A 22 39077845 39077845 G A snp 200.8 0/1 21 9 2 7 0.78 upstream TOMM22 AU Uncertain 22_39079964_T->C 22 39079964 39079964 T C snp 129.03 1/1 12 5 0 5 1.0 UTR3 rs5750668 TOMM22 AU 0.286342 0.3532 Uncertain 22_39126508_A->G 22 39126508 39126508 A G snp 3149.77 1/1 99 108 0 108 1.0 intronic rs909564 GTPBP1 AU NM_004286 exon12 c.24656-108A>G 0.458267 0.4732 Uncertain 22_39130964_C->T 22 39130964 39130964 C T snp 86.28 1/1 9 3 0 3 1.0 UTR3 rs1043441 SUN2 AU 0.26857 0.4593 Uncertain 22_39130971_A->G 22 39130971 39130971 A G snp 164.9 1/1 15 5 0 5 1.0 UTR3 rs9835 SUN2 AU 0.436302 0.4712 Uncertain 22_39134207_C->T 22 39134207 39134207 C T snp 2644.77 0/1 99 250 145 105 0.42 exonic rs2072797 SUN2 AU nonsynonymous SNV NM_015374 exon17 c.G2011A p.G671S 0.0950479 0.1677 0.082347 0.1093 0.1837 0.1 T 1.000 P -1.196 T 0.969 D 0.86 D ID=CM076582;DIS=Non-Hodgkin lymphoma, increased risk, association with;TAG=DP;PUB=17827388 DP Pathogenic 22_39134715_T->C 22 39134715 39134715 T C snp 3374.77 1/1 99 119 0 119 1.0 exonic rs1062687 SUN2 AU synonymous SNV NM_015374 exon16 c.A1824G p.Q608Q 0.383986 0.4603 0.370829 0.3223 0.4776 Uncertain 22_39141600_G->A 22 39141600 39141600 G A snp 2194.77 1/1 99 78 0 78 1.0 intronic rs138712 SUN2 AU NM_001199579 exon11 c.9417-88G>A 0.363419 0.4573 Uncertain 22_39146527_C->T 22 39146527 39146527 C T snp 448.77 1/1 36 13 0 13 1.0 intronic rs138716 SUN2 AU NM_001199579 exon14 c.14117+139C>T 0.256789 0.4583 Uncertain 22_39148483_G->A 22 39148483 39148483 G A snp 1682.77 1/1 99 70 0 70 1.0 intronic rs2072798 SUN2 AU NM_001199579 exon17 c.16240-28G>A 0.304513 0.4544 0.287406 0.3042 0.4692 Uncertain 22_39150543_G->T 22 39150543 39150543 G T snp 56.74 1/1 6 2 0 2 1.0 intronic rs2072794 SUN2 AU NM_001199580 exon18 c.18375-103G>T 0.300919 0.4544 Uncertain 22_39151058_G->- 22 39151058 39151058 G - indel 1592.73 1/1 99 42 0 42 1.0 intronic rs397832277 SUN2 AU NM_001199580 exon19 c.19005-218delG 0.378794 0.4534 Uncertain 22_39178701_A->G 22 39178701 39178701 A G snp 639.77 0/1 99 63 35 28 0.44 exonic rs760482 DNAL4 AR synonymous SNV NM_005740 exon2 c.T36C p.D12D 0.41254 0.6925 0.326695 0.3309 0.6825 Uncertain 22_39222652_G->A 22 39222652 39222652 G A snp 1713.77 0/1 99 132 62 70 0.53 exonic rs5757299 NPTXR AU synonymous SNV NM_014293 exon3 c.C951T p.Y317Y 0.460264 0.7589 0.393126 0.4147 0.7598 Uncertain 22_39224248_T->C 22 39224248 39224248 T C snp 1443.77 0/1 99 107 47 60 0.56 intronic rs5757300 NPTXR AU NM_014293 exon4 c.5678-43T>C 0.684305 0.7887 0.675742 0.6050 0.7921 Uncertain 22_39239172_C->G 22 39239172 39239172 C G snp 99.28 1/1 9 4 0 4 1.0 intronic rs3747176 NPTXR AU NM_014293 exon5 c.20626-67C>G 0.709065 0.8601 Uncertain 22_39239687_C->G 22 39239687 39239687 C G snp 407.77 0/1 99 32 15 17 0.53 exonic rs180925984 NPTXR AU synonymous SNV NM_014293 exon1 c.G177C p.L59L 0.0497204 0.0804 Uncertain 22_39267312_C->T 22 39267312 39267312 C T snp 99.28 1/1 9 4 0 4 1.0 intronic rs1122771 CBX6 AU NM_014292 exon2 c.5271-172C>T 0.842053 0.8542 0.8278 0.8691 Uncertain 22_39355415_A->G 22 39355415 39355415 A G snp 178.77 0/1 99 14 8 6 0.43 intronic rs1977069 APOBEC3A AU NM_145699 exon2 c.1850-131A>G 0.503794 0.502 Uncertain 22_39355717_G->A 22 39355717 39355717 G A snp 525.77 1/1 39 16 0 16 1.0 intronic rs5750717 APOBEC3A AU NM_145699 exon2 c.1995+26G>A 0.820088 0.9633 0.709749 0.6991 0.9483 Uncertain 22_39358037_A->C 22 39358037 39358037 A C snp 35.77 0/1 64 8 5 3 0.38 intronic rs12628403 APOBEC3A AU NM_145699 exon4 c.4406-65A>C 0.138978 0.3413 Uncertain 22_39382079_C->A 22 39382079 39382079 C A snp 1558.77 1/1 99 50 0 50 1.0 exonic rs5995649 APOBEC3B AU nonsynonymous SNV NM_004900 exon3 c.C437A p.T146K 0.949681 0.9792 0.951120 0.9492 0.9702 1 T 0.0 P -0.995 T 0.0 T 0.004 T Pathogenic 22_39410500_C->G 22 39410500 39410500 C G snp 93.28 1/1 9 3 0 3 1.0 intronic rs2244104 APOBEC3C AU NM_014508 exon1 c.17+116C>G 0.275759 0.2748 Uncertain 22_39448337_G->C 22 39448337 39448337 G C snp 2104.77 0/1 99 186 101 85 0.46 exonic rs763711558 APOBEC3F AU nonsynonymous SNV NM_145298 exon6 c.G982C p.V328L 0.0002 0.0022 0.19 T 1.000 N -0.967 T 0.907 T 0.345 P Pathogenic 22_39496134_G->C 22 39496134 39496134 G C snp 93.28 1/1 9 3 0 3 1.0 intronic rs139290 APOBEC3H AU 0.41234 0.3214 Uncertain 22_39496199_T->C 22 39496199 39496199 T C snp 1686.77 1/1 99 52 0 52 1.0 intronic rs139291 APOBEC3H AU 0.411941 0.3204 Uncertain 22_39496323_AAC->- 22 39496323 39496325 AAC - indel 8862.73 1/1 99 167 0 167 1.0 exonic rs139292 APOBEC3H AU nonframeshift deletion NM_181773 exon2 c.40_42del p.14_14del 0.317492 0.2579 0.323722 0.3430 0.2679 ID=COSM1416316;OCCURENCE=1(large_intestine) Uncertain 22_39496412_G->C 22 39496412 39496412 G C snp 2846.77 1/1 99 103 0 103 1.0 exonic rs139294 APOBEC3H AU synonymous SNV NM_181773 exon2 c.G129C p.T43T 0.514776 0.3333 0.560049 0.4772 0.3456 Uncertain 22_39497160_C->T 22 39497160 39497160 C T snp 133.03 1/1 12 4 0 4 1.0 intronic rs13055594 APOBEC3H AU NM_001166004 exon3 c.958-81C>T Uncertain 22_39497181_T->A 22 39497181 39497181 T A snp 414.77 1/1 33 12 0 12 1.0 intronic rs9611092 APOBEC3H AU NM_001166004 exon3 c.958-60T>A 0.319688 0.255 Uncertain 22_39497404_G->C 22 39497404 39497404 G C snp 1429.77 1/1 66 57 1 56 0.98 exonic rs139297 APOBEC3H AU nonsynonymous SNV NM_181773 exon3 c.G313C p.G105R 0.52476 0.3155 0.579502 0.4818 0.3188 1 T 0.0 P -0.968 T 0.0 T 0.001 T ID=CM092918;DIS=Increased antiretroviral activity;TAG=FP;PUB=18945781 FP Pathogenic 22_39497452_A->G 22 39497452 39497452 A G snp 768.77 1/1 57 24 0 24 1.0 exonic rs139298 APOBEC3H AU nonsynonymous SNV NM_181773 exon3 c.A361G p.K121E 0.529752 0.3155 0.575042 0.4851 0.3172 1 T 0.0 P -1.033 T 0.0 T 0.003 T Pathogenic 22_39497454_G->C 22 39497454 39497454 G C snp 699.77 1/1 51 22 0 22 1.0 exonic rs139299 APOBEC3H AU nonsynonymous SNV NM_181773 exon3 c.G363C p.K121N 0.529752 0.3155 0.576349 0.4852 0.3173 0.01 T 0.000 P -1.034 T 0.154 T 0.231 T Pathogenic 22_39497509_A->G 22 39497509 39497509 A G snp 314.78 1/1 24 10 0 10 1.0 splicing rs139300 APOBEC3H AU NM_001166004 exon3 c.1224+2A>G 1 1 1 1 1 T 0.0 P -0.944 T Pathogenic 22_39497549_C->T 22 39497549 39497549 C T snp 54.74 1/1 6 2 0 2 1.0 intronic rs78724870 APOBEC3H AU NM_001166004 exon3 c.1224+42C>T 0.048123 0.0853 0.021387 0.0467 0.1017 Uncertain 22_39497811_A->G 22 39497811 39497811 A G snp 341.78 1/1 27 10 0 10 1.0 intronic rs139301 APOBEC3H AU NM_001166002 exon4 c.1636-108A>G 0.533546 0.3313 Uncertain 22_39498038_G->C 22 39498038 39498038 G C snp 3078.77 1/1 99 112 0 112 1.0 exonic rs139302 APOBEC3H AU nonsynonymous SNV NM_181773 exon4 c.G534C p.E178D 0.515575 0.3313 0.570890 0.4786 0.3405 0.28 T 0.0 P -1.012 T 0.006 T 0.016 T Pathogenic 22_39498374_A->- 22 39498374 39498374 A - indel 598.73 1/1 42 14 0 14 1.0 intronic rs139304 APOBEC3H AU NM_001166004 exon4 c.2231-140delA 1 1 Uncertain 22_39498677_A->C 22 39498677 39498677 A C snp 124.03 1/1 12 4 0 4 1.0 intronic rs139305 APOBEC3H AU NM_001166004 exon4 c.2327+67A>C 0.533946 0.3313 Uncertain 22_39499575_G->T 22 39499575 39499575 G T snp 702.77 1/1 54 19 0 19 1.0 intronic rs139313 APOBEC3H AU NM_001166003 exon6 c.3410-118G>T 0.519369 0.3323 Uncertain 22_39499604_T->C 22 39499604 39499604 T C snp 977.77 1/1 72 30 0 30 1.0 intronic rs139314 APOBEC3H AU NM_001166003 exon6 c.3410-89T>C 0.310104 0.254 0.319536 Uncertain 22_39499653_C->T 22 39499653 39499653 C T snp 2012.77 1/1 99 71 1 70 0.99 intronic rs139315 APOBEC3H AU NM_001166003 exon6 c.3410-40C>T 0.50619 0.3323 0.559511 0.4746 0.3416 Uncertain 22_39499763_T->C 22 39499763 39499763 T C snp 3854.77 1/1 99 142 0 142 1.0 UTR3 rs139316 APOBEC3H AU 0.50619 0.3323 0.550591 Uncertain 22_39499902_C->T 22 39499902 39499902 C T snp 823.77 1/1 60 23 0 23 1.0 UTR3 rs139317 APOBEC3H AU 0.526558 0.3323 Uncertain 22_39626375_A->C 22 39626375 39626375 A C snp 261.8 1/1 21 8 0 8 1.0 intronic rs4821874 PDGFB AU,AD NM_033016 exon3 c.4506+142A>C 0.785343 0.8651 Uncertain 22_39631547_T->C 22 39631547 39631547 T C snp 425.77 1/1 33 11 0 11 1.0 intronic rs879180 PDGFB AU,AD NM_033016 exon6 c.10055-235T>C 0.822684 0.9048 Uncertain 22_39636928_A->G 22 39636928 39636928 A G snp 1167.77 1/1 87 35 0 35 1.0 intronic rs5757575 PDGFB AU,AD NM_033016 exon7 c.15187+14A>G 0.665535 0.9058 0.435107 0.5607 0.8291 Uncertain 22_39636930_A->G 22 39636930 39636930 A G snp 991.77 1/1 72 30 0 30 1.0 intronic rs5757576 PDGFB AU,AD NM_033016 exon7 c.15187+16A>G 0.655751 0.8968 0.241568 Uncertain 22_39636945_CACT->- 22 39636945 39636948 CACT - indel 1138.73 1/1 63 23 0 23 1.0 intronic rs138673005 PDGFB AU,AD NM_033016 exon7 c.15187+31_15187+34delCACT 0.366214 0.4702 Uncertain 22_39639853_G->T 22 39639853 39639853 G T snp 5580.77 1/1 99 226 1 225 1.0 intronic rs1800817 PDGFB AU,AD NM_002608 exon7 c.18178-52G>T 0.753994 0.9048 0.703679 Uncertain 22_39709009_G->A 22 39709009 39709009 G A snp 5060.77 1/1 99 203 0 203 1.0 intronic rs2014842 RPL3 AU NM_000967 exon1 c.45+20G>A 0.252396 0.6637 0.123712 0.2169 0.6896 Uncertain 22_39711351_A->G 22 39711351 39711351 A G snp 6585.77 1/1 99 236 0 236 1.0 intronic rs2076125 RPL3 AU NM_000967 exon6 c.2429-22A>G 0.311502 0.7411 0.150853 0.2604 0.7544 Uncertain 22_39712981_A->G 22 39712981 39712981 A G snp 2440.77 1/1 99 86 0 86 1.0 intronic rs137623 RPL3 AU NM_000967 exon7 c.3902+135A>G 0.949481 1 0.9210 0.9984 Uncertain 22_39713105_C->T 22 39713105 39713105 C T snp 469.77 1/1 36 17 0 17 1.0 intronic rs470081 RPL3 AU NM_000967 exon7 c.3902+259C>T 0.89377 0.998 Uncertain 22_39713128_A->G 22 39713128 39713128 A G snp 356.78 1/1 27 11 0 11 1.0 intronic rs2072872 RPL3 AU NM_000967 exon7 c.3902+282A>G 0.519968 0.878 Uncertain 22_39714216_A->G 22 39714216 39714216 A G snp 155.9 1/1 15 7 0 7 1.0 intronic rs738331 RPL3 AU NM_000967 exon9 c.5460-188A>G 0.520168 0.878 Uncertain 22_39714704_C->T 22 39714704 39714704 C T snp 580.77 1/1 45 17 0 17 1.0 intronic rs1569498 RPL3 AU NM_000967 exon9 c.5653+107C>T 0.409744 0.8175 Uncertain 22_39714908_A->G 22 39714908 39714908 A G snp 1611.77 1/1 99 59 0 59 1.0 intronic rs137625 RPL3 AU NM_000967 exon9 c.5653+311A>G 0.941693 1 Uncertain 22_39746168_C->A 22 39746168 39746168 C A snp 2920.77 1/1 99 111 0 111 1.0 intronic rs3747177 SYNGR1 AU NM_004711 exon1 c.99+54C>A 0.335863 0.7698 Uncertain 22_39770597_A->G 22 39770597 39770597 A G snp 5477.77 1/1 99 185 0 185 1.0 intronic rs4821888 SYNGR1 AU NM_004711 exon2 c.24543+39A>G 0.746006 0.999 0.605048 0.7116 0.9961 Uncertain 22_39770780_G->A 22 39770780 39770780 G A snp 222.84 1/1 18 6 0 6 1.0 intronic rs4820377 SYNGR1 AU NM_004711 exon2 c.24543+222G>A 0.774361 0.999 Uncertain 22_39777822_-->CAA 22 39777822 39777822 - CAA indel 9727.73 1/1 99 166 0 166 1.0 exonic rs149306472 SYNGR1 AU nonframeshift insertion NM_004711 exon4 c.605_606insCAA p.P202delinsPN 0.860823 0.999 0.740788 0.7585 0.9980 ID=COSM1484245;OCCURENCE=2(breast) Uncertain 22_39795683_G->C 22 39795683 39795683 G C snp 880.77 1/1 66 29 0 29 1.0 upstream rs4821892 TAB1 AU 0.864018 0.999 Uncertain 22_39812986_C->A 22 39812986 39812986 C A snp 2668.77 1/1 99 92 2 90 0.98 intronic rs6001585 TAB1 AU NM_006116 exon4 c.17075+104C>A 0.919129 0.999 Uncertain 22_39823015_A->G 22 39823015 39823015 A G snp 507.77 1/1 39 13 0 13 1.0 intronic rs4821895 TAB1 AU NM_006116 exon9 c.27123+85A>G 0.799321 0.9673 Uncertain 22_39966856_C->T 22 39966856 39966856 C T snp 763.77 0/1 99 64 37 27 0.42 exonic rs3747178 CACNA1I AU synonymous SNV NM_021096 exon1 c.C99T p.S33S 0.328874 0.7272 0.230726 0.3209 0.7194 Uncertain 22_39969767_T->C 22 39969767 39969767 T C snp 973.77 1/1 69 37 0 37 1.0 intronic rs5750851 CACNA1I AU NM_021096 exon1 c.236+2774T>C 0.696486 0.9712 Uncertain 22_39969895_C->T 22 39969895 39969895 C T snp 354.77 0/1 99 39 23 16 0.41 intronic rs12484689 CACNA1I AU NM_021096 exon1 c.236+2902C>T 0.236022 0.2272 Uncertain 22_39994105_A->G 22 39994105 39994105 A G snp 2354.77 0/1 99 182 85 97 0.53 intronic rs760546 CACNA1I AU NM_021096 exon2 c.27398-50A>G 0.828075 0.8472 0.836925 Uncertain 22_39994293_-->GCCCT 22 39994293 39994293 - GCCCT indel 1543.73 0/1 99 65 25 40 0.62 intronic rs148307297 CACNA1I AU NM_021096 exon2 c.27510+26insGCCCT 0.527356 0.8125 0.358348 0.3877 0.7935 Uncertain 22_40015493_C->T 22 40015493 40015493 C T snp 491.77 0/1 99 24 7 17 0.71 intronic rs12628643 CACNA1I AU NM_021096 exon4 c.48655+81C>T 0.504393 0.8452 Uncertain 22_40030477_C->A 22 40030477 40030477 C A snp 192.77 0/1 99 14 7 7 0.5 intronic rs5757756 CACNA1I AU NM_021096 exon5 c.63812-92C>A 0.491613 0.8899 Uncertain 22_40043812_A->G 22 40043812 40043812 A G snp 619.77 0/1 99 61 28 33 0.54 intronic rs5757759 CACNA1I AU NM_021096 exon9 c.77069-14A>G 0.578275 0.87 0.415656 0.4681 0.8853 Uncertain 22_40046077_A->G 22 40046077 40046077 A G snp 220.84 1/1 18 7 0 7 1.0 intronic rs136828 CACNA1I AU NM_021096 exon10 c.79173+147A>G 0.40016 0.8542 Uncertain 22_40054428_T->G 22 40054428 40054428 T G snp 1407.77 1/1 99 40 0 40 1.0 intronic rs136848 CACNA1I AU NM_021096 exon11 c.87551+120T>G 0.715455 0.995 Uncertain 22_40054948_T->C 22 40054948 40054948 T C snp 4013.77 1/1 99 149 0 149 1.0 exonic rs5757761 CACNA1I AU synonymous SNV NM_021096 exon12 c.T2157C p.I719I 0.748403 0.994 0.626428 0.6826 0.9949 Uncertain 22_40055304_T->C 22 40055304 40055304 T C snp 436.77 1/1 33 13 0 13 1.0 intronic rs136850 CACNA1I AU NM_021096 exon13 c.88680-133T>C 0.738019 0.994 Uncertain 22_40055896_T->C 22 40055896 40055896 T C snp 2757.77 1/1 99 93 0 93 1.0 intronic rs136851 CACNA1I AU NM_021096 exon14 c.89100+39T>C 0.739018 0.994 0.606653 0.6244 0.9958 Uncertain 22_40057273_T->C 22 40057273 40057273 T C snp 2130.77 1/1 99 77 1 76 0.99 exonic rs136852 CACNA1I AU synonymous SNV NM_021096 exon16 c.T2859C p.S953S 0.736821 0.994 0.608009 0.6302 0.9959 Uncertain 22_40058186_A->G 22 40058186 40058186 A G snp 2979.77 1/1 99 105 0 105 1.0 exonic rs136853 CACNA1I AU nonsynonymous SNV NM_021096 exon17 c.A3118G p.I1040V 0.736821 0.994 0.641070 0.5961 0.9953 0.29 T 0.0 P -0.903 T 0.0 T 0.0 T Pathogenic 22_40064558_T->C 22 40064558 40064558 T C snp 176.9 1/1 15 5 0 5 1.0 intronic rs136857 CACNA1I AU NM_021096 exon24 c.97629+172T>C 0.867013 0.996 Uncertain 22_40068051_C->T 22 40068051 40068051 C T snp 274.8 1/1 21 11 0 11 1.0 intronic rs4820386 CACNA1I AU NM_021096 exon27 c.101446-152C>T 0.635583 0.9623 Uncertain 22_40068853_T->C 22 40068853 40068853 T C snp 1480.77 1/1 99 48 0 48 1.0 intronic rs2235342 CACNA1I AU NM_021096 exon28 c.102196-100T>C 0.638379 0.9623 Uncertain 22_40069245_T->C 22 40069245 40069245 T C snp 434.77 1/1 33 13 0 13 1.0 intronic rs738315 CACNA1I AU NM_021096 exon28 c.102330+158T>C 0.638978 0.9623 Uncertain 22_40070234_T->C 22 40070234 40070234 T C snp 628.77 1/1 48 18 0 18 1.0 intronic rs714031 CACNA1I AU NM_021096 exon29 c.103281+196T>C 0.639577 0.9623 Uncertain 22_40075473_T->C 22 40075473 40075473 T C snp 203.84 1/1 18 6 0 6 1.0 intronic rs7288746 CACNA1I AU NM_021096 exon32 c.108693+23T>C 0.928315 0.999 0.922807 0.8831 1 Uncertain 22_40364415_A->G 22 40364415 40364415 A G snp 510.77 1/1 39 17 0 17 1.0 intronic rs2267423 GRAP2 AU NM_001291826 exon5 c.8172+139A>G 0.284744 0.0913 Uncertain 22_40545998_-->A 22 40545998 40545998 - A indel 1549.73 1/1 99 47 0 47 1.0 intronic rs35899845 TNRC6B AU NM_001024843 exon4 c.30297-6120insA 0.694688 0.4484 Uncertain 22_40546041_-->A 22 40546041 40546041 - A indel 2530.73 1/1 99 76 0 76 1.0 intronic rs35629137 TNRC6B AU NM_001024843 exon4 c.30297-6077insA 0.698482 0.4494 Uncertain 22_40546153_G->A 22 40546153 40546153 G A snp 970.77 1/1 69 38 0 38 1.0 intronic rs5995826 TNRC6B AU NM_001024843 exon4 c.30297-5965G>A 0.675519 0.4484 Uncertain 22_40574170_T->A 22 40574170 40574170 T A snp 3294.77 1/1 99 128 1 127 0.99 intronic rs6001827 TNRC6B AU NM_001162501 exon1 c.5+26T>A 0.696486 0.4425 0.690181 0.6363 0.4243 Uncertain 22_40669648_A->G 22 40669648 40669648 A G snp 353.77 0/1 99 40 25 15 0.38 intronic rs733381 TNRC6B AU NM_001162501 exon7 c.95465+44A>G 0.233626 0.2857 0.158877 0.2441 0.2980 Uncertain 22_40673999_C->T 22 40673999 40673999 C T snp 3497.77 1/1 99 123 0 123 1.0 splicing rs2413621 TNRC6B AU NM_001162501 exon9 c.99863-3C>T 0.638379 0.9871 0.580286 0.7184 0.9847 Pathogenic 22_40677001_T->C 22 40677001 40677001 T C snp 1401.77 1/1 99 42 0 42 1.0 intronic rs929070 TNRC6B AU NM_001162501 exon11 c.102983-121T>C 0.640176 0.9891 Uncertain 22_40681788_C->T 22 40681788 40681788 C T snp 4085.77 1/1 99 149 2 147 0.99 intronic rs6001862 TNRC6B AU NM_001162501 exon12 c.107635+14C>T 0.34365 0.4365 0.271590 0.3727 0.4153 Uncertain 22_40697377_A->G 22 40697377 40697377 A G snp 2699.77 1/1 99 95 0 95 1.0 intronic rs5995843 TNRC6B AU NM_001162501 exon15 c.123198+40A>G 0.347644 0.4365 0.280743 0.3916 0.4424 Uncertain 22_40708679_T->C 22 40708679 40708679 T C snp 4855.77 1/1 99 181 0 181 1.0 intronic rs2072858 TNRC6B AU NM_001162501 exon18 c.134516+24T>C 0.347444 0.4375 0.280151 0.3807 0.4197 Uncertain 22_40711227_-->T 22 40711227 40711227 - T indel 989.73 0/1 99 78 46 32 0.41 intronic rs3830738 TNRC6B AU NM_001162501 exon20 c.137147-59insT 0.262979 0.2996 Uncertain 22_40742831_A->G 22 40742831 40742831 A G snp 182.77 0/1 99 12 6 6 0.5 intronic rs3788577 ADSL AR NM_001123378 exon1 c.153+116A>G 0.209665 0.2163 Uncertain 22_40754827_TCTC->- 22 40754827 40754830 TCTC - indel 4843.73 0/1 99 142 71 71 0.5 intronic rs3830737 ADSL AR NM_001123378 exon5 c.12305-40_12305-37delTCTC 0.169129 0.2153 0.132109 0.2073 0.1925 Uncertain 22_40757228_A->C 22 40757228 40757228 A C snp 784.77 0/1 99 60 30 30 0.5 intronic rs8135371 ADSL AR NM_001123378 exon8 c.14714-48A>C 0.121406 0.0903 0.124173 0.1350 0.0991 Uncertain 22_40797447_T->A 22 40797447 40797447 T A snp 40.77 0/1 31 4 2 2 0.5 intronic rs9611337 SGSM3 AU NM_015705 exon3 c.786-149T>A 0.338658 0.2163 Uncertain 22_40800518_G->A 22 40800518 40800518 G A snp 2364.77 0/1 99 250 156 94 0.38 intronic rs760701 SGSM3 AU NM_015705 exon6 c.3750-42G>A 0.184105 0.2143 0.155159 0.2162 0.1957 Uncertain 22_40800544_C->T 22 40800544 40800544 C T snp 2188.77 0/1 99 248 157 91 0.37 intronic rs2235318 SGSM3 AU NM_015705 exon6 c.3750-16C>T 0.183706 0.2143 0.155082 0.2174 0.1998 Uncertain 22_40801312_A->G 22 40801312 40801312 A G snp 273.77 0/1 99 29 19 10 0.34 intronic rs12483888 SGSM3 AU NM_015705 exon7 c.4478+24A>G 0.166534 0.2688 0.084139 0.2012 0.2634 Uncertain 22_40801855_C->T 22 40801855 40801855 C T snp 753.77 0/1 99 53 23 30 0.57 intronic rs188579679 SGSM3 AU NM_015705 exon8 c.5038+7C>T 0.00359425 0.0169 0.000538 0.0026 0.0283 Uncertain 22_40803112_C->T 22 40803112 40803112 C T snp 1365.77 0/1 99 100 46 54 0.54 intronic rs55844816 SGSM3 AU NM_015705 exon11 c.6265+37C>T 0.15655 0.2133 0.099077 0.2260 0.2644 Uncertain 22_40803186_G->T 22 40803186 40803186 G T snp 4643.77 1/1 99 175 0 175 1.0 intronic rs2018393 SGSM3 AU NM_015705 exon12 c.6394-18G>T 0.622804 0.3006 0.630883 0.5557 0.2858 Uncertain 22_40814500_T->C 22 40814500 40814500 T C snp 2443.77 0/1 99 184 81 103 0.56 exonic rs878756 MKL1 AU nonsynonymous SNV NM_020831 exon12 c.A1942G p.S648G 0.483227 0.1111 0.554052 0.4003 0.1106 0.57 T 0.0 P -1.000 T 0.0 T 0.0 T Pathogenic 22_40814594_C->T 22 40814594 40814594 C T snp 1423.77 0/1 99 131 68 63 0.48 exonic rs56211152 MKL1 AU synonymous SNV NM_020831 exon12 c.G1848A p.P616P 0.209665 0.0694 0.217347 0.1973 0.0733 Uncertain 22_40816749_G->A 22 40816749 40816749 G A snp 204.8 0/1 21 8 1 7 0.88 intronic rs2072856 MKL1 AU NM_001282660 exon6 c.9457-101G>A 0.407348 0.1022 Uncertain 22_40816841_G->A 22 40816841 40816841 G A snp 473.77 0/1 99 40 23 17 0.42 intronic rs2072857 MKL1 AU NM_001282660 exon6 c.9457-9G>A 0.0984425 0.2361 0.063894 0.1015 0.2166 Uncertain 22_40825814_G->A 22 40825814 40825814 G A snp 93.77 0/1 99 16 12 4 0.25 intronic rs1106673 MKL1 AU NM_001282660 exon9 c.18378+43G>A 0.125799 0.2381 0.090189 0.1097 0.2222 Uncertain 22_40827319_G->A 22 40827319 40827319 G A snp 962.77 0/1 99 88 46 42 0.48 intronic rs2294352 MKL1 AU NM_001282660 exon10 c.20015-89G>A 0.125998 0.2381 Uncertain 22_40832375_A->G 22 40832375 40832375 A G snp 1613.77 0/1 99 209 131 78 0.37 intronic rs9306345 MKL1 AU NM_001282660 exon11 c.24165+817A>G 0.180112 0.2421 Uncertain 22_40832501_G->C 22 40832501 40832501 G C snp 342.77 0/1 99 30 18 12 0.4 intronic rs12158872 MKL1 AU NM_001282660 exon11 c.24165+943G>C 0.144968 0.2381 Uncertain 22_40915718_C->T 22 40915718 40915718 C T snp 30.77 0/1 59 5 3 2 0.4 intronic rs5757976 MKL1 AU NM_020831 exon13 c.140716-32391C>T 0.482827 0.8869 Uncertain 22_41075543_A->G 22 41075543 41075543 A G snp 3442.77 1/1 99 119 1 118 0.99 exonic rs133072 MCHR1 AU nonsynonymous SNV NM_005297 exon1 c.A94G p.N32D 0.667732 0.9802 0.654438 0.6260 0.9824 1 T 0.0 P -0.939 T 0.0 T 0.0 T Pathogenic 22_41075695_C->T 22 41075695 41075695 C T snp 4112.77 1/1 99 151 0 151 1.0 exonic rs133073 MCHR1 AU synonymous SNV NM_005297 exon1 c.C246T p.N82N 0.617612 0.9792 0.600031 0.5956 0.9822 Uncertain 22_41172351_A->G 22 41172351 41172351 A G snp 1160.77 1/1 84 38 0 38 1.0 intronic rs6002128 SLC25A17 AU NM_006358 exon3 c.6206-692A>G 0.999401 1 0.9996 1 Uncertain 22_41193574_G->A 22 41193574 41193574 G A snp 129.03 1/1 12 4 0 4 1.0 intronic rs138305 SLC25A17 AU NM_001282726 exon8 c.26503+234G>A 0.663339 0.3423 Uncertain 22_41194909_C->T 22 41194909 41194909 C T snp 837.77 1/1 66 27 0 27 1.0 intronic rs138306 SLC25A17 AU NM_006358 exon8 c.28189-117C>T 0.684505 0.3423 Uncertain 22_41227086_C->G 22 41227086 41227086 C G snp 903.77 1/1 36 32 1 31 0.97 intronic rs138335 ST13 AU NM_001278589 exon4 c.4419+126C>G 0.741014 0.5188 Uncertain 22_41302973_A->T 22 41302973 41302973 A T snp 3228.29 1/1 99 108 0 108 1.0 intronic rs5995963 XPNPEP3 AR NM_022098 exon5 c.50405-617A>T 0.59365 0.9395 Uncertain 22_41347717_A->G 22 41347717 41347717 A G snp 77.77 0/1 30 4 1 3 0.75 intronic rs186244893 RBX1 AU NM_014248 exon1 c.78+237A>G 0.00359425 0.0179 Uncertain 22_41531753_T->C 22 41531753 41531753 T C snp 949.77 0/1 99 78 41 37 0.47 intronic rs141721816 EP300 AU,AD,AO NM_001429 exon7 c.42808-63T>C 0.00299521 0.0149 Uncertain 22_41537234_G->T 22 41537234 41537234 G T snp 1811.77 1/1 99 68 0 68 1.0 intronic rs6002267 EP300 AU,AD,AO NM_001429 exon10 c.48218+8G>T 0.961661 1 0.9892 0.9999 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_multiple_submitters\x2c_no_conflicts;CLNACC=RCV000079669.4;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 22_41550954_C->T 22 41550954 41550954 C T snp 1538.77 0/1 99 107 49 58 0.54 intronic rs4822011 EP300 AU,AD,AO NM_001429 exon17 c.61990-44C>T 0.673123 0.8175 0.582821 0.6585 0.8083 Uncertain 22_41551039_T->A 22 41551039 41551039 T A snp 2879.77 0/1 99 250 131 119 0.48 exonic rs20552 EP300 AU,AD,AO synonymous SNV NM_001429 exon17 c.T3183A p.T1061T 0.673922 0.8175 0.583115 0.6572 0.8068 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_multiple_submitters\x2c_no_conflicts;CLNACC=RCV000079675.4;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 22_41564708_C->A 22 41564708 41564708 C A snp 2695.77 0/1 99 249 139 110 0.44 intronic rs2294976 EP300 AU,AD,AO NM_001429 exon25 c.75716-16C>A 0.0830671 0.1647 0.070813 0.0893 0.1765 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000079677.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 22_41568480_T->C 22 41568480 41568480 T C snp 713.77 0/1 99 66 41 25 0.38 intronic rs2076577 EP300 AU,AD,AO NM_001429 exon28 c.79494-22T>C 0.534145 0.5913 0.494387 0.6229 0.5990 ID=COSN166760;OCCURENCE=1(haematopoietic_and_lymphoid_tissue) Uncertain 22_41569609_C->T 22 41569609 41569609 C T snp 662.77 0/1 99 69 45 24 0.35 intronic rs2076578 EP300 AU,AD,AO NM_001429 exon29 c.80618-17C>T 0.264177 0.4712 0.258151 0.3085 0.4793 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000079679.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 22_41569887_G->A 22 41569887 41569887 G A snp 249.77 0/1 99 22 13 9 0.41 intronic rs2076580 EP300 AU,AD,AO NM_001429 exon29 c.80780+99G>A 0.26238 0.4613 Uncertain 22_41604353_C->T 22 41604353 41604353 C T snp 137.77 0/1 99 17 12 5 0.29 intronic rs139431 L3MBTL2 AU NM_031488 exon2 c.4333-1346C>T 0.365415 0.1925 0.3932 0.1953 Uncertain 22_41604399_G->A 22 41604399 41604399 G A snp 354.77 0/1 99 31 13 18 0.58 intronic rs4820432 L3MBTL2 AU NM_031488 exon2 c.4333-1300G>A 0.634585 0.8075 0.6871 0.8125 Uncertain 22_41604557_G->A 22 41604557 41604557 G A snp 238.77 0/1 99 20 9 11 0.55 intronic rs139432 L3MBTL2 AU NM_031488 exon2 c.4333-1142G>A 0.365415 0.1925 Uncertain 22_41605635_T->C 22 41605635 41605635 T C snp 966.77 0/1 99 70 31 39 0.56 intronic rs139437 L3MBTL2 AU NM_031488 exon2 c.4333-64T>C 0.365415 0.1925 Uncertain 22_41605639_C->T 22 41605639 41605639 C T snp 981.77 0/1 99 73 34 39 0.53 intronic rs139438 L3MBTL2 AU NM_031488 exon2 c.4333-60C>T 0.363219 0.1915 Uncertain 22_41606030_A->C 22 41606030 41606030 A C snp 251.77 0/1 99 13 5 8 0.62 intronic rs139439 L3MBTL2 AU NM_031488 exon2 c.4571+93A>C 0.365615 0.1925 Uncertain 22_41609859_T->C 22 41609859 41609859 T C snp 705.77 0/1 99 71 45 26 0.37 intronic rs139450 L3MBTL2 AU NM_031488 exon3 c.8530-37T>C 0.364018 0.1885 0.440412 0.3586 0.1959 Uncertain 22_41610024_G->A 22 41610024 41610024 G A snp 1061.77 0/1 99 77 32 45 0.58 exonic rs139451 L3MBTL2 AU synonymous SNV NM_031488 exon3 c.G390A p.R130R 0.364018 0.1885 0.440412 0.3581 0.1955 Uncertain 22_41612965_T->G 22 41612965 41612965 T G snp 231.77 0/1 57 9 2 7 0.78 intronic rs85220 L3MBTL2 AU NM_031488 exon5 c.11760-161T>G 0.364417 0.1885 Uncertain 22_41617026_T->C 22 41617026 41617026 T C snp 46.77 0/1 31 3 1 2 0.67 intronic rs79543 L3MBTL2 AU NM_031488 exon7 c.15506+154T>C 0.757188 0.6012 Uncertain 22_41617160_-->G 22 41617160 41617160 - G indel 722.73 0/1 99 34 15 19 0.56 intronic rs139471 L3MBTL2 AU NM_031488 exon8 c.15836-42insG 0.739816 0.5645 0.734320 0.7148 0.6055 Uncertain 22_41617318_G->C 22 41617318 41617318 G C snp 1639.77 0/1 99 154 80 74 0.48 intronic rs139472 L3MBTL2 AU NM_031488 exon8 c.15925+27G>C 0.755591 0.6012 0.774211 0.7200 0.6512 0.0 P -1.039 T Uncertain 22_41623351_A->G 22 41623351 41623351 A G snp 1003.77 0/1 99 90 51 39 0.43 intronic rs56361238 L3MBTL2 AU NM_031488 exon14 c.21961+24A>G 0.13778 0.1657 0.127240 0.1268 0.2404 Uncertain 22_41645501_G->- 22 41645501 41645501 G - indel 2650.73 0/1 99 202 104 98 0.49 intronic rs139500 RANGAP1 AU NM_002883 exon2 c.2849+46delG 0.823283 0.7212 0.829978 0.7968 0.6967 Uncertain 22_41645757_C->G 22 41645757 41645757 C G snp 1439.77 0/1 99 129 69 60 0.47 exonic rs71948 RANGAP1 AU synonymous SNV NM_002883 exon14 c.G1548C p.L516L 0.748602 0.7212 0.753498 0.7772 0.6991 Uncertain 22_41652345_C->G 22 41652345 41652345 C G snp 902.77 0/1 99 67 30 37 0.55 intronic rs470112 RANGAP1 AU NM_002883 exon8 c.9688+51C>G 0.304313 0.1776 0.400800 0.3908 0.1791 Uncertain 22_41657626_C->T 22 41657626 41657626 C T snp 570.77 0/1 99 54 31 23 0.43 intronic rs2235850 RANGAP1 AU NM_002883 exon11 c.14978+42C>T 0.395567 0.5466 0.296863 0.3771 0.5305 Uncertain 22_41660645_G->A 22 41660645 41660645 G A snp 747.77 0/1 99 66 38 28 0.42 intronic rs2235851 RANGAP1 AU NM_002883 exon12 c.18061-22G>A 0.126398 0.1746 0.135783 0.1695 0.1777 Uncertain 22_41660964_A->G 22 41660964 41660964 A G snp 1501.77 1/1 99 44 0 44 1.0 intronic rs139520 RANGAP1 AU NM_002883 exon12 c.18241+117A>G 0.750399 0.7262 Uncertain 22_41673592_A->T 22 41673592 41673592 A T snp 586.77 0/1 99 56 29 27 0.48 intronic rs8139515 RANGAP1 AU NM_002883 exon14 c.28125+2861A>T 0.126997 0.1756 Uncertain 22_41676559_-->AGCT 22 41676559 41676559 - AGCT indel 329.73 0/1 99 13 7 6 0.46 intronic rs139532 RANGAP1 AU NM_002883 exon15 c.34330-377insAGCT 0.3123 0.1786 Uncertain 22_41718478_C->T 22 41718478 41718478 C T snp 294.77 0/1 99 22 12 10 0.45 intronic rs5758295 ZC3H7B AU NM_017590 exon2 c.53+1761C>T 0.178315 0.4752 Uncertain 22_41736267_A->G 22 41736267 41736267 A G snp 526.77 0/1 99 36 19 17 0.47 intronic rs5751080 ZC3H7B AU NM_017590 exon10 c.19477+126A>G 0.519169 0.5496 Uncertain 22_41737045_C->T 22 41737045 41737045 C T snp 1520.77 0/1 99 164 97 67 0.41 intronic rs2294978 ZC3H7B AU NM_017590 exon11 c.20427-46C>T 0.20627 0.4742 0.106259 0.0649 0.4605 Uncertain 22_41739370_T->C 22 41739370 41739370 T C snp 1750.77 0/1 99 204 129 75 0.37 intronic rs1883828 ZC3H7B AU NM_017590 exon13 c.22754-48T>C 0.675519 0.7351 0.582269 0.5890 0.7289 Uncertain 22_41745355_A->G 22 41745355 41745355 A G snp 780.77 0/1 99 47 21 26 0.55 intronic rs2281331 ZC3H7B AU NM_017590 exon16 c.28641+50A>G 0.673323 0.7401 0.579526 0.5866 0.7309 Uncertain 22_41829794_C->G 22 41829794 41829794 C G snp 1255.77 1/1 90 66 0 66 1.0 UTR3 rs6609 TOB2 AU 0.804513 0.9435 Uncertain 22_41833116_C->T 22 41833116 41833116 C T snp 7562.77 1/1 99 250 0 250 1.0 exonic rs202641 TOB2 AU synonymous SNV NM_016272 exon2 c.G234A p.A78A 0.71266 0.9435 0.748578 0.7318 0.9430 Uncertain 22_41863423_A->G 22 41863423 41863423 A G snp 256.8 1/1 21 7 0 7 1.0 intronic rs202631 PHF5A AU NM_032758 exon2 c.7050-28A>G 0.741613 0.9444 0.783485 0.7449 0.9422 Uncertain 22_41863682_GGGAAATATACTAGTCTCCT->- 22 41863682 41863701 GGGAAATATACTAGTCTCCT - indel 4628.73 0/1 99 93 48 45 0.48 intronic rs150112406 PHF5A AU NM_032758 exon2 c.7217+64_7217+83delGGGAAATATACTAGTCTCCT 0.19349 0.1865 Uncertain 22_41864216_A->C 22 41864216 41864216 A C snp 2717.77 1/1 99 101 0 101 1.0 intronic rs505533 PHF5A AU NM_032758 exon3 c.7750+65A>C 0.491813 0.4306 0.660096 Uncertain 22_41911525_C->T 22 41911525 41911525 C T snp 787.77 0/1 99 62 28 34 0.55 exonic rs1799932 ACO2 AR synonymous SNV NM_001098 exon5 c.C670T p.L224L 0.270367 0.1994 0.383746 0.3993 0.1930 CLINSIG=probable-non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=no_assertion_criteria_provided|criteria_provided\x2c_single_submitter;CLNACC=RCV000116217.2|RCV000123482.1;CLNDSDB=MedGen|MedGen;CLNDSDBID=CN169374|CN221809 Uncertain 22_41913413_C->T 22 41913413 41913413 C T snp 74.77 0/1 99 9 6 3 0.33 intronic rs9619974 ACO2 AR NM_001098 exon7 c.48380-117C>T 0.270966 0.1984 Uncertain 22_41967870_C->T 22 41967870 41967870 C T snp 139.03 1/1 12 4 0 4 1.0 UTR5 rs6002408 CSDC2 AU 0.284944 0.0913 Uncertain 22_41981957_A->G 22 41981957 41981957 A G snp 83.78 0/1 24 4 1 3 0.75 intronic rs5996039 PMM1 AU NM_002676 exon7 c.8758-122A>G 0.339457 0.0903 Uncertain 22_42059768_G->T 22 42059768 42059768 G T snp 331.77 0/1 99 46 32 14 0.3 exonic rs132788 XRCC6 AU synonymous SNV NM_001469 exon13 c.G1779T p.G593G 0.209065 0.2331 0.268107 0.2935 0.2557 Uncertain 22_42076381_C->A 22 42076381 42076381 C A snp 1027.77 0/1 99 76 28 48 0.63 intronic rs5758405 NHP2L1 AU NM_005008 exon2 c.5432+13C>A 0.777756 0.9087 0.835461 0.7528 0.9191 Uncertain 22_42089623_T->C 22 42089623 42089623 T C snp 3415.77 0/1 99 250 114 136 0.54 exonic rs739134 C22orf46 AU nonsynonymous SNV NM_001142964 exon2 c.T373C p.W125R 0.795727 0.9087 0.833771 0.7770 0.9180 0.13 T 0.0 P -1.056 T 0.002 T 0.005 T Pathogenic 22_42090069_A->C 22 42090069 42090069 A C snp 44.77 0/1 33 3 1 2 0.67 UTR3 rs739135 C22orf46 AU 0.841653 0.9365 Uncertain 22_42109917_A->G 22 42109917 42109917 A G snp 389.77 0/1 45 15 2 13 0.87 intronic rs5758431 MEI1 AU NM_152513 exon4 c.14463-88A>G 0.810503 0.9087 Uncertain 22_42111896_A->T 22 42111896 42111896 A T snp 550.77 0/1 99 48 28 20 0.42 intronic rs9306355 MEI1 AU NM_152513 exon5 c.16502-148A>T 0.619808 0.9087 Uncertain 22_42139054_G->A 22 42139054 42139054 G A snp 370.77 0/1 99 33 18 15 0.45 intronic rs5751147 MEI1 AU NM_152513 exon12 c.43541-29G>A 0.840256 0.9355 0.857131 0.7971 0.9415 Uncertain 22_42139078_A->G 22 42139078 42139078 A G snp 426.77 0/1 99 37 17 20 0.54 splicing rs5751148 MEI1 AU NM_152513 exon12 c.43541-5A>G 0.840655 0.9355 0.857235 0.7905 0.9409 Pathogenic 22_42148467_G->A 22 42148467 42148467 G A snp 968.77 0/1 99 89 47 42 0.47 intronic rs715498 MEI1 AU NM_152513 exon16 c.53052-127G>A 0.840655 0.9355 Uncertain 22_42150146_C->T 22 42150146 42150146 C T snp 454.77 0/1 99 80 56 24 0.3 intronic rs1534932 MEI1 AU NM_152513 exon17 c.54508+96C>T 0.841454 0.9355 Uncertain 22_42159072_A->G 22 42159072 42159072 A G snp 77.77 0/1 99 7 4 3 0.43 intronic rs713988 MEI1 AU NM_152513 exon19 c.63635-105A>G 0.841653 0.9355 Uncertain 22_42159073_T->C 22 42159073 42159073 T C snp 77.77 0/1 99 7 4 3 0.43 intronic rs737749 MEI1 AU NM_152513 exon19 c.63635-104T>C 0.841653 0.9355 Uncertain 22_42159229_G->T 22 42159229 42159229 G T snp 2572.77 0/1 99 220 107 113 0.51 exonic rs2050033 MEI1 AU synonymous SNV NM_152513 exon19 c.G2172T p.S724S 0.841254 0.9355 0.857518 0.7858 0.9411 Uncertain 22_42177453_G->C 22 42177453 42177453 G C snp 84.77 0/1 99 32 25 7 0.22 intronic rs4822050 MEI1 AU NM_152513 exon23 c.81856+55G>C 0.380192 0.0923 Uncertain 22_42177899_A->G 22 42177899 42177899 A G snp 343.77 0/1 99 28 13 15 0.54 intronic rs45500192 MEI1 AU NM_152513 exon24 c.82307+50A>G 0.158147 0.0645 0.134843 0.2147 0.0596 Uncertain 22_42190309_A->G 22 42190309 42190309 A G snp 526.77 0/1 99 34 14 20 0.59 intronic rs738247 MEI1 AU NM_152513 exon28 c.94832-65A>G 0.280551 0.2589 Uncertain 22_42191636_A->G 22 42191636 42191636 A G snp 3025.77 0/1 99 229 109 120 0.52 intronic rs139559 MEI1 AU NM_152513 exon29 c.96004+90A>G 0.360423 0.0913 Uncertain 22_42195410_T->C 22 42195410 42195410 T C snp 1121.77 0/1 99 63 19 44 0.7 UTR3 rs139561 MEI1 AU 0.159145 0.0635 Uncertain 22_42206084_G->C 22 42206084 42206084 G C snp 356.77 0/1 99 20 9 11 0.55 intronic rs4512 CCDC134 AU NM_024821 exon3 c.1110+80G>C 0.156749 0.0635 Uncertain 22_42209922_A->G 22 42209922 42209922 A G snp 335.77 0/1 99 18 8 10 0.56 intronic rs9611672 CCDC134 AU NM_024821 exon6 c.4932+96A>G 0.159145 0.0635 Uncertain 22_42221650_C->T 22 42221650 42221650 C T snp 1036.77 0/1 99 70 25 45 0.64 intronic rs41281295 CCDC134 AU NM_024821 exon7 c.16807-51C>T 0.134385 0.0645 0.095919 Uncertain 22_42221846_C->T 22 42221846 42221846 C T snp 406.77 0/1 99 32 16 16 0.5 UTR3 rs41277466 CCDC134 AU 0.134385 0.0645 0.095894 0.1458 0.0580 Uncertain 22_42229562_C->T 22 42229562 42229562 C T snp 54.74 1/1 6 2 0 2 1.0 intronic rs13057991 SREBF2 AU NM_004599 exon1 c.88+200C>T 0.286142 0.247 Uncertain 22_42276742_G->C 22 42276742 42276742 G C snp 886.77 0/1 99 69 34 35 0.51 exonic rs2228314 SREBF2 AU nonsynonymous SNV NM_004599 exon10 c.G1784C p.G595A 0.405751 0.2004 0.369291 0.3339 0.1794 0.88 T 0.0 P -0.968 T 0.0 T 0.0 T ID=CM025969;DIS=Increased plasma total cholesterol levels, association with;TAG=DFP;PUB=12119189 DFP Pathogenic 22_42301712_T->C 22 42301712 42301712 T C snp 2357.77 0/1 99 156 59 97 0.62 UTR3 rs2157590 SREBF2 AU 0.167532 0.0595 0.086883 0.2048 0.0657 Uncertain 22_42306370_GTGCGCCCAG->- 22 42306370 42306379 GTGCGCCCAG - indel 1201.73 0/1 99 15 5 10 0.67 intronic rs146103768 SHISA8 AU NM_001207020 exon2 c.643-41_643-32delGTGCGCCCAG 0.149561 0.0595 0.3134 0.0625 Uncertain 22_42322272_G->A 22 42322272 42322272 G A snp 309.77 0/1 99 24 9 15 0.63 exonic TNFRSF13C AR nonsynonymous SNV NM_052945 exon2 c.C200T p.A67V 0.48 T 1 N -1.050 T 0.131 T 0.024 T Pathogenic 22_42334953_C->G 22 42334953 42334953 C G snp 243.77 0/1 99 29 19 10 0.34 UTR3 rs1047997 CENPM AU 0.29992 0.124 Uncertain 22_42336237_A->G 22 42336237 42336237 A G snp 1760.77 0/1 99 143 71 72 0.5 intronic rs73165147 CENPM AU NM_001110215 exon2 c.1164+14A>G 0.139377 0.0605 0.089794 Uncertain 22_42339516_A->G 22 42339516 42339516 A G snp 96.77 0/1 99 16 10 6 0.38 intronic rs3752591 CENPM AU NM_001304370 exon2 c.4554-97A>G 0.267372 0.123 Uncertain 22_42341308_A->G 22 42341308 42341308 A G snp 2081.77 0/1 99 189 100 89 0.47 exonic rs7293091 CENPM AU nonsynonymous SNV NM_001304372 exon3 c.T214C p.S72P 0.295927 0.123 0.265032 0.2556 0.1033 0.01 T 0.001 P -0.954 T Pathogenic 22_42343091_G->A 22 42343091 42343091 G A snp 1566.77 0/1 99 175 104 71 0.41 UTR5 rs6002555 CENPM AU 0.450479 0.126 0.420769 0.3167 0.1098 Uncertain 22_42354389_A->C 22 42354389 42354389 A C snp 1651.77 0/1 99 137 63 74 0.54 ncRNA_exonic rs62240996 LINC00634 AU 0.436502 0.0595 0.3808 0.0446 Uncertain 22_42388826_A->G 22 42388826 42388826 A G snp 1183.77 0/1 99 94 43 51 0.54 intronic rs56234624 SEPT3 AU NM_019106 exon8 c.15699+59A>G 0.261581 0.0585 Uncertain 22_42388841_G->A 22 42388841 42388841 G A snp 2380.77 1/1 99 86 0 86 1.0 intronic rs133299 SEPT3 AU NM_019106 exon8 c.15699+74G>A 0.805711 0.9216 Uncertain 22_42390093_C->T 22 42390093 42390093 C T snp 647.77 0/1 99 33 12 21 0.64 intronic rs133301 SEPT3 AU NM_019106 exon9 c.17225-200C>T 0.483027 0.8631 Uncertain 22_42390209_G->A 22 42390209 42390209 G A snp 2253.77 0/1 99 220 125 95 0.43 intronic rs7290907 SEPT3 AU NM_019106 exon9 c.17225-84G>A 0.261182 0.0585 Uncertain 22_42390225_C->G 22 42390225 42390225 C G snp 2461.77 0/1 99 234 127 107 0.46 intronic rs7290655 SEPT3 AU NM_019106 exon9 c.17225-68C>G 0.260982 0.0585 0.318441 Uncertain 22_42390888_TG->- 22 42390888 42390889 TG - indel 703.73 ./1 99 54 0 54 1.0 UTR3 rs372946947 SEPT3 AU Uncertain 22_42390887_-->TGTG 22 42390887 42390887 - TGTG indel 703.73 ./1 99 54 0 54 1.0 UTR3 rs746335648 SEPT3 AU Uncertain 22_42392811_G->A 22 42392811 42392811 G A snp 1767.77 0/1 99 150 75 75 0.5 UTR3 rs1062753 SEPT3 AU 0.259984 0.0585 Uncertain 22_42416056_A->G 22 42416056 42416056 A G snp 1633.77 0/1 99 169 94 75 0.44 exonic rs133335 WBP2NL AU nonsynonymous SNV NM_152613 exon4 c.A362G p.D121G 0.546126 0.8641 0.469783 0.4998 0.8569 1 T 0.002 P -1.000 T 0.0 T 0.0 T Pathogenic 22_42418185_T->C 22 42418185 42418185 T C snp 1638.77 1/1 99 48 0 48 1.0 intronic rs133341 WBP2NL AU NM_152613 exon5 c.23430-67T>C 0.808506 0.9206 Uncertain 22_42423110_G->C 22 42423110 42423110 G C snp 1651.77 0/1 99 131 64 67 0.51 exonic rs2301521 WBP2NL AU nonsynonymous SNV NM_152613 exon6 c.G855C p.Q285H 0.777756 0.8542 0.748270 0.7059 0.8552 0.61 T 0.0 P -1.048 T 0.0 T 0.0 T Pathogenic 22_42428727_A->T 22 42428727 42428727 A T snp 698.77 0/1 99 93 57 36 0.39 intergenic rs133349 WBP2NL AU 0.455072 0.8522 0.4865 0.8450 0.000 P -1.028 T Uncertain 22_42463366_C->T 22 42463366 42463366 C T snp 1461.77 0/1 99 115 58 57 0.5 intronic rs133367 NAGA AR NM_000262 exon6 c.7012+72C>T 0.471446 0.2966 Uncertain 22_42463689_T->C 22 42463689 42463689 T C snp 247.77 0/1 99 20 12 8 0.4 intronic rs133368 NAGA AR NM_000262 exon7 c.7486-79T>C 0.644369 0.8522 Uncertain 22_42463814_C->T 22 42463814 42463814 C T snp 1921.77 0/1 99 159 73 86 0.54 exonic rs133369 NAGA AR synonymous SNV NM_000262 exon3 c.G279A p.P93P 0.676917 0.8532 0.642550 0.6728 0.8523 Uncertain 22_42473603_C->T 22 42473603 42473603 C T snp 3544.77 0/1 99 250 105 145 0.58 exonic rs133383 FAM109B AU synonymous SNV NM_001002034 exon3 c.C306T p.A102A 0.327476 0.2917 0.331309 0.4372 0.3194 Uncertain 22_42474138_C->G 22 42474138 42474138 C G snp 447.77 0/1 99 49 28 21 0.43 UTR3 FAM109B AU 0.356829 0.1488 Uncertain 22_42475703_T->G 22 42475703 42475703 T G snp 440.77 0/1 99 22 8 14 0.64 UTR5 SMDT1 AU 0.324281 0.1478 Uncertain 22_42486723_G->A 22 42486723 42486723 G A snp 2843.77 0/1 99 249 138 111 0.45 exonic NDUFA6 AU nonsynonymous SNV NM_002490 exon1 c.C104T p.A35V 0.353834 0.1508 0.389282 0.3372 0.1489 0.1 T 0.984 P -0.929 T 0.024 T 0.005 T Pathogenic 22_42522613_G->C 22 42522613 42522613 G C snp 584.77 0/1 99 40 16 24 0.6 exonic rs1135840 CYP2D6 AR nonsynonymous SNV NM_000106 exon9 c.C1457G p.T486S 0.401158 0.2956 0.408320 0.4556 0.2987 0.77 T 0.0 P -0.989 T 0.02 T 0.023 T CLINSIG=drug-response;CLNDBN=Debrisoquine\x2c_ultrarapid_metabolism_of;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000018391.27;CLNDSDB=MedGen;CLNDSDBID=C1837157 ID=CM931123;DIS=Poor metaboliser;TAG=FP;PUB=8287064 FP Pathogenic 22_42523003_A->G 22 42523003 42523003 A G snp 97.77 0/1 99 45 26 19 0.42 ncRNA_intronic LOC101929829 AU 0.0598 0.2096 Uncertain 22_42523309_C->T 22 42523309 42523309 C T snp 102.77 0/1 99 12 7 5 0.42 ncRNA_intronic LOC101929829 AU Uncertain 22_42523315_T->C 22 42523315 42523315 T C snp 104.77 0/1 99 15 9 6 0.4 ncRNA_intronic LOC101929829 AU Uncertain 22_42523409_G->T 22 42523409 42523409 G T snp 981.77 0/1 99 93 55 38 0.41 ncRNA_intronic LOC101929829 AU 0.3403 0.2329 Uncertain 22_42523505_C->T 22 42523505 42523505 C T snp 150.77 0/1 99 191 170 21 0.11 exonic CYP2D6 AR nonsynonymous SNV NM_000106 exon7 c.G1117A p.G373S 0.0171 0.0105 0.14 T 1 N -0.987 T 0.009 T 0.094 T Pathogenic 22_42523514_C->T 22 42523514 42523514 C T snp 164.77 0/1 99 191 171 20 0.1 exonic CYP2D6 AR nonsynonymous SNV NM_000106 exon7 c.G1108A p.V370I 0.0139 0.0087 0.57 T 1 N -0.993 T 0.003 T 0.013 T Pathogenic 22_42523805_C->T 22 42523805 42523805 C T snp 1489.77 0/1 99 128 66 62 0.48 ncRNA_intronic rs28371725 LOC101929829 AU 0.0634984 0.0377 0.077581 0.0808 0.0302 ID=CS045903;DIS=Intermediate metaboliser;TAG=FP;PUB=15289790 FP Uncertain 22_42523943_A->G 22 42523943 42523943 A G snp 1342.77 0/1 99 126 72 54 0.43 exonic rs16947 CYP2D6 AR nonsynonymous SNV NM_000106 exon6 c.T886C p.C296R 0.640775 0.8601 0.599553 0.6567 0.8515 0.0 P -0.980 T 0.0 T 0.001 T CLINSIG=drug-response;CLNDBN=Debrisoquine\x2c_ultrarapid_metabolism_of;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000018391.27;CLNDSDB=MedGen;CLNDSDBID=C1837157 ID=CM930187;DIS=Parkinson disease, association with;TAG=DFP;PUB=7903297 DFP Pathogenic 22_42524130_C->T 22 42524130 42524130 C T snp 673.77 0/1 99 57 29 28 0.49 ncRNA_intronic LOC101929829 AU 0.00599042 0.0268 0.000232 0.0038 0.0328 Uncertain 22_42524713_C->G 22 42524713 42524713 C G snp 64.77 0/1 93 18 13 5 0.28 ncRNA_intronic LOC101929829 AU Uncertain 22_42524743_G->A 22 42524743 42524743 G A snp 100.77 0/1 99 23 17 6 0.26 ncRNA_intronic LOC101929829 AU 0.3314 0.1982 Uncertain 22_42524795_A->G 22 42524795 42524795 A G snp 139.77 0/1 99 47 38 9 0.19 exonic CYP2D6 AR synonymous SNV NM_000106 exon4 c.T657C p.F219F 0.3434 0.2156 Uncertain 22_42525132_G->C 22 42525132 42525132 G C snp 2175.77 0/1 99 183 85 98 0.54 exonic CYP2D6 AR synonymous SNV NM_000106 exon3 c.C408G p.V136V 0.400958 0.2907 0.392880 0.4515 0.2871 Uncertain 22_42525952_C->A 22 42525952 42525952 C A snp 270.77 0/1 99 54 15 39 0.72 ncRNA_intronic LOC101929829 AU 0.370008 0.2748 0.4740 0.2681 Uncertain 22_42526484_A->C 22 42526484 42526484 A C snp 80.77 0/1 99 12 8 4 0.33 ncRNA_intronic LOC101929829 AU 0.368411 0.2857 Uncertain 22_42526549_C->T 22 42526549 42526549 C T snp 467.77 0/1 99 54 32 22 0.41 ncRNA_intronic LOC101929829 AU 0.692692 0.8571 Uncertain 22_42526561_G->T 22 42526561 42526561 G T snp 529.77 0/1 99 61 38 23 0.38 ncRNA_intronic LOC101929829 AU 0.692891 0.8571 Uncertain 22_42526562_G->C 22 42526562 42526562 G C snp 569.77 0/1 99 61 38 23 0.38 ncRNA_intronic LOC101929829 AU 0.692891 0.8571 Uncertain 22_42526567_G->A 22 42526567 42526567 G A snp 566.77 0/1 99 64 41 23 0.36 ncRNA_intronic LOC101929829 AU 0.692692 0.8571 0.072563 0.6493 0.8491 Uncertain 22_42526571_C->G 22 42526571 42526571 C G snp 556.77 0/1 99 68 45 23 0.34 ncRNA_intronic LOC101929829 AU 0.692891 0.8571 0.057138 0.6540 0.8490 Uncertain 22_42526573_T->G 22 42526573 42526573 T G snp 563.77 0/1 99 68 45 23 0.34 ncRNA_intronic LOC101929829 AU 0.692891 0.8571 0.616690 0.6566 0.8483 Uncertain 22_42526580_G->C 22 42526580 42526580 G C snp 724.77 0/1 99 77 45 32 0.42 ncRNA_intronic LOC101929829 AU 0.692891 0.8571 0.6719 0.8517 Uncertain 22_42537023_T->C 22 42537023 42537023 T C snp 293.77 0/1 99 15 5 10 0.67 ncRNA_intronic rs2860372 CYP2D7 AU 0.531949 0.6607 Uncertain 22_42537127_A->G 22 42537127 42537127 A G snp 124.77 0/1 99 51 36 15 0.29 ncRNA_intronic rs3020736 CYP2D7 AU 0.604233 0.8234 0.0028 0 Uncertain 22_42537196_T->C 22 42537196 42537196 T C snp 900.77 0/1 99 111 65 46 0.41 ncRNA_exonic rs56404506 CYP2D7 AU 0.723442 0.8492 0.5977 0.7143 1 T 0.0 P -0.932 T 0.0 T 0.0 T Uncertain 22_42537271_T->C 22 42537271 42537271 T C snp 1118.77 0/1 99 124 71 53 0.43 ncRNA_exonic rs2743458 CYP2D7 AU 0.261981 0.2669 0.3516 0.3974 0 D 0.001 P -0.743 T 1.0 D 0.992 D Uncertain 22_42537280_T->C 22 42537280 42537280 T C snp 1446.77 0/1 99 114 50 64 0.56 ncRNA_exonic rs28367005 CYP2D7 AU 0.0658946 0.0188 0.0984 0.0096 0.89 T 0.0 P -1.010 T 0.0 T 0.0 T Uncertain 22_42537404_G->C 22 42537404 42537404 G C snp 1908.77 1/1 99 67 0 67 1.0 ncRNA_intronic rs2854741 CYP2D7 AU 0.827676 0.8839 0.7964 0.8822 Uncertain 22_42537597_A->G 22 42537597 42537597 A G snp 974.77 0/1 99 68 31 37 0.54 ncRNA_exonic rs1800754 CYP2D7 AU 0.496206 0.3036 0.4921 0.3249 1 T 1.000 P -0.928 T 0.0 T 0.0 T Uncertain 22_42538029_A->G 22 42538029 42538029 A G snp 1621.77 0/1 99 188 112 76 0.4 ncRNA_exonic rs1058167 CYP2D7 AU 0.553315 0.8482 0.6363 0.8489 0.003 P -1.000 T 0.995 D 0.967 D Uncertain 22_42538103_T->C 22 42538103 42538103 T C snp 1096.77 0/1 99 93 52 41 0.44 ncRNA_intronic rs3021083 CYP2D7 AU 0.401757 0.3065 0.4224 0.3026 Uncertain 22_42538508_A->G 22 42538508 42538508 A G snp 406.77 0/1 72 28 10 18 0.64 ncRNA_exonic rs3021082 CYP2D7 AU 0.38778 0.5694 0.4500 0.6635 0 D 0.000 P -0.905 T 0.982 D 0.958 D Uncertain 22_42538509_G->A 22 42538509 42538509 G A snp 408.77 0/1 72 28 10 18 0.64 ncRNA_exonic rs56023519 CYP2D7 AU 0.389377 0.5694 0.4495 0.6626 0 D 0.000 P -0.940 T Uncertain 22_42538514_-->C 22 42538514 42538514 - C indel 628.73 0/1 97 22 4 18 0.82 ncRNA_exonic rs149012039 CYP2D7 AU 0.389377 0.5714 0.4477 0.6645 Uncertain 22_42538618_A->G 22 42538618 42538618 A G snp 534.77 0/1 99 80 50 30 0.38 ncRNA_exonic rs2267448 CYP2D7 AU 0.401358 0.3026 0.4058 0.3092 0 D 0.000 P -0.971 T Uncertain 22_42538669_C->T 22 42538669 42538669 C T snp 491.77 0/1 99 64 36 28 0.44 ncRNA_intronic rs2856955 CYP2D7 AU 0.282947 0.2629 0.3678 0.3282 0.0 P -0.912 T Uncertain 22_42538704_G->T 22 42538704 42538704 G T snp 789.77 0/1 99 61 29 32 0.52 ncRNA_intronic rs2743459 CYP2D7 AU 0.357827 0.3016 0.4993 0.4093 Uncertain 22_42538876_A->T 22 42538876 42538876 A T snp 5019.77 1/1 99 183 0 183 1.0 ncRNA_exonic rs3020732 CYP2D7 AU 0.985423 0.9881 0.9702 0.9815 1 T 0.0 P -0.988 T 0.0 T 0.0 T Uncertain 22_42538897_A->G 22 42538897 42538897 A G snp 2262.77 0/1 99 172 82 90 0.52 ncRNA_intronic rs2854740 CYP2D7 AU 0.372804 0.3056 0.4753 0.3626 Uncertain 22_42539623_C->A 22 42539623 42539623 C A snp 87.77 0/1 30 22 8 14 0.64 ncRNA_intronic rs769261 CYP2D7 AU 0.375998 0.2976 0.4574 0.3381 Uncertain 22_42540551_A->G 22 42540551 42540551 A G snp 295.77 0/1 99 18 8 10 0.56 ncRNA_exonic rs2743461 CYP2D7 AU 0.375599 0.2956 Uncertain 22_42610099_T->C 22 42610099 42610099 T C snp 3277.77 0/1 99 250 118 132 0.53 exonic TCF20 AU nonsynonymous SNV NM_005650 exon1 c.A1213G p.M405V 0.0860623 0.0308 0.107258 0.0796 0.0259 1 T 1.000 P -1.028 T 0.0 T 0.0 T Pathogenic 22_42781071_G->A 22 42781071 42781071 G A snp 35.77 0/1 64 9 7 2 0.22 UTR3 rs12484478 NFAM1 AU 0.161542 0.2272 Uncertain 22_42896474_T->C 22 42896474 42896474 T C snp 216.84 1/1 18 7 0 7 1.0 upstream rs2413692 SERHL AU 0.432907 0.8194 Uncertain 22_42896554_GGGGC->- 22 42896554 42896558 GGGGC - indel 4550.73 1/1 99 65 0 65 1.0 upstream rs71311440 SERHL AU 0.627995 0.873 Uncertain 22_42904939_C->T 22 42904939 42904939 C T snp 367.77 0/1 99 21 10 11 0.52 ncRNA_intronic rs114162817 SERHL AU 0.296126 0.7321 Uncertain 22_42905177_T->C 22 42905177 42905177 T C snp 4170.77 1/1 99 160 0 160 1.0 ncRNA_intronic rs1056566 SERHL AU 0.521166 0.874 Uncertain 22_42908289_C->T 22 42908289 42908289 C T snp 1441.77 0/1 99 97 34 63 0.65 ncRNA_exonic rs5758776 SERHL AU 0.232029 0.7312 Uncertain 22_42911257_A->G 22 42911257 42911257 A G snp 344.77 1/1 30 18 0 18 1.0 exonic rs1137212 RRP7A AU synonymous SNV NM_015703 exon4 c.T360C p.Y120Y 0.0440 0.1248 Uncertain 22_42912029_G->T 22 42912029 42912029 G T snp 898.77 0/1 99 169 126 43 0.25 exonic rs3201001 RRP7A AU synonymous SNV NM_015703 exon3 c.C330A p.P110P 0.234625 0.1468 0.261418 0.2179 0.1225 Uncertain 22_42912106_C->T 22 42912106 42912106 C T snp 3618.77 0/1 99 250 91 159 0.64 exonic rs1812240 RRP7A AU nonsynonymous SNV NM_015703 exon3 c.G253A p.V85I 0.250998 0.745 0.069814 0.1315 0.7767 0.33 T 0.040 P -0.993 T 0.225 T 0.016 T Pathogenic 22_42912342_-->T 22 42912342 42912342 - T indel 226.73 0/1 99 26 8 18 0.69 intronic rs11377171 RRP7A AU NM_015703 exon5 c.3227+200insT 0.239617 0.6518 0.3075 0.5060 Uncertain 22_42912501_A->T 22 42912501 42912501 A T snp 95.28 1/1 9 4 0 4 1.0 intronic rs5751292 RRP7A AU NM_015703 exon5 c.3227+359A>T 0.859225 0.9147 Uncertain 22_42915548_C->G 22 42915548 42915548 C G snp 181.77 0/1 99 17 10 7 0.41 intronic rs376104549 RRP7A AU NM_015703 exon7 c.6804-171C>G 0.274561 0.7371 Uncertain 22_42959360_G->A 22 42959360 42959360 G A snp 46.77 0/1 33 3 1 2 0.67 intronic rs6002795 SERHL2 AU NM_014509 exon9 c.12283-2949G>A 0.258786 0.5833 0.2521 0.6667 Uncertain 22_42962218_C->G 22 42962218 42962218 C G snp 523.77 0/1 99 48 26 22 0.46 intronic rs9623626 SERHL2 AU NM_014509 exon9 c.12283-91C>G 0.260583 0.5833 Uncertain 22_42967235_C->T 22 42967235 42967235 C T snp 896.77 0/1 99 118 63 55 0.47 intronic rs137046 SERHL2 AU NM_014509 exon10 c.17183+26C>T 0.589257 0.7659 0.447615 0.3839 0.5972 Uncertain 22_42967241_G->C 22 42967241 42967241 G C snp 955.77 0/1 99 113 59 54 0.48 intronic rs9620065 SERHL2 AU NM_014509 exon10 c.17183+32G>C 0.258187 0.7083 0.005768 0.0647 0.4670 Uncertain 22_42969854_T->G 22 42969854 42969854 T G snp 205.77 0/1 99 21 12 9 0.43 ncRNA_exonic rs137053 RRP7BP AU 0.58726 0.7649 Uncertain 22_42969877_G->A 22 42969877 42969877 G A snp 232.77 0/1 99 26 14 12 0.46 ncRNA_exonic rs137054 RRP7BP AU 0.583466 0.7619 Uncertain 22_42970032_T->C 22 42970032 42970032 T C snp 845.77 0/1 99 81 44 37 0.46 exonic rs137055 SERHL2 AU nonsynonymous SNV NM_001284334 exon10 c.T724C p.C242R 0.372404 0.7093 0.217395 0.1904 0.7381 0.5 T 0.000 P -0.948 T 0.0 T 0.0 T Pathogenic 22_42971987_T->C 22 42971987 42971987 T C snp 52.77 0/1 81 26 22 4 0.15 ncRNA_exonic rs137064 RRP7BP AU 0.440695 0.6845 Uncertain 22_42972021_G->A 22 42972021 42972021 G A snp 228.77 0/1 99 35 24 11 0.31 ncRNA_exonic rs140265136 RRP7BP AU 0.251398 0.5546 Uncertain 22_42972179_C->T 22 42972179 42972179 C T snp 205.77 0/1 99 15 4 11 0.73 ncRNA_intronic rs3752507 RRP7BP AU 0.241414 0.5526 Uncertain 22_42972228_T->C 22 42972228 42972228 T C snp 83.77 0/1 33 5 2 3 0.6 ncRNA_intronic rs137065 RRP7BP AU 0.611821 0.7639 Uncertain 22_42972485_C->T 22 42972485 42972485 C T snp 151.77 0/1 99 39 26 13 0.33 ncRNA_intronic rs137068 RRP7BP AU 0.608227 0.7659 Uncertain 22_42972590_A->G 22 42972590 42972590 A G snp 700.77 0/1 99 86 47 39 0.45 ncRNA_exonic rs137071 RRP7BP AU 0.536342 0.752 Uncertain 22_42972933_C->A 22 42972933 42972933 C A snp 255.77 0/1 99 34 15 19 0.56 ncRNA_intronic rs202039572 RRP7BP AU Uncertain 22_42973206_C->T 22 42973206 42973206 C T snp 157.77 0/1 99 33 19 14 0.42 ncRNA_intronic rs566747511 RRP7BP AU 0.000399361 Uncertain 22_42976828_C->A 22 42976828 42976828 C A snp 515.77 0/1 99 52 26 26 0.5 ncRNA_intronic rs137077 RRP7BP AU 0.401358 0.6835 Uncertain 22_42981138_T->C 22 42981138 42981138 T C snp 591.77 0/1 99 41 20 21 0.51 UTR3 rs137085 POLDIP3 AU 0.545727 0.7659 Uncertain 22_42981167_G->A 22 42981167 42981167 G A snp 549.77 0/1 99 47 26 21 0.45 UTR3 rs137086 POLDIP3 AU 0.520567 0.7669 0.387177 0.4153 0.7906 Uncertain 22_42981349_C->T 22 42981349 42981349 C T snp 956.77 0/1 99 126 80 46 0.37 UTR3 rs137087 POLDIP3 AU 0.408946 0.6855 0.275062 0.3349 0.7268 Uncertain 22_42981508_A->C 22 42981508 42981508 A C snp 71.77 0/1 99 6 3 3 0.5 UTR3 rs2239811 POLDIP3 AU 0.251597 0.6865 Uncertain 22_43010601_G->C 22 43010601 43010601 G C snp 44.74 1/1 6 2 0 2 1.0 intronic rs6002815 POLDIP3 AU NM_178136 exon8 c.29008-203G>C 0.619409 0.7619 Uncertain 22_43015716_T->C 22 43015716 43015716 T C snp 71.77 0/1 99 10 6 4 0.4 UTR3 rs137124 CYB5R3 AR 0.492212 0.6855 Uncertain 22_43023527_G->A 22 43023527 43023527 G A snp 667.77 0/1 99 60 38 22 0.37 intronic rs137136 CYB5R3 AR NM_001171661 exon4 c.7832-83G>A 0.231829 0.6647 Uncertain 22_43023535_A->G 22 43023535 43023535 A G snp 735.77 0/1 99 75 47 28 0.37 intronic rs137137 CYB5R3 AR NM_001171661 exon4 c.7832-75A>G 0.234625 0.6647 Uncertain 22_43024097_C->T 22 43024097 43024097 C T snp 1552.77 0/1 99 106 49 57 0.54 intronic rs370674514 CYB5R3 AR NM_001171661 exon5 c.8379-60C>T 0.000399361 0.002 Uncertain 22_43024410_C->T 22 43024410 43024410 C T snp 381.77 1/1 30 11 0 11 1.0 intronic rs137139 CYB5R3 AR NM_001171661 exon5 c.8509+123C>T 0.735423 0.9891 Uncertain 22_43026792_A->G 22 43026792 43026792 A G snp 870.77 1/1 63 28 0 28 1.0 intronic rs5758820 CYB5R3 AR NM_001171661 exon6 c.11109-95A>G 0.652356 0.875 Uncertain 22_43027356_G->A 22 43027356 43027356 G A snp 2528.77 0/1 99 240 125 115 0.48 intronic rs743889 CYB5R3 AR NM_001171661 exon7 c.11605-27G>A 0.285343 0.2768 0.263137 0.3640 0.2609 Uncertain 22_43032870_G->T 22 43032870 43032870 G T snp 2706.77 0/1 99 239 126 113 0.47 intronic rs2285141 CYB5R3 AR NM_001171661 exon8 c.17074+18G>T 0.232827 0.5933 0.093957 0.1574 0.5909 Uncertain 22_43035928_C->G 22 43035928 43035928 C G snp 1119.77 0/1 99 75 29 46 0.61 UTR3 rs12628044 ATP5L2 AU 0.270567 0.5982 0.136881 0.1615 0.5835 Uncertain 22_43036245_G->A 22 43036245 43036245 G A snp 1061.77 0/1 99 89 41 48 0.54 exonic rs6519327 ATP5L2 AU synonymous SNV NM_001165877 exon1 c.C36T p.T12T 0.272764 0.5982 0.138195 0.2138 0.6287 Uncertain 22_43088463_G->T 22 43088463 43088463 G T snp 49.77 0/1 33 4 1 3 0.75 UTR3 rs3747193 A4GALT AU 0.219249 0.5734 Uncertain 22_43088549_C->T 22 43088549 43088549 C T snp 599.77 0/1 99 38 17 21 0.55 UTR3 rs3747194 A4GALT AU 0.221845 0.2917 Uncertain 22_43088668_G->A 22 43088668 43088668 G A snp 1846.77 0/1 99 145 60 85 0.59 UTR3 rs56308900 A4GALT AU 0.0289537 0.1002 0.0213 0.125 0 D 1.000 N -1.030 T Uncertain 22_43089055_G->C 22 43089055 43089055 G C snp 1531.77 0/1 99 116 60 56 0.48 exonic rs6002904 A4GALT AU synonymous SNV NM_017436 exon3 c.C903G p.P301P 0.695288 0.7063 0.653261 0.6130 0.7155 Uncertain 22_43193641_G->A 22 43193641 43193641 G A snp 2412.77 0/1 99 199 92 107 0.54 intronic rs4393836 ARFGAP3 AU NM_014570 exon1 c.18+30G>A 0.30651 0.5149 0.149162 0.1727 0.5301 Uncertain 22_43195296_A->G 22 43195296 43195296 A G snp 80.77 0/1 67 5 2 3 0.6 intronic rs5758948 ARFGAP3 AU NM_014570 exon2 c.1573+130A>G 0.705671 0.6409 Uncertain 22_43206950_A->C 22 43206950 43206950 A C snp 1451.77 0/1 99 135 69 66 0.49 exonic rs1018448 ARFGAP3 AU nonsynonymous SNV NM_001142293 exon11 c.T933G p.S311R 0.701877 0.6399 0.653314 0.5996 0.6470 0.94 T 0.027 P -1.002 T 0.0 T 0.002 T Pathogenic 22_43218463_C->T 22 43218463 43218463 C T snp 2308.77 0/1 99 179 82 97 0.54 intronic rs5758957 ARFGAP3 AU NM_014570 exon8 c.24822+48C>T 0.691893 0.6369 0.641781 0.5961 0.6434 Uncertain 22_43223095_-->AT 22 43223095 43223095 - AT indel 546.73 0/1 99 21 7 14 0.67 intronic rs10654612 ARFGAP3 AU NM_014570 exon10 c.29412+90insAT 0.705272 0.6409 Uncertain 22_43243496_C->T 22 43243496 43243496 C T snp 1346.77 0/1 99 146 83 63 0.43 intronic rs767319240 ARFGAP3 AU NM_014570 exon15 c.49926-23C>T 2.511e-05 0.0002 Uncertain 22_43275250_G->A 22 43275250 43275250 G A snp 988.77 0/1 99 116 76 40 0.34 intronic rs2073199 PACSIN2 AU NM_001184970 exon4 c.7813+75G>A 0.702875 0.6349 Uncertain 22_43278148_C->T 22 43278148 43278148 C T snp 830.77 0/1 99 80 47 33 0.41 intronic rs5759010 PACSIN2 AU NM_001184970 exon5 c.10827-41C>T 0.305112 0.5437 0.130567 0.1705 0.5533 Uncertain 22_43280650_T->C 22 43280650 43280650 T C snp 182.77 0/1 99 18 11 7 0.39 intronic rs2273143 PACSIN2 AU NM_001184970 exon6 c.13205+83T>C 0.70627 0.6458 Uncertain 22_43289738_C->T 22 43289738 43289738 C T snp 1188.77 0/1 99 101 49 52 0.51 intronic rs2076158 PACSIN2 AU NM_001184970 exon9 c.22257+119C>T 0.31849 0.5437 Uncertain 22_43435668_G->A 22 43435668 43435668 G A snp 106.77 0/1 99 16 10 6 0.38 ncRNA_exonic rs2072883 LOC100506679 AU 0.764577 0.8343 Uncertain 22_43435812_C->T 22 43435812 43435812 C T snp 764.77 0/1 99 79 45 34 0.43 exonic rs1052163 TTLL1 AU synonymous SNV NM_012263 exon11 c.G1242A p.S414S 0.485623 0.8333 0.278102 0.2977 0.8431 Uncertain 22_43442599_T->C 22 43442599 43442599 T C snp 995.77 0/1 99 67 30 37 0.55 ncRNA_intronic rs5759111 LOC100506679 AU 0.686901 0.8343 0.592573 0.5713 0.8471 Uncertain 22_43455432_G->A 22 43455432 43455432 G A snp 1328.77 0/1 99 96 38 58 0.6 exonic rs5759125 TTLL1 AU synonymous SNV NM_012263 exon8 c.C849T p.D283D 0.398962 0.7173 0.216208 0.2192 0.7220 1.000 P -0.958 T Likely benign 22_43455665_A->G 22 43455665 43455665 A G snp 285.77 0/1 99 25 14 11 0.44 intronic rs5759126 TTLL1 AU NM_012263 exon4 c.19752+132A>G 0.770367 0.8105 Uncertain 22_43464238_G->A 22 43464238 43464238 G A snp 88.77 0/1 30 5 1 4 0.8 intronic rs12168642 TTLL1 AU NM_012263 exon7 c.28634-177G>A 0.376398 0.7173 Uncertain 22_43465529_C->T 22 43465529 43465529 C T snp 410.77 0/1 99 35 19 16 0.46 intronic rs2076154 TTLL1 AU NM_012263 exon8 c.29860-112C>T 0.374401 0.7163 Uncertain 22_43466217_A->G 22 43466217 43466217 A G snp 756.77 0/1 99 111 75 36 0.32 intronic rs2076156 TTLL1 AU NM_012263 exon8 c.30069+367A>G 0.213059 0.3968 0.1361 0.4362 0 D 0.0 P -0.952 T Uncertain 22_43466247_G->C 22 43466247 43466247 G C snp 634.77 0/1 99 101 70 31 0.31 intronic rs2076161 TTLL1 AU NM_012263 exon8 c.30069+397G>C 0.477436 0.8125 0.2748 0.8264 0.12 T 0.0 P -0.991 T Uncertain 22_43471386_G->C 22 43471386 43471386 G C snp 258.77 0/1 99 19 10 9 0.47 intronic rs2294413 TTLL1 AU NM_012263 exon9 c.35698-93G>C 0.546526 0.8105 Uncertain 22_43520258_A->C 22 43520258 43520258 A C snp 546.77 1/1 42 15 0 15 1.0 intronic rs4988417 BIK AU NM_001197 exon2 c.161+69A>C 0.871805 0.9474 Uncertain 22_43523921_-->CT 22 43523921 43523921 - CT indel 621.73 1/1 39 14 0 14 1.0 intronic rs397823086 BIK AU NM_001197 exon3 c.3773+120insCT 0.869409 0.9474 Uncertain 22_43529020_G->T 22 43529020 43529020 G T snp 463.77 0/1 99 40 25 15 0.38 UTR3 rs146686454 MCAT AU 0.0111821 0.0516 0.0036 0.0470 Uncertain 22_43538806_A->C 22 43538806 43538806 A C snp 462.77 1/1 36 13 0 13 1.0 intronic rs5759181 MCAT AU NM_014507 exon3 c.9471-125A>C 0.469249 0.9325 Uncertain 22_43555194_C->G 22 43555194 43555194 C G snp 2864.77 1/1 99 103 0 103 1.0 intronic rs3937387 TSPO AU 0.675919 0.996 0.572668 0.6616 0.9987 Uncertain 22_43558926_A->G 22 43558926 43558926 A G snp 2873.77 1/1 99 105 0 105 1.0 exonic rs6971 TSPO AU nonsynonymous SNV NM_000714 exon4 c.A439G p.T147A 0.828275 0.9534 0.726356 0.7763 0.9758 0 D 0.007 P -0.973 T 0.0 T 0.0 T ID=CM099899;DIS=Increased pregnenolone levels;TAG=DFP;PUB=19846611 DFP Pathogenic 22_43558972_G->A 22 43558972 43558972 G A snp 1085.77 0/1 99 129 77 52 0.4 exonic rs6972 TSPO AU nonsynonymous SNV NM_000714 exon4 c.G485A p.R162H 0.202676 0.2411 0.184117 0.3029 0.3182 0.18 T 0.000 P -1.008 T 0.019 T 0.004 T ID=CM060884;DIS=Panic disorder, reduced risk, association with;TAG=DP;PUB=16511838 DP Pathogenic 22_43559137_G->T 22 43559137 43559137 G T snp 792.77 0/1 99 64 31 33 0.52 UTR3 rs6973 TSPO AU 0.253195 0.244 Uncertain 22_43564963_C->G 22 43564963 43564963 C G snp 826.77 1/1 60 26 0 26 1.0 intronic rs138931 TTLL12 AU NM_015140 exon2 c.905+45C>G 0.774561 0.9573 0.670826 0.7611 0.9808 Uncertain 22_43564978_C->T 22 43564978 43564978 C T snp 213.77 0/1 99 16 9 7 0.44 intronic rs9623764 TTLL12 AU NM_015140 exon2 c.905+60C>T 0.258586 0.2341 Uncertain 22_43565703_C->T 22 43565703 43565703 C T snp 1867.77 0/1 99 180 107 73 0.41 intronic rs2071727 TTLL12 AU NM_015140 exon3 c.1561+129C>T 0.151757 0.2321 0.1997 0.2965 Uncertain 22_43567789_T->C 22 43567789 43567789 T C snp 1090.77 0/1 99 90 44 46 0.51 intronic rs2071729 TTLL12 AU NM_015140 exon4 c.3811-35T>C 0.240016 0.6696 0.030909 0.1464 0.6983 Uncertain 22_43568512_C->T 22 43568512 43568512 C T snp 2864.77 0/1 99 250 128 122 0.49 exonic rs34074034 TTLL12 AU nonsynonymous SNV NM_015140 exon10 c.G1390A p.V464M 0.202476 0.2351 0.186683 0.2297 0.2230 0 D 1.000 P -1.153 T 0.999 D 0.986 D Pathogenic 22_43570068_G->A 22 43570068 43570068 G A snp 489.77 0/1 99 38 20 18 0.47 intronic rs762953 TTLL12 AU NM_015140 exon7 c.6201-146G>A 0.398163 0.252 Uncertain 22_43570463_A->G 22 43570463 43570463 A G snp 1063.77 0/1 99 122 74 48 0.39 intronic rs2269525 TTLL12 AU NM_015140 exon8 c.6491-41A>G 0.348243 0.2907 0.320775 0.2795 0.2882 Uncertain 22_43570659_A->C 22 43570659 43570659 A C snp 305.77 0/1 99 43 29 14 0.33 intronic rs2269526 TTLL12 AU NM_015140 exon8 c.6608+38A>C 0.396366 0.2917 0.378441 0.2963 0.2854 Uncertain 22_43572309_G->- 22 43572309 43572309 G - indel 903.73 0/1 99 62 27 35 0.56 intronic rs11315075 TTLL12 AU NM_015140 exon9 c.8312-16delG 0.133986 0.1756 0.135430 0.1506 0.2801 Uncertain 22_43606143_C->T 22 43606143 43606143 C T snp 6688.77 1/1 99 249 0 249 1.0 exonic rs5759217 SCUBE1 AU synonymous SNV NM_173050 exon19 c.G2487A p.A829A 0.696486 0.9286 0.627633 0.7066 0.9288 Uncertain 22_43614588_A->G 22 43614588 43614588 A G snp 201.77 0/1 63 11 4 7 0.64 intronic rs5759218 SCUBE1 AU NM_173050 exon8 c.14462+124A>G 0.429513 0.5298 Uncertain 22_43619404_C->G 22 43619404 43619404 C G snp 37.77 0/1 66 4 2 2 0.5 intronic rs6003115 SCUBE1 AU NM_173050 exon12 c.19220+182C>G 0.51258 0.4425 Uncertain 22_43623353_G->A 22 43623353 43623353 G A snp 768.77 0/1 99 73 43 30 0.41 intronic rs129414 SCUBE1 AU NM_173050 exon13 c.23377-26G>A 0.351038 0.124 0.466005 0.4758 0.1399 Uncertain 22_43623395_C->G 22 43623395 43623395 C G snp 956.77 0/1 99 108 63 45 0.42 exonic rs129415 SCUBE1 AU nonsynonymous SNV NM_173050 exon10 c.G1192C p.G398R 0.736621 0.5377 0.771916 0.7134 0.5033 0.67 T 1.000 P -0.978 T 0.0 T 0.009 T Pathogenic 22_43634750_T->C 22 43634750 43634750 T C snp 1250.77 0/1 99 89 42 47 0.53 intronic rs57531768 SCUBE1 AU NM_173050 exon16 c.34841-93T>C 0.188498 0.0486 0.1162 0.0710 0.02 T 0.0 P -1.067 T 0.0 T 0.0 T Uncertain 22_43651421_G->A 22 43651421 43651421 G A snp 883.77 1/1 66 26 0 26 1.0 intronic rs139029 SCUBE1 AU NM_173050 exon17 c.54222-2803G>A 0.514177 0.5754 Uncertain 22_43654466_G->A 22 43654466 43654466 G A snp 707.77 0/1 99 51 24 27 0.53 intronic rs733181 SCUBE1 AU NM_173050 exon17 c.54339+125G>A 0.204673 0.3948 Uncertain 22_43654477_C->T 22 43654477 43654477 C T snp 436.77 0/1 99 37 21 16 0.43 intronic rs9623792 SCUBE1 AU NM_173050 exon17 c.54339+136C>T 0.123003 0.0595 Uncertain 22_43687305_C->A 22 43687305 43687305 C A snp 197.77 0/1 99 23 15 8 0.35 intronic rs5751472 SCUBE1 AU NM_173050 exon19 c.87184+119C>A 0.222244 0.4921 Uncertain 22_43687306_C->G 22 43687306 43687306 C G snp 203.77 0/1 99 22 15 7 0.32 intronic rs5751473 SCUBE1 AU NM_173050 exon19 c.87184+120C>G 0.222244 0.4921 Uncertain 22_43814244_C->T 22 43814244 43814244 C T snp 1322.77 1/1 96 49 0 49 1.0 intronic rs5759334 MPPED1 AU 0.312101 0.6349 Uncertain 22_43893952_A->G 22 43893952 43893952 A G snp 657.77 1/1 51 17 0 17 1.0 intronic rs149669758 MPPED1 AU NM_001044370 exon5 c.73123-162A>G 0.680511 0.6746 Uncertain 22_43936117_C->T 22 43936117 43936117 C T snp 2290.77 0/1 99 200 106 94 0.47 exonic rs61995891 EFCAB6 AU nonsynonymous SNV NM_198856 exon26 c.G3313A p.V1105M 0.0127796 0.0427 0.000384 0.0079 0.0467 0.11 T 1 N -1.045 T 0.013 T 0.006 T Pathogenic 22_43976396_G->A 22 43976396 43976396 G A snp 3464.77 1/1 99 129 0 129 1.0 exonic rs9614382 EFCAB6 AU nonsynonymous SNV NM_198856 exon23 c.C2720T p.A907V 0.744209 0.756 0.739659 0.7424 0.7721 0.92 T 0.0 P -1.002 T 0.001 T 0.005 T Pathogenic 22_43976675_G->A 22 43976675 43976675 G A snp 463.77 1/1 36 12 0 12 1.0 intronic rs4823114 EFCAB6 AU NM_022785 exon8 c.51807+136G>A 0.736821 0.756 Uncertain 22_43996288_A->C 22 43996288 43996288 A C snp 258.8 1/1 21 7 0 7 1.0 intronic rs3747202 EFCAB6 AU NM_022785 exon10 c.71411+145A>C 0.51897 0.5893 Uncertain 22_44022171_G->A 22 44022171 44022171 G A snp 304.78 1/1 24 8 0 8 1.0 intronic rs137722 EFCAB6 AU NM_022785 exon13 c.97594-155G>A 0.744609 0.9573 Uncertain 22_44112845_C->T 22 44112845 44112845 C T snp 1814.77 1/1 99 65 0 65 1.0 exonic rs5764234 EFCAB6 AU synonymous SNV NM_198856 exon7 c.G309A p.S103S 0.798522 0.8581 0.778837 0.7804 0.8798 Uncertain 22_44177972_A->G 22 44177972 44177972 A G snp 628.77 1/1 48 17 0 17 1.0 intronic rs1894631 EFCAB6 AU NM_022785 exon30 c.253327-87A>G Uncertain 22_44229492_G->C 22 44229492 44229492 G C snp 2306.77 1/1 99 87 0 87 1.0 intronic rs138069 SULT4A1 AU NM_014351 exon3 c.7639-27G>C 0.933906 0.9891 0.873730 0.8993 0.9928 Uncertain 22_44258036_G->C 22 44258036 44258036 G C snp 1231.77 1/1 90 39 1 38 0.97 intronic rs2269601 SULT4A1 AU NM_014351 exon7 c.36213-57G>C 0.259585 0.4702 Uncertain 22_44258339_-->CCCGCA 22 44258339 44258339 - CCCGCA indel 1447.73 1/1 51 19 0 19 1.0 UTR5 SULT4A1 AU Uncertain 22_44277406_C->T 22 44277406 44277406 C T snp 1454.77 1/1 99 51 0 51 1.0 intronic rs55905376 PNPLA5 AU NM_001177675 exon2 c.763-31C>T 0.287939 0.4683 0.197588 0.2843 0.5239 Uncertain 22_44280412_G->T 22 44280412 44280412 G T snp 616.77 1/1 48 16 0 16 1.0 intronic rs5764011 PNPLA5 AU NM_001177675 exon3 c.3551+187G>T 0.589457 0.9157 Uncertain 22_44282276_A->G 22 44282276 44282276 A G snp 5927.77 1/1 99 217 0 217 1.0 exonic rs739231 PNPLA5 AU nonsynonymous SNV NM_001177675 exon4 c.T514C p.W172R 0.502396 0.9048 0.337075 0.4446 0.9258 0.54 T 0.0 P -1.013 T 0.0 T 0.0 T Pathogenic 22_44282307_G->A 22 44282307 44282307 G A snp 4478.77 1/1 99 159 0 159 1.0 exonic rs739232 PNPLA5 AU synonymous SNV NM_001177675 exon4 c.C483T p.D161D 0.496406 0.9048 0.331155 0.4432 0.9260 Uncertain 22_44283440_G->A 22 44283440 44283440 G A snp 3665.77 1/1 99 136 0 136 1.0 intronic rs2071881 PNPLA5 AU NM_001177675 exon5 c.6796-30G>A 0.21905 0.4643 0.105737 0.1869 0.5156 Uncertain 22_44283556_A->G 22 44283556 44283556 A G snp 4144.77 1/1 99 150 0 150 1.0 intronic rs5764380 PNPLA5 AU NM_001177675 exon5 c.6853+29A>G 0.501997 0.9048 0.334820 0.4939 0.9229 Uncertain 22_44283676_-->AC 22 44283676 44283676 - AC indel 2638.73 1/1 99 57 0 57 1.0 intronic rs371294141 PNPLA5 AU NM_001177675 exon5 c.6853+149insAC Uncertain 22_44283678_AGGAG->- 22 44283678 44283682 AGGAG - indel 3106.73 1/1 99 37 0 37 1.0 intronic rs759250770 PNPLA5 AU NM_001177675 exon5 c.6853+151_6853+155delAGGAG Uncertain 22_44283688_GCA->- 22 44283688 44283690 GCA - indel 2270.73 1/1 99 37 0 37 1.0 intronic rs143992164 PNPLA5 AU NM_001177675 exon5 c.6853+161_6853+163delGCA 0.501797 0.9048 Uncertain 22_44285658_G->A 22 44285658 44285658 G A snp 502.77 1/1 39 17 0 17 1.0 intronic rs743934 PNPLA5 AU NM_138814 exon7 c.9004-20G>A 0.229832 0.4643 0.117177 0.1652 0.4999 Uncertain 22_44285765_A->G 22 44285765 44285765 A G snp 1746.77 1/1 99 66 0 66 1.0 intronic rs2017461 PNPLA5 AU NM_138814 exon7 c.9070+21A>G 0.61861 0.9157 0.488698 0.5711 0.9336 Uncertain 22_44285812_C->T 22 44285812 44285812 C T snp 1686.77 1/1 99 66 0 66 1.0 intronic rs743935 PNPLA5 AU NM_138814 exon7 c.9070+68C>T 0.209465 0.4633 0.091984 0.1805 0.5203 Uncertain 22_44286950_G->A 22 44286950 44286950 G A snp 4111.77 1/1 99 158 0 158 1.0 exonic rs2071883 PNPLA5 AU nonsynonymous SNV NM_138814 exon2 c.C418T p.L140F 0.240016 0.4851 0.122250 0.1918 0.5408 0.04 T 1.000 P -1.000 T 0.125 T 0.085 T Pathogenic 22_44287207_C->T 22 44287207 44287207 C T snp 2607.77 1/1 99 92 0 92 1.0 intronic rs916358 PNPLA5 AU NM_138814 exon8 c.10500+33C>T 0.239816 0.4841 0.120769 0.1716 0.5230 Uncertain 22_44323074_G->A 22 44323074 44323074 G A snp 1080.77 0/1 99 90 46 44 0.49 intronic rs139047 PNPLA3 AU NM_025225 exon2 c.3256+27G>A 0.317292 0.4147 0.356605 0.3862 0.4393 Uncertain 22_44324676_A->G 22 44324676 44324676 A G snp 3875.77 1/1 99 155 0 155 1.0 intronic rs139051 PNPLA3 AU NM_025225 exon3 c.4912-27A>G 0.516374 0.374 0.618638 0.5668 0.3683 Uncertain 22_44341986_T->C 22 44341986 44341986 T C snp 1380.77 0/1 99 95 42 53 0.56 intronic rs2294917 PNPLA3 AU NM_025225 exon9 c.22242-47T>C 0.375399 0.4325 0.328127 0.3487 0.4198 Uncertain 22_44342116_A->G 22 44342116 44342116 A G snp 2901.77 0/1 99 212 92 120 0.57 exonic rs2294918 PNPLA3 AU nonsynonymous SNV NM_025225 exon9 c.A1300G p.K434E 0.78774 0.8185 0.680378 0.6778 0.8322 0.31 T 0.0 P -0.993 T 0.0 T 0.0 T Pathogenic 22_44342325_C->T 22 44342325 44342325 C T snp 1404.77 0/1 99 112 58 54 0.48 UTR3 rs2294919 PNPLA3 AU 0.246605 0.3819 Uncertain 22_44364594_C->T 22 44364594 44364594 C T snp 1848.77 0/1 99 217 129 88 0.41 intronic rs5764434 SAMM50 AU NM_015380 exon4 c.13153-16C>T 0.72504 0.8155 0.628325 0.6259 0.8340 Uncertain 22_44364794_T->C 22 44364794 44364794 T C snp 149.77 0/1 99 11 6 5 0.45 intronic rs2273031 SAMM50 AU NM_015380 exon4 c.13241+96T>C 0.729633 0.8155 Uncertain 22_44368204_A->G 22 44368204 44368204 A G snp 806.77 0/1 99 61 25 36 0.59 exonic rs3177036 SAMM50 AU synonymous SNV NM_015380 exon5 c.A411G p.G137G 0.695487 0.8185 0.564662 0.5812 0.8351 Uncertain 22_44368741_C->T 22 44368741 44368741 C T snp 627.77 0/1 99 71 40 31 0.44 intronic rs932430 SAMM50 AU NM_015380 exon6 c.17293-9C>T 0.692093 0.8175 0.369732 0.4814 0.6394 Uncertain 22_44379822_T->C 22 44379822 44379822 T C snp 2238.77 0/1 99 247 142 105 0.43 exonic rs10452 SAMM50 AU synonymous SNV NM_015380 exon12 c.T1017C p.L339L 0.727636 0.8165 0.630863 0.6294 0.8345 Uncertain 22_44379838_A->G 22 44379838 44379838 A G snp 2345.77 0/1 99 247 145 102 0.41 exonic rs8418 SAMM50 AU nonsynonymous SNV NM_015380 exon12 c.A1033G p.I345V 0.766973 0.8194 0.676918 0.6499 0.8349 1 T 0.000 P -0.964 T 0.0 T 0.002 T Pathogenic 22_44386281_C->T 22 44386281 44386281 C T snp 2928.77 0/1 99 250 127 123 0.49 exonic rs7587 SAMM50 AU synonymous SNV NM_015380 exon14 c.C1359T p.G453G 0.222843 0.3621 0.204521 0.2162 0.3448 Uncertain 22_44420156_T->A 22 44420156 44420156 T A snp 303.78 1/1 24 9 0 9 1.0 intronic rs112388263 PARVB AU NM_001003828 exon2 c.333+24603T>A Uncertain 22_44489868_T->C 22 44489868 44489868 T C snp 3320.77 1/1 99 113 0 113 1.0 exonic rs1983609 PARVB AU nonsynonymous SNV NM_001243385 exon2 c.T62C p.V21A 0.872204 0.9593 0.824158 0.8097 0.9653 0.7 T 0.0 P -1.036 T 0.003 T 0.005 T Pathogenic 22_44489896_T->C 22 44489896 44489896 T C snp 2199.77 1/1 99 73 0 73 1.0 exonic rs738479 PARVB AU synonymous SNV NM_001243385 exon2 c.T90C p.L30L 0.645567 0.8462 0.582500 0.6185 0.8632 Uncertain 22_44489942_C->T 22 44489942 44489942 C T snp 399.77 0/1 99 37 19 18 0.49 intronic rs2076507 PARVB AU NM_013327 exon2 c.69678+45C>T 0.0559105 0.1339 0.044364 0.0621 0.1398 Uncertain 22_44559716_A->- 22 44559716 44559716 A - indel 2091.73 0/1 99 113 57 56 0.5 intronic rs56412646 PARVB AU NM_013327 exon12 c.139518-21delA 0.184505 0.4315 0.131070 0.1953 0.4314 Uncertain 22_44559995_G->A 22 44559995 44559995 G A snp 77.77 0/1 99 8 5 3 0.38 intronic rs2272940 PARVB AU NM_013327 exon12 c.139591+185G>A 0.175719 0.3998 Uncertain 22_44564297_A->C 22 44564297 44564297 A C snp 398.77 1/1 30 12 0 12 1.0 intronic rs139095 PARVB AU NM_013327 exon13 c.144262-184A>C 0.839657 0.9901 Uncertain 22_44564407_C->T 22 44564407 44564407 C T snp 509.77 0/1 99 74 49 25 0.34 intronic rs139096 PARVB AU NM_013327 exon13 c.144262-74C>T 0.22504 0.1022 Uncertain 22_44582264_G->A 22 44582264 44582264 G A snp 545.77 1/1 42 14 0 14 1.0 intronic rs6519830 PARVG AU NM_022141 exon4 c.2543+512G>A 0.245208 0.3056 Uncertain 22_44582499_T->C 22 44582499 44582499 T C snp 7518.77 1/1 99 249 0 249 1.0 intronic rs79478 PARVG AU NM_022141 exon4 c.2543+747T>C 0.816494 0.7897 0.8586 0.7683 0.57 T 0.0 P -0.979 T 0.0 T 0.0 T Uncertain 22_44584857_C->G 22 44584857 44584857 C G snp 459.77 1/1 36 15 0 15 1.0 intronic rs139137 PARVG AU NM_022141 exon6 c.5784-136C>G 0.534545 0.5903 Uncertain 22_44589857_T->G 22 44589857 44589857 T G snp 1556.77 1/1 99 45 0 45 1.0 intronic rs139142 PARVG AU NM_022141 exon9 c.10494+154T>G 0.486222 0.5565 Uncertain 22_44594476_T->C 22 44594476 44594476 T C snp 6621.77 1/1 99 234 0 234 1.0 intronic rs139151 PARVG AU NM_022141 exon12 c.15291-24T>C 0.929513 0.9821 0.949946 0.9312 0.9836 Uncertain 22_44601499_C->G 22 44601499 44601499 C G snp 4229.77 1/1 99 158 1 157 0.99 intronic rs139184 PARVG AU NM_022141 exon13 c.22427-137C>G 0.464058 0.4544 Uncertain 22_44602229_A->C 22 44602229 44602229 A C snp 6440.77 1/1 99 231 0 231 1.0 exonic rs139186 PARVG AU synonymous SNV NM_001137605 exon14 c.A919C p.R307R 0.73123 0.6518 0.826618 0.7886 0.6477 Uncertain 22_44645447_G->C 22 44645447 44645447 G C snp 737.77 0/1 99 66 33 33 0.5 UTR3 rs6006707 KIAA1644 AU 0.160942 0.2837 Uncertain 22_44681612_A->G 22 44681612 44681612 A G snp 1415.77 0/1 99 118 54 64 0.54 exonic rs135388 KIAA1644 AU synonymous SNV NM_001099294 exon4 c.T295C p.L99L 0.465056 0.3284 0.567355 0.5508 0.3279 Uncertain 22_44761631_C->T 22 44761631 44761631 C T snp 274.77 0/1 99 21 9 12 0.57 intergenic rs5765807 KIAA1644 AU 0.513778 0.4276 0.4165 0.4302 Uncertain 22_44761884_G->A 22 44761884 44761884 G A snp 1219.77 0/1 99 80 34 46 0.57 intergenic rs112900724 KIAA1644 AU 0.0599042 0.129 0.0739 0.1429 Uncertain 22_44965320_G->A 22 44965320 44965320 G A snp 1473.77 0/1 99 157 90 67 0.43 ncRNA_exonic rs138593 LINC00207 AU 0.526358 0.6002 0.570208 0.6858 0.5991 0 D 0.0 P -0.934 T 0.999 D 0.988 D Uncertain 22_44965597_G->A 22 44965597 44965597 G A snp 237.77 0/1 51 9 2 7 0.78 ncRNA_intronic rs67261307 LINC00207 AU 0.0694888 0.1409 Uncertain 22_44967767_C->G 22 44967767 44967767 C G snp 653.77 0/1 99 65 37 28 0.43 ncRNA_intronic rs138596 LINC00207 AU 0.547923 0.5476 Uncertain 22_45075738_T->C 22 45075738 45075738 T C snp 509.77 0/1 99 70 44 26 0.37 exonic rs763213 PRR5 AU nonsynonymous SNV NM_001198721 exon2 c.T59C p.M20T 0.703874 0.6161 0.701990 0.6918 0.6600 0 D 0.0 P -1.065 T 0.0 T 0.0 T Pathogenic 22_45126638_G->T 22 45126638 45126638 G T snp 220.77 0/1 99 14 7 7 0.5 intronic rs3761484 PRR5 AU NM_001198721 exon7 c.51930-971G>T 0.39976 0.4375 0.3306 0.4676 Uncertain 22_45126775_T->C 22 45126775 45126775 T C snp 3815.77 1/1 99 137 0 137 1.0 intronic rs3761485 PRR5 AU NM_001198721 exon7 c.51930-834T>C 0.641374 0.7282 0.5845 0.7181 0.0 P -0.986 T Uncertain 22_45127435_G->T 22 45127435 45127435 G T snp 40.77 0/1 33 4 1 3 0.75 intronic rs2269572 PRR5 AU NM_001198721 exon7 c.51930-174G>T 0.185104 0.256 Uncertain 22_45127739_C->T 22 45127739 45127739 C T snp 218.77 0/1 99 22 13 9 0.41 intronic rs76065533 PRR5 AU NM_001198721 exon7 c.52022+38C>T 0.0806709 0.1101 0.046469 0.0456 0.1170 Uncertain 22_45128102_-->GGTGG 22 45128102 45128102 - GGTGG indel 950.73 0/1 99 33 18 15 0.45 intronic rs771214735 PRR5 AU NM_001198721 exon8 c.52451-28insGGTGG 1.69e-05 0.0002 Uncertain 22_45128288_G->C 22 45128288 45128288 G C snp 1497.77 1/1 99 55 0 55 1.0 intronic rs5764979 PRR5 AU NM_001198721 exon8 c.52592+17G>C 0.724641 0.8849 0.528338 0.5620 0.8817 Uncertain 22_45128449_G->T 22 45128449 45128449 G T snp 109.77 0/1 60 7 2 5 0.71 intronic rs5764980 PRR5 AU NM_001198721 exon8 c.52592+178G>T 0.497804 0.7183 Uncertain 22_45133238_A->G 22 45133238 45133238 A G snp 156.78 0/1 24 6 1 5 0.83 UTR3 rs3329 PRR5 AU 0.409744 0.4395 Uncertain 22_45182207_G->A 22 45182207 45182207 G A snp 727.77 0/1 99 49 20 29 0.59 intronic rs739176 ARHGAP8 AU 0.263379 0.0655 Uncertain 22_45218223_C->T 22 45218223 45218223 C T snp 3704.77 1/1 99 135 0 135 1.0 intronic rs136662 ARHGAP8 AU NM_181335 exon6 c.35843-27C>T 0.945487 0.9087 0.964555 0.9493 0.9206 Uncertain 22_45243780_G->A 22 45243780 45243780 G A snp 3673.77 1/1 99 132 0 132 1.0 intronic rs9626578 ARHGAP8 AU NM_181335 exon9 c.61445-72G>A 0.18131 0.251 Uncertain 22_45244001_C->T 22 45244001 45244001 C T snp 2075.77 1/1 99 73 1 72 0.99 intronic rs9626251 ARHGAP8 AU NM_181335 exon9 c.61523+71C>T 0.178514 0.253 Uncertain 22_45244641_G->T 22 45244641 45244641 G T snp 300.78 1/1 24 8 0 8 1.0 intronic rs11703013 ARHGAP8 AU NM_181335 exon10 c.62404-170G>T 0.197284 0.3085 Uncertain 22_45255484_A->C 22 45255484 45255484 A C snp 119.03 1/1 12 4 0 4 1.0 intronic rs4510320 ARHGAP8 AU NM_181335 exon11 c.73203-126A>C 0.203275 0.2798 Uncertain 22_45255727_G->C 22 45255727 45255727 G C snp 2537.77 1/1 99 96 0 96 1.0 intronic rs2349855 ARHGAP8 AU NM_181335 exon11 c.73307+13G>C 0.192093 0.2639 0.195679 0.2341 0.2264 Uncertain 22_45255779_A->G 22 45255779 45255779 A G snp 1712.77 1/1 99 57 0 57 1.0 intronic rs2882262 ARHGAP8 AU NM_181335 exon11 c.73307+65A>G 0.196885 0.2817 Uncertain 22_45258495_A->G 22 45258495 45258495 A G snp 3682.77 1/1 99 131 0 131 1.0 UTR3 rs8777 ARHGAP8 AU 0.559505 0.9167 0.441694 0.5035 0.7097 Uncertain 22_45279320_A->G 22 45279320 45279320 A G snp 99.28 1/1 9 3 0 3 1.0 intronic rs3747224 PHF21B AU NM_001135862 exon1 c.219+136A>G 0.225639 0.2798 Uncertain 22_45309653_C->T 22 45309653 45309653 C T snp 229.84 1/1 18 8 0 8 1.0 intronic rs3213527 PHF21B AU NM_001135862 exon9 c.30736-48C>T 0.663738 0.8998 0.643264 0.7176 0.9130 Uncertain 22_45316507_T->A 22 45316507 45316507 T A snp 1600.77 1/1 99 56 0 56 1.0 intronic rs4823420 PHF21B AU NM_001135862 exon11 c.37405+137T>A 0.866414 0.9563 Uncertain 22_45404600_C->A 22 45404600 45404600 C A snp 342.77 0/1 99 26 11 15 0.58 intronic PHF21B AU NM_001284296 exon14 c.125709-74C>A Uncertain 22_45566702_C->T 22 45566702 45566702 C T snp 1167.77 1/1 84 41 0 41 1.0 intronic rs132873 NUP50 AU NM_007172 exon3 c.3422-778C>T 0.275359 0.5694 Uncertain 22_45566843_A->G 22 45566843 45566843 A G snp 2612.77 1/1 99 99 0 99 1.0 intronic rs132874 NUP50 AU NM_007172 exon3 c.3422-637A>G 0.275559 0.5694 0.1808 0.5886 Uncertain 22_45566912_C->A 22 45566912 45566912 C A snp 2372.77 1/1 99 86 0 86 1.0 UTR5 rs132875 NUP50 AU 0.27496 0.5685 0.1802 0.5823 Uncertain 22_45567035_C->T 22 45567035 45567035 C T snp 478.77 1/1 36 14 0 14 1.0 UTR5 rs132876 NUP50 AU 0.27516 0.5694 Uncertain 22_45567055_AT->- 22 45567055 45567056 AT - indel 298.77 1/1 21 7 0 7 1.0 UTR5 rs132877 NUP50 AU 0.27516 0.5694 Uncertain 22_45567067_T->C 22 45567067 45567067 T C snp 96.28 1/1 9 3 0 3 1.0 intronic rs132878 NUP50 AU NM_007172 exon3 c.3422-413T>C 0.161542 0.3909 Uncertain 22_45567580_C->A 22 45567580 45567580 C A snp 5220.77 1/1 99 201 0 201 1.0 intronic rs132881 NUP50 AU NM_153645 exon4 c.69+16C>A 0.275559 0.5714 0.179379 0.2118 0.5781 Uncertain 22_45577110_T->C 22 45577110 45577110 T C snp 93.28 1/1 9 3 0 3 1.0 intronic rs226523 NUP50 AU NM_153645 exon7 c.9671-56T>C 0.275759 0.5704 0.183311 Uncertain 22_45577231_T->C 22 45577231 45577231 T C snp 1404.77 1/1 99 53 0 53 1.0 exonic rs226524 NUP50 AU synonymous SNV NM_007172 exon6 c.T1068C p.D356D 0.277157 0.5704 0.181147 0.2129 0.5811 Uncertain 22_45593055_G->A 22 45593055 45593055 G A snp 2265.77 1/1 99 82 0 82 1.0 UTR3 rs3179803 KIAA0930 AU 0.0888578 0.1478 0.075760 0.1071 0.1474 Uncertain 22_45595721_A->G 22 45595721 45595721 A G snp 3057.77 1/1 99 122 2 120 0.98 intronic rs5765217 KIAA0930 AU NM_015264 exon3 c.2697-32A>G 0.724641 0.8333 0.670152 0.7090 0.8527 Uncertain 22_45601611_G->A 22 45601611 45601611 G A snp 4483.77 1/1 99 162 0 162 1.0 intronic rs5766534 KIAA0930 AU NM_015264 exon7 c.8532+23G>A 0.0908546 0.1458 0.086883 0.1162 0.1538 Uncertain 22_45603631_C->G 22 45603631 45603631 C G snp 3900.77 1/1 99 155 0 155 1.0 intronic rs5766539 KIAA0930 AU NM_015264 exon8 c.8737+1838C>G 0.0944489 0.1458 0.1103 0.1751 Uncertain 22_45608977_G->A 22 45608977 45608977 G A snp 1228.77 1/1 90 35 0 35 1.0 intronic rs13055864 KIAA0930 AU NM_015264 exon10 c.15291+630G>A 0.120208 0.2093 Uncertain 22_45622014_C->T 22 45622014 45622014 C T snp 402.77 0/1 99 26 14 12 0.46 intronic rs6007506 KIAA0930 AU NM_015264 exon10 c.15291+13667C>T 0.359026 0.3155 Uncertain 22_45622351_A->G 22 45622351 45622351 A G snp 234.84 0/1 18 8 1 7 0.88 intronic rs5766564 KIAA0930 AU NM_015264 exon10 c.15291+14004A>G 0.604034 0.7063 Uncertain 22_45684738_G->A 22 45684738 45684738 G A snp 349.78 1/1 27 9 0 9 1.0 intronic rs5765247 UPK3A AU NM_006953 exon4 c.4047-203G>A 0.210064 0.244 Uncertain 22_45685002_A->G 22 45685002 45685002 A G snp 5193.77 1/1 99 190 0 190 1.0 exonic rs1135360 UPK3A AU synonymous SNV NM_006953 exon4 c.A549G p.S183S 0.664337 0.6954 0.554436 0.5040 0.6992 Uncertain 22_45685074_C->T 22 45685074 45685074 C T snp 696.77 0/1 99 67 40 27 0.4 intronic rs139584274 UPK3A AU NM_006953 exon4 c.4130+50C>T 0.0223642 0.1071 0.000231 0.0088 0.1054 Uncertain 22_45691594_A->G 22 45691594 45691594 A G snp 1898.77 1/1 99 68 0 68 1.0 exonic rs1057356 UPK3A AU synonymous SNV NM_006953 exon6 c.A858G p.Q286Q 0.628195 0.6508 0.500231 0.4621 0.6485 Uncertain 22_45718041_A->G 22 45718041 45718041 A G snp 773.77 0/1 99 93 56 37 0.4 intronic rs1473953 FAM118A AU 0.541334 0.5218 0.4108 0.5089 Uncertain 22_45718922_-->TG 22 45718922 45718922 - TG indel 476.73 0/1 99 32 16 16 0.5 intronic rs34063912 FAM118A AU NM_017911 exon3 c.795-133insTG 0.381989 0.4058 Uncertain 22_45723696_G->C 22 45723696 45723696 G C snp 818.77 0/1 99 62 30 32 0.52 intronic rs6007591 FAM118A AU NM_017911 exon4 c.5462-26G>C 0.54393 0.5258 0.462710 0.3814 0.4943 Uncertain 22_45723807_G->C 22 45723807 45723807 G C snp 2493.77 0/1 99 240 131 109 0.45 exonic rs11556482 FAM118A AU nonsynonymous SNV NM_017911 exon4 c.G385C p.V129L 0.53734 0.5258 0.443641 0.3773 0.4920 0.31 T 0.0 P -0.976 T 0.0 T 0.0 T Pathogenic 22_45723842_G->A 22 45723842 45723842 G A snp 2324.77 0/1 99 247 142 105 0.43 exonic rs17851057 FAM118A AU synonymous SNV NM_017911 exon4 c.G420A p.R140R 0.536342 0.5268 0.442873 0.3777 0.4923 Uncertain 22_45723947_A->G 22 45723947 45723947 A G snp 462.77 0/1 99 61 41 20 0.33 splicing rs74676649 FAM118A AU NM_017911 exon4 c.5684+3A>G 0.3902 0.4568 Pathogenic 22_45723958_G->C 22 45723958 45723958 G C snp 347.77 0/1 99 52 36 16 0.31 intronic rs113718742 FAM118A AU NM_017911 exon4 c.5684+14G>C 0.0591 0.1298 Uncertain 22_45726345_A->G 22 45726345 45726345 A G snp 246.77 0/1 99 19 11 8 0.42 intronic rs7285172 FAM118A AU NM_017911 exon5 c.8223-138A>G 0.863219 0.8264 Uncertain 22_45728370_G->A 22 45728370 45728370 G A snp 880.77 0/1 99 66 33 33 0.5 exonic rs6007594 FAM118A AU nonsynonymous SNV NM_017911 exon6 c.G716A p.R239H 0.525559 0.5218 0.430955 0.3602 0.4869 0.11 T 0.995 P -1.110 T 0.999 D 0.934 D Pathogenic 22_45736153_G->A 22 45736153 45736153 G A snp 650.77 0/1 99 27 8 19 0.7 intronic rs3827393 FAM118A AU NM_017911 exon9 c.18006-113G>A 0.848842 0.8264 Uncertain 22_45736434_C->G 22 45736434 45736434 C G snp 1819.77 0/1 99 130 62 68 0.52 UTR3 rs1056322 FAM118A AU 0.547923 0.5109 Uncertain 22_45745424_T->C 22 45745424 45745424 T C snp 192.77 0/1 99 22 15 7 0.32 intronic rs4823215 SMC1B AU NM_148674 exon3 c.5172-184T>C Uncertain 22_45745429_C->A 22 45745429 45745429 C A snp 198.77 0/1 99 24 16 8 0.33 intronic rs4823216 SMC1B AU NM_148674 exon3 c.5172-179C>A Uncertain 22_45745437_A->G 22 45745437 45745437 A G snp 198.77 0/1 99 28 19 9 0.32 intronic rs4823217 SMC1B AU NM_148674 exon3 c.5172-171A>G 0.846845 0.8224 Uncertain 22_45745439_A->T 22 45745439 45745439 A T snp 221.77 0/1 99 30 20 10 0.33 intronic rs6006732 SMC1B AU NM_148674 exon3 c.5172-169A>T 0.846845 0.8224 Uncertain 22_45748284_-->T 22 45748284 45748284 - T indel 4692.73 1/1 99 113 0 113 1.0 intronic rs11375006 SMC1B AU NM_148674 exon4 c.7894-46insT 1 1 1 1 Uncertain 22_45757987_C->T 22 45757987 45757987 C T snp 266.77 0/1 99 13 4 9 0.69 intronic rs5764704 SMC1B AU NM_001291501 exon7 c.17428+123C>T 0.831669 0.8224 Uncertain 22_45767369_A->G 22 45767369 45767369 A G snp 505.77 0/1 99 53 29 24 0.45 exonic rs470062 SMC1B AU synonymous SNV NM_148674 exon14 c.T2295C p.F765F 0.166933 0.1746 0.127506 0.1575 0.2008 Uncertain 22_45767391_C->T 22 45767391 45767391 C T snp 631.77 0/1 99 48 21 27 0.56 exonic rs9614653 SMC1B AU nonsynonymous SNV NM_148674 exon14 c.G2273A p.R758Q 0.177117 0.3442 0.090029 0.1489 0.3204 0.47 T 0.000 P -1.037 T 0.57 P 0.121 P Pathogenic 22_45767455_A->G 22 45767455 45767455 A G snp 1219.77 1/1 87 44 0 44 1.0 exonic rs136569 SMC1B AU synonymous SNV NM_148674 exon14 c.T2209C p.L737L 0.71226 0.7054 0.605609 0.5694 0.7076 Uncertain 22_45767599_G->A 22 45767599 45767599 G A snp 54.74 1/1 6 3 0 3 1.0 intronic rs136570 SMC1B AU NM_001291501 exon10 c.27031+132G>A 0.711062 0.7054 Uncertain 22_45779335_A->G 22 45779335 45779335 A G snp 3335.77 1/1 99 121 1 120 0.99 intronic rs136585 SMC1B AU NM_001291501 exon12 c.38910-11A>G 0.710863 0.7014 0.604294 0.5726 0.7074 Uncertain 22_45779553_C->T 22 45779553 45779553 C T snp 787.77 0/1 99 45 19 26 0.58 intronic rs11090629 SMC1B AU NM_001291501 exon12 c.39057+60C>T 0.550519 0.5278 Uncertain 22_45782646_C->T 22 45782646 45782646 C T snp 1467.77 1/1 99 40 0 40 1.0 intronic rs136591 SMC1B AU NM_001291501 exon13 c.42310-100C>T 0.709665 0.7014 Uncertain 22_45782903_T->C 22 45782903 45782903 T C snp 1218.77 0/1 99 125 73 52 0.42 exonic rs6007010 SMC1B AU synonymous SNV NM_148674 exon11 c.A1755G p.L585L 0.566494 0.5268 0.503860 0.4201 0.5071 Uncertain 22_45785840_A->G 22 45785840 45785840 A G snp 706.77 0/1 99 38 14 24 0.63 intronic rs8138001 SMC1B AU NM_001291501 exon14 c.45341+63A>G 0.567692 0.5268 Uncertain 22_45785847_A->C 22 45785847 45785847 A C snp 393.77 0/1 99 32 19 13 0.41 intronic rs5764719 SMC1B AU NM_001291501 exon14 c.45341+70A>C 0.143371 0.1746 Uncertain 22_45789642_A->C 22 45789642 45789642 A C snp 3292.77 1/1 99 111 0 111 1.0 exonic rs136603 SMC1B AU nonsynonymous SNV NM_148674 exon9 c.T1417G p.F473V 1 1 1.0000 1 0.35 T 0.000 P -0.917 T 0.0 T 0.0 T Pathogenic 22_45789743_T->G 22 45789743 45789743 T G snp 37.77 0/1 66 6 4 2 0.33 intronic rs136604 SMC1B AU NM_001291501 exon15 c.49285+22T>G 0.154952 0.1667 0.111753 0.1917 0.2322 Uncertain 22_45794925_C->A 22 45794925 45794925 C A snp 1200.77 1/1 90 40 0 40 1.0 intronic rs79154 SMC1B AU NM_001291501 exon18 c.54538-49C>A 0.704473 0.7014 0.595881 0.5677 0.7078 Uncertain 22_45809624_C->A 22 45809624 45809624 C A snp 2343.77 1/1 99 66 0 66 1.0 UTR5 rs2272804 RIBC2 AU 0.586462 0.5387 Uncertain 22_45810049_C->T 22 45810049 45810049 C T snp 182.9 1/1 15 5 0 5 1.0 intronic rs6007026 RIBC2 AU NM_015653 exon2 c.435-153C>T 0.574081 0.5387 Uncertain 22_45810278_-->C 22 45810278 45810278 - C indel 5591.73 1/1 99 137 0 137 1.0 exonic rs397816070 RIBC2 AU unknown 0.9998 0.999 0.999033 1 1 Uncertain 22_45813434_T->- 22 45813434 45813434 T - indel 1730.73 1/1 99 48 0 48 1.0 intronic rs11320557 RIBC2 AU NM_015653 exon3 c.3714-47delT 0.734625 0.6964 0.626057 0.6198 0.7085 Uncertain 22_45813889_T->G 22 45813889 45813889 T G snp 135.03 1/1 12 4 0 4 1.0 intronic rs10775780 RIBC2 AU NM_015653 exon3 c.4059+63T>G Uncertain 22_45821887_G->A 22 45821887 45821887 G A snp 5721.77 1/1 99 225 0 225 1.0 exonic rs1022477 RIBC2 AU unknown 0.705671 0.6925 0.612717 0.5709 0.7040 Uncertain 22_45821909_C->T 22 45821909 45821909 C T snp 2390.77 0/1 99 218 111 107 0.49 exonic rs2142661 RIBC2 AU unknown 0.132987 0.1687 0.140089 0.1528 0.1627 0.09 T 0.000 P -1.053 T 0.997 D 0.75 D Uncertain 22_45821935_G->A 22 45821935 45821935 G A snp 2216.77 0/1 99 192 101 91 0.47 exonic rs2142662 RIBC2 AU unknown 0.132588 0.1687 0.140243 0.1527 0.1630 Uncertain 22_45821956_C->G 22 45821956 45821956 C G snp 2045.77 0/1 99 172 81 91 0.53 exonic rs1022478 RIBC2 AU unknown 0.563898 0.5238 0.465247 0.4172 0.5410 0.72 T 0.130 P -1.039 T 0.199 T 0.093 T Uncertain 22_45822161_C->G 22 45822161 45822161 C G snp 301.78 1/1 24 10 0 10 1.0 intronic rs5765345 RIBC2 AU NM_015653 exon5 c.12288+106C>G 0.705671 0.6925 Uncertain 22_45826880_G->A 22 45826880 45826880 G A snp 3985.77 1/1 99 158 0 158 1.0 exonic rs2072770 RIBC2 AU unknown 0.709864 0.6925 0.620312 0.6298 0.7418 0.75 T 0.0 P -1.014 T 0.002 T 0.0 T Uncertain 22_45827020_G->A 22 45827020 45827020 G A snp 846.77 1/1 63 26 0 26 1.0 intronic rs5765352 RIBC2 AU NM_015653 exon6 c.17179+74G>A 0.710264 0.6925 Uncertain 22_45897997_T->C 22 45897997 45897997 T C snp 1027.77 0/1 99 89 48 41 0.46 upstream rs3810631 FBLN1 AD 0.570887 0.496 Uncertain 22_45898074_T->C 22 45898074 45898074 T C snp 2213.77 0/1 99 250 159 91 0.36 upstream rs3810632 FBLN1 AD 0.383786 0.2966 0.4497 0.2966 Uncertain 22_45898117_T->C 22 45898117 45898117 T C snp 2564.77 0/1 99 250 146 104 0.42 upstream rs3810633 FBLN1 AD 0.626997 0.494 0.6304 0.4752 Uncertain 22_45898130_A->T 22 45898130 45898130 A T snp 2474.77 0/1 99 250 145 105 0.42 upstream rs3810634 FBLN1 AD 0.623003 0.494 0.6279 0.4707 0 D 0.000 P -1.006 T Uncertain 22_45898252_T->G 22 45898252 45898252 T G snp 830.77 0/1 99 79 50 29 0.37 upstream rs3810635 FBLN1 AD 0.623203 0.495 0.6310 0.4527 Uncertain 22_45913394_G->A 22 45913394 45913394 G A snp 418.77 0/1 99 21 6 15 0.71 intronic rs5765441 FBLN1 AD NM_006487 exon2 c.15696-1167G>A 0.165136 0.2302 Uncertain 22_45913790_C->T 22 45913790 45913790 C T snp 136.03 1/1 12 4 0 4 1.0 intronic rs8143027 FBLN1 AD NM_006487 exon2 c.15696-771C>T 0.317692 0.5417 Uncertain 22_45914430_-->T 22 45914430 45914430 - T indel 150.73 0/1 99 8 3 5 0.63 intronic rs11421543 FBLN1 AD NM_006487 exon2 c.15696-131insT 0.433706 0.5595 Uncertain 22_45918877_A->T 22 45918877 45918877 A T snp 1031.77 1/1 75 36 0 36 1.0 intronic rs2018279 FBLN1 AD NM_006487 exon3 c.22557-2545A>T 0.47484 0.7192 Uncertain 22_45921359_G->A 22 45921359 45921359 G A snp 197.77 0/1 60 9 2 7 0.78 intronic rs1107180 FBLN1 AD NM_006487 exon3 c.22557-63G>A 0.20627 0.2054 Uncertain 22_45921631_C->T 22 45921631 45921631 C T snp 789.77 0/1 99 62 22 40 0.65 intronic rs6007075 FBLN1 AD NM_006487 exon3 c.22693+73C>T 0.0934505 0.0962 Uncertain 22_45923827_A->G 22 45923827 45923827 A G snp 2652.77 1/1 99 101 0 101 1.0 exonic rs136730 FBLN1 AD nonsynonymous SNV NM_006486 exon4 c.A422G p.Q141R 0.999601 1 0.998539 0.9988 1 0.81 T 0.000 P -0.960 T 0.0 T 0.001 T Pathogenic 22_45924001_-->G 22 45924001 45924001 - G indel 151.73 0/1 99 13 6 7 0.54 intronic rs136731 FBLN1 AD NM_006487 exon4 c.25024+112insG 0.941893 0.9187 Uncertain 22_45927045_T->C 22 45927045 45927045 T C snp 1069.77 0/1 99 68 28 40 0.59 intronic rs6006767 FBLN1 AD NM_006487 exon5 c.28279-99T>C 0.109026 0.0972 Uncertain 22_45927112_A->G 22 45927112 45927112 A G snp 1797.77 0/1 99 133 55 78 0.59 intronic rs2239844 FBLN1 AD NM_006487 exon5 c.28279-32A>G 0.109026 0.0972 0.085038 0.1053 0.1113 Uncertain 22_45927220_C->G 22 45927220 45927220 C G snp 1172.77 0/1 99 71 26 45 0.63 intronic rs6006768 FBLN1 AD NM_006487 exon5 c.28339+16C>G 0.178714 0.0972 0.157696 0.1261 0.1117 Uncertain 22_45928841_G->A 22 45928841 45928841 G A snp 77.77 0/1 99 7 4 3 0.43 intronic rs136745 FBLN1 AD NM_006487 exon6 c.30077-101G>A 0.915136 0.9663 Uncertain 22_45929200_T->C 22 45929200 45929200 T C snp 423.77 0/1 99 30 16 14 0.47 intronic rs11702924 FBLN1 AD NM_006487 exon6 c.30179+156T>C 0.109026 0.0972 Uncertain 22_45929577_T->C 22 45929577 45929577 T C snp 1587.77 0/1 99 123 61 62 0.5 intronic rs105199 FBLN1 AD NM_006487 exon7 c.30775-63T>C 0.938898 0.9673 Uncertain 22_45929614_C->T 22 45929614 45929614 C T snp 2083.77 0/1 99 179 92 87 0.49 intronic rs16994211 FBLN1 AD NM_006487 exon7 c.30775-26C>T 0.0690895 0.0893 0.041827 0.0697 0.1046 Uncertain 22_45931262_C->T 22 45931262 45931262 C T snp 988.77 0/1 99 59 27 32 0.54 intronic rs2071938 FBLN1 AD NM_006487 exon8 c.32352+45C>T 0.779353 0.8115 0.792865 0.8017 0.7913 Uncertain 22_45943203_A->G 22 45943203 45943203 A G snp 56.74 1/1 6 2 0 2 1.0 intronic rs739270 FBLN1 AD NM_006487 exon12 c.44219+119A>G 0.843251 0.9008 Uncertain 22_45954029_G->A 22 45954029 45954029 G A snp 446.77 1/1 33 17 0 17 1.0 intronic rs2097484 FBLN1 AD NM_006487 exon15 c.55085+79G>A 0.510184 0.5268 0.542707 Uncertain 22_45961213_C->T 22 45961213 45961213 C T snp 846.77 1/1 63 24 0 24 1.0 intronic rs1118 FBLN1 AD NM_006485 exon15 c.62716-368C>T 0.659744 0.6419 Uncertain 22_45961284_C->G 22 45961284 45961284 C G snp 99.28 1/1 9 3 0 3 1.0 intronic rs1119 FBLN1 AD NM_006485 exon15 c.62716-297C>G 0.455671 0.5129 Uncertain 22_45961904_G->T 22 45961904 45961904 G T snp 149.03 1/1 12 7 0 7 1.0 intronic rs1985671 FBLN1 AD NM_006485 exon15 c.62716+323G>T 0.661142 0.6419 Uncertain 22_45996110_A->G 22 45996110 45996110 A G snp 207.77 0/1 99 19 11 8 0.42 intronic rs2071871 FBLN1 AD NM_006486 exon17 c.97321-76A>G 0.354034 0.1796 Uncertain 22_46189432_A->G 22 46189432 46189432 A G snp 966.77 0/1 99 68 32 36 0.53 intronic rs16994541 ATXN10 AD NM_001167621 exon9 c.134895-13406A>G 0.00319489 0.0139 Uncertain 22_46327272_A->G 22 46327272 46327272 A G snp 520.77 0/1 99 39 18 21 0.54 intronic rs28652942 WNT7B AU NM_058238 exon2 c.8514+23A>G 0.0425319 0.0496 0.043113 0.0465 0.0730 Uncertain 22_46368130_T->C 22 46368130 46368130 T C snp 635.77 1/1 45 29 0 29 1.0 intronic rs62226057 WNT7B AU NM_058238 exon4 c.53828-4433T>C 0.778554 0.7421 0.6751 0.7015 Uncertain 22_46402715_G->T 22 46402715 46402715 G T snp 3403.77 0/1 99 250 111 139 0.56 ncRNA_exonic rs28575622 LOC730668 AU 0.0722843 0.1052 0.0889 0.1 Uncertain 22_46403039_G->A 22 46403039 46403039 G A snp 2071.77 0/1 99 161 68 93 0.58 ncRNA_exonic rs28469186 LOC730668 AU 0.0690895 0.1012 0.0866 0.1061 Uncertain 22_46505986_T->C 22 46505986 46505986 T C snp 1969.77 1/1 99 67 0 67 1.0 ncRNA_exonic rs2474020 MIRLET7BHG AU 0.998602 1 Uncertain 22_46509402_A->G 22 46509402 46509402 A G snp 86.28 1/1 9 3 0 3 1.0 ncRNA_exonic rs4823513 MIRLET7BHG AU 0.999601 1 0.9991 1 Uncertain 22_46664409_A->G 22 46664409 46664409 A G snp 2923.77 0/1 99 250 123 127 0.51 splicing rs144175578 TTC38 AU NM_017931 exon2 c.474-1A>G 0.00199681 0.0099 0.0008 0.0103 1 D Pathogenic 22_46677607_T->C 22 46677607 46677607 T C snp 4025.77 1/1 99 151 0 151 1.0 exonic rs130642 TTC38 AU nonsynonymous SNV NM_017931 exon7 c.T727C p.F243L 0.999601 1 0.999762 0.9999 1 0.81 T 0.000 P -0.945 T 0.0 T 0.001 T Pathogenic 22_46722400_T->C 22 46722400 46722400 T C snp 5974.77 1/1 99 213 0 213 1.0 exonic rs140054 GTSE1 AU nonsynonymous SNV NM_016426 exon9 c.T1573C p.W525R 0.971645 1 0.940489 0.9436 0.9999 1 T 0.0 P -0.974 T 0.0 T 0.0 T Pathogenic 22_46724558_T->C 22 46724558 46724558 T C snp 4934.77 1/1 99 172 0 172 1.0 intronic rs140053 GTSE1 AU NM_016426 exon10 c.31287-26T>C 0.973043 1 0.944948 0.9465 0.9999 Uncertain 22_46762116_G->A 22 46762116 46762116 G A snp 975.77 1/1 75 26 0 26 1.0 intronic rs55727785 CELSR1 AU NM_014246 exon6 c.3208-166G>A Uncertain 22_46762127_GCA->- 22 46762127 46762129 GCA - indel 1836.73 1/1 93 31 0 31 1.0 intronic rs55794855 CELSR1 AU NM_014246 exon6 c.3208-155_3208-153delGCA 0.727436 0.7411 Uncertain 22_46762136_G->A 22 46762136 46762136 G A snp 1038.77 1/1 81 33 0 33 1.0 intronic rs56214671 CELSR1 AU NM_014246 exon6 c.3208-146G>A 0.825679 0.8542 Uncertain 22_46762140_T->G 22 46762140 46762140 T G snp 1248.77 1/1 93 33 0 33 1.0 intronic rs56068935 CELSR1 AU NM_014246 exon6 c.3208-142T>G 0.825679 0.8542 Uncertain 22_46762147_T->- 22 46762147 46762147 T - indel 1472.73 1/1 99 35 0 35 1.0 intronic rs56338809 CELSR1 AU NM_014246 exon6 c.3208-135delT Uncertain 22_46762152_A->G 22 46762152 46762152 A G snp 1346.77 1/1 99 39 0 39 1.0 intronic rs9615353 CELSR1 AU NM_014246 exon6 c.3208-130A>G Uncertain 22_46765181_-->TCAGGTCGCCGAC 22 46765181 46765181 - TCAGGTCGCCGAC indel 27738.7 1/1 99 194 0 194 1.0 intronic rs11273699 CELSR1 AU NM_014246 exon9 c.6081+26insTCAGGTCGCCGAC 0.998802 1 0.983894 0.9959 1 Uncertain 22_46835000_T->C 22 46835000 46835000 T C snp 604.77 0/1 99 39 17 22 0.56 intronic rs4823810 CELSR1 AU NM_014246 exon33 c.76011-85T>C 0.129593 0.5863 Uncertain 22_46858687_G->A 22 46858687 46858687 G A snp 3431.77 1/1 99 121 0 121 1.0 intronic rs5768788 CELSR1 AU NM_014246 exon34 c.100529-916G>A 0.665935 0.8175 Uncertain 22_46859003_G->C 22 46859003 46859003 G C snp 1260.77 1/1 93 34 0 34 1.0 intronic rs3788696 CELSR1 AU NM_014246 exon34 c.100529-600G>C 0.51278 0.6131 Uncertain 22_46929359_C->G 22 46929359 46929359 C G snp 377.77 1/1 30 10 0 10 1.0 intronic rs5767248 CELSR1 AU NM_014246 exon35 c.170449-164C>G 0.941294 0.9772 Uncertain 22_46929692_A->G 22 46929692 46929692 A G snp 7813.77 1/1 99 250 0 250 1.0 exonic rs4823561 CELSR1 AU nonsynonymous SNV NM_014246 exon1 c.T3376C p.C1126R 0.952875 0.9772 0.933800 0.9406 0.9861 1 T 0.955 P -0.971 T 0.0 T 0.0 T Pathogenic 22_46931077_G->C 22 46931077 46931077 G C snp 3397.77 1/1 99 116 0 116 1.0 exonic rs4823850 CELSR1 AU nonsynonymous SNV NM_014246 exon1 c.C1991G p.S664W 0.888978 0.9772 0.866728 0.9222 0.9852 0.07 T 0.016 P -0.997 T 0.999 D 0.935 D Pathogenic 22_46931793_G->C 22 46931793 46931793 G C snp 6343.77 1/1 99 228 0 228 1.0 exonic rs1009154 CELSR1 AU synonymous SNV NM_014246 exon1 c.C1275G p.L425L 0.939896 0.9742 0.919683 0.9360 0.9824 Uncertain 22_46931838_G->A 22 46931838 46931838 G A snp 5996.77 1/1 99 197 0 197 1.0 exonic rs1009155 CELSR1 AU synonymous SNV NM_014246 exon1 c.C1230T p.S410S 0.886581 0.9742 0.860607 0.9209 0.9821 Uncertain 22_47057191_C->T 22 47057191 47057191 C T snp 3103.77 0/1 99 249 122 127 0.51 intronic rs2076707 GRAMD4 AU NM_015124 exon4 c.34581-86C>T 0.292332 0.3998 Uncertain 22_47057197_C->T 22 47057197 47057197 C T snp 3120.77 0/1 99 250 121 129 0.52 intronic rs2076708 GRAMD4 AU NM_015124 exon4 c.34581-80C>T 0.320687 0.3998 Uncertain 22_47058992_T->C 22 47058992 47058992 T C snp 2401.77 1/1 99 95 1 94 0.99 exonic rs2542040 GRAMD4 AU synonymous SNV NM_015124 exon5 c.T522C p.F174F 0.999401 0.997 0.999923 0.9994 0.9925 Uncertain 22_47059597_A->G 22 47059597 47059597 A G snp 336.77 0/1 99 36 20 16 0.44 intronic rs2542035 GRAMD4 AU NM_015124 exon6 c.37038-137A>G 0.551118 0.4236 Uncertain 22_47064164_C->A 22 47064164 47064164 C A snp 43.77 0/1 70 4 2 2 0.5 intronic rs2748338 GRAMD4 AU NM_015124 exon10 c.41368+100C>A 0.530351 0.4226 Uncertain 22_47064837_A->C 22 47064837 47064837 A C snp 435.77 0/1 99 33 15 18 0.55 intronic rs2076711 GRAMD4 AU NM_015124 exon12 c.42109+32A>C 0.231829 0.3988 0.216967 0.2736 0.3660 Uncertain 22_47068930_G->- 22 47068930 47068930 G - indel 320.73 0/1 99 44 18 26 0.59 intronic rs11350999 GRAMD4 AU NM_015124 exon13 c.46198+36delG 0.278155 0.0635 0.392172 0.3859 0.0591 Uncertain 22_47068935_G->T 22 47068935 47068935 G T snp 363.77 0/1 99 30 18 12 0.4 intronic rs135662 GRAMD4 AU NM_015124 exon13 c.46198+41G>T 0.279153 0.0635 0.256874 0.4133 0.0761 Uncertain 22_47070432_G->C 22 47070432 47070432 G C snp 598.77 0/1 99 62 38 24 0.39 intronic rs2073275 GRAMD4 AU NM_015124 exon15 c.47857-121G>C 0.230831 0.3978 Uncertain 22_47071531_T->C 22 47071531 47071531 T C snp 1517.77 0/1 99 109 48 61 0.56 intronic rs2073276 GRAMD4 AU NM_015124 exon16 c.48753+82T>C 0.344449 0.3988 Uncertain 22_47072477_G->A 22 47072477 47072477 G A snp 400.77 0/1 99 47 29 18 0.38 intronic rs2236028 GRAMD4 AU NM_015124 exon17 c.49800-19G>A 0.348043 0.4683 0.292520 0.3845 0.4746 Uncertain 22_47083010_T->C 22 47083010 47083010 T C snp 1479.77 0/1 99 127 63 64 0.5 UTR3 rs2542014 CERK AU 0.510583 0.381 0.521836 0.4448 0.3534 Uncertain 22_47083012_T->A 22 47083012 47083012 T A snp 1473.77 0/1 99 130 64 66 0.51 UTR3 rs2748349 CERK AU 0.480831 0.381 0.492696 0.4369 0.3530 Uncertain 22_47091321_C->T 22 47091321 47091321 C T snp 58.77 0/1 87 11 7 4 0.36 intronic rs135676 CERK AU NM_022766 exon5 c.8182+109C>T 0.203075 0.3601 Uncertain 22_47095092_G->A 22 47095092 47095092 G A snp 888.77 0/1 99 62 33 29 0.47 intronic rs185822418 CERK AU NM_022766 exon6 c.12179-117G>A 0.00279553 0.0119 Uncertain 22_47097450_C->T 22 47097450 47097450 C T snp 31.77 0/1 60 6 4 2 0.33 intronic rs135688 CERK AU NM_022766 exon7 c.14502-82C>T 0.255791 0.3601 Uncertain 22_47103512_G->A 22 47103512 47103512 G A snp 48.74 1/1 6 2 0 2 1.0 intronic rs135697 CERK AU NM_022766 exon8 c.20709-227G>A 0.247005 0.3413 Uncertain 22_47106800_T->C 22 47106800 47106800 T C snp 512.77 1/1 39 13 0 13 1.0 intronic rs135701 CERK AU NM_022766 exon9 c.23952-182T>C 0.197284 0.25 Uncertain 22_47115898_G->A 22 47115898 47115898 G A snp 174.77 0/1 99 12 6 6 0.5 intronic rs117403964 CERK AU NM_022766 exon11 c.32952-84G>A 0.0103834 0.0496 Uncertain 22_47134147_G->T 22 47134147 47134147 G T snp 187.77 0/1 99 11 5 6 0.55 UTR5 rs3747262 CERK AU 0.659944 0.751 Uncertain 22_47185265_G->T 22 47185265 47185265 G T snp 2749.77 0/1 99 206 89 117 0.57 intronic rs801606 TBC1D22A AU NM_014346 exon2 c.29733-3151G>T 0.61222 0.621 0.5638 0.5987 Uncertain 22_47274638_C->T 22 47274638 47274638 C T snp 2444.77 1/1 99 86 0 86 1.0 intronic rs131869 TBC1D22A AU NM_001284305 exon5 c.85200+19C>T 0.509385 0.5675 0.588104 0.6479 0.5662 Uncertain 22_47290858_T->C 22 47290858 47290858 T C snp 390.77 1/1 30 11 0 11 1.0 intronic rs2071119 TBC1D22A AU NM_001284305 exon7 c.101323+116T>C 0.730831 0.6339 Uncertain 22_47309007_G->A 22 47309007 47309007 G A snp 194.77 0/1 60 8 2 6 0.75 intronic rs5767410 TBC1D22A AU NM_001284305 exon8 c.118665+923G>A 0.772764 0.7133 Uncertain 22_47311404_A->T 22 47311404 47311404 A T snp 1256.77 0/1 99 99 43 56 0.57 ncRNA_exonic rs738935 TBC1D22A-AS1 AU 0.789736 0.7123 0.8073 0.68 Uncertain 22_47370060_A->G 22 47370060 47370060 A G snp 627.77 0/1 99 57 34 23 0.4 intronic rs4436 TBC1D22A AU NM_001284305 exon9 c.180766-125A>G 0.491014 0.4514 Uncertain 22_47370343_G->A 22 47370343 47370343 G A snp 496.77 0/1 99 33 14 19 0.58 intronic rs4437 TBC1D22A AU NM_001284305 exon9 c.180876+48G>A 0.19389 0.2966 0.181503 0.2207 0.3206 Uncertain 22_47393400_G->A 22 47393400 47393400 G A snp 223.77 0/1 99 15 7 8 0.53 intronic rs3747263 TBC1D22A AU NM_001284305 exon10 c.204110-129G>A 0.399561 0.3056 Uncertain 22_47568971_C->T 22 47568971 47568971 C T snp 252.8 1/1 21 7 0 7 1.0 intronic rs5767564 TBC1D22A AU NM_001284305 exon13 c.379721-169C>T 0.483626 0.5526 Uncertain 22_47857537_T->C 22 47857537 47857537 T C snp 1705.77 0/1 99 168 85 83 0.49 ncRNA_exonic rs130877 LL22NC03-75H12.2 AU 0.319089 0.1468 0.3097 0.1646 0 D -0.928 T Uncertain 22_47857551_T->G 22 47857551 47857551 T G snp 4258.77 1/1 99 161 0 161 1.0 ncRNA_exonic rs130878 LL22NC03-75H12.2 AU 0.383586 0.1825 0.3205 0.2016 0 D -0.955 T Uncertain 22_47857576_A->G 22 47857576 47857576 A G snp 1725.77 0/1 99 152 76 76 0.5 ncRNA_exonic rs130879 LL22NC03-75H12.2 AU 0.319089 0.1468 0.3090 0.1653 Uncertain 22_47857658_A->T 22 47857658 47857658 A T snp 675.41 0/1 8 36 7 29 0.81 ncRNA_intronic rs130880 LL22NC03-75H12.2 AU 0.400759 0.2103 Uncertain 22_47857659_A->T 22 47857659 47857659 A T snp 167.77 0/1 99 36 26 10 0.28 ncRNA_intronic rs130881 LL22NC03-75H12.2 AU 0.297923 0.1448 Uncertain 22_47882416_T->C 22 47882416 47882416 T C snp 2720.77 0/1 99 250 141 109 0.44 ncRNA_intronic rs117274053 LL22NC03-75H12.2 AU 0.00858626 0.0367 Uncertain 22_47882691_C->T 22 47882691 47882691 C T snp 75.77 0/1 30 4 1 3 0.75 ncRNA_exonic rs116884753 LL22NC03-75H12.2 AU 0.00858626 0.0367 Uncertain 22_48023241_G->T 22 48023241 48023241 G T snp 4532.77 1/1 99 156 0 156 1.0 ncRNA_exonic rs8137874 LINC00898 AU 0.624401 0.7589 Uncertain 22_48670252_G->C 22 48670252 48670252 G C snp 676.77 0/1 99 60 31 29 0.48 downstream rs5768491 MIR3201 AU 0.188898 0.3294 0.1273 0.4038 Uncertain 22_48896580_G->A 22 48896580 48896580 G A snp 404.77 0/1 99 24 10 14 0.58 intronic rs10460766 FAM19A5 AU NM_001082967 exon1 c.112+11064G>A 0.379193 0.4563 Uncertain 22_48940423_T->G 22 48940423 48940423 T G snp 3107.77 0/1 99 250 128 122 0.49 ncRNA_intronic rs58574281 LOC284933 AU 0.159545 0.2421 Uncertain 22_48940553_T->C 22 48940553 48940553 T C snp 7244.77 1/1 99 250 1 249 1.0 ncRNA_exonic rs4823540 LOC284933 AU 0.734225 0.7946 0.7355 0.8008 0 D 0.0 P -1.035 T Uncertain 22_48940644_C->T 22 48940644 48940644 C T snp 2201.77 0/1 99 153 71 82 0.54 ncRNA_exonic rs9615919 LOC284933 AU 0.435503 0.377 0.6372 0.3868 Uncertain 22_48940714_-->C 22 48940714 48940714 - C indel 1177.73 0/1 99 64 32 32 0.5 ncRNA_exonic rs78672876 LOC284933 AU 0.166334 0.2421 0.0685 0.2613 Uncertain 22_48942566_G->A 22 48942566 48942566 G A snp 471.77 0/1 99 28 13 15 0.54 ncRNA_exonic rs739155 LOC284933 AU 0.427915 0.3651 Uncertain 22_49042294_C->T 22 49042294 49042294 C T snp 398.77 0/1 99 21 8 13 0.62 intronic rs9617472 FAM19A5 AU NM_001082967 exon2 c.157004-114C>T 0.461062 0.4623 Uncertain 22_49042316_T->C 22 49042316 49042316 T C snp 234.77 0/1 99 31 21 10 0.32 intronic rs9617407 FAM19A5 AU NM_001082967 exon2 c.157004-92T>C 0.227037 0.3026 Uncertain 22_49103380_A->G 22 49103380 49103380 A G snp 619.77 1/1 48 16 0 16 1.0 intronic rs130147 FAM19A5 AU NM_001082967 exon3 c.218124-148A>G 0.648562 0.6171 Uncertain 22_49103660_T->C 22 49103660 49103660 T C snp 3651.77 1/1 99 117 0 117 1.0 splicing rs132234 FAM19A5 AU NM_001082967 exon3 c.218252+4T>C 0.691494 0.6696 0.753824 0.7062 0.6851 Pathogenic 22_49176220_C->T 22 49176220 49176220 C T snp 4219.77 1/1 99 164 0 164 1.0 downstream rs6010527 MIR4535 AU 0.636581 0.6319 Uncertain 22_49246458_T->C 22 49246458 49246458 T C snp 362.77 0/1 99 32 17 15 0.47 intergenic rs28384366 MIR4535 AU 0.493211 0.745 Uncertain 22_49246723_A->C 22 49246723 49246723 A C snp 276.77 0/1 99 29 19 10 0.34 intergenic rs28394186 MIR4535 AU 0.492812 0.745 0.5413 0.7604 Uncertain 22_49246747_T->C 22 49246747 49246747 T C snp 62.77 0/1 91 15 12 3 0.2 intergenic rs28556787 MIR4535 AU 0.493211 0.745 0.5479 0.7604 Uncertain 22_49575758_T->C 22 49575758 49575758 T C snp 41.77 0/1 70 4 2 2 0.5 intergenic rs9627897 LINC01310 AU 0.120407 0.2341 Uncertain 22_49667912_C->T 22 49667912 49667912 C T snp 169.77 0/1 99 32 22 10 0.31 intergenic rs9616543 LINC01310 AU 0.275759 0.3244 Uncertain 22_49667985_G->A 22 49667985 49667985 G A snp 295.77 0/1 99 53 39 14 0.26 intergenic rs7289562 LINC01310 AU 0.591653 0.4008 Uncertain 22_49668137_T->G 22 49668137 49668137 T G snp 468.77 0/1 99 35 13 22 0.63 intergenic rs7288663 LINC01310 AU 0.28095 0.3284 Uncertain 22_49668188_T->C 22 49668188 49668188 T C snp 515.77 1/1 39 18 1 17 0.94 intergenic rs2688112 LINC01310 AU 0.874201 0.9851 Uncertain 22_49834624_A->G 22 49834624 49834624 A G snp 430.77 0/1 99 37 22 15 0.41 intergenic rs11705513 LINC01310 AU 0.25599 0.3036 Uncertain 22_49834747_C->T 22 49834747 49834747 C T snp 3198.81 0/1 99 250 130 120 0.48 intergenic rs1016809 LINC01310 AU 0.499401 0.369 0.6225 0.4078 Uncertain 22_49937184_G->A 22 49937184 49937184 G A snp 844.77 0/1 99 102 60 42 0.41 upstream rs135771 MIR3667 AU 0.207069 0.3105 Uncertain 22_50014002_A->G 22 50014002 50014002 A G snp 384.77 0/1 99 25 13 12 0.48 downstream rs135877 C22orf34 AU 0.659744 0.4464 Uncertain 22_50014369_T->A 22 50014369 50014369 T A snp 104.77 0/1 99 12 8 4 0.33 intronic rs135878 C22orf34 AU NM_001289922 exon1 c.14+61T>A 0.69369 0.4464 Uncertain 22_50017234_A->G 22 50017234 50017234 A G snp 2820.77 0/1 99 230 112 118 0.51 intronic rs916362 C22orf34 AU NM_001289922 exon2 c.3531-591A>G 0.603235 0.4464 0.6140 0.5047 Uncertain 22_50018045_G->A 22 50018045 50018045 G A snp 603.77 0/1 99 53 30 23 0.43 intronic rs763128 C22orf34 AU NM_001289922 exon3 c.3800-49G>A 0.637181 0.4464 0.6726 0.5139 0.083 P -1.024 T Uncertain 22_50018069_A->G 22 50018069 50018069 A G snp 997.77 0/1 99 80 41 39 0.49 intronic rs2011097 C22orf34 AU NM_001289922 exon3 c.3800-25A>G 0.645767 0.4464 0.6764 0.5121 0.022 P -0.951 T Uncertain 22_50018497_G->A 22 50018497 50018497 G A snp 2153.77 0/1 99 215 121 94 0.44 intronic rs5770594 C22orf34 AU NM_001289922 exon4 c.4211-8G>A 0.427316 0.3383 0.5318 0.4050 Uncertain 22_50018639_G->A 22 50018639 50018639 G A snp 766.77 0/1 99 53 27 26 0.49 intronic rs4524218 C22orf34 AU NM_001289922 exon4 c.4290+55G>A 0.427915 0.3383 Uncertain 22_50018651_C->T 22 50018651 50018651 C T snp 634.77 0/1 99 40 20 20 0.5 intronic rs135879 C22orf34 AU NM_001289922 exon4 c.4290+67C>T 0.546725 0.4464 Uncertain 22_50018654_T->A 22 50018654 50018654 T A snp 633.77 0/1 99 38 18 20 0.53 intronic rs135880 C22orf34 AU NM_001289922 exon4 c.4290+70T>A 0.546725 0.4464 Uncertain 22_50051007_A->G 22 50051007 50051007 A G snp 196.77 0/1 99 38 25 13 0.34 UTR5 rs6009803 C22orf34 AU 0.683506 0.4593 0.6533 0.6408 Uncertain 22_50216754_G->A 22 50216754 50216754 G A snp 3114.77 0/1 99 249 125 124 0.5 exonic rs2239848 BRD1 AU synonymous SNV NM_001304808 exon2 c.C1212T p.V404V 0.141174 0.1458 0.100415 0.0513 0.1343 Uncertain 22_50277835_T->C 22 50277835 50277835 T C snp 5375.77 1/1 99 200 0 200 1.0 exonic rs910796 ZBED4 AU synonymous SNV NM_014838 exon2 c.T525C p.S175S 0.935304 0.9464 0.924804 0.9088 0.9657 Uncertain 22_50277883_A->G 22 50277883 50277883 A G snp 5590.77 1/1 99 194 0 194 1.0 exonic rs910797 ZBED4 AU synonymous SNV NM_014838 exon2 c.A573G p.P191P 0.935304 0.9464 0.924804 0.9095 0.9657 Uncertain 22_50278438_A->G 22 50278438 50278438 A G snp 4747.77 1/1 99 170 1 169 0.99 exonic rs910798 ZBED4 AU synonymous SNV NM_014838 exon2 c.A1128G p.P376P 0.934305 0.9464 0.924881 0.9092 0.9668 Uncertain 22_50278568_A->G 22 50278568 50278568 A G snp 5394.77 1/1 99 180 1 179 0.99 exonic rs910799 ZBED4 AU nonsynonymous SNV NM_014838 exon2 c.A1258G p.I420V 0.617812 0.8264 0.626634 0.7499 0.8659 0.99 T 0.0 P -0.932 T 0.0 T 0.0 T Pathogenic 22_50278642_C->T 22 50278642 50278642 C T snp 6979.77 1/1 99 250 0 250 1.0 exonic rs910800 ZBED4 AU synonymous SNV NM_014838 exon2 c.C1332T p.G444G 0.60024 0.8244 0.617715 0.7318 0.8647 Uncertain 22_50280136_T->C 22 50280136 50280136 T C snp 7989.77 1/1 99 248 1 247 1.0 exonic rs5770755 ZBED4 AU synonymous SNV NM_014838 exon2 c.T2826C p.A942A 0.590056 0.8264 0.617715 0.7386 0.8639 Uncertain 22_50315361_G->A 22 50315361 50315361 G A snp 1728.77 0/1 99 133 57 76 0.57 exonic rs144291562 CRELD2 AU nonsynonymous SNV NM_001135101 exon5 c.G544A p.D182N 0.00259585 0.0129 0.0014 0.0199 0.45 T 1.000 N 0.188 D 0.999 D 0.922 D ID=COSM1580739,COSM1580740;OCCURENCE=3(haematopoietic_and_lymphoid_tissue) Pathogenic 22_50317092_G->A 22 50317092 50317092 G A snp 2841.77 0/1 99 220 104 116 0.53 intronic rs775242033 CRELD2 AU NM_001135101 exon8 c.4548+127G>A Uncertain 22_50354819_C->A 22 50354819 50354819 C A snp 1130.77 0/1 99 75 31 44 0.59 exonic rs11541025 PIM3 AU synonymous SNV NM_001001852 exon2 c.C132A p.A44A 0.371805 0.3383 0.321855 0.4931 0.4438 Uncertain 22_50356274_C->T 22 50356274 50356274 C T snp 496.77 0/1 99 46 26 20 0.43 intronic rs28645887 PIM3 AU NM_001001852 exon5 c.1741-62C>T 0.419928 0.4127 Uncertain 22_50356302_C->T 22 50356302 50356302 C T snp 739.77 0/1 99 69 40 29 0.42 intronic rs28691713 PIM3 AU NM_001001852 exon5 c.1741-34C>T 0.447284 0.4117 0.513615 0.4454 0.4131 Uncertain 22_50356555_T->C 22 50356555 50356555 T C snp 1285.77 0/1 99 117 66 51 0.44 ncRNA_exonic rs4078443 MIR6821 AU 0.726038 0.7788 0.754657 0.7283 0.7821 Uncertain 22_50356693_T->C 22 50356693 50356693 T C snp 704.77 0/1 99 75 43 32 0.43 exonic rs4077129 PIM3 AU nonsynonymous SNV NM_001001852 exon6 c.T899C p.V300A 0.72504 0.7778 0.754429 0.7280 0.7793 0.91 T 0.0 P -0.983 T 0.003 T 0.001 T Pathogenic 22_50356850_C->T 22 50356850 50356850 C T snp 145.77 0/1 99 22 13 9 0.41 UTR3 rs1801645 PIM3 AU 0.70627 0.7639 Uncertain 22_50435480_A->G 22 50435480 50435480 A G snp 958.77 0/1 99 75 37 38 0.51 exonic rs5771069 IL17REL AU nonsynonymous SNV NM_001001694 exon14 c.T998C p.L333P 0.607029 0.5536 0.537108 0.6274 0.5965 0.26 T 0.0 P -0.949 T 0.0 T 0.0 T ID=CM1010093;DIS=Ulcerative colitis, increased risk, association with;TAG=DP;PUB=20228798 DP Pathogenic 22_50436846_-->TCC 22 50436846 50436846 - TCC indel 3739.73 1/1 99 85 0 85 1.0 intronic rs137844 IL17REL AU NM_001001694 exon6 c.1272+108insTCC 0.928115 0.8929 Uncertain 22_50439194_C->T 22 50439194 50439194 C T snp 384.77 0/1 99 38 19 19 0.5 exonic rs9617090 IL17REL AU nonsynonymous SNV NM_001001694 exon5 c.G208A p.G70R 0.265176 0.3343 0.338161 0.3475 0.3345 0.53 T 0.0 P -0.905 T 0.0 T 0.0 T Pathogenic 22_50439430_A->G 22 50439430 50439430 A G snp 495.77 0/1 99 38 17 21 0.55 intronic rs137845 IL17REL AU NM_001001694 exon12 c.4044-80A>G 0.608027 0.5615 Uncertain 22_50468907_C->G 22 50468907 50468907 C G snp 557.77 0/1 99 46 24 22 0.48 intergenic rs738333 IL17REL AU 0.326677 0.1974 0.581887 0.3649 0.1940 0.48 T 1 N -0.941 T 0.0 T 0.0 T Uncertain 22_50471621_C->- 22 50471621 50471621 C - indel 2538.73 0/1 99 145 74 71 0.49 intergenic rs5845912 IL17REL AU 0.304313 0.1647 0.410314 0.4805 0.2432 Uncertain 22_50472042_T->G 22 50472042 50472042 T G snp 38.78 0/1 27 3 1 2 0.67 intergenic rs5771309 IL17REL AU 0.30651 0.1657 Uncertain 22_50479856_A->C 22 50479856 50479856 A C snp 192.77 0/1 99 11 5 6 0.55 intergenic rs9617137 IL17REL AU 0.448882 0.4077 Uncertain 22_50480108_C->T 22 50480108 50480108 C T snp 2592.77 0/1 99 216 108 108 0.5 intergenic rs9628315 IL17REL AU 0.402356 0.3859 0.463814 0.4476 0.3816 0.89 T 0.0 P -0.964 T 0.005 T 0.006 T Uncertain 22_50483850_T->C 22 50483850 50483850 T C snp 1380.77 0/1 99 108 53 55 0.51 intergenic rs8138121 IL17REL AU 0.2502 0.1518 0.335713 0.3569 0.1350 Uncertain 22_50483889_A->G 22 50483889 50483889 A G snp 895.77 0/1 99 69 37 32 0.46 intergenic rs8137790 IL17REL AU 0.453075 0.4067 Uncertain 22_50483926_T->C 22 50483926 50483926 T C snp 400.77 0/1 99 32 18 14 0.44 intergenic rs8138277 IL17REL AU 0.452875 0.4058 Uncertain 22_50485793_T->C 22 50485793 50485793 T C snp 2209.77 1/1 99 78 0 78 1.0 intergenic rs137906 IL17REL AU 0.86242 0.9187 Uncertain 22_50487567_T->C 22 50487567 50487567 T C snp 685.77 1/1 51 22 0 22 1.0 intergenic rs137911 IL17REL AU 0.860423 0.9187 Uncertain 22_50499964_T->C 22 50499964 50499964 T C snp 701.77 0/1 99 49 23 26 0.53 UTR3 rs137919 MLC1 AR 0.282947 0.3373 0.229237 0.2974 0.3342 Uncertain 22_50499967_T->C 22 50499967 50499967 T C snp 691.77 0/1 99 52 28 24 0.46 UTR3 rs2072873 MLC1 AR 0.150359 0.1677 0.148031 0.1460 0.2011 Uncertain 22_50512514_T->G 22 50512514 50512514 T G snp 80.77 0/1 96 6 3 3 0.5 intronic rs2272832 MLC1 AR NM_015166 exon5 c.12633-130T>G 0.603634 0.3194 Uncertain 22_50512617_C->T 22 50512617 50512617 C T snp 1280.77 0/1 99 109 57 52 0.48 intronic rs2038048 MLC1 AR NM_015166 exon5 c.12633-27C>T 0.28774 0.1905 0.378655 0.4249 0.2399 Uncertain 22_50515459_G->A 22 50515459 50515459 G A snp 267.8 1/1 21 7 0 7 1.0 intronic rs4838882 MLC1 AR NM_015166 exon6 c.15330+118G>A 0.93151 0.9127 Uncertain 22_50515766_C->T 22 50515766 50515766 C T snp 796.77 0/1 99 80 48 32 0.4 intronic rs2076137 MLC1 AR NM_015166 exon7 c.15818-63C>T 0.152556 0.1746 ID=CS056433;DIS=Schizophrenia, association with;TAG=DP;PUB=15992519 DP Uncertain 22_50515808_C->T 22 50515808 50515808 C T snp 1118.77 0/1 99 108 63 45 0.42 intronic rs2072874 MLC1 AR NM_015166 exon7 c.15818-21C>T 0.152756 0.1746 0.132554 0.1720 0.2127 Uncertain 22_50518239_T->C 22 50518239 50518239 T C snp 174.77 0/1 99 19 12 7 0.37 intronic rs2235349 MLC1 AR NM_015166 exon8 c.18335-107T>C 0.242812 0.245 ID=CS056432;DIS=Schizophrenia, association with;TAG=DP;PUB=15992519 DP Uncertain 22_50518723_A->G 22 50518723 50518723 A G snp 3408.77 1/1 99 115 0 115 1.0 intronic rs79301 MLC1 AR NM_015166 exon9 c.18761-49A>G 0.973642 0.999 0.946000 0.9515 0.9962 Uncertain 22_50528483_-->CGGCGGTGA 22 50528483 50528483 - CGGCGGTGA indel 1401.73 0/1 99 40 25 15 0.38 UTR5 MOV10L1 AU Uncertain 22_50528497_A->G 22 50528497 50528497 A G snp 461.77 0/1 99 55 32 23 0.42 UTR5 rs13058235 MOV10L1 AU 0.0577 . Uncertain 22_50528569_A->T 22 50528569 50528569 A T snp 589.77 0/1 99 78 45 33 0.42 exonic rs12628964 MOV10L1 AU nonsynonymous SNV NM_001164104 exon1 c.A52T p.T18S 0.248003 0.255 0.2594 0.3182 0.77 T 0.000 P -1.079 T 0.0 T 0.001 T Pathogenic 22_50528916_C->T 22 50528916 50528916 C T snp 2097.77 0/1 99 162 70 92 0.57 exonic rs9617018 MOV10L1 AU synonymous SNV NM_001164105 exon1 c.C12T p.L4L 0.164736 0.1944 0.134854 0.2109 0.2597 Uncertain 22_50529134_T->C 22 50529134 50529134 T C snp 392.77 0/1 99 29 14 15 0.52 intronic rs8142824 MOV10L1 AU NM_001164105 exon1 c.37+193T>C 0.246406 0.2569 Uncertain 22_50529146_C->T 22 50529146 50529146 C T snp 185.77 0/1 99 16 9 7 0.44 intronic rs8140485 MOV10L1 AU NM_001164105 exon1 c.37+205C>T 0.247604 0.2569 Uncertain 22_50529148_C->G 22 50529148 50529148 C G snp 186.77 0/1 99 14 7 7 0.5 intronic rs8140486 MOV10L1 AU NM_001164105 exon1 c.37+207C>G 0.247604 0.2569 Uncertain 22_50530501_A->T 22 50530501 50530501 A T snp 2763.77 0/1 99 228 113 115 0.5 exonic rs9617066 MOV10L1 AU nonsynonymous SNV NM_001164104 exon2 c.A169T p.M57L 0.250599 0.255 0.211210 0.2635 0.2790 1 T 0.000 P -1.057 T 0.0 T 0.0 T Pathogenic 22_50530651_G->A 22 50530651 50530651 G A snp 863.77 0/1 99 62 28 34 0.55 intronic rs738490 MOV10L1 AU NM_001164105 exon2 c.1710+37G>A 0.170327 0.2808 0.131247 0.1838 0.2687 Uncertain 22_50538174_G->A 22 50538174 50538174 G A snp 44.77 0/1 33 3 1 2 0.67 intronic rs9617023 MOV10L1 AU NM_001164105 exon3 c.9127+143G>A 0.246206 0.248 Uncertain 22_50546666_C->T 22 50546666 50546666 C T snp 3200.06 0/1 99 250 115 135 0.54 exonic rs3810971 MOV10L1 AU nonsynonymous SNV NM_001164104 exon4 c.C544T p.R182C 0.246805 0.248 0.208904 0.2855 0.3002 0 D 1.000 P -1.018 T 1.0 D 0.96 D Pathogenic 22_50546844_T->A 22 50546844 50546844 T A snp 1368.77 0/1 99 113 57 56 0.5 intronic rs3810972 MOV10L1 AU NM_001164105 exon4 c.17773+167T>A 0.246406 0.248 0.2827 0.2362 Uncertain 22_50546868_G->T 22 50546868 50546868 G T snp 1054.77 0/1 99 83 44 39 0.47 intronic rs3810973 MOV10L1 AU NM_001164105 exon4 c.17773+191G>T 0.246406 0.248 Uncertain 22_50546900_C->T 22 50546900 50546900 C T snp 676.77 0/1 99 55 31 24 0.44 intronic rs3810974 MOV10L1 AU NM_001164105 exon5 c.18181-185C>T 0.246406 0.248 Uncertain 22_50546971_A->G 22 50546971 50546971 A G snp 105.77 0/1 99 11 7 4 0.36 intronic rs3810975 MOV10L1 AU NM_001164105 exon5 c.18181-114A>G 0.246805 0.25 Uncertain 22_50547247_A->G 22 50547247 50547247 A G snp 2346.77 1/1 99 87 0 87 1.0 exonic rs138217 MOV10L1 AU synonymous SNV NM_001164104 exon5 c.A717G p.A239A 0.996206 1 0.992388 0.9931 0.9997 Uncertain 22_50548214_C->T 22 50548214 50548214 C T snp 177.78 0/1 27 12 2 10 0.83 intronic rs11703494 MOV10L1 AU NM_001164105 exon5 c.18369+941C>T 0.246406 0.248 Uncertain 22_50552278_C->T 22 50552278 50552278 C T snp 885.77 0/1 99 90 53 37 0.41 intronic rs4838839 MOV10L1 AU NM_001164105 exon6 c.23313+61C>T 0.246406 0.248 Uncertain 22_50552349_T->C 22 50552349 50552349 T C snp 222.77 0/1 99 12 5 7 0.58 intronic rs5771075 MOV10L1 AU NM_001164105 exon6 c.23313+132T>C Uncertain 22_50552736_T->C 22 50552736 50552736 T C snp 165.77 0/1 99 21 14 7 0.33 intronic rs4240525 MOV10L1 AU NM_001164105 exon7 c.23905-73T>C 0.246406 0.248 Uncertain 22_50553148_C->T 22 50553148 50553148 C T snp 367.77 0/1 99 36 23 13 0.36 intronic rs9617079 MOV10L1 AU NM_001164105 exon7 c.24147+97C>T 0.246605 0.248 Uncertain 22_50553514_A->T 22 50553514 50553514 A T snp 1537.77 0/1 99 102 40 62 0.61 intronic rs742183 MOV10L1 AU NM_001164105 exon8 c.24638-28A>T 0.246406 0.248 0.207865 0.2637 0.2759 Uncertain 22_50553862_G->A 22 50553862 50553862 G A snp 50.74 1/1 6 2 0 2 1.0 intronic rs715506 MOV10L1 AU NM_001164105 exon8 c.24771+187G>A 0.495407 0.5308 Uncertain 22_50555486_G->C 22 50555486 50555486 G C snp 449.77 1/1 36 15 0 15 1.0 intronic rs126241 MOV10L1 AU NM_001164105 exon9 c.26681-99G>C 0.973842 0.999 Uncertain 22_50555619_C->T 22 50555619 50555619 C T snp 2969.77 1/1 99 106 0 106 1.0 exonic rs138222 MOV10L1 AU synonymous SNV NM_001164104 exon9 c.C1293T p.L431L 0.930511 0.9087 0.925111 0.9228 0.8929 Uncertain 22_50555635_C->T 22 50555635 50555635 C T snp 1252.77 0/1 99 121 68 53 0.44 exonic rs882753 MOV10L1 AU synonymous SNV NM_001164104 exon9 c.C1309T p.L437L 0.138978 0.1518 0.130709 0.1493 0.1715 Uncertain 22_50555686_A->C 22 50555686 50555686 A C snp 1444.77 0/1 99 135 70 65 0.48 exonic rs760749 MOV10L1 AU nonsynonymous SNV NM_001164104 exon9 c.A1360C p.I454L 0.147963 0.2391 0.120252 0.1575 0.2255 0.97 T 0.000 P -0.953 T 0.472 P 0.082 P Pathogenic 22_50563708_C->T 22 50563708 50563708 C T snp 233.77 0/1 99 26 15 11 0.42 intronic rs2272833 MOV10L1 AU NM_001164105 exon11 c.34916-112C>T 0.153554 0.2381 Uncertain 22_50564413_A->G 22 50564413 50564413 A G snp 143.03 1/1 12 5 0 5 1.0 intronic rs138242 MOV10L1 AU NM_001164105 exon12 c.35726-217A>G 0.924321 0.9117 Uncertain 22_50564419_C->T 22 50564419 50564419 C T snp 82.77 0/1 67 7 2 5 0.71 intronic rs9617088 MOV10L1 AU NM_001164105 exon12 c.35726-211C>T 0.247804 0.253 Uncertain 22_50564442_C->T 22 50564442 50564442 C T snp 82.77 0/1 99 10 5 5 0.5 intronic rs9617034 MOV10L1 AU NM_001164105 exon12 c.35726-188C>T 0.247804 0.253 Uncertain 22_50564510_T->C 22 50564510 50564510 T C snp 229.77 0/1 99 23 12 11 0.48 intronic rs9617089 MOV10L1 AU NM_001164105 exon12 c.35726-120T>C 0.248003 0.253 Uncertain 22_50564535_T->C 22 50564535 50564535 T C snp 610.77 0/1 99 36 15 21 0.58 intronic rs5771077 MOV10L1 AU NM_001164105 exon12 c.35726-95T>C 0.153554 0.2381 Uncertain 22_50564618_-->T 22 50564618 50564618 - T indel 1408.73 0/1 99 117 63 54 0.46 intronic rs3830747 MOV10L1 AU NM_001164105 exon12 c.35726-12insT 0.247804 0.253 0.2691 0.2871 Uncertain 22_50566781_T->G 22 50566781 50566781 T G snp 600.77 0/1 99 57 32 25 0.44 intronic rs4838809 MOV10L1 AU NM_001164105 exon13 c.37940-63T>G 0.247804 0.253 Uncertain 22_50566835_C->T 22 50566835 50566835 C T snp 805.77 0/1 99 114 70 44 0.39 intronic rs13055917 MOV10L1 AU NM_001164105 exon13 c.37940-9C>T 0.247804 0.253 0.207403 0.2641 0.2820 Uncertain 22_50572406_A->G 22 50572406 50572406 A G snp 1835.77 0/1 99 177 90 87 0.49 intronic rs3736686 MOV10L1 AU NM_001164105 exon14 c.43531-29A>G 0.153355 0.2371 0.128864 0.1648 0.2253 Uncertain 22_50572473_G->A 22 50572473 50572473 G A snp 2245.77 0/1 99 184 85 99 0.54 exonic rs2340601 MOV10L1 AU nonsynonymous SNV NM_001164104 exon14 c.G1948A p.V650I 0.248003 0.254 0.208827 0.2647 0.2841 0.27 T 1.000 P -1.097 T 0.903 T 0.232 P Pathogenic 22_50573081_T->G 22 50573081 50573081 T G snp 2194.77 0/1 99 189 93 96 0.51 intronic rs3736690 MOV10L1 AU NM_001164105 exon15 c.44155+22T>G 0.242612 0.254 0.196063 0.2521 0.2850 Uncertain 22_50580699_C->T 22 50580699 50580699 C T snp 432.77 0/1 99 30 16 14 0.47 intronic rs9617102 MOV10L1 AU NM_001164105 exon16 c.51714+81C>T 0.141573 0.1528 Uncertain 22_50581707_T->C 22 50581707 50581707 T C snp 936.77 0/1 99 75 38 37 0.49 intronic rs2272835 MOV10L1 AU NM_001164105 exon17 c.52746+57T>C 0.254792 0.2708 0.2732 0.3122 Uncertain 22_50582550_C->A 22 50582550 50582550 C A snp 2304.77 0/1 99 247 143 104 0.42 exonic rs2272836 MOV10L1 AU synonymous SNV NM_001164104 exon18 c.C2383A p.R795R 0.227636 0.2431 0.173074 0.2297 0.2648 Uncertain 22_50582626_A->G 22 50582626 50582626 A G snp 1498.77 0/1 99 174 105 69 0.4 exonic rs2272837 MOV10L1 AU nonsynonymous SNV NM_001164104 exon18 c.A2459G p.Q820R 0.33746 0.5734 0.223974 0.3016 0.5777 0.54 T 0.000 P -0.976 T 0.0 T 0.001 T Pathogenic 22_50584201_A->C 22 50584201 50584201 A C snp 936.77 0/1 99 88 47 41 0.47 exonic rs2272838 MOV10L1 AU synonymous SNV NM_001164104 exon19 c.A2589C p.T863T 0.25 0.252 0.211979 0.2665 0.2806 Uncertain 22_50585442_C->G 22 50585442 50585442 C G snp 1152.77 0/1 99 131 77 54 0.41 intronic rs4838811 MOV10L1 AU NM_001164105 exon19 c.55335+1203C>G 0.259185 0.252 Uncertain 22_50585595_G->A 22 50585595 50585595 G A snp 261.77 0/1 99 30 18 12 0.4 intronic rs4838851 MOV10L1 AU NM_001164106 exon1 c.8+17G>A 0.242612 0.252 0.202682 0.3254 0.3651 Uncertain 22_50585626_A->G 22 50585626 50585626 A G snp 155.77 0/1 99 9 3 6 0.67 intronic rs4838852 MOV10L1 AU NM_001164106 exon1 c.8+48A>G 0.565296 0.3194 0.2729 0.0961 Uncertain 22_50587979_T->G 22 50587979 50587979 T G snp 1187.77 0/1 99 113 65 48 0.42 intronic rs138270 MOV10L1 AU NM_001164105 exon20 c.59139-64T>G 0.332268 0.2907 Uncertain 22_50588153_G->A 22 50588153 50588153 G A snp 693.77 0/1 99 62 33 29 0.47 intronic rs2272840 MOV10L1 AU NM_001164105 exon20 c.59239+10G>A 0.25 0.247 0.213550 0.2916 0.2970 Uncertain 22_50589196_C->A 22 50589196 50589196 C A snp 1869.77 0/1 99 122 48 74 0.61 exonic rs2294396 MOV10L1 AU synonymous SNV NM_001164106 exon3 c.C141A p.G47G 0.144369 0.2431 0.112256 0.1495 0.2282 Uncertain 22_50591683_G->A 22 50591683 50591683 G A snp 2366.77 0/1 99 219 117 102 0.47 intronic rs738337 MOV10L1 AU NM_001164105 exon22 c.62743+36G>A 0.14397 0.2431 0.112333 0.1482 0.2288 Uncertain 22_50599111_T->C 22 50599111 50599111 T C snp 597.77 0/1 99 51 28 23 0.45 splicing rs2272841 MOV10L1 AU NM_001164105 exon25 c.70212-5T>C 0.148762 0.2431 0.125173 0.1613 0.2303 Pathogenic 22_50599466_C->A 22 50599466 50599466 C A snp 1211.77 0/1 99 78 35 43 0.55 exonic rs2272843 MOV10L1 AU nonsynonymous SNV NM_001164106 exon8 c.C917A p.A306E 0.124601 0.1488 0.116946 0.1461 0.1614 1 T 0.000 P -0.958 T 0.0 T 0.001 T Pathogenic 22_50613714_A->G 22 50613714 50613714 A G snp 258.8 1/1 21 7 0 7 1.0 intronic rs2294397 PANX2 AU NM_052839 exon2 c.6208-1653A>G 0.944289 0.9167 Uncertain 22_50616806_A->G 22 50616806 50616806 A G snp 134.77 0/1 99 26 20 6 0.23 exonic rs5771206 PANX2 AU synonymous SNV NM_001160300 exon2 c.A1665G p.L555L 0.560903 0.5188 0.6213 0.6030 Uncertain 22_50633048_T->G 22 50633048 50633048 T G snp 746.77 0/1 99 51 27 24 0.47 intronic rs730559 TRABD AU NM_025204 exon4 c.1446+113T>G 0.265775 0.253 Uncertain 22_50635848_C->G 22 50635848 50635848 C G snp 2705.77 0/1 99 237 118 119 0.5 intronic rs2272844 TRABD AU NM_025204 exon7 c.4388-29C>G 0.182308 0.2579 0.167538 0.1783 0.2400 Uncertain 22_50637597_G->C 22 50637597 50637597 G C snp 2200.77 1/1 99 86 0 86 1.0 UTR3 rs8238 TRABD AU 0.564896 0.5605 0.463323 0.5562 0.5820 Uncertain 22_50646860_A->- 22 50646860 50646860 A - indel 197.74 0/1 29 23 4 19 0.83 intronic rs58098510 SELO AU NM_031454 exon3 c.7499-104delA 0.628794 0.6627 Uncertain 22_50646936_G->C 22 50646936 50646936 G C snp 2042.77 1/1 99 67 0 67 1.0 intronic rs5771102 SELO AU NM_031454 exon3 c.7499-28G>C 0.701877 0.7649 0.669692 0.6200 0.7512 Uncertain 22_50647274_C->T 22 50647274 50647274 C T snp 177.9 0/1 15 8 2 6 0.75 intronic rs2272850 SELO AU NM_031454 exon3 c.7680+129C>T 0.0401358 0.122 Uncertain 22_50648577_C->T 22 50648577 50648577 C T snp 522.77 0/1 99 51 31 20 0.39 intronic rs2294401 SELO AU NM_031454 exon4 c.9144-32C>T 0.16274 0.248 0.141412 0.1603 0.2246 Uncertain 22_50654065_G->- 22 50654065 50654065 G - indel 69.73 0/1 99 21 13 8 0.38 intronic rs10605825 SELO AU NM_031454 exon6 c.14680-80delG Uncertain 22_50654428_T->G 22 50654428 50654428 T G snp 109.77 0/1 99 13 8 5 0.38 intronic rs2294402 SELO AU NM_031454 exon6 c.14831+132T>G 0.482428 0.505 Uncertain 22_50655098_A->G 22 50655098 50655098 A G snp 1070.77 1/1 78 36 0 36 1.0 intronic rs2272851 SELO AU NM_031454 exon7 c.15654-21A>G 0.711661 0.7659 0.691466 0.6627 0.7841 Uncertain 22_50656053_T->A 22 50656053 50656053 T A snp 2435.77 0/1 99 194 94 100 0.52 downstream rs2281116 SELO AU 0.168131 0.252 Uncertain 22_50656072_C->A 22 50656072 50656072 C A snp 1891.77 0/1 99 199 114 85 0.43 downstream rs2281117 SELO AU 0.0395367 0.1181 Uncertain 22_50656096_A->G 22 50656096 50656096 A G snp 5658.77 1/1 99 199 0 199 1.0 downstream rs2038050 SELO AU 0.867412 0.8631 Uncertain 22_50657010_C->G 22 50657010 50657010 C G snp 6571.77 1/1 99 243 0 243 1.0 exonic rs4838864 TUBGCP6 AR nonsynonymous SNV NM_020461 exon22 c.G4861C p.V1621L 0.998802 1 0.994695 0.9956 1 1 T 1.000 P -1.016 T 0.003 T 0.003 T Pathogenic 22_50658053_A->G 22 50658053 50658053 A G snp 1821.77 1/1 99 61 0 61 1.0 intronic rs6537642 TUBGCP6 AR NM_020461 exon8 c.1908-19A>G 0.982428 0.999 0.959480 0.9660 0.9999 Uncertain 22_50658494_C->A 22 50658494 50658494 C A snp 1434.77 0/1 99 128 74 54 0.42 intronic rs5771241 TUBGCP6 AR NM_020461 exon9 c.2280+50C>A 0.159345 0.2996 0.114101 0.1647 0.3033 Uncertain 22_50658698_T->A 22 50658698 50658698 T A snp 2200.77 0/1 99 190 90 100 0.53 exonic rs5771107 TUBGCP6 AR nonsynonymous SNV NM_020461 exon16 c.A4090T p.S1364C 0.161542 0.255 0.127249 0.1444 0.2373 0.2 T 0.0 P -0.968 T 0.993 D 0.86 D Pathogenic 22_50664612_A->G 22 50664612 50664612 A G snp 8219.77 1/1 99 250 0 250 1.0 exonic rs4838865 TUBGCP6 AR nonsynonymous SNV NM_020461 exon9 c.T1700C p.L567S 0.858826 0.8492 0.824389 0.7912 0.8369 0.43 T 0.0 P -1.069 T 0.005 T 0.007 T Pathogenic 22_50666210_G->A 22 50666210 50666210 G A snp 43.77 0/1 33 4 1 3 0.75 intronic rs77515604 TUBGCP6 AR NM_020461 exon21 c.10171-125G>A 0.0365415 0.1081 Uncertain 22_50666507_C->T 22 50666507 50666507 C T snp 77.77 0/1 94 6 3 3 0.5 intronic rs55899818 TUBGCP6 AR NM_020461 exon21 c.10293+50C>T 0.175719 0.2798 0.163222 0.2252 0.3237 Uncertain 22_50678620_G->C 22 50678620 50678620 G C snp 727.77 0/1 99 51 27 24 0.47 intronic rs17248329 TUBGCP6 AR NM_020461 exon24 c.22468-12G>C 0.0313498 0.1181 0.005305 0.0205 0.1259 Uncertain 22_50682061_-->AG 22 50682061 50682061 - AG indel 499.73 0/1 99 32 16 16 0.5 intronic TUBGCP6 AR NM_020461 exon25 c.25983-86insAG Uncertain 22_50682064_G->A 22 50682064 50682064 G A snp 471.77 0/1 99 38 18 20 0.53 intronic rs57495517 TUBGCP6 AR NM_020461 exon25 c.25983-83G>A Uncertain 22_50684256_T->C 22 50684256 50684256 T C snp 728.77 0/1 99 59 29 30 0.51 exonic rs75596977 HDAC10 AU nonsynonymous SNV NM_001159286 exon18 c.A1774G p.N592D 0.0533147 0.129 0.016256 0.0404 0.1884 0.08 T 1 D -1.026 T 0.0 T 0.0 T Pathogenic 22_50684296_T->C 22 50684296 50684296 T C snp 1547.77 1/1 99 51 0 51 1.0 intronic rs13058062 HDAC10 AU NM_032019 exon2 c.321+40T>C 0.864217 0.8641 0.805469 0.8183 0.8602 Uncertain 22_50684415_T->C 22 50684415 50684415 T C snp 1064.77 0/1 99 88 41 47 0.53 exonic rs11553697 HDAC10 AU nonsynonymous SNV NM_001159286 exon17 c.A1697G p.Q566R 0.0445288 0.1379 0.007940 0.0411 0.1823 0.06 T 1.000 N -1.042 T 0.003 T 0.004 T Pathogenic 22_50684708_G->A 22 50684708 50684708 G A snp 1484.77 0/1 99 97 41 56 0.58 intronic rs2294404 HDAC10 AU NM_032019 exon4 c.791-18G>A 0.167332 0.249 0.142011 0.1653 0.2261 Uncertain 22_50684747_C->T 22 50684747 50684747 C T snp 1341.77 0/1 99 146 90 56 0.38 exonic rs76578729 HDAC10 AU nonsynonymous SNV NM_001159286 exon16 c.G1570A p.V524I 0.0421326 0.129 0.008765 0.0276 0.1313 0.54 T 1.000 N -1.011 T 0.003 T 0.011 T Pathogenic 22_50684852_G->C 22 50684852 50684852 G C snp 1348.77 0/1 99 144 85 59 0.41 intronic rs77096954 HDAC10 AU NM_032019 exon4 c.870+47G>C 0.0421326 0.129 0.008765 0.0274 0.1309 Uncertain 22_50685508_A->G 22 50685508 50685508 A G snp 652.77 1/1 48 18 0 18 1.0 intronic rs4838866 HDAC10 AU NM_032019 exon6 c.1460+113A>G 0.897165 0.8909 Uncertain 22_50688235_T->C 22 50688235 50688235 T C snp 1610.77 1/1 99 51 0 51 1.0 intronic rs738334 HDAC10 AU NM_032019 exon16 c.4353-53T>C 0.871006 0.8681 Uncertain 22_50688348_A->G 22 50688348 50688348 A G snp 4793.77 1/1 99 167 0 167 1.0 exonic rs1555048 HDAC10 AU synonymous SNV NM_001159286 exon5 c.T435C p.C145C 0.871406 0.8671 0.785308 0.7847 0.8608 Uncertain 22_50689030_A->G 22 50689030 50689030 A G snp 1910.77 1/1 99 56 0 56 1.0 intronic rs909688 HDAC10 AU NM_032019 exon18 c.5017+78A>G 0.795927 0.8681 Uncertain 22_50693479_A->G 22 50693479 50693479 A G snp 667.77 1/1 51 20 0 20 1.0 intronic rs5771281 MAPK12 AU NM_001303252 exon2 c.1796-146A>G 0.865615 0.8661 0.8303 0.8397 Uncertain 22_50693521_C->T 22 50693521 50693521 C T snp 1493.77 1/1 74 51 1 50 0.98 intronic rs5771282 MAPK12 AU NM_001303252 exon2 c.1796-104C>T 0.777157 0.7659 0.7012 0.6930 Uncertain 22_50693534_A->G 22 50693534 50693534 A G snp 1907.77 1/1 99 66 1 65 0.98 intronic rs6010218 MAPK12 AU NM_001303252 exon2 c.1796-91A>G 0.794529 0.7708 0.6856 0.6924 Uncertain 22_50693538_G->A 22 50693538 50693538 G A snp 2059.77 1/1 99 71 1 70 0.99 intronic rs6010219 MAPK12 AU NM_001303252 exon2 c.1796-87G>A 0.834465 0.8651 0.7029 0.7592 Uncertain 22_50693554_A->G 22 50693554 50693554 A G snp 2990.77 1/1 99 98 1 97 0.99 intronic rs6010220 MAPK12 AU NM_001303252 exon2 c.1796-71A>G 0.865415 0.8661 0.6768 0.7392 Uncertain 22_50694297_A->G 22 50694297 50694297 A G snp 3524.77 1/1 99 127 0 127 1.0 exonic rs1129880 MAPK12 AU synonymous SNV NM_001303252 exon7 c.T603C p.S201S 0.844649 0.869 0.757732 0.7746 0.8624 Uncertain 22_50695270_A->C 22 50695270 50695270 A C snp 1227.77 1/1 90 36 0 36 1.0 intronic rs5771284 MAPK12 AU NM_002969 exon8 c.3534-93A>C 0.849042 0.87 Uncertain 22_50696662_C->T 22 50696662 50696662 C T snp 4922.77 1/1 99 183 1 182 0.99 intronic rs73187284 MAPK12 AU NM_001303252 exon9 c.4842-9C>T 0.279752 0.4058 0.275531 0.3248 0.4065 Uncertain 22_50705466_A->G 22 50705466 50705466 A G snp 5400.77 1/1 99 184 0 184 1.0 exonic rs760748 MAPK11 AU synonymous SNV NM_002751 exon7 c.T507C p.F169F 0.999002 1 0.995384 0.9969 1 Uncertain 22_50708594_C->T 22 50708594 50708594 C T snp 396.77 0/1 99 47 26 21 0.45 intronic rs34355047 MAPK11 AU NM_002751 exon12 c.5229-11C>T 0.114018 0.1736 0.131445 0.3844 0.3637 Uncertain 22_50708731_A->G 22 50708731 50708731 A G snp 698.77 0/1 99 62 28 34 0.55 UTR5 rs9617050 MAPK11 AU 0.453874 0.4048 0.5310 0.4898 Uncertain 22_50713866_G->C 22 50713866 50713866 G C snp 2031.77 1/1 99 77 0 77 1.0 UTR3 rs1042979 PLXNB2 AU 0.995807 1 0.9941 1 Uncertain 22_50714289_T->C 22 50714289 50714289 T C snp 1664.77 0/1 99 188 111 77 0.41 intronic rs5771118 PLXNB2 AU NM_012401 exon2 c.185-28T>C 0.738419 0.6329 0.782396 0.7344 0.6374 Uncertain 22_50714521_C->T 22 50714521 50714521 C T snp 74.77 0/1 99 7 4 3 0.43 intronic PLXNB2 AU NM_012401 exon2 c.260+129C>T Uncertain 22_50715029_T->C 22 50715029 50715029 T C snp 4197.77 1/1 99 154 0 154 1.0 intronic rs5771119 PLXNB2 AU NM_012401 exon3 c.925-28T>C 0.987819 0.998 0.970696 0.9744 1 Uncertain 22_50715421_C->T 22 50715421 50715421 C T snp 286.77 0/1 99 22 10 12 0.55 intronic PLXNB2 AU NM_012401 exon4 c.1203+86C>T Uncertain 22_50715973_G->T 22 50715973 50715973 G T snp 1770.77 1/1 99 53 0 53 1.0 intronic rs28637964 PLXNB2 AU NM_012401 exon5 c.1887-46G>T 0.442093 0.5387 0.442246 0.4877 0.5610 Uncertain 22_50716167_G->A 22 50716167 50716167 G A snp 5121.77 1/1 99 202 3 199 0.99 exonic rs1127000 PLXNB2 AU synonymous SNV NM_012401 exon33 c.C5049T p.S1683S 0.497404 0.6062 0.476262 0.5560 0.6258 0 D 1.0 P -0.964 T Likely benign 22_50717129_T->G 22 50717129 50717129 T G snp 2598.77 1/1 99 93 0 93 1.0 splicing rs28718510 PLXNB2 AU NM_012401 exon9 c.2993+4T>G 0.509784 0.6101 0.488939 0.5764 0.6453 Pathogenic 22_50717547_T->C 22 50717547 50717547 T C snp 276.77 0/1 99 28 18 10 0.36 intronic rs28633213 PLXNB2 AU NM_012401 exon10 c.3308+107T>C 0.507188 0.3403 Uncertain 22_50718397_A->G 22 50718397 50718397 A G snp 3679.77 1/1 99 123 0 123 1.0 intronic rs28611220 PLXNB2 AU NM_012401 exon12 c.4301-36A>G 0.621006 0.6885 0.601162 0.6101 0.6989 Uncertain 22_50719165_T->C 22 50719165 50719165 T C snp 727.77 0/1 99 42 17 25 0.6 intronic rs28540713 PLXNB2 AU NM_012401 exon14 c.5040-7T>C 0.563898 0.4226 0.567443 0.5917 0.4934 Uncertain 22_50719251_A->G 22 50719251 50719251 A G snp 4714.77 1/1 99 177 0 177 1.0 exonic rs11547734 PLXNB2 AU synonymous SNV NM_012401 exon24 c.T3915C p.P1305P 0.616414 0.6111 0.606475 0.5969 0.6259 Uncertain 22_50720181_C->G 22 50720181 50720181 C G snp 2202.77 0/1 99 167 80 87 0.52 intronic rs28442189 PLXNB2 AU NM_012401 exon17 c.6039+10C>G 0.372404 0.2738 0.396847 0.4246 0.3093 Uncertain 22_50720622_C->T 22 50720622 50720622 C T snp 3515.77 0/1 99 248 116 132 0.53 exonic rs11547728 PLXNB2 AU synonymous SNV NM_012401 exon19 c.G3108A p.Q1036Q 0.381589 0.2688 0.425485 0.4409 0.2992 Uncertain 22_50722134_T->C 22 50722134 50722134 T C snp 2733.77 0/1 99 249 137 112 0.45 exonic rs11547731 PLXNB2 AU nonsynonymous SNV NM_012401 exon15 c.A2467G p.I823V 0.654353 0.5813 0.683470 0.6374 0.5889 0.11 T 0.997 P -0.942 T 0.999 D 0.998 D Pathogenic 22_50722939_-->C 22 50722939 50722939 - C indel 788.73 0/1 99 64 34 30 0.47 intronic rs146267024 PLXNB2 AU NM_012401 exon26 c.8869-62insC 0.168331 0.3849 Uncertain 22_50724172_-->C 22 50724172 50724172 - C indel 160.73 0/1 88 9 3 6 0.67 intronic rs397934936 PLXNB2 AU NM_012401 exon27 c.10096-56insC 0.441294 0.3859 Uncertain 22_50724190_G->T 22 50724190 50724190 G T snp 195.77 0/1 99 12 5 7 0.58 intronic rs28604596 PLXNB2 AU NM_012401 exon27 c.10096-38G>T 0.616813 0.4841 0.4870 0.3612 Uncertain 22_50724733_G->T 22 50724733 50724733 G T snp 418.77 0/1 99 58 37 21 0.36 intronic rs55709850 PLXNB2 AU NM_012401 exon29 c.10584+17G>T 0.243211 0.2887 0.275093 0.2515 0.3189 Uncertain 22_50725553_T->C 22 50725553 50725553 T C snp 1060.77 0/1 99 87 41 46 0.53 exonic rs28513473 PLXNB2 AU synonymous SNV NM_012401 exon8 c.A1749G p.T583T 0.148562 0.3095 0.092512 0.1446 0.3893 Uncertain 22_50727921_T->C 22 50727921 50727921 T C snp 1089.77 1/1 78 42 0 42 1.0 intronic rs28578714 PLXNB2 AU NM_012401 exon35 c.13813-24T>C 0.391573 0.5714 0.383470 0.4395 0.6363 Uncertain 22_50728062_T->C 22 50728062 50728062 T C snp 2829.77 1/1 99 109 0 109 1.0 exonic rs28379706 PLXNB2 AU nonsynonymous SNV NM_012401 exon3 c.A952G p.K318E 0.454073 0.5734 0.451972 0.3817 0.5994 1 T 0.0 P -0.981 T 0.0 T 0.002 T Pathogenic 22_50750835_G->A 22 50750835 50750835 G A snp 1222.77 0/1 99 137 80 57 0.42 exonic rs117291362 DENND6B AU synonymous SNV NM_001001794 exon19 c.C1572T p.T524T 0.0263578 0.0893 0.012884 0.0228 0.1087 Uncertain 22_50751529_G->C 22 50751529 50751529 G C snp 1278.77 0/1 99 116 60 56 0.48 exonic rs67248662 DENND6B AU synonymous SNV NM_001001794 exon17 c.C1356G p.P452P 0.30651 0.2669 0.259048 0.3519 0.2840 Uncertain 22_50752150_C->T 22 50752150 50752150 C T snp 1361.77 0/1 99 103 41 62 0.6 exonic rs68178377 DENND6B AU nonsynonymous SNV NM_001001794 exon15 c.G1207A p.V403M 0.28095 0.1994 0.267391 0.3661 0.2417 0.31 T 0.000 P -0.962 T 0.101 T 0.006 T Pathogenic 22_50752169_G->A 22 50752169 50752169 G A snp 1396.77 0/1 99 114 47 67 0.59 intronic rs73891220 DENND6B AU NM_001001794 exon6 c.1586+16G>A 0.329872 0.2708 0.289917 0.3932 0.2911 Uncertain 22_50753334_G->A 22 50753334 50753334 G A snp 1083.77 0/1 99 86 39 47 0.55 exonic rs73439311 DENND6B AU synonymous SNV NM_001001794 exon10 c.C775T p.L259L 0.3752 0.2956 0.345371 0.3973 0.2722 Uncertain 22_50753973_T->C 22 50753973 50753973 T C snp 88.77 0/1 99 13 9 4 0.31 intronic rs62241228 DENND6B AU NM_001001794 exon12 c.3575-169T>C 0.35603 0.2877 Uncertain 22_50754053_ACTC->- 22 50754053 50754056 ACTC - indel 992.73 0/1 99 53 36 17 0.32 intronic rs71964200 DENND6B AU NM_001001794 exon12 c.3575-89_3575-86delACTC 0.356829 0.2907 Uncertain 22_50754363_A->G 22 50754363 50754363 A G snp 509.77 1/1 39 13 0 13 1.0 intronic rs35812349 DENND6B AU NM_001001794 exon13 c.3886-90A>G 0.498602 0.3879 Uncertain 22_50754466_C->T 22 50754466 50754466 C T snp 747.77 0/1 99 67 34 33 0.49 exonic rs62241230 DENND6B AU synonymous SNV NM_001001794 exon8 c.G690A p.Q230Q 0.34405 0.2679 0.308363 0.3565 0.2450 1.000 P -0.963 T Likely benign 22_50754512_C->T 22 50754512 50754512 C T snp 1387.77 0/1 99 107 55 52 0.49 exonic rs11553143 DENND6B AU nonsynonymous SNV NM_001001794 exon8 c.G644A p.R215H 0.0517173 0.0903 0.037737 0.0287 0.1005 0.63 T 0.918 D -1.033 T 0.009 T 0.003 T Pathogenic 22_50754648_T->C 22 50754648 50754648 T C snp 5280.77 1/1 99 178 0 178 1.0 exonic rs11553141 DENND6B AU synonymous SNV NM_001001794 exon7 c.A594G p.A198A 0.463023 0.4995 0.4230 1.000 P -0.912 T Likely benign 22_50757365_T->C 22 50757365 50757365 T C snp 3065.77 0/1 99 250 113 137 0.55 intronic rs117044665 DENND6B AU NM_001001794 exon19 c.6826-28T>C 0.028155 0.0913 0.016106 0.0279 0.1229 Uncertain 22_50757470_T->C 22 50757470 50757470 T C snp 5144.77 1/1 99 187 0 187 1.0 intronic rs67488807 DENND6B AU NM_001001794 exon19 c.6865+38T>C 0.545527 0.4454 0.513299 0.5367 0.5300 0.000 P -0.981 T Uncertain 22_50757541_T->C 22 50757541 50757541 T C snp 1087.77 0/1 99 63 22 41 0.65 intronic rs62241233 DENND6B AU NM_001001794 exon19 c.6865+109T>C 0.373203 0.3234 0.4333 0.3689 Uncertain 22_50757579_C->A 22 50757579 50757579 C A snp 272.77 0/1 99 26 16 10 0.38 intronic rs146031404 DENND6B AU NM_001001794 exon19 c.6865+147C>A 0.0497204 0.1002 Uncertain 22_50853133_C->- 22 50853133 50853133 C - indel 787.73 1/1 72 29 0 29 1.0 intronic rs60172550 PPP6R2 AU NM_001242898 exon5 c.20781+15delC 0.488618 0.7649 0.378437 0.4204 0.7616 Uncertain 22_50853134_C->T 22 50853134 50853134 C T snp 748.77 0/1 60 29 5 24 0.83 intronic rs115621755 PPP6R2 AU NM_001242898 exon5 c.20781+16C>T 0.398163 0.6925 0.3984 0.7150 Uncertain 22_50854317_T->C 22 50854317 50854317 T C snp 254.8 1/1 21 7 0 7 1.0 intronic rs6520165 PPP6R2 AU NM_001242898 exon6 c.22183-203T>C 0.467053 0.6925 Uncertain 22_50857140_G->A 22 50857140 50857140 G A snp 258.8 1/1 21 7 0 7 1.0 intronic rs7293044 PPP6R2 AU NM_001242898 exon7 c.24958-155G>A 0.805511 0.8512 Uncertain 22_50857613_T->G 22 50857613 50857613 T G snp 50.74 1/1 6 2 0 2 1.0 intronic rs11091015 PPP6R2 AU NM_001242899 exon8 c.25437-161T>G 0.400559 0.6915 Uncertain 22_50860565_G->A 22 50860565 50860565 G A snp 1079.77 1/1 81 32 0 32 1.0 intronic rs9616844 PPP6R2 AU NM_001242898 exon9 c.28345-117G>A 0.461062 0.6915 Uncertain 22_50860573_T->C 22 50860573 50860573 T C snp 1380.77 1/1 99 41 0 41 1.0 intronic rs12163227 PPP6R2 AU NM_001242898 exon9 c.28345-109T>C 0.192292 0.4375 Uncertain 22_50860583_T->C 22 50860583 50860583 T C snp 1894.77 1/1 99 60 0 60 1.0 intronic rs12163230 PPP6R2 AU NM_001242898 exon9 c.28345-99T>C 0.189297 0.4355 Uncertain 22_50870620_G->T 22 50870620 50870620 G T snp 1450.77 1/1 99 57 0 57 1.0 intronic rs2076712 PPP6R2 AU NM_001242898 exon12 c.38356-73G>T 0.388778 0.6726 Uncertain 22_50876077_T->C 22 50876077 50876077 T C snp 5680.77 1/1 99 201 0 201 1.0 intronic rs9306550 PPP6R2 AU NM_001242898 exon16 c.43695+45T>C 0.831669 0.9593 0.784792 0.7698 0.9699 Uncertain 22_50876235_T->C 22 50876235 50876235 T C snp 7830.77 1/1 99 250 0 250 1.0 intronic rs5770779 PPP6R2 AU NM_001242898 exon17 c.43934-36T>C 0.730631 0.9494 0.709780 0.6867 0.9474 Uncertain 22_50876357_C->G 22 50876357 50876357 C G snp 7104.77 1/1 99 228 0 228 1.0 intronic rs5770890 PPP6R2 AU NM_001242898 exon17 c.43992+28C>G 0.619808 0.8522 0.557946 0.6409 0.8499 Uncertain 22_50876755_C->T 22 50876755 50876755 C T snp 3301.77 1/1 99 112 0 112 1.0 intronic rs2070273 PPP6R2 AU NM_001242898 exon18 c.44390+28C>T 0.176518 0.4286 0.071824 0.1444 0.4146 Uncertain 22_50877166_G->C 22 50877166 50877166 G C snp 4041.77 1/1 99 164 1 163 0.99 exonic rs4824131 PPP6R2 AU synonymous SNV NM_001242899 exon18 c.G2025C p.A675A 0.669129 0.9345 0.590839 0.6821 0.9386 Uncertain 22_50885775_A->G 22 50885775 50885775 A G snp 2734.77 0/1 99 250 125 125 0.5 exonic rs1053744 SBF1 AR synonymous SNV NM_002972 exon40 c.T5559C p.T1853T 0.500998 0.4673 0.523318 0.5176 0.4513 1.000 P -0.923 T Likely benign 22_50885894_CA->- 22 50885894 50885895 CA - indel 7120.73 1/1 99 155 0 155 1.0 intronic rs398037414 SBF1 AR NM_002972 exon2 c.312+12_312+13delCA 0.41274 0.7798 0.335662 0.4249 0.7776 Uncertain 22_50886557_A->G 22 50886557 50886557 A G snp 56.74 1/1 6 2 0 2 1.0 intronic rs6010041 SBF1 AR NM_002972 exon4 c.1091-104A>G 0.936102 0.996 Uncertain 22_50886944_G->A 22 50886944 50886944 G A snp 2911.77 0/1 99 250 127 123 0.49 intronic rs74598385 SBF1 AR NM_002972 exon5 c.1401-27G>A 0.14976 0.374 0.042875 0.1134 0.3978 Uncertain 22_50894849_G->A 22 50894849 50894849 G A snp 598.77 0/1 99 40 15 25 0.63 intronic rs2076713 SBF1 AR NM_002972 exon11 c.9254+25G>A 0.138778 0.2728 0.109094 0.1465 0.2762 Uncertain 22_50895020_C->T 22 50895020 50895020 C T snp 1876.77 1/1 99 78 0 78 1.0 exonic rs5771001 SBF1 AR synonymous SNV NM_002972 exon30 c.G3987A p.A1329A 0.309305 0.7133 0.159173 0.3831 0.7331 Uncertain 22_50895133_A->G 22 50895133 50895133 A G snp 626.77 0/1 99 60 34 26 0.43 intronic rs4824117 SBF1 AR NM_002972 exon12 c.9532+31A>G 0.619808 0.4335 0.743218 0.7083 0.4888 Uncertain 22_50897868_G->A 22 50897868 50897868 G A snp 937.77 0/1 99 72 33 39 0.54 intronic rs2281439 SBF1 AR NM_002972 exon15 c.12328-30G>A 0.186502 0.2629 0.176576 0.1904 0.2747 Uncertain 22_50898026_G->A 22 50898026 50898026 G A snp 641.77 0/1 99 71 41 30 0.42 exonic rs58335489 SBF1 AR synonymous SNV NM_002972 exon27 c.C3561T p.Y1187Y 0.189497 0.4524 0.056148 0.1447 0.4596 Uncertain 22_50898619_G->A 22 50898619 50898619 G A snp 2304.77 0/1 99 200 101 99 0.49 intronic rs2073278 SBF1 AR NM_002972 exon16 c.13018+31G>A 0.365016 0.5506 0.296798 0.3602 0.5496 Uncertain 22_50899756_G->- 22 50899756 50899756 G - indel 872.73 0/1 99 62 20 42 0.68 intronic rs35628474 SBF1 AR NM_002972 exon19 c.14145+41delG 0.605631 0.6815 0.6536 0.6367 Uncertain 22_50901009_C->T 22 50901009 50901009 C T snp 838.77 0/1 99 73 37 36 0.49 exonic rs5771037 SBF1 AR synonymous SNV NM_002972 exon18 c.G2106A p.T702T 0.168131 0.4425 0.046032 0.1292 0.4452 Uncertain 22_50901259_G->C 22 50901259 50901259 G C snp 983.77 0/1 99 77 33 44 0.57 intronic rs9617014 SBF1 AR NM_002972 exon25 c.15728-39G>C 0.135982 0.2758 0.1407 0.2727 Uncertain 22_50901534_A->G 22 50901534 50901534 A G snp 301.78 1/1 24 8 0 8 1.0 intronic rs5771039 SBF1 AR NM_002972 exon25 c.15797+167A>G 0.8123 0.9554 Uncertain 22_50902751_C->T 22 50902751 50902751 C T snp 1402.77 0/1 99 105 47 58 0.55 intronic rs5771041 SBF1 AR NM_002972 exon27 c.17187-6C>T 0.184704 0.4544 0.056087 0.1302 0.4479 Uncertain 22_50903221_C->T 22 50903221 50903221 C T snp 1153.77 0/1 99 124 72 52 0.42 intronic rs2076714 SBF1 AR NM_002972 exon29 c.17677-26C>T 0.533946 0.5595 0.545891 0.5336 0.5567 Uncertain 22_50913395_GCG->- 22 50913395 50913397 GCG - indel 269.8 1/1 18 11 0 11 1.0 UTR5 rs373485644 SBF1 AR 0.733626 0.9524 0.833333 0.2860 . Uncertain 22_50913429_T->C 22 50913429 50913429 T C snp 143.03 1/1 12 6 0 6 1.0 UTR5 rs4824154 SBF1 AR 0.724641 0.8631 0.4257 . 0.68 T 0.000 P -0.974 T Uncertain 22_50925098_G->A 22 50925098 50925098 G A snp 121.77 0/1 99 12 6 6 0.5 upstream;downstream rs2232873 MIOX;ADM2 UN 0.293331 0.4335 Uncertain 22_50925405_C->T 22 50925405 50925405 C T snp 960.77 0/1 99 82 43 39 0.48 intronic rs2232876 MIOX AU NM_017584 exon1 c.15+64C>T 0.375599 0.4554 0.254601 Uncertain 22_50925433_CCT->- 22 50925433 50925435 CCT - indel 748.73 0/1 99 47 20 27 0.57 intronic rs145924823 MIOX AU NM_017584 exon1 c.15+92_15+94delCCT 0.269569 0.4296 0.113945 Uncertain 22_50925672_T->C 22 50925672 50925672 T C snp 1963.77 1/1 99 70 0 70 1.0 intronic rs2232878 MIOX AU NM_017584 exon2 c.487-141T>C 0.966254 0.9613 Uncertain 22_50925997_C->A 22 50925997 50925997 C A snp 1235.77 0/1 99 94 48 46 0.49 intronic rs3747273 MIOX AU NM_017584 exon3 c.764-93C>A 0.202077 0.3373 Uncertain 22_50926894_C->T 22 50926894 50926894 C T snp 83.77 0/1 30 5 2 3 0.6 intronic rs74714772 MIOX AU NM_017584 exon5 c.1445+123C>T 0.3127 0.4315 Uncertain 22_50927447_-->GTCCCTCCT 22 50927447 50927447 - GTCCCTCCT indel 4085.73 1/1 99 40 0 40 1.0 intronic rs139170143 MIOX AU NM_017584 exon6 c.2142-21insGTCCCTCCT 0.521366 0.6905 0.488807 0.4848 0.7910 Uncertain 22_50928026_G->A 22 50928026 50928026 G A snp 992.77 0/1 99 95 52 43 0.45 exonic rs2232885 MIOX AU synonymous SNV NM_017584 exon9 c.G702A p.L234L 0.197484 0.3125 0.193635 0.2166 0.3142 Uncertain 22_50941985_T->C 22 50941985 50941985 T C snp 2055.77 1/1 99 71 0 71 1.0 exonic rs6009975 LMF2 AU synonymous SNV NM_033200 exon14 c.A1959G p.Q653Q 0.838059 0.753 0.908384 0.8841 0.7483 0.000 P -1.037 T Likely benign 22_50942667_C->T 22 50942667 50942667 C T snp 133.03 1/1 12 4 0 4 1.0 intronic LMF2 AU NM_033200 exon3 c.949-101C>T Uncertain 22_50944163_G->A 22 50944163 50944163 G A snp 6140.77 1/1 99 229 1 228 1.0 exonic rs128941 LMF2 AU synonymous SNV NM_033200 exon6 c.C856T p.L286L 0.555511 0.7361 0.523528 0.6071 0.7494 1.0 P -1.010 T Likely benign 22_50946965_T->C 22 50946965 50946965 T C snp 141.03 1/1 12 4 0 4 1.0 intronic rs131823 NCAPH2 AU NM_014551 exon1 c.108+91T>C 0.96865 0.999 Uncertain 22_50957462_C->T 22 50957462 50957462 C T snp 345.78 1/1 27 9 0 9 1.0 intronic rs131816 NCAPH2 AU NM_014551 exon9 c.10852-156C>T 0.826677 0.9583 Uncertain 22_50957520_G->A 22 50957520 50957520 G A snp 1060.77 1/1 75 39 0 39 1.0 intronic rs3091397 NCAPH2 AU NM_014551 exon9 c.10852-98G>A 0.827077 0.9623 Uncertain 22_50960101_G->A 22 50960101 50960101 G A snp 6767.77 1/1 99 250 0 250 1.0 intronic rs131814 NCAPH2 AU NM_152299 exon11 c.13272+63G>A 0.650958 0.6627 0.626588 Uncertain 22_50961169_A->G 22 50961169 50961169 A G snp 3318.77 1/1 99 115 0 115 1.0 intronic rs131813 NCAPH2 AU NM_152299 exon17 c.14383+20A>G 0.881789 0.9653 0.817238 0.8306 0.9546 Uncertain 22_50961365_G->A 22 50961365 50961365 G A snp 1870.77 0/1 99 149 72 77 0.52 intronic rs78417868 NCAPH2 AU NM_152299 exon18 c.14585+14G>A 0.00239617 0.0109 0.000154 0.0020 0.0140 Uncertain 22_50961854_T->C 22 50961854 50961854 T C snp 1400.77 1/1 99 46 0 46 1.0 UTR3 rs2782 NCAPH2 AU 0.652556 0.6677 0.641082 0.6634 0.6633 Uncertain 22_50962208_T->G 22 50962208 50962208 T G snp 5317.77 1/1 99 200 0 200 1.0 exonic rs12148 SCO2 AR,AD synonymous SNV NM_005138 exon2 c.A633C p.A211A 0.655551 0.6677 0.635091 0.6383 0.6977 CLINSIG=non-pathogenic;CLNDBN=not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000128016.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Uncertain 22_50962782_C->G 22 50962782 50962782 C G snp 4771.77 1/1 99 157 0 157 1.0 exonic rs140523 SCO2 AR,AD nonsynonymous SNV NM_005138 exon2 c.G59C p.R20P 0.651558 0.6677 0.630693 0.6393 0.6989 0.29 T 0.0 P -0.992 T 0.0 T 0.0 T CLINSIG=non-pathogenic;CLNDBN=not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000128012.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Pathogenic 22_50964153_T->C 22 50964153 50964153 T C snp 2170.77 1/1 99 77 0 77 1.0 upstream;downstream rs131805 SCO2;NCAPH2 UN 0.883986 0.9653 0.839739 0.8394 0.9554 Uncertain 22_50964741_G->C 22 50964741 50964741 G C snp 524.77 0/1 99 54 30 24 0.44 exonic TYMP AR nonsynonymous SNV NM_001953 exon8 c.C1093G p.P365A 0.5 T 0.600 D 0.379 D 0.263 T 0.017 T Pathogenic 22_50964862_G->A 22 50964862 50964862 G A snp 706.77 1/1 51 26 0 26 1.0 exonic rs131804 TYMP AR synonymous SNV NM_001953 exon8 c.C972T p.A324A 0.532947 0.6558 0.630485 0.6721 0.7800 CLINSIG=non-pathogenic;CLNDBN=not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000126200.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Uncertain 22_50966914_T->C 22 50966914 50966914 T C snp 2515.77 1/1 99 93 0 93 1.0 intronic rs470119 TYMP AR NM_001257989 exon7 c.2742-26T>C 0.554712 0.6677 0.528457 0.6184 0.6979 Uncertain 22_50988062_G->T 22 50988062 50988062 G T snp 7373.77 1/1 99 247 0 247 1.0 exonic rs140519 KLHDC7B AU synonymous SNV NM_138433 exon1 c.G1467T p.V489V 0.405152 0.5784 0.396401 0.4772 0.6308 Uncertain 22_50988193_A->G 22 50988193 50988193 A G snp 4303.77 1/1 99 140 0 140 1.0 exonic rs131779 KLHDC7B AU nonsynonymous SNV NM_138433 exon1 c.A1598G p.H533R 0.580272 0.5942 0.623974 0.6471 0.6603 0.42 T 0.109 P -1.030 T 0.0 T 0.001 T Pathogenic 22_51009953_C->T 22 51009953 51009953 C T snp 4108.77 1/1 99 153 0 153 1.0 exonic rs470117 CPT1B AU nonsynonymous SNV NM_004377 exon14 c.G1591A p.E531K 0.334864 0.4593 0.355528 0.4204 0.4557 0.15 T 1.000 P -1.118 T 0.966 D 0.503 D ID=CM070885;DIS=Obesity, modifier of risk, association with;TAG=DP;PUB=17089095 DP Pathogenic 22_51010788_T->A 22 51010788 51010788 T A snp 1498.77 1/1 99 56 0 56 1.0 ncRNA_intronic rs131761 CHKB-CPT1B AU 0.906949 0.9871 0.827822 0.8295 0.9857 Uncertain 22_51011936_T->C 22 51011936 51011936 T C snp 3291.77 1/1 99 111 0 111 1.0 ncRNA_intronic rs131760 CHKB-CPT1B AU 0.807308 0.9732 0.685376 0.7263 0.9777 Uncertain 22_51015210_G->C 22 51015210 51015210 G C snp 2186.77 1/1 99 72 1 71 0.99 ncRNA_intronic rs140515 CHKB-CPT1B AU 0.00399361 Uncertain 22_51015481_G->A 22 51015481 51015481 G A snp 1684.77 1/1 99 46 0 46 1.0 ncRNA_intronic rs131759 CHKB-CPT1B AU 0.339657 0.4623 0.361372 0.4367 0.4553 ID=CS071204;DIS=Obesity, modifier of risk, association with;TAG=DP;PUB=17089095 DP Uncertain 22_51018579_A->G 22 51018579 51018579 A G snp 1845.77 1/1 99 72 0 72 1.0 ncRNA_intronic rs140514 CHKB-CPT1B AU 0.344848 0.4683 0.368292 0.4375 0.4668 Uncertain 22_51020668_C->A 22 51020668 51020668 C A snp 434.77 1/1 33 18 0 18 1.0 ncRNA_intronic rs86337 CHKB-CPT1B AU 0.703275 0.9653 0.569395 0.7007 0.9685 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000116702.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 22_51039317_C->T 22 51039317 51039317 C T snp 818.77 0/1 99 85 42 43 0.51 splicing rs75209192 MAPK8IP2 AU NM_012324 exon1 c.65+5C>T 0.100439 0.2669 0.030054 0.1395 0.3907 Pathogenic 22_51042032_G->T 22 51042032 51042032 G T snp 2960.77 0/1 99 250 126 124 0.5 intronic rs6010025 MAPK8IP2 AU NM_012324 exon4 c.2807-22G>T 0.162141 0.2808 0.107039 0.1984 0.3540 Uncertain 22_51042034_C->G 22 51042034 51042034 C G snp 3055.77 0/1 99 250 129 121 0.48 intronic rs6009938 MAPK8IP2 AU NM_012324 exon4 c.2807-20C>G 0.162141 0.2808 0.104555 0.1991 0.3553 Uncertain 22_51042513_-->G 22 51042513 51042513 - G indel 6247.73 1/1 99 141 0 141 1.0 exonic rs140511 MAPK8IP2 AU unknown 1 1 0.995883 1 1 Uncertain 22_51043278_G->A 22 51043278 51043278 G A snp 1143.77 1/1 84 36 0 36 1.0 exonic rs3219201 MAPK8IP2 AU unknown 0.638578 0.8492 0.576141 0.7264 0.8310 Uncertain 22_51045190_C->T 22 51045190 51045190 C T snp 2468.77 1/1 99 85 0 85 1.0 exonic rs1140555 MAPK8IP2 AU unknown 0.617013 0.8393 0.566033 0.6448 0.8159 Uncertain 22_51045433_C->T 22 51045433 51045433 C T snp 2074.77 1/1 99 70 0 70 1.0 intronic rs131736 MAPK8IP2 AU NM_012324 exon10 c.6172+14C>T 0.622604 0.8393 0.579681 0.6272 0.8178 Uncertain 22_51045480_G->A 22 51045480 51045480 G A snp 943.77 1/1 78 40 0 40 1.0 intronic rs131735 MAPK8IP2 AU NM_012324 exon10 c.6172+61G>A 0.573482 0.8393 0.517521 Uncertain 22_51048059_A->G 22 51048059 51048059 A G snp 54.74 1/1 6 2 0 2 1.0 intronic rs965618 MAPK8IP2 AU NM_012324 exon11 c.9392-580A>G 0.694289 0.8204 Uncertain 22_51048781_T->G 22 51048781 51048781 T G snp 2391.77 1/1 99 75 0 75 1.0 intronic rs5770941 MAPK8IP2 AU NM_012324 exon11 c.9491+43T>G 0.813299 0.9831 0.731462 0.7622 0.9820 Uncertain 22_51048812_G->C 22 51048812 51048812 G C snp 206.77 0/1 99 20 13 7 0.35 intronic rs9616798 MAPK8IP2 AU NM_012324 exon11 c.9491+74G>C 0.285543 0.2996 Uncertain 22_51063987_G->C 22 51063987 51063987 G C snp 4692.77 1/1 99 178 0 178 1.0 intronic rs762674 ARSA AR NM_001085427 exon2 c.434-19G>C 0.819089 0.9752 0.749923 0.7977 0.9746 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000078938.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain 22_51064039_G->C 22 51064039 51064039 G C snp 2365.77 0/1 99 225 117 108 0.48 exonic rs743616 ARSA AR nonsynonymous SNV NM_000487 exon7 c.C1178G p.T393S 0.405551 0.3214 0.484084 0.4843 0.2984 0.42 T 0.0 P -1.017 T 0.0 T 0.0 T CLINSIG=pathogenic|non-pathogenic;CLNDBN=Metachromatic_leukodystrophy|not_specified;CLNREVSTAT=no_assertion_criteria_provided|criteria_provided\x2c_single_submitter;CLNACC=RCV000020311.1|RCV000078937.3;CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT|MedGen;CLNDSDBID=NBK1130:C0023522:250100:ORPHA512:396338004|CN169374 ID=CM910052;DIS=Phenotype modifier, association with;TAG=DP;PUB=11941485 DP Pathogenic 22_51064141_G->A 22 51064141 51064141 G A snp 3581.77 1/1 99 126 0 126 1.0 intronic rs762673 ARSA AR NM_001085427 exon2 c.537+32G>A 0.800719 0.9752 0.732759 0.7984 0.9760 Uncertain 22_51064239_G->A 22 51064239 51064239 G A snp 187.77 0/1 99 12 5 7 0.58 intronic rs6151423 ARSA AR NM_001085427 exon3 c.791-124G>A 0.095647 0.2649 Uncertain 22_51064818_T->C 22 51064818 51064818 T C snp 1350.77 1/1 99 37 0 37 1.0 intronic rs762672 ARSA AR NM_001085427 exon4 c.1134+112T>C 0.84345 0.9752 Uncertain 22_51117766_T->C 22 51117766 51117766 T C snp 390.77 0/1 99 171 139 32 0.19 exonic rs73172298 SHANK3 AU,AO synonymous SNV NM_033517 exon7 c.T795C p.H265H Uncertain 22_51117787_T->C 22 51117787 51117787 T C snp 389.77 0/1 99 167 134 33 0.2 exonic rs73172299 SHANK3 AU,AO synonymous SNV NM_033517 exon7 c.T816C p.Y272Y ID=COSM330407;OCCURENCE=1(haematopoietic_and_lymphoid_tissue) Likely pathogenic 22_51117800_G->A 22 51117800 51117800 G A snp 386.77 0/1 99 166 134 32 0.19 exonic SHANK3 AU,AO nonsynonymous SNV NM_033517 exon7 c.G829A p.G277R 0.16 T 0.938 N -1.088 T 0.002 T 0.011 T Pathogenic 22_51117802_G->T 22 51117802 51117802 G T snp 381.77 0/1 99 166 135 31 0.19 exonic rs199640422 SHANK3 AU,AO synonymous SNV NM_033517 exon7 c.G831T p.G277G Uncertain 22_51117811_C->T 22 51117811 51117811 C T snp 378.77 0/1 99 162 132 30 0.19 exonic rs200400333 SHANK3 AU,AO synonymous SNV NM_033517 exon7 c.C840T p.N280N 2.574e-05 0 Uncertain 22_51117826_A->G 22 51117826 51117826 A G snp 295.77 0/1 99 155 129 26 0.17 exonic rs201539119 SHANK3 AU,AO synonymous SNV NM_033517 exon7 c.A855G p.T285T Uncertain 22_51117830_C->T 22 51117830 51117830 C T snp 298.77 0/1 99 156 131 25 0.16 exonic rs199499215 SHANK3 AU,AO synonymous SNV NM_033517 exon7 c.C859T p.L287L Uncertain 22_51117841_T->C 22 51117841 51117841 T C snp 288.77 0/1 99 155 130 25 0.16 exonic rs202089750 SHANK3 AU,AO synonymous SNV NM_033517 exon7 c.T870C p.C290C ID=COSM330408;OCCURENCE=2(haematopoietic_and_lymphoid_tissue) Likely pathogenic 22_51133580_C->A 22 51133580 51133580 C A snp 86.77 0/1 30 4 1 3 0.75 intronic rs2341009 SHANK3 AU,AO NM_033517 exon10 c.20407+104C>A 0.729034 0.6181 Uncertain 22_51135451_G->C 22 51135451 51135451 G C snp 83.77 0/1 72 6 3 3 0.5 intronic rs9616939 SHANK3 AU,AO NM_033517 exon11 c.22922-540G>C 0.335264 0.3095 Uncertain 22_51135545_T->C 22 51135545 51135545 T C snp 235.77 0/1 99 22 11 11 0.5 intronic rs9616818 SHANK3 AU,AO NM_033517 exon11 c.22922-446T>C 0.732228 0.629 Uncertain 22_51135595_A->T 22 51135595 51135595 A T snp 344.77 0/1 99 25 11 14 0.56 intronic rs28735993 SHANK3 AU,AO NM_033517 exon11 c.22922-396A>T 0.111821 0.2302 0.072040 Uncertain 22_51137094_G->A 22 51137094 51137094 G A snp 643.77 0/1 99 42 16 26 0.62 intronic rs9616942 SHANK3 AU,AO NM_033517 exon12 c.24048-23G>A 0.109625 0.2044 0.078500 0.1397 0.2238 Uncertain 22_51137249_T->C 22 51137249 51137249 T C snp 1276.77 0/1 99 106 49 57 0.54 intronic rs1557620 SHANK3 AU,AO NM_033517 exon12 c.24162+18T>C 0.767772 0.624 0.805031 0.8039 0.6254 Uncertain 22_51144731_T->C 22 51144731 51144731 T C snp 115.77 0/1 99 12 6 6 0.5 intronic rs9968024 SHANK3 AU,AO NM_033517 exon17 c.31511+151T>C 0.319289 0.378 Uncertain 22_51150167_T->C 22 51150167 51150167 T C snp 883.77 1/1 66 28 0 28 1.0 intronic rs5770819 SHANK3 AU,AO NM_033517 exon18 c.36997+101T>C 0.665935 0.8899 Uncertain 22_51179000_C->A 22 51179000 51179000 C A snp 520.77 0/1 99 38 19 19 0.5 intronic rs2283675 ACR AU NM_001097 exon3 c.1742+595C>A 0.51278 0.6389 0.4127 0.6667 Uncertain 22_51182485_A->G 22 51182485 51182485 A G snp 1613.77 0/1 99 169 91 78 0.46 splicing rs6009961 ACR AU NM_001097 exon4 c.5825-3A>G 0.638379 0.4018 0.6613 0.4126 Pathogenic 22_51182600_C->T 22 51182600 51182600 C T snp 1641.77 0/1 99 172 99 73 0.42 exonic rs541083098 ACR AU nonsynonymous SNV NM_001097 exon4 c.C677T p.A226V 0.000199681 0.001 0.0001 0.0013 0.02 T 0.565 N 0.592 D 1.0 D 0.999 D ID=COSM3781496;OCCURENCE=1(pancreas) Pathogenic 22_51183017_C->T 22 51183017 51183017 C T snp 145.77 0/1 99 12 6 6 0.5 intronic rs5771000 ACR AU NM_001097 exon5 c.6417-63C>T 0.413738 0.4256 Uncertain 22_51183255_A->G 22 51183255 51183255 A G snp 3696.77 1/1 99 171 17 154 0.9 exonic rs5771002 ACR AU nonsynonymous SNV NM_001097 exon5 c.A886G p.M296V 0.725839 0.7956 0.7330 0.8148 0.55 T 0.0 P -0.915 T 0.02 T 0.009 T Pathogenic 22_51219006_G->A 22 51219006 51219006 G A snp 1914.77 0/1 99 149 80 69 0.46 ncRNA_intronic RPL23AP82 AU 0.205272 0.123 Uncertain X_2700202_A->G X 2700202 2700202 A G snp 954.77 1/1 69 36 0 36 1.0 intronic rs5939320 XG XU NM_001141920 exon4 c.29854+33A>G 0.353377 0.5092 0.347221 0.3140 0.5218 Uncertain X_2724760_T->C X 2724760 2724760 T C snp 1854.77 1/1 99 59 1 58 0.98 exonic rs3749988 XG XU nonsynonymous SNV NM_001141919 exon8 c.T392C p.L131P 0.965033 0.983 0.949708 0.9744 0.9882 0.34 T 0.000 P -1.037 T 0.0 T 0.0 T Pathogenic X_2725036_-->AT X 2725036 2725036 - AT indel 262.8 1/1 18 6 0 6 1.0 intronic rs35902344 XG XU NM_001141919 exon8 c.54471+250insAT 0.469934 0.5249 Uncertain X_2726396_A->G X 2726396 2726396 A G snp 361.78 1/1 27 14 0 14 1.0 intronic rs6567645 XG XU NM_001141920 exon8 c.55946+135A>G 0.953907 0.983 Uncertain X_2729540_-->A X 2729540 2729540 - A indel 761.73 1/1 90 34 0 34 1.0 intronic rs11439714 XG XU NM_001141920 exon9 c.59178+47insA 0.684768 0.733 0.7225 0.6675 Uncertain X_2732166_A->T X 2732166 2732166 A T snp 56.74 1/1 6 2 0 2 1.0 intronic rs5939337 XG XU NM_001141920 exon10 c.62089-238A>T 0.925563 0.9136 Uncertain X_2732356_-->T X 2732356 2732356 - T indel 477.19 0/1 4 32 4 28 0.88 intronic rs34201156 XG XU NM_001141920 exon10 c.62089-48insT 0.641854 0.6976 0.6282 0.6273 Uncertain X_2748051_T->C X 2748051 2748051 T C snp 1037.77 1/1 75 36 0 36 1.0 intronic rs57068689 GYG2 XU 0.721325 0.8233 Uncertain X_2748253_G->C X 2748253 2748253 G C snp 2030.77 1/1 99 72 0 72 1.0 intronic rs6642032 GYG2 XU NM_001184703 exon2 c.7+17G>C 0.918675 0.9869 0.926508 0.9577 0.9896 Uncertain X_2748292_C->G X 2748292 2748292 C G snp 1351.77 1/1 99 41 0 41 1.0 intronic rs6641656 GYG2 XU NM_001184703 exon2 c.7+56C>G 0.643444 0.8154 Uncertain X_2774478_A->G X 2774478 2774478 A G snp 2554.77 1/1 99 89 0 89 1.0 intronic rs5939132 GYG2 XU NM_001184703 exon7 c.26309-60A>G 0.963709 1 Uncertain X_2777985_C->T X 2777985 2777985 C T snp 1942.77 1/1 99 73 0 73 1.0 exonic rs2306734 GYG2 XU nonsynonymous SNV NM_003918 exon8 c.C809T p.A270V 0.578278 0.8037 0.607708 0.7016 0.8231 0.33 T 0.0 P -0.945 T 0.798 T 0.145 P Pathogenic X_2779570_A->G X 2779570 2779570 A G snp 811.77 1/1 60 28 0 28 1.0 exonic rs2306735 GYG2 XU nonsynonymous SNV NM_003918 exon9 c.A938G p.H313R 0.575364 0.805 0.591800 0.6678 0.8128 0.43 T 0.0 P -0.930 T 0.0 T 0.001 T Pathogenic X_2816082_T->C X 2816082 2816082 T C snp 1195.77 1/1 87 40 0 40 1.0 intergenic rs5939390 GYG2 XU 0.481854 0.623 Uncertain X_2822945_T->- X 2822945 2822945 T - indel 81.74 0/1 0 12 2 10 0.83 UTR3 rs60974016 ARSD XU 0.289007 0.4503 Uncertain X_2825403_A->G X 2825403 2825403 A G snp 4333.77 1/1 99 168 2 166 0.99 exonic rs2228431 ARSD XU nonsynonymous SNV NM_001669 exon10 c.T1691C p.M564T 0.218013 0.4372 0.120799 0.1317 0.4774 0.42 T 0.0 P -1.075 T 0.0 T 0.0 T Pathogenic X_2825754_T->A X 2825754 2825754 T A snp 303.78 1/1 24 9 0 9 1.0 intronic rs41310266 ARSD XU NM_001669 exon1 c.362+81T>A 0.190728 0.4175 Uncertain X_2825778_G->A X 2825778 2825778 G A snp 143.03 1/1 12 5 0 5 1.0 intronic rs60983223 ARSD XU NM_001669 exon1 c.362+105G>A 0.190728 0.4175 Uncertain X_2827794_-->A X 2827794 2827794 - A indel 89.87 1/1 15 5 0 5 1.0 intronic rs397951812 ARSD XU NM_001669 exon3 c.2546-63insA Uncertain X_2832614_T->A X 2832614 2832614 T A snp 56.77 0/1 85 17 13 4 0.24 intronic rs370201439 ARSD XU NM_001669 exon5 c.8285-982T>A Uncertain X_2832618_G->T X 2832618 2832618 G T snp 58.77 0/1 87 18 14 4 0.22 intronic rs73632952 ARSD XU NM_001669 exon5 c.8285-978G>T 0.0022 0.0011 Uncertain X_2832661_A->T X 2832661 2832661 A T snp 186.77 0/1 99 34 26 8 0.24 intronic rs111318153 ARSD XU NM_001669 exon5 c.8285-935A>T 0.0025 0.0008 Uncertain X_2832668_A->G X 2832668 2832668 A G snp 222.77 0/1 99 36 27 9 0.25 intronic rs139484145 ARSD XU NM_001669 exon5 c.8285-928A>G 0.0024 0.0015 0.0 P Uncertain X_2832696_T->C X 2832696 2832696 T C snp 358.77 0/1 99 60 43 17 0.28 intronic rs113031742 ARSD XU NM_001669 exon5 c.8285-900T>C 0.0011 0.0005 Uncertain X_2832708_G->T X 2832708 2832708 G T snp 382.77 0/1 99 69 50 19 0.28 intronic rs112408163 ARSD XU NM_001669 exon5 c.8285-888G>T 0.0008 0.0002 Uncertain X_2832715_T->C X 2832715 2832715 T C snp 444.77 0/1 99 71 50 21 0.3 intronic rs73632953 ARSD XU NM_001669 exon5 c.8285-881T>C 0.0010 0.0003 0.5 T 1 N -1.006 T 0.0 T 0.0 T Uncertain X_2832742_G->C X 2832742 2832742 G C snp 2432.77 1/1 99 85 0 85 1.0 intronic rs211648 ARSD XU NM_001669 exon5 c.8285-854G>C 0.745695 0.9031 0.709836 0.6451 0.9086 0.03 T 0.0 P -1.020 T 0.0 T 0.0 T Uncertain X_2832771_C->T X 2832771 2832771 C T snp 714.77 0/1 99 99 63 36 0.36 intronic rs78142040 ARSD XU NM_001669 exon5 c.8285-825C>T 0.0056 0.0045 Uncertain X_2832787_A->G X 2832787 2832787 A G snp 720.77 0/1 99 105 66 39 0.37 intronic rs73632954 ARSD XU NM_001669 exon5 c.8285-809A>G 0.0096 0.0062 0.52 T 1 N -1.006 T 0.003 T 0.003 T Uncertain X_2832860_G->A X 2832860 2832860 G A snp 496.77 0/1 99 60 38 22 0.37 intronic rs73632955 ARSD XU NM_001669 exon5 c.8285-736G>A 0.0022 0.0018 Uncertain X_2832871_A->G X 2832871 2832871 A G snp 375.77 0/1 99 49 33 16 0.33 intronic rs115343387 ARSD XU NM_001669 exon5 c.8285-725A>G Uncertain X_2832880_-->AT X 2832880 2832880 - AT indel 405.73 0/1 99 40 27 13 0.33 intronic rs201839082 ARSD XU NM_001669 exon5 c.8285-716insAT Uncertain X_2833476_G->A X 2833476 2833476 G A snp 192.77 0/1 99 10 4 6 0.6 intronic rs754144236 ARSD XU NM_001669 exon5 c.8285-120G>A Uncertain X_2833486_G->A X 2833486 2833486 G A snp 222.77 0/1 99 14 7 7 0.5 intronic rs371305173 ARSD XU NM_001669 exon5 c.8285-110G>A 0.00953642 0.0039 Uncertain X_2833489_C->G X 2833489 2833489 C G snp 215.77 0/1 99 17 10 7 0.41 intronic rs765638722 ARSD XU NM_001669 exon5 c.8285-107C>G Uncertain X_2833506_G->C X 2833506 2833506 G C snp 541.77 0/1 99 27 8 19 0.7 intronic rs211649 ARSD XU NM_001669 exon5 c.8285-90G>C 0.748079 0.9031 Uncertain X_2833507_T->C X 2833507 2833507 T C snp 268.77 0/1 99 28 19 9 0.32 intronic rs73632956 ARSD XU NM_001669 exon5 c.8285-89T>C Uncertain X_2833534_TTACGCCC->- X 2833534 2833541 TTACGCCC - indel 1413.73 0/1 99 41 27 14 0.34 intronic rs369423737 ARSD XU NM_001669 exon5 c.8285-62_8285-55delTTACGCCC Uncertain X_2833551_A->T X 2833551 2833551 A T snp 538.77 0/1 99 49 29 20 0.41 intronic rs114724695 ARSD XU NM_001669 exon5 c.8285-45A>T 0.0009 0 Uncertain X_2833552_C->G X 2833552 2833552 C G snp 533.77 0/1 99 52 31 21 0.4 intronic rs115030126 ARSD XU NM_001669 exon5 c.8285-44C>G 0.00503311 0.0039 0.0117 0.0042 Uncertain X_2833580_A->G X 2833580 2833580 A G snp 852.77 0/1 99 91 55 36 0.4 intronic rs112594989 ARSD XU NM_001669 exon5 c.8285-16A>G 0.0007 0.0002 Uncertain X_2833605_C->T X 2833605 2833605 C T snp 1158.77 0/1 99 125 73 52 0.42 exonic rs111939179 ARSD XU stopgain NM_001669 exon6 c.G992A p.W331X 0.0001 0 1 T 1.0 P ID=COSM1467373;OCCURENCE=2(large_intestine),1(thyroid),1(lung) Pathogenic X_2833628_A->C X 2833628 2833628 A C snp 1537.77 0/1 99 152 85 67 0.44 exonic rs373216270 ARSD XU synonymous SNV NM_001669 exon6 c.T969G p.G323G 7.059e-05 0 ID=COSM1467374;OCCURENCE=1(large_intestine) Uncertain X_2833631_A->G X 2833631 2833631 A G snp 1619.77 0/1 99 157 87 70 0.45 exonic rs377542415 ARSD XU synonymous SNV NM_001669 exon6 c.T966C p.Y322Y 4.664e-05 0 ID=COSM1467375;OCCURENCE=1(kidney),1(liver),1(large_intestine) Uncertain X_2833638_C->T X 2833638 2833638 C T snp 1852.77 0/1 99 167 87 80 0.48 exonic rs370769167 ARSD XU nonsynonymous SNV NM_001669 exon6 c.G959A p.G320D 7.093e-05 0 0 D 1.000 P 1.022 D 1.0 D 0.994 D ID=COSM1467376;OCCURENCE=2(liver),2(large_intestine) Pathogenic X_2833643_C->A X 2833643 2833643 C A snp 1908.77 0/1 99 171 88 83 0.49 exonic rs115332247 ARSD XU nonsynonymous SNV NM_001669 exon6 c.G954T p.Q318H 0.0001 0 0.06 T 0.0 P -0.434 T 0.005 T 0.02 T ID=COSM1467377;OCCURENCE=1(large_intestine) Pathogenic X_2833749_T->C X 2833749 2833749 T C snp 1636.77 0/1 99 128 62 66 0.52 intronic rs112924969 ARSD XU NM_001669 exon5 c.8422+16T>C 0.0065 0.0043 Uncertain X_2833752_C->T X 2833752 2833752 C T snp 1577.77 0/1 99 127 60 67 0.53 intronic rs115063380 ARSD XU NM_001669 exon5 c.8422+19C>T 0.0060 0.0040 Uncertain X_2833769_T->C X 2833769 2833769 T C snp 1262.77 0/1 99 105 51 54 0.51 intronic rs199688335 ARSD XU NM_001669 exon5 c.8422+36T>C 0.0023 0.0016 Uncertain X_2833771_T->C X 2833771 2833771 T C snp 1163.77 0/1 99 100 49 51 0.51 intronic rs200976696 ARSD XU NM_001669 exon5 c.8422+38T>C 0.0023 0.0016 Uncertain X_2833780_C->T X 2833780 2833780 C T snp 1094.77 0/1 99 83 40 43 0.52 intronic rs115636789 ARSD XU NM_001669 exon5 c.8422+47C>T 0.000264901 0.0039 0.0029 Uncertain X_2833803_C->T X 2833803 2833803 C T snp 821.77 0/1 99 55 25 30 0.55 intronic rs112173548 ARSD XU NM_001669 exon5 c.8422+70C>T ID=COSN399631;OCCURENCE=1(lung) Likely pathogenic X_2833855_T->G X 2833855 2833855 T G snp 274.77 0/1 91 13 3 10 0.77 intronic rs73632957 ARSD XU NM_001669 exon5 c.8422+122T>G ID=COSN399632;OCCURENCE=1(lung) Likely pathogenic X_2833856_T->C X 2833856 2833856 T C snp 430.77 1/1 33 13 0 13 1.0 intronic rs211650 ARSD XU NM_001669 exon5 c.8422+123T>C 0.726358 0.9031 Uncertain X_2833884_A->G X 2833884 2833884 A G snp 198.77 0/1 54 8 2 6 0.75 intronic rs112111949 ARSD XU NM_001669 exon5 c.8422+151A>G ID=COSN399633;OCCURENCE=1(lung) Likely pathogenic X_2833897_G->A X 2833897 2833897 G A snp 86.78 0/1 24 4 1 3 0.75 intronic ARSD XU NM_001669 exon5 c.8422+164G>A Uncertain X_2833900_T->C X 2833900 2833900 T C snp 83.78 0/1 24 4 1 3 0.75 intronic ARSD XU NM_001669 exon5 c.8422+167T>C Uncertain X_2833913_T->C X 2833913 2833913 T C snp 48.74 1/1 6 2 0 2 1.0 intronic ARSD XU NM_001669 exon5 c.8422+180T>C Uncertain X_2835831_C->T X 2835831 2835831 C T snp 482.77 0/1 99 55 34 21 0.38 intronic rs75490251 ARSD XU NM_001669 exon6 c.10533-13C>T 0.1058 0.0972 Uncertain X_2835863_G->T X 2835863 2835863 G T snp 709.77 0/1 99 89 56 33 0.37 exonic rs78034736 ARSD XU nonsynonymous SNV NM_001669 exon5 c.C845A p.A282D 0.1017 0.1030 0 D 1.000 P -0.813 T 1.0 D 0.993 D CLINSIG=untested;CLNDBN=Malignant_melanoma;CLNREVSTAT=no_assertion_provided;CLNACC=RCV000073163.2;CLNDSDB=MedGen:SNOMED_CT;CLNDSDBID=C0025202:2092003 ID=COSM1319458;OCCURENCE=1(haematopoietic_and_lymphoid_tissue) Pathogenic X_2835964_G->A X 2835964 2835964 G A snp 1127.77 0/1 99 146 93 53 0.36 exonic rs73632972 ARSD XU synonymous SNV NM_001669 exon5 c.C744T p.F248F 0.0045 0.0039 ID=COSM3363957;OCCURENCE=1(kidney) Uncertain X_2835985_G->A X 2835985 2835985 G A snp 790.77 0/1 99 134 97 37 0.28 exonic rs748243474 ARSD XU synonymous SNV NM_001669 exon5 c.C723T p.F241F 0.00370861 0.0013 0.0011 Uncertain X_2835989_A->C X 2835989 2835989 A C snp 785.77 0/1 99 136 100 36 0.26 exonic rs143238998 ARSD XU nonsynonymous SNV NM_001669 exon5 c.T719G p.F240C 0.00370861 0.0010 0.0006 0.09 T 1.000 N 0.079 D 0.045 T 0.111 T Pathogenic X_2835993_G->A X 2835993 2835993 G A snp 764.77 0/1 99 136 101 35 0.26 exonic rs755296450 ARSD XU synonymous SNV NM_001669 exon5 c.C715T p.L239L 0.00370861 0.0011 0.0005 ID=COSM3363958;OCCURENCE=1(kidney) Uncertain X_2835995_C->A X 2835995 2835995 C A snp 769.77 0/1 99 135 100 35 0.26 exonic rs150899882 ARSD XU nonsynonymous SNV NM_001669 exon5 c.G713T p.C238F 0.0012 0.0005 1 T 1 N -0.605 T 0.0 T 0.0 T ID=COSM3363959;OCCURENCE=1(kidney) Pathogenic X_2835999_CCACGCCGG->- X 2835999 2836007 CCACGCCGG - indel 3700.73 0/1 99 129 87 42 0.33 exonic rs113556864 ARSD XU nonframeshift deletion NM_001669 exon5 c.701_709del p.234_237del 0.182718 0.0010 0.0005 ID=COSM1467378;OCCURENCE=2(large_intestine) Uncertain X_2836037_G->C X 2836037 2836037 G C snp 1921.77 0/1 99 122 44 78 0.64 exonic rs211653 ARSD XU nonsynonymous SNV NM_001669 exon5 c.C671G p.S224C 0.406358 0.3364 0.444655 0.4484 0.3131 0.23 T 0.0 P -1.127 T 0.12 T 0.179 T Pathogenic X_2836041_A->T X 2836041 2836041 A T snp 896.77 0/1 99 122 78 44 0.36 exonic rs67272620 ARSD XU nonsynonymous SNV NM_001669 exon5 c.T667A p.F223I 0.0055 0.0035 0.69 T 1 N -0.536 T 0.001 T 0.006 T Pathogenic X_2836047_C->T X 2836047 2836047 C T snp 808.77 0/1 99 114 73 41 0.36 exonic rs67359049 ARSD XU nonsynonymous SNV NM_001669 exon5 c.G661A p.G221S 0.0061 0.0052 0.14 T 1 N -0.399 T 0.999 D 0.943 D ID=COSM3363960;OCCURENCE=1(kidney) Pathogenic X_2836060_G->A X 2836060 2836060 G A snp 847.77 0/1 99 112 73 39 0.35 exonic rs113318393 ARSD XU synonymous SNV NM_001669 exon5 c.C648T p.A216A 0.0113 0.0086 ID=COSM3363961;OCCURENCE=1(kidney) Uncertain X_2836084_C->G X 2836084 2836084 C G snp 840.77 0/1 99 112 67 45 0.4 exonic rs73632973 ARSD XU synonymous SNV NM_001669 exon5 c.G624C p.A208A 0.0225 0.0203 Uncertain X_2836138_G->A X 2836138 2836138 G A snp 1218.77 0/1 99 109 55 54 0.5 exonic rs73632974 ARSD XU synonymous SNV NM_001669 exon5 c.C570T p.P190P 0.0652 0.0578 ID=COSM4005070;OCCURENCE=1(urinary_tract) Uncertain X_2836181_A->T X 2836181 2836181 A T snp 1060.77 0/1 99 102 55 47 0.46 exonic rs73632975 ARSD XU nonsynonymous SNV NM_001669 exon5 c.T527A p.M176K 0.0438 0.0345 0.03 T 0.998 P -0.117 T 0.314 T 0.248 T ID=COSM1636495;OCCURENCE=2(urinary_tract),1(liver) Pathogenic X_2836184_C->T X 2836184 2836184 C T snp 1068.77 0/1 99 100 53 47 0.47 exonic rs73632976 ARSD XU nonsynonymous SNV NM_001669 exon5 c.G524A p.G175D 0.0427 0.0332 0.01 T 1.000 P -0.140 T 0.983 D 0.883 D ID=COSM1636496;OCCURENCE=1(liver),1(urinary_tract) Pathogenic X_2836211_A->T X 2836211 2836211 A T snp 1006.77 0/1 99 95 48 47 0.49 exonic rs73632977 ARSD XU nonsynonymous SNV NM_001669 exon5 c.T497A p.L166Q 0.0388 0.0258 0.03 T 0.0 P -0.083 T 0.989 D 0.93 D ID=COSM298990;OCCURENCE=1(large_intestine),1(urinary_tract),2(liver) Pathogenic X_2836238_G->A X 2836238 2836238 G A snp 718.77 0/1 99 72 36 36 0.5 exonic rs73632978 ARSD XU nonsynonymous SNV NM_001669 exon5 c.C470T p.S157F 0.0327 0.0245 0.04 T 0.0 P -0.311 T 0.084 T 0.104 T ID=COSM1636497;OCCURENCE=2(liver),1(urinary_tract) Pathogenic X_2836283_A->G X 2836283 2836283 A G snp 428.77 0/1 99 40 24 16 0.4 intronic rs115556892 ARSD XU NM_001669 exon6 c.10957+15A>G 0.0170 0.0141 Uncertain X_2836285_T->C X 2836285 2836285 T C snp 393.77 0/1 99 39 24 15 0.38 intronic rs114112932 ARSD XU NM_001669 exon6 c.10957+17T>C 0.0141 0.0120 Uncertain X_2836293_A->G X 2836293 2836293 A G snp 384.77 0/1 99 37 23 14 0.38 intronic rs138206271 ARSD XU NM_001669 exon6 c.10957+25A>G 0.0096 0.0129 Uncertain X_2836317_G->T X 2836317 2836317 G T snp 296.77 0/1 99 24 13 11 0.46 intronic rs113510342 ARSD XU NM_001669 exon6 c.10957+49G>T 0.0068 0.0063 Uncertain X_2836336_G->C X 2836336 2836336 G C snp 239.77 0/1 99 15 7 8 0.53 intronic rs112348737 ARSD XU NM_001669 exon6 c.10957+68G>C Uncertain X_2836349_G->C X 2836349 2836349 G C snp 153.77 0/1 99 9 4 5 0.56 intronic rs111614007 ARSD XU NM_001669 exon6 c.10957+81G>C Uncertain X_2847017_T->C X 2847017 2847017 T C snp 171.9 1/1 15 5 0 5 1.0 intronic rs3747393 ARSD XU NM_001669 exon10 c.21961-255T>C 0.555232 0.8547 Uncertain X_2847133_A->G X 2847133 2847133 A G snp 532.77 1/1 39 22 0 22 1.0 intronic rs3747394 ARSD XU NM_001669 exon10 c.21961-139A>G 0.616159 0.8717 Uncertain X_2847370_G->A X 2847370 2847370 G A snp 59.74 1/1 6 3 0 3 1.0 UTR5 rs3747396 ARSD XU 0.209801 0.5955 Uncertain X_2852951_G->A X 2852951 2852951 G A snp 609.77 1/1 45 23 0 23 1.0 exonic rs11222 ARSE XR synonymous SNV NM_000047 exon11 c.C1692T p.N564N 0.565828 0.8966 0.458085 0.6260 0.8958 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000145028.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain X_2856155_C->T X 2856155 2856155 C T snp 643.77 1/1 48 23 0 23 1.0 exonic rs35143646 ARSE XR nonsynonymous SNV NM_000047 exon9 c.G1270A p.G424S 0.57457 0.8953 0.492225 0.6593 0.8920 0.43 T 0.999 P -0.903 T 0.939 T 0.511 D CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000145026.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic X_2942109_T->C X 2942109 2942109 T C snp 1231.77 1/1 87 47 0 47 1.0 exonic rs5939407 ARSH XU synonymous SNV NM_001011719 exon6 c.T949C p.L317L 0.74702 0.9673 0.631544 0.7108 0.9760 Uncertain X_2950961_A->G X 2950961 2950961 A G snp 673.77 1/1 51 19 0 19 1.0 intronic rs5982634 ARSH XU NM_001011719 exon9 c.26405-97A>G 0.76053 0.9686 Uncertain X_2950998_C->T X 2950998 2950998 C T snp 1477.77 1/1 99 46 0 46 1.0 intronic rs5939411 ARSH XU NM_001011719 exon9 c.26405-60C>T 0.737748 0.9686 Uncertain X_2951434_C->G X 2951434 2951434 C G snp 286.78 1/1 24 8 0 8 1.0 downstream rs5939155 ARSH XU 0.767947 0.9686 0.663259 0.7430 0.9775 Uncertain X_3019114_G->A X 3019114 3019114 G A snp 928.77 1/1 69 34 0 34 1.0 intronic rs11798999 ARSF XU NM_004042 exon8 c.32986-13G>A 0.119205 0.0681 0.152339 0.1510 0.0690 Uncertain X_3021798_T->C X 3021798 3021798 T C snp 1578.77 1/1 99 58 0 58 1.0 splicing rs1869561 ARSF XU NM_004042 exon9 c.35661-4T>C 0.112583 0.0668 0.143615 0.1466 0.0694 Pathogenic X_3228242_G->A X 3228242 3228242 G A snp 2030.77 1/1 99 76 1 75 0.99 exonic MXRA5 XU nonsynonymous SNV NM_015419 exon7 c.C8002T p.R2668C 0.03 T 1 N -1.091 T 1.0 D 0.939 D Pathogenic X_3228411_G->A X 3228411 3228411 G A snp 1588.77 1/1 99 57 0 57 1.0 exonic rs1635233 MXRA5 XU synonymous SNV NM_015419 exon7 c.C7833T p.A2611A 0.742252 0.7343 0.719839 0.7052 0.7818 Uncertain X_3228653_G->C X 3228653 3228653 G C snp 41.74 1/1 6 4 0 4 1.0 exonic rs1726208 MXRA5 XU nonsynonymous SNV NM_015419 exon7 c.C7591G p.L2531V 0.425695 0.5668 9.494e-05 0.0004 1 T 0.000 P -0.911 T 0.0 T 0.0 T Pathogenic X_3228891_A->G X 3228891 3228891 A G snp 2866.77 1/1 99 98 0 98 1.0 exonic rs1635235 MXRA5 XU synonymous SNV NM_015419 exon7 c.T7353C p.T2451T 0.611126 0.7356 0.545101 0.6071 0.7654 Uncertain X_3235724_C->T X 3235724 3235724 C T snp 862.77 1/1 63 26 0 26 1.0 exonic rs1635242 MXRA5 XU nonsynonymous SNV NM_015419 exon6 c.G5998A p.G2000S 0.694834 0.7382 0.664111 0.6759 0.7704 0.56 T 0.117 P -0.919 T 0.117 T 0.164 T Pathogenic X_3238014_-->A X 3238014 3238014 - A indel 707.73 1/1 95 35 0 35 1.0 intronic rs776133217 MXRA5 XU NM_015419 exon3 c.10292-34insA 0.0984 0.1301 Uncertain X_3238167_T->G X 3238167 3238167 T G snp 1168.77 1/1 87 41 1 40 0.98 exonic rs1635245 MXRA5 XU synonymous SNV NM_015419 exon5 c.A5559C p.P1853P 0.470728 0.3599 0.516236 0.5269 0.3903 Uncertain X_3238733_G->A X 3238733 3238733 G A snp 4954.77 1/1 99 175 0 175 1.0 exonic rs1974522 MXRA5 XU nonsynonymous SNV NM_015419 exon5 c.C4993T p.P1665S 0.431523 0.3599 0.473918 0.5145 0.3908 0.08 T 0.0 P -0.915 T 0.689 T 0.132 P Pathogenic X_3239545_C->T X 3239545 3239545 C T snp 998.77 1/1 72 33 0 33 1.0 exonic rs1726199 MXRA5 XU nonsynonymous SNV NM_015419 exon5 c.G4181A p.G1394D 0.721325 0.7382 0.689671 0.6843 0.7763 1 T 0.0 P -0.943 T 0.0 T 0.0 T Pathogenic X_3240343_G->A X 3240343 3240343 G A snp 1421.77 1/1 99 53 0 53 1.0 exonic rs1635246 MXRA5 XU nonsynonymous SNV NM_015419 exon5 c.C3383T p.A1128V 0.520265 0.3599 0.576162 0.5506 0.3912 0.38 T 0.0 P -0.963 T 0.001 T 0.002 T Pathogenic X_3241050_G->A X 3241050 3241050 G A snp 1789.77 1/1 99 67 0 67 1.0 exonic rs1635247 MXRA5 XU synonymous SNV NM_015419 exon5 c.C2676T p.S892S 0.520795 0.3599 0.576541 0.5458 0.3911 Uncertain X_3241256_T->C X 3241256 3241256 T C snp 1726.77 1/1 99 60 0 60 1.0 exonic rs5983119 MXRA5 XU nonsynonymous SNV NM_015419 exon5 c.A2470G p.I824V 0.749934 0.7382 0.728865 0.6868 0.7699 1 T 0.0 P -0.948 T 0.0 T 0.0 T Pathogenic X_3241284_A->G X 3241284 3241284 A G snp 1618.77 1/1 99 57 0 57 1.0 exonic rs1635248 MXRA5 XU synonymous SNV NM_015419 exon5 c.T2442C p.S814S 0.464106 0.3599 0.508852 0.5251 0.3916 Uncertain X_3241317_T->C X 3241317 3241317 T C snp 1532.77 1/1 99 58 0 58 1.0 exonic rs1635249 MXRA5 XU synonymous SNV NM_015419 exon5 c.A2409G p.P803P 0.750464 0.7382 0.730664 0.6871 0.7699 Uncertain X_3241791_G->A X 3241791 3241791 G A snp 1481.77 1/1 99 41 0 41 1.0 exonic rs1635250 MXRA5 XU synonymous SNV NM_015419 exon5 c.C1935T p.D645D 0.463576 0.3599 0.508568 0.5265 0.3930 Uncertain X_3592725_G->A X 3592725 3592725 G A snp 2171.77 1/1 99 80 0 80 1.0 exonic rs10871864 PRKX XU synonymous SNV NM_005044 exon2 c.C249T p.P83P 0.455364 0.3678 0.504686 0.5482 0.3530 Uncertain X_3592847_C->T X 3592847 3592847 C T snp 650.77 1/1 48 20 0 20 1.0 intronic rs7880937 PRKX XU NM_005044 exon8 c.62567+40C>T 0.943046 0.9948 0.919530 0.9146 0.9989 Uncertain X_3631167_A->G X 3631167 3631167 A G snp 785.77 1/1 57 31 0 31 1.0 exonic rs3752362 PRKX XU nonsynonymous SNV NM_005044 exon1 c.T128C p.V43A 0.707815 0.9162 0.553368 0.6205 0.9307 0.18 T 0.0 P -1.075 T 0.0 T 0.0 T Pathogenic X_7243304_G->A X 7243304 7243304 G A snp 1317.77 1/1 96 46 0 46 1.0 intronic rs4403552 STS XR NM_000351 exon8 c.105663-75G>A 0.258278 0.4005 Uncertain X_7890215_C->T X 7890215 7890215 C T snp 1124.77 1/1 81 40 0 40 1.0 intronic rs1183732 PNPLA4 XU NM_001172672 exon5 c.21413+76C>T 0.658808 0.7055 Uncertain X_8095173_T->A X 8095173 8095173 T A snp 1060.77 1/1 75 39 0 39 1.0 downstream rs1037521 MIR651 XU 0.69457 0.8966 0.556825 Uncertain X_8138080_G->C X 8138080 8138080 G C snp 550.77 1/1 39 26 0 26 1.0 exonic rs1058239 VCX2 XU nonsynonymous SNV NM_016378 exon3 c.C413G p.T138S 0.89404 0.966 0.856464 0.8437 0.9550 1 T 0.0 P -0.973 T 0.002 T 0.0 T Pathogenic X_8138160_T->C X 8138160 8138160 T C snp 315.78 1/1 24 12 0 12 1.0 exonic rs1058238 VCX2 XU synonymous SNV NM_016378 exon3 c.A333G p.E111E 0.8169 0.9422 Uncertain X_8138165_C->G X 8138165 8138165 C G snp 277.8 1/1 21 11 0 11 1.0 exonic rs1058237 VCX2 XU nonsynonymous SNV NM_016378 exon3 c.G328C p.V110L 0.83894 0.9555 0.7931 0.9388 0.92 T 0.0 P -0.960 T 0.0 T 0.0 T Pathogenic X_8138170_C->G X 8138170 8138170 C G snp 232.84 1/1 18 10 0 10 1.0 exonic rs75657421 VCX2 XU nonsynonymous SNV NM_016378 exon3 c.G323C p.S108T 0.809536 0.949 0.7485 0.9198 1 T 0.0 P -0.951 T 0.0 T 0.0 T Pathogenic X_8138171_T->C X 8138171 8138171 T C snp 256.8 1/1 21 10 0 10 1.0 exonic rs78723459 VCX2 XU nonsynonymous SNV NM_016378 exon3 c.A322G p.S108G 0.7464 0.9201 0.01 T 0.0 P -0.977 T 0.005 T 0.001 T Pathogenic X_8138182_A->G X 8138182 8138182 A G snp 272.8 1/1 21 10 0 10 1.0 exonic rs41305169 VCX2 XU nonsynonymous SNV NM_016378 exon3 c.T311C p.L104P 0.4581 0.7911 0.08 T 1.000 N -0.910 T 0.966 D 0.883 D Pathogenic X_8270569_A->- X 8270569 8270569 A - indel 186.73 0/1 71 15 8 7 0.47 intergenic VCX2 XU Uncertain X_8270569_-->AAAGAAAGAGAAAG X 8270569 8270569 - AAAGAAAGAGAAAG indel 1616.73 1/1 45 15 0 15 1.0 intergenic VCX2 XU Uncertain X_8270615_-->AG X 8270615 8270615 - AG indel 2448.73 1/1 99 56 1 55 0.98 intergenic rs755631559 VCX2 XU Uncertain X_8467201_-->AG X 8467201 8467201 - AG indel 602.73 1/1 42 14 0 14 1.0 intergenic rs201787314 VCX3B XU Uncertain X_8467240_AAAG->- X 8467240 8467243 AAAG - indel 1795.73 1/1 90 30 0 30 1.0 intergenic rs372703313 VCX3B XU Uncertain X_8766126_C->A X 8766126 8766126 C A snp 972.77 1/1 69 38 0 38 1.0 intronic FAM9A XU NM_174951 exon6 c.6839-64C>A Uncertain X_9000595_G->- X 9000595 9000595 G - indel 2597.73 1/1 99 122 6 116 0.95 intronic rs200449273 FAM9B XU NM_205849 exon7 c.6947+93delG 0.393907 0.4332 Uncertain X_9050530_G->A X 9050530 9050530 G A snp 489.77 1/1 39 14 0 14 1.0 intergenic rs148422905 FAM9B XU 0.28 0.4738 Uncertain X_9050571_AG->- X 9050571 9050572 AG - indel 1465.73 1/1 99 37 0 37 1.0 intergenic rs111872205 FAM9B XU 0.4672 0.4930 Uncertain X_9651839_T->A X 9651839 9651839 T A snp 94.28 1/1 9 3 0 3 1.0 intronic rs2732883 TBL1X XU NM_001139467 exon5 c.29778-243T>A 0.930596 1 Uncertain X_9655927_G->A X 9655927 9655927 G A snp 50.74 1/1 6 2 0 2 1.0 intronic rs2732886 TBL1X XU NM_001139467 exon6 c.33752-129G>A 0.815099 1 Uncertain X_9677599_G->A X 9677599 9677599 G A snp 857.77 1/1 66 24 0 24 1.0 intronic rs1006912 TBL1X XU NM_001139467 exon14 c.55368-73G>A 0.459073 0.6126 Uncertain X_9693652_G->A X 9693652 9693652 G A snp 575.77 1/1 42 20 0 20 1.0 UTR3 rs3044 GPR143 XU,XL 0.474967 0.6086 Uncertain X_9729001_G->A X 9729001 9729001 G A snp 139.03 1/1 12 4 0 4 1.0 intronic rs12560076 GPR143 XU,XL NM_000273 exon8 c.35081+135G>A 0.333245 0.2984 Uncertain X_9859098_A->G X 9859098 9859098 A G snp 2379.77 1/1 99 93 0 93 1.0 exonic rs6640543 SHROOM2 XU synonymous SNV NM_001649 exon3 c.A399G p.P133P 0.861987 0.9948 0.841776 0.9304 0.9965 Uncertain X_9859197_A->G X 9859197 9859197 A G snp 2186.77 1/1 99 75 0 75 1.0 intronic rs6640544 SHROOM2 XU NM_001649 exon3 c.104563+49A>G 0.81298 0.9948 0.786398 0.9019 0.9961 Uncertain X_9862275_G->C X 9862275 9862275 G C snp 54.74 1/1 6 2 0 2 1.0 intronic rs4830671 SHROOM2 XU NM_001649 exon4 c.107812-122G>C 1 1 Uncertain X_9862282_A->G X 9862282 9862282 A G snp 174.9 1/1 15 6 0 6 1.0 intronic rs12014321 SHROOM2 XU NM_001649 exon4 c.107812-115A>G 0.236556 0.4332 Uncertain X_9863112_A->G X 9863112 9863112 A G snp 2564.77 1/1 99 91 0 91 1.0 exonic rs6530341 SHROOM2 XU synonymous SNV NM_001649 exon4 c.A1164G p.P388P 0.208212 0.3521 0.170146 0.1844 0.3974 Uncertain X_9914667_A->G X 9914667 9914667 A G snp 1567.77 1/1 99 59 0 59 1.0 intronic rs2073941 SHROOM2 XU NM_001649 exon10 c.160125-43A>G 0.410066 0.5694 0.323953 0.2999 0.6132 Uncertain X_9914947_G->C X 9914947 9914947 G C snp 1215.77 1/1 87 40 0 40 1.0 exonic rs2073942 SHROOM2 XU nonsynonymous SNV NM_001649 exon10 c.G4821C p.L1607F 0.463841 0.5641 0.405078 0.4169 0.6521 0.26 T 0.0 P -1.018 T 0.001 T 0.004 T Pathogenic X_10085674_T->C X 10085674 10085674 T C snp 1919.77 1/1 99 70 0 70 1.0 exonic rs6530368 WWC3 XU synonymous SNV NM_015691 exon11 c.T1575C p.D525D 0.959205 1 0.907392 0.9301 0.9998 Uncertain X_10106811_C->T X 10106811 10106811 C T snp 3448.77 1/1 99 126 0 126 1.0 exonic rs140610439 WWC3 XU synonymous SNV NM_015691 exon21 c.C2919T p.L973L 0.00423841 0.0209 0.000284 0.0017 0.0147 Uncertain X_10174386_C->T X 10174386 10174386 C T snp 306.78 1/1 24 11 0 11 1.0 intronic rs5934810 CLCN4 XR NM_001830 exon7 c.21325-11C>T 0.172185 0.2814 0.090505 0.1531 0.2631 Uncertain X_10180449_C->T X 10180449 10180449 C T snp 997.77 1/1 72 37 0 37 1.0 intronic rs1989890 CLCN4 XR NM_001830 exon10 c.27434-57C>T 0.120265 0.1832 Uncertain X_10201780_A->G X 10201780 10201780 A G snp 48.74 1/1 6 2 0 2 1.0 UTR3 rs5933825 CLCN4 XR 0.600265 0.9058 Uncertain X_10533043_A->- X 10533043 10533043 A - indel 65.25 1/1 9 9 1 8 0.89 intronic rs397895384 MID1 XR NM_000381 exon9 c.117520-1884delA 0.875497 0.8154 Uncertain X_11284194_A->T X 11284194 11284194 A T snp 235.8 0/1 21 11 2 9 0.82 intronic rs3030692 ARHGAP6 XU NM_013423 exon13 c.127113+99A>T Uncertain X_11284196_A->T X 11284196 11284196 A T snp 153.77 0/1 99 9 4 5 0.56 intronic ARHGAP6 XU NM_013423 exon13 c.127113+101A>T Uncertain X_11786839_T->C X 11786839 11786839 T C snp 896.77 1/1 66 30 0 30 1.0 intronic rs2525868 MSL3 XU NM_001193270 exon10 c.9975+38T>C 0.936689 1 0.850611 0.8653 0.9998 Uncertain X_12722616_C->G X 12722616 12722616 C G snp 1519.77 1/1 99 61 0 61 1.0 intronic rs4469660 FRMPD4 XU NM_014728 exon11 c.565514+12C>G 0.995232 1 0.994793 0.9928 1 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000081647.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain X_12725701_C->G X 12725701 12725701 C G snp 991.77 1/1 72 35 0 35 1.0 exonic rs6641078 FRMPD4 XU synonymous SNV NM_014728 exon13 c.C1401G p.V467V 0.243179 0.7003 0.089369 0.1848 0.7131 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000117098.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain X_12809661_G->A X 12809661 12809661 G A snp 1851.77 1/1 99 64 0 64 1.0 exonic rs1731469 PRPS2 XU synonymous SNV NM_001039091 exon1 c.G45A p.L15L 0.578013 0.805 0.567060 0.6624 0.7912 Uncertain X_12809785_G->A X 12809785 12809785 G A snp 563.77 1/1 42 21 0 21 1.0 intronic rs372982961 PRPS2 XU NM_002765 exon1 c.122+47G>A 0.0010596 0.0052 0.0031 0.0536 Uncertain X_12837558_C->T X 12837558 12837558 C T snp 396.77 1/1 30 12 0 12 1.0 intronic rs5935399 PRPS2 XU NM_002765 exon5 c.28009-67C>T 0.830464 0.8586 Uncertain X_12924697_C->G X 12924697 12924697 C G snp 1024.77 1/1 75 35 0 35 1.0 ncRNA_intronic rs3764879 TLR8-AS1 XU 0.463576 0.8076 Uncertain X_12924826_A->G X 12924826 12924826 A G snp 2781.77 1/1 99 104 0 104 1.0 exonic rs3764880 TLR8 XU nonsynonymous SNV NM_138636 exon1 c.A1G p.M1V 0.463841 0.8076 0.253432 0.3579 0.8178 0 D 0.001 P -0.940 T 0.0 T 0.0 T ID=CM083186;DIS=Slower progression of HIV, association with;TAG=DFP;PUB=18605904 DFP Pathogenic X_12937513_C->T X 12937513 12937513 C T snp 2026.77 1/1 99 69 0 69 1.0 exonic rs2159377 TLR8 XU synonymous SNV NM_138636 exon2 c.C354T p.D118D 0.37404 0.7618 0.161223 0.2722 0.7615 Uncertain X_12937804_C->T X 12937804 12937804 C T snp 4716.77 1/1 99 171 0 171 1.0 exonic rs5744080 TLR8 XU synonymous SNV NM_138636 exon2 c.C645T p.H215H 0.677086 0.8076 0.522344 0.5223 0.7988 Uncertain X_12939112_G->C X 12939112 12939112 G C snp 3131.77 1/1 99 109 0 109 1.0 exonic rs2407992 TLR8 XU synonymous SNV NM_138636 exon2 c.G1953C p.L651L 0.722914 0.8115 0.572010 0.5418 0.8037 Uncertain X_12939412_C->A X 12939412 12939412 C A snp 4178.77 1/1 99 137 0 137 1.0 exonic rs3747414 TLR8 XU synonymous SNV NM_138636 exon2 c.C2253A p.I751I 0.542517 0.8089 0.356906 0.4466 0.7996 Uncertain X_12939928_T->C X 12939928 12939928 T C snp 1799.77 1/1 99 64 0 64 1.0 exonic rs2109135 TLR8 XU synonymous SNV NM_138636 exon2 c.T2769C p.D923D 0.99894 1 0.997823 0.9979 1 Uncertain X_12994940_C->T X 12994940 12994940 C T snp 670.03 1/1 12 25 2 23 0.92 UTR3 rs755103911 TMSB4X XU 2.378e-05 0.0003 Uncertain X_13626403_T->C X 13626403 13626403 T C snp 1494.77 1/1 99 47 0 47 1.0 intronic rs2370236 EGFL6 XU NM_015507 exon7 c.38462-39T>C 0.199735 0.1767 0.195399 0.1195 0.1664 Uncertain X_13637306_A->G X 13637306 13637306 A G snp 3336.77 1/1 99 122 0 122 1.0 exonic rs139523577 EGFL6 XU nonsynonymous SNV NM_001167890 exon9 c.A1127G p.E376G 0.0156291 0.0196 0.006059 0.0183 0.0226 0.37 T 0.0 P -0.745 T 0.206 T 0.085 T Pathogenic X_13651357_G->A X 13651357 13651357 G A snp 50.74 1/1 6 2 0 2 1.0 UTR3 rs111877771 EGFL6 XU 0.116291 0.1322 Uncertain X_13680580_G->A X 13680580 13680580 G A snp 1030.77 1/1 75 33 0 33 1.0 intronic rs141411768 TCEANC XU NM_152634 exon4 c.2814-39G>A 0.0113907 0.0196 0.005890 0.0154 0.0226 Uncertain X_13681679_G->T X 13681679 13681679 G T snp 1243.77 1/1 90 43 0 43 1.0 exonic rs5935650 TCEANC XU nonsynonymous SNV NM_001297564 exon3 c.G1052T p.W351L 0.592053 0.6741 0.533176 0.5783 0.6503 0.19 T 0.0 P -0.936 T 0.0 T 0.0 T Pathogenic X_13734539_T->C X 13734539 13734539 T C snp 773.77 1/1 57 22 0 22 1.0 intronic rs2285633 TRAPPC2 XR NM_014563 exon3 c.2125-111T>C 0.630199 0.6073 Uncertain X_13779409_-->T X 13779409 13779409 - T indel 89.87 1/1 15 11 0 11 1.0 intronic rs112117780 OFD1 XR,XD,XU NM_003611 exon17 c.26140+79insT 0.651921 0.7055 Uncertain X_13803960_C->T X 13803960 13803960 C T snp 791.77 1/1 57 33 0 33 1.0 intronic rs5978663 GPM6B XU NM_005278 exon6 c.11265+33C>T 0.615099 0.5654 0.590113 0.6367 0.5789 Uncertain X_15262813_-->G X 15262813 15262813 - G indel 49.87 0/1 15 22 6 16 0.73 intronic rs112382242 ASB9 XU NM_001031739 exon1 c.125+61insG 0.0749669 0.0759 Uncertain X_15262814_T->A X 15262814 15262814 T A snp 502.77 ./1 99 19 0 19 1.0 intronic rs28628283 ASB9 XU NM_001031739 exon1 c.125+62T>A 0.290066 0.2435 Uncertain X_15262814_T->G X 15262814 15262814 T G snp 502.77 ./1 99 19 0 19 1.0 intronic rs28628283 ASB9 XU NM_001031739 exon1 c.125+62T>G 0.578543 0.7068 Uncertain X_15333842_T->A X 15333842 15333842 T A snp 59.74 1/1 6 3 0 3 1.0 upstream rs4830529 ASB11 XU 0.996821 1 Uncertain X_15353689_T->C X 15353689 15353689 T C snp 570.77 1/1 42 19 0 19 1.0 upstream rs4830938 PIGA XR,XU 0.865695 0.9581 Uncertain X_15408419_T->C X 15408419 15408419 T C snp 478.77 1/1 36 17 0 17 1.0 ncRNA_intronic rs2317326 PIR-FIGF XU 0.538543 0.5353 0.529401 0.5620 0.5840 Uncertain X_15415583_C->T X 15415583 15415583 C T snp 3660.77 1/1 99 141 0 141 1.0 exonic rs8094 PIR XU synonymous SNV NM_003662 exon8 c.G681A p.Q227Q 0.438146 0.4686 0.490675 0.5363 0.4866 Uncertain X_15415780_C->T X 15415780 15415780 C T snp 206.84 1/1 18 7 0 7 1.0 ncRNA_intronic rs3829989 PIR-FIGF XU 0.444238 0.4555 Uncertain X_15498034_T->C X 15498034 15498034 T C snp 143.03 1/1 12 5 0 5 1.0 ncRNA_intronic rs5935986 PIR-FIGF XU 0.378543 0.4634 Uncertain X_15540299_T->C X 15540299 15540299 T C snp 172.9 1/1 15 5 0 5 1.0 intronic rs1476524 BMX XU NM_001721 exon7 c.13992-169T>C 0.689536 0.983 Uncertain X_15552564_T->C X 15552564 15552564 T C snp 392.77 1/1 30 15 0 15 1.0 intronic rs1877752 BMX XU NM_001721 exon12 c.25986+102T>C 0.682384 0.9817 Uncertain X_15552573_-->A X 15552573 15552573 - A indel 268.74 1/1 27 11 0 11 1.0 intronic rs34879154 BMX XU NM_001721 exon12 c.25986+111insA 0.682649 0.9817 Uncertain X_15554602_T->G X 15554602 15554602 T G snp 225.84 1/1 18 7 0 7 1.0 intronic rs28505625 BMX XU NM_001721 exon13 c.28074+52T>G 0.698013 0.9817 0.568731 0.6878 0.9822 Uncertain X_15588271_C->G X 15588271 15588271 C G snp 176.9 1/1 15 5 0 5 1.0 intronic rs4646174 ACE2 XU NM_021804 exon5 c.8390-146C>G 0.683179 0.9634 Uncertain X_15596143_-->ATAAG X 15596143 15596143 - ATAAG indel 904.73 1/1 36 12 0 12 1.0 intronic rs113691336 ACE2 XU NM_021804 exon10 c.16184-68insATAAG 0.834172 0.9935 Uncertain X_15607650_T->C X 15607650 15607650 T C snp 93.28 1/1 9 6 0 6 1.0 intronic rs971249 ACE2 XU NM_021804 exon14 c.27552+71T>C 0.803179 0.9935 Uncertain X_15677315_-->CA X 15677315 15677315 - CA indel 496.73 1/1 39 24 0 24 1.0 intronic rs374840378 TMEM27 XU NM_020665 exon4 c.31131+91insCA 0.000529801 Uncertain X_15706830_C->A X 15706830 15706830 C A snp 327.78 1/1 27 52 15 37 0.71 ncRNA_exonic rs4060 CA5BP1 XU 0.70596 0.9293 Uncertain X_15711209_C->T X 15711209 15711209 C T snp 1450.77 1/1 99 49 0 49 1.0 ncRNA_intronic rs1996225 CA5BP1 XU 0.577748 0.7356 0.4617 0.7050 Uncertain X_15794764_G->A X 15794764 15794764 G A snp 306.78 1/1 24 10 0 10 1.0 intronic rs5980183 CA5B XU NM_007220 exon7 c.26690-72G>A 0.646358 0.5995 Uncertain X_15794815_G->A X 15794815 15794815 G A snp 810.77 1/1 60 28 0 28 1.0 intronic rs5936050 CA5B XU NM_007220 exon7 c.26690-21G>A 0.997351 1 0.993657 0.9928 1 Uncertain X_15808795_T->C X 15808795 15808795 T C snp 734.77 1/1 54 25 0 25 1.0 intronic rs4830994 ZRSR2 XU NM_005089 exon1 c.41+136T>C 0.997351 1 Uncertain X_15817963_A->G X 15817963 15817963 A G snp 779.77 1/1 57 29 0 29 1.0 intronic rs5980192 ZRSR2 XU NM_005089 exon3 c.9376-31A>G 0.895629 0.9791 0.799186 0.8065 0.9876 Uncertain X_15818115_T->- X 15818115 15818115 T - indel 751.73 1/1 60 24 0 24 1.0 intronic rs62985661 ZRSR2 XU NM_005089 exon3 c.9458+39delT 0.569007 0.6021 0.523567 0.5317 0.6355 Uncertain X_15822022_C->T X 15822022 15822022 C T snp 978.77 1/1 72 34 0 34 1.0 intronic rs5934280 ZRSR2 XU NM_005089 exon4 c.13301+103C>T 0.567417 0.5942 Uncertain X_15826556_T->C X 15826556 15826556 T C snp 152.9 1/1 15 6 0 6 1.0 intronic rs5936061 ZRSR2 XU NM_005089 exon6 c.17776+162T>C 0.551258 0.6165 Uncertain X_15827524_T->G X 15827524 15827524 T G snp 907.77 1/1 66 37 0 37 1.0 intronic rs5980193 ZRSR2 XU NM_005089 exon7 c.18823+83T>G 0.897219 0.9791 Uncertain X_15827563_C->T X 15827563 15827563 C T snp 610.77 1/1 45 20 0 20 1.0 intronic rs6629131 ZRSR2 XU NM_005089 exon7 c.18823+122C>T 0.619073 0.5982 Uncertain X_15836648_T->G X 15836648 15836648 T G snp 2132.77 1/1 99 74 0 74 1.0 intronic rs5936062 ZRSR2 XU NM_005089 exon9 c.28091-61T>G 0.57404 0.6021 0.535000 Uncertain X_15838366_C->T X 15838366 15838366 C T snp 3160.77 1/1 99 111 0 111 1.0 exonic rs2301724 ZRSR2 XU synonymous SNV NM_005089 exon10 c.C864T p.N288N 0.557616 0.5942 0.507905 0.5261 0.6243 ID=COSM3759436;OCCURENCE=1(large_intestine) Uncertain X_16608793_G->A X 16608793 16608793 G A snp 1318.77 1/1 93 49 0 49 1.0 intronic rs1527805 CTPS2 XU 0.98649 1 Uncertain X_16762002_A->G X 16762002 16762002 A G snp 1264.77 1/1 90 43 0 43 1.0 intronic rs4830562 SYAP1 XU NM_032796 exon5 c.24116+39A>G 0.867285 0.9437 0.853640 0.8406 0.9417 Uncertain X_16872016_T->- X 16872016 16872016 T - indel 138.37 1/1 8 13 1 12 0.92 intronic rs11305571 RBBP7 XU NM_002893 exon7 c.8808+51delT 0.601325 0.8194 0.5231 0.7607 Uncertain X_16873058_A->C X 16873058 16873058 A C snp 493.77 1/1 39 14 0 14 1.0 intronic rs5924532 RBBP7 XU NM_002893 exon7 c.8808+1093A>C 0.624106 0.8639 Uncertain X_16873109_TT->- X 16873109 16873110 TT - indel 347.5 0/1 3 21 2 19 0.9 intronic rs150641871 RBBP7 XU NM_002893 exon7 c.8808+1144_8808+1145delTT 0.656424 0.8639 Uncertain X_16873177_T->- X 16873177 16873177 T - indel 185.73 0/1 96 23 8 15 0.65 intronic rs66524293 RBBP7 XU NM_002893 exon7 c.8808+1212delT 0.573245 0.8613 Uncertain X_16876980_G->A X 16876980 16876980 G A snp 2051.77 1/1 99 75 0 75 1.0 intronic rs4828536 RBBP7 XU NM_002893 exon9 c.13815+8G>A 0.557351 0.8639 0.440027 0.4783 0.8701 Uncertain X_17070688_G->A X 17070688 17070688 G A snp 221.84 1/1 18 7 0 7 1.0 intronic rs933946 REPS2 XU NM_001080975 exon7 c.105584+120G>A 0.858278 0.9791 Uncertain X_17073092_C->T X 17073092 17073092 C T snp 662.77 1/1 48 25 0 25 1.0 intronic rs73189116 REPS2 XU NM_001080975 exon8 c.108089+19C>T 0.17245 0.2814 0.178832 0.2213 0.2834 Uncertain X_17092152_G->T X 17092152 17092152 G T snp 1517.77 1/1 99 53 0 53 1.0 intronic rs1346246 REPS2 XU NM_001080975 exon12 c.127252-84G>T 0.871788 0.9791 Uncertain X_17157148_T->A X 17157148 17157148 T A snp 851.77 1/1 60 34 0 34 1.0 intronic rs1946395 REPS2 XU NM_001080975 exon17 c.192100+64T>A 0.887152 0.9935 Uncertain X_17705850_-->T X 17705850 17705850 - T indel 4922.73 1/1 99 125 0 125 1.0 intronic rs397759640 NHS XD,XL NM_001136024 exon2 c.52175-11insT 1.0000 1 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000082806.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain X_17710354_T->- X 17710354 17710354 T - indel 272.27 1/1 1 16 2 14 0.88 intronic rs11347866 NHS XD,XL NM_001136024 exon3 c.56768-100delT 0.353113 0.2984 Uncertain X_17746244_T->C X 17746244 17746244 T C snp 3527.77 1/1 99 131 0 131 1.0 exonic rs3747295 NHS XD,XL nonsynonymous SNV NM_198270 exon6 c.T3955C p.F1319L 0.395497 0.4359 0.312790 0.1751 0.4396 0.77 T 0.0 P -0.990 T 0.0 T 0.0 T Pathogenic X_17819377_T->C X 17819377 17819377 T C snp 1318.77 1/1 96 51 0 51 1.0 exonic rs6527818 RAI2 XU nonsynonymous SNV NM_021785 exon2 c.A754G p.M252V 0.99947 1 0.999527 0.9993 1 1 T 0.000 P -0.956 T 0.0 T 0.0 T Pathogenic X_18238923_G->A X 18238923 18238923 G A snp 2789.77 1/1 99 91 0 91 1.0 UTR5 rs139948763 BEND2 XU 0.010596 0.051 Uncertain X_18597869_C->A X 18597869 18597869 C A snp 472.77 1/1 36 13 0 13 1.0 intronic rs4825261 CDKL5 XD NM_003159 exon6 c.72751-98C>A 0.351523 0.4777 CLINSIG=untested|non-pathogenic;CLNDBN=not_provided|not_specified;CLNREVSTAT=no_assertion_provided|no_assertion_criteria_provided;CLNACC=RCV000144132.1|RCV000169962.1;CLNDSDB=MedGen|MedGen;CLNDSDBID=CN221809|CN169374 Uncertain X_18638204_T->A X 18638204 18638204 T A snp 176.9 1/1 15 5 0 5 1.0 intronic rs3752484 CDKL5 XD NM_003159 exon16 c.112870+118T>A 0.571126 0.6832 CLINSIG=untested|non-pathogenic;CLNDBN=not_provided|not_specified;CLNREVSTAT=no_assertion_provided|no_assertion_criteria_provided;CLNACC=RCV000144126.1|RCV000169958.1;CLNDSDB=MedGen|MedGen;CLNDSDBID=CN221809|CN169374 Uncertain X_18929129_T->- X 18929129 18929129 T - indel 603.73 1/1 54 36 1 35 0.97 intronic rs11291764 PHKA2 XR NM_000292 exon14 c.17476+51delT 0.864636 0.8887 0.8046 0.8361 Uncertain X_19373647_-->GGCCAA X 19373647 19373647 - GGCCAA indel 5874.73 1/1 99 101 0 101 1.0 intronic rs745992562 PDHA1 XD NM_001173456 exon6 c.11467+25insGGCCAA 0.0121 0.0054 Uncertain X_19375782_A->C X 19375782 19375782 A C snp 1787.77 1/1 99 63 0 63 1.0 exonic rs2229137 PDHA1 XD nonsynonymous SNV NM_000284 exon9 c.A844C p.M282L 0.0495364 0.2356 0.001136 0.0207 0.2537 1 T 1.000 P -0.618 T 0.002 T 0.086 T CLINSIG=pathogenic|non-pathogenic;CLNDBN=Pyruvate_dehydrogenase_E1-alpha_deficiency|not_provided;CLNREVSTAT=no_assertion_criteria_provided|criteria_provided\x2c_single_submitter;CLNACC=RCV000011632.5|RCV000127400.1;CLNDSDB=MedGen:OMIM:Orphanet|MedGen;CLNDSDBID=C1839414:312170:ORPHA79243|CN221809 ID=CM950922;DIS=Pyruvate dehydrogenase deficiency;TAG=DM?;PUB=8032855 DM? Pathogenic X_19478294_T->A X 19478294 19478294 T A snp 606.77 1/1 45 23 0 23 1.0 intronic rs5909118 MAP3K15 XU NM_001001671 exon25 c.99405+23T>A 0.889272 0.9948 0.861169 0.9196 0.9888 Uncertain X_19478336_-->A X 19478336 19478336 - A indel 337.74 1/1 30 12 0 12 1.0 intronic rs397717548 MAP3K15 XU NM_001001671 exon25 c.99405+65insA 0.676026 0.9045 Uncertain X_19482476_C->T X 19482476 19482476 C T snp 2162.77 1/1 99 80 0 80 1.0 exonic rs5909299 MAP3K15 XU nonsynonymous SNV NM_001001671 exon4 c.G574A p.A192T 0.67947 0.8927 0.677908 0.8444 0.8897 0.1 T 0.0 P -1.141 T Pathogenic X_19688957_C->A X 19688957 19688957 C A snp 35.77 0/1 64 47 37 10 0.21 intronic rs373063866 SH3KBP1 XU NM_001184960 exon13 c.134445-22C>A Uncertain X_22129512_C->T X 22129512 22129512 C T snp 2086.77 1/1 99 73 0 73 1.0 intronic rs4824224 PHEX XD NM_000444 exon10 c.78461-72C>T 0.238411 0.305 Uncertain X_22291606_C->A X 22291606 22291606 C A snp 3669.77 1/1 99 122 0 122 1.0 exonic rs5951426 ZNF645 XU nonsynonymous SNV NM_152577 exon1 c.C498A p.D166E 0.406093 0.4476 0.317807 0.2326 0.4773 0.9 T 0.0 P -0.958 T 0.0 T 0.0 T Pathogenic X_22291732_C->T X 22291732 22291732 C T snp 4108.77 1/1 99 144 0 144 1.0 exonic rs6629461 ZNF645 XU synonymous SNV NM_152577 exon1 c.C624T p.I208I 0.268609 0.449 0.163969 0.1921 0.4786 Uncertain X_23682589_T->G X 23682589 23682589 T G snp 230.84 1/1 18 9 0 9 1.0 intergenic rs4828890 PTCHD1 XR 0.167682 0.3822 0.1190 0.3875 Uncertain X_23682877_T->C X 23682877 23682877 T C snp 763.77 1/1 57 27 0 27 1.0 intergenic rs477914 PTCHD1 XR 0.86649 0.9267 0.8956 0.9425 Uncertain X_23682976_A->G X 23682976 23682976 A G snp 137.03 1/1 12 5 0 5 1.0 intergenic rs476316 PTCHD1 XR 0.903576 0.9267 Uncertain X_23685964_T->C X 23685964 23685964 T C snp 2687.77 1/1 99 101 0 101 1.0 intronic rs496067 PRDX4 XU NM_006406 exon1 c.241+36T>C 0.65298 0.7605 0.598674 0.6194 0.7530 Uncertain X_23689636_A->T X 23689636 23689636 A T snp 1475.77 1/1 99 53 0 53 1.0 intronic rs513572 PRDX4 XU NM_006406 exon2 c.3958-9A>T 0.647417 0.7579 0.356054 0.6038 0.7446 Uncertain X_23689637_T->C X 23689637 23689637 T C snp 1479.77 1/1 99 53 0 53 1.0 intronic rs513573 PRDX4 XU NM_006406 exon2 c.3958-8T>C 0.647152 0.7579 0.361545 0.6040 0.7450 Uncertain X_23697485_G->A X 23697485 23697485 G A snp 339.78 1/1 27 10 0 10 1.0 intronic rs795493 PRDX4 XU NM_006406 exon4 c.11717+81G>A 0.646887 0.7579 Uncertain X_23700473_G->A X 23700473 23700473 G A snp 435.77 1/1 33 15 0 15 1.0 intronic rs552105 PRDX4 XU NM_006406 exon5 c.14825-39G>A 0.647152 0.7592 0.588564 0.6030 0.7444 Uncertain X_23700693_A->G X 23700693 23700693 A G snp 744.77 1/1 54 29 0 29 1.0 intronic rs795489 PRDX4 XU NM_006406 exon5 c.14956+50A>G 0.412185 0.517 0.377201 0.4277 0.5002 Uncertain X_23701662_G->A X 23701662 23701662 G A snp 399.77 1/1 30 14 0 14 1.0 intronic rs2665364 PRDX4 XU NM_006406 exon6 c.16100-125G>A 0.647417 0.7592 Uncertain X_23723261_T->C X 23723261 23723261 T C snp 1776.77 1/1 99 63 0 63 1.0 intronic rs2270142 ACOT9 XU NM_001037171 exon3 c.1187+64T>C 0.522384 0.5497 Uncertain X_23739857_A->G X 23739857 23739857 A G snp 143.03 1/1 12 5 0 5 1.0 intronic rs5970601 ACOT9 XU NM_001037171 exon9 c.17987-140A>G 0.748344 0.805 Uncertain X_23761122_A->C X 23761122 23761122 A C snp 848.77 1/1 63 29 0 29 1.0 intronic rs3764883 ACOT9 XU NM_001037171 exon16 c.39231-119A>C 0.447682 0.6702 Uncertain X_23801593_A->G X 23801593 23801593 A G snp 303.78 1/1 24 11 0 11 1.0 intronic rs3764885 SAT1 XU NM_002970 exon1 c.66+59A>G 0.686887 0.6387 0.742222 Uncertain X_23801702_G->C X 23801702 23801702 G C snp 306.78 1/1 24 10 0 10 1.0 intronic rs3764884 SAT1 XU NM_002970 exon2 c.306-72G>C 0.639205 0.6401 0.680111 Uncertain X_23858452_G->A X 23858452 23858452 G A snp 713.03 1/1 12 31 2 29 0.94 UTR3 rs8680 APOO XU 0.648742 0.6505 0.487027 0.4457 0.6251 Uncertain X_23858688_A->G X 23858688 23858688 A G snp 165.9 1/1 15 5 0 5 1.0 intronic rs7886064 APOO XU NM_024122 exon2 c.36+194A>G 0.669669 0.6505 Uncertain X_23899112_C->T X 23899112 23899112 C T snp 2902.77 1/1 99 115 0 115 1.0 intronic rs112978835 APOO XU NM_024122 exon8 c.40611+43C>T 0.262781 0.5249 0.083878 0.1949 0.5005 Uncertain X_23925834_A->T X 23925834 23925834 A T snp 1130.77 1/1 81 41 0 41 1.0 UTR5 rs5970618 APOO XU 0.381722 0.5851 0.175262 0.3426 0.5806 Uncertain X_23945611_G->T X 23945611 23945611 G T snp 101.28 1/1 9 4 0 4 1.0 intronic rs2707144 CXorf58 XU NM_001169574 exon6 c.17068+124G>T 0.79894 0.9018 Uncertain X_24007151_A->G X 24007151 24007151 A G snp 1324.77 1/1 96 45 0 45 1.0 splicing rs5925972 KLHL15 XU NM_030624 exon1 c.1110+4A>G 0.290861 0.5484 0.130314 0.2582 0.5160 Pathogenic X_24381387_G->C X 24381387 24381387 G C snp 4285.77 1/1 99 147 0 147 1.0 exonic rs1207577 SUPT20HL1 XU synonymous SNV NM_001136234 exon1 c.G510C p.T170T 0.539338 0.4516 0.409600 0.4068 0.3888 Uncertain X_24382373_-->TGCTGCTGC X 24382373 24382373 - TGCTGCTGC indel 2716.73 1/1 38 82 1 81 0.99 exonic rs756344204 SUPT20HL1 XU nonframeshift insertion NM_001136234 exon1 c.1496_1497insTGCTGCTGC p.I499delinsIAAA 0.0443 0.0267 Uncertain X_24382792_G->A X 24382792 24382792 G A snp 1380.77 1/1 99 45 0 45 1.0 exonic rs5944420 SUPT20HL1 XU nonsynonymous SNV NM_001136234 exon1 c.G1915A p.A639T 0.136689 0.1636 0.102166 0.1665 0.1558 Pathogenic X_24536955_CACACACACA->- X 24536955 24536964 CACACACACA - indel 1422.73 1/1 39 13 0 13 1.0 intronic rs771489505 PDK3 XD NM_005391 exon6 c.53477-94_53477-85delCACACACACA Uncertain X_24546463_G->T X 24546463 24546463 G T snp 139.03 1/1 12 4 0 4 1.0 intronic rs5986581 PDK3 XD NM_005391 exon9 c.62731+160G>T 0.131656 0.1401 Uncertain X_24557178_A->G X 24557178 24557178 A G snp 538.77 1/1 39 21 0 21 1.0 intronic rs6629876 PDK3 XD NM_001142386 exon12 c.73678-72A>G 0.0272848 0.0641 Uncertain X_24608394_C->A X 24608394 24608394 C A snp 256.8 1/1 21 7 0 7 1.0 intronic rs6629883 PCYT1B XU NM_004845 exon5 c.27882+103C>A 0.151788 0.2382 Uncertain X_24665273_G->A X 24665273 24665273 G A snp 685.77 1/1 51 26 0 26 1.0 UTR5 rs1207651 PCYT1B XU 0.193113 0.305 0.161980 0.2023 0.2787 Uncertain X_24751958_T->C X 24751958 24751958 T C snp 309.78 1/1 24 11 0 11 1.0 intronic rs4058344 POLA1 XR NM_016937 exon17 c.39855+25T>C 1 1 1.0000 1 Uncertain X_24831090_A->G X 24831090 24831090 A G snp 94.28 1/1 9 3 0 3 1.0 intronic rs5944681 POLA1 XR NM_016937 exon29 c.118902+110A>G 0.243974 0.3508 Uncertain X_26157220_C->T X 26157220 26157220 C T snp 3247.77 1/1 99 124 0 124 1.0 exonic rs5944317 MAGEB18 XU nonsynonymous SNV NM_173699 exon2 c.C118T p.P40S 0.739868 0.9149 0.556576 0.5827 0.9331 1 T 0.0 P -0.920 T 0.001 T 0.0 T Pathogenic X_26157792_C->T X 26157792 26157792 C T snp 1883.77 1/1 99 63 0 63 1.0 exonic rs5944318 MAGEB18 XU synonymous SNV NM_173699 exon2 c.C690T p.A230A 0.740397 0.9149 0.556481 0.6185 0.9378 Uncertain X_26179532_A->G X 26179532 26179532 A G snp 3708.77 1/1 99 134 0 134 1.0 intergenic rs5943854 MAGEB18 XU 0.741457 0.9149 0.532376 0.5793 0.9321 Uncertain X_27765400_GAG->- X 27765400 27765402 GAG - indel 682.73 1/1 45 27 0 27 1.0 exonic rs759326288 DCAF8L2 XU nonframeshift deletion NM_001136533 exon1 c.388_390del p.130_130del Uncertain X_28807345_G->A X 28807345 28807345 G A snp 139.03 1/1 12 4 0 4 1.0 intronic rs12009069 IL1RAPL1 XR 0.443709 0.449 Uncertain X_28807442_G->A X 28807442 28807442 G A snp 689.77 1/1 51 24 0 24 1.0 UTR5 rs6526806 IL1RAPL1 XR 0.735099 0.8351 0.637913 0.6013 0.8412 Uncertain X_29417510_C->A X 29417510 29417510 C A snp 185.9 1/1 15 6 0 6 1.0 intronic rs4829347 IL1RAPL1 XR NM_014271 exon5 c.609965+85C>A 0.997881 0.9895 Uncertain X_30236878_G->A X 30236878 30236878 G A snp 2024.77 1/1 99 68 0 68 1.0 exonic rs2529541 MAGEB2 XU nonsynonymous SNV NM_002364 exon2 c.G181A p.E61K 0.89351 0.7147 0.962643 0.9252 0.7284 0.89 T 0.0 P -1.012 T 0.0 T 0.004 T Pathogenic X_30254361_G->A X 30254361 30254361 G A snp 1126.77 1/1 81 36 0 36 1.0 exonic rs2071308 MAGEB3 XU nonsynonymous SNV NM_002365 exon5 c.G320A p.R107H 0.46649 0.5288 0.407253 0.4702 0.5490 0.6 T 0.0 P -0.932 T 0.0 T 0.0 T Pathogenic X_30254376_T->C X 30254376 30254376 T C snp 1176.77 1/1 87 38 0 38 1.0 exonic rs2071309 MAGEB3 XU nonsynonymous SNV NM_002365 exon5 c.T335C p.I112T 0.805563 0.5628 0.896317 0.8609 0.5708 1 T 0.0 P -0.944 T 0.0 T 0.0 T Pathogenic X_30254530_A->G X 30254530 30254530 A G snp 1378.77 1/1 99 45 0 45 1.0 exonic rs2071310 MAGEB3 XU synonymous SNV NM_002365 exon5 c.A489G p.V163V 0.46649 0.5288 0.407821 0.4625 0.5407 Uncertain X_30261002_A->G X 30261002 30261002 A G snp 1664.77 1/1 99 53 0 53 1.0 exonic rs2071311 MAGEB4 XU synonymous SNV NM_002367 exon1 c.A750G p.V250V 0.805828 0.5641 0.896317 0.8576 0.5664 Uncertain X_30261158_G->C X 30261158 30261158 G C snp 3353.77 1/1 99 118 0 118 1.0 exonic rs2856733 MAGEB4 XU synonymous SNV NM_002367 exon1 c.G906C p.L302L 0.805828 0.5641 0.896317 0.8567 0.5649 Uncertain X_30323916_T->G X 30323916 30323916 T G snp 451.77 1/1 33 17 0 17 1.0 intronic rs3788891 NR0B1 XR,XL NM_000475 exon1 c.245+976T>G 0.523179 0.7356 0.318847 0.3724 0.7348 Uncertain X_30326983_C->T X 30326983 30326983 C T snp 2508.77 1/1 99 98 0 98 1.0 exonic rs2269345 NR0B1 XR,XL synonymous SNV NM_000475 exon1 c.G498A p.R166R 0.476556 0.7264 0.282797 0.3984 0.7476 Uncertain X_30577846_A->C X 30577846 30577846 A C snp 2501.77 1/1 99 84 0 84 1.0 exonic rs887369 CXorf21 XU synonymous SNV NM_025159 exon3 c.T627G p.V209V 0.897219 0.9372 0.804280 0.8242 0.9457 Uncertain X_30671896_G->C X 30671896 30671896 G C snp 530.77 1/1 39 17 0 17 1.0 intronic rs12854653 GK XR NM_203391 exon1 c.78+164G>C 0.704901 0.6191 Uncertain X_30709444_G->A X 30709444 30709444 G A snp 179.9 1/1 15 6 0 6 1.0 intronic rs55895067 GK XR NM_203391 exon5 c.37662+128G>A 0.315232 0.3822 Uncertain X_30712796_G->C X 30712796 30712796 G C snp 747.77 1/1 54 26 0 26 1.0 intronic rs5927587 GK XR NM_203391 exon6 c.41000+142G>C 0.833377 0.7683 Uncertain X_30715827_C->T X 30715827 30715827 C T snp 3509.77 1/1 99 131 0 131 1.0 intronic rs2035432 GK XR NM_203391 exon9 c.44194-21C>T 0.788079 0.7657 0.755610 0.7690 0.7777 Uncertain X_30725794_C->T X 30725794 30725794 C T snp 190.9 1/1 15 8 0 8 1.0 intronic rs4617310 GK XR NM_203391 exon12 c.54061+79C>T 0.708344 0.7644 0.646425 Uncertain X_30739293_T->C X 30739293 30739293 T C snp 178.9 1/1 15 5 0 5 1.0 intronic rs36091714 GK XR NM_203391 exon18 c.67458+181T>C 0.323444 0.3835 Uncertain X_30742593_A->- X 30742593 30742593 A - indel 342.73 1/1 39 13 0 13 1.0 intronic rs75486718 GK XR NM_203391 exon19 c.70644+295delA 0.667285 0.7618 Uncertain X_30745790_A->T X 30745790 30745790 A T snp 453.77 1/1 33 18 0 18 1.0 intronic rs5927596 GK XR NM_001205019 exon20 c.74015+121A>T 0.752318 0.7696 Uncertain X_30872602_A->G X 30872602 30872602 A G snp 3085.77 1/1 99 109 0 109 1.0 exonic rs5927629 TAB3 XU nonsynonymous SNV NM_152787 exon6 c.T1180C p.W394R 1 1 0.999811 1.0000 1 1 T 0.000 P -0.940 T 0.0 T 0.0 T Pathogenic X_31165310_C->T X 31165310 31165310 C T snp 1138.22 1/1 4 51 4 47 0.92 intronic rs1484852 DMD XR,XL NM_004012 exon5 c.25356-81C>T 0.18543 0.4045 Uncertain X_31165668_AAAG->- X 31165668 31165671 AAAG - indel 255.87 1/1 15 10 0 10 1.0 intronic rs200534475 DMD XR,XL NM_004012 exon5 c.25600+33_25600+36delAAAG 0.639735 0.695 0.678695 0.7589 0.6847 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000080424.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain X_31191589_C->T X 31191589 31191589 C T snp 511.77 1/1 39 16 0 16 1.0 intronic rs2404496 DMD XR,XL NM_004012 exon8 c.51620-66C>T 0.890331 0.8429 0.886326 Uncertain X_31224684_A->G X 31224684 31224684 A G snp 1986.77 1/1 99 70 0 70 1.0 intronic rs2293668 DMD XR,XL NM_004012 exon14 c.84663-14A>G 0.803974 0.788 0.826466 0.8836 0.8401 CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter|criteria_provided\x2c_single_submitter;CLNACC=RCV000080853.3|RCV000124715.1;CLNDSDB=MedGen|MedGen;CLNDSDBID=CN169374|CN221809 Uncertain X_31224881_G->A X 31224881 31224881 G A snp 1142.77 1/1 84 37 0 37 1.0 intronic rs2293667 DMD XR,XL NM_004012 exon14 c.84749+97G>A 0.803974 0.7866 Uncertain X_31496350_C->T X 31496350 31496350 C T snp 2397.77 1/1 99 91 0 91 1.0 exonic rs1800280 DMD XR,XL nonsynonymous SNV NM_004006 exon59 c.G8810A p.R2937Q 0.881854 0.928 0.956822 0.9045 0.9234 0.82 T 0.000 P -0.945 T 0.0 T 0.001 T CLINSIG=non-pathogenic,non-pathogenic;CLNDBN=not_provided,not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter,criteria_provided\x2c_single_submitter;CLNACC=RCV000124712.1,RCV000152765.2;CLNDSDB=MedGen,MedGen;CLNDSDBID=CN221809,CN169374 ID=CM135605;DIS=Muscular dystrophy, Duchenne;TAG=DM?;PUB=23438214 DM? Pathogenic X_31697636_A->G X 31697636 31697636 A G snp 3002.77 1/1 99 125 5 120 0.96 exonic rs1801188 DMD XR,XL synonymous SNV NM_004006 exon53 c.T7728C p.N2576N 0.181192 0.3809 0.167882 0.1713 0.3561 1.000 P CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter|criteria_provided\x2c_single_submitter;CLNACC=RCV000080769.3|RCV000124706.1;CLNDSDB=MedGen|MedGen;CLNDSDBID=CN169374|CN221809 Uncertain X_31986430_C->A X 31986430 31986430 C A snp 652.03 1/1 12 22 1 21 0.95 intronic rs3761604 DMD XR,XL NM_004012 exon35 c.846420-25C>A 0.329007 0.4215 0.263716 0.3293 0.4398 Uncertain X_31986774_C->T X 31986774 31986774 C T snp 56.74 1/1 6 2 0 2 1.0 intronic rs3761605 DMD XR,XL NM_004012 exon35 c.846596+143C>T 0.339868 0.4215 Uncertain X_32235295_C->T X 32235295 32235295 C T snp 252.8 1/1 21 7 0 7 1.0 intronic rs3747400 DMD XR,XL NM_004012 exon36 c.1095145+115C>T 0.368212 0.4987 Uncertain X_32305619_A->T X 32305619 32305619 A T snp 1405.77 1/1 99 46 0 46 1.0 intronic rs3788896 DMD XR,XL NM_004012 exon37 c.1165610-26A>T 0.228344 0.4123 0.116856 0.1184 0.3786 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000080690.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain X_32360139_TT->- X 32360139 32360140 TT - indel 1114.73 1/1 84 28 0 28 1.0 intronic rs3833416 DMD XR,XL NM_004012 exon39 c.1220181-77_1220181-76delTT Uncertain X_32380996_C->T X 32380996 32380996 C T snp 1681.77 1/1 99 61 0 61 1.0 exonic rs1801187 DMD XR,XL nonsynonymous SNV NM_004006 exon37 c.G5234A p.R1745H 0.465166 0.6976 0.333112 0.5142 0.7371 0.29 T 1.0 P -0.904 T 1.0 D 0.997 D CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=not_specified|not_provided;CLNREVSTAT=criteria_provided\x2c_single_submitter|criteria_provided\x2c_single_submitter;CLNACC=RCV000080647.3|RCV000124746.1;CLNDSDB=MedGen|MedGen;CLNDSDBID=CN169374|CN221809 Pathogenic X_32383034_C->T X 32383034 32383034 C T snp 431.77 1/1 33 11 0 11 1.0 intronic rs5927975 DMD XR,XL NM_004012 exon45 c.1243101-102C>T 0.554967 0.7042 Uncertain X_32383469_C->T X 32383469 32383469 C T snp 141.03 1/1 12 4 0 4 1.0 intronic rs5927976 DMD XR,XL NM_004012 exon45 c.1243281+153C>T 0.743046 0.7565 Uncertain X_32459169_G->A X 32459169 32459169 G A snp 250.8 1/1 21 9 0 9 1.0 intronic rs41303185 DMD XR,XL NM_004006 exon52 c.1319261-127G>A 0.394172 0.7068 Uncertain X_32503194_T->C X 32503194 32503194 T C snp 2664.77 1/1 99 96 0 96 1.0 exonic rs228406 DMD XR,XL nonsynonymous SNV NM_004006 exon21 c.A2645G p.D882G 0.748344 0.8717 0.650223 0.7211 0.8837 0.59 T 1.000 P -0.978 T 0.004 T 0.013 T CLINSIG=non-pathogenic,non-pathogenic;CLNDBN=not_provided,not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter,no_assertion_criteria_provided;CLNACC=RCV000124736.1,RCV000152984.2;CLNDSDB=MedGen,MedGen;CLNDSDBID=CN221809,CN169374 Pathogenic X_32563488_A->C X 32563488 32563488 A C snp 756.77 1/1 57 26 0 26 1.0 intronic rs115571 DMD XR,XL NM_004006 exon63 c.1423416+37A>C 0.796026 0.9529 0.707698 0.7207 0.9529 Uncertain X_32614103_C->T X 32614103 32614103 C T snp 90.28 1/1 9 3 0 3 1.0 intronic rs808543 DMD XR,XL NM_004006 exon67 c.1473958+110C>T 0.626225 0.5484 Uncertain X_34674970_C->G X 34674970 34674970 C G snp 309.78 1/1 24 9 0 9 1.0 exonic rs5928617 TMEM47 XU synonymous SNV NM_031442 exon1 c.G177C p.R59R 0.418278 0.6427 0.258757 0.4081 0.6295 Uncertain X_34962909_A->C X 34962909 34962909 A C snp 1900.77 1/1 99 62 1 61 0.98 UTR3 rs6632131 FAM47B XU 0.477086 0.7395 0.305753 0.3592 0.7367 Uncertain X_35820265_C->T X 35820265 35820265 C T snp 2866.77 1/1 99 97 0 97 1.0 UTR5 rs5928990 MAGEB16 XU 0.527417 0.7513 0.442152 0.5694 0.7697 Uncertain X_35820425_C->T X 35820425 35820425 C T snp 4659.77 1/1 99 174 0 174 1.0 exonic rs1410961 MAGEB16 XU nonsynonymous SNV NM_001099921 exon2 c.C112T p.L38F 0.619868 0.7513 0.554433 0.5868 0.7728 0.75 T 0.0 P -0.938 T 0.0 T 0.0 T Pathogenic X_35820696_G->A X 35820696 35820696 G A snp 1583.77 1/1 99 55 0 55 1.0 exonic rs1410962 MAGEB16 XU nonsynonymous SNV NM_001099921 exon2 c.G383A p.C128Y 0.620132 0.7513 0.552243 0.5768 0.7666 1 T 0.0 P -0.972 T 0.0 T 0.0 T Pathogenic X_35820795_A->G X 35820795 35820795 A G snp 1548.77 1/1 99 51 0 51 1.0 exonic rs5973488 MAGEB16 XU nonsynonymous SNV NM_001099921 exon2 c.A482G p.H161R 0.620132 0.7526 0.552489 0.5746 0.7646 0.6 T 0.0 P -1.035 T 0.001 T 0.01 T Pathogenic X_35821055_A->G X 35821055 35821055 A G snp 1126.77 1/1 81 37 0 37 1.0 exonic rs4829390 MAGEB16 XU nonsynonymous SNV NM_001099921 exon2 c.A742G p.M248V 0.620397 0.7513 0.113745 0.5726 0.7631 0 D 0.0 P -0.899 T 0.004 T 0.005 T Pathogenic X_35821056_T->A X 35821056 35821056 T A snp 1137.77 1/1 84 38 0 38 1.0 exonic rs4829391 MAGEB16 XU nonsynonymous SNV NM_001099921 exon2 c.T743A p.M248K 0.620662 0.7513 0.109402 0.5722 0.7625 1 T 0.0 P -0.952 T 0.001 T 0.0 T Pathogenic X_35821127_C->T X 35821127 35821127 C T snp 2094.77 1/1 99 74 0 74 1.0 exonic rs4829392 MAGEB16 XU stopgain NM_001099921 exon2 c.C814T p.R272X 0.620397 0.7513 0.544964 0.5787 0.7665 1 T 1.000 P Pathogenic X_35821302_C->G X 35821302 35821302 C G snp 1117.77 1/1 81 37 0 37 1.0 UTR3 rs4829393 MAGEB16 XU 0.620662 0.7513 0.547458 0.6085 0.7811 Uncertain X_35821308_C->T X 35821308 35821308 C T snp 1029.77 1/1 75 34 0 34 1.0 UTR3 rs4829394 MAGEB16 XU 0.619868 0.7513 0.543233 0.5996 0.7784 Uncertain X_35966226_G->A X 35966226 35966226 G A snp 215.84 1/1 18 6 0 6 1.0 intronic rs5973553 CFAP47 XU NM_152632 exon4 c.28514-204G>A 0.34755 0.2448 Uncertain X_35969297_G->A X 35969297 35969297 G A snp 2386.77 1/1 99 89 0 89 1.0 exonic rs2336029 CFAP47 XU nonsynonymous SNV NM_001304548 exon5 c.G706A p.V236M 0.187815 0.2448 0.100653 0.1577 0.2608 0.16 T 0.0 P -1.095 T 1.0 D 0.994 D Pathogenic X_35969499_A->T X 35969499 35969499 A T snp 952.77 1/1 72 30 0 30 1.0 intronic rs6632426 CFAP47 XU NM_152632 exon5 c.31560+23A>T 0.250596 0.2448 0.178521 0.2235 0.3125 Uncertain X_35971670_A->C X 35971670 35971670 A C snp 451.77 1/1 33 18 0 18 1.0 intronic rs6632432 CFAP47 XU NM_152632 exon7 c.33792-38A>C 0.355232 0.3076 0.252155 0.1828 0.3108 Uncertain X_35971684_A->G X 35971684 35971684 A G snp 481.77 1/1 36 19 0 19 1.0 intronic rs6629023 CFAP47 XU NM_152632 exon7 c.33792-24A>G 0.286887 0.2984 0.178839 0.1607 0.3095 Uncertain X_35984887_G->A X 35984887 35984887 G A snp 1902.77 1/1 99 69 0 69 1.0 intronic rs10482306 CFAP47 XU NM_152632 exon9 c.46955+16G>A 0.37404 0.3024 0.282129 0.1942 0.3072 Uncertain X_35988996_T->C X 35988996 35988996 T C snp 635.77 1/1 45 28 0 28 1.0 exonic rs6632446 CFAP47 XU synonymous SNV NM_001304548 exon11 c.T1926C p.L642L 0.20106 0.3024 0.081698 0.1587 0.3397 Uncertain X_35993454_C->T X 35993454 35993454 C T snp 1222.77 1/1 87 42 0 42 1.0 exonic rs6632450 CFAP47 XU synonymous SNV NM_001304548 exon14 c.C2445T p.D815D 0.247682 0.3024 0.130245 0.1511 0.3072 Uncertain X_35993486_G->A X 35993486 35993486 G A snp 775.77 1/1 57 26 0 26 1.0 splicing rs4412518 CFAP47 XU NM_152632 exon14 c.55564+6G>A 0.36053 0.3024 0.258880 0.1939 0.3061 Pathogenic X_36007614_T->G X 36007614 36007614 T G snp 517.77 1/1 39 16 0 16 1.0 exonic rs6629027 CFAP47 XU nonsynonymous SNV NM_152632 exon16 c.T2892G p.F964L 0.272318 0.3024 0.163431 0.1599 0.3086 1 T 0.0 P -0.967 T 0.0 T 0.0 T Pathogenic X_36057261_A->G X 36057261 36057261 A G snp 846.77 1/1 60 34 0 34 1.0 exonic rs6632464 CFAP47 XU synonymous SNV NM_001304548 exon25 c.A3972G p.V1324V 0.267815 0.2997 0.2062 0.3352 Uncertain X_36057341_TTTG->- X 36057341 36057344 TTTG - indel 418.77 1/1 21 9 0 9 1.0 intronic rs201762125 CFAP47 XU NM_001304548 exon25 c.119380+45_119380+48delTTTG 0.246358 0.2932 0.1357 0.2975 Uncertain X_36091509_T->C X 36091509 36091509 T C snp 2447.77 1/1 99 76 0 76 1.0 intronic rs2336656 CFAP47 XU NM_001304548 exon29 c.153565+28T>C 0.424106 0.2749 0.336651 0.2106 0.2858 Uncertain X_36118050_G->A X 36118050 36118050 G A snp 570.77 1/1 42 19 0 19 1.0 intronic rs5973573 CFAP47 XU NM_001304548 exon32 c.180080+54G>A 0.380132 0.2775 Uncertain X_36162684_-->TG X 36162684 36162684 - TG indel 1735.73 1/1 99 36 0 36 1.0 exonic rs112700338 CHDC2 XU frameshift insertion NM_173695 exon11 c.1267_1268insTG p.L423fs 0.394172 0.2997 0.300480 0.2035 0.2921 Pathogenic X_36303871_T->C X 36303871 36303871 T C snp 2361.77 1/1 99 98 2 96 0.98 intronic CFAP47 XU NM_001304548 exon51 c.365925+30T>C 0.322119 0.2657 0.2056 0.2672 Uncertain X_36366583_T->C X 36366583 36366583 T C snp 50.74 1/1 6 2 0 2 1.0 intronic CFAP47 XU NM_001304548 exon58 c.428487+180T>C 0.414305 0.2552 Uncertain X_36371719_T->A X 36371719 36371719 T A snp 1853.77 1/1 99 69 0 69 1.0 exonic CFAP47 XU nonsynonymous SNV NM_001098843 exon15 c.T1112A p.F371Y 0.179073 0.25 0.078889 0.1322 0.2579 1 T 0.0 P -1.005 T 0.0 T 0.001 T Pathogenic X_36385156_A->G X 36385156 36385156 A G snp 1948.77 1/1 99 79 2 77 0.97 exonic CFAP47 XU synonymous SNV NM_001098843 exon17 c.A1437G p.E479E 0.163974 0.2277 0.080322 0.1304 0.2358 Uncertain X_36403036_A->G X 36403036 36403036 A G snp 3414.77 1/1 99 130 0 130 1.0 exonic CFAP47 XU nonsynonymous SNV NM_001098843 exon19 c.A1817G p.H606R 0.391523 0.233 0.330556 0.2667 0.2461 1 T 0.0 P -0.995 T 0.0 T 0.0 T Pathogenic X_37028585_G->C X 37028585 37028585 G C snp 900.77 1/1 66 37 0 37 1.0 exonic FAM47C XU nonsynonymous SNV NM_001013736 exon1 c.G2102C p.R701P 0.0004 0.0054 0.29 T 1 N -1.019 T 0.992 D 0.802 D Pathogenic X_37700477_C->G X 37700477 37700477 C G snp 353.78 1/1 27 14 0 14 1.0 intronic rs720525 DYNLT3 XU NM_006520 exon2 c.531+119C>G 0.0524503 0.123 Uncertain X_37701208_A->G X 37701208 37701208 A G snp 1676.77 1/1 99 57 0 57 1.0 intronic rs5964203 DYNLT3 XU NM_006520 exon3 c.1331+50A>G 0.432318 0.5118 0.285877 0.2811 0.5276 Uncertain X_37883303_-->A X 37883303 37883303 - A indel 227.74 1/1 27 9 0 9 1.0 intronic rs34578085 SYTL5 XU 0.217219 0.305 Uncertain X_38079900_G->C X 38079900 38079900 G C snp 3746.77 1/1 99 139 0 139 1.0 intronic rs6611251 SRPX XU NM_001170751 exon9 c.70985-48G>C 0.17404 0.4463 0.011214 0.1232 0.4390 Uncertain X_38144856_G->A X 38144856 38144856 G A snp 3180.76 1/1 99 121 0 121 1.0 exonic rs12687163 RPGR XR,XL,XU synonymous SNV NM_001034853 exon15 c.C3396T p.N1132N 0.261192 0.6034 0.093268 0.1657 0.5940 CLINSIG=probable-non-pathogenic;CLNDBN=not_provided;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000132610.1;CLNDSDB=MedGen;CLNDSDBID=CN221809 Uncertain X_38160433_T->C X 38160433 38160433 T C snp 88.28 1/1 9 3 0 3 1.0 intronic rs11266204 RPGR XR,XL,XU NM_000328 exon11 c.31621-66T>C 0.282649 0.6113 Uncertain X_38169777_-->A X 38169777 38169777 - A indel 801.73 1/1 78 26 0 26 1.0 intronic rs35587043 RPGR XR,XL,XU NM_000328 exon13 c.40989-90insA 0.776159 0.6976 Uncertain X_38178019_G->A X 38178019 38178019 G A snp 1168.77 1/1 84 40 0 40 1.0 intronic rs3810692 RPGR XR,XL,XU NM_000328 exon15 c.49203-62G>A 0.509139 0.6675 Uncertain X_38182792_C->T X 38182792 38182792 C T snp 128.03 1/1 12 4 0 4 1.0 intronic rs6651585 RPGR XR,XL,XU NM_000328 exon18 c.53899+15C>T 0.371921 0.6309 0.210437 0.2282 0.6331 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000078652.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain X_38260815_G->A X 38260815 38260815 G A snp 224.84 1/1 18 6 0 6 1.0 intronic rs2272721 OTC XR NM_000531 exon5 c.48732+134G>A 0.632053 0.6662 Uncertain X_38262808_G->A X 38262808 38262808 G A snp 569.77 1/1 42 21 0 21 1.0 intronic rs2235125 OTC XR NM_000531 exon6 c.50921-62G>A 0.596556 0.6675 Uncertain X_38271377_-->T X 38271377 38271377 - T indel 513.73 1/1 51 18 0 18 1.0 intronic rs3215429 OTC XR NM_000531 exon9 c.59303+125insT 0.635762 0.6675 Uncertain X_38420766_GCC->- X 38420766 38420768 GCC - indel 1488.73 0/1 99 47 14 33 0.7 UTR5 rs3833408 TSPAN7 XR 0.312053 0.3312 0.2872 0.3415 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000081161.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain X_38420987_G->C X 38420987 38420987 G C snp 825.77 1/1 63 25 0 25 1.0 intronic rs6610150 TSPAN7 XR NM_004615 exon1 c.81+107G>C 0.304901 0.3312 Uncertain X_38422214_T->A X 38422214 38422214 T A snp 1523.77 1/1 99 48 0 48 1.0 intronic rs6610152 TSPAN7 XR NM_004615 exon1 c.81+1334T>A 0.183841 0.2788 0.0862 0.1946 Uncertain X_38425551_C->T X 38425551 38425551 C T snp 764.77 1/1 54 32 0 32 1.0 intronic rs6651709 TSPAN7 XR NM_004615 exon1 c.81+4671C>T 0.228079 0.3233 0.1266 0.2165 Uncertain X_38505492_T->C X 38505492 38505492 T C snp 1199.77 1/1 87 39 0 39 1.0 intronic rs73198486 TSPAN7 XR NM_004615 exon2 c.104575-19882T>C 0.139073 0.2893 0.1640 0.2062 Uncertain X_38515168_G->T X 38515168 38515168 G T snp 385.77 1/1 30 12 0 12 1.0 intronic rs5917614 TSPAN7 XR NM_004615 exon2 c.104575-10206G>T 0.732185 0.9359 Uncertain X_38535174_A->G X 38535174 38535174 A G snp 912.77 1/1 66 31 0 31 1.0 intronic rs4826996 TSPAN7 XR NM_004615 exon5 c.114315+60A>G 0.73351 0.8403 Uncertain X_39932907_T->C X 39932907 39932907 T C snp 3694.77 1/1 99 134 0 134 1.0 exonic rs6520618 BCOR XD synonymous SNV NM_017745 exon4 c.A1692G p.A564A 0.523974 0.6937 0.361519 0.2671 0.7111 Uncertain X_39933339_A->G X 39933339 39933339 A G snp 3946.77 1/1 99 138 0 138 1.0 exonic rs5917933 BCOR XD synonymous SNV NM_017745 exon4 c.T1260C p.D420D 0.903046 0.9594 0.895749 0.8952 0.9744 ID=COSM4156840;OCCURENCE=1(thyroid) Uncertain X_39934488_C->T X 39934488 39934488 C T snp 821.77 1/1 60 30 0 30 1.0 intronic rs6610384 BCOR XD NM_001123383 exon12 c.23072+55C>T 0.384636 0.6819 Uncertain X_40456961_G->C X 40456961 40456961 G C snp 955.77 1/1 72 30 0 30 1.0 intronic rs3112299 ATP6AP2 XR,AR NM_005765 exon5 c.16599+45G>C 0.935894 0.8272 0.939471 0.9207 0.8363 Uncertain X_40499403_C->T X 40499403 40499403 C T snp 50.74 1/1 6 2 0 2 1.0 intronic rs4827221 CXorf38 XU NM_144970 exon5 c.8514+1023C>T 0.436821 0.7421 Uncertain X_40506697_A->G X 40506697 40506697 A G snp 3666.77 1/1 99 138 0 138 1.0 exonic rs6610447 CXorf38 XU synonymous SNV NM_144970 exon1 c.T76C p.L26L 0.976689 1 0.960256 0.9642 1 Uncertain X_40514322_G->A X 40514322 40514322 G A snp 767.77 1/1 57 24 0 24 1.0 intronic rs11266293 MED14 XU NM_004229 exon3 c.3255+10G>A 0.570596 0.6885 0.597368 0.7054 0.6931 Uncertain X_40556492_C->G X 40556492 40556492 C G snp 547.77 1/1 42 20 0 20 1.0 intronic rs5918029 MED14 XU NM_004229 exon19 c.45378+57C>G 0.897219 1 Uncertain X_41077991_A->G X 41077991 41077991 A G snp 617.77 1/1 48 16 0 16 1.0 intronic rs755599098 USP9X XR,XD NM_001039590 exon37 c.94969+141A>G 0.000529801 0.0026 Uncertain X_41202159_G->A X 41202159 41202159 G A snp 701.77 1/1 51 26 0 26 1.0 intronic rs10521420 DDX3X XR,XD NM_001356 exon6 c.8584+70G>A 0.152848 0.3861 Uncertain X_41202729_G->T X 41202729 41202729 G T snp 130.03 1/1 12 5 0 5 1.0 intronic rs59846147 DDX3X XR,XD NM_001356 exon7 c.9099+125G>T 0.144106 0.3848 Uncertain X_41203119_G->A X 41203119 41203119 G A snp 1878.77 1/1 99 70 0 70 1.0 intronic rs2275944 DDX3X XR,XD NM_001356 exon8 c.9570+44G>A 0.728477 0.9686 0.522937 0.5767 0.9650 Uncertain X_41203676_T->G X 41203676 41203676 T G snp 549.77 1/1 42 17 0 17 1.0 intronic rs41305225 DDX3X XR,XD NM_001356 exon10 c.10147+24T>G 0.151258 0.3783 0.043375 0.1076 0.3562 Uncertain X_41333933_C->T X 41333933 41333933 C T snp 1089.77 1/1 78 42 0 42 1.0 exonic rs187149252 NYX XR synonymous SNV NM_022567 exon2 c.C1227T p.T409T 0.00264901 0.0131 0.0028 0.0303 Uncertain X_41524789_ATCCAAATAAAAAGTT->- X 41524789 41524804 ATCCAAATAAAAAGTT - indel 3089.73 1/1 48 20 0 20 1.0 intronic rs200400188 CASK XU,XD NM_001126054 exon20 c.145033+84_145033+99delATCCAAATAAAAAGTT 0.554172 0.8547 Uncertain X_41554814_T->C X 41554814 41554814 T C snp 1413.77 1/1 99 42 0 42 1.0 UTR5 rs913602 GPR34 XU 0.867285 0.9869 Uncertain X_41587218_T->C X 41587218 41587218 T C snp 1274.77 1/1 90 50 0 50 1.0 exonic rs1023065 GPR82 XU synonymous SNV NM_080817 exon3 c.T939C p.D313D 0.865166 0.9777 0.806228 0.8342 0.9894 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000145404.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain X_41604961_G->T X 41604961 41604961 G T snp 483.77 1/1 36 17 0 17 1.0 intronic rs41305751 CASK XU,XD NM_001126054 exon23 c.225182+107G>T 0.0664901 0.1008 Uncertain X_43552815_T->C X 43552815 43552815 T C snp 180.9 1/1 15 5 0 5 1.0 intronic rs150872284 MAOA XR NM_000240 exon3 c.37086+140T>C 0.103046 0.2356 Uncertain X_43640804_C->A X 43640804 43640804 C A snp 1315.77 1/1 93 47 0 47 1.0 intronic rs7892217 MAOB XU NM_000898 exon7 c.14079+13C>A 0.0781457 0.1113 0.014295 0.0389 0.1078 Uncertain X_43741616_G->C X 43741616 43741616 G C snp 1409.77 1/1 99 48 0 48 1.0 UTR5 rs1181251 MAOB XU 1 1 Uncertain X_44202890_-->C X 44202890 44202890 - C indel 2627.73 1/1 99 63 0 63 1.0 UTR5 rs397970935 EFHC2 XU 0.999735 1 0.999430 0.9999 1 Uncertain X_44833841_C->A X 44833841 44833841 C A snp 308.78 1/1 24 13 0 13 1.0 intronic rs6611055 KDM6A XD NM_001291415 exon4 c.101113-69C>A 0.754172 0.7552 0.663333 Uncertain X_44929077_C->A X 44929077 44929077 C A snp 2848.77 1/1 99 96 0 96 1.0 exonic rs2230018 KDM6A XD nonsynonymous SNV NM_021140 exon17 c.C2177A p.T726K 0.155497 0.4084 0.092777 0.1376 0.3912 0.18 T 0.000 P -1.010 T 0.093 T 0.051 T CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_multiple_submitters\x2c_no_conflicts;CLNACC=RCV000121287.4;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic X_44935893_G->T X 44935893 44935893 G T snp 44.77 0/1 73 23 15 8 0.35 intronic rs751803531 KDM6A XD NM_001291415 exon19 c.203144-48G>T 0.0001 0.0002 Uncertain X_44935925_TT->- X 44935925 44935926 TT - indel 510.73 0/1 38 26 4 22 0.85 intronic rs200364326 KDM6A XD NM_001291415 exon19 c.203144-16_203144-15delTT 0.276556 0.4424 0.3341 0.4656 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000153399.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain X_45011340_T->C X 45011340 45011340 T C snp 182.9 1/1 15 6 0 6 1.0 intronic rs4824527 CXorf36 XU NM_176819 exon1 c.341+103T>C 0.990728 1 Uncertain X_45017166_A->C X 45017166 45017166 A C snp 178.84 1/1 18 6 0 6 1.0 intronic rs5952693 CXorf36 XU NM_176819 exon3 c.6237+33A>C 0.727417 0.7801 0.632949 0.7025 0.8075 Uncertain X_45050973_C->T X 45050973 45050973 C T snp 224.84 1/1 18 6 0 6 1.0 intronic rs4239958 CXorf36 XU NM_176819 exon4 c.40099-22C>T 0.677086 0.7906 0.554514 0.6015 0.8017 Uncertain X_45051111_C->T X 45051111 45051111 C T snp 1793.77 1/1 99 67 0 67 1.0 exonic rs1132201 CXorf36 XU nonsynonymous SNV NM_024689 exon2 c.G383A p.R128K 0.43947 0.7552 0.280129 0.4112 0.7531 0.76 T 0.017 P -0.954 T 0.041 T 0.011 T Pathogenic X_46321945_A->- X 46321945 46321945 A - indel 385.73 1/1 48 18 0 18 1.0 intronic rs11342771 KRBOX4 XU NM_017776 exon4 c.12287-237delA 0.769536 0.8874 0.6289 0.6721 Uncertain X_46893249_G->A X 46893249 46893249 G A snp 412.77 1/1 33 12 0 12 1.0 intronic rs5906311 JADE3 XU NM_014735 exon7 c.48895+59G>A 0.984106 0.9987 Uncertain X_47057647_A->G X 47057647 47057647 A G snp 924.77 1/1 69 30 0 30 1.0 intronic UBA1 XR 0.994437 0.9738 0.9994 0.9815 0 D 0.0 P -0.990 T Uncertain X_47060844_C->G X 47060844 47060844 C G snp 4418.77 1/1 99 165 0 165 1.0 intronic rs4239963 UBA1 XR NM_153280 exon8 c.2675-32C>G 0.378543 0.3429 0.274733 0.3709 0.3145 Uncertain X_47061018_C->G X 47061018 47061018 C G snp 1403.77 1/1 99 45 0 45 1.0 intronic UBA1 XR NM_153280 exon8 c.2808+9C>G 0.971126 0.9516 0.989206 0.9795 0.9543 Uncertain X_47062479_T->C X 47062479 47062479 T C snp 2619.77 1/1 99 94 0 94 1.0 intronic UBA1 XR NM_153280 exon12 c.4245+33T>C 0.000794702 0.0039 0.0007 0.0080 Uncertain X_47065186_G->A X 47065186 47065186 G A snp 216.84 1/1 18 7 0 7 1.0 ncRNA_exonic rs4339766 INE1 XU 0.374834 0.3429 Uncertain X_47086681_-->C X 47086681 47086681 - C indel 637.73 1/1 69 24 0 24 1.0 intronic rs397944638 CDK16 XU NM_006201 exon13 c.3666+59insC 0.18543 0.1688 Uncertain X_47229909_G->A X 47229909 47229909 G A snp 878.77 1/1 63 32 0 32 1.0 upstream rs3810666 ZNF157 XU 0.399205 0.3338 Uncertain X_47229935_T->C X 47229935 47229935 T C snp 1152.77 1/1 81 46 0 46 1.0 upstream rs3810665 ZNF157 XU 0.399205 0.3338 Uncertain X_47230204_T->C X 47230204 47230204 T C snp 46.74 1/1 6 2 0 2 1.0 intronic rs6608713 ZNF157 XU NM_003446 exon1 c.72+65T>C 0.258543 0.3338 0.223193 Uncertain X_47269516_A->G X 47269516 47269516 A G snp 591.77 1/1 45 20 0 20 1.0 intronic rs6608717 ZNF157 XU NM_003446 exon2 c.39607-158A>G 0.354437 0.3416 Uncertain X_47372920_C->T X 47372920 47372920 C T snp 77.28 1/1 9 5 0 5 1.0 intergenic rs3748519 LINC01560 XU 0.271788 0.1937 Uncertain X_47372966_G->T X 47372966 47372966 G T snp 39.74 1/1 6 2 0 2 1.0 intergenic rs3748518 LINC01560 XU 0.273377 0.2081 Uncertain X_47424615_C->T X 47424615 47424615 C T snp 4716.77 1/1 99 173 0 173 1.0 intronic rs2071776 ARAF XU NM_001256196 exon6 c.2275-26C>T 0.370861 0.4058 0.286850 0.2921 0.4076 Uncertain X_47424616_G->A X 47424616 47424616 G A snp 4842.77 1/1 99 172 0 172 1.0 intronic rs151113368 ARAF XU NM_001256196 exon6 c.2275-25G>A 0.0638411 0.1623 0.019786 0.0266 0.1526 Uncertain X_47430165_C->T X 47430165 47430165 C T snp 1767.77 1/1 99 62 0 62 1.0 intronic rs2858769 ARAF XU NM_001654 exon15 c.7910-111C>T 0.394172 0.4071 Uncertain X_47430457_A->T X 47430457 47430457 A T snp 990.77 1/1 72 37 0 37 1.0 intronic rs2854412 ARAF XU NM_001654 exon15 c.8045+46A>T 0.382781 0.4084 0.358700 0.4149 0.4152 Uncertain X_47430612_GTGTGTGT->- X 47430612 47430619 GTGTGTGT - indel 1986.73 1/1 81 27 0 27 1.0 intronic ARAF XU NM_001654 exon16 c.8355-109_8355-102delGTGTGTGT Uncertain X_47430621_T->G X 47430621 47430621 T G snp 726.77 0/1 99 29 6 23 0.79 intronic ARAF XU NM_001654 exon16 c.8355-100T>G Uncertain X_47430623_T->G X 47430623 47430623 T G snp 1137.77 1/1 84 32 0 32 1.0 intronic rs776827612 ARAF XU NM_001654 exon16 c.8355-98T>G 0.323444 0.3521 Uncertain X_47430625_T->G X 47430625 47430625 T G snp 103.77 0/1 99 50 43 7 0.14 intronic ARAF XU NM_001654 exon16 c.8355-96T>G Uncertain X_47430671_G->- X 47430671 47430671 G - indel 3982.73 1/1 99 100 0 100 1.0 intronic rs66838530 ARAF XU NM_001654 exon16 c.8355-50delG 0.249536 0.3835 0.166373 Uncertain X_47443111_G->A X 47443111 47443111 G A snp 685.77 1/1 51 18 0 18 1.0 intronic rs55696512 SYN1 XR,XD NM_133499 exon8 c.4568+6211G>A 0.301457 0.4411 Uncertain X_47444879_G->C X 47444879 47444879 G C snp 1377.77 1/1 99 49 0 49 1.0 intronic rs5953060 SYN1 XR,XD NM_133499 exon8 c.4568+7979G>C 0.472583 0.4555 0.5401 0.5034 0 D 0.0 P -1.009 T 0.0 T 0.0 T Uncertain X_47444985_T->C X 47444985 47444985 T C snp 2017.77 1/1 99 68 0 68 1.0 exonic rs4898 TIMP1 XU synonymous SNV NM_003254 exon5 c.T372C p.F124F 0.469404 0.4581 0.463126 0.5287 0.4847 0.033 P -0.912 T ID=CM991177;DIS=Abdominal aortic aneurysm, female, association;TAG=DP;PUB=10372551 DP Likely benign X_47445286_A->G X 47445286 47445286 A G snp 3817.77 1/1 99 132 0 132 1.0 intronic rs6609533 SYN1 XR,XD NM_133499 exon8 c.4568+8386A>G 0.473377 0.4581 0.5028 0.4076 0.0 P -0.935 T 0.0 T 0.0 T Uncertain X_47485245_G->A X 47485245 47485245 G A snp 50.74 1/1 6 2 0 2 1.0 intronic rs8177079 CFP XR NM_002621 exon2 c.1783-211G>A 0.819868 0.9777 Uncertain X_47487912_-->G X 47487912 47487912 - G indel 2847.73 1/1 99 69 0 69 1.0 intronic rs11436787 CFP XR NM_002621 exon7 c.4003+236insG 1 1 1 1 Uncertain X_47662972_T->G X 47662972 47662972 T G snp 2189.77 1/1 99 75 0 75 1.0 intergenic CXXC1P1 XU 0.655099 0.8168 0.587806 0.6063 0.8312 Uncertain X_47663200_G->A X 47663200 47663200 G A snp 2330.77 1/1 99 82 0 82 1.0 intergenic CXXC1P1 XU 0.650861 0.8168 0.581464 0.6049 0.8319 Uncertain X_47705684_C->T X 47705684 47705684 C T snp 533.77 1/1 39 19 0 19 1.0 exonic rs145478020 ZNF81 XU synonymous SNV NM_007137 exon2 c.C18T p.D6D 0.0521854 0.1387 0.001304 0.0317 0.1685 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000118969.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain X_47747296_C->T X 47747296 47747296 C T snp 185.9 1/1 15 8 0 8 1.0 intronic ZNF81 XU NM_007137 exon3 c.41731-101C>T 0.194702 0.3233 Uncertain X_47755164_C->A X 47755164 47755164 C A snp 401.77 1/1 30 15 0 15 1.0 intronic ZNF81 XU NM_007137 exon4 c.49577-79C>A 0.952318 1 Uncertain X_47757758_T->G X 47757758 47757758 T G snp 1303.77 1/1 93 56 0 56 1.0 intronic rs5906510 ZNF81 XU NM_007137 exon4 c.49673+2419T>G 0.936159 1 Uncertain X_47918205_G->A X 47918205 47918205 G A snp 535.77 1/1 39 21 1 20 0.95 exonic ZNF630 XU synonymous SNV NM_001037735 exon5 c.C1626T p.P542P 0.639735 0.8665 0.547870 0.5925 0.8745 Uncertain X_47920356_A->G X 47920356 47920356 A G snp 2518.77 1/1 99 95 0 95 1.0 ncRNA_intronic ZNF630-AS1 XU 0.998675 1 0.996298 0.9965 0.9997 Uncertain X_47927449_G->A X 47927449 47927449 G A snp 272.8 1/1 21 11 0 11 1.0 intronic ZNF630 XU NM_001190255 exon4 c.8593+1000G>A 0.595497 0.8652 Uncertain X_47927588_A->G X 47927588 47927588 A G snp 40.74 1/1 6 2 0 2 1.0 intronic ZNF630 XU NM_001190255 exon4 c.8593+1139A>G 0.408212 0.5707 Uncertain X_47970842_A->T X 47970842 47970842 A T snp 632.77 1/1 51 18 0 18 1.0 ncRNA_intronic SSX6 XU 0.508344 0.5118 Uncertain X_48049666_C->T X 48049666 48049666 C T snp 1157.77 1/1 84 37 0 37 1.0 exonic SSX5 XU synonymous SNV NM_175723 exon6 c.G369A p.S123S 0.909934 1 0.893770 0.9692 1 Uncertain X_48053428_C->A X 48053428 48053428 C A snp 101.28 1/1 9 4 0 4 1.0 intronic SSX5 XU NM_021015 exon5 c.6498-136C>A 0.858808 0.8848 Uncertain X_48053521_T->C X 48053521 48053521 T C snp 2066.77 1/1 99 81 0 81 1.0 intronic SSX5 XU NM_021015 exon5 c.6498-43T>C 0.863576 0.8848 0.877309 0.9541 0.9245 Uncertain X_48054740_C->G X 48054740 48054740 C G snp 3400.77 1/1 99 122 0 122 1.0 exonic SSX5 XU nonsynonymous SNV NM_021015 exon2 c.G55C p.E19Q 0.859603 0.8874 0.873982 0.9525 0.9240 0.14 T 0.0 P -0.992 T 0.983 D 0.721 D Pathogenic X_48073924_T->C X 48073924 48073924 T C snp 1154.77 1/1 84 38 0 38 1.0 intergenic SSX5 XU 0.385695 0.3442 0.394033 0.3844 0.3174 Uncertain X_48164138_A->G X 48164138 48164138 A G snp 248.8 1/1 21 9 0 9 1.0 ncRNA_intronic SSX9 XU 0.945166 1 Uncertain X_48432791_T->C X 48432791 48432791 T C snp 396.77 1/1 30 12 0 12 1.0 UTR5 RBM3 XU 0.904106 0.9018 Uncertain X_48433499_C->G X 48433499 48433499 C G snp 2723.77 1/1 99 89 0 89 1.0 intronic RBM3 XU 0.443444 0.4555 Uncertain X_48433529_C->T X 48433529 48433529 C T snp 3509.77 1/1 99 122 0 122 1.0 intronic RBM3 XU 0.443444 0.4555 0.449981 0.5636 0.4927 Uncertain X_48435308_G->A X 48435308 48435308 G A snp 630.77 1/1 48 16 0 16 1.0 intronic RBM3 XU NM_006743 exon6 c.1845-105G>A 0.443444 0.4555 Uncertain X_48435928_C->T X 48435928 48435928 C T snp 917.77 1/1 66 33 0 33 1.0 UTR3 RBM3 XU 0.904371 0.9031 0.8952 0.9608 1 T 0.128 P -0.953 T Uncertain X_48460314_A->G X 48460314 48460314 A G snp 2882.77 1/1 99 95 0 95 1.0 exonic WDR13 XU nonsynonymous SNV NM_001166426 exon5 c.A698G p.H233R 1 1 0.999811 1.0000 1 0.28 T 0.000 P -0.958 T 0.0 T 0.0 T Pathogenic X_48460625_G->C X 48460625 48460625 G C snp 1460.77 1/1 99 51 0 51 1.0 intronic WDR13 XU NM_017883 exon7 c.4210+31G>C 0.765298 0.9097 0.740320 0.8652 0.9300 Uncertain X_48544650_A->G X 48544650 48544650 A G snp 185.9 1/1 15 6 0 6 1.0 intronic WAS XR NM_000377 exon6 c.2281+127A>G 0.98702 1 Uncertain X_48649373_T->G X 48649373 48649373 T G snp 39.74 1/1 6 2 0 2 1.0 intronic GATA1 XR,XU Uncertain X_48649426_-->G X 48649426 48649426 - G indel 201.8 1/1 18 6 0 6 1.0 intronic rs139472040 GATA1 XR,XU 1 1 Uncertain X_48649449_T->G X 48649449 48649449 T G snp 356.77 1/1 30 11 0 11 1.0 intronic GATA1 XR,XU 1 1 Uncertain X_48649456_T->G X 48649456 48649456 T G snp 555.77 1/1 42 16 0 16 1.0 intronic GATA1 XR,XU 1 1 Uncertain X_48675926_C->G X 48675926 48675926 C G snp 424.77 1/1 33 12 0 12 1.0 intronic HDAC6 XD NM_006044 exon20 c.14767+60C>G 0.301192 0.551 Uncertain X_48690416_G->T X 48690416 48690416 G T snp 314.78 1/1 24 12 0 12 1.0 exonic rs6520383 PCSK1N XU synonymous SNV NM_013271 exon2 c.C450A p.L150L 0.739603 0.7605 0.7861 0.7863 Uncertain X_48751471_A->G X 48751471 48751471 A G snp 2137.77 1/1 99 80 0 80 1.0 exonic TIMM17B XU synonymous SNV NM_005834 exon5 c.T228C p.I76I 0.731656 0.7539 0.673925 0.6497 0.7729 Uncertain X_48759204_C->T X 48759204 48759204 C T snp 1225.77 1/1 90 43 0 43 1.0 splicing PQBP1 XR NM_001167992 exon3 c.3414-2C>T 0.62543 0.7552 0.573606 0.6124 0.7553 Pathogenic X_48760793_C->T X 48760793 48760793 C T snp 2244.77 1/1 99 74 0 74 1.0 downstream PQBP1 XR 0.435497 0.6086 0.397974 0.4292 0.6235 Uncertain X_48838445_A->C X 48838445 48838445 A C snp 309.78 1/1 24 9 0 9 1.0 intronic GRIPAP1 XU NM_020137 exon9 c.7680+161A>C 0.0511258 0.2343 Uncertain X_48858802_G->A X 48858802 48858802 G A snp 550.77 1/1 42 17 0 17 1.0 upstream GRIPAP1 XU 0.421457 0.6073 Uncertain X_48898183_C->G X 48898183 48898183 C G snp 515.77 1/1 39 17 0 17 1.0 intronic TFE3 XU NM_001282142 exon9 c.10427+88C>G 0.993907 0.9987 Uncertain X_48900900_T->G X 48900900 48900900 T G snp 312.78 1/1 24 11 0 11 1.0 UTR5 TFE3 XU 1 1 Uncertain X_49021256_A->G X 49021256 49021256 A G snp 4363.77 1/1 99 156 0 156 1.0 exonic rs5906744 MAGIX XU nonsynonymous SNV NM_024859 exon4 c.A335G p.H112R 0.999735 1 0.998799 0.9982 0.9994 0.61 T 0.0 P -1.028 T 0.0 T 0.0 T Pathogenic X_49021537_G->C X 49021537 49021537 G C snp 3628.77 1/1 99 130 0 130 1.0 exonic rs5905720 MAGIX XU nonsynonymous SNV NM_001099681 exon4 c.G289C p.V97L 0.999735 1 0.998900 0.9982 0.9995 0.24 T 0.0 P -0.996 T 0.001 T 0.001 T Pathogenic X_49022276_C->G X 49022276 49022276 C G snp 644.77 1/1 48 20 0 20 1.0 intronic rs5953269 MAGIX XU NM_024859 exon6 c.3185-136C>G 1 1 Uncertain X_49022286_C->G X 49022286 49022286 C G snp 724.77 1/1 54 21 0 21 1.0 intronic rs72619037 MAGIX XU NM_024859 exon6 c.3185-126C>G 1 1 Uncertain X_49022292_T->- X 49022292 49022292 T - indel 800.73 1/1 63 21 0 21 1.0 intronic rs113504281 MAGIX XU NM_024859 exon6 c.3185-120delT Uncertain X_49022293_C->G X 49022293 49022293 C G snp 692.77 1/1 51 21 0 21 1.0 intronic rs75416104 MAGIX XU NM_024859 exon6 c.3185-119C>G Uncertain X_49022295_A->G X 49022295 49022295 A G snp 733.77 1/1 54 23 0 23 1.0 intronic rs138365388 MAGIX XU NM_024859 exon6 c.3185-117A>G Uncertain X_49022309_C->A X 49022309 49022309 C A snp 1185.77 1/1 87 43 0 43 1.0 intronic rs73634213 MAGIX XU NM_024859 exon6 c.3185-103C>A 1 1 Uncertain X_49022311_A->G X 49022311 49022311 A G snp 1257.77 1/1 90 44 0 44 1.0 intronic rs7880193 MAGIX XU NM_024859 exon6 c.3185-101A>G 0.999735 0.9987 Uncertain X_49022700_T->C X 49022700 49022700 T C snp 659.77 1/1 48 25 0 25 1.0 exonic rs4824462 MAGIX XU nonsynonymous SNV NM_001099681 exon5 c.T739C p.F247L 1 1 1 1 1 T 0.0 P -0.978 T 0.0 T 0.0 T Pathogenic X_49069366_C->T X 49069366 49069366 C T snp 1046.77 1/1 75 36 0 36 1.0 intronic CACNA1F XR,XL NM_001256789 exon17 c.7837-67C>T 0.441325 0.6846 0.334722 Uncertain X_49070813_G->A X 49070813 49070813 G A snp 420.77 1/1 33 14 0 14 1.0 intronic CACNA1F XR,XL NM_001256789 exon19 c.9133+84G>A 0.440795 0.6832 Uncertain X_49071964_A->G X 49071964 49071964 A G snp 1344.77 1/1 96 44 0 44 1.0 exonic CACNA1F XR,XL synonymous SNV NM_005183 exon28 c.T3309C p.H1103H 0.552053 0.6832 0.455647 0.4349 0.6695 Uncertain X_49074801_G->A X 49074801 49074801 G A snp 56.74 1/1 6 2 0 2 1.0 intronic CACNA1F XR,XL NM_001256789 exon25 c.13317-112G>A 0.429669 0.6859 Uncertain X_49077583_G->A X 49077583 49077583 G A snp 481.77 1/1 36 19 0 19 1.0 intronic CACNA1F XR,XL NM_001256789 exon31 c.15943+44G>A 0.439205 0.6846 0.332387 0.3670 0.6607 Uncertain X_49077741_T->C X 49077741 49077741 T C snp 179.9 1/1 15 6 0 6 1.0 intronic CACNA1F XR,XL NM_001256789 exon31 c.15943+202T>C 0.994172 1 Uncertain X_49081291_G->A X 49081291 49081291 G A snp 2157.77 1/1 99 77 0 77 1.0 exonic CACNA1F XR,XL synonymous SNV NM_005183 exon14 c.C1842T p.G614G 0.44053 0.6846 0.333744 0.4461 0.7114 Uncertain X_49084492_C->T X 49084492 49084492 C T snp 1593.77 1/1 99 58 0 58 1.0 splicing CACNA1F XR,XL NM_001256789 exon41 c.22901-5C>T 0.356821 0.6846 0.245290 0.3625 0.6789 Pathogenic X_49087487_G->A X 49087487 49087487 G A snp 1992.77 1/1 99 68 0 68 1.0 intronic CACNA1F XR,XL NM_001256789 exon45 c.25855+36G>A 0.44106 0.6846 0.337276 0.4029 0.6747 Uncertain X_49092312_CACACACG->- X 49092312 49092319 CACACACG - indel 776.74 1/1 27 9 0 9 1.0 intronic rs782754781 CCDC22 XR NM_014008 exon1 c.50+166_50+173delCACACACG Uncertain X_49093528_T->C X 49093528 49093528 T C snp 3030.77 1/1 99 111 0 111 1.0 intronic CCDC22 XR NM_014008 exon2 c.1456-24T>C 0.713907 0.8586 0.561678 0.5513 0.8524 Uncertain X_49098631_A->G X 49098631 49098631 A G snp 1913.77 1/1 99 67 1 66 0.99 intronic CCDC22 XR NM_014008 exon3 c.6518+17A>G 0.571656 0.6819 0.479883 0.4057 0.6520 Uncertain X_49103097_T->A X 49103097 49103097 T A snp 146.03 1/1 12 6 0 6 1.0 intronic CCDC22 XR NM_014008 exon7 c.11095-94T>A 0.468079 0.6414 Uncertain X_49103224_G->A X 49103224 49103224 G A snp 655.03 1/1 12 25 1 24 0.96 exonic CCDC22 XR synonymous SNV NM_014008 exon7 c.G747A p.Q249Q 0.466225 0.6401 0.374892 0.5471 0.6951 Uncertain X_49767832_A->G X 49767832 49767832 A G snp 951.77 1/1 69 34 0 34 1.0 ncRNA_exonic MIR532 XU 1 1 1 1 Uncertain X_49767835_A->G X 49767835 49767835 A G snp 837.77 1/1 60 32 0 32 1.0 ncRNA_exonic MIR532 XU 1 1 1.0000 1 Uncertain X_49767904_A->G X 49767904 49767904 A G snp 549.77 1/1 42 21 0 21 1.0 upstream;downstream MIR188;MIR532 UN 1 1 Uncertain X_49773805_A->C X 49773805 49773805 A C snp 182.9 1/1 15 5 0 5 1.0 upstream;downstream MIR501;MIR362 UN 1 1 Uncertain X_50121146_-->G X 50121146 50121146 - G indel 1510.73 1/1 99 38 0 38 1.0 exonic rs35830302 DGKK XU unknown 1 1 Uncertain X_50122585_TCATGCC->- X 50122585 50122591 TCATGCC - indel 1499.73 1/1 45 15 0 15 1.0 intronic DGKK XU NM_001013742 exon9 c.10686-39_10686-33delTCATGCC 8.392e-05 0.0011 Uncertain X_50165595_-->AC X 50165595 50165595 - AC indel 178.8 0/1 18 16 1 15 0.94 intronic DGKK XU NM_001013742 exon26 c.53586+71insAC 0.211126 0.2749 Uncertain X_50341598_G->A X 50341598 50341598 G A snp 1430.77 1/1 99 56 0 56 1.0 intronic SHROOM4 XU NM_020717 exon2 c.1841+63G>A 0.65457 0.8927 Uncertain X_50341675_G->C X 50341675 50341675 G C snp 633.77 1/1 48 18 0 18 1.0 intronic SHROOM4 XU NM_020717 exon2 c.1841+140G>C 0.656689 0.9018 Uncertain X_51239296_TCCTCGAGGCAGCC->- X 51239296 51239309 TCCTCGAGGCAGCC - indel 15428.7 1/1 99 119 0 119 1.0 exonic NUDT11 XU frameshift deletion 0.637351 0.589 0.927692 0.4630 0.5697 ID=COSM127214;OCCURENCE=1(central_nervous_system),2(upper_aerodigestive_tract),1(skin),1(breast),1(prostate),1(urinary_tract) Pathogenic X_51486659_C->T X 51486659 51486659 C T snp 471.77 1/1 36 13 0 13 1.0 UTR5 GSPT2 XU 0.777748 0.9293 Uncertain X_52825471_A->G X 52825471 52825471 A G snp 1442.77 1/1 99 43 0 43 1.0 UTR3 rs2806837 SPANXN5 XU 0.980662 1 Uncertain X_52825546_C->G X 52825546 52825546 C G snp 2802.77 1/1 99 112 0 112 1.0 exonic rs2806838 SPANXN5 XU synonymous SNV NM_001009616 exon2 c.G201C p.L67L 0.979073 1 0.973303 0.9758 1 Uncertain X_52891492_T->C X 52891492 52891492 T C snp 77.77 0/1 72 6 3 3 0.5 downstream XAGE3 XU Uncertain X_52891512_A->T X 52891512 52891512 A T snp 113.77 0/1 99 9 5 4 0.44 downstream XAGE3 XU Uncertain X_52891513_C->T X 52891513 52891513 C T snp 116.77 0/1 99 9 5 4 0.44 downstream XAGE3 XU Uncertain X_52891523_G->T X 52891523 52891523 G T snp 110.77 0/1 99 11 7 4 0.36 downstream XAGE3 XU Uncertain X_52891542_A->G X 52891542 52891542 A G snp 237.77 0/1 99 26 17 9 0.35 downstream XAGE3 XU Uncertain X_52891565_A->G X 52891565 52891565 A G snp 493.77 0/1 99 47 26 21 0.45 UTR3 XAGE3 XU Uncertain X_52891584_C->A X 52891584 52891584 C A snp 650.77 0/1 99 67 36 31 0.46 UTR3 XAGE3 XU Uncertain X_52891620_T->- X 52891620 52891620 T - indel 1383.73 0/1 99 104 60 44 0.42 UTR3 XAGE3 XU 0.3438 0.3795 Uncertain X_52891645_A->G X 52891645 52891645 A G snp 1025.77 0/1 99 118 70 48 0.41 UTR3 XAGE3 XU 0.3439 0.3794 Uncertain X_52891653_C->T X 52891653 52891653 C T snp 1008.77 0/1 99 119 72 47 0.39 exonic XAGE3 XU synonymous SNV NM_130776 exon5 c.G330A p.Q110Q 0.3463 0.3810 Uncertain X_52891732_G->A X 52891732 52891732 G A snp 694.77 0/1 99 97 66 31 0.32 intronic XAGE3 XU NM_133179 exon1 c.23+63G>A Uncertain X_52891736_G->T X 52891736 52891736 G T snp 700.77 0/1 99 93 63 30 0.32 intronic XAGE3 XU NM_133179 exon1 c.23+67G>T Uncertain X_52891738_C->T X 52891738 52891738 C T snp 709.77 0/1 99 91 60 31 0.34 intronic XAGE3 XU NM_133179 exon1 c.23+69C>T Uncertain X_52891739_A->G X 52891739 52891739 A G snp 703.77 0/1 99 90 60 30 0.33 intronic XAGE3 XU NM_133179 exon1 c.23+70A>G Uncertain X_52891818_G->A X 52891818 52891818 G A snp 236.77 0/1 99 34 22 12 0.35 intronic XAGE3 XU NM_133179 exon1 c.23+149G>A Uncertain X_52891833_T->- X 52891833 52891833 T - indel 147.73 0/1 99 21 13 8 0.38 intronic XAGE3 XU NM_133179 exon1 c.23+164delT Uncertain X_52895580_GT->- X 52895580 52895581 GT - indel 478.73 1/1 39 21 0 21 1.0 intronic rs5902508 XAGE3 XU NM_133179 exon3 c.3921+13_3921+14delGT 0.858013 0.9359 0.6795 0.6570 Uncertain X_53222043_-->C X 53222043 53222043 - C indel 210.75 1/1 24 15 0 15 1.0 UTR3 KDM5C XR 0.775894 0.7971 0.9040 0.8376 Uncertain X_53225751_A->G X 53225751 53225751 A G snp 635.77 1/1 48 19 0 19 1.0 intronic KDM5C XR NM_001146702 exon8 c.3942-116A>G 0.761325 0.7984 Uncertain X_53228148_C->A X 53228148 53228148 C A snp 4160.77 1/1 99 152 2 150 0.99 intronic KDM5C XR NM_001146702 exon12 c.6233-10C>A 0.730331 0.7029 0.782922 0.8920 0.7359 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000080872.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain X_53265835_T->C X 53265835 53265835 T C snp 176.9 1/1 15 7 0 7 1.0 intronic IQSEC2 XD NM_015075 exon2 c.1325+158T>C 0.761589 0.7958 Uncertain X_53271147_T->G X 53271147 53271147 T G snp 605.77 1/1 45 23 0 23 1.0 intronic IQSEC2 XD NM_015075 exon5 c.6739+56T>G 0.672583 0.6034 Uncertain X_53272572_T->C X 53272572 53272572 T C snp 1439.77 1/1 99 57 0 57 1.0 exonic IQSEC2 XD nonsynonymous SNV NM_001111125 exon9 c.A2831G p.N944S 0.06 T 1.000 D -1.109 T 0.005 T 0.01 T Pathogenic X_53280421_G->A X 53280421 53280421 G A snp 341.78 1/1 27 15 0 15 1.0 intronic IQSEC2 XD NM_015075 exon10 c.16004+65G>A 0.683179 0.5903 Uncertain X_53421655_A->C X 53421655 53421655 A C snp 31.77 0/1 60 8 6 2 0.25 intronic SMC1A XD NM_001281463 exon7 c.14674-42A>C 0.0010 0.0023 Uncertain X_53436232_G->T X 53436232 53436232 G T snp 934.77 1/1 69 28 0 28 1.0 intronic SMC1A XD NM_001281463 exon17 c.29177+32G>T 0.98543 1 0.960606 0.9651 1 Uncertain X_53449336_-->G X 53449336 53449336 - G indel 409.73 1/1 33 11 0 11 1.0 intronic rs140096409 SMC1A XD NM_001281463 exon26 c.42417-104insG 1 1 Uncertain X_53563589_A->G X 53563589 53563589 A G snp 833.77 1/1 60 30 0 30 1.0 exonic HUWE1 XU synonymous SNV NM_031407 exon79 c.T12177C p.G4059G 0.994967 1 0.991953 0.9973 1 1.0 P -1.030 T Likely benign X_53577887_T->C X 53577887 53577887 T C snp 3237.77 1/1 99 107 0 107 1.0 exonic HUWE1 XU synonymous SNV NM_031407 exon65 c.A9360G p.A3120A 0.0323179 0.1558 0.000095 0.0117 0.1453 1.000 P -1.092 T Likely benign X_53601990_A->C X 53601990 53601990 A C snp 465.77 1/1 36 14 0 14 1.0 intronic HUWE1 XU NM_031407 exon39 c.41845-124A>C 0.445563 0.5445 Uncertain X_53641647_T->C X 53641647 53641647 T C snp 1044.77 1/1 75 37 0 37 1.0 exonic rs6638360 HUWE1 XU synonymous SNV NM_031407 exon23 c.A2109G p.S703S 0.389669 0.5223 0.377923 0.4895 0.5232 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000117252.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain X_53652844_G->A X 53652844 53652844 G A snp 982.77 1/1 72 36 0 36 1.0 intronic HUWE1 XU NM_031407 exon67 c.91950+625G>A 0.3858 0.3570 1 N -1.019 T Uncertain X_53652852_-->GCCGGG X 53652852 53652852 - GCCGGG indel 2575.73 1/1 99 34 0 34 1.0 intronic rs782400383 HUWE1 XU NM_031407 exon67 c.91950+633insGCCGGG 0.948425 0.9484 0.9486 Uncertain X_53654518_A->T X 53654518 53654518 A T snp 352.78 1/1 27 11 0 11 1.0 intronic HUWE1 XU NM_031407 exon68 c.94197+52A>T 0.0288742 0.0249 0.0128 0.0295 Uncertain X_53659047_C->T X 53659047 53659047 C T snp 1057.77 1/1 75 40 0 40 1.0 intronic HUWE1 XU NM_031407 exon76 c.99169-391C>T 0.388874 0.5223 0.5024 0.4574 Uncertain X_54014110_C->G X 54014110 54014110 C G snp 477.77 1/1 39 13 0 13 1.0 intronic PHF8 XU NM_001184898 exon8 c.44402-88C>G 0.0209272 0.0942 Uncertain X_54107692_T->C X 54107692 54107692 T C snp 3418.77 1/1 99 122 1 121 0.99 intronic rs2516098 FAM120C XU NM_017848 exon3 c.8289-62T>C 0.998675 1 Uncertain X_54117740_C->A X 54117740 54117740 C A snp 687.77 1/1 51 23 0 23 1.0 splicing FAM120C XU NM_017848 exon6 c.18279-4C>A 0.997086 1 0.995551 0.9985 1 Pathogenic X_54161859_C->T X 54161859 54161859 C T snp 756.77 1/1 57 24 0 24 1.0 intronic FAM120C XU NM_017848 exon11 c.62495-101C>T 0.992583 1 Uncertain X_54209387_A->G X 54209387 54209387 A G snp 1107.77 1/1 78 42 0 42 1.0 exonic FAM120C XU nonsynonymous SNV NM_001300788 exon1 c.T245C p.I82T 1 1 1 1 0.53 T 0.000 P -1.009 T 0.0 T 0.0 T Pathogenic X_54280277_A->T X 54280277 54280277 A T snp 351.78 1/1 27 9 0 9 1.0 intronic WNK3 XU NM_020922 exon12 c.55635-114A>T 0.202649 0.1034 Uncertain X_54781359_T->C X 54781359 54781359 T C snp 533.77 1/1 39 19 0 19 1.0 intronic rs34779123 ITIH6 XU NM_198510 exon5 c.5122-90T>C 0.530861 0.5065 Uncertain X_54800638_A->- X 54800638 54800638 A - indel 84.25 1/1 9 10 1 9 0.9 intronic rs35679081 ITIH6 XU NM_198510 exon8 c.24303+8delA 0.386225 0.4699 0.2426 0.1837 Uncertain X_54836361_A->G X 54836361 54836361 A G snp 1961.77 1/1 99 64 0 64 1.0 exonic rs1043031 MAGED2 XR synonymous SNV NM_014599 exon3 c.A252G p.S84S 0.410066 0.5982 0.317928 0.4153 0.6556 Uncertain X_54836505_A->G X 54836505 54836505 A G snp 3039.77 1/1 99 112 2 110 0.98 exonic rs1043034 MAGED2 XR synonymous SNV NM_014599 exon3 c.A396G p.T132T 0.514967 0.5969 0.452996 0.4549 0.6625 Uncertain X_54837340_C->T X 54837340 54837340 C T snp 1259.77 1/1 90 46 0 46 1.0 exonic rs1043044 MAGED2 XR synonymous SNV NM_014599 exon4 c.C624T p.A208A 0.460397 0.5929 0.381899 0.4192 0.6514 Uncertain X_54838077_C->T X 54838077 54838077 C T snp 1411.77 1/1 99 52 0 52 1.0 exonic rs2071932 MAGED2 XR synonymous SNV NM_014599 exon6 c.C981T p.S327S 0.429669 0.5929 0.345924 0.3990 0.6462 Uncertain X_54838437_G->A X 54838437 54838437 G A snp 214.84 1/1 18 6 0 6 1.0 intronic rs2071934 MAGED2 XR NM_014599 exon7 c.2825-152G>A 0.436026 0.5916 Uncertain X_54840013_C->T X 54840013 54840013 C T snp 1218.77 1/1 87 48 0 48 1.0 intronic rs763183 MAGED2 XR NM_014599 exon10 c.4219+30C>T 0.462252 0.5929 0.388242 0.3941 0.6389 Uncertain X_54950747_G->A X 54950747 54950747 G A snp 56.74 1/1 6 2 0 2 1.0 intronic rs12851962 TRO XU NM_016157 exon4 c.2204-136G>A 0.30649 0.5131 Uncertain X_54972151_GTGC->- X 54972151 54972154 GTGC - indel 687.73 1/1 39 16 0 16 1.0 intronic PFKFB1 XU NM_001271805 exon5 c.12141+175_12141+178delGTGC Uncertain X_55116466_C->G X 55116466 55116466 C G snp 986.77 1/1 72 42 0 42 1.0 exonic rs1845444 PAGE2 XU nonsynonymous SNV NM_207339 exon2 c.C13G p.L5V 0.93351 1 0.923640 0.9757 1 1 T 0.0 P -0.977 T 0.0 T 0.0 T Pathogenic X_55172359_C->T X 55172359 55172359 C T snp 455.77 0/1 99 32 18 14 0.44 UTR3 rs5000153 FAM104B XU Uncertain X_55172371_C->T X 55172371 55172371 C T snp 273.77 0/1 99 41 31 10 0.24 UTR3 rs5006980 FAM104B XU Uncertain X_55172373_A->G X 55172373 55172373 A G snp 1268.77 0/1 99 42 6 36 0.86 UTR3 rs1047069 FAM104B XU Uncertain X_55172399_A->T X 55172399 55172399 A T snp 583.77 0/1 99 78 55 23 0.29 UTR3 rs5006981 FAM104B XU Uncertain X_55172427_G->T X 55172427 55172427 G T snp 3979.77 0/1 99 153 18 135 0.88 UTR3 rs1047068 FAM104B XU 0.0010596 0.0013 Uncertain X_55172432_C->T X 55172432 55172432 C T snp 247.77 0/1 99 177 157 20 0.11 UTR3 FAM104B XU Uncertain X_55172448_-->TT X 55172448 55172448 - TT indel 7326.73 0/1 99 234 33 201 0.86 UTR3 rs200343873 FAM104B XU Uncertain X_55172456_G->A X 55172456 55172456 G A snp 1638.77 0/1 99 249 164 85 0.34 UTR3 rs4447651 FAM104B XU Uncertain X_55172459_G->T X 55172459 55172459 G T snp 1914.77 0/1 99 249 170 79 0.32 UTR3 FAM104B XU Uncertain X_55172471_G->A X 55172471 55172471 G A snp 6205.77 0/1 99 249 34 215 0.86 UTR3 rs1047059 FAM104B XU 0.2685 0.3648 Uncertain X_55172521_G->T X 55172521 55172521 G T snp 420.77 0/1 99 250 219 31 0.12 exonic FAM104B XU nonsynonymous SNV NM_001166700 exon3 c.C347A p.T116K 0 D 1 N -1.038 T 0.753 T 0.139 P Pathogenic X_55172537_G->A X 55172537 55172537 G A snp 7455.77 0/1 55 250 20 230 0.92 exonic rs1047054 FAM104B XU stopgain NM_001166700 exon3 c.C331T p.R111X 0.0005 0 1 T 0.974 N Pathogenic X_55172572_G->A X 55172572 55172572 G A snp 1139.77 0/1 99 250 199 51 0.2 exonic rs111573608 FAM104B XU nonsynonymous SNV NM_001166700 exon3 c.C296T p.T99I 1.173e-05 0 1 T 1 N -0.995 T 0.0 T 0.0 T Pathogenic X_55172606_G->A X 55172606 55172606 G A snp 1080.77 0/1 99 250 201 49 0.2 exonic rs113745415 FAM104B XU nonsynonymous SNV NM_001166700 exon3 c.C262T p.P88S 0 0 0.06 T 1 N -1.045 T 0.137 T 0.013 T Pathogenic X_55172630_G->A X 55172630 55172630 G A snp 2064.77 0/1 99 250 171 79 0.32 exonic rs113263757 FAM104B XU stopgain NM_001166699 exon3 c.C238T p.Q80X 0.0009 0.0034 0.03 T 1 D Pathogenic X_55172645_C->T X 55172645 55172645 C T snp 6413.77 0/1 99 250 26 224 0.9 exonic rs1047042 FAM104B XU nonsynonymous SNV NM_001166699 exon3 c.G223A p.D75N 0.0013245 0.0001 0 0.4 T 0.0 P -1.045 T 0.003 T 0.001 T Pathogenic X_55172680_G->C X 55172680 55172680 G C snp 1107.77 0/1 99 242 196 46 0.19 exonic rs111638770 FAM104B XU nonsynonymous SNV NM_001166699 exon3 c.C188G p.P63R 0 D 1 N -0.956 T 0.999 D 0.991 D Pathogenic X_55172685_A->G X 55172685 55172685 A G snp 79.77 0/1 99 237 219 18 0.08 exonic FAM104B XU synonymous SNV NM_001166699 exon3 c.T183C p.S61S Uncertain X_55172686_C->T X 55172686 55172686 C T snp 1696.77 0/1 99 236 176 60 0.25 exonic FAM104B XU nonsynonymous SNV NM_001166699 exon3 c.G182A p.S61N 0.12 T 1 N -1.045 T 0.001 T 0.002 T Pathogenic X_55172687_T->C X 55172687 55172687 T C snp 6737.77 0/1 99 235 35 200 0.85 exonic rs1047037 FAM104B XU nonsynonymous SNV NM_001166699 exon3 c.A181G p.S61G 0 0 0.09 T 1 N -1.046 T 0.18 T 0.062 T Pathogenic X_55172689_G->T X 55172689 55172689 G T snp 935.77 0/1 99 236 195 41 0.17 exonic FAM104B XU nonsynonymous SNV NM_001166699 exon3 c.C179A p.A60E 0.33 T 1 N -1.050 T 0.712 T 0.402 P Pathogenic X_55172708_T->G X 55172708 55172708 T G snp 6291.77 0/1 99 226 38 188 0.83 exonic rs1047034 FAM104B XU nonsynonymous SNV NM_001166699 exon3 c.A160C p.I54L 1.142e-05 0 0.01 T 1 N -0.863 T 0.127 T 0.271 T Pathogenic X_55173733_A->- X 55173733 55173733 A - indel 5854.73 1/1 99 140 0 140 1.0 intronic rs11327722 FAM104B XU NM_138362 exon2 c.2533+989delA 0.970596 1 Uncertain X_55185568_A->G X 55185568 55185568 A G snp 115.77 0/1 99 70 62 8 0.11 exonic rs113840740 FAM104B XU synonymous SNV NM_001166699 exon2 c.T114C p.D38D 3.485e-05 0 Uncertain X_55185656_C->A X 55185656 55185656 C A snp 1815.77 0/1 99 199 136 63 0.32 exonic FAM104B XU nonsynonymous SNV NM_001166699 exon2 c.G26T p.R9I 0.02 T 1.000 D -0.722 T 0.999 D 0.994 D Pathogenic X_55185663_T->G X 55185663 55185663 T G snp 55.77 0/1 84 28 24 4 0.14 splicing rs200867626 FAM104B XU NM_138362 exon3 c.15450+2T>G 1 D Pathogenic X_55246965_C->T X 55246965 55246965 C T snp 704.77 1/1 51 25 0 25 1.0 UTR5 rs5914272 PAGE5 XU 0.823311 1 0.814341 Uncertain X_55247030_C->G X 55247030 55247030 C G snp 659.77 1/1 48 28 0 28 1.0 UTR5 rs5914273 PAGE5 XU 0.830464 1 0.819991 0.9308 0.9998 Uncertain X_55248090_C->A X 55248090 55248090 C A snp 83.28 1/1 9 3 0 3 1.0 intronic rs4826274 PAGE5 XU NM_001013435 exon3 c.384-109C>A 0.63947 0.9398 Uncertain X_55248320_G->A X 55248320 55248320 G A snp 4185.77 1/1 99 159 0 159 1.0 intronic rs5914274 PAGE5 XU NM_001013435 exon3 c.493+12G>A 0.33351 0.411 0.263617 0.3755 0.4378 Uncertain X_55286887_G->T X 55286887 55286887 G T snp 239.8 1/1 21 8 0 8 1.0 intronic rs3761559 PAGE3 XU NM_001017931 exon2 c.2028-79G>T 0.374305 0.4097 Uncertain X_55287031_T->G X 55287031 55287031 T G snp 2156.77 1/1 99 93 0 93 1.0 exonic rs3761560 PAGE3 XU synonymous SNV NM_001017931 exon4 c.A255C p.G85G 0.344106 0.4097 0.277815 0.3570 0.4078 Uncertain X_55289593_C->T X 55289593 55289593 C T snp 945.77 1/1 69 31 0 31 1.0 intronic rs2148981 PAGE3 XU NM_001017931 exon3 c.4745-90C>T 0.823311 1 Uncertain X_55289641_C->T X 55289641 55289641 C T snp 1577.77 1/1 99 54 0 54 1.0 intronic rs2296806 PAGE3 XU NM_001017931 exon3 c.4745-42C>T 0.0254305 0.055 0.008617 0.0243 0.0545 Uncertain X_55289774_T->C X 55289774 55289774 T C snp 1891.77 1/1 99 71 0 71 1.0 exonic rs4826381 PAGE3 XU nonsynonymous SNV NM_001017931 exon3 c.A103G p.N35D 0.823576 1 0.809429 0.9273 0.9998 0.91 T 0.0 P -0.999 T 0.0 T 0.001 T Pathogenic X_55479299_G->A X 55479299 55479299 G A snp 2294.77 1/1 99 85 0 85 1.0 exonic rs11545211 MAGEH1 XU synonymous SNV NM_014061 exon1 c.G492A p.G164G 0.265695 0.3743 0.207611 0.2927 0.3588 Uncertain X_55651001_T->C X 55651001 55651001 T C snp 1726.77 1/1 99 61 0 61 1.0 exonic rs2375465 FOXR2 XU nonsynonymous SNV NM_198451 exon1 c.T857C p.V286A 0.811656 1 0.801382 0.9237 0.9998 1 T 0.0 P -0.969 T 0.0 T 0.001 T Pathogenic X_55748820_A->G X 55748820 55748820 A G snp 185.9 1/1 15 6 0 6 1.0 intronic rs1473761 RRAGB XU NM_006064 exon3 c.3958+102A>G 0.837616 1 Uncertain X_55757744_T->G X 55757744 55757744 T G snp 261.8 1/1 21 8 0 8 1.0 intronic rs5960480 RRAGB XU NM_006064 exon5 c.13036-52T>G 0.836821 1 Uncertain X_57162895_G->A X 57162895 57162895 G A snp 35.74 1/1 6 115 51 64 0.56 exonic rs2003812 SPIN2A XU nonsynonymous SNV NM_019003 exon2 c.C136T p.R46C 0.955762 0.9948 0.9157 0.9916 0.02 T 1.000 P -1.032 T 0.001 T 0.0 T Pathogenic X_57162899_C->T X 57162899 57162899 C T snp 35.74 1/1 6 118 53 65 0.55 exonic rs2020223 SPIN2A XU synonymous SNV NM_019003 exon2 c.G132A p.Q44Q 0.956026 0.9948 0.9151 1 Uncertain X_57162913_G->T X 57162913 57162913 G T snp 35.74 1/1 6 111 49 62 0.56 exonic rs4266782 SPIN2A XU synonymous SNV NM_019003 exon2 c.C118A p.R40R 0.954967 0.9948 0.9159 1 Uncertain X_57313357_T->C X 57313357 57313357 T C snp 444.77 1/1 33 16 0 16 1.0 exonic rs2516023 FAAH2 XU synonymous SNV NM_174912 exon1 c.T99C p.G33G 0.529801 0.3861 0.489728 0.4100 0.3692 Uncertain X_57318907_T->A X 57318907 57318907 T A snp 1719.77 1/1 99 60 0 60 1.0 intronic rs4030473 FAAH2 XU NM_174912 exon2 c.5672-23T>A 0.434437 0.3887 0.381804 0.3364 0.3414 Uncertain X_57405163_T->C X 57405163 57405163 T C snp 1060.77 1/1 75 46 0 46 1.0 exonic rs4826543 FAAH2 XU synonymous SNV NM_174912 exon6 c.T822C p.R274R 0.918146 1 0.911767 0.9740 1 Uncertain X_57474943_A->T X 57474943 57474943 A T snp 709.77 1/1 54 21 0 21 1.0 intronic rs1821118 FAAH2 XU NM_174912 exon10 c.161698-13A>T 0.914437 1 0.904194 0.9737 1 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000082704.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain X_57475253_A->C X 57475253 57475253 A C snp 323.78 1/1 27 11 0 11 1.0 intronic rs7059676 FAAH2 XU NM_174912 exon10 c.161893+102A>C 0.43894 0.3848 Uncertain X_57515140_T->G X 57515140 57515140 T G snp 700.77 1/1 51 28 0 28 1.0 intronic rs5915052 FAAH2 XU NM_174912 exon11 c.201931-49T>G 0.437086 0.3848 0.383013 0.3403 0.3519 Uncertain X_57618845_G->A X 57618845 57618845 G A snp 42.77 0/1 71 10 6 4 0.4 exonic rs199513692 ZXDB XU nonsynonymous SNV NM_007157 exon1 c.G364A p.E122K 0.0570 0.0710 0.3 T 1.000 N -1.050 T 0.355 T 0.027 T Pathogenic X_57618849_A->C X 57618849 57618849 A C snp 42.77 0/1 71 10 6 4 0.4 exonic rs200267267 ZXDB XU nonsynonymous SNV NM_007157 exon1 c.A368C p.E123A 0.0646 0.0791 1 T 1 N -0.992 T 0.0 T 0.0 T Pathogenic X_57618870_G->A X 57618870 57618870 G A snp 71.77 0/1 99 13 7 6 0.46 exonic rs189164178 ZXDB XU nonsynonymous SNV NM_007157 exon1 c.G389A p.G130D 0.2281 0.2696 0.48 T 0.0 P -1.047 T 0.002 T 0.002 T Pathogenic X_57619648_G->T X 57619648 57619648 G T snp 4573.77 1/1 99 159 0 159 1.0 exonic rs1057328 ZXDB XU synonymous SNV NM_007157 exon1 c.G1167T p.P389P 0.996026 1 0.996971 0.9989 0.9998 Uncertain X_57936462_G->A X 57936462 57936462 G A snp 140.03 1/1 12 4 0 4 1.0 exonic rs60293829 ZXDA XU synonymous SNV NM_007156 exon1 c.C393T p.N131N 0.270728 0.4084 0.0011 0.0008 Uncertain X_65247461_G->A X 65247461 65247461 G A snp 399.77 1/1 30 14 0 14 1.0 intronic rs781434692 VSIG4 XU NM_001100431 exon4 c.5264+93G>A 0.000264901 0.0013 Uncertain X_65382685_T->C X 65382685 65382685 T C snp 955.77 1/1 69 33 0 33 1.0 exonic rs5919015 HEPH XU nonsynonymous SNV NM_138737 exon1 c.T116C p.V39A 0.920795 0.9974 0.782500 0.8407 1 0.000 P -0.972 T Pathogenic X_65393658_A->G X 65393658 65393658 A G snp 2506.77 1/1 99 87 0 87 1.0 intronic rs5918591 HEPH XU NM_138737 exon4 c.11074+15A>G 1 1 1 1 Uncertain X_65420609_A->G X 65420609 65420609 A G snp 635.77 1/1 48 19 0 19 1.0 intronic rs1264215 HEPH XU NM_138737 exon12 c.38025+15A>G 0.983576 1 0.955126 0.9653 0.9997 Uncertain X_65478922_-->A X 65478922 65478922 - A indel 431.73 1/1 36 16 0 16 1.0 intronic rs11433175 HEPH XU NM_138737 exon18 c.96252+101insA 0.76106 0.9987 Uncertain X_65486172_C->T X 65486172 65486172 C T snp 723.77 1/1 54 20 0 20 1.0 intronic rs2054180 HEPH XU NM_138737 exon21 c.103712-109C>T 0.76106 0.9987 Uncertain X_65819223_A->G X 65819223 65819223 A G snp 141.03 1/1 12 5 0 5 1.0 intronic rs4827499 EDA2R XU 0.661457 0.9961 Uncertain X_65819286_-->T X 65819286 65819286 - T indel 661.73 1/1 66 22 0 22 1.0 intronic rs11379040 EDA2R XU 0.658543 0.9961 0.539389 0.7191 0.9965 Uncertain X_65822607_T->C X 65822607 65822607 T C snp 1392.77 1/1 99 53 0 53 1.0 exonic rs1385698 EDA2R XU nonsynonymous SNV NM_021783 exon5 c.A385G p.T129A 0.929007 1 0.919231 0.9765 1 0.83 T 0.0 P -1.018 T 0.0 T 0.0 T Pathogenic X_65824986_C->T X 65824986 65824986 C T snp 1250.77 1/1 90 45 0 45 1.0 exonic rs1385699 EDA2R XU nonsynonymous SNV NM_021783 exon3 c.G170A p.R57K 0.66543 0.9987 0.559879 0.7988 0.9989 1 T 1.000 P -0.868 T 0.427 T 0.126 T Pathogenic X_66941597_T->G X 66941597 66941597 T G snp 309.78 1/1 24 9 0 9 1.0 intronic rs1337076 AR XR,AD NM_000044 exon6 c.176686-77T>G 0.904901 1 Uncertain X_67412906_G->A X 67412906 67412906 G A snp 1697.77 1/1 99 66 0 66 1.0 intronic rs1191948 OPHN1 XR NM_002547 exon11 c.144570+71G>A 0.997616 1 Uncertain X_67429835_T->- X 67429835 67429835 T - indel 435.73 1/1 41 28 3 25 0.89 intronic rs548307492 OPHN1 XR NM_002547 exon17 c.161729-159delT 0.90596 0.9712 Uncertain X_67431814_A->G X 67431814 67431814 A G snp 565.77 1/1 42 17 0 17 1.0 intronic rs2225124 OPHN1 XR NM_002547 exon18 c.163684-135A>G 0.577219 0.8586 Uncertain X_67652513_A->G X 67652513 67652513 A G snp 56.74 1/1 6 2 0 2 1.0 intronic rs5919563 OPHN1 XR NM_002547 exon24 c.384443-195A>G 0.784106 0.8338 Uncertain X_67719085_G->T X 67719085 67719085 G T snp 789.77 1/1 57 32 0 32 1.0 intronic rs12843249 YIPF6 XU NM_173834 exon1 c.57+120G>T 0.594172 0.8521 Uncertain X_68424753_G->A X 68424753 68424753 G A snp 221.84 1/1 18 10 0 10 1.0 ncRNA_exonic rs5937177 LINC00269 XU 0.344636 0.2696 0.3611 0.2887 Uncertain X_68724980_C->G X 68724980 68724980 C G snp 50.74 1/1 6 2 0 2 1.0 upstream rs1171941 FAM155B XU 0.643444 0.8063 Uncertain X_68725640_T->C X 68725640 68725640 T C snp 5909.77 1/1 99 224 0 224 1.0 exonic rs1171942 FAM155B XU nonsynonymous SNV NM_015686 exon1 c.T515C p.L172P 0.643179 0.8063 0.512978 0.4860 0.8329 0.4 T 0.0 P -1.039 T 0.0 T 0.0 T Pathogenic X_68749098_G->A X 68749098 68749098 G A snp 630.77 1/1 48 18 0 18 1.0 intronic rs56145324 FAM155B XU NM_015686 exon2 c.23882+91G>A 0.256689 0.2866 Uncertain X_68749379_G->A X 68749379 68749379 G A snp 1021.77 1/1 75 35 0 35 1.0 intronic rs35383499 FAM155B XU NM_015686 exon3 c.24288-34G>A 0.406623 0.2984 0.458057 0.5585 0.3200 Uncertain X_68890248_C->T X 68890248 68890248 C T snp 312.78 1/1 24 11 0 11 1.0 intronic rs5936723 EDA XR,XD NM_001005613 exon2 c.53985+111C>T 0.78543 0.9961 Uncertain X_69080840_G->A X 69080840 69080840 G A snp 1909.77 1/1 99 72 0 72 1.0 intronic rs1203003 EDA XR,XD NM_001005613 exon3 c.244743-55G>A 1 1 Uncertain X_69262423_T->C X 69262423 69262423 T C snp 391.77 1/1 30 11 0 11 1.0 intronic rs2296767 AWAT2 XU NM_001002254 exon3 c.579+187T>C 0.875497 0.9254 0.9150 0.9545 Uncertain X_69368853_T->C X 69368853 69368853 T C snp 636.77 1/1 48 20 0 20 1.0 intronic rs650028 IGBP1 XR NM_001551 exon5 c.14893+163T>C 0.820662 0.9424 Uncertain X_69370384_T->G X 69370384 69370384 T G snp 56.74 1/1 6 2 0 2 1.0 intronic rs606039 IGBP1 XR NM_001551 exon6 c.16375+212T>G 0.815364 0.9424 Uncertain X_69459945_C->T X 69459945 69459945 C T snp 992.77 1/1 75 36 0 36 1.0 intronic rs1152194 AWAT1 XU NM_001013579 exon7 c.5440-40C>T 0.967682 1 0.930411 0.9393 0.9995 Uncertain X_69496228_T->C X 69496228 69496228 T C snp 640.77 1/1 48 22 0 22 1.0 intronic rs1572732 ARR3 XU NM_004312 exon7 c.7047-54T>C 0.556026 0.4385 0.628056 Uncertain X_69500852_-->G X 69500852 69500852 - G indel 281.73 0/1 58 20 4 16 0.8 intronic rs35570675 ARR3 XU NM_004312 exon16 c.11713-96insG 0.146225 0.1492 Uncertain X_69502054_A->G X 69502054 69502054 A G snp 576.77 1/1 42 23 0 23 1.0 UTR5 rs5936549 RAB41 XU 0.775894 0.8927 0.731610 0.8455 0.9114 Uncertain X_69502479_A->G X 69502479 69502479 A G snp 2484.77 1/1 99 88 0 88 1.0 intronic rs1626469 RAB41 XU NM_001032726 exon2 c.374+38A>G 0.969536 1 0.933636 0.9435 0.9995 Uncertain X_69504073_T->C X 69504073 69504073 T C snp 265.98 0/1 13 12 2 10 0.83 intronic rs2275412 RAB41 XU NM_001032726 exon7 c.2048-42T>C 0.765563 0.8861 0.6701 0.6812 Uncertain X_69504078_T->G X 69504078 69504078 T G snp 305.77 1/1 24 12 0 12 1.0 intronic rs12556489 RAB41 XU NM_001032726 exon7 c.2048-37T>G 0.775894 0.8901 0.6459 0.62 Uncertain X_69510335_C->T X 69510335 69510335 C T snp 935.77 1/1 69 27 0 27 1.0 exonic rs1199470 KIF4A XR synonymous SNV NM_012310 exon2 c.C27T p.P9P 0.995232 1 0.993181 0.9927 1 Uncertain X_69550080_A->G X 69550080 69550080 A G snp 4219.77 1/1 99 153 0 153 1.0 exonic rs5936873 KIF4A XR synonymous SNV NM_012310 exon9 c.A969G p.T323T 0.0850331 0.267 0.024898 0.0395 0.2770 Uncertain X_69572242_G->A X 69572242 69572242 G A snp 56.74 1/1 6 2 0 2 1.0 intronic rs1199428 KIF4A XR NM_012310 exon14 c.62141-207G>A 0.969536 1 Uncertain X_69625447_C->T X 69625447 69625447 C T snp 99.28 1/1 9 3 0 3 1.0 intronic rs1925925 KIF4A XR NM_012310 exon26 c.115369-230C>T 0.88053 1 Uncertain X_69639698_G->T X 69639698 69639698 G T snp 1861.77 1/1 99 64 0 64 1.0 intronic rs1886892 KIF4A XR NM_012310 exon30 c.129325+65G>T 0.993642 1 Uncertain X_69652762_A->G X 69652762 69652762 A G snp 1281.77 1/1 90 49 0 49 1.0 exonic rs2296542 GDPD2 XU synonymous SNV NM_001171191 exon13 c.A1302G p.R434R 0.851921 0.8901 0.829878 0.9237 0.9131 Uncertain X_69668463_A->G X 69668463 69668463 A G snp 2521.77 1/1 99 89 0 89 1.0 intronic rs2281868 DLG3 XR NM_021120 exon2 c.3711-299A>G 0.576159 0.3403 0.5421 0.3104 1.000 P -0.968 T Uncertain X_69672462_G->C X 69672462 69672462 G C snp 226.84 1/1 18 9 0 9 1.0 intronic rs12850410 DLG3 XR NM_020730 exon1 c.134-143G>C 0.346755 0.2788 0.266531 0.3343 0.3335 Uncertain X_69672655_T->C X 69672655 69672655 T C snp 606.77 1/1 45 23 0 23 1.0 intronic rs12010766 DLG3 XR NM_020730 exon1 c.134+50T>C 0.576159 0.3848 0.564974 0.5023 0.3888 Uncertain X_69673902_T->G X 69673902 69673902 T G snp 88.28 1/1 9 3 0 3 1.0 ncRNA_intronic rs2274310 DLG3-AS1 XU 0.111788 0.2513 Uncertain X_69718314_C->T X 69718314 69718314 C T snp 965.77 1/1 72 40 0 40 1.0 intronic rs1886890 DLG3 XR NM_021120 exon14 c.53318-55C>T 0.558146 0.3325 0.559722 Uncertain X_69718534_TCAT->- X 69718534 69718537 TCAT - indel 415.8 1/1 18 8 0 8 1.0 intronic rs3215810 DLG3 XR NM_021120 exon14 c.53369+114_53369+117delTCAT Uncertain X_69749139_G->A X 69749139 69749139 G A snp 1880.77 1/1 99 72 0 72 1.0 intronic rs73538738 TEX11 XR NM_031276 exon1 c.93+102G>A 0.128477 0.1453 Uncertain X_69749852_A->G X 69749852 69749852 A G snp 1038.77 1/1 75 40 0 40 1.0 splicing rs1536250 TEX11 XR NM_031276 exon2 c.905+3A>G 0.899603 0.8887 0.829878 0.9334 0.8770 Pathogenic X_69749853_T->A X 69749853 69749853 T A snp 1036.77 1/1 75 40 0 40 1.0 splicing rs1536251 TEX11 XR NM_031276 exon2 c.905+4T>A 0.899603 0.8887 0.832907 0.9332 0.8768 Pathogenic X_69771918_A->G X 69771918 69771918 A G snp 480.77 1/1 36 16 0 16 1.0 intronic rs41303711 TEX11 XR NM_031276 exon3 c.23031-57A>G 0.154437 0.1492 Uncertain X_69773322_C->T X 69773322 69773322 C T snp 1831.77 1/1 99 68 0 68 1.0 intronic rs12690066 TEX11 XR NM_031276 exon4 c.24320+58C>T 0.0484768 0.1401 Uncertain X_69774517_A->T X 69774517 69774517 A T snp 1580.77 1/1 99 60 0 60 1.0 exonic rs4844240 TEX11 XR synonymous SNV NM_001003811 exon27 c.T2319A p.T773T 0.976424 1 0.979267 0.9943 1 Uncertain X_69844797_G->A X 69844797 69844797 G A snp 610.77 1/1 45 20 0 20 1.0 intronic rs1325094 TEX11 XR NM_031276 exon12 c.95830+23G>A 0.689007 0.8835 0.583586 0.6617 0.8701 Uncertain X_70073159_T->C X 70073159 70073159 T C snp 807.77 1/1 60 27 0 27 1.0 exonic rs6525433 TEX11 XR nonsynonymous SNV NM_001003811 exon7 c.A389G p.K130R 0.266755 0.3102 0.137676 0.1330 0.3266 0.000 P -0.904 T 0.003 T 0.011 T Pathogenic X_70080808_A->G X 70080808 70080808 A G snp 1267.77 1/1 93 48 1 47 0.98 intronic rs144220663 TEX11 XR NM_031276 exon26 c.331842+22A>G 0.0953642 0.1558 0.025372 0.0406 0.1544 Uncertain X_70146034_A->G X 70146034 70146034 A G snp 1314.77 1/1 93 50 0 50 1.0 splicing rs41310635 SLC7A3 XU NM_032803 exon2 c.366+6A>G 0.257219 0.3979 0.147212 0.2445 0.4489 Pathogenic X_70146398_A->G X 70146398 70146398 A G snp 870.77 1/1 63 32 0 32 1.0 exonic rs4360450 SLC7A3 XU synonymous SNV NM_001048164 exon10 c.T1599C p.S533S 0.812185 0.9948 0.686440 0.7852 0.9981 Uncertain X_70146475_G->C X 70146475 70146475 G C snp 652.77 1/1 48 24 0 24 1.0 exonic rs6525447 SLC7A3 XU nonsynonymous SNV NM_001048164 exon10 c.C1522G p.L508V 0.400795 0.4634 0.265436 0.2955 0.5177 0.62 T 0.0 P -0.934 T 0.0 T 0.0 T Pathogenic X_70148590_T->C X 70148590 70148590 T C snp 86.28 1/1 9 3 0 3 1.0 intronic rs5936604 SLC7A3 XU NM_032803 exon10 c.3031-103T>C 0.715232 0.9306 Uncertain X_70148927_T->A X 70148927 70148927 T A snp 1825.77 1/1 99 64 0 64 1.0 intronic rs5936605 SLC7A3 XU NM_032803 exon10 c.3190+75T>A 0.870993 0.9228 Uncertain X_70149360_G->A X 70149360 70149360 G A snp 54.74 1/1 6 2 0 2 1.0 intronic rs5936606 SLC7A3 XU NM_032803 exon11 c.3815-117G>A 0.959735 1 Uncertain X_70149404_C->T X 70149404 70149404 C T snp 649.77 1/1 48 23 0 23 1.0 intronic rs5936607 SLC7A3 XU NM_032803 exon11 c.3815-73C>T 0.442649 0.7487 Uncertain X_70282696_A->G X 70282696 70282696 A G snp 1261.77 1/1 54 55 1 54 0.98 intronic rs34211894 SNX12 XU NM_001256187 exon2 c.1765-7A>G 0.614305 0.4071 0.654170 0.5836 0.4366 Uncertain X_70321631_T->G X 70321631 70321631 T G snp 2451.77 1/1 99 86 0 86 1.0 intronic rs5980742 FOXO4 XU NM_001170931 exon3 c.5212+41T>G 0.589669 0.3298 0.609207 0.5027 0.3354 Uncertain X_70330596_T->C X 70330596 70330596 T C snp 725.77 1/1 54 25 0 25 1.0 intronic rs11574625 IL2RG XR NM_000206 exon6 c.2953+58T>C 0.379868 0.322 Uncertain X_70345593_C->T X 70345593 70345593 C T snp 2868.77 1/1 99 103 2 101 0.98 intronic rs2075790 MED12 XR NM_005120 exon17 c.6959+30C>T 0.163444 0.1414 0.131087 0.1395 0.1526 Uncertain X_70348317_G->C X 70348317 70348317 G C snp 986.77 1/1 72 35 0 35 1.0 intronic rs5030617 MED12 XR NM_005120 exon23 c.9686+27G>C 0.183046 0.1414 0.152596 0.1405 0.1493 Uncertain X_70351838_C->T X 70351838 70351838 C T snp 1332.77 1/1 96 51 0 51 1.0 intronic rs6525471 MED12 XR NM_005120 exon30 c.13318-84C>T 0.443179 0.3207 Uncertain X_70352618_CTCTTCTCTTCTCTTCTCTTCTCTT->- X 70352618 70352642 CTCTTCTCTTCTCTTCTCTTCTCTT - indel 2728.73 1/1 51 17 0 17 1.0 intronic MED12 XR NM_005120 exon32 c.14090-76_14090-52delCTCTTCTCTTCTCTTCTCTTCTCTT Uncertain X_70356642_T->C X 70356642 70356642 T C snp 56.74 1/1 6 2 0 2 1.0 intronic rs12852829 MED12 XR NM_005120 exon38 c.18124-86T>C 0.58702 0.3272 Uncertain X_70356704_C->T X 70356704 70356704 C T snp 692.77 1/1 51 21 0 21 1.0 intronic rs41298482 MED12 XR NM_005120 exon38 c.18124-24C>T 0.182517 0.1466 0.151894 0.1380 0.1464 Uncertain X_70361273_C->T X 70361273 70361273 C T snp 647.77 1/1 48 22 0 22 1.0 intronic rs7051453 MED12 XR NM_005120 exon43 c.22616+53C>T 0.183046 0.144 Uncertain X_70373216_C->T X 70373216 70373216 C T snp 1238.77 1/1 90 43 0 43 1.0 intronic rs2233440 NLGN3 XO,XL NM_018977 exon3 c.5727-110C>T 0.183046 0.144 Uncertain X_70464406_C->T X 70464406 70464406 C T snp 182.9 1/1 15 5 0 5 1.0 ncRNA_intronic rs138327110 BCYRN1 XU 0.00582781 0.0275 Uncertain X_70469182_G->A X 70469182 70469182 G A snp 1253.77 1/1 93 42 0 42 1.0 ncRNA_intronic rs2341539 BCYRN1 XU 0.999205 1 Uncertain X_70617443_A->G X 70617443 70617443 A G snp 861.77 1/1 66 24 0 24 1.0 ncRNA_intronic rs5980760 BCYRN1 XU 0.984371 1 Uncertain X_70767666_T->C X 70767666 70767666 T C snp 380.77 0/1 99 47 23 24 0.51 ncRNA_intronic rs765698614 BCYRN1 XU 0.0373 0.0069 Uncertain X_70767673_A->C X 70767673 70767673 A C snp 182.77 0/1 99 50 29 21 0.42 ncRNA_intronic BCYRN1 XU 0.0672 0.0391 Uncertain X_70774984_-->TGTG X 70774984 70774984 - TGTG indel 307.8 1/1 18 6 0 6 1.0 ncRNA_intronic rs541950947 BCYRN1 XU Uncertain X_71349753_G->A X 71349753 71349753 G A snp 3182.76 1/1 99 115 0 115 1.0 exonic rs12397326 RGAG4 XU synonymous SNV NM_001024455 exon1 c.C1638T p.R546R 0.307285 0.0393 0.573794 0.6002 0.0390 Uncertain X_71349774_T->C X 71349774 71349774 T C snp 4616.77 1/1 99 155 0 155 1.0 exonic rs12393722 RGAG4 XU synonymous SNV NM_001024455 exon1 c.A1617G p.G539G 0.385166 0.1571 0.606723 0.6372 0.1807 Uncertain X_71351443_A->G X 71351443 71351443 A G snp 265.8 1/1 21 8 0 8 1.0 UTR5 rs62614085 RGAG4 XU 0.387815 0.1558 Uncertain X_71352187_C->G X 71352187 71352187 C G snp 256.8 1/1 21 9 0 9 1.0 intronic rs7471996 NHSL2 XU NM_001013627 exon2 c.221147+103C>G 0.418013 0.1558 Uncertain X_71354140_T->C X 71354140 71354140 T C snp 1163.77 1/1 84 42 0 42 1.0 intronic NHSL2 XU NM_001013627 exon3 c.223131+72T>C Uncertain X_71357093_G->A X 71357093 71357093 G A snp 877.77 1/1 63 31 0 31 1.0 intronic rs6625949 NHSL2 XU NM_001013627 exon5 c.226138+18G>A 0.914437 1 0.910833 0.9619 1 Uncertain X_71357160_G->T X 71357160 71357160 G T snp 211.84 1/1 18 6 0 6 1.0 intronic rs6625950 NHSL2 XU NM_001013627 exon5 c.226138+85G>T 0.914437 1 Uncertain X_71363415_C->T X 71363415 71363415 C T snp 1930.77 1/1 99 71 0 71 1.0 exonic rs6624597 NHSL2 XU synonymous SNV NM_001013627 exon8 c.C3669T p.P1223P 0.926623 1 0.920811 0.9680 1 Uncertain X_71364479_A->C X 71364479 71364479 A C snp 1372.77 1/1 63 47 1 46 0.98 intronic rs11094247 FLJ44635 XU NM_207422 exon1 c.7+91A>C 0.937483 1 0.928889 Uncertain X_71379702_T->C X 71379702 71379702 T C snp 1919.77 1/1 99 72 0 72 1.0 exonic rs7884806 FLJ44635 XU nonsynonymous SNV NM_207422 exon2 c.T23C p.I8T 0.363444 0.0419 0.585040 0.5932 0.0413 Pathogenic X_71379853_C->T X 71379853 71379853 C T snp 1291.77 1/1 93 45 0 45 1.0 exonic rs7880917 FLJ44635 XU synonymous SNV NM_207422 exon2 c.C174T p.S58S 0.363444 0.0419 0.585724 0.5813 0.0411 Uncertain X_71380152_C->T X 71380152 71380152 C T snp 725.77 1/1 54 25 0 25 1.0 UTR3 rs7881332 FLJ44635 XU 0.363444 0.0419 0.569937 0.5817 0.0416 Uncertain X_71401607_G->A X 71401607 71401607 G A snp 192.9 1/1 15 10 0 10 1.0 exonic rs6525589 PIN4 XU nonsynonymous SNV NM_001170747 exon1 c.G47A p.R16Q 0.712848 0.5366 0.842374 0.8640 0.5309 1 T 0.0 P -0.981 T 0.0 T 0.0 T Pathogenic X_71401614_C->A X 71401614 71401614 C A snp 268.8 1/1 21 12 0 12 1.0 exonic rs7058353 PIN4 XU nonsynonymous SNV NM_001170747 exon1 c.C54A p.S18R 0.712848 0.5366 0.842469 0.8649 0.5333 0.98 T 0.0 P -1.002 T 0.0 T 0.0 T Pathogenic X_71406301_T->C X 71406301 71406301 T C snp 1505.77 1/1 99 58 0 58 1.0 intronic rs6525591 PIN4 XU NM_001170747 exon2 c.4750-9T>C 0.660662 0.983 0.433873 0.5172 0.9916 Uncertain X_71695388_C->G X 71695388 71695388 C G snp 997.77 1/1 72 41 0 41 1.0 intronic HDAC8 XD NM_001166448 exon1 c.34+809C>G 0.240265 0.7042 Uncertain X_71715133_G->A X 71715133 71715133 G A snp 2201.77 1/1 99 79 0 79 1.0 intronic rs72630048 HDAC8 XD NM_018486 exon7 c.165215+15G>A 0.234172 0.716 0.022342 0.1521 0.7711 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000146091.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain X_71788870_T->C X 71788870 71788870 T C snp 50.74 1/1 6 2 0 2 1.0 intronic HDAC8 XD NM_001166422 exon3 c.1128+136T>C 0.417483 0.6571 Uncertain X_71791912_C->T X 71791912 71791912 C T snp 1994.77 1/1 99 81 0 81 1.0 exonic rs11093377 HDAC8 XD synonymous SNV NM_018486 exon2 c.G159A p.Q53Q 0.417483 0.6571 0.230995 0.2488 0.7243 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000146088.1;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain X_71792455_A->C X 71792455 71792455 A C snp 153.77 0/1 55 19 5 14 0.74 intronic HDAC8 XD NM_001166422 exon5 c.4894-45A>C 0.0352 0.0048 Uncertain X_71792461_A->C X 71792461 71792461 A C snp 219.77 0/1 61 21 8 13 0.62 intronic HDAC8 XD NM_001166422 exon5 c.4894-39A>C 0.0376 0.0050 Uncertain X_71819691_A->G X 71819691 71819691 A G snp 1272.77 1/1 90 54 0 54 1.0 intronic PHKA1 XR NM_002637 exon5 c.20989-2149A>G 0.310199 0.6571 0.096681 0.2519 0.7481 0.6 T 0.0 P -1.045 T Uncertain X_71829373_A->C X 71829373 71829373 A C snp 1049.77 1/1 75 38 0 38 1.0 intronic PHKA1 XR NM_002637 exon10 c.28622-100A>C 0.239735 0.6571 Uncertain X_71838438_A->G X 71838438 71838438 A G snp 174.9 1/1 15 5 0 5 1.0 intronic PHKA1 XR NM_002637 exon12 c.37708-121A>G 0.569007 0.6859 Uncertain X_71838881_A->G X 71838881 71838881 A G snp 180.9 1/1 15 5 0 5 1.0 intronic PHKA1 XR NM_002637 exon13 c.38212-182A>G 0.312318 0.6571 Uncertain X_71847026_T->C X 71847026 71847026 T C snp 205.84 1/1 18 6 0 6 1.0 intronic PHKA1 XR NM_002637 exon16 c.46048+127T>C 0.268609 0.6597 Uncertain X_71855222_T->C X 71855222 71855222 T C snp 99.28 1/1 9 3 0 3 1.0 intronic PHKA1 XR NM_002637 exon17 c.54298+73T>C 0.268874 0.661 Uncertain X_71876171_T->C X 71876171 71876171 T C snp 556.77 1/1 42 14 0 14 1.0 intronic PHKA1 XR NM_002637 exon23 c.75241+79T>C 0.417483 0.661 Uncertain X_71933513_CACACA->- X 71933513 71933518 CACACA - indel 5603.73 1/1 99 76 1 75 0.99 intronic rs781975195 PHKA1 XR NM_002637 exon32 c.132799-137_132799-132delCACACA Uncertain X_72066630_C->T X 72066630 72066630 C T snp 329.77 0/1 99 54 23 31 0.57 intronic DMRTC1B XU NM_001080851 exon4 c.1749-88C>T Uncertain X_73043634_-->AGTGATG X 73043634 73043634 - AGTGATG indel 8556.73 1/1 99 88 0 88 1.0 ncRNA_exonic rs200315389 TSIX XU 0.00397351 0.0183 0.0016 0.0189 Uncertain X_73043817_T->C X 73043817 73043817 T C snp 1925.77 1/1 99 75 0 75 1.0 ncRNA_exonic rs1620574 TSIX XU 0.646358 0.9503 0.468259 0.4938 0.9560 Uncertain X_73046579_C->T X 73046579 73046579 C T snp 1722.77 1/1 99 58 0 58 1.0 ncRNA_exonic rs750604261 TSIX XU 0.0010596 0.0052 0.0002 0.0026 Uncertain X_73065657_T->G X 73065657 73065657 T G snp 228.77 0/1 99 40 20 20 0.5 ncRNA_exonic rs773896635 XIST XU 0.0008 0.0006 Uncertain X_73065663_C->G X 73065663 73065663 C G snp 81.77 0/1 99 40 25 15 0.38 ncRNA_exonic rs774860836 XIST XU 0.0004 0.0008 Uncertain X_73066439_T->C X 73066439 73066439 T C snp 2156.77 1/1 99 69 0 69 1.0 ncRNA_exonic rs1894271 XIST XU 0.373775 0.9385 0.161547 0.2712 0.9463 Uncertain X_73641569_T->C X 73641569 73641569 T C snp 389.77 1/1 30 17 0 17 1.0 exonic rs6647476 SLC16A2 XD nonsynonymous SNV NM_006517 exon1 c.T97C p.S33P 0.663841 0.9712 0.461523 0.5610 0.9659 0.47 T 0.0 P -0.880 T 0.898 T 0.403 P CLINSIG=non-pathogenic|non-pathogenic;CLNDBN=Allan-Herndon-Dudley_syndrome|not_specified;CLNREVSTAT=no_assertion_criteria_provided|criteria_provided\x2c_multiple_submitters\x2c_no_conflicts;CLNACC=RCV000020650.1|RCV000081443.4;CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet|MedGen;CLNDSDBID=NBK26373:C0795889:300523:ORPHA59|CN169374 Pathogenic X_73811648_G->A X 73811648 73811648 G A snp 43.77 0/1 72 54 47 7 0.13 exonic rs200629905 RLIM XR nonsynonymous SNV NM_183353 exon5 c.C1502T p.S501L 0.0002 0 0.37 T 0.950 D -1.071 T 0.0 T 0.0 T ID=COSM72445;OCCURENCE=1(ovary),2(kidney),2(prostate),12(large_intestine) Pathogenic X_73811695_A->G X 73811695 73811695 A G snp 97.77 0/1 99 104 88 16 0.15 exonic rs374955178 RLIM XR synonymous SNV NM_183353 exon5 c.T1455C p.S485S 0.0007 0.0003 Uncertain X_74289344_C->T X 74289344 74289344 C T snp 93.28 1/1 9 3 0 3 1.0 intronic rs5981317 ABCB7 XR NM_001271697 exon6 c.16085+55C>T 0.607152 0.9306 Uncertain X_74332585_-->T X 74332585 74332585 - T indel 156.77 1/1 21 7 0 7 1.0 intronic rs4148838 ABCB7 XR NM_001271697 exon13 c.59516-135insT 0.749669 0.9359 Uncertain X_74334687_T->C X 74334687 74334687 T C snp 2478.77 1/1 99 95 0 95 1.0 intronic rs4148837 ABCB7 XR NM_004299 exon15 c.61465+18T>C 0.356821 0.9058 0.110859 0.2335 0.9297 Uncertain X_74375871_G->C X 74375871 74375871 G C snp 1172.77 1/1 64 43 1 42 0.98 intronic rs1039123 ABCB7 XR NM_001271697 exon15 c.102735-68G>C 0.916026 1 Uncertain X_74376420_C->T X 74376420 74376420 C T snp 1214.77 1/1 90 37 0 37 1.0 upstream rs5981325 ABCB7 XR 0.916291 1 Uncertain X_74376763_G->C X 74376763 74376763 G C snp 96.28 1/1 9 3 0 3 1.0 upstream rs5937966 ABCB7 XR 0.884768 0.9987 Uncertain X_74494470_T->G X 74494470 74494470 T G snp 3070.77 1/1 99 108 0 108 1.0 exonic rs4892396 UPRT XU synonymous SNV NM_145052 exon1 c.T381G p.R127R 0.925563 1 0.904450 0.9726 1 Uncertain X_74494483_A->G X 74494483 74494483 A G snp 2631.77 1/1 99 92 0 92 1.0 intronic rs5981831 UPRT XU NM_145052 exon1 c.386+8A>G 0.785695 0.9699 0.777450 0.9084 0.9761 Uncertain X_74494612_T->G X 74494612 74494612 T G snp 220.84 1/1 18 6 0 6 1.0 intronic rs778446133 UPRT XU NM_145052 exon1 c.386+137T>G 0.00450331 0.0013 Uncertain X_74511202_G->C X 74511202 74511202 G C snp 534.77 1/1 39 21 0 21 1.0 intronic rs5981834 UPRT XU NM_145052 exon2 c.19217-2104G>C 0.803444 0.9699 0.9279 0.9485 Uncertain X_74523367_A->G X 74523367 74523367 A G snp 575.77 1/1 42 20 0 20 1.0 UTR3 rs972561 UPRT XU 0.802649 0.9699 0.800019 0.9268 0.9792 Uncertain X_74648816_T->A X 74648816 74648816 T A snp 1004.77 1/1 72 36 0 36 1.0 intronic rs1936915 ZDHHC15 XD NM_001146256 exon6 c.49926-96T>A 0.375364 0.8521 Uncertain X_74961837_A->G X 74961837 74961837 A G snp 1523.77 1/1 99 53 0 53 1.0 ncRNA_exonic rs6647813 TTC3P1 XU 0.355232 0.8508 0.2639 0.8753 Uncertain X_75004529_C->A X 75004529 75004529 C A snp 2752.77 1/1 99 95 0 95 1.0 exonic rs1343879 MAGEE2 XU stopgain NM_138703 exon1 c.G358T p.E120X 0.275497 0.8416 0.028969 0.1655 0.8709 0.6 T 1.0 P Pathogenic X_77286831_T->- X 77286831 77286831 T - indel 256.75 1/1 24 9 0 9 1.0 intronic rs5902762 ATP7A XR NM_001282224 exon15 c.59759-66delT 1 1 Uncertain X_77296047_G->C X 77296047 77296047 G C snp 1859.77 1/1 99 69 0 69 1.0 intronic ATP7A XR NM_001282224 exon18 c.68950-41G>C 1 1 1 1 Uncertain X_77298857_G->A X 77298857 77298857 G A snp 1002.77 1/1 72 35 0 35 1.0 exonic ATP7A XR nonsynonymous SNV NM_000052 exon21 c.G4048A p.E1350K 1 1 1 1 1 T 0.001 P -0.903 T 0.0 T 0.0 T CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000078036.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic X_77528317_G->A X 77528317 77528317 G A snp 2575.77 1/1 99 94 1 93 0.99 exonic rs320995 CYSLTR1 XU synonymous SNV NM_006639 exon3 c.C927T p.F309F 0.663046 0.6086 0.740057 0.7314 0.6357 ID=CM0910114;DIS=Asthma, association with;TAG=DP;PUB=18829683 DP Uncertain X_78426471_C->T X 78426471 78426471 C T snp 1163.77 1/1 84 42 0 42 1.0 UTR5 rs3810712 GPR174 XU 0.443179 0.4241 0.528259 0.5122 0.4033 Uncertain X_78426488_T->C X 78426488 78426488 T C snp 1480.77 1/1 99 53 0 53 1.0 UTR5 rs3810711 GPR174 XU 0.46596 0.4241 0.531004 0.5293 0.4083 Uncertain X_78426988_T->C X 78426988 78426988 T C snp 4253.77 1/1 99 141 0 141 1.0 exonic rs3827440 GPR174 XU nonsynonymous SNV NM_032553 exon1 c.T484C p.S162P 0.466755 0.4241 0.531099 0.5227 0.4064 0.26 T 0.0 P -0.932 T 0.0 T 0.0 T ID=CM136723;DIS=Graves' disease, increased risk;TAG=DP;PUB=23667180 DP Pathogenic X_78617053_A->G X 78617053 78617053 A G snp 314.78 1/1 24 11 0 11 1.0 intronic rs1736662 ITM2A XU NM_004867 exon2 c.391+77A>G 0.923444 1 Uncertain X_78617999_T->C X 78617999 78617999 T C snp 227.84 1/1 18 8 0 8 1.0 intronic rs1751133 ITM2A XU NM_004867 exon3 c.1492-78T>C 0.922914 1 Uncertain X_78618050_A->G X 78618050 78618050 A G snp 879.77 1/1 63 31 0 31 1.0 intronic rs1751134 ITM2A XU NM_004867 exon3 c.1492-27A>G 0.922384 1 0.889078 0.9028 0.9998 Uncertain X_79937084_G->A X 79937084 79937084 G A snp 99.28 1/1 9 3 0 3 1.0 intronic rs3122406 BRWD3 XR NM_153252 exon2 c.4891+86G>A 0.605828 0.7304 Uncertain X_79937617_C->T X 79937617 79937617 C T snp 790.77 1/1 60 31 0 31 1.0 intronic rs59483641 BRWD3 XR NM_153252 exon3 c.5486+24C>T 0.0762914 0.1558 0.045726 0.0303 0.1323 Uncertain X_79943569_T->C X 79943569 79943569 T C snp 3024.77 1/1 99 110 0 110 1.0 exonic rs3122407 BRWD3 XR nonsynonymous SNV NM_153252 exon34 c.A3863G p.K1288R 0.989669 1 0.990249 0.9972 1 0.000 P -0.971 T 0.0 T 0.001 T Pathogenic X_79975280_T->C X 79975280 79975280 T C snp 256.8 1/1 21 8 0 8 1.0 intronic rs145447791 BRWD3 XR NM_153252 exon24 c.43048+125T>C 0.0339073 0.1243 Uncertain X_79989018_C->G X 79989018 79989018 C G snp 1065.77 1/1 75 43 0 43 1.0 intronic rs4240018 BRWD3 XR NM_153252 exon30 c.56888+23C>G 0.743576 0.9607 0.516960 0.4981 0.9680 Uncertain X_82764040_A->G X 82764040 82764040 A G snp 3825.77 1/1 99 139 2 137 0.99 exonic rs5921978 POU3F4 XR synonymous SNV NM_000307 exon1 c.A708G p.E236E 0.99894 1 1 1 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000036259.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain X_82764042_G->C X 82764042 82764042 G C snp 3825.77 1/1 99 139 2 137 0.99 exonic rs5921979 POU3F4 XR nonsynonymous SNV NM_000307 exon1 c.G710C p.G237A 0.993907 1 1 1 1 T 0.021 P -0.923 T 0.0 T 0.0 T CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000036257.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Pathogenic X_83119939_T->C X 83119939 83119939 T C snp 707.77 1/1 54 21 0 21 1.0 intronic rs5922000 CYLC1 XU NM_021118 exon1 c.17+3732T>C 0.980132 1 Uncertain X_83124802_A->T X 83124802 83124802 A T snp 54.74 1/1 6 2 0 2 1.0 intronic rs5968237 CYLC1 XU NM_001271680 exon2 c.8682-70A>T 0.982517 1 Uncertain X_83442984_CCGCCGCCGCCG->- X 83442984 83442995 CCGCCGCCGCCG - indel 3785.73 1/1 81 61 0 61 1.0 upstream rs781452815 RPS6KA6 XU Uncertain X_84258843_C->G X 84258843 84258843 C G snp 927.77 1/1 66 35 0 35 1.0 upstream rs3747422 APOOL XU 0.772715 0.6361 0.735833 Uncertain X_84349317_G->A X 84349317 84349317 G A snp 1433.77 1/1 99 51 0 51 1.0 intronic rs184210743 SATL1 XU NM_001012980 exon2 c.1691+82G>A 0.00503311 0.0144 Uncertain X_84350010_A->G X 84350010 84350010 A G snp 1846.77 1/1 99 70 0 70 1.0 intronic rs4828326 SATL1 XU NM_001012980 exon3 c.2458+8A>G 0.65351 0.6047 0.619260 0.7106 0.6785 Uncertain X_84350128_G->T X 84350128 84350128 G T snp 552.77 1/1 42 15 0 15 1.0 intronic rs4828327 SATL1 XU NM_001012980 exon3 c.2458+126G>T 0.666755 0.6073 Uncertain X_84358864_C->T X 84358864 84358864 C T snp 1473.77 1/1 99 63 0 63 1.0 splicing rs5922146 SATL1 XU NM_001012980 exon4 c.11325-5C>T 0.78649 0.6401 0.749219 0.7196 0.6801 Pathogenic X_84363140_A->G X 84363140 84363140 A G snp 3340.77 1/1 99 113 0 113 1.0 exonic rs10126146 SATL1 XU nonsynonymous SNV NM_001012980 exon1 c.T835C p.W279R 0.757086 0.6387 0.715990 0.7112 0.6773 0.55 T 0.0 P -1.020 T 0.017 T 0.004 T Pathogenic X_84520059_T->C X 84520059 84520059 T C snp 316.78 1/1 24 11 0 11 1.0 intronic rs12560186 ZNF711 XU NM_021998 exon6 c.17545-64T>C 0.233907 0.1283 Uncertain X_84520105_G->A X 84520105 84520105 G A snp 652.77 1/1 48 23 0 23 1.0 intronic rs12557399 ZNF711 XU NM_021998 exon6 c.17545-18G>A 0.233113 0.1283 0.238542 0.1765 0.1496 Uncertain X_84534383_A->C X 84534383 84534383 A C snp 1675.77 1/1 99 67 1 66 0.99 UTR3 rs2227090 POF1B XU 0.988609 0.9987 0.994118 0.9874 0.9855 Uncertain X_84534483_ATT->- X 84534483 84534485 ATT - indel 1139.73 1/1 54 19 0 19 1.0 intronic rs363789 POF1B XU NM_024921 exon1 c.6+51_6+53delATT 0.0945695 0.0196 0.099174 0.0383 0.0249 Uncertain X_84558489_G->C X 84558489 84558489 G C snp 186.9 1/1 15 9 0 9 1.0 exonic rs363754 POF1B XU synonymous SNV NM_024921 exon15 c.C1572G p.L524L 0.0977483 0.0196 0.103687 0.0472 0.0276 Uncertain X_84559177_G->T X 84559177 84559177 G T snp 56.74 1/1 6 2 0 2 1.0 intronic rs67363731 POF1B XU NM_024921 exon4 c.24922-171G>T 0.276291 0.1283 Uncertain X_84561465_G->C X 84561465 84561465 G C snp 225.84 1/1 18 7 0 7 1.0 intronic rs363780 POF1B XU NM_024921 exon6 c.26913+126G>C 0.230728 0.1257 Uncertain X_84563135_T->A X 84563135 84563135 T A snp 1590.77 1/1 99 63 0 63 1.0 exonic rs363774 POF1B XU nonsynonymous SNV NM_024921 exon10 c.A1045T p.M349L 0.912053 0.9463 0.830541 0.8530 0.9765 1 T 0.0 P -0.947 T 0.0 T 0.0 T Pathogenic X_84569256_G->C X 84569256 84569256 G C snp 552.77 1/1 42 16 0 16 1.0 intronic rs17004160 POF1B XU NM_024921 exon9 c.35011-181G>C 0.233907 0.1283 Uncertain X_85906213_C->T X 85906213 85906213 C T snp 1060.77 1/1 78 36 1 35 0.97 intronic rs6623751 DACH2 XU NM_001139515 exon4 c.274331+43C>T 0.480795 0.8128 0.320648 0.3581 0.8407 Uncertain X_85969403_A->C X 85969403 85969403 A C snp 56.74 1/1 6 2 0 2 1.0 intronic rs5967753 DACH2 XU NM_001139515 exon6 c.337711-147A>C 1 1 Uncertain X_86869611_C->A X 86869611 86869611 C A snp 1083.77 1/1 78 40 0 40 1.0 intronic rs6617455 KLHL4 XU NM_057162 exon3 c.96677+38C>A 0.0471523 0.1139 0.001610 0.0347 0.1211 Uncertain X_88008423_A->C X 88008423 88008423 A C snp 727.77 1/1 54 25 0 25 1.0 exonic rs5940915 CPXCR1 XU nonsynonymous SNV NM_001184771 exon3 c.A8C p.Y3S 0.913642 0.9228 0.905583 0.9067 0.9280 0.000 P -1.001 T 0.0 T 0.0 T Pathogenic X_88009322_A->G X 88009322 88009322 A G snp 704.77 1/1 51 24 0 24 1.0 UTR3 rs5984613 CPXCR1 XU 0.913642 0.9228 0.906925 0.8986 0.9256 Uncertain X_89177673_G->A X 89177673 89177673 G A snp 3645.77 1/1 99 132 0 132 1.0 exonic rs2290380 TGIF2LX XU nonsynonymous SNV NM_138960 exon2 c.G589A p.V197I 0.727417 0.6597 0.760579 0.6990 0.6469 0.0 P -0.979 T 0.0 T 0.0 T Pathogenic X_91456467_C->A X 91456467 91456467 C A snp 2263.77 1/1 99 86 0 86 1.0 intronic rs4252207 PCDH11X XU NM_032968 exon3 c.365951+13C>A 0.156026 0.1754 0.134147 0.2036 0.1906 Uncertain X_91456621_G->T X 91456621 91456621 G T snp 99.28 1/1 9 3 0 3 1.0 intronic rs5942152 PCDH11X XU NM_032968 exon3 c.365951+167G>T 0.913642 0.9882 Uncertain X_91675554_A->T X 91675554 91675554 A T snp 1932.77 1/1 99 76 0 76 1.0 intronic rs145851025 PCDH11X XU NM_032968 exon5 c.552429+32622A>T 0.0593377 0.0864 0.0235 0.0882 Uncertain X_92927634_G->C X 92927634 92927634 G C snp 3155.77 1/1 99 113 0 113 1.0 exonic rs1045686 NAP1L3 XU nonsynonymous SNV NM_004538 exon1 c.C670G p.P224A 0.605563 0.5694 0.611379 0.6356 0.5503 0.3 T 0.0 P -0.992 T 0.258 T 0.067 T Pathogenic X_96048757_C->T X 96048757 96048757 C T snp 56.74 1/1 6 2 0 2 1.0 intronic rs3135400 DIAPH2 XU NM_006729 exon4 c.73200+35500C>T 0.441854 0.3796 Uncertain X_96139406_G->A X 96139406 96139406 G A snp 2029.77 1/1 99 80 0 80 1.0 exonic rs2642219 RPA4 XU nonsynonymous SNV NM_013347 exon1 c.G97A p.A33T 0.401854 0.3743 0.420524 0.3297 0.3677 0.03 T 0.0 P -1.004 T 0.18 T 0.035 T ID=CM076485;DIS=Altered level of single strand breaks;TAG=FP;PUB=17145065 FP Pathogenic X_96139459_T->C X 96139459 96139459 T C snp 3038.77 1/1 99 107 0 107 1.0 exonic rs2642218 RPA4 XU synonymous SNV NM_013347 exon1 c.T150C p.N50N 0.406093 0.3743 0.423175 0.3313 0.3699 Uncertain X_96197175_G->A X 96197175 96197175 G A snp 615.77 1/1 45 25 0 25 1.0 intronic rs5920973 DIAPH2 XU NM_006729 exon13 c.257078+40G>A 0.994967 1 0.990529 0.9972 1 Uncertain X_99919733_G->A X 99919733 99919733 G A snp 670.77 1/1 48 26 0 26 1.0 intronic rs2022475 SRPX2 XU NM_014467 exon5 c.18451-37G>A 0.748344 0.8442 0.795377 0.8906 0.8482 Uncertain X_99919752_C->- X 99919752 99919752 C - indel 1405.73 1/1 99 34 0 34 1.0 intronic rs776546961 SRPX2 XU NM_014467 exon5 c.18451-18delC 6.978e-05 0.0010 Uncertain X_99926122_G->A X 99926122 99926122 G A snp 261.8 1/1 21 7 0 7 1.0 UTR3 rs5967163 SRPX2 XU 0.965563 1 Uncertain X_99930892_T->C X 99930892 99930892 T C snp 269.8 1/1 21 9 0 9 1.0 UTR3 rs4828041 SYTL4 XU 0.960795 1 Uncertain X_99941705_T->C X 99941705 99941705 T C snp 2075.77 1/1 99 81 0 81 1.0 exonic rs2022039 SYTL4 XU nonsynonymous SNV NM_001174068 exon12 c.A1258G p.I420V 0.932715 1 0.913945 0.9754 1 0.000 P -0.899 T 0.001 T 0.003 T Pathogenic X_99941980_T->C X 99941980 99941980 T C snp 99.28 1/1 9 3 0 3 1.0 intronic rs2022040 SYTL4 XU NM_080737 exon7 c.11039-83T>C 0.93298 1 Uncertain X_99945545_T->A X 99945545 99945545 T A snp 734.77 1/1 54 29 0 29 1.0 intronic rs17329133 SYTL4 XU NM_080737 exon11 c.14535-14T>A 0.0953642 0.2723 0.007384 0.0475 0.2702 Uncertain X_99946267_C->T X 99946267 99946267 C T snp 1694.77 1/1 99 61 0 61 1.0 intronic rs17849207 SYTL4 XU NM_080737 exon12 c.15182+61C>T 0.0921854 0.2723 Uncertain X_100212525_T->C X 100212525 100212525 T C snp 1144.77 1/1 81 42 0 42 1.0 intergenic rs6616208 XKRX XU 0.583841 0.8508 Uncertain X_100242305_G->A X 100242305 100242305 G A snp 353.78 1/1 27 12 0 12 1.0 intronic rs5921702 ARL13A XU NM_001162491 exon6 c.13700-73G>A 0.784371 0.9568 Uncertain X_100243459_G->T X 100243459 100243459 G T snp 2125.77 1/1 99 67 0 67 1.0 intronic rs3934462 ARL13A XU NM_001162491 exon7 c.14594+187G>T 0.913377 0.966 0.896965 0.9262 0.9533 Uncertain X_100245606_A->G X 100245606 100245606 A G snp 2294.77 1/1 99 86 0 86 1.0 UTR3 rs6523438 ARL13A XU 0.856424 0.9594 0.837500 0.8469 0.9427 Uncertain X_100383959_G->A X 100383959 100383959 G A snp 56.74 1/1 6 2 0 2 1.0 intronic CENPI XU NM_006733 exon11 c.27766+134G>A Uncertain X_100505617_G->C X 100505617 100505617 G C snp 908.77 1/1 66 31 0 31 1.0 intronic rs3747280 DRP2 XU NM_001939 exon15 c.18933+48G>C 0.279205 0.2382 0.344220 0.3297 0.2620 Uncertain X_100511098_C->T X 100511098 100511098 C T snp 399.77 1/1 30 13 0 13 1.0 intronic rs3213505 DRP2 XU NM_001939 exon21 c.24470-8C>T 0.280795 0.2448 0.344978 0.3280 0.2570 Uncertain X_100514986_G->A X 100514986 100514986 G A snp 961.77 1/1 69 36 0 36 1.0 intronic rs5967281 DRP2 XU NM_001939 exon23 c.28401-51G>A 0.419868 0.2749 0.485967 Uncertain X_100515792_A->G X 100515792 100515792 A G snp 54.74 1/1 6 2 0 2 1.0 UTR3 rs4828078 DRP2 XU 0.423841 0.2762 Uncertain X_100530313_A->- X 100530313 100530313 A - indel 95.87 1/1 15 8 0 8 1.0 intronic rs199961591 TAF7L XU NM_024885 exon2 c.6089+44delA 0.292185 0.2749 0.3459 0.2927 Uncertain X_100531204_T->C X 100531204 100531204 T C snp 438.77 1/1 33 13 0 13 1.0 intronic rs3761514 TAF7L XU NM_024885 exon4 c.7114-90T>C 0.287417 0.267 Uncertain X_100532621_T->C X 100532621 100532621 T C snp 1074.77 1/1 81 46 0 46 1.0 exonic rs35899692 TAF7L XU nonsynonymous SNV NM_024885 exon9 c.A922G p.S308G 0.180397 0.2657 0.175329 0.1482 0.2800 1 T 0.0 P -1.016 T 0.001 T 0.0 T Pathogenic X_100532924_A->G X 100532924 100532924 A G snp 718.77 1/1 54 23 0 23 1.0 intronic rs3788765 TAF7L XU NM_024885 exon6 c.8856-112A>G 0.316291 0.267 Uncertain X_100532985_T->C X 100532985 100532985 T C snp 1780.77 1/1 99 69 0 69 1.0 intronic rs3788764 TAF7L XU NM_024885 exon6 c.8856-51T>C 0.313907 0.267 0.374523 Uncertain X_100537154_G->A X 100537154 100537154 G A snp 714.77 1/1 54 23 0 23 1.0 intronic rs5991927 TAF7L XU NM_024885 exon9 c.13134-160G>A 0.309669 0.2631 Uncertain X_100547933_A->G X 100547933 100547933 A G snp 2674.77 1/1 99 99 0 99 1.0 exonic rs5951328 TAF7L XU nonsynonymous SNV NM_024885 exon1 c.T101C p.L34P 0.994967 1 0.991669 0.9905 1 0.36 T 0.000 P -0.966 T 0.0 T 0.0 T Pathogenic X_100615023_T->G X 100615023 100615023 T G snp 591.77 1/1 45 18 0 18 1.0 intronic BTK XR NM_001287344 exon11 c.10203-52T>G 0.29457 0.3181 0.151667 Uncertain X_100748078_A->G X 100748078 100748078 A G snp 1211.77 1/1 49 46 2 44 0.96 exonic ARMCX4 XU nonsynonymous SNV NM_001256155 exon2 c.A4502G p.D1501G 1 1 1 1 0.0 P -1.021 T Pathogenic X_100749038_C->T X 100749038 100749038 C T snp 31.77 0/1 48 6 4 2 0.33 exonic ARMCX4 XU nonsynonymous SNV NM_001256155 exon2 c.C5462T p.A1821V 0.5838 0.5593 1.000 N -1.033 T Pathogenic X_100911066_C->T X 100911066 100911066 C T snp 2018.77 1/1 99 70 0 70 1.0 exonic ARMCX2 XU synonymous SNV NM_014782 exon5 c.G1509A p.Q503Q 0.966887 1 0.942630 0.9426 1 Uncertain X_101138792_T->C X 101138792 101138792 T C snp 3360.77 1/1 99 119 0 119 1.0 exonic rs5944882 ZMAT1 XU nonsynonymous SNV NM_001011657 exon7 c.A1607G p.Q536R 1 1 1.0000 1 1 T 0.0 P -0.964 T 0.0 T 0.0 T Pathogenic X_101141777_C->- X 101141777 101141777 C - indel 503.73 1/1 39 13 0 13 1.0 intronic rs67953349 ZMAT1 XU NM_001282401 exon2 c.3222+74delC 1 1 Uncertain X_101141793_G->A X 101141793 101141793 G A snp 185.9 1/1 15 7 0 7 1.0 intronic rs5944778 ZMAT1 XU NM_001282401 exon2 c.3222+90G>A 0.322384 0.0628 Uncertain X_101395780_-->G X 101395780 101395780 - G indel 3015.73 1/1 99 84 0 84 1.0 exonic TCEAL6 XU frameshift insertion NM_001006938 exon3 c.523dupC p.Q175fs 1 1 0.978158 0.9926 0.9960 ID=COSM1464461;OCCURENCE=1(large_intestine) Pathogenic X_101396157_C->T X 101396157 101396157 C T snp 3711.77 1/1 99 138 0 138 1.0 exonic TCEAL6 XU synonymous SNV NM_001006938 exon3 c.G147A p.K49K 0.0492715 0.0524 0.040803 0.0199 0.0375 Uncertain X_101587655_TC->- X 101587655 101587656 TC - indel 352.73 0/1 35 25 3 22 0.88 intergenic NXF2 XU Uncertain X_101587703_T->C X 101587703 101587703 T C snp 440.77 0/1 51 44 10 34 0.77 intergenic NXF2 XU Uncertain X_101623587_TGG->- X 101623587 101623589 TGG - indel 1705.73 1/1 99 67 0 67 1.0 intronic rs76627679 NXF2B XU NM_001099686 exon15 c.8000+66_8000+68delTGG 0.752583 0.9568 0.456928 Uncertain X_102174079_A->G X 102174079 102174079 A G snp 443.77 1/1 33 15 0 15 1.0 intergenic rs143668551 LINC00630 XU 0.093245 0.2199 Uncertain X_102174240_T->C X 102174240 102174240 T C snp 416.77 1/1 33 15 0 15 1.0 intergenic rs1014218 LINC00630 XU 0.415364 0.5262 Uncertain X_102174289_T->C X 102174289 102174289 T C snp 96.28 1/1 9 3 0 3 1.0 intergenic rs34889669 LINC00630 XU Uncertain X_102320979_A->G X 102320979 102320979 A G snp 163.9 1/1 15 5 0 5 1.0 intergenic BEX1 XU Uncertain X_102339606_T->C X 102339606 102339606 T C snp 1438.77 1/1 80 50 1 49 0.98 intronic rs1029305 NXF3 XU NM_022052 exon19 c.8425-36T>C 0.817748 0.8534 0.786046 0.7416 0.8480 Uncertain X_102471531_G->T X 102471531 102471531 G T snp 866.77 1/1 63 26 0 26 1.0 UTR3 rs1064784 BEX4 XU 0.603974 0.7081 Uncertain X_102564583_A->G X 102564583 102564583 A G snp 2016.77 1/1 99 67 0 67 1.0 exonic rs7557 BEX2 XU synonymous SNV NM_001168399 exon3 c.T418C p.L140L 0.832848 0.9843 0.697529 0.7255 0.9941 Uncertain X_102565203_G->C X 102565203 102565203 G C snp 384.77 1/1 30 14 0 14 1.0 intronic rs2246252 BEX2 XU NM_032621 exon2 c.768-82G>C 0.275497 0.4162 Uncertain X_102831217_C->T X 102831217 102831217 C T snp 306.78 1/1 24 11 0 11 1.0 UTR5 rs221946 TCEAL4 XU 0.619868 0.5641 Uncertain X_102930960_A->G X 102930960 102930960 A G snp 532.77 1/1 42 15 0 15 1.0 UTR3 rs874 MORF4L2 XU 0.338808 0.6047 Uncertain X_102979486_T->C X 102979486 102979486 T C snp 1936.77 1/1 99 73 0 73 1.0 exonic rs4907817 GLRA4 XU nonsynonymous SNV NM_001024452 exon3 c.A253G p.I85V 0.986755 1 0.965010 0.9693 1 0.97 T 0.006 P -0.912 T 0.001 T 0.109 T Pathogenic X_103267865_C->T X 103267865 103267865 C T snp 1588.77 1/1 99 53 0 53 1.0 exonic H2BFWT XU nonsynonymous SNV NM_001002916 exon1 c.G368A p.R123H 0.580927 0.6073 0.637569 0.5977 0.5975 0.03 T 0.0 P -0.935 T 0.016 T 0.017 T ID=CM1213153;DIS=Oligospermia, association with;TAG=DP;PUB=22509975 DP Pathogenic X_103268241_G->A X 103268241 103268241 G A snp 3364.77 1/1 99 120 0 120 1.0 UTR5 H2BFWT XU 0.308609 0.3953 0.302671 0.4388 0.4822 ID=CR0910643;DIS=Male infertility, association with;TAG=DFP;PUB=19583817 DFP Uncertain X_103274226_A->G X 103274226 103274226 A G snp 229.84 1/1 18 9 0 9 1.0 intergenic H2BFWT XU 0.580927 0.6073 0.6243 0.5519 Uncertain X_103294760_C->T X 103294760 103294760 C T snp 1925.77 1/1 99 64 0 64 1.0 exonic H2BFM XU stopgain NM_001164416 exon1 c.C217T p.Q73X 0.30649 0.394 0.314444 0.4507 0.4955 0.04 T 1.000 P Pathogenic X_103495088_G->C X 103495088 103495088 G C snp 430.77 1/1 33 14 0 14 1.0 exonic ESX1 XU nonsynonymous SNV NM_153448 exon4 c.C1042G p.L348V 0.0015 0.0018 0.61 T 1 N -1.054 T 0.0 T 0.0 T Pathogenic X_103495090_G->C X 103495090 103495090 G C snp 434.77 1/1 33 14 0 14 1.0 exonic ESX1 XU nonsynonymous SNV NM_153448 exon4 c.C1040G p.P347R 0.0017 0.0018 0.26 T 1 N -0.860 T 0.997 D 0.915 D Pathogenic X_104464277_A->- X 104464277 104464277 A - indel 2035.73 1/1 99 53 0 53 1.0 exonic;splicing rs375033944 TEX13A;TEX13A UN frameshift deletion NM_001291277 exon5 c.599delT p.V200fs 1 1 0.999256 0.9997 0.9996 ID=COSM3723845,COSM3723844;OCCURENCE=2(upper_aerodigestive_tract) Pathogenic X_104464282_C->- X 104464282 104464282 C - indel 1815.73 1/1 99 48 0 48 1.0 splicing rs56118606 TEX13A XU NM_031274 exon3 c.637delC 0.999365 0.9996 0.9998 ID=COSM3723846,COSM3723847;OCCURENCE=2(upper_aerodigestive_tract) Pathogenic X_105132142_C->A X 105132142 105132142 C A snp 123.03 1/1 12 4 0 4 1.0 intronic rs545206 NRK XU NM_198465 exon5 c.65448-144C>A 0.34543 0.2369 Uncertain X_105152282_G->A X 105152282 105152282 G A snp 1132.77 1/1 81 37 1 36 0.97 exonic rs209373 NRK XU nonsynonymous SNV NM_198465 exon12 c.G1072A p.V358M 0.371921 0.2369 0.357351 0.3289 0.2108 0.27 T 0.0 P -0.924 T 0.0 T 0.001 T Pathogenic X_105153001_A->G X 105153001 105153001 A G snp 2781.77 1/1 99 97 0 97 1.0 exonic rs209372 NRK XU synonymous SNV NM_198465 exon13 c.A1368G p.K456K 1 1 1.0000 1 Uncertain X_105179132_C->T X 105179132 105179132 C T snp 1641.77 1/1 99 60 0 60 1.0 intronic rs209095 NRK XU NM_198465 exon21 c.112323-29C>T 0.541457 0.2421 0.710047 0.5312 0.2231 Uncertain X_105278361_C->A X 105278361 105278361 C A snp 2709.77 1/1 99 102 0 102 1.0 exonic rs1804495 SERPINA7 XU nonsynonymous SNV NM_000354 exon4 c.G909T p.L303F 0.179603 0.2592 0.115782 0.1434 0.2332 0.01 T 0.000 P -0.528 T 0.983 D 0.735 D CLINSIG=other;CLNDBN=Thyroxine-binding_globulin\x2c_variant_P;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000010442.2;CLNDSDB=.;CLNDSDBID=. ID=CM920665;DIS=Thyroxine-binding globulin deficiency, association;TAG=DP;PUB=1515456 DP Pathogenic X_106184602_GAGAGAGA->- X 106184602 106184609 GAGAGAGA - indel 1024.73 1/1 33 11 0 11 1.0 UTR3 rs777331609 MORC4 XU Uncertain X_106200145_C->T X 106200145 106200145 C T snp 1289.77 1/1 93 51 0 51 1.0 intronic rs759962231 MORC4 XU NM_024657 exon6 c.15457-20C>T 6.934e-05 0.0009 Uncertain X_106200202_G->A X 106200202 106200202 G A snp 1754.77 1/1 99 68 0 68 1.0 exonic rs6622126 MORC4 XU nonsynonymous SNV NM_001085354 exon12 c.C1418T p.T473I 0.751523 0.9319 0.568872 0.5719 0.9338 0.19 T 0.0 P -1.010 T 0.0 T 0.0 T Pathogenic X_107328436_G->A X 107328436 107328436 G A snp 2137.77 1/1 99 70 0 70 1.0 intronic rs807178 PSMD10 XU NM_002814 exon1 c.154+79G>A 0.810861 0.839 0.761667 Uncertain X_107332134_A->- X 107332134 107332134 A - indel 2197.73 1/1 99 69 0 69 1.0 intronic rs201894843 PSMD10 XU NM_002814 exon4 c.3877+54delA 0.296689 0.1571 Uncertain X_107335261_A->C X 107335261 107335261 A C snp 56.74 1/1 6 2 0 2 1.0 intronic rs807182 ATG4A XU NM_052936 exon1 c.10+195A>C 0.394437 0.1571 Uncertain X_107371905_A->- X 107371905 107371905 A - indel 514.73 1/1 39 13 0 13 1.0 intronic rs61191454 ATG4A XU NM_052936 exon3 c.36954-105delA 0.292715 0.1361 Uncertain X_107393330_-->G X 107393330 107393330 - G indel 1489.73 1/1 99 39 0 39 1.0 intronic rs3215492 ATG4A XU NM_052936 exon10 c.58325-51insG 0.390728 0.1571 0.547369 Uncertain X_107396365_G->A X 107396365 107396365 G A snp 490.77 1/1 36 18 0 18 1.0 intronic rs1883411 ATG4A XU NM_052936 exon12 c.61261+48G>A 0.389934 0.1571 0.545214 0.4407 0.1719 Uncertain X_107415825_T->C X 107415825 107415825 T C snp 403.77 1/1 30 14 0 14 1.0 intronic rs2881142 COL4A6 XR NM_001847 exon14 c.15533+63T>C 0.979073 1 0.975833 Uncertain X_107418281_C->T X 107418281 107418281 C T snp 812.77 1/1 60 32 0 32 1.0 intronic rs2295914 COL4A6 XR NM_001847 exon16 c.18090-38C>T 0.493775 0.2723 0.683045 0.6459 0.3077 Uncertain X_107418906_A->G X 107418906 107418906 A G snp 1803.77 1/1 99 64 0 64 1.0 exonic rs4623610 COL4A6 XR synonymous SNV NM_001847 exon29 c.T2811C p.R937R 0.983841 1 0.983054 0.9951 1 Uncertain X_107423675_ACAC->- X 107423675 107423678 ACAC - indel 3078.73 1/1 99 51 0 51 1.0 intronic rs4036314 COL4A6 XR NM_001847 exon21 c.23515-69_23515-66delACAC 0.449272 0.2356 Uncertain X_107430579_G->A X 107430579 107430579 G A snp 1084.77 1/1 78 37 0 37 1.0 intronic rs1266715 COL4A6 XR NM_001847 exon23 c.30280+70G>A 0.573775 0.3639 Uncertain X_107433688_A->G X 107433688 107433688 A G snp 2662.77 1/1 99 104 0 104 1.0 exonic rs1042065 COL4A6 XR nonsynonymous SNV NM_001847 exon20 c.T1363C p.S455P 0.573245 0.3639 0.742592 0.6851 0.3903 1 T 0.000 P -0.958 T 0.0 T 0.0 T Pathogenic X_107437848_G->C X 107437848 107437848 G C snp 2747.77 1/1 99 97 0 97 1.0 intronic rs1266719 COL4A6 XR NM_001847 exon30 c.37588+31G>C 0.449801 0.2408 0.635236 0.6335 0.2750 0.0 P -0.997 T Uncertain X_107438119_G->T X 107438119 107438119 G T snp 176.9 1/1 15 5 0 5 1.0 intronic rs1266720 COL4A6 XR NM_001847 exon31 c.38082-192G>T 0.573245 0.3639 Uncertain X_107448639_G->T X 107448639 107448639 G T snp 1945.77 1/1 99 75 0 75 1.0 intronic rs1266730 COL4A6 XR NM_001847 exon35 c.48439-29G>T 0.581192 0.3639 0.750166 0.6893 0.3889 Uncertain X_107450101_T->G X 107450101 107450101 T G snp 627.77 1/1 45 26 0 26 1.0 intronic rs1266732 COL4A6 XR NM_001847 exon37 c.49581+291T>G 0.581987 0.3652 Uncertain X_107455014_C->T X 107455014 107455014 C T snp 540.77 1/1 42 19 0 19 1.0 intronic rs1266736 COL4A6 XR NM_001847 exon39 c.54741+44C>T 0.979073 1 0.975194 0.9932 1 Uncertain X_107463091_CCATATTGTATT->- X 107463091 107463102 CCATATTGTATT - indel 2656.73 1/1 54 23 0 23 1.0 intronic rs201304389 COL4A6 XR NM_001847 exon41 c.62743+119_62743+130delCCATATTGTATT 0.458278 0.2448 Uncertain X_107683502_G->- X 107683502 107683502 G - indel 129.87 1/1 15 10 0 10 1.0 intronic rs754808906 COL4A5 XD NM_000495 exon1 c.81+66delG 0.0010596 0.0052 Uncertain X_107683504_G->C X 107683504 107683504 G C snp 66.77 0/1 95 8 5 3 0.38 intronic COL4A5 XD NM_000495 exon1 c.81+68G>C Uncertain X_107683505_G->C X 107683505 107683505 G C snp 109.77 0/1 58 7 2 5 0.71 intronic rs748067439 COL4A5 XD NM_000495 exon1 c.81+69G>C 0.0010596 0.0052 Uncertain X_107834642_A->G X 107834642 107834642 A G snp 489.77 1/1 39 16 0 16 1.0 intronic rs149356362 COL4A5 XD NM_000495 exon21 c.151435-148A>G 0.00821192 0.0406 Uncertain X_108708516_C->T X 108708516 108708516 C T snp 1876.77 1/1 99 68 0 68 1.0 exonic rs502209 GUCY2F XU nonsynonymous SNV NM_001522 exon3 c.G887A p.R296Q 0.948609 1 0.883934 0.8868 1 0.65 T 0.0 P -0.969 T 0.0 T 0.0 T Pathogenic X_108708552_A->G X 108708552 108708552 A G snp 2114.77 1/1 99 70 0 70 1.0 exonic rs12008095 GUCY2F XU nonsynonymous SNV NM_001522 exon3 c.T851C p.L284P 0.161854 0.0497 0.259680 0.2969 0.0478 0.21 T 1.000 P -1.168 T 0.943 T 0.841 D Pathogenic X_108904729_C->T X 108904729 108904729 C T snp 633.77 1/1 48 20 0 20 1.0 intronic rs839408 ACSL4 XU NM_004458 exon3 c.17502-30C>T 0.997086 1 0.994222 0.9915 0.9998 Uncertain X_108917757_T->C X 108917757 108917757 T C snp 287.78 1/1 24 9 0 9 1.0 intronic rs5942830 ACSL4 XU NM_004458 exon8 c.30445+55T>C 0.282384 0.0877 0.430478 Uncertain X_108917773_A->G X 108917773 108917773 A G snp 262.8 1/1 21 7 0 7 1.0 intronic rs5943413 ACSL4 XU NM_004458 exon8 c.30445+71A>G 0.283974 0.0877 Uncertain X_109298414_G->A X 109298414 109298414 G A snp 135.03 1/1 12 4 0 4 1.0 intronic rs12841904 TMEM164 XU NM_032227 exon3 c.63572-12160G>A 0.32053 0.0864 Uncertain X_109325486_T->C X 109325486 109325486 T C snp 2095.77 1/1 99 76 0 76 1.0 intronic rs5942887 TMEM164 XU NM_032227 exon3 c.63622+14862T>C 0.319205 0.0877 0.7222 . Uncertain X_109387928_G->A X 109387928 109387928 G A snp 1122.77 1/1 81 38 0 38 1.0 intronic rs946820 TMEM164 XU NM_017698 exon4 c.35711-97G>A 0.593113 0.089 Uncertain X_114082535_G->A X 114082535 114082535 G A snp 2546.77 1/1 99 86 0 86 1.0 intronic HTR2C XU NM_000868 exon5 c.121220-30G>A 0.926358 0.9869 0.862634 0.8850 0.9921 Uncertain X_114400318_T->G X 114400318 114400318 T G snp 478.77 1/1 36 17 0 17 1.0 intronic LRCH2 XU NM_020871 exon14 c.52625-85T>G 0.927947 0.9856 Uncertain X_114425181_-->GAGGCCGCTCGCCCAACGCCCACAGCG X 114425181 114425181 - GAGGCCGCTCGCCCAACGCCCACAGCG indel 24783.7 1/1 99 135 0 135 1.0 exonic RBMXL3 XU nonframeshift insertion NM_001145346 exon1 c.1177_1178insGAGGCCGCTCGCCCAACGCCCACAGCG p.R393delinsRGRSPNAHSG 0.91894 0.9777 0.9679 0.9817 Uncertain X_114425400_G->A X 114425400 114425400 G A snp 2513.77 1/1 99 95 0 95 1.0 exonic RBMXL3 XU nonsynonymous SNV NM_001145346 exon1 c.G1396A p.G466R 0.711788 0.8822 0.633889 0.7168 0.9054 0 D 0.000 P -1.041 T 0.187 T 0.003 T Pathogenic X_114426171_C->T X 114426171 114426171 C T snp 5637.77 1/1 99 211 5 206 0.98 exonic RBMXL3 XU nonsynonymous SNV NM_001145346 exon1 c.C2167T p.R723C 0.927947 0.9856 0.928889 0.9730 0.9920 0 D 0.0 P -1.057 T 0.0 T 0.0 T Pathogenic X_114426917_C->T X 114426917 114426917 C T snp 2758.77 1/1 99 97 3 94 0.97 exonic RBMXL3 XU synonymous SNV NM_001145346 exon1 c.C2913T p.Y971Y 0.715497 0.8822 0.638611 0.7314 0.8982 Uncertain X_114874220_G->A X 114874220 114874220 G A snp 349.78 1/1 27 9 0 9 1.0 intronic PLS3 XD NM_001282337 exon10 c.29195-201G>A 0.359735 0.4058 Uncertain X_114874505_C->T X 114874505 114874505 C T snp 559.77 1/1 42 17 0 17 1.0 intronic PLS3 XD NM_001282337 exon10 c.29222+57C>T 0.328212 0.4058 Uncertain X_117521338_G->A X 117521338 117521338 G A snp 1045.77 1/1 75 35 0 35 1.0 exonic rs17318100 WDR44 XU synonymous SNV NM_001184965 exon3 c.G147A p.E49E 0.164238 0.1675 0.121011 0.1663 0.1881 Uncertain X_117527364_A->G X 117527364 117527364 A G snp 54.74 1/1 6 2 0 2 1.0 intronic rs4825575 WDR44 XU NM_019045 exon4 c.46768+130A>G 0.576689 0.5798 Uncertain X_117527945_C->G X 117527945 117527945 C G snp 900.77 1/1 66 30 0 30 1.0 intronic rs10127330 WDR44 XU NM_019045 exon5 c.47551-72C>G 0.319735 0.3207 Uncertain X_117527965_C->T X 117527965 117527965 C T snp 981.77 1/1 72 33 0 33 1.0 intronic rs10127331 WDR44 XU NM_019045 exon5 c.47551-52C>T 0.319735 0.3207 Uncertain X_117527971_T->- X 117527971 117527971 T - indel 1538.73 1/1 99 36 0 36 1.0 intronic rs34108225 WDR44 XU NM_019045 exon5 c.47551-46delT 0.319735 0.3207 0.273271 0.2622 0.3207 Uncertain X_117528056_G->A X 117528056 117528056 G A snp 2499.77 1/1 99 88 0 88 1.0 exonic rs17271416 WDR44 XU nonsynonymous SNV NM_001184966 exon4 c.G790A p.A264T 0.162914 0.1675 0.121651 0.1627 0.1867 0.84 T 0.0 P -0.975 T 0.001 T 0.001 T Pathogenic X_117528142_C->T X 117528142 117528142 C T snp 3084.77 1/1 99 110 0 110 1.0 exonic rs6603401 WDR44 XU synonymous SNV NM_001184966 exon4 c.C876T p.T292T 0.576689 0.5798 0.441068 0.3761 0.5924 1.0 P -1.047 T Likely benign X_117531099_C->A X 117531099 117531099 C A snp 709.77 1/1 51 25 0 25 1.0 intronic rs5956969 WDR44 XU NM_019045 exon7 c.50603+30C>A 0.576689 0.5798 0.441015 0.3789 0.5935 Uncertain X_117532516_C->T X 117532516 117532516 C T snp 518.77 1/1 39 16 0 16 1.0 intronic rs6646189 WDR44 XU NM_019045 exon8 c.51967+83C>T 0.319735 0.3207 Uncertain X_117541110_A->G X 117541110 117541110 A G snp 96.28 1/1 9 3 0 3 1.0 intronic rs5956052 WDR44 XU NM_019045 exon10 c.60523+121A>G 0.31947 0.3207 Uncertain X_117544746_C->T X 117544746 117544746 C T snp 511.77 1/1 39 19 0 19 1.0 intronic rs5956977 WDR44 XU NM_019045 exon12 c.64391-111C>T 0.31947 0.3207 Uncertain X_117566782_C->T X 117566782 117566782 C T snp 1182.77 1/1 84 45 0 45 1.0 exonic rs10521584 WDR44 XU synonymous SNV NM_001184966 exon12 c.C1701T p.N567N 0.162914 0.1675 0.121651 0.1630 0.1874 1.000 P -1.030 T Likely benign X_117576117_G->A X 117576117 117576117 G A snp 420.77 1/1 33 12 0 12 1.0 intronic rs56715055 WDR44 XU NM_019045 exon16 c.95740-89G>A 0.162914 0.1675 Uncertain X_117577774_C->G X 117577774 117577774 C G snp 104.28 1/1 9 5 0 5 1.0 intronic rs5957001 WDR44 XU NM_019045 exon18 c.97184+124C>G 0.319735 0.3207 Uncertain X_117577782_T->C X 117577782 117577782 T C snp 104.28 1/1 9 5 0 5 1.0 intronic rs5957002 WDR44 XU NM_019045 exon18 c.97184+132T>C 0.576954 0.5825 Uncertain X_117578172_A->G X 117578172 117578172 A G snp 135.03 1/1 12 4 0 4 1.0 intronic rs4825383 WDR44 XU NM_019045 exon19 c.97856-150A>G 0.319735 0.3207 Uncertain X_117582768_C->G X 117582768 117582768 C G snp 190.9 1/1 15 8 0 8 1.0 intronic rs34131067 WDR44 XU NM_019045 exon20 c.102389-87C>G 0.206887 0.1675 Uncertain X_117742356_C->T X 117742356 117742356 C T snp 1447.77 1/1 99 56 1 55 0.98 intronic rs5910394 DOCK11 XU NM_144658 exon26 c.112385+37C>T 0.557086 0.8665 0.464055 0.5952 0.8594 Uncertain X_117744184_G->C X 117744184 117744184 G C snp 2282.77 1/1 99 80 0 80 1.0 intronic rs4825597 DOCK11 XU NM_144658 exon28 c.114300-50G>C 0.18702 0.3534 0.146739 0.1958 0.3498 Uncertain X_117752743_-->T X 117752743 117752743 - T indel 738.73 1/1 69 26 0 26 1.0 intronic rs200001862 DOCK11 XU NM_144658 exon31 c.122757+52insT 0.181192 0.3678 0.136490 0.1878 0.3430 Uncertain X_117810831_C->T X 117810831 117810831 C T snp 543.77 1/1 42 15 0 15 1.0 intronic rs5957040 DOCK11 XU NM_144658 exon48 c.180766+131C>T 0.587285 0.7814 Uncertain X_117817266_C->T X 117817266 117817266 C T snp 490.77 1/1 36 17 0 17 1.0 intronic rs4372173 DOCK11 XU NM_144658 exon52 c.187246+86C>T 0.923974 0.9856 Uncertain X_117874898_T->C X 117874898 117874898 T C snp 872.77 1/1 66 26 0 26 1.0 intronic rs2246663 IL13RA1 XU NM_001560 exon2 c.13378-81T>C 0.976424 1 Uncertain X_117892291_C->G X 117892291 117892291 C G snp 218.84 1/1 18 6 0 6 1.0 intronic rs2997048 IL13RA1 XU NM_001560 exon5 c.30604+86C>G 0.39947 0.4175 Uncertain X_117904185_A->G X 117904185 117904185 A G snp 2356.77 1/1 99 83 0 83 1.0 intronic rs2248849 IL13RA1 XU NM_001560 exon8 c.39338+3246A>G 0.250331 0.4411 0.1936 0.4797 Uncertain X_117904229_T->C X 117904229 117904229 T C snp 3617.77 1/1 99 124 0 124 1.0 intronic rs2248846 IL13RA1 XU NM_001560 exon8 c.39338+3290T>C 0.250331 0.4411 0.3034 0.5243 0.06 T 1.0 P -0.990 T Uncertain X_117904433_T->C X 117904433 117904433 T C snp 7234.77 1/1 99 250 0 250 1.0 intronic rs2248841 IL13RA1 XU NM_001560 exon9 c.46240-3408T>C 0.395497 0.4542 0.3762 0.5901 0.08 T 0.751 P -0.954 T Uncertain X_117925585_A->- X 117925585 117925585 A - indel 43.73 0/1 81 22 15 7 0.32 intronic rs11318857 IL13RA1 XU NM_001560 exon11 c.64123-139delA 0.386225 0.3665 Uncertain X_117925898_A->G X 117925898 117925898 A G snp 667.77 1/1 51 17 0 17 1.0 UTR3 rs2495636 IL13RA1 XU 0.256159 0.4332 Uncertain X_117938928_G->A X 117938928 117938928 G A snp 909.77 1/1 66 33 0 33 1.0 intergenic rs2495639 IL13RA1 XU 0.397881 0.5026 Uncertain X_118108785_T->C X 118108785 118108785 T C snp 3518.77 1/1 99 127 0 127 1.0 exonic rs3813933 LONRF3 XU synonymous SNV NM_001031855 exon1 c.T42C p.A14A 0.502781 0.7814 0.386176 0.5417 0.8189 Uncertain X_118124694_G->C X 118124694 118124694 G C snp 422.77 1/1 33 13 0 13 1.0 intronic rs3827453 LONRF3 XU NM_001031855 exon5 c.15780+171G>C 0.350199 0.4411 Uncertain X_118146810_C->T X 118146810 118146810 C T snp 1285.77 1/1 93 41 0 41 1.0 intronic rs5910481 LONRF3 XU NM_001031855 exon9 c.38258-191C>T 0.336954 0.4424 0.4672 0.5433 Uncertain X_118215511_C->A X 118215511 118215511 C A snp 375.77 1/1 30 12 0 12 1.0 intronic rs7055713 KIAA1210 XU NM_020721 exon1 c.176+44C>A 0.37298 0.5026 0.261964 0.1948 0.4705 Uncertain X_118219347_T->C X 118219347 118219347 T C snp 2335.77 1/1 99 86 0 86 1.0 exonic rs2305570 KIAA1210 XU nonsynonymous SNV NM_020721 exon12 c.A4847G p.E1616G 0.322119 0.5026 0.201372 0.1725 0.4707 0.52 T 0.0 P -0.930 T 0.0 T 0.0 T Pathogenic X_118220720_A->G X 118220720 118220720 A G snp 2024.77 1/1 99 68 0 68 1.0 exonic rs3813932 KIAA1210 XU synonymous SNV NM_020721 exon11 c.T4473C p.S1491S 0.260927 0.5039 0.134751 0.1469 0.4721 0.0 P Uncertain X_118222360_T->A X 118222360 118222360 T A snp 2105.77 1/1 99 64 0 64 1.0 exonic rs3761592 KIAA1210 XU nonsynonymous SNV NM_020721 exon11 c.A2833T p.I945F 0.282914 0.5026 0.163311 0.1562 0.4694 0.22 T 0.0 P -0.963 T 0.654 T 0.268 P Pathogenic X_118250710_A->C X 118250710 118250710 A C snp 104.28 1/1 9 5 0 5 1.0 intronic rs5957111 KIAA1210 XU NM_020721 exon11 c.35336+83A>C 0.593377 0.6924 Uncertain X_118281538_C->A X 118281538 118281538 C A snp 722.77 1/1 54 28 0 28 1.0 exonic rs5910522 KIAA1210 XU nonsynonymous SNV NM_020721 exon2 c.G308T p.G103V 0.93404 1 0.924349 0.9792 1 1 T 0.0 P -0.967 T 0.0 T 0.0 T Pathogenic X_118281635_-->C X 118281635 118281635 - C indel 277.75 1/1 24 9 0 9 1.0 intronic rs11405916 KIAA1210 XU NM_020721 exon13 c.66265+79insC 0.992318 1 Uncertain X_118514072_A->G X 118514072 118514072 A G snp 1228.77 1/1 90 46 0 46 1.0 intergenic rs217941 LOC101928336 XU 0.493775 0.3704 0.502210 0.4502 0.3845 Uncertain X_118544448_T->C X 118544448 118544448 T C snp 348.78 1/1 27 12 0 12 1.0 intronic rs16274 SLC25A43 XU NM_145305 exon3 c.10959+123T>C 0.984106 1 Uncertain X_118560403_G->C X 118560403 118560403 G C snp 691.77 1/1 51 22 0 22 1.0 intronic rs217997 SLC25A43 XU NM_145305 exon3 c.10959+16078G>C 0.799205 0.6558 Uncertain X_118587003_C->T X 118587003 118587003 C T snp 2654.77 1/1 99 95 0 95 1.0 exonic rs3810755 SLC25A43 XU nonsynonymous SNV NM_145305 exon5 c.C1001T p.P334L 0.567947 0.538 0.586442 0.5745 0.5263 0.87 T 0.897 P -0.936 T 0.0 T 0.0 T Pathogenic X_118603668_A->G X 118603668 118603668 A G snp 38.77 0/1 67 74 67 7 0.09 exonic rs113618375 SLC25A5 XU synonymous SNV NM_001152 exon2 c.A156G p.K52K 0.0035 0.0003 Uncertain X_118603713_T->C X 118603713 118603713 T C snp 199.77 0/1 99 59 45 14 0.24 exonic rs201182381 SLC25A5 XU synonymous SNV NM_001152 exon2 c.T201C p.V67V 0.0260 0.0336 Uncertain X_118603729_G->A X 118603729 118603729 G A snp 290.77 0/1 99 51 36 15 0.29 exonic rs143413528 SLC25A5 XU nonsynonymous SNV NM_001152 exon2 c.G217A p.G73S 0.0193 0.0297 0 D 1.000 P 1.018 D 0.999 D 0.984 D Pathogenic X_118603742_A->C X 118603742 118603742 A C snp 302.77 0/1 99 46 30 16 0.35 exonic rs148294496 SLC25A5 XU nonsynonymous SNV NM_001152 exon2 c.A230C p.N77T 0.0336 0.0486 0 D 1.000 P 0.469 D 1.0 D 0.987 D Pathogenic X_118603747_A->T X 118603747 118603747 A T snp 299.77 0/1 99 45 28 17 0.38 exonic rs141428607 SLC25A5 XU nonsynonymous SNV NM_001152 exon2 c.A235T p.I79F 0.0332 0.0482 0 D 1.000 P 0.743 D 0.991 D 0.834 D Pathogenic X_118603773_T->C X 118603773 118603773 T C snp 332.77 0/1 99 38 20 18 0.47 exonic rs148920941 SLC25A5 XU synonymous SNV NM_001152 exon2 c.T261C p.L87L 0.0419 0.0565 Uncertain X_118603818_T->G X 118603818 118603818 T G snp 240.77 0/1 99 35 23 12 0.34 exonic rs77766798 SLC25A5 XU synonymous SNV NM_001152 exon2 c.T306G p.G102G 0.0620 0.0678 Uncertain X_118603830_A->G X 118603830 118603830 A G snp 232.77 0/1 99 38 27 11 0.29 exonic rs73637847 SLC25A5 XU synonymous SNV NM_001152 exon2 c.A318G p.R106R 0.0389 0.0360 Uncertain X_118603844_T->G X 118603844 118603844 T G snp 650.77 0/1 99 37 7 30 0.81 exonic rs371749 SLC25A5 XU nonsynonymous SNV NM_001152 exon2 c.T332G p.L111R 0.811656 0.6846 0.7190 0.5957 1 T 0.036 P -0.943 T 0.0 T 0.0 T Pathogenic X_118603864_G->A X 118603864 118603864 G A snp 71.77 0/1 99 34 29 5 0.15 exonic rs199707714 SLC25A5 XU nonsynonymous SNV NM_001152 exon2 c.G352A p.A118T 0.0004 0.0003 0 D 1 D 0.011 D 0.479 P 0.166 P Pathogenic X_118603869_G->A X 118603869 118603869 G A snp 67.77 0/1 96 32 28 4 0.13 exonic rs375406763 SLC25A5 XU synonymous SNV NM_001152 exon2 c.G357A p.S119S 0.0005 0.0003 Uncertain X_118603872_T->C X 118603872 118603872 T C snp 69.77 0/1 98 32 28 4 0.13 exonic rs756320158 SLC25A5 XU synonymous SNV NM_001152 exon2 c.T360C p.G120G 0.0005 0.0003 ID=COSM4156554;OCCURENCE=1(thyroid) Uncertain X_118603873_G->T X 118603873 118603873 G T snp 71.77 0/1 99 32 28 4 0.13 exonic rs753913830 SLC25A5 XU nonsynonymous SNV NM_001152 exon2 c.G361T p.G121C 0.0005 0.0003 0 D 1 D 0.690 D 0.992 D 0.948 D Pathogenic X_118603881_A->T X 118603881 118603881 A T snp 74.77 0/1 99 30 26 4 0.13 exonic rs779172013 SLC25A5 XU synonymous SNV NM_001152 exon2 c.A369T p.A123A 0.0005 0.0003 Uncertain X_118604436_T->C X 118604436 118604436 T C snp 778.77 1/1 55 33 0 33 1.0 exonic rs12390 SLC25A5 XU synonymous SNV NM_001152 exon3 c.T699C p.T233T 0.811391 0.6846 0.829121 0.7680 0.6414 Uncertain X_118604553_-->A X 118604553 118604553 - A indel 1123.73 1/1 93 32 0 32 1.0 intronic rs3216181 SLC25A5 XU NM_001152 exon3 c.1998+77insA 0.811656 0.6846 Uncertain X_118699320_A->G X 118699320 118699320 A G snp 5741.77 1/1 99 219 0 219 1.0 UTR5 rs5910616 CXorf56 XU 0.955232 1 0.901070 0.8955 0.9995 Uncertain X_118892888_G->C X 118892888 118892888 G C snp 381.77 1/1 30 11 0 11 1.0 exonic rs2782222 SOWAHD XU synonymous SNV NM_001105576 exon1 c.G258C p.A86A 0.607947 0.4908 0.684728 0.6760 0.5690 Uncertain X_118893054_C->A X 118893054 118893054 C A snp 984.77 1/1 33 38 2 36 0.95 exonic rs2782223 SOWAHD XU synonymous SNV NM_001105576 exon1 c.C424A p.R142R 0.611391 0.4935 0.662790 0.6859 0.5253 Uncertain X_118893137_T->C X 118893137 118893137 T C snp 1581.77 1/1 73 68 2 66 0.97 exonic rs2782224 SOWAHD XU synonymous SNV NM_001105576 exon1 c.T507C p.D169D 0.611391 0.4935 0.650267 0.6451 0.4859 Uncertain X_118893413_T->C X 118893413 118893413 T C snp 2243.77 1/1 99 81 1 80 0.99 exonic rs2782225 SOWAHD XU synonymous SNV NM_001105576 exon1 c.T783C p.S261S 0.644503 0.4935 0.685866 0.6839 0.4886 Uncertain X_118969075_A->C X 118969075 118969075 A C snp 507.77 1/1 39 18 0 18 1.0 intronic rs2239963 UPF3B XR NM_023010 exon1 c.150+85A>C 0.290861 0.445 Uncertain X_118974507_A->C X 118974507 118974507 A C snp 1426.77 1/1 99 52 0 52 1.0 intronic rs2285552 UPF3B XR NM_080632 exon4 c.5768-101A>C 0.56053 0.7997 Uncertain X_118985598_C->T X 118985598 118985598 C T snp 1045.77 1/1 75 35 0 35 1.0 intronic rs2428212 UPF3B XR NM_023010 exon8 c.16724+34C>T 0.792848 0.9319 0.672063 0.6706 0.9454 Uncertain X_119004405_T->A X 119004405 119004405 T A snp 56.74 1/1 6 2 0 2 1.0 downstream rs1858934 RNF113A XD 0.605828 0.8194 Uncertain X_119005705_C->G X 119005705 119005705 C G snp 466.77 1/1 36 13 0 13 1.0 UTR5 rs708463 RNF113A XD 0.803709 0.9555 Uncertain X_119065893_G->A X 119065893 119065893 G A snp 2191.77 1/1 99 83 0 83 1.0 splicing rs194302 NKAP XU NM_024528 exon3 c.6716-5G>A 0.700397 0.4856 0.679547 0.6969 0.5958 Pathogenic X_119070411_T->A X 119070411 119070411 T A snp 228.84 1/1 18 9 0 9 1.0 intronic rs194307 NKAP XU NM_024528 exon6 c.11212+17T>A 0.620927 0.4856 0.579379 0.6117 0.5177 Uncertain X_119070567_A->T X 119070567 119070567 A T snp 353.78 1/1 27 12 0 12 1.0 intronic rs194308 NKAP XU NM_024528 exon7 c.11392-7A>T 0.620662 0.4843 0.552459 0.5881 0.4838 Uncertain X_119070874_C->T X 119070874 119070874 C T snp 96.28 1/1 9 3 0 3 1.0 intronic rs194309 NKAP XU NM_024528 exon7 c.11463+229C>T 0.193113 0.2317 Uncertain X_119387833_-->TGA X 119387833 119387833 - TGA indel 4978.73 1/1 99 106 1 105 0.99 exonic ZBTB33 XU nonframeshift insertion NM_001184742 exon3 c.563_564insTGA p.S188delinsSD 0.514437 0.5929 0.572143 0.6206 0.6249 ID=COSM1465246;OCCURENCE=1(large_intestine) Uncertain X_119389224_A->G X 119389224 119389224 A G snp 1115.77 1/1 81 37 0 37 1.0 exonic ZBTB33 XU nonsynonymous SNV NM_001184742 exon3 c.A1954G p.I652V 0.000794702 0.0039 0.0005 0.0051 0.21 T 0.813 N -1.075 T 0.001 T 0.006 T Pathogenic X_119394904_G->T X 119394904 119394904 G T snp 247.8 1/1 21 8 0 8 1.0 intronic TMEM255A XU NM_001104544 exon1 c.159+21G>T 0.441589 0.572 0.495687 0.5356 0.6187 Uncertain X_119402264_A->C X 119402264 119402264 A C snp 645.77 1/1 48 22 0 22 1.0 intronic TMEM255A XU NM_001104544 exon2 c.7518+22A>C 0.389404 0.5615 0.347629 0.4686 0.6255 Uncertain X_119445015_C->T X 119445015 119445015 C T snp 1491.77 1/1 99 48 0 48 1.0 intronic TMEM255A XU NM_001104544 exon9 c.50382-91C>T 0.62596 0.8403 Uncertain X_119504439_G->A X 119504439 119504439 G A snp 364.28 0/1 9 13 1 12 0.92 intronic rs2075099 ATP1B4 XU NM_001142447 exon3 c.8546-130G>A 0.156556 0.4149 Uncertain X_119510144_C->G X 119510144 119510144 C G snp 235.8 1/1 21 8 0 8 1.0 intronic rs3213723 ATP1B4 XU NM_001142447 exon6 c.14211-90C>G 0.805828 0.6191 Uncertain X_119510456_G->C X 119510456 119510456 G C snp 697.77 1/1 54 18 0 18 1.0 intronic rs3213724 ATP1B4 XU NM_001142447 exon6 c.14268+165G>C 0.190728 0.2539 Uncertain X_119590533_T->A X 119590533 119590533 T A snp 101.28 1/1 9 4 0 4 1.0 exonic rs12097 LAMP2 XD synonymous SNV NM_002294 exon2 c.A156T p.V52V 0.380927 0.3717 0.398561 0.4280 0.4138 CLINSIG=non-pathogenic|non-pathogenic|non-pathogenic;CLNDBN=not_specified|Cardiomyopathy|Danon_disease;CLNREVSTAT=criteria_provided\x2c_multiple_submitters\x2c_no_conflicts|criteria_provided\x2c_single_submitter|criteria_provided\x2c_single_submitter;CLNACC=RCV000037405.5|RCV000126562.2|RCV000126562.2;CLNDSDB=MedGen|MedGen:SNOMED_CT|MedGen:OMIM:Orphanet:SNOMED_CT;CLNDSDBID=CN169374|C0878544:85898001|C0878677:300257:ORPHA34587:419097006 Uncertain X_119677556_TA->- X 119677556 119677557 TA - indel 2629.73 1/1 99 52 0 52 1.0 intronic rs3214123 CUL4B XR NM_001079872 exon13 c.16966-25_16966-24delTA 0.121589 0.2631 0.009997 0.0789 0.2397 Uncertain X_122318386_-->G X 122318386 122318386 - G indel 1460.73 1/1 99 34 0 34 1.0 UTR5 rs58044961 GRIA3 XR 1 1 1.0000 1 Uncertain X_122319917_T->C X 122319917 122319917 T C snp 1959.77 1/1 99 65 0 65 1.0 intronic rs2269551 GRIA3 XR NM_000828 exon2 c.1455+75T>C 0.421722 0.6584 Uncertain X_122336600_-->G X 122336600 122336600 - G indel 1578.73 1/1 99 41 0 41 1.0 intronic rs11452643 GRIA3 XR NM_001256743 exon3 c.18246-33insG 0.99947 1 1 1 Uncertain X_122528803_T->C X 122528803 122528803 T C snp 578.77 1/1 42 22 0 22 1.0 intronic rs550640 GRIA3 XR NM_000828 exon6 c.210431-15T>C 0.520265 0.6819 0.539714 0.5844 0.6128 Uncertain X_122537277_T->C X 122537277 122537277 T C snp 1188.77 1/1 84 47 0 47 1.0 exonic rs502434 GRIA3 XR synonymous SNV NM_000828 exon9 c.T1200C p.N400N 0.529007 0.6872 0.545489 0.5807 0.6161 CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000117156.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain X_122537418_C->T X 122537418 122537418 C T snp 1021.77 1/1 72 40 0 40 1.0 intronic rs504096 GRIA3 XR NM_000828 exon9 c.218983+48C>T 0.553642 0.6872 0.576894 0.5883 0.6146 Uncertain X_122758529_G->A X 122758529 122758529 G A snp 1241.77 1/1 54 43 1 42 0.98 intronic rs2072914 THOC2 XR NM_001081550 exon14 c.13734+9G>A 0.426755 0.699 0.349898 0.3645 0.6815 Uncertain X_122765750_T->C X 122765750 122765750 T C snp 660.77 1/1 48 22 0 22 1.0 intronic rs3764750 THOC2 XR NM_001081550 exon18 c.20917+47T>C 0.349934 0.7042 0.272056 0.3308 0.6858 Uncertain X_122805421_C->A X 122805421 122805421 C A snp 943.77 1/1 69 33 0 33 1.0 intronic rs2105889 THOC2 XR NM_001081550 exon31 c.60733-98C>A 0.87894 0.983 Uncertain X_123040729_C->T X 123040729 123040729 C T snp 101.28 1/1 9 4 0 4 1.0 intronic rs28382739 XIAP XU NM_001167 exon7 c.21325-108C>T 0.263576 0.3469 Uncertain X_123041043_A->G X 123041043 123041043 A G snp 1282.77 1/1 93 45 0 45 1.0 UTR3 rs28382740 XIAP XU 0.267285 0.3469 0.186784 0.2695 0.3975 Uncertain X_123538802_-->AAAC X 123538802 123538802 - AAAC indel 2491.73 1/1 99 44 0 44 1.0 intronic rs199575689 TENM1 XU NM_014253 exon6 c.24495-78insAAAC Uncertain X_123554646_T->C X 123554646 123554646 T C snp 844.77 1/1 60 33 0 33 1.0 exonic rs12013090 TENM1 XU synonymous SNV NM_001163278 exon25 c.A4497G p.A1499A 0.210596 0.1073 0.191139 0.1664 0.0985 Uncertain X_123554726_A->G X 123554726 123554726 A G snp 316.78 1/1 24 11 0 11 1.0 intronic rs2076164 TENM1 XU NM_014253 exon8 c.40286+55A>G 0.154437 0.1257 Uncertain X_128614978_T->A X 128614978 128614978 T A snp 1072.77 1/1 78 37 0 37 1.0 intronic rs3736692 SMARCA1 XU NM_003069 exon8 c.32766-73T>A 0.0370861 0.1335 Uncertain X_128625869_T->C X 128625869 128625869 T C snp 1669.77 1/1 99 58 0 58 1.0 intronic rs2274093 SMARCA1 XU NM_003069 exon12 c.43632-48T>C 0.144371 0.3364 0.100644 0.1085 0.3226 Uncertain X_128633627_T->C X 128633627 128633627 T C snp 746.77 1/1 54 27 0 27 1.0 intronic rs6634747 SMARCA1 XU NM_003069 exon16 c.51423-81T>C 0.164768 0.3325 Uncertain X_128638559_C->A X 128638559 128638559 C A snp 44.74 1/1 6 2 0 2 1.0 intronic rs6637609 SMARCA1 XU NM_003069 exon17 c.56425-151C>A 0.400265 0.5052 Uncertain X_128650164_A->G X 128650164 128650164 A G snp 141.03 1/1 12 4 0 4 1.0 intronic rs6637614 SMARCA1 XU NM_003069 exon23 c.68022-143A>G 0.142517 0.3573 Uncertain X_128657215_C->T X 128657215 128657215 C T snp 2970.77 1/1 99 113 0 113 1.0 exonic rs752043142 SMARCA1 XU nonsynonymous SNV NM_001282874 exon1 c.G133A p.E45K 0.000264901 0.0013 0.0001 0.0014 0.73 T 0.785 D -0.432 T 0.142 T 0.013 T Pathogenic X_128657376_C->T X 128657376 128657376 C T snp 383.77 1/1 30 13 0 13 1.0 UTR5 rs146461342 SMARCA1 XU 0.111258 0.3364 0.057959 0.0874 0.3290 Uncertain X_128788390_T->C X 128788390 128788390 T C snp 343.78 1/1 27 9 0 9 1.0 intronic rs5977130 APLN XU NM_017413 exon3 c.5938-150T>C 0.482914 0.8115 Uncertain X_128875978_G->A X 128875978 128875978 G A snp 1558.77 1/1 99 59 0 59 1.0 intronic rs5975146 XPNPEP2 XU NM_003399 exon2 c.2894-105G>A 0.315497 0.4385 Uncertain X_128885512_AAGA->- X 128885512 128885515 AAGA - indel 248.8 1/1 18 6 0 6 1.0 intronic XPNPEP2 XU NM_003399 exon9 c.12531-208_12531-205delAAGA Uncertain X_128927890_T->C X 128927890 128927890 T C snp 52.74 1/1 6 3 0 3 1.0 UTR3 rs859577 SASH3 XU 0.818543 0.9987 Uncertain X_128948893_T->C X 128948893 128948893 T C snp 54.74 1/1 6 2 0 2 1.0 intronic rs5932686 ZDHHC9 XU NM_016032 exon6 c.8426+122T>C 0.921854 0.7749 Uncertain X_128957640_T->C X 128957640 128957640 T C snp 1820.77 1/1 99 63 0 63 1.0 intronic rs2275605 ZDHHC9 XU NM_016032 exon7 c.17309-14T>C 0.80053 0.5366 0.932974 0.9070 0.5060 Uncertain X_129147079_T->C X 129147079 129147079 T C snp 3935.77 1/1 99 142 0 142 1.0 exonic rs4830173 BCORL1 XU nonsynonymous SNV NM_021946 exon3 c.T331C p.F111L 1 1 1.0000 0.9998 0.37 T 0.0 P -0.989 T 0.0 T 0.0 T Pathogenic X_129370131_-->T X 129370131 129370131 - T indel 298.75 1/1 24 8 0 8 1.0 intronic ZNF280C XU NM_017666 exon12 c.31237-56insT Uncertain X_129498836_T->A X 129498836 129498836 T A snp 1149.77 1/1 84 35 0 35 1.0 intronic rs2235800 SLC25A14 XU NM_001282198 exon7 c.19541+110T>A 0.388874 0.3783 Uncertain X_129505761_C->T X 129505761 129505761 C T snp 341.78 1/1 27 9 0 9 1.0 intronic rs5930404 SLC25A14 XU NM_001282198 exon9 c.26433+143C>T 0.383576 0.3783 Uncertain X_129506685_C->T X 129506685 129506685 C T snp 267.8 1/1 21 9 0 9 1.0 intronic rs7057748 SLC25A14 XU NM_001282198 exon10 c.27697-197C>T 0.383576 0.3783 Uncertain X_129506779_G->A X 129506779 129506779 G A snp 1142.77 1/1 81 41 0 41 1.0 intronic rs5932752 SLC25A14 XU NM_001282198 exon10 c.27697-103G>A 0.383841 0.3783 Uncertain X_129751477_TTTC->- X 129751477 129751480 TTTC - indel 279.73 0/1 35 7 1 6 0.86 intergenic rs574969819 RBMX2 XU Uncertain X_130408745_G->A X 130408745 130408745 G A snp 1896.77 1/1 99 67 0 67 1.0 exonic rs6529473 IGSF1 XR synonymous SNV NM_001170961 exon18 c.C3594T p.V1198V 0.46596 0.805 0.268863 0.3436 0.8296 Uncertain X_130412178_C->G X 130412178 130412178 C G snp 547.77 1/1 42 19 0 19 1.0 intronic rs4524963 IGSF1 XR NM_001170961 exon8 c.4339+70C>G 0.708874 0.8089 Uncertain X_130415818_T->C X 130415818 130415818 T C snp 2748.77 1/1 99 100 0 100 1.0 exonic rs1128617 IGSF1 XR synonymous SNV NM_001170961 exon8 c.A1347G p.E449E 0.502781 0.6597 0.479788 0.4678 0.6911 Uncertain X_130416284_-->GT X 130416284 130416284 - GT indel 226.8 1/1 18 6 0 6 1.0 intronic rs34764424 IGSF1 XR NM_001170961 exon14 c.8648-133insGT 0.491656 0.6427 Uncertain X_130416958_C->T X 130416958 130416958 C T snp 2904.77 1/1 99 107 0 107 1.0 exonic rs5932877 IGSF1 XR synonymous SNV NM_001170961 exon6 c.G948A p.V316V 0.906225 1 0.888195 0.9683 1 Uncertain X_130420006_T->C X 130420006 130420006 T C snp 1076.77 1/1 78 36 0 36 1.0 exonic rs5930458 IGSF1 XR synonymous SNV NM_001170961 exon4 c.A114G p.P38P 0.944636 1 0.936760 0.9814 0.9998 Uncertain X_130420415_T->C X 130420415 130420415 T C snp 1816.77 1/1 99 70 0 70 1.0 exonic rs4495600 IGSF1 XR synonymous SNV NM_001170961 exon3 c.A93G p.S31S 0.97351 1 0.971504 0.9921 1 Uncertain X_130423359_C->G X 130423359 130423359 C G snp 841.77 1/1 63 30 0 30 1.0 UTR5 rs6637829 IGSF1 XR 0.415894 0.551 0.5596 0.6348 Uncertain X_130423543_G->C X 130423543 130423543 G C snp 1403.77 1/1 99 52 0 52 1.0 upstream rs6637830 IGSF1 XR 0.674437 0.716 Uncertain X_130678467_A->G X 130678467 130678467 A G snp 4310.77 1/1 99 141 0 141 1.0 exonic rs499030 OR13H1 XU synonymous SNV NM_001004486 exon1 c.A420G p.V140V 0.695629 0.6387 0.699328 0.6452 0.6502 Uncertain X_130678844_A->C X 130678844 130678844 A C snp 3197.84 1/1 99 114 0 114 1.0 exonic rs655415 OR13H1 XU nonsynonymous SNV NM_001004486 exon1 c.A797C p.Y266S 0.695894 0.6387 0.699423 0.6457 0.6492 1 T 0.0 P -0.981 T 0.0 T 0.0 T Pathogenic X_131189505_C->T X 131189505 131189505 C T snp 1692.77 1/1 99 63 0 63 1.0 intronic rs5933055 STK26 XU NM_016542 exon3 c.31244+616C>T 0.195232 0.1086 0.1931 0.0690 Uncertain X_131212512_A->G X 131212512 131212512 A G snp 2520.77 1/1 99 83 0 83 1.0 exonic rs5977623 FRMD7 XL synonymous SNV NM_194277 exon12 c.T1533C p.I511I 0.260662 0.1113 0.356054 0.2722 0.0971 Uncertain X_131212642_C->T X 131212642 131212642 C T snp 4522.77 1/1 99 162 0 162 1.0 exonic rs6637934 FRMD7 XL nonsynonymous SNV NM_194277 exon12 c.G1403A p.R468H 0.0707285 0.1086 0.063808 0.0589 0.0960 0.02 T 0.000 P -0.633 T 0.754 T 0.229 P Pathogenic X_131220194_C->T X 131220194 131220194 C T snp 261.8 1/1 21 7 0 7 1.0 intronic rs1406867 FRMD7 XL NM_194277 exon7 c.8163+132C>T 0.955762 0.877 Uncertain X_131231257_G->A X 131231257 131231257 G A snp 1642.77 1/1 99 62 0 62 1.0 intronic rs2064650 FRMD7 XL NM_194277 exon9 c.19394-36G>A 0.181987 0.1086 0.243586 0.1817 0.0951 Uncertain X_131231430_-->AC X 131231430 131231430 - AC indel 276.73 0/1 99 21 4 17 0.81 intronic rs57806249 FRMD7 XL NM_194277 exon9 c.19473+58insAC 0.190199 0.0877 Uncertain X_131233677_A->G X 131233677 131233677 A G snp 170.9 1/1 15 5 0 5 1.0 intronic rs5933072 FRMD7 XL NM_194277 exon10 c.21639+139A>G 0.0829139 0.1086 Uncertain X_132161673_C->T X 132161673 132161673 C T snp 2330.77 1/1 99 84 2 82 0.98 exonic rs41304540 USP26 XU synonymous SNV NM_031907 exon1 c.G576A p.E192E 0.304106 0.3783 0.353253 0.3991 0.3372 Uncertain X_132351003_A->- X 132351003 132351003 A - indel 156.52 1/1 7 10 1 9 0.9 UTR3 rs111884715 TFDP3 XU 0.26649 0.3901 Uncertain X_132437337_G->A X 132437337 132437337 G A snp 1955.77 1/1 99 62 0 62 1.0 exonic rs1048369 GPC4 XU nonsynonymous SNV NM_001448 exon8 c.C1325T p.A442V 0.458278 0.4607 0.404809 0.3490 0.4439 0.03 T 1.000 P -0.913 T 0.902 T 0.411 P Pathogenic X_132438872_C->A X 132438872 132438872 C A snp 1126.77 1/1 81 41 0 41 1.0 exonic rs1129980 GPC4 XU nonsynonymous SNV NM_001448 exon7 c.G1173T p.E391D 0.458808 0.4607 0.404715 0.3483 0.4451 0.37 T 0.993 P -0.927 T 0.104 T 0.12 T Pathogenic X_132549013_G->A X 132549013 132549013 G A snp 1812.77 1/1 99 56 0 56 1.0 UTR5 rs2073288 GPC4 XU 0.503046 0.5275 0.442548 0.4030 0.5425 Uncertain X_132838466_G->A X 132838466 132838466 G A snp 101.28 1/1 9 4 0 4 1.0 intronic rs7052290 GPC3 XR,XU NM_001164617 exon6 c.168150+165G>A 0.469404 0.5262 Uncertain X_133379551_C->T X 133379551 133379551 C T snp 2730.77 1/1 99 107 0 107 1.0 exonic rs2428577 CCDC160 XU synonymous SNV NM_001101357 exon2 c.C721T p.L241L 1 1 1 1 Uncertain X_133511988_G->A X 133511988 133511988 G A snp 95.28 1/1 9 4 0 4 1.0 intronic rs5978001 PHF6 XR NM_032335 exon3 c.387-46G>A 0.811921 0.9594 0.745319 0.7783 0.9504 Uncertain X_133528116_A->C X 133528116 133528116 A C snp 308.78 1/1 24 11 0 11 1.0 intronic rs6529627 PHF6 XR NM_032335 exon5 c.16335+134A>C 0.418808 0.6545 Uncertain X_133548996_TCTC->- X 133548996 133548999 TCTC - indel 1241.73 1/1 57 19 0 19 1.0 intronic rs201922281 PHF6 XR NM_032335 exon8 c.37398-49_37398-46delTCTC 0.0445033 0.1911 0.000789 0.0246 0.2054 Uncertain X_133594186_C->G X 133594186 133594186 C G snp 303.78 1/1 24 13 0 13 1.0 UTR5 rs193054558 HPRT1 XR 0.241325 0.4005 Uncertain X_133633839_A->C X 133633839 133633839 A C snp 50.74 1/1 6 2 0 2 1.0 intronic rs630 HPRT1 XR NM_000194 exon9 c.39718-220A>C 0.239205 0.3992 Uncertain X_133680547_G->A X 133680547 133680547 G A snp 59.74 1/1 6 3 0 3 1.0 ncRNA_intronic rs757309 MIR503HG XU 0.489007 0.7657 Uncertain X_133699960_T->G X 133699960 133699960 T G snp 231.78 1/1 18 8 0 8 1.0 UTR3 rs1982 PLAC1 XU 0.528477 0.3652 Uncertain X_134025744_A->G X 134025744 134025744 A G snp 997.77 1/1 75 31 0 31 1.0 intronic rs6529648 MOSPD1 XU NM_019556 exon2 c.2480+74A>G 0.496954 0.4764 Uncertain X_134125475_C->G X 134125475 134125475 C G snp 169.9 1/1 15 5 0 5 1.0 UTR3 rs11739 SMIM10 XU 0.561854 0.5877 Uncertain X_134948034_A->G X 134948034 134948034 A G snp 1845.77 1/1 99 54 0 54 1.0 exonic CT45A10 XU synonymous SNV NM_001291527 exon3 c.T291C p.N97N 0.834702 0.8678 0.779342 0.7758 0.8768 Uncertain X_135055694_T->C X 135055694 135055694 T C snp 467.77 1/1 36 13 0 13 1.0 intronic MMGT1 XU NM_173470 exon4 c.8573-61T>C 0.822252 0.8613 Uncertain X_135080623_-->T X 135080623 135080623 - T indel 380.73 1/1 53 26 0 26 1.0 intronic SLC9A6 XD NM_001042537 exon4 c.12979-17insT 0.741192 0.7788 0.706749 0.7747 0.7619 Uncertain X_135080773_A->G X 135080773 135080773 A G snp 182.9 1/1 15 7 0 7 1.0 intronic SLC9A6 XD NM_001042537 exon4 c.13056+56A>G Uncertain X_135252235_C->- X 135252235 135252235 C - indel 2123.73 1/1 99 54 0 54 1.0 intronic rs3215593 FHL1 XR,XD,XL Uncertain X_135290250_G->A X 135290250 135290250 G A snp 507.77 1/1 39 15 0 15 1.0 intronic rs2236003 FHL1 XR,XD,XL NM_001159700 exon5 c.1529+130G>A 0.32106 0.3979 Uncertain X_135292022_C->T X 135292022 135292022 C T snp 266.8 1/1 21 9 0 9 1.0 intronic rs2076705 FHL1 XR,XD,XL NM_001159700 exon7 c.3438-7C>T 0.519735 0.7094 0.384834 0.4945 0.6447 Uncertain X_135307049_G->A X 135307049 135307049 G A snp 1165.77 1/1 84 41 0 41 1.0 intronic rs5929742 MAP7D3 XU NM_024597 exon6 c.5451+10G>A 0.486358 0.716 0.432188 0.5398 0.7143 Uncertain X_135310765_G->A X 135310765 135310765 G A snp 1115.77 1/1 78 46 0 46 1.0 intronic rs2273220 MAP7D3 XU NM_024597 exon9 c.9193-16G>A 0.228609 0.6479 0.085401 0.1707 0.6072 Uncertain X_135310785_T->C X 135310785 135310785 T C snp 1442.77 1/1 99 55 0 55 1.0 exonic rs2273221 MAP7D3 XU nonsynonymous SNV NM_024597 exon11 c.A1883G p.Q628R 0.489007 0.716 0.460630 0.5348 0.7100 0.34 T 0.0 P -0.931 T 0.001 T 0.003 T Pathogenic X_135313034_T->G X 135313034 135313034 T G snp 3022.77 1/1 99 122 0 122 1.0 exonic rs1055497 MAP7D3 XU nonsynonymous SNV NM_024597 exon9 c.A1505C p.E502A 0.548344 0.716 0.535855 0.5554 0.7126 1 T 0.0 P -0.948 T 0.0 T 0.0 T Pathogenic X_135322440_A->T X 135322440 135322440 A T snp 356.78 1/1 27 11 0 11 1.0 intronic rs5975706 MAP7D3 XU NM_024597 exon14 c.20952-100A>T 0.486887 0.7173 Uncertain X_135323452_G->A X 135323452 135323452 G A snp 888.77 1/1 66 32 0 32 1.0 intronic rs5975707 MAP7D3 XU NM_024597 exon15 c.21848+16G>A 0.486623 0.716 0.458623 0.5378 0.7142 Uncertain X_135338312_C->T X 135338312 135338312 C T snp 1107.77 1/1 81 36 0 36 1.0 intergenic rs5975709 MAP7D3 XU 0.474172 0.7277 Uncertain X_135474420_C->A X 135474420 135474420 C A snp 3119.77 1/1 99 116 0 116 1.0 exonic rs1329546 ADGRG4 XU synonymous SNV NM_153834 exon17 c.C7941A p.T2647T 0.737219 0.9254 0.635236 0.6599 0.9089 Uncertain X_135474445_GAT->- X 135474445 135474447 GAT - indel 7834.73 1/1 99 135 0 135 1.0 exonic rs34255702 ADGRG4 XU nonframeshift deletion NM_153834 exon17 c.7966_7968del p.2656_2656del 0.737219 0.9254 0.635250 0.6593 0.9078 Uncertain X_135480126_T->C X 135480126 135480126 T C snp 2802.77 1/1 99 103 0 103 1.0 exonic rs5974595 ADGRG4 XU synonymous SNV NM_153834 exon20 c.T8271C p.F2757F 0.767947 0.9267 0.669885 0.6719 0.9086 Uncertain X_135496398_G->A X 135496398 135496398 G A snp 2966.77 1/1 99 115 0 115 1.0 exonic rs5930942 ADGRG4 XU synonymous SNV NM_153834 exon25 c.G9117A p.T3039T 0.766623 0.9267 0.666099 0.6696 0.9068 Uncertain X_135819719_C->G X 135819719 135819719 C G snp 99.28 1/1 9 5 0 5 1.0 intronic rs561435 ARHGEF6 XR NM_004840 exon17 c.64144+5388C>G 0.50543 0.6675 Uncertain X_135956462_G->C X 135956462 135956462 G C snp 311.77 0/1 99 20 9 11 0.55 exonic rs74463481 RBMX XR nonsynonymous SNV NM_002139 exon9 c.C1015G p.R339G 0.2719 0.2257 0.01 T 1.000 P 0.063 D 0.889 T 0.319 P Pathogenic X_135956467_C->T X 135956467 135956467 C T snp 350.77 0/1 99 21 9 12 0.57 exonic rs35899675 RBMX XR nonsynonymous SNV NM_002139 exon9 c.G1010A p.S337N 0.2332 0.2242 0.13 T 0.997 P 0.014 D 0.981 D 0.954 D Pathogenic X_135956506_C->G X 135956506 135956506 C G snp 357.77 0/1 99 31 18 13 0.42 exonic rs77794331 RBMX XR nonsynonymous SNV NM_002139 exon9 c.G971C p.R324P 0.2280 0.1982 0.06 T 1 D 0.185 D 0.996 D 0.969 D Pathogenic X_135956571_-->GG X 135956571 135956571 - GG indel 435.73 0/1 99 39 27 12 0.31 exonic rs369155856 RBMX XR frameshift insertion NM_002139 exon9 c.905_906insCC p.P302fs 0.0474 0.0251 ID=COSM1465890;OCCURENCE=6(large_intestine) Pathogenic X_135956575_G->A X 135956575 135956575 G A snp 342.77 0/1 99 40 27 13 0.33 exonic rs78646793 RBMX XR nonsynonymous SNV NM_002139 exon9 c.C902T p.P301L 0.0475 0.0251 0.05 T 1 D -0.325 T 0.269 T 0.026 T Pathogenic X_136112707_A->G X 136112707 136112707 A G snp 2233.77 1/1 99 77 1 76 0.99 exonic rs5931046 GPR101 XU nonsynonymous SNV NM_054021 exon1 c.T1127C p.L376P 0.214305 0.1348 0.171637 0.1721 0.1184 0.22 T 0.000 P -1.084 T 0.771 T 0.701 P Pathogenic X_137749997_A->T X 137749997 137749997 A T snp 441.77 1/1 33 14 0 14 1.0 intronic rs5976185 FGF13 XU NM_001139498 exon2 c.2806+32181A>T 1 1 1 1 Uncertain X_138067202_A->G X 138067202 138067202 A G snp 4184.77 1/1 99 148 0 148 1.0 intergenic rs34825181 FGF13-AS1 XU 0.682914 0.7696 0.739207 0.8049 0.8094 Uncertain X_138067368_G->A X 138067368 138067368 G A snp 2659.77 1/1 99 87 0 87 1.0 intergenic rs5974786 FGF13-AS1 XU 0.734834 0.7683 Uncertain X_138696949_C->T X 138696949 138696949 C T snp 225.84 1/1 18 7 0 7 1.0 intronic rs2076500 MCF2 XU NM_005369 exon16 c.32410-90C>T 0.0622517 0.1806 Uncertain X_138713443_-->TTTTG X 138713443 138713443 - TTTTG indel 661.74 1/1 30 10 0 10 1.0 intronic rs201633231 MCF2 XU NM_005369 exon23 c.48924-110insTTTTG 0.0625166 0.1793 Uncertain X_138724725_G->A X 138724725 138724725 G A snp 1130.77 1/1 81 45 0 45 1.0 UTR5 rs926563 MCF2 XU 0.998411 0.9921 0.9997 0.9962 Uncertain X_138774209_C->T X 138774209 138774209 C T snp 2135.77 1/1 99 78 0 78 1.0 intergenic rs4824861 MCF2 XU 0.979603 1 0.9938 1 0.58 T 0.006 P -0.905 T Uncertain X_138811003_G->A X 138811003 138811003 G A snp 1040.77 1/1 75 37 0 37 1.0 UTR3 rs2094702 ATP11C XU 0.935894 1 0.938056 Uncertain X_138825675_T->C X 138825675 138825675 T C snp 86.28 1/1 9 3 0 3 1.0 intronic rs1268015 ATP11C XU NM_173694 exon5 c.11905-42T>C 0.983311 1 0.981510 0.9939 1 Uncertain X_138897130_A->C X 138897130 138897130 A C snp 849.77 1/1 60 34 0 34 1.0 exonic rs2491014 ATP11C XU nonsynonymous SNV NM_001010986 exon5 c.T342G p.C114W 0.992053 0.9974 0.984844 0.9863 0.9980 1 T 0.923 P -0.945 T 0.0 T 0.0 T Pathogenic X_139099429_T->G X 139099429 139099429 T G snp 453.77 1/1 33 18 0 18 1.0 intergenic rs5907565 CXorf66 XU 0.945695 1 Uncertain X_139099699_C->T X 139099699 139099699 C T snp 172.9 1/1 15 9 1 8 0.89 intergenic rs5909001 CXorf66 XU 0.770066 0.873 Uncertain X_139099828_T->A X 139099828 139099828 T A snp 1286.77 1/1 93 51 0 51 1.0 intergenic rs5909002 CXorf66 XU 0.988874 1 Uncertain X_139100148_A->C X 139100148 139100148 A C snp 71.28 1/1 9 15 0 15 1.0 intergenic rs17402 CXorf66 XU Uncertain X_139100153_T->C X 139100153 139100153 T C snp 35.74 1/1 6 13 0 13 1.0 intergenic rs17401 CXorf66 XU Uncertain X_139298295_C->T X 139298295 139298295 C T snp 2768.77 1/1 99 129 0 129 1.0 intergenic rs396467 LOC389895 XU Uncertain X_139298612_T->C X 139298612 139298612 T C snp 370.77 1/1 30 11 0 11 1.0 intergenic rs411420 LOC389895 XU 0.483179 0.4712 Uncertain X_140008385_G->T X 140008385 140008385 G T snp 1001.77 1/1 72 38 0 38 1.0 upstream MIR320D2 XU 0.710199 0.8927 0.704680 0.7482 0.8969 Uncertain X_140008515_C->T X 140008515 140008515 C T snp 317.78 1/1 24 12 0 12 1.0 upstream MIR320D2 XU 0.727152 0.894 Uncertain X_140271268_G->C X 140271268 140271268 G C snp 744.77 1/1 57 27 0 27 1.0 UTR5 rs2038375 LDOC1 XU 0.690331 0.8168 Uncertain X_140967121_A->T X 140967121 140967121 A T snp 835.77 1/1 60 32 0 32 1.0 exonic rs12852593 MAGEC3 XU nonsynonymous SNV NM_138702 exon3 c.A419T p.D140V 0.0831788 0.0432 0.042890 0.0902 0.0557 0.16 T 0.0 P -0.994 T 0.969 D 0.599 D Pathogenic X_140967165_T->C X 140967165 140967165 T C snp 930.77 1/1 66 38 0 38 1.0 exonic rs11095909 MAGEC3 XU nonsynonymous SNV NM_138702 exon3 c.T463C p.S155P 0.439205 0.4817 0.266378 0.3294 0.5253 0.43 T 0.0 P -0.984 T 0.0 T 0.0 T Pathogenic X_140967195_T->A X 140967195 140967195 T A snp 931.77 1/1 69 37 0 37 1.0 exonic rs11095910 MAGEC3 XU nonsynonymous SNV NM_138702 exon3 c.T493A p.L165M 0.369536 0.4817 0.205408 0.3177 0.5302 0.14 T 0.0 P -0.904 T 0.0 T 0.0 T Pathogenic X_140993695_G->T X 140993695 140993695 G T snp 63.77 0/1 92 116 105 11 0.09 exonic rs76429235 MAGEC1 XU nonsynonymous SNV NM_005462 exon4 c.G505T p.A169S 0.0005 0 0.03 T 1.000 D -0.890 T 0.005 T 0.001 T Pathogenic X_140993698_G->T X 140993698 140993698 G T snp 61.77 0/1 90 119 107 12 0.1 exonic rs201506503 MAGEC1 XU nonsynonymous SNV NM_005462 exon4 c.G508T p.A170S 0.0005 0.0007 0.49 T 1 D -0.877 T 0.005 T 0.002 T Pathogenic X_140993703_C->G X 140993703 140993703 C G snp 157.77 0/1 99 126 110 16 0.13 exonic rs75782140 MAGEC1 XU synonymous SNV NM_005462 exon4 c.C513G p.S171S 0.0003 0 Uncertain X_140993716_G->C X 140993716 140993716 G C snp 274.77 0/1 99 128 106 22 0.17 exonic rs78700965 MAGEC1 XU nonsynonymous SNV NM_005462 exon4 c.G526C p.V176L 0.130861 0.0864 0.0003 0.0002 1 T 0.977 N -0.931 T 0.002 T 0.0 T Pathogenic X_140993722_A->C X 140993722 140993722 A C snp 359.77 0/1 99 136 110 26 0.19 exonic rs80314937 MAGEC1 XU nonsynonymous SNV NM_005462 exon4 c.A532C p.I178L 0.0009 0.0004 0.38 T 1.000 N -0.923 T 0.002 T 0.0 T Pathogenic X_140993745_T->A X 140993745 140993745 T A snp 784.77 0/1 99 154 115 39 0.25 exonic rs74333625 MAGEC1 XU nonsynonymous SNV NM_005462 exon4 c.T555A p.S185R 0.0093 0.0072 0.01 T 0.0 P -0.944 T 0.347 T 0.043 T Pathogenic X_140993751_A->G X 140993751 140993751 A G snp 824.77 0/1 99 153 112 41 0.27 exonic rs77851571 MAGEC1 XU synonymous SNV NM_005462 exon4 c.A561G p.Q187Q 0.00291391 0.0039 0.0037 Uncertain X_140993755_C->A X 140993755 140993755 C A snp 931.77 0/1 99 157 110 47 0.3 exonic rs74748246 MAGEC1 XU nonsynonymous SNV NM_005462 exon4 c.C565A p.P189T 0.0036 0.0032 0.4 T 0.727 P -0.918 T 0.012 T 0.0 T Pathogenic X_140993852_C->G X 140993852 140993852 C G snp 1963.77 0/1 99 181 90 91 0.5 exonic rs176038 MAGEC1 XU nonsynonymous SNV NM_005462 exon4 c.C662G p.T221S 0.3109 0.2918 0.81 T 0.000 P -0.928 T 0.002 T 0.001 T Pathogenic X_140993859_T->A X 140993859 140993859 T A snp 1726.77 0/1 99 183 97 86 0.47 exonic rs6634333 MAGEC1 XU nonsynonymous SNV NM_005462 exon4 c.T669A p.S223R 0.410861 0.3128 0.3075 0.2756 0.53 T 0.0 P -0.927 T 0.162 T 0.017 T Pathogenic X_140993864_T->C X 140993864 140993864 T C snp 1747.77 0/1 99 183 100 83 0.45 exonic rs34836042 MAGEC1 XU nonsynonymous SNV NM_005462 exon4 c.T674C p.F225S 0.3129 0.2769 0.89 T 0.0 P -0.927 T 0.002 T 0.0 T Pathogenic X_140993877_C->A X 140993877 140993877 C A snp 1495.77 0/1 99 168 90 78 0.46 exonic rs176039 MAGEC1 XU synonymous SNV NM_005462 exon4 c.C687A p.A229A 0.3381 0.2840 Uncertain X_140993905_C->T X 140993905 140993905 C T snp 1143.77 0/1 99 149 86 63 0.42 exonic rs176040 MAGEC1 XU nonsynonymous SNV NM_005462 exon4 c.C715T p.P239S 0.329272 0.2592 0.4364 0.2943 0.73 T 0.0 P -0.926 T 0.002 T 0.0 T CLINSIG=untested;CLNDBN=Malignant_melanoma;CLNREVSTAT=no_assertion_provided;CLNACC=RCV000073098.2;CLNDSDB=MedGen:SNOMED_CT;CLNDSDBID=C0025202:2092003 Pathogenic X_140993913_C->G X 140993913 140993913 C G snp 1013.77 0/1 99 147 91 56 0.38 exonic rs176041 MAGEC1 XU synonymous SNV NM_005462 exon4 c.C723G p.S241S 0.4509 0.2996 Uncertain X_140993945_T->C X 140993945 140993945 T C snp 208.77 0/1 99 123 90 33 0.27 exonic rs145765891 MAGEC1 XU nonsynonymous SNV NM_005462 exon4 c.T755C p.F252S 0.488212 0.3194 0.313641 0.1945 0.125 0.65 T 0.999 N -0.914 T 0.034 T 0.001 T Pathogenic X_140993947_T->C X 140993947 140993947 T C snp 189.77 0/1 99 122 92 30 0.25 exonic rs148942485 MAGEC1 XU nonsynonymous SNV NM_005462 exon4 c.T757C p.S253P 0.489272 0.3194 0.312576 0.1733 0.1129 1 T 0.0 P -1.014 T 0.898 T 0.253 P Pathogenic X_140993989_T->C X 140993989 140993989 T C snp 40.77 0/1 69 118 85 33 0.28 exonic rs77648555 MAGEC1 XU nonsynonymous SNV NM_005462 exon4 c.T799C p.S267P 0.536159 0.4555 0.452626 0.1739 0.1003 1 T 0.000 P -0.951 T 0.0 T 0.0 T Pathogenic X_140994010_C->T X 140994010 140994010 C T snp 80.77 0/1 99 98 75 23 0.23 exonic rs146798989 MAGEC1 XU nonsynonymous SNV NM_005462 exon4 c.C820T p.P274S 0.000794702 0.0012 0.0013 0.87 T 1 N -0.981 T 0.544 P 0.044 P Pathogenic X_140994017_T->C X 140994017 140994017 T C snp 89.77 0/1 99 92 67 25 0.27 exonic rs75148863 MAGEC1 XU nonsynonymous SNV NM_005462 exon4 c.T827C p.F276S 0.0543046 0.0458 0.0290 0.0118 0.15 T 0.000 P -1.010 T 0.797 T 0.128 P Pathogenic X_140994018_C->G X 140994018 140994018 C G snp 99.77 0/1 99 91 70 21 0.23 exonic rs149195933 MAGEC1 XU nonsynonymous SNV NM_005462 exon4 c.C828G p.F276L 7.937e-05 0 0.04 T 1.000 N -0.991 T 0.003 T 0.001 T Pathogenic X_140994031_G->C X 140994031 140994031 G C snp 110.77 0/1 99 98 72 26 0.27 exonic rs176044 MAGEC1 XU nonsynonymous SNV NM_005462 exon4 c.G841C p.V281L 0.182517 0.1649 0.103691 0.0236 0.0434 1 T 1.000 P -0.982 T 0.002 T 0.0 T Pathogenic X_140994171_C->G X 140994171 140994171 C G snp 5317.77 1/1 99 208 2 206 0.99 exonic rs176047 MAGEC1 XU nonsynonymous SNV NM_005462 exon4 c.C981G p.H327Q 0.702517 0.7107 0.670743 0.7166 0.7285 1 T 0.0 P -0.955 T 0.001 T 0.0 T Pathogenic X_140994280_A->G X 140994280 140994280 A G snp 4913.77 1/1 99 177 1 176 0.99 exonic rs4824884 MAGEC1 XU nonsynonymous SNV NM_005462 exon4 c.A1090G p.T364A 0.26596 0.4673 0.168420 0.2552 0.4775 0.04 T 0.0 P -0.891 T 0.414 T 0.039 T Pathogenic X_141290865_C->T X 141290865 141290865 C T snp 2130.77 1/1 99 74 0 74 1.0 exonic rs3765272 MAGEC2 XU synonymous SNV NM_016249 exon3 c.G909A p.P303P 0.713377 0.8783 0.663353 0.7018 0.8716 Uncertain X_142605005_G->A X 142605005 142605005 G A snp 198.84 1/1 18 6 0 6 1.0 intronic rs5908678 SPANXN3 XU NM_001009609 exon2 c.8498-136G>A 0.843974 0.8089 Uncertain X_142795225_G->A X 142795225 142795225 G A snp 2001.77 1/1 99 79 4 75 0.95 exonic rs3859898 SPANXN2 XU synonymous SNV NM_001009615 exon2 c.C453T p.D151D 0.613775 0.8207 0.566695 0.5778 0.8384 Uncertain X_142803571_A->G X 142803571 142803571 A G snp 421.77 1/1 33 14 0 14 1.0 intronic rs851092 SPANXN2 XU NM_001009615 exon2 c.8550-113A>G 0.671788 0.8312 Uncertain X_142967468_T->G X 142967468 142967468 T G snp 1791.77 1/1 91 59 2 57 0.97 exonic UBE2NL XU stopgain NM_001012989 exon1 c.T266G p.L89X 0.617483 0.661 0.666856 0.6364 0.6653 1 T 1.000 P Pathogenic X_144337081_C->A X 144337081 144337081 C A snp 335.78 1/1 27 10 0 10 1.0 intronic SPANXN1 XU NM_001009614 exon2 c.8084-109C>A 0.760795 0.9385 Uncertain X_144904882_T->C X 144904882 144904882 T C snp 3091.77 1/1 99 100 0 100 1.0 exonic SLITRK2 XU synonymous SNV NM_001144009 exon2 c.T939C p.P313P 0.958146 1 0.901164 0.9041 0.9994 Uncertain X_146271440_A->G X 146271440 146271440 A G snp 868.77 1/1 66 24 0 24 1.0 upstream MIR513C XU 0.262781 0.2003 Uncertain X_146312362_A->G X 146312362 146312362 A G snp 1554.77 1/1 99 57 0 57 1.0 upstream;downstream MIR506;MIR507 UN 0.325298 0.1976 0.344000 0.2913 0.2098 Uncertain X_146312603_-->AT X 146312603 146312603 - AT indel 1970.73 1/1 99 42 0 42 1.0 upstream MIR506 XU 0.324503 0.1976 0.351821 0.2922 0.2084 Uncertain X_146312673_G->C X 146312673 146312673 G C snp 352.78 1/1 27 11 0 11 1.0 upstream MIR506 XU 0.348609 0.1976 Uncertain X_146312684_A->- X 146312684 146312684 A - indel 176.77 1/1 21 10 0 10 1.0 upstream MIR506 XU 0.338013 0.199 Uncertain X_146340339_T->- X 146340339 146340339 T - indel 2507.73 1/1 99 56 0 56 1.0 ncRNA_exonic MIR509-3 XU 0.086820 0.0008 0.0005 Uncertain X_146341299_G->A X 146341299 146341299 G A snp 121.77 0/1 99 154 132 22 0.14 upstream;downstream MIR509-3;MIR509-1 UN Uncertain X_146354025_G->A X 146354025 146354025 G A snp 2500.77 1/1 99 90 0 90 1.0 upstream MIR510 XU 0.181192 0.1086 Uncertain X_146354026_T->C X 146354026 146354026 T C snp 2554.77 1/1 99 89 0 89 1.0 upstream MIR510 XU 0.181192 0.1086 Uncertain X_147003564_T->C X 147003564 147003564 T C snp 1129.77 1/1 81 41 0 41 1.0 ncRNA_intronic FMR1-AS1 XU 1 1 Uncertain X_147014960_C->T X 147014960 147014960 C T snp 369.78 1/1 27 16 0 16 1.0 intronic FMR1 XD,XL NM_001185082 exon9 c.20585+678C>T 1 1 1 1 Uncertain X_147015021_C->T X 147015021 147015021 C T snp 360.78 1/1 27 15 0 15 1.0 intronic FMR1 XD,XL NM_001185082 exon9 c.20585+739C>T 1 1 Uncertain X_147026266_G->T X 147026266 147026266 G T snp 56.74 1/1 6 2 0 2 1.0 intronic FMR1 XD,XL NM_001185076 exon14 c.32691-122G>T 1 1 Uncertain X_147106677_C->A X 147106677 147106677 C A snp 96.28 1/1 9 3 0 3 1.0 intronic FMR1NB XU NM_152578 exon5 c.43611+144C>A 1 1 Uncertain X_147733265_-->A X 147733265 147733265 - A indel 1653.73 1/1 99 41 0 41 1.0 intronic AFF2 XR NM_001169123 exon2 c.150902-254insA 1 1 Uncertain X_147891558_T->C X 147891558 147891558 T C snp 312.78 1/1 24 10 0 10 1.0 intronic AFF2 XR NM_001169123 exon4 c.308827+114T>C 0.952848 0.9856 Uncertain X_147919064_AGTTA->- X 147919064 147919068 AGTTA - indel 1231.73 1/1 54 18 0 18 1.0 intronic AFF2 XR NM_001169123 exon5 c.336553-106_336553-102delAGTTA Uncertain X_148037055_G->C X 148037055 148037055 G C snp 876.77 1/1 66 27 0 27 1.0 intronic AFF2 XR NM_001169123 exon11 c.454515-77G>C 0.721589 0.9424 Uncertain X_148048208_TT->- X 148048208 148048209 TT - indel 167.8 1/1 18 8 1 7 0.88 intronic AFF2 XR NM_001169123 exon14 c.465702-111_465702-110delTT 0.77457 0.801 Uncertain X_148055144_A->G X 148055144 148055144 A G snp 1102.77 1/1 81 40 0 40 1.0 intronic rs5980615 AFF2 XR NM_001169123 exon16 c.472520+7A>G 0.954172 1 0.935056 0.9829 0.9998 Uncertain X_148062377_G->A X 148062377 148062377 G A snp 1032.77 1/1 75 39 0 39 1.0 intronic AFF2 XR NM_001169123 exon19 c.479703+57G>A 0.605033 0.8861 0.547222 Uncertain X_148062498_C->G X 148062498 148062498 C G snp 182.9 1/1 15 5 0 5 1.0 intronic AFF2 XR NM_001169123 exon19 c.479703+178C>G 0.605033 0.8861 Uncertain X_148582699_-->G X 148582699 148582699 - G indel 2112.73 1/1 99 52 0 52 1.0 intronic rs74514769 IDS XR NM_000202 exon6 c.18292+131insG 0.387285 0.6283 Uncertain X_148615539_C->T X 148615539 148615539 C T snp 44.74 1/1 6 56 36 20 0.36 ncRNA_exonic rs12856249 LINC00893 XU 0.9545 . Uncertain X_148619843_G->- X 148619843 148619843 G - indel 280.77 1/1 21 7 0 7 1.0 ncRNA_intronic rs782432311 LINC00893 XU 0.402649 0.6767 Uncertain X_148622730_G->A X 148622730 148622730 G A snp 873.77 1/1 63 31 0 31 1.0 UTR5 rs3747443 CXorf40A XU 0.824106 0.8979 Uncertain X_148622745_T->A X 148622745 148622745 T A snp 936.77 1/1 66 37 0 37 1.0 UTR5 rs3747442 CXorf40A XU 0.82596 0.8979 Uncertain X_148627384_A->G X 148627384 148627384 A G snp 2274.77 1/1 99 119 0 119 1.0 exonic rs145921071 CXorf40A XU nonsynonymous SNV NM_001171909 exon3 c.A208G p.T70A 0.940132 1 0.9590 0.9995 0.68 T 0.0 P -0.973 T 0.0 T 0.0 T Pathogenic X_148628490_A->T X 148628490 148628490 A T snp 989.77 1/1 84 57 1 56 0.98 exonic rs12116111 CXorf40A XU synonymous SNV NM_001171907 exon5 c.A459T p.P153P 0.942517 1 0.9778 0.9998 Uncertain X_148685623_G->C X 148685623 148685623 G C snp 101.28 1/1 9 5 0 5 1.0 UTR3 TMEM185A XU 0.352053 0.6571 0.201233 0.3855 0.6639 Uncertain X_149101934_A->C X 149101934 149101934 A C snp 112.77 0/1 99 199 156 43 0.22 exonic rs140921811 CXorf40B XU nonsynonymous SNV NM_001013845 exon4 c.T159G p.C53W 0.0035 0.0036 1 T 0.200 P -0.716 T 0.0 T 0.0 T Pathogenic X_149396273_G->A X 149396273 149396273 G A snp 2257.77 1/1 99 82 0 82 1.0 ncRNA_exonic MIR2114 XU 0.00476821 0.0223 0.0009 0.0051 Uncertain X_149613617_T->C X 149613617 149613617 T C snp 308.78 1/1 24 10 0 10 1.0 upstream rs6526057 MAMLD1 XR 1 1 Uncertain X_149680221_G->C X 149680221 149680221 G C snp 1165.77 1/1 84 41 0 41 1.0 intronic rs659188 MAMLD1 XR NM_005491 exon7 c.66491-52G>C 0.639205 0.4372 Uncertain X_149680554_C->T X 149680554 149680554 C T snp 3753.77 1/1 99 130 2 128 0.98 UTR3 rs2070779 MAMLD1 XR 0.632318 0.4123 0.6778 0.5447 Uncertain X_149826503_G->A X 149826503 149826503 G A snp 1256.77 1/1 90 46 0 46 1.0 splicing MTM1 XR NM_000252 exon11 c.65424+3G>A 0.656954 0.2958 0.638360 0.5797 0.3229 Pathogenic X_149883055_G->A X 149883055 149883055 G A snp 983.77 1/1 72 38 0 38 1.0 intronic MTMR1 XU NM_003828 exon3 c.25093-4041G>A 0.0124503 0.0393 Uncertain X_149895603_-->AT X 149895603 149895603 - AT indel 2238.73 1/1 99 50 0 50 1.0 intronic MTMR1 XU NM_003828 exon4 c.33683-83insAT 0.339868 0.2081 Uncertain X_149896019_G->A X 149896019 149896019 G A snp 753.77 1/1 57 20 0 20 1.0 intronic MTMR1 XU NM_003828 exon5 c.34152-136G>A 0.656159 0.284 Uncertain X_149931106_C->T X 149931106 149931106 C T snp 1169.77 1/1 84 40 0 40 1.0 exonic MTMR1 XU synonymous SNV NM_003828 exon15 c.C1902T p.G634G 0.82649 0.9921 0.808293 0.8643 0.9956 Uncertain X_150336814_G->A X 150336814 150336814 G A snp 647.77 1/1 48 20 0 20 1.0 downstream rs644345 MIR4330 XU 0.799205 0.856 0.7054 0.7941 Uncertain X_150348228_C->T X 150348228 150348228 C T snp 1193.77 1/1 87 40 0 40 1.0 intronic rs1202874 GPR50 XU NM_004224 exon2 c.3049-14C>T 0.811656 0.7317 0.889887 0.8365 0.7224 Uncertain X_150789334_-->A X 150789334 150789334 - A indel 812.73 1/1 75 25 0 25 1.0 intronic rs397762914 PASD1 XU NM_173493 exon5 c.19376-67insA 0.744371 0.9738 Uncertain X_150789950_C->T X 150789950 150789950 C T snp 437.77 1/1 33 17 0 17 1.0 splicing rs945815 PASD1 XU NM_173493 exon6 c.19928-3C>T 0.754702 0.9751 0.711444 0.8883 0.9723 Pathogenic X_150840597_G->A X 150840597 150840597 G A snp 384.77 1/1 30 13 0 13 1.0 intronic rs7886849 PASD1 XU NM_173493 exon14 c.70629-57G>A 0.193377 0.0707 Uncertain X_150840916_C->T X 150840916 150840916 C T snp 1441.77 1/1 99 51 0 51 1.0 exonic rs41299110 PASD1 XU synonymous SNV NM_173493 exon14 c.C1699T p.L567L 0.193907 0.0707 0.203730 0.2426 0.0749 Uncertain X_150841225_A->G X 150841225 150841225 A G snp 56.74 1/1 6 3 0 3 1.0 intronic rs2294101 PASD1 XU NM_173493 exon14 c.71108+92A>G 0.238411 0.0812 Uncertain X_150842210_A->G X 150842210 150842210 A G snp 44.74 1/1 6 2 0 2 1.0 intronic rs17319685 PASD1 XU NM_173493 exon15 c.72374-189A>G 0.180927 0.0772 Uncertain X_150867321_C->T X 150867321 150867321 C T snp 1833.77 1/1 99 68 0 68 1.0 intronic rs5925008 PRRG3 XU NM_024082 exon2 c.7+28C>T 0.172715 0.1806 0.272271 0.3021 0.1890 Uncertain X_150869267_A->G X 150869267 150869267 A G snp 2684.77 1/1 99 91 0 91 1.0 exonic rs4323608 PRRG3 XU nonsynonymous SNV NM_024082 exon4 c.A458G p.N153S 0.916556 0.9987 0.896620 0.9343 0.9998 0.0 P -0.963 T 0.0 T 0.0 T Pathogenic X_150911512_G->A X 150911512 150911512 G A snp 180.9 1/1 15 5 0 5 1.0 intronic rs5924686 CNGA2 XU NM_005140 exon7 c.4609-52G>A 0.984371 0.9725 Uncertain X_150911513_T->C X 150911513 150911513 T C snp 187.9 0/1 15 7 1 6 0.86 intronic rs5924687 CNGA2 XU NM_005140 exon7 c.4609-51T>C 0.984371 0.9725 Uncertain X_150912996_GCATTG->- X 150912996 150913001 GCATTG - indel 733.74 1/1 27 9 0 9 1.0 UTR3 rs201215466 CNGA2 XU 0.16053 0.0785 0.1046 0.0914 Uncertain X_151092126_C->G X 151092126 151092126 C G snp 2284.77 1/1 99 72 0 72 1.0 UTR5 rs1047246 MAGEA4 XU 0.461722 0.6322 0.446476 0.4708 0.6349 Uncertain X_151092220_A->G X 151092220 151092220 A G snp 1944.77 1/1 99 62 0 62 1.0 exonic rs1047248 MAGEA4 XU synonymous SNV NM_001011548 exon3 c.A84G p.A28A 0.53351 0.5955 0.544353 0.4952 0.5993 Uncertain X_151092653_G->A X 151092653 151092653 G A snp 1930.77 1/1 99 65 0 65 1.0 exonic rs1047251 MAGEA4 XU nonsynonymous SNV NM_001011548 exon3 c.G517A p.A173T 0.534834 0.5942 0.568399 0.5190 0.5892 0.0 P -0.986 T 0.001 T 0.003 T Pathogenic X_151125971_A->G X 151125971 151125971 A G snp 1149.77 1/1 84 43 0 43 1.0 intronic rs763539 GABRE XU NM_004961 exon3 c.1160+1639A>G 0.324238 0.4607 0.3074 0.4845 Uncertain X_151138179_A->C X 151138179 151138179 A C snp 1243.77 1/1 87 51 0 51 1.0 exonic rs1139916 GABRE XU nonsynonymous SNV NM_004961 exon3 c.T304G p.S102A 0.70649 0.8599 0.610054 0.7136 0.8725 0.49 T 0.001 P -0.903 T 0.78 T 0.415 P Pathogenic X_151283599_T->G X 151283599 151283599 T G snp 176.9 1/1 15 5 0 5 1.0 UTR3 rs210576 MAGEA10-MAGEA5 XU 0.986755 1 0.987220 0.9964 1 Uncertain X_151303393_C->T X 151303393 151303393 C T snp 2761.77 1/1 99 89 0 89 1.0 exonic rs210586 MAGEA10 XU nonsynonymous SNV NM_021048 exon4 c.G700A p.V234I 0.974305 1 0.973871 0.9930 1 1 T 0.0 P -1.022 T 0.001 T 0.002 T Pathogenic X_151303596_C->T X 151303596 151303596 C T snp 4470.77 1/1 99 160 0 160 1.0 exonic rs210585 MAGEA10 XU nonsynonymous SNV NM_021048 exon4 c.G497A p.R166K 0.949139 1 0.935624 0.9824 1 1 T 0.0 P -0.989 T 0.001 T 0.006 T Pathogenic X_151424488_-->A X 151424488 151424488 - A indel 2321.73 1/1 99 67 0 67 1.0 intronic rs397948830 GABRA3 XU NM_000808 exon6 c.87771+18insA 0.21298 0.1427 0.218618 0.1497 0.1339 Uncertain X_151514195_-->A X 151514195 151514195 - A indel 193.75 1/1 24 12 0 12 1.0 intronic rs3830670 GABRA3 XU NM_000808 exon8 c.177475+21insA 0.258013 0.2094 0.252719 0.1773 0.1922 ID=COSN229950;OCCURENCE=1(NS) Uncertain X_151899760_A->G X 151899760 151899760 A G snp 1142.77 1/1 84 31 0 31 1.0 ncRNA_intronic CSAG4 XU 0.996556 0.9974 Uncertain X_151899789_G->A X 151899789 151899789 G A snp 2191.77 1/1 99 71 1 70 0.99 ncRNA_intronic CSAG4 XU 0.524238 0.6767 Uncertain X_151899818_C->T X 151899818 151899818 C T snp 3024.77 1/1 99 110 0 110 1.0 ncRNA_intronic CSAG4 XU 0.524238 0.6767 0.520969 0.5678 0.6933 Uncertain X_151899913_T->C X 151899913 151899913 T C snp 5729.77 1/1 99 222 2 220 0.99 exonic MAGEA12 XU synonymous SNV NM_005367 exon2 c.A888G p.G296G 0.422517 0.6453 0.361545 0.4268 0.6741 Uncertain X_151900967_G->C X 151900967 151900967 G C snp 99.28 1/1 9 3 0 3 1.0 ncRNA_intronic CSAG4 XU 0.530861 0.6767 Uncertain X_151904488_C->A X 151904488 151904488 C A snp 1705.77 1/1 99 53 0 53 1.0 UTR5 CSAG1 XU 0.517372 0.5689 0.6907 Uncertain X_151904609_T->C X 151904609 151904609 T C snp 3336.77 1/1 99 133 0 133 1.0 intronic CSAG1 XU NM_153478 exon3 c.16+91T>C 0.523709 0.6767 0.539167 Uncertain X_151935540_G->A X 151935540 151935540 G A snp 1622.77 1/1 99 51 0 51 1.0 exonic MAGEA3 XU synonymous SNV NM_005362 exon3 c.C627T p.I209I 0.000529801 0.0026 0.0005 0.0066 Uncertain X_151997273_A->C X 151997273 151997273 A C snp 1467.77 1/1 99 51 0 51 1.0 intronic CETN2 XU NM_004344 exon2 c.834+55A>C 0.307285 0.2003 Uncertain X_151998340_T->C X 151998340 151998340 T C snp 1229.77 1/1 87 44 0 44 1.0 intronic CETN2 XU NM_004344 exon4 c.1920+36T>C 0.0929801 0.106 0.062956 0.0799 0.1077 Uncertain X_152018832_T->G X 152018832 152018832 T G snp 1077.77 1/1 78 42 0 42 1.0 exonic rs5969919 NSDHL XR,XD synonymous SNV NM_015922 exon3 c.T132G p.G44G 0.861457 0.9123 0.820695 0.8764 0.9202 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_multiple_submitters\x2c_no_conflicts;CLNACC=RCV000146961.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain X_152089039_G->A X 152089039 152089039 G A snp 654.77 1/1 48 22 0 22 1.0 intronic ZNF185 XU NM_001178109 exon8 c.5922+84G>A 0.611126 0.5903 Uncertain X_152090551_T->C X 152090551 152090551 T C snp 1477.77 1/1 99 50 0 50 1.0 intronic ZNF185 XU NM_001178109 exon10 c.7683-165T>C 0.609272 0.5746 Uncertain X_152091035_A->T X 152091035 152091035 A T snp 96.28 1/1 9 3 0 3 1.0 intronic ZNF185 XU NM_001178109 exon11 c.8230-228A>T 0.828344 0.7435 Uncertain X_152091153_A->C X 152091153 152091153 A C snp 1247.77 1/1 90 42 0 42 1.0 intronic ZNF185 XU NM_001178109 exon11 c.8230-110A>C 0.828344 0.7435 Uncertain X_152226542_T->C X 152226542 152226542 T C snp 2114.77 1/1 99 69 0 69 1.0 exonic PNMA3 XU nonsynonymous SNV NM_001282535 exon2 c.T1130C p.V377A 0.903841 0.9319 0.888826 0.8950 0.9544 1 T 0.0 P -1.022 T 0.0 T 0.0 T Pathogenic X_152609450_T->C X 152609450 152609450 T C snp 778.77 1/1 57 24 0 24 1.0 intronic ZNF275 XU NM_001080485 exon3 c.8840-1527T>C 0.722384 0.7906 Uncertain X_152609668_T->C X 152609668 152609668 T C snp 1582.77 1/1 99 58 0 58 1.0 intronic ZNF275 XU NM_001080485 exon3 c.8840-1309T>C 0.722649 0.7906 0.6198 0.7455 Uncertain X_152610051_A->T X 152610051 152610051 A T snp 348.78 1/1 27 13 0 13 1.0 intronic ZNF275 XU NM_001080485 exon3 c.8840-926A>T 0.722649 0.7906 0.610378 0.6042 0.7732 Uncertain X_152610108_G->C X 152610108 152610108 G C snp 1521.77 1/1 99 54 0 54 1.0 intronic ZNF275 XU NM_001080485 exon3 c.8840-869G>C 0.722914 0.7906 0.611275 0.6042 0.7737 Uncertain X_152610225_GTGACCTCT->- X 152610225 152610233 GTGACCTCT - indel 5274.73 1/1 99 55 0 55 1.0 intronic ZNF275 XU NM_001080485 exon3 c.8840-752_8840-744delGTGACCTCT 0.723179 0.7906 0.585117 0.6007 0.7686 Uncertain X_152610294_A->G X 152610294 152610294 A G snp 815.77 1/1 60 25 0 25 1.0 intronic ZNF275 XU NM_001080485 exon3 c.8840-683A>G 0.723444 0.7906 Uncertain X_152610947_T->C X 152610947 152610947 T C snp 1013.77 1/1 72 43 0 43 1.0 intronic ZNF275 XU NM_001080485 exon3 c.8840-30T>C 0.723444 0.7906 0.612364 0.6278 0.7892 Uncertain X_152610985_T->C X 152610985 152610985 T C snp 1357.77 1/1 96 50 0 50 1.0 exonic ZNF275 XU synonymous SNV NM_001080485 exon3 c.T39C p.P13P 0.470464 0.5654 0.401831 0.3735 0.5527 Uncertain X_152613112_C->T X 152613112 152613112 C T snp 2849.77 1/1 99 94 0 94 1.0 exonic ZNF275 XU synonymous SNV NM_001080485 exon4 c.C969T p.C323C 0.722119 0.7906 0.608997 0.6251 0.7861 Uncertain X_152710961_G->C X 152710961 152710961 G C snp 3886.77 1/1 99 142 0 142 1.0 intronic TREX2 XU NM_080701 exon1 c.776+8G>C 0.0018543 0.0092 0.0003 0.0059 Uncertain X_152719970_GGGA->- X 152719970 152719973 GGGA - indel 263.87 1/1 15 16 0 16 1.0 splicing HAUS7 XU NM_017518 exon2 c.6631+4_6631+7delGGGA 0.0113 0.0403 Pathogenic X_152728003_T->C X 152728003 152728003 T C snp 464.77 1/1 36 14 0 14 1.0 intronic HAUS7 XU NM_017518 exon7 c.14732-64T>C 0.555232 0.6728 0.420950 Uncertain X_152747650_G->A X 152747650 152747650 G A snp 581.77 1/1 45 15 0 15 1.0 intergenic HAUS7 XU 0.617483 0.9935 Uncertain X_152770230_G->A X 152770230 152770230 G A snp 5370.77 1/1 99 205 0 205 1.0 exonic BGN XR synonymous SNV NM_001711 exon2 c.G141A p.S47S 0.388609 0.4751 0.357569 0.4118 0.4353 Uncertain X_152770402_A->G X 152770402 152770402 A G snp 1535.77 1/1 99 47 0 47 1.0 intronic BGN XR NM_001711 exon2 c.238+75A>G 0.855629 0.8979 Uncertain X_152770462_G->A X 152770462 152770462 G A snp 178.9 1/1 15 6 0 6 1.0 intronic BGN XR NM_001711 exon2 c.238+135G>A 0.38596 0.4777 Uncertain X_152772473_C->T X 152772473 152772473 C T snp 3245.77 1/1 99 114 0 114 1.0 intronic BGN XR NM_001711 exon7 c.2415-31C>T 0.379868 0.4777 0.341759 0.4090 0.4390 Uncertain X_152807425_G->A X 152807425 152807425 G A snp 749.77 1/1 54 27 0 27 1.0 intronic ATP2B3 XR NM_021949 exon3 c.5679+41G>A 0.570066 0.572 0.623165 0.7559 0.5627 Uncertain X_152807505_CTT->- X 152807505 152807507 CTT - indel 289.87 1/1 15 5 0 5 1.0 intronic ATP2B3 XR NM_021949 exon3 c.5679+121_5679+123delCTT 0.749139 0.7749 Uncertain X_152807627_C->- X 152807627 152807627 C - indel 293.74 1/1 27 9 0 9 1.0 intronic ATP2B3 XR NM_021949 exon4 c.6075-153delC 0.717086 0.7749 Uncertain X_152807665_A->G X 152807665 152807665 A G snp 971.77 1/1 72 30 0 30 1.0 intronic ATP2B3 XR NM_021949 exon4 c.6075-115A>G 0.954967 1 Uncertain X_152807923_G->C X 152807923 152807923 G C snp 3833.77 1/1 99 132 0 132 1.0 intronic ATP2B3 XR NM_021949 exon4 c.6201+17G>C 0.988609 1 0.990249 0.9970 1 Uncertain X_152814373_T->C X 152814373 152814373 T C snp 190.9 1/1 15 8 0 8 1.0 intronic ATP2B3 XR NM_021949 exon8 c.12607+61T>C 0.367947 0.4542 Uncertain X_152815089_A->G X 152815089 152815089 A G snp 4049.77 1/1 99 160 0 160 1.0 exonic ATP2B3 XR synonymous SNV NM_001001344 exon9 c.A1473G p.G491G 0.98543 1 0.989492 0.9967 1 Uncertain X_152821887_C->T X 152821887 152821887 C T snp 146.03 1/1 12 6 0 6 1.0 intronic ATP2B3 XR NM_021949 exon13 c.20171+11C>T 0.945695 1 0.940937 0.9822 1 Uncertain X_152825414_G->T X 152825414 152825414 G T snp 2097.77 1/1 99 72 0 72 1.0 intronic ATP2B3 XR NM_021949 exon16 c.23695+14G>T 0.88106 0.9882 0.852693 0.9317 0.9868 Uncertain X_152825433_A->G X 152825433 152825433 A G snp 1621.77 1/1 99 56 0 56 1.0 intronic ATP2B3 XR NM_021949 exon16 c.23695+33A>G 0.98649 0.9987 0.989868 0.9963 0.9998 Uncertain X_152827445_A->G X 152827445 152827445 A G snp 88.28 1/1 9 3 0 3 1.0 intronic ATP2B3 XR NM_021949 exon18 c.25887-147A>G 0.926623 0.9882 Uncertain X_152830322_A->G X 152830322 152830322 A G snp 1137.77 1/1 81 41 0 41 1.0 intronic ATP2B3 XR NM_021949 exon19 c.28673-56A>G 0.917086 0.9895 Uncertain X_152864513_-->C X 152864513 152864513 - C indel 287.75 1/1 24 8 0 8 1.0 exonic rs200645137 FAM58A XD unknown 0.516291 0.5759 0.979428 1 1 Uncertain X_152864609_-->C X 152864609 152864609 - C indel 189.87 1/1 15 6 0 6 1.0 UTR5 rs201833882 FAM58A XD 0.998411 1 Uncertain X_152935705_C->A X 152935705 152935705 C A snp 137.03 1/1 12 5 0 5 1.0 intronic PNCK XU 0.725828 0.9071 Uncertain X_152954025_A->G X 152954025 152954025 A G snp 185.9 1/1 15 7 0 7 1.0 UTR5 rs384573 SLC6A8 XR 1 1 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000118393.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain X_153005537_C->- X 153005537 153005537 C - indel 2565.73 1/1 99 66 0 66 1.0 intronic rs398123101 ABCD1 XR NM_000033 exon6 c.14824-8delC 0.0193377 0.0903 0.001372 0.0074 0.0908 CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=criteria_provided\x2c_single_submitter;CLNACC=RCV000077952.3;CLNDSDB=MedGen;CLNDSDBID=CN169374 Uncertain X_153031839_T->C X 153031839 153031839 T C snp 1877.77 1/1 99 70 0 70 1.0 intronic PLXNB3 XU NM_001163257 exon3 c.114+60T>C 0.512318 0.5497 Uncertain X_153031840_G->C X 153031840 153031840 G C snp 1799.77 1/1 99 68 0 68 1.0 intronic PLXNB3 XU NM_001163257 exon3 c.114+61G>C 0.501457 0.5445 Uncertain X_153036884_C->T X 153036884 153036884 C T snp 2063.77 1/1 99 69 0 69 1.0 intronic PLXNB3 XU NM_001163257 exon14 c.5193+26C>T 0.426755 0.6047 0.207626 0.2741 0.5680 Uncertain X_153037172_G->A X 153037172 153037172 G A snp 93.28 1/1 9 5 0 5 1.0 intronic PLXNB3 XU NM_001163257 exon15 c.5445+62G>A 0.376424 0.6034 Uncertain X_153037275_C->T X 153037275 153037275 C T snp 383.77 1/1 30 12 0 12 1.0 intronic PLXNB3 XU NM_001163257 exon16 c.5653-43C>T 0.833907 0.7592 0.824872 0.8153 0.7358 Uncertain X_153037578_-->GGTGGAGAAGGTGCGCTCGGTAGCAGCT X 153037578 153037578 - GGTGGAGAAGGTGCGCTCGGTAGCAGCT indel 3918.73 1/1 54 19 0 19 1.0 intronic PLXNB3 XU NM_001163257 exon17 c.5971-58insGGTGGAGAAGGTGCGCTCGGTAGCAGCT 0.376159 0.5275 Uncertain X_153037594_C->G X 153037594 153037594 C G snp 1411.77 1/1 99 43 0 43 1.0 intronic PLXNB3 XU NM_001163257 exon17 c.5971-42C>G 0.808477 0.7644 0.795508 0.7919 0.7345 Uncertain X_153037779_G->A X 153037779 153037779 G A snp 2703.77 1/1 99 101 0 101 1.0 intronic PLXNB3 XU NM_001163257 exon17 c.6077+37G>A 0.46543 0.5942 0.266616 0.2826 0.5539 Uncertain X_153038101_G->C X 153038101 153038101 G C snp 732.77 1/1 54 25 0 25 1.0 intronic PLXNB3 XU NM_001163257 exon18 c.6675-239G>C 0.474437 0.6008 Uncertain X_153038516_C->G X 153038516 153038516 C G snp 1002.77 1/1 72 36 0 36 1.0 intronic PLXNB3 XU NM_001163257 exon18 c.6806+45C>G 1 1 1 1 Uncertain X_153038661_G->C X 153038661 153038661 G C snp 1128.77 1/1 81 42 0 42 1.0 intronic PLXNB3 XU NM_001163257 exon19 c.7019-23G>C 0.832583 0.7762 0.814302 0.8034 0.7466 Uncertain X_153039502_G->C X 153039502 153039502 G C snp 2977.77 1/1 99 104 0 104 1.0 exonic PLXNB3 XU nonsynonymous SNV NM_005393 exon20 c.G3468C p.E1156D 0.774305 0.7775 0.751629 0.7922 0.7573 0.23 T 0.000 P -1.002 T 0.005 T 0.018 T Pathogenic X_153039615_A->G X 153039615 153039615 A G snp 2094.77 1/1 99 76 0 76 1.0 intronic PLXNB3 XU NM_001163257 exon22 c.7975-25A>G 1 1 1 1 Uncertain X_153041544_T->C X 153041544 153041544 T C snp 1737.77 1/1 99 61 0 61 1.0 exonic PLXNB3 XU nonsynonymous SNV NM_005393 exon27 c.T4604C p.M1535T 0.831523 0.7736 0.817031 0.8195 0.7633 0.54 T 0.0 P -1.016 T 0.0 T 0.0 T Pathogenic X_153045812_C->T X 153045812 153045812 C T snp 2043.77 1/1 99 77 0 77 1.0 upstream SRPK3 XU 0.366093 0.6178 0.3790 0.5706 Uncertain X_153047809_A->G X 153047809 153047809 A G snp 387.77 1/1 30 10 0 10 1.0 intronic SRPK3 XU NM_001170760 exon5 c.1122+146A>G 0.856159 0.8168 Uncertain X_153048403_T->C X 153048403 153048403 T C snp 3079.77 1/1 99 104 0 104 1.0 splicing SRPK3 XU NM_001170760 exon7 c.1866-4T>C 0.610331 0.8495 0.394129 0.4806 0.8367 Pathogenic X_153049389_A->G X 153049389 153049389 A G snp 1001.77 1/1 72 33 0 33 1.0 intronic SRPK3 XU NM_001170760 exon10 c.2887-39A>G 0.670199 0.8325 0.475991 0.5794 0.8208 Uncertain X_153049391_A->G X 153049391 153049391 A G snp 947.77 1/1 69 32 0 32 1.0 intronic SRPK3 XU NM_001170760 exon10 c.2887-37A>G 0.457748 0.6492 0.226828 0.3564 0.6090 Uncertain X_153049535_A->G X 153049535 153049535 A G snp 2226.77 1/1 99 80 0 80 1.0 exonic SRPK3 XU synonymous SNV NM_001170760 exon10 c.A1011G p.P337P 0.603444 0.8325 0.391147 0.4868 0.8134 Uncertain X_153050984_G->A X 153050984 153050984 G A snp 472.77 1/1 36 16 0 16 1.0 UTR3 SRPK3 XU 0.456424 0.6492 0.233374 0.3095 0.5989 Uncertain X_153051907_G->A X 153051907 153051907 G A snp 1422.77 1/1 99 54 0 54 1.0 splicing IDH3G XU NM_174869 exon2 c.301+3G>A 0.471258 0.6466 0.288815 0.4404 0.6233 Pathogenic X_153052649_C->A X 153052649 153052649 C A snp 1061.77 1/1 78 35 0 35 1.0 intronic IDH3G XU NM_174869 exon4 c.1005+41C>A 0.462517 0.6453 0.284564 0.3812 0.6034 Uncertain X_153052661_A->G X 153052661 153052661 A G snp 836.77 1/1 60 28 0 28 1.0 intronic IDH3G XU NM_174869 exon4 c.1005+53A>G 0.964238 0.8325 Uncertain X_153053698_-->G X 153053698 153053698 - G indel 1653.73 1/1 99 43 0 43 1.0 intronic IDH3G XU NM_174869 exon7 c.1987+108insG 0.590728 0.8298 Uncertain X_153061775_A->G X 153061775 153061775 A G snp 304.78 1/1 24 8 0 8 1.0 intronic SSR4 XR NM_001204527 exon3 c.2109-113A>G 0.604238 0.839 Uncertain X_153062772_T->C X 153062772 153062772 T C snp 50.74 1/1 6 2 0 2 1.0 intronic SSR4 XR NM_001204527 exon4 c.3133-140T>C 0.986755 1 Uncertain X_153063470_A->C X 153063470 153063470 A C snp 76.77 0/1 99 33 20 13 0.39 intronic SSR4 XR NM_001204527 exon6 c.3746-55A>C Uncertain X_153072107_T->C X 153072107 153072107 T C snp 640.77 1/1 48 19 0 19 1.0 intronic PDZD4 XU NM_001303515 exon5 c.3389-89T>C 0.399735 0.6636 Uncertain X_153073319_G->A X 153073319 153073319 G A snp 856.77 1/1 63 32 0 32 1.0 intronic PDZD4 XU NM_001303513 exon7 c.4544-32G>A 0.336424 0.6571 0.3573 0.6228 Uncertain X_153073752_T->C X 153073752 153073752 T C snp 1669.77 1/1 99 57 0 57 1.0 intronic PDZD4 XU NM_001303515 exon7 c.4989-44T>C 0.882384 0.8312 0.9246 0.8293 Uncertain X_153129556_G->A X 153129556 153129556 G A snp 238.8 1/1 21 7 0 7 1.0 intronic L1CAM XR,XL NM_001143963 exon3 c.1355+84G>A 0.843709 0.8312 Uncertain X_153134521_G->C X 153134521 153134521 G C snp 56.74 1/1 6 2 0 2 1.0 intronic L1CAM XR,XL NM_001143963 exon17 c.6290+114G>C 1 1 Uncertain X_153146400_A->G X 153146400 153146400 A G snp 222.84 1/1 18 6 0 6 1.0 ncRNA_intronic LCA10 XU 0.672053 0.7225 Uncertain X_153149118_A->G X 153149118 153149118 A G snp 139.03 1/1 12 4 0 4 1.0 ncRNA_intronic LCA10 XU 0.830464 0.9961 0.6535 0.9941 Uncertain X_153149708_-->C X 153149708 153149708 - C indel 2552.73 1/1 99 58 0 58 1.0 ncRNA_exonic LCA10 XU 1.0000 0.9994 ID=COSM1578472;OCCURENCE=1(lung) Uncertain X_153149715_C->G X 153149715 153149715 C G snp 1366.77 1/1 96 50 0 50 1.0 ncRNA_exonic LCA10 XU 1 1 1 1 0 D 0.0 P -0.891 T Uncertain X_153150791_C->T X 153150791 153150791 C T snp 2031.77 1/1 99 76 0 76 1.0 ncRNA_intronic LCA10 XU 0.563444 0.6911 0.341244 0.4931 0.6889 Uncertain X_153150929_G->A X 153150929 153150929 G A snp 744.77 1/1 54 25 0 25 1.0 ncRNA_intronic LCA10 XU 0.566093 0.7029 0.316372 0.5261 0.7052 Uncertain X_153151277_C->G X 153151277 153151277 C G snp 409.77 1/1 30 16 0 16 1.0 ncRNA_exonic LCA10 XU 1 1 0 D 1.000 N -0.966 T Uncertain X_153151280_-->CC X 153151280 153151280 - CC indel 749.73 1/1 45 15 0 15 1.0 ncRNA_exonic LCA10 XU 0.996108 1 1 Uncertain X_153151285_T->- X 153151285 153151285 T - indel 598.73 1/1 45 15 0 15 1.0 ncRNA_exonic LCA10 XU 0.999575 1 1 Uncertain X_153151456_T->G X 153151456 153151456 T G snp 101.28 1/1 9 4 0 4 1.0 ncRNA_intronic rs12837217 LCA10 XU 0.999735 0.9987 0 . Uncertain X_153151461_T->G X 153151461 153151461 T G snp 101.28 1/1 9 4 0 4 1.0 ncRNA_intronic rs12837218 LCA10 XU 0.99947 1 Uncertain X_153153839_C->T X 153153839 153153839 C T snp 1369.77 1/1 99 47 0 47 1.0 ncRNA_intronic LCA10 XU 0.666225 0.716 Uncertain X_153170980_T->G X 153170980 153170980 T G snp 235.84 1/1 18 10 0 10 1.0 splicing AVPR2 XR NM_000054 exon2 c.386-5T>G 0.999205 0.9974 0.9993 0.9922 Pathogenic X_153171993_A->G X 153171993 153171993 A G snp 5246.77 1/1 99 196 0 196 1.0 exonic AVPR2 XR synonymous SNV NM_000054 exon3 c.A927G p.L309L 0.688477 0.7186 0.502225 0.4756 0.7196 0.02 T 1.0 P -1.065 T Likely benign X_153174819_-->G X 153174819 153174819 - G indel 4299.73 1/1 99 108 0 108 1.0 intronic ARHGAP4 XU NM_001666 exon3 c.1714-77insG 1 1 Uncertain X_153174867_-->G X 153174867 153174867 - G indel 4059.73 1/1 99 102 0 102 1.0 intronic ARHGAP4 XU NM_001666 exon3 c.1714-29insG 1 1 0.9999 1 Uncertain X_153175053_-->C X 153175053 153175053 - C indel 937.73 1/1 69 23 0 23 1.0 intronic ARHGAP4 XU NM_001666 exon3 c.1807+64insC 1 1 Uncertain X_153176254_A->G X 153176254 153176254 A G snp 576.77 1/1 42 22 0 22 1.0 exonic ARHGAP4 XU synonymous SNV NM_001666 exon15 c.T1716C p.H572H 0.704901 0.7173 0.557980 0.5913 0.7368 0.996 P -1.079 T Likely benign X_153178459_-->C X 153178459 153178459 - C indel 1420.73 1/1 99 37 0 37 1.0 intronic ARHGAP4 XU NM_001666 exon12 c.5295-18insC 0.999735 1 1.0000 1 Uncertain X_153186412_-->G X 153186412 153186412 - G indel 1671.73 1/1 99 43 0 43 1.0 intronic ARHGAP4 XU NM_001666 exon19 c.13367-137insG 1 1 Uncertain X_153186484_-->C X 153186484 153186484 - C indel 2245.73 1/1 99 62 0 62 1.0 intronic ARHGAP4 XU NM_001666 exon19 c.13367-65insC 1 1 0.999308 Uncertain X_153195393_G->A X 153195393 153195393 G A snp 1078.77 1/1 78 41 0 41 1.0 UTR3 NAA10 XR,XD,XL 0.34596 0.695 0.102244 0.2517 0.6711 Uncertain X_153196345_G->A X 153196345 153196345 G A snp 3488.77 1/1 99 130 0 130 1.0 intronic NAA10 XR,XD,XL NM_001256119 exon2 c.861+45G>A 0.36106 0.695 0.120420 0.2580 0.6726 Uncertain X_153196429_C->A X 153196429 153196429 C A snp 2192.77 1/1 99 78 0 78 1.0 intronic NAA10 XR,XD,XL NM_001256119 exon2 c.861+129C>A 0.45457 0.7016 Uncertain X_153200020_G->C X 153200020 153200020 G C snp 259.8 1/1 21 9 0 9 1.0 intronic NAA10 XR,XD,XL NM_001256119 exon6 c.4489+92G>C 0.515762 0.7042 Uncertain X_153207545_A->G X 153207545 153207545 A G snp 1896.77 1/1 99 75 0 75 1.0 intronic RENBP XU NM_002910 exon5 c.6746+61A>G 0.588079 0.7801 0.357778 Uncertain X_153210179_-->G X 153210179 153210179 - G indel 969.73 1/1 81 33 0 33 1.0 UTR5 RENBP XU 0.00344371 0.0065 Uncertain X_153210195_-->GC X 153210195 153210195 - GC indel 1068.73 1/1 63 21 0 21 1.0 UTR5 RENBP XU 0.997881 0.9961 Uncertain X_153210200_A->- X 153210200 153210200 A - indel 635.73 1/1 45 15 0 15 1.0 UTR5 RENBP XU 1 1 Uncertain X_153216036_G->A X 153216036 153216036 G A snp 747.77 1/1 54 25 0 25 1.0 intronic HCFC1 XR NM_005334 exon3 c.1197+42G>A 0.583046 0.7736 0.347287 0.3665 0.7624 Uncertain X_153218365_C->A X 153218365 153218365 C A snp 1954.77 1/1 99 75 1 74 0.99 exonic rs3027878 HCFC1 XR synonymous SNV NM_005334 exon19 c.G4542T p.L1514L 0.383841 0.7631 0.119242 0.4065 0.7743 1.000 P -0.935 T CLINSIG=probable-non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000117217.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Likely benign X_153218920_G->A X 153218920 153218920 G A snp 96.28 1/1 9 3 0 3 1.0 intronic HCFC1 XR NM_005334 exon9 c.4260-137G>A 0.384371 0.7631 Uncertain X_153219665_C->T X 153219665 153219665 C T snp 1575.77 1/1 99 50 0 50 1.0 exonic HCFC1 XR synonymous SNV NM_005334 exon17 c.G4185A p.A1395A 0.403179 0.7801 0.151274 0.3173 0.7636 Uncertain X_153220360_A->G X 153220360 153220360 A G snp 1228.77 1/1 87 46 0 46 1.0 exonic HCFC1 XR nonsynonymous SNV NM_005334 exon17 c.T3490C p.S1164P 0.58596 0.7775 0.342392 0.5008 0.7802 1 T 0.000 P -1.026 T 0.0 T 0.0 T Pathogenic X_153221657_T->C X 153221657 153221657 T C snp 470.77 1/1 36 17 0 17 1.0 exonic HCFC1 XR synonymous SNV NM_005334 exon16 c.A2841G p.P947P 0.585166 0.7775 0.363611 0.3737 0.7610 Uncertain X_153222835_G->C X 153222835 153222835 G C snp 1192.77 1/1 84 47 0 47 1.0 exonic rs2071134 HCFC1 XR synonymous SNV NM_005334 exon13 c.C2283G p.T761T 0.384106 0.7631 0.115835 0.2882 0.7493 Uncertain X_153225634_G->C X 153225634 153225634 G C snp 1506.77 1/1 99 53 0 53 1.0 intronic HCFC1 XR NM_005334 exon19 c.10815+22G>C 0.402914 0.7749 0.149343 0.3467 0.7738 Uncertain X_153227770_G->A X 153227770 153227770 G A snp 1259.77 1/1 90 46 0 46 1.0 intronic HCFC1 XR NM_005334 exon22 c.12960+13G>A 0.404503 0.7749 0.149375 0.3419 0.7736 Uncertain X_153247722_C->T X 153247722 153247722 C T snp 1924.77 1/1 99 67 0 67 1.0 exonic TMEM187 XU nonsynonymous SNV NM_003492 exon2 c.C209T p.S70L 0.390464 0.7277 0.153198 0.3105 0.7253 0.17 T 0.000 P -0.967 T 0.001 T 0.0 T Pathogenic X_153247745_A->G X 153247745 153247745 A G snp 1331.77 1/1 96 49 0 49 1.0 exonic TMEM187 XU nonsynonymous SNV NM_003492 exon2 c.A232G p.M78V 0.540132 0.7317 0.320004 0.3700 0.7324 0.62 T 0.0 P -0.923 T 0.0 T 0.0 T Pathogenic X_153247954_C->T X 153247954 153247954 C T snp 1386.77 1/1 99 50 0 50 1.0 exonic TMEM187 XU synonymous SNV NM_003492 exon2 c.C441T p.C147C 0.392053 0.7317 0.153380 0.3233 0.7318 Uncertain X_153248248_G->A X 153248248 153248248 G A snp 3542.77 1/1 99 129 0 129 1.0 exonic TMEM187 XU synonymous SNV NM_003492 exon2 c.G735A p.T245T 0.348079 0.699 0.105368 0.2587 0.6903 Uncertain X_153296975_G->A X 153296975 153296975 G A snp 99.28 1/1 9 3 0 3 1.0 intronic rs2071569 MECP2 XR,XD,XO,XL NM_001110792 exon1 c.1084+74G>A 0.0733775 0.2801 CLINSIG=untested|non-pathogenic,untested;CLNDBN=not_provided|not_specified,not_provided;CLNREVSTAT=no_assertion_provided|no_assertion_criteria_provided,no_assertion_provided;CLNACC=RCV000144119.1|RCV000170095.1,RCV000144118.1;CLNDSDB=MedGen|MedGen,MedGen;CLNDSDBID=CN221809|CN169374,CN221809 Uncertain X_153482563_G->C X 153482563 153482563 G C snp 783.77 0/1 99 65 22 43 0.66 intergenic OPN1LW XR,XL Uncertain X_153585854_C->T X 153585854 153585854 C T snp 3250.77 1/1 99 132 1 131 0.99 exonic FLNA XR,XD,XU synonymous SNV NM_001456 exon29 c.G4893A p.P1631P 0.000264901 0.0013 0.0002 0.0022 Uncertain X_153629155_A->G X 153629155 153629155 A G snp 1210.77 1/1 87 42 0 42 1.0 exonic RPL10 XU nonsynonymous SNV NM_006013 exon7 c.A605G p.N202S 0.668874 0.9123 0.8261 0.9291 1 T 0.996 P -0.961 T 0.144 T 0.035 T Pathogenic X_153633359_G->C X 153633359 153633359 G C snp 4539.77 1/1 99 168 0 168 1.0 exonic DNASE1L1 XU synonymous SNV NM_001009934 exon3 c.C201G p.P67P 0.697219 0.9136 0.680773 0.8193 0.9252 Uncertain X_153633533_G->A X 153633533 153633533 G A snp 545.77 1/1 42 16 0 16 1.0 intronic DNASE1L1 XU NM_001303620 exon6 c.2377+109G>A 0.697219 0.9136 Uncertain X_153633953_T->C X 153633953 153633953 T C snp 564.77 1/1 42 18 0 18 1.0 UTR5 DNASE1L1 XU 0.868609 0.9136 0.878794 0.8784 0.9099 Uncertain X_153637305_T->C X 153637305 153637305 T C snp 605.77 1/1 45 25 0 25 1.0 UTR5 DNASE1L1 XU 0.696424 0.9136 Uncertain X_153657083_A->G X 153657083 153657083 A G snp 1545.77 1/1 99 59 0 59 1.0 exonic rs28497482 ATP6AP1 XR synonymous SNV NM_001183 exon1 c.A45G p.R15R 0.89351 0.9372 0.905154 0.8816 0.9113 Uncertain X_153660041_C->T X 153660041 153660041 C T snp 139.03 1/1 12 6 0 6 1.0 intronic rs11156577 ATP6AP1 XR NM_001183 exon3 c.3137-134C>T 0.807682 0.9895 Uncertain X_153668172_A->G X 153668172 153668172 A G snp 698.77 1/1 54 27 0 27 1.0 intronic GDI1 XU NM_001493 exon5 c.2687-115A>G 0.98755 1 Uncertain X_153735362_G->T X 153735362 153735362 G T snp 756.77 1/1 57 24 0 24 1.0 intronic FAM3A XU NM_001171132 exon1 c.96+125G>T 0.0013245 0.0065 Uncertain X_153984215_C->A X 153984215 153984215 C A snp 38.77 0/1 67 15 7 8 0.53 intergenic GAB3 XU Uncertain X_153991458_C->T X 153991458 153991458 C T snp 50.74 1/1 6 2 0 2 1.0 intronic DKC1 XR NM_001142463 exon1 c.16+202C>T 0.42596 0.7539 Uncertain X_153994596_G->T X 153994596 153994596 G T snp 1119.77 1/1 81 46 0 46 1.0 exonic DKC1 XR synonymous SNV NM_001363 exon5 c.G369T p.T123T 0.992583 1 0.991858 0.9974 1 1.000 P -1.060 T CLINSIG=non-pathogenic;CLNDBN=not_specified;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000153151.2;CLNDSDB=MedGen;CLNDSDBID=CN169374 Likely benign X_154009618_G->- X 154009618 154009618 G - indel 537.73 1/1 51 19 0 19 1.0 intronic MPP1 XU NM_001166462 exon2 c.2137+30delG 0.590993 0.7395 0.7045 0.7876 Uncertain X_154013483_-->C X 154013483 154013483 - C indel 209.75 1/1 24 15 0 15 1.0 intronic MPP1 XU NM_001166462 exon6 c.5981+51insC 0.5357 0.6148 Uncertain X_154019083_T->C X 154019083 154019083 T C snp 48.74 1/1 6 2 0 2 1.0 intronic MPP1 XU NM_001166462 exon9 c.11806-174T>C 0.544636 0.7395 Uncertain X_154020114_C->A X 154020114 154020114 C A snp 1660.77 1/1 99 65 0 65 1.0 exonic MPP1 XU synonymous SNV NM_001166460 exon3 c.G204T p.T68T 0.544106 0.7395 0.552779 0.6400 0.7750 Uncertain X_154051891_G->A X 154051891 154051891 G A snp 1625.77 1/1 99 51 0 51 1.0 UTR3 SMIM9 XU 0.488477 0.6976 Uncertain X_154456747_A->G X 154456747 154456747 A G snp 1437.77 1/1 99 55 0 55 1.0 exonic VBP1 XU nonsynonymous SNV NM_001303543 exon4 c.A475G p.M159V 1 1 1 1 1 T 0.000 P -0.960 T 0.0 T 0.0 T Pathogenic X_154721357_G->C X 154721357 154721357 G C snp 85.28 1/1 9 7 0 7 1.0 ncRNA_intronic TMLHE-AS1 XU 0.633642 0.7264 0.556080 0.6135 0.6681 Uncertain X_154774663_G->A X 154774663 154774663 G A snp 572.77 1/1 42 18 0 18 1.0 intronic TMLHE XR NM_018196 exon7 c.53561-93G>A 0.529272 0.7238 Uncertain X_154774707_C->T X 154774707 154774707 C T snp 1038.77 1/1 75 38 0 38 1.0 intronic TMLHE XR NM_018196 exon7 c.53561-49C>T 0.643179 0.7251 0.645409 0.7163 0.7486 Uncertain Y_3447245_G->T Y 3447245 3447245 G T snp 266.8 1/1 21 9 0 9 1.0 intronic rs72617615 TGIF2LY YU 0.004912 0.1309 0.8839 Uncertain Y_4968368_G->T Y 4968368 4968368 G T snp 2527.77 1/1 99 125 0 125 1.0 exonic rs2524543 PCDH11Y YU nonsynonymous SNV NM_032972 exon2 c.G2749T p.V917F 0.470733 0.4605 0.9937 ID=COSM4157079,COSM4157078,COSM4157080;OCCURENCE=1(thyroid) Pathogenic Y_4968655_T->G Y 4968655 4968655 T G snp 3182.76 1/1 99 193 1 192 0.99 exonic rs2563389 PCDH11Y YU nonsynonymous SNV NM_032972 exon2 c.T3036G p.N1012K 0.340565 0.4465 0.9942 ID=COSM4157083,COSM4157081,COSM4157082;OCCURENCE=2(thyroid) Pathogenic Y_13309455_A->G Y 13309455 13309455 A G snp 37.77 0/1 66 47 37 10 0.21 intergenic rs111548097 NONE UN Uncertain Y_13310409_C->T Y 13310409 13310409 C T snp 35.74 1/1 6 2 0 2 1.0 intergenic NONE UN Uncertain Y_13310418_G->A Y 13310418 13310418 G A snp 58.77 0/1 28 5 1 4 0.8 intergenic rs75003996 NONE UN Uncertain Y_13310444_T->C Y 13310444 13310444 T C snp 126.77 0/1 63 9 2 7 0.78 intergenic rs62599739 NONE UN Uncertain Y_13310449_A->C Y 13310449 13310449 A C snp 128.77 0/1 61 10 2 8 0.8 intergenic rs62599740 NONE UN Uncertain Y_13310462_T->C Y 13310462 13310462 T C snp 194.77 0/1 99 15 5 10 0.67 intergenic rs140530439 NONE UN Uncertain Y_13310495_T->C Y 13310495 13310495 T C snp 268.77 0/1 99 33 16 17 0.52 intergenic rs76003078 NONE UN Uncertain Y_13310500_G->A Y 13310500 13310500 G A snp 293.77 0/1 99 40 22 18 0.45 intergenic NONE UN Uncertain Y_13310502_A->G Y 13310502 13310502 A G snp 364.77 0/1 99 42 21 21 0.5 intergenic rs76644245 NONE UN Uncertain Y_13310507_G->A Y 13310507 13310507 G A snp 672.77 0/1 99 56 23 33 0.59 intergenic rs80084783 NONE UN Uncertain Y_13310525_A->G Y 13310525 13310525 A G snp 1340.77 0/1 99 99 30 69 0.7 intergenic rs76988723 NONE UN Uncertain Y_13310531_C->A Y 13310531 13310531 C A snp 1352.77 0/1 99 105 33 72 0.69 intergenic NONE UN Uncertain Y_13310532_C->G Y 13310532 13310532 C G snp 1380.77 0/1 99 109 34 75 0.69 intergenic NONE UN Uncertain Y_13310559_T->C Y 13310559 13310559 T C snp 1883.77 0/1 99 147 43 104 0.71 intergenic NONE UN Uncertain Y_13310567_T->C Y 13310567 13310567 T C snp 2111.77 0/1 99 157 43 114 0.73 intergenic rs80348613 NONE UN Uncertain Y_13310578_C->T Y 13310578 13310578 C T snp 2131.77 0/1 99 164 50 114 0.7 intergenic rs200185916 NONE UN Uncertain Y_13310581_G->C Y 13310581 13310581 G C snp 2118.77 0/1 99 168 54 114 0.68 intergenic rs201255328 NONE UN Uncertain Y_13310582_G->A Y 13310582 13310582 G A snp 2112.77 0/1 99 171 54 117 0.68 intergenic rs201815174 NONE UN Uncertain Y_13310602_G->A Y 13310602 13310602 G A snp 2215.77 0/1 99 185 58 127 0.69 intergenic rs200323052 NONE UN Uncertain Y_13310606_T->C Y 13310606 13310606 T C snp 2246.77 0/1 99 187 60 127 0.68 intergenic rs201423743 NONE UN Uncertain Y_13310607_G->A Y 13310607 13310607 G A snp 2224.77 0/1 99 185 58 127 0.69 intergenic rs199570822 NONE UN Uncertain Y_13310610_A->C Y 13310610 13310610 A C snp 2239.77 0/1 99 191 61 130 0.68 intergenic rs74510459 NONE UN Uncertain Y_13310621_C->A Y 13310621 13310621 C A snp 2330.77 0/1 99 202 63 139 0.69 intergenic rs74943081 NONE UN Uncertain Y_13310622_C->A Y 13310622 13310622 C A snp 2334.77 0/1 99 203 62 141 0.69 intergenic rs74864464 NONE UN Uncertain Y_13310679_A->G Y 13310679 13310679 A G snp 1606.77 0/1 99 144 59 85 0.59 intergenic rs75367388 NONE UN Uncertain Y_13310683_T->C Y 13310683 13310683 T C snp 1553.77 0/1 99 137 56 81 0.59 intergenic rs78176760 NONE UN Uncertain Y_13310686_TG->- Y 13310686 13310687 TG - indel 1889.73 0/1 99 113 55 58 0.51 intergenic NONE UN Uncertain Y_13310692_C->T Y 13310692 13310692 C T snp 1552.77 0/1 99 134 59 75 0.56 intergenic NONE UN Uncertain Y_13310719_G->A Y 13310719 13310719 G A snp 1788.77 0/1 99 138 50 88 0.64 intergenic rs79308907 NONE UN Uncertain Y_13310721_C->A Y 13310721 13310721 C A snp 1762.77 0/1 99 137 51 86 0.63 intergenic rs62599741 NONE UN Uncertain Y_13310740_G->A Y 13310740 13310740 G A snp 1540.77 0/1 99 122 43 79 0.65 intergenic rs75526384 NONE UN Uncertain Y_13310768_G->C Y 13310768 13310768 G C snp 1352.77 0/1 99 98 31 67 0.68 intergenic rs79431658 NONE UN Uncertain Y_13310775_A->G Y 13310775 13310775 A G snp 1244.77 0/1 99 91 28 63 0.69 intergenic rs79927335 NONE UN Uncertain Y_13310784_T->G Y 13310784 13310784 T G snp 1169.77 0/1 99 80 23 57 0.71 intergenic rs75891039 NONE UN Uncertain Y_13311579_A->G Y 13311579 13311579 A G snp 126.77 0/1 99 21 7 14 0.67 intergenic rs75728214 NONE UN Uncertain Y_13311584_G->A Y 13311584 13311584 G A snp 129.77 0/1 99 20 6 14 0.7 intergenic rs78550346 NONE UN Uncertain Y_13311677_T->C Y 13311677 13311677 T C snp 49.77 0/1 33 6 1 5 0.83 intergenic rs113505077 NONE UN Uncertain Y_14107314_T->C Y 14107314 14107314 T C snp 198.77 0/1 99 65 52 13 0.2 intergenic NONE UN Uncertain Y_14954404_-->T Y 14954404 14954404 - T indel 231.84 1/1 16 22 1 21 0.95 intronic rs147207338 USP9Y YL NM_004654 exon38 c.133011+13insT 0.913591 0.9709 0.9796 Uncertain Y_14958218_C->T Y 14958218 14958218 C T snp 261.8 1/1 21 7 0 7 1.0 intronic rs13304344 USP9Y YL NM_004654 exon40 c.136877-39C>T 0.98459 0.9959 0.968481 0.9733 0.9983 Uncertain Y_15021516_A->G Y 15021516 15021516 A G snp 686.77 1/1 51 21 0 21 1.0 intronic rs376073279 DDX3Y YU NM_001122665 exon4 c.4471+198A>G 0.0429846 0.209 Uncertain Y_15027529_T->G Y 15027529 15027529 T G snp 1909.77 1/1 99 69 0 69 1.0 intronic rs2032636 DDX3Y YU NM_001122665 exon12 c.10694-12T>G 0.98459 0.9959 0.968072 0.9692 0.9995 Uncertain Y_15471925_T->C Y 15471925 15471925 T C snp 137.03 1/1 12 5 0 5 1.0 intronic rs2032674 UTY YU NM_001258252 exon18 c.110131+59T>C 0.190592 0.8484 Uncertain Y_15508700_CTTCT->- Y 15508700 15508704 CTTCT - indel 476.77 1/1 21 7 0 7 1.0 intronic rs199815934 UTY YU NM_001258252 exon23 c.147062-97_147062-93delCTTCT 0.164639 0.8156 Uncertain Y_20826398_TT->- Y 20826398 20826399 TT - indel 144.77 1/1 20 7 0 7 1.0 intergenic NONE UN Uncertain Y_21154323_G->A Y 21154323 21154323 G A snp 194.77 0/1 99 10 4 6 0.6 ncRNA_intronic rs10465459 TTTY14 YU 0.8776 0.8349 Uncertain Y_21154426_G->A Y 21154426 21154426 G A snp 514.77 0/1 99 74 47 27 0.36 exonic rs52812045 CD24 YU nonsynonymous SNV NM_013230 exon1 c.C170T p.A57V 0.0563 0.0957 Pathogenic Y_21154466_T->A Y 21154466 21154466 T A snp 825.77 0/1 99 88 48 40 0.45 exonic rs10465460 CD24 YU nonsynonymous SNV NM_013230 exon1 c.A130T p.T44S 0.2446 0.1913 Pathogenic Y_21154569_A->G Y 21154569 21154569 A G snp 79.77 0/1 99 33 26 7 0.21 exonic rs17855271 CD24 YU synonymous SNV NM_013230 exon1 c.T27C p.L9L 0.0283 0.0093 Uncertain Y_21154603_A->C Y 21154603 21154603 A C snp 102.77 0/1 99 17 10 7 0.41 ncRNA_intronic rs79788321 TTTY14 YU 0.6806 0.32 Uncertain Y_21477807_G->A Y 21477807 21477807 G A snp 126.78 0/1 27 12 4 8 0.67 intergenic rs772270049 TTTY14 YU Uncertain Y_21477811_-->AG Y 21477811 21477811 - AG indel 358.73 0/1 99 13 4 9 0.69 intergenic TTTY14 YU Uncertain Y_21867787_A->G Y 21867787 21867787 A G snp 93.28 1/1 9 3 0 3 1.0 UTR3 rs2032631 KDM5D YU 0.697486 0.9877 Uncertain Y_21869923_C->T Y 21869923 21869923 C T snp 2243.77 1/1 99 81 0 81 1.0 exonic rs35247789 KDM5D YU nonsynonymous SNV NM_001146706 exon22 c.G3125A p.S1042N 0.00567721 0.0287 0.0015 0.0295 0.973 N -1.063 T 0.57 P 0.535 P Pathogenic